#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604																																						ENST00000405633.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(139-141)ctgfs		membrane-spanning 4-domains, subfamily A, member 15																																				SO:0001589	frameshift_variant	219995	0	0					g.chr11:60531345_60531346insG	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		Exception_encountered	chr11.hg19:g.60531345_60531346insG	ENSP00000386022:p.Leu47fs	0					MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	p.L47fs	NM_001098835.1	NP_001092305.1	1	2	3	2.000915	Q8N5U1	M4A15_HUMAN		2	218_219	+			A9UJY6|A9UJY7|F2Z2J5	Frame_Shift_Ins	INS	ENST00000405633.3	0	1	hg19	c.139_140insG	CCDS44617.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.604	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1	1	0	1		2			0		0	0	88		88	88	1	2.060000	-2.222034	0	0.170000				71	74		441	434	0		1		0	0	0	88	0		1		0	0	0	0	0	71	441
FBXO15	201456	broad.mit.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328																																						ENST00000419743.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999678	0.990000	1.000000																										0				27						c.(1186-1188)aatfs		F-box protein 15							103.0	97.0	99.0					18																	71749238		2203	4300	6503	SO:0001589	frameshift_variant	201456	0	0					g.chr18:71749238delT	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1187delA	chr18.hg19:g.71749238delT	ENSP00000393154:p.Asn397fs	0					FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs	p.N397fs	NM_001142958.1	NP_001136430.1	0	1	1	1.988234	Q8NCQ5	FBX15_HUMAN		9	1266	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	B3KST3	Frame_Shift_Del	DEL	ENST00000419743.2	1	0	hg19	c.1187delA	CCDS45884.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	1	0	1		31	2		0		0	4	46		46	46	1	2.060000	-14.600000	1	0.170000	NM_152676			29	40		178	173	0		1	0	0	0	0	46	0		4.841929e-01	5.714091e-02	0	0	0	3	0	29	178
PDE4D	5144	broad.mit.edu	37	5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	790					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCTTCCCCTACTGCCTCCT	0.436																																						ENST00000340635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(2365-2370)gtagggfs		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)																																			SO:0001589	frameshift_variant	5144	0	0					g.chr5:58270553_58270554insA		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.2367_2368insT	chr5.hg19:g.58270553_58270554insA	ENSP00000345502:p.Gly790fs	0					PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs	p.G790fs	NM_001104631.1	NP_001098101.1	0	0	0	1.967783	Q08499	PDE4D_HUMAN		15	2542_2543	-		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)	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Frame_Shift_Ins	INS	ENST00000340635.6	0	1	hg19	c.2367_2368insT	CCDS47213.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.436	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	1	0	1		2	2		0		0	0	254		254	250	1	2.060000	-2.774725	1	0.170000				219	213		1304	1275	0		1	1	0	0	0	254	0		1	9.340059e-01	0	2	0	27	0	219	1304
COL22A1	169044	broad.mit.edu	37	8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1255	Collagen-like 12.|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)				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)			ACCGGCTCTCCAGGGGGACCCG	0.436										HNSCC(7;0.00092)																												ENST00000303045.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				211						c.(3760-3765)cctggafs		collagen, type XXII, alpha 1																																				SO:0001589	frameshift_variant	169044	0	0					g.chr8:139635983_139635984insA	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.3763dupT	chr8.hg19:g.139635984_139635984dupA	ENSP00000303153:p.Gly1255fs	0	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs	p.G1255fs	NM_152888.1	NP_690848.1	0	0	0	1.973482	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	52	4208_4209	-	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)		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Ins	INS	ENST00000303045.6	0	1	hg19	c.3762_3763insT	CCDS6376.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.436	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1		2	2		0		0	0	289		289	287	1	2.060000	-20.000000	1	0.170000	XM_291257			217	216		1543	1518	0		1	0	0	0	0	289	0		1	4.227315e-02	0	0	0	3	0	217	1543
PLEC	5339	broad.mit.edu	37	8	145001678	145001678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1356	Globular 1.				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)			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						CCAGGCGCCCAAGGGGTCTGC	0.721																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999518	0.990000	1.000000																										0				137						c.(4066-4068)ttgfs		plectin							9.0	10.0	10.0					8																	145001678		1898	3994	5892	SO:0001589	frameshift_variant	5339	0	0					g.chr8:145001678delA	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.4067delT	chr8.hg19:g.145001678delA	ENSP00000323856:p.Leu1356fs	0					PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs	p.L1356fs	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		27	4236	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	0	1	hg19	c.4067delT	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2		0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_000445			30	30		190	184	0		1	0	0	0	0	20	0		1	3.100901e-01	0	1	0	7	0	30	190
FAM120A	23196	broad.mit.edu	37	9	96318839	96318839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	ENST00000277165.6	+	13	2644	c.2450delA	c.(2449-2451)gaafs	p.E817fs	FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs|FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	817						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCCGGGAAAAGACCCCA	0.502																																						ENST00000277165.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0				34						c.(2449-2451)gaafs		family with sequence similarity 120A							127.0	132.0	130.0					9																	96318839		2203	4300	6503	SO:0001589	frameshift_variant	23196	0	0					g.chr9:96318839delA	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.2450delA	chr9.hg19:g.96318839delA	ENSP00000277165:p.Glu817fs	0					FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs	p.E817fs	NM_014612.3	NP_055427.2	0	0	0	1.938587	Q9NZB2	F120A_HUMAN		13	2644	+			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Del	DEL	ENST00000277165.6	1	0	hg19	c.2450delA	CCDS6706.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	1	0	1		64	2		0		0	8	222		222	215	1	2.060000	-20.000000	1	0.170000	NM_014612			128	179		1033	1016	0		1	1	0	0	0	222	0		9.999999e-01	1	0	2	0	361	0	128	1033
LOXL4	84171	broad.mit.edu	37	10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662																																						ENST00000260702.3	1.000000	0.670000	1	8.000000e-01	0.950000	0.919979	0.950000	1.000000																										0				26						c.(1486-1488)cGc>cAc		lysyl oxidase-like 4		C	HIS/ARG	0,4406		0,0,2203	69.0	65.0	67.0		1487	2.4	1.0	10	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL4	NM_032211.6	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	496/757	100015438	1,13005	2203	4300	6503	SO:0001583	missense	84171	4	121410	38				g.chr10:100015438C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1487G>A	chr10.hg19:g.100015438C>T	ENSP00000260702:p.Arg496His	0					RP11-34A14.3_ENST00000433374.1_RNA	p.R496H	NM_032211.6	NP_115587.6	1	2	3	2.008551	Q96JB6	LOXL4_HUMAN		10	1637	-		Colorectal(252;0.234)	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	1	1	hg19	c.1487G>A	CCDS7473.1	1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023928	0.54683	0.0	1.16E-4	ENSG00000138131	ENST00000260702	T	0.36699	1.24	5.25	2.36	0.29203	5.25	2.36	0.29203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191629	0.56097	N	0.000024	T	0.24928	0.0605	L	0.35487	1.065	0.38850	D	0.956265	B	0.12630	0.006	B	0.14023	0.01	T	0.07252	-1.0782	10	0.27785	T	0.31	.	9.7114	0.40247	0.0:0.7701:0.0:0.2299	.	496	Q96JB6	LOXL4_HUMAN	H	496	ENSP00000260702:R496H	ENSP00000260702:R496H	R	-	2	0	0	LOXL4	100005428	100005428	0.938000	0.31826	0.998000	0.56505	0.994000	0.84299	0.146000	0.16180	0.211000	0.20683	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-10.110690	1	0.170000	NM_032211			36	36		418	414	0		1	0		0	0	99	0		1	3.745022e-01	0	0	0	16	0	36	418
LOXL4	84171	broad.mit.edu	37	10	100021971	100021971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572																																						ENST00000260702.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.e3-1		lysyl oxidase-like 4							56.0	52.0	53.0					10																	100021971		2203	4300	6503	SO:0001630	splice_region_variant	84171	0	0					g.chr10:100021971C>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.278-1G>T	chr10.hg19:g.100021971C>A		0							NM_032211.6	NP_115587.6	1	2	3	2.008551	Q96JB6	LOXL4_HUMAN		3	428	-		Colorectal(252;0.234)	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Splice_Site	SNP	ENST00000260702.3	1	1	hg19		CCDS7473.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203068	0.79127	.	.	ENSG00000138131	ENST00000260702	.	.	.	4.69	4.69	0.59074	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LOXL4	100011961	100011961	1.000000	0.71417	0.932000	0.37286	0.868000	0.49771	7.598000	0.82745	2.157000	0.67596	0.561000	0.74099	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_032211	Intron		39	38		154	150	1		1			0	0	50	0		1	0	0	0	0	0	0	39	154
PYROXD2	84795	broad.mit.edu	37	10	100152291	100152291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	320							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532																																						ENST00000370575.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(958-960)ggC>ggT		pyridine nucleotide-disulphide oxidoreductase domain 2							234.0	158.0	184.0					10																	100152291		2203	4300	6503	SO:0001819	synonymous_variant	84795	0	0					g.chr10:100152291G>A	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.960C>T	chr10.hg19:g.100152291G>A		0					PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	p.G320G	NM_032709.2	NP_116098.2	1	2	3	2.008551	Q8N2H3	PYRD2_HUMAN		10	1008	-			D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	1	1	hg19	c.960C>T	CCDS7474.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_032709			61	60		346	334	1		1	0		0	0	93	0		1	2.279396e-01	0	0	0	6	0	61	346
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	HPS1_ENST00000361490.4_Silent_p.T659T|HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667									Hermansky-Pudlak syndrome																													ENST00000325103.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T659T(1)	large_intestine(1)	23						c.(1975-1977)acC>acT		Hermansky-Pudlak syndrome 1							72.0	65.0	67.0					10																	100177447		2203	4300	6503	SO:0001819	synonymous_variant	3257	9	121406	38	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr10:100177447G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1977C>T	chr10.hg19:g.100177447G>A		0					PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	p.T659T	NM_000195.3	NP_000186.2	1	2	3	2.008551	Q92902	HPS1_HUMAN		20	2210	-		Colorectal(252;0.234)	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	1	1	hg19	c.1977C>T	CCDS7475.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.329692	1	0.170000	NM_000195, NM_182637, NM_182638, NM_182639			48	48		219	216	1		1	1		0	0	41	0		1	1	0	24	0	112	0	48	219
HPS1	3257	broad.mit.edu	37	10	100178003	100178003	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000361490.4_Silent_p.L623L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	623					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637									Hermansky-Pudlak syndrome																													ENST00000325103.6	1.000000	0.290000	6.700000e-01	3.800000e-01	0.490000	0.538943	0.490000	0.470000																										0				23						c.(1867-1869)ctC>ctT		Hermansky-Pudlak syndrome 1							115.0	94.0	101.0					10																	100178003		2203	4300	6503	SO:0001819	synonymous_variant	3257	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr10:100178003G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1869C>T	chr10.hg19:g.100178003G>A		0					HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L623L	p.L623L	NM_000195.3	NP_000186.2	1	2	3	2.008551	Q92902	HPS1_HUMAN		19	2102	-		Colorectal(252;0.234)	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	1	1	hg19	c.1869C>T	CCDS7475.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-16.141030	1	0.170000	NM_000195, NM_182637, NM_182638, NM_182639			16	16		382	376	0		1	1		0	0	69	0		9.999283e-01	9.658477e-01	0	4	0	132	0	16	382
HPSE2	60495	broad.mit.edu	37	10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	238					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)			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)		GGCACTAGAACTGTTCCAGGA	0.423																																						ENST00000370552.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(712-714)aGt>aAt		heparanase 2 (inactive)		C	,,ASN/SER,ASN/SER	0,4406		0,0,2203	135.0	128.0	131.0		,,713,713	5.7	1.0	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	,,46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,possibly-damaging,possibly-damaging	,,238/549,238/593	100503711	1,13005	2203	4300	6503	SO:0001583	missense	60495	1	121412	33				g.chr10:100503711C>T	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.713G>A	chr10.hg19:g.100503711C>T	ENSP00000359583:p.Ser238Asn	0					HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron	p.S238N	NM_021828.4	NP_068600.4	1	2	3	2.008551	Q8WWQ2	HPSE2_HUMAN		4	772	-			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	1	1	hg19	c.713G>A	CCDS7477.1	1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314871	0.60524	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050078	0.85682	D	0.000000	T	0.32102	0.0818	L	0.38175	1.15	0.80722	D	1	P;P	0.37914	0.557;0.611	B;B	0.40165	0.215;0.321	T	0.01715	-1.1289	10	0.35671	T	0.21	-10.7404	20.1554	0.98111	0.0:1.0:0.0:0.0	.	238;238	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	N	238	ENSP00000359583:S238N;ENSP00000359577:S238N	ENSP00000359577:S238N	S	-	2	0	0	HPSE2	100493701	100493701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.838000	0.97847	0.591000	0.81541	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_021828			105	100		442	433	1		1			0	0	108	0		1	0	0	0	0	0	0	105	442
CNNM1	26507	broad.mit.edu	37	10	101090473	101090473	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000446890.1_Silent_p.R372R|CNNM1_ENST00000370534.4_Silent_p.R78R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	443	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			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)		TCATGCTGCGCTCAGACGCGG	0.612																																						ENST00000356713.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1327-1329)cgC>cgT		cyclin and CBS domain divalent metal cation transport mediator 1							79.0	66.0	71.0					10																	101090473		2203	4300	6503	SO:0001819	synonymous_variant	26507	0	0					g.chr10:101090473C>T	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.1329C>T	chr10.hg19:g.101090473C>T		0					CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000446890.1_Silent_p.R372R	p.R443R	NM_020348.2	NP_065081.2	1	2	3	2.008551	Q9NRU3	CNNM1_HUMAN		1	1618	+		Colorectal(252;0.234)	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	1	1	hg19	c.1329C>T	CCDS7478.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_020348			51	51		245	237	1		1	1		0	0	65	0		1	5.392182e-01	0	5	0	5	0	51	245
CNNM1	26507	broad.mit.edu	37	10	101136957	101136957	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000488090.1_3'UTR	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	774					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			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)		ACATCCTCAGCGATGTGCAGT	0.562																																						ENST00000356713.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999792	0.990000	1.000000																										0				25						c.(2320-2322)agC>agT		cyclin and CBS domain divalent metal cation transport mediator 1							135.0	99.0	111.0					10																	101136957		2203	4300	6503	SO:0001819	synonymous_variant	26507	0	0					g.chr10:101136957C>T	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.2322C>T	chr10.hg19:g.101136957C>T		0					CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000488090.1_3'UTR	p.S774S	NM_020348.2	NP_065081.2	1	2	3	2.008551	Q9NRU3	CNNM1_HUMAN		7	2611	+		Colorectal(252;0.234)	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	1	1	hg19	c.2322C>T	CCDS7478.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_020348			20	20		102	102	1		1	1		0	0	22	0		9.999974e-01	6.165502e-01	0	4	0	8	0	20	102
CNNM1	26507	broad.mit.edu	37	10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S|CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	948					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			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)		CAATTTAACACCTCTGATCAC	0.488																																						ENST00000356713.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.991165	0.990000	1.000000																										0				25						c.(2842-2844)Cct>Tct		cyclin and CBS domain divalent metal cation transport mediator 1							89.0	81.0	83.0					10																	101151259		2203	4300	6503	SO:0001583	missense	26507	0	0					g.chr10:101151259C>T	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.2842C>T	chr10.hg19:g.101151259C>T	ENSP00000349147:p.Pro948Ser	0					CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S	p.P948S	NM_020348.2	NP_065081.2	1	2	3	2.008551	Q9NRU3	CNNM1_HUMAN		11	3131	+		Colorectal(252;0.234)	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	1	1	hg19	c.2842C>T	CCDS7478.2	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654267	0.47467	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.077331	0.53938	D	0.000056	T	0.64907	0.2641	N	0.19112	0.55	0.41761	D	0.989712	B;B;B	0.29862	0.084;0.094;0.259	B;B;B	0.25759	0.028;0.045;0.063	T	0.65639	-0.6119	10	0.52906	T	0.07	-11.6285	14.2188	0.65812	0.0:0.9288:0.0:0.0712	.	604;898;948	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	948;877;827;604;401	ENSP00000349147:P948S;ENSP00000406492:P877S;ENSP00000359559:P827S;ENSP00000359565:P604S	ENSP00000349147:P948S	P	+	1	0	0	CNNM1	101141249	101141249	0.869000	0.29996	0.771000	0.31576	0.978000	0.69477	3.935000	0.56560	2.734000	0.93682	0.555000	0.69702	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_020348			17	17		129	127	1		1	0		0	0	46	0		9.999722e-01	1.618918e-01	0	1	0	5	0	17	129
GOT1	2805	broad.mit.edu	37	10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					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)			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)	TACTCGTGATTTAGGCTATTG	0.522																																					Melanoma(173;770 3544 21601)	ENST00000370508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(202-204)Aat>Cat		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)						164.0	155.0	158.0					10																	101180479		2203	4300	6503	SO:0001583	missense	2805	0	0					g.chr10:101180479T>G	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.202A>C	chr10.hg19:g.101180479T>G	ENSP00000359539:p.Asn68His	0					GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	p.N68H	NM_002079.2	NP_002070.1	1	2	3	2.008551	P17174	AATC_HUMAN		2	229	-		Ovarian(717;0.028)|Colorectal(252;0.234)	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	1	1	hg19	c.202A>C	CCDS7479.1	1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239518	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.85299	2.745	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.45971	0.499;0.499	D	0.93775	0.7078	10	0.87932	D	0	6.6169	15.3757	0.74602	0.0:0.0:0.0:1.0	.	68;68	Q2TU84;P17174	.;AATC_HUMAN	H	68;47	ENSP00000359539:N68H;ENSP00000445578:N47H	ENSP00000359539:N68H	N	-	1	0	0	GOT1	101170469	101170469	1.000000	0.71417	0.920000	0.36463	0.027000	0.11550	7.533000	0.81994	2.326000	0.78906	0.533000	0.62120	AAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_002079			101	100		430	420	1		1	1		0	0	84	0		1	1	0	85	0	143	0	101	430
GOT1	2805	broad.mit.edu	37	10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	RP11-441O15.3_ENST00000416191.2_lincRNA|GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_5'Flank	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	26					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)			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)	CGGATCCTCCCTGAAGTCGGC	0.602																																					Melanoma(173;770 3544 21601)	ENST00000370508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(76-78)aGg>aTg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)						109.0	106.0	107.0					10																	101190246		2203	4300	6503	SO:0001583	missense	2805	0	0					g.chr10:101190246C>A	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.77G>T	chr10.hg19:g.101190246C>A	ENSP00000359539:p.Arg26Met	0					GOT1_ENST00000471741.1_5'UTR|RP11-441O15.3_ENST00000416191.2_lincRNA|GOT1_ENST00000543866.1_5'Flank	p.R26M	NM_002079.2	NP_002070.1	1	2	3	2.008551	P17174	AATC_HUMAN		1	104	-		Ovarian(717;0.028)|Colorectal(252;0.234)	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	1	1	hg19	c.77G>T	CCDS7479.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585378	0.66105	.	.	ENSG00000120053	ENST00000370508;ENST00000535447	T	0.23348	1.91	5.77	5.77	0.91146	5.77	5.77	0.91146	Pyridoxal phosphate-dependent transferase, major domain (1);	0.107962	0.64402	D	0.000006	T	0.35364	0.0929	M	0.75615	2.305	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.87932	D	0	-4.1193	19.133	0.93415	0.0:1.0:0.0:0.0	.	26;26	Q2TU84;P17174	.;AATC_HUMAN	M	26	ENSP00000359539:R26M	ENSP00000359539:R26M	R	-	2	0	0	GOT1	101180236	101180236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.885000	0.99019	0.655000	0.94253	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	1	0	1		2	2	2	0		0	0	147		147	144	1	2.060000	-2.676619	1	0.170000	NM_002079			133	133		611	603	1		1	1		0	0	147	0		1	1	0	57	0	113	0	133	611
SLC25A28	81894	broad.mit.edu	37	10	101370678	101370678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	341					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512																																						ENST00000370495.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995802	0.990000	1.000000																										0				11						c.(1021-1023)atC>atT		solute carrier family 25 (mitochondrial iron transporter), member 28							114.0	111.0	112.0					10																	101370678		1936	4127	6063	SO:0001819	synonymous_variant	81894	1	120882	29				g.chr10:101370678G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.1023C>T	chr10.hg19:g.101370678G>A		0					SLC25A28_ENST00000496035.1_5'Flank	p.I341I	NM_031212.3	NP_112489.3	1	2	3	2.008551	Q96A46	MFRN2_HUMAN		4	1051	-		Colorectal(252;0.234)	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	1	1	hg19	c.1023C>T	CCDS41559.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-16.435260	1	0.170000	NM_031212			48	49		416	414	1		1	1		0	0	93	0		1	9.999991e-01	0	22	0	156	0	48	416
ENTPD7	57089	broad.mit.edu	37	10	101460751	101460751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101460751T>G	ENST00000370489.4	+	11	1535	c.1357T>G	c.(1357-1359)Tcg>Gcg	p.S453A		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	453						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CATGGCTTGGTCGGTACTAAC	0.453																																						ENST00000370489.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1357-1359)Tcg>Gcg		ectonucleoside triphosphate diphosphohydrolase 7							344.0	314.0	325.0					10																	101460751		2203	4300	6503	SO:0001583	missense	57089	0	0					g.chr10:101460751T>G	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1357T>G	chr10.hg19:g.101460751T>G	ENSP00000359520:p.Ser453Ala	0						p.S453A	NM_020354.3	NP_065087.1	1	2	3	2.008551	Q9NQZ7	ENTP7_HUMAN		11	1535	+		Colorectal(252;0.234)	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	1	0	hg19	c.1357T>G	CCDS7480.1	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783540	0.31593	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	5.21	0.0737	0.14392	5.21	0.0737	0.14392	.	0.595426	0.17637	N	0.167179	T	0.08758	0.0217	L	0.53561	1.675	0.09310	N	0.999991	B	0.22146	0.065	B	0.25884	0.064	T	0.28459	-1.0043	10	0.33940	T	0.23	-5.7712	2.3385	0.04253	0.1192:0.3135:0.1225:0.4448	.	453	Q9NQZ7	ENTP7_HUMAN	A	453	ENSP00000359520:S453A	ENSP00000359520:S453A	S	+	1	0	0	ENTPD7	101450741	101450741	0.001000	0.12720	0.910000	0.35882	0.597000	0.36814	-0.204000	0.09425	0.094000	0.17404	0.523000	0.50628	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	0	0	1		29	4	2	4		4	3	241		241	240	1	2.060000	-20.000000	1	0.170000	NM_020354			246	240		898	875	1		1	1		4	0	241	0		1	9.953626e-01	0	5	0	43	0	246	898
COX15	1355	broad.mit.edu	37	10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000016171.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.P111L			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	111					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)			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)		TTGGCTTGTAGGTGGCTTCAT	0.403																																						ENST00000016171.5	1.000000	0.320000	6.700000e-01	4.100000e-01	0.510000	0.558128	0.510000	0.500000																										0				13						c.(331-333)cCt>cTt		cytochrome c oxidase assembly homolog 15 (yeast)							189.0	188.0	188.0					10																	101487261		2203	4300	6503	SO:0001583	missense	1355	0	0					g.chr10:101487261G>A	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.332C>T	chr10.hg19:g.101487261G>A	ENSP00000016171:p.Pro111Leu	0					COX15_ENST00000370483.5_Missense_Mutation_p.P111L|CUTC_ENST00000493385.1_Intron	p.P111L			1	2	3	2.008551	Q7KZN9	COX15_HUMAN		3	382	-		Colorectal(252;0.234)	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	1	1	hg19	c.332C>T	CCDS7482.1	0	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316166	0.81469	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.87809	-2.3;-2.3	4.49	3.58	0.41010	4.49	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96657	0.9486	10	0.87932	D	0	-7.3348	13.0498	0.58948	0.0787:0.0:0.9213:0.0	.	111;111	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	111	ENSP00000359514:P111L;ENSP00000016171:P111L	ENSP00000016171:P111L	P	-	2	0	0	COX15	101477251	101477251	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.217000	0.77982	1.259000	0.44117	0.563000	0.77884	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.229897	1	0.170000	NP_510870			21	19		475	467	1		1	1		0	0	103	0		9.999971e-01	8.855885e-01	0	9	0	79	0	21	475
ABCC2	1244	broad.mit.edu	37	10	101560322	101560322	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2						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)			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)	TATAAGAAGGTAAGCAGAATA	0.408																																						ENST00000370449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.e9+2		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	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)						136.0	120.0	125.0					10																	101560322		2203	4300	6503	SO:0001630	splice_region_variant	1244	0	0					g.chr10:101560322T>C	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.1209+2T>C	chr10.hg19:g.101560322T>C		0							NM_000392.3	NP_000383	1	2	3	2.008551	Q92887	MRP2_HUMAN		9	1322	+		Colorectal(252;0.234)	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	1	1	hg19		CCDS7484.1	1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671329	0.88348	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.133	0.81458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ABCC2	101550312	101550312	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.021000	0.88750	2.212000	0.71576	0.459000	0.35465	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_000392	Intron		94	93		418	410	1		1			0	0	100	0		1	0	0	0	0	0	0	94	418
ABCC2	1244	broad.mit.edu	37	10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	665	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	TGGCAGGCCAACTTGTGGCTG	0.493																																						ENST00000370449.4	1.000000	0.230000	5.600000e-01	3.100000e-01	0.410000	0.463771	0.410000	0.400000																										0				67						c.(1993-1995)caA>caC		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	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)						92.0	91.0	91.0					10																	101572802		2203	4300	6503	SO:0001583	missense	1244	0	0					g.chr10:101572802A>C	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.1995A>C	chr10.hg19:g.101572802A>C	ENSP00000359478:p.Gln665His	0						p.Q665H	NM_000392.3	NP_000383	1	2	3	2.008551	Q92887	MRP2_HUMAN		16	2108	+		Colorectal(252;0.234)	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	1	1	hg19	c.1995A>C	CCDS7484.1	0	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813457	0.32053	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.79	-11.6	0.00059	5.79	-11.6	0.00059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.582342	0.18986	N	0.125740	D	0.86066	0.5844	M	0.64676	1.99	0.22880	N	0.998617	B	0.06786	0.001	B	0.06405	0.002	T	0.65380	-0.6182	10	0.66056	D	0.02	-0.0442	4.9829	0.14175	0.5568:0.1589:0.1597:0.1246	.	665	Q92887	MRP2_HUMAN	H	665	ENSP00000359478:Q665H	ENSP00000359478:Q665H	Q	+	3	2	2	ABCC2	101562792	101562792	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-4.119000	0.00291	-2.567000	0.00470	-0.924000	0.02725	CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	0	0	1		2	2	2	0		0	0	96		96	89	1	2.060000	-2.917408	1	0.170000	NM_000392			15	14		434	430	0		1	0		0	0	96	0		9.998651e-01	1.334301e-03	0	0	0	2	0	15	434
ABCC2	1244	broad.mit.edu	37	10	101604222	101604222	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	GCATGGAGAAGGTAGGTGGAG	0.517																																						ENST00000370449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3985-3987)aaG>aaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	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)						128.0	114.0	119.0					10																	101604222		2203	4300	6503	SO:0001630	splice_region_variant	1244	0	0					g.chr10:101604222G>T	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.3987+1G>T	chr10.hg19:g.101604222G>T		0						p.K1329N	NM_000392.3	NP_000383	1	2	3	2.008551	Q92887	MRP2_HUMAN		28	4100	+		Colorectal(252;0.234)	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	1	0	hg19	c.3987G>T	CCDS7484.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714854	0.89112	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.64	4.74	0.60224	5.64	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96924	0.9676	10	0.87932	D	0	-0.1001	14.5275	0.67900	0.0701:0.0:0.9299:0.0	.	1329	Q92887	MRP2_HUMAN	N	1329	ENSP00000359478:K1329N	ENSP00000359478:K1329N	K	+	3	2	2	ABCC2	101594212	101594212	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.543000	0.73874	1.398000	0.46701	0.655000	0.94253	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.244829	1	0.170000	NM_000392	Missense_Mutation		88	89		389	383	1		1	1		0	0	103	0		1	4.521968e-01	0	2	0	6	0	88	389
DNMBP	23268	broad.mit.edu	37	10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000324109.4	-	13	3559	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1156	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				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)			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)		GGGCCTCATAGTTGTTCCGGG	0.552																																						ENST00000324109.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3466-3468)aaC>aaA		dynamin binding protein							123.0	121.0	122.0					10																	101646207		2203	4300	6503	SO:0001583	missense	23268	0	0					g.chr10:101646207G>T	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.3468C>A	chr10.hg19:g.101646207G>T	ENSP00000315659:p.Asn1156Lys	0					DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K	p.N1156K	NM_015221.2	NP_056036.1	1	2	3	2.008551	Q6XZF7	DNMBP_HUMAN		13	3559	-		Colorectal(252;0.234)	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	1	1	hg19	c.3468C>A	CCDS7485.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620443	0.66787	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.82	3.96	0.45880	5.82	3.96	0.45880	BAR (3);	0.000000	0.52532	D	0.000062	T	0.68256	0.2981	L	0.59436	1.845	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.963;0.994	T	0.62685	-0.6802	10	0.13108	T	0.6	-33.0653	13.1438	0.59450	0.1969:0.0:0.8031:0.0	.	1156;402;1180	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1180;1156;402;402;92	ENSP00000344914:N1180K;ENSP00000315659:N1156K;ENSP00000443657:N402K;ENSP00000443573:N92K	ENSP00000315659:N1156K	N	-	3	2	2	DNMBP	101636197	101636197	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.481000	0.53179	0.393000	0.25203	-1.134000	0.01955	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-20.000000	1	0.170000	NM_015221			121	118		535	522	1		1	1		0	0	138	0		1	9.999965e-01	0	26	0	54	0	121	535
DNMBP	23268	broad.mit.edu	37	10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000324109.4	-	11	3209	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1040	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				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)			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)		TCTCGGATAAAAGACTTAATC	0.368																																						ENST00000324109.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				61						c.(3118-3120)Ttt>Ctt		dynamin binding protein							155.0	133.0	140.0					10																	101654741		2203	4300	6503	SO:0001583	missense	23268	1	121412	28				g.chr10:101654741A>G	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.3118T>C	chr10.hg19:g.101654741A>G	ENSP00000315659:p.Phe1040Leu	0					DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L	p.F1040L	NM_015221.2	NP_056036.1	1	2	3	2.008551	Q6XZF7	DNMBP_HUMAN		11	3209	-		Colorectal(252;0.234)	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	1	1	hg19	c.3118T>C	CCDS7485.1	1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785164	0.70222	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000104	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.999	D;P;D	0.87578	0.998;0.849;0.998	T	0.48163	-0.9059	10	0.33141	T	0.24	-20.926	15.7668	0.78131	1.0:0.0:0.0:0.0	.	1040;286;1064	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1064;1040;286;286	ENSP00000344914:F1064L;ENSP00000315659:F1040L;ENSP00000443657:F286L	ENSP00000315659:F1040L	F	-	1	0	0	DNMBP	101644731	101644731	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.184000	0.94893	2.201000	0.70794	0.528000	0.53228	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_015221			27	27		149	148	1		1	1		0	0	44	0		1	9.984229e-01	0	20	0	38	0	27	149
DNMBP	23268	broad.mit.edu	37	10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000324109.4	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	874	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)			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)		AATGGCCTCATCATGATTCTG	0.443																																						ENST00000324109.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2620-2622)gAt>gGt		dynamin binding protein							179.0	158.0	165.0					10																	101659757		2203	4300	6503	SO:0001583	missense	23268	0	0					g.chr10:101659757T>C	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.2621A>G	chr10.hg19:g.101659757T>C	ENSP00000315659:p.Asp874Gly	0					DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G	p.D874G	NM_015221.2	NP_056036.1	1	2	3	2.008551	Q6XZF7	DNMBP_HUMAN		7	2712	-		Colorectal(252;0.234)	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	1	1	hg19	c.2621A>G	CCDS7485.1	1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862457	0.91511	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000133	T	0.77922	0.4203	M	0.71871	2.18	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.998	D;P;D	0.72338	0.977;0.861;0.977	T	0.79890	-0.1612	10	0.59425	D	0.04	-24.5908	15.8535	0.78956	0.0:0.0:0.0:1.0	.	874;120;874	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	G	874;874;120;120;162;162	ENSP00000344914:D874G;ENSP00000315659:D874G;ENSP00000443657:D120G;ENSP00000409476:D162G	ENSP00000315659:D874G	D	-	2	0	0	DNMBP	101649747	101649747	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.929000	0.87595	2.207000	0.71202	0.459000	0.35465	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_015221			97	94		524	517	1		1	1		0	0	100	0		1	9.993693e-01	0	17	0	43	0	97	524
CPN1	1369	broad.mit.edu	37	10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	90	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			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)		GCGGCCCAACGCTTCGTTGCC	0.557																																						ENST00000370418.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(268-270)gCg>gTg		carboxypeptidase N, polypeptide 1			VAL/ALA	0,4406		0,0,2203	118.0	99.0	106.0		269	0.7	1.0	10	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPN1	NM_001308.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	90/459	101835819	1,13005	2203	4300	6503	SO:0001583	missense	1369	2	121412	38				g.chr10:101835819G>A	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.269C>T	chr10.hg19:g.101835819G>A	ENSP00000359446:p.Ala90Val	0						p.A90V	NM_001308.2	NP_001299.1	1	2	3	2.008551	P15169	CBPN_HUMAN		2	520	-		Colorectal(252;0.234)	B1AP59	Missense_Mutation	SNP	ENST00000370418.3	1	1	hg19	c.269C>T	CCDS7486.1	1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894347	0.02491	0.0	1.16E-4	ENSG00000120054	ENST00000370418	T	0.09723	2.95	5.59	0.741	0.18336	5.59	0.741	0.18336	Peptidase M14, carboxypeptidase A (4);	0.221527	0.46145	N	0.000303	T	0.02012	0.0063	N	0.00392	-1.555	0.27509	N	0.951746	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.02654	T	1	-42.9443	9.0393	0.36307	0.7156:0.0:0.2844:0.0	.	90	P15169	CBPN_HUMAN	V	90	ENSP00000359446:A90V	ENSP00000359446:A90V	A	-	2	0	0	CPN1	101825809	101825809	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	1.868000	0.39509	-0.101000	0.12219	-0.302000	0.09304	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_001308			95	95		376	373	1		1			0	0	81	0		1	0	0	0	0	0	0	95	376
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	305					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458																																						ENST00000421367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(919-921)ttC>ttT		ER lipid raft associated 1							120.0	116.0	117.0					10																	101912014		2203	4300	6503	SO:0001819	synonymous_variant	10613	0	0					g.chr10:101912014G>A	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.921C>T	chr10.hg19:g.101912014G>A		0					ERLIN1_ENST00000407654.3_Silent_p.F307F	p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	1	2	3	2.008551	O75477	ERLN1_HUMAN		11	3628	-		Colorectal(252;0.234)	B0QZ42|Q53HV0	Silent	SNP	ENST00000421367.2	1	1	hg19	c.921C>T	CCDS7487.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.888014	1	0.170000	NM_006459			90	89		314	308	1		1	1		0	0	74	0		1	1	0	39	0	164	0	90	314
CHUK	1147	broad.mit.edu	37	10	101964413	101964413	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	453					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)			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)	AGAAGACTTAACCTAAACCAC	0.299																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1357-1359)Tta>Cta		conserved helix-loop-helix ubiquitous kinase	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)						78.0	73.0	75.0					10																	101964413		2202	4300	6502	SO:0001630	splice_region_variant	1147	0	0					g.chr10:101964413A>G	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.1356-1T>C	chr10.hg19:g.101964413A>G		0						p.L453L	NM_001278.3	NP_001269.3	1	2	3	2.008551	O15111	IKKA_HUMAN		13	1443	-		Colorectal(252;0.117)	O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	1	0	hg19	c.1357T>C	CCDS7488.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_001278	Silent		41	41		160	156	0		1	1		0	0	60	0		1	9.999614e-01	0	14	0	50	0	41	160
PKD2L1	9033	broad.mit.edu	37	10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	443					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)			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)		GAGGTTGACAGCATTCATGTT	0.493																																						ENST00000318222.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1327-1329)gCt>gAt		polycystic kidney disease 2-like 1							180.0	133.0	149.0					10																	102055907		2203	4300	6503	SO:0001583	missense	9033	0	0					g.chr10:102055907G>T	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.1328C>A	chr10.hg19:g.102055907G>T	ENSP00000325296:p.Ala443Asp	0					PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	p.A443D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	1	2	3	2.008551	Q9P0L9	PK2L1_HUMAN		7	1710	-		Colorectal(252;0.117)	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	1	1	hg19	c.1328C>A	CCDS7492.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.271172	0.95429	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80304	-1.36;-1.36;-1.36	5.8	5.8	0.92144	5.8	5.8	0.92144	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93266	0.6647	10	0.87932	D	0	-8.7781	19.0419	0.93004	0.0:0.0:1.0:0.0	.	396;443	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	368;443;443;441	ENSP00000345068:A368D;ENSP00000266049:A443D;ENSP00000325296:A443D	ENSP00000325296:A443D	A	-	2	0	0	PKD2L1	102045897	102045897	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.799000	0.99117	2.758000	0.94735	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	0	0	0		17	2	2	1		1	1	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_016112			58	57		310	299	1		1			1	0	73	0		9.999998e-01	0	0	0	0	0	0	58	310
SCD	6319	broad.mit.edu	37	10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T	rs200497654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	174					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20668	0.001		0.0	False		,,,				2504	0.0				Colon(67;260 1459 9574 11663)	ENST00000370355.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(520-522)Cga>Tga		stearoyl-CoA desaturase (delta-9-desaturase)							110.0	105.0	107.0					10																	102114262		2203	4300	6503	SO:0001587	stop_gained	6319	0	0					g.chr10:102114262C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.520C>T	chr10.hg19:g.102114262C>T	ENSP00000359380:p.Arg174*	0						p.R174*	NM_005063.4	NP_005054.3	1	2	3	2.008551	O00767	ACOD_HUMAN		4	901	+		Colorectal(252;0.0323)	B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Nonsense_Mutation	SNP	ENST00000370355.2	0	1	hg19	c.520C>T	CCDS7493.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.367420	0.98238	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	.	.	.	5.39	3.46	0.39613	5.39	3.46	0.39613	.	0.267034	0.25236	N	0.032132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.626	9.3816	0.38318	0.4808:0.4005:0.1187:0.0	.	.	.	.	X	174	.	ENSP00000359380:R174X	R	+	1	2	2	SCD	102104252	102104252	0.037000	0.19845	0.995000	0.50966	0.869000	0.49853	0.575000	0.23729	0.590000	0.29694	0.563000	0.77884	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-2.505990	1	0.170000	NM_005063			88	86		519	509	1		1	0		0	0	108	0		1	1	0	0	0	418	0	88	519
SEC31B	25956	broad.mit.edu	37	10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	365					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				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)		ACTTGCTCTGGCACCTGCAGT	0.517																																						ENST00000370345.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1093-1095)Cca>Tca		SEC31 homolog B (S. cerevisiae)							149.0	156.0	154.0					10																	102265204		2203	4300	6503	SO:0001583	missense	25956	0	0					g.chr10:102265204G>A	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.1093C>T	chr10.hg19:g.102265204G>A	ENSP00000359370:p.Pro365Ser	0					SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	p.P365S	NM_015490.3	NP_056305.1	1	2	3	2.008551	Q9NQW1	SC31B_HUMAN		10	1190	-		Colorectal(252;0.117)	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	1	1	hg19	c.1093C>T	CCDS7495.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117907	0.77323	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.57907	0.62;0.37	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.79805	2.47	0.80722	D	1	P;P	0.38800	0.648;0.517	B;B	0.43658	0.426;0.191	T	0.67608	-0.5627	10	0.56958	D	0.05	-12.2986	19.0888	0.93217	0.0:0.0:1.0:0.0	.	364;365	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	365	ENSP00000359370:P365S;ENSP00000391178:P365S	ENSP00000359370:P365S	P	-	1	0	0	SEC31B	102255194	102255194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.386000	0.59620	2.757000	0.94681	0.561000	0.74099	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-20.000000	1	0.170000	NM_015490			176	175		649	626	1		1	0		0	0	132	0		1	1.179010e-01	0	0	0	3	0	176	649
NDUFB8	4714	broad.mit.edu	37	10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000299166.4	-	4	444	c.432C>A	c.(430-432)tgC>tgA	p.C144*	NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*|SEC31B_ENST00000535773.1_Intron	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	144					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)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		CCCCCACCCAGCACATGAATA	0.527																																						ENST00000299166.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(430-432)tgC>tgA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa							113.0	91.0	98.0					10																	102286192		2203	4300	6503	SO:0001587	stop_gained	4714	0	0					g.chr10:102286192G>T	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.432C>A	chr10.hg19:g.102286192G>T	ENSP00000299166:p.Cys144*	0					SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*|NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*	p.C144*	NM_005004.2	NP_004995.1	1	2	3	2.008551	O95169	NDUB8_HUMAN		4	444	-		Colorectal(252;0.234)	A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Nonsense_Mutation	SNP	ENST00000299166.4	0	1	hg19	c.432C>A	CCDS7497.1	1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587017	0.46110	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	3.76	0.43208	5.69	3.76	0.43208	.	0.048843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.9895	7.8746	0.29586	0.3275:0.0:0.6725:0.0	.	.	.	.	X	144;144;113;144	.	ENSP00000299166:C144X	C	-	3	2	2	NDUFB8	102276182	102276182	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.419000	0.44671	0.674000	0.31244	0.555000	0.69702	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_005004			43	43		174	172	1		1	1		0	0	53	0		1	1	0	213	0	626	0	43	174
PAX2	5076	broad.mit.edu	37	10	102509502	102509502	+	Splice_Site	SNP	G	G	A	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000428433.1	+	2	593		c.e2-1		PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Splice_Site|PAX2_ENST00000370296.2_Splice_Site	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						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)			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)		TCTCTCCCCAGCAGGGCACGG	0.672																																						ENST00000428433.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.e2-1		paired box 2							28.0	32.0	31.0					10																	102509502		2197	4284	6481	SO:0001630	splice_region_variant	5076	0	0					g.chr10:102509502G>A		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.44-1G>A	chr10.hg19:g.102509502G>A		0					PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000370296.2_Splice_Site|PAX2_ENST00000355243.3_Splice_Site		NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	1	2	3	2.008551	Q02962	PAX2_HUMAN		2	593	+		Colorectal(252;0.234)	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Splice_Site	SNP	ENST00000428433.1	1	1	hg19		CCDS53569.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787798|3.787798	0.70337|0.70337	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000427256|ENST00000554172	.|D	.|0.97906	.|-4.6	6.17|6.17	5.27|5.27	0.74061|0.74061	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97952	.|0.9326	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97814	.|1.0252	.|5	.|.	.|.	.|.	.|.	15.4423|15.4423	0.75195|0.75195	0.0659:0.0:0.9341:0.0|0.0659:0.0:0.9341:0.0	.|.	.|.	.|.	.|.	.|T	-1|19	.|ENSP00000452489:A19T	.|.	.|A	+|+	.|1	.|0	.|0	PAX2|PAX2	102499492|102499492	102499492|102499492	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	.|GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000		Intron		70	69		292	284	0		1			0	0	41	0		1	0	0	0	0	0	0	70	292
FAM178A	55719	broad.mit.edu	37	10	102684141	102684141	+	Silent	SNP	C	C	T	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	461						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAATAAAACCGCTAGCTCCA	0.413																																						ENST00000238961.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1381-1383)acC>acT		family with sequence similarity 178, member A							80.0	92.0	88.0					10																	102684141		2203	4300	6503	SO:0001819	synonymous_variant	55719	10	121412	48				g.chr10:102684141C>T	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.1383C>T	chr10.hg19:g.102684141C>T		0					FAM178A_ENST00000370271.3_Silent_p.T461T|FAM178A_ENST00000370269.3_Silent_p.T461T	p.T461T	NM_018121.3	NP_060591.3	1	2	3	2.008551	Q8IX21	F178A_HUMAN		5	1925	+			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	1	1	hg19	c.1383C>T	CCDS7500.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-2.676239	1	0.170000				136	136		609	595	1		1	1		0	0	133	0		1	9.929426e-01	0	8	0	28	0	136	609
FAM178A	55719	broad.mit.edu	37	10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	771						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGACAAAGTGCTGTAGAAAAA	0.279																																						ENST00000238961.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0										c.(2311-2313)gCt>gAt		family with sequence similarity 178, member A							40.0	45.0	43.0					10																	102689733		2189	4279	6468	SO:0001583	missense	55719	0	0					g.chr10:102689733C>A	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.2312C>A	chr10.hg19:g.102689733C>A	ENSP00000238961:p.Ala771Asp	0					FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	p.A771D	NM_018121.3	NP_060591.3	1	2	3	2.008551	Q8IX21	F178A_HUMAN		8	2854	+			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	1	1	hg19	c.2312C>A	CCDS7500.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031971	0.75504	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.219124	0.40728	N	0.001031	T	0.39036	0.1063	N	0.22421	0.69	0.38401	D	0.945651	D;D	0.62365	0.991;0.991	P;P	0.61874	0.895;0.895	T	0.10590	-1.0623	10	0.26408	T	0.33	-14.4674	17.8977	0.88893	0.0:1.0:0.0:0.0	.	771;771	Q8IX21;B1AL17	F178A_HUMAN;.	D	771	ENSP00000238961:A771D;ENSP00000359292:A771D	ENSP00000238961:A771D	A	+	2	0	0	FAM178A	102679723	102679723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.804000	0.96469	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				37	36		215	210	1		1	1		0	0	44	0		1	9.876680e-01	0	8	0	35	0	37	215
SEMA4G	57715	broad.mit.edu	37	10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000370250.4	+	14	2423	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L689I|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000493646.1_5'Flank	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	684					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652																																						ENST00000370250.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998945	0.990000	1.000000																										0				25						c.(2050-2052)Ctt>Att		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							60.0	56.0	57.0					10																	102743421		2203	4300	6503	SO:0001583	missense	57715	0	0					g.chr10:102743421C>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2050C>A	chr10.hg19:g.102743421C>A	ENSP00000359270:p.Leu684Ile	0					MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L689I	p.L684I	NM_017893.3	NP_060363.2	1	2	3	2.008551	Q9NTN9	SEM4G_HUMAN		14	2423	+		Colorectal(252;0.234)	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	1	1	hg19	c.2050C>A		1	.	.	.	.	.	.	.	.	.	.	c	16.98	3.272109	0.59649	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.24538	1.85;1.93	5.53	3.64	0.41730	5.53	3.64	0.41730	.	1.042350	0.07500	N	0.907053	T	0.39036	0.1063	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.69654	0.965	T	0.06303	-1.0834	10	0.37606	T	0.19	.	11.3735	0.49713	0.0:0.8284:0.0:0.1716	.	689	Q9NTN9-2	.	I	684;689	ENSP00000359270:L684I;ENSP00000210633:L689I	ENSP00000210633:L689I	L	+	1	0	0	SEMA4G	102733411	102733411	0.601000	0.26907	0.942000	0.38095	0.932000	0.56968	1.208000	0.32345	2.613000	0.88420	0.550000	0.68814	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				19	18		114	113	1		1	1		0	0	30	0		9.999934e-01	9.997825e-01	0	46	0	42	0	19	114
SEMA4G	57715	broad.mit.edu	37	10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000370250.4	+	14	2781	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N808S|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|MRPL43_ENST00000493646.1_5'Flank	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	803					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607																																						ENST00000370250.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2407-2409)aAc>aGc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							75.0	76.0	76.0					10																	102743779		2203	4300	6503	SO:0001583	missense	57715	0	0					g.chr10:102743779A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2408A>G	chr10.hg19:g.102743779A>G	ENSP00000359270:p.Asn803Ser	0					MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N808S	p.N803S	NM_017893.3	NP_060363.2	1	2	3	2.008551	Q9NTN9	SEM4G_HUMAN		14	2781	+		Colorectal(252;0.234)	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	1	0	hg19	c.2408A>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.08|14.08	2.427250|2.427250	0.43122|0.43122	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000370250;ENST00000210633|ENST00000370242;ENST00000342071	T;T|.	0.18016|.	2.24;2.32|.	5.34|5.34	4.21|4.21	0.49690|0.49690	5.34|5.34	4.21|4.21	0.49690|0.49690	.|.	1.345510|.	0.04794|.	U|.	0.432238|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.33117|0.33117	D|D	0.54126|0.54126	B|B;B	0.06786|0.17465	0.001|0.022;0.007	B|B;B	0.11329|0.17433	0.006|0.018;0.004	T|T	0.31308|0.31308	-0.9948|-0.9948	10|8	0.37606|0.87932	T|D	0.19|0	-23.4012|-23.4012	10.1788|10.1788	0.42955|0.42955	0.9216:0.0:0.0784:0.0|0.9216:0.0:0.0784:0.0	.|.	808|173;173	Q9NTN9-2|B1AL06;C9J5Q3	.|.;.	S|A	803;808|173	ENSP00000359270:N803S;ENSP00000210633:N808S|.	ENSP00000210633:N808S|ENSP00000339844:V173A	N|V	+|-	2|2	0|0	0|0	SEMA4G|MRPL43	102733769|102733769	102733769|102733769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.817000|5.817000	0.69229|0.69229	0.886000|0.886000	0.36113|0.36113	0.449000|0.449000	0.29647|0.29647	AAC|GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000				105	103		483	468	1		1	1		0	0	90	0		1	9.999630e-01	0	37	0	32	0	105	483
C10orf2	56652	broad.mit.edu	37	10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000311916.2	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R406*|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000477279.1_5'Flank|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	406	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			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)		GAAGGGACATCGAAAGGGCGA	0.527																																						ENST00000311916.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1216-1218)Cga>Tga		chromosome 10 open reading frame 2							65.0	68.0	67.0					10																	102749183		2203	4300	6503	SO:0001587	stop_gained	56652	0	0					g.chr10:102749183C>T	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.1216C>T	chr10.hg19:g.102749183C>T	ENSP00000309595:p.Arg406*	0					MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R406*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank	p.R406*	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	1	2	3	2.008551	Q96RR1	PEO1_HUMAN		1	1401	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	ENST00000311916.2	0	1	hg19	c.1216C>T	CCDS7506.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536445	0.85812	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2613	19.1729	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000309595:R406X	R	+	1	2	2	C10orf2	102739173	102739173	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.853000	0.62911	2.873000	0.98535	0.563000	0.77884	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_021830			73	73		324	318	1		1	1		0	0	85	0		1	9.168300e-01	0	4	0	17	0	73	324
LZTS2	84445	broad.mit.edu	37	10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(835-837)aGc>aAc		leucine zipper, putative tumor suppressor 2							25.0	31.0	29.0					10																	102763691		2198	4295	6493	SO:0001583	missense	84445	0	0					g.chr10:102763691G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.836G>A	chr10.hg19:g.102763691G>A	ENSP00000359240:p.Ser279Asn	0					LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N	p.S279N			1	2	3	2.008551				2	3899	+				Missense_Mutation	SNP	ENST00000370220.1	1	1	hg19	c.836G>A	CCDS7507.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769278	0.69992	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.51071	0.72;0.72	5.01	4.09	0.47781	5.01	4.09	0.47781	.	0.041017	0.85682	D	0.000000	T	0.30230	0.0758	N	0.20685	0.6	0.49915	D	0.999835	B	0.25904	0.137	B	0.21151	0.033	T	0.08452	-1.0721	9	.	.	.	-17.0117	12.8199	0.57688	0.0808:0.0:0.9192:0.0	.	279	Q9BRK4	LZTS2_HUMAN	N	279	ENSP00000359243:S279N;ENSP00000359240:S279N	.	S	+	2	0	0	LZTS2	102753681	102753681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.131000	0.64751	2.467000	0.83353	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	XM_046743			86	85		319	313	1		1	1		0	0	46	0		1	9.999999e-01	0	10	0	80	0	86	319
LZTS2	84445	broad.mit.edu	37	10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1114-1116)Ctg>Atg		leucine zipper, putative tumor suppressor 2							20.0	24.0	22.0					10																	102765260		2197	4289	6486	SO:0001583	missense	84445	0	0					g.chr10:102765260C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1114C>A	chr10.hg19:g.102765260C>A	ENSP00000359240:p.Leu372Met	0					LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M	p.L372M			1	2	3	2.008551				3	4177	+				Missense_Mutation	SNP	ENST00000370220.1	1	1	hg19	c.1114C>A	CCDS7507.1	1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152810	0.57259	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.53206	0.63;0.63	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.173586	0.37809	N	0.001924	T	0.61565	0.2357	M	0.80508	2.5	0.39210	D	0.96329	D	0.54601	0.967	P	0.57548	0.823	T	0.68337	-0.5435	10	0.72032	D	0.01	0.7177	8.2205	0.31539	0.0:0.8148:0.0:0.1851	.	372	Q9BRK4	LZTS2_HUMAN	M	372	ENSP00000359243:L372M;ENSP00000359240:L372M	ENSP00000314437:L372M	L	+	1	2	2	LZTS2	102755250	102755250	0.068000	0.21057	0.996000	0.52242	0.885000	0.51271	0.948000	0.29096	1.960000	0.56953	0.561000	0.74099	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	XM_046743			61	60		240	235	1		1	1		0	0	45	0		1	1	0	19	0	124	0	61	240
LZTS2	84445	broad.mit.edu	37	10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				22						c.(1543-1545)Cga>Tga		leucine zipper, putative tumor suppressor 2							10.0	13.0	12.0					10																	102766458		2190	4287	6477	SO:0001587	stop_gained	84445	0	0					g.chr10:102766458C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1543C>T	chr10.hg19:g.102766458C>T	ENSP00000359240:p.Arg515*	0					LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*	p.R515*			1	2	3	2.008551				4	4606	+				Nonsense_Mutation	SNP	ENST00000370220.1	0	1	hg19	c.1543C>T	CCDS7507.1	1	.	.	.	.	.	.	.	.	.	.	C	57	28.821900	0.99974	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9984	14.1048	0.65080	0.151:0.849:0.0:0.0	.	.	.	.	X	515	.	ENSP00000314437:R515X	R	+	1	2	2	LZTS2	102756448	102756448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.653000	0.46691	2.677000	0.91161	0.561000	0.74099	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	XM_046743			24	24		95	94	1		1	1		0	0	13	0		9.999999e-01	1	0	20	0	120	0	24	95
LZTS2	84445	broad.mit.edu	37	10	102766922	102766922	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1	1.000000	0.580000	1	8.200000e-01	0.990000	0.938598	0.990000	1.000000																										0				22						c.(2005-2007)atC>atA		leucine zipper, putative tumor suppressor 2							14.0	17.0	16.0					10																	102766922		2091	4088	6179	SO:0001819	synonymous_variant	84445	0	0					g.chr10:102766922C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.2007C>A	chr10.hg19:g.102766922C>A		0					LZTS2_ENST00000370223.3_Silent_p.I669I	p.I669I			1	2	3	2.008551				4	5070	+				Silent	SNP	ENST00000370220.1	0	1	hg19	c.2007C>A	CCDS7507.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-15.883340	1	0.170000	XM_046743			10	10		98	97	1		1	1		0	0	14	0		9.971988e-01	9.993452e-01	0	7	0	132	0	10	98
PDZD7	79955	broad.mit.edu	37	10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	467						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652																																						ENST00000370215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1399-1401)Ctg>Atg		PDZ domain containing 7							66.0	65.0	65.0					10																	102777979		2203	4300	6503	SO:0001583	missense	79955	0	0					g.chr10:102777979G>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1399C>A	chr10.hg19:g.102777979G>T	ENSP00000359234:p.Leu467Met	0						p.L467M	NM_024895.4	NP_079171.1	1	2	3	2.008551	Q9H5P4	PDZD7_HUMAN		9	1624	-			D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	1	1	hg19	c.1399C>A	CCDS31269.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908545	0.72868	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	4.12	4.12	0.48240	4.12	4.12	0.48240	.	0.953905	0.08577	N	0.925156	T	0.34135	0.0887	L	0.40543	1.245	0.28043	N	0.933661	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.24905	-1.0147	10	0.56958	D	0.05	.	14.3404	0.66622	0.0:0.0:1.0:0.0	.	467;467	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	467	ENSP00000359234:L467M	ENSP00000359234:L467M	L	-	1	2	2	PDZD7	102767969	102767969	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.358000	0.52284	2.117000	0.64856	0.555000	0.69702	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	1	0	1		2	2	2	0		0	0	101		101	97	1	2.060000	-20.000000	1	0.170000	NM_024895			81	79		390	386	1		1	1		0	0	101	0		1	3.478883e-01	0	4	0	3	0	81	390
PDZD7	79955	broad.mit.edu	37	10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	142	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647																																						ENST00000370215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(424-426)gaG>gaT		PDZ domain containing 7							79.0	66.0	70.0					10																	102783309		2203	4300	6503	SO:0001583	missense	79955	0	0					g.chr10:102783309C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.426G>T	chr10.hg19:g.102783309C>A	ENSP00000359234:p.Glu142Asp	0					PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	p.E142D	NM_024895.4	NP_079171.1	1	2	3	2.008551	Q9H5P4	PDZD7_HUMAN		4	651	-			D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	1	1	hg19	c.426G>T	CCDS31269.1	1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391612	0.42410	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.30182	1.54	5.05	2.2	0.27929	5.05	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25060	0.705	0.44890	D	0.997906	P;B	0.41947	0.766;0.096	P;B	0.50440	0.641;0.038	T	0.01352	-1.1377	10	0.36615	T	0.2	.	12.6631	0.56826	0.0:0.8225:0.0:0.1775	.	142;142	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	142	ENSP00000359234:E142D	ENSP00000359234:E142D	E	-	3	2	2	PDZD7	102773299	102773299	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	2.198000	0.42705	-0.039000	0.13602	-2.721000	0.00131	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.545186	1	0.170000	NM_024895			70	68		291	289	1		1	1		0	0	78	0		1	6.607483e-01	0	2	0	9	0	70	291
LBX1	10660	broad.mit.edu	37	10	102988278	102988278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	ENST00000370193.2	-	1	1273	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	99					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)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTGACCTCCAGCCCCTTAAAC	0.721																																						ENST00000370193.2	1.000000	0.770000	1	9.900000e-01	0.990000	0.986647	0.990000	1.000000																										0				7						c.(295-297)Ctg>Atg		ladybird homeobox 1							7.0	6.0	7.0					10																	102988278		2157	4199	6356	SO:0001583	missense	10660	0	0					g.chr10:102988278G>T	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.295C>A	chr10.hg19:g.102988278G>T	ENSP00000359212:p.Leu99Met	0					LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	p.L99M	NM_006562.4	NP_006553.2	1	2	3	2.008551	P52954	LBX1_HUMAN		1	1273	-		Colorectal(252;0.234)	B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	0	1	hg19	c.295C>A	CCDS31270.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522727	0.85600	.	.	ENSG00000138136	ENST00000370193	D	0.94376	-3.41	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.95996	0.8696	M	0.79475	2.455	0.58432	D	0.999997	D	0.71674	0.998	D	0.68765	0.96	D	0.94652	0.7840	10	0.24483	T	0.36	.	16.3882	0.83523	0.0:0.0:1.0:0.0	.	99	P52954	LBX1_HUMAN	M	99	ENSP00000359212:L99M	ENSP00000359212:L99M	L	-	1	2	2	LBX1	102978268	102978268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.411000	0.81874	0.561000	0.74099	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	0	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-11.903890	1	0.170000	NM_006562			4	4		12	12	1		1			0	0	8	0		8.994337e-01	0	0	0	0	0	0	4	12
BTRC	8945	broad.mit.edu	37	10	103285770	103285770	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000393441.4_Splice_Site_p.A145D|BTRC_ENST00000408038.2_Splice_Site_p.A150D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	186					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)			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)		CTACTGAAAGCTCGGGGATTG	0.438																																						ENST00000370187.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				27						c.(556-558)gCt>gAt		beta-transducin repeat containing E3 ubiquitin protein ligase							85.0	68.0	74.0					10																	103285770		2203	4300	6503	SO:0001630	splice_region_variant	8945	0	0					g.chr10:103285770C>A	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.557-1C>A	chr10.hg19:g.103285770C>A		0					BTRC_ENST00000393441.4_Splice_Site_p.A145D|BTRC_ENST00000408038.2_Splice_Site_p.A150D	p.A186D	NM_033637.3	NP_378663.1	1	2	3	2.008551	Q9Y297	FBW1A_HUMAN		6	675	+		Colorectal(252;0.234)	B5MD49|Q5W141|Q5W142|Q9Y213	Splice_Site	SNP	ENST00000370187.3	1	0	hg19	c.557C>A	CCDS7512.1	1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967622	0.53507	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.53	5.53	0.82687	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43757	1.38	0.80722	D	1	B;B;B	0.32350	0.336;0.28;0.366	B;B;B	0.34301	0.084;0.171;0.179	T	0.02156	-1.1204	9	.	.	.	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	160;150;186	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	D	186;145;150;168	ENSP00000359206:A186D;ENSP00000377088:A145D;ENSP00000385339:A150D;ENSP00000359202:A168D	.	A	+	2	0	0	BTRC	103275760	103275760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_033637	Missense_Mutation		27	25		117	113	1		1	1		0	0	38	0		1	9.993721e-01	0	17	0	37	0	27	117
POLL	27343	broad.mit.edu	37	10	103339447	103339447	+	Silent	SNP	G	G	A	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370158.3_Silent_p.S222S|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Silent_p.S234S|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000339310.3_Silent_p.S220S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	497	DNA binding.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607								DNA polymerases (catalytic subunits)																														ENST00000370162.3	1.000000	0.810000	1	9.200000e-01	0.990000	0.974126	0.990000	1.000000																										0				19						c.(1489-1491)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							79.0	79.0	79.0					10																	103339447		2203	4300	6503	SO:0001819	synonymous_variant	27343	32	121412	48				g.chr10:103339447G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1491C>T	chr10.hg19:g.103339447G>A		0					POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000456836.2_Silent_p.S234S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000463515.1_5'UTR	p.S497S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	1	2	3	2.008551	Q9UGP5	DPOLL_HUMAN		9	1985	-		Colorectal(252;0.234)	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	1	1	hg19	c.1491C>T	CCDS7513.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-15.398330	1	0.170000	NM_013274			56	56		576	570	0		1	1		0	0	102	0		1	9.012464e-01	0	6	0	37	0	56	576
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000339310.3_Missense_Mutation_p.R87H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														ENST00000370162.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1090-1092)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense	27343	1	121412	35				g.chr10:103342623C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	chr10.hg19:g.103342623C>T	ENSP00000359181:p.Arg364His	0					POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000463515.1_5'Flank	p.R364H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	1	2	3	2.008551	Q9UGP5	DPOLL_HUMAN		7	1585	-		Colorectal(252;0.234)	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	1	1	hg19	c.1091G>A	CCDS7513.1	1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	0	POLL	103332613	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_013274			97	94		338	329	1		1	1		0	0	88	0		1	9.999961e-01	0	6	0	59	0	97	338
POLL	27343	broad.mit.edu	37	10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	POLL_ENST00000370158.3_Missense_Mutation_p.K19N|DPCD_ENST00000370148.2_5'Flank|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370172.1_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000339310.3_Missense_Mutation_p.K17N	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	36	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483								DNA polymerases (catalytic subunits)																														ENST00000370162.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(106-108)Gaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							215.0	185.0	195.0					10																	103347012		2203	4300	6503	SO:0001587	stop_gained	27343	0	0					g.chr10:103347012C>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.106G>T	chr10.hg19:g.103347012C>A	ENSP00000359181:p.Glu36*	0					POLL_ENST00000370172.1_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000436284.2_Intron	p.E36*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	1	2	3	2.008551	Q9UGP5	DPOLL_HUMAN		2	600	-		Colorectal(252;0.234)	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	0	1	hg19	c.106G>T	CCDS7513.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488665|2.488665	0.44249|0.44249	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000413344;ENST00000430045|ENST00000339310;ENST00000370158;ENST00000456836;ENST00000429502	.|T;T;T;T	.|0.42131	.|0.98;2.46;2.4;0.98	5.05|5.05	4.15|4.15	0.48705|0.48705	5.05|5.05	4.15|4.15	0.48705|0.48705	.|.	1.271560|.	0.05127|.	N|.	0.491771|.	.|T	.|0.31104	.|0.0786	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B;B	.|0.31413	.|0.057;0.18;0.322	.|B;B;B	.|0.28553	.|0.019;0.025;0.091	.|T	.|0.17440	.|-1.0369	.|8	0.12766|0.48119	T|T	0.61|0.1	-6.2789|-6.2789	9.1991|9.1991	0.37246|0.37246	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|17;17;19	.|Q5JQP4;B4DEF5;Q9BTN8	.|.;.;.	X|N	36|17;19;17;17	.|ENSP00000343102:K17N;ENSP00000359177:K19N;ENSP00000390810:K17N;ENSP00000406791:K17N	ENSP00000299206:E36X|ENSP00000343102:K17N	E|K	-|-	1|3	0|2	0|2	POLL|POLL	103337002|103337002	103337002|103337002	0.186000|0.186000	0.23225|0.23225	0.010000|0.010000	0.14722|0.14722	0.049000|0.049000	0.14656|0.14656	1.336000|1.336000	0.33850|0.33850	1.143000|1.143000	0.42306|0.42306	-0.253000|-0.253000	0.11424|0.11424	GAA|AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_013274			124	122		553	542	0		1	1		0	0	121	0		1	9.974879e-01	0	6	0	36	0	124	553
FBXW4	6468	broad.mit.edu	37	10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	253					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.S253>?(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468																																						ENST00000331272.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Complex(1)	p.S253>?(1)	large_intestine(1)	15						c.(757-759)aGc>aTc		F-box and WD repeat domain containing 4							141.0	141.0	141.0					10																	103427655		2203	4300	6503	SO:0001583	missense	6468	0	0					g.chr10:103427655C>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.758G>T	chr10.hg19:g.103427655C>A	ENSP00000359149:p.Ser253Ile	0						p.S253I	NM_022039.3	NP_071322.1	1	2	3	2.008551	P57775	FBXW4_HUMAN		5	1376	-		Colorectal(252;0.123)	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	1	1	hg19	c.758G>T	CCDS31271.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434945	0.83885	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.22945	1.93	5.75	5.75	0.90469	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076593	0.85682	D	0.000000	T	0.46483	0.1395	M	0.74647	2.275	0.58432	D	0.999993	D	0.67145	0.996	P	0.59171	0.853	T	0.42413	-0.9453	10	0.72032	D	0.01	-20.1976	13.5087	0.61499	0.0:0.9286:0.0:0.0714	.	253	P57775	FBXW4_HUMAN	I	253;253;166;209	ENSP00000359149:S253I	ENSP00000359149:S253I	S	-	2	0	0	FBXW4	103417645	103417645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000	NM_022039			121	118		548	539	1		1	1		0	0	161	0		1	1	0	59	0	185	0	121	548
FGF8	2253	broad.mit.edu	37	10	103530353	103530353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103530353G>A	ENST00000344255.3	-	6	434	c.435C>T	c.(433-435)tgC>tgT	p.C145C	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.C116C|FGF8_ENST00000347978.2_Silent_p.C127C|FGF8_ENST00000320185.2_Silent_p.C156C			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	145					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCGTGAAGACGCAGTCCTTGC	0.632																																						ENST00000344255.3	1.000000	0.130000	4.500000e-01	2.000000e-01	0.300000	0.362333	0.300000	0.270000																										0				5						c.(433-435)tgC>tgT		fibroblast growth factor 8 (androgen-induced)							93.0	69.0	77.0					10																	103530353		2203	4300	6503	SO:0001819	synonymous_variant	2253	1	121412	34				g.chr10:103530353G>A	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.435C>T	chr10.hg19:g.103530353G>A		0					FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Silent_p.C127C|FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000346714.3_Silent_p.C116C	p.C145C			1	2	3	2.008551	P55075	FGF8_HUMAN		6	434	-		Colorectal(252;0.122)	A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	0	1	hg19	c.435C>T	CCDS7517.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.287632	1	0.170000	NM_006119, NM_033165			8	8		334	329	0		1			0	0	52	0		9.889302e-01	0	0	0	0	0	0	8	334
NPM3	10360	broad.mit.edu	37	10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577																																						ENST00000370110.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999445	0.990000	1.000000																										0				5						c.(319-321)cCc>cTc		nucleophosmin/nucleoplasmin 3							135.0	119.0	124.0					10																	103542239		2203	4300	6503	SO:0001583	missense	10360	0	0					g.chr10:103542239G>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.320C>T	chr10.hg19:g.103542239G>A	ENSP00000359128:p.Pro107Leu	0					NPM3_ENST00000474993.1_5'UTR	p.P107L	NM_006993.2	NP_008924.1	1	2	3	2.008551	O75607	NPM3_HUMAN		3	342	-		Colorectal(252;0.122)	Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	1	1	hg19	c.320C>T	CCDS7519.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633242	0.87660	.	.	ENSG00000107833	ENST00000370110	T	0.53423	0.62	5.45	5.45	0.79879	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.39245	1.2	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.47262	-0.9131	10	0.66056	D	0.02	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	L	107	ENSP00000359128:P107L	ENSP00000359128:P107L	P	-	2	0	0	NPM3	103532229	103532229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-11.416280	1	0.170000	NM_006993			15	14		72	69	1		1	1		0	0	28	0		9.998882e-01	1	0	109	0	188	0	15	72
MGEA5	10724	broad.mit.edu	37	10	103559127	103559127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000357797.5_Silent_p.T374T|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000439817.1_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	427					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453																																						ENST00000361464.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1279-1281)acC>acT		meningioma expressed antigen 5 (hyaluronidase)							117.0	123.0	121.0					10																	103559127		2203	4300	6503	SO:0001819	synonymous_variant	10724	4	121412	38				g.chr10:103559127G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1281C>T	chr10.hg19:g.103559127G>A		0					MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000357797.5_Silent_p.T374T	p.T427T	NM_012215.3	NP_036347.1	1	2	3	2.008551	O60502	OGA_HUMAN		9	1676	-		Colorectal(252;0.207)	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	1	1	hg19	c.1281C>T	CCDS7520.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-2.531394	1	0.170000	NM_012215			153	150		647	633	1		1	1		0	0	135	0		1	1	0	63	0	93	0	153	647
MGEA5	10724	broad.mit.edu	37	10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	233					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353																																						ENST00000361464.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(697-699)taT>taG		meningioma expressed antigen 5 (hyaluronidase)							64.0	61.0	62.0					10																	103565854		2203	4300	6503	SO:0001587	stop_gained	10724	0	0					g.chr10:103565854A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.699T>G	chr10.hg19:g.103565854A>C	ENSP00000354850:p.Tyr233*	0					MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*	p.Y233*	NM_012215.3	NP_036347.1	1	2	3	2.008551	O60502	OGA_HUMAN		6	1094	-		Colorectal(252;0.207)	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	0	1	hg19	c.699T>G	CCDS7520.1	1	.	.	.	.	.	.	.	.	.	.	A	37	6.507353	0.97624	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.27	0.378	0.16204	5.27	0.378	0.16204	.	0.130087	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5857	8.4558	0.32899	0.6723:0.0:0.3277:0.0	.	.	.	.	X	233	.	ENSP00000350445:Y233X	Y	-	3	2	2	MGEA5	103555844	103555844	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.082000	0.30803	-0.170000	0.10816	0.529000	0.55759	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_012215			54	53		178	171	1		1	1		0	0	36	0		1	1	0	9	0	88	0	54	178
MGEA5	10724	broad.mit.edu	37	10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	176					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353																																						ENST00000361464.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(526-528)Ata>Gta		meningioma expressed antigen 5 (hyaluronidase)							139.0	145.0	143.0					10																	103567613		2203	4300	6503	SO:0001583	missense	10724	0	0					g.chr10:103567613T>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.526A>G	chr10.hg19:g.103567613T>C	ENSP00000354850:p.Ile176Val	0					MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V	p.I176V	NM_012215.3	NP_036347.1	1	2	3	2.008551	O60502	OGA_HUMAN		5	921	-		Colorectal(252;0.207)	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	1	1	hg19	c.526A>G	CCDS7520.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369227	0.82463	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.41758	1.1;1.03;1.13;0.99	5.35	5.35	0.76521	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.70935	0.923;0.921;0.966;0.971	T	0.66618	-0.5878	10	0.87932	D	0	-19.0523	15.6177	0.76780	0.0:0.0:0.0:1.0	.	176;176;176;176	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	176;176;176;176;124	ENSP00000409973:I176V;ENSP00000354850:I176V;ENSP00000350445:I176V;ENSP00000359112:I176V	ENSP00000350445:I176V	I	-	1	0	0	MGEA5	103557603	103557603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.156000	0.67533	0.477000	0.44152	ATA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_012215			144	142		629	612	1		1	1		0	0	140	0		1	1	0	44	0	81	0	144	629
C10orf76	79591	broad.mit.edu	37	10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	330						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483																																						ENST00000370033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(988-990)gTc>gCc		chromosome 10 open reading frame 76							127.0	136.0	133.0					10																	103766356		1967	4164	6131	SO:0001583	missense	79591	0	0					g.chr10:103766356A>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.989T>C	chr10.hg19:g.103766356A>G	ENSP00000359050:p.Val330Ala	0						p.V330A	NM_024541.2	NP_078817.2	1	2	3	2.008551	Q5T2E6	CJ076_HUMAN		14	1108	-		Colorectal(252;0.123)	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	1	1	hg19	c.989T>C	CCDS41563.1	1	.	.	.	.	.	.	.	.	.	.	A	4.934	0.173538	0.09391	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	3.4	0.38934	5.92	3.4	0.38934	.	0.576877	0.19762	N	0.106659	T	0.13756	0.0333	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.08381	T	0.77	-7.7272	2.1276	0.03742	0.5865:0.1339:0.1506:0.129	.	330	Q5T2E6	CJ076_HUMAN	A	330	.	ENSP00000359050:V330A	V	-	2	0	0	C10orf76	103756346	103756346	0.292000	0.24362	1.000000	0.80357	0.935000	0.57460	1.817000	0.39002	1.020000	0.39573	0.533000	0.62120	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_024541			103	103		444	439	1		1	1		0	0	107	0		1	9.999902e-01	0	28	0	45	0	103	444
C10orf76	79591	broad.mit.edu	37	10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	211						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458																																						ENST00000370033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(631-633)Gtc>Atc		chromosome 10 open reading frame 76							119.0	116.0	117.0					10																	103783272		1940	4149	6089	SO:0001583	missense	79591	1	120856	26				g.chr10:103783272C>T	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.631G>A	chr10.hg19:g.103783272C>T	ENSP00000359050:p.Val211Ile	0						p.V211I	NM_024541.2	NP_078817.2	1	2	3	2.008551	Q5T2E6	CJ076_HUMAN		8	750	-		Colorectal(252;0.123)	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	1	1	hg19	c.631G>A	CCDS41563.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.34521	1.04	0.80722	D	1	B	0.33345	0.409	B	0.22753	0.041	T	0.39941	-0.9589	9	0.29301	T	0.29	-12.1907	18.8547	0.92247	0.0:1.0:0.0:0.0	.	211	Q5T2E6	CJ076_HUMAN	I	211	.	ENSP00000359050:V211I	V	-	1	0	0	C10orf76	103773262	103773262	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.480000	0.81109	2.526000	0.85167	0.467000	0.42956	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_024541			65	64		326	322	1		1	1		0	0	66	0		1	9.999362e-01	0	25	0	48	0	65	326
LDB1	8861	broad.mit.edu	37	10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000425280.1	-	8	1005	c.663G>T	c.(661-663)caG>caT	p.Q221H	LDB1_ENST00000361198.5_Missense_Mutation_p.Q185H|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	221					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)			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)		GATCCAACATCTGGGGGTCTT	0.532																																						ENST00000425280.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(661-663)caG>caT		LIM domain binding 1							95.0	98.0	97.0					10																	103869426		2203	4300	6503	SO:0001583	missense	8861	0	0					g.chr10:103869426C>A	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.663G>T	chr10.hg19:g.103869426C>A	ENSP00000392466:p.Gln221His	0					LDB1_ENST00000361198.5_Missense_Mutation_p.Q185H|LDB1_ENST00000490751.1_5'Flank	p.Q221H	NM_001113407.1	NP_001106878.1	1	2	3	2.008551	Q86U70	LDB1_HUMAN		8	1005	-		Colorectal(252;0.122)	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	1	1	hg19	c.663G>T	CCDS44472.1	1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318692	0.60524	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.67	4.77	0.60923	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.991;0.993	D;P	0.78314	0.991;0.77	T	0.64241	-0.6454	9	0.51188	T	0.08	-21.565	10.9601	0.47381	0.0:0.8573:0.0:0.1427	.	221;185	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	185;221	.	ENSP00000354616:Q185H	Q	-	3	2	2	LDB1	103859416	103859416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.162000	0.42367	1.416000	0.47057	-0.448000	0.05591	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_001113407			50	48		274	263	1		1	1		0	0	81	0		1	1	0	29	0	196	0	50	274
PPRC1	23082	broad.mit.edu	37	10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	784	Pro-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567																																						ENST00000278070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2350-2352)gAg>gCg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							85.0	91.0	89.0					10																	103900616		2203	4300	6503	SO:0001583	missense	23082	0	0					g.chr10:103900616A>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2351A>C	chr10.hg19:g.103900616A>C	ENSP00000278070:p.Glu784Ala	0					PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A|PPRC1_ENST00000370012.1_5'Flank	p.E784A	NM_015062.3	NP_055877.3	1	2	3	2.008551	Q5VV67	PPRC1_HUMAN		5	2390	+		Colorectal(252;0.122)	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	1	1	hg19	c.2351A>C	CCDS7529.1	1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869727	0.51588	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36520	1.34;1.25	5.41	4.21	0.49690	5.41	4.21	0.49690	.	0.278437	0.31071	N	0.008315	T	0.44350	0.1289	L	0.34521	1.04	0.39246	D	0.963949	D;D;D	0.65815	0.991;0.995;0.991	P;D;P	0.64144	0.876;0.922;0.838	T	0.41752	-0.9491	10	0.46703	T	0.11	.	12.1932	0.54282	0.8725:0.0:0.0:0.1275	.	784;664;784	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	784	ENSP00000278070:E784A;ENSP00000399743:E784A	ENSP00000278070:E784A	E	+	2	0	0	PPRC1	103890606	103890606	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.134000	0.64770	2.184000	0.69523	0.459000	0.35465	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_015062			116	114		428	417	1		1	1		0	0	108	0		1	9.999999e-01	0	36	0	53	0	116	428
PPRC1	23082	broad.mit.edu	37	10	103901019	103901019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	918	Pro-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597																																						ENST00000278070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2752-2754)gcC>gcT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							188.0	125.0	146.0					10																	103901019		2203	4300	6503	SO:0001819	synonymous_variant	23082	0	0					g.chr10:103901019C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2754C>T	chr10.hg19:g.103901019C>T		0					PPRC1_ENST00000413464.2_Silent_p.A918A|PPRC1_ENST00000370012.1_5'Flank	p.A918A	NM_015062.3	NP_055877.3	1	2	3	2.008551	Q5VV67	PPRC1_HUMAN		5	2793	+		Colorectal(252;0.122)	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	1	1	hg19	c.2754C>T	CCDS7529.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_015062			79	76		381	368	1		1	1		0	0	70	0		1	9.997932e-01	0	18	0	44	0	79	381
PPRC1	23082	broad.mit.edu	37	10	103908144	103908144	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908144C>A	ENST00000278070.2	+	10	4455	c.4416C>A	c.(4414-4416)tcC>tcA	p.S1472S	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1472	Arg-rich.|Ser-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTGTAGTTCCTCTGGACGTT	0.527																																						ENST00000278070.2	1.000000	0.180000	4.900000e-01	2.500000e-01	0.340000	0.401841	0.340000	0.320000																										0				56						c.(4414-4416)tcC>tcA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							175.0	120.0	139.0					10																	103908144		2203	4300	6503	SO:0001819	synonymous_variant	23082	0	0					g.chr10:103908144C>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4416C>A	chr10.hg19:g.103908144C>A		0					PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S|PPRC1_ENST00000489648.1_3'UTR	p.S1472S	NM_015062.3	NP_055877.3	1	2	3	2.008551	Q5VV67	PPRC1_HUMAN		10	4455	+		Colorectal(252;0.122)	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	0	1	hg19	c.4416C>A	CCDS7529.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-2.936669	1	0.170000	NM_015062			12	12		423	416	0		1	1		0	0	99	0		9.990519e-01	8.535655e-01	0	13	0	111	0	12	423
PPRC1	23082	broad.mit.edu	37	10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A	rs370946381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1556	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488																																						ENST00000278070.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				56						c.(4666-4668)cGa>cAa		peroxisome proliferator-activated receptor gamma, coactivator-related 1		G	GLN/ARG	0,4406		0,0,2203	89.0	87.0	88.0		4667	5.7	1.0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPRC1	NM_015062.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1556/1665	103908623	1,13005	2203	4300	6503	SO:0001583	missense	23082	14	121412	40				g.chr10:103908623G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4667G>A	chr10.hg19:g.103908623G>A	ENSP00000278070:p.Arg1556Gln	0					PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q|PPRC1_ENST00000489648.1_3'UTR	p.R1556Q	NM_015062.3	NP_055877.3	1	2	3	2.008551	Q5VV67	PPRC1_HUMAN		12	4706	+		Colorectal(252;0.122)	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	1	1	hg19	c.4667G>A	CCDS7529.1	1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291454	0.80914	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.15256	2.44;2.44;2.44	5.73	5.73	0.89815	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055167	0.64402	D	0.000001	T	0.28532	0.0706	L	0.27053	0.805	0.28658	N	0.906283	D;D;P	0.64830	0.99;0.994;0.915	D;P;P	0.64595	0.927;0.737;0.48	T	0.03910	-1.0993	10	0.56958	D	0.05	.	16.1782	0.81884	0.0:0.1331:0.8669:0.0	.	1292;1434;1556	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1556;1292;523	ENSP00000278070:R1556Q;ENSP00000399743:R1292Q;ENSP00000359029:R523Q	ENSP00000278070:R1556Q	R	+	2	0	0	PPRC1	103898613	103898613	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.704000	0.92352	0.549000	0.68633	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-19.987940	1	0.170000	NM_015062			43	42		234	230	1		1	1		0	0	35	0		1	1	0	50	0	131	0	43	234
NOLC1	9221	broad.mit.edu	37	10	103921395	103921395	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000605788.1	+	11	2059	c.1824T>C	c.(1822-1824)ccT>ccC	p.P608P	NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000405356.1_Silent_p.P618P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	608					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCAGACCCCTAACACATTTC	0.428																																						ENST00000605788.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(1822-1824)ccT>ccC		nucleolar and coiled-body phosphoprotein 1							40.0	36.0	37.0					10																	103921395		2203	4300	6503	SO:0001819	synonymous_variant	9221	0	0					g.chr10:103921395T>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1824T>C	chr10.hg19:g.103921395T>C		0					NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000405356.1_Silent_p.P618P|NOLC1_ENST00000603742.1_Silent_p.P327P	p.P608P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	1	2	3	2.008551	Q14978	NOLC1_HUMAN		11	2059	+		Colorectal(252;0.122)	Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	1	1	hg19	c.1824T>C	CCDS7530.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_004741			33	30		140	137	1		1	1		0	0	46	0		1	1	0	178	0	242	0	33	140
ELOVL3	83401	broad.mit.edu	37	10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	15					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532																																						ENST00000370005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(43-45)Ttc>Ctc		ELOVL fatty acid elongase 3							118.0	98.0	105.0					10																	103986348		2203	4300	6503	SO:0001583	missense	83401	0	0					g.chr10:103986348T>C	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.43T>C	chr10.hg19:g.103986348T>C	ENSP00000359022:p.Phe15Leu	0						p.F15L	NM_152310.1	NP_689523.1	1	2	3	2.008551	Q9HB03	ELOV3_HUMAN		1	264	+		Colorectal(252;0.207)	Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	1	1	hg19	c.43T>C	CCDS7531.1	1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307660	0.10733	.	.	ENSG00000119915	ENST00000370005	T	0.20881	2.04	4.62	-1.08	0.09936	4.62	-1.08	0.09936	.	4.602870	0.00397	N	0.000058	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.06891	T	0.86	.	2.6472	0.04987	0.4086:0.2442:0.0:0.3472	.	15	Q9HB03	ELOV3_HUMAN	L	15	ENSP00000359022:F15L	ENSP00000359022:F15L	F	+	1	0	0	ELOVL3	103976338	103976338	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.262000	0.08682	-0.015000	0.14150	0.459000	0.35465	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_152310			82	78		405	399	1		1	0		0	0	78	0		1	7.721743e-02	0	0	0	3	0	82	405
PITX3	5309	broad.mit.edu	37	10	103991721	103991721	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	39					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	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)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCGCTTACCGCTGTGCTCCT	0.716																																						ENST00000370002.3	1.000000	0.570000	1	7.400000e-01	0.960000	0.898988	0.960000	1.000000																										0				5						c.(115-117)agC>agT		paired-like homeodomain 3							16.0	20.0	18.0					10																	103991721		2193	4285	6478	SO:0001630	splice_region_variant	5309	0	0					g.chr10:103991721G>A		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.118+1C>T	chr10.hg19:g.103991721G>A		0					PITX3_ENST00000539804.1_Splice_Site_p.S39S	p.S39S	NM_005029.3	NP_005020.1	1	2	3	2.008551	O75364	PITX3_HUMAN		2	270	-		Colorectal(252;0.00957)	Q5VZL2	Splice_Site	SNP	ENST00000370002.3	1	0	hg19	c.117C>T	CCDS7532.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.954110	1	0.170000		Silent		16	16		187	187	0		1			0	0	46	0		9.999446e-01	0	0	0	0	0	0	16	187
GBF1	8729	broad.mit.edu	37	10	104119161	104119161	+	Silent	SNP	C	C	T	rs535374345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	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	382					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)			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)		ATCCCCGGGGCGTGCGCTTTA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20277	0.0		0.0	False		,,,				2504	0.001					ENST00000369983.3	1.000000	0.360000	8.600000e-01	4.800000e-01	0.640000	0.667564	0.640000	0.600000																										0				71						c.(1144-1146)ggC>ggT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							142.0	108.0	119.0					10																	104119161		2203	4300	6503	SO:0001819	synonymous_variant	8729	8	121412	38				g.chr10:104119161C>T	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.1146C>T	chr10.hg19:g.104119161C>T		0					GBF1_ENST00000476019.1_3'UTR	p.G382G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	1	2	3	2.008551	Q92538	GBF1_HUMAN		11	1406	+		Colorectal(252;0.0236)	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	1	1	hg19	c.1146C>T	CCDS7533.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.228775	1	0.170000				15	14		275	267	0		1	1		0	0	53	0		9.998515e-01	9.645248e-01	0	7	0	97	0	15	275
GBF1	8729	broad.mit.edu	37	10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		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	516					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)			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)		ATGCCTTATGAGATGAAGGAG	0.473																																						ENST00000369983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1546-1548)gAg>gGg		golgi brefeldin A resistant guanine nucleotide exchange factor 1							137.0	121.0	126.0					10																	104121533		2203	4300	6503	SO:0001583	missense	8729	0	0					g.chr10:104121533A>G	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.1547A>G	chr10.hg19:g.104121533A>G	ENSP00000359000:p.Glu516Gly	0						p.E516G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	1	2	3	2.008551	Q92538	GBF1_HUMAN		14	1807	+		Colorectal(252;0.0236)	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	1	1	hg19	c.1547A>G	CCDS7533.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.211557	0.95069	.	.	ENSG00000107862	ENST00000369983	T	0.47528	0.84	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90425	3.115	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;P;D	0.91635	0.999;0.741;0.998	T	0.80082	-0.1531	10	0.62326	D	0.03	-20.0851	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	516	ENSP00000359000:E516G	ENSP00000359000:E516G	E	+	2	0	0	GBF1	104111523	104111523	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.305000	0.96197	2.371000	0.80710	0.533000	0.62120	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				57	55		304	300	1		1	1		0	0	88	0		1	9.999910e-01	0	30	0	63	0	57	304
GBF1	8729	broad.mit.edu	37	10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		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	1408					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)			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)		CACATCACACCTGACAACTTT	0.552																																						ENST00000369983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(4222-4224)cCt>cAt		golgi brefeldin A resistant guanine nucleotide exchange factor 1							89.0	84.0	85.0					10																	104136495		2203	4300	6503	SO:0001583	missense	8729	0	0					g.chr10:104136495C>A	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.4223C>A	chr10.hg19:g.104136495C>A	ENSP00000359000:p.Pro1408His	0						p.P1408H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	1	2	3	2.008551	Q92538	GBF1_HUMAN		32	4483	+		Colorectal(252;0.0236)	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	1	1	hg19	c.4223C>A	CCDS7533.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582242	0.86748	.	.	ENSG00000107862	ENST00000369983	T	0.34667	1.35	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.96	T	0.70769	-0.4782	10	0.87932	D	0	-11.9933	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1408;1408;1408	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1408	ENSP00000359000:P1408H	ENSP00000359000:P1408H	P	+	2	0	0	GBF1	104126485	104126485	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-3.298594	1	0.170000				78	78		324	319	1		1	1		0	0	67	0		1	1	0	26	0	124	0	78	324
GBF1	8729	broad.mit.edu	37	10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		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	1413					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)			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)		CAACTTTGAGCTCTGCGTCAA	0.547																																						ENST00000369983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(4237-4239)Ctc>Ttc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							79.0	76.0	77.0					10																	104136509		2203	4300	6503	SO:0001583	missense	8729	0	0					g.chr10:104136509C>T	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.4237C>T	chr10.hg19:g.104136509C>T	ENSP00000359000:p.Leu1413Phe	0						p.L1413F	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	1	2	3	2.008551	Q92538	GBF1_HUMAN		32	4497	+		Colorectal(252;0.0236)	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	1	1	hg19	c.4237C>T	CCDS7533.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032462	0.54790	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.995	P;P;P	0.59221	0.854;0.733;0.795	T	0.04551	-1.0943	10	0.09843	T	0.71	-13.8769	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1413;1413;1413	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1413	ENSP00000359000:L1413F	ENSP00000359000:L1413F	L	+	1	0	0	GBF1	104126499	104126499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				64	64		276	272	1		1	1		0	0	58	0		1	1	0	29	0	99	0	64	276
NFKB2	4791	broad.mit.edu	37	10	104156690	104156690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000428099.1_Silent_p.I91I|NFKB2_ENST00000189444.6_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	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)			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)	CAGCCAAGATCGAGGTGGACC	0.597			T	IGH@	B-NHL																																	ENST00000369966.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q24	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)				L	L	IGH@		B-NHL		0				23						c.(271-273)atC>atT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)						71.0	75.0	74.0					10																	104156690		2081	4216	6297	SO:0001819	synonymous_variant	4791	3	121028	33				g.chr10:104156690C>T	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.273C>T	chr10.hg19:g.104156690C>T		0					NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	p.I91I	NM_001077494.2	NP_001070962.1	1	2	3	2.008551	Q00653	NFKB2_HUMAN		6	523	+		Colorectal(252;0.00957)	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	1	1	hg19	c.273C>T	CCDS41564.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				41	39		173	172	1		1	1		0	0	49	0		1	1	0	90	0	180	0	41	173
NFKB2	4791	broad.mit.edu	37	10	104157352	104157352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104157352C>T	ENST00000369966.3	+	8	821	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W|NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	191	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)			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)	GAGTATAGTGCGGCTGCGCTT	0.582			T	IGH@	B-NHL																																	ENST00000369966.3	1.000000	0.120000	2.700000e-01	1.500000e-01	0.200000	0.271788	0.200000	0.200000				Dom	yes			Dom	yes		10	10q24	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)				L	L	IGH@		B-NHL		0				23						c.(571-573)Cgg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)						189.0	221.0	210.0					10																	104157352		2111	4225	6336	SO:0001583	missense	4791	0	0					g.chr10:104157352C>T	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.571C>T	chr10.hg19:g.104157352C>T	ENSP00000358983:p.Arg191Trp	0					NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W	p.R191W	NM_001077494.2	NP_001070962.1	1	2	3	2.008551	Q00653	NFKB2_HUMAN		8	821	+		Colorectal(252;0.00957)	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	0	1	hg19	c.571C>T	CCDS41564.1	0	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593452	0.66219	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.03	0.46877	4.95	4.03	0.46877	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.90814	3.15	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	0.84191	0.0445	10	0.87932	D	0	.	14.3684	0.66823	0.1573:0.8427:0.0:0.0	.	191;191;191	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	W	191	ENSP00000410256:R191W;ENSP00000358983:R191W;ENSP00000189444:R191W	ENSP00000189444:R191W	R	+	1	2	2	NFKB2	104147342	104147342	0.838000	0.29461	0.935000	0.37517	0.928000	0.56348	1.063000	0.30567	1.035000	0.39972	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2	0	0	1		2	2	2	0		0	0	196		196	193	1	2.060000	-2.430630	0	0.170000				20	20		1173	1156	0		1	1		0	0	196	0		9.999941e-01	9.441080e-01	0	7	0	277	0	20	1173
CUEDC2	79004	broad.mit.edu	37	10	104183780	104183780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	189						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597																																						ENST00000369937.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(565-567)ggG>ggA		CUE domain containing 2							32.0	35.0	34.0					10																	104183780		1917	4117	6034	SO:0001819	synonymous_variant	79004	0	0					g.chr10:104183780C>T	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.567G>A	chr10.hg19:g.104183780C>T		0					CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	p.G189G	NM_024040.2	NP_076945.2	1	2	3	2.008551	Q9H467	CUED2_HUMAN		6	712	-		Colorectal(252;0.122)	D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	1	1	hg19	c.567G>A	CCDS41566.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_024040			50	50		226	221	1		1	1		0	0	41	0		1	1	0	96	0	269	0	50	226
TMEM180	79847	broad.mit.edu	37	10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	115						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692																																						ENST00000238936.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(343-345)gCg>gTg		transmembrane protein 180							69.0	73.0	72.0					10																	104230514		2203	4300	6503	SO:0001583	missense	79847	1	121406	36				g.chr10:104230514C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.344C>T	chr10.hg19:g.104230514C>T	ENSP00000238936:p.Ala115Val	0					TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	p.A115V	NM_024789.3	NP_079065.2	1	2	3	2.008551	Q14CX5	TM180_HUMAN		5	581	+		Colorectal(252;0.122)	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	1	1	hg19	c.344C>T	CCDS7535.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537501	0.45176	.	.	ENSG00000138111	ENST00000238936	D	0.83163	-1.69	5.29	4.39	0.52855	5.29	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.048256	0.85682	N	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.71876	-0.4460	10	0.19590	T	0.45	.	13.7692	0.63015	0.0:0.9256:0.0:0.0744	.	115	Q14CX5	TM180_HUMAN	V	115	ENSP00000238936:A115V	ENSP00000238936:A115V	A	+	2	0	0	TMEM180	104220504	104220504	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.901000	0.63259	1.220000	0.43490	0.511000	0.50034	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_024789			182	180		697	690	0		1	1		0	0	142	0		1	8.931257e-01	0	2	0	15	0	182	697
SUFU	51684	broad.mit.edu	37	10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000423559.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000369899.2_Missense_Mutation_p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	165					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Medulloblastoma predisposition	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	10q24.32	51684	D, F, S	suppressor of fused homolog (Drosophila)				O	O		medulloblastoma	medulloblastoma		0				24						c.(493-495)aGc>aTc		suppressor of fused homolog (Drosophila)							130.0	118.0	122.0					10																	104352378		2203	4300	6503	SO:0001583	missense	51684	0	0		Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		g.chr10:104352378G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.494G>T	chr10.hg19:g.104352378G>T	ENSP00000358918:p.Ser165Ile	0					SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I	p.S165I	NM_016169.3	NP_057253.2	1	2	3	2.008551	Q9UMX1	SUFU_HUMAN		4	660	+		Colorectal(252;0.207)	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	1	1	hg19	c.494G>T	CCDS7537.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727188	0.89390	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82711	-1.64;-1.64;-1.64	5.35	5.35	0.76521	5.35	5.35	0.76521	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	L	0.52573	1.65	0.80722	D	1	D;D;D	0.60575	0.985;0.982;0.988	P;P;P	0.49047	0.599;0.464;0.533	D	0.84571	0.0655	10	0.45353	T	0.12	-21.1564	19.0711	0.93136	0.0:0.0:1.0:0.0	.	165;165;165	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	165	ENSP00000358918:S165I;ENSP00000358915:S165I;ENSP00000411597:S165I	ENSP00000358915:S165I	S	+	2	0	0	SUFU	104342368	104342368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.506000	0.84524	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_016169			122	121		482	476	1		1	1		0	0	140	0		1	9.725133e-01	0	4	0	21	0	122	482
TRIM8	81603	broad.mit.edu	37	10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	345					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597																																						ENST00000302424.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				15						c.(1033-1035)Cgg>Tgg		tripartite motif containing 8		C	TRP/ARG	0,4406		0,0,2203	41.0	33.0	36.0		1033	3.4	1.0	10	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM8	NM_030912.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	345/552	104416127	1,13005	2203	4300	6503	SO:0001583	missense	81603	1	121410	28				g.chr10:104416127C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1033C>T	chr10.hg19:g.104416127C>T	ENSP00000302120:p.Arg345Trp	0					TRIM8_ENST00000487927.1_3'UTR	p.R345W	NM_030912.2	NP_112174.2	1	2	3	2.008551	Q9BZR9	TRIM8_HUMAN		5	1155	+		Colorectal(252;0.122)	A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	1	1	hg19	c.1033C>T	CCDS31274.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842550	0.71488	0.0	1.16E-4	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79653	-1.29	5.41	3.37	0.38596	5.41	3.37	0.38596	.	0.104805	0.64402	D	0.000004	T	0.75961	0.3921	N	0.24115	0.695	0.46185	D	0.998918	D	0.69078	0.997	P	0.50378	0.639	T	0.79806	-0.1648	10	0.66056	D	0.02	.	14.8214	0.70077	0.3272:0.6728:0.0:0.0	.	345	Q9BZR9	TRIM8_HUMAN	W	345;344	ENSP00000302120:R345W	ENSP00000302120:R345W	R	+	1	2	2	TRIM8	104406117	104406117	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.259000	0.44117	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_030912			24	24		100	97	1		1	1		0	0	37	0		9.999998e-01	1	0	78	0	279	0	24	100
CYP17A1	1586	broad.mit.edu	37	10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	210					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369887.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(628-630)aGc>aTc		cytochrome P450, family 17, subfamily A, polypeptide 1	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)						205.0	179.0	188.0					10																	104594579		2203	4300	6503	SO:0001583	missense	1586	0	0					g.chr10:104594579C>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.629G>T	chr10.hg19:g.104594579C>A	ENSP00000358903:p.Ser210Ile	0		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	p.S210I	NM_000102.3	NP_000093.1	1	2	3	2.008551	P05093	CP17A_HUMAN		3	800	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	1	1	hg19	c.629G>T	CCDS7541.1	1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464642	0.63513	.	.	ENSG00000148795	ENST00000369887	T	0.70045	-0.45	5.8	-5.97	0.02227	5.8	-5.97	0.02227	.	0.583949	0.18293	N	0.145653	T	0.54549	0.1865	L	0.39147	1.195	0.09310	N	1	P	0.38565	0.637	P	0.47705	0.555	T	0.52704	-0.8540	10	0.48119	T	0.1	.	3.7562	0.08586	0.0791:0.2916:0.1865:0.4427	.	210	P05093	CP17A_HUMAN	I	210	ENSP00000358903:S210I	ENSP00000358903:S210I	S	-	2	0	0	CYP17A1	104584569	104584569	0.453000	0.25721	0.000000	0.03702	0.002000	0.02628	1.205000	0.32308	-0.686000	0.05170	-0.358000	0.07595	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_000102			74	71		389	382	1		1			0	0	119	0		1	0	0	0	0	0	0	74	389
AS3MT	57412	broad.mit.edu	37	10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	309					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358																																						ENST00000369880.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(925-927)Atc>Gtc		arsenite methyltransferase							116.0	109.0	112.0					10																	104650340		1837	4081	5918	SO:0001583	missense	57412	0	0					g.chr10:104650340A>G	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.925A>G	chr10.hg19:g.104650340A>G	ENSP00000358896:p.Ile309Val	0					C10orf32-ASMT_ENST00000299353.6_3'UTR	p.I309V	NM_020682.3	NP_065733.2	1	2	3	2.008551	Q9HBK9	AS3MT_HUMAN		10	1002	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	1	1	hg19	c.925A>G	CCDS41567.1	1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935135	0.34189	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.08	1.25	0.21368	5.08	1.25	0.21368	.	0.103406	0.64402	N	0.000005	T	0.23451	0.0567	M	0.62209	1.925	0.25357	N	0.988814	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.21917	0.037;0.026;0.026	T	0.17471	-1.0368	9	0.38643	T	0.18	-5.2001	8.5109	0.33217	0.7531:0.0:0.2469:0.0	.	309;309;309	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	309	ENSP00000358896:I309V	ENSP00000358896:I309V	I	+	1	0	0	AS3MT	104640330	104640330	0.412000	0.25392	0.952000	0.39060	0.984000	0.73092	-0.020000	0.12525	0.320000	0.23234	0.413000	0.27773	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_020682			103	101		382	369	1		1	1		0	0	72	0		1	9.824002e-01	0	5	0	21	0	103	382
CNNM2	54805	broad.mit.edu	37	10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F|CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	489	CBS 1. {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)			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)		GGGGAGCGCTCCAATATCGTG	0.517																																						ENST00000369878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1465-1467)tCc>tTc		cyclin and CBS domain divalent metal cation transport mediator 2							108.0	103.0	105.0					10																	104679703		2203	4300	6503	SO:0001583	missense	54805	0	0					g.chr10:104679703C>T	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.1466C>T	chr10.hg19:g.104679703C>T	ENSP00000358894:p.Ser489Phe	0					CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F	p.S489F	NM_017649.4	NP_060119.3	1	2	3	2.008551	Q9H8M5	CNNM2_HUMAN		1	1654	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	1	1	hg19	c.1466C>T	CCDS44474.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917192	0.52546	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	5.09	0.68999	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.104424	0.64402	D	0.000002	D	0.90256	0.6953	M	0.90759	3.145	0.80722	D	1	P;P;D	0.64830	0.933;0.932;0.994	P;P;D	0.70227	0.77;0.593;0.968	D	0.92372	0.5906	10	0.87932	D	0	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	489;489;489	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	489	ENSP00000392875:S489F;ENSP00000358891:S489F;ENSP00000358894:S489F	ENSP00000286899:S489F	S	+	2	0	0	CNNM2	104669693	104669693	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.696000	0.61774	2.343000	0.79666	0.561000	0.74099	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-3.231241	1	0.170000	NM_017649			71	71		369	363	1		1	1		0	0	113	0		1	9.999037e-01	0	21	0	51	0	71	369
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	533	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)			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)		CAAGTTGGACGCTATGCTGGA	0.463																																						ENST00000369878.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998938	0.990000	1.000000																										0				19						c.(1597-1599)Gct>Act		cyclin and CBS domain divalent metal cation transport mediator 2		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	115.0	121.0	119.0		1597,1597,1597	5.6	1.0	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	533/876,533/854,533/553	104679834	1,13005	2203	4300	6503	SO:0001583	missense	54805	4	121412	39				g.chr10:104679834G>A	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.1597G>A	chr10.hg19:g.104679834G>A	ENSP00000358894:p.Ala533Thr	0					CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T|CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T	p.A533T	NM_017649.4	NP_060119.3	1	2	3	2.008551	Q9H8M5	CNNM2_HUMAN		1	1785	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	1	1	hg19	c.1597G>A	CCDS44474.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599526	0.46318	2.27E-4	0.0	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.93426	-3.22;-0.99;-3.22	5.55	5.55	0.83447	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.103082	0.64402	D	0.000004	D	0.89420	0.6710	N	0.10916	0.065	0.58432	D	0.999999	B;B;D	0.56968	0.027;0.075;0.978	B;B;P	0.50049	0.024;0.011;0.629	D	0.87620	0.2509	10	0.16896	T	0.51	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	533;533;533	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	T	533	ENSP00000392875:A533T;ENSP00000358891:A533T;ENSP00000358894:A533T	ENSP00000286899:A533T	A	+	1	0	0	CNNM2	104669824	104669824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.750000	0.74888	2.604000	0.88044	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	1		2	2	2	0		0	0	152		152	149	1	2.060000	-19.999980	1	0.170000	NM_017649			83	81		718	702	1		1	1		0	0	152	0		1	9.911737e-01	0	11	0	53	0	83	718
CNNM2	54805	broad.mit.edu	37	10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	874					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)			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)		CAACGAAGGCGCCATCTAGGC	0.652																																						ENST00000369878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2620-2622)Gcc>Acc		cyclin and CBS domain divalent metal cation transport mediator 2							61.0	66.0	64.0					10																	104836929		2120	4225	6345	SO:0001583	missense	54805	1	121068	32				g.chr10:104836929G>A	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.2620G>A	chr10.hg19:g.104836929G>A	ENSP00000358894:p.Ala874Thr	0					CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	p.A874T	NM_017649.4	NP_060119.3	1	2	3	2.008551	Q9H8M5	CNNM2_HUMAN		8	2808	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	1	1	hg19	c.2620G>A	CCDS44474.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049847	0.75846	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74737	-0.87	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.119569	0.56097	D	0.000025	T	0.55561	0.1928	N	0.14661	0.345	0.39100	D	0.961268	P;P	0.42871	0.792;0.688	B;B	0.31245	0.126;0.059	T	0.66424	-0.5927	10	0.59425	D	0.04	.	15.2976	0.73922	0.0:0.1395:0.8605:0.0	.	852;874	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	T	875;853;874;852;573	ENSP00000358894:A874T	ENSP00000286899:A852T	A	+	1	0	0	CNNM2	104826919	104826919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	2.188000	0.42612	2.677000	0.91161	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	0		16	3	2	1		1	1	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_017649			57	56		296	288	1		1	0		1	0	78	0		9.999999e-01	7.900591e-01	0	1	0	24	0	57	296
INA	9118	broad.mit.edu	37	10	105036934	105036934	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105036934G>A	ENST00000369849.4	+	0	15					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha						cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTAGCTCGCGTTGAAGCCGC	0.716																																						ENST00000369849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13								internexin neuronal intermediate filament protein, alpha							12.0	14.0	13.0					10																	105036934		2071	4074	6145			9118	0	0					g.chr10:105036934G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.-35G>A	chr10.hg19:g.105036934G>A		0							NM_032727.3	NP_116116.1	1	2	3	2.008551	Q16352	AINX_HUMAN		0	15	+			B1AQK0|Q9BRC5	Translation_Start_Site	SNP	ENST00000369849.4	0	1	hg19		CCDS7545.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_032727			39	38		133	130	0		1	0		0	0	23	0		1	0	0	0	0	1	0	39	133
INA	9118	broad.mit.edu	37	10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	95	Coil 1A.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687																																						ENST00000369849.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998343	0.990000	1.000000																										0				13						c.(283-285)aaG>aaT		internexin neuronal intermediate filament protein, alpha							31.0	31.0	31.0					10																	105037253		2146	4177	6323	SO:0001583	missense	9118	0	0					g.chr10:105037253G>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.285G>T	chr10.hg19:g.105037253G>T	ENSP00000358865:p.Lys95Asn	0						p.K95N	NM_032727.3	NP_116116.1	1	2	3	2.008551	Q16352	AINX_HUMAN		1	334	+			B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	1	1	hg19	c.285G>T	CCDS7545.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949929	0.73787	.	.	ENSG00000148798	ENST00000369849	D	0.93547	-3.24	4.03	2.15	0.27550	4.03	2.15	0.27550	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98883	4.36	0.45704	D	0.998619	D	0.89917	1.0	D	0.79108	0.992	D	0.96865	0.9635	10	0.87932	D	0	.	9.5962	0.39576	0.1916:0.0:0.8084:0.0	.	95	Q16352	AINX_HUMAN	N	95	ENSP00000358865:K95N	ENSP00000358865:K95N	K	+	3	2	2	INA	105027243	105027243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.345000	0.65987	1.032000	0.39892	0.462000	0.41574	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.222976	1	0.170000	NM_032727			26	26		183	182	1		1	0		0	0	29	0		9.999999e-01	1.690065e-02	0	0	0	2	0	26	183
PCGF6	84108	broad.mit.edu	37	10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	338					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		CCATAATGAAGGACAAGCAGA	0.408																																						ENST00000369847.3	1.000000	0.210000	5.600000e-01	2.900000e-01	0.400000	0.454234	0.400000	0.380000																										0				8						c.(1012-1014)Ctt>Att		polycomb group ring finger 6							117.0	103.0	108.0					10																	105063703		2203	4300	6503	SO:0001583	missense	84108	0	0					g.chr10:105063703G>T	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.1012C>A	chr10.hg19:g.105063703G>T	ENSP00000358862:p.Leu338Ile	0					PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	p.L338I	NM_001011663.1	NP_001011663.1	1	2	3	2.008551	Q9BYE7	PCGF6_HUMAN		10	1079	-		Colorectal(252;0.0747)|Breast(234;0.128)	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	1	1	hg19	c.1012C>A	CCDS31275.1	0	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921880	0.73213	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.56275	0.48;0.47	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.066550	0.64402	N	0.000008	T	0.75177	0.3814	M	0.86651	2.83	0.31572	N	0.656259	D;D	0.67145	0.996;0.993	D;D	0.73708	0.978;0.981	T	0.80808	-0.1217	10	0.72032	D	0.01	.	14.5467	0.68035	0.0:0.0:1.0:0.0	.	263;338	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	338;263	ENSP00000358862:L338I;ENSP00000338845:L263I	ENSP00000338845:L263I	L	-	1	0	0	PCGF6	105053693	105053693	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.024000	0.64090	2.510000	0.84645	0.555000	0.69702	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	0	0	1		15	3	2	1		1	1	91		91	91	1	2.060000	-2.866460	1	0.170000	NM_032154			12	12		361	358	0		0	0		1	0	91	0		3.373311e-01	1.436695e-01	0	1	0	36	0	12	361
USMG5	84833	broad.mit.edu	37	10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|USMG5_ENST00000369815.1_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	8						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		CTGGTATTGCGCATCACTTTC	0.279																																						ENST00000369825.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				1						c.(22-24)gCg>gTg		up-regulated during skeletal muscle growth 5 homolog (mouse)							31.0	36.0	35.0					10																	105152192		2191	4290	6481	SO:0001583	missense	84833	8	121222	36				g.chr10:105152192G>A	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.23C>T	chr10.hg19:g.105152192G>A	ENSP00000358840:p.Ala8Val	0					USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V	p.A8V			1	2	3	2.008551	Q96IX5	USMG5_HUMAN		3	505	-		Colorectal(252;0.142)	B2R4N2|D3DR92	Missense_Mutation	SNP	ENST00000369825.1	1	1	hg19	c.23C>T	CCDS7548.1	1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459732	0.12342	.	.	ENSG00000173915	ENST00000369825;ENST00000369815;ENST00000309579;ENST00000337003;ENST00000369811	.	.	.	6.17	3.11	0.35812	6.17	3.11	0.35812	.	0.553031	0.17366	N	0.176845	T	0.37293	0.0998	.	.	.	0.18873	N	0.999986	B	0.15473	0.013	B	0.06405	0.002	T	0.21861	-1.0233	8	0.35671	T	0.21	.	14.0578	0.64781	0.0:0.3137:0.5913:0.095	.	8	Q96IX5	USMG5_HUMAN	V	8	.	ENSP00000311245:A8V	A	-	2	0	0	USMG5	105142182	105142182	0.065000	0.20965	0.996000	0.52242	0.171000	0.22731	1.517000	0.35867	0.823000	0.34589	-0.152000	0.13540	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.388119	1	0.170000	NM_032747			36	36		176	175	1		1	1		0	0	33	0		1	1	0	174	0	492	0	36	176
PDCD11	22984	broad.mit.edu	37	10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	181					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562																																						ENST00000369797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(541-543)gCt>gAt		programmed cell death 11							166.0	143.0	151.0					10																	105164918		2203	4300	6503	SO:0001583	missense	22984	0	0					g.chr10:105164918C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.542C>A	chr10.hg19:g.105164918C>A	ENSP00000358812:p.Ala181Asp	0						p.A181D	NM_014976.1	NP_055791.1	1	2	3	2.008551	Q14690	RRP5_HUMAN		5	636	+		Colorectal(252;0.0747)|Breast(234;0.128)	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	1	1	hg19	c.542C>A	CCDS31276.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001566	0.74818	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17854	2.25	4.87	4.87	0.63330	4.87	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.239585	0.43579	D	0.000550	T	0.15176	0.0366	L	0.39898	1.24	0.52501	D	0.999958	B	0.34264	0.446	B	0.29524	0.103	T	0.06356	-1.0831	10	0.23302	T	0.38	-7.0362	17.6017	0.88027	0.0:1.0:0.0:0.0	.	181	Q14690	RRP5_HUMAN	D	181	ENSP00000358812:A181D	ENSP00000358812:A181D	A	+	2	0	0	PDCD11	105154908	105154908	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	7.337000	0.79256	2.272000	0.75746	0.462000	0.41574	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				64	64		376	370	1		1	1		0	0	86	0		1	9.833556e-01	0	5	0	35	0	64	376
PDCD11	22984	broad.mit.edu	37	10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	340	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592																																						ENST00000369797.3	1.000000	0.830000	1	9.800000e-01	0.990000	0.984571	0.990000	1.000000																										0				64						c.(1018-1020)Gtt>Ttt		programmed cell death 11							121.0	101.0	108.0					10																	105172912		2203	4300	6503	SO:0001583	missense	22984	0	0					g.chr10:105172912G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1018G>T	chr10.hg19:g.105172912G>T	ENSP00000358812:p.Val340Phe	0						p.V340F	NM_014976.1	NP_055791.1	1	2	3	2.008551	Q14690	RRP5_HUMAN		9	1112	+		Colorectal(252;0.0747)|Breast(234;0.128)	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	1	1	hg19	c.1018G>T	CCDS31276.1	1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245882	0.39697	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17691	2.26	5.47	2.35	0.29111	5.47	2.35	0.29111	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);	1.035590	0.07544	N	0.914350	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.99998	B	0.32939	0.391	B	0.31390	0.129	T	0.25606	-1.0127	10	0.54805	T	0.06	0.4907	7.2346	0.26062	0.1581:0.0:0.6925:0.1493	.	340	Q14690	RRP5_HUMAN	F	340	ENSP00000358812:V340F	ENSP00000358812:V340F	V	+	1	0	0	PDCD11	105162902	105162902	0.988000	0.35896	0.845000	0.33349	0.961000	0.63080	2.276000	0.43408	1.313000	0.45069	0.467000	0.42956	GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				39	38		368	359	1		1	1		0	0	78	0		1	9.875634e-01	0	3	0	64	0	39	368
PDCD11	22984	broad.mit.edu	37	10	105177682	105177682	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105177682T>A	ENST00000369797.3	+	14	1998	c.1904T>A	c.(1903-1905)aTt>aAt	p.I635N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	635					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCATTAACATTGGGCAGGTA	0.478																																						ENST00000369797.3	1.000000	0.150000	4.400000e-01	2.100000e-01	0.300000	0.366698	0.300000	0.290000																										0				64						c.(1903-1905)aTt>aAt		programmed cell death 11							146.0	134.0	138.0					10																	105177682		2203	4300	6503	SO:0001583	missense	22984	0	0					g.chr10:105177682T>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1904T>A	chr10.hg19:g.105177682T>A	ENSP00000358812:p.Ile635Asn	0						p.I635N	NM_014976.1	NP_055791.1	1	2	3	2.008551	Q14690	RRP5_HUMAN		14	1998	+		Colorectal(252;0.0747)|Breast(234;0.128)	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	0	1	hg19	c.1904T>A	CCDS31276.1	0	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615988	0.28801	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10477	2.87	5.28	-1.54	0.08584	5.28	-1.54	0.08584	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	1.092910	0.06925	N	0.810013	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41858	-0.9485	10	0.56958	D	0.05	-0.0027	6.3525	0.21383	0.1121:0.3566:0.0:0.5312	.	635	Q14690	RRP5_HUMAN	N	635	ENSP00000358812:I635N	ENSP00000358812:I635N	I	+	2	0	0	PDCD11	105167672	105167672	0.054000	0.20591	0.029000	0.17559	0.132000	0.20833	0.565000	0.23578	-0.229000	0.09854	-0.520000	0.04383	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	0	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-9.746102	1	0.170000				10	10		403	394	0		1	1		0	0	109	0		9.966020e-01	3.949729e-01	0	2	0	50	0	10	403
PDCD11	22984	broad.mit.edu	37	10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1334	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552																																						ENST00000369797.3	1.000000	0.730000	1	8.700000e-01	0.990000	0.953376	0.990000	1.000000																										0				64						c.(4000-4002)aTc>aCc		programmed cell death 11							111.0	114.0	113.0					10																	105198541		2203	4300	6503	SO:0001583	missense	22984	0	0					g.chr10:105198541T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4001T>C	chr10.hg19:g.105198541T>C	ENSP00000358812:p.Ile1334Thr	0						p.I1334T	NM_014976.1	NP_055791.1	1	2	3	2.008551	Q14690	RRP5_HUMAN		27	4095	+		Colorectal(252;0.0747)|Breast(234;0.128)	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	1	1	hg19	c.4001T>C	CCDS31276.1	1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025769	0.35701	.	.	ENSG00000148843	ENST00000369797	T	0.21031	2.03	5.62	5.62	0.85841	5.62	5.62	0.85841	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);	0.295434	0.37053	N	0.002264	T	0.23094	0.0558	L	0.53729	1.69	0.09310	N	1	B	0.32717	0.381	B	0.30029	0.11	T	0.14090	-1.0485	10	0.44086	T	0.13	-3.134	15.8248	0.78690	0.0:0.0:0.0:1.0	.	1334	Q14690	RRP5_HUMAN	T	1334	ENSP00000358812:I1334T	ENSP00000358812:I1334T	I	+	2	0	0	PDCD11	105188531	105188531	0.846000	0.29590	0.017000	0.16124	0.003000	0.03518	6.593000	0.74100	2.140000	0.66376	0.459000	0.35465	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-10.911390	1	0.170000				35	35		373	370	1		1	1		0	0	93	0		1	9.749230e-01	0	14	0	51	0	35	373
CALHM2	51063	broad.mit.edu	37	10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617																																						ENST00000260743.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(919-921)Gca>Aca		calcium homeostasis modulator 2							53.0	49.0	50.0					10																	105206962		2203	4300	6503	SO:0001583	missense	51063	0	0					g.chr10:105206962C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.919G>A	chr10.hg19:g.105206962C>T	ENSP00000260743:p.Ala307Thr	0					CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T|RP11-225H22.7_ENST00000608063.1_RNA	p.A307T	NM_015916.4	NP_057000.2	1	2	3	2.008551	Q9HA72	CAHM2_HUMAN		4	1442	-			D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	1	1	hg19	c.919G>A	CCDS7549.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723844	0.48728	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17054	2.3;2.3	5.52	-1.14	0.09741	5.52	-1.14	0.09741	.	1.268130	0.05081	N	0.483424	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.14656	T	0.56	0.0966	7.019	0.24904	0.0:0.3498:0.1218:0.5285	.	307	Q9HA72	CAHM2_HUMAN	T	307	ENSP00000358803:A307T;ENSP00000260743:A307T	ENSP00000260743:A307T	A	-	1	0	0	CALHM2	105196952	105196952	0.000000	0.05858	0.018000	0.16275	0.710000	0.40934	-0.403000	0.07214	-0.220000	0.09988	0.561000	0.74099	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_015916			79	77		284	280	1		1	1		0	0	78	0		1	1	0	5	0	106	0	79	284
CALHM2	51063	broad.mit.edu	37	10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	249					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCAAAGAAGCGGCGCACATT	0.612																																						ENST00000260743.5	1.000000	0.330000	7.300000e-01	4.300000e-01	0.550000	0.589023	0.550000	0.530000																										0				11						c.(745-747)cGc>cAc		calcium homeostasis modulator 2							84.0	75.0	78.0					10																	105207135		2203	4300	6503	SO:0001583	missense	51063	3	121412	34				g.chr10:105207135C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.746G>A	chr10.hg19:g.105207135C>T	ENSP00000260743:p.Arg249His	0					CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H|RP11-225H22.7_ENST00000608063.1_RNA	p.R249H	NM_015916.4	NP_057000.2	1	2	3	2.008551	Q9HA72	CAHM2_HUMAN		4	1269	-			D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	1	1	hg19	c.746G>A	CCDS7549.1	0	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341551	0.61073	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17213	2.29;2.29	5.37	4.45	0.53987	5.37	4.45	0.53987	.	0.340884	0.32002	N	0.006726	T	0.10723	0.0262	N	0.13098	0.295	0.80722	D	1	P	0.37441	0.595	B	0.40199	0.322	T	0.17077	-1.0381	10	0.41790	T	0.15	-18.0115	6.8321	0.23915	0.0:0.6943:0.0:0.3057	.	249	Q9HA72	CAHM2_HUMAN	H	249	ENSP00000358803:R249H;ENSP00000260743:R249H	ENSP00000260743:R249H	R	-	2	0	0	CALHM2	105197125	105197125	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.495000	0.35627	1.251000	0.43983	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.091958	1	0.170000	NM_015916			18	18		383	377	0		1	0		0	0	72	0		9.999802e-01	8.298538e-01	0	0	0	71	0	18	383
CALHM1	255022	broad.mit.edu	37	10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	101					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657																																						ENST00000329905.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(301-303)tgC>tgA		calcium homeostasis modulator 1							33.0	34.0	33.0					10																	105218206		2203	4298	6501	SO:0001587	stop_gained	255022	0	0					g.chr10:105218206G>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.303C>A	chr10.hg19:g.105218206G>T	ENSP00000329926:p.Cys101*	0					RP11-225H22.4_ENST00000411906.1_RNA	p.C101*	NM_001001412.3	NP_001001412.3	1	2	3	2.008551	Q8IU99	CAHM1_HUMAN		1	439	-			Q5W091	Nonsense_Mutation	SNP	ENST00000329905.5	0	1	hg19	c.303C>A	CCDS7550.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.642628	0.96704	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.38	1.36	0.22044	5.38	1.36	0.22044	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3187	9.1978	0.37240	0.4035:0.0:0.5965:0.0	.	.	.	.	X	101	.	ENSP00000329926:C101X	C	-	3	2	2	CALHM1	105208196	105208196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.880000	0.28159	0.407000	0.25591	0.491000	0.48974	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_001001412			52	52		224	222	1		1			0	0	39	0		1	0	0	0	0	0	0	52	224
CALHM1	255022	broad.mit.edu	37	10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	30					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612																																						ENST00000329905.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(88-90)Gcc>Acc		calcium homeostasis modulator 1		C	THR/ALA	0,4406		0,0,2203	46.0	49.0	48.0		88	5.6	1.0	10	dbSNP_134	48	9,8591	7.1+/-27.0	0,9,4291	yes	missense	CALHM1	NM_001001412.3	58	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	probably-damaging	30/347	105218421	9,12997	2203	4300	6503	SO:0001583	missense	255022	41	121412	46				g.chr10:105218421C>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.88G>A	chr10.hg19:g.105218421C>T	ENSP00000329926:p.Ala30Thr	0					RP11-225H22.4_ENST00000411906.1_RNA	p.A30T	NM_001001412.3	NP_001001412.3	1	2	3	2.008551	Q8IU99	CAHM1_HUMAN		1	224	-			Q5W091	Missense_Mutation	SNP	ENST00000329905.5	1	1	hg19	c.88G>A	CCDS7550.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.572932	0.96553	0.0	0.001047	ENSG00000185933	ENST00000329905	T	0.20332	2.08	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.66056	D	0.02	-31.676	18.5069	0.90901	0.0:1.0:0.0:0.0	.	30	Q8IU99	CAHM1_HUMAN	T	30	ENSP00000329926:A30T	ENSP00000329926:A30T	A	-	1	0	0	CALHM1	105208411	105208411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	2.619000	0.88677	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.334722	1	0.170000	NM_001001412			57	57		240	239	1		1			0	0	48	0		1	0	0	0	0	0	0	57	240
SH3PXD2A	9644	broad.mit.edu	37	10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	792					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612																																						ENST00000369774.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2374-2376)Ctc>Atc		SH3 and PX domains 2A							182.0	183.0	183.0					10																	105362601		2203	4300	6503	SO:0001583	missense	9644	0	0					g.chr10:105362601G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2374C>A	chr10.hg19:g.105362601G>T	ENSP00000358789:p.Leu792Ile	0					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I	p.L792I			1	2	3	2.008551	Q5TCZ1	SPD2A_HUMAN		15	2650	-		Colorectal(252;0.0815)|Breast(234;0.131)	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	1	1	hg19	c.2374C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862342|1.862342	0.32884|0.32884	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59224	.|0.39;0.33;0.49;0.28	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.056930	.|0.64402	.|D	.|0.000001	T|T	0.66761|0.66761	0.2822|0.2822	L|L	0.32530|0.32530	0.975|0.975	0.37370|0.37370	D|D	0.911607|0.911607	.|D;D;D;D	.|0.71674	.|0.997;0.997;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.978;0.978;0.984;0.99	T|T	0.66842|0.66842	-0.5821|-0.5821	5|10	.|0.27785	.|T	.|0.31	-25.5521|-25.5521	18.5141|18.5141	0.90930|0.90930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|792;641;637;764	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	D|I	718|792;764;599;707;659;627	.|ENSP00000358789:L792I;ENSP00000348215:L764I;ENSP00000443663:L659I;ENSP00000441514:L627I	.|ENSP00000318135:L599I	A|L	-|-	2|1	0|0	0|0	SH3PXD2A|SH3PXD2A	105352591|105352591	105352591|105352591	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.356000|0.356000	0.29392|0.29392	2.362000|2.362000	0.44169|0.44169	2.373000|2.373000	0.80994|0.80994	0.555000|0.555000	0.69702|0.69702	GCT|CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	0		2	2	2	0		0	0	242		242	239	1	2.060000	-20.000000	1	0.170000	NM_014631			261	256		1143	1127	1		1	1		0	0	242	0		1	1	0	10	0	129	0	261	1143
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261.0	251.0	254.0					10																	105362640		2203	4300	6503	SO:0001583	missense	9644	0	0					g.chr10:105362640G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2335C>T	chr10.hg19:g.105362640G>A	ENSP00000358789:p.Arg779Trp	0					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W	p.R779W			1	2	3	2.008551	Q5TCZ1	SPD2A_HUMAN		15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	1	1	hg19	c.2335C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	0		2	2	2	0		0	0	304		304	290	1	2.060000	-20.000000	1	0.170000	NM_014631			316	309		1417	1387	1		1	1		0	0	304	0		1	1	0	11	0	120	0	316	1417
SH3PXD2A	9644	broad.mit.edu	37	10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	499	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622																																						ENST00000369774.4	1.000000	0.830000	1	9.900000e-01	0.990000	0.986269	0.990000	1.000000																										0				38						c.(1495-1497)Gca>Aca		SH3 and PX domains 2A							55.0	52.0	53.0					10																	105363480		2203	4295	6498	SO:0001583	missense	9644	1	121376	31				g.chr10:105363480C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1495G>A	chr10.hg19:g.105363480C>T	ENSP00000358789:p.Ala499Thr	0					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T	p.A499T			1	2	3	2.008551	Q5TCZ1	SPD2A_HUMAN		15	1771	-		Colorectal(252;0.0815)|Breast(234;0.131)	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	1	1	hg19	c.1495G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.493212|3.493212	0.64186|0.64186	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.57|5.57	5.57|5.57	0.84162|0.84162	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.205803|.	0.51477|.	D|.	0.000089|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.67397|0.67397	2.05|2.05	0.39466|0.39466	D|D	0.967659|0.967659	P;D;D;D|.	0.65815|.	0.941;0.995;0.995;0.994|.	P;D;D;P|.	0.65573|.	0.577;0.936;0.913;0.861|.	T|T	0.72374|0.72374	-0.4313|-0.4313	10|5	0.34782|.	T|.	0.22|.	-19.4094|-19.4094	14.3946|14.3946	0.67003|0.67003	0.1477:0.8523:0.0:0.0|0.1477:0.8523:0.0:0.0	.|.	499;348;344;471|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	499;471;306;414;366;334|425	ENSP00000358789:A499T;ENSP00000348215:A471T;ENSP00000443663:A366T;ENSP00000441514:A334T|.	ENSP00000318135:A306T|.	A|R	-|-	1|2	0|0	0|0	SH3PXD2A|SH3PXD2A	105353470|105353470	105353470|105353470	0.994000|0.994000	0.37717|0.37717	0.175000|0.175000	0.22980|0.22980	0.919000|0.919000	0.55068|0.55068	3.182000|3.182000	0.50910|0.50910	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCA|CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-2.690405	1	0.170000	NM_014631			33	33		301	299	1		1	1		0	0	70	0		1	9.557771e-01	0	3	0	46	0	33	301
SH3PXD2A	9644	broad.mit.edu	37	10	105372695	105372695	+	Silent	SNP	G	G	A	rs578149053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	391					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.001					ENST00000369774.4	1.000000	0.280000	7.100000e-01	3.800000e-01	0.510000	0.556808	0.510000	0.480000																										0				38						c.(1171-1173)gcC>gcT		SH3 and PX domains 2A							53.0	48.0	49.0					10																	105372695		2203	4300	6503	SO:0001819	synonymous_variant	9644	6	121410	37				g.chr10:105372695G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1173C>T	chr10.hg19:g.105372695G>A		0					RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A	p.A391A			1	2	3	2.008551	Q5TCZ1	SPD2A_HUMAN		12	1449	-		Colorectal(252;0.0815)|Breast(234;0.131)	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	1	1	hg19	c.1173C>T		0	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116878	0.01799	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.67	-4.99	0.03010	5.67	-4.99	0.03010	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	-23.192	1.2954	0.02068	0.3276:0.1575:0.3404:0.1745	.	.	.	.	C	318	.	.	R	-	1	0	0	SH3PXD2A	105362685	105362685	0.015000	0.18098	0.389000	0.26208	0.029000	0.11900	-0.088000	0.11198	-0.711000	0.04995	-2.189000	0.00312	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-14.017090	1	0.170000	NM_014631			13	14		301	298	0		1	1		0	0	43	0		9.995422e-01	8.393748e-01	0	3	0	76	0	13	301
OBFC1	79991	broad.mit.edu	37	10	105657393	105657393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.Q222Q	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	222	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532																																						ENST00000224950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(664-666)caG>caA		oligonucleotide/oligosaccharide-binding fold containing 1							121.0	106.0	111.0					10																	105657393		2203	4300	6503	SO:0001819	synonymous_variant	79991	0	0					g.chr10:105657393C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.666G>A	chr10.hg19:g.105657393C>T		0					OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	p.Q222Q	NM_024928.4	NP_079204.2	1	2	3	2.008551	Q9H668	STN1_HUMAN		7	833	-		Colorectal(252;0.178)	D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	1	1	hg19	c.666G>A	CCDS7552.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_024928			77	76		326	320	0		1	1		0	0	72	0		1	1	0	60	0	173	0	77	326
OBFC1	79991	broad.mit.edu	37	10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	74					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393																																						ENST00000224950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(220-222)aGt>aTt		oligonucleotide/oligosaccharide-binding fold containing 1		C	ILE/SER	0,4404		0,0,2202	129.0	114.0	119.0		221	2.4	1.0	10	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	OBFC1	NM_024928.4	142	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	74/369	105670293	1,13003	2202	4300	6502	SO:0001583	missense	79991	0	0					g.chr10:105670293C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.221G>T	chr10.hg19:g.105670293C>A	ENSP00000224950:p.Ser74Ile	0					OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I|OBFC1_ENST00000466828.1_5'UTR	p.S74I	NM_024928.4	NP_079204.2	1	2	3	2.008551	Q9H668	STN1_HUMAN		3	388	-		Colorectal(252;0.178)	D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	1	1	hg19	c.221G>T	CCDS7552.1	1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022059	0.35701	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.22336	1.96;1.96	5.47	2.36	0.29203	5.47	2.36	0.29203	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.159693	0.64402	N	0.000001	T	0.15955	0.0384	L	0.39245	1.2	0.41782	D	0.989827	B	0.18461	0.028	B	0.15052	0.012	T	0.06661	-1.0814	10	0.32370	T	0.25	-1.2429	9.8972	0.41327	0.4001:0.4793:0.1205:0.0	.	74	Q9H668	STN1_HUMAN	I	74	ENSP00000224950:S74I;ENSP00000358779:S74I	ENSP00000224950:S74I	S	-	2	0	0	OBFC1	105660283	105660283	0.976000	0.34144	0.998000	0.56505	0.779000	0.44077	0.099000	0.15210	0.750000	0.32877	0.557000	0.71058	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_024928			42	42		191	189	1		1	1		0	0	45	0		1	1	0	72	0	149	0	42	191
SLK	9748	broad.mit.edu	37	10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	346	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)			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)		CCTTAGTATCGCCAGCTCTGA	0.353																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1036-1038)Gcc>Acc		STE20-like kinase							71.0	76.0	74.0					10																	105761972		2203	4300	6503	SO:0001583	missense	9748	3	121412	36				g.chr10:105761972G>A		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.1036G>A	chr10.hg19:g.105761972G>A	ENSP00000358770:p.Ala346Thr	0					SLK_ENST00000335753.4_Missense_Mutation_p.A346T	p.A346T	NM_014720.2	NP_055535.2	1	2	3	2.008551	Q9H2G2	SLK_HUMAN		9	1581	+		Colorectal(252;0.178)	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	1	1	hg19	c.1036G>A	CCDS7553.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759677	0.69763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.060003	0.64402	D	0.000003	T	0.49558	0.1564	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.955;0.99	T	0.33394	-0.9870	10	0.42905	T	0.14	.	19.5347	0.95244	0.0:0.0:1.0:0.0	.	346;346	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	346	ENSP00000336824:A346T;ENSP00000358770:A346T	ENSP00000336824:A346T	A	+	1	0	0	SLK	105751962	105751962	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.320000	0.96346	2.622000	0.88805	0.455000	0.32223	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.334979	1	0.170000	NM_014720			92	90		452	446	1		1	1		0	0	112	0		1	1	0	66	0	135	0	92	452
SLK	9748	broad.mit.edu	37	10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1082					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)			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)		GCCAAGACTCGAATGGCCATG	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(3244-3246)cGa>cAa		STE20-like kinase							116.0	115.0	116.0					10																	105779604		2203	4300	6503	SO:0001583	missense	9748	0	0					g.chr10:105779604G>A		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.3245G>A	chr10.hg19:g.105779604G>A	ENSP00000358770:p.Arg1082Gln	0					SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	p.R1082Q	NM_014720.2	NP_055535.2	1	2	3	2.008551	Q9H2G2	SLK_HUMAN		16	3790	+		Colorectal(252;0.178)	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	1	1	hg19	c.3245G>A	CCDS7553.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.906712	0.97093	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	19.8949	0.96954	0.0:0.0:1.0:0.0	.	1051;1082	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	1051;1082	ENSP00000336824:R1051Q;ENSP00000358770:R1082Q	ENSP00000336824:R1051Q	R	+	2	0	0	SLK	105769594	105769594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.712000	0.92718	0.484000	0.47621	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	0	0	1		19	14	2	1		1	1	119		119	118	1	2.060000	-3.426419	1	0.170000	NM_014720			127	123		550	539	1		1	1		1	0	119	0		1	1	0	161	0	263	0	127	550
COL17A1	1308	broad.mit.edu	37	10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	857	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522																																						ENST00000353479.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				62						c.(2569-2571)Ggt>Agt		collagen, type XVII, alpha 1							23.0	26.0	25.0					10																	105801279		2201	4299	6500	SO:0001583	missense	1308	0	0					g.chr10:105801279C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2569G>A	chr10.hg19:g.105801279C>T	ENSP00000340937:p.Gly857Ser	0					COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	p.G857S	NM_000494.3	NP_000485.3	1	2	3	2.008551	Q9UMD9	COHA1_HUMAN		37	2859	-		Colorectal(252;0.103)|Breast(234;0.122)	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	1	1	hg19	c.2569G>A	CCDS7554.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188459	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98105	-4.72;-4.72	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.47455	D	0.000224	D	0.98836	0.9607	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99013	1.0815	10	0.87932	D	0	-8.0688	13.4278	0.61037	0.0:1.0:0.0:0.0	.	857	Q9UMD9	COHA1_HUMAN	S	857	ENSP00000340937:G857S;ENSP00000358748:G857S	ENSP00000340937:G857S	G	-	1	0	0	COL17A1	105791269	105791269	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.833000	0.62766	2.638000	0.89438	0.491000	0.48974	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.176565	1	0.170000	NM_130778, NM_000494			27	25		147	145	1		1	1		0	0	32	0		1	9.997887e-01	0	76	0	0	0	27	147
COL17A1	1308	broad.mit.edu	37	10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	584	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532																																						ENST00000353479.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998307	0.990000	1.000000																										0				62						c.(1750-1752)Cga>Tga		collagen, type XVII, alpha 1							51.0	48.0	49.0					10																	105813871		2203	4300	6503	SO:0001587	stop_gained	1308	0	0					g.chr10:105813871G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1750C>T	chr10.hg19:g.105813871G>A	ENSP00000340937:p.Arg584*	0					COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*|COL17A1_ENST00000480127.1_5'Flank	p.R584*	NM_000494.3	NP_000485.3	1	2	3	2.008551	Q9UMD9	COHA1_HUMAN		21	2040	-		Colorectal(252;0.103)|Breast(234;0.122)	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	0	1	hg19	c.1750C>T	CCDS7554.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.775084	0.96922	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.98	3.03	0.35002	4.98	3.03	0.35002	.	0.194758	0.25230	N	0.032179	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.486	11.3663	0.49673	0.0:0.0:0.6726:0.3274	.	.	.	.	X	584;584;568	.	ENSP00000340937:R584X	R	-	1	2	2	COL17A1	105803861	105803861	0.756000	0.28383	0.090000	0.20809	0.101000	0.19017	1.045000	0.30341	1.087000	0.41251	-0.475000	0.04921	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.887580	1	0.170000	NM_130778, NM_000494			11	11		51	46	1		1	1		0	0	16	0		9.981439e-01	9.999997e-01	0	2	0	184	0	11	51
COL17A1	1308	broad.mit.edu	37	10	105836072	105836072	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507																																						ENST00000353479.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(316-318)cgC>cgA		collagen, type XVII, alpha 1							202.0	201.0	201.0					10																	105836072		2203	4300	6503	SO:0001819	synonymous_variant	1308	0	0					g.chr10:105836072G>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.318C>A	chr10.hg19:g.105836072G>T		0					COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	p.R106R	NM_000494.3	NP_000485.3	1	2	3	2.008551	Q9UMD9	COHA1_HUMAN		5	608	-		Colorectal(252;0.103)|Breast(234;0.122)	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	1	1	hg19	c.318C>A	CCDS7554.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-20.000000	1	0.170000	NM_130778, NM_000494			127	124		481	462	1		1	1		0	0	76	0		1	1	0	6	0	164	0	127	481
GSTO2	119391	broad.mit.edu	37	10	106037862	106037862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000338595.2	+	4	674	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_ENST00000369707.2_Silent_p.E90E|GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000450629.2_Silent_p.E118E|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000477078.2_3'UTR	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	118	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)			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)	TGTTATTGGAGCTATTTTGTA	0.373																																						ENST00000338595.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				11						c.(352-354)gaG>gaA		glutathione S-transferase omega 2	Glutathione(DB00143)						86.0	77.0	80.0					10																	106037862		2203	4300	6503	SO:0001819	synonymous_variant	119391	0	0					g.chr10:106037862G>A	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.354G>A	chr10.hg19:g.106037862G>A		0					GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000369707.2_Silent_p.E90E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000450629.2_Silent_p.E118E	p.E118E	NM_183239.1	NP_899062.1	1	2	3	2.008551	Q9H4Y5	GSTO2_HUMAN		4	674	+		Colorectal(252;0.178)	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Silent	SNP	ENST00000338595.2	1	1	hg19	c.354G>A	CCDS7556.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-14.422950	1	0.170000	NM_183239			24	23		129	125	1		1	1		0	0	27	0		9.999998e-01	9.972698e-01	0	23	0	31	0	24	129
GSTO2	119391	broad.mit.edu	37	10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000338595.2	+	7	915	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	GSTO2_ENST00000369707.2_Missense_Mutation_p.A171T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	199	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)			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)	CCACACGCCAGCCCTGCGGCT	0.512																																						ENST00000338595.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(595-597)Gcc>Acc		glutathione S-transferase omega 2	Glutathione(DB00143)						82.0	80.0	81.0					10																	106058905		2203	4300	6503	SO:0001583	missense	119391	0	0					g.chr10:106058905G>A	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.595G>A	chr10.hg19:g.106058905G>A	ENSP00000345023:p.Ala199Thr	0					GSTO2_ENST00000369707.2_Missense_Mutation_p.A171T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T	p.A199T	NM_183239.1	NP_899062.1	1	2	3	2.008551	Q9H4Y5	GSTO2_HUMAN		7	915	+		Colorectal(252;0.178)	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	1	1	hg19	c.595G>A	CCDS7556.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578633|1.578633	0.28180|0.28180	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	D;T;D|T	0.93712|0.13657	-3.27;2.54;-3.27|2.57	6.04|6.04	-0.589|-0.589	0.11683|0.11683	6.04|6.04	-0.589|-0.589	0.11683|0.11683	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.711447|.	0.15275|.	N|.	0.271039|.	T|T	0.06735|0.06735	0.0172|0.0172	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.17465	0.0;0.0|0.022	B;B|B	0.04013|0.11329	0.001;0.001|0.006	T|T	0.43940|0.43940	-0.9360|-0.9360	10|9	0.32370|0.09843	T|T	0.25|0.71	-0.508|-0.508	3.077|3.077	0.06249|0.06249	0.416:0.0:0.2755:0.3085|0.416:0.0:0.2755:0.3085	.|.	165;199|101	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	T|N	199;199;165;171|101	ENSP00000345023:A199T;ENSP00000390986:A165T;ENSP00000358721:A171T|ENSP00000407381:S101N	ENSP00000345023:A199T|ENSP00000407381:S101N	A|S	+|+	1|2	0|0	0|0	GSTO2|GSTO2	106048895|106048895	106048895|106048895	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.866000|0.866000	0.49608|0.49608	0.981000|0.981000	0.29526|0.29526	-0.050000|-0.050000	0.13356|0.13356	0.563000|0.563000	0.77884|0.77884	GCC|AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.337892	1	0.170000	NM_183239			70	69		351	347	1		1	1		0	0	69	0		1	9.999999e-01	0	39	0	81	0	70	351
ITPRIP	85450	broad.mit.edu	37	10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000337478.1	-	2	1203	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	344						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592																																						ENST00000337478.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1030-1032)atG>atA		inositol 1,4,5-trisphosphate receptor interacting protein							85.0	71.0	76.0					10																	106074778		2203	4300	6503	SO:0001583	missense	85450	0	0					g.chr10:106074778C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1032G>A	chr10.hg19:g.106074778C>T	ENSP00000337178:p.Met344Ile	0					ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I|RP11-127L20.5_ENST00000472915.2_RNA	p.M344I	NM_001272013.1	NP_001258942.1	1	2	3	2.008551	Q8IWB1	IPRI_HUMAN		2	1203	-			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	1	1	hg19	c.1032G>A	CCDS7557.1	1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908862	0.02434	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.20738	2.05;2.05;2.05	4.99	3.01	0.34805	4.99	3.01	0.34805	.	0.148200	0.64402	D	0.000013	T	0.09468	0.0233	N	0.17631	0.505	0.27709	N	0.945533	B	0.06786	0.001	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-39.1216	7.4632	0.27306	0.2498:0.4072:0.343:0.0	.	344	Q8IWB1	IPRI_HUMAN	I	344	ENSP00000337178:M344I;ENSP00000278071:M344I;ENSP00000350915:M344I	ENSP00000278071:M344I	M	-	3	0	0	ITPRIP	106064768	106064768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.183000	0.32041	2.470000	0.83445	0.462000	0.41574	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_033397			85	84		404	393	1		1	1		0	0	94	0		1	9.993974e-01	0	3	0	51	0	85	404
ITPRIP	85450	broad.mit.edu	37	10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000337478.1	-	2	703	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	178						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612																																						ENST00000337478.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(532-534)Ctc>Atc		inositol 1,4,5-trisphosphate receptor interacting protein							68.0	73.0	71.0					10																	106075278		2203	4300	6503	SO:0001583	missense	85450	0	0					g.chr10:106075278G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.532C>A	chr10.hg19:g.106075278G>T	ENSP00000337178:p.Leu178Ile	0					ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I|RP11-127L20.5_ENST00000472915.2_RNA	p.L178I	NM_001272013.1	NP_001258942.1	1	2	3	2.008551	Q8IWB1	IPRI_HUMAN		2	703	-			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	1	1	hg19	c.532C>A	CCDS7557.1	1	.	.	.	.	.	.	.	.	.	.	G	7.718	0.696517	0.15106	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23348	1.91;1.91;1.91	5.68	2.58	0.30949	5.68	2.58	0.30949	.	0.274312	0.34200	N	0.004168	T	0.13329	0.0323	N	0.17082	0.46	0.23243	N	0.998052	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.29301	T	0.29	-20.4168	7.24	0.26092	0.0:0.3762:0.3913:0.2325	.	178	Q8IWB1	IPRI_HUMAN	I	178	ENSP00000337178:L178I;ENSP00000278071:L178I;ENSP00000350915:L178I	ENSP00000278071:L178I	L	-	1	0	0	ITPRIP	106065268	106065268	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.223000	0.42936	0.669000	0.31146	0.563000	0.77884	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	0		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_033397			81	79		418	412	1		1	1		0	0	93	0		1	9.958553e-01	0	5	0	40	0	81	418
ITPRIP	85450	broad.mit.edu	37	10	106075312	106075312	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000337478.1	-	2	669	c.498C>A	c.(496-498)ggC>ggA	p.G166G	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	166						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622																																						ENST00000337478.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(496-498)ggC>ggA		inositol 1,4,5-trisphosphate receptor interacting protein							52.0	56.0	55.0					10																	106075312		2202	4300	6502	SO:0001819	synonymous_variant	85450	0	0					g.chr10:106075312G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.498C>A	chr10.hg19:g.106075312G>T		0					ITPRIP_ENST00000278071.2_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G|RP11-127L20.5_ENST00000472915.2_RNA	p.G166G	NM_001272013.1	NP_001258942.1	1	2	3	2.008551	Q8IWB1	IPRI_HUMAN		2	669	-			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	1	1	hg19	c.498C>A	CCDS7557.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	0		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_033397			76	73		390	384	1		1	1		0	0	89	0		1	9.990129e-01	0	3	0	52	0	76	390
ITPRIP	85450	broad.mit.edu	37	10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000337478.1	-	2	329	c.158T>C	c.(157-159)tTg>tCg	p.L53S	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	53						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672																																						ENST00000337478.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(157-159)tTg>tCg		inositol 1,4,5-trisphosphate receptor interacting protein							72.0	71.0	71.0					10																	106075652		2203	4300	6503	SO:0001583	missense	85450	0	0					g.chr10:106075652A>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.158T>C	chr10.hg19:g.106075652A>G	ENSP00000337178:p.Leu53Ser	0					ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S|RP11-127L20.5_ENST00000472915.2_RNA	p.L53S	NM_001272013.1	NP_001258942.1	1	2	3	2.008551	Q8IWB1	IPRI_HUMAN		2	329	-			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	1	1	hg19	c.158T>C	CCDS7557.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928157	0.52759	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.321554	0.30051	N	0.010532	T	0.17619	0.0423	L	0.27053	0.805	0.26231	N	0.97902	D	0.63880	0.993	P	0.56216	0.794	T	0.03555	-1.1025	10	0.72032	D	0.01	-14.6649	15.9181	0.79539	1.0:0.0:0.0:0.0	.	53	Q8IWB1	IPRI_HUMAN	S	53	ENSP00000337178:L53S;ENSP00000278071:L53S;ENSP00000350915:L53S;ENSP00000414141:L53S	ENSP00000278071:L53S	L	-	2	0	0	ITPRIP	106065642	106065642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.161000	0.67846	0.460000	0.39030	TTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1		2	2	2	0		0	0	99		99	95	1	2.060000	-20.000000	1	0.170000	NM_033397			129	125		567	546	1		1	1		0	0	99	0		1	9.817144e-01	0	5	0	25	0	129	567
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				131						c.(1948-1950)tCg>tTg		sortilin-related VPS10 domain containing receptor 3							239.0	206.0	217.0					10																	106937871		2203	4300	6503	SO:0001583	missense	22986	2	121408	29				g.chr10:106937871C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1949C>T	chr10.hg19:g.106937871C>T	ENSP00000358715:p.Ser650Leu	0					SORCS3_ENST00000369699.4_Intron	p.S650L	NM_014978.1	NP_055793.1	1	2	3	2.008551	Q9UPU3	SORC3_HUMAN		14	2176	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	1	1	hg19	c.1949C>T	CCDS7558.1	1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756460	0.31137	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.53640	0.61;0.61	5.48	4.54	0.55810	5.48	4.54	0.55810	VPS10 (1);	0.358549	0.26840	N	0.022238	T	0.42539	0.1207	M	0.62088	1.915	0.23855	N	0.996657	B	0.12630	0.006	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	.	9.5487	0.39297	0.0:0.8844:0.0:0.1156	.	650	Q9UPU3	SORC3_HUMAN	L	650;95	ENSP00000358715:S650L;ENSP00000376876:S95L	.	S	+	2	0	0	SORCS3	106927861	106927861	0.000000	0.05858	0.497000	0.27552	0.768000	0.43524	1.064000	0.30579	1.170000	0.42753	0.460000	0.39030	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.281432	1	0.170000	NM_014978			49	49		208	204	1		1			0	0	44	0		1	0	0	0	0	0	0	49	208
SORCS3	22986	broad.mit.edu	37	10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	696					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCGGCATTGCACCAAGGAG	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				131						c.(2086-2088)tGc>tAc		sortilin-related VPS10 domain containing receptor 3							130.0	118.0	122.0					10																	106959834		2203	4300	6503	SO:0001583	missense	22986	0	0					g.chr10:106959834G>A	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.2087G>A	chr10.hg19:g.106959834G>A	ENSP00000358715:p.Cys696Tyr	0					SORCS3_ENST00000369699.4_5'UTR	p.C696Y	NM_014978.1	NP_055793.1	1	2	3	2.008551	Q9UPU3	SORC3_HUMAN		15	2314	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	1	1	hg19	c.2087G>A	CCDS7558.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889213	0.91889	.	.	ENSG00000156395	ENST00000369701	T	0.44482	0.92	6.07	6.07	0.98685	6.07	6.07	0.98685	VPS10 (1);	0.096778	0.64402	D	0.000001	T	0.75428	0.3848	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80341	-0.1423	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	696	Q9UPU3	SORC3_HUMAN	Y	696	ENSP00000358715:C696Y	.	C	+	2	0	0	SORCS3	106949824	106949824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.890000	0.99128	0.650000	0.86243	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000	NM_014978			97	95		439	426	1		1			0	0	130	0		1	0	0	0	0	0	0	97	439
SORCS3	22986	broad.mit.edu	37	10	106974214	106974214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106974214T>C	ENST00000369701.3	+	18	2617	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	797					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CGGCGGATTGTGTCCAACAAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3	1.000000	0.160000	4.500000e-01	2.200000e-01	0.310000	0.373183	0.310000	0.300000																										0				131						c.(2389-2391)gTg>gCg		sortilin-related VPS10 domain containing receptor 3							123.0	103.0	109.0					10																	106974214		2203	4300	6503	SO:0001583	missense	22986	0	0					g.chr10:106974214T>C	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.2390T>C	chr10.hg19:g.106974214T>C	ENSP00000358715:p.Val797Ala	0					SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	p.V797A	NM_014978.1	NP_055793.1	1	2	3	2.008551	Q9UPU3	SORC3_HUMAN		18	2617	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	0	1	hg19	c.2390T>C	CCDS7558.1	0	.	.	.	.	.	.	.	.	.	.	t	27.2	4.810777	0.90707	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.68624	-0.34;-0.34	5.89	5.89	0.94794	5.89	5.89	0.94794	VPS10 (1);PKD domain (1);	0.226239	0.38492	N	0.001679	T	0.71417	0.3337	L	0.40543	1.245	0.58432	D	0.999999	D	0.56035	0.974	P	0.57101	0.813	T	0.69778	-0.5053	9	.	.	.	.	16.3122	0.82883	0.0:0.0:0.0:1.0	.	797	Q9UPU3	SORC3_HUMAN	A	797;83	ENSP00000358715:V797A;ENSP00000358713:V83A	.	V	+	2	0	0	SORCS3	106964204	106964204	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	4.741000	0.62095	2.251000	0.74343	0.456000	0.33151	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-10.670600	1	0.170000	NM_014978			11	11		430	417	0		1			0	0	86	0		9.980825e-01	0	0	0	0	0	0	11	430
IDI1	3422	broad.mit.edu	37	10	1088604	1088604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	112	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443																																						ENST00000381344.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(505-507)Ctg>Ttg		isopentenyl-diphosphate delta isomerase 1							102.0	92.0	96.0					10																	1088604		2203	4300	6503	SO:0001819	synonymous_variant	3422	0	0					g.chr10:1088604G>A	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.505C>T	chr10.hg19:g.1088604G>A		0					IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR	p.L169L	NM_004508.2	NP_004499.2	1	2	3	2.000167	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	4	671	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Silent	SNP	ENST00000381344.3	1	1	hg19	c.505C>T	CCDS7056.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	0	0	1		2	2	2	0		0	0	60		60	57	1	2.060000	-20.000000	1	0.170000	NM_004508			60	58		284	281	1		1	1		0	0	60	0		1	1	0	114	0	221	0	60	284
SORCS3	22986	broad.mit.edu	37	10	107016608	107016608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1123					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGGCACAGCAGCTCAGCCA	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				131						c.(3367-3369)agC>agT		sortilin-related VPS10 domain containing receptor 3							159.0	134.0	143.0					10																	107016608		2203	4300	6503	SO:0001819	synonymous_variant	22986	0	0					g.chr10:107016608C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3369C>T	chr10.hg19:g.107016608C>T		0						p.S1123S	NM_014978.1	NP_055793.1	1	2	3	2.008551	Q9UPU3	SORC3_HUMAN		25	3596	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	1	1	hg19	c.3369C>T	CCDS7558.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.732650	1	0.170000	NM_014978			34	34		157	156	1		1			0	0	45	0		1	0	0	0	0	0	0	34	157
SORCS1	114815	broad.mit.edu	37	10	108923970	108923970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	105					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.S105S(2)		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)		TCCTCCGGCCGGAGCGTGCAG	0.701																																						ENST00000263054.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.S105S(2)	endometrium(2)	127						c.(313-315)tcC>tcT		sortilin-related VPS10 domain containing receptor 1							17.0	18.0	18.0					10																	108923970		2199	4297	6496	SO:0001819	synonymous_variant	114815	2	121176	31				g.chr10:108923970G>A	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.315C>T	chr10.hg19:g.108923970G>A		0					SORCS1_ENST00000344440.6_Silent_p.S105S	p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	1	2	3	2.008551	Q8WY21	SORC1_HUMAN		1	322	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	1	1	hg19	c.315C>T	CCDS7559.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	1	0	1		2	2	7	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_052918			37	37		142	139	0		1		1	0	1	42	528		1	0	1	0	158	0	532	37	142
ADD3	120	broad.mit.edu	37	10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000356080.4	+	5	929	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000277900.8_Missense_Mutation_p.N188D|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	188						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368																																						ENST00000356080.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(562-564)Aat>Gat		adducin 3 (gamma)							77.0	75.0	76.0					10																	111877175		2203	4300	6503	SO:0001583	missense	120	0	0					g.chr10:111877175A>G	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.562A>G	chr10.hg19:g.111877175A>G	ENSP00000348381:p.Asn188Asp	0					ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000277900.8_Missense_Mutation_p.N188D	p.N188D	NM_016824.3	NP_058432.1	1	2	3	2.008551	Q9UEY8	ADDG_HUMAN		5	929	+		Breast(234;0.052)|Lung NSC(174;0.223)	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	1	1	hg19	c.562A>G	CCDS7561.1	1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748606	0.89753	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.15603	2.41;2.41;2.41	5.8	4.65	0.58169	5.8	4.65	0.58169	Class II aldolase/adducin, N-terminal (3);	0.168597	0.64402	D	0.000006	T	0.22437	0.0541	L	0.33668	1.02	0.42578	D	0.993209	P;P	0.36712	0.466;0.566	P;B	0.47864	0.559;0.423	T	0.02917	-1.1094	10	0.87932	D	0	-7.4886	12.0599	0.53557	0.9321:0.0:0.0679:0.0	.	188;188	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	D	188	ENSP00000353286:N188D;ENSP00000348381:N188D;ENSP00000277900:N188D	ENSP00000277900:N188D	N	+	1	0	0	ADD3	111867165	111867165	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.268000	0.78473	0.982000	0.38575	0.533000	0.62120	AAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_019903			40	40		177	176	1		1	1		0	0	39	0		1	1	0	53	0	180	0	40	177
SMC3	9126	broad.mit.edu	37	10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	15					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)			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)		CGAAGTTACAGAGATCAAACA	0.313																																						ENST00000361804.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(43-45)aGa>aTa		structural maintenance of chromosomes 3							165.0	163.0	164.0					10																	112328724		2203	4298	6501	SO:0001583	missense	9126	0	0					g.chr10:112328724G>T	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.44G>T	chr10.hg19:g.112328724G>T	ENSP00000354720:p.Arg15Ile	0					SMC3_ENST00000462899.1_3'UTR	p.R15I	NM_005445.3	NP_005436.1	1	2	3	2.008551	Q9UQE7	SMC3_HUMAN		2	170	+		Breast(234;0.0848)|Lung NSC(174;0.238)	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	1	1	hg19	c.44G>T	CCDS31285.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.193181	0.94960	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.53	5.53	0.82687	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95983	0.8979	10	0.56958	D	0.05	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	15	Q9UQE7	SMC3_HUMAN	I	15	ENSP00000354720:R15I	ENSP00000354720:R15I	R	+	2	0	0	SMC3	112318714	112318714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.587000	0.87381	0.563000	0.77884	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.724182	1	0.170000	NM_005445			48	47		267	265	1		1	1		0	0	55	0		1	9.995159e-01	0	20	0	46	0	48	267
SMC3	9126	broad.mit.edu	37	10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	snoU13_ENST00000458966.1_RNA|SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	57					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)			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)		AGTCATCTTCGTCCAGAACAG	0.299																																						ENST00000361804.4	1.000000	0.490000	1	6.300000e-01	0.810000	0.812009	0.810000	1.000000																										0				39						c.(169-171)cGt>cAt		structural maintenance of chromosomes 3							134.0	130.0	132.0					10																	112335133		2203	4300	6503	SO:0001583	missense	9126	0	0					g.chr10:112335133G>A	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.170G>A	chr10.hg19:g.112335133G>A	ENSP00000354720:p.Arg57His	0					SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	p.R57H	NM_005445.3	NP_005436.1	1	2	3	2.008551	Q9UQE7	SMC3_HUMAN		4	296	+		Breast(234;0.0848)|Lung NSC(174;0.238)	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	1	1	hg19	c.170G>A	CCDS31285.1	0	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823357	0.90873	.	.	ENSG00000108055	ENST00000361804	T	0.77229	-1.08	5.37	5.37	0.77165	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.050875	0.85682	D	0.000000	D	0.89522	0.6739	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90974	0.4822	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.1307:0.8693:0.0	.	57	Q9UQE7	SMC3_HUMAN	H	57	ENSP00000354720:R57H	ENSP00000354720:R57H	R	+	2	0	0	SMC3	112325123	112325123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.677000	0.91161	0.467000	0.42956	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.221826	1	0.170000	NM_005445			18	18		253	252	1		1	1		0	0	61	0		9.999840e-01	9.968399e-01	0	18	0	115	0	18	253
SHOC2	8036	broad.mit.edu	37	10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	208					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)			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)		AACTACTGTGGAAAAGGACAT	0.378																																						ENST00000369452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(622-624)Gaa>Aaa		soc-2 suppressor of clear homolog (C. elegans)							74.0	75.0	75.0					10																	112724738		2203	4300	6503	SO:0001583	missense	8036	0	0					g.chr10:112724738G>A	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.622G>A	chr10.hg19:g.112724738G>A	ENSP00000358464:p.Glu208Lys	0					SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	p.E208K	NM_007373.3	NP_031399.2	1	2	3	2.008551	Q9UQ13	SHOC2_HUMAN		2	967	+			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	1	1	hg19	c.622G>A	CCDS7568.1	1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483696	0.63962	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.79653	1.83;1.85;-1.29	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	N	0.08118	0	0.80722	D	1	D;B	0.56035	0.974;0.016	D;B	0.70487	0.969;0.007	D	0.85741	0.1337	10	0.87932	D	0	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	208;208	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	K	208;208;44	ENSP00000265277:E208K;ENSP00000358464:E208K;ENSP00000408275:E44K	ENSP00000265277:E208K	E	+	1	0	0	SHOC2	112714728	112714728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.665000	0.90641	0.561000	0.74099	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_007373			64	64		345	339	1		1	1		0	0	77	0		1	1	0	49	0	104	0	64	345
SHOC2	8036	broad.mit.edu	37	10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	579					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)			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)		GGTCCATATCGTGCCATGGTC	0.398																																						ENST00000369452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1735-1737)cGt>cAt		soc-2 suppressor of clear homolog (C. elegans)							70.0	69.0	70.0					10																	112771563		2203	4300	6503	SO:0001583	missense	8036	0	0					g.chr10:112771563G>A	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.1736G>A	chr10.hg19:g.112771563G>A	ENSP00000358464:p.Arg579His	0					SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	p.R579H	NM_007373.3	NP_031399.2	1	2	3	2.008551	Q9UQ13	SHOC2_HUMAN		9	2081	+			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	1	1	hg19	c.1736G>A	CCDS7568.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703277	0.68501	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.39229	1.48;1.09;1.37	5.64	4.74	0.60224	5.64	4.74	0.60224	.	0.045276	0.85682	N	0.000000	T	0.58323	0.2114	L	0.49126	1.545	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.74023	0.002;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	.	14.7556	0.69560	0.07:0.0:0.93:0.0	.	533;579	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	533;579;369	ENSP00000265277:R533H;ENSP00000358464:R579H;ENSP00000408275:R369H	ENSP00000265277:R533H	R	+	2	0	0	SHOC2	112761553	112761553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	1.369000	0.46134	0.655000	0.94253	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_007373			64	64		289	284	1		1	1		0	0	78	0		1	1	0	36	0	137	0	64	289
WDR37	22884	broad.mit.edu	37	10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q|WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483																																						ENST00000358220.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				17						c.(559-561)Gag>Cag		WD repeat domain 37							97.0	84.0	88.0					10																	1132252		2203	4300	6503	SO:0001583	missense	22884	0	0					g.chr10:1132252G>C	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.559G>C	chr10.hg19:g.1132252G>C	ENSP00000350954:p.Glu187Gln	0					WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q|WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q	p.E187Q			1	2	3	2.000167	Q9Y2I8	WDR37_HUMAN		7	703	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	1	1	hg19	c.559G>C	CCDS7057.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850432	0.51270	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;D;T;D	0.81996	4.98;-1.56;4.98;-1.56	5.62	5.62	0.85841	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047953	0.85682	N	0.000000	T	0.78874	0.4352	L	0.43598	1.365	0.80722	D	1	B;P;B	0.43477	0.361;0.808;0.098	B;B;B	0.39706	0.068;0.307;0.031	T	0.76953	-0.2768	10	0.26408	T	0.33	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	187;187;187	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Q	187;187;187;154	ENSP00000350954:E187Q;ENSP00000370730:E187Q;ENSP00000263150:E187Q;ENSP00000404346:E154Q	ENSP00000263150:E187Q	E	+	1	0	0	WDR37	1122252	1122252	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	9.145000	0.94634	2.637000	0.89404	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.339802	1	0.170000	NM_014023			32	30		177	173	1		1	1		0	0	43	0		1	9.837107e-01	0	12	0	27	0	32	177
CELF2	10659	broad.mit.edu	37	10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000379261.4	+	7	718	c.626T>C	c.(625-627)tTt>tCt	p.F209S	CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	209	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379261.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(625-627)tTt>tCt		CUGBP, Elav-like family member 2							46.0	50.0	48.0					10																	11312657		2065	4225	6290	SO:0001583	missense	10659	0	0					g.chr10:11312657T>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.626T>C	chr10.hg19:g.11312657T>C	ENSP00000368563:p.Phe209Ser	0		OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S	p.F209S	NM_001025077.2	NP_001020248.1	1	2	3	2.000167	O95319	CELF2_HUMAN		7	718	+			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	1	1	hg19	c.626T>C	CCDS44354.1	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222595	0.79464	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.7	5.7	0.88788	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.99;0.999;0.997;0.992	P;P;P;D;D;P	0.80764	0.729;0.799;0.66;0.994;0.945;0.799	T	0.06463	-1.0825	10	0.87932	D	0	-11.1953	15.9599	0.79923	0.0:0.0:0.0:1.0	.	193;209;204;216;204;209	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	S	209;209;216;216;185;185;185;185;185;185;98;15	ENSP00000368563:F209S;ENSP00000406451:F209S;ENSP00000389951:F216S;ENSP00000443926:F216S;ENSP00000382743:F185S;ENSP00000404834:F185S;ENSP00000315328:F185S;ENSP00000346426:F185S;ENSP00000388530:F185S;ENSP00000438884:F98S	ENSP00000315328:F185S	F	+	2	0	0	CELF2	11352663	11352663	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.988000	0.88194	2.153000	0.67306	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000				56	55		231	229	1		1	0		0	0	66	0		1	9.999248e-01	0	0	0	61	0	56	231
CELF2	10659	broad.mit.edu	37	10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000379261.4	+	11	1228	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	379	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577																																						ENST00000379261.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1135-1137)aCc>aTc		CUGBP, Elav-like family member 2							114.0	109.0	110.0					10																	11363230		2076	4217	6293	SO:0001583	missense	10659	0	0					g.chr10:11363230C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1136C>T	chr10.hg19:g.11363230C>T	ENSP00000368563:p.Thr379Ile	0					CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I	p.T379I	NM_001025077.2	NP_001020248.1	1	2	3	2.000167	O95319	CELF2_HUMAN		11	1228	+			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	1	1	hg19	c.1136C>T	CCDS44354.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088708	0.76756	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	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	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.150107	0.64402	D	0.000016	T	0.65048	0.2654	L	0.46157	1.445	0.58432	D	0.999999	P;B;B;P;P	0.37330	0.574;0.167;0.165;0.584;0.59	B;B;B;B;B	0.43478	0.421;0.063;0.029;0.239;0.239	T	0.66244	-0.5972	10	0.56958	D	0.05	-8.2134	19.2874	0.94084	0.0:1.0:0.0:0.0	.	367;380;392;392;379	B4DDE7;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;CELF2_HUMAN	I	379;379;392;392;361;359;361;361;369;361;274;185	ENSP00000368563:T379I;ENSP00000406451:T379I;ENSP00000389951:T392I;ENSP00000443926:T392I;ENSP00000382743:T361I;ENSP00000404834:T359I;ENSP00000315328:T361I;ENSP00000346426:T361I;ENSP00000388530:T361I;ENSP00000438884:T274I	ENSP00000315328:T361I	T	+	2	0	0	CELF2	11403236	11403236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.789000	0.95967	0.558000	0.71614	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-20.000000	1	0.170000				79	77		427	423	1		1	0		0	0	74	0		1	9.979091e-01	0	0	0	52	0	79	427
ADRA2A	150	broad.mit.edu	37	10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	415					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGGTTCGGCTACTGCAA	0.572																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1288-1290)Ggc>Agc		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)						144.0	128.0	134.0					10																	112839042		2203	4300	6503	SO:0001583	missense	150	0	0					g.chr10:112839042G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1288G>A	chr10.hg19:g.112839042G>A	ENSP00000280155:p.Gly430Ser	0						p.G430S	NM_000681.3	NP_000672.3	1	2	3	2.008551	P08913	ADA2A_HUMAN		1	2253	+		Breast(234;0.0735)|Lung NSC(174;0.238)	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	1	1	hg19	c.1288G>A	CCDS7569.2	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756472	0.89843	.	.	ENSG00000150594	ENST00000280155	T	0.36157	1.27	3.82	3.82	0.43975	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.60676	0.2287	M	0.90814	3.15	0.58432	D	0.999999	D	0.61697	0.99	P	0.55615	0.78	T	0.73943	-0.3823	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	415	P08913	ADA2A_HUMAN	S	430	ENSP00000280155:G430S	ENSP00000280155:G430S	G	+	1	0	0	ADRA2A	112829032	112829032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.350000	0.97070	1.936000	0.56123	0.462000	0.41574	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-2.938680	1	0.170000	NM_000681			142	140		668	657	1		1	1		0	0	144	0		1	1	0	161	0	236	0	142	668
GPAM	57678	broad.mit.edu	37	10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	666					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)			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)		GGACTGATATCTTCCTGGTCA	0.483																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1996-1998)Gat>Tat		glycerol-3-phosphate acyltransferase, mitochondrial							119.0	98.0	105.0					10																	113917132		2203	4300	6503	SO:0001583	missense	57678	0	0					g.chr10:113917132C>A	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.1996G>T	chr10.hg19:g.113917132C>A	ENSP00000265276:p.Asp666Tyr	0					GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y	p.D666Y			1	2	3	2.008551	Q9HCL2	GPAT1_HUMAN		19	2193	-			Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	1	1	hg19	c.1996G>T	CCDS7570.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798844	0.90538	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69806	-0.43;-0.43;-0.42	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.163773	0.53938	D	0.000052	T	0.76513	0.3998	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.888	T	0.73014	-0.4116	10	0.35671	T	0.21	-16.7223	18.2342	0.89944	0.0:1.0:0.0:0.0	.	666;666	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	666	ENSP00000265276:D666Y;ENSP00000409242:D666Y;ENSP00000358433:D666Y	ENSP00000265276:D666Y	D	-	1	0	0	GPAM	113907122	113907122	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_020918			57	57		233	226	0		1	1		0	0	53	0		1	8.719588e-01	0	4	0	13	0	57	233
GPAM	57678	broad.mit.edu	37	10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000369425.1_Missense_Mutation_p.D281N|GPAM_ENST00000423155.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	281					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)			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)		GGTGTTTCATCGAGCCTTCGT	0.373																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(841-843)Gat>Aat		glycerol-3-phosphate acyltransferase, mitochondrial							133.0	126.0	128.0					10																	113928664		2203	4300	6503	SO:0001583	missense	57678	1	121412	27				g.chr10:113928664C>T	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.841G>A	chr10.hg19:g.113928664C>T	ENSP00000265276:p.Asp281Asn	0					GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N	p.D281N			1	2	3	2.008551	Q9HCL2	GPAT1_HUMAN		10	1038	-			Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	1	1	hg19	c.841G>A	CCDS7570.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640772	0.67244	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.050745	0.85682	D	0.000000	D	0.93184	0.7829	L	0.31065	0.9	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.83	D	0.92607	0.6096	10	0.40728	T	0.16	-26.5966	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	281;281	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	281	ENSP00000265276:D281N;ENSP00000409242:D281N;ENSP00000358433:D281N	ENSP00000265276:D281N	D	-	1	0	0	GPAM	113918654	113918654	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	5.084000	0.64462	2.620000	0.88729	0.643000	0.83706	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-2.948875	1	0.170000	NM_020918			67	66		330	324	1		1	1		0	0	82	0		1	9.034691e-01	0	11	0	11	0	67	330
GPAM	57678	broad.mit.edu	37	10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000369425.1_Missense_Mutation_p.I83T|GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000480130.1_5'Flank			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	83					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)			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)		CAAAGACGGGATACTGGGGTT	0.308																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(247-249)aTc>aCc		glycerol-3-phosphate acyltransferase, mitochondrial							45.0	50.0	48.0					10																	113937793		2203	4297	6500	SO:0001583	missense	57678	0	0					g.chr10:113937793A>G	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.248T>C	chr10.hg19:g.113937793A>G	ENSP00000265276:p.Ile83Thr	0					GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000480130.1_5'Flank|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T	p.I83T			1	2	3	2.008551	Q9HCL2	GPAT1_HUMAN		5	445	-			Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	1	1	hg19	c.248T>C	CCDS7570.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010639	0.75046	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.40756	1.02;1.02;1.02	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.55213	1.73	0.58432	D	0.999998	D;D	0.71674	0.981;0.998	D;D	0.76071	0.966;0.987	T	0.50659	-0.8802	10	0.09843	T	0.71	-21.1449	15.1293	0.72511	1.0:0.0:0.0:0.0	.	83;83	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	T	83	ENSP00000265276:I83T;ENSP00000409242:I83T;ENSP00000358433:I83T	ENSP00000265276:I83T	I	-	2	0	0	GPAM	113927783	113927783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.603000	0.90871	2.044000	0.60594	0.528000	0.53228	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-19.998100	1	0.170000	NM_020918			40	40		189	186	1		1	1		0	0	49	0		1	7.949247e-01	0	7	0	9	0	40	189
TECTB	6975	broad.mit.edu	37	10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	192	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				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)		GGAAGCCAAAGGGTTAAGCAT	0.388																																						ENST00000369422.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(574-576)Ggg>Tgg		tectorin beta							150.0	150.0	150.0					10																	114053586		2203	4300	6503	SO:0001583	missense	6975	0	0					g.chr10:114053586G>T	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.574G>T	chr10.hg19:g.114053586G>T	ENSP00000358430:p.Gly192Trp	0						p.G192W	NM_058222.1	NP_478129.1	1	2	3	2.008551	Q96PL2	TECTB_HUMAN		5	574	+		Colorectal(252;0.198)	Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	1	1	hg19	c.574G>T	CCDS7571.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178868	0.78564	.	.	ENSG00000119913	ENST00000369422	D	0.82526	-1.62	5.97	5.97	0.96955	5.97	5.97	0.96955	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.166094	0.53938	D	0.000052	D	0.90215	0.6941	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.90484	0.4462	10	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	192	Q96PL2	TECTB_HUMAN	W	192	ENSP00000358430:G192W	ENSP00000358430:G192W	G	+	1	0	0	TECTB	114043576	114043576	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.328000	0.90014	2.836000	0.97738	0.655000	0.94253	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.945079	1	0.170000	NM_058222			51	50		226	221	1		1	0		0	0	66	0		1	0	0	1	0	0	0	51	226
TECTB	6975	broad.mit.edu	37	10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	207	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				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)		TGTTGGGCCACCCCCTCGGCT	0.448																																						ENST00000369422.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(619-621)aCc>aTc		tectorin beta							101.0	100.0	100.0					10																	114053768		2203	4300	6503	SO:0001583	missense	6975	0	0					g.chr10:114053768C>T	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.620C>T	chr10.hg19:g.114053768C>T	ENSP00000358430:p.Thr207Ile	0						p.T207I	NM_058222.1	NP_478129.1	1	2	3	2.008551	Q96PL2	TECTB_HUMAN		6	620	+		Colorectal(252;0.198)	Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	1	1	hg19	c.620C>T	CCDS7571.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960388	0.92791	.	.	ENSG00000119913	ENST00000369422	D	0.86097	-2.07	5.67	5.67	0.87782	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.102794	0.64402	D	0.000003	D	0.93478	0.7919	M	0.88241	2.94	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.94079	0.7342	10	0.87932	D	0	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	207	Q96PL2	TECTB_HUMAN	I	207	ENSP00000358430:T207I	ENSP00000358430:T207I	T	+	2	0	0	TECTB	114043758	114043758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.342822	1	0.170000	NM_058222			46	46		208	205	1		1			0	0	44	0		1	0	0	0	0	0	0	46	208
TECTB	6975	broad.mit.edu	37	10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	250	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				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)		CAATGCTTTCCGGTTCCAGAA	0.537																																						ENST00000369422.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(748-750)Cgg>Tgg		tectorin beta							132.0	119.0	123.0					10																	114057903		2203	4300	6503	SO:0001583	missense	6975	4	121412	38				g.chr10:114057903C>T	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.748C>T	chr10.hg19:g.114057903C>T	ENSP00000358430:p.Arg250Trp	0						p.R250W	NM_058222.1	NP_478129.1	1	2	3	2.008551	Q96PL2	TECTB_HUMAN		7	748	+		Colorectal(252;0.198)	Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	1	1	hg19	c.748C>T	CCDS7571.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.191743	0.94923	.	.	ENSG00000119913	ENST00000369422	D	0.84370	-1.84	6.03	6.03	0.97812	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.72032	D	0.01	-24.7951	20.5666	0.99351	0.0:1.0:0.0:0.0	.	250	Q96PL2	TECTB_HUMAN	W	250	ENSP00000358430:R250W	ENSP00000358430:R250W	R	+	1	2	2	TECTB	114047893	114047893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.575000	0.74018	2.854000	0.98071	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.762957	1	0.170000	NM_058222			60	60		267	264	1		1			0	0	62	0		1	0	0	0	0	0	0	60	267
ACSL5	51703	broad.mit.edu	37	10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	253					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|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)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502																																						ENST00000393081.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				21						c.(757-759)Gaa>Aaa		acyl-CoA synthetase long-chain family member 5							95.0	80.0	85.0					10																	114170354		2203	4300	6503	SO:0001583	missense	51703	0	0					g.chr10:114170354G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.757G>A	chr10.hg19:g.114170354G>A	ENSP00000376796:p.Glu253Lys	0					ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|RP11-324O2.3_ENST00000598447.1_RNA	p.E253K	NM_203380.1	NP_976314.1	1	2	3	2.008551	Q9ULC5	ACSL5_HUMAN		9	1064	+		Colorectal(252;0.117)|Breast(234;0.222)	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	1	1	hg19	c.757G>A	CCDS7573.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338077	0.60963	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.39	4.48	0.54585	5.39	4.48	0.54585	AMP-dependent synthetase/ligase (1);	0.386932	0.31051	N	0.008355	T	0.16811	0.0404	M	0.71036	2.16	0.58432	D	0.999993	B;B;B;B	0.19073	0.01;0.033;0.016;0.019	B;B;B;B	0.23150	0.044;0.033;0.03;0.029	T	0.03095	-1.1073	10	0.49607	T	0.09	-19.5706	8.8461	0.35170	0.1669:0.0:0.8331:0.0	.	35;253;309;253	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	K	253;253;309;253;253;35	ENSP00000346680:E253K;ENSP00000376796:E253K;ENSP00000348429:E309K;ENSP00000403647:E253K;ENSP00000346223:E253K;ENSP00000358418:E35K	ENSP00000346223:E253K	E	+	1	0	0	ACSL5	114160344	114160344	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.136000	0.64783	2.524000	0.85096	0.655000	0.94253	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_016234			29	29		154	152	1		1	1		0	0	42	0		1	9.999997e-01	0	7	0	131	0	29	154
ZDHHC6	64429	broad.mit.edu	37	10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	413					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)			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)		CAGCAGCTATCTATTTTTCTT	0.373																																						ENST00000369405.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				14						c.(1237-1239)aGa>aAa		zinc finger, DHHC-type containing 6							86.0	84.0	84.0					10																	114190566		2203	4300	6503	SO:0001583	missense	64429	0	0					g.chr10:114190566C>T	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.1238G>A	chr10.hg19:g.114190566C>T	ENSP00000358413:p.Arg413Lys	0					ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	p.R413K	NM_022494.1	NP_071939.1	1	2	3	2.008551	Q9H6R6	ZDHC6_HUMAN		11	1661	-		Colorectal(252;0.198)	D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	1	1	hg19	c.1238G>A	CCDS7574.1	1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260108	0.39995	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64803	0.62;-0.12	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39633	1.23	0.40040	D	0.975638	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.46843	-0.9162	10	0.27785	T	0.31	-1.2885	15.0839	0.72135	0.0:0.93:0.0:0.07	.	409;413	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	413;409	ENSP00000358413:R413K;ENSP00000358412:R409K	ENSP00000358412:R409K	R	-	2	0	0	ZDHHC6	114180556	114180556	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.275000	0.51639	2.785000	0.95823	0.650000	0.86243	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_022494			48	48		285	276	1		1	1		0	0	67	0		1	1	0	48	0	132	0	48	285
VTI1A	143187	broad.mit.edu	37	10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	192					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493			T	TCF7L2	colorectal																																	ENST00000393077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q25.2	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A				E	E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				6						c.(574-576)Cgc>Tgc		vesicle transport through interaction with t-SNAREs 1A							144.0	138.0	140.0					10																	114575062		2057	4191	6248	SO:0001583	missense	143187	0	0					g.chr10:114575062C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.574C>T	chr10.hg19:g.114575062C>T	ENSP00000376792:p.Arg192Cys	0						p.R192C	NM_145206.2	NP_660207.2	1	2	3	2.008551	Q96AJ9	VTI1A_HUMAN		8	690	+		Colorectal(252;0.0314)|Breast(234;0.183)	A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	1	1	hg19	c.574C>T	CCDS7575.2	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605788	0.87157	.	.	ENSG00000151532	ENST00000393077	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	3.193000	0.00659	N	0.000585	D	0.86961	0.6059	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71882	-0.4458	9	0.87932	D	0	-49.539	20.5407	0.99260	0.0:1.0:0.0:0.0	.	192	Q5W0D7	.	C	192	.	ENSP00000376792:R192C	R	+	1	0	0	VTI1A	114565052	114565052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-3.007751	1	0.170000				68	66		282	277	1		1	1		0	0	83	0		1	9.996114e-01	0	11	0	40	0	68	282
USP6NL	9712	broad.mit.edu	37	10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M|USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	668					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532																																						ENST00000609104.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				32						c.(2002-2004)aGg>aTg		USP6 N-terminal like							25.0	26.0	26.0					10																	11504924		1906	4127	6033	SO:0001583	missense	9712	0	0					g.chr10:11504924C>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2003G>T	chr10.hg19:g.11504924C>A	ENSP00000476462:p.Arg668Met	0					USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M|USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M	p.R668M	NM_014688.2	NP_055503.1	1	2	3	2.000167	Q92738	US6NL_HUMAN		15	2397	-			A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	1	1	hg19	c.2003G>T	CCDS53492.1	1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575025	0.65878	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.59	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.162898	0.42172	D	0.000760	T	0.14700	0.0355	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.818;0.912	T	0.09487	-1.0672	10	0.51188	T	0.08	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	668;685	Q92738;Q92738-2	US6NL_HUMAN;.	M	668;685;668	ENSP00000277575:R685M;ENSP00000368539:R668M	ENSP00000277575:R685M	R	-	2	0	0	USP6NL	11544930	11544930	0.038000	0.19896	0.042000	0.18584	0.008000	0.06430	2.740000	0.47418	2.941000	0.99782	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_014688			26	26		97	93	1		1	1		0	0	24	0		1	9.999710e-01	0	14	0	54	0	26	97
USP6NL	9712	broad.mit.edu	37	10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N|USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	330					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGAAAAAATCCTTTGCCAGG	0.353																																						ENST00000609104.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994907	0.990000	1.000000																										0				32						c.(988-990)Gat>Aat		USP6 N-terminal like							44.0	42.0	43.0					10																	11523859		1793	4062	5855	SO:0001583	missense	9712	0	0					g.chr10:11523859C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.988G>A	chr10.hg19:g.11523859C>T	ENSP00000476462:p.Asp330Asn	0					USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N|USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N	p.D330N	NM_014688.2	NP_055503.1	1	2	3	2.000167	Q92738	US6NL_HUMAN		14	1382	-			A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	1	1	hg19	c.988G>A	CCDS53492.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104746	0.56291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.22336	1.96;1.96	5.55	3.65	0.41850	5.55	3.65	0.41850	Rab-GAP/TBC domain (1);	0.215793	0.48286	N	0.000186	T	0.17238	0.0414	L	0.37800	1.135	0.58432	D	0.999999	P;P	0.37824	0.609;0.537	B;B	0.36186	0.17;0.219	T	0.02156	-1.1204	10	0.49607	T	0.09	.	11.8328	0.52305	0.0:0.8678:0.0:0.1322	.	330;347	Q92738;Q92738-2	US6NL_HUMAN;.	N	330;347;330	ENSP00000277575:D347N;ENSP00000368539:D330N	ENSP00000277575:D347N	D	-	1	0	0	USP6NL	11563865	11563865	0.995000	0.38212	0.992000	0.48379	0.988000	0.76386	1.455000	0.35190	0.654000	0.30846	0.591000	0.81541	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-19.999980	1	0.170000	NM_014688			15	15		100	100	1		1	1		0	0	30	0		9.999100e-01	8.485427e-01	0	5	0	20	0	15	100
TCF7L2	6934	broad.mit.edu	37	10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000355995.4	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000543371.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	441					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)		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)		TTTTCAGAACACAGCGAATGT	0.338			T	VTI1A	colorectal																																	ENST00000355995.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q25.3	10q25.3	6934	T	transcription factor 7-like 2				E	E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				41						c.(1321-1323)cAc>cGc		transcription factor 7-like 2 (T-cell specific, HMG-box)							101.0	97.0	98.0					10																	114918429		2202	4299	6501	SO:0001583	missense	6934	0	0					g.chr10:114918429A>G	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.1322A>G	chr10.hg19:g.114918429A>G	ENSP00000348274:p.His441Arg	0					TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000536810.1_Intron	p.H441R			1	2	3	2.008551	Q9NQB0	TF7L2_HUMAN		13	1829	+		Breast(234;0.058)|Colorectal(252;0.0615)	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	1	1	hg19	c.1322A>G		1	.	.	.	.	.	.	.	.	.	.	a	8.094	0.775101	0.16051	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99150	-4.91;-4.91;-5.49;-5.49;-4.91;-5.48;-4.93	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.113107	0.64402	D	0.000020	D	0.98830	0.9605	L	0.53249	1.67	0.80722	D	1	P;B;B;B;P;B;D;D;B;D;B;D	0.58970	0.932;0.0;0.0;0.0;0.932;0.0;0.973;0.984;0.0;0.973;0.013;0.973	P;B;B;B;P;B;D;D;B;D;B;D	0.69479	0.84;0.0;0.0;0.001;0.888;0.001;0.921;0.964;0.0;0.921;0.014;0.921	D	0.99795	1.1033	10	0.25751	T	0.34	-14.8426	15.9154	0.79512	1.0:0.0:0.0:0.0	.	298;258;340;441;312;356;414;418;418;423;414;418	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	R	441;441;441;441;418;418;157	ENSP00000348274:H441R;ENSP00000440547:H441R;ENSP00000446172:H441R;ENSP00000443626:H441R;ENSP00000358404:H418R;ENSP00000344823:H418R;ENSP00000443883:H157R	ENSP00000344823:H418R	H	+	2	0	0	TCF7L2	114908419	114908419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.178000	0.69098	0.533000	0.62120	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_030756			55	53		256	253	1		1	1		0	0	46	0		1	9.029112e-01	0	3	0	18	0	55	256
HABP2	3026	broad.mit.edu	37	10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	481	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000250}.			cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AACTCCCGCCAACTCTATGAC	0.512																																						ENST00000351270.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1441-1443)cAa>cCa		hyaluronan binding protein 2	Hyaluronan(DB08818)						110.0	91.0	98.0					10																	115345621		2203	4300	6503	SO:0001583	missense	3026	1	121412	32				g.chr10:115345621A>C		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1442A>C	chr10.hg19:g.115345621A>C	ENSP00000277903:p.Gln481Pro	0					HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	p.Q481P	NM_004132.3	NP_004123.1	1	2	3	2.008551	Q14520	HABP2_HUMAN		12	1538	+		Colorectal(252;0.0233)|Breast(234;0.0672)	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	1	1	hg19	c.1442A>C	CCDS7577.1	1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807505	0.31961	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88277	-2.36;-2.35	6.03	-4.73	0.03259	6.03	-4.73	0.03259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.624330	0.02695	N	0.111065	D	0.83064	0.5173	N	0.12746	0.255	0.09310	N	1	P	0.44877	0.845	P	0.44811	0.461	T	0.73575	-0.3939	10	0.45353	T	0.12	.	16.0541	0.80782	0.6114:0.0:0.3886:0.0	.	481	Q14520	HABP2_HUMAN	P	455;481	ENSP00000443283:Q455P;ENSP00000277903:Q481P	ENSP00000277903:Q481P	Q	+	2	0	0	HABP2	115335611	115335611	0.000000	0.05858	0.016000	0.15963	0.202000	0.24057	-1.183000	0.03079	-0.637000	0.05516	-1.000000	0.02509	CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_004132			67	67		221	214	1		1	0		0	0	62	0		1	1	0	0	0	138	0	67	221
NRAP	4892	broad.mit.edu	37	10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000359988.3	-	38	4751	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		TTGAGGCGAGCTCGGGTGAAA	0.502																																						ENST00000359988.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(4507-4509)Gct>Act		nebulin-related anchoring protein							170.0	145.0	153.0					10																	115355411		2203	4300	6503	SO:0001583	missense	4892	0	0					g.chr10:115355411C>T		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.4507G>A	chr10.hg19:g.115355411C>T	ENSP00000353078:p.Ala1503Thr	0					NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T	p.A1503T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	1	2	3	2.008551				38	4751	-		Colorectal(252;0.0233)|Breast(234;0.188)		Missense_Mutation	SNP	ENST00000359988.3	1	1	hg19	c.4507G>A	CCDS7579.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770003	0.90020	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.88105	2.93	0.43334	D	0.99537	D;D;D;D	0.89917	1.0;0.977;0.984;0.987	D;D;D;D	0.91635	0.999;0.925;0.915;0.949	D	0.86933	0.2074	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	661;1503;1468;1503	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1511;1476;1503;1468;661	ENSP00000358365:A1511T;ENSP00000358367:A1476T;ENSP00000353078:A1503T;ENSP00000353666:A1468T	ENSP00000353078:A1503T	A	-	1	0	0	NRAP	115345401	115345401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	0	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_006175			81	78		350	343	1		1	0		0	0	113	0		1	0	0	0	0	1	0	81	350
NRAP	4892	broad.mit.edu	37	10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000359988.3	-	34	4143	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		GGCTATATCTCCAGAGGCCCG	0.458																																						ENST00000359988.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(3898-3900)gGa>gTa		nebulin-related anchoring protein							298.0	311.0	306.0					10																	115365537		2203	4300	6503	SO:0001583	missense	4892	0	0					g.chr10:115365537C>A		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.3899G>T	chr10.hg19:g.115365537C>A	ENSP00000353078:p.Gly1300Val	0					NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V	p.G1300V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	1	2	3	2.008551				34	4143	-		Colorectal(252;0.0233)|Breast(234;0.188)		Missense_Mutation	SNP	ENST00000359988.3	1	1	hg19	c.3899G>T	CCDS7579.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893655	0.33442	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16324	2.56;2.56;2.44;2.35	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.298590	0.37483	N	0.002077	T	0.20251	0.0487	L	0.46157	1.445	0.53005	D	0.999964	B;P;B	0.34462	0.325;0.454;0.325	B;B;B	0.38985	0.15;0.287;0.15	T	0.01729	-1.1286	10	0.34782	T	0.22	.	14.7668	0.69646	0.0:0.8558:0.1442:0.0	.	1300;1265;1300	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1308;1273;1300;1265	ENSP00000358365:G1308V;ENSP00000358367:G1273V;ENSP00000353078:G1300V;ENSP00000353666:G1265V	ENSP00000353078:G1300V	G	-	2	0	0	NRAP	115355527	115355527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.155000	0.50700	2.622000	0.88805	0.555000	0.69702	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	1	0	1		2	2	2	0		0	0	452		452	452	1	2.060000	-20.000000	1	0.170000	NM_006175			391	387		1841	1805	1		1			0	0	452	0		1	0	0	0	0	0	0	391	1841
NRAP	4892	broad.mit.edu	37	10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000359988.3	-	21	2433	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		GCTGTCGGTCACGCTGGTGAA	0.577																																						ENST00000359988.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				95						c.(2188-2190)gTg>gCg		nebulin-related anchoring protein							105.0	79.0	88.0					10																	115385861		2203	4300	6503	SO:0001583	missense	4892	0	0					g.chr10:115385861A>G		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.2189T>C	chr10.hg19:g.115385861A>G	ENSP00000353078:p.Val730Ala	0					NRAP_ENST00000369360.3_Missense_Mutation_p.V703A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000360478.3_Missense_Mutation_p.V695A	p.V730A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	1	2	3	2.008551				21	2433	-		Colorectal(252;0.0233)|Breast(234;0.188)		Missense_Mutation	SNP	ENST00000359988.3	1	1	hg19	c.2189T>C	CCDS7579.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719256	0.89205	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.77486	2.375	0.52501	D	0.999958	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.99;0.984	T	0.65928	-0.6049	10	0.62326	D	0.03	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	410;730;695;730	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	A	738;703;730;695;410	ENSP00000358365:V738A;ENSP00000358367:V703A;ENSP00000353078:V730A;ENSP00000353666:V695A	ENSP00000353078:V730A	V	-	2	0	0	NRAP	115375851	115375851	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.949000	0.87791	2.291000	0.77112	0.533000	0.62120	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_006175			19	18		86	84	1		1			0	0	21	0		9.999937e-01	0	0	0	0	0	0	19	86
CASP7	840	broad.mit.edu	37	10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000345633.4	+	6	829	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000452490.2_Missense_Mutation_p.V124I	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	149					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418																																						ENST00000345633.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(445-447)Gta>Ata		caspase 7, apoptosis-related cysteine peptidase							68.0	69.0	69.0					10																	115485189		2203	4300	6503	SO:0001583	missense	840	1	121412	30				g.chr10:115485189G>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.445G>A	chr10.hg19:g.115485189G>A	ENSP00000298701:p.Val149Ile	0					CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369331.4_Splice_Site	p.V149I	NM_033339.4	NP_203125.1	1	2	3	2.008551	P55210	CASP7_HUMAN		6	829	+		Colorectal(252;0.0946)|Breast(234;0.188)	B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	0	1	hg19	c.445G>A	CCDS7581.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.498|8.498	0.863645|0.863645	0.17250|0.17250	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	.|T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56	5.68|5.68	-4.79|-4.79	0.03200|0.03200	5.68|5.68	-4.79|-4.79	0.03200|0.03200	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.614966	.|0.17679	.|N	.|0.165713	.|T	.|0.16085	.|0.0387	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22346	.|0.049;0.009;0.068;0.044	.|B;B;B;B	.|0.17722	.|0.012;0.017;0.011;0.019	.|T	.|0.33007	.|-0.9885	.|10	.|0.13470	.|T	.|0.59	.|.	9.6905|9.6905	0.40125|0.40125	0.0:0.517:0.2157:0.2673|0.0:0.517:0.2157:0.2673	.|.	.|124;157;182;149	.|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	.|I	-1|149;182;149;149;149;124	.|ENSP00000400094:V149I;ENSP00000358327:V182I;ENSP00000298701:V149I;ENSP00000358324:V149I;ENSP00000358321:V149I;ENSP00000398107:V124I	.|ENSP00000298701:V149I	.|V	+|+	.|1	.|0	.|0	CASP7|CASP7	115475179|115475179	115475179|115475179	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.849000|0.849000	0.48306|0.48306	-0.444000|-0.444000	0.06854|0.06854	-0.821000|-0.821000	0.04312|0.04312	-1.245000|-1.245000	0.01525|0.01525	.|GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_033338			50	49		255	247	1		1	1		0	0	48	0		1	9.999658e-01	0	17	0	64	0	50	255
NHLRC2	374354	broad.mit.edu	37	10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.									breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353																																						ENST00000369301.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(568-570)tAt>tGt		NHL repeat containing 2							54.0	59.0	57.0					10																	115636517		2203	4300	6503	SO:0001583	missense	374354	0	0					g.chr10:115636517A>G	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.569A>G	chr10.hg19:g.115636517A>G	ENSP00000358307:p.Tyr190Cys	0						p.Y190C	NM_198514.3	NP_940916.2	1	2	3	2.008551	Q8NBF2	NHLC2_HUMAN		3	781	+			Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	1	1	hg19	c.569A>G	CCDS7585.1	1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359605	0.61403	.	.	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.61	2.91	0.33838	5.61	2.91	0.33838	Thioredoxin-like fold (2);	0.057252	0.64402	D	0.000001	T	0.39489	0.1080	L	0.41492	1.28	0.43819	D	0.996381	D	0.62365	0.991	P	0.50231	0.635	T	0.16689	-1.0394	10	0.46703	T	0.11	-11.2129	8.6969	0.34301	0.5125:0.0:0.0:0.4875	.	190	Q8NBF2	NHLC2_HUMAN	C	190	ENSP00000358307:Y190C	ENSP00000358307:Y190C	Y	+	2	0	0	NHLRC2	115626507	115626507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.032000	0.39892	-0.341000	0.08007	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_198514			91	90		359	353	1		1	1		0	0	46	0		1	9.864809e-01	0	11	0	18	0	91	359
ADRB1	153	broad.mit.edu	37	10	115805121	115805121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	ENST00000369295.2	+	1	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCGGCCGCGCGCCTCGGGCT	0.796																																						ENST00000369295.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999159	0.990000	1.000000																										0				6						c.(1228-1230)cgC>cgT		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)						3.0	4.0	3.0					10																	115805121		1159	2281	3440	SO:0001819	synonymous_variant	153	0	0					g.chr10:115805121C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1230C>T	chr10.hg19:g.115805121C>T		0						p.R410R	NM_000684.2	NP_000675.1	1	2	3	2.008551	P08588	ADRB1_HUMAN		1	1316	+		Colorectal(252;0.172)|Breast(234;0.188)	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	0	1	hg19	c.1230C>T	CCDS7586.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.796	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1	0	0	0		2	2	2	0		0	0	8		8	6	1	2.060000	-20.000000	1	0.170000				10	10		35	32	0		1			0	0	8	0		9.970823e-01	0	0	0	0	0	0	10	35
CCDC186	55088	broad.mit.edu	37	10	115884935	115884935	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		888										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTAGTTCATGCTGGTGTTTAA	0.383																																						ENST00000369287.3	1.000000	0.280000	8.400000e-01	4.000000e-01	0.570000	0.614249	0.570000	0.530000																										0				24						c.(2662-2664)caG>caA									239.0	203.0	215.0					10																	115884935		2202	4299	6501	SO:0001819	synonymous_variant	0	0	0					g.chr10:115884935C>T																												ENST00000369287.3:c.2664G>A	chr10.hg19:g.115884935C>T		0					C10orf118_ENST00000543782.1_3'UTR	p.Q888Q	NM_018017.2	NP_060487.2	1	2	3	2.008551	Q7Z3E2	CC186_HUMAN		16	2930	-		Colorectal(252;0.172)|Breast(234;0.188)	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	1	1	hg19	c.2664G>A	CCDS7587.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-11.442280	1	0.170000				9	8		188	180	1		1	1		0	0	53	0		9.932445e-01	8.407084e-01	0	10	0	62	0	9	188
CCDC186	55088	broad.mit.edu	37	10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403																																						ENST00000369287.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				24						c.(2245-2247)gCt>gTt									126.0	114.0	118.0					10																	115887367		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr10:115887367G>A																												ENST00000369287.3:c.2246C>T	chr10.hg19:g.115887367G>A	ENSP00000358293:p.Ala749Val	0					C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V|C10orf118_ENST00000497592.1_5'Flank	p.A749V	NM_018017.2	NP_060487.2	1	2	3	2.008551	Q7Z3E2	CC186_HUMAN		14	2512	-		Colorectal(252;0.172)|Breast(234;0.188)	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	1	1	hg19	c.2246C>T	CCDS7587.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047970	0.36085	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.24908	1.83	4.89	3.98	0.46160	4.89	3.98	0.46160	.	0.247634	0.40640	N	0.001059	T	0.13072	0.0317	N	0.10874	0.06	0.36466	D	0.866974	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.13361	-1.0512	10	0.26408	T	0.33	.	10.9391	0.47262	0.087:0.0:0.913:0.0	.	347;749	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	V	749;347;855	ENSP00000358293:A749V	ENSP00000358293:A749V	A	-	2	0	0	C10orf118	115877357	115877357	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	6.082000	0.71318	2.251000	0.74343	0.549000	0.68633	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				40	40		261	255	1		1	1		0	0	54	0		1	9.925040e-01	0	13	0	39	0	40	261
CCDC186	55088	broad.mit.edu	37	10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299																																						ENST00000369287.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990117	0.990000	1.000000																										0				24						c.(1138-1140)aAa>aCa									196.0	181.0	186.0					10																	115904338		2202	4299	6501	SO:0001583	missense	0	0	0					g.chr10:115904338T>G																												ENST00000369287.3:c.1139A>C	chr10.hg19:g.115904338T>G	ENSP00000358293:p.Lys380Thr	0					C10orf118_ENST00000543782.1_5'UTR	p.K380T	NM_018017.2	NP_060487.2	1	2	3	2.008551	Q7Z3E2	CC186_HUMAN		6	1405	-		Colorectal(252;0.172)|Breast(234;0.188)	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	1	1	hg19	c.1139A>C	CCDS7587.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328828|4.328828	0.81690|0.81690	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000430353|ENST00000428953	T|.	0.55760|.	0.5|.	5.42|5.42	4.28|4.28	0.50868|0.50868	5.42|5.42	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.70806|0.70806	-0.4772|-0.4772	10|5	0.48119|.	T|.	0.1|.	.|.	9.785|9.785	0.40670|0.40670	0.0:0.0784:0.0:0.9216|0.0:0.0784:0.0:0.9216	.|.	380|.	Q7Z3E2|.	CJ118_HUMAN|.	T|H	380;486|8	ENSP00000358293:K380T|.	ENSP00000358293:K380T|.	K|Q	-|-	2|3	0|2	0|2	C10orf118|C10orf118	115894328|115894328	115894328|115894328	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.989000|0.989000	0.77384|0.77384	4.946000|4.946000	0.63576|0.63576	0.900000|0.900000	0.36469|0.36469	0.456000|0.456000	0.33151|0.33151	AAA|CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				34	34		301	292	1		1	1		0	0	56	0		1	9.920984e-01	0	11	0	58	0	34	301
TDRD1	56165	broad.mit.edu	37	10	115970351	115970351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115970351G>T	ENST00000369280.1	+	12	1856	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	466					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)			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)		TGATCCTGAAGATGTTGGAAA	0.313																																						ENST00000369280.1	1.000000	0.210000	7.400000e-01	3.300000e-01	0.490000	0.535166	0.490000	0.440000																										0				48						c.(1396-1398)Gat>Tat		tudor domain containing 1							84.0	81.0	82.0					10																	115970351		2203	4300	6503	SO:0001583	missense	56165	0	0					g.chr10:115970351G>T	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.1396G>T	chr10.hg19:g.115970351G>T	ENSP00000358286:p.Asp466Tyr	0					TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y	p.D466Y			1	2	3	2.008551	Q9BXT4	TDRD1_HUMAN		12	1856	+		Colorectal(252;0.172)|Breast(234;0.188)	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	0	1	hg19	c.1396G>T		0	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087955	0.55968	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19806	3.0;2.99;2.12;2.41;3.01	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.670270	0.15592	N	0.254378	T	0.45377	0.1339	L	0.59436	1.845	0.36139	D	0.846662	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.964;0.968;0.98;0.986;0.991	T	0.49513	-0.8932	10	0.72032	D	0.01	-11.957	16.8571	0.86009	0.0:0.0:1.0:0.0	.	127;466;466;466;466	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	466;466;466;127;466	ENSP00000358288:D466Y;ENSP00000251864:D466Y;ENSP00000358287:D466Y;ENSP00000402794:D127Y;ENSP00000358286:D466Y	ENSP00000251864:D466Y	D	+	1	0	0	TDRD1	115960341	115960341	0.184000	0.23200	0.763000	0.31416	0.653000	0.38743	2.407000	0.44565	2.637000	0.89404	0.563000	0.77884	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2	0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-9.594231	1	0.170000				7	7		178	175	0		1	0		0	0	38	0		9.800873e-01	0	0	0	0	1	0	7	178
TDRD1	56165	broad.mit.edu	37	10	115985896	115985896	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000369280.1	+	22	3556	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000369281.2_Silent_p.T918T			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)			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)		ACATTGAAACCCTGCCTCTTT	0.443																																						ENST00000369280.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(3094-3096)acC>acT		tudor domain containing 1							137.0	122.0	127.0					10																	115985896		2203	4300	6503	SO:0001819	synonymous_variant	56165	0	0					g.chr10:115985896C>T	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.3096C>T	chr10.hg19:g.115985896C>T		0					TDRD1_ENST00000369281.2_Silent_p.T918T|TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T	p.T1032T			1	2	3	2.008551	Q9BXT4	TDRD1_HUMAN		22	3556	+		Colorectal(252;0.172)|Breast(234;0.188)	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	1	1	hg19	c.3096C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.103346	1	0.170000				80	80		313	310	1		1	0		0	0	75	0		1	0	0	0	0	1	0	80	313
AFAP1L2	84632	broad.mit.edu	37	10	116060340	116060340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	ENST00000304129.4	-	14	1681	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S551I|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	551					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGTGCACTGCTGGGGCCATG	0.612																																						ENST00000304129.4	1.000000	0.220000	6.000000e-01	3.100000e-01	0.430000	0.478296	0.430000	0.400000																										0				21						c.(1651-1653)aGc>aTc		actin filament associated protein 1-like 2							99.0	91.0	94.0					10																	116060340		2203	4300	6503	SO:0001583	missense	84632	0	0					g.chr10:116060340C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1652G>T	chr10.hg19:g.116060340C>A	ENSP00000303042:p.Ser551Ile	0					AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S551I	p.S551I			1	2	3	2.008551	Q8N4X5	AF1L2_HUMAN		14	1681	-		Colorectal(252;0.175)|Breast(234;0.231)	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	0	1	hg19	c.1652G>T	CCDS31286.1	0	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122432	0.37436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.14766	2.49;2.49;2.48	5.61	0.381	0.16228	5.61	0.381	0.16228	.	0.674836	0.16406	N	0.215834	T	0.19644	0.0472	M	0.65975	2.015	0.09310	N	1	P;B;B;D;B;P;P	0.54601	0.518;0.178;0.384;0.967;0.253;0.898;0.836	B;B;B;P;B;B;B	0.53593	0.299;0.086;0.157;0.73;0.168;0.425;0.244	T	0.08868	-1.0701	10	0.48119	T	0.1	-1.7918	2.9216	0.05771	0.1239:0.5535:0.12:0.2026	.	604;117;605;73;579;551;551	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	I	551;551;578;604	ENSP00000358276:S551I;ENSP00000303042:S551I;ENSP00000444511:S604I	ENSP00000303042:S551I	S	-	2	0	0	AFAP1L2	116050330	116050330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.106000	0.10890	0.044000	0.15775	-0.123000	0.14984	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-12.438340	1	0.170000	NM_032550			12	11		338	334	0		1	0		0	0	65	0		9.990769e-01	1.958697e-01	0	0	0	22	0	12	338
AFAP1L2	84632	broad.mit.edu	37	10	116092980	116092980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000304129.4	-	3	249	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000369271.3_Splice_Site_p.A74S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	74					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522																																						ENST00000304129.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(220-222)Gcg>Tcg		actin filament associated protein 1-like 2							335.0	248.0	277.0					10																	116092980		2203	4300	6503	SO:0001630	splice_region_variant	84632	0	0					g.chr10:116092980C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.220+1G>T	chr10.hg19:g.116092980C>A		0					AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000369271.3_Splice_Site_p.A74S	p.A74S			1	2	3	2.008551	Q8N4X5	AF1L2_HUMAN		3	249	-		Colorectal(252;0.175)|Breast(234;0.231)	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Splice_Site	SNP	ENST00000304129.4	1	0	hg19	c.220G>T	CCDS31286.1	1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746237	0.30955	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.37	5.37	0.77165	5.37	5.37	0.77165	.	2.007730	0.01932	N	0.041313	T	0.44180	0.1281	N	0.25647	0.755	0.28073	N	0.932482	B;B;B;B;B	0.19583	0.018;0.01;0.026;0.037;0.022	B;B;B;B;B	0.17722	0.017;0.005;0.019;0.008;0.004	T	0.34229	-0.9837	9	.	.	.	-2.2251	16.4023	0.83644	0.0:1.0:0.0:0.0	.	74;74;74;74;74	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	74;74;73;92;74;92	ENSP00000358276:A74S;ENSP00000303042:A74S;ENSP00000444511:A74S;ENSP00000396781:A92S	.	A	-	1	0	0	AFAP1L2	116082970	116082970	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.681000	0.61663	2.673000	0.90976	0.655000	0.94253	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.469619	1	0.170000	NM_032550	Missense_Mutation		89	87		365	357	1		1	1		0	0	98	0		1	9.609680e-01	0	3	0	21	0	89	365
ABLIM1	3983	broad.mit.edu	37	10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000277895.5	-	23	2345	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	750	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				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)			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)		AAGATTTCCCGAAACACTTCA	0.453																																						ENST00000277895.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2248-2250)Cgg>Tgg		actin binding LIM protein 1							110.0	105.0	106.0					10																	116196108		2203	4300	6503	SO:0001583	missense	3983	2	121412	34				g.chr10:116196108G>A	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.2248C>T	chr10.hg19:g.116196108G>A	ENSP00000277895:p.Arg750Trp	0					ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	p.R750W	NM_002313.5	NP_002304.3	1	2	3	2.008551	O14639	ABLM1_HUMAN		23	2345	-		Colorectal(252;0.0373)|Breast(234;0.231)	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	1	1	hg19	c.2248C>T	CCDS7590.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438391	0.43326	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.31769	1.64;1.48;1.64;1.48	5.95	4.08	0.47627	5.95	4.08	0.47627	Villin headpiece (5);	0.511140	0.22513	N	0.059068	T	0.23727	0.0574	L	0.32530	0.975	0.28110	N	0.931034	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.001;0.001;0.005;0.003	T	0.14587	-1.0467	10	0.51188	T	0.08	.	10.343	0.43891	0.1527:0.0:0.8473:0.0	.	690;718;750;427	F8W8M4;A6NKJ2;O14639;O14639-5	.;.;ABLM1_HUMAN;.	W	750;690;427;373;718;690;818;674;427;674;627;818;502	ENSP00000358256:R690W;ENSP00000376679:R427W;ENSP00000433629:R690W;ENSP00000358270:R427W	ENSP00000277895:R818W	R	-	1	2	2	ABLIM1	116186098	116186098	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.808000	0.55598	0.832000	0.34804	0.491000	0.48974	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1		2	2	2	0		0	0	84		84	81	1	2.060000	-3.271765	1	0.170000				74	74		348	339	1		1	1		0	0	84	0		1	1	0	50	0	86	0	74	348
ABLIM1	3983	broad.mit.edu	37	10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000277895.5	-	17	1992	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	632					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)			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)		GGCTAACAGAGATGACCTTTC	0.463																																						ENST00000277895.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1894-1896)tCt>tTt		actin binding LIM protein 1							171.0	169.0	170.0					10																	116203826		2203	4300	6503	SO:0001583	missense	3983	0	0					g.chr10:116203826G>A	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.1895C>T	chr10.hg19:g.116203826G>A	ENSP00000277895:p.Ser632Phe	0					ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	p.S632F	NM_002313.5	NP_002304.3	1	2	3	2.008551	O14639	ABLM1_HUMAN		17	1992	-		Colorectal(252;0.0373)|Breast(234;0.231)	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	1	1	hg19	c.1895C>T	CCDS7590.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089915|2.089915	0.36855|0.36855	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.38|5.38	3.41|3.41	0.39046|0.39046	5.38|5.38	3.41|3.41	0.39046|0.39046	.|.	.|0.709815	.|0.13934	.|N	.|0.352708	T|T	0.33294|0.33294	0.0858|0.0858	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999963|0.999963	.|B;B;B;B;B;B;B;B;B	.|0.32338	.|0.072;0.072;0.365;0.004;0.013;0.323;0.25;0.044;0.137	.|B;B;B;B;B;B;B;B;B	.|0.37451	.|0.012;0.026;0.201;0.004;0.015;0.25;0.127;0.021;0.072	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.20046	.|T	.|0.44	.|.	8.4459|8.4459	0.32841|0.32841	0.0781:0.0:0.77:0.152|0.0781:0.0:0.77:0.152	.|.	.|509;234;572;600;632;309;602;556;255	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	F|F	506|632;572;309;255;600;572;700;556;309;556;509;700;384	.|ENSP00000358256:S572F;ENSP00000376679:S309F;ENSP00000433629:S572F;ENSP00000358270:S309F	.|ENSP00000277895:S700F	L|S	-|-	1|2	0|0	0|0	ABLIM1|ABLIM1	116193816|116193816	116193816|116193816	0.988000|0.988000	0.35896|0.35896	0.013000|0.013000	0.15412|0.15412	0.975000|0.975000	0.68041|0.68041	2.994000|2.994000	0.49433|0.49433	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CTC|TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000				128	126		494	478	1		1	1		0	0	122	0		1	1	0	75	0	106	0	128	494
ABLIM1	3983	broad.mit.edu	37	10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	21					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)			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)		GATGAGGTGACTTTGCTTTTC	0.527																																						ENST00000277895.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(61-63)Gtc>Ttc		actin binding LIM protein 1							115.0	117.0	116.0					10																	116417899		2203	4300	6503	SO:0001583	missense	3983	0	0					g.chr10:116417899C>A	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.61G>T	chr10.hg19:g.116417899C>A	ENSP00000277895:p.Val21Phe	0					ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000369252.4_Intron	p.V21F	NM_002313.5	NP_002304.3	1	2	3	2.008551	O14639	ABLM1_HUMAN		1	158	-		Colorectal(252;0.0373)|Breast(234;0.231)	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	1	1	hg19	c.61G>T	CCDS7590.1	1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130659	0.37630	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.30981	1.51	5.77	3.69	0.42338	5.77	3.69	0.42338	.	1.498440	0.04411	N	0.366045	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999999	B	0.26400	0.148	B	0.21360	0.034	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.7105	0.34380	0.0:0.7413:0.1546:0.1041	.	21	O14639	ABLM1_HUMAN	F	21	ENSP00000277895:V21F	ENSP00000277895:V21F	V	-	1	0	0	ABLIM1	116407889	116407889	0.028000	0.19301	0.282000	0.24776	0.833000	0.47200	1.322000	0.33689	1.443000	0.47586	0.650000	0.86243	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000				101	99		472	470	1		1			0	0	116	0		1	0	0	0	0	0	0	101	472
FAM160B1	57700	broad.mit.edu	37	10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338																																						ENST00000369248.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(478-480)gCg>gTg		family with sequence similarity 160, member B1							196.0	209.0	205.0					10																	116595962		2203	4300	6503	SO:0001583	missense	57700	2	121412	38				g.chr10:116595962C>T	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.479C>T	chr10.hg19:g.116595962C>T	ENSP00000358251:p.Ala160Val	0					FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	p.A160V	NM_020940.3	NP_065991.3	1	2	3	2.008551	Q5W0V3	F16B1_HUMAN		5	814	+			Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	1	1	hg19	c.479C>T	CCDS31290.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.560340	0.96527	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.709;0.999	B;P	0.60789	0.079;0.879	T	0.27739	-1.0065	10	0.13470	T	0.59	-20.6102	18.7711	0.91892	0.0:1.0:0.0:0.0	.	160;160	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	160	ENSP00000358251:A160V;ENSP00000358253:A160V	ENSP00000358251:A160V	A	+	2	0	0	FAM160B1	116585952	116585952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.419000	0.82065	0.585000	0.79938	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	1	0	1		2	2	2	0		0	0	271		271	270	1	2.060000	-20.000000	1	0.170000	XM_049351			212	206		955	940	1		1	1		0	0	271	0		1	9.992455e-01	0	17	0	32	0	212	955
TRUB1	142940	broad.mit.edu	37	10	116710908	116710908	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	147					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGGGTCCAAGGTAAGAATAC	0.303																																						ENST00000298746.3	1.000000	0.600000	1	7.200000e-01	0.860000	0.856780	0.860000	1.000000																										0				12						c.(439-441)aaG>aaA		TruB pseudouridine (psi) synthase family member 1							184.0	187.0	186.0					10																	116710908		2203	4300	6503	SO:0001630	splice_region_variant	142940	1	121410	30				g.chr10:116710908G>A	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.441+1G>A	chr10.hg19:g.116710908G>A		0					TRUB1_ENST00000485065.1_3'UTR	p.K147K	NM_139169.4	NP_631908.1	1	2	3	2.008551	Q8WWH5	TRUB1_HUMAN		3	502	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	B2R716|Q53ES2	Splice_Site	SNP	ENST00000298746.3	1	0	hg19	c.441G>A	CCDS7591.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.017763	1	0.170000	NM_139169	Silent		34	34		444	434	0		1	0		0	0	93	0		1	9.583887e-01	0	0	0	70	0	34	444
ATRNL1	26033	broad.mit.edu	37	10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	340					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)			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)		AATTTAGAAAGCAGTATATGG	0.323																																						ENST00000355044.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999925	0.990000	1.000000																										0				95						c.(1018-1020)aGc>aTc		attractin-like 1							76.0	77.0	77.0					10																	116925332		2203	4298	6501	SO:0001583	missense	26033	0	0					g.chr10:116925332G>T	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.1019G>T	chr10.hg19:g.116925332G>T	ENSP00000347152:p.Ser340Ile	0					ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	p.S340I	NM_207303.2	NP_997186.1	1	2	3	2.008551	Q5VV63	ATRN1_HUMAN		7	1145	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	1	1	hg19	c.1019G>T	CCDS7592.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255337	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.68331	-0.32	5.65	4.69	0.59074	5.65	4.69	0.59074	.	0.036729	0.85682	D	0.000000	T	0.77370	0.4120	M	0.65975	2.015	0.80722	D	1	P;D	0.61080	0.933;0.989	B;P	0.61201	0.441;0.885	T	0.79502	-0.1777	10	0.66056	D	0.02	-9.9627	13.3729	0.60723	0.0818:0.0:0.9182:0.0	.	340;340	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	340	ENSP00000347152:S340I	ENSP00000347152:S340I	S	+	2	0	0	ATRNL1	116915322	116915322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.253000	0.44018	0.650000	0.86243	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	XM_049349			31	30		180	175	1		1	0		0	0	54	0		1	1.105554e-01	0	0	0	4	0	31	180
ATRNL1	26033	broad.mit.edu	37	10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	578					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)			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)		TCTTCATAGAGATGTCAACAG	0.313																																						ENST00000355044.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(1732-1734)Gat>Tat		attractin-like 1							114.0	118.0	117.0					10																	117024714		2203	4297	6500	SO:0001583	missense	26033	0	0					g.chr10:117024714G>T	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.1732G>T	chr10.hg19:g.117024714G>T	ENSP00000347152:p.Asp578Tyr	0						p.D578Y	NM_207303.2	NP_997186.1	1	2	3	2.008551	Q5VV63	ATRN1_HUMAN		11	1858	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	1	1	hg19	c.1732G>T	CCDS7592.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123123	0.77436	.	.	ENSG00000107518	ENST00000355044	T	0.15139	2.45	4.69	4.69	0.59074	4.69	4.69	0.59074	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57528	-0.7796	10	0.72032	D	0.01	-26.3301	17.974	0.89121	0.0:0.0:1.0:0.0	.	578	Q5VV63	ATRN1_HUMAN	Y	578	ENSP00000347152:D578Y	ENSP00000347152:D578Y	D	+	1	0	0	ATRNL1	117014704	117014704	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.198000	0.94994	2.307000	0.77673	0.561000	0.74099	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	XM_049349			81	77		318	310	1		1	0		0	0	110	0		1	0	0	0	0	1	0	81	318
ATRNL1	26033	broad.mit.edu	37	10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	602					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)			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)		TTTTCTAGTGTACTCCTTAAT	0.333																																						ENST00000355044.3	1.000000	0.230000	5.900000e-01	3.100000e-01	0.420000	0.472637	0.420000	0.400000																										0				95						c.(1804-1806)gTa>gCa		attractin-like 1							76.0	83.0	80.0					10																	117026306		2203	4300	6503	SO:0001583	missense	26033	0	0					g.chr10:117026306T>C	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.1805T>C	chr10.hg19:g.117026306T>C	ENSP00000347152:p.Val602Ala	0						p.V602A	NM_207303.2	NP_997186.1	1	2	3	2.008551	Q5VV63	ATRN1_HUMAN		12	1931	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	1	1	hg19	c.1805T>C	CCDS7592.1	0	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975012	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.29397	1.57	5.77	5.77	0.91146	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.053328	0.64402	D	0.000001	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	B	0.26975	0.165	B	0.28385	0.089	T	0.05632	-1.0873	10	0.16896	T	0.51	-20.4802	16.0865	0.81056	0.0:0.0:0.0:1.0	.	602	Q5VV63	ATRN1_HUMAN	A	602	ENSP00000347152:V602A	ENSP00000347152:V602A	V	+	2	0	0	ATRNL1	117016296	117016296	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.782000	0.68973	2.194000	0.70268	0.377000	0.23210	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-13.350430	1	0.170000	XM_049349			13	13		370	365	0		1	0		0	0	101	0		9.995120e-01	0	0	0	0	1	0	13	370
WDR37	22884	broad.mit.edu	37	10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502																																						ENST00000358220.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(1432-1434)Cgg>Tgg		WD repeat domain 37							126.0	99.0	108.0					10																	1175231		2203	4300	6503	SO:0001583	missense	22884	0	0					g.chr10:1175231C>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1432C>T	chr10.hg19:g.1175231C>T	ENSP00000350954:p.Arg478Trp	0					WDR37_ENST00000263150.4_Missense_Mutation_p.R478W	p.R478W			1	2	3	2.000167	Q9Y2I8	WDR37_HUMAN		14	1576	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	1	1	hg19	c.1432C>T	CCDS7057.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265075	0.80358	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01379	4.96;4.96	5.72	2.29	0.28610	5.72	2.29	0.28610	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	T	0.09598	0.0236	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.02294	-1.1181	10	0.87932	D	0	.	16.0685	0.80907	0.2373:0.7627:0.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	W	478	ENSP00000350954:R478W;ENSP00000263150:R478W	ENSP00000263150:R478W	R	+	1	2	2	WDR37	1165231	1165231	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.468000	0.53086	0.482000	0.27582	0.561000	0.74099	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.983428	1	0.170000	NM_014023			46	44		245	243	1		1	1		0	0	46	0		1	9.986806e-01	0	12	0	44	0	46	245
ATRNL1	26033	broad.mit.edu	37	10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1032	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		AACAGTGTAAAAATCTCACCA	0.368																																						ENST00000355044.3	1.000000	0.180000	5.500000e-01	2.600000e-01	0.370000	0.432964	0.370000	0.350000																										0				95						c.(3094-3096)aaA>aaC		attractin-like 1							134.0	117.0	123.0					10																	117093850		2203	4300	6503	SO:0001583	missense	26033	0	0					g.chr10:117093850A>C	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.3096A>C	chr10.hg19:g.117093850A>C	ENSP00000347152:p.Lys1032Asn	0					ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	p.K1032N	NM_207303.2	NP_997186.1	1	2	3	2.008551	Q5VV63	ATRN1_HUMAN		19	3222	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	1	1	hg19	c.3096A>C	CCDS7592.1	0	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960285	0.34565	.	.	ENSG00000107518	ENST00000355044	T	0.64260	-0.09	5.45	4.32	0.51571	5.45	4.32	0.51571	EGF-like, laminin (3);	0.047709	0.85682	D	0.000000	T	0.50120	0.1597	L	0.47078	1.49	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.38929	-0.9638	10	0.21540	T	0.41	-18.1281	8.1716	0.31258	0.8428:0.0:0.1572:0.0	.	1032	Q5VV63	ATRN1_HUMAN	N	1032	ENSP00000347152:K1032N	ENSP00000347152:K1032N	K	+	3	2	2	ATRNL1	117083840	117083840	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	1.014000	0.39417	0.482000	0.46254	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-10.338770	1	0.170000	XM_049349			9	9		294	292	0		1	0		0	0	65	0		9.942310e-01	1.170935e-03	0	0	0	2	0	9	294
GFRA1	2674	broad.mit.edu	37	10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000355422.6	-	7	1326	c.776G>A	c.(775-777)cGc>cAc	p.R259H	GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	259					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)			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)		ATCCGCAAGGCGAGATCTACA	0.473																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000355422.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				26						c.(775-777)cGc>cAc		GDNF family receptor alpha 1							34.0	37.0	36.0					10																	117856270		2203	4300	6503	SO:0001583	missense	2674	0	0					g.chr10:117856270C>T	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.776G>A	chr10.hg19:g.117856270C>T	ENSP00000347591:p.Arg259His	0					GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H	p.R259H	NM_005264.4	NP_005255.1	1	2	3	2.008551	P56159	GFRA1_HUMAN		7	1326	-		Lung NSC(174;0.21)	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	1	1	hg19	c.776G>A	CCDS44481.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.413916	0.96072	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.048834	0.85682	D	0.000000	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.941	T	0.78773	-0.2073	10	0.52906	T	0.07	-33.882	18.5344	0.91004	0.0:1.0:0.0:0.0	.	259;254	P56159;P56159-2	GFRA1_HUMAN;.	H	259;254;254;138;254	ENSP00000358239:R254H;ENSP00000442179:R138H	ENSP00000347591:R254H	R	-	2	0	0	GFRA1	117846260	117846260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.826000	0.97356	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_145793			17	17		69	68	1		1	0		0	0	27	0		9.999805e-01	1.115935e-01	0	0	0	3	0	17	69
ECHDC3	79746	broad.mit.edu	37	10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	rs144927894	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	136						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000379215.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(406-408)cGg>cAg		enoyl CoA hydratase domain containing 3		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	75.0	54.0	61.0		407	1.2	1.0	10	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ECHDC3	NM_024693.4	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	136/304	11797423	4,13002	2203	4300	6503	SO:0001583	missense	79746	12	121412	41				g.chr10:11797423G>A	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.407G>A	chr10.hg19:g.11797423G>A	ENSP00000368517:p.Arg136Gln	0					ECHDC3_ENST00000496136.1_3'UTR	p.R136Q	NM_024693.4	NP_078969	1	2	3	2.000167	Q96DC8	ECHD3_HUMAN		4	618	+			Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	1	1	hg19	c.407G>A	CCDS7084.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.169	-0.170462	0.06461	9.08E-4	0.0	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	1.19	0.21007	5.31	1.19	0.21007	Crotonase, core (1);	0.119864	0.64402	N	0.000013	T	0.34454	0.0898	N	0.05554	-0.025	0.45648	D	0.998573	B	0.12013	0.005	B	0.11329	0.006	T	0.07462	-1.0771	10	0.10902	T	0.67	.	9.3626	0.38206	0.8717:0.0:0.1283:0.0	.	136	Q96DC8	ECHD3_HUMAN	Q	136;189;63	ENSP00000368517:R136Q;ENSP00000405584:R189Q;ENSP00000398429:R63Q	ENSP00000368517:R136Q	R	+	2	0	0	ECHDC3	11837429	11837429	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	3.431000	0.52814	-0.001000	0.14495	-0.948000	0.02665	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.173216	1	0.170000	NM_024693			44	44		194	186	1		1	0		0	0	48	0		1	9.983600e-01	0	0	0	46	0	44	194
ECHDC3	79746	broad.mit.edu	37	10	11805264	11805264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	211						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637																																						ENST00000379215.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(631-633)gcC>gcT		enoyl CoA hydratase domain containing 3							73.0	59.0	64.0					10																	11805264		2203	4300	6503	SO:0001819	synonymous_variant	79746	0	0					g.chr10:11805264C>T	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.633C>T	chr10.hg19:g.11805264C>T		0					ECHDC3_ENST00000496136.1_3'UTR	p.A211A	NM_024693.4	NP_078969	1	2	3	2.000167	Q96DC8	ECHD3_HUMAN		5	844	+			Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	1	1	hg19	c.633C>T	CCDS7084.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_024693			35	35		151	149	1		1	0		0	0	33	0		1	9.575187e-01	0	0	0	25	0	35	151
GFRA1	2674	broad.mit.edu	37	10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T	rs376230694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000355422.6	-	6	1119	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					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)			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)		GTGGCACTTGCGGCGGTTGCA	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000355422.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(568-570)cGc>cAc		GDNF family receptor alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	62.0	66.0		554,569,554	5.8	1.0	10		66	0,8600		0,0,4300	no	missense,missense,missense	GFRA1	NM_001145453.1,NM_005264.4,NM_145793.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	185/461,190/466,185/461	117884933	1,13005	2203	4300	6503	SO:0001583	missense	2674	2	121412	37				g.chr10:117884933C>T	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.569G>A	chr10.hg19:g.117884933C>T	ENSP00000347591:p.Arg190His	0					GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H	p.R190H	NM_005264.4	NP_005255.1	1	2	3	2.008551	P56159	GFRA1_HUMAN		6	1119	-		Lung NSC(174;0.21)	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	1	1	hg19	c.569G>A	CCDS44481.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.273572	0.95459	2.27E-4	0.0	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.965	T	0.71411	-0.4601	10	0.36615	T	0.2	-33.0593	20.1775	0.98187	0.0:1.0:0.0:0.0	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	H	190;185;185;69;185	ENSP00000358239:R185H;ENSP00000442179:R69H	ENSP00000347591:R185H	R	-	2	0	0	GFRA1	117874923	117874923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.851000	0.62896	2.771000	0.95319	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.908424	1	0.170000	NM_145793			55	53		184	182	1		1	0		0	0	52	0		1	1.370352e-01	0	0	0	3	0	55	184
PNLIPRP3	119548	broad.mit.edu	37	10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	377	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			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)		TTTCTTCGTGTAGGCGGGGCA	0.478																																						ENST00000369230.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1129-1131)gTa>gCa		pancreatic lipase-related protein 3							160.0	168.0	165.0					10																	118231349		2203	4300	6503	SO:0001583	missense	119548	0	0					g.chr10:118231349T>C	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.1130T>C	chr10.hg19:g.118231349T>C	ENSP00000358232:p.Val377Ala	0						p.V377A	NM_001011709.2	NP_001011709.2	1	2	3	2.008551	Q17RR3	LIPR3_HUMAN		10	1276	+				Missense_Mutation	SNP	ENST00000369230.3	1	1	hg19	c.1130T>C	CCDS31292.1	1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970902	0.53614	.	.	ENSG00000203837	ENST00000369230	T	0.72282	-0.64	4.18	4.18	0.49190	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.073260	0.07498	N	0.906784	T	0.70254	0.3203	L	0.51422	1.61	0.09310	N	1	B	0.33549	0.417	B	0.38296	0.27	T	0.62923	-0.6751	10	0.87932	D	0	.	11.2943	0.49269	0.0:0.0:0.0:1.0	.	377	Q17RR3	LIPR3_HUMAN	A	377	ENSP00000358232:V377A	ENSP00000358232:V377A	V	+	2	0	0	PNLIPRP3	118221339	118221339	0.028000	0.19301	0.038000	0.18304	0.022000	0.10575	3.283000	0.51701	1.848000	0.53677	0.482000	0.46254	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000	XM_058404			89	91		502	491	1		1	0		0	0	137	0		1	6.256294e-02	0	0	0	3	0	89	502
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	103					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433																																						ENST00000369221.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(307-309)Ctg>Atg		pancreatic lipase	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)						132.0	128.0	129.0					10																	118307977		2203	4300	6503	SO:0001583	missense	5406	0	0					g.chr10:118307977C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.307C>A	chr10.hg19:g.118307977C>A	ENSP00000358223:p.Leu103Met	0					PNLIP_ENST00000470562.1_3'UTR	p.L103M	NM_000936.2	NP_000927.1	1	2	3	2.008551	P16233	LIPP_HUMAN		4	335	+			Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	1	1	hg19	c.307C>A	CCDS7594.1	1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072303	0.36566	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.39	3.51	0.40186	5.39	3.51	0.40186	Lipase, N-terminal (1);	0.555568	0.16090	N	0.230103	D	0.91663	0.7365	L	0.46157	1.445	0.40797	D	0.983309	D	0.76494	0.999	D	0.75484	0.986	D	0.88885	0.3342	10	0.33940	T	0.23	.	7.0787	0.25219	0.1402:0.7053:0.0:0.1544	.	103	P16233	LIPP_HUMAN	M	103	ENSP00000358223:L103M	ENSP00000358223:L103M	L	+	1	2	2	PNLIP	118297967	118297967	0.393000	0.25237	0.981000	0.43875	0.485000	0.33311	-0.281000	0.08456	1.517000	0.48917	0.585000	0.79938	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_000936			121	117		558	550	1		1	0		0	0	112	0		1	1	0	0	0	1457	0	121	558
PNLIPRP2	5408	broad.mit.edu	37	10	118380475	118380475	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118380475G>A	ENST00000298771.7	+	0	11				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_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)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGAGTGGAAGCTCTGGTGCA	0.597																																						ENST00000298771.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999872	0.990000	1.000000																										0				16								pancreatic lipase-related protein 2							29.0	34.0	32.0					10																	118380475		1942	4140	6082			5408	0	0					g.chr10:118380475G>A	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			chr10.hg19:g.118380475G>A		0					PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA		NR_103727.1		1	2	3	2.008551	P54317	LIPR2_HUMAN		0	11	+			A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_005396			15	15		56	55	0		1	0		0	0	25	0		9.999250e-01	5.035172e-02	0	0	0	2	0	15	56
PNLIPRP2	5408	broad.mit.edu	37	10	118385552	118385552	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000298771.7	+	0	325				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_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)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAGACAAGGCGGAGGACAGCT	0.547																																						ENST00000298771.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				16								pancreatic lipase-related protein 2							61.0	65.0	64.0					10																	118385552		2156	4284	6440			5408	5	121246	39				g.chr10:118385552G>A	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			chr10.hg19:g.118385552G>A		0					PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA		NR_103727.1		1	2	3	2.008551	P54317	LIPR2_HUMAN		0	325	+			A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	1	0	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.263121	1	0.170000	NM_005396			25	24		135	132	1		1	0		0	0	23	0		9.999999e-01	9.581006e-01	0	0	0	31	0	25	135
PNLIPRP2	5408	broad.mit.edu	37	10	118394364	118394364	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000298771.7	+	0	855				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_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)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTGGTGGCTTTGTGTCTTGC	0.468																																						ENST00000298771.7	1.000000	0.260000	8.000000e-01	3.800000e-01	0.540000	0.587667	0.540000	0.500000																										0				16								pancreatic lipase-related protein 2							96.0	95.0	95.0					10																	118394364		1931	4173	6104			5408	0	0					g.chr10:118394364T>G	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			chr10.hg19:g.118394364T>G		0					PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA		NR_103727.1		1	2	3	2.008551	P54317	LIPR2_HUMAN		0	855	+			A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	0	1	hg19			0	.	.	.	.	.	.	.	.	.	.	T	8.513	0.866972	0.17250	.	.	ENSG00000165862	ENST00000537242	D	0.91740	-2.9	5.29	2.92	0.33932	5.29	2.92	0.33932	Lipase, N-terminal (1);	0.224285	0.30374	U	0.009767	D	0.94420	0.8205	.	.	.	0.24291	N	0.995166	D	0.89917	1.0	D	0.77004	0.989	D	0.87305	0.2308	9	0.72032	D	0.01	.	6.9395	0.24484	0.1331:0.0745:0.0:0.7925	.	277	P54317	LIPR2_HUMAN	C	277	ENSP00000446346:F277C	ENSP00000446346:F277C	F	+	2	0	0	PNLIPRP2	118384354	118384354	0.931000	0.31567	0.208000	0.23602	0.002000	0.02628	1.212000	0.32394	0.400000	0.25396	-0.561000	0.04177	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-4.316591	1	0.170000	NM_005396			9	9		199	197	0		1	0		0	0	40	0		9.942741e-01	3.156758e-01	0	0	0	24	0	9	199
PNLIPRP2	5408	broad.mit.edu	37	10	118404618	118404618	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118404618G>A	ENST00000298771.7	+	0	1445				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_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)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAAACGTGGTGCAGCTATTGC	0.398																																						ENST00000298771.7	1.000000	0.840000	1	9.900000e-01	0.990000	0.990794	0.990000	1.000000																										0				16								pancreatic lipase-related protein 2							74.0	76.0	75.0					10																	118404618		1885	4117	6002			5408	0	0					g.chr10:118404618G>A	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			chr10.hg19:g.118404618G>A		0					PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA		NR_103727.1		1	2	3	2.008551	P54317	LIPR2_HUMAN		0	1445	+			A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.745510	1	0.170000	NM_005396			12	12		82	79	0		1	0		0	0	26	0		9.991797e-01	5.677927e-01	0	0	0	14	0	12	82
HSPA12A	259217	broad.mit.edu	37	10	118434865	118434865	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	485						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637																																						ENST00000369209.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1453-1455)gcC>gcT		heat shock 70kDa protein 12A							14.0	16.0	16.0					10																	118434865		1916	4110	6026	SO:0001819	synonymous_variant	259217	1	120780	24				g.chr10:118434865G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1455C>T	chr10.hg19:g.118434865G>A		0					RP11-498B4.5_ENST00000433600.1_RNA	p.A485A	NM_025015.2	NP_079291.2	1	2	3	2.008551	O43301	HS12A_HUMAN		12	1559	-				Silent	SNP	ENST00000369209.3	1	1	hg19	c.1455C>T	CCDS41569.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_025015			30	30		104	101	1		1	0		0	0	25	0		1	6.887019e-01	0	0	0	10	0	30	104
HSPA12A	259217	broad.mit.edu	37	10	118458251	118458251	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507																																						ENST00000369209.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.e5-1		heat shock 70kDa protein 12A							115.0	109.0	111.0					10																	118458251		1932	4141	6073	SO:0001630	splice_region_variant	259217	0	0					g.chr10:118458251C>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.442-1G>T	chr10.hg19:g.118458251C>A		0							NM_025015.2	NP_079291.2	1	2	3	2.008551	O43301	HS12A_HUMAN		5	546	-				Splice_Site	SNP	ENST00000369209.3	1	1	hg19		CCDS41569.1	1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844608	0.71488	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	HSPA12A	118448241	118448241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.803000	0.85983	2.652000	0.90054	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-3.255941	1	0.170000	NM_025015	Intron		103	103		423	417	1		1			0	0	94	0		1	0	0	0	0	0	0	103	423
KIAA1598	57698	broad.mit.edu	37	10	118645867	118645867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118645867G>A	ENST00000355371.4	-	17	2381	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_3'UTR|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392903.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	628					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGCAGTTGGAGCTGTCTGTCT	0.413																																						ENST00000355371.4	1.000000	0.620000	1	9.900000e-01	0.990000	0.969813	0.990000	1.000000																										0				10						c.(1882-1884)agC>agT		KIAA1598							278.0	206.0	228.0					10																	118645867		692	1591	2283	SO:0001819	synonymous_variant	57698	0	0					g.chr10:118645867G>A	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.1884C>T	chr10.hg19:g.118645867G>A		0					KIAA1598_ENST00000260777.10_3'UTR|KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392903.2_Intron	p.S628S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	1	2	3	2.008551	A0MZ66	SHOT1_HUMAN		17	2381	-			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	0	1	hg19	c.1884C>T	CCDS44482.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-10.622480	1	0.170000	NM_018330			4	3		21	21	0		1	1		0	0	8	0		8.861630e-01	9.997334e-01	0	19	0	131	0	4	21
KIAA1598	57698	broad.mit.edu	37	10	118671334	118671334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000355371.4	-	14	1823	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000392903.2_Silent_p.C442C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	442					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299																																						ENST00000355371.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1324-1326)tgC>tgT		KIAA1598							75.0	76.0	76.0					10																	118671334		2203	4298	6501	SO:0001819	synonymous_variant	57698	5	121396	35				g.chr10:118671334G>A	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.1326C>T	chr10.hg19:g.118671334G>A		0					KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.C442C	p.C442C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	1	2	3	2.008551	A0MZ66	SHOT1_HUMAN		14	1823	-			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	1	1	hg19	c.1326C>T	CCDS44482.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_018330			51	50		240	232	1		1	1		0	0	99	0		1	9.999974e-01	0	16	0	77	0	51	240
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000355371.4	-	2	563	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408																																						ENST00000355371.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				10						c.(64-66)ggC>ggT		KIAA1598							115.0	109.0	111.0					10																	118738812		2203	4300	6503	SO:0001819	synonymous_variant	57698	2	121410	37				g.chr10:118738812G>A	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.66C>T	chr10.hg19:g.118738812G>A		0					KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G	p.G22G	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	1	2	3	2.008551	A0MZ66	SHOT1_HUMAN		2	563	-			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	1	1	hg19	c.66C>T	CCDS44482.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-18.528800	1	0.170000	NM_018330			41	39		258	249	1		1	1		0	0	84	0		1	9.999594e-01	0	17	0	81	0	41	258
KIAA1598	57698	broad.mit.edu	37	10	118738814	118738814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000355371.4	-	2	561	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame|KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398																																						ENST00000355371.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				10						c.(64-66)Ggc>Tgc		KIAA1598							114.0	109.0	110.0					10																	118738814		2203	4300	6503	SO:0001583	missense	57698	0	0					g.chr10:118738814C>A	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.64G>T	chr10.hg19:g.118738814C>A	ENSP00000347532:p.Gly22Cys	0					KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame|KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C	p.G22C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	1	2	3	2.008551	A0MZ66	SHOT1_HUMAN		2	561	-			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	1	0	hg19	c.64G>T	CCDS44482.1	1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836339	0.71373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.291016	0.34362	N	0.004035	D	0.92721	0.7686	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93178	0.6572	10	0.59425	D	0.04	-10.5094	16.1594	0.81686	0.0:1.0:0.0:0.0	.	22;22	A0MZ66;A0MZ66-2	SHOT1_HUMAN;.	C	22	ENSP00000376636:G22C;ENSP00000260777:G22C;ENSP00000347532:G22C	ENSP00000260777:G22C	G	-	1	0	0	KIAA1598	118728804	118728804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.029000	0.57253	2.885000	0.99019	0.655000	0.94253	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.143366	1	0.170000	NM_018330			39	37		255	246	1		1	1		0	0	85	0		1	9.999247e-01	0	17	0	79	0	39	255
VAX1	11023	broad.mit.edu	37	10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000369206.5	-	2	327	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000277905.2_Nonsense_Mutation_p.E110*	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	110					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652																																						ENST00000369206.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(328-330)Gag>Tag		ventral anterior homeobox 1							43.0	41.0	42.0					10																	118896084		2202	4300	6502	SO:0001587	stop_gained	11023	0	0					g.chr10:118896084C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.328G>T	chr10.hg19:g.118896084C>A	ENSP00000358207:p.Glu110*	0					VAX1_ENST00000277905.2_Nonsense_Mutation_p.E110*	p.E110*	NM_001112704.1	NP_001106175.1	1	2	3	2.008551	Q5SQQ9	VAX1_HUMAN		2	327	-			B1AVW5|Q6ZSX0	Nonsense_Mutation	SNP	ENST00000369206.5	0	1	hg19	c.328G>T	CCDS44483.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908892	0.92107	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	.	.	.	4.03	3.08	0.35506	4.03	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.2658	13.3785	0.60754	0.0:0.8404:0.1596:0.0	.	.	.	.	X	110	.	ENSP00000277905:E110X	E	-	1	0	0	VAX1	118886074	118886074	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.529000	0.67135	0.845000	0.35118	0.455000	0.32223	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	XM_301242			67	66		254	242	1		1			0	0	53	0		1	0	0	0	0	0	0	67	254
KCNK18	338567	broad.mit.edu	37	10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	83					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)			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)		AAAACAGGATCTCCAGGGGCA	0.517																																						ENST00000334549.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(247-249)Ctc>Ttc		potassium channel, subfamily K, member 18							174.0	167.0	170.0					10																	118960693		2203	4300	6503	SO:0001583	missense	338567	0	0					g.chr10:118960693C>T	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.247C>T	chr10.hg19:g.118960693C>T	ENSP00000334650:p.Leu83Phe	0						p.L83F	NM_181840.1	NP_862823.1	1	2	3	2.008551	Q7Z418	KCNKI_HUMAN		2	247	+		Colorectal(252;0.19)	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	1	1	hg19	c.247C>T	CCDS7598.1	1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000186795	ENST00000334549	T	0.16324	2.35	4.34	-2.37	0.06643	4.34	-2.37	0.06643	.	0.703620	0.13804	N	0.361593	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	P	0.45283	0.855	B	0.35859	0.212	T	0.40098	-0.9581	10	0.19590	T	0.45	.	8.3945	0.32548	0.0971:0.318:0.5131:0.0718	.	83	Q7Z418	KCNKI_HUMAN	F	83	ENSP00000334650:L83F	ENSP00000334650:L83F	L	+	1	0	0	KCNK18	118950683	118950683	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.261000	0.08694	-0.423000	0.07394	-0.176000	0.13171	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	1	0	1		2	2	2	0		0	0	202		202	202	1	2.060000	-20.000000	1	0.170000	NM_181840			173	169		787	775	1		1			0	0	202	0		1	0	0	0	0	0	0	173	787
SLC18A2	6571	broad.mit.edu	37	10	119003516	119003516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	52					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)			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)	ACAGCATTAAGCATGAGAAGA	0.488																																						ENST00000298472.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(154-156)aaG>aaA		solute carrier family 18 (vesicular monoamine transporter), member 2	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)						66.0	58.0	61.0					10																	119003516		2203	4300	6503	SO:0001819	synonymous_variant	6571	0	0					g.chr10:119003516G>A	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.156G>A	chr10.hg19:g.119003516G>A		0					RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	p.K52K	NM_003054.4	NP_003045.2	1	2	3	2.008551	Q05940	VMAT2_HUMAN		3	299	+		Colorectal(252;0.19)	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	1	1	hg19	c.156G>A	CCDS7599.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-19.400150	1	0.170000	NM_003054			30	27		124	120	1		1	0		0	0	32	0		1	6.128739e-01	0	0	0	10	0	30	124
SLC18A2	6571	broad.mit.edu	37	10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	150					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)			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)	CCTTTCATAGGACTACTGACC	0.448																																						ENST00000298472.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				29						c.(448-450)gGa>gAa		solute carrier family 18 (vesicular monoamine transporter), member 2	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)						52.0	50.0	50.0					10																	119003809		2203	4300	6503	SO:0001583	missense	6571	0	0					g.chr10:119003809G>A	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.449G>A	chr10.hg19:g.119003809G>A	ENSP00000298472:p.Gly150Glu	0					RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	p.G150E	NM_003054.4	NP_003045.2	1	2	3	2.008551	Q05940	VMAT2_HUMAN		3	592	+		Colorectal(252;0.19)	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	1	1	hg19	c.449G>A	CCDS7599.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815283	0.90790	.	.	ENSG00000165646	ENST00000298472	T	0.73469	-0.75	5.71	5.71	0.89125	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91690	0.5365	10	0.87932	D	0	-11.3411	18.0482	0.89340	0.0:0.0:1.0:0.0	.	150	Q05940	VMAT2_HUMAN	E	150	ENSP00000298472:G150E	ENSP00000298472:G150E	G	+	2	0	0	SLC18A2	118993799	118993799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_003054			23	21		104	104	1		1	0		0	0	29	0		9.999997e-01	7.128623e-01	0	0	0	13	0	23	104
PDZD8	118987	broad.mit.edu	37	10	119134343	119134343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119134343C>A	ENST00000334464.5	-	1	635	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	132					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)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCGTCTTGGTCTGCAGCAGCT	0.662																																						ENST00000334464.5	1.000000	0.120000	4.200000e-01	1.900000e-01	0.270000	0.340731	0.270000	0.250000																										0				38						c.(394-396)caG>caT		PDZ domain containing 8							29.0	37.0	34.0					10																	119134343		2200	4296	6496	SO:0001583	missense	118987	0	0					g.chr10:119134343C>A	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.396G>T	chr10.hg19:g.119134343C>A	ENSP00000334642:p.Gln132His	0						p.Q132H	NM_173791.3	NP_776152.1	1	2	3	2.008551	Q8NEN9	PDZD8_HUMAN		1	635	-		Colorectal(252;0.19)	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	0	1	hg19	c.396G>T	CCDS7600.1	0	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799060	0.90538	.	.	ENSG00000165650	ENST00000334464	D	0.86366	-2.11	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.067759	0.64402	D	0.000010	D	0.92071	0.7487	L	0.57536	1.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.92922	0.6356	10	0.66056	D	0.02	-9.667	17.3371	0.87285	0.0:1.0:0.0:0.0	.	132	Q8NEN9	PDZD8_HUMAN	H	132	ENSP00000334642:Q132H	ENSP00000334642:Q132H	Q	-	3	2	2	PDZD8	119124333	119124333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.110000	0.57831	2.299000	0.77371	0.644000	0.83932	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	0	0	1		2	2	2	0		0	0	71		71	67	1	2.060000	-7.777556	1	0.170000	NM_173791			8	8		363	355	0		1	1		0	0	71	0		9.885800e-01	4.597260e-01	0	5	0	61	0	8	363
EMX2	2018	broad.mit.edu	37	10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2OS_ENST00000440007.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	62					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)			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)		gccggTAGGGGCGTCTACTCC	0.721																																						ENST00000553456.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(184-186)gGc>gAc		empty spiracles homeobox 2							6.0	8.0	7.0					10																	119302963		2097	4114	6211	SO:0001583	missense	2018	0	0					g.chr10:119302963G>A	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.185G>A	chr10.hg19:g.119302963G>A	ENSP00000450962:p.Gly62Asp	0					EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA	p.G62D	NM_004098.3	NP_004089.1	1	2	3	2.008551	Q04743	EMX2_HUMAN		1	1009	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	1	1	hg19	c.185G>A	CCDS7601.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826475	0.32329	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91843	-2.92	5.91	5.01	0.66863	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	N	0.08118	0	0.80722	D	1	B;B	0.33413	0.049;0.411	B;B	0.26517	0.04;0.07	T	0.81788	-0.0772	10	0.39692	T	0.17	-16.1459	15.1126	0.72372	0.0676:0.0:0.9324:0.0	.	62;62	G3V305;Q04743	.;EMX2_HUMAN	D	62	ENSP00000450962:G62D	ENSP00000358202:G62D	G	+	2	0	0	AC005871.1;EMX2	119292953	119292953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.389000	0.66255	1.506000	0.48736	0.643000	0.83706	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_004098			38	38		130	126	0		1			0	0	13	0		1	0	0	0	0	0	0	38	130
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	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)			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)				TTAAGTCCACCGCCTTTAATC	0.333																																						ENST00000356352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3298-3300)Ggt>Agt		UPF2 regulator of nonsense transcripts homolog (yeast)							116.0	120.0	119.0					10																	11984744		2203	4300	6503	SO:0001583	missense	26019	1	121410	25				g.chr10:11984744C>T	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.3298G>A	chr10.hg19:g.11984744C>T	ENSP00000348708:p.Gly1100Ser	0					UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S|UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S	p.G1100S			1	2	3	2.000167	Q9HAU5	RENT2_HUMAN		17	3771	-		Renal(717;0.228)	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	1	1	hg19	c.3298G>A	CCDS7086.1	1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710862	0.68730	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.47262	-0.9131	10	0.09338	T	0.73	.	18.8593	0.92266	0.0:1.0:0.0:0.0	.	1100	Q9HAU5	RENT2_HUMAN	S	1100;1100;1100;5	ENSP00000348708:G1100S;ENSP00000350221:G1100S;ENSP00000380244:G1100S	ENSP00000348708:G1100S	G	-	1	0	0	UPF2	12024750	12024750	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.202000	0.77856	2.535000	0.85469	0.557000	0.71058	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-2.881116	1	0.170000				57	57		279	279	1		1	1		0	0	71	0		1	1	0	28	0	96	0	57	279
UPF2	26019	broad.mit.edu	37	10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	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)			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)				CTGCTGATGCGCCTCTGATTA	0.358																																						ENST00000356352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2602-2604)Cgc>Tgc		UPF2 regulator of nonsense transcripts homolog (yeast)							59.0	58.0	58.0					10																	11997479		2203	4300	6503	SO:0001583	missense	26019	0	0					g.chr10:11997479G>A	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.2602C>T	chr10.hg19:g.11997479G>A	ENSP00000348708:p.Arg868Cys	0					UPF2_ENST00000357604.5_Missense_Mutation_p.R868C|UPF2_ENST00000397053.2_Missense_Mutation_p.R868C	p.R868C			1	2	3	2.000167	Q9HAU5	RENT2_HUMAN		13	3075	-		Renal(717;0.228)	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	1	1	hg19	c.2602C>T	CCDS7086.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960300	0.74016	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23950	1.88;1.88;1.88	5.17	5.17	0.71159	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68546	-0.5380	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.7054:0.2946	.	868	Q9HAU5	RENT2_HUMAN	C	868	ENSP00000348708:R868C;ENSP00000350221:R868C;ENSP00000380244:R868C	ENSP00000348708:R868C	R	-	1	0	0	UPF2	12037485	12037485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.203000	0.72137	2.413000	0.81919	0.591000	0.81541	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.143616	1	0.170000				43	43		207	206	1		1	1		0	0	69	0		1	9.996378e-01	0	14	0	47	0	43	207
RAB11FIP2	22841	broad.mit.edu	37	10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	221					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443																																						ENST00000355624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(661-663)Cga>Tga		RAB11 family interacting protein 2 (class I)							182.0	184.0	183.0					10																	119799769		2203	4299	6502	SO:0001587	stop_gained	22841	0	0					g.chr10:119799769G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.661C>T	chr10.hg19:g.119799769G>A	ENSP00000347839:p.Arg221*	0					RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000451610.2_RNA	p.R221*	NM_014904.2	NP_055719.1	1	2	3	2.008551	Q7L804	RFIP2_HUMAN		2	1100	-		Colorectal(252;0.235)	A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	0	1	hg19	c.661C>T	CCDS7602.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887967	0.91814	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	2.44	0.29823	5.5	2.44	0.29823	.	0.237237	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.2399	15.2537	0.73568	0.0:0.0:0.4982:0.5018	.	.	.	.	X	221	.	ENSP00000347839:R221X	R	-	1	2	2	RAB11FIP2	119789759	119789759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	0.284000	0.22305	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	NM_014904			145	145		580	567	1		1	1		0	0	126	0		1	9.979175e-01	0	2	0	37	0	145	580
UPF2	26019	broad.mit.edu	37	10	12070779	12070779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	370	MIF4G 1.				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)			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)				GCTCCCTGTGGTCCCTTTTCA	0.368																																						ENST00000356352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1108-1110)gaC>gaT		UPF2 regulator of nonsense transcripts homolog (yeast)							71.0	75.0	74.0					10																	12070779		2201	4298	6499	SO:0001819	synonymous_variant	26019	0	0					g.chr10:12070779G>A	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.1110C>T	chr10.hg19:g.12070779G>A		0					UPF2_ENST00000357604.5_Silent_p.D370D|UPF2_ENST00000397053.2_Silent_p.D370D	p.D370D			1	2	3	2.000167	Q9HAU5	RENT2_HUMAN		2	1583	-		Renal(717;0.228)	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	1	1	hg19	c.1110C>T	CCDS7086.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				90	89		345	340	1		1	1		0	0	67	0		1	9.999916e-01	0	29	0	38	0	90	345
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000369169.1	-	1	959	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000239032.2_Silent_p.C320C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	320					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647																																						ENST00000369169.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(958-960)tgC>tgT		prolactin releasing hormone receptor							49.0	48.0	49.0					10																	120353797		2203	4298	6501	SO:0001819	synonymous_variant	2834	0	0					g.chr10:120353797G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.960C>T	chr10.hg19:g.120353797G>A		0					PRLHR_ENST00000239032.2_Silent_p.C320C	p.C320C			1	2	3	2.008551	P49683	PRLHR_HUMAN		1	959	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	1	1	hg19	c.960C>T	CCDS7606.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	1	0	1		2	2	2	0		0	0	69		69	66	1	2.060000	-20.000000	1	0.170000	NM_004248			96	92		331	325	1		1	0		0	0	69	0		1	0	0	0	0	1	0	96	331
EIF3A	8661	broad.mit.edu	37	10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	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)			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)		TGCGATAAGTGCATTCTCAAA	0.398																																						ENST00000369144.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(610-612)Cac>Tac		eukaryotic translation initiation factor 3, subunit A							152.0	138.0	143.0					10																	120830529		2203	4300	6503	SO:0001583	missense	8661	0	0					g.chr10:120830529G>A	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.610C>T	chr10.hg19:g.120830529G>A	ENSP00000358140:p.His204Tyr	0					EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	p.H204Y	NM_003750.2	NP_003741.1	1	2	3	2.008551	P56537	IF6_HUMAN		5	737	-		Lung NSC(174;0.094)|all_lung(145;0.123)	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	1	1	hg19	c.610C>T	CCDS7608.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244668	0.79912	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.41400	1.0;1.0	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.40908	D	0.000981	T	0.74038	0.3664	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.80243	-0.1463	10	0.87932	D	0	-24.562	19.813	0.96554	0.0:0.0:1.0:0.0	.	204	Q14152	EIF3A_HUMAN	Y	204;170	ENSP00000358140:H204Y;ENSP00000438178:H170Y	ENSP00000358140:H204Y	H	-	1	0	0	EIF3A	120820519	120820519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_003750			62	62		242	239	1		1	1		0	0	49	0		1	1	0	30	0	344	0	62	242
RGS10	6001	broad.mit.edu	37	10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000369101.3	-	1	65	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000469575.1_5'Flank|RGS10_ENST00000369103.2_Missense_Mutation_p.S21I			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	13					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527																																						ENST00000369101.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				6						c.(37-39)aGc>aTc		regulator of G-protein signaling 10							99.0	90.0	93.0					10																	121286924		2203	4300	6503	SO:0001583	missense	6001	0	0					g.chr10:121286924C>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.38G>T	chr10.hg19:g.121286924C>A	ENSP00000358097:p.Ser13Ile	0					RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000469575.1_5'Flank	p.S13I			1	2	3	2.008551	O43665	RGS10_HUMAN		1	65	-		Lung NSC(174;0.094)|all_lung(145;0.123)	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	1	1	hg19	c.38G>T		1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034845	0.35893	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47528	0.85;0.84;0.84	5.63	4.73	0.59995	5.63	4.73	0.59995	.	0.429106	0.24220	N	0.040450	T	0.29652	0.0740	N	0.08118	0	0.22489	N	0.999058	B;B;B	0.28880	0.226;0.226;0.145	B;B;B	0.34242	0.176;0.178;0.058	T	0.22521	-1.0214	10	0.25751	T	0.34	-10.5978	11.8905	0.52626	0.0:0.9179:0.0:0.0821	.	21;7;13	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	I	7;21;13	ENSP00000376605:S7I;ENSP00000358099:S21I;ENSP00000358097:S13I	ENSP00000358097:S13I	S	-	2	0	0	RGS10	121276914	121276914	0.227000	0.23707	0.039000	0.18376	0.655000	0.38815	1.434000	0.34958	1.516000	0.48900	0.551000	0.68910	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_002925			47	47		264	258	1		1	1		0	0	62	0		1	9.999999e-01	0	28	0	107	0	47	264
TIAL1	7073	broad.mit.edu	37	10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000436547.2	-	3	231	c.187G>A	c.(187-189)Gct>Act	p.A63T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.A80T	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	63	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378																																						ENST00000436547.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(187-189)Gct>Act		TIA1 cytotoxic granule-associated RNA binding protein-like 1							117.0	126.0	123.0					10																	121342012		2203	4300	6503	SO:0001583	missense	7073	0	0					g.chr10:121342012C>T	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.187G>A	chr10.hg19:g.121342012C>T	ENSP00000394902:p.Ala63Thr	0					TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.A80T	p.A63T	NM_003252.3	NP_003243.1	1	2	3	2.008551	Q01085	TIAR_HUMAN		3	231	-		Lung NSC(174;0.094)|all_lung(145;0.123)	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	1	1	hg19	c.187G>A	CCDS7613.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405115	0.62288	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.91	5.91	0.95273	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049698	0.85682	D	0.000000	T	0.25680	0.0625	N	0.25825	0.765	0.80722	D	1	B;P	0.49559	0.009;0.925	B;P	0.59012	0.025;0.85	T	0.01476	-1.1345	10	0.09338	T	0.73	-16.3566	20.3018	0.98617	0.0:1.0:0.0:0.0	.	80;63	A8K4L9;Q01085	.;TIAR_HUMAN	T	80;63;24;24	ENSP00000358089:A80T;ENSP00000394902:A63T;ENSP00000403573:A24T;ENSP00000358082:A24T	ENSP00000358082:A24T	A	-	1	0	0	TIAL1	121332002	121332002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.799000	0.96334	0.650000	0.86243	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_022333, NM_003252			119	119		518	510	1		1	1		0	0	145	0		1	1	0	60	0	150	0	119	518
BAG3	9531	broad.mit.edu	37	10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	97					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637																																						ENST00000369085.3	1.000000	0.600000	9.100000e-01	6.800000e-01	0.780000	0.796980	0.780000	0.770000																										0				20						c.(289-291)cCt>cAt		BCL2-associated athanogene 3							127.0	127.0	127.0					10																	121429472		2203	4300	6503	SO:0001583	missense	9531	0	0					g.chr10:121429472C>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.290C>A	chr10.hg19:g.121429472C>A	ENSP00000358081:p.Pro97His	0						p.P97H	NM_004281.3	NP_004272.2	1	2	3	2.008551	O95817	BAG3_HUMAN		2	596	+		Lung NSC(174;0.109)|all_lung(145;0.142)	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	1	1	hg19	c.290C>A	CCDS7615.1	0	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687358	0.88639	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.91894	-1.85;-2.93	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	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	D	0.96290	0.9213	10	0.87932	D	0	-10.6369	19.1934	0.93677	0.0:1.0:0.0:0.0	.	97;97	O95817;Q53GY1	BAG3_HUMAN;.	H	97;39	ENSP00000358081:P97H;ENSP00000410036:P39H	ENSP00000358081:P97H	P	+	2	0	0	BAG3	121419462	121419462	1.000000	0.71417	0.796000	0.32109	0.852000	0.48524	7.059000	0.76684	2.536000	0.85505	0.561000	0.74099	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	1	0	1		2	2	2	0		0	0	192		192	188	1	2.060000	-10.286040	1	0.170000	NM_004281			62	60		890	870	1		1	1		0	0	192	0		1	9.998889e-01	0	28	0	158	0	62	890
BAG3	9531	broad.mit.edu	37	10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	157					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677																																						ENST00000369085.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(469-471)Gcg>Acg		BCL2-associated athanogene 3							26.0	30.0	28.0					10																	121429651		2189	4275	6464	SO:0001583	missense	9531	0	0					g.chr10:121429651G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.469G>A	chr10.hg19:g.121429651G>A	ENSP00000358081:p.Ala157Thr	0						p.A157T	NM_004281.3	NP_004272.2	1	2	3	2.008551	O95817	BAG3_HUMAN		2	775	+		Lung NSC(174;0.109)|all_lung(145;0.142)	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	1	1	hg19	c.469G>A	CCDS7615.1	1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024051	0.19433	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74737	-0.83;-0.87	5.28	4.36	0.52297	5.28	4.36	0.52297	.	0.414011	0.28290	N	0.015893	T	0.66713	0.2817	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.55108	-0.8192	10	0.30854	T	0.27	-2.4151	9.2785	0.37714	0.0737:0.0:0.7831:0.1432	.	157;157	O95817;Q53GY1	BAG3_HUMAN;.	T	157;99	ENSP00000358081:A157T;ENSP00000410036:A99T	ENSP00000358081:A157T	A	+	1	0	0	BAG3	121419641	121419641	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	3.823000	0.55715	1.195000	0.43115	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_004281			60	60		336	333	1		1	1		0	0	52	0		1	1	0	43	0	118	0	60	336
INPP5F	22876	broad.mit.edu	37	10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y|INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358																																						ENST00000361976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(328-330)Cat>Tat		inositol polyphosphate-5-phosphatase F							107.0	112.0	110.0					10																	121551041		2203	4298	6501	SO:0001583	missense	22876	0	0					g.chr10:121551041C>T	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.328C>T	chr10.hg19:g.121551041C>T	ENSP00000354519:p.His110Tyr	0					INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	p.H110Y	NM_014937.3	NP_055752.1	1	2	3	2.008551	Q01968	OCRL_HUMAN		4	494	+		Lung NSC(174;0.109)|all_lung(145;0.142)	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	1	1	hg19	c.328C>T	CCDS7616.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669097	0.88348	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.59772	0.74;0.24	5.63	5.63	0.86233	5.63	5.63	0.86233	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.71036	2.16	0.80722	D	1	P;D	0.67145	0.889;0.996	P;D	0.75484	0.651;0.986	T	0.76539	-0.2922	10	0.56958	D	0.05	-25.1659	20.0344	0.97551	0.0:1.0:0.0:0.0	.	110;110	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	110;110;14	ENSP00000354519:H110Y;ENSP00000358079:H110Y	ENSP00000354519:H110Y	H	+	1	0	0	INPP5F	121541031	121541031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.803000	0.96430	0.650000	0.86243	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_014937			71	69		354	351	1		1	1		0	0	98	0		1	9.679807e-01	0	8	0	22	0	71	354
INPP5F	22876	broad.mit.edu	37	10	121551380	121551380	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551380G>T	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369083.3_Splice_Site|INPP5F_ENST00000369081.1_Splice_Site	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343																																						ENST00000361976.2	1.000000	0.160000	4.900000e-01	2.400000e-01	0.330000	0.394323	0.330000	0.310000																										0				42						c.e5-1		inositol polyphosphate-5-phosphatase F							75.0	79.0	78.0					10																	121551380		2203	4300	6503	SO:0001630	splice_region_variant	22876	0	0					g.chr10:121551380G>T	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.445-1G>T	chr10.hg19:g.121551380G>T		0					INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site		NM_014937.3	NP_055752.1	1	2	3	2.008551	Q01968	OCRL_HUMAN		5	610	+		Lung NSC(174;0.109)|all_lung(145;0.142)	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000361976.2	0	1	hg19		CCDS7616.1	0	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855862	0.51376	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	.	.	.	5.67	4.77	0.60923	5.67	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0496	0.71858	0.0686:0.0:0.9314:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	INPP5F	121541370	121541370	1.000000	0.71417	0.978000	0.43139	0.631000	0.37964	7.420000	0.80191	1.532000	0.49169	0.650000	0.86243	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.255042	1	0.170000	NM_014937	Intron		10	10		366	363	0		1			0	0	56	0		9.968486e-01	0	0	0	0	0	0	10	366
SEC23IP	11196	broad.mit.edu	37	10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	354	Interaction with SEC23A.				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)			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)		ACAGATAGTCGATTTATTCCC	0.423																																						ENST00000369075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1060-1062)cGa>cAa		SEC23 interacting protein							79.0	85.0	82.0					10																	121663749		2203	4300	6503	SO:0001583	missense	11196	1	121412	27				g.chr10:121663749G>A	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.1061G>A	chr10.hg19:g.121663749G>A	ENSP00000358071:p.Arg354Gln	0					SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	p.R354Q	NM_007190.3	NP_009121.1	1	2	3	2.008551	Q9Y6Y8	S23IP_HUMAN		4	1133	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	1	1	hg19	c.1061G>A	CCDS7618.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297463	0.81025	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.046877	0.85682	D	0.000000	T	0.48077	0.1480	M	0.79258	2.445	0.48901	D	0.999727	D;P	0.64830	0.994;0.908	P;B	0.54238	0.746;0.327	T	0.48352	-0.9043	10	0.51188	T	0.08	-23.302	12.9576	0.58438	0.074:0.0:0.926:0.0	.	143;354	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	354;143;88	ENSP00000358071:R354Q;ENSP00000438773:R143Q;ENSP00000396906:R88Q	ENSP00000358071:R354Q	R	+	2	0	0	SEC23IP	121653739	121653739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.713000	0.92767	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000				68	66		249	244	1		1	1		0	0	73	0		1	1	0	31	0	117	0	68	249
SEC23IP	11196	broad.mit.edu	37	10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	966	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)			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)		ATACCTTTTCGCTCTTCAGAG	0.388																																						ENST00000369075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2896-2898)Gct>Act		SEC23 interacting protein							126.0	123.0	124.0					10																	121692654		2203	4300	6503	SO:0001583	missense	11196	0	0					g.chr10:121692654G>A	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.2896G>A	chr10.hg19:g.121692654G>A	ENSP00000358071:p.Ala966Thr	0					SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T|SEC23IP_ENST00000475542.1_3'UTR	p.A966T	NM_007190.3	NP_009121.1	1	2	3	2.008551	Q9Y6Y8	S23IP_HUMAN		17	2968	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	1	1	hg19	c.2896G>A	CCDS7618.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927052	0.92389	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;1.08	5.28	5.28	0.74379	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.67707	-0.5601	10	0.52906	T	0.07	-21.8137	19.2611	0.93968	0.0:0.0:1.0:0.0	.	755;966	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	966;755	ENSP00000358071:A966T;ENSP00000438773:A755T	ENSP00000358071:A966T	A	+	1	0	0	SEC23IP	121682644	121682644	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	0		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000				71	70		339	332	1		1	1		0	0	99	0		1	1	0	30	0	105	0	71	339
SEC61A2	55176	broad.mit.edu	37	10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000298428.9	+	7	639	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T|SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	184					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498																																						ENST00000298428.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(550-552)Gcc>Acc		Sec61 alpha 2 subunit (S. cerevisiae)							279.0	245.0	257.0					10																	12197864		2203	4300	6503	SO:0001583	missense	55176	0	0					g.chr10:12197864G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.550G>A	chr10.hg19:g.12197864G>A	ENSP00000298428:p.Ala184Thr	0					SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T	p.A184T	NM_018144.3	NP_060614.2	1	2	3	2.000167	Q9H9S3	S61A2_HUMAN		7	639	+		Renal(717;0.228)	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	1	1	hg19	c.550G>A	CCDS7088.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493699|5.493699	0.96339|0.96339	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;P;D|.	0.64830|.	0.994;0.936;0.981|.	D;D;D|.	0.67382|.	0.909;0.921;0.951|.	D|D	0.87420|0.87420	0.2381|0.2381	9|5	0.41790|.	T|.	0.15|.	-12.905|-12.905	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;184;184|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	T|Y	162;184;184;184|65	.|.	ENSP00000298428:A184T|.	A|C	+|+	1|2	0|0	0|0	SEC61A2|SEC61A2	12237870|12237870	12237870|12237870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCC|TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	1	0	1		2	2	2	0		0	0	206		206	206	1	2.060000	-20.000000	1	0.170000	NM_018144			212	205		914	898	1		1	1		0	0	206	0		1	7.693690e-01	0	2	0	12	0	212	914
SEC61A2	55176	broad.mit.edu	37	10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000298428.9	+	11	1305	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N|SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	406					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428																																						ENST00000298428.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1216-1218)Gat>Aat		Sec61 alpha 2 subunit (S. cerevisiae)							242.0	225.0	231.0					10																	12204260		2203	4300	6503	SO:0001583	missense	55176	5	121412	40				g.chr10:12204260G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1216G>A	chr10.hg19:g.12204260G>A	ENSP00000298428:p.Asp406Asn	0					SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N	p.D406N	NM_018144.3	NP_060614.2	1	2	3	2.000167	Q9H9S3	S61A2_HUMAN		11	1305	+		Renal(717;0.228)	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	1	1	hg19	c.1216G>A	CCDS7088.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462134|3.462134	0.63513|0.63513	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560|ENST00000419021	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	5.85|5.85	5.85|5.85	0.93711|0.93711	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.24920|.	0.0;0.114;0.004|.	B;B;B|.	0.33620|.	0.036;0.167;0.074|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|6	0.51188|0.66056	T|D	0.08|0.02	-9.5732|-9.5732	19.1612|19.1612	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;406;406|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	N|K	384;406;406;340;154|157	.|.	ENSP00000298428:D406N|ENSP00000402124:R157K	D|R	+|+	1|2	0|0	0|0	SEC61A2|SEC61A2	12244266|12244266	12244266|12244266	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.288000|0.288000	0.27193|0.27193	9.869000|9.869000	0.99810|0.99810	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	1	0	1		2	2	2	0		0	0	174		174	173	1	2.060000	-20.000000	1	0.170000	NM_018144			162	159		672	657	1		1	1		0	0	174	0		1	8.687630e-01	0	5	0	12	0	162	672
SEC23IP	11196	broad.mit.edu	37	10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	969	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)			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)		GCTCTTCAGAGTCACTTATGC	0.373																																						ENST00000369075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2905-2907)aGt>aAt		SEC23 interacting protein							128.0	125.0	126.0					10																	121692664		2203	4300	6503	SO:0001583	missense	11196	0	0					g.chr10:121692664G>A	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.2906G>A	chr10.hg19:g.121692664G>A	ENSP00000358071:p.Ser969Asn	0					SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N|SEC23IP_ENST00000475542.1_3'UTR	p.S969N	NM_007190.3	NP_009121.1	1	2	3	2.008551	Q9Y6Y8	S23IP_HUMAN		17	2978	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	1	1	hg19	c.2906G>A	CCDS7618.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670203	0.88348	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.44881	0.91;0.99	5.28	5.28	0.74379	5.28	5.28	0.74379	DDHD (2);	0.038155	0.85682	D	0.000000	T	0.74160	0.3680	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81031	-0.1117	10	0.87932	D	0	-16.7504	19.2611	0.93968	0.0:0.0:1.0:0.0	.	758;969	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	969;758	ENSP00000358071:S969N;ENSP00000438773:S758N	ENSP00000358071:S969N	S	+	2	0	0	SEC23IP	121682654	121682654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.296000	0.72751	2.625000	0.88918	0.655000	0.94253	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	0		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000				70	69		329	323	1		1	1		0	0	98	0		1	9.999996e-01	0	27	0	75	0	70	329
WDR11	55717	broad.mit.edu	37	10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	450					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)			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						TTACATTGTGCTCTGGAATGC	0.433																																						ENST00000263461.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(427-429)Ctc>Atc		WD repeat domain 11							136.0	116.0	123.0					10																	122619695		2203	4300	6503	SO:0001583	missense	55717	0	0					g.chr10:122619695C>A	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.427C>A	chr10.hg19:g.122619695C>A	ENSP00000263461:p.Leu143Ile	0						p.L143I	NM_018117.11	NP_060587.8	1	2	3	2.008551	Q8WWQ0	PHIP_HUMAN		4	673	+			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	1	1	hg19	c.427C>A	CCDS7619.1	1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678055	0.68042	.	.	ENSG00000120008	ENST00000263461	T	0.28895	1.59	5.48	3.61	0.41365	5.48	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.49126	1.545	0.53005	D	0.999962	D	0.63880	0.993	D	0.70016	0.967	T	0.20940	-1.0260	10	0.32370	T	0.25	-12.9534	10.5797	0.45248	0.0:0.7441:0.0:0.2559	.	143	Q9BZH6	WDR11_HUMAN	I	143	ENSP00000263461:L143I	ENSP00000263461:L143I	L	+	1	0	0	WDR11	122609685	122609685	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.650000	0.46665	1.326000	0.45319	0.591000	0.81541	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				84	81		376	364	1		1	1		0	0	78	0		1	9.999995e-01	0	13	0	82	0	84	376
WDR11	55717	broad.mit.edu	37	10	122626665	122626665	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		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)			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						CAGACCTTTCCTTAGATAACA	0.363																																						ENST00000263461.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1276-1278)tcC>tcA		WD repeat domain 11							122.0	115.0	117.0					10																	122626665		2203	4300	6503	SO:0001819	synonymous_variant	55717	0	0					g.chr10:122626665C>A	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.1278C>A	chr10.hg19:g.122626665C>A		0						p.S426S	NM_018117.11	NP_060587.8	1	2	3	2.008551	Q8WWQ0	PHIP_HUMAN		9	1524	+			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	1	1	hg19	c.1278C>A	CCDS7619.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1		2	2	2	0		0	0	58		58	55	1	2.060000	-3.166627	1	0.170000				62	62		262	259	1		1	1		0	0	58	0		1	9.999979e-01	0	11	0	73	0	62	262
WDR11	55717	broad.mit.edu	37	10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		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)			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						TTCCTGCTGACGGGACTGCTT	0.468																																						ENST00000263461.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1369-1371)aCg>aTg		WD repeat domain 11							111.0	95.0	100.0					10																	122630757		2203	4300	6503	SO:0001583	missense	55717	3	121412	39				g.chr10:122630757C>T	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.1370C>T	chr10.hg19:g.122630757C>T	ENSP00000263461:p.Thr457Met	0						p.T457M	NM_018117.11	NP_060587.8	1	2	3	2.008551	Q8WWQ0	PHIP_HUMAN		10	1616	+			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	1	1	hg19	c.1370C>T	CCDS7619.1	1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242164	0.22796	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.149594	0.64402	D	0.000016	D	0.89157	0.6635	L	0.54323	1.7	0.42261	D	0.992011	P;P	0.47910	0.902;0.902	B;B	0.38458	0.274;0.274	D	0.90896	0.4765	10	0.87932	D	0	-15.858	14.2591	0.66073	0.0:0.9264:0.0:0.0736	.	457;457	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	M	457	ENSP00000263461:T457M	ENSP00000263461:T457M	T	+	2	0	0	WDR11	122620747	122620747	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	4.530000	0.60595	2.468000	0.83385	0.591000	0.81541	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				82	79		286	280	1		1	1		0	0	59	0		1	9.999915e-01	0	9	0	53	0	82	286
ADARB2	105	broad.mit.edu	37	10	1230812	1230812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381305.1_Silent_p.L80L|ADARB2_ENST00000381310.3_Silent_p.L187L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	678	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				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)			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)		CTGCCATACAGCCGCGCCCAC	0.652																																						ENST00000381312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2032-2034)Ctg>Ttg		adenosine deaminase, RNA-specific, B2 (non-functional)							36.0	33.0	34.0					10																	1230812		2203	4300	6503	SO:0001819	synonymous_variant	105	0	0					g.chr10:1230812G>A	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.2032C>T	chr10.hg19:g.1230812G>A		0					ADARB2_ENST00000381310.3_Silent_p.L187L|ADARB2_ENST00000381305.1_Silent_p.L80L	p.L678L	NM_018702.3	NP_061172.1	1	2	3	2.000167	Q9NS39	RED2_HUMAN		9	2357	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	1	1	hg19	c.2032C>T	CCDS7058.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_018702			42	41		146	142	1		1	0		0	0	30	0		1	1.319682e-01	0	0	0	3	0	42	146
WDR11	55717	broad.mit.edu	37	10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			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						ATGAAGTCTGCGTGCTTTAGA	0.433																																						ENST00000263461.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2482-2484)gCg>gTg		WD repeat domain 11							214.0	198.0	204.0					10																	122650367		2203	4300	6503	SO:0001583	missense	55717	0	0					g.chr10:122650367C>T	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.2483C>T	chr10.hg19:g.122650367C>T	ENSP00000263461:p.Ala828Val	0					WDR11_ENST00000604509.1_Intron	p.A828V	NM_018117.11	NP_060587.8	1	2	3	2.008551	Q8WWQ0	PHIP_HUMAN		19	2729	+			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	1	1	hg19	c.2483C>T	CCDS7619.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.188943	0.94923	.	.	ENSG00000120008	ENST00000263461	D	0.90444	-2.67	5.51	5.51	0.81932	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.297552	0.37669	N	0.001989	D	0.86426	0.5930	L	0.36672	1.1	0.30098	N	0.807698	B;B;B;B	0.26975	0.063;0.063;0.165;0.046	B;B;B;B	0.18871	0.016;0.016;0.023;0.006	T	0.79193	-0.1904	10	0.28530	T	0.3	-3.5114	19.4182	0.94710	0.0:1.0:0.0:0.0	.	828;828;119;357	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	828	ENSP00000263461:A828V	ENSP00000263461:A828V	A	+	2	0	0	WDR11	122640357	122640357	0.949000	0.32298	0.010000	0.14722	0.888000	0.51559	7.348000	0.79366	2.575000	0.86900	0.655000	0.94253	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000				129	127		507	498	1		1	1		0	0	135	0		1	9.999998e-01	0	12	0	75	0	129	507
FGFR2	2263	broad.mit.edu	37	10	123256162	123256162	+	Missense_Mutation	SNP	C	C	T	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	ENST00000358487.5	-	13	2019	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	583	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)			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)	TACTCCATCCCGGGTGGCCTC	0.537		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5	1.000000	0.320000	5.600000e-01	3.800000e-01	0.460000	0.504745	0.460000	0.450000		5		Dom	yes			Dom	yes		10	10q26	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	yes	Crouzon, Pfeiffer, and Apert syndromes	E	E			gastric. NSCLC, endometrial		0				181						c.(1747-1749)Ggg>Agg		fibroblast growth factor receptor 2	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	151.0	148.0	149.0		1747,1750,1411,1480,1402,1399,1396,1483,1750	5.3	0.9	10	dbSNP_134	149	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	125,125,125,125,125,125,125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	583/822,584/770,471/710,494/708,468/707,467/706,466/705,495/681,584/823	123256162	1,13005	2203	4300	6503	SO:0001583	missense	2263	1	121412	34	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	g.chr10:123256162C>T	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.1747G>A	chr10.hg19:g.123256162C>T	ENSP00000351276:p.Gly583Arg	0					FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R	p.G583R	NM_000141.4	NP_000132.3	1	2	3	2.008551	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	13	2019	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	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	1	1	hg19	c.1747G>A	CCDS31298.1	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338989	0.81911	2.27E-4	0.0	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	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.28	5.28	0.74379	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047777	0.85682	D	0.000000	D	0.92163	0.7515	N	0.21142	0.635	0.80722	D	1	P;P;D;D;D;P;D;D	0.89917	0.678;0.791;0.991;1.0;0.996;0.566;0.984;1.0	B;B;B;D;P;B;B;D	0.77004	0.205;0.13;0.325;0.963;0.609;0.081;0.379;0.989	D	0.93595	0.6925	10	0.87932	D	0	.	18.9702	0.92712	0.0:1.0:0.0:0.0	.	600;582;494;466;583;495;584;486	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	494;584;471;583;466;467;469;175;581;584;581;495;584;584;492	ENSP00000350166:G494R;ENSP00000358057:G471R;ENSP00000351276:G583R;ENSP00000348559:G466R;ENSP00000358056:G467R;ENSP00000358055:G469R;ENSP00000404219:G175R;ENSP00000263451:G581R;ENSP00000410294:G584R;ENSP00000309878:G581R;ENSP00000353262:G495R;ENSP00000358052:G584R;ENSP00000358054:G584R;ENSP00000337665:G492R	ENSP00000337665:G492R	G	-	1	0	0	FGFR2	123246152	123246152	1.000000	0.71417	0.926000	0.36857	0.880000	0.50808	7.722000	0.84778	2.464000	0.83262	0.549000	0.68633	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	0	0	1		2	2	2	0		0	0	230		230	228	1	2.060000	-2.388035	0	0.170000	NM_022976, NM_000141			37	37		934	915	0		1	1		0	0	230	0		1	8.504707e-01	0	7	0	81	0	37	934
ATE1	11101	broad.mit.edu	37	10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000224652.6	-	9	1098	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000369043.3_Missense_Mutation_p.G338D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	338					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			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)				GTGAAAGGAGCCATAGCCACA	0.408																																						ENST00000224652.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999822	0.990000	1.000000																										0				14						c.(1012-1014)gGc>gAc		arginyltransferase 1							46.0	41.0	43.0					10																	123600741		2203	4300	6503	SO:0001583	missense	11101	0	0					g.chr10:123600741C>T	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.1013G>A	chr10.hg19:g.123600741C>T	ENSP00000224652:p.Gly338Asp	0					ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369043.3_Missense_Mutation_p.G338D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D	p.G338D	NM_001001976.1	NP_001001976.1	1	2	3	2.008551	O95260	ATE1_HUMAN		9	1098	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	1	1	hg19	c.1013G>A	CCDS31300.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.393504|5.393504	0.96009|0.96009	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	5.64|5.64	5.64|5.64	0.86602|0.86602	Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86451|.	0.5936|.	M|M	0.91972|0.91972	3.26|3.26	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|.	0.998;0.999;1.0;0.999|.	D|.	0.88736|.	0.3240|.	9|.	0.87932|.	D|.	0|.	-17.8215|-17.8215	19.7174|19.7174	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;242;338;338|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|X	338;39;338;242;331;223|334	.|.	ENSP00000224652:G338D|.	G|W	-|-	2|3	0|0	0|0	ATE1|ATE1	123590731|123590731	123590731|123590731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.786000|7.786000	0.85741|0.85741	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGC|TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001001976			19	18		92	89	1		1	1		0	0	32	0		9.999929e-01	9.999518e-01	0	5	0	82	0	19	92
ATE1	11101	broad.mit.edu	37	10	123661906	123661906	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000224652.6	-	6	898	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369043.3_Splice_Site_p.E271D|ATE1_ENST00000543447.1_Splice_Site_p.E156D|ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000540606.1_Splice_Site_p.E264D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	271					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			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)				TCCAAAGTACCTCTAACTTGT	0.323																																						ENST00000224652.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(811-813)gaG>gaT		arginyltransferase 1							76.0	79.0	78.0					10																	123661906		2203	4300	6503	SO:0001630	splice_region_variant	11101	0	0					g.chr10:123661906C>A	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.813+1G>T	chr10.hg19:g.123661906C>A		0					ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000540606.1_Splice_Site_p.E264D|ATE1_ENST00000543447.1_Splice_Site_p.E156D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369043.3_Splice_Site_p.E271D|ATE1_ENST00000535655.1_Intron	p.E271D	NM_001001976.1	NP_001001976.1	1	2	3	2.008551	O95260	ATE1_HUMAN		6	898	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	O95261|Q5SQQ3|Q8WW04	Splice_Site	SNP	ENST00000224652.6	1	0	hg19	c.813G>T	CCDS31300.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140442|5.140442	0.94560|0.94560	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.89;0.944;0.98;1.0|.	P;P;P;D|.	0.76071|.	0.607;0.766;0.806;0.987|.	T|T	0.78099|0.78099	-0.2336|-0.2336	8|5	.|.	.|.	.|.	-21.7068|-21.7068	18.9376|18.9376	0.92592|0.92592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;175;271;271|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|C	271;271;175;264;156|268	.|.	.|.	E|G	-|-	3|1	2|0	2|0	ATE1|ATE1	123651896|123651896	123651896|123651896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.205000|7.205000	0.77881|0.77881	2.706000|2.706000	0.92434|0.92434	0.557000|0.557000	0.71058|0.71058	GAG|GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.070771	1	0.170000	NM_001001976	Missense_Mutation		60	59		286	279	0		1	0		0	0	73	0		1	9.940871e-01	0	0	0	40	0	60	286
NSMCE4A	54780	broad.mit.edu	37	10	123724800	123724800	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000369023.3	-	5	805		c.e5+1		NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site|NSMCE4A_ENST00000538652.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403																																						ENST00000369023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.e5+1		non-SMC element 4 homolog A (S. cerevisiae)							79.0	80.0	80.0					10																	123724800		2203	4300	6503	SO:0001630	splice_region_variant	54780	0	0					g.chr10:123724800C>T	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.753+1G>A	chr10.hg19:g.123724800C>T		0					NSMCE4A_ENST00000489266.1_Splice_Site|NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000538652.1_Splice_Site		NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	1	2	3	2.008551	Q9NXX6	NSE4A_HUMAN		5	805	-		all_neural(114;0.138)|Glioma(114;0.222)	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Splice_Site	SNP	ENST00000369023.3	1	1	hg19		CCDS7624.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334152	0.60853	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NSMCE4A	123714790	123714790	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.561000	0.67339	2.516000	0.84829	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_017615	Intron		58	57		252	250	0		1			0	0	57	0		1	0	0	0	0	0	0	58	252
TACC2	10579	broad.mit.edu	37	10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	87					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)			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)				CCACAGGGAGCCAGGGGGCCA	0.642																																						ENST00000369005.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(259-261)gCc>gTc		transforming, acidic coiled-coil containing protein 2							70.0	72.0	71.0					10																	123842275		2203	4300	6503	SO:0001583	missense	10579	0	0					g.chr10:123842275C>T	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.260C>T	chr10.hg19:g.123842275C>T	ENSP00000358001:p.Ala87Val	0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V	p.A87V	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	600	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	1	1	hg19	c.260C>T	CCDS7626.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798907	0.90538	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.38;3.23;3.26;3.38;3.23	5.25	0.929	0.19449	5.25	0.929	0.19449	.	0.000000	0.32884	N	0.005531	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21821	0.061;0.061;0.061	B;B;B	0.18263	0.021;0.021;0.021	T	0.34750	-0.9816	10	0.27082	T	0.32	-5.5343	3.659	0.08232	0.1595:0.3586:0.3879:0.094	.	87;87;87	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	87;87;87;87;87;77	ENSP00000358001:A87V;ENSP00000424467:A87V;ENSP00000427618:A87V;ENSP00000334280:A87V;ENSP00000395048:A87V	ENSP00000334280:A87V	A	+	2	0	0	TACC2	123832265	123832265	0.001000	0.12720	0.036000	0.18154	0.854000	0.48673	0.219000	0.17641	0.585000	0.29608	0.557000	0.71058	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000				94	93		369	360	1		1	0		0	0	76	0		1	1.083507e-01	0	1	0	2	0	94	369
TACC2	10579	broad.mit.edu	37	10	123842452	123842452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842452C>A	ENST00000369005.1	+	4	777	c.437C>A	c.(436-438)gCc>gAc	p.A146D	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	146					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)			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)				GCCCCAAATGCCCCAGGAGAC	0.607																																						ENST00000369005.1	1.000000	0.130000	4.200000e-01	2.000000e-01	0.280000	0.349680	0.280000	0.270000																										0				83						c.(436-438)gCc>gAc		transforming, acidic coiled-coil containing protein 2							47.0	49.0	48.0					10																	123842452		2203	4300	6503	SO:0001583	missense	10579	0	0					g.chr10:123842452C>A	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.437C>A	chr10.hg19:g.123842452C>A	ENSP00000358001:p.Ala146Asp	0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D	p.A146D	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	777	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	0	1	hg19	c.437C>A	CCDS7626.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.505840|2.505840	0.44558|0.44558	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03272|.	4.01;3.99;3.99;4.01;3.99|.	5.23|5.23	-1.12|-1.12	0.09808|0.09808	5.23|5.23	-1.12|-1.12	0.09808|0.09808	.|.	1.267400|.	0.06112|.	N|.	0.667338|.	T|.	0.21186|.	0.0510|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.002;0.002|.	B;B;B|.	0.10450|.	0.005;0.005;0.005|.	T|.	0.27400|.	-1.0075|.	10|.	0.62326|.	D|.	0.03|.	1.3028|1.3028	4.8562|4.8562	0.13561|0.13561	0.2379:0.2411:0.4451:0.0759|0.2379:0.2411:0.4451:0.0759	.|.	146;146;146|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	D|X	146;146;146;146;146;136|159	ENSP00000358001:A146D;ENSP00000424467:A146D;ENSP00000427618:A146D;ENSP00000334280:A146D;ENSP00000395048:A146D|.	ENSP00000334280:A146D|.	A|C	+|+	2|3	0|2	0|2	TACC2|TACC2	123832442|123832442	123832442|123832442	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.015000|0.015000	0.13355|0.13355	-0.557000|-0.557000	0.06126|0.06126	0.544000|0.544000	0.68410|0.68410	GCC|TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-8.499427	1	0.170000				9	9		390	385	0		1	0		0	0	89	0		9.940041e-01	2.138799e-02	0	1	0	8	0	9	390
TACC2	10579	broad.mit.edu	37	10	123842597	123842597	+	Silent	SNP	C	C	T	rs559804804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	194					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)			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)				CCAGTGGCATCGACCAGTCAC	0.567																																						ENST00000369005.1	1.000000	0.660000	1	8.500000e-01	0.990000	0.948802	0.990000	1.000000																										0				83						c.(580-582)atC>atT		transforming, acidic coiled-coil containing protein 2							32.0	30.0	31.0					10																	123842597		2203	4300	6503	SO:0001819	synonymous_variant	10579	1	121410	31				g.chr10:123842597C>T	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.582C>T	chr10.hg19:g.123842597C>T		0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000515273.1_Silent_p.I194I	p.I194I	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	922	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	1	1	hg19	c.582C>T	CCDS7626.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.999820	1	0.170000				17	16		172	169	0		1	0		0	0	46	0		9.999670e-01	4.853800e-02	0	0	0	4	0	17	172
TACC2	10579	broad.mit.edu	37	10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	282					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)			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)				ACAAGATCCAGCCCCAAGAGC	0.602																																						ENST00000369005.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(844-846)Gcc>Acc		transforming, acidic coiled-coil containing protein 2							55.0	66.0	62.0					10																	123842859		2203	4300	6503	SO:0001583	missense	10579	0	0					g.chr10:123842859G>A	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.844G>A	chr10.hg19:g.123842859G>A	ENSP00000358001:p.Ala282Thr	0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T	p.A282T	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	1184	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	1	1	hg19	c.844G>A	CCDS7626.1	1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505395	0.64410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05319	3.57;3.49;3.46;3.57;3.49	5.57	2.68	0.31781	5.57	2.68	0.31781	.	1.115670	0.07049	N	0.831536	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.43180	-0.9407	10	0.72032	D	0.01	-1.2979	5.5878	0.17283	0.1646:0.0:0.677:0.1584	.	282;282;282	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	282;282;282;282;282;272	ENSP00000358001:A282T;ENSP00000424467:A282T;ENSP00000427618:A282T;ENSP00000334280:A282T;ENSP00000395048:A282T	ENSP00000334280:A282T	A	+	1	0	0	TACC2	123832849	123832849	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.204000	0.17335	0.292000	0.22492	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000				109	109		605	598	1		1	1		0	0	164	0		1	2.324542e-01	0	5	0	1	0	109	605
TACC2	10579	broad.mit.edu	37	10	123843830	123843830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	605					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)			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)				TCAGCAGCAAGCGTGATCCAG	0.567																																						ENST00000369005.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1813-1815)aaG>aaA		transforming, acidic coiled-coil containing protein 2							70.0	67.0	68.0					10																	123843830		2203	4300	6503	SO:0001819	synonymous_variant	10579	0	0					g.chr10:123843830G>A	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.1815G>A	chr10.hg19:g.123843830G>A		0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K	p.K605K	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	2155	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	1	1	hg19	c.1815G>A	CCDS7626.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				48	47		232	232	1		1	1		0	0	54	0		1	5.365678e-01	0	6	0	4	0	48	232
TACC2	10579	broad.mit.edu	37	10	123845303	123845303	+	Silent	SNP	G	G	A	rs41288006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123845303G>A	ENST00000369005.1	+	4	3628	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000515273.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1096					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)			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)				TGCCGGCCCCGCAGCAGAAAA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16793	0.0		0.001	False		,,,				2504	0.0					ENST00000369005.1	1.000000	0.380000	7.800000e-01	4.800000e-01	0.600000	0.636460	0.600000	0.580000																										0				83						c.(3286-3288)ccG>ccA		transforming, acidic coiled-coil containing protein 2		G	,	1,4405	2.1+/-5.4	0,1,2202	42.0	49.0	47.0		,3288	-3.2	0.0	10	dbSNP_127	47	11,8589	9.1+/-34.3	0,11,4289	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,	,1096/2949	123845303	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10579	81	121408	50				g.chr10:123845303G>A	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.3288G>A	chr10.hg19:g.123845303G>A		0					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000515273.1_Silent_p.P1096P	p.P1096P	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		4	3628	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	0	1	hg19	c.3288G>A	CCDS7626.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	1		20	2	2	1		1	1	67		67	66	1	2.060000	-3.323456	1	0.170000				21	22		404	397	0		1	0		1	0	67	0		6.044929e-01	9.257788e-02	0	0	0	10	0	21	404
TACC2	10579	broad.mit.edu	37	10	123989890	123989890	+	Missense_Mutation	SNP	C	C	T	rs567347253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123989890C>T	ENST00000369005.1	+	16	8402	c.8062C>T	c.(8062-8064)Cgg>Tgg	p.R2688W	TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688					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)			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)				TGCCATCATGCGGATAGAAGC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18687	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1	1.000000	0.130000	3.700000e-01	1.800000e-01	0.250000	0.321581	0.250000	0.240000																										0				83						c.(8062-8064)Cgg>Tgg		transforming, acidic coiled-coil containing protein 2							139.0	132.0	134.0					10																	123989890		2203	4300	6503	SO:0001583	missense	10579	5	121412	40				g.chr10:123989890C>T	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.8062C>T	chr10.hg19:g.123989890C>T	ENSP00000358001:p.Arg2688Trp	0					TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Intron	p.R2688W	NM_206862.2	NP_996744.2	1	2	3	2.008551	O95359	TACC2_HUMAN		16	8402	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	0	1	hg19	c.8062C>T	CCDS7626.1	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342475	0.81911	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000368999;ENST00000260733	T;T;T;T;T;T	0.07327	3.65;3.32;3.65;3.32;3.2;3.2	5.92	4.95	0.65309	5.92	4.95	0.65309	.	0.000000	0.32204	N	0.006425	T	0.15825	0.0381	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.02610	-1.1134	10	0.87932	D	0	-20.069	10.8248	0.46625	0.4815:0.5185:0.0:0.0	.	766;834;2688	O95359-1;O95359-5;O95359	.;.;TACC2_HUMAN	W	2688;834;2688;834;778;766	ENSP00000358001:R2688W;ENSP00000425062:R834W;ENSP00000334280:R2688W;ENSP00000350701:R834W;ENSP00000357995:R778W;ENSP00000260733:R766W	ENSP00000260733:R766W	R	+	1	2	2	TACC2	123979880	123979880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.894000	0.63206	1.432000	0.47375	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-2.548801	1	0.170000				11	11		526	519	0		1	0		0	0	142	0		9.982368e-01	7.501788e-03	0	0	0	6	0	11	526
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T	rs202210822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000260723.4	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										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)				ATGATAATGTCGAACACGGTG	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		20447	0.001		0.001	False		,,,				2504	0.0					ENST00000260723.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(10-12)tCg>tTg		BTB (POZ) domain containing 16							198.0	179.0	186.0					10																	124034607		2203	4300	6503	SO:0001583	missense	118663	11	121410	43				g.chr10:124034607C>T	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.11C>T	chr10.hg19:g.124034607C>T	ENSP00000260723:p.Ser4Leu	0					BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	p.S4L	NM_144587.2	NP_653188.2	1	2	3	2.008551	Q32M84	BTBDG_HUMAN		2	262	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	1	1	hg19	c.11C>T	CCDS31301.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.704	0.910321	0.17833	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19105	2.29;2.17	3.74	2.62	0.31277	3.74	2.62	0.31277	.	1.302300	0.05746	N	0.602239	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.22109	T	0.4	0.0467	5.3294	0.15924	0.0:0.1349:0.0:0.8651	.	4;4	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	4	ENSP00000260723:S4L;ENSP00000357990:S4L	ENSP00000260723:S4L	S	+	2	0	0	BTBD16	124024597	124024597	0.007000	0.16637	0.068000	0.19968	0.001000	0.01503	0.223000	0.17719	0.797000	0.33971	-0.302000	0.09304	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_144587			84	82		454	448	1		1			0	0	101	0		1	0	0	0	0	0	0	84	454
PLEKHA1	59338	broad.mit.edu	37	10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368990.3	+	2	225	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	32	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)			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)				GTACTTCATACTGGATACCAG	0.363																																						ENST00000368990.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(94-96)Ctg>Atg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							85.0	87.0	86.0					10																	124152810		2203	4300	6503	SO:0001583	missense	59338	0	0					g.chr10:124152810C>A	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.94C>A	chr10.hg19:g.124152810C>A	ENSP00000357986:p.Leu32Met	0					PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L32M	p.L32M	NM_001001974.2	NP_001001974.1	1	2	3	2.008551	Q9HB21	PKHA1_HUMAN		2	225	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	1	1	hg19	c.94C>A	CCDS7629.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170764	0.78452	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.08	4.25	0.50352	6.08	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.983;1.0	D;D	0.91635	0.995;0.999	D	0.95196	0.8312	10	0.87932	D	0	-14.4662	12.7713	0.57423	0.0:0.8684:0.0:0.1316	.	32;32	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	32	ENSP00000357986:L32M;ENSP00000357985:L32M;ENSP00000357984:L32M;ENSP00000438608:L32M;ENSP00000376547:L32M;ENSP00000394416:L32M	ENSP00000357984:L32M	L	+	1	2	2	PLEKHA1	124142800	124142800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.991000	0.70602	0.917000	0.36895	-0.229000	0.12294	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.295813	1	0.170000	NM_001001974			48	45		227	224	1		1	1		0	0	30	0		1	1	0	40	0	101	0	48	227
HTRA1	5654	broad.mit.edu	37	10	124268275	124268275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124268275G>A	ENST00000368984.3	+	6	1237	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	370	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)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCCCATGACCGACAGGCCAAA	0.527																																						ENST00000368984.3	1.000000	0.140000	4.200000e-01	2.100000e-01	0.290000	0.352556	0.290000	0.270000																										0				17						c.(1108-1110)cGa>cAa		HtrA serine peptidase 1							76.0	79.0	78.0					10																	124268275		2203	4300	6503	SO:0001583	missense	5654	2	121412	38				g.chr10:124268275G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1109G>A	chr10.hg19:g.124268275G>A	ENSP00000357980:p.Arg370Gln	0						p.R370Q	NM_002775.4	NP_002766.1	1	2	3	2.008551	Q92743	HTRA1_HUMAN		6	1237	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	0	1	hg19	c.1109G>A	CCDS7630.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241792	0.79912	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.15139	2.45;2.45	5.16	5.16	0.70880	5.16	5.16	0.70880	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.69823	2.125	0.80722	D	1	P	0.49862	0.929	B	0.26969	0.075	T	0.26258	-1.0108	10	0.72032	D	0.01	-10.4162	18.6471	0.91415	0.0:0.0:1.0:0.0	.	370	Q92743	HTRA1_HUMAN	Q	370;337;111	ENSP00000357980:R370Q;ENSP00000412676:R111Q	ENSP00000357980:R370Q	R	+	2	0	0	HTRA1	124258265	124258265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.620000	0.98373	2.410000	0.81850	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	0	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.854209	1	0.170000	NM_002775			11	10		464	459	0		1	1		0	0	94	0		9.982504e-01	9.999531e-01	0	2	0	820	0	11	464
DMBT1	1755	broad.mit.edu	37	10	124333230	124333230	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000338354.3	+	6	341		c.e6-1		DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						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)			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)				CCACCCTGCAGGTTCTCTGAT	0.567																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.e6-1		deleted in malignant brain tumors 1							171.0	172.0	172.0					10																	124333230		1895	4118	6013	SO:0001630	splice_region_variant	1755	0	0					g.chr10:124333230G>T		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.236-1G>T	chr10.hg19:g.124333230G>T		0					DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site				1	2	3	2.008551	Q9UGM3	DMBT1_HUMAN		6	341	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338472	0.24253	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	2.92	2.92	0.33932	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5416	0.39255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DMBT1	124323220	124323220	0.992000	0.36948	0.685000	0.30070	0.024000	0.10985	3.215000	0.51169	1.949000	0.56562	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1		2	2	2	0		0	0	185		185	183	1	2.060000	-3.225261	1	0.170000	NM_004406	Intron		146	146		726	719	1		1	0		0	0	185	0		1	2.831883e-02	0	0	0	2	0	146	726
DMBT1	1755	broad.mit.edu	37	10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000338354.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	180	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			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)				TACCTGTGGAGCTGCCCCCAC	0.577																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	1.000000	0.740000	1	8.500000e-01	0.990000	0.946753	0.990000	1.000000																										0				72						c.(538-540)aGc>aAc		deleted in malignant brain tumors 1							130.0	128.0	128.0					10																	124336170		2041	4193	6234	SO:0001583	missense	1755	0	0					g.chr10:124336170G>A		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.539G>A	chr10.hg19:g.124336170G>A	ENSP00000342210:p.Ser180Asn	0					DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N	p.S180N			1	2	3	2.008551	Q9UGM3	DMBT1_HUMAN		7	645	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	1	1	hg19	c.539G>A		1	.	.	.	.	.	.	.	.	.	.	g	8.383	0.838009	0.16891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.41	-2.83	0.05769	4.41	-2.83	0.05769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.285370	0.05954	N	0.639375	T	0.38480	0.1042	N	0.11284	0.12	0.09310	N	0.999996	B;B;B;B;D;B	0.58970	0.069;0.001;0.067;0.002;0.984;0.169	B;B;B;B;D;B	0.63793	0.062;0.007;0.076;0.004;0.918;0.351	T	0.45352	-0.9267	10	0.16420	T	0.52	.	11.3067	0.49340	0.7997:0.0:0.2003:0.0	.	180;180;180;180;180;180	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	N	180	ENSP00000342210:S180N;ENSP00000343175:S180N;ENSP00000327747:S180N;ENSP00000357905:S180N;ENSP00000357951:S180N;ENSP00000357952:S180N;ENSP00000352593:S180N	ENSP00000331522:S180N	S	+	2	0	0	DMBT1	124326160	124326160	0.000000	0.05858	0.951000	0.38953	0.233000	0.25261	-0.058000	0.11750	-0.405000	0.07599	-0.794000	0.03295	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-12.774560	1	0.170000	NM_004406			48	47		531	519	1		1	1		0	0	147	0		1	9.999731e-01	0	26	0	144	0	48	531
DMBT1	1755	broad.mit.edu	37	10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000338354.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			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)				CACCAATGATGCCAATGTGGT	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	1.000000	0.220000	3.600000e-01	2.500000e-01	0.300000	0.359233	0.300000	0.300000																										0				72						c.(802-804)Gcc>Tcc		deleted in malignant brain tumors 1							215.0	214.0	214.0					10																	124339216		2004	4169	6173	SO:0001583	missense	1755	0	0					g.chr10:124339216G>T		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.802G>T	chr10.hg19:g.124339216G>T	ENSP00000342210:p.Ala268Ser	0					DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S	p.A268S			1	2	3	2.008551	Q9UGM3	DMBT1_HUMAN		10	908	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	1	1	hg19	c.802G>T		0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269065	0.80469	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.07	4.07	0.47477	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79776	0.4504	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.986;0.999;0.619;0.999	D;D;D;P;D	0.91635	0.987;0.991;0.985;0.727;0.999	D	0.88134	0.2840	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	268	ENSP00000342210:A268S;ENSP00000343175:A268S;ENSP00000327747:A268S;ENSP00000357905:A268S;ENSP00000357951:A268S;ENSP00000357952:A268S	ENSP00000331522:A268S	A	+	1	0	0	DMBT1	124329206	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	1		2	2	2	0		0	0	471		471	474	1	2.060000	-3.013916	1	0.170000	NM_004406			53	41		2056	1747	0		1	1		0	0	471	0		1	7.839273e-01	0	3	0	111	0	53	2056
DMBT1	1755	broad.mit.edu	37	10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000338354.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2060	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)				GGTGGCTGCAACTATGATTAT	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(6178-6180)aAc>aCc		deleted in malignant brain tumors 1							116.0	112.0	113.0					10																	124395524		1974	4143	6117	SO:0001583	missense	1755	0	0					g.chr10:124395524A>C		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.6179A>C	chr10.hg19:g.124395524A>C	ENSP00000342210:p.Asn2060Thr	0					DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T	p.N2060T			1	2	3	2.008551	Q9UGM3	DMBT1_HUMAN		50	6285	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	1	1	hg19	c.6179A>C		1	.	.	.	.	.	.	.	.	.	.	A	8.904	0.957041	0.18507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.41	-2.7	0.06004	5.41	-2.7	0.06004	CUB (5);	2.122320	0.02507	N	0.091111	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	P;B;B;P;B;B;B	0.46142	0.676;0.213;0.386;0.873;0.05;0.05;0.062	B;B;B;B;B;B;B	0.42282	0.254;0.06;0.124;0.382;0.049;0.049;0.081	T	0.33317	-0.9873	10	0.29301	T	0.29	.	10.5743	0.45219	0.4977:0.0:0.5023:0.0	.	780;2040;1309;2189;1432;2050;2060	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	T	2060;2189;2060;2060;2060;2059;1432;2050;1432;1432;2060;2050;1432;206;780	ENSP00000342210:N2060T;ENSP00000343175:N2050T;ENSP00000327747:N1432T;ENSP00000357905:N2060T;ENSP00000357951:N2050T;ENSP00000357952:N1432T;ENSP00000352593:N780T	ENSP00000331522:N1432T	N	+	2	0	0	DMBT1	124385514	124385514	0.000000	0.05858	0.013000	0.15412	0.431000	0.31685	-0.947000	0.03901	-0.414000	0.07495	-0.376000	0.06991	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_004406			58	56		221	214	1		1	1		0	0	55	0		1	1	0	92	0	408	0	58	221
C10orf120	399814	broad.mit.edu	37	10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	221										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)				GTTGGCATCATCACAATTATG	0.403																																						ENST00000329446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(661-663)gAt>gTt		chromosome 10 open reading frame 120							112.0	94.0	100.0					10																	124457595		2203	4300	6503	SO:0001583	missense	399814	0	0					g.chr10:124457595T>A		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.662A>T	chr10.hg19:g.124457595T>A	ENSP00000331012:p.Asp221Val	0						p.D221V	NM_001010912.1	NP_001010912.1	1	2	3	2.008551	Q5SQS8	CJ120_HUMAN		3	693	-		all_neural(114;0.169)|Glioma(114;0.222)	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	1	1	hg19	c.662A>T	CCDS31302.1	1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313421	0.40996	.	.	ENSG00000183559	ENST00000329446	T	0.35973	1.28	4.71	-2.4	0.06583	4.71	-2.4	0.06583	.	0.760985	0.11541	N	0.553777	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	0.999991	P	0.44044	0.825	B	0.43103	0.408	T	0.12142	-1.0559	10	0.36615	T	0.2	-2.5136	2.9532	0.05868	0.3016:0.2686:0.0:0.4298	.	221	Q5SQS8	CJ120_HUMAN	V	221	ENSP00000331012:D221V	ENSP00000331012:D221V	D	-	2	0	0	C10orf120	124447585	124447585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-0.525000	0.06391	-0.323000	0.08544	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_001010912			45	44		183	180	1		1			0	0	33	0		1	0	0	0	0	0	0	45	183
C10orf120	399814	broad.mit.edu	37	10	124457633	124457633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	208										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)				CCTTTCGTCTGGCCTTATTTT	0.448																																						ENST00000329446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(622-624)gcC>gcT		chromosome 10 open reading frame 120							120.0	100.0	107.0					10																	124457633		2203	4300	6503	SO:0001819	synonymous_variant	399814	0	0					g.chr10:124457633G>A		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.624C>T	chr10.hg19:g.124457633G>A		0						p.A208A	NM_001010912.1	NP_001010912.1	1	2	3	2.008551	Q5SQS8	CJ120_HUMAN		3	655	-		all_neural(114;0.169)|Glioma(114;0.222)	B2RU17	Silent	SNP	ENST00000329446.4	1	1	hg19	c.624C>T	CCDS31302.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_001010912			50	50		216	213	1		1			0	0	35	0		1	0	0	0	0	0	0	50	216
CUZD1	50624	broad.mit.edu	37	10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H|CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H					CUB and zona pellucida-like domains 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)		ACTGTTGAAAGGCTGGTTTGG	0.388																																						ENST00000368904.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1693-1695)cCt>cAt		CUB and zona pellucida-like domains 1							188.0	157.0	168.0					10																	124591924		2203	4300	6503	SO:0001583	missense	50624	0	0					g.chr10:124591924G>T	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.1694C>A	chr10.hg19:g.124591924G>T	ENSP00000357900:p.Pro565His	0					CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H|CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H	p.P565H			1	2	3	2.008551				11	2643	-		all_neural(114;0.169)|Glioma(114;0.222)		Missense_Mutation	SNP	ENST00000368904.1	1	1	hg19	c.1694C>A	CCDS7631.1	1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892986	0.33442	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.40225	1.04;1.04;1.04	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.184780	0.36268	N	0.002682	T	0.55909	0.1950	M	0.64997	1.995	0.09310	N	0.99999	D	0.71674	0.998	P	0.61328	0.887	T	0.50980	-0.8763	10	0.45353	T	0.12	-19.8253	11.8476	0.52393	0.0:0.0:0.7809:0.2191	.	565	Q86UP6	CUZD1_HUMAN	H	565;284;284;199;284;565;565	ENSP00000357900:P565H;ENSP00000441590:P565H;ENSP00000376540:P565H	ENSP00000340905:P199H	P	-	2	0	0	CUZD1	124581914	124581914	0.521000	0.26258	0.078000	0.20375	0.148000	0.21650	2.828000	0.48120	2.564000	0.86499	0.655000	0.94253	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-3.805298	1	0.170000	NM_022034			122	118		468	455	1		1	0		0	0	122	0		1	1	0	0	0	99	0	122	468
CUZD1	50624	broad.mit.edu	37	10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T|CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T					CUB and zona pellucida-like domains 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)		TCAAAAAGAGCCATGCTGGTG	0.343																																						ENST00000368904.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(1192-1194)Gct>Act		CUB and zona pellucida-like domains 1							126.0	110.0	116.0					10																	124594412		2203	4300	6503	SO:0001583	missense	50624	1	121408	31				g.chr10:124594412C>T	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.1192G>A	chr10.hg19:g.124594412C>T	ENSP00000357900:p.Ala398Thr	0					CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T	p.A398T			1	2	3	2.008551				9	2141	-		all_neural(114;0.169)|Glioma(114;0.222)		Missense_Mutation	SNP	ENST00000368904.1	1	1	hg19	c.1192G>A	CCDS7631.1	1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126578	0.56721	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82167	-1.58;-1.58;-1.58	4.81	3.86	0.44501	4.81	3.86	0.44501	Zona pellucida sperm-binding protein (3);	0.182978	0.45606	D	0.000341	D	0.83312	0.5227	L	0.46741	1.465	0.31908	N	0.615022	D	0.61080	0.989	P	0.57620	0.824	T	0.80997	-0.1132	10	0.18710	T	0.47	-12.2227	12.0467	0.53483	0.3723:0.6277:0.0:0.0	.	398	Q86UP6	CUZD1_HUMAN	T	398;117;117;32;117;398;398	ENSP00000357900:A398T;ENSP00000441590:A398T;ENSP00000376540:A398T	ENSP00000340905:A32T	A	-	1	0	0	CUZD1	124584402	124584402	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	0.854000	0.27791	2.217000	0.71921	0.460000	0.39030	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-19.999740	1	0.170000	NM_022034			45	44		232	228	1		1	0		0	0	40	0		1	9.999874e-01	0	0	0	90	0	45	232
FAM24A	118670	broad.mit.edu	37	10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)		p.A2T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTTAGGCATGGCAAAGATGTT	0.502																																						ENST00000368894.1	1.000000	0.250000	4.800000e-01	3.100000e-01	0.380000	0.432788	0.380000	0.370000																										1	Substitution - Missense(1)	p.A2T(1)	large_intestine(1)	9						c.(4-6)Gca>Aca		family with sequence similarity 24, member A							302.0	253.0	270.0					10																	124671154		2203	4300	6503	SO:0001583	missense	118670	0	0					g.chr10:124671154G>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.4G>A	chr10.hg19:g.124671154G>A	ENSP00000357889:p.Ala2Thr	0						p.A2T	NM_001029888.1	NP_001025059.1	1	2	3	2.008551	A6NFZ4	FA24A_HUMAN		2	125	+		all_neural(114;0.169)|Glioma(114;0.222)		Missense_Mutation	SNP	ENST00000368894.1	1	1	hg19	c.4G>A	CCDS31304.1	0	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701867	0.15172	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.15	-2.45	0.06481	3.15	-2.45	0.06481	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.24119	-1.0169	8	0.23302	T	0.38	.	6.5539	0.22450	0.0:0.1316:0.6108:0.2575	.	2	A6NFZ4	FA24A_HUMAN	T	2	.	ENSP00000357889:A2T	A	+	1	0	0	FAM24A	124661144	124661144	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.384000	0.01063	-0.482000	0.06782	-0.521000	0.04368	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	0	0	1		2	2	2	0		0	0	179		179	179	1	2.060000	-3.117641	1	0.170000	XM_058332			30	30		924	911	0		1			0	0	179	0		1	0	0	0	0	0	0	30	924
C10orf88	80007	broad.mit.edu	37	10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378																																						ENST00000481909.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1303-1305)gAc>gGc		chromosome 10 open reading frame 88							93.0	89.0	91.0					10																	124691977		2203	4300	6503	SO:0001583	missense	80007	0	0					g.chr10:124691977T>C	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1304A>G	chr10.hg19:g.124691977T>C	ENSP00000419126:p.Asp435Gly	0					C10orf88_ENST00000368891.5_5'UTR	p.D435G	NM_024942.3	NP_079218.2	1	2	3	2.008551	Q9H8K7	CJ088_HUMAN		6	1528	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	1	1	hg19	c.1304A>G	CCDS7632.1	1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136030	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	3.67	0.42095	4.83	3.67	0.42095	.	0.314175	0.26103	U	0.026322	T	0.53206	0.1782	M	0.69823	2.125	0.34834	D	0.740018	B	0.27997	0.197	B	0.28465	0.09	T	0.60954	-0.7160	9	0.66056	D	0.02	.	6.5949	0.22667	0.1534:0.0:0.1601:0.6865	.	435	Q9H8K7	CJ088_HUMAN	G	435	.	ENSP00000419126:D435G	D	-	2	0	0	C10orf88	124681967	124681967	0.996000	0.38824	0.979000	0.43373	0.974000	0.67602	0.855000	0.27805	0.655000	0.30866	0.533000	0.62120	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	0	0	1		18	4	2	1		1	1	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_024942			52	52		223	221	1		1	1		1	0	48	0		9.999968e-01	8.389026e-01	0	8	0	22	0	52	223
C10orf88	80007	broad.mit.edu	37	10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343																																						ENST00000481909.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1177-1179)Ctt>Ttt		chromosome 10 open reading frame 88							95.0	93.0	94.0					10																	124692104		2203	4300	6503	SO:0001583	missense	80007	0	0					g.chr10:124692104G>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1177C>T	chr10.hg19:g.124692104G>A	ENSP00000419126:p.Leu393Phe	0					C10orf88_ENST00000368891.5_5'UTR	p.L393F	NM_024942.3	NP_079218.2	1	2	3	2.008551	Q9H8K7	CJ088_HUMAN		6	1401	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	1	1	hg19	c.1177C>T	CCDS7632.1	1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121303	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	4.99	3.11	0.35812	.	0.000000	0.52532	U	0.000075	T	0.72045	0.3412	M	0.79475	2.455	0.40647	D	0.982001	D	0.89917	1.0	D	0.91635	0.999	T	0.74009	-0.3802	9	0.87932	D	0	.	7.8941	0.29695	0.2521:0.0:0.7479:0.0	.	393	Q9H8K7	CJ088_HUMAN	F	393	.	ENSP00000419126:L393F	L	-	1	0	0	C10orf88	124682094	124682094	1.000000	0.71417	0.622000	0.29159	0.897000	0.52465	2.723000	0.47277	1.081000	0.41110	-0.150000	0.13652	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_024942			41	39		185	182	1		1	1		0	0	29	0		1	9.992036e-01	0	9	0	43	0	41	185
PSTK	118672	broad.mit.edu	37	10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000368887.3	+	3	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.G173S	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	173					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)			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)		AGATTCGTTGGGCTTTTGCCA	0.383																																						ENST00000368887.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				13						c.(517-519)Ggc>Agc		phosphoseryl-tRNA kinase							54.0	53.0	54.0					10																	124742796		2203	4300	6503	SO:0001583	missense	118672	0	0					g.chr10:124742796G>A	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.517G>A	chr10.hg19:g.124742796G>A	ENSP00000357882:p.Gly173Ser	0					PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.G173S	p.G173S	NM_153336.2	NP_699167.2	1	2	3	2.008551	Q8IV42	PSTK_HUMAN		3	957	+		all_neural(114;0.169)|Glioma(114;0.222)	Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	1	1	hg19	c.517G>A	CCDS7633.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552661|4.552661	0.86127|0.86127	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.28454|.	1.61;1.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.75085|0.75085	2.285|2.285	0.50632|0.50632	D|D	0.999881|0.999881	D|.	0.65815|.	0.995|.	D|.	0.71656|.	0.974|.	T|.	0.75736|.	-0.3213|.	10|.	0.08179|.	T|.	0.78|.	-5.2141|-5.2141	18.9646|18.9646	0.92691|0.92691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q8IV42|.	PSTK_HUMAN|.	S|X	173|173	ENSP00000357882:G173S;ENSP00000384764:G173S|.	ENSP00000357882:G173S|.	G|W	+|+	1|3	0|0	0|0	PSTK|PSTK	124732786|124732786	124732786|124732786	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.959000|0.959000	0.62525|0.62525	4.039000|4.039000	0.57325|0.57325	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GGC|TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_153336			26	25		127	122	1		1	1		0	0	35	0		9.999999e-01	8.317269e-01	0	10	0	8	0	26	127
ACADSB	36	broad.mit.edu	37	10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000358776.4	+	5	660	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	216					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCACGCAGGGCTCTTTCTGGT	0.398																																						ENST00000358776.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(646-648)Ctc>Ttc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)|Valproic Acid(DB00313)						138.0	133.0	135.0					10																	124800860		2203	4300	6503	SO:0001583	missense	36	0	0					g.chr10:124800860C>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.646C>T	chr10.hg19:g.124800860C>T	ENSP00000357873:p.Leu216Phe	0					ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	p.L216F	NM_001609.3	NP_001600.1	1	2	3	2.008551	P45954	ACDSB_HUMAN		5	660	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	1	1	hg19	c.646C>T	CCDS7634.1	1	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640989	0.14386	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95482	-3.72;-3.72	6.01	2.67	0.31697	6.01	2.67	0.31697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.191034	0.45126	D	0.000390	D	0.85923	0.5810	N	0.04636	-0.2	0.44899	D	0.997917	B	0.15930	0.015	B	0.18263	0.021	T	0.79766	-0.1665	10	0.27785	T	0.31	.	8.0122	0.30359	0.3112:0.3526:0.3362:0.0	.	216	P45954	ACDSB_HUMAN	F	114;216	ENSP00000357862:L114F;ENSP00000357873:L216F	ENSP00000357873:L216F	L	+	1	0	0	ACADSB	124790850	124790850	0.884000	0.30299	0.868000	0.34077	0.187000	0.23431	1.331000	0.33793	1.514000	0.48869	0.650000	0.86243	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	1	0	0		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_001609			110	107		569	560	1		1	1		0	0	140	0		1	9.999835e-01	0	33	0	49	0	110	569
ACADSB	36	broad.mit.edu	37	10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000358776.4	+	5	685	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	224					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCAAATGTAGACCCTACCATT	0.398																																						ENST00000358776.4	1.000000	0.550000	9.300000e-01	6.500000e-01	0.760000	0.783917	0.760000	0.750000																										0				17						c.(670-672)gAc>gGc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)|Valproic Acid(DB00313)						123.0	119.0	120.0					10																	124800885		2203	4300	6503	SO:0001583	missense	36	0	0					g.chr10:124800885A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.671A>G	chr10.hg19:g.124800885A>G	ENSP00000357873:p.Asp224Gly	0					ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	p.D224G	NM_001609.3	NP_001600.1	1	2	3	2.008551	P45954	ACDSB_HUMAN		5	685	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	1	1	hg19	c.671A>G	CCDS7634.1	0	.	.	.	.	.	.	.	.	.	.	A	35	5.564262	0.96527	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99051	-5.37;-5.37	6.01	6.01	0.97437	6.01	6.01	0.97437	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.203474	0.51477	D	0.000095	D	0.98349	0.9452	L	0.49256	1.55	0.47547	D	0.999456	P	0.35363	0.497	P	0.44673	0.457	D	0.99346	1.0913	10	0.66056	D	0.02	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	224	P45954	ACDSB_HUMAN	G	122;224	ENSP00000357862:D122G;ENSP00000357873:D224G	ENSP00000357873:D224G	D	+	2	0	0	ACADSB	124790875	124790875	1.000000	0.71417	0.451000	0.26982	0.662000	0.39071	8.954000	0.93051	2.307000	0.77673	0.528000	0.53228	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	0	0	0		17	4	2	1		1	1	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_001609			40	40		588	577	0		1	1		1	0	131	0		9.993701e-01	7.533005e-01	0	10	0	70	0	40	588
HMX2	3167	broad.mit.edu	37	10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	93					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642																																						ENST00000339992.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(277-279)Aag>Gag		H6 family homeobox 2							25.0	34.0	31.0					10																	124909094		2116	4235	6351	SO:0001583	missense	3167	0	0					g.chr10:124909094A>G		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.277A>G	chr10.hg19:g.124909094A>G	ENSP00000341108:p.Lys93Glu	0						p.K93E	NM_005519.1	NP_005510.1	1	2	3	2.008551	A2RU54	HMX2_HUMAN		2	534	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	1	1	hg19	c.277A>G	CCDS31305.1	1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738077	0.49045	.	.	ENSG00000188816	ENST00000339992	D	0.89939	-2.59	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.175281	0.48767	D	0.000163	T	0.77491	0.4138	L	0.27053	0.805	0.43857	D	0.996451	B	0.12013	0.005	B	0.09377	0.004	T	0.67995	-0.5526	10	0.05721	T	0.95	.	8.4983	0.33141	0.913:0.0:0.087:0.0	.	93	A2RU54	HMX2_HUMAN	E	93	ENSP00000341108:K93E	ENSP00000341108:K93E	K	+	1	0	0	HMX2	124899084	124899084	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	3.684000	0.54671	2.004000	0.58718	0.533000	0.62120	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	XM_370580			82	82		353	346	1		1			0	0	48	0		1	0	0	0	0	0	0	82	353
BUB3	9184	broad.mit.edu	37	10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368865.4	+	5	669	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P|BUB3_ENST00000538238.1_Missense_Mutation_p.T74P	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(460-462)Aca>Cca		BUB3 mitotic checkpoint protein							143.0	138.0	140.0					10																	124919965		2203	4300	6503	SO:0001583	missense	9184	0	0					g.chr10:124919965A>C	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.460A>C	chr10.hg19:g.124919965A>C	ENSP00000357858:p.Thr154Pro	0					BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P	p.T154P	NM_004725.3	NP_004716.1	1	2	3	2.008551	O43684	BUB3_HUMAN		5	669	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	1	1	hg19	c.460A>C	CCDS7635.1	1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898435	0.91962	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.72394	-0.65;1.44;-0.65;-0.65	5.23	5.23	0.72850	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101842	0.64402	D	0.000003	T	0.81866	0.4913	H	0.96142	3.775	0.80722	D	1	P;B	0.43024	0.798;0.412	B;B	0.42343	0.384;0.148	D	0.87596	0.2494	10	0.72032	D	0.01	0.0523	15.4116	0.74929	1.0:0.0:0.0:0.0	.	154;154	O43684;O43684-2	BUB3_HUMAN;.	P	154;74;154;154	ENSP00000357858:T154P;ENSP00000444354:T74P;ENSP00000357851:T154P;ENSP00000383941:T154P	ENSP00000357851:T154P	T	+	1	0	0	BUB3	124909955	124909955	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000				130	129		605	597	1		1	1		0	0	127	0		1	1	0	137	0	255	0	130	605
GPR26	2849	broad.mit.edu	37	10	125426094	125426094	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	ENST00000284674.1	+	1	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	57					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTGCACCGTGGTCAACATGC	0.721																																						ENST00000284674.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.996670	0.990000	1.000000																										0				20						c.(169-171)gtG>gtA		G protein-coupled receptor 26							10.0	10.0	10.0					10																	125426094		2172	4269	6441	SO:0001819	synonymous_variant	2849	0	0					g.chr10:125426094G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.171G>A	chr10.hg19:g.125426094G>A		0						p.V57V	NM_153442.3	NP_703143.1	1	2	3	2.008551	Q8NDV2	GPR26_HUMAN		1	224	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	Q2M2E2	Silent	SNP	ENST00000284674.1	0	1	hg19	c.171G>A	CCDS7636.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.737100	1	0.170000				11	11		59	58	0		1			0	0	11	0		9.986880e-01	0	0	0	0	0	0	11	59
GPR26	2849	broad.mit.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597																																						ENST00000284674.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R298*(1)	breast(1)	20						c.(892-894)Cga>Tga		G protein-coupled receptor 26							84.0	74.0	78.0					10																	125447554		2203	4300	6503	SO:0001587	stop_gained	2849	0	0					g.chr10:125447554C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.892C>T	chr10.hg19:g.125447554C>T	ENSP00000284674:p.Arg298*	0						p.R298*	NM_153442.3	NP_703143.1	1	2	3	2.008551	Q8NDV2	GPR26_HUMAN		3	945	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	Q2M2E2	Nonsense_Mutation	SNP	ENST00000284674.1	0	1	hg19	c.892C>T	CCDS7636.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	2	GPR26	125437544	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				65	63		383	374	1		1			0	0	71	0		1	0	0	0	0	0	0	65	383
CHST15	51363	broad.mit.edu	37	10	125804220	125804220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657																																						ENST00000346248.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(760-762)ccG>ccA		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							43.0	44.0	44.0					10																	125804220		2203	4300	6503	SO:0001819	synonymous_variant	51363	0	0					g.chr10:125804220C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	chr10.hg19:g.125804220C>T		0					CHST15_ENST00000421115.1_Silent_p.P254P|CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank	p.P254P	NM_015892.4	NP_056976.2	1	2	3	2.008551	Q7LFX5	CHSTF_HUMAN		3	1404	-			O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	1	1	hg19	c.762G>A	CCDS7638.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	1	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-3.798776	1	0.170000	NM_015892			48	46		175	174	1		1	1		0	0	41	0		1	9.997565e-01	0	11	0	38	0	48	175
CHST15	51363	broad.mit.edu	37	10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	251					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652																																						ENST00000346248.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(751-753)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							50.0	50.0	50.0					10																	125804230		2203	4300	6503	SO:0001583	missense	51363	0	0					g.chr10:125804230C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.752G>A	chr10.hg19:g.125804230C>T	ENSP00000333947:p.Arg251His	0					CHST15_ENST00000421115.1_Missense_Mutation_p.R251H|CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000462406.1_5'Flank	p.R251H	NM_015892.4	NP_056976.2	1	2	3	2.008551	Q7LFX5	CHSTF_HUMAN		3	1394	-			O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	1	1	hg19	c.752G>A	CCDS7638.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.551568	0.96501	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.74150	-0.3758	10	0.87932	D	0	-33.2708	17.9025	0.88909	0.0:1.0:0.0:0.0	.	251;251	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	251	ENSP00000333947:R251H;ENSP00000402394:R251H;ENSP00000412477:R251H	ENSP00000333947:R251H	R	-	2	0	0	CHST15	125794220	125794220	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_015892			52	50		170	169	1		1	1		0	0	36	0		1	9.998855e-01	0	9	0	39	0	52	170
OAT	4942	broad.mit.edu	37	10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000539214.1_Missense_Mutation_p.A76T|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	214					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)			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)	ACCTCCAGTGCGGGCAGATCA	0.403																																						ENST00000368845.5	1.000000	0.720000	1	8.700000e-01	0.990000	0.956525	0.990000	1.000000																										0				5						c.(640-642)Gca>Aca		ornithine aminotransferase	L-Ornithine(DB00129)						102.0	87.0	92.0					10																	126094013		2203	4300	6503	SO:0001583	missense	4942	0	0					g.chr10:126094013C>T	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.640G>A	chr10.hg19:g.126094013C>T	ENSP00000357838:p.Ala214Thr	0					OAT_ENST00000539214.1_Missense_Mutation_p.A76T|OAT_ENST00000467675.1_5'UTR	p.A214T	NM_000274.3	NP_000265.1	1	2	3	2.008551	P04181	OAT_HUMAN		5	732	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	1	1	hg19	c.640G>A	CCDS7639.1	1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704650	0.68615	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.4	4.4	0.53042	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.105835	0.64402	D	0.000005	D	0.98880	0.9621	M	0.86864	2.845	0.80722	D	1	P	0.51351	0.944	P	0.48524	0.58	D	0.99880	1.1112	10	0.66056	D	0.02	-16.4873	17.8803	0.88838	0.0:1.0:0.0:0.0	.	214	P04181	OAT_HUMAN	T	76;214	ENSP00000439042:A76T;ENSP00000357838:A214T	ENSP00000357838:A214T	A	-	1	0	0	OAT	126084003	126084003	0.999000	0.42202	0.990000	0.47175	0.639000	0.38242	3.565000	0.53798	2.406000	0.81754	0.563000	0.77884	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.221883	1	0.170000	NM_000274			31	29		324	322	1		1	1		0	0	75	0		1	1	0	67	0	393	0	31	324
OAT	4942	broad.mit.edu	37	10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	63					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)			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)	TTTCCTCTCTCCAGGGCTACA	0.348																																						ENST00000368845.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(187-189)Gag>Tag		ornithine aminotransferase	L-Ornithine(DB00129)						113.0	109.0	111.0					10																	126100554		2203	4300	6503	SO:0001587	stop_gained	4942	0	0					g.chr10:126100554C>A	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.187G>T	chr10.hg19:g.126100554C>A	ENSP00000357838:p.Glu63*	0					OAT_ENST00000539214.1_Intron	p.E63*	NM_000274.3	NP_000265.1	1	2	3	2.008551	P04181	OAT_HUMAN		2	279	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	ENST00000368845.5	0	1	hg19	c.187G>T	CCDS7639.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.787899	0.96945	.	.	ENSG00000065154	ENST00000368845	.	.	.	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.0584	16.7883	0.85580	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000357838:E63X	E	-	1	0	0	OAT	126090544	126090544	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.478000	0.81082	2.115000	0.64714	0.555000	0.69702	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-3.406269	1	0.170000	NM_000274			116	113		511	500	1		1	1		0	0	126	0		1	1	0	4	0	382	0	116	511
FAM53B	9679	broad.mit.edu	37	10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000337318.3	-	2	224	c.13C>A	c.(13-15)Cta>Ata	p.L5I	RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000432699.1_RNA|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	5										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTTCACTTAGGACCATCACC	0.592																																						ENST00000337318.3	1.000000	0.190000	4.700000e-01	2.600000e-01	0.340000	0.398884	0.340000	0.330000																										0				9						c.(13-15)Cta>Ata		family with sequence similarity 53, member B							113.0	107.0	109.0					10																	126395270		2203	4300	6503	SO:0001583	missense	9679	0	0					g.chr10:126395270G>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.13C>A	chr10.hg19:g.126395270G>T	ENSP00000338532:p.Leu5Ile	0					RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000432699.1_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I|RP11-12J10.3_ENST00000494792.1_3'UTR	p.L5I	NM_014661.3	NP_055476.3	1	2	3	2.008551	Q14153	FA53B_HUMAN		2	224	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	1	1	hg19	c.13C>A	CCDS7641.1	0	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779685	0.31502	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.40756	1.02;1.02;1.02	4.61	3.71	0.42584	4.61	3.71	0.42584	.	0.405020	0.23889	N	0.043562	T	0.41213	0.1149	N	0.24115	0.695	0.27832	N	0.941414	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.24621	-1.0155	10	0.02654	T	1	-2.5053	10.2122	0.43147	0.0941:0.0:0.9059:0.0	.	5;5;5	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	5	ENSP00000338532:L5I;ENSP00000376509:L5I;ENSP00000280780:L5I	ENSP00000280780:L5I	L	-	1	2	2	FAM53B	126385260	126385260	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.337000	0.43947	1.319000	0.45190	0.655000	0.94253	CTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	0	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-2.874463	1	0.170000	NM_014661			15	15		527	518	0		1	1		0	0	139	0		9.998568e-01	3.889145e-01	0	2	0	44	0	15	527
CTBP2	1488	broad.mit.edu	37	10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000337195.5	-	9	1349	c.950T>G	c.(949-951)aTc>aGc	p.I317S	CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000309035.6_Missense_Mutation_p.I857S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	317					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562																																						ENST00000337195.5	1.000000	0.860000	1	9.900000e-01	0.990000	0.991633	0.990000	1.000000																										0				25						c.(949-951)aTc>aGc		C-terminal binding protein 2							36.0	33.0	34.0					10																	126681860		2203	4300	6503	SO:0001583	missense	1488	0	0					g.chr10:126681860A>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.950T>G	chr10.hg19:g.126681860A>C	ENSP00000338615:p.Ile317Ser	0					CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S|CTBP2_ENST00000309035.6_Missense_Mutation_p.I857S	p.I317S	NM_001329.2	NP_001320.1	1	2	3	2.008551	P56545	CTBP2_HUMAN		9	1349	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	1	1	hg19	c.950T>G	CCDS7643.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261020	0.80246	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.72	4.72	0.59763	4.72	4.72	0.59763	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	14.3858	0.66942	1.0:0.0:0.0:0.0	.	317;857;385	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	S	317;857;385;317;317;317	ENSP00000338615:I317S;ENSP00000311825:I857S;ENSP00000357816:I385S;ENSP00000434630:I317S;ENSP00000436285:I317S;ENSP00000410474:I317S	ENSP00000311825:I857S	I	-	2	0	0	CTBP2	126671850	126671850	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	8.729000	0.91490	1.991000	0.58162	0.459000	0.35465	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_001083914			17	17		128	128	1		1	1		0	0	38	0		9.999754e-01	9.999999e-01	0	78	0	174	0	17	128
CAMK1D	57118	broad.mit.edu	37	10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	77	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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338																																						ENST00000378847.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(229-231)aaG>aaT		calcium/calmodulin-dependent protein kinase ID							132.0	126.0	128.0					10																	12708741		2203	4300	6503	SO:0001583	missense	57118	0	0					g.chr10:12708741G>T	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.231G>T	chr10.hg19:g.12708741G>T	ENSP00000368124:p.Lys77Asn	0					CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N	p.K77N	NM_153498.2	NP_705718.1	1	2	3	2.000167	Q8IU85	KCC1D_HUMAN		3	568	+			B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	1	1	hg19	c.231G>T	CCDS7091.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113066	0.37339	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38401	1.14;1.14	5.51	3.64	0.41730	5.51	3.64	0.41730	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	0.29620	0.0739	N	0.11651	0.15	0.53688	D	0.99997	D;B	0.56035	0.974;0.002	P;B	0.58210	0.835;0.011	T	0.02144	-1.1206	10	0.39692	T	0.17	-21.3343	7.0761	0.25205	0.2351:0.0:0.7649:0.0	.	77;77	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	77	ENSP00000368124:K77N;ENSP00000368122:K77N	ENSP00000368122:K77N	K	+	3	2	2	CAMK1D	12748747	12748747	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.100000	0.41777	2.593000	0.87608	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_020397			79	76		360	357	1		1	1		0	0	76	0		1	9.998004e-01	0	2	0	57	0	79	360
CTBP2	1488	broad.mit.edu	37	10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000337195.5	-	5	671	c.272A>G	c.(271-273)gAc>gGc	p.D91G	CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000309035.6_Missense_Mutation_p.D631G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	91					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617																																						ENST00000337195.5	1.000000	0.270000	6.800000e-01	3.700000e-01	0.490000	0.538315	0.490000	0.460000																										0				25						c.(271-273)gAc>gGc		C-terminal binding protein 2							88.0	69.0	75.0					10																	126691615		2203	4300	6503	SO:0001583	missense	1488	0	0					g.chr10:126691615T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.272A>G	chr10.hg19:g.126691615T>C	ENSP00000338615:p.Asp91Gly	0					CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000309035.6_Missense_Mutation_p.D631G	p.D91G	NM_001329.2	NP_001320.1	1	2	3	2.008551	P56545	CTBP2_HUMAN		5	671	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	1	1	hg19	c.272A>G	CCDS7643.1	0	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001605	0.74818	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.94	4.94	0.65067	4.94	4.94	0.65067	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.80723	-0.1255	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.0:0.0:1.0	.	91;631;159	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	G	91;631;159;91;91;91	ENSP00000338615:D91G;ENSP00000311825:D631G;ENSP00000357816:D159G;ENSP00000434630:D91G;ENSP00000436285:D91G;ENSP00000410474:D91G	ENSP00000311825:D631G	D	-	2	0	0	CTBP2	126681605	126681605	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.033000	0.88852	1.998000	0.58463	0.459000	0.35465	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-14.207830	1	0.170000	NM_001083914			13	13		314	309	0		1	1		0	0	81	0		9.995121e-01	9.984334e-01	0	12	0	255	0	13	314
EDRF1	26098	broad.mit.edu	37	10	127417664	127417664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127417664G>A	ENST00000356792.4	+	7	1117	c.885G>A	c.(883-885)gaG>gaA	p.E295E	C10orf137_ENST00000337623.3_Intron	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGACGGGGAGCACAGTCAGG	0.453																																						ENST00000356792.4	1.000000	0.610000	1	9.800000e-01	0.990000	0.965180	0.990000	1.000000																										0				61						c.(883-885)gaG>gaA									13.0	13.0	13.0					10																	127417664		875	1988	2863	SO:0001819	synonymous_variant	0	0	0					g.chr10:127417664G>A																												ENST00000356792.4:c.885G>A	chr10.hg19:g.127417664G>A		0					C10orf137_ENST00000337623.3_Intron	p.E295E	NM_001202438.1	NP_001189367.1	1	2	3	2.008551	Q3B7T1	EDRF1_HUMAN		7	1117	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	0	1	hg19	c.885G>A	CCDS55733.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-11.874210	1	0.170000				5	5		33	33	0		1	1		0	0	9	0		9.420492e-01	4.867087e-01	0	3	0	8	0	5	33
EDRF1	26098	broad.mit.edu	37	10	127421991	127421991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127421991A>G	ENST00000356792.4	+	10	1379	c.1147A>G	c.(1147-1149)Aca>Gca	p.T383A	C10orf137_ENST00000337623.3_Missense_Mutation_p.T349A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGATAAAGACAGAAGAAAT	0.279																																						ENST00000356792.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998520	0.990000	1.000000																										0				61						c.(1147-1149)Aca>Gca									13.0	14.0	13.0					10																	127421991		2160	4243	6403	SO:0001583	missense	0	0	0					g.chr10:127421991A>G																												ENST00000356792.4:c.1147A>G	chr10.hg19:g.127421991A>G	ENSP00000349244:p.Thr383Ala	0					C10orf137_ENST00000337623.3_Missense_Mutation_p.T349A	p.T383A	NM_001202438.1	NP_001189367.1	1	2	3	2.008551	Q3B7T1	EDRF1_HUMAN		10	1379	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	0	1	hg19	c.1147A>G	CCDS55733.1	1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682974	0.88542	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11712	2.75;2.75	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.76071	0.981;0.987;0.971	T	0.19095	-1.0316	10	0.59425	D	0.04	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	383;349;383	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	A	383;383;349	ENSP00000349244:T383A;ENSP00000336727:T349A	ENSP00000336727:T349A	T	+	1	0	0	C10orf137	127411981	127411981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.326000	0.78906	0.533000	0.62120	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-9.686922	1	0.170000				10	10		41	41	0		1	1		0	0	13	0		9.978505e-01	9.079328e-01	0	10	0	10	0	10	41
EDRF1	26098	broad.mit.edu	37	10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000356792.4	+	24	3716	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.R1128W	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393																																						ENST00000356792.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3484-3486)Cgg>Tgg									147.0	137.0	141.0					10																	127442353		2203	4300	6503	SO:0001583	missense	0	1	121412	25				g.chr10:127442353C>T																												ENST00000356792.4:c.3484C>T	chr10.hg19:g.127442353C>T	ENSP00000349244:p.Arg1162Trp	0					RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.R1128W|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	p.R1162W	NM_001202438.1	NP_001189367.1	1	2	3	2.008551	Q3B7T1	EDRF1_HUMAN		24	3716	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	1	1	hg19	c.3484C>T	CCDS55733.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748506	0.69533	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.054356	0.64402	D	0.000001	T	0.61590	0.2359	M	0.68952	2.095	0.54753	D	0.999982	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70935	0.9;0.971;0.928	T	0.64445	-0.6406	10	0.87932	D	0	.	14.4869	0.67624	0.156:0.844:0.0:0.0	.	1162;509;1128	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	W	1162;1128	ENSP00000349244:R1162W;ENSP00000336727:R1128W	ENSP00000336727:R1128W	R	+	1	2	2	C10orf137	127432343	127432343	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.843000	0.55865	2.627000	0.88993	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.041682	1	0.170000				66	64		304	300	1		1	1		0	0	57	0		1	9.729448e-01	0	6	0	23	0	66	304
MMP21	118856	broad.mit.edu	37	10	127456127	127456127	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	462					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)			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)	AAGTAAATTAACTTCTGTCTT	0.423																																						ENST00000368808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1384-1386)Tta>Cta		matrix metallopeptidase 21	Marimastat(DB00786)						114.0	111.0	112.0					10																	127456127		2203	4300	6503	SO:0001819	synonymous_variant	118856	0	0					g.chr10:127456127A>G	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.1384T>C	chr10.hg19:g.127456127A>G		0						p.L462L	NM_147191.1	NP_671724.1	1	2	3	2.008551	Q8N119	MMP21_HUMAN		6	1383	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	1	1	hg19	c.1384T>C	CCDS7647.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				75	72		249	247	1		1	0		0	0	45	0		1	0	0	0	0	1	0	75	249
MMP21	118856	broad.mit.edu	37	10	127459093	127459093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	349			E -> G (in dbSNP:rs28381302). {ECO:0000269|Ref.3}.		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)			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)	TCACCATCACCTCTCCATATT	0.418																																						ENST00000368808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1045-1047)gaG>gaA		matrix metallopeptidase 21	Marimastat(DB00786)						187.0	168.0	175.0					10																	127459093		2203	4300	6503	SO:0001819	synonymous_variant	118856	0	0					g.chr10:127459093C>T	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.1047G>A	chr10.hg19:g.127459093C>T		0						p.E349E	NM_147191.1	NP_671724.1	1	2	3	2.008551	Q8N119	MMP21_HUMAN		5	1046	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	1	1	hg19	c.1047G>A	CCDS7647.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				90	89		414	402	1		1			0	0	85	0		1	0	0	0	0	0	0	90	414
MMP21	118856	broad.mit.edu	37	10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	254					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)			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)	GTCACCTAGGCGCCAGGCGTG	0.637																																						ENST00000368808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(760-762)cGc>cAc		matrix metallopeptidase 21	Marimastat(DB00786)						123.0	102.0	109.0					10																	127461256		2203	4300	6503	SO:0001583	missense	118856	7	121412	40				g.chr10:127461256C>T	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.761G>A	chr10.hg19:g.127461256C>T	ENSP00000357798:p.Arg254His	0						p.R254H	NM_147191.1	NP_671724.1	1	2	3	2.008551	Q8N119	MMP21_HUMAN		3	760	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	1	1	hg19	c.761G>A	CCDS7647.1	1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389139	0.25118	.	.	ENSG00000154485	ENST00000368808	T	0.17854	2.25	4.51	0.116	0.14647	4.51	0.116	0.14647	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.522000	0.20933	N	0.083075	T	0.09379	0.0231	L	0.32530	0.975	0.37047	D	0.897399	B	0.15141	0.012	B	0.14023	0.01	T	0.20505	-1.0273	10	0.25106	T	0.35	-19.268	2.7793	0.05356	0.3403:0.3532:0.0:0.3065	.	254	Q8N119	MMP21_HUMAN	H	254	ENSP00000357798:R254H	ENSP00000357798:R254H	R	-	2	0	0	MMP21	127451246	127451246	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.563000	0.23547	0.150000	0.19136	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.759072	1	0.170000				70	68		269	267	1		1			0	0	67	0		1	0	0	0	0	0	0	70	269
UROS	7390	broad.mit.edu	37	10	127503679	127503679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368797.4	-	4	392	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368778.3_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	56					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438																																						ENST00000368797.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				7						c.(166-168)taC>taT		uroporphyrinogen III synthase							86.0	85.0	85.0					10																	127503679		2203	4300	6503	SO:0001819	synonymous_variant	7390	1	121412	31				g.chr10:127503679G>A	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.168C>T	chr10.hg19:g.127503679G>A		0					UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368778.3_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	p.Y56Y	NM_000375.2	NP_000366.1	1	2	3	2.008551	P10746	HEM4_HUMAN		4	392	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	B2RC13|D3DRF7|Q9H2T1	Silent	SNP	ENST00000368797.4	1	1	hg19	c.168C>T	CCDS7648.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.036861	1	0.170000	NM_000375			30	29		169	167	1		1	1		0	0	47	0		1	1	0	55	0	194	0	30	169
BCCIP	56647	broad.mit.edu	37	10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000278100.6	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000299130.3_Missense_Mutation_p.D94Y	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	94	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308																																						ENST00000278100.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(280-282)Gat>Tat		BRCA2 and CDKN1A interacting protein							108.0	113.0	111.0					10																	127516166		2203	4300	6503	SO:0001583	missense	56647	0	0					g.chr10:127516166G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.280G>T	chr10.hg19:g.127516166G>T	ENSP00000278100:p.Asp94Tyr	0					BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000299130.3_Missense_Mutation_p.D94Y	p.D94Y	NM_078468.2	NP_510868.1	1	2	3	2.008551	Q9P287	BCCIP_HUMAN		3	292	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	1	1	hg19	c.280G>T	CCDS7651.1	1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116374	0.56505	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.57	-0.773	0.10995	5.57	-0.773	0.10995	.	0.449301	0.25944	N	0.027300	T	0.69904	0.3163	M	0.92412	3.305	0.18873	N	0.999987	D;D;D;D;D	0.69078	0.993;0.992;0.995;0.997;0.979	D;D;D;D;D	0.73380	0.98;0.951;0.966;0.939;0.949	T	0.63175	-0.6696	10	0.87932	D	0	-1.4088	10.1274	0.42658	0.4075:0.0:0.5925:0.0	.	94;94;94;94;94	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	Y	94	ENSP00000278100:D94Y;ENSP00000299130:D94Y;ENSP00000357748:D94Y;ENSP00000394758:D94Y	ENSP00000278100:D94Y	D	+	1	0	0	BCCIP	127506156	127506156	0.828000	0.29307	0.003000	0.11579	0.970000	0.65996	1.817000	0.39002	-0.157000	0.11059	0.655000	0.94253	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				79	77		318	313	1		1	1		0	0	65	0		1	1	0	78	0	168	0	79	318
DHX32	55760	broad.mit.edu	37	10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|BCCIP_ENST00000368759.5_Intron|AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	541						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			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)				TGATCTCCTTCGGGATGTAAA	0.413																																						ENST00000284690.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1621-1623)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							165.0	143.0	150.0					10																	127529488		2203	4300	6503	SO:0001583	missense	55760	2	121412	36				g.chr10:127529488C>T		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.1621G>A	chr10.hg19:g.127529488C>T	ENSP00000284690:p.Glu541Lys	0					AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron	p.E541K	NM_018180.2	NP_060650.2	1	2	3	2.008551	Q7L7V1	DHX32_HUMAN		8	2111	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	1	1	hg19	c.1621G>A	CCDS7652.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908434	0.92107	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02579	4.24;4.24;4.24	4.75	4.75	0.60458	4.75	4.75	0.60458	Helicase-associated domain (2);	0.165187	0.52532	D	0.000075	T	0.08891	0.0220	M	0.88450	2.955	0.53688	D	0.999973	P	0.41214	0.742	B	0.39258	0.295	T	0.02457	-1.1156	10	0.87932	D	0	-11.2385	16.4963	0.84246	0.0:1.0:0.0:0.0	.	541	Q7L7V1	DHX32_HUMAN	K	165;541;460	ENSP00000357710:E165K;ENSP00000284690:E541K;ENSP00000284688:E460K	ENSP00000284688:E460K	E	-	1	0	0	DHX32	127519478	127519478	0.996000	0.38824	0.988000	0.46212	0.956000	0.61745	4.222000	0.58580	2.470000	0.83445	0.655000	0.94253	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	0	0	1		17	6	2	1		1	1	141		141	139	1	2.060000	-3.857597	1	0.170000	NM_018180			139	137		520	509	1		1	1		1	0	141	0		1	1	0	30	0	116	0	139	520
DHX32	55760	broad.mit.edu	37	10	127542554	127542554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	356						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			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)				CACCCACATCGATAACAAATC	0.378																																						ENST00000284690.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1066-1068)atC>atT		DEAH (Asp-Glu-Ala-His) box polypeptide 32							130.0	128.0	129.0					10																	127542554		2203	4300	6503	SO:0001819	synonymous_variant	55760	0	0					g.chr10:127542554G>A		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.1068C>T	chr10.hg19:g.127542554G>A		0					DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron	p.I356I	NM_018180.2	NP_060650.2	1	2	3	2.008551	Q7L7V1	DHX32_HUMAN		4	1558	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	1	1	hg19	c.1068C>T	CCDS7652.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_018180			90	87		419	405	1		1	1		0	0	108	0		1	1	0	23	0	100	0	90	419
ADAM12	8038	broad.mit.edu	37	10	127786984	127786984	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						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)			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)		CCTTGGCTTACCATGACAATT	0.473																																						ENST00000368679.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.e10+1		ADAM metallopeptidase domain 12							164.0	152.0	156.0					10																	127786984		2203	4300	6503	SO:0001630	splice_region_variant	8038	0	0					g.chr10:127786984C>A	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.1005+1G>T	chr10.hg19:g.127786984C>A		0					ADAM12_ENST00000368676.4_Splice_Site		NM_003474.4	NP_003465.3	1	2	3	2.008551	O43184	ADA12_HUMAN		10	1315	-		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)	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Splice_Site	SNP	ENST00000368679.4	1	1	hg19		CCDS7653.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347383	0.82022	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ADAM12	127776974	127776974	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	1	0	1		2	2	2	0		0	0	182		182	178	1	2.060000	-20.000000	1	0.170000		Intron		165	164		649	634	1		1			0	0	182	0		1	0	0	0	0	0	0	165	649
CAMK1D	57118	broad.mit.edu	37	10	12858268	12858268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	258	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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488																																						ENST00000378847.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990878	0.990000	1.000000																										0				16						c.(772-774)aaC>aaT		calcium/calmodulin-dependent protein kinase ID							82.0	74.0	77.0					10																	12858268		2203	4300	6503	SO:0001819	synonymous_variant	57118	1	121412	27				g.chr10:12858268C>T	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.774C>T	chr10.hg19:g.12858268C>T		0					CAMK1D_ENST00000378845.1_Silent_p.N258N	p.N258N	NM_153498.2	NP_705718.1	1	2	3	2.000167	Q8IU85	KCC1D_HUMAN		8	1111	+			B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	1	1	hg19	c.774C>T	CCDS7091.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_020397			23	23		187	181	1		1	0		0	0	45	0		9.999994e-01	9.351668e-01	0	1	0	39	0	23	187
ADAM12	8038	broad.mit.edu	37	10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A	rs181811173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	169					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)			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)		CAGCTTCTTCGCTGGGAAGAG	0.438													g|||	1	0.000199681	0.0	0.0	5008	,	,		18340	0.001		0.0	False		,,,				2504	0.0					ENST00000368679.4	1.000000	0.670000	1	8.000000e-01	0.950000	0.916632	0.950000	1.000000																										0				69						c.(505-507)gCg>gTg		ADAM metallopeptidase domain 12							155.0	135.0	142.0					10																	127806713		2203	4300	6503	SO:0001583	missense	8038	3	121412	40				g.chr10:127806713G>A	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.506C>T	chr10.hg19:g.127806713G>A	ENSP00000357668:p.Ala169Val	0					ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	p.A169V	NM_003474.4	NP_003465.3	1	2	3	2.008551	O43184	ADA12_HUMAN		6	815	-		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)	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	1	1	hg19	c.506C>T	CCDS7653.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	8.805	0.933822	0.18206	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21191	4.79;2.02;3.73	5.03	-1.72	0.08107	5.03	-1.72	0.08107	.	0.447781	0.22012	N	0.065856	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29627	0.164;0.252;0.252;0.252;0.095	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.053;0.016	T	0.32481	-0.9905	10	0.13853	T	0.58	.	2.4903	0.04608	0.3193:0.1111:0.4559:0.1137	.	166;166;169;166;169	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	169;169;166	ENSP00000357668:A169V;ENSP00000357665:A169V;ENSP00000391268:A166V	ENSP00000357665:A169V	A	-	2	0	0	ADAM12	127796703	127796703	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.068000	0.14531	-0.872000	0.04037	-1.731000	0.00696	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.142702	1	0.170000				36	34		421	413	0		1	0		0	0	93	0		1	7.313263e-01	0	0	0	32	0	36	421
DOCK1	1793	broad.mit.edu	37	10	128908593	128908593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	845					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)			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)		TCGAAATCGTCCACAGTGACC	0.428																																						ENST00000280333.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				72						c.(2533-2535)gtC>gtT		dedicator of cytokinesis 1							81.0	76.0	78.0					10																	128908593		1920	4148	6068	SO:0001819	synonymous_variant	1793	0	0					g.chr10:128908593C>T	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.2535C>T	chr10.hg19:g.128908593C>T		0						p.V845V	NM_001380.3	NP_001371.1	1	2	3	2.008551	Q14185	DOCK1_HUMAN		25	2644	+		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)	A9Z1Z5	Silent	SNP	ENST00000280333.6	1	1	hg19	c.2535C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_001380			21	21		74	74	1		1	1		0	0	18	0		9.999991e-01	9.999999e-01	0	29	0	90	0	21	74
FAM196A	642938	broad.mit.edu	37	10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	362										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						CATCATCTGAAGTTGTGCTTT	0.537																																						ENST00000522781.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1084-1086)cTt>cGt		family with sequence similarity 196, member A							175.0	181.0	179.0					10																	128973575		2203	4300	6503	SO:0001583	missense	642938	0	0					g.chr10:128973575A>C		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.1085T>G	chr10.hg19:g.128973575A>C	ENSP00000429763:p.Leu362Arg	0					FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R|DOCK1_ENST00000280333.6_Intron	p.L362R	NM_001039762.2	NP_001034851.1	1	2	3	2.008551	Q6ZSG2	F196A_HUMAN		4	1640	-			B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	1	1	hg19	c.1085T>G	CCDS31312.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296272	0.81025	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.72615	-0.67;-0.67	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83164	-0.0097	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	362;362	B7ZME7;Q6ZSG2	.;F196A_HUMAN	R	362	ENSP00000429763:L362R;ENSP00000428730:L362R	ENSP00000428730:L362R	L	-	2	0	0	FAM196A	128863565	128863565	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.832000	0.92079	2.047000	0.60756	0.460000	0.39030	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	1	0	1		2	2	2	0		0	0	215		215	213	1	2.060000	-20.000000	1	0.170000	NM_001039762			225	222		962	949	1		1	0		0	0	215	0		1	1.653050e-01	0	0	0	4	0	225	962
DOCK1	1793	broad.mit.edu	37	10	129160443	129160443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1112					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)			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)		ATATGATGCAGTGTGAATTCC	0.488																																						ENST00000280333.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999867	0.990000	1.000000																										0				72						c.(3334-3336)caG>caA		dedicator of cytokinesis 1							64.0	63.0	63.0					10																	129160443		2102	4255	6357	SO:0001819	synonymous_variant	1793	0	0					g.chr10:129160443G>A	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.3336G>A	chr10.hg19:g.129160443G>A		0						p.Q1112Q	NM_001380.3	NP_001371.1	1	2	3	2.008551	Q14185	DOCK1_HUMAN		33	3445	+		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)	A9Z1Z5	Silent	SNP	ENST00000280333.6	1	1	hg19	c.3336G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001380			26	25		146	138	1		1	1		0	0	41	0		9.999999e-01	9.999737e-01	0	13	0	86	0	26	146
DOCK1	1793	broad.mit.edu	37	10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1334	DHR-2.				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)			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)		AGTGATCAGGCCCAAGCCTGA	0.438																																						ENST00000280333.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999929	0.990000	1.000000																										0				72						c.(4000-4002)Ccc>Tcc		dedicator of cytokinesis 1							65.0	66.0	66.0					10																	129202634		1870	4105	5975	SO:0001583	missense	1793	0	0					g.chr10:129202634C>T	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.4000C>T	chr10.hg19:g.129202634C>T	ENSP00000280333:p.Pro1334Ser	0						p.P1334S	NM_001380.3	NP_001371.1	1	2	3	2.008551	Q14185	DOCK1_HUMAN		40	4109	+		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)	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	1	1	hg19	c.4000C>T		1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673705	0.88445	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.76575	0.826;0.988;0.952	T	0.01545	-1.1328	10	0.26408	T	0.33	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1334;1400;1334	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1334	ENSP00000280333:P1334S	ENSP00000280333:P1334S	P	+	1	0	0	DOCK1	129092624	129092624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_001380			24	24		122	120	1		1	1		0	0	24	0		9.999998e-01	9.999943e-01	0	15	0	92	0	24	122
DOCK1	1793	broad.mit.edu	37	10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1590	DHR-2.				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)			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)		ACGGAGGCACTGAGGCCGTTC	0.488																																						ENST00000280333.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4768-4770)cTg>cCg		dedicator of cytokinesis 1							196.0	196.0	196.0					10																	129224193		1958	4152	6110	SO:0001583	missense	1793	0	0					g.chr10:129224193T>C	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.4769T>C	chr10.hg19:g.129224193T>C	ENSP00000280333:p.Leu1590Pro	0						p.L1590P	NM_001380.3	NP_001371.1	1	2	3	2.008551	Q14185	DOCK1_HUMAN		47	4878	+		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)	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	1	1	hg19	c.4769T>C		1	.	.	.	.	.	.	.	.	.	.	t	17.76	3.469373	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	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	0.999;1.0;0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	14.8644	0.70404	0.0:0.0:0.0:1.0	.	1590;1656;1590	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	P	1590	ENSP00000280333:L1590P	ENSP00000280333:L1590P	L	+	2	0	0	DOCK1	129114183	129114183	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	7.817000	0.86213	2.094000	0.63399	0.370000	0.22315	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1		2	2	2	0		0	0	213		213	210	1	2.060000	-20.000000	1	0.170000	NM_001380			187	186		823	803	1		1	1		0	0	213	0		1	1	0	17	0	108	0	187	823
CLRN3	119467	broad.mit.edu	37	10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	20						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383																																						ENST00000368671.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(58-60)Tcc>Acc		clarin 3							113.0	101.0	105.0					10																	129690991		2203	4300	6503	SO:0001583	missense	119467	0	0					g.chr10:129690991A>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.58T>A	chr10.hg19:g.129690991A>T	ENSP00000357660:p.Ser20Thr	0						p.S20T	NM_152311.3	NP_689524.1	1	2	3	2.008551	Q8NCR9	CLRN3_HUMAN		1	220	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	1	1	hg19	c.58T>A	CCDS7656.1	1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780443	0.49891	.	.	ENSG00000180745	ENST00000368671	T	0.70749	-0.51	5.52	-5.86	0.02304	5.52	-5.86	0.02304	.	0.222808	0.38837	N	0.001554	T	0.65439	0.2691	M	0.62723	1.935	0.09310	N	0.999998	P	0.47484	0.896	P	0.45660	0.489	T	0.67189	-0.5733	10	0.44086	T	0.13	-14.6668	14.2358	0.65925	0.2353:0.699:0.0658:0.0	.	20	Q8NCR9	CLRN3_HUMAN	T	20	ENSP00000357660:S20T	ENSP00000357660:S20T	S	-	1	0	0	CLRN3	129580981	129580981	0.076000	0.21285	0.002000	0.10522	0.126000	0.20510	0.537000	0.23144	-0.709000	0.05008	0.533000	0.62120	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_152311			86	84		384	381	1		1	1		0	0	79	0		1	9.999996e-01	0	64	0	32	0	86	384
PTPRE	5791	broad.mit.edu	37	10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	373	Tyrosine-protein phosphatase 1. {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)			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)	ATCCGTAATCAGCGCCCTCAG	0.542											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(52;977 1184 20575 41685)	ENST00000254667.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1117-1119)cAg>cGg		protein tyrosine phosphatase, receptor type, E	Alendronate(DB00630)						266.0	210.0	229.0					10																	129868066		2203	4300	6503	SO:0001583	missense	5791	0	0					g.chr10:129868066A>G	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.1118A>G	chr10.hg19:g.129868066A>G	ENSP00000254667:p.Gln373Arg	0		OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	p.Q373R	NM_006504.4	NP_006495.1	1	2	3	2.008551	P23469	PTPRE_HUMAN		13	1397	+		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)	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	1	1	hg19	c.1118A>G	CCDS7657.1	1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819271	0.90873	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.0	5.0	0.66597	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D	0.76494	0.999;0.985;0.949;0.985	D;D;P;D	0.72338	0.977;0.93;0.814;0.93	D	0.93555	0.6890	10	0.45353	T	0.12	.	14.5529	0.68081	1.0:0.0:0.0:0.0	.	351;373;315;373	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	R	373;351;373;315	ENSP00000254667:Q373R;ENSP00000402337:Q373R;ENSP00000303350:Q315R	ENSP00000254667:Q373R	Q	+	2	0	0	PTPRE	129758056	129758056	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.106000	0.94253	2.099000	0.63709	0.533000	0.62120	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000				85	85		462	449	1		1	1		0	0	80	0		1	9.925980e-01	0	5	0	38	0	85	462
MKI67	4288	broad.mit.edu	37	10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2718	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)			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)				TTTGTGCTTGCTGTGGTGTCT	0.493																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(8152-8154)Gca>Aca		marker of proliferation Ki-67							122.0	115.0	117.0					10																	129901952		2203	4300	6503	SO:0001583	missense	4288	0	0					g.chr10:129901952C>T	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.8152G>A	chr10.hg19:g.129901952C>T	ENSP00000357643:p.Ala2718Thr	0					MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	p.A2718T	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	8527	-		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)	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	1	1	hg19	c.8152G>A	CCDS7659.1	1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194393	0.01594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.48	-2.61	0.06171	3.48	-2.61	0.06171	.	.	.	.	.	T	0.00666	0.0022	N	0.00317	-1.655	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.48468	-0.9033	9	0.10377	T	0.69	.	8.1379	0.31064	0.0:0.4302:0.0:0.5698	.	2717;2358;2718	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2718;2358;2717	ENSP00000357643:A2718T;ENSP00000357642:A2358T	ENSP00000357642:A2358T	A	-	1	0	0	MKI67	129791942	129791942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.647000	0.00860	-0.473000	0.06871	-0.794000	0.03295	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1		18	4	2	1		1	1	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_002417			104	103		509	497	1		1	1		1	0	112	0		1	9.991462e-01	0	22	0	54	0	104	509
MKI67	4288	broad.mit.edu	37	10	129903573	129903573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2177	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)			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)				GCTGCCTCTTGCTACCAGTTA	0.493																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(6529-6531)agC>agT		marker of proliferation Ki-67							152.0	144.0	147.0					10																	129903573		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129903573G>A	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.6531C>T	chr10.hg19:g.129903573G>A		0					MKI67_ENST00000368653.3_Silent_p.S1817S	p.S2177S	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	6906	-		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)	Q5VWH2	Silent	SNP	ENST00000368654.3	1	1	hg19	c.6531C>T	CCDS7659.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1		2	2	2	0		0	0	141		141	138	1	2.060000	-20.000000	1	0.170000	NM_002417			184	183		694	677	1		1	1		0	0	141	0		1	9.999657e-01	0	22	0	35	0	184	694
MKI67	4288	broad.mit.edu	37	10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1920	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)			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)				AGTCCCCACAAATGTGTTGAT	0.468																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(5758-5760)tTt>tCt		marker of proliferation Ki-67							217.0	214.0	215.0					10																	129904345		2203	4300	6503	SO:0001583	missense	4288	0	0					g.chr10:129904345A>G	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.5759T>C	chr10.hg19:g.129904345A>G	ENSP00000357643:p.Phe1920Ser	0					MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	p.F1920S	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	6134	-		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)	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	1	1	hg19	c.5759T>C	CCDS7659.1	1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891066	0.33348	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.66	-3.11	0.05299	3.66	-3.11	0.05299	.	0.693193	0.11826	N	0.525701	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;P;D	0.89917	0.22;0.811;1.0	B;P;D	0.77557	0.042;0.455;0.99	T	0.08932	-1.0698	10	0.06625	T	0.88	.	11.106	0.48203	0.4366:0.0:0.5634:0.0	.	1919;1560;1920	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1920;1560;1919	ENSP00000357643:F1920S;ENSP00000357642:F1560S	ENSP00000357642:F1560S	F	-	2	0	0	MKI67	129794335	129794335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.812000	0.04363	-0.250000	0.11733	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	0		2	2	2	0		0	0	237		237	237	1	2.060000	-20.000000	1	0.170000	NM_002417			225	221		1161	1139	1		1	1		0	0	237	0		1	9.982906e-01	0	18	0	32	0	225	1161
MKI67	4288	broad.mit.edu	37	10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	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)			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)				AGTGTGACCTCGTGTCTGGAA	0.483																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(4792-4794)cGa>cAa		marker of proliferation Ki-67							190.0	184.0	186.0					10																	129905311		2203	4300	6503	SO:0001583	missense	4288	1	121412	34				g.chr10:129905311C>T	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.4793G>A	chr10.hg19:g.129905311C>T	ENSP00000357643:p.Arg1598Gln	0					MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	p.R1598Q	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	5168	-		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)	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	1	0	hg19	c.4793G>A	CCDS7659.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968281	0.34754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.07	2.16	0.27623	3.07	2.16	0.27623	.	0.251885	0.26349	N	0.024891	T	0.01454	0.0047	N	0.08118	0	0.21445	N	0.999688	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.48502	-0.9030	10	0.30854	T	0.27	.	11.0914	0.48119	0.0:0.1897:0.8103:0.0	.	1597;1238;1598	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1598;1238;1597	ENSP00000357643:R1598Q;ENSP00000357642:R1238Q	ENSP00000357642:R1238Q	R	-	2	0	0	MKI67	129795301	129795301	0.211000	0.23529	0.105000	0.21289	0.025000	0.11179	1.344000	0.33941	0.893000	0.36288	-0.226000	0.12346	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1		2	2	2	0		0	0	190		190	187	1	2.060000	-3.200472	1	0.170000	NM_002417			217	211		884	859	1		1	1		0	0	190	0		1	9.997703e-01	0	14	0	37	0	217	884
MKI67	4288	broad.mit.edu	37	10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1526	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)			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)				TTCCTGAGTGCGAAGAATTCT	0.493																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(4576-4578)Gca>Aca		marker of proliferation Ki-67							337.0	301.0	313.0					10																	129905528		2203	4300	6503	SO:0001583	missense	4288	7	121412	46				g.chr10:129905528C>T	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.4576G>A	chr10.hg19:g.129905528C>T	ENSP00000357643:p.Ala1526Thr	0					MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	p.A1526T	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	4951	-		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)	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	1	1	hg19	c.4576G>A	CCDS7659.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303393	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02837	4.14;4.14	3.61	1.68	0.24146	3.61	1.68	0.24146	.	1.738000	0.03536	N	0.223115	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	P;P;P	0.44478	0.614;0.803;0.836	B;B;B	0.32805	0.099;0.127;0.153	T	0.47699	-0.9097	10	0.12103	T	0.63	.	6.1017	0.20051	0.0:0.755:0.0:0.245	.	1525;1166;1526	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1526;1166;1525	ENSP00000357643:A1526T;ENSP00000357642:A1166T	ENSP00000357642:A1166T	A	-	1	0	0	MKI67	129795518	129795518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.129000	0.10515	0.322000	0.23283	0.462000	0.41574	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1		18	2	2	0		0	1	315		315	312	1	2.060000	-20.000000	1	0.170000	NM_002417			282	273		1333	1305	1		1	1		0	0	315	0		1	9.996815e-01	0	18	0	38	0	282	1333
MKI67	4288	broad.mit.edu	37	10	129906354	129906354	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1250	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)			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)				GAGAGTCGCAGGGTATTTTAG	0.512																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(3748-3750)ccC>ccA		marker of proliferation Ki-67							123.0	124.0	124.0					10																	129906354		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129906354G>T	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.3750C>A	chr10.hg19:g.129906354G>T		0					MKI67_ENST00000368653.3_Silent_p.P890P	p.P1250P	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	4125	-		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)	Q5VWH2	Silent	SNP	ENST00000368654.3	1	1	hg19	c.3750C>A	CCDS7659.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1		20	2	2	0		0	1	122		122	121	1	2.060000	-2.855931	1	0.170000	NM_002417			131	126		626	611	1		1	1		0	0	122	0		1	9.914888e-01	0	13	0	24	0	131	626
MKI67	4288	broad.mit.edu	37	10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1194	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)			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)				TTTCTGCACTGGAGTTCCCAT	0.493																																						ENST00000368654.3	1.000000	0.200000	3.900000e-01	2.500000e-01	0.300000	0.366494	0.300000	0.300000																										0				159						c.(3580-3582)cCa>cTa		marker of proliferation Ki-67							205.0	195.0	198.0					10																	129906523		2203	4300	6503	SO:0001583	missense	4288	0	0					g.chr10:129906523G>A	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.3581C>T	chr10.hg19:g.129906523G>A	ENSP00000357643:p.Pro1194Leu	0					MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	p.P1194L	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	3956	-		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)	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	1	1	hg19	c.3581C>T	CCDS7659.1	0	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523639	0.64747	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.99	3.99	0.46301	3.99	3.99	0.46301	.	1.135460	0.06812	N	0.790500	T	0.13628	0.0330	M	0.74647	2.275	0.46725	D	0.99917	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.947;0.963;0.99	T	0.00783	-1.1568	10	0.40728	T	0.16	.	14.6341	0.68676	0.0:0.0:1.0:0.0	.	1193;834;1194	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1194;834;1193	ENSP00000357643:P1194L;ENSP00000357642:P834L	ENSP00000357642:P834L	P	-	2	0	0	MKI67	129796513	129796513	0.540000	0.26410	0.041000	0.18516	0.057000	0.15508	2.410000	0.44592	1.956000	0.56807	0.462000	0.41574	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1		2	2	2	0		0	0	209		209	208	1	2.060000	-2.188814	0	0.170000	NM_002417			30	29		1147	1127	0		1	0		0	0	209	0		1	1.775293e-01	0	1	0	28	0	30	1147
MKI67	4288	broad.mit.edu	37	10	129907026	129907026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000368653.3_Silent_p.K666K|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1026	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)			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)				CCAGGGATGCCTTCAACTGTT	0.507																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(3076-3078)aaG>aaA		marker of proliferation Ki-67							471.0	460.0	464.0					10																	129907026		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129907026C>T	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.3078G>A	chr10.hg19:g.129907026C>T		0					MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.K666K	p.K1026K	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		13	3453	-		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)	Q5VWH2	Silent	SNP	ENST00000368654.3	1	1	hg19	c.3078G>A	CCDS7659.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1		2	2	2	0		0	0	466		466	463	1	2.060000	-20.000000	1	0.170000	NM_002417			528	521		2010	1953	0		1	1		0	0	466	0		1	9.999750e-01	0	19	0	39	0	528	2010
MKI67	4288	broad.mit.edu	37	10	129913211	129913211	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129913211G>A	ENST00000368654.3	-	7	1836	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	487					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)			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)				CACCAAAGTTGTTGATATCAA	0.378																																						ENST00000368654.3	1.000000	0.230000	5.100000e-01	3.000000e-01	0.380000	0.438616	0.380000	0.370000																										0				159						c.(1459-1461)aaC>aaT		marker of proliferation Ki-67							103.0	104.0	103.0					10																	129913211		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129913211G>A	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.1461C>T	chr10.hg19:g.129913211G>A		0					MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	p.N487N	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		7	1836	-		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)	Q5VWH2	Silent	SNP	ENST00000368654.3	1	1	hg19	c.1461C>T	CCDS7659.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-16.487520	1	0.170000	NM_002417			19	19		584	576	0		1	0		0	0	81	0		9.999895e-01	1.200252e-01	0	0	0	18	0	19	584
ADARB2	105	broad.mit.edu	37	10	1313190	1313190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	384					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)			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)		TATGGCGGGCGTGCATGGGCG	0.537																																						ENST00000381312.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				41						c.(1150-1152)caC>caT		adenosine deaminase, RNA-specific, B2 (non-functional)							91.0	74.0	80.0					10																	1313190		2203	4300	6503	SO:0001819	synonymous_variant	105	0	0					g.chr10:1313190G>A	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.1152C>T	chr10.hg19:g.1313190G>A		0						p.H384H	NM_018702.3	NP_061172.1	1	2	3	2.000167	Q9NS39	RED2_HUMAN		4	1477	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	1	1	hg19	c.1152C>T	CCDS7058.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-2.909656	1	0.170000	NM_018702			23	20		99	92	1		1			0	0	18	0		9.999993e-01	0	0	0	0	0	0	23	99
MKI67	4288	broad.mit.edu	37	10	129914033	129914033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	213					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)			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)				CTCCATAACGGCTCACTAATT	0.388																																						ENST00000368654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(637-639)agC>agT		marker of proliferation Ki-67							90.0	90.0	90.0					10																	129914033		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129914033G>A	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.639C>T	chr10.hg19:g.129914033G>A		0					MKI67_ENST00000368653.3_Intron	p.S213S	NM_002417.4	NP_002408.3	1	2	3	2.008551	P46013	KI67_HUMAN		7	1014	-		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)	Q5VWH2	Silent	SNP	ENST00000368654.3	1	1	hg19	c.639C>T	CCDS7659.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_002417			64	64		304	299	1		1	1		0	0	60	0		1	4.853991e-01	0	5	0	4	0	64	304
EBF3	253738	broad.mit.edu	37	10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000355311.5	-	13	1315	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	EBF3_ENST00000368648.3_Missense_Mutation_p.V406I|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	415					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGCGGGGAACGCTGTACAGC	0.642																																						ENST00000355311.5	1.000000	0.200000	4.100000e-01	2.500000e-01	0.310000	0.374409	0.310000	0.310000																										0				44						c.(1243-1245)Gtt>Att		early B-cell factor 3							206.0	171.0	183.0					10																	131640509		2203	4300	6503	SO:0001583	missense	253738	0	0					g.chr10:131640509C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1243G>A	chr10.hg19:g.131640509C>T	ENSP00000347463:p.Val415Ile	0					MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.V406I	p.V415I			1	2	3	2.008551	Q9H4W6	COE3_HUMAN		13	1315	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	1	1	hg19	c.1243G>A		0	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531062	0.64972	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.111763	0.64402	D	0.000012	T	0.50137	0.1598	M	0.69823	2.125	0.53688	D	0.999971	B	0.30937	0.301	B	0.27170	0.077	T	0.46331	-0.9199	10	0.30078	T	0.28	-17.9183	19.8561	0.96761	0.0:1.0:0.0:0.0	.	406	Q9H4W6-2	.	I	415;406	ENSP00000347463:V415I;ENSP00000357637:V406I	ENSP00000347463:V415I	V	-	1	0	0	EBF3	131530499	131530499	1.000000	0.71417	0.971000	0.41717	0.838000	0.47535	6.018000	0.70811	2.776000	0.95493	0.650000	0.86243	GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	1		2	2	2	0		0	0	171		171	171	1	2.060000	-3.159622	1	0.170000	NM_001005463			23	23		862	855	0		1	0		0	0	171	0		9.999993e-01	7.617539e-04	0	0	0	2	0	23	862
EBF3	253738	broad.mit.edu	37	10	131666130	131666130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000355311.5	-	9	900	c.828G>A	c.(826-828)acG>acA	p.T276T	EBF3_ENST00000368648.3_Silent_p.T267T			Q9H4W6	COE3_HUMAN	early B-cell factor 3	276	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582																																						ENST00000355311.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(826-828)acG>acA		early B-cell factor 3							112.0	91.0	98.0					10																	131666130		2203	4300	6503	SO:0001819	synonymous_variant	253738	0	0					g.chr10:131666130C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.828G>A	chr10.hg19:g.131666130C>T		0					EBF3_ENST00000368648.3_Silent_p.T267T	p.T276T			1	2	3	2.008551	Q9H4W6	COE3_HUMAN		9	900	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	1	1	hg19	c.828G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-2.407291	0	0.170000	NM_001005463			58	57		266	261	1		1	0	0	0	0	64	0		1	8.677645e-02	0	0	0	3	1	58	266
EBF3	253738	broad.mit.edu	37	10	131761748	131761748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131761748C>T	ENST00000355311.5	-	2	246	c.174G>A	c.(172-174)ccG>ccA	p.P58P	EBF3_ENST00000368648.3_Silent_p.P58P			Q9H4W6	COE3_HUMAN	early B-cell factor 3	58					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTTGGAAGGCGGCTGCTTCT	0.672																																						ENST00000355311.5	1.000000	0.170000	5.200000e-01	2.400000e-01	0.350000	0.410618	0.350000	0.320000																										0				44						c.(172-174)ccG>ccA		early B-cell factor 3							40.0	45.0	43.0					10																	131761748		2203	4300	6503	SO:0001819	synonymous_variant	253738	1	121390	29				g.chr10:131761748C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.174G>A	chr10.hg19:g.131761748C>T		0					EBF3_ENST00000368648.3_Silent_p.P58P	p.P58P			1	2	3	2.008551	Q9H4W6	COE3_HUMAN		2	246	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	0	1	hg19	c.174G>A		0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-9.291012	1	0.170000	NM_001005463			9	9		315	311	0		1	0		0	0	43	0		9.940580e-01	0	0	0	0	1	0	9	315
MCM10	55388	broad.mit.edu	37	10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000484800.2	+	18	2515	c.2412C>A	c.(2410-2412)taC>taA	p.Y804*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	804					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512																																						ENST00000484800.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(2410-2412)taC>taA		minichromosome maintenance complex component 10							130.0	111.0	117.0					10																	13246275		2203	4300	6503	SO:0001587	stop_gained	55388	0	0					g.chr10:13246275C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2412C>A	chr10.hg19:g.13246275C>A	ENSP00000418268:p.Tyr804*	0					MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.Y803*	p.Y804*			1	2	3	2.000167	Q7L590	MCM10_HUMAN		18	2515	+			A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	0	1	hg19	c.2412C>A	CCDS7096.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999927	0.93227	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.42	2.55	0.30701	5.42	2.55	0.30701	.	0.488980	0.23155	N	0.051314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.5109	7.6026	0.28085	0.1349:0.7218:0.0:0.1433	.	.	.	.	X	803;804;804;803	.	ENSP00000354945:Y804X	Y	+	3	2	2	MCM10	13286281	13286281	0.985000	0.35326	0.937000	0.37676	0.037000	0.13140	0.472000	0.22116	0.661000	0.30985	-0.169000	0.13324	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_182751			66	66		232	231	1		1	0		0	0	55	0		1	7.366683e-01	0	1	0	10	0	66	232
UCMA	221044	broad.mit.edu	37	10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	2					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602																																						ENST00000378681.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997412	0.990000	1.000000																										0				9						c.(4-6)Act>Cct		upper zone of growth plate and cartilage matrix associated							68.0	54.0	59.0					10																	13276255		2203	4300	6503	SO:0001583	missense	221044	0	0					g.chr10:13276255T>G	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.4A>C	chr10.hg19:g.13276255T>G	ENSP00000367952:p.Thr2Pro	0					UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	p.T2P	NM_145314.1	NP_660357.2	1	2	3	2.000167	Q8WVF2	UCMA_HUMAN		1	76	-				Missense_Mutation	SNP	ENST00000378681.3	1	1	hg19	c.4A>C	CCDS31147.1	1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966081	0.34659	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.08	1.47	0.22746	5.08	1.47	0.22746	.	0.707604	0.14026	N	0.346452	T	0.28101	0.0693	L	0.36672	1.1	0.22280	N	0.999234	B	0.25105	0.118	B	0.26416	0.069	T	0.23691	-1.0181	9	0.46703	T	0.11	1.1185	2.6256	0.04928	0.2076:0.2732:0.0:0.5192	.	2	Q8WVF2	UCMA_HUMAN	P	2	.	ENSP00000367952:T2P	T	-	1	0	0	UCMA	13316261	13316261	0.998000	0.40836	0.984000	0.44739	0.555000	0.35460	0.630000	0.24553	0.008000	0.14787	0.459000	0.35465	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_145314			20	20		135	135	1		1			0	0	29	0		9.999970e-01	0	0	0	0	0	0	20	135
GLRX3	10539	broad.mit.edu	37	10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	314	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GCTGGTGGGAGGATTGGATAT	0.393																																						ENST00000368644.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999833	0.990000	1.000000																										0				13						c.(940-942)Gga>Aga		glutaredoxin 3							127.0	127.0	127.0					10																	131973336		2203	4300	6503	SO:0001583	missense	10539	0	0					g.chr10:131973336G>A	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.940G>A	chr10.hg19:g.131973336G>A	ENSP00000357633:p.Gly314Arg	0					GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	p.G314R	NM_001199868.1	NP_001186797.1	1	2	3	2.008551	O76003	GLRX3_HUMAN		10	962	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	1	1	hg19	c.940G>A	CCDS7661.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253560	0.80135	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29142	1.58;1.58	4.17	4.17	0.49024	4.17	4.17	0.49024	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.85132	0.0975	10	0.87932	D	0	-15.7007	15.2207	0.73308	0.0:0.0:1.0:0.0	.	314	O76003	GLRX3_HUMAN	R	314	ENSP00000330836:G314R;ENSP00000357633:G314R	ENSP00000330836:G314R	G	+	1	0	0	GLRX3	131863326	131863326	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.721000	0.91446	2.171000	0.68590	0.561000	0.74099	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.226969	1	0.170000	NM_006541			31	32		191	189	1		1	1		0	0	44	0		1	1	0	117	0	236	0	31	191
TCERG1L	256536	broad.mit.edu	37	10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512																																						ENST00000368642.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1750-1752)aaA>aaC		transcription elongation regulator 1-like							113.0	110.0	111.0					10																	132891434		2203	4300	6503	SO:0001583	missense	256536	0	0					g.chr10:132891434T>G	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1752A>C	chr10.hg19:g.132891434T>G	ENSP00000357631:p.Lys584Asn	0					RP11-462G8.3_ENST00000436942.1_RNA	p.K584N	NM_174937.3	NP_777597.2	1	2	3	2.008551	Q5VWI1	TCRGL_HUMAN		12	1837	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	1	1	hg19	c.1752A>C	CCDS7662.2	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951676	0.73787	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	4.91	-0.0918	0.13659	4.91	-0.0918	0.13659	.	0.000000	0.53938	D	0.000044	T	0.40398	0.1115	L	0.54323	1.7	0.53688	D	0.999972	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.87932	D	0	-1.323	8.3344	0.32206	0.0:0.332:0.0:0.668	.	584	Q5VWI1	TCRGL_HUMAN	N	584	ENSP00000357631:K584N	ENSP00000357631:K584N	K	-	3	2	2	TCERG1L	132781424	132781424	0.991000	0.36638	0.985000	0.45067	0.984000	0.73092	0.118000	0.15605	-0.280000	0.09154	0.460000	0.39030	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_174937			46	46		234	231	1		1			0	0	62	0		1	0	0	0	0	0	0	46	234
PHYH	5264	broad.mit.edu	37	10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000263038.4	-	8	905	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	PHYH_ENST00000396920.3_Missense_Mutation_p.A266T|PHYH_ENST00000396913.2_Missense_Mutation_p.A183T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	283					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418																																						ENST00000263038.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(847-849)Gcc>Acc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						111.0	98.0	103.0					10																	13323092		2203	4300	6503	SO:0001583	missense	5264	5	121412	34				g.chr10:13323092C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.847G>A	chr10.hg19:g.13323092C>T	ENSP00000263038:p.Ala283Thr	0					PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000396920.3_Missense_Mutation_p.A266T	p.A283T	NM_006214.3	NP_006205.1	1	2	3	2.000167	O14832	PAHX_HUMAN		8	905	-		Ovarian(717;0.0448)	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	1	1	hg19	c.847G>A	CCDS7097.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251918	0.59212	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90133	-2.62;-2.62;-2.62	5.47	4.57	0.56435	5.47	4.57	0.56435	.	0.051774	0.85682	D	0.000000	D	0.94863	0.8340	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.859;0.935	D	0.94949	0.8098	10	0.54805	T	0.06	-13.5846	14.1998	0.65696	0.0:0.9281:0.0:0.0719	.	266;283	B1ALH6;O14832	.;PAHX_HUMAN	T	183;283;266	ENSP00000380121:A183T;ENSP00000263038:A283T;ENSP00000380126:A266T	ENSP00000263038:A283T	A	-	1	0	0	PHYH	13363098	13363098	1.000000	0.71417	0.011000	0.14972	0.115000	0.19883	4.724000	0.61972	1.331000	0.45412	-0.229000	0.12294	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.438029	1	0.170000				52	51		219	218	1		1	1		0	0	57	0		1	1	0	97	0	205	0	52	219
PHYH	5264	broad.mit.edu	37	10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000263038.4	-	6	564	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PHYH_ENST00000396920.3_Missense_Mutation_p.T152M|PHYH_ENST00000396913.2_Missense_Mutation_p.T69M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	169					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542																																						ENST00000263038.4	1.000000	0.250000	6.000000e-01	3.400000e-01	0.450000	0.486889	0.450000	0.430000																										0				25						c.(505-507)aCg>aTg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						73.0	74.0	74.0					10																	13330532		2203	4300	6503	SO:0001583	missense	5264	0	0					g.chr10:13330532G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.506C>T	chr10.hg19:g.13330532G>A	ENSP00000263038:p.Thr169Met	0					PHYH_ENST00000396913.2_Missense_Mutation_p.T69M|PHYH_ENST00000396920.3_Missense_Mutation_p.T152M	p.T169M	NM_006214.3	NP_006205.1	1	2	3	2.000167	O14832	PAHX_HUMAN		6	564	-		Ovarian(717;0.0448)	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	1	1	hg19	c.506C>T	CCDS7097.1	0	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176313	0.78564	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.8	4.89	0.63831	5.8	4.89	0.63831	.	0.046113	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.96017	0.9006	10	0.87932	D	0	-23.7368	11.1462	0.48432	0.0:0.254:0.6126:0.1333	.	152;169	B1ALH6;O14832	.;PAHX_HUMAN	M	69;169;152;69;171	ENSP00000380121:T69M;ENSP00000263038:T169M;ENSP00000380126:T152M;ENSP00000412525:T69M;ENSP00000420117:T171M	ENSP00000263038:T169M	T	-	2	0	0	PHYH	13370538	13370538	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.212000	0.65225	1.444000	0.47605	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-14.170850	1	0.170000				14	14		368	358	0		1	1		0	0	75	0		9.997179e-01	9.989686e-01	0	25	0	280	0	14	368
TCERG1L	256536	broad.mit.edu	37	10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701																																						ENST00000368642.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999961	0.990000	1.000000																										0				31						c.(799-801)cGc>cAc		transcription elongation regulator 1-like							23.0	27.0	25.0					10																	133058578		2202	4300	6502	SO:0001583	missense	256536	3	120980	32				g.chr10:133058578C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.800G>A	chr10.hg19:g.133058578C>T	ENSP00000357631:p.Arg267His	0						p.R267H	NM_174937.3	NP_777597.2	1	2	3	2.008551	Q5VWI1	TCRGL_HUMAN		4	885	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	1	1	hg19	c.800G>A	CCDS7662.2	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090020	0.55968	.	.	ENSG00000176769	ENST00000368642	T	0.22743	1.94	5.2	4.29	0.51040	5.2	4.29	0.51040	.	0.157333	0.45126	D	0.000395	T	0.07548	0.0190	N	0.08118	0	0.23677	N	0.997137	P	0.43314	0.803	B	0.29353	0.101	T	0.25257	-1.0137	10	0.15066	T	0.55	-1.6377	10.7194	0.46032	0.0:0.9105:0.0:0.0895	.	267	Q5VWI1	TCRGL_HUMAN	H	267	ENSP00000357631:R267H	ENSP00000357631:R267H	R	-	2	0	0	TCERG1L	132948568	132948568	0.946000	0.32159	0.850000	0.33497	0.813000	0.45954	0.607000	0.24209	1.168000	0.42723	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_174937			23	23		107	105	1		1			0	0	23	0		9.999996e-01	0	0	0	0	0	0	23	107
BNIP3	664	broad.mit.edu	37	10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000368636.4	-	5	555	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	144					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537																																						ENST00000368636.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(430-432)aGc>aAc		BCL2/adenovirus E1B 19kDa interacting protein 3							77.0	71.0	73.0					10																	133784250		2203	4298	6501	SO:0001583	missense	664	0	0					g.chr10:133784250C>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.431G>A	chr10.hg19:g.133784250C>T	ENSP00000357625:p.Ser144Asn	0					BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	p.S144N	NM_004052.2	NP_004043.2	1	2	3	2.008551	Q12983	BNIP3_HUMAN		5	555	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	1	1	hg19	c.431G>A	CCDS7663.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751290	0.89753	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88300	0.2949	9	0.87932	D	0	-10.6238	17.9813	0.89141	0.0:1.0:0.0:0.0	.	144	Q12983	BNIP3_HUMAN	N	144	.	ENSP00000357625:S144N	S	-	2	0	0	BNIP3	133634240	133634240	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.744000	0.74854	2.423000	0.82170	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000				60	58		209	202	1		1	1		0	0	61	0		1	1	0	79	0	229	0	60	209
JAKMIP3	282973	broad.mit.edu	37	10	133955529	133955529	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	527						Golgi apparatus (GO:0005794)				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)		TGGAGGGACGCTGGACGCAGA	0.657																																						ENST00000298622.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.991211	0.990000	1.000000																										0				31						c.(1579-1581)Ctg>Ttg		Janus kinase and microtubule interacting protein 3							112.0	73.0	86.0					10																	133955529		2202	4297	6499	SO:0001819	synonymous_variant	282973	0	0					g.chr10:133955529C>T	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.1579C>T	chr10.hg19:g.133955529C>T		0						p.L527L	NM_001105521.2	NP_001098991.1	1	2	3	2.008551	Q5VZ66	JKIP3_HUMAN		10	1717	+		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)	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	0	1	hg19	c.1579C>T	CCDS44494.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-15.990220	1	0.170000	NM_194303			8	8		44	44	1		1	0		0	0	13	0		9.913360e-01	3.030303e-02	0	0	0	2	0	8	44
DPYSL4	10570	broad.mit.edu	37	10	134010555	134010555	+	Missense_Mutation	SNP	C	C	A	rs202122121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	ENST00000338492.4	+	6	735	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	191					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)			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)		CATCCGGGACCTGGGGGCCTT	0.682																																						ENST00000338492.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				32						c.(571-573)Ctg>Atg		dihydropyrimidinase-like 4							31.0	30.0	30.0					10																	134010555		2192	4295	6487	SO:0001583	missense	10570	0	0					g.chr10:134010555C>A	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.571C>A	chr10.hg19:g.134010555C>A	ENSP00000339850:p.Leu191Met	0					DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M	p.L191M	NM_006426.2	NP_006417.2	1	2	3	2.008551	O14531	DPYL4_HUMAN		6	735	+		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)	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	0	1	hg19	c.571C>A	CCDS7665.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932821	0.73442	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90676	-2.71;-2.56;-2.56	4.5	4.5	0.54988	4.5	4.5	0.54988	Amidohydrolase 1 (1);	0.000000	0.64402	D	0.000001	D	0.95799	0.8633	M	0.87381	2.88	0.44123	D	0.996904	D	0.89917	1.0	D	0.97110	1.0	D	0.96535	0.9396	10	0.72032	D	0.01	-9.8789	17.0322	0.86464	0.0:1.0:0.0:0.0	.	191	O14531	DPYL4_HUMAN	M	191;114;114	ENSP00000339850:L191M;ENSP00000357618:L114M;ENSP00000357616:L114M	ENSP00000339850:L191M	L	+	1	2	2	DPYSL4	133860545	133860545	0.404000	0.25328	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	2.352000	0.79861	0.585000	0.79938	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000				19	18		74	73	0		1	0		0	0	10	0		9.999948e-01	8.357319e-01	0	0	0	15	0	19	74
DPYSL4	10570	broad.mit.edu	37	10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	267					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)			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)		ATCGCTCAGGCCAAGCGCAGA	0.672																																						ENST00000338492.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(799-801)gCc>gTc		dihydropyrimidinase-like 4							57.0	47.0	51.0					10																	134012464		2201	4300	6501	SO:0001583	missense	10570	0	0					g.chr10:134012464C>T	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.800C>T	chr10.hg19:g.134012464C>T	ENSP00000339850:p.Ala267Val	0					DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V	p.A267V	NM_006426.2	NP_006417.2	1	2	3	2.008551	O14531	DPYL4_HUMAN		8	964	+		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)	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	1	1	hg19	c.800C>T	CCDS7665.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.099403	0.94197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.92545	-3.06;-3.06;-3.06	3.94	3.94	0.45596	3.94	3.94	0.45596	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98832	1.0751	10	0.87932	D	0	-8.8405	16.6038	0.84823	0.0:1.0:0.0:0.0	.	267	O14531	DPYL4_HUMAN	V	267;167;167	ENSP00000339850:A267V;ENSP00000357618:A167V;ENSP00000357616:A167V	ENSP00000339850:A267V	A	+	2	0	0	DPYSL4	133862454	133862454	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.237000	0.78164	2.209000	0.71365	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				58	58		207	203	1		1	0		0	0	28	0		1	5.537442e-01	0	0	0	8	0	58	207
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000368614.3	+	5	570	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000368613.4_Silent_p.L155L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512																																						ENST00000368614.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(463-465)ctC>ctT		leucine rich repeat containing 27							137.0	132.0	134.0					10																	134158066		2203	4300	6503	SO:0001819	synonymous_variant	80313	3	121412	36				g.chr10:134158066C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.465C>T	chr10.hg19:g.134158066C>T		0					LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368613.4_Silent_p.L155L	p.L155L	NM_030626.2	NP_085129.1	1	2	3	2.008551	Q9C0I9	LRC27_HUMAN		5	570	+		all_cancers(35;6.28e-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)	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	1	1	hg19	c.465C>T	CCDS31316.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.447569|1.447569	0.26074|0.26074	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000450442	T|.	0.62941|.	-0.01|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23940|0.23940	-1.0174|-1.0174	6|4	0.49607|.	T|.	0.09|.	-1.6037|-1.6037	9.3344|9.3344	0.38040|0.38040	0.0:0.1366:0.4286:0.4348|0.0:0.1366:0.4286:0.4348	.|.	.|.	.|.	.|.	C|L	136|107	ENSP00000348978:R136C|.	ENSP00000348978:R136C|.	R|S	+|+	1|2	0|0	0|0	LRRC27|LRRC27	134008056|134008056	134008056|134008056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.558000|-1.558000	0.02164|0.02164	-2.268000|-2.268000	0.00685|0.00685	-0.136000|-0.136000	0.14681|0.14681	CGT|TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-3.450577	1	0.170000	XM_290462			105	105		413	406	1		1	1		0	0	94	0		1	9.435132e-01	0	4	0	17	0	105	413
LRRC27	80313	broad.mit.edu	37	10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000368614.3	+	6	983	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463																																						ENST00000368614.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(877-879)gCg>gTg		leucine rich repeat containing 27							88.0	83.0	85.0					10																	134161812		2203	4300	6503	SO:0001583	missense	80313	1	121412	31				g.chr10:134161812C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.878C>T	chr10.hg19:g.134161812C>T	ENSP00000357603:p.Ala293Val	0					LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V	p.A293V	NM_030626.2	NP_085129.1	1	2	3	2.008551	Q9C0I9	LRC27_HUMAN		6	983	+		all_cancers(35;6.28e-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)	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	1	1	hg19	c.878C>T	CCDS31316.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.48836|.	2.51;2.44;2.44;2.4;2.4;4.16;4.16;0.8|.	4.01|4.01	2.09|2.09	0.27110|0.27110	4.01|4.01	2.09|2.09	0.27110|0.27110	.|.	0.228756|.	0.27787|.	N|.	0.017860|.	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.65815|.	0.032;0.995;0.141;0.033;0.131|.	B;P;B;B;B|.	0.59357|.	0.018;0.856;0.042;0.012;0.018|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.45353|.	T|.	0.12|.	-12.7724|-12.7724	4.1531|4.1531	0.10247|0.10247	0.233:0.6465:0.0:0.1206|0.233:0.6465:0.0:0.1206	.|.	293;166;231;293;293|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	V|W	293;293;293;293;293;231;231;166|245	ENSP00000357604:A293V;ENSP00000376413:A293V;ENSP00000342641:A293V;ENSP00000357603:A293V;ENSP00000357602:A293V;ENSP00000357601:A231V;ENSP00000357599:A231V;ENSP00000407949:A166V|.	ENSP00000342641:A293V|.	A|R	+|+	2|1	0|2	0|2	LRRC27|LRRC27	134011802|134011802	134011802|134011802	0.003000|0.003000	0.15002|0.15002	0.128000|0.128000	0.21923|0.21923	0.082000|0.082000	0.17680|0.17680	0.114000|0.114000	0.15520|0.15520	0.964000|0.964000	0.38108|0.38108	0.591000|0.591000	0.81541|0.81541	GCG|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	XM_290462			119	117		517	503	1		1	1		0	0	117	0		1	9.855125e-01	0	8	0	23	0	119	517
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T	rs199929957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368614.3	+	11	1585	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468																																						ENST00000368614.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1480-1482)Cga>Tga		leucine rich repeat containing 27							69.0	70.0	70.0					10																	134188633		2203	4300	6503	SO:0001587	stop_gained	80313	6	121412	41				g.chr10:134188633C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1480C>T	chr10.hg19:g.134188633C>T	ENSP00000357603:p.Arg494*	0					LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*	p.R494*	NM_030626.2	NP_085129.1	1	2	3	2.008551	Q9C0I9	LRC27_HUMAN		11	1585	+		all_cancers(35;6.28e-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)	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	0	1	hg19	c.1480C>T	CCDS31316.1	1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324770	0.60634	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.	.	.	3.44	-2.22	0.06952	3.44	-2.22	0.06952	.	3.434310	0.00988	N	0.003486	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.6575	4.1289	0.10139	0.0:0.3457:0.3364:0.3179	.	.	.	.	X	494;494;432;432	.	ENSP00000357599:R432X	R	+	1	2	2	LRRC27	134038623	134038623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	-0.487000	0.06735	0.591000	0.81541	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	XM_290462			66	66		275	270	1		1	1		0	0	62	0		1	9.183369e-01	0	3	0	17	0	66	275
LRRC27	80313	broad.mit.edu	37	10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T	rs200285895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368614.3	+	11	1684	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552																																						ENST00000368614.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				18						c.(1579-1581)Cgc>Tgc		leucine rich repeat containing 27							58.0	58.0	58.0					10																	134188732		2203	4300	6503	SO:0001583	missense	80313	5	121412	37				g.chr10:134188732C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1579C>T	chr10.hg19:g.134188732C>T	ENSP00000357603:p.Arg527Cys	0					LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C	p.R527C	NM_030626.2	NP_085129.1	1	2	3	2.008551	Q9C0I9	LRC27_HUMAN		11	1684	+		all_cancers(35;6.28e-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)	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	1	1	hg19	c.1579C>T	CCDS31316.1	1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243219	0.22796	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.17528	2.27;2.27;4.03;4.03	3.03	-3.05	0.05396	3.03	-3.05	0.05396	.	.	.	.	.	T	0.07234	0.0183	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	0.33007	-0.9885	9	0.87932	D	0	.	4.3647	0.11218	0.0:0.3271:0.4023:0.2706	.	465;527	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	C	527;527;465;465	ENSP00000357603:R527C;ENSP00000357602:R527C;ENSP00000357601:R465C;ENSP00000357599:R465C	ENSP00000357599:R465C	R	+	1	0	0	LRRC27	134038722	134038722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.603000	0.02077	-0.640000	0.05495	-0.469000	0.05056	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	XM_290462			39	38		212	208	1		1	1		0	0	57	0		1	9.012794e-01	0	6	0	18	0	39	212
PWWP2B	170394	broad.mit.edu	37	10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756																																						ENST00000305233.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999846	0.990000	1.000000																										0				9						c.(331-333)Gcc>Acc		PWWP domain containing 2B							7.0	7.0	7.0					10																	134218335		1698	3287	4985	SO:0001583	missense	170394	5	113894	30				g.chr10:134218335G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.331G>A	chr10.hg19:g.134218335G>A	ENSP00000306324:p.Ala111Thr	0					PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	p.A111T	NM_138499.3	NP_612508.3	1	2	3	2.008551	Q6NUJ5	PWP2B_HUMAN		2	390	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	1	1	hg19	c.331G>A	CCDS7667.2	1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143618	0.01728	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55760	0.5;1.5	3.71	2.72	0.32119	3.71	2.72	0.32119	.	0.363325	0.20623	U	0.088734	T	0.35711	0.0941	L	0.38175	1.15	0.18873	N	0.999989	B	0.17852	0.024	B	0.06405	0.002	T	0.13764	-1.0497	10	0.23302	T	0.38	-1.9873	5.7131	0.17945	0.1733:0.0:0.8267:0.0	.	111	Q6NUJ5	PWP2B_HUMAN	T	111	ENSP00000306324:A111T;ENSP00000357598:A111T	ENSP00000306324:A111T	A	+	1	0	0	PWWP2B	134068325	134068325	0.001000	0.12720	0.069000	0.20011	0.392000	0.30506	-0.086000	0.11233	0.825000	0.34637	0.557000	0.71058	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	1		2	2	2	0		0	0	13		13	8	1	2.060000	-20.000000	1	0.170000	NM_138499			16	16		66	50	0		1	1		0	0	13	0		9.997768e-01	4.900790e-01	0	4	0	4	0	16	66
PWWP2B	170394	broad.mit.edu	37	10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677																																						ENST00000305233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1141-1143)Tct>Cct		PWWP domain containing 2B							39.0	40.0	40.0					10																	134219145		2201	4285	6486	SO:0001583	missense	170394	0	0					g.chr10:134219145T>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1141T>C	chr10.hg19:g.134219145T>C	ENSP00000306324:p.Ser381Pro	0					PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	p.S381P	NM_138499.3	NP_612508.3	1	2	3	2.008551	Q6NUJ5	PWP2B_HUMAN		2	1200	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	1	1	hg19	c.1141T>C	CCDS7667.2	1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889976	0.33348	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.33	4.51	3.27	0.37495	4.51	3.27	0.37495	.	0.085660	0.50627	U	0.000103	T	0.54598	0.1868	L	0.32530	0.975	0.21020	N	0.999802	D	0.71674	0.998	D	0.65773	0.938	T	0.38757	-0.9646	10	0.29301	T	0.29	-10.9623	9.4798	0.38893	0.158:0.0:0.0:0.842	.	381	Q6NUJ5	PWP2B_HUMAN	P	381	ENSP00000306324:S381P;ENSP00000357598:S381P	ENSP00000306324:S381P	S	+	1	0	0	PWWP2B	134069135	134069135	0.972000	0.33761	0.209000	0.23619	0.039000	0.13416	1.739000	0.38217	1.815000	0.52974	0.460000	0.39030	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_138499			116	114		383	377	1		1	1		0	0	66	0		1	9.965893e-01	0	9	0	22	0	116	383
PWWP2B	170394	broad.mit.edu	37	10	134219225	134219225	+	Silent	SNP	C	C	T	rs201982405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17272	0.0		0.001	False		,,,				2504	0.0					ENST00000305233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1219-1221)ctC>ctT		PWWP domain containing 2B							43.0	39.0	41.0					10																	134219225		2200	4296	6496	SO:0001819	synonymous_variant	170394	3	121136	35				g.chr10:134219225C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1221C>T	chr10.hg19:g.134219225C>T		0					PWWP2B_ENST00000368609.4_Silent_p.L407L	p.L407L	NM_138499.3	NP_612508.3	1	2	3	2.008551	Q6NUJ5	PWP2B_HUMAN		2	1280	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	1	1	hg19	c.1221C>T	CCDS7667.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-3.610844	1	0.170000	NM_138499			72	72		291	282	1		1	1		0	0	51	0		1	9.969360e-01	0	15	0	23	0	72	291
INPP5A	3632	broad.mit.edu	37	10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	259					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(775-777)Gac>Aac		inositol polyphosphate-5-phosphatase, 40kDa							72.0	64.0	67.0					10																	134563063		2203	4300	6503	SO:0001583	missense	3632	3	121402	35				g.chr10:134563063G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.775G>A	chr10.hg19:g.134563063G>A	ENSP00000357583:p.Asp259Asn	0					INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	p.D259N	NM_005539.3	NP_005530.3	1	2	3	2.008551	Q14642	I5P1_HUMAN		10	1052	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	1	1	hg19	c.775G>A	CCDS7669.2	1	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148323	0.21288	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50277	0.75;0.75	5.1	5.1	0.69264	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.252635	0.45361	D	0.000366	T	0.50360	0.1611	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	P;P	0.57846	0.733;0.828	T	0.33828	-0.9853	10	0.15066	T	0.55	-37.3962	18.9259	0.92544	0.0:0.0:1.0:0.0	.	259;259	Q14642;Q5T1B5	I5P1_HUMAN;.	N	259;259;176	ENSP00000357583:D259N;ENSP00000357582:D259N	ENSP00000357582:D259N	D	+	1	0	0	INPP5A	134413053	134413053	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	6.871000	0.75531	2.547000	0.85894	0.655000	0.94253	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.324644	1	0.170000	NM_005539			59	59		322	314	1		1	1		0	0	72	0		1	9.999972e-01	0	16	0	88	0	59	322
NKX6-2	84504	broad.mit.edu	37	10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	262					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|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)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677																																						ENST00000368592.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(784-786)aAc>aCc		NK6 homeobox 2							64.0	52.0	56.0					10																	134598469		2195	4297	6492	SO:0001583	missense	84504	0	0					g.chr10:134598469T>G	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.785A>C	chr10.hg19:g.134598469T>G	ENSP00000357581:p.Asn262Thr	0					RP11-288G11.3_ENST00000441365.2_lincRNA	p.N262T	NM_177400.2	NP_796374	1	2	3	2.008551	Q9C056	NKX62_HUMAN		3	888	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	Q5JSF3	Missense_Mutation	SNP	ENST00000368592.5	1	1	hg19	c.785A>C	CCDS7670.1	1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895624	0.33442	.	.	ENSG00000148826	ENST00000368592	T	0.54071	0.59	3.07	1.92	0.25849	3.07	1.92	0.25849	.	0.054125	0.64402	D	0.000001	T	0.42539	0.1207	L	0.60455	1.87	0.53688	D	0.999972	B	0.15473	0.013	B	0.14023	0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-28.5154	5.673	0.17733	0.0:0.0976:0.1703:0.7321	.	262	Q9C056	NKX62_HUMAN	T	262	ENSP00000357581:N262T	ENSP00000357581:N262T	N	-	2	0	0	NKX6-2	134448459	134448459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.931000	0.28871	0.571000	0.29365	0.379000	0.24179	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				46	43		217	213	0		1			0	0	35	0		1	0	0	0	0	0	0	46	217
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000396900.2	-	8	1187	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000341083.3_Silent_p.I345I|BEND7_ENST00000378605.3_Silent_p.I357I			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383																																						ENST00000396900.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998830	0.990000	1.000000																										0				17						c.(1186-1188)atC>atT		BEN domain containing 7							181.0	155.0	164.0					10																	13489312		2203	4300	6503	SO:0001819	synonymous_variant	222389	0	0					g.chr10:13489312G>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1188C>T	chr10.hg19:g.13489312G>A		0					BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000341083.3_Silent_p.I345I|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000486542.1_5'UTR	p.I396I			1	2	3	2.000167	Q8N7W2	BEND7_HUMAN		8	1187	-			Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	1	1	hg19	c.1188C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.017764	1	0.170000	NM_152751			54	54		436	430	1		1	1		0	0	98	0		1	7.785489e-01	0	2	0	23	0	54	436
GPR123	84435	broad.mit.edu	37	10	134884441	134884441	+	Silent	SNP	C	C	T	rs576801168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134884441C>T	ENST00000607359.1	+	1	9	c.9C>T	c.(7-9)ggC>ggT	p.G3G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGATGCGAGGCCACGGGAACC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17204	0.0		0.0	False		,,,				2504	0.0					ENST00000607359.1	1.000000	0.310000	1	5.100000e-01	0.810000	0.776417	0.810000	1.000000																										0				14						c.(7-9)ggC>ggT		G protein-coupled receptor 123							20.0	20.0	20.0					10																	134884441		1566	3571	5137	SO:0001819	synonymous_variant	84435	0	0					g.chr10:134884441C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.9C>T	chr10.hg19:g.134884441C>T		0						p.G3G			1	2	3	2.008551	Q86SQ6	GP123_HUMAN		1	9	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	0	1	hg19	c.9C>T		0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-9.915884	1	0.170000				5	5		75	74	0		1			0	0	21	0		9.375533e-01	0	0	0	0	0	0	5	75
GPR123	84435	broad.mit.edu	37	10	134893885	134893885	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134893885C>A	ENST00000607359.1	+	4	830	c.830C>A	c.(829-831)gCt>gAt	p.A277D				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCTCCAGGGCTGTGGGTAAG	0.682																																						ENST00000607359.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999772	0.990000	1.000000																										0				14						c.(829-831)gCt>gAt		G protein-coupled receptor 123							18.0	20.0	20.0					10																	134893885		1561	3569	5130	SO:0001583	missense	84435	0	0					g.chr10:134893885C>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.830C>A	chr10.hg19:g.134893885C>A	ENSP00000475778:p.Ala277Asp	0						p.A277D			1	2	3	2.008551	Q86SQ6	GP123_HUMAN		4	830	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	0	1	hg19	c.830C>A		1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189542	0.09547	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.4	1.4	0.22301	1.4	1.4	0.22301	.	11.497300	0.01412	U	0.014053	T	0.26159	0.0638	.	.	.	0.31640	N	0.64811	P	0.40302	0.712	B	0.32928	0.155	T	0.35276	-0.9795	7	0.87932	D	0	.	6.2115	0.20631	0.0:1.0:0.0:0.0	.	277	Q86SQ6-1	.	D	277	.	ENSP00000357566:A277D	A	+	2	0	0	GPR123	134743875	134743875	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	-0.059000	0.11731	1.079000	0.41038	0.460000	0.39030	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.998320	1	0.170000				10	10		22	22	0		1			0	0	10	0		9.983743e-01	0	0	0	0	0	0	10	22
GPR123	84435	broad.mit.edu	37	10	134942098	134942098	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000392607.3	+	7	1202	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	GPR123_ENST00000392606.2_Silent_p.L159L|GPR123_ENST00000607359.1_Silent_p.L975L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	256					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701																																						ENST00000392607.3	1.000000	0.540000	1	8.200000e-01	0.990000	0.935834	0.990000	1.000000																										0				14						c.(766-768)Ctg>Ttg		G protein-coupled receptor 123							12.0	12.0	12.0					10																	134942098		2183	4284	6467	SO:0001819	synonymous_variant	84435	0	0					g.chr10:134942098C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.766C>T	chr10.hg19:g.134942098C>T		0					GPR123_ENST00000607359.1_Silent_p.L975L|GPR123_ENST00000392606.2_Silent_p.L159L	p.L256L	NM_001083909.1	NP_001077378.1	1	2	3	2.008551	Q86SQ6	GP123_HUMAN		7	1202	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	0	1	hg19	c.766C>T	CCDS41580.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.350510	1	0.170000				7	7		65	64	0		1			0	0	9	0		9.814892e-01	0	0	0	0	0	0	7	65
GPR123	84435	broad.mit.edu	37	10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000392607.3	+	7	1343	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	GPR123_ENST00000392606.2_Missense_Mutation_p.L206F|GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	303					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682																																						ENST00000392607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(907-909)Ctc>Ttc		G protein-coupled receptor 123							44.0	35.0	38.0					10																	134942239		2197	4287	6484	SO:0001583	missense	84435	0	0					g.chr10:134942239C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.907C>T	chr10.hg19:g.134942239C>T	ENSP00000376384:p.Leu303Phe	0					GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	p.L303F	NM_001083909.1	NP_001077378.1	1	2	3	2.008551	Q86SQ6	GP123_HUMAN		7	1343	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	1	1	hg19	c.907C>T	CCDS41580.1	1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401612	0.62288	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.38722	1.12	4.91	3.98	0.46160	4.91	3.98	0.46160	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.45606	D	0.000345	T	0.48840	0.1522	M	0.69823	2.125	0.58432	D	0.999995	B;B	0.27791	0.09;0.189	B;P	0.45794	0.084;0.493	T	0.38067	-0.9678	10	0.12766	T	0.61	-43.9164	6.9616	0.24599	0.0:0.727:0.1787:0.0943	.	303;1022	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	1022;303;207	ENSP00000376384:L303F	ENSP00000357566:L1022F	L	+	1	0	0	GPR123	134792229	134792229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.313000	0.43735	1.162000	0.42619	0.561000	0.74099	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				46	45		182	181	1		1			0	0	36	0		1	0	0	0	0	0	0	46	182
GPR123	84435	broad.mit.edu	37	10	134942485	134942485	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942485G>C	ENST00000392607.3	+	7	1589	c.1153G>C	c.(1153-1155)Gcc>Ccc	p.A385P	GPR123_ENST00000392606.2_Missense_Mutation_p.A288P|GPR123_ENST00000607359.1_Missense_Mutation_p.A1104P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	385					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCGTGCTGCGCCAAGATGCA	0.721																																						ENST00000392607.3	1.000000	0.350000	1	6.700000e-01	0.990000	0.886351	0.990000	1.000000																										0				14						c.(1153-1155)Gcc>Ccc		G protein-coupled receptor 123							7.0	6.0	6.0					10																	134942485		2088	4118	6206	SO:0001583	missense	84435	0	0					g.chr10:134942485G>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1153G>C	chr10.hg19:g.134942485G>C	ENSP00000376384:p.Ala385Pro	0					GPR123_ENST00000607359.1_Missense_Mutation_p.A1104P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	p.A385P	NM_001083909.1	NP_001077378.1	1	2	3	2.008551	Q86SQ6	GP123_HUMAN		7	1589	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	0	1	hg19	c.1153G>C	CCDS41580.1	1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.664190	0.67700	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.04603	3.59	4.42	3.51	0.40186	4.42	3.51	0.40186	.	0.205916	0.32503	N	0.006010	T	0.16300	0.0392	M	0.64997	1.995	0.53005	D	0.999969	B;D	0.76494	0.112;0.999	B;D	0.70935	0.064;0.971	T	0.00417	-1.1752	10	0.87932	D	0	-29.5881	11.7426	0.51801	0.0:0.0:0.822:0.178	.	385;1104	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	P	1104;385;289	ENSP00000376384:A385P	ENSP00000357566:A1104P	A	+	1	0	0	GPR123	134792475	134792475	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	6.988000	0.76212	1.202000	0.43218	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-8.435924	1	0.170000				3	3		29	27	0		1			0	0	11	0		7.922597e-01	0	0	0	0	0	0	3	29
GPR123	84435	broad.mit.edu	37	10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000392607.3	+	7	2027	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	GPR123_ENST00000392606.2_Missense_Mutation_p.P434S|GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	531					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647																																						ENST00000392607.3	1.000000	0.780000	1	9.900000e-01	0.990000	0.984776	0.990000	1.000000																										0				14						c.(1591-1593)Ccc>Tcc		G protein-coupled receptor 123							19.0	19.0	19.0					10																	134942923		2198	4290	6488	SO:0001583	missense	84435	0	0					g.chr10:134942923C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1591C>T	chr10.hg19:g.134942923C>T	ENSP00000376384:p.Pro531Ser	0					GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	p.P531S	NM_001083909.1	NP_001077378.1	1	2	3	2.008551	Q86SQ6	GP123_HUMAN		7	2027	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	1	1	hg19	c.1591C>T	CCDS41580.1	1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239772	0.22711	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03717	3.83	4.48	3.57	0.40892	4.48	3.57	0.40892	.	1.001760	0.08053	N	0.996883	T	0.03739	0.0106	N	0.24115	0.695	0.23076	N	0.998337	B;B	0.32324	0.015;0.364	B;B	0.24269	0.002;0.052	T	0.45891	-0.9230	10	0.62326	D	0.03	.	12.7013	0.57034	0.0:0.833:0.1669:0.0	.	531;1250	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	1250;531;435	ENSP00000376384:P531S	ENSP00000357566:P1250S	P	+	1	0	0	GPR123	134792913	134792913	1.000000	0.71417	0.108000	0.21378	0.151000	0.21798	1.687000	0.37680	0.995000	0.38917	0.561000	0.74099	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-19.960620	1	0.170000				13	13		100	99	1		1			0	0	35	0		9.996194e-01	0	0	0	0	0	0	13	100
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V|KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	152	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				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)			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)		GACCTCGAGGCGCTGCTGAGC	0.697																																						ENST00000304613.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996390	0.990000	1.000000																										0				60						c.(454-456)gCg>gTg		kinase non-catalytic C-lobe domain (KIND) containing 1							23.0	25.0	25.0					10																	134996942		2198	4296	6494	SO:0001583	missense	85442	2	120700	31				g.chr10:134996942C>T	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.455C>T	chr10.hg19:g.134996942C>T	ENSP00000304437:p.Ala152Val	0					KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V|KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V	p.A152V			1	2	3	2.008551	Q76NI1	VKIND_HUMAN		4	476	+		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)	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	1	1	hg19	c.455C>T	CCDS7674.1	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034408	0.35893	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.74209	-0.82;-0.82;2.17	4.39	0.088	0.14452	4.39	0.088	0.14452	KIND (2);	0.821147	0.10660	N	0.648876	T	0.52645	0.1747	L	0.36672	1.1	0.19300	N	0.99997	B;P	0.35011	0.086;0.48	B;B	0.21151	0.011;0.033	T	0.38757	-0.9646	10	0.36615	T	0.2	-2.8011	1.4725	0.02419	0.1652:0.461:0.1731:0.2008	.	87;152	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	152;152;87	ENSP00000304437:A152V;ENSP00000357561:A152V;ENSP00000357560:A87V	ENSP00000304437:A152V	A	+	2	0	0	KNDC1	134846932	134846932	0.000000	0.05858	0.970000	0.41538	0.924000	0.55760	-0.626000	0.05527	-0.182000	0.10602	0.450000	0.29827	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.500730	1	0.170000	NM_152643			11	11		60	59	1		1	1		0	0	16	0		9.986826e-01	6.336894e-01	0	8	0	5	0	11	60
KNDC1	85442	broad.mit.edu	37	10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T|KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	377					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)			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)		GGGACGGGTTCCCTGTGCAGG	0.672																																						ENST00000304613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1129-1131)Ccc>Acc		kinase non-catalytic C-lobe domain (KIND) containing 1							15.0	18.0	17.0					10																	134999981		2194	4294	6488	SO:0001583	missense	85442	0	0					g.chr10:134999981C>A	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.1129C>A	chr10.hg19:g.134999981C>A	ENSP00000304437:p.Pro377Thr	0					KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T|KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T	p.P377T			1	2	3	2.008551	Q76NI1	VKIND_HUMAN		6	1150	+		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)	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	1	1	hg19	c.1129C>A	CCDS7674.1	1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071987	0.08436	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	3.66	1.72	0.24424	3.66	1.72	0.24424	.	1.960230	0.03115	U	0.163004	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.001	B;B	0.24701	0.055;0.001	T	0.27502	-1.0072	10	0.52906	T	0.07	.	5.4819	0.16729	0.0:0.654:0.2237:0.1223	.	312;377	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	377;377;312	ENSP00000304437:P377T;ENSP00000357561:P377T;ENSP00000357560:P312T	ENSP00000304437:P377T	P	+	1	0	0	KNDC1	134849971	134849971	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.315000	0.19451	0.312000	0.23038	0.538000	0.68166	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_152643			41	40		149	148	1		1	1		0	0	28	0		1	7.658647e-01	0	6	0	6	0	41	149
KNDC1	85442	broad.mit.edu	37	10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y|KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1072				S -> P (in Ref. 1; BAD12625). {ECO:0000305}.	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)			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)		CTGGCCAGGTCCAAAGGGGTC	0.701																																						ENST00000304613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3214-3216)tCc>tAc		kinase non-catalytic C-lobe domain (KIND) containing 1							17.0	21.0	20.0					10																	135015230		2198	4294	6492	SO:0001583	missense	85442	0	0					g.chr10:135015230C>A	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.3215C>A	chr10.hg19:g.135015230C>A	ENSP00000304437:p.Ser1072Tyr	0					KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y|KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y	p.S1072Y			1	2	3	2.008551	Q76NI1	VKIND_HUMAN		17	3236	+		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)	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	1	1	hg19	c.3215C>A	CCDS7674.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832504	0.32421	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.13657	2.57;2.57;2.57	5.06	1.82	0.25136	5.06	1.82	0.25136	.	1.421330	0.04761	N	0.426279	T	0.19685	0.0473	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.852;0.799;0.75	P;B;B	0.52598	0.703;0.263;0.171	T	0.30504	-0.9976	10	0.59425	D	0.04	-5.3684	7.7699	0.29001	0.0:0.6446:0.0:0.3554	.	1072;1007;1072	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	1072;1074;1007	ENSP00000304437:S1072Y;ENSP00000357561:S1074Y;ENSP00000357560:S1007Y	ENSP00000304437:S1072Y	S	+	2	0	0	KNDC1	134865220	134865220	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.016000	0.13377	0.516000	0.28340	0.313000	0.20887	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_152643			34	34		120	117	0		1	1		0	0	18	0		1	1.302414e-01	0	2	0	1	0	34	120
KNDC1	85442	broad.mit.edu	37	10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1391					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)			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)		CAGGGAGGCCGAGGAGGATGC	0.672																																						ENST00000304613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4171-4173)Gag>Aag		kinase non-catalytic C-lobe domain (KIND) containing 1																																				SO:0001583	missense	85442	4	121402	33				g.chr10:135025297G>A	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.4171G>A	chr10.hg19:g.135025297G>A	ENSP00000304437:p.Glu1391Lys	0					KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K	p.E1391K			1	2	3	2.008551	Q76NI1	VKIND_HUMAN		23	4192	+		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)	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	1	1	hg19	c.4171G>A	CCDS7674.1	1	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839178	0.16891	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16897	2.31;2.31	3.13	3.13	0.36017	3.13	3.13	0.36017	Ras guanine nucleotide exchange factor, domain (1);	0.139666	0.46758	U	0.000269	T	0.08802	0.0218	L	0.27053	0.805	0.23747	N	0.996956	P	0.40107	0.703	B	0.30251	0.113	T	0.28713	-1.0035	10	0.19590	T	0.45	-27.3434	10.4476	0.44503	0.0:0.0:1.0:0.0	.	1391	Q76NI1	VKIND_HUMAN	K	1391;1393	ENSP00000304437:E1391K;ENSP00000357561:E1393K	ENSP00000304437:E1391K	E	+	1	0	0	KNDC1	134875287	134875287	0.997000	0.39634	0.436000	0.26797	0.085000	0.17905	3.034000	0.49751	1.713000	0.51359	0.282000	0.19409	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_152643			38	37		154	150	1		1	0		0	0	27	0		1	1.839309e-01	0	1	0	3	0	38	154
KNDC1	85442	broad.mit.edu	37	10	135032456	135032456	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1600	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)			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)		AGGCAGTCCCCTGTGCGTCCC	0.597																																						ENST00000304613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4798-4800)cCt>cAt		kinase non-catalytic C-lobe domain (KIND) containing 1							58.0	67.0	64.0					10																	135032456		2203	4300	6503	SO:0001630	splice_region_variant	85442	0	0					g.chr10:135032456C>A	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.4800+1C>A	chr10.hg19:g.135032456C>A		0					KNDC1_ENST00000368572.2_Splice_Site_p.P1602H	p.P1600H			1	2	3	2.008551	Q76NI1	VKIND_HUMAN		27	4820	+		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)	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	1	0	hg19	c.4799C>A	CCDS7674.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854650	0.71719	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28895	1.59;1.59	4.12	4.12	0.48240	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.056032	0.64402	D	0.000001	T	0.50531	0.1621	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.52906	T	0.07	-11.2166	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1600	Q76NI1	VKIND_HUMAN	H	1600;1602	ENSP00000304437:P1600H;ENSP00000357561:P1602H	ENSP00000304437:P1600H	P	+	2	0	0	KNDC1	134882446	134882446	1.000000	0.71417	0.924000	0.36721	0.374000	0.29953	5.643000	0.67895	2.005000	0.58758	0.561000	0.74099	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.340972	1	0.170000	NM_152643	Missense_Mutation		110	108		476	469	1		1	0		0	0	81	0		1	0	0	1	0	0	0	110	476
VENTX	27287	broad.mit.edu	37	10	135051472	135051472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	18					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			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)		CCAGCTTTGGCTCCGTGGACT	0.726																																						ENST00000325980.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				14						c.(52-54)ggC>ggT		VENT homeobox							8.0	9.0	9.0					10																	135051472		2133	4233	6366	SO:0001819	synonymous_variant	27287	0	0					g.chr10:135051472C>T	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.54C>T	chr10.hg19:g.135051472C>T		0						p.G18G	NM_014468.3	NP_055283.1	1	2	3	2.008551	O95231	VENTX_HUMAN		1	565	+		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)	Q32MZ3	Silent	SNP	ENST00000325980.9	1	1	hg19	c.54C>T	CCDS7675.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_014468			19	19		71	69	0		1			0	0	18	0		9.999949e-01	0	0	0	0	0	0	19	71
VENTX	27287	broad.mit.edu	37	10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			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)		ACCCCCAGGCCTGCCGACTTC	0.716																																						ENST00000325980.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				14						c.(109-111)cCt>cAt		VENT homeobox							5.0	7.0	7.0					10																	135051528		2097	4194	6291	SO:0001583	missense	27287	0	0					g.chr10:135051528C>A	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.110C>A	chr10.hg19:g.135051528C>A	ENSP00000357556:p.Pro37His	0						p.P37H	NM_014468.3	NP_055283.1	1	2	3	2.008551	O95231	VENTX_HUMAN		1	621	+		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)	Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	0	1	hg19	c.110C>A	CCDS7675.1	1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714888	0.30413	.	.	ENSG00000151650	ENST00000325980	T	0.57595	0.39	1.9	1.9	0.25705	1.9	1.9	0.25705	.	0.139797	0.48286	U	0.000196	T	0.38719	0.1051	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.36959	0.237	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.3167	0.26505	0.0:1.0:0.0:0.0	.	37	O95231	VENTX_HUMAN	H	37	ENSP00000357556:P37H	ENSP00000357556:P37H	P	+	2	0	0	VENTX	134901518	134901518	0.001000	0.12720	0.048000	0.18961	0.058000	0.15608	0.204000	0.17335	1.387000	0.46486	0.393000	0.25936	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_014468			16	16		55	54	0		1	0		0	0	10	0		9.999646e-01	5.664569e-02	0	0	0	2	0	16	55
ADAM8	101	broad.mit.edu	37	10	135085191	135085191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	ENST00000445355.3	-	12	1175	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I|ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	375	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGTCACTGAACATCCTGGGGA	0.682																																						ENST00000445355.3	1.000000	0.750000	1	9.900000e-01	0.990000	0.982498	0.990000	1.000000																										0				17						c.(1123-1125)atG>atA		ADAM metallopeptidase domain 8							15.0	18.0	17.0					10																	135085191		2126	4207	6333	SO:0001583	missense	101	0	0					g.chr10:135085191C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1125G>A	chr10.hg19:g.135085191C>T	ENSP00000453302:p.Met375Ile	0					ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I	p.M375I	NM_001109.4	NP_001100.3	1	2	3	2.008551	P78325	ADAM8_HUMAN		12	1175	-		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)	B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	0	1	hg19	c.1125G>A	CCDS31319.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	0	0	0		2	2	2	0		0	0	13		13	7	1	2.060000	-16.430810	1	0.170000	NM_001109			9	3		63	28	0		1	1		0	0	13	0		9.022683e-01	9.847186e-01	0	2	0	54	0	9	63
ADAM8	101	broad.mit.edu	37	10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	230	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672																																						ENST00000445355.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				17						c.(688-690)Gtg>Atg		ADAM metallopeptidase domain 8							66.0	59.0	61.0					10																	135086319		2197	4296	6493	SO:0001583	missense	101	0	0					g.chr10:135086319C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.688G>A	chr10.hg19:g.135086319C>T	ENSP00000453302:p.Val230Met	0					ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M	p.V230M	NM_001109.4	NP_001100.3	1	2	3	2.008551	P78325	ADAM8_HUMAN		8	738	-		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)	B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	1	1	hg19	c.688G>A	CCDS31319.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001109			39	39		197	190	1		1	1		0	0	44	0		1	9.999991e-01	0	12	0	100	0	39	197
TUBGCP2	10844	broad.mit.edu	37	10	135095825	135095825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000252936.3	-	15	2350	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000543663.1_Silent_p.L799L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368563.2_Silent_p.L771L|TUBGCP2_ENST00000368562.1_Silent_p.L364L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	771					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCGCCATCTAATTTCATGCTC	0.582																																						ENST00000252936.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(2311-2313)Tta>Cta		tubulin, gamma complex associated protein 2							20.0	24.0	22.0					10																	135095825		2199	4299	6498	SO:0001819	synonymous_variant	10844	0	0					g.chr10:135095825A>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2311T>C	chr10.hg19:g.135095825A>G		0					TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368563.2_Silent_p.L771L|TUBGCP2_ENST00000543663.1_Silent_p.L799L	p.L771L			1	2	3	2.008551	Q9BSJ2	GCP2_HUMAN		15	2350	-		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)	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	1	1	hg19	c.2311T>C	CCDS7676.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	1	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000				31	29		134	131	1		1	1		0	0	28	0		1	1	0	40	0	162	0	31	134
TUBGCP2	10844	broad.mit.edu	37	10	135095846	135095846	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000252936.3	-	15	2329	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	764					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGTGTAAATTTCTAGGGGGGG	0.587																																						ENST00000252936.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				35						c.(2290-2292)Aaa>Caa		tubulin, gamma complex associated protein 2							20.0	23.0	22.0					10																	135095846		2199	4299	6498	SO:0001630	splice_region_variant	10844	0	0					g.chr10:135095846T>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2290-1A>C	chr10.hg19:g.135095846T>G		0					TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q	p.K764Q			1	2	3	2.008551	Q9BSJ2	GCP2_HUMAN		15	2329	-		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)	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Splice_Site	SNP	ENST00000252936.3	1	0	hg19	c.2290A>C	CCDS7676.1	1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046430	0.19748	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32023	2.48;2.22;2.48;1.47;2.48	4.71	2.24	0.28232	4.71	2.24	0.28232	.	0.115504	0.56097	D	0.000035	T	0.16385	0.0394	N	0.22421	0.69	0.28609	N	0.908782	B;B;B	0.30542	0.284;0.049;0.138	B;B;B	0.23574	0.047;0.021;0.032	T	0.20338	-1.0278	10	0.13108	T	0.6	-21.9772	10.6963	0.45901	0.0:0.0:0.306:0.694	.	792;792;764	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	764;634;764;357;792	ENSP00000252936:K764Q;ENSP00000395666:K634Q;ENSP00000357551:K764Q;ENSP00000357550:K357Q;ENSP00000446093:K792Q	ENSP00000252936:K764Q	K	-	1	0	0	TUBGCP2	134945836	134945836	1.000000	0.71417	0.204000	0.23530	0.281000	0.26958	2.253000	0.43205	0.353000	0.24079	0.459000	0.35465	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		28	27		139	136	1		1	1		0	0	29	0		1	9.999997e-01	0	17	0	114	0	28	139
TUBGCP2	10844	broad.mit.edu	37	10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000252936.3	-	8	1276	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	413					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTCCGCAGCTCGTGCTCCTCG	0.582																																						ENST00000252936.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1237-1239)Gag>Aag		tubulin, gamma complex associated protein 2		C	LYS/GLU	0,4406		0,0,2203	252.0	173.0	200.0		1237	5.6	1.0	10	dbSNP_134	200	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TUBGCP2	NM_006659.2	56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	413/903	135103451	5,13001	2203	4300	6503	SO:0001583	missense	10844	45	121412	48				g.chr10:135103451C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1237G>A	chr10.hg19:g.135103451C>T	ENSP00000252936:p.Glu413Lys	0					TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K	p.E413K			1	2	3	2.008551	Q9BSJ2	GCP2_HUMAN		8	1276	-		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)	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	1	1	hg19	c.1237G>A	CCDS7676.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000465	0.74818	0.0	5.81E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.30448	2.44;2.21;2.44;1.53;2.49	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.21508	0.67	0.80722	D	1	P;P;P	0.48407	0.744;0.604;0.91	B;B;P	0.48795	0.18;0.274;0.59	T	0.01108	-1.1449	10	0.23891	T	0.37	-39.9652	18.667	0.91493	0.0:1.0:0.0:0.0	.	441;441;413	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	K	413;283;413;6;441	ENSP00000252936:E413K;ENSP00000395666:E283K;ENSP00000357551:E413K;ENSP00000357550:E6K;ENSP00000446093:E441K	ENSP00000252936:E413K	E	-	1	0	0	TUBGCP2	134953441	134953441	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.789000	0.69029	2.832000	0.97577	0.655000	0.94253	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.803459	1	0.170000				65	63		245	243	1		1	1		0	0	66	0		1	1	0	45	0	149	0	65	245
ZMYND11	10771	broad.mit.edu	37	10	294415	294415	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000397962.3	+	13	1795	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	456	Interaction with human adenovirus E1A.				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)			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)		CGGAGCACCCAGACCACAAAC	0.502																																						ENST00000397962.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1366-1368)cAg>cGg		zinc finger, MYND-type containing 11							115.0	108.0	111.0					10																	294415		2203	4300	6503	SO:0001583	missense	10771	0	0					g.chr10:294415A>G	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.1367A>G	chr10.hg19:g.294415A>G	ENSP00000381053:p.Gln456Arg	0					ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R	p.Q456R			1	2	3	2.000167	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	13	1795	+		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)	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	1	1	hg19	c.1367A>G	CCDS7052.2	1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745747	0.89663	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.29908	0.895	0.36571	D	0.873003	D;D;P;P;D;P;D;D;P;D	0.59357	0.984;0.984;0.895;0.956;0.984;0.936;0.965;0.985;0.956;0.965	P;P;P;P;P;P;P;P;P;P	0.61201	0.724;0.632;0.452;0.549;0.724;0.885;0.65;0.643;0.549;0.65	T	0.63659	-0.6587	8	0.33940	T	0.23	-31.5843	16.5764	0.84681	1.0:0.0:0.0:0.0	.	416;456;371;401;456;376;385;402;402;425	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	R	456;416;416;456;371;456;376;362;425;416;439;336;251	.	ENSP00000309992:Q416R	Q	+	2	0	0	ZMYND11	284415	284415	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.265000	0.95647	2.371000	0.80710	0.533000	0.62120	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_006624			58	57		323	317	1		1	1		0	0	90	0		1	1	0	37	0	180	0	58	323
DIP2C	22982	broad.mit.edu	37	10	395299	395299	+	Silent	SNP	G	G	A	rs568456386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGTGGTCGCCGTCCTGAA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0					ENST00000280886.6	1.000000	0.430000	9.800000e-01	5.700000e-01	0.740000	0.754049	0.740000	1.000000																										0				81						c.(3079-3081)ggC>ggT		DIP2 disco-interacting protein 2 homolog C (Drosophila)							95.0	69.0	78.0					10																	395299		2203	4300	6503	SO:0001819	synonymous_variant	22982	3	121394	34				g.chr10:395299G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3081C>T	chr10.hg19:g.395299G>A		0						p.G1027G	NM_014974.2	NP_055789.1	1	2	3	2.000167	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	25	3168	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	1	1	hg19	c.3081C>T	CCDS7054.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-18.118550	1	0.170000	NM_014974			15	15		231	228	0		1	1		0	0	41	0		9.998753e-01	8.149777e-01	0	2	0	48	0	15	231
DIP2C	22982	broad.mit.edu	37	10	395334	395334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617																																						ENST00000280886.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				81						c.(3046-3048)Gtg>Atg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							118.0	87.0	97.0					10																	395334		2203	4300	6503	SO:0001583	missense	22982	2	121410	31				g.chr10:395334C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3046G>A	chr10.hg19:g.395334C>T	ENSP00000280886:p.Val1016Met	0						p.V1016M	NM_014974.2	NP_055789.1	1	2	3	2.000167	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	25	3133	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	1	1	hg19	c.3046G>A	CCDS7054.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248310	0.59103	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.18	5.18	0.71444	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.37999	0.1024	L	0.27053	0.805	0.80722	D	1	P	0.38992	0.653	B	0.42112	0.376	T	0.11966	-1.0566	10	0.31617	T	0.26	-26.3503	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	M	1016	ENSP00000280886:V1016M	ENSP00000280886:V1016M	V	-	1	0	0	DIP2C	385334	385334	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	4.918000	0.63376	2.409000	0.81822	0.563000	0.77884	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_014974			43	42		264	261	1		1	1		0	0	64	0		1	9.849222e-01	0	5	0	38	0	43	264
DIP2C	22982	broad.mit.edu	37	10	410353	410353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	813						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577																																						ENST00000280886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2437-2439)gCg>gTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							65.0	66.0	66.0					10																	410353		2203	4300	6503	SO:0001583	missense	22982	1	121406	28				g.chr10:410353G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2438C>T	chr10.hg19:g.410353G>A	ENSP00000280886:p.Ala813Val	0					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V	p.A813V	NM_014974.2	NP_055789.1	1	2	3	2.000167	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	20	2525	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	1	1	hg19	c.2438C>T	CCDS7054.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117828	0.37339	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.39056	2.98;1.1	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.39245	1.2	0.80722	D	1	D;B	0.67145	0.996;0.089	D;B	0.66196	0.942;0.037	T	0.36359	-0.9751	10	0.02654	T	1	-30.4331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	134;813	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	V	813;134	ENSP00000280886:A813V;ENSP00000443826:A134V	ENSP00000280886:A813V	A	-	2	0	0	DIP2C	400353	400353	1.000000	0.71417	0.671000	0.29857	0.184000	0.23303	9.869000	0.99810	2.523000	0.85059	0.455000	0.32223	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-3.118925	1	0.170000	NM_014974			79	77		373	368	1		1	1		0	0	72	0		1	9.915136e-01	0	8	0	29	0	79	373
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	795						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617																																						ENST00000280886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2383-2385)gGc>gAc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							84.0	82.0	83.0					10																	410407		2203	4300	6503	SO:0001583	missense	22982	0	0					g.chr10:410407C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2384G>A	chr10.hg19:g.410407C>T	ENSP00000280886:p.Gly795Asp	0					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D	p.G795D	NM_014974.2	NP_055789.1	1	2	3	2.000167	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	20	2471	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	1	1	hg19	c.2384G>A	CCDS7054.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281958	0.59867	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.25749	3.43;1.78	5.26	5.26	0.73747	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.83275	0.996;0.91	T	0.53063	-0.8491	10	0.02654	T	1	-25.6232	18.871	0.92315	0.0:1.0:0.0:0.0	.	116;795	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	D	795;116	ENSP00000280886:G795D;ENSP00000443826:G116D	ENSP00000280886:G795D	G	-	2	0	0	DIP2C	400407	400407	1.000000	0.71417	0.978000	0.43139	0.678000	0.39670	7.818000	0.86416	2.458000	0.83093	0.305000	0.20034	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_014974			102	102		423	418	1		1	1		0	0	98	0		1	9.999912e-01	0	10	0	61	0	102	423
DIP2C	22982	broad.mit.edu	37	10	410494	410494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	766						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577																																						ENST00000280886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2296-2298)cCg>cTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							52.0	50.0	51.0					10																	410494		2203	4300	6503	SO:0001583	missense	22982	8	121412	39				g.chr10:410494G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2297C>T	chr10.hg19:g.410494G>A	ENSP00000280886:p.Pro766Leu	0					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L	p.P766L	NM_014974.2	NP_055789.1	1	2	3	2.000167	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	20	2384	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	1	1	hg19	c.2297C>T	CCDS7054.1	1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961449	0.34565	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.52295	1.62;0.67	5.31	5.31	0.75309	5.31	5.31	0.75309	AMP-dependent synthetase/ligase (1);	0.055424	0.64402	D	0.000001	T	0.51856	0.1699	M	0.63843	1.955	0.80722	D	1	B;B	0.30973	0.302;0.034	B;B	0.34180	0.177;0.072	T	0.54132	-0.8339	10	0.54805	T	0.06	-22.1795	18.9703	0.92712	0.0:0.0:1.0:0.0	.	87;766	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	L	766;87	ENSP00000280886:P766L;ENSP00000443826:P87L	ENSP00000280886:P766L	P	-	2	0	0	DIP2C	400494	400494	1.000000	0.71417	0.891000	0.34965	0.035000	0.12851	6.746000	0.74866	2.484000	0.83849	0.484000	0.47621	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-2.970093	1	0.170000	NM_014974			53	52		257	255	1		1	1		0	0	64	0		1	9.991490e-01	0	5	0	49	0	53	257
LARP4B	23185	broad.mit.edu	37	10	871234	871234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419					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)			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						ATCGCATGCCGCAGATGAGAT	0.378																																						ENST00000316157.3	1.000000	0.220000	5.100000e-01	2.900000e-01	0.380000	0.426234	0.380000	0.370000																										0				38						c.(1255-1257)Cgg>Tgg		La ribonucleoprotein domain family, member 4B							88.0	94.0	92.0					10																	871234		2203	4300	6503	SO:0001583	missense	23185	2	121412	32				g.chr10:871234G>A	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.1255C>T	chr10.hg19:g.871234G>A	ENSP00000326128:p.Arg419Trp	0						p.R419W	NM_015155.1	NP_055970.1	1	2	3	2.000167	Q92615	LAR4B_HUMAN		12	1295	-			A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	1	1	hg19	c.1255C>T	CCDS31131.1	0	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901055	0.72754	.	.	ENSG00000107929	ENST00000316157	T	0.38240	1.15	5.57	4.67	0.58626	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56601	-0.7952	10	0.87932	D	0	-3.5475	14.4915	0.67654	0.0704:0.0:0.9296:0.0	.	419	Q92615	LAR4B_HUMAN	W	419	ENSP00000326128:R419W	ENSP00000326128:R419W	R	-	1	2	2	LARP4B	861234	861234	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.379000	0.46325	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-2.937911	1	0.170000	NM_015155			16	16		490	483	0		1	1		0	0	89	0		9.999270e-01	9.580185e-01	0	7	0	156	0	16	490
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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)			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)		GTTCTTGGGCGCCACCGACCA	0.692																																						ENST00000381312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(373-375)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							26.0	27.0	26.0					10																	1405926		2203	4298	6501	SO:0001583	missense	105	0	0					g.chr10:1405926G>A	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.374C>T	chr10.hg19:g.1405926G>A	ENSP00000370713:p.Ala125Val	0					RP11-398B16.2_ENST00000432987.1_RNA	p.A125V	NM_018702.3	NP_061172.1	1	2	3	2.000167	Q9NS39	RED2_HUMAN		3	699	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	1	1	hg19	c.374C>T	CCDS7058.1	1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	0	ADARB2	1395926	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-6.219502	1	0.170000	NM_018702			61	58		150	149	0		1			0	0	44	0		1	0	0	0	0	0	0	61	150
PITRM1	10531	broad.mit.edu	37	10	3189841	3189841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000224949.4	-	19	2192	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	720					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592																																						ENST00000224949.4	1.000000	0.780000	1	8.900000e-01	0.990000	0.960088	0.990000	1.000000																										0				33						c.(2158-2160)Ctg>Ttg		pitrilysin metallopeptidase 1							89.0	98.0	95.0					10																	3189841		1970	4164	6134	SO:0001819	synonymous_variant	10531	2	120892	37				g.chr10:3189841G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2158C>T	chr10.hg19:g.3189841G>A		0					PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000451104.2_Silent_p.L622L	p.L720L			1	2	3	2.000167	Q5JRX3	PREP_HUMAN		19	2192	-			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	1	1	hg19	c.2158C>T	CCDS59208.1	1	.	.	.	.	.	.	.	.	.	.	g	0.707	-0.788759	0.02884	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-0.0268	0.13929	5.69	-0.0268	0.13929	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.28860	N	0.895545	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	0.1444	0.00087	0.2899:0.2552:0.2051:0.2499	.	.	.	.	L	53	.	.	P	-	2	0	0	PITRM1	3179841	3179841	0.855000	0.29742	0.305000	0.25099	0.020000	0.10135	-0.105000	0.10907	0.337000	0.23665	0.561000	0.74099	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-2.966611	1	0.170000				61	61		656	649	1		1	1		0	0	116	0		1	9.983514e-01	0	12	0	91	0	61	656
PITRM1	10531	broad.mit.edu	37	10	3191914	3191914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000224949.4	-	16	1804	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1_ENST00000464395.1_5'Flank|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	590					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478																																						ENST00000224949.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1768-1770)caG>caA		pitrilysin metallopeptidase 1							115.0	119.0	118.0					10																	3191914		1908	4128	6036	SO:0001819	synonymous_variant	10531	0	0					g.chr10:3191914C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1770G>A	chr10.hg19:g.3191914C>T		0					PITRM1_ENST00000464395.1_5'Flank|PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1_ENST00000451104.2_Silent_p.Q558Q	p.Q590Q			1	2	3	2.000167	Q5JRX3	PREP_HUMAN		16	1804	-			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	1	1	hg19	c.1770G>A	CCDS59208.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	0	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000				118	116		569	557	0		1	1		0	0	146	0		1	9.999999e-01	0	28	0	86	0	118	569
PITRM1	10531	broad.mit.edu	37	10	3205979	3205979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000224949.4	-	7	763	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	243					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483																																						ENST00000224949.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(727-729)ccG>ccA		pitrilysin metallopeptidase 1							127.0	127.0	127.0					10																	3205979		1962	4156	6118	SO:0001819	synonymous_variant	10531	1	120880	34				g.chr10:3205979C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.729G>A	chr10.hg19:g.3205979C>T		0					PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.P211P	p.P243P			1	2	3	2.000167	Q5JRX3	PREP_HUMAN		7	763	-			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	1	1	hg19	c.729G>A	CCDS59208.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	0		2	2	2	0		0	0	109		109	107	1	2.060000	-2.637208	1	0.170000				67	67		314	313	1		1	1		0	0	109	0		1	1	0	23	0	102	0	67	314
PITRM1	10531	broad.mit.edu	37	10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000224949.4	-	7	691	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	219					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423																																						ENST00000224949.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(655-657)caG>caT		pitrilysin metallopeptidase 1							124.0	119.0	121.0					10																	3206051		1924	4122	6046	SO:0001583	missense	10531	0	0					g.chr10:3206051C>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.657G>T	chr10.hg19:g.3206051C>A	ENSP00000224949:p.Gln219His	0					PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H	p.Q219H			1	2	3	2.000167	Q5JRX3	PREP_HUMAN		7	691	-			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	1	1	hg19	c.657G>T	CCDS59208.1	1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386149	0.61956	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.33438	1.41;1.41;1.41	5.7	5.7	0.88788	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B	0.28880	0.092;0.102;0.18;0.113;0.113;0.226	B;B;B;B;B;B	0.32211	0.017;0.043;0.142;0.067;0.067;0.106	T	0.06006	-1.0851	10	0.19590	T	0.45	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;187;219;219;219;212	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	219;212;219;187	ENSP00000224949:Q219H;ENSP00000370377:Q219H;ENSP00000401201:Q187H	ENSP00000224949:Q219H	Q	-	3	2	2	PITRM1	3196051	3196051	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.273000	0.43381	2.698000	0.92095	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	0		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000				44	44		174	174	1		1	1		0	0	63	0		1	9.999963e-01	0	23	0	56	0	44	174
KLF6	1316	broad.mit.edu	37	10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000469435.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	206					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(616-618)gGc>gAc		Kruppel-like factor 6							67.0	57.0	60.0					10																	3823892		2203	4300	6503	SO:0001583	missense	1316	0	0					g.chr10:3823892C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.617G>A	chr10.hg19:g.3823892C>T	ENSP00000419923:p.Gly206Asp	0		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000469435.1_Missense_Mutation_p.G206D|KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron	p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	1	2	3	2.000167	Q99612	KLF6_HUMAN		2	877	-			B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	1	1	hg19	c.617G>A	CCDS7060.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497189	0.85069	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.76839	1.31;-1.05;-1.05	4.78	4.78	0.61160	4.78	4.78	0.61160	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	0.80670	0.4667	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.757	D	0.83488	0.0068	10	0.56958	D	0.05	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	206;206;206	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	D	206	ENSP00000419923:G206D;ENSP00000445301:G206D;ENSP00000419079:G206D	ENSP00000419079:G206D	G	-	2	0	0	KLF6	3813892	3813892	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.194000	0.70268	0.462000	0.41574	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				64	62		284	279	1		1	1		0	0	56	0		1	1	0	118	0	270	0	64	284
AKR1C1	1645	broad.mit.edu	37	10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	248					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|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)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GGCAAAAAAGCACAAGCGAAC	0.597																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(742-744)Cac>Tac		aldo-keto reductase family 1, member C1	Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)						67.0	73.0	71.0					10																	5014837		2203	4299	6502	SO:0001583	missense	1645	0	0					g.chr10:5014837C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.742C>T	chr10.hg19:g.5014837C>T	ENSP00000370254:p.His248Tyr	0					AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y	p.H248Y	NM_001353.5	NP_001344.2	1	2	3	2.000167	Q04828	AK1C1_HUMAN		7	934	+			P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	1	1	hg19	c.742C>T	CCDS7061.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.885545	0.00532	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.50277	0.75;0.75	1.97	-0.0292	0.13919	1.97	-0.0292	0.13919	NADP-dependent oxidoreductase domain (3);	0.510657	0.19036	N	0.124408	T	0.15739	0.0379	N	0.01686	-0.76	0.34677	D	0.724286	B	0.15473	0.013	B	0.26693	0.072	T	0.24835	-1.0149	10	0.07482	T	0.82	.	4.8837	0.13692	0.0:0.4389:0.0:0.5611	.	248	Q04828	AK1C1_HUMAN	Y	248	ENSP00000412248:H248Y;ENSP00000370254:H248Y	ENSP00000370254:H248Y	H	+	1	0	0	AKR1C1	5004837	5004837	0.976000	0.34144	0.060000	0.19600	0.317000	0.28152	0.882000	0.28186	-0.016000	0.14127	0.305000	0.20034	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	0	0	1		2	2	2	0		0	0	84		84	124	1	2.060000	-20.000000	1	0.170000	NM_001353			93	86		367	312	0		1	0		0	0	84	0		1	8.619699e-01	0	0	0	16	0	93	367
AKR1C3	8644	broad.mit.edu	37	10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	301					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)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GGCCTAGACAGAAATCTCCAC	0.358																																						ENST00000380554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(901-903)aGa>aAa		aldo-keto reductase family 1, member C3	Bimatoprost(DB00905)|Doxorubicin(DB00997)						106.0	109.0	108.0					10																	5147842		2203	4300	6503	SO:0001583	missense	8644	0	0					g.chr10:5147842G>A	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.902G>A	chr10.hg19:g.5147842G>A	ENSP00000369927:p.Arg301Lys	0					AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K	p.R301K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	1	2	3	2.000167	P42330	AK1C3_HUMAN		8	1554	+			A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	1	1	hg19	c.902G>A	CCDS7063.1	1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443841	0.12164	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.50548	0.74;0.74	2.63	1.65	0.23941	2.63	1.65	0.23941	NADP-dependent oxidoreductase domain (2);	0.425790	0.21143	N	0.079453	T	0.19167	0.0460	N	0.02539	-0.55	0.29636	N	0.845116	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17979	0.02;0.014;0.008	T	0.18398	-1.0338	10	0.21014	T	0.42	.	7.7877	0.29101	0.1407:0.0:0.8593:0.0	.	182;301;301	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	K	182;301	ENSP00000401327:R182K;ENSP00000369927:R301K	ENSP00000369927:R301K	R	+	2	0	0	AKR1C3	5137842	5137842	1.000000	0.71417	0.016000	0.15963	0.046000	0.14306	1.844000	0.39269	0.391000	0.25143	0.491000	0.48974	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.999940	1	0.170000	NM_003739			38	37		152	148	1		1	1		0	0	28	0		1	1	0	280	0	361	0	38	152
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGTAATATTCGACACAGTGG	0.448																																						ENST00000380448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F139F(1)	large_intestine(1)	18						c.(415-417)ttC>ttT		aldo-keto reductase family 1, member C4							139.0	118.0	125.0					10																	5247767		2203	4300	6503	SO:0001819	synonymous_variant	1109	2	121412	32				g.chr10:5247767C>T	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.417C>T	chr10.hg19:g.5247767C>T		0					AKR1C4_ENST00000263126.1_Silent_p.F139F	p.F139F			1	2	3	2.000167	P17516	AK1C4_HUMAN		6	670	+			Q5T6A3|Q8WW84|Q9NS54	Silent	SNP	ENST00000380448.1	1	1	hg19	c.417C>T	CCDS7064.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.395152	1	0.170000	NM_001818			55	54		227	220	1		1	1		0	0	72	0		1	3.943662e-02	0	2	0	0	0	55	227
TUBAL3	79861	broad.mit.edu	37	10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	339					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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557																																						ENST00000380419.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1015-1017)Atc>Ctc		tubulin, alpha-like 3							98.0	87.0	90.0					10																	5435806		2203	4300	6503	SO:0001583	missense	79861	0	0					g.chr10:5435806T>G	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.1015A>C	chr10.hg19:g.5435806T>G	ENSP00000369784:p.Ile339Leu	0					TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	p.I339L	NM_024803.2	NP_079079.1	1	2	3	2.000167	A6NHL2	TBAL3_HUMAN		4	1052	-			B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	1	1	hg19	c.1015A>C	CCDS7066.2	1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718580	0.48622	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.81078	-1.45;-1.45	4.41	4.41	0.53225	4.41	4.41	0.53225	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.89846	0.6833	M	0.83603	2.65	0.45307	D	0.998303	P;P	0.46784	0.884;0.766	D;D	0.79784	0.993;0.987	D	0.91185	0.4979	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.0:0.0:1.0	.	299;339	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	339;299	ENSP00000369784:I339L;ENSP00000418799:I299L	ENSP00000369784:I339L	I	-	1	0	0	TUBAL3	5425806	5425806	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	7.851000	0.86920	1.949000	0.56562	0.528000	0.53228	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_024803			44	43		200	198	1		1	1		0	0	44	0		1	6.671647e-01	0	7	0	5	0	44	200
NET1	10276	broad.mit.edu	37	10	5498209	5498209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	ENST00000355029.4	+	11	1499	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	453	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)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGCTCCTTTCGAGGAGCTTT	0.448																																						ENST00000355029.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				23						c.(1357-1359)Cga>Tga		neuroepithelial cell transforming 1							44.0	44.0	44.0					10																	5498209		2203	4300	6503	SO:0001587	stop_gained	10276	1	121400	19				g.chr10:5498209C>T	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.1357C>T	chr10.hg19:g.5498209C>T	ENSP00000347134:p.Arg453*	0					NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*	p.R453*	NM_001047160.2	NP_001040625.1	1	2	3	2.000167	Q7Z628	ARHG8_HUMAN		11	1499	+			Q12773|Q96D82|Q99903|Q9UEN6	Nonsense_Mutation	SNP	ENST00000355029.4	0	1	hg19	c.1357C>T	CCDS41483.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.539833	0.97650	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	.	.	.	5.64	4.67	0.58626	5.64	4.67	0.58626	.	0.000000	0.34628	N	0.003815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.343	12.8877	0.58053	0.2509:0.7491:0.0:0.0	.	.	.	.	X	453;272;399	.	ENSP00000347134:R453X	R	+	1	2	2	NET1	5488209	5488209	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	2.854000	0.48325	2.652000	0.90054	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	0	0	1		15	15	2	1		1	1	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_005863			33	33		168	169	0		1	1		1	0	47	0		9.984262e-01	9.989454e-01	0	90	0	117	0	33	168
CALML3	810	broad.mit.edu	37	10	5566985	5566985	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5566985G>A	ENST00000315238.1	+	0	62				CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3							extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CAGCAGCCGGGCTGCGGCACT	0.682																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				5								calmodulin-like 3																																						810	0	0					g.chr10:5566985G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597		chr10.hg19:g.5566985G>A		0					RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000543008.1_RNA		NM_005185.2	NP_005176.1	1	2	3	2.000167	P27482	CALL3_HUMAN		0	62	+			B2R9V6|Q5SQI4	Translation_Start_Site	SNP	ENST00000315238.1	0	1	hg19		CCDS7069.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_005185			19	19		59	59	0		1			0	0	13	0		9.999966e-01	0	0	0	0	0	0	19	59
GDI2	2665	broad.mit.edu	37	10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	286					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468																																						ENST00000380191.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(856-858)tAc>tGc		GDP dissociation inhibitor 2							98.0	87.0	91.0					10																	5810310		2203	4300	6503	SO:0001583	missense	2665	0	0					g.chr10:5810310T>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.857A>G	chr10.hg19:g.5810310T>C	ENSP00000369538:p.Tyr286Cys	0					GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C	p.Y286C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	1	2	3	2.000167	P50395	GDIB_HUMAN		8	1147	-			O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	0	1	hg19	c.857A>G	CCDS7071.1	1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705581	0.68615	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.993;0.981;0.997	D	0.97490	1.0053	10	0.87932	D	0	-20.6714	16.1557	0.81666	0.0:0.0:0.0:1.0	.	290;241;286	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	C	286;119;114;290;241	ENSP00000369538:Y286C;ENSP00000387565:Y114C;ENSP00000369475:Y290C;ENSP00000369528:Y241C	ENSP00000369475:Y290C	Y	-	2	0	0	GDI2	5850316	5850316	1.000000	0.71417	0.932000	0.37286	0.354000	0.29330	7.919000	0.87513	2.291000	0.77112	0.533000	0.62120	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_001494			52	51		206	202	1		1	1		0	0	43	0		1	1	0	220	0	855	0	52	206
FBXO18	84893	broad.mit.edu	37	10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000362091.4	+	2	168	c.53C>T	c.(52-54)gCt>gTt	p.A18V	FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Missense_Mutation_p.A69V|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	18					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473																																						ENST00000362091.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(52-54)gCt>gTt		F-box protein, helicase, 18		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105.0	92.0	96.0		206,53	5.4	1.0	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/1095,18/1044	5945034	1,13005	2203	4300	6503	SO:0001583	missense	84893	0	0					g.chr10:5945034C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.53C>T	chr10.hg19:g.5945034C>T	ENSP00000355415:p.Ala18Val	0					FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.A69V	p.A18V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	1	2	3	2.000167	Q8NFZ0	FBX18_HUMAN		2	168	+			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	1	1	hg19	c.53C>T	CCDS7072.1	1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690765	0.48097	0.0	1.16E-4	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.313315	0.32372	N	0.006184	T	0.50103	0.1596	L	0.53249	1.67	0.80722	D	1	P;B	0.38827	0.649;0.376	B;B	0.33454	0.164;0.079	T	0.56505	-0.7968	9	0.59425	D	0.04	-9.9585	12.1561	0.54077	0.0:0.9177:0.0:0.0823	.	69;18	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	V	18;69	.	ENSP00000355415:A18V	A	+	2	0	0	FBXO18	5985040	5985040	0.064000	0.20934	0.997000	0.53966	0.328000	0.28507	1.720000	0.38022	2.536000	0.85505	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_032807			48	44		209	205	1		1	1		0	0	58	0		1	9.997813e-01	0	13	0	45	0	48	209
FBXO18	84893	broad.mit.edu	37	10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000362091.4	+	3	630	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.R223Q|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	172	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22567	0.0		0.0	False		,,,				2504	0.0					ENST00000362091.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.990466	0.990000	1.000000																										0				40						c.(514-516)cGg>cAg		F-box protein, helicase, 18		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	61.0	52.0	55.0		668,515	-5.5	0.0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	223/1095,172/1044	5948357	2,13004	2203	4300	6503	SO:0001583	missense	84893	10	121412	40				g.chr10:5948357G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.515G>A	chr10.hg19:g.5948357G>A	ENSP00000355415:p.Arg172Gln	0					FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.R223Q	p.R172Q	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	1	2	3	2.000167	Q8NFZ0	FBX18_HUMAN		3	630	+			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	1	1	hg19	c.515G>A	CCDS7072.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.039	-1.292831	0.01375	4.54E-4	0.0	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.52	-5.47	0.02600	5.52	-5.47	0.02600	.	1.774100	0.02188	N	0.061094	T	0.12433	0.0302	N	0.01576	-0.805	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32613	-0.9900	9	0.08179	T	0.78	1.2348	9.6318	0.39785	0.669:0.0:0.2333:0.0977	.	223;172;98	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	172;223	.	ENSP00000355415:R172Q	R	+	2	0	0	FBXO18	5988363	5988363	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.453000	0.06778	-1.020000	0.03354	-0.136000	0.14681	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_032807			23	22		188	181	1		1	1		0	0	28	0		9.999993e-01	9.999896e-01	0	13	0	145	0	23	188
PFKFB3	5209	broad.mit.edu	37	10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	518	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACTCCTCCAGGAAACACTGA	0.517																																						ENST00000379775.4	1.000000	0.260000	5.100000e-01	3.300000e-01	0.400000	0.445352	0.400000	0.390000																										0				22						c.(1552-1554)aGg>aTg		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							154.0	154.0	154.0					10																	6274895		2203	4300	6503	SO:0001583	missense	5209	0	0					g.chr10:6274895G>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1553G>T	chr10.hg19:g.6274895G>T	ENSP00000369100:p.Arg518Met	0					PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000379785.1_3'UTR	p.R518M	NM_004566.3	NP_004557.1	1	2	3	2.000167	Q16875	F263_HUMAN		15	1883	+			B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	1	1	hg19	c.1553G>T	CCDS7078.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.032|6.032	0.374222|0.374222	0.11409|0.11409	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379775;ENST00000441697	.|.	.|.	.|.	4.95|4.95	3.07|3.07	0.35406|0.35406	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B	.|0.28512	.|0.214;0.07;0.025	.|B;B;B	.|0.28784	.|0.094;0.058;0.058	T|T	0.19289|0.19289	-1.0310|-1.0310	5|8	.|0.72032	.|D	.|0.01	.|.	6.9535|6.9535	0.24558|0.24558	0.2159:0.0:0.7841:0.0|0.2159:0.0:0.7841:0.0	.|.	.|532;518;498	.|B7Z955;Q16875;Q5VX15	.|.;F263_HUMAN;.	H|M	140|498;186;532;518;29	.|.	.|ENSP00000369100:R518M	Q|R	+|+	3|2	2|0	2|0	PFKFB3|PFKFB3	6314901|6314901	6314901|6314901	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.074000|0.074000	0.17049|0.17049	1.467000|1.467000	0.35321|0.35321	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	CAG|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1	0	0	1		2	2	2	0		0	0	170		170	170	1	2.060000	-2.767608	1	0.170000				25	25		714	709	0		1	1	0	0	0	170	0		9.999998e-01	9.653559e-01	0	12	0	146	1	25	714
SFMBT2	57713	broad.mit.edu	37	10	7230594	7230594	+	Silent	SNP	C	C	T	rs373706082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	600					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			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						ACTTGGCCTTCAGCGTCTCTT	0.443																																						ENST00000361972.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1798-1800)ctG>ctA		Scm-like with four mbt domains 2							102.0	99.0	100.0					10																	7230594		2203	4300	6503	SO:0001819	synonymous_variant	57713	0	0					g.chr10:7230594C>T	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.1800G>A	chr10.hg19:g.7230594C>T		0					SFMBT2_ENST00000397167.1_Silent_p.L600L	p.L600L	NM_001018039.1	NP_001018049.1	1	2	3	2.000167	Q5VUG0	SMBT2_HUMAN		16	1890	-			A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	1	1	hg19	c.1800G>A	CCDS31138.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.455851	1	0.170000	NM_001029880			50	48		222	214	1		1	0		0	0	73	0		1	8.193300e-01	0	0	0	16	0	50	222
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V490V(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						CTGGTTGCACGACTGCAATCT	0.398																																						ENST00000361972.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V490V(1)	large_intestine(1)	99						c.(1468-1470)gtC>gtT		Scm-like with four mbt domains 2							168.0	142.0	151.0					10																	7244459		2203	4300	6503	SO:0001819	synonymous_variant	57713	1	121412	27				g.chr10:7244459G>A	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.1470C>T	chr10.hg19:g.7244459G>A		0					SFMBT2_ENST00000397167.1_Silent_p.V490V	p.V490V	NM_001018039.1	NP_001018049.1	1	2	3	2.000167	Q5VUG0	SMBT2_HUMAN		13	1560	-			A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	1	1	hg19	c.1470C>T	CCDS31138.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.371847	1	0.170000	NM_001029880			66	66		312	307	1		1	0		0	0	70	0		1	7.303035e-01	0	0	0	14	0	66	312
SFMBT2	57713	broad.mit.edu	37	10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	348					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			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						GCATGGCACAGCATTGACAGT	0.408																																						ENST00000361972.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1042-1044)Ctg>Atg		Scm-like with four mbt domains 2							87.0	82.0	84.0					10																	7285598		2203	4300	6503	SO:0001583	missense	57713	0	0					g.chr10:7285598G>T	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.1042C>A	chr10.hg19:g.7285598G>T	ENSP00000355109:p.Leu348Met	0					SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	p.L348M	NM_001018039.1	NP_001018049.1	1	2	3	2.000167	Q5VUG0	SMBT2_HUMAN		9	1132	-			A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	1	1	hg19	c.1042C>A	CCDS31138.1	1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470197	0.43839	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.33216	1.42;1.42	5.54	2.55	0.30701	5.54	2.55	0.30701	.	0.065062	0.64402	D	0.000007	T	0.50360	0.1611	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42749	-0.9433	10	0.51188	T	0.08	.	7.4248	0.27092	0.1495:0.0:0.7159:0.1346	.	348	Q5VUG0	SMBT2_HUMAN	M	348	ENSP00000355109:L348M;ENSP00000380353:L348M	ENSP00000355109:L348M	L	-	1	2	2	SFMBT2	7325604	7325604	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	2.717000	0.47227	0.323000	0.23307	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_001029880			57	56		266	259	1		1	0		0	0	71	0		1	2.201582e-01	0	0	0	5	0	57	266
SFMBT2	57713	broad.mit.edu	37	10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R178*(2)		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						CCTTTCCCTCGCAGAGGCTGT	0.368																																						ENST00000361972.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998600	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R178*(2)	skin(2)	99						c.(532-534)Cga>Tga		Scm-like with four mbt domains 2							63.0	63.0	63.0					10																	7326106		2202	4298	6500	SO:0001587	stop_gained	57713	0	0					g.chr10:7326106G>A	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.532C>T	chr10.hg19:g.7326106G>A	ENSP00000355109:p.Arg178*	0					SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	p.R178*	NM_001018039.1	NP_001018049.1	1	2	3	2.000167	Q5VUG0	SMBT2_HUMAN		6	622	-			A7MD09|Q9HCF5	Nonsense_Mutation	SNP	ENST00000361972.4	0	1	hg19	c.532C>T	CCDS31138.1	1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353451	0.82243	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	4.45	4.45	0.53987	.	0.063541	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000355109:R178X	R	-	1	2	2	SFMBT2	7366112	7366112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.897000	0.56273	2.195000	0.70347	0.431000	0.28591	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-18.071280	1	0.170000	NM_001029880			51	51		412	406	1		1	0		0	0	86	0		1	1.392472e-01	0	0	0	6	0	51	412
ITIH5	80760	broad.mit.edu	37	10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	921					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TGCCAGGTAATCCTTGTACTC	0.512																																						ENST00000256861.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2761-2763)gAt>gCt		inter-alpha-trypsin inhibitor heavy chain family, member 5							191.0	162.0	172.0					10																	7605113		2203	4300	6503	SO:0001583	missense	80760	0	0					g.chr10:7605113T>G			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.2762A>C	chr10.hg19:g.7605113T>G	ENSP00000256861:p.Asp921Ala	0					ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A|ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000397146.2_Intron	p.D921A	NM_030569.6	NP_085046.5	1	2	3	2.000167	Q86UX2	ITIH5_HUMAN		14	2840	-			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	1	1	hg19	c.2762A>C		1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088393	0.55968	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03580	4.08;3.88;3.91	5.79	4.66	0.58398	5.79	4.66	0.58398	.	0.198444	0.51477	D	0.000086	T	0.12689	0.0308	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.57324	0.662;0.818	T	0.00299	-1.1836	9	0.87932	D	0	-16.5541	11.7484	0.51835	0.0:0.0689:0.0:0.9311	.	921;707	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	A	921;707;703	ENSP00000256861:D921A;ENSP00000298441:D707A;ENSP00000387969:D703A	ENSP00000256861:D921A	D	-	2	0	0	ITIH5	7645119	7645119	1.000000	0.71417	0.053000	0.19242	0.140000	0.21249	5.835000	0.69368	1.023000	0.39654	0.528000	0.53228	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_030569			170	164		701	688	1		1	0		0	0	157	0		1	1	0	0	0	153	0	170	701
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R487H(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						ATAATCGATGCGGATGTCAGA	0.592																																						ENST00000256861.6	1.000000	0.610000	1	7.400000e-01	0.900000	0.884944	0.900000	1.000000																										1	Substitution - Missense(1)	p.R487H(1)	large_intestine(1)	75						c.(1459-1461)cGc>cAc		inter-alpha-trypsin inhibitor heavy chain family, member 5		C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	71.0	69.0	69.0		1460,1460,818	2.7	0.5	10	dbSNP_132	69	0,8600		0,0,4300	yes	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	487/703,487/943,273/729	7618934	4,13002	2203	4300	6503	SO:0001583	missense	80760	12	121412	40				g.chr10:7618934C>T			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.1460G>A	chr10.hg19:g.7618934C>T	ENSP00000256861:p.Arg487His	0					ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H	p.R487H	NM_030569.6	NP_085046.5	1	2	3	2.000167	Q86UX2	ITIH5_HUMAN		10	1538	-			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	1	1	hg19	c.1460G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	0	ITIH5	7658940	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-3.221881	1	0.170000	NM_030569			28	28		343	341	0		1	0		0	0	82	0		1	9.996085e-01	0	0	0	150	0	28	343
ITIH5	80760	broad.mit.edu	37	10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	116	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						CACCACTCTTCTTTTCTCTCT	0.373																																						ENST00000256861.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				75						c.(346-348)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain family, member 5							260.0	252.0	255.0					10																	7682770		2203	4300	6503	SO:0001583	missense	80760	0	0					g.chr10:7682770C>A			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.348G>T	chr10.hg19:g.7682770C>A	ENSP00000256861:p.Lys116Asn	0					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N	p.K116N	NM_030569.6	NP_085046.5	1	2	3	2.000167	Q86UX2	ITIH5_HUMAN		4	426	-			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	1	1	hg19	c.348G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945221	0.53079	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24538	1.85;1.85;1.85	5.71	3.86	0.44501	5.71	3.86	0.44501	Vault protein inter-alpha-trypsin (2);	0.364388	0.33253	N	0.005109	T	0.40743	0.1129	.	.	.	0.42723	D	0.993683	P;D	0.60575	0.956;0.988	P;P	0.55785	0.637;0.784	T	0.31558	-0.9939	9	0.66056	D	0.02	-27.732	10.2142	0.43158	0.0:0.8446:0.0:0.1554	.	116;116	G5E9D8;Q86UX2	.;ITIH5_HUMAN	N	116	ENSP00000256861:K116N;ENSP00000380333:K116N;ENSP00000380332:K116N	ENSP00000256861:K116N	K	-	3	2	2	ITIH5	7722776	7722776	1.000000	0.71417	0.358000	0.25811	0.384000	0.30261	1.835000	0.39181	0.751000	0.32900	0.563000	0.77884	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-9.554451	1	0.170000	NM_030569			90	89		615	600	1		1	0		0	0	143	0		1	1	0	0	0	172	0	90	615
ITIH5	80760	broad.mit.edu	37	10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	77	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TCTTCAGAAGCTCTGTTCAGC	0.458																																						ENST00000256861.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(229-231)Gct>Act		inter-alpha-trypsin inhibitor heavy chain family, member 5							160.0	137.0	144.0					10																	7683960		2203	4300	6503	SO:0001583	missense	80760	0	0					g.chr10:7683960C>T			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.229G>A	chr10.hg19:g.7683960C>T	ENSP00000256861:p.Ala77Thr	0					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T	p.A77T	NM_030569.6	NP_085046.5	1	2	3	2.000167	Q86UX2	ITIH5_HUMAN		3	307	-			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	1	1	hg19	c.229G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884008	0.51908	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24723	1.84;1.84;1.84	5.71	5.71	0.89125	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.494258	0.24231	N	0.040348	T	0.42449	0.1203	.	.	.	0.30257	N	0.793545	P;P	0.49447	0.744;0.924	B;P	0.51945	0.281;0.685	T	0.34453	-0.9828	9	0.59425	D	0.04	-9.8768	19.8445	0.96703	0.0:1.0:0.0:0.0	.	77;77	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	77	ENSP00000256861:A77T;ENSP00000380333:A77T;ENSP00000380332:A77T	ENSP00000256861:A77T	A	-	1	0	0	ITIH5	7723966	7723966	0.929000	0.31497	0.911000	0.35937	0.038000	0.13279	3.230000	0.51286	2.695000	0.91970	0.462000	0.41574	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_030569			83	83		367	360	1		1	0		0	0	83	0		1	1	0	1	0	137	0	83	367
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000358415.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.F234F(2)	large_intestine(2)	64						c.(700-702)ttC>ttT		inter-alpha-trypsin inhibitor heavy chain 2		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	SO:0001819	synonymous_variant	3698	7	121412	43				g.chr10:7762890C>T	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	chr10.hg19:g.7762890C>T		0					ITIH2_ENST00000379587.4_Silent_p.F223F	p.F234F	NM_002216.2	NP_002207.2	1	2	3	2.000167	P19823	ITIH2_HUMAN		7	868	+			Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	1	1	hg19	c.702C>T	CCDS31141.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.254894	1	0.170000	NM_002216			87	89		414	408	0		1	0		0	0	87	0		1	5.385488e-01	0	0	0	10	0	87	414
ITIH2	3698	broad.mit.edu	37	10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000358415.4	+	15	1961	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	599					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)			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						CAGAAGCCTGGCTCCTACAGC	0.552																																						ENST00000358415.4	1.000000	0.380000	6.800000e-01	4.600000e-01	0.560000	0.587326	0.560000	0.550000																										0				64						c.(1795-1797)Gct>Act		inter-alpha-trypsin inhibitor heavy chain 2							100.0	101.0	101.0					10																	7776892		2203	4300	6503	SO:0001583	missense	3698	0	0					g.chr10:7776892G>A	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.1795G>A	chr10.hg19:g.7776892G>A	ENSP00000351190:p.Ala599Thr	0					ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	p.A599T	NM_002216.2	NP_002207.2	1	2	3	2.000167	P19823	ITIH2_HUMAN		15	1961	+			Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	1	1	hg19	c.1795G>A	CCDS31141.1	0	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123567	0.77436	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.35421	1.31;1.31	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.994257	0.08171	N	0.987029	T	0.65739	0.2720	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58781	-0.7576	10	0.59425	D	0.04	-20.7694	19.541	0.95273	0.0:0.0:1.0:0.0	.	599	P19823	ITIH2_HUMAN	T	599;588	ENSP00000351190:A599T;ENSP00000368906:A588T	ENSP00000351190:A599T	A	+	1	0	0	ITIH2	7816898	7816898	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.411000	0.97342	2.609000	0.88269	0.543000	0.68304	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-20.000000	1	0.170000	NM_002216			33	32		675	664	0		1	0		0	0	112	0		1	1.955144e-01	0	0	0	17	0	33	675
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000358415.4	+	18	2413	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					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)			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						GTGCCAAGAAGCCCAACAATG	0.383																																						ENST00000358415.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2245-2247)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain 2							78.0	79.0	79.0					10																	7786082		2203	4300	6503	SO:0001583	missense	3698	0	0					g.chr10:7786082G>T	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.2247G>T	chr10.hg19:g.7786082G>T	ENSP00000351190:p.Lys749Asn	0					ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	p.K749N	NM_002216.2	NP_002207.2	1	2	3	2.000167	P19823	ITIH2_HUMAN		18	2413	+			Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	1	1	hg19	c.2247G>T	CCDS31141.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381513	0.61845	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12984	2.63;2.63	5.43	3.58	0.41010	5.43	3.58	0.41010	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.239649	0.41396	D	0.000883	T	0.29288	0.0729	M	0.76838	2.35	0.32661	N	0.518123	P	0.45986	0.87	P	0.55785	0.784	T	0.36016	-0.9765	10	0.36615	T	0.2	-16.9467	10.0692	0.42322	0.2721:0.0:0.7279:0.0	.	749	P19823	ITIH2_HUMAN	N	749;738	ENSP00000351190:K749N;ENSP00000368906:K738N	ENSP00000351190:K749N	K	+	3	2	2	ITIH2	7826088	7826088	0.993000	0.37304	0.883000	0.34634	0.939000	0.58152	1.666000	0.37460	0.662000	0.31006	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_002216			42	42		158	157	1		1	0		0	0	47	0		1	7.515596e-01	0	0	0	12	0	42	158
ITIH2	3698	broad.mit.edu	37	10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000358415.4	+	20	2823	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I	ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	886					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)			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						CCAGAGGCCAGCATGGAAGTG	0.498																																						ENST00000358415.4	1.000000	0.220000	8.200000e-01	3.600000e-01	0.550000	0.584620	0.550000	1.000000																										0				64						c.(2656-2658)aGc>aTc		inter-alpha-trypsin inhibitor heavy chain 2							90.0	76.0	81.0					10																	7788631		2203	4300	6503	SO:0001583	missense	3698	0	0					g.chr10:7788631G>T	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.2657G>T	chr10.hg19:g.7788631G>T	ENSP00000351190:p.Ser886Ile	0					ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	p.S886I	NM_002216.2	NP_002207.2	1	2	3	2.000167	P19823	ITIH2_HUMAN		20	2823	+			Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	1	1	hg19	c.2657G>T	CCDS31141.1	0	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.10288	2.89;2.89	5.27	2.32	0.28847	5.27	2.32	0.28847	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.313882	0.37955	N	0.001869	T	0.08935	0.0221	L	0.54323	1.7	0.29012	N	0.886794	B	0.06786	0.001	B	0.14023	0.01	T	0.22347	-1.0219	10	0.39692	T	0.17	-10.9131	1.7834	0.03036	0.1497:0.2218:0.387:0.2414	.	886	P19823	ITIH2_HUMAN	I	886;875	ENSP00000351190:S886I;ENSP00000368906:S875I	ENSP00000351190:S886I	S	+	2	0	0	ITIH2	7828637	7828637	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.436000	0.34980	0.271000	0.22005	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	0	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-8.843283	1	0.170000	NM_002216			6	6		134	131	0		1	0		0	0	25	0		9.636486e-01	2.945455e-01	0	0	0	22	0	6	134
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	rs146307767	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					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)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0				Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(253-255)cCt>cTt		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							104.0	95.0	98.0					10																	7840983		2203	4300	6503	SO:0001583	missense	509	10	121412	42				g.chr10:7840983C>T	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.254C>T	chr10.hg19:g.7840983C>T	ENSP00000349142:p.Pro85Leu	0					ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L	p.P85L	NM_001001973.1	NP_001001973.1	1	2	3	2.000167	P36542	ATPG_HUMAN		4	333	+			A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	1	1	hg19	c.254C>T	CCDS31142.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.33	1.905580	0.33628	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	4.51	0.55191	5.46	4.51	0.55191	ATPase, F1 complex, gamma subunit domain (1);	0.046924	0.85682	D	0.000000	T	0.45054	0.1323	N	0.16233	0.39	0.80722	D	1	B	0.24920	0.114	B	0.31495	0.131	T	0.35699	-0.9778	9	0.32370	T	0.25	-14.5997	16.1868	0.81960	0.1332:0.8667:0.0:0.0	.	85	P36542	ATPG_HUMAN	L	85;85;38	.	ENSP00000338568:P85L	P	+	2	0	0	ATP5C1	7880989	7880989	0.995000	0.38212	0.992000	0.48379	0.402000	0.30811	5.706000	0.68362	2.713000	0.92767	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.548323	1	0.170000	NM_005174			74	73		282	280	1		1	1		0	0	66	0		1	1	0	301	0	770	0	74	282
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					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)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468																																						ENST00000344293.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1315-1317)tcC>tcT		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							79.0	80.0	80.0					10																	8006790		1911	4128	6039	SO:0001819	synonymous_variant	83860	0	0					g.chr10:8006790C>T	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.1317C>T	chr10.hg19:g.8006790C>T		0						p.S439S	NM_031923.3	NP_114129.1	1	2	3	2.000167	Q5VWG9	TAF3_HUMAN		3	1523	+			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	1	1	hg19	c.1317C>T	CCDS41487.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-2.668825	1	0.170000	NM_031923			94	91		493	487	1		1	1		0	0	116	0		1	9.998599e-01	0	16	0	53	0	94	493
TAF3	83860	broad.mit.edu	37	10	8051129	8051129	+	Missense_Mutation	SNP	G	G	A	rs376569744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8051129G>A	ENST00000344293.5	+	5	2610	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	802	Pro-rich.				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)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ccccgcgcccgcccccggccc	0.771																																						ENST00000344293.5	1.000000	0.390000	1	5.700000e-01	0.820000	0.797737	0.820000	1.000000																										0				40						c.(2404-2406)Gcc>Acc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa		G	THR/ALA	2,1976		0,2,987	6.0	10.0	9.0		2404	4.6	0.0	10		9	0,4616		0,0,2308	no	missense	TAF3	NM_031923.2	58	0,2,3295	AA,AG,GG		0.0,0.1011,0.0303	possibly-damaging	802/930	8051129	2,6592	989	2308	3297	SO:0001583	missense	83860	5	103446	31				g.chr10:8051129G>A	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.2404G>A	chr10.hg19:g.8051129G>A	ENSP00000340271:p.Ala802Thr	0						p.A802T	NM_031923.3	NP_114129.1	1	2	3	2.000167	Q5VWG9	TAF3_HUMAN		5	2610	+			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	0	1	hg19	c.2404G>A	CCDS41487.1	0	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015318	0.35511	0.001011	0.0	ENSG00000165632	ENST00000344293	T	0.18502	2.21	5.53	4.62	0.57501	5.53	4.62	0.57501	.	0.243575	0.27043	U	0.021214	T	0.16214	0.0390	M	0.65975	2.015	0.09310	N	1	P	0.41710	0.76	B	0.24974	0.057	T	0.17048	-1.0382	10	0.15499	T	0.54	.	17.4995	0.87727	0.0658:0.0:0.9342:0.0	.	802	Q5VWG9	TAF3_HUMAN	T	802	ENSP00000340271:A802T	ENSP00000340271:A802T	A	+	1	0	0	TAF3	8091135	8091135	0.629000	0.27146	0.001000	0.08648	0.000000	0.00434	1.804000	0.38873	0.712000	0.32039	-0.797000	0.03246	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-12.630870	1	0.170000	NM_031923			8	8		113	109	0		1			0	0	8	0		9.886988e-01	0	0	0	0	0	0	8	113
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	rs200935603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000346208.3	+	6	1638	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	GATA3_ENST00000379328.3_Missense_Mutation_p.A396T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	395					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)			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						TAACCCGGCCGCCCTCTCCAG	0.562			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						G|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.001		0.0	False		,,,				2504	0.0					ENST00000346208.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		10	10p15	10p15	2625	F, N, S	GATA binding protein 3	yes	yes	HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)	E	E			breast		0				87						c.(1183-1185)Gcc>Acc		GATA binding protein 3							101.0	101.0	101.0					10																	8115837		2203	4300	6503	SO:0001583	missense	2625	20	121412	45				g.chr10:8115837G>A	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.1183G>A	chr10.hg19:g.8115837G>A	ENSP00000341619:p.Ala395Thr	0					GATA3_ENST00000379328.3_Missense_Mutation_p.A396T|GATA3_ENST00000461472.1_3'UTR	p.A395T			1	2	3	2.000167	P23771	GATA3_HUMAN		6	1638	+			Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	1	1	hg19	c.1183G>A	CCDS7083.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.38	2.517688	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.03	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.55481	1.735	0.58432	D	0.999998	D;P	0.76494	0.999;0.588	D;B	0.75020	0.985;0.239	D	0.97524	1.0075	10	0.48119	T	0.1	-12.9454	18.8714	0.92317	0.0:0.0:1.0:0.0	.	395;396	P23771;P23771-2	GATA3_HUMAN;.	T	396;395	ENSP00000368632:A396T;ENSP00000341619:A395T	ENSP00000341619:A395T	A	+	1	0	0	GATA3	8155843	8155843	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.707000	0.68370	2.447000	0.82792	0.462000	0.41574	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	1	0	1		2	2	2	0		0	0	90		90	94	1	2.060000	-3.538525	1	0.170000	NM_001002295			118	114		462	468	1		1	0		0	0	90	0		1	5.734949e-01	0	0	0	9	0	118	462
BEND7	222389	broad.mit.edu	37	10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000396900.2	-	3	195	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	BEND7_ENST00000396898.2_Missense_Mutation_p.L66M|BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000341083.3_Missense_Mutation_p.L14M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	66						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433																																						ENST00000396900.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(196-198)Ctg>Atg		BEN domain containing 7							139.0	141.0	140.0					10																	13542030		2203	4300	6503	SO:0001583	missense	222389	0	0					g.chr10:13542030G>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.196C>A	chr10.hg19:g.13542030G>T	ENSP00000380108:p.Leu66Met	0					BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000341083.3_Missense_Mutation_p.L14M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M	p.L66M			1	2	3	2.000167	Q8N7W2	BEND7_HUMAN		3	195	-			Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	1	1	hg19	c.196C>A		1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602344	0.66445	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65916	-0.18;-0.15;-0.09;-0.08	5.63	0.597	0.17504	5.63	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.63843	1.955	0.37854	D	0.929479	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73972	-0.3814	10	0.87932	D	0	-11.9329	10.2521	0.43375	0.3253:0.0:0.6747:0.0	.	66;14	E5RFC0;Q8N7W2-3	.;.	M	66;14;66;14	ENSP00000380108:L66M;ENSP00000345773:L14M;ENSP00000380107:L66M;ENSP00000367868:L14M	ENSP00000345773:L14M	L	-	1	2	2	BEND7	13582036	13582036	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.854000	0.48325	0.084000	0.17077	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000	NM_152751			168	162		766	749	1		1	1		0	0	133	0		1	8.100114e-01	0	2	0	14	0	168	766
PRPF18	8559	broad.mit.edu	37	10	13639487	13639487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13639487G>A	ENST00000378572.3	+	2	256	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	32					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGCGTAGTGAGCTCGCCAAAA	0.279																																						ENST00000378572.3	1.000000	0.170000	6.000000e-01	2.700000e-01	0.400000	0.451531	0.400000	0.370000																										0				17						c.(94-96)gaG>gaA		pre-mRNA processing factor 18							91.0	92.0	92.0					10																	13639487		2203	4300	6503	SO:0001819	synonymous_variant	8559	0	0					g.chr10:13639487G>A	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.96G>A	chr10.hg19:g.13639487G>A		0						p.E32E	NM_003675.3	NP_003666.1	1	2	3	2.000167	Q99633	PRP18_HUMAN		2	256	+			Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	0	1	hg19	c.96G>A	CCDS7100.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1	0	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-3.609943	1	0.170000				7	7		212	209	0		1	1		0	0	19	0		9.801481e-01	8.533194e-01	0	4	0	104	0	7	212
FRMD4A	55691	broad.mit.edu	37	10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	978	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTTGCACATCTGGGGCATCC	0.667																																						ENST00000357447.2	1.000000	0.430000	1	6.300000e-01	0.900000	0.845840	0.900000	1.000000																										0				41						c.(2932-2934)caG>caT		FERM domain containing 4A							39.0	36.0	37.0					10																	13698655		2202	4300	6502	SO:0001583	missense	55691	0	0					g.chr10:13698655C>A	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.2934G>T	chr10.hg19:g.13698655C>A	ENSP00000350032:p.Gln978His	0					FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	p.Q978H	NM_018027.3	NP_060497.3	1	2	3	2.000167	Q9P2Q2	FRM4A_HUMAN		22	3302	-			A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	0	1	hg19	c.2934G>T	CCDS7101.1	1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673393	0.29693	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83755	-1.76;-1.76;-1.76	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.112219	0.64402	D	0.000010	T	0.65428	0.2690	N	0.08118	0	0.28951	N	0.890379	P	0.39576	0.679	B	0.34722	0.188	T	0.66728	-0.5850	10	0.52906	T	0.07	-17.5835	11.3625	0.49651	0.0:0.9164:0.0:0.0836	.	978	Q9P2Q2	FRM4A_HUMAN	H	963;978;978	ENSP00000351438:Q963H;ENSP00000350032:Q978H;ENSP00000367764:Q978H	ENSP00000350032:Q978H	Q	-	3	2	2	FRMD4A	13738661	13738661	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.042000	0.49815	2.196000	0.70406	0.205000	0.17691	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-12.964200	1	0.170000	NM_018027			8	8		101	98	0		1	0		0	0	17	0		9.890674e-01	5.861461e-01	0	0	0	25	0	8	101
FRMD4A	55691	broad.mit.edu	37	10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A	rs201092986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	761					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		7375	0.0		0.0	False		,,,				2504	0.0					ENST00000357447.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				41						c.(2281-2283)cCg>cTg		FERM domain containing 4A							49.0	41.0	44.0					10																	13699307		2203	4300	6503	SO:0001583	missense	55691	1	121280	21				g.chr10:13699307G>A	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.2282C>T	chr10.hg19:g.13699307G>A	ENSP00000350032:p.Pro761Leu	0					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	p.P761L	NM_018027.3	NP_060497.3	1	2	3	2.000167	Q9P2Q2	FRM4A_HUMAN		22	2650	-			A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	1	1	hg19	c.2282C>T	CCDS7101.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.847717	0.71603	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85773	-2.01;-2.03;-2.03	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.047559	0.85682	D	0.000000	T	0.82213	0.4988	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	B	0.39805	0.31	T	0.82301	-0.0525	10	0.31617	T	0.26	-25.4714	18.5337	0.91001	0.0:0.0:1.0:0.0	.	761	Q9P2Q2	FRM4A_HUMAN	L	746;761;761	ENSP00000351438:P746L;ENSP00000350032:P761L;ENSP00000367764:P761L	ENSP00000350032:P761L	P	-	2	0	0	FRMD4A	13739313	13739313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.687000	0.98667	2.353000	0.79882	0.436000	0.28706	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	1	0	1		2	2	2	0		0	0	16		16	11	1	2.060000	-20.000000	1	0.170000	NM_018027			23	19		101	98	0		1	0		0	0	16	0		9.999994e-01	9.256610e-01	0	0	0	22	0	23	101
FRMD4A	55691	broad.mit.edu	37	10	13699468	13699468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	707	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682																																						ENST00000357447.2	1.000000	0.150000	5.800000e-01	2.500000e-01	0.380000	0.428449	0.380000	0.340000																										0				41						c.(2119-2121)caC>caT		FERM domain containing 4A							22.0	23.0	23.0					10																	13699468		2189	4287	6476	SO:0001819	synonymous_variant	55691	0	0					g.chr10:13699468G>A	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.2121C>T	chr10.hg19:g.13699468G>A		0					FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	p.H707H	NM_018027.3	NP_060497.3	1	2	3	2.000167	Q9P2Q2	FRM4A_HUMAN		22	2489	-			A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	1	1	hg19	c.2121C>T	CCDS7101.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-8.152199	1	0.170000	NM_018027			6	6		197	194	0		1	0		0	0	36	0		9.640245e-01	2.008621e-01	0	0	0	24	0	6	197
FRMD4A	55691	broad.mit.edu	37	10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	282	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512																																						ENST00000357447.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(844-846)gTg>gCg		FERM domain containing 4A							147.0	132.0	137.0					10																	13743470		2203	4300	6503	SO:0001583	missense	55691	0	0					g.chr10:13743470A>G	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.845T>C	chr10.hg19:g.13743470A>G	ENSP00000350032:p.Val282Ala	0					FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A	p.V282A	NM_018027.3	NP_060497.3	1	2	3	2.000167	Q9P2Q2	FRM4A_HUMAN		14	1213	-			A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	1	1	hg19	c.845T>C	CCDS7101.1	1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268444	0.59540	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.75;-1.76	5.34	5.34	0.76211	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.38531	1.155	0.80722	D	1	B;B;P	0.42123	0.106;0.234;0.771	B;B;P	0.44422	0.147;0.135;0.449	T	0.78753	-0.2081	10	0.19590	T	0.45	-18.9258	15.6255	0.76851	1.0:0.0:0.0:0.0	.	298;315;282	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	A	267;282;282;315;298	ENSP00000351438:V267A;ENSP00000350032:V282A;ENSP00000367764:V282A;ENSP00000264546:V315A;ENSP00000344237:V298A	ENSP00000264546:V315A	V	-	2	0	0	FRMD4A	13783476	13783476	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_018027			79	78		391	385	1		1	0		0	0	102	0		1	9.646413e-01	0	0	0	28	0	79	391
FAM107B	83641	broad.mit.edu	37	10	14816459	14816459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582																																						ENST00000181796.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(202-204)agC>agT		family with sequence similarity 107, member B							130.0	119.0	123.0					10																	14816459		2203	4300	6503	SO:0001819	synonymous_variant	83641	2	121412	37				g.chr10:14816459G>A	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	ENST00000181796.2:c.204C>T	chr10.hg19:g.14816459G>A		0						p.S68S	NM_031453.2	NP_113641.2	1	2	3	2.000167	Q9H098	F107B_HUMAN		1	437	-			A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000181796.2	1	1	hg19	c.204C>T	CCDS7102.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	1	0	0		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_031453			171	170		672	663	0		1			0	0	139	0		1	0	0	0	0	0	0	171	672
SUV39H2	79723	broad.mit.edu	37	10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000354919.6	+	3	826	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.F216V|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	276	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373																																						ENST00000354919.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(826-828)Ttt>Gtt		suppressor of variegation 3-9 homolog 2 (Drosophila)							70.0	66.0	67.0					10																	14939493		2203	4300	6503	SO:0001583	missense	79723	0	0					g.chr10:14939493T>G	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.826T>G	chr10.hg19:g.14939493T>G	ENSP00000346997:p.Phe276Val	0					SUV39H2_ENST00000313519.5_Missense_Mutation_p.F216V|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR	p.F276V	NM_001193424.1	NP_001180353.1	1	2	3	2.000167	Q9H5I1	SUV92_HUMAN		3	826	+			D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	1	1	hg19	c.826T>G	CCDS53494.1	1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331871	0.81801	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.91237	-1.74;-1.74;-2.81	5.86	5.86	0.93980	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97246	0.9894	10	0.87932	D	0	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	276	Q9H5I1	SUV92_HUMAN	V	276;216;216	ENSP00000346997:F276V;ENSP00000319208:F216V;ENSP00000392201:F216V	ENSP00000319208:F216V	F	+	1	0	0	SUV39H2	14979499	14979499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_024670			93	92		363	356	1		1	1		0	0	76	0		1	9.778777e-01	0	8	0	18	0	93	363
SUV39H2	79723	broad.mit.edu	37	10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000354919.6	+	3	833	c.833T>C	c.(832-834)aTg>aCg	p.M278T	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.M218T|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	278	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373																																						ENST00000354919.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(832-834)aTg>aCg		suppressor of variegation 3-9 homolog 2 (Drosophila)							66.0	63.0	64.0					10																	14939500		2203	4300	6503	SO:0001583	missense	79723	0	0					g.chr10:14939500T>C	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.833T>C	chr10.hg19:g.14939500T>C	ENSP00000346997:p.Met278Thr	0					SUV39H2_ENST00000313519.5_Missense_Mutation_p.M218T|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR	p.M278T	NM_001193424.1	NP_001180353.1	1	2	3	2.000167	Q9H5I1	SUV92_HUMAN		3	833	+			D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	1	1	hg19	c.833T>C	CCDS53494.1	1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429912	0.43122	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;D	0.89552	-1.47;-1.47;-2.53	5.86	5.86	0.93980	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	N	0.12527	0.23	0.80722	D	1	B	0.32939	0.391	B	0.40534	0.332	T	0.82337	-0.0507	10	0.35671	T	0.21	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	278	Q9H5I1	SUV92_HUMAN	T	278;218;218	ENSP00000346997:M278T;ENSP00000319208:M218T;ENSP00000392201:M218T	ENSP00000319208:M218T	M	+	2	0	0	SUV39H2	14979506	14979506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	1	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_024670			74	73		374	368	1		1	1		0	0	73	0		1	9.410429e-01	0	10	0	16	0	74	374
RPP38	10557	broad.mit.edu	37	10	15145661	15145661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	116					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)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(346-348)ggC>ggT		ribonuclease P/MRP 38kDa subunit							79.0	76.0	77.0					10																	15145661		2203	4300	6503	SO:0001819	synonymous_variant	10557	0	0					g.chr10:15145661C>T	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.348C>T	chr10.hg19:g.15145661C>T		0					RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	p.G116G	NM_183005.4	NP_892117.1	1	2	3	2.000167	P78345	RPP38_HUMAN		3	862	+			B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	1	1	hg19	c.348C>T	CCDS7108.1	1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206024	0.09704	.	.	ENSG00000152465	ENST00000441445	.	.	.	5.67	-10.1	0.00402	5.67	-10.1	0.00402	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	5	0.34782	T	0.22	-24.5283	2.9592	0.05887	0.1391:0.1061:0.2789:0.4759	.	.	.	.	T	64	.	ENSP00000408127:A64T	A	-	1	0	0	NMT2	15185667	15185667	0.001000	0.12720	0.000000	0.03702	0.630000	0.37929	-1.467000	0.02352	-1.940000	0.01043	-0.932000	0.02703	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-3.872394	1	0.170000	NM_006414			61	61		226	225	1		1	1		0	0	50	0		1	1	0	46	0	97	0	61	226
NMT2	9397	broad.mit.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1054-1056)Cga>Tga		N-myristoyltransferase 2							195.0	177.0	183.0					10																	15161458		2203	4300	6503	SO:0001587	stop_gained	9397	0	0					g.chr10:15161458G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1054C>T	chr10.hg19:g.15161458G>A	ENSP00000367407:p.Arg352*	0					NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron	p.R352*	NM_004808.2	NP_004799.1	1	2	3	2.000167	O60551	NMT2_HUMAN		9	1134	-			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	0	1	hg19	c.1054C>T	CCDS7109.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	2	NMT2	15201464	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_004808			70	69		315	308	1		1	1		0	0	77	0		1	9.974610e-01	0	2	0	41	0	70	315
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|NMT2_ENST00000540259.1_Silent_p.V37V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.998486	0.990000	1.000000																										0				21						c.(673-675)gtC>gtT		N-myristoyltransferase 2							89.0	88.0	88.0					10																	15174860		2203	4300	6503	SO:0001819	synonymous_variant	9397	1	121412	31				g.chr10:15174860G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.675C>T	chr10.hg19:g.15174860G>A		0					NMT2_ENST00000540259.1_Silent_p.V37V|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron	p.V225V	NM_004808.2	NP_004799.1	1	2	3	2.000167	O60551	NMT2_HUMAN		6	755	-			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	1	1	hg19	c.675C>T	CCDS7109.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	1	0	1		19	2	2	0		0	1	94		94	93	1	2.060000	-3.075755	1	0.170000	NM_004808			57	56		472	458	1		1	0		0	0	94	0		9.999980e-01	9.507599e-01	0	0	0	43	0	57	472
ITGA8	8516	broad.mit.edu	37	10	15573078	15573078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15573078G>A	ENST00000378076.3	-	28	3306	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					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)			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						AGTTTTGCTGGCTGATCTGTA	0.313																																						ENST00000378076.3	1.000000	0.290000	5.700000e-01	3.600000e-01	0.450000	0.489048	0.450000	0.440000																										0				96						c.(2953-2955)Cca>Tca		integrin, alpha 8							100.0	100.0	100.0					10																	15573078		2203	4300	6503	SO:0001583	missense	8516	0	0					g.chr10:15573078G>A	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.2953C>T	chr10.hg19:g.15573078G>A	ENSP00000367316:p.Pro985Ser	0						p.P985S	NM_003638.1	NP_003629	1	2	3	2.000167	P53708	ITA8_HUMAN		28	3306	-			B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	1	1	hg19	c.2953C>T	CCDS31155.1	0	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411702	0.83340	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69823	2.125	0.51767	D	0.99993	D;D	0.65815	0.995;0.992	P;P	0.58130	0.833;0.685	T	0.59679	-0.7409	10	0.28530	T	0.3	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	S	985;970	ENSP00000367316:P985S	ENSP00000367316:P985S	P	-	1	0	0	ITGA8	15613084	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.796217	1	0.170000	NM_003638			24	24		614	602	0		1	0		0	0	72	0		9.999996e-01	9.083048e-02	0	0	0	13	0	24	614
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	326					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)			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						CATCTGATACGACAACGGTAT	0.318																																						ENST00000378076.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(976-978)gtC>gtT		integrin, alpha 8							156.0	146.0	149.0					10																	15697376		2203	4300	6503	SO:0001819	synonymous_variant	8516	0	0					g.chr10:15697376G>A	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.978C>T	chr10.hg19:g.15697376G>A		0						p.V326V	NM_003638.1	NP_003629	1	2	3	2.000167	P53708	ITA8_HUMAN		11	1331	-			B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	1	1	hg19	c.978C>T	CCDS31155.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.238665	1	0.170000	NM_003638			71	71		358	349	1		1	0		0	0	75	1		1	7.686938e-01	0	0	0	16	0	71	358
ITGA8	8516	broad.mit.edu	37	10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	142					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)			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						TCCTTTGTGAGCTTTCACTGT	0.428																																						ENST00000378076.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(424-426)gCt>gAt		integrin, alpha 8							227.0	193.0	205.0					10																	15729956		2202	4300	6502	SO:0001583	missense	8516	0	0					g.chr10:15729956G>T	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.425C>A	chr10.hg19:g.15729956G>T	ENSP00000367316:p.Ala142Asp	0						p.A142D	NM_003638.1	NP_003629	1	2	3	2.000167	P53708	ITA8_HUMAN		3	778	-			B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	1	1	hg19	c.425C>A	CCDS31155.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490544	0.84962	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.85629	-2.01	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.047344	0.85682	D	0.000000	D	0.92080	0.7490	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.937	D	0.92576	0.6070	10	0.87932	D	0	.	19.3886	0.94570	0.0:0.0:1.0:0.0	.	142;142	F5H818;P53708	.;ITA8_HUMAN	D	142	ENSP00000367316:A142D	ENSP00000367316:A142D	A	-	2	0	0	ITGA8	15769962	15769962	1.000000	0.71417	0.838000	0.33150	0.712000	0.41017	9.476000	0.97823	2.583000	0.87209	0.491000	0.48974	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_003638			112	110		452	446	1		1	0		0	0	93	0		1	6.742530e-01	0	0	0	11	0	112	452
C1QL3	389941	broad.mit.edu	37	10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	242	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388																																						ENST00000298943.3	1.000000	0.370000	7.200000e-01	4.600000e-01	0.570000	0.601083	0.570000	0.560000																										0				13						c.(724-726)aAc>aGc		complement component 1, q subcomponent-like 3							151.0	142.0	145.0					10																	16556570		2203	4300	6503	SO:0001583	missense	389941	0	0					g.chr10:16556570T>C		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.725A>G	chr10.hg19:g.16556570T>C	ENSP00000298943:p.Asn242Ser	0						p.N242S	NM_001010908.1	NP_001010908.1	1	2	3	2.000167	Q5VWW1	C1QL3_HUMAN		2	1664	-			A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	1	1	hg19	c.725A>G	CCDS31156.1	0	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753605	0.69648	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.74737	-0.87	5.68	5.68	0.88126	5.68	5.68	0.88126	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.50333	1.59	0.58432	D	0.999995	P	0.45569	0.861	P	0.49953	0.627	T	0.76307	-0.3007	10	0.38643	T	0.18	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	242	Q5VWW1	C1QL3_HUMAN	S	242;219	ENSP00000298943:N242S	ENSP00000298943:N242S	N	-	2	0	0	C1QL3	16596576	16596576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-5.128058	1	0.170000	XM_372305			25	25		501	492	0		1	0		0	0	94	0		9.999998e-01	1.170328e-01	0	1	0	11	0	25	501
C1QL3	389941	broad.mit.edu	37	10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	236	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398																																						ENST00000298943.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(706-708)gCc>gAc		complement component 1, q subcomponent-like 3							153.0	142.0	146.0					10																	16556588		2203	4300	6503	SO:0001583	missense	389941	0	0					g.chr10:16556588G>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.707C>A	chr10.hg19:g.16556588G>T	ENSP00000298943:p.Ala236Asp	0						p.A236D	NM_001010908.1	NP_001010908.1	1	2	3	2.000167	Q5VWW1	C1QL3_HUMAN		2	1646	-			A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	1	1	hg19	c.707C>A	CCDS31156.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012318	0.54468	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.75589	-0.95	5.71	4.81	0.61882	5.71	4.81	0.61882	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75858	-0.3169	10	0.15952	T	0.53	.	14.6519	0.68803	0.0698:0.0:0.9302:0.0	.	236	Q5VWW1	C1QL3_HUMAN	D	236;213	ENSP00000298943:A236D	ENSP00000298943:A236D	A	-	2	0	0	C1QL3	16596594	16596594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.428000	0.47296	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	XM_372305			85	84		396	391	1		1	0		0	0	95	0		1	6.532874e-01	0	0	0	12	0	85	396
C1QL3	389941	broad.mit.edu	37	10	16562739	16562739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	ENST00000298943.3	-	1	1265	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	109	Collagen-like.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGCGTTCAggccgggcgcccc	0.781																																						ENST00000298943.3	1.000000	0.520000	1	6.900000e-01	0.920000	0.873177	0.920000	1.000000																										0				13						c.(325-327)gGc>gAc		complement component 1, q subcomponent-like 3							19.0	19.0	19.0					10																	16562739		2198	4293	6491	SO:0001583	missense	389941	2	115792	31				g.chr10:16562739C>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.326G>A	chr10.hg19:g.16562739C>T	ENSP00000298943:p.Gly109Asp	0						p.G109D	NM_001010908.1	NP_001010908.1	1	2	3	2.000167	Q5VWW1	C1QL3_HUMAN		1	1265	-			A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	0	1	hg19	c.326G>A	CCDS31156.1	1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.99353	-5.77	3.52	2.59	0.31030	3.52	2.59	0.31030	.	0.211440	0.37906	N	0.001892	D	0.99354	0.9773	M	0.90595	3.13	0.51233	D	0.999918	D	0.76494	0.999	D	0.67103	0.949	D	0.99136	1.0854	10	0.59425	D	0.04	.	12.1876	0.54247	0.1719:0.8281:0.0:0.0	.	109	Q5VWW1	C1QL3_HUMAN	D	109;86	ENSP00000298943:G109D	ENSP00000298943:G109D	G	-	2	0	0	C1QL3	16602745	16602745	0.998000	0.40836	0.999000	0.59377	0.905000	0.53344	2.378000	0.44309	0.803000	0.34113	0.557000	0.71058	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.781	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	0	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-18.454750	1	0.170000	XM_372305			13	13		158	152	0		1			0	0	22	0		9.994934e-01	0	0	0	0	0	0	13	158
CUBN	8029	broad.mit.edu	37	10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3440	CUB 26. {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)			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)	CTCGATGCCAAGTGAATGAAA	0.418																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(10318-10320)cTt>cGt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136.0	117.0	123.0					10																	16877056		2203	4300	6503	SO:0001583	missense	8029	0	0					g.chr10:16877056A>C	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.10319T>G	chr10.hg19:g.16877056A>C	ENSP00000367064:p.Leu3440Arg	0						p.L3440R	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		64	10384	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.10319T>G	CCDS7113.1	1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305128	0.40795	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.24538	1.85	4.84	4.84	0.62591	4.84	4.84	0.62591	CUB (5);	0.000000	0.44097	D	0.000491	T	0.36580	0.0972	M	0.80422	2.495	0.80722	D	1	B	0.25169	0.119	B	0.30855	0.121	T	0.36187	-0.9758	10	0.72032	D	0.01	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	3440	O60494	CUBN_HUMAN	R	3440;281	ENSP00000367064:L3440R	ENSP00000367064:L3440R	L	-	2	0	0	CUBN	16917062	16917062	1.000000	0.71417	0.140000	0.22221	0.373000	0.29922	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_001081			62	62		305	298	1		1	0		0	0	73	0		1	7.824778e-02	0	1	0	2	0	62	305
CUBN	8029	broad.mit.edu	37	10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3413	CUB 26. {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)			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)	GTCGTAGTTATCTGGCCATCC	0.438																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(10237-10239)gAt>gCt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						165.0	142.0	150.0					10																	16877137		2203	4300	6503	SO:0001583	missense	8029	0	0					g.chr10:16877137T>G	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.10238A>C	chr10.hg19:g.16877137T>G	ENSP00000367064:p.Asp3413Ala	0						p.D3413A	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		64	10303	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.10238A>C	CCDS7113.1	1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282625	0.10458	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35048	1.33	4.84	-0.549	0.11829	4.84	-0.549	0.11829	CUB (5);	0.695101	0.12395	N	0.472617	T	0.21550	0.0519	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18999	-1.0319	10	0.56958	D	0.05	.	6.1158	0.20126	0.0:0.3293:0.1301:0.5406	.	3413	O60494	CUBN_HUMAN	A	3413;254	ENSP00000367064:D3413A	ENSP00000367064:D3413A	D	-	2	0	0	CUBN	16917143	16917143	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.440000	0.21592	-0.251000	0.09542	-0.361000	0.07541	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	0		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_001081			76	72		344	332	1		1	0		0	0	76	0		1	3.364593e-02	0	0	0	2	0	76	344
CUBN	8029	broad.mit.edu	37	10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3382	CUB 25. {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)			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)	TCTAGAGTTTCTGTTTACAAC	0.378																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(10144-10146)aGa>aTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						69.0	69.0	69.0					10																	16878269		2203	4300	6503	SO:0001583	missense	8029	0	0					g.chr10:16878269C>A	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.10145G>T	chr10.hg19:g.16878269C>A	ENSP00000367064:p.Arg3382Ile	0						p.R3382I	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		63	10210	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.10145G>T	CCDS7113.1	1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419323	0.25552	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34472	1.36	4.89	-2.12	0.07165	4.89	-2.12	0.07165	CUB (4);	0.986847	0.08229	N	0.977876	T	0.19446	0.0467	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23261	-1.0193	10	0.29301	T	0.29	.	1.7924	0.03054	0.3558:0.1684:0.3245:0.1514	.	3382	O60494	CUBN_HUMAN	I	3382;223	ENSP00000367064:R3382I	ENSP00000367064:R3382I	R	-	2	0	0	CUBN	16918275	16918275	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-2.237000	0.01200	-0.517000	0.06461	-0.311000	0.09066	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_001081			59	57		237	233	1		1	0		0	0	43	0		1	0	0	0	0	1	0	59	237
CUBN	8029	broad.mit.edu	37	10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2651	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)			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)	AGGCTTTGAAGGACCACAAAG	0.403																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(7951-7953)cCt>cAt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95.0	89.0	91.0					10																	16946075		2203	4300	6503	SO:0001583	missense	8029	0	0					g.chr10:16946075G>T	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.7952C>A	chr10.hg19:g.16946075G>T	ENSP00000367064:p.Pro2651His	0						p.P2651H	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		51	8017	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.7952C>A	CCDS7113.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320521	0.23994	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.39	3.39	0.38822	5.39	3.39	0.38822	CUB (5);	0.858271	0.09772	N	0.757850	T	0.14442	0.0349	N	0.08118	0	0.24998	N	0.991489	B	0.02656	0.0	B	0.08055	0.003	T	0.23511	-1.0186	10	0.38643	T	0.18	.	2.7814	0.05362	0.1021:0.1053:0.382:0.4106	.	2651	O60494	CUBN_HUMAN	H	2651	ENSP00000367064:P2651H	ENSP00000367064:P2651H	P	-	2	0	0	CUBN	16986081	16986081	0.968000	0.33430	0.001000	0.08648	0.177000	0.22998	2.237000	0.43061	0.693000	0.31634	0.591000	0.81541	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.081598	1	0.170000	NM_001081			72	72		293	291	1		1	0		0	0	83	0		1	0	0	0	0	1	0	72	293
CUBN	8029	broad.mit.edu	37	10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T	rs199864467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2566					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)			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)	CCTGCATCTTCACTGGAGGTA	0.458																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(7696-7698)Gaa>Aaa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						79.0	67.0	71.0					10																	16949516		2203	4300	6503	SO:0001583	missense	8029	1	121412	26				g.chr10:16949516C>T	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.7696G>A	chr10.hg19:g.16949516C>T	ENSP00000367064:p.Glu2566Lys	0						p.E2566K	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		49	7761	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.7696G>A	CCDS7113.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.467395	0.96257	.	.	ENSG00000107611	ENST00000377833	T	0.77098	-1.07	5.23	5.23	0.72850	5.23	5.23	0.72850	CUB (2);	0.279331	0.25540	N	0.029974	D	0.83133	0.5188	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	P	0.59115	0.852	T	0.82910	-0.0223	10	0.46703	T	0.11	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2566	O60494	CUBN_HUMAN	K	2566	ENSP00000367064:E2566K	ENSP00000367064:E2566K	E	-	1	0	0	CUBN	16989522	16989522	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.287000	0.65645	2.603000	0.88011	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001081			51	51		238	233	1		1	0		0	0	66	0		1	3.243421e-02	0	0	0	2	0	51	238
CUBN	8029	broad.mit.edu	37	10	17113893	17113893	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	793	CUB 3. {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)			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)	TGATCCAGACACTATTAGTAA	0.333																																						ENST00000377833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				241						c.(2377-2379)agT>agC		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						57.0	57.0	57.0					10																	17113893		2203	4299	6502	SO:0001819	synonymous_variant	8029	0	0					g.chr10:17113893A>G	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.2379T>C	chr10.hg19:g.17113893A>G		0						p.S793S	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		18	2444	-			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	1	1	hg19	c.2379T>C	CCDS7113.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_001081			36	36		152	150	1		1			0	0	61	0		1	0	0	0	0	0	0	36	152
CUBN	8029	broad.mit.edu	37	10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	791	CUB 3. {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)			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)	GACACTATTAGTAATGGATTT	0.333																																						ENST00000377833.4	1.000000	0.790000	1	9.900000e-01	0.990000	0.983270	0.990000	1.000000																										0				241						c.(2371-2373)aCt>aTt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						55.0	55.0	55.0					10																	17113900		2203	4299	6502	SO:0001583	missense	8029	0	0					g.chr10:17113900G>A	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.2372C>T	chr10.hg19:g.17113900G>A	ENSP00000367064:p.Thr791Ile	0						p.T791I	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		18	2437	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.2372C>T	CCDS7113.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049988	0.55218	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.31	4.39	0.52855	5.31	4.39	0.52855	CUB (5);	1.052280	0.07594	N	0.922464	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	P	0.48016	0.904	P	0.50136	0.632	T	0.19451	-1.0305	10	0.66056	D	0.02	.	15.1678	0.72842	0.0:0.3347:0.6653:0.0	.	791	O60494	CUBN_HUMAN	I	791	ENSP00000367064:T791I	ENSP00000367064:T791I	T	-	2	0	0	CUBN	17153906	17153906	1.000000	0.71417	0.571000	0.28486	0.745000	0.42441	5.152000	0.64882	1.224000	0.43551	0.454000	0.30748	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_001081			19	19		161	159	1		1			0	0	54	0		9.999925e-01	0	0	0	0	0	0	19	161
CUBN	8029	broad.mit.edu	37	10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	43					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)			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)	TGTAGCCATTCGAGGCCTATA	0.348													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		15410	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4	1.000000	0.240000	6.500000e-01	3.400000e-01	0.470000	0.510553	0.470000	0.440000																										0				241						c.(127-129)cGa>cAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	GLN/ARG	9,4395	14.3+/-33.2	0,9,2193	55.0	57.0	56.0		128	5.2	0.9	10	dbSNP_134	56	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	43	0,9,6493	TT,TC,CC		0.0,0.2044,0.0692	probably-damaging	43/3624	17171244	9,12995	2202	4300	6502	SO:0001583	missense	8029	21	121404	45				g.chr10:17171244C>T	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.128G>A	chr10.hg19:g.17171244C>T	ENSP00000367064:p.Arg43Gln	0					CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	p.R43Q	NM_001081.3	NP_001072.2	1	2	3	2.000167	O60494	CUBN_HUMAN		2	193	-			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	1	1	hg19	c.128G>A	CCDS7113.1	0	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	26.1	4.702199	0.88924	0.002044	0.0	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.91237	-1.26;-2.81	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.37261	N	0.002177	D	0.94026	0.8086	M	0.66939	2.045	0.43545	D	0.995849	D	0.89917	1.0	D	0.63957	0.92	D	0.92953	0.6382	10	0.36615	T	0.2	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	43	O60494	CUBN_HUMAN	Q	43	ENSP00000367064:R43Q;ENSP00000367054:R43Q	ENSP00000367054:R43Q	R	-	2	0	0	CUBN	17211250	17211250	0.999000	0.42202	0.871000	0.34182	0.916000	0.54674	5.259000	0.65485	2.598000	0.87819	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.075755	1	0.170000	NM_001081			11	11		277	274	0		1			0	0	62	0		9.983251e-01	0	0	0	0	0	0	11	277
TRDMT1	1787	broad.mit.edu	37	10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	67	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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAAAGATAATCTGTCAAACTC	0.378																																						ENST00000377799.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998648	0.990000	1.000000																										0				18						c.(199-201)aGa>aTa		tRNA aspartic acid methyltransferase 1	Pentamidine(DB00738)						72.0	71.0	72.0					10																	17210891		2203	4300	6503	SO:0001583	missense	1787	0	0					g.chr10:17210891C>A	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.200G>T	chr10.hg19:g.17210891C>A	ENSP00000367030:p.Arg67Ile	0					TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron	p.R67I	NM_004412.5	NP_004403.1	1	2	3	2.000167	O14717	TRDMT_HUMAN		3	247	-			B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	1	1	hg19	c.200G>T	CCDS7114.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439433|2.439433	0.43326|0.43326	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86	5.95|5.95	1.06|1.06	0.20224|0.20224	5.95|5.95	1.06|1.06	0.20224|0.20224	.|.	.|0.530170	.|0.22507	.|N	.|0.059146	T|T	0.76751|0.76751	0.4031|0.4031	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B;B	.|0.43519	.|0.809;0.23;0.051	.|B;B;B	.|0.41332	.|0.354;0.06;0.033	T|T	0.68337|0.68337	-0.5435|-0.5435	5|10	.|0.62326	.|D	.|0.03	-8.0424|-8.0424	6.9518|6.9518	0.24550|0.24550	0.0:0.465:0.1221:0.4129|0.0:0.465:0.1221:0.4129	.|.	.|67;67;67	.|O14717-3;O14717-2;O14717	.|.;.;TRDMT_HUMAN	H|I	46|67;67;67;49	.|ENSP00000367030:R67I;ENSP00000409354:R67I;ENSP00000324328:R67I;ENSP00000431476:R49I	.|ENSP00000324328:R67I	Q|R	-|-	3|2	2|0	2|0	TRDMT1|TRDMT1	17250897|17250897	17250897|17250897	0.865000|0.865000	0.29922|0.29922	0.979000|0.979000	0.43373|0.43373	0.948000|0.948000	0.59901|0.59901	0.359000|0.359000	0.20233|0.20233	0.281000|0.281000	0.22233|0.22233	0.650000|0.650000	0.86243|0.86243	CAG|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_004412			17	17		99	95	1		1	0		0	0	26	0		9.999703e-01	3.499171e-01	0	0	0	8	0	17	99
VIM	7431	broad.mit.edu	37	10	17276772	17276772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000224237.5	+	5	1108	c.963A>G	c.(961-963)agA>agG	p.R321R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R321R			P08670	VIME_HUMAN	vimentin	321	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522																																						ENST00000224237.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				38						c.(961-963)agA>agG		vimentin							85.0	77.0	80.0					10																	17276772		2203	4300	6503	SO:0001819	synonymous_variant	7431	0	0					g.chr10:17276772A>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.963A>G	chr10.hg19:g.17276772A>G		0					RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R321R	p.R321R			1	2	3	2.000167	P08670	VIME_HUMAN		5	1108	+			B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	1	1	hg19	c.963A>G	CCDS7120.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_003380			51	51		281	277	0		1	1		0	0	93	0		1	1	0	335	0	6444	0	51	281
VIM	7431	broad.mit.edu	37	10	17277377	17277377	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000224237.5	+	6	1363	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.G406G			P08670	VIME_HUMAN	vimentin	406	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502																																						ENST00000224237.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1216-1218)ggC>ggA		vimentin							83.0	79.0	80.0					10																	17277377		2203	4300	6503	SO:0001819	synonymous_variant	7431	0	0					g.chr10:17277377C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1218C>A	chr10.hg19:g.17277377C>A		0					RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.G406G	p.G406G			1	2	3	2.000167	P08670	VIME_HUMAN		6	1363	+			B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	1	1	hg19	c.1218C>A	CCDS7120.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_003380			58	56		264	261	0		1	1		0	0	69	0		1	1	0	341	0	6950	0	58	264
PTPLA	9200	broad.mit.edu	37	10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	252					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289																																						ENST00000361271.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999496	0.990000	1.000000																										0				13						c.(754-756)Ctt>Att		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							58.0	61.0	60.0					10																	17636234		2202	4295	6497	SO:0001583	missense	9200	0	0					g.chr10:17636234G>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.754C>A	chr10.hg19:g.17636234G>T	ENSP00000355308:p.Leu252Ile	0						p.L252I	NM_014241.3	NP_055056.3	1	2	3	2.000167	B0YJ81	HACD1_HUMAN		6	791	-			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	1	1	hg19	c.754C>A	CCDS7121.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892142	0.91889	.	.	ENSG00000165996	ENST00000361271	T	0.36340	1.26	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72353	2.195	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.55667	-0.8105	10	0.59425	D	0.04	-21.2146	20.2406	0.98372	0.0:0.0:1.0:0.0	.	252	B0YJ81	HACD1_HUMAN	I	252	ENSP00000355308:L252I	ENSP00000355308:L252I	L	-	1	0	0	PTPLA	17676240	17676240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.846000	0.99502	2.857000	0.98124	0.650000	0.86243	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-15.546600	1	0.170000	NM_014241			34	33		233	232	1		1	0		0	0	85	0		1	3.305573e-01	0	1	0	8	0	34	233
STAM	8027	broad.mit.edu	37	10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	110	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)|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)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323																																						ENST00000377524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(328-330)gCt>gTt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1		C	VAL/ALA	0,4406		0,0,2203	101.0	108.0	105.0		329	5.8	1.0	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAM	NM_003473.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	110/541	17730057	1,13005	2203	4300	6503	SO:0001583	missense	8027	0	0					g.chr10:17730057C>T	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.329C>T	chr10.hg19:g.17730057C>T	ENSP00000366746:p.Ala110Val	0					STAM_ENST00000540523.1_5'UTR	p.A110V	NM_003473.3	NP_003464.1	1	2	3	2.000167	Q92783	STAM1_HUMAN		5	544	+			B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	1	1	hg19	c.329C>T	CCDS7122.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474386	0.84640	0.0	1.16E-4	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	T	0.23147	1.92	5.83	5.83	0.93111	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.102265	0.64402	D	0.000002	T	0.34978	0.0916	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	P	0.51297	0.665	T	0.00708	-1.1600	10	0.34782	T	0.22	-23.4298	20.1133	0.97917	0.0:1.0:0.0:0.0	.	110	Q92783	STAM1_HUMAN	V	110;60;13	ENSP00000366746:A110V	ENSP00000366721:A13V	A	+	2	0	0	STAM	17770063	17770063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.762000	0.94881	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_003473			88	87		433	427	1		1	1		0	0	114	0		1	9.999974e-01	0	20	0	72	0	88	433
STAM	8027	broad.mit.edu	37	10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	394					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)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393																																						ENST00000377524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1180-1182)Atg>Gtg		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							162.0	158.0	159.0					10																	17747711		2203	4300	6503	SO:0001583	missense	8027	0	0					g.chr10:17747711A>G	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.1180A>G	chr10.hg19:g.17747711A>G	ENSP00000366746:p.Met394Val	0					STAM_ENST00000540523.1_Missense_Mutation_p.M283V	p.M394V	NM_003473.3	NP_003464.1	1	2	3	2.000167	Q92783	STAM1_HUMAN		12	1395	+			B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	1	1	hg19	c.1180A>G	CCDS7122.1	1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099491	0.08681	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38560	1.44;1.13	5.73	0.684	0.18003	5.73	0.684	0.18003	.	0.190228	0.64402	N	0.000004	T	0.31136	0.0787	L	0.56769	1.78	0.43593	D	0.995943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08764	-1.0706	10	0.17832	T	0.49	-0.7655	5.9925	0.19474	0.664:0.1263:0.2097:0.0	.	283;394	B4DZT2;Q92783	.;STAM1_HUMAN	V	394;283	ENSP00000366746:M394V;ENSP00000438073:M283V	ENSP00000366746:M394V	M	+	1	0	0	STAM	17787717	17787717	0.988000	0.35896	0.958000	0.39756	0.898000	0.52572	2.453000	0.44970	-0.115000	0.11915	0.533000	0.62120	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_003473			117	110		576	558	1		1	1		0	0	89	0		1	9.999969e-01	0	30	0	59	0	117	576
STAM	8027	broad.mit.edu	37	10	17750861	17750861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	432					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)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572																																						ENST00000377524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1294-1296)ccG>ccA		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							89.0	87.0	88.0					10																	17750861		2203	4300	6503	SO:0001819	synonymous_variant	8027	0	0					g.chr10:17750861G>A	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.1296G>A	chr10.hg19:g.17750861G>A		0					STAM_ENST00000540523.1_Silent_p.P321P	p.P432P	NM_003473.3	NP_003464.1	1	2	3	2.000167	Q92783	STAM1_HUMAN		13	1511	+			B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	1	1	hg19	c.1296G>A	CCDS7122.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	0	0	1		17	6	2	1		1	1	112		112	111	1	2.060000	-2.799393	1	0.170000	NM_003473			107	106		442	431	1		1	1		1	0	112	0		1	9.999991e-01	0	32	0	99	0	107	442
SLC39A12	221074	broad.mit.edu	37	10	18250690	18250690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377369.2	+	3	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L|SLC39A12_ENST00000377371.3_Silent_p.L148L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	148					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393																																						ENST00000377369.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(442-444)Ctg>Ttg		solute carrier family 39 (zinc transporter), member 12							82.0	86.0	85.0					10																	18250690		2203	4300	6503	SO:0001819	synonymous_variant	221074	0	0					g.chr10:18250690C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.442C>T	chr10.hg19:g.18250690C>T		0					SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L|SLC39A12_ENST00000377371.3_Silent_p.L148L	p.L148L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	1	2	3	2.000167	Q504Y0	S39AC_HUMAN		3	715	+			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	1	1	hg19	c.442C>T	CCDS44362.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_152725			64	63		295	289	1		1			0	0	60	0		1	0	0	0	0	0	0	64	295
SLC39A12	221074	broad.mit.edu	37	10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377369.2	+	10	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	516					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353																																						ENST00000377369.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1546-1548)Gat>Aat		solute carrier family 39 (zinc transporter), member 12							47.0	54.0	52.0					10																	18284597		2203	4300	6503	SO:0001583	missense	221074	0	0					g.chr10:18284597G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1546G>A	chr10.hg19:g.18284597G>A	ENSP00000366586:p.Asp516Asn	0					SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N	p.D516N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	1	2	3	2.000167	Q504Y0	S39AC_HUMAN		10	1819	+			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	1	1	hg19	c.1546G>A	CCDS44362.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112274	0.77210	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.65	4.65	0.58169	4.65	4.65	0.58169	.	1.707740	0.03073	N	0.157493	T	0.66973	0.2844	L	0.58969	1.84	0.51482	D	0.999928	D;B;D	0.61697	0.99;0.018;0.99	P;B;P	0.62014	0.897;0.1;0.897	T	0.50964	-0.8765	10	0.33141	T	0.24	-13.3985	14.7473	0.69499	0.0:0.0:1.0:0.0	.	515;516;479	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	516;479;515;382;436	ENSP00000366586:D516N;ENSP00000366591:D479N;ENSP00000366588:D515N;ENSP00000440445:D382N	ENSP00000366586:D516N	D	+	1	0	0	SLC39A12	18324603	18324603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_152725			51	51		221	217	1		1			0	0	71	0		1	0	0	0	0	0	0	51	221
CACNB2	783	broad.mit.edu	37	10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000324631.7	+	9	964	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000396576.2_Missense_Mutation_p.K247Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338																																						ENST00000324631.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(904-906)Aaa>Caa		calcium channel, voltage-dependent, beta 2 subunit	Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)						150.0	150.0	150.0					10																	18807857		2203	4300	6503	SO:0001583	missense	783	0	0					g.chr10:18807857A>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.904A>C	chr10.hg19:g.18807857A>C	ENSP00000320025:p.Lys302Gln	0					CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000396576.2_Missense_Mutation_p.K247Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron	p.K302Q	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	1	2	3	2.000167	Q08289	CACB2_HUMAN		9	964	+			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	1	1	hg19	c.904A>C	CCDS7125.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694579	0.88830	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.3	5.3	0.74995	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.998;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.996;0.999;0.995;0.999;0.991;0.999;0.998;0.991;0.998;0.999	D	0.94080	0.7343	10	0.87932	D	0	-22.4243	14.3496	0.66691	1.0:0.0:0.0:0.0	.	216;216;248;274;254;224;248;258;209;250;274;264;278;302	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	302;278;274;250;247;209;248;254	ENSP00000320025:K302Q;ENSP00000344474:K278Q;ENSP00000282343:K274Q;ENSP00000366548:K250Q;ENSP00000379821:K247Q;ENSP00000366536:K209Q;ENSP00000366546:K248Q;ENSP00000366532:K254Q	ENSP00000282343:K274Q	K	+	1	0	0	CACNB2	18847863	18847863	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.838000	0.92115	2.137000	0.66172	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-20.000000	1	0.170000	NM_000724			107	107		510	503	1		1	0		0	0	110	0		1	0	0	0	0	1	0	107	510
CACNB2	783	broad.mit.edu	37	10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000324631.7	+	11	1232	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|RP11-499P20.2_ENST00000425669.1_RNA|RP11-383B4.4_ENST00000433526.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368																																						ENST00000324631.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1171-1173)cCt>cAt		calcium channel, voltage-dependent, beta 2 subunit	Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)						101.0	110.0	107.0					10																	18823122		2203	4300	6503	SO:0001583	missense	783	0	0					g.chr10:18823122C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1172C>A	chr10.hg19:g.18823122C>A	ENSP00000320025:p.Pro391His	0					CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|RP11-499P20.2_ENST00000425669.1_RNA|RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000377328.1_Intron	p.P391H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	1	2	3	2.000167	Q08289	CACB2_HUMAN		11	1232	+			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	1	1	hg19	c.1172C>A	CCDS7125.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972435	0.92919	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.54	5.54	0.83059	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	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	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	391;367;363;339;336;298;337;343	ENSP00000320025:P391H;ENSP00000344474:P367H;ENSP00000282343:P363H;ENSP00000366548:P339H;ENSP00000379821:P336H;ENSP00000366536:P298H;ENSP00000366546:P337H;ENSP00000366532:P343H	ENSP00000282343:P363H	P	+	2	0	0	CACNB2	18863128	18863128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-2.967197	1	0.170000	NM_000724			107	104		583	571	1		1			0	0	125	0		1	0	0	0	0	0	0	107	583
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A	rs184280124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000324631.7	+	14	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|RP11-499P20.2_ENST00000425669.1_RNA|RP11-499P20.2_ENST00000436485.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					ENST00000324631.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.R507H(1)|p.R476H(1)|p.R477H(1)	lung(3)	31						c.(1591-1593)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)						91.0	85.0	87.0					10																	18828262		2203	4300	6503	SO:0001583	missense	783	9	121412	43				g.chr10:18828262G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1592G>A	chr10.hg19:g.18828262G>A	ENSP00000320025:p.Arg531His	0					CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H	p.R531H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	1	2	3	2.000167	Q08289	CACB2_HUMAN		14	1652	+			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	1	1	hg19	c.1592G>A	CCDS7125.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	0	CACNB2	18868268	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.077691	1	0.170000	NM_000724			53	50		253	249	1		1	0		0	0	72	0		1	1.444282e-01	0	0	0	4	0	53	253
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|RP11-499P20.2_ENST00000425669.1_RNA|RP11-499P20.2_ENST00000436485.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527																																						ENST00000324631.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1897-1899)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)						69.0	64.0	66.0					10																	18828568		2203	4300	6503	SO:0001583	missense	783	4	121412	35				g.chr10:18828568G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1898G>A	chr10.hg19:g.18828568G>A	ENSP00000320025:p.Arg633His	0					CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H	p.R633H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	1	2	3	2.000167	Q08289	CACB2_HUMAN		14	1958	+			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	1	1	hg19	c.1898G>A	CCDS7125.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	0	CACNB2	18868574	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_000724			69	69		378	366	1		1	0		0	0	83	0		1	1.765389e-01	0	0	0	5	0	69	378
PLXDC2	84898	broad.mit.edu	37	10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537																																						ENST00000377252.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(229-231)aCg>aTg		plexin domain containing 2							92.0	75.0	81.0					10																	20290821		2203	4300	6503	SO:0001583	missense	84898	3	121404	33				g.chr10:20290821C>T	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.230C>T	chr10.hg19:g.20290821C>T	ENSP00000366460:p.Thr77Met	0					PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	1	2	3	2.000167	Q6UX71	PXDC2_HUMAN		2	1071	+			Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	1	1	hg19	c.230C>T	CCDS7132.1	1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249061	0.59103	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.31769	1.79;1.48	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.193759	0.56097	D	0.000039	T	0.42607	0.1210	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.53490	0.727;0.538	T	0.20174	-1.0283	10	0.87932	D	0	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	77;77;63	ENSP00000366460:T77M;ENSP00000366450:T77M	ENSP00000366450:T77M	T	+	2	0	0	PLXDC2	20330827	20330827	0.992000	0.36948	0.751000	0.31187	0.018000	0.09664	3.495000	0.53280	2.808000	0.96608	0.650000	0.86243	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_032812			39	38		160	158	1		1	0		0	0	36	0		1	1	0	0	0	297	0	39	160
PLXDC2	84898	broad.mit.edu	37	10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T	rs367982414		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	191					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333																																						ENST00000377252.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(571-573)Cga>Tga		plexin domain containing 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	148.0	151.0		571	4.9	1.0	10		151	0,8600		0,0,4300	no	stop-gained	PLXDC2	NM_032812.7		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		191/530	20432253	1,13005	2203	4300	6503	SO:0001587	stop_gained	84898	1	121412	37				g.chr10:20432253C>T	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.571C>T	chr10.hg19:g.20432253C>T	ENSP00000366460:p.Arg191*	0					PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	p.R191*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	1	2	3	2.000167	Q6UX71	PXDC2_HUMAN		5	1412	+			Q96E59|Q96PD9|Q96SU9	Nonsense_Mutation	SNP	ENST00000377252.4	0	1	hg19	c.571C>T	CCDS7132.1	1	.	.	.	.	.	.	.	.	.	.	C	46	12.108986	0.99637	2.27E-4	0.0	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.82	4.9	0.64082	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1463	0.81575	0.1346:0.8654:0.0:0.0	.	.	.	.	X	191;142;54;177	.	ENSP00000366446:R54X	R	+	1	2	2	PLXDC2	20472259	20472259	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.678000	0.61641	1.425000	0.47237	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_032812			86	83		436	431	1		1	0		0	0	114	0		1	1	0	0	0	214	0	86	436
NEBL	10529	broad.mit.edu	37	10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858). {ECO:0000305}.	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)			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						TTTACATGGTTTAGCATAGGA	0.313																																						ENST00000377122.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(223-225)Aac>Cac		nebulette							98.0	100.0	100.0					10																	21178809		2202	4300	6502	SO:0001583	missense	10529	0	0					g.chr10:21178809T>G	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.223A>C	chr10.hg19:g.21178809T>G	ENSP00000366326:p.Asn75His	0					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H	p.N75H	NM_006393.2	NP_006384.1	1	2	3	2.000167	O76041	NEBL_HUMAN		3	619	-			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	1	1	hg19	c.223A>C	CCDS7134.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254167	0.80135	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.317378	0.35067	N	0.003462	T	0.40448	0.1117	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	T	0.08868	-1.0701	10	0.44086	T	0.13	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	75	O76041	NEBL_HUMAN	H	75;75;59	ENSP00000366326:N75H;ENSP00000366323:N75H;ENSP00000396512:N59H	ENSP00000366323:N75H	N	-	1	0	0	NEBL	21218815	21218815	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.617000	0.54181	2.371000	0.80710	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_006393			58	58		274	271	1		1			0	0	79	0		1	0	0	0	0	0	0	58	274
NEBL	10529	broad.mit.edu	37	10	21309118	21309118	+	Silent	SNP	C	C	T	rs367567398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	104				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858). {ECO:0000305}.	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)			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						TGAAGGACTGCTTCGGGTAGT	0.413																																						ENST00000417816.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(175-177)aaG>aaA		nebulette		C	,	0,4406		0,0,2203	97.0	92.0	94.0		177,177	4.3	1.0	10		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NEBL	NM_001173484.1,NM_213569.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	59/225,59/271	21309118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10529	2	121412	33				g.chr10:21309118C>T	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	ENST00000417816.2:c.177G>A	chr10.hg19:g.21309118C>T		0					NEBL_ENST00000377159.4_Silent_p.K25K	p.K59K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	1	2	3	2.000167	O76041	NEBL_HUMAN		3	530	-			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	1	1	hg19	c.177G>A	CCDS7133.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_006393			80	79		293	285	1		1	1		0	0	74	0		1	1	0	37	0	58	0	80	293
MLLT10	8028	broad.mit.edu	37	10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000307729.7	+	11	1694	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	506	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000307729.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10p12	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""				L	L	MLL, PICALM, CDK6		AL		0				6						c.(1516-1518)Tca>Cca		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							96.0	94.0	94.0					10																	21962743		2203	4300	6503	SO:0001583	missense	8028	0	0					g.chr10:21962743T>C	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.1516T>C	chr10.hg19:g.21962743T>C	ENSP00000307411:p.Ser506Pro	0					MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S506P	p.S506P			1	2	3	2.000167	P55197	AF10_HUMAN		11	1694	+			B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	1	1	hg19	c.1516T>C	CCDS55708.1	1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495950	0.64186	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.33;2.44;2.45;2.44	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.494770	0.22510	N	0.059111	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.65815	0.867;0.966;0.995;0.973	P;P;P;P	0.56278	0.623;0.598;0.795;0.674	T	0.01242	-1.1408	10	0.51188	T	0.08	.	15.823	0.78673	0.0:0.0:0.0:1.0	.	352;506;506;506	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	506;506;506;352;506;149;148	ENSP00000366272:S506P;ENSP00000401406:S506P;ENSP00000307411:S506P;ENSP00000366258:S506P	ENSP00000307411:S506P	S	+	1	0	0	MLLT10	22002749	22002749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.149000	0.67028	0.477000	0.44152	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000				93	93		285	280	1		1	1		0	0	98	0		1	9.986039e-01	0	7	0	26	0	93	285
MLLT10	8028	broad.mit.edu	37	10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000307729.7	+	17	2385	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I|MLLT10_ENST00000377072.3_Missense_Mutation_p.T752I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	736	Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000307729.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10p12	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""				L	L	MLL, PICALM, CDK6		AL		0				6						c.(2206-2208)aCt>aTt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							151.0	144.0	146.0					10																	22019972		2203	4300	6503	SO:0001583	missense	8028	0	0					g.chr10:22019972C>T	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.2207C>T	chr10.hg19:g.22019972C>T	ENSP00000307411:p.Thr736Ile	0					MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000377072.3_Missense_Mutation_p.T752I	p.T736I			1	2	3	2.000167	P55197	AF10_HUMAN		17	2385	+			B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	1	1	hg19	c.2207C>T	CCDS55708.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595286	0.86953	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.150213	0.64402	D	0.000012	T	0.26011	0.0634	L	0.41236	1.265	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;D	0.83275	0.996;0.991;0.795;0.991	T	0.00899	-1.1522	10	0.30078	T	0.28	.	18.9445	0.92616	0.0:1.0:0.0:0.0	.	431;736;736;752	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	752;736;736;571;736	ENSP00000366272:T752I;ENSP00000401406:T736I;ENSP00000307411:T736I;ENSP00000366258:T736I	ENSP00000307411:T736I	T	+	2	0	0	MLLT10	22059978	22059978	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.020000	0.76419	2.466000	0.83321	0.561000	0.74099	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000				102	99		580	568	1		1	1		0	0	124	0		1	9.845017e-01	0	3	0	36	0	102	580
MLLT10	8028	broad.mit.edu	37	10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000307729.7	+	20	2957	c.2779T>C	c.(2779-2781)Tcc>Ccc	p.S927P	MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S943P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	927					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)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000307729.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10p12	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""				L	L	MLL, PICALM, CDK6		AL		0				6						c.(2779-2781)Tcc>Ccc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							119.0	99.0	106.0					10																	22022979		2203	4300	6503	SO:0001583	missense	8028	0	0					g.chr10:22022979T>C	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.2779T>C	chr10.hg19:g.22022979T>C	ENSP00000307411:p.Ser927Pro	0					MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S943P	p.S927P			1	2	3	2.000167	P55197	AF10_HUMAN		20	2957	+			B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	1	1	hg19	c.2779T>C	CCDS55708.1	1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550030	0.27652	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16897	2.31;2.32;2.32;2.32	4.94	2.55	0.30701	4.94	2.55	0.30701	.	0.530450	0.21640	N	0.071348	T	0.06735	0.0172	N	0.05124	-0.11	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.0;0.005	B;B;B;B	0.11329	0.006;0.003;0.0;0.003	T	0.26189	-1.0110	10	0.30078	T	0.28	.	4.0468	0.09776	0.1548:0.1592:0.0:0.6859	.	622;927;927;943	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	943;927;927;762;927	ENSP00000366272:S943P;ENSP00000401406:S927P;ENSP00000307411:S927P;ENSP00000366258:S927P	ENSP00000307411:S927P	S	+	1	0	0	MLLT10	22062985	22062985	0.997000	0.39634	0.938000	0.37757	0.950000	0.60333	0.429000	0.21412	0.685000	0.31468	0.455000	0.32223	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				61	60		261	256	1		1	1		0	0	66	0		1	9.999492e-01	0	14	0	51	0	61	261
DNAJC1	64215	broad.mit.edu	37	10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	482					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562																																						ENST00000376980.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1444-1446)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 1							103.0	100.0	101.0					10																	22048251		2203	4300	6503	SO:0001583	missense	64215	1	121412	32				g.chr10:22048251C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1444G>A	chr10.hg19:g.22048251C>T	ENSP00000366179:p.Glu482Lys	0					DNAJC1_ENST00000483085.1_5'Flank	p.E482K	NM_022365.3	NP_071760.2	1	2	3	2.000167	Q96KC8	DNJC1_HUMAN		11	1734	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	1	1	hg19	c.1444G>A	CCDS7136.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035396	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.65178	-0.14	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.580607	0.19233	N	0.119344	T	0.57475	0.2056	L	0.59436	1.845	0.80722	D	1	D;P	0.59357	0.985;0.824	B;B	0.43155	0.41;0.083	T	0.54125	-0.8340	10	0.15066	T	0.55	-5.0347	13.0501	0.58950	0.0:0.9265:0.0:0.0735	.	203;482	Q96NY3;Q96KC8	.;DNJC1_HUMAN	K	482	ENSP00000366179:E482K	ENSP00000366179:E482K	E	-	1	0	0	DNAJC1	22088257	22088257	0.998000	0.40836	1.000000	0.80357	0.506000	0.33950	4.877000	0.63086	2.697000	0.92050	0.491000	0.48974	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-3.266984	1	0.170000	NM_022365			124	122		506	494	1		1	1		0	0	92	0		1	1	0	57	0	253	0	124	506
DNAJC1	64215	broad.mit.edu	37	10	22048286	22048286	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048286T>C	ENST00000376980.3	-	11	1699	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	470					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATGTCAAAGTCCTTCTGCCG	0.587																																						ENST00000376980.3	1.000000	0.130000	3.700000e-01	1.900000e-01	0.260000	0.313749	0.260000	0.250000																										0				21						c.(1408-1410)gAc>gGc		DnaJ (Hsp40) homolog, subfamily C, member 1							99.0	96.0	97.0					10																	22048286		2203	4300	6503	SO:0001583	missense	64215	0	0					g.chr10:22048286T>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1409A>G	chr10.hg19:g.22048286T>C	ENSP00000366179:p.Asp470Gly	0					DNAJC1_ENST00000483085.1_5'Flank	p.D470G	NM_022365.3	NP_071760.2	1	2	3	2.000167	Q96KC8	DNJC1_HUMAN		11	1699	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	0	1	hg19	c.1409A>G	CCDS7136.1	0	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531884	0.64972	.	.	ENSG00000136770	ENST00000376980	T	0.66815	-0.23	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.100975	0.64402	D	0.000003	T	0.80571	0.4648	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.82575	-0.0389	10	0.72032	D	0.01	-7.77	15.7332	0.77822	0.0:0.0:0.0:1.0	.	191;470	Q96NY3;Q96KC8	.;DNJC1_HUMAN	G	470	ENSP00000366179:D470G	ENSP00000366179:D470G	D	-	2	0	0	DNAJC1	22088292	22088292	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.948000	0.87774	2.132000	0.65825	0.402000	0.26972	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	0	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-3.391675	1	0.170000	NM_022365			11	12		502	493	0		1	1		0	0	69	0		9.982147e-01	9.763258e-01	0	7	0	284	0	11	502
BMI1	648	broad.mit.edu	37	10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	RP11-573G6.9_ENST00000606988.1_lincRNA|COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	315	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.S315L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCTCGAAAATCATCAGTAAAT	0.403																																						ENST00000376663.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S315L(1)	skin(1)	12						c.(943-945)tCa>tAa		BMI1 proto-oncogene, polycomb ring finger							122.0	118.0	119.0					10																	22618434		2203	4300	6503	SO:0001587	stop_gained	648	0	0					g.chr10:22618434C>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.944C>A	chr10.hg19:g.22618434C>A	ENSP00000365851:p.Ser315*	0					COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*|RP11-573G6.9_ENST00000606988.1_lincRNA	p.S315*	NM_005180.8	NP_005171.4	1	2	3	2.000167	P35226	BMI1_HUMAN		10	1449	+			Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	0	1	hg19	c.944C>A	CCDS7138.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.341758	0.97489	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.421653	0.25817	N	0.028101	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.5961	12.541	0.56169	0.0:0.9231:0.0:0.0769	.	.	.	.	X	227;315	.	ENSP00000365851:S315X	S	+	2	0	0	BMI1	22658440	22658440	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	4.119000	0.57891	2.638000	0.89438	0.650000	0.86243	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_005180			65	64		307	298	1		1	1		0	0	99	0		1	1	0	32	0	135	0	65	307
SPAG6	9576	broad.mit.edu	37	10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376624.3	+	7	1091	c.949C>A	c.(949-951)Ctt>Att	p.L317I	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	317					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)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468																																						ENST00000376624.3	1.000000	0.750000	1	9.300000e-01	0.990000	0.972450	0.990000	1.000000																										0				27						c.(949-951)Ctt>Att		sperm associated antigen 6							187.0	157.0	167.0					10																	22678185		2203	4300	6503	SO:0001583	missense	9576	0	0					g.chr10:22678185C>A	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.949C>A	chr10.hg19:g.22678185C>A	ENSP00000365811:p.Leu317Ile	0					SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I	p.L317I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	1	2	3	2.000167	O75602	SPAG6_HUMAN		7	1091	+			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	1	1	hg19	c.949C>A	CCDS7139.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981469	0.74474	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.74526	-0.85;0.62;-0.85;-0.85	5.74	5.74	0.90152	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.44195	0.736;0.668;0.828;0.828	B;P;B;B	0.47162	0.255;0.54;0.31;0.333	T	0.71570	-0.4553	10	0.30854	T	0.27	-16.9601	19.9238	0.97097	0.0:1.0:0.0:0.0	.	292;393;317;317	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	317;393;292;317	ENSP00000365811:L317I;ENSP00000365788:L393I;ENSP00000441325:L292I;ENSP00000323599:L317I	ENSP00000323599:L317I	L	+	1	0	0	SPAG6	22718191	22718191	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.570000	0.82390	2.712000	0.92718	0.650000	0.86243	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000				24	24		227	222	1		1	0		0	0	61	0		9.999997e-01	2.820256e-02	0	0	0	3	0	24	227
SPAG6	9576	broad.mit.edu	37	10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376624.3	+	10	1485	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	448					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)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000376624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1342-1344)cGa>cAa		sperm associated antigen 6		G	GLN/ARG,	0,4406		0,0,2203	74.0	73.0	73.0		1343,	3.9	0.0	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	SPAG6	NM_012443.2,NM_172242.1	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	448/510,	22699988	1,13005	2203	4300	6503	SO:0001583	missense	9576	6	121412	39				g.chr10:22699988G>A	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.1343G>A	chr10.hg19:g.22699988G>A	ENSP00000365811:p.Arg448Gln	0					SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000313311.6_Intron	p.R448Q	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	1	2	3	2.000167	O75602	SPAG6_HUMAN		10	1485	+			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	1	1	hg19	c.1343G>A	CCDS7139.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.38	3.106882	0.56291	0.0	1.16E-4	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63913	-0.07;-0.07;0.75;-0.07	5.97	3.9	0.45041	5.97	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	N	0.000004	T	0.61274	0.2334	M	0.77616	2.38	0.36197	D	0.850442	P;P;P	0.51653	0.947;0.945;0.947	B;P;B	0.46758	0.277;0.526;0.206	T	0.67639	-0.5619	10	0.05351	T	0.99	-11.9705	10.7739	0.46338	0.173:0.0:0.827:0.0	.	423;524;448	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	Q	448;524;209;423	ENSP00000365811:R448Q;ENSP00000365788:R524Q;ENSP00000365786:R209Q;ENSP00000441325:R423Q	ENSP00000365786:R209Q	R	+	2	0	0	SPAG6	22739994	22739994	1.000000	0.71417	0.043000	0.18650	0.637000	0.38172	6.594000	0.74104	0.674000	0.31244	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				48	47		227	224	1		1	0		0	0	47	0		1	0	0	0	0	1	0	48	227
PIP4K2A	5305	broad.mit.edu	37	10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647																																						ENST00000376573.4	1.000000	0.200000	6.200000e-01	2.900000e-01	0.430000	0.471560	0.430000	0.390000																										1	Substitution - Missense(1)	p.K17N(1)	lung(1)	29						c.(49-51)aaG>aaT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							87.0	79.0	82.0					10																	23003205		2203	4300	6503	SO:0001583	missense	5305	0	0					g.chr10:23003205C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.51G>T	chr10.hg19:g.23003205C>A	ENSP00000365757:p.Lys17Asn	0					PIP4K2A_ENST00000545335.1_5'Flank	p.K17N	NM_005028.4	NP_005019.2	1	2	3	2.000167	P48426	PI42A_HUMAN		1	279	-			B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	1	1	hg19	c.51G>T	CCDS7141.1	0	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943268	0.73672	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	2	PIP4K2A	23043211	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-9.820416	1	0.170000	NM_005028			8	8		227	223	0		1	1		0	0	32	0		9.889735e-01	7.400258e-01	0	2	0	73	0	8	227
ARMC3	219681	broad.mit.edu	37	10	23287078	23287078	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ARMC3_ENST00000376528.4_Splice_Site_p.A130T|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Splice_Site_p.A393T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	393						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378																																						ENST00000298032.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				47						c.(1177-1179)Gct>Act		armadillo repeat containing 3							53.0	46.0	48.0					10																	23287078		2203	4300	6503	SO:0001630	splice_region_variant	219681	0	0					g.chr10:23287078G>A	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.1176-1G>A	chr10.hg19:g.23287078G>A		0					ARMC3_ENST00000409983.3_Splice_Site_p.A393T|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Splice_Site_p.A130T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T	p.A393T	NM_173081.3	NP_775104.2	1	2	3	2.000167	Q5W041	ARMC3_HUMAN		11	1261	+			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Splice_Site	SNP	ENST00000298032.5	1	0	hg19	c.1177G>A	CCDS7142.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.208318	0.95033	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.57	5.57	0.84162	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.206506	0.50627	N	0.000119	D	0.85182	0.5638	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.78314	0.617;0.991	D	0.84323	0.0517	10	0.40728	T	0.16	-15.2023	19.5272	0.95212	0.0:0.0:1.0:0.0	.	393;393	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	393;393;329;393;130	ENSP00000298032:A393T;ENSP00000386943:A393T;ENSP00000387288:A393T;ENSP00000365711:A130T	ENSP00000298032:A393T	A	+	1	0	0	ARMC3	23327084	23327084	0.999000	0.42202	0.370000	0.25965	0.981000	0.71138	3.217000	0.51184	2.612000	0.88384	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_173081	Missense_Mutation		24	24		111	109	1		1	0		0	0	23	0		9.999998e-01	0	0	0	0	1	0	24	111
ARMC3	219681	broad.mit.edu	37	10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	419						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473																																						ENST00000298032.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				47						c.(1255-1257)gCt>gGt		armadillo repeat containing 3							74.0	59.0	64.0					10																	23287157		2203	4300	6503	SO:0001583	missense	219681	0	0					g.chr10:23287157C>G	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.1256C>G	chr10.hg19:g.23287157C>G	ENSP00000298032:p.Ala419Gly	0					ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G	p.A419G	NM_173081.3	NP_775104.2	1	2	3	2.000167	Q5W041	ARMC3_HUMAN		11	1340	+			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	1	1	hg19	c.1256C>G	CCDS7142.1	1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680206	0.47886	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.27	5.27	0.74061	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.277507	0.40728	N	0.001023	D	0.87799	0.6268	M	0.92459	3.31	0.46096	D	0.998869	D;D	0.89917	0.998;1.0	D;D	0.77004	0.969;0.989	D	0.89573	0.3815	10	0.87932	D	0	-29.2057	9.8185	0.40867	0.0:0.7844:0.1399:0.0757	.	419;419	Q5W041-4;Q5W041	.;ARMC3_HUMAN	G	419;419;355;419;156	ENSP00000298032:A419G;ENSP00000386943:A419G;ENSP00000387288:A419G;ENSP00000365711:A156G	ENSP00000298032:A419G	A	+	2	0	0	ARMC3	23327163	23327163	0.993000	0.37304	0.705000	0.30386	0.225000	0.24961	3.558000	0.53749	2.461000	0.83175	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_173081			22	20		85	83	1		1			0	0	25	0		9.999992e-01	0	0	0	0	0	0	22	85
ARMC3	219681	broad.mit.edu	37	10	23287286	23287286	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287286C>A	ENST00000298032.5	+	11	1469	c.1385C>A	c.(1384-1386)gCt>gAt	p.A462D	ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	462						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGCTCTCGCTGTCACCGCA	0.502																																						ENST00000298032.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				47						c.(1384-1386)gCt>gAt		armadillo repeat containing 3							62.0	58.0	59.0					10																	23287286		2203	4300	6503	SO:0001583	missense	219681	0	0					g.chr10:23287286C>A	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.1385C>A	chr10.hg19:g.23287286C>A	ENSP00000298032:p.Ala462Asp	0					ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D	p.A462D	NM_173081.3	NP_775104.2	1	2	3	2.000167	Q5W041	ARMC3_HUMAN		11	1469	+			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	0	1	hg19	c.1385C>A	CCDS7142.1	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278603	0.59758	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;1.11;0.33	5.44	1.42	0.22433	5.44	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	1.058450	0.07280	N	0.870563	T	0.61689	0.2367	L	0.32530	0.975	0.09310	N	1	P;P	0.44946	0.534;0.846	B;B	0.43809	0.432;0.209	T	0.51942	-0.8641	10	0.87932	D	0	1.1344	5.6993	0.17873	0.1256:0.5985:0.0:0.2759	.	462;462	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	462;462;398;462;199	ENSP00000298032:A462D;ENSP00000386943:A462D;ENSP00000387288:A462D;ENSP00000365711:A199D	ENSP00000298032:A462D	A	+	2	0	0	ARMC3	23327292	23327292	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	0.349000	0.20055	0.002000	0.14630	0.467000	0.42956	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	0	0	0		12	2	2	1		1	1	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_173081			23	23		113	112	0		1			1	0	39	0		9.838909e-01	0	0	0	0	0	0	23	113
ARMC3	219681	broad.mit.edu	37	10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	752						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318																																						ENST00000298032.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				47						c.(2254-2256)Gca>Aca		armadillo repeat containing 3							62.0	59.0	60.0					10																	23321797		2203	4300	6503	SO:0001583	missense	219681	0	0					g.chr10:23321797G>A	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.2254G>A	chr10.hg19:g.23321797G>A	ENSP00000298032:p.Ala752Thr	0					ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T|ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T	p.A752T	NM_173081.3	NP_775104.2	1	2	3	2.000167	Q5W041	ARMC3_HUMAN		18	2338	+			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	1	1	hg19	c.2254G>A	CCDS7142.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671896	0.47781	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.49139	0.79;0.8;2.02	5.37	2.33	0.28932	5.37	2.33	0.28932	.	0.645585	0.17454	N	0.173689	T	0.52901	0.1763	L	0.58101	1.795	0.40605	D	0.981613	D;D	0.55605	0.965;0.972	P;P	0.54100	0.487;0.742	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.7438	8.5412	0.33393	0.1382:0.0:0.7369:0.125	.	745;752	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	752;745;489	ENSP00000298032:A752T;ENSP00000386943:A745T;ENSP00000365711:A489T	ENSP00000298032:A752T	A	+	1	0	0	ARMC3	23361803	23361803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.981000	0.49329	0.747000	0.32809	-0.266000	0.10368	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_173081			27	27		137	136	1		1	0		0	0	29	0		1	0	0	0	0	1	0	27	137
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542																																						ENST00000298032.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2449-2451)Cgc>Tgc		armadillo repeat containing 3							112.0	109.0	110.0					10																	23326238		2203	4300	6503	SO:0001583	missense	219681	0	0					g.chr10:23326238C>T	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.2449C>T	chr10.hg19:g.23326238C>T	ENSP00000298032:p.Arg817Cys	0					ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	p.R817C	NM_173081.3	NP_775104.2	1	2	3	2.000167	Q5W041	ARMC3_HUMAN		19	2533	+			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	1	1	hg19	c.2449C>T	CCDS7142.1	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	0	ARMC3	23366244	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.272582	1	0.170000	NM_173081			76	74		332	325	1		1	0		0	0	66	0		1	0	0	0	0	1	0	76	332
MSRB2	22921	broad.mit.edu	37	10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	181					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)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	ENST00000376510.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				9						c.(541-543)aaA>aaC		methionine sulfoxide reductase B2	L-Methionine(DB00134)						105.0	100.0	102.0					10																	23409785		1999	4151	6150	SO:0001583	missense	22921	0	0					g.chr10:23409785A>C	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.543A>C	chr10.hg19:g.23409785A>C	ENSP00000365693:p.Lys181Asn	0					MSRB2_ENST00000468633.1_3'UTR	p.K181N	NM_012228.3	NP_036360.3	1	2	3	2.000167	Q9Y3D2	MSRB2_HUMAN		5	646	+			Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	1	1	hg19	c.543A>C	CCDS41495.1	1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255142	0.39896	.	.	ENSG00000148450	ENST00000376510	T	0.76448	-1.02	5.11	-1.37	0.09056	5.11	-1.37	0.09056	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.989465	0.08160	U	0.988579	T	0.61286	0.2335	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.28991	0.097	T	0.51268	-0.8727	10	0.59425	D	0.04	2.1645	4.2583	0.10728	0.4603:0.0:0.379:0.1607	.	181	Q9Y3D2	MSRB2_HUMAN	N	181	ENSP00000365693:K181N	ENSP00000365693:K181N	K	+	3	2	2	MSRB2	23449791	23449791	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.456000	0.21859	-0.537000	0.06290	-0.256000	0.11100	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.398282	1	0.170000	NM_012228			25	24		112	111	0		1	1		0	0	30	0		9.999999e-01	1	0	46	0	141	0	25	112
PTF1A	256297	broad.mit.edu	37	10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	7					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|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)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647																																						ENST00000376504.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				7						c.(19-21)gAg>gTg		pancreas specific transcription factor, 1a							50.0	48.0	49.0					10																	23481479		2203	4300	6503	SO:0001583	missense	256297	0	0					g.chr10:23481479A>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.20A>T	chr10.hg19:g.23481479A>T	ENSP00000365687:p.Glu7Val	0						p.E7V	NM_178161.2	NP_835455.1	1	2	3	2.000167	Q7RTS3	PTF1A_HUMAN		1	224	+			Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	1	1	hg19	c.20A>T	CCDS7143.1	1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887566	0.72410	.	.	ENSG00000168267	ENST00000376504	D	0.96073	-3.9	2.96	2.96	0.34315	2.96	2.96	0.34315	.	0.140467	0.46442	U	0.000299	D	0.93245	0.7848	L	0.27053	0.805	0.40935	D	0.984423	D	0.64830	0.994	P	0.53266	0.722	D	0.93282	0.6661	10	0.87932	D	0	-12.742	10.8941	0.47012	1.0:0.0:0.0:0.0	.	7	Q7RTS3	PTF1A_HUMAN	V	7	ENSP00000365687:E7V	ENSP00000365687:E7V	E	+	2	0	0	PTF1A	23521485	23521485	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	8.002000	0.88514	1.222000	0.43521	0.260000	0.18958	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_178161			51	51		308	306	0		1	0		0	0	55	0		1	2.108936e-02	0	0	0	2	0	51	308
KIAA1217	56243	broad.mit.edu	37	10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	32					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						AATCTGCATGTAACATCACCA	0.428																																						ENST00000376454.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				70						c.(94-96)gTa>gCa		KIAA1217							61.0	52.0	55.0					10																	24508579		2203	4300	6503	SO:0001583	missense	56243	0	0					g.chr10:24508579T>C	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.95T>C	chr10.hg19:g.24508579T>C	ENSP00000365637:p.Val32Ala	0					KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	p.V32A	NM_019590.3	NP_062536.2	1	2	3	2.000167	Q5T5P2	SKT_HUMAN		2	125	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	1	1	hg19	c.95T>C	CCDS31165.1	1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706174	0.30232	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	3.52	0.40303	5.87	3.52	0.40303	.	0.362629	0.20046	N	0.100403	T	0.43077	0.1231	L	0.34521	1.04	0.27381	N	0.955423	B;B;B;B	0.18310	0.003;0.001;0.027;0.003	B;B;B;B	0.16289	0.015;0.007;0.015;0.009	T	0.30765	-0.9967	10	0.05833	T	0.94	.	8.2229	0.31552	0.0:0.0671:0.3822:0.5507	.	32;32;32;32	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	A	32	ENSP00000365639:V32A;ENSP00000392625:V32A;ENSP00000365637:V32A;ENSP00000365635:V32A	ENSP00000365635:V32A	V	+	2	0	0	KIAA1217	24548585	24548585	0.998000	0.40836	0.329000	0.25429	0.565000	0.35776	2.851000	0.48302	0.476000	0.27440	0.533000	0.62120	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_019590			30	29		114	112	1		1	0		0	0	33	0		1	7.027572e-01	0	0	0	11	0	30	114
KIAA1217	56243	broad.mit.edu	37	10	24783453	24783453	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000376454.3	+	7	1734	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	568					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						CCATGGAGAAACAGATTGCCA	0.413																																						ENST00000376454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1702-1704)aaA>aaG		KIAA1217							106.0	100.0	102.0					10																	24783453		2203	4300	6503	SO:0001819	synonymous_variant	56243	2	121412	32				g.chr10:24783453A>G	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.1704A>G	chr10.hg19:g.24783453A>G		0					KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron	p.K568K	NM_019590.3	NP_062536.2	1	2	3	2.000167	Q5T5P2	SKT_HUMAN		7	1734	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	1	1	hg19	c.1704A>G	CCDS31165.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_019590			55	55		253	250	1		1	0		0	0	65	0		1	8.535357e-01	0	1	0	17	0	55	253
KIAA1217	56243	broad.mit.edu	37	10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000376454.3	+	13	2525	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	832					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						ACGGACGCAGCCCAAGCCGCA	0.567																																						ENST00000376454.3	1.000000	0.320000	6.900000e-01	4.200000e-01	0.530000	0.565089	0.530000	0.520000																										0				70						c.(2494-2496)gCc>gTc		KIAA1217							73.0	75.0	74.0					10																	24813290		2203	4300	6503	SO:0001583	missense	56243	0	0					g.chr10:24813290C>T	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.2495C>T	chr10.hg19:g.24813290C>T	ENSP00000365637:p.Ala832Val	0					KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V	p.A832V	NM_019590.3	NP_062536.2	1	2	3	2.000167	Q5T5P2	SKT_HUMAN		13	2525	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	1	1	hg19	c.2495C>T	CCDS31165.1	0	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598899	0.28445	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.937129	0.09094	N	0.849465	T	0.44477	0.1295	L	0.29908	0.895	0.25320	N	0.989121	B;B;B;B;P;B;P;B	0.43477	0.383;0.098;0.383;0.011;0.707;0.383;0.808;0.328	B;B;B;B;B;B;B;B	0.40864	0.124;0.021;0.124;0.028;0.318;0.248;0.342;0.178	T	0.23583	-1.0184	10	0.18276	T	0.48	.	14.4641	0.67472	0.1471:0.8529:0.0:0.0	.	797;797;515;515;515;515;832;832	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	752;797;797;515;832;797;647;515;515;515;515;515	ENSP00000365645:A752V;ENSP00000365639:A797V;ENSP00000392625:A797V;ENSP00000365637:A832V;ENSP00000365635:A797V;ENSP00000404798:A647V;ENSP00000302343:A515V;ENSP00000379722:A515V;ENSP00000365634:A515V;ENSP00000379723:A515V	ENSP00000302343:A515V	A	+	2	0	0	KIAA1217	24853296	24853296	0.042000	0.20092	0.987000	0.45799	0.222000	0.24845	2.307000	0.43682	2.643000	0.89663	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-4.620357	1	0.170000	NM_019590			19	18		413	404	0		1	0		0	0	94	0		9.999890e-01	9.294444e-01	0	0	0	100	0	19	413
KIAA1217	56243	broad.mit.edu	37	10	24820880	24820880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000376454.3	+	15	3234	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000396445.1_Silent_p.G751G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1068					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						CGAGGTCAGGCGATGTGGTCT	0.577																																						ENST00000376454.3	1.000000	0.710000	1	8.900000e-01	0.990000	0.962066	0.990000	1.000000																										0				70						c.(3202-3204)ggC>ggT		KIAA1217							66.0	53.0	58.0					10																	24820880		2203	4300	6503	SO:0001819	synonymous_variant	56243	0	0					g.chr10:24820880C>T	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.3204C>T	chr10.hg19:g.24820880C>T		0					KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000396445.1_Silent_p.G751G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376452.3_Silent_p.G1032G	p.G1068G	NM_019590.3	NP_062536.2	1	2	3	2.000167	Q5T5P2	SKT_HUMAN		15	3234	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	1	1	hg19	c.3204C>T	CCDS31165.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-3.221888	1	0.170000	NM_019590			21	20		205	203	0		1	1		0	0	57	0		9.999979e-01	9.995643e-01	0	2	0	122	0	21	205
KIAA1217	56243	broad.mit.edu	37	10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000376454.3	+	19	4264	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1412					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						AGAAGACATACAGACGGTTAA	0.473																																						ENST00000376454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4234-4236)Cag>Tag		KIAA1217							82.0	79.0	80.0					10																	24832433		2203	4300	6503	SO:0001587	stop_gained	56243	0	0					g.chr10:24832433C>T	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.4234C>T	chr10.hg19:g.24832433C>T	ENSP00000365637:p.Gln1412*	0					KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron	p.Q1412*	NM_019590.3	NP_062536.2	1	2	3	2.000167	Q5T5P2	SKT_HUMAN		19	4264	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	0	1	hg19	c.4234C>T	CCDS31165.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.491585	0.98834	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1412;1095;1095	.	ENSP00000365634:Q1095X	Q	+	1	0	0	KIAA1217	24872439	24872439	1.000000	0.71417	0.959000	0.39883	0.148000	0.21650	7.480000	0.81109	2.680000	0.91292	0.561000	0.74099	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_019590			54	53		260	254	1		1	1		0	0	53	0		1	9.998610e-01	0	3	0	63	0	54	260
ARHGAP21	57584	broad.mit.edu	37	10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			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						GTGAAAAACCAGTCATGCTAA	0.373																																						ENST00000396432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(4009-4011)Tgg>Ggg		Rho GTPase activating protein 21							77.0	81.0	80.0					10																	24880606		2203	4300	6503	SO:0001583	missense	57584	0	0					g.chr10:24880606A>C	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.4009T>G	chr10.hg19:g.24880606A>C	ENSP00000379709:p.Trp1337Gly	0					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	p.W1337G	NM_020824.3	NP_065875.3	1	2	3	2.000167	Q5T5U3	RHG21_HUMAN		23	4495	-			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	1	1	hg19	c.4009T>G	CCDS7144.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.833261|2.833261	0.50951|0.50951	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11169	.|2.8;2.8	5.43|5.43	4.3|4.3	0.51218|0.51218	5.43|5.43	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	.|0.123729	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.62326	.|D	.|0.03	.|.	11.3975|11.3975	0.49851|0.49851	0.9288:0.0:0.0711:0.0|0.9288:0.0:0.0711:0.0	.|.	.|1336	.|Q5T5U3	.|RHG21_HUMAN	R|G	150|1337;786;1124	.|ENSP00000379709:W1337G;ENSP00000365604:W1124G	.|ENSP00000365604:W1124G	L|W	-|-	2|1	0|0	0|0	ARHGAP21|ARHGAP21	24920612|24920612	24920612|24920612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.670000|8.670000	0.91168|0.91168	1.010000|1.010000	0.39314|0.39314	0.460000|0.460000	0.39030|0.39030	CTG|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_020824			72	72		362	355	1		1	1		0	0	74	0		1	9.999659e-01	0	6	0	71	0	72	362
ARHGAP21	57584	broad.mit.edu	37	10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1307	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			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						TCTGATGTTCGAACAAGGGTG	0.438																																						ENST00000396432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3922-3924)Cga>Tga		Rho GTPase activating protein 21							193.0	160.0	172.0					10																	24880896		2203	4300	6503	SO:0001587	stop_gained	57584	0	0					g.chr10:24880896G>A	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.3922C>T	chr10.hg19:g.24880896G>A	ENSP00000379709:p.Arg1308*	0					ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	p.R1308*	NM_020824.3	NP_065875.3	1	2	3	2.000167	Q5T5U3	RHG21_HUMAN		22	4408	-			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	0	1	hg19	c.3922C>T	CCDS7144.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.207246|9.207246	0.99099|0.99099	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	.|.	.|.	.|.	5.76|5.76	2.3|2.3	0.28687|0.28687	5.76|5.76	2.3|2.3	0.28687|0.28687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63200	.|0.2491	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68435	.|-0.5409	.|3	0.02654|.	T|.	1|.	.|.	14.3043|14.3043	0.66375|0.66375	0.0:0.0:0.4766:0.5234|0.0:0.0:0.4766:0.5234	.|.	.|.	.|.	.|.	X|L	1308;757;1095|121	.|.	ENSP00000365604:R1095X|.	R|S	-|-	1|2	2|0	2|0	ARHGAP21|ARHGAP21	24920902|24920902	24920902|24920902	0.960000|0.960000	0.32886|0.32886	0.035000|0.035000	0.18076|0.18076	0.907000|0.907000	0.53573|0.53573	1.010000|1.010000	0.29898|0.29898	0.246000|0.246000	0.21394|0.21394	0.655000|0.655000	0.94253|0.94253	CGA|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-3.239291	1	0.170000	NM_020824			101	98		490	478	1		1	1		0	0	105	0		1	9.999999e-01	0	8	0	103	0	101	490
ARHGAP21	57584	broad.mit.edu	37	10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1021	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458																																						ENST00000396432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3064-3066)Gct>Act		Rho GTPase activating protein 21							141.0	132.0	135.0					10																	24889643		2203	4300	6503	SO:0001583	missense	57584	0	0					g.chr10:24889643C>T	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.3064G>A	chr10.hg19:g.24889643C>T	ENSP00000379709:p.Ala1022Thr	0					ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	p.A1022T	NM_020824.3	NP_065875.3	1	2	3	2.000167	Q5T5U3	RHG21_HUMAN		14	3550	-			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	1	1	hg19	c.3064G>A	CCDS7144.2	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005133	0.93287	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	6.02	5.1	0.69264	6.02	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047686	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92537	0.6038	10	0.51188	T	0.08	.	16.5796	0.84711	0.1313:0.8687:0.0:0.0	.	1012;1021	F8W9U9;Q5T5U3	.;RHG21_HUMAN	T	1022;809;1012;1022;857	ENSP00000379709:A1022T;ENSP00000365604:A809T;ENSP00000365592:A1012T;ENSP00000405018:A1022T	ENSP00000365604:A809T	A	-	1	0	0	ARHGAP21	24929649	24929649	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.767000	0.85331	1.518000	0.48934	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1		2	2	2	0		0	0	85		85	101	1	2.060000	-20.000000	1	0.170000	NM_020824			112	108		466	457	1		1	1		0	0	85	0		1	9.999088e-01	0	10	0	48	0	112	466
ARHGAP21	57584	broad.mit.edu	37	10	24909750	24909750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	357					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428																																						ENST00000396432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1072-1074)atC>atT		Rho GTPase activating protein 21							58.0	60.0	60.0					10																	24909750		2203	4300	6503	SO:0001819	synonymous_variant	57584	0	0					g.chr10:24909750G>A	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.1074C>T	chr10.hg19:g.24909750G>A		0					ARHGAP21_ENST00000320481.6_Silent_p.I145I	p.I358I	NM_020824.3	NP_065875.3	1	2	3	2.000167	Q5T5U3	RHG21_HUMAN		9	1560	-			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	1	1	hg19	c.1074C>T	CCDS7144.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	0	1		2	2	2	0		0	0	48		48	50	1	2.060000	-20.000000	1	0.170000	NM_020824			58	55		254	244	1		1	0		0	0	48	0		1	9.055598e-01	0	1	0	18	0	58	254
ARHGAP21	57584	broad.mit.edu	37	10	24910055	24910055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	ENST00000396432.2	-	9	1255	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	256					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATTTTGCAACATCTGTTGGT	0.413																																						ENST00000396432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(769-771)Gtt>Att		Rho GTPase activating protein 21							66.0	58.0	61.0					10																	24910055		2202	4280	6482	SO:0001583	missense	57584	0	0					g.chr10:24910055C>T	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.769G>A	chr10.hg19:g.24910055C>T	ENSP00000379709:p.Val257Ile	0					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	p.V257I	NM_020824.3	NP_065875.3	1	2	3	2.000167	Q5T5U3	RHG21_HUMAN		9	1255	-			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	0	1	hg19	c.769G>A	CCDS7144.2	1	.	.	.	.	.	.	.	.	.	.	C	5.651	0.304756	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.42513	2.92;3.04;0.97;0.98	5.35	4.44	0.53790	5.35	4.44	0.53790	.	0.347323	0.30999	N	0.008448	T	0.21062	0.0507	N	0.11927	0.2	0.19300	N	0.999974	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.12734	-1.0536	10	0.14656	T	0.56	.	8.1419	0.31089	0.0:0.7801:0.0:0.2199	.	247;256	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	257;246;44;247;257;92	ENSP00000379709:V257I;ENSP00000365604:V44I;ENSP00000365592:V247I;ENSP00000405018:V257I	ENSP00000365604:V44I	V	-	1	0	0	ARHGAP21	24950061	24950061	0.274000	0.24191	0.997000	0.53966	0.918000	0.54935	0.494000	0.22467	2.686000	0.91538	0.650000	0.86243	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	0	0		2	2	2	0		0	0	50		50	72	1	2.060000	-20.000000	1	0.170000	NM_020824			58	47		249	207	0		1	1		0	0	50	0		1	9.910561e-01	0	4	0	30	0	58	249
ENKUR	219670	broad.mit.edu	37	10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A	rs200773323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	226	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388																																						ENST00000331161.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(676-678)Cgc>Tgc		enkurin, TRPC channel interacting protein							112.0	105.0	107.0					10																	25273753		2203	4300	6503	SO:0001583	missense	219670	1	121412	39				g.chr10:25273753G>A	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.676C>T	chr10.hg19:g.25273753G>A	ENSP00000331044:p.Arg226Cys	0					ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	p.R226C	NM_145010.3	NP_659447.1	1	2	3	2.000167	Q8TC29	ENKUR_HUMAN		5	895	-			A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	1	1	hg19	c.676C>T	CCDS7146.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094431	0.56075	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.363904	0.32473	N	0.006055	T	0.79879	0.4522	M	0.84082	2.675	0.43657	D	0.996073	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82528	-0.0412	9	0.87932	D	0	-25.1717	13.5449	0.61697	0.078:0.0:0.922:0.0	.	226;226	Q5VV23;Q8TC29	.;ENKUR_HUMAN	C	226	.	ENSP00000331044:R226C	R	-	1	0	0	ENKUR	25313759	25313759	0.995000	0.38212	0.908000	0.35775	0.524000	0.34500	2.989000	0.49393	2.602000	0.87976	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-2.555355	1	0.170000	NM_145010			55	54		255	250	1		1	0		0	0	51	0		1	3.268616e-02	0	1	0	1	0	55	255
GPR158	57512	broad.mit.edu	37	10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	806					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)			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						AAGGAGGAGACCCTGAAAAAC	0.542																																						ENST00000376351.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(2416-2418)aCc>aTc		G protein-coupled receptor 158							85.0	94.0	91.0					10																	25886972		2203	4300	6503	SO:0001583	missense	57512	0	0					g.chr10:25886972C>T	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.2417C>T	chr10.hg19:g.25886972C>T	ENSP00000365529:p.Thr806Ile	0					GPR158_ENST00000490549.1_3'UTR	p.T806I	NM_020752.2	NP_065803.2	1	2	3	2.000167	Q5T848	GP158_HUMAN		11	2776	+			Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	1	1	hg19	c.2417C>T	CCDS31166.1	1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881938	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.61742	0.08	5.78	4.87	0.63330	5.78	4.87	0.63330	.	0.403301	0.23426	N	0.048316	T	0.51839	0.1698	L	0.34521	1.04	0.19945	N	0.99994	B	0.19935	0.04	B	0.22880	0.042	T	0.42616	-0.9441	10	0.49607	T	0.09	.	19.1354	0.93426	0.1171:0.8828:0.0:0.0	.	806	Q5T848	GP158_HUMAN	I	806	ENSP00000365529:T806I	ENSP00000365529:T806I	T	+	2	0	0	GPR158	25926978	25926978	0.976000	0.34144	1.000000	0.80357	0.478000	0.33099	4.658000	0.61497	0.792000	0.33850	-0.824000	0.03097	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	XM_166110			109	108		488	484	1		1	0		0	0	146	0		1	0	0	0	0	1	0	109	488
GPR158	57512	broad.mit.edu	37	10	25887906	25887906	+	Silent	SNP	C	C	T	rs544868296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1117					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)			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						CTGGGCAGAGCGAAGAACTGC	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		18800	0.0		0.0	False		,,,				2504	0.001					ENST00000376351.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(3349-3351)agC>agT		G protein-coupled receptor 158							86.0	90.0	89.0					10																	25887906		2203	4300	6503	SO:0001819	synonymous_variant	57512	5	121410	37				g.chr10:25887906C>T	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.3351C>T	chr10.hg19:g.25887906C>T		0					GPR158_ENST00000490549.1_3'UTR	p.S1117S	NM_020752.2	NP_065803.2	1	2	3	2.000167	Q5T848	GP158_HUMAN		11	3710	+			Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	1	1	hg19	c.3351C>T	CCDS31166.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.224601	1	0.170000	XM_166110			62	61		348	341	1		1	0		0	0	75	0		1	2.369590e-02	0	0	0	2	0	62	348
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000543632.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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						TAGGAACACCGTTTTGGATGG	0.448																																						ENST00000265944.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(565-567)ccG>ccA		myosin IIIA							113.0	106.0	109.0					10																	26305807		2203	4300	6503	SO:0001819	synonymous_variant	53904	0	0					g.chr10:26305807G>A	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.567G>A	chr10.hg19:g.26305807G>A		0					MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P	p.P189P	NM_017433.4	NP_059129.3	1	2	3	2.000167	Q8NEV4	MYO3A_HUMAN		7	733	+			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	1	1	hg19	c.567G>A	CCDS7148.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_017433			56	56		291	286	1		1			0	0	84	0		1	0	0	0	0	0	0	56	291
MYO3A	53904	broad.mit.edu	37	10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	767	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)			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						TGCTAGAGTTATTGAATATGA	0.338																																						ENST00000265944.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(2299-2301)Att>Ttt		myosin IIIA							128.0	128.0	128.0					10																	26432413		2203	4300	6503	SO:0001583	missense	53904	0	0					g.chr10:26432413A>T	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.2299A>T	chr10.hg19:g.26432413A>T	ENSP00000265944:p.Ile767Phe	0					MYO3A_ENST00000543632.1_Intron	p.I767F	NM_017433.4	NP_059129.3	1	2	3	2.000167	Q8NEV4	MYO3A_HUMAN		21	2465	+			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	1	1	hg19	c.2299A>T	CCDS7148.1	1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929198	0.73327	.	.	ENSG00000095777	ENST00000265944	D	0.89552	-2.53	6.02	3.68	0.42216	6.02	3.68	0.42216	Myosin head, motor domain (3);	0.043720	0.85682	D	0.000000	D	0.95124	0.8420	M	0.93241	3.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94437	0.7655	10	0.87932	D	0	.	10.4349	0.44430	0.8684:0.0:0.1316:0.0	.	767	Q8NEV4	MYO3A_HUMAN	F	767	ENSP00000265944:I767F	ENSP00000265944:I767F	I	+	1	0	0	MYO3A	26472419	26472419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.755000	0.55197	0.512000	0.28257	0.528000	0.53228	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_017433			39	38		165	161	1		1			0	0	33	0		1	0	0	0	0	0	0	39	165
MYO3A	53904	broad.mit.edu	37	10	26443677	26443677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	906	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)			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						CTCCTTAGGGCGACACTGGAG	0.393																																						ENST00000265944.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				146						c.(2716-2718)ggC>ggT		myosin IIIA							99.0	97.0	98.0					10																	26443677		2203	4300	6503	SO:0001819	synonymous_variant	53904	0	0					g.chr10:26443677C>T	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.2718C>T	chr10.hg19:g.26443677C>T		0					MYO3A_ENST00000543632.1_Intron	p.G906G	NM_017433.4	NP_059129.3	1	2	3	2.000167	Q8NEV4	MYO3A_HUMAN		25	2884	+			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	1	1	hg19	c.2718C>T	CCDS7148.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.635390	1	0.170000	NM_017433			28	28		100	97	1		1	0		0	0	36	0		1	4.001252e-01	0	1	0	5	0	28	100
MYO3A	53904	broad.mit.edu	37	10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1240					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)			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						ATCCAGAGTTACTATCAGAGG	0.463																																						ENST00000265944.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(3718-3720)tAc>tGc		myosin IIIA							104.0	106.0	105.0					10																	26462912		2203	4300	6503	SO:0001583	missense	53904	0	0					g.chr10:26462912A>G	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.3719A>G	chr10.hg19:g.26462912A>G	ENSP00000265944:p.Tyr1240Cys	0					MYO3A_ENST00000543632.1_Intron	p.Y1240C	NM_017433.4	NP_059129.3	1	2	3	2.000167	Q8NEV4	MYO3A_HUMAN		30	3885	+			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	1	1	hg19	c.3719A>G	CCDS7148.1	1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439646	0.12104	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	4.89	-0.76	0.11041	4.89	-0.76	0.11041	.	1.242500	0.05268	N	0.516955	T	0.65133	0.2662	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.62326	D	0.03	.	6.3292	0.21260	0.4619:0.0:0.0679:0.4702	.	1240	Q8NEV4	MYO3A_HUMAN	C	1240	ENSP00000265944:Y1240C	ENSP00000265944:Y1240C	Y	+	2	0	0	MYO3A	26502918	26502918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.522000	0.22909	-0.321000	0.08627	-0.336000	0.08194	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_017433			77	76		322	313	1		1	0		0	0	72	0		1	0	0	0	0	1	0	77	322
MYO3A	53904	broad.mit.edu	37	10	26490219	26490219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	ENST00000265944.5	+	33	4737	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1524					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)			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						GAAAAACGAAGACCAAGGAAA	0.249																																						ENST00000265944.5	1.000000	0.350000	1	5.800000e-01	0.910000	0.829212	0.910000	1.000000																										0				146						c.(4570-4572)aGa>aAa		myosin IIIA							24.0	24.0	24.0					10																	26490219		2201	4297	6498	SO:0001583	missense	53904	0	0					g.chr10:26490219G>A	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.4571G>A	chr10.hg19:g.26490219G>A	ENSP00000265944:p.Arg1524Lys	0					MYO3A_ENST00000543632.1_Intron	p.R1524K	NM_017433.4	NP_059129.3	1	2	3	2.000167	Q8NEV4	MYO3A_HUMAN		33	4737	+			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	0	1	hg19	c.4571G>A	CCDS7148.1	1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022481	0.08006	.	.	ENSG00000095777	ENST00000265944	T	0.71341	-0.56	5.71	3.68	0.42216	5.71	3.68	0.42216	.	0.205122	0.52532	D	0.000074	T	0.44644	0.1303	N	0.11845	0.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	8.5118	0.33222	0.1928:0.0:0.8072:0.0	.	1524	Q8NEV4	MYO3A_HUMAN	K	1524	ENSP00000265944:R1524K	ENSP00000265944:R1524K	R	+	2	0	0	MYO3A	26530225	26530225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.107000	0.41844	0.644000	0.30656	0.557000	0.71058	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-9.805761	1	0.170000	NM_017433			5	4		64	63	0		1			0	0	17	0		9.350887e-01	0	0	0	0	0	0	5	64
GAD2	2572	broad.mit.edu	37	10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	334					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)			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						CTCGTGAGTGCCACAGCTGGA	0.458																																						ENST00000376261.3	1.000000	0.370000	6.400000e-01	4.400000e-01	0.530000	0.560138	0.530000	0.520000																										0				48						c.(1000-1002)gCc>gTc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)							171.0	164.0	166.0					10																	26559594		2203	4300	6503	SO:0001583	missense	2572	0	0					g.chr10:26559594C>T	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.1001C>T	chr10.hg19:g.26559594C>T	ENSP00000365437:p.Ala334Val	0					GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	p.A334V	NM_001134366.1	NP_001127838.1	1	2	3	2.000167	Q05329	DCE2_HUMAN		10	1504	+			Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	1	1	hg19	c.1001C>T	CCDS7149.1	0	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884271	0.91814	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.54866	0.55;0.55	5.61	5.61	0.85477	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097447	0.64402	D	0.000001	T	0.78672	0.4320	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.83351	-0.0003	10	0.87932	D	0	-17.2435	19.2442	0.93895	0.0:1.0:0.0:0.0	.	334	Q05329	DCE2_HUMAN	V	334	ENSP00000365437:A334V;ENSP00000259271:A334V	ENSP00000259271:A334V	A	+	2	0	0	GAD2	26599600	26599600	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.601000	0.67606	2.660000	0.90430	0.643000	0.83706	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-4.545991	1	0.170000	NM_000818			36	35		777	760	0		1	0		0	0	131	0		1	1.910695e-02	0	0	0	5	0	36	777
GAD2	2572	broad.mit.edu	37	10	26569946	26569946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	ENST00000376261.3	+	12	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	389					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)			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						AGGGCCAACTCTGTGACGTGG	0.498																																						ENST00000376261.3	1.000000	0.280000	5.500000e-01	3.500000e-01	0.430000	0.470399	0.430000	0.430000																										0				48						c.(1165-1167)tCt>tAt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)							181.0	169.0	173.0					10																	26569946		2203	4300	6503	SO:0001583	missense	2572	0	0					g.chr10:26569946C>A	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.1166C>A	chr10.hg19:g.26569946C>A	ENSP00000365437:p.Ser389Tyr	0					GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	p.S389Y	NM_001134366.1	NP_001127838.1	1	2	3	2.000167	Q05329	DCE2_HUMAN		12	1669	+			Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	1	1	hg19	c.1166C>A	CCDS7149.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106318	0.77096	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.66638	-0.22;-0.22	4.77	3.85	0.44370	4.77	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059798	0.64402	D	0.000001	D	0.88926	0.6570	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93226	0.6613	10	0.87932	D	0	-9.0047	15.1527	0.72713	0.0:0.8578:0.1422:0.0	.	389	Q05329	DCE2_HUMAN	Y	389	ENSP00000365437:S389Y;ENSP00000259271:S389Y	ENSP00000259271:S389Y	S	+	2	0	0	GAD2	26609952	26609952	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.734000	0.68580	1.097000	0.41459	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	0	1		2	2	2	0		0	0	104		104	99	1	2.060000	-2.851383	1	0.170000	NM_000818			24	24		643	631	0		1	0		0	0	104	0		9.999996e-01	1.337050e-02	0	0	0	5	0	24	643
ABI1	10006	broad.mit.edu	37	10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000376142.2	-	1	78	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	3					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)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562																																						ENST00000376142.2	1.000000	0.230000	5.500000e-01	3.000000e-01	0.400000	0.447594	0.400000	0.390000																										0				22						c.(7-9)Gag>Aag		abl-interactor 1							159.0	119.0	133.0					10																	27149786		2203	4300	6503	SO:0001583	missense	10006	0	0					g.chr10:27149786C>T	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.7G>A	chr10.hg19:g.27149786C>T	ENSP00000365312:p.Glu3Lys	0					ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K	p.E3K	NM_005470.3	NP_005461.2	1	2	3	2.000167	Q8IZP0	ABI1_HUMAN		1	78	-			A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	1	1	hg19	c.7G>A	CCDS7150.1	0	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416588	0.83449	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23891	0.031;0.001;0.093;0.008;0.009;0.008;0.029;0.01;0.01;0.017;0.017;0.022	B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.007;0.007;0.035;0.012;0.013;0.003;0.044;0.006;0.016;0.024;0.024;0.011	D	0.91037	0.4868	10	0.72032	D	0.01	-8.868	17.3129	0.87214	0.0:1.0:0.0:0.0	.	3;3;3;3;3;28;3;3;3;3;3;3	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	3	ENSP00000365308:E3K;ENSP00000365340:E3K;ENSP00000365336:E3K;ENSP00000365330:E3K;ENSP00000365312:E3K;ENSP00000352114:E3K;ENSP00000365309:E3K;ENSP00000347555:E3K;ENSP00000279599:E3K;ENSP00000365304:E3K;ENSP00000365307:E3K;ENSP00000439646:E3K;ENSP00000440101:E3K;ENSP00000365310:E3K	ENSP00000279599:E3K	E	-	1	0	0	ABI1	27189792	27189792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.100000	0.76989	2.496000	0.84212	0.563000	0.77884	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-13.366470	1	0.170000	NM_005470			14	14		407	398	0		1	1		0	0	74	0		9.997248e-01	9.833756e-01	0	7	0	192	0	14	407
ANKRD26	22852	broad.mit.edu	37	10	27313378	27313378	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	ENST00000376087.4	-	28	4248	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_ENST00000436985.2_Silent_p.T1377T|ANKRD26_ENST00000376070.3_Silent_p.T918T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1360					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)				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						AATCTTACCCAGTTATCTCTC	0.224																																						ENST00000376087.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				70						c.(4081-4083)acT>acG		ankyrin repeat domain 26							61.0	60.0	61.0					10																	27313378		1777	4040	5817	SO:0001819	synonymous_variant	22852	0	0					g.chr10:27313378A>C	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.4083T>G	chr10.hg19:g.27313378A>C		0					ANKRD26_ENST00000436985.2_Silent_p.T1377T|ANKRD26_ENST00000376070.3_Silent_p.T918T	p.T1361T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	1	2	3	2.000167	Q9UPS8	ANR26_HUMAN		28	4248	-			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	0	1	hg19	c.4083T>G	CCDS41499.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.224	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	0	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				27	27		148	144	0		1	1		0	0	51	0		1	6.636908e-01	0	2	0	12	0	27	148
ANKRD26	22852	broad.mit.edu	37	10	27313399	27313399	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000436985.2_Silent_p.V1370V|ANKRD26_ENST00000376070.3_Silent_p.V911V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1353					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)				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						TTTCTAATTCAACATTTTTCT	0.249																																						ENST00000376087.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				70						c.(4060-4062)gtT>gtC		ankyrin repeat domain 26							69.0	69.0	69.0					10																	27313399		1777	4046	5823	SO:0001819	synonymous_variant	22852	0	0					g.chr10:27313399A>G	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.4062T>C	chr10.hg19:g.27313399A>G		0					ANKRD26_ENST00000436985.2_Silent_p.V1370V|ANKRD26_ENST00000376070.3_Silent_p.V911V	p.V1354V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	1	2	3	2.000167	Q9UPS8	ANR26_HUMAN		28	4227	-			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	1	1	hg19	c.4062T>C	CCDS41499.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				31	31		163	159	1		1	1		0	0	61	0		1	8.481825e-01	0	5	0	15	0	31	163
ANKRD26	22852	broad.mit.edu	37	10	27382725	27382725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82					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)				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						AATGTAGAGCCGTCCTATGAG	0.398																																						ENST00000376087.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(244-246)acG>acA		ankyrin repeat domain 26							85.0	80.0	81.0					10																	27382725		1978	4216	6194	SO:0001819	synonymous_variant	22852	6	120996	37				g.chr10:27382725C>T	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.246G>A	chr10.hg19:g.27382725C>T		0					ANKRD26_ENST00000436985.2_Silent_p.T82T	p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	1	2	3	2.000167	Q9UPS8	ANR26_HUMAN		2	411	-			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	1	1	hg19	c.246G>A	CCDS41499.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-2.705663	1	0.170000				50	50		209	205	0		1	1		0	0	40	0		1	3.878214e-02	0	2	0	0	0	50	209
YME1L1	10730	broad.mit.edu	37	10	27436510	27436510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27436510C>T	ENST00000326799.3	-	3	404	c.256G>A	c.(256-258)Gag>Aag	p.E86K	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	86					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)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						tttgctggctccatgaacatg	0.453																																						ENST00000326799.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.994705	0.990000	1.000000																										0				23						c.(256-258)Gag>Aag		YME1-like 1 ATPase							206.0	156.0	173.0					10																	27436510		2203	4300	6503	SO:0001583	missense	10730	0	0					g.chr10:27436510C>T	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.256G>A	chr10.hg19:g.27436510C>T	ENSP00000318480:p.Glu86Lys	0					YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000376016.3_Intron	p.E86K	NM_139312.2	NP_647473.1	1	2	3	2.000167	Q96TA2	YMEL1_HUMAN		3	404	-			B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	0	1	hg19	c.256G>A	CCDS7152.1	1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953921	0.02285	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	D	0.92348	-3.02	2.06	0.00919	0.14078	2.06	0.00919	0.14078	Peptidase M41, FtsH (1);	1.972690	0.03706	U	0.249369	T	0.82195	0.4984	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.0	T	0.70970	-0.4727	10	0.59425	D	0.04	.	3.2512	0.06815	0.0:0.5467:0.2784:0.1749	.	86;86	Q6PJ89;Q96TA2	.;YMEL1_HUMAN	K	86	ENSP00000318480:E86K	ENSP00000318480:E86K	E	-	1	0	0	YME1L1	27476516	27476516	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	-0.120000	0.10660	0.002000	0.14630	0.467000	0.42956	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-8.448425	1	0.170000	NM_139312			9	8		46	41	0		1	1		0	0	8	0		9.923994e-01	7.880504e-01	0	6	0	11	0	9	46
MASTL	84930	broad.mit.edu	37	10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375940.4	+	8	1270	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000375946.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	405	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)			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						AGTAGAACTGGATGTAAATAA	0.438																																						ENST00000375940.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1213-1215)Gat>Aat		microtubule associated serine/threonine kinase-like							80.0	84.0	83.0					10																	27459101		2203	4300	6503	SO:0001583	missense	84930	1	121412	29				g.chr10:27459101G>A	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.1213G>A	chr10.hg19:g.27459101G>A	ENSP00000365107:p.Asp405Asn	0					MASTL_ENST00000375946.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N	p.D405N			1	2	3	2.000167	Q96GX5	GWL_HUMAN		8	1270	+			Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	1	1	hg19	c.1213G>A	CCDS53502.1	1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379084	0.24944	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	3.91	0.45181	5.92	3.91	0.45181	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.694533	0.14607	N	0.309297	T	0.75110	0.3805	M	0.67953	2.075	0.09310	N	1	P;P;P	0.41848	0.646;0.514;0.763	B;B;B	0.41723	0.365;0.216;0.229	T	0.64542	-0.6383	10	0.30854	T	0.27	-13.2781	10.2052	0.43109	0.0:0.1064:0.6707:0.2228	.	405;405;405	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	405	ENSP00000365113:D405N;ENSP00000343446:D405N;ENSP00000365107:D405N	ENSP00000343446:D405N	D	+	1	0	0	MASTL	27499107	27499107	0.000000	0.05858	0.829000	0.32907	0.393000	0.30537	0.040000	0.13905	1.484000	0.48361	0.650000	0.86243	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_032844			92	91		430	425	1		1	1		0	0	92	0		1	9.793827e-01	0	12	0	19	0	92	430
ACBD5	91452	broad.mit.edu	37	10	27497259	27497259	+	Silent	SNP	G	G	A	rs181926234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000375888.1	-	10	1411	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000396271.3_Silent_p.I440I|ACBD5_ENST00000375905.4_Silent_p.I405I|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	449					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13635	0.0		0.0	False		,,,				2504	0.0					ENST00000375888.1	1.000000	0.780000	1	8.900000e-01	0.990000	0.960820	0.990000	1.000000																										0				13						c.(1345-1347)atC>atT		acyl-CoA binding domain containing 5							122.0	111.0	115.0					10																	27497259		2203	4300	6503	SO:0001819	synonymous_variant	91452	6	121412	43				g.chr10:27497259G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1347C>T	chr10.hg19:g.27497259G>A		0					ACBD5_ENST00000396271.3_Silent_p.I440I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.I405I	p.I449I			1	2	3	2.000167	Q5T8D3	ACBD5_HUMAN		10	1411	-			B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	1	1	hg19	c.1347C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-15.268570	1	0.170000	NM_145698			62	60		666	659	0		1	1		0	0	138	0		1	9.999950e-01	0	36	0	150	0	62	666
PTCHD3	374308	broad.mit.edu	37	10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	405	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438																																						ENST00000438700.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				55						c.(1213-1215)tTt>tGt		patched domain containing 3							95.0	89.0	91.0					10																	27692284		2203	4300	6503	SO:0001583	missense	374308	0	0					g.chr10:27692284A>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1214T>G	chr10.hg19:g.27692284A>C	ENSP00000417658:p.Phe405Cys	0						p.F405C	NM_001034842.3	NP_001030014.2	1	2	3	2.000167	Q3KNS1	PTHD3_HUMAN		3	1331	-			I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	1	1	hg19	c.1214T>G	CCDS31173.1	1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074373	0.01903	.	.	ENSG00000182077	ENST00000438700	D	0.91996	-2.95	4.09	-2.89	0.05665	4.09	-2.89	0.05665	Sterol-sensing domain (1);	1.570750	0.03132	N	0.165365	T	0.78886	0.4354	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69289	-0.5184	10	0.27785	T	0.31	1.3274	5.6094	0.17396	0.2793:0.5362:0.0762:0.1084	.	405	Q3KNS1	PTHD3_HUMAN	C	405	ENSP00000417658:F405C	ENSP00000417658:F405C	F	-	2	0	0	PTCHD3	27732290	27732290	0.198000	0.23374	0.003000	0.11579	0.003000	0.03518	0.623000	0.24447	-0.412000	0.07519	0.459000	0.35465	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	XM_370541			59	59		345	333	1		1	0		0	0	69	0		1	0	0	0	0	1	0	59	345
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T	rs369236488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16742	0.001		0.0	False		,,,				2504	0.0					ENST00000375790.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1039-1041)ccG>ccA		mohawk homeobox		C	,	3,4403	6.2+/-15.9	0,3,2200	172.0	151.0	158.0		1041,1041	-11.2	0.0	10		158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	347/353,347/353	27964176	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283078	9	121412	43				g.chr10:27964176C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1041G>A	chr10.hg19:g.27964176C>T		0					MKX_ENST00000419761.1_Silent_p.P347P	p.P347P			1	2	3	2.000167	Q8IYA7	MKX_HUMAN		7	1473	-			B3KWM5	Silent	SNP	ENST00000375790.5	1	1	hg19	c.1041G>A	CCDS7156.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	1	0	1		2	2	2	0		0	0	98		98	95	1	2.060000	-20.000000	1	0.170000	NM_173576			86	86		459	452	1		1	0		0	0	98	0		1	1.823134e-01	0	1	0	4	0	86	459
ARMC4	55130	broad.mit.edu	37	10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*|ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	771					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)				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						ACAAGTACTTCTTCAGGCTGA	0.433																																						ENST00000305242.5	1.000000	0.300000	6.600000e-01	3.900000e-01	0.510000	0.541848	0.510000	0.500000																										0				75						c.(2311-2313)Gaa>Taa		armadillo repeat containing 4							141.0	136.0	138.0					10																	28224123		2203	4300	6503	SO:0001587	stop_gained	55130	0	0					g.chr10:28224123C>A	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.2311G>T	chr10.hg19:g.28224123C>A	ENSP00000306410:p.Glu771*	0					ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	p.E771*	NM_018076.2	NP_060546.2	1	2	3	2.000167	Q5T2S8	ARMC4_HUMAN		16	2403	-			A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	ENST00000305242.5	0	1	hg19	c.2311G>T	CCDS7157.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.429866	0.99169	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.087917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-38.5196	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	463;771;296	.	ENSP00000306410:E771X	E	-	1	0	0	ARMC4	28264129	28264129	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.809000	0.96659	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-4.159592	1	0.170000	NM_018076			18	18		412	409	0		1	0		0	0	78	0		9.999818e-01	0	0	0	0	1	0	18	412
MPP7	143098	broad.mit.edu	37	10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000375732.1	-	16	1736	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C|MPP7_ENST00000540098.1_Missense_Mutation_p.R493C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	493	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)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373																																						ENST00000375732.1	1.000000	0.740000	1	8.500000e-01	0.970000	0.940673	0.970000	1.000000																										0				22						c.(1477-1479)Cgt>Tgt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							171.0	169.0	170.0					10																	28345483		2203	4300	6503	SO:0001583	missense	143098	0	0					g.chr10:28345483G>A	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.1477C>T	chr10.hg19:g.28345483G>A	ENSP00000364884:p.Arg493Cys	0					MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C	p.R493C			1	2	3	2.000167	Q5T2T1	MPP7_HUMAN		16	1736	-			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	1	1	hg19	c.1477C>T	CCDS7158.1	1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873324	0.72180	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.72	5.72	0.89469	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.39467	1.215	0.80722	D	1	B	0.33964	0.434	B	0.31614	0.133	T	0.19128	-1.0315	10	0.48119	T	0.1	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	493	Q5T2T1	MPP7_HUMAN	C	493;493;493;493;254	ENSP00000364884:R493C;ENSP00000337907:R493C;ENSP00000438693:R493C;ENSP00000364871:R493C;ENSP00000398319:R254C	ENSP00000337907:R493C	R	-	1	0	0	MPP7	28385489	28385489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.986000	0.63851	2.709000	0.92574	0.591000	0.81541	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-13.518070	1	0.170000	NM_173496			55	52		617	598	0		1	0		0	0	123	0		1	3.550186e-01	0	0	0	15	0	55	617
WAC	51322	broad.mit.edu	37	10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000354911.4	+	5	613	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000375664.4_Missense_Mutation_p.R106Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	151	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318																																						ENST00000354911.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(451-453)cGa>cAa		WW domain containing adaptor with coiled-coil							84.0	92.0	89.0					10																	28878735		2203	4300	6503	SO:0001583	missense	51322	2	121408	37				g.chr10:28878735G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.452G>A	chr10.hg19:g.28878735G>A	ENSP00000346986:p.Arg151Gln	0					WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375664.4_Missense_Mutation_p.R106Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q	p.R151Q	NM_016628.4	NP_057712.2	1	2	3	2.000167	Q9BTA9	WAC_HUMAN		5	613	+			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	1	1	hg19	c.452G>A	CCDS7159.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.167989	0.94768	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.24	4.33	0.51752	5.24	4.33	0.51752	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.17312	0.475	0.80722	D	1	B;P;P	0.42584	0.274;0.784;0.515	B;B;B	0.40444	0.036;0.329;0.06	T	0.75513	-0.3291	10	0.45353	T	0.12	-5.4856	16.1738	0.81836	0.0:0.1336:0.8664:0.0	.	106;151;151	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	106;106;151;151;106;106;106;106;106;106	ENSP00000364816:R106Q;ENSP00000364797:R106Q;ENSP00000311106:R151Q;ENSP00000346986:R151Q;ENSP00000399706:R106Q;ENSP00000404758:R106Q;ENSP00000400848:R106Q;ENSP00000415645:R106Q	ENSP00000311106:R151Q	R	+	2	0	0	WAC	28918741	28918741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.567000	0.98161	1.315000	0.45114	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	0		2	2	2	0		0	0	105		105	103	1	2.060000	-3.417871	1	0.170000	NM_100264			74	72		331	321	1		1	1		0	0	105	0		1	1	0	71	0	287	0	74	331
WAC	51322	broad.mit.edu	37	10	28878779	28878779	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000354911.4	+	5	657	c.496A>C	c.(496-498)Aga>Cga	p.R166R	WAC_ENST00000428935.1_Splice_Site_p.R121R|WAC_ENST00000347934.4_Splice_Site_p.R166R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000375664.4_Splice_Site_p.R121R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	166					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323																																						ENST00000354911.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(496-498)Aga>Cga		WW domain containing adaptor with coiled-coil							60.0	65.0	63.0					10																	28878779		2203	4299	6502	SO:0001630	splice_region_variant	51322	0	0					g.chr10:28878779A>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.497+1A>C	chr10.hg19:g.28878779A>C		0					WAC_ENST00000347934.4_Splice_Site_p.R166R|WAC_ENST00000375664.4_Splice_Site_p.R121R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000428935.1_Splice_Site_p.R121R	p.R166R	NM_016628.4	NP_057712.2	1	2	3	2.000167	Q9BTA9	WAC_HUMAN		5	657	+			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	1	0	hg19	c.496A>C	CCDS7159.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	0		2	2	2	0		0	0	76		76	74	1	2.060000	-2.312283	0	0.170000	NM_100264	Silent		54	53		227	215	1		1	1		0	0	76	0		1	1	0	49	0	335	0	54	227
WAC	51322	broad.mit.edu	37	10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000354911.4	+	8	1173	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000375664.4_Missense_Mutation_p.T293A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	338					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478																																						ENST00000354911.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.997056	0.990000	1.000000																										0				32						c.(1012-1014)Aca>Gca		WW domain containing adaptor with coiled-coil							136.0	121.0	126.0					10																	28897207		2203	4300	6503	SO:0001583	missense	51322	4	121412	38				g.chr10:28897207A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1012A>G	chr10.hg19:g.28897207A>G	ENSP00000346986:p.Thr338Ala	0					WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375664.4_Missense_Mutation_p.T293A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A	p.T338A	NM_016628.4	NP_057712.2	1	2	3	2.000167	Q9BTA9	WAC_HUMAN		8	1173	+			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	1	1	hg19	c.1012A>G	CCDS7159.1	1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829402	0.32329	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.33654	1.94;1.97;2.01;1.94;1.4	5.38	1.27	0.21489	5.38	1.27	0.21489	.	0.539484	0.22346	N	0.061262	T	0.11537	0.0281	N	0.03608	-0.345	0.36342	D	0.859534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15723	-1.0427	10	0.09338	T	0.73	-5.1968	3.9112	0.09204	0.5186:0.0:0.1898:0.2916	.	293;235;338	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	293;190;235;338;293;293;293	ENSP00000364816:T293A;ENSP00000364797:T190A;ENSP00000311106:T235A;ENSP00000346986:T338A;ENSP00000399706:T293A	ENSP00000311106:T235A	T	+	1	0	0	WAC	28937213	28937213	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.518000	0.53451	0.369000	0.24510	0.482000	0.46254	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-17.393240	1	0.170000	NM_100264			50	48		423	411	1		1	1		0	0	76	0		1	1	0	54	0	457	0	50	423
BAMBI	25805	broad.mit.edu	37	10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	110					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.H110Y(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532																																						ENST00000375533.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.H110Y(1)	central_nervous_system(1)	17						c.(328-330)Cac>Tac		BMP and activin membrane-bound inhibitor							103.0	111.0	108.0					10																	28970438		2203	4300	6503	SO:0001583	missense	25805	0	0					g.chr10:28970438C>T	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.328C>T	chr10.hg19:g.28970438C>T	ENSP00000364683:p.His110Tyr	0						p.H110Y	NM_012342.2	NP_036474.1	1	2	3	2.000167	Q13145	BAMBI_HUMAN		2	884	+				Missense_Mutation	SNP	ENST00000375533.3	1	1	hg19	c.328C>T	CCDS7162.1	1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104114	0.37145	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90069	-2.61	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.224686	0.53938	D	0.000058	D	0.84469	0.5479	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.78671	-0.2113	10	0.28530	T	0.3	-21.1251	13.9437	0.64071	0.0:0.9276:0.0:0.0724	.	110;110	Q13145;Q53G66	BAMBI_HUMAN;.	Y	110;97	ENSP00000364683:H110Y	ENSP00000364683:H110Y	H	+	1	0	0	BAMBI	29010444	29010444	1.000000	0.71417	0.952000	0.39060	0.723000	0.41478	6.037000	0.70956	2.668000	0.90789	0.655000	0.94253	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.319279	1	0.170000	NM_012342			66	66		392	378	1		1	1		0	0	113	0		1	9.987414e-01	0	21	0	40	0	66	392
BAMBI	25805	broad.mit.edu	37	10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T	rs369894183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	151					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)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483																																						ENST00000375533.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(451-453)Cgg>Tgg		BMP and activin membrane-bound inhibitor		C	TRP/ARG	0,4406		0,0,2203	120.0	108.0	112.0		451	3.8	1.0	10		112	3,8597	3.0+/-9.4	0,3,4297	no	missense	BAMBI	NM_012342.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	151/261	28970998	3,13003	2203	4300	6503	SO:0001583	missense	25805	16	121412	47				g.chr10:28970998C>T	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.451C>T	chr10.hg19:g.28970998C>T	ENSP00000364683:p.Arg151Trp	0						p.R151W	NM_012342.2	NP_036474.1	1	2	3	2.000167	Q13145	BAMBI_HUMAN		3	1007	+				Missense_Mutation	SNP	ENST00000375533.3	1	1	hg19	c.451C>T	CCDS7162.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494650	0.64186	0.0	3.49E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	3.83	0.44106	5.86	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75921	-0.3147	9	0.87932	D	0	-3.3249	13.3044	0.60345	0.3251:0.6749:0.0:0.0	.	151	Q13145	BAMBI_HUMAN	W	151;138	.	ENSP00000364683:R151W	R	+	1	2	2	BAMBI	29011004	29011004	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.298000	0.51818	2.778000	0.95560	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.751850	1	0.170000	NM_012342			67	65		290	284	1		1	1		0	0	59	0		1	9.999925e-01	0	29	0	48	0	67	290
SVIL	6840	broad.mit.edu	37	10	29754582	29754582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000355867.4	-	34	6827	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P|SVIL_ENST00000535393.1_Silent_p.P939P|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2025					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)			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)				TGACCACAGAGGGGGCTCGGG	0.587																																						ENST00000355867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(6073-6075)ccC>ccA		supervillin							42.0	46.0	45.0					10																	29754582		2203	4299	6502	SO:0001819	synonymous_variant	6840	0	0					g.chr10:29754582G>T	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.6075C>A	chr10.hg19:g.29754582G>T		0					SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.P2025P	NM_021738.2	NP_068506.2	1	2	3	2.000167	O95425	SVIL_HUMAN		34	6827	-		Breast(68;0.103)	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	1	1	hg19	c.6075C>A	CCDS7164.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-2.840079	1	0.170000				45	45		229	222	1		1	1		0	0	60	0		1	9.999985e-01	0	13	0	93	0	45	229
SVIL	6840	broad.mit.edu	37	10	29762878	29762878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000355867.4	-	30	6170	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000375398.2_Silent_p.A1806A|SVIL_ENST00000535393.1_Silent_p.A720A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1806					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)			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)				TCTCTTTGCCGGCTGCCCTCA	0.597																																						ENST00000355867.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				112						c.(5416-5418)gcC>gcT		supervillin							67.0	49.0	55.0					10																	29762878		2203	4300	6503	SO:0001819	synonymous_variant	6840	1	121412	30				g.chr10:29762878G>A	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.5418C>T	chr10.hg19:g.29762878G>A		0					SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.A1806A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.A1806A	NM_021738.2	NP_068506.2	1	2	3	2.000167	O95425	SVIL_HUMAN		30	6170	-		Breast(68;0.103)	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	1	1	hg19	c.5418C>T	CCDS7164.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000				26	25		141	137	1		1	1		0	0	30	0		9.999999e-01	9.993461e-01	0	11	0	55	0	26	141
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000355867.4	-	29	5999	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.I541I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000375398.2_Silent_p.I1749I|SVIL_ENST00000535393.1_Silent_p.I663I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1749					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)			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)				AAACGCTGGTGATCTCAAACT	0.582																																						ENST00000355867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(5245-5247)atC>atT		supervillin							136.0	117.0	124.0					10																	29769596		2203	4300	6503	SO:0001819	synonymous_variant	6840	0	0					g.chr10:29769596G>A	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.5247C>T	chr10.hg19:g.29769596G>A		0					SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.I1749I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.I1749I	NM_021738.2	NP_068506.2	1	2	3	2.000167	O95425	SVIL_HUMAN		29	5999	-		Breast(68;0.103)	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	1	1	hg19	c.5247C>T	CCDS7164.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.386064	1	0.170000				98	97		443	432	1		1	1		0	0	98	0		1	1	0	21	0	126	0	98	443
SVIL	6840	broad.mit.edu	37	10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000355867.4	-	22	4818	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1356					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)			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)				TGAACCCGGCGCTTGGGCCTA	0.572																																						ENST00000355867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(4066-4068)Cgc>Tgc		supervillin							40.0	41.0	41.0					10																	29779902		2203	4300	6503	SO:0001583	missense	6840	0	0					g.chr10:29779902G>A	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.4066C>T	chr10.hg19:g.29779902G>A	ENSP00000348128:p.Arg1356Cys	0					SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C	p.R1356C	NM_021738.2	NP_068506.2	1	2	3	2.000167	O95425	SVIL_HUMAN		22	4818	-		Breast(68;0.103)	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	1	1	hg19	c.4066C>T	CCDS7164.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559153	0.65538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.37411	2.14;2.05;2.05;2.11;1.2	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.76574	2.34	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	1.0;0.999;1.0;0.999	T	0.67898	-0.5551	10	0.87932	D	0	-17.2551	16.543	0.84407	0.0:0.0:1.0:0.0	.	270;148;930;1356	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	930;1356;1356;270;310;148	ENSP00000364549:R930C;ENSP00000364547:R1356C;ENSP00000348128:R1356C;ENSP00000445472:R270C;ENSP00000440343:R148C	ENSP00000348128:R1356C	R	-	1	0	0	SVIL	29819908	29819908	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.267000	0.72546	2.110000	0.64415	0.485000	0.47835	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1		2	2	2	0		0	0	49		49	53	1	2.060000	-20.000000	1	0.170000				44	43		210	210	1		1	1		0	0	49	0		1	9.999997e-01	0	18	0	96	0	44	210
KIAA1462	57608	broad.mit.edu	37	10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1279					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						CTGGGAGTCGGCATTCCTGAA	0.632																																						ENST00000375377.1	1.000000	0.650000	1	7.900000e-01	0.960000	0.918324	0.960000	1.000000																										0				75						c.(3835-3837)gCc>gTc		KIAA1462							48.0	47.0	47.0					10																	30315241		1939	4134	6073	SO:0001583	missense	57608	0	0					g.chr10:30315241G>A	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.3836C>T	chr10.hg19:g.30315241G>A	ENSP00000364526:p.Ala1279Val	0						p.A1279V	NM_020848.2	NP_065899.1	1	2	3	2.000167	Q9P266	JCAD_HUMAN		3	3937	-			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	1	1	hg19	c.3836C>T	CCDS41500.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.44	2.35	0.29111	5.44	2.35	0.29111	.	0.898410	0.09575	N	0.783702	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	P	0.42296	0.775	B	0.42282	0.382	T	0.27872	-1.0061	10	0.66056	D	0.02	-2.1189	16.3529	0.83224	0.0:0.3723:0.6277:0.0	.	1279	Q9P266	K1462_HUMAN	V	1279	ENSP00000364526:A1279V	ENSP00000364526:A1279V	A	-	2	0	0	KIAA1462	30355247	30355247	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.632000	0.30432	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-2.966611	1	0.170000	NM_020848			29	28		332	325	0		1	0		0	0	69	0		1	9.073401e-01	0	0	0	49	0	29	332
KIAA1462	57608	broad.mit.edu	37	10	30315768	30315768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1103					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						CCGCTCTCCGGATGCCCGGCA	0.627																																						ENST00000375377.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(3307-3309)atC>atT		KIAA1462							58.0	60.0	60.0					10																	30315768		1958	4168	6126	SO:0001819	synonymous_variant	57608	0	0					g.chr10:30315768G>A	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.3309C>T	chr10.hg19:g.30315768G>A		0						p.I1103I	NM_020848.2	NP_065899.1	1	2	3	2.000167	Q9P266	JCAD_HUMAN		3	3410	-			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	1	1	hg19	c.3309C>T	CCDS41500.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1		2	2	2	0		0	0	126		126	122	1	2.060000	-20.000000	1	0.170000	NM_020848			159	156		515	507	1		1	0		0	0	126	0		1	9.971360e-01	0	1	0	30	0	159	515
KIAA1462	57608	broad.mit.edu	37	10	30316752	30316752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	775					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						CTTTTGGCGTCGGTGCCTGGT	0.637																																						ENST00000375377.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2323-2325)ccG>ccA		KIAA1462							54.0	58.0	57.0					10																	30316752		2081	4202	6283	SO:0001819	synonymous_variant	57608	1	121078	31				g.chr10:30316752C>T	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.2325G>A	chr10.hg19:g.30316752C>T		0						p.P775P	NM_020848.2	NP_065899.1	1	2	3	2.000167	Q9P266	JCAD_HUMAN		3	2426	-			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	1	1	hg19	c.2325G>A	CCDS41500.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1		2	2	2	0		0	0	93		93	90	1	2.060000	-3.318011	1	0.170000	NM_020848			105	105		462	456	1		1	0		0	0	93	0		1	9.985808e-01	0	1	0	44	0	105	462
KIAA1462	57608	broad.mit.edu	37	10	30316881	30316881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	732					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						ATGCTGTGTGCGTCTGAGCTT	0.572																																						ENST00000375377.1	1.000000	0.410000	9.100000e-01	5.300000e-01	0.690000	0.714352	0.690000	1.000000																										0				75						c.(2194-2196)acG>acA		KIAA1462							56.0	58.0	58.0					10																	30316881		2118	4244	6362	SO:0001819	synonymous_variant	57608	0	0					g.chr10:30316881C>T	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.2196G>A	chr10.hg19:g.30316881C>T		0						p.T732T	NM_020848.2	NP_065899.1	1	2	3	2.000167	Q9P266	JCAD_HUMAN		3	2297	-			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	1	1	hg19	c.2196G>A	CCDS41500.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-18.540850	1	0.170000	NM_020848			16	15		264	257	0		1	0		0	0	50	0		9.999244e-01	7.876727e-01	0	0	0	50	0	16	264
KIAA1462	57608	broad.mit.edu	37	10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	rs78646257	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	402	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						CTGAGGCAAGCGGGGGCTCAC	0.587													C|||	7	0.00139776	0.0	0.0	5008	,	,		17711	0.006		0.001	False		,,,				2504	0.0					ENST00000375377.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1204-1206)cGc>cAc		KIAA1462		C	HIS/ARG	2,3896		0,2,1947	62.0	68.0	66.0		1205	-1.1	0.0	10	dbSNP_131	66	13,8253		0,13,4120	yes	missense	KIAA1462	NM_020848.2	29	0,15,6067	TT,TC,CC		0.1573,0.0513,0.1233	benign	402/1360	30317872	15,12149	1949	4133	6082	SO:0001583	missense	57608	119	120882	54				g.chr10:30317872C>T	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.1205G>A	chr10.hg19:g.30317872C>T	ENSP00000364526:p.Arg402His	0						p.R402H	NM_020848.2	NP_065899.1	1	2	3	2.000167	Q9P266	JCAD_HUMAN		3	1306	-			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	1	0	hg19	c.1205G>A	CCDS41500.1	1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.565	1.119386	0.20877	5.13E-4	0.001573	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.28	-1.06	0.10002	5.28	-1.06	0.10002	.	1.047670	0.07427	N	0.895065	T	0.06462	0.0166	L	0.41236	1.265	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.42965	-0.9420	10	0.13853	T	0.58	-0.674	4.8785	0.13668	0.1576:0.29:0.0:0.5523	.	402	Q9P266	K1462_HUMAN	H	402	ENSP00000364526:R402H	ENSP00000364526:R402H	R	-	2	0	0	KIAA1462	30357878	30357878	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.251000	0.09542	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1		2	2	2	0		0	0	135		135	132	1	2.060000	-3.195504	1	0.170000	NM_020848			133	130		550	540	1		1	0		0	0	135	0		1	9.837876e-01	0	0	0	29	0	133	550
MTPAP	55149	broad.mit.edu	37	10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000263063.4	-	6	1047	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	335					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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373																																						ENST00000263063.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1003-1005)aCa>aTa		mitochondrial poly(A) polymerase							40.0	40.0	40.0					10																	30611535		2203	4300	6503	SO:0001583	missense	55149	0	0					g.chr10:30611535G>A	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.1004C>T	chr10.hg19:g.30611535G>A	ENSP00000263063:p.Thr335Ile	0					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I	p.T335I	NM_018109.3	NP_060579.3	1	2	3	2.000167	Q9NVV4	PAPD1_HUMAN		6	1047	-			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	1	1	hg19	c.1004C>T	CCDS7165.1	1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799941	0.31869	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.40225	1.04;1.04	5.66	3.33	0.38152	5.66	3.33	0.38152	.	0.249755	0.45867	D	0.000323	T	0.19248	0.0462	N	0.08118	0	0.29088	N	0.882245	P;B	0.45011	0.848;0.004	B;B	0.41646	0.362;0.002	T	0.05616	-1.0874	10	0.23891	T	0.37	-24.4344	4.2878	0.10863	0.0:0.2656:0.1765:0.5579	.	465;335	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	465;335	ENSP00000350820:T465I;ENSP00000263063:T335I	ENSP00000263063:T335I	T	-	2	0	0	MTPAP	30651541	30651541	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.778000	0.26732	0.509000	0.28195	-0.493000	0.04662	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_018109			35	35		119	118	0		1	1		0	0	27	0		1	9.999080e-01	0	10	0	43	0	35	119
MTPAP	55149	broad.mit.edu	37	10	30615489	30615489	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30615489A>G	ENST00000263063.4	-	5	899	c.856T>C	c.(856-858)Tct>Cct	p.S286P	MTPAP_ENST00000358107.4_Missense_Mutation_p.S416P|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	286					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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTAACACAGACAGGATCTTC	0.423																																						ENST00000263063.4	1.000000	0.080000	2.400000e-01	1.200000e-01	0.170000	0.224725	0.170000	0.170000																										0				33						c.(856-858)Tct>Cct		mitochondrial poly(A) polymerase							122.0	133.0	129.0					10																	30615489		2203	4300	6503	SO:0001583	missense	55149	0	0					g.chr10:30615489A>G	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.856T>C	chr10.hg19:g.30615489A>G	ENSP00000263063:p.Ser286Pro	0					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S416P	p.S286P	NM_018109.3	NP_060579.3	1	2	3	2.000167	Q9NVV4	PAPD1_HUMAN		5	899	-			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	0	1	hg19	c.856T>C	CCDS7165.1	0	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828915	0.90955	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.84846	2.72	0.58432	D	0.999999	D;P	0.89917	1.0;0.835	D;P	0.72338	0.977;0.616	T	0.70008	-0.4990	10	0.39692	T	0.17	-23.4236	15.3308	0.74208	1.0:0.0:0.0:0.0	.	416;286	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	P	416;286	ENSP00000350820:S416P;ENSP00000263063:S286P	ENSP00000263063:S286P	S	-	1	0	0	MTPAP	30655495	30655495	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.004000	0.70709	2.083000	0.62718	0.383000	0.25322	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	0	0	0		2	2	2	0		0	0	167		167	165	1	2.060000	-3.143559	1	0.170000	NM_018109			12	12		841	827	0		1	1		0	0	167	0		9.990200e-01	1.522834e-01	0	2	0	43	0	12	841
MTPAP	55149	broad.mit.edu	37	10	30629378	30629378	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000263063.4	-	3	375	c.332G>A	c.(331-333)gGt>gAt	p.G111D	MTPAP_ENST00000358107.4_Splice_Site_p.G241D|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	111					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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353																																						ENST00000263063.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(331-333)gGt>gAt		mitochondrial poly(A) polymerase																																				SO:0001630	splice_region_variant	55149	0	0					g.chr10:30629378C>T	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.331-1G>A	chr10.hg19:g.30629378C>T		0					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Splice_Site_p.G241D	p.G111D	NM_018109.3	NP_060579.3	1	2	3	2.000167	Q9NVV4	PAPD1_HUMAN		3	375	-			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Splice_Site	SNP	ENST00000263063.4	1	0	hg19	c.332G>A	CCDS7165.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440161	0.83993	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.952	T	0.47209	-0.9135	10	0.16420	T	0.52	-19.6079	18.5135	0.90926	0.0:1.0:0.0:0.0	.	73;241;111	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	D	241;111;46;73	ENSP00000350820:G241D;ENSP00000263063:G111D;ENSP00000404392:G46D;ENSP00000394118:G73D	ENSP00000263063:G111D	G	-	2	0	0	MTPAP	30669384	30669384	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.292000	0.72725	2.431000	0.82371	0.591000	0.81541	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_018109	Missense_Mutation		60	60		313	308	1		1	1		0	0	71	0		1	9.937626e-01	0	15	0	28	0	60	313
MAP3K8	1326	broad.mit.edu	37	10	30747153	30747153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632																																						ENST00000263056.1	1.000000	0.630000	1	8.000000e-01	0.990000	0.928563	0.990000	1.000000																										0				23						c.(1012-1014)tcC>tcT		mitogen-activated protein kinase kinase kinase 8							40.0	37.0	38.0					10																	30747153		2203	4300	6503	SO:0001819	synonymous_variant	1326	0	0					g.chr10:30747153C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1014C>T	chr10.hg19:g.30747153C>T		0					MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	1	2	3	2.000167	P41279	M3K8_HUMAN		7	1710	+		Prostate(175;0.151)	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	1	1	hg19	c.1014C>T	CCDS7166.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-19.999990	1	0.170000	NM_005204			19	19		206	200	0		1	0		0	0	52	0		9.999900e-01	8.538284e-01	0	1	0	39	0	19	206
ZNF438	220929	broad.mit.edu	37	10	31138175	31138175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000361310.3	-	6	1488	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W|ZNF438_ENST00000375311.1_De_novo_Start_OutOfFrame|ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	387					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)			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)				GGTACCTTCCGTTTTCTTCCT	0.388																																						ENST00000361310.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1159-1161)Cgg>Tgg		zinc finger protein 438							110.0	105.0	107.0					10																	31138175		2203	4300	6503	SO:0001583	missense	220929	10	121412	43				g.chr10:31138175G>A	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.1159C>T	chr10.hg19:g.31138175G>A	ENSP00000354663:p.Arg387Trp	0					ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000375311.1_De_novo_Start_OutOfFrame|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W	p.R387W			1	2	3	2.000167	Q7Z4V0	ZN438_HUMAN		6	1488	-		Prostate(175;0.0587)	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	1	0	hg19	c.1159C>T	CCDS7168.1	1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517255	0.13005	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	1.75	0.24633	5.73	1.75	0.24633	.	0.248451	0.45867	N	0.000325	T	0.07188	0.0182	L	0.34521	1.04	0.37336	D	0.910175	P;P	0.41710	0.647;0.76	B;B	0.32533	0.07;0.147	T	0.37865	-0.9687	10	0.42905	T	0.14	-7.1085	4.2712	0.10787	0.2313:0.0:0.3906:0.3781	.	387;377	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	377;387;387;387;387;377;377;338;106	ENSP00000333571:R377W;ENSP00000354663:R387W;ENSP00000406934:R387W;ENSP00000412363:R387W;ENSP00000387546:R387W;ENSP00000413060:R377W;ENSP00000410898:R377W;ENSP00000445461:R338W	ENSP00000333571:R377W	R	-	1	2	2	ZNF438	31178181	31178181	0.985000	0.35326	0.003000	0.11579	0.048000	0.14542	2.098000	0.41757	0.063000	0.16370	-0.133000	0.14855	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.446191	1	0.170000	NM_182755			119	116		511	502	1		1	1		0	0	81	0		1	9.999313e-01	0	8	0	53	0	119	511
ZEB1	6935	broad.mit.edu	37	10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000320985.10	+	7	2144	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	678					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000320985.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2032-2034)caA>caC		zinc finger E-box binding homeobox 1		A	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	0,4406		0,0,2203	74.0	66.0	69.0		1986,1974,1983,1833,2037,2034	-6.0	0.0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	24,24,24,24,24,24	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	662/1109,658/1105,661/1108,611/1058,679/1126,678/1125	31810297	1,13005	2203	4300	6503	SO:0001583	missense	6935	1	121400	37				g.chr10:31810297A>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2034A>C	chr10.hg19:g.31810297A>C	ENSP00000319248:p.Gln678His	0					ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H	p.Q678H			1	2	3	2.000167	P37275	ZEB1_HUMAN		7	2144	+		Prostate(175;0.0156)	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	1	1	hg19	c.2034A>C	CCDS7169.1	1	.	.	.	.	.	.	.	.	.	.	A	4.696	0.129452	0.08981	0.0	1.16E-4	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.97;2.66;2.71;2.66;2.71	5.34	-6.03	0.02185	5.34	-6.03	0.02185	.	1.439760	0.04244	N	0.337441	T	0.18923	0.0454	L	0.51422	1.61	0.24957	N	0.991758	P;P;P;P;P;P;P;P	0.44478	0.836;0.755;0.761;0.761;0.641;0.748;0.761;0.761	P;P;B;B;B;B;B;B	0.47102	0.537;0.465;0.275;0.275;0.275;0.308;0.275;0.275	T	0.45131	-0.9282	10	0.62326	D	0.03	-3.8958	12.1316	0.53946	0.7633:0.0:0.1351:0.1016	.	611;678;662;678;678;658;679;678	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	460;678;679;678;611;678;658;537;569;662	ENSP00000444282:Q460H;ENSP00000354487:Q679H;ENSP00000444891:Q611H;ENSP00000319248:Q678H;ENSP00000391612:Q662H	ENSP00000319248:Q678H	Q	+	3	2	2	ZEB1	31850303	31850303	0.000000	0.05858	0.009000	0.14445	0.215000	0.24574	-1.025000	0.03600	-1.292000	0.02366	-0.242000	0.12053	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_030751			60	59		265	262	1		1	1		0	0	42	0		1	1	0	3	0	186	0	60	265
ZEB1	6935	broad.mit.edu	37	10	31815766	31815766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000320985.10	+	9	3059	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000446923.2_Silent_p.Y967Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	983					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000320985.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2947-2949)taC>taT		zinc finger E-box binding homeobox 1							102.0	85.0	91.0					10																	31815766		2203	4300	6503	SO:0001819	synonymous_variant	6935	0	0					g.chr10:31815766C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2949C>T	chr10.hg19:g.31815766C>T		0					ZEB1_ENST00000446923.2_Silent_p.Y967Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y	p.Y983Y			1	2	3	2.000167	P37275	ZEB1_HUMAN		9	3059	+		Prostate(175;0.0156)	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	1	1	hg19	c.2949C>T	CCDS7169.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_030751			62	60		222	218	1		1	1		0	0	64	0		1	1	0	7	0	142	0	62	222
ARHGAP12	94134	broad.mit.edu	37	10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000344936.2	-	16	2223	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q633H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323																																						ENST00000344936.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				31						c.(1987-1989)caG>caT		Rho GTPase activating protein 12							122.0	122.0	122.0					10																	32099638		2203	4300	6503	SO:0001583	missense	94134	0	0					g.chr10:32099638C>A	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.1989G>T	chr10.hg19:g.32099638C>A	ENSP00000345808:p.Gln663His	0					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q633H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H	p.Q663H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	1	2	3	2.000167	Q8IWW6	RHG12_HUMAN		16	2223	-		Prostate(175;0.0199)	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	1	1	hg19	c.1989G>T	CCDS7170.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832659	0.32421	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.55	3.68	0.42216	5.55	3.68	0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.054607	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31926	0.97	0.53688	D	0.999977	B;B;B;B;B	0.31752	0.124;0.095;0.228;0.228;0.338	B;B;B;B;B	0.30029	0.052;0.056;0.051;0.051;0.11	T	0.12760	-1.0535	10	0.87932	D	0	.	10.4217	0.44354	0.0:0.7548:0.0:0.2452	.	616;633;658;663;611	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	H	611;633;663;658;611	ENSP00000310984:Q611H;ENSP00000364399:Q633H;ENSP00000345808:Q663H;ENSP00000379448:Q658H;ENSP00000364394:Q611H	ENSP00000310984:Q611H	Q	-	3	2	2	ARHGAP12	32139644	32139644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.987000	0.29603	0.724000	0.32296	-1.151000	0.01829	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.076019	1	0.170000				45	45		296	290	1		1	1		0	0	110	0		1	9.999162e-01	0	17	0	77	0	45	296
KIF5B	3799	broad.mit.edu	37	10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	469					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)		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)				AGCTTGCATATTGTCTTGATC	0.373			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000				Dom	yes			Dom	yes		10	10p11.22	10p11.22	3799	T	kinesin family member 5B				E	E	RET, ALK		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				35						c.(1405-1407)aAt>aGt		kinesin family member 5B							95.0	88.0	91.0					10																	32320176		2203	4300	6503	SO:0001583	missense	3799	0	0					g.chr10:32320176T>C	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.1406A>G	chr10.hg19:g.32320176T>C	ENSP00000307078:p.Asn469Ser	0						p.N469S	NM_004521.2	NP_004512.1	1	2	3	2.000167	P33176	KINH_HUMAN		14	1863	-		Prostate(175;0.0137)	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	1	1	hg19	c.1406A>G	CCDS7171.1	1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862708	0.32884	.	.	ENSG00000170759	ENST00000302418	D	0.84660	-1.88	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.38175	1.15	0.37600	D	0.920517	B	0.12013	0.005	B	0.12156	0.007	T	0.75792	-0.3193	10	0.19590	T	0.45	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	469	P33176	KINH_HUMAN	S	469	ENSP00000307078:N469S	ENSP00000307078:N469S	N	-	2	0	0	KIF5B	32360182	32360182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.371000	0.80710	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_004521			35	35		200	199	1		1	1		0	0	25	0		1	1	0	77	0	285	0	35	200
EPC1	80314	broad.mit.edu	37	10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000263062.8	-	14	2689	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	EPC1_ENST00000319778.6_Missense_Mutation_p.S784Y|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	807					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428																																						ENST00000263062.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2419-2421)tCt>tAt		enhancer of polycomb homolog 1 (Drosophila)							117.0	113.0	114.0					10																	32560500		2203	4300	6503	SO:0001583	missense	80314	0	0					g.chr10:32560500G>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2420C>A	chr10.hg19:g.32560500G>T	ENSP00000263062:p.Ser807Tyr	0					EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S784Y	p.S807Y	NM_025209.2	NP_079485.1	1	2	3	2.000167	Q9H2F5	EPC1_HUMAN		14	2689	-		Prostate(175;0.0199)	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	1	1	hg19	c.2420C>A	CCDS7172.1	1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277662	0.59758	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.370006	0.31290	N	0.007906	T	0.61714	0.2369	L	0.40543	1.245	0.33429	D	0.580917	D;D;P	0.61080	0.987;0.989;0.956	P;P;P	0.58391	0.838;0.655;0.828	T	0.73445	-0.3980	9	0.87932	D	0	-2.4986	17.8998	0.88900	0.0:0.0:1.0:0.0	.	734;784;807	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	Y	734;784;807	.	ENSP00000263062:S807Y	S	-	2	0	0	EPC1	32600506	32600506	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	6.040000	0.70980	2.214000	0.71695	0.299000	0.19835	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	0		2	2	2	0		0	0	187		187	185	1	2.060000	-20.000000	1	0.170000				144	144		651	642	1		1	1		0	0	187	0		1	9.999997e-01	0	22	0	73	0	144	651
EPC1	80314	broad.mit.edu	37	10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000263062.8	-	14	2592	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	EPC1_ENST00000319778.6_Nonsense_Mutation_p.R752*|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	775					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443																																						ENST00000263062.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2323-2325)Cga>Tga		enhancer of polycomb homolog 1 (Drosophila)							216.0	197.0	204.0					10																	32560597		2203	4300	6503	SO:0001587	stop_gained	80314	1	121412	35				g.chr10:32560597G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2323C>T	chr10.hg19:g.32560597G>A	ENSP00000263062:p.Arg775*	0					EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Nonsense_Mutation_p.R752*	p.R775*	NM_025209.2	NP_079485.1	1	2	3	2.000167	Q9H2F5	EPC1_HUMAN		14	2592	-		Prostate(175;0.0199)	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Nonsense_Mutation	SNP	ENST00000263062.8	0	1	hg19	c.2323C>T	CCDS7172.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.302857	0.99130	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.247523	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.3252	18.8808	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	702;752;775	.	ENSP00000263062:R775X	R	-	1	2	2	EPC1	32600603	32600603	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.245000	0.72398	2.442000	0.82660	0.306000	0.20318	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	0		2	2	2	0		0	0	192		192	192	1	2.060000	-20.000000	1	0.170000				172	172		818	807	0		1	1		0	0	192	0		1	9.999741e-01	0	14	0	58	0	172	818
EPC1	80314	broad.mit.edu	37	10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000263062.8	-	1	273	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S2G|EPC1_ENST00000480402.1_5'UTR|AL391839.1_ENST00000410377.1_RNA|RP11-135A24.2_ENST00000417447.1_RNA|EPC1_ENST00000375110.2_Intron	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	2					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642																																						ENST00000263062.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(4-6)Agt>Ggt		enhancer of polycomb homolog 1 (Drosophila)							38.0	41.0	40.0					10																	32635840		2203	4300	6503	SO:0001583	missense	80314	0	0					g.chr10:32635840T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.4A>G	chr10.hg19:g.32635840T>C	ENSP00000263062:p.Ser2Gly	0					EPC1_ENST00000480402.1_5'UTR|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000375110.2_Intron|EPC1_ENST00000319778.6_Missense_Mutation_p.S2G|AL391839.1_ENST00000410377.1_RNA|RP11-135A24.2_ENST00000417447.1_RNA	p.S2G	NM_025209.2	NP_079485.1	1	2	3	2.000167	Q9H2F5	EPC1_HUMAN		1	273	-		Prostate(175;0.0199)	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	1	1	hg19	c.4A>G	CCDS7172.1	1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967458	0.92855	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	.	.	.	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.087777	0.85682	D	0.000000	T	0.76414	0.3984	M	0.66939	2.045	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.907	T	0.79412	-0.1814	9	0.87932	D	0	-8.3521	13.3215	0.60436	0.0:0.0:0.0:1.0	.	2;2	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	G	2	.	ENSP00000263062:S2G	S	-	1	0	0	EPC1	32675846	32675846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.945000	0.75947	1.739000	0.51704	0.418000	0.28097	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000				61	61		241	239	0		1	1		0	0	61	0		1	9.830824e-01	0	9	0	19	0	61	241
CCDC7	79741	broad.mit.edu	37	10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M			Q9H943	CJ068_HUMAN		64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299																																						ENST00000375030.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(214-216)aGg>aTg									58.0	61.0	60.0					10																	32978017		2203	4296	6499	SO:0001583	missense	0	0	0					g.chr10:32978017G>T																												ENST00000375030.2:c.215G>T	chr10.hg19:g.32978017G>T	ENSP00000364170:p.Arg72Met	0					C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M|C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M	p.R72M			1	2	3	2.000167	Q9H943	CJ068_HUMAN		8	833	+			B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	1	1	hg19	c.215G>T		1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.471352	0.26423	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33865	1.43;1.39;1.7;1.41	3.42	-0.376	0.12505	3.42	-0.376	0.12505	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B;B;P	0.35411	0.282;0.282;0.5	B;B;B	0.34931	0.126;0.126;0.192	T	0.17410	-1.0370	9	0.54805	T	0.06	.	3.1615	0.06522	0.5187:0.2197:0.2616:0.0	.	64;78;72	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	M	64;72;78;64;50	ENSP00000303710:R64M;ENSP00000364170:R72M;ENSP00000364168:R78M;ENSP00000364165:R64M	ENSP00000303710:R64M	R	+	2	0	0	C10orf68	33018023	33018023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.508000	0.06344	-0.078000	0.12730	-0.350000	0.07774	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.527027	1	0.170000				33	33		142	140	1		1	0		0	0	38	0		1	3.777058e-02	0	1	0	1	0	33	142
CCDC7	79741	broad.mit.edu	37	10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T	rs556688742		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN		103										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCTTGAACATCAAGATTCAGT	0.318																																						ENST00000375030.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				29						c.(331-333)Caa>Taa									46.0	45.0	45.0					10																	32983848		2201	4298	6499	SO:0001587	stop_gained	0	0	0					g.chr10:32983848C>T																												ENST00000375030.2:c.331C>T	chr10.hg19:g.32983848C>T	ENSP00000364170:p.Gln111*	0					C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*	p.Q111*			1	2	3	2.000167	Q9H943	CJ068_HUMAN		9	949	+			B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375030.2	0	1	hg19	c.331C>T		1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.154936	0.78114	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	.	.	.	2.91	-0.495	0.12030	2.91	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0702	0.14602	0.4208:0.3728:0.2064:0.0	.	.	.	.	X	103;111;103	.	ENSP00000303710:Q103X	Q	+	1	0	0	C10orf68	33023854	33023854	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.956000	0.29202	-0.100000	0.12241	0.467000	0.42956	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-3.406604	1	0.170000				24	25		107	106	1		1			0	0	35	0		9.999999e-01	0	0	0	0	0	0	24	107
CCDC7	79741	broad.mit.edu	37	10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375028.3	+	11	1004	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		336										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284																																						ENST00000375028.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(934-936)Cga>Tga									89.0	94.0	92.0					10																	33113457		2203	4295	6498	SO:0001587	stop_gained	0	3	121392	34				g.chr10:33113457C>T																												ENST00000375028.3:c.934C>T	chr10.hg19:g.33113457C>T	ENSP00000364168:p.Arg312*	0					C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron	p.R312*			1	2	3	2.000167	Q9H943	CJ068_HUMAN		11	1004	+			B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375028.3	0	1	hg19	c.934C>T		1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.219350	0.58560	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.06	0.0262	0.14149	2.06	0.0262	0.14149	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3043	0.06994	0.0:0.5489:0.2756:0.1754	.	.	.	.	X	336;312;372;284	.	ENSP00000303710:R336X	R	+	1	2	2	C10orf68	33153463	33153463	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.988000	0.01482	0.021000	0.15133	0.305000	0.20034	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.408846	1	0.170000				52	52		240	234	1		1	0		0	0	84	0		1	8.673376e-02	0	0	0	3	0	52	240
CCDC7	79741	broad.mit.edu	37	10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I			Q9H943	CJ068_HUMAN		446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCTATAGAGACTGATAAAGAA	0.289																																						ENST00000375030.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999878	0.990000	1.000000																										0				29						c.(1213-1215)aCt>aTt									37.0	41.0	40.0					10																	33135307		2195	4270	6465	SO:0001583	missense	0	0	0					g.chr10:33135307C>T																												ENST00000375030.2:c.1214C>T	chr10.hg19:g.33135307C>T	ENSP00000364170:p.Thr405Ile	0					C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I|C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I	p.T405I			1	2	3	2.000167	Q9H943	CJ068_HUMAN		18	1832	+			B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	1	1	hg19	c.1214C>T		1	.	.	.	.	.	.	.	.	.	.	.	8.117	0.780115	0.16120	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.7;1.59;1.59	2.21	1.27	0.21489	2.21	1.27	0.21489	.	.	.	.	.	T	0.44993	0.1320	M	0.62723	1.935	0.09310	N	1	B;B;B;D	0.65815	0.042;0.015;0.137;0.995	B;B;B;D	0.66351	0.019;0.019;0.031;0.943	T	0.17592	-1.0364	9	0.56958	D	0.05	.	6.0096	0.19567	0.307:0.693:0.0:0.0	.	427;446;450;405	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	446;405;450;510;422	ENSP00000303710:T446I;ENSP00000364170:T405I;ENSP00000364168:T450I;ENSP00000364165:T510I	ENSP00000303710:T446I	T	+	2	0	0	C10orf68	33175313	33175313	0.000000	0.05858	0.060000	0.19600	0.272000	0.26649	-0.030000	0.12308	0.466000	0.27193	0.453000	0.30009	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-15.865800	1	0.170000				30	30		177	175	1		1	0		0	0	45	0		1	0	0	0	0	1	0	30	177
NRP1	8829	broad.mit.edu	37	10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)			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)	TTGTTCTCTCGGTGCTTCCCA	0.522																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1516-1518)Cga>Tga		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						230.0	195.0	207.0					10																	33502412		2203	4300	6503	SO:0001587	stop_gained	8829	0	0					g.chr10:33502412G>A	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.1516C>T	chr10.hg19:g.33502412G>A	ENSP00000265371:p.Arg506*	0					NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*	p.R506*			1	2	3	2.000167	O14786	NRP1_HUMAN		10	2041	-			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	0	1	hg19	c.1516C>T	CCDS7177.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.591483	0.99433	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.95	2.72	0.32119	5.95	2.72	0.32119	.	0.106857	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.8145	15.4444	0.75216	0.0:0.0:0.368:0.632	.	.	.	.	X	506;325;506;506;506;506;506;506;179	.	ENSP00000265371:R506X	R	-	1	2	2	NRP1	33542418	33542418	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.187000	0.42602	0.688000	0.31529	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-2.466108	0	0.170000				165	162		735	708	1		1	0		0	0	149	0		1	1	0	0	0	419	0	165	735
PARD3	56288	broad.mit.edu	37	10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					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)			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)				GTTCAGCCTCGCAACCTGAGA	0.542																																						ENST00000374789.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(4018-4020)gCg>gTg		par-3 family cell polarity regulator							46.0	51.0	49.0					10																	34400149		2203	4300	6503	SO:0001583	missense	56288	1	121412	37				g.chr10:34400149G>A	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.4019C>T	chr10.hg19:g.34400149G>A	ENSP00000363921:p.Ala1340Val	0					PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V	p.A1340V	NM_019619.3	NP_062565.2	1	2	3	2.000167	Q8TEW0	PARD3_HUMAN		25	4344	-		Breast(68;0.0707)	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	1	1	hg19	c.4019C>T	CCDS7178.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696904	0.48202	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17213	2.42;2.32;2.43;2.44;2.35;2.32;2.29;2.38	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.151617	0.64402	D	0.000014	T	0.31796	0.0808	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.535;1.0;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D	0.85130	0.997;0.049;0.997;0.997;0.997;0.997;0.997;0.994	T	0.01266	-1.1401	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324V;ENSP00000440857:A1250V;ENSP00000363921:A1340V;ENSP00000363920:A1337V;ENSP00000340591:A1303V;ENSP00000363926:A1228V;ENSP00000311986:A1294V;ENSP00000363922:A1280V	ENSP00000340591:A1303V	A	-	2	0	0	PARD3	34440155	34440155	1.000000	0.71417	0.370000	0.25965	0.918000	0.54935	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_019619			72	71		298	293	1		1	1		0	0	74	0		1	9.713135e-01	0	7	0	19	0	72	298
PARD3	56288	broad.mit.edu	37	10	34420423	34420423	+	Missense_Mutation	SNP	G	G	A	rs149035058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34420423G>A	ENST00000374789.3	-	23	3842	c.3517C>T	c.(3517-3519)Cgt>Tgt	p.R1173C	PARD3_ENST00000374790.3_Missense_Mutation_p.R1113C|PARD3_ENST00000545260.1_Missense_Mutation_p.R1083C|PARD3_ENST00000350537.4_Missense_Mutation_p.R1127C|PARD3_ENST00000374788.3_Missense_Mutation_p.R1170C|PARD3_ENST00000346874.4_Missense_Mutation_p.R1136C|PARD3_ENST00000545693.1_Missense_Mutation_p.R1157C|PARD3_ENST00000374794.3_Missense_Mutation_p.R1061C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1173					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)			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)				GTCCGCCGACGATCTTCTACA	0.458													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19359	0.0		0.0	False		,,,				2504	0.0					ENST00000374789.3	1.000000	0.280000	6.500000e-01	3.700000e-01	0.490000	0.525278	0.490000	0.460000																										0				63						c.(3517-3519)Cgt>Tgt		par-3 family cell polarity regulator		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	5,4401	11.4+/-27.6	0,5,2198	240.0	196.0	211.0		3508,3469,3406,3379,3268,3247,3181,3517	5.0	0.6	10	dbSNP_134	211	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_019619.3	180,180,180,180,180,180,180,180	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1170/1354,1157/1341,1136/1320,1127/1311,1090/1274,1083/1267,1061/1245,1173/1357	34420423	5,13001	2203	4300	6503	SO:0001583	missense	56288	19	121412	46				g.chr10:34420423G>A	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.3517C>T	chr10.hg19:g.34420423G>A	ENSP00000363921:p.Arg1173Cys	0					PARD3_ENST00000545693.1_Missense_Mutation_p.R1157C|PARD3_ENST00000545260.1_Missense_Mutation_p.R1083C|PARD3_ENST00000374794.3_Missense_Mutation_p.R1061C|PARD3_ENST00000374788.3_Missense_Mutation_p.R1170C|PARD3_ENST00000346874.4_Missense_Mutation_p.R1136C|PARD3_ENST00000374790.3_Missense_Mutation_p.R1113C|PARD3_ENST00000350537.4_Missense_Mutation_p.R1127C	p.R1173C	NM_019619.3	NP_062565.2	1	2	3	2.000167	Q8TEW0	PARD3_HUMAN		23	3842	-		Breast(68;0.0707)	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	1	0	hg19	c.3517C>T	CCDS7178.1	0	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	18.85	3.711558	0.68730	0.001135	0.0	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.20200	2.12;2.09;2.17;2.17;2.27;2.22;2.09;2.11	5.93	4.98	0.66077	5.93	4.98	0.66077	.	0.051842	0.85682	D	0.000000	T	0.35624	0.0938	M	0.62723	1.935	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	0.97;0.966;0.999;0.999;0.999;0.97;0.999;0.997	T	0.31833	-0.9929	10	0.87932	D	0	.	14.047	0.64710	0.0:0.0:0.6138:0.3861	.	1061;1083;1090;1127;1157;1136;1170;1173	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	C	1157;1083;1173;1170;1136;1061;1127;1113	ENSP00000443147:R1157C;ENSP00000440857:R1083C;ENSP00000363921:R1173C;ENSP00000363920:R1170C;ENSP00000340591:R1136C;ENSP00000363926:R1061C;ENSP00000311986:R1127C;ENSP00000363922:R1113C	ENSP00000340591:R1136C	R	-	1	0	0	PARD3	34460429	34460429	1.000000	0.71417	0.634000	0.29324	0.752000	0.42762	4.226000	0.58606	1.338000	0.45544	0.557000	0.71058	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-4.305019	1	0.170000	NM_019619			15	14		359	348	0		1	0		0	0	64	0		9.998447e-01	7.230379e-01	0	1	0	61	0	15	359
PARD3	56288	broad.mit.edu	37	10	34649102	34649102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34649102G>T	ENST00000374789.3	-	13	2118	c.1793C>A	c.(1792-1794)tCt>tAt	p.S598Y	PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	598	PDZ 3. {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)			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)				AAGGCCTGCAGATCCTGAATC	0.428																																						ENST00000374789.3	1.000000	0.100000	3.100000e-01	1.400000e-01	0.210000	0.262020	0.210000	0.190000																										0				63						c.(1792-1794)tCt>tAt		par-3 family cell polarity regulator							141.0	128.0	132.0					10																	34649102		2203	4300	6503	SO:0001583	missense	56288	0	0					g.chr10:34649102G>T	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.1793C>A	chr10.hg19:g.34649102G>T	ENSP00000363921:p.Ser598Tyr	0					PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y	p.S598Y	NM_019619.3	NP_062565.2	1	2	3	2.000167	Q8TEW0	PARD3_HUMAN		13	2118	-		Breast(68;0.0707)	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	0	1	hg19	c.1793C>A	CCDS7178.1	0	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632542	0.87660	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.95	5.95	0.96441	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.93;1.0;1.0;0.994;1.0;1.0;0.991	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.97110	0.999;0.991;0.998;0.999;0.998;0.999;0.999;0.99;0.677;0.999;1.0;0.981;0.993;1.0;0.957	T	0.48502	-0.9030	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	541;541;585;585;585;598;598;598;541;585;598;598;585;598;315	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;.;.;.;.;.;.;.	Y	585;541;598;598;598;541;585;541;585;598;598;315;36	ENSP00000443147:S585Y;ENSP00000440857:S541Y;ENSP00000363921:S598Y;ENSP00000363920:S598Y;ENSP00000340591:S598Y;ENSP00000363926:S541Y;ENSP00000311986:S585Y;ENSP00000363922:S541Y;ENSP00000363908:S585Y;ENSP00000341844:S598Y;ENSP00000363905:S598Y;ENSP00000444429:S315Y;ENSP00000363900:S36Y	ENSP00000341844:S598Y	S	-	2	0	0	PARD3	34689108	34689108	1.000000	0.71417	0.982000	0.44146	0.601000	0.36947	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	0	0	0		2	2	2	0		0	0	96		96	96	1	2.060000	-2.896929	1	0.170000	NM_019619			9	9		526	518	0		1	1		0	0	96	0		9.938825e-01	8.542668e-01	0	17	0	188	0	9	526
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					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)			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)				TCATCAAGGTCTAGTATTCCT	0.408																																						ENST00000374789.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(178-180)Gac>Aac		par-3 family cell polarity regulator							334.0	282.0	300.0					10																	34985290		2203	4300	6503	SO:0001583	missense	56288	0	0					g.chr10:34985290C>T	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.178G>A	chr10.hg19:g.34985290C>T	ENSP00000363921:p.Asp60Asn	0					PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N	p.D60N	NM_019619.3	NP_062565.2	1	2	3	2.000167	Q8TEW0	PARD3_HUMAN		2	503	-		Breast(68;0.0707)	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	1	1	hg19	c.178G>A	CCDS7178.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732192	0.89482	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.66	4.76	0.60689	5.66	4.76	0.60689	.	0.102022	0.64402	D	0.000004	T	0.80660	0.4665	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.892;0.996;0.998;0.996;0.999;0.999;0.997;0.999;0.999;0.994	D	0.84184	0.0441	10	0.87932	D	0	.	15.5948	0.76569	0.0:0.8615:0.1384:0.0	.	60;60;60;60;60;60;60;60;60;60;60	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	60	ENSP00000443147:D60N;ENSP00000440857:D60N;ENSP00000363921:D60N;ENSP00000363920:D60N;ENSP00000340591:D60N;ENSP00000363926:D60N;ENSP00000311986:D60N;ENSP00000363922:D60N;ENSP00000363908:D60N;ENSP00000341844:D60N;ENSP00000363905:D60N	ENSP00000341844:D60N	D	-	1	0	0	PARD3	35025296	35025296	1.000000	0.71417	0.172000	0.22920	0.872000	0.50106	7.336000	0.79245	1.377000	0.46286	0.650000	0.86243	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	1		2	2	2	0		0	0	219		219	216	1	2.060000	-20.000000	1	0.170000	NM_019619			155	150		824	809	1		1	1		0	0	219	0		1	9.993367e-01	0	14	0	44	0	155	824
CCNY	219771	broad.mit.edu	37	10	35841947	35841947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000265375.9_Splice_Site_p.V140M|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	194	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438																																						ENST00000374704.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(580-582)Gtg>Atg		cyclin Y							103.0	105.0	105.0					10																	35841947		2203	4300	6503	SO:0001630	splice_region_variant	219771	0	0					g.chr10:35841947G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.580-1G>A	chr10.hg19:g.35841947G>A		0					CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140M	p.V194M	NM_145012.4	NP_659449.3	1	2	3	2.000167	Q8ND76	CCNY_HUMAN		8	760	+			B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	1	0	hg19	c.580G>A	CCDS7189.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.242475	0.95272	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.32	5.32	0.75619	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.052937	0.85682	D	0.000000	D	0.95937	0.8677	M	0.92784	3.345	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.72338	0.966;0.962;0.977	D	0.96513	0.9380	9	.	.	.	-0.383	19.3632	0.94451	0.0:0.0:1.0:0.0	.	61;169;194	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	M	140;194;194;169;140;61	ENSP00000363838:V140M;ENSP00000363836:V194M;ENSP00000344275:V169M;ENSP00000265375:V140M	.	V	+	1	0	0	CCNY	35881953	35881953	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_181698	Missense_Mutation		81	81		337	333	1		1	1		0	0	89	0		1	1	0	51	0	177	0	81	337
CCNY	219771	broad.mit.edu	37	10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	215	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493																																						ENST00000374704.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(643-645)aTt>aCt		cyclin Y							132.0	132.0	132.0					10																	35842011		2203	4300	6503	SO:0001583	missense	219771	0	0					g.chr10:35842011T>C	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.644T>C	chr10.hg19:g.35842011T>C	ENSP00000363836:p.Ile215Thr	0					CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T	p.I215T	NM_145012.4	NP_659449.3	1	2	3	2.000167	Q8ND76	CCNY_HUMAN		8	824	+			B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	1	1	hg19	c.644T>C	CCDS7189.1	1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797952	0.70567	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.32	5.32	0.75619	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.046078	0.85682	D	0.000000	T	0.44414	0.1292	M	0.91972	3.26	0.80722	D	1	D;P;P	0.52996	0.957;0.837;0.866	P;P;P	0.62298	0.9;0.71;0.665	T	0.56414	-0.7983	10	0.87932	D	0	0.0576	15.5752	0.76373	0.0:0.0:0.0:1.0	.	82;190;215	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	161;215;215;190;161;82	ENSP00000363838:I161T;ENSP00000363836:I215T;ENSP00000344275:I190T;ENSP00000265375:I161T	ENSP00000265375:I161T	I	+	2	0	0	CCNY	35882017	35882017	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	7.965000	0.87945	2.142000	0.66516	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	1	0	0		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_181698			107	105		409	403	1		1	1		0	0	118	0		1	1	0	56	0	232	0	107	409
GJD4	219770	broad.mit.edu	37	10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	101					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746																																						ENST00000321660.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(301-303)Gcc>Acc		gap junction protein, delta 4, 40.1kDa							50.0	43.0	45.0					10																	35896742		2203	4300	6503	SO:0001583	missense	219770	0	0					g.chr10:35896742G>A	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.301G>A	chr10.hg19:g.35896742G>A	ENSP00000315070:p.Ala101Thr	0					RP11-425A6.5_ENST00000609313.1_RNA	p.A101T	NM_153368.2	NP_699199.2	1	2	3	2.000167	Q96KN9	CXD4_HUMAN		2	459	+			Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	1	1	hg19	c.301G>A	CCDS7191.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594813	0.46318	.	.	ENSG00000177291	ENST00000321660	D	0.97752	-4.52	6.11	-0.15	0.13416	6.11	-0.15	0.13416	.	0.885835	0.10230	N	0.699820	D	0.94522	0.8236	L	0.60067	1.865	0.09310	N	1	B	0.32324	0.364	B	0.27170	0.077	D	0.87133	0.2198	10	0.34782	T	0.22	.	4.7058	0.12849	0.2524:0.0:0.5118:0.2359	.	101	Q96KN9	CXD4_HUMAN	T	101	ENSP00000315070:A101T	ENSP00000315070:A101T	A	+	1	0	0	GJD4	35936748	35936748	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.566000	0.36396	-0.280000	0.09154	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_153368			67	65		293	282	0		1			0	0	39	0		1	0	0	0	0	0	0	67	293
GJD4	219770	broad.mit.edu	37	10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	193					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647																																						ENST00000321660.1	1.000000	0.750000	1	9.800000e-01	0.990000	0.978681	0.990000	1.000000																										0				16						c.(577-579)gaG>gaT		gap junction protein, delta 4, 40.1kDa							30.0	22.0	25.0					10																	35897020		2203	4299	6502	SO:0001583	missense	219770	0	0					g.chr10:35897020G>T	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.579G>T	chr10.hg19:g.35897020G>T	ENSP00000315070:p.Glu193Asp	0					RP11-425A6.5_ENST00000609313.1_RNA	p.E193D	NM_153368.2	NP_699199.2	1	2	3	2.000167	Q96KN9	CXD4_HUMAN		2	737	+			Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	1	1	hg19	c.579G>T	CCDS7191.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870359	0.72065	.	.	ENSG00000177291	ENST00000321660	D	0.99186	-5.53	5.62	0.847	0.18961	5.62	0.847	0.18961	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.96365	3.81	0.47584	D	0.999468	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	.	10.5625	0.45154	0.3987:0.0:0.6013:0.0	.	193	Q96KN9	CXD4_HUMAN	D	193	ENSP00000315070:E193D	ENSP00000315070:E193D	E	+	3	2	2	GJD4	35937026	35937026	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	1.855000	0.39378	0.056000	0.16144	-0.469000	0.05056	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999920	1	0.170000	NM_153368			16	16		136	134	0		1			0	0	25	0		9.999438e-01	0	0	0	0	0	0	16	136
FZD8	8325	broad.mit.edu	37	10	35929026	35929026	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	444					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CAAGCCACGCGGCCAGGTGGA	0.657																																						ENST00000374694.1	1.000000	0.250000	8.400000e-01	3.900000e-01	0.570000	0.607630	0.570000	1.000000																										0				11						c.(1330-1332)gcC>gcT		frizzled class receptor 8							32.0	31.0	31.0					10																	35929026		2202	4300	6502	SO:0001819	synonymous_variant	8325	0	0					g.chr10:35929026G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1332C>T	chr10.hg19:g.35929026G>A		0					MIR4683_ENST00000579659.1_RNA	p.A444A	NM_031866.2	NP_114072.1	1	2	3	2.000167	Q9H461	FZD8_HUMAN		1	1336	-				Silent	SNP	ENST00000374694.1	0	1	hg19	c.1332C>T	CCDS7192.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-10.531580	1	0.170000	NM_031866			7	7		147	143	0		1	0		0	0	29	0		9.795275e-01	6.303977e-01	0	1	0	43	0	7	147
FZD8	8325	broad.mit.edu	37	10	35929686	35929686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	224					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806																																						ENST00000374694.1	1.000000	0.790000	1	9.900000e-01	0.990000	0.985874	0.990000	1.000000																										0				11						c.(670-672)ggC>ggT		frizzled class receptor 8							5.0	6.0	5.0					10																	35929686		1617	3437	5054	SO:0001819	synonymous_variant	8325	0	0					g.chr10:35929686G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.672C>T	chr10.hg19:g.35929686G>A		0					MIR4683_ENST00000579659.1_RNA	p.G224G	NM_031866.2	NP_114072.1	1	2	3	2.000167	Q9H461	FZD8_HUMAN		1	676	-				Silent	SNP	ENST00000374694.1	0	1	hg19	c.672C>T	CCDS7192.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.806	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_031866			12	11		88	81	0		1	0		0	0	12	0		9.988609e-01	0	0	0	0	1	0	12	88
ANKRD30A	91074	broad.mit.edu	37	10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000602533.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						AAACAAAAGGACTATGAAGAA	0.299																																						ENST00000602533.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				158						c.(1510-1512)gAc>gGc		ankyrin repeat domain 30A							122.0	110.0	114.0					10																	37441021		1798	4065	5863	SO:0001583	missense	91074	0	0					g.chr10:37441021A>G	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.1511A>G	chr10.hg19:g.37441021A>G	ENSP00000473551:p.Asp504Gly	0					ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G	p.D504G			1	2	3	2.000167	Q9BXX3	AN30A_HUMAN		12	1610	+			Q5W025	Missense_Mutation	SNP	ENST00000602533.1	1	1	hg19	c.1511A>G		1	.	.	.	.	.	.	.	.	.	.	.	11.34	1.611090	0.28712	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.71	1.71	0.24356	1.71	1.71	0.24356	.	.	.	.	.	T	0.13586	0.0329	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.15636	-1.0430	9	0.49607	T	0.09	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	560	Q9BXX3	AN30A_HUMAN	G	504	ENSP00000354432:D504G;ENSP00000363792:D504G	ENSP00000354432:D504G	D	+	2	0	0	ANKRD30A	37481027	37481027	0.097000	0.21791	0.130000	0.21974	0.004000	0.04260	0.505000	0.22642	1.038000	0.40049	0.315000	0.21342	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_052997			41	41		193	192	1		1			0	0	64	0		1	0	0	0	0	0	0	41	193
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	C	T	rs562184589		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000602533.1	+	28	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_ENST00000374660.1_Silent_p.F943F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	880					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F824F(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						CATCTGCCTTCGAGGTATTTA	0.328													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.0					ENST00000602533.1	1.000000	0.800000	1	9.100000e-01	0.990000	0.969647	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F824F(1)	endometrium(1)	158						c.(2470-2472)ttC>ttT		ankyrin repeat domain 30A							168.0	143.0	150.0					10																	37486234		1802	4078	5880	SO:0001819	synonymous_variant	91074	5	120786	41				g.chr10:37486234C>T	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.2472C>T	chr10.hg19:g.37486234C>T		0					ANKRD30A_ENST00000374660.1_Silent_p.F943F|ANKRD30A_ENST00000361713.1_Silent_p.F824F	p.F824F			1	2	3	2.000167	Q9BXX3	AN30A_HUMAN		28	2571	+			Q5W025	Silent	SNP	ENST00000602533.1	1	1	hg19	c.2472C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-15.792990	1	0.170000	NM_052997			64	62		671	621	0		1			0	0	193	0		1	0	0	0	0	0	0	64	671
ZNF25	219749	broad.mit.edu	37	10	38241882	38241882	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38241882T>G	ENST00000302609.7	-	6	756	c.544A>C	c.(544-546)Ata>Cta	p.I182L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	182					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(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)				TGGTAAAATATTTTCTTACAT	0.353																																						ENST00000302609.7	1.000000	0.090000	2.600000e-01	1.300000e-01	0.180000	0.234610	0.180000	0.170000																										0				28						c.(544-546)Ata>Cta		zinc finger protein 25							147.0	152.0	151.0					10																	38241882		2203	4300	6503	SO:0001583	missense	219749	0	0					g.chr10:38241882T>G	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.544A>C	chr10.hg19:g.38241882T>G	ENSP00000302222:p.Ile182Leu	0					AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	p.I182L	NM_145011.2	NP_659448.1	1	2	3	2.000167	P17030	ZNF25_HUMAN		6	756	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	0	1	hg19	c.544A>C	CCDS7195.1	0	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736628	0.30774	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.14391	2.51	4.84	3.69	0.42338	4.84	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.537430	0.15831	N	0.242506	T	0.05364	0.0142	N	0.02225	-0.63	0.09310	N	0.999999	B	0.17465	0.022	B	0.14023	0.01	T	0.28299	-1.0048	10	0.87932	D	0	-8.0E-4	5.7583	0.18186	0.1691:0.0:0.1763:0.6547	.	182	P17030	ZNF25_HUMAN	L	182;146	ENSP00000302222:I182L	ENSP00000302222:I182L	I	-	1	0	0	ZNF25	38281888	38281888	0.001000	0.12720	0.866000	0.34008	0.960000	0.62799	-0.177000	0.09796	0.960000	0.38005	0.524000	0.50904	ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	0	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-8.377095	1	0.170000	NM_145011, NM_006966			11	11		732	716	0		1	0		0	0	134	0		9.981146e-01	1.277557e-01	0	0	0	38	0	11	732
ZNF33A	7581	broad.mit.edu	37	10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000458705.2	+	5	788	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K211N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358																																						ENST00000458705.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(628-630)aaG>aaT		zinc finger protein 33A							84.0	83.0	84.0					10																	38343685		2203	4300	6503	SO:0001583	missense	7581	0	0					g.chr10:38343685G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.630G>T	chr10.hg19:g.38343685G>T	ENSP00000387713:p.Lys210Asn	0					ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K211N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N	p.K210N			1	2	3	2.000167	Q06730	ZN33A_HUMAN		5	788	+			A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	1	1	hg19	c.630G>T	CCDS31182.1	1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042204	0.35989	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.23;3.23;3.23	2.26	0.11	0.14611	2.26	0.11	0.14611	.	0.000000	0.34133	N	0.004228	T	0.10078	0.0247	L	0.58810	1.83	0.09310	N	1	P;P;B	0.49635	0.86;0.926;0.051	P;P;B	0.47075	0.536;0.454;0.067	T	0.13415	-1.0510	10	0.87932	D	0	.	4.2204	0.10554	0.1641:0.4812:0.3547:0.0	.	217;210;211	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	211;217;210;210	ENSP00000363747:K211N;ENSP00000402467:K217N;ENSP00000387713:K210N;ENSP00000304268:K210N	ENSP00000304268:K210N	K	+	3	2	2	ZNF33A	38383691	38383691	0.000000	0.05858	0.426000	0.26672	0.225000	0.24961	0.698000	0.25571	0.219000	0.20840	0.460000	0.39030	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_006974			63	62		364	356	1		1	1		0	0	80	0		1	9.800782e-01	0	12	0	26	0	63	364
ZNF33A	7581	broad.mit.edu	37	10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000458705.2	+	5	1819	c.1661G>A	c.(1660-1662)tGt>tAt	p.C554Y	ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C555Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428																																						ENST00000458705.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1660-1662)tGt>tAt		zinc finger protein 33A							101.0	103.0	103.0					10																	38344716		2203	4300	6503	SO:0001583	missense	7581	0	0					g.chr10:38344716G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1661G>A	chr10.hg19:g.38344716G>A	ENSP00000387713:p.Cys554Tyr	0					ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C555Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y	p.C554Y			1	2	3	2.000167	Q06730	ZN33A_HUMAN		5	1819	+			A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	1	1	hg19	c.1661G>A	CCDS31182.1	1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624374	0.28889	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.68	1.68	0.24146	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	D	0.91449	0.7301	M	0.87038	2.855	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.933	T	0.82596	-0.0379	10	0.87932	D	0	.	8.8786	0.35360	0.0:0.0:1.0:0.0	.	561;554;555	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	555;561;554;554	ENSP00000363747:C555Y;ENSP00000402467:C561Y;ENSP00000387713:C554Y;ENSP00000304268:C554Y	ENSP00000304268:C554Y	C	+	2	0	0	ZNF33A	38384722	38384722	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	8.253000	0.89842	0.897000	0.36392	0.305000	0.20034	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_006974			135	132		506	497	1		1	1		0	0	117	0		1	9.979118e-01	0	7	0	30	0	135	506
ZNF37A	7587	broad.mit.edu	37	10	38403694	38403694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	9	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453																																						ENST00000361085.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(25-27)tcG>tcA		zinc finger protein 37A							141.0	133.0	135.0					10																	38403694		2203	4300	6503	SO:0001819	synonymous_variant	7587	7	121400	43				g.chr10:38403694G>A	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.27G>A	chr10.hg19:g.38403694G>A		0					ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	p.S9S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	1	2	3	2.000167	P17032	ZN37A_HUMAN		5	372	+			B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	1	1	hg19	c.27G>A	CCDS31183.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000	NM_003421			106	103		450	442	1		1	1		0	0	114	0		1	9.890869e-01	0	5	0	27	0	106	450
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308																																						ENST00000361085.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R86I(2)	large_intestine(2)	28						c.(256-258)aGa>aTa		zinc finger protein 37A							50.0	59.0	56.0					10																	38406336		2197	4281	6478	SO:0001583	missense	7587	0	0					g.chr10:38406336G>T	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.257G>T	chr10.hg19:g.38406336G>T	ENSP00000354377:p.Arg86Ile	0					ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	1	2	3	2.000167	P17032	ZN37A_HUMAN		7	602	+			B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	1	1	hg19	c.257G>T	CCDS31183.1	1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	0	ZNF37A	38446342	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_003421			65	65		313	310	1		1	1		0	0	116	0		1	4.162847e-01	0	2	0	6	0	65	313
ZNF37A	7587	broad.mit.edu	37	10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403																																						ENST00000361085.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1375-1377)aGa>aAa		zinc finger protein 37A							51.0	54.0	53.0					10																	38407455		2203	4298	6501	SO:0001583	missense	7587	0	0					g.chr10:38407455G>A	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.1376G>A	chr10.hg19:g.38407455G>A	ENSP00000354377:p.Arg459Lys	0					ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	1	2	3	2.000167	P17032	ZN37A_HUMAN		7	1721	+			B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	1	1	hg19	c.1376G>A	CCDS31183.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954269	0.53293	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18338	2.22;2.22	2.22	2.22	0.28083	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.39326	1.205	0.25192	N	0.990129	D	0.71674	0.998	D	0.68483	0.958	T	0.05818	-1.0862	9	0.45353	T	0.12	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	459	P17032	ZN37A_HUMAN	K	459	ENSP00000329141:R459K;ENSP00000354377:R459K	ENSP00000329141:R459K	R	+	2	0	0	ZNF37A	38447461	38447461	0.003000	0.15002	0.998000	0.56505	0.984000	0.73092	1.232000	0.32636	1.246000	0.43901	0.591000	0.81541	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.385833	1	0.170000	NM_003421			51	51		242	238	1		1	1		0	0	62	0		1	9.955539e-01	0	7	0	35	0	51	242
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R489I(1)	large_intestine(1)	29						c.(1465-1467)aGa>aTa		zinc finger protein 33B							98.0	92.0	94.0					10																	43088932		2203	4299	6502	SO:0001583	missense	7582	0	0					g.chr10:43088932C>A	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.1466G>T	chr10.hg19:g.43088932C>A	ENSP00000352444:p.Arg489Ile	0					ZNF33B_ENST00000486187.1_RNA	p.R489I	NM_006955.1	NP_008886.1	1	2	3	2.000167	Q06732	ZN33B_HUMAN		5	1580	-			Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	1	1	hg19	c.1466G>T	CCDS7198.1	1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	0	ZNF33B	42408938	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_006955			80	75		342	336	1		1	1		0	0	93	0		1	9.964905e-01	0	16	0	23	0	80	342
BMS1	9790	broad.mit.edu	37	10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	881					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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						GAGGGTTTTCGACCTGGGATG	0.448																																						ENST00000374518.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2641-2643)cGa>cAa		BMS1 ribosome biogenesis factor							124.0	121.0	122.0					10																	43315745		2203	4300	6503	SO:0001583	missense	9790	1	121412	38				g.chr10:43315745G>A	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.2642G>A	chr10.hg19:g.43315745G>A	ENSP00000363642:p.Arg881Gln	0						p.R881Q	NM_014753.3	NP_055568.3	1	2	3	2.000167	Q14692	BMS1_HUMAN		16	2705	+			Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	1	1	hg19	c.2642G>A	CCDS7199.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.201816	0.94997	.	.	ENSG00000165733	ENST00000374518	T	0.17054	2.3	5.05	5.05	0.67936	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35375	-0.9791	10	0.38643	T	0.18	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	881	Q14692	BMS1_HUMAN	Q	881	ENSP00000363642:R881Q	ENSP00000363642:R881Q	R	+	2	0	0	BMS1	42635751	42635751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.609000	0.98334	2.352000	0.79861	0.454000	0.30748	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_014753			144	139		608	574	1		1	1		0	0	116	0		1	1	0	37	0	88	0	144	608
RET	5979	broad.mit.edu	37	10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					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)		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)	CCATGCCCTGCGGGACGCCCC	0.622		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																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	0				607						c.(169-171)Cgg>Tgg		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						72.0	63.0	66.0					10																	43596002		2203	4300	6503	SO:0001583	missense	5979	0	0		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43596002C>T	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.169C>T	chr10.hg19:g.43596002C>T	ENSP00000347942:p.Arg57Trp	0					RET_ENST00000340058.5_Missense_Mutation_p.R57W	p.R57W	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		2	401	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	1	1	hg19	c.169C>T	CCDS7200.1	1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154086	0.38021	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81908	-1.42;-1.55	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.511992	0.21682	N	0.070717	D	0.86619	0.5976	L	0.55481	1.735	0.30522	N	0.768312	D;D	0.89917	0.999;1.0	P;P	0.59288	0.72;0.855	D	0.85478	0.1177	10	0.87932	D	0	.	12.3445	0.55114	0.2805:0.7195:0.0:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	W	57	ENSP00000347942:R57W;ENSP00000344798:R57W	ENSP00000344798:R57W	R	+	1	2	2	RET	42916008	42916008	0.742000	0.28228	0.049000	0.19019	0.003000	0.03518	1.347000	0.33975	2.605000	0.88082	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.161933	1	0.170000	NM_020975			50	50		261	255	1		1			0	0	52	0		1	0	0	0	0	0	0	50	261
RET	5979	broad.mit.edu	37	10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	329					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)		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)	AGCAGACCTTCCGGGTGGAAC	0.647		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																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.850000	1	9.900000e-01	0.990000	0.990513	0.990000	1.000000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	0				607						c.(985-987)ttC>ttA		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						54.0	46.0	49.0					10																	43601943		2202	4300	6502	SO:0001583	missense	5979	0	0		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43601943C>A	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.987C>A	chr10.hg19:g.43601943C>A	ENSP00000347942:p.Phe329Leu	0					RET_ENST00000340058.5_Missense_Mutation_p.F329L	p.F329L	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		5	1219	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	0	1	hg19	c.987C>A	CCDS7200.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593304	0.86953	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80304	-1.25;-1.36	5.32	4.41	0.53225	5.32	4.41	0.53225	.	0.108147	0.64402	D	0.000002	D	0.86422	0.5929	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.986;0.917;0.997	D	0.84611	0.0678	10	0.30854	T	0.27	.	11.9086	0.52727	0.0:0.9158:0.0:0.0842	.	75;329;329	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	329	ENSP00000347942:F329L;ENSP00000344798:F329L	ENSP00000344798:F329L	F	+	3	2	2	RET	42921949	42921949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.325000	0.33724	1.478000	0.48253	0.563000	0.77884	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_020975			18	18		139	137	1		1	0		0	0	23	0		9.999858e-01	1.142242e-01	0	0	0	5	0	18	139
RET	5979	broad.mit.edu	37	10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCACGGTGGCCGTGAAGATG	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.300000	5.500000e-01	3.700000e-01	0.440000	0.482604	0.440000	0.440000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Missense(1)	p.A756V(1)	large_intestine(1)	607						c.(2266-2268)gCc>gAc		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						105.0	111.0	109.0					10																	43612162		2203	4300	6503	SO:0001583	missense	5979	0	0		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43612162C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2267C>A	chr10.hg19:g.43612162C>A	ENSP00000347942:p.Ala756Asp	0					RET_ENST00000340058.5_Missense_Mutation_p.A756D	p.A756D	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		12	2499	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	1	1	hg19	c.2267C>A	CCDS7200.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.153002	0.94645	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95980	-3.87;-3.87	5.65	5.65	0.86999	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94620	3.56	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	0.99253	1.0888	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	756	ENSP00000347942:A756D;ENSP00000344798:A756D	ENSP00000344798:A756D	A	+	2	0	0	RET	42932168	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-3.827908	1	0.170000	NM_020975			31	31		800	791	0		1	0		0	0	165	0		1	0	0	0	0	1	0	31	800
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R770*(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)	GAGTGAGCTGCGAGACCTGCT	0.562		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																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999764	0.990000	1.000000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Nonsense(1)	p.R770*(1)	large_intestine(1)	607						c.(2308-2310)Cga>Tga		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						52.0	49.0	50.0					10																	43613844		2203	4300	6503	SO:0001587	stop_gained	5979	1	121412	24	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43613844C>T	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.2308C>T	chr10.hg19:g.43613844C>T	ENSP00000347942:p.Arg770*	0					RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	p.R770*	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		13	2540	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP	ENST00000355710.3	0	1	hg19	c.2308C>T	CCDS7200.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.586971	0.98875	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.58	3.49	0.39957	5.58	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7699	0.78162	0.3268:0.6732:0.0:0.0	.	.	.	.	X	770	.	ENSP00000344798:R770X	R	+	1	2	2	RET	42933850	42933850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	1.324000	0.45282	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_020975			25	25		144	139	1		1	0		0	0	45	0		9.999999e-01	0	0	0	0	1	0	25	144
RET	5979	broad.mit.edu	37	10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T	rs377767424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in MTC; familial form; dbSNP:rs55947360). {ECO:0000269|PubMed:10826520, ECO:0000269|PubMed:17344846}.		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)		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)	CCCGGATGAGCGGGCCCTCAC	0.647		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																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	0				607	GRCh37	CM066982	RET	M		c.(2530-2532)Cgg>Tgg		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						47.0	43.0	44.0					10																	43615116		2203	4300	6503	SO:0001583	missense	5979	0	0		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43615116C>T	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.2530C>T	chr10.hg19:g.43615116C>T	ENSP00000347942:p.Arg844Trp	0					RET_ENST00000340058.5_Missense_Mutation_p.R844W	p.R844W	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		14	2762	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	1	1	hg19	c.2530C>T	CCDS7200.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889118	0.72524	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83335	-1.71;-1.71	5.36	-0.803	0.10886	5.36	-0.803	0.10886	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	0.88862	0.6552	M	0.69185	2.1	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	0.89496	0.3760	10	0.87932	D	0	.	16.3483	0.83171	0.6157:0.3843:0.0:0.0	.	590;844;844	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	844	ENSP00000347942:R844W;ENSP00000344798:R844W	ENSP00000344798:R844W	R	+	1	2	2	RET	42935122	42935122	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.985000	0.40668	0.186000	0.20125	0.313000	0.20887	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.319077	1	0.170000	NM_020975			43	43		285	278	1		1			0	0	59	0		1	0	0	0	0	0	0	43	285
RET	5979	broad.mit.edu	37	10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1070					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)		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)	CCCGAACTGGCCTGGAGAGAG	0.448		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																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	10q11.2	5979	T, Mis, N, F	ret proto-oncogene	yes	yes	Hirschsprung disease	"""E, O"""	E, O	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	CCDC6/RET(4)|KIF5B/RET(79)	0				607						c.(3208-3210)Cct>Tct		ret proto-oncogene	Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)						164.0	156.0	158.0					10																	43623580		2203	4300	6503	SO:0001583	missense	5979	0	0		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	g.chr10:43623580C>T	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.3208C>T	chr10.hg19:g.43623580C>T	ENSP00000347942:p.Pro1070Ser	0						p.P1070S	NM_020975.4	NP_066124.1	1	2	3	2.000167	P07949	RET_HUMAN		20	3440	+		Ovarian(717;0.0423)	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	1	1	hg19	c.3208C>T	CCDS7200.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844386	0.51164	.	.	ENSG00000165731	ENST00000355710	D	0.93547	-3.24	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.17082	0.46	0.80722	D	1	P	0.44478	0.836	B	0.43754	0.43	D	0.89203	0.3559	10	0.54805	T	0.06	.	12.7379	0.57236	0.0:0.9248:0.0:0.0751	.	1070	P07949	RET_HUMAN	S	1070	ENSP00000347942:P1070S	ENSP00000347942:P1070S	P	+	1	0	0	RET	42943586	42943586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.752000	0.68728	2.593000	0.87608	0.563000	0.77884	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-20.000000	1	0.170000	NM_020975			128	125		657	648	1		1			0	0	208	0		1	0	0	0	0	0	0	128	657
CSGALNACT2	55454	broad.mit.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	rs368373201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					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.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428																																						ENST00000374466.3	1.000000	0.180000	5.700000e-01	2.700000e-01	0.390000	0.438399	0.390000	0.370000																										1	Substitution - Missense(1)	p.R94W(1)	large_intestine(1)	42						c.(280-282)Cgg>Tgg		chondroitin sulfate N-acetylgalactosaminyltransferase 2		A	TRP/ARG	0,4406		0,0,2203	62.0	53.0	56.0		280	5.6	1.0	10		56	1,8599		0,1,4299	no	missense	CSGALNACT2	NM_018590.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/543	43650877	1,13005	2203	4300	6503	SO:0001583	missense	55454	18	121412	40				g.chr10:43650877C>T	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.280C>T	chr10.hg19:g.43650877C>T	ENSP00000363590:p.Arg94Trp	0					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	p.R94W	NM_018590.3	NP_061060.3	1	2	3	2.000167	Q8N6G5	CGAT2_HUMAN		2	615	+			B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	0	1	hg19	c.280C>T	CCDS7201.1	0	.	.	.	.	.	.	.	.	.	.	A	33	5.252355	0.95336	0.0	1.16E-4	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78481	2.39;-1.18	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.122893	0.64402	D	0.000001	D	0.83677	0.5306	L	0.55481	1.735	0.43857	D	0.996457	D;D	0.71674	0.995;0.998	P;P	0.62491	0.865;0.903	D	0.84506	0.0619	10	0.87932	D	0	-12.2648	13.2048	0.59788	0.8669:0.1331:0.0:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	W	94	ENSP00000363590:R94W;ENSP00000363588:R94W	ENSP00000363588:R94W	R	+	1	2	2	CSGALNACT2	42970883	42970883	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	5.736000	0.68597	1.051000	0.40369	-0.264000	0.10439	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	0	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-3.081956	1	0.170000	NM_018590			8	8		248	243	0		1	1		0	0	39	0		9.888172e-01	9.347509e-01	0	4	0	147	0	8	248
CSGALNACT2	55454	broad.mit.edu	37	10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	104					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)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433																																						ENST00000374466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(310-312)gCt>gTt		chondroitin sulfate N-acetylgalactosaminyltransferase 2							73.0	62.0	66.0					10																	43650908		2203	4300	6503	SO:0001583	missense	55454	0	0					g.chr10:43650908C>T	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.311C>T	chr10.hg19:g.43650908C>T	ENSP00000363590:p.Ala104Val	0					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	p.A104V	NM_018590.3	NP_061060.3	1	2	3	2.000167	Q8N6G5	CGAT2_HUMAN		2	646	+			B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	1	1	hg19	c.311C>T	CCDS7201.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236205	0.22626	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15256	2.44;2.44	5.56	2.68	0.31781	5.56	2.68	0.31781	.	0.553571	0.21419	N	0.074849	T	0.06325	0.0163	N	0.03115	-0.41	0.28538	N	0.91226	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33954	-0.9848	10	0.21014	T	0.42	0.0722	6.5965	0.22677	0.0:0.5503:0.2714:0.1783	.	104;104	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	V	104	ENSP00000363590:A104V;ENSP00000363588:A104V	ENSP00000363588:A104V	A	+	2	0	0	CSGALNACT2	42970914	42970914	0.286000	0.24305	0.957000	0.39632	0.985000	0.73830	0.642000	0.24735	0.387000	0.25024	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_018590			48	46		230	226	1		1	1		0	0	46	0		1	1	0	17	0	147	0	48	230
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000395809.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A401T(1)	large_intestine(1)	11						c.(1360-1362)Gcc>Acc		RasGEF domain family, member 1A							131.0	121.0	125.0					10																	43691985		2203	4300	6503	SO:0001583	missense	221002	0	0					g.chr10:43691985C>T	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	chr10.hg19:g.43691985C>T	ENSP00000379154:p.Ala454Thr	0					RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T	p.A454T			1	2	3	2.000167	Q8N9B8	RGF1A_HUMAN		12	3866	-			Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	1	1	hg19	c.1360G>A	CCDS7202.2	1	.	.	.	.	.	.	.	.	.	.	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	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	0	RASGEF1A	43011991	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	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-3.150579	1	0.170000	NM_145313			84	83		431	422	1		1	0		0	0	107	0		1	9.889586e-01	0	1	0	37	0	84	431
RASGEF1A	221002	broad.mit.edu	37	10	43694616	43694616	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Silent_p.R300R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	292	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)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607																																						ENST00000395809.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				11						c.(874-876)cgC>cgT		RasGEF domain family, member 1A							65.0	57.0	59.0					10																	43694616		2203	4300	6503	SO:0001819	synonymous_variant	221002	0	0					g.chr10:43694616G>A	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.876C>T	chr10.hg19:g.43694616G>A		0					RASGEF1A_ENST00000374459.1_Silent_p.R300R|RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000472864.1_5'Flank	p.R292R			1	2	3	2.000167	Q8N9B8	RGF1A_HUMAN		8	3382	-			Q8TBF1	Silent	SNP	ENST00000395809.1	1	1	hg19	c.876C>T	CCDS7202.2	1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435865	0.25813	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.45	-2.48	0.06423	5.45	-2.48	0.06423	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	.	3.3471	0.07139	0.0784:0.2701:0.2189:0.4325	.	.	.	.	Y	194	.	.	H	-	1	0	0	RASGEF1A	43014622	43014622	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.945000	0.40273	-0.255000	0.09486	-0.176000	0.13171	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_145313			25	25		90	89	1		1	1		0	0	17	0		9.999999e-01	9.951059e-01	0	24	0	10	0	25	90
HNRNPF	3185	broad.mit.edu	37	10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000544000.1	-	4	1306	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522																																						ENST00000544000.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(898-900)gCg>gTg		heterogeneous nuclear ribonucleoprotein F							61.0	51.0	54.0					10																	43882434		2203	4300	6503	SO:0001583	missense	3185	2	121412	32				g.chr10:43882434G>A		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.899C>T	chr10.hg19:g.43882434G>A	ENSP00000438061:p.Ala300Val	0					HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V	p.A300V	NM_001098207.1	NP_001091677.1	1	2	3	2.000167	P52597	HNRPF_HUMAN		4	1306	-			B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	1	1	hg19	c.899C>T	CCDS7204.1	1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016128	0.54468	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	4.38	3.48	0.39840	4.38	3.48	0.39840	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00766	-1.1575	10	0.41790	T	0.15	-29.7746	10.982	0.47499	0.0928:0.0:0.9072:0.0	.	300	P52597	HNRPF_HUMAN	V	300;300;300;300;300;223	ENSP00000438061:A300V;ENSP00000400433:A300V;ENSP00000348345:A300V;ENSP00000349573:A300V;ENSP00000338477:A300V	ENSP00000338477:A300V	A	-	2	0	0	HNRNPF	43202440	43202440	1.000000	0.71417	0.837000	0.33122	0.698000	0.40448	8.811000	0.91954	1.446000	0.47643	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				59	59		265	259	1		1	1		0	0	54	0		1	1	0	339	0	800	0	59	265
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A	rs566452971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0					ENST00000544000.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58.0	51.0	53.0					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185	4	121412	34				g.chr10:43882502G>A		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.831C>T	chr10.hg19:g.43882502G>A		0					HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G	p.G277G	NM_001098207.1	NP_001091677.1	1	2	3	2.000167	P52597	HNRPF_HUMAN		4	1238	-			B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	1	1	hg19	c.831C>T	CCDS7204.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2	1	0	0		2	2	2	0		0	0	44		44	43	1	2.060000	-3.507612	1	0.170000				40	38		173	171	1		1	1		0	0	44	0		1	1	0	371	0	755	0	40	173
ZNF239	8187	broad.mit.edu	37	10	44052679	44052679	+	Silent	SNP	G	G	A	rs534077175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000535642.1_Silent_p.A283A|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000426961.1_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	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)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTATGGACGGCATGATGGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22516	0.0		0.0	False		,,,				2504	0.0					ENST00000306006.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(847-849)gcC>gcT		zinc finger protein 239							145.0	148.0	147.0					10																	44052679		2172	4287	6459	SO:0001819	synonymous_variant	8187	1	121282	40				g.chr10:44052679G>A	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.849C>T	chr10.hg19:g.44052679G>A		0					ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	p.A283A	NM_005674.2	NP_005665.2	1	2	3	2.000167	Q16600	ZN239_HUMAN		2	1501	-			Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	1	0	hg19	c.849C>T	CCDS41502.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-2.832331	1	0.170000				139	137		621	608	1		1	1		0	0	147	0		1	8.855131e-01	0	4	0	15	0	139	621
ZNF239	8187	broad.mit.edu	37	10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	142					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)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448																																						ENST00000306006.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(424-426)caG>caT		zinc finger protein 239							105.0	96.0	99.0					10																	44053102		1893	4117	6010	SO:0001583	missense	8187	0	0					g.chr10:44053102C>A	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.426G>T	chr10.hg19:g.44053102C>A	ENSP00000307774:p.Gln142His	0					ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	p.Q142H	NM_005674.2	NP_005665.2	1	2	3	2.000167	Q16600	ZN239_HUMAN		2	1078	-			Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	1	1	hg19	c.426G>T	CCDS41502.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726442	0.48833	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.1	-1.44	0.08856	4.1	-1.44	0.08856	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40572	-0.9556	9	0.72032	D	0.01	-18.9363	4.2722	0.10792	0.0:0.3819:0.1717:0.4463	.	142	Q16600	ZN239_HUMAN	H	142	ENSP00000307774:Q142H;ENSP00000363569:Q142H;ENSP00000398202:Q142H;ENSP00000443907:Q142H	ENSP00000307774:Q142H	Q	-	3	2	2	ZNF239	43373108	43373108	.	.	0.003000	0.11579	0.652000	0.38707	.	.	-0.263000	0.09378	-0.136000	0.14681	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	1	0	1		18	2	2	0		0	1	82		82	82	1	2.060000	-20.000000	1	0.170000				62	61		373	367	1		1	1		0	0	82	1		9.999999e-01	3.784826e-01	0	2	0	7	0	62	373
ZNF239	8187	broad.mit.edu	37	10	44053455	44053455	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053455G>A	ENST00000306006.6	-	2	725	c.73C>T	c.(73-75)Cta>Tta	p.L25L	ZNF239_ENST00000535642.1_Silent_p.L25L|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000426961.1_Silent_p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	25					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)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAATATCTAGTTCAGGCTCC	0.458																																						ENST00000306006.6	1.000000	0.150000	5.400000e-01	2.400000e-01	0.360000	0.407945	0.360000	0.330000																										0				20						c.(73-75)Cta>Tta		zinc finger protein 239							74.0	69.0	71.0					10																	44053455		1927	4103	6030	SO:0001819	synonymous_variant	8187	0	0					g.chr10:44053455G>A	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.73C>T	chr10.hg19:g.44053455G>A		0					ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	p.L25L	NM_005674.2	NP_005665.2	1	2	3	2.000167	Q16600	ZN239_HUMAN		2	725	-			Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	0	1	hg19	c.73C>T	CCDS41502.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-8.464765	1	0.170000				7	7		240	235	0		1	0		0	0	73	0		9.795890e-01	1.559442e-02	0	1	0	5	0	7	240
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393																																						ENST00000361807.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(700-702)aGa>aTa		zinc finger protein 485							53.0	58.0	56.0					10																	44112192		2203	4300	6503	SO:0001583	missense	220992	0	0					g.chr10:44112192G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	chr10.hg19:g.44112192G>T	ENSP00000354694:p.Arg234Ile	0					ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	p.R234I	NM_145312.3	NP_660355.2	1	2	3	2.000167	Q8NCK3	ZN485_HUMAN		5	895	+			B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	1	1	hg19	c.701G>T	CCDS7205.2	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	0	ZNF485	43432198	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_145312			64	64		262	259	1		1	1		0	0	67	0		1	7.148195e-01	0	3	0	9	0	64	262
ZNF32	7580	broad.mit.edu	37	10	44139542	44139542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	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)			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)		TGCACAGCCAGACTCCCTCTC	0.498																																						ENST00000395797.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(778-780)Ctg>Ttg		zinc finger protein 32							48.0	50.0	49.0					10																	44139542		2203	4300	6503	SO:0001819	synonymous_variant	7580	0	0					g.chr10:44139542G>A	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.778C>T	chr10.hg19:g.44139542G>A		0					ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	p.L260L	NM_001005368.1	NP_001005368.1	1	2	3	2.000167	P17041	ZNF32_HUMAN		3	966	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	Q92951	Silent	SNP	ENST00000395797.1	1	1	hg19	c.778C>T	CCDS7206.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006973			41	41		163	161	1		1	1		0	0	43	0		1	1	0	57	0	147	0	41	163
ZNF32	7580	broad.mit.edu	37	10	44139576	44139576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)		TTCCACACTGGCCGCACAGAT	0.537																																						ENST00000395797.1	1.000000	0.160000	5.600000e-01	2.500000e-01	0.380000	0.425400	0.380000	0.350000																										0				14						c.(742-744)ggC>ggT		zinc finger protein 32							60.0	62.0	61.0					10																	44139576		2203	4300	6503	SO:0001819	synonymous_variant	7580	0	0					g.chr10:44139576G>A	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.744C>T	chr10.hg19:g.44139576G>A		0					ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	p.G248G	NM_001005368.1	NP_001005368.1	1	2	3	2.000167	P17041	ZNF32_HUMAN		3	932	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	Q92951	Silent	SNP	ENST00000395797.1	1	1	hg19	c.744C>T	CCDS7206.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	0	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-8.496698	1	0.170000	NM_006973			7	7		228	227	0		1	1		0	0	52	0		9.807734e-01	9.452631e-01	0	14	0	155	0	7	228
ZNF32	7580	broad.mit.edu	37	10	44141643	44141643	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44141643C>A	ENST00000395797.1	-	0	127				ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 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)			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)		TGGGCTGTTCCTGAGCACCTG	0.438																																						ENST00000395797.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999148	0.990000	1.000000																										0				14								zinc finger protein 32							89.0	71.0	76.0					10																	44141643		692	1591	2283			7580	0	0					g.chr10:44141643C>A	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		chr10.hg19:g.44141643C>A		0					ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR		NM_001005368.1	NP_001005368.1	1	2	3	2.000167	P17041	ZNF32_HUMAN		0	127	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	Q92951	Translation_Start_Site	SNP	ENST00000395797.1	0	1	hg19		CCDS7206.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_006973			15	15		76	74	0		1	1		0	0	24	0		9.999052e-01	9.991906e-01	0	21	0	45	0	15	76
OR13A1	79290	broad.mit.edu	37	10	45799016	45799016	+	Silent	SNP	G	G	A	rs189836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000374401.2_Silent_p.S285S|OR13A1_ENST00000536058.1_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(853-855)agC>agT		olfactory receptor, family 13, subfamily A, member 1		C		1,4405		0,1,2202	70.0	65.0	67.0		855	-2.4	0.0	10		67	0,8600		0,0,4300	no	coding-synonymous	OR13A1	NM_001004297.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		285/329	45799016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79290	12	121412	40				g.chr10:45799016G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.855C>T	chr10.hg19:g.45799016G>A		0					OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	p.S285S	NM_001004297.2	NP_001004297.2	1	2	3	2.000167	Q8NGR1	O13A1_HUMAN		4	1163	-			Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	1	1	hg19	c.855C>T	CCDS31188.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-3.154012	1	0.170000	NM_001004297			52	51		279	275	1		1			0	0	57	0		1	0	0	0	0	0	0	52	279
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(547-549)cGc>cAc		olfactory receptor, family 13, subfamily A, member 1		C	HIS/ARG	49,4357	48.9+/-83.8	0,49,2154	48.0	50.0	50.0		548	1.9	0.0	10	dbSNP_132	50	0,8596		0,0,4298	yes	missense	OR13A1	NM_001004297.2	29	0,49,6452	TT,TC,CC		0.0,1.1121,0.3769	possibly-damaging	183/329	45799323	49,12953	2203	4298	6501	SO:0001583	missense	79290	138	121394	52				g.chr10:45799323C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.548G>A	chr10.hg19:g.45799323C>T	ENSP00000451950:p.Arg183His	0					OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	p.R183H	NM_001004297.2	NP_001004297.2	1	2	3	2.000167	Q8NGR1	O13A1_HUMAN		4	856	-			Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	1	1	hg19	c.548G>A	CCDS31188.1	1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	10.85	1.467132	0.26335	0.011121	0.0	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00169	8.63;8.63;8.63	5.78	1.91	0.25777	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00109	0.0003	L	0.45137	1.4	0.09310	N	1	B	0.28820	0.224	B	0.30782	0.12	T	0.36744	-0.9735	10	0.59425	D	0.04	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	H	183	ENSP00000451950:R183H;ENSP00000438657:R183H;ENSP00000363522:R183H	ENSP00000311379:R183H	R	-	2	0	0	OR13A1	45119329	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-2.853788	1	0.170000	NM_001004297			77	76		307	304	1		1			0	0	65	0		1	0	0	0	0	0	0	77	307
ALOX5	240	broad.mit.edu	37	10	45939272	45939272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45939272G>A	ENST00000374391.2	+	12	1723	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	557	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GTCAACTTCGGCCAGGTAGGC	0.697																																						ENST00000374391.2	1.000000	0.440000	1	6.800000e-01	0.990000	0.884093	0.990000	1.000000																										0				37						c.(1669-1671)gGc>gAc		arachidonate 5-lipoxygenase	Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)						24.0	23.0	23.0					10																	45939272		2201	4298	6499	SO:0001583	missense	240	0	0					g.chr10:45939272G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1670G>A	chr10.hg19:g.45939272G>A	ENSP00000363512:p.Gly557Asp	0					ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D|RP11-67C2.2_ENST00000435635.1_RNA	p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	1	2	3	2.000167	P09917	LOX5_HUMAN		12	1723	+		Lung SC(717;0.0257)	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	0	1	hg19	c.1670G>A	CCDS7212.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.408430	0.96051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90324	-2.65;-2.65	5.23	5.23	0.72850	5.23	5.23	0.72850	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	H	0.94964	3.605	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	D	0.97434	1.0017	10	0.87932	D	0	-35.575	16.3342	0.83052	0.0:0.0:1.0:0.0	.	557;525;557	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	D	557	ENSP00000437634:G557D;ENSP00000363512:G557D	ENSP00000363512:G557D	G	+	2	0	0	ALOX5	45259278	45259278	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.652000	0.98499	2.723000	0.93209	0.650000	0.86243	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1	0	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-11.441610	1	0.170000				6	6		66	65	0		1	1		0	0	12	0		9.656770e-01	9.999900e-01	0	63	0	346	0	6	66
FAM21C	253725	broad.mit.edu	37	10	46264949	46264949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	ENST00000336378.4	+	20	2034	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	639					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGCAGGTCTAAAGGAGAA	0.463																																						ENST00000336378.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1915-1917)tCt>tTt		family with sequence similarity 21, member C							7.0	7.0	7.0					10																	46264949		1433	3432	4865	SO:0001583	missense	253725	1	117944	17				g.chr10:46264949C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1916C>T	chr10.hg19:g.46264949C>T	ENSP00000337541:p.Ser639Phe	0					FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F	p.S639F	NM_015262.2	NP_056077.2	1	2	3	2.000167	Q9Y4E1	FA21C_HUMAN		20	2034	+			B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	0	1	hg19	c.1916C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252178	0.22880	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	2.27	0.28462	3.29	2.27	0.28462	.	0.613015	0.16911	N	0.194482	T	0.60495	0.2273	M	0.72479	2.2	0.34743	D	0.730933	D;P;P;D	0.60575	0.988;0.933;0.933;0.988	P;P;P;P	0.56700	0.804;0.474;0.474;0.714	T	0.70103	-0.4964	9	0.56958	D	0.05	-3.7327	7.059	0.25115	0.2697:0.7303:0.0:0.0	.	617;641;639;584	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	639;641;617;641;641;583;553	.	ENSP00000337541:S639F	S	+	2	0	0	FAM21C	45584955	45584955	0.337000	0.24766	0.471000	0.27229	0.212000	0.24457	1.209000	0.32357	1.836000	0.53414	0.549000	0.68633	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	67		67	91	1	2.060000	-20.000000	1	0.170000				61	9		243	30	0		1	1		0	0	67	0		9.975421e-01	9.999281e-01	0	11	0	48	0	61	243
AGAP4	119016	broad.mit.edu	37	10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577																																						ENST00000448048.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				3						c.(1327-1329)Gcc>Acc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							19.0	18.0	18.0					10																	46322028		1954	3781	5735	SO:0001583	missense	119016	0	0					g.chr10:46322028C>T	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1327G>A	chr10.hg19:g.46322028C>T	ENSP00000392513:p.Ala443Thr	0					AGAP4_ENST00000430779.2_5'Flank	p.A443T	NM_133446.2	NP_597703.2	1	2	3	2.000167	Q96P64	AGAP4_HUMAN		7	1452	-				Missense_Mutation	SNP	ENST00000448048.2	1	1	hg19	c.1327G>A	CCDS7215.1	1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575236	0.45902	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.44482	0.92	.	.	.	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.54319	0.1851	M	0.69463	2.115	0.41499	D	0.988276	D;P;D	0.76494	0.999;0.588;0.999	D;P;D	0.91635	0.998;0.573;0.999	T	0.50320	-0.8842	9	0.51188	T	0.08	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	T	443;219	ENSP00000392513:A443T	ENSP00000343438:A219T	A	-	1	0	0	AGAP4	45642034	45642034	1.000000	0.71417	0.031000	0.17742	0.032000	0.12392	5.212000	0.65225	0.107000	0.17824	0.109000	0.15622	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	0	0	1		2	2	2	0		0	0	180		180	218	1	2.060000	-20.000000	1	0.170000	NM_133446			99	14		771	50	1		1	0		0	0	180	0		9.952216e-01	1.041458e-01	0	0	0	5	0	99	771
SYT15	83849	broad.mit.edu	37	10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374321.4	-	8	1197	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SYT15_ENST00000374325.3_Intron|SYT15_ENST00000374323.4_Missense_Mutation_p.Q430H|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	377	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374321.4			0	0																														0				13						c.(1129-1131)caG>caT		synaptotagmin XV							36.0	44.0	41.0					10																	46962105		2120	4239	6359	SO:0001583	missense	83849	0	0					g.chr10:46962105C>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1131G>T	chr10.hg19:g.46962105C>A	ENSP00000363441:p.Gln377His						SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Missense_Mutation_p.Q430H|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA	p.Q377H	NM_031912.4	NP_114118.2					Q9BQS2	SYT15_HUMAN		8	1197	-			A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	1	1	hg19	c.1131G>T	CCDS44376.1		.	.	.	.	.	.	.	.	.	.	.	12.67	2.007040	0.35415	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.70282	-0.47;-0.47	4.71	-3.63	0.04529	4.71	-3.63	0.04529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.702880	0.02769	N	0.119530	T	0.37758	0.1015	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.44086	T	0.13	.	1.9877	0.03439	0.2809:0.2539:0.3579:0.1073	.	377	Q9BQS2	SYT15_HUMAN	H	216;430;377	ENSP00000363443:Q430H;ENSP00000363441:Q377H	ENSP00000363441:Q377H	Q	-	3	2	2	SYT15	46382111	46382111	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	-0.361000	0.07612	-0.937000	0.03719	-0.448000	0.05591	CAG			TCGA-IB-7651-01A-11D-2154-08	0.652	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-19.916470	1	0.170000	NM_031912			17	18		242	240	0		1	0		0	0	50	0		9.999689e-01	0	0	0	0	1	0	17	242
GPRIN2	9721	broad.mit.edu	37	10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374317.1	+	3	397	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701																																						ENST00000374317.1	1.000000	0.790000	1	9.300000e-01	0.990000	0.974683	0.990000	1.000000																										0				18						c.(124-126)Act>Cct		G protein regulated inducer of neurite outgrowth 2							33.0	42.0	39.0					10																	46999004		2201	4299	6500	SO:0001583	missense	9721	0	0					g.chr10:46999004A>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.124A>C	chr10.hg19:g.46999004A>C	ENSP00000363436:p.Thr42Pro	1					GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	p.T42P	NM_014696.3	NP_055511.2	0	3	3	1.860892	O60269	GRIN2_HUMAN		3	397	+			Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	1	1	hg19	c.124A>C	CCDS31192.1	1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719055	0.48622	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03689	3.84;3.84	5.44	4.31	0.51392	5.44	4.31	0.51392	.	0.509005	0.18304	N	0.145333	T	0.02342	0.0072	N	0.14661	0.345	0.21802	N	0.99954	P	0.34977	0.478	B	0.26416	0.069	T	0.45512	-0.9256	10	0.66056	D	0.02	-3.7877	8.1206	0.30969	0.9086:0.0:0.0914:0.0	.	42	O60269	GRIN2_HUMAN	P	42	ENSP00000363436:T42P;ENSP00000363433:T42P	ENSP00000363433:T42P	T	+	1	0	0	GPRIN2	46419010	46419010	1.000000	0.71417	0.885000	0.34714	0.783000	0.44284	6.867000	0.75511	1.026000	0.39733	0.533000	0.62120	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_014696			43	40		465	461	0		1	0		0	0	76	0		1	7.335407e-01	0	1	0	29	0	43	465
GPRIN2	9721	broad.mit.edu	37	10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374317.1	+	3	624	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	117										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCTGCTATGCAGAGGAGCC	0.647																																						ENST00000374317.1	1.000000	0.630000	1	8.100000e-01	0.990000	0.932810	0.990000	1.000000																										0				18						c.(349-351)atG>atA		G protein regulated inducer of neurite outgrowth 2							37.0	30.0	33.0					10																	46999231		2203	4296	6499	SO:0001583	missense	9721	0	0					g.chr10:46999231G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.351G>A	chr10.hg19:g.46999231G>A	ENSP00000363436:p.Met117Ile	1					GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	p.M117I	NM_014696.3	NP_055511.2	0	3	3	1.860892	O60269	GRIN2_HUMAN		3	624	+			Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	1	1	hg19	c.351G>A	CCDS31192.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496194	0.26861	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03065	4.06;4.06	5.64	2.72	0.32119	5.64	2.72	0.32119	.	1.004860	0.08019	N	0.991607	T	0.03739	0.0106	L	0.40543	1.245	0.26608	N	0.972885	B	0.10296	0.003	B	0.04013	0.001	T	0.48937	-0.8990	10	0.18710	T	0.47	-2.2012	5.2223	0.15375	0.1712:0.0:0.6646:0.1642	.	117	O60269	GRIN2_HUMAN	I	117	ENSP00000363436:M117I;ENSP00000363433:M117I	ENSP00000363433:M117I	M	+	3	0	0	GPRIN2	46419237	46419237	0.986000	0.35501	0.797000	0.32132	0.399000	0.30720	0.575000	0.23729	0.395000	0.25257	0.650000	0.86243	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-19.999230	1	0.170000	NM_014696			17	16		195	192	1		1	1		0	0	36	0		9.999665e-01	7.826955e-01	0	16	0	19	0	17	195
GPRIN2	9721	broad.mit.edu	37	10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374317.1	+	3	719	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642																																						ENST00000374317.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996686	0.990000	1.000000																										0				18						c.(445-447)aGc>aAc		G protein regulated inducer of neurite outgrowth 2							38.0	32.0	34.0					10																	46999326		2203	4300	6503	SO:0001583	missense	9721	0	0					g.chr10:46999326G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.446G>A	chr10.hg19:g.46999326G>A	ENSP00000363436:p.Ser149Asn	1					GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	p.S149N	NM_014696.3	NP_055511.2	0	3	3	1.860892	O60269	GRIN2_HUMAN		3	719	+			Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	1	1	hg19	c.446G>A	CCDS31192.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108281	0.37242	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04234	3.67;3.67	5.41	2.53	0.30540	5.41	2.53	0.30540	.	0.875658	0.09507	N	0.792806	T	0.12774	0.0310	M	0.65975	2.015	0.18873	N	0.999989	D	0.61080	0.989	P	0.58266	0.836	T	0.21861	-1.0233	10	0.33940	T	0.23	-2.5873	5.3762	0.16166	0.0:0.6485:0.1713:0.1803	.	149	O60269	GRIN2_HUMAN	N	149	ENSP00000363436:S149N;ENSP00000363433:S149N	ENSP00000363433:S149N	S	+	2	0	0	GPRIN2	46419332	46419332	0.007000	0.16637	0.068000	0.19968	0.665000	0.39181	0.497000	0.22514	0.785000	0.33685	-0.153000	0.13522	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_014696			22	22		172	169	1		1	0		0	0	38	0		9.999990e-01	8.239175e-01	0	1	0	26	0	22	172
GPRIN2	9721	broad.mit.edu	37	10	46999982	46999982	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999982C>A	ENST00000374317.1	+	3	1375	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368								p.L368V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGAGGTAACTCTGGGGTCCAG	0.667																																						ENST00000374317.1	0.540000	0.200000	4.500000e-01	2.700000e-01	0.350000	0.363921	0.350000	0.340000																										1	Substitution - Missense(1)	p.L368V(1)	lung(1)	18						c.(1102-1104)Ctg>Atg		G protein regulated inducer of neurite outgrowth 2							133.0	119.0	124.0					10																	46999982		2203	4300	6503	SO:0001583	missense	9721	0	0					g.chr10:46999982C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1102C>A	chr10.hg19:g.46999982C>A	ENSP00000363436:p.Leu368Met	1					GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368M	p.L368M	NM_014696.3	NP_055511.2	0	3	3	1.860892	O60269	GRIN2_HUMAN		3	1375	+			Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	0	1	hg19	c.1102C>A	CCDS31192.1	0	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029659	0.19512	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.25749	1.78;1.78	4.85	1.91	0.25777	4.85	1.91	0.25777	.	0.253457	0.20905	N	0.083570	T	0.41305	0.1153	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.10567	-1.0624	10	0.62326	D	0.03	-5.6541	5.7221	0.17992	0.0:0.6451:0.1653:0.1896	.	368	O60269	GRIN2_HUMAN	M	368	ENSP00000363436:L368M;ENSP00000363433:L368M	ENSP00000363433:L368M	L	+	1	2	2	GPRIN2	46419988	46419988	0.010000	0.17322	0.088000	0.20740	0.019000	0.09904	0.134000	0.15932	0.583000	0.29574	-0.676000	0.03789	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	0	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-2.902836	1	0.170000	NM_014696			16	16		575	568	0		1	0		0	0	110	0		9.999270e-01	1.135216e-01	0	0	0	20	0	16	575
ANXA8L1	728113	broad.mit.edu	37	10	47756730	47756730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	ENST00000374277.5	+	8	766	c.644G>A	c.(643-645)aGa>aAa	p.R215K	ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						CACCTGCTGAGAGGTACCAGG	0.587																																						ENST00000374277.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(643-645)aGa>aAa									7.0	5.0	6.0					10																	47756730		1537	2833	4370	SO:0001583	missense	0	0	0					g.chr10:47756730G>A																												ENST00000374277.5:c.644G>A	chr10.hg19:g.47756730G>A	ENSP00000363395:p.Arg215Lys	1					ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR	p.R215K	NM_001630.2	NP_001621.2	0	3	3	1.860892				8	766	+				Missense_Mutation	SNP	ENST00000374277.5	1	1	hg19	c.644G>A	CCDS7216.1	1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343474	0.01277	.	.	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.03094	4.05;4.05;4.05	1.76	1.76	0.24704	1.76	1.76	0.24704	Annexin repeat, conserved site (1);	0.092566	0.47455	D	0.000227	T	0.01489	0.0048	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.25351	0.007;0.124;0.0	B;B;B	0.24269	0.01;0.052;0.007	T	0.45600	-0.9250	10	0.02654	T	1	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	158;196;215	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	K	196;215;153	ENSP00000339264:R196K;ENSP00000363395:R215K;ENSP00000440742:R153K	ENSP00000339264:R196K	R	+	2	0	0	ANXA8L2	47226736	47226736	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.312000	0.19397	1.340000	0.45581	0.274000	0.19336	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047866.1	0	0	1		2	2	2	0		0	0	53		53	73	1	2.060000	-20.000000	1	0.170000				60	20		225	74	0		1			0	0	53	0		9.999999e-01	0	0	0	0	0	0	60	225
ZNF488	118738	broad.mit.edu	37	10	48371057	48371057	+	Silent	SNP	G	G	A	rs369021822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.E68E			Q96MN9	ZN488_HUMAN	zinc finger protein 488	175					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567																																						ENST00000395702.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(523-525)gaG>gaA		zinc finger protein 488							77.0	76.0	76.0					10																	48371057		2203	4300	6503	SO:0001819	synonymous_variant	118738	0	0					g.chr10:48371057G>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.525G>A	chr10.hg19:g.48371057G>A		0					ZNF488_ENST00000586537.1_Silent_p.E68E|ZNF488_ENST00000494156.1_3'UTR	p.E175E			0	1	1	1.978128	Q96MN9	ZN488_HUMAN		2	752	+			Q05CE0	Silent	SNP	ENST00000395702.2	1	1	hg19	c.525G>A	CCDS7217.1	1																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_153034			79	79		319	314	1		1	1		0	0	107	0		1	2.632246e-01	0	4	0	1	0	79	319
RBP3	5949	broad.mit.edu	37	10	48389870	48389870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	336	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)			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)	AGTCCTTCAGGACCTCCTGGA	0.642																																						ENST00000224600.4	0.880000	0.320000	7.300000e-01	4.300000e-01	0.560000	0.585311	0.560000	0.550000																										0				59						c.(1006-1008)gtC>gtA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						39.0	38.0	38.0					10																	48389870		2203	4300	6503	SO:0001819	synonymous_variant	5949	0	0					g.chr10:48389870G>T	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.1008C>A	chr10.hg19:g.48389870G>T		0					AL731561.2_ENST00000581861.1_RNA	p.V336V	NM_002900.2	NP_002891.1	0	1	1	1.978128	P10745	RET3_HUMAN		1	1121	-			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	1	1	hg19	c.1008C>A	CCDS7218.1	0																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	0	1		18	2	2	1		1	1	51		51	51	1	2.060000	-16.096490	1	0.170000	NM_002900			14	14		278	277	0		0			1	0	51	0		2.861783e-01	0	0	0	0	0	0	14	278
RBP3	5949	broad.mit.edu	37	10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	140	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)			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)	ACCTCCTGGCCCGGGACGCTG	0.637													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0					ENST00000224600.4	0.630000	0.280000	5.400000e-01	3.500000e-01	0.430000	0.450758	0.430000	0.430000																										0				59						c.(418-420)Ggc>Agc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	SER/GLY	16,4390	23.3+/-48.9	0,16,2187	68.0	75.0	73.0		418	1.6	0.0	10	dbSNP_126	73	0,8600		0,0,4300	yes	missense	RBP3	NM_002900.2	56	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	possibly-damaging	140/1248	48390460	16,12990	2203	4300	6503	SO:0001583	missense	5949	50	121412	49				g.chr10:48390460C>T	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.418G>A	chr10.hg19:g.48390460C>T	ENSP00000224600:p.Gly140Ser	0					AL731561.2_ENST00000581861.1_RNA	p.G140S	NM_002900.2	NP_002891.1	0	1	1	1.978128	P10745	RET3_HUMAN		1	531	-			Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	1	1	hg19	c.418G>A	CCDS7218.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.52	2.262480	0.39995	0.003631	0.0	ENSG00000107618	ENST00000224600	T	0.63096	-0.02	5.7	1.6	0.23607	5.7	1.6	0.23607	Interphotoreceptor retinol-binding (2);	0.295374	0.42294	N	0.000726	T	0.68805	0.3041	L	0.46157	1.445	0.37162	D	0.902659	D	0.71674	0.998	D	0.76575	0.988	T	0.69518	-0.5124	10	0.56958	D	0.05	-14.0283	9.285	0.37751	0.0:0.6973:0.0:0.3027	rs34932849	140	P10745	RET3_HUMAN	S	140	ENSP00000224600:G140S	ENSP00000224600:G140S	G	-	1	0	0	RBP3	48010466	48010466	0.213000	0.23551	0.010000	0.14722	0.012000	0.07955	1.170000	0.31883	0.030000	0.15379	0.650000	0.86243	GGC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-4.239192	1	0.170000	NM_002900			23	22		592	580	0		1			0	0	99	0		9.999992e-01	0	0	0	0	0	0	23	592
GDF2	2658	broad.mit.edu	37	10	48413908	48413908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	320					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)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612																																						ENST00000249598.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(958-960)agC>agT		growth differentiation factor 2							50.0	52.0	51.0					10																	48413908		2203	4300	6503	SO:0001819	synonymous_variant	2658	3	121410	36				g.chr10:48413908G>A	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.960C>T	chr10.hg19:g.48413908G>A		0						p.S320S	NM_016204.1	NP_057288.1	0	1	1	1.978128	Q9UK05	GDF2_HUMAN		2	1119	-			Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	1	1	hg19	c.960C>T	CCDS7219.1	1																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_016204			78	78		373	363	1		1			0	0	82	0		1	0	0	0	0	0	0	78	373
GDF10	2662	broad.mit.edu	37	10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	366					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTTCCTCCGGGCTTTCTGC	0.597																																						ENST00000224605.2	0.560000	0.170000	4.500000e-01	2.400000e-01	0.330000	0.351014	0.330000	0.330000																										0				31						c.(1096-1098)Cgg>Tgg		growth differentiation factor 10							95.0	81.0	86.0					10																	48428790		2203	4300	6503	SO:0001583	missense	2662	0	0					g.chr10:48428790G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1096C>T	chr10.hg19:g.48428790G>A	ENSP00000224605:p.Arg366Trp	0						p.R366W	NM_004962.3	NP_004953.1	0	1	1	1.978128	P55107	BMP3B_HUMAN		2	1361	-			Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	1	1	hg19	c.1096C>T	CCDS7220.1	0	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288797	0.59976	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.79653	-1.29	5.43	1.11	0.20524	5.43	1.11	0.20524	Transforming growth factor-beta, C-terminal (1);	0.050803	0.64402	D	0.000001	D	0.86443	0.5934	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83990	0.0337	10	0.87932	D	0	.	6.3463	0.21351	0.144:0.0:0.5155:0.3405	.	176;366	Q8N6T2;P55107	.;BMP3B_HUMAN	W	176;366	ENSP00000224605:R366W	ENSP00000224605:R366W	R	-	1	2	2	GDF10	48048796	48048796	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	2.333000	0.43912	0.332000	0.23536	0.655000	0.94253	CGG	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.780192	1	0.170000	NM_004962			10	10		349	341	0		1	0		0	0	56	0		9.966156e-01	2.957909e-03	0	0	0	3	0	10	349
GDF10	2662	broad.mit.edu	37	10	48429256	48429256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	210					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726																																						ENST00000224605.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(628-630)gtC>gtT		growth differentiation factor 10							9.0	14.0	12.0					10																	48429256		2144	4237	6381	SO:0001819	synonymous_variant	2662	0	0					g.chr10:48429256G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.630C>T	chr10.hg19:g.48429256G>A		0						p.V210V	NM_004962.3	NP_004953.1	0	1	1	1.978128	P55107	BMP3B_HUMAN		2	895	-			Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	1	1	hg19	c.630C>T	CCDS7220.1	1																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_004962			45	45		158	156	0		1			0	0	23	0		1	0	0	0	0	0	0	45	158
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					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.A1185T(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)		TCTTTGTCAGCTGAGAGTTCA	0.458																																						ENST00000374201.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A1185T(1)	lung(1)	66						c.(3553-3555)Gct>Tct		FERM and PDZ domain containing 2							104.0	112.0	109.0					10																	49371699		2189	4297	6486	SO:0001583	missense	143162	0	0					g.chr10:49371699C>A	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.3553G>T	chr10.hg19:g.49371699C>A	ENSP00000363317:p.Ala1185Ser	0					FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S	p.A1185S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	0	1	1	1.978128	Q68DX3	FRPD2_HUMAN		28	3855	-			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	1	1	hg19	c.3553G>T	CCDS31195.1	1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674182	0.00758	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.61742	3.65;0.14;0.08;0.08	3.75	-0.861	0.10676	3.75	-0.861	0.10676	.	.	.	.	.	T	0.30324	0.0761	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.007;0.001;0.007;0.007	B;B;B;B;B	0.14578	0.01;0.011;0.001;0.011;0.01	T	0.15009	-1.0452	9	0.20519	T	0.43	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	S	137;1185;1160;1153	ENSP00000422446:A137S;ENSP00000363317:A1185S;ENSP00000307079:A1160S;ENSP00000384339:A1153S	ENSP00000307079:A1160S	A	-	1	0	0	FRMPD2	49041705	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1		11	2	2	0		0	1	148		148	219	1	2.060000	-20.000000	1	0.170000	NM_152428			110	97		585	507	0		1			0	0	148	0		1	0	0	0	0	0	0	110	585
FRMPD2	143162	broad.mit.edu	37	10	49446033	49446033	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						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)			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)		ATTTTGCTTACCTTGCTCCTT	0.577																																						ENST00000374201.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.e8+1		FERM and PDZ domain containing 2							127.0	126.0	126.0					10																	49446033		2203	4300	6503	SO:0001630	splice_region_variant	143162	0	0					g.chr10:49446033C>T	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.921+1G>A	chr10.hg19:g.49446033C>T		0					FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site		NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	0	1	1	1.978128	Q68DX3	FRPD2_HUMAN		8	1224	-			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	1	1	hg19		CCDS31195.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609163	0.28623	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.18	4.18	0.49190	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7138	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FRMPD2	49116039	49116039	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.079000	0.50104	2.268000	0.75426	0.462000	0.41574	.	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000	NM_152428	Intron		165	161		700	679	1		1			0	0	155	0		1	0	0	0	0	0	0	165	700
MAPK8	5599	broad.mit.edu	37	10	49612896	49612896	+	Splice_Site	SNP	G	G	A	rs200350498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T|MAPK8_ENST00000395611.3_Splice_Site_p.A42T|MAPK8_ENST00000360332.3_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	42	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)			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)		TTATTACAGCGCAGCTTATGA	0.373																																						ENST00000374189.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				34						c.(124-126)Gca>Aca		mitogen-activated protein kinase 8							65.0	68.0	67.0					10																	49612896		2203	4300	6503	SO:0001630	splice_region_variant	5599	1	121410	28				g.chr10:49612896G>A	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.123-1G>A	chr10.hg19:g.49612896G>A		0					MAPK8_ENST00000360332.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000395611.3_Splice_Site_p.A42T	p.A42T			0	1	1	1.978128	P45983	MK08_HUMAN		3	305	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Splice_Site	SNP	ENST00000374189.1	1	0	hg19	c.124G>A	CCDS7224.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622515	0.87460	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.64	5.64	0.86602	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056698	0.64402	D	0.000001	D	0.88833	0.6544	L	0.48260	1.515	0.80722	D	1	P;D;D;D;D	0.76494	0.951;0.999;0.995;0.999;0.999	P;D;D;D;D	0.68621	0.717;0.932;0.932;0.959;0.932	D	0.88888	0.3344	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	42;42;42;42;42	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	T	42	ENSP00000387936:A42T;ENSP00000363304:A42T;ENSP00000397729:A42T;ENSP00000363297:A42T;ENSP00000363294:A42T;ENSP00000353483:A42T;ENSP00000363291:A42T;ENSP00000363289:A42T;ENSP00000378974:A42T	ENSP00000353483:A42T	A	+	1	0	0	MAPK8	49282902	49282902	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.724000	0.74747	2.937000	0.99478	0.650000	0.86243	GCA	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-19.943000	1	0.170000		Missense_Mutation		44	43		259	256	1		1	1		0	0	52	0		1	9.998663e-01	0	24	0	57	0	44	259
MAPK8	5599	broad.mit.edu	37	10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	371					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)			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)		AAGAATGGAGTTATACGGGGG	0.373																																						ENST00000374189.1	0.910000	0.250000	7.200000e-01	3.600000e-01	0.520000	0.548456	0.520000	0.500000																										0				34						c.(1111-1113)gTt>gGt		mitogen-activated protein kinase 8							83.0	86.0	85.0					10																	49639287		2203	4300	6503	SO:0001583	missense	5599	0	0					g.chr10:49639287T>G	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.1112T>G	chr10.hg19:g.49639287T>G	ENSP00000363304:p.Val371Gly	0					MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G	p.V371G			0	1	1	1.978128	P45983	MK08_HUMAN		11	1293	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	1	1	hg19	c.1112T>G	CCDS7224.1	0	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620018	0.87460	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;T	0.75367	-0.92;-0.9;-0.9;-0.92;-0.93;-0.74	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.75447	2.3	0.80722	D	1	D;B;B;B;B	0.54601	0.967;0.125;0.001;0.001;0.257	D;B;B;B;B	0.64595	0.927;0.096;0.002;0.002;0.287	D	0.83661	0.0161	10	0.34782	T	0.22	.	16.2107	0.82151	0.0:0.0:0.0:1.0	.	295;371;371;371;371	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	371;371;371;371;371;295	ENSP00000363304:V371G;ENSP00000363297:V371G;ENSP00000363294:V371G;ENSP00000353483:V371G;ENSP00000363291:V371G;ENSP00000378974:V295G	ENSP00000353483:V371G	V	+	2	0	0	MAPK8	49309293	49309293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.293000	0.77203	0.477000	0.44152	GTT	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-10.731400	1	0.170000				8	8		176	175	0		1	1		0	0	36	0		9.896216e-01	9.739880e-01	0	6	0	138	0	8	176
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm (GO:0005737)		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478																																						ENST00000374160.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										1	Substitution - Missense(1)	p.R31C(1)	endometrium(1)	18						c.(91-93)Cgc>Tgc		leucine rich repeat containing 18							85.0	75.0	79.0					10																	50122110		2203	4300	6503	SO:0001583	missense	474354	4	121412	37				g.chr10:50122110G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.91C>T	chr10.hg19:g.50122110G>A	ENSP00000363275:p.Arg31Cys	0					WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	p.R31C	NM_001006939.3	NP_001006940.3	0	1	1	1.978128	Q8N456	LRC18_HUMAN		1	167	-			Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	1	1	hg19	c.91C>T	CCDS31197.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	0	LRRC18	49792116	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_001006939			35	34		184	182	1		1			0	0	62	0		1	0	0	0	0	0	0	35	184
C10orf71	118461	broad.mit.edu	37	10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532																																						ENST00000374144.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				1						c.(595-597)cCc>cTc		chromosome 10 open reading frame 71							37.0	38.0	38.0					10																	50531186		1985	4156	6141	SO:0001583	missense	118461	0	0					g.chr10:50531186C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.596C>T	chr10.hg19:g.50531186C>T	ENSP00000363259:p.Pro199Leu	0					C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L	p.P199L			0	1	1	1.978128	Q711Q0	CJ071_HUMAN		3	884	+			A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	1	1	hg19	c.596C>T	CCDS44387.1	1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953322	0.18431	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12672	2.66;3.8	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000139	T	0.09423	0.0232	L	0.46157	1.445	0.47547	D	0.999457	P	0.40970	0.734	B	0.38500	0.275	T	0.14587	-1.0467	10	0.02654	T	1	.	5.5496	0.17083	0.1932:0.6873:0.0:0.1195	.	199	Q711Q0-3	.	L	199	ENSP00000318713:P199L;ENSP00000363259:P199L	ENSP00000318713:P199L	P	+	2	0	0	C10orf71	50201192	50201192	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	2.530000	0.85305	0.561000	0.74099	CCC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_199459			39	38		187	183	1		1			0	0	65	0		1	0	0	0	0	0	0	39	187
DRGX	644168	broad.mit.edu	37	10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	202					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637																																						ENST00000374139.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(604-606)cGc>cAc		dorsal root ganglia homeobox							46.0	55.0	52.0					10																	50574348		2113	4216	6329	SO:0001583	missense	644168	0	0					g.chr10:50574348C>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.605G>A	chr10.hg19:g.50574348C>T	ENSP00000363254:p.Arg202His	0					DRGX_ENST00000434016.1_Missense_Mutation_p.R207H	p.R202H			0	1	1	1.978128	A6NNA5	DRGX_HUMAN		6	615	-				Missense_Mutation	SNP	ENST00000374139.2	1	1	hg19	c.605G>A		1	.	.	.	.	.	.	.	.	.	.	C	34	5.366093	0.95900	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.96554	-4.05;-4.05	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.107337	0.64402	D	0.000003	D	0.96725	0.8931	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	.	19.4819	0.95013	0.0:1.0:0.0:0.0	.	207	C9JW76	.	H	202;207	ENSP00000363254:R202H;ENSP00000401653:R207H	ENSP00000363254:R202H	R	-	2	0	0	DRGX	50244354	50244354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.746000	0.68681	2.595000	0.87683	0.655000	0.94253	CGC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-4.242128	1	0.170000	XM_060970			103	101		357	352	1		1			0	0	78	0		1	0	0	0	0	0	0	103	357
DRGX	644168	broad.mit.edu	37	10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	16					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567																																						ENST00000374139.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999370	0.990000	1.000000																										0				11						c.(46-48)Ttt>Att		dorsal root ganglia homeobox							36.0	37.0	37.0					10																	50599296		1907	4111	6018	SO:0001583	missense	644168	0	0					g.chr10:50599296A>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.46T>A	chr10.hg19:g.50599296A>T	ENSP00000363254:p.Phe16Ile	0					DRGX_ENST00000434016.1_Missense_Mutation_p.F21I	p.F16I			0	1	1	1.978128	A6NNA5	DRGX_HUMAN		2	56	-				Missense_Mutation	SNP	ENST00000374139.2	1	1	hg19	c.46T>A		1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687933	0.88639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95518	-3.73;-2.75	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.95023	0.8162	10	0.34782	T	0.22	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	21	C9JW76	.	I	16;21	ENSP00000363254:F16I;ENSP00000401653:F21I	ENSP00000363254:F16I	F	-	1	0	0	DRGX	50269302	50269302	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.575000	0.90766	2.224000	0.72417	0.459000	0.35465	TTT	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	XM_060970			17	17		84	81	1		1			0	0	20	0		9.999740e-01	0	0	0	0	0	0	17	84
ERCC6	2074	broad.mit.edu	37	10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1034					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)			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						TTTTAGATGGCATTTGGGTGT	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3100-3102)tGc>tAc	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementation group 6							121.0	123.0	122.0					10																	50678905		2203	4300	6503	SO:0001583	missense	2074	0	0					g.chr10:50678905C>T	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.3101G>A	chr10.hg19:g.50678905C>T	ENSP00000348089:p.Cys1034Tyr	0					ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	p.C1034Y	NM_000124.2	NP_000115.1	0	1	1	1.978128	Q03468	ERCC6_HUMAN		18	3179	-			D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	1	1	hg19	c.3101G>A	CCDS7229.1	1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506884	0.00992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82167	-1.58;-1.32	5.95	0.313	0.15842	5.95	0.313	0.15842	.	.	.	.	.	T	0.66268	0.2772	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.16802	0.016;0.019	B;B	0.09377	0.002;0.004	T	0.50092	-0.8868	9	0.27785	T	0.31	0.0041	4.9369	0.13944	0.1424:0.4866:0.0:0.371	.	1034;411	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1034;411;404	ENSP00000348089:C1034Y;ENSP00000445134:C404Y	ENSP00000348089:C1034Y	C	-	2	0	0	ERCC6	50348911	50348911	0.524000	0.26282	0.194000	0.23346	0.516000	0.34256	-0.170000	0.09897	0.126000	0.18424	0.655000	0.94253	TGC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	0	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_000124			118	118		611	603	1		1	1		0	0	114	0		1	9.037376e-01	0	11	0	12	0	118	611
SLC18A3	6572	broad.mit.edu	37	10	50819143	50819143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	119					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652																																						ENST00000374115.3	1.000000	0.800000	1	9.200000e-01	0.990000	0.972929	0.990000	1.000000																										0				43						c.(355-357)agC>agT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							78.0	79.0	79.0					10																	50819143		2203	4300	6503	SO:0001819	synonymous_variant	6572	0	0					g.chr10:50819143C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.357C>T	chr10.hg19:g.50819143C>T		0					CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	p.S119S	NM_003055.2	NP_003046.2	0	1	1	1.978128	Q16572	VACHT_HUMAN		1	797	+			B2R7S1	Silent	SNP	ENST00000374115.3	1	1	hg19	c.357C>T	CCDS7231.1	1																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-15.565190	1	0.170000	NM_003055			55	55		553	550	0		1			0	0	114	0		1	0	0	0	0	0	0	55	553
SLC18A3	6572	broad.mit.edu	37	10	50819427	50819427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819427T>C	ENST00000374115.3	+	1	1081	c.641T>C	c.(640-642)cTg>cCg	p.L214P	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	214					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGTCGTGCACTGGGCGTGGCG	0.667																																						ENST00000374115.3	0.920000	0.180000	6.900000e-01	3.000000e-01	0.470000	0.504651	0.470000	0.430000																										0				43						c.(640-642)cTg>cCg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							29.0	35.0	33.0					10																	50819427		2203	4300	6503	SO:0001583	missense	6572	0	0					g.chr10:50819427T>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.641T>C	chr10.hg19:g.50819427T>C	ENSP00000363229:p.Leu214Pro	0					CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	p.L214P	NM_003055.2	NP_003046.2	0	1	1	1.978128	Q16572	VACHT_HUMAN		1	1081	+			B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	0	1	hg19	c.641T>C	CCDS7231.1	0	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230827	0.79688	.	.	ENSG00000187714	ENST00000374115	T	0.61040	0.14	5.27	5.27	0.74061	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	U	0.000064	T	0.79764	0.4502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.87932	D	0	-1.6294	15.1805	0.72952	0.0:0.0:0.0:1.0	.	214	Q16572	VACHT_HUMAN	P	214	ENSP00000363229:L214P	ENSP00000363229:L214P	L	+	2	0	0	SLC18A3	50489433	50489433	1.000000	0.71417	0.957000	0.39632	0.966000	0.64601	7.846000	0.86887	1.994000	0.58287	0.459000	0.35465	CTG	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-8.766062	1	0.170000	NM_003055			5	5		126	125	0		1			0	0	25	0		9.375196e-01	0	0	0	0	0	0	5	126
SLC18A3	6572	broad.mit.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637																																						ENST00000374115.3	1.000000	0.640000	1	8.100000e-01	0.990000	0.931010	0.990000	1.000000																										0				43						c.(1216-1218)Gcc>Acc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							46.0	42.0	43.0					10																	50820002		2203	4300	6503	SO:0001583	missense	6572	0	0					g.chr10:50820002G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1216G>A	chr10.hg19:g.50820002G>A	ENSP00000363229:p.Ala406Thr	0					CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	p.A406T	NM_003055.2	NP_003046.2	0	1	1	1.978128	Q16572	VACHT_HUMAN		1	1656	+			B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	1	1	hg19	c.1216G>A	CCDS7231.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	0	SLC18A3	50490008	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-19.999990	1	0.170000	NM_003055			19	19		199	197	0		1	0		0	0	41	0		9.999920e-01	0	0	0	0	1	0	19	199
CHAT	1103	broad.mit.edu	37	10	50835752	50835752	+	Silent	SNP	C	C	T	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000337653.2	+	7	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D|CHAT_ENST00000339797.1_Silent_p.D226D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	344					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)			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)	CCAACGAGGACGAGCGTTTGC	0.552																																						ENST00000337653.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1030-1032)gaC>gaT		choline O-acetyltransferase	Choline(DB00122)|Nicotine(DB00184)	C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	145.0	121.0	129.0		678,786,678,1032,678,678,678	-8.2	0.6	10	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,,	226/631,262/667,226/631,344/749,226/631,226/631,226/631	50835752	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1103	7	121412	43				g.chr10:50835752C>T	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.1032C>T	chr10.hg19:g.50835752C>T		0					CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D	p.D344D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	0	1	1	1.978128	P28329	CLAT_HUMAN		7	1185	+		all_neural(218;0.107)	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	1	1	hg19	c.1032C>T	CCDS7232.1	1																																																																																								1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_020549			130	129		518	510	1		1			0	0	96	0		1	0	0	0	0	0	0	130	518
CHAT	1103	broad.mit.edu	37	10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000337653.2	+	8	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	414					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)			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)	GGAGGCTACAGCAAGAACGGG	0.632																																						ENST00000337653.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1240-1242)aGc>aTc		choline O-acetyltransferase	Choline(DB00122)|Nicotine(DB00184)						80.0	68.0	72.0					10																	50854680		2203	4300	6503	SO:0001583	missense	1103	0	0					g.chr10:50854680G>T	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.1241G>T	chr10.hg19:g.50854680G>T	ENSP00000337103:p.Ser414Ile	0					CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I	p.S414I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	0	1	1	1.978128	P28329	CLAT_HUMAN		8	1394	+		all_neural(218;0.107)	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	1	1	hg19	c.1241G>T	CCDS7232.1	1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.273852	0.41823	D	0.000806	D	0.82710	0.5096	N	0.20986	0.625	0.32519	N	0.536469	B;P	0.49635	0.314;0.926	B;P	0.45377	0.129;0.478	D	0.85254	0.1046	10	0.40728	T	0.16	-21.1977	10.4463	0.44497	0.1195:0.0:0.8805:0.0	.	296;414	F8W8I2;P28329	.;CLAT_HUMAN	I	296;296;296;414;332;296	ENSP00000343486:S296I;ENSP00000345878:S296I;ENSP00000378926:S296I;ENSP00000337103:S414I;ENSP00000378929:S332I;ENSP00000390521:S296I	ENSP00000337103:S414I	S	+	2	0	0	CHAT	50524686	50524686	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.560000	0.53763	2.569000	0.86673	0.655000	0.94253	AGC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000	NM_020549			54	53		259	257	1		1			0	0	51	0		1	0	0	0	0	0	0	54	259
CHAT	1103	broad.mit.edu	37	10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000337653.2	+	11	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	539					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)			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)	CCAGGTGGCCCTCCAGCTGGC	0.488																																						ENST00000337653.2	1.000000	0.360000	8.900000e-01	5.000000e-01	0.680000	0.698217	0.680000	1.000000																										0				56						c.(1615-1617)Ctc>Atc		choline O-acetyltransferase	Choline(DB00122)|Nicotine(DB00184)						74.0	72.0	73.0					10																	50860033		2203	4300	6503	SO:0001583	missense	1103	0	0					g.chr10:50860033C>A	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.1615C>A	chr10.hg19:g.50860033C>A	ENSP00000337103:p.Leu539Ile	0					CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I	p.L539I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	0	1	1	1.978128	P28329	CLAT_HUMAN		11	1768	+		all_neural(218;0.107)	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	1	1	hg19	c.1615C>A	CCDS7232.1	0	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440163	0.63067	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000009	D	0.93331	0.7874	L	0.60845	1.875	0.58432	D	0.999996	P;P	0.48016	0.904;0.761	P;P	0.57679	0.795;0.825	D	0.93744	0.7053	10	0.56958	D	0.05	-19.8669	17.9506	0.89052	0.0:1.0:0.0:0.0	.	421;539	F8W8I2;P28329	.;CLAT_HUMAN	I	421;421;421;539;457;421	ENSP00000343486:L421I;ENSP00000345878:L421I;ENSP00000378926:L421I;ENSP00000337103:L539I;ENSP00000378929:L457I;ENSP00000390521:L421I	ENSP00000337103:L539I	L	+	1	0	0	CHAT	50530039	50530039	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.675000	0.61619	2.242000	0.73789	0.561000	0.74099	CTC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.020767	1	0.170000	NM_020549			11	11		180	176	0		1	0		0	0	56	0		9.982934e-01	0	0	0	0	1	0	11	180
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					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)			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						GGCATCTCCACGGTAGAACTG	0.642																																						ENST00000374103.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1144-1146)cGt>cAt		oxoglutarate dehydrogenase-like							178.0	156.0	164.0					10																	50955097		2203	4300	6503	SO:0001583	missense	55753	3	121412	36				g.chr10:50955097C>T	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.1145G>A	chr10.hg19:g.50955097C>T	ENSP00000363216:p.Arg382His	0					OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	p.R382H	NM_018245.2	NP_060715.2	0	1	1	1.978128	Q9ULD0	OGDHL_HUMAN		9	1230	-			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	1	1	hg19	c.1145G>A	CCDS7234.1	1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160670	0.57368	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.14640	2.49;2.49;3.34	5.97	5.07	0.68467	5.97	5.07	0.68467	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	L	0.58969	1.84	0.80722	D	1	B;B;P	0.41420	0.305;0.052;0.749	B;B;B	0.34652	0.118;0.083;0.187	T	0.03587	-1.1022	10	0.31617	T	0.26	.	15.1812	0.72960	0.0:0.9326:0.0:0.0674	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	382;325;173	ENSP00000363216:R382H;ENSP00000401356:R325H;ENSP00000390240:R173H	ENSP00000363216:R382H	R	-	2	0	0	OGDHL	50625103	50625103	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	7.574000	0.82434	1.542000	0.49330	0.655000	0.94253	CGT	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_018245			79	77		362	354	1		1	0		0	0	99	0		1	4.375064e-01	0	1	0	7	0	79	362
AGAP7P	653268	broad.mit.edu	37	10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	rs77023418	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		362	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522																																						ENST00000374095.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1084-1086)aCc>aTc									70.0	85.0	80.0					10																	51465371		2200	4282	6482	SO:0001583	missense	0	0	0					g.chr10:51465371G>A																												ENST00000374095.5:c.1085C>T	chr10.hg19:g.51465371G>A	ENSP00000363208:p.Thr362Ile	0						p.T362I	NM_001077685.1	NP_001071153.1	0	1	1	1.978128	Q5VUJ5	AGAP7_HUMAN		7	1210	-			A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	1	1	hg19	c.1085C>T	CCDS41524.1	1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113683	0.37339	.	.	ENSG00000204169	ENST00000374095	T	0.55052	0.54	.	.	.	.	.	.	Pleckstrin homology domain (3);	0.394968	0.26765	N	0.022613	T	0.50871	0.1641	M	0.64997	1.995	0.43133	D	0.994876	P	0.48230	0.907	P	0.48738	0.588	T	0.45131	-0.9282	9	0.44086	T	0.13	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	362	Q5VUJ5	AGAP7_HUMAN	I	362	ENSP00000363208:T362I	ENSP00000363208:T362I	T	-	2	0	0	AGAP7	51135377	51135377	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	3.648000	0.54410	0.172000	0.19760	0.175000	0.17021	ACC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1	0	0	1		12	2	2	1		1	1	191		191	193	1	2.060000	-3.357349	1	0.170000				199	110		813	477	1		1			1	0	191	0		1	0	0	0	0	0	0	199	813
AGAP7P	653268	broad.mit.edu	37	10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463																																						ENST00000374095.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(973-975)Gcc>Acc									134.0	158.0	150.0					10																	51465483		2197	4297	6494	SO:0001583	missense	0	0	0					g.chr10:51465483C>T																												ENST00000374095.5:c.973G>A	chr10.hg19:g.51465483C>T	ENSP00000363208:p.Ala325Thr	0						p.A325T	NM_001077685.1	NP_001071153.1	0	1	1	1.978128	Q5VUJ5	AGAP7_HUMAN		7	1098	-			A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	1	1	hg19	c.973G>A	CCDS41524.1	1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400457	0.42613	.	.	ENSG00000204169	ENST00000374095	T	0.56776	0.44	.	.	.	.	.	.	Pleckstrin homology domain (3);	0.064498	0.64402	D	0.000011	T	0.65123	0.2661	M	0.79693	2.465	0.36548	D	0.871687	D	0.53462	0.96	D	0.63703	0.917	T	0.66520	-0.5903	9	0.51188	T	0.08	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	325	Q5VUJ5	AGAP7_HUMAN	T	325	ENSP00000363208:A325T	ENSP00000363208:A325T	A	-	1	0	0	AGAP7	51135489	51135489	0.967000	0.33354	0.011000	0.14972	0.011000	0.07611	2.985000	0.49362	0.172000	0.19760	0.175000	0.17021	GCC	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1	1	0	1		2	2	2	0		0	0	257		257	258	1	2.060000	-20.000000	1	0.170000				260	223		1030	870	1		1			0	0	257	0		1	0	0	0	0	0	0	260	1030
NCOA4	8031	broad.mit.edu	37	10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A	rs373872053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000443446.1	+	8	980	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	251					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.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388			T	RET	papillary thyroid																																	ENST00000443446.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q11.2	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)				E	E	RET		papillary thyroid		1	Substitution - Missense(1)	p.G267W(1)	lung(1)	5						c.(751-753)Ggg>Agg		nuclear receptor coactivator 4							56.0	60.0	59.0					10																	51584652		2203	4300	6503	SO:0001583	missense	8031	9	121412	35				g.chr10:51584652G>A	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.751G>A	chr10.hg19:g.51584652G>A	ENSP00000390713:p.Gly251Arg	0					NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R	p.G251R	NM_001145262.1	NP_001138734.1	0	1	1	1.978128	Q13772	NCOA4_HUMAN		8	980	+			A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	1	1	hg19	c.751G>A	CCDS7237.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.62|14.62	2.591007|2.591007	0.46214|0.46214	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.03|6.03	4.9|4.9	0.64082|0.64082	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.054224|.	0.85682|.	D|.	0.000000|.	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.28431|0.28431	N|N	0.917286|0.917286	B;B;B;P|.	0.40083|.	0.233;0.107;0.107;0.702|.	B;B;B;B|.	0.31245|.	0.007;0.007;0.007;0.126|.	T|T	0.17198|0.17198	-1.0377|-1.0377	10|5	0.59425|.	D|.	0.04|.	-29.3647|-29.3647	13.562|13.562	0.61795|0.61795	0.0:0.0:0.1311:0.8689|0.0:0.0:0.1311:0.8689	.|.	151;267;267;251|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	R|Q	267;267;151;251;85;251;251;251|166	ENSP00000405146:G267R;ENSP00000395465:G267R;ENSP00000393053:G151R;ENSP00000363200:G251R;ENSP00000411018:G85R;ENSP00000344552:G251R;ENSP00000363195:G251R;ENSP00000390713:G251R|.	ENSP00000344552:G251R|.	G|R	+|+	1|2	0|0	0|0	NCOA4|NCOA4	51254658|51254658	51254658|51254658	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.704000|0.704000	0.40688|0.40688	5.510000|5.510000	0.67018|0.67018	1.104000|1.104000	0.41587|0.41587	-0.256000|-0.256000	0.11100|0.11100	GGG|CGG	1.643174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.819723	1	0.170000	NM_005437			102	100		401	388	1		1	1		0	0	104	0		1	1	0	143	0	569	0	102	401
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	160					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507																																						ENST00000361781.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(460-462)tCg>tTg		sphingomyelin synthase 1		G	LEU/SER	0,4406		0,0,2203	69.0	62.0	64.0		461	5.6	1.0	10	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SGMS1	NM_147156.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	154/414	52103414	1,13005	2203	4300	6503	SO:0001583	missense	259230	6	121410	38				g.chr10:52103414G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.461C>T	chr10.hg19:g.52103414G>A	ENSP00000354829:p.Ser154Leu	0					SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	p.S154L	NM_147156.3	NP_671512.1	1	2	3	2.008551	Q86VZ5	SMS1_HUMAN		7	1420	-			Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	1	1	hg19	c.461C>T	CCDS7240.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310062	0.81247	0.0	1.16E-4	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.45668	0.98;0.89	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.52011	1.625	0.58432	D	0.999998	D	0.57571	0.98	P	0.48488	0.579	T	0.47355	-0.9124	10	0.56958	D	0.05	-9.9208	17.1838	0.86861	0.0:0.0:1.0:0.0	.	160	Q86VZ5	SMS1_HUMAN	L	154	ENSP00000354829:S154L;ENSP00000355235:S154L	ENSP00000355235:S154L	S	-	2	0	0	SGMS1	51773420	51773420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.648000	0.89879	0.650000	0.86243	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-4.021166	1	0.170000	NM_147156			66	66		231	229	1		1	1		0	0	51	0		1	9.999868e-01	0	10	0	51	0	66	231
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000373993.1	1.000000	0.730000	1	8.600000e-01	0.990000	0.949834	0.990000	1.000000																										4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	29						c.(583-585)gCg>gTg		APOBEC1 complementation factor							106.0	96.0	100.0					10																	52595854		2203	4300	6503	SO:0001583	missense	29974	2	121406	33				g.chr10:52595854G>A	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.584C>T	chr10.hg19:g.52595854G>A	ENSP00000363105:p.Ala195Val	0					A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V	p.A195V			1	2	3	2.008551	Q9NQ94	A1CF_HUMAN		4	628	-			A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	1	1	hg19	c.584C>T	CCDS7242.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	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	6.04	5.1	0.69264	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	0	A1CF	52265860	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	1	0	0		2	2	2	0		0	0	88		88	86	1	2.060000	-11.229620	1	0.170000	NM_014576			39	39		423	405	0		1	0		0	0	88	0		1	2.143297e-02	0	0	0	3	0	39	423
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000320301.6	-	33	5401	c.5007C>A	c.(5005-5007)ttC>ttA	p.F1669L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1671L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					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)				TGGAGAATGAGAAGTGAGGCC	0.418										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(5005-5007)ttC>ttA		protocadherin-related 15							144.0	142.0	143.0					10																	55582479		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55582479G>T	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.5007C>A	chr10.hg19:g.55582479G>T	ENSP00000322604:p.Phe1669Leu	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1671L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000414778.1_Intron	p.F1669L	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		33	5401	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.5007C>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695374	0.30052	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54479	0.6;0.57;0.61;0.58;0.58;0.6	4.95	1.56	0.23342	4.95	1.56	0.23342	.	.	.	.	.	T	0.31918	0.0812	N	0.19112	0.55	0.25252	N	0.989667	B;B;B;B;B;B;B;B	0.25850	0.136;0.039;0.039;0.064;0.002;0.039;0.136;0.039	B;B;B;B;B;B;B;B	0.25759	0.063;0.039;0.039;0.028;0.003;0.039;0.055;0.039	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.3863	0.21561	0.5148:0.0:0.4852:0.0	.	1646;1669;1671;1676;1600;1629;1666;1669	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1629;1671;1646;1669;1666;1676;1600	ENSP00000378820:F1629L;ENSP00000354950:F1671L;ENSP00000378821:F1646L;ENSP00000322604:F1669L;ENSP00000378818:F1666L;ENSP00000412628:F1600L	ENSP00000322604:F1669L	F	-	3	2	2	PCDH15	55252485	55252485	0.992000	0.36948	0.808000	0.32385	0.419000	0.31324	0.704000	0.25661	0.480000	0.27534	0.655000	0.94253	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_033056			97	94		462	452	1		1			0	0	111	0		1	0	0	0	0	0	0	97	462
PCDH15	65217	broad.mit.edu	37	10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000320301.6	-	32	4742	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1457K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1450					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)				TCTCCAAGTTCTTCATAGAGA	0.552										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(4348-4350)Gaa>Aaa		protocadherin-related 15							58.0	63.0	61.0					10																	55587172		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55587172C>T	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.4348G>A	chr10.hg19:g.55587172C>T	ENSP00000322604:p.Glu1450Lys	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1457K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K	p.E1450K	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		32	4742	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.4348G>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.692534	0.96793	.	.	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	0.65549	0.38;0.4;0.23;0.08;0.27;-0.05;-0.09;-0.02;-0.1;-0.11;-0.16	5.64	5.64	0.86602	5.64	5.64	0.86602	.	.	.	.	.	T	0.77698	0.4169	L	0.61218	1.895	0.58432	D	0.999999	P;P;P;P;P;P;P;D;D;D;D;D;P	0.71674	0.773;0.919;0.864;0.749;0.946;0.864;0.773;0.998;0.995;0.997;0.997;0.995;0.919	B;P;B;B;P;B;B;D;P;D;P;P;P	0.79784	0.354;0.507;0.407;0.284;0.776;0.407;0.354;0.993;0.872;0.91;0.872;0.9;0.507	T	0.78687	-0.2107	9	0.87932	D	0	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	1425;1450;1450;1455;1379;1410;1447;1450;1457;1457;1450;1452;1450	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1457;1452;1450;1450;1061;1457;1410;1450;1425;1450;1447;1455;1379	ENSP00000363076:E1457K;ENSP00000410304:E1452K;ENSP00000378826:E1450K;ENSP00000386693:E1061K;ENSP00000378832:E1457K;ENSP00000378820:E1410K;ENSP00000354950:E1450K;ENSP00000378821:E1425K;ENSP00000322604:E1450K;ENSP00000378818:E1447K;ENSP00000412628:E1379K	ENSP00000322604:E1450K	E	-	1	0	0	PCDH15	55257178	55257178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.840000	0.75369	2.807000	0.96579	0.591000	0.81541	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_033056			112	109		560	552	0		1			0	0	95	0		1	0	0	0	0	0	0	112	560
PCDH15	65217	broad.mit.edu	37	10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000320301.6	-	29	4256	c.3862T>A	c.(3862-3864)Tcc>Acc	p.S1288T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1295T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1288					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)				GCTCCAATGGACTCCACTACG	0.458										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(3862-3864)Tcc>Acc		protocadherin-related 15							111.0	100.0	104.0					10																	55600201		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55600201A>T	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.3862T>A	chr10.hg19:g.55600201A>T	ENSP00000322604:p.Ser1288Thr	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1295T|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T	p.S1288T	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		29	4256	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.3862T>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455461	0.63401	.	.	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	0.58506	0.45;0.49;0.44;0.45;0.4;0.36;0.33;0.39;0.34;0.34;0.34	5.43	5.43	0.79202	5.43	5.43	0.79202	.	.	.	.	.	T	0.62974	0.2472	N	0.24115	0.695	0.80722	D	1	D;P;P;P;B;P;D;B;B;B;B;B;P	0.57257	0.979;0.719;0.589;0.589;0.224;0.719;0.979;0.025;0.131;0.131;0.052;0.172;0.589	D;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.983;0.241;0.145;0.145;0.145;0.241;0.983;0.061;0.109;0.109;0.083;0.145;0.145	T	0.61888	-0.6970	9	0.32370	T	0.25	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	1266;1288;1288;1293;1217;1251;1288;1288;1295;1295;1288;1293;1288	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1295;1293;1288;1288;899;1295;1251;1288;1266;1288;1288;1293;1217	ENSP00000363076:S1295T;ENSP00000410304:S1293T;ENSP00000378826:S1288T;ENSP00000386693:S899T;ENSP00000378832:S1295T;ENSP00000378820:S1251T;ENSP00000354950:S1288T;ENSP00000378821:S1266T;ENSP00000322604:S1288T;ENSP00000378818:S1288T;ENSP00000412628:S1217T	ENSP00000322604:S1288T	S	-	1	0	0	PCDH15	55270207	55270207	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.059000	0.64306	2.182000	0.69389	0.472000	0.43445	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_033056			73	71		283	280	1		1			0	0	80	0		1	0	0	0	0	0	0	73	283
PCDH15	65217	broad.mit.edu	37	10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000320301.6	-	29	4224	c.3830A>C	c.(3829-3831)gAa>gCa	p.E1277A	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1284A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1277					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)				AGGAATTTGTTCCTGAACATA	0.428										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(3829-3831)gAa>gCa		protocadherin-related 15							81.0	74.0	76.0					10																	55600233		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55600233T>G	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.3830A>C	chr10.hg19:g.55600233T>G	ENSP00000322604:p.Glu1277Ala	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1284A|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A	p.E1277A	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		29	4224	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.3830A>C	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414872	0.83449	.	.	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	0.58358	0.41;0.46;0.4;0.4;0.36;0.37;0.34;0.4;0.35;0.35;0.35	5.43	5.43	0.79202	5.43	5.43	0.79202	.	.	.	.	.	T	0.45895	0.1365	N	0.19112	0.55	0.43399	D	0.995528	P;P;P;P;P;P;P;B;P;P;P;P;P	0.49090	0.773;0.864;0.864;0.864;0.753;0.864;0.773;0.288;0.773;0.773;0.647;0.774;0.919	B;B;B;B;B;B;B;B;P;P;B;B;P	0.46389	0.257;0.345;0.345;0.345;0.345;0.345;0.257;0.242;0.515;0.515;0.345;0.345;0.496	T	0.51919	-0.8644	9	0.66056	D	0.02	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1255;1277;1277;1282;1206;1240;1277;1277;1284;1284;1277;1282;1277	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	1284;1282;1277;1277;888;1284;1240;1277;1255;1277;1277;1282;1206	ENSP00000363076:E1284A;ENSP00000410304:E1282A;ENSP00000378826:E1277A;ENSP00000386693:E888A;ENSP00000378832:E1284A;ENSP00000378820:E1240A;ENSP00000354950:E1277A;ENSP00000378821:E1255A;ENSP00000322604:E1277A;ENSP00000378818:E1277A;ENSP00000412628:E1206A	ENSP00000322604:E1277A	E	-	2	0	0	PCDH15	55270239	55270239	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_033056			58	56		234	230	1		1			0	0	60	0		1	0	0	0	0	0	0	58	234
PCDH15	65217	broad.mit.edu	37	10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000320301.6	-	27	4014	c.3620C>A	c.(3619-3621)gCt>gAt	p.A1207D	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1214D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1207	Cadherin 11. {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)			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)				GAAGAGCATAGCAGTTTTGAT	0.413										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.810000	1	9.500000e-01	0.990000	0.980779	0.990000	1.000000																										0				237						c.(3619-3621)gCt>gAt		protocadherin-related 15							161.0	141.0	147.0					10																	55626499		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55626499G>T	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.3620C>A	chr10.hg19:g.55626499G>T	ENSP00000322604:p.Ala1207Asp	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1214D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D	p.A1207D	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		27	4014	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.3620C>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003174	0.93287	.	.	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	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	5.81	0.92471	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75997	0.3926	M	0.82056	2.57	0.80722	D	1	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;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.996;1.0;1.0;1.0;1.0;0.998;0.998;0.998;1.0;0.998	T	0.77765	-0.2465	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1185;1207;1207;1212;1136;1170;1207;1207;1214;1214;1207;1212;1207	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1214;1212;1207;1207;818;1214;1170;1207;1185;1207;1207;1212;1136	ENSP00000363076:A1214D;ENSP00000410304:A1212D;ENSP00000378826:A1207D;ENSP00000386693:A818D;ENSP00000378832:A1214D;ENSP00000378820:A1170D;ENSP00000354950:A1207D;ENSP00000378821:A1185D;ENSP00000322604:A1207D;ENSP00000378818:A1207D;ENSP00000412628:A1136D	ENSP00000322604:A1207D	A	-	2	0	0	PCDH15	55296505	55296505	1.000000	0.71417	0.960000	0.40013	0.957000	0.61999	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-13.303420	1	0.170000	NM_033056			41	41		398	394	0		1			0	0	82	0		1	0	0	0	0	0	0	41	398
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	G	T	rs535499066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000320301.6	-	23	3472	c.3078C>A	c.(3076-3078)gtC>gtA	p.V1026V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395430.1_Silent_p.V1026V	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)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.V1031V(1)|p.V1026V(1)	large_intestine(2)	237						c.(3076-3078)gtC>gtA		protocadherin-related 15							88.0	79.0	82.0					10																	55719536		2203	4300	6503	SO:0001819	synonymous_variant	65217	0	0					g.chr10:55719536G>T	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	chr10.hg19:g.55719536G>T		0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000414778.1_Silent_p.V1031V	p.V1026V	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		23	3472	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	1	1	hg19	c.3078C>A	CCDS7248.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_033056			51	50		181	176	1		1			0	0	51	0		1	0	0	0	0	0	0	51	181
PCDH15	65217	broad.mit.edu	37	10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000320301.6	-	18	2510	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.V713L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6. {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)			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)				TCTGTCACCACTATGTTTACT	0.383										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(2116-2118)Gtg>Ttg		protocadherin-related 15							93.0	87.0	89.0					10																	55826621		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55826621C>A	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.2116G>T	chr10.hg19:g.55826621C>A	ENSP00000322604:p.Val706Leu	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V713L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L	p.V706L	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		18	2510	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.2116G>T	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.19;0.72	5.85	4.94	0.65067	5.85	4.94	0.65067	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	L	0.31526	0.94	0.42527	D	0.993024	D;P;D;P;D;D;D;P;D;P;P;P;D;P;D	0.65815	0.995;0.939;0.974;0.743;0.992;0.988;0.995;0.884;0.97;0.939;0.949;0.884;0.958;0.942;0.988	D;P;P;P;P;P;D;P;P;P;P;P;P;P;D	0.75484	0.986;0.81;0.81;0.51;0.855;0.9;0.986;0.78;0.868;0.826;0.719;0.78;0.607;0.816;0.932	T	0.67522	-0.5649	9	0.46703	T	0.11	.	15.3458	0.74337	0.1409:0.8591:0.0:0.0	.	684;706;706;711;635;669;706;706;713;713;706;711;706;684;706	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	713;711;706;706;317;713;669;706;684;684;706;706;711;635;706	ENSP00000363076:V713L;ENSP00000410304:V711L;ENSP00000378826:V706L;ENSP00000386693:V317L;ENSP00000378832:V713L;ENSP00000378820:V669L;ENSP00000354950:V706L;ENSP00000378821:V684L;ENSP00000363068:V684L;ENSP00000322604:V706L;ENSP00000378818:V706L;ENSP00000412628:V635L;ENSP00000363066:V706L	ENSP00000322604:V706L	V	-	1	0	0	PCDH15	55496627	55496627	0.997000	0.39634	0.736000	0.30914	0.971000	0.66376	3.673000	0.54591	1.465000	0.48006	0.655000	0.94253	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_033056			64	63		287	280	1		1			0	0	63	0		1	0	0	0	0	0	0	64	287
PCDH15	65217	broad.mit.edu	37	10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000320301.6	-	15	2292	c.1898C>A	c.(1897-1899)gCt>gAt	p.A633D	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A640D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	633	Cadherin 6. {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)			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)				TAATAAAACAGCACCAACCCT	0.388										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999528	0.990000	1.000000																										0				237						c.(1897-1899)gCt>gAt		protocadherin-related 15							110.0	90.0	97.0					10																	55892654		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55892654G>T	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.1898C>A	chr10.hg19:g.55892654G>T	ENSP00000322604:p.Ala633Asp	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A640D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D	p.A633D	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		15	2292	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.1898C>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721110	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.67	5.67	0.87782	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64940	0.2644	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.987;1.0;1.0;1.0;1.0;0.999;1.0;0.972;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.985;0.966;1.0;1.0;0.998;0.995;0.992;0.998;0.946;0.996;0.992;0.998	T	0.60229	-0.7304	9	0.41790	T	0.15	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	611;633;633;638;596;633;633;640;640;633;638;633;611;633	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	640;638;633;633;244;640;633;596;633;611;611;633;633;638;633	ENSP00000363076:A640D;ENSP00000410304:A638D;ENSP00000378826:A633D;ENSP00000386693:A244D;ENSP00000378832:A640D;ENSP00000378833:A633D;ENSP00000378820:A596D;ENSP00000354950:A633D;ENSP00000378821:A611D;ENSP00000363068:A611D;ENSP00000322604:A633D;ENSP00000378818:A633D;ENSP00000363066:A633D	ENSP00000322604:A633D	A	-	2	0	0	PCDH15	55562660	55562660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.438000	0.97539	2.838000	0.97847	0.591000	0.81541	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_033056			20	20		112	108	1		1			0	0	34	0		9.999963e-01	0	0	0	0	0	0	20	112
PCDH15	65217	broad.mit.edu	37	10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000320301.6	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L270R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	270					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)				GTTTGGCACAAGGACACAAGG	0.463										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995770	0.990000	1.000000																										0				237						c.(808-810)cTt>cGt		protocadherin-related 15							185.0	143.0	157.0					10																	56077098		2203	4300	6503	SO:0001583	missense	65217	3	121406	38				g.chr10:56077098A>C	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.809T>G	chr10.hg19:g.56077098A>C	ENSP00000322604:p.Leu270Arg	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L270R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R	p.L270R	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		8	1203	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.809T>G	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204285	0.58234	.	.	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	0.60920	0.31;0.33;0.26;0.28;0.32;0.55;0.46;0.23;0.15;0.19;0.18;0.15;0.15;0.23;0.36	4.77	4.77	0.60923	4.77	4.77	0.60923	.	.	.	.	.	T	0.68118	0.2966	L	0.48362	1.52	0.32019	N	0.600995	D;P;P;B;D;P;D;D;P;B;D;D;D;D;P	0.76494	0.997;0.866;0.506;0.199;0.997;0.866;0.997;0.991;0.506;0.307;0.999;0.999;0.979;0.999;0.506	D;P;B;B;D;P;D;D;B;B;D;D;D;D;B	0.72338	0.958;0.521;0.217;0.099;0.968;0.521;0.958;0.954;0.292;0.217;0.968;0.977;0.951;0.968;0.217	T	0.70063	-0.4975	9	0.30078	T	0.28	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	248;270;270;275;270;233;270;270;270;270;270;275;270;248;270	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	270;275;270;270;270;270;270;270;233;270;248;248;270;270;275;270;270	ENSP00000363076:L270R;ENSP00000410304:L275R;ENSP00000378826:L270R;ENSP00000378832:L270R;ENSP00000378833:L270R;ENSP00000378829:L270R;ENSP00000378827:L270R;ENSP00000378820:L233R;ENSP00000354950:L270R;ENSP00000378821:L248R;ENSP00000363068:L248R;ENSP00000322604:L270R;ENSP00000378818:L270R;ENSP00000412628:L270R;ENSP00000363066:L270R	ENSP00000322604:L270R	L	-	2	0	0	PCDH15	55747104	55747104	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	7.394000	0.79862	1.901000	0.55032	0.455000	0.32223	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_033056			59	57		527	515	1		1			0	0	91	0		1	0	0	0	0	0	0	59	527
PCDH15	65217	broad.mit.edu	37	10	56129000	56129000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000320301.6	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000373965.2_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1. {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)			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)				TGATGCACTGGACCTGCACCA	0.398										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				237						c.(352-354)gtC>gtT		protocadherin-related 15							129.0	103.0	112.0					10																	56129000		2203	4300	6503	SO:0001819	synonymous_variant	65217	0	0					g.chr10:56129000G>A	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.354C>T	chr10.hg19:g.56129000G>A		0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000373965.2_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V	p.V118V	NM_033056.3	NP_149045.3	1	2	3	2.008551	Q96QU1	PCD15_HUMAN		5	748	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	1	1	hg19	c.354C>T	CCDS7248.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_033056			44	44		172	171	1		1			0	0	41	0		1	0	0	0	0	0	0	44	172
ZWINT	11130	broad.mit.edu	37	10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D|ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	228					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)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537																																						ENST00000373944.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(682-684)gCt>gAt		ZW10 interacting kinetochore protein							55.0	53.0	54.0					10																	58118426		2203	4300	6503	SO:0001583	missense	11130	0	0					g.chr10:58118426G>T	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.683C>A	chr10.hg19:g.58118426G>T	ENSP00000363055:p.Ala228Asp	0					ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000460654.1_5'UTR	p.A228D			1	2	3	2.008551	O95229	ZWINT_HUMAN		7	721	-			A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	1	1	hg19	c.683C>A	CCDS7249.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978392	0.53720	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.73	2.78	0.32641	3.73	2.78	0.32641	.	0.750699	0.11474	N	0.560436	T	0.53883	0.1824	L	0.60455	1.87	0.09310	N	1	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.45352	-0.9267	10	0.72032	D	0.01	-11.8392	8.9761	0.35937	0.0:0.2273:0.7727:0.0	.	181;228	A6NNV6;O95229	.;ZWINT_HUMAN	D	228;228;108;181	ENSP00000363055:A228D;ENSP00000378801:A228D;ENSP00000322850:A108D;ENSP00000354921:A181D	ENSP00000322850:A108D	A	-	2	0	0	ZWINT	57788432	57788432	0.023000	0.18921	0.029000	0.17559	0.013000	0.08279	2.383000	0.44354	1.085000	0.41206	0.563000	0.77884	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				67	65		268	262	1		1	1		0	0	76	0		1	9.999957e-01	0	34	0	40	0	67	268
ZWINT	11130	broad.mit.edu	37	10	58118706	58118706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000361148.6_Silent_p.E161E|ZWINT_ENST00000318387.2_Silent_p.E41E			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					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)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542																																						ENST00000373944.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(481-483)gaG>gaA		ZW10 interacting kinetochore protein							64.0	62.0	63.0					10																	58118706		2203	4300	6503	SO:0001819	synonymous_variant	11130	0	0					g.chr10:58118706C>T	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.483G>A	chr10.hg19:g.58118706C>T		0					ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000361148.6_Silent_p.E161E|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000460654.1_5'UTR	p.E161E			1	2	3	2.008551	O95229	ZWINT_HUMAN		6	521	-			A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	1	1	hg19	c.483G>A	CCDS7249.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000				69	66		345	334	1		1	1		0	0	81	0		1	9.999970e-01	0	30	0	64	0	69	345
UBE2D1	7321	broad.mit.edu	37	10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|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)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383																																						ENST00000373910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(73-75)cCt>cAt		ubiquitin-conjugating enzyme E2D 1							157.0	147.0	150.0					10																	60121147		2203	4300	6503	SO:0001583	missense	7321	0	0					g.chr10:60121147C>A	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.74C>A	chr10.hg19:g.60121147C>A	ENSP00000363019:p.Pro25His	0						p.P25H	NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	1	2	3	2.008551	P51668	UB2D1_HUMAN		2	301	+			A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	1	1	hg19	c.74C>A	CCDS7252.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904294	0.92035	.	.	ENSG00000072401	ENST00000373910	T	0.60171	0.21	6.07	6.07	0.98685	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88960	0.3393	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	25	P51668	UB2D1_HUMAN	H	25	ENSP00000363019:P25H	ENSP00000363019:P25H	P	+	2	0	0	UBE2D1	59791153	59791153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.885000	0.99019	0.655000	0.94253	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.235849	1	0.170000	NM_003338			74	73		375	367	1		1	1		0	0	95	0		1	9.999900e-01	0	27	0	59	0	74	375
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468																																						ENST00000373886.3	1.000000	0.350000	8.000000e-01	4.600000e-01	0.590000	0.631039	0.590000	0.570000																										1	Substitution - coding silent(1)	p.S943S(1)	large_intestine(1)	44						c.(2827-2829)tcG>tcA		BicC family RNA binding protein 1							91.0	83.0	86.0					10																	60588555		2203	4300	6503	SO:0001819	synonymous_variant	80114	11	121406	42				g.chr10:60588555G>A	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.2829G>A	chr10.hg19:g.60588555G>A		0						p.S943S	NM_001080512.1	NP_001073981.1	1	2	3	2.008551	Q9H694	BICC1_HUMAN		21	2833	+				Silent	SNP	ENST00000373886.3	1	1	hg19	c.2829G>A	CCDS31206.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.810881	1	0.170000	NM_025044			16	13		314	306	0		1	0		0	0	53	0		9.999190e-01	8.920843e-01	0	0	0	79	0	16	314
CCDC6	8030	broad.mit.edu	37	10	61554264	61554264	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478			T	RET	NSCLC																																	ENST00000263102.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q21	10q21	8030	T	coiled-coil domain containing 6				E	E	RET		NSCLC	CCDC6/RET(4)	0				18						c.(1195-1197)caC>caT		coiled-coil domain containing 6							146.0	123.0	131.0					10																	61554264		2203	4300	6503	SO:0001819	synonymous_variant	8030	10	121412	40				g.chr10:61554264G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1197C>T	chr10.hg19:g.61554264G>A		0						p.H399H	NM_005436.4	NP_005427.2	1	2	3	2.008551	Q16204	CCDC6_HUMAN		8	1428	-			Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	1	1	hg19	c.1197C>T	CCDS7257.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	0	0	1		17	12	2	1		1	1	63		63	63	1	2.060000	-3.279951	1	0.170000	NM_005436			54	53		258	253	0		1	1		1	0	63	0		9.999992e-01	9.999681e-01	0	62	0	137	0	54	258
CCDC6	8030	broad.mit.edu	37	10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	273						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418			T	RET	NSCLC																																	ENST00000263102.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		10	10q21	10q21	8030	T	coiled-coil domain containing 6				E	E	RET		NSCLC	CCDC6/RET(4)	0				18						c.(817-819)aaG>aaT		coiled-coil domain containing 6							107.0	108.0	108.0					10																	61572421		2203	4300	6503	SO:0001583	missense	8030	0	0					g.chr10:61572421C>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.819G>T	chr10.hg19:g.61572421C>A	ENSP00000263102:p.Lys273Asn	0						p.K273N	NM_005436.4	NP_005427.2	1	2	3	2.008551	Q16204	CCDC6_HUMAN		5	1050	-			Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	1	1	hg19	c.819G>T	CCDS7257.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762443	0.89932	.	.	ENSG00000108091	ENST00000263102	D	0.94758	-3.51	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.084305	0.85682	D	0.000000	D	0.95968	0.8687	L	0.52573	1.65	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	D	0.96012	0.9002	10	0.72032	D	0.01	-28.4454	19.8904	0.96928	0.0:1.0:0.0:0.0	.	273	Q16204	CCDC6_HUMAN	N	273	ENSP00000263102:K273N	ENSP00000263102:K273N	K	-	3	2	2	CCDC6	61242427	61242427	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.879000	0.63100	2.697000	0.92050	0.650000	0.86243	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_005436			88	88		311	309	1		1	1		0	0	73	0		1	1	0	49	0	101	0	88	311
ANK3	288	broad.mit.edu	37	10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A	rs375600068		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2558					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)			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						TCAGTAAAGCGCATCCACATG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.0					ENST00000280772.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(7672-7674)Cgc>Tgc		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,CYS/ARG	0,4406		0,0,2203	151.0	139.0	143.0		,,,7672	5.5	1.0	10		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,possibly-damaging	,,,2558/4378	61832967	1,13005	2203	4300	6503	SO:0001583	missense	288	12	121412	44				g.chr10:61832967G>A	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.7672C>T	chr10.hg19:g.61832967G>A	ENSP00000280772:p.Arg2558Cys	0					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R2558C	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		37	7863	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	1	1	hg19	c.7672C>T	CCDS7258.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036538	0.54896	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.70164	-0.46	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.258119	0.23413	N	0.048452	T	0.69860	0.3158	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.74309	-0.3707	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2558	Q12955	ANK3_HUMAN	C	2558	ENSP00000280772:R2558C	ENSP00000280772:R2558C	R	-	1	0	0	ANK3	61502973	61502973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.564000	0.86499	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_020987			123	121		580	565	1		1			0	0	113	0		1	0	0	0	0	0	0	123	580
ANK3	288	broad.mit.edu	37	10	61834648	61834648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1997					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)			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						TGGCTTCCCGGATTTCTTCCG	0.448																																						ENST00000280772.2	1.000000	0.260000	6.200000e-01	3.500000e-01	0.460000	0.506747	0.460000	0.440000																										0				196						c.(5989-5991)atC>atT		ankyrin 3, node of Ranvier (ankyrin G)							70.0	73.0	72.0					10																	61834648		2203	4300	6503	SO:0001819	synonymous_variant	288	0	0					g.chr10:61834648G>A	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.5991C>T	chr10.hg19:g.61834648G>A		0					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.I1997I	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		37	6182	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	1	1	hg19	c.5991C>T	CCDS7258.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	1		16	2	2	1		1	1	86		86	86	1	2.060000	-3.713719	1	0.170000	NM_020987			15	14		388	382	0		0			1	0	86	0		4.771874e-01	0	0	0	0	0	0	15	388
ANK3	288	broad.mit.edu	37	10	61846505	61846505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000503366.1_Silent_p.S1227S|ANK3_ENST00000373827.2_Silent_p.S1220S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1226	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			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						CACCTTCTCCTGAGGGCGGGG	0.458																																						ENST00000280772.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(3676-3678)tcA>tcG		ankyrin 3, node of Ranvier (ankyrin G)							145.0	133.0	137.0					10																	61846505		2203	4300	6503	SO:0001819	synonymous_variant	288	0	0					g.chr10:61846505T>C	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.3678A>G	chr10.hg19:g.61846505T>C		0					ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000373827.2_Silent_p.S1220S|ANK3_ENST00000503366.1_Silent_p.S1227S	p.S1226S	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		30	3869	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	1	1	hg19	c.3678A>G	CCDS7258.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_020987			70	67		339	333	1		1	1		0	0	79	0		1	9.946363e-01	0	9	0	32	0	70	339
ANK3	288	broad.mit.edu	37	10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1132	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			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						TGCAAAATACTGGGGGAAATC	0.443																																						ENST00000280772.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(3394-3396)cAg>cCg		ankyrin 3, node of Ranvier (ankyrin G)							115.0	117.0	116.0					10																	61848050		2203	4300	6503	SO:0001583	missense	288	0	0					g.chr10:61848050T>G	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.3395A>C	chr10.hg19:g.61848050T>G	ENSP00000280772:p.Gln1132Pro	0					ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P	p.Q1132P	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		29	3586	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	1	1	hg19	c.3395A>C	CCDS7258.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048615|4.048615	0.75846|0.75846	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348|ENST00000467420	T;T;T;T|.	0.74842|.	-0.21;-0.88;-0.88;-0.88|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.40064|.	N|.	0.001198|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.994;0.998;0.999;0.999;0.998;0.997;0.996|.	P;D;D;D;D;D;D|.	0.79784|.	0.885;0.99;0.993;0.979;0.986;0.947;0.979|.	T|T	0.81678|0.81678	-0.0824|-0.0824	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1133;266;665;1126;1132;367;266|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|R	1132;1126;266;266;1133;1112;367;767;767;265;665|190	ENSP00000280772:Q1132P;ENSP00000362933:Q1126P;ENSP00000347436:Q266P;ENSP00000425236:Q1133P|.	ENSP00000280772:Q1132P|.	Q|S	-|-	2|1	0|0	0|0	ANK3|ANK3	61518056|61518056	61518056|61518056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.676000|7.676000	0.84012|0.84012	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	0		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_020987			106	102		434	425	1		1	1		0	0	97	0		1	9.843752e-01	0	2	0	27	0	106	434
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1127	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			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						GAAATCTTTCGTGATAATCCT	0.433																																						ENST00000280772.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(3379-3381)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							108.0	109.0	109.0					10																	61848065		2203	4300	6503	SO:0001583	missense	288	0	0					g.chr10:61848065G>A	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.3380C>T	chr10.hg19:g.61848065G>A	ENSP00000280772:p.Thr1127Met	0					ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	p.T1127M	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		29	3571	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	1	1	hg19	c.3380C>T	CCDS7258.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	2|0	ANK3|ANK3	61518071|61518071	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_020987			87	84		392	390	1		1	0		0	0	92	0		1	9.461133e-01	0	1	0	23	0	87	392
ANK3	288	broad.mit.edu	37	10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000503366.1_Missense_Mutation_p.A193T|ANK3_ENST00000373827.2_Missense_Mutation_p.A204T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	210					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)			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						TCTTTTCGGGCCGCGATATGA	0.542																																						ENST00000280772.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(628-630)Gcc>Acc		ankyrin 3, node of Ranvier (ankyrin G)							112.0	95.0	101.0					10																	62023664		2203	4300	6503	SO:0001583	missense	288	0	0					g.chr10:62023664C>T	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.628G>A	chr10.hg19:g.62023664C>T	ENSP00000280772:p.Ala210Thr	0					ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	p.A210T	NM_020987.3	NP_066267.2	1	2	3	2.008551	Q12955	ANK3_HUMAN		6	819	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	1	1	hg19	c.628G>A	CCDS7258.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.353870	0.95830	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.72725	0.23;0.23;2.04;-0.68	5.18	5.18	0.71444	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001413	D	0.85418	0.5692	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.87025	0.2131	10	0.87932	D	0	.	18.879	0.92350	0.0:1.0:0.0:0.0	.	193;204;210	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	210;204;193;172;184	ENSP00000280772:A210T;ENSP00000362933:A204T;ENSP00000425236:A193T;ENSP00000426011:A184T	ENSP00000280772:A210T	A	-	1	0	0	ANK3	61693670	61693670	1.000000	0.71417	0.968000	0.41197	0.673000	0.39480	7.647000	0.83462	2.696000	0.92011	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_020987			66	63		225	222	1		1	1		0	0	52	0		1	9.983982e-01	0	13	0	23	0	66	225
RHOBTB1	9886	broad.mit.edu	37	10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	323	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)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502																																						ENST00000337910.5	1.000000	0.700000	1	8.200000e-01	0.960000	0.926375	0.960000	1.000000																										0				23						c.(967-969)Cgg>Tgg		Rho-related BTB domain containing 1							54.0	60.0	58.0					10																	62648459		2203	4299	6502	SO:0001583	missense	9886	2	121412	35				g.chr10:62648459G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.967C>T	chr10.hg19:g.62648459G>A	ENSP00000338671:p.Arg323Trp	0					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	1	2	3	2.008551	O94844	RHBT1_HUMAN		6	1304	-	Prostate(12;0.0112)			Missense_Mutation	SNP	ENST00000337910.5	1	1	hg19	c.967C>T	CCDS7261.1	1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130805	0.08981	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17528	2.27;2.27	5.91	2.84	0.33178	5.91	2.84	0.33178	BTB/POZ-like (2);BTB/POZ fold (1);	0.903634	0.09537	N	0.788737	T	0.20251	0.0487	M	0.73962	2.25	0.09310	N	0.999995	B	0.16802	0.019	B	0.12837	0.008	T	0.29212	-1.0019	10	0.59425	D	0.04	.	4.6453	0.12568	0.1802:0.0:0.5467:0.2731	.	323	O94844	RHBT1_HUMAN	W	323	ENSP00000350595:R323W;ENSP00000338671:R323W	ENSP00000338671:R323W	R	-	1	2	2	RHOBTB1	62318465	62318465	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.103000	0.15292	0.859000	0.35456	-0.384000	0.06662	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.142702	1	0.170000				43	42		496	481	0		1	1		0	0	75	0		1	9.660696e-01	0	2	0	63	0	43	496
RHOBTB1	9886	broad.mit.edu	37	10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H|RNU2-72P_ENST00000411175.1_RNA	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	94	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)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443																																						ENST00000337910.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				23						c.(280-282)cGc>cAc		Rho-related BTB domain containing 1							131.0	106.0	114.0					10																	62670660		2203	4300	6503	SO:0001583	missense	9886	1	121412	31				g.chr10:62670660C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.281G>A	chr10.hg19:g.62670660C>T	ENSP00000338671:p.Arg94His	0					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H|RNU2-72P_ENST00000411175.1_RNA	p.R94H	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	1	2	3	2.008551	O94844	RHBT1_HUMAN		4	618	-	Prostate(12;0.0112)			Missense_Mutation	SNP	ENST00000337910.5	1	1	hg19	c.281G>A	CCDS7261.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994195	0.93167	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.77229	-1.08;-1.08	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87654	0.2530	10	0.72032	D	0.01	.	20.1082	0.97900	0.0:1.0:0.0:0.0	.	94	O94844	RHBT1_HUMAN	H	94	ENSP00000350595:R94H;ENSP00000338671:R94H	ENSP00000338671:R94H	R	-	2	0	0	RHOBTB1	62340666	62340666	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.964000	0.70379	2.764000	0.94973	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000				35	34		182	175	1		1	1		0	0	54	0		1	8.860002e-01	0	2	0	20	0	35	182
C10orf107	219621	broad.mit.edu	37	10	63525708	63525708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383																																						ENST00000330194.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										0				8						c.(562-564)aaC>aaT		chromosome 10 open reading frame 107							74.0	71.0	72.0					10																	63525708		2203	4300	6503	SO:0001819	synonymous_variant	219621	0	0					g.chr10:63525708C>T	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.564C>T	chr10.hg19:g.63525708C>T		0						p.N188N	NM_173554.2	NP_775825.1	1	2	3	2.008551	Q8IVU9	CJ107_HUMAN		7	869	+	Prostate(12;0.016)		Q5T1B8	Silent	SNP	ENST00000330194.2	1	1	hg19	c.564C>T	CCDS7262.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_173554			29	29		166	160	1		1	0		0	0	48	0		1	2.882542e-01	0	0	0	7	0	29	166
ARID5B	84159	broad.mit.edu	37	10	63852705	63852705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1161					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCATAACAGCATTTACCCTT	0.483																																						ENST00000279873.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3481-3483)agC>agT		AT rich interactive domain 5B (MRF1-like)							136.0	138.0	137.0					10																	63852705		2203	4300	6503	SO:0001819	synonymous_variant	84159	0	0					g.chr10:63852705C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3483C>T	chr10.hg19:g.63852705C>T		0					ARID5B_ENST00000309334.5_Silent_p.S918S	p.S1161S	NM_032199.2	NP_115575.1	1	2	3	2.008551	Q14865	ARI5B_HUMAN		10	3893	+	Prostate(12;0.016)|all_hematologic(501;0.215)		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	1	1	hg19	c.3483C>T	CCDS31208.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	XM_084482			124	124		531	525	0		1	1		0	0	123	0		1	9.988522e-01	0	6	0	39	0	124	531
ZNF365	22891	broad.mit.edu	37	10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T	rs528809549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										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)					GGGGTTTGGCCGCAAAGGCAA	0.542																																						ENST00000395254.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1159-1161)Cgc>Tgc		zinc finger protein 365							58.0	57.0	58.0					10																	64159483		2203	4300	6503	SO:0001583	missense	22891	0	0					g.chr10:64159483C>T	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.1159C>T	chr10.hg19:g.64159483C>T	ENSP00000378674:p.Arg387Cys	0					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	p.R387C	NM_014951.2	NP_055766.2	1	2	3	2.008551	Q70YC4	TALAN_HUMAN		5	1439	+	Prostate(12;0.0297)|all_hematologic(501;0.228)			Missense_Mutation	SNP	ENST00000395254.3	1	1	hg19	c.1159C>T	CCDS31209.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508291	0.85282	.	.	ENSG00000138311	ENST00000395254	T	0.63417	-0.04	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:1.0:0.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	C	387	ENSP00000378674:R387C	ENSP00000378674:R387C	R	+	1	0	0	ZNF365	63829489	63829489	0.968000	0.33430	0.996000	0.52242	0.905000	0.53344	0.835000	0.27531	2.745000	0.94114	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_014951			71	70		299	292	0		1	0		0	0	89	0		1	5.418265e-01	0	0	0	9	0	71	299
ZNF365	22891	broad.mit.edu	37	10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	17										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)					tgctggaatacagagaggaac	0.463																																						ENST00000395251.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(49-51)aCa>aTa		zinc finger protein 365							145.0	147.0	146.0					10																	64414614		2203	4300	6503	SO:0001583	missense	22891	0	0					g.chr10:64414614C>T	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.50C>T	chr10.hg19:g.64414614C>T	ENSP00000378672:p.Thr17Ile	0					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	p.T17I	NM_199452.3	NP_955524	1	2	3	2.008551	Q70YC4	TALAN_HUMAN		3	384	+	Prostate(12;0.0297)|all_hematologic(501;0.228)			Missense_Mutation	SNP	ENST00000395251.1	1	1	hg19	c.50C>T	CCDS7265.1	1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542565	0.04053	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	1.95	-0.14	0.13456	1.95	-0.14	0.13456	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.19614	-1.0300	9	0.87932	D	0	.	3.9428	0.09334	0.0:0.5105:0.0:0.4895	.	17	Q70YC4	TALAN_HUMAN	I	17	ENSP00000378672:T17I	ENSP00000345300:T17I	T	+	2	0	0	ZNF365	64084620	64084620	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.960000	0.29253	-0.031000	0.13781	0.462000	0.41574	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_014951			118	114		520	505	1		1			0	0	106	0		1	0	0	0	0	0	0	118	520
EGR2	1959	broad.mit.edu	37	10	64573594	64573594	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.I218I|EGR2_ENST00000439032.1_Silent_p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	268			I -> N (in CHN). {ECO:0000269|PubMed:9537424}.		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)			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)					TAAAGTTACGGATTGTAGAGA	0.652																																						ENST00000242480.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(802-804)atC>atA		early growth response 2							27.0	31.0	30.0					10																	64573594		2196	4289	6485	SO:0001819	synonymous_variant	1959	0	0					g.chr10:64573594G>T	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.804C>A	chr10.hg19:g.64573594G>T		0					EGR2_ENST00000411732.1_Silent_p.I218I|EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000493899.2_5'Flank	p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	1	2	3	2.008551	P11161	EGR2_HUMAN		2	1129	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	1	1	hg19	c.804C>A	CCDS7267.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_000399			54	54		292	283	1		1	0		0	0	58	0		1	9.999138e-01	0	0	0	77	0	54	292
EGR2	1959	broad.mit.edu	37	10	64573855	64573855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.L131L|EGR2_ENST00000439032.1_Silent_p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	181					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)			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)					GGTCCTGGTAGAGGTCTCCTG	0.627																																						ENST00000242480.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(541-543)ctC>ctT		early growth response 2							84.0	86.0	85.0					10																	64573855		2203	4300	6503	SO:0001819	synonymous_variant	1959	0	0					g.chr10:64573855G>A	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.543C>T	chr10.hg19:g.64573855G>A		0					EGR2_ENST00000411732.1_Silent_p.L131L|EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000493899.2_5'Flank	p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	1	2	3	2.008551	P11161	EGR2_HUMAN		2	868	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	1	1	hg19	c.543C>T	CCDS7267.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	0		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_000399			116	112		437	429	1		1	0		0	0	98	0		1	1	0	0	0	154	0	116	437
EGR2	1959	broad.mit.edu	37	10	64573870	64573870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.G126G|EGR2_ENST00000439032.1_Silent_p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	176					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)			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)					CTCCTGCACAGCCAGAATAAG	0.622																																						ENST00000242480.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(526-528)ggC>ggA		early growth response 2							79.0	82.0	81.0					10																	64573870		2203	4300	6503	SO:0001819	synonymous_variant	1959	0	0					g.chr10:64573870G>T	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.528C>A	chr10.hg19:g.64573870G>T		0					EGR2_ENST00000411732.1_Silent_p.G126G|EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000493899.2_5'Flank	p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	1	2	3	2.008551	P11161	EGR2_HUMAN		2	853	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	1	1	hg19	c.528C>A	CCDS7267.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	0		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_000399			113	109		425	415	1		1	0		0	0	91	0		1	1	0	0	0	165	0	113	425
JMJD1C	221037	broad.mit.edu	37	10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2365	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383																																						ENST00000399262.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				77						c.(7093-7095)aaG>aaT		jumonji domain containing 1C							95.0	87.0	89.0					10																	64937606		1828	4077	5905	SO:0001583	missense	221037	0	0					g.chr10:64937606C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7095G>T	chr10.hg19:g.64937606C>A	ENSP00000382204:p.Lys2365Asn	0					JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	p.K2365N	NM_032776.1	NP_116165.1	1	2	3	2.008551	Q15652	JHD2C_HUMAN		23	7313	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	1	1	hg19	c.7095G>T	CCDS41532.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077728|4.077728	0.76528|0.76528	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.58940|.	0.64;0.3;0.64|.	6.05|6.05	5.15|5.15	0.70609|0.70609	6.05|6.05	5.15|5.15	0.70609|0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68393|0.68393	0.2996|0.2996	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.367|.	D;D;B|.	0.91635|.	0.999;0.999;0.35|.	T|T	0.66842|0.66842	-0.5821|-0.5821	10|5	0.72032|.	D|.	0.01|.	-14.9126|-14.9126	14.7894|14.7894	0.69827|0.69827	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	2183;2365;2183|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	2365;2128;2183|912	ENSP00000382204:K2365N;ENSP00000384990:K2128N;ENSP00000444682:K2183N|.	ENSP00000382204:K2365N|.	K|R	-|-	3|2	2|0	2|0	JMJD1C|JMJD1C	64607612|64607612	64607612|64607612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.768000|1.768000	0.38511|0.38511	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	AAG|AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_004241			29	28		115	113	1		1	1		0	0	33	0		1	1	0	32	0	108	0	29	115
JMJD1C	221037	broad.mit.edu	37	10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373																																						ENST00000399262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3280-3282)Ttc>Ctc		jumonji domain containing 1C							194.0	184.0	187.0					10																	64968149		1879	4098	5977	SO:0001583	missense	221037	0	0					g.chr10:64968149A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3280T>C	chr10.hg19:g.64968149A>G	ENSP00000382204:p.Phe1094Leu	0					JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	p.F1094L	NM_032776.1	NP_116165.1	1	2	3	2.008551	Q15652	JHD2C_HUMAN		10	3498	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	1	1	hg19	c.3280T>C	CCDS41532.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124391	0.77436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.64085	0.27;-0.08;1.75;0.27	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.62723	1.935	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58970	0.804;0.849;0.849	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.319	15.7575	0.78046	1.0:0.0:0.0:0.0	.	635;1094;912	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	L	1094;875;875;912	ENSP00000382204:F1094L;ENSP00000384990:F875L;ENSP00000382195:F875L;ENSP00000444682:F912L	ENSP00000382195:F875L	F	-	1	0	0	JMJD1C	64638155	64638155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.118000	0.64928	0.460000	0.39030	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_004241			207	203		791	778	1		1	1		0	0	191	0		1	9.999745e-01	0	10	0	49	0	207	791
JMJD1C	221037	broad.mit.edu	37	10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1020					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408																																						ENST00000399262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3058-3060)gaG>gaT		jumonji domain containing 1C							213.0	198.0	203.0					10																	64968369		1893	4115	6008	SO:0001583	missense	221037	0	0					g.chr10:64968369C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3060G>T	chr10.hg19:g.64968369C>A	ENSP00000382204:p.Glu1020Asp	0					JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	p.E1020D	NM_032776.1	NP_116165.1	1	2	3	2.008551	Q15652	JHD2C_HUMAN		10	3278	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	1	1	hg19	c.3060G>T	CCDS41532.1	1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000484	0.54147	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.69435	-0.06;-0.4;1.38;-0.05	5.9	2.62	0.31277	5.9	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.64997	1.995	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73353	-0.4009	10	0.52906	T	0.07	-15.4301	9.7959	0.40735	0.0:0.6749:0.0:0.3251	.	561;1020;838	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1020;801;801;838	ENSP00000382204:E1020D;ENSP00000384990:E801D;ENSP00000382195:E801D;ENSP00000444682:E838D	ENSP00000382195:E801D	E	-	3	2	2	JMJD1C	64638375	64638375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.424000	0.34848	0.228000	0.21019	0.563000	0.77884	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	0	0	1		19	3	2	1		1	1	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_004241			156	156		716	701	1		1	1		1	0	151	0		1	9.922157e-01	0	11	0	35	0	156	716
JMJD1C	221037	broad.mit.edu	37	10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	236					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328																																						ENST00000399262.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				77						c.(706-708)tCt>tTt		jumonji domain containing 1C							59.0	52.0	54.0					10																	64975428		1869	4102	5971	SO:0001583	missense	221037	0	0					g.chr10:64975428G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.707C>T	chr10.hg19:g.64975428G>A	ENSP00000382204:p.Ser236Phe	0					JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	p.S236F	NM_032776.1	NP_116165.1	1	2	3	2.008551	Q15652	JHD2C_HUMAN		6	925	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	1	1	hg19	c.707C>T	CCDS41532.1	1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793804	0.70452	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.28	4.37	0.52481	5.28	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.47245	D	0.999368	B;B	0.23990	0.095;0.067	B;B	0.21917	0.037;0.03	T	0.05937	-1.0855	10	0.46703	T	0.11	-4.9331	15.9854	0.80147	0.0:0.1349:0.8651:0.0	.	236;54	Q15652;A0T124	JHD2C_HUMAN;.	F	236;17;17;54	ENSP00000382204:S236F;ENSP00000384990:S17F;ENSP00000382195:S17F;ENSP00000444682:S54F	ENSP00000382195:S17F	S	-	2	0	0	JMJD1C	64645434	64645434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.218000	0.43458	0.655000	0.94253	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_004241			30	30		126	126	1		1	1		0	0	24	0		1	9.918175e-01	0	8	0	27	0	30	126
JMJD1C	221037	broad.mit.edu	37	10	65225411	65225411	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C-AS1_ENST00000609436.1_RNA|JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	4					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677																																						ENST00000399262.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999204	0.990000	1.000000																										0				77						c.(10-12)gaG>gaA		jumonji domain containing 1C							20.0	27.0	24.0					10																	65225411		2170	4264	6434	SO:0001819	synonymous_variant	221037	0	0					g.chr10:65225411C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.12G>A	chr10.hg19:g.65225411C>T		0					JMJD1C_ENST00000399251.1_5'UTR|JMJD1C-AS1_ENST00000609436.1_RNA	p.E4E	NM_032776.1	NP_116165.1	1	2	3	2.008551	Q15652	JHD2C_HUMAN		1	230	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	1	1	hg19	c.12G>A	CCDS41532.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_004241			26	26		171	167	0		1	0		0	0	41	0		9.999999e-01	1.921746e-01	0	1	0	5	0	26	171
CTNNA3	29119	broad.mit.edu	37	10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											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						CTCTGGCTTCTCTCTTTTAAT	0.468																																						ENST00000433211.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(2584-2586)gAg>gGg		catenin (cadherin-associated protein), alpha 3							107.0	110.0	109.0					10																	67680191		2203	4300	6503	SO:0001583	missense	29119	0	0					g.chr10:67680191T>C	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.2585A>G	chr10.hg19:g.67680191T>C	ENSP00000389714:p.Glu862Gly	0					CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	p.E862G	NM_013266.2	NP_037398.2	1	2	3	2.008551				18	2759	-				Missense_Mutation	SNP	ENST00000433211.2	1	1	hg19	c.2585A>G	CCDS7269.1	1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951743	0.92660	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.51325	1.3;1.3;0.71	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000019	T	0.66327	0.2778	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.68405	-0.5417	10	0.59425	D	0.04	-23.3476	14.3151	0.66443	0.0:0.0:0.0:1.0	.	862	Q9UI47	CTNA3_HUMAN	G	862;862;201	ENSP00000389714:E862G;ENSP00000362849:E862G;ENSP00000362840:E201G	ENSP00000362840:E201G	E	-	2	0	0	CTNNA3	67350197	67350197	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_013266			127	123		505	492	1		1	0		0	0	118	0		1	4.101443e-02	0	0	0	2	0	127	505
LRRTM3	347731	broad.mit.edu	37	10	68686696	68686696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	8					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403																																						ENST00000361320.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(22-24)Cta>Tta		leucine rich repeat transmembrane neuronal 3							63.0	59.0	61.0					10																	68686696		2203	4300	6503	SO:0001819	synonymous_variant	347731	0	0					g.chr10:68686696C>T	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.22C>T	chr10.hg19:g.68686696C>T		0					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	p.L8L	NM_178011.3	NP_821079.3	1	2	3	2.008551	Q86VH5	LRRT3_HUMAN		2	600	+			A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	1	1	hg19	c.22C>T	CCDS7270.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_178011			46	44		161	161	0		1	0		0	0	35	0		1	1.280968e-01	0	0	0	3	0	46	161
LRRTM3	347731	broad.mit.edu	37	10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	69					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398																																						ENST00000361320.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(205-207)cGc>cAc		leucine rich repeat transmembrane neuronal 3							109.0	114.0	113.0					10																	68686880		2203	4300	6503	SO:0001583	missense	347731	0	0					g.chr10:68686880G>A	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.206G>A	chr10.hg19:g.68686880G>A	ENSP00000355187:p.Arg69His	0					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	p.R69H	NM_178011.3	NP_821079.3	1	2	3	2.008551	Q86VH5	LRRT3_HUMAN		2	784	+			A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	1	1	hg19	c.206G>A	CCDS7270.1	1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621851	0.66787	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.58797	0.31	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.65270	0.2675	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	T	0.64859	-0.6308	10	0.39692	T	0.17	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	69;69	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	69	ENSP00000355187:R69H	ENSP00000355187:R69H	R	+	2	0	0	LRRTM3	68356886	68356886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_178011			94	93		368	362	1		1	0		0	0	76	0		1	0	0	0	0	1	0	94	368
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453																																						ENST00000361320.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(625-627)Gaa>Aaa		leucine rich repeat transmembrane neuronal 3							100.0	102.0	101.0					10																	68687299		2203	4300	6503	SO:0001583	missense	347731	0	0					g.chr10:68687299G>A	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.625G>A	chr10.hg19:g.68687299G>A	ENSP00000355187:p.Glu209Lys	0					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	p.E209K	NM_178011.3	NP_821079.3	1	2	3	2.008551	Q86VH5	LRRT3_HUMAN		2	1203	+			A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	1	1	hg19	c.625G>A	CCDS7270.1	1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798719	0.70567	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	T	0.67429	0.2892	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	209;209	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	209	ENSP00000355187:E209K	ENSP00000355187:E209K	E	+	1	0	0	LRRTM3	68357305	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000	NM_178011			87	86		512	505	1		1	0		0	0	114	0		1	4.415021e-01	0	0	0	10	0	87	512
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											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						ACTTTCTTTGCGAACTTCCTC	0.423																																						ENST00000433211.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(283-285)cGc>cAc		catenin (cadherin-associated protein), alpha 3							113.0	115.0	114.0					10																	69366623		2203	4300	6503	SO:0001583	missense	29119	3	121412	35				g.chr10:69366623C>T	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.284G>A	chr10.hg19:g.69366623C>T	ENSP00000389714:p.Arg95His	0					CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	p.R95H	NM_013266.2	NP_037398.2	1	2	3	2.008551				3	458	-				Missense_Mutation	SNP	ENST00000433211.2	1	1	hg19	c.284G>A	CCDS7269.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	0	CTNNA3	69036629	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_013266			70	65		372	365	1		1			0	0	67	0		1	0	0	0	0	0	0	70	372
SIRT1	23411	broad.mit.edu	37	10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	273	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)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383																																						ENST00000212015.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(817-819)tTc>tCc		sirtuin 1							191.0	182.0	185.0					10																	69651188		2203	4300	6503	SO:0001583	missense	23411	0	0					g.chr10:69651188T>C	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.818T>C	chr10.hg19:g.69651188T>C	ENSP00000212015:p.Phe273Ser	0					SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000497639.1_3'UTR	p.F273S	NM_012238.4	NP_036370.2	1	2	3	2.008551	Q96EB6	SIR1_HUMAN		4	871	+			Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	1	1	hg19	c.818T>C	CCDS7273.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804013	0.90623	.	.	ENSG00000096717	ENST00000212015	T	0.43294	0.95	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	-8.5998	14.4334	0.67266	0.0:0.0:0.0:1.0	.	273	Q96EB6	SIRT1_HUMAN	S	273	ENSP00000212015:F273S	ENSP00000212015:F273S	F	+	2	0	0	SIRT1	69321194	69321194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.064000	0.61679	0.455000	0.32223	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000				136	133		636	625	1		1	1		0	0	134	0		1	9.994479e-01	0	7	0	46	0	136	636
MYPN	84665	broad.mit.edu	37	10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T	rs367570424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	597					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)			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						GATTGGGCTTCGTGTGCACTT	0.572																																						ENST00000358913.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(1789-1791)Cgt>Tgt		myopalladin		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73.0	63.0	66.0		1789	5.3	1.0	10		66	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	597/1321	69926239	2,13004	2203	4300	6503	SO:0001583	missense	84665	1	121412	32				g.chr10:69926239C>T	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.1789C>T	chr10.hg19:g.69926239C>T	ENSP00000351790:p.Arg597Cys	0					MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	p.R597C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	1	2	3	2.008551	Q86TC9	MYPN_HUMAN		10	2277	+			Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	1	1	hg19	c.1789C>T	CCDS7275.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386227	0.82902	4.54E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59364	0.27;0.29;0.27	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66196	0.897;0.942;0.877	T	0.70528	-0.4847	9	.	.	.	.	13.8632	0.63573	0.1526:0.8474:0.0:0.0	.	597;322;597	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	322;322;597;597	ENSP00000346369:R322C;ENSP00000351790:R597C;ENSP00000441668:R597C	.	R	+	1	0	0	MYPN	69596245	69596245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.080000	0.57620	2.455000	0.83008	0.655000	0.94253	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_032578			60	60		209	204	1		1			0	0	54	0		1	0	0	0	0	0	0	60	209
MYPN	84665	broad.mit.edu	37	10	69966658	69966658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	ENST00000358913.5	+	19	4279	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1264	Interaction with ACTN.				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)			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						CTGGATATATACGGTAAGTGT	0.448																																						ENST00000358913.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(3790-3792)tAc>tGc		myopalladin							93.0	87.0	89.0					10																	69966658		2203	4300	6503	SO:0001583	missense	84665	0	0					g.chr10:69966658A>G	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.3791A>G	chr10.hg19:g.69966658A>G	ENSP00000351790:p.Tyr1264Cys	0					MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	p.Y1264C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	1	2	3	2.008551	Q86TC9	MYPN_HUMAN		19	4279	+			Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	1	1	hg19	c.3791A>G	CCDS7275.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328369	0.81690	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.74002	-0.8;-0.8;-0.8	5.65	5.65	0.86999	5.65	5.65	0.86999	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83450	0.0048	9	.	.	.	.	15.8643	0.79052	1.0:0.0:0.0:0.0	.	1264;989;1264	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	989;989;1264;1264	ENSP00000346369:Y989C;ENSP00000351790:Y1264C;ENSP00000441668:Y1264C	.	Y	+	2	0	0	MYPN	69636664	69636664	1.000000	0.71417	0.990000	0.47175	0.815000	0.46073	9.339000	0.96797	2.152000	0.67230	0.402000	0.26972	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	0	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-20.000000	1	0.170000	NM_032578			71	70		236	234	0		1			0	0	66	0		1	0	0	0	0	0	0	71	236
ATOH7	220202	broad.mit.edu	37	10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	87	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CATGATGTAGCTCAGGGCCAT	0.637																																						ENST00000373673.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.991901	0.990000	1.000000																										0										c.(259-261)aGc>aTc		atonal homolog 7 (Drosophila)							57.0	55.0	55.0					10																	69991175		2203	4300	6503	SO:0001583	missense	220202	0	0					g.chr10:69991175C>A	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.260G>T	chr10.hg19:g.69991175C>A	ENSP00000362777:p.Ser87Ile	0					RP11-153K11.3_ENST00000444086.1_lincRNA	p.S87I	NM_145178.3	NP_660161.1	1	2	3	2.008551	Q8N100	ATOH7_HUMAN		1	696	-				Missense_Mutation	SNP	ENST00000373673.3	1	1	hg19	c.260G>T	CCDS7276.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824458	0.90955	.	.	ENSG00000179774	ENST00000373673	D	0.97976	-4.64	4.86	4.86	0.63082	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.38733	1.17	0.80722	D	1	P	0.39535	0.677	P	0.46479	0.518	D	0.95889	0.8905	9	.	.	.	-5.8489	17.9986	0.89192	0.0:1.0:0.0:0.0	.	87	Q8N100	ATOH7_HUMAN	I	87	ENSP00000362777:S87I	.	S	-	2	0	0	ATOH7	69661181	69661181	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.902000	0.63266	2.240000	0.73641	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				18	18		137	135	1		1			0	0	41	0		9.999858e-01	0	0	0	0	0	0	18	137
HNRNPH3	3189	broad.mit.edu	37	10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	319	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363																																						ENST00000265866.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(955-957)gGt>gAt		heterogeneous nuclear ribonucleoprotein H3 (2H9)							184.0	157.0	166.0					10																	70101600		2203	4300	6503	SO:0001583	missense	3189	0	0					g.chr10:70101600G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.956G>A	chr10.hg19:g.70101600G>A	ENSP00000265866:p.Gly319Asp	0					HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D	p.G319D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	1	2	3	2.008551	P31942	HNRH3_HUMAN		9	1121	+			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	1	1	hg19	c.956G>A	CCDS7278.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741177	0.49151	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15487	2.78;2.42;2.58	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.096984	0.64402	D	0.000001	T	0.39332	0.1074	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.02208	-1.1195	10	0.46703	T	0.11	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	211;304;319	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	D	319;211;304	ENSP00000265866:G319D;ENSP00000409869:G211D;ENSP00000346726:G304D	ENSP00000265866:G319D	G	+	2	0	0	HNRNPH3	69771606	69771606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.188000	0.89710	2.653000	0.90120	0.563000	0.77884	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				74	70		363	354	1		1	1		0	0	59	0		1	1	0	72	0	295	0	74	363
DNA2	1763	broad.mit.edu	37	10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000358410.3	-	15	2406	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.G872W	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	786	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408																																						ENST00000358410.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2356-2358)Ggg>Tgg		DNA replication helicase/nuclease 2							36.0	36.0	36.0					10																	70182500		1827	4076	5903	SO:0001583	missense	1763	0	0					g.chr10:70182500C>A	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.2356G>T	chr10.hg19:g.70182500C>A	ENSP00000351185:p.Gly786Trp	0					DNA2_ENST00000399180.2_Missense_Mutation_p.G872W|DNA2_ENST00000399179.2_Intron	p.G786W	NM_001080449.2	NP_001073918.2	1	2	3	2.008551	P51530	DNA2_HUMAN		15	2406	-			Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	1	1	hg19	c.2356G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109622|4.109622	0.77096|0.77096	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.99578	.|-6.21;-6.21	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.107348|0.107348	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.99816|0.99816	0.9919|0.9919	H|H	0.99211|0.99211	4.47|4.47	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96968|0.96968	0.9706|0.9706	6|10	.|0.87932	.|D	.|0	.|.	13.0117|13.0117	0.58735|0.58735	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|786	.|P51530	.|DNA2L_HUMAN	V|W	107|872;786	.|ENSP00000382133:G872W;ENSP00000351185:G786W	.|ENSP00000351185:G786W	G|G	-|-	2|1	0|0	0|0	DNA2|DNA2	69852506|69852506	69852506|69852506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.622000|7.622000	0.83099|0.83099	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGG|GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-3.649441	1	0.170000				42	42		156	155	1		1	0		0	0	42	0		1	1.191366e-01	0	0	0	3	0	42	156
DNA2	1763	broad.mit.edu	37	10	70196900	70196900	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70196900C>T	ENST00000358410.3	-	10	1564	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000399180.2_Missense_Mutation_p.G591D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	505	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGGTATGGCACCATGTTTACA	0.388																																						ENST00000358410.3	1.000000	0.120000	3.400000e-01	1.700000e-01	0.230000	0.302165	0.230000	0.230000																										0				20						c.(1513-1515)gGt>gAt		DNA replication helicase/nuclease 2							181.0	171.0	174.0					10																	70196900		1880	4115	5995	SO:0001583	missense	1763	0	0					g.chr10:70196900C>T	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.1514G>A	chr10.hg19:g.70196900C>T	ENSP00000351185:p.Gly505Asp	0					DNA2_ENST00000399180.2_Missense_Mutation_p.G591D|DNA2_ENST00000399179.2_Missense_Mutation_p.G505D	p.G505D	NM_001080449.2	NP_001073918.2	1	2	3	2.008551	P51530	DNA2_HUMAN		10	1564	-			Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	0	1	hg19	c.1514G>A		0	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493986	0.84962	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94046	-2.82;-3.34;-2.8	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.174839	0.51477	D	0.000090	D	0.95981	0.8691	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	D	0.93763	0.7068	10	0.12103	T	0.63	.	19.1874	0.93649	0.0:1.0:0.0:0.0	.	505;505	F8VR31;P51530	.;DNA2L_HUMAN	D	505;591;505;505	ENSP00000382133:G591D;ENSP00000382132:G505D;ENSP00000351185:G505D	ENSP00000351185:G505D	G	-	2	0	0	DNA2	69866906	69866906	1.000000	0.71417	0.988000	0.46212	0.734000	0.41952	5.150000	0.64869	2.522000	0.85027	0.557000	0.71058	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2	0	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-2.866970	1	0.170000				12	12		622	614	0		1	0		0	0	139	0		9.990440e-01	8.695537e-03	0	0	0	7	0	12	622
SLC25A16	8034	broad.mit.edu	37	10	70248346	70248346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	217					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)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373																																						ENST00000609923.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				7						c.(649-651)ggG>ggA		solute carrier family 25 (mitochondrial carrier), member 16							78.0	72.0	74.0					10																	70248346		2203	4300	6503	SO:0001819	synonymous_variant	8034	0	0					g.chr10:70248346C>T	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.651G>A	chr10.hg19:g.70248346C>T		0					SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	p.G217G	NM_152707.3	NP_689920.1	1	2	3	2.008551	P16260	GDC_HUMAN		7	749	-			Q8N2U1	Silent	SNP	ENST00000609923.1	1	1	hg19	c.651G>A	CCDS7280.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				34	34		164	158	1		1	1		0	0	37	0		1	9.972210e-01	0	16	0	31	0	34	164
TET1	80312	broad.mit.edu	37	10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	212					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478																																						ENST00000373644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(634-636)gaG>gaT		tet methylcytosine dioxygenase 1							49.0	46.0	47.0					10																	70332731		2203	4300	6503	SO:0001583	missense	80312	0	0					g.chr10:70332731G>T	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.636G>T	chr10.hg19:g.70332731G>T	ENSP00000362748:p.Glu212Asp	0						p.E212D	NM_030625.2	NP_085128.2	1	2	3	2.008551	Q8NFU7	TET1_HUMAN		2	845	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	1	1	hg19	c.636G>T	CCDS7281.1	1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491651	0.26774	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.53	2.11	0.27256	5.53	2.11	0.27256	.	1.368980	0.04955	N	0.461030	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.41680	-0.9495	10	0.22706	T	0.39	.	2.4407	0.04493	0.177:0.2657:0.4217:0.1356	.	212	Q8NFU7	TET1_HUMAN	D	212	ENSP00000362748:E212D	ENSP00000362748:E212D	E	+	3	2	2	TET1	70002737	70002737	0.000000	0.05858	0.018000	0.16275	0.547000	0.35210	0.145000	0.16157	0.643000	0.30638	0.563000	0.77884	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_030625			64	64		258	255	1		1			0	0	56	0		1	0	0	0	0	0	0	64	258
TET1	80312	broad.mit.edu	37	10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	465					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438																																						ENST00000373644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1393-1395)gCt>gAt		tet methylcytosine dioxygenase 1							65.0	58.0	60.0					10																	70333489		2203	4300	6503	SO:0001583	missense	80312	0	0					g.chr10:70333489C>A	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.1394C>A	chr10.hg19:g.70333489C>A	ENSP00000362748:p.Ala465Asp	0						p.A465D	NM_030625.2	NP_085128.2	1	2	3	2.008551	Q8NFU7	TET1_HUMAN		2	1603	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	1	1	hg19	c.1394C>A	CCDS7281.1	1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001149	0.54254	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.477138	0.17509	N	0.171717	T	0.08626	0.0214	L	0.27053	0.805	0.34570	D	0.713337	B	0.32031	0.352	B	0.27170	0.077	T	0.14090	-1.0485	10	0.87932	D	0	.	11.5003	0.50433	0.1919:0.8081:0.0:0.0	.	465	Q8NFU7	TET1_HUMAN	D	465	ENSP00000362748:A465D	ENSP00000362748:A465D	A	+	2	0	0	TET1	70003495	70003495	0.946000	0.32159	0.926000	0.36857	0.973000	0.67179	1.306000	0.33505	2.421000	0.82119	0.305000	0.20034	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_030625			79	78		250	248	1		1			0	0	46	0		1	0	0	0	0	0	0	79	250
TET1	80312	broad.mit.edu	37	10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1180					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378																																						ENST00000373644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(3538-3540)tCc>tTc		tet methylcytosine dioxygenase 1							75.0	77.0	77.0					10																	70406025		2203	4300	6503	SO:0001583	missense	80312	0	0					g.chr10:70406025C>T	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.3539C>T	chr10.hg19:g.70406025C>T	ENSP00000362748:p.Ser1180Phe	0						p.S1180F	NM_030625.2	NP_085128.2	1	2	3	2.008551	Q8NFU7	TET1_HUMAN		4	3748	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	1	1	hg19	c.3539C>T	CCDS7281.1	1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325739	0.24080	.	.	ENSG00000138336	ENST00000373644	T	0.08634	3.07	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.827937	0.10311	N	0.689957	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	P	0.52316	0.952	P	0.54460	0.753	T	0.34775	-0.9815	10	0.72032	D	0.01	.	15.7318	0.77810	0.0:1.0:0.0:0.0	.	1180	Q8NFU7	TET1_HUMAN	F	1180	ENSP00000362748:S1180F	ENSP00000362748:S1180F	S	+	2	0	0	TET1	70076031	70076031	0.790000	0.28787	0.039000	0.18376	0.008000	0.06430	4.544000	0.60691	2.394000	0.81467	0.563000	0.77884	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.341625	1	0.170000	NM_030625			69	69		343	338	1		1	0		0	0	101	0		1	1.361400e-01	0	1	0	3	0	69	343
TET1	80312	broad.mit.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488																																						ENST00000373644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(4594-4596)cGg>cAg		tet methylcytosine dioxygenase 1							96.0	79.0	85.0					10																	70426935		2203	4300	6503	SO:0001583	missense	80312	2	121412	31				g.chr10:70426935G>A	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.4595G>A	chr10.hg19:g.70426935G>A	ENSP00000362748:p.Arg1532Gln	0						p.R1532Q	NM_030625.2	NP_085128.2	1	2	3	2.008551	Q8NFU7	TET1_HUMAN		7	4804	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	1	1	hg19	c.4595G>A	CCDS7281.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	0	TET1	70096941	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_030625			39	38		110	109	1		1	0		0	0	37	0		1	0	0	0	0	1	0	39	110
TET1	80312	broad.mit.edu	37	10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1832					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478																																						ENST00000373644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(5494-5496)tCg>tTg		tet methylcytosine dioxygenase 1							95.0	96.0	96.0					10																	70450655		2203	4300	6503	SO:0001583	missense	80312	2	121412	34				g.chr10:70450655C>T	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.5495C>T	chr10.hg19:g.70450655C>T	ENSP00000362748:p.Ser1832Leu	0						p.S1832L	NM_030625.2	NP_085128.2	1	2	3	2.008551	Q8NFU7	TET1_HUMAN		12	5704	+			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	1	1	hg19	c.5495C>T	CCDS7281.1	1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751989	0.69533	.	.	ENSG00000138336	ENST00000373644	T	0.09817	2.94	5.22	4.28	0.50868	5.22	4.28	0.50868	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.198170	0.01460	U	0.015833	T	0.30541	0.0768	M	0.73217	2.22	0.30325	N	0.787173	D	0.71674	0.998	P	0.55161	0.77	T	0.03249	-1.1056	10	0.87932	D	0	.	10.711	0.45984	0.0:0.9064:0.0:0.0936	.	1832	Q8NFU7	TET1_HUMAN	L	1832	ENSP00000362748:S1832L	ENSP00000362748:S1832L	S	+	2	0	0	TET1	70120661	70120661	0.957000	0.32711	0.121000	0.21740	0.847000	0.48162	2.761000	0.47589	1.121000	0.41925	0.655000	0.94253	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.494675	1	0.170000	NM_030625			126	121		528	516	1		1	0		0	0	113	0		1	2.500089e-01	0	0	0	5	0	126	528
CCAR1	55749	broad.mit.edu	37	10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H|CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H	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	284					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)			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						CCTCCTGTTCGTATAGTTTCA	0.408																																						ENST00000265872.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(850-852)cGt>cAt		cell division cycle and apoptosis regulator 1							66.0	66.0	66.0					10																	70508917		2203	4300	6503	SO:0001583	missense	55749	0	0					g.chr10:70508917G>A	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.851G>A	chr10.hg19:g.70508917G>A	ENSP00000265872:p.Arg284His	0					CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H|CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H	p.R284H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	1	2	3	2.008551	Q8IX12	CCAR1_HUMAN		9	970	+			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	1	1	hg19	c.851G>A	CCDS7282.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612691	0.87258	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;1.77;1.77;1.76;1.8;1.77	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51261	0.1664	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.984;0.987;0.994	T	0.48768	-0.9006	10	0.56958	D	0.05	-9.1222	19.2324	0.93845	0.0:0.0:1.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	284;269;269;269;258;89	ENSP00000265872:R284H;ENSP00000441820:R269H;ENSP00000445254:R269H;ENSP00000439252:R269H;ENSP00000438610:R258H;ENSP00000439642:R89H	ENSP00000265872:R284H	R	+	2	0	0	CCAR1	70178923	70178923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.524000	0.85096	0.650000	0.86243	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.332798	1	0.170000	NM_018237			70	69		357	351	1		1	1		0	0	62	0		1	1	0	4	0	144	0	70	357
CCAR1	55749	broad.mit.edu	37	10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L	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	507					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)			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						TGGTCTCCTTCGTTGGATGGA	0.428																																						ENST00000265872.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1519-1521)tCg>tTg		cell division cycle and apoptosis regulator 1							178.0	175.0	176.0					10																	70515188		2203	4300	6503	SO:0001583	missense	55749	0	0					g.chr10:70515188C>T	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.1520C>T	chr10.hg19:g.70515188C>T	ENSP00000265872:p.Ser507Leu	0					CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR	p.S507L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	1	2	3	2.008551	Q8IX12	CCAR1_HUMAN		13	1639	+			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	1	1	hg19	c.1520C>T	CCDS7282.1	1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217857	0.58560	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.063959	0.64402	D	0.000004	T	0.74275	0.3695	M	0.84433	2.695	0.80722	D	1	P;P;D	0.89917	0.472;0.528;1.0	B;B;D	0.87578	0.141;0.221;0.998	T	0.77635	-0.2514	10	0.87932	D	0	-1.9755	19.8722	0.96854	0.0:1.0:0.0:0.0	.	492;507;481	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	507;492;492;492;481;312	ENSP00000265872:S507L;ENSP00000441820:S492L;ENSP00000445254:S492L;ENSP00000439252:S492L;ENSP00000438610:S481L;ENSP00000439642:S312L	ENSP00000265872:S507L	S	+	2	0	0	CCAR1	70185194	70185194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.700000	0.92200	0.585000	0.79938	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-3.301110	1	0.170000	NM_018237			102	101		421	417	1		1	1		0	0	104	0		1	1	0	62	0	56	0	102	421
STOX1	219736	broad.mit.edu	37	10	70644062	70644062	+	Silent	SNP	G	G	A	rs373698908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T|STOX1_ENST00000399169.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	170						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333																																						ENST00000298596.6	1.000000	0.600000	1	7.100000e-01	0.840000	0.849679	0.840000	1.000000																										0				28						c.(508-510)acG>acA		storkhead box 1							96.0	89.0	91.0					10																	70644062		1876	4120	5996	SO:0001819	synonymous_variant	219736	0	0					g.chr10:70644062G>A	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.510G>A	chr10.hg19:g.70644062G>A		0					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T|STOX1_ENST00000399169.4_Silent_p.T170T	p.T170T	NM_152709.4	NP_689922.3	1	2	3	2.008551	Q6ZVD7	STOX1_HUMAN		3	593	+			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	1	1	hg19	c.510G>A	CCDS41535.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.142702	1	0.170000	NM_152709			39	40		516	506	0		1	0		0	0	81	0		1	2.857932e-02	0	1	0	3	0	39	516
STOX1	219736	broad.mit.edu	37	10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	474						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453																																						ENST00000298596.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1420-1422)aAa>aCa		storkhead box 1							74.0	75.0	75.0					10																	70644973		1881	4093	5974	SO:0001583	missense	219736	0	0					g.chr10:70644973A>C	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.1421A>C	chr10.hg19:g.70644973A>C	ENSP00000298596:p.Lys474Thr	0					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T	p.K474T	NM_152709.4	NP_689922.3	1	2	3	2.008551	Q6ZVD7	STOX1_HUMAN		3	1504	+			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	1	1	hg19	c.1421A>C	CCDS41535.1	1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980775	0.02197	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.51	5.98	0.588	0.17445	5.98	0.588	0.17445	.	0.489617	0.20416	N	0.092763	T	0.67097	0.2857	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.55263	-0.8168	10	0.30854	T	0.27	.	9.4765	0.38875	0.3569:0.5702:0.0729:0.0	.	474	Q6ZVD7	STOX1_HUMAN	T	474;474;364	ENSP00000382121:K474T;ENSP00000298596:K474T;ENSP00000394509:K364T	ENSP00000298596:K474T	K	+	2	0	0	STOX1	70314979	70314979	0.001000	0.12720	0.131000	0.22000	0.015000	0.08874	1.282000	0.33226	0.132000	0.18615	0.482000	0.46254	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_152709			80	80		331	326	1		1			0	0	103	0		1	0	0	0	0	0	0	80	331
STOX1	219736	broad.mit.edu	37	10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C	rs375412611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	628						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443																																						ENST00000298596.6	1.000000	0.360000	6.800000e-01	4.400000e-01	0.530000	0.576813	0.530000	0.520000																										0				28						c.(1882-1884)tTt>tCt		storkhead box 1							132.0	122.0	125.0					10																	70645435		1920	4147	6067	SO:0001583	missense	219736	0	0					g.chr10:70645435T>C	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.1883T>C	chr10.hg19:g.70645435T>C	ENSP00000298596:p.Phe628Ser	0					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S	p.F628S	NM_152709.4	NP_689922.3	1	2	3	2.008551	Q6ZVD7	STOX1_HUMAN		3	1966	+			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	1	1	hg19	c.1883T>C	CCDS41535.1	0	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660004	0.14645	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.72615	-0.67;-0.67;-0.35	6.07	1.24	0.21308	6.07	1.24	0.21308	.	0.694453	0.14722	N	0.302274	T	0.57388	0.2050	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.40534	-0.9558	10	0.25106	T	0.35	.	4.5658	0.12186	0.0:0.2893:0.169:0.5417	.	628	Q6ZVD7	STOX1_HUMAN	S	628;628;518	ENSP00000382121:F628S;ENSP00000298596:F628S;ENSP00000394509:F518S	ENSP00000298596:F628S	F	+	2	0	0	STOX1	70315441	70315441	0.000000	0.05858	0.440000	0.26846	0.966000	0.64601	-0.170000	0.09897	0.524000	0.28502	0.528000	0.53228	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_152709			28	28		603	594	0		1	0		0	0	96	0		1	2.161007e-03	0	0	0	2	0	28	603
DDX50	79009	broad.mit.edu	37	10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388																																						ENST00000373585.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(805-807)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							144.0	135.0	138.0					10																	70673194		2203	4300	6503	SO:0001583	missense	79009	0	0					g.chr10:70673194C>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.805C>T	chr10.hg19:g.70673194C>T	ENSP00000362687:p.Arg269Cys	0					RNU6-571P_ENST00000384128.1_RNA	p.R269C	NM_024045.1	NP_076950.1	1	2	3	2.008551	Q9BQ39	DDX50_HUMAN		6	912	+			Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	1	1	hg19	c.805C>T	CCDS7283.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076777	0.76415	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.09	5.09	0.68999	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.203799	0.53938	D	0.000052	T	0.60728	0.2291	H	0.97077	3.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.74368	-0.3688	10	0.87932	D	0	-7.362	14.4631	0.67465	0.0:0.853:0.147:0.0	.	269;269	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	269	ENSP00000362687:R269C	ENSP00000362687:R269C	R	+	1	0	0	DDX50	70343200	70343200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.530000	0.85305	0.462000	0.41574	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-3.282043	1	0.170000	NM_024045			79	79		365	361	1		1	1		0	0	81	0		1	1	0	28	0	92	0	79	365
DDX50	79009	broad.mit.edu	37	10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	288	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378																																						ENST00000373585.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(862-864)gTg>gCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							165.0	155.0	159.0					10																	70673252		2203	4300	6503	SO:0001583	missense	79009	0	0					g.chr10:70673252T>C	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.863T>C	chr10.hg19:g.70673252T>C	ENSP00000362687:p.Val288Ala	0					RNU6-571P_ENST00000384128.1_RNA	p.V288A	NM_024045.1	NP_076950.1	1	2	3	2.008551	Q9BQ39	DDX50_HUMAN		6	970	+			Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	1	1	hg19	c.863T>C	CCDS7283.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316314	0.81469	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.34072	1.38	5.33	5.33	0.75918	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.107917	0.64402	D	0.000006	T	0.66005	0.2746	M	0.90019	3.08	0.51233	D	0.999912	D;D	0.63880	0.993;0.987	D;D	0.71414	0.973;0.95	T	0.74109	-0.3771	10	0.87932	D	0	-7.0503	14.1577	0.65428	0.0:0.0:0.0:1.0	.	288;288	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	288	ENSP00000362687:V288A	ENSP00000362687:V288A	V	+	2	0	0	DDX50	70343258	70343258	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.138000	0.66242	0.379000	0.24179	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	0		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_024045			79	77		361	358	1		1	1		0	0	100	0		1	9.999999e-01	0	37	0	73	0	79	361
DDX50	79009	broad.mit.edu	37	10	70679738	70679738	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATAAAACAGGTAAGTCTTTT	0.373																																						ENST00000373585.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.e8+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							93.0	90.0	91.0					10																	70679738		2203	4300	6503	SO:0001630	splice_region_variant	79009	0	0					g.chr10:70679738G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1239+1G>A	chr10.hg19:g.70679738G>A		0					DDX50_ENST00000466265.1_Splice_Site		NM_024045.1	NP_076950.1	1	2	3	2.008551	Q9BQ39	DDX50_HUMAN		8	1346	+			Q5VX37|Q8WV76|Q9BWI8	Splice_Site	SNP	ENST00000373585.3	1	1	hg19		CCDS7283.1	1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.448704	0.63178	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	4.24	4.24	0.50183	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1453	0.65347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DDX50	70349744	70349744	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.225000	0.95219	2.056000	0.61249	0.484000	0.47621	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_024045	Intron		105	103		494	484	1		1	1		0	0	100	0		1	2.156545e-01	0	5	0	0	0	105	494
VPS26A	9559	broad.mit.edu	37	10	70892692	70892692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	14					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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(40-42)atC>atT		vacuolar protein sorting 26 homolog A (S. pombe)							85.0	89.0	88.0					10																	70892692		2203	4300	6503	SO:0001819	synonymous_variant	9559	3	121410	34				g.chr10:70892692C>T	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.42C>T	chr10.hg19:g.70892692C>T		0					VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_5'UTR	p.I14I			1	2	3	2.008551	O75436	VP26A_HUMAN		3	695	+			A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	1	1	hg19	c.42C>T	CCDS7286.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.465949	1	0.170000	NM_004896			80	77		345	340	1		1	1		0	0	64	0		1	1	0	32	0	120	0	80	345
SUPV3L1	6832	broad.mit.edu	37	10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	6					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)			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						CTTCTCCCGTGCCCTATTGTG	0.697																																						ENST00000359655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(16-18)Gcc>Acc		suppressor of var1, 3-like 1 (S. cerevisiae)							25.0	29.0	28.0					10																	70940063		2202	4299	6501	SO:0001583	missense	6832	2	121348	36				g.chr10:70940063G>A	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.16G>A	chr10.hg19:g.70940063G>A	ENSP00000352678:p.Ala6Thr	0					SUPV3L1_ENST00000483572.1_3'UTR	p.A6T	NM_003171.3	NP_003162.2	1	2	3	2.008551	Q8IYB8	SUV3_HUMAN		1	76	+			A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	1	1	hg19	c.16G>A	CCDS7287.1	1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991774	0.54041	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.37584	1.43;1.19	5.78	4.88	0.63580	5.78	4.88	0.63580	.	0.224693	0.37136	N	0.002237	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.49607	T	0.09	0.8932	9.357	0.38173	0.0777:0.1447:0.7775:0.0	.	6	Q8IYB8	SUV3_HUMAN	T	6	ENSP00000352678:A6T;ENSP00000409072:A6T	ENSP00000352678:A6T	A	+	1	0	0	SUPV3L1	70610069	70610069	0.249000	0.23941	0.990000	0.47175	0.886000	0.51366	0.284000	0.18864	1.443000	0.47586	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003171			53	53		205	203	1		1	1		0	0	57	0		1	9.811483e-01	0	4	0	23	0	53	205
SUPV3L1	6832	broad.mit.edu	37	10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	119					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)			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						TACAGCTCGTCTCTTCCACCA	0.363																																						ENST00000359655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(355-357)Ctc>Atc		suppressor of var1, 3-like 1 (S. cerevisiae)							146.0	145.0	146.0					10																	70946204		2203	4300	6503	SO:0001583	missense	6832	0	0					g.chr10:70946204C>A	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.355C>A	chr10.hg19:g.70946204C>A	ENSP00000352678:p.Leu119Ile	0					SUPV3L1_ENST00000483572.1_3'UTR	p.L119I	NM_003171.3	NP_003162.2	1	2	3	2.008551	Q8IYB8	SUV3_HUMAN		3	415	+			A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	1	1	hg19	c.355C>A	CCDS7287.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853047	0.91355	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.49513	1.565	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.00824	-1.1551	10	0.52906	T	0.07	-13.5808	20.3151	0.98650	0.0:1.0:0.0:0.0	.	119	Q8IYB8	SUV3_HUMAN	I	119	ENSP00000352678:L119I	ENSP00000352678:L119I	L	+	1	0	0	SUPV3L1	70616210	70616210	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.809000	0.96659	0.467000	0.42956	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_003171			75	74		351	344	1		1	1		0	0	75	0		1	9.962814e-01	0	9	0	33	0	75	351
HKDC1	80201	broad.mit.edu	37	10	71008237	71008237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71008237C>T	ENST00000354624.5	+	10	1456	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Silent_p.R441R	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441	Hexokinase type-2 1.				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.V440fs*51(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						GTGATGTCCGCTTCCTCCTGT	0.597																																						ENST00000354624.5	1.000000	0.090000	3.300000e-01	1.400000e-01	0.210000	0.287212	0.210000	0.200000																										1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	34						c.(1321-1323)cgC>cgT		hexokinase domain containing 1							54.0	54.0	54.0					10																	71008237		2203	4300	6503	SO:0001819	synonymous_variant	80201	0	0					g.chr10:71008237C>T		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.1323C>T	chr10.hg19:g.71008237C>T		0					HKDC1_ENST00000395086.2_Silent_p.R441R|HKDC1_ENST00000488706.1_3'UTR	p.R441R	NM_025130.3	NP_079406	1	2	3	2.008551	Q2TB90	HKDC1_HUMAN		10	1456	+			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	0	1	hg19	c.1323C>T	CCDS7288.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	0	0	0		2	2	2	0		0	0	75		75	74	1	2.060000	-7.328264	1	0.170000	NM_025130			8	8		461	458	0		1	1		0	0	75	0		9.892115e-01	8.292343e-01	0	9	0	179	0	8	461
HK1	3098	broad.mit.edu	37	10	71119777	71119777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000359426.6	+	3	455	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000404387.2_Silent_p.N121N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	117	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|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)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562																																						ENST00000359426.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(349-351)aaC>aaT		hexokinase 1							107.0	100.0	102.0					10																	71119777		2203	4300	6503	SO:0001819	synonymous_variant	3098	0	0					g.chr10:71119777C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.351C>T	chr10.hg19:g.71119777C>T		0					HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000298649.3_Silent_p.N116N	p.N117N	NM_000188.2	NP_000179.2	1	2	3	2.008551	P19367	HXK1_HUMAN		3	455	+			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	1	1	hg19	c.351C>T	CCDS7292.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_000188			58	56		331	325	1		1	1		0	0	74	0		1	1	0	54	0	218	0	58	331
HK1	3098	broad.mit.edu	37	10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000359426.6	+	7	925	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	274	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|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)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493																																						ENST00000359426.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(820-822)cGg>cAg		hexokinase 1							111.0	104.0	106.0					10																	71129326		2203	4300	6503	SO:0001583	missense	3098	0	0					g.chr10:71129326G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.821G>A	chr10.hg19:g.71129326G>A	ENSP00000352398:p.Arg274Gln	0					HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q	p.R274Q	NM_000188.2	NP_000179.2	1	2	3	2.008551	P19367	HXK1_HUMAN		7	925	+			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	1	1	hg19	c.821G>A	CCDS7292.1	1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595268	0.66219	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.34	5.34	0.76211	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.70842	2.15	0.80722	D	1	D;D;D;D;P;P	0.89917	0.976;0.976;1.0;0.979;0.927;0.875	P;B;D;B;B;B	0.71870	0.501;0.397;0.975;0.273;0.245;0.098	D	0.97892	1.0298	10	0.49607	T	0.09	-0.0783	19.0383	0.92987	0.0:0.0:1.0:0.0	.	274;274;273;309;278;262	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	Q	262;309;278;273;273;274;274	ENSP00000353433:R262Q;ENSP00000402103:R309Q;ENSP00000384774:R278Q;ENSP00000415949:R273Q;ENSP00000298649:R273Q;ENSP00000352398:R274Q	ENSP00000298649:R273Q	R	+	2	0	0	HK1	70799332	70799332	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	7.863000	0.87023	2.499000	0.84300	0.563000	0.77884	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.835657	1	0.170000	NM_000188			57	56		213	206	1		1	1		0	0	58	0		1	1	0	61	0	246	0	57	213
HK1	3098	broad.mit.edu	37	10	71142486	71142486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000359426.6	+	10	1613	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000404387.2_Silent_p.T507T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	503	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|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)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617																																						ENST00000359426.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.T507T(1)|p.T502T(1)	endometrium(2)	35						c.(1507-1509)acG>acA		hexokinase 1							101.0	75.0	84.0					10																	71142486		2203	4300	6503	SO:0001819	synonymous_variant	3098	0	0					g.chr10:71142486G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1509G>A	chr10.hg19:g.71142486G>A		0					HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000298649.3_Silent_p.T502T	p.T503T	NM_000188.2	NP_000179.2	1	2	3	2.008551	P19367	HXK1_HUMAN		10	1613	+			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	1	1	hg19	c.1509G>A	CCDS7292.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_000188			33	32		129	126	1		1	1		0	0	23	0		1	1	0	116	0	325	0	33	129
TACR2	6865	broad.mit.edu	37	10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T	rs200471172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	315					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAATCCAGAGCGAAACCTGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18396	0.0		0.001	False		,,,				2504	0.0					ENST00000373306.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(943-945)cGc>cAc		tachykinin receptor 2		C	HIS/ARG	0,4406		0,0,2203	81.0	70.0	74.0		944	4.7	1.0	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR2	NM_001057.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	315/399	71164835	1,13005	2203	4300	6503	SO:0001583	missense	6865	8	121412	39				g.chr10:71164835C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.944G>A	chr10.hg19:g.71164835C>T	ENSP00000362403:p.Arg315His	0					TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	p.R315H	NM_001057.2	NP_001048.2	1	2	3	2.008551	P21452	NK2R_HUMAN		5	1487	-			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	1	1	hg19	c.944G>A	CCDS7293.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.121827	0.94429	0.0	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.58358	0.34;0.34	5.58	4.67	0.58626	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.78889	-0.2026	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9295:0.0:0.0705	.	315	P21452	NK2R_HUMAN	H	103;315	ENSP00000362404:R103H;ENSP00000362403:R315H	ENSP00000362403:R315H	R	-	2	0	0	TACR2	70834841	70834841	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.929000	0.63455	2.625000	0.88918	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1	1	0	1		2	2	2	0		0	0	62		62	57	1	2.060000	-3.750822	1	0.170000				65	65		243	239	1		1	0		0	0	62	0		1	1.176067e-01	0	1	0	2	0	65	243
C10orf35	219738	broad.mit.edu	37	10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	101						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592																																						ENST00000373279.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(301-303)Ctt>Ttt		chromosome 10 open reading frame 35							205.0	154.0	171.0					10																	71392750		2203	4300	6503	SO:0001583	missense	219738	0	0					g.chr10:71392750C>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.301C>T	chr10.hg19:g.71392750C>T	ENSP00000362376:p.Leu101Phe	0					C10orf35_ENST00000491890.1_3'UTR	p.L101F	NM_145306.2	NP_660349.1	1	2	3	2.008551	Q96D05	CJ035_HUMAN		4	460	+				Missense_Mutation	SNP	ENST00000373279.4	1	1	hg19	c.301C>T	CCDS7295.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448740	0.43531	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.109712	0.40640	N	0.001041	T	0.54886	0.1886	L	0.37800	1.135	0.34725	D	0.729148	D	0.61697	0.99	P	0.60068	0.868	T	0.56565	-0.7958	9	0.13108	T	0.6	-22.5095	12.2872	0.54798	0.0:0.8293:0.1707:0.0	.	101	Q96D05	CJ035_HUMAN	F	101	.	ENSP00000362376:L101F	L	+	1	0	0	C10orf35	71062756	71062756	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.426000	0.52778	2.502000	0.84385	0.561000	0.74099	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	0	0	1		17	3	2	1		1	1	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_145306			89	85		528	518	1		1	1		1	0	128	0		1	9.834721e-01	0	16	0	36	0	89	528
H2AFY2	55506	broad.mit.edu	37	10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	128	Lys-rich.				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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577																																						ENST00000373255.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998956	0.990000	1.000000																										0				15						c.(382-384)Ctc>Atc		H2A histone family, member Y2							91.0	78.0	82.0					10																	71851615		2203	4300	6503	SO:0001583	missense	55506	0	0					g.chr10:71851615C>A	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.382C>A	chr10.hg19:g.71851615C>A	ENSP00000362352:p.Leu128Ile	0						p.L128I	NM_018649.2	NP_061119.1	1	2	3	2.008551	Q9P0M6	H2AW_HUMAN		4	646	+			Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	1	1	hg19	c.382C>A	CCDS7296.1	1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250032	0.22880	.	.	ENSG00000099284	ENST00000373255	T	0.21932	1.98	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.171146	0.52532	D	0.000065	T	0.13841	0.0335	N	0.16743	0.435	0.46823	D	0.999214	B	0.14438	0.01	B	0.06405	0.002	T	0.09271	-1.0682	10	0.02654	T	1	-2.6828	20.1574	0.98116	0.0:1.0:0.0:0.0	.	128	Q9P0M6	H2AW_HUMAN	I	128	ENSP00000362352:L128I	ENSP00000362352:L128I	L	+	1	0	0	H2AFY2	71521621	71521621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.616000	0.67709	2.941000	0.99782	0.655000	0.94253	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_018649			37	36		275	262	1		1	1		0	0	76	0		1	9.998700e-01	0	15	0	87	0	37	275
AIFM2	84883	broad.mit.edu	37	10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	320					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567																																						ENST00000307864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(958-960)Gcc>Acc		apoptosis-inducing factor, mitochondrion-associated, 2							34.0	33.0	34.0					10																	71874688		2203	4300	6503	SO:0001583	missense	84883	0	0					g.chr10:71874688C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.958G>A	chr10.hg19:g.71874688C>T	ENSP00000312370:p.Ala320Thr	0					AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T|AIFM2_ENST00000482166.1_5'UTR	p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	1	2	3	2.008551	Q9BRQ8	AIFM2_HUMAN		8	1171	-			B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	1	1	hg19	c.958G>A	CCDS7297.1	1	.	.	.	.	.	.	.	.	.	.	C	3.098	-0.185301	0.06340	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29917	1.55;1.55	5.8	0.082	0.14427	5.8	0.082	0.14427	.	0.472269	0.24683	N	0.036442	T	0.06645	0.0170	N	0.00483	-1.445	0.22142	N	0.999334	B	0.02656	0.0	B	0.06405	0.002	T	0.30736	-0.9968	10	0.27082	T	0.32	-3.5514	3.46	0.07529	0.1884:0.3093:0.0:0.5023	.	320	Q9BRQ8	AIFM2_HUMAN	T	320;320;283	ENSP00000362345:A320T;ENSP00000312370:A320T	ENSP00000312370:A320T	A	-	1	0	0	AIFM2	71544694	71544694	0.324000	0.24652	0.992000	0.48379	0.247000	0.25773	-0.048000	0.11944	0.099000	0.17552	0.563000	0.77884	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_032797			32	32		128	126	1		1	1		0	0	29	0		1	1	0	47	0	113	0	32	128
AIFM2	84883	broad.mit.edu	37	10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000482166.1_5'Flank|AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	117					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517																																						ENST00000307864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(349-351)gGc>gAc		apoptosis-inducing factor, mitochondrion-associated, 2							63.0	61.0	62.0					10																	71880912		2203	4300	6503	SO:0001583	missense	84883	0	0					g.chr10:71880912C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.350G>A	chr10.hg19:g.71880912C>T	ENSP00000312370:p.Gly117Asp	0					AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D|AIFM2_ENST00000482166.1_5'Flank	p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	1	2	3	2.008551	Q9BRQ8	AIFM2_HUMAN		4	563	-			B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	1	1	hg19	c.350G>A	CCDS7297.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.209168	0.95069	.	.	ENSG00000042286	ENST00000373248;ENST00000307864	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.79997	-0.1567	10	0.66056	D	0.02	-36.0769	20.4898	0.99202	0.0:1.0:0.0:0.0	.	117	Q9BRQ8	AIFM2_HUMAN	D	117	ENSP00000362345:G117D;ENSP00000312370:G117D	ENSP00000312370:G117D	G	-	2	0	0	AIFM2	71550918	71550918	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.639000	0.74314	2.941000	0.99782	0.655000	0.94253	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.020441	1	0.170000	NM_032797			67	66		316	306	1		1	1		0	0	70	0		1	9.999996e-01	0	28	0	75	0	67	316
NODAL	4838	broad.mit.edu	37	10	72195385	72195385	+	Missense_Mutation	SNP	C	C	T	rs104894169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72195385C>T	ENST00000287139.3	-	2	547	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P111L	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	183			R -> Q (in HTX5; dbSNP:rs104894169). {ECO:0000269|PubMed:9354794}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGTGGGGGGCCGCGGCCAGCA	0.632													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17564	0.0		0.0	False		,,,				2504	0.0					ENST00000287139.3	1.000000	0.140000	5.200000e-01	2.200000e-01	0.340000	0.399578	0.340000	0.300000																										0				15	GRCh37	CM971053	NODAL	M	rs104894169	c.(547-549)cGg>cAg		nodal growth differentiation factor		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	30.0	32.0	32.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	548	-8.3	0.0	10	dbSNP_132	32	0,8600		0,0,4300	no	missense	NODAL	NM_018055.4	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	183/348	72195385	3,13003	2203	4300	6503	SO:0001583	missense	4838	14	121406	43				g.chr10:72195385C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.548G>A	chr10.hg19:g.72195385C>T	ENSP00000287139:p.Arg183Gln	0					AC022532.1_ENST00000420338.2_Missense_Mutation_p.P111L	p.R183Q	NM_018055.4	NP_060525.3	1	2	3	2.008551	Q96S42	NODAL_HUMAN		2	547	-			Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	0	1	hg19	c.548G>A	CCDS7304.1	0	4|4	0.0018315018315018315|0.0018315018315018315	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	7.533|7.533	0.659011|0.659011	0.14645|0.14645	6.81E-4|6.81E-4	0.0|0.0	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.84146	.|-1.8;-1.81	5.88|5.88	-8.31|-8.31	0.01001|0.01001	5.88|5.88	-8.31|-8.31	0.01001|0.01001	.|.	.|0.620051	.|0.16185	.|N	.|0.225677	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	A|A	9.3728e-12|9.3728e-12	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.50634|0.50634	-0.8805|-0.8805	5|8	0.87932|.	D|.	0|.	.|.	6.8381|6.8381	0.23947|0.23947	0.0877:0.1167:0.1728:0.6229|0.0877:0.1167:0.1728:0.6229	.|.	.|183	.|Q96S42	.|NODAL_HUMAN	L|Q	111|183;128	.|ENSP00000287139:R183Q;ENSP00000394468:R128Q	ENSP00000411125:P111L|.	P|R	+|-	2|2	0|0	0|0	AC022532.1|NODAL	71865391|71865391	71865391|71865391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-1.428000|-1.428000	0.02439|0.02439	-2.063000|-2.063000	0.00890|0.00890	-0.137000|-0.137000	0.14449|0.14449	CCG|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.670233	1	0.170000	NM_018055			7	7		260	254	0		1			0	0	59	0		9.793765e-01	0	0	0	0	0	0	7	260
PRF1	5551	broad.mit.edu	37	10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	546					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec			yes	Rec			10	10q22	10q22	5551	M	perforin 1 (pore forming protein)			Type 2 familial hemophagocytic lymphohistiocytosis	L	L		various leukaemia, lymphoma			0				23	GRCh37	CD040316	PRF1	D		c.(1636-1638)cCt>cTt		perforin 1 (pore forming protein)							53.0	55.0	54.0					10																	72357840		2203	4300	6503	SO:0001583	missense	5551	0	0		Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	g.chr10:72357840G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1637C>T	chr10.hg19:g.72357840G>A	ENSP00000398568:p.Pro546Leu	0					PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	1	2	3	2.008551	P14222	PERF_HUMAN		3	1797	-			B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	1	1	hg19	c.1637C>T	CCDS7305.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901039	0.33535	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.97	3.14	0.36123	5.97	3.14	0.36123	.	0.273424	0.37012	N	0.002299	D	0.87099	0.6093	M	0.66378	2.025	0.40045	D	0.975705	B	0.16603	0.018	B	0.09377	0.004	T	0.79890	-0.1612	10	0.32370	T	0.25	-9.7627	8.3575	0.32340	0.2439:0.0:0.7561:0.0	.	546	P14222	PERF_HUMAN	L	546	ENSP00000362305:P546L;ENSP00000398568:P546L	ENSP00000316746:P546L	P	-	2	0	0	PRF1	72027846	72027846	0.691000	0.27709	0.695000	0.30226	0.527000	0.34593	1.124000	0.31320	0.426000	0.26116	-0.140000	0.14226	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_005041			60	58		249	242	1		1	1		0	0	62	0		1	9.999946e-01	0	2	0	75	0	60	249
ADAMTS14	140766	broad.mit.edu	37	10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373207.1	+	10	1552	c.1552A>G	c.(1552-1554)Acc>Gcc	p.T518A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T521A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	518	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)			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						CTTCTGCAAGACCAAGAAGGG	0.612																																						ENST00000373207.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999948	0.990000	1.000000																										0				50						c.(1552-1554)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							88.0	78.0	82.0					10																	72496502		2203	4300	6503	SO:0001583	missense	140766	0	0					g.chr10:72496502A>G	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.1552A>G	chr10.hg19:g.72496502A>G	ENSP00000362303:p.Thr518Ala	0					ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T521A	p.T518A	NM_080722.3	NP_542453.2	1	2	3	2.008551	Q8WXS8	ATS14_HUMAN		10	1552	+			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	1	1	hg19	c.1552A>G	CCDS7306.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440456	0.83993	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.71817	-0.6;-0.6	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.80746	2.51	0.50632	D	0.999885	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.976;0.996	D	0.86221	0.1631	10	0.87932	D	0	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	451;518;521	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	521;518	ENSP00000362304:T521A;ENSP00000362303:T518A	ENSP00000362303:T518A	T	+	1	0	0	ADAMTS14	72166508	72166508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.087000	0.94110	1.993000	0.58246	0.383000	0.25322	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_080722			42	42		267	262	1		1	0		0	0	65	0		1	4.087598e-01	0	0	0	10	0	42	267
ADAMTS14	140766	broad.mit.edu	37	10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373207.1	+	12	1765	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R592C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						CTATGGAGGCCGCCTGTGCTT	0.627																																						ENST00000373207.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1765-1767)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63.0	53.0	56.0					10																	72500759		2203	4300	6503	SO:0001583	missense	140766	2	121412	32				g.chr10:72500759C>T	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.1765C>T	chr10.hg19:g.72500759C>T	ENSP00000362303:p.Arg589Cys	0					ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R592C	p.R589C	NM_080722.3	NP_542453.2	1	2	3	2.008551	Q8WXS8	ATS14_HUMAN		12	1765	+			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	1	1	hg19	c.1765C>T	CCDS7306.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367801	0.82463	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03860	3.78;3.78	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.070614	0.56097	D	0.000035	T	0.26521	0.0648	M	0.90425	3.115	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	T	0.01848	-1.1261	10	0.87932	D	0	.	13.6385	0.62235	0.1547:0.8453:0.0:0.0	.	522;589;592	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	C	592;589	ENSP00000362304:R592C;ENSP00000362303:R589C	ENSP00000362303:R589C	R	+	1	0	0	ADAMTS14	72170765	72170765	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	4.316000	0.59178	2.735000	0.93741	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_080722			45	42		199	196	1		1	0		0	0	58	0		1	3.865290e-01	0	0	0	7	0	45	199
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					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)			large_intestine(4)	4						TCGACGCTTGTCTGGGAGGCT	0.423																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(949-951)tgT>tgC		sphingosine-1-phosphate lyase 1							146.0	136.0	139.0					10																	72631635		2203	4300	6503	SO:0001819	synonymous_variant	8879	0	0					g.chr10:72631635T>C	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.951T>C	chr10.hg19:g.72631635T>C		0						p.C317C	NM_003901.3	NP_003892.2	1	2	3	2.008551	O95470	SGPL1_HUMAN		11	1151	+			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	1	1	hg19	c.951T>C	CCDS31216.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_003901			125	122		538	529	1		1	1		0	0	124	0		1	1	0	28	0	100	0	125	538
UNC5B	219699	broad.mit.edu	37	10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	458					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617																																						ENST00000335350.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1372-1374)Gcc>Acc		unc-5 homolog B (C. elegans)							82.0	80.0	81.0					10																	73051266		2203	4300	6503	SO:0001583	missense	219699	0	0					g.chr10:73051266G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1372G>A	chr10.hg19:g.73051266G>A	ENSP00000334329:p.Ala458Thr	0					UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	p.A458T	NM_170744.4	NP_734465.2	1	2	3	2.008551	Q8IZJ1	UNC5B_HUMAN		10	1788	+			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	1	1	hg19	c.1372G>A	CCDS7309.1	1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103661	0.56291	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50548	0.8;0.74	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.204155	0.42964	D	0.000622	T	0.59101	0.2169	M	0.72894	2.215	0.49483	D	0.999795	D;P	0.57257	0.979;0.908	P;B	0.54100	0.742;0.437	T	0.57745	-0.7758	10	0.18276	T	0.48	-29.7656	17.5121	0.87763	0.0:0.0:1.0:0.0	.	447;458	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	458;447	ENSP00000334329:A458T;ENSP00000362288:A447T	ENSP00000334329:A458T	A	+	1	0	0	UNC5B	72721272	72721272	1.000000	0.71417	0.928000	0.36995	0.452000	0.32318	4.325000	0.59234	2.190000	0.69967	0.651000	0.88453	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_170744			98	97		373	366	1		1	1		0	0	122	0		1	1	0	14	0	165	0	98	373
SLC29A3	55315	broad.mit.edu	37	10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	315					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(943-945)Gtc>Atc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							171.0	175.0	174.0					10																	73121880		2203	4300	6503	SO:0001583	missense	55315	0	0					g.chr10:73121880G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.943G>A	chr10.hg19:g.73121880G>A	ENSP00000362285:p.Val315Ile	0					SLC29A3_ENST00000469204.1_3'UTR	p.V315I	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	1	2	3	2.008551	Q9BZD2	S29A3_HUMAN		6	995	+			B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	1	1	hg19	c.943G>A	CCDS7310.1	1	.	.	.	.	.	.	.	.	.	.	G	3.803	-0.041220	0.07452	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.62	-3.16	0.05217	5.62	-3.16	0.05217	.	0.511061	0.19037	N	0.124400	T	0.44685	0.1305	L	0.52759	1.655	0.31699	N	0.640933	B	0.22146	0.065	B	0.23150	0.044	T	0.28554	-1.0040	9	0.21540	T	0.41	-24.0032	4.6273	0.12484	0.5022:0.161:0.2622:0.0746	.	315	Q9BZD2	S29A3_HUMAN	I	315	ENSP00000362285:V315I	ENSP00000362285:V315I	V	+	1	0	0	SLC29A3	72791886	72791886	0.025000	0.19082	0.012000	0.15200	0.042000	0.13812	0.286000	0.18902	-0.217000	0.10033	-0.140000	0.14226	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	1	0	1		2	2	2	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000	NM_018344			235	232		909	885	1		1	1		0	0	212	0		1	9.992912e-01	0	3	0	40	0	235	909
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7. {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)			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						CCGCCTACTTCGTCTCCGTGG	0.627																																						ENST00000224721.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				133						c.(2044-2046)ttC>ttT		cadherin-related 23							48.0	51.0	50.0					10																	73447448		2073	4210	6283	SO:0001819	synonymous_variant	64072	4	121054	34				g.chr10:73447448C>T	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.2046C>T	chr10.hg19:g.73447448C>T		0					CDH23_ENST00000299366.7_Silent_p.F722F	p.F682F	NM_022124.5	NP_071407.4	1	2	3	2.008551	Q9H251	CAD23_HUMAN		18	2051	+			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	1	1	hg19	c.2046C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.369206	1	0.170000	NM_052836			33	31		149	145	1		1	0		0	0	58	0		1	3.077633e-01	0	0	0	6	0	33	149
CDH23	64072	broad.mit.edu	37	10	73462397	73462397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	893	Cadherin 9. {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)			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						TTCAGAACCTGCCTTTTGTGG	0.562																																						ENST00000224721.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				133						c.(2692-2694)ctG>ctA		cadherin-related 23							122.0	127.0	125.0					10																	73462397		1944	4141	6085	SO:0001819	synonymous_variant	64072	0	0					g.chr10:73462397G>A	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.2694G>A	chr10.hg19:g.73462397G>A		0					CDH23_ENST00000299366.7_Silent_p.L938L	p.L898L	NM_022124.5	NP_071407.4	1	2	3	2.008551	Q9H251	CAD23_HUMAN		23	2699	+			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	1	1	hg19	c.2694G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_052836			136	136		583	569	1		1	0		0	0	124	0		1	1.661021e-01	0	0	0	4	0	136	583
CDH23	64072	broad.mit.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	rs201533282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15. {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)			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						TCCAGTCATCGAGAGCCCCTT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		18011	0.0		0.002	False		,,,				2504	0.0					ENST00000224721.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				133						c.(4597-4599)Gag>Aag		cadherin-related 23		G	LYS/GLU	0,4074		0,0,2037	83.0	88.0	86.0		4582	4.9	1.0	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG		0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense	64072	20	120992	46				g.chr10:73500672G>A	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.4597G>A	chr10.hg19:g.73500672G>A	ENSP00000224721:p.Glu1533Lys	0						p.E1533K	NM_022124.5	NP_071407.4	1	2	3	2.008551	Q9H251	CAD23_HUMAN		36	4602	+			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	1	1	hg19	c.4597G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	0	CDH23	73170678	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.124768	1	0.170000	NM_052836			95	94		389	378	1		1			0	0	98	0		1	0	0	0	0	0	0	95	389
C10orf54	64115	broad.mit.edu	37	10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	170					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622																																						ENST00000394957.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999729	0.990000	1.000000																										0				9						c.(508-510)Aca>Gca		chromosome 10 open reading frame 54							34.0	27.0	29.0					10																	73521358		2202	4300	6502	SO:0001583	missense	64115	0	0					g.chr10:73521358T>C	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.508A>G	chr10.hg19:g.73521358T>C	ENSP00000378409:p.Thr170Ala	0					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	p.T170A	NM_022153.1	NP_071436.1	1	2	3	2.008551	Q9H7M9	GI24_HUMAN		2	566	-			A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	1	1	hg19	c.508A>G	CCDS31218.1	1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268732	0.23136	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.42131	0.98	5.75	1.99	0.26369	5.75	1.99	0.26369	Immunoglobulin-like fold (1);	0.612772	0.18840	N	0.129705	T	0.28928	0.0718	L	0.40543	1.245	0.25380	N	0.988629	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.18999	-1.0319	10	0.24483	T	0.36	.	6.8447	0.23982	0.0:0.1273:0.234:0.6387	.	166;170	Q2TA85;Q9H7M9	.;GI24_HUMAN	A	170;166	ENSP00000378409:T170A	ENSP00000263569:T166A	T	-	1	0	0	C10orf54	73191364	73191364	0.976000	0.34144	0.549000	0.28204	0.978000	0.69477	1.393000	0.34497	0.085000	0.17107	-0.250000	0.11733	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_022153			15	16		64	63	1		1	1		0	0	17	0		9.999268e-01	1	0	34	0	321	0	15	64
C10orf54	64115	broad.mit.edu	37	10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T	rs374460058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	90	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657																																						ENST00000394957.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(268-270)cGc>cAc		chromosome 10 open reading frame 54							105.0	103.0	104.0					10																	73521597		2203	4300	6503	SO:0001583	missense	64115	0	0					g.chr10:73521597C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.269G>A	chr10.hg19:g.73521597C>T	ENSP00000378409:p.Arg90His	0					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	p.R90H	NM_022153.1	NP_071436.1	1	2	3	2.008551	Q9H7M9	GI24_HUMAN		2	327	-			A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	1	1	hg19	c.269G>A	CCDS31218.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727148	0.89390	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.58358	0.34	5.75	5.75	0.90469	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047659	0.85682	D	0.000000	T	0.70351	0.3214	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.72500	-0.4274	10	0.72032	D	0.01	-15.4596	13.1811	0.59655	0.0:0.9272:0.0:0.0728	.	86;90	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	90;86	ENSP00000378409:R90H	ENSP00000263569:R86H	R	-	2	0	0	C10orf54	73191603	73191603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.720000	0.93068	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	1	0	1		2	2	2	0		0	0	48		48	45	1	2.060000	-3.082684	1	0.170000	NM_022153			52	53		247	241	1		1	1		0	0	48	0		1	1	0	41	0	332	0	52	247
CDH23	64072	broad.mit.edu	37	10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T	rs373602652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R727C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2967	Cadherin 27. {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)			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						GATCCCCGACCGTGTGCGCGG	0.602																																						ENST00000224721.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				133						c.(8914-8916)Cgt>Tgt		cadherin-related 23							95.0	95.0	95.0					10																	73569753		2119	4210	6329	SO:0001583	missense	64072	10	121058	42				g.chr10:73569753C>T	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.8914C>T	chr10.hg19:g.73569753C>T	ENSP00000224721:p.Arg2972Cys	0					CDH23_ENST00000398788.3_Missense_Mutation_p.R727C|CDH23_ENST00000475158.1_3'UTR	p.R2972C	NM_022124.5	NP_071407.4	1	2	3	2.008551	Q9H251	CAD23_HUMAN		60	8919	+			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	1	1	hg19	c.8914C>T		1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670997	0.47781	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57752	0.38	5.82	4.91	0.64330	5.82	4.91	0.64330	Cadherin (1);	0.287586	0.27725	N	0.018109	T	0.37348	0.1000	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.58620	0.983;0.978	B;B	0.39027	0.288;0.226	T	0.32851	-0.9891	10	0.62326	D	0.03	.	7.2417	0.26100	0.288:0.6299:0.0:0.0821	.	2967;2967	E9PEX1;Q9H251	.;CAD23_HUMAN	C	2972;2967;2970;727	ENSP00000381768:R727C	ENSP00000224721:R2972C	R	+	1	0	0	CDH23	73239759	73239759	0.993000	0.37304	0.995000	0.50966	0.693000	0.40251	1.256000	0.32921	2.759000	0.94783	0.549000	0.68633	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1		2	2	2	0		0	0	126		126	121	1	2.060000	-2.910759	1	0.170000	NM_052836			96	96		422	417	1		1	0		0	0	126	0		1	3.508785e-02	0	0	0	2	0	96	422
CDH23	64072	broad.mit.edu	37	10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A840V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3080					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)			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						TTCCTGGCCGCCATGCTCTTT	0.657																																						ENST00000224721.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				133						c.(9253-9255)gCc>gTc		cadherin-related 23							119.0	128.0	125.0					10																	73571308		2158	4240	6398	SO:0001583	missense	64072	0	0					g.chr10:73571308C>T	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.9254C>T	chr10.hg19:g.73571308C>T	ENSP00000224721:p.Ala3085Val	0					CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	p.A3085V	NM_022124.5	NP_071407.4	1	2	3	2.008551	Q9H251	CAD23_HUMAN		63	9259	+			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	1	1	hg19	c.9254C>T		1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788300	0.49997	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58358	0.34	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.072195	0.53938	D	0.000051	T	0.47173	0.1431	L	0.46157	1.445	0.52099	D	0.999943	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.37709	-0.9694	10	0.40728	T	0.16	.	14.3129	0.66429	0.0:0.9264:0.0:0.0735	.	3080;3080	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3085;3080;3083;840	ENSP00000381768:A840V	ENSP00000224721:A3085V	A	+	2	0	0	CDH23	73241314	73241314	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.146000	0.58072	2.520000	0.84964	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	0	0	1		18	2	2	1		1	1	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_052836			91	87		453	445	1		1	0		1	0	99	0		1	0	0	0	0	1	0	91	453
PSAP	5660	broad.mit.edu	37	10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A	rs188854022	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin	189					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		15955	0.002		0.0	False		,,,				2504	0.0					ENST00000394936.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(565-567)Ccc>Tcc		prosaposin							40.0	42.0	41.0					10																	73588645		2203	4300	6503	SO:0001583	missense	5660	13	121412	41				g.chr10:73588645G>A	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.565C>T	chr10.hg19:g.73588645G>A	ENSP00000378394:p.Pro189Ser	0					PSAP_ENST00000394934.1_Missense_Mutation_p.P189S	p.P189S			1	2	3	2.008551	P07602	SAP_HUMAN		5	712	-			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	1	1	hg19	c.565C>T	CCDS7311.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.48	1.949636	0.34377	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.70631	-0.5;-0.5	4.53	3.59	0.41128	4.53	3.59	0.41128	.	0.289616	0.37715	N	0.001962	T	0.54515	0.1863	L	0.28458	0.855	0.33022	D	0.52902	B	0.21688	0.059	B	0.19148	0.024	T	0.58020	-0.7710	10	0.26408	T	0.33	-0.0286	9.2139	0.37335	0.0:0.1371:0.6563:0.2067	.	189	P07602	SAP_HUMAN	S	189;189;189;189;192;114	ENSP00000378394:P189S;ENSP00000378392:P189S	ENSP00000350063:P189S	P	-	1	0	0	PSAP	73258651	73258651	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.516000	0.35856	1.198000	0.43158	0.313000	0.20887	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_002778			47	46		225	223	1		1	1		0	0	51	0		1	1	0	1067	0	6312	0	47	225
PSAP	5660	broad.mit.edu	37	10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin	130	Saposin B-type 1. {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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542																																						ENST00000394936.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				13						c.(388-390)gAg>gCg		prosaposin							60.0	61.0	61.0					10																	73588821		2203	4300	6503	SO:0001583	missense	5660	0	0					g.chr10:73588821T>G	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.389A>C	chr10.hg19:g.73588821T>G	ENSP00000378394:p.Glu130Ala	0					PSAP_ENST00000394934.1_Missense_Mutation_p.E130A	p.E130A			1	2	3	2.008551	P07602	SAP_HUMAN		5	536	-			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	1	1	hg19	c.389A>C	CCDS7311.1	1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710205	0.48517	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	3.83	0.44106	5.0	3.83	0.44106	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.051555	0.85682	D	0.000000	T	0.63721	0.2535	L	0.43152	1.355	0.35697	D	0.815282	P	0.46064	0.872	P	0.45167	0.472	T	0.63681	-0.6582	10	0.13470	T	0.59	-23.1839	5.6585	0.17656	0.2929:0.0:0.1327:0.5744	.	130	P07602	SAP_HUMAN	A	130;130;130;130;133;55	ENSP00000378394:E130A;ENSP00000378392:E130A	ENSP00000350063:E130A	E	-	2	0	0	PSAP	73258827	73258827	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	5.356000	0.66052	0.828000	0.34709	0.260000	0.18958	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_002778			49	49		314	308	1		1	1		0	0	64	0		1	1	0	864	0	5524	0	49	314
CHST3	9469	broad.mit.edu	37	10	73767332	73767332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	181					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCGCCAACGCCGCGGGCTCGG	0.652																																						ENST00000373115.4	1.000000	0.600000	1	8.000000e-01	0.990000	0.930860	0.990000	1.000000																										0				6						c.(541-543)gcC>gcT		carbohydrate (chondroitin 6) sulfotransferase 3							20.0	21.0	21.0					10																	73767332		2200	4298	6498	SO:0001819	synonymous_variant	9469	1	121086	26				g.chr10:73767332C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.543C>T	chr10.hg19:g.73767332C>T		0						p.A181A	NM_004273.4	NP_004264.2	1	2	3	2.008551	Q7LGC8	CHST3_HUMAN		3	980	+			O75099|Q52M30	Silent	SNP	ENST00000373115.4	0	1	hg19	c.543C>T	CCDS7312.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-18.656250	1	0.170000	NM_004273			13	12		136	131	0		1	0		0	0	23	0		9.994908e-01	6.448254e-01	0	0	0	24	0	13	136
ASCC1	51008	broad.mit.edu	37	10	73921319	73921319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTTTACACTGCTGTAGCATCT	0.428																																						ENST00000342444.4	1.000000	0.550000	9.700000e-01	6.600000e-01	0.790000	0.803070	0.790000	1.000000																										0				7						c.(685-687)caG>caA		activating signal cointegrator 1 complex subunit 1							153.0	140.0	144.0					10																	73921319		2203	4300	6503	SO:0001819	synonymous_variant	51008	0	0					g.chr10:73921319C>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.687G>A	chr10.hg19:g.73921319C>T		0					ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q	p.Q229Q	NM_001198799.2	NP_001185728.1	1	2	3	2.008551	Q8N9N2	ASCC1_HUMAN		7	788	-			Q5SW06|Q5SW07|Q96EI8|Q9Y307	Silent	SNP	ENST00000342444.4	1	1	hg19	c.687G>A	CCDS55713.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.008|9.008	0.981892|0.981892	0.18812|0.18812	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286	.|.	.|.	.|.	5.6|5.6	3.72|3.72	0.42706|0.42706	5.6|5.6	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.59266|0.59266	0.2181|0.2181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56559|0.56559	-0.7959|-0.7959	4|4	.|.	.|.	.|.	.|.	9.1805|9.1805	0.37138|0.37138	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	.|.	.|.	.|.	T|N	133|98	.|.	.|.	A|S	-|-	1|2	0|0	0|0	ASCC1|ASCC1	73591325|73591325	73591325|73591325	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	2.272000|2.272000	0.43373|0.43373	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-7.711804	1	0.170000	NM_015947			33	31		471	448	1		1	1		0	0	130	0		1	9.997341e-01	0	27	0	151	0	33	471
ASCC1	51008	broad.mit.edu	37	10	73973061	73973061	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ANAPC16_ENST00000299381.4_5'Flank	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCCATGACACTTTCTCCAAA	0.368																																						ENST00000342444.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7								activating signal cointegrator 1 complex subunit 1							116.0	107.0	110.0					10																	73973061		2203	4300	6503			51008	0	0					g.chr10:73973061C>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.-5G>A	chr10.hg19:g.73973061C>T		0					ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000492502.2_5'UTR|ANAPC16_ENST00000299381.4_5'Flank|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame		NM_001198799.2	NP_001185728.1	1	2	3	2.008551	Q8N9N2	ASCC1_HUMAN		0	97	-			Q5SW06|Q5SW07|Q96EI8|Q9Y307	Translation_Start_Site	SNP	ENST00000342444.4	1	0	hg19		CCDS55713.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228190	0.58777	.	.	ENSG00000138303	ENST00000545550	T	0.32988	1.43	4.86	0.583	0.17417	4.86	0.583	0.17417	.	.	.	.	.	T	0.17450	0.0419	.	.	.	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	8	0.42905	T	0.14	.	2.74	0.05251	0.1488:0.5432:0.1443:0.1637	.	21	F5H874	.	N	21	ENSP00000442121:S21N	ENSP00000442121:S21N	S	-	2	0	0	ASCC1	73643067	73643067	0.000000	0.05858	0.010000	0.14722	0.854000	0.48673	-0.140000	0.10342	0.136000	0.18733	0.563000	0.77884	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	0	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_015947			57	57		188	185	1		1	1		0	0	54	0		1	1	0	41	0	75	0	57	188
DDIT4	54541	broad.mit.edu	37	10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	111					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0.0	5008	,	,		16683	0.0		0.0	False		,,,				2504	0.0					ENST00000307365.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(331-333)tCt>tTt		DNA-damage-inducible transcript 4		C	PHE/SER	9,4397	14.3+/-33.2	0,9,2194	64.0	70.0	68.0		332	4.0	1.0	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DDIT4	NM_019058.2	155	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	possibly-damaging	111/233	74034579	9,12997	2203	4300	6503	SO:0001583	missense	54541	23	121400	47				g.chr10:74034579C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.332C>T	chr10.hg19:g.74034579C>T	ENSP00000307305:p.Ser111Phe	0		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	RP11-442H21.2_ENST00000491934.2_RNA	p.S111F	NM_019058.2	NP_061931.1	1	2	3	2.008551	Q9NX09	DDIT4_HUMAN		3	533	+			Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	1	1	hg19	c.332C>T	CCDS7315.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.53	2.862093	0.51482	0.002043	0.0	ENSG00000168209	ENST00000307365	T	0.47528	0.84	4.96	4.01	0.46588	4.96	4.01	0.46588	.	0.296750	0.31884	N	0.006908	T	0.44644	0.1303	L	0.34521	1.04	0.40091	D	0.976251	P	0.42409	0.779	P	0.45946	0.498	T	0.52719	-0.8538	10	0.72032	D	0.01	-11.6794	14.2728	0.66162	0.0:0.8507:0.1493:0.0	.	111	Q9NX09	DDIT4_HUMAN	F	111	ENSP00000307305:S111F	ENSP00000307305:S111F	S	+	2	0	0	DDIT4	73704585	73704585	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	2.756000	0.47549	2.289000	0.77006	0.462000	0.41574	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	0	0	1		18	11	2	1		1	1	168		168	165	1	2.060000	-3.153828	1	0.170000	NM_019058			155	155		681	674	1		1	1		1	0	168	0		1	1	0	79	0	384	0	155	681
OIT3	170392	broad.mit.edu	37	10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	226						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			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)					AGACGTTGAAGGATGCCACAA	0.473																																					Colon(7;19 345 13446 17537)	ENST00000334011.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(676-678)Gga>Tga		oncoprotein induced transcript 3							115.0	107.0	110.0					10																	74671483		2203	4300	6503	SO:0001587	stop_gained	170392	0	0					g.chr10:74671483G>T		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.676G>T	chr10.hg19:g.74671483G>T	ENSP00000333900:p.Gly226*	0						p.G226*	NM_152635.1	NP_689848.1	1	2	3	2.008551	Q8WWZ8	OIT3_HUMAN		5	894	+	Prostate(51;0.0198)		A0AVP3|Q8N1M8	Nonsense_Mutation	SNP	ENST00000334011.5	0	1	hg19	c.676G>T	CCDS7318.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.028173	0.98013	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.5693	20.2375	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000333900:G226X	G	+	1	0	0	OIT3	74341489	74341489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.019000	0.76412	2.790000	0.95986	0.655000	0.94253	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	1	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-3.020412	1	0.170000	NM_152635			113	111		513	501	1		1		0	0	0	154	0		1	0	0	0	0	0	1	113	513
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000307116.2	-	8	1021	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353																																					Colon(147;367 2405 2662 52127)	ENST00000307116.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(904-906)cCt>cTt		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						64.0	64.0	64.0					10																	74806855		2203	4300	6503	SO:0001583	missense	5033	0	0					g.chr10:74806855G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.905C>T	chr10.hg19:g.74806855G>A	ENSP00000307318:p.Pro302Leu	0					P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L	p.P302L			1	2	3	2.008551	P13674	P4HA1_HUMAN		8	1021	-	Prostate(51;0.0198)		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	1	1	hg19	c.905C>T		1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137993	0.77775	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49139	0.81;0.82;0.81;0.81;0.82;0.79	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.097977	0.64402	D	0.000001	T	0.58163	0.2103	M	0.81341	2.54	0.80722	D	1	B;P;P	0.40660	0.002;0.726;0.726	B;B;B	0.40864	0.014;0.342;0.236	T	0.63093	-0.6714	10	0.59425	D	0.04	-13.1687	20.369	0.98888	0.0:0.0:1.0:0.0	.	302;302;302	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	L	302	ENSP00000307318:P302L;ENSP00000362099:P302L;ENSP00000411688:P302L;ENSP00000378353:P302L;ENSP00000263556:P302L;ENSP00000414464:P302L	ENSP00000263556:P302L	P	-	2	0	0	P4HA1	74476861	74476861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.607000	0.82883	2.819000	0.97034	0.650000	0.86243	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	1	0	0		2	2	2	0		0	0	40		40	38	1	2.060000	-3.075402	1	0.170000	NM_000917			53	51		240	234	1		1	1		0	0	40	0		1	1	0	133	0	382	0	53	240
DNAJC9	23234	broad.mit.edu	37	10	75006444	75006444	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1		DNAJC9-AS1_ENST00000440197.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9						social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448																																						ENST00000372950.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.e2+1		DnaJ (Hsp40) homolog, subfamily C, member 9							61.0	69.0	66.0					10																	75006444		2203	4300	6503	SO:0001630	splice_region_variant	23234	0	0					g.chr10:75006444A>G	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.321+1T>C	chr10.hg19:g.75006444A>G		0					DNAJC9-AS1_ENST00000440197.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'Flank		NM_015190.3	NP_056005.1	1	2	3	2.008551	Q8WXX5	DNJC9_HUMAN		2	1994	-	Prostate(51;0.0119)		B2RMW6	Splice_Site	SNP	ENST00000372950.4	1	1	hg19		CCDS7322.1	1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365007	0.61513	.	.	ENSG00000213551	ENST00000372950	.	.	.	5.19	4.02	0.46733	5.19	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5337	0.44992	0.8373:0.1627:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DNAJC9	74676450	74676450	1.000000	0.71417	0.776000	0.31678	0.748000	0.42578	9.278000	0.95766	0.877000	0.35895	0.482000	0.46254	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_015190	Intron		86	84		337	333	1		1	1		0	0	56	0		1	5.089540e-01	0	6	0	1	0	86	337
CFAP70	118491	broad.mit.edu	37	10	75101334	75101334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000310715.3	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000340329.3_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		205						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408																																						ENST00000310715.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(613-615)gaC>gaT									52.0	55.0	54.0					10																	75101334		2203	4300	6503	SO:0001819	synonymous_variant	0	1	121412	33				g.chr10:75101334G>A																												ENST00000310715.3:c.615C>T	chr10.hg19:g.75101334G>A		0					TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000340329.3_Silent_p.D205D	p.D205D	NM_145170.3	NP_660153.3	1	2	3	2.008551	Q5T0N1	TTC18_HUMAN		7	735	-	Prostate(51;0.0119)		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	1	1	hg19	c.615C>T	CCDS7324.3	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				49	49		235	231	1		1	0		0	0	68	0		1	0	0	0	0	1	0	49	235
CFAP70	118491	broad.mit.edu	37	10	75107993	75107993	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000340329.3_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Splice_Site_p.G117V|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Splice_Site_p.G117V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		117						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443																																						ENST00000310715.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(349-351)gGa>gTa									89.0	83.0	85.0					10																	75107993		2203	4300	6503	SO:0001630	splice_region_variant	0	0	0					g.chr10:75107993C>A																												ENST00000310715.3:c.350-1G>T	chr10.hg19:g.75107993C>A		0					TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000401621.2_Splice_Site_p.G117V|TTC18_ENST00000340329.3_Splice_Site_p.G117V	p.G117V	NM_145170.3	NP_660153.3	1	2	3	2.008551	Q5T0N1	TTC18_HUMAN		5	470	-	Prostate(51;0.0119)		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	ENST00000310715.3	1	0	hg19	c.350G>T	CCDS7324.3	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130417	0.77549	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	117	Q5T0N1	TTC18_HUMAN	V	117	ENSP00000310829:G117V;ENSP00000384479:G117V;ENSP00000343650:G117V;ENSP00000378334:G117V	ENSP00000310829:G117V	G	-	2	0	0	TTC18	74777999	74777999	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	4.991000	0.63883	2.479000	0.83701	0.557000	0.71058	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.184179	1	0.170000		Missense_Mutation		57	57		257	252	1		1	0		0	0	60	0		1	8.959269e-02	0	0	0	3	0	57	257
USP54	159195	broad.mit.edu	37	10	75277367	75277367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Silent_p.E939E|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E|USP54_ENST00000428547.1_Silent_p.E789E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	939					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGCAGATGACTCTGGAGATA	0.517																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2815-2817)gaG>gaA		ubiquitin specific peptidase 54							79.0	72.0	75.0					10																	75277367		2203	4300	6503	SO:0001819	synonymous_variant	159195	0	0					g.chr10:75277367C>T	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.2817G>A	chr10.hg19:g.75277367C>T		0					RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000428547.1_Silent_p.E789E|RP11-137L10.6_ENST00000593790.1_RNA	p.E939E			1	2	3	2.008551	Q70EL1	UBP54_HUMAN		19	2917	-	Prostate(51;0.0112)		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	1	1	hg19	c.2817G>A	CCDS7329.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_152586			48	47		176	173	1		1	1		0	0	60	0		1	9.993639e-01	0	7	0	37	0	48	176
SYNPO2L	79933	broad.mit.edu	37	10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	393						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667																																						ENST00000394810.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1177-1179)caG>caT		synaptopodin 2-like							53.0	55.0	54.0					10																	75408231		2203	4300	6503	SO:0001583	missense	79933	0	0					g.chr10:75408231C>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1179G>T	chr10.hg19:g.75408231C>A	ENSP00000378289:p.Gln393His	0					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	p.Q393H	NM_001114133.1	NP_001107605.1	1	2	3	2.008551	Q9H987	SYP2L_HUMAN		4	1328	-	Prostate(51;0.0112)		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	1	1	hg19	c.1179G>T	CCDS44438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648146	0.47258	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28069	1.63;2.71;2.71	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.423282	0.23752	N	0.044914	T	0.36358	0.0964	L	0.52573	1.65	0.51012	D	0.999909	B;P	0.40638	0.412;0.725	B;P	0.46940	0.172;0.532	T	0.15464	-1.0436	10	0.66056	D	0.02	-5.8585	11.3228	0.49433	0.0:0.9164:0.0:0.0836	.	393;169	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	169;393;393	ENSP00000361964:Q169H;ENSP00000361963:Q393H;ENSP00000378289:Q393H	ENSP00000361963:Q393H	Q	-	3	2	2	SYNPO2L	75078237	75078237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.166000	0.31834	2.456000	0.83038	0.491000	0.48974	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_024875			100	98		425	421	1		1			0	0	95	0		1	0	0	0	0	0	0	100	425
SEC24C	9632	broad.mit.edu	37	10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	76					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)			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)					ACAGCACAGGCTCCTTGTGGC	0.517																																						ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(226-228)gCt>gAt		SEC24 family member C							83.0	70.0	74.0					10																	75510920		2203	4300	6503	SO:0001583	missense	9632	0	0					g.chr10:75510920C>A	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.227C>A	chr10.hg19:g.75510920C>A	ENSP00000343405:p.Ala76Asp	0					SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000546025.1_Intron	p.A76D	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		4	389	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	1	1	hg19	c.227C>A	CCDS7332.1	1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990813	0.35131	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	T;T	0.78246	-1.16;-1.16	5.58	1.53	0.23141	5.58	1.53	0.23141	.	0.912535	0.09395	N	0.808044	T	0.54515	0.1863	N	0.08118	0	0.09310	N	0.999997	B	0.23735	0.09	B	0.23419	0.046	T	0.43540	-0.9385	10	0.35671	T	0.21	-0.3216	2.8206	0.05470	0.1174:0.4822:0.1251:0.2752	.	76	P53992	SC24C_HUMAN	D	76	ENSP00000321845:A76D;ENSP00000343405:A76D	ENSP00000343405:A76D	A	+	2	0	0	SEC24C	75180926	75180926	0.844000	0.29557	0.963000	0.40424	0.984000	0.73092	0.228000	0.17814	0.363000	0.24346	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				42	41		210	208	1		1	1		0	0	69	0		1	9.999995e-01	0	33	0	82	0	42	210
SEC24C	9632	broad.mit.edu	37	10	75520113	75520113	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P131P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	273					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)			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)					TGCACTCCCCGCAGCAGCCAG	0.557																																						ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(817-819)ccG>ccA		SEC24 family member C							56.0	61.0	59.0					10																	75520113		2203	4300	6503	SO:0001819	synonymous_variant	9632	1	121396	32				g.chr10:75520113G>A	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.819G>A	chr10.hg19:g.75520113G>A		0					SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000546025.1_Silent_p.P131P	p.P273P	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		6	981	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	1	1	hg19	c.819G>A	CCDS7332.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-3.328475	1	0.170000				84	82		427	422	1		1	1		0	0	105	0		1	1	0	46	0	135	0	84	427
SEC24C	9632	broad.mit.edu	37	10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A	rs368086925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	287					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)			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)					AGGTTCCTTCGGACCAGCCCG	0.537																																						ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(859-861)Gga>Aga		SEC24 family member C		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	53.0	61.0	58.0		859,859	5.8	1.0	10		58	0,8600		0,0,4300	no	missense,missense	SEC24C	NM_004922.3,NM_198597.2	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/1095,287/1095	75520479	1,13005	2203	4300	6503	SO:0001583	missense	9632	5	121410	39				g.chr10:75520479G>A	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.859G>A	chr10.hg19:g.75520479G>A	ENSP00000343405:p.Gly287Arg	0					SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R	p.G287R	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		7	1021	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	1	1	hg19	c.859G>A	CCDS7332.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989466	0.93106	2.27E-4	0.0	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.25250	1.81;1.81;1.81	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.78314	0.691;0.991;0.86	T	0.50583	-0.8811	10	0.42905	T	0.14	-6.0416	20.0736	0.97735	0.0:0.0:1.0:0.0	.	145;287;287	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	145;287;287;145	ENSP00000321845:G287R;ENSP00000343405:G287R;ENSP00000402913:G145R	ENSP00000343405:G287R	G	+	1	0	0	SEC24C	75190485	75190485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.542000	0.98086	2.748000	0.94277	0.655000	0.94253	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-3.068781	1	0.170000				93	91		368	364	1		1	1		0	0	115	0		1	1	0	33	0	92	0	93	368
SEC24C	9632	broad.mit.edu	37	10	75526270	75526270	+	Silent	SNP	C	C	T	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.N471N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	590					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)			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)					TCCTGGTCAACGTCAATGAGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20476	0.001		0.0	False		,,,				2504	0.0					ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1768-1770)aaC>aaT		SEC24 family member C		C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	72.0	76.0		1770,1770	-0.2	1.0	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	590/1095,590/1095	75526270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9632	3	121412	36				g.chr10:75526270C>T	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.1770C>T	chr10.hg19:g.75526270C>T		0					SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000546025.1_3'UTR	p.N590N	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		13	1932	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	1	1	hg19	c.1770C>T	CCDS7332.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1		14	2	2	0		0	1	54		54	54	1	2.060000	-20.000000	1	0.170000				38	38		170	169	1		1	1		0	0	54	0		9.999055e-01	1	0	55	0	154	0	38	170
SEC24C	9632	broad.mit.edu	37	10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	754					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)			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)					TGCTGTGATGCGGGTCCGGAC	0.567																																						ENST00000339365.2	1.000000	0.680000	1	8.500000e-01	0.990000	0.947296	0.990000	1.000000																										0				32						c.(2260-2262)Cgg>Tgg		SEC24 family member C							175.0	139.0	151.0					10																	75528646		2203	4300	6503	SO:0001583	missense	9632	0	0					g.chr10:75528646C>T	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.2260C>T	chr10.hg19:g.75528646C>T	ENSP00000343405:p.Arg754Trp	0					SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000496827.1_3'UTR	p.R754W	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		17	2422	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	1	1	hg19	c.2260C>T	CCDS7332.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901965	0.72754	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.72	0.42706	5.72	3.72	0.42706	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.90145	3.09	0.80722	D	1	D;D;D	0.67145	0.991;0.994;0.996	P;P;P	0.59115	0.593;0.769;0.852	T	0.70741	-0.4789	10	0.87932	D	0	-8.8039	12.4733	0.55799	0.5246:0.4754:0.0:0.0	.	635;754;754	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	2;754;2;754;635	ENSP00000446174:R2W;ENSP00000321845:R754W;ENSP00000445023:R2W;ENSP00000343405:R754W;ENSP00000402913:R635W	ENSP00000343405:R754W	R	+	1	2	2	SEC24C	75198652	75198652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.691000	0.54720	1.382000	0.46385	0.467000	0.42956	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-2.774726	1	0.170000				22	22		230	226	1		1	1		0	0	40	0		9.999988e-01	9.999994e-01	0	36	0	225	0	22	230
SEC24C	9632	broad.mit.edu	37	10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	790					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)			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)					AAAACAGTGACTGTGGAGTTC	0.557																																						ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(2368-2370)aCt>aAt		SEC24 family member C							86.0	75.0	79.0					10																	75528855		2203	4300	6503	SO:0001583	missense	9632	0	0					g.chr10:75528855C>A	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.2369C>A	chr10.hg19:g.75528855C>A	ENSP00000343405:p.Thr790Asn	0					SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000496827.1_3'UTR	p.T790N	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		18	2531	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	1	1	hg19	c.2369C>A	CCDS7332.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631187	0.87660	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.72	5.72	0.89469	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.77;0.853;0.879	B;B;P	0.51701	0.258;0.444;0.677	D	0.84817	0.0794	10	0.66056	D	0.02	-13.5358	19.8791	0.96888	0.0:1.0:0.0:0.0	.	671;790;790	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	38;790;38;790;671	ENSP00000446174:T38N;ENSP00000321845:T790N;ENSP00000445023:T38N;ENSP00000343405:T790N;ENSP00000402913:T671N	ENSP00000343405:T790N	T	+	2	0	0	SEC24C	75198861	75198861	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.706000	0.92434	0.467000	0.42956	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.865120	1	0.170000				35	35		164	160	1		1	1		0	0	36	0		1	1	0	100	0	214	0	35	164
SEC24C	9632	broad.mit.edu	37	10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	815					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)			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)					TTTACACCAGCTGTGCAGGGC	0.537																																						ENST00000339365.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(2443-2445)agC>agA		SEC24 family member C							33.0	30.0	31.0					10																	75529125		2203	4300	6503	SO:0001583	missense	9632	0	0					g.chr10:75529125C>A	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.2445C>A	chr10.hg19:g.75529125C>A	ENSP00000343405:p.Ser815Arg	0					FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000496827.1_3'UTR|FUT11_ENST00000394790.1_5'Flank	p.S815R	NM_004922.3	NP_004913.2	1	2	3	2.008551	P53992	SC24C_HUMAN		19	2607	+	Prostate(51;0.0112)		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	1	1	hg19	c.2445C>A	CCDS7332.1	1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807703	0.70797	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.57	1.64	0.23874	5.57	1.64	0.23874	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.80847	2.515	0.80722	D	1	P;D	0.62365	0.951;0.991	P;P	0.58928	0.529;0.848	T	0.47661	-0.9100	10	0.59425	D	0.04	-7.4455	10.4308	0.44407	0.0:0.6285:0.0:0.3715	.	696;815	E7EP00;P53992	.;SC24C_HUMAN	R	63;815;63;815;696	ENSP00000446174:S63R;ENSP00000321845:S815R;ENSP00000445023:S63R;ENSP00000343405:S815R;ENSP00000402913:S696R	ENSP00000343405:S815R	S	+	3	2	2	SEC24C	75199131	75199131	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.774000	0.26675	0.723000	0.32274	0.313000	0.20887	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				30	29		124	124	1		1	1		0	0	32	0		1	1	0	43	0	122	0	30	124
FUT11	170384	broad.mit.edu	37	10	75532151	75532151	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	FUT11_ENST00000394790.1_Silent_p.A20A|AC022400.2_ENST00000595757.1_Silent_p.A76A|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	20					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731																																						ENST00000372841.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999799	0.990000	1.000000																										0				7						c.(58-60)gcA>gcG		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							22.0	23.0	23.0					10																	75532151		2197	4294	6491	SO:0001819	synonymous_variant	170384	0	0					g.chr10:75532151A>G	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.60A>G	chr10.hg19:g.75532151A>G		0					RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000394790.1_Silent_p.A20A|AC022400.2_ENST00000595757.1_Silent_p.A76A	p.A20A	NM_173540.2	NP_775811.2	1	2	3	2.008551	Q495W5	FUT11_HUMAN		1	103	+	Prostate(51;0.0112)		Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	1	1	hg19	c.60A>G	CCDS7333.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_173540			17	17		77	76	0		1	0		0	0	13	0		9.999792e-01	9.518988e-02	0	1	0	2	0	17	77
C10orf55	414236	broad.mit.edu	37	10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000409178.1	-	4	347	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	3										endometrium(1)	1	Prostate(51;0.0112)					TCTAAATGGAGGAACATGTGT	0.537																																						ENST00000409178.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(7-9)Ctc>Ttc		chromosome 10 open reading frame 55							110.0	98.0	102.0					10																	75671996		2203	4300	6503	SO:0001583	missense	414236	0	0					g.chr10:75671996G>A		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.7C>T	chr10.hg19:g.75671996G>A	ENSP00000386960:p.Leu3Phe	0					PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F	p.L3F	NM_001001791.2	NP_001001791.2	1	2	3	2.008551	Q5SWW7	CJ055_HUMAN		4	347	-	Prostate(51;0.0112)		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	1	1	hg19	c.7C>T	CCDS53541.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.07|19.07	3.756491|3.756491	0.69648|0.69648	.|.	.|.	ENSG00000122861|ENSG00000222047	ENST00000446342;ENST00000372764|ENST00000409178;ENST00000412307	D;D|.	0.88509|.	-2.39;-2.39|.	5.84|5.84	5.84|5.84	0.93424|0.93424	5.84|5.84	5.84|5.84	0.93424|0.93424	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46034|0.46034	0.1372|0.1372	N|N	0.08118|0.08118	0|0	0.30985|0.30985	N|N	0.722046|0.722046	D;D;D|D	0.89917|0.76494	1.0;1.0;1.0|0.999	D;D;D|D	0.91635|0.72982	0.999;0.999;0.998|0.979	T|T	0.54682|0.54682	-0.8257|-0.8257	10|8	0.87932|0.87932	D|D	0|0	.|.	15.6365|15.6365	0.76958|0.76958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;37;37|3	E7ET40;B2R7F2;P00749|Q5SWW7	.;.;UROK_HUMAN|CJ055_HUMAN	R|F	20;37|3	ENSP00000388474:G20R;ENSP00000361850:G37R|.	ENSP00000361850:G37R|ENSP00000386960:L3F	G|L	+|-	1|1	0|0	0|0	PLAU|C10orf55	75342002|75342002	75342002|75342002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	5.921000|5.921000	0.70028|0.70028	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.039967	1	0.170000	NM_001001791			49	49		254	245	1		1	1		0	0	63	0		1	1	0	13	0	220	0	49	254
VCL	7414	broad.mit.edu	37	10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000211998.4	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R680H|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	680	N-terminal globular head.				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)		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)					TCGGCTGCTCGTATCTTACTT	0.433																																						ENST00000211998.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									VCL/ALK(4)	0				20						c.(2038-2040)cGt>cAt		vinculin							186.0	148.0	161.0					10																	75863594		2203	4300	6503	SO:0001583	missense	7414	0	0					g.chr10:75863594G>A	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.2039G>A	chr10.hg19:g.75863594G>A	ENSP00000211998:p.Arg680His	0					VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R680H	p.R680H	NM_014000.2	NP_054706.1	1	2	3	2.008551	P18206	VINC_HUMAN		15	2133	+	Prostate(51;0.0112)		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	1	1	hg19	c.2039G>A	CCDS7341.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592370	0.86953	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.80764	0.96;0.797;0.994	T	0.65557	-0.6139	10	0.56958	D	0.05	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	607;680;680	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	680;680;587;607;352	ENSP00000361841:R680H;ENSP00000211998:R680H;ENSP00000415489:R352H	ENSP00000211998:R680H	R	+	2	0	0	VCL	75533600	75533600	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.209000	0.95087	2.788000	0.95919	0.557000	0.71058	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_003373, NM_014000			105	101		436	433	1		1	1		0	0	81	0		1	1	0	100	0	335	0	105	436
AP3M1	26985	broad.mit.edu	37	10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	152					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418																																						ENST00000355264.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(454-456)aAt>aGt		adaptor-related protein complex 3, mu 1 subunit							66.0	60.0	62.0					10																	75893913		2203	4300	6503	SO:0001583	missense	26985	1	121412	29				g.chr10:75893913T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.455A>G	chr10.hg19:g.75893913T>C	ENSP00000347408:p.Asn152Ser	0					AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	p.N152S	NM_012095.4	NP_036227.1	1	2	3	2.008551	Q9Y2T2	AP3M1_HUMAN		4	766	-	Prostate(51;0.0112)		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	1	1	hg19	c.455A>G	CCDS7342.1	1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972647	0.92919	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.46157	1.445	0.80722	D	1	B;B	0.23058	0.023;0.079	B;B	0.23852	0.024;0.049	T	0.69359	-0.5166	10	0.40728	T	0.16	-22.6387	16.2127	0.82178	0.0:0.0:0.0:1.0	.	98;152	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	S	152	ENSP00000347408:N152S;ENSP00000361831:N152S	ENSP00000347408:N152S	N	-	2	0	0	AP3M1	75563919	75563919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	AAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				48	47		221	218	1		1	1		0	0	82	0		1	9.999718e-01	0	20	0	55	0	48	221
DUPD1	338599	broad.mit.edu	37	10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	103	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGTCCATGTCGCGGTAGTAG	0.657																																						ENST00000338487.5	1.000000	0.230000	5.400000e-01	3.000000e-01	0.400000	0.454125	0.400000	0.380000																										0				11						c.(307-309)Gac>Aac		dual specificity phosphatase and pro isomerase domain containing 1							93.0	85.0	88.0					10																	76803669		2203	4300	6503	SO:0001583	missense	338599	0	0					g.chr10:76803669C>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.307G>A	chr10.hg19:g.76803669C>T	ENSP00000340609:p.Asp103Asn	0						p.D103N	NM_001003892.1	NP_001003892.1	1	2	3	2.008551	Q68J44	DUPD1_HUMAN		2	306	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	1	1	hg19	c.307G>A	CCDS31223.1	0	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377292	0.42105	.	.	ENSG00000188716	ENST00000338487	T	0.61158	0.13	4.93	4.02	0.46733	4.93	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052989	0.64402	D	0.000001	T	0.51176	0.1659	L	0.59967	1.855	0.51482	D	0.999928	B	0.23591	0.088	B	0.19666	0.026	T	0.45644	-0.9247	10	0.29301	T	0.29	-37.7159	11.4852	0.50350	0.0:0.8483:0.0:0.1517	.	103	Q68J44	DUPD1_HUMAN	N	103	ENSP00000340609:D103N	ENSP00000340609:D103N	D	-	1	0	0	DUPD1	76473675	76473675	0.998000	0.40836	0.994000	0.49952	0.446000	0.32137	3.767000	0.55288	1.055000	0.40461	0.650000	0.86243	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-14.413860	1	0.170000	XM_291741			16	16		474	464	0		1	0		0	0	78	0		9.999232e-01	1.261564e-03	0	0	0	2	0	16	474
DUSP13	51207	broad.mit.edu	37	10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000472493.2	-	4	619	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	181	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)			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)					AGCTGCCGGAGGAAGCCTGAG	0.622																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000472493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(541-543)Ctc>Atc		dual specificity phosphatase 13							71.0	59.0	63.0					10																	76854490		2203	4300	6503	SO:0001583	missense	51207	0	0					g.chr10:76854490G>T	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.541C>A	chr10.hg19:g.76854490G>T	ENSP00000444580:p.Leu181Ile	0					DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I	p.L181I	NM_016364.3	NP_057448.3	1	2	3	2.008551	Q9UII6	DS13B_HUMAN		4	619	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	1	1	hg19	c.541C>A	CCDS7346.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858370	0.91433	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.52	5.52	0.82312	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.52364	1.645	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72357	-0.4318	10	0.51188	T	0.08	-4.6071	19.4454	0.94844	0.0:0.0:1.0:0.0	.	231;310;181	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	I	181;181;310;274;130;231	ENSP00000311051:L181I;ENSP00000444580:L181I;ENSP00000436312:L310I;ENSP00000434041:L130I;ENSP00000361785:L231I	ENSP00000311051:L181I	L	-	1	0	0	DUSP13	76524496	76524496	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.287000	0.72671	2.586000	0.87340	0.655000	0.94253	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				38	38		162	161	1		1	0		0	0	35	0		1	0	0	1	0	0	0	38	162
DUSP13	51207	broad.mit.edu	37	10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	112					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)			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)					GTAGGCACTGATGTCAAAATC	0.607																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000372702.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(307-309)aTc>aGc		dual specificity phosphatase 13							42.0	52.0	49.0					10																	76867809		2056	4190	6246	SO:0001583	missense	51207	0	0					g.chr10:76867809A>C	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	ENST00000372702.3:c.308T>G	chr10.hg19:g.76867809A>C	ENSP00000361787:p.Ile103Ser	0					DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000491677.2_5'UTR	p.I103S			1	2	3	2.008551	Q9UII6	DS13B_HUMAN		2	371	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	1	1	hg19	c.308T>G	CCDS53542.1	1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927486	0.92389	.	.	ENSG00000079393	ENST00000372702	D	0.87966	-2.32	5.35	5.35	0.76521	5.35	5.35	0.76521	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.95007	0.8384	H	0.95574	3.69	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.96270	0.9198	9	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	103	Q6B8I1	MDSP_HUMAN	S	103	ENSP00000361787:I103S	ENSP00000361787:I103S	I	-	2	0	0	DUSP13	76537815	76537815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.420000	0.90256	2.244000	0.73946	0.533000	0.62120	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				36	35		123	122	1		1			0	0	31	0		1	0	0	0	0	0	0	36	123
SAMD8	142891	broad.mit.edu	37	10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000542569.1	+	4	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.4_Nonsense_Mutation_p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	230					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453																																						ENST00000542569.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(688-690)Cga>Tga		sterile alpha motif domain containing 8							309.0	291.0	297.0					10																	76928312		2203	4300	6503	SO:0001587	stop_gained	142891	0	0					g.chr10:76928312C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.688C>T	chr10.hg19:g.76928312C>T	ENSP00000438042:p.Arg230*	0					SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.4_Nonsense_Mutation_p.R230*	p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	1	2	3	2.008551	Q96LT4	SAMD8_HUMAN		4	791	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		Q5JSC5|Q5JSC8|Q66K52	Nonsense_Mutation	SNP	ENST00000542569.1	0	1	hg19	c.688C>T	CCDS53543.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.632714	0.96682	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.208	19.5724	0.95427	0.0:1.0:0.0:0.0	.	.	.	.	X	230;293;230;230	.	ENSP00000361772:R230X	R	+	1	2	2	SAMD8	76598318	76598318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.624000	0.88883	0.650000	0.86243	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	159		159	156	1	2.060000	-20.000000	1	0.170000	NM_144660			182	173		741	725	1		1	1		0	0	159	0		1	9.997651e-01	0	4	0	47	0	182	741
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	C	T	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286628.8	-	28	3587	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	KCNMA1_ENST00000286627.5_Silent_p.S1138S|KCNMA1_ENST00000404857.1_Silent_p.S1179S|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.S1165S|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.S1196S|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000354353.5_Silent_p.S1199S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1196					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGGAGGACTGCGACGAGTGGG	0.582																																						ENST00000286628.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3586-3588)tcG>tcA		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)						100.0	87.0	92.0					10																	78647147		2203	4300	6503	SO:0001819	synonymous_variant	3778	4	121412	38				g.chr10:78647147C>T	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.3588G>A	chr10.hg19:g.78647147C>T		0					KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.S1179S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000286627.5_Silent_p.S1138S|RP11-443A13.5_ENST00000458661.2_RNA	p.S1196S	NM_001161352.1	NP_001154824.1	1	2	3	2.008551	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	28	3587	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	1	1	hg19	c.3588G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828282|0.828282	0.16749|0.16749	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.11|5.11	0.661|0.661	0.17874|0.17874	5.11|5.11	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50583|0.50583	-0.8811|-0.8811	4|4	.|.	.|.	.|.	-9.7283|-9.7283	10.3757|10.3757	0.44081|0.44081	0.0:0.4673:0.3558:0.1768|0.0:0.4673:0.3558:0.1768	.|.	.|.	.|.	.|.	T|H	1127;846|1089	.|.	.|.	A|R	-|-	1|2	0|0	0|0	KCNMA1|KCNMA1	78317153|78317153	78317153|78317153	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.979000|0.979000	0.70002|0.70002	0.538000|0.538000	0.23160|0.23160	-0.168000|-0.168000	0.10853|0.10853	-0.384000|-0.384000	0.06662|0.06662	GCA|CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.497695	1	0.170000	NM_002247			89	86		376	369	1		1	0		0	0	88	0		1	9.998605e-01	0	0	0	57	0	89	376
KCNMA1	3778	broad.mit.edu	37	10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286628.8	-	26	3276	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1035T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1093					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCCTATTGGCCAGTGTCTGC	0.627																																						ENST00000286628.8	1.000000	0.740000	1	9.100000e-01	0.990000	0.968588	0.990000	1.000000																										0				68						c.(3277-3279)Gcc>Acc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)						46.0	44.0	44.0					10																	78651348		2203	4300	6503	SO:0001583	missense	3778	0	0					g.chr10:78651348C>T	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.3277G>A	chr10.hg19:g.78651348C>T	ENSP00000286628:p.Ala1093Thr	0					KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000458661.2_RNA	p.A1093T	NM_001161352.1	NP_001154824.1	1	2	3	2.008551	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	26	3276	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	1	1	hg19	c.3277G>A		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.138016|4.138016|4.138016	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.83992|.|.	-1.77;-1.79;-1.77;-1.78;-1.78;-1.77;-1.77;-1.78;-1.78|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.050022|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60287|0.60287|.	0.2257|0.2257|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;P;B;P;B|.|.	0.76494|.|.	0.999;0.249;0.364;0.892;0.544;0.141;0.539;0.249|.|.	D;B;B;P;B;B;B;B|.|.	0.74674|.|.	0.984;0.119;0.17;0.642;0.17;0.067;0.343;0.082|.|.	T|T|.	0.53927|0.53927|.	-0.8369|-0.8369|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-13.11|-13.11|-13.11	19.4341|19.4341|19.4341	0.94783|0.94783|0.94783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1064;1065;1076;1093;1035;846;1096;1062|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	T|D|X	1035;972;1028;1067;1030;1062;1035;1067;1097;1096;1076;846|1023;742|985	ENSP00000361517:A1035T;ENSP00000361485:A972T;ENSP00000361514:A1028T;ENSP00000396608:A1067T;ENSP00000361520:A1062T;ENSP00000286627:A1035T;ENSP00000385552:A1097T;ENSP00000346321:A1096T;ENSP00000385806:A1076T|.|.	ENSP00000286627:A1035T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	0|0|0	KCNMA1|KCNMA1|KCNMA1	78321354|78321354|78321354	78321354|78321354|78321354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.130000|0.130000|0.130000	0.20726|0.20726|0.20726	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|GGC|TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_002247			24	23		233	231	0		1	0		0	0	54	0		9.999997e-01	8.761206e-01	0	0	0	38	0	24	233
KCNMA1	3778	broad.mit.edu	37	10	78943289	78943289	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286628.8	-	5	697	c.698T>C	c.(697-699)tTt>tCt	p.F233S	KCNMA1_ENST00000286627.5_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	233					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCTGCAATAAACTGGGGGAA	0.418																																						ENST00000286628.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				68						c.(697-699)tTt>tCt		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)						56.0	52.0	53.0					10																	78943289		2203	4300	6503	SO:0001630	splice_region_variant	3778	0	0					g.chr10:78943289A>G	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.697-1T>C	chr10.hg19:g.78943289A>G		0					KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S|KCNMA1_ENST00000286627.5_Splice_Site_p.F233S	p.F233S	NM_001161352.1	NP_001154824.1	1	2	3	2.008551	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	5	697	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	0	1	hg19	c.698T>C		1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695036	0.88830	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.92	5.92	0.95590	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;0.998;1.0;0.996;0.998	D	0.99893	1.1140	10	0.87932	D	0	-10.5967	16.3593	0.83251	1.0:0.0:0.0:0.0	.	233;233;233;233;233;233	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.	S	233;170;168;207;170;233;233;207;233;233;233;15	ENSP00000361517:F233S;ENSP00000361485:F170S;ENSP00000361514:F168S;ENSP00000396608:F207S;ENSP00000361520:F233S;ENSP00000286627:F233S;ENSP00000385552:F233S;ENSP00000346321:F233S;ENSP00000385806:F233S	ENSP00000286627:F233S	F	-	2	0	0	KCNMA1	78613295	78613295	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.203000	0.95033	2.267000	0.75376	0.383000	0.25322	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_002247	Missense_Mutation		26	26		113	111	0		1	0		0	0	30	0		1	9.171297e-01	0	0	0	21	0	26	113
KCNMA1	3778	broad.mit.edu	37	10	78944632	78944632	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286628.8	-	4	644	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000286627.5_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	215					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGTCGATCTGTAATGTGAAAT	0.413																																						ENST00000286628.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(643-645)ttA>ttG		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)						179.0	161.0	167.0					10																	78944632		2203	4300	6503	SO:0001819	synonymous_variant	3778	0	0					g.chr10:78944632T>C	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.645A>G	chr10.hg19:g.78944632T>C		0					KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000286627.5_Silent_p.L215L	p.L215L	NM_001161352.1	NP_001154824.1	1	2	3	2.008551	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	4	644	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	1	1	hg19	c.645A>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.680|7.680	0.688727|0.688727	0.14973|0.14973	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	2.98|2.98	0.34508|0.34508	5.31|5.31	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44651|0.44651	-0.9314|-0.9314	4|4	.|.	.|.	.|.	-8.5752|-8.5752	5.3325|5.3325	0.15940|0.15940	0.1298:0.1414:0.0:0.7288|0.1298:0.1414:0.0:0.7288	.|.	.|.	.|.	.|.	A|C	204|166	.|.	.|.	T|Y	-|-	1|2	0|0	0|0	KCNMA1|KCNMA1	78614638|78614638	78614638|78614638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.531000|2.531000	0.45650|0.45650	0.531000|0.531000	0.28639|0.28639	-0.256000|-0.256000	0.11100|0.11100	ACA|TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_002247			114	113		436	423	1		1	0		0	0	132	0		1	9.957252e-01	0	0	0	34	0	114	436
DLG5	9231	broad.mit.edu	37	10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	244					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)			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)			AGCATGTCCACGTCATCCTTC	0.627																																						ENST00000372391.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				60						c.(730-732)Gtg>Atg		discs, large homolog 5 (Drosophila)							46.0	35.0	39.0					10																	79613246		2203	4300	6503	SO:0001583	missense	9231	0	0					g.chr10:79613246C>T	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.730G>A	chr10.hg19:g.79613246C>T	ENSP00000361467:p.Val244Met	0					DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	p.V244M	NM_004747.3	NP_004738.3	1	2	3	2.008551	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)	5	735	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	1	1	hg19	c.730G>A	CCDS7353.2	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654864	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04862	3.57;3.54	4.6	2.7	0.31948	4.6	2.7	0.31948	.	0.459506	0.16221	N	0.224044	T	0.01800	0.0057	N	0.01576	-0.805	0.23546	N	0.997444	B	0.31705	0.336	B	0.12837	0.008	T	0.42155	-0.9468	10	0.44086	T	0.13	.	3.1793	0.06579	0.1891:0.495:0.0:0.3159	.	244	Q8TDM6	DLG5_HUMAN	M	244	ENSP00000361467:V244M;ENSP00000361464:V244M	ENSP00000361464:V244M	V	-	1	0	0	DLG5	79283252	79283252	0.855000	0.29742	0.691000	0.30163	0.980000	0.70556	1.338000	0.33873	0.460000	0.27045	0.655000	0.94253	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000				20	19		88	84	1		1	1		0	0	19	0		9.999963e-01	9.989314e-01	0	5	0	48	0	20	88
ZMIZ1	57178	broad.mit.edu	37	10	81037008	81037008	+	Silent	SNP	C	C	T	rs373895979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	117					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)			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)			GCCGCCAGAGCGATCCCCCTG	0.622																																						ENST00000334512.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(349-351)agC>agT		zinc finger, MIZ-type containing 1		C		1,4405	2.1+/-5.4	0,1,2202	54.0	51.0	52.0		351	-0.2	1.0	10		52	0,8600		0,0,4300	no	coding-synonymous	ZMIZ1	NM_020338.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		117/1068	81037008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57178	4	121410	35				g.chr10:81037008C>T	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.351C>T	chr10.hg19:g.81037008C>T		0					ZMIZ1_ENST00000478357.1_3'UTR	p.S117S	NM_020338.3	NP_065071.1	1	2	3	2.008551	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)	8	923	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	1	1	hg19	c.351C>T	CCDS7357.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.589889	1	0.170000	NM_020338			55	55		225	219	1		1	1		0	0	59	0		1	1	0	11	0	103	0	55	225
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372336.3	-	2	489	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R42C	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	101							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617																																						ENST00000372336.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				9						c.(301-303)atC>atT		zinc finger, CCHC domain containing 24							93.0	68.0	76.0					10																	81192458		2203	4300	6503	SO:0001819	synonymous_variant	219654	0	0					g.chr10:81192458G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.303C>T	chr10.hg19:g.81192458G>A		0					ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R42C	p.I101I	NM_153367.3	NP_699198.2	1	2	3	2.008551	Q8N2G6	ZCH24_HUMAN		2	489	-			Q5U5T9|Q8TAG0	Silent	SNP	ENST00000372336.3	1	1	hg19	c.303C>T	CCDS7359.1	1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912981	0.17907	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	-0.211	0.13172	5.96	-0.211	0.13172	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.31535	N	0.660723	B	0.13145	0.007	B	0.09377	0.004	T	0.26643	-1.0097	7	0.87932	D	0	-7.9604	7.8954	0.29704	0.4477:0.0:0.4252:0.1272	.	42	Q5W133	.	C	42	.	ENSP00000361408:R42C	R	-	1	0	0	ZCCHC24	80862464	80862464	0.994000	0.37717	0.856000	0.33681	0.836000	0.47400	0.284000	0.18864	-0.561000	0.06094	-2.048000	0.00412	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_153367			38	36		200	197	1		1	0		0	0	55	0		1	9.999890e-01	0	0	0	95	0	38	200
EIF5AL1	143244	broad.mit.edu	37	10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	113					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552																																						ENST00000520547.2	1.000000	0.620000	1	7.300000e-01	0.850000	0.857889	0.850000	1.000000																										0				1						c.(337-339)Cgt>Tgt		eukaryotic translation initiation factor 5A-like 1							62.0	74.0	70.0					10																	81272742		2199	4295	6494	SO:0001583	missense	143244	1	121364	35				g.chr10:81272742C>T		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.337C>T	chr10.hg19:g.81272742C>T	ENSP00000430706:p.Arg113Cys	0					AL133481.1_ENST00000538322.1_5'Flank	p.R113C	NM_001099692.1	NP_001093162.1	1	2	3	2.008551	Q6IS14	IF5AL_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)	1	386	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)			Missense_Mutation	SNP	ENST00000520547.2	1	1	hg19	c.337C>T	CCDS53546.1	1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265789	0.23136	.	.	ENSG00000253626	ENST00000520547	T	0.47177	0.85	1.02	-2.03	0.07365	1.02	-2.03	0.07365	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.34106	0.0886	L	0.53617	1.68	0.29802	N	0.832317	B	0.21520	0.057	B	0.17098	0.017	T	0.39522	-0.9610	9	0.59425	D	0.04	.	0.3345	0.00324	0.2341:0.3108:0.234:0.2211	.	113	Q6IS14	IF5AL_HUMAN	C	113	ENSP00000430706:R113C	ENSP00000430706:R113C	R	+	1	0	0	EIF5AL1	80942748	80942748	0.013000	0.17824	0.870000	0.34147	0.417000	0.31264	-0.061000	0.11693	-0.418000	0.07450	-0.604000	0.04097	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	0	0	1		2	2	2	0		0	0	153		153	180	1	2.060000	-3.142702	1	0.170000	NM_001099692			45	43		588	540	0		1	0		0	0	153	0		1	2.889960e-02	0	0	0	4	0	45	588
SFTPA1	653509	broad.mit.edu	37	10	81372118	81372118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000398636.3	+	4	361	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	75	Collagen-like.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607																																						ENST00000398636.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(223-225)Ctg>Ttg		surfactant protein A1							146.0	156.0	153.0					10																	81372118		2203	4296	6499	SO:0001819	synonymous_variant	653509	0	0					g.chr10:81372118C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.223C>T	chr10.hg19:g.81372118C>T		0					SFTPA1_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000419470.2_Silent_p.L90L	p.L75L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	1	2	3	2.008551	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)	4	361	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	1	1	hg19	c.223C>T	CCDS44445.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	206		206	203	1	2.060000	-20.000000	1	0.170000	NM_005411			179	173		775	755	1		1	0		0	0	206	0		1	0	0	0	0	1	0	179	775
SFTPD	6441	broad.mit.edu	37	10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	141	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607																																						ENST00000372292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(421-423)gCt>gAt		surfactant protein D							87.0	79.0	82.0					10																	81702155		2203	4300	6503	SO:0001583	missense	6441	0	0					g.chr10:81702155G>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.422C>A	chr10.hg19:g.81702155G>T	ENSP00000361366:p.Ala141Asp	0						p.A141D	NM_003019.4	NP_003010.4	1	2	3	2.008551	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)	4	462	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	1	1	hg19	c.422C>A	CCDS7362.1	1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875673	0.51695	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.55234	0.53;0.53	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.705366	0.12727	N	0.444178	T	0.41166	0.1147	L	0.28400	0.85	0.39602	D	0.969755	P	0.40476	0.718	B	0.39379	0.298	T	0.17592	-1.0364	10	0.12103	T	0.63	0.1107	13.8133	0.63276	0.0:0.0:1.0:0.0	.	141	P35247	SFTPD_HUMAN	D	141;154	ENSP00000361366:A141D;ENSP00000394325:A154D	ENSP00000361366:A141D	A	-	2	0	0	SFTPD	81692135	81692135	0.071000	0.21146	0.996000	0.52242	0.865000	0.49528	0.992000	0.29667	2.311000	0.77944	0.457000	0.33378	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000				54	54		232	229	1		1	0		0	0	51	0		1	9.646820e-02	0	0	0	3	0	54	232
ANXA11	311	broad.mit.edu	37	10	81932582	81932582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	12					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGGTGGGTAGCCACCTGGGG	0.597																																						ENST00000438331.1	1.000000	0.200000	4.900000e-01	2.700000e-01	0.350000	0.413428	0.350000	0.340000																										0				17						c.(34-36)ggC>ggA		annexin A11							78.0	81.0	80.0					10																	81932582		2203	4300	6503	SO:0001819	synonymous_variant	311	0	0					g.chr10:81932582G>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.36C>A	chr10.hg19:g.81932582G>T		0					ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000265447.4_Silent_p.G12G	p.G12G	NM_145869.1	NP_665876.1	1	2	3	2.008551	P50995	ANX11_HUMAN	Colorectal(32;0.109)	4	518	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		B4DVE7	Silent	SNP	ENST00000438331.1	1	1	hg19	c.36C>A	CCDS7364.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.083669	1	0.170000	NM_145869			15	14		503	491	0		1	1		0	0	69	0		9.998477e-01	9.999995e-01	0	55	0	917	0	15	503
MAT1A	4143	broad.mit.edu	37	10	82043688	82043688	+	Silent	SNP	G	G	A	rs184358377	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82043688G>A	ENST00000372213.3	-	3	536	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	92					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGAGTCATCGTAGCCGATGT	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19460	0.0		0.002	False		,,,				2504	0.0					ENST00000372213.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(274-276)taC>taT		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						142.0	102.0	116.0					10																	82043688		2203	4300	6503	SO:0001819	synonymous_variant	4143	17	121412	40				g.chr10:82043688G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.276C>T	chr10.hg19:g.82043688G>A		0						p.Y92Y	NM_000429.2	NP_000420.1	1	2	3	2.008551	Q00266	METK1_HUMAN	Colorectal(32;0.229)	3	536	-			D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	1	0	hg19	c.276C>T	CCDS7365.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-1.418985	0	0.170000	NM_000429			39	39		189	184	1		1	0		0	0	61	0		1	3.086768e-02	0	0	0	2	0	39	189
SH2D4B	387694	broad.mit.edu	37	10	82331321	82331321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82331321A>C	ENST00000470604.2	+	3	479	c.479A>C	c.(478-480)cAc>cCc	p.H160P	SH2D4B_ENST00000339284.2_Missense_Mutation_p.H161P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	160	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAACGCATCCACGAGGAATTC	0.592																																						ENST00000470604.2	1.000000	0.130000	4.700000e-01	2.000000e-01	0.310000	0.370980	0.310000	0.280000																										0				13						c.(478-480)cAc>cCc		SH2 domain containing 4B							66.0	63.0	64.0					10																	82331321		2203	4300	6503	SO:0001583	missense	387694	0	0					g.chr10:82331321A>C		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.479A>C	chr10.hg19:g.82331321A>C	ENSP00000417953:p.His160Pro	0					SH2D4B_ENST00000339284.2_Missense_Mutation_p.H161P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P	p.H160P			1	2	3	2.008551	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)	3	479	+			Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	0	1	hg19	c.479A>C		0	.	.	.	.	.	.	.	.	.	.	A	4.671	0.124666	0.08931	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.11495	2.77;2.77;2.77	5.64	2.0	0.26442	5.64	2.0	0.26442	.	0.550749	0.17151	N	0.185041	T	0.05868	0.0153	N	0.11427	0.14	0.09310	N	0.999999	B;D	0.53151	0.209;0.958	B;P	0.44990	0.081;0.466	T	0.33163	-0.9879	10	0.29301	T	0.29	-14.738	5.6807	0.17774	0.702:0.1438:0.1542:0.0	.	112;161	Q5SQS7-3;Q5SQS7-2	.;.	P	161;160;160;112	ENSP00000345295:H161P;ENSP00000417953:H160P;ENSP00000314242:H112P	ENSP00000314242:H112P	H	+	2	0	0	SH2D4B	82321301	82321301	0.984000	0.35163	0.127000	0.21898	0.417000	0.31264	3.202000	0.51067	0.094000	0.17404	0.459000	0.35465	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-8.044368	1	0.170000	XM_351984			7	7		287	282	0		1			0	0	77	0		9.797383e-01	0	0	0	0	0	0	7	287
GHITM	27069	broad.mit.edu	37	10	85901277	85901277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85901277G>A	ENST00000372134.3	+	2	214	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	7					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAAGGCTGGTGTGTCTCCGGA	0.468																																						ENST00000372134.3	1.000000	0.220000	5.500000e-01	3.000000e-01	0.400000	0.452900	0.400000	0.380000																										0				10						c.(19-21)gtG>gtA		growth hormone inducible transmembrane protein							91.0	90.0	90.0					10																	85901277		1913	4133	6046	SO:0001819	synonymous_variant	27069	0	0					g.chr10:85901277G>A	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.21G>A	chr10.hg19:g.85901277G>A		0					RP11-338I21.1_ENST00000606511.1_RNA	p.V7V	NM_014394.2	NP_055209.2	1	2	3	2.008551	Q9H3K2	GHITM_HUMAN		2	214	+			A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	1	1	hg19	c.21G>A	CCDS41542.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-13.322940	1	0.170000	NM_014394			14	14		419	413	0		1	1		0	0	83	0		9.997386e-01	9.999893e-01	0	18	0	625	0	14	419
CDHR1	92211	broad.mit.edu	37	10	85955302	85955302	+	Silent	SNP	C	C	T	rs143674495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCAGCACCAACGGAAACATGG	0.597													C|||	7	0.00139776	0.0	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0072					ENST00000372117.3	1.000000	0.490000	1	6.600000e-01	0.900000	0.855721	0.900000	1.000000																										0				36						c.(106-108)aaC>aaT		cadherin-related family member 1							142.0	121.0	128.0					10																	85955302		2203	4300	6503	SO:0001819	synonymous_variant	92211	35	121412	47				g.chr10:85955302C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.108C>T	chr10.hg19:g.85955302C>T		0					CDHR1_ENST00000332904.3_Silent_p.N36N	p.N36N	NM_033100.2	NP_149091.1	1	2	3	2.008551	Q96JP9	CDHR1_HUMAN		2	211	+			Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	1	1	hg19	c.108C>T	CCDS7372.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-16.443520	1	0.170000	NM_033100			12	12		153	152	0		1			0	0	40	0		9.991997e-01	0	0	0	0	0	0	12	153
CDHR1	92211	broad.mit.edu	37	10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	722					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637																																						ENST00000372117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2164-2166)Gcc>Acc		cadherin-related family member 1							64.0	70.0	68.0					10																	85973961		2203	4299	6502	SO:0001583	missense	92211	1	121410	31				g.chr10:85973961G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2164G>A	chr10.hg19:g.85973961G>A	ENSP00000361189:p.Ala722Thr	0					CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T	p.A722T	NM_033100.2	NP_149091.1	1	2	3	2.008551	Q96JP9	CDHR1_HUMAN		17	2267	+			Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	1	1	hg19	c.2164G>A	CCDS7372.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.544279	0.96488	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58652	0.56;0.32	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.094075	0.64402	D	0.000001	T	0.75148	0.3810	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69479	0.9;0.964	T	0.75852	-0.3171	10	0.52906	T	0.07	-17.1913	18.2273	0.89921	0.0:0.0:1.0:0.0	.	426;722	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	722;426	ENSP00000361189:A722T;ENSP00000415980:A426T	ENSP00000361189:A722T	A	+	1	0	0	CDHR1	85963941	85963941	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.632000	0.83247	2.596000	0.87737	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1		2	2	2	0		0	0	135		135	131	1	2.060000	-3.216429	1	0.170000	NM_033100			123	119		524	507	1		1	0		0	0	135	0		1	0	0	0	0	1	0	123	524
CDHR1	92211	broad.mit.edu	37	10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	788	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592																																						ENST00000372117.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999267	0.990000	1.000000																										0				36						c.(2362-2364)Ctc>Atc		cadherin-related family member 1							88.0	85.0	86.0					10																	85974159		2203	4300	6503	SO:0001583	missense	92211	0	0					g.chr10:85974159C>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2362C>A	chr10.hg19:g.85974159C>A	ENSP00000361189:p.Leu788Ile	0					CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I	p.L788I	NM_033100.2	NP_149091.1	1	2	3	2.008551	Q96JP9	CDHR1_HUMAN		17	2465	+			Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	1	1	hg19	c.2362C>A	CCDS7372.1	1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127601	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56275	0.63;0.47	5.49	3.6	0.41247	5.49	3.6	0.41247	.	0.193736	0.56097	D	0.000028	T	0.32224	0.0822	N	0.14661	0.345	0.21220	N	0.999757	B;B	0.18610	0.001;0.029	B;B	0.13407	0.0;0.009	T	0.14200	-1.0481	10	0.16896	T	0.51	-21.5171	11.5494	0.50713	0.1411:0.7231:0.1357:0.0	.	492;788	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	788;492	ENSP00000361189:L788I;ENSP00000415980:L492I	ENSP00000361189:L788I	L	+	1	0	0	CDHR1	85964139	85964139	0.501000	0.26099	0.518000	0.27811	0.416000	0.31233	2.253000	0.43205	0.653000	0.30826	0.591000	0.81541	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	0		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_033100			85	84		725	711	1		1			0	0	143	0		1	0	0	0	0	0	0	85	725
CDHR1	92211	broad.mit.edu	37	10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	801	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602																																						ENST00000372117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2401-2403)Gcg>Acg		cadherin-related family member 1							83.0	88.0	86.0					10																	85974198		2203	4300	6503	SO:0001583	missense	92211	0	0					g.chr10:85974198G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2401G>A	chr10.hg19:g.85974198G>A	ENSP00000361189:p.Ala801Thr	0					CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T	p.A801T	NM_033100.2	NP_149091.1	1	2	3	2.008551	Q96JP9	CDHR1_HUMAN		17	2504	+			Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	1	1	hg19	c.2401G>A	CCDS7372.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833474	0.32421	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56776	0.61;0.44	5.49	2.03	0.26663	5.49	2.03	0.26663	.	0.963762	0.08721	N	0.903404	T	0.40222	0.1108	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.017;0.418	B;B	0.27380	0.004;0.079	T	0.33650	-0.9860	10	0.49607	T	0.09	-16.1193	4.2007	0.10464	0.143:0.1398:0.5748:0.1425	.	505;801	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	801;505	ENSP00000361189:A801T;ENSP00000415980:A505T	ENSP00000361189:A801T	A	+	1	0	0	CDHR1	85964178	85964178	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	1.349000	0.33998	0.643000	0.30638	-0.282000	0.10007	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	0		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_033100			172	166		735	720	1		1			0	0	149	0		1	0	0	0	0	0	0	172	735
LRIT2	340745	broad.mit.edu	37	10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453																																						ENST00000372113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(148-150)cCt>cTt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							62.0	68.0	66.0					10																	85984832		2174	4290	6464	SO:0001583	missense	340745	0	0					g.chr10:85984832G>A		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.149C>T	chr10.hg19:g.85984832G>A	ENSP00000361185:p.Pro50Leu	0					LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	p.P50L	NM_001017924.2	NP_001017924.1	1	2	3	2.008551	A6NDA9	LRIT2_HUMAN		2	154	-			B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	1	1	hg19	c.149C>T	CCDS31234.1	1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977243	0.34848	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60920	0.15;0.15	5.71	2.51	0.30379	5.71	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.121035	0.56097	D	0.000024	T	0.50905	0.1643	M	0.64567	1.98	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.41236	0.351;0.351	T	0.51585	-0.8687	10	0.59425	D	0.04	.	8.0511	0.30579	0.118:0.0:0.7202:0.1618	.	50;50	B7ZME6;A6NDA9	.;LRIT2_HUMAN	L	50	ENSP00000361185:P50L;ENSP00000438264:P50L	ENSP00000361185:P50L	P	-	2	0	0	LRIT2	85974812	85974812	1.000000	0.71417	0.563000	0.28383	0.537000	0.34900	5.317000	0.65822	0.603000	0.29913	0.585000	0.79938	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-2.673519	1	0.170000	XM_291697			64	64		340	327	1		1			0	0	93	0		1	0	0	0	0	0	0	64	340
LRIT1	26103	broad.mit.edu	37	10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A	rs371581070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	80						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721																																						ENST00000372105.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				23						c.(238-240)aGg>aTg		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1		C	MET/ARG	0,4298		0,0,2149	17.0	21.0	20.0		239	-0.9	0.0	10		20	1,8437		0,1,4218	no	missense	LRIT1	NM_015613.2	91	0,1,6367	AA,AC,CC		0.0119,0.0,0.0079	benign	80/624	85997326	1,12735	2149	4219	6368	SO:0001583	missense	26103	4	120240	35				g.chr10:85997326C>A	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.239G>T	chr10.hg19:g.85997326C>A	ENSP00000361177:p.Arg80Met	0						p.R80M	NM_015613.2	NP_056428.1	1	2	3	2.008551	Q9P2V4	LRIT1_HUMAN		2	260	-			Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	1	1	hg19	c.239G>T	CCDS7373.1	1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086511	0.36855	0.0	1.19E-4	ENSG00000148602	ENST00000372105	T	0.52983	0.64	5.42	-0.953	0.10362	5.42	-0.953	0.10362	.	1.510790	0.03923	N	0.283947	T	0.42471	0.1204	M	0.73319	2.225	0.09310	N	1	P	0.37101	0.582	B	0.37198	0.243	T	0.23726	-1.0180	10	0.33141	T	0.24	.	0.1121	0.00057	0.3439:0.22:0.1707:0.2655	.	80	Q9P2V4	LRIT1_HUMAN	M	80	ENSP00000361177:R80M	ENSP00000361177:R80M	R	-	2	0	0	LRIT1	85987306	85987306	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	0.770000	0.26618	-0.040000	0.13580	0.650000	0.86243	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_015613			41	40		200	196	1		1			0	0	34	0		1	0	0	0	0	0	0	41	200
RGR	5995	broad.mit.edu	37	10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	167					chemotaxis (GO:0006935)|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)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(511-513)tCc>tAc		retinal G protein coupled receptor							59.0	46.0	50.0					10																	86012754		2203	4300	6503	SO:0001583	missense	5995	0	0					g.chr10:86012754C>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.512C>A	chr10.hg19:g.86012754C>A	ENSP00000352427:p.Ser171Tyr	0					RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	p.S171Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	1	2	3	2.008551	P47804	RGR_HUMAN		4	550	+			A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	1	1	hg19	c.512C>A	CCDS7374.1	1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452780	0.63290	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.92	3.93	0.45458	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175561	0.64402	D	0.000013	T	0.52208	0.1720	L	0.56769	1.78	0.49213	D	0.999762	D;D;B	0.89917	0.96;1.0;0.051	P;D;B	0.70935	0.6;0.971;0.102	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.1354	0.59405	0.0:0.7335:0.2664:0.0	.	167;171;167	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	Y	171;167	ENSP00000352427:S171Y;ENSP00000350823:S167Y	ENSP00000350823:S167Y	S	+	2	0	0	RGR	86002734	86002734	0.997000	0.39634	0.990000	0.47175	0.971000	0.66376	1.366000	0.34193	2.667000	0.90743	0.655000	0.94253	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_002921			45	43		176	174	1		1			0	0	39	0		1	0	0	0	0	0	0	45	176
GRID1	2894	broad.mit.edu	37	10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000536331.1_Missense_Mutation_p.S389N|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	818					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)			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						GGCCTGGGCGCTGGCATGGCT	0.647										Multiple Myeloma(13;0.14)																												ENST00000327946.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(2452-2454)aGc>aAc		glutamate receptor, ionotropic, delta 1							66.0	73.0	70.0					10																	87373312		2203	4300	6503	SO:0001583	missense	2894	0	0					g.chr10:87373312C>T	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.2453G>A	chr10.hg19:g.87373312C>T	ENSP00000330148:p.Ser818Asn	0	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.S389N|GRID1_ENST00000552278.2_5'Flank	p.S818N	NM_017551.2	NP_060021.1	1	2	3	2.008551	Q9ULK0	GRID1_HUMAN		15	2538	-			B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	1	1	hg19	c.2453G>A	CCDS31236.1	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344150	0.24339	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15017	2.64;2.46	5.74	4.84	0.62591	5.74	4.84	0.62591	Ionotropic glutamate receptor (1);	0.732309	0.14818	N	0.296678	T	0.08403	0.0209	N	0.10645	0.015	0.21675	N	0.999598	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.22706	T	0.39	.	7.7553	0.28921	0.0:0.7523:0.0:0.2477	.	818	Q9ULK0	GRID1_HUMAN	N	818;389	ENSP00000330148:S818N;ENSP00000444455:S389N	ENSP00000330148:S818N	S	-	2	0	0	GRID1	87363292	87363292	0.002000	0.14202	0.856000	0.33681	0.776000	0.43924	0.701000	0.25616	1.433000	0.47394	0.650000	0.86243	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	XM_043613			100	99		423	410	1		1	0		0	0	99	0		1	9.981454e-01	0	0	0	42	0	100	423
GRID1	2894	broad.mit.edu	37	10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762					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)			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						ATGCTGTTGCCGATGACAGTC	0.582										Multiple Myeloma(13;0.14)																												ENST00000327946.7	1.000000	0.750000	1	9.200000e-01	0.990000	0.970878	0.990000	1.000000																										0				106						c.(2284-2286)Ggc>Agc		glutamate receptor, ionotropic, delta 1							131.0	96.0	108.0					10																	87379700		2203	4300	6503	SO:0001583	missense	2894	1	121412	28				g.chr10:87379700C>T	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.2284G>A	chr10.hg19:g.87379700C>T	ENSP00000330148:p.Gly762Ser	0	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	p.G762S	NM_017551.2	NP_060021.1	1	2	3	2.008551	Q9ULK0	GRID1_HUMAN		14	2369	-			B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	1	1	hg19	c.2284G>A	CCDS31236.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851330	0.71719	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14640	2.49;2.49	5.28	1.4	0.22301	5.28	1.4	0.22301	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.199677	0.52532	N	0.000065	T	0.21227	0.0511	M	0.85542	2.76	0.80722	D	1	P	0.45715	0.865	B	0.43194	0.411	T	0.03555	-1.1025	10	0.59425	D	0.04	.	9.3267	0.37997	0.0:0.7095:0.0:0.2905	.	762	Q9ULK0	GRID1_HUMAN	S	762;333	ENSP00000330148:G762S;ENSP00000444455:G333S	ENSP00000330148:G762S	G	-	1	0	0	GRID1	87369680	87369680	0.902000	0.30710	0.140000	0.22221	0.797000	0.45037	1.842000	0.39250	-0.002000	0.14469	-0.291000	0.09656	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.806910	1	0.170000	XM_043613			27	26		263	262	0		1	0		0	0	69	0		1	9.391074e-01	0	0	0	48	0	27	263
GRID1	2894	broad.mit.edu	37	10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622					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)			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						ACGGAAGATTCGCCACCTGCG	0.602										Multiple Myeloma(13;0.14)																												ENST00000327946.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				106						c.(1864-1866)Gaa>Aaa		glutamate receptor, ionotropic, delta 1		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	101.0	74.0	83.0		1864	5.8	0.1	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRID1	NM_017551.2	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	622/1010	87482893	2,13004	2203	4300	6503	SO:0001583	missense	2894	13	121410	38				g.chr10:87482893C>T	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.1864G>A	chr10.hg19:g.87482893C>T	ENSP00000330148:p.Glu622Lys	0	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	p.E622K	NM_017551.2	NP_060021.1	1	2	3	2.008551	Q9ULK0	GRID1_HUMAN		12	1949	-			B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	1	1	hg19	c.1864G>A	CCDS31236.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.036777	0.97226	2.27E-4	1.16E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54071	0.59;0.59	5.83	5.83	0.93111	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.358222	0.33959	N	0.004383	T	0.57036	0.2026	M	0.83774	2.66	0.80722	D	1	P	0.39847	0.691	B	0.31390	0.129	T	0.66516	-0.5904	10	0.72032	D	0.01	.	19.0942	0.93242	0.0:1.0:0.0:0.0	.	622	Q9ULK0	GRID1_HUMAN	K	622;193	ENSP00000330148:E622K;ENSP00000444455:E193K	ENSP00000330148:E622K	E	-	1	0	0	GRID1	87472873	87472873	1.000000	0.71417	0.118000	0.21660	0.398000	0.30690	7.743000	0.85020	2.762000	0.94881	0.561000	0.74099	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	XM_043613			30	30		151	151	1		1	0		0	0	49	0		1	9.927264e-01	0	0	0	42	0	30	151
GRID1	2894	broad.mit.edu	37	10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	74					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)			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						CCTGCACAGCCTGGAATGGGT	0.627										Multiple Myeloma(13;0.14)																												ENST00000327946.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				106						c.(220-222)caG>caT		glutamate receptor, ionotropic, delta 1							242.0	154.0	183.0					10																	88123711		2203	4300	6503	SO:0001583	missense	2894	0	0					g.chr10:88123711C>A	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.222G>T	chr10.hg19:g.88123711C>A	ENSP00000330148:p.Gln74His	0	Multiple Myeloma(13;0.14)					p.Q74H	NM_017551.2	NP_060021.1	1	2	3	2.008551	Q9ULK0	GRID1_HUMAN		2	307	-			B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	1	1	hg19	c.222G>T	CCDS31236.1	1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477742	0.44044	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	4.96	4.06	0.47325	4.96	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.194154	0.33382	N	0.004973	T	0.69895	0.3162	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60667	-0.7218	10	0.25106	T	0.35	.	5.0502	0.14505	0.1782:0.6465:0.0:0.1754	.	74	Q9ULK0	GRID1_HUMAN	H	74	ENSP00000330148:Q74H	ENSP00000330148:Q74H	Q	-	3	2	2	GRID1	88113691	88113691	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.223000	0.58587	1.087000	0.41251	-0.347000	0.07816	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	XM_043613			47	46		296	293	1		1	0		0	0	55	0		1	7.801836e-01	0	1	0	19	0	47	296
WAPAL	23063	broad.mit.edu	37	10	88211754	88211754	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1028	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)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408																																						ENST00000298767.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3082-3084)ggA>ggG		wings apart-like homolog (Drosophila)							169.0	143.0	152.0					10																	88211754		2203	4300	6503	SO:0001819	synonymous_variant	23063	0	0					g.chr10:88211754T>C	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.3084A>G	chr10.hg19:g.88211754T>C		0					WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	p.G1028G	NM_015045.2	NP_055860.1	1	2	3	2.008551	Q7Z5K2	WAPL_HUMAN		15	3556	-			A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	1	1	hg19	c.3084A>G	CCDS7375.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_015045			82	82		350	345	1		1	1		0	0	84	0		1	9.999999e-01	0	17	0	83	0	82	350
OPN4	94233	broad.mit.edu	37	10	88419688	88419688	+	Silent	SNP	C	C	T	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000241891.5	+	6	1004	c.837C>T	c.(835-837)ggC>ggT	p.G279G	OPN4_ENST00000372071.2_Silent_p.G290G	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	279					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632																																						ENST00000241891.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(835-837)ggC>ggT		opsin 4							103.0	75.0	84.0					10																	88419688		2203	4300	6503	SO:0001819	synonymous_variant	94233	3	121412	35				g.chr10:88419688C>T	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.837C>T	chr10.hg19:g.88419688C>T		0					OPN4_ENST00000372071.2_Silent_p.G290G	p.G279G	NM_033282.3	NP_150598.1	1	2	3	2.008551	Q9UHM6	OPN4_HUMAN		6	1004	+			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	1	1	hg19	c.837C>T	CCDS7376.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	1	0	1		2	2	2	0		0	0	57		57	53	1	2.060000	-19.999990	1	0.170000	NM_033282			50	50		269	263	1		1			0	0	57	0		1	0	0	0	0	0	0	50	269
LDB3	11155	broad.mit.edu	37	10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000361373.4	+	6	907	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607																																						ENST00000361373.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(886-888)Cga>Tga		LIM domain binding 3							134.0	114.0	121.0					10																	88452318		2203	4300	6503	SO:0001587	stop_gained	11155	0	0					g.chr10:88452318C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.886C>T	chr10.hg19:g.88452318C>T	ENSP00000355296:p.Arg296*	0					LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*	p.R296*	NM_007078.2	NP_009009.1	1	2	3	2.008551				6	907	+				Nonsense_Mutation	SNP	ENST00000361373.4	0	1	hg19	c.886C>T	CCDS7377.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.985369	0.97173	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	.	.	.	5.92	2.8	0.32819	5.92	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8726	0.63629	0.6723:0.3277:0.0:0.0	.	.	.	.	X	296;364;249;249;249;364;296;296	.	ENSP00000263066:R249X	R	+	1	2	2	LDB3	88442298	88442298	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	2.550000	0.45811	0.828000	0.34709	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				83	81		398	391	1		1	0		0	0	103	0		1	0	0	0	0	1	0	83	398
BMPR1A	657	broad.mit.edu	37	10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	113					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Juvenile polyposis	yes	Rec		Juvenile polyposis	10	10q22.3	10q22.3	657	Mis, N, F	"""bone morphogenetic protein receptor, type IA"""				E	E		gastrointestinal polyps			0				24						c.(337-339)tCt>tAt		bone morphogenetic protein receptor, type IA							63.0	65.0	64.0					10																	88659555		2203	4300	6503	SO:0001583	missense	657	0	0		Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	g.chr10:88659555C>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.338C>A	chr10.hg19:g.88659555C>A	ENSP00000361107:p.Ser113Tyr	0						p.S113Y	NM_004329.2	NP_004320.2	1	2	3	2.008551	P36894	BMR1A_HUMAN		6	875	+			A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	1	1	hg19	c.338C>A	CCDS7378.1	1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739875	0.69304	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.90444	-2.67	5.2	5.2	0.72013	5.2	5.2	0.72013	TGF-beta receptor/activin receptor, type I/II (1);	0.060693	0.64402	D	0.000002	D	0.93562	0.7945	M	0.62266	1.93	0.80722	D	1	D	0.55385	0.971	P	0.62491	0.903	D	0.92920	0.6354	10	0.42905	T	0.14	.	16.0145	0.80427	0.0:1.0:0.0:0.0	.	113	P36894	BMR1A_HUMAN	Y	113	ENSP00000361107:S113Y	ENSP00000224764:S113Y	S	+	2	0	0	BMPR1A	88649535	88649535	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.954000	0.76001	2.585000	0.87301	0.563000	0.77884	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004329			56	52		232	231	0		1	1		0	0	57	0		1	9.999077e-01	0	10	0	50	0	56	232
MMRN2	79812	broad.mit.edu	37	10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	859	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562																																						ENST00000372027.5	1.000000	0.370000	8.600000e-01	4.900000e-01	0.640000	0.670626	0.640000	0.600000																										0				19						c.(2575-2577)cAt>cGt		multimerin 2							111.0	94.0	100.0					10																	88696774		2203	4300	6503	SO:0001583	missense	79812	0	0					g.chr10:88696774T>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2576A>G	chr10.hg19:g.88696774T>C	ENSP00000361097:p.His859Arg	0						p.H859R	NM_024756.2	NP_079032.2	1	2	3	2.008551	Q9H8L6	MMRN2_HUMAN		7	2897	-			Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	1	1	hg19	c.2576A>G	CCDS7379.1	0	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368757	0.61624	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.74737	-0.87	4.9	4.9	0.64082	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.369029	0.25750	N	0.028548	D	0.85418	0.5692	M	0.80028	2.48	0.36349	D	0.859949	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.968	D	0.89244	0.3586	10	0.51188	T	0.08	-9.9338	13.1707	0.59595	0.0:0.0:0.0:1.0	.	637;859	E7EN39;Q9H8L6	.;MMRN2_HUMAN	R	859;637	ENSP00000361097:H859R	ENSP00000361097:H859R	H	-	2	0	0	MMRN2	88686754	88686754	0.988000	0.35896	0.195000	0.23364	0.970000	0.65996	2.644000	0.46613	1.858000	0.53909	0.456000	0.33151	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-18.964820	1	0.170000	NM_024756			16	16		291	282	0		1	0		0	0	62	0		9.999226e-01	9.080087e-01	0	0	0	78	0	16	291
MMRN2	79812	broad.mit.edu	37	10	88702615	88702615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.5	-	6	2247	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	642					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741																																						ENST00000372027.5	1.000000	0.440000	1	7.300000e-01	0.990000	0.904810	0.990000	1.000000																										0				19						c.(1924-1926)caG>caT		multimerin 2							11.0	11.0	11.0					10																	88702615		2165	4266	6431	SO:0001583	missense	79812	0	0					g.chr10:88702615C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1926G>T	chr10.hg19:g.88702615C>A	ENSP00000361097:p.Gln642His	0					MMRN2_ENST00000488950.1_5'Flank	p.Q642H	NM_024756.2	NP_079032.2	1	2	3	2.008551	Q9H8L6	MMRN2_HUMAN		6	2247	-			Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	0	1	hg19	c.1926G>T	CCDS7379.1	1	.	.	.	.	.	.	.	.	.	.	C	6.797	0.516103	0.12944	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15487	2.42	5.24	1.94	0.25998	5.24	1.94	0.25998	.	1.250660	0.05698	N	0.593613	T	0.19967	0.0480	L	0.51422	1.61	0.09310	N	0.999997	D;P;P	0.57899	0.981;0.855;0.855	P;B;B	0.45195	0.473;0.359;0.258	T	0.22034	-1.0228	10	0.49607	T	0.09	-6.1725	6.6801	0.23115	0.2805:0.5612:0.0:0.1583	.	420;581;642	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	H	642;420	ENSP00000361097:Q642H	ENSP00000361097:Q642H	Q	-	3	2	2	MMRN2	88692595	88692595	0.000000	0.05858	0.330000	0.25442	0.023000	0.10783	0.287000	0.18920	0.572000	0.29383	-0.391000	0.06502	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-10.991290	1	0.170000	NM_024756			5	5		50	49	0		1			0	0	12	0		9.376147e-01	0	0	0	0	0	0	5	50
MMRN2	79812	broad.mit.edu	37	10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	342					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647																																						ENST00000372027.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1024-1026)Aag>Cag		multimerin 2							56.0	59.0	58.0					10																	88703517		2203	4300	6503	SO:0001583	missense	79812	0	0					g.chr10:88703517T>G	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1024A>C	chr10.hg19:g.88703517T>G	ENSP00000361097:p.Lys342Gln	0					MMRN2_ENST00000488950.1_5'Flank	p.K342Q	NM_024756.2	NP_079032.2	1	2	3	2.008551	Q9H8L6	MMRN2_HUMAN		6	1345	-			Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	1	1	hg19	c.1024A>C	CCDS7379.1	1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947118	0.53186	.	.	ENSG00000173269	ENST00000372027	T	0.70164	-0.46	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.221156	0.34603	N	0.003839	T	0.76521	0.3999	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.66084	0.941;0.941	T	0.67397	-0.5681	10	0.28530	T	0.3	-38.1567	10.4972	0.44785	0.0:0.0:0.1627:0.8372	.	281;342	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	Q	342	ENSP00000361097:K342Q	ENSP00000361097:K342Q	K	-	1	0	0	MMRN2	88693497	88693497	.	.	0.133000	0.22050	0.927000	0.56198	.	.	1.859000	0.53934	0.379000	0.24179	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	1	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_024756			57	55		246	241	1		1	0		0	0	56	0		1	9.990850e-01	0	1	0	47	0	57	246
AGAP11	119385	broad.mit.edu	37	10	88768262	88768262	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	ENST00000444431.1	+	0	2862				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_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)										CATTTGCAAGCAGTCCATGGG	0.547																																						ENST00000444431.1	1.000000	0.940000	1	9.900000e-01	0.990000	0.996679	0.990000	1.000000																										0												ankyrin repeat and GTPase domain Arf GTPase activating protein 11							145.0	157.0	153.0					10																	88768262		2181	4295	6476			119385	0	0					g.chr10:88768262C>T			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		chr10.hg19:g.88768262C>T		0					RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA				1	2	3	2.008551	Q8TF27	AGA11_HUMAN		0	2862	+			B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	0	0	1		2	2	2	0		0	0	204		204	200	1	2.060000	-20.000000	1	0.170000	NM_133447			102	96		957	942	0		1	0		0	0	204	0		1	0	0	0	0	1	0	102	957
AGAP11	119385	broad.mit.edu	37	10	88769136	88769136	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	ENST00000444431.1	+	0	3736				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_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)										CTTGGCACCCGCCTTTCCCGT	0.522																																						ENST00000444431.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0												ankyrin repeat and GTPase domain Arf GTPase activating protein 11							170.0	190.0	183.0					10																	88769136		2203	4300	6503			119385	15	121410	45				g.chr10:88769136G>A			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		chr10.hg19:g.88769136G>A		0					RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA				1	2	3	2.008551	Q8TF27	AGA11_HUMAN		0	3736	+			B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	0	0	1		2	2	2	0		0	0	285		285	316	1	2.060000	-20.000000	1	0.170000	NM_133447			270	250		1182	1061	0		1	1		0	0	285	0		1	9.146188e-02	0	2	0	1	0	270	1182
FAM35A	54537	broad.mit.edu	37	10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298784.1	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298786.4_Missense_Mutation_p.V612A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298784.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1834-1836)gTa>gCa		family with sequence similarity 35, member A							54.0	53.0	53.0					10																	88930603		2203	4298	6501	SO:0001583	missense	54537	0	0					g.chr10:88930603T>C	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.1835T>C	chr10.hg19:g.88930603T>C	ENSP00000298784:p.Val612Ala	0					FAM35A_ENST00000298786.4_Missense_Mutation_p.V612A	p.V612A	NM_019054.2	NP_061927.2	1	2	3	2.008551	Q86V20	FA35A_HUMAN		6	1949	+			O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	1	1	hg19	c.1835T>C	CCDS7383.1	1	.	.	.	.	.	.	.	.	.	.	t	6.964	0.547799	0.13312	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.63580	-0.05;-0.05;-0.05	4.05	1.68	0.24146	4.05	1.68	0.24146	.	0.921660	0.09014	N	0.861050	T	0.49423	0.1556	L	0.34521	1.04	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.41770	-0.9490	10	0.48119	T	0.1	0.1994	6.7529	0.23497	0.0:0.2922:0.0:0.7078	.	612	Q86V20	FA35A_HUMAN	A	612	ENSP00000298786:V612A;ENSP00000298784:V612A;ENSP00000351064:V612A	ENSP00000298784:V612A	V	+	2	0	0	FAM35A	88920583	88920583	0.007000	0.16637	0.026000	0.17262	0.969000	0.65631	0.482000	0.22276	0.235000	0.21160	0.491000	0.48974	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	0	0	0		2	2	2	0		0	0	57		57	87	1	2.060000	-20.000000	1	0.170000	NM_019054			64	63		279	259	1		1	1		0	0	57	0		1	9.999947e-01	0	27	0	53	0	64	279
FAM35A	54537	broad.mit.edu	37	10	88940025	88940025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	ENST00000298784.1	+	7	2271	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	FAM35A_ENST00000298786.4_Silent_p.S788S	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	719										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATGTTTTAGCTGCTTGCCAT	0.323																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298784.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2155-2157)agC>agT		family with sequence similarity 35, member A							21.0	25.0	24.0					10																	88940025		2187	4275	6462	SO:0001819	synonymous_variant	54537	0	0					g.chr10:88940025C>T	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.2157C>T	chr10.hg19:g.88940025C>T		0					FAM35A_ENST00000298786.4_Silent_p.S788S	p.S719S	NM_019054.2	NP_061927.2	1	2	3	2.008551	Q86V20	FA35A_HUMAN		7	2271	+			O95885|Q9H991	Silent	SNP	ENST00000298784.1	1	1	hg19	c.2157C>T	CCDS7383.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	1	0	1		2	2	2	0		0	0	76		76	82	1	2.060000	-20.000000	1	0.170000	NM_019054			51	48		236	226	0		1	1		0	0	76	0		1	9.999110e-01	0	18	0	49	0	51	236
FAM35A	54537	broad.mit.edu	37	10	88946903	88946903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298784.1	+	8	2368	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	FAM35A_ENST00000298786.4_Silent_p.L821L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298784.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				16						c.(2254-2256)Ctg>Ttg		family with sequence similarity 35, member A							155.0	130.0	138.0					10																	88946903		2203	4300	6503	SO:0001819	synonymous_variant	54537	0	0					g.chr10:88946903C>T	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.2254C>T	chr10.hg19:g.88946903C>T		0					FAM35A_ENST00000298786.4_Silent_p.L821L	p.L752L	NM_019054.2	NP_061927.2	1	2	3	2.008551	Q86V20	FA35A_HUMAN		8	2368	+			O95885|Q9H991	Silent	SNP	ENST00000298784.1	1	1	hg19	c.2254C>T	CCDS7383.1	1	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795558	0.16327	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	-0.513	0.11962	3.13	-0.513	0.11962	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.36929	D	0.891807	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-4.7816	4.7335	0.12977	0.4:0.4123:0.0:0.1877	.	.	.	.	V	475	.	.	A	+	2	0	0	FAM35A	88936883	88936883	0.229000	0.23729	0.362000	0.25862	0.629000	0.37895	-0.559000	0.05971	0.136000	0.18733	0.194000	0.17425	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-19.998300	1	0.170000	NM_019054			46	43		258	250	1		1	1		0	0	71	0		1	9.999964e-01	0	29	0	79	0	46	258
PAPSS2	9060	broad.mit.edu	37	10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	116					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)			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)		TGCTGGTCTGGTCTGCATTAC	0.448																																						ENST00000361175.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(346-348)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							98.0	91.0	93.0					10																	89473032		2203	4300	6503	SO:0001583	missense	9060	0	0					g.chr10:89473032G>A	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.346G>A	chr10.hg19:g.89473032G>A	ENSP00000354436:p.Val116Ile	0					PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I|PAPSS2_ENST00000482258.1_3'UTR	p.V116I	NM_004670.3	NP_004661.2	1	2	3	2.008551	O95340	PAPS2_HUMAN		3	715	+		Melanoma(5;0.019)|Colorectal(252;0.123)	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	1	1	hg19	c.346G>A	CCDS7385.1	1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341184	0.24339	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.74842	-0.88;-0.88;-0.88	5.78	1.9	0.25705	5.78	1.9	0.25705	Adenylylsulphate kinase, C-terminal (3);	0.167857	0.52532	N	0.000075	T	0.47820	0.1466	N	0.04959	-0.14	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.002	T	0.23226	-1.0194	10	0.08599	T	0.76	-13.2731	10.4387	0.44452	0.2627:0.0:0.7373:0.0	.	116;116	O95340;O95340-2	PAPS2_HUMAN;.	I	116;116;120;115	ENSP00000354436:V116I;ENSP00000406157:V116I;ENSP00000397123:V120I	ENSP00000354436:V116I	V	+	1	0	0	PAPSS2	89463012	89463012	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	3.235000	0.51328	0.097000	0.17492	0.591000	0.81541	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				72	67		334	327	1		1	1		0	0	67	0		1	1	0	12	0	117	0	72	334
PAPSS2	9060	broad.mit.edu	37	10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	312					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)			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)		CGGCTGGAAGGGTGCAGCAAG	0.512																																						ENST00000361175.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(934-936)gGg>gAg		3'-phosphoadenosine 5'-phosphosulfate synthase 2							138.0	109.0	119.0					10																	89487110		2203	4300	6503	SO:0001583	missense	9060	0	0					g.chr10:89487110G>A	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.935G>A	chr10.hg19:g.89487110G>A	ENSP00000354436:p.Gly312Glu	0					PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E	p.G312E	NM_004670.3	NP_004661.2	1	2	3	2.008551	O95340	PAPS2_HUMAN		8	1304	+		Melanoma(5;0.019)|Colorectal(252;0.123)	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	1	1	hg19	c.935G>A	CCDS7385.1	1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018327	0.35606	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.19394	2.15;2.15;2.15	5.74	4.74	0.60224	5.74	4.74	0.60224	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.136189	0.64402	N	0.000002	T	0.16128	0.0388	L	0.39020	1.185	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.21151	0.033;0.003	T	0.06826	-1.0805	10	0.16420	T	0.52	-21.1853	10.3775	0.44090	0.1616:0.0:0.8384:0.0	.	312;317	O95340;O95340-2	PAPS2_HUMAN;.	E	312;317;316;316	ENSP00000354436:G312E;ENSP00000406157:G317E;ENSP00000397123:G316E	ENSP00000354436:G312E	G	+	2	0	0	PAPSS2	89477090	89477090	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.538000	0.60650	1.259000	0.44117	0.561000	0.74099	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.023700	1	0.170000				53	53		254	248	1		1	1		0	0	71	0		1	1	0	7	0	140	0	53	254
RNLS	55328	broad.mit.edu	37	10	90122337	90122337	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000331772.4	-	5	694	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000371947.3_Silent_p.V224V|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.V141V	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433																																						ENST00000331772.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(670-672)gtC>gtA		renalase, FAD-dependent amine oxidase							161.0	153.0	156.0					10																	90122337		2203	4300	6503	SO:0001819	synonymous_variant	55328	0	0					g.chr10:90122337G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.672C>A	chr10.hg19:g.90122337G>T		0					RNLS_ENST00000371947.3_Silent_p.V224V|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.V141V	p.V224V	NM_001031709.2	NP_001026879.2	1	2	3	2.008551	Q5VYX0	RNLS_HUMAN		5	694	-			Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	1	1	hg19	c.672C>A	CCDS31239.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_018363			59	58		324	318	1		1	1		0	0	76	0		1	9.313522e-01	0	6	0	21	0	59	324
LIPJ	142910	broad.mit.edu	37	10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	212					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			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)		TTCATTGGTTCAAAGCTGTGT	0.308																																						ENST00000371939.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(634-636)tCa>tTa		lipase, family member J							74.0	87.0	82.0					10																	90356605		2203	4294	6497	SO:0001583	missense	142910	0	0					g.chr10:90356605C>T	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.635C>T	chr10.hg19:g.90356605C>T	ENSP00000361007:p.Ser212Leu	0						p.S212L	NM_001010939.2	NP_001010939.2	1	2	3	2.008551	Q5W064	LIPJ_HUMAN		8	949	+		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)	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	1	1	hg19	c.635C>T	CCDS31240.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895376	0.33442	.	.	ENSG00000204022	ENST00000371939	T	0.64991	-0.13	4.12	3.21	0.36854	4.12	3.21	0.36854	Alpha/beta hydrolase fold-1 (1);	1.015460	0.07928	N	0.977014	T	0.50922	0.1644	L	0.31157	0.91	0.09310	N	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.36383	-0.9750	10	0.27785	T	0.31	-32.74	11.1249	0.48312	0.0:0.9061:0.0:0.0939	.	212	Q5W064	LIPJ_HUMAN	L	212	ENSP00000361007:S212L	ENSP00000361007:S212L	S	+	2	0	0	LIPJ	90346585	90346585	0.002000	0.14202	0.044000	0.18714	0.241000	0.25554	1.670000	0.37502	1.092000	0.41356	0.585000	0.79938	TCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	1	0	1		2	2	2	0		0	0	125		125	123	1	2.060000	-3.389021	1	0.170000	XM_084377			106	104		448	441	1		1			0	0	125	0		1	0	0	0	0	0	0	106	448
LIPF	8513	broad.mit.edu	37	10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000238983.4	+	5	492	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LIPF_ENST00000608620.1_Missense_Mutation_p.D116G|LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000394375.3_Missense_Mutation_p.D159G	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	149					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)			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)	GCTAAATATGACCTTCCAGCC	0.378																																						ENST00000238983.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(445-447)gAc>gGc		lipase, gastric	Orlistat(DB01083)						167.0	157.0	160.0					10																	90429617		2203	4300	6503	SO:0001583	missense	8513	0	0					g.chr10:90429617A>G	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.446A>G	chr10.hg19:g.90429617A>G	ENSP00000238983:p.Asp149Gly	0					LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000608620.1_Missense_Mutation_p.D116G|LIPF_ENST00000394375.3_Missense_Mutation_p.D159G	p.D149G	NM_004190.3	NP_004181.1	1	2	3	2.008551	P07098	LIPG_HUMAN		5	492	+		Colorectal(252;0.0161)	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	1	1	hg19	c.446A>G	CCDS7389.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395450	0.83011	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.79940	-1.32;-1.32;-1.32	5.07	5.07	0.68467	5.07	5.07	0.68467	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000015	D	0.94627	0.8268	H	0.99794	4.785	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.998;0.997;0.999	D	0.96729	0.9538	10	0.87932	D	0	-31.7369	13.9526	0.64129	1.0:0.0:0.0:0.0	.	116;159;126;149	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	G	159;149;116	ENSP00000377900:D159G;ENSP00000238983:D149G;ENSP00000348101:D116G	ENSP00000238983:D149G	D	+	2	0	0	LIPF	90419597	90419597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.110000	0.64415	0.528000	0.53228	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	0	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-3.176362	1	0.170000				119	115		519	512	1		1			0	0	150	0		1	0	0	0	0	0	0	119	519
LIPF	8513	broad.mit.edu	37	10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000238983.4	+	7	755	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	LIPF_ENST00000608620.1_Missense_Mutation_p.F204V|LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000394375.3_Missense_Mutation_p.F247V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	237					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)			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)	ACACAACTTCTTTGATCAATT	0.368																																						ENST00000238983.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(709-711)Ttt>Gtt		lipase, gastric	Orlistat(DB01083)						179.0	182.0	181.0					10																	90433384		2203	4300	6503	SO:0001583	missense	8513	0	0					g.chr10:90433384T>G	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.709T>G	chr10.hg19:g.90433384T>G	ENSP00000238983:p.Phe237Val	0					LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000608620.1_Missense_Mutation_p.F204V|LIPF_ENST00000394375.3_Missense_Mutation_p.F247V	p.F237V	NM_004190.3	NP_004181.1	1	2	3	2.008551	P07098	LIPG_HUMAN		7	755	+		Colorectal(252;0.0161)	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	1	1	hg19	c.709T>G	CCDS7389.1	1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913032	0.72983	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.58652	0.32;0.32;0.32	5.17	2.71	0.32032	5.17	2.71	0.32032	Alpha/beta hydrolase fold-1 (1);	0.635334	0.14697	N	0.303773	T	0.52869	0.1761	L	0.41824	1.3	0.09310	N	1	B;B;B;P	0.34412	0.018;0.398;0.036;0.453	B;P;B;P	0.46758	0.098;0.495;0.098;0.526	T	0.45220	-0.9276	10	0.31617	T	0.26	-4.4579	4.1726	0.10336	0.1504:0.1639:0.0:0.6857	.	204;247;214;237	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	247;237;204	ENSP00000377900:F247V;ENSP00000238983:F237V;ENSP00000348101:F204V	ENSP00000238983:F237V	F	+	1	0	0	LIPF	90423364	90423364	0.027000	0.19231	0.067000	0.19924	0.952000	0.60782	0.731000	0.26058	0.975000	0.38392	0.533000	0.62120	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-20.000000	1	0.170000				145	142		687	682	1		1			0	0	139	0		1	0	0	0	0	0	0	145	687
LIPF	8513	broad.mit.edu	37	10	90438204	90438204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000238983.4	+	10	1009	c.963C>T	c.(961-963)tcC>tcT	p.S321S	LIPF_ENST00000608620.1_Silent_p.S288S|LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000394375.3_Silent_p.S331S	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	321					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)			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)	TTTTCTAGTCCCAACCTCCCT	0.443																																						ENST00000238983.4	1.000000	0.360000	6.200000e-01	4.200000e-01	0.500000	0.547578	0.500000	0.500000																										0				13						c.(961-963)tcC>tcT		lipase, gastric	Orlistat(DB01083)						183.0	168.0	173.0					10																	90438204		2203	4300	6503	SO:0001819	synonymous_variant	8513	0	0					g.chr10:90438204C>T	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.963C>T	chr10.hg19:g.90438204C>T		0					LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000608620.1_Silent_p.S288S|LIPF_ENST00000394375.3_Silent_p.S331S	p.S321S	NM_004190.3	NP_004181.1	1	2	3	2.008551	P07098	LIPG_HUMAN		10	1009	+		Colorectal(252;0.0161)	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	1	1	hg19	c.963C>T	CCDS7389.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-2.900743	1	0.170000				39	39		889	873	0		1			0	0	143	0		1	0	0	0	0	0	0	39	889
ANKRD22	118932	broad.mit.edu	37	10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	158										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GGGGTCTGCACGGGCTTCCAA	0.463																																						ENST00000371930.4	1.000000	0.360000	7.500000e-01	4.600000e-01	0.580000	0.615490	0.580000	0.560000																										0				10						c.(472-474)cGt>cAt		ankyrin repeat domain 22							110.0	111.0	111.0					10																	90583062		2203	4300	6503	SO:0001583	missense	118932	1	121412	33				g.chr10:90583062C>T	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.473G>A	chr10.hg19:g.90583062C>T	ENSP00000360998:p.Arg158His	0					ANKRD22_ENST00000476963.1_5'UTR	p.R158H	NM_144590.2	NP_653191.2	1	2	3	2.008551	Q5VYY1	ANR22_HUMAN		5	683	-		Colorectal(252;0.0163)	B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	1	1	hg19	c.473G>A	CCDS7390.1	0	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095487	0.20471	.	.	ENSG00000152766	ENST00000371930	T	0.53206	0.63	5.57	-3.61	0.04556	5.57	-3.61	0.04556	Ankyrin repeat-containing domain (4);	0.758317	0.13380	N	0.392249	T	0.28665	0.0710	N	0.17594	0.5	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.49607	T	0.09	-0.0029	12.4555	0.55702	0.0:0.4531:0.0:0.5469	.	158	Q5VYY1	ANR22_HUMAN	H	158	ENSP00000360998:R158H	ENSP00000360998:R158H	R	-	2	0	0	ANKRD22	90573042	90573042	0.226000	0.23696	0.327000	0.25402	0.421000	0.31385	-0.047000	0.11963	-0.922000	0.03789	-1.044000	0.02363	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-4.414194	1	0.170000	NM_144590			21	20		421	413	0		1	1		0	0	79	0		9.999971e-01	9.757604e-01	0	3	0	120	0	21	421
STAMBPL1	57559	broad.mit.edu	37	10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371926.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	237						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			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)		TGATGCAACCAATTATGCTAG	0.453																																						ENST00000371926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(709-711)Aat>Gat		STAM binding protein-like 1							93.0	88.0	90.0					10																	90673146		2203	4300	6503	SO:0001583	missense	57559	1	121406	28				g.chr10:90673146A>G	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.709A>G	chr10.hg19:g.90673146A>G	ENSP00000360994:p.Asn237Asp	0					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.N237D	p.N237D	NM_020799.3	NP_065850.1	1	2	3	2.008551	Q96FJ0	STALP_HUMAN		6	1667	+		Colorectal(252;0.0381)	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	1	1	hg19	c.709A>G	CCDS7391.1	1	.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759925	0.03019	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22743	1.96;1.94;1.96;1.95	5.43	4.27	0.50696	5.43	4.27	0.50696	.	0.906390	0.09756	N	0.759943	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.29701	-1.0003	10	0.12103	T	0.63	-1.1119	7.3428	0.26646	0.8548:0.0:0.1452:0.0	.	237;237	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	D	237;237;237;71	ENSP00000360994:N237D;ENSP00000360995:N237D;ENSP00000360992:N237D;ENSP00000360990:N71D	ENSP00000360990:N71D	N	+	1	0	0	STAMBPL1	90663126	90663126	0.000000	0.05858	0.166000	0.22797	0.183000	0.23260	0.537000	0.23144	2.189000	0.69895	0.528000	0.53228	AAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_020799			118	117		450	440	1		1	1		0	0	83	0		1	9.994117e-01	0	7	0	37	0	118	450
ACTA2	59	broad.mit.edu	37	10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000437930.4_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	261					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)			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)		GAACAGGGTCTCTGGGCAGCG	0.532																																						ENST00000458208.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(781-783)gAg>gTg		actin, alpha 2, smooth muscle, aorta							127.0	115.0	119.0					10																	90699290		2203	4300	6503	SO:0001583	missense	59	0	0					g.chr10:90699290T>A	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.782A>T	chr10.hg19:g.90699290T>A	ENSP00000402373:p.Glu261Val	0					ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	p.E261V	NM_001141945.1	NP_001135417.1	1	2	3	2.008551	P62736	ACTA_HUMAN		7	1256	-		Colorectal(252;0.0161)	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	1	1	hg19	c.782A>T	CCDS7392.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990665	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.98135	-4.74;-4.74	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97028	0.9748	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	261	P62736	ACTA_HUMAN	V	261;261;216	ENSP00000224784:E261V;ENSP00000402373:E261V	ENSP00000224784:E261V	E	-	2	0	0	ACTA2	90689270	90689270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.330000	0.79161	0.533000	0.62120	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	1	0	1		2	2	2	0		0	0	125		125	123	1	2.060000	-20.000000	1	0.170000	NM_001613			83	81		422	418	1		1	1		0	0	125	0		1	1	0	3	0	3807	0	83	422
ACTA2	59	broad.mit.edu	37	10	90707143	90707143	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Splice_Site_p.G44W	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	44					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)			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)		ACCATCACCCCCTAAAAAGGT	0.453																																						ENST00000458208.1	1.000000	0.140000	4.000000e-01	2.000000e-01	0.280000	0.343570	0.280000	0.270000																										0				17						c.(130-132)Ggg>Tgg		actin, alpha 2, smooth muscle, aorta							210.0	182.0	192.0					10																	90707143		2203	4300	6503	SO:0001630	splice_region_variant	59	0	0					g.chr10:90707143C>A	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.130-1G>T	chr10.hg19:g.90707143C>A		0					ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Splice_Site_p.G44W|STAMBPL1_ENST00000371927.3_Intron	p.G44W	NM_001141945.1	NP_001135417.1	1	2	3	2.008551	P62736	ACTA_HUMAN		3	604	-		Colorectal(252;0.0161)	B2R8A4|P03996|P04108|Q6FI19	Splice_Site	SNP	ENST00000458208.1	0	1	hg19	c.130G>T	CCDS7392.1	0	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671495	0.67814	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.129922	0.50627	D	0.000114	D	0.97278	0.9110	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.984	D	0.98512	1.0619	10	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	44;44	B7Z6I1;P62736	.;ACTA_HUMAN	W	44	ENSP00000224784:G44W;ENSP00000402373:G44W;ENSP00000396730:G44W;ENSP00000398239:G44W	ENSP00000224784:G44W	G	-	1	0	0	ACTA2	90697123	90697123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	0	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-2.446525	0	0.170000	NM_001613	Missense_Mutation		12	12		521	509	0		1	0		0	0	105	0		9.990022e-01	1	0	0	0	3482	0	12	521
LIPA	3988	broad.mit.edu	37	10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	14					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGGGTCCAGAGAACCAAACAG	0.378																																						ENST00000336233.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				6						c.(40-42)Ctc>Atc		lipase A, lysosomal acid, cholesterol esterase							109.0	107.0	108.0					10																	91007366		2203	4300	6503	SO:0001583	missense	3988	0	0					g.chr10:91007366G>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.40C>A	chr10.hg19:g.91007366G>T	ENSP00000337354:p.Leu14Ile	0					LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron	p.L14I			1	2	3	2.008551	P38571	LICH_HUMAN		2	362	-		Colorectal(252;0.0162)	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	1	1	hg19	c.40C>A	CCDS7401.1	1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802607	0.16397	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77098	-0.46;-0.46;-0.34;-1.07	4.93	3.04	0.35103	4.93	3.04	0.35103	.	.	.	.	.	T	0.56093	0.1962	N	0.08118	0	0.20703	N	0.999861	B	0.11235	0.004	B	0.15484	0.013	T	0.41124	-0.9526	9	0.21540	T	0.41	-4.6998	8.0945	0.30820	0.0:0.1734:0.6466:0.18	.	14	P38571	LICH_HUMAN	I	14	ENSP00000337354:L14I;ENSP00000413019:L14I;ENSP00000388415:L14I;ENSP00000282673:L14I	ENSP00000282673:L14I	L	-	1	0	0	LIPA	90997346	90997346	0.932000	0.31603	0.980000	0.43619	0.314000	0.28054	1.957000	0.40392	0.777000	0.33496	0.555000	0.69702	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	0	0	1		16	39	2	1		1	1	45		45	45	1	2.060000	-3.249846	1	0.170000	NM_000235			34	33		182	176	1		1	1		1	0	45	0		9.970014e-01	9.999958e-01	0	52	0	618	0	34	182
IFIT3	3437	broad.mit.edu	37	10	91098602	91098602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098602G>T	ENST00000371818.4	+	2	370	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	64					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)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AAAACACCTAGATGGTAACAA	0.418																																						ENST00000371818.4	1.000000	0.190000	5.000000e-01	2.600000e-01	0.360000	0.415178	0.360000	0.340000																										0				15						c.(190-192)Gat>Tat		interferon-induced protein with tetratricopeptide repeats 3							102.0	100.0	101.0					10																	91098602		2203	4300	6503	SO:0001583	missense	3437	0	0					g.chr10:91098602G>T	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.190G>T	chr10.hg19:g.91098602G>T	ENSP00000360883:p.Asp64Tyr	0					IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.D64Y	NM_001549.4	NP_001540.2	1	2	3	2.008551	O14879	IFIT3_HUMAN		2	370	+			Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	0	1	hg19	c.190G>T	CCDS7402.1	0	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492880	0.12702	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	D;D	0.94046	-3.34;-3.34	4.58	-9.16	0.00694	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);	1.696370	0.02698	N	0.111449	D	0.92153	0.7512	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	D	0.90690	0.4612	10	0.72032	D	0.01	1.3031	10.1446	0.42755	0.4859:0.3721:0.142:0.0	.	64	O14879	IFIT3_HUMAN	Y	64	ENSP00000360883:D64Y;ENSP00000360876:D64Y	ENSP00000360876:D64Y	D	+	1	0	0	IFIT3	91088582	91088582	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.606000	0.05654	-3.526000	0.00147	-0.300000	0.09419	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	0	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.456160	1	0.170000	NM_001549			13	11		437	432	0		1	1		0	0	94	0		9.994973e-01	9.999702e-01	0	41	0	613	0	13	437
IFIT3	3437	broad.mit.edu	37	10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	125					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)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428																																						ENST00000371818.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(373-375)aAg>aTg		interferon-induced protein with tetratricopeptide repeats 3							59.0	65.0	63.0					10																	91098786		2203	4300	6503	SO:0001583	missense	3437	0	0					g.chr10:91098786A>T	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.374A>T	chr10.hg19:g.91098786A>T	ENSP00000360883:p.Lys125Met	0					IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.K125M	NM_001549.4	NP_001540.2	1	2	3	2.008551	O14879	IFIT3_HUMAN		2	554	+			Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	1	1	hg19	c.374A>T	CCDS7402.1	1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379661	0.42207	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76316	-1.01;-1.01	4.71	2.32	0.28847	4.71	2.32	0.28847	Tetratricopeptide-like helical (1);	0.814160	0.11368	N	0.571235	T	0.78792	0.4339	L	0.50333	1.59	0.31164	N	0.703982	P	0.41848	0.763	P	0.51974	0.686	T	0.74691	-0.3580	10	0.59425	D	0.04	-0.1749	6.3659	0.21455	0.7797:0.0:0.0794:0.1409	.	125	O14879	IFIT3_HUMAN	M	125	ENSP00000360883:K125M;ENSP00000360876:K125M	ENSP00000360876:K125M	K	+	2	0	0	IFIT3	91088766	91088766	0.864000	0.29904	0.540000	0.28089	0.336000	0.28762	1.583000	0.36579	0.509000	0.28195	0.528000	0.53228	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	0	0	1		18	24	2	1		1	1	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_001549			74	72		301	295	1		1	1		1	0	68	0		1	1	0	132	0	395	0	74	301
IFIT1	3434	broad.mit.edu	37	10	91162578	91162578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000371804.3	+	2	713	c.546G>A	c.(544-546)gcG>gcA	p.A182A	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Silent_p.A151A	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					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)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478																																						ENST00000371804.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(544-546)gcG>gcA		interferon-induced protein with tetratricopeptide repeats 1							131.0	134.0	133.0					10																	91162578		2203	4300	6503	SO:0001819	synonymous_variant	3434	2	121412	40				g.chr10:91162578G>A	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.546G>A	chr10.hg19:g.91162578G>A		0					IFIT1_ENST00000546318.1_Silent_p.A151A|LIPA_ENST00000371837.1_Intron	p.A182A	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	1	2	3	2.008551	P09914	IFIT1_HUMAN		2	713	+			B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	1	1	hg19	c.546G>A	CCDS31243.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	1	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-20.000000	1	0.170000	NM_001548			203	201		879	868	1		1	1		0	0	184	0		1	1	0	140	0	414	0	203	879
IFIT1	3434	broad.mit.edu	37	10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000371804.3	+	2	1018	c.851C>T	c.(850-852)tCt>tTt	p.S284F	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	284					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)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443																																						ENST00000371804.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(850-852)tCt>tTt		interferon-induced protein with tetratricopeptide repeats 1							71.0	73.0	72.0					10																	91162883		2203	4300	6503	SO:0001583	missense	3434	0	0					g.chr10:91162883C>T	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.851C>T	chr10.hg19:g.91162883C>T	ENSP00000360869:p.Ser284Phe	0					IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F|LIPA_ENST00000371837.1_Intron	p.S284F	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	1	2	3	2.008551	P09914	IFIT1_HUMAN		2	1018	+			B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	1	1	hg19	c.851C>T	CCDS31243.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294559	0.60086	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.212698	0.40144	N	0.001177	D	0.87095	0.6092	M	0.89095	3.005	0.45899	D	0.998747	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83615	0.0136	10	0.07482	T	0.82	.	19.01	0.92870	0.0:1.0:0.0:0.0	.	284;284	Q5T7J1;P09914	.;IFIT1_HUMAN	F	284;253	ENSP00000360869:S284F;ENSP00000441968:S253F	ENSP00000360869:S284F	S	+	2	0	0	IFIT1	91152863	91152863	0.915000	0.31059	0.095000	0.20976	0.446000	0.32137	3.195000	0.51013	2.791000	0.96007	0.650000	0.86243	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.231082	1	0.170000	NM_001548			84	83		428	420	1		1	1		0	0	95	0		1	1	0	191	0	497	0	84	428
IFIT5	24138	broad.mit.edu	37	10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	201					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)			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448																																						ENST00000371795.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(601-603)Ctg>Gtg		interferon-induced protein with tetratricopeptide repeats 5							70.0	76.0	74.0					10																	91177557		2203	4300	6503	SO:0001583	missense	24138	0	0					g.chr10:91177557C>G	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.601C>G	chr10.hg19:g.91177557C>G	ENSP00000360860:p.Leu201Val	0					IFIT5_ENST00000416601.1_Intron	p.L201V	NM_012420.2	NP_036552.1	1	2	3	2.008551	Q13325	IFIT5_HUMAN		2	814	+			B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	1	1	hg19	c.601C>G	CCDS7403.1	1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835418	0.50951	.	.	ENSG00000152778	ENST00000371795	T	0.48836	0.8	6.03	4.14	0.48551	6.03	4.14	0.48551	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.274754	0.36101	N	0.002795	T	0.37571	0.1008	L	0.37507	1.11	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.07539	-1.0767	10	0.31617	T	0.26	-4.439	8.7594	0.34665	0.0:0.7657:0.0:0.2343	.	201	Q13325	IFIT5_HUMAN	V	201	ENSP00000360860:L201V	ENSP00000360860:L201V	L	+	1	2	2	IFIT5	91167537	91167537	0.002000	0.14202	0.985000	0.45067	0.992000	0.81027	-0.242000	0.08928	0.832000	0.34804	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.234985	1	0.170000	NM_012420			82	78		334	328	1		1	1		0	0	87	0		1	1	0	33	0	114	0	82	334
SLC16A12	387700	broad.mit.edu	37	10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000341233.4	-	7	1449	c.1059T>G	c.(1057-1059)ttT>ttG	p.F353L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502																																						ENST00000341233.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1057-1059)ttT>ttG		solute carrier family 16, member 12							126.0	99.0	108.0					10																	91195956		2203	4300	6503	SO:0001583	missense	387700	0	0					g.chr10:91195956A>C		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.1059T>G	chr10.hg19:g.91195956A>C	ENSP00000343022:p.Phe353Leu	0					SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	p.F353L	NM_213606.3	NP_998771.3	1	2	3	2.008551	Q6ZSM3	MOT12_HUMAN		7	1449	-			Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	1	1	hg19	c.1059T>G		1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252196	0.80135	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.11495	2.77;2.77	5.91	4.78	0.61160	5.91	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057555	0.64402	D	0.000001	T	0.12987	0.0315	L	0.55017	1.72	0.48395	D	0.999646	P	0.44090	0.826	B	0.42462	0.388	T	0.06110	-1.0845	10	0.28530	T	0.3	.	11.1741	0.48588	0.9288:0.0:0.0712:0.0	.	353	Q6ZSM3	MOT12_HUMAN	L	353;383	ENSP00000343022:F353L;ENSP00000360855:F383L	ENSP00000343022:F353L	F	-	3	2	2	SLC16A12	91185936	91185936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.235000	0.51328	1.062000	0.40625	0.533000	0.62120	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_213606			50	50		189	186	1		1	0		0	0	62	0		1	2.873156e-01	0	0	0	5	0	50	189
SLC16A12	387700	broad.mit.edu	37	10	91203589	91203589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000341233.4	-	4	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SLC16A12_ENST00000371790.4_Silent_p.F76F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368																																						ENST00000341233.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				14						c.(136-138)ttC>ttT		solute carrier family 16, member 12							98.0	89.0	92.0					10																	91203589		2203	4300	6503	SO:0001819	synonymous_variant	387700	0	0					g.chr10:91203589G>A		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.138C>T	chr10.hg19:g.91203589G>A		0					SLC16A12_ENST00000371790.4_Silent_p.F76F	p.F46F	NM_213606.3	NP_998771.3	1	2	3	2.008551	Q6ZSM3	MOT12_HUMAN		4	528	-			Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	1	1	hg19	c.138C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_213606			31	31		154	153	1		1	0		0	0	42	0		1	1.399828e-01	0	0	0	4	0	31	154
KIF20B	9585	broad.mit.edu	37	10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000371728.3	+	4	399	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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						GATGGCACAGAAATTCAGTTT	0.373																																						ENST00000371728.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(334-336)Aaa>Caa		kinesin family member 20B							86.0	85.0	86.0					10																	91469201		2203	4300	6503	SO:0001583	missense	9585	0	0					g.chr10:91469201A>C	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.334A>C	chr10.hg19:g.91469201A>C	ENSP00000360793:p.Lys112Gln	0					KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	p.K112Q	NM_001284259.1	NP_001271188.1	1	2	3	2.008551	Q96Q89	KI20B_HUMAN		4	399	+			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	1	1	hg19	c.334A>C		1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077178	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.26	5.26	0.73747	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000097	T	0.73125	0.3547	N	0.20766	0.605	0.35744	D	0.818899	P;B	0.42941	0.794;0.03	P;B	0.54372	0.75;0.049	T	0.78295	-0.2259	10	0.35671	T	0.21	-16.5905	15.4672	0.75409	1.0:0.0:0.0:0.0	.	112;112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	112	ENSP00000260753:K112Q;ENSP00000411545:K112Q;ENSP00000377830:K112Q;ENSP00000360793:K112Q;ENSP00000390946:K112Q	ENSP00000260753:K112Q	K	+	1	0	0	KIF20B	91459181	91459181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.104000	0.64026	0.533000	0.62120	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_016195			118	116		505	493	1		1	1		0	0	89	0		1	8.060932e-01	0	8	0	7	0	118	505
KIF20B	9585	broad.mit.edu	37	10	91477381	91477381	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000371728.3	+	11	1238	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000416354.1_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000260753.4_Silent_p.Q391Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	391	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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						TGAAGACACAGAATGAAGGTG	0.313																																						ENST00000371728.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1171-1173)caG>caA		kinesin family member 20B							124.0	134.0	131.0					10																	91477381		2203	4300	6503	SO:0001819	synonymous_variant	9585	0	0					g.chr10:91477381G>A	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.1173G>A	chr10.hg19:g.91477381G>A		0					KIF20B_ENST00000416354.1_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000260753.4_Silent_p.Q391Q	p.Q391Q	NM_001284259.1	NP_001271188.1	1	2	3	2.008551	Q96Q89	KI20B_HUMAN		11	1238	+			A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	1	1	hg19	c.1173G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	0		2	2	2	0		0	0	119		119	117	1	2.060000	-20.000000	1	0.170000	NM_016195			102	100		399	394	0		1	1		0	0	119	0		1	9.198267e-01	0	4	0	15	0	102	399
KIF20B	9585	broad.mit.edu	37	10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000371728.3	+	20	3466	c.3401C>A	c.(3400-3402)aCt>aAt	p.T1134N	KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1134					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)			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						AAAAATGTTACTCTTGATGTT	0.343																																						ENST00000371728.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993925	0.990000	1.000000																										0				58						c.(3400-3402)aCt>aAt		kinesin family member 20B							67.0	76.0	73.0					10																	91497999		2202	4297	6499	SO:0001583	missense	9585	0	0					g.chr10:91497999C>A	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.3401C>A	chr10.hg19:g.91497999C>A	ENSP00000360793:p.Thr1134Asn	0					KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N	p.T1134N	NM_001284259.1	NP_001271188.1	1	2	3	2.008551	Q96Q89	KI20B_HUMAN		20	3466	+			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	1	1	hg19	c.3401C>A		1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417123	0.01136	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65916	-0.12;-0.13;-0.18;-0.12	5.87	-1.76	0.08006	5.87	-1.76	0.08006	.	1.060770	0.07276	N	0.869932	T	0.22437	0.0541	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.16420	T	0.52	0.8938	1.5837	0.02639	0.3529:0.2265:0.3063:0.1143	.	1134;1094	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1094;1164;1134;1134	ENSP00000260753:T1094N;ENSP00000411545:T1164N;ENSP00000377830:T1134N;ENSP00000360793:T1134N	ENSP00000260753:T1094N	T	+	2	0	0	KIF20B	91487979	91487979	0.001000	0.12720	0.009000	0.14445	0.003000	0.03518	-0.241000	0.08940	-0.370000	0.08016	-0.940000	0.02684	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	0	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-15.871780	1	0.170000	NM_016195			48	48		428	419	1		1	1		0	0	105	0		1	5.584066e-01	0	2	0	16	0	48	428
KIF20B	9585	broad.mit.edu	37	10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000371728.3	+	21	3904	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1280					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)			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						GATCTTCAGAGGAAGGAAGAA	0.383																																						ENST00000371728.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3838-3840)aGg>aTg		kinesin family member 20B							99.0	101.0	100.0					10																	91498777		2202	4300	6502	SO:0001583	missense	9585	0	0					g.chr10:91498777G>T	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.3839G>T	chr10.hg19:g.91498777G>T	ENSP00000360793:p.Arg1280Met	0					KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M	p.R1280M	NM_001284259.1	NP_001271188.1	1	2	3	2.008551	Q96Q89	KI20B_HUMAN		21	3904	+			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	1	1	hg19	c.3839G>T		1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574020	0.65765	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80123	-1.23;-1.26;-1.34;-1.27	5.23	2.29	0.28610	5.23	2.29	0.28610	.	0.213968	0.32055	N	0.006641	D	0.86285	0.5896	M	0.65498	2.005	0.41534	D	0.988475	D;D	0.89917	0.999;1.0	D;D	0.68943	0.915;0.961	D	0.85586	0.1243	10	0.72032	D	0.01	-4.1044	11.1185	0.48275	0.2074:0.0:0.7926:0.0	.	1280;1240	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1240;1310;1280;1280	ENSP00000260753:R1240M;ENSP00000411545:R1310M;ENSP00000377830:R1280M;ENSP00000360793:R1280M	ENSP00000260753:R1240M	R	+	2	0	0	KIF20B	91488757	91488757	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.769000	0.55303	0.275000	0.22094	0.591000	0.81541	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	1		14	2	2	0		0	1	73		73	73	1	2.060000	-3.292951	1	0.170000	NM_016195			51	51		224	221	1		1	1		0	0	73	0		9.999998e-01	5.820885e-01	0	3	0	7	0	51	224
HTR7	3363	broad.mit.edu	37	10	92508676	92508676	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000336152.3	-	2	1241	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N|HTR7_ENST00000371721.3_Silent_p.N405N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	405					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)			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)	TCCGGTTGATATTCCGGTACT	0.498																																						ENST00000336152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999610	0.990000	1.000000																										0				30						c.(1213-1215)aaT>aaC		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	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)						129.0	135.0	133.0					10																	92508676		2203	4300	6503	SO:0001819	synonymous_variant	3363	0	0					g.chr10:92508676A>G	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.1215T>C	chr10.hg19:g.92508676A>G		0					HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371721.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N	p.N405N	NM_019859.3	NP_062873.1	1	2	3	2.008551	P34969	5HT7R_HUMAN		2	1241	-			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	1	1	hg19	c.1215T>C	CCDS7408.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	1	0	1		2	2	2	0		0	0	167		167	164	1	2.060000	-20.000000	1	0.170000	NM_000872			101	99		860	847	1		1	0		0	0	167	0		1	0	0	0	0	1	0	101	860
HTR7	3363	broad.mit.edu	37	10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000336152.3	-	2	695	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H|HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	223					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)			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)	CATTTACATTCTGAGCCCATC	0.483																																						ENST00000336152.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(667-669)caG>caT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	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)						99.0	104.0	102.0					10																	92509222		2203	4300	6503	SO:0001583	missense	3363	0	0					g.chr10:92509222C>A	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.669G>T	chr10.hg19:g.92509222C>A	ENSP00000337949:p.Gln223His	0					HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H	p.Q223H	NM_019859.3	NP_062873.1	1	2	3	2.008551	P34969	5HT7R_HUMAN		2	695	-			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	1	1	hg19	c.669G>T	CCDS7408.1	1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928757	0.34002	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.28	5.28	0.74379	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.056782	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.31209	0.313;0.044	B;B	0.26614	0.071;0.064	T	0.04650	-1.0936	10	0.45353	T	0.12	.	12.026	0.53371	0.0:0.878:0.0:0.122	.	223;223	P34969;P34969-2	5HT7R_HUMAN;.	H	223	ENSP00000337949:Q223H;ENSP00000277874:Q223H;ENSP00000360784:Q223H;ENSP00000360786:Q223H	ENSP00000277874:Q223H	Q	-	3	2	2	HTR7	92499202	92499202	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.716000	0.61916	2.756000	0.94617	0.650000	0.86243	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.936680	1	0.170000	NM_000872			95	93		352	345	1		1	0		0	0	86	0		1	4.608760e-02	0	0	0	2	0	95	352
RPP30	10556	broad.mit.edu	37	10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000371703.3	+	9	869	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000413330.1_Missense_Mutation_p.P200S	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	200					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)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279																																						ENST00000371703.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993503	0.990000	1.000000																										0				8						c.(598-600)Cca>Tca		ribonuclease P/MRP 30kDa subunit							78.0	83.0	82.0					10																	92655655		2203	4295	6498	SO:0001583	missense	10556	0	0					g.chr10:92655655C>T	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.598C>T	chr10.hg19:g.92655655C>T	ENSP00000360768:p.Pro200Ser	0					RPP30_ENST00000413330.1_Missense_Mutation_p.P200S|RPP30_ENST00000489806.1_3'UTR	p.P200S	NM_006413.4	NP_006404.1	1	2	3	2.008551	P78346	RPP30_HUMAN		9	869	+			B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	1	1	hg19	c.598C>T	CCDS7411.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387205	0.82902	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.57436	0.4;0.42;0.53	5.79	5.79	0.91817	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.77245	-0.2659	10	0.66056	D	0.02	-19.3429	18.8041	0.92029	0.0:1.0:0.0:0.0	.	200;200	P78346;E9PB02	RPP30_HUMAN;.	S	200;200;190;222;144	ENSP00000360768:P200S;ENSP00000389182:P200S;ENSP00000277882:P222S	ENSP00000277882:P222S	P	+	1	0	0	RPP30	92645635	92645635	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.882000	0.69714	2.732000	0.93576	0.557000	0.71058	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.075758	1	0.170000	NM_006413			33	31		279	275	1		1	1		0	0	71	0		1	9.999972e-01	0	26	0	143	0	33	279
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522																																						ENST00000371697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D216Y(1)	large_intestine(1)	27						c.(646-648)Gat>Aat		ankyrin repeat domain 1 (cardiac muscle)							82.0	79.0	80.0					10																	92675933		2203	4300	6503	SO:0001583	missense	27063	0	0					g.chr10:92675933C>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>A	chr10.hg19:g.92675933C>T	ENSP00000360762:p.Asp216Asn	0						p.D216N	NM_014391.2	NP_055206.2	1	2	3	2.008551	Q15327	ANKR1_HUMAN		6	894	-		Colorectal(252;0.0475)	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	1	1	hg19	c.646G>A	CCDS7412.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	0	ANKRD1	92665913	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_014391			40	40		179	176	0		1	0		0	0	50	0		1	9.175962e-02	0	0	0	3	0	40	179
PCGF5	84333	broad.mit.edu	37	10	93011074	93011074	+	Silent	SNP	G	G	A	rs570347532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	117					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15980	0.0		0.0	False		,,,				2504	0.0				Colon(178;732 2696 46441 50370)	ENST00000336126.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				12						c.(349-351)ccG>ccA		polycomb group ring finger 5							90.0	86.0	87.0					10																	93011074		2202	4300	6502	SO:0001819	synonymous_variant	84333	4	121370	37				g.chr10:93011074G>A	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.351G>A	chr10.hg19:g.93011074G>A		0					PCGF5_ENST00000543648.1_Silent_p.P117P	p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	1	2	3	2.008551	Q86SE9	PCGF5_HUMAN		6	583	+			B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	1	1	hg19	c.351G>A	CCDS7413.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	1	0	0		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_032373			31	30		168	165	1		1	1		0	0	43	0		1	9.999969e-01	0	19	0	94	0	31	168
PCGF5	84333	broad.mit.edu	37	10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	151					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(451-453)Caa>Taa		polycomb group ring finger 5							131.0	124.0	126.0					10																	93011174		2203	4299	6502	SO:0001587	stop_gained	84333	0	0					g.chr10:93011174C>T	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.451C>T	chr10.hg19:g.93011174C>T	ENSP00000337500:p.Gln151*	0					PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	1	2	3	2.008551	Q86SE9	PCGF5_HUMAN		6	683	+			B7Z892|D3DR33|Q6PK47|Q86TD0	Nonsense_Mutation	SNP	ENST00000336126.5	0	1	hg19	c.451C>T	CCDS7413.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.802879	0.98498	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.112587	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-17.7437	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000337500:Q151X	Q	+	1	0	0	PCGF5	93001154	93001154	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_032373			67	65		327	318	1		1	1		0	0	92	0		1	9.999998e-01	0	10	0	103	0	67	327
HECTD2	143279	broad.mit.edu	37	10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000298068.5	+	9	975	c.881G>A	c.(880-882)cGc>cAc	p.R294H	HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000298068.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999718	0.990000	1.000000																										0				27						c.(880-882)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 2							98.0	99.0	99.0					10																	93244323		2203	4300	6503	SO:0001583	missense	143279	0	0					g.chr10:93244323G>A	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.881G>A	chr10.hg19:g.93244323G>A	ENSP00000298068:p.Arg294His	0					HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H	p.R294H	NM_182765.3	NP_877497	1	2	3	2.008551	Q5U5R9	HECD2_HUMAN		9	975	+			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	1	1	hg19	c.881G>A	CCDS7414.1	1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776438	0.70107	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39229	1.12;1.09	5.97	5.06	0.68205	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63957	0.794;0.92	T	0.71471	-0.4583	10	0.36615	T	0.2	.	17.2064	0.86920	0.0:0.1261:0.8739:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	298;20;294	ENSP00000401023:R298H;ENSP00000298068:R294H	ENSP00000298068:R294H	R	+	2	0	0	HECTD2	93234303	93234303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.069000	0.93967	1.508000	0.48769	-0.274000	0.10170	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.318805	1	0.170000				47	44		340	333	1		1	1		0	0	57	0		1	4.864700e-01	0	3	0	10	0	47	340
HECTD2	143279	broad.mit.edu	37	10	93256087	93256087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000298068.5	+	15	1732	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000446394.1_Silent_p.G550G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	546	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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACCAGTAGGCATCTGCAATG	0.363																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000298068.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996730	0.990000	1.000000																										0				27						c.(1636-1638)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 2							158.0	133.0	142.0					10																	93256087		2203	4300	6503	SO:0001819	synonymous_variant	143279	0	0					g.chr10:93256087C>T	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.1638C>T	chr10.hg19:g.93256087C>T		0					HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000446394.1_Silent_p.G550G	p.G546G	NM_182765.3	NP_877497	1	2	3	2.008551	Q5U5R9	HECD2_HUMAN		15	1732	+			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	0	1	hg19	c.1638C>T	CCDS7414.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	0	0	1		17	2	2	1		1	1	57		57	55	1	2.060000	-13.399410	1	0.170000				33	33		262	257	1		1	0		1	0	57	0		9.927633e-01	4.820445e-01	0	1	0	13	0	33	262
TNKS2	80351	broad.mit.edu	37	10	93608274	93608274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608274C>A	ENST00000371627.4	+	19	2872	c.2493C>A	c.(2491-2493)agC>agA	p.S831R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	831					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)			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)				GTCCATCTAGCCCATCAAGCC	0.507																																						ENST00000371627.4	1.000000	0.110000	3.500000e-01	1.600000e-01	0.230000	0.301332	0.230000	0.210000																										0				48						c.(2491-2493)agC>agA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							116.0	107.0	110.0					10																	93608274		2203	4300	6503	SO:0001583	missense	80351	0	0					g.chr10:93608274C>A	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.2493C>A	chr10.hg19:g.93608274C>A	ENSP00000360689:p.Ser831Arg	0						p.S831R	NM_025235.3	NP_079511.1	1	2	3	2.008551	Q9H2K2	TNKS2_HUMAN		19	2872	+		Colorectal(252;0.162)	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	0	1	hg19	c.2493C>A	CCDS7417.1	0	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479147	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.65549	-0.16	5.79	2.56	0.30785	5.79	2.56	0.30785	.	0.000000	0.64402	D	0.000001	T	0.50240	0.1604	L	0.44542	1.39	0.44677	D	0.997668	B	0.33413	0.411	B	0.32465	0.146	T	0.50030	-0.8875	10	0.72032	D	0.01	.	8.1326	0.31035	0.0:0.5625:0.0:0.4375	.	831	Q9H2K2	TNKS2_HUMAN	R	831	ENSP00000360689:S831R	ENSP00000360689:S831R	S	+	3	2	2	TNKS2	93598254	93598254	0.937000	0.31787	1.000000	0.80357	0.986000	0.74619	0.049000	0.14099	0.586000	0.29626	0.591000	0.81541	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	0	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-3.178014	1	0.170000	NM_025235			9	9		479	466	0		1	1		0	0	89	0		9.935574e-01	8.490494e-01	0	6	0	178	0	9	479
TNKS2	80351	broad.mit.edu	37	10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	839					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)			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)				TCTGCAGCCAGCAGTCTTGAC	0.488																																						ENST00000371627.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2515-2517)aGc>aAc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							109.0	101.0	104.0					10																	93608297		2203	4300	6503	SO:0001583	missense	80351	1	121412	31				g.chr10:93608297G>A	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.2516G>A	chr10.hg19:g.93608297G>A	ENSP00000360689:p.Ser839Asn	0						p.S839N	NM_025235.3	NP_079511.1	1	2	3	2.008551	Q9H2K2	TNKS2_HUMAN		19	2895	+		Colorectal(252;0.162)	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	1	1	hg19	c.2516G>A	CCDS7417.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052890	0.75960	.	.	ENSG00000107854	ENST00000371627	T	0.64991	-0.13	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.53249	1.67	0.45914	D	0.998755	P	0.45348	0.856	B	0.38562	0.276	T	0.55915	-0.8065	10	0.16420	T	0.52	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	839	Q9H2K2	TNKS2_HUMAN	N	839	ENSP00000360689:S839N	ENSP00000360689:S839N	S	+	2	0	0	TNKS2	93598277	93598277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.742000	0.94016	0.591000	0.81541	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	0	0	0		18	7	2	1		1	1	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_025235			77	75		414	404	1		1	1		1	0	91	0		1	9.987270e-01	0	20	0	94	0	77	414
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A	rs200229615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					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.R8H(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)				AGGCTAGATCGCCTTTTTATT	0.378																																						ENST00000265990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R8H(1)	large_intestine(1)	59						c.(22-24)cGc>cAc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							160.0	138.0	146.0					10																	93695422		2203	4300	6503	SO:0001583	missense	9044	1	121410	35				g.chr10:93695422G>A	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.23G>A	chr10.hg19:g.93695422G>A	ENSP00000265990:p.Arg8His	0						p.R8H	NM_003972.2	NP_003963.1	1	2	3	2.008551	O14981	BTAF1_HUMAN		2	331	+		Colorectal(252;0.0846)	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	1	1	hg19	c.23G>A	CCDS7419.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	0	BTAF1	93685402	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_003972			62	60		201	198	1		1	1		0	0	67	0		1	4.358886e-01	0	3	0	3	0	62	201
BTAF1	9044	broad.mit.edu	37	10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	164					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)			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)				ATTGGAATGAGTACTGAAGAA	0.373																																						ENST00000265990.6	1.000000	0.980000	1	9.900000e-01	0.990000	0.998468	0.990000	1.000000																										0				59						c.(490-492)aGt>aAt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							119.0	117.0	118.0					10																	93711250		2203	4300	6503	SO:0001583	missense	9044	0	0					g.chr10:93711250G>A	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.491G>A	chr10.hg19:g.93711250G>A	ENSP00000265990:p.Ser164Asn	0						p.S164N	NM_003972.2	NP_003963.1	1	2	3	2.008551	O14981	BTAF1_HUMAN		5	799	+		Colorectal(252;0.0846)	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	1	1	hg19	c.491G>A	CCDS7419.1	1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346355	0.11126	.	.	ENSG00000095564	ENST00000265990	D	0.89746	-2.56	5.13	3.98	0.46160	5.13	3.98	0.46160	Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	T	0.67373	0.2886	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64424	-0.6411	10	0.02654	T	1	0.5674	6.7274	0.23365	0.2115:0.0:0.7885:0.0	.	164	O14981	BTAF1_HUMAN	N	164	ENSP00000265990:S164N	ENSP00000265990:S164N	S	+	2	0	0	BTAF1	93701230	93701230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.401000	0.59716	2.563000	0.86464	0.591000	0.81541	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-19.618460	1	0.170000	NM_003972			59	58		494	485	1		1	1		0	0	96	0		1	9.274226e-01	0	6	0	33	0	59	494
BTAF1	9044	broad.mit.edu	37	10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	203					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)			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)				GTTTCGAGCAGGAATGAGCAA	0.363																																						ENST00000265990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(607-609)Gga>Tga		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							133.0	138.0	136.0					10																	93713536		2203	4300	6503	SO:0001587	stop_gained	9044	0	0					g.chr10:93713536G>T	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.607G>T	chr10.hg19:g.93713536G>T	ENSP00000265990:p.Gly203*	0						p.G203*	NM_003972.2	NP_003963.1	1	2	3	2.008551	O14981	BTAF1_HUMAN		6	915	+		Colorectal(252;0.0846)	B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	0	1	hg19	c.607G>T	CCDS7419.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.164873	0.98686	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-20.5445	19.7205	0.96142	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000265990:G203X	G	+	1	0	0	BTAF1	93703516	93703516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.723000	0.93209	0.585000	0.79938	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-4.038319	1	0.170000	NM_003972			141	139		513	508	1		1	1		0	0	114	0		1	9.999513e-01	0	11	0	43	0	141	513
BTAF1	9044	broad.mit.edu	37	10	93768637	93768637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)				TCATGGAATTCTGTGTGATGA	0.299																																						ENST00000265990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3865-3867)Ctg>Ttg		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							80.0	83.0	82.0					10																	93768637		2202	4299	6501	SO:0001819	synonymous_variant	9044	0	0					g.chr10:93768637C>T	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.3865C>T	chr10.hg19:g.93768637C>T		0					BTAF1_ENST00000544642.1_Silent_p.L117L	p.L1289L	NM_003972.2	NP_003963.1	1	2	3	2.008551	O14981	BTAF1_HUMAN		27	4173	+		Colorectal(252;0.0846)	B4E0W6|O43578	Silent	SNP	ENST00000265990.6	1	1	hg19	c.3865C>T	CCDS7419.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.502867	1	0.170000	NM_003972			56	54		228	227	1		1	1		0	0	43	0		1	9.997414e-01	0	12	0	41	0	56	228
CPEB3	22849	broad.mit.edu	37	10	93999697	93999697	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	ENST00000265997.4	-	2	583	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_ENST00000412050.4_Missense_Mutation_p.Q137H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	137	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGAAGTTCTGGAAGAGCA	0.662																																						ENST00000265997.4	1.000000	0.530000	1	7.400000e-01	0.990000	0.906721	0.990000	1.000000																										0				18						c.(409-411)caG>caT		cytoplasmic polyadenylation element binding protein 3							54.0	47.0	49.0					10																	93999697		2203	4300	6503	SO:0001583	missense	22849	0	0					g.chr10:93999697C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.411G>T	chr10.hg19:g.93999697C>A	ENSP00000265997:p.Gln137His	0					CPEB3_ENST00000412050.4_Missense_Mutation_p.Q137H	p.Q137H	NM_014912.4	NP_055727.3	1	2	3	2.008551	Q8NE35	CPEB3_HUMAN		2	583	-		Colorectal(252;0.0869)	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	0	1	hg19	c.411G>T	CCDS31246.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711382	0.30322	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.51817	0.7;0.69	3.68	2.76	0.32466	3.68	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.75484	0.969;0.969;0.986	T	0.55192	-0.8179	10	0.72032	D	0.01	-5.7008	10.0365	0.42131	0.0:0.8987:0.0:0.1013	.	137;137;137	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	137	ENSP00000398310:Q137H;ENSP00000265997:Q137H	ENSP00000265997:Q137H	Q	-	3	2	2	CPEB3	93989677	93989677	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.637000	0.61346	0.741000	0.32674	0.313000	0.20887	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-15.299860	1	0.170000	NM_014912			10	10		110	110	0		1	0		0	0	15	0		9.972819e-01	0	0	1	0	0	0	10	110
KIF11	3832	broad.mit.edu	37	10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	277	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)|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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(829-831)gCt>gTt		kinesin family member 11							72.0	71.0	72.0					10																	94373174		2203	4300	6503	SO:0001583	missense	3832	0	0					g.chr10:94373174C>T	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.830C>T	chr10.hg19:g.94373174C>T	ENSP00000260731:p.Ala277Val	0						p.A277V	NM_004523.3	NP_004514.2	1	2	3	2.008551	P52732	KIF11_HUMAN		8	920	+			A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	1	1	hg19	c.830C>T	CCDS7422.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.395280	0.96009	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	5.82	5.82	0.92795	5.82	5.82	0.92795	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	277	P52732	KIF11_HUMAN	V	277	ENSP00000260731:A277V	ENSP00000260731:A277V	A	+	2	0	0	KIF11	94363154	94363154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.745000	0.94114	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-19.763650	1	0.170000	NM_004523			34	33		155	152	0		1	1		0	0	32	0		1	7.087103e-01	0	3	0	10	0	34	155
KIF11	3832	broad.mit.edu	37	10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	390					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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3	1.000000	0.570000	1	7.000000e-01	0.850000	0.847722	0.850000	1.000000																										0				29						c.(1168-1170)gCt>gAt		kinesin family member 11							138.0	136.0	137.0					10																	94381182		2203	4300	6503	SO:0001583	missense	3832	0	0					g.chr10:94381182C>A	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.1169C>A	chr10.hg19:g.94381182C>A	ENSP00000260731:p.Ala390Asp	0						p.A390D	NM_004523.3	NP_004514.2	1	2	3	2.008551	P52732	KIF11_HUMAN		10	1259	+			A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	1	1	hg19	c.1169C>A	CCDS7422.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147649	0.77888	.	.	ENSG00000138160	ENST00000260731	T	0.73897	-0.79	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.125717	0.52532	D	0.000064	T	0.81288	0.4791	L	0.60455	1.87	0.54753	D	0.999985	D	0.76494	0.999	D	0.68621	0.959	T	0.78250	-0.2277	10	0.25751	T	0.34	.	12.7613	0.57365	0.0:0.9203:0.0:0.0797	.	390	P52732	KIF11_HUMAN	D	390	ENSP00000260731:A390D	ENSP00000260731:A390D	A	+	2	0	0	KIF11	94371162	94371162	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.545000	0.67237	2.320000	0.78422	0.485000	0.47835	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-7.960336	1	0.170000	NM_004523			29	28		384	378	0		1	1		0	0	73	0		1	4.251906e-01	0	3	0	17	0	29	384
HHEX	3087	broad.mit.edu	37	10	94452255	94452255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000282728.5	+	2	2291	c.492G>A	c.(490-492)ccG>ccA	p.P164P	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	164					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)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607																																						ENST00000282728.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(490-492)ccG>ccA		hematopoietically expressed homeobox							37.0	40.0	39.0					10																	94452255		2203	4300	6503	SO:0001819	synonymous_variant	3087	0	0					g.chr10:94452255G>A	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.492G>A	chr10.hg19:g.94452255G>A		0					HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.P164P	NM_002729.4	NP_002720.1	1	2	3	2.008551	Q03014	HHEX_HUMAN		2	2291	+			B1AQ17|Q96CE9	Silent	SNP	ENST00000282728.5	1	1	hg19	c.492G>A	CCDS7423.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.200769	1	0.170000				54	53		258	252	1		1	1		0	0	69	0		1	1	0	42	0	89	0	54	258
CYP26A1	1592	broad.mit.edu	37	10	94834670	94834670	+	Silent	SNP	C	C	T	rs199767327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000224356.4	+	3	594	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CYP26A1_ENST00000371531.1_Silent_p.R114R|CYP26A1_ENST00000394139.1_Silent_p.R114R	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	183					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)			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)	AGGTGAAGCGCCTCATGTTCC	0.652																																						ENST00000224356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(547-549)cgC>cgT		cytochrome P450, family 26, subfamily A, polypeptide 1	Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)						45.0	49.0	47.0					10																	94834670		2203	4300	6503	SO:0001819	synonymous_variant	1592	0	0					g.chr10:94834670C>T	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.549C>T	chr10.hg19:g.94834670C>T		0					CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000371531.1_Silent_p.R114R	p.R183R	NM_000783.3	NP_000774.2	1	2	3	2.008551	O43174	CP26A_HUMAN		3	594	+		Colorectal(252;0.122)	B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	ENST00000224356.4	1	1	hg19	c.549C>T	CCDS7426.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				92	92		414	407	1		1	0		0	0	76	0		1	0	0	0	0	1	0	92	414
CYP26A1	1592	broad.mit.edu	37	10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000224356.4	+	6	1109	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	CYP26A1_ENST00000371531.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	355					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)			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)	CAACTTAAATACATCGGGTGT	0.383																																						ENST00000224356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1063-1065)tAc>tGc		cytochrome P450, family 26, subfamily A, polypeptide 1	Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)						111.0	112.0	112.0					10																	94836365		2203	4300	6503	SO:0001583	missense	1592	0	0					g.chr10:94836365A>G	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.1064A>G	chr10.hg19:g.94836365A>G	ENSP00000224356:p.Tyr355Cys	0					CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000371531.1_Missense_Mutation_p.Y286C	p.Y355C	NM_000783.3	NP_000774.2	1	2	3	2.008551	O43174	CP26A_HUMAN		6	1109	+		Colorectal(252;0.122)	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	1	1	hg19	c.1064A>G	CCDS7426.1	1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535437	0.64972	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92221	0.5784	10	0.87932	D	0	-17.7244	15.3318	0.74219	1.0:0.0:0.0:0.0	.	286;355	B3KNI4;O43174	.;CP26A_HUMAN	C	286;355;286	ENSP00000360586:Y286C;ENSP00000224356:Y355C;ENSP00000377695:Y286C	ENSP00000224356:Y355C	Y	+	2	0	0	CYP26A1	94826355	94826355	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	8.578000	0.90777	2.214000	0.71695	0.528000	0.53228	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000				73	72		369	362	1		1	0		0	0	97	0		1	0	0	1	0	0	0	73	369
MYOF	26509	broad.mit.edu	37	10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000359263.4	-	48	5424	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1809					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)			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						ATTTCCTCTCCTGTGATGCTT	0.443																																						ENST00000359263.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(5425-5427)Gga>Aga		myoferlin							300.0	282.0	288.0					10																	95082866		1969	4162	6131	SO:0001583	missense	26509	0	0					g.chr10:95082866C>T	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.5425G>A	chr10.hg19:g.95082866C>T	ENSP00000352208:p.Gly1809Arg	0					MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R	p.G1809R	NM_013451.3	NP_038479.1	1	2	3	2.008551	Q9NZM1	MYOF_HUMAN		48	5424	-			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	1	1	hg19	c.5425G>A	CCDS41551.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.346743	0.95807	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-1.89	5.36	5.36	0.76844	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047975	0.85682	N	0.000000	D	0.94466	0.8219	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94138	0.7394	10	0.51188	T	0.08	-18.5395	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1796;1809	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1796;1809;1809;1799	ENSP00000351094:G1796R;ENSP00000352208:G1809R;ENSP00000360556:G1809R;ENSP00000360557:G1799R	ENSP00000351094:G1796R	G	-	1	0	0	MYOF	95072856	95072856	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.651000	0.83577	2.797000	0.96272	0.563000	0.77884	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	1	0	0		2	2	2	0		0	0	183		183	182	1	2.060000	-20.000000	1	0.170000	NM_013451			126	119		767	753	1		1	1		0	0	183	0		1	1	0	171	0	385	0	126	767
RBP4	5950	broad.mit.edu	37	10	95353719	95353719	+	Silent	SNP	G	G	A	rs374650128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	RBP4_ENST00000371469.2_Silent_p.L141L|RBP4_ENST00000371464.3_Silent_p.L143L|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	143					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597																																					Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(427-429)ctC>ctT		retinol binding protein 4, plasma	Vitamin A(DB00162)	G		0,4406		0,0,2203	146.0	120.0	129.0		429	-11.6	0.0	10		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBP4	NM_006744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		143/202	95353719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5950	4	121412	38				g.chr10:95353719G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.429C>T	chr10.hg19:g.95353719G>A		0					RBP4_ENST00000371469.2_Silent_p.L141L|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L	p.L143L			1	2	3	2.008551	P02753	RET4_HUMAN		5	748	-		Colorectal(252;0.122)	D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Silent	SNP	ENST00000371467.1	1	1	hg19	c.429C>T	CCDS31249.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	1	0	0		2	2	2	0		0	0	108		108	106	1	2.060000	-2.948176	1	0.170000	NM_006744			115	110		540	527	1		1	1		0	0	108	0		1	1	0	6	0	180	0	115	540
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A	rs577540732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	RBP4_ENST00000371469.2_Missense_Mutation_p.T129M|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		15959	0.001		0.0	False		,,,				2504	0.0				Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(391-393)aCg>aTg		retinol binding protein 4, plasma	Vitamin A(DB00162)						157.0	111.0	126.0					10																	95353756		2203	4300	6503	SO:0001583	missense	5950	6	121412	40				g.chr10:95353756G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.392C>T	chr10.hg19:g.95353756G>A	ENSP00000360522:p.Thr131Met	0					RBP4_ENST00000371469.2_Missense_Mutation_p.T129M|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M	p.T131M			1	2	3	2.008551	P02753	RET4_HUMAN		5	711	-		Colorectal(252;0.122)	D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	1	1	hg19	c.392C>T	CCDS31249.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480046	0.84747	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	5.82	5.82	0.92795	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.044055	0.85682	D	0.000000	D	0.90352	0.6981	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.66497	0.944	D	0.90539	0.4501	10	0.87932	D	0	-28.7418	20.0851	0.97797	0.0:0.0:1.0:0.0	.	131	P02753	RET4_HUMAN	M	131;129;131;129	ENSP00000360519:T131M;ENSP00000360522:T131M	ENSP00000360518:T129M	T	-	2	0	0	RBP4	95343746	95343746	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.843000	0.69424	2.743000	0.94032	0.563000	0.77884	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	0	0	0		22	9	2	1		1	1	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_006744			88	86		417	412	0		1	0		1	0	72	0		1	9.999629e-01	0	2	0	150	0	88	417
PDE6C	5146	broad.mit.edu	37	10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	475					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)			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)	AATTTCAAGAGAAGTTAAATG	0.308																																						ENST00000371447.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999585	0.990000	1.000000																										0				42						c.(1423-1425)gaG>gaT		phosphodiesterase 6C, cGMP-specific, cone, alpha prime	Caffeine(DB00201)						75.0	77.0	76.0					10																	95396763		2201	4299	6500	SO:0001583	missense	5146	0	0					g.chr10:95396763G>T	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.1425G>T	chr10.hg19:g.95396763G>T	ENSP00000360502:p.Glu475Asp	0						p.E475D	NM_006204.3	NP_006195.3	1	2	3	2.008551	P51160	PDE6C_HUMAN		11	1563	+		Colorectal(252;0.123)	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	1	1	hg19	c.1425G>T	CCDS7429.1	1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904077	0.33628	.	.	ENSG00000095464	ENST00000371447	T	0.65549	-0.16	5.0	0.877	0.19145	5.0	0.877	0.19145	.	0.047002	0.85682	D	0.000000	T	0.50394	0.1613	L	0.54965	1.715	0.48975	D	0.999737	B	0.15719	0.014	B	0.16289	0.015	T	0.41840	-0.9486	10	0.44086	T	0.13	.	6.0976	0.20028	0.2834:0.0:0.5933:0.1234	.	475	P51160	PDE6C_HUMAN	D	475	ENSP00000360502:E475D	ENSP00000360502:E475D	E	+	3	2	2	PDE6C	95386753	95386753	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.304000	0.33482	0.398000	0.25338	0.561000	0.74099	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_006204			19	19		102	101	1		1			0	0	25	0		9.999943e-01	0	0	0	0	0	0	19	102
PLCE1	51196	broad.mit.edu	37	10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1218					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)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428																																						ENST00000371380.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(3652-3654)tTt>tCt		phospholipase C, epsilon 1							199.0	189.0	192.0					10																	96018655		1911	4129	6040	SO:0001583	missense	51196	0	0					g.chr10:96018655T>C		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.3653T>C	chr10.hg19:g.96018655T>C	ENSP00000360431:p.Phe1218Ser	0					PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S	p.F1218S			1	2	3	2.008551	Q9P212	PLCE1_HUMAN		11	3888	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	1	1	hg19	c.3653T>C	CCDS41552.1	1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760881	0.89932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.62723	1.935	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.84312	0.0511	10	0.87932	D	0	.	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1202;910;1218	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1218;1218;910;910	ENSP00000260766:F1218S;ENSP00000360431:F1218S;ENSP00000360438:F910S;ENSP00000360426:F910S	ENSP00000260766:F1218S	F	+	2	0	0	PLCE1	96008645	96008645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.622000	0.83099	2.203000	0.70933	0.454000	0.30748	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_016341			98	98		438	425	1		1	0		0	0	77	0		1	1.573684e-01	0	0	0	4	0	98	438
PLCE1	51196	broad.mit.edu	37	10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1278					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)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433																																						ENST00000371380.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(3832-3834)gTc>gGc		phospholipase C, epsilon 1							240.0	218.0	225.0					10																	96022269		1938	4142	6080	SO:0001583	missense	51196	0	0					g.chr10:96022269T>G		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.3833T>G	chr10.hg19:g.96022269T>G	ENSP00000360431:p.Val1278Gly	0					PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G	p.V1278G			1	2	3	2.008551	Q9P212	PLCE1_HUMAN		13	4068	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	1	1	hg19	c.3833T>G	CCDS41552.1	1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209914	0.39003	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25414	1.8;1.8;1.83;1.83	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.073163	0.56097	D	0.000034	T	0.13500	0.0327	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.16305	-1.0407	10	0.22706	T	0.39	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1262;970;1278	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	1278;1278;970;970	ENSP00000260766:V1278G;ENSP00000360431:V1278G;ENSP00000360438:V970G;ENSP00000360426:V970G	ENSP00000260766:V1278G	V	+	2	0	0	PLCE1	96012259	96012259	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.211000	0.72182	2.261000	0.74972	0.533000	0.62120	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	0	0	1		20	2	2	1		1	1	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_016341			168	167		741	724	1		1	0		1	0	147	0		1	5.776897e-01	0	1	0	9	0	168	741
PLCE1	51196	broad.mit.edu	37	10	96022417	96022417	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000260766.3_Silent_p.L1327L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000371385.3_Silent_p.L1019L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1327					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)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478																																						ENST00000371380.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(3979-3981)ctT>ctC		phospholipase C, epsilon 1							203.0	199.0	200.0					10																	96022417		2017	4189	6206	SO:0001819	synonymous_variant	51196	0	0					g.chr10:96022417T>C		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.3981T>C	chr10.hg19:g.96022417T>C		0					PLCE1_ENST00000371385.3_Silent_p.L1019L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000260766.3_Silent_p.L1327L	p.L1327L			1	2	3	2.008551	Q9P212	PLCE1_HUMAN		13	4216	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	1	1	hg19	c.3981T>C	CCDS41552.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000	NM_016341			134	131		620	606	1		1	1		0	0	151	0		1	4.949293e-01	0	2	0	7	0	134	620
PLCE1	51196	broad.mit.edu	37	10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1677					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)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318																																						ENST00000371380.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(5029-5031)tTt>tCt		phospholipase C, epsilon 1							61.0	54.0	56.0					10																	96044717		1798	4076	5874	SO:0001583	missense	51196	0	0					g.chr10:96044717T>C		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.5030T>C	chr10.hg19:g.96044717T>C	ENSP00000360431:p.Phe1677Ser	0					PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S|PLCE1-AS1_ENST00000596633.1_RNA	p.F1677S			1	2	3	2.008551	Q9P212	PLCE1_HUMAN		21	5265	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	1	1	hg19	c.5030T>C	CCDS41552.1	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730133	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	5.69	5.69	0.88448	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.255913	0.39083	N	0.001465	T	0.63438	0.2511	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	T	0.65817	-0.6076	10	0.59425	D	0.04	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1661;1369;1677	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1677;1677;1369;1369	ENSP00000260766:F1677S;ENSP00000360431:F1677S;ENSP00000360438:F1369S;ENSP00000360426:F1369S	ENSP00000260766:F1677S	F	+	2	0	0	PLCE1	96034707	96034707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.953000	0.87836	2.178000	0.69098	0.454000	0.30748	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_016341			47	47		175	174	1		1	1		0	0	48	0		1	9.149463e-01	0	2	0	16	0	47	175
PLCE1	51196	broad.mit.edu	37	10	96076504	96076504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_ENST00000260766.3_Silent_p.T2111T|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371375.1_Silent_p.T1803T|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371385.3_Silent_p.T1803T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2111	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443																																						ENST00000371380.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				8						c.(6331-6333)acC>acT		phospholipase C, epsilon 1							69.0	69.0	69.0					10																	96076504		1902	4108	6010	SO:0001819	synonymous_variant	51196	0	0					g.chr10:96076504C>T		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.6333C>T	chr10.hg19:g.96076504C>T		0					RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371385.3_Silent_p.T1803T|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000260766.3_Silent_p.T2111T|NOC3L_ENST00000543788.1_Intron	p.T2111T			1	2	3	2.008551	Q9P212	PLCE1_HUMAN		28	6568	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	1	1	hg19	c.6333C>T	CCDS41552.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-2.701789	1	0.170000	NM_016341			28	28		138	135	1		1	1		0	0	39	0		1	8.047097e-01	0	5	0	12	0	28	138
NOC3L	64318	broad.mit.edu	37	10	96100033	96100033	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	594					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299																																						ENST00000371361.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				29						c.(1780-1782)Ggt>Tgt		nucleolar complex associated 3 homolog (S. cerevisiae)							95.0	92.0	93.0					10																	96100033		2203	4298	6501	SO:0001630	splice_region_variant	64318	0	0					g.chr10:96100033C>A	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.1780+1G>T	chr10.hg19:g.96100033C>A		0					NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	p.G594C	NM_022451.9	NP_071896.8	1	2	3	2.008551	Q8WTT2	NOC3L_HUMAN		16	1880	-		Colorectal(252;0.0897)	Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	1	0	hg19	c.1780G>T	CCDS7433.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344627	0.82022	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.30981	1.98;1.51;1.51	5.19	5.19	0.71726	5.19	5.19	0.71726	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	9	.	.	.	-12.8635	19.0883	0.93215	0.0:1.0:0.0:0.0	.	594	Q8WTT2	NOC3L_HUMAN	C	332;594;594	ENSP00000437838:G332C;ENSP00000360412:G594C;ENSP00000360401:G594C	.	G	-	1	0	0	NOC3L	96090023	96090023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.626000	0.67777	2.596000	0.87737	0.655000	0.94253	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.796245	1	0.170000	NM_022451	Missense_Mutation		31	31		172	168	1		1	1		0	0	57	0		1	9.973123e-01	0	10	0	44	0	31	172
NOC3L	64318	broad.mit.edu	37	10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	127					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348																																						ENST00000371361.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(379-381)Cat>Tat		nucleolar complex associated 3 homolog (S. cerevisiae)							97.0	89.0	91.0					10																	96117060		2203	4300	6503	SO:0001583	missense	64318	1	121410	28				g.chr10:96117060G>A	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.379C>T	chr10.hg19:g.96117060G>A	ENSP00000360412:p.His127Tyr	0					NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y|NOC3L_ENST00000463649.1_5'UTR	p.H127Y	NM_022451.9	NP_071896.8	1	2	3	2.008551	Q8WTT2	NOC3L_HUMAN		4	479	-		Colorectal(252;0.0897)	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	1	1	hg19	c.379C>T	CCDS7433.1	1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064960	0.01934	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11821	2.74;2.74	5.16	0.841	0.18918	5.16	0.841	0.18918	.	0.807371	0.12019	N	0.507107	T	0.06826	0.0174	N	0.08118	0	0.21627	N	0.999615	B	0.19935	0.04	B	0.34779	0.189	T	0.48937	-0.8990	10	0.07813	T	0.8	-9.2634	6.2289	0.20724	0.1392:0.0:0.5021:0.3587	.	127	Q8WTT2	NOC3L_HUMAN	Y	127	ENSP00000360412:H127Y;ENSP00000360401:H127Y	ENSP00000360401:H127Y	H	-	1	0	0	NOC3L	96107050	96107050	0.975000	0.34042	0.895000	0.35142	0.422000	0.31414	1.859000	0.39418	0.260000	0.21731	0.655000	0.94253	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_022451			58	58		195	195	1		1	1		0	0	42	0		1	9.654838e-01	0	5	0	16	0	58	195
TBC1D12	23232	broad.mit.edu	37	10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	733							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358																																						ENST00000225235.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2197-2199)Gaa>Aaa		TBC1 domain family, member 12							92.0	86.0	88.0					10																	96291155		1854	4093	5947	SO:0001583	missense	23232	0	0					g.chr10:96291155G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2197G>A	chr10.hg19:g.96291155G>A	ENSP00000225235:p.Glu733Lys	0					TBC1D12_ENST00000485048.1_3'UTR	p.E733K	NM_015188.1	NP_056003.1	1	2	3	2.008551	O60347	TBC12_HUMAN		12	2307	+		Colorectal(252;0.0429)	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	1	1	hg19	c.2197G>A	CCDS41553.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426670	0.83667	.	.	ENSG00000108239	ENST00000225235	T	0.24151	1.87	5.31	5.31	0.75309	5.31	5.31	0.75309	Rab-GAP/TBC domain (1);	0.166270	0.53938	D	0.000047	T	0.37919	0.1021	L	0.61218	1.895	0.53005	D	0.999969	P	0.50943	0.94	P	0.49140	0.601	T	0.14476	-1.0471	10	0.62326	D	0.03	-9.8376	16.527	0.84333	0.0:0.0:1.0:0.0	.	733	O60347	TBC12_HUMAN	K	733	ENSP00000225235:E733K	ENSP00000225235:E733K	E	+	1	0	0	TBC1D12	96281145	96281145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.199000	0.51043	2.768000	0.95171	0.650000	0.86243	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2	0	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000				97	95		413	401	1		1	1		0	0	100	0		1	9.686172e-01	0	2	0	24	0	97	413
HELLS	3070	broad.mit.edu	37	10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											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)		GATCGATGAAGAATTGGTAAC	0.343																																						ENST00000348459.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1777-1779)Gaa>Taa		helicase, lymphoid-specific							52.0	57.0	56.0					10																	96351995		2202	4299	6501	SO:0001587	stop_gained	3070	0	0					g.chr10:96351995G>T	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.1777G>T	chr10.hg19:g.96351995G>T	ENSP00000239027:p.Glu593*	0					HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394036.1_3'UTR	p.E593*	NM_018063.3	NP_060533.2	1	2	3	2.008551				16	1882	+		Colorectal(252;0.0429)		Nonsense_Mutation	SNP	ENST00000348459.5	0	1	hg19	c.1777G>T	CCDS7434.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.127452	0.94473	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.160191	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9214	18.2637	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	593;495;639;30	.	ENSP00000239027:E593X	E	+	1	0	0	HELLS	96341985	96341985	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	3.534000	0.53568	2.550000	0.86006	0.563000	0.77884	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_018063			45	45		203	197	0		1	0		0	0	53	0		1	7.109655e-01	0	0	0	13	0	45	203
CYP2C18	1562	broad.mit.edu	37	10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	137					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)			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)	TTTTGGGATGGGGAAGAGGAG	0.478																																						ENST00000285979.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(409-411)Ggg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18	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)						124.0	116.0	119.0					10																	96447959		2203	4300	6503	SO:0001583	missense	1562	0	0					g.chr10:96447959G>T	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.409G>T	chr10.hg19:g.96447959G>T	ENSP00000285979:p.Gly137Trp	0					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	p.G137W	NM_000772.2	NP_000763.1	1	2	3	2.008551	P33260	CP2CI_HUMAN		3	608	+		Colorectal(252;0.09)	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	1	1	hg19	c.409G>T	CCDS7435.1	1	.	.	.	.	.	.	.	.	.	.	g	18.84	3.708896	0.68615	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71461	-0.57;-0.57	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.89118	0.6624	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	137;137	Q4VAT5;P33260	.;CP2CI_HUMAN	W	137	ENSP00000341293:G137W;ENSP00000285979:G137W	ENSP00000285979:G137W	G	+	1	0	0	CYP2C18	96437949	96437949	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.658000	0.91110	2.105000	0.64084	0.306000	0.20318	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-2.550646	1	0.170000	NM_000772			88	87		384	377	1		1	1		0	0	97	0		1	9.999989e-01	0	45	0	43	0	88	384
CYP2C18	1562	broad.mit.edu	37	10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	350					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)			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)	TACACAGATGCTGTGGTGCAC	0.498																																						ENST00000285979.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1048-1050)gCt>gAt		cytochrome P450, family 2, subfamily C, polypeptide 18	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)						247.0	202.0	217.0					10																	96484190		2203	4300	6503	SO:0001583	missense	1562	0	0					g.chr10:96484190C>A	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.1049C>A	chr10.hg19:g.96484190C>A	ENSP00000285979:p.Ala350Asp	0					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	p.A350D	NM_000772.2	NP_000763.1	1	2	3	2.008551	P33260	CP2CI_HUMAN		7	1248	+		Colorectal(252;0.09)	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	1	1	hg19	c.1049C>A	CCDS7435.1	1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121808	0.56613	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73258	-0.73;-0.73	4.15	4.15	0.48705	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.90981	0.7164	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.943	D	0.94486	0.7697	10	0.87932	D	0	.	13.9702	0.64235	0.0:1.0:0.0:0.0	.	291;350	Q4VAT5;P33260	.;CP2CI_HUMAN	D	291;350	ENSP00000341293:A291D;ENSP00000285979:A350D	ENSP00000285979:A350D	A	+	2	0	0	CYP2C18	96474180	96474180	1.000000	0.71417	0.078000	0.20375	0.093000	0.18481	5.162000	0.64942	2.115000	0.64714	0.313000	0.20887	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	1	0	1		2	2	2	0		0	0	171		171	169	1	2.060000	-20.000000	1	0.170000	NM_000772			128	128		541	529	1		1	1		0	0	171	0		1	1	0	45	0	58	0	128	541
CYP2C18	1562	broad.mit.edu	37	10	96493196	96493196	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						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)			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)	TTCTCAGCAGGTAATAGATAT	0.438																																						ENST00000285979.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.e8+1		cytochrome P450, family 2, subfamily C, polypeptide 18	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)						127.0	114.0	119.0					10																	96493196		2203	4300	6503	SO:0001630	splice_region_variant	1562	0	0					g.chr10:96493196G>A	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.1291+1G>A	chr10.hg19:g.96493196G>A		0					CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site		NM_000772.2	NP_000763.1	1	2	3	2.008551	P33260	CP2CI_HUMAN		8	1490	+		Colorectal(252;0.09)	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Splice_Site	SNP	ENST00000285979.6	0	1	hg19		CCDS7435.1	1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405243	0.25378	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.05	3.14	0.36123	4.05	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3368	0.38056	0.1076:0.0:0.8924:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CYP2C18	96483186	96483186	1.000000	0.71417	0.995000	0.50966	0.163000	0.22366	8.335000	0.90031	0.886000	0.36113	0.455000	0.32223	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	0	0	1		17	2	2	1		1	1	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_000772	Intron		110	108		385	378	1		1	0		1	0	103	0		1	5.002777e-02	0	0	0	2	0	110	385
CYP2C9	1559	broad.mit.edu	37	10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCATAAACGTTTTGATTAT	0.373																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6	1.000000	0.890000	1	9.900000e-01	0.990000	0.991826	0.990000	1.000000																										0				34						c.(556-558)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 9	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)						121.0	121.0	121.0					10																	96707611		2203	4300	6503	SO:0001583	missense	1559	0	0					g.chr10:96707611G>A	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.557G>A	chr10.hg19:g.96707611G>A	ENSP00000260682:p.Arg186His	0						p.R186H	NM_000771.3	NP_000762.2	1	2	3	2.008551	P11712	CP2C9_HUMAN		4	569	+		Colorectal(252;0.0902)	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	1	1	hg19	c.557G>A	CCDS7437.1	1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100572	0.56183	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14022	2.54	3.55	3.55	0.40652	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.21468	0.0517	M	0.86864	2.845	0.39244	D	0.963903	P;P	0.49447	0.924;0.924	B;B	0.40228	0.323;0.323	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	H	186	ENSP00000260682:R186H	ENSP00000260682:R186H	R	+	2	0	0	CYP2C9	96697601	96697601	1.000000	0.71417	0.742000	0.31022	0.906000	0.53458	4.197000	0.58413	1.955000	0.56771	0.491000	0.48974	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-18.661030	1	0.170000	NM_000771			65	65		615	602	0		1			0	0	97	0		1	0	0	0	0	0	0	65	615
SORBS1	10580	broad.mit.edu	37	10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000361941.3	-	28	3037	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 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)		CAAGGGTGGGGTCAGGGCCAG	0.637																																						ENST00000361941.3	1.000000	0.680000	1	8.500000e-01	0.990000	0.948044	0.990000	1.000000																										0				42						c.(3010-3012)aCc>aTc		sorbin and SH3 domain containing 1							34.0	38.0	36.0					10																	97096906		2203	4300	6503	SO:0001583	missense	10580	0	0					g.chr10:97096906G>A	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.3011C>T	chr10.hg19:g.97096906G>A	ENSP00000355136:p.Thr1004Ile	0					SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Intron	p.T1004I	NM_001034954.1	NP_001030126	1	2	3	2.008551				28	3037	-		Colorectal(252;0.0429)		Missense_Mutation	SNP	ENST00000361941.3	1	1	hg19	c.3011C>T	CCDS31255.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653179	0.88056	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.10668	2.87;2.85;2.87	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.43579	D	0.000555	T	0.20170	0.0485	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13818	-1.0495	10	0.17832	T	0.49	-13.6303	19.5597	0.95367	0.0:0.0:1.0:0.0	.	958;1004	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	I	1004;958;1004	ENSP00000360293:T1004I;ENSP00000360271:T958I;ENSP00000355136:T1004I	ENSP00000355136:T1004I	T	-	2	0	0	SORBS1	97086896	97086896	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.188000	0.94921	2.641000	0.89580	0.561000	0.74099	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				21	20		218	212	0		1			0	0	35	0		9.999974e-01	0	0	0	0	0	0	21	218
ALDH18A1	5832	broad.mit.edu	37	10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	138	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		AGGGCCTGCCGCACGCTCTGA	0.552																																						ENST00000371224.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(412-414)Cgg>Tgg		aldehyde dehydrogenase 18 family, member A1							115.0	102.0	106.0					10																	97397085		2203	4300	6503	SO:0001583	missense	5832	0	0					g.chr10:97397085G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.412C>T	chr10.hg19:g.97397085G>A	ENSP00000360268:p.Arg138Trp	0					ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W	p.R138W	NM_002860.3	NP_002851.2	1	2	3	2.008551	P54886	P5CS_HUMAN		4	549	-		Colorectal(252;0.0402)	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	1	1	hg19	c.412C>T	CCDS7443.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052093	0.75960	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.79454	-1.27;-1.27	5.6	1.25	0.21368	5.6	1.25	0.21368	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88794	0.3280	10	0.87932	D	0	-18.3088	13.2574	0.60087	0.0:0.0:0.4611:0.5389	.	138;138	P54886;P54886-2	P5CS_HUMAN;.	W	138	ENSP00000360268:R138W;ENSP00000360265:R138W	ENSP00000360265:R138W	R	-	1	2	2	ALDH18A1	97387075	97387075	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.162000	0.31786	0.261000	0.21753	0.555000	0.69702	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	1	0	1		2	2	2	0		0	0	91		91	88	1	2.060000	-20.000000	1	0.170000	NM_002860			77	77		363	358	1		1	1		0	0	91	0		1	1	0	56	0	136	0	77	363
TCTN3	26123	broad.mit.edu	37	10	97440291	97440291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000371217.5	-	13	1551	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	TCTN3_ENST00000265993.9_Missense_Mutation_p.L528M|TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M			Q6NUS6	TECT3_HUMAN	tectonic family member 3	510					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		GGGTTGGACAGGAGACCTACA	0.463																																						ENST00000371217.5	1.000000	0.140000	3.300000e-01	1.800000e-01	0.240000	0.308431	0.240000	0.230000																										0				15						c.(1528-1530)Ctg>Atg		tectonic family member 3							213.0	201.0	205.0					10																	97440291		2203	4300	6503	SO:0001583	missense	26123	0	0					g.chr10:97440291G>T	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.1528C>A	chr10.hg19:g.97440291G>T	ENSP00000360261:p.Leu510Met	0					TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M|TCTN3_ENST00000265993.9_Missense_Mutation_p.L528M	p.L510M			1	2	3	2.008551	Q6NUS6	TECT3_HUMAN		13	1551	-		Colorectal(252;0.0815)	A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	0	1	hg19	c.1528C>A	CCDS31258.2	0	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910012	0.52439	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.85861	-2.04	5.57	4.66	0.58398	5.57	4.66	0.58398	.	1.096970	0.06730	N	0.776530	D	0.89649	0.6776	M	0.73598	2.24	0.24577	N	0.993896	P;P;P	0.46621	0.836;0.8;0.881	P;B;P	0.53185	0.572;0.347;0.72	T	0.78157	-0.2313	10	0.33940	T	0.23	-37.034	10.7357	0.46124	0.0896:0.0:0.9104:0.0	.	362;510;332	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	M	510;362;528;332	ENSP00000265993:L510M	ENSP00000265993:L510M	L	-	1	2	2	TCTN3	97430281	97430281	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.974000	0.49272	2.640000	0.89533	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	0	0	1		2	2	2	0		0	0	192		192	192	1	2.060000	-2.140929	0	0.170000	NM_015631			17	17		839	827	0		1	1		0	0	192	0		9.999599e-01	9.684227e-01	0	4	0	278	0	17	839
CCNJ	54619	broad.mit.edu	37	10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	291						nucleus (GO:0005634)				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)		ACTGCAGTATCGCCATCCTAC	0.498																																						ENST00000265992.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(871-873)Cgc>Tgc		cyclin J							306.0	256.0	273.0					10																	97817750		2203	4300	6503	SO:0001583	missense	54619	0	0					g.chr10:97817750C>T	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.871C>T	chr10.hg19:g.97817750C>T	ENSP00000265992:p.Arg291Cys	0					CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	p.R291C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	1	2	3	2.008551	Q5T5M9	CCNJ_HUMAN		6	1238	+			B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	1	1	hg19	c.871C>T	CCDS7445.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230083	0.39399	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.46063	0.88;1.47;0.88	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.284824	0.39687	N	0.001287	T	0.24392	0.0591	N	0.08118	0	0.45284	D	0.998287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05419	-1.0886	10	0.39692	T	0.17	-12.6063	12.6537	0.56776	0.0:0.92:0.0:0.08	.	302;290;291	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	C	291;302;290;291	ENSP00000265992:R291C;ENSP00000384498:R290C;ENSP00000441415:R291C	ENSP00000265992:R291C	R	+	1	0	0	CCNJ	97807740	97807740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.744000	0.94065	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-3.794100	1	0.170000	NM_019084			148	146		571	547	1		1	1		0	0	137	0		1	9.980121e-01	0	5	0	33	0	148	571
ZNF518A	9849	broad.mit.edu	37	10	97916210	97916210	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	ENST00000534948.1	+	0	988							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)		ATTCATTATGCACTAAAAAAT	0.269																																						ENST00000534948.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24								zinc finger protein 518A							41.0	41.0	41.0					10																	97916210		1791	4059	5850			9849	0	0					g.chr10:97916210C>T	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		chr10.hg19:g.97916210C>T		0									1	2	3	2.008551	Q6AHZ1	Z518A_HUMAN		0	988	+		Colorectal(252;0.0815)	A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_014803			41	39		164	161	0		1	1		0	0	47	0		1	8.297499e-01	0	4	0	11	0	41	164
BLNK	29760	broad.mit.edu	37	10	97967627	97967627	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000413476.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328																																						ENST00000224337.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.e10+1		B-cell linker							119.0	116.0	117.0					10																	97967627		2203	4300	6503	SO:0001630	splice_region_variant	29760	0	0					g.chr10:97967627C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.774+1G>A	chr10.hg19:g.97967627C>T		0					BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000413476.2_Splice_Site		NM_013314.3	NP_037446.1	1	2	3	2.008551	Q8WV28	BLNK_HUMAN		10	916	-		Colorectal(252;0.083)	O75498|O75499|Q2MD49	Splice_Site	SNP	ENST00000224337.5	1	1	hg19		CCDS7446.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743713	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4791	0.75511	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	BLNK	97957617	97957617	0.998000	0.40836	0.973000	0.42090	0.936000	0.57629	3.494000	0.53273	2.809000	0.96659	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.340819	1	0.170000	NM_013314	Intron		63	63		280	274	1		1	1		0	0	69	0		1	9.129196e-02	0	3	0	0	0	63	280
DNTT	1791	broad.mit.edu	37	10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000371174.2	+	1	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	DNTT_ENST00000419175.1_Missense_Mutation_p.A24T|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	24					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577																																						ENST00000371174.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(70-72)Gcc>Acc		DNA nucleotidylexotransferase							49.0	55.0	53.0					10																	98064324		2203	4300	6503	SO:0001583	missense	1791	0	0					g.chr10:98064324G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.70G>A	chr10.hg19:g.98064324G>A	ENSP00000360216:p.Ala24Thr	0					DNTT_ENST00000419175.1_Missense_Mutation_p.A24T|RP11-35J23.1_ENST00000454484.2_RNA	p.A24T			1	2	3	2.008551	P04053	TDT_HUMAN		1	172	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	1	1	hg19	c.70G>A	CCDS7447.1	1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408741	0.25378	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	0.955	0.19602	5.76	0.955	0.19602	.	0.981743	0.08379	N	0.954821	T	0.11024	0.0269	M	0.66939	2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40117	-0.9580	10	0.25106	T	0.35	-4.0979	2.978	0.05943	0.0949:0.13:0.2973:0.4778	.	24;24	P04053-2;P04053	.;TDT_HUMAN	T	24	ENSP00000401169:A24T;ENSP00000360216:A24T	ENSP00000360216:A24T	A	+	1	0	0	DNTT	98054314	98054314	0.005000	0.15991	0.048000	0.18961	0.138000	0.21146	0.775000	0.26689	0.688000	0.31529	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_004088			68	68		286	284	1		1			0	0	61	0		1	0	0	0	0	0	0	68	286
DNTT	1791	broad.mit.edu	37	10	98064345	98064345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064345A>G	ENST00000371174.2	+	1	193	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	DNTT_ENST00000419175.1_Missense_Mutation_p.K31E|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	31	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAAGACATCAAATTTCAAGA	0.557																																						ENST00000371174.2	1.000000	0.100000	4.100000e-01	1.600000e-01	0.250000	0.323433	0.250000	0.230000																										0				27						c.(91-93)Aaa>Gaa		DNA nucleotidylexotransferase							45.0	51.0	49.0					10																	98064345		2203	4300	6503	SO:0001583	missense	1791	0	0					g.chr10:98064345A>G	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.91A>G	chr10.hg19:g.98064345A>G	ENSP00000360216:p.Lys31Glu	0					DNTT_ENST00000419175.1_Missense_Mutation_p.K31E|RP11-35J23.1_ENST00000454484.2_RNA	p.K31E			1	2	3	2.008551	P04053	TDT_HUMAN		1	193	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	0	1	hg19	c.91A>G	CCDS7447.1	0	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701265	0.68501	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.79454	-1.27;-1.27	5.76	3.36	0.38483	5.76	3.36	0.38483	BRCT (3);	0.154687	0.53938	D	0.000041	D	0.82995	0.5158	M	0.76328	2.33	0.33866	D	0.634366	P;P	0.35944	0.473;0.529	P;P	0.49528	0.48;0.614	D	0.86221	0.1631	10	0.56958	D	0.05	-11.3577	11.2234	0.48869	0.7369:0.2631:0.0:0.0	.	31;31	P04053-2;P04053	.;TDT_HUMAN	E	31	ENSP00000401169:K31E;ENSP00000360216:K31E	ENSP00000360216:K31E	K	+	1	0	0	DNTT	98054335	98054335	1.000000	0.71417	0.835000	0.33067	0.673000	0.39480	2.387000	0.44389	0.422000	0.26005	0.533000	0.62120	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	0	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-7.440831	1	0.170000	NM_004088			6	6		302	296	0		1			0	0	60	0		9.631965e-01	0	0	0	0	0	0	6	302
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000371172.3	-	6	779	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T	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	125						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517																																						ENST00000371172.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.M115T(1)|p.M125T(1)	lung(2)	9						c.(373-375)aTg>aCg		oligodendrocytic myelin paranodal and inner loop protein							168.0	146.0	153.0					10																	98105750		2203	4300	6503	SO:0001583	missense	93377	0	0					g.chr10:98105750A>G	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.374T>C	chr10.hg19:g.98105750A>G	ENSP00000360214:p.Met125Thr	0					OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T|OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T	p.M125T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	1	2	3	2.008551	Q96PE5	OPALI_HUMAN		6	779	-			A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	1	1	hg19	c.374T>C	CCDS7448.1	1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276167	0.23307	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	0.291	0.15732	4.12	0.291	0.15732	.	0.846034	0.10440	N	0.674364	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27732	0.187;0.11;0.001	B;B;B	0.22601	0.04;0.04;0.001	T	0.24512	-1.0158	9	0.72032	D	0.01	-1.154	3.7161	0.08438	0.6011:0.1903:0.2086:0.0	.	102;125;115	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	125;102;115;114;115	.	ENSP00000360214:M125T	M	-	2	0	0	OPALIN	98095740	98095740	0.009000	0.17119	0.089000	0.20774	0.896000	0.52359	-0.209000	0.09358	-0.045000	0.13468	0.528000	0.53228	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_033207			137	135		520	513	1		1			0	0	136	0		1	0	0	0	0	0	0	137	520
TLL2	7093	broad.mit.edu	37	10	98182405	98182405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98182405C>T	ENST00000357947.3	-	6	943	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	240	Metalloprotease. {ECO:0000250}.				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)			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)		TCGTGAGCCACAATGCCAAAC	0.547																																						ENST00000357947.3	1.000000	0.260000	6.400000e-01	3.500000e-01	0.470000	0.514146	0.470000	0.440000																										0				58						c.(718-720)Gtg>Atg		tolloid-like 2							185.0	142.0	157.0					10																	98182405		2203	4300	6503	SO:0001583	missense	7093	1	121412	31				g.chr10:98182405C>T	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.718G>A	chr10.hg19:g.98182405C>T	ENSP00000350630:p.Val240Met	0					TLL2_ENST00000469598.1_5'UTR	p.V240M	NM_012465.3	NP_036597.1	1	2	3	2.008551	Q9Y6L7	TLL2_HUMAN		6	943	-		Colorectal(252;0.0846)	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	1	1	hg19	c.718G>A	CCDS7449.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.286272	0.95517	.	.	ENSG00000095587	ENST00000357947	T	0.68331	-0.32	5.64	5.64	0.86602	5.64	5.64	0.86602	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	D	0.000949	D	0.85159	0.5633	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86596	0.1863	10	0.54805	T	0.06	.	18.6895	0.91578	0.0:1.0:0.0:0.0	.	240	Q9Y6L7	TLL2_HUMAN	M	240	ENSP00000350630:V240M	ENSP00000350630:V240M	V	-	1	0	0	TLL2	98172395	98172395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.768000	0.85345	2.657000	0.90304	0.655000	0.94253	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	0	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-15.070540	1	0.170000				15	15		381	365	0		1	0		0	0	59	0		9.998332e-01	9.671288e-03	0	0	0	4	0	15	381
TLL2	7093	broad.mit.edu	37	10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A	rs566307721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease. {ECO:0000250}.				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)			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)		TTCCTCATCCGTCCTTTCTAT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.001					ENST00000357947.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				58						c.(595-597)aCg>aTg		tolloid-like 2							139.0	115.0	123.0					10																	98188430		2203	4300	6503	SO:0001583	missense	7093	5	121412	39				g.chr10:98188430G>A	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.596C>T	chr10.hg19:g.98188430G>A	ENSP00000350630:p.Thr199Met	0					TLL2_ENST00000469598.1_5'UTR	p.T199M	NM_012465.3	NP_036597.1	1	2	3	2.008551	Q9Y6L7	TLL2_HUMAN		5	821	-		Colorectal(252;0.0846)	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	1	1	hg19	c.596C>T	CCDS7449.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148195	0.78001	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	5.67	5.67	0.87782	5.67	5.67	0.87782	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45126	D	0.000396	T	0.70666	0.3250	M	0.79343	2.45	0.80722	D	1	P	0.49358	0.923	P	0.45881	0.496	T	0.75587	-0.3266	10	0.66056	D	0.02	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	199	Q9Y6L7	TLL2_HUMAN	M	199	ENSP00000350630:T199M	ENSP00000350630:T199M	T	-	2	0	0	TLL2	98178420	98178420	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.856000	0.86956	2.676000	0.91093	0.650000	0.86243	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-19.999980	1	0.170000				54	51		316	310	1		1	1		0	0	63	0		1	4.461406e-01	0	4	0	6	0	54	316
TM9SF3	56889	broad.mit.edu	37	10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	134						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TAAATCATCTATGTACATCTG	0.308																																						ENST00000371142.4	1.000000	0.400000	8.200000e-01	5.100000e-01	0.630000	0.666964	0.630000	0.610000																										0				15						c.(400-402)aTa>aCa		transmembrane 9 superfamily member 3							154.0	156.0	155.0					10																	98325081		2202	4296	6498	SO:0001583	missense	56889	0	0					g.chr10:98325081A>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.401T>C	chr10.hg19:g.98325081A>G	ENSP00000360184:p.Ile134Thr	0						p.I134T	NM_020123.3	NP_064508.3	1	2	3	2.008551	Q9HD45	TM9S3_HUMAN		3	617	-		Colorectal(252;0.158)	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	1	1	hg19	c.401T>C	CCDS7450.1	0	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605645	0.87157	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.93978	3.48	0.80722	D	1	D	0.53462	0.96	P	0.57244	0.816	T	0.80957	-0.1150	10	0.72032	D	0.01	-19.9242	15.3	0.73940	1.0:0.0:0.0:0.0	.	134	Q9HD45	TM9S3_HUMAN	T	134;90	ENSP00000360184:I134T;ENSP00000401152:I90T	ENSP00000360184:I134T	I	-	2	0	0	TM9SF3	98315071	98315071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.921000	0.92784	2.201000	0.70794	0.460000	0.39030	ATA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-19.999790	1	0.170000	NM_020123			22	22		399	393	0		1	1		0	0	123	0		9.999986e-01	1	0	54	0	589	0	22	399
PIK3AP1	118788	broad.mit.edu	37	10	98376418	98376418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	PIK3AP1_ENST00000371109.3_Silent_p.K263K|RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	664					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)			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)		CTGATTTTTGCTTCTCTCTCT	0.433																																						ENST00000339364.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1990-1992)aaG>aaA		phosphoinositide-3-kinase adaptor protein 1							442.0	347.0	380.0					10																	98376418		2203	4300	6503	SO:0001819	synonymous_variant	118788	1	121412	26				g.chr10:98376418C>T	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.1992G>A	chr10.hg19:g.98376418C>T		0					RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	p.K664K	NM_152309.2	NP_689522.2	1	2	3	2.008551	Q6ZUJ8	BCAP_HUMAN		13	2111	-		Colorectal(252;0.0442)	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	1	1	hg19	c.1992G>A	CCDS31259.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_152309			115	114		603	597	0		1	1		0	0	96	0		1	1	0	80	0	255	0	115	603
PIK3AP1	118788	broad.mit.edu	37	10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	417					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)			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)		CTCGTACACAGCATCAGCCTC	0.552																																						ENST00000339364.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1249-1251)gCt>gAt		phosphoinositide-3-kinase adaptor protein 1							187.0	146.0	160.0					10																	98405355		2203	4300	6503	SO:0001583	missense	118788	0	0					g.chr10:98405355G>T	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.1250C>A	chr10.hg19:g.98405355G>T	ENSP00000339826:p.Ala417Asp	0					PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	p.A417D	NM_152309.2	NP_689522.2	1	2	3	2.008551	Q6ZUJ8	BCAP_HUMAN		8	1369	-		Colorectal(252;0.0442)	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	1	1	hg19	c.1250C>A	CCDS31259.1	1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679631	0.00751	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.15372	3.1;2.43	5.81	1.62	0.23740	5.81	1.62	0.23740	.	0.570773	0.20462	N	0.091861	T	0.06917	0.0176	N	0.04508	-0.205	0.18873	N	0.999987	B	0.06786	0.001	B	0.09377	0.004	T	0.39251	-0.9623	10	0.02654	T	1	-1.1317	14.6981	0.69136	0.0:0.0:0.4863:0.5137	.	417	Q6ZUJ8	BCAP_HUMAN	D	417;239	ENSP00000339826:A417D;ENSP00000360151:A239D	ENSP00000339826:A417D	A	-	2	0	0	PIK3AP1	98395345	98395345	0.137000	0.22531	0.004000	0.12327	0.275000	0.26752	2.701000	0.47094	0.025000	0.15241	-0.169000	0.13324	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	1	0	1		2	12	2	1		1	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_152309			59	59		310	304	1		1	1		1	0	91	0		1	9.999995e-01	0	64	0	201	0	59	310
C10orf12	26148	broad.mit.edu	37	10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393																																						ENST00000286067.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999039	0.990000	1.000000																										0				45						c.(13-15)gCt>gAt		chromosome 10 open reading frame 12							69.0	67.0	68.0					10																	98741161		2203	4300	6503	SO:0001583	missense	26148	0	0					g.chr10:98741161C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.14C>A	chr10.hg19:g.98741161C>A	ENSP00000286067:p.Ala5Asp	0						p.A5D	NM_015652.2	NP_056467.2	1	2	3	2.008551	Q8N655	CJ012_HUMAN		1	121	+		Colorectal(252;0.172)	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	1	1	hg19	c.14C>A	CCDS7452.1	1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008834	0.35415	.	.	ENSG00000155640	ENST00000286067	T	0.16196	2.36	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.44097	D	0.000497	T	0.29850	0.0746	L	0.34521	1.04	0.35268	D	0.780209	D	0.76494	0.999	D	0.68192	0.956	T	0.22521	-1.0214	10	0.72032	D	0.01	-5.4603	13.3765	0.60741	0.0:0.9282:0.0:0.0718	.	5	Q8N655	CJ012_HUMAN	D	5	ENSP00000286067:A5D	ENSP00000286067:A5D	A	+	2	0	0	C10orf12	98731151	98731151	0.993000	0.37304	0.994000	0.49952	0.065000	0.16274	2.805000	0.47939	2.775000	0.95449	0.591000	0.81541	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_015652			35	32		255	252	1		1	0		0	0	53	0		1	7.811230e-02	0	0	0	4	0	35	255
C10orf12	26148	broad.mit.edu	37	10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493																																						ENST00000286067.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(712-714)aTt>aGt		chromosome 10 open reading frame 12							96.0	96.0	96.0					10																	98741860		2203	4300	6503	SO:0001583	missense	26148	0	0					g.chr10:98741860T>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.713T>G	chr10.hg19:g.98741860T>G	ENSP00000286067:p.Ile238Ser	0						p.I238S	NM_015652.2	NP_056467.2	1	2	3	2.008551	Q8N655	CJ012_HUMAN		1	820	+		Colorectal(252;0.172)	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	1	1	hg19	c.713T>G	CCDS7452.1	1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.512042	0.04200	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	6.05	1.03	0.20045	6.05	1.03	0.20045	.	1.722310	0.03331	N	0.193415	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21708	0.022;0.036	T	0.36648	-0.9739	10	0.62326	D	0.03	0.665	5.4761	0.16695	0.0:0.2189:0.1337:0.6474	.	72;238	A0PJI9;Q8N655	.;CJ012_HUMAN	S	238;72	ENSP00000286067:I238S	ENSP00000286067:I238S	I	+	2	0	0	C10orf12	98731850	98731850	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.066000	0.12998	-0.274000	0.10170	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_015652			96	95		403	397	1		1	1		0	0	113	0		1	4.051899e-01	0	3	0	4	0	96	403
C10orf12	26148	broad.mit.edu	37	10	98744054	98744054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483																																						ENST00000286067.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2905-2907)ggC>ggT		chromosome 10 open reading frame 12							77.0	85.0	82.0					10																	98744054		2203	4298	6501	SO:0001819	synonymous_variant	26148	0	0					g.chr10:98744054C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2907C>T	chr10.hg19:g.98744054C>T		0						p.G969G	NM_015652.2	NP_056467.2	1	2	3	2.008551	Q8N655	CJ012_HUMAN		1	3014	+		Colorectal(252;0.172)	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	1	1	hg19	c.2907C>T	CCDS7452.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_015652			112	110		535	527	1		1	1		0	0	134	0		1	5.387353e-01	0	2	0	8	0	112	535
SLIT1	6585	broad.mit.edu	37	10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T	rs369124797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				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)			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)		CCGCTTCAGCCGAAGGCCCTG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17661	0.0		0.0	False		,,,				2504	0.0					ENST00000266058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(4504-4506)cGg>cAg		slit homolog 1 (Drosophila)		C	GLN/ARG	0,4406		0,0,2203	71.0	77.0	75.0		4505	4.8	1.0	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT1	NM_003061.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1502/1535	98760969	1,13005	2203	4300	6503	SO:0001583	missense	6585	2	121404	38				g.chr10:98760969C>T	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.4505G>A	chr10.hg19:g.98760969C>T	ENSP00000266058:p.Arg1502Gln	0					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	p.R1502Q	NM_003061.2	NP_003052.2	1	2	3	2.008551	O75093	SLIT1_HUMAN		37	4750	-		Colorectal(252;0.162)	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	1	1	hg19	c.4505G>A	CCDS7453.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689858|4.689858	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|D	0.80824|0.82081	-1.42|-1.57	4.82|4.82	4.82|4.82	0.62117|0.62117	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Cystine knot, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90041|0.90041	0.6890|0.6890	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.89950|0.89950	0.4079|0.4079	7|10	0.87932|0.48119	D|T	0|0.1	.|.	18.0843|18.0843	0.89453|0.89453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502	.|O75093	.|SLIT1_HUMAN	S|Q	1461|1502	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	G|R	-|-	1|2	0|0	0|0	SLIT1|SLIT1	98750959|98750959	98750959|98750959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.809000|5.809000	0.69172|0.69172	2.498000|2.498000	0.84270|0.84270	0.561000|0.561000	0.74099|0.74099	GGC|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-3.043778	1	0.170000	NM_003061			159	158		695	689	1		1	0		0	0	149	0		1	1.614229e-01	0	0	0	4	0	159	695
SLIT1	6585	broad.mit.edu	37	10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	484	LRRCT 2.				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)			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)		GCACCGGAACTTCTTGCTCTT	0.652																																						ENST00000266058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1450-1452)aAg>aCg		slit homolog 1 (Drosophila)							110.0	91.0	97.0					10																	98808726		2203	4300	6503	SO:0001583	missense	6585	0	0					g.chr10:98808726T>G	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.1451A>C	chr10.hg19:g.98808726T>G	ENSP00000266058:p.Lys484Thr	0					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T	p.K484T	NM_003061.2	NP_003052.2	1	2	3	2.008551	O75093	SLIT1_HUMAN		14	1696	-		Colorectal(252;0.162)	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	1	1	hg19	c.1451A>C	CCDS7453.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628289	0.87560	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81739	-1.53;-1.52;0.71	5.14	5.14	0.70334	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.941;0.995	D	0.88106	0.2822	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	494;484	E7EWQ8;O75093	.;SLIT1_HUMAN	T	484;494;484;477	ENSP00000266058:K484T;ENSP00000360109:K484T;ENSP00000315005:K477T	ENSP00000266058:K484T	K	-	2	0	0	SLIT1	98798716	98798716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_003061			112	110		520	509	1		1	0		0	0	90	0		1	3.199781e-02	0	1	0	1	0	112	520
SLIT1	6585	broad.mit.edu	37	10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	411					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)			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)		TCATACAGGGAGAGCAGTGAG	0.582																																						ENST00000266058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1231-1233)Tcc>Ccc		slit homolog 1 (Drosophila)							169.0	166.0	167.0					10																	98816148		2203	4300	6503	SO:0001583	missense	6585	0	0					g.chr10:98816148A>G	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.1231T>C	chr10.hg19:g.98816148A>G	ENSP00000266058:p.Ser411Pro	0					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P	p.S411P	NM_003061.2	NP_003052.2	1	2	3	2.008551	O75093	SLIT1_HUMAN		13	1476	-		Colorectal(252;0.162)	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	1	1	hg19	c.1231T>C	CCDS7453.1	1	.	.	.	.	.	.	.	.	.	.	a	28.3	4.904775	0.92035	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.54279	1.76;1.76;0.58	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.057785	0.64402	D	0.000001	T	0.76615	0.4012	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82024	-0.0662	10	0.87932	D	0	.	15.0201	0.71624	1.0:0.0:0.0:0.0	.	421;411	E7EWQ8;O75093	.;SLIT1_HUMAN	P	411;421;411;404	ENSP00000266058:S411P;ENSP00000360109:S411P;ENSP00000315005:S404P	ENSP00000266058:S411P	S	-	1	0	0	SLIT1	98806138	98806138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.129000	0.65627	0.454000	0.30748	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_003061			127	127		640	625	1		1			0	0	146	0		1	0	0	0	0	0	0	127	640
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				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)			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)		TGAAGAGCCCGATGGTTGGCC	0.647																																						ENST00000266058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(706-708)atC>atT		slit homolog 1 (Drosophila)							23.0	24.0	24.0					10																	98823297		2203	4300	6503	SO:0001819	synonymous_variant	6585	0	0					g.chr10:98823297G>A	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.708C>T	chr10.hg19:g.98823297G>A		0					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I	p.I236I	NM_003061.2	NP_003052.2	1	2	3	2.008551	O75093	SLIT1_HUMAN		8	953	-		Colorectal(252;0.162)	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	1	1	hg19	c.708C>T	CCDS7453.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_003061			31	31		121	116	1		1	0		0	0	25	0		1	0	0	0	0	1	0	31	121
ARHGAP19	84986	broad.mit.edu	37	10	98989630	98989630	+	Splice_Site	SNP	C	C	T	rs368334954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	ENST00000358531.4	-	10	1314	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	429					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)			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)		CAGGACCTTCCGCTGATTTAA	0.383																																						ENST00000358531.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1285-1287)cGg>cAg		Rho GTPase activating protein 19		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94.0	95.0	95.0		1199,1286	4.6	1.0	10		95	1,8599		0,1,4299	no	missense-near-splice,missense-near-splice	ARHGAP19	NM_001204300.1,NM_032900.5	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/466,429/495	98989630	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	84986	2	121410	37				g.chr10:98989630C>T	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.1285-1G>A	chr10.hg19:g.98989630C>T		0					ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q|ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q	p.R429Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	1	2	3	2.008551	Q14CB8	RHG19_HUMAN		10	1314	-		Colorectal(252;0.0854)	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	SNP	ENST00000358531.4	1	0	hg19	c.1286G>A	CCDS7454.2	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592825	0.86953	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.16897	2.65;2.69;2.72;2.69;2.72;2.31	5.46	4.55	0.56014	5.46	4.55	0.56014	.	0.000000	0.64402	U	0.000001	T	0.30696	0.0773	M	0.64997	1.995	0.43857	D	0.996459	D;D;D	0.76494	0.994;0.995;0.999	P;P;P	0.57152	0.653;0.56;0.814	T	0.03514	-1.1029	10	0.72032	D	0.01	-1.2313	9.9455	0.41607	0.0:0.9063:0.0:0.0937	.	400;429;420	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	429;429;420;429;420;248;400	ENSP00000414774:R429Q;ENSP00000324468:R429Q;ENSP00000347526:R420Q;ENSP00000351333:R429Q;ENSP00000360066:R420Q;ENSP00000351058:R400Q	ENSP00000324468:R429Q	R	-	2	0	0	ARHGAP19	98979620	98979620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.373000	0.44266	1.288000	0.44600	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-2.630564	1	0.170000	NM_032900	Missense_Mutation		82	81		393	387	0		1	0		0	0	73	0		1	7.590210e-01	0	1	0	14	0	82	393
PGAM1	5223	broad.mit.edu	37	10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	rs138208659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0					ENST00000334828.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(418-420)cGc>cAc		phosphoglycerate mutase 1 (brain)							104.0	104.0	104.0					10																	99190716		2203	4300	6503	SO:0001583	missense	5223	0	0					g.chr10:99190716G>A	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.419G>A	chr10.hg19:g.99190716G>A	ENSP00000359991:p.Arg140His	0					PGAM1_ENST00000467867.1_3'UTR	p.R140H	NM_002629.2	NP_002620.1	1	2	3	2.008551	P18669	PGAM1_HUMAN		3	567	+		Colorectal(252;0.162)	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	1	1	hg19	c.419G>A	CCDS7458.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.44	2.535006	0.45073	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80214	-1.35	5.13	5.13	0.70059	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.78637	2.42	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.003	T	0.80476	-0.1366	10	0.62326	D	0.03	-0.6606	18.928	0.92553	0.0:0.0:1.0:0.0	.	125;140	B4DKL5;P18669	.;PGAM1_HUMAN	H	140;30	ENSP00000359991:R140H	ENSP00000359991:R140H	R	+	2	0	0	PGAM1	99180706	99180706	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	9.622000	0.98378	2.549000	0.85964	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	1	0	1		2	2	2	0		0	0	58		58	62	1	2.060000	-3.240601	1	0.170000	NM_002629			51	50		266	260	1		1	1		0	0	58	0		1	1	0	122	0	1110	0	51	266
MMS19	64210	broad.mit.edu	37	10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000355839.6_Intron|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000327277.7_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	188					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		19717	0.0		0.0	False		,,,				2504	0.001					ENST00000438925.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(562-564)Cgt>Tgt	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	100.0	105.0		562	5.6	1.0	10	dbSNP_134	105	0,8600		0,0,4300	no	missense	MMS19	NM_022362.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/1031	99236652	1,13005	2203	4300	6503	SO:0001583	missense	64210	29	121412	47				g.chr10:99236652G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.562C>T	chr10.hg19:g.99236652G>A	ENSP00000412698:p.Arg188Cys	0					MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C	p.R188C	NM_022362.4	NP_071757.4	1	2	3	2.008551	Q96T76	MMS19_HUMAN		7	897	-		Colorectal(252;0.0846)	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	1	1	hg19	c.562C>T	CCDS7464.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.430733	0.96150	2.27E-4	0.0	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75777	-0.3198	10	0.87932	D	0	.	19.4839	0.95022	0.0:0.0:1.0:0.0	.	188;188	Q96T76-5;Q96T76	.;MMS19_HUMAN	C	188;188;188;167;188;227	ENSP00000412698:R188C;ENSP00000359818:R188C;ENSP00000320059:R188C;ENSP00000409425:R188C;ENSP00000391765:R227C	ENSP00000320059:R188C	R	-	1	0	0	MMS19	99226642	99226642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.423000	0.73361	2.611000	0.88343	0.650000	0.86243	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-2.455778	0	0.170000				58	57		247	241	1		1	1		0	0	84	0		1	9.999028e-01	0	13	0	48	0	58	247
UBTD1	80019	broad.mit.edu	37	10	99327681	99327681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617																																					Pancreas(100;169 2668 32720)	ENST00000370664.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(79-81)gaG>gaA		ubiquitin domain containing 1							60.0	47.0	51.0					10																	99327681		2203	4300	6503	SO:0001819	synonymous_variant	80019	0	0					g.chr10:99327681G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.81G>A	chr10.hg19:g.99327681G>A		0						p.E27E	NM_024954.3	NP_079230.1	1	2	3	2.008551	Q9HAC8	UBTD1_HUMAN		2	417	+		Colorectal(252;0.162)	D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	1	1	hg19	c.81G>A	CCDS7465.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_024954			61	61		268	262	0		1	1		0	0	52	0		1	9.989937e-01	0	7	0	41	0	61	268
UBTD1	80019	broad.mit.edu	37	10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	202	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627																																					Pancreas(100;169 2668 32720)	ENST00000370664.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(604-606)Aca>Gca		ubiquitin domain containing 1							47.0	45.0	46.0					10																	99330200		2203	4300	6503	SO:0001583	missense	80019	0	0					g.chr10:99330200A>G	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.604A>G	chr10.hg19:g.99330200A>G	ENSP00000359698:p.Thr202Ala	0					ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	p.T202A	NM_024954.3	NP_079230.1	1	2	3	2.008551	Q9HAC8	UBTD1_HUMAN		3	940	+		Colorectal(252;0.162)	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	1	1	hg19	c.604A>G	CCDS7465.1	1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692848	0.30052	.	.	ENSG00000165886	ENST00000370664	T	0.74421	-0.84	5.73	5.73	0.89815	5.73	5.73	0.89815	Ubiquitin supergroup (1);Ubiquitin (2);	0.143055	0.64402	D	0.000006	T	0.70456	0.3226	L	0.42245	1.32	0.38786	D	0.954884	P	0.44986	0.847	P	0.46510	0.519	T	0.68262	-0.5455	10	0.08381	T	0.77	-5.7565	16.0082	0.80377	1.0:0.0:0.0:0.0	.	202	Q9HAC8	UBTD1_HUMAN	A	202	ENSP00000359698:T202A	ENSP00000359698:T202A	T	+	1	0	0	UBTD1	99320190	99320190	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	7.576000	0.82467	2.324000	0.78689	0.533000	0.62120	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_024954			70	69		313	309	1		1	1		0	0	68	0		1	9.999997e-01	0	18	0	82	0	70	313
PI4K2A	55361	broad.mit.edu	37	10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388																																						ENST00000370631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(925-927)Cga>Tga		phosphatidylinositol 4-kinase type 2 alpha							141.0	131.0	134.0					10																	99422666		2203	4300	6503	SO:0001587	stop_gained	55361	0	0					g.chr10:99422666C>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.925C>T	chr10.hg19:g.99422666C>T	ENSP00000359665:p.Arg309*	0					PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*	p.R309*	NM_018425.2	NP_060895.1	1	2	3	2.008551	Q9BTU6	P4K2A_HUMAN		5	982	+		Colorectal(252;0.162)	D3DR59|Q9NSG8	Nonsense_Mutation	SNP	ENST00000370631.3	0	1	hg19	c.925C>T	CCDS7469.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.404835	0.98262	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.41	4.45	0.53987	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8168	13.9095	0.63857	0.2602:0.7398:0.0:0.0	.	.	.	.	X	279;309;279	.	ENSP00000359665:R309X	R	+	1	2	2	PI4K2A;RP11-548K23.11	99412656	99412656	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.043000	0.30316	2.700000	0.92200	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-3.235886	1	0.170000	NM_018425			66	64		339	335	1		1	0		0	0	122	0		1	9.999549e-01	0	0	0	77	0	66	339
PI4K2A	55361	broad.mit.edu	37	10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N|PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	435	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542																																						ENST00000370631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1303-1305)aaA>aaC		phosphatidylinositol 4-kinase type 2 alpha							105.0	98.0	101.0					10																	99433364		2203	4300	6503	SO:0001583	missense	55361	0	0					g.chr10:99433364A>C	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1305A>C	chr10.hg19:g.99433364A>C	ENSP00000359665:p.Lys435Asn	0					PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N|PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N	p.K435N	NM_018425.2	NP_060895.1	1	2	3	2.008551	Q9BTU6	P4K2A_HUMAN		9	1362	+		Colorectal(252;0.162)	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	1	1	hg19	c.1305A>C	CCDS7469.1	1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196353	0.58126	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.23	2.91	0.33838	5.23	2.91	0.33838	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.111374	0.64402	D	0.000011	D	0.83691	0.5309	M	0.76838	2.35	0.51012	D	0.999903	P;P;B	0.50617	0.937;0.937;0.169	P;P;B	0.59221	0.854;0.854;0.178	T	0.82438	-0.0457	10	0.72032	D	0.01	-8.1753	7.9555	0.30040	0.7768:0.0:0.2232:0.0	.	405;405;435	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	N	405;435;405	ENSP00000452243:K405N;ENSP00000359665:K435N;ENSP00000359683:K405N	ENSP00000359665:K435N	K	+	3	2	2	PI4K2A;RP11-548K23.11	99423354	99423354	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	0.455000	0.26910	0.533000	0.62120	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_018425			126	121		472	460	1		1	1		0	0	123	0		1	9.999993e-01	0	3	0	74	0	126	472
GOLGA7B	401647	broad.mit.edu	37	10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	123						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527																																						ENST00000370602.1	1.000000	0.440000	1	5.800000e-01	0.760000	0.769541	0.760000	1.000000																										0				5						c.(367-369)Gac>Tac		golgin A7 family, member B							93.0	79.0	84.0					10																	99624000		2203	4300	6503	SO:0001583	missense	401647	0	0					g.chr10:99624000G>T	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.367G>T	chr10.hg19:g.99624000G>T	ENSP00000359634:p.Asp123Tyr	0						p.D123Y	NM_001010917.2	NP_001010917.1	1	2	3	2.008551	Q2TAP0	GOG7B_HUMAN		4	432	+			Q5T4F5	Missense_Mutation	SNP	ENST00000370602.1	1	1	hg19	c.367G>T	CCDS31265.1	0	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363960	0.61513	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85953	0.1465	9	0.72032	D	0.01	-58.8523	17.9131	0.88940	0.0:0.0:1.0:0.0	.	123	Q2TAP0	GOG7B_HUMAN	Y	123	.	ENSP00000359634:D123Y	D	+	1	0	0	GOLGA7B	99613990	99613990	1.000000	0.71417	0.950000	0.38849	0.038000	0.13279	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.259150	1	0.170000	NM_001010917			16	16		243	238	0		1	0		0	0	55	0		9.999311e-01	2.320192e-01	0	1	0	13	0	16	243
CRTAC1	55118	broad.mit.edu	37	10	99667810	99667810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000298819.4_Silent_p.N270N|CRTAC1_ENST00000370591.2_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	270						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)		CATCGCCCCGGTTGTGGAAAA	0.627																																						ENST00000370597.3	1.000000	0.380000	9.100000e-01	5.000000e-01	0.670000	0.695748	0.670000	1.000000																										0				35						c.(808-810)aaC>aaT		cartilage acidic protein 1							87.0	67.0	74.0					10																	99667810		2203	4300	6503	SO:0001819	synonymous_variant	55118	0	0					g.chr10:99667810G>A	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.810C>T	chr10.hg19:g.99667810G>A		0					CRTAC1_ENST00000370591.2_Silent_p.N270N|CRTAC1_ENST00000298819.4_Silent_p.N270N	p.N270N	NM_018058.6	NP_060528.3	1	2	3	2.008551	Q9NQ79	CRAC1_HUMAN		6	1165	-		Colorectal(252;0.24)	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	1	1	hg19	c.810C>T	CCDS31266.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-16.815820	1	0.170000	NM_018058			14	14		244	241	0		1	0		0	0	39	0		9.997585e-01	3.100840e-02	0	1	0	4	0	14	244
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					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)			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)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2	1.000000	0.560000	9.700000e-01	6.700000e-01	0.790000	0.806392	0.790000	1.000000																										0				30						c.(499-501)Gac>Aac		cytochrome P450, family 2, subfamily E, polypeptide 1	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)						121.0	107.0	112.0					10																	135345639		2203	4300	6503	SO:0001583	missense	1571	0	0		Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	g.chr10:135345639G>A	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.499G>A	chr10.hg19:g.135345639G>A	ENSP00000440689:p.Asp167Asn	0					CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|AL161645.2_ENST00000599428.1_5'Flank	p.D167N			1	2	3	2.008551	P05181	CP2E1_HUMAN		6	771	+		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)	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	1	1	hg19	c.499G>A	CCDS7686.1	0	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	0	CYP2E1	135195629	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-8.260598	1	0.170000	NM_000773			37	36		525	516	0		1	0		0	0	133	0		1	7.653226e-02	0	1	0	6	0	37	525
SBF2	81846	broad.mit.edu	37	11	10051375	10051375	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)			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)		TTTCCAAGGAGACATTCAGGC	0.408																																						ENST00000256190.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(448-450)gtC>gtT		SET binding factor 2							205.0	205.0	205.0					11																	10051375		2201	4294	6495	SO:0001819	synonymous_variant	81846	0	0					g.chr11:10051375G>A	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.450C>T	chr11.hg19:g.10051375G>A		0					SBF2_ENST00000527019.1_5'UTR	p.V150V	NM_030962.3	NP_112224.1	1	2	3	1.993097	Q86WG5	MTMRD_HUMAN		5	587	-			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	1	1	hg19	c.450C>T	CCDS31427.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	1	0	1		2	2	2	0		0	0	317		317	314	1	2.060000	-20.000000	1	0.170000	NM_030962			242	235		1080	1053	1		1	1		0	0	317	0		1	9.986240e-01	0	5	0	40	0	242	1080
AP2A2	161	broad.mit.edu	37	11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	741					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)			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)		TGTTTATCTTTTATGGTAATA	0.423																																						ENST00000448903.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2221-2223)ttT>ttG		adaptor-related protein complex 2, alpha 2 subunit							216.0	212.0	213.0					11																	1006544		1875	4099	5974	SO:0001583	missense	161	0	0					g.chr11:1006544T>G	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.2223T>G	chr11.hg19:g.1006544T>G	ENSP00000413234:p.Phe741Leu	0					AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron	p.F741L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	1	2	3	1.993097	O94973	AP2A2_HUMAN		17	2364	+		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)	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	1	1	hg19	c.2223T>G	CCDS44512.1	1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867997	0.72065	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.35	-0.505	0.11993	4.35	-0.505	0.11993	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88241	2.94	0.58432	D	0.999999	D;D	0.63880	0.992;0.993	D;D	0.74348	0.971;0.983	T	0.62886	-0.6759	10	0.46703	T	0.11	-9.1951	9.2983	0.37829	0.0:0.5228:0.0:0.4772	.	742;741	O94973-2;O94973	.;AP2A2_HUMAN	L	741;742;478;481	ENSP00000413234:F741L;ENSP00000327694:F742L	ENSP00000327694:F742L	F	+	3	2	2	AP2A2	996544	996544	0.961000	0.32948	0.999000	0.59377	0.984000	0.73092	0.084000	0.14891	-0.004000	0.14419	0.523000	0.50628	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_012305			79	78		335	326	1		1	1		0	0	77	0		1	1	0	24	0	135	0	79	335
SBF2	81846	broad.mit.edu	37	11	10064430	10064430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	80	UDENN.				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)			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)		TTAGGCATGAGCAGTAATGTC	0.443																																						ENST00000256190.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(238-240)tgC>tgT		SET binding factor 2							146.0	122.0	130.0					11																	10064430		2201	4294	6495	SO:0001819	synonymous_variant	81846	0	0					g.chr11:10064430G>A	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.240C>T	chr11.hg19:g.10064430G>A		0					SBF2_ENST00000527019.1_5'UTR	p.C80C	NM_030962.3	NP_112224.1	1	2	3	1.993097	Q86WG5	MTMRD_HUMAN		3	377	-			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	1	1	hg19	c.240C>T	CCDS31427.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_030962			67	64		295	294	0		1	1		0	0	85	0		1	9.955782e-01	0	5	0	34	0	67	295
PGR	5241	broad.mit.edu	37	11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G	rs540664133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.Q556H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	556	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGAAGCTGTATTGTGGGCTCT	0.418																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1666-1668)caA>caC		progesterone receptor	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)						72.0	63.0	66.0					11																	100996859		2203	4300	6503	SO:0001583	missense	5241	0	0					g.chr11:100996859T>G	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1668A>C	chr11.hg19:g.100996859T>G	ENSP00000325120:p.Gln556His	0					PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	p.Q556H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	1	2	3	1.991067	P06401	PRGR_HUMAN		2	3121	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	1	1	hg19	c.1668A>C	CCDS8310.1	1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917796	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09817	2.94;2.94	5.55	2.2	0.27929	5.55	2.2	0.27929	.	0.108809	0.41001	D	0.000978	T	0.25606	0.0623	M	0.64404	1.975	0.30183	N	0.800201	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.958	T	0.03374	-1.1043	10	0.62326	D	0.03	.	9.024	0.36218	0.0:0.6891:0.0:0.3109	.	556;556	Q8TDS3;P06401	.;PRGR_HUMAN	H	556	ENSP00000325120:Q556H;ENSP00000263463:Q556H	ENSP00000263463:Q556H	Q	-	3	2	2	PGR	100502069	100502069	0.794000	0.28838	1.000000	0.80357	0.042000	0.13812	0.195000	0.17155	0.652000	0.30806	-0.248000	0.11899	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				42	41		129	129	1		1	0		0	0	39	0		1	4.609883e-01	0	0	0	6	0	42	129
PGR	5241	broad.mit.edu	37	11	100998653	100998653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P383P	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	383	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTTAGAGCGGGCGGCTGGA	0.682																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				36						c.(1147-1149)ccC>ccT		progesterone receptor	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)						14.0	18.0	16.0					11																	100998653		2044	4071	6115	SO:0001819	synonymous_variant	5241	5	119910	37				g.chr11:100998653G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1149C>T	chr11.hg19:g.100998653G>A		0					PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	p.P383P	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	1	2	3	1.991067	P06401	PRGR_HUMAN		1	2602	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	1	1	hg19	c.1149C>T	CCDS8310.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-2.993087	1	0.170000				36	35		192	190	0		1			0	0	29	0		1	0	0	0	0	0	0	36	192
PGR	5241	broad.mit.edu	37	11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.R319C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	319	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCCGAGTGCGGGCTGCCAAT	0.687																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(955-957)Cgc>Tgc		progesterone receptor	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)						12.0	15.0	14.0					11																	100998847		1853	3714	5567	SO:0001583	missense	5241	0	0					g.chr11:100998847G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.955C>T	chr11.hg19:g.100998847G>A	ENSP00000325120:p.Arg319Cys	0					PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	p.R319C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	1	2	3	1.991067	P06401	PRGR_HUMAN		1	2408	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	1	1	hg19	c.955C>T	CCDS8310.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214077	0.58452	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.18657	2.2;2.2	4.37	3.38	0.38709	4.37	3.38	0.38709	.	0.000000	0.40144	N	0.001167	T	0.45994	0.1370	M	0.82323	2.585	0.47819	D	0.999528	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.52132	-0.8616	10	0.87932	D	0	.	11.0039	0.47622	0.0:0.0:0.611:0.3889	.	319;319	Q8TDS3;P06401	.;PRGR_HUMAN	C	319	ENSP00000325120:R319C;ENSP00000263463:R319C	ENSP00000263463:R319C	R	-	1	0	0	PGR	100504057	100504057	0.993000	0.37304	1.000000	0.80357	0.746000	0.42486	1.562000	0.36353	1.962000	0.57031	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-3.459488	1	0.170000				38	37		171	162	0		1			0	0	24	0		1	0	0	0	0	0	0	38	171
PGR	5241	broad.mit.edu	37	11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A218V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	218	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACCTCCACCGCAGCGGCCTG	0.711																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(652-654)gCg>gTg		progesterone receptor	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)						10.0	13.0	12.0					11																	100999149		2147	4241	6388	SO:0001583	missense	5241	0	0					g.chr11:100999149G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.653C>T	chr11.hg19:g.100999149G>A	ENSP00000325120:p.Ala218Val	0					PGR_ENST00000263463.5_Missense_Mutation_p.A218V|PGR_ENST00000534013.1_Intron	p.A218V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	1	2	3	1.991067	P06401	PRGR_HUMAN		1	2106	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	1	1	hg19	c.653C>T	CCDS8310.1	1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585081	0.03827	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08008	3.14;3.14	3.72	-5.21	0.02815	3.72	-5.21	0.02815	.	2.543820	0.01540	N	0.019191	T	0.03827	0.0108	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.33445	-0.9868	10	0.02654	T	1	.	2.2323	0.04000	0.4059:0.1211:0.3515:0.1215	.	218;218	Q8TDS3;P06401	.;PRGR_HUMAN	V	218	ENSP00000325120:A218V;ENSP00000263463:A218V	ENSP00000263463:A218V	A	-	2	0	0	PGR	100504359	100504359	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.615000	0.05597	-0.747000	0.04759	-0.258000	0.10820	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				35	35		147	147	0		1			0	0	21	0		1	0	0	0	0	0	0	35	147
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					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)			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)		AAGGGTACAGGAAGTGTTCTG	0.438																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2281-2283)Cct>Tct		transient receptor potential cation channel, subfamily C, member 6							79.0	85.0	83.0					11																	101342042		2203	4298	6501	SO:0001583	missense	7225	1	121412	32				g.chr11:101342042G>A	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.2281C>T	chr11.hg19:g.101342042G>A	ENSP00000340913:p.Pro761Ser	0					TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S	p.P761S	NM_004621.5	NP_004612.2	1	2	3	1.991067	Q9Y210	TRPC6_HUMAN		9	2705	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	1	1	hg19	c.2281C>T	CCDS8311.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897437	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97184	0.9853	10	0.87932	D	0	-16.1746	19.7888	0.96450	0.0:0.0:1.0:0.0	.	706;645;761	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	761;683;645;706	ENSP00000340913:P761S;ENSP00000435574:P683S;ENSP00000343672:P645S;ENSP00000353687:P706S	ENSP00000340913:P761S	P	-	1	0	0	TRPC6	100847252	100847252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.864000	0.99589	2.662000	0.90505	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_004621			92	90		474	469	1		1	0		0	0	113	0		1	3.219903e-01	0	0	0	7	0	92	474
TRPC6	7225	broad.mit.edu	37	11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000344327.3	-	8	2541	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	706					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)			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)		TCCATAAAGAACGTAACCAAT	0.338																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2116-2118)gTt>gCt		transient receptor potential cation channel, subfamily C, member 6							88.0	89.0	88.0					11																	101342956		2203	4298	6501	SO:0001583	missense	7225	0	0					g.chr11:101342956A>G	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.2117T>C	chr11.hg19:g.101342956A>G	ENSP00000340913:p.Val706Ala	0					TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A	p.V706A	NM_004621.5	NP_004612.2	1	2	3	1.991067	Q9Y210	TRPC6_HUMAN		8	2541	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	1	1	hg19	c.2117T>C	CCDS8311.1	1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518349	0.44763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.81	5.81	0.92471	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.956	D;D;D	0.87578	0.998;0.995;0.927	D	0.99215	1.0877	10	0.33141	T	0.24	-6.7012	16.1667	0.81768	1.0:0.0:0.0:0.0	.	651;590;706	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	A	706;628;590;651	ENSP00000340913:V706A;ENSP00000435574:V628A;ENSP00000343672:V590A;ENSP00000353687:V651A	ENSP00000340913:V706A	V	-	2	0	0	TRPC6	100848166	100848166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.531000	0.81973	2.210000	0.71456	0.533000	0.62120	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_004621			58	57		313	311	1		1	0		0	0	113	0		1	6.787229e-02	0	0	0	3	0	58	313
TRPC6	7225	broad.mit.edu	37	11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000344327.3	-	5	1749	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	442					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)			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)		TGCTACAAACTTCATGAATGG	0.413																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999925	0.990000	1.000000																										0				55						c.(1324-1326)aAg>aCg		transient receptor potential cation channel, subfamily C, member 6							97.0	88.0	91.0					11																	101353865		2203	4299	6502	SO:0001583	missense	7225	0	0					g.chr11:101353865T>G	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.1325A>C	chr11.hg19:g.101353865T>G	ENSP00000340913:p.Lys442Thr	0					TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T	p.K442T	NM_004621.5	NP_004612.2	1	2	3	1.991067	Q9Y210	TRPC6_HUMAN		5	1749	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	1	1	hg19	c.1325A>C	CCDS8311.1	1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618452	0.66787	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.969;0.997	D	0.87137	0.2200	10	0.87932	D	0	-10.7074	15.6364	0.76958	0.0:0.0:0.0:1.0	.	387;326;442	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	442;442;326;387	ENSP00000340913:K442T;ENSP00000435574:K442T;ENSP00000343672:K326T;ENSP00000353687:K387T	ENSP00000340913:K442T	K	-	2	0	0	TRPC6	100859075	100859075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.089000	0.63090	0.482000	0.46254	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_004621			37	37		228	225	1		1	0		0	0	61	0		1	2.068399e-01	0	0	0	6	0	37	228
MUC6	4588	broad.mit.edu	37	11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2210	Ser-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)			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)		GGGGAGAGTGGCCCTAATGGT	0.552																																						ENST00000421673.2	1.000000	0.260000	7.900000e-01	3.900000e-01	0.560000	0.591829	0.560000	1.000000																										0				80						c.(6628-6630)gCc>gTc		mucin 6, oligomeric mucus/gel-forming							39.0	46.0	44.0					11																	1016172		2132	4227	6359	SO:0001583	missense	4588	0	0					g.chr11:1016172G>A	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.6629C>T	chr11.hg19:g.1016172G>A	ENSP00000406861:p.Ala2210Val	0						p.A2210V	NM_005961.2	NP_005952.2	1	2	3	1.993097	Q6W4X9	MUC6_HUMAN		31	6679	-		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)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	1	1	hg19	c.6629C>T	CCDS44513.1	0	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023623	0.19433	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	2.6	1.66	0.24008	2.6	1.66	0.24008	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.25759	0.063	T	0.25847	-1.0120	9	0.48119	T	0.1	.	7.7325	0.28796	0.1439:0.0:0.8561:0.0	.	2210	Q6W4X9	MUC6_HUMAN	V	2210	ENSP00000406861:A2210V	ENSP00000406861:A2210V	A	-	2	0	0	MUC6	1006172	1006172	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.771000	0.26633	0.372000	0.24591	0.448000	0.29417	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-10.788320	1	0.170000	XM_290540			8	8		169	163	0		1	0		0	0	37	0		9.883400e-01	3.549751e-01	0	0	0	24	0	8	169
TRPC6	7225	broad.mit.edu	37	11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000344327.3	-	2	1361	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	313					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)			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)		ACCTTGAACTCTTTCTCAATA	0.473																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(937-939)Gag>Aag		transient receptor potential cation channel, subfamily C, member 6							136.0	127.0	130.0					11																	101374763		2203	4299	6502	SO:0001583	missense	7225	0	0					g.chr11:101374763C>T	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.937G>A	chr11.hg19:g.101374763C>T	ENSP00000340913:p.Glu313Lys	0					TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K	p.E313K	NM_004621.5	NP_004612.2	1	2	3	1.991067	Q9Y210	TRPC6_HUMAN		2	1361	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	1	1	hg19	c.937G>A	CCDS8311.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036539	0.93630	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.7	5.7	0.88788	5.7	5.7	0.88788	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.90595	3.13	0.80722	D	1	D;D;D	0.55385	0.964;0.961;0.971	P;D;P	0.63381	0.742;0.914;0.832	D	0.95753	0.8793	10	0.87932	D	0	-0.7207	19.8405	0.96681	0.0:1.0:0.0:0.0	.	313;313;313	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	313	ENSP00000340913:E313K;ENSP00000435574:E313K;ENSP00000343672:E313K;ENSP00000353687:E313K	ENSP00000340913:E313K	E	-	1	0	0	TRPC6	100879973	100879973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1		2	2	2	0		0	0	177		177	177	1	2.060000	-20.000000	1	0.170000	NM_004621			116	115		547	536	1		1	0		0	0	177	0		1	4.235948e-01	0	0	0	8	0	116	547
C11orf70	85016	broad.mit.edu	37	11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294																																						ENST00000434758.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(649-651)tCt>tAt		chromosome 11 open reading frame 70							84.0	87.0	86.0					11																	101951987		2203	4295	6498	SO:0001583	missense	85016	0	0					g.chr11:101951987C>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.650C>A	chr11.hg19:g.101951987C>A	ENSP00000414390:p.Ser217Tyr	0					C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	p.S217Y	NM_032930.2	NP_116319.2	1	2	3	1.991067	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	6	678	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	1	1	hg19	c.650C>A	CCDS8313.2	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517777	0.85495	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.047893	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85111	0.0963	9	0.87932	D	0	-25.6465	18.8612	0.92273	0.0:1.0:0.0:0.0	.	217	Q9BRQ4	CK070_HUMAN	Y	217;217;179	.	ENSP00000392150:S179Y	S	+	2	0	0	C11orf70	101457197	101457197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.119000	0.71590	2.873000	0.98535	0.563000	0.77884	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.081515	1	0.170000	NM_032930			48	47		230	229	1		1	0		0	0	48	0		1	5.407001e-01	0	1	0	9	0	48	230
YAP1	10413	broad.mit.edu	37	11	102033283	102033283	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000282441.5	+	3	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	223					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGCAGCAGAATATGATGAACT	0.478																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(667-669)aaT>aaC		Yes-associated protein 1							162.0	152.0	155.0					11																	102033283		2203	4299	6502	SO:0001819	synonymous_variant	10413	0	0					g.chr11:102033283T>C		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.669T>C	chr11.hg19:g.102033283T>C		0					YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N	p.N223N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	1	2	3	1.991067	P46937	YAP1_HUMAN	Lung(13;0.245)	3	1057	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	1	1	hg19	c.669T>C	CCDS44716.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	0	0	1		2	2	2	0		0	0	212		212	210	1	2.060000	-20.000000	1	0.170000	NM_006106			180	178		714	695	1		1	1		0	0	212	0		1	1	0	51	0	199	0	180	714
BIRC2	329	broad.mit.edu	37	11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G	rs375296936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000227758.2	+	2	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	82					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)			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)		GACAAGGTCAAATGCTTCTGT	0.428																																						ENST00000227758.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(244-246)aAa>aGa		baculoviral IAP repeat containing 2		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	100.0	98.0	98.0		245	3.3	1.0	11		98	0,8598		0,0,4299	no	missense	BIRC2	NM_001166.3	26	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	82/619	102220830	1,13003	2203	4299	6502	SO:0001583	missense	329	8	121412	43				g.chr11:102220830A>G	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.245A>G	chr11.hg19:g.102220830A>G	ENSP00000227758:p.Lys82Arg	0					BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	p.K82R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	1	2	3	1.991067	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	2	1644	+	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)	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	1	1	hg19	c.245A>G	CCDS8316.1	1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.927061	0.52759	2.27E-4	0.0	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.65	3.35	0.38373	5.65	3.35	0.38373	Baculoviral inhibition of apoptosis protein repeat (5);	0.180898	0.64402	N	0.000010	T	0.57666	0.2069	N	0.17723	0.515	0.41648	D	0.989116	B	0.28350	0.208	B	0.36766	0.232	T	0.53968	-0.8363	10	0.46703	T	0.11	-4.2378	9.2562	0.37584	0.8532:0.0:0.1468:0.0	.	82	Q13490	BIRC2_HUMAN	R	33;82;82;61;61	ENSP00000431723:K33R;ENSP00000227758:K82R;ENSP00000434979:K61R;ENSP00000434708:K61R	ENSP00000227758:K82R	K	+	2	0	0	BIRC2	101726040	101726040	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.930000	0.48924	0.567000	0.29293	0.533000	0.62120	AAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001166			76	76		376	373	1		1	1		0	0	87	0		1	1	0	29	0	115	0	76	376
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1016	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		TACCTGCTGCGCGTCTCGAAG	0.642																																						ENST00000421673.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998622	0.990000	1.000000																										0				80						c.(3046-3048)Cgc>Tgc		mucin 6, oligomeric mucus/gel-forming							48.0	54.0	52.0					11																	1025023		2127	4221	6348	SO:0001583	missense	4588	1	121000	25				g.chr11:1025023G>A	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.3046C>T	chr11.hg19:g.1025023G>A	ENSP00000406861:p.Arg1016Cys	0						p.R1016C	NM_005961.2	NP_005952.2	1	2	3	1.993097	Q6W4X9	MUC6_HUMAN		24	3096	-		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)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	1	1	hg19	c.3046C>T	CCDS44513.1	1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717778	0.30413	.	.	ENSG00000184956	ENST00000421673	T	0.60797	0.16	3.78	3.78	0.43462	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80014	0.4546	M	0.90309	3.105	0.48830	D	0.999711	D	0.89917	1.0	D	0.87578	0.998	D	0.85651	0.1282	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1016	Q6W4X9	MUC6_HUMAN	C	1016	ENSP00000406861:R1016C	ENSP00000406861:R1016C	R	-	1	0	0	MUC6	1015023	1015023	0.994000	0.37717	0.080000	0.20451	0.096000	0.18686	2.318000	0.43779	2.124000	0.65301	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	XM_290540			26	26		178	176	1		1	0		0	0	27	0		9.999999e-01	4.824334e-02	0	0	0	3	0	26	178
MMP7	4316	broad.mit.edu	37	11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	209					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GCAGCATACAGGAAGTTAATC	0.343																																						ENST00000260227.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(625-627)Ctg>Atg		matrix metallopeptidase 7 (matrilysin, uterine)	Marimastat(DB00786)						94.0	87.0	89.0					11																	102394121		2203	4299	6502	SO:0001583	missense	4316	0	0					g.chr11:102394121G>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.625C>A	chr11.hg19:g.102394121G>T	ENSP00000260227:p.Leu209Met	0						p.L209M	NM_002423.3	NP_002414.1	1	2	3	1.991067	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	5	677	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	1	1	hg19	c.625C>A	CCDS8317.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877973	0.51801	.	.	ENSG00000137673	ENST00000260227	T	0.22539	1.95	5.23	1.88	0.25563	5.23	1.88	0.25563	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.722580	0.11909	N	0.517868	T	0.42944	0.1225	M	0.79475	2.455	0.09310	N	0.999992	D	0.89917	1.0	D	0.77004	0.989	T	0.12682	-1.0538	10	0.87932	D	0	-2.0711	6.7537	0.23501	0.4982:0.0:0.5018:0.0	.	209	P09237	MMP7_HUMAN	M	209	ENSP00000260227:L209M	ENSP00000260227:L209M	L	-	1	2	2	MMP7	101899331	101899331	.	.	0.384000	0.26145	0.945000	0.59286	.	.	0.609000	0.30018	0.557000	0.71058	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.095820	1	0.170000				68	67		262	258	1		1	1		0	0	79	0		1	1	0	1931	0	1641	0	68	262
MMP8	4317	broad.mit.edu	37	11	102584189	102584189	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102584189C>A	ENST00000236826.3	-	10	1393		c.e10-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						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)			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)	TGGAAGAAATCTATAAAAAAA	0.353																																						ENST00000236826.3	1.000000	0.240000	6.600000e-01	3.400000e-01	0.470000	0.508103	0.470000	0.450000																										0				32						c.e10-1		matrix metallopeptidase 8 (neutrophil collagenase)	Marimastat(DB00786)						78.0	71.0	73.0					11																	102584189		2203	4299	6502	SO:0001630	splice_region_variant	4317	0	0					g.chr11:102584189C>A	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.1295-1G>T	chr11.hg19:g.102584189C>A		0							NM_002424.2	NP_002415.1	1	2	3	1.991067	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	10	1393	-	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)	Q45F99	Splice_Site	SNP	ENST00000236826.3	0	1	hg19		CCDS8320.1	0	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005730	0.54254	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1124	0.72368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MMP8	102089399	102089399	0.988000	0.35896	0.065000	0.19835	0.338000	0.28826	3.448000	0.52943	2.622000	0.88805	0.563000	0.77884	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.298430	1	0.170000	NM_002424	Intron		10	9		249	246	0		1			0	0	51	0		9.967962e-01	0	0	0	0	0	0	10	249
MMP8	4317	broad.mit.edu	37	11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					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)			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)	AGCAGAAATGGAAGCGTCTTC	0.458																																						ENST00000236826.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(22-24)Cca>Tca		matrix metallopeptidase 8 (neutrophil collagenase)	Marimastat(DB00786)						165.0	175.0	171.0					11																	102595565		2203	4299	6502	SO:0001583	missense	4317	0	0					g.chr11:102595565G>A	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.22C>T	chr11.hg19:g.102595565G>A	ENSP00000236826:p.Pro8Ser	0						p.P8S	NM_002424.2	NP_002415.1	1	2	3	1.991067	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	1	120	-	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)	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	1	1	hg19	c.22C>T	CCDS8320.1	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702308	0.30232	.	.	ENSG00000118113	ENST00000236826	T	0.12361	2.69	5.26	0.871	0.19107	5.26	0.871	0.19107	.	1.388890	0.04912	N	0.453405	T	0.13543	0.0328	L	0.45352	1.415	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.42015	-0.9476	10	0.15499	T	0.54	.	11.4239	0.49998	0.0:0.5293:0.3352:0.1356	.	8	P22894	MMP8_HUMAN	S	8	ENSP00000236826:P8S	ENSP00000236826:P8S	P	-	1	0	0	MMP8	102100775	102100775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.023000	0.13963	-0.176000	0.13171	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	1	0	1		2	2	2	0		0	0	188		188	188	1	2.060000	-20.000000	1	0.170000	NM_002424			154	150		646	636	1		1			0	0	188	0		1	0	0	0	0	0	0	154	646
MMP10	4319	broad.mit.edu	37	11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	233					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)			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)	TACATCAAAGCTTCAGTGTTG	0.473																																						ENST00000279441.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(697-699)Gct>Tct		matrix metallopeptidase 10 (stromelysin 2)	Marimastat(DB00786)						136.0	127.0	130.0					11																	102647433		2203	4299	6502	SO:0001583	missense	4319	0	0					g.chr11:102647433C>A	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.697G>T	chr11.hg19:g.102647433C>A	ENSP00000279441:p.Ala233Ser	0						p.A233S	NM_002425.2	NP_002416.1	1	2	3	1.991067	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	5	733	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	1	1	hg19	c.697G>T	CCDS8321.1	1	.	.	.	.	.	.	.	.	.	.	c	19.51	3.841626	0.71488	.	.	ENSG00000166670	ENST00000279441	T	0.11930	2.73	4.31	2.35	0.29111	4.31	2.35	0.29111	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.283692	0.26627	N	0.023340	T	0.17874	0.0429	L	0.37507	1.11	0.48288	D	0.999629	B	0.33280	0.405	P	0.47827	0.558	T	0.05321	-1.0892	10	0.48119	T	0.1	.	8.7369	0.34534	0.1544:0.7654:0.0:0.0802	.	233	P09238	MMP10_HUMAN	S	233	ENSP00000279441:A233S	ENSP00000279441:A233S	A	-	1	0	0	MMP10	102152643	102152643	0.661000	0.27430	0.002000	0.10522	0.004000	0.04260	1.335000	0.33839	0.493000	0.27837	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				80	78		410	403	1		1	1		0	0	86	0		1	9.379967e-01	0	9	0	17	0	80	410
MUC6	4588	broad.mit.edu	37	11	1028027	1028027	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028027G>T	ENST00000421673.2	-	15	1836	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	596	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		CCTGTCCTCAGCAGCATGGAG	0.667																																						ENST00000421673.2	1.000000	0.740000	1	9.900000e-01	0.990000	0.982742	0.990000	1.000000																										0				80						c.(1786-1788)Ctg>Atg		mucin 6, oligomeric mucus/gel-forming							25.0	29.0	28.0					11																	1028027		2127	4240	6367	SO:0001583	missense	4588	0	0					g.chr11:1028027G>T	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.1786C>A	chr11.hg19:g.1028027G>T	ENSP00000406861:p.Leu596Met	0						p.L596M	NM_005961.2	NP_005952.2	1	2	3	1.993097	Q6W4X9	MUC6_HUMAN		15	1836	-		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)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	0	1	hg19	c.1786C>A	CCDS44513.1	1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471627	0.12461	.	.	ENSG00000184956	ENST00000421673	T	0.79141	-1.24	4.93	-0.193	0.13244	4.93	-0.193	0.13244	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	1.093900	0.07414	U	0.892955	T	0.63295	0.2499	N	0.20610	0.595	0.09310	N	1	B	0.24186	0.099	B	0.24848	0.056	T	0.51865	-0.8651	10	0.38643	T	0.18	.	8.676	0.34179	0.0:0.2892:0.5617:0.1491	.	596	Q6W4X9	MUC6_HUMAN	M	596	ENSP00000406861:L596M	ENSP00000406861:L596M	L	-	1	2	2	MUC6	1018027	1018027	0.000000	0.05858	0.876000	0.34364	0.019000	0.09904	-0.459000	0.06728	0.229000	0.21039	-0.325000	0.08501	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-14.246320	1	0.170000	XM_290540			7	7		42	42	0		1	0		0	0	8	0		9.832974e-01	6.869860e-02	0	0	0	3	0	7	42
MMP12	4321	broad.mit.edu	37	11	102733744	102733744	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102733744G>A	ENST00000532855.1	-	0	1595							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATATCTCTAAGTAGTGGTACA	0.264																																						ENST00000532855.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998098	0.990000	1.000000																										0				26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)																																					4321	0	0					g.chr11:102733744G>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			chr11.hg19:g.102733744G>A		0									1	2	3	1.991067	P39900	MMP12_HUMAN		0	1595	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	0	1	hg19			1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_002426			13	13		68	68	0		1	1		0	0	10	0		9.996864e-01	1	0	178	0	566	0	13	68
MUC6	4588	broad.mit.edu	37	11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	516	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		TGACATAGGCCTGGAAGATGG	0.627																																						ENST00000421673.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.991569	0.990000	1.000000																										0				80						c.(1546-1548)caG>caT		mucin 6, oligomeric mucus/gel-forming							36.0	41.0	40.0					11																	1028689		2089	4202	6291	SO:0001583	missense	4588	0	0					g.chr11:1028689C>A	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.1548G>T	chr11.hg19:g.1028689C>A	ENSP00000406861:p.Gln516His	0						p.Q516H	NM_005961.2	NP_005952.2	1	2	3	1.993097	Q6W4X9	MUC6_HUMAN		13	1598	-		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)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	0	1	hg19	c.1548G>T	CCDS44513.1	1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371993	0.24857	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	2.37	0.29283	4.34	2.37	0.29283	von Willebrand factor, type D domain (3);	0.000000	0.29987	U	0.010684	T	0.67192	0.2867	L	0.55743	1.74	0.30497	N	0.770732	D	0.89917	1.0	D	0.79784	0.993	T	0.65961	-0.6041	10	0.87932	D	0	.	9.1739	0.37100	0.0:0.8102:0.0:0.1898	.	516	Q6W4X9	MUC6_HUMAN	H	516	ENSP00000406861:Q516H	ENSP00000406861:Q516H	Q	-	3	2	2	MUC6	1018689	1018689	0.040000	0.19996	0.834000	0.33040	0.213000	0.24496	0.097000	0.15168	0.940000	0.37473	0.313000	0.20887	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.999490	1	0.170000	XM_290540			14	14		98	96	1		1			0	0	20	0		9.997960e-01	0	0	0	0	0	0	14	98
MUC6	4588	broad.mit.edu	37	11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	369					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)			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)		TGTGACCTCCCCGGGGGCATA	0.667																																						ENST00000421673.2	1.000000	0.500000	1	6.800000e-01	0.910000	0.867411	0.910000	1.000000																										0				80						c.(1105-1107)gGg>gTg		mucin 6, oligomeric mucus/gel-forming							37.0	44.0	42.0					11																	1029525		1959	4122	6081	SO:0001583	missense	4588	0	0					g.chr11:1029525C>A	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.1106G>T	chr11.hg19:g.1029525C>A	ENSP00000406861:p.Gly369Val	0						p.G369V	NM_005961.2	NP_005952.2	1	2	3	1.993097	Q6W4X9	MUC6_HUMAN		9	1156	-		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)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	1	1	hg19	c.1106G>T	CCDS44513.1	1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753864	0.69648	.	.	ENSG00000184956	ENST00000421673	T	0.74421	-0.84	3.84	2.92	0.33932	3.84	2.92	0.33932	.	0.000000	0.31257	U	0.007963	D	0.89051	0.6605	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90475	0.4456	10	0.87932	D	0	.	10.9721	0.47444	0.0:0.9048:0.0:0.0952	.	369	Q6W4X9	MUC6_HUMAN	V	369	ENSP00000406861:G369V	ENSP00000406861:G369V	G	-	2	0	0	MUC6	1019525	1019525	0.998000	0.40836	0.267000	0.24556	0.028000	0.11728	6.200000	0.72118	0.920000	0.36970	0.457000	0.33378	GGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-16.909380	1	0.170000	XM_290540			12	12		146	145	0		1	0		0	0	35	0		9.992047e-01	0	0	0	0	1	0	12	146
MMP13	4322	broad.mit.edu	37	11	102820881	102820881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102820881G>A	ENST00000260302.3	-	6	903	c.875C>T	c.(874-876)gCc>gTc	p.A292V	MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	292	Interaction with collagen.				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)			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)	ACTGGTAATGGCATCAAGGGA	0.443																																						ENST00000260302.3	1.000000	0.210000	4.300000e-01	2.700000e-01	0.340000	0.371469	0.340000	0.330000																										0				27						c.(874-876)gCc>gTc		matrix metallopeptidase 13 (collagenase 3)	Marimastat(DB00786)						318.0	289.0	299.0					11																	102820881		2202	4299	6501	SO:0001583	missense	4322	0	0					g.chr11:102820881G>A	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.875C>T	chr11.hg19:g.102820881G>A	ENSP00000260302:p.Ala292Val	0					MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	p.A292V	NM_002427.3	NP_002418.1	1	2	3	1.991067	P45452	MMP13_HUMAN		6	903	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	1	1	hg19	c.875C>T	CCDS8324.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.511149	0.96386	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.18810	2.19;2.19	5.77	5.77	0.91146	5.77	5.77	0.91146	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73445	-0.3980	10	0.87932	D	0	.	19.5952	0.95535	0.0:0.0:1.0:0.0	.	292	P45452	MMP13_HUMAN	V	292	ENSP00000260302:A292V;ENSP00000339672:A292V	ENSP00000260302:A292V	A	-	2	0	0	MMP13	102326091	102326091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.713000	0.92767	0.650000	0.86243	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-3.133654	1	0.170000	NM_002427			21	21		722	710	0		1	1		0	0	147	0		9.999970e-01	7.298954e-01	0	3	0	87	0	21	722
DYNC2H1	79659	broad.mit.edu	37	11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	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)		CCACTGTTGTGCAACTGTCTT	0.517																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				33						c.(100-102)tGc>tAc		dynein, cytoplasmic 2, heavy chain 1							85.0	83.0	84.0					11																	102980404		1971	4168	6139	SO:0001583	missense	79659	0	0					g.chr11:102980404G>A	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.101G>A	chr11.hg19:g.102980404G>A	ENSP00000364887:p.Cys34Tyr	0					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		1	245	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.101G>A	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206026	0.01568	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28454	1.75;1.61;1.75	5.63	-4.3	0.03710	5.63	-4.3	0.03710	.	0.812540	0.09108	U	0.847418	T	0.07683	0.0193	N	0.01352	-0.895	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	0.29458	-1.0011	10	0.24483	T	0.36	.	2.6491	0.04993	0.2384:0.257:0.3793:0.1253	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	34	ENSP00000364887:C34Y;ENSP00000334021:C34Y;ENSP00000381167:C34Y	ENSP00000334021:C34Y	C	+	2	0	0	DYNC2H1	102485614	102485614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-0.402000	0.07633	-1.322000	0.01289	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	XM_370652			29	28		150	146	1		1	0		0	0	44	0		1	1.325516e-01	0	0	0	4	0	29	150
DYNC2H1	79659	broad.mit.edu	37	11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C|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	2556					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)		ACATCAGTGTTTCAAGGAGAT	0.343																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0				33						c.(7666-7668)tTt>tGt		dynein, cytoplasmic 2, heavy chain 1							63.0	61.0	62.0					11																	103062952		1839	4093	5932	SO:0001583	missense	79659	0	0					g.chr11:103062952T>G	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.7667T>G	chr11.hg19:g.103062952T>G	ENSP00000364887:p.Phe2556Cys	0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		47	7811	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.7667T>G	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354833	0.61293	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	5.73	5.73	0.89815	.	.	.	.	.	T	0.38612	0.1047	L	0.40543	1.245	0.36516	D	0.869866	P;P	0.45531	0.78;0.86	B;P	0.50440	0.325;0.641	T	0.41893	-0.9483	9	0.51188	T	0.08	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	2556;2556	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2556	ENSP00000364887:F2556C;ENSP00000381167:F2556C	ENSP00000364887:F2556C	F	+	2	0	0	DYNC2H1	102568162	102568162	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.682000	0.84083	2.302000	0.77476	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-13.210970	1	0.170000	XM_370652			17	17		69	64	1		1	1		0	0	22	0		9.999701e-01	8.210646e-01	0	3	0	12	0	17	69
DYNC2H1	79659	broad.mit.edu	37	11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I|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	2915	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)			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)		GATGAACTGAACAGAAAAGCT	0.353																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				33						c.(8743-8745)aAc>aTc		dynein, cytoplasmic 2, heavy chain 1							89.0	83.0	85.0					11																	103086499		1887	4125	6012	SO:0001583	missense	79659	0	0					g.chr11:103086499A>T	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.8744A>T	chr11.hg19:g.103086499A>T	ENSP00000364887:p.Asn2915Ile	0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I	p.N2915I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		55	8888	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.8744A>T	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069975	0.76301	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74315	-0.83;-0.83	5.33	5.33	0.75918	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.090476	0.41194	U	0.000931	T	0.74023	0.3662	L	0.40543	1.245	0.50313	D	0.999868	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.77011	-0.2746	10	0.66056	D	0.02	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2915;2915	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2915	ENSP00000364887:N2915I;ENSP00000381167:N2915I	ENSP00000364887:N2915I	N	+	2	0	0	DYNC2H1	102591709	102591709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.016000	0.59253	0.533000	0.62120	AAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	XM_370652			19	19		77	76	1		1	1		0	0	24	0		9.999952e-01	9.758972e-01	0	7	0	21	0	19	77
DYNC2H1	79659	broad.mit.edu	37	11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C|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	3081	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)			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)		GAATGCTAAGCGTGCCAGTAC	0.398																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				33						c.(9241-9243)Cgt>Tgt		dynein, cytoplasmic 2, heavy chain 1							90.0	87.0	88.0					11																	103093703		1882	4113	5995	SO:0001583	missense	79659	0	0					g.chr11:103093703C>T	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.9241C>T	chr11.hg19:g.103093703C>T	ENSP00000364887:p.Arg3081Cys	0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		59	9385	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.9241C>T	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222317	0.79464	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74421	-0.84;-0.84	5.92	5.92	0.95590	5.92	5.92	0.95590	Dynein heavy chain, coiled coil stalk (1);	0.060551	0.64402	D	0.000004	D	0.88570	0.6472	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90260	0.4300	10	0.87932	D	0	.	13.706	0.62639	0.2692:0.7308:0.0:0.0	.	3081;3081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3081	ENSP00000364887:R3081C;ENSP00000381167:R3081C	ENSP00000364887:R3081C	R	+	1	0	0	DYNC2H1	102598913	102598913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	2.809000	0.96659	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-19.499260	1	0.170000	XM_370652			40	39		232	230	1		1	1		0	0	69	0		1	9.181487e-01	0	12	0	15	0	40	232
DYNC2H1	79659	broad.mit.edu	37	11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I|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	3685					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)		AGACCGGACAGATTGCAAAGT	0.323																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997954	0.990000	1.000000																										0				33						c.(11053-11055)aGa>aTa		dynein, cytoplasmic 2, heavy chain 1							98.0	92.0	94.0					11																	103158293		1836	4086	5922	SO:0001583	missense	79659	0	0					g.chr11:103158293G>T	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.11054G>T	chr11.hg19:g.103158293G>T	ENSP00000364887:p.Arg3685Ile	0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	p.R3685I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		75	11198	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.11054G>T	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.218475	0.95104	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.62835	-0.6770	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3685;3692	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3685;3692	ENSP00000364887:R3685I;ENSP00000381167:R3692I	ENSP00000364887:R3685I	R	+	2	0	0	DYNC2H1	102663503	102663503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	XM_370652			17	17		104	102	1		1	1		0	0	22	0		9.999741e-01	9.464487e-01	0	14	0	19	0	17	104
ADM	133	broad.mit.edu	37	11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|RP11-351I24.1_ENST00000526906.1_RNA			P35318	ADML_HUMAN	adrenomedullin	173					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672																																						ENST00000528655.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(517-519)gCt>gTt		adrenomedullin							17.0	21.0	19.0					11																	10328148		2176	4232	6408	SO:0001583	missense	133	0	0					g.chr11:10328148C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.518C>T	chr11.hg19:g.10328148C>T	ENSP00000436607:p.Ala173Val	0					ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000525063.1_Missense_Mutation_p.A173V	p.A173V			1	2	3	1.993097	P35318	ADML_HUMAN		3	1135	+			B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	1	1	hg19	c.518C>T	CCDS7801.1	1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197914	0.58126	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.56275	1.06;1.01;0.47;1.06;1.06	5.21	1.66	0.24008	5.21	1.66	0.24008	.	0.488207	0.24267	N	0.040036	T	0.27063	0.0663	N	0.08118	0	0.18873	N	0.999985	B	0.09022	0.002	B	0.12156	0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-2.2324	6.4641	0.21971	0.0:0.6484:0.1456:0.206	.	173	P35318	ADML_HUMAN	V	173;126;105;173;173	ENSP00000278175:A173V;ENSP00000431438:A126V;ENSP00000436837:A105V;ENSP00000436607:A173V;ENSP00000435124:A173V	ENSP00000278175:A173V	A	+	2	0	0	ADM	10284724	10284724	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.996000	0.29719	0.644000	0.30656	0.561000	0.74099	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_001124			47	46		210	204	1		1	1		0	0	38	0		1	9.999962e-01	0	29	0	58	0	47	210
DYNC2H1	79659	broad.mit.edu	37	11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F|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	3940					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)		CCTTAGAGTTCTTCAGTCATA	0.333																																						ENST00000375735.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999832	0.990000	1.000000																										0				33						c.(11818-11820)Ctt>Ttt		dynein, cytoplasmic 2, heavy chain 1							93.0	88.0	90.0					11																	103191850		1816	4080	5896	SO:0001583	missense	79659	0	0					g.chr11:103191850C>T	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.11818C>T	chr11.hg19:g.103191850C>T	ENSP00000364887:p.Leu3940Phe	0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F	p.L3940F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	1.991067	Q8NCM8	DYHC2_HUMAN		81	11962	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	1	1	hg19	c.11818C>T	CCDS53701.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204404	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.12255	2.7;2.7	5.72	5.72	0.89469	5.72	5.72	0.89469	Dynein heavy chain (1);	0.134693	0.50627	D	0.000104	T	0.49541	0.1563	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58691	-0.7592	10	0.72032	D	0.01	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	3940;3947	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3940;3947;186	ENSP00000364887:L3940F;ENSP00000381167:L3947F	ENSP00000364887:L3940F	L	+	1	0	0	DYNC2H1	102697060	102697060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.626000	0.46460	2.705000	0.92388	0.650000	0.86243	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	XM_370652			17	17		73	73	1		1	1		0	0	22	0		9.999818e-01	9.941278e-01	0	7	0	33	0	17	73
DDI1	414301	broad.mit.edu	37	11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	63	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			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)		TCCCTGGGCTCCTACGGCCTC	0.582																																						ENST00000302259.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(187-189)tCc>tTc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							151.0	140.0	144.0					11																	103907738		2202	4299	6501	SO:0001583	missense	414301	0	0					g.chr11:103907738C>T		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.188C>T	chr11.hg19:g.103907738C>T	ENSP00000302805:p.Ser63Phe	0					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.S63F	NM_001001711.2	NP_001001711.1	1	2	3	1.991067	Q8WTU0	DDI1_HUMAN		1	431	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	1	1	hg19	c.188C>T	CCDS31660.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580993|2.580993	0.46006|0.46006	.|.	.|.	ENSG00000170962|ENSG00000170967	ENST00000529268|ENST00000302259	T|T	0.36520|0.74002	1.25|-0.8	4.97|4.97	4.04|4.04	0.47022|0.47022	4.97|4.97	4.04|4.04	0.47022|0.47022	.|Ubiquitin supergroup (1);Ubiquitin (2);	.|0.318671	.|0.34555	.|N	.|0.003868	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.75447|0.75447	2.3|2.3	0.30488|0.30488	N|N	0.771676|0.771676	.|D	.|0.69078	.|0.997	.|D	.|0.69824	.|0.966	T|T	0.82246|0.82246	-0.0552|-0.0552	7|10	0.72032|0.72032	D|D	0.01|0.01	-8.519|-8.519	10.7048|10.7048	0.45948|0.45948	0.1902:0.8098:0.0:0.0|0.1902:0.8098:0.0:0.0	.|.	.|63	.|Q8WTU0	.|DDI1_HUMAN	E|F	6|63	ENSP00000432909:G6E|ENSP00000302805:S63F	ENSP00000432909:G6E|ENSP00000302805:S63F	G|S	-|+	2|2	0|0	0|0	PDGFD|DDI1	103412948|103412948	103412948|103412948	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.333000|0.333000	0.28666|0.28666	1.837000|1.837000	0.39201|0.39201	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GGA|TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	1	0	1		2	2	2	0		0	0	170		170	170	1	2.060000	-20.000000	1	0.170000	NM_001001711			185	185		775	762	0		1			0	0	170	0		1	0	0	0	0	0	0	185	775
DDI1	414301	broad.mit.edu	37	11	103908400	103908400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103908400C>T	ENST00000302259.3	+	1	1093	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	284							aspartic-type endopeptidase activity (GO:0004190)			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)		GCTGGTGGACCGACGGTGGGC	0.512																																						ENST00000302259.3	1.000000	0.140000	3.700000e-01	2.000000e-01	0.270000	0.307700	0.270000	0.260000																										0				52						c.(850-852)Cga>Tga		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							99.0	94.0	96.0					11																	103908400		2202	4299	6501	SO:0001587	stop_gained	414301	0	0					g.chr11:103908400C>T		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.850C>T	chr11.hg19:g.103908400C>T	ENSP00000302805:p.Arg284*	0					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R284*	NM_001001711.2	NP_001001711.1	1	2	3	1.991067	Q8WTU0	DDI1_HUMAN		1	1093	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	ENST00000302259.3	0	1	hg19	c.850C>T	CCDS31660.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.548956	0.97654	.	.	ENSG00000170967	ENST00000302259	.	.	.	5.21	3.28	0.37604	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4899	11.4457	0.50123	0.4742:0.5258:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302805:R284X	R	+	1	2	2	DDI1	103413610	103413610	0.997000	0.39634	0.822000	0.32727	0.672000	0.39443	0.464000	0.21988	0.840000	0.34995	0.655000	0.94253	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-2.743754	1	0.170000	NM_001001711			12	12		529	513	0		1			0	0	83	0		9.989568e-01	0	0	0	0	0	0	12	529
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000444739.2	-	5	1615	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_ENST00000393150.3_Missense_Mutation_p.F179L|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					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.F235F(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)		TGAATATCTGGAAGATGGTGT	0.483																																						ENST00000444739.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	23						c.(703-705)ttC>ttA		caspase 4, apoptosis-related cysteine peptidase							280.0	231.0	248.0					11																	104820346		2202	4299	6501	SO:0001583	missense	837	0	0					g.chr11:104820346G>T	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.705C>A	chr11.hg19:g.104820346G>T	ENSP00000388566:p.Phe235Leu	0					CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Missense_Mutation_p.F179L	p.F235L	NM_001225.3	NP_001216.1	1	2	3	1.991067	P49662	CASP4_HUMAN		5	1615	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	1	1	hg19	c.705C>A	CCDS8327.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013534	0.35511	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	0.471	0.16752	4.57	0.471	0.16752	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.171913	0.52532	D	0.000069	T	0.25082	0.0609	M	0.73319	2.225	0.20821	N	0.999842	P;P	0.40578	0.722;0.593	B;B	0.44044	0.439;0.233	T	0.10268	-1.0637	10	0.62326	D	0.03	.	7.3478	0.26674	0.5099:0.0:0.4901:0.0	.	235;235	B4E2D2;P49662	.;CASP4_HUMAN	L	235;179;188	ENSP00000388566:F235L;ENSP00000376857:F179L	ENSP00000347741:F188L	F	-	3	2	2	CASP4	104325556	104325556	0.064000	0.20934	0.380000	0.26093	0.105000	0.19272	0.351000	0.20096	0.169000	0.19679	-0.142000	0.14014	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_001225			104	104		485	475	1		1	1		0	0	123	0		1	1	0	99	0	380	0	104	485
CASP4	837	broad.mit.edu	37	11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000444739.2	-	3	1178	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_ENST00000393150.3_Missense_Mutation_p.P34S|CASP4_ENST00000531333.1_Intron	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	90	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)			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)		TCCATATTCGGATGAGCTGCA	0.443																																						ENST00000444739.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(268-270)Ccg>Tcg		caspase 4, apoptosis-related cysteine peptidase							88.0	80.0	83.0					11																	104822727		2202	4299	6501	SO:0001583	missense	837	0	0					g.chr11:104822727G>A	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.268C>T	chr11.hg19:g.104822727G>A	ENSP00000388566:p.Pro90Ser	0					CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.P34S	p.P90S	NM_001225.3	NP_001216.1	1	2	3	1.991067	P49662	CASP4_HUMAN		3	1178	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	1	1	hg19	c.268C>T	CCDS8327.1	1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.772249	0.02951	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.07800	4.88;4.52;3.16	3.9	-6.11	0.02131	3.9	-6.11	0.02131	DEATH-like (1);	1.198120	0.05940	N	0.636805	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.46176	-0.9210	10	0.09590	T	0.72	.	6.0759	0.19915	0.3684:0.2838:0.3478:0.0	.	90;90;90	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	90;34;43;90	ENSP00000388566:P90S;ENSP00000376857:P34S;ENSP00000401673:P90S	ENSP00000347741:P43S	P	-	1	0	0	CASP4	104327937	104327937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.784000	0.04633	-0.969000	0.03573	-0.216000	0.12614	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001225			62	62		250	247	1		1	1		0	0	63	0		1	1	0	110	0	345	0	62	250
CASP5	838	broad.mit.edu	37	11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000260315.3	-	6	738	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	247					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458																																						ENST00000260315.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				35						c.(739-741)Gca>Aca		caspase 5, apoptosis-related cysteine peptidase							92.0	83.0	86.0					11																	104871201		2202	4299	6501	SO:0001583	missense	838	0	0					g.chr11:104871201C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.739G>A	chr11.hg19:g.104871201C>T	ENSP00000260315:p.Ala247Thr	0					CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000393139.2_3'UTR	p.A247T			1	2	3	1.991067	P51878	CASP5_HUMAN		6	738	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	1	1	hg19	c.739G>A	CCDS8328.2	1	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260999	0.10239	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	4.06	-0.909	0.10514	4.06	-0.909	0.10514	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.945475	0.08952	N	0.870019	T	0.16300	0.0392	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.30033	0.016;0.056;0.266;0.122	B;B;B;B	0.19946	0.013;0.009;0.027;0.016	T	0.29792	-1.0000	10	0.20519	T	0.43	.	7.7663	0.28982	0.0:0.4791:0.0:0.5209	.	105;189;247;260	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	260;105;247;189;260;105	ENSP00000376849:A260T;ENSP00000398130:A105T;ENSP00000260315:A247T;ENSP00000388365:A189T;ENSP00000436877:A260T;ENSP00000434471:A105T	ENSP00000260315:A247T	A	-	1	0	0	CASP5	104376411	104376411	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.648000	0.05391	-0.001000	0.14495	0.205000	0.17691	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.151974	1	0.170000	NM_004347			44	44		245	242	1		1	0		0	0	47	0		1	1.746011e-01	0	1	0	4	0	44	245
CASP5	838	broad.mit.edu	37	11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000260315.3	-	5	577	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000393139.2_Silent_p.T123T|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	193					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483																																						ENST00000260315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(577-579)cGc>cAc		caspase 5, apoptosis-related cysteine peptidase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4402		0,2,2200	129.0	118.0	122.0		404,152,617,578	4.0	0.2	11	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,missense,missense	CASP5	NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3	29,29,29,29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/377,51/293,206/448,193/435	104872894	2,13000	2202	4299	6501	SO:0001583	missense	838	2	121412	34				g.chr11:104872894C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.578G>A	chr11.hg19:g.104872894C>T	ENSP00000260315:p.Arg193His	0					CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000393139.2_Silent_p.T123T	p.R193H			1	2	3	1.991067	P51878	CASP5_HUMAN		5	577	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	1	1	hg19	c.578G>A	CCDS8328.2	1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204119	0.38905	4.54E-4	0.0	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.98	3.98	0.46160	3.98	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.988	T	0.72293	-0.4336	10	0.72032	D	0.01	.	13.923	0.63945	0.0:1.0:0.0:0.0	.	51;135;193;206	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	H	206;51;193;135;206;51	ENSP00000376849:R206H;ENSP00000398130:R51H;ENSP00000260315:R193H;ENSP00000388365:R135H;ENSP00000436877:R206H;ENSP00000434471:R51H	ENSP00000260315:R193H	R	-	2	0	0	CASP5	104378104	104378104	0.077000	0.21312	0.156000	0.22583	0.057000	0.15508	1.320000	0.33666	1.942000	0.56320	0.411000	0.27672	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_004347			88	86		447	433	1		1	0		0	0	97	0		1	7.330215e-02	0	1	0	2	0	88	447
CASP5	838	broad.mit.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363																																						ENST00000260315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(130-132)tCt>tAt		caspase 5, apoptosis-related cysteine peptidase							150.0	135.0	140.0					11																	104879584		2202	4299	6501	SO:0001583	missense	838	0	0					g.chr11:104879584G>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.131C>A	chr11.hg19:g.104879584G>T	ENSP00000260315:p.Ser44Tyr	0					CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y	p.S44Y			1	2	3	1.991067	P51878	CASP5_HUMAN		2	130	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	1	1	hg19	c.131C>A	CCDS8328.2	1	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	0	CASP5	104384794	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004347			57	58		279	276	1		1			0	0	57	0		1	0	0	0	0	0	0	57	279
CASP1	834	broad.mit.edu	37	11	104900402	104900402	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000533400.1	-	6	887	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000594519.1_Silent_p.A191A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	284					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CACCACGGCAGGCCTGGATGA	0.418																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1	1.000000	0.680000	1	8.500000e-01	0.990000	0.948610	0.990000	1.000000																										0				5						c.(850-852)gcC>gcA		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)						89.0	75.0	80.0					11																	104900402		2202	4299	6501	SO:0001819	synonymous_variant	834	0	0					g.chr11:104900402G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.852C>A	chr11.hg19:g.104900402G>T		0					CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000393136.4_Silent_p.A263A	p.A284A	NM_001257118.1	NP_001244047.1	1	2	3	1.991067	P29466	CASP1_HUMAN		6	887	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	1	1	hg19	c.852C>A	CCDS8330.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_033292			22	22		226	218	0		1	0		0	0	46	0		9.999986e-01	9.992537e-01	0	0	0	120	0	22	226
AMPD3	272	broad.mit.edu	37	11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000396554.3	+	5	1023	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	219					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)			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)		CCCCAACCTGGATTACTTGGT	0.577																																						ENST00000396554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(682-684)Gat>Aat		adenosine monophosphate deaminase 3							108.0	90.0	96.0					11																	10506432		2201	4294	6495	SO:0001583	missense	272	0	0					g.chr11:10506432G>A	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.682G>A	chr11.hg19:g.10506432G>A	ENSP00000379802:p.Asp228Asn	0					AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	p.D228N	NM_000480.2	NP_000471.1	1	2	3	1.993097	Q01432	AMPD3_HUMAN		5	1023	+			A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	1	1	hg19	c.682G>A	CCDS7802.1	1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.324654	0.40554	N	0.001072	T	0.60676	0.2287	N	0.01817	-0.705	0.34621	D	0.718609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62501	-0.6841	10	0.08381	T	0.77	-6.4747	15.2918	0.73870	0.0:0.1395:0.8605:0.0	.	226;219;228	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	60;228;219;219;226;219	ENSP00000396000:D60N;ENSP00000379802:D228N;ENSP00000433284:D219N;ENSP00000379801:D219N;ENSP00000436987:D226N;ENSP00000431648:D219N	ENSP00000379801:D219N	D	+	1	0	0	AMPD3	10463008	10463008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.853000	0.55941	2.692000	0.91855	0.561000	0.74099	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000	NM_000480			83	82		450	434	1		1	1		0	0	116	0		1	8.589329e-01	0	4	0	17	0	83	450
CARD17	440068	broad.mit.edu	37	11	104971328	104971328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	62	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCCTTTCCGAATAACAGAGT	0.473																																						ENST00000375707.1	1.000000	0.830000	1	9.400000e-01	0.990000	0.979296	0.990000	1.000000																										0				6						c.(184-186)atT>atC		caspase recruitment domain family, member 17							150.0	140.0	144.0					11																	104971328		2202	4299	6501	SO:0001819	synonymous_variant	440068	0	0					g.chr11:104971328A>G		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.186T>C	chr11.hg19:g.104971328A>G		0					CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron	p.I62I	NM_001007232.1	NP_001007233.1	1	2	3	1.991067	Q5XLA6	CAR17_HUMAN		2	202	-				Silent	SNP	ENST00000375707.1	1	1	hg19	c.186T>C	CCDS31662.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_001007232			60	59		602	590	0		1	0		0	0	121	0		1	8.565087e-03	0	0	0	2	0	60	602
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000256178.3	-	4	639	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443																																						ENST00000256178.3	1.000000	0.810000	1	9.200000e-01	0.990000	0.972317	0.990000	1.000000																										0				8						c.(481-483)Gaa>Taa		lymphatic vessel endothelial hyaluronan receptor 1							349.0	320.0	330.0					11																	10582264		2201	4294	6495	SO:0001587	stop_gained	10894	1	121412	33				g.chr11:10582264C>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.481G>T	chr11.hg19:g.10582264C>A	ENSP00000256178:p.Glu161*	0					LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR	p.E161*	NM_006691.3	NP_006682.2	1	2	3	1.993097	Q9Y5Y7	LYVE1_HUMAN		4	639	-			Q8TC18|Q9UNF4	Nonsense_Mutation	SNP	ENST00000256178.3	0	1	hg19	c.481G>T	CCDS7804.1	1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903816	0.72754	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	5.27	4.36	0.52297	5.27	4.36	0.52297	.	0.458728	0.25205	N	0.032356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6432	10.1961	0.43056	0.0:0.9076:0.0:0.0924	.	.	.	.	X	161;57	.	ENSP00000256178:E161X	E	-	1	0	0	LYVE1	10538840	10538840	0.272000	0.24172	0.731000	0.30826	0.016000	0.09150	0.920000	0.28705	1.376000	0.46267	0.650000	0.86243	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-18.073200	1	0.170000	NM_016164			72	72		751	731	0		1	0		0	0	140	0		1	7.825358e-01	0	0	0	32	0	72	751
GRIA4	2893	broad.mit.edu	37	11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000530497.1	+	12	2003	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	668					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)			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)		ACAGAAATTGCCTATGGAACA	0.378																																						ENST00000530497.1	1.000000	0.680000	1	8.300000e-01	0.990000	0.941100	0.990000	1.000000																										0				82						c.(2002-2004)gCc>gAc		glutamate receptor, ionotropic, AMPA 4							75.0	71.0	72.0					11																	105797622		2202	4298	6500	SO:0001583	missense	2893	0	0					g.chr11:105797622C>A	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.2003C>A	chr11.hg19:g.105797622C>A	ENSP00000435775:p.Ala668Asp	0					GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D	p.A668D			1	2	3	1.991067	P48058	GRIA4_HUMAN		12	2003	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	1	1	hg19	c.2003C>A	CCDS8333.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.178614	0.94846	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.67	5.67	0.87782	5.67	5.67	0.87782	Ionotropic glutamate receptor (2);	0.072305	0.64402	D	0.000020	T	0.51415	0.1673	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75484	0.824;0.986	T	0.49826	-0.8898	10	0.59425	D	0.04	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	668;668	P48058;G3V164	GRIA4_HUMAN;.	D	668	ENSP00000282499:A668D;ENSP00000376835:A668D;ENSP00000435775:A668D;ENSP00000432180:A668D	ENSP00000282499:A668D	A	+	2	0	0	GRIA4	105302832	105302832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				25	25		266	264	0		1	0		0	0	34	0		9.999999e-01	0	0	0	0	1	0	25	266
KBTBD3	143879	broad.mit.edu	37	11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	390										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)		GTATGCATGGTTCTTGGTGTT	0.388																																						ENST00000526793.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				25						c.(1180-1182)Acc>Gcc		kelch repeat and BTB (POZ) domain containing 3							88.0	84.0	86.0					11																	105924236		2201	4298	6499	SO:0001583	missense	143879	0	0					g.chr11:105924236T>C	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.1180A>G	chr11.hg19:g.105924236T>C	ENSP00000436262:p.Thr394Ala	0					KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	p.T394A	NM_152433.3	NP_689646.2	1	2	3	1.991067	Q8NAB2	KBTB3_HUMAN		3	1339	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	1	1	hg19	c.1180A>G	CCDS8334.1	1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592241	0.66219	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.97	5.97	0.96955	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.31294	0.92	0.58432	D	0.999997	D;P	0.69078	0.997;0.905	D;P	0.69142	0.962;0.642	T	0.81252	-0.1017	10	0.39692	T	0.17	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	394;390	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	315;394;394	ENSP00000431910:T315A;ENSP00000436262:T394A;ENSP00000432163:T394A	ENSP00000436262:T394A	T	-	1	0	0	KBTBD3	105429446	105429446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_152433			33	33		146	143	1		1	0		0	0	48	0		1	2.373117e-01	0	1	0	4	0	33	146
KBTBD3	143879	broad.mit.edu	37	11	105929591	105929591	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000531482.2	-	1	247		c.e1+1		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000526793.1_Splice_Site			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3											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)		AGGTAAAGTACCTGAAAAAGT	0.323																																						ENST00000531482.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				25						c.e1+1		kelch repeat and BTB (POZ) domain containing 3							77.0	74.0	75.0					11																	105929591		2201	4298	6499	SO:0001630	splice_region_variant	143879	0	0					g.chr11:105929591C>A	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		ENST00000531482.2:c.233+1G>T	chr11.hg19:g.105929591C>A		0					KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000526793.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron				1	2	3	1.991067	Q8NAB2	KBTB3_HUMAN		1	247	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	Q6N066|Q86X38|Q96NK5	Splice_Site	SNP	ENST00000531482.2	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985867	0.74589	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KBTBD3	105434801	105434801	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_152433	Intron		28	28		148	147	0		1	1		0	0	37	0		1	1.287051e-01	0	2	0	2	0	28	148
MRVI1	10335	broad.mit.edu	37	11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000436272.1	-	18	2344	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	756	Glu-rich.				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)				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)		TTGCTGTAGGCTTCTTCCTCC	0.562																																						ENST00000436272.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2266-2268)Gcc>Acc		murine retrovirus integration site 1 homolog							78.0	83.0	81.0					11																	10603427		2052	4187	6239	SO:0001583	missense	10335	0	0					g.chr11:10603427C>T	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.2266G>A	chr11.hg19:g.10603427C>T	ENSP00000412229:p.Ala756Thr	0					MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|LYVE1_ENST00000531706.1_Intron	p.A756T			1	2	3	1.993097	Q9Y6F6	MRVI1_HUMAN		18	2344	-			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	1	1	hg19	c.2266G>A		1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011331	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.38887	2.23;2.25;1.66;1.66;1.11;1.11;2.05;1.77;2.23;1.66	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.062155	0.64402	D	0.000006	T	0.64271	0.2583	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.926;0.999;0.999;0.998	T	0.63902	-0.6532	10	0.56958	D	0.05	-11.5738	19.2738	0.94021	0.0:1.0:0.0:0.0	.	577;756;775;774	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	774;757;756;692;692;468;468;783;577;775;692	ENSP00000414598:A774T;ENSP00000412229:A756T;ENSP00000448278:A692T;ENSP00000446764:A692T;ENSP00000441971:A468T;ENSP00000401205:A468T;ENSP00000412130:A783T;ENSP00000437784:A577T;ENSP00000432436:A775T;ENSP00000432067:A692T	ENSP00000307885:A757T	A	-	1	0	0	MRVI1	10560003	10560003	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.505000	0.66981	2.720000	0.93068	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_001098579			76	76		275	273	0		1	0		0	0	86	0		1	1	0	0	0	137	0	76	275
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000526793.1_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																																						ENST00000278618.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P103P(1)	large_intestine(1)	17						c.(307-309)ccG>ccA		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							110.0	109.0	109.0					11																	105950319		2201	4299	6500	SO:0001819	synonymous_variant	60496	5	121412	40				g.chr11:105950319G>A	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	chr11.hg19:g.105950319G>A		0					KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	p.P103P	NM_015423.2	NP_056238.2	1	2	3	1.991067	Q9NRN7	ADPPT_HUMAN		2	531	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	1	1	hg19	c.309G>A	CCDS31664.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_015423			65	65		310	305	1		1	1		0	0	93	0		1	1	0	34	0	111	0	65	310
CWF19L2	143884	broad.mit.edu	37	11	107309826	107309826	+	Silent	SNP	C	C	T	rs201136952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity (GO:0003824)			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)		CTTTAGTAATCGATGACACAC	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13512	0.0		0.0	False		,,,				2504	0.0					ENST00000282251.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999671	0.990000	1.000000																										0				40						c.(652-654)tcG>tcA		CWF19-like 2, cell cycle control (S. pombe)							78.0	67.0	71.0					11																	107309826		2201	4298	6499	SO:0001819	synonymous_variant	143884	2	121408	32				g.chr11:107309826C>T	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.654G>A	chr11.hg19:g.107309826C>T		0					CWF19L2_ENST00000433523.1_Silent_p.S218S	p.S218S	NM_152434.2	NP_689647.2	1	2	3	1.991067	Q2TBE0	C19L2_HUMAN		6	681	-		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)	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	1	1	hg19	c.654G>A	CCDS8336.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_152434			18	17		89	86	1		1	1		0	0	21	0		9.999857e-01	8.467845e-01	0	5	0	14	0	18	89
ELMOD1	55531	broad.mit.edu	37	11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000265840.7	+	3	313	c.48C>A	c.(46-48)taC>taA	p.Y16*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	16					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			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)		TGTATTTTTACTGTAAATTTC	0.428																																						ENST00000265840.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.997757	0.990000	1.000000																										0				19						c.(46-48)taC>taA		ELMO/CED-12 domain containing 1							60.0	53.0	55.0					11																	107501173		1851	4091	5942	SO:0001587	stop_gained	55531	0	0					g.chr11:107501173C>A	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.48C>A	chr11.hg19:g.107501173C>A	ENSP00000265840:p.Tyr16*	0					ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*|ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*	p.Y16*	NM_018712.3	NP_061182.3	1	2	3	1.991067	Q8N336	ELMD1_HUMAN		3	313	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	B4E167|G5E9S5|Q9NPW3	Nonsense_Mutation	SNP	ENST00000265840.7	0	1	hg19	c.48C>A	CCDS44723.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.384358	0.97524	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	2.56	0.30785	5.47	2.56	0.30785	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8347	0.40963	0.0:0.7197:0.0:0.2803	.	.	.	.	X	10;16;16	.	ENSP00000265840:Y16X	Y	+	3	2	2	ELMOD1	107006383	107006383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.393000	0.44442	0.272000	0.22027	0.655000	0.94253	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-19.381460	1	0.170000	NM_018712			10	10		44	43	0		1	0		0	0	19	0		9.975686e-01	4.135338e-02	0	0	0	2	0	10	44
ELMOD1	55531	broad.mit.edu	37	11	107535879	107535879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000265840.7	+	12	1226	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	321					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			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)		AGACATGGCGCTGTGCCCACA	0.478																																						ENST00000265840.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(961-963)Ctg>Ttg		ELMO/CED-12 domain containing 1							131.0	139.0	137.0					11																	107535879		2062	4204	6266	SO:0001819	synonymous_variant	55531	0	0					g.chr11:107535879C>T	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.961C>T	chr11.hg19:g.107535879C>T		0					ELMOD1_ENST00000531234.1_Silent_p.L315L|ELMOD1_ENST00000443271.2_Silent_p.L313L	p.L321L	NM_018712.3	NP_061182.3	1	2	3	1.991067	Q8N336	ELMD1_HUMAN		12	1226	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	1	1	hg19	c.961C>T	CCDS44723.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	1		16	2	2	0		0	1	152		152	152	1	2.060000	-20.000000	1	0.170000	NM_018712			129	127		561	548	1		1	0		0	0	152	0		1	0	0	0	0	1	0	129	561
CTR9	9646	broad.mit.edu	37	11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	3					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632																																						ENST00000361367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(7-9)Cgg>Tgg		CTR9, Paf1/RNA polymerase II complex component							44.0	44.0	44.0					11																	10772966		2200	4294	6494	SO:0001583	missense	9646	0	0					g.chr11:10772966C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.7C>T	chr11.hg19:g.10772966C>T	ENSP00000355013:p.Arg3Trp	0						p.R3W	NM_014633.3	NP_055448.1	1	2	3	1.993097	Q6PD62	CTR9_HUMAN		1	433	+			D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	1	1	hg19	c.7C>T	CCDS7805.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.108579	0.97291	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.36890	-0.9729	10	0.72032	D	0.01	-13.286	18.1653	0.89723	0.0:1.0:0.0:0.0	.	3	Q6PD62	CTR9_HUMAN	W	3	ENSP00000355013:R3W	ENSP00000355013:R3W	R	+	1	2	2	CTR9	10729542	10729542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.805000	0.96524	0.650000	0.86243	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000	NM_014633			36	35		136	135	1		1	1		0	0	31	0		1	1	0	28	0	90	0	36	136
CTR9	9646	broad.mit.edu	37	11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	266					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328																																						ENST00000361367.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(796-798)Cct>Tct		CTR9, Paf1/RNA polymerase II complex component							120.0	115.0	117.0					11																	10783548		2201	4294	6495	SO:0001583	missense	9646	0	0					g.chr11:10783548C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.796C>T	chr11.hg19:g.10783548C>T	ENSP00000355013:p.Pro266Ser	0						p.P266S	NM_014633.3	NP_055448.1	1	2	3	1.993097	Q6PD62	CTR9_HUMAN		7	1222	+			D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	1	1	hg19	c.796C>T	CCDS7805.1	1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838796	0.32513	.	.	ENSG00000198730	ENST00000361367	T	0.54479	0.57	4.98	4.98	0.66077	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.05619	-0.005	0.80722	D	1	B	0.24426	0.103	B	0.22753	0.041	T	0.12967	-1.0527	10	0.25106	T	0.35	-13.9099	18.239	0.89960	0.0:1.0:0.0:0.0	.	266	Q6PD62	CTR9_HUMAN	S	266	ENSP00000355013:P266S	ENSP00000355013:P266S	P	+	1	0	0	CTR9	10740124	10740124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.776000	0.68924	2.315000	0.78130	0.460000	0.39030	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.351963	1	0.170000	NM_014633			45	44		229	225	1		1	1		0	0	59	0		1	9.999939e-01	0	16	0	79	0	45	229
CTR9	9646	broad.mit.edu	37	11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	583					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418																																						ENST00000361367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1747-1749)cCt>cAt		CTR9, Paf1/RNA polymerase II complex component							246.0	249.0	248.0					11																	10789414		2201	4294	6495	SO:0001583	missense	9646	0	0					g.chr11:10789414C>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1748C>A	chr11.hg19:g.10789414C>A	ENSP00000355013:p.Pro583His	0						p.P583H	NM_014633.3	NP_055448.1	1	2	3	1.993097	Q6PD62	CTR9_HUMAN		14	2174	+			D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	1	1	hg19	c.1748C>A	CCDS7805.1	1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807769	0.70797	.	.	ENSG00000198730	ENST00000361367	T	0.17528	2.27	5.56	5.56	0.83823	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.55481	1.735	0.80722	D	1	P	0.45569	0.861	B	0.38500	0.275	T	0.01416	-1.1360	10	0.41790	T	0.15	-11.4677	19.5083	0.95130	0.0:1.0:0.0:0.0	.	583	Q6PD62	CTR9_HUMAN	H	583	ENSP00000355013:P583H	ENSP00000355013:P583H	P	+	2	0	0	CTR9	10745990	10745990	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.735000	0.84939	2.620000	0.88729	0.467000	0.42956	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1		2	2	2	0		0	0	317		317	315	1	2.060000	-20.000000	1	0.170000	NM_014633			256	248		1030	999	1		1	1		0	0	317	0		1	1	0	46	0	99	0	256	1030
SLC35F2	54733	broad.mit.edu	37	11	107682519	107682519	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525815.1	-	3	708	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G|SLC35F2_ENST00000525071.1_Splice_Site_p.G96G|SLC35F2_ENST00000265836.7_5'UTR	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	96					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368																																						ENST00000525815.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(286-288)ggC>ggT		solute carrier family 35, member F2							161.0	147.0	151.0					11																	107682519		1849	4091	5940	SO:0001630	splice_region_variant	54733	0	0					g.chr11:107682519G>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.287-1C>T	chr11.hg19:g.107682519G>A		0					SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525071.1_Splice_Site_p.G96G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G	p.G96G	NM_017515.4	NP_059985.2	1	2	3	1.991067	Q8IXU6	S35F2_HUMAN		3	708	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Splice_Site	SNP	ENST00000525815.1	1	0	hg19	c.288C>T	CCDS41709.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_017515	Silent		87	86		421	415	1		1	0		0	0	111	0		1	8.594203e-01	0	0	0	19	0	87	421
CTR9	9646	broad.mit.edu	37	11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	796					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328																																						ENST00000361367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2386-2388)tTg>tCg		CTR9, Paf1/RNA polymerase II complex component							156.0	156.0	156.0					11																	10793106		2201	4294	6495	SO:0001583	missense	9646	1	121412	31				g.chr11:10793106T>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2387T>C	chr11.hg19:g.10793106T>C	ENSP00000355013:p.Leu796Ser	0						p.L796S	NM_014633.3	NP_055448.1	1	2	3	1.993097	Q6PD62	CTR9_HUMAN		19	2813	+			D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	1	1	hg19	c.2387T>C	CCDS7805.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432723	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.60797	0.16	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84111	0.0401	10	0.87932	D	0	-10.9708	15.8948	0.79326	0.0:0.0:0.0:1.0	.	796	Q6PD62	CTR9_HUMAN	S	796	ENSP00000355013:L796S	ENSP00000355013:L796S	L	+	2	0	0	CTR9	10749682	10749682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.219000	0.72066	0.528000	0.53228	TTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_014633			128	127		571	560	1		1	1		0	0	122	0		1	1	0	58	0	115	0	128	571
CUL5	8065	broad.mit.edu	37	11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	164					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353																																						ENST00000393094.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.997767	0.990000	1.000000																										0				23						c.(490-492)Cat>Tat		cullin 5							113.0	111.0	112.0					11																	107923465		2201	4298	6499	SO:0001583	missense	8065	0	0					g.chr11:107923465C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.490C>T	chr11.hg19:g.107923465C>T	ENSP00000376808:p.His164Tyr	0						p.H164Y	NM_003478.3	NP_003469.2	1	2	3	1.991067	Q93034	CUL5_HUMAN		5	1106	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	1	1	hg19	c.490C>T	CCDS31668.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159761|3.159761	0.57368|0.57368	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|.	0.30448|.	1.53|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.71474|0.71474	-0.4582|-0.4582	10|5	0.59425|.	D|.	0.04|.	-15.6841|-15.6841	19.6572|19.6572	0.95847|0.95847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164|.	Q93034|.	CUL5_HUMAN|.	Y|I	164|60	ENSP00000376808:H164Y|.	ENSP00000376808:H164Y|.	H|T	+|+	1|2	0|0	0|0	CUL5|CUL5	107428675|107428675	107428675|107428675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.786000|7.786000	0.85741|0.85741	2.651000|2.651000	0.90000|0.90000	0.549000|0.549000	0.68633|0.68633	CAT|ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-11.663010	1	0.170000				22	22		150	149	1		1	1		0	0	33	0		9.999992e-01	9.959556e-01	0	14	0	49	0	22	150
ACAT1	38	broad.mit.edu	37	11	108014709	108014709	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108014709G>T	ENST00000265838.4	+	10	1031		c.e10-1			NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TTTTTAAACAGCATTTGCTGA	0.398																																						ENST00000265838.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.e10-1		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						71.0	77.0	75.0					11																	108014709		2201	4298	6499	SO:0001630	splice_region_variant	38	0	0					g.chr11:108014709G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.941-1G>T	chr11.hg19:g.108014709G>T		0							NM_000019.3	NP_000010.1	1	2	3	1.991067	P24752	THIL_HUMAN		10	1031	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	B2R6H1|G3XAB4|Q96FG8	Splice_Site	SNP	ENST00000265838.4	1	0	hg19		CCDS8339.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337248	0.60963	.	.	ENSG00000075239	ENST00000265838	.	.	.	5.47	4.56	0.56223	5.47	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1592	0.65436	0.0722:0.0:0.9278:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ACAT1	107519919	107519919	1.000000	0.71417	0.912000	0.35992	0.683000	0.39861	9.386000	0.97228	1.323000	0.45263	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-3.285398	1	0.170000	NM_000019	Intron		63	56		295	267	1		1			0	0	64	0		1	0	0	0	0	0	0	63	295
ACAT1	38	broad.mit.edu	37	11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	355					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343																																						ENST00000265838.4	1.000000	0.340000	6.300000e-01	4.200000e-01	0.510000	0.536948	0.510000	0.500000																										0				10						c.(1063-1065)gCc>gTc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						150.0	172.0	164.0					11																	108016987		2201	4298	6499	SO:0001583	missense	38	0	0					g.chr11:108016987C>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1064C>T	chr11.hg19:g.108016987C>T	ENSP00000265838:p.Ala355Val	0						p.A355V	NM_000019.3	NP_000010.1	1	2	3	1.991067	P24752	THIL_HUMAN		11	1155	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	1	1	hg19	c.1064C>T	CCDS8339.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.515935	0.96402	.	.	ENSG00000075239	ENST00000265838	D	0.96619	-4.07	5.86	5.86	0.93980	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-6.009	20.1986	0.98248	0.0:1.0:0.0:0.0	.	355	P24752	THIL_HUMAN	V	355	ENSP00000265838:A355V	ENSP00000265838:A355V	A	+	2	0	0	ACAT1	107522197	107522197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.584000	0.82572	2.781000	0.95711	0.650000	0.86243	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	1		2	2	2	0		0	0	171		171	171	1	2.060000	-4.351529	1	0.170000	NM_000019			27	27		604	595	0		1	1		0	0	171	0		9.999999e-01	9.981513e-01	0	15	0	202	0	27	604
ACAT1	38	broad.mit.edu	37	11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	421					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478																																						ENST00000265838.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1261-1263)Gcc>Acc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						140.0	124.0	129.0					11																	108018094		2201	4298	6499	SO:0001583	missense	38	1	121412	30				g.chr11:108018094G>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1261G>A	chr11.hg19:g.108018094G>A	ENSP00000265838:p.Ala421Thr	0						p.A421T	NM_000019.3	NP_000010.1	1	2	3	1.991067	P24752	THIL_HUMAN		12	1352	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	1	1	hg19	c.1261G>A	CCDS8339.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553242	0.86127	.	.	ENSG00000075239	ENST00000265838	D	0.95238	-3.65	5.57	5.57	0.84162	5.57	5.57	0.84162	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.187217	0.47852	D	0.000220	D	0.95424	0.8514	M	0.68317	2.08	0.80722	D	1	P	0.42483	0.781	P	0.47673	0.554	D	0.95388	0.8479	10	0.66056	D	0.02	-18.7742	19.9215	0.97087	0.0:0.0:1.0:0.0	.	421	P24752	THIL_HUMAN	T	421	ENSP00000265838:A421T	ENSP00000265838:A421T	A	+	1	0	0	ACAT1	107523304	107523304	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	3.857000	0.55972	2.785000	0.95823	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_000019			65	64		336	335	1		1	0		0	0	74	0		1	9.999999e-01	0	0	0	121	0	65	336
NPAT	4863	broad.mit.edu	37	11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	913					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403																																						ENST00000278612.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2737-2739)aAc>aGc		nuclear protein, ataxia-telangiectasia locus							236.0	219.0	224.0					11																	108042973		1965	4148	6113	SO:0001583	missense	4863	0	0					g.chr11:108042973T>C	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.2738A>G	chr11.hg19:g.108042973T>C	ENSP00000278612:p.Asn913Ser	0					NPAT_ENST00000610253.1_5'UTR	p.N913S	NM_002519.2	NP_002510.2	1	2	3	1.991067	Q14207	NPAT_HUMAN		13	2843	-		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)	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	1	1	hg19	c.2738A>G	CCDS41710.1	1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843028	0.16963	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.83	0.92	0.19397	5.83	0.92	0.19397	.	0.310876	0.32952	N	0.005447	T	0.04452	0.0122	L	0.50919	1.6	0.24433	N	0.994562	B;B	0.20052	0.018;0.041	B;B	0.16722	0.016;0.011	T	0.39057	-0.9632	10	0.26408	T	0.33	-6.4258	5.5292	0.16974	0.1229:0.2474:0.0:0.6297	.	913;913	B9EG70;Q14207	.;NPAT_HUMAN	S	913	ENSP00000278612:N913S	ENSP00000278612:N913S	N	-	2	0	0	NPAT	107548183	107548183	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	0.607000	0.24209	0.113000	0.18004	0.533000	0.62120	AAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_002519			147	146		741	726	1		1	1		0	0	191	0		1	9.975932e-01	0	11	0	36	0	147	741
NPAT	4863	broad.mit.edu	37	11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	715					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438																																						ENST00000278612.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				46						c.(2143-2145)Cct>Tct		nuclear protein, ataxia-telangiectasia locus							107.0	98.0	101.0					11																	108043568		1887	4119	6006	SO:0001583	missense	4863	0	0					g.chr11:108043568G>A	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.2143C>T	chr11.hg19:g.108043568G>A	ENSP00000278612:p.Pro715Ser	0					NPAT_ENST00000610253.1_5'UTR	p.P715S	NM_002519.2	NP_002510.2	1	2	3	1.991067	Q14207	NPAT_HUMAN		13	2248	-		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)	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	1	1	hg19	c.2143C>T	CCDS41710.1	1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692611	0.03303	.	.	ENSG00000149308	ENST00000278612	T	0.04809	3.55	6.08	-1.87	0.07737	6.08	-1.87	0.07737	.	0.545184	0.20071	N	0.099871	T	0.04679	0.0127	M	0.61703	1.905	0.09310	N	1	B;B	0.18610	0.023;0.029	B;B	0.17433	0.007;0.018	T	0.32079	-0.9920	10	0.38643	T	0.18	-0.4422	3.389	0.07282	0.1734:0.2359:0.4498:0.1409	.	715;715	B9EG70;Q14207	.;NPAT_HUMAN	S	715	ENSP00000278612:P715S	ENSP00000278612:P715S	P	-	1	0	0	NPAT	107548778	107548778	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	-0.179000	0.09768	-0.035000	0.13691	-0.768000	0.03414	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-19.999970	1	0.170000	NM_002519			55	54		333	332	1		1	1		0	0	64	0		1	9.827774e-01	0	12	0	29	0	55	333
MUC2	4583	broad.mit.edu	37	11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	384					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667																																						ENST00000441003.2	1.000000	0.750000	1	9.900000e-01	0.990000	0.982064	0.990000	1.000000																										0				102						c.(1150-1152)Gac>Tac		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						19.0	24.0	22.0					11																	1080508		2053	4179	6232	SO:0001583	missense	4583	1	120222	27				g.chr11:1080508G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1150G>T	chr11.hg19:g.1080508G>T	ENSP00000415183:p.Asp384Tyr	0					MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	p.D384Y	NM_002457.2	NP_002448.2	1	2	3	1.993097	Q02817	MUC2_HUMAN		9	1177	+		all_cancers(49;1.08e-07)|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;0.191)	Q14878	Missense_Mutation	SNP	ENST00000441003.2	0	1	hg19	c.1150G>T		1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221035	0.39201	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	4.25	4.25	0.50352	4.25	4.25	0.50352	.	0.471651	0.19231	U	0.119405	T	0.73976	0.3656	M	0.80183	2.485	0.23611	N	0.997291	P	0.38800	0.648	P	0.47786	0.557	T	0.70285	-0.4914	10	0.87932	D	0	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	384	E7EUV1	.	Y	384	ENSP00000415183:D384Y;ENSP00000351956:D384Y	ENSP00000351956:D384Y	D	+	1	0	0	MUC2	1070508	1070508	0.992000	0.36948	0.858000	0.33744	0.944000	0.59088	4.831000	0.62752	2.219000	0.72066	0.491000	0.48974	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-16.493600	1	0.170000	NM_002457			9	9		62	60	1		1			0	0	19	0		9.945574e-01	0	0	0	0	0	0	9	62
NPAT	4863	broad.mit.edu	37	11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	392					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398																																						ENST00000278612.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999606	0.990000	1.000000																										0				46						c.(1174-1176)aAt>aGt		nuclear protein, ataxia-telangiectasia locus							108.0	98.0	101.0					11																	108044536		1881	4101	5982	SO:0001583	missense	4863	0	0					g.chr11:108044536T>C	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.1175A>G	chr11.hg19:g.108044536T>C	ENSP00000278612:p.Asn392Ser	0					NPAT_ENST00000610253.1_5'UTR	p.N392S	NM_002519.2	NP_002510.2	1	2	3	1.991067	Q14207	NPAT_HUMAN		13	1280	-		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)	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	1	1	hg19	c.1175A>G	CCDS41710.1	1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.698758	0.00725	.	.	ENSG00000149308	ENST00000278612	T	0.03951	3.75	5.67	1.76	0.24704	5.67	1.76	0.24704	.	0.510538	0.20492	N	0.091278	T	0.02767	0.0083	L	0.36672	1.1	0.24006	N	0.99619	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.45279	-0.9272	10	0.06365	T	0.9	-14.1273	0.9102	0.01293	0.1478:0.1741:0.1959:0.4822	.	392;392	B9EG70;Q14207	.;NPAT_HUMAN	S	392	ENSP00000278612:N392S	ENSP00000278612:N392S	N	-	2	0	0	NPAT	107549746	107549746	1.000000	0.71417	0.985000	0.45067	0.020000	0.10135	0.889000	0.28282	0.517000	0.28361	0.528000	0.53228	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_002519			41	40		290	289	1		1	0		0	0	71	0		1	9.233865e-01	0	1	0	32	0	41	290
ATM	472	broad.mit.edu	37	11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000452508.2	+	49	7247	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	ATM_ENST00000278616.4_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2353	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			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)	TTAGAAAATCCTGCGGTCATC	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)																												ENST00000452508.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000			yes	Rec	yes	Ataxia-telangiectasia	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	11q22.3	472	D, Mis, N, F, S	ataxia telangiectasia mutated				"""L, O"""	L, O		leukemia, lymphoma, medulloblastoma, glioma	T-PLL		0				448						c.(7057-7059)cCt>cAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ATM serine/threonine kinase	Caffeine(DB00201)						88.0	81.0	83.0					11																	108198454		2201	4298	6499	SO:0001583	missense	472	0	0		Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	g.chr11:108198454C>A	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.7058C>A	chr11.hg19:g.108198454C>A	ENSP00000388058:p.Pro2353His	0	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.P2353H	p.P2353H			1	2	3	1.991067	Q13315	ATM_HUMAN		49	7247	+		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)	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	1	1	hg19	c.7058C>A	CCDS31669.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915849	0.92178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70986	-0.53;-0.53	5.3	5.3	0.74995	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86843	0.2018	10	0.87932	D	0	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	H	2353	ENSP00000278616:P2353H;ENSP00000388058:P2353H	ENSP00000278616:P2353H	P	+	2	0	0	ATM	107703664	107703664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_000051			37	37		174	171	1		1	1	1	0	0	35	514		1	9.991534e-01	1	14	108	39	536	37	174
ATM	472	broad.mit.edu	37	11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000452508.2	+	51	7564	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	ATM_ENST00000278616.4_Missense_Mutation_p.R2459C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2459	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)			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)	GAAAGAGGATCGTAAACGCTT	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)																												ENST00000452508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Ataxia-telangiectasia	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	11q22.3	472	D, Mis, N, F, S	ataxia telangiectasia mutated				"""L, O"""	L, O		leukemia, lymphoma, medulloblastoma, glioma	T-PLL		0				448						c.(7375-7377)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ATM serine/threonine kinase	Caffeine(DB00201)						125.0	128.0	127.0					11																	108201008		2201	4298	6499	SO:0001583	missense	472	4	121412	40	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	g.chr11:108201008C>T	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.7375C>T	chr11.hg19:g.108201008C>T	ENSP00000388058:p.Arg2459Cys	0	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2459C	p.R2459C			1	2	3	1.991067	Q13315	ATM_HUMAN		51	7564	+		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)	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	1	1	hg19	c.7375C>T	CCDS31669.1	1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749141	0.69533	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.048185	0.85682	D	0.000000	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90611	0.4552	10	0.87932	D	0	.	12.1357	0.53970	0.1713:0.8287:0.0:0.0	.	2459	Q13315	ATM_HUMAN	C	2459	ENSP00000278616:R2459C;ENSP00000388058:R2459C	ENSP00000278616:R2459C	R	+	1	0	0	ATM	107706218	107706218	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.303000	0.33470	2.293000	0.77203	0.561000	0.74099	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_000051			74	74		308	298	1		1	1	1	0	0	72	60		1	9.974458e-01	9.998432e-01	6	12	34	44	74	308
ATM	472	broad.mit.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	ATM_ENST00000278616.4_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2780	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	GGTGAATTTCTTGTTAACAAT	0.403			"""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)																												ENST00000452508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Ataxia-telangiectasia	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	11q22.3	472	D, Mis, N, F, S	ataxia telangiectasia mutated				"""L, O"""	L, O		leukemia, lymphoma, medulloblastoma, glioma	T-PLL		0				448						c.(8338-8340)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ATM serine/threonine kinase	Caffeine(DB00201)						151.0	137.0	142.0					11																	108214019		2201	4298	6499	SO:0001583	missense	472	0	0		Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	g.chr11:108214019T>G	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.8339T>G	chr11.hg19:g.108214019T>G	ENSP00000388058:p.Leu2780Arg	0	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R	p.L2780R			1	2	3	1.991067	Q13315	ATM_HUMAN		58	8528	+		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)	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	1	1	hg19	c.8339T>G	CCDS31669.1	1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	0	ATM	107719229	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_000051			136	134		605	598	1		1	1	1	0	0	122	519		1	9.992711e-01	1	14	95	35	514	136	605
EIF4G2	1982	broad.mit.edu	37	11	10823295	10823295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.Q442Q|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Intron	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438																																						ENST00000526148.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.Q442H(1)	endometrium(1)	43						c.(1324-1326)caG>caA		eukaryotic translation initiation factor 4 gamma, 2							117.0	112.0	114.0					11																	10823295		2201	4294	6495	SO:0001819	synonymous_variant	1982	0	0					g.chr11:10823295C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1326G>A	chr11.hg19:g.10823295C>T		0					SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Intron	p.Q442Q	NM_001172705.1	NP_001166176	1	2	3	1.993097				14	1836	-				Silent	SNP	ENST00000526148.1	1	1	hg19	c.1326G>A	CCDS31428.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-2.895736	1	0.170000	NM_001418			74	73		372	362	1		1	1		0	0	95	0		1	1	0	324	0	1168	0	74	372
ATM	472	broad.mit.edu	37	11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000452508.2	+	62	8990	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2934	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	TGTGAGAAAACCATGGAAGTG	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000452508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Ataxia-telangiectasia	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	11q22.3	472	D, Mis, N, F, S	ataxia telangiectasia mutated				"""L, O"""	L, O		leukemia, lymphoma, medulloblastoma, glioma	T-PLL		0				448						c.(8800-8802)aCc>aTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ATM serine/threonine kinase	Caffeine(DB00201)						186.0	195.0	192.0					11																	108225552		2201	4298	6499	SO:0001583	missense	472	0	0		Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	g.chr11:108225552C>T	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.8801C>T	chr11.hg19:g.108225552C>T	ENSP00000388058:p.Thr2934Ile	0	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|ATM_ENST00000525178.1_3'UTR	p.T2934I			1	2	3	1.991067	Q13315	ATM_HUMAN		62	8990	+		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)	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	1	1	hg19	c.8801C>T	CCDS31669.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033991	0.93575	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.72	5.72	0.89469	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86991	0.2110	10	0.54805	T	0.06	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	2934	Q13315	ATM_HUMAN	I	2934	ENSP00000278616:T2934I;ENSP00000388058:T2934I	ENSP00000278616:T2934I	T	+	2	0	0	ATM	107730762	107730762	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.789000	0.85783	2.704000	0.92352	0.467000	0.42956	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_000051			92	90		523	518	1		1	1	1	0	0	120	530		1	9.997850e-01	1	13	98	58	549	92	523
KDELC2	143888	broad.mit.edu	37	11	108356977	108356977	+	Silent	SNP	C	C	T	rs145604569	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000323468.5	-	3	656	c.591G>A	c.(589-591)acG>acA	p.T197T	KDELC2_ENST00000375648.1_Silent_p.T141T|KDELC2_ENST00000434945.2_Silent_p.T141T|KDELC2_ENST00000532730.1_5'Flank	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	197						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TATTGAGAATCGTGTAATGAA	0.398													C|||	10	0.00199681	0.0	0.0	5008	,	,		19490	0.0099		0.0	False		,,,				2504	0.0					ENST00000323468.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(589-591)acG>acA		KDEL (Lys-Asp-Glu-Leu) containing 2							182.0	164.0	170.0					11																	108356977		1858	4092	5950	SO:0001819	synonymous_variant	143888	87	120812	53				g.chr11:108356977C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.591G>A	chr11.hg19:g.108356977C>T		0					KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Silent_p.T141T|KDELC2_ENST00000375648.1_Silent_p.T141T	p.T197T	NM_153705.4	NP_714916.3	1	2	3	1.991067	Q7Z4H8	KDEL2_HUMAN		3	656	-		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)	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	1	0	hg19	c.591G>A	CCDS41711.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.211046	1	0.170000	NM_153705			95	94		434	423	1		1	1		0	0	118	0		1	1	0	11	0	134	0	95	434
EXPH5	23086	broad.mit.edu	37	11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1363					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)			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)		AATCTCTCTAGCTTTAGATTC	0.413																																						ENST00000265843.4	1.000000	0.440000	1	5.900000e-01	0.770000	0.779636	0.770000	1.000000																										0				91						c.(4087-4089)gCt>gAt		exophilin 5							40.0	41.0	41.0					11																	108382146		2199	4294	6493	SO:0001583	missense	23086	0	0					g.chr11:108382146G>T		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.4088C>A	chr11.hg19:g.108382146G>T	ENSP00000265843:p.Ala1363Asp	0					EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D	p.A1363D	NM_015065.2	NP_055880	1	2	3	1.991067	Q8NEV8	EXPH5_HUMAN		6	4198	-		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)	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	1	1	hg19	c.4088C>A	CCDS8341.1	0	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090475	0.36855	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04406	4.17;4.09;3.94;4.17;4.01;3.63	5.68	2.77	0.32553	5.68	2.77	0.32553	.	0.962804	0.08651	N	0.914056	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.50004	-0.8878	10	0.30078	T	0.28	-0.0054	7.8658	0.29537	0.1439:0.1312:0.7249:0.0	.	1363	Q8NEV8	EXPH5_HUMAN	D	1363;1287;1175;1356;1287;1175	ENSP00000265843:A1363D;ENSP00000391966:A1287D;ENSP00000411390:A1175D;ENSP00000432546:A1356D;ENSP00000432683:A1287D;ENSP00000446434:A1175D	ENSP00000265843:A1363D	A	-	2	0	0	EXPH5	107887356	107887356	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.987000	0.29603	0.411000	0.25702	-0.216000	0.12614	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-18.001260	1	0.170000	NM_015065			14	14		204	200	0		1	0		0	0	42	0		9.997538e-01	4.936240e-03	0	1	0	1	0	14	204
EXPH5	23086	broad.mit.edu	37	11	108383192	108383192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1014					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)			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)		TTGTGTCAAGTTCAGAAACTT	0.383																																						ENST00000265843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(3040-3042)gaA>gaG		exophilin 5							89.0	83.0	85.0					11																	108383192		2201	4298	6499	SO:0001819	synonymous_variant	23086	0	0					g.chr11:108383192T>C		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.3042A>G	chr11.hg19:g.108383192T>C		0					EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E	p.E1014E	NM_015065.2	NP_055880	1	2	3	1.991067	Q8NEV8	EXPH5_HUMAN		6	3152	-		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)	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	1	1	hg19	c.3042A>G	CCDS8341.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_015065			67	67		283	278	1		1	0		0	0	68	0		1	9.834863e-02	0	0	0	3	0	67	283
DDX10	1662	broad.mit.edu	37	11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000322536.3	+	11	1514	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000526794.1_Missense_Mutation_p.Q462P	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	462					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)			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)		GCTCAAGATCAAGATTTAAAA	0.289			T	NUP98	AML*																																	ENST00000322536.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				L	L	NUP98		AML*		0				27						c.(1384-1386)cAa>cCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							31.0	32.0	32.0					11																	108586668		2199	4291	6490	SO:0001583	missense	1662	0	0					g.chr11:108586668A>C	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.1385A>C	chr11.hg19:g.108586668A>C	ENSP00000314348:p.Gln462Pro	0					DDX10_ENST00000526794.1_Missense_Mutation_p.Q462P	p.Q462P	NM_004398.2	NP_004389.2	1	2	3	1.991067	Q13206	DDX10_HUMAN		11	1514	+		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)	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	1	1	hg19	c.1385A>C	CCDS8342.1	1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779047	0.31502	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.38887	1.12;1.11	6.04	2.42	0.29668	6.04	2.42	0.29668	.	0.215941	0.48767	D	0.000166	T	0.17662	0.0424	N	0.03071	-0.42	0.44539	D	0.997495	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.04961	-1.0915	10	0.23891	T	0.37	-2.9721	9.8661	0.41145	0.8031:0.0:0.1969:0.0	.	462;462	Q13206;E9PIF2	DDX10_HUMAN;.	P	462;368;462	ENSP00000314348:Q462P;ENSP00000432032:Q462P	ENSP00000314348:Q462P	Q	+	2	0	0	DDX10	108091878	108091878	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.048000	0.49862	0.162000	0.19483	0.528000	0.53228	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-13.454500	1	0.170000	NM_004398			18	18		76	76	1		1	1		0	0	47	0		9.999910e-01	9.754242e-01	0	12	0	17	0	18	76
MUC2	4583	broad.mit.edu	37	11	1086426	1086426	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1045	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657																																						ENST00000441003.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				102						c.(3133-3135)tcC>tcT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						18.0	25.0	23.0					11																	1086426		2094	4192	6286	SO:0001819	synonymous_variant	4583	0	0					g.chr11:1086426C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3135C>T	chr11.hg19:g.1086426C>T		0					MUC2_ENST00000359061.5_Silent_p.S1045S	p.S1045S	NM_002457.2	NP_002448.2	1	2	3	1.993097	Q02817	MUC2_HUMAN		23	3162	+		all_cancers(49;1.08e-07)|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;0.191)	Q14878	Silent	SNP	ENST00000441003.2	1	1	hg19	c.3135C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_002457			20	20		94	92	1		1			0	0	17	0		9.999971e-01	0	0	0	0	0	0	20	94
DDX10	1662	broad.mit.edu	37	11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000322536.3	+	13	1782	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.Y551*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	551					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)			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)		TTAGAGCCTACTTCAATGAGA	0.438			T	NUP98	AML*																																	ENST00000322536.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				L	L	NUP98		AML*		0				27						c.(1651-1653)taC>taA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64.0	64.0	64.0					11																	108593877		2201	4298	6499	SO:0001587	stop_gained	1662	0	0					g.chr11:108593877C>A	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.1653C>A	chr11.hg19:g.108593877C>A	ENSP00000314348:p.Tyr551*	0					DDX10_ENST00000526794.1_Nonsense_Mutation_p.Y551*	p.Y551*	NM_004398.2	NP_004389.2	1	2	3	1.991067	Q13206	DDX10_HUMAN		13	1782	+		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)	B2RCQ3|Q5BJD8	Nonsense_Mutation	SNP	ENST00000322536.3	0	1	hg19	c.1653C>A	CCDS8342.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.993494	0.97184	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	-1.34	0.09143	4.9	-1.34	0.09143	.	0.632853	0.16915	N	0.194340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.0433	5.9796	0.19399	0.0:0.4737:0.1559:0.3705	.	.	.	.	X	551;457;551	.	ENSP00000314348:Y551X	Y	+	3	2	2	DDX10	108099087	108099087	0.936000	0.31750	0.987000	0.45799	0.852000	0.48524	0.575000	0.23729	-0.070000	0.12908	0.484000	0.47621	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_004398			39	39		175	173	1		1	1		0	0	44	0		1	9.998974e-01	0	2	0	64	0	39	175
MUC2	4583	broad.mit.edu	37	11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1335					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572																																						ENST00000441003.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				102						c.(4003-4005)gAc>gGc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						91.0	97.0	95.0					11																	1092185		2127	4225	6352	SO:0001583	missense	4583	0	0					g.chr11:1092185A>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4004A>G	chr11.hg19:g.1092185A>G	ENSP00000415183:p.Asp1335Gly	0					MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000333592.6_5'Flank	p.D1335G	NM_002457.2	NP_002448.2	1	2	3	1.993097	Q02817	MUC2_HUMAN		30	4031	+		all_cancers(49;1.08e-07)|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;0.191)	Q14878	Missense_Mutation	SNP	ENST00000441003.2	1	1	hg19	c.4004A>G		1	.	.	.	.	.	.	.	.	.	.	a	10.11	1.261494	0.23051	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.18960	2.4;2.18;2.18	3.03	0.12	0.14691	3.03	0.12	0.14691	.	37.455900	0.00839	U	0.001722	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	B	0.28584	0.216	B	0.32289	0.143	T	0.26710	-1.0095	10	0.19147	T	0.46	.	9.2973	0.37824	0.6552:0.3447:0.0:0.0	.	1335	E7EUV1	.	G	1335;1336;1	ENSP00000415183:D1335G;ENSP00000351956:D1336G;ENSP00000354885:D1G	ENSP00000351956:D1336G	D	+	2	0	0	MUC2	1082185	1082185	0.756000	0.28383	0.004000	0.12327	0.108000	0.19459	4.169000	0.58223	0.249000	0.21456	0.382000	0.24955	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-15.144060	1	0.170000	NM_002457			25	24		125	124	1		1			0	0	26	0		9.999999e-01	0	0	0	0	0	0	25	125
DDX10	1662	broad.mit.edu	37	11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000322536.3	+	14	2123	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000526794.1_Missense_Mutation_p.K665R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	665					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)			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)		TCCAGCATCAAGAAAAAAATG	0.323			T	NUP98	AML*																																	ENST00000322536.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				L	L	NUP98		AML*		0				27						c.(1993-1995)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64.0	70.0	68.0					11																	108709201		2201	4297	6498	SO:0001583	missense	1662	0	0					g.chr11:108709201A>G	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.1994A>G	chr11.hg19:g.108709201A>G	ENSP00000314348:p.Lys665Arg	0					DDX10_ENST00000526794.1_Missense_Mutation_p.K665R	p.K665R	NM_004398.2	NP_004389.2	1	2	3	1.991067	Q13206	DDX10_HUMAN		14	2123	+		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)	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	1	1	hg19	c.1994A>G	CCDS8342.1	1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538758	0.65085	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46819	0.86;0.87	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.243433	0.35615	N	0.003099	T	0.56558	0.1993	M	0.64404	1.975	0.45318	D	0.998318	D;P	0.56521	0.976;0.877	P;B	0.52598	0.703;0.197	T	0.58584	-0.7611	10	0.48119	T	0.1	-11.3921	13.3722	0.60719	1.0:0.0:0.0:0.0	.	665;665	Q13206;E9PIF2	DDX10_HUMAN;.	R	665;571;665	ENSP00000314348:K665R;ENSP00000432032:K665R	ENSP00000314348:K665R	K	+	2	0	0	DDX10	108214411	108214411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.130000	0.57964	2.176000	0.68965	0.528000	0.53228	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_004398			63	62		259	253	1		1	0		0	0	79	0		1	9.999528e-01	0	1	0	62	0	63	259
C11orf87	399947	broad.mit.edu	37	11	109294503	109294503	+	Silent	SNP	G	G	T	rs558968039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637																																						ENST00000327419.6	1.000000	0.720000	1	8.900000e-01	0.990000	0.962992	0.990000	1.000000																										0				17						c.(142-144)acG>acT		chromosome 11 open reading frame 87							128.0	101.0	110.0					11																	109294503		2201	4298	6499	SO:0001819	synonymous_variant	399947	0	0					g.chr11:109294503G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.144G>T	chr11.hg19:g.109294503G>T		0					RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.T48T	NM_207645.3	NP_997528.2	1	2	3	1.991067	Q6NUJ2	CK087_HUMAN		2	547	+			B4E169	Silent	SNP	ENST00000327419.6	1	1	hg19	c.144G>T	CCDS31672.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_207645			23	23		225	223	0		1			0	0	46	0		9.999995e-01	0	0	0	0	0	0	23	225
ZC3H12C	85463	broad.mit.edu	37	11	110007429	110007429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000278590.3	+	2	114	c.63C>T	c.(61-63)agC>agT	p.S21S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	21							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			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)		GAAAAAACAGCAAAGTGGAGT	0.408																																						ENST00000278590.3	1.000000	0.270000	6.500000e-01	3.700000e-01	0.490000	0.520340	0.490000	0.470000																										0				37						c.(61-63)agC>agT		zinc finger CCCH-type containing 12C							91.0	91.0	91.0					11																	110007429		1965	4147	6112	SO:0001819	synonymous_variant	85463	0	0					g.chr11:110007429C>T		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.63C>T	chr11.hg19:g.110007429C>T		0					ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	p.S21S	NM_033390.1	NP_203748.1	1	2	3	1.991067	Q9C0D7	ZC12C_HUMAN		2	114	+		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)	B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	1	1	hg19	c.63C>T	CCDS44727.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-13.763530	1	0.170000	NM_033390			13	13		310	305	0		1	0		0	0	60	0		9.995121e-01	8.151244e-02	0	0	0	11	0	13	310
ZC3H12C	85463	broad.mit.edu	37	11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000278590.3	+	6	2204	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	718							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			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)		GTGGGCGCCCGGTCCAGCTGT	0.592																																						ENST00000278590.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2152-2154)cGg>cAg		zinc finger CCCH-type containing 12C							141.0	161.0	154.0					11																	110035963		2144	4233	6377	SO:0001583	missense	85463	0	0					g.chr11:110035963G>A		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.2153G>A	chr11.hg19:g.110035963G>A	ENSP00000278590:p.Arg718Gln	0					ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q	p.R718Q	NM_033390.1	NP_203748.1	1	2	3	1.991067	Q9C0D7	ZC12C_HUMAN		6	2204	+		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)	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	1	1	hg19	c.2153G>A	CCDS44727.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909367	0.92107	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37584	1.19;1.19;1.21	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.249928	0.40144	N	0.001167	T	0.60932	0.2307	M	0.68593	2.085	0.43703	D	0.996161	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.978;0.978	T	0.55617	-0.8113	10	0.44086	T	0.13	-20.721	20.3591	0.98849	0.0:0.0:1.0:0.0	.	719;718;718	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	718;719;687	ENSP00000278590:R718Q;ENSP00000431821:R719Q;ENSP00000413094:R687Q	ENSP00000278590:R718Q	R	+	2	0	0	ZC3H12C	109541173	109541173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.331000	0.72929	2.816000	0.96949	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	0	1		2	2	2	1		1	0	220		220	217	1	2.060000	-3.178719	1	0.170000	NM_033390			243	236		1031	1009	1		1	0		1	0	220	0		1	4.702433e-01	0	0	0	8	0	243	1031
RDX	5962	broad.mit.edu	37	11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000343115.4	-	9	1221	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	301					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(901-903)gAa>gGa		radixin							124.0	108.0	113.0					11																	110124728		2201	4298	6499	SO:0001583	missense	5962	0	0					g.chr11:110124728T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.902A>G	chr11.hg19:g.110124728T>C	ENSP00000342830:p.Glu301Gly	0					RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	p.E301G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	1	2	3	1.991067	P35241	RADI_HUMAN		9	1221	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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)	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	1	1	hg19	c.902A>G	CCDS8343.1	1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661312	0.67700	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.974	D	0.94672	0.7857	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	165;301;301	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	G	301;301;301;301;165	ENSP00000432112:E301G;ENSP00000384136:E301G;ENSP00000342830:E301G;ENSP00000445826:E165G	ENSP00000342830:E301G	E	-	2	0	0	RDX	109629938	109629938	1.000000	0.71417	0.689000	0.30133	0.065000	0.16274	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_002906			66	65		316	310	1		1	1		0	0	69	0		1	1	0	23	0	135	0	66	316
MUC2	4583	broad.mit.edu	37	11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4985					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607																																						ENST00000441003.2	1.000000	0.680000	1	9.200000e-01	0.990000	0.966258	0.990000	1.000000																										0				102						c.(7867-7869)Gag>Aag		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						52.0	59.0	57.0					11																	1102483		2069	4191	6260	SO:0001583	missense	4583	0	0					g.chr11:1102483G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7867G>A	chr11.hg19:g.1102483G>A	ENSP00000415183:p.Glu2623Lys	0						p.E2623K	NM_002457.2	NP_002448.2	1	2	3	1.993097	Q02817	MUC2_HUMAN		45	7894	+		all_cancers(49;1.08e-07)|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;0.191)	Q14878	Missense_Mutation	SNP	ENST00000441003.2	0	1	hg19	c.7867G>A		1	.	.	.	.	.	.	.	.	.	.	G	4.631	0.117264	0.08881	.	.	ENSG00000198788	ENST00000441003	T	0.66815	-0.23	3.78	1.65	0.23941	3.78	1.65	0.23941	.	.	.	.	.	T	0.62708	0.2450	M	0.76574	2.34	0.19300	N	0.999975	P	0.47762	0.9	B	0.39419	0.299	T	0.53415	-0.8442	9	0.25751	T	0.34	.	11.85	0.52405	0.0:0.3331:0.6669:0.0	.	2623	E7EUV1	.	K	2623	ENSP00000415183:E2623K	ENSP00000415183:E2623K	E	+	1	0	0	MUC2	1092483	1092483	0.986000	0.35501	0.015000	0.15790	0.025000	0.11179	1.857000	0.39399	0.676000	0.31285	-0.304000	0.09214	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-18.707520	1	0.170000	NM_002457			12	12		104	103	1		1			0	0	26	0		9.992468e-01	0	0	0	0	0	0	12	104
RDX	5962	broad.mit.edu	37	11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000343115.4	-	7	965	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	216	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(646-648)Ttg>Gtg		radixin							115.0	117.0	116.0					11																	110128544		2201	4298	6499	SO:0001583	missense	5962	0	0					g.chr11:110128544A>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.646T>G	chr11.hg19:g.110128544A>C	ENSP00000342830:p.Leu216Val	0					RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	p.L216V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	1	2	3	1.991067	P35241	RADI_HUMAN		7	965	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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)	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	1	1	hg19	c.646T>G	CCDS8343.1	1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871122	0.51695	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.32	1.79	0.24919	5.32	1.79	0.24919	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.91019	0.7175	L	0.56124	1.755	0.58432	D	0.999992	B;D;B	0.67145	0.129;0.996;0.037	B;D;P	0.91635	0.099;0.999;0.461	D	0.87955	0.2726	10	0.52906	T	0.07	.	8.0771	0.30722	0.6908:0.0:0.3092:0.0	.	80;216;216	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	216;216;216;216;80;35	ENSP00000432112:L216V;ENSP00000384136:L216V;ENSP00000342830:L216V;ENSP00000445826:L80V;ENSP00000431560:L35V	ENSP00000342830:L216V	L	-	1	2	2	RDX	109633754	109633754	0.982000	0.34865	0.995000	0.50966	0.988000	0.76386	1.566000	0.36396	0.056000	0.16144	-0.280000	0.10049	TTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_002906			112	110		454	447	1		1	1		0	0	127	0		1	1	0	27	0	126	0	112	454
MUC2	4583	broad.mit.edu	37	11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5158					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701																																						ENST00000441003.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				102						c.(8386-8388)gTc>gCc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						16.0	20.0	19.0					11																	1104196		1942	4126	6068	SO:0001583	missense	4583	0	0					g.chr11:1104196T>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8387T>C	chr11.hg19:g.1104196T>C	ENSP00000415183:p.Val2796Ala	0						p.V2796A	NM_002457.2	NP_002448.2	1	2	3	1.993097	Q02817	MUC2_HUMAN		49	8414	+		all_cancers(49;1.08e-07)|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;0.191)	Q14878	Missense_Mutation	SNP	ENST00000441003.2	1	1	hg19	c.8387T>C		1	.	.	.	.	.	.	.	.	.	.	T	6.582	0.475700	0.12521	.	.	ENSG00000198788	ENST00000441003	T	0.11169	2.8	3.1	-6.21	0.02065	3.1	-6.21	0.02065	.	.	.	.	.	T	0.04497	0.0123	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	9	0.08599	T	0.76	.	7.2697	0.26250	0.2047:0.5492:0.0:0.2461	.	2796	E7EUV1	.	A	2796	ENSP00000415183:V2796A	ENSP00000415183:V2796A	V	+	2	0	0	MUC2	1094196	1094196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.973000	0.01500	-1.574000	0.01657	-0.589000	0.04120	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_002457			23	22		99	97	1		1			0	0	29	0		9.999996e-01	0	0	0	0	0	0	23	99
FDX1	2230	broad.mit.edu	37	11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	114	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438																																						ENST00000260270.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(340-342)Acc>Gcc		ferredoxin 1	Mitotane(DB00648)						327.0	271.0	290.0					11																	110327671		2201	4298	6499	SO:0001583	missense	2230	0	0					g.chr11:110327671A>G	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.340A>G	chr11.hg19:g.110327671A>G	ENSP00000260270:p.Thr114Ala	0						p.T114A	NM_004109.4	NP_004100.1	1	2	3	1.991067	P10109	ADX_HUMAN		3	578	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	1	1	hg19	c.340A>G	CCDS8344.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409904	0.83340	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	15.2051	0.73173	1.0:0.0:0.0:0.0	.	114	P10109	ADX_HUMAN	A	114	.	ENSP00000260270:T114A	T	+	1	0	0	FDX1	109832881	109832881	1.000000	0.71417	0.868000	0.34077	0.741000	0.42261	7.136000	0.77285	2.075000	0.62263	0.459000	0.35465	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	1	0	1		2	2	2	0		0	0	183		183	182	1	2.060000	-20.000000	1	0.170000	NM_004109			206	200		896	863	1		1	1		0	0	183	0		1	1	0	73	0	199	0	206	896
ARHGAP20	57569	broad.mit.edu	37	11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000260283.4	-	16	2923	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	880					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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)		ATCCTCCTCTCCATGCAAGAG	0.453																																						ENST00000260283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2638-2640)gGa>gTa		Rho GTPase activating protein 20							136.0	134.0	134.0					11																	110451031		2201	4298	6499	SO:0001583	missense	57569	0	0					g.chr11:110451031C>A	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.2639G>T	chr11.hg19:g.110451031C>A	ENSP00000260283:p.Gly880Val	0					ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V	p.G880V	NM_020809.3	NP_065860.2	1	2	3	1.991067	Q9P2F6	RHG20_HUMAN		16	2923	-		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)	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	1	1	hg19	c.2639G>T	CCDS31673.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118057	0.37339	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08984	3.03;3.04;3.07;3.03;3.04;3.04;3.04	5.14	2.18	0.27775	5.14	2.18	0.27775	.	0.614672	0.15386	N	0.265082	T	0.16599	0.0399	M	0.65975	2.015	0.22001	N	0.999421	D;D;D	0.69078	0.997;0.996;0.997	D;P;D	0.64595	0.927;0.847;0.927	T	0.17837	-1.0356	10	0.27082	T	0.32	.	1.1436	0.01770	0.1462:0.3626:0.1419:0.3493	.	854;880;857	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	880;854;423;857;844;854;844	ENSP00000260283:G880V;ENSP00000349660:G854V;ENSP00000437905:G423V;ENSP00000432076:G857V;ENSP00000436319:G844V;ENSP00000436522:G854V;ENSP00000431399:G844V	ENSP00000260283:G880V	G	-	2	0	0	ARHGAP20	109956241	109956241	0.065000	0.20965	0.069000	0.20011	0.962000	0.63368	0.363000	0.20301	0.304000	0.22809	-1.105000	0.02106	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-3.790286	1	0.170000	NM_020809			168	166		639	631	1		1	0		0	0	130	0		1	3.651748e-01	0	0	0	6	0	168	639
ARHGAP20	57569	broad.mit.edu	37	11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000260283.4	-	14	1833	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	517	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)			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)		GGCCAAAGAATACTTGGAGCG	0.418																																						ENST00000260283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1549-1551)Att>Gtt		Rho GTPase activating protein 20							130.0	115.0	120.0					11																	110454328		2201	4298	6499	SO:0001583	missense	57569	0	0					g.chr11:110454328T>C	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.1549A>G	chr11.hg19:g.110454328T>C	ENSP00000260283:p.Ile517Val	0					ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V	p.I517V	NM_020809.3	NP_065860.2	1	2	3	1.991067	Q9P2F6	RHG20_HUMAN		14	1833	-		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)	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	1	1	hg19	c.1549A>G	CCDS31673.1	1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435130	0.43224	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.85;0.84;0.84;0.84;0.84	5.78	0.592	0.17471	5.78	0.592	0.17471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.330773	0.30043	N	0.010550	T	0.42154	0.1190	L	0.46819	1.47	0.27901	N	0.938968	B;B;B	0.33044	0.395;0.281;0.238	B;B;B	0.43360	0.293;0.417;0.341	T	0.40924	-0.9537	10	0.59425	D	0.04	.	3.8261	0.08855	0.1027:0.1344:0.444:0.3189	.	491;517;494	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	517;491;60;494;481;491;481	ENSP00000260283:I517V;ENSP00000349660:I491V;ENSP00000437905:I60V;ENSP00000432076:I494V;ENSP00000436319:I481V;ENSP00000436522:I491V;ENSP00000431399:I481V	ENSP00000260283:I517V	I	-	1	0	0	ARHGAP20	109959538	109959538	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	0.963000	0.29293	-0.073000	0.12842	-0.326000	0.08463	ATT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_020809			38	37		150	145	1		1	0		0	0	23	0		1	1.904789e-01	0	0	0	4	0	38	150
ARHGAP20	57569	broad.mit.edu	37	11	110501445	110501445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	87	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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)		CCATCAATCAGCAGAGTCCTA	0.463																																						ENST00000260283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(259-261)Ctg>Ttg		Rho GTPase activating protein 20							116.0	114.0	115.0					11																	110501445		2201	4298	6499	SO:0001819	synonymous_variant	57569	0	0					g.chr11:110501445G>A	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.259C>T	chr11.hg19:g.110501445G>A		0					ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	p.L87L	NM_020809.3	NP_065860.2	1	2	3	1.991067	Q9P2F6	RHG20_HUMAN		4	543	-		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)	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	1	1	hg19	c.259C>T	CCDS31673.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1		2	2	2	0		0	0	94		94	90	1	2.060000	-20.000000	1	0.170000	NM_020809			84	82		402	395	1		1	0		0	0	94	0		1	8.040549e-02	0	0	0	3	0	84	402
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000375618.4	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	BTG4_ENST00000356018.2_5'Flank|RP11-794P6.6_ENST00000530283.1_RNA|BTG4_ENST00000525791.1_5'Flank|C11orf88_ENST00000332814.6_Silent_p.R68R|MIR34B_ENST00000385076.1_RNA|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375618.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(202-204)cgG>cgT		chromosome 11 open reading frame 88							36.0	42.0	40.0					11																	111385713		2152	4277	6429	SO:0001819	synonymous_variant	399949	0	0					g.chr11:111385713G>T	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.204G>T	chr11.hg19:g.111385713G>T		0		OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	C11orf88_ENST00000332814.6_Silent_p.R68R|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA	p.R68R	NM_001100388.1	NP_001093858.1	1	2	3	1.991067	Q6PI97	CK088_HUMAN		1	204	+			E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	1	1	hg19	c.204G>T	CCDS41713.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.452364	1	0.170000	NM_001100388			47	45		210	208	1		1	0		0	0	54	0		1	0	0	0	0	1	0	47	210
SIK2	23235	broad.mit.edu	37	11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	272					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)			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						TAAATGGATGCTCATAGAAGT	0.463																																						ENST00000304987.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(814-816)Ctc>Atc		salt-inducible kinase 2							117.0	103.0	108.0					11																	111574013		2201	4297	6498	SO:0001583	missense	23235	0	0					g.chr11:111574013C>A	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.814C>A	chr11.hg19:g.111574013C>A	ENSP00000305976:p.Leu272Ile	0						p.L272I	NM_015191.1	NP_056006.1	1	2	3	1.991067	Q9H0K1	SIK2_HUMAN		7	987	+			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	1	1	hg19	c.814C>A	CCDS8347.1	1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250836	0.39797	.	.	ENSG00000170145	ENST00000304987	T	0.25250	1.81	5.57	4.65	0.58169	5.57	4.65	0.58169	Protein kinase-like domain (1);	0.215894	0.42548	D	0.000682	T	0.16685	0.0401	L	0.40543	1.245	0.43091	D	0.994769	B	0.33135	0.399	B	0.25614	0.062	T	0.04427	-1.0952	10	0.22109	T	0.4	.	8.6612	0.34093	0.1483:0.7728:0.0:0.0789	.	272	Q9H0K1	SIK2_HUMAN	I	272	ENSP00000305976:L272I	ENSP00000305976:L272I	L	+	1	0	0	SIK2	111079223	111079223	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	1.535000	0.36061	2.627000	0.88993	0.557000	0.71058	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_015191			61	61		222	222	1		1	1		0	0	70	0		1	9.998849e-01	0	8	0	44	0	61	222
PPP2R1B	5519	broad.mit.edu	37	11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000527614.1	-	12	1529	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	488					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388																																						ENST00000527614.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1462-1464)gaG>gaT		protein phosphatase 2, regulatory subunit A, beta							166.0	152.0	157.0					11																	111614190		2201	4297	6498	SO:0001583	missense	5519	0	0					g.chr11:111614190C>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1464G>T	chr11.hg19:g.111614190C>A	ENSP00000437193:p.Glu488Asp	0					PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D	p.E488D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	1	2	3	1.991067	P30154	2AAB_HUMAN		12	1529	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	1	1	hg19	c.1464G>T	CCDS8349.1	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860498	0.32884	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	6.02	-0.582	0.11709	6.02	-0.582	0.11709	Armadillo-like helical (1);Armadillo-type fold (1);	0.231591	0.45867	N	0.000338	T	0.15998	0.0385	N	0.20881	0.62	0.40696	D	0.982447	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.005;0.0;0.0;0.0;0.001	T	0.09443	-1.0674	10	0.19590	T	0.45	-8.1876	1.1121	0.01706	0.132:0.3117:0.2574:0.299	.	361;443;327;424;488;488	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	D	488;361;424;488;327;443;361	ENSP00000311344:E488D;ENSP00000410671:E424D;ENSP00000437193:E488D;ENSP00000415759:E327D;ENSP00000343317:E443D;ENSP00000376775:E361D	ENSP00000311344:E488D	E	-	3	2	2	PPP2R1B	111119400	111119400	0.976000	0.34144	0.996000	0.52242	0.998000	0.95712	0.166000	0.16583	-0.066000	0.12998	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_002716			100	99		473	460	1		1	1		0	0	129	0		1	9.999734e-01	0	17	0	56	0	100	473
PPP2R1B	5519	broad.mit.edu	37	11	111622994	111622994	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000527614.1	-	10	1292	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000341980.6_Silent_p.I364I|PPP2R1B_ENST00000427203.2_Silent_p.I248I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	409					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473																																						ENST00000527614.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1225-1227)atC>atT		protein phosphatase 2, regulatory subunit A, beta							115.0	103.0	107.0					11																	111622994		2201	4297	6498	SO:0001819	synonymous_variant	5519	0	0					g.chr11:111622994G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1227C>T	chr11.hg19:g.111622994G>A		0					PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000341980.6_Silent_p.I364I	p.I409I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	1	2	3	1.991067	P30154	2AAB_HUMAN		10	1292	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	1	1	hg19	c.1227C>T	CCDS8349.1	1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.216002	0.22373	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.57	3.7	0.42460	5.57	3.7	0.42460	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-5.2892	10.441	0.44466	0.1598:0.0:0.8402:0.0	.	.	.	.	S	110	.	.	P	-	1	0	0	PPP2R1B	111128204	111128204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.189000	0.42621	0.818000	0.34468	-0.149000	0.13747	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000	NM_002716			104	100		411	403	1		1	1		0	0	118	0		1	9.999847e-01	0	18	0	47	0	104	411
ALG9	79796	broad.mit.edu	37	11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000531154.1	-	10	1100	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000398006.2_Missense_Mutation_p.L210F|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	381					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393																																						ENST00000531154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(628-630)Ctc>Ttc		ALG9, alpha-1,2-mannosyltransferase							100.0	107.0	105.0					11																	111711410		1903	4119	6022	SO:0001583	missense	79796	0	0					g.chr11:111711410G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.628C>T	chr11.hg19:g.111711410G>A	ENSP00000435517:p.Leu210Phe	0					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	p.L210F	NM_024740.2	NP_079016.2	1	2	3	1.991067	Q9H6U8	ALG9_HUMAN		10	1100	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	1	1	hg19	c.628C>T	CCDS41714.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.118509	0.94385	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	1.0;0.981;1.0;0.937	D;D;D;P	0.87578	0.998;0.948;0.994;0.896	T	0.82975	-0.0190	10	0.56958	D	0.05	-18.0339	19.5951	0.95533	0.0:0.0:1.0:0.0	.	210;381;614;381	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	F	210;210;614	ENSP00000435517:L210F;ENSP00000381090:L210F	ENSP00000381090:L210F	L	-	1	0	0	ALG9	111216620	111216620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_024740			96	95		392	382	1		1	1		0	0	121	0		1	9.999997e-01	0	22	0	68	0	96	392
ALG9	79796	broad.mit.edu	37	11	111724395	111724395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000531154.1	-	7	725	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000398006.2_Silent_p.L85L|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	256					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378																																						ENST00000531154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(253-255)Ctg>Ttg		ALG9, alpha-1,2-mannosyltransferase							115.0	109.0	111.0					11																	111724395		1843	4086	5929	SO:0001819	synonymous_variant	79796	0	0					g.chr11:111724395G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.253C>T	chr11.hg19:g.111724395G>A		0					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR	p.L85L	NM_024740.2	NP_079016.2	1	2	3	1.991067	Q9H6U8	ALG9_HUMAN		7	725	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	1	1	hg19	c.253C>T	CCDS41714.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_024740			56	53		302	292	1		1	1		0	0	106	0		1	9.989943e-01	0	9	0	49	0	56	302
C11orf1	64776	broad.mit.edu	37	11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000260276.3	+	2	395	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|ALG9_ENST00000524880.1_5'Flank|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	20						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428																																						ENST00000260276.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(58-60)Gcc>Acc		chromosome 11 open reading frame 1		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	87.0	74.0	78.0		58	-5.8	0.0	11	dbSNP_134	78	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf1	NM_022761.2	58	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	benign	20/151	111753104	2,12994	2201	4297	6498	SO:0001583	missense	64776	8	121412	38				g.chr11:111753104G>A	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.58G>A	chr11.hg19:g.111753104G>A	ENSP00000260276:p.Ala20Thr	0					C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|ALG9_ENST00000524880.1_5'Flank|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	p.A20T	NM_022761.2	NP_073598.1	1	2	3	1.991067	Q9H5F2	CK001_HUMAN		2	395	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	1	1	hg19	c.58G>A	CCDS8350.1	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375681	0.42105	2.27E-4	1.16E-4	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	-5.8	0.02347	5.33	-5.8	0.02347	.	1.066680	0.07277	N	0.870122	T	0.10208	0.0250	N	0.16478	0.41	0.09310	N	1	B;B	0.22346	0.068;0.004	B;B	0.15484	0.013;0.002	T	0.29305	-1.0016	10	0.24483	T	0.36	3.966	1.2162	0.01915	0.361:0.0899:0.1949:0.3542	.	60;20	E9PMC1;Q9H5F2	.;CK001_HUMAN	T	20;20;36;60	ENSP00000260276:A20T;ENSP00000435864:A20T;ENSP00000432128:A36T;ENSP00000431180:A60T	ENSP00000260276:A20T	A	+	1	0	0	C11orf1	111258314	111258314	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-1.306000	0.02735	-0.812000	0.04363	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_022761			46	44		201	196	1		1	1		0	0	68	0		1	9.999999e-01	0	44	0	73	0	46	201
DIXDC1	85458	broad.mit.edu	37	11	111866132	111866132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000440460.2	+	17	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	511					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)			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)		CACAGACCAGCGACCTGCAGC	0.527																																						ENST00000440460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1528-1530)agC>agT		DIX domain containing 1							58.0	60.0	59.0					11																	111866132		2112	4221	6333	SO:0001819	synonymous_variant	85458	0	0					g.chr11:111866132C>T	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.1530C>T	chr11.hg19:g.111866132C>T		0					DIXDC1_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	p.S510S	NM_001037954.2	NP_001033043.1	1	2	3	1.991067	Q155Q3	DIXC1_HUMAN		17	1827	+		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)	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	1	1	hg19	c.1530C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_001037954			47	46		233	226	1		1	1		0	0	62	0		1	9.962231e-01	0	2	0	43	0	47	233
DIXDC1	85458	broad.mit.edu	37	11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000440460.2	+	17	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	524					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)			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)		CGCAGCCTGCGCAACAGCTTC	0.572																																						ENST00000440460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1567-1569)cGc>cAc		DIX domain containing 1							68.0	71.0	70.0					11																	111866170		2131	4234	6365	SO:0001583	missense	85458	1	121144	26				g.chr11:111866170G>A	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.1568G>A	chr11.hg19:g.111866170G>A	ENSP00000394352:p.Arg523His	0					DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	p.R523H	NM_001037954.2	NP_001033043.1	1	2	3	1.991067	Q155Q3	DIXC1_HUMAN		17	1865	+		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)	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	1	1	hg19	c.1568G>A		1	.	.	.	.	.	.	.	.	.	.	G	36	5.706164	0.96812	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.25749	1.78;1.78	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.54702	-0.8254	9	0.52906	T	0.07	-37.8064	19.8479	0.96722	0.0:0.0:1.0:0.0	.	189;312;524	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	H	523;312	ENSP00000394352:R523H;ENSP00000314068:R312H	ENSP00000314068:R312H	R	+	2	0	0	DIXDC1	111371380	111371380	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.205000	0.95048	2.681000	0.91329	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001037954			53	52		272	266	1		1	1		0	0	66	0		1	9.896997e-01	0	2	0	37	0	53	272
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.S202L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					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)			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)		GCCACTGCTTCGCCACCTACA	0.532																																						ENST00000280346.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(604-606)tCg>tTg		dihydrolipoamide S-acetyltransferase							87.0	86.0	87.0					11																	111899614		2201	4297	6498	SO:0001583	missense	1737	3	121412	40				g.chr11:111899614C>T	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.605C>T	chr11.hg19:g.111899614C>T	ENSP00000280346:p.Ser202Leu	0					DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.S202L	p.S202L	NM_001931.4	NP_001922.2	1	2	3	1.991067	P10515	ODP2_HUMAN		4	1264	+		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)	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	1	1	hg19	c.605C>T	CCDS8354.1	1	.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.16897	2.31;2.41	5.4	2.49	0.30216	5.4	2.49	0.30216	.	1.048000	0.07534	N	0.912785	T	0.12860	0.0312	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.22541	0.071;0.002	B;B	0.11329	0.006;0.0	T	0.32375	-0.9909	10	0.31617	T	0.26	2.3041	10.952	0.47334	0.0:0.7928:0.0:0.2072	.	202;202	E9PEJ4;P10515	.;ODP2_HUMAN	L	202;170;202	ENSP00000280346:S202L;ENSP00000376771:S202L	ENSP00000280346:S202L	S	+	2	0	0	DLAT	111404824	111404824	0.173000	0.23056	0.000000	0.03702	0.050000	0.14768	2.911000	0.48774	0.660000	0.30964	-0.225000	0.12378	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.978651	1	0.170000	NM_001931			125	122		464	451	1		1	0		0	0	124	0		1	1	0	1	0	111	0	125	464
DLAT	1737	broad.mit.edu	37	11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000280346.6	+	7	1668	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	DLAT_ENST00000537636.1_Missense_Mutation_p.A108T|DLAT_ENST00000393051.1_Missense_Mutation_p.A232T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	337					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)			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)		CCAGCCTTTAGCTCCTACACC	0.453																																						ENST00000280346.6	1.000000	0.230000	4.100000e-01	2.800000e-01	0.340000	0.370321	0.340000	0.330000																										0				22						c.(1009-1011)Gct>Act		dihydrolipoamide S-acetyltransferase							135.0	144.0	141.0					11																	111910001		2201	4297	6498	SO:0001583	missense	1737	0	0					g.chr11:111910001G>A	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.1009G>A	chr11.hg19:g.111910001G>A	ENSP00000280346:p.Ala337Thr	0					DLAT_ENST00000537636.1_Missense_Mutation_p.A108T|DLAT_ENST00000393051.1_Missense_Mutation_p.A232T	p.A337T	NM_001931.4	NP_001922.2	1	2	3	1.991067	P10515	ODP2_HUMAN		7	1668	+		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)	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	1	1	hg19	c.1009G>A	CCDS8354.1	0	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622404	0.28889	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.26810	2.07;2.24;2.11;1.71	6.17	-2.07	0.07276	6.17	-2.07	0.07276	.	0.647368	0.16044	N	0.232293	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.15235	-1.0444	10	0.35671	T	0.21	0.4748	2.7461	0.05268	0.2279:0.2008:0.468:0.1033	.	337;232;337	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	337;232;169;108	ENSP00000280346:A337T;ENSP00000376771:A232T;ENSP00000433432:A169T;ENSP00000442427:A108T	ENSP00000280346:A337T	A	+	1	0	0	DLAT	111415211	111415211	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.380000	0.20602	-0.023000	0.13963	-0.150000	0.13652	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	0	0	1		2	2	2	0		0	0	201		201	198	1	2.060000	-2.987072	1	0.170000	NM_001931			33	33		1123	1107	0		1	0		0	0	201	0		1	8.345783e-01	0	0	0	113	0	33	1123
DLAT	1737	broad.mit.edu	37	11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000280346.6	+	10	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*|DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	435	Catalytic. {ECO:0000250}.				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)			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)		TATTGCACAGCGATTAATGCA	0.333																																						ENST00000280346.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				22						c.(1303-1305)Cga>Tga		dihydrolipoamide S-acetyltransferase							84.0	76.0	79.0					11																	111916599		2201	4296	6497	SO:0001587	stop_gained	1737	1	121396	24				g.chr11:111916599C>T	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.1303C>T	chr11.hg19:g.111916599C>T	ENSP00000280346:p.Arg435*	0					DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*|DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*	p.R435*	NM_001931.4	NP_001922.2	1	2	3	1.991067	P10515	ODP2_HUMAN		10	1962	+		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)	Q16783|Q53EP3	Nonsense_Mutation	SNP	ENST00000280346.6	0	1	hg19	c.1303C>T	CCDS8354.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.916536	0.97099	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	2.82	0.32997	5.78	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5003	9.6723	0.40019	0.3675:0.5686:0.0:0.064	.	.	.	.	X	435;330;267;206	.	ENSP00000280346:R435X	R	+	1	2	2	DLAT	111421809	111421809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.463000	0.45058	0.323000	0.23307	-0.140000	0.14226	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.278025	1	0.170000	NM_001931			30	30		153	151	1		1	1		0	0	29	0		1	9.996311e-01	0	3	0	63	0	30	153
DLAT	1737	broad.mit.edu	37	11	111930659	111930659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	ENST00000280346.6	+	12	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_ENST00000537636.1_Missense_Mutation_p.S287N|DLAT_ENST00000393051.1_Missense_Mutation_p.S411N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	516	Catalytic. {ECO:0000250}.				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)			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)		GTTGCGGTCAGTACTCCTGCA	0.348																																						ENST00000280346.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1546-1548)aGt>aAt		dihydrolipoamide S-acetyltransferase							95.0	72.0	80.0					11																	111930659		2201	4297	6498	SO:0001583	missense	1737	0	0					g.chr11:111930659G>A	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.1547G>A	chr11.hg19:g.111930659G>A	ENSP00000280346:p.Ser516Asn	0					DLAT_ENST00000537636.1_Missense_Mutation_p.S287N|DLAT_ENST00000393051.1_Missense_Mutation_p.S411N	p.S516N	NM_001931.4	NP_001922.2	1	2	3	1.991067	P10515	ODP2_HUMAN		12	2206	+		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)	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	0	1	hg19	c.1547G>A	CCDS8354.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215917	0.79352	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.07	6.07	0.98685	6.07	6.07	0.98685	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.83223	2.63	0.80722	D	1	P;D;P	0.57571	0.84;0.98;0.84	P;D;P	0.78314	0.886;0.991;0.886	T	0.70695	-0.4801	10	0.59425	D	0.04	-15.1278	20.6593	0.99626	0.0:0.0:1.0:0.0	.	516;411;516	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	N	516;411;348;287	ENSP00000280346:S516N;ENSP00000376771:S411N;ENSP00000433432:S348N;ENSP00000442427:S287N	ENSP00000280346:S516N	S	+	2	0	0	DLAT	111435869	111435869	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.430000	0.73391	2.885000	0.99019	0.655000	0.94253	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_001931			42	40		167	164	0		1	1		0	0	40	0		1	9.999983e-01	0	2	0	83	0	42	167
PIH1D2	120379	broad.mit.edu	37	11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000280350.4	-	4	658	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000530641.1_Missense_Mutation_p.H146Y|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343																																						ENST00000280350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(436-438)Cac>Tac		PIH1 domain containing 2							175.0	172.0	173.0					11																	111941873		2201	4297	6498	SO:0001583	missense	120379	0	0					g.chr11:111941873G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.436C>T	chr11.hg19:g.111941873G>A	ENSP00000280350:p.His146Tyr	0					PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR	p.H146Y	NM_138789.3	NP_620144.1	1	2	3	1.991067	Q8WWB5	PIHD2_HUMAN		4	658	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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)	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	1	1	hg19	c.436C>T	CCDS8355.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368591|3.368591	0.61624|0.61624	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25;2.25|.	5.9|5.9	4.98|4.98	0.66077|0.66077	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.628571|.	0.18277|.	N|.	0.146140|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.72479|0.72479	2.2|2.2	0.41608|0.41608	D|D	0.988891|0.988891	D;D;D|.	0.57571|.	0.964;0.98;0.97|.	P;P;P|.	0.51516|.	0.672;0.672;0.663|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.56958|.	D|.	0.05|.	-1.1106|-1.1106	15.6913|15.6913	0.77457|0.77457	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	146;146;146|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Y|I	146;146;146;146;146;111|101	ENSP00000434275:H146Y;ENSP00000388209:H146Y;ENSP00000431841:H146Y;ENSP00000280350:H146Y;ENSP00000431147:H146Y;ENSP00000433297:H111Y|.	ENSP00000280350:H146Y|.	H|T	-|-	1|2	0|0	0|0	PIH1D2|PIH1D2	111447083|111447083	111447083|111447083	0.694000|0.694000	0.27738|0.27738	0.950000|0.950000	0.38849|0.38849	0.832000|0.832000	0.47134|0.47134	1.479000|1.479000	0.35453|0.35453	1.467000|1.467000	0.48044|0.48044	0.591000|0.591000	0.81541|0.81541	CAC|ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-20.000000	1	0.170000	NM_138789			124	121		632	618	1		1	1		0	0	158	0		1	5.615197e-01	0	3	0	8	0	124	632
BCO2	83875	broad.mit.edu	37	11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000357685.5	+	9	1342	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_ENST00000393032.2_Missense_Mutation_p.A369T|BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	403					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1207-1209)Gca>Aca		beta-carotene oxygenase 2							199.0	200.0	200.0					11																	112084459		2201	4297	6498	SO:0001583	missense	83875	0	0					g.chr11:112084459G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1207G>A	chr11.hg19:g.112084459G>A	ENSP00000350314:p.Ala403Thr	0					BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T	p.A403T			1	2	3	1.991067	Q9BYV7	BCDO2_HUMAN		9	1342	+			B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	1	1	hg19	c.1207G>A	CCDS8358.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.872|1.872	-0.460077|-0.460077	0.04508|0.04508	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.94687|0.94862	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49|-3.54	5.27|5.27	1.17|1.17	0.20885|0.20885	5.27|5.27	1.17|1.17	0.20885|0.20885	.|.	1.298920|.	0.04967|.	N|.	0.463152|.	D|D	0.86351|0.86351	0.5912|0.5912	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.003|.	B;B;B;B|.	0.34418|.	0.007;0.182;0.016;0.026|.	T|T	0.76841|0.76841	-0.2810|-0.2810	10|7	0.19590|0.37606	T|T	0.45|0.19	-4.7509|-4.7509	5.0829|5.0829	0.14666|0.14666	0.3056:0.0:0.5596:0.1348|0.3056:0.0:0.5596:0.1348	.|.	380;330;403;230|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	T|N	403;369;330;369;369;298;369|170	ENSP00000350314:A403T;ENSP00000376752:A369T;ENSP00000354338:A330T;ENSP00000414843:A369T;ENSP00000436615:A369T;ENSP00000431802:A298T;ENSP00000437053:A369T|ENSP00000432045:S170N	ENSP00000350314:A403T|ENSP00000432045:S170N	A|S	+|+	1|2	0|0	0|0	BCO2|BCO2	111589669|111589669	111589669|111589669	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.094000|0.094000	0.18550|0.18550	0.006000|0.006000	0.13152|0.13152	-0.032000|-0.032000	0.13758|0.13758	-0.237000|-0.237000	0.12165|0.12165	GCA|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	1	0	1		2	2	2	0		0	0	174		174	174	1	2.060000	-20.000000	1	0.170000	NM_001037290			159	156		908	902	1		1	0		0	0	174	0		1	2.252083e-02	0	0	0	2	0	159	908
NCAM1	4684	broad.mit.edu	37	11	113075180	113075180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000316851.7	+	2	270	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|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	100	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)			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)		TGGTTACAGGCGAGGATGGCA	0.527																																						ENST00000316851.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(268-270)ggC>ggT		neural cell adhesion molecule 1							82.0	85.0	84.0					11																	113075180		2136	4229	6365	SO:0001819	synonymous_variant	4684	0	0					g.chr11:113075180C>T		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.270C>T	chr11.hg19:g.113075180C>T		0					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000533760.1_5'UTR	p.G90G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	1	2	3	1.991067	P13591	NCAM1_HUMAN		2	270	+		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)	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000316851.7	1	1	hg19	c.270C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.452074	1	0.170000	NM_000615			42	42		189	188	1		1	0		0	0	57	0		1	5.687387e-01	0	0	0	10	0	42	189
NCAM1	4684	broad.mit.edu	37	11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000533760.1	+	10	1472	c.873G>T	c.(871-873)caG>caT	p.Q291H	NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	419	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)			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)		CAAAGCTACAGGGCCCTGTGG	0.537																																						ENST00000533760.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.990162	0.990000	1.000000																										0				49						c.(871-873)caG>caT		neural cell adhesion molecule 1							45.0	47.0	47.0					11																	113102908		1931	4146	6077	SO:0001583	missense	4684	0	0					g.chr11:113102908G>T		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.873G>T	chr11.hg19:g.113102908G>T	ENSP00000473281:p.Gln291His	0					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H	p.Q291H	NM_001242608.1	NP_001229537.1	1	2	3	1.991067	P13591	NCAM1_HUMAN		10	1472	+		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)	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	1	1	hg19	c.873G>T		1	.	.	.	.	.	.	.	.	.	.	G	9.298	1.052332	0.19827	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.16	5.51	1.58	0.23477	5.51	1.58	0.23477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245525	0.33712	U	0.004635	T	0.53948	0.1828	.	.	.	0.80722	D	1	B;B;B;B	0.20887	0.049;0.007;0.005;0.002	B;B;B;B	0.13407	0.007;0.004;0.007;0.009	T	0.45716	-0.9242	9	0.49607	T	0.09	-28.7809	8.8057	0.34936	0.3503:0.0:0.6497:0.0	.	419;409;419;409	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	H	291;418;409	ENSP00000384055:Q418H;ENSP00000318472:Q409H	ENSP00000318472:Q409H	Q	+	3	2	2	NCAM1	112608118	112608118	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	2.707000	0.47143	0.111000	0.17947	-0.384000	0.06662	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_000615			18	18		139	137	1		1	0		0	0	31	0		9.999858e-01	1.142242e-01	0	0	0	5	0	18	139
TTC12	54970	broad.mit.edu	37	11	113235728	113235728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113235728C>T	ENST00000529221.1	+	21	2093	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	663										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAAGACGGCCGTGCAGGTG	0.562																																						ENST00000529221.1	1.000000	0.190000	5.700000e-01	2.800000e-01	0.400000	0.438365	0.400000	0.380000																										0				32						c.(1987-1989)gCc>gTc		tetratricopeptide repeat domain 12							88.0	65.0	73.0					11																	113235728		2201	4296	6497	SO:0001583	missense	54970	0	0					g.chr11:113235728C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1988C>T	chr11.hg19:g.113235728C>T	ENSP00000433757:p.Ala663Val	0					TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V	p.A663V	NM_017868.3	NP_060338.3	1	2	3	1.991067	Q9H892	TTC12_HUMAN		21	2093	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	0	1	hg19	c.1988C>T	CCDS8360.2	0	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718723	0.48622	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.50277	0.75;0.75;0.75	5.78	4.86	0.63082	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	1.215570	0.05388	N	0.538515	T	0.47192	0.1432	L	0.47190	1.495	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.38562	0.276;0.276	T	0.41142	-0.9525	10	0.52906	T	0.07	-7.9027	10.3699	0.44046	0.2592:0.6124:0.1284:0.0	.	663;663	A8K8G6;Q9H892	.;TTC12_HUMAN	V	663;663;669	ENSP00000433757:A663V;ENSP00000315160:A663V;ENSP00000419652:A669V	ENSP00000315160:A663V	A	+	2	0	0	TTC12	112740938	112740938	0.002000	0.14202	0.071000	0.20095	0.428000	0.31595	0.574000	0.23714	1.443000	0.47586	0.650000	0.86243	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.118086	1	0.170000	NM_017868			9	9		268	261	0		1	1		0	0	49	0		9.937354e-01	3.040146e-01	0	3	0	28	0	9	268
ANKK1	255239	broad.mit.edu	37	11	113258669	113258669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	ENST00000303941.3	+	1	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	21							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGACGACTTCGAGGGCGACT	0.726																																						ENST00000303941.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.992273	0.990000	1.000000																										0				29						c.(61-63)ttC>ttT		ankyrin repeat and kinase domain containing 1							5.0	8.0	7.0					11																	113258669		1775	3911	5686	SO:0001819	synonymous_variant	255239	0	0					g.chr11:113258669C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.63C>T	chr11.hg19:g.113258669C>T		0						p.F21F	NM_178510.1	NP_848605.1	1	2	3	1.991067	Q8NFD2	ANKK1_HUMAN		1	157	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		Silent	SNP	ENST00000303941.3	0	1	hg19	c.63C>T	CCDS44734.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-16.321540	1	0.170000	NM_178510			8	7		41	40	0		1			0	0	9	0		9.898201e-01	0	0	0	0	0	0	8	41
ANKK1	255239	broad.mit.edu	37	11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647																																						ENST00000303941.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				29						c.(814-816)cCc>cTc		ankyrin repeat and kinase domain containing 1							91.0	96.0	94.0					11																	113266921		1970	4134	6104	SO:0001583	missense	255239	0	0					g.chr11:113266921C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.815C>T	chr11.hg19:g.113266921C>T	ENSP00000306678:p.Pro272Leu	0						p.P272L	NM_178510.1	NP_848605.1	1	2	3	1.991067	Q8NFD2	ANKK1_HUMAN		5	909	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		Missense_Mutation	SNP	ENST00000303941.3	1	1	hg19	c.815C>T	CCDS44734.1	1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357838	0.24598	.	.	ENSG00000170209	ENST00000303941	T	0.46819	0.86	4.44	4.44	0.53790	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139368	0.32161	U	0.006485	T	0.60143	0.2246	M	0.90977	3.165	0.50039	D	0.99984	B	0.22746	0.074	B	0.26202	0.067	T	0.67534	-0.5646	10	0.66056	D	0.02	-30.2474	16.2135	0.82186	0.0:1.0:0.0:0.0	.	272	Q8NFD2	ANKK1_HUMAN	L	272	ENSP00000306678:P272L	ENSP00000306678:P272L	P	+	2	0	0	ANKK1	112772131	112772131	0.037000	0.19845	1.000000	0.80357	0.015000	0.08874	0.365000	0.20348	2.285000	0.76669	0.462000	0.41574	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-2.642105	1	0.170000	NM_178510			65	64		443	432	1		1	0		0	0	110	0		1	1.696788e-02	0	1	0	1	0	65	443
ANKK1	255239	broad.mit.edu	37	11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L288L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587																																						ENST00000303941.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.L288L(1)	endometrium(1)	29						c.(862-864)Ctg>Atg		ankyrin repeat and kinase domain containing 1							61.0	64.0	63.0					11																	113267969		2136	4237	6373	SO:0001583	missense	255239	0	0					g.chr11:113267969C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.862C>A	chr11.hg19:g.113267969C>A	ENSP00000306678:p.Leu288Met	0						p.L288M	NM_178510.1	NP_848605.1	1	2	3	1.991067	Q8NFD2	ANKK1_HUMAN		6	956	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		Missense_Mutation	SNP	ENST00000303941.3	1	1	hg19	c.862C>A	CCDS44734.1	1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816348	0.32145	.	.	ENSG00000170209	ENST00000303941	T	0.76448	-1.02	4.8	3.88	0.44766	4.8	3.88	0.44766	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355271	0.19070	N	0.123526	T	0.80874	0.4707	L	0.38838	1.175	0.39011	D	0.959556	D	0.71674	0.998	D	0.66196	0.942	T	0.81226	-0.1029	10	0.46703	T	0.11	-7.9202	12.6573	0.56793	0.0:0.8342:0.1658:0.0	.	288	Q8NFD2	ANKK1_HUMAN	M	288	ENSP00000306678:L288M	ENSP00000306678:L288M	L	+	1	2	2	ANKK1	112773179	112773179	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.186000	0.32078	1.218000	0.43458	-0.304000	0.09214	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_178510			43	42		130	129	1		1			0	0	51	0		1	0	0	0	0	0	0	43	130
ANKK1	255239	broad.mit.edu	37	11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	436							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647																																						ENST00000303941.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999670	0.990000	1.000000																										0				29						c.(1306-1308)Gcc>Acc		ankyrin repeat and kinase domain containing 1							23.0	26.0	25.0					11																	113269997		2137	4235	6372	SO:0001583	missense	255239	0	0					g.chr11:113269997G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1306G>A	chr11.hg19:g.113269997G>A	ENSP00000306678:p.Ala436Thr	0						p.A436T	NM_178510.1	NP_848605.1	1	2	3	1.991067	Q8NFD2	ANKK1_HUMAN		8	1400	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		Missense_Mutation	SNP	ENST00000303941.3	1	1	hg19	c.1306G>A	CCDS44734.1	1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357415	0.61293	.	.	ENSG00000170209	ENST00000303941	T	0.71817	-0.6	4.61	4.61	0.57282	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000021	T	0.81880	0.4916	L	0.61387	1.9	0.48135	D	0.999594	D	0.76494	0.999	D	0.73708	0.981	D	0.84058	0.0373	10	0.72032	D	0.01	-20.5807	16.5983	0.84802	0.0:0.0:1.0:0.0	.	436	Q8NFD2	ANKK1_HUMAN	T	436	ENSP00000306678:A436T	ENSP00000306678:A436T	A	+	1	0	0	ANKK1	112775207	112775207	1.000000	0.71417	0.945000	0.38365	0.082000	0.17680	6.159000	0.71856	2.387000	0.81309	0.455000	0.32223	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_178510			14	13		56	54	1		1			0	0	10	0		9.998074e-01	0	0	0	0	0	0	14	56
DRD2	1813	broad.mit.edu	37	11	113281506	113281506	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000538967.1_Silent_p.I427I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Silent_p.I424I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	425					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)			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)	AGGTGGTGTAGATGATGGGGT	0.577																																						ENST00000362072.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1273-1275)atC>atA		dopamine receptor D2	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)						273.0	203.0	227.0					11																	113281506		2201	4296	6497	SO:0001819	synonymous_variant	1813	0	0					g.chr11:113281506G>T	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.1275C>A	chr11.hg19:g.113281506G>T		0					DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.I427I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000542968.1_Silent_p.I425I	p.I425I	NM_000795.3	NP_000786.1	1	2	3	1.991067	P14416	DRD2_HUMAN		8	1619	-		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)	Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	1	1	hg19	c.1275C>A	CCDS8361.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	1	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-20.000000	1	0.170000	NM_000795			139	134		613	599	1		1	0		0	0	144	0		1	0	0	0	0	1	0	139	613
TMPRSS5	80975	broad.mit.edu	37	11	113560616	113560616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113560616C>T	ENST00000299882.5	-	12	1378	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V|TMPRSS5_ENST00000545579.1_Silent_p.V401V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	410	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CATCTGGGCACACTAGGGGGC	0.607																																						ENST00000299882.5	1.000000	0.840000	1	9.900000e-01	0.990000	0.990666	0.990000	1.000000																										0				10						c.(1228-1230)gtG>gtA		transmembrane protease, serine 5							15.0	16.0	16.0					11																	113560616		1899	4105	6004	SO:0001819	synonymous_variant	80975	0	0					g.chr11:113560616C>T	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1230G>A	chr11.hg19:g.113560616C>T		0					TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000538955.1_Silent_p.V366V	p.V410V	NM_030770.2	NP_110397.2	1	2	3	1.991067	Q9H3S3	TMPS5_HUMAN		12	1378	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		Silent	SNP	ENST00000299882.5	0	1	hg19	c.1230G>A	CCDS44735.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-16.678780	1	0.170000	NM_030770			6	4		25	25	0		1			0	0	8	0		9.632820e-01	0	0	0	0	0	0	6	25
ZW10	9183	broad.mit.edu	37	11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	543					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)			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)		CATACAGTTGTTGTGATGAAT	0.488																																						ENST00000200135.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1627-1629)aAc>aCc		zw10 kinetochore protein							158.0	140.0	146.0					11																	113610060		2201	4296	6497	SO:0001583	missense	9183	0	0					g.chr11:113610060T>G	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.1628A>C	chr11.hg19:g.113610060T>G	ENSP00000200135:p.Asn543Thr	0						p.N543T	NM_004724.3	NP_004715.1	1	2	3	1.991067	O43264	ZW10_HUMAN		12	1772	-		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)	A1A528	Missense_Mutation	SNP	ENST00000200135.3	1	1	hg19	c.1628A>C	CCDS8363.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310377	0.81358	.	.	ENSG00000086827	ENST00000200135	T	0.75704	-0.96	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88631	0.3169	10	0.87932	D	0	-19.3846	15.9494	0.79820	0.0:0.0:0.0:1.0	.	543	O43264	ZW10_HUMAN	T	543	ENSP00000200135:N543T	ENSP00000200135:N543T	N	-	2	0	0	ZW10	113115270	113115270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.167000	0.68274	0.482000	0.46254	AAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-20.000000	1	0.170000	NM_004724			73	73		349	344	1		1	1		0	0	109	0		1	9.999503e-01	0	19	0	52	0	73	349
USP28	57646	broad.mit.edu	37	11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T	rs370538899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	644	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		GTACATCAGACAGTAAGCACT	0.413																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				59						c.(1930-1932)tGt>tAt		ubiquitin specific peptidase 28							117.0	111.0	113.0					11																	113683039		2201	4296	6497	SO:0001583	missense	57646	0	0					g.chr11:113683039C>T	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.1931G>A	chr11.hg19:g.113683039C>T	ENSP00000003302:p.Cys644Tyr	0					USP28_ENST00000260188.5_Missense_Mutation_p.C644Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000544967.1_Missense_Mutation_p.C352Y	p.C644Y	NM_020886.2	NP_065937.1	1	2	3	1.991067	Q96RU2	UBP28_HUMAN		16	1999	-		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)	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	1	1	hg19	c.1931G>A	CCDS31680.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483135	0.84747	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.53561	1.675	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	0.54443	-0.8293	10	0.72032	D	0.01	-15.4412	18.491	0.90848	0.0:1.0:0.0:0.0	.	519;644;352	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Y	644;644;352;519;348	ENSP00000003302:C644Y;ENSP00000260188:C644Y;ENSP00000442431:C352Y;ENSP00000444991:C519Y;ENSP00000442257:C348Y	ENSP00000003302:C644Y	C	-	2	0	0	USP28	113188249	113188249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.585000	0.87301	0.655000	0.94253	TGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-3.318901	1	0.170000				55	53		357	352	1		1	1		0	0	83	0		1	9.738502e-01	0	7	0	33	0	55	357
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000260188.5_Silent_p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		CTTCTTCCCAGGAAGATTCAG	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1873-1875)tcC>tcA		ubiquitin specific peptidase 28							132.0	134.0	133.0					11																	113683095		2201	4296	6497	SO:0001819	synonymous_variant	57646	0	0					g.chr11:113683095G>T	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.1875C>A	chr11.hg19:g.113683095G>T		0					USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	p.S625S	NM_020886.2	NP_065937.1	1	2	3	1.991067	Q96RU2	UBP28_HUMAN		16	1943	-		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)	B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	1	1	hg19	c.1875C>A	CCDS31680.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	0		2	2	2	0		0	0	93		93	92	1	2.060000	-2.808739	1	0.170000				69	68		387	378	1		1	1		0	0	93	0		1	9.441721e-01	0	6	0	23	0	69	387
USP28	57646	broad.mit.edu	37	11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	USP28_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|RP11-667M19.10_ENST00000399123.2_RNA	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	477	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		ACCGAGCAGTGCACTGAAGAA	0.358																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1429-1431)Cac>Tac		ubiquitin specific peptidase 28							163.0	142.0	149.0					11																	113688414		2201	4296	6497	SO:0001583	missense	57646	0	0					g.chr11:113688414G>A	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.1429C>T	chr11.hg19:g.113688414G>A	ENSP00000003302:p.His477Tyr	0					USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y	p.H477Y	NM_020886.2	NP_065937.1	1	2	3	1.991067	Q96RU2	UBP28_HUMAN		13	1497	-		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)	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	1	1	hg19	c.1429C>T	CCDS31680.1	1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.068011	0.07228	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.44083	1.52;1.53;0.93;1.53;1.91	5.48	5.48	0.80851	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.638378	0.16792	N	0.199355	T	0.30198	0.0757	N	0.14661	0.345	0.29783	N	0.833808	B;B;B;B	0.22003	0.032;0.043;0.025;0.063	B;B;B;B	0.24974	0.057;0.032;0.023;0.034	T	0.17806	-1.0357	10	0.44086	T	0.13	-10.7052	14.7347	0.69406	0.0:0.0:1.0:0.0	.	352;477;477;185	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Y	477;477;185;352;477	ENSP00000003302:H477Y;ENSP00000260188:H477Y;ENSP00000442431:H185Y;ENSP00000444991:H352Y;ENSP00000445743:H477Y	ENSP00000003302:H477Y	H	-	1	0	0	USP28	113193624	113193624	0.990000	0.36364	0.718000	0.30602	0.865000	0.49528	2.355000	0.44107	2.861000	0.98227	0.650000	0.86243	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000				121	120		473	461	1		1	1		0	0	99	0		1	9.781436e-01	0	4	0	22	0	121	473
USP28	57646	broad.mit.edu	37	11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000542033.1_Intron|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000260188.5_Missense_Mutation_p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	269	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		CTGGAATGCGTCCTCTAGCCA	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4	1.000000	0.370000	9.100000e-01	5.000000e-01	0.680000	0.697842	0.680000	1.000000																										0				59						c.(805-807)gAc>gGc		ubiquitin specific peptidase 28							112.0	92.0	99.0					11																	113702669		2201	4296	6497	SO:0001583	missense	57646	0	0					g.chr11:113702669T>C	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.806A>G	chr11.hg19:g.113702669T>C	ENSP00000003302:p.Asp269Gly	0					USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000542033.1_Intron|USP28_ENST00000537706.1_Missense_Mutation_p.D269G	p.D269G	NM_020886.2	NP_065937.1	1	2	3	1.991067	Q96RU2	UBP28_HUMAN		8	874	-		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)	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	1	1	hg19	c.806A>G	CCDS31680.1	0	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741660	0.89573	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.04	5.04	0.67666	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	T	0.47484	-0.9114	10	0.49607	T	0.09	-26.2298	15.0622	0.71964	0.0:0.0:0.0:1.0	.	144;269;269	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	G	269;269;144;33;269;168	ENSP00000003302:D269G;ENSP00000260188:D269G;ENSP00000444991:D144G;ENSP00000442257:D33G;ENSP00000445743:D269G;ENSP00000440799:D168G	ENSP00000003302:D269G	D	-	2	0	0	USP28	113207879	113207879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.011000	0.59026	0.460000	0.39030	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-15.107770	1	0.170000				12	12		203	195	0		1	0		0	0	53	0		9.989881e-01	1.838066e-01	0	0	0	13	0	12	203
HTR3B	9177	broad.mit.edu	37	11	113780108	113780108	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	48					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)			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)	AAGAAGTGAGACCTGTTTACA	0.448																																						ENST00000260191.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(142-144)agA>agG		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	Ergoloid mesylate(DB01049)						131.0	108.0	116.0					11																	113780108		2201	4296	6497	SO:0001819	synonymous_variant	9177	0	0					g.chr11:113780108A>G	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.144A>G	chr11.hg19:g.113780108A>G		0					HTR3B_ENST00000537778.1_Silent_p.R37R	p.R48R	NM_006028.4	NP_006019.1	1	2	3	1.991067	O95264	5HT3B_HUMAN		2	401	+		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)	B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	1	1	hg19	c.144A>G	CCDS8364.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_006028			56	55		267	262	1		1			0	0	58	0		1	0	0	0	0	0	0	56	267
HTR3B	9177	broad.mit.edu	37	11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	363					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)			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)	TGCTGTGGTAACAGGTGTGTG	0.537																																						ENST00000260191.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1087-1089)Aca>Cca		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	Ergoloid mesylate(DB01049)						148.0	122.0	131.0					11																	113815474		2201	4296	6497	SO:0001583	missense	9177	0	0					g.chr11:113815474A>C	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.1087A>C	chr11.hg19:g.113815474A>C	ENSP00000260191:p.Thr363Pro	0					HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	p.T363P	NM_006028.4	NP_006019.1	1	2	3	1.991067	O95264	5HT3B_HUMAN		8	1344	+		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)	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	1	1	hg19	c.1087A>C	CCDS8364.1	1	.	.	.	.	.	.	.	.	.	.	A	6.484	0.457526	0.12342	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.23552	1.9;1.9	5.11	2.78	0.32641	5.11	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.660669	0.16067	N	0.231187	T	0.12050	0.0293	N	0.11789	0.175	0.30936	N	0.726339	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12477	-1.0546	10	0.31617	T	0.26	-2.0701	4.6748	0.12706	0.7057:0.1958:0.0985:0.0	.	352;363	O95264-2;O95264	.;5HT3B_HUMAN	P	363;352	ENSP00000260191:T363P;ENSP00000443118:T352P	ENSP00000260191:T363P	T	+	1	0	0	HTR3B	113320684	113320684	0.009000	0.17119	0.707000	0.30419	0.119000	0.20118	-0.088000	0.11198	0.776000	0.33473	0.533000	0.62120	ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	1	0	1		2	2	2	0		0	0	87		87	84	1	2.060000	-20.000000	1	0.170000	NM_006028			61	60		306	299	1		1			0	0	87	0		1	0	0	0	0	0	0	61	306
HTR3A	3359	broad.mit.edu	37	11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCGGCATCAAGGCGAAGTTCA	0.537																																						ENST00000504030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(427-429)Ggc>Agc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)						182.0	161.0	168.0					11																	113853894		2201	4296	6497	SO:0001583	missense	3359	0	0					g.chr11:113853894G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.427G>A	chr11.hg19:g.113853894G>A	ENSP00000424189:p.Gly143Ser	0					HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S	p.G143S			1	2	3	1.991067	P46098	5HT3A_HUMAN		5	872	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	1	1	hg19	c.427G>A		1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378457	0.82682	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.39	4.48	0.54585	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95712	3.71	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	0.99391	1.0925	10	0.72032	D	0.01	-21.8271	14.2487	0.66004	0.0721:0.0:0.9279:0.0	.	128;149;149	B4DSY6;G5E986;Q7KZM7	.;.;.	S	143;149;149;143;128	ENSP00000424189:G143S;ENSP00000347754:G149S;ENSP00000364648:G149S;ENSP00000424776:G143S;ENSP00000299961:G128S	ENSP00000299961:G128S	G	+	1	0	0	HTR3A	113359104	113359104	1.000000	0.71417	0.035000	0.18076	0.571000	0.35966	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-3.190295	1	0.170000	NM_000869			138	137		559	551	1		1	1		0	0	147	0		1	7.598418e-01	0	7	0	6	0	138	559
HTR3A	3359	broad.mit.edu	37	11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D|HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	283					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCCTCCTGGGCTACTCGGTC	0.577																																						ENST00000504030.2	1.000000	0.910000	1	9.900000e-01	0.990000	0.995006	0.990000	1.000000																										0				36						c.(847-849)gGc>gAc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)						103.0	80.0	88.0					11																	113857382		2201	4296	6497	SO:0001583	missense	3359	0	0					g.chr11:113857382G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.848G>A	chr11.hg19:g.113857382G>A	ENSP00000424189:p.Gly283Asp	0					HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D|HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D	p.G283D			1	2	3	1.991067	P46098	5HT3A_HUMAN		7	1293	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	1	1	hg19	c.848G>A		1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540559	0.85917	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85258	-1.96;-0.62;-1.96;-0.62;-1.96;-1.96	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	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;0.998	D	0.94826	0.7991	10	0.87932	D	0	-31.8021	18.4412	0.90667	0.0:0.0:1.0:0.0	.	268;289;289	B4DSY6;G5E986;Q7KZM7	.;.;.	D	283;289;289;283;27;268	ENSP00000424189:G283D;ENSP00000347754:G289D;ENSP00000364648:G289D;ENSP00000424776:G283D;ENSP00000437776:G27D;ENSP00000299961:G268D	ENSP00000299961:G268D	G	+	2	0	0	HTR3A	113362592	113362592	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.421000	0.82119	0.561000	0.74099	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-16.660050	1	0.170000	NM_000869			49	48		428	410	1		1	1		0	0	97	0		1	3.202010e-01	0	4	0	7	0	49	428
HTR3A	3359	broad.mit.edu	37	11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGTGGGCTCCGTGCTGGACAA	0.602																																						ENST00000504030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1342-1344)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)						81.0	73.0	76.0					11																	113860390		2201	4296	6497	SO:0001583	missense	3359	7	121412	39				g.chr11:113860390G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1342G>A	chr11.hg19:g.113860390G>A	ENSP00000424189:p.Val448Met	0					HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M	p.V448M			1	2	3	1.991067	P46098	5HT3A_HUMAN		9	1787	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	1	1	hg19	c.1342G>A		1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063842	0.76187	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.43245	-0.9403	10	0.87932	D	0	-26.7499	13.105	0.59241	0.073:0.0:0.927:0.0	.	433;486;454	B4DSY6;G5E986;Q7KZM7	.;.;.	M	448;486;454;480;192;433	ENSP00000424189:V448M;ENSP00000347754:V486M;ENSP00000364648:V454M;ENSP00000424776:V480M;ENSP00000437776:V192M;ENSP00000299961:V433M	ENSP00000299961:V433M	V	+	1	0	0	HTR3A	113365600	113365600	1.000000	0.71417	0.973000	0.42090	0.621000	0.37620	5.499000	0.66937	2.710000	0.92621	0.655000	0.94253	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1		20	2	2	0		0	1	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_000869			109	108		440	436	1		1	1		0	0	89	0		1	9.565568e-01	0	12	0	11	0	109	440
ZBTB16	7704	broad.mit.edu	37	11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	184					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)			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)		GTGGACCAGAGCCCTTCAGTC	0.552																																						ENST00000335953.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(550-552)aGc>aAc		zinc finger and BTB domain containing 16							56.0	58.0	57.0					11																	113934573		2201	4296	6497	SO:0001583	missense	7704	0	0					g.chr11:113934573G>A	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.551G>A	chr11.hg19:g.113934573G>A	ENSP00000338157:p.Ser184Asn	0					ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	p.S184N	NM_006006.4	NP_005997.2	1	2	3	1.991067	Q05516	ZBT16_HUMAN		2	931	+		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)	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	1	1	hg19	c.551G>A	CCDS8367.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912424	0.52439	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10288	2.89;2.89	5.67	4.74	0.60224	5.67	4.74	0.60224	.	0.117422	0.85682	D	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15150	-1.0447	10	0.35671	T	0.21	-4.991	15.5488	0.76129	0.0695:0.0:0.9305:0.0	.	184;189	Q05516;Q59H43	ZBT16_HUMAN;.	N	184	ENSP00000338157:S184N;ENSP00000376721:S184N	ENSP00000309507:S184N	S	+	2	0	0	ZBTB16	113439783	113439783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.828000	0.97474	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_006006			68	66		285	282	1		1	0		0	0	55	0		1	9.999946e-01	0	0	0	77	0	68	285
REXO2	25996	broad.mit.edu	37	11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000265881.5	+	1	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|RP11-212D19.4_ENST00000544347.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	18					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265881.5	1.000000	0.710000	1	9.500000e-01	0.990000	0.971208	0.990000	1.000000																										0				4						c.(52-54)cAc>cGc		RNA exonuclease 2							31.0	33.0	33.0					11																	114310303		2199	4294	6493	SO:0001583	missense	25996	0	0					g.chr11:114310303A>G	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.53A>G	chr11.hg19:g.114310303A>G	ENSP00000265881:p.His18Arg	0		OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1457	RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R	p.H18R	NM_015523.3	NP_056338.2	1	2	3	1.991067	Q9Y3B8	ORN_HUMAN		1	196	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000265881.5	1	1	hg19	c.53A>G	CCDS8371.1	1	.	.	.	.	.	.	.	.	.	.	a	3.772	-0.047394	0.07407	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	.	.	.	5.27	2.42	0.29668	5.27	2.42	0.29668	.	1.206880	0.05657	N	0.586217	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	9	0.05351	T	0.99	2.6504	6.1819	0.20476	0.2333:0.1352:0.6315:0.0	.	18;18	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	R	18	.	ENSP00000265881:H18R	H	+	2	0	0	REXO2	113815513	113815513	0.025000	0.19082	0.737000	0.30932	0.771000	0.43674	0.592000	0.23984	0.235000	0.21160	-0.147000	0.13772	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.751370	1	0.170000	NM_015523			13	13		111	109	1		1	1		0	0	28	0		9.995884e-01	9.999890e-01	0	47	0	150	0	13	111
CADM1	23705	broad.mit.edu	37	11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000542447.2_Missense_Mutation_p.V348M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M	NM_014333.3	NP_055148.3			cell adhesion molecule 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)		CCACCGATCACGGCATGATCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.001					ENST00000452722.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1126-1128)Gtg>Atg		cell adhesion molecule 1		C	MET/VAL,MET/VAL	0,4402		0,0,2201	129.0	111.0	117.0		1042,1126	5.0	1.0	11	dbSNP_134	117	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CADM1	NM_001098517.1,NM_014333.3	21,21	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	348/415,376/443	115049448	1,12993	2201	4296	6497	SO:0001583	missense	23705	3	121412	40				g.chr11:115049448C>T	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.1126G>A	chr11.hg19:g.115049448C>T	ENSP00000395359:p.Val376Met	0					CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M	p.V376M	NM_014333.3	NP_055148.3	1	2	3	1.991067				9	1146	-	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)		Missense_Mutation	SNP	ENST00000452722.3	1	1	hg19	c.1126G>A	CCDS8373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589329|3.589329	0.66105|0.66105	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02	5.0|5.0	5.0|5.0	0.66597|0.66597	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.999;0.994	.|D;P;D;P	.|0.69654	.|0.935;0.819;0.965;0.67	T|T	0.79157|0.79157	-0.1919|-0.1919	5|10	.|0.38643	.|T	.|0.18	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;349;376;348	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	H|M	346|348;376;387;377;307;405;61	.|ENSP00000439176:V348M;ENSP00000395359:V376M;ENSP00000439817:V387M;ENSP00000440322:V377M;ENSP00000329797:V405M	.|ENSP00000329797:V405M	R|V	-|-	2|1	0|0	0|0	CADM1|CADM1	114554658|114554658	114554658|114554658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.448000|4.448000	0.60027|0.60027	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CGT|GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_014333			108	104		543	524	1		1	1		0	0	85	0		1	1	0	2	0	132	0	108	543
CADM1	23705	broad.mit.edu	37	11	115088668	115088668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000542447.2_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000537058.1_Silent_p.G255G	NM_014333.3	NP_055148.3			cell adhesion molecule 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)		CCCGGGTTAAGCCTTGTAGAG	0.453																																						ENST00000452722.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(763-765)ggC>ggT		cell adhesion molecule 1							152.0	129.0	137.0					11																	115088668		2201	4296	6497	SO:0001819	synonymous_variant	23705	0	0					g.chr11:115088668G>A	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.765C>T	chr11.hg19:g.115088668G>A		0					CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G	p.G255G	NM_014333.3	NP_055148.3	1	2	3	1.991067				6	785	-	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)		Silent	SNP	ENST00000452722.3	1	1	hg19	c.765C>T	CCDS8373.1	1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908549	0.17833	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	.	14.1468	0.65355	0.0:0.1493:0.8507:0.0	.	.	.	.	F	254	.	.	L	-	1	0	0	CADM1	114593878	114593878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	2.593000	0.87608	0.655000	0.94253	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.012992	1	0.170000	NM_014333			52	52		231	227	1		1	0		0	0	67	0		1	9.999998e-01	0	1	0	106	0	52	231
CADM1	23705	broad.mit.edu	37	11	115099861	115099861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000542447.2_Silent_p.L231L|CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000537058.1_Silent_p.L231L	NM_014333.3	NP_055148.3			cell adhesion molecule 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)		GCTGGGTCTGCAGGTTTCCAG	0.512																																						ENST00000452722.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				32						c.(691-693)ctG>ctA		cell adhesion molecule 1							81.0	64.0	70.0					11																	115099861		2201	4296	6497	SO:0001819	synonymous_variant	23705	0	0					g.chr11:115099861C>T	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.693G>A	chr11.hg19:g.115099861C>T		0					CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L	p.L231L	NM_014333.3	NP_055148.3	1	2	3	1.991067				5	713	-	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)		Silent	SNP	ENST00000452722.3	1	1	hg19	c.693G>A	CCDS8373.1	1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347509	0.24426	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.27	0.74061	6.17	5.27	0.74061	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	.	.	.	T	230	.	.	A	-	1	0	0	CADM1	114605071	114605071	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.673000	0.46858	1.627000	0.50400	0.655000	0.94253	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_014333			37	35		187	185	1		1	0		0	0	48	0		1	1	0	1	0	141	0	37	187
BUD13	84811	broad.mit.edu	37	11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000260210.4	-	9	1747	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	575					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443																																						ENST00000260210.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				22						c.(1723-1725)aGa>aTa		BUD13 homolog (S. cerevisiae)							81.0	77.0	78.0					11																	116627904		2201	4296	6497	SO:0001583	missense	84811	0	0					g.chr11:116627904C>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1724G>T	chr11.hg19:g.116627904C>A	ENSP00000260210:p.Arg575Ile	0					BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	p.R575I	NM_032725.3	NP_116114.1	1	2	3	1.991067	Q9BRD0	BUD13_HUMAN		9	1747	-	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)	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	1	1	hg19	c.1724G>T	CCDS8374.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.454206	0.96223	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.68181	0.07;-0.31	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	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	0.90556	0.4512	10	0.87932	D	0	-17.0014	20.5801	0.99389	0.0:1.0:0.0:0.0	.	441;575	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	I	441;575	ENSP00000364594:R441I;ENSP00000260210:R575I	ENSP00000260210:R575I	R	-	2	0	0	BUD13	116133114	116133114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.873000	0.98535	0.643000	0.83706	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-16.973400	1	0.170000	NM_032725			29	29		141	137	1		1	1		0	0	61	0		1	9.999700e-01	0	23	0	61	0	29	141
APOA5	116519	broad.mit.edu	37	11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000227665.4	-	3	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	APOA5_ENST00000542499.1_Missense_Mutation_p.R204H|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701																																						ENST00000227665.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(610-612)cGc>cAc		apolipoprotein A-V							13.0	16.0	15.0					11																	116661334		2176	4251	6427	SO:0001583	missense	116519	0	0					g.chr11:116661334C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.611G>A	chr11.hg19:g.116661334C>T	ENSP00000227665:p.Arg204His	0					ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R204H	p.R204H			1	2	3	1.991067	Q6Q788	APOA5_HUMAN		3	645	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	1	1	hg19	c.611G>A	CCDS8376.2	1	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365282	0.11352	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73681	-0.77;-0.77	4.84	-7.05	0.01573	4.84	-7.05	0.01573	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	T	0.54870	0.1885	N	0.11064	0.09	0.22851	N	0.998653	B;B	0.14805	0.011;0.004	B;B	0.12837	0.008;0.008	T	0.39761	-0.9598	10	0.29301	T	0.29	-6.7753	16.6351	0.85050	0.0:0.7996:0.0:0.2004	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	204	ENSP00000227665:R204H;ENSP00000445002:R204H	ENSP00000227665:R204H	R	-	2	0	0	APOA5	116166544	116166544	0.163000	0.22920	0.823000	0.32752	0.894000	0.52154	-0.967000	0.03821	-1.392000	0.02082	-0.157000	0.13467	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				43	42		159	156	1		1			0	0	17	0		1	0	0	0	0	0	0	43	159
APOA5	116519	broad.mit.edu	37	11	116661734	116661734	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661734G>T	ENST00000227665.4	-	3	245	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	APOA5_ENST00000542499.1_Missense_Mutation_p.L71M|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	71					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGCTTTTCCAGGAACTTGTTC	0.587																																						ENST00000227665.4	1.000000	0.250000	6.400000e-01	3.400000e-01	0.470000	0.505225	0.470000	0.450000																										0				14						c.(211-213)Ctg>Atg		apolipoprotein A-V							22.0	25.0	24.0					11																	116661734		2187	4267	6454	SO:0001583	missense	116519	0	0					g.chr11:116661734G>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.211C>A	chr11.hg19:g.116661734G>T	ENSP00000227665:p.Leu71Met	0					ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.L71M	p.L71M			1	2	3	1.991067	Q6Q788	APOA5_HUMAN		3	245	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	0	1	hg19	c.211C>A	CCDS8376.2	0	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728506	0.30593	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.86097	-0.87;-0.87;-2.07	4.92	2.9	0.33743	4.92	2.9	0.33743	Apolipoprotein/apolipophorin (1);	0.000000	0.44097	D	0.000495	D	0.90160	0.6925	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.80334	-0.1426	10	0.42905	T	0.14	-15.7997	7.2775	0.26292	0.3041:0.0:0.6959:0.0	.	68;71	B0YIW1;Q6Q788	.;APOA5_HUMAN	M	71	ENSP00000227665:L71M;ENSP00000445002:L71M;ENSP00000399701:L71M	ENSP00000227665:L71M	L	-	1	2	2	APOA5	116166944	116166944	0.015000	0.18098	0.844000	0.33320	0.255000	0.26057	0.698000	0.25571	1.288000	0.44600	0.650000	0.86243	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.049263	1	0.170000				11	10		274	271	0		1			0	0	50	0		9.982921e-01	0	0	0	0	0	0	11	274
APOA5	116519	broad.mit.edu	37	11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000227665.4	-	1	53	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	7					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGGTGAGCACGGCAGCCATG	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|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)																										ENST00000227665.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				14						c.(19-21)Gtg>Atg		apolipoprotein A-V							57.0	49.0	51.0					11																	116662558		2201	4296	6497	SO:0001583	missense	116519	0	0					g.chr11:116662558C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.19G>A	chr11.hg19:g.116662558C>T	ENSP00000227665:p.Val7Met	0		OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|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)	1475	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M	p.V7M			1	2	3	1.991067	Q6Q788	APOA5_HUMAN		1	53	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	1	1	hg19	c.19G>A	CCDS8376.2	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611190	0.46631	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.80480	-0.94;-0.94;-1.38	5.41	-1.14	0.09741	5.41	-1.14	0.09741	.	0.770143	0.11366	N	0.571410	T	0.74207	0.3686	M	0.75264	2.295	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.64145	-0.6476	10	0.62326	D	0.03	-5.4016	2.5289	0.04698	0.2099:0.3124:0.338:0.1397	.	7	Q6Q788	APOA5_HUMAN	M	7	ENSP00000227665:V7M;ENSP00000445002:V7M;ENSP00000399701:V7M	ENSP00000227665:V7M	V	-	1	0	0	APOA5	116167768	116167768	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.470000	0.06639	-0.355000	0.08199	-0.254000	0.11334	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-17.901750	1	0.170000				30	27		145	139	1		1			0	0	35	0		1	0	0	0	0	0	0	30	145
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	rs180917395	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	16					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													T|||	4	0.000798722	0.0	0.0	5008	,	,		19052	0.004		0.0	False		,,,				2504	0.0					ENST00000357780.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				20						c.(46-48)Gcc>Acc		apolipoprotein A-IV							133.0	128.0	129.0					11																	116693862		2201	4292	6493	SO:0001583	missense	337	34	121412	50				g.chr11:116693862C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.46G>A	chr11.hg19:g.116693862C>T	ENSP00000350425:p.Ala16Thr	0						p.A16T	NM_000482.3	NP_000473.2	1	2	3	1.991067	P06727	APOA4_HUMAN		1	160	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	1	1	hg19	c.46G>A	CCDS31681.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	0	APOA4	116199072	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	1	0	1		2	2	2	0		0	0	162		162	160	1	2.060000	-11.113090	1	0.170000	NM_000482			99	99		695	685	1		1	0		0	0	162	0		1	0	0	0	0	1	0	99	695
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000434315.2_Silent_p.S1029S	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0					ENST00000292055.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S1296S(1)	lung(1)	57						c.(3568-3570)tcG>tcA		SIK family kinase 3		C		6,4396	11.4+/-27.6	0,6,2195	180.0	162.0	168.0		3570	-7.1	1.0	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC		0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant	23387	15	121412	47				g.chr11:116718256C>T	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.3570G>A	chr11.hg19:g.116718256C>T		0					SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR	p.S1190S	NM_025164.3	NP_079440.3	1	2	3	1.991067	Q9Y2K2	SIK3_HUMAN		22	3605	-			A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	1	1	hg19	c.3570G>A	CCDS8379.1	1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	0	SIK3	116223466	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	196		196	193	1	2.060000	-2.880216	1	0.170000	NM_025164			131	128		689	676	1		1	1		0	0	196	0		1	9.999884e-01	0	21	0	64	0	131	689
PCSK7	9159	broad.mit.edu	37	11	117077055	117077055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	672					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527			T	IGH@	MLCLS																																	ENST00000320934.3	1.000000	0.230000	5.500000e-01	3.100000e-01	0.410000	0.445038	0.410000	0.390000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7				L	L	IGH@		MLCLS		0				16						c.(2014-2016)ggC>ggT		proprotein convertase subtilisin/kexin type 7							42.0	50.0	47.0					11																	117077055		2201	4296	6497	SO:0001819	synonymous_variant	9159	0	0					g.chr11:117077055G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2016C>T	chr11.hg19:g.117077055G>A		0					PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	p.G672G	NM_004716.2	NP_004707.2	1	2	3	1.991067	Q16549	PCSK7_HUMAN		17	2646	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	1	1	hg19	c.2016C>T	CCDS8382.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	0	0	1		2	2	2	0		0	0	88		88	95	1	2.060000	-13.539750	1	0.170000	NM_004716			14	14		398	371	0		1	1		0	0	88	0		9.996216e-01	9.959525e-01	0	7	0	253	0	14	398
RNF214	257160	broad.mit.edu	37	11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000531452.1	+	2	63	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|RNF214_ENST00000530849.1_Missense_Mutation_p.V6A|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	6							zinc ion binding (GO:0008270)			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)		GCGTCTGAGGTTGCTGGTGTT	0.453																																						ENST00000531452.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(16-18)gTt>gCt		ring finger protein 214							157.0	159.0	159.0					11																	117105005		1991	4170	6161	SO:0001583	missense	257160	0	0					g.chr11:117105005T>C	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.17T>C	chr11.hg19:g.117105005T>C	ENSP00000431643:p.Val6Ala	0					RNF214_ENST00000531287.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000530849.1_Missense_Mutation_p.V6A	p.V6A	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	1	2	3	1.991067	Q8ND24	RN214_HUMAN		2	63	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	1	1	hg19	c.17T>C	CCDS41720.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933225	0.73442	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.64438	-0.08;0.63;-0.1;0.63	4.86	4.86	0.63082	4.86	4.86	0.63082	.	.	.	.	.	T	0.66137	0.2759	N	0.22421	0.69	0.24531	N	0.994112	B;D	0.58268	0.135;0.982	B;D	0.70227	0.037;0.968	T	0.58053	-0.7704	9	0.87932	D	0	-1.7778	10.7639	0.46281	0.0:0.0:0.0:1.0	.	6;6	B4DTD1;Q8ND24	.;RN214_HUMAN	A	6	ENSP00000435361:V6A;ENSP00000431643:V6A;ENSP00000432903:V6A;ENSP00000300650:V6A	ENSP00000300650:V6A	V	+	2	0	0	RNF214	116610215	116610215	0.863000	0.29885	0.960000	0.40013	0.912000	0.54170	1.284000	0.33249	2.027000	0.59764	0.533000	0.62120	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	1	0	1		2	2	2	0		0	0	149		149	145	1	2.060000	-20.000000	1	0.170000	NM_001077239			113	112		554	544	1		1	1		0	0	149	0		1	9.611777e-01	0	8	0	20	0	113	554
BACE1	23621	broad.mit.edu	37	11	117165945	117165945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117165945G>A	ENST00000313005.6	-	3	929	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BACE1_ENST00000514464.1_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	157					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGTTGGCACGCACAGTGACG	0.592																																						ENST00000313005.6	1.000000	0.230000	5.200000e-01	3.000000e-01	0.390000	0.427679	0.390000	0.390000																										0				19						c.(469-471)Cgt>Tgt		beta-site APP-cleaving enzyme 1							200.0	152.0	168.0					11																	117165945		2201	4296	6497	SO:0001583	missense	23621	2	121412	34				g.chr11:117165945G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.469C>T	chr11.hg19:g.117165945G>A	ENSP00000318585:p.Arg157Cys	0					BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C	p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	1	2	3	1.991067	P56817	BACE1_HUMAN		3	929	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	1	1	hg19	c.469C>T	CCDS8383.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390921|4.390921	0.82902|0.82902	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000504995|ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000513780	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.61|5.61	5.61|5.61	0.85477|0.85477	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.052098	.|0.64402	.|D	.|0.000001	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|P;D;D;P	.|0.68039	.|0.893;0.932;0.955;0.855	T|T	0.63668|0.63668	-0.6585|-0.6585	5|10	.|0.72032	.|D	.|0.01	.|.	12.2825|12.2825	0.54771|0.54771	0.0:0.0:0.7325:0.2675|0.0:0.0:0.7325:0.2675	.|.	.|57;57;157;157	.|F8W807;E9PE65;P56817;P56817-2	.|.;.;BACE1_HUMAN;.	V|C	86|157;57;157;57;157	.|ENSP00000318585:R157C;ENSP00000431848:R157C;ENSP00000422461:R57C;ENSP00000424536:R157C	.|ENSP00000318585:R157C	A|R	-|-	2|1	0|0	0|0	BACE1|BACE1	116671155|116671155	116671155|116671155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.410000|3.410000	0.52664|0.52664	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GCG|CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-2.842703	1	0.170000				16	16		473	468	0		1	0		0	0	85	0		9.999294e-01	8.533156e-01	0	1	0	103	0	16	473
BACE1	23621	broad.mit.edu	37	11	117166061	117166061	+	Missense_Mutation	SNP	G	G	A	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	ENST00000313005.6	-	3	813	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	118					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTATGTGCTGGACCTGTGGAA	0.537																																						ENST00000313005.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				19						c.(352-354)tCc>tTc		beta-site APP-cleaving enzyme 1							56.0	46.0	49.0					11																	117166061		2201	4296	6497	SO:0001583	missense	23621	0	0					g.chr11:117166061G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.353C>T	chr11.hg19:g.117166061G>A	ENSP00000318585:p.Ser118Phe	0					BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F	p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	1	2	3	1.991067	P56817	BACE1_HUMAN		3	813	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	0	1	hg19	c.353C>T	CCDS8383.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.060153	0.93846	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.83	5.83	0.93111	5.83	5.83	0.93111	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.91198	0.4989	10	0.87932	D	0	.	19.1044	0.93287	0.0:0.0:1.0:0.0	rs17857093	18;18;118;118;118;118;118	F8W807;E9PE65;Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;.;.;BACE1_HUMAN;.;.;.	F	118;18;118;18;118;118;118	ENSP00000318585:S118F;ENSP00000431848:S118F;ENSP00000422461:S18F;ENSP00000402228:S118F;ENSP00000424536:S118F;ENSP00000403685:S118F	ENSP00000318585:S118F	S	-	2	0	0	BACE1	116671271	116671271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.631000	0.98424	2.756000	0.94617	0.655000	0.94253	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				31	31		155	154	0		1	1		0	0	37	0		1	9.999809e-01	0	5	0	83	0	31	155
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478																																						ENST00000278935.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(235-237)aaC>aaT		centrosomal protein 164kDa		C		1,4401	2.1+/-5.4	0,1,2200	121.0	108.0	112.0		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	22897	7	121412	42				g.chr11:117222548C>T	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.237C>T	chr11.hg19:g.117222548C>T		0						p.N79N	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	1	2	3	1.991067	Q9UPV0	CE164_HUMAN		5	384	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	1	1	hg19	c.237C>T	CCDS31683.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.452650	1	0.170000	NM_014956			88	84		381	370	1		1	1		0	0	86	0		1	8.296416e-01	0	5	0	11	0	88	381
CEP164	22897	broad.mit.edu	37	11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	286					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552																																						ENST00000278935.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(856-858)aGc>aAc		centrosomal protein 164kDa							90.0	94.0	93.0					11																	117241887		2201	4296	6497	SO:0001583	missense	22897	0	0					g.chr11:117241887G>A	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.857G>A	chr11.hg19:g.117241887G>A	ENSP00000278935:p.Ser286Asn	0					CEP164_ENST00000533706.1_3'UTR	p.S286N	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	1	2	3	1.991067	Q9UPV0	CE164_HUMAN		9	1004	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	1	1	hg19	c.857G>A	CCDS31683.1	1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850435	0.32699	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60299	0.2	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.107151	0.42420	D	0.000712	T	0.69133	0.3077	M	0.71581	2.175	0.27288	N	0.957925	D;P;D	0.57257	0.964;0.873;0.979	P;P;P	0.56563	0.637;0.544;0.801	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.5206	13.2253	0.59911	0.0:0.1592:0.8408:0.0	.	260;286;286	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	286;260;213	ENSP00000278935:S286N	ENSP00000278935:S286N	S	+	2	0	0	CEP164	116747097	116747097	0.868000	0.29978	0.837000	0.33122	0.058000	0.15608	2.306000	0.43673	2.732000	0.93576	0.650000	0.86243	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_014956			93	91		485	475	1		1	1		0	0	107	0		1	9.755935e-01	0	9	0	24	0	93	485
DSCAML1	57453	broad.mit.edu	37	11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1743					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602																																						ENST00000321322.6	1.000000	0.680000	1	7.900000e-01	0.910000	0.905129	0.910000	1.000000																										0				110						c.(5407-5409)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							145.0	138.0	141.0					11																	117302397		2201	4296	6497	SO:0001583	missense	57453	1	121406	19				g.chr11:117302397G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5407C>T	chr11.hg19:g.117302397G>A	ENSP00000315465:p.Arg1803Trp	0					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	p.R1803W	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		31	5408	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.5407C>T	CCDS8384.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675749	0.67928	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66099	-0.15;-0.19	4.82	4.82	0.62117	4.82	4.82	0.62117	.	.	.	.	.	T	0.65365	0.2684	N	0.24115	0.695	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.68659	-0.5350	9	0.87932	D	0	.	11.7516	0.51852	0.0:0.0:0.7044:0.2956	.	1743	Q8TD84	DSCL1_HUMAN	W	1533;1803;1510	ENSP00000434335:R1533W;ENSP00000315465:R1803W	ENSP00000315465:R1803W	R	-	1	2	2	DSCAML1	116807607	116807607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.224000	0.42945	2.499000	0.84300	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-2.879461	1	0.170000	NM_020693			48	47		572	556	0		1			0	0	117	0		1	0	0	0	0	0	0	48	572
DSCAML1	57453	broad.mit.edu	37	11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1682					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488																																						ENST00000321322.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				110						c.(5224-5226)Atc>Ctc		Down syndrome cell adhesion molecule like 1							186.0	147.0	160.0					11																	117303203		2201	4296	6497	SO:0001583	missense	57453	0	0					g.chr11:117303203T>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5224A>C	chr11.hg19:g.117303203T>G	ENSP00000315465:p.Ile1742Leu	0					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	p.I1742L	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		30	5225	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.5224A>C	CCDS8384.1	1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674435	0.47781	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62364	0.07;0.03	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	T	0.40522	0.1120	N	0.08118	0	0.39866	D	0.973441	B	0.06786	0.001	B	0.10450	0.005	T	0.34725	-0.9817	9	0.27785	T	0.31	.	10.5674	0.45181	0.1441:0.0:0.0:0.8559	.	1682	Q8TD84	DSCL1_HUMAN	L	1472;1742;1449	ENSP00000434335:I1472L;ENSP00000315465:I1742L	ENSP00000315465:I1742L	I	-	1	0	0	DSCAML1	116808413	116808413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	2.097000	0.63578	0.482000	0.46254	ATC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_020693			57	54		351	337	1		1	0		0	0	77	0		1	2.030740e-02	0	0	0	2	0	57	351
DSCAML1	57453	broad.mit.edu	37	11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1487	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592																																						ENST00000321322.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(4639-4641)Ctc>Ttc		Down syndrome cell adhesion molecule like 1							166.0	147.0	153.0					11																	117308099		2201	4296	6497	SO:0001583	missense	57453	1	121412	33				g.chr11:117308099G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4639C>T	chr11.hg19:g.117308099G>A	ENSP00000315465:p.Leu1547Phe	0					DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	p.L1547F	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		26	4640	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.4639C>T	CCDS8384.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742166	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54479	0.57;0.57	4.45	4.45	0.53987	4.45	4.45	0.53987	Fibronectin, type III (4);	.	.	.	.	T	0.68659	0.3025	M	0.75447	2.3	0.58432	D	0.999995	P	0.49185	0.92	P	0.57620	0.824	T	0.71244	-0.4650	9	0.44086	T	0.13	.	17.4654	0.87631	0.0:0.0:1.0:0.0	.	1487	Q8TD84	DSCL1_HUMAN	F	1277;1547;1254	ENSP00000434335:L1277F;ENSP00000315465:L1547F	ENSP00000315465:L1547F	L	-	1	0	0	DSCAML1	116813309	116813309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.195000	0.70347	0.655000	0.94253	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	0	1		16	2	2	1		1	1	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_020693			71	70		382	370	1		1	0		1	0	95	0		1	0	0	0	0	1	0	71	382
DSCAML1	57453	broad.mit.edu	37	11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627																																						ENST00000321322.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(1234-1236)aCg>aTg		Down syndrome cell adhesion molecule like 1							97.0	82.0	87.0					11																	117392003		2201	4296	6497	SO:0001583	missense	57453	0	0					g.chr11:117392003G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1235C>T	chr11.hg19:g.117392003G>A	ENSP00000315465:p.Thr412Met	0					DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	p.T412M	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		6	1236	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.1235C>T	CCDS8384.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193169	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30182	1.54;1.54	4.67	4.67	0.58626	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51873	0.1700	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.66847	0.912;0.947	T	0.55945	-0.8060	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	142;352	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	142;412;119	ENSP00000434335:T142M;ENSP00000315465:T412M	ENSP00000315465:T412M	T	-	2	0	0	DSCAML1	116897213	116897213	1.000000	0.71417	0.942000	0.38095	0.958000	0.62258	6.316000	0.72857	2.417000	0.82017	0.609000	0.83330	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-4.101446	1	0.170000	NM_020693			128	126		466	460	1		1	0		0	0	107	0		1	4.697400e-02	0	0	0	2	0	128	466
DSCAML1	57453	broad.mit.edu	37	11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	182	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547																																						ENST00000321322.6	1.000000	0.310000	7.100000e-01	4.100000e-01	0.540000	0.571369	0.540000	0.530000																										0				110						c.(724-726)Ctg>Atg		Down syndrome cell adhesion molecule like 1							99.0	88.0	92.0					11																	117403205		2201	4296	6497	SO:0001583	missense	57453	0	0					g.chr11:117403205G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.724C>A	chr11.hg19:g.117403205G>T	ENSP00000315465:p.Leu242Met	0					DSCAML1_ENST00000527706.1_Intron	p.L242M	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		4	725	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.724C>A	CCDS8384.1	0	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211823	0.79240	.	.	ENSG00000177103	ENST00000321322	D	0.92149	-2.98	4.88	4.88	0.63580	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96213	0.8765	M	0.91972	3.26	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96062	0.9039	9	0.87932	D	0	.	9.6034	0.39619	0.1263:0.0:0.8737:0.0	.	182	Q8TD84	DSCL1_HUMAN	M	242	ENSP00000315465:L242M	ENSP00000315465:L242M	L	-	1	2	2	DSCAML1	116908415	116908415	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.166000	0.71896	2.688000	0.91661	0.655000	0.94253	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-2.887082	1	0.170000	NM_020693			15	15		319	307	0		1			0	0	58	0		9.998424e-01	0	0	0	0	0	0	15	319
DSCAML1	57453	broad.mit.edu	37	11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	118	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587																																						ENST00000321322.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(532-534)cGc>cAc		Down syndrome cell adhesion molecule like 1							91.0	92.0	92.0					11																	117651219		2201	4296	6497	SO:0001583	missense	57453	0	0					g.chr11:117651219C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.533G>A	chr11.hg19:g.117651219C>T	ENSP00000315465:p.Arg178His	0					DSCAML1_ENST00000527706.1_Intron	p.R178H	NM_020693.2	NP_065744.2	1	2	3	1.991067	Q8TD84	DSCL1_HUMAN		2	534	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	1	1	hg19	c.533G>A	CCDS8384.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.363367|1.363367	0.24684|0.24684	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000525836|ENST00000321322	.|T	.|0.39997	.|1.05	5.1|5.1	5.1|5.1	0.69264|0.69264	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.01771|0.01771	-0.73|-0.73	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.14783|0.14783	-1.0460|-1.0460	6|9	0.87932|0.09843	D|T	0|0.71	.|.	18.9124|18.9124	0.92491|0.92491	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q8TD84	.|DSCL1_HUMAN	T|H	20|178	.|ENSP00000315465:R178H	ENSP00000436387:A20T|ENSP00000315465:R178H	A|R	-|-	1|2	0|0	0|0	DSCAML1|DSCAML1	117156429|117156429	117156429|117156429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.436000|2.436000	0.44819|0.44819	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	GCG|CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-3.251124	1	0.170000	NM_020693			141	141		650	635	1		1	0		0	0	108	0		1	0	0	0	0	1	0	141	650
IL10RA	3587	broad.mit.edu	37	11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T	rs368287711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000545409.1_Intron	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101			R -> W (in IBD28). {ECO:0000269|PubMed:23839161, ECO:0000269|PubMed:24785691}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577																																						ENST00000227752.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993050	0.990000	1.000000																										0				19						c.(301-303)Cgg>Tgg		interleukin 10 receptor, alpha							76.0	65.0	69.0					11																	117860269		2200	4296	6496	SO:0001583	missense	3587	1	121412	37				g.chr11:117860269C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.301C>T	chr11.hg19:g.117860269C>T	ENSP00000227752:p.Arg101Trp	0					IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W	p.R101W	NM_001558.3	NP_001549.2	1	2	3	1.991067	Q13651	I10R1_HUMAN		3	421	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	1	1	hg19	c.301C>T	CCDS8388.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018503	0.75275	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.77489	-1.1;-1.1	4.95	3.98	0.46160	4.95	3.98	0.46160	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.065623	0.64402	D	0.000007	D	0.86293	0.5898	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87381	0.2357	10	0.72032	D	0.01	-30.1496	12.4145	0.55486	0.1665:0.8335:0.0:0.0	.	81;101	F5GYV8;Q13651	.;I10R1_HUMAN	W	101;81;81	ENSP00000227752:R101W;ENSP00000441397:R81W	ENSP00000227752:R101W	R	+	1	2	2	IL10RA	117365479	117365479	0.998000	0.40836	0.997000	0.53966	0.013000	0.08279	0.814000	0.27239	2.461000	0.83175	0.563000	0.77884	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.966611	1	0.170000				37	37		318	314	1		1	1		0	0	74	0		1	9.993729e-01	0	2	0	96	0	37	318
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A	rs576666901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19221	0.002		0.0	False		,,,				2504	0.0					ENST00000227752.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(850-852)cGt>cAt		interleukin 10 receptor, alpha							90.0	73.0	79.0					11																	117869470		2200	4296	6496	SO:0001583	missense	3587	8	121412	41				g.chr11:117869470G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.851G>A	chr11.hg19:g.117869470G>A	ENSP00000227752:p.Arg284His	0					IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H	p.R284H	NM_001558.3	NP_001549.2	1	2	3	1.991067	Q13651	I10R1_HUMAN		7	971	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	1	1	hg19	c.851G>A	CCDS8388.1	1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152097	0.21371	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24538	1.85;1.85;1.85	5.26	-3.16	0.05217	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.44597	0.454;0.266	T	0.21314	-1.0249	10	0.15499	T	0.54	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	H	284;264;135;264	ENSP00000227752:R284H;ENSP00000441397:R264H;ENSP00000443019:R135H	ENSP00000227752:R284H	R	+	2	0	0	IL10RA	117374680	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				52	50		249	240	1		1	1		0	0	45	0		1	1	0	5	0	165	0	52	249
TMPRSS4	56649	broad.mit.edu	37	11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000437212.3	+	5	630	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.A137V			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	139	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)			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)		GCTGAGACAGCCTGTAGGCAG	0.562																																						ENST00000437212.3	1.000000	0.760000	1	9.400000e-01	0.990000	0.975225	0.990000	1.000000																										0				19						c.(415-417)gCc>gTc		transmembrane protease, serine 4							75.0	57.0	63.0					11																	117975511		2200	4296	6496	SO:0001583	missense	56649	0	0					g.chr11:117975511C>T	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.416C>T	chr11.hg19:g.117975511C>T	ENSP00000416037:p.Ala139Val	0					TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.A137V	p.A139V			1	2	3	1.991067	Q9NRS4	TMPS4_HUMAN		5	630	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	1	1	hg19	c.416C>T	CCDS31684.1	1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820641	0.50633	.	.	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	5.16	5.16	0.70880	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000026	T	0.65984	0.2744	M	0.65975	2.015	0.46167	D	0.998909	P;D;D;D	0.89917	0.929;1.0;0.997;1.0	P;D;P;D	0.97110	0.591;0.997;0.788;1.0	T	0.63734	-0.6570	10	0.33940	T	0.23	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	114;99;139;137	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	V	137;99;139;139;86	ENSP00000435184:A137V;ENSP00000429209:A99V;ENSP00000416037:A139V;ENSP00000430547:A139V;ENSP00000428407:A86V	ENSP00000416037:A139V	A	+	2	0	0	TMPRSS4	117480721	117480721	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.113000	0.64640	2.403000	0.81681	0.557000	0.71058	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.318800	1	0.170000	NM_019894			23	23		212	207	1		1	1		0	0	53	0		9.999994e-01	1	0	171	0	862	0	23	212
SCN4B	6330	broad.mit.edu	37	11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000423160.2_5'Flank|SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	25					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTACGGGGAGCAGGAAGAGG	0.607											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324727.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(73-75)Ctc>Ttc		sodium channel, voltage-gated, type IV, beta subunit	Valproic Acid(DB00313)|Zonisamide(DB00909)						93.0	82.0	86.0					11																	118015933		2200	4296	6496	SO:0001583	missense	6330	0	0					g.chr11:118015933G>A	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.73C>T	chr11.hg19:g.118015933G>A	ENSP00000322460:p.Leu25Phe	0		OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	p.L25F	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	1	2	3	1.991067	Q8IWT1	SCN4B_HUMAN		2	219	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	1	1	hg19	c.73C>T	CCDS8389.1	1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036964	0.19669	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	0.672	0.17935	5.26	0.672	0.17935	.	0.656184	0.14631	N	0.307802	D	0.92522	0.7625	L	0.35723	1.085	0.23798	N	0.996815	B	0.06786	0.001	B	0.06405	0.002	T	0.81810	-0.0762	10	0.11794	T	0.64	-22.7509	3.3839	0.07264	0.117:0.4645:0.2591:0.1595	.	25	Q8IWT1	SCN4B_HUMAN	F	25	ENSP00000322460:L25F	ENSP00000322460:L25F	L	-	1	0	0	SCN4B	117521143	117521143	0.997000	0.39634	0.956000	0.39512	0.350000	0.29205	0.501000	0.22578	0.592000	0.29728	-0.175000	0.13238	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				68	67		296	281	1		1	0		0	0	59	0		1	5.262541e-01	0	0	0	9	0	68	296
SCN2B	6327	broad.mit.edu	37	11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	94	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|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)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGAAACCGCTCCAGCTTC	0.542																																						ENST00000278947.5	1.000000	0.620000	1	7.600000e-01	0.940000	0.901247	0.940000	1.000000																										0				7						c.(280-282)Cgg>Tgg		sodium channel, voltage-gated, type II, beta subunit	Valproic Acid(DB00313)|Zonisamide(DB00909)						89.0	75.0	80.0					11																	118038968		2200	4296	6496	SO:0001583	missense	6327	2	121412	33				g.chr11:118038968G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.280C>T	chr11.hg19:g.118038968G>A	ENSP00000278947:p.Arg94Trp	0						p.R94W	NM_004588.4	NP_004579.1	1	2	3	1.991067	O60939	SCN2B_HUMAN		3	521	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	1	1	hg19	c.280C>T	CCDS8390.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290144	0.80914	.	.	ENSG00000149575	ENST00000278947	T	0.68181	-0.31	4.9	1.91	0.25777	4.9	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174836	0.51477	D	0.000083	T	0.77412	0.4126	M	0.80616	2.505	0.58432	D	0.999999	D	0.71674	0.998	P	0.57502	0.822	T	0.79600	-0.1736	10	0.62326	D	0.03	-27.973	13.5706	0.61845	0.0:0.0:0.5934:0.4066	.	94	O60939	SCN2B_HUMAN	W	94	ENSP00000278947:R94W	ENSP00000278947:R94W	R	-	1	2	2	SCN2B	117544178	117544178	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.036000	0.64164	0.237000	0.21200	-0.169000	0.13324	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.221881	1	0.170000	NM_004588			24	24		281	272	0		1			0	0	59	0		9.999996e-01	0	0	0	0	0	0	24	281
SCN2B	6327	broad.mit.edu	37	11	118039321	118039321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	72	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|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)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGTTGTTGCACTCCTGGT	0.607																																						ENST00000278947.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(214-216)tgC>tgT		sodium channel, voltage-gated, type II, beta subunit	Valproic Acid(DB00313)|Zonisamide(DB00909)						181.0	171.0	175.0					11																	118039321		2200	4296	6496	SO:0001819	synonymous_variant	6327	0	0					g.chr11:118039321G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.216C>T	chr11.hg19:g.118039321G>A		0						p.C72C	NM_004588.4	NP_004579.1	1	2	3	1.991067	O60939	SCN2B_HUMAN		2	457	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	O75302|Q9UNN3	Silent	SNP	ENST00000278947.5	1	1	hg19	c.216C>T	CCDS8390.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-20.000000	1	0.170000	NM_004588			163	160		638	627	1		1	0		0	0	140	0		1	0	0	0	0	1	0	163	638
AMICA1	120425	broad.mit.edu	37	11	118068807	118068807	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000356289.5	-	8	1085		c.e8-1		AMICA1_ENST00000292067.7_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						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)			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)		ATTCACTGAACTGCAAGACAT	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356289.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.e8-1		adhesion molecule, interacts with CXADR antigen 1							146.0	133.0	137.0					11																	118068807		2200	4296	6496	SO:0001630	splice_region_variant	120425	0	0					g.chr11:118068807C>A	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.912-1G>T	chr11.hg19:g.118068807C>A		0		OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000292067.7_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site		NM_001098526.1	NP_001091996.1	1	2	3	1.991067	Q86YT9	JAML1_HUMAN		8	1085	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Splice_Site	SNP	ENST00000356289.5	1	1	hg19		CCDS41723.1	1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880212	0.33162	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9351	0.52868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	AMICA1	117574017	117574017	0.983000	0.35010	0.958000	0.39756	0.021000	0.10359	3.018000	0.49625	2.527000	0.85204	0.650000	0.86243	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_153206	Intron		96	91		428	423	1		1	0		0	0	103	0		1	0	0	0	0	1	0	96	428
CD3E	916	broad.mit.edu	37	11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	27					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393																																						ENST00000361763.4	1.000000	0.550000	1	8.900000e-01	0.990000	0.950309	0.990000	1.000000																										0				8						c.(79-81)Gaa>Taa		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						80.0	66.0	71.0					11																	118179150		2192	4293	6485	SO:0001587	stop_gained	916	0	0					g.chr11:118179150G>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.79G>T	chr11.hg19:g.118179150G>T	ENSP00000354566:p.Glu27*	0					CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	p.E27*	NM_000733.3	NP_000724.1	1	2	3	1.991067	P07766	CD3E_HUMAN		4	370	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	A8K997	Nonsense_Mutation	SNP	ENST00000361763.4	0	1	hg19	c.79G>T	CCDS31685.1	1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135106	0.56828	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.19	0.081	0.14423	4.19	0.081	0.14423	.	3.197390	0.00919	N	0.002561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.1578	0.10270	0.2967:0.1715:0.5318:0.0	.	.	.	.	X	27	.	ENSP00000354566:E27X	E	+	1	0	0	CD3E	117684360	117684360	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.268000	0.02836	0.027000	0.15297	0.561000	0.74099	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-11.133660	1	0.170000	NM_000733			5	5		37	37	0		1	0		0	0	27	0		9.415956e-01	9.974838e-01	0	0	0	105	0	5	37
UBE4A	9354	broad.mit.edu	37	11	118247314	118247314	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000431736.2	+	10	1569	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A											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)		CCTGTTTGATCCCAGCTGTGC	0.418																																						ENST00000431736.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1495-1497)atC>atA		ubiquitination factor E4A							117.0	119.0	118.0					11																	118247314		2200	4296	6496	SO:0001819	synonymous_variant	9354	0	0					g.chr11:118247314C>A	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.1497C>A	chr11.hg19:g.118247314C>A		0					UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I	p.I499I			1	2	3	1.991067				10	1569	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		Silent	SNP	ENST00000431736.2	1	1	hg19	c.1497C>A	CCDS8396.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_004788			106	98		454	434	0		1	1		0	0	104	0		1	9.999877e-01	0	8	0	63	0	106	454
UBE4A	9354	broad.mit.edu	37	11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000431736.2	+	19	3140	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K	UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K|UBE4A_ENST00000252108.3_Missense_Mutation_p.R1016K					ubiquitination factor E4A											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)		ACTGTGGATAGATCCACCATT	0.458																																						ENST00000431736.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3067-3069)aGa>aAa		ubiquitination factor E4A							162.0	148.0	153.0					11																	118263583		2200	4296	6496	SO:0001583	missense	9354	0	0					g.chr11:118263583G>A	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.3068G>A	chr11.hg19:g.118263583G>A	ENSP00000387362:p.Arg1023Lys	0					UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K|UBE4A_ENST00000252108.3_Missense_Mutation_p.R1016K	p.R1023K			1	2	3	1.991067				19	3140	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		Missense_Mutation	SNP	ENST00000431736.2	1	1	hg19	c.3068G>A	CCDS8396.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.884896	0.97068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.68181	-0.27;-0.31	5.92	5.92	0.95590	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.82823	2.61	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.51866	0.682;0.6	T	0.80625	-0.1299	10	0.52906	T	0.07	-8.8278	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1016;1023	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1016;1023;488	ENSP00000252108:R1016K;ENSP00000387362:R1023K	ENSP00000252108:R1016K	R	+	2	0	0	UBE4A	117768793	117768793	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_004788			100	97		466	461	1		1	1		0	0	119	0		1	1	0	41	0	72	0	100	466
IFT46	56912	broad.mit.edu	37	11	118425964	118425964	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264021.3	-	5	677	c.259A>C	c.(259-261)Agg>Cgg	p.R87R	IFT46_ENST00000530872.1_Splice_Site_p.R138R|IFT46_ENST00000264020.2_Splice_Site_p.R138R	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	87					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463																																						ENST00000264021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(259-261)Agg>Cgg		intraflagellar transport 46							108.0	106.0	107.0					11																	118425964		2200	4295	6495	SO:0001630	splice_region_variant	56912	0	0					g.chr11:118425964T>G	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.260+1A>C	chr11.hg19:g.118425964T>G		0					IFT46_ENST00000530872.1_Splice_Site_p.R138R|IFT46_ENST00000264020.2_Splice_Site_p.R138R	p.R87R	NM_001168618.1	NP_001162089.1	1	2	3	1.991067	Q9NQC8	IFT46_HUMAN		5	677	-			A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	1	0	hg19	c.259A>C	CCDS53718.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_020153	Silent		60	59		291	283	1		1	1		0	0	74	0		1	9.999998e-01	0	22	0	92	0	60	291
ARCN1	372	broad.mit.edu	37	11	118453977	118453977	+	Silent	SNP	C	C	T	rs200580338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000264028.4	+	3	446	c.351C>T	c.(349-351)gtC>gtT	p.V117V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V|ARCN1_ENST00000359415.4_Silent_p.V158V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	117					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)			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)		ATGAAATTGTCGCACTGGGAT	0.428																																						ENST00000264028.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(349-351)gtC>gtT		archain 1		C	,	0,4400		0,0,2200	147.0	141.0	143.0		87,351	-11.6	0.2	11		143	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	ARCN1	NM_001142281.1,NM_001655.4	,	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	,	29/424,117/512	118453977	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	372	5	121412	41				g.chr11:118453977C>T	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.351C>T	chr11.hg19:g.118453977C>T		0					ARCN1_ENST00000359415.4_Silent_p.V158V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V	p.V117V	NM_001655.4	NP_001646.2	1	2	3	1.991067	P48444	COPD_HUMAN		3	446	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	1	1	hg19	c.351C>T	CCDS8400.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.093078	1	0.170000				70	70		321	318	1		1	1		0	0	67	0		1	1	0	149	0	413	0	70	321
ARCN1	372	broad.mit.edu	37	11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000264028.4	+	4	573	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C|ARCN1_ENST00000359415.4_Missense_Mutation_p.R201C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	160					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)			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)		GGCTGAGATGCGTCGTAAAGC	0.443																																						ENST00000264028.4	1.000000	0.730000	1	8.600000e-01	0.990000	0.950597	0.990000	1.000000																										0				13						c.(478-480)Cgt>Tgt		archain 1							120.0	106.0	111.0					11																	118454554		2200	4295	6495	SO:0001583	missense	372	2	121412	34				g.chr11:118454554C>T	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.478C>T	chr11.hg19:g.118454554C>T	ENSP00000264028:p.Arg160Cys	0					ARCN1_ENST00000359415.4_Missense_Mutation_p.R201C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	p.R160C	NM_001655.4	NP_001646.2	1	2	3	1.991067	P48444	COPD_HUMAN		4	573	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	1	1	hg19	c.478C>T	CCDS8400.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020500	0.75275	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33216	1.43;1.42;1.43	6.01	2.78	0.32641	6.01	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.989	P;P;P	0.58266	0.548;0.836;0.517	T	0.57075	-0.7873	10	0.87932	D	0	-12.0251	16.3526	0.83220	0.3535:0.6465:0.0:0.0	.	72;201;160	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	72;201;160;160	ENSP00000376599:R72C;ENSP00000352385:R201C;ENSP00000264028:R160C	ENSP00000264028:R160C	R	+	1	0	0	ARCN1	117959764	117959764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.781000	0.38644	0.846000	0.35142	-0.175000	0.13238	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-2.744762	1	0.170000				38	39		406	395	1		1	1		0	0	85	0		1	1	0	68	0	534	0	38	406
PHLDB1	23187	broad.mit.edu	37	11	118498785	118498785	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	416								p.L416V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637																																						ENST00000361417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L416V(1)	large_intestine(1)	46						c.(1246-1248)Cta>Tta		pleckstrin homology-like domain, family B, member 1							72.0	75.0	74.0					11																	118498785		2200	4295	6495	SO:0001819	synonymous_variant	23187	0	0					g.chr11:118498785C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1246C>T	chr11.hg19:g.118498785C>T		0					PHLDB1_ENST00000356063.5_Silent_p.L416L	p.L416L	NM_015157.3	NP_055972.1	1	2	3	1.991067	Q86UU1	PHLB1_HUMAN		7	1657	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	1	1	hg19	c.1246C>T	CCDS8401.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	1	0	1		2	2	2	0		0	0	162		162	161	1	2.060000	-20.000000	1	0.170000	NM_015157			172	172		726	710	1		1	1		0	0	162	0		1	1	0	8	0	107	0	172	726
PHLDB1	23187	broad.mit.edu	37	11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627																																						ENST00000361417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2329-2331)caG>caT		pleckstrin homology-like domain, family B, member 1							90.0	77.0	81.0					11																	118502965		2200	4295	6495	SO:0001583	missense	23187	0	0					g.chr11:118502965G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2331G>T	chr11.hg19:g.118502965G>T	ENSP00000354498:p.Gln777His	0					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	p.Q777H	NM_015157.3	NP_055972.1	1	2	3	1.991067	Q86UU1	PHLB1_HUMAN		10	2742	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	1	1	hg19	c.2331G>T	CCDS8401.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557486	0.65425	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.32515	1.45;1.45	5.15	4.24	0.50183	5.15	4.24	0.50183	.	0.113485	0.64402	D	0.000008	T	0.45538	0.1347	L	0.42686	1.345	0.80722	D	1	D;D;D;B	0.76494	0.984;0.999;0.995;0.267	P;D;D;B	0.70935	0.73;0.971;0.919;0.086	T	0.32214	-0.9915	10	0.42905	T	0.14	-32.3819	13.8592	0.63550	0.0736:0.0:0.9264:0.0	.	521;777;777;777	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	777;536;99;777	ENSP00000354498:Q777H;ENSP00000348359:Q777H	ENSP00000348359:Q777H	Q	+	3	2	2	PHLDB1	118008175	118008175	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.264000	0.65513	1.182000	0.42928	-0.254000	0.11334	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_015157			51	49		249	245	1		1	1		0	0	66	0		1	1	0	7	0	149	0	51	249
PHLDB1	23187	broad.mit.edu	37	11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522																																						ENST00000361417.2	1.000000	0.770000	1	9.000000e-01	0.990000	0.966069	0.990000	1.000000																										0				46						c.(3775-3777)tgC>tgA		pleckstrin homology-like domain, family B, member 1							144.0	124.0	131.0					11																	118521155		2200	4295	6495	SO:0001587	stop_gained	23187	0	0					g.chr11:118521155C>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3777C>A	chr11.hg19:g.118521155C>A	ENSP00000354498:p.Cys1259*	0					PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	p.C1259*	NM_015157.3	NP_055972.1	1	2	3	1.991067	Q86UU1	PHLB1_HUMAN		21	4188	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	0	1	hg19	c.3777C>A	CCDS8401.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.804019	0.96967	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	.	.	.	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.941	16.4284	0.83832	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1033;623;1212;310;402	.	ENSP00000348359:C1212X	C	+	3	2	2	PHLDB1	118026365	118026365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.831000	0.55776	2.401000	0.81631	0.655000	0.94253	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-12.448150	1	0.170000	NM_015157			43	42		442	438	0		1	1		0	0	97	0		1	1	0	3	0	279	0	43	442
DDX6	1656	broad.mit.edu	37	11	118625471	118625471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000526070.2	-	13	1762	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000264018.4_Silent_p.L468L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	468	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428			T	IGH@	B-NHL																																	ENST00000526070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6				L	L	IGH@		B-NHL		0				13						c.(1402-1404)Ctg>Ttg		DEAD (Asp-Glu-Ala-Asp) box helicase 6							162.0	155.0	157.0					11																	118625471		1865	4099	5964	SO:0001819	synonymous_variant	1656	0	0					g.chr11:118625471G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1402C>T	chr11.hg19:g.118625471G>A		0					DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000264018.4_Silent_p.L468L	p.L468L	NM_001257191.1	NP_001244120.1	1	2	3	1.991067	P26196	DDX6_HUMAN		13	1762	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	Q5D048	Silent	SNP	ENST00000526070.2	1	1	hg19	c.1402C>T	CCDS44751.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	0	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_004397			116	113		586	579	1		1	1		0	0	110	0		1	1	0	58	0	218	0	116	586
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A	rs566574462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000334801.3	-	8	4826	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	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)			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)		TCGCCCATGCGCCCAGCCATG	0.692																																						ENST00000334801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				56						c.(3862-3864)Cgc>Tgc		B-cell CLL/lymphoma 9-like							22.0	22.0	22.0					11																	118769762		2200	4293	6493	SO:0001583	missense	283149	0	0					g.chr11:118769762G>A	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.3862C>T	chr11.hg19:g.118769762G>A	ENSP00000335320:p.Arg1288Cys	0					BCL9L_ENST00000526143.1_5'UTR	p.R1288C	NM_182557.2	NP_872363.1	1	2	3	1.991067	Q86UU0	BCL9L_HUMAN		8	4826	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	1	1	hg19	c.3862C>T	CCDS8403.1	1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566358	0.45694	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.64803	-0.12	3.08	3.08	0.35506	3.08	3.08	0.35506	.	0.179734	0.26159	N	0.025993	T	0.48840	0.1522	N	0.08118	0	0.58432	D	0.999997	D;B	0.65815	0.995;0.291	P;B	0.50754	0.649;0.022	T	0.55554	-0.8123	10	0.48119	T	0.1	-8.6842	12.4142	0.55483	0.0:0.0:1.0:0.0	.	1283;1288	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	1288;1251;534;1288;1243	ENSP00000335320:R1288C	ENSP00000335320:R1288C	R	-	1	0	0	BCL9L	118274972	118274972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.182000	0.50910	2.016000	0.59253	0.305000	0.20034	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_182557			26	26		98	94	1		1	1		0	0	19	0		1	9.999997e-01	0	30	0	73	0	26	98
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1045	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)			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)		GCCGCTAGGCGGGAGGGTACC	0.627																																						ENST00000334801.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.992807	0.990000	1.000000																										0				56						c.(3133-3135)cCg>cTg		B-cell CLL/lymphoma 9-like							27.0	31.0	30.0					11																	118770898		2200	4295	6495	SO:0001583	missense	283149	0	0					g.chr11:118770898G>A	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.3134C>T	chr11.hg19:g.118770898G>A	ENSP00000335320:p.Pro1045Leu	0					BCL9L_ENST00000526143.1_5'UTR	p.P1045L	NM_182557.2	NP_872363.1	1	2	3	1.991067	Q86UU0	BCL9L_HUMAN		7	4098	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	1	1	hg19	c.3134C>T	CCDS8403.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988417|2.988417	0.53934|0.53934	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.42513|.	0.97|.	4.38|4.38	4.38|4.38	0.52667|0.52667	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.43747|.	D|.	0.000530|.	T|T	0.46347|0.46347	0.1388|0.1388	N|N	0.11560|0.11560	0.145|0.145	0.46586|0.46586	D|D	0.999118|0.999118	D;D|.	0.61080|.	0.989;0.981|.	P;B|.	0.48840|.	0.592;0.388|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.87932|.	D|.	0|.	-12.8441|-12.8441	17.1466|17.1466	0.86767|0.86767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1045|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	L|C	1045;1008;338;1045;1045|65	ENSP00000335320:P1045L|.	ENSP00000335320:P1045L|.	P|R	-|-	2|1	0|0	0|0	BCL9L|BCL9L	118276108|118276108	118276108|118276108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	5.300000|5.300000	0.65721|0.65721	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCG|CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-3.076013	1	0.170000	NM_182557			23	23		181	175	1		1	1		0	0	30	0		9.999994e-01	9.999999e-01	0	74	0	165	0	23	181
BCL9L	283149	broad.mit.edu	37	11	118772082	118772082	+	Silent	SNP	C	C	T	rs149374315	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772082C>T	ENST00000334801.3	-	6	3334	c.2370G>A	c.(2368-2370)ccG>ccA	p.P790P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	790	Met-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)			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)		TCTGCTGCTGCGGGGTCATCT	0.607													C|||	29	0.00579073	0.0219	0.0	5008	,	,		18981	0.0		0.0	False		,,,				2504	0.0					ENST00000334801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2368-2370)ccG>ccA		B-cell CLL/lymphoma 9-like		C		97,4303	78.8+/-117.2	1,95,2104	136.0	83.0	101.0		2370	-11.3	0.0	11	dbSNP_134	101	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	BCL9L	NM_182557.2		1,96,6397	TT,TC,CC		0.0116,2.2045,0.7545		790/1500	118772082	98,12890	2200	4294	6494	SO:0001819	synonymous_variant	283149	241	121410	56				g.chr11:118772082C>T	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.2370G>A	chr11.hg19:g.118772082C>T		0					BCL9L_ENST00000526143.1_5'UTR	p.P790P	NM_182557.2	NP_872363.1	1	2	3	1.991067	Q86UU0	BCL9L_HUMAN		6	3334	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	1	0	hg19	c.2370G>A	CCDS8403.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-3.125431	1	0.170000	NM_182557			49	47		233	225	1		1	1		0	0	42	0		1	1	0	50	0	129	0	49	233
BCL9L	283149	broad.mit.edu	37	11	118772712	118772712	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	ENST00000334801.3	-	6	2704	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	580					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)			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)		TGGGCCCCCGCAGCTGCGCAC	0.647																																						ENST00000334801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999742	0.990000	1.000000																										0				56						c.(1738-1740)ctG>ctA		B-cell CLL/lymphoma 9-like							41.0	40.0	40.0					11																	118772712		2200	4295	6495	SO:0001819	synonymous_variant	283149	0	0					g.chr11:118772712C>T	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.1740G>A	chr11.hg19:g.118772712C>T		0					BCL9L_ENST00000526143.1_5'UTR	p.L580L	NM_182557.2	NP_872363.1	1	2	3	1.991067	Q86UU0	BCL9L_HUMAN		6	2704	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	1	1	hg19	c.1740G>A	CCDS8403.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_182557			24	24		136	136	1		1	1		0	0	23	0		9.999998e-01	9.999999e-01	0	51	0	112	0	24	136
BCL9L	283149	broad.mit.edu	37	11	118773616	118773616	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.836C>A	c.(835-837)gCc>gAc	p.A279D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	279					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)			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)		CACTTTAGGGGCCTGCAGAAG	0.677																																						ENST00000334801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999611	0.990000	1.000000																										0				56						c.(835-837)gCc>gAc		B-cell CLL/lymphoma 9-like							13.0	16.0	15.0					11																	118773616		2199	4294	6493	SO:0001630	splice_region_variant	283149	0	0					g.chr11:118773616G>T	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.835-1C>A	chr11.hg19:g.118773616G>T		0					BCL9L_ENST00000526143.1_5'UTR	p.A279D	NM_182557.2	NP_872363.1	1	2	3	1.991067	Q86UU0	BCL9L_HUMAN		6	1800	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Splice_Site	SNP	ENST00000334801.3	1	0	hg19	c.836C>A	CCDS8403.1	1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296060	0.23650	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65549	-0.16	4.1	2.22	0.28083	4.1	2.22	0.28083	.	0.000000	0.44902	D	0.000418	T	0.40473	0.1118	N	0.24115	0.695	0.27323	N	0.956973	P;B	0.35575	0.51;0.376	B;B	0.34931	0.192;0.094	T	0.21552	-1.0242	10	0.17832	T	0.49	-2.3448	6.8377	0.23945	0.2935:0.0:0.7065:0.0	.	274;279	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	279;242;279;279	ENSP00000335320:A279D	ENSP00000335320:A279D	A	-	2	0	0	BCL9L	118278826	118278826	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	3.457000	0.53007	0.403000	0.25479	0.305000	0.20034	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_182557	Missense_Mutation		18	18		91	87	0		1	1		0	0	23	0		9.999856e-01	9.973999e-01	0	13	0	40	0	18	91
CCDC84	338657	broad.mit.edu	37	11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438																																						ENST00000334418.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				5						c.(415-417)tCc>tTc		coiled-coil domain containing 84							95.0	94.0	94.0					11																	118881506		2200	4295	6495	SO:0001583	missense	338657	0	0					g.chr11:118881506C>T	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.416C>T	chr11.hg19:g.118881506C>T	ENSP00000334767:p.Ser139Phe	0					CCDC84_ENST00000580556.1_3'UTR	p.S139F	NM_198489.1	NP_940891.1	1	2	3	1.991067	Q86UT8	CCD84_HUMAN		4	472	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		Missense_Mutation	SNP	ENST00000334418.1	1	1	hg19	c.416C>T	CCDS8405.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022775	0.75275	.	.	ENSG00000186166	ENST00000334418	T	0.45668	0.89	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.438718	0.25419	N	0.030807	T	0.46464	0.1394	L	0.44542	1.39	0.33287	D	0.563067	P	0.39883	0.693	P	0.46975	0.533	T	0.60994	-0.7152	10	0.62326	D	0.03	-13.1838	14.8245	0.70101	0.0:1.0:0.0:0.0	.	139	Q86UT8	CCD84_HUMAN	F	139	ENSP00000334767:S139F	ENSP00000334767:S139F	S	+	2	0	0	CCDC84	118386716	118386716	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	1.030000	0.30153	2.573000	0.86826	0.563000	0.77884	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.224593	1	0.170000	NM_198489			39	37		238	236	1		1	1		0	0	57	0		1	9.945933e-01	0	14	0	38	0	39	238
HYOU1	10525	broad.mit.edu	37	11	118919076	118919076	+	Silent	SNP	G	G	A	rs370754185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000404233.3	-	20	2384	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_ENST00000529972.1_Silent_p.L692L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	754					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627																																						ENST00000404233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2260-2262)Ctg>Ttg		hypoxia up-regulated 1		G	,	0,4400		0,0,2200	82.0	81.0	81.0		2260,2260	4.6	1.0	11		81	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	HYOU1	NM_001130991.1,NM_006389.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	754/1000,754/1000	118919076	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	10525	1	121412	29				g.chr11:118919076G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2260C>T	chr11.hg19:g.118919076G>A		0					HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Silent_p.L692L	p.L754L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	1	2	3	1.991067	Q9Y4L1	HYOU1_HUMAN		20	2384	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	1	1	hg19	c.2260C>T	CCDS8408.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_006389			107	106		423	420	1		1	1		0	0	110	0		1	1	0	153	0	380	0	107	423
VPS11	55823	broad.mit.edu	37	11	118949921	118949921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	ENST00000300793.6	+	15	2388	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	783					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGAAACAGAGCCAGCAGATTG	0.602																																						ENST00000300793.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				29						c.(2344-2346)agC>agT		vacuolar protein sorting 11 homolog (S. cerevisiae)							36.0	39.0	38.0					11																	118949921		2088	4223	6311	SO:0001819	synonymous_variant	55823	0	0					g.chr11:118949921C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2346C>T	chr11.hg19:g.118949921C>T		0					VPS11_ENST00000527798.1_3'UTR	p.S782S	NM_021729.4	NP_068375.3	1	2	3	1.991067	Q9H270	VPS11_HUMAN		15	2388	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	0	1	hg19	c.2346C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_021729			24	24		97	95	0		1	1		0	0	25	0		9.999998e-01	1	0	34	0	138	0	24	97
C2CD2L	9854	broad.mit.edu	37	11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000528586.1	+	4	374	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M			O14523	C2C2L_HUMAN	C2CD2-like	354						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617																																						ENST00000528586.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				13						c.(304-306)Ctg>Atg		C2CD2-like							44.0	49.0	47.0					11																	118983078		2200	4295	6495	SO:0001583	missense	9854	0	0					g.chr11:118983078C>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.304C>A	chr11.hg19:g.118983078C>A	ENSP00000433600:p.Leu102Met	0					C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M	p.L102M			1	2	3	1.991067	O14523	C2C2L_HUMAN		4	374	+			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	1	1	hg19	c.304C>A		1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193660	0.58017	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.248717	0.34200	N	0.004165	T	0.40347	0.1113	L	0.27053	0.805	0.40008	D	0.975241	P;P	0.37158	0.585;0.585	P;P	0.48425	0.577;0.577	T	0.19160	-1.0314	10	0.31617	T	0.26	-18.7603	11.3936	0.49827	0.0:0.9181:0.0:0.0819	.	354;354	O14523;O14523-2	C2C2L_HUMAN;.	M	354;102	ENSP00000338885:L354M;ENSP00000433600:L102M	ENSP00000338885:L354M	L	+	1	2	2	C2CD2L	118488288	118488288	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.738000	0.26158	2.731000	0.93534	0.591000	0.81541	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014807			38	37		214	211	1		1	1		0	0	51	0		1	9.715576e-01	0	5	0	30	0	38	214
C2CD2L	9854	broad.mit.edu	37	11	118983574	118983574	+	Silent	SNP	C	C	T	rs367672186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000528586.1	+	6	691	c.621C>T	c.(619-621)gaC>gaT	p.D207D	C2CD2L_ENST00000336702.3_Silent_p.D459D			O14523	C2C2L_HUMAN	C2CD2-like	459						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCGTATAGACGGCAAATTAG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.0		0.0	False		,,,				2504	0.001					ENST00000528586.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.993193	0.990000	1.000000																										0				13						c.(619-621)gaC>gaT		C2CD2-like		C		0,4400		0,0,2200	56.0	47.0	50.0		1377	1.3	1.0	11		50	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		459/708	118983574	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	9854	13	121412	40				g.chr11:118983574C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.621C>T	chr11.hg19:g.118983574C>T		0					C2CD2L_ENST00000336702.3_Silent_p.D459D	p.D207D			1	2	3	1.991067	O14523	C2C2L_HUMAN		6	691	+			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	1	1	hg19	c.621C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-7.904426	1	0.170000	NM_014807			30	30		248	240	1		1	1		0	0	59	0		1	9.931972e-01	0	7	0	60	0	30	248
C2CD2L	9854	broad.mit.edu	37	11	118984415	118984415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000528586.1	+	7	796	c.726C>T	c.(724-726)agC>agT	p.S242S	C2CD2L_ENST00000336702.3_Silent_p.S494S			O14523	C2C2L_HUMAN	C2CD2-like	494						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597																																						ENST00000528586.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(724-726)agC>agT		C2CD2-like							91.0	89.0	90.0					11																	118984415		2200	4295	6495	SO:0001819	synonymous_variant	9854	0	0					g.chr11:118984415C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.726C>T	chr11.hg19:g.118984415C>T		0					C2CD2L_ENST00000336702.3_Silent_p.S494S	p.S242S			1	2	3	1.991067	O14523	C2C2L_HUMAN		7	796	+			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	1	1	hg19	c.726C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_014807			72	70		351	348	0		1	1		0	0	81	0		1	9.999463e-01	0	17	0	55	0	72	351
C2CD2L	9854	broad.mit.edu	37	11	118984608	118984608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000528586.1	+	8	847	c.777A>G	c.(775-777)acA>acG	p.T259T	C2CD2L_ENST00000336702.3_Silent_p.T512T			O14523	C2C2L_HUMAN	C2CD2-like	511						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567																																						ENST00000528586.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(775-777)acA>acG		C2CD2-like							54.0	58.0	57.0					11																	118984608		2200	4295	6495	SO:0001819	synonymous_variant	9854	0	0					g.chr11:118984608A>G	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.777A>G	chr11.hg19:g.118984608A>G		0					C2CD2L_ENST00000336702.3_Silent_p.T512T	p.T259T			1	2	3	1.991067	O14523	C2C2L_HUMAN		8	847	+			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	1	1	hg19	c.777A>G		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_014807			54	51		285	278	1		1	1		0	0	74	0		1	9.994891e-01	0	10	0	51	0	54	285
HINFP	25988	broad.mit.edu	37	11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000350777.2	+	6	809	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	249					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582																																						ENST00000350777.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(745-747)cGc>cAc		histone H4 transcription factor							104.0	98.0	100.0					11																	119003275		2200	4295	6495	SO:0001583	missense	25988	2	121412	39				g.chr11:119003275G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.746G>A	chr11.hg19:g.119003275G>A	ENSP00000318085:p.Arg249His	0					HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	1	2	3	1.991067	Q9BQA5	HINFP_HUMAN		6	809	+			B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	1	1	hg19	c.746G>A	CCDS8414.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015527	0.93404	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.02085	4.46;4.46	5.63	5.63	0.86233	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	D	0.000000	T	0.14917	0.0360	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00038	-1.2244	10	0.87932	D	0	-29.5397	18.6818	0.91548	0.0:0.0:1.0:0.0	.	249	Q9BQA5	HINFP_HUMAN	H	249	ENSP00000318085:R249H;ENSP00000436815:R249H	ENSP00000318085:R249H	R	+	2	0	0	HINFP	118508485	118508485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.665000	0.90641	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.250363	1	0.170000	NM_015517			100	100		474	449	1		1	1		0	0	112	0		1	9.972396e-01	0	8	0	36	0	100	474
HINFP	25988	broad.mit.edu	37	11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000350777.2	+	7	886	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	275					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAACCACATGCGCTTTCGTCA	0.542																																						ENST00000350777.2	1.000000	0.220000	4.700000e-01	2.900000e-01	0.370000	0.400641	0.370000	0.360000																										0				23						c.(823-825)Cgc>Tgc		histone H4 transcription factor							127.0	119.0	122.0					11																	119003439		2200	4295	6495	SO:0001583	missense	25988	0	0					g.chr11:119003439C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.823C>T	chr11.hg19:g.119003439C>T	ENSP00000318085:p.Arg275Cys	0					HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	1	2	3	1.991067	Q9BQA5	HINFP_HUMAN		7	886	+			B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	1	1	hg19	c.823C>T	CCDS8414.1	0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217362	0.79352	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048851	0.85682	D	0.000000	T	0.80555	0.4645	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.83168	-0.0095	10	0.87932	D	0	-32.0835	19.8599	0.96779	0.0:1.0:0.0:0.0	.	275	Q9BQA5	HINFP_HUMAN	C	275	ENSP00000318085:R275C;ENSP00000436815:R275C	ENSP00000318085:R275C	R	+	1	0	0	HINFP	118508649	118508649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.682000	0.68182	2.710000	0.92621	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	0	0	1		17	4	2	1		1	1	131		131	126	1	2.060000	-2.932978	1	0.170000	NM_015517			19	18		601	594	0		1	0		1	0	131	0		6.779165e-01	1.712042e-01	0	2	0	64	0	19	601
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542																																						ENST00000350777.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R356Q(1)	large_intestine(1)	23						c.(1066-1068)cGg>cAg		histone H4 transcription factor							160.0	139.0	146.0					11																	119003857		2200	4295	6495	SO:0001583	missense	25988	0	0					g.chr11:119003857G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1067G>A	chr11.hg19:g.119003857G>A	ENSP00000318085:p.Arg356Gln	0					HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	1	2	3	1.991067	Q9BQA5	HINFP_HUMAN		9	1130	+			B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	1	1	hg19	c.1067G>A	CCDS8414.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	5.62	5.62	0.85841	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	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	0	HINFP	118509067	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-2.356170	0	0.170000	NM_015517			132	128		574	563	1		1	1		0	0	128	0		1	9.992644e-01	0	14	0	34	0	132	574
HINFP	25988	broad.mit.edu	37	11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000350777.2	+	10	1324	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	421	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1261-1263)Gag>Aag		histone H4 transcription factor							64.0	65.0	65.0					11																	119004915		2200	4295	6495	SO:0001583	missense	25988	1	121412	34				g.chr11:119004915G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1261G>A	chr11.hg19:g.119004915G>A	ENSP00000318085:p.Glu421Lys	0		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_3'UTR	p.E421K	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	1	2	3	1.991067	Q9BQA5	HINFP_HUMAN		10	1324	+			B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	1	1	hg19	c.1261G>A	CCDS8414.1	1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491058	0.64074	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.085034	0.47455	D	0.000228	T	0.06142	0.0159	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	B	0.38194	0.267	T	0.34675	-0.9819	10	0.06494	T	0.89	-27.8494	17.3417	0.87298	0.0:0.0:1.0:0.0	.	421	Q9BQA5	HINFP_HUMAN	K	421	ENSP00000318085:E421K	ENSP00000318085:E421K	E	+	1	0	0	HINFP	118510125	118510125	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	5.614000	0.67695	2.779000	0.95612	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_015517			57	56		221	221	1		1	1		0	0	52	0		1	9.998991e-01	0	17	0	39	0	57	221
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	rs201390504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647																																						ENST00000449422.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T494M(1)	lung(1)	44						c.(1480-1482)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83.0	74.0	77.0		1481,1481	5.2	1.0	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137	6	121412	41				g.chr11:119030980C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1481C>T	chr11.hg19:g.119030980C>T	ENSP00000406874:p.Thr494Met	0					ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	p.T494M	NM_001142505.1	NP_001135977.1	1	2	3	1.991067	Q9H172	ABCG4_HUMAN		13	1669	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	1	1	hg19	c.1481C>T	CCDS8415.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	0	ABCG4	118536190	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-3.143654	1	0.170000	NM_022169			83	81		463	460	1		1	0		0	0	92	0		1	0	0	0	0	1	0	83	463
NLRX1	79671	broad.mit.edu	37	11	119045222	119045222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045222G>A	ENST00000409109.1	+	6	1497	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAAGTACGTGGGCCGCTATGG	0.572																																						ENST00000409109.1	1.000000	0.140000	3.100000e-01	1.800000e-01	0.230000	0.272377	0.230000	0.230000																										0				22						c.(910-912)Ggc>Agc		NLR family member X1							142.0	143.0	143.0					11																	119045222		2200	4295	6495	SO:0001583	missense	79671	3	121412	43				g.chr11:119045222G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.910G>A	chr11.hg19:g.119045222G>A	ENSP00000387334:p.Gly304Ser	0					NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S	p.G304S	NM_001282144.1	NP_001269073.1	1	2	3	1.991067	Q86UT6	NLRX1_HUMAN		6	1497	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	1	1	hg19	c.910G>A	CCDS8416.1	0	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507986	0.64410	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	N	0.04724	-0.175	0.45704	D	0.998615	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.625	T	0.73665	-0.3911	10	0.14656	T	0.56	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	304;304	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	304	ENSP00000386851:G304S;ENSP00000292199:G304S;ENSP00000386858:G304S;ENSP00000387334:G304S;ENSP00000433442:G304S	ENSP00000292199:G304S	G	+	1	0	0	NLRX1	118550432	118550432	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.171000	0.64996	2.884000	0.98904	0.655000	0.94253	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	0	0	1		2	2	2	0		0	0	182		182	182	1	2.060000	-2.403375	0	0.170000	NM_170722			19	19		944	918	0		1	0		0	0	182	0		9.999874e-01	1.509754e-01	0	1	0	32	0	19	944
NLRX1	79671	broad.mit.edu	37	11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	366	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGATAGCCGCTGCCTGCTT	0.612																																						ENST00000409109.1	1.000000	0.180000	4.800000e-01	2.600000e-01	0.350000	0.386603	0.350000	0.330000																										0				22						c.(1096-1098)Gct>Act		NLR family member X1		G	THR/ALA,THR/ALA	6,4394	11.4+/-27.6	0,6,2194	73.0	59.0	64.0		1096,1096	3.2	0.0	11	dbSNP_134	64	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	58,58	0,7,6488	AA,AG,GG		0.0116,0.1364,0.0539	benign,benign	366/976,366/922	119045408	7,12983	2200	4295	6495	SO:0001583	missense	79671	24	121412	45				g.chr11:119045408G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1096G>A	chr11.hg19:g.119045408G>A	ENSP00000387334:p.Ala366Thr	0					NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T	p.A366T	NM_001282144.1	NP_001269073.1	1	2	3	1.991067	Q86UT6	NLRX1_HUMAN		6	1683	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	1	1	hg19	c.1096G>A	CCDS8416.1	0	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984415	0.18889	0.001364	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	6.07	3.22	0.36961	6.07	3.22	0.36961	.	0.070594	0.64402	N	0.000017	T	0.48607	0.1509	N	0.16201	0.385	0.38241	D	0.941324	B;B	0.30793	0.295;0.108	B;B	0.23419	0.046;0.024	T	0.39522	-0.9610	10	0.20046	T	0.44	.	11.405	0.49892	0.1942:0.0:0.8058:0.0	.	366;366	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	366	ENSP00000386851:A366T;ENSP00000292199:A366T;ENSP00000386858:A366T;ENSP00000387334:A366T;ENSP00000433442:A366T	ENSP00000292199:A366T	A	+	1	0	0	NLRX1	118550618	118550618	0.997000	0.39634	0.007000	0.13788	0.320000	0.28249	3.053000	0.49901	0.459000	0.27016	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	0	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-3.455639	1	0.170000	NM_170722			12	12		405	394	0		1	1		0	0	94	0		9.989928e-01	3.163722e-01	0	2	0	35	0	12	405
PDZD3	79849	broad.mit.edu	37	11	119057350	119057350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119057350G>T	ENST00000531114.1	+	2	1028	c.479G>T	c.(478-480)aGg>aTg	p.R160M	PDZD3_ENST00000392817.2_Missense_Mutation_p.R160M|PDZD3_ENST00000355547.5_Missense_Mutation_p.R94M|PDZD3_ENST00000525131.1_Missense_Mutation_p.R81M|PDZD3_ENST00000322712.4_Missense_Mutation_p.R94M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	160	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GAAGGAGACAGGATCCTGGCG	0.607																																						ENST00000531114.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(478-480)aGg>aTg		PDZ domain containing 3							67.0	43.0	51.0					11																	119057350		2200	4295	6495	SO:0001583	missense	79849	0	0					g.chr11:119057350G>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.479G>T	chr11.hg19:g.119057350G>T	ENSP00000431164:p.Arg160Met	0					PDZD3_ENST00000392817.2_Missense_Mutation_p.R160M|PDZD3_ENST00000322712.4_Missense_Mutation_p.R94M|PDZD3_ENST00000525131.1_Missense_Mutation_p.R81M|PDZD3_ENST00000355547.5_Missense_Mutation_p.R94M	p.R160M			1	2	3	1.991067	Q86UT5	NHRF4_HUMAN		2	1028	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	1	0	hg19	c.479G>T		1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940897	0.73557	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.28	0.0424	0.14217	5.28	0.0424	0.14217	PDZ/DHR/GLGF (4);	0.319545	0.29861	N	0.011019	T	0.51958	0.1705	M	0.89163	3.01	0.35711	D	0.816381	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.71656	0.963;0.974;0.938;0.963	T	0.56739	-0.7929	10	0.62326	D	0.03	-3.0063	5.2049	0.15285	0.2015:0.0:0.5494:0.2491	.	81;160;94;94	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	M	81;160;94;94;94;160	ENSP00000434559:R81M;ENSP00000431164:R160M;ENSP00000347742:R94M;ENSP00000327107:R94M;ENSP00000376564:R160M	ENSP00000327107:R94M	R	+	2	0	0	PDZD3	118562560	118562560	0.075000	0.21258	0.853000	0.33588	0.974000	0.67602	1.594000	0.36697	-0.131000	0.11578	0.655000	0.94253	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_024791			35	34		167	164	0		1	1		0	0	51	0		1	8.011455e-02	0	2	0	1	0	35	167
MCAM	4162	broad.mit.edu	37	11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	618					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602																																						ENST00000264036.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1852-1854)Cca>Tca		melanoma cell adhesion molecule							102.0	100.0	101.0					11																	119181118		2199	4295	6494	SO:0001583	missense	4162	0	0					g.chr11:119181118G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1852C>T	chr11.hg19:g.119181118G>A	ENSP00000264036:p.Pro618Ser	0					MCAM_ENST00000392814.1_3'UTR	p.P618S	NM_006500.2	NP_006491.2	1	2	3	1.991067	P43121	MUC18_HUMAN		15	1866	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	1	1	hg19	c.1852C>T	CCDS31690.1	1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217456	0.22373	.	.	ENSG00000076706	ENST00000264036	T	0.54675	0.56	5.28	5.28	0.74379	5.28	5.28	0.74379	.	.	.	.	.	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	B	0.27450	0.179	B	0.25884	0.064	T	0.17258	-1.0375	9	0.02654	T	1	-8.3175	14.1784	0.65557	0.0:0.1499:0.8501:0.0	.	618	P43121	MUC18_HUMAN	S	618	ENSP00000264036:P618S	ENSP00000264036:P618S	P	-	1	0	0	MCAM	118686328	118686328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	2.461000	0.83175	0.563000	0.77884	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2	1	0	1		2	2	2	0		0	0	119		119	117	1	2.060000	-3.076084	1	0.170000				109	108		602	594	1		1	0		0	0	119	0		1	1	0	0	0	174	0	109	602
MFRP	83552	broad.mit.edu	37	11	119212585	119212585	+	Silent	SNP	C	C	T	rs375425631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000530681.1	-	12	1641	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000449574.2_Silent_p.E499E|MFRP_ENST00000555262.1_Silent_p.E499E	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	499	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGCTGAGGACCTCTACCACCT	0.632																																						ENST00000530681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1495-1497)gaG>gaA		membrane frizzled-related protein		C	,	0,4398		0,0,2199	94.0	83.0	86.0		,1497	-3.6	0.1	11		86	4,8586	3.7+/-12.6	0,4,4291	no	utr-5,coding-synonymous	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	,	,499/580	119212585	4,12984	2199	4295	6494	SO:0001819	synonymous_variant	83552	20	121394	44				g.chr11:119212585C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1497G>A	chr11.hg19:g.119212585C>T		0					C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Silent_p.E499E|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.E499E	p.E499E	NM_001278431.1	NP_001265360.1	1	2	3	1.991067	Q9BY79	MFRP_HUMAN		12	1641	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	1	1	hg19	c.1497G>A	CCDS8421.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.781145	1	0.170000	NM_031433			63	62		240	236	1		1			0	0	66	0		1	0	0	0	0	0	0	63	240
MFRP	83552	broad.mit.edu	37	11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000530681.1	-	3	376	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	78					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627																																						ENST00000530681.1	1.000000	0.780000	1	9.900000e-01	0.990000	0.984476	0.990000	1.000000																										0				18						c.(232-234)Ctc>Ttc		membrane frizzled-related protein							27.0	25.0	25.0					11																	119216795		2189	4293	6482	SO:0001583	missense	83552	0	0					g.chr11:119216795G>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.232C>T	chr11.hg19:g.119216795G>A	ENSP00000456533:p.Leu78Phe	0					C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F	p.L78F	NM_001278431.1	NP_001265360.1	1	2	3	1.991067	Q9BY79	MFRP_HUMAN		3	376	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	0	1	hg19	c.232C>T	CCDS8421.1	1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261630	0.39995	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.72835	-0.69;-0.69;1.35	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.086607	0.46442	D	0.000283	T	0.56093	0.1962	L	0.36672	1.1	0.38950	D	0.95833	B;B	0.28971	0.229;0.049	B;B	0.27608	0.081;0.026	T	0.53718	-0.8399	10	0.17369	T	0.5	-21.5893	9.4859	0.38928	0.098:0.0:0.902:0.0	.	78;78	B4DHN8;Q9BY79	.;MFRP_HUMAN	F	78	ENSP00000450509:L78F;ENSP00000391664:L78F;ENSP00000353291:L78F	ENSP00000353291:L78F	L	-	1	0	0	MFRP	118722005	118722005	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	-0.117000	0.10708	2.357000	0.79964	0.655000	0.94253	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.646560	1	0.170000	NM_031433			12	12		89	85	1		1			0	0	14	0		9.991189e-01	0	0	0	0	0	0	12	89
USP2	9099	broad.mit.edu	37	11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	255					cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642																																						ENST00000260187.2	1.000000	0.700000	1	8.600000e-01	0.990000	0.951305	0.990000	1.000000																										0				24						c.(763-765)aGa>aTa		ubiquitin specific peptidase 2							30.0	35.0	33.0					11																	119243427		2199	4295	6494	SO:0001583	missense	9099	0	0					g.chr11:119243427C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.764G>T	chr11.hg19:g.119243427C>A	ENSP00000260187:p.Arg255Ile	0					RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.R255I	NM_004205.4	NP_004196.4	1	2	3	1.991067	O75604	UBP2_HUMAN		2	1058	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	1	1	hg19	c.764G>T	CCDS8422.1	1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417086	0.42918	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.21734	1.99	5.37	4.46	0.54185	5.37	4.46	0.54185	.	0.849233	0.10346	N	0.685653	T	0.28566	0.0707	M	0.73430	2.235	0.80722	D	1	B	0.26258	0.145	B	0.31686	0.134	T	0.06285	-1.0835	10	0.52906	T	0.07	-1.6389	7.9324	0.29909	0.0:0.7531:0.1604:0.0865	.	255	O75604	UBP2_HUMAN	I	255;225	ENSP00000260187:R255I	ENSP00000260187:R255I	R	-	2	0	0	USP2	118748637	118748637	0.995000	0.38212	1.000000	0.80357	0.923000	0.55619	1.263000	0.33004	1.259000	0.44117	-0.137000	0.14449	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_171997			26	26		269	264	0		1	0		0	0	51	0		9.999999e-01	8.541794e-03	0	0	0	2	0	26	269
USP2	9099	broad.mit.edu	37	11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	14	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592																																						ENST00000260187.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				24						c.(40-42)tCg>tTg		ubiquitin specific peptidase 2							45.0	31.0	36.0					11																	119244150		2196	4292	6488	SO:0001583	missense	9099	2	121336	30				g.chr11:119244150G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.41C>T	chr11.hg19:g.119244150G>A	ENSP00000260187:p.Ser14Leu	0					RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.S14L	NM_004205.4	NP_004196.4	1	2	3	1.991067	O75604	UBP2_HUMAN		2	335	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	1	1	hg19	c.41C>T	CCDS8422.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817379	0.70912	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.24350	1.86	5.37	4.45	0.53987	5.37	4.45	0.53987	.	0.165377	0.40064	N	0.001193	T	0.13457	0.0326	L	0.29908	0.895	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.05321	-1.0892	10	0.72032	D	0.01	-1.859	10.842	0.46722	0.0865:0.0:0.9135:0.0	.	14	O75604	UBP2_HUMAN	L	14	ENSP00000260187:S14L	ENSP00000260187:S14L	S	-	2	0	0	USP2	118749360	118749360	1.000000	0.71417	0.883000	0.34634	0.990000	0.78478	5.241000	0.65384	2.507000	0.84556	0.561000	0.74099	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_171997			37	37		214	210	1		1	0		0	0	39	0		1	0	0	0	0	1	0	37	214
PVRL1	5818	broad.mit.edu	37	11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	467					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)			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)		GTGAAGTAGGGCCGCTTGGCG	0.662																																						ENST00000264025.3	1.000000	0.330000	9.000000e-01	4.700000e-01	0.650000	0.676485	0.650000	1.000000																										0				27						c.(1399-1401)Ccc>Tcc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							51.0	44.0	46.0					11																	119535612		2199	4295	6494	SO:0001583	missense	5818	0	0					g.chr11:119535612G>A	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.1399C>T	chr11.hg19:g.119535612G>A	ENSP00000264025:p.Pro467Ser	0					PVRL1_ENST00000341398.2_Intron	p.P467S	NM_002855.4	NP_002846.3	1	2	3	1.991067	Q15223	PVRL1_HUMAN		6	1929	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	1	1	hg19	c.1399C>T	CCDS8426.1	0	.	.	.	.	.	.	.	.	.	.	-	11.38	1.621452	0.28889	.	.	ENSG00000110400	ENST00000264025	T	0.18657	2.2	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.51057	0.941	B	0.41036	0.346	T	0.09684	-1.0663	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:0.0:1.0:0.0	.	467	Q15223	PVRL1_HUMAN	S	467	ENSP00000264025:P467S	ENSP00000264025:P467S	P	-	1	0	0	PVRL1	119040822	119040822	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.350000	0.79385	2.108000	0.64289	0.479000	0.44913	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-13.319950	1	0.170000				10	10		177	175	0		1	0		0	0	32	0		9.969587e-01	1.155477e-01	0	1	0	9	0	10	177
PVRL1	5818	broad.mit.edu	37	11	119535964	119535964	+	Silent	SNP	G	G	A	rs372634692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	349					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)			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)		GCACCGGCCCGGCGCGCCGCC	0.677																																						ENST00000264025.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1045-1047)gcC>gcT		poliovirus receptor-related 1 (herpesvirus entry mediator C)		G	,	0,4394		0,0,2197	24.0	28.0	26.0		1047,	-8.6	0.5	11		26	1,8583		0,1,4291	no	coding-synonymous,intron	PVRL1	NM_002855.4,NM_203285.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	349/518,	119535964	1,12977	2197	4292	6489	SO:0001819	synonymous_variant	5818	3	120330	34				g.chr11:119535964G>A	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.1047C>T	chr11.hg19:g.119535964G>A		0					PVRL1_ENST00000341398.2_Intron	p.A349A	NM_002855.4	NP_002846.3	1	2	3	1.991067	Q15223	PVRL1_HUMAN		6	1577	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	1	1	hg19	c.1047C>T	CCDS8426.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	0		2	2	2	0		0	0	31		31	28	1	2.060000	-20.000000	1	0.170000				55	51		224	209	1		1	0		0	0	31	0		1	7.933032e-01	0	0	0	14	0	55	224
DKK3	27122	broad.mit.edu	37	11	11986231	11986231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11986231T>G	ENST00000396505.2	-	8	1071	c.833A>C	c.(832-834)cAc>cCc	p.H278P	DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	278	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CACCAGGCTGTGGCTGGGGAG	0.617																																						ENST00000396505.2	1.000000	0.210000	7.100000e-01	3.300000e-01	0.490000	0.523645	0.490000	0.450000																										0				8						c.(832-834)cAc>cCc		dickkopf WNT signaling pathway inhibitor 3							35.0	38.0	37.0					11																	11986231		2201	4294	6495	SO:0001583	missense	27122	0	0					g.chr11:11986231T>G	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.833A>C	chr11.hg19:g.11986231T>G	ENSP00000379762:p.His278Pro	0					DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P	p.H278P	NM_015881.5	NP_056965.3	1	2	3	1.993097	Q9UBP4	DKK3_HUMAN		8	1071	-			A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	0	1	hg19	c.833A>C	CCDS7808.1	0	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102267	0.76983	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914	T;T;T;T	0.33865	2.1;2.1;2.12;1.39	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.105186	0.64402	D	0.000003	T	0.44705	0.1306	L	0.55481	1.735	0.48288	D	0.999628	D;P;P	0.53151	0.958;0.93;0.93	P;B;B	0.51229	0.663;0.36;0.36	T	0.40979	-0.9534	10	0.54805	T	0.06	-15.4297	13.0648	0.59028	0.0:0.0:0.0:1.0	.	292;250;278	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	P	278;278;221;292;250;122	ENSP00000379762:H278P;ENSP00000314910:H278P;ENSP00000433112:H292P;ENSP00000398365:H250P	ENSP00000314730:H122P	H	-	2	0	0	DKK3	11942807	11942807	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.468000	0.60162	2.107000	0.64212	0.533000	0.62120	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-10.215000	1	0.170000	NM_013253			7	7		173	172	0		1	0		0	0	30	0		9.808687e-01	9.999808e-01	0	1	0	707	0	7	173
PVRL1	5818	broad.mit.edu	37	11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A	rs201959047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					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)			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)		CCGGCGCGCCGCCCATGTTCG	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14227	0.0		0.0	False		,,,				2504	0.0					ENST00000264025.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1039-1041)Cgg>Tgg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							21.0	25.0	24.0					11																	119535972		2199	4288	6487	SO:0001583	missense	5818	3	120334	30				g.chr11:119535972G>A	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.1039C>T	chr11.hg19:g.119535972G>A	ENSP00000264025:p.Arg347Trp	0					PVRL1_ENST00000341398.2_Intron	p.R347W	NM_002855.4	NP_002846.3	1	2	3	1.991067	Q15223	PVRL1_HUMAN		6	1569	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	1	1	hg19	c.1039C>T	CCDS8426.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.99	2.700809	0.48307	.	.	ENSG00000110400	ENST00000264025	T	0.76186	-1.0	4.32	3.32	0.38043	4.32	3.32	0.38043	.	0.288701	0.29822	N	0.011103	T	0.57330	0.2046	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60177	-0.7314	10	0.66056	D	0.02	.	2.4483	0.04511	0.1109:0.1906:0.5019:0.1966	.	347	Q15223	PVRL1_HUMAN	W	347	ENSP00000264025:R347W	ENSP00000264025:R347W	R	-	1	2	2	PVRL1	119041182	119041182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.455000	0.44988	2.108000	0.64289	0.479000	0.44913	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				48	45		204	192	1		1	0		0	0	25	0		1	5.365509e-01	0	0	0	9	0	48	204
TRIM29	23650	broad.mit.edu	37	11	120008617	120008617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120008617C>T	ENST00000341846.5	-	1	544	c.123G>A	c.(121-123)aaG>aaA	p.K41K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	41					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)			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)		CGTTGGTGGTCTTGGCATCCT	0.687																																						ENST00000341846.5	1.000000	0.160000	3.900000e-01	2.200000e-01	0.290000	0.329503	0.290000	0.290000																										0				30						c.(121-123)aaG>aaA		tripartite motif containing 29							54.0	54.0	54.0					11																	120008617		2203	4299	6502	SO:0001819	synonymous_variant	23650	9	121398	42				g.chr11:120008617C>T	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.123G>A	chr11.hg19:g.120008617C>T		0						p.K41K	NM_012101.3	NP_036233.2	1	2	3	1.991067	Q14134	TRI29_HUMAN		1	544	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	1	1	hg19	c.123G>A	CCDS8428.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	0	0	1		2	2	2	0		0	0	101		101	77	1	2.060000	-12.193900	1	0.170000	NM_012101			15	15		602	549	0		1	0		0	0	101	0		9.997519e-01	8.003956e-02	0	1	0	17	0	15	602
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647																																						ENST00000328965.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(514-516)cGc>cAc		OAF homolog (Drosophila)							43.0	38.0	39.0					11																	120097673		2203	4300	6503	SO:0001583	missense	220323	8	121408	37				g.chr11:120097673G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.515G>A	chr11.hg19:g.120097673G>A	ENSP00000332613:p.Arg172His	0					OAF_ENST00000531220.1_Missense_Mutation_p.R56H	p.R172H	NM_178507.2	NP_848602.1	1	2	3	1.991067	Q86UD1	OAF_HUMAN		3	1028	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		Missense_Mutation	SNP	ENST00000328965.4	1	1	hg19	c.515G>A	CCDS8430.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	0	OAF	119602883	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_178507			43	42		192	187	1		1	1		0	0	42	0		1	1	0	59	0	312	0	43	192
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					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)			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)		GAGTACCCAAATGTTGAAGAG	0.408			T	MLL	AML																																	ENST00000397843.2	1.000000	0.750000	1	8.400000e-01	0.950000	0.935102	0.950000	1.000000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)				L	L	MLL		AML		0				61						c.(3016-3018)aAt>aCt		Rho guanine nucleotide exchange factor (GEF) 12							172.0	164.0	166.0					11																	120343820		1885	4117	6002	SO:0001583	missense	23365	0	0					g.chr11:120343820A>C	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.3017A>C	chr11.hg19:g.120343820A>C	ENSP00000380942:p.Asn1006Thr	0					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T	p.N1006T	NM_015313.2	NP_056128.1	1	2	3	1.991067	Q9NZN5	ARHGC_HUMAN		31	3183	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	1	1	hg19	c.3017A>C	CCDS41727.1	1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852865	0.17106	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.27559	0.0677	N	0.22421	0.69	0.32375	N	0.555307	B;B;B	0.20368	0.001;0.044;0.026	B;B;B	0.21546	0.004;0.035;0.016	T	0.31971	-0.9924	10	0.19590	T	0.45	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1006;987;903	ENSP00000380942:N1006T;ENSP00000349056:N987T;ENSP00000432984:N903T	ENSP00000349056:N987T	N	+	2	0	0	ARHGEF12	119849030	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1		2	2	2	0		0	0	185		185	182	1	2.060000	-20.000000	1	0.170000	NM_015313			69	68		786	770	1		1	1		0	0	185	0		1	9.999993e-01	0	37	0	187	0	69	786
ARHGEF12	23365	broad.mit.edu	37	11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		ATGGCGCTCAGATTTATGAAC	0.383			T	MLL	AML																																	ENST00000397843.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)				L	L	MLL		AML		0				61						c.(3322-3324)caG>caT		Rho guanine nucleotide exchange factor (GEF) 12							123.0	117.0	119.0					11																	120347416		1863	4114	5977	SO:0001583	missense	23365	0	0					g.chr11:120347416G>T	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.3324G>T	chr11.hg19:g.120347416G>T	ENSP00000380942:p.Gln1108His	0					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H	p.Q1108H	NM_015313.2	NP_056128.1	1	2	3	1.991067	Q9NZN5	ARHGC_HUMAN		34	3490	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	1	1	hg19	c.3324G>T	CCDS41727.1	1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279255	0.40294	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.46063	0.88;0.88;0.88	5.1	-1.08	0.09936	5.1	-1.08	0.09936	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38217	U	0.001761	T	0.29817	0.0745	L	0.55017	1.72	0.58432	D	0.999998	B;B;B	0.30973	0.302;0.094;0.057	B;B;B	0.28385	0.089;0.044;0.02	T	0.03641	-1.1017	10	0.52906	T	0.07	-12.5972	4.5858	0.12282	0.2541:0.1396:0.4849:0.1215	.	1005;1089;1108	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1108;1089;1005	ENSP00000380942:Q1108H;ENSP00000349056:Q1089H;ENSP00000432984:Q1005H	ENSP00000349056:Q1089H	Q	+	3	2	2	ARHGEF12	119852626	119852626	0.900000	0.30661	0.997000	0.53966	0.971000	0.66376	-0.026000	0.12392	-0.153000	0.11137	-0.471000	0.05019	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_015313			63	62		286	282	1		1	1		0	0	79	0		1	1	0	57	0	193	0	63	286
ARHGEF12	23365	broad.mit.edu	37	11	120348237	120348237	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		AGAGTCCAGGTACACTCTTCT	0.423			T	MLL	AML																																	ENST00000397843.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.991731	0.990000	1.000000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)				L	L	MLL		AML		0				61						c.e36+2		Rho guanine nucleotide exchange factor (GEF) 12							89.0	89.0	89.0					11																	120348237		1900	4125	6025	SO:0001630	splice_region_variant	23365	0	0					g.chr11:120348237T>C	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.3532+2T>C	chr11.hg19:g.120348237T>C		0					ARHGEF12_ENST00000532993.1_Splice_Site|ARHGEF12_ENST00000356641.3_Splice_Site		NM_015313.2	NP_056128.1	1	2	3	1.991067	Q9NZN5	ARHGC_HUMAN		36	3698	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	O15086|Q6P526	Splice_Site	SNP	ENST00000397843.2	1	1	hg19		CCDS41727.1	1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175037	0.38413	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	4.85	4.85	0.62838	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2739	0.60177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ARHGEF12	119853447	119853447	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	4.499000	0.60380	1.936000	0.56123	0.477000	0.44152	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-10.773660	1	0.170000	NM_015313	Intron		23	21		184	174	0		1	1		0	0	52	0		9.999991e-01	6.682849e-01	0	12	0	8	0	23	184
ARHGEF12	23365	broad.mit.edu	37	11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1539					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)			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)		CTCACAGACAAGCACTCAGGT	0.388			T	MLL	AML																																	ENST00000397843.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.993287	0.990000	1.000000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)				L	L	MLL		AML		0				61						c.(4615-4617)aAg>aCg		Rho guanine nucleotide exchange factor (GEF) 12							80.0	74.0	76.0					11																	120355208		1879	4112	5991	SO:0001583	missense	23365	0	0					g.chr11:120355208A>C	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.4616A>C	chr11.hg19:g.120355208A>C	ENSP00000380942:p.Lys1539Thr	0					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T	p.K1539T	NM_015313.2	NP_056128.1	1	2	3	1.991067	Q9NZN5	ARHGC_HUMAN		40	4782	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	1	1	hg19	c.4616A>C	CCDS41727.1	1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147910	0.57151	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	5.69	4.57	0.56435	5.69	4.57	0.56435	.	0.142736	0.32328	N	0.006246	T	0.46795	0.1411	N	0.19112	0.55	0.27222	N	0.959639	P	0.35433	0.501	B	0.29785	0.107	T	0.35847	-0.9772	10	0.33940	T	0.23	-11.4479	10.0608	0.42273	0.9244:0.0:0.0756:0.0	.	1539	Q9NZN5	ARHGC_HUMAN	T	1539;1520;1436	ENSP00000380942:K1539T;ENSP00000349056:K1520T;ENSP00000432984:K1436T	ENSP00000349056:K1520T	K	+	2	0	0	ARHGEF12	119860418	119860418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.355000	0.59424	0.993000	0.38866	0.533000	0.62120	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_015313			37	36		317	307	0		1	1		0	0	65	0		1	9.999999e-01	0	16	0	208	0	37	317
GRIK4	2900	broad.mit.edu	37	11	120769288	120769288	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					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)			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)		ACAGCCACCTCTATGCCTCCA	0.602																																						ENST00000527524.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1210-1212)ctC>ctA		glutamate receptor, ionotropic, kainate 4							214.0	141.0	166.0					11																	120769288		2203	4299	6502	SO:0001819	synonymous_variant	2900	0	0					g.chr11:120769288C>A	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.1212C>A	chr11.hg19:g.120769288C>A		0					GRIK4_ENST00000438375.2_Silent_p.L404L	p.L404L	NM_001282470.1	NP_001269399.1	1	2	3	1.991067	Q16099	GRIK4_HUMAN		12	1499	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	A8K9L1	Silent	SNP	ENST00000527524.2	1	1	hg19	c.1212C>A	CCDS8433.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.438187	1	0.170000	NM_014619			41	41		174	171	1		1	0		0	0	38	0		1	0	0	0	0	1	0	41	174
TBCEL	219899	broad.mit.edu	37	11	120930756	120930756	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120930756T>C	ENST00000529397.1	+	7	1018	c.918T>C	c.(916-918)cgT>cgC	p.R306R	TBCEL_ENST00000422003.2_Silent_p.R306R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			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)		TTTTTATTCGTTACTATGTGG	0.383																																						ENST00000529397.1	1.000000	0.220000	6.300000e-01	3.200000e-01	0.450000	0.485580	0.450000	0.420000																									TECTA/TBCEL(2)	0				14						c.(916-918)cgT>cgC		tubulin folding cofactor E-like							100.0	92.0	95.0					11																	120930756		2202	4299	6501	SO:0001819	synonymous_variant	219899	0	0					g.chr11:120930756T>C	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.918T>C	chr11.hg19:g.120930756T>C		0					TBCEL_ENST00000422003.2_Silent_p.R306R	p.R306R	NM_001130047.1	NP_001123519.1	1	2	3	1.991067	Q5QJ74	TBCEL_HUMAN		7	1018	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	Q0VAN6	Silent	SNP	ENST00000529397.1	0	1	hg19	c.918T>C	CCDS31692.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-10.847410	1	0.170000	NM_152715			9	8		238	231	0		1	0		0	0	36	0		9.935627e-01	4.671995e-01	0	0	0	40	0	9	238
TECTA	7007	broad.mit.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				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)			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)		ACAATTCCTTCGGCGAGGGGA	0.493																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(802-804)Cgg>Tgg		tectorin alpha							67.0	63.0	64.0					11																	120989026		2203	4299	6502	SO:0001583	missense	7007	0	0					g.chr11:120989026C>T	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.802C>T	chr11.hg19:g.120989026C>T	ENSP00000376543:p.Arg268Trp	0					TECTA_ENST00000264037.2_Missense_Mutation_p.R268W	p.R268W			1	2	3	1.991067	O75443	TECTA_HUMAN		7	1073	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000392793.1	1	1	hg19	c.802C>T	CCDS8434.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	2	TECTA	120494236	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_005422			41	40		183	180	1		1	0		0	0	40	0		1	0	0	0	0	1	0	41	183
TECTA	7007	broad.mit.edu	37	11	120989208	120989208	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha	328	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			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)		TTGGGGAGCCACACTACCACA	0.557																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(982-984)ccA>ccG		tectorin alpha							145.0	127.0	133.0					11																	120989208		2203	4299	6502	SO:0001819	synonymous_variant	7007	0	0					g.chr11:120989208A>G	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.984A>G	chr11.hg19:g.120989208A>G		0					TECTA_ENST00000264037.2_Silent_p.P328P	p.P328P			1	2	3	1.991067	O75443	TECTA_HUMAN		7	1255	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Silent	SNP	ENST00000392793.1	1	1	hg19	c.984A>G	CCDS8434.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000	NM_005422			78	76		439	431	1		1	0		0	0	81	0		1	2.341782e-02	0	0	0	2	0	78	439
TECTA	7007	broad.mit.edu	37	11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha	715	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)			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)		CGTGTGCCTGCTCAGCCAGAA	0.652																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(2143-2145)Ctc>Ttc		tectorin alpha							84.0	71.0	76.0					11																	120998829		2203	4299	6502	SO:0001583	missense	7007	1	121412	30				g.chr11:120998829C>T	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.2143C>T	chr11.hg19:g.120998829C>T	ENSP00000376543:p.Leu715Phe	0					TECTA_ENST00000264037.2_Missense_Mutation_p.L715F	p.L715F			1	2	3	1.991067	O75443	TECTA_HUMAN		9	2414	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000392793.1	1	1	hg19	c.2143C>T	CCDS8434.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031115	0.35797	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60920	0.15;0.15	5.67	2.47	0.30058	5.67	2.47	0.30058	von Willebrand factor, type D domain (3);	0.410318	0.26016	N	0.026850	T	0.55657	0.1934	L	0.44542	1.39	0.28346	N	0.921119	P	0.36535	0.557	P	0.44732	0.459	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.1335	0.53957	0.1003:0.4443:0.4554:0.0	.	715	O75443	TECTA_HUMAN	F	715	ENSP00000376543:L715F;ENSP00000264037:L715F	ENSP00000264037:L715F	L	+	1	0	0	TECTA	120504039	120504039	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.883000	0.39658	0.717000	0.32145	-0.175000	0.13238	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_005422			78	76		361	359	1		1	0		0	0	86	0		1	0	0	0	0	1	0	78	361
TECTA	7007	broad.mit.edu	37	11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha	791	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)			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)		TTTTCAGTTGAATGGTCAGGA	0.448																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(2371-2373)Aat>Gat		tectorin alpha							149.0	148.0	148.0					11																	121000350		2203	4299	6502	SO:0001583	missense	7007	0	0					g.chr11:121000350A>G	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.2371A>G	chr11.hg19:g.121000350A>G	ENSP00000376543:p.Asn791Asp	0					TECTA_ENST00000264037.2_Missense_Mutation_p.N791D	p.N791D			1	2	3	1.991067	O75443	TECTA_HUMAN		10	2642	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000392793.1	1	1	hg19	c.2371A>G	CCDS8434.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230020	0.79688	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64803	-0.12;-0.12	4.99	4.99	0.66335	4.99	4.99	0.66335	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	L	0.60455	1.87	0.46376	D	0.999019	D	0.76494	0.999	D	0.83275	0.996	T	0.69687	-0.5078	10	0.17832	T	0.49	.	14.6911	0.69087	1.0:0.0:0.0:0.0	.	791	O75443	TECTA_HUMAN	D	791	ENSP00000376543:N791D;ENSP00000264037:N791D	ENSP00000264037:N791D	N	+	1	0	0	TECTA	120505560	120505560	1.000000	0.71417	0.772000	0.31596	0.810000	0.45777	8.522000	0.90573	1.886000	0.54624	0.460000	0.39030	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_005422			81	81		341	335	1		1			0	0	88	0		1	0	0	0	0	0	0	81	341
TECTA	7007	broad.mit.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					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)			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)		GAGGAGTGTGCGCTGCGCAAC	0.667																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(4411-4413)gCg>gTg		tectorin alpha							42.0	40.0	41.0					11																	121028656		2203	4298	6501	SO:0001583	missense	7007	0	0					g.chr11:121028656C>T	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.4412C>T	chr11.hg19:g.121028656C>T	ENSP00000376543:p.Ala1471Val	0					TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V	p.A1471V			1	2	3	1.991067	O75443	TECTA_HUMAN		14	4683	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000392793.1	1	1	hg19	c.4412C>T	CCDS8434.1	1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	0	TECTA	120533866	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-3.156705	1	0.170000	NM_005422			66	65		339	334	1		1			0	0	80	0		1	0	0	0	0	0	0	66	339
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.		C -> S (in DFNA12; dbSNP:rs28939691). {ECO:0000269|PubMed:10196713}.		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)			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)		ACAAAGTGTGCGGTCTCTGTG	0.507																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(4855-4857)tgC>tgT		tectorin alpha							135.0	129.0	131.0					11																	121031011		2203	4299	6502	SO:0001819	synonymous_variant	7007	2	121412	36				g.chr11:121031011C>T	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.4857C>T	chr11.hg19:g.121031011C>T		0					TECTA_ENST00000264037.2_Silent_p.C1619C	p.C1619C			1	2	3	1.991067	O75443	TECTA_HUMAN		15	5128	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Silent	SNP	ENST00000392793.1	1	1	hg19	c.4857C>T	CCDS8434.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-3.181229	1	0.170000	NM_005422			150	147		629	618	1		1	0		0	0	132	0		1	0	0	0	0	1	0	150	629
TECTA	7007	broad.mit.edu	37	11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha	2120					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)			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)		ACGGCAAGAGCTGCAGAGGTA	0.572																																						ENST00000392793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									TECTA/TBCEL(2)	0				135						c.(6358-6360)agC>agA		tectorin alpha							87.0	79.0	82.0					11																	121060582		2203	4299	6502	SO:0001583	missense	7007	0	0					g.chr11:121060582C>A	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.6360C>A	chr11.hg19:g.121060582C>A	ENSP00000376543:p.Ser2120Arg	0					TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R	p.S2120R			1	2	3	1.991067	O75443	TECTA_HUMAN		23	6631	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000392793.1	1	1	hg19	c.6360C>A	CCDS8434.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902110	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95756	-3.8;-3.8	5.71	3.52	0.40303	5.71	3.52	0.40303	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.60957	1.885	0.44337	D	0.997229	D	0.71674	0.998	D	0.78314	0.991	D	0.96201	0.9145	10	0.87932	D	0	.	10.5441	0.45050	0.0:0.7674:0.0:0.2326	.	2120	O75443	TECTA_HUMAN	R	2120	ENSP00000376543:S2120R;ENSP00000264037:S2120R	ENSP00000264037:S2120R	S	+	3	2	2	TECTA	120565792	120565792	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.062000	0.49971	1.423000	0.47198	0.561000	0.74099	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_005422			52	52		236	233	1		1	0		0	0	59	0		1	0	0	0	0	1	0	52	236
SORL1	6653	broad.mit.edu	37	11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	343					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522																																						ENST00000260197.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(1027-1029)aGa>aTa		sortilin-related receptor, L(DLR class) A repeats containing							111.0	105.0	107.0					11																	121383800		2203	4299	6502	SO:0001583	missense	6653	0	0					g.chr11:121383800G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1028G>T	chr11.hg19:g.121383800G>T	ENSP00000260197:p.Arg343Ile	0					SORL1_ENST00000532451.1_3'UTR	p.R343I	NM_003105.5	NP_003096	1	2	3	1.991067	Q92673	SORL_HUMAN		7	1157	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	1	1	hg19	c.1028G>T	CCDS8436.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456427	0.63401	.	.	ENSG00000137642	ENST00000260197	T	0.27557	1.66	5.19	4.27	0.50696	5.19	4.27	0.50696	VPS10 (1);	0.248756	0.37715	N	0.001971	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.36183	0.542	B	0.41412	0.356	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.0411	0.30521	0.2403:0.0:0.7597:0.0	.	343	Q92673	SORL_HUMAN	I	343	ENSP00000260197:R343I	ENSP00000260197:R343I	R	+	2	0	0	SORL1	120889010	120889010	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.191000	0.50981	1.174000	0.42811	0.655000	0.94253	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_003105			76	76		336	327	1		1	1		0	0	87	0		1	9.983748e-01	0	9	0	35	0	76	336
SORL1	6653	broad.mit.edu	37	11	121440888	121440888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1082	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483																																						ENST00000260197.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(3244-3246)caG>caA		sortilin-related receptor, L(DLR class) A repeats containing							247.0	197.0	214.0					11																	121440888		2203	4299	6502	SO:0001819	synonymous_variant	6653	0	0					g.chr11:121440888G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3246G>A	chr11.hg19:g.121440888G>A		0					SORL1_ENST00000525532.1_Silent_p.Q26Q	p.Q1082Q	NM_003105.5	NP_003096	1	2	3	1.991067	Q92673	SORL_HUMAN		23	3375	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	1	1	hg19	c.3246G>A	CCDS8436.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_003105			75	74		361	350	1		1	1		0	0	102	0		1	9.999046e-01	0	10	0	57	0	75	361
MICAL2	9645	broad.mit.edu	37	11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	551	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGTTGGCCCTGTGTGCCAT	0.647																																						ENST00000256194.4	1.000000	0.300000	7.000000e-01	4.000000e-01	0.530000	0.559452	0.530000	0.510000																										0				47						c.(1651-1653)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 2							101.0	84.0	90.0					11																	12246330		2201	4294	6495	SO:0001583	missense	9645	0	0					g.chr11:12246330C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1651C>A	chr11.hg19:g.12246330C>A	ENSP00000256194:p.Leu551Met	0					MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M	p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	1	2	3	1.993097	O94851	MICA2_HUMAN		13	1939	+			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	1	1	hg19	c.1651C>A	CCDS7809.1	0	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749488	0.69533	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.01	4.02	0.46733	5.01	4.02	0.46733	Calponin homology domain (5);	0.000000	0.64402	D	0.000005	D	0.98485	0.9495	M	0.89353	3.025	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	7.4697	0.27342	0.0:0.7662:0.0:0.2338	.	551;551;551;551;551	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	M	551;84;551;551;551;551	ENSP00000441689:L551M;ENSP00000256194:L551M;ENSP00000433965:L551M;ENSP00000344894:L551M;ENSP00000368932:L551M	ENSP00000256194:L551M	L	+	1	2	2	MICAL2	12202906	12202906	0.581000	0.26741	1.000000	0.80357	0.975000	0.68041	1.248000	0.32827	2.606000	0.88127	0.655000	0.94253	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-2.994713	1	0.170000	NM_014632			14	14		306	303	0		1	1		0	0	57	0		9.997550e-01	9.949951e-01	0	8	0	185	0	14	306
MICAL2	9645	broad.mit.edu	37	11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000379612.3_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	872					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517																																						ENST00000256194.4	1.000000	0.740000	1	8.700000e-01	0.990000	0.956222	0.990000	1.000000																										0				47						c.(2614-2616)gCg>gTg		microtubule associated monooxygenase, calponin and LIM domain containing 2		C	VAL/ALA	0,4402		0,0,2201	117.0	117.0	117.0		2615	6.1	1.0	11	dbSNP_134	117	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign	872/1125	12264276	1,12989	2201	4294	6495	SO:0001583	missense	9645	4	121412	38				g.chr11:12264276C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2615C>T	chr11.hg19:g.12264276C>T	ENSP00000256194:p.Ala872Val	0					MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000379612.3_Intron	p.A872V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	1	2	3	1.993097	O94851	MICA2_HUMAN		20	2903	+			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	1	1	hg19	c.2615C>T	CCDS7809.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.165018	0.94727	0.0	1.16E-4	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.68903	-0.33;-0.36	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.75664	0.3880	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.75147	-0.3420	10	0.52906	T	0.07	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	872;872	G3XAC8;O94851	.;MICA2_HUMAN	V	872	ENSP00000256194:A872V;ENSP00000344894:A872V	ENSP00000256194:A872V	A	+	2	0	0	MICAL2	12220852	12220852	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.311000	0.65786	2.884000	0.98904	0.655000	0.94253	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.017764	1	0.170000	NM_014632			40	40		422	417	0		1			0	0	69	0		1	0	0	0	0	0	0	40	422
SORL1	6653	broad.mit.edu	37	11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000260197.7	+	29	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1318					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517																																						ENST00000260197.7	1.000000	0.760000	1	8.400000e-01	0.930000	0.927570	0.930000	1.000000																										0				91						c.(3952-3954)Gat>Tat		sortilin-related receptor, L(DLR class) A repeats containing							457.0	381.0	407.0					11																	121459973		2203	4299	6502	SO:0001583	missense	6653	0	0					g.chr11:121459973G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3952G>T	chr11.hg19:g.121459973G>T	ENSP00000260197:p.Asp1318Tyr	0					SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y	p.D1318Y	NM_003105.5	NP_003096	1	2	3	1.991067	Q92673	SORL_HUMAN		29	4081	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	1	1	hg19	c.3952G>T	CCDS8436.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038523	0.35989	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.91631	-2.88;-2.63;-2.27;-2.29	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.395539	0.28448	N	0.015315	D	0.91147	0.7212	N	0.20574	0.59	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	D	0.92346	0.5885	10	0.66056	D	0.02	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1318	Q92673	SORL_HUMAN	Y	1318;262;164;228	ENSP00000260197:D1318Y;ENSP00000434634:D262Y;ENSP00000432131:D164Y;ENSP00000436447:D228Y	ENSP00000260197:D1318Y	D	+	1	0	0	SORL1	120965183	120965183	1.000000	0.71417	0.984000	0.44739	0.637000	0.38172	4.922000	0.63404	2.634000	0.89283	0.655000	0.94253	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1		2	2	2	0		0	0	279		279	275	1	2.060000	-18.858750	1	0.170000	NM_003105			92	92		1070	1047	0		1	1		0	0	279	0		1	9.980991e-01	0	6	0	101	0	92	1070
UBASH3B	84959	broad.mit.edu	37	11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCGTCCCTTCGCTGCGTTCAG	0.423																																						ENST00000284273.5	1.000000	0.260000	6.700000e-01	3.600000e-01	0.490000	0.525763	0.490000	0.470000																										0				26						c.(1417-1419)cGc>cAc		ubiquitin associated and SH3 domain containing B							135.0	121.0	125.0					11																	122669710		2202	4299	6501	SO:0001583	missense	84959	0	0					g.chr11:122669710G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1418G>A	chr11.hg19:g.122669710G>A	ENSP00000284273:p.Arg473His	0						p.R473H	NM_032873.4	NP_116262.2	1	2	3	1.991067	Q8TF42	UBS3B_HUMAN		10	1793	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	1	1	hg19	c.1418G>A	CCDS31694.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.627954	0.96671	.	.	ENSG00000154127	ENST00000284273	T	0.77098	-1.07	6.17	6.17	0.99709	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:0.0:1.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	H	473	ENSP00000284273:R473H	ENSP00000284273:R473H	R	+	2	0	0	UBASH3B	122174920	122174920	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.862249	1	0.170000	NM_032873			12	12		284	281	0		1	0		0	0	40	0		9.991133e-01	7.710731e-01	0	1	0	67	0	12	284
UBASH3B	84959	broad.mit.edu	37	11	122671895	122671895	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B						negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTACCCCTAAGGTTTACAACA	0.418																																						ENST00000284273.5	1.000000	0.210000	4.700000e-01	2.700000e-01	0.360000	0.391984	0.360000	0.350000																										0				26						c.e11-1		ubiquitin associated and SH3 domain containing B							93.0	93.0	93.0					11																	122671895		2202	4299	6501	SO:0001630	splice_region_variant	84959	0	0					g.chr11:122671895G>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1451-1G>T	chr11.hg19:g.122671895G>T		0							NM_032873.4	NP_116262.2	1	2	3	1.991067	Q8TF42	UBS3B_HUMAN		11	1825	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Splice_Site	SNP	ENST00000284273.5	1	1	hg19		CCDS31694.1	0	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120793	0.77436	.	.	ENSG00000154127	ENST00000284273	.	.	.	5.47	4.55	0.56014	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7391	0.62836	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	UBASH3B	122177105	122177105	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.447000	0.97595	1.289000	0.44618	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	0	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.962210	1	0.170000	NM_032873	Intron		16	17		523	514	0		1			0	0	104	0		9.999259e-01	0	0	0	0	0	0	16	523
UBASH3B	84959	broad.mit.edu	37	11	122677157	122677157	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	545	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299																																						ENST00000284273.5	1.000000	0.490000	1	6.700000e-01	0.890000	0.855520	0.890000	1.000000																										0				26						c.(1633-1635)tcC>tcA		ubiquitin associated and SH3 domain containing B							81.0	82.0	82.0					11																	122677157		2200	4294	6494	SO:0001819	synonymous_variant	84959	0	0					g.chr11:122677157C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1635C>A	chr11.hg19:g.122677157C>A		0						p.S545S	NM_032873.4	NP_116262.2	1	2	3	1.991067	Q8TF42	UBS3B_HUMAN		12	2010	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	1	1	hg19	c.1635C>A	CCDS31694.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.744686	1	0.170000	NM_032873			12	11		150	147	0		1	1		0	0	77	0		9.991043e-01	8.639200e-01	0	5	0	42	0	12	150
C11orf63	79864	broad.mit.edu	37	11	122774741	122774741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000531316.1	+	2	545	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000227349.2_Silent_p.T151T|C11orf63_ENST00000307257.6_Silent_p.T151T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	151					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					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)		CGGAGTCCACGGACAGCTCTT	0.532																																						ENST00000531316.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(451-453)acG>acA		chromosome 11 open reading frame 63							84.0	94.0	91.0					11																	122774741		2202	4299	6501	SO:0001819	synonymous_variant	79864	0	0					g.chr11:122774741G>A	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.453G>A	chr11.hg19:g.122774741G>A		0					C11orf63_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000227349.2_Silent_p.T151T	p.T151T			1	2	3	1.991067	Q6NUN7	CK063_HUMAN		2	545	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	1	1	hg19	c.453G>A	CCDS8438.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-2.947470	1	0.170000	NM_024806			151	150		624	617	1		1	0		0	0	149	0		1	8.464510e-01	0	0	0	16	0	151	624
BSX	390259	broad.mit.edu	37	11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	178					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)			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)		CCGTCTGGTGCTTTGGGTTCG	0.602																																						ENST00000343035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(532-534)Gca>Tca		brain-specific homeobox							58.0	60.0	59.0					11																	122848527		1889	4117	6006	SO:0001583	missense	390259	0	0					g.chr11:122848527C>A		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.532G>T	chr11.hg19:g.122848527C>A	ENSP00000344285:p.Ala178Ser	0						p.A178S	NM_001098169.1	NP_001091639.1	1	2	3	1.991067	Q3C1V8	BSH_HUMAN		3	580	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000343035.2	1	1	hg19	c.532G>T	CCDS41728.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385453	0.25031	.	.	ENSG00000188909	ENST00000343035	D	0.92805	-3.11	5.4	5.4	0.78164	5.4	5.4	0.78164	Homeodomain-like (1);	0.297348	0.35739	N	0.003004	T	0.81588	0.4854	N	0.14661	0.345	0.26143	N	0.980247	B	0.09022	0.002	B	0.09377	0.004	T	0.63585	-0.6604	10	0.07482	T	0.82	.	9.9018	0.41353	0.0:0.8441:0.0:0.1559	.	178	Q3C1V8	BSH_HUMAN	S	178	ENSP00000344285:A178S	ENSP00000344285:A178S	A	-	1	0	0	BSX	122353737	122353737	0.693000	0.27728	0.989000	0.46669	0.367000	0.29736	1.139000	0.31504	2.516000	0.84829	0.561000	0.74099	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_001098169			62	62		212	211	1		1			0	0	39	0		1	0	0	0	0	0	0	62	212
BSX	390259	broad.mit.edu	37	11	122848534	122848534	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175					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)			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)		GTGCTTTGGGTTCGTCTTGGC	0.592																																						ENST00000343035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(523-525)gaA>gaG		brain-specific homeobox							62.0	64.0	63.0					11																	122848534		1894	4126	6020	SO:0001819	synonymous_variant	390259	0	0					g.chr11:122848534T>C		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.525A>G	chr11.hg19:g.122848534T>C		0						p.E175E	NM_001098169.1	NP_001091639.1	1	2	3	1.991067	Q3C1V8	BSH_HUMAN		3	573	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		Silent	SNP	ENST00000343035.2	1	1	hg19	c.525A>G	CCDS41728.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001098169			65	65		223	220	0		1			0	0	37	0		1	0	0	0	0	0	0	65	223
MICALCL	84953	broad.mit.edu	37	11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	488					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			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)		ACAGGTAACAGAGGCTTCCTC	0.458																																						ENST00000256186.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1462-1464)Gag>Aag		MICAL C-terminal like							114.0	115.0	115.0					11																	12341278		1926	4130	6056	SO:0001583	missense	84953	0	0					g.chr11:12341278G>A	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.1462G>A	chr11.hg19:g.12341278G>A	ENSP00000256186:p.Glu488Lys	0						p.E488K	NM_032867.2	NP_116256.2	1	2	3	1.993097	Q6ZW33	MICLK_HUMAN		4	1753	+			Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	1	1	hg19	c.1462G>A	CCDS41620.1	1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659779	0.29515	.	.	ENSG00000133808	ENST00000256186	T	0.09911	2.93	5.55	4.58	0.56647	5.55	4.58	0.56647	.	0.348813	0.20333	N	0.094386	T	0.07863	0.0197	L	0.38175	1.15	0.21740	N	0.999568	P	0.43094	0.799	B	0.33339	0.162	T	0.34675	-0.9819	10	0.22109	T	0.4	.	13.2894	0.60262	0.0:0.1588:0.8412:0.0	.	488	Q6ZW33	MICLK_HUMAN	K	488	ENSP00000256186:E488K	ENSP00000256186:E488K	E	+	1	0	0	MICALCL	12297854	12297854	0.616000	0.27035	0.339000	0.25562	0.465000	0.32709	3.063000	0.49978	2.753000	0.94483	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	1	0	1		2	2	2	0		0	0	112		112	108	1	2.060000	-3.070107	1	0.170000	NM_032867			101	100		443	436	1		1	0		0	0	112	0		1	9.217885e-02	0	1	0	2	0	101	443
HSPA8	3312	broad.mit.edu	37	11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000532636.1	-	5	1032	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	305	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)			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)		TCAGCATTCAGTTCTTCAAAT	0.498																																					Colon(21;486 594 5900 6733 14272)	ENST00000532636.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(913-915)Ctg>Atg		heat shock 70kDa protein 8							48.0	50.0	49.0					11																	122930388		2202	4299	6501	SO:0001583	missense	3312	0	0					g.chr11:122930388G>T	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.913C>A	chr11.hg19:g.122930388G>T	ENSP00000437125:p.Leu305Met	0					HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|SNORD14E_ENST00000364009.1_RNA|SNORD14C_ENST00000365382.1_RNA	p.L305M			1	2	3	1.991067	P11142	HSP7C_HUMAN		5	1032	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	1	1	hg19	c.913C>A	CCDS8440.1	1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926013	0.52759	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01838	4.61;4.61;4.61;4.61;4.61;4.61;4.61;4.61	4.65	0.489	0.16854	4.65	0.489	0.16854	.	0.166857	0.38778	N	0.001580	T	0.08626	0.0214	M	0.69523	2.12	0.80722	D	1	P;D;D;P	0.69078	0.877;0.997;0.997;0.877	P;D;D;P	0.75020	0.553;0.985;0.974;0.553	T	0.01349	-1.1378	10	0.56958	D	0.05	-13.7035	9.267	0.37647	0.3321:0.0:0.6679:0.0	.	305;305;305;305	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	M	305;159;305;305;305;69;286;245	ENSP00000437125:L305M;ENSP00000437189:L159M;ENSP00000432083:L305M;ENSP00000404372:L305M;ENSP00000227378:L305M;ENSP00000433316:L69M;ENSP00000433584:L286M;ENSP00000432884:L245M	ENSP00000227378:L305M	L	-	1	2	2	HSPA8	122435598	122435598	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.041000	0.41213	-0.027000	0.13873	-0.369000	0.07265	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				45	44		225	220	1		1	1		0	0	58	0		1	1	0	1350	0	3581	0	45	225
GRAMD1B	57476	broad.mit.edu	37	11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A	rs573181030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	488						integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)		ACGCTCACCCGTGTGGCTCGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17858	0.0		0.001	False		,,,				2504	0.0					ENST00000529750.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1462-1464)cGt>cAt		GRAM domain containing 1B							112.0	112.0	112.0					11																	123481019		2024	4176	6200	SO:0001583	missense	57476	2	120966	35				g.chr11:123481019G>A	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.1463G>A	chr11.hg19:g.123481019G>A	ENSP00000436500:p.Arg488His	0					GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H	p.R488H	NM_020716.1	NP_065767.1	1	2	3	1.991067	Q3KR37	GRM1B_HUMAN		13	1790	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	1	1	hg19	c.1463G>A	CCDS53720.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981378	0.93044	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.925;0.998;0.869;0.943	T	0.38757	-0.9646	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	448;179;488;495	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	495;495;488;488;448;179	ENSP00000402457:R495H;ENSP00000325628:R488H;ENSP00000436500:R488H;ENSP00000432987:R448H;ENSP00000388458:R179H	ENSP00000325628:R488H	R	+	2	0	0	GRAMD1B	122986229	122986229	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.388000	0.97237	2.554000	0.86153	0.561000	0.74099	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	XM_370660			74	72		370	361	1		1	1		0	0	101	0		1	7.722927e-01	0	3	0	13	0	74	370
ZNF202	7753	broad.mit.edu	37	11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000529691.1	-	5	985	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202	256	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)		TTCTGTGTTGGGTCCAGATCA	0.428																																						ENST00000529691.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(766-768)Cca>Tca		zinc finger protein 202							123.0	112.0	116.0					11																	123598907		2202	4299	6501	SO:0001583	missense	7753	0	0					g.chr11:123598907G>A	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.766C>T	chr11.hg19:g.123598907G>A	ENSP00000433881:p.Pro256Ser	0					ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S	p.P256S			1	2	3	1.991067	O95125	ZN202_HUMAN		5	985	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	1	1	hg19	c.766C>T	CCDS8443.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828829	0.71258	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.02280	4.36;4.36;4.36	5.11	5.11	0.69529	5.11	5.11	0.69529	Krueppel-associated box (4);	0.000000	0.47852	D	0.000214	T	0.08133	0.0203	L	0.52364	1.645	0.37552	D	0.91871	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.44086	T	0.13	-13.3373	11.8553	0.52433	0.0:0.1767:0.8232:0.0	.	256	O95125	ZN202_HUMAN	S	256	ENSP00000337724:P256S;ENSP00000432504:P256S;ENSP00000433881:P256S	ENSP00000337724:P256S	P	-	1	0	0	ZNF202	123104117	123104117	0.791000	0.28800	0.997000	0.53966	0.977000	0.68977	1.793000	0.38764	2.382000	0.81193	0.561000	0.74099	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-2.933966	1	0.170000	NM_003455			66	66		299	294	1		1	1		0	0	72	0		1	9.588614e-01	0	6	0	20	0	66	299
ZNF202	7753	broad.mit.edu	37	11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000529691.1	-	2	577	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202	120	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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)		CCCTCCACCAGCGTCACTGCC	0.582																																						ENST00000529691.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(358-360)Ctg>Atg		zinc finger protein 202							113.0	104.0	107.0					11																	123601239		2202	4299	6501	SO:0001583	missense	7753	0	0					g.chr11:123601239G>T	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.358C>A	chr11.hg19:g.123601239G>T	ENSP00000433881:p.Leu120Met	0					ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M	p.L120M			1	2	3	1.991067	O95125	ZN202_HUMAN		2	577	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	1	1	hg19	c.358C>A	CCDS8443.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279525	0.59758	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.57	3.66	0.41972	4.57	3.66	0.41972	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37304	N	0.002147	T	0.19725	0.0474	L	0.48174	1.505	0.33660	D	0.609537	D	0.76494	0.999	D	0.91635	0.999	T	0.14587	-1.0467	10	0.59425	D	0.04	-12.847	10.1465	0.42767	0.0971:0.0:0.9029:0.0	.	120	O95125	ZN202_HUMAN	M	120	ENSP00000337724:L120M;ENSP00000432504:L120M;ENSP00000433881:L120M;ENSP00000431223:L120M	ENSP00000337724:L120M	L	-	1	2	2	ZNF202	123106449	123106449	0.945000	0.32115	0.997000	0.53966	0.913000	0.54294	1.429000	0.34903	1.146000	0.42352	0.455000	0.32223	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	1	0	1		2	2	2	0		0	0	174		174	171	1	2.060000	-20.000000	1	0.170000	NM_003455			115	112		571	550	1		1	1		0	0	174	0		1	8.698841e-01	0	8	0	12	0	115	571
OR6X1	390260	broad.mit.edu	37	11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		ACTGTCAGGTGCGAGGCACAG	0.458																																						ENST00000327930.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(724-726)Cac>Tac		olfactory receptor, family 6, subfamily X, member 1							103.0	83.0	90.0					11																	123624503		2202	4299	6501	SO:0001583	missense	390260	0	0					g.chr11:123624503G>A	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.724C>T	chr11.hg19:g.123624503G>A	ENSP00000333724:p.His242Tyr	0						p.H242Y	NM_001005188.1	NP_001005188.1	1	2	3	1.991067	Q8NH79	OR6X1_HUMAN		1	750	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	1	1	hg19	c.724C>T	CCDS31695.1	1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858060	0.71834	.	.	ENSG00000221931	ENST00000327930	T	0.00314	8.14	4.2	4.2	0.49525	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.97158	3.95	0.46954	D	0.999262	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	9	0.87932	D	0	-14.9416	14.1152	0.65149	0.0:0.0:1.0:0.0	.	242	Q8NH79	OR6X1_HUMAN	Y	242	ENSP00000333724:H242Y	ENSP00000333724:H242Y	H	-	1	0	0	OR6X1	123129713	123129713	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	8.908000	0.92640	2.191000	0.70037	0.650000	0.86243	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_001005188			70	70		353	347	1		1			0	0	83	0		1	0	0	0	0	0	0	70	353
OR6X1	390260	broad.mit.edu	37	11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TTGCCACAGAATGGCAACTGG	0.512																																						ENST00000327930.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(496-498)Ttc>Gtc		olfactory receptor, family 6, subfamily X, member 1							95.0	96.0	96.0					11																	123624731		2202	4299	6501	SO:0001583	missense	390260	0	0					g.chr11:123624731A>C	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.496T>G	chr11.hg19:g.123624731A>C	ENSP00000333724:p.Phe166Val	0						p.F166V	NM_001005188.1	NP_001005188.1	1	2	3	1.991067	Q8NH79	OR6X1_HUMAN		1	522	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	1	1	hg19	c.496T>G	CCDS31695.1	1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772160	0.69992	.	.	ENSG00000221931	ENST00000327930	T	0.00145	8.67	4.69	4.69	0.59074	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.90369	3.11	0.40301	D	0.978608	D	0.53312	0.959	P	0.55508	0.777	T	0.70554	-0.4840	9	0.87932	D	0	-16.1591	12.1541	0.54066	1.0:0.0:0.0:0.0	.	166	Q8NH79	OR6X1_HUMAN	V	166	ENSP00000333724:F166V	ENSP00000333724:F166V	F	-	1	0	0	OR6X1	123129941	123129941	1.000000	0.71417	0.872000	0.34217	0.713000	0.41058	4.554000	0.60760	1.982000	0.57802	0.528000	0.53228	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	0		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001005188			84	82		390	386	1		1			0	0	98	0		1	0	0	0	0	0	0	84	390
OR6X1	390260	broad.mit.edu	37	11	123624777	123624777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CAATGGTGAAGCCCACCACCC	0.517																																						ENST00000327930.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(448-450)ggC>ggT		olfactory receptor, family 6, subfamily X, member 1							101.0	103.0	103.0					11																	123624777		2202	4299	6501	SO:0001819	synonymous_variant	390260	0	0					g.chr11:123624777G>A	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.450C>T	chr11.hg19:g.123624777G>A		0						p.G150G	NM_001005188.1	NP_001005188.1	1	2	3	1.991067	Q8NH79	OR6X1_HUMAN		1	476	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	1	1	hg19	c.450C>T	CCDS31695.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_001005188			65	63		347	344	1		1			0	0	82	0		1	0	0	0	0	0	0	65	347
OR6M1	390261	broad.mit.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TGTCACAGAAGAAATGATTAA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		22215	0.001		0.0	False		,,,				2504	0.0					ENST00000309154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(520-522)ttC>ttA		olfactory receptor, family 6, subfamily M, member 1							66.0	65.0	65.0					11																	123676536		2202	4299	6501	SO:0001583	missense	390261	11	121402	41				g.chr11:123676536G>T	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.522C>A	chr11.hg19:g.123676536G>T	ENSP00000311038:p.Phe174Leu	0						p.F174L	NM_001005325.1	NP_001005325.1	1	2	3	1.991067	Q8NGM8	OR6M1_HUMAN		1	559	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	1	1	hg19	c.522C>A	CCDS31696.1	1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	2	OR6M1	123181746	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001005325			64	63		255	249	1		1			0	0	74	0		1	0	0	0	0	0	0	64	255
MICALCL	84953	broad.mit.edu	37	11	12371470	12371470	+	Silent	SNP	G	G	A	rs189290736	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12371470G>A	ENST00000256186.2	+	7	2106	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.S605S(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)		GATATGAGTCGGAGCTCCTAA	0.473													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.0					ENST00000256186.2	1.000000	0.110000	4.000000e-01	1.800000e-01	0.270000	0.311981	0.270000	0.250000																										1	Substitution - coding silent(1)	p.S605S(1)	large_intestine(1)	30						c.(1813-1815)tcG>tcA		MICAL C-terminal like		G		17,3849		0,17,1916	94.0	89.0	91.0		1815	-2.8	1.0	11		91	0,8254		0,0,4127	no	coding-synonymous	MICALCL	NM_032867.2		0,17,6043	AA,AG,GG		0.0,0.4397,0.1403		605/696	12371470	17,12103	1933	4127	6060	SO:0001819	synonymous_variant	84953	51	120844	48				g.chr11:12371470G>A	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.1815G>A	chr11.hg19:g.12371470G>A		0						p.S605S	NM_032867.2	NP_116256.2	1	2	3	1.993097	Q6ZW33	MICLK_HUMAN		7	2106	+			Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	0	1	hg19	c.1815G>A	CCDS41620.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.135003	1	0.170000	NM_032867			7	7		318	313	0		1	0		0	0	42	0		9.798050e-01	2.098367e-02	0	0	0	9	0	7	318
OR6M1	390261	broad.mit.edu	37	11	123676620	123676620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676620G>T	ENST00000309154.2	-	1	475	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CTCCCACCCAGCATCCCAGAA	0.507																																						ENST00000309154.2	1.000000	0.110000	4.200000e-01	1.800000e-01	0.280000	0.323282	0.280000	0.260000																										0				29						c.(436-438)tgC>tgA		olfactory receptor, family 6, subfamily M, member 1							46.0	48.0	47.0					11																	123676620		2201	4299	6500	SO:0001587	stop_gained	390261	0	0					g.chr11:123676620G>T	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.438C>A	chr11.hg19:g.123676620G>T	ENSP00000311038:p.Cys146*	0						p.C146*	NM_001005325.1	NP_001005325.1	1	2	3	1.991067	Q8NGM8	OR6M1_HUMAN		1	475	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	ENST00000309154.2	0	1	hg19	c.438C>A	CCDS31696.1	0	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810325	0.50421	.	.	ENSG00000196099	ENST00000309154	.	.	.	3.68	0.438	0.16560	3.68	0.438	0.16560	.	0.000000	0.36167	U	0.002747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.4638	0.16632	0.5274:0.0:0.4726:0.0	.	.	.	.	X	146	.	ENSP00000311038:C146X	C	-	3	2	2	OR6M1	123181830	123181830	0.000000	0.05858	0.740000	0.30986	0.589000	0.36550	-0.806000	0.04525	0.242000	0.21303	0.655000	0.94253	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	0	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-6.801253	1	0.170000	NM_001005325			6	6		266	261	0		1			0	0	60	0		9.633976e-01	0	0	0	0	0	0	6	266
TMEM225	338661	broad.mit.edu	37	11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	187					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433																																						ENST00000375026.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(559-561)tCt>tTt		transmembrane protein 225							130.0	121.0	124.0					11																	123753963		2202	4299	6501	SO:0001583	missense	338661	0	0					g.chr11:123753963G>A	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.560C>T	chr11.hg19:g.123753963G>A	ENSP00000364166:p.Ser187Phe	0						p.S187F	NM_001013743.1	NP_001013765.1	1	2	3	1.991067	Q6GV28	TM225_HUMAN		4	776	-				Missense_Mutation	SNP	ENST00000375026.2	1	1	hg19	c.560C>T	CCDS31697.1	1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963711	0.18583	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.37752	1.22;1.18	3.76	1.77	0.24775	3.76	1.77	0.24775	.	0.346611	0.21360	N	0.075801	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.49561	0.615	T	0.10660	-1.0620	10	0.87932	D	0	-9.4676	8.4555	0.32897	0.0:0.0:0.5761:0.4239	.	187	Q6GV28	TM225_HUMAN	F	187;137	ENSP00000364166:S187F;ENSP00000431282:S137F	ENSP00000364166:S187F	S	-	2	0	0	TMEM225	123259173	123259173	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.700000	0.25601	0.504000	0.28082	-0.268000	0.10319	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_001013743			68	65		311	309	1		1			0	0	55	0		1	0	0	0	0	0	0	68	311
TMEM225	338661	broad.mit.edu	37	11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	143					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453																																						ENST00000375026.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(427-429)Act>Cct		transmembrane protein 225							127.0	119.0	122.0					11																	123754818		2202	4299	6501	SO:0001583	missense	338661	0	0					g.chr11:123754818T>G	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.427A>C	chr11.hg19:g.123754818T>G	ENSP00000364166:p.Thr143Pro	0						p.T143P	NM_001013743.1	NP_001013765.1	1	2	3	1.991067	Q6GV28	TM225_HUMAN		3	643	-				Missense_Mutation	SNP	ENST00000375026.2	1	1	hg19	c.427A>C	CCDS31697.1	1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375561	0.42105	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69175	-0.38;-0.38	4.74	-0.839	0.10759	4.74	-0.839	0.10759	.	0.487163	0.17515	N	0.171460	T	0.62720	0.2451	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.52215	-0.8605	10	0.62326	D	0.03	-1.9637	2.6171	0.04907	0.3711:0.2056:0.0:0.4233	.	143	Q6GV28	TM225_HUMAN	P	143;93	ENSP00000364166:T143P;ENSP00000431282:T93P	ENSP00000364166:T143P	T	-	1	0	0	TMEM225	123260028	123260028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.004000	0.14682	-0.263000	0.10527	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_001013743			88	83		347	333	1		1			0	0	58	0		1	0	0	0	0	0	0	88	347
TMEM225	338661	broad.mit.edu	37	11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	126					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373																																						ENST00000375026.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(376-378)caA>caC		transmembrane protein 225							126.0	123.0	124.0					11																	123754867		2202	4299	6501	SO:0001583	missense	338661	0	0					g.chr11:123754867T>G	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.378A>C	chr11.hg19:g.123754867T>G	ENSP00000364166:p.Gln126His	0						p.Q126H	NM_001013743.1	NP_001013765.1	1	2	3	1.991067	Q6GV28	TM225_HUMAN		3	594	-				Missense_Mutation	SNP	ENST00000375026.2	1	1	hg19	c.378A>C	CCDS31697.1	1	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238253	0.10023	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	0.998	0.19857	4.84	0.998	0.19857	.	0.666048	0.13298	N	0.398474	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.30880	-0.9963	10	0.49607	T	0.09	-0.9408	3.1305	0.06421	0.1383:0.0847:0.1405:0.6364	.	126	Q6GV28	TM225_HUMAN	H	126;76	ENSP00000364166:Q126H;ENSP00000431282:Q76H	ENSP00000364166:Q126H	Q	-	3	2	2	TMEM225	123260077	123260077	0.454000	0.25728	0.099000	0.21106	0.001000	0.01503	0.556000	0.23438	0.032000	0.15435	-1.532000	0.00920	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001013743			98	97		444	430	1		1			0	0	77	0		1	0	0	0	0	0	0	98	444
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																						ENST00000321355.2	1.000000	0.770000	1	8.500000e-01	0.940000	0.934627	0.940000	1.000000																										0				25						c.(508-510)gGa>gTa		olfactory receptor, family 8, subfamily D, member 4							218.0	214.0	216.0					11																	123777647		2202	4299	6501	SO:0001583	missense	338662	0	0					g.chr11:123777647G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>T	chr11.hg19:g.123777647G>T	ENSP00000325381:p.Gly170Val	0						p.G170V	NM_001005197.1	NP_001005197.1	1	2	3	1.991067	Q8NGM9	OR8D4_HUMAN		1	539	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	1	1	hg19	c.509G>T	CCDS31698.1	1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629197	0.28978	.	.	ENSG00000181518	ENST00000321355	T	0.38401	1.14	5.81	1.35	0.21983	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.58935	0.2157	M	0.88704	2.975	0.09310	N	1	P	0.50528	0.936	P	0.62885	0.908	T	0.50516	-0.8819	10	0.51188	T	0.08	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	V	170	ENSP00000325381:G170V	ENSP00000325381:G170V	G	+	2	0	0	OR8D4	123282857	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	1	0	1		2	2	2	0		0	0	219		219	216	1	2.060000	-19.838590	1	0.170000	NM_001005197			100	99		1151	1122	0		1			0	0	219	0		1	0	0	0	0	0	0	100	1151
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GGACCCTATTGGTCCCCTGGA	0.502																																						ENST00000307033.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(928-930)Ggt>Tgt		olfactory receptor, family 4, subfamily D, member 5		G	CYS/GLY	0,4404		0,0,2202	63.0	64.0	64.0		928	0.9	0.0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense	219875	1	121404	33				g.chr11:123811251G>T	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.928G>T	chr11.hg19:g.123811251G>T	ENSP00000305970:p.Gly310Cys	0						p.G310C	NM_001001965.1	NP_001001965.1	1	2	3	1.991067	Q8NGN0	OR4D5_HUMAN		1	1002	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	1	1	hg19	c.928G>T	CCDS31699.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	0	OR4D5	123316461	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-2.789015	1	0.170000	NM_001001965			70	69		322	315	1		1			0	0	71	0		1	0	0	0	0	0	0	70	322
OR6T1	219874	broad.mit.edu	37	11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537																																						ENST00000321252.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999742	0.990000	1.000000																										1	Substitution - Missense(1)	p.A223S(1)	large_intestine(1)	40						c.(667-669)Gcc>Acc		olfactory receptor, family 6, subfamily T, member 1							86.0	81.0	83.0					11																	123813879		2202	4299	6501	SO:0001583	missense	219874	0	0					g.chr11:123813879C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.667G>A	chr11.hg19:g.123813879C>T	ENSP00000325203:p.Ala223Thr	0						p.A223T	NM_001005187.1	NP_001005187.1	1	2	3	1.991067	Q8NGN1	OR6T1_HUMAN		1	701	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	1	1	hg19	c.667G>A	CCDS31700.1	1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190997	0.09547	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	0.481	0.16809	3.7	0.481	0.16809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23404	-1.0189	9	0.59425	D	0.04	-13.4277	1.7649	0.03000	0.3642:0.3464:0.1786:0.1108	.	223	Q8NGN1	OR6T1_HUMAN	T	223	ENSP00000325203:A223T	ENSP00000325203:A223T	A	-	1	0	0	OR6T1	123319089	123319089	0.000000	0.05858	0.039000	0.18376	0.603000	0.37013	-3.221000	0.00552	-0.097000	0.12307	0.563000	0.77884	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_001005187			43	43		300	293	1		1			0	0	92	0		1	0	0	0	0	0	0	43	300
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V229I(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)		TAGGAAATAACGATGAGGATG	0.592																																						ENST00000531945.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V229I(1)	large_intestine(1)	36						c.(685-687)Gtt>Att		olfactory receptor, family 10, subfamily S, member 1							53.0	48.0	50.0					11																	123847714		2202	4299	6501	SO:0001583	missense	219873	6	121412	39				g.chr11:123847714C>T	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.685G>A	chr11.hg19:g.123847714C>T	ENSP00000431914:p.Val229Ile	0						p.V229I	NM_001004474.1	NP_001004474.1	1	2	3	1.991067	Q8NGN2	O10S1_HUMAN		1	774	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	1	1	hg19	c.685G>A	CCDS31701.1	1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	0	OR10S1	123352924	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.171593	0	0.170000	NM_001004474			76	73		299	294	1		1			0	0	69	0		1	0	0	0	0	0	0	76	299
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GTAGAGCAGGCGGAAGGTGAG	0.552																																						ENST00000531945.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(535-537)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1		C	HIS/ARG	0,4404		0,0,2202	102.0	88.0	92.0		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense	219873	3	121412	36				g.chr11:123847863C>T	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.536G>A	chr11.hg19:g.123847863C>T	ENSP00000431914:p.Arg179His	0						p.R179H	NM_001004474.1	NP_001004474.1	1	2	3	1.991067	Q8NGN2	O10S1_HUMAN		1	625	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	1	1	hg19	c.536G>A	CCDS31701.1	1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	0	OR10S1	123353073	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.241267	1	0.170000	NM_001004474			58	57		297	291	1		1			0	0	61	0		1	0	0	0	0	0	0	58	297
OR10G9	219870	broad.mit.edu	37	11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GTGGTCCTTTGCTTTTTTGTT	0.532																																						ENST00000375024.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(745-747)tGc>tAc		olfactory receptor, family 10, subfamily G, member 9							166.0	147.0	154.0					11																	123894465		2201	4299	6500	SO:0001583	missense	219870	0	0					g.chr11:123894465G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.746G>A	chr11.hg19:g.123894465G>A	ENSP00000364164:p.Cys249Tyr	0						p.C249Y	NM_001001953.1	NP_001001953.1	1	2	3	1.991067	Q8NGN4	O10G9_HUMAN		1	746	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		Missense_Mutation	SNP	ENST00000375024.1	1	1	hg19	c.746G>A	CCDS31703.1	1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212605	0.39102	.	.	ENSG00000236981	ENST00000375024	T	0.00076	8.76	3.35	3.35	0.38373	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00241	0.0007	N	0.22421	0.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.6678	0.39994	0.0:0.3635:0.6365:0.0	.	249	Q8NGN4	O10G9_HUMAN	Y	249	ENSP00000364164:C249Y	ENSP00000364164:C249Y	C	+	2	0	0	OR10G9	123399675	123399675	0.000000	0.05858	0.970000	0.41538	0.819000	0.46315	0.517000	0.22832	1.884000	0.54569	0.586000	0.80456	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000	NM_001001953			122	118		495	482	1		1			0	0	118	0		1	0	0	0	0	0	0	122	495
OR10G7	390265	broad.mit.edu	37	11	123909487	123909487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123909487G>A	ENST00000330487.5	-	1	230	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		TGGGCACCGTGACAGTGGAGA	0.537																																						ENST00000330487.5	1.000000	0.250000	4.700000e-01	3.000000e-01	0.370000	0.405981	0.370000	0.370000																										0				47						c.(220-222)gtC>gtT		olfactory receptor, family 10, subfamily G, member 7							88.0	96.0	94.0					11																	123909487		2200	4297	6497	SO:0001819	synonymous_variant	390265	0	0					g.chr11:123909487G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.222C>T	chr11.hg19:g.123909487G>A		0						p.V74V	NM_001004463.1	NP_001004463.1	1	2	3	1.991067	Q8NGN6	O10G7_HUMAN		1	230	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Q6IFE8	Silent	SNP	ENST00000330487.5	0	1	hg19	c.222C>T	CCDS31705.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	0	0	1		2	2	2	0		0	0	146		146	200	1	2.060000	-3.167245	1	0.170000	NM_001004463			27	20		831	577	0		1			0	0	146	0		9.999959e-01	0	0	0	0	0	0	27	831
VWA5A	4013	broad.mit.edu	37	11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000456829.2	+	8	1160	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	303	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									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						ATACATCTCAGCTGCGAATAC	0.473																																						ENST00000456829.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(907-909)caG>caT		von Willebrand factor A domain containing 5A							74.0	64.0	67.0					11																	123993815		2201	4299	6500	SO:0001583	missense	4013	0	0					g.chr11:123993815G>T	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.909G>T	chr11.hg19:g.123993815G>T	ENSP00000407726:p.Gln303His	0					VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H	p.Q303H	NM_001130142.1	NP_001123614.1	1	2	3	1.991067	O00534	VMA5A_HUMAN		8	1160	+			Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	1	1	hg19	c.909G>T	CCDS8444.1	1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802283	0.50315	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22336	2.54;1.96;2.54;2.17;2.17;2.16	5.96	0.729	0.18266	5.96	0.729	0.18266	von Willebrand factor, type A (3);	0.387974	0.28940	N	0.013646	T	0.41073	0.1143	M	0.83312	2.635	0.09310	N	0.999999	P;D	0.89917	0.902;1.0	B;D	0.77557	0.411;0.99	T	0.17653	-1.0362	10	0.54805	T	0.06	-12.7857	5.2398	0.15465	0.4039:0.1379:0.4582:0.0	.	319;303	B4DHS6;O00534	.;VMA5A_HUMAN	H	303;303;303;303;303;319	ENSP00000407726:Q303H;ENSP00000353485:Q303H;ENSP00000376504:Q303H;ENSP00000355070:Q303H;ENSP00000404683:Q303H;ENSP00000376501:Q319H	ENSP00000353485:Q303H	Q	+	3	2	2	VWA5A	123499025	123499025	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.323000	0.19593	-0.104000	0.12154	-0.150000	0.13652	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_014622			45	43		139	137	1		1	1		0	0	45	0		1	1	0	79	0	125	0	45	139
OR8G5	219865	broad.mit.edu	37	11	124135190	124135190	+	Silent	SNP	C	C	T	rs369576334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124135190C>T	ENST00000524943.2	+	1	468	c.468C>T	c.(466-468)gaC>gaT	p.D156D	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	156						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)		TGGCATATGACGGCTACGTGG	0.443													c|||	1	0.000199681	0.0	0.0	5008	,	,		23102	0.0		0.0	False		,,,				2504	0.001				Ovarian(169;523 1969 8640 31295 51256)	ENST00000524943.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(466-468)gaC>gaT		olfactory receptor, family 8, subfamily G, member 5		C		0,4330		0,0,2165	208.0	200.0	203.0		468	-1.2	1.0	11		203	1,8575		0,1,4287	no	coding-synonymous	OR8G5	NM_001005198.1		0,1,6452	TT,TC,CC		0.0117,0.0,0.0077		156/347	124135190	1,12905	2165	4288	6453	SO:0001819	synonymous_variant	219865	8	121250	44				g.chr11:124135190C>T	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.468C>T	chr11.hg19:g.124135190C>T		0					OR8G1_ENST00000341493.2_RNA	p.D156D	NM_001005198.1	NP_001005198.1	1	2	3	1.991067	Q8NG78	OR8G5_HUMAN		1	468	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B2RND3|Q6IEU6	Silent	SNP	ENST00000524943.2	0	1	hg19	c.468C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	0	0	1		18	2	2	1		1	1	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_001005198			131	129		596	590	0		1			1	0	143	0		1	0	0	0	0	0	0	131	596
OR8D2	283160	broad.mit.edu	37	11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408																																						ENST00000357438.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(349-351)Gcc>Tcc		olfactory receptor, family 8, subfamily D, member 2							81.0	77.0	79.0					11																	124189745		2201	4299	6500	SO:0001583	missense	283160	0	0					g.chr11:124189745C>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.349G>T	chr11.hg19:g.124189745C>A	ENSP00000350022:p.Ala117Ser	0						p.A117S	NM_001002918.1	NP_001002918.1	1	2	3	1.991067	Q9GZM6	OR8D2_HUMAN		1	439	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	1	1	hg19	c.349G>T	CCDS31707.1	1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232208	0.05983	.	.	ENSG00000197263	ENST00000357438	T	0.03065	4.06	3.6	2.68	0.31781	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.03095	0.0091	L	0.51422	1.61	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.36016	-0.9765	10	0.06236	T	0.91	.	6.9376	0.24474	0.0:0.7022:0.0:0.2978	.	117	Q9GZM6	OR8D2_HUMAN	S	117	ENSP00000350022:A117S	ENSP00000350022:A117S	A	-	1	0	0	OR8D2	123694955	123694955	0.000000	0.05858	0.068000	0.19968	0.204000	0.24138	0.169000	0.16641	1.117000	0.41842	0.420000	0.28162	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_001002918			53	52		198	195	1		1			0	0	70	0		1	0	0	0	0	0	0	53	198
OR8D2	283160	broad.mit.edu	37	11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, 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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438																																						ENST00000357438.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(64-66)gAa>gGa		olfactory receptor, family 8, subfamily D, member 2							68.0	68.0	68.0					11																	124190029		2200	4299	6499	SO:0001583	missense	283160	0	0					g.chr11:124190029T>C	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.65A>G	chr11.hg19:g.124190029T>C	ENSP00000350022:p.Glu22Gly	0						p.E22G	NM_001002918.1	NP_001002918.1	1	2	3	1.991067	Q9GZM6	OR8D2_HUMAN		1	155	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	1	1	hg19	c.65A>G	CCDS31707.1	1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902945	0.33628	.	.	ENSG00000197263	ENST00000357438	T	0.00444	7.4	3.42	2.3	0.28687	3.42	2.3	0.28687	.	0.142247	0.31577	N	0.007408	T	0.00384	0.0012	L	0.46741	1.465	0.26868	N	0.967817	D	0.56035	0.974	P	0.47981	0.563	T	0.55431	-0.8142	10	0.40728	T	0.16	.	8.0264	0.30440	0.0:0.1052:0.0:0.8948	.	22	Q9GZM6	OR8D2_HUMAN	G	22	ENSP00000350022:E22G	ENSP00000350022:E22G	E	-	2	0	0	OR8D2	123695239	123695239	0.001000	0.12720	0.939000	0.37840	0.187000	0.23431	0.995000	0.29706	0.712000	0.32039	0.324000	0.21423	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_001002918			104	103		411	402	1		1			0	0	137	0		1	0	0	0	0	0	0	104	411
OR8B8	26493	broad.mit.edu	37	11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	99					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)			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)		AAGAGCTGAGTCATACACCCT	0.438																																						ENST00000328064.2	1.000000	0.650000	1	7.800000e-01	0.940000	0.910372	0.940000	1.000000																										0				39						c.(295-297)Act>Cct		olfactory receptor, family 8, subfamily B, member 8							94.0	92.0	92.0					11																	124310687		2201	4299	6500	SO:0001583	missense	26493	0	0					g.chr11:124310687T>G	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.295A>C	chr11.hg19:g.124310687T>G	ENSP00000330280:p.Thr99Pro	0						p.T99P	NM_012378.1	NP_036510.1	1	2	3	1.991067	Q15620	OR8B8_HUMAN		1	367	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	1	1	hg19	c.295A>C	CCDS8446.1	1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106168	0.56291	.	.	ENSG00000197125	ENST00000328064	T	0.08896	3.04	3.52	3.52	0.40303	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.138563	0.33346	N	0.005003	T	0.28665	0.0710	M	0.94142	3.5	0.31201	N	0.699808	D	0.56746	0.977	P	0.57620	0.824	T	0.43734	-0.9373	10	0.87932	D	0	.	6.2589	0.20889	0.0:0.1584:0.0:0.8416	.	99	Q15620	OR8B8_HUMAN	P	99	ENSP00000330280:T99P	ENSP00000330280:T99P	T	-	1	0	0	OR8B8	123815897	123815897	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.976000	0.01497	1.831000	0.53308	0.455000	0.32223	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_012378			29	29		336	330	0		1			0	0	82	0		1	0	0	0	0	0	0	29	336
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	rs369152224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		GGCCACGTAGCGGTCATACGC	0.502																																						ENST00000306842.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				31						c.(361-363)cGc>cAc		olfactory receptor, family 8, subfamily B, member 12		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	97.0	85.0	89.0		362	3.0	1.0	11		89	0,8598		0,0,4299	no	missense	OR8B12	NM_001005195.1	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	121/311	124413189	1,12999	2201	4299	6500	SO:0001583	missense	219858	4	121408	38				g.chr11:124413189C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.362G>A	chr11.hg19:g.124413189C>T	ENSP00000307159:p.Arg121His	0						p.R121H	NM_001005195.1	NP_001005195.1	1	2	3	1.991067	Q8NGG6	OR8BC_HUMAN		1	386	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	1	1	hg19	c.362G>A	CCDS31711.1	1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	0	OR8B12	123918399	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-19.383230	1	0.170000				41	41		249	245	1		1			0	0	85	0		1	0	0	0	0	0	0	41	249
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371					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)			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)		TGCCAAAAGGCGAGTCTCTAT	0.468																																						ENST00000263593.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1111-1113)tcG>tcA		sialic acid acetylesterase							173.0	144.0	154.0					11																	124509617		2201	4299	6500	SO:0001819	synonymous_variant	54414	1	121412	36				g.chr11:124509617C>T	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.1113G>A	chr11.hg19:g.124509617C>T		0					SIAE_ENST00000545756.1_Silent_p.S336S	p.S371S			1	2	3	1.991067	Q9HAT2	SIAE_HUMAN		8	1285	-	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)	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	1	1	hg19	c.1113G>A	CCDS8449.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	0	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.833728	1	0.170000	NM_170601			124	122		473	462	1		1	1		0	0	113	0		1	1	0	99	0	192	0	124	473
SPA17	53340	broad.mit.edu	37	11	124545184	124545184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SIAE_ENST00000263593.3_5'Flank|SPA17_ENST00000227135.2_Silent_p.T8T|SIAE_ENST00000525730.1_5'UTR|SIAE_ENST00000545756.1_5'Flank			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	8					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418																																						ENST00000532692.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(22-24)acC>acT		sperm autoantigenic protein 17							111.0	107.0	108.0					11																	124545184		2201	4299	6500	SO:0001819	synonymous_variant	53340	0	0					g.chr11:124545184C>T	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.24C>T	chr11.hg19:g.124545184C>T		0					SIAE_ENST00000545756.1_5'Flank|SIAE_ENST00000263593.3_5'Flank|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Silent_p.T8T	p.T8T			1	2	3	1.991067	Q15506	SP17_HUMAN		1	1445	+	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)	B2R4F2|Q9BXF7	Silent	SNP	ENST00000532692.1	1	1	hg19	c.24C>T	CCDS8450.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.017801	1	0.170000	NM_017425			71	69		450	444	1		1	1		0	0	109	0		1	9.969190e-01	0	21	0	36	0	71	450
VSIG2	23584	broad.mit.edu	37	11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000326621.5	-	6	866	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.L256M	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	256						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				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)		GCAACTGACAGCAACAGCACG	0.582																																						ENST00000326621.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(766-768)Ctg>Atg		V-set and immunoglobulin domain containing 2							98.0	88.0	91.0					11																	124618371		2201	4299	6500	SO:0001583	missense	23584	0	0					g.chr11:124618371G>T	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.766C>A	chr11.hg19:g.124618371G>T	ENSP00000318684:p.Leu256Met	0					VSIG2_ENST00000403470.1_Missense_Mutation_p.L256M|RP11-677M14.2_ENST00000531241.1_RNA	p.L256M	NM_014312.3	NP_055127.2	1	2	3	1.991067	Q96IQ7	VSIG2_HUMAN		6	866	-	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)	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	1	1	hg19	c.766C>A	CCDS8452.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579365	0.65878	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.77489	-1.1;-1.08	5.65	3.6	0.41247	5.65	3.6	0.41247	.	0.270881	0.27366	N	0.019694	D	0.86049	0.5840	M	0.82823	2.61	0.32550	N	0.532482	D	0.76494	0.999	D	0.85130	0.997	D	0.87226	0.2257	10	0.72032	D	0.01	.	6.5355	0.22350	0.2235:0.0:0.7765:0.0	.	256	Q96IQ7	VSIG2_HUMAN	M	256	ENSP00000318684:L256M;ENSP00000385013:L256M	ENSP00000318684:L256M	L	-	1	2	2	VSIG2	124123581	124123581	0.997000	0.39634	0.953000	0.39169	0.928000	0.56348	1.559000	0.36320	1.560000	0.49568	0.655000	0.94253	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.414569	1	0.170000	NM_014312			70	70		315	304	1		1	1		0	0	72	0		1	8.988552e-01	0	3	0	17	0	70	315
ROBO3	64221	broad.mit.edu	37	11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	137	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		CGCGCGGCCGGACGAAGGTGT	0.687																																						ENST00000397801.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.994875	0.990000	1.000000																										0				35						c.(409-411)Gac>Aac		roundabout, axon guidance receptor, homolog 3 (Drosophila)							11.0	14.0	13.0					11																	124738946		1920	4110	6030	SO:0001583	missense	64221	0	0					g.chr11:124738946G>A	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.409G>A	chr11.hg19:g.124738946G>A	ENSP00000380903:p.Asp137Asn	0					ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	p.D137N	NM_022370.3	NP_071765.2	1	2	3	1.991067	Q96MS0	ROBO3_HUMAN		2	601	+	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)		Missense_Mutation	SNP	ENST00000397801.1	0	1	hg19	c.409G>A	CCDS44755.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.791849	0.96945	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.80994	-1.44;-1.44	4.71	4.71	0.59529	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000579	D	0.91791	0.7403	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	.	17.2808	0.87128	0.0:0.0:1.0:0.0	.	137	Q96MS0	ROBO3_HUMAN	N	137;115	ENSP00000380903:D137N;ENSP00000441797:D115N	ENSP00000380903:D137N	D	+	1	0	0	ROBO3	124244156	124244156	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.801000	0.99128	2.171000	0.68590	0.462000	0.41574	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.806980	1	0.170000	XM_370663			11	11		63	63	1		1			0	0	12	0		9.987678e-01	0	0	0	0	0	0	11	63
ROBO3	64221	broad.mit.edu	37	11	124740119	124740119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	275	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		ATGCCCCTGTGACTTTCCTAT	0.602																																						ENST00000397801.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(823-825)gtG>gtA		roundabout, axon guidance receptor, homolog 3 (Drosophila)							100.0	102.0	102.0					11																	124740119		2033	4181	6214	SO:0001819	synonymous_variant	64221	0	0					g.chr11:124740119G>A	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.825G>A	chr11.hg19:g.124740119G>A		0					ROBO3_ENST00000538940.1_Silent_p.V253V	p.V275V	NM_022370.3	NP_071765.2	1	2	3	1.991067	Q96MS0	ROBO3_HUMAN		5	1017	+	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)		Silent	SNP	ENST00000397801.1	1	1	hg19	c.825G>A	CCDS44755.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	XM_370663			66	65		268	263	1		1			0	0	80	0		1	0	0	0	0	0	0	66	268
ROBO3	64221	broad.mit.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	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)				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)		CCGACGGGGCGCTTCTCAGTG	0.612																																						ENST00000397801.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1198-1200)cGc>cAc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							73.0	75.0	74.0					11																	124742317		2050	4198	6248	SO:0001583	missense	64221	0	0					g.chr11:124742317G>A	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.1199G>A	chr11.hg19:g.124742317G>A	ENSP00000380903:p.Arg400His	0					ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	p.R400H	NM_022370.3	NP_071765.2	1	2	3	1.991067	Q96MS0	ROBO3_HUMAN		8	1391	+	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)		Missense_Mutation	SNP	ENST00000397801.1	1	1	hg19	c.1199G>A	CCDS44755.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	0	ROBO3	124247527	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-4.246930	1	0.170000	XM_370663			75	73		258	254	1		1			0	0	59	0		1	0	0	0	0	0	0	75	258
ROBO3	64221	broad.mit.edu	37	11	124742334	124742334	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	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)				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)		AGTGTCTCCAAGAGGCCAACT	0.612																																						ENST00000397801.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1216-1218)Aga>Cga		roundabout, axon guidance receptor, homolog 3 (Drosophila)							74.0	75.0	75.0					11																	124742334		2065	4214	6279	SO:0001819	synonymous_variant	64221	0	0					g.chr11:124742334A>C	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.1216A>C	chr11.hg19:g.124742334A>C		0					ROBO3_ENST00000538940.1_Silent_p.R384R	p.R406R	NM_022370.3	NP_071765.2	1	2	3	1.991067	Q96MS0	ROBO3_HUMAN		8	1408	+	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)		Silent	SNP	ENST00000397801.1	1	1	hg19	c.1216A>C	CCDS44755.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	XM_370663			76	75		259	256	1		1			0	0	61	0		1	0	0	0	0	0	0	76	259
ROBO4	54538	broad.mit.edu	37	11	124765426	124765426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	321	Fibronectin type-III 1. {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)			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)		GTCTCACTTTGAACTCGTAGT	0.657																																						ENST00000306534.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(961-963)ttC>ttT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							47.0	54.0	52.0					11																	124765426		2200	4298	6498	SO:0001819	synonymous_variant	54538	0	0					g.chr11:124765426G>A	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.963C>T	chr11.hg19:g.124765426G>A		0					ROBO4_ENST00000533054.1_Silent_p.F176F|ROBO4_ENST00000526899.1_5'Flank	p.F321F	NM_019055.5	NP_061928.4	1	2	3	1.991067	Q8WZ75	ROBO4_HUMAN		6	1448	-	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)	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	1	1	hg19	c.963C>T	CCDS8455.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	0		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_019055			111	108		475	470	1		1	0		0	0	84	0		1	9.972136e-01	0	0	0	40	0	111	475
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A	rs534292971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {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.S307S(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)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001					ENST00000306534.3	1.000000	0.390000	7.300000e-01	4.800000e-01	0.590000	0.616062	0.590000	0.580000																										1	Substitution - coding silent(1)	p.S307S(1)	large_intestine(1)	76						c.(919-921)agC>agT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							33.0	41.0	38.0					11																	124765468		2199	4291	6490	SO:0001819	synonymous_variant	54538	27	121356	44				g.chr11:124765468G>A	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.921C>T	chr11.hg19:g.124765468G>A		0					ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	p.S307S	NM_019055.5	NP_061928.4	1	2	3	1.991067	Q8WZ75	ROBO4_HUMAN		6	1406	-	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)	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	1	1	hg19	c.921C>T	CCDS8455.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_019055			26	26		498	490	0		1	0		0	0	80	0		9.999999e-01	4.555170e-01	0	0	0	30	0	26	498
ROBO4	54538	broad.mit.edu	37	11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1. {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)			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)		GCAGGATCCGGGTTCAGCAGT	0.597																																						ENST00000306534.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(754-756)Ccg>Tcg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							75.0	76.0	76.0					11																	124765734		2201	4299	6500	SO:0001583	missense	54538	0	0					g.chr11:124765734G>A	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.754C>T	chr11.hg19:g.124765734G>A	ENSP00000304945:p.Pro252Ser	0					ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	p.P252S	NM_019055.5	NP_061928.4	1	2	3	1.991067	Q8WZ75	ROBO4_HUMAN		5	1239	-	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)	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	1	1	hg19	c.754C>T	CCDS8455.1	1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789721	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65364	-0.15;0.24	4.96	2.95	0.34219	4.96	2.95	0.34219	Fibronectin, type III (2);	0.000000	0.38663	N	0.001609	T	0.46737	0.1408	L	0.51422	1.61	0.09310	N	1	P;P	0.44734	0.763;0.842	B;B	0.36959	0.173;0.237	T	0.36986	-0.9725	10	0.30078	T	0.28	.	5.3735	0.16152	0.1024:0.0:0.685:0.2125	.	142;252	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	252;142;107	ENSP00000304945:P252S;ENSP00000437129:P107S	ENSP00000304945:P252S	P	-	1	0	0	ROBO4	124270944	124270944	0.999000	0.42202	0.949000	0.38748	0.042000	0.13812	1.314000	0.33597	1.324000	0.45282	0.561000	0.74099	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_019055			76	75		316	310	1		1	0		0	0	56	0		1	9.755326e-01	0	0	0	27	0	76	316
HEPACAM	220296	broad.mit.edu	37	11	124793679	124793679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124793679C>T	ENST00000298251.4	-	3	1060	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGTTCTCCACCATGCAGCTG	0.577																																						ENST00000298251.4	1.000000	0.150000	4.800000e-01	2.300000e-01	0.330000	0.374628	0.330000	0.310000																										0				22						c.(655-657)Gtg>Atg		hepatic and glial cell adhesion molecule							85.0	73.0	77.0					11																	124793679		2201	4299	6500	SO:0001583	missense	220296	0	0					g.chr11:124793679C>T	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.655G>A	chr11.hg19:g.124793679C>T	ENSP00000298251:p.Val219Met	0						p.V219M	NM_152722.4	NP_689935.2	1	2	3	1.991067				3	1060	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		Missense_Mutation	SNP	ENST00000298251.4	0	1	hg19	c.655G>A	CCDS8456.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.178303	0.94846	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.14266	2.52	5.56	5.56	0.83823	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053931	0.64402	D	0.000001	T	0.47021	0.1423	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.54443	-0.8293	10	0.72032	D	0.01	-9.3497	19.5031	0.95104	0.0:1.0:0.0:0.0	.	219;219	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	M	219	ENSP00000298251:V219M	ENSP00000298251:V219M	V	-	1	0	0	HEPACAM	124298889	124298889	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.814000	0.86154	2.605000	0.88082	0.655000	0.94253	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-8.790743	1	0.170000	NM_152722			8	8		289	282	0		1			0	0	50	0		9.885640e-01	0	0	0	0	0	0	8	289
CCDC15	80071	broad.mit.edu	37	11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000344762.5	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K178N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	178						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408																																						ENST00000344762.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998335	0.990000	1.000000																										0				23						c.(532-534)aaA>aaC		coiled-coil domain containing 15							54.0	49.0	50.0					11																	124845009		1840	4097	5937	SO:0001583	missense	80071	0	0					g.chr11:124845009A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.534A>C	chr11.hg19:g.124845009A>C	ENSP00000341684:p.Lys178Asn	0					CCDC15_ENST00000529051.1_Missense_Mutation_p.K178N	p.K178N	NM_025004.2	NP_079280.2	1	2	3	1.991067	Q0P6D6	CCD15_HUMAN		5	793	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	0	1	hg19	c.534A>C	CCDS44756.1	1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257472	0.59321	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.43294	0.96;0.95	5.49	-0.499	0.12015	5.49	-0.499	0.12015	.	0.146210	0.44097	D	0.000494	T	0.56337	0.1978	M	0.71581	2.175	0.23855	N	0.996653	D	0.76494	0.999	D	0.79784	0.993	T	0.48811	-0.9002	10	0.72032	D	0.01	-11.9158	8.8787	0.35360	0.5446:0.0:0.4554:0.0	.	178	Q0P6D6	CCD15_HUMAN	N	178	ENSP00000435403:K178N;ENSP00000341684:K178N	ENSP00000341684:K178N	K	+	3	2	2	CCDC15	124350219	124350219	0.993000	0.37304	0.993000	0.49108	0.690000	0.40134	0.110000	0.15437	-0.008000	0.14320	0.528000	0.53228	AAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-10.250010	1	0.170000	NM_025004			14	14		75	75	1		1	1		0	0	14	0		9.998388e-01	3.251053e-01	0	3	0	4	0	14	75
CCDC15	80071	broad.mit.edu	37	11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000344762.5	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000529051.1_Missense_Mutation_p.R452K	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	452						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408																																						ENST00000344762.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1354-1356)aGa>aAa		coiled-coil domain containing 15							104.0	100.0	101.0					11																	124857477		1853	4094	5947	SO:0001583	missense	80071	0	0					g.chr11:124857477G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1355G>A	chr11.hg19:g.124857477G>A	ENSP00000341684:p.Arg452Lys	0					CCDC15_ENST00000529051.1_Missense_Mutation_p.R452K	p.R452K	NM_025004.2	NP_079280.2	1	2	3	1.991067	Q0P6D6	CCD15_HUMAN		8	1614	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	1	1	hg19	c.1355G>A	CCDS44756.1	1	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807992	0.02819	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29917	1.59;1.55	3.4	-5.98	0.02220	3.4	-5.98	0.02220	.	1.037760	0.07723	N	0.943966	T	0.10852	0.0265	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.35325	-0.9793	10	0.02654	T	1	-0.0822	1.9469	0.03358	0.1979:0.288:0.3713:0.1428	.	452	Q0P6D6	CCD15_HUMAN	K	452	ENSP00000435403:R452K;ENSP00000341684:R452K	ENSP00000341684:R452K	R	+	2	0	0	CCDC15	124362687	124362687	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.489000	0.02306	-1.056000	0.03205	0.563000	0.77884	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-20.000000	1	0.170000	NM_025004			74	72		442	431	1		1	0		0	0	141	0		1	1.035061e-01	0	0	0	4	0	74	442
CCDC15	80071	broad.mit.edu	37	11	124875078	124875078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124875078G>T	ENST00000344762.5	+	13	2640	c.2381G>T	c.(2380-2382)aGg>aTg	p.R794M	CCDC15_ENST00000529051.1_Missense_Mutation_p.R794M	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	794						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAACAACAAAGGCAAAAAGAA	0.323																																						ENST00000344762.5	1.000000	0.300000	1	5.800000e-01	0.990000	0.843390	0.990000	1.000000																										0				23						c.(2380-2382)aGg>aTg		coiled-coil domain containing 15							42.0	36.0	38.0					11																	124875078		1820	4075	5895	SO:0001583	missense	80071	0	0					g.chr11:124875078G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2381G>T	chr11.hg19:g.124875078G>T	ENSP00000341684:p.Arg794Met	0					CCDC15_ENST00000529051.1_Missense_Mutation_p.R794M	p.R794M	NM_025004.2	NP_079280.2	1	2	3	1.991067	Q0P6D6	CCD15_HUMAN		13	2640	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	0	1	hg19	c.2381G>T	CCDS44756.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224578	0.79576	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.51817	0.77;0.69	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.203936	0.25302	N	0.031658	T	0.67924	0.2945	M	0.64404	1.975	0.34015	D	0.651963	D	0.89917	1.0	D	0.91635	0.999	T	0.76088	-0.3087	10	0.87932	D	0	-7.2111	18.3628	0.90380	0.0:0.0:1.0:0.0	.	794	Q0P6D6	CCD15_HUMAN	M	794	ENSP00000435403:R794M;ENSP00000341684:R794M	ENSP00000341684:R794M	R	+	2	0	0	CCDC15	124380288	124380288	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.052000	0.57420	2.689000	0.91719	0.655000	0.94253	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-7.892837	1	0.170000	NM_025004			3	3		34	33	0		1	1		0	0	14	0		8.038781e-01	1.662456e-01	0	2	0	5	0	3	34
SLC37A2	219855	broad.mit.edu	37	11	124951718	124951718	+	Silent	SNP	C	C	T	rs181024684	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000407458.1_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000298280.5_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	267					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			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)		TCAGGGAGAGCGGCCTTGAGA	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18260	0.0		0.001	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	ENST00000403796.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				27						c.(799-801)agC>agT		solute carrier family 37 (glucose-6-phosphate transporter), member 2							68.0	65.0	66.0					11																	124951718		2201	4299	6500	SO:0001819	synonymous_variant	219855	8	121412	40				g.chr11:124951718C>T	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.801C>T	chr11.hg19:g.124951718C>T		0					SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	p.S267S	NM_001145290.1	NP_001138762.1	1	2	3	1.991067	Q8TED4	SPX2_HUMAN		9	1102	+	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)	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	1	1	hg19	c.801C>T	CCDS44757.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	0	0	1		15	4	2	1		1	1	61		61	61	1	2.060000	-20.000000	1	0.170000	XM_166184			42	42		234	231	1		1	0		1	0	61	0		9.999580e-01	7.771128e-01	0	0	0	34	0	42	234
MUC5B	727897	broad.mit.edu	37	11	1251032	1251032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000529681.1	+	10	1273	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_ENST00000447027.1_Silent_p.S408S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	405					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTGCAGCTCCTGGTACT	0.667																																						ENST00000529681.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994449	0.990000	1.000000																										0				137						c.(1213-1215)agC>agT		mucin 5B, oligomeric mucus/gel-forming							19.0	22.0	21.0					11																	1251032		2091	4194	6285	SO:0001819	synonymous_variant	727897	4	120146	29				g.chr11:1251032C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1215C>T	chr11.hg19:g.1251032C>T		0					MUC5B_ENST00000447027.1_Silent_p.S408S	p.S405S	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		10	1273	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	0	1	hg19	c.1215C>T	CCDS44515.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.966080	1	0.170000	XM_001126093			10	9		55	54	1		1			0	0	13	0		9.972251e-01	0	0	0	0	0	0	10	55
MUC5B	727897	broad.mit.edu	37	11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A	rs371537386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000529681.1	+	12	1466	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	470	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGAAGTGCGGCCTGACGGA	0.657																																						ENST00000529681.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995647	0.990000	1.000000																										0				137						c.(1408-1410)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming		G	SER/GLY	1,4257		0,1,2128	44.0	53.0	50.0		1408	4.1	0.0	11		50	0,8464		0,0,4232	no	missense	MUC5B	NM_002458.2	56	0,1,6360	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging	470/5763	1251768	1,12721	2129	4232	6361	SO:0001583	missense	727897	3	120852	31				g.chr11:1251768G>A	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.1408G>A	chr11.hg19:g.1251768G>A	ENSP00000436812:p.Gly470Ser	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	p.G470S	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		12	1466	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.1408G>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433412	0.25813	2.35E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	4.13	4.13	0.48395	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.73241	0.3562	M	0.83953	2.67	0.40202	D	0.977524	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.831;0.925;0.946	T	0.80484	-0.1362	9	0.87932	D	0	.	15.9972	0.80260	0.0:0.0:1.0:0.0	.	470;1129;473	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	470;473;471;506	ENSP00000436812:G470S;ENSP00000415793:G473S	ENSP00000343037:G471S	G	+	1	0	0	MUC5B	1208344	1208344	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	6.924000	0.75823	1.851000	0.53745	0.305000	0.20034	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999930	1	0.170000	XM_001126093			15	15		97	96	1		1			0	0	25	0		9.999047e-01	0	0	0	0	0	0	15	97
TMEM218	219854	broad.mit.edu	37	11	124972114	124972114	+	Silent	SNP	G	G	A	rs7114520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124972114G>A	ENST00000279968.4	-	3	347	c.24C>T	c.(22-24)gtC>gtT	p.V8V	TMEM218_ENST00000528724.1_Silent_p.V8V|TMEM218_ENST00000529583.1_Silent_p.V8V|TMEM218_ENST00000527271.1_Silent_p.V8V|TMEM218_ENST00000526175.1_Silent_p.V8V|TMEM218_ENST00000532407.1_Silent_p.V8V|TMEM218_ENST00000455225.1_Silent_p.V8V|TMEM218_ENST00000531909.1_Silent_p.V8V|TMEM218_ENST00000529609.1_Silent_p.V8V|TMEM218_ENST00000527766.1_Silent_p.V8V|TMEM218_ENST00000532156.1_Silent_p.V8V|TMEM218_ENST00000531262.1_Intron			A2RU14	TM218_HUMAN	transmembrane protein 218	8						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCCCGCACCGACTCCGAGCA	0.682													G|||	294	0.0587061	0.1861	0.0115	5008	,	,		12552	0.001		0.008	False		,,,				2504	0.0317					ENST00000279968.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(22-24)gtC>gtT		transmembrane protein 218		G		735,3661	293.8+/-282.8	52,631,1515	42.0	43.0	43.0		24	0.9	1.0	11	dbSNP_116	43	70,8520	41.7+/-99.0	0,70,4225	no	coding-synonymous	TMEM218	NM_001080546.1		52,701,5740	AA,AG,GG		0.8149,16.7197,6.199		8/116	124972114	805,12181	2198	4295	6493	SO:0001819	synonymous_variant	219854	2953	121326	63				g.chr11:124972114G>A		CCDS31715.1	11q24.2	2008-08-08			ENSG00000150433	ENSG00000150433			27344	protein-coding gene	gene with protein product							Standard	NM_001258238		Approved		uc031qeu.1	A2RU14		ENST00000279968.4:c.24C>T	chr11.hg19:g.124972114G>A		0					TMEM218_ENST00000531262.1_Intron|TMEM218_ENST00000455225.1_Silent_p.V8V|TMEM218_ENST00000527766.1_Silent_p.V8V|TMEM218_ENST00000528724.1_Silent_p.V8V|TMEM218_ENST00000531909.1_Silent_p.V8V|TMEM218_ENST00000526175.1_Silent_p.V8V|TMEM218_ENST00000529609.1_Silent_p.V8V|TMEM218_ENST00000532156.1_Silent_p.V8V|TMEM218_ENST00000527271.1_Silent_p.V8V|TMEM218_ENST00000529583.1_Silent_p.V8V|TMEM218_ENST00000532407.1_Silent_p.V8V	p.V8V			1	2	3	1.991067	A2RU14	TM218_HUMAN		3	347	-			B7ZM48	Silent	SNP	ENST00000279968.4	1	0	hg19	c.24C>T	CCDS31715.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386849.1	0	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-1.922891	0	0.170000	NM_001080546			38	38		171	171	1		1	1		0	0	36	0		1	9.833004e-01	0	10	0	22	0	38	171
MUC5B	727897	broad.mit.edu	37	11	1252652	1252652	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000529681.1	+	14	1598		c.e14-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCGGCAGCCAACATCAC	0.647																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				137						c.e14-1		mucin 5B, oligomeric mucus/gel-forming							31.0	35.0	34.0					11																	1252652		2044	4201	6245	SO:0001630	splice_region_variant	727897	0	0					g.chr11:1252652G>A	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.1541-1G>A	chr11.hg19:g.1252652G>A		0					MUC5B_ENST00000447027.1_Splice_Site		NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		14	1598	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	ENST00000529681.1	1	1	hg19		CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673878	0.29693	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	3.73	0.42828	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MUC5B	1209228	1209228	1.000000	0.71417	0.882000	0.34594	0.119000	0.20118	8.723000	0.91458	1.614000	0.50241	0.462000	0.41574	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	XM_001126093	Intron		25	25		92	88	1		1			0	0	28	0		9.999999e-01	0	0	0	0	0	0	25	92
PKNOX2	63876	broad.mit.edu	37	11	125255507	125255507	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125255507C>A	ENST00000298282.9	+	6	559	c.288C>A	c.(286-288)ggC>ggA	p.G96G	PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	96					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCACCCAGGGCTCTGAGTGCA	0.552																																						ENST00000298282.9	1.000000	0.290000	6.100000e-01	3.700000e-01	0.480000	0.507817	0.480000	0.470000																										0				29						c.(286-288)ggC>ggA		PBX/knotted 1 homeobox 2							122.0	124.0	124.0					11																	125255507		2080	4228	6308	SO:0001819	synonymous_variant	63876	0	0					g.chr11:125255507C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.288C>A	chr11.hg19:g.125255507C>A		0					PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	p.G96G	NM_022062.2	NP_071345.2	1	2	3	1.991067	Q96KN3	PKNX2_HUMAN		6	559	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	1	1	hg19	c.288C>A	CCDS41730.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-18.180240	1	0.170000				19	19		458	445	0		1	0		0	0	95	0		9.999884e-01	1.026238e-02	0	0	0	4	0	19	458
PKNOX2	63876	broad.mit.edu	37	11	125267823	125267823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	151					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522																																						ENST00000298282.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(451-453)gtC>gtT		PBX/knotted 1 homeobox 2							112.0	120.0	117.0					11																	125267823		1984	4186	6170	SO:0001819	synonymous_variant	63876	0	0					g.chr11:125267823C>T	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.453C>T	chr11.hg19:g.125267823C>T		0					PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	p.V151V	NM_022062.2	NP_071345.2	1	2	3	1.991067	Q96KN3	PKNX2_HUMAN		7	724	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	1	1	hg19	c.453C>T	CCDS41730.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				93	93		361	347	1		1	0		0	0	103	0		1	2.757330e-01	0	0	0	5	0	93	361
MUC5B	727897	broad.mit.edu	37	11	1254494	1254494	+	Missense_Mutation	SNP	G	G	A	rs375763678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	ENST00000529681.1	+	18	2375	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V776M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	773					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGGGCGCCGTGTGGTAAGG	0.697																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999857	0.990000	1.000000																										0				137						c.(2317-2319)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							6.0	8.0	7.0					11																	1254494		1872	4057	5929	SO:0001583	missense	727897	3	116930	26				g.chr11:1254494G>A	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.2317G>A	chr11.hg19:g.1254494G>A	ENSP00000436812:p.Val773Met	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.V776M	p.V773M	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		18	2375	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	0	1	hg19	c.2317G>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197696	0.22037	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22539	1.95;1.95	4.99	-1.4	0.08968	4.99	-1.4	0.08968	.	.	.	.	.	T	0.14313	0.0346	L	0.39397	1.21	0.09310	N	1	P;D;D	0.54047	0.487;0.964;0.964	B;B;B	0.39660	0.015;0.306;0.306	T	0.19745	-1.0296	9	0.87932	D	0	.	6.3433	0.21335	0.427:0.1201:0.4529:0.0	.	773;1432;776	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	773;776;774;809	ENSP00000436812:V773M;ENSP00000415793:V776M	ENSP00000343037:V774M	V	+	1	0	0	MUC5B	1211070	1211070	0.036000	0.19791	0.059000	0.19551	0.001000	0.01503	0.405000	0.21015	-0.063000	0.13065	-0.373000	0.07131	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	XM_001126093			13	13		39	36	0		1	0		0	0	9	0		9.996444e-01	0	0	0	0	1	0	13	39
EI24	9538	broad.mit.edu	37	11	125445239	125445239	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	ENST00000278903.6	+	3	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.R41R|RNU6-1156P_ENST00000410365.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	41	Poly-Arg.				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)				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)		AGGAGCAGCGTCGAAGAAGGG	0.463																																						ENST00000278903.6	1.000000	0.880000	1	9.900000e-01	0.990000	0.992844	0.990000	1.000000																										0				11						c.(121-123)cgT>cgC		etoposide induced 2.4							68.0	70.0	69.0					11																	125445239		2016	4189	6205	SO:0001819	synonymous_variant	9538	0	0					g.chr11:125445239T>C	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.123T>C	chr11.hg19:g.125445239T>C		0					EI24_ENST00000530985.1_3'UTR|RNU6-1156P_ENST00000410365.1_RNA|EI24_ENST00000343678.4_Silent_p.R41R|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	p.R41R	NM_004879.3	NP_004870.3	1	2	3	1.991067	O14681	EI24_HUMAN		3	365	+	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)	A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	0	1	hg19	c.123T>C		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-7.977784	1	0.170000	NM_004879			7	5		31	28	0		1	1		0	0	10	0		9.736562e-01	1	0	148	0	256	0	7	31
EI24	9538	broad.mit.edu	37	11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000278903.6	+	9	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	236					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)				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)		GTCTAACATAGAAAGGAATTG	0.368																																						ENST00000278903.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999263	0.990000	1.000000																										0				11						c.(706-708)Gaa>Taa		etoposide induced 2.4							96.0	93.0	94.0					11																	125451139		1826	4091	5917	SO:0001587	stop_gained	9538	0	0					g.chr11:125451139G>T	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.706G>T	chr11.hg19:g.125451139G>T	ENSP00000278903:p.Glu236*	0					EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	p.E236*	NM_004879.3	NP_004870.3	1	2	3	1.991067	O14681	EI24_HUMAN		9	948	+	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)	A8K7D6|B4DKL6|Q9BUQ1	Nonsense_Mutation	SNP	ENST00000278903.6	0	1	hg19	c.706G>T		1	.	.	.	.	.	.	.	.	.	.	G	39	7.653943	0.98412	.	.	ENSG00000149547	ENST00000278903	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.091308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000278903:E236X	E	+	1	0	0	EI24	124956349	124956349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.826000	0.97356	0.655000	0.94253	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.323181	1	0.170000	NM_004879			26	26		168	164	1		1	1		0	0	28	0		9.999999e-01	1	0	68	0	350	0	26	168
MUC5B	727897	broad.mit.edu	37	11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A	rs554418515	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000529681.1	+	20	2462	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	802					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTACCTGGACTGCAGCAA	0.687																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999471	0.990000	1.000000																										0				137						c.(2404-2406)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							16.0	18.0	17.0					11																	1255461		1972	4134	6106	SO:0001583	missense	727897	0	0					g.chr11:1255461G>A	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.2404G>A	chr11.hg19:g.1255461G>A	ENSP00000436812:p.Asp802Asn	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	p.D802N	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		20	2462	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.2404G>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282631	0.23392	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.35	4.21	3.28	0.37604	4.21	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.18882	0.0453	L	0.37507	1.11	0.31973	N	0.606944	B;P;P	0.42357	0.077;0.777;0.777	B;B;B	0.42738	0.136;0.396;0.396	T	0.09079	-1.0691	9	0.87932	D	0	.	15.1372	0.72576	0.0779:0.0:0.9221:0.0	.	802;1461;805	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	802;805;803;838	ENSP00000436812:D802N;ENSP00000415793:D805N	ENSP00000343037:D803N	D	+	1	0	0	MUC5B	1212037	1212037	0.995000	0.38212	0.873000	0.34254	0.350000	0.29205	2.155000	0.42301	0.431000	0.26258	-1.634000	0.00779	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999960	1	0.170000	XM_001126093			13	12		53	51	1		1	0		0	0	15	0		9.996149e-01	1.138107e-01	0	1	0	2	0	13	53
ACRV1	56	broad.mit.edu	37	11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	253					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443																																						ENST00000533904.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(757-759)aTt>aGt		acrosomal vesicle protein 1							183.0	161.0	168.0					11																	125542528		2201	4299	6500	SO:0001583	missense	56	0	0					g.chr11:125542528A>C	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.758T>G	chr11.hg19:g.125542528A>C	ENSP00000432816:p.Ile253Ser	0					ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S	p.I253S			1	2	3	1.991067	P26436	ASPX_HUMAN		4	1100	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	1	1	hg19	c.758T>G	CCDS8460.1	1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642964	0.67244	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	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	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.109289	0.40222	N	0.001156	T	0.43590	0.1254	M	0.64404	1.975	0.37751	D	0.925961	P;D;D;P;D;D;D;D;D	0.89917	0.929;0.999;1.0;0.95;1.0;0.976;0.98;0.984;0.959	P;D;D;P;D;P;P;P;P	0.69824	0.762;0.95;0.966;0.625;0.966;0.707;0.81;0.791;0.583	T	0.45041	-0.9288	10	0.48119	T	0.1	-3.8873	10.0696	0.42325	1.0:0.0:0.0:0.0	.	253;234;143;69;158;198;109;183;164	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	S	253;234;198;183;164;158;153;143;109;69;234;198;183	ENSP00000432816:I253S;ENSP00000407846:I234S;ENSP00000257382:I198S;ENSP00000411583:I183S;ENSP00000397448:I164S;ENSP00000412653:I158S;ENSP00000257385:I153S;ENSP00000257383:I143S;ENSP00000395453:I109S;ENSP00000257386:I69S;ENSP00000317684:I234S;ENSP00000433720:I198S;ENSP00000436819:I183S	ENSP00000257382:I198S	I	-	2	0	0	ACRV1	125047738	125047738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.646000	0.54396	2.151000	0.67156	0.523000	0.50628	ATT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_001612			105	103		495	489	1		1			0	0	94	0		1	0	0	0	0	0	0	105	495
MUC5B	727897	broad.mit.edu	37	11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000529681.1	+	20	2466	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	803					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACCTGGACTGCAGCAACAGC	0.692																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999421	0.990000	1.000000																										0				137						c.(2407-2409)tGc>tTc		mucin 5B, oligomeric mucus/gel-forming							16.0	18.0	17.0					11																	1255465		1972	4137	6109	SO:0001583	missense	727897	0	0					g.chr11:1255465G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2408G>T	chr11.hg19:g.1255465G>T	ENSP00000436812:p.Cys803Phe	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	p.C803F	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		20	2466	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.2408G>T	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	g	11.87	1.768045	0.31320	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.98264	-4.83;-4.83	4.21	4.21	0.49690	4.21	4.21	0.49690	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	D	0.99351	0.9772	H	0.97540	4.025	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.98376	1.0556	9	0.87932	D	0	.	16.7386	0.85454	0.0:0.0:1.0:0.0	.	803;1462;806	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	F	803;806;804;839	ENSP00000436812:C803F;ENSP00000415793:C806F	ENSP00000343037:C804F	C	+	2	0	0	MUC5B	1212041	1212041	1.000000	0.71417	0.927000	0.36925	0.356000	0.29392	6.844000	0.75390	2.180000	0.69256	0.457000	0.33378	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999960	1	0.170000	XM_001126093			13	12		54	52	1		1	0		0	0	14	0		9.996133e-01	1.108389e-01	0	1	0	2	0	13	54
ACRV1	56	broad.mit.edu	37	11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	212					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398																																						ENST00000533904.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(634-636)caG>caT		acrosomal vesicle protein 1							147.0	143.0	144.0					11																	125546291		2201	4299	6500	SO:0001583	missense	56	0	0					g.chr11:125546291C>A	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.636G>T	chr11.hg19:g.125546291C>A	ENSP00000432816:p.Gln212His	0					ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H	p.Q212H			1	2	3	1.991067	P26436	ASPX_HUMAN		3	978	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	1	1	hg19	c.636G>T	CCDS8460.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598244	0.66332	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.69	2.76	0.32466	4.69	2.76	0.32466	.	0.178796	0.27415	N	0.019476	T	0.42787	0.1218	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.984;0.967;0.996;0.985;0.974;0.998;0.996	P;P;D;P;P;D;D	0.66847	0.851;0.748;0.921;0.864;0.641;0.947;0.94	T	0.26608	-1.0098	10	0.59425	D	0.04	-0.0754	5.1993	0.15254	0.2036:0.6892:0.0:0.1072	.	212;193;117;157;68;142;123	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	H	212;193;157;142;123;117;112;68;193;157;142	ENSP00000432816:Q212H;ENSP00000407846:Q193H;ENSP00000257382:Q157H;ENSP00000411583:Q142H;ENSP00000397448:Q123H;ENSP00000412653:Q117H;ENSP00000257385:Q112H;ENSP00000395453:Q68H;ENSP00000317684:Q193H;ENSP00000433720:Q157H;ENSP00000436819:Q142H	ENSP00000257382:Q157H	Q	-	3	2	2	ACRV1	125051501	125051501	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	0.660000	0.30964	0.655000	0.94253	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_001612			106	105		432	424	1		1			0	0	101	0		1	0	0	0	0	0	0	106	432
PUS3	83480	broad.mit.edu	37	11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000530811.1	-	2	936	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	297					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			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)		CATCAATAATCTCTGGCTTCT	0.403																																						ENST00000530811.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(889-891)gaG>gaT		pseudouridylate synthase 3							94.0	97.0	96.0					11																	125765172		2201	4299	6500	SO:0001583	missense	83480	0	0					g.chr11:125765172C>A	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.891G>T	chr11.hg19:g.125765172C>A	ENSP00000432386:p.Glu297Asp	0					HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron	p.E297D			1	2	3	1.991067	Q9BZE2	PUS3_HUMAN		2	936	-	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)	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	1	1	hg19	c.891G>T	CCDS8466.1	1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811514	0.32053	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55930	0.49;0.49	5.73	-1.31	0.09230	5.73	-1.31	0.09230	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.143577	0.64402	N	0.000008	T	0.29976	0.0750	L	0.35341	1.055	0.40461	D	0.980245	B	0.12630	0.006	B	0.15052	0.012	T	0.04115	-1.0976	10	0.31617	T	0.26	-5.9672	0.7425	0.00976	0.2463:0.32:0.1106:0.3231	.	297	Q9BZE2	PUS3_HUMAN	D	297	ENSP00000227474:E297D;ENSP00000432386:E297D	ENSP00000227474:E297D	E	-	3	2	2	PUS3	125270382	125270382	0.020000	0.18652	0.517000	0.27799	0.997000	0.91878	-0.097000	0.11042	-0.252000	0.09528	0.591000	0.81541	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_031307			91	88		397	376	1		1	1		0	0	82	0		1	9.998902e-01	0	14	0	46	0	91	397
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000529681.1	+	25	3149	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1031	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0				137						c.(3091-3093)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							29.0	38.0	35.0					11																	1258188		2133	4228	6361	SO:0001583	missense	727897	0	0					g.chr11:1258188G>A	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.3091G>A	chr11.hg19:g.1258188G>A	ENSP00000436812:p.Asp1031Asn	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	p.D1031N	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		25	3149	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.3091G>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.57595	0.39;0.39	4.38	3.47	0.39725	4.38	3.47	0.39725	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.42988	0.1227	L	0.41710	1.295	0.32694	N	0.513784	P;B;P	0.46142	0.873;0.26;0.5	B;B;B	0.38296	0.27;0.057;0.155	T	0.57734	-0.7760	9	0.87932	D	0	.	12.4879	0.55883	0.0825:0.0:0.9175:0.0	.	1031;1724;1034	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	1031;1034;1032;1101	ENSP00000436812:D1031N;ENSP00000415793:D1034N	ENSP00000343037:D1032N	D	+	1	0	0	MUC5B	1214764	1214764	1.000000	0.71417	0.805000	0.32314	0.093000	0.18481	4.749000	0.62155	0.834000	0.34852	-0.368000	0.07277	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	XM_001126093			17	17		69	65	1		1	0		0	0	15	0		9.999732e-01	4.366701e-02	0	0	0	2	0	17	69
DDX25	29118	broad.mit.edu	37	11	125788671	125788671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	ENST00000263576.6	+	10	1342	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		ATAACAACTAATGTTTGTGCC	0.448																																						ENST00000263576.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				10						c.(1186-1188)aAt>aCt		DEAD (Asp-Glu-Ala-Asp) box helicase 25							108.0	104.0	105.0					11																	125788671		1919	4137	6056	SO:0001583	missense	29118	0	0					g.chr11:125788671A>C	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.1187A>C	chr11.hg19:g.125788671A>C	ENSP00000263576:p.Asn396Thr	0					DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	p.N396T	NM_013264.4	NP_037396.3	1	2	3	1.991067	Q9UHL0	DDX25_HUMAN		10	1342	+	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)	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	0	1	hg19	c.1187A>C	CCDS44766.1	1	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925599	0.18056	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04758	3.56	5.36	5.36	0.76844	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.144864	0.48767	D	0.000163	T	0.21022	0.0506	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00293	-1.1841	10	0.87932	D	0	-12.2522	14.344	0.66646	1.0:0.0:0.0:0.0	.	396;396	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	282;396;262	ENSP00000263576:N396T	ENSP00000263576:N396T	N	+	2	0	0	DDX25	125293881	125293881	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	8.870000	0.92336	2.047000	0.60756	0.459000	0.35465	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_013264			16	15		52	50	0		1	0		0	0	10	0		9.999559e-01	0	0	1	0	0	0	16	52
CDON	50937	broad.mit.edu	37	11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000531738.1_Missense_Mutation_p.R304C|CDON_ENST00000263577.7_Missense_Mutation_p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	927					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)				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)		CCAGGAACACGTTTCACTAGT	0.453																																						ENST00000392693.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2779-2781)Cgt>Tgt		cell adhesion associated, oncogene regulated							38.0	39.0	38.0					11																	125853983		2201	4299	6500	SO:0001583	missense	50937	1	121412	26				g.chr11:125853983G>A	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.2779C>T	chr11.hg19:g.125853983G>A	ENSP00000376458:p.Arg927Cys	0					CDON_ENST00000531738.1_Missense_Mutation_p.R304C|CDON_ENST00000263577.7_Missense_Mutation_p.R927C	p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	1	2	3	1.991067	Q4KMG0	CDON_HUMAN		16	2906	-	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)	O14631	Missense_Mutation	SNP	ENST00000392693.3	1	1	hg19	c.2779C>T	CCDS58192.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948655	0.73787	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70282	-0.46;0.22;-0.47	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000125	D	0.83078	0.5176	M	0.70595	2.14	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.943	D	0.84068	0.0378	10	0.72032	D	0.01	-22.7941	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	927;927;304	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	927;304;927	ENSP00000376458:R927C;ENSP00000432901:R304C;ENSP00000263577:R927C	ENSP00000263577:R927C	R	-	1	0	0	CDON	125359193	125359193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.783000	0.95769	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_016952			36	35		155	152	1		1	0		0	0	49	0		1	5.341747e-01	0	1	0	8	0	36	155
RPUSD4	84881	broad.mit.edu	37	11	126079531	126079531	+	Silent	SNP	G	G	A	rs577525831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RPUSD4_ENST00000533628.1_Silent_p.L148L|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000533050.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	148					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522																																						ENST00000298317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(442-444)Ctg>Ttg		RNA pseudouridylate synthase domain containing 4							237.0	220.0	226.0					11																	126079531		2201	4299	6500	SO:0001819	synonymous_variant	84881	0	0					g.chr11:126079531G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.442C>T	chr11.hg19:g.126079531G>A		0					FAM118B_ENST00000533050.1_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L148L|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	p.L148L	NM_032795.2	NP_116184.2	1	2	3	1.991067	Q96CM3	RUSD4_HUMAN		3	495	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	1	1	hg19	c.442C>T	CCDS8469.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	1	0	1		2	2	2	0		0	0	272		272	267	1	2.060000	-20.000000	1	0.170000	NM_032795			202	195		1016	995	0		1	1		0	0	272	0		1	9.999802e-01	0	24	0	53	0	202	1016
SRPR	6734	broad.mit.edu	37	11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	rs149620514	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000332118.6	-	14	1988	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	612					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20870	0.001		0.0	False		,,,				2504	0.0					ENST00000332118.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1834-1836)Gtc>Atc		signal recognition particle receptor (docking protein)							147.0	133.0	138.0					11																	126133894		2201	4299	6500	SO:0001583	missense	6734	4	121412	36				g.chr11:126133894C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1834G>A	chr11.hg19:g.126133894C>T	ENSP00000328023:p.Val612Ile	0					SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	p.V612I	NM_003139.3	NP_003130.2	1	2	3	1.991067	P08240	SRPR_HUMAN		14	1988	-	all_hematologic(175;0.145)		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	1	1	hg19	c.1834G>A	CCDS31717.1	1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	26.2	4.712081	0.89112	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	Signal recognition particle, SRP54 subunit, GTPase (3);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.41124	1.26	0.80722	D	1	D;P	0.56521	0.976;0.951	P;P	0.51453	0.67;0.67	T	0.59600	-0.7424	9	0.38643	T	0.18	-17.3446	18.2376	0.89954	0.0:1.0:0.0:0.0	.	584;612	E9PJS4;P08240	.;SRPR_HUMAN	I	612;584	.	ENSP00000328023:V612I	V	-	1	0	0	SRPR	125639104	125639104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.535000	0.85469	0.591000	0.81541	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_003139			99	98		398	386	1		1	1		0	0	95	0		1	1	0	153	0	545	0	99	398
MUC5B	727897	broad.mit.edu	37	11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000529681.1	+	31	4095	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1346	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTACAATGGGCACCGCCCA	0.652																																						ENST00000529681.1	1.000000	0.680000	1	8.700000e-01	0.990000	0.954463	0.990000	1.000000																										0				137						c.(4036-4038)gGg>gTg		mucin 5B, oligomeric mucus/gel-forming							25.0	29.0	28.0					11																	1262147		1979	4156	6135	SO:0001583	missense	727897	0	0					g.chr11:1262147G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4037G>T	chr11.hg19:g.1262147G>T	ENSP00000436812:p.Gly1346Val	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V|RP11-532E4.2_ENST00000532061.2_RNA	p.G1346V	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	4095	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.4037G>T	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616679	0.14129	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	3.62	0.494	0.16884	3.62	0.494	0.16884	.	.	.	.	.	T	0.07007	0.0178	N	0.04090	-0.28	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.30251	0.103;0.113	T	0.32268	-0.9913	9	0.87932	D	0	.	3.0683	0.06221	0.09:0.1427:0.3309:0.4364	.	2039;1349	A7Y9J9;E9PBJ0	.;.	V	1346;1349;1347;1416	ENSP00000436812:G1346V;ENSP00000415793:G1349V	ENSP00000343037:G1347V	G	+	2	0	0	MUC5B	1218723	1218723	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.920000	0.01571	-0.086000	0.12550	0.313000	0.20887	GGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	XM_001126093			19	19		188	184	0		1	0		0	0	37	0		9.999914e-01	2.646875e-02	0	0	0	3	0	19	188
DCPS	28960	broad.mit.edu	37	11	126213270	126213270	+	Silent	SNP	G	G	A	rs577236215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126213270G>A	ENST00000263579.4	+	5	1034	c.705G>A	c.(703-705)ccG>ccA	p.P235P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	235					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ACCTTACTCCGGAGCACTTGC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19452	0.0		0.0	False		,,,				2504	0.0					ENST00000263579.4	1.000000	0.200000	7.100000e-01	3.100000e-01	0.480000	0.516352	0.480000	0.440000																										0				17						c.(703-705)ccG>ccA		decapping enzyme, scavenger							72.0	54.0	60.0					11																	126213270		2201	4298	6499	SO:0001819	synonymous_variant	28960	2	121412	27				g.chr11:126213270G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.705G>A	chr11.hg19:g.126213270G>A		0					DCPS_ENST00000530860.1_3'UTR	p.P235P	NM_014026.3	NP_054745.1	1	2	3	1.991067	Q96C86	DCPS_HUMAN		5	1034	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	Q8NHL8|Q9Y2S5	Silent	SNP	ENST00000263579.4	0	1	hg19	c.705G>A	CCDS8473.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	0	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-3.322393	1	0.170000	NM_014026			6	6		153	146	0		1	1		0	0	28	0		9.607799e-01	9.708231e-01	0	12	0	155	0	6	153
DCPS	28960	broad.mit.edu	37	11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	rs527294427|rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	282					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632																																						ENST00000263579.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(844-846)Gcc>Acc		decapping enzyme, scavenger							158.0	112.0	127.0					11																	126215338		2201	4298	6499	SO:0001583	missense	28960	5	121410	40				g.chr11:126215338G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.844G>A	chr11.hg19:g.126215338G>A	ENSP00000263579:p.Ala282Thr	0					DCPS_ENST00000530860.1_3'UTR	p.A282T	NM_014026.3	NP_054745.1	1	2	3	1.991067	Q96C86	DCPS_HUMAN		6	1173	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	1	1	hg19	c.844G>A	CCDS8473.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637183	0.67130	.	.	ENSG00000110063	ENST00000263579	D	0.95821	-3.82	5.16	5.16	0.70880	5.16	5.16	0.70880	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.367893	0.30969	N	0.008519	D	0.95201	0.8444	L	0.43152	1.355	0.43122	D	0.994846	D	0.64830	0.994	P	0.53954	0.738	D	0.93806	0.7105	10	0.23302	T	0.38	-15.2573	18.7289	0.91726	0.0:0.0:1.0:0.0	.	282	Q96C86	DCPS_HUMAN	T	282	ENSP00000263579:A282T	ENSP00000263579:A282T	A	+	1	0	0	DCPS	125720548	125720548	0.997000	0.39634	0.997000	0.53966	0.787000	0.44495	4.946000	0.63576	2.421000	0.82119	0.555000	0.69702	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_014026			121	119		558	549	1		1	1		0	0	119	0		1	1	0	40	0	88	0	121	558
ST3GAL4	6484	broad.mit.edu	37	11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	130					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCACCGGCTGCGGAACAGCTC	0.577																																						ENST00000526727.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(388-390)Cgg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							145.0	143.0	143.0					11																	126278040		2201	4298	6499	SO:0001583	missense	6484	1	121410	26				g.chr11:126278040C>T	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.388C>T	chr11.hg19:g.126278040C>T	ENSP00000436047:p.Arg130Trp	0					ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W	p.R130W			1	2	3	1.991067	Q11206	SIA4C_HUMAN		6	762	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	1	1	hg19	c.388C>T	CCDS58193.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812726	0.50527	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.19	3.17	0.36434	5.19	3.17	0.36434	.	.	.	.	.	T	0.50171	0.1600	M	0.64404	1.975	0.28631	N	0.90763	D;D	0.64830	0.994;0.994	D;D	0.65233	0.933;0.933	T	0.46803	-0.9165	9	0.72032	D	0.01	.	13.6837	0.62502	0.3868:0.6132:0.0:0.0	.	126;130	Q6IBE6;Q11206	.;SIA4C_HUMAN	W	126;130;136;126;130;130;130;130;119;129;125	ENSP00000227495:R126W;ENSP00000394354:R130W;ENSP00000348451:R136W;ENSP00000433989:R126W;ENSP00000433318:R130W;ENSP00000432424:R130W;ENSP00000376437:R130W;ENSP00000436047:R130W;ENSP00000399444:R119W;ENSP00000434349:R129W;ENSP00000434668:R125W	ENSP00000227495:R126W	R	+	1	2	2	ST3GAL4	125783250	125783250	0.964000	0.33143	0.510000	0.27712	0.212000	0.24457	2.227000	0.42972	1.287000	0.44583	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-2.958013	1	0.170000	NM_006278			59	57		289	286	1		1	1		0	0	53	0		1	1	0	18	0	197	0	59	289
ST3GAL4	6484	broad.mit.edu	37	11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	320					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCATTAAGCGGATGCTGGAG	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		19414	0.0		0.002	False		,,,				2504	0.001					ENST00000526727.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				9						c.(958-960)cGg>cAg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	122.0	112.0	115.0		947	5.6	1.0	11	dbSNP_134	115	18,8576	13.3+/-46.6	0,18,4279	yes	missense	ST3GAL4	NM_006278.1	43	0,19,6479	AA,AG,GG		0.2094,0.0227,0.1462	probably-damaging	316/330	126283899	19,12977	2201	4297	6498	SO:0001583	missense	6484	142	121412	53				g.chr11:126283899G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.959G>A	chr11.hg19:g.126283899G>A	ENSP00000436047:p.Arg320Gln	0					ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q	p.R320Q			1	2	3	1.991067	Q11206	SIA4C_HUMAN		10	1333	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	1	1	hg19	c.959G>A	CCDS58193.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.49	3.837154	0.71373	2.27E-4	0.002094	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	T	0.39064	0.1064	L	0.43152	1.355	0.38415	D	0.946021	D;D	0.67145	0.996;0.996	P;P	0.56563	0.801;0.801	T	0.12451	-1.0547	9	0.32370	T	0.25	.	12.2135	0.54394	0.0781:0.0:0.9219:0.0	.	316;320	Q6IBE6;Q11206	.;SIA4C_HUMAN	Q	316;320;326;316;320;320;320;309;319;315	ENSP00000227495:R316Q;ENSP00000394354:R320Q;ENSP00000348451:R326Q;ENSP00000433989:R316Q;ENSP00000433318:R320Q;ENSP00000376437:R320Q;ENSP00000436047:R320Q;ENSP00000399444:R309Q;ENSP00000434349:R319Q;ENSP00000434668:R315Q	ENSP00000227495:R316Q	R	+	2	0	0	ST3GAL4	125789109	125789109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.656000	0.90262	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-2.829208	1	0.170000	NM_006278			39	39		218	213	1		1	1		0	0	45	0		1	1	0	17	0	165	0	39	218
KIRREL3	84623	broad.mit.edu	37	11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T	rs375680865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N|KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	729	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622																																						ENST00000525144.2	1.000000	0.740000	1	8.800000e-01	0.990000	0.957802	0.990000	1.000000																										0				29						c.(2185-2187)aGc>aAc		kin of IRRE like 3 (Drosophila)							106.0	114.0	111.0					11																	126294626		2190	4289	6479	SO:0001583	missense	84623	0	0					g.chr11:126294626C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2186G>A	chr11.hg19:g.126294626C>T	ENSP00000435466:p.Ser729Asn	0					KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N|KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N	p.S729N	NM_032531.3	NP_115920.1	1	2	3	1.991067	Q8IZU9	KIRR3_HUMAN		17	2435	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	1	1	hg19	c.2186G>A	CCDS53723.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736977	0.89482	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.46451	0.87;0.87;0.87	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.048757	0.85682	D	0.000000	T	0.28896	0.0717	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.33694	0.421;0.421	B;B	0.29785	0.107;0.107	T	0.17837	-1.0356	10	0.52906	T	0.07	-13.4121	17.8235	0.88657	0.0:1.0:0.0:0.0	.	717;729	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	N	729;717;196	ENSP00000435466:S729N;ENSP00000434081:S717N;ENSP00000408692:S196N	ENSP00000408692:S196N	S	-	2	0	0	KIRREL3	125799836	125799836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.543000	0.85770	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-11.581280	1	0.170000	NM_032531			36	36		375	370	0		1			0	0	87	0		1	0	0	0	0	0	0	36	375
KIRREL3	84623	broad.mit.edu	37	11	126294877	126294877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000529097.2_Silent_p.E633E|KIRREL3_ENST00000416561.2_Silent_p.E112E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	645					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617																																						ENST00000525144.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.992063	0.990000	1.000000																										0				29						c.(1933-1935)gaG>gaA		kin of IRRE like 3 (Drosophila)							29.0	36.0	33.0					11																	126294877		2159	4270	6429	SO:0001819	synonymous_variant	84623	0	0					g.chr11:126294877C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1935G>A	chr11.hg19:g.126294877C>T		0					KIRREL3_ENST00000529097.2_Silent_p.E633E|KIRREL3_ENST00000416561.2_Silent_p.E112E	p.E645E	NM_032531.3	NP_115920.1	1	2	3	1.991067	Q8IZU9	KIRR3_HUMAN		17	2184	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	0	1	hg19	c.1935G>A	CCDS53723.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.262010	1	0.170000	NM_032531			11	11		69	65	1		1	0		0	0	17	0		9.983056e-01	1.624168e-01	0	0	0	5	0	11	69
MUC5B	727897	broad.mit.edu	37	11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000529681.1	+	31	5548	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1830	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)				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)		GCATAGAGTGCCGGGCGGAGA	0.597																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(5488-5490)tgC>tgA		mucin 5B, oligomeric mucus/gel-forming							53.0	65.0	61.0					11																	1263600		2071	4203	6274	SO:0001587	stop_gained	727897	0	0					g.chr11:1263600C>A	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.5490C>A	chr11.hg19:g.1263600C>A	ENSP00000436812:p.Cys1830*	0					MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*|RP11-532E4.2_ENST00000532061.2_RNA	p.C1830*	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	5548	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	0	1	hg19	c.5490C>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	c	42	9.487211	0.99184	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-0.141	0.13452	4.64	-0.141	0.13452	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4732	0.44648	0.0:0.6651:0.0:0.3349	.	.	.	.	X	1830;1833;1831;1900	.	ENSP00000343037:C1831X	C	+	3	2	2	MUC5B	1220176	1220176	0.000000	0.05858	0.670000	0.29842	0.106000	0.19336	-0.806000	0.04525	0.072000	0.16694	-0.674000	0.03794	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	XM_001126093			61	56		252	245	1		1	0		0	0	54	0		1	0	0	0	0	1	0	61	252
MUC5B	727897	broad.mit.edu	37	11	1264986	1264986	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000529681.1	+	31	6934	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.R2295R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	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)				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)		GCAAGACCCGCACCTCGACCC	0.682																																						ENST00000529681.1	1.000000	0.730000	1	8.100000e-01	0.910000	0.907770	0.910000	1.000000																										0				137						c.(6874-6876)cgC>cgA		mucin 5B, oligomeric mucus/gel-forming							57.0	87.0	77.0					11																	1264986		2090	4200	6290	SO:0001819	synonymous_variant	727897	1	120970	29				g.chr11:1264986C>A	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.6876C>A	chr11.hg19:g.1264986C>A		0					MUC5B_ENST00000447027.1_Silent_p.R2295R|RP11-532E4.2_ENST00000532061.2_RNA	p.R2292R	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	6934	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	1	1	hg19	c.6876C>A	CCDS44515.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	212		212	222	1	2.060000	-18.133100	1	0.170000	XM_001126093			88	63		1056	824	0		1	0		0	0	212	0		1	0	0	1	0	0	0	88	1056
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A	rs551355085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2632T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(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)		CGGCACGCACGCTTCCAGTGT	0.637																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.T2608T(1)|p.T2629T(1)	lung(2)	137						c.(7885-7887)acG>acA		mucin 5B, oligomeric mucus/gel-forming							147.0	178.0	168.0					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897	0	0					g.chr11:1265997G>A	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.7887G>A	chr11.hg19:g.1265997G>A		0					MUC5B_ENST00000447027.1_Silent_p.T2632T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2629T	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	7945	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	1	0	hg19	c.7887G>A	CCDS44515.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-1.541174	0	0.170000	XM_001126093			90	87		379	361	1		1	0		0	0	109	0		1	0	0	0	0	1	0	90	379
MUC5B	727897	broad.mit.edu	37	11	1266175	1266175	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1266175T>C	ENST00000529681.1	+	31	8123	c.8065T>C	c.(8065-8067)Tca>Cca	p.S2689P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S2692P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2689	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACTcccccatcactgaccac	0.617																																						ENST00000529681.1	1.000000	0.650000	1	9.900000e-01	0.990000	0.969693	0.990000	1.000000																										0				137						c.(8065-8067)Tca>Cca		mucin 5B, oligomeric mucus/gel-forming							24.0	31.0	29.0					11																	1266175		1758	3906	5664	SO:0001583	missense	727897	0	0					g.chr11:1266175T>C	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.8065T>C	chr11.hg19:g.1266175T>C	ENSP00000436812:p.Ser2689Pro	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.S2692P|RP11-532E4.2_ENST00000532061.2_RNA	p.S2689P	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	8123	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	0	1	hg19	c.8065T>C	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.899145	0.00517	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21031	2.03;2.22	2.0	-3.99	0.04069	2.0	-3.99	0.04069	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	9	0.87932	D	0	.	2.3821	0.04357	0.1005:0.338:0.2342:0.3273	.	2692	E9PBJ0	.	P	2689;2692;2661	ENSP00000436812:S2689P;ENSP00000415793:S2692P	ENSP00000343037:S2661P	S	+	1	0	0	MUC5B	1222751	1222751	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.299000	0.00257	-4.729000	0.00034	-3.193000	0.00055	TCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	0	1		2	2	2	0		0	0	15		15	20	1	2.060000	-2.874287	1	0.170000	XM_001126093			6	5		40	33	0		1			0	0	15	0		9.438055e-01	0	0	0	0	0	0	6	40
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A	rs563936822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3015P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		16823	0.0		0.003	False		,,,				2504	0.001					ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(9034-9036)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							139.0	168.0	158.0					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897	195	121224	57				g.chr11:1267146G>A	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.9036G>A	chr11.hg19:g.1267146G>A		0					MUC5B_ENST00000447027.1_Silent_p.P3015P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3012P	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	9094	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	1	1	hg19	c.9036G>A	CCDS44515.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	190		190	185	1	2.060000	-3.517335	1	0.170000	XM_001126093			177	172		745	718	1		1			0	0	190	0		1	0	0	0	0	0	0	177	745
MUC5B	727897	broad.mit.edu	37	11	1270821	1270821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	ENST00000529681.1	+	31	12769	c.12711G>A	c.(12709-12711)acG>acA	p.T4237T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4240T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4237	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)				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)		CCAGCTCTACGGCCATGCCCT	0.607																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(12709-12711)acG>acA		mucin 5B, oligomeric mucus/gel-forming							52.0	58.0	56.0					11																	1270821		1869	4061	5930	SO:0001819	synonymous_variant	727897	0	0					g.chr11:1270821G>A	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.12711G>A	chr11.hg19:g.1270821G>A		0					MUC5B_ENST00000447027.1_Silent_p.T4240T|RP11-532E4.2_ENST00000532061.2_RNA	p.T4237T	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	12769	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	0	1	hg19	c.12711G>A	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	g	2.339	-0.351471	0.05173	.	.	ENSG00000117983	ENST00000535652	.	.	.	2.04	-0.63	0.11530	2.04	-0.63	0.11530	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.11182	T	0.66	.	5.9617	0.19303	0.1572:0.2557:0.587:0.0	.	.	.	.	Q	17	.	ENSP00000439776:R17Q	R	+	2	0	0	MUC5B	1227397	1227397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.433000	0.02428	0.114000	0.18032	0.393000	0.25936	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	149		149	234	1	2.060000	-2.941845	1	0.170000	XM_001126093			137	104		642	500	0		1			0	0	149	0		1	0	0	0	0	0	0	137	642
MUC5B	727897	broad.mit.edu	37	11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T	rs190661408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000529681.1	+	31	14340	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4761	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.T4716M(1)|p.T4761M(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)		CTGTGGACCACGTGGACCGTC	0.582																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T4716M(1)|p.T4761M(1)	lung(2)	137						c.(14281-14283)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	2,4342		0,2,2170	168.0	192.0	184.0		14282	-3.7	0.0	11		184	0,8500		0,0,4250	no	missense	MUC5B	NM_002458.2	81	0,2,6420	TT,TC,CC		0.0,0.046,0.0156		4761/5763	1272392	2,12842	2172	4250	6422	SO:0001583	missense	727897	6	121188	43				g.chr11:1272392C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14282C>T	chr11.hg19:g.1272392C>T	ENSP00000436812:p.Thr4761Met	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M|RP11-532E4.2_ENST00000532061.2_RNA	p.T4761M	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		31	14340	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.14282C>T	CCDS44515.2	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	3.663|3.663	-0.069163|-0.069163	0.07228|0.07228	4.6E-4|4.6E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637	.|T;T	.|0.23552	.|1.9;2.08	1.83|1.83	-3.67|-3.67	0.04476|0.04476	1.83|1.83	-3.67|-3.67	0.04476|0.04476	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P	.|0.38250	.|0.624	.|B	.|0.28139	.|0.086	T|T	0.08351|0.08351	-1.0726|-1.0726	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0104|5.0104	0.14310|0.14310	0.4155:0.4485:0.0:0.136|0.4155:0.4485:0.0:0.136	.|.	.|4764	.|E9PBJ0	.|.	C|M	533|4761;4764;4705	.|ENSP00000436812:T4761M;ENSP00000415793:T4764M	ENSP00000439776:R533C|ENSP00000343037:T4705M	R|T	+|+	1|2	0|0	0|0	MUC5B|MUC5B	1228968|1228968	1228968|1228968	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-0.953000|-0.953000	0.03645|0.03645	0.194000|0.194000	0.17425|0.17425	CGT|ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	120		120	114	1	2.060000	-20.000000	1	0.170000	XM_001126093			102	95		441	421	1		1	0		0	0	120	0		1	2.407881e-01	0	0	0	5	0	102	441
MUC5B	727897	broad.mit.edu	37	11	1275968	1275968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000529681.1	+	35	15580	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N	MUC5B_ENST00000447027.1_Silent_p.N5177N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5174	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCAAGAACGGCGTGCTTG	0.622																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				137						c.(15520-15522)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming							72.0	75.0	74.0					11																	1275968		2131	4240	6371	SO:0001819	synonymous_variant	727897	3	120860	33				g.chr11:1275968C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15522C>T	chr11.hg19:g.1275968C>T		0					MUC5B_ENST00000447027.1_Silent_p.N5177N	p.N5174N	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		35	15580	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	1	1	hg19	c.15522C>T	CCDS44515.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	XM_001126093			33	33		150	146	1		1	1		0	0	51	0		1	6.204327e-01	0	7	0	4	0	33	150
MUC5B	727897	broad.mit.edu	37	11	1278796	1278796	+	Missense_Mutation	SNP	G	G	A	rs55657020	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1278796G>A	ENST00000529681.1	+	41	16364	c.16306G>A	c.(16306-16308)Gtg>Atg	p.V5436M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5439M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5436	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCTGCGTGTGTGACGA	0.662													G|||	59	0.0117812	0.0053	0.0086	5008	,	,		15673	0.0		0.0378	False		,,,				2504	0.0082					ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(16306-16308)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming		G	MET/VAL	32,4258		0,32,2113	48.0	62.0	57.0		16306	0.7	0.0	11	dbSNP_129	57	269,8213		5,259,3977	yes	missense	MUC5B	NM_002458.2	21	5,291,6090	AA,AG,GG		3.1714,0.7459,2.3567	possibly-damaging	5436/5763	1278796	301,12471	2145	4241	6386	SO:0001583	missense	727897	3256	120484	64				g.chr11:1278796G>A	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.16306G>A	chr11.hg19:g.1278796G>A	ENSP00000436812:p.Val5436Met	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.V5439M	p.V5436M	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		41	16364	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	0	hg19	c.16306G>A	CCDS44515.2	1	35	0.016025641025641024	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	30	0.0395778364116095	G	5.789	0.329996	0.10956	0.007459	0.031714	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.54279	0.58;0.58	4.95	0.711	0.18162	4.95	0.711	0.18162	.	.	.	.	.	T	0.10937	0.0267	L	0.41236	1.265	0.09310	N	1	P;P	0.44260	0.83;0.83	B;B	0.36608	0.177;0.229	T	0.07908	-1.0748	9	0.87932	D	0	.	5.1074	0.14790	0.2692:0.1497:0.5811:0.0	rs55657020	5773;5439	A7Y9J9;E9PBJ0	.;.	M	5436;5439;5380;335;5148	ENSP00000436812:V5436M;ENSP00000415793:V5439M	ENSP00000343037:V5380M	V	+	1	0	0	MUC5B	1235372	1235372	0.000000	0.05858	0.033000	0.17914	0.276000	0.26787	0.268000	0.18571	0.121000	0.18284	0.549000	0.68633	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-1.535018	0	0.170000	XM_001126093			33	32		122	120	1		1	1		0	0	29	0		1	4.658235e-01	0	4	0	3	0	33	122
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000529681.1	+	43	16638	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627																																						ENST00000529681.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999290	0.990000	1.000000																										0				137						c.(16579-16581)gGc>gTc		mucin 5B, oligomeric mucus/gel-forming							50.0	58.0	55.0					11																	1279584		2072	4194	6266	SO:0001583	missense	727897	0	0					g.chr11:1279584G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16580G>T	chr11.hg19:g.1279584G>T	ENSP00000436812:p.Gly5527Val	0					MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	p.G5527V	NM_002458.2	NP_002449.2	1	2	3	1.993097	Q9HC84	MUC5B_HUMAN		43	16638	+		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)	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	1	1	hg19	c.16580G>T	CCDS44515.2	1	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727900	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	1.72	0.24424	4.91	1.72	0.24424	.	.	.	.	.	T	0.78966	0.4367	M	0.61703	1.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64144	0.922;0.922	T	0.65335	-0.6193	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	V	5527;5530;5471;426;5239;72	ENSP00000436812:G5527V;ENSP00000415793:G5530V;ENSP00000434539:G72V	ENSP00000343037:G5471V	G	+	2	0	0	MUC5B	1236160	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	XM_001126093			17	17		90	90	1		1	0		0	0	18	0		9.999793e-01	3.883223e-01	0	1	0	7	0	17	90
KIRREL3	84623	broad.mit.edu	37	11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A	rs542711141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	371	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGGAGCCCCGCTTCATCCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17626	0.0		0.001	False		,,,				2504	0.0					ENST00000525144.2	1.000000	0.750000	1	9.900000e-01	0.990000	0.983978	0.990000	1.000000																										0				29						c.(1111-1113)Cgg>Tgg		kin of IRRE like 3 (Drosophila)							27.0	30.0	29.0					11																	126316668		2011	4171	6182	SO:0001583	missense	84623	5	120788	31				g.chr11:126316668G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1111C>T	chr11.hg19:g.126316668G>A	ENSP00000435466:p.Arg371Trp	0					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	p.R371W	NM_032531.3	NP_115920.1	1	2	3	1.991067	Q8IZU9	KIRR3_HUMAN		9	1360	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	1	1	hg19	c.1111C>T	CCDS53723.1	1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733469	0.48939	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.28069	1.63;1.63;1.63	4.77	3.84	0.44239	4.77	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.55101	-0.8193	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.844:0.156	.	371;371;371	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	371	ENSP00000435466:R371W;ENSP00000434081:R371W;ENSP00000435094:R371W	ENSP00000435466:R371W	R	-	1	2	2	KIRREL3	125821878	125821878	0.993000	0.37304	1.000000	0.80357	0.403000	0.30841	2.427000	0.44740	0.949000	0.37715	0.297000	0.19635	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-14.098840	1	0.170000	NM_032531			7	6		41	41	1		1	0		0	0	19	0		9.820674e-01	2.823529e-02	0	0	0	2	0	7	41
FLI1	2313	broad.mit.edu	37	11	128680721	128680721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000527786.2	+	9	1686	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.2_Silent_p.N366N|FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	399					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)		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)		AGAAGGTGAACTTTGTCCCTC	0.572			T	EWSR1	Ewing sarcoma																																	ENST00000527786.2	1.000000	0.350000	8.300000e-01	4.700000e-01	0.630000	0.652914	0.630000	1.000000				Dom	yes			Dom	yes		11	11q24	11q24	2313	T	Friend leukemia virus integration 1				M	M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				31						c.(1195-1197)aaC>aaT		Fli-1 proto-oncogene, ETS transcription factor							107.0	113.0	111.0					11																	128680721		2134	4226	6360	SO:0001819	synonymous_variant	2313	0	0					g.chr11:128680721C>T	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.1197C>T	chr11.hg19:g.128680721C>T		0					FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000534087.2_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000281428.8_Silent_p.N333N	p.N399N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	1	2	3	1.991067	Q01543	FLI1_HUMAN		9	1686	+	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)	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	1	1	hg19	c.1197C>T	CCDS44768.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-15.755740	1	0.170000	NM_002017			13	13		238	230	0		1	0		0	0	49	0		9.994715e-01	9.570290e-01	0	0	0	100	0	13	238
KCNJ1	3758	broad.mit.edu	37	11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392664.2	-	2	1258	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	381					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATTGACTTCTGACAAGATGAA	0.433																																						ENST00000392664.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				23						c.(1141-1143)tCa>tTa		potassium inwardly-rectifying channel, subfamily J, member 1	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)						123.0	107.0	113.0					11																	128709054		2201	4297	6498	SO:0001583	missense	3758	0	0					g.chr11:128709054G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.1142C>T	chr11.hg19:g.128709054G>A	ENSP00000376432:p.Ser381Leu	0					KCNJ1_ENST00000392665.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L	p.S381L	NM_000220.4	NP_000211.1	1	2	3	1.991067	P48048	KCNJ1_HUMAN		2	1258	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	1	1	hg19	c.1142C>T	CCDS8476.1	1	.	.	.	.	.	.	.	.	.	.	G	2.846	-0.239413	0.05944	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.39	5.61	4.67	0.58626	5.61	4.67	0.58626	.	0.761422	0.12512	N	0.462434	T	0.76962	0.4061	N	0.08118	0	0.30629	N	0.757678	B	0.14012	0.009	B	0.06405	0.002	T	0.63093	-0.6714	10	0.08837	T	0.75	.	14.3961	0.67013	0.0:0.0:0.7371:0.2629	.	381	P48048	IRK1_HUMAN	L	362;362;362;362;381	ENSP00000376433:S362L;ENSP00000376434:S362L;ENSP00000406320:S362L;ENSP00000316233:S362L;ENSP00000376432:S381L	ENSP00000316233:S362L	S	-	2	0	0	KCNJ1	128214264	128214264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.657000	0.61490	2.635000	0.89317	0.563000	0.77884	TCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_000220			38	36		214	212	1		1			0	0	45	0		1	0	0	0	0	0	0	38	214
KCNJ5	3762	broad.mit.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					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)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000338350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(667-669)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 5	Glyburide(DB01016)						94.0	94.0	94.0					11																	128781835		2201	4297	6498	SO:0001583	missense	3762	1	121398	32				g.chr11:128781835G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	chr11.hg19:g.128781835G>A	ENSP00000339960:p.Asp223Asn	0					KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N	p.D223N			1	2	3	1.991067	P48544	KCNJ5_HUMAN		3	1019	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	1	1	hg19	c.667G>A	CCDS8479.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	5.46	5.46	0.80206	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	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	0	KCNJ5	128287045	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_000890			79	78		428	417	1		1	0		0	0	96	0		1	3.036606e-01	0	0	0	7	0	79	428
KCNJ5	3762	broad.mit.edu	37	11	128786590	128786590	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000338350.4	+	4	1576	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	408					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)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000338350.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(1222-1224)ggG>ggA		potassium inwardly-rectifying channel, subfamily J, member 5	Glyburide(DB01016)						12.0	14.0	13.0					11																	128786590		2191	4266	6457	SO:0001819	synonymous_variant	3762	0	0					g.chr11:128786590G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1224G>A	chr11.hg19:g.128786590G>A		0					KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G	p.G408G			1	2	3	1.991067	P48544	KCNJ5_HUMAN		4	1576	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	1	1	hg19	c.1224G>A	CCDS8479.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_000890			33	33		138	138	1		1	0		0	0	23	0		1	1.023321e-01	0	0	0	3	0	33	138
ARHGAP32	9743	broad.mit.edu	37	11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A	rs543689971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000310343.9	-	22	5847	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				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)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517																																						ENST00000310343.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(5848-5850)Cga>Tga		Rho GTPase activating protein 32							85.0	85.0	85.0					11																	128839218		2201	4297	6498	SO:0001587	stop_gained	9743	1	121412	34				g.chr11:128839218G>A	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.5848C>T	chr11.hg19:g.128839218G>A	ENSP00000310561:p.Arg1950*	0					ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*	p.R1950*	NM_001142685.1	NP_001136157.1	1	2	3	1.991067	A7KAX9	RHG32_HUMAN		22	5847	-			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	0	1	hg19	c.5848C>T	CCDS44769.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.648363	0.98899	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	0.409	0.16382	5.95	0.409	0.16382	.	0.091682	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1038	0.53801	0.0641:0.0:0.5541:0.3818	.	.	.	.	X	1950;1601;1601	.	ENSP00000310561:R1950X	R	-	1	2	2	ARHGAP32	128344428	128344428	0.640000	0.27243	0.274000	0.24659	0.971000	0.66376	0.127000	0.15790	-0.184000	0.10567	0.655000	0.94253	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_014715			116	114		417	409	1		1	1		0	0	99	0		1	9.999863e-01	0	22	0	38	0	116	417
ARHGAP32	9743	broad.mit.edu	37	11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A	rs577826686		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000310343.9	-	22	5542	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1848	Interaction with FYN.				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)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617																																						ENST00000310343.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(5542-5544)aCg>aTg		Rho GTPase activating protein 32							60.0	55.0	57.0					11																	128839523		2201	4297	6498	SO:0001583	missense	9743	6	121412	37				g.chr11:128839523G>A	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.5543C>T	chr11.hg19:g.128839523G>A	ENSP00000310561:p.Thr1848Met	0					ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M	p.T1848M	NM_001142685.1	NP_001136157.1	1	2	3	1.991067	A7KAX9	RHG32_HUMAN		22	5542	-			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	1	1	hg19	c.5543C>T	CCDS44769.1	1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116592	0.06838	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08720	3.06;3.06;3.06	6.07	-0.14	0.13456	6.07	-0.14	0.13456	.	0.721795	0.13291	N	0.399017	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.26310	0.068	T	0.40757	-0.9546	10	0.49607	T	0.09	.	2.2666	0.04080	0.2839:0.4168:0.1589:0.1404	.	1848	A7KAX9	RHG32_HUMAN	M	1848;1499;1499	ENSP00000310561:T1848M;ENSP00000376425:T1499M;ENSP00000432862:T1499M	ENSP00000310561:T1848M	T	-	2	0	0	ARHGAP32	128344733	128344733	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.729000	0.26028	-0.262000	0.09392	0.655000	0.94253	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_014715			62	61		277	271	1		1	1		0	0	60	0		1	9.999251e-01	0	20	0	45	0	62	277
TEAD1	7003	broad.mit.edu	37	11	12901216	12901216	+	Missense_Mutation	SNP	C	C	T	rs374937210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12901216C>T	ENST00000526600.1	+	1	227	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTAGCCATGCGTTATGTATT	0.483																																						ENST00000526600.1	1.000000	0.120000	4.300000e-01	2.000000e-01	0.290000	0.335266	0.290000	0.270000																										0				17						c.(4-6)Cgt>Tgt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							68.0	58.0	61.0					11																	12901216		2200	4294	6494	SO:0001583	missense	7003	0	0					g.chr11:12901216C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.4C>T	chr11.hg19:g.12901216C>T	ENSP00000435393:p.Arg2Cys	0					TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron	p.R2C			1	2	3	1.993097	P28347	TEAD1_HUMAN		1	227	+			A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	0	1	hg19	c.4C>T		0	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599157	0.13939	.	.	ENSG00000187079	ENST00000526600	T	0.56444	0.46	6.06	-4.89	0.03103	6.06	-4.89	0.03103	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	8	0.87932	D	0	.	2.6722	0.05070	0.0975:0.3874:0.1928:0.3224	.	2	E9PKB7	.	C	2	ENSP00000435393:R2C	ENSP00000435393:R2C	R	+	1	0	0	TEAD1	12857792	12857792	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.221000	0.09202	-0.826000	0.04284	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-7.570547	1	0.170000	NM_021961			7	7		292	285	0		1	0		0	0	56	0		9.792452e-01	7.920618e-04	0	0	0	2	0	7	292
ARHGAP32	9743	broad.mit.edu	37	11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000310343.9	-	20	2763	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	922					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)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458																																						ENST00000310343.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2764-2766)Gtc>Atc		Rho GTPase activating protein 32							187.0	171.0	176.0					11																	128844286		2201	4297	6498	SO:0001583	missense	9743	0	0					g.chr11:128844286C>T	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.2764G>A	chr11.hg19:g.128844286C>T	ENSP00000310561:p.Val922Ile	0					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	p.V922I	NM_001142685.1	NP_001136157.1	1	2	3	1.991067	A7KAX9	RHG32_HUMAN		20	2763	-			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	1	1	hg19	c.2764G>A	CCDS44769.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463911	0.26335	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.522811	0.19795	N	0.105895	T	0.20577	0.0495	L	0.57536	1.79	0.22366	N	0.999161	B;B	0.30741	0.008;0.293	B;B	0.24541	0.016;0.054	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.7703	0.40585	0.1405:0.7889:0.0:0.0706	.	856;922	Q86T64;A7KAX9	.;RHG32_HUMAN	I	922;573;848;856;573	ENSP00000310561:V922I;ENSP00000376425:V573I;ENSP00000432468:V848I;ENSP00000432862:V573I	ENSP00000310561:V922I	V	-	1	0	0	ARHGAP32	128349496	128349496	0.960000	0.32886	1.000000	0.80357	0.683000	0.39861	1.044000	0.30329	2.745000	0.94114	0.655000	0.94253	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_014715			93	92		311	307	1		1	1		0	0	70	0		1	9.928197e-01	0	10	0	18	0	93	311
BARX2	8538	broad.mit.edu	37	11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000526127.1_Missense_Mutation_p.E90G|BARX2_ENST00000531946.1_Missense_Mutation_p.E113G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	235					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577																																						ENST00000281437.4	1.000000	0.340000	7.200000e-01	4.400000e-01	0.560000	0.586209	0.560000	0.550000																										0				20						c.(703-705)gAg>gGg		BARX homeobox 2							69.0	62.0	64.0					11																	129321161		2201	4297	6498	SO:0001583	missense	8538	0	0					g.chr11:129321161A>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.704A>G	chr11.hg19:g.129321161A>G	ENSP00000281437:p.Glu235Gly	0					BARX2_ENST00000526127.1_Missense_Mutation_p.E90G|BARX2_ENST00000531946.1_Missense_Mutation_p.E113G	p.E235G	NM_003658.4	NP_003649.2	1	2	3	1.991067	Q9UMQ3	BARX2_HUMAN		4	800	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	1	1	hg19	c.704A>G	CCDS8481.1	0	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181217	0.38511	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90504	-2.68;-2.32;-2.3	5.51	-1.45	0.08828	5.51	-1.45	0.08828	.	0.968359	0.08586	N	0.923773	T	0.79215	0.4408	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61840	-0.6980	10	0.30078	T	0.28	.	4.3094	0.10964	0.4623:0.3558:0.0668:0.1151	.	235	Q9UMQ3	BARX2_HUMAN	G	235;90;113	ENSP00000281437:E235G;ENSP00000451113:E90G;ENSP00000450418:E113G	ENSP00000281437:E235G	E	+	2	0	0	BARX2	128826371	128826371	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.171000	0.31896	-0.552000	0.06167	0.533000	0.62120	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-19.212780	1	0.170000	NM_003658			18	17		369	362	0		1	0		0	0	60	0		9.999798e-01	3.792622e-01	0	1	0	26	0	18	369
PRDM10	56980	broad.mit.edu	37	11	129784704	129784704	+	Silent	SNP	C	C	T	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000360871.3	-	17	2967	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000423662.2_Silent_p.T830T|PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000358825.5_Silent_p.T916T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	916	Thr-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			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)		CCCCTTGTGGCGTTCGGTAGT	0.557													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000360871.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2734-2736)acG>acA		PR domain containing 10		C	,,,	8,4394	14.3+/-33.2	0,8,2193	327.0	287.0	301.0		2748,2736,2490,2478	-6.3	0.0	11	dbSNP_134	301	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,8,6490	TT,TC,CC		0.0,0.1817,0.0616	,,,	916/1161,912/1157,830/1062,826/1024	129784704	8,12988	2201	4297	6498	SO:0001819	synonymous_variant	56980	55	121412	53				g.chr11:129784704C>T	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.2736G>A	chr11.hg19:g.129784704C>T		0					PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000358825.5_Silent_p.T916T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000423662.2_Silent_p.T830T	p.T912T	NM_199437.1	NP_955469.1	1	2	3	1.991067	Q9NQV6	PRD10_HUMAN		17	2967	-	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)	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	1	1	hg19	c.2736G>A	CCDS8484.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1		2	2	2	0		0	0	225		225	223	1	2.060000	-6.490225	1	0.170000	NM_199437			207	204		1064	1044	1		1	0		0	0	225	0		1	6.894213e-01	0	0	0	14	0	207	1064
PRDM10	56980	broad.mit.edu	37	11	129793151	129793151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	ENST00000360871.3	-	13	2257	c.2026C>T	c.(2026-2028)Caa>Taa	p.Q676*	PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q680*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	680					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			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)		ACCTTAAATTGCTTCCCACAG	0.507											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360871.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997264	0.990000	1.000000																										0				48						c.(2026-2028)Caa>Taa		PR domain containing 10							92.0	72.0	79.0					11																	129793151		2201	4297	6498	SO:0001587	stop_gained	56980	0	0					g.chr11:129793151G>A	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.2026C>T	chr11.hg19:g.129793151G>A	ENSP00000354118:p.Gln676*	0		OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q680*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*	p.Q676*	NM_199437.1	NP_955469.1	1	2	3	1.991067	Q9NQV6	PRD10_HUMAN		13	2257	-	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)	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	0	1	hg19	c.2026C>T	CCDS8484.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.335163	0.98764	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-13.4947	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	680;590;676;594;650;594;393	.	ENSP00000302669:Q590X	Q	-	1	0	0	PRDM10	129298361	129298361	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.247000	0.95444	2.937000	0.99478	0.650000	0.86243	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-17.333530	1	0.170000	NM_199437			8	8		29	28	1		1	0		0	0	11	0		9.911733e-01	8.712567e-01	0	0	0	16	0	8	29
PRDM10	56980	broad.mit.edu	37	11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000360871.3	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000358825.5_Missense_Mutation_p.S385N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	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)|methyltransferase activity (GO:0008168)			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)		TACATACCTGCTAAACACATC	0.418																																						ENST00000360871.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1153-1155)aGc>aAc		PR domain containing 10							171.0	154.0	160.0					11																	129804999		2201	4297	6498	SO:0001583	missense	56980	0	0					g.chr11:129804999C>T	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.1154G>A	chr11.hg19:g.129804999C>T	ENSP00000354118:p.Ser385Asn	0					PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000358825.5_Missense_Mutation_p.S385N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N	p.S385N	NM_199437.1	NP_955469.1	1	2	3	1.991067	Q9NQV6	PRD10_HUMAN		9	1385	-	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)	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	1	1	hg19	c.1154G>A	CCDS8484.1	1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665007	0.47572	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.9;2.9;2.9;2.88;2.95;2.88;2.98	5.11	4.17	0.49024	5.11	4.17	0.49024	.	0.170685	0.52532	D	0.000073	T	0.12178	0.0296	L	0.27053	0.805	0.40702	D	0.982499	B;B;P;B;B;P;P	0.46784	0.023;0.152;0.884;0.201;0.039;0.73;0.782	B;B;P;B;B;B;B	0.46076	0.012;0.036;0.503;0.024;0.027;0.37;0.24	T	0.04413	-1.0953	10	0.66056	D	0.02	.	15.1785	0.72934	0.0:0.8532:0.1468:0.0	.	299;385;385;385;299;299;299	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	N	385;299;385;299;359;299;102	ENSP00000351686:S385N;ENSP00000302669:S299N;ENSP00000354118:S385N;ENSP00000398431:S299N;ENSP00000431262:S359N;ENSP00000432237:S299N;ENSP00000435940:S102N	ENSP00000302669:S299N	S	-	2	0	0	PRDM10	129310209	129310209	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.494000	0.45329	1.127000	0.42034	0.486000	0.48141	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-20.000000	1	0.170000	NM_199437			107	101		522	503	1		1	1		0	0	171	0		1	3.427721e-01	0	2	0	5	0	107	522
APLP2	334	broad.mit.edu	37	11	129993589	129993589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	335	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547																																						ENST00000263574.5	1.000000	0.490000	8.200000e-01	5.800000e-01	0.690000	0.708550	0.690000	0.680000																										0				31						c.(1003-1005)tgC>tgT		amyloid beta (A4) precursor-like protein 2							129.0	123.0	125.0					11																	129993589		2201	4297	6498	SO:0001819	synonymous_variant	334	1	121412	34				g.chr11:129993589C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1005C>T	chr11.hg19:g.129993589C>T		0					APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C	p.C335C	NM_001642.2	NP_001633.1	1	2	3	1.991067	Q06481	APLP2_HUMAN		7	1077	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	1	1	hg19	c.1005C>T	CCDS8486.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-6.751520	1	0.170000	NM_001642			38	38		616	610	0		1	1		0	0	95	0		1	1	0	30	0	664	0	38	616
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502																																						ENST00000263574.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				31						c.(1969-1971)Gag>Aag		amyloid beta (A4) precursor-like protein 2							113.0	109.0	111.0					11																	130011402		2201	4297	6498	SO:0001583	missense	334	1	121412	29				g.chr11:130011402G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1969G>A	chr11.hg19:g.130011402G>A	ENSP00000263574:p.Glu657Lys	0					APLP2_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K	p.E657K	NM_001642.2	NP_001633.1	1	2	3	1.991067	Q06481	APLP2_HUMAN		16	2041	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	1	1	hg19	c.1969G>A	CCDS8486.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205480	0.79127	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94376	-3.37;-3.22;-1.68;-3.41;-1.89;-1.9;-1.88	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.099482	0.64402	D	0.000003	D	0.94571	0.8251	L	0.29908	0.895	0.80722	D	1	D;D;P;P;D;D;P	0.89917	0.998;0.969;0.932;0.803;0.972;1.0;0.789	P;B;B;B;B;D;B	0.79108	0.805;0.225;0.263;0.268;0.31;0.992;0.128	D	0.93070	0.6482	9	.	.	.	-36.2148	19.8676	0.96824	0.0:0.0:1.0:0.0	.	445;657;601;416;583;589;645	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	589;445;657;416;645;655;552	ENSP00000435914:E589K;ENSP00000443728:E445K;ENSP00000263574:E657K;ENSP00000263575:E416K;ENSP00000345444:E645K;ENSP00000278756:E655K;ENSP00000444122:E552K	.	E	+	1	0	0	APLP2	129516612	129516612	1.000000	0.71417	0.980000	0.43619	0.833000	0.47200	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.771238	1	0.170000	NM_001642			36	35		192	189	1		1	1		0	0	48	0		1	1	0	625	0	1382	0	36	192
ST14	6768	broad.mit.edu	37	11	130067743	130067743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	454	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)	CAGCATGCCCGGGGCAGTTCA	0.706																																						ENST00000278742.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998277	0.990000	1.000000																										0				32						c.(1360-1362)ccG>ccA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						21.0	17.0	18.0					11																	130067743		2191	4290	6481	SO:0001819	synonymous_variant	6768	6	120038	27				g.chr11:130067743G>A	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.1362G>A	chr11.hg19:g.130067743G>A		0						p.P454P	NM_021978.3	NP_068813.1	1	2	3	1.991067	Q9Y5Y6	ST14_HUMAN		12	1780	+	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)	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	1	1	hg19	c.1362G>A	CCDS8487.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.513640	1	0.170000				10	10		41	41	1		1	1		0	0	14	0		9.978505e-01	1	0	260	0	459	0	10	41
ST14	6768	broad.mit.edu	37	11	130068436	130068436	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	ENST00000278742.5	+	14	2022	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	535	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)	TGTTCCAATGGGAAGTGCCTC	0.672																																						ENST00000278742.5	1.000000	0.170000	5.100000e-01	2.500000e-01	0.360000	0.395563	0.360000	0.330000																										0				32						c.(1603-1605)gGg>gTg		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						53.0	57.0	56.0					11																	130068436		2201	4297	6498	SO:0001583	missense	6768	0	0					g.chr11:130068436G>T	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.1604G>T	chr11.hg19:g.130068436G>T	ENSP00000278742:p.Gly535Val	0						p.G535V	NM_021978.3	NP_068813.1	1	2	3	1.991067	Q9Y5Y6	ST14_HUMAN		14	2022	+	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)	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	0	1	hg19	c.1604G>T	CCDS8487.1	0	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907464	0.52333	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.49432	0.78	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.38959	N	0.001509	T	0.79155	0.4398	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85912	0.1441	10	0.48119	T	0.1	.	17.3042	0.87190	0.0:0.0:1.0:0.0	.	535	Q9Y5Y6	ST14_HUMAN	V	535;437	ENSP00000278742:G535V	ENSP00000278742:G535V	G	+	2	0	0	ST14	129573646	129573646	1.000000	0.71417	0.970000	0.41538	0.169000	0.22640	4.692000	0.61746	2.158000	0.67659	0.462000	0.41574	GGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.655445	1	0.170000				9	9		302	299	0		1	1		0	0	46	0		9.941423e-01	9.999959e-01	0	68	0	943	0	9	302
ZBTB44	29068	broad.mit.edu	37	11	130106855	130106855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	ENST00000357899.4	-	5	1673	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_ENST00000397753.1_Silent_p.F467F|ZBTB44_ENST00000525842.1_Intron|ZBTB44_ENST00000530205.1_Intron			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TATATTCCCCGAAGGAAGTGA	0.483																																						ENST00000357899.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1399-1401)ttC>ttT		zinc finger and BTB domain containing 44							54.0	54.0	54.0					11																	130106855		1981	4164	6145	SO:0001819	synonymous_variant	29068	0	0					g.chr11:130106855G>A	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.1401C>T	chr11.hg19:g.130106855G>A		0					ZBTB44_ENST00000397753.1_Silent_p.F467F|ZBTB44_ENST00000525842.1_Intron|ZBTB44_ENST00000530205.1_Intron	p.F467F			1	2	3	1.991067	Q8NCP5	ZBT44_HUMAN		5	1673	-	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)	Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	0	1	hg19	c.1401C>T		1	.	.	.	.	.	.	.	.	.	.	G	9.352	1.065764	0.20067	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	T	0.75606	0.3872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73313	-0.4022	4	.	.	.	.	19.6651	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	W	446	.	.	R	-	1	2	2	ZBTB44	129612065	129612065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.722000	0.93159	0.650000	0.86243	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_014155			33	32		108	103	0		1	1		0	0	31	0		1	9.999492e-01	0	15	0	39	0	33	108
ZBTB44	29068	broad.mit.edu	37	11	130108397	130108397	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000357899.4	-	4	1481	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000397753.1_Silent_p.T403T|ZBTB44_ENST00000525842.1_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	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)			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)		GCACCCCGCAGGTTGGACACT	0.498																																						ENST00000357899.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999102	0.990000	1.000000																										0				15						c.(1207-1209)acC>acA		zinc finger and BTB domain containing 44							80.0	77.0	78.0					11																	130108397		1966	4155	6121	SO:0001819	synonymous_variant	29068	0	0					g.chr11:130108397G>T	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.1209C>A	chr11.hg19:g.130108397G>T		0					ZBTB44_ENST00000397753.1_Silent_p.T403T|ZBTB44_ENST00000525842.1_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T	p.T403T			1	2	3	1.991067	Q8NCP5	ZBT44_HUMAN		4	1481	-	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)	Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	1	1	hg19	c.1209C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233430|1.233430	0.22626|0.22626	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	6.16|6.16	1.76|1.76	0.24704|0.24704	6.16|6.16	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20974|0.20974	-1.0259|-1.0259	4|4	.|.	.|.	.|.	.|.	2.5208|2.5208	0.04679|0.04679	0.2089:0.271:0.3867:0.1334|0.2089:0.271:0.3867:0.1334	.|.	.|.	.|.	.|.	M|H	382|257	.|.	.|.	L|P	-|-	1|2	2|0	2|0	ZBTB44|ZBTB44	129613607|129613607	129613607|129613607	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.461000|0.461000	0.21940|0.21940	0.083000|0.083000	0.17047|0.17047	0.650000|0.650000	0.86243|0.86243	CTG|CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.999800	1	0.170000	NM_014155			13	12		59	56	1		1	1		0	0	22	0		9.995654e-01	9.999620e-01	0	30	0	65	0	13	59
ADAMTS8	11095	broad.mit.edu	37	11	130275525	130275525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	866	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662																																						ENST00000257359.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(2596-2598)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							52.0	60.0	57.0					11																	130275525		1978	4153	6131	SO:0001819	synonymous_variant	11095	0	0					g.chr11:130275525G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2598C>A	chr11.hg19:g.130275525G>T		0						p.A866A	NM_007037.4	NP_008968.4	1	2	3	1.991067	Q9UP79	ATS8_HUMAN		9	3304	-	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)	Q9NZS0	Silent	SNP	ENST00000257359.6	1	1	hg19	c.2598C>A	CCDS41732.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_007037			111	110		419	415	1		1	1		0	0	80	0		1	5.259060e-01	0	2	0	6	0	111	419
ADAMTS8	11095	broad.mit.edu	37	11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A	rs377662947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	577	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567																																						ENST00000257359.6	1.000000	0.850000	1	9.900000e-01	0.990000	0.989271	0.990000	1.000000																										2	Substitution - Missense(2)	p.T577M(1)|p.T606M(1)	pancreas(2)	10						c.(1729-1731)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 8		G	MET/THR	1,3979		0,1,1989	76.0	80.0	79.0		1730	4.7	0.9	11		79	0,8294		0,0,4147	no	missense	ADAMTS8	NM_007037.4	81	0,1,6136	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	577/890	130281332	1,12273	1990	4147	6137	SO:0001583	missense	11095	6	120916	39				g.chr11:130281332G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1730C>T	chr11.hg19:g.130281332G>A	ENSP00000257359:p.Thr577Met	0						p.T577M	NM_007037.4	NP_008968.4	1	2	3	1.991067	Q9UP79	ATS8_HUMAN		6	2436	-	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)	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	1	1	hg19	c.1730C>T	CCDS41732.1	1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470947	0.63625	2.51E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.05649	3.41	5.58	4.67	0.58626	5.58	4.67	0.58626	.	0.093473	0.64402	D	0.000001	T	0.25901	0.0631	M	0.86097	2.795	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.973	T	0.01879	-1.1255	10	0.66056	D	0.02	.	10.8882	0.46978	0.1444:0.0:0.8556:0.0	.	577;58	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	577;606	ENSP00000257359:T577M	ENSP00000257359:T577M	T	-	2	0	0	ADAMTS8	129786542	129786542	1.000000	0.71417	0.917000	0.36280	0.651000	0.38670	3.050000	0.49877	1.502000	0.48669	0.591000	0.81541	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.318794	1	0.170000	NM_007037			36	35		321	314	1		1	0		0	0	75	0		1	8.717333e-02	0	0	0	5	0	36	321
ADAMTS8	11095	broad.mit.edu	37	11	130288972	130288972	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637																																						ENST00000257359.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(934-936)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							94.0	104.0	101.0					11																	130288972		2087	4212	6299	SO:0001819	synonymous_variant	11095	0	0					g.chr11:130288972G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.936C>T	chr11.hg19:g.130288972G>A		0						p.D312D	NM_007037.4	NP_008968.4	1	2	3	1.991067	Q9UP79	ATS8_HUMAN		2	1642	-	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)	Q9NZS0	Silent	SNP	ENST00000257359.6	1	1	hg19	c.936C>T	CCDS41732.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_007037			195	190		780	770	1		1	0		0	0	164	0		1	4.246869e-01	0	0	0	7	0	195	780
SNX19	399979	broad.mit.edu	37	11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	969					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			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)		GACTCCTCAACAGAGGCACTG	0.498																																						ENST00000265909.4	1.000000	0.360000	7.400000e-01	4.600000e-01	0.580000	0.609089	0.580000	0.570000																										0				35						c.(2905-2907)Gtt>Att		sorting nexin 19							114.0	100.0	104.0					11																	130748391		2201	4297	6498	SO:0001583	missense	399979	0	0					g.chr11:130748391C>T	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.2905G>A	chr11.hg19:g.130748391C>T	ENSP00000265909:p.Val969Ile	0					SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I	p.V969I	NM_014758.2	NP_055573	1	2	3	1.991067	Q92543	SNX19_HUMAN		11	3474	-	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)	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	1	1	hg19	c.2905G>A	CCDS31721.1	0	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323966	0.24080	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32753	2.9;1.51;1.51;1.44;1.94;1.94;2.27	5.8	3.82	0.43975	5.8	3.82	0.43975	.	0.919810	0.09182	N	0.837227	T	0.21468	0.0517	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18561	0.022;0.016	T	0.33471	-0.9867	10	0.13108	T	0.6	-0.3614	3.2157	0.06697	0.1693:0.4034:0.3277:0.0996	.	412;969	F5H5D1;Q92543	.;SNX19_HUMAN	I	969;209;209;137;349;349;412	ENSP00000265909:V969I;ENSP00000433699:V209I;ENSP00000437982:V209I;ENSP00000413345:V137I;ENSP00000435122:V349I;ENSP00000432307:V349I;ENSP00000443480:V412I	ENSP00000265909:V969I	V	-	1	0	0	SNX19	130253601	130253601	0.000000	0.05858	0.066000	0.19879	0.818000	0.46254	-0.194000	0.09559	1.440000	0.47531	0.655000	0.94253	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-5.168288	1	0.170000	NM_014758			20	20		391	385	0		1	0		0	0	96	0		9.999949e-01	9.905288e-01	0	1	0	146	0	20	391
SNX19	399979	broad.mit.edu	37	11	130784879	130784879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130784879G>A	ENST00000265909.4	-	1	1525	c.956C>T	c.(955-957)cCa>cTa	p.P319L	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	319					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			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)		AGAACCCTCTGGCTCACTGTA	0.522																																						ENST00000265909.4	1.000000	0.170000	4.200000e-01	2.300000e-01	0.310000	0.349485	0.310000	0.300000																										0				35						c.(955-957)cCa>cTa		sorting nexin 19							58.0	64.0	62.0					11																	130784879		2201	4297	6498	SO:0001583	missense	399979	0	0					g.chr11:130784879G>A	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.956C>T	chr11.hg19:g.130784879G>A	ENSP00000265909:p.Pro319Leu	0					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L	p.P319L	NM_014758.2	NP_055573	1	2	3	1.991067	Q92543	SNX19_HUMAN		1	1525	-	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)	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	0	1	hg19	c.956C>T	CCDS31721.1	0	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581622	0.13686	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.21	3.28	0.37604	5.21	3.28	0.37604	.	1.460470	0.04065	N	0.306961	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.26935	0.001;0.164	B;B	0.22601	0.002;0.04	T	0.31081	-0.9956	10	0.15066	T	0.55	-0.3415	6.9849	0.24723	0.0947:0.1756:0.7298:0.0	.	319;319	E9PKB9;Q92543	.;SNX19_HUMAN	L	319	ENSP00000265909:P319L;ENSP00000435390:P319L	ENSP00000265909:P319L	P	-	2	0	0	SNX19	130290089	130290089	0.001000	0.12720	0.001000	0.08648	0.374000	0.29953	0.270000	0.18607	0.560000	0.29169	0.644000	0.83932	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.162719	1	0.170000	NM_014758			13	14		491	482	0		1	0		0	0	101	0		9.994922e-01	4.255123e-01	0	0	0	52	0	13	491
SNX19	399979	broad.mit.edu	37	11	130785193	130785193	+	Silent	SNP	G	G	A	rs563508695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	214	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			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)		AATTCACAACGCCACGCGTAT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21990	0.0		0.0	False		,,,				2504	0.001					ENST00000265909.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(640-642)ggC>ggT		sorting nexin 19							42.0	39.0	40.0					11																	130785193		2201	4297	6498	SO:0001819	synonymous_variant	399979	1	121408	29				g.chr11:130785193G>A	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.642C>T	chr11.hg19:g.130785193G>A		0					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G	p.G214G	NM_014758.2	NP_055573	1	2	3	1.991067	Q92543	SNX19_HUMAN		1	1211	-	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)	E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	1	1	hg19	c.642C>T	CCDS31721.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_014758			43	41		187	181	1		1	1		0	0	34	0		1	9.995629e-01	0	14	0	40	0	43	187
NTM	50863	broad.mit.edu	37	11	131781469	131781469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	ENST00000374786.1	+	1	573	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	32					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGCCCGTGCGCAGCGGAGA	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374786.1	1.000000	0.340000	6.700000e-01	4.300000e-01	0.530000	0.558731	0.530000	0.520000																										0				56						c.(94-96)Cgc>Tgc		neurotrimin							87.0	82.0	84.0					11																	131781469		2200	4275	6475	SO:0001583	missense	50863	0	0					g.chr11:131781469C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.94C>T	chr11.hg19:g.131781469C>T	ENSP00000363918:p.Arg32Cys	0		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C	p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	1	2	3	1.991067	Q9P121	NTRI_HUMAN		1	573	+			A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	0	1	hg19	c.94C>T	CCDS8491.1	0	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695433	0.88830	.	.	ENSG00000182667	ENST00000374791;ENST00000436745;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.60672	0.18;0.18;0.19;0.17;0.23;0.2;0.18	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.069171	0.53938	D	0.000044	T	0.70842	0.3270	M	0.71581	2.175	0.58432	D	0.999996	D;P;D;B;D;D	0.69078	0.98;0.918;0.997;0.078;0.98;0.98	P;P;P;B;P;P	0.54924	0.462;0.462;0.761;0.038;0.764;0.764	T	0.74278	-0.3717	10	0.59425	D	0.04	-13.7454	18.896	0.92423	0.0:1.0:0.0:0.0	.	32;23;32;32;32;32	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	32;23;32;23;23;32;32;32	ENSP00000363923:R32C;ENSP00000437668:R32C;ENSP00000448104:R23C;ENSP00000416320:R23C;ENSP00000363918:R32C;ENSP00000396722:R32C;ENSP00000363916:R32C	ENSP00000363916:R32C	R	+	1	0	0	NTM	131286679	131286679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.787000	0.47798	2.479000	0.83701	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	1		2	2	2	0		0	0	79		79	113	1	2.060000	-19.997870	1	0.170000	NM_016522			23	22		494	486	0		1	0		0	0	79	0		9.999992e-01	9.898266e-01	0	0	0	158	0	23	494
NTM	50863	broad.mit.edu	37	11	132016258	132016258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132016258C>A	ENST00000374786.1	+	2	729	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAAGTGGTGCCTGGATCCTCG	0.572																																						ENST00000374786.1	1.000000	0.100000	3.600000e-01	1.600000e-01	0.240000	0.285170	0.240000	0.230000																										0				56						c.(250-252)Ctg>Atg		neurotrimin							181.0	132.0	149.0					11																	132016258		2201	4297	6498	SO:0001583	missense	50863	0	0					g.chr11:132016258C>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.250C>A	chr11.hg19:g.132016258C>A	ENSP00000363918:p.Leu84Met	0					NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M	p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	1	2	3	1.991067	Q9P121	NTRI_HUMAN		2	729	+			A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	0	1	hg19	c.250C>A	CCDS8491.1	0	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850630	0.71719	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.69	5.69	0.88448	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075430	0.56097	D	0.000033	T	0.45377	0.1339	L	0.55213	1.73	0.51767	D	0.999936	D;P;P;P;P;P	0.56968	0.978;0.956;0.599;0.915;0.823;0.752	D;D;P;D;P;P	0.67382	0.951;0.913;0.8;0.913;0.805;0.8	T	0.31420	-0.9944	10	0.42905	T	0.14	-12.2888	8.5217	0.33279	0.1541:0.7641:0.0:0.0818	.	84;75;84;84;84;84	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	84;84;75;75;84;84;84	ENSP00000363923:L84M;ENSP00000437668:L84M;ENSP00000448104:L75M;ENSP00000416320:L75M;ENSP00000363918:L84M;ENSP00000396722:L84M;ENSP00000363916:L84M	ENSP00000363916:L84M	L	+	1	2	2	NTM	131521468	131521468	0.257000	0.24022	1.000000	0.80357	0.999000	0.98932	0.348000	0.20031	2.691000	0.91804	0.655000	0.94253	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-6.917829	1	0.170000	NM_016522			7	7		354	347	0		1	0		0	0	82	0		9.794623e-01	8.969109e-01	0	1	0	205	0	7	354
NTM	50863	broad.mit.edu	37	11	132082001	132082001	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	162	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAACTGGTAGACCAGAGCCTA	0.423																																						ENST00000374786.1	1.000000	0.130000	4.200000e-01	2.000000e-01	0.280000	0.327071	0.280000	0.270000																										0				56						c.(484-486)agA>agG		neurotrimin							141.0	139.0	140.0					11																	132082001		2201	4297	6498	SO:0001819	synonymous_variant	50863	0	0					g.chr11:132082001A>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.486A>G	chr11.hg19:g.132082001A>G		0					NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R	p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	1	2	3	1.991067	Q9P121	NTRI_HUMAN		3	965	+			A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	1	1	hg19	c.486A>G	CCDS8491.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.161458	1	0.170000	NM_016522			8	8		339	333	0		1	0		0	0	86	0		9.888021e-01	9.758468e-01	0	0	0	278	0	8	339
NTM	50863	broad.mit.edu	37	11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.E200K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	200	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567																																						ENST00000374786.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(598-600)Gag>Aag		neurotrimin							96.0	84.0	88.0					11																	132177654		2201	4297	6498	SO:0001583	missense	50863	0	0					g.chr11:132177654G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.598G>A	chr11.hg19:g.132177654G>A	ENSP00000363918:p.Glu200Lys	0					NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K	p.E200K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	1	2	3	1.991067	Q9P121	NTRI_HUMAN		4	1077	+			A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	1	1	hg19	c.598G>A	CCDS8491.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.109459	0.97291	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67345	1.68;1.68;-0.26;1.68;1.68;1.68;1.68	5.78	5.78	0.91487	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042817	0.85682	D	0.000000	T	0.80793	0.4691	M	0.66378	2.025	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	0.987;0.999;0.993;0.999;0.987;0.995	T	0.74200	-0.3742	10	0.22109	T	0.4	-30.012	20.3754	0.98918	0.0:0.0:1.0:0.0	.	200;191;200;200;200;200	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	200;200;191;191;200;200;200	ENSP00000363923:E200K;ENSP00000437668:E200K;ENSP00000448104:E191K;ENSP00000416320:E191K;ENSP00000363918:E200K;ENSP00000396722:E200K;ENSP00000363916:E200K	ENSP00000363916:E200K	E	+	1	0	0	NTM	131682864	131682864	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	9.420000	0.97426	2.894000	0.99253	0.591000	0.81541	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_016522			52	51		218	215	1		1	0		0	0	40	0		1	1	0	0	0	293	0	52	218
OPCML	4978	broad.mit.edu	37	11	132812820	132812820	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000524381.1_Splice_Site	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						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)			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)		CAGCTCCCTACCTGAGGGTGG	0.682																																						ENST00000331898.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.e1+1		opioid binding protein/cell adhesion molecule-like							66.0	67.0	66.0					11																	132812820		2201	4297	6498	SO:0001630	splice_region_variant	4978	0	0					g.chr11:132812820C>T	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.167+1G>A	chr11.hg19:g.132812820C>T		0					OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron		NM_002545.3	NP_002536.1	1	2	3	1.991067	Q14982	OPCM_HUMAN		1	746	-	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)	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Splice_Site	SNP	ENST00000331898.7	1	1	hg19		CCDS8492.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659011	0.88154	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	OPCML	132318030	132318030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	1	0	0		2	2	2	0		0	0	76		76	82	1	2.060000	-20.000000	1	0.170000	NM_001012393	Intron		66	63		392	384	1		1			0	0	76	0		1	0	0	0	0	0	0	66	392
ARNTL	406	broad.mit.edu	37	11	13378325	13378325	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000403290.1	+	6	534		c.e6+1		ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000403510.3_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						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)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398																																						ENST00000403290.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.e6+1		aryl hydrocarbon receptor nuclear translocator-like							141.0	120.0	127.0					11																	13378325		2200	4294	6494	SO:0001630	splice_region_variant	406	0	0					g.chr11:13378325G>A	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.179+1G>A	chr11.hg19:g.13378325G>A		0					ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site				1	2	3	1.993097	O00327	BMAL1_HUMAN		6	534	+			A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	ENST00000403290.1	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010702	0.75046	.	.	ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ARNTL	13334901	13334901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_001178	Intron		56	55		230	227	1		1	1		0	0	42	0		1	1.786722e-01	0	3	0	1	0	56	230
OPCML	4978	broad.mit.edu	37	11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000524381.1_Missense_Mutation_p.N37S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				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)			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)		GACCGTCACGTTGTCCATAGC	0.662																																						ENST00000331898.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(130-132)aAc>aGc		opioid binding protein/cell adhesion molecule-like							63.0	68.0	66.0					11																	132812857		2201	4295	6496	SO:0001583	missense	4978	0	0					g.chr11:132812857T>C	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.131A>G	chr11.hg19:g.132812857T>C	ENSP00000330862:p.Asn44Ser	0					OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	p.N44S	NM_002545.3	NP_002536.1	1	2	3	1.991067	Q14982	OPCM_HUMAN		1	709	-	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)	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	1	1	hg19	c.131A>G	CCDS8492.1	1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887404	0.72410	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.6	5.6	0.85130	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.37785	0.1016	L	0.54863	1.705	0.50632	D	0.999888	P;B;B;P	0.35656	0.514;0.267;0.267;0.502	P;P;P;P	0.46275	0.491;0.491;0.491;0.51	T	0.12682	-1.0538	10	0.49607	T	0.09	-20.4728	15.7888	0.78332	0.0:0.0:0.0:1.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	44;37;3;37;44	ENSP00000330862:N44S;ENSP00000434750:N37S;ENSP00000363910:N3S;ENSP00000445496:N44S	ENSP00000330862:N44S	N	-	2	0	0	OPCML	132318067	132318067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.140000	0.66376	0.533000	0.62120	AAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	1	0	0		2	2	2	0		0	0	92		92	109	1	2.060000	-20.000000	1	0.170000	NM_001012393			85	83		440	433	0		1			0	0	92	0		1	0	0	0	0	0	0	85	440
IGSF9B	22997	broad.mit.edu	37	11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000321016.8	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1160	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3478-3480)Ggc>Agc		immunoglobulin superfamily, member 9B							31.0	35.0	33.0					11																	133790142		1911	4108	6019	SO:0001583	missense	22997	1	119064	30				g.chr11:133790142C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3478G>A	chr11.hg19:g.133790142C>T	ENSP00000317980:p.Gly1160Ser	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S	p.G1160S			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		18	3708	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.3478G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975668	0.34848	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.63417	0.3;-0.04	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.40862	0.1134	N	0.04508	-0.205	0.44323	D	0.997206	B	0.28082	0.2	B	0.20184	0.028	T	0.32348	-0.9910	10	0.28530	T	0.3	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1160	Q9UPX0	TUTLB_HUMAN	S	1160;1002	ENSP00000317980:G1160S;ENSP00000436552:G1002S	ENSP00000317980:G1160S	G	-	1	0	0	IGSF9B	133295352	133295352	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.422000	0.59854	2.358000	0.79984	0.455000	0.32223	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.405817	1	0.170000	XM_290502			88	86		371	368	0		1	1		0	0	69	0		1	2.490639e-01	0	3	0	2	0	88	371
IGSF9B	22997	broad.mit.edu	37	11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000321016.8	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1023	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3067-3069)Agc>Cgc		immunoglobulin superfamily, member 9B							61.0	70.0	67.0					11																	133790553		2083	4219	6302	SO:0001583	missense	22997	0	0					g.chr11:133790553T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3067A>C	chr11.hg19:g.133790553T>G	ENSP00000317980:p.Ser1023Arg	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R	p.S1023R			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		18	3297	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.3067A>C		1	.	.	.	.	.	.	.	.	.	.	t	12.19	1.863010	0.32884	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000060	T	0.63534	0.2519	N	0.14661	0.345	0.35023	D	0.758053	D	0.65815	0.995	D	0.70487	0.969	T	0.72798	-0.4184	10	0.40728	T	0.16	.	14.2931	0.66292	0.0:0.0:0.0:1.0	.	1023	Q9UPX0	TUTLB_HUMAN	R	1023;865	ENSP00000317980:S1023R;ENSP00000436552:S865R	ENSP00000317980:S1023R	S	-	1	0	0	IGSF9B	133295763	133295763	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.600000	0.82769	1.855000	0.53841	0.449000	0.29647	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	XM_290502			101	100		416	409	1		1	1		0	0	71	0		1	3.361555e-01	0	3	0	3	0	101	416
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T	rs371141922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000321016.8	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3010-3012)Gag>Aag		immunoglobulin superfamily, member 9B			LYS/GLU	0,4100		0,0,2050	35.0	40.0	38.0		3010	4.9	0.9	11		38	1,8361		0,1,4180	no	missense	IGSF9B	NM_014987.1	56	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1004/1350	133790610	1,12461	2050	4181	6231	SO:0001583	missense	22997	2	120954	34				g.chr11:133790610C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3010G>A	chr11.hg19:g.133790610C>T	ENSP00000317980:p.Glu1004Lys	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K	p.E1004K			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		18	3240	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.3010G>A		1	.	.	.	.	.	.	.	.	.	.	c	25.2	4.611619	0.87258	0.0	1.2E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.74526	-0.55;-0.85	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000395	T	0.65396	0.2687	L	0.27053	0.805	0.42717	D	0.993663	D	0.56968	0.978	B	0.41894	0.369	T	0.72360	-0.4317	10	0.59425	D	0.04	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	1004	Q9UPX0	TUTLB_HUMAN	K	1004;846	ENSP00000317980:E1004K;ENSP00000436552:E846K	ENSP00000317980:E1004K	E	-	1	0	0	IGSF9B	133295820	133295820	1.000000	0.71417	0.930000	0.37139	0.951000	0.60555	7.350000	0.79385	2.286000	0.76751	0.550000	0.68814	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-2.958716	1	0.170000	XM_290502			61	59		272	268	1		1	1		0	0	59	0		1	7.559345e-01	0	6	0	8	0	61	272
IGSF9B	22997	broad.mit.edu	37	11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000321016.8	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	933	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2797-2799)caG>caT		immunoglobulin superfamily, member 9B							31.0	38.0	36.0					11																	133790821		1970	4131	6101	SO:0001583	missense	22997	0	0					g.chr11:133790821C>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2799G>T	chr11.hg19:g.133790821C>A	ENSP00000317980:p.Gln933His	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H	p.Q933H			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		18	3029	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.2799G>T		1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348126	0.24426	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	4.44	3.52	0.40303	4.44	3.52	0.40303	.	0.000000	0.42420	D	0.000714	T	0.40322	0.1112	N	0.17082	0.46	0.36966	D	0.893595	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.27785	T	0.31	.	6.611	0.22751	0.0:0.7898:0.0:0.2102	.	933	Q9UPX0	TUTLB_HUMAN	H	933;775	ENSP00000317980:Q933H;ENSP00000436552:Q775H	ENSP00000317980:Q933H	Q	-	3	2	2	IGSF9B	133296031	133296031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.509000	0.53386	1.081000	0.41110	0.561000	0.74099	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	XM_290502			80	78		272	268	0		1	1		0	0	56	0		1	3.214704e-01	0	4	0	1	0	80	272
IGSF9B	22997	broad.mit.edu	37	11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000321016.8	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	795					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2383-2385)gaA>gaC		immunoglobulin superfamily, member 9B							23.0	23.0	23.0					11																	133791235		2053	4193	6246	SO:0001583	missense	22997	0	0					g.chr11:133791235T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2385A>C	chr11.hg19:g.133791235T>G	ENSP00000317980:p.Glu795Asp	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D	p.E795D			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		18	2615	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.2385A>C		1	.	.	.	.	.	.	.	.	.	.	T	8.165	0.790320	0.16258	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.47	-0.231	0.13086	4.47	-0.231	0.13086	.	0.000000	0.44902	D	0.000401	T	0.47637	0.1456	L	0.36672	1.1	0.30701	N	0.750329	D	0.56521	0.976	P	0.45232	0.474	T	0.54118	-0.8341	10	0.21540	T	0.41	.	9.1134	0.36741	0.0:0.54:0.0:0.46	.	795	Q9UPX0	TUTLB_HUMAN	D	795;637	ENSP00000317980:E795D;ENSP00000436552:E637D	ENSP00000317980:E795D	E	-	3	2	2	IGSF9B	133296445	133296445	0.984000	0.35163	0.976000	0.42696	0.158000	0.22134	0.228000	0.17814	0.131000	0.18576	-0.337000	0.08149	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	XM_290502			41	40		126	125	1		1	1		0	0	18	0		1	8.612261e-01	0	4	0	9	0	41	126
IGSF9B	22997	broad.mit.edu	37	11	133795814	133795814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000321016.8	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000533871.2_Silent_p.P618P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	618	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617																																						ENST00000321016.8	1.000000	0.930000	1	9.900000e-01	0.990000	0.995603	0.990000	1.000000																										0				44						c.(1852-1854)ccG>ccA		immunoglobulin superfamily, member 9B							36.0	41.0	39.0					11																	133795814		2047	4203	6250	SO:0001819	synonymous_variant	22997	0	0					g.chr11:133795814C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1854G>A	chr11.hg19:g.133795814C>T		0					IGSF9B_ENST00000533871.2_Silent_p.P618P	p.P618P			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		14	2084	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Silent	SNP	ENST00000321016.8	0	1	hg19	c.1854G>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.992950	1	0.170000	XM_290502			13	13		79	76	1		1	1		0	0	15	0		9.995846e-01	7.191086e-01	0	8	0	9	0	13	79
IGSF9B	22997	broad.mit.edu	37	11	133801989	133801989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133801989C>T	ENST00000321016.8	-	8	1317	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	363	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGGGACGGCCGTCCTTGTTC	0.607																																						ENST00000321016.8	1.000000	0.140000	5.900000e-01	2.400000e-01	0.380000	0.425427	0.380000	0.340000																										0				44						c.(1087-1089)Ggc>Agc		immunoglobulin superfamily, member 9B							69.0	86.0	80.0					11																	133801989		2138	4228	6366	SO:0001583	missense	22997	0	0					g.chr11:133801989C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1087G>A	chr11.hg19:g.133801989C>T	ENSP00000317980:p.Gly363Ser	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S	p.G363S			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		8	1317	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	0	1	hg19	c.1087G>A		0	.	.	.	.	.	.	.	.	.	.	C	33	5.279030	0.95489	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	D;D;D	0.81821	-1.54;-1.54;-1.54	4.89	4.89	0.63831	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91064	0.7188	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92249	0.5807	9	0.62326	D	0.03	.	18.2442	0.89979	0.0:1.0:0.0:0.0	.	363	Q9UPX0	TUTLB_HUMAN	S	363;205;363	ENSP00000317980:G363S;ENSP00000436552:G205S;ENSP00000436576:G363S	ENSP00000317980:G363S	G	-	1	0	0	IGSF9B	133307199	133307199	1.000000	0.71417	0.985000	0.45067	0.654000	0.38779	7.648000	0.83479	2.535000	0.85469	0.556000	0.70494	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-7.098041	1	0.170000	XM_290502			5	5		164	160	0		1	0		0	0	38	0		9.344931e-01	6.969864e-02	0	0	0	12	0	5	164
IGSF9B	22997	broad.mit.edu	37	11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000321016.8	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCAGAGCGAACTTGTTC	0.562																																						ENST00000321016.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999338	0.990000	1.000000																										0				44						c.(310-312)cGc>cAc		immunoglobulin superfamily, member 9B							84.0	89.0	87.0					11																	133814213		2054	4213	6267	SO:0001583	missense	22997	1	120982	20				g.chr11:133814213C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.311G>A	chr11.hg19:g.133814213C>T	ENSP00000317980:p.Arg104His	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H	p.R104H			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		3	541	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	1	1	hg19	c.311G>A		1	.	.	.	.	.	.	.	.	.	.	C	32	5.131947	0.94473	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	5.69	0.88448	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.83008	0.5161	M	0.79258	2.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.73380	0.98	D	0.84370	0.0543	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	104	Q9UPX0	TUTLB_HUMAN	H	104;104;94;151	ENSP00000317980:R104H;ENSP00000436576:R104H;ENSP00000434026:R94H;ENSP00000435989:R151H	ENSP00000317980:R104H	R	-	2	0	0	IGSF9B	133319423	133319423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.819000	0.62664	2.688000	0.91661	0.563000	0.77884	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	XM_290502			24	23		149	141	1		1	1		0	0	40	0		9.999996e-01	5.218304e-01	0	5	0	7	0	24	149
IGSF9B	22997	broad.mit.edu	37	11	133815997	133815997	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	ENST00000321016.8	-	2	451	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	74	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTAGCCAAACTTGATGAAGAT	0.617																																						ENST00000321016.8	1.000000	0.540000	1	8.100000e-01	0.990000	0.934361	0.990000	1.000000																										0				44						c.(220-222)aAg>aCg		immunoglobulin superfamily, member 9B							53.0	64.0	61.0					11																	133815997		2106	4210	6316	SO:0001583	missense	22997	0	0					g.chr11:133815997T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.221A>C	chr11.hg19:g.133815997T>G	ENSP00000317980:p.Lys74Thr	0					IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T	p.K74T			1	2	3	1.991067	Q9UPX0	TUTLB_HUMAN		2	451	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	0	1	hg19	c.221A>C		1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886483	0.91814	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.68	5.68	0.88126	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073665	0.51477	D	0.000096	T	0.65133	0.2662	L	0.28458	0.855	0.42028	D	0.991012	P	0.43662	0.814	P	0.55508	0.777	T	0.62506	-0.6840	10	0.28530	T	0.3	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	74	Q9UPX0	TUTLB_HUMAN	T	74;74;64;121	ENSP00000317980:K74T;ENSP00000436576:K74T;ENSP00000434026:K64T;ENSP00000435989:K121T	ENSP00000317980:K74T	K	-	2	0	0	IGSF9B	133321207	133321207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.938000	0.87678	2.175000	0.68902	0.533000	0.62120	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-12.953520	1	0.170000	XM_290502			7	7		64	62	0		1	0		0	0	16	0		9.805249e-01	2.608542e-01	0	1	0	8	0	7	64
NCAPD3	23310	broad.mit.edu	37	11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(3514-3516)gaT>gaG		non-SMC condensin II complex, subunit D3							254.0	215.0	228.0					11																	134037948		2201	4297	6498	SO:0001583	missense	23310	0	0					g.chr11:134037948A>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3516T>G	chr11.hg19:g.134037948A>C	ENSP00000433681:p.Asp1172Glu	0						p.D1172E	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		27	3580	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	1	1	hg19	c.3516T>G	CCDS31723.1	1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.197632	0.38806	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-2.34	0.06704	5.5	-2.34	0.06704	Armadillo-type fold (1);	0.284386	0.43260	N	0.000584	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	B;B	0.21688	0.032;0.059	B;B	0.19666	0.026;0.017	T	0.08576	-1.0715	10	0.15952	T	0.53	-12.4742	6.7877	0.23682	0.5433:0.1244:0.3322:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	E	1172;77;208	ENSP00000433681:D1172E;ENSP00000432532:D77E;ENSP00000435173:D208E	ENSP00000432532:D77E	D	-	3	2	2	NCAPD3	133543158	133543158	0.988000	0.35896	0.856000	0.33681	0.856000	0.48823	0.370000	0.20433	-0.722000	0.04922	0.473000	0.43528	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_015261			118	116		551	543	1		1	1		0	0	115	0		1	9.989246e-01	0	11	0	38	0	118	551
NCAPD3	23310	broad.mit.edu	37	11	134055268	134055268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	733					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2197-2199)gaC>gaT		non-SMC condensin II complex, subunit D3							64.0	61.0	62.0					11																	134055268		2201	4296	6497	SO:0001819	synonymous_variant	23310	1	121408	31				g.chr11:134055268G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2199C>T	chr11.hg19:g.134055268G>A		0					RP11-700F16.3_ENST00000531710.1_RNA	p.D733D	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		17	2263	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	1	1	hg19	c.2199C>T	CCDS31723.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_015261			43	41		132	131	1		1	1		0	0	36	0		1	9.990151e-01	0	8	0	28	0	43	132
NCAPD3	23310	broad.mit.edu	37	11	134073691	134073691	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	442					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1324-1326)aaG>aaA		non-SMC condensin II complex, subunit D3							85.0	87.0	87.0					11																	134073691		2201	4297	6498	SO:0001819	synonymous_variant	23310	0	0					g.chr11:134073691C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1326G>A	chr11.hg19:g.134073691C>T		0						p.K442K	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		11	1390	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	1	1	hg19	c.1326G>A	CCDS31723.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_015261			90	88		363	355	1		1	1		0	0	86	0		1	8.546683e-01	0	5	0	11	0	90	363
NCAPD3	23310	broad.mit.edu	37	11	134074865	134074865	+	Splice_Site	SNP	C	C	T	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	340					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1018-1020)Gcc>Acc		non-SMC condensin II complex, subunit D3							119.0	119.0	119.0					11																	134074865		2201	4297	6498	SO:0001630	splice_region_variant	23310	2	121412	36				g.chr11:134074865C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1017-1G>A	chr11.hg19:g.134074865C>T		0						p.A340T	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		9	1082	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	1	0	hg19	c.1018G>A	CCDS31723.1	1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329475	0.24167	.	.	ENSG00000151503	ENST00000534548	T	0.04706	3.57	5.54	3.17	0.36434	5.54	3.17	0.36434	Armadillo-type fold (1);	0.659510	0.16079	N	0.230607	T	0.03011	0.0089	N	0.08118	0	0.31644	N	0.647619	B	0.19445	0.036	B	0.11329	0.006	T	0.29640	-1.0005	10	0.22706	T	0.39	-1.2962	12.446	0.55651	0.7319:0.268:0.0:0.0	.	340	P42695	CNDD3_HUMAN	T	340	ENSP00000433681:A340T	ENSP00000431612:A340T	A	-	1	0	0	NCAPD3	133580075	133580075	0.978000	0.34361	0.053000	0.19242	0.026000	0.11368	2.460000	0.45031	0.366000	0.24427	-0.364000	0.07487	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_015261	Missense_Mutation		56	55		308	301	1		1	1		0	0	73	0		1	9.315112e-01	0	4	0	23	0	56	308
NCAPD3	23310	broad.mit.edu	37	11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A	rs544195866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	334					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1000-1002)gCg>gTg		non-SMC condensin II complex, subunit D3							138.0	125.0	130.0					11																	134076509		2201	4297	6498	SO:0001583	missense	23310	8	121412	41				g.chr11:134076509G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1001C>T	chr11.hg19:g.134076509G>A	ENSP00000433681:p.Ala334Val	0						p.A334V	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		8	1065	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	1	1	hg19	c.1001C>T	CCDS31723.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704144	0.88924	.	.	ENSG00000151503	ENST00000534548	T	0.09163	3.01	5.67	5.67	0.87782	5.67	5.67	0.87782	Armadillo-type fold (1);	0.098779	0.64402	D	0.000001	T	0.34571	0.0902	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00569	-1.1666	10	0.48119	T	0.1	-20.4282	20.1313	0.98000	0.0:0.0:1.0:0.0	.	334	P42695	CNDD3_HUMAN	V	334	ENSP00000433681:A334V	ENSP00000431612:A334V	A	-	2	0	0	NCAPD3	133581719	133581719	0.999000	0.42202	0.721000	0.30653	0.749000	0.42624	5.099000	0.64554	2.837000	0.97791	0.655000	0.94253	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1		17	2	2	0		0	1	106		106	104	1	2.060000	-3.410333	1	0.170000	NM_015261			97	95		407	394	1		1	1		0	0	106	0		1	9.963991e-01	0	13	0	25	0	97	407
NCAPD3	23310	broad.mit.edu	37	11	134079098	134079098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	245					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358																																						ENST00000534548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(733-735)gtC>gtT		non-SMC condensin II complex, subunit D3							116.0	130.0	125.0					11																	134079098		2201	4297	6498	SO:0001819	synonymous_variant	23310	0	0					g.chr11:134079098G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.735C>T	chr11.hg19:g.134079098G>A		0						p.V245V	NM_015261.2	NP_056076.1	1	2	3	1.991067	P42695	CNDD3_HUMAN		6	799	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	1	1	hg19	c.735C>T	CCDS31723.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_015261			145	144		652	647	1		1	1		0	0	146	0		1	8.411316e-01	0	4	0	13	0	145	652
VPS26B	112936	broad.mit.edu	37	11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(457-459)agC>agA		vacuolar protein sorting 26 homolog B (S. pombe)							190.0	159.0	170.0					11																	134109963		2201	4297	6498	SO:0001583	missense	112936	0	0					g.chr11:134109963C>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>A	chr11.hg19:g.134109963C>A	ENSP00000281187:p.Ser153Arg	0					VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	p.S153R	NM_052875.3	NP_443107.1	1	2	3	1.991067	Q4G0F5	VP26B_HUMAN		3	937	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	Q96A55	Missense_Mutation	SNP	ENST00000281187.5	1	1	hg19	c.459C>A	CCDS8495.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494802	0.44352	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.60012	1.86	0.80722	D	1	P	0.51449	0.945	P	0.57548	0.823	T	0.03597	-1.1021	10	0.17832	T	0.49	-4.0493	19.3065	0.94164	0.0:1.0:0.0:0.0	.	153	Q4G0F5	VP26B_HUMAN	R	153;152	ENSP00000281187:S153R	ENSP00000281187:S153R	S	+	3	2	2	VPS26B	133615173	133615173	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.031000	0.57267	2.570000	0.86706	0.650000	0.86243	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_052875			67	65		322	312	1		1	1		0	0	72	0		1	1	0	37	0	137	0	67	322
VPS26B	112936	broad.mit.edu	37	11	134113076	134113076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000525095.2_Silent_p.K203K|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	203					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				14						c.(607-609)aaG>aaA		vacuolar protein sorting 26 homolog B (S. pombe)							146.0	124.0	132.0					11																	134113076		2201	4297	6498	SO:0001819	synonymous_variant	112936	0	0					g.chr11:134113076G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.609G>A	chr11.hg19:g.134113076G>A		0					VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	p.K203K	NM_052875.3	NP_443107.1	1	2	3	1.991067	Q4G0F5	VP26B_HUMAN		4	1087	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	Q96A55	Silent	SNP	ENST00000281187.5	1	1	hg19	c.609G>A	CCDS8495.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_052875			51	51		305	301	1		1	1		0	0	59	0		1	1	0	41	0	186	0	51	305
VPS26B	112936	broad.mit.edu	37	11	134115478	134115478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	ENST00000281187.5	+	6	1483	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	VPS26B_ENST00000525095.2_Silent_p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	335					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACAACTGCAGGCAGTAGGCCC	0.682																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.992726	0.990000	1.000000																										0				14						c.(1003-1005)agG>agA		vacuolar protein sorting 26 homolog B (S. pombe)							27.0	25.0	26.0					11																	134115478		2201	4296	6497	SO:0001819	synonymous_variant	112936	0	0					g.chr11:134115478G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.1005G>A	chr11.hg19:g.134115478G>A		0					VPS26B_ENST00000525095.2_Silent_p.R335R	p.R335R	NM_052875.3	NP_443107.1	1	2	3	1.991067	Q4G0F5	VP26B_HUMAN		6	1483	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	Q96A55	Silent	SNP	ENST00000281187.5	0	1	hg19	c.1005G>A	CCDS8495.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	0	0	1		2	14	2	1		1	0	19		19	19	1	2.060000	-19.999960	1	0.170000	NM_052875			15	15		105	104	0		1	1		1	0	19	0		9.999022e-01	3.336997e-01	0	20	0	71	0	15	105
ACAD8	27034	broad.mit.edu	37	11	134123498	134123498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	THYN1_ENST00000341541.3_5'Flank|ACAD8_ENST00000543332.1_5'UTR|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392595.2_5'Flank|THYN1_ENST00000392594.3_5'Flank|ACAD8_ENST00000537423.1_5'UTR|THYN1_ENST00000352327.5_5'Flank|ACAD8_ENST00000374752.4_Silent_p.L2L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	2					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)			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)	GGCGGCTATGCTGTGGAGCGG	0.706																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997944	0.990000	1.000000																										0				14						c.(4-6)Ctg>Ttg		acyl-CoA dehydrogenase family, member 8	Flavin adenine dinucleotide(DB03147)						5.0	7.0	6.0					11																	134123498		1995	3919	5914	SO:0001819	synonymous_variant	27034	0	0					g.chr11:134123498C>T	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.4C>T	chr11.hg19:g.134123498C>T		0					ACAD8_ENST00000537423.1_5'UTR|THYN1_ENST00000352327.5_5'Flank|THYN1_ENST00000392595.2_5'Flank|ACAD8_ENST00000374752.4_Silent_p.L2L|THYN1_ENST00000392594.3_5'Flank|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000341541.3_5'Flank|ACAD8_ENST00000543332.1_5'UTR	p.L2L	NM_014384.2	NP_055199.1	1	2	3	1.991067	Q9UKU7	ACAD8_HUMAN		1	110	+	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)	B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	0	1	hg19	c.4C>T	CCDS8498.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	1	0	0		2	2	2	0		0	0	8		8	4	1	2.060000	-19.611520	1	0.170000	NM_014384			10	7		43	36	0		1			0	0	8	0		9.937448e-01	0	0	0	0	0	0	10	43
GLB1L3	112937	broad.mit.edu	37	11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			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)		TCCCTGGAGGGCTTTACCATC	0.483																																						ENST00000431683.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998983	0.990000	1.000000																										0				13						c.(1621-1623)gGc>gAc		galactosidase, beta 1-like 3							83.0	79.0	80.0					11																	134183877		1900	4123	6023	SO:0001583	missense	112937	0	0					g.chr11:134183877G>A		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.1622G>A	chr11.hg19:g.134183877G>A	ENSP00000396615:p.Gly541Asp	0						p.G541D	NM_001080407.2	NP_001073876.2	1	2	3	1.991067	Q8NCI6	GLBL3_HUMAN		17	1622	+	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)	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	1	1	hg19	c.1622G>A	CCDS44780.1	1	.	.	.	.	.	.	.	.	.	.	G	1.367	-0.587026	0.03827	.	.	ENSG00000166105	ENST00000431683	D	0.95069	-3.6	4.78	-5.28	0.02755	4.78	-5.28	0.02755	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.87892	0.6292	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78091	-0.2339	10	0.11485	T	0.65	.	9.6803	0.40065	0.7087:0.1231:0.1682:0.0	.	541	Q8NCI6	GLBL3_HUMAN	D	541	ENSP00000396615:G541D	ENSP00000396615:G541D	G	+	2	0	0	GLB1L3	133689087	133689087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.990000	0.03481	-0.471000	0.05019	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_138416			16	16		86	83	1		1			0	0	23	0		9.999469e-01	0	0	0	0	0	0	16	86
GLB1L2	89944	broad.mit.edu	37	11	134238539	134238539	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	297					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCGGCAGAGGTTTTGAAAA	0.542																																						ENST00000535456.2	1.000000	0.640000	1	7.700000e-01	0.910000	0.895930	0.910000	1.000000																										0				41						c.(889-891)gaG>gaT		galactosidase, beta 1-like 2							72.0	72.0	72.0					11																	134238539		2201	4297	6498	SO:0001630	splice_region_variant	89944	0	0					g.chr11:134238539G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.890-1G>T	chr11.hg19:g.134238539G>T		0					GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	p.E297D	NM_138342.3	NP_612351.2	1	2	3	1.991067	Q8IW92	GLBL2_HUMAN		10	1079	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	1	0	hg19	c.891G>T	CCDS31724.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.302|3.302	-0.142586|-0.142586	0.06669|0.06669	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.97752|.	-4.52;-4.52;-4.52|.	5.19|5.19	0.61|0.61	0.17580|0.17580	5.19|5.19	0.61|0.61	0.17580|0.17580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.220925|.	0.46442|.	D|.	0.000296|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.05351|0.05351	-0.065|-0.065	0.32055|0.32055	N|N	0.596416|0.596416	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.17832|.	T|.	0.49|.	.|.	5.6384|5.6384	0.17550|0.17550	0.2586:0.0:0.5583:0.1832|0.2586:0.0:0.5583:0.1832	.|.	297|.	Q8IW92|.	GLBL2_HUMAN|.	D|C	297|236;125	ENSP00000344659:E297D;ENSP00000444628:E297D;ENSP00000374531:E297D|.	ENSP00000344659:E297D|.	E|G	+|+	3|1	2|0	2|0	GLB1L2|GLB1L2	133743749|133743749	133743749|133743749	0.304000|0.304000	0.24472|0.24472	0.910000|0.910000	0.35882|0.35882	0.196000|0.196000	0.23810|0.23810	-0.606000|-0.606000	0.05654|0.05654	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAG|GGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.017764	1	0.170000	NM_138342	Missense_Mutation		34	33		408	398	0		1	1		0	0	78	0		1	9.572657e-01	0	12	0	52	0	34	408
RIC8A	60626	broad.mit.edu	37	11	209565	209565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.D97D|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000527696.1_Silent_p.D91D|BET1L_ENST00000410108.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	97					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)			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)		GCTATGCTGACATCTCTGTCT	0.612																																						ENST00000526104.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(289-291)gaC>gaT		RIC8 guanine nucleotide exchange factor A							58.0	57.0	58.0					11																	209565		2203	4300	6503	SO:0001819	synonymous_variant	60626	0	0					g.chr11:209565C>T	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.291C>T	chr11.hg19:g.209565C>T		0					BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000527696.1_Silent_p.D91D|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000382762.3_5'Flank|RIC8A_ENST00000325207.5_Silent_p.D97D|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank	p.D97D			1	2	3	1.993097	Q9NPQ8	RIC8A_HUMAN		3	1635	+		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)	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	1	1	hg19	c.291C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.812355	1	0.170000	NM_021932			61	61		230	226	1		1	1		0	0	52	0		1	1	0	74	0	193	0	61	230
ATHL1	80162	broad.mit.edu	37	11	290822	290822	+	Silent	SNP	C	C	T	rs564622719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409548.2	+	4	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	ATHL1_ENST00000409479.1_Silent_p.G205G|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409655.1_Silent_p.G28G	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	205					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCAGTGGGCGGCAGCCAGG	0.652																																						ENST00000409548.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(613-615)ggC>ggT		ATH1, acid trehalase-like 1 (yeast)							47.0	46.0	47.0					11																	290822		2203	4300	6503	SO:0001819	synonymous_variant	80162	1	121326	35				g.chr11:290822C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.615C>T	chr11.hg19:g.290822C>T		0					RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409655.1_Silent_p.G28G|ATHL1_ENST00000409479.1_Silent_p.G205G|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	p.G205G	NM_025092.4	NP_079368.3	1	2	3	1.993097	Q32M88	ATHL1_HUMAN		4	730	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	1	1	hg19	c.615C>T	CCDS31322.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.056471	1	0.170000	NM_025092			74	73		259	256	1		1	1		0	0	61	0		1	9.957697e-01	0	10	0	22	0	74	259
B4GALNT4	338707	broad.mit.edu	37	11	373496	373496	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	228					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				24						c.(682-684)tcC>tcA		beta-1,4-N-acetyl-galactosaminyl transferase 4							84.0	87.0	86.0					11																	373496		2197	4297	6494	SO:0001819	synonymous_variant	338707	0	0					g.chr11:373496C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.684C>A	chr11.hg19:g.373496C>A		0						p.S228S	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		7	684	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Silent	SNP	ENST00000329962.6	1	1	hg19	c.684C>A	CCDS7694.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-2.920856	1	0.170000	NM_178537			60	60		425	417	1		1	1		0	0	103	0		1	8.732842e-01	0	7	0	21	0	60	425
B4GALNT4	338707	broad.mit.edu	37	11	373509	373509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	233					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999896	0.990000	1.000000																										0				24						c.(697-699)Ccc>Tcc		beta-1,4-N-acetyl-galactosaminyl transferase 4							85.0	90.0	89.0					11																	373509		2196	4298	6494	SO:0001583	missense	338707	0	0					g.chr11:373509C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.697C>T	chr11.hg19:g.373509C>T	ENSP00000328277:p.Pro233Ser	0						p.P233S	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		7	697	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	1	1	hg19	c.697C>T	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166235	0.57476	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.23	4.23	0.50019	4.23	4.23	0.50019	PA14 (2);	0.320979	0.28901	N	0.013763	T	0.30166	0.0756	L	0.48877	1.53	0.44352	D	0.997242	D	0.52996	0.957	P	0.50490	0.642	T	0.07309	-1.0779	10	0.56958	D	0.05	-25.8667	17.1578	0.86796	0.0:1.0:0.0:0.0	.	233	Q76KP1	B4GN4_HUMAN	S	233	ENSP00000328277:P233S	ENSP00000328277:P233S	P	+	1	0	0	B4GALNT4	363509	363509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.864000	0.39469	2.337000	0.79520	0.462000	0.41574	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0		2	2	2	0		0	0	113		113	113	1	2.060000	-19.999810	1	0.170000	NM_178537			63	62		461	450	1		1	1		0	0	113	0		1	8.881457e-01	0	8	0	22	0	63	461
B4GALNT4	338707	broad.mit.edu	37	11	375875	375875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	338					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				24						c.(1012-1014)gaG>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 4							37.0	29.0	32.0					11																	375875		2189	4294	6483	SO:0001583	missense	338707	0	0					g.chr11:375875G>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1014G>T	chr11.hg19:g.375875G>T	ENSP00000328277:p.Glu338Asp	0						p.E338D	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		11	1014	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	1	1	hg19	c.1014G>T	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158463	0.38119	.	.	ENSG00000182272	ENST00000329962	T	0.73897	-0.79	3.61	2.69	0.31865	3.61	2.69	0.31865	.	0.912273	0.09321	N	0.818214	T	0.67915	0.2944	L	0.58101	1.795	0.39391	D	0.966419	B	0.27351	0.176	B	0.22386	0.039	T	0.63116	-0.6709	10	0.44086	T	0.13	-35.4561	7.1343	0.25519	0.0955:0.173:0.7315:0.0	.	338	Q76KP1	B4GN4_HUMAN	D	338	ENSP00000328277:E338D	ENSP00000328277:E338D	E	+	3	2	2	B4GALNT4	365875	365875	1.000000	0.71417	0.758000	0.31321	0.632000	0.37999	3.133000	0.50531	0.852000	0.35287	0.491000	0.48974	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_178537			25	24		101	98	0		1	1		0	0	20	0		9.999999e-01	9.882955e-01	0	10	0	22	0	25	101
B4GALNT4	338707	broad.mit.edu	37	11	376150	376150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	391					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				24						c.(1171-1173)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							29.0	28.0	29.0					11																	376150		2201	4290	6491	SO:0001583	missense	338707	0	0					g.chr11:376150G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1172G>A	chr11.hg19:g.376150G>A	ENSP00000328277:p.Arg391His	0						p.R391H	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		12	1172	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	1	1	hg19	c.1172G>A	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.520086	0.85495	.	.	ENSG00000182272	ENST00000329962	T	0.72615	-0.67	3.01	3.01	0.34805	3.01	3.01	0.34805	.	0.137013	0.44688	D	0.000430	T	0.79953	0.4535	L	0.55990	1.75	0.49213	D	0.999765	D	0.89917	1.0	D	0.80764	0.994	T	0.83037	-0.0159	10	0.72032	D	0.01	-20.3149	15.2295	0.73374	0.0:0.0:1.0:0.0	.	391	Q76KP1	B4GN4_HUMAN	H	391	ENSP00000328277:R391H	ENSP00000328277:R391H	R	+	2	0	0	B4GALNT4	366150	366150	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	5.187000	0.65087	1.978000	0.57642	0.436000	0.28706	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_178537			37	37		188	182	0		1	1		0	0	37	0		1	9.945920e-01	0	16	0	28	0	37	188
B4GALNT4	338707	broad.mit.edu	37	11	377173	377173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	ENST00000329962.6	+	14	2050	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	684					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACTGGCAGCGCACGTTCAG	0.726																																						ENST00000329962.6	1.000000	0.880000	1	9.900000e-01	0.990000	0.992877	0.990000	1.000000																										0				24						c.(2050-2052)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							10.0	8.0	8.0					11																	377173		2048	4072	6120	SO:0001583	missense	338707	0	0					g.chr11:377173C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2050C>T	chr11.hg19:g.377173C>T	ENSP00000328277:p.Arg684Cys	0						p.R684C	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		14	2050	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	0	1	hg19	c.2050C>T	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719105	0.68844	.	.	ENSG00000182272	ENST00000329962	T	0.08546	3.08	3.52	3.52	0.40303	3.52	3.52	0.40303	.	0.065101	0.56097	D	0.000032	T	0.23611	0.0571	M	0.63428	1.95	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	T	0.00964	-1.1498	10	0.87932	D	0	-27.6998	11.936	0.52874	0.25:0.75:0.0:0.0	.	684	Q76KP1	B4GN4_HUMAN	C	684	ENSP00000328277:R684C	ENSP00000328277:R684C	R	+	1	0	0	B4GALNT4	367173	367173	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.794000	0.38774	1.974000	0.57490	0.436000	0.28706	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-16.457450	1	0.170000	NM_178537			8	8		40	40	0		1	1		0	0	10	0		9.915054e-01	2.273485e-01	0	2	0	3	0	8	40
B4GALNT4	338707	broad.mit.edu	37	11	377297	377297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	725					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701																																						ENST00000329962.6	1.000000	0.850000	1	9.900000e-01	0.990000	0.991112	0.990000	1.000000																										0				24						c.(2173-2175)tAc>tGc		beta-1,4-N-acetyl-galactosaminyl transferase 4							14.0	9.0	11.0					11																	377297		2041	4043	6084	SO:0001583	missense	338707	0	0					g.chr11:377297A>G	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2174A>G	chr11.hg19:g.377297A>G	ENSP00000328277:p.Tyr725Cys	0						p.Y725C	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		14	2174	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	0	1	hg19	c.2174A>G	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044333	0.36085	.	.	ENSG00000182272	ENST00000329962	T	0.15139	2.45	3.28	3.28	0.37604	3.28	3.28	0.37604	.	0.081321	0.51477	D	0.000094	T	0.37376	0.1001	M	0.68952	2.095	0.41763	D	0.98972	D	0.76494	0.999	D	0.81914	0.995	T	0.28744	-1.0034	10	0.72032	D	0.01	-27.5924	12.0889	0.53713	1.0:0.0:0.0:0.0	.	725	Q76KP1	B4GN4_HUMAN	C	725	ENSP00000328277:Y725C	ENSP00000328277:Y725C	Y	+	2	0	0	B4GALNT4	367297	367297	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.606000	0.54095	1.508000	0.48769	0.172000	0.16884	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0		2	2	2	0		0	0	8		8	6	1	2.060000	-19.986320	1	0.170000	NM_178537			9	9		52	50	0		1	1		0	0	8	0		9.946245e-01	6.971154e-02	0	2	0	1	0	9	52
B4GALNT4	338707	broad.mit.edu	37	11	380400	380400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	942				V -> M (in Ref. 2; BAB71566). {ECO:0000305}.	metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2824-2826)Gtg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 4							48.0	36.0	40.0					11																	380400		2203	4296	6499	SO:0001583	missense	338707	0	0					g.chr11:380400G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2824G>A	chr11.hg19:g.380400G>A	ENSP00000328277:p.Val942Met	0						p.V942M	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		18	2824	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	1	1	hg19	c.2824G>A	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	g	9.285	1.049146	0.19827	.	.	ENSG00000182272	ENST00000329962	T	0.20332	2.08	3.81	3.81	0.43845	3.81	3.81	0.43845	.	0.060502	0.64402	D	0.000008	T	0.09379	0.0231	N	0.12182	0.205	0.37812	D	0.928063	P	0.41524	0.753	B	0.40477	0.33	T	0.17137	-1.0379	10	0.12430	T	0.62	-32.6499	4.8054	0.13317	0.2853:0.0:0.7147:0.0	.	942	Q76KP1	B4GN4_HUMAN	M	942	ENSP00000328277:V942M	ENSP00000328277:V942M	V	+	1	0	0	B4GALNT4	370400	370400	1.000000	0.71417	0.915000	0.36163	0.751000	0.42716	5.998000	0.70653	2.118000	0.64928	0.561000	0.74099	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_178537			40	38		133	131	1		1	1		0	0	32	0		1	9.983035e-01	0	19	0	17	0	40	133
B4GALNT4	338707	broad.mit.edu	37	11	380410	380410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	ENST00000329962.6	+	18	2834	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	945					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCATGCGCCTGAGCTGC	0.682																																						ENST00000329962.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				24						c.(2833-2835)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							41.0	32.0	35.0					11																	380410		2203	4295	6498	SO:0001583	missense	338707	0	0					g.chr11:380410G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2834G>A	chr11.hg19:g.380410G>A	ENSP00000328277:p.Arg945His	0						p.R945H	NM_178537.4	NP_848632.2	1	2	3	1.993097	Q76KP1	B4GN4_HUMAN		18	2834	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	0	1	hg19	c.2834G>A	CCDS7694.1	1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.633137	0.87660	.	.	ENSG00000182272	ENST00000329962	T	0.15487	2.42	3.81	3.81	0.43845	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.88450	2.955	0.50039	D	0.99984	D	0.89917	1.0	D	0.85130	0.997	T	0.61903	-0.6967	10	0.72032	D	0.01	-25.972	16.2551	0.82510	0.0:0.0:1.0:0.0	.	945	Q76KP1	B4GN4_HUMAN	H	945	ENSP00000328277:R945H	ENSP00000328277:R945H	R	+	2	0	0	B4GALNT4	370410	370410	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.399000	0.97285	2.118000	0.64928	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	0	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_178537			26	26		108	106	0		1	1		0	0	26	0		1	9.975582e-01	0	16	0	26	0	26	108
PKP3	11187	broad.mit.edu	37	11	396980	396980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	160					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721																																						ENST00000331563.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(478-480)aGg>aAg		plakophilin 3							13.0	16.0	15.0					11																	396980		2171	4264	6435	SO:0001583	missense	11187	0	0					g.chr11:396980G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.479G>A	chr11.hg19:g.396980G>A	ENSP00000331678:p.Arg160Lys	0					PKP3_ENST00000530695.1_3'UTR	p.R160K	NM_007183.2	NP_009114.1	1	2	3	1.993097	Q9Y446	PKP3_HUMAN		3	555	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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)	F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	1	1	hg19	c.479G>A	CCDS7695.1	1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282506	0.59867	.	.	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80994	-1.44	3.03	3.03	0.35002	3.03	3.03	0.35002	.	1.122620	0.06787	N	0.786346	T	0.78861	0.4350	L	0.50333	1.59	0.35502	D	0.799911	P	0.48764	0.915	B	0.44224	0.444	T	0.75614	-0.3257	10	0.25751	T	0.34	-26.2681	13.4207	0.60996	0.0:0.0:1.0:0.0	.	160	Q9Y446	PKP3_HUMAN	K	4;4;4;4;160;102	ENSP00000331678:R160K	ENSP00000331678:R160K	R	+	2	0	0	PKP3	386980	386980	1.000000	0.71417	0.958000	0.39756	0.315000	0.28087	1.481000	0.35476	2.007000	0.58848	0.457000	0.33378	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_007183			42	42		131	130	0		1	1		0	0	32	0		1	1	0	48	0	41	0	42	131
PKP3	11187	broad.mit.edu	37	11	399008	399008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	362					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612																																						ENST00000331563.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(1084-1086)gCc>gTc		plakophilin 3							96.0	83.0	88.0					11																	399008		2199	4292	6491	SO:0001583	missense	11187	0	0					g.chr11:399008C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1085C>T	chr11.hg19:g.399008C>T	ENSP00000331678:p.Ala362Val	0						p.A362V	NM_007183.2	NP_009114.1	1	2	3	1.993097	Q9Y446	PKP3_HUMAN		5	1161	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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)	F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	1	1	hg19	c.1085C>T	CCDS7695.1	1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731141	0.48939	.	.	ENSG00000184363	ENST00000331563	T	0.70282	-0.47	3.99	3.99	0.46301	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.067408	0.64402	D	0.000018	T	0.74298	0.3698	N	0.25647	0.755	0.49130	D	0.999757	D	0.69078	0.997	D	0.65140	0.932	T	0.79347	-0.1841	10	0.87932	D	0	-9.5982	16.4754	0.84131	0.0:1.0:0.0:0.0	.	362	Q9Y446	PKP3_HUMAN	V	362	ENSP00000331678:A362V	ENSP00000331678:A362V	A	+	2	0	0	PKP3	389008	389008	1.000000	0.71417	0.891000	0.34965	0.225000	0.24961	4.398000	0.59697	1.968000	0.57251	0.486000	0.48141	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_007183			57	56		335	329	1		1	1		0	0	86	0		1	1	0	257	0	233	0	57	335
SIGIRR	59307	broad.mit.edu	37	11	405971	405971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000431843.2	-	10	1464	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	386					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617																																						ENST00000431843.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				13						c.(1156-1158)gaC>gaT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							51.0	42.0	45.0					11																	405971		2200	4293	6493	SO:0001819	synonymous_variant	59307	1	120712	25				g.chr11:405971G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1158C>T	chr11.hg19:g.405971G>A		0					SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D	p.D386D	NM_001135054.1	NP_001128526.1	1	2	3	1.993097	Q6IA17	SIGIR_HUMAN		10	1464	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	1	1	hg19	c.1158C>T	CCDS31325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.29|15.29	2.788298|2.788298	0.49997|0.49997	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.04317|.	3.65;3.65|.	3.54|3.54	-0.934|-0.934	0.10428|0.10428	3.54|3.54	-0.934|-0.934	0.10428|0.10428	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	.|.	.|.	.|.	0.29424|0.29424	N|N	0.860311|0.860311	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.36915|0.36915	-0.9728|-0.9728	8|4	0.87932|.	D|.	0|.	.|.	7.8452|7.8452	0.29421|0.29421	0.4184:0.0:0.5816:0.0|0.4184:0.0:0.5816:0.0	.|.	483|.	C9JFX4|.	.|.	C|M	483|118	ENSP00000433022:R483C;ENSP00000371960:R483C|.	ENSP00000371960:R483C|.	R|T	-|-	1|2	0|0	0|0	SIGIRR|SIGIRR	395971|395971	395971|395971	0.004000|0.004000	0.15560|0.15560	0.936000|0.936000	0.37596|0.37596	0.969000|0.969000	0.65631|0.65631	0.104000|0.104000	0.15313|0.15313	-0.138000|-0.138000	0.11434|0.11434	0.491000|0.491000	0.48974|0.48974	CGT|ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	0	0	1		2	2	2	0		0	0	35		35	20	1	2.060000	-20.000000	1	0.170000	NM_021805			26	19		131	94	1		1	1		0	0	35	0		9.999977e-01	1	0	94	0	208	0	26	131
SIGIRR	59307	broad.mit.edu	37	11	407518	407518	+	Missense_Mutation	SNP	G	G	A	rs200106219	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	178	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667																																						ENST00000431843.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.986813	0.990000	1.000000																										0				13						c.(532-534)Cgc>Tgc		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							27.0	27.0	27.0					11																	407518		2188	4290	6478	SO:0001583	missense	59307	0	0					g.chr11:407518G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.532C>T	chr11.hg19:g.407518G>A	ENSP00000403104:p.Arg178Cys	0					SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C	p.R178C	NM_001135054.1	NP_001128526.1	1	2	3	1.993097	Q6IA17	SIGIR_HUMAN		6	838	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	0	1	hg19	c.532C>T	CCDS31325.1	1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.751638	0.49362	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209;ENST00000530494	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	2.75	1.81	0.25067	2.75	1.81	0.25067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.072087	0.56097	D	0.000036	T	0.25344	0.0616	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.01078	-1.1459	10	0.87932	D	0	.	9.1772	0.37118	0.0:0.0:0.6093:0.3907	.	178;178	C9JFX4;Q6IA17	.;SIGIR_HUMAN	C	178;178;178;178;178;74;122	ENSP00000403104:R178C;ENSP00000380756:R178C;ENSP00000333656:R178C;ENSP00000433022:R178C;ENSP00000371960:R178C;ENSP00000435135:R74C	ENSP00000333656:R178C	R	-	1	0	0	SIGIRR	397518	397518	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.303000	0.33470	0.725000	0.32318	0.289000	0.19496	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	1	0	0		2	2	2	0		0	0	20		20	19	1	2.060000	-17.517820	1	0.170000	NM_021805			10	10		67	66	0		1	1		0	0	20	0		9.973482e-01	9.856363e-01	0	19	0	34	0	10	67
SIGIRR	59307	broad.mit.edu	37	11	407555	407555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	165	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652																																						ENST00000431843.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999623	0.990000	1.000000																										0				13						c.(493-495)taC>taT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							25.0	26.0	26.0					11																	407555		2190	4291	6481	SO:0001819	synonymous_variant	59307	1	120234	19				g.chr11:407555G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.495C>T	chr11.hg19:g.407555G>A		0					SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y	p.Y165Y	NM_001135054.1	NP_001128526.1	1	2	3	1.993097	Q6IA17	SIGIR_HUMAN		6	801	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	1	1	hg19	c.495C>T	CCDS31325.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_021805			16	16		74	72	0		1	1		0	0	19	0		9.999539e-01	9.999833e-01	0	3	0	96	0	16	74
ANO9	338440	broad.mit.edu	37	11	418966	418966	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	653					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|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)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622																																						ENST00000332826.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1957-1959)cAc>cGc		anoctamin 9							161.0	141.0	148.0					11																	418966		2203	4300	6503	SO:0001583	missense	338440	0	0					g.chr11:418966T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1958A>G	chr11.hg19:g.418966T>C	ENSP00000332788:p.His653Arg	0					SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	p.H653R	NM_001012302.2	NP_001012302	1	2	3	1.993097	A1A5B4	ANO9_HUMAN		21	2042	-			B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	1	1	hg19	c.1958A>G	CCDS31326.1	1	.	.	.	.	.	.	.	.	.	.	t	17.05	3.289423	0.59976	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	4.44	3.3	0.37823	4.44	3.3	0.37823	.	0.402097	0.25164	N	0.032656	T	0.71913	0.3396	M	0.78456	2.415	0.36470	D	0.867201	P;D	0.67145	0.929;0.996	P;P	0.60345	0.503;0.873	T	0.74402	-0.3677	10	0.42905	T	0.14	.	7.4028	0.26973	0.0:0.1758:0.0:0.8242	.	354;653	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	653	ENSP00000332788:H653R	ENSP00000332788:H653R	H	-	2	0	0	ANO9	408966	408966	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.075000	0.57584	0.684000	0.31448	0.391000	0.25812	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	0	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-20.000000	1	0.170000	NM_001012302			144	141		642	620	1		1	1		0	0	154	0		1	9.951291e-01	0	12	0	26	0	144	642
ANO9	338440	broad.mit.edu	37	11	420737	420737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	538					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|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)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706																																						ENST00000332826.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				21						c.(1612-1614)ttC>ttT		anoctamin 9							22.0	25.0	24.0					11																	420737		2198	4296	6494	SO:0001819	synonymous_variant	338440	0	0					g.chr11:420737G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1614C>T	chr11.hg19:g.420737G>A		0						p.F538F	NM_001012302.2	NP_001012302	1	2	3	1.993097	A1A5B4	ANO9_HUMAN		18	1698	-			B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	1	1	hg19	c.1614C>T	CCDS31326.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	1	0	0		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_001012302			24	23		102	101	0		1	1		0	0	24	0		9.999998e-01	9.086643e-01	0	9	0	11	0	24	102
PTDSS2	81490	broad.mit.edu	37	11	488249	488249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	224					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)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637																																						ENST00000308020.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(670-672)ttC>ttT		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						149.0	125.0	133.0					11																	488249		2203	4300	6503	SO:0001819	synonymous_variant	81490	1	121408	34				g.chr11:488249C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.672C>T	chr11.hg19:g.488249C>T		0						p.F224F	NM_030783.1	NP_110410.1	1	2	3	1.993097	Q9BVG9	PTSS2_HUMAN		7	848	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		Silent	SNP	ENST00000308020.5	1	1	hg19	c.672C>T	CCDS7696.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.388038	1	0.170000				50	50		237	234	1		1	1		0	0	66	0		1	9.999999e-01	0	39	0	78	0	50	237
PTDSS2	81490	broad.mit.edu	37	11	489663	489663	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	349					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)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597																																						ENST00000308020.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1045-1047)Ctg>Ttg		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						53.0	46.0	48.0					11																	489663		2199	4299	6498	SO:0001819	synonymous_variant	81490	0	0					g.chr11:489663C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1045C>T	chr11.hg19:g.489663C>T		0						p.L349L	NM_030783.1	NP_110410.1	1	2	3	1.993097	Q9BVG9	PTSS2_HUMAN		10	1221	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		Silent	SNP	ENST00000308020.5	1	1	hg19	c.1045C>T	CCDS7696.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	1	0	1		2	2	2	0		0	0	15		15	10	1	2.060000	-20.000000	1	0.170000				25	22		50	47	1		1	1		0	0	15	0		9.999999e-01	1	0	24	0	59	0	25	50
RNH1	6050	broad.mit.edu	37	11	494985	494985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACGCAGGCTGTGGTTGGC	0.687																																						ENST00000534797.1	1.000000	0.450000	1	6.900000e-01	0.990000	0.883103	0.990000	1.000000																										0				10						c.(1195-1197)aGc>aTc		ribonuclease/angiogenin inhibitor 1							25.0	25.0	25.0					11																	494985		2200	4298	6498	SO:0001583	missense	6050	0	0					g.chr11:494985C>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1196G>T	chr11.hg19:g.494985C>A	ENSP00000433999:p.Ser399Ile	0					RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I	p.S399I			1	2	3	1.993097	O60930	RNH1_HUMAN		8	2603	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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)	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	0	1	hg19	c.1196G>T	CCDS7697.1	1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058631	0.55325	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	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	3.87	3.87	0.44632	3.87	3.87	0.44632	.	0.317042	0.26539	N	0.023807	D	0.82838	0.5124	M	0.92367	3.3	0.37013	D	0.895833	D	0.89917	1.0	D	0.97110	1.0	D	0.86268	0.1659	10	0.72032	D	0.01	.	7.5396	0.27731	0.0:0.8859:0.0:0.1141	.	399	P13489	RINI_HUMAN	I	399;399;399;399;193;399;399;399;399	ENSP00000433999:S399I;ENSP00000380738:S399I;ENSP00000380739:S399I;ENSP00000380729:S399I;ENSP00000432170:S193I;ENSP00000435594:S399I;ENSP00000416589:S399I;ENSP00000346402:S399I;ENSP00000348515:S399I	ENSP00000346402:S399I	S	-	2	0	0	RNH1	484985	484985	0.024000	0.19004	0.943000	0.38184	0.432000	0.31715	0.415000	0.21181	2.465000	0.83290	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-12.293000	1	0.170000	NM_203389			7	7		78	77	1		1	1		0	0	14	0		9.813381e-01	9.999997e-01	0	174	0	454	0	7	78
HRAS	3265	broad.mit.edu	37	11	533503	533503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000451590.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000417302.1_Missense_Mutation_p.A134T|HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	134					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.A134S(2)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCTTCGGGCGAGGTCCTGA	0.662		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000451590.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		6	yes	Dom	yes	Costello syndrome	yes	Dom	yes	Costello syndrome	11	11p15.5	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog				"""E, L, M"""	E, L, M		rhadomyosarcoma, ganglioneuroblastoma, bladder	infrequent sarcomas, rare other types		2	Substitution - Missense(2)	p.A134S(2)	haematopoietic_and_lymphoid_tissue(2)	901						c.(400-402)Gcc>Acc		Harvey rat sarcoma viral oncogene homolog							152.0	136.0	142.0					11																	533503		2203	4300	6503	SO:0001583	missense	3265	0	0		Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	g.chr11:533503C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.400G>A	chr11.hg19:g.533503C>T	ENSP00000407586:p.Ala134Thr	0	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000417302.1_Missense_Mutation_p.A134T	p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	1	2	3	1.993097	P01112	RASH_HUMAN		4	587	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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)	B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	1	1	hg19	c.400G>A	CCDS7698.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565125	0.86439	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.08	3.14	0.36123	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.938;0.978	D	0.94475	0.7688	10	0.87932	D	0	.	12.9091	0.58171	0.0:0.8348:0.1651:0.0	.	134;134	P01112-2;P01112	.;RASH_HUMAN	T	134	ENSP00000380722:A134T;ENSP00000380723:A134T;ENSP00000407586:A134T;ENSP00000388246:A134T;ENSP00000309845:A134T	ENSP00000309845:A134T	A	-	1	0	0	HRAS	523503	523503	1.000000	0.71417	0.885000	0.34714	0.857000	0.48899	5.759000	0.68785	0.801000	0.34066	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_176795			103	95		527	515	1		1	1		0	0	101	0		1	1	0	59	0	165	0	103	527
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562																																						ENST00000264555.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(301-303)tCt>tAt		PHD and ring finger domains 1							75.0	81.0	80.0					11																	587346		2003	4173	6176	SO:0001583	missense	57661	0	0					g.chr11:587346C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.302C>A	chr11.hg19:g.587346C>A	ENSP00000264555:p.Ser101Tyr	0					PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y	p.S101Y	NM_020901.2	NP_065952.2	1	2	3	1.993097	Q9P1Y6	PHRF1_HUMAN		4	430	+			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	1	1	hg19	c.302C>A		1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316680	0.60524	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82711	-1.63;-1.62;-1.64;-1.62	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90981	0.7164	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92354	0.5892	10	0.87932	D	0	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	101;100;101;97	ENSP00000264555:S101Y;ENSP00000388589:S100Y;ENSP00000410626:S101Y;ENSP00000431870:S97Y	ENSP00000264555:S101Y	S	+	2	0	0	PHRF1	577346	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-5.262963	1	0.170000	NM_020901			87	87		257	246	1		1	1		0	0	64	0		1	1	0	20	0	71	0	87	257
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	177					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)			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)		AGGGGTTGGAGGAGACTGAGG	0.572																																						ENST00000382409.3	1.000000	0.570000	1	7.300000e-01	0.920000	0.885401	0.920000	1.000000																										0				24						c.(529-531)cCt>cAt		DEAF1 transcription factor							49.0	57.0	54.0					11																	688045		2203	4300	6503	SO:0001583	missense	10522	0	0					g.chr11:688045G>T	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.530C>A	chr11.hg19:g.688045G>T	ENSP00000371846:p.Pro177His	0					DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	p.P177H	NM_021008.2	NP_066288.2	1	2	3	1.993097	O75398	DEAF1_HUMAN		4	1014	-		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)	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	1	1	hg19	c.530C>A	CCDS31327.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742636	0.89573	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.68624	-0.34	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.27053	0.805	0.44780	D	0.997786	D	0.71674	0.998	P	0.60173	0.87	T	0.74176	-0.3750	10	0.87932	D	0	-12.841	15.6697	0.77264	0.0:0.0:1.0:0.0	.	177	O75398	DEAF1_HUMAN	H	177;177;163;100	ENSP00000371846:P177H	ENSP00000341902:P177H	P	-	2	0	0	DEAF1	678045	678045	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.261000	0.95576	2.349000	0.79799	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.318837	1	0.170000	NM_021008			18	17		215	212	1		1	1		0	0	36	0		9.999827e-01	9.965275e-01	0	19	0	93	0	18	215
EPS8L2	64787	broad.mit.edu	37	11	721660	721660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	EPS8L2_ENST00000526198.1_Silent_p.K304K|EPS8L2_ENST00000530636.1_Silent_p.K288K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.K288K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657																																						ENST00000533256.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(862-864)aaG>aaA		EPS8-like 2							35.0	45.0	42.0					11																	721660		2196	4289	6485	SO:0001819	synonymous_variant	64787	0	0					g.chr11:721660G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.864G>A	chr11.hg19:g.721660G>A		0					AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.K304K|EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000318562.8_Silent_p.K288K	p.K288K			1	2	3	1.993097	Q9H6S3	ES8L2_HUMAN		11	1239	+		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)	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	1	1	hg19	c.864G>A	CCDS31328.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	0		2	2	2	0		0	0	48		48	46	1	2.060000	-3.165192	1	0.170000	NM_022772			42	42		222	217	1		1	1		0	0	48	0		1	9.999998e-01	0	56	0	73	0	42	222
EPS8L2	64787	broad.mit.edu	37	11	722509	722509	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	390					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687																																						ENST00000533256.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				13						c.(1168-1170)Tcg>Ccg		EPS8-like 2							55.0	50.0	52.0					11																	722509		2203	4300	6503	SO:0001583	missense	64787	0	0					g.chr11:722509T>C	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1168T>C	chr11.hg19:g.722509T>C	ENSP00000435585:p.Ser390Pro	0					AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P	p.S390P			1	2	3	1.993097	Q9H6S3	ES8L2_HUMAN		14	1543	+		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)	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	1	1	hg19	c.1168T>C	CCDS31328.1	1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.897953	0.33535	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.98	-0.829	0.10796	2.98	-0.829	0.10796	.	1.727610	0.03872	U	0.275779	T	0.17662	0.0424	L	0.38175	1.15	0.29120	N	0.880295	B;B	0.31730	0.337;0.337	B;B	0.32289	0.143;0.143	T	0.28267	-1.0049	10	0.41790	T	0.15	-5.1488	6.6122	0.22757	0.1299:0.0:0.6541:0.216	.	406;390	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	P	390;390;390;406	ENSP00000320828:S390P;ENSP00000435585:S390P;ENSP00000436035:S390P;ENSP00000436230:S406P	ENSP00000320828:S390P	S	+	1	0	0	EPS8L2	712509	712509	0.005000	0.15991	0.399000	0.26333	0.763000	0.43281	-0.021000	0.12504	-0.341000	0.08376	0.398000	0.26397	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_022772			37	37		200	194	1		1	1		0	0	59	0		1	1	0	109	0	108	0	37	200
EPS8L2	64787	broad.mit.edu	37	11	725803	725803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	546	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766																																						ENST00000533256.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998494	0.990000	1.000000																										0				13						c.(1636-1638)Cta>Ata		EPS8-like 2							5.0	7.0	7.0					11																	725803		1840	3856	5696	SO:0001583	missense	64787	0	0					g.chr11:725803C>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1636C>A	chr11.hg19:g.725803C>A	ENSP00000435585:p.Leu546Ile	0					AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I	p.L546I			1	2	3	1.993097	Q9H6S3	ES8L2_HUMAN		18	2011	+		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)	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	0	1	hg19	c.1636C>A	CCDS31328.1	1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.927052	0.52759	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.19	2.27	0.28462	3.19	2.27	0.28462	Src homology-3 domain (3);	0.118681	0.35555	N	0.003132	T	0.42517	0.1206	L	0.46885	1.475	0.40983	D	0.984797	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.31641	-0.9936	10	0.72032	D	0.01	-20.6528	6.846	0.23988	0.0:0.7603:0.0:0.2397	.	562;546	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	546;546;546;562	ENSP00000320828:L546I;ENSP00000435585:L546I;ENSP00000436035:L546I;ENSP00000436230:L562I	ENSP00000320828:L546I	L	+	1	2	2	EPS8L2	715803	715803	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	1.194000	0.32174	0.688000	0.31529	0.457000	0.33378	CTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.766	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.957990	1	0.170000	NM_022772			11	11		48	48	0		1	1		0	0	9	0		9.988767e-01	9.971663e-01	0	19	0	31	0	11	48
SLC25A22	79751	broad.mit.edu	37	11	792041	792041	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S|CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	282					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGAAGGCCGAGGGGCCCT	0.697																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998435	0.990000	1.000000																										0				5						c.(844-846)tcG>tcA		solute carrier family 25 (mitochondrial carrier: glutamate), member 22							16.0	16.0	16.0					11																	792041		2191	4291	6482	SO:0001819	synonymous_variant	79751	2	120476	35				g.chr11:792041C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.846G>A	chr11.hg19:g.792041C>T		0					SLC25A22_ENST00000531214.1_Silent_p.S282S|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	p.S282S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	1	2	3	1.993097	Q9H936	GHC1_HUMAN		10	1327	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000320230.5	1	1	hg19	c.846G>A	CCDS7715.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.997320	1	0.170000				12	12		57	57	1		1	1		0	0	18	0		9.994080e-01	9.927014e-01	0	9	0	35	0	12	57
RPLP2	6181	broad.mit.edu	37	11	812603	812603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S|RPLP2_ENST00000532004.1_3'UTR|SNORA52_ENST00000362915.1_RNA	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCTCTGCAGCCCCTGCTGC	0.622																																						ENST00000321153.4	1.000000	0.210000	7.000000e-01	3.200000e-01	0.480000	0.516100	0.480000	0.440000																										0				1						c.(241-243)Gcc>Tcc		ribosomal protein, large, P2							44.0	41.0	42.0					11																	812603		2203	4299	6502	SO:0001583	missense	6181	0	0					g.chr11:812603G>T	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"""L ribosomal proteins"""	10377	protein-coding gene	gene with protein product	"""60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"""	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.241G>T	chr11.hg19:g.812603G>T	ENSP00000322419:p.Ala81Ser	0					RPLP2_ENST00000532004.1_3'UTR|SNORA52_ENST00000362915.1_RNA|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	p.A81S	NM_001004.3	NP_000995.1	1	2	3	1.993097	P05387	RLA2_HUMAN		4	635	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	Q6FG96	Missense_Mutation	SNP	ENST00000321153.4	1	1	hg19	c.241G>T	CCDS7717.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.733433|2.733433	0.48939|0.48939	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.258634|.	0.36854|.	N|.	0.002380|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.47673|.	0.554|.	T|T	0.73789|0.73789	-0.3872|-0.3872	9|5	0.51188|.	T|.	0.08|.	-13.2689|-13.2689	17.898|17.898	0.88895|0.88895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81|.	P05387|.	RLA2_HUMAN|.	S|H	81|57	.|.	ENSP00000322419:A81S|.	A|Q	+|+	1|3	0|2	0|2	RPLP2|RPLP2	802603|802603	802603|802603	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.191000|0.191000	0.23601|0.23601	6.804000|6.804000	0.75186|0.75186	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GCC|CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-9.462666	1	0.170000	NM_001004			7	7		176	172	0		1	1		0	0	40	0		9.796805e-01	1	0	430	0	7294	0	7	176
CD151	977	broad.mit.edu	37	11	837331	837331	+	Missense_Mutation	SNP	G	G	A	rs560834839	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000397420.3	+	6	682	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000528011.1_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	145					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0031				Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(433-435)Gct>Act		CD151 molecule (Raph blood group)							64.0	61.0	62.0					11																	837331		2201	4297	6498	SO:0001583	missense	977	10	121160	40				g.chr11:837331G>A	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.433G>A	chr11.hg19:g.837331G>A	ENSP00000380565:p.Ala145Thr	0					CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000528011.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T	p.A145T			1	2	3	1.993097	P48509	CD151_HUMAN		6	682	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	1	1	hg19	c.433G>A	CCDS7719.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782579	0.70222	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.41	4.41	0.53225	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.86569	0.1846	10	0.51188	T	0.08	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	145	P48509	CD151_HUMAN	T	145;145;145;120;145;145;145;145;145	ENSP00000380565:A145T;ENSP00000324101:A145T;ENSP00000380566:A145T;ENSP00000432258:A120T;ENSP00000435054:A145T;ENSP00000431403:A145T;ENSP00000436591:A145T;ENSP00000433787:A145T;ENSP00000432990:A145T	ENSP00000324101:A145T	A	+	1	0	0	CD151	827331	827331	1.000000	0.71417	0.314000	0.25224	0.027000	0.11550	7.288000	0.78691	2.290000	0.77057	0.561000	0.74099	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_004357			67	65		263	258	1		1	1		0	0	45	0		1	1	0	659	0	1550	0	67	263
TSPAN4	7106	broad.mit.edu	37	11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|RP11-1391J7.1_ENST00000506172.2_RNA|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	81					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672																																						ENST00000397404.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(241-243)tgC>tgA		tetraspanin 4							50.0	48.0	48.0					11																	862729		2203	4299	6502	SO:0001587	stop_gained	7106	0	0					g.chr11:862729C>A	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.243C>A	chr11.hg19:g.862729C>A	ENSP00000380553:p.Cys81*	0					TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|RP11-1391J7.1_ENST00000506172.2_RNA	p.C81*	NM_001025237.1	NP_001020408.1	1	2	3	1.993097	O14817	TSN4_HUMAN		4	502	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Q6IAP6	Nonsense_Mutation	SNP	ENST00000397404.1	0	1	hg19	c.243C>A	CCDS7721.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803300	0.90623	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.76	0.32466	3.67	2.76	0.32466	.	0.314743	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9629	0.47395	0.0:0.9074:0.0:0.0926	.	.	.	.	X	81;81;17;81;81;17;81;81;17;81;81;100;81	.	ENSP00000324304:C81X	C	+	3	2	2	TSPAN4	852729	852729	0.989000	0.36119	0.999000	0.59377	0.970000	0.65996	0.340000	0.19892	0.765000	0.33221	0.561000	0.74099	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.998690	1	0.170000				38	37		168	166	1		1	1		0	0	48	0		1	1	0	5	0	323	0	38	168
MOB2	81532	broad.mit.edu	37	11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	184					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						CGAGCAAAGAGGATGAAGTGG	0.617																																						ENST00000329957.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(643-645)Ctc>Ttc		MOB kinase activator 2							130.0	141.0	137.0					11																	1491566		2121	4222	6343	SO:0001583	missense	81532	0	0					g.chr11:1491566G>A		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.643C>T	chr11.hg19:g.1491566G>A	ENSP00000328694:p.Leu215Phe	0					MOB2_ENST00000526462.1_5'UTR	p.L215F	NM_001172223.1	NP_001165694.1	1	2	3	1.993097	Q70IA6	MOB2_HUMAN		5	832	-			B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	1	1	hg19	c.643C>T	CCDS53591.1	1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563149	0.45694	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	3.24	0.37175	4.18	3.24	0.37175	.	0.160384	0.40908	D	0.000991	T	0.58821	0.2149	L	0.48174	1.505	0.41982	D	0.990809	P;P	0.49090	0.919;0.72	P;P	0.55749	0.783;0.619	T	0.52801	-0.8527	9	0.12103	T	0.63	-39.9522	12.2761	0.54735	0.0845:0.0:0.9155:0.0	.	215;184	E9PDA5;Q70IA6	.;MOB2_HUMAN	F	215	.	ENSP00000328694:L215F	L	-	1	0	0	AC091196.1	1448142	1448142	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.756000	0.55205	2.176000	0.68965	0.563000	0.77884	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	1	0	1		2	2	2	0		0	0	158		158	155	1	2.060000	-3.185533	1	0.170000	NM_053005			101	99		468	460	1		1	1		0	0	158	0		1	1	0	29	0	106	0	101	468
MOB2	81532	broad.mit.edu	37	11	1492597	1492597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1492597G>A	ENST00000329957.6	-	4	607	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	109					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						TCAACGTACTGTGGGGCCGTG	0.597																																						ENST00000329957.6	1.000000	0.240000	6.700000e-01	3.500000e-01	0.480000	0.518904	0.480000	0.460000																										0				4						c.(418-420)Cag>Tag		MOB kinase activator 2							110.0	126.0	121.0					11																	1492597		2166	4249	6415	SO:0001587	stop_gained	81532	0	0					g.chr11:1492597G>A		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.418C>T	chr11.hg19:g.1492597G>A	ENSP00000328694:p.Gln140*	0					MOB2_ENST00000526462.1_5'UTR	p.Q140*	NM_001172223.1	NP_001165694.1	1	2	3	1.993097	Q70IA6	MOB2_HUMAN		4	607	-			B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	0	1	hg19	c.418C>T	CCDS53591.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.297330	0.95574	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.34	3.39	0.38822	4.34	3.39	0.38822	.	0.071849	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.0121	12.7035	0.57046	0.0823:0.0:0.9177:0.0	.	.	.	.	X	140	.	ENSP00000328694:Q140X	Q	-	1	0	0	AC091196.1	1449173	1449173	1.000000	0.71417	0.952000	0.39060	0.752000	0.42762	6.065000	0.71176	2.250000	0.74265	0.462000	0.41574	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-11.700610	1	0.170000	NM_053005			10	9		243	242	0		1	1		0	0	67	0		9.969235e-01	9.886171e-01	0	3	0	187	0	10	243
KRTAP5-1	387264	broad.mit.edu	37	11	1606276	1606276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	68	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662																																						ENST00000382171.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(202-204)ggC>ggT		keratin associated protein 5-1							77.0	94.0	89.0					11																	1606276		2201	4299	6500	SO:0001819	synonymous_variant	387264	0	0					g.chr11:1606276G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.204C>T	chr11.hg19:g.1606276G>A		0					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G68G	NM_001005922.1	NP_001005922.1	1	2	3	1.993097	Q6L8H4	KRA51_HUMAN		1	237	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		Silent	SNP	ENST00000382171.2	1	1	hg19	c.204C>T	CCDS31330.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	1	0	1		2	2	2	0		0	0	240		240	236	1	2.060000	-20.000000	1	0.170000	NM_001005922			213	202		1029	978	1		1	0		0	0	240	0		1	0	0	0	0	1	0	213	1029
KRTAP5-3	387266	broad.mit.edu	37	11	1629124	1629124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	164	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622																																						ENST00000399685.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(490-492)tgC>tgT		keratin associated protein 5-3							141.0	149.0	146.0					11																	1629124		2202	4299	6501	SO:0001819	synonymous_variant	387266	0	0					g.chr11:1629124G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.492C>T	chr11.hg19:g.1629124G>A		0						p.C164C	NM_001012708.2	NP_001012726.1	1	2	3	1.993097	Q6L8H2	KRA53_HUMAN		1	569	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	1	1	hg19	c.492C>T	CCDS41591.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1	1	0	1		2	2	2	0		0	0	334		334	347	1	2.060000	-20.000000	1	0.170000				296	285		1351	1257	0		1			0	0	334	0		1	0	0	0	0	0	0	296	1351
KRTAP5-6	440023	broad.mit.edu	37	11	1718682	1718682	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	69	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAAAGGGGGCTGTGGCTCTT	0.637																																						ENST00000382160.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.998007	0.990000	1.000000																										0				10						c.(205-207)ggC>ggA		keratin associated protein 5-6							82.0	104.0	97.0					11																	1718682		2202	4299	6501	SO:0001819	synonymous_variant	440023	0	0					g.chr11:1718682C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.207C>A	chr11.hg19:g.1718682C>A		0						p.G69G	NM_001012416.1	NP_001012416.1	1	2	3	1.993097	Q6L8G9	KRA56_HUMAN		1	258	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A1L452	Silent	SNP	ENST00000382160.1	1	1	hg19	c.207C>A	CCDS31332.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2	1	0	1		2	2	2	0		0	0	262		262	252	1	2.060000	-20.000000	1	0.170000				127	124		1181	1129	1		1			0	0	262	0		1	0	0	0	0	0	0	127	1181
SYT8	90019	broad.mit.edu	37	11	1856331	1856331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1856331G>A	ENST00000381968.3	+	2	166	c.38G>A	c.(37-39)aGa>aAa	p.R13K	SYT8_ENST00000535046.1_Missense_Mutation_p.R151K|SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	13					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCAGGGTAGAAAGATGGGG	0.662																																						ENST00000381968.3	1.000000	0.090000	3.700000e-01	1.600000e-01	0.240000	0.285177	0.240000	0.230000																										0				6						c.(37-39)aGa>aAa		synaptotagmin VIII							35.0	42.0	40.0					11																	1856331		2202	4299	6501	SO:0001583	missense	90019	0	0					g.chr11:1856331G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.38G>A	chr11.hg19:g.1856331G>A	ENSP00000371394:p.Arg13Lys	0					SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000535046.1_Missense_Mutation_p.R151K|SYT8_ENST00000436964.2_5'UTR	p.R13K	NM_138567.3	NP_612634	1	2	3	1.993097	Q8NBV8	SYT8_HUMAN		2	166	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	0	1	hg19	c.38G>A	CCDS7726.2	0	.	.	.	.	.	.	.	.	.	.	g	0.664	-0.804557	0.02819	.	.	ENSG00000149043	ENST00000535046;ENST00000381968	T;T	0.19105	2.17;2.99	2.81	-1.95	0.07548	2.81	-1.95	0.07548	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.36529	-0.9744	9	0.06236	T	0.91	.	0.5351	0.00635	0.4009:0.181:0.2354:0.1826	.	13	Q8NBV8	SYT8_HUMAN	K	151;13	ENSP00000443325:R151K;ENSP00000371394:R13K	ENSP00000371394:R13K	R	+	2	0	0	SYT8	1812907	1812907	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.184000	0.03076	-0.417000	0.07461	0.305000	0.20034	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4	0	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-6.882509	1	0.170000				6	6		309	305	0		1	0		0	0	50	0		9.639610e-01	3.735581e-01	0	1	0	59	0	6	309
SYT8	90019	broad.mit.edu	37	11	1858551	1858551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1858551G>A	ENST00000381968.3	+	9	1224	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.A352T	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	366					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGCCCACGCCCGGCGGCC	0.756																																						ENST00000381968.3	1.000000	0.180000	6.600000e-01	2.900000e-01	0.440000	0.484635	0.440000	0.410000																										0				6						c.(1096-1098)Gcc>Acc		synaptotagmin VIII							12.0	14.0	14.0					11																	1858551		2161	4205	6366	SO:0001583	missense	90019	1	118662	29				g.chr11:1858551G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1096G>A	chr11.hg19:g.1858551G>A	ENSP00000371394:p.Ala366Thr	0					SYT8_ENST00000341958.3_Missense_Mutation_p.A352T|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank	p.A366T	NM_138567.3	NP_612634	1	2	3	1.993097	Q8NBV8	SYT8_HUMAN		9	1224	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	0	1	hg19	c.1096G>A	CCDS7726.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.74|19.74	3.883746|3.883746	0.72410|0.72410	.|.	.|.	ENSG00000149043|ENSG00000149043	ENST00000381968;ENST00000341958|ENST00000381978	T;T|.	0.07688|.	3.17;3.17|.	3.85|3.85	-0.83|-0.83	0.10792|0.10792	3.85|3.85	-0.83|-0.83	0.10792|0.10792	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|.	.|.	.|.	.|.	T|T	0.67258|0.67258	0.2874|0.2874	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	P;D|.	0.63046|.	0.955;0.992|.	B;P|.	0.45712|.	0.223;0.491|.	T|T	0.66035|0.66035	-0.6023|-0.6023	9|5	0.87932|.	D|.	0|.	.|.	19.2976|19.2976	0.94129|0.94129	0.0:0.7222:0.2778:0.0|0.0:0.7222:0.2778:0.0	.|.	366;352|.	Q8NBV8;A6NCR4|.	SYT8_HUMAN;.|.	T|H	366;352|364	ENSP00000371394:A366T;ENSP00000343691:A352T|.	ENSP00000343691:A352T|.	A|R	+|+	1|2	0|0	0|0	SYT8|SYT8	1815127|1815127	1815127|1815127	0.020000|0.020000	0.18652|0.18652	0.673000|0.673000	0.29887|0.29887	0.775000|0.775000	0.43874|0.43874	0.288000|0.288000	0.18939|0.18939	-0.234000|-0.234000	0.09782|0.09782	0.436000|0.436000	0.28706|0.28706	GCC|CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-9.263863	1	0.170000				6	6		165	163	0		1	1		0	0	21	0		9.645293e-01	3.291314e-02	0	2	0	5	0	6	165
TNNI2	7136	broad.mit.edu	37	11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	70					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCTGCACGCCAAGATCGA	0.677																																						ENST00000381906.1	1.000000	0.260000	9.100000e-01	4.100000e-01	0.620000	0.644208	0.620000	1.000000																										0				10						c.(208-210)Gcc>Acc		troponin I type 2 (skeletal, fast)							62.0	52.0	56.0					11																	1862070		2199	4297	6496	SO:0001583	missense	7136	1	121212	36				g.chr11:1862070G>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.208G>A	chr11.hg19:g.1862070G>A	ENSP00000371331:p.Ala70Thr	0					TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T	p.A70T	NM_001145829.1	NP_001139301.1	1	2	3	1.993097	P48788	TNNI2_HUMAN		6	277	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	1	1	hg19	c.208G>A	CCDS31333.1	0	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585488	0.28268	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	2.67	2.67	0.31697	2.67	2.67	0.31697	.	0.393040	0.28176	N	0.016318	D	0.94535	0.8240	M	0.62016	1.91	0.36625	D	0.875959	D;P	0.76494	0.999;0.858	D;B	0.75484	0.986;0.107	D	0.95585	0.8650	10	0.48119	T	0.1	-2.6848	14.4828	0.67594	0.0:0.0:1.0:0.0	.	70;70	A6NIV8;P48788	.;TNNI2_HUMAN	T	70	ENSP00000371336:A70T;ENSP00000371331:A70T;ENSP00000252898:A70T;ENSP00000371330:A70T	ENSP00000252898:A70T	A	+	1	0	0	TNNI2	1818646	1818646	0.010000	0.17322	0.999000	0.59377	0.339000	0.28857	0.353000	0.20130	1.812000	0.52913	0.205000	0.17691	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-4.330646	1	0.170000	NM_003282			6	6		116	115	0		1	0		0	0	23	0		9.653173e-01	1.307831e-01	0	0	0	11	0	6	116
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	C	T	rs199474800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000381911.1_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	165					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642																																						ENST00000381906.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(493-495)atC>atT		troponin I type 2 (skeletal, fast)							231.0	188.0	203.0					11																	1862727		2202	4299	6501	SO:0001819	synonymous_variant	7136	2	121410	36				g.chr11:1862727C>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.495C>T	chr11.hg19:g.1862727C>T		0					TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000381911.1_Silent_p.I165I	p.I165I	NM_001145829.1	NP_001139301.1	1	2	3	1.993097	P48788	TNNI2_HUMAN		8	564	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	1	1	hg19	c.495C>T	CCDS31333.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-3.430488	1	0.170000	NM_003282			65	65		290	288	1		1	1		0	0	88	0		1	7.557153e-01	0	3	0	11	0	65	290
LSP1	4046	broad.mit.edu	37	11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000311604.3	+	2	286	c.111G>T	c.(109-111)caG>caT	p.Q37H	LSP1_ENST00000381775.1_Missense_Mutation_p.Q165H|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000406638.2_5'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	37					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657																																						ENST00000311604.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(109-111)caG>caT		lymphocyte-specific protein 1							79.0	63.0	68.0					11																	1901374		2202	4299	6501	SO:0001583	missense	4046	0	0					g.chr11:1901374G>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.111G>T	chr11.hg19:g.1901374G>T	ENSP00000308383:p.Gln37His	0					LSP1_ENST00000381775.1_Missense_Mutation_p.Q165H|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000406638.2_5'UTR	p.Q37H	NM_002339.2	NP_002330.1	1	2	3	1.993097	P33241	LSP1_HUMAN		2	286	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	1	1	hg19	c.111G>T	CCDS31334.1	1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.400235	0.42613	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.49139	1.86;1.79;1.86;1.4;0.79	3.24	-0.0138	0.13982	3.24	-0.0138	0.13982	.	0.367615	0.15648	U	0.251555	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.28512	0.214;0.07	B;B	0.22753	0.041;0.025	T	0.14392	-1.0474	10	0.51188	T	0.08	-12.2831	4.5777	0.12241	0.237:0.183:0.58:0.0	.	165;37	E9PFP3;P33241	.;LSP1_HUMAN	H	37;165;28;20;55	ENSP00000308383:Q37H;ENSP00000371194:Q165H;ENSP00000400346:Q28H;ENSP00000400999:Q20H;ENSP00000403460:Q55H	ENSP00000308383:Q37H	Q	+	3	2	2	LSP1	1857950	1857950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.097000	0.12307	0.491000	0.48974	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_002339			43	41		189	188	1		1	0		0	0	36	0		1	1	0	1	0	591	0	43	189
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	C	T	rs577198149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000311604.3	+	4	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000406638.2_Silent_p.Y63Y	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20638	0.001		0.0	False		,,,				2504	0.0					ENST00000311604.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.Y63Y(1)|p.Y125Y(1)	prostate(2)	16						c.(373-375)taC>taT		lymphocyte-specific protein 1							79.0	80.0	80.0					11																	1904667		2202	4299	6501	SO:0001819	synonymous_variant	4046	1	121412	30				g.chr11:1904667C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.375C>T	chr11.hg19:g.1904667C>T		0					LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000406638.2_Silent_p.Y63Y	p.Y125Y	NM_002339.2	NP_002330.1	1	2	3	1.993097	P33241	LSP1_HUMAN		4	550	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	1	1	hg19	c.375C>T	CCDS31334.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	1	0	1		2	2	2	0		0	0	87		87	84	1	2.060000	-20.000000	1	0.170000	NM_002339			62	60		325	319	1		1	1		0	0	87	0		1	1	0	2	0	420	0	62	325
TNNT3	7140	broad.mit.edu	37	11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000397301.1	+	13	467	c.459G>T	c.(457-459)aaG>aaT	p.K153N	TNNT3_ENST00000381558.1_Missense_Mutation_p.K134N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	153					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGACCTGAAGAAGAAGAAAG	0.582																																						ENST00000397301.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999871	0.990000	1.000000																										0				19						c.(457-459)aaG>aaT		troponin T type 3 (skeletal, fast)							112.0	105.0	107.0					11																	1955621		2202	4298	6500	SO:0001583	missense	7140	0	0					g.chr11:1955621G>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.459G>T	chr11.hg19:g.1955621G>T	ENSP00000380468:p.Lys153Asn	0					TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K134N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N	p.K153N			1	2	3	1.993097	P45378	TNNT3_HUMAN		13	467	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	1	1	hg19	c.459G>T		1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.729644	0.69074	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;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;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	1.66	0.24008	4.66	1.66	0.24008	.	0.048143	0.85682	N	0.000000	D	0.91784	0.7401	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	D;D;D;D;D	0.70487	0.948;0.948;0.948;0.948;0.969	D	0.89446	0.3727	10	0.87932	D	0	-15.3383	6.8869	0.24208	0.1526:0.0:0.7057:0.1416	.	142;134;140;134;153	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	142;38;154;145;144;136;134;140;134;128;123;145;129;134;153;123;123	ENSP00000278317:K142N;ENSP00000370973:K145N;ENSP00000370960:K144N;ENSP00000353815:K136N;ENSP00000370961:K134N;ENSP00000371001:K140N;ENSP00000370991:K134N;ENSP00000370969:K128N;ENSP00000415614:K123N;ENSP00000370975:K145N;ENSP00000344870:K129N;ENSP00000370970:K134N;ENSP00000380468:K153N;ENSP00000380471:K123N;ENSP00000413203:K123N	ENSP00000278317:K142N	K	+	3	2	2	TNNT3	1912197	1912197	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.268000	0.65536	0.139000	0.18822	0.313000	0.20887	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006757			30	30		177	176	1		1	0		0	0	43	0		1	0	0	0	0	1	0	30	177
TNNT3	7140	broad.mit.edu	37	11	1958209	1958209	+	Missense_Mutation	SNP	G	G	A	rs1130395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1958209G>A	ENST00000397301.1	+	16	739	c.731G>A	c.(730-732)aGc>aAc	p.S244N	TNNT3_ENST00000381558.1_Missense_Mutation_p.S225N|TNNT3_ENST00000278317.6_Missense_Mutation_p.S233N|TNNT3_ENST00000381548.3_Missense_Mutation_p.S235N|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.S231N|TNNT3_ENST00000381549.3_Missense_Mutation_p.S225N|TNNT3_ENST00000397304.2_Missense_Mutation_p.S214N|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Missense_Mutation_p.S236N|TNNT3_ENST00000381579.3_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	244					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGCTCAGGAGCCGCATTGAC	0.652																																						ENST00000397301.1	1.000000	0.560000	1	8.200000e-01	0.990000	0.938022	0.990000	1.000000																										0				19						c.(730-732)aGc>aAc		troponin T type 3 (skeletal, fast)							111.0	76.0	88.0					11																	1958209		2194	4297	6491	SO:0001583	missense	7140	42	120858	38				g.chr11:1958209G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.731G>A	chr11.hg19:g.1958209G>A	ENSP00000380468:p.Ser244Asn	0					TNNT3_ENST00000381548.3_Missense_Mutation_p.S235N|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397304.2_Missense_Mutation_p.S214N|TNNT3_ENST00000381561.4_Missense_Mutation_p.S236N|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.S231N|TNNT3_ENST00000381549.3_Missense_Mutation_p.S225N|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381558.1_Missense_Mutation_p.S225N|TNNT3_ENST00000278317.6_Missense_Mutation_p.S233N	p.S244N			1	2	3	1.993097	P45378	TNNT3_HUMAN		16	739	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	0	0	hg19	c.731G>A		1	.	.	.	.	.	.	.	.	.	.	.	0.220	-1.029750	0.02045	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000381549;ENST00000381589;ENST00000381557;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.19	3.26	0.37387	4.19	3.26	0.37387	.	0.530183	0.22387	N	0.060730	T	0.30603	0.0770	N	0.00453	-1.485	0.24806	N	0.992672	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46034	-0.9220	10	0.02654	T	1	-2.5967	4.292	0.10883	0.365:0.0:0.635:0.0	.	233;225;231	P45378-2;P45378-7;P45378-6	.;.;.	N	233;245;236;235;225;231;219;236;220;225;244;214	ENSP00000278317:S233N;ENSP00000370973:S236N;ENSP00000370960:S235N;ENSP00000370961:S225N;ENSP00000371001:S231N;ENSP00000370969:S219N;ENSP00000370975:S236N;ENSP00000344870:S220N;ENSP00000370970:S225N;ENSP00000380468:S244N;ENSP00000380471:S214N	ENSP00000278317:S233N	S	+	2	0	0	TNNT3	1914785	1914785	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.737000	0.38197	2.063000	0.61619	0.306000	0.20318	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-13.874460	1	0.170000	NM_006757			8	8		74	71	1		1	0		0	0	11	0		9.890103e-01	0	0	0	0	1	0	8	74
MRPL23	6150	broad.mit.edu	37	11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T	rs376634074		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000397298.3	+	4	364	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	93					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGACTACAAGGTCGCCTACG	0.542											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397298.3	1.000000	0.340000	1	5.000000e-01	0.720000	0.728388	0.720000	1.000000																										0				4						c.(277-279)aaG>aaT		mitochondrial ribosomal protein L23		G	ASN/LYS	1,4403	2.1+/-5.4	0,1,2201	29.0	27.0	27.0		279	2.2	1.0	11		27	0,8598		0,0,4299	no	missense	MRPL23	NM_021134.3	94	0,1,6500	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	93/154	1974067	1,13001	2202	4299	6501	SO:0001583	missense	6150	1	121400	21				g.chr11:1974067G>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.279G>T	chr11.hg19:g.1974067G>T	ENSP00000380466:p.Lys93Asn	0		OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	600	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N	p.K93N	NM_021134.3	NP_066957.3	1	2	3	1.993097	Q16540	RM23_HUMAN		4	364	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	1	1	hg19	c.279G>T	CCDS31336.1	0	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	2.27E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.18	2.24	0.28232	3.18	2.24	0.28232	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.84047	0.5386	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83812	0.0242	10	0.87932	D	0	.	7.6413	0.28294	0.2208:0.0:0.7792:0.0	.	93	Q16540	RM23_HUMAN	N	93	ENSP00000380466:K93N;ENSP00000370930:K93N;ENSP00000380465:K93N;ENSP00000370925:K93N;ENSP00000380462:K93N	ENSP00000370925:K93N	K	+	3	2	2	MRPL23	1930643	1930643	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	1.738000	0.38207	0.654000	0.30846	0.313000	0.20887	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.153190	1	0.170000	NM_021134			8	8		129	129	0		1	1		0	0	33	0		9.900553e-01	9.999978e-01	0	40	0	546	0	8	129
TH	7054	broad.mit.edu	37	11	2186913	2186913	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000333684.5_Silent_p.S305S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677																																						ENST00000381178.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999925	0.990000	1.000000																										0				11						c.(1276-1278)tcC>tcA		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						57.0	55.0	56.0					11																	2186913		2199	4297	6496	SO:0001819	synonymous_variant	7054	0	0					g.chr11:2186913G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1278C>A	chr11.hg19:g.2186913G>T		0					TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000381175.1_Silent_p.S422S	p.S426S	NM_199292.2	NP_954986.2	1	2	3	1.993097	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	12	1296	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	1	1	hg19	c.1278C>A	CCDS7731.1	1	.	.	.	.	.	.	.	.	.	.	G	3.918	-0.018787	0.07681	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	4.03	0.46877	4.03	4.03	0.46877	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59473	-0.7448	4	.	.	.	5.293	10.8905	0.46992	0.0:0.0:0.812:0.188	.	.	.	.	I	115	.	.	L	-	1	2	2	TH	2143489	2143489	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.446000	0.35090	1.970000	0.57323	0.491000	0.48974	CTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_000360			27	27		145	142	1		1			0	0	37	0		1	0	0	0	0	0	0	27	145
TH	7054	broad.mit.edu	37	11	2189762	2189762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189762C>T	ENST00000381178.1	-	4	557	c.539G>A	c.(538-540)cGc>cAc	p.R180H	TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000333684.5_Missense_Mutation_p.R153H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	180					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711																																						ENST00000381178.1	1.000000	0.160000	6.100000e-01	2.600000e-01	0.400000	0.446007	0.400000	0.370000																										0				11						c.(538-540)cGc>cAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						15.0	17.0	16.0					11																	2189762		2189	4279	6468	SO:0001583	missense	7054	0	0					g.chr11:2189762C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.539G>A	chr11.hg19:g.2189762C>T	ENSP00000370571:p.Arg180His	0					TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000381175.1_Missense_Mutation_p.R176H	p.R180H	NM_199292.2	NP_954986.2	1	2	3	1.993097	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	4	557	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	0	1	hg19	c.539G>A	CCDS7731.1	0	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657311	0.47467	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	3.67	1.55	0.23275	3.67	1.55	0.23275	.	0.199725	0.42821	N	0.000647	D	0.97377	0.9142	M	0.66939	2.045	0.33546	D	0.595514	P;B;B;D;D;D	0.58268	0.48;0.029;0.029;0.982;0.97;0.982	B;B;B;P;P;P	0.54544	0.036;0.003;0.003;0.755;0.574;0.755	D	0.96649	0.9480	10	0.87932	D	0	-13.4039	4.7319	0.12968	0.0:0.5847:0.1841:0.2312	.	153;153;149;149;180;176	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	180;176;149;153	ENSP00000370571:R180H;ENSP00000370567:R176H;ENSP00000325951:R149H;ENSP00000328814:R153H	ENSP00000328814:R153H	R	-	2	0	0	TH	2146338	2146338	0.999000	0.42202	0.769000	0.31535	0.084000	0.17831	0.518000	0.22847	0.657000	0.30906	-0.339000	0.08088	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	0	0	0		2	2	2	0		0	0	30		30	29	1	2.060000	-8.034090	1	0.170000	NM_000360			6	5		182	181	0		1			0	0	30	0		9.645573e-01	0	0	0	0	0	0	6	182
TH	7054	broad.mit.edu	37	11	2189854	2189854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000333684.5_Silent_p.A122A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	149					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622																																						ENST00000381178.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(445-447)gcC>gcT		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						11.0	15.0	14.0					11																	2189854		2176	4284	6460	SO:0001819	synonymous_variant	7054	0	0					g.chr11:2189854G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.447C>T	chr11.hg19:g.2189854G>A		0					TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000381175.1_Silent_p.A145A	p.A149A	NM_199292.2	NP_954986.2	1	2	3	1.993097	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	4	465	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	1	1	hg19	c.447C>T	CCDS7731.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_000360			49	48		135	132	0		1			0	0	19	0		1	0	0	0	0	0	0	49	135
CD81	975	broad.mit.edu	37	11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGTGGGCGCTGTCATGATG	0.652																																						ENST00000263645.5	1.000000	0.180000	5.100000e-01	2.600000e-01	0.360000	0.402647	0.360000	0.350000																										0				5						c.(208-210)gCt>gAt		CD81 molecule							183.0	121.0	142.0					11																	2415352		2202	4299	6501	SO:0001583	missense	975	0	0					g.chr11:2415352C>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.209C>A	chr11.hg19:g.2415352C>A	ENSP00000263645:p.Ala70Asp	0					CD81_ENST00000526072.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000524805.1_3'UTR	p.A70D	NM_004356.3	NP_004347.1	1	2	3	1.993097	P60033	CD81_HUMAN		3	465	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	1	1	hg19	c.209C>A	CCDS7734.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466384|4.466384	0.84425|0.84425	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	3.67|3.67	3.67|3.67	0.42095|0.42095	3.67|3.67	3.67|3.67	0.42095|0.42095	Tetraspanin, conserved site (1);|.	0.060633|.	0.64402|.	D|.	0.000004|.	D|D	0.85535|0.85535	0.5719|0.5719	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.989|.	D|D	0.89969|0.89969	0.4092|0.4092	10|5	0.87932|.	D|.	0|.	.|.	14.4788|14.4788	0.67564|0.67564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;70|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	D|M	70;65;59;62;108;63;76|55	ENSP00000263645:A70D;ENSP00000435633:A65D;ENSP00000433767:A59D;ENSP00000432497:A62D;ENSP00000370424:A108D;ENSP00000432249:A63D;ENSP00000432033:A76D|.	ENSP00000263645:A70D|.	A|L	+|+	2|1	0|2	0|2	CD81|CD81	2371928|2371928	2371928|2371928	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.837000|0.837000	0.47467|0.47467	4.170000|4.170000	0.58229|0.58229	2.079000|2.079000	0.62486|0.62486	0.462000|0.462000	0.41574|0.41574	GCT|CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-10.373670	1	0.170000	NM_004356			10	10		326	324	0		1	1		0	0	47	0		9.968991e-01	1	0	65	0	3196	0	10	326
TRPM5	29850	broad.mit.edu	37	11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000155858.6	-	17	2611	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000155858.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2602-2604)cGc>cAc		transient receptor potential cation channel, subfamily M, member 5							60.0	63.0	62.0					11																	2432869		2202	4299	6501	SO:0001583	missense	29850	3	121322	34				g.chr11:2432869C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2603G>A	chr11.hg19:g.2432869C>T	ENSP00000155858:p.Arg868His	0					TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H	p.R868H	NM_014555.3	NP_055370.1	1	2	3	1.993097				17	2611	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		Missense_Mutation	SNP	ENST00000155858.6	1	1	hg19	c.2603G>A	CCDS31340.1	1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662312	0.67700	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	3.88	3.88	0.44766	3.88	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	L	0.58669	1.825	0.46203	D	0.998928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.99	T	0.80111	-0.1519	10	0.87932	D	0	-17.9194	9.5894	0.39537	0.0:0.8985:0.0:0.1015	.	868;870;868	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	862;868;870;868;868;868	ENSP00000434383:R862H;ENSP00000155858:R868H;ENSP00000387965:R870H;ENSP00000434121:R868H;ENSP00000436809:R868H	ENSP00000155858:R868H	R	-	2	0	0	TRPM5	2389445	2389445	0.974000	0.33945	0.946000	0.38457	0.592000	0.36648	3.638000	0.54332	2.120000	0.65058	0.491000	0.48974	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_014555			74	74		377	366	1		1	0		0	0	100	0		1	2.759355e-02	0	0	0	2	0	74	377
TRPM5	29850	broad.mit.edu	37	11	2436266	2436266	+	Silent	SNP	C	C	T	rs374016490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000155858.6	-	10	1499	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000528453.1_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12833	0.0		0.0	False		,,,				2504	0.0				NSCLC(1;49 61 17205 18850 43201)	ENST00000155858.6	1.000000	0.780000	1	9.900000e-01	0.990000	0.981818	0.990000	1.000000																										0				23						c.(1489-1491)ccG>ccA		transient receptor potential cation channel, subfamily M, member 5		C		2,4328		0,2,2163	17.0	22.0	20.0		1491	-7.3	0.0	11		20	0,8520		0,0,4260	no	coding-synonymous	TRPM5	NM_014555.3		0,2,6423	TT,TC,CC		0.0,0.0462,0.0156		497/1166	2436266	2,12848	2165	4260	6425	SO:0001819	synonymous_variant	29850	10	120004	38				g.chr11:2436266C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1491G>A	chr11.hg19:g.2436266C>T		0					TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000528453.1_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P	p.P497P	NM_014555.3	NP_055370.1	1	2	3	1.993097				10	1499	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		Silent	SNP	ENST00000155858.6	1	1	hg19	c.1491G>A	CCDS31340.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	1	0	1		2	2	2	0		0	0	25		25	22	1	2.060000	-8.499248	1	0.170000	NM_014555			18	17		152	151	0		1	0		0	0	25	0		9.999853e-01	1.262375e-02	0	0	0	2	0	18	152
KCNQ1	3784	broad.mit.edu	37	11	2606516	2606516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	369					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592																																						ENST00000155840.5	1.000000	0.370000	7.400000e-01	4.700000e-01	0.590000	0.613199	0.590000	0.570000																										0				21						c.(1105-1107)ccG>ccA		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						83.0	75.0	78.0					11																	2606516		2202	4299	6501	SO:0001819	synonymous_variant	3784	5	121408	37				g.chr11:2606516G>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1107G>A	chr11.hg19:g.2606516G>A		0					KCNQ1_ENST00000335475.5_Silent_p.P242P	p.P369P	NM_000218.2	NP_000209.2	1	2	3	1.993097	P51787	KCNQ1_HUMAN		8	1215	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	1	1	hg19	c.1107G>A	CCDS7736.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.001665	1	0.170000	NM_000218			20	20		388	383	0		1	1		0	0	77	0		9.999950e-01	9.926594e-01	0	9	0	145	0	20	388
CARS	833	broad.mit.edu	37	11	3059334	3059334	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3059334A>G	ENST00000397111.5	-	6	743	c.498T>C	c.(496-498)ctT>ctC	p.L166L	CARS_ENST00000401769.3_Silent_p.L179L|CARS_ENST00000380525.4_Silent_p.L249L|CARS_ENST00000278224.9_Silent_p.L166L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Silent_p.L156L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	166					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)		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)	CAGCTTTCTCAAGTGGCTCTG	0.517			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(61;932 1157 5961 20446 52152)	ENST00000397111.5	1.000000	0.130000	3.200000e-01	1.800000e-01	0.230000	0.275493	0.230000	0.230000				Dom	yes			Dom	yes		11	11p15.5	11p15.5	833	T	cysteinyl-tRNA synthetase				L	L	ALK		ALCL	CARS/ALK(5)	0				31						c.(496-498)ctT>ctC		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						160.0	140.0	147.0					11																	3059334		2202	4298	6500	SO:0001819	synonymous_variant	833	0	0					g.chr11:3059334A>G	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.498T>C	chr11.hg19:g.3059334A>G		0		OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000380525.4_Silent_p.L249L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Silent_p.L156L|CARS_ENST00000401769.3_Silent_p.L179L	p.L166L			1	2	3	1.993097	P49589	SYCC_HUMAN		6	743	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	0	1	hg19	c.498T>C	CCDS7742.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	0	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-10.608910	1	0.170000	NM_001751			14	13		697	689	0		1	1		0	0	124	0		9.997314e-01	8.558774e-01	0	4	0	171	0	14	697
OSBPL5	114879	broad.mit.edu	37	11	3128610	3128610	+	Silent	SNP	G	G	A	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000389989.3_Silent_p.T246T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	314					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612																																						ENST00000263650.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(940-942)acC>acT		oxysterol binding protein-like 5		G	,,	0,4404		0,0,2202	167.0	167.0	167.0		738,942,738	-9.0	0.0	11	dbSNP_134	167	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	,,	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	,,	246/812,314/880,246/812	3128610	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	114879	7	121412	45				g.chr11:3128610G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.942C>T	chr11.hg19:g.3128610G>A		0					OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.T246T	p.T314T	NM_020896.3	NP_065947.1	1	2	3	1.993097	Q9H0X9	OSBL5_HUMAN		9	1101	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	1	1	hg19	c.942C>T	CCDS31344.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2	1	0	1		2	2	2	0		0	0	194		194	192	1	2.060000	-2.544324	1	0.170000				220	215		937	924	1		1	1		0	0	194	0		1	1	0	23	0	154	0	220	937
MRGPRE	116534	broad.mit.edu	37	11	3249343	3249343	+	Silent	SNP	G	G	A	rs369020369		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	ENST00000389832.5	-	2	993	c.687C>T	c.(685-687)tgC>tgT	p.C229C	MRGPRE_ENST00000436689.2_Silent_p.C228C|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCAGGCCGCAGAAGAGGA	0.662																																						ENST00000389832.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999792	0.990000	1.000000																										0				19						c.(685-687)tgC>tgT		MAS-related GPR, member E		G		0,4106		0,0,2053	15.0	22.0	20.0		684	-0.4	0.0	11		20	1,8369		0,1,4184	no	coding-synonymous	MRGPRE	NM_001039165.2		0,1,6237	AA,AG,GG		0.0119,0.0,0.0080		228/312	3249343	1,12475	2053	4185	6238	SO:0001819	synonymous_variant	116534	1	120618	31				g.chr11:3249343G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.687C>T	chr11.hg19:g.3249343G>A		0					MRGPRE_ENST00000436689.2_Silent_p.C228C|AC109309.4_ENST00000418995.2_RNA	p.C229C			1	2	3	1.993097	Q86SM8	MRGRE_HUMAN		2	993	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Q2M1V7	Silent	SNP	ENST00000389832.5	1	1	hg19	c.687C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	XM_171536			14	14		51	50	1		1			0	0	13	0		9.998516e-01	0	0	0	0	0	0	14	51
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	MRGPRE_ENST00000436689.2_Silent_p.D63D|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647																																						ENST00000389832.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(190-192)gaC>gaT		MAS-related GPR, member E							82.0	100.0	94.0					11																	3249838		2124	4242	6366	SO:0001819	synonymous_variant	116534	4	121118	38				g.chr11:3249838G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.192C>T	chr11.hg19:g.3249838G>A		0					MRGPRE_ENST00000436689.2_Silent_p.D63D|AC109309.4_ENST00000418995.2_RNA	p.D64D			1	2	3	1.993097	Q86SM8	MRGRE_HUMAN		2	498	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Q2M1V7	Silent	SNP	ENST00000389832.5	1	1	hg19	c.192C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	XM_171536			104	102		493	483	1		1	0		0	0	113	0		1	0	0	0	0	1	0	104	493
ZNF195	7748	broad.mit.edu	37	11	3380552	3380552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	ENST00000399602.4	-	6	1812	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.F494F|ZNF195_ENST00000354599.6_Silent_p.F490F|ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000526601.1_Silent_p.F543F	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAATGTCTGAGAACCACATGA	0.393																																						ENST00000399602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1684-1686)ttC>ttT		zinc finger protein 195							116.0	118.0	118.0					11																	3380552		2065	4232	6297	SO:0001819	synonymous_variant	7748	0	0					g.chr11:3380552G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1686C>T	chr11.hg19:g.3380552G>A		0					ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000354599.6_Silent_p.F490F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000429541.2_Silent_p.F494F	p.F562F	NM_001130520.2	NP_001123992.1	1	2	3	1.993097	O14628	ZN195_HUMAN		6	1812	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	1	0	hg19	c.1686C>T	CCDS44522.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	0		2	2	2	0		0	0	120		120	120	1	2.060000	-3.190623	1	0.170000				98	97		405	399	0		1	1		0	0	120	0		1	9.998436e-01	0	14	0	41	0	98	405
ZNF195	7748	broad.mit.edu	37	11	3380642	3380642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000399602.4	-	6	1722	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.T464T|ZNF195_ENST00000354599.6_Silent_p.T460T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000526601.1_Silent_p.T513T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408																																						ENST00000399602.4	1.000000	0.740000	1	8.400000e-01	0.960000	0.937443	0.960000	1.000000																										0				17						c.(1594-1596)acC>acT		zinc finger protein 195							146.0	148.0	148.0					11																	3380642		2039	4221	6260	SO:0001819	synonymous_variant	7748	0	0					g.chr11:3380642G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1596C>T	chr11.hg19:g.3380642G>A		0					ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000354599.6_Silent_p.T460T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000429541.2_Silent_p.T464T	p.T532T	NM_001130520.2	NP_001123992.1	1	2	3	1.993097	O14628	ZN195_HUMAN		6	1722	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	1	1	hg19	c.1596C>T	CCDS44522.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	0		2	2	2	0		0	0	130		130	130	1	2.060000	-2.716734	1	0.170000				57	56		642	626	0		1	1		0	0	130	0		1	8.957060e-01	0	3	0	43	0	57	642
ZNF195	7748	broad.mit.edu	37	11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000399602.4	-	6	1244	c.1118A>C	c.(1117-1119)cAg>cCg	p.Q373P	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|ZNF195_ENST00000354599.6_Missense_Mutation_p.Q301P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	373				Missing (in Ref. 2; BAD18466). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423																																						ENST00000399602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1117-1119)cAg>cCg		zinc finger protein 195							126.0	117.0	120.0					11																	3381120		1895	4114	6009	SO:0001583	missense	7748	0	0					g.chr11:3381120T>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1118A>C	chr11.hg19:g.3381120T>G	ENSP00000382511:p.Gln373Pro	0					ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000354599.6_Missense_Mutation_p.Q301P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P	p.Q373P	NM_001130520.2	NP_001123992.1	1	2	3	1.993097	O14628	ZN195_HUMAN		6	1244	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	1	1	hg19	c.1118A>C	CCDS44522.1	1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.354863	0.24512	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	0.501	0.501	0.16925	0.501	0.501	0.16925	.	.	.	.	.	T	0.36524	0.0970	M	0.82823	2.61	0.23070	N	0.998342	P;P;D;P;P;P	0.53462	0.597;0.797;0.96;0.871;0.824;0.871	P;B;D;B;P;B	0.64237	0.679;0.088;0.923;0.18;0.84;0.18	T	0.10268	-1.0637	9	0.87932	D	0	.	5.265	0.15593	0.0:1.0E-4:0.0:0.9999	.	354;232;350;305;373;301	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	301;373;305;305;350;354	ENSP00000346613:Q301P;ENSP00000382511:Q373P;ENSP00000344483:Q305P;ENSP00000387998:Q305P;ENSP00000005082:Q350P;ENSP00000435828:Q354P	ENSP00000005082:Q350P	Q	-	2	0	0	ZNF195	3337696	3337696	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	0.053000	0.14184	0.431000	0.26258	0.254000	0.18369	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	1		2	2	2	0		0	0	169		169	167	1	2.060000	-20.000000	1	0.170000				148	148		644	631	1		1	1		0	0	169	0		1	9.982339e-01	0	8	0	35	0	148	644
ZNF195	7748	broad.mit.edu	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000399602.4	-	6	875	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299																																						ENST00000399602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(748-750)gGc>gAc		zinc finger protein 195							55.0	54.0	55.0					11																	3381489		1934	4156	6090	SO:0001583	missense	7748	0	0					g.chr11:3381489C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.749G>A	chr11.hg19:g.3381489C>T	ENSP00000382511:p.Gly250Asp	0					ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D	p.G250D	NM_001130520.2	NP_001123992.1	1	2	3	1.993097	O14628	ZN195_HUMAN		6	875	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	1	1	hg19	c.749G>A	CCDS44522.1	1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	0	ZNF195	3338065	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.176513	1	0.170000				54	52		246	241	1		1	1		0	0	48	0		1	9.874263e-01	0	11	0	23	0	54	246
CHRNA10	57053	broad.mit.edu	37	11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000250699.2	-	4	816	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Silent_p.C66C|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	249					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)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				7						c.(745-747)Ctc>Ttc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)						23.0	25.0	25.0					11																	3688612		2192	4289	6481	SO:0001583	missense	57053	0	0					g.chr11:3688612G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.745C>T	chr11.hg19:g.3688612G>A	ENSP00000250699:p.Leu249Phe	0					CHRNA10_ENST00000534359.1_Silent_p.C66C|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	p.L249F	NM_020402.2	NP_065135.2	1	2	3	1.993097	Q9GZZ6	ACH10_HUMAN		4	816	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		Missense_Mutation	SNP	ENST00000250699.2	1	1	hg19	c.745C>T	CCDS7745.1	1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141562	0.37825	.	.	ENSG00000129749	ENST00000250699	D	0.91464	-2.85	5.33	4.41	0.53225	5.33	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.377447	0.20813	N	0.085212	D	0.90198	0.6936	M	0.69185	2.1	0.80722	D	1	B	0.34399	0.452	P	0.44477	0.451	D	0.87106	0.2182	10	0.39692	T	0.17	.	6.2434	0.20803	0.0913:0.0:0.6228:0.2859	.	249	Q9GZZ6	ACH10_HUMAN	F	249	ENSP00000250699:L249F	ENSP00000250699:L249F	L	-	1	0	0	CHRNA10	3645188	3645188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	1.214000	0.43395	0.561000	0.74099	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2	1	0	0		2	2	2	0		0	0	19		19	16	1	2.060000	-20.000000	1	0.170000				28	28		124	120	0		1			0	0	19	0		1	0	0	0	0	0	0	28	124
CHRNA10	57053	broad.mit.edu	37	11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000250699.2	-	4	720	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Silent_p.T34T|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	217					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)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999890	0.990000	1.000000																										0				7						c.(649-651)Ggc>Agc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)						11.0	14.0	13.0					11																	3688708		2136	4186	6322	SO:0001583	missense	57053	0	0					g.chr11:3688708C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.649G>A	chr11.hg19:g.3688708C>T	ENSP00000250699:p.Gly217Ser	0					CHRNA10_ENST00000534359.1_Silent_p.T34T|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	p.G217S	NM_020402.2	NP_065135.2	1	2	3	1.993097	Q9GZZ6	ACH10_HUMAN		4	720	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		Missense_Mutation	SNP	ENST00000250699.2	1	1	hg19	c.649G>A	CCDS7745.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216189	0.79352	.	.	ENSG00000129749	ENST00000250699	T	0.80393	-1.37	5.22	5.22	0.72569	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000025	T	0.81192	0.4771	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75238	-0.3388	10	0.07990	T	0.79	.	17.3358	0.87280	0.0:1.0:0.0:0.0	.	217	Q9GZZ6	ACH10_HUMAN	S	217	ENSP00000250699:G217S	ENSP00000250699:G217S	G	-	1	0	0	CHRNA10	3645284	3645284	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.433000	0.82419	0.561000	0.74099	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				23	23		117	116	0		1			0	0	25	0		9.999997e-01	0	0	0	0	0	0	23	117
NUP98	4928	broad.mit.edu	37	11	3697446	3697446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3697446G>A	ENST00000324932.7	-	33	5766	c.5346C>T	c.(5344-5346)gaC>gaT	p.D1782D	NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1799					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)			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)		TGCGCAGTTCGTCCATGGCAT	0.582			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7	1.000000	0.150000	4.200000e-01	2.100000e-01	0.300000	0.337921	0.300000	0.290000				Dom	yes			Dom	yes		11	11p15	11p15	4928	T	nucleoporin 98kDa				L	L	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11		AML		0				66						c.(5344-5346)gaC>gaT		nucleoporin 98kDa							86.0	81.0	83.0					11																	3697446		2201	4298	6499	SO:0001819	synonymous_variant	4928	1	121412	30				g.chr11:3697446G>A	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.5346C>T	chr11.hg19:g.3697446G>A		0					NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	p.D1782D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	1	2	3	1.993097	P52948	NUP98_HUMAN		33	5766	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	0	1	hg19	c.5346C>T	CCDS7746.1	0	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040427	0.07497	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.66	-5.9	0.02275	5.66	-5.9	0.02275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.5892	0.7825	0.01043	0.1843:0.3352:0.1852:0.2953	.	.	.	.	X	735	.	.	R	-	1	2	2	NUP98	3654022	3654022	0.998000	0.40836	0.816000	0.32577	0.647000	0.38526	0.587000	0.23909	-1.198000	0.02669	-2.363000	0.00238	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-9.278311	1	0.170000	NM_016320			10	10		400	393	0		1	0		0	0	70	0		9.966847e-01	9.666310e-01	0	1	0	234	0	10	400
NUP98	4928	broad.mit.edu	37	11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	249	FG repeats 2.|Gly/Thr-rich.				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)			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)		ATATGCAAAGCCTGAATTAGT	0.448			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999841	0.990000	1.000000				Dom	yes			Dom	yes		11	11p15	11p15	4928	T	nucleoporin 98kDa				L	L	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11		AML		0				66						c.(745-747)gGc>gAc		nucleoporin 98kDa							126.0	119.0	122.0					11																	3793016		2201	4298	6499	SO:0001583	missense	4928	0	0					g.chr11:3793016C>T	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.746G>A	chr11.hg19:g.3793016C>T	ENSP00000316032:p.Gly249Asp	0					NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	1	2	3	1.993097	P52948	NUP98_HUMAN		7	1166	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	1	1	hg19	c.746G>A	CCDS7746.1	1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509444	0.64522	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.72	4.79	0.61399	5.72	4.79	0.61399	.	0.240110	0.42420	D	0.000701	T	0.58119	0.2100	M	0.76838	2.35	0.31610	N	0.651631	P;P;B;P;P	0.39903	0.568;0.649;0.069;0.694;0.694	B;B;B;B;B	0.41299	0.193;0.322;0.082;0.353;0.353	T	0.68100	-0.5498	9	0.42905	T	0.14	.	15.1002	0.72269	0.0:0.8525:0.1475:0.0	.	249;249;249;249;249	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	D	249	.	ENSP00000316032:G249D	G	-	2	0	0	NUP98	3749592	3749592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.261000	0.43276	1.388000	0.46506	0.655000	0.94253	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-17.429100	1	0.170000	NM_016320			38	38		248	237	1		1	1		0	0	55	0		1	9.999940e-01	0	27	0	95	0	38	248
NUP98	4928	broad.mit.edu	37	11	3800140	3800140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N|RNU7-50P_ENST00000459175.1_RNA	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	106	FG repeats 1.|Gly/Thr-rich.				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)			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)		CAAAGGCATTGTTTTGGGATG	0.443			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998886	0.990000	1.000000				Dom	yes			Dom	yes		11	11p15	11p15	4928	T	nucleoporin 98kDa				L	L	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11		AML		0				66						c.(316-318)aaC>aaT		nucleoporin 98kDa							165.0	157.0	160.0					11																	3800140		2201	4298	6499	SO:0001819	synonymous_variant	4928	0	0					g.chr11:3800140G>A	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.318C>T	chr11.hg19:g.3800140G>A		0					RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	1	2	3	1.993097	P52948	NUP98_HUMAN		4	738	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	1	1	hg19	c.318C>T	CCDS7746.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	0	1		18	6	2	1		1	1	98		98	97	1	2.060000	-19.393590	1	0.170000	NM_016320			57	57		462	450	1		1	1		1	0	98	0		9.999992e-01	9.748509e-01	0	15	0	92	0	57	462
STIM1	6786	broad.mit.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582																																						ENST00000300737.4	1.000000	0.230000	5.600000e-01	3.100000e-01	0.410000	0.448262	0.410000	0.400000																										0				30						c.(1300-1302)Gag>Aag		stromal interaction molecule 1							95.0	87.0	89.0					11																	4104554		2201	4298	6499	SO:0001583	missense	6786	0	0					g.chr11:4104554G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1300G>A	chr11.hg19:g.4104554G>A	ENSP00000300737:p.Glu434Lys	0					STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	p.E434K	NM_003156.3	NP_003147.2	1	2	3	1.993097	Q13586	STIM1_HUMAN		10	1869	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	1	1	hg19	c.1300G>A	CCDS7749.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	0	STIM1	4061130	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.109360	1	0.170000	NM_003156			13	13		368	362	0		1	1		0	0	68	0		9.995034e-01	9.887405e-01	0	10	0	204	0	13	368
RRM1	6240	broad.mit.edu	37	11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	126					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)			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)	TATTGTTCTGGCCAATAAAGA	0.323																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(376-378)Gcc>Acc		ribonucleotide reductase M1	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						84.0	87.0	86.0					11																	4128754		2201	4297	6498	SO:0001583	missense	6240	0	0					g.chr11:4128754G>A	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.376G>A	chr11.hg19:g.4128754G>A	ENSP00000300738:p.Ala126Thr	0					RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	p.A126T	NM_001033.3	NP_001024.1	1	2	3	1.993097	P23921	RIR1_HUMAN		4	580	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	1	1	hg19	c.376G>A	CCDS7750.1	1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764826	0.69878	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	T;T	0.31510	1.49;1.52	6.07	5.17	0.71159	6.07	5.17	0.71159	Ribonucleotide reductase R1 subunit, N-terminal (1);	0.048798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56340	1.77	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05354	-1.0890	9	.	.	.	-4.3347	14.2372	0.65934	0.0706:0.0:0.9294:0.0	.	126	P23921	RIR1_HUMAN	T	126;29	ENSP00000300738:A126T;ENSP00000390539:A29T	.	A	+	1	0	0	RRM1	4085330	4085330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.091000	0.94151	1.582000	0.49881	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.467790	1	0.170000	NM_001033			62	62		270	266	1		1	1		0	0	75	0		1	1	0	39	0	126	0	62	270
OR52B4	143496	broad.mit.edu	37	11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	164					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)			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)		CTTTTTAAAAGAAATATGATA	0.353																																						ENST00000408920.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(490-492)Ctt>Att		olfactory receptor, family 52, subfamily B, member 4							63.0	61.0	62.0					11																	4389036		1822	4076	5898	SO:0001583	missense	143496	0	0					g.chr11:4389036G>T	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.490C>A	chr11.hg19:g.4389036G>T	ENSP00000386160:p.Leu164Ile	0						p.L164I	NM_001005161.3	NP_001005161.2	1	2	3	1.993097	Q8NGK2	O52B4_HUMAN		1	580	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	1	1	hg19	c.490C>A	CCDS41609.1	1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228910	0.22542	.	.	ENSG00000221996	ENST00000408920	T	0.00099	8.73	5.29	1.18	0.20946	5.29	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00412	0.0013	M	0.89601	3.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	2.8409	0.05528	0.2182:0.1229:0.5331:0.1258	.	164	Q8NGK2	O52B4_HUMAN	I	164	ENSP00000386160:L164I	ENSP00000386160:L164I	L	-	1	0	0	OR52B4	4345612	4345612	0.017000	0.18338	0.330000	0.25442	0.003000	0.03518	0.641000	0.24720	0.390000	0.25115	-0.140000	0.14226	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_001005161			76	75		365	360	1		1			0	0	75	0		1	0	0	0	0	0	0	76	365
OR52I2	143502	broad.mit.edu	37	11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TCACTGAGTGCCATGTACATC	0.493																																						ENST00000312614.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(187-189)gCc>gAc		olfactory receptor, family 52, subfamily I, member 2							247.0	241.0	243.0					11																	4608230		2201	4298	6499	SO:0001583	missense	143502	0	0					g.chr11:4608230C>A	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.188C>A	chr11.hg19:g.4608230C>A	ENSP00000308764:p.Ala63Asp	0						p.A63D	NM_001005170.2	NP_001005170.1	1	2	3	1.993097	Q8NH67	O52I2_HUMAN		1	210	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	1	1	hg19	c.188C>A	CCDS31355.1	1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112313	0.08831	.	.	ENSG00000226288	ENST00000312614	T	0.01106	5.33	4.1	-1.4	0.08968	4.1	-1.4	0.08968	.	1.354880	0.05027	N	0.473901	T	0.01940	0.0061	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.23574	0.047	T	0.47459	-0.9116	10	0.35671	T	0.21	-0.0649	8.724	0.34458	0.0:0.4359:0.0:0.5641	.	63	Q8NH67	O52I2_HUMAN	D	63	ENSP00000308764:A63D	ENSP00000308764:A63D	A	+	2	0	0	OR52I2	4564806	4564806	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	-1.719000	0.01873	-0.171000	0.10797	0.552000	0.68991	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	1	0	1		2	2	2	0		0	0	242		242	265	1	2.060000	-20.000000	1	0.170000	NM_001005170			170	163		909	850	1		1			0	0	242	0		1	0	0	0	0	0	0	170	909
OR52I2	143502	broad.mit.edu	37	11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|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)		GATCATCCCAGCCACCTTAAA	0.522																																						ENST00000312614.4	1.000000	0.770000	1	8.800000e-01	0.990000	0.955750	0.990000	1.000000																										0				19						c.(946-948)Gcc>Tcc		olfactory receptor, family 52, subfamily I, member 2							198.0	187.0	191.0					11																	4608988		2201	4298	6499	SO:0001583	missense	143502	0	0					g.chr11:4608988G>T	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.946G>T	chr11.hg19:g.4608988G>T	ENSP00000308764:p.Ala316Ser	0						p.A316S	NM_001005170.2	NP_001005170.1	1	2	3	1.993097	Q8NH67	O52I2_HUMAN		1	968	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	1	1	hg19	c.946G>T	CCDS31355.1	1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245293	0.22796	.	.	ENSG00000226288	ENST00000312614	T	0.62788	-0.0	4.18	2.29	0.28610	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.499351	0.16881	N	0.195686	T	0.41026	0.1141	N	0.12182	0.205	0.25894	N	0.983433	B	0.22003	0.063	B	0.17433	0.018	T	0.35943	-0.9768	10	0.87932	D	0	-4.6209	8.0732	0.30701	0.0:0.7377:0.1695:0.0927	.	316	Q8NH67	O52I2_HUMAN	S	316	ENSP00000308764:A316S	ENSP00000308764:A316S	A	+	1	0	0	OR52I2	4565564	4565564	0.000000	0.05858	0.973000	0.42090	0.344000	0.29017	-0.301000	0.08232	0.429000	0.26202	-0.936000	0.02699	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	1	0	1		2	2	2	0		0	0	184		184	181	1	2.060000	-15.643140	1	0.170000	NM_001005170			64	64		695	680	0		1			0	0	184	0		1	0	0	0	0	0	0	64	695
OR52I1	390037	broad.mit.edu	37	11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000530443.2	+	1	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GATTCCACTCGGCATGAGCCC	0.512																																						ENST00000530443.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(175-177)cGg>cAg		olfactory receptor, family 52, subfamily I, member 1							165.0	142.0	150.0					11																	4615444		2201	4298	6499	SO:0001583	missense	390037	8	121412	42				g.chr11:4615444G>A	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.176G>A	chr11.hg19:g.4615444G>A	ENSP00000436453:p.Arg59Gln	0					OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	p.R59Q	NM_001005169.1	NP_001005169.1	1	2	3	1.993097	Q8NGK6	O52I1_HUMAN		1	176	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	1	1	hg19	c.176G>A	CCDS59223.1	1	.	.	.	.	.	.	.	.	.	.	g	7.180	0.589398	0.13812	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.02974	4.09;4.09	4.63	2.24	0.28232	4.63	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002662	T	0.01661	0.0053	N	0.08118	0	0.18873	N	0.999988	B	0.20780	0.048	B	0.12837	0.008	T	0.30851	-0.9964	9	0.87932	D	0	-0.5677	5.7199	0.17980	0.0:0.0885:0.3218:0.5897	.	59	Q8NGK6	O52I1_HUMAN	Q	83;59	ENSP00000409094:R83Q;ENSP00000436453:R59Q	ENSP00000409094:R83Q	R	+	2	0	0	OR52I1	4572020	4572020	0.042000	0.20092	0.689000	0.30133	0.062000	0.15995	0.900000	0.28431	0.022000	0.15160	-2.279000	0.00272	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	1	0	1		2	2	2	0		0	0	137		137	165	1	2.060000	-4.373545	1	0.170000	NM_001005169			180	164		607	532	1		1			0	0	137	0		1	0	0	0	0	0	0	180	607
OR52I1	390037	broad.mit.edu	37	11	4615645	4615645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	ENST00000530443.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	OR52I1_ENST00000450052.2_Missense_Mutation_p.R150H	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, 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)			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)		GCTTTTGACCGCTATGTAGCC	0.502																																						ENST00000530443.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				15						c.(376-378)cGc>cAc		olfactory receptor, family 52, subfamily I, member 1							49.0	44.0	46.0					11																	4615645		2200	4278	6478	SO:0001583	missense	390037	8	121404	35				g.chr11:4615645G>A	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.377G>A	chr11.hg19:g.4615645G>A	ENSP00000436453:p.Arg126His	0					OR52I1_ENST00000450052.2_Missense_Mutation_p.R150H	p.R126H	NM_001005169.1	NP_001005169.1	1	2	3	1.993097	Q8NGK6	O52I1_HUMAN		1	377	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	0	1	hg19	c.377G>A	CCDS59223.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498814	0.64298	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	D;D	0.97161	-4.27;-4.27	4.96	4.05	0.47172	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000351	D	0.98501	0.9500	M	0.92459	3.31	0.35022	D	0.757953	D	0.89917	1.0	D	0.68765	0.96	D	0.99944	1.1445	9	0.62326	D	0.03	-0.2042	11.6875	0.51494	0.0865:0.0:0.9135:0.0	.	126	Q8NGK6	O52I1_HUMAN	H	150;126	ENSP00000409094:R150H;ENSP00000436453:R126H	ENSP00000409094:R150H	R	+	2	0	0	OR52I1	4572221	4572221	0.442000	0.25633	1.000000	0.80357	0.682000	0.39822	3.290000	0.51755	1.470000	0.48102	-0.226000	0.12346	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	0	0	1		2	2	2	0		0	0	29		29	53	1	2.060000	-18.544950	1	0.170000	NM_001005169			35	25		185	154	0		1			0	0	29	0		1	0	0	0	0	0	0	35	185
OR52I1	390037	broad.mit.edu	37	11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000530443.2	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		ATAGCTTTGGCCAGGTTAGCA	0.502																																						ENST00000530443.2	1.000000	0.280000	5.100000e-01	3.400000e-01	0.410000	0.442603	0.410000	0.410000																										0				15						c.(565-567)gCc>gTc		olfactory receptor, family 52, subfamily I, member 1							195.0	182.0	186.0					11																	4615834		2201	4298	6499	SO:0001583	missense	390037	0	0					g.chr11:4615834C>T	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.566C>T	chr11.hg19:g.4615834C>T	ENSP00000436453:p.Ala189Val	0					OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	p.A189V	NM_001005169.1	NP_001005169.1	1	2	3	1.993097	Q8NGK6	O52I1_HUMAN		1	566	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	1	1	hg19	c.566C>T	CCDS59223.1	0	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740802	0.30865	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73047	-0.71;-0.71	4.96	4.01	0.46588	4.96	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55033	0.1895	L	0.31371	0.925	0.28777	N	0.900046	B	0.22276	0.067	B	0.25140	0.058	T	0.58978	-0.7540	9	0.33940	T	0.23	-8.131	6.7541	0.23503	0.0:0.7797:0.0:0.2203	.	189	Q8NGK6	O52I1_HUMAN	V	213;189	ENSP00000409094:A213V;ENSP00000436453:A189V	ENSP00000409094:A213V	A	+	2	0	0	OR52I1	4572410	4572410	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.420000	0.21263	1.371000	0.46172	0.555000	0.69702	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	0	0	1		2	2	2	0		0	0	179		179	189	1	2.060000	-2.574418	1	0.170000	NM_001005169			30	28		834	802	0		1			0	0	179	0		1	0	0	0	0	0	0	30	834
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552																																						ENST00000300747.5	1.000000	0.500000	8.900000e-01	6.100000e-01	0.730000	0.748307	0.730000	1.000000																										0				15						c.(361-363)agC>agT		tripartite motif containing 68							117.0	100.0	106.0					11																	4626372		2201	4298	6499	SO:0001819	synonymous_variant	55128	0	0					g.chr11:4626372G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.363C>T	chr11.hg19:g.4626372G>A		0						p.S121S	NM_018073.6	NP_060543.5	1	2	3	1.993097	Q6AZZ1	TRI68_HUMAN		2	652	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	1	1	hg19	c.363C>T	CCDS31356.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	0	0	1		2	2	2	0		0	0	91		91	92	1	2.060000	-6.831704	1	0.170000	NM_018073			30	30		458	448	0		1	0		0	0	91	0		1	1.294872e-01	0	1	0	9	0	30	458
TRIM68	55128	broad.mit.edu	37	11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	9					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512																																						ENST00000300747.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(25-27)Gcc>Tcc		tripartite motif containing 68							90.0	76.0	80.0					11																	4626710		2201	4298	6499	SO:0001583	missense	55128	0	0					g.chr11:4626710C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.25G>T	chr11.hg19:g.4626710C>A	ENSP00000300747:p.Ala9Ser	0						p.A9S	NM_018073.6	NP_060543.5	1	2	3	1.993097	Q6AZZ1	TRI68_HUMAN		2	314	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	1	1	hg19	c.25G>T	CCDS31356.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256711	0.39896	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84223	-1.82;-1.82	4.41	3.4	0.38934	4.41	3.4	0.38934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.43416	D	0.000562	T	0.74824	0.3767	N	0.04655	-0.195	0.30812	N	0.738715	D;B	0.69078	0.997;0.192	P;B	0.55785	0.784;0.1	T	0.69873	-0.5027	10	0.16896	T	0.51	.	9.5446	0.39273	0.0:0.7847:0.2153:0.0	.	9;9	E9PR29;Q6AZZ1	.;TRI68_HUMAN	S	9	ENSP00000300747:A9S;ENSP00000436112:A9S	ENSP00000300747:A9S	A	-	1	0	0	TRIM68	4583286	4583286	0.002000	0.14202	0.995000	0.50966	0.957000	0.61999	0.808000	0.27154	2.387000	0.81309	0.549000	0.68633	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.328724	1	0.170000	NM_018073			62	63		327	320	1		1	0		0	0	74	0		1	8.271465e-01	0	1	0	18	0	62	327
OR51E1	143503	broad.mit.edu	37	11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000396952.5	+	2	1002	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		ATCCACAGTGCTGCTGGCCAT	0.522																																						ENST00000396952.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(352-354)Ctg>Atg		olfactory receptor, family 51, subfamily E, member 1							113.0	83.0	93.0					11																	4674108		2201	4298	6499	SO:0001583	missense	143503	0	0					g.chr11:4674108C>A	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.352C>A	chr11.hg19:g.4674108C>A	ENSP00000380155:p.Leu118Met	0					OR51E1_ENST00000530215.1_Intron	p.L118M	NM_152430.3	NP_689643.2	1	2	3	1.993097	Q8TCB6	O51E1_HUMAN		2	1002	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	1	1	hg19	c.352C>A	CCDS31358.2	1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388700	0.61956	.	.	ENSG00000180785	ENST00000396952	D	0.86366	-2.11	4.66	2.8	0.32819	4.66	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	D	0.93690	0.7984	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	9.6807	0.40067	0.0:0.8297:0.0:0.1703	.	117	Q8TCB6	O51E1_HUMAN	M	118	ENSP00000380155:L118M	ENSP00000380155:L118M	L	+	1	2	2	OR51E1	4630684	4630684	0.454000	0.25728	0.997000	0.53966	0.989000	0.77384	1.137000	0.31479	0.593000	0.29745	0.655000	0.94253	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_152430			62	62		269	261	1		1	0		0	0	63	0		1	2.403277e-01	0	0	0	5	0	62	269
OR51E2	81285	broad.mit.edu	37	11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	218					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)			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)		TATTATCAGAAAATAGGACAA	0.488																																						ENST00000396950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(652-654)tTt>tCt		olfactory receptor, family 51, subfamily E, member 2							93.0	83.0	86.0					11																	4703289		2201	4298	6499	SO:0001583	missense	81285	0	0					g.chr11:4703289A>G	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.653T>C	chr11.hg19:g.4703289A>G	ENSP00000380153:p.Phe218Ser	0						p.F218S	NM_030774.3	NP_110401.1	1	2	3	1.993097	Q9H255	O51E2_HUMAN		2	892	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	1	1	hg19	c.653T>C	CCDS7751.1	1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960941	0.53400	.	.	ENSG00000167332	ENST00000396950	T	0.00048	8.82	4.97	3.84	0.44239	4.97	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00073	0.0002	N	0.02169	-0.655	0.09310	N	1	P	0.43662	0.814	B	0.41988	0.372	T	0.49835	-0.8897	10	0.54805	T	0.06	.	9.4954	0.38984	0.9156:0.0:0.0844:0.0	.	218	Q9H255	O51E2_HUMAN	S	218	ENSP00000380153:F218S	ENSP00000380153:F218S	F	-	2	0	0	OR51E2	4659865	4659865	0.000000	0.05858	0.905000	0.35620	0.927000	0.56198	1.157000	0.31724	0.919000	0.36945	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_030774			68	66		256	249	1		1	0		0	0	77	0		1	0	0	0	0	1	0	68	256
OR51F1	256892	broad.mit.edu	37	11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000380383.1	-	1	951	c.952A>G	c.(952-954)Aca>Gca	p.T318A	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GTTCATTTTGTAAGCAGCAGA	0.423																																						ENST00000380383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(952-954)Aca>Gca		olfactory receptor, family 51, subfamily F, member 1							87.0	83.0	84.0					11																	4790217		2201	4298	6499	SO:0001583	missense	256892	0	0					g.chr11:4790217T>C	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.952A>G	chr11.hg19:g.4790217T>C	ENSP00000369744:p.Thr318Ala	0					MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000380390.1_Intron	p.T318A			1	2	3	1.993097	A6NGY5	O51F1_HUMAN		1	951	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Missense_Mutation	SNP	ENST00000380383.1	1	1	hg19	c.952A>G		1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436733	0.00182	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00002	9.85;9.85	5.2	-7.56	0.01322	5.2	-7.56	0.01322	.	1.837620	0.02621	N	0.103194	T	0.00039	0.0001	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	10	0.07813	T	0.8	.	1.1005	0.01683	0.3628:0.2485:0.0937:0.295	.	318	A6NGY5	O51F1_HUMAN	A	311;318	ENSP00000345163:T311A;ENSP00000369744:T318A	ENSP00000345163:T311A	T	-	1	0	0	OR51F1	4746793	4746793	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.691000	0.05133	-1.941000	0.01042	-1.255000	0.01485	ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_001004752			63	62		258	251	1		1			0	0	57	0		1	0	0	0	0	0	0	63	258
OR52R1	119695	broad.mit.edu	37	11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000356069.2	-	1	555	c.556G>A	c.(556-558)Gct>Act	p.A186T	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522																																						ENST00000356069.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(556-558)Gct>Act		olfactory receptor, family 52, subfamily R, member 1							169.0	129.0	143.0					11																	4825055		2201	4298	6499	SO:0001583	missense	119695	0	0					g.chr11:4825055C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.556G>A	chr11.hg19:g.4825055C>T	ENSP00000348368:p.Ala186Thr	0					MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T|MMP26_ENST00000380390.1_Intron	p.A186T	NM_001005177.3	NP_001005177.3	1	2	3	1.993097	Q8NGF1	O52R1_HUMAN		1	555	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	1	1	hg19	c.556G>A	CCDS31360.2	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00130	8.69;8.69	5.46	4.53	0.55603	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00666	0.0022	M	0.93462	3.42	0.31836	N	0.624071	D	0.76494	0.999	D	0.76071	0.987	T	0.06197	-1.0840	10	0.87932	D	0	.	14.3226	0.66496	0.1497:0.8503:0.0:0.0	.	186	Q8NGF1	O52R1_HUMAN	T	186;265	ENSP00000348368:A186T;ENSP00000369742:A265T	ENSP00000348368:A186T	A	-	1	0	0	OR52R1	4781631	4781631	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.389000	0.20751	1.505000	0.48720	0.650000	0.86243	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_001005177			96	94		384	378	1		1			0	0	79	0		1	0	0	0	0	0	0	96	384
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TCGTGGCTATCTGTAACCCAC	0.488																																						ENST00000322049.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(382-384)atC>atT		olfactory receptor, family 51, subfamily T, member 1							151.0	128.0	136.0					11																	4903513		2201	4298	6499	SO:0001819	synonymous_variant	401665	0	0					g.chr11:4903513C>T	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.384C>T	chr11.hg19:g.4903513C>T		0					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000380390.1_Intron	p.I128I			1	2	3	1.993097	Q8NGJ9	O51T1_HUMAN		1	384	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Q6IFH9	Silent	SNP	ENST00000322049.1	1	1	hg19	c.384C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_001004759			89	87		436	426	1		1			0	0	82	0		1	0	0	0	0	0	0	89	436
OR51T1	401665	broad.mit.edu	37	11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000322049.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, 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)			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)		TTATTCTTTTCTCCTATGTCC	0.438																																						ENST00000322049.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(652-654)ttC>ttA		olfactory receptor, family 51, subfamily T, member 1							96.0	88.0	91.0					11																	4903783		2201	4298	6499	SO:0001583	missense	401665	0	0					g.chr11:4903783C>A	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.654C>A	chr11.hg19:g.4903783C>A	ENSP00000322679:p.Phe218Leu	0					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L|MMP26_ENST00000380390.1_Intron	p.F218L			1	2	3	1.993097	Q8NGJ9	O51T1_HUMAN		1	654	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	1	1	hg19	c.654C>A		1	.	.	.	.	.	.	.	.	.	.	C	2.468	-0.322523	0.05350	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37584	1.19;1.19	4.99	2.06	0.26882	4.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.671673	0.13049	N	0.417881	T	0.10508	0.0257	N	0.02111	-0.68	0.33486	D	0.588027	B	0.09022	0.002	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	4.0786	0.09916	0.2879:0.4944:0.1396:0.0781	.	218	Q8NGJ9	O51T1_HUMAN	L	245;218	ENSP00000369738:F245L;ENSP00000322679:F218L	ENSP00000322679:F218L	F	+	3	2	2	OR51T1	4860359	4860359	0.003000	0.15002	1.000000	0.80357	0.951000	0.60555	-0.511000	0.06321	0.273000	0.22049	0.484000	0.47621	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_001004759			56	56		285	276	1		1			0	0	54	0		1	0	0	0	0	0	0	56	285
OR51A7	119687	broad.mit.edu	37	11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473																																						ENST00000359350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(697-699)aGg>aTg		olfactory receptor, family 51, subfamily A, member 7							238.0	205.0	216.0					11																	4929297		2201	4298	6499	SO:0001583	missense	119687	0	0					g.chr11:4929297G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.698G>T	chr11.hg19:g.4929297G>T	ENSP00000352305:p.Arg233Met	0					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.R233M	NM_001004749.1	NP_001004749.1	1	2	3	1.993097	Q8NH64	O51A7_HUMAN		1	698	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	1	1	hg19	c.698G>T	CCDS31364.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734199	0.30684	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.46451	0.87	5.02	4.09	0.47781	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.66607	0.2806	M	0.93283	3.4	0.09310	N	1	D	0.60575	0.988	P	0.60286	0.872	T	0.63541	-0.6614	10	0.87932	D	0	.	10.1619	0.42858	0.1499:0.0:0.8501:0.0	.	233	Q8NH64	O51A7_HUMAN	M	233;233;222	ENSP00000352305:R233M	ENSP00000352305:R233M	R	+	2	0	0	OR51A7	4885873	4885873	0.007000	0.16637	0.666000	0.29783	0.234000	0.25298	1.580000	0.36547	2.596000	0.87737	0.655000	0.94253	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_001004749			125	122		624	614	1		1			0	0	128	0		1	0	0	0	0	0	0	125	624
MMP26	56547	broad.mit.edu	37	11	5009471	5009471	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	10					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)	GAGTTACTATCTTCTTGCCCT	0.488											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000380390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(28-30)atC>atA		matrix metallopeptidase 26	Marimastat(DB00786)						307.0	242.0	264.0					11																	5009471		2201	4298	6499	SO:0001819	synonymous_variant	56547	0	0					g.chr11:5009471C>A	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.30C>A	chr11.hg19:g.5009471C>A		0		OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	623	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron	p.I10I			1	2	3	1.993097	Q9NRE1	MMP26_HUMAN		2	246	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	1	1	hg19	c.30C>A	CCDS7752.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_021801			98	96		492	478	1		1			0	0	107	0		1	0	0	0	0	0	0	98	492
MMP26	56547	broad.mit.edu	37	11	5011082	5011082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	ENST00000380390.1	+	3	520	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	102					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)	GTGGAATAAGCACACTCTAAC	0.527																																						ENST00000380390.1	1.000000	0.280000	8.400000e-01	4.100000e-01	0.590000	0.622023	0.590000	1.000000																										0				22						c.(304-306)Cac>Tac		matrix metallopeptidase 26	Marimastat(DB00786)						63.0	53.0	56.0					11																	5011082		2201	4298	6499	SO:0001583	missense	56547	0	0					g.chr11:5011082C>T	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.304C>T	chr11.hg19:g.5011082C>T	ENSP00000369753:p.His102Tyr	0					MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y	p.H102Y			1	2	3	1.993097	Q9NRE1	MMP26_HUMAN		3	520	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	0	1	hg19	c.304C>T	CCDS7752.1	0	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518199	0.13005	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.73	-4.56	0.03431	3.73	-4.56	0.03431	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.474640	0.04758	N	0.425797	T	0.13072	0.0317	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	9	.	.	.	0.2539	2.7916	0.05390	0.2437:0.4949:0.1324:0.129	.	102	Q9NRE1	MMP26_HUMAN	Y	102	ENSP00000369753:H102Y;ENSP00000300762:H102Y	.	H	+	1	0	0	MMP26	4967658	4967658	0.001000	0.12720	0.219000	0.23793	0.016000	0.09150	1.163000	0.31798	-0.861000	0.04094	-1.181000	0.01715	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-11.235130	1	0.170000	NM_021801			8	8		159	157	0		1			0	0	35	0		9.893987e-01	0	0	0	0	0	0	8	159
MMP26	56547	broad.mit.edu	37	11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	217					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)	TGGGCCTGCAGCACTCTGGGA	0.413																																						ENST00000380390.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				22						c.(649-651)caG>caT		matrix metallopeptidase 26	Marimastat(DB00786)						69.0	65.0	66.0					11																	5013249		2201	4298	6499	SO:0001583	missense	56547	0	0					g.chr11:5013249G>T	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.651G>T	chr11.hg19:g.5013249G>T	ENSP00000369753:p.Gln217His	0					MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H	p.Q217H			1	2	3	1.993097	Q9NRE1	MMP26_HUMAN		6	867	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	1	1	hg19	c.651G>T	CCDS7752.1	1	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944724	0.02304	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21543	2.0;2.0	3.79	-3.17	0.05202	3.79	-3.17	0.05202	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.533080	0.00669	N	0.000629	T	0.11965	0.0291	N	0.16708	0.43	0.09310	N	0.999991	B	0.21381	0.055	B	0.30646	0.118	T	0.15464	-1.0436	10	0.12766	T	0.61	5.7276	2.8457	0.05542	0.2533:0.4746:0.1499:0.1222	.	217	Q9NRE1	MMP26_HUMAN	H	217	ENSP00000369753:Q217H;ENSP00000300762:Q217H	ENSP00000300762:Q217H	Q	+	3	2	2	MMP26	4969825	4969825	0.000000	0.05858	0.003000	0.11579	0.472000	0.32918	-3.215000	0.00554	-0.410000	0.07542	-0.305000	0.09177	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_021801			39	39		209	205	1		1			0	0	46	0		1	0	0	0	0	0	0	39	209
MMP26	56547	broad.mit.edu	37	11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	242					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)	CAGCTCAGTGCCGATGATATC	0.473																																						ENST00000380390.1	1.000000	0.590000	1	7.300000e-01	0.910000	0.883265	0.910000	1.000000																										0				22						c.(724-726)gCc>gTc		matrix metallopeptidase 26	Marimastat(DB00786)						86.0	76.0	79.0					11																	5013323		2201	4298	6499	SO:0001583	missense	56547	0	0					g.chr11:5013323C>T	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.725C>T	chr11.hg19:g.5013323C>T	ENSP00000369753:p.Ala242Val	0					MMP26_ENST00000300762.1_Missense_Mutation_p.A242V	p.A242V			1	2	3	1.993097	Q9NRE1	MMP26_HUMAN		6	941	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	1	1	hg19	c.725C>T	CCDS7752.1	1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186778	0.09547	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21361	2.01;2.01	3.67	-7.35	0.01422	3.67	-7.35	0.01422	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.244940	0.01367	N	0.012424	T	0.09247	0.0228	N	0.13003	0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.18710	T	0.47	2.2155	2.3356	0.04247	0.4996:0.2435:0.0974:0.1596	.	242	Q9NRE1	MMP26_HUMAN	V	242	ENSP00000369753:A242V;ENSP00000300762:A242V	ENSP00000300762:A242V	A	+	2	0	0	MMP26	4969899	4969899	0.000000	0.05858	0.023000	0.16930	0.100000	0.18952	0.191000	0.17076	-2.462000	0.00535	-0.310000	0.09108	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-8.023614	1	0.170000	NM_021801			23	23		279	275	0		1			0	0	55	0		9.999994e-01	0	0	0	0	0	0	23	279
OR52E2	119678	broad.mit.edu	37	11	5079958	5079958	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383																																						ENST00000321522.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(898-900)atC>atA		olfactory receptor, family 52, subfamily E, member 2							68.0	68.0	68.0					11																	5079958		2201	4298	6499	SO:0001819	synonymous_variant	119678	0	0					g.chr11:5079958G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.900C>A	chr11.hg19:g.5079958G>T		0						p.I300I	NM_001005164.2	NP_001005164.2	1	2	3	1.993097	Q8NGJ4	O52E2_HUMAN		1	899	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Silent	SNP	ENST00000321522.2	1	1	hg19	c.900C>A	CCDS31371.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001005164			67	66		246	241	1		1			0	0	66	0		1	0	0	0	0	0	0	67	246
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(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)		AACAGGTAAAGATTTGACAAG	0.383																																						ENST00000307388.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(844-846)Ctt>Ttt		olfactory receptor, family 52, subfamily A, member 5							149.0	144.0	146.0					11																	5153029		2201	4298	6499	SO:0001583	missense	390054	0	0					g.chr11:5153029G>A	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.844C>T	chr11.hg19:g.5153029G>A	ENSP00000303469:p.Leu282Phe	0						p.L282F	NM_001005160.2	NP_001005160.1	1	2	3	1.993097	Q9H2C5	O52A5_HUMAN		1	843	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Missense_Mutation	SNP	ENST00000307388.1	1	1	hg19	c.844C>T	CCDS31373.1	1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380793	0.24944	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	4.95	4.03	0.46877	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.00241	0.0007	M	0.64080	1.96	0.35217	D	0.775657	B	0.18610	0.029	B	0.27887	0.084	T	0.59553	-0.7433	10	0.51188	T	0.08	.	12.1449	0.54018	0.0:0.0:0.6904:0.3096	.	282	Q9H2C5	O52A5_HUMAN	F	282	ENSP00000303469:L282F	ENSP00000303469:L282F	L	-	1	0	0	OR52A5	5109605	5109605	0.000000	0.05858	0.772000	0.31596	0.745000	0.42441	-1.550000	0.02180	1.288000	0.44600	0.655000	0.94253	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_001005160			68	68		298	291	1		1			0	0	95	0		1	0	0	0	0	0	0	68	298
OR52A1	23538	broad.mit.edu	37	11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	74					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418																																						ENST00000380367.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(220-222)Gca>Aca		olfactory receptor, family 52, subfamily A, member 1							74.0	67.0	69.0					11																	5173380		2201	4298	6499	SO:0001583	missense	23538	0	0					g.chr11:5173380C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.220G>A	chr11.hg19:g.5173380C>T	ENSP00000369725:p.Ala74Thr	0					OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T	p.A74T			1	2	3	1.993097	Q9UKL2	O52A1_HUMAN		2	637	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	1	1	hg19	c.220G>A	CCDS31374.1	1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657534	0.29425	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00402	7.56;7.56	5.37	2.45	0.29901	5.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.806400	0.10768	N	0.636328	T	0.00384	0.0012	L	0.52823	1.66	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.40021	-0.9585	10	0.45353	T	0.12	.	8.5773	0.33605	0.271:0.6566:0.0:0.0724	.	74	Q9UKL2	O52A1_HUMAN	T	74	ENSP00000369725:A74T;ENSP00000333684:A74T	ENSP00000333684:A74T	A	-	1	0	0	OR52A1	5129956	5129956	0.000000	0.05858	0.328000	0.25416	0.711000	0.40976	0.037000	0.13840	0.380000	0.24823	0.655000	0.94253	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_012375			40	40		167	165	1		1			0	0	42	0		1	0	0	0	0	0	0	40	167
OR51V1	283111	broad.mit.edu	37	11	5221325	5221325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTATTGAATCGGATGTCTG	0.413																																						ENST00000321255.1	1.000000	0.270000	6.400000e-01	3.600000e-01	0.480000	0.513063	0.480000	0.470000																										0				39						c.(604-606)cgA>cgG		olfactory receptor, family 51, subfamily V, member 1							58.0	55.0	56.0					11																	5221325		2201	4298	6499	SO:0001819	synonymous_variant	283111	0	0					g.chr11:5221325T>C	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.606A>G	chr11.hg19:g.5221325T>C		0						p.R202R	NM_001004760.2	NP_001004760.2	1	2	3	1.993097	Q9H2C8	O51V1_HUMAN		1	605	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Silent	SNP	ENST00000321255.1	1	1	hg19	c.606A>G	CCDS31375.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-15.207530	1	0.170000	NM_001004760			14	14		338	333	0		1			0	0	68	0		9.997434e-01	0	0	0	0	0	0	14	338
OR51V1	283111	broad.mit.edu	37	11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	115					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502																																						ENST00000321255.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(343-345)gGt>gAt		olfactory receptor, family 51, subfamily V, member 1							59.0	58.0	58.0					11																	5221587		2201	4298	6499	SO:0001583	missense	283111	0	0					g.chr11:5221587C>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.344G>A	chr11.hg19:g.5221587C>T	ENSP00000321729:p.Gly115Asp	0						p.G115D	NM_001004760.2	NP_001004760.2	1	2	3	1.993097	Q9H2C8	O51V1_HUMAN		1	343	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Missense_Mutation	SNP	ENST00000321255.1	1	1	hg19	c.344G>A	CCDS31375.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888099	0.52014	.	.	ENSG00000176742	ENST00000321255	T	0.02709	4.19	5.48	3.63	0.41609	5.48	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.141905	0.32134	N	0.006537	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18777	-1.0326	10	0.35671	T	0.21	.	2.7779	0.05352	0.1462:0.5646:0.1419:0.1473	.	115	Q9H2C8	O51V1_HUMAN	D	115	ENSP00000321729:G115D	ENSP00000321729:G115D	G	-	2	0	0	OR51V1	5178163	5178163	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	0.025000	0.13577	0.881000	0.35993	0.650000	0.86243	GGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_001004760			41	40		201	201	1		1			0	0	51	0		1	0	0	0	0	0	0	41	201
OR51V1	283111	broad.mit.edu	37	11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	40					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483																																						ENST00000321255.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(118-120)ttC>ttA		olfactory receptor, family 51, subfamily V, member 1							121.0	112.0	115.0					11																	5221811		2201	4298	6499	SO:0001583	missense	283111	0	0					g.chr11:5221811G>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.120C>A	chr11.hg19:g.5221811G>T	ENSP00000321729:p.Phe40Leu	0						p.F40L	NM_001004760.2	NP_001004760.2	1	2	3	1.993097	Q9H2C8	O51V1_HUMAN		1	119	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Missense_Mutation	SNP	ENST00000321255.1	1	1	hg19	c.120C>A	CCDS31375.1	1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770548	0.15983	.	.	ENSG00000176742	ENST00000321255	T	0.00566	6.55	5.16	1.21	0.21127	5.16	1.21	0.21127	.	0.169863	0.28187	U	0.016269	T	0.00468	0.0015	L	0.52573	1.65	0.23972	N	0.996304	B	0.16802	0.019	B	0.20384	0.029	T	0.46428	-0.9192	10	0.19147	T	0.46	.	4.9654	0.14087	0.4101:0.1459:0.4439:0.0	.	40	Q9H2C8	O51V1_HUMAN	L	40	ENSP00000321729:F40L	ENSP00000321729:F40L	F	-	3	2	2	OR51V1	5178387	5178387	0.001000	0.12720	0.597000	0.28824	0.389000	0.30415	-0.311000	0.08124	0.068000	0.16574	0.650000	0.86243	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_001004760			82	77		334	322	1		1			0	0	95	0		1	0	0	0	0	0	0	82	334
OR51B4	79339	broad.mit.edu	37	11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	101					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(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)		AGTGAATGAATGAAGGATTGG	0.493																																						ENST00000380224.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(301-303)Att>Gtt		olfactory receptor, family 51, subfamily B, member 4							154.0	140.0	145.0					11																	5322876		2201	4297	6498	SO:0001583	missense	79339	0	0					g.chr11:5322876T>C	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.301A>G	chr11.hg19:g.5322876T>C	ENSP00000369573:p.Ile101Val	0					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.I101V	NM_033179.2	NP_149419.2	1	2	3	1.993097	Q9Y5P0	O51B4_HUMAN		1	350	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	1	1	hg19	c.301A>G	CCDS7757.1	1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415455	0.11870	.	.	ENSG00000183251	ENST00000380224	T	0.37058	1.22	4.28	4.28	0.50868	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.26521	0.0648	L	0.31371	0.925	0.23227	N	0.998081	B	0.30824	0.296	B	0.33454	0.164	T	0.22906	-1.0203	10	0.66056	D	0.02	.	8.086	0.30773	0.1803:0.0:0.0:0.8196	.	101	Q9Y5P0	O51B4_HUMAN	V	101	ENSP00000369573:I101V	ENSP00000369573:I101V	I	-	1	0	0	OR51B4	5279452	5279452	0.744000	0.28250	0.465000	0.27155	0.004000	0.04260	0.779000	0.26746	1.806000	0.52798	0.533000	0.62120	ATT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_033179			57	57		329	324	1		1			0	0	86	0		1	0	0	0	0	0	0	57	329
OR51B5	282763	broad.mit.edu	37	11	5364599	5364599	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCATGAAGATTGTGATCTT	0.502																																						ENST00000300773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(154-156)aaT>aaC		olfactory receptor, family 51, subfamily B, member 5							66.0	71.0	69.0					11																	5364599		2201	4297	6498	SO:0001819	synonymous_variant	282763	0	0					g.chr11:5364599A>G	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.156T>C	chr11.hg19:g.5364599A>G		0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.N52N	NM_001005567.2	NP_001005567.2	1	2	3	1.993097	Q9H339	O51B5_HUMAN		1	210	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B2RN59	Silent	SNP	ENST00000300773.2	1	1	hg19	c.156T>C	CCDS31378.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_001005567			62	60		244	239	0		1			0	0	61	0		1	0	0	0	0	0	0	62	244
OR51M1	390059	broad.mit.edu	37	11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(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)		CTGATGGTGGTAGTTTTCACT	0.537																																						ENST00000328611.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(643-645)gTa>gCa		olfactory receptor, family 51, subfamily M, member 1							144.0	138.0	140.0					11																	5411272		2046	4197	6243	SO:0001583	missense	390059	0	0					g.chr11:5411272T>C	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.644T>C	chr11.hg19:g.5411272T>C	ENSP00000333196:p.Val215Ala	0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.V215A	NM_001004756.2	NP_001004756.2	1	2	3	1.993097	Q9H341	O51M1_HUMAN		1	666	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	1	1	hg19	c.644T>C	CCDS53596.1	1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116938	0.37339	.	.	ENSG00000184698	ENST00000328611	T	0.35973	1.28	5.03	5.03	0.67393	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.756085	0.10422	U	0.676577	T	0.42585	0.1209	N	0.13327	0.33	0.27101	N	0.962615	P	0.51653	0.947	P	0.62885	0.908	T	0.41378	-0.9512	10	0.45353	T	0.12	.	13.7333	0.62802	0.0:0.0:0.0:1.0	.	204	Q9H341	O51M1_HUMAN	A	215	ENSP00000333196:V215A	ENSP00000333196:V215A	V	+	2	0	0	OR51M1	5367848	5367848	0.000000	0.05858	0.414000	0.26521	0.007000	0.05969	-0.009000	0.12765	2.116000	0.64780	0.533000	0.62120	GTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_001004756			76	76		320	316	1		1			0	0	72	0		1	0	0	0	0	0	0	76	320
OR51M1	390059	broad.mit.edu	37	11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	287					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TATTCATCTTCTTATGGCCAA	0.498																																						ENST00000328611.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(859-861)Ctt>Ttt		olfactory receptor, family 51, subfamily M, member 1							60.0	53.0	55.0					11																	5411487		2010	4191	6201	SO:0001583	missense	390059	1	120924	27				g.chr11:5411487C>T	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.859C>T	chr11.hg19:g.5411487C>T	ENSP00000333196:p.Leu287Phe	0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.L287F	NM_001004756.2	NP_001004756.2	1	2	3	1.993097	Q9H341	O51M1_HUMAN		1	881	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	1	1	hg19	c.859C>T	CCDS53596.1	1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837469	0.16891	.	.	ENSG00000184698	ENST00000328611	T	0.00152	8.66	5.24	2.35	0.29111	5.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.646517	0.11717	U	0.536311	T	0.00144	0.0004	L	0.42581	1.335	0.21386	N	0.9997	B	0.18310	0.027	B	0.30316	0.114	T	0.16837	-1.0389	10	0.44086	T	0.13	.	6.9332	0.24453	0.0:0.5769:0.2697:0.1535	.	276	Q9H341	O51M1_HUMAN	F	287	ENSP00000333196:L287F	ENSP00000333196:L287F	L	+	1	0	0	OR51M1	5368063	5368063	0.000000	0.05858	0.454000	0.27019	0.617000	0.37484	-1.505000	0.02273	0.364000	0.24374	0.655000	0.94253	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_001004756			33	32		145	144	1		1			0	0	36	0		1	0	0	0	0	0	0	33	145
OR51Q1	390061	broad.mit.edu	37	11	5443517	5443517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522																																						ENST00000300778.4	1.000000	0.280000	5.000000e-01	3.400000e-01	0.410000	0.439376	0.410000	0.410000																										0				37						c.(85-87)atC>atT		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							306.0	236.0	260.0					11																	5443517		2201	4297	6498	SO:0001819	synonymous_variant	390061	0	0					g.chr11:5443517C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.87C>T	chr11.hg19:g.5443517C>T		0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.I29I	NM_001004757.2	NP_001004757.1	1	2	3	1.993097	Q8NH59	O51Q1_HUMAN		1	177	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B2RNN1	Silent	SNP	ENST00000300778.4	1	1	hg19	c.87C>T	CCDS31381.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	0	0	1		2	2	2	0		0	0	181		181	181	1	2.060000	-3.792306	1	0.170000	NM_001004757			30	29		841	814	0		1			0	0	181	0		1	0	0	0	0	0	0	30	841
OR51Q1	390061	broad.mit.edu	37	11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473																																						ENST00000300778.4	1.000000	0.370000	7.500000e-01	4.700000e-01	0.590000	0.618225	0.590000	0.580000																										0				37						c.(820-822)gTc>gCc		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							117.0	100.0	106.0					11																	5444251		2201	4297	6498	SO:0001583	missense	390061	0	0					g.chr11:5444251T>C	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.821T>C	chr11.hg19:g.5444251T>C	ENSP00000300778:p.Val274Ala	0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.V274A	NM_001004757.2	NP_001004757.1	1	2	3	1.993097	Q8NH59	O51Q1_HUMAN		1	911	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	1	1	hg19	c.821T>C	CCDS31381.1	0	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843174	0.51057	.	.	ENSG00000167360	ENST00000300778	T	0.00099	8.73	4.89	4.89	0.63831	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.123758	0.36444	N	0.002588	T	0.00384	0.0012	L	0.60012	1.86	0.24171	N	0.995622	D	0.89917	1.0	D	0.85130	0.997	T	0.58329	-0.7655	10	0.54805	T	0.06	.	13.606	0.62048	0.0:0.0:0.0:1.0	.	274	Q8NH59	O51Q1_HUMAN	A	274	ENSP00000300778:V274A	ENSP00000300778:V274A	V	+	2	0	0	OR51Q1	5400827	5400827	0.002000	0.14202	1.000000	0.80357	0.866000	0.49608	1.311000	0.33562	2.089000	0.63090	0.311000	0.20440	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-5.301158	1	0.170000	NM_001004757			21	21		403	394	0		1			0	0	104	0		9.999971e-01	0	0	0	0	0	0	21	403
OR51I2	390064	broad.mit.edu	37	11	5475516	5475516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	266					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)			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)		GCTTTGGGAAGCATGTCCCAT	0.468																																						ENST00000341449.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(796-798)aaG>aaA		olfactory receptor, family 51, subfamily I, member 2							220.0	187.0	198.0					11																	5475516		2201	4297	6498	SO:0001819	synonymous_variant	390064	1	121412	33				g.chr11:5475516G>A	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.798G>A	chr11.hg19:g.5475516G>A		0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.K266K	NM_001004754.2	NP_001004754.1	1	2	3	1.993097	Q9H344	O51I2_HUMAN		1	879	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Q6IF81	Silent	SNP	ENST00000341449.2	1	1	hg19	c.798G>A	CCDS31383.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_001004754			157	152		628	617	0		1			0	0	142	0		1	0	0	0	0	0	0	157	628
OR52D1	390066	broad.mit.edu	37	11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	315					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)			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)		TCACCTGGGGAAGACTTCAAT	0.413																																						ENST00000322641.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(943-945)Aag>Gag		olfactory receptor, family 52, subfamily D, member 1							59.0	58.0	58.0					11																	5510879		2201	4297	6498	SO:0001583	missense	390066	4	121410	36				g.chr11:5510879A>G	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.943A>G	chr11.hg19:g.5510879A>G	ENSP00000326232:p.Lys315Glu	0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.K315E	NM_001005163.2	NP_001005163.1	1	2	3	1.993097	Q9H346	O52D1_HUMAN		1	965	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	1	1	hg19	c.943A>G	CCDS31384.1	1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887179	0.33348	.	.	ENSG00000181609	ENST00000322641	T	0.40225	1.04	4.91	2.5	0.30297	4.91	2.5	0.30297	.	0.193296	0.36234	N	0.002711	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.27380	0.079	T	0.18871	-1.0323	10	0.62326	D	0.03	.	4.5443	0.12073	0.7392:0.0:0.0921:0.1687	.	315	Q9H346	O52D1_HUMAN	E	315	ENSP00000326232:K315E	ENSP00000326232:K315E	K	+	1	0	0	OR52D1	5467455	5467455	0.009000	0.17119	0.001000	0.08648	0.073000	0.16967	1.179000	0.31993	0.414000	0.25790	0.533000	0.62120	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_001005163			86	86		274	266	1		1			0	0	59	0		1	0	0	0	0	0	0	86	274
UBQLN3	50613	broad.mit.edu	37	11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	236										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)		CCGGTCCTGGCTACGTATCAT	0.478																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(706-708)aGc>aAc		ubiquilin 3							91.0	86.0	88.0					11																	5530082		2201	4297	6498	SO:0001583	missense	50613	0	0					g.chr11:5530082C>T	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.707G>A	chr11.hg19:g.5530082C>T	ENSP00000347997:p.Ser236Asn	0					HBG2_ENST00000380259.2_Intron	p.S236N	NM_017481.2	NP_059509.1	1	2	3	1.993097	Q9H347	UBQL3_HUMAN		2	854	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	1	1	hg19	c.707G>A	CCDS7758.1	1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943531	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.30714	1.52	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000042	T	0.19248	0.0462	L	0.31526	0.94	0.38581	D	0.950182	B	0.24721	0.11	B	0.24848	0.056	T	0.05886	-1.0858	10	0.05833	T	0.94	-16.6012	10.726	0.46068	0.0:0.913:0.0:0.087	.	236	Q9H347	UBQL3_HUMAN	N	236	ENSP00000347997:S236N	ENSP00000347997:S236N	S	-	2	0	0	UBQLN3	5486658	5486658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.750000	0.94351	0.591000	0.81541	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	0		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_017481			97	95		412	404	1		1			0	0	102	0		1	0	0	0	0	0	0	97	412
UBQLN3	50613	broad.mit.edu	37	11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	177										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)		CAGACCCGGGATGAAGGGGTC	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(529-531)aTc>aAc		ubiquilin 3							71.0	70.0	70.0					11																	5530259		2201	4297	6498	SO:0001583	missense	50613	0	0					g.chr11:5530259A>T	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.530T>A	chr11.hg19:g.5530259A>T	ENSP00000347997:p.Ile177Asn	0					HBG2_ENST00000380259.2_Intron	p.I177N	NM_017481.2	NP_059509.1	1	2	3	1.993097	Q9H347	UBQL3_HUMAN		2	677	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	1	1	hg19	c.530T>A	CCDS7758.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115612	0.77323	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54279	1.13;0.58	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.48286	D	0.000187	T	0.70789	0.3264	M	0.87682	2.9	0.47862	D	0.999531	D	0.54397	0.966	P	0.55667	0.781	T	0.77236	-0.2662	10	0.87932	D	0	-9.9209	13.9369	0.64029	1.0:0.0:0.0:0.0	.	177	Q9H347	UBQL3_HUMAN	N	177	ENSP00000347997:I177N;ENSP00000412561:I177N	ENSP00000347997:I177N	I	-	2	0	0	UBQLN3	5486835	5486835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.344000	0.59354	2.238000	0.73509	0.477000	0.44152	ATC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	1		2	2	2	0		0	0	68		68	65	1	2.060000	-20.000000	1	0.170000	NM_017481			64	63		357	350	1		1			0	0	68	0		1	0	0	0	0	0	0	64	357
UBQLN3	50613	broad.mit.edu	37	11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										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)		TGATCCAGGACTTGGGCCCTG	0.617																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				39						c.(337-339)aGt>aTt		ubiquilin 3							70.0	65.0	67.0					11																	5530451		2201	4297	6498	SO:0001583	missense	50613	0	0					g.chr11:5530451C>A	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.338G>T	chr11.hg19:g.5530451C>A	ENSP00000347997:p.Ser113Ile	0					HBG2_ENST00000380259.2_Intron	p.S113I	NM_017481.2	NP_059509.1	1	2	3	1.993097	Q9H347	UBQL3_HUMAN		2	485	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	1	1	hg19	c.338G>T	CCDS7758.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630625	0.46944	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54675	1.09;0.56	5.45	3.45	0.39498	5.45	3.45	0.39498	.	0.408439	0.20954	N	0.082692	T	0.50956	0.1646	M	0.73962	2.25	0.09310	N	1	B	0.21753	0.06	B	0.26864	0.074	T	0.52041	-0.8628	10	0.62326	D	0.03	.	7.4533	0.27250	0.0:0.7333:0.1697:0.097	.	113	Q9H347	UBQL3_HUMAN	I	113	ENSP00000347997:S113I;ENSP00000412561:S113I	ENSP00000347997:S113I	S	-	2	0	0	UBQLN3	5487027	5487027	0.074000	0.21230	0.798000	0.32154	0.956000	0.61745	0.516000	0.22817	1.393000	0.46605	0.585000	0.79938	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_017481			34	34		190	186	1		1			0	0	46	0		1	0	0	0	0	0	0	34	190
UBQLNL	143630	broad.mit.edu	37	11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498																																						ENST00000380184.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(856-858)caA>caC		ubiquilin-like							114.0	105.0	108.0					11																	5536814		2201	4297	6498	SO:0001583	missense	143630	0	0					g.chr11:5536814T>G	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.858A>C	chr11.hg19:g.5536814T>G	ENSP00000369531:p.Gln286His	0					HBG2_ENST00000380259.2_Intron	p.Q286H	NM_145053.4	NP_659490.4	1	2	3	1.993097	Q8IYU4	UBQLN_HUMAN		1	1121	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	1	1	hg19	c.858A>C	CCDS31385.1	1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868898	0.17322	.	.	ENSG00000175518	ENST00000380184	T	0.54279	0.58	5.09	-3.75	0.04372	5.09	-3.75	0.04372	.	0.899723	0.09404	N	0.806765	T	0.37183	0.0994	L	0.49778	1.585	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39482	-0.9612	10	0.56958	D	0.05	.	0.7817	0.01041	0.4531:0.1873:0.1344:0.2252	.	286	Q8IYU4	UBQLN_HUMAN	H	286	ENSP00000369531:Q286H	ENSP00000369531:Q286H	Q	-	3	2	2	UBQLNL	5493390	5493390	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	-1.914000	0.01579	-0.550000	0.06183	0.533000	0.62120	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	1	0	1		19	2	2	0		0	1	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_145053			67	65		256	251	1		1			0	0	54	0		1	0	0	0	0	0	0	67	256
UBQLNL	143630	broad.mit.edu	37	11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468																																						ENST00000380184.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(628-630)Gaa>Aaa		ubiquilin-like							128.0	131.0	130.0					11																	5537044		2201	4297	6498	SO:0001583	missense	143630	1	121412	33				g.chr11:5537044C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.628G>A	chr11.hg19:g.5537044C>T	ENSP00000369531:p.Glu210Lys	0					HBG2_ENST00000380259.2_Intron	p.E210K	NM_145053.4	NP_659490.4	1	2	3	1.993097	Q8IYU4	UBQLN_HUMAN		1	891	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	1	1	hg19	c.628G>A	CCDS31385.1	1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087164	0.36855	.	.	ENSG00000175518	ENST00000380184	T	0.59083	0.29	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000085	T	0.78142	0.4237	M	0.87682	2.9	0.48571	D	0.999671	D	0.89917	1.0	D	0.80764	0.994	T	0.81837	-0.0749	10	0.87932	D	0	.	13.8389	0.63426	0.0:1.0:0.0:0.0	.	210	Q8IYU4	UBQLN_HUMAN	K	210	ENSP00000369531:E210K	ENSP00000369531:E210K	E	-	1	0	0	UBQLNL	5493620	5493620	0.995000	0.38212	1.000000	0.80357	0.042000	0.13812	4.775000	0.62346	2.615000	0.88500	0.650000	0.86243	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	1	0	0		2	2	2	0		0	0	140		140	138	1	2.060000	-20.000000	1	0.170000	NM_145053			146	145		641	633	1		1	0		0	0	140	0		1	1.605609e-01	0	0	0	4	0	146	641
OR52H1	390067	broad.mit.edu	37	11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T	rs202105878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, 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)			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)		TCAGCACAGGCGAGCTGGGCA	0.483																																						ENST00000322653.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(586-588)Gcc>Acc		olfactory receptor, family 52, subfamily H, member 1							131.0	102.0	112.0					11																	5566168		2201	4297	6498	SO:0001583	missense	390067	9	121412	43				g.chr11:5566168C>T	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.586G>A	chr11.hg19:g.5566168C>T	ENSP00000326259:p.Ala196Thr	0					HBG2_ENST00000380259.2_Intron	p.A196T	NM_001005289.1	NP_001005289.1	1	2	3	1.993097	Q8NGJ2	O52H1_HUMAN		1	611	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	1	1	hg19	c.586G>A	CCDS31386.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479877	0.44044	.	.	ENSG00000181616	ENST00000322653	T	0.00193	8.58	5.37	4.37	0.52481	5.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.327597	0.25978	N	0.027090	T	0.00580	0.0019	M	0.87180	2.865	0.09310	N	1	D	0.61697	0.99	P	0.60117	0.869	T	0.41016	-0.9532	10	0.87932	D	0	.	15.5505	0.76148	0.1474:0.8526:0.0:0.0	.	196	Q8NGJ2	O52H1_HUMAN	T	196	ENSP00000326259:A196T	ENSP00000326259:A196T	A	-	1	0	0	OR52H1	5522744	5522744	0.000000	0.05858	0.953000	0.39169	0.510000	0.34073	-0.025000	0.12413	2.511000	0.84671	0.650000	0.86243	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_001005289			51	51		249	243	1		1			0	0	80	0		1	0	0	0	0	0	0	51	249
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507																																						ENST00000345043.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(118-120)Ctg>Ttg		olfactory receptor, family 52, subfamily B, member 6							100.0	101.0	101.0					11																	5602224		2155	4271	6426	SO:0001819	synonymous_variant	340980	0	0					g.chr11:5602224C>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.118C>T	chr11.hg19:g.5602224C>T		0					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.L40L	NM_001005162.2	NP_001005162.2	1	2	3	1.993097	Q8NGF0	O52B6_HUMAN		1	118	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Q6IFI7	Silent	SNP	ENST00000345043.2	1	1	hg19	c.118C>T	CCDS41611.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	1	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_001005162			56	55		259	254	1		1			0	0	59	0		1	0	0	0	0	0	0	56	259
OR52B6	340980	broad.mit.edu	37	11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507																																						ENST00000345043.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(217-219)Gca>Aca		olfactory receptor, family 52, subfamily B, member 6							164.0	160.0	161.0					11																	5602323		2141	4259	6400	SO:0001583	missense	340980	0	0					g.chr11:5602323G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.217G>A	chr11.hg19:g.5602323G>A	ENSP00000341581:p.Ala73Thr	0					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A73T	NM_001005162.2	NP_001005162.2	1	2	3	1.993097	Q8NGF0	O52B6_HUMAN		1	217	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	1	1	hg19	c.217G>A	CCDS41611.1	1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903901	0.17760	.	.	ENSG00000187747	ENST00000345043	T	0.00402	7.56	5.15	-0.535	0.11879	5.15	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	0.822472	0.09784	U	0.756273	T	0.00178	0.0005	N	0.12443	0.215	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36138	-0.9760	10	0.38643	T	0.18	.	0.6632	0.00846	0.2204:0.3738:0.1321:0.2737	.	73	Q8NGF0	O52B6_HUMAN	T	73	ENSP00000341581:A73T	ENSP00000341581:A73T	A	+	1	0	0	OR52B6	5558899	5558899	0.000000	0.05858	0.015000	0.15790	0.447000	0.32167	-1.811000	0.01728	0.056000	0.16144	-0.171000	0.13296	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	1	0	0		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_001005162			105	101		444	432	1		1			0	0	98	0		1	0	0	0	0	0	0	105	444
TRIM6	117854	broad.mit.edu	37	11	5626734	5626734	+	Silent	SNP	G	G	A	rs564295328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000278302.5	+	4	827	c.687G>A	c.(685-687)tcG>tcA	p.S229S	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000507320.1_Silent_p.S54S|TRIM6_ENST00000380107.1_Silent_p.S203S|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Silent_p.S54S|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000506134.1_Silent_p.S54S	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	229					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			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)		AGACCCAGTCGCTGCGAGAGC	0.537											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.0					ENST00000278302.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(685-687)tcG>tcA		tripartite motif containing 6							74.0	70.0	71.0					11																	5626734		2201	4297	6498	SO:0001819	synonymous_variant	117854	1	121410	30				g.chr11:5626734G>A	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.687G>A	chr11.hg19:g.5626734G>A		0		OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000507320.1_Silent_p.S54S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000380107.1_Silent_p.S203S|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Silent_p.S54S|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000506134.1_Silent_p.S54S	p.S229S	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	1	2	3	1.993097	Q9C030	TRIM6_HUMAN		4	827	+		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)	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	1	1	hg19	c.687G>A	CCDS31390.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001003818			50	50		211	206	1		1	1		0	0	41	0		1	7.012310e-01	0	2	0	10	0	50	211
TRIM5	85363	broad.mit.edu	37	11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000380034.3	-	6	1030	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	258					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408																																						ENST00000380034.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(772-774)gaG>gaT		tripartite motif containing 5							83.0	83.0	83.0					11																	5687305		2201	4297	6498	SO:0001583	missense	85363	0	0					g.chr11:5687305C>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.774G>T	chr11.hg19:g.5687305C>A	ENSP00000369373:p.Glu258Asp	0					TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000483835.1_5'UTR	p.E258D	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	1	2	3	1.993097	Q9C035	TRIM5_HUMAN		6	1030	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	1	1	hg19	c.774G>T	CCDS31393.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901831	0.33535	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.84	-0.387	0.12463	3.84	-0.387	0.12463	.	1.506160	0.04073	N	0.308285	T	0.07052	0.0179	M	0.76838	2.35	0.09310	N	1	B;B;B	0.20261	0.043;0.004;0.001	B;B;B	0.23150	0.044;0.027;0.009	T	0.44003	-0.9356	10	0.62326	D	0.03	.	3.3104	0.07015	0.3351:0.4558:0.0:0.2091	.	258;258;258	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	D	258;258;258;258;258;259	ENSP00000380064:E258D;ENSP00000307031:E258D;ENSP00000369373:E258D;ENSP00000369366:E258D;ENSP00000380058:E258D;ENSP00000380062:E259D	ENSP00000307031:E258D	E	-	3	2	2	TRIM5	5643881	5643881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.486000	0.06513	-0.049000	0.13379	-0.140000	0.14226	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_033034			62	59		253	235	1		1	1		0	0	46	0		1	9.999501e-01	0	8	0	55	0	62	253
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527																																						ENST00000380034.3	1.000000	0.760000	1	9.100000e-01	0.990000	0.968010	0.990000	1.000000																										0				21						c.(643-645)acG>acA		tripartite motif containing 5							129.0	111.0	117.0					11																	5699533		2201	4297	6498	SO:0001819	synonymous_variant	85363	3	121412	38				g.chr11:5699533C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.645G>A	chr11.hg19:g.5699533C>T		0					TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR	p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	1	2	3	1.993097	Q9C035	TRIM5_HUMAN		4	901	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	1	1	hg19	c.645G>A	CCDS31393.1	1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	0	TRIM5	5656109	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-10.599030	1	0.170000	NM_033034			32	32		318	308	0		1	1		0	0	63	0		1	9.978935e-01	0	9	0	87	0	32	318
TRIM22	10346	broad.mit.edu	37	11	5730696	5730696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	ENST00000379965.3	+	8	1592	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			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)		TATGGCTGTGCCTCCCTGTCG	0.438																																					GBM(104;491 2336 5222)	ENST00000379965.3	1.000000	0.270000	5.300000e-01	3.400000e-01	0.420000	0.455965	0.420000	0.420000																										0				23						c.(1315-1317)Cct>Tct		tripartite motif containing 22							101.0	108.0	106.0					11																	5730696		2201	4297	6498	SO:0001583	missense	10346	0	0					g.chr11:5730696C>T	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.1315C>T	chr11.hg19:g.5730696C>T	ENSP00000369299:p.Pro439Ser	0					TRIM5_ENST00000380027.1_Intron	p.P439S	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	1	2	3	1.993097	Q8IYM9	TRI22_HUMAN		8	1592	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	1	1	hg19	c.1315C>T	CCDS41612.1	0	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957176	0.53293	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68331	-0.32	3.88	2.96	0.34315	3.88	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78604	0.4309	M	0.75264	2.295	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65294	-0.6203	9	0.34782	T	0.22	.	9.8691	0.41164	0.0:0.8923:0.0:0.1077	.	361;435;439	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	439;250;361	ENSP00000369299:P439S	ENSP00000369299:P439S	P	+	1	0	0	TRIM22	5687272	5687272	0.000000	0.05858	0.008000	0.14137	0.539000	0.34962	0.139000	0.16036	0.939000	0.37446	0.467000	0.42956	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	0	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-3.496783	1	0.170000	NM_006074			24	24		649	637	0		1	1		0	0	122	0		9.999996e-01	9.992848e-01	0	7	0	297	0	24	649
OR52N4	390072	broad.mit.edu	37	11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGCTTATGCTTATGGCCCT	0.488																																						ENST00000317254.3	1.000000	0.350000	6.800000e-01	4.400000e-01	0.540000	0.568280	0.540000	0.530000																										0				26						c.(355-357)Ctt>Att		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							168.0	164.0	165.0					11																	5776325		2201	4297	6498	SO:0001583	missense	390072	0	0					g.chr11:5776325C>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.355C>A	chr11.hg19:g.5776325C>A	ENSP00000323224:p.Leu119Ile	0					TRIM5_ENST00000380027.1_Intron	p.L119I	NM_001005175.2	NP_001005175.3	1	2	3	1.993097	Q8NGI2	O52N4_HUMAN		1	403	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	1	1	hg19	c.355C>A	CCDS44528.1	0	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133435	0.37630	.	.	ENSG00000181074	ENST00000317254	T	0.02837	4.14	5.97	5.06	0.68205	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000543	T	0.07818	0.0196	L	0.35542	1.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12400	-1.0549	10	0.66056	D	0.02	.	9.7107	0.40243	0.0:0.7793:0.1439:0.0768	.	119	Q8NGI2	O52N4_HUMAN	I	119	ENSP00000323224:L119I	ENSP00000323224:L119I	L	+	1	0	0	OR52N4	5732901	5732901	0.019000	0.18553	0.998000	0.56505	0.737000	0.42083	0.191000	0.17076	2.834000	0.97654	0.557000	0.71058	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-4.681840	1	0.170000	NM_001005175			24	24		505	492	0		1	0		0	0	113	0		9.999996e-01	2.292316e-03	0	0	0	2	0	24	505
OR52N5	390075	broad.mit.edu	37	11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAACCCATGAACAAAGAACAT	0.493																																						ENST00000317093.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(337-339)gTt>gCt		olfactory receptor, family 52, subfamily N, member 5							94.0	86.0	89.0					11																	5799527		2122	4087	6209	SO:0001583	missense	390075	0	0					g.chr11:5799527A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.338T>C	chr11.hg19:g.5799527A>G	ENSP00000322866:p.Val113Ala	0					TRIM5_ENST00000380027.1_Intron	p.V113A	NM_001001922.2	NP_001001922.2	1	2	3	1.993097	Q8NH56	O52N5_HUMAN		1	370	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	1	1	hg19	c.338T>C	CCDS31397.1	1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270074	0.40194	.	.	ENSG00000181009	ENST00000317093	T	0.03181	4.02	3.7	2.57	0.30868	3.7	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28431	U	0.015374	T	0.09158	0.0226	M	0.63208	1.945	0.23677	N	0.997139	D	0.54964	0.969	P	0.54856	0.762	T	0.06232	-1.0838	10	0.87932	D	0	.	7.7915	0.29123	0.8961:0.0:0.1038:0.0	.	113	Q8NH56	O52N5_HUMAN	A	113	ENSP00000322866:V113A	ENSP00000322866:V113A	V	-	2	0	0	OR52N5	5756103	5756103	0.008000	0.16893	0.989000	0.46669	0.910000	0.53928	2.530000	0.45641	0.607000	0.29982	0.405000	0.27470	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_001001922			78	73		313	311	1		1			0	0	85	0		1	0	0	0	0	0	0	78	313
OR52N5	390075	broad.mit.edu	37	11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCATAATAAATGAGGTACACA	0.453																																						ENST00000317093.2	1.000000	0.400000	7.100000e-01	4.900000e-01	0.580000	0.608163	0.580000	0.580000																										0				33						c.(169-171)Att>Gtt		olfactory receptor, family 52, subfamily N, member 5							139.0	128.0	132.0					11																	5799696		2124	4089	6213	SO:0001583	missense	390075	0	0					g.chr11:5799696T>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.169A>G	chr11.hg19:g.5799696T>C	ENSP00000322866:p.Ile57Val	0					TRIM5_ENST00000380027.1_Intron	p.I57V	NM_001001922.2	NP_001001922.2	1	2	3	1.993097	Q8NH56	O52N5_HUMAN		1	201	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	1	1	hg19	c.169A>G	CCDS31397.1	0	.	.	.	.	.	.	.	.	.	.	T	9.317	1.057008	0.19907	.	.	ENSG00000181009	ENST00000317093	T	0.06687	3.27	3.44	3.44	0.39384	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008127	T	0.09291	0.0229	L	0.53617	1.68	0.23751	N	0.996947	B	0.25719	0.132	B	0.21360	0.034	T	0.15896	-1.0421	10	0.41790	T	0.15	.	11.1721	0.48577	0.0:0.0:0.0:1.0	.	57	Q8NH56	O52N5_HUMAN	V	57	ENSP00000322866:I57V	ENSP00000322866:I57V	I	-	1	0	0	OR52N5	5756272	5756272	0.023000	0.18921	0.225000	0.23894	0.055000	0.15305	0.214000	0.17541	1.570000	0.49709	0.147000	0.16070	ATT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_001001922			32	30		619	610	0		1			0	0	136	0		1	0	0	0	0	0	0	32	619
OR52N5	390075	broad.mit.edu	37	11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACCAGCATAATGAATTAAAT	0.348																																						ENST00000317093.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(19-21)Tta>Gta		olfactory receptor, family 52, subfamily N, member 5							56.0	56.0	56.0					11																	5799846		2111	4058	6169	SO:0001583	missense	390075	0	0					g.chr11:5799846A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.19T>G	chr11.hg19:g.5799846A>C	ENSP00000322866:p.Leu7Val	0					TRIM5_ENST00000380027.1_Intron	p.L7V	NM_001001922.2	NP_001001922.2	1	2	3	1.993097	Q8NH56	O52N5_HUMAN		1	51	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	1	1	hg19	c.19T>G	CCDS31397.1	1	.	.	.	.	.	.	.	.	.	.	A	5.988	0.366239	0.11352	.	.	ENSG00000181009	ENST00000317093	T	0.00004	9.8	3.59	-1.95	0.07548	3.59	-1.95	0.07548	.	0.000000	0.36854	U	0.002370	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.14783	-1.0460	10	0.72032	D	0.01	.	4.7112	0.12873	0.5218:0.1625:0.3156:0.0	.	7	Q8NH56	O52N5_HUMAN	V	7	ENSP00000322866:L7V	ENSP00000322866:L7V	L	-	1	2	2	OR52N5	5756422	5756422	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.010000	0.12743	-0.138000	0.11434	-0.539000	0.04255	TTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_001001922			98	98		369	359	1		1			0	0	105	0		1	0	0	0	0	0	0	98	369
OR52N2	390077	broad.mit.edu	37	11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438																																						ENST00000317037.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R265H(1)	pancreas(1)	32						c.(793-795)cGt>cAt		olfactory receptor, family 52, subfamily N, member 2		G	HIS/ARG	0,4402		0,0,2201	200.0	161.0	174.0		794	4.2	0.5	11	dbSNP_134	174	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR52N2	NM_001005174.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	265/322	5842359	1,12993	2201	4296	6497	SO:0001583	missense	390077	5	121412	42				g.chr11:5842359G>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.794G>A	chr11.hg19:g.5842359G>A	ENSP00000322801:p.Arg265His	0					TRIM5_ENST00000380027.1_Intron	p.R265H	NM_001005174.1	NP_001005174.1	1	2	3	1.993097	Q8NGI0	O52N2_HUMAN		1	816	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	1	1	hg19	c.794G>A	CCDS31399.1	1	.	.	.	.	.	.	.	.	.	.	G	7.467	0.645803	0.14451	0.0	1.16E-4	ENSG00000180988	ENST00000317037	T	0.00130	8.69	6.09	4.22	0.49857	6.09	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.116572	0.39544	N	0.001333	T	0.00271	0.0008	M	0.85859	2.78	0.20196	N	0.999924	B	0.15719	0.014	B	0.23275	0.045	T	0.38499	-0.9658	10	0.66056	D	0.02	.	15.0853	0.72148	0.1298:0.0:0.8702:0.0	.	265	Q8NGI0	O52N2_HUMAN	H	265	ENSP00000322801:R265H	ENSP00000322801:R265H	R	+	2	0	0	OR52N2	5798935	5798935	0.026000	0.19158	0.498000	0.27564	0.003000	0.03518	1.478000	0.35442	0.473000	0.27368	-0.829000	0.03081	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_001005174			103	100		468	458	1		1			0	0	101	0		1	0	0	0	0	0	0	103	468
OR52E8	390079	broad.mit.edu	37	11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GTTGAGAGCTTTGAGTCGAGC	0.413																																						ENST00000537935.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(721-723)aAa>aGa		olfactory receptor, family 52, subfamily E, member 8							84.0	94.0	91.0					11																	5878211		2141	4296	6437	SO:0001583	missense	390079	0	0					g.chr11:5878211T>C	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.722A>G	chr11.hg19:g.5878211T>C	ENSP00000444054:p.Lys241Arg	0					TRIM5_ENST00000380027.1_Intron	p.K241R	NM_001005168.1	NP_001005168.1	1	2	3	1.993097	Q6IFG1	O52E8_HUMAN		1	753	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	1	1	hg19	c.722A>G	CCDS31400.1	1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116343	0.56505	.	.	ENSG00000183269	ENST00000537935	T	0.00360	7.86	4.42	4.42	0.53409	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.121577	0.39407	N	0.001364	T	0.00552	0.0018	M	0.77313	2.365	0.34493	D	0.705219	P	0.44877	0.845	P	0.50825	0.651	T	0.65179	-0.6231	10	0.62326	D	0.03	.	12.8816	0.58020	0.0:0.0:0.0:1.0	.	241	Q6IFG1	O52E8_HUMAN	R	241	ENSP00000444054:K241R	ENSP00000444054:K241R	K	-	2	0	0	OR52E8	5834787	5834787	1.000000	0.71417	0.973000	0.42090	0.802000	0.45316	7.539000	0.82063	1.985000	0.57927	0.448000	0.29417	AAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_001005168			59	56		289	275	1		1			0	0	72	0		1	0	0	0	0	0	0	59	289
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(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)		GGAGAAAATTCCAGGGACATA	0.512																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(817-819)gGa>gAa		olfactory receptor, family 52, subfamily L, member 1							121.0	122.0	122.0					11																	6007343		2064	4240	6304	SO:0001583	missense	338751	0	0					g.chr11:6007343C>T	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.818G>A	chr11.hg19:g.6007343C>T	ENSP00000330338:p.Gly273Glu	0						p.G273E	NM_001005173.2	NP_001005173.2	1	2	3	1.993097	Q8NGH7	O52L1_HUMAN		1	872	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	1	1	hg19	c.818G>A	CCDS44529.1	1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832108	0.32421	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.1	0.35709	4.1	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.55784	0.1942	M	0.71920	2.185	0.27952	N	0.937101	D	0.89917	1.0	D	0.97110	1.0	T	0.48736	-0.9009	10	0.87932	D	0	.	11.3353	0.49500	0.0:0.6675:0.3325:0.0	.	273	Q8NGH7	O52L1_HUMAN	E	273	ENSP00000330338:G273E	ENSP00000330338:G273E	G	-	2	0	0	OR52L1	5963919	5963919	0.000000	0.05858	1.000000	0.80357	0.310000	0.27922	-1.994000	0.01474	1.987000	0.57996	0.313000	0.20887	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.331083	1	0.170000	NM_001005173			46	46		250	242	1		1			0	0	63	0		1	0	0	0	0	0	0	46	250
FAM160A2	84067	broad.mit.edu	37	11	6238932	6238932	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000449352.2	-	9	2147	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.G642G|FAM160A2_ENST00000524416.1_Silent_p.G628G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	628					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667																																						ENST00000449352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1882-1884)ggT>ggC		family with sequence similarity 160, member A2							20.0	22.0	21.0					11																	6238932		2197	4287	6484	SO:0001819	synonymous_variant	84067	0	0					g.chr11:6238932A>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1884T>C	chr11.hg19:g.6238932A>G		0					FAM160A2_ENST00000265978.4_Silent_p.G642G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000524416.1_Silent_p.G628G	p.G628G			1	2	3	1.993097	Q8N612	F16A2_HUMAN		9	2147	-			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	1	1	hg19	c.1884T>C	CCDS44530.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_032127			40	40		148	143	0		1	1		0	0	34	0		1	9.999712e-01	0	27	0	36	0	40	148
FAM160A2	84067	broad.mit.edu	37	11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000449352.2	-	8	1677	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607																																						ENST00000449352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1414-1416)Gag>Tag		family with sequence similarity 160, member A2							121.0	106.0	111.0					11																	6239851		2201	4296	6497	SO:0001587	stop_gained	84067	0	0					g.chr11:6239851C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1414G>T	chr11.hg19:g.6239851C>A	ENSP00000416918:p.Glu472*	0					FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*	p.E472*			1	2	3	1.993097	Q8N612	F16A2_HUMAN		8	1677	-			Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	ENST00000449352.2	0	1	hg19	c.1414G>T	CCDS44530.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.899205	0.98996	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	472;397;472;472	.	ENSP00000265978:E472X	E	-	1	0	0	FAM160A2	6196427	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1		2	2	2	0		0	0	150		150	147	1	2.060000	-3.494859	1	0.170000	NM_032127			164	158		683	670	1		1	1		0	0	150	0		1	9.999989e-01	0	15	0	66	0	164	683
FAM160A2	84067	broad.mit.edu	37	11	6244424	6244424	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000449352.2	-	4	1085	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000265978.4_Silent_p.R274R|FAM160A2_ENST00000524416.1_Silent_p.R274R			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473																																						ENST00000449352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(820-822)cgA>cgG		family with sequence similarity 160, member A2							122.0	124.0	123.0					11																	6244424		2201	4296	6497	SO:0001819	synonymous_variant	84067	0	0					g.chr11:6244424T>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.822A>G	chr11.hg19:g.6244424T>C		0					FAM160A2_ENST00000265978.4_Silent_p.R274R|FAM160A2_ENST00000524416.1_Silent_p.R274R	p.R274R			1	2	3	1.993097	Q8N612	F16A2_HUMAN		4	1085	-			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	1	1	hg19	c.822A>G	CCDS44530.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1		2	2	2	0		0	0	226		226	218	1	2.060000	-20.000000	1	0.170000	NM_032127			201	200		689	677	1		1	1		0	0	226	0		1	9.999998e-01	0	30	0	46	0	201	689
FAM160A2	84067	broad.mit.edu	37	11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000449352.2	-	3	481	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000265978.4_Missense_Mutation_p.T73I|FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	73					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622																																						ENST00000449352.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(217-219)aCt>aTt		family with sequence similarity 160, member A2							42.0	41.0	41.0					11																	6245399		2201	4296	6497	SO:0001583	missense	84067	0	0					g.chr11:6245399G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.218C>T	chr11.hg19:g.6245399G>A	ENSP00000416918:p.Thr73Ile	0					FAM160A2_ENST00000265978.4_Missense_Mutation_p.T73I|FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I	p.T73I			1	2	3	1.993097	Q8N612	F16A2_HUMAN		3	481	-			Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	1	1	hg19	c.218C>T	CCDS44530.1	1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332681	0.41297	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14391	3.13;3.13;2.51	4.85	2.77	0.32553	4.85	2.77	0.32553	.	0.127864	0.51477	D	0.000100	T	0.11665	0.0284	L	0.31664	0.95	0.41178	D	0.986217	B;B;P	0.41978	0.215;0.073;0.767	B;B;B	0.44044	0.146;0.103;0.439	T	0.08868	-1.0701	10	0.42905	T	0.14	-6.3832	8.6136	0.33817	0.0935:0.0:0.749:0.1576	.	73;73;73	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	I	73	ENSP00000416918:T73I;ENSP00000265978:T73I;ENSP00000431773:T73I	ENSP00000265978:T73I	T	-	2	0	0	FAM160A2	6201975	6201975	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	1.230000	0.43646	0.655000	0.94253	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_032127			59	59		246	240	1		1	1		0	0	58	0		1	9.996973e-01	0	24	0	28	0	59	246
CNGA4	1262	broad.mit.edu	37	11	6261612	6261612	+	Silent	SNP	C	C	T	rs377739445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000379936.2	+	4	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	196					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)			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)		ACCTGGGCTTCGGGCGTGACG	0.552																																						ENST00000379936.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(586-588)ttC>ttT		cyclic nucleotide gated channel alpha 4		C		0,4396		0,0,2198	62.0	65.0	64.0		588	-1.8	1.0	11		64	1,8583		0,1,4291	no	coding-synonymous	CNGA4	NM_001037329.3		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		196/576	6261612	1,12979	2198	4292	6490	SO:0001819	synonymous_variant	1262	3	121396	37				g.chr11:6261612C>T	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.588C>T	chr11.hg19:g.6261612C>T		0					CNGA4_ENST00000533426.1_Intron	p.F196F	NM_001037329.3	NP_001032406.1	1	2	3	1.993097	Q8IV77	CNGA4_HUMAN		4	703	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Silent	SNP	ENST00000379936.2	1	1	hg19	c.588C>T	CCDS31408.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-3.267121	1	0.170000	NM_001037329			145	141		654	650	0		1	0		0	0	140	0		1	0	0	0	0	1	0	145	654
CCKBR	887	broad.mit.edu	37	11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000334619.2	+	3	654	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000525462.1_Missense_Mutation_p.S154I|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	154					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|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)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602																																						ENST00000334619.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(460-462)aGc>aTc		cholecystokinin B receptor	Pentagastrin(DB00183)						53.0	47.0	49.0					11																	6291375		2201	4296	6497	SO:0001583	missense	887	0	0					g.chr11:6291375G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.461G>T	chr11.hg19:g.6291375G>T	ENSP00000335544:p.Ser154Ile	0					CCKBR_ENST00000525462.1_Missense_Mutation_p.S154I|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I|CCKBR_ENST00000525014.1_3'UTR	p.S154I	NM_176875.3	NP_795344.1	1	2	3	1.993097	P32239	GASR_HUMAN		3	654	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	1	1	hg19	c.461G>T	CCDS7761.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489164	0.84962	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.33654	2.27;1.4;2.27	4.81	4.81	0.61882	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.20328	0.56	0.58432	D	0.999995	P;D;D	0.61697	0.944;0.99;0.983	P;D;D	0.67900	0.792;0.923;0.954	T	0.28396	-1.0045	10	0.32370	T	0.25	.	16.5922	0.84769	0.0:0.0:1.0:0.0	.	154;88;154	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	154;70;154	ENSP00000335544:S154I;ENSP00000432079:S70I;ENSP00000435534:S154I	ENSP00000335544:S154I	S	+	2	0	0	CCKBR	6247951	6247951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.505000	0.84491	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_176875			62	62		268	267	1		1	0		0	0	51	0		1	0	0	0	0	1	0	62	268
CCKBR	887	broad.mit.edu	37	11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A	rs200480495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000334619.2	+	5	1377	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	CCKBR_ENST00000525462.1_Missense_Mutation_p.R464H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	395					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|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)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647																																						ENST00000334619.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996287	0.990000	1.000000																										0				61						c.(1183-1185)cGt>cAt		cholecystokinin B receptor	Pentagastrin(DB00183)						101.0	88.0	92.0					11																	6292613		2201	4296	6497	SO:0001583	missense	887	0	0					g.chr11:6292613G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1184G>A	chr11.hg19:g.6292613G>A	ENSP00000335544:p.Arg395His	0					CCKBR_ENST00000525462.1_Missense_Mutation_p.R464H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H	p.R395H	NM_176875.3	NP_795344.1	1	2	3	1.993097	P32239	GASR_HUMAN		5	1377	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	1	1	hg19	c.1184G>A	CCDS7761.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618093	0.66787	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.320210	0.28996	N	0.013466	T	0.50188	0.1601	L	0.34521	1.04	0.32301	N	0.565033	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.943	T	0.59726	-0.7400	10	0.62326	D	0.03	.	10.9615	0.47387	0.0865:0.0:0.9135:0.0	.	464;395	P32239-2;P32239	.;GASR_HUMAN	H	395;311;464	ENSP00000335544:R395H;ENSP00000432079:R311H;ENSP00000435534:R464H	ENSP00000335544:R395H	R	+	2	0	0	CCKBR	6249189	6249189	0.012000	0.17670	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.425000	0.82216	0.557000	0.71058	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	1	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-19.892120	1	0.170000	NM_176875			70	70		629	617	1		1			0	0	112	0		1	0	0	0	0	0	0	70	629
PRKCDBP	112464	broad.mit.edu	37	11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C	rs369741142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000303927.3	-	2	670	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	167					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCTCCTCGTCCGAGCTCTC	0.692																																						ENST00000303927.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999582	0.990000	1.000000																										0				9						c.(499-501)gAc>gGc		protein kinase C, delta binding protein		T	GLY/ASP	0,4400		0,0,2200	18.0	22.0	20.0		500	5.1	0.6	11		20	1,8583		0,1,4291	no	missense	PRKCDBP	NM_145040.2	94	0,1,6491	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	167/262	6340679	1,12983	2200	4292	6492	SO:0001583	missense	112464	0	0					g.chr11:6340679T>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.500A>G	chr11.hg19:g.6340679T>C	ENSP00000307292:p.Asp167Gly	0					PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	p.D167G	NM_145040.2	NP_659477.2	1	2	3	1.993097	Q969G5	PRDBP_HUMAN		2	670	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Missense_Mutation	SNP	ENST00000303927.3	1	1	hg19	c.500A>G	CCDS7762.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311230	0.81358	0.0	1.16E-4	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62498	0.02;0.02	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.056346	0.64402	D	0.000002	T	0.64159	0.2573	L	0.47716	1.5	0.29727	N	0.838205	P	0.43094	0.799	P	0.49829	0.623	T	0.66712	-0.5854	10	0.87932	D	0	-24.4683	11.2449	0.48991	0.0:0.0:0.0:1.0	.	167	Q969G5	PRDBP_HUMAN	G	167;199	ENSP00000307292:D167G;ENSP00000432047:D199G	ENSP00000307292:D167G	D	-	2	0	0	PRKCDBP	6297255	6297255	0.944000	0.32072	0.601000	0.28877	0.976000	0.68499	2.835000	0.48175	1.920000	0.55613	0.459000	0.35465	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_145040			34	34		229	225	1		1	1		0	0	42	0		1	1	0	110	0	382	0	34	229
APBB1	322	broad.mit.edu	37	11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000609360.1	-	10	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	492	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			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)		AGGCTGGTGGCGATGTTCTTG	0.582																																					GBM(147;1810 2556 5672 39622)	ENST00000609360.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				24						c.(1474-1476)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							154.0	112.0	126.0					11																	6422833		2201	4296	6497	SO:0001583	missense	322	0	0					g.chr11:6422833C>T	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.1474G>A	chr11.hg19:g.6422833C>T	ENSP00000477213:p.Ala492Thr	0					APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T	p.A492T	NM_001164.3	NP_001155.1	1	2	3	1.993097	O00213	APBB1_HUMAN		10	1573	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	1	1	hg19	c.1474G>A		1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880540	0.72294	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.15	4.15	0.48705	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.075519	0.51477	N	0.000085	T	0.47002	0.1422	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.973;1.0	D;B;P;D	0.68483	0.958;0.378;0.497;0.939	T	0.49504	-0.8933	10	0.62326	D	0.03	-3.8853	13.9432	0.64069	0.0:1.0:0.0:0.0	.	95;492;270;490	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	T	490;490;492;341;233;257;270;231	ENSP00000299402:A490T;ENSP00000311912:A490T;ENSP00000374556:A492T;ENSP00000433338:A270T;ENSP00000437114:A231T	ENSP00000299402:A490T	A	-	1	0	0	APBB1	6379409	6379409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.078110	1	0.170000	NM_001164			45	43		269	262	1		1	0		0	0	67	0		1	9.999053e-01	0	1	0	84	0	45	269
APBB1	322	broad.mit.edu	37	11	6432329	6432329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000609360.1	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	83					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)			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)		GGTCACGGTGGGCCGTGGCGG	0.662																																					GBM(147;1810 2556 5672 39622)	ENST00000609360.1	1.000000	0.360000	5.400000e-01	4.100000e-01	0.470000	0.495585	0.470000	0.470000																										0				24						c.(247-249)gcC>gcT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							88.0	104.0	98.0					11																	6432329		2201	4296	6497	SO:0001819	synonymous_variant	322	0	0					g.chr11:6432329G>A	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.249C>T	chr11.hg19:g.6432329G>A		0					APBB1_ENST00000311051.3_Silent_p.A83A|APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A	p.A83A	NM_001164.3	NP_001155.1	1	2	3	1.993097	O00213	APBB1_HUMAN		2	348	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	1	1	hg19	c.249C>T		0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	0	0	1		2	2	2	0		0	0	270		270	265	1	2.060000	-4.550099	1	0.170000	NM_001164			62	62		1496	1469	0		1	1		0	0	270	0		1	7.368602e-01	0	2	0	63	0	62	1496
TRIM3	10612	broad.mit.edu	37	11	6472627	6472627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6472627G>A	ENST00000525074.1	-	8	1969	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000345851.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	525					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)			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)		AGCGTCCTCGGACCCCAAAAC	0.587																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.150000	4.000000e-01	2.100000e-01	0.290000	0.326440	0.290000	0.270000																										0				27						c.(1573-1575)gtC>gtT		tripartite motif containing 3							81.0	77.0	78.0					11																	6472627		2201	4296	6497	SO:0001819	synonymous_variant	10612	0	0					g.chr11:6472627G>A	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.1575C>T	chr11.hg19:g.6472627G>A		0					TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000345851.3_Silent_p.V525V	p.V525V	NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		8	1969	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	0	1	hg19	c.1575C>T	CCDS7764.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	0	0	0		2	2	2	0		0	0	100		100	99	1	2.060000	-9.761422	1	0.170000	NM_006458			11	9		455	445	0		1	0		0	0	100	0		9.981175e-01	2.644067e-01	0	0	0	39	0	11	455
TRIM3	10612	broad.mit.edu	37	11	6477406	6477406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3						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)			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)		CCACGACTGCCTGTGGGAAGG	0.537																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.e7-1		tripartite motif containing 3							94.0	86.0	88.0					11																	6477406		2201	4296	6497	SO:0001630	splice_region_variant	10612	0	0					g.chr11:6477406C>T	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.1430-1G>A	chr11.hg19:g.6477406C>T		0					TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site		NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		7	1824	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	1	1	hg19		CCDS7764.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244253	0.79912	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0997	0.89501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TRIM3	6433982	6433982	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.463000	0.80869	2.610000	0.88304	0.563000	0.77884	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.237054	1	0.170000	NM_006458	Intron		63	62		324	319	1		1			0	0	70	0		1	0	0	0	0	0	0	63	324
TRIM3	10612	broad.mit.edu	37	11	6477726	6477726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000345851.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					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)			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)		AGGGGCTGCCGCGCACTGGCT	0.677																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1228-1230)cgC>cgT		tripartite motif containing 3							16.0	16.0	16.0					11																	6477726		2191	4282	6473	SO:0001819	synonymous_variant	10612	1	121092	22				g.chr11:6477726G>A	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.1230C>T	chr11.hg19:g.6477726G>A		0					TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000345851.3_Silent_p.R410R	p.R410R	NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		6	1624	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	1	1	hg19	c.1230C>T	CCDS7764.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1		2	2	2	0		0	0	30		30	26	1	2.060000	-20.000000	1	0.170000	NM_006458			42	42		135	132	1		1	0		0	0	30	0		1	1.469654e-01	0	0	0	3	0	42	135
TRIM3	10612	broad.mit.edu	37	11	6478645	6478645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478645G>A	ENST00000525074.1	-	5	971	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	193					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)			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)		TCTGCCTTGCGCTCCTGCAGC	0.612																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.276518	0.230000	0.230000																										0				27						c.(577-579)Cgc>Tgc		tripartite motif containing 3							72.0	69.0	70.0					11																	6478645		2201	4296	6497	SO:0001583	missense	10612	2	121412	33				g.chr11:6478645G>A	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.577C>T	chr11.hg19:g.6478645G>A	ENSP00000433102:p.Arg193Cys	0					TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C	p.R193C	NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		5	971	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	0	1	hg19	c.577C>T	CCDS7764.1	0	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382009	0.61845	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.7;-0.7;-0.87;-0.7;-1.86;0.89	5.15	4.24	0.50183	5.15	4.24	0.50183	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.65975	2.015	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.815;0.997	D;B;P	0.64042	0.921;0.071;0.836	D	0.86892	0.2049	10	0.42905	T	0.14	-9.609	7.5834	0.27978	0.0849:0.0:0.7521:0.163	.	74;74;193	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	C	193;193;193;193;182;193;193;74;193	ENSP00000433102:R193C;ENSP00000340797:R193C;ENSP00000441091:R193C;ENSP00000352508:R193C;ENSP00000445460:R74C;ENSP00000433070:R193C	ENSP00000337094:R182C	R	-	1	0	0	TRIM3	6435221	6435221	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.499000	0.45372	1.177000	0.42855	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	0	0	0		2	2	2	0		0	0	88		88	86	1	2.060000	-7.321518	1	0.170000	NM_006458			8	9		414	409	0		1	0		0	0	88	0		9.891004e-01	1.298709e-01	0	0	0	28	0	8	414
TRIM3	10612	broad.mit.edu	37	11	6479076	6479076	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000345851.3_Splice_Site_p.T122M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	122					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)			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)		AAACTCCATCGTCTGCGGTAC	0.602																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(364-366)aCg>aTg		tripartite motif containing 3							85.0	76.0	79.0					11																	6479076		2201	4296	6497	SO:0001630	splice_region_variant	10612	7	121412	41				g.chr11:6479076G>A	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.364-1C>T	chr11.hg19:g.6479076G>A		0					TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M|TRIM3_ENST00000345851.3_Splice_Site_p.T122M	p.T122M	NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		4	759	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	1	0	hg19	c.365C>T	CCDS7764.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119405	0.37436	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.06	5.06	0.68205	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.225856	0.46145	D	0.000306	T	0.36468	0.0968	N	0.11927	0.2	0.39543	D	0.968854	D;D;B	0.63046	0.992;0.984;0.367	P;P;B	0.57283	0.599;0.817;0.264	T	0.28839	-1.0031	10	0.46703	T	0.11	-3.5121	7.8979	0.29717	0.1767:0.0:0.8233:0.0	.	3;3;122	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	122;122;122;122;122;122;122;3;122	ENSP00000433102:T122M;ENSP00000340797:T122M;ENSP00000441091:T122M;ENSP00000352508:T122M;ENSP00000445460:T3M;ENSP00000433070:T122M	ENSP00000337094:T122M	T	-	2	0	0	TRIM3	6435652	6435652	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.699000	0.68310	2.345000	0.79718	0.462000	0.41574	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_006458	Missense_Mutation		97	95		441	434	1		1	0		0	0	72	0		1	9.115326e-01	0	1	0	20	0	97	441
TRIM3	10612	broad.mit.edu	37	11	6479370	6479370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	96					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)			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)		CCGGGTCGTGGGCCCCATCAG	0.652																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(286-288)gcC>gcT		tripartite motif containing 3							44.0	47.0	46.0					11																	6479370		2201	4296	6497	SO:0001819	synonymous_variant	10612	0	0					g.chr11:6479370G>A	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.288C>T	chr11.hg19:g.6479370G>A		0					TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000345851.3_Silent_p.A96A	p.A96A	NM_001248006.1	NP_001234935.1	1	2	3	1.993097	O75382	TRIM3_HUMAN		3	682	-		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)	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	1	1	hg19	c.288C>T	CCDS7764.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1		2	2	2	0		0	0	74		74	68	1	2.060000	-3.340986	1	0.170000	NM_006458			77	69		379	356	1		1	1		0	0	74	0		1	9.950418e-01	0	11	0	31	0	77	379
ARFIP2	23647	broad.mit.edu	37	11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	96					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(286-288)gTc>gCc		ADP-ribosylation factor interacting protein 2							90.0	82.0	85.0					11																	6500398		2201	4296	6497	SO:0001583	missense	23647	0	0					g.chr11:6500398A>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.287T>C	chr11.hg19:g.6500398A>G	ENSP00000254584:p.Val96Ala	0					ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000530751.1_5'Flank	p.V96A	NM_012402.3	NP_036534.1	1	2	3	1.993097	P53365	ARFP2_HUMAN		4	370	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	1	1	hg19	c.287T>C	CCDS7765.1	1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003961	0.93287	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.79352	-1.26;-1.26;-1.26	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.215125	0.48767	D	0.000161	D	0.83510	0.5270	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.863	P;P	0.54060	0.741;0.484	D	0.85554	0.1223	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	129;96	B4DUZ3;P53365	.;ARFP2_HUMAN	A	96;96;58;96	ENSP00000254584:V96A;ENSP00000379998:V96A;ENSP00000398375:V58A	ENSP00000254584:V96A	V	-	2	0	0	ARFIP2	6456974	6456974	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.333000	0.79214	2.148000	0.66965	0.397000	0.26171	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_012402			53	53		293	287	1		1	1		0	0	65	0		1	1	0	101	0	238	0	53	293
DNHD1	144132	broad.mit.edu	37	11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000527990.2	+	2	752	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498																																						ENST00000527990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(751-753)cAg>cCg		dynein heavy chain domain 1							81.0	70.0	73.0					11																	6523988		2201	4296	6497	SO:0001583	missense	144132	0	0					g.chr11:6523988A>C	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.752A>C	chr11.hg19:g.6523988A>C	ENSP00000436180:p.Gln251Pro	0					DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P	p.Q251P			1	2	3	1.993097	Q96M86	DNHD1_HUMAN		2	752	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	1	1	hg19	c.752A>C	CCDS44532.1	1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446580	0.25987	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27402	1.67;2.66;1.67	5.63	3.17	0.36434	5.63	3.17	0.36434	.	1.037430	0.07577	N	0.919635	T	0.41719	0.1171	M	0.68317	2.08	0.09310	N	1	P;D	0.60160	0.917;0.987	B;P	0.52217	0.446;0.693	T	0.18335	-1.0340	10	0.23891	T	0.37	.	8.0455	0.30547	0.6741:0.0:0.0:0.3259	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	251	ENSP00000254579:Q251P;ENSP00000346716:Q251P;ENSP00000436180:Q251P	ENSP00000254579:Q251P	Q	+	2	0	0	DNHD1	6480564	6480564	0.000000	0.05858	0.016000	0.15963	0.281000	0.26958	-0.175000	0.09825	0.338000	0.23692	0.455000	0.32223	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.997990	1	0.170000	NM_144666			39	39		181	177	1		1	0		0	0	43	0		1	8.695916e-02	0	0	0	3	0	39	181
DNHD1	144132	broad.mit.edu	37	11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000527990.2	+	7	1715	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A|DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	572					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493																																						ENST00000527990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1714-1716)gTg>gCg		dynein heavy chain domain 1							141.0	127.0	132.0					11																	6541262		2201	4296	6497	SO:0001583	missense	144132	0	0					g.chr11:6541262T>C	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.1715T>C	chr11.hg19:g.6541262T>C	ENSP00000436180:p.Val572Ala	0					DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A|DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A	p.V572A			1	2	3	1.993097	Q96M86	DNHD1_HUMAN		7	1715	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	1	1	hg19	c.1715T>C	CCDS44532.1	1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429110	0.04701	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26957	1.7;2.74;1.7	5.88	2.21	0.28008	5.88	2.21	0.28008	.	0.953008	0.08759	N	0.898000	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.39418	-0.9615	10	0.09590	T	0.72	.	4.5634	0.12172	0.4278:0.0956:0.0:0.4766	.	572;572	Q96M86;Q96M86-4	DNHD1_HUMAN;.	A	572	ENSP00000254579:V572A;ENSP00000346716:V572A;ENSP00000436180:V572A	ENSP00000254579:V572A	V	+	2	0	0	DNHD1	6497838	6497838	0.269000	0.24143	0.750000	0.31169	0.017000	0.09413	0.687000	0.25407	0.119000	0.18210	-0.496000	0.04628	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_144666			119	118		557	552	1		1	0		0	0	120	0		1	8.284780e-02	0	1	0	2	0	119	557
DNHD1	144132	broad.mit.edu	37	11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000527990.2	+	33	11309	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3770					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527																																						ENST00000527990.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998848	0.990000	1.000000																										0				55						c.(11308-11310)tAt>tGt		dynein heavy chain domain 1							86.0	87.0	86.0					11																	6587919		2028	4186	6214	SO:0001583	missense	144132	0	0					g.chr11:6587919A>G	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.11309A>G	chr11.hg19:g.6587919A>G	ENSP00000436180:p.Tyr3770Cys	0					DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C	p.Y3770C			1	2	3	1.993097	Q96M86	DNHD1_HUMAN		33	11309	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	1	1	hg19	c.11309A>G	CCDS44532.1	1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035064	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25749	1.78;1.78	4.52	1.55	0.23275	4.52	1.55	0.23275	.	1.253460	0.05804	N	0.612835	T	0.12561	0.0305	N	0.03608	-0.345	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	0.29212	-1.0019	10	0.87932	D	0	3.8543	5.9195	0.19073	0.1776:0.1562:0.6662:0.0	.	2858;38;3770	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3770;3770;38;38	ENSP00000254579:Y3770C;ENSP00000436180:Y3770C	ENSP00000254579:Y3770C	Y	+	2	0	0	DNHD1	6544495	6544495	0.009000	0.17119	0.015000	0.15790	0.045000	0.14185	0.726000	0.25984	0.234000	0.21139	-0.146000	0.13790	TAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_144666			15	15		79	77	1		1	0		0	0	27	0		9.999040e-01	2.920962e-02	0	0	0	2	0	15	79
DNHD1	144132	broad.mit.edu	37	11	6588955	6588955	+	Silent	SNP	G	G	A	rs375313570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000527990.2	+	34	12216	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000254579.6_Silent_p.T4072T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4072					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592																																						ENST00000527990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(12214-12216)acG>acA		dynein heavy chain domain 1		G		0,4128		0,0,2064	73.0	75.0	74.0		12216	1.7	0.0	11		74	2,8378		0,2,4188	no	coding-synonymous	DNHD1	NM_144666.2		0,2,6252	AA,AG,GG		0.0239,0.0,0.016		4072/4754	6588955	2,12506	2064	4190	6254	SO:0001819	synonymous_variant	144132	5	121022	41				g.chr11:6588955G>A	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.12216G>A	chr11.hg19:g.6588955G>A		0					DNHD1_ENST00000254579.6_Silent_p.T4072T	p.T4072T			1	2	3	1.993097	Q96M86	DNHD1_HUMAN		34	12216	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	1	1	hg19	c.12216G>A	CCDS44532.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_144666			86	85		353	348	1		1	0		0	0	107	0		1	0	0	0	0	1	0	86	353
DNHD1	144132	broad.mit.edu	37	11	6592149	6592149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000527990.2	+	40	13407	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000254579.6_Silent_p.P4469P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4469					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627																																						ENST00000527990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(13405-13407)ccG>ccA		dynein heavy chain domain 1							46.0	52.0	50.0					11																	6592149		2078	4205	6283	SO:0001819	synonymous_variant	144132	0	0					g.chr11:6592149G>A	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.13407G>A	chr11.hg19:g.6592149G>A		0					DNHD1_ENST00000254579.6_Silent_p.P4469P	p.P4469P			1	2	3	1.993097	Q96M86	DNHD1_HUMAN		40	13407	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	1	1	hg19	c.13407G>A	CCDS44532.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.495653	1	0.170000	NM_144666			67	66		273	273	1		1	0		0	0	49	0		1	1.037156e-01	0	1	0	2	0	67	273
RRP8	23378	broad.mit.edu	37	11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000254605.6	-	6	1304	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	396					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498																																						ENST00000254605.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				13						c.(1186-1188)cGc>cAc		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	HIS/ARG	0,4402		0,0,2201	39.0	40.0	40.0		1187	5.9	1.0	11	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	RRP8	NM_015324.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	396/457	6621780	1,12993	2201	4296	6497	SO:0001583	missense	23378	1	121412	30				g.chr11:6621780C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1187G>A	chr11.hg19:g.6621780C>T	ENSP00000254605:p.Arg396His	0					RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	p.R396H	NM_015324.3	NP_056139.1	1	2	3	1.993097	O43159	RRP8_HUMAN		6	1304	-			Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	1	1	hg19	c.1187G>A	CCDS31411.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037135	0.93630	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.60920	0.15;0.15	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75158	-0.3416	10	0.62326	D	0.03	-1.3872	18.8347	0.92157	0.0:1.0:0.0:0.0	.	396	O43159	RRP8_HUMAN	H	396;80	ENSP00000254605:R396H;ENSP00000436960:R80H	ENSP00000254605:R396H	R	-	2	0	0	RRP8	6578356	6578356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.736000	0.74811	2.793000	0.96121	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.222479	1	0.170000	NM_015324			32	32		156	151	1		1	1		0	0	38	0		1	9.999894e-01	0	34	0	58	0	32	156
RRP8	23378	broad.mit.edu	37	11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T	rs199533609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000254605.6	-	3	851	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ILK_ENST00000528995.1_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	245					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17893	0.001		0.0	False		,,,				2504	0.0					ENST00000254605.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998027	0.990000	1.000000																										0				13						c.(733-735)cGg>cAg		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	28.0	28.0	28.0		734	5.8	0.8	11		28	0,8592		0,0,4296	no	missense	RRP8	NM_015324.3	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	245/457	6622562	1,12993	2201	4296	6497	SO:0001583	missense	23378	2	121410	32				g.chr11:6622562C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.734G>A	chr11.hg19:g.6622562C>T	ENSP00000254605:p.Arg245Gln	0					RRP8_ENST00000534343.1_Intron|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank	p.R245Q	NM_015324.3	NP_056139.1	1	2	3	1.993097	O43159	RRP8_HUMAN		3	851	-			Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	1	1	hg19	c.734G>A	CCDS31411.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.900420	0.72754	2.27E-4	0.0	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.058855	0.64402	D	0.000002	T	0.32071	0.0817	N	0.20685	0.6	0.80722	D	1	P	0.44816	0.844	B	0.32149	0.141	T	0.17198	-1.0377	10	0.42905	T	0.14	-6.5464	18.7357	0.91753	0.0:1.0:0.0:0.0	.	245	O43159	RRP8_HUMAN	Q	245	ENSP00000254605:R245Q;ENSP00000436246:R245Q	ENSP00000254605:R245Q	R	-	2	0	0	RRP8	6579138	6579138	1.000000	0.71417	0.767000	0.31495	0.969000	0.65631	5.095000	0.64529	2.773000	0.95371	0.650000	0.86243	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_015324			22	21		148	148	1		1	1		0	0	28	0		9.999992e-01	9.933747e-01	0	15	0	42	0	22	148
ILK	3611	broad.mit.edu	37	11	6630170	6630170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6630170C>A	ENST00000396751.2	+	5	960	c.504C>A	c.(502-504)ttC>ttA	p.F168L	ILK_ENST00000528995.1_Missense_Mutation_p.S136Y|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	168					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AGGACACATTCTGGAAGGGGA	0.532																																						ENST00000396751.2	1.000000	0.090000	2.700000e-01	1.300000e-01	0.190000	0.230973	0.190000	0.180000																										0				1						c.(502-504)ttC>ttA		integrin-linked kinase							104.0	112.0	109.0					11																	6630170		2201	4296	6497	SO:0001583	missense	3611	0	0					g.chr11:6630170C>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.504C>A	chr11.hg19:g.6630170C>A	ENSP00000379975:p.Phe168Leu	0					RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y	p.F168L	NM_001014795.1	NP_001014795.1	1	2	3	1.993097	Q13418	ILK_HUMAN		5	960	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	0	1	hg19	c.504C>A	CCDS7768.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232771|2.232771	0.39498|0.39498	.|.	.|.	ENSG00000166333|ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000396751|ENST00000528995	T;D;T;T|T	0.81499|0.80214	-1.11;-1.5;-1.11;-1.11|-1.35	5.14|5.14	1.2|1.2	0.21068|0.21068	5.14|5.14	1.2|1.2	0.21068|0.21068	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|B	0.24882|0.02656	0.113|0.0	B|B	0.22152|0.01281	0.038|0.0	T|T	0.68135|0.68135	-0.5489|-0.5489	10|9	0.10111|0.62326	T|D	0.7|0.03	.|.	9.0754|9.0754	0.36517|0.36517	0.0:0.6997:0.0:0.3003|0.0:0.6997:0.0:0.3003	.|.	168|136	Q13418|B7Z418	ILK_HUMAN|.	L|Y	168;34;168;168|136	ENSP00000299421:F168L;ENSP00000439606:F34L;ENSP00000403487:F168L;ENSP00000379975:F168L|ENSP00000435323:S136Y	ENSP00000299421:F168L|ENSP00000435323:S136Y	F|S	+|+	3|2	2|0	2|0	ILK|ILK	6586746|6586746	6586746|6586746	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.064000|2.064000	0.41432|0.41432	0.072000|0.072000	0.16694|0.16694	0.561000|0.561000	0.74099|0.74099	TTC|TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	0	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-2.672075	1	0.170000	NM_004517			10	11		631	621	0		1	1		0	0	123	0		9.966840e-01	9.990376e-01	0	19	0	774	0	10	631
TPP1	1200	broad.mit.edu	37	11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T	rs546003291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000299427.6	-	9	1184	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Missense_Mutation_p.R132H	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GAAGGTAGGGCGGAACTGGTG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.001					ENST00000299427.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				23						c.(1123-1125)cGc>cAc		tripeptidyl peptidase I	Vitamin E(DB00163)						112.0	97.0	102.0					11																	6637257		2201	4296	6497	SO:0001583	missense	1200	4	121412	38				g.chr11:6637257C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1124G>A	chr11.hg19:g.6637257C>T	ENSP00000299427:p.Arg375His	0					TPP1_ENST00000533371.1_Missense_Mutation_p.R132H|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	p.R375H	NM_000391.3	NP_000382.3	1	2	3	1.993097	P49638	TTPA_HUMAN		9	1184	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	Q71V64	Missense_Mutation	SNP	ENST00000299427.6	1	1	hg19	c.1124G>A	CCDS7770.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478376	0.84747	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93712	0.7025	10	0.45353	T	0.12	-10.1855	18.5131	0.90925	0.0:1.0:0.0:0.0	.	375	O14773	TPP1_HUMAN	H	375;132	ENSP00000299427:R375H;ENSP00000437066:R132H	ENSP00000299427:R375H	R	-	2	0	0	TPP1	6593833	6593833	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.159000	0.64923	2.623000	0.88846	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.324601	1	0.170000				39	39		228	223	1		1	1		0	0	41	0		1	1	0	129	0	417	0	39	228
TPP1	1200	broad.mit.edu	37	11	6637890	6637890	+	Splice_Site	SNP	A	A	G	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000299427.6	-	7	947		c.e7+1		TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Splice_Site	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I						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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TCTTGGTAGTACCAGGGCTAC	0.582																																						ENST00000299427.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e7+1		tripeptidyl peptidase I	Vitamin E(DB00163)						75.0	73.0	74.0					11																	6637890		2201	4296	6497	SO:0001630	splice_region_variant	1200	0	0					g.chr11:6637890A>G	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.886+1T>C	chr11.hg19:g.6637890A>G		0					TPP1_ENST00000533371.1_Splice_Site|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA		NM_000391.3	NP_000382.3	1	2	3	1.993097	P49638	TTPA_HUMAN		7	947	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	Q71V64	Splice_Site	SNP	ENST00000299427.6	1	1	hg19		CCDS7770.1	1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560786	0.45590	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	.	.	.	4.59	4.59	0.56863	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9135	0.52753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TPP1	6594466	6594466	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.578000	0.90777	1.711000	0.51337	0.374000	0.22700	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000		Intron		65	63		315	306	1		1	0		0	0	61	0		1	3.022432e-02	0	1	0	1	0	65	315
DCHS1	8642	broad.mit.edu	37	11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3144					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)			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)		AGCGCACCTGCCACACATGGC	0.657																																						ENST00000299441.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999068	0.990000	1.000000																										0				103						c.(9430-9432)Gca>Aca		dachsous cadherin-related 1							14.0	15.0	15.0					11																	6643477		2189	4273	6462	SO:0001583	missense	8642	0	0					g.chr11:6643477C>T	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.9430G>A	chr11.hg19:g.6643477C>T	ENSP00000299441:p.Ala3144Thr	0					TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank	p.A3144T	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		21	9841	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	1	1	hg19	c.9430G>A	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817471	0.50633	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.000000	0.40302	N	0.001140	T	0.34571	0.0902	N	0.17474	0.49	0.42164	D	0.991615	P	0.47409	0.895	P	0.44518	0.452	T	0.08868	-1.0701	10	0.12103	T	0.63	.	16.3911	0.83541	0.0:1.0:0.0:0.0	.	3144	Q96JQ0	PCD16_HUMAN	T	3144	ENSP00000299441:A3144T	ENSP00000299441:A3144T	A	-	1	0	0	DCHS1	6600053	6600053	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.588000	0.82629	2.422000	0.82143	0.313000	0.20887	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	20		20	17	1	2.060000	-20.000000	1	0.170000	NM_003737			12	10		51	51	0		1	1		0	0	20	0		9.993068e-01	9.927897e-01	0	3	0	37	0	12	51
DCHS1	8642	broad.mit.edu	37	11	6643989	6643989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643989C>T	ENST00000299441.3	-	21	9329	c.8918G>A	c.(8917-8919)gGc>gAc	p.G2973D	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2973					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)			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)		TGACATTGGGCCAGGGGCTGC	0.637																																						ENST00000299441.3	1.000000	0.620000	1	9.600000e-01	0.990000	0.965309	0.990000	1.000000																										0				103						c.(8917-8919)gGc>gAc		dachsous cadherin-related 1							50.0	42.0	45.0					11																	6643989		2196	4288	6484	SO:0001583	missense	8642	1	120804	22				g.chr11:6643989C>T	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.8918G>A	chr11.hg19:g.6643989C>T	ENSP00000299441:p.Gly2973Asp	0					RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	p.G2973D	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		21	9329	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	0	1	hg19	c.8918G>A	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683073	0.47991	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	4.71	3.75	0.43078	4.71	3.75	0.43078	.	0.503830	0.15243	N	0.272800	T	0.54367	0.1854	L	0.42245	1.32	0.38260	D	0.941842	D	0.58970	0.984	P	0.52109	0.69	T	0.55780	-0.8087	10	0.37606	T	0.19	.	13.0641	0.59024	0.1608:0.8392:0.0:0.0	.	2973	Q96JQ0	PCD16_HUMAN	D	2973	ENSP00000299441:G2973D	ENSP00000299441:G2973D	G	-	2	0	0	DCHS1	6600565	6600565	0.364000	0.24997	1.000000	0.80357	0.983000	0.72400	0.174000	0.16743	2.450000	0.82876	0.655000	0.94253	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-12.613930	1	0.170000	NM_003737			6	6		42	38	1		1	0		0	0	13	0		9.584589e-01	9.771828e-01	0	1	0	52	0	6	42
DCHS1	8642	broad.mit.edu	37	11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2835	Cadherin 27. {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)			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)		TGTGGCCTGCACGTGACCCAA	0.567																																						ENST00000299441.3	1.000000	0.820000	1	9.900000e-01	0.990000	0.989688	0.990000	1.000000																										0				103						c.(8503-8505)gTg>gCg		dachsous cadherin-related 1							33.0	30.0	31.0					11																	6644403		2200	4293	6493	SO:0001583	missense	8642	0	0					g.chr11:6644403A>G	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.8504T>C	chr11.hg19:g.6644403A>G	ENSP00000299441:p.Val2835Ala	0					RP11-732A19.5_ENST00000526456.1_RNA	p.V2835A	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		21	8915	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	0	1	hg19	c.8504T>C	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934826	0.73442	.	.	ENSG00000166341	ENST00000299441	T	0.68624	-0.34	4.97	4.97	0.65823	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.81740	0.4886	M	0.89968	3.075	0.58432	D	0.999998	D	0.67145	0.996	P	0.58266	0.836	D	0.85659	0.1287	10	0.62326	D	0.03	.	13.6294	0.62186	1.0:0.0:0.0:0.0	.	2835	Q96JQ0	PCD16_HUMAN	A	2835	ENSP00000299441:V2835A	ENSP00000299441:V2835A	V	-	2	0	0	DCHS1	6600979	6600979	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.139000	0.94554	2.092000	0.63282	0.533000	0.62120	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-17.078490	1	0.170000	NM_003737			9	9		54	53	1		1	0		0	0	14	0		9.950115e-01	9.666536e-01	0	0	0	39	0	9	54
DCHS1	8642	broad.mit.edu	37	11	6644979	6644979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644979G>A	ENST00000299441.3	-	21	8339	c.7928C>T	c.(7927-7929)tCa>tTa	p.S2643L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2643	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		TGGGTCGCCTGAGCTGACAGT	0.597																																						ENST00000299441.3	1.000000	0.160000	4.500000e-01	2.300000e-01	0.320000	0.359516	0.320000	0.310000																										0				103						c.(7927-7929)tCa>tTa		dachsous cadherin-related 1							76.0	68.0	71.0					11																	6644979		2201	4296	6497	SO:0001583	missense	8642	0	0					g.chr11:6644979G>A	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.7928C>T	chr11.hg19:g.6644979G>A	ENSP00000299441:p.Ser2643Leu	0					RP11-732A19.5_ENST00000526456.1_RNA	p.S2643L	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		21	8339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	0	1	hg19	c.7928C>T	CCDS7771.1	0	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929099	0.73327	.	.	ENSG00000166341	ENST00000299441	T	0.43294	0.95	5.4	5.4	0.78164	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.38005	N	0.001853	T	0.68109	0.2965	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.70857	-0.4758	10	0.59425	D	0.04	.	17.9244	0.88979	0.0:0.0:1.0:0.0	.	2643	Q96JQ0	PCD16_HUMAN	L	2643	ENSP00000299441:S2643L	ENSP00000299441:S2643L	S	-	2	0	0	DCHS1	6601555	6601555	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.442000	0.80503	2.822000	0.97130	0.650000	0.86243	TCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-9.949633	1	0.170000	NM_003737			10	9		372	364	0		1	0		0	0	74	0		9.965829e-01	2.140239e-01	0	0	0	30	0	10	372
DCHS1	8642	broad.mit.edu	37	11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2517	Cadherin 24. {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.A2517T(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)		TAGTCCACAGCGGCATGGCTG	0.632																																						ENST00000299441.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										1	Substitution - Missense(1)	p.A2517T(1)	endometrium(1)	103						c.(7549-7551)Gct>Act		dachsous cadherin-related 1							27.0	28.0	28.0					11																	6645358		2201	4296	6497	SO:0001583	missense	8642	1	121384	24				g.chr11:6645358C>T	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.7549G>A	chr11.hg19:g.6645358C>T	ENSP00000299441:p.Ala2517Thr	0					RP11-732A19.5_ENST00000526456.1_RNA	p.A2517T	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		21	7960	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	1	1	hg19	c.7549G>A	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987492	0.02180	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	4.78	-3.44	0.04796	4.78	-3.44	0.04796	Cadherin (4);Cadherin-like (1);	0.801687	0.10522	N	0.664820	T	0.24236	0.0587	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27706	-1.0066	10	0.13470	T	0.59	.	6.5608	0.22485	0.1193:0.4814:0.0:0.3993	.	2517	Q96JQ0	PCD16_HUMAN	T	2517	ENSP00000299441:A2517T	ENSP00000299441:A2517T	A	-	1	0	0	DCHS1	6601934	6601934	0.001000	0.12720	0.781000	0.31783	0.363000	0.29612	0.260000	0.18424	-0.169000	0.10834	0.462000	0.41574	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-3.654773	1	0.170000	NM_003737			21	21		84	82	1		1	0		0	0	21	0		9.999987e-01	8.737707e-01	0	0	0	17	0	21	84
DCHS1	8642	broad.mit.edu	37	11	6646958	6646958	+	Splice_Site	SNP	C	C	T	rs148800772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6646958C>T	ENST00000299441.3	-	18	7143	c.6732G>A	c.(6730-6732)cgG>cgA	p.R2244R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2244	Cadherin 21. {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)			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)		TCAGCACCAACCTGGACACAA	0.587													C|||	31	0.0061901	0.0204	0.0043	5008	,	,		20762	0.0		0.001	False		,,,				2504	0.0					ENST00000299441.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999900	0.990000	1.000000																										0				103						c.(6730-6732)cgG>cgA		dachsous cadherin-related 1		C		97,4305	77.3+/-115.6	1,95,2105	38.0	37.0	37.0		6732	1.8	1.0	11	dbSNP_134	37	3,8589	3.0+/-9.4	0,3,4293	yes	coding-synonymous-near-splice	DCHS1	NM_003737.2		1,98,6398	TT,TC,CC		0.0349,2.2035,0.7696		2244/3299	6646958	100,12894	2201	4296	6497	SO:0001630	splice_region_variant	8642	265	121406	53				g.chr11:6646958C>T	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.6732-1G>A	chr11.hg19:g.6646958C>T		0						p.R2244R	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		18	7143	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Splice_Site	SNP	ENST00000299441.3	1	0	hg19	c.6732G>A	CCDS7771.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-3.662418	1	0.170000	NM_003737	Silent		28	28		157	155	1		1	0		0	0	31	0		1	9.772892e-01	0	0	0	37	0	28	157
DCHS1	8642	broad.mit.edu	37	11	6647793	6647793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2118	Cadherin 20. {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)			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)		CTGTACTAGGCTGGATGGAGA	0.542																																						ENST00000299441.3	1.000000	0.610000	1	7.300000e-01	0.860000	0.860877	0.860000	1.000000																										0				103						c.(6352-6354)caG>caA		dachsous cadherin-related 1							150.0	142.0	145.0					11																	6647793		2201	4296	6497	SO:0001819	synonymous_variant	8642	0	0					g.chr11:6647793C>T	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.6354G>A	chr11.hg19:g.6647793C>T		0						p.Q2118Q	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		15	6765	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Silent	SNP	ENST00000299441.3	1	1	hg19	c.6354G>A	CCDS7771.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-9.142633	1	0.170000	NM_003737			35	36		447	432	0		1	1		0	0	103	0		1	6.557693e-01	0	5	0	25	0	35	447
DCHS1	8642	broad.mit.edu	37	11	6651036	6651036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1634	Cadherin 15. {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.V1634V(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)		TGACGGTCAGGACCTGCGTGG	0.642																																						ENST00000299441.3	1.000000	0.110000	3.700000e-01	1.700000e-01	0.250000	0.293505	0.250000	0.230000																										1	Substitution - coding silent(1)	p.V1634V(1)	lung(1)	103						c.(4900-4902)gtC>gtT		dachsous cadherin-related 1							46.0	46.0	46.0					11																	6651036		2200	4295	6495	SO:0001819	synonymous_variant	8642	0	0					g.chr11:6651036G>A	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.4902C>T	chr11.hg19:g.6651036G>A		0					RP11-732A19.6_ENST00000526633.1_RNA	p.V1634V	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		11	5313	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Silent	SNP	ENST00000299441.3	0	1	hg19	c.4902C>T	CCDS7771.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-7.423519	1	0.170000	NM_003737			7	7		342	331	0		1	0		0	0	64	0		9.785462e-01	7.289413e-02	0	0	0	19	0	7	342
DCHS1	8642	broad.mit.edu	37	11	6652301	6652301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	ENST00000299441.3	-	9	4324	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1305	Cadherin 12. {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)			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)		AGCAGCTGGAGGCTGGCACTT	0.617																																						ENST00000299441.3	1.000000	0.590000	1	7.900000e-01	0.990000	0.923645	0.990000	1.000000																										0				103						c.(3913-3915)Ctc>Atc		dachsous cadherin-related 1							35.0	28.0	31.0					11																	6652301		2201	4296	6497	SO:0001583	missense	8642	0	0					g.chr11:6652301G>T	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.3913C>A	chr11.hg19:g.6652301G>T	ENSP00000299441:p.Leu1305Ile	0					RP11-732A19.6_ENST00000526633.1_RNA	p.L1305I	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		9	4324	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	0	1	hg19	c.3913C>A	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792351	0.16258	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	4.73	3.79	0.43588	4.73	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003226	T	0.30039	0.0752	N	0.17631	0.505	0.25427	N	0.988219	B	0.12013	0.005	B	0.16289	0.015	T	0.13953	-1.0490	10	0.18710	T	0.47	.	11.1874	0.48664	0.0:0.0:0.8158:0.1842	.	1305	Q96JQ0	PCD16_HUMAN	I	1305	ENSP00000299441:L1305I	ENSP00000299441:L1305I	L	-	1	0	0	DCHS1	6608877	6608877	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	1.122000	0.31295	1.185000	0.42971	0.467000	0.42956	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-18.692580	1	0.170000	NM_003737			13	13		137	132	0		1	0		0	0	16	0		9.995136e-01	3.379452e-01	0	0	0	13	0	13	137
DCHS1	8642	broad.mit.edu	37	11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	533	Cadherin 5. {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)			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)		CAGTGAGGCAGCCGTAGTGAT	0.587																																						ENST00000299441.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(1597-1599)gCt>gTt		dachsous cadherin-related 1							78.0	73.0	75.0					11																	6661247		2201	4296	6497	SO:0001583	missense	8642	0	0					g.chr11:6661247G>A	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.1598C>T	chr11.hg19:g.6661247G>A	ENSP00000299441:p.Ala533Val	0						p.A533V	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		2	2009	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	1	1	hg19	c.1598C>T	CCDS7771.1	1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050784	0.08243	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.18	5.18	0.71444	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.181621	0.26711	N	0.022890	T	0.57227	0.2039	L	0.28115	0.83	0.37390	D	0.912414	D	0.76494	0.999	D	0.83275	0.996	T	0.59685	-0.7408	10	0.36615	T	0.2	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	533	Q96JQ0	PCD16_HUMAN	V	533	ENSP00000299441:A533V	ENSP00000299441:A533V	A	-	2	0	0	DCHS1	6617823	6617823	1.000000	0.71417	0.231000	0.23993	0.408000	0.30992	3.776000	0.55356	2.588000	0.87417	0.579000	0.79373	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_003737			69	68		228	220	1		1	0		0	0	58	0		1	9.415385e-01	0	0	0	18	0	69	228
DCHS1	8642	broad.mit.edu	37	11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2. {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)			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)		TTGATGTCCAGCAGTGTCACG	0.607																																						ENST00000299441.3	1.000000	0.550000	9.100000e-01	6.500000e-01	0.770000	0.783113	0.770000	1.000000																										0				103						c.(736-738)Ctg>Atg		dachsous cadherin-related 1							105.0	105.0	105.0					11																	6662109		2201	4296	6497	SO:0001583	missense	8642	0	0					g.chr11:6662109G>T	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.736C>A	chr11.hg19:g.6662109G>T	ENSP00000299441:p.Leu246Met	0						p.L246M	NM_003737.2	NP_003728.1	1	2	3	1.993097	Q96JQ0	PCD16_HUMAN		2	1147	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	O15098	Missense_Mutation	SNP	ENST00000299441.3	1	1	hg19	c.736C>A	CCDS7771.1	0	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	2	DCHS1	6618685	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-8.536813	1	0.170000	NM_003737			40	40		577	570	0		1	0		0	0	97	0		1	1.629136e-01	0	0	0	11	0	40	577
OR2AG2	338755	broad.mit.edu	37	11	6790159	6790159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S10S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATGAAGCCGCTTCCCAAGG	0.443																																						ENST00000338569.2	1.000000	0.370000	8.300000e-01	4.800000e-01	0.630000	0.657392	0.630000	0.610000																										1	Substitution - coding silent(1)	p.S10S(1)	endometrium(1)	28						c.(28-30)agC>agT		olfactory receptor, family 2, subfamily AG, member 2							77.0	77.0	77.0					11																	6790159		2201	4296	6497	SO:0001819	synonymous_variant	338755	3	121410	33				g.chr11:6790159G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.30C>T	chr11.hg19:g.6790159G>A		0						p.S10S	NM_001004490.1	NP_001004490.1	1	2	3	1.993097	A6NM03	O2AG2_HUMAN		1	127	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Silent	SNP	ENST00000338569.2	1	1	hg19	c.30C>T	CCDS31413.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.314260	1	0.170000	NM_001004490			15	14		271	265	0		1	0		0	0	50	0		9.998591e-01	0	0	0	0	1	0	15	271
OR6A2	8590	broad.mit.edu	37	11	6816484	6816484	+	Silent	SNP	G	G	A	rs555709554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					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)			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)		CAGCCCAAGAGCCAGCAGCCA	0.498																																						ENST00000332601.3	1.000000	0.420000	9.000000e-01	5.500000e-01	0.700000	0.722832	0.700000	1.000000																										0				29						c.(454-456)ggC>ggT		olfactory receptor, family 6, subfamily A, member 2							72.0	71.0	71.0					11																	6816484		2201	4296	6497	SO:0001819	synonymous_variant	8590	0	0					g.chr11:6816484G>A	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.456C>T	chr11.hg19:g.6816484G>A		0						p.G152G	NM_003696.2	NP_003687.2	1	2	3	1.993097	O95222	OR6A2_HUMAN		1	644	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	1	1	hg19	c.456C>T	CCDS7772.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-19.717010	1	0.170000	NM_003696			17	17		273	269	0		1			0	0	53	0		9.999652e-01	0	0	0	0	0	0	17	273
OR6A2	8590	broad.mit.edu	37	11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	68					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)			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)		CTCCAGAAAGGACATATTAGC	0.438																																						ENST00000332601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(202-204)tCc>tTc		olfactory receptor, family 6, subfamily A, member 2							155.0	143.0	147.0					11																	6816737		2201	4296	6497	SO:0001583	missense	8590	0	0					g.chr11:6816737G>A	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.203C>T	chr11.hg19:g.6816737G>A	ENSP00000330384:p.Ser68Phe	0						p.S68F	NM_003696.2	NP_003687.2	1	2	3	1.993097	O95222	OR6A2_HUMAN		1	391	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	1	1	hg19	c.203C>T	CCDS7772.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770423	0.69992	.	.	ENSG00000184933	ENST00000332601	T	0.12361	2.69	4.95	4.95	0.65309	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.47710	0.1460	M	0.92604	3.325	0.39007	D	0.959472	D	0.89917	1.0	D	0.91635	0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	16.0847	0.81038	0.0:0.0:1.0:0.0	.	68	O95222	OR6A2_HUMAN	F	68	ENSP00000330384:S68F	ENSP00000330384:S68F	S	-	2	0	0	OR6A2	6773313	6773313	0.937000	0.31787	1.000000	0.80357	0.981000	0.71138	4.006000	0.57083	2.741000	0.93983	0.655000	0.94253	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_003696			107	104		423	413	1		1			0	0	85	0		1	0	0	0	0	0	0	107	423
OR6A2	8590	broad.mit.edu	37	11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	20					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)			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)		GGCGCAGGAGCAGGGAAGCCC	0.498																																						ENST00000332601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(58-60)Gct>Act		olfactory receptor, family 6, subfamily A, member 2							126.0	98.0	108.0					11																	6816882		2201	4296	6497	SO:0001583	missense	8590	0	0					g.chr11:6816882C>T	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.58G>A	chr11.hg19:g.6816882C>T	ENSP00000330384:p.Ala20Thr	0						p.A20T	NM_003696.2	NP_003687.2	1	2	3	1.993097	O95222	OR6A2_HUMAN		1	246	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	1	1	hg19	c.58G>A	CCDS7772.1	1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204918	0.06180	.	.	ENSG00000184933	ENST00000332601	T	0.00438	7.42	4.75	3.84	0.44239	4.75	3.84	0.44239	.	0.277043	0.24766	N	0.035767	T	0.00178	0.0005	N	0.02334	-0.595	0.30921	N	0.728018	P	0.48764	0.915	P	0.45276	0.475	T	0.45804	-0.9236	10	0.05833	T	0.94	.	7.4668	0.27326	0.0:0.8079:0.0:0.1921	.	20	O95222	OR6A2_HUMAN	T	20	ENSP00000330384:A20T	ENSP00000330384:A20T	A	-	1	0	0	OR6A2	6773458	6773458	0.000000	0.05858	0.980000	0.43619	0.035000	0.12851	0.027000	0.13621	1.368000	0.46115	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_003696			68	68		320	310	1		1			0	0	78	0		1	0	0	0	0	0	0	68	320
OR10A5	144124	broad.mit.edu	37	11	6867249	6867249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(334-336)gaA>gaG		olfactory receptor, family 10, subfamily A, member 5							122.0	120.0	121.0					11																	6867249		2201	4296	6497	SO:0001819	synonymous_variant	144124	0	0					g.chr11:6867249A>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.336A>G	chr11.hg19:g.6867249A>G		0					OR10A5_ENST00000379831.2_Silent_p.E116E	p.E112E			1	2	3	1.993097	Q9H207	O10A5_HUMAN		1	367	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	1	1	hg19	c.336A>G	CCDS7773.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	1	0	1		2	2	2	0		0	0	150		150	153	1	2.060000	-20.000000	1	0.170000	NM_178168			152	151		619	604	1		1			0	0	150	0		1	0	0	0	0	0	0	152	619
OR2D2	120776	broad.mit.edu	37	11	6913006	6913006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					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(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428																																						ENST00000299459.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(724-726)ggC>ggT		olfactory receptor, family 2, subfamily D, member 2							84.0	79.0	81.0					11																	6913006		2201	4296	6497	SO:0001819	synonymous_variant	120776	0	0					g.chr11:6913006G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.726C>T	chr11.hg19:g.6913006G>A		0						p.G242G	NM_003700.1	NP_003691.1	1	2	3	1.993097	Q9H210	OR2D2_HUMAN		1	824	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	1	1	hg19	c.726C>T	CCDS31416.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_003700			56	53		194	190	1		1			0	0	48	0		1	0	0	0	0	0	0	56	194
OR2D2	120776	broad.mit.edu	37	11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	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)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498																																						ENST00000299459.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(517-519)aGc>aAc		olfactory receptor, family 2, subfamily D, member 2							106.0	86.0	93.0					11																	6913214		2201	4296	6497	SO:0001583	missense	120776	1	121390	29				g.chr11:6913214C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.518G>A	chr11.hg19:g.6913214C>T	ENSP00000299459:p.Ser173Asn	0						p.S173N	NM_003700.1	NP_003691.1	1	2	3	1.993097	Q9H210	OR2D2_HUMAN		1	616	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	1	1	hg19	c.518G>A	CCDS31416.1	1	.	.	.	.	.	.	.	.	.	.	c	0.987	-0.695286	0.03303	.	.	ENSG00000166368	ENST00000299459	T	0.00107	8.72	5.12	-8.63	0.00878	5.12	-8.63	0.00878	GPCR, rhodopsin-like superfamily (1);	0.510233	0.18384	N	0.142866	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.47407	-0.9120	10	0.25751	T	0.34	-1.6953	0.3389	0.00330	0.2455:0.2205:0.1771:0.3569	.	173	Q9H210	OR2D2_HUMAN	N	173	ENSP00000299459:S173N	ENSP00000299459:S173N	S	-	2	0	0	OR2D2	6869790	6869790	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-2.039000	0.01418	-2.057000	0.00897	-1.792000	0.00626	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_003700			56	56		218	215	1		1			0	0	55	0		1	0	0	0	0	0	0	56	218
NLRP14	338323	broad.mit.edu	37	11	7060067	7060067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7060067C>A	ENST00000299481.4	+	2	596	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			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)		CAAGATGAACCTGAAGGATCT	0.502																																						ENST00000299481.4	1.000000	0.150000	5.700000e-01	2.500000e-01	0.380000	0.424302	0.380000	0.350000																										0				21						c.(250-252)Ctg>Atg		NLR family, pyrin domain containing 14							62.0	65.0	64.0					11																	7060067		2201	4296	6497	SO:0001583	missense	338323	0	0					g.chr11:7060067C>A	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.250C>A	chr11.hg19:g.7060067C>A	ENSP00000299481:p.Leu84Met	0						p.L84M	NM_176822.3	NP_789792.1	1	2	3	1.993097	Q86W24	NAL14_HUMAN		2	596	+			Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	1	1	hg19	c.250C>A	CCDS7776.1	0	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261442	0.23051	.	.	ENSG00000158077	ENST00000299481	T	0.51817	0.69	4.08	2.21	0.28008	4.08	2.21	0.28008	Pyrin (2);DEATH-like (2);	0.000000	0.36665	N	0.002478	T	0.61813	0.2377	M	0.77313	2.365	0.22552	N	0.998991	D	0.89917	1.0	D	0.81914	0.995	T	0.49204	-0.8964	10	0.35671	T	0.21	.	6.4316	0.21801	0.0:0.7794:0.0:0.2206	.	84	Q86W24	NAL14_HUMAN	M	84	ENSP00000299481:L84M	ENSP00000299481:L84M	L	+	1	2	2	NLRP14	7016643	7016643	0.998000	0.40836	0.999000	0.59377	0.355000	0.29361	0.801000	0.27055	0.686000	0.31488	-0.140000	0.14226	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.536078	1	0.170000	NM_176822			6	6		193	188	0		1	0		0	0	49	0		9.628470e-01	0	0	0	0	1	0	6	193
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			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)		CTGAAGATTTCCATCATGGAA	0.418																																						ENST00000299481.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(448-450)ttC>ttT		NLR family, pyrin domain containing 14							70.0	78.0	75.0					11																	7063707		2201	4296	6497	SO:0001819	synonymous_variant	338323	0	0					g.chr11:7063707C>T	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.450C>T	chr11.hg19:g.7063707C>T		0						p.F150F	NM_176822.3	NP_789792.1	1	2	3	1.993097	Q86W24	NAL14_HUMAN		4	796	+			Q7RTR6	Silent	SNP	ENST00000299481.4	1	1	hg19	c.450C>T	CCDS7776.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_176822			91	90		343	338	1		1	1		0	0	71	0		1	4.490584e-02	0	2	0	0	0	91	343
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			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)		GTCTCACAGAGGCTGGCTGTG	0.443																																						ENST00000299481.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2485-2487)gaG>gaT		NLR family, pyrin domain containing 14							162.0	151.0	155.0					11																	7079535		2201	4296	6497	SO:0001583	missense	338323	0	0					g.chr11:7079535G>T	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.2487G>T	chr11.hg19:g.7079535G>T	ENSP00000299481:p.Glu829Asp	0						p.E829D	NM_176822.3	NP_789792.1	1	2	3	1.993097	Q86W24	NAL14_HUMAN		8	2833	+			Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	1	1	hg19	c.2487G>T	CCDS7776.1	1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050293	0.01981	.	.	ENSG00000158077	ENST00000299481	T	0.19806	2.12	4.06	1.68	0.24146	4.06	1.68	0.24146	.	0.403035	0.18198	N	0.148618	T	0.09202	0.0227	N	0.16478	0.41	0.09310	N	1	B	0.31435	0.323	B	0.29176	0.099	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.9839	0.05962	0.6653:0.0:0.1217:0.213	.	829	Q86W24	NAL14_HUMAN	D	829	ENSP00000299481:E829D	ENSP00000299481:E829D	E	+	3	2	2	NLRP14	7036111	7036111	0.000000	0.05858	0.287000	0.24848	0.436000	0.31835	-0.474000	0.06607	0.231000	0.21079	-1.107000	0.02091	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_176822			103	100		438	433	1		1	0		0	0	76	0		1	0	0	1	0	0	0	103	438
RBMXL2	27288	broad.mit.edu	37	11	7110430	7110430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7110430G>A	ENST00000306904.5	+	1	266	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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)		CCTCGAAGCCGAGTTTGGCAA	0.587																																						ENST00000306904.5	1.000000	0.190000	7.500000e-01	3.100000e-01	0.490000	0.533269	0.490000	1.000000																										0				15						c.(79-81)Gag>Aag		RNA binding motif protein, X-linked-like 2							41.0	43.0	42.0					11																	7110430		2201	4296	6497	SO:0001583	missense	27288	2	121412	26				g.chr11:7110430G>A	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.79G>A	chr11.hg19:g.7110430G>A	ENSP00000304139:p.Glu27Lys	0						p.E27K	NM_014469.4	NP_055284.3	1	2	3	1.993097	O75526	RMXL2_HUMAN		1	266	+			Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	0	1	hg19	c.79G>A	CCDS7777.1	0	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174042	0.21704	.	.	ENSG00000170748	ENST00000306904	D	0.85629	-2.01	2.39	1.41	0.22369	2.39	1.41	0.22369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.871484	0.09940	U	0.736117	T	0.69833	0.3155	N	0.11106	0.095	0.09310	N	1	P	0.42973	0.796	B	0.39217	0.294	T	0.61237	-0.7103	10	0.59425	D	0.04	.	6.7648	0.23560	0.1649:0.0:0.8351:0.0	.	27	O75526	HNRGT_HUMAN	K	27	ENSP00000304139:E27K	ENSP00000304139:E27K	E	+	1	0	0	RBMXL2	7067006	7067006	0.420000	0.25457	0.048000	0.18961	0.842000	0.47809	2.859000	0.48364	0.499000	0.27970	0.455000	0.32223	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	0	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-8.014557	1	0.170000	NM_014469			5	5		125	123	0		1			0	0	24	0		9.362284e-01	0	0	0	0	0	0	5	125
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	337	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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)		GACCGCTACTCGAGGGGCCGA	0.662																																						ENST00000306904.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999812	0.990000	1.000000																										0				15						c.(1009-1011)tCg>tTg		RNA binding motif protein, X-linked-like 2							21.0	22.0	22.0					11																	7111361		2200	4295	6495	SO:0001583	missense	27288	1	121364	29				g.chr11:7111361C>T	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.1010C>T	chr11.hg19:g.7111361C>T	ENSP00000304139:p.Ser337Leu	0						p.S337L	NM_014469.4	NP_055284.3	1	2	3	1.993097	O75526	RMXL2_HUMAN		1	1197	+			Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	1	1	hg19	c.1010C>T	CCDS7777.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883498	0.51908	.	.	ENSG00000170748	ENST00000306904	T	0.77489	-1.1	3.73	2.81	0.32909	3.73	2.81	0.32909	.	0.078186	0.53938	U	0.000043	T	0.67515	0.2901	L	0.39147	1.195	0.41031	D	0.985153	D	0.53619	0.961	B	0.40285	0.325	T	0.71364	-0.4615	10	0.62326	D	0.03	.	11.6572	0.51325	0.0:0.8191:0.1809:0.0	.	337	O75526	HNRGT_HUMAN	L	337	ENSP00000304139:S337L	ENSP00000304139:S337L	S	+	2	0	0	RBMXL2	7067937	7067937	0.999000	0.42202	0.896000	0.35187	0.880000	0.50808	4.144000	0.58057	1.129000	0.42072	0.563000	0.77884	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_014469			27	27		157	155	1		1			0	0	34	0		1	0	0	0	0	0	0	27	157
RBMXL2	27288	broad.mit.edu	37	11	7111476	7111476	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	375	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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)		TGCCCAGGGGCGGAGGCCGTC	0.602																																						ENST00000306904.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				15						c.(1123-1125)ggC>ggT		RNA binding motif protein, X-linked-like 2							11.0	13.0	12.0					11																	7111476		2199	4293	6492	SO:0001819	synonymous_variant	27288	0	0					g.chr11:7111476C>T	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.1125C>T	chr11.hg19:g.7111476C>T		0						p.G375G	NM_014469.4	NP_055284.3	1	2	3	1.993097	O75526	RMXL2_HUMAN		1	1312	+			Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	0	1	hg19	c.1125C>T	CCDS7777.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014469			19	19		84	84	1		1			0	0	11	0		9.999954e-01	0	0	0	0	0	0	19	84
SYT9	143425	broad.mit.edu	37	11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	462					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)			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)		AGGCAACGAGGCTGAGAGGCT	0.468																																						ENST00000318881.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1384-1386)Gct>Act		synaptotagmin IX							174.0	149.0	157.0					11																	7441783		2201	4296	6497	SO:0001583	missense	143425	0	0					g.chr11:7441783G>A	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.1384G>A	chr11.hg19:g.7441783G>A	ENSP00000324419:p.Ala462Thr	0						p.A462T	NM_175733.3	NP_783860.1	1	2	3	1.993097	Q86SS6	SYT9_HUMAN		6	1621	+				Missense_Mutation	SNP	ENST00000318881.6	1	1	hg19	c.1384G>A	CCDS7778.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650448	0.87958	.	.	ENSG00000170743	ENST00000318881	T	0.71341	-0.56	5.64	4.72	0.59763	5.64	4.72	0.59763	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000026	T	0.74222	0.3688	L	0.51853	1.615	0.80722	D	1	P	0.45569	0.861	P	0.51701	0.677	T	0.76130	-0.3072	10	0.59425	D	0.04	.	13.7524	0.62915	0.0:0.0:0.845:0.1549	.	462	Q86SS6	SYT9_HUMAN	T	462	ENSP00000324419:A462T	ENSP00000324419:A462T	A	+	1	0	0	SYT9	7398359	7398359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.644000	0.74338	1.361000	0.45981	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_175733			81	79		348	334	1		1			0	0	103	0		1	0	0	0	0	0	0	81	348
PPFIBP2	8495	broad.mit.edu	37	11	7654163	7654163	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000299492.4	+	12	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_ENST00000530181.1_Silent_p.T235T|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.T220T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	378					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)			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)		CACTGGAAACCAGGTAAGAGG	0.562																																						ENST00000299492.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999790	0.990000	1.000000																										0				32						c.(1132-1134)acC>acT		PTPRF interacting protein, binding protein 2 (liprin beta 2)							89.0	75.0	80.0					11																	7654163		2201	4296	6497	SO:0001819	synonymous_variant	8495	0	0					g.chr11:7654163C>T	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.1134C>T	chr11.hg19:g.7654163C>T		0					PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000530181.1_Silent_p.T235T	p.T378T	NM_003621.3	NP_003612	1	2	3	1.993097	Q8ND30	LIPB2_HUMAN		12	1522	+			B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	1	1	hg19	c.1134C>T	CCDS31419.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937398	0.34189	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.35	2.18	0.27775	5.35	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2833	6.8839	0.24189	0.3726:0.466:0.1614:0.0	.	.	.	.	X	58	.	.	Q	+	1	0	0	PPFIBP2	7610739	7610739	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.126000	0.31344	1.231000	0.43661	0.561000	0.74099	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.119455	1	0.170000	NM_003621			23	23		125	122	1		1	1		0	0	32	0		9.999996e-01	9.991640e-01	0	14	0	51	0	23	125
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000299492.4	+	23	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766	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)			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)		CTTCTCAACATCCCCCCACAA	0.552																																						ENST00000299492.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2296-2298)aTc>aCc		PTPRF interacting protein, binding protein 2 (liprin beta 2)							132.0	115.0	121.0					11																	7672936		2201	4296	6497	SO:0001583	missense	8495	0	0					g.chr11:7672936T>C	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.2297T>C	chr11.hg19:g.7672936T>C	ENSP00000299492:p.Ile766Thr	0					PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T	p.I766T	NM_003621.3	NP_003612	1	2	3	1.993097	Q8ND30	LIPB2_HUMAN		23	2685	+			B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	1	1	hg19	c.2297T>C	CCDS31419.1	1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488844	0.84962	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.77	5.77	0.91146	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.93462	3.42	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	0.96012	0.9002	10	0.87932	D	0	-18.7694	14.3292	0.66541	0.0:0.0:0.0:1.0	.	654;654;689;608;623;766	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	766;107;608;689;654;623	ENSP00000299492:I766T;ENSP00000436498:I608T;ENSP00000435469:I654T;ENSP00000437321:I623T	ENSP00000299492:I766T	I	+	2	0	0	PPFIBP2	7629512	7629512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	ATC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.818181	1	0.170000	NM_003621			80	78		308	298	1		1	1		0	0	90	0		1	1	0	40	0	86	0	80	308
OVCH2	341277	broad.mit.edu	37	11	7721940	7721940	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000534193.2	-	0	830				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			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)		TGTTTCTCCAGCCTCGACCAC	0.517																																						ENST00000534193.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.993160	0.990000	1.000000																										0				15								ovochymase 2 (gene/pseudogene)							83.0	80.0	81.0					11																	7721940		1980	4158	6138			341277	0	0					g.chr11:7721940G>T	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		chr11.hg19:g.7721940G>T		0					OVCH2_ENST00000454689.1_RNA				1	2	3	1.993097	Q7RTZ1	OVCH2_HUMAN		0	830	-				RNA	SNP	ENST00000534193.2	1	0	hg19			1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000383929.7	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.999890	1	0.170000	NM_198185			15	15		104	103	1		1			0	0	27	0		9.999025e-01	0	0	0	0	0	0	15	104
OR5P2	120065	broad.mit.edu	37	11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413																																						ENST00000329434.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(136-138)aGa>aTa		olfactory receptor, family 5, subfamily P, member 2							59.0	75.0	70.0					11																	7818353		2102	4292	6394	SO:0001583	missense	120065	0	0					g.chr11:7818353C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.137G>T	chr11.hg19:g.7818353C>A	ENSP00000331823:p.Arg46Ile	0					RP11-35J10.5_ENST00000527565.1_lincRNA	p.R46I	NM_153444.1	NP_703145.1	1	2	3	1.993097	Q8WZ92	OR5P2_HUMAN		1	167	-			Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	1	1	hg19	c.137G>T	CCDS7782.1	1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688518	0.14973	.	.	ENSG00000183303	ENST00000329434	T	0.02863	4.13	5.5	4.59	0.56863	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.157917	0.45361	D	0.000368	T	0.02727	0.0082	L	0.33093	0.98	0.39969	D	0.974769	B	0.23854	0.092	B	0.24269	0.052	T	0.52034	-0.8629	10	0.30854	T	0.27	-18.3288	7.6182	0.28171	0.0:0.749:0.1654:0.0856	.	46	Q8WZ92	OR5P2_HUMAN	I	46	ENSP00000331823:R46I	ENSP00000331823:R46I	R	-	2	0	0	OR5P2	7774929	7774929	0.010000	0.17322	0.986000	0.45419	0.040000	0.13550	0.158000	0.16422	1.564000	0.49628	0.555000	0.69702	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_153444			65	64		227	224	1		1			0	0	56	0		1	0	0	0	0	0	0	65	227
OR5P3	120066	broad.mit.edu	37	11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAACAGAGTGACTGCAGTG	0.507																																						ENST00000328375.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(745-747)Act>Cct		olfactory receptor, family 5, subfamily P, member 3							141.0	122.0	128.0					11																	7846775		2190	4296	6486	SO:0001583	missense	120066	0	0					g.chr11:7846775T>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.745A>C	chr11.hg19:g.7846775T>G	ENSP00000332068:p.Thr249Pro	0					RP11-35J10.5_ENST00000527565.1_lincRNA	p.T249P	NM_153445.1	NP_703146.1	1	2	3	1.993097	Q8WZ94	OR5P3_HUMAN		1	744	-			Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	1	1	hg19	c.745A>C	CCDS7783.1	1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483494	0.63962	.	.	ENSG00000182334	ENST00000328375	T	0.39997	1.05	5.12	5.12	0.69794	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.73148	0.3550	H	0.95224	3.64	0.27285	N	0.958003	D	0.76494	0.999	D	0.77004	0.989	T	0.73059	-0.4102	10	0.72032	D	0.01	-24.1436	12.9161	0.58207	0.0:0.0:0.0:1.0	.	249	Q8WZ94	OR5P3_HUMAN	P	249	ENSP00000332068:T249P	ENSP00000332068:T249P	T	-	1	0	0	OR5P3	7803351	7803351	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.147000	0.66899	0.528000	0.53228	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_153445			65	63		334	319	1		1			0	0	94	0		1	0	0	0	0	0	0	65	334
OR10A6	390093	broad.mit.edu	37	11	7950054	7950054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GGAGGCTCTGGTCTAGGGAGA	0.478																																						ENST00000309838.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(154-156)gaC>gaT		olfactory receptor, family 10, subfamily A, member 6							115.0	109.0	111.0					11																	7950054		2201	4296	6497	SO:0001819	synonymous_variant	390093	0	0					g.chr11:7950054G>A	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.156C>T	chr11.hg19:g.7950054G>A		0						p.D52D	NM_001004461.1	NP_001004461.1	1	2	3	1.993097	Q8NH74	O10A6_HUMAN		1	155	-			Q6IF59	Silent	SNP	ENST00000309838.2	1	1	hg19	c.156C>T	CCDS31420.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_001004461			117	114		528	521	1		1			0	0	147	0		1	0	0	0	0	0	0	117	528
NLRP10	338322	broad.mit.edu	37	11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	639					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)			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)		TTTCCAGTAGAAGCTTCCTTT	0.393																																						ENST00000328600.2	1.000000	0.200000	5.600000e-01	2.900000e-01	0.400000	0.436328	0.400000	0.380000																										0				58						c.(1915-1917)Tct>Cct		NLR family, pyrin domain containing 10							110.0	101.0	104.0					11																	7981244		2201	4296	6497	SO:0001583	missense	338322	0	0					g.chr11:7981244A>G	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.1915T>C	chr11.hg19:g.7981244A>G	ENSP00000327763:p.Ser639Pro	0						p.S639P	NM_176821.3	NP_789791.1	1	2	3	1.993097	Q86W26	NAL10_HUMAN		2	2076	-			Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	1	1	hg19	c.1915T>C	CCDS7784.1	0	.	.	.	.	.	.	.	.	.	.	A	7.079	0.569889	0.13560	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	3.06	-0.651	0.11454	3.06	-0.651	0.11454	.	0.639490	0.12224	N	0.488049	T	0.64125	0.2570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.50215	-0.8854	10	0.41790	T	0.15	.	3.156	0.06504	0.5467:0.2216:0.2317:0.0	.	639	Q86W26	NAL10_HUMAN	P	639	ENSP00000327763:S639P	ENSP00000327763:S639P	S	-	1	0	0	NLRP10	7937820	7937820	0.006000	0.16342	0.000000	0.03702	0.048000	0.14542	0.503000	0.22610	-0.136000	0.11475	0.460000	0.39030	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	0	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-3.811755	1	0.170000	NM_176821			10	10		297	288	0		1			0	0	43	0		9.965199e-01	0	0	0	0	0	0	10	297
NLRP10	338322	broad.mit.edu	37	11	7982118	7982118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	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)			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)		ACGCTTTGTAGAGAATGTCAT	0.512																																						ENST00000328600.2	1.000000	0.450000	8.600000e-01	5.600000e-01	0.690000	0.713389	0.690000	0.680000																										0				58						c.(1039-1041)ctC>ctT		NLR family, pyrin domain containing 10							90.0	81.0	84.0					11																	7982118		2201	4296	6497	SO:0001819	synonymous_variant	338322	0	0					g.chr11:7982118G>A	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.1041C>T	chr11.hg19:g.7982118G>A		0						p.L347L	NM_176821.3	NP_789791.1	1	2	3	1.993097	Q86W26	NAL10_HUMAN		2	1202	-			Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	1	1	hg19	c.1041C>T	CCDS7784.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.017715	1	0.170000	NM_176821			24	24		389	380	0		1			0	0	90	0		9.999996e-01	0	0	0	0	0	0	24	389
TUB	7275	broad.mit.edu	37	11	8117116	8117116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8117116G>A	ENST00000299506.2	+	5	618	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	TUB_ENST00000305253.4_Missense_Mutation_p.G212S|TUB_ENST00000534099.1_Missense_Mutation_p.G163S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	157					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCTGACTGTGGGCCAGTCAGA	0.662																																						ENST00000299506.2	1.000000	0.140000	5.900000e-01	2.400000e-01	0.380000	0.423250	0.380000	0.340000																										0				26						c.(469-471)Ggc>Agc		tubby bipartite transcription factor							28.0	30.0	30.0					11																	8117116		2201	4293	6494	SO:0001583	missense	7275	0	0					g.chr11:8117116G>A	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	ENST00000299506.2:c.469G>A	chr11.hg19:g.8117116G>A	ENSP00000299506:p.Gly157Ser	0					TUB_ENST00000305253.4_Missense_Mutation_p.G212S|TUB_ENST00000534099.1_Missense_Mutation_p.G163S	p.G157S	NM_177972.2	NP_813977.1	1	2	3	1.993097	P50607	TUB_HUMAN		5	618	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	0	1	hg19	c.469G>A	CCDS7787.1	0	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149877	0.78001	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.0;-2.06;-2.0	5.38	5.38	0.77491	5.38	5.38	0.77491	Tubby, N-terminal (1);	0.048878	0.85682	D	0.000000	D	0.87313	0.6146	L	0.28192	0.835	0.80722	D	1	D;P;D	0.89917	0.999;0.866;1.0	D;B;D	0.77004	0.922;0.252;0.989	D	0.85000	0.0899	10	0.24483	T	0.36	0.051	17.8888	0.88865	0.0:0.0:1.0:0.0	.	163;157;212	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	163;212;157	ENSP00000434400:G163S;ENSP00000305426:G212S;ENSP00000299506:G157S	ENSP00000299506:G157S	G	+	1	0	0	TUB	8073692	8073692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.962000	0.87912	2.531000	0.85337	0.561000	0.74099	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-7.369501	1	0.170000	NM_003320			5	5		165	162	0		1	0		0	0	30	0		9.355294e-01	1.286619e-02	0	0	0	5	0	5	165
TUB	7275	broad.mit.edu	37	11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000299506.2	+	6	742	c.593A>C	c.(592-594)gAg>gCg	p.E198A	TUB_ENST00000305253.4_Missense_Mutation_p.E253A|TUB_ENST00000534099.1_Missense_Mutation_p.E204A	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	198	Asp/Glu-rich.				multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542																																						ENST00000299506.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(592-594)gAg>gCg		tubby bipartite transcription factor							86.0	78.0	81.0					11																	8118259		2201	4296	6497	SO:0001583	missense	7275	0	0					g.chr11:8118259A>C	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	ENST00000299506.2:c.593A>C	chr11.hg19:g.8118259A>C	ENSP00000299506:p.Glu198Ala	0					TUB_ENST00000305253.4_Missense_Mutation_p.E253A|TUB_ENST00000534099.1_Missense_Mutation_p.E204A	p.E198A	NM_177972.2	NP_813977.1	1	2	3	1.993097	P50607	TUB_HUMAN		6	742	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	1	1	hg19	c.593A>C	CCDS7787.1	1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980035	0.53827	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.15;-2.17;-2.14	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.098549	0.64402	D	0.000002	D	0.84759	0.5543	L	0.59436	1.845	0.80722	D	1	P;P;P	0.42941	0.74;0.524;0.794	B;B;B	0.39805	0.214;0.095;0.31	D	0.84937	0.0863	10	0.39692	T	0.17	-6.0846	14.5629	0.68153	1.0:0.0:0.0:0.0	.	204;198;253	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	A	204;253;198	ENSP00000434400:E204A;ENSP00000305426:E253A;ENSP00000299506:E198A	ENSP00000299506:E198A	E	+	2	0	0	TUB	8074835	8074835	1.000000	0.71417	0.987000	0.45799	0.671000	0.39405	8.654000	0.91092	1.906000	0.55180	0.402000	0.26972	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_003320			60	59		275	269	1		1	0		0	0	58	0		1	4.385030e-01	0	0	0	8	0	60	275
RIC3	79608	broad.mit.edu	37	11	8159877	8159877	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8159877T>C	ENST00000309737.6	-	3	368	c.369A>G	c.(367-369)acA>acG	p.T123T	RIC3_ENST00000343202.4_Silent_p.T123T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T74T|RIC3_ENST00000425599.2_Silent_p.T123T			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	123					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTGCAGTTGTTTTCCCCT	0.433																																						ENST00000309737.6	1.000000	0.100000	2.400000e-01	1.300000e-01	0.170000	0.216651	0.170000	0.180000																										0				17						c.(367-369)acA>acG		RIC3 acetylcholine receptor chaperone							237.0	228.0	231.0					11																	8159877		2201	4296	6497	SO:0001819	synonymous_variant	79608	0	0					g.chr11:8159877T>C		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.369A>G	chr11.hg19:g.8159877T>C		0					RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Silent_p.T123T|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.T74T	p.T123T			1	2	3	1.993097	Q7Z5B4	RIC3_HUMAN		3	368	-			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	0	1	hg19	c.369A>G	CCDS55742.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	0	0	0		2	2	2	0		0	0	189		189	186	1	2.060000	-9.678929	1	0.170000	NM_024557			15	14		996	968	0		1	0		0	0	189	0		9.998366e-01	2.555412e-03	0	0	0	5	0	15	996
LMO1	4004	broad.mit.edu	37	11	8248572	8248572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000428101.2_Silent_p.R104R|LMO1_ENST00000534484.1_Silent_p.R94R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																ENST00000335790.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000			yes	Dom	yes		yes	Dom	yes		11	11p15	11p15	4004	T, A	LIM domain only 1 (rhombotin 1) (RBTN1)				L	L	TRD@	neuroblastoma	T-ALL, neuroblastoma		0				5						c.(313-315)cgG>cgA		LIM domain only 1 (rhombotin 1)							54.0	62.0	59.0					11																	8248572		2110	4234	6344	SO:0001819	synonymous_variant	4004	0	0					g.chr11:8248572C>T	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.315G>A	chr11.hg19:g.8248572C>T		0					LMO1_ENST00000534484.1_Silent_p.R94R|LMO1_ENST00000428101.2_Silent_p.R104R	p.R105R	NM_002315.2	NP_002306.1	1	2	3	1.993097	P25800	RBTN1_HUMAN		3	810	-			E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	1	1	hg19	c.315G>A	CCDS44534.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_002315			32	32		172	166	1		1	0		0	0	30	0		1	7.008123e-02	0	0	0	3	0	32	172
STK33	65975	broad.mit.edu	37	11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000534493.1_Missense_Mutation_p.K420T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	461					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393																																						ENST00000447869.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1381-1383)aAg>aCg		serine/threonine kinase 33							119.0	110.0	113.0					11																	8414220		2201	4296	6497	SO:0001583	missense	65975	0	0					g.chr11:8414220T>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1382A>C	chr11.hg19:g.8414220T>G	ENSP00000416750:p.Lys461Thr	0					STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T	p.K461T			1	2	3	1.993097	Q9BYT3	STK33_HUMAN		12	2300	-			Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	1	1	hg19	c.1382A>C	CCDS7789.1	1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357246	0.61293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71817	-0.55;-0.55;-0.55;-0.6;2.02;2.02;-0.54	5.8	2.13	0.27403	5.8	2.13	0.27403	.	0.169760	0.33572	N	0.004776	T	0.48003	0.1476	N	0.22421	0.69	0.22354	N	0.99918	P	0.43477	0.808	B	0.39706	0.307	T	0.33574	-0.9863	10	0.16896	T	0.51	.	5.0636	0.14570	0.3919:0.0:0.1627:0.4453	.	461	Q9BYT3	STK33_HUMAN	T	461;461;461;274;395;150;420	ENSP00000416750:K461T;ENSP00000320754:K461T;ENSP00000379905:K461T;ENSP00000351743:K274T;ENSP00000379906:K395T;ENSP00000415688:K150T;ENSP00000436418:K420T	ENSP00000320754:K461T	K	-	2	0	0	STK33	8370796	8370796	0.665000	0.27466	0.997000	0.53966	0.263000	0.26337	0.601000	0.24119	0.986000	0.38683	0.533000	0.62120	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_030906			93	91		317	310	1		1	1		0	0	90	0		1	3.214077e-01	0	2	0	3	0	93	317
ST5	6764	broad.mit.edu	37	11	8717975	8717975	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N	ST5_ENST00000357665.1_Splice_Site_p.K1097N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Splice_Site_p.K610N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|ST5_ENST00000526757.1_Splice_Site_p.K677N|ST5_ENST00000534278.1_Splice_Site_p.K288N|ST5_ENST00000530438.1_Splice_Site_p.K677N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1097					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488																																						ENST00000534127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3289-3291)aaG>aaT		suppression of tumorigenicity 5							204.0	219.0	214.0					11																	8717975		2201	4296	6497	SO:0001630	splice_region_variant	6764	0	0					g.chr11:8717975C>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3292+1G>T	chr11.hg19:g.8717975C>A		0					ST5_ENST00000526757.1_Splice_Site_p.K677N|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|ST5_ENST00000357665.1_Splice_Site_p.K1097N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Splice_Site_p.K677N|ST5_ENST00000534278.1_Splice_Site_p.K288N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Splice_Site_p.K610N	p.K1097N	NM_005418.3	NP_005409.3	1	2	3	1.993097	P78524	ST5_HUMAN		21	3676	-			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Splice_Site	SNP	ENST00000534127.1	1	0	hg19	c.3291G>T	CCDS7791.1	1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042502	0.55003	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.14640	3.0;3.3;3.3;3.01;3.3;3.0;2.49;3.0	5.87	4.01	0.46588	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.52573	1.65	0.58432	D	0.999999	D;B;P	0.69078	0.997;0.389;0.63	D;B;B	0.64687	0.928;0.274;0.358	T	0.01059	-1.1465	10	0.87932	D	0	-16.4162	7.2537	0.26164	0.0:0.6408:0.0:0.3592	.	610;677;1097	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	677;1097;1097;569;1097;610;288;677	ENSP00000435097:K677N;ENSP00000433528:K1097N;ENSP00000319678:K1097N;ENSP00000432887:K569N;ENSP00000350294:K1097N;ENSP00000436808:K610N;ENSP00000433349:K288N;ENSP00000436802:K677N	ENSP00000319678:K1097N	K	-	3	2	2	ST5	8674551	8674551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.892000	0.39748	0.841000	0.35020	-0.140000	0.14226	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1		2	2	2	0		0	0	330		330	327	1	2.060000	-20.000000	1	0.170000	NM_005418	Missense_Mutation		281	276		1313	1294	1		1	1		0	0	330	0		1	1	0	18	0	157	0	281	1313
ST5	6764	broad.mit.edu	37	11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000534127.1	-	12	2430	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_ENST00000357665.1_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R195H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	682					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602																																						ENST00000534127.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.990882	0.990000	1.000000																										0				39						c.(2044-2046)cGc>cAc		suppression of tumorigenicity 5							45.0	39.0	41.0					11																	8734225		2200	4296	6496	SO:0001583	missense	6764	1	121378	22				g.chr11:8734225C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2045G>A	chr11.hg19:g.8734225C>T	ENSP00000433528:p.Arg682His	0					ST5_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000526099.1_Missense_Mutation_p.R195H	p.R682H	NM_005418.3	NP_005409.3	1	2	3	1.993097	P78524	ST5_HUMAN		12	2430	-			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	0	1	hg19	c.2045G>A	CCDS7791.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597627	0.66332	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.34072	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;1.38;2.91	5.28	4.36	0.52297	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.36672	1.1	0.53688	D	0.999971	B;B;B	0.23442	0.012;0.085;0.069	B;B;B	0.17979	0.005;0.02;0.016	T	0.09465	-1.0673	10	0.54805	T	0.06	-12.5329	10.5888	0.45298	0.0:0.8518:0.0:0.1482	.	195;262;682	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	262;682;682;154;682;195;262;154;292;139;154	ENSP00000435097:R262H;ENSP00000433528:R682H;ENSP00000319678:R682H;ENSP00000432887:R154H;ENSP00000350294:R682H;ENSP00000436808:R195H;ENSP00000436802:R262H;ENSP00000433588:R154H;ENSP00000437096:R139H;ENSP00000431580:R154H	ENSP00000319678:R682H	R	-	2	0	0	ST5	8690801	8690801	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.689000	0.61723	2.467000	0.83353	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	0		2	2	2	0		0	0	18		18	16	1	2.060000	-18.994340	1	0.170000	NM_005418			11	11		71	66	0		1	1		0	0	18	0		9.981794e-01	9.999701e-01	0	4	0	142	0	11	71
ST5	6764	broad.mit.edu	37	11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000534127.1	-	9	2165	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	594					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657																																						ENST00000534127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1780-1782)Aat>Gat		suppression of tumorigenicity 5							69.0	65.0	67.0					11																	8737215		2201	4296	6497	SO:0001583	missense	6764	0	0					g.chr11:8737215T>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1780A>G	chr11.hg19:g.8737215T>C	ENSP00000433528:p.Asn594Asp	0					ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D	p.N594D	NM_005418.3	NP_005409.3	1	2	3	1.993097	P78524	ST5_HUMAN		9	2165	-			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	1	1	hg19	c.1780A>G	CCDS7791.1	1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993474	0.54041	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.54	3.07	0.35406	5.54	3.07	0.35406	.	0.278897	0.37136	N	0.002223	T	0.10895	0.0266	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41748	0.411;0.551;0.761	B;B;B	0.40565	0.145;0.333;0.247	T	0.09907	-1.0653	10	0.33940	T	0.23	-9.1996	12.045	0.53475	0.0:0.0:0.2738:0.7262	.	107;174;594	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	174;594;594;66;594;107;174;66;204;66;66;83	ENSP00000435097:N174D;ENSP00000433528:N594D;ENSP00000319678:N594D;ENSP00000432887:N66D;ENSP00000350294:N594D;ENSP00000436808:N107D;ENSP00000436802:N174D;ENSP00000433588:N66D;ENSP00000437096:N66D;ENSP00000431580:N66D;ENSP00000433858:N83D	ENSP00000319678:N594D	N	-	1	0	0	ST5	8693791	8693791	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	1.873000	0.39558	0.330000	0.23485	0.533000	0.62120	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_005418			103	102		427	410	1		1	1		0	0	85	0		1	9.999997e-01	0	7	0	84	0	103	427
ST5	6764	broad.mit.edu	37	11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	457					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458																																						ENST00000534127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1369-1371)aGt>aAt		suppression of tumorigenicity 5							136.0	125.0	129.0					11																	8747727		2201	4296	6497	SO:0001583	missense	6764	0	0					g.chr11:8747727C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1370G>A	chr11.hg19:g.8747727C>T	ENSP00000433528:p.Ser457Asn	0					ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N	p.S457N	NM_005418.3	NP_005409.3	1	2	3	1.993097	P78524	ST5_HUMAN		7	1755	-			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	1	1	hg19	c.1370G>A	CCDS7791.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640994	0.87859	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126	T;T;T;T;T	0.08634	3.07;3.41;3.41;3.41;3.07	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.169793	0.64402	D	0.000004	T	0.19765	0.0475	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.915	P;B	0.54889	0.763;0.397	T	0.00019	-1.2358	10	0.45353	T	0.12	-10.4636	20.3207	0.98668	0.0:1.0:0.0:0.0	.	37;457	P78524-2;P78524	.;ST5_HUMAN	N	37;457;457;457;37;67;37;37;37;37;37;37	ENSP00000435097:S37N;ENSP00000433528:S457N;ENSP00000319678:S457N;ENSP00000350294:S457N;ENSP00000436802:S37N	ENSP00000319678:S457N	S	-	2	0	0	ST5	8704303	8704303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_005418			76	75		301	291	1		1	1		0	0	74	0		1	9.999999e-01	0	4	0	91	0	76	301
C11orf16	56673	broad.mit.edu	37	11	8950933	8950933	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	105										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)		CCTCGGGAGTGGCCTTTATTT	0.572																																						ENST00000326053.5	1.000000	0.780000	1	9.700000e-01	0.990000	0.980128	0.990000	1.000000																										0				22						c.(313-315)gcC>gcA		chromosome 11 open reading frame 16							109.0	103.0	105.0					11																	8950933		2201	4296	6497	SO:0001819	synonymous_variant	56673	0	0					g.chr11:8950933G>T	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.315C>A	chr11.hg19:g.8950933G>T		0					C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	p.A105A	NM_020643.2	NP_065694.2	1	2	3	1.993097	Q9NQ32	CK016_HUMAN		3	421	-			Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	1	1	hg19	c.315C>A	CCDS7794.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-10.321270	1	0.170000	NM_020643			24	23		216	213	1		1			0	0	48	0		9.999997e-01	0	0	0	0	0	0	24	216
NRIP3	56675	broad.mit.edu	37	11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	81							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493																																						ENST00000309166.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(241-243)Cgt>Tgt		nuclear receptor interacting protein 3							148.0	137.0	141.0					11																	9009763		2201	4296	6497	SO:0001583	missense	56675	0	0					g.chr11:9009763G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.241C>T	chr11.hg19:g.9009763G>A	ENSP00000310205:p.Arg81Cys	0					NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	p.R81C	NM_020645.2	NP_065696.1	1	2	3	1.993097	Q9NQ35	NRIP3_HUMAN		2	354	-			Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	1	1	hg19	c.241C>T	CCDS31422.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644065	0.87859	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.48201	0.82	6.06	5.14	0.70334	6.06	5.14	0.70334	.	0.114972	0.64402	D	0.000015	T	0.58250	0.2109	L	0.51422	1.61	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.62651	-0.6809	10	0.72032	D	0.01	-34.6088	16.3598	0.83257	0.0:0.1324:0.8676:0.0	.	81	Q9NQ35	NRIP3_HUMAN	C	81;81;74	ENSP00000310205:R81C	ENSP00000310205:R81C	R	-	1	0	0	NRIP3	8966339	8966339	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	4.651000	0.61447	1.555000	0.49500	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	0	0	1		21	2	2	1		1	1	114		114	114	1	2.060000	-2.412229	0	0.170000	NM_020645			134	133		584	575	1		1	0		1	0	114	0		1	3.876731e-01	0	0	0	7	0	134	584
DENND5A	23258	broad.mit.edu	37	11	9164309	9164309	+	Silent	SNP	C	C	T	rs145302750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000328194.3	-	21	3791	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000530044.1_Silent_p.S1157S|DENND5A_ENST00000527700.1_Silent_p.S500S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1157	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.0					ENST00000328194.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3469-3471)tcG>tcA		DENN/MADD domain containing 5A		C		0,4402		0,0,2201	113.0	125.0	121.0		3471	-11.5	0.7	11	dbSNP_134	121	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	DENND5A	NM_015213.3		0,4,6493	TT,TC,CC		0.0466,0.0,0.0308		1157/1288	9164309	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	23258	35	121412	51				g.chr11:9164309C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3471G>A	chr11.hg19:g.9164309C>T		0					DENND5A_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000530044.1_Silent_p.S1157S	p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	1	2	3	1.993097	Q6IQ26	DEN5A_HUMAN		21	3791	-			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	1	1	hg19	c.3471G>A	CCDS31423.1	1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102341	0.20632	0.0	4.66E-4	ENSG00000184014	ENST00000528725;ENST00000533737	.	.	.	5.8	-11.5	0.00074	5.8	-11.5	0.00074	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	.	4.4113	0.11434	0.1371:0.3831:0.2786:0.2013	.	.	.	.	H	56;45	.	.	R	-	2	0	0	DENND5A	9120885	9120885	0.000000	0.05858	0.748000	0.31131	0.996000	0.88848	-2.145000	0.01295	-1.597000	0.01609	-0.238000	0.12139	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1		2	2	2	0		0	0	203		203	202	1	2.060000	-20.000000	1	0.170000	NM_015213			162	159		741	729	1		1	1		0	0	203	0		1	1	0	7	0	107	0	162	741
DENND5A	23258	broad.mit.edu	37	11	9166622	9166622	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000328194.3	-	18	3362	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000530044.1_Silent_p.G1014G|DENND5A_ENST00000527700.1_Silent_p.G357G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1014	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448																																						ENST00000328194.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3040-3042)ggC>ggA		DENN/MADD domain containing 5A							155.0	131.0	139.0					11																	9166622		2201	4296	6497	SO:0001819	synonymous_variant	23258	0	0					g.chr11:9166622G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3042C>A	chr11.hg19:g.9166622G>T		0					DENND5A_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000530044.1_Silent_p.G1014G	p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	1	2	3	1.993097	Q6IQ26	DEN5A_HUMAN		18	3362	-			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	1	1	hg19	c.3042C>A	CCDS31423.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.933|9.933	1.215366|1.215366	0.22373|0.22373	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.65|5.65	4.69|4.69	0.59074|0.59074	5.65|5.65	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54873|0.54873	-0.8228|-0.8228	4|4	.|.	.|.	.|.	-13.9587|-13.9587	8.5325|8.5325	0.33344|0.33344	0.0:0.1334:0.6002:0.2664|0.0:0.1334:0.6002:0.2664	.|.	.|.	.|.	.|.	D|T	62|185	.|.	.|.	A|P	-|-	2|1	0|0	0|0	DENND5A|DENND5A	9123198|9123198	9123198|9123198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.546000|1.546000	0.36179|0.36179	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GCC|CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_015213			85	85		467	461	1		1	1		0	0	104	0		1	9.999978e-01	0	6	0	97	0	85	467
DENND5A	23258	broad.mit.edu	37	11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000328194.3	-	14	2866	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M|DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	849	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433																																						ENST00000328194.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				39						c.(2545-2547)aGg>aTg		DENN/MADD domain containing 5A							142.0	126.0	132.0					11																	9172287		2201	4296	6497	SO:0001583	missense	23258	0	0					g.chr11:9172287C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2546G>T	chr11.hg19:g.9172287C>A	ENSP00000328524:p.Arg849Met	0					DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M	p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	1	2	3	1.993097	Q6IQ26	DEN5A_HUMAN		14	2866	-			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	1	1	hg19	c.2546G>T	CCDS31423.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.494366|9.494366	0.99187|0.99187	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77253|.	0.4103|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.70227|.	0.928;0.968|.	T|.	0.76206|.	-0.3044|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;849|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	M|Y	849;849;192|19	ENSP00000328524:R849M;ENSP00000435866:R849M;ENSP00000432549:R192M|.	ENSP00000328524:R849M|.	R|X	-|-	2|3	0|2	0|2	DENND5A|DENND5A	9128863|9128863	9128863|9128863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.794000|7.794000	0.85869|0.85869	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	AGG|TAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.894667	1	0.170000	NM_015213			39	39		194	191	1		1	0		0	0	71	0		1	9.999615e-01	0	0	0	80	0	39	194
DENND5A	23258	broad.mit.edu	37	11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000328194.3	-	7	1936	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	539	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433																																						ENST00000328194.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1615-1617)aGc>aTc		DENN/MADD domain containing 5A							152.0	133.0	140.0					11																	9200460		2201	4296	6497	SO:0001583	missense	23258	0	0					g.chr11:9200460C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1616G>T	chr11.hg19:g.9200460C>A	ENSP00000328524:p.Ser539Ile	0					DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I	p.S539I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	1	2	3	1.993097	Q6IQ26	DEN5A_HUMAN		7	1936	-			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	1	1	hg19	c.1616G>T	CCDS31423.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687429	0.68157	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.47177	0.85;0.85	5.06	5.06	0.68205	5.06	5.06	0.68205	dDENN (3);	0.043766	0.85682	D	0.000000	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	P;P	0.49447	0.91;0.924	P;P	0.60473	0.752;0.875	T	0.58538	-0.7619	10	0.54805	T	0.06	.	18.7769	0.91915	0.0:1.0:0.0:0.0	.	539;539	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	539	ENSP00000328524:S539I;ENSP00000435866:S539I	ENSP00000328524:S539I	S	-	2	0	0	DENND5A	9157036	9157036	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.168000	0.50801	2.498000	0.84270	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_015213			109	108		453	448	1		1	1		0	0	91	0		1	9.998716e-01	0	4	0	52	0	109	453
TMEM41B	440026	broad.mit.edu	37	11	9335893	9335893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000533723.1_Silent_p.A32A|TMEM41B_ENST00000527813.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	32					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				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)		TGCTGCCAGGCGCCGCGAGAC	0.711																																						ENST00000528080.1	1.000000	0.460000	1	7.200000e-01	0.990000	0.898608	0.990000	1.000000																										0				7						c.(94-96)gcG>gcA		transmembrane protein 41B							11.0	11.0	11.0					11																	9335893		2189	4265	6454	SO:0001819	synonymous_variant	440026	0	0					g.chr11:9335893C>T	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.96G>A	chr11.hg19:g.9335893C>T		0					TMEM41B_ENST00000533723.1_Silent_p.A32A|TMEM41B_ENST00000527813.1_Silent_p.A32A	p.A32A	NM_015012.3	NP_055827.1	1	2	3	1.993097	Q5BJD5	TM41B_HUMAN		1	434	-			D3DQU9|E9PP29|Q15055|Q4G0P0	Silent	SNP	ENST00000528080.1	0	1	hg19	c.96G>A	CCDS31424.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-12.009950	1	0.170000				6	6		62	62	0		1	1		0	0	14	0		9.673002e-01	7.995164e-01	0	3	0	30	0	6	62
SWAP70	23075	broad.mit.edu	37	11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	148					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303																																						ENST00000318950.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(442-444)Gaa>Aaa		SWAP switching B-cell complex 70kDa subunit							62.0	61.0	61.0					11																	9746232		2201	4294	6495	SO:0001583	missense	23075	0	0					g.chr11:9746232G>A	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.442G>A	chr11.hg19:g.9746232G>A	ENSP00000315630:p.Glu148Lys	0					SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	p.E148K	NM_015055.2	NP_055870.2	1	2	3	1.993097	Q9UH65	SWP70_HUMAN		4	545	+			D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	1	1	hg19	c.442G>A	CCDS31426.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702741	0.68501	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.164685	0.64402	D	0.000018	T	0.18341	0.0440	L	0.54323	1.7	0.58432	D	0.999998	P;P;D	0.58268	0.956;0.546;0.982	P;B;P	0.47603	0.453;0.073;0.551	T	0.01124	-1.1444	10	0.28530	T	0.3	-16.6408	19.4051	0.94644	0.0:0.0:1.0:0.0	.	90;148;90	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	90;148	ENSP00000399056:E90K;ENSP00000315630:E148K	ENSP00000315630:E148K	E	+	1	0	0	SWAP70	9702808	9702808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.823000	0.99369	2.586000	0.87340	0.467000	0.42956	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_015055			41	41		205	202	1		1	1		0	0	60	0		1	9.999998e-01	0	13	0	109	0	41	205
SWAP70	23075	broad.mit.edu	37	11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	399					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493																																						ENST00000318950.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1195-1197)caG>caT		SWAP switching B-cell complex 70kDa subunit							73.0	69.0	70.0					11																	9761736		2201	4294	6495	SO:0001583	missense	23075	0	0					g.chr11:9761736G>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1197G>T	chr11.hg19:g.9761736G>T	ENSP00000315630:p.Gln399His	0					SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	p.Q399H	NM_015055.2	NP_055870.2	1	2	3	1.993097	Q9UH65	SWP70_HUMAN		9	1300	+			D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	1	1	hg19	c.1197G>T	CCDS31426.1	1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494561	0.64186	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.20200	2.09;2.09	5.25	4.28	0.50868	5.25	4.28	0.50868	.	0.189996	0.48286	D	0.000184	T	0.15825	0.0381	N	0.24115	0.695	0.51482	D	0.99992	P;P;P	0.50943	0.94;0.612;0.641	P;B;B	0.44732	0.459;0.172;0.259	T	0.01007	-1.1483	10	0.46703	T	0.11	-16.3576	9.916	0.41434	0.074:0.0:0.7874:0.1386	.	341;399;341	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	341;399	ENSP00000399056:Q341H;ENSP00000315630:Q399H	ENSP00000315630:Q399H	Q	+	3	2	2	SWAP70	9718312	9718312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.051000	0.49885	2.445000	0.82738	0.591000	0.81541	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_015055			39	39		163	157	1		1	1		0	0	42	0		1	1	0	36	0	160	0	39	163
SBF2	81846	broad.mit.edu	37	11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	866					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)			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)		CTGAATAGGCGGAAGTCTTCT	0.418																																						ENST00000256190.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2596-2598)cCg>cTg		SET binding factor 2		G	LEU/PRO	0,4402		0,0,2201	198.0	169.0	179.0		2597	5.1	1.0	11	dbSNP_134	179	1,8587	1.2+/-3.3	0,1,4293	no	missense	SBF2	NM_030962.3	98	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	866/1850	9874236	1,12989	2201	4294	6495	SO:0001583	missense	81846	2	121412	38				g.chr11:9874236G>A	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.2597C>T	chr11.hg19:g.9874236G>A	ENSP00000256190:p.Pro866Leu	0					RP11-1H15.2_ENST00000533659.1_RNA	p.P866L	NM_030962.3	NP_112224.1	1	2	3	1.993097	Q86WG5	MTMRD_HUMAN		21	2734	-			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	1	1	hg19	c.2597C>T	CCDS31427.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604129	0.87157	0.0	1.16E-4	ENSG00000133812	ENST00000256190	D	0.89552	-2.53	6.03	5.12	0.69794	6.03	5.12	0.69794	.	0.046259	0.85682	D	0.000000	D	0.92996	0.7771	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93548	0.6884	10	0.66056	D	0.02	.	15.3416	0.74303	0.0665:0.0:0.9335:0.0	.	866	Q86WG5	MTMRD_HUMAN	L	866	ENSP00000256190:P866L	ENSP00000256190:P866L	P	-	2	0	0	SBF2	9830812	9830812	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	1.569000	0.49696	0.655000	0.94253	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-2.702259	1	0.170000	NM_030962			123	120		515	504	1		1	1		0	0	127	0		1	9.996646e-01	0	3	0	48	0	123	515
BTBD10	84280	broad.mit.edu	37	11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000278174.5	-	5	921	c.676C>T	c.(676-678)Cga>Tga	p.R226*	BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	226	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418																																						ENST00000278174.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(676-678)Cga>Tga		BTB (POZ) domain containing 10							235.0	208.0	217.0					11																	13438716		2200	4294	6494	SO:0001587	stop_gained	84280	0	0					g.chr11:13438716G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.676C>T	chr11.hg19:g.13438716G>A	ENSP00000278174:p.Arg226*	0					BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*	p.R226*	NM_032320.5	NP_115696.2	1	2	3	1.993097	Q9BSF8	BTBDA_HUMAN		5	921	-			B7Z228|Q86WG1	Nonsense_Mutation	SNP	ENST00000278174.5	0	1	hg19	c.676C>T	CCDS7811.1	1	.	.	.	.	.	.	.	.	.	.	G	40	7.961995	0.98583	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.662	19.8331	0.96643	0.0:0.0:1.0:0.0	.	.	.	.	X	226;234;178	.	ENSP00000278174:R226X	R	-	1	2	2	BTBD10	13395292	13395292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.779000	0.95612	0.650000	0.86243	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	1	0	1		2	2	2	0		0	0	153		153	151	1	2.060000	-3.475413	1	0.170000	NM_032320			132	125		557	550	1		1	1		0	0	153	0		1	1	0	6	0	134	0	132	557
FAR1	84188	broad.mit.edu	37	11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000354817.3	+	10	1347	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	FAR1_ENST00000532502.1_Missense_Mutation_p.W25C	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	401					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303																																						ENST00000354817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1201-1203)tgG>tgT		fatty acyl CoA reductase 1							80.0	79.0	79.0					11																	13743352		2197	4291	6488	SO:0001583	missense	84188	0	0					g.chr11:13743352G>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1203G>T	chr11.hg19:g.13743352G>T	ENSP00000346874:p.Trp401Cys	0					FAR1_ENST00000532502.1_Missense_Mutation_p.W25C	p.W401C	NM_032228.5	NP_115604.1	1	2	3	1.993097	Q8WVX9	FACR1_HUMAN		10	1347	+			D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	1	1	hg19	c.1203G>T	CCDS7813.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422520	0.83559	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.21932	1.98	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.87932	D	0	-3.4024	19.5966	0.95541	0.0:0.0:1.0:0.0	.	401	Q8WVX9	FACR1_HUMAN	C	401;25	ENSP00000346874:W401C	ENSP00000346874:W401C	W	+	3	0	0	FAR1	13699928	13699928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	TGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.998970	1	0.170000	NM_032228			33	33		115	114	1		1	1		0	0	37	0		1	9.999999e-01	0	22	0	76	0	33	115
COPB1	1315	broad.mit.edu	37	11	14502316	14502316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14502316C>T	ENST00000249923.3	-	10	1501	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	COPB1_ENST00000439561.2_Missense_Mutation_p.V401I|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	401					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)			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						ACAGGAATAACATTTGCAGCC	0.323																																						ENST00000249923.3	1.000000	0.250000	5.400000e-01	3.200000e-01	0.410000	0.446349	0.410000	0.410000																										0				36						c.(1201-1203)Gtt>Att		coatomer protein complex, subunit beta 1							125.0	115.0	119.0					11																	14502316		2200	4294	6494	SO:0001583	missense	1315	0	0					g.chr11:14502316C>T	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.1201G>A	chr11.hg19:g.14502316C>T	ENSP00000249923:p.Val401Ile	0					COPB1_ENST00000439561.2_Missense_Mutation_p.V401I|RNU7-49P_ENST00000516182.1_RNA	p.V401I	NM_016451.4	NP_057535.1	1	2	3	1.993097	P53618	COPB_HUMAN		10	1501	-			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	1	1	hg19	c.1201G>A	CCDS7815.1	0	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265476	0.59431	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27402	1.67;1.67;1.67	5.22	5.22	0.72569	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.33137	0.985	0.80722	D	1	B	0.24368	0.102	B	0.37508	0.252	T	0.12837	-1.0532	10	0.39692	T	0.17	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	401	P53618	COPB_HUMAN	I	401	ENSP00000249923:V401I;ENSP00000397873:V401I;ENSP00000436383:V401I	ENSP00000249923:V401I	V	-	1	0	0	COPB1	14458892	14458892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.086000	0.71352	2.426000	0.82243	0.655000	0.94253	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.957788	1	0.170000	NM_016451			18	17		504	495	0		1	1		0	0	82	0		9.999791e-01	9.997272e-01	0	31	0	344	0	18	504
COPB1	1315	broad.mit.edu	37	11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	316					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)			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						TGTAGTACTCGTTCATGAGCA	0.333																																						ENST00000249923.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				36						c.(946-948)Cga>Tga		coatomer protein complex, subunit beta 1							80.0	76.0	77.0					11																	14504589		2199	4294	6493	SO:0001587	stop_gained	1315	0	0					g.chr11:14504589G>A	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.946C>T	chr11.hg19:g.14504589G>A	ENSP00000249923:p.Arg316*	0					COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	p.R316*	NM_016451.4	NP_057535.1	1	2	3	1.993097	P53618	COPB_HUMAN		8	1246	-			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	0	1	hg19	c.946C>T	CCDS7815.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.098576	0.98063	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.56	2.38	0.29361	5.56	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3051	0.66380	0.0:0.0:0.5008:0.4992	.	.	.	.	X	316	.	ENSP00000249923:R316X	R	-	1	2	2	COPB1	14461165	14461165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.868000	0.56055	0.649000	0.30751	0.591000	0.81541	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_016451			31	31		168	166	1		1	1		0	0	37	0		1	1	0	3	0	347	0	31	168
COPB1	1315	broad.mit.edu	37	11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	219					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)			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						AATGTCTCCAAATGTTTGAAC	0.313																																						ENST00000249923.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				36						c.(655-657)tTt>tCt		coatomer protein complex, subunit beta 1							67.0	66.0	67.0					11																	14510081		2200	4285	6485	SO:0001583	missense	1315	0	0					g.chr11:14510081A>G	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.656T>C	chr11.hg19:g.14510081A>G	ENSP00000249923:p.Phe219Ser	0					COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	p.F219S	NM_016451.4	NP_057535.1	1	2	3	1.993097	P53618	COPB_HUMAN		6	956	-			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	1	1	hg19	c.656T>C	CCDS7815.1	1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532635	0.85812	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24350	1.86;1.86;1.86	4.9	4.9	0.64082	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60198	-0.7310	10	0.38643	T	0.18	.	14.817	0.70041	1.0:0.0:0.0:0.0	.	219	P53618	COPB_HUMAN	S	219	ENSP00000249923:F219S;ENSP00000397873:F219S;ENSP00000436383:F219S	ENSP00000249923:F219S	F	-	2	0	0	COPB1	14466657	14466657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.956000	0.56807	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_016451			25	25		135	135	1		1	1		0	0	44	0		9.999999e-01	1	0	2	0	377	0	25	135
PSMA1	5682	broad.mit.edu	37	11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000396394.2	-	7	814	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000530457.1_Missense_Mutation_p.M115V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	140					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328																																						ENST00000396394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(418-420)Atg>Gtg		proteasome (prosome, macropain) subunit, alpha type, 1							62.0	65.0	64.0					11																	14535242		2200	4294	6494	SO:0001583	missense	5682	1	121412	31				g.chr11:14535242T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.418A>G	chr11.hg19:g.14535242T>C	ENSP00000379676:p.Met140Val	0					PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000530457.1_Missense_Mutation_p.M115V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V	p.M140V	NM_002786.3	NP_002777.1	1	2	3	1.993097	P25786	PSA1_HUMAN		7	814	-			A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	1	1	hg19	c.418A>G	CCDS7816.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.444090|4.444090	0.83993|0.83993	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|T;T;T;T	0.46063|0.20881	0.88|2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.17474|0.17474	0.49|0.49	0.31237|0.31237	N|N	0.695602|0.695602	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.06844|0.06844	-1.0804|-1.0804	7|10	0.51188|0.27082	T|T	0.08|0.32	-11.1186|-11.1186	16.4696|16.4696	0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146;140	.|P25786-2;P25786	.|.;PSA1_HUMAN	M|V	120|140;140;115;146	ENSP00000392242:I120M|ENSP00000379676:M140V;ENSP00000379675:M140V;ENSP00000441166:M115V;ENSP00000414359:M146V	ENSP00000392242:I120M|ENSP00000379675:M140V	I|M	-|-	3|1	3|0	3|0	PSMA1|PSMA1	14491818|14491818	14491818|14491818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.239000|7.239000	0.78182|0.78182	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	ATA|ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_002786			72	71		280	274	1		1	1		0	0	66	0		1	1	0	163	0	525	0	72	280
PDE3B	5140	broad.mit.edu	37	11	14880590	14880590	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	841	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCTTTTTAGGCAGTTTTATAC	0.333																																						ENST00000282096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2521-2523)gCa>gTa		phosphodiesterase 3B, cGMP-inhibited	Caffeine(DB00201)						91.0	89.0	90.0					11																	14880590		2200	4294	6494	SO:0001630	splice_region_variant	5140	0	0					g.chr11:14880590C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2521-1C>T	chr11.hg19:g.14880590C>T		0					PDE3B_ENST00000455098.2_Splice_Site_p.A790V	p.A841V	NM_000922.3	NP_000913.2	1	2	3	1.993097	Q13370	PDE3B_HUMAN		13	2875	+			B7ZM37|O00639|Q14408|Q6SEI4	Splice_Site	SNP	ENST00000282096.4	1	0	hg19	c.2522C>T	CCDS7817.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.258912	0.95368	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.84944	-1.92;-1.92	5.67	5.67	0.87782	5.67	5.67	0.87782	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	0.95503	0.8539	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96590	0.9437	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	790;841	B7ZM37;Q13370	.;PDE3B_HUMAN	V	841;790	ENSP00000282096:A841V;ENSP00000388644:A790V	ENSP00000282096:A841V	A	+	2	0	0	PDE3B	14837166	14837166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_000922	Missense_Mutation		67	65		324	317	0		1	0		0	0	44	0		1	9.206836e-01	0	0	0	23	0	67	324
CYP2R1	120227	broad.mit.edu	37	11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000334636.5	-	3	621	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	192					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(574-576)aAt>aCt		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						105.0	97.0	100.0					11																	14902107		2200	4293	6493	SO:0001583	missense	120227	0	0					g.chr11:14902107T>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.575A>C	chr11.hg19:g.14902107T>G	ENSP00000334592:p.Asn192Thr	0					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.N192T	NM_024514.4	NP_078790.2	1	2	3	1.993097	Q6VVX0	CP2R1_HUMAN		3	621	-			Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	1	1	hg19	c.575A>C	CCDS7818.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008957	0.75046	.	.	ENSG00000186104	ENST00000334636	T	0.67345	-0.26	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	L	0.55213	1.73	0.80722	D	1	D;P	0.76494	0.999;0.736	D;P	0.85130	0.997;0.649	T	0.80915	-0.1169	10	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	77;192	E9PS56;Q6VVX0	.;CP2R1_HUMAN	T	192	ENSP00000334592:N192T	ENSP00000334592:N192T	N	-	2	0	0	CYP2R1	14858683	14858683	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	5.167000	0.64972	2.248000	0.74166	0.459000	0.35465	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_024514			52	52		249	245	1		1	1		0	0	69	0		1	9.945985e-01	0	17	0	24	0	52	249
CALCB	797	broad.mit.edu	37	11	15096342	15096342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000533448.1	+	2	189	c.78G>A	c.(76-78)gcG>gcA	p.A26A	CALCB_ENST00000324229.6_Silent_p.A26A|CALCB_ENST00000523376.1_Silent_p.A37A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	26					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(76-78)gcG>gcA		calcitonin-related polypeptide beta							50.0	51.0	51.0					11																	15096342		2200	4294	6494	SO:0001819	synonymous_variant	797	0	0					g.chr11:15096342G>A		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.78G>A	chr11.hg19:g.15096342G>A		0		OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_ENST00000523376.1_Silent_p.A37A|CALCB_ENST00000324229.6_Silent_p.A26A	p.A26A			1	2	3	1.993097	P10092	CALCB_HUMAN		2	189	+			A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP	ENST00000533448.1	1	1	hg19	c.78G>A	CCDS7820.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.085897	1	0.170000	NM_000728			49	49		233	232	1		1			0	0	58	0		1	0	0	0	0	0	0	49	233
INSC	387755	broad.mit.edu	37	11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGCGGCCAGCGAAGGTCCA	0.607																																						ENST00000379554.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999903	0.990000	1.000000																										0				49						c.(34-36)aGc>aTc		inscuteable homolog (Drosophila)							48.0	64.0	59.0					11																	15134050		1987	4147	6134	SO:0001583	missense	387755	0	0					g.chr11:15134050G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.35G>T	chr11.hg19:g.15134050G>T	ENSP00000368872:p.Ser12Ile	0					INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	p.S12I	NM_001031853.3	NP_001027024.3	1	2	3	1.993097	Q1MX18	INSC_HUMAN		1	81	+			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	1	1	hg19	c.35G>T	CCDS41621.1	1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461602	0.12342	.	.	ENSG00000188487	ENST00000379554	T	0.34275	1.37	3.54	3.54	0.40534	3.54	3.54	0.40534	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.40179	D	0.977264	B	0.23735	0.09	B	0.34242	0.178	T	0.19451	-1.0305	9	0.72032	D	0.01	-2.209	10.9193	0.47154	0.0:0.0:1.0:0.0	.	12	Q1MX18	INSC_HUMAN	I	12	ENSP00000368872:S12I	ENSP00000368872:S12I	S	+	2	0	0	INSC	15090626	15090626	0.005000	0.15991	0.241000	0.24154	0.030000	0.12068	1.569000	0.36428	2.274000	0.75844	0.561000	0.74099	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_001031853			35	35		215	204	1		1			0	0	44	0		1	0	0	0	0	0	0	35	215
INSC	387755	broad.mit.edu	37	11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602																																						ENST00000379554.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				49						c.(37-39)Gaa>Aaa		inscuteable homolog (Drosophila)							51.0	67.0	62.0					11																	15134052		2000	4145	6145	SO:0001583	missense	387755	0	0					g.chr11:15134052G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.37G>A	chr11.hg19:g.15134052G>A	ENSP00000368872:p.Glu13Lys	0					INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	p.E13K	NM_001031853.3	NP_001027024.3	1	2	3	1.993097	Q1MX18	INSC_HUMAN		1	83	+			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	1	1	hg19	c.37G>A	CCDS41621.1	1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.086815	0.01873	.	.	ENSG00000188487	ENST00000379554	T	0.35421	1.31	3.54	-3.24	0.05094	3.54	-3.24	0.05094	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.30078	T	0.28	0.161	5.1726	0.15118	0.4866:0.1524:0.361:0.0	.	13	Q1MX18	INSC_HUMAN	K	13	ENSP00000368872:E13K	ENSP00000368872:E13K	E	+	1	0	0	INSC	15090628	15090628	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.209000	0.09358	-0.708000	0.05015	-1.975000	0.00460	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_001031853			35	35		212	200	1		1			0	0	44	0		1	0	0	0	0	0	0	35	212
INSC	387755	broad.mit.edu	37	11	15212360	15212360	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834G>T	c.(832-834)aaG>aaT	p.K278N	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000528567.1_Splice_Site_p.K231N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	278					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537																																						ENST00000379554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(832-834)aaG>aaT		inscuteable homolog (Drosophila)							79.0	82.0	81.0					11																	15212360		1938	4147	6085	SO:0001630	splice_region_variant	387755	0	0					g.chr11:15212360G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.834+1G>T	chr11.hg19:g.15212360G>T		0					INSC_ENST00000528567.1_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Splice_Site_p.K231N	p.K278N	NM_001031853.3	NP_001027024.3	1	2	3	1.993097	Q1MX18	INSC_HUMAN		6	880	+			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Splice_Site	SNP	ENST00000379554.3	1	0	hg19	c.834G>T	CCDS41621.1	1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324135	0.60634	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50813	0.75;0.75;0.73;0.75;0.75;0.73	6.06	5.15	0.70609	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.091772	0.85682	D	0.000000	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.57571	0.947;0.98;0.944;0.796	P;P;P;B	0.51101	0.659;0.646;0.646;0.281	T	0.57814	-0.7746	10	0.72032	D	0.01	-35.2374	12.7863	0.57507	0.0767:0.0:0.9233:0.0	.	266;231;231;278	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	278;231;231;266;231;231;231	ENSP00000368872:K278N;ENSP00000368874:K231N;ENSP00000389161:K231N;ENSP00000435022:K231N;ENSP00000436194:K231N;ENSP00000436113:K231N	ENSP00000368872:K278N	K	+	3	2	2	INSC	15168936	15168936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.302000	0.72788	1.573000	0.49748	0.650000	0.86243	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-3.578420	1	0.170000	NM_001031853	Missense_Mutation		108	105		427	416	0		1	0		0	0	108	0		1	3.519262e-01	0	0	0	6	0	108	427
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260573G>A	ENST00000379554.3	+	11	1533	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000528567.1_Missense_Mutation_p.R449H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																						ENST00000379554.3	1.000000	0.160000	5.500000e-01	2.500000e-01	0.370000	0.412327	0.370000	0.350000																										0				49						c.(1486-1488)cGt>cAt		inscuteable homolog (Drosophila)							51.0	53.0	52.0					11																	15260573		2086	4206	6292	SO:0001583	missense	387755	1	121042	36				g.chr11:15260573G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>A	chr11.hg19:g.15260573G>A	ENSP00000368872:p.Arg496His	0					INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407H	p.R496H	NM_001031853.3	NP_001027024.3	1	2	3	1.993097	Q1MX18	INSC_HUMAN		11	1533	+			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	0	1	hg19	c.1487G>A	CCDS41621.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.357252	0.95854	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	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	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	496;449;407;449;449;407	ENSP00000368872:R496H;ENSP00000368874:R449H;ENSP00000389161:R407H;ENSP00000435022:R449H;ENSP00000436194:R449H;ENSP00000436113:R407H	ENSP00000368872:R496H	R	+	2	0	0	INSC	15217149	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	0	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-8.482903	1	0.170000	NM_001031853			7	7		229	223	0		1	0		0	0	38	0		9.792270e-01	4.570494e-02	0	0	0	10	0	7	229
SOX6	55553	broad.mit.edu	37	11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	670					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)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438																																						ENST00000352083.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2008-2010)Tat>Cat		SRY (sex determining region Y)-box 6							151.0	149.0	150.0					11																	16007925		2200	4294	6494	SO:0001583	missense	55553	0	0					g.chr11:16007925A>G	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.2008T>C	chr11.hg19:g.16007925A>G	ENSP00000339876:p.Tyr670His	0					SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H	p.Y670H			1	2	3	1.993097	P35712	SOX6_HUMAN		15	2085	-			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	1	1	hg19	c.2008T>C		1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203537	0.79127	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.38	5.38	0.77491	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.116551	0.64402	D	0.000011	D	0.99573	0.9846	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.975;0.996;0.994	D	0.97910	1.0308	10	0.87932	D	0	.	15.3873	0.74711	1.0:0.0:0.0:0.0	.	650;670;646	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	650;670;650;643;646;670	ENSP00000324948:Y650H;ENSP00000339876:Y670H;ENSP00000379644:Y650H;ENSP00000432134:Y643H;ENSP00000434455:Y646H;ENSP00000433233:Y670H	ENSP00000324948:Y650H	Y	-	1	0	0	SOX6	15964501	15964501	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	TAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	1	0	1		22	2	2	0		0	1	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_033326			102	99		456	447	1		1	0		0	0	80	0		1	3.765854e-01	0	0	0	7	0	102	456
SOX6	55553	broad.mit.edu	37	11	16077436	16077436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000316399.6_Silent_p.A371A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					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)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448																																						ENST00000352083.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1111-1113)gcC>gcT		SRY (sex determining region Y)-box 6							98.0	86.0	90.0					11																	16077436		2200	4294	6494	SO:0001819	synonymous_variant	55553	4	121408	35				g.chr11:16077436G>A	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.1113C>T	chr11.hg19:g.16077436G>A		0					SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A	p.A371A			1	2	3	1.993097	P35712	SOX6_HUMAN		10	1190	-			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	1	1	hg19	c.1113C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-2.985995	1	0.170000	NM_033326			51	50		232	225	1		1	0		0	0	46	0		1	1.556212e-01	0	0	0	4	0	51	232
C11orf58	10944	broad.mit.edu	37	11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348																																						ENST00000228136.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(88-90)Gca>Aca		chromosome 11 open reading frame 58							91.0	86.0	88.0					11																	16766172		2200	4294	6494	SO:0001583	missense	10944	0	0					g.chr11:16766172G>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.88G>A	chr11.hg19:g.16766172G>A	ENSP00000228136:p.Ala30Thr	0					C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T	p.A30T			1	2	3	1.993097	O00193	SMAP_HUMAN		2	466	+			B2RD28	Missense_Mutation	SNP	ENST00000228136.4	1	1	hg19	c.88G>A	CCDS7822.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912490	0.92178	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.052795	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.80910	-0.1171	9	0.72032	D	0.01	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	30	O00193	SMAP_HUMAN	T	30	.	ENSP00000228136:A30T	A	+	1	0	0	C11orf58	16722748	16722748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.685000	0.91497	0.585000	0.79938	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_014267			71	68		251	247	1		1	1		0	0	70	0		1	1	0	178	0	850	0	71	251
PLEKHA7	144100	broad.mit.edu	37	11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000355661.3	-	22	3155	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T|PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1049					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)			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						GGGAAGGTCGCCTTGCTGCTT	0.612																																						ENST00000355661.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				37						c.(3145-3147)Gcg>Acg		pleckstrin homology domain containing, family A member 7							141.0	106.0	118.0					11																	16811333		2200	4294	6494	SO:0001583	missense	144100	1	121412	29				g.chr11:16811333C>T	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.3145G>A	chr11.hg19:g.16811333C>T	ENSP00000347883:p.Ala1049Thr	0					PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T|PLEKHA7_ENST00000332954.4_5'UTR	p.A1049T			1	2	3	1.993097	Q6IQ23	PKHA7_HUMAN		22	3155	-			B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	1	1	hg19	c.3145G>A	CCDS31434.1	1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036085	0.19590	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.29;3.3;3.3	5.69	-0.19	0.13256	5.69	-0.19	0.13256	.	1.321840	0.04514	N	0.383466	T	0.03305	0.0096	N	0.08118	0	0.28840	N	0.896653	B;B;B;B;B	0.23990	0.02;0.023;0.057;0.095;0.008	B;B;B;B;B	0.18871	0.018;0.01;0.01;0.023;0.022	T	0.40701	-0.9549	10	0.05525	T	0.97	-0.3836	9.7991	0.40753	0.0:0.5945:0.0:0.4055	.	624;1049;1049;1050;166	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	T	1049;1049;1050	ENSP00000435389:A1049T;ENSP00000347883:A1049T;ENSP00000416895:A1050T	ENSP00000347883:A1049T	A	-	1	0	0	PLEKHA7	16767909	16767909	0.980000	0.34600	0.775000	0.31657	0.897000	0.52465	0.091000	0.15046	-0.200000	0.10300	0.655000	0.94253	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_175058			28	28		135	133	1		1	1		0	0	38	0		1	9.954028e-01	0	4	0	40	0	28	135
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					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)			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						GGCTGGTCTCGGTACTGCTCC	0.557																																						ENST00000355661.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2209-2211)Cga>Tga		pleckstrin homology domain containing, family A member 7							114.0	104.0	107.0					11																	16823313		2200	4294	6494	SO:0001587	stop_gained	144100	0	0					g.chr11:16823313G>A	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.2209C>T	chr11.hg19:g.16823313G>A	ENSP00000347883:p.Arg737*	0					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*	p.R737*			1	2	3	1.993097	Q6IQ23	PKHA7_HUMAN		16	2219	-			B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	0	1	hg19	c.2209C>T	CCDS31434.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	2	PLEKHA7	16779889	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.764055	1	0.170000	NM_175058			64	64		267	266	1		1	1		0	0	71	0		1	9.986457e-01	0	5	0	39	0	64	267
PLEKHA7	144100	broad.mit.edu	37	11	16847918	16847918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16847918C>T	ENST00000355661.3	-	10	1102	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	PLEKHA7_ENST00000448080.2_Silent_p.P364P|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	364					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)			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						CTGGCGAGTACGGAGACCTGG	0.607																																						ENST00000355661.3	1.000000	0.170000	4.500000e-01	2.300000e-01	0.320000	0.361311	0.320000	0.310000																										0				37						c.(1090-1092)ccG>ccA		pleckstrin homology domain containing, family A member 7							66.0	58.0	61.0					11																	16847918		2200	4294	6494	SO:0001819	synonymous_variant	144100	4	121412	36				g.chr11:16847918C>T	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.1092G>A	chr11.hg19:g.16847918C>T		0					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P	p.P364P			1	2	3	1.993097	Q6IQ23	PKHA7_HUMAN		10	1102	-			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	0	1	hg19	c.1092G>A	CCDS31434.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-10.222850	1	0.170000	NM_175058			11	11		404	399	0		1	0		0	0	63	0		9.982682e-01	3.373068e-02	0	1	0	9	0	11	404
PLEKHA7	144100	broad.mit.edu	37	11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000355661.3	-	9	793	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|RN7SKP90_ENST00000363013.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	261	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						CGGCACTGAAGTAGTAGGTCC	0.577																																						ENST00000355661.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(781-783)taC>taA		pleckstrin homology domain containing, family A member 7							120.0	98.0	106.0					11																	16863183		2200	4294	6494	SO:0001587	stop_gained	144100	0	0					g.chr11:16863183G>T	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.783C>A	chr11.hg19:g.16863183G>T	ENSP00000347883:p.Tyr261*	0					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*|RN7SKP90_ENST00000363013.1_RNA	p.Y261*			1	2	3	1.993097	Q6IQ23	PKHA7_HUMAN		9	793	-			B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	0	1	hg19	c.783C>A	CCDS31434.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.775681	0.96922	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	1.26	0.21427	5.16	1.26	0.21427	.	0.050847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6783	10.5457	0.45058	0.2786:0.0:0.7214:0.0	.	.	.	.	X	261	.	ENSP00000347883:Y261X	Y	-	3	2	2	PLEKHA7	16819759	16819759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.571000	0.53841	0.440000	0.26502	0.650000	0.86243	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_175058			85	85		319	313	1		1	1		0	0	85	0		1	9.844352e-01	0	4	0	23	0	85	319
PLEKHA7	144100	broad.mit.edu	37	11	16877362	16877362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16877362C>A	ENST00000355661.3	-	5	415	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	135					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)			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						TGGGTCCAGGCTTGGCCTCCA	0.522																																						ENST00000355661.3	1.000000	0.110000	2.700000e-01	1.500000e-01	0.200000	0.236960	0.200000	0.190000																										0				37						c.(403-405)aaG>aaT		pleckstrin homology domain containing, family A member 7							153.0	148.0	150.0					11																	16877362		2200	4294	6494	SO:0001583	missense	144100	0	0					g.chr11:16877362C>A	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.405G>T	chr11.hg19:g.16877362C>A	ENSP00000347883:p.Lys135Asn	0					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N	p.K135N			1	2	3	1.993097	Q6IQ23	PKHA7_HUMAN		5	415	-			B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	0	1	hg19	c.405G>T	CCDS31434.1	0	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354909	0.41700	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.23348	3.22;3.22;3.22;1.91	5.65	1.41	0.22369	5.65	1.41	0.22369	.	0.370841	0.31268	N	0.007950	T	0.13457	0.0326	L	0.27053	0.805	0.31977	N	0.606381	B;P	0.36282	0.282;0.546	B;B	0.31812	0.07;0.136	T	0.14811	-1.0459	10	0.33940	T	0.23	-26.8122	6.8654	0.24091	0.0:0.4738:0.0:0.5262	.	135;135	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	135;135;135;29	ENSP00000435389:K135N;ENSP00000347883:K135N;ENSP00000416895:K135N;ENSP00000435806:K29N	ENSP00000347883:K135N	K	-	3	2	2	PLEKHA7	16833938	16833938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.875000	0.28079	0.449000	0.26747	0.655000	0.94253	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	0	0	1		2	2	2	0		0	0	153		153	146	1	2.060000	-2.615259	1	0.170000	NM_175058			14	14		836	816	0		1	0		0	0	153	0		9.997071e-01	1.612506e-02	0	0	0	11	0	14	836
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T	rs573278976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916	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.A916S(1)|p.A916T(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						CAGTTTGGGGCGCTTGCTAAT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15411	0.0		0.0	False		,,,				2504	0.0					ENST00000265970.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A916S(1)|p.A916T(1)	lung(1)|central_nervous_system(1)	58						c.(2746-2748)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha							112.0	115.0	114.0					11																	17141433		2200	4293	6493	SO:0001583	missense	5286	6	121412	38				g.chr11:17141433C>T	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.2746G>A	chr11.hg19:g.17141433C>T	ENSP00000265970:p.Ala916Thr	0					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T|PIK3C2A_ENST00000531428.1_Intron	p.A916T	NM_002645.2	NP_002636.2	1	2	3	1.993097	O00443	P3C2A_HUMAN		15	2745	-			B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	1	1	hg19	c.2746G>A	CCDS7824.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549157	0.86127	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.61510	0.1;0.1	5.28	4.37	0.52481	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.69495	0.3117	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.70898	-0.4747	10	0.49607	T	0.09	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	T	916;536	ENSP00000265970:A916T;ENSP00000438687:A536T	ENSP00000265970:A916T	A	-	1	0	0	PIK3C2A	17098009	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_002645			88	85		339	331	1		1	1		0	0	70	0		1	9.989444e-01	0	10	0	32	0	88	339
PIK3C2A	5286	broad.mit.edu	37	11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	786	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				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)			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						TGCCCAAAGCTTCTGGTCCCT	0.383																																						ENST00000265970.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(2356-2358)gaA>gaC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha							92.0	97.0	95.0					11																	17150888		2200	4293	6493	SO:0001583	missense	5286	0	0					g.chr11:17150888T>G	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.2358A>C	chr11.hg19:g.17150888T>G	ENSP00000265970:p.Glu786Asp	0					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D|PIK3C2A_ENST00000531428.1_Intron	p.E786D	NM_002645.2	NP_002636.2	1	2	3	1.993097	O00443	P3C2A_HUMAN		12	2357	-			B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	1	1	hg19	c.2358A>C	CCDS7824.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025382	0.75390	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77877	-1.13;-1.13	6.17	5.05	0.67936	6.17	5.05	0.67936	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.81540	-0.0886	10	0.28530	T	0.3	-26.1649	6.5547	0.22454	0.0:0.2214:0.0:0.7786	.	786	O00443	P3C2A_HUMAN	D	786;406	ENSP00000265970:E786D;ENSP00000438687:E406D	ENSP00000265970:E786D	E	-	3	2	2	PIK3C2A	17107464	17107464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	2.371000	0.80710	0.533000	0.62120	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_002645			86	83		318	311	1		1	1		0	0	91	0		1	9.996535e-01	0	21	0	25	0	86	318
PIK3C2A	5286	broad.mit.edu	37	11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	685	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				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)			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						AAACTGGAGCTGCTCTGTTGT	0.428																																						ENST00000265970.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(2053-2055)cAg>cGg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha							139.0	140.0	140.0					11																	17156420		2200	4293	6493	SO:0001583	missense	5286	0	0					g.chr11:17156420T>C	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.2054A>G	chr11.hg19:g.17156420T>C	ENSP00000265970:p.Gln685Arg	0					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R|PIK3C2A_ENST00000531428.1_Intron	p.Q685R	NM_002645.2	NP_002636.2	1	2	3	1.993097	O00443	P3C2A_HUMAN		10	2053	-			B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	1	1	hg19	c.2054A>G	CCDS7824.1	1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925415	0.52759	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62364	0.03;0.4	5.59	5.59	0.84812	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.155014	0.56097	D	0.000027	T	0.51534	0.1680	L	0.40543	1.245	0.32711	N	0.511585	B	0.29716	0.255	B	0.27262	0.078	T	0.57093	-0.7870	10	0.11794	T	0.64	-0.5823	15.8332	0.78773	0.0:0.0:0.0:1.0	.	685	O00443	P3C2A_HUMAN	R	685;305	ENSP00000265970:Q685R;ENSP00000438687:Q305R	ENSP00000265970:Q685R	Q	-	2	0	0	PIK3C2A	17112996	17112996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.733000	0.74796	2.153000	0.67306	0.477000	0.44152	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_002645			106	105		438	425	1		1	1		0	0	104	0		1	9.990914e-01	0	14	0	31	0	106	438
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	342					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)			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						CTGAGTTGTTCGAATATTTAA	0.373																																						ENST00000265970.7	1.000000	0.660000	1	7.700000e-01	0.900000	0.895961	0.900000	1.000000																										0				58						c.(1024-1026)cGa>cAa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha							93.0	98.0	96.0					11																	17190264		2200	4293	6493	SO:0001583	missense	5286	2	121410	39				g.chr11:17190264C>T	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.1025G>A	chr11.hg19:g.17190264C>T	ENSP00000265970:p.Arg342Gln	0					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.R342Q	NM_002645.2	NP_002636.2	1	2	3	1.993097	O00443	P3C2A_HUMAN		1	1024	-			B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	1	1	hg19	c.1025G>A	CCDS7824.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112024	0.37242	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64438	-0.1	5.39	2.39	0.29439	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47002	0.1422	L	0.32530	0.975	0.80722	D	1	D;P	0.56287	0.975;0.717	B;B	0.41619	0.361;0.13	T	0.29882	-0.9997	10	0.11485	T	0.65	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	Q	342	ENSP00000265970:R342Q	ENSP00000265970:R342Q	R	-	2	0	0	PIK3C2A	17146840	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.318793	1	0.170000	NM_002645			42	40		507	493	1		1	1		0	0	101	0		1	9.572352e-01	0	7	0	57	0	42	507
NUCB2	4925	broad.mit.edu	37	11	17316892	17316892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000458064.2_Silent_p.L8L|NUCB2_ENST00000323688.6_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	8						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)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353																																						ENST00000529010.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(22-24)Cta>Tta		nucleobindin 2							301.0	278.0	285.0					11																	17316892		1892	4121	6013	SO:0001819	synonymous_variant	4925	0	0					g.chr11:17316892C>T	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.22C>T	chr11.hg19:g.17316892C>T		0					NUCB2_ENST00000323688.6_Silent_p.L8L|NUCB2_ENST00000458064.2_Silent_p.L8L	p.L8L	NM_005013.2	NP_005004	1	2	3	1.993097	P80303	NUCB2_HUMAN		3	241	+			A8K642|D3DQX5|Q8NFT5	Silent	SNP	ENST00000529010.1	1	1	hg19	c.22C>T	CCDS41623.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	1	0	1		2	2	2	0		0	0	170		170	170	1	2.060000	-20.000000	1	0.170000	NM_005013			157	152		660	647	0		1	1		0	0	170	0		1	1	0	41	0	203	0	157	660
KCNJ11	3767	broad.mit.edu	37	11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	349					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GTCCTCATCAAGCTGGCGGGC	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4	1.000000	0.650000	1	7.700000e-01	0.900000	0.892123	0.900000	1.000000																										0				16						c.(1045-1047)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)						122.0	112.0	115.0					11																	17408593		2200	4293	6493	SO:0001583	missense	3767	0	0					g.chr11:17408593A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1046T>G	chr11.hg19:g.17408593A>C	ENSP00000345708:p.Leu349Arg	0		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	p.L349R	NM_000525.3	NP_000516.3	1	2	3	1.993097	Q14654	KCJ11_HUMAN		1	1613	-			B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	1	1	hg19	c.1046T>G	CCDS31436.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990903	0.74703	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92545	-3.06;-3.06	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.95557	0.8556	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.96066	0.9042	10	0.87932	D	0	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	349	B2RC52	.	R	349;262	ENSP00000345708:L349R;ENSP00000434755:L262R	ENSP00000345708:L349R	L	-	2	0	0	KCNJ11	17365169	17365169	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.060000	0.61445	0.459000	0.35465	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_000525			41	40		498	489	0		1	1		0	0	95	0		1	3.263362e-01	0	3	0	12	0	41	498
ABCC8	6833	broad.mit.edu	37	11	17414677	17414677	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000389817.3	-	39	4677		c.e39-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						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)			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)	CACTCGATGCTGGGCAGGGCA	0.642																																						ENST00000389817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67	GRCh37	CS025926|CS061237	ABCC8	S		c.e39-2		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	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)						56.0	46.0	50.0					11																	17414677		2200	4293	6493	SO:0001630	splice_region_variant	6833	0	0					g.chr11:17414677T>G	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.4609-2A>C	chr11.hg19:g.17414677T>G		0					ABCC8_ENST00000302539.4_Splice_Site				1	2	3	1.993097	Q09428	ABCC8_HUMAN		39	4677	-			A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	1	1	hg19		CCDS31437.1	1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336514	0.60963	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.069	0.72021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ABCC8	17371253	17371253	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.683000	0.84093	1.968000	0.57251	0.459000	0.35465	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_000352	Intron		51	50		244	234	1		1			0	0	32	0		1	0	0	0	0	0	0	51	244
ABCC8	6833	broad.mit.edu	37	11	17496471	17496471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000389817.3	-	2	320	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000302539.4_Silent_p.V84V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					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)			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)	CACACACCAGGACGAAGAGCA	0.557																																						ENST00000389817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(250-252)gtC>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	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)						215.0	149.0	171.0					11																	17496471		2200	4293	6493	SO:0001819	synonymous_variant	6833	0	0					g.chr11:17496471G>A	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.252C>T	chr11.hg19:g.17496471G>A		0					ABCC8_ENST00000302539.4_Silent_p.V84V	p.V84V			1	2	3	1.993097	Q09428	ABCC8_HUMAN		2	320	-			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	1	1	hg19	c.252C>T	CCDS31437.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.999990	1	0.170000	NM_000352			48	48		238	231	1		1	0		0	0	67	0		1	8.034212e-01	0	0	0	17	0	48	238
USH1C	10083	broad.mit.edu	37	11	17522689	17522689	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17522689G>T	ENST00000318024.4	-	18	1497	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	USH1C_ENST00000527720.1_Silent_p.S432S|USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000005226.7_Silent_p.S763S|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	463	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			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						CCAGGTCTAAGGATCCCTCCT	0.587																																						ENST00000318024.4	1.000000	0.190000	7.500000e-01	3.100000e-01	0.490000	0.533269	0.490000	1.000000																										0				48						c.(1387-1389)tcC>tcA		Usher syndrome 1C (autosomal recessive, severe)							56.0	48.0	50.0					11																	17522689		2200	4293	6493	SO:0001819	synonymous_variant	10083	0	0					g.chr11:17522689G>T	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.1389C>A	chr11.hg19:g.17522689G>T		0					USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000527720.1_Silent_p.S432S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Silent_p.S763S	p.S463S	NM_005709.3	NP_005700.2	1	2	3	1.993097	Q9Y6N9	USH1C_HUMAN		18	1497	-			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	0	1	hg19	c.1389C>A	CCDS31438.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	0	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-8.116648	1	0.170000	NM_005709			5	5		125	124	0		1	1		0	0	36	0		9.375199e-01	9.435451e-01	0	13	0	121	0	5	125
USH1C	10083	broad.mit.edu	37	11	17545008	17545008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000318024.4	-	10	885	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000527720.1_Silent_p.V228V|USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000005226.7_Silent_p.V259V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	259	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			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						CATTGACTTCGACAATCTGGT	0.537																																						ENST00000318024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(775-777)gtC>gtT		Usher syndrome 1C (autosomal recessive, severe)							122.0	106.0	111.0					11																	17545008		2200	4293	6493	SO:0001819	synonymous_variant	10083	6	121412	39				g.chr11:17545008G>A	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.777C>T	chr11.hg19:g.17545008G>A		0					USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V|USH1C_ENST00000005226.7_Silent_p.V259V	p.V259V	NM_005709.3	NP_005700.2	1	2	3	1.993097	Q9Y6N9	USH1C_HUMAN		10	885	-			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	1	1	hg19	c.777C>T	CCDS31438.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_005709			39	39		163	158	1		1	1		0	0	47	0		1	9.999930e-01	0	68	0	12	0	39	163
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130					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)			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)	CTGGACAACAGCGCCGACGAC	0.711																																						ENST00000379472.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(388-390)aGc>aAc		potassium voltage-gated channel, Shaw-related subfamily, member 1	Dalfampridine(DB06637)						13.0	16.0	15.0					11																	17757938		2187	4284	6471	SO:0001583	missense	3746	0	0					g.chr11:17757938G>A	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.389G>A	chr11.hg19:g.17757938G>A	ENSP00000368785:p.Ser130Asn	0					KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	p.S130N	NM_004976.4	NP_004967.1	1	2	3	1.993097	P48547	KCNC1_HUMAN		1	419	+			K4DI87	Missense_Mutation	SNP	ENST00000379472.3	1	1	hg19	c.389G>A	CCDS7827.1	1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597491	0.28445	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97016	-4.21;-4.21	5.18	4.26	0.50523	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.90995	0.7168	N	0.03608	-0.345	0.34414	D	0.69675	B;B	0.16603	0.0;0.018	B;B	0.18263	0.001;0.021	T	0.75972	-0.3129	10	0.22706	T	0.39	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	N	130	ENSP00000265969:S130N;ENSP00000368785:S130N	ENSP00000265969:S130N	S	+	2	0	0	KCNC1	17714514	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_004976			39	39		113	111	0		1			0	0	33	0		1	0	0	0	0	0	0	39	113
KCNC1	3746	broad.mit.edu	37	11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	314					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)			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)	CGCGTCGTCCGCTTCGTGCGC	0.637																																						ENST00000379472.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(940-942)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 1	Dalfampridine(DB06637)						68.0	62.0	64.0					11																	17793582		2200	4293	6493	SO:0001583	missense	3746	0	0					g.chr11:17793582G>A	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.941G>A	chr11.hg19:g.17793582G>A	ENSP00000368785:p.Arg314His	0					KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	p.R314H	NM_004976.4	NP_004967.1	1	2	3	1.993097	P48547	KCNC1_HUMAN		2	971	+			K4DI87	Missense_Mutation	SNP	ENST00000379472.3	1	1	hg19	c.941G>A	CCDS7827.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241352	0.79912	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99239	-5.61;-5.61	4.95	4.95	0.65309	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97794	1.0240	10	0.87932	D	0	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	314;314	Q3KNS8;P48547	.;KCNC1_HUMAN	H	314	ENSP00000265969:R314H;ENSP00000368785:R314H	ENSP00000265969:R314H	R	+	2	0	0	KCNC1	17750158	17750158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.617231	1	0.170000	NM_004976			53	51		206	205	1		1			0	0	40	0		1	0	0	0	0	0	0	53	206
TPH1	7166	broad.mit.edu	37	11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	406					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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398																																						ENST00000250018.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1216-1218)Cgg>Tgg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	228.0	223.0	225.0		1216	5.5	1.0	11	dbSNP_134	225	1,8585	1.2+/-3.3	0,1,4292	yes	missense	TPH1	NM_004179.2	101	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	406/445	18042657	2,12984	2200	4293	6493	SO:0001583	missense	7166	6	121410	43				g.chr11:18042657G>A	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.1216C>T	chr11.hg19:g.18042657G>A	ENSP00000250018:p.Arg406Trp	0					RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W	p.R406W	NM_004179.2	NP_004170.1	1	2	3	1.993097	P17752	TPH1_HUMAN		10	1778	-			D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	1	1	hg19	c.1216C>T	CCDS7829.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.527324	0.96431	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99571	-6.19;-6.19	5.53	5.53	0.82687	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.355631	0.33161	N	0.005214	D	0.99001	0.9659	L	0.29908	0.895	0.46317	D	0.998982	P	0.41643	0.758	P	0.50791	0.65	D	0.99898	1.1153	10	0.87932	D	0	-2.2416	19.8304	0.96632	0.0:0.0:1.0:0.0	.	406	P17752	TPH1_HUMAN	W	406	ENSP00000250018:R406W;ENSP00000343550:R406W	ENSP00000250018:R406W	R	-	1	2	2	TPH1	17999233	17999233	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	1	0	1		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000	NM_004179			122	120		564	555	1		1			0	0	160	0		1	0	0	0	0	0	0	122	564
TPH1	7166	broad.mit.edu	37	11	18057690	18057690	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1						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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353																																						ENST00000250018.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				25						c.e2-1		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						88.0	83.0	85.0					11																	18057690		2200	4293	6493	SO:0001630	splice_region_variant	7166	0	0					g.chr11:18057690C>A	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.118-1G>T	chr11.hg19:g.18057690C>A		0					TPH1_ENST00000341556.2_Splice_Site		NM_004179.2	NP_004170.1	1	2	3	1.993097	P17752	TPH1_HUMAN		2	680	-			D3DQX6|O95188|O95189|Q16736|Q3KPG8	Splice_Site	SNP	ENST00000250018.2	1	1	hg19		CCDS7829.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234470	0.79800	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	.	.	.	5.33	5.33	0.75918	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3742	0.94502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TPH1	18014266	18014266	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.741000	0.84997	2.650000	0.89964	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-3.236119	1	0.170000	NM_004179	Intron		22	21		101	99	1		1			0	0	27	0		9.999992e-01	0	0	0	0	0	0	22	101
SAAL1	113174	broad.mit.edu	37	11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000524803.1	-	6	620	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	191										breast(2)|large_intestine(5)|lung(8)	15						GAACTTGACATAATGAAGCAA	0.353																																						ENST00000524803.1	1.000000	0.330000	8.500000e-01	4.600000e-01	0.620000	0.649555	0.620000	1.000000																										0				15						c.(571-573)Atg>Gtg		serum amyloid A-like 1							49.0	46.0	47.0					11																	18111740		2200	4293	6493	SO:0001583	missense	113174	0	0					g.chr11:18111740T>C	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.571A>G	chr11.hg19:g.18111740T>C	ENSP00000432487:p.Met191Val	0					SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V	p.M191V			1	2	3	1.993097	Q96ER3	SAAL1_HUMAN		6	620	-			A6NH05	Missense_Mutation	SNP	ENST00000524803.1	1	1	hg19	c.571A>G	CCDS31439.1	0	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445277	0.63178	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.50813	1.36;0.73;1.3;0.84;0.73;1.3	5.78	4.62	0.57501	5.78	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.081223	0.85682	D	0.000000	T	0.55847	0.1946	M	0.63843	1.955	0.42764	D	0.993818	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.53062	0.717;0.717;0.717	T	0.59247	-0.7490	10	0.72032	D	0.01	-13.3883	10.8183	0.46589	0.141:0.0:0.0:0.859	.	191;191;191	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	V	191;191;28;80;191;180	ENSP00000432487:M191V;ENSP00000300013:M191V;ENSP00000432044:M28V;ENSP00000436031:M80V;ENSP00000432216:M191V;ENSP00000431489:M180V	ENSP00000300013:M191V	M	-	1	0	0	SAAL1	18068316	18068316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	0.963000	0.38082	0.519000	0.50382	ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-14.543690	1	0.170000	NM_138421			11	11		204	200	0		1	1		0	0	39	0		9.982929e-01	4.355929e-01	0	4	0	23	0	11	204
MRGPRX3	117195	broad.mit.edu	37	11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T	rs565496221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						GTACCACTGCCGCCGCCCCAG	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.001					ENST00000396275.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(397-399)Cgc>Tgc		MAS-related GPR, member X3							117.0	110.0	112.0					11																	18159146		2200	4293	6493	SO:0001583	missense	117195	8	121412	45				g.chr11:18159146C>T		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.397C>T	chr11.hg19:g.18159146C>T	ENSP00000379571:p.Arg133Cys	0						p.R133C	NM_054031.3	NP_473372.3	1	2	3	1.993097	Q96LB0	MRGX3_HUMAN		3	758	+			B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	1	1	hg19	c.397C>T	CCDS7830.1	1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910516	0.17833	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.73469	-0.75;-0.75	1.46	-0.827	0.10802	1.46	-0.827	0.10802	GPCR, rhodopsin-like superfamily (1);	0.878186	0.09819	N	0.751759	T	0.67401	0.2889	L	0.58925	1.835	0.24824	N	0.992564	B	0.22800	0.075	B	0.27715	0.082	T	0.60311	-0.7288	10	0.87932	D	0	.	5.0768	0.14636	0.0:0.4322:0.0:0.5678	.	133	Q96LB0	MRGX3_HUMAN	C	133	ENSP00000379571:R133C;ENSP00000436242:R133C	ENSP00000379571:R133C	R	+	1	0	0	MRGPRX3	18115722	18115722	0.001000	0.12720	0.035000	0.18076	0.017000	0.09413	1.191000	0.32138	-0.245000	0.09625	-0.450000	0.05554	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-3.259123	1	0.170000	NM_054031			157	151		711	700	1		1			0	0	160	0		1	0	0	0	0	0	0	157	711
SAA1	6288	broad.mit.edu	37	11	18290872	18290872	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18290872A>C	ENST00000405158.2	+	3	406	c.222A>C	c.(220-222)gaA>gaC	p.E74D	SAA1_ENST00000356524.4_Missense_Mutation_p.E74D|SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|RNA5SP334_ENST00000364825.1_RNA	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	74					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)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGGCTGCAGAAGTGATCACGT	0.557																																						ENST00000405158.2	1.000000	0.250000	1	4.400000e-01	0.730000	0.724184	0.730000	1.000000																										0				9						c.(220-222)gaA>gaC		serum amyloid A1	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						18.0	19.0	18.0					11																	18290872		2189	4255	6444	SO:0001583	missense	6288	27	117234	32				g.chr11:18290872A>C	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.222A>C	chr11.hg19:g.18290872A>C	ENSP00000384906:p.Glu74Asp	0					RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	p.E74D	NM_000331.4	NP_000322	1	2	3	1.993097	P0DJI8	SAA1_HUMAN		3	406	+			P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	0	1	hg19	c.222A>C	CCDS7835.1	0	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499676	0.44455	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.10763	2.84;2.84;2.84	3.23	0.744	0.18353	3.23	0.744	0.18353	.	0.647219	0.15120	N	0.279424	T	0.18467	0.0443	M	0.78456	2.415	0.09310	N	1	B;P	0.43412	0.39;0.806	B;P	0.47864	0.161;0.559	T	0.07558	-1.0766	10	0.87932	D	0	.	6.286	0.21033	0.7704:0.0:0.2296:0.0	.	74;74	D3DQX7;P02735	.;SAA_HUMAN	D	74	ENSP00000348918:E74D;ENSP00000436866:E74D;ENSP00000384906:E74D	ENSP00000348918:E74D	E	+	3	2	2	SAA1	18247448	18247448	0.933000	0.31639	0.001000	0.08648	0.021000	0.10359	1.641000	0.37197	0.136000	0.18733	0.374000	0.22700	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	0	0	1		2	2	2	0		0	0	13		13	19	1	2.060000	-2.869873	1	0.170000	NM_199161			4	4		66	65	0		1	0		0	0	13	0		8.889764e-01	8.471691e-01	0	0	0	59	0	4	66
HPS5	11234	broad.mit.edu	37	11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A	rs200872830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000349215.3	-	16	2646	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000396253.3_Missense_Mutation_p.A676V	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	790					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398									Hermansky-Pudlak syndrome																													ENST00000349215.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				30						c.(2368-2370)gCg>gTg		Hermansky-Pudlak syndrome 5		G	VAL/ALA,VAL/ALA,VAL/ALA	4,4394	8.1+/-20.4	0,4,2195	67.0	64.0	65.0		2027,2369,2027	2.3	1.0	11		65	0,8586		0,0,4293	yes	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	64,64,64	0,4,6488	AA,AG,GG		0.0,0.091,0.0308	benign,benign,benign	676/1016,790/1130,676/1016	18313060	4,12980	2199	4293	6492	SO:0001583	missense	11234	20	121410	40	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr11:18313060G>A	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.2369C>T	chr11.hg19:g.18313060G>A	ENSP00000265967:p.Ala790Val	0					HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000396253.3_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR	p.A790V	NM_181507.1	NP_852608.1	1	2	3	1.993097	Q9UPZ3	HPS5_HUMAN		16	2646	-			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	1	1	hg19	c.2369C>T	CCDS7836.1	1	.	.	.	.	.	.	.	.	.	.	G	1.114	-0.657429	0.03480	9.1E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76709	-1.04;-1.04;-1.04	5.56	2.33	0.28932	5.56	2.33	0.28932	.	0.299602	0.36303	N	0.002665	T	0.54351	0.1853	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	10	0.02654	T	1	.	5.3766	0.16168	0.5457:0.0:0.4543:0.0	.	790	Q9UPZ3	HPS5_HUMAN	V	676;676;790	ENSP00000379552:A676V;ENSP00000399590:A676V;ENSP00000265967:A790V	ENSP00000265967:A790V	A	-	2	0	0	HPS5	18269636	18269636	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.151000	0.58105	0.723000	0.32274	-0.751000	0.03497	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_181507			32	31		169	165	1		1	1		0	0	41	0		1	9.958129e-01	0	4	0	44	0	32	169
GTF2H1	2965	broad.mit.edu	37	11	18359773	18359773	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	155					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)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378								Nucleotide excision repair (NER)																														ENST00000265963.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(463-465)tcT>tcG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							197.0	179.0	185.0					11																	18359773		2199	4293	6492	SO:0001819	synonymous_variant	2965	0	0					g.chr11:18359773T>G		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.465T>G	chr11.hg19:g.18359773T>G		0					GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000524753.4_5'UTR	p.S155S	NM_005316.3	NP_005307.1	1	2	3	1.993097	P32780	TF2H1_HUMAN		4	625	+			B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	1	1	hg19	c.465T>G	CCDS7838.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_005316			88	86		414	406	1		1	1		0	0	132	0		1	9.999178e-01	0	18	0	48	0	88	414
GTF2H1	2965	broad.mit.edu	37	11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	543					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)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483								Nucleotide excision repair (NER)																														ENST00000265963.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999854	0.990000	1.000000																										0				20						c.(1627-1629)Cgt>Tgt	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							144.0	122.0	130.0					11																	18387396		2199	4293	6492	SO:0001583	missense	2965	1	121412	30				g.chr11:18387396C>T		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.1627C>T	chr11.hg19:g.18387396C>T	ENSP00000265963:p.Arg543Cys	0					GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C	p.R543C	NM_005316.3	NP_005307.1	1	2	3	1.993097	P32780	TF2H1_HUMAN		15	1787	+			B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	1	1	hg19	c.1627C>T	CCDS7838.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171966	0.78452	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.55588	1.66;1.66;1.66;0.55;0.51	5.95	5.03	0.67393	5.95	5.03	0.67393	.	0.100411	0.64402	D	0.000001	T	0.66489	0.2794	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-3.5832	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	543	P32780	TF2H1_HUMAN	C	543;427;543;231;133	ENSP00000393638:R543C;ENSP00000435375:R427C;ENSP00000265963:R543C;ENSP00000433133:R231C;ENSP00000439774:R133C	ENSP00000265963:R543C	R	+	1	0	0	GTF2H1	18343972	18343972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_005316			25	25		137	134	0		1	1		0	0	32	0		9.999999e-01	9.999846e-01	0	27	0	75	0	25	137
TSG101	7251	broad.mit.edu	37	11	18536312	18536312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000251968.3	-	4	685	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000536719.1_Silent_p.K90K	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	90	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000251968.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(268-270)aaG>aaA		tumor susceptibility 101							156.0	168.0	164.0					11																	18536312		2199	4291	6490	SO:0001819	synonymous_variant	7251	0	0					g.chr11:18536312C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.270G>A	chr11.hg19:g.18536312C>T		0					TSG101_ENST00000536719.1_Silent_p.K90K|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	p.K90K	NM_006292.3	NP_006283.1	1	2	3	1.993097	Q99816	TS101_HUMAN		4	685	-			Q9BUM5	Silent	SNP	ENST00000251968.3	1	1	hg19	c.270G>A	CCDS7842.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	1	0	0		2	2	2	0		0	0	188		188	188	1	2.060000	-20.000000	1	0.170000	NM_006292			87	87		537	525	0		1	1		0	0	188	0		1	1	0	126	0	281	0	87	537
TSG101	7251	broad.mit.edu	37	11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000251968.3	-	4	669	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000536719.1_Missense_Mutation_p.P85H	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	85	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000251968.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(253-255)cCt>cAt		tumor susceptibility 101							151.0	164.0	160.0					11																	18536328		2199	4290	6489	SO:0001583	missense	7251	0	0					g.chr11:18536328G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.254C>A	chr11.hg19:g.18536328G>T	ENSP00000251968:p.Pro85His	0					TSG101_ENST00000536719.1_Missense_Mutation_p.P85H|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	p.P85H	NM_006292.3	NP_006283.1	1	2	3	1.993097	Q99816	TS101_HUMAN		4	669	-			Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	1	1	hg19	c.254C>A	CCDS7842.1	1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664400	0.67700	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.87179	-2.2;-2.22	5.78	5.78	0.91487	5.78	5.78	0.91487	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	-17.6356	20.0203	0.97492	0.0:0.0:1.0:0.0	.	85	Q99816	TS101_HUMAN	H	85	ENSP00000438471:P85H;ENSP00000251968:P85H	ENSP00000251968:P85H	P	-	2	0	0	TSG101	18492904	18492904	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.646000	0.98474	2.730000	0.93505	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	0	0	0		2	2	2	0		0	0	203		203	201	1	2.060000	-20.000000	1	0.170000	NM_006292			104	104		599	586	1		1	1		0	0	203	0		1	1	0	100	0	263	0	104	599
UEVLD	55293	broad.mit.edu	37	11	18557951	18557951	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368																																						ENST00000396197.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.e10+1		UEV and lactate/malate dehyrogenase domains							157.0	145.0	149.0					11																	18557951		2199	4293	6492	SO:0001630	splice_region_variant	55293	0	0					g.chr11:18557951A>G	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	ENST00000396197.3:c.1124+1T>C	chr11.hg19:g.18557951A>G		0					UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site		NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	1	2	3	1.993097				10	1153	-				Splice_Site	SNP	ENST00000396197.3	1	1	hg19		CCDS41624.1	1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309367	0.40895	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	UEVLD	18514527	18514527	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.689000	0.61723	2.167000	0.68274	0.374000	0.22700	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_018314	Intron		98	98		436	420	1		1	1		0	0	85	0		1	3.426720e-02	0	2	0	0	0	98	436
TMEM86A	144110	broad.mit.edu	37	11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000280734.2	+	2	122	c.26A>C	c.(25-27)aAg>aCg	p.K9T	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	9						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572																																						ENST00000280734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(25-27)aAg>aCg		transmembrane protein 86A							145.0	129.0	134.0					11																	18722484		2199	4293	6492	SO:0001583	missense	144110	0	0					g.chr11:18722484A>C	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.26A>C	chr11.hg19:g.18722484A>C	ENSP00000280734:p.Lys9Thr	0					TMEM86A_ENST00000527002.1_3'UTR	p.K9T	NM_153347.1	NP_699178.1	1	2	3	1.993097	Q8N2M4	TM86A_HUMAN		2	122	+			Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	1	1	hg19	c.26A>C	CCDS7844.1	1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716213	0.68844	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.29655	1.56	4.09	4.09	0.47781	4.09	4.09	0.47781	.	0.119442	0.56097	D	0.000028	T	0.48429	0.1499	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.45026	-0.9289	10	0.46703	T	0.11	-6.8659	8.3037	0.32029	0.9098:0.0:0.0902:0.0	.	9	Q8N2M4	TM86A_HUMAN	T	9	ENSP00000280734:K9T	ENSP00000280734:K9T	K	+	2	0	0	TMEM86A	18679060	18679060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.952000	0.75989	1.850000	0.53721	0.379000	0.24179	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_153347			141	138		529	516	1		1	1		0	0	108	0		1	9.995883e-01	0	6	0	39	0	141	529
TMEM86A	144110	broad.mit.edu	37	11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	183						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582																																						ENST00000280734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(547-549)gCa>gTa		transmembrane protein 86A							109.0	92.0	98.0					11																	18723381		2199	4293	6492	SO:0001583	missense	144110	0	0					g.chr11:18723381C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.548C>T	chr11.hg19:g.18723381C>T	ENSP00000280734:p.Ala183Val	0						p.A183V	NM_153347.1	NP_699178.1	1	2	3	1.993097	Q8N2M4	TM86A_HUMAN		3	644	+			Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	1	1	hg19	c.548C>T	CCDS7844.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499632	0.64298	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.38887	1.11	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.054144	0.64402	D	0.000001	T	0.72661	0.3488	M	0.92219	3.285	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.78866	-0.2035	9	.	.	.	-6.7924	19.428	0.94751	0.0:1.0:0.0:0.0	.	183	Q8N2M4	TM86A_HUMAN	V	183	ENSP00000280734:A183V	.	A	+	2	0	0	TMEM86A	18679957	18679957	1.000000	0.71417	0.426000	0.26672	0.055000	0.15305	7.307000	0.78920	2.824000	0.97209	0.655000	0.94253	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_153347			66	64		350	346	1		1	1		0	0	63	0		1	9.999728e-01	0	18	0	65	0	66	350
IGSF22	283284	broad.mit.edu	37	11	18729430	18729430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'Flank	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672										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						CTGAGTCAGAGCGCTTGGTGC	0.522																																						ENST00000513874.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999539	0.990000	1.000000																										0				56						c.(3199-3201)cgC>cgT		immunoglobulin superfamily, member 22							196.0	167.0	176.0					11																	18729430		692	1591	2283	SO:0001819	synonymous_variant	283284	0	0					g.chr11:18729430G>A	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.3201C>T	chr11.hg19:g.18729430G>A		0					IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	p.R1067R	NM_173588.3	NP_775859	1	2	3	1.993097	Q8N9C0	IGS22_HUMAN		20	3340	-			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	1	1	hg19	c.3201C>T	CCDS41625.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_173588			26	26		161	157	0		1	0		0	0	33	0		9.999999e-01	2.105263e-02	0	1	0	1	0	26	161
IGSF22	283284	broad.mit.edu	37	11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T	rs199982292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	214	Lys-rich.									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						CCCCGAAAGTCGGTGAAACCA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21333	0.0		0.002	False		,,,				2504	0.0					ENST00000513874.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(640-642)Gac>Aac		immunoglobulin superfamily, member 22		C	ASN/ASP	5,3725		0,5,1860	174.0	171.0	172.0		640	3.3	0.1	11		172	25,8191		0,25,4083	yes	missense	IGSF22	NM_173588.3	23	0,30,5943	TT,TC,CC		0.3043,0.134,0.2511	probably-damaging	214/1327	18741319	30,11916	1865	4108	5973	SO:0001583	missense	283284	515	120840	63				g.chr11:18741319C>T	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.640G>A	chr11.hg19:g.18741319C>T	ENSP00000421191:p.Asp214Asn	0					RP11-1081L13.4_ENST00000527285.1_RNA	p.D214N	NM_173588.3	NP_775859	1	2	3	1.993097	Q8N9C0	IGS22_HUMAN		7	779	-			A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	1	0	hg19	c.640G>A	CCDS41625.2	1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797221	0.70567	0.00134	0.003043	ENSG00000179057	ENST00000513874	T	0.60672	0.17	5.15	3.29	0.37713	5.15	3.29	0.37713	.	0.177861	0.26804	N	0.022415	T	0.51415	0.1673	M	0.78285	2.405	0.21064	N	0.999792	D	0.56521	0.976	B	0.41174	0.349	T	0.47471	-0.9115	10	0.24483	T	0.36	.	6.0508	0.19785	0.15:0.6882:0.0:0.1618	.	214	D6RGV7	.	N	214	ENSP00000421191:D214N	ENSP00000322422:D214N	D	-	1	0	0	IGSF22	18697895	18697895	0.804000	0.28969	0.134000	0.22075	0.949000	0.60115	1.415000	0.34748	0.578000	0.29487	0.650000	0.86243	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	0	1		2	2	2	0		0	0	193		193	192	1	2.060000	-3.105174	1	0.170000	NM_173588			218	217		934	919	1		1			0	0	193	0		1	0	0	0	0	0	0	218	934
MRGPRX1	259249	broad.mit.edu	37	11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						GGACAGGCAGCGCTCGGTGCT	0.587																																						ENST00000302797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(358-360)cGc>cAc		MAS-related GPR, member X1							94.0	86.0	89.0					11																	18955973		2194	4287	6481	SO:0001583	missense	259249	14	121268	42				g.chr11:18955973C>T		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.359G>A	chr11.hg19:g.18955973C>T	ENSP00000305766:p.Arg120His	0					MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	p.R120H	NM_147199.3	NP_671732.3	1	2	3	1.993097	Q96LB2	MRGX1_HUMAN		1	583	-			Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	1	1	hg19	c.359G>A	CCDS7846.1	1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228404	0.79576	.	.	ENSG00000170255	ENST00000302797	D	0.97161	-4.27	2.28	-1.11	0.09840	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.97754	0.9263	M	0.93150	3.385	0.24603	N	0.993768	D	0.56968	0.978	P	0.56398	0.797	D	0.94314	0.7548	10	0.87932	D	0	.	6.9697	0.24642	0.0:0.6113:0.0:0.3887	.	120	Q96LB2	MRGX1_HUMAN	H	120	ENSP00000305766:R120H	ENSP00000305766:R120H	R	-	2	0	0	MRGPRX1	18912549	18912549	0.057000	0.20700	0.039000	0.18376	0.683000	0.39861	1.610000	0.36869	-0.258000	0.09446	0.491000	0.48974	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_147199			110	110		506	498	1		1			0	0	107	0		1	0	0	0	0	0	0	110	506
E2F8	79733	broad.mit.edu	37	11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	E2F8_ENST00000250024.4_Missense_Mutation_p.A69V|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	69					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)			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						AGGGCTCACAGCACTGATGAG	0.512																																						ENST00000527884.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(205-207)gCt>gTt		E2F transcription factor 8							195.0	200.0	198.0					11																	19259489		2199	4293	6492	SO:0001583	missense	79733	0	0					g.chr11:19259489G>A		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.206C>T	chr11.hg19:g.19259489G>A	ENSP00000434199:p.Ala69Val	0					E2F8_ENST00000250024.4_Missense_Mutation_p.A69V|RP11-428C19.4_ENST00000527978.1_RNA	p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	1	2	3	1.993097	A0AVK6	E2F8_HUMAN		3	438	-			A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	1	1	hg19	c.206C>T	CCDS7849.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.408560	0.96051	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.60672	0.87;0.87;0.17	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.66056	D	0.02	-15.7278	19.0694	0.93126	0.0:0.0:1.0:0.0	.	69	A0AVK6	E2F8_HUMAN	V	69	ENSP00000434199:A69V;ENSP00000250024:A69V;ENSP00000437326:A69V	ENSP00000250024:A69V	A	-	2	0	0	E2F8	19216065	19216065	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.777000	0.99008	2.654000	0.90174	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	1	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-20.000000	1	0.170000	NM_024680			188	184		837	810	1		1	1		0	0	164	0		1	1.568407e-01	0	2	0	2	0	188	837
NAV2	89797	broad.mit.edu	37	11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T	rs376881740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396087.3	+	5	681	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	194	Gln-rich.				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)			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						agcagcagcagcagcagcccc	0.607																																						ENST00000396087.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(580-582)caG>caT		neuron navigator 2							51.0	57.0	55.0					11																	19901485		2198	4293	6491	SO:0001583	missense	89797	0	0					g.chr11:19901485G>T	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.582G>T	chr11.hg19:g.19901485G>T	ENSP00000379396:p.Gln194His	0					NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR	p.Q194H	NM_001244963.1	NP_001231892.1	1	2	3	1.993097	Q8IVL1	NAV2_HUMAN		5	681	+			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	1	1	hg19	c.582G>T	CCDS58126.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555291	0.86231	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.93	3.04	0.35103	5.93	3.04	0.35103	.	0.000000	0.53938	D	0.000048	T	0.56366	0.1980	N	0.22421	0.69	0.80722	D	1	D;P	0.63046	0.992;0.939	P;P	0.61658	0.892;0.687	T	0.51826	-0.8656	9	.	.	.	.	11.3753	0.49724	0.2009:0.0:0.7991:0.0	.	194;130	Q8IVL1-3;Q8IVL1-4	.;.	H	130;194;194;194;123;125	ENSP00000353871:Q130H;ENSP00000379394:Q194H;ENSP00000309577:Q194H;ENSP00000379396:Q194H;ENSP00000435395:Q123H;ENSP00000443489:Q125H	.	Q	+	3	2	2	NAV2	19858061	19858061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.847000	0.35167	0.561000	0.74099	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	0		2	2	2	0		0	0	103		103	107	1	2.060000	-20.000000	1	0.170000	NM_145117			99	97		413	436	0		1	0		0	0	103	0		1	4.795437e-01	0	0	0	8	0	99	413
NAV2	89797	broad.mit.edu	37	11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396087.3	+	5	837	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	246	Gln-rich.				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)			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						CGCCACATCAGCAGTCAAAAG	0.622																																						ENST00000396087.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(736-738)caG>caT		neuron navigator 2							35.0	33.0	34.0					11																	19901641		2198	4293	6491	SO:0001583	missense	89797	0	0					g.chr11:19901641G>T	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.738G>T	chr11.hg19:g.19901641G>T	ENSP00000379396:p.Gln246His	0					NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR	p.Q246H	NM_001244963.1	NP_001231892.1	1	2	3	1.993097	Q8IVL1	NAV2_HUMAN		5	837	+			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	1	1	hg19	c.738G>T	CCDS58126.1	1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715084	0.48622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28895	1.61;1.71;1.71;1.69;1.59;1.59	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.122438	0.37261	N	0.002163	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09840	-1.0656	9	.	.	.	.	7.7447	0.28862	0.0795:0.0:0.7134:0.2071	.	246;182	Q8IVL1-3;Q8IVL1-4	.;.	H	182;246;246;246;175;177	ENSP00000353871:Q182H;ENSP00000379394:Q246H;ENSP00000309577:Q246H;ENSP00000379396:Q246H;ENSP00000435395:Q175H;ENSP00000443489:Q177H	.	Q	+	3	2	2	NAV2	19858217	19858217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.358000	0.44134	2.710000	0.92621	0.561000	0.74099	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	0		2	2	2	0		0	0	27		27	23	1	2.060000	-20.000000	1	0.170000	NM_145117			35	35		144	138	1		1	0		0	0	27	0		1	2.615770e-01	0	1	0	4	0	35	144
NAV2	89797	broad.mit.edu	37	11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396087.3	+	9	2288	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396085.1_Missense_Mutation_p.G707E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	730					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)			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						ACCAAGACTGGACAGCCTGCT	0.532																																						ENST00000396087.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				116						c.(2188-2190)gGa>gAa		neuron navigator 2							137.0	105.0	116.0					11																	19961293		2199	4293	6492	SO:0001583	missense	89797	0	0					g.chr11:19961293G>A	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.2189G>A	chr11.hg19:g.19961293G>A	ENSP00000379396:p.Gly730Glu	0					NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000396085.1_Missense_Mutation_p.G707E	p.G730E	NM_001244963.1	NP_001231892.1	1	2	3	1.993097	Q8IVL1	NAV2_HUMAN		9	2288	+			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	1	1	hg19	c.2189G>A	CCDS58126.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132349	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.61;1.61	5.71	4.78	0.61160	5.71	4.78	0.61160	.	0.094301	0.46442	D	0.000290	T	0.28665	0.0710	L	0.44542	1.39	0.80722	D	1	B;B	0.21071	0.051;0.041	B;B	0.22753	0.041;0.031	T	0.03784	-1.1004	9	.	.	.	.	16.3163	0.82930	0.0:0.2485:0.7515:0.0	.	707;643	Q8IVL1-3;Q8IVL1-4	.;.	E	643;707;707;730;659;661	ENSP00000353871:G643E;ENSP00000379394:G707E;ENSP00000309577:G707E;ENSP00000379396:G730E;ENSP00000435395:G659E;ENSP00000443489:G661E	.	G	+	2	0	0	NAV2	19917869	19917869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	1.372000	0.46190	0.563000	0.77884	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_145117			30	30		134	131	0		1	0		0	0	34	0		1	1.627137e-01	0	0	0	4	0	30	134
NAV2	89797	broad.mit.edu	37	11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396087.3	+	15	3413	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000396085.1_Missense_Mutation_p.P1082L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1105					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)			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						AGGCTTTCTCCTAAAGCCTCC	0.542																																						ENST00000396087.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(3313-3315)cCt>cTt		neuron navigator 2							53.0	50.0	51.0					11																	20066559		2203	4300	6503	SO:0001583	missense	89797	0	0					g.chr11:20066559C>T	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.3314C>T	chr11.hg19:g.20066559C>T	ENSP00000379396:p.Pro1105Leu	0					NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Missense_Mutation_p.P1082L	p.P1105L	NM_001244963.1	NP_001231892.1	1	2	3	1.993097	Q8IVL1	NAV2_HUMAN		15	3413	+			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	1	1	hg19	c.3314C>T	CCDS58126.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404617	0.62288	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.39036	0.1063	N	0.24115	0.695	0.80722	D	1	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.166;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.108;0.999	T	0.08513	-1.0718	9	.	.	.	.	19.6575	0.95849	0.0:1.0:0.0:0.0	.	1105;168;168;1082;1018	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	L	1018;1082;1082;1105;1034;1036;168;168;168;168	ENSP00000353871:P1018L;ENSP00000379394:P1082L;ENSP00000309577:P1082L;ENSP00000379396:P1105L;ENSP00000435395:P1034L;ENSP00000443489:P1036L;ENSP00000437316:P168L;ENSP00000437136:P168L;ENSP00000312169:P168L	.	P	+	2	0	0	NAV2	20023135	20023135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.728000	0.93425	0.650000	0.86243	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_145117			58	56		236	232	1		1	0		0	0	60	0		1	7.583150e-01	0	0	0	13	0	58	236
NAV2	89797	broad.mit.edu	37	11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396087.3	+	24	5248	c.5149A>C	c.(5149-5151)Aat>Cat	p.N1717H	NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000396085.1_Missense_Mutation_p.N1661H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717					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)			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						GCTGACAGCAAATGTAAGTAC	0.507																																						ENST00000396087.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(5149-5151)Aat>Cat		neuron navigator 2							90.0	86.0	87.0					11																	20089942		2203	4300	6503	SO:0001583	missense	89797	0	0					g.chr11:20089942A>C	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.5149A>C	chr11.hg19:g.20089942A>C	ENSP00000379396:p.Asn1717His	0					NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000396085.1_Missense_Mutation_p.N1661H	p.N1717H	NM_001244963.1	NP_001231892.1	1	2	3	1.993097	Q8IVL1	NAV2_HUMAN		24	5248	+			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	1	1	hg19	c.5149A>C	CCDS58126.1	1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600692	0.87055	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	D	0.95414	0.8511	L	0.60067	1.865	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.989;0.991;1.0;0.999	D;D;P;D;D;D	0.80764	0.985;0.959;0.847;0.914;0.994;0.949	D	0.94978	0.8123	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1661;1717;725;710;1661;1597	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1597;1661;1661;1717;1646;1648;725;710;725;710	ENSP00000353871:N1597H;ENSP00000379394:N1661H;ENSP00000309577:N1661H;ENSP00000379396:N1717H;ENSP00000435395:N1646H;ENSP00000443489:N1648H;ENSP00000437316:N725H;ENSP00000437136:N710H;ENSP00000312169:N725H	.	N	+	1	0	0	NAV2	20046518	20046518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.060000	0.61445	0.454000	0.30748	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	0	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-20.000000	1	0.170000	NM_145117			75	75		328	323	1		1	0		0	0	116	0		1	6.366252e-01	0	0	0	11	0	75	328
HTATIP2	10553	broad.mit.edu	37	11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	rs148194087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000451739.2_Splice_Site_p.A101V|HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAGCTGGGGCGGTAAGGAAG	0.458																																						ENST00000532081.1	1.000000	0.190000	5.100000e-01	2.700000e-01	0.370000	0.410795	0.370000	0.360000																										0				8						c.(301-303)gCg>gTg		HIV-1 Tat interactive protein 2, 30kDa		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	251.0	244.0	247.0		404,302,302,302,302	5.6	1.0	11	dbSNP_134	247	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense,missense-near-splice	HTATIP2	NM_001098520.1,NM_001098521.1,NM_001098522.1,NM_001098523.1,NM_006410.4	64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	135/277,101/243,101/243,101/134,101/243	20388826	1,13005	2203	4300	6503	SO:0001583	missense	10553	6	121410	40				g.chr11:20388826C>T	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	ENST00000532081.1:c.302C>T	chr11.hg19:g.20388826C>T	ENSP00000432107:p.Ala101Val	0					HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V	p.A101V	NM_001098523.1	NP_001091993.1	1	2	3	1.993097				2	399	+				Missense_Mutation	SNP	ENST00000532081.1	1	1	hg19	c.302C>T	CCDS53613.1	0	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	0.0	1.16E-4	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32023	1.47;1.55;1.55;1.55;1.55;1.47;1.47;1.55	5.6	5.6	0.85130	5.6	5.6	0.85130	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.145254	0.64402	D	0.000008	T	0.35189	0.0923	L	0.36672	1.1	0.23823	N	0.996744	P;D;B	0.65815	0.813;0.995;0.42	B;P;B	0.54499	0.266;0.754;0.014	T	0.18304	-1.0341	10	0.30078	T	0.28	-15.037	12.1009	0.53783	0.1716:0.8283:0.0:0.0	.	101;101;135	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	V	101;101;101;135;101;101;101;101	ENSP00000436548:A101V;ENSP00000397752:A101V;ENSP00000387876:A101V;ENSP00000392985:A135V;ENSP00000394259:A101V;ENSP00000432338:A101V;ENSP00000432107:A101V;ENSP00000436729:A101V	ENSP00000392985:A135V	A	+	2	0	0	HTATIP2	20345402	20345402	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	3.083000	0.50136	2.633000	0.89246	0.555000	0.69702	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	HTATIP2-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387446.2	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.907640	1	0.170000	NM_001098521			11	11		348	340	0		1	1		0	0	60	0		9.981806e-01	9.993124e-01	0	31	0	384	0	11	348
HTATIP2	10553	broad.mit.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448																																						ENST00000451739.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				8						c.(580-582)tCt>tTt		HIV-1 Tat interactive protein 2, 30kDa							83.0	66.0	72.0					11																	20404603		2203	4300	6503	SO:0001583	missense	10553	0	0					g.chr11:20404603C>T	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.581C>T	chr11.hg19:g.20404603C>T	ENSP00000394259:p.Ser194Phe	0					HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F	p.S194F	NM_001098522.1	NP_001091992.1	1	2	3	1.993097				5	1022	+				Missense_Mutation	SNP	ENST00000451739.2	1	1	hg19	c.581C>T	CCDS7852.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	0	HTATIP2	20361179	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_001098521			28	28		124	121	1		1	1		0	0	34	0		1	1	0	81	0	232	0	28	124
PRMT3	10196	broad.mit.edu	37	11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	169					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398																																						ENST00000331079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(505-507)Gca>Aca		protein arginine methyltransferase 3							79.0	77.0	78.0					11																	20417453		2203	4300	6503	SO:0001583	missense	10196	0	0					g.chr11:20417453G>A	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.505G>A	chr11.hg19:g.20417453G>A	ENSP00000331879:p.Ala169Thr	0					PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	p.A169T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	1	2	3	1.993097	O60678	ANM3_HUMAN		6	722	+			B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	1	1	hg19	c.505G>A	CCDS7853.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372320	0.82573	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26810	1.71;1.71	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.045693	0.85682	D	0.000000	T	0.43634	0.1256	M	0.61703	1.905	0.58432	D	0.999999	P;D	0.69078	0.887;0.997	P;P	0.58210	0.69;0.835	T	0.06807	-1.0806	10	0.16896	T	0.51	-19.0595	19.6155	0.95632	0.0:0.0:1.0:0.0	.	107;169	O60678-2;O60678	.;ANM3_HUMAN	T	169;169;107	ENSP00000331879:A169T;ENSP00000397766:A107T	ENSP00000331879:A169T	A	+	1	0	0	PRMT3	20374029	20374029	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.473000	0.81007	2.801000	0.96364	0.650000	0.86243	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_005788			67	63		293	287	1		1	1		0	0	62	0		1	9.999971e-01	0	29	0	55	0	67	293
PRMT3	10196	broad.mit.edu	37	11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	530	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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACTTATGGTCTCCAGTGAAA	0.448																																						ENST00000331079.6	1.000000	0.330000	8.000000e-01	4.500000e-01	0.600000	0.628558	0.600000	0.580000																										0				17						c.(1588-1590)Ctc>Atc		protein arginine methyltransferase 3							82.0	71.0	74.0					11																	20529951		2203	4300	6503	SO:0001583	missense	10196	0	0					g.chr11:20529951C>A	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.1588C>A	chr11.hg19:g.20529951C>A	ENSP00000331879:p.Leu530Ile	0					PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	p.L530I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	1	2	3	1.993097	O60678	ANM3_HUMAN		16	1805	+			B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	1	1	hg19	c.1588C>A	CCDS7853.1	0	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452315	0.43531	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	T;T	0.32023	1.47;1.47	5.71	4.75	0.60458	5.71	4.75	0.60458	.	0.056069	0.64402	D	0.000001	T	0.32675	0.0837	L	0.60845	1.875	0.53005	D	0.999961	B;B	0.18741	0.03;0.01	B;B	0.29176	0.099;0.046	T	0.13953	-1.0490	10	0.52906	T	0.07	-11.2682	11.1838	0.48644	0.1831:0.8169:0.0:0.0	.	468;530	O60678-2;O60678	.;ANM3_HUMAN	I	530;468	ENSP00000331879:L530I;ENSP00000397766:L468I	ENSP00000331879:L530I	L	+	1	0	0	PRMT3	20486527	20486527	0.992000	0.36948	0.977000	0.42913	0.717000	0.41224	2.991000	0.49409	2.684000	0.91462	0.650000	0.86243	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.234627	1	0.170000	NM_005788			13	13		249	243	1		1	1		0	0	64	0		9.994997e-01	9.300662e-01	0	10	0	80	0	13	249
SLC6A5	9152	broad.mit.edu	37	11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A	rs570442943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	519					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.V519I(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)	TGCCGGCTTCGTCATCTTCTC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23498	0.0		0.0	False		,,,				2504	0.0					ENST00000525748.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V519I(1)	prostate(1)	63						c.(1555-1557)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						203.0	171.0	182.0					11																	20652292		2203	4300	6503	SO:0001583	missense	9152	3	121412	39				g.chr11:20652292G>A	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.1555G>A	chr11.hg19:g.20652292G>A	ENSP00000434364:p.Val519Ile	0					SLC6A5_ENST00000528440.1_3'UTR	p.V519I	NM_004211.3	NP_004202.2	1	2	3	1.993097	Q9Y345	SC6A5_HUMAN		10	1828	+			O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	1	1	hg19	c.1555G>A	CCDS7854.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930191	0.92389	.	.	ENSG00000165970	ENST00000525748	T	0.75589	-0.95	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	D	0.82912	0.5140	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83931	0.0306	10	0.72032	D	0.01	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	519	Q9Y345	SC6A5_HUMAN	I	519	ENSP00000434364:V519I	ENSP00000434364:V519I	V	+	1	0	0	SLC6A5	20608868	20608868	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	9.869000	0.99810	2.618000	0.88619	0.655000	0.94253	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_004211			108	110		442	434	1		1			0	0	98	0		1	0	0	0	0	0	0	108	442
NELL1	4745	broad.mit.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	rs140129150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000357134.5	+	8	994	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R309Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393																																						ENST00000357134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(841-843)cGa>cAa		NEL-like 1 (chicken)							127.0	120.0	123.0					11																	20948936		2203	4300	6503	SO:0001583	missense	4745	18	121412	48				g.chr11:20948936G>A	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.842G>A	chr11.hg19:g.20948936G>A	ENSP00000349654:p.Arg281Gln	0					NELL1_ENST00000298925.5_Missense_Mutation_p.R309Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q	p.R281Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	1	2	3	1.993097	Q92832	NELL1_HUMAN		8	994	+			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	1	1	hg19	c.842G>A	CCDS7855.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.076534	0.94000	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	5.7	0.88788	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.41824	1.3	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.987;0.999	D;D;P;D	0.80764	0.99;0.994;0.629;0.994	T	0.75158	-0.3416	10	0.30078	T	0.28	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	309;281;224;281	ENSP00000298925:R309Q;ENSP00000349654:R281Q;ENSP00000317837:R224Q;ENSP00000437170:R281Q	ENSP00000298925:R309Q	R	+	2	0	0	NELL1	20905512	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-3.197253	1	0.170000	NM_006157			62	62		265	262	1		1			0	0	50	0		1	0	0	0	0	0	0	62	265
NELL1	4745	broad.mit.edu	37	11	21581775	21581775	+	Silent	SNP	C	C	T	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000357134.5	+	17	1979	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000298925.5_Silent_p.N637N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	609	EGF-like 5; 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)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507																																						ENST00000357134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1825-1827)aaC>aaT		NEL-like 1 (chicken)		C	,	0,4406		0,0,2203	156.0	139.0	145.0		1827,1686	-0.5	1.0	11	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	609/811,562/764	21581775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4745	1	121408	42				g.chr11:21581775C>T	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.1827C>T	chr11.hg19:g.21581775C>T		0					NELL1_ENST00000298925.5_Silent_p.N637N|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Silent_p.N552N	p.N609N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	1	2	3	1.993097	Q92832	NELL1_HUMAN		17	1979	+			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	1	1	hg19	c.1827C>T	CCDS7855.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_006157			105	103		512	502	1		1			0	0	107	0		1	0	0	0	0	0	0	105	512
ANO5	203859	broad.mit.edu	37	11	22225378	22225378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	23					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)			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						ATATAGACTACTCTTTCCAAA	0.279																																						ENST00000324559.8	1.000000	0.460000	1	7.300000e-01	0.990000	0.902827	0.990000	1.000000																										0				63						c.(67-69)taC>taT		anoctamin 5							33.0	34.0	34.0					11																	22225378		2163	4255	6418	SO:0001819	synonymous_variant	203859	0	0					g.chr11:22225378C>T	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.69C>T	chr11.hg19:g.22225378C>T		0						p.Y23Y	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	1	2	3	1.993097	Q75V66	ANO5_HUMAN		2	386	+				Silent	SNP	ENST00000324559.8	1	1	hg19	c.69C>T	CCDS31444.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-11.231880	1	0.170000	NM_213599			6	6		61	58	1		1	0		0	0	30	0		9.622918e-01	3.184323e-02	0	0	0	3	0	6	61
ANO5	203859	broad.mit.edu	37	11	22283829	22283829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	595					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)			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						TATTTAATGAGTGGAGAAGTG	0.363																																						ENST00000324559.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1783-1785)gaG>gaA		anoctamin 5							103.0	103.0	103.0					11																	22283829		2203	4300	6503	SO:0001819	synonymous_variant	203859	0	0					g.chr11:22283829G>A	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.1785G>A	chr11.hg19:g.22283829G>A		0					CTD-3064C13.1_ENST00000526935.1_RNA	p.E595E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	1	2	3	1.993097	Q75V66	ANO5_HUMAN		16	2102	+				Silent	SNP	ENST00000324559.8	1	1	hg19	c.1785G>A	CCDS31444.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_213599			81	81		407	402	1		1	0		0	0	86	0		1	7.520678e-02	0	0	0	3	0	81	407
ANO5	203859	broad.mit.edu	37	11	22301230	22301230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	887					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)			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						TAAAAGAGAACTTGGGAATTA	0.353																																						ENST00000324559.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				63						c.(2659-2661)aaC>aaT		anoctamin 5							67.0	71.0	70.0					11																	22301230		2203	4299	6502	SO:0001819	synonymous_variant	203859	0	0					g.chr11:22301230C>T	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.2661C>T	chr11.hg19:g.22301230C>T		0						p.N887N	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	1	2	3	1.993097	Q75V66	ANO5_HUMAN		22	2978	+				Silent	SNP	ENST00000324559.8	1	1	hg19	c.2661C>T	CCDS31444.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_213599			39	39		236	232	1		1	0		0	0	67	0		1	5.747911e-02	0	0	0	3	0	39	236
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					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.G108G(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						ACCGCGGGGGCAAGGTCATCA	0.632																																						ENST00000263160.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G108G(1)	lung(1)	50						c.(322-324)ggC>ggT		solute carrier family 17 (vesicular glutamate transporter), member 6							62.0	52.0	56.0					11																	22363311		2203	4300	6503	SO:0001819	synonymous_variant	57084	0	0					g.chr11:22363311C>T	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.324C>T	chr11.hg19:g.22363311C>T		0						p.G108G	NM_020346.2	NP_065079.1	1	2	3	1.993097	Q9P2U8	VGLU2_HUMAN		2	761	+			A6NKS2	Silent	SNP	ENST00000263160.3	1	1	hg19	c.324C>T	CCDS7856.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_020346			59	59		286	284	1		1			0	0	67	0		1	0	0	0	0	0	0	59	286
SLC17A6	57084	broad.mit.edu	37	11	22381043	22381043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					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)			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						GATGTGTCATCTTTGTCAGAA	0.408																																						ENST00000263160.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				50						c.(541-543)atC>atA		solute carrier family 17 (vesicular glutamate transporter), member 6							153.0	138.0	143.0					11																	22381043		2203	4300	6503	SO:0001819	synonymous_variant	57084	0	0					g.chr11:22381043C>A	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.543C>A	chr11.hg19:g.22381043C>A		0					CTD-2140G10.4_ENST00000534543.1_RNA	p.I181I	NM_020346.2	NP_065079.1	1	2	3	1.993097	Q9P2U8	VGLU2_HUMAN		4	980	+			A6NKS2	Silent	SNP	ENST00000263160.3	1	1	hg19	c.543C>A	CCDS7856.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020346			36	36		216	210	1		1			0	0	44	0		1	0	0	0	0	0	0	36	216
GAS2	2620	broad.mit.edu	37	11	22696559	22696559	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Splice_Site_p.L48L|GAS2_ENST00000278187.3_Splice_Site_p.L48L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	48	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393																																						ENST00000454584.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				24						c.(142-144)ttA>ttG		growth arrest-specific 2							74.0	73.0	73.0					11																	22696559		2203	4300	6503	SO:0001630	splice_region_variant	2620	0	0					g.chr11:22696559A>G	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.145+1A>G	chr11.hg19:g.22696559A>G		0					GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000433790.1_Splice_Site_p.L48L	p.L48L	NM_001143830.1	NP_001137302.1	1	2	3	1.993097	O43903	GAS2_HUMAN		2	449	+			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	1	0	hg19	c.144A>G	CCDS7858.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_177553	Silent		33	33		159	154	1		1	0		0	0	43	0		1	1.457727e-01	0	0	0	4	0	33	159
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383																																						ENST00000454584.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(397-399)tCg>tTg		growth arrest-specific 2							143.0	148.0	146.0					11																	22747968		2203	4300	6503	SO:0001583	missense	2620	0	0					g.chr11:22747968C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.398C>T	chr11.hg19:g.22747968C>T	ENSP00000401145:p.Ser133Leu	0					GAS2_ENST00000278187.3_Missense_Mutation_p.S133L|GAS2_ENST00000433790.1_Missense_Mutation_p.S133L	p.S133L	NM_001143830.1	NP_001137302.1	1	2	3	1.993097	O43903	GAS2_HUMAN		4	703	+			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	1	1	hg19	c.398C>T	CCDS7858.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131593	0.56828	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;T;D;D;D;D	0.94537	-3.45;-3.45;0.99;-3.45;-3.45;-3.45;-3.45	5.74	4.83	0.62350	5.74	4.83	0.62350	Calponin homology domain (5);	0.131423	0.53938	D	0.000051	D	0.97526	0.9190	M	0.91140	3.18	0.58432	D	0.999995	D	0.67145	0.996	P	0.62491	0.903	D	0.98276	1.0506	10	0.72032	D	0.01	-10.6063	16.8958	0.86100	0.0:0.8719:0.1281:0.0	.	133	O43903	GAS2_HUMAN	L	133	ENSP00000432584:S133L;ENSP00000401145:S133L;ENSP00000434478:S133L;ENSP00000278187:S133L;ENSP00000433182:S133L;ENSP00000435946:S133L;ENSP00000396708:S133L	ENSP00000278187:S133L	S	+	2	0	0	GAS2	22704544	22704544	1.000000	0.71417	0.893000	0.35052	0.053000	0.15095	7.818000	0.86416	1.422000	0.47177	-0.172000	0.13284	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.110208	1	0.170000	NM_177553			84	82		375	366	1		1	0		0	0	74	0		1	1.580079e-01	0	0	0	4	0	84	375
GAS2	2620	broad.mit.edu	37	11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	225	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398																																						ENST00000454584.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(673-675)Cgg>Tgg		growth arrest-specific 2							81.0	80.0	80.0					11																	22777449		2203	4299	6502	SO:0001583	missense	2620	1	121406	26				g.chr11:22777449C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.673C>T	chr11.hg19:g.22777449C>T	ENSP00000401145:p.Arg225Trp	0					GAS2_ENST00000278187.3_Missense_Mutation_p.R225W|GAS2_ENST00000433790.1_Missense_Mutation_p.R225W	p.R225W	NM_001143830.1	NP_001137302.1	1	2	3	1.993097	O43903	GAS2_HUMAN		7	978	+			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	1	1	hg19	c.673C>T	CCDS7858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073711	0.76415	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51071	0.72;0.72;0.72	5.61	1.2	0.21068	5.61	1.2	0.21068	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.70595	2.14	0.53688	D	0.999979	D	0.89917	1.0	D	0.75020	0.985	T	0.68401	-0.5418	10	0.87932	D	0	-13.4615	15.0604	0.71947	0.6008:0.3992:0.0:0.0	.	225	O43903	GAS2_HUMAN	W	225	ENSP00000401145:R225W;ENSP00000278187:R225W;ENSP00000396708:R225W	ENSP00000278187:R225W	R	+	1	2	2	GAS2	22734025	22734025	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.064000	0.30579	-0.059000	0.13154	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.082184	1	0.170000	NM_177553			38	38		175	171	1		1	0		0	0	51	0		1	0	0	0	0	1	0	38	175
ANO3	63982	broad.mit.edu	37	11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000531646.1_Missense_Mutation_p.P32L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000537978.1_Missense_Mutation_p.P16L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	32					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)			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						TCGTTAAAACCGTCTCGGAGA	0.428																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(94-96)cCg>cTg		anoctamin 3							130.0	134.0	133.0					11																	26463513		2203	4300	6503	SO:0001583	missense	63982	1	121412	34				g.chr11:26463513C>T	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.95C>T	chr11.hg19:g.26463513C>T	ENSP00000256737:p.Pro32Leu	0					ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	p.P32L	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		2	947	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.95C>T	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439921	0.63067	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.19112	0.55	0.58432	D	0.999996	D	0.52996	0.957	B	0.41440	0.357	T	0.53865	-0.8378	10	0.49607	T	0.09	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	32	Q9BYT9	ANO3_HUMAN	L	16;16;32;32	ENSP00000440737:P16L;ENSP00000432576:P16L;ENSP00000256737:P32L;ENSP00000435275:P32L	ENSP00000256737:P32L	P	+	2	0	0	ANO3	26420089	26420089	0.995000	0.38212	0.981000	0.43875	0.633000	0.38033	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1		2	2	2	0		0	0	158		158	155	1	2.060000	-2.855727	1	0.170000	NM_031418			153	145		722	707	1		1	0		0	0	158	0		1	0	0	0	0	1	0	153	722
ANO3	63982	broad.mit.edu	37	11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000531646.1_Missense_Mutation_p.V91A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000537978.1_Missense_Mutation_p.V75A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	91					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)			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						AACGACTCTGTGCTGAGATGT	0.343																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999553	0.990000	1.000000																										0				68						c.(271-273)gTg>gCg		anoctamin 3							119.0	116.0	117.0					11																	26465342		2203	4300	6503	SO:0001583	missense	63982	0	0					g.chr11:26465342T>C	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.272T>C	chr11.hg19:g.26465342T>C	ENSP00000256737:p.Val91Ala	0					ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	p.V91A	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		3	1124	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.272T>C	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204778	0.22205	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	0.836	0.18891	4.72	0.836	0.18891	.	1.510040	0.03809	N	0.265637	T	0.40015	0.1100	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.05436	T	0.98	.	1.4041	0.02276	0.1765:0.1035:0.183:0.5369	.	91	Q9BYT9	ANO3_HUMAN	A	75;75;91;91	ENSP00000440737:V75A;ENSP00000432576:V75A;ENSP00000256737:V91A;ENSP00000435275:V91A	ENSP00000256737:V91A	V	+	2	0	0	ANO3	26421918	26421918	0.209000	0.23505	0.021000	0.16686	0.037000	0.13140	0.943000	0.29030	0.024000	0.15214	0.482000	0.46254	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-11.819260	1	0.170000	NM_031418			16	16		76	76	1		1			0	0	37	0		9.999612e-01	0	0	0	0	0	0	16	76
ANO3	63982	broad.mit.edu	37	11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	438					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)			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						TAAAGCCACTGAAGTCTTTAT	0.423																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1312-1314)Gaa>Aaa		anoctamin 3							168.0	173.0	171.0					11																	26574818		2203	4300	6503	SO:0001583	missense	63982	0	0					g.chr11:26574818G>A	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.1312G>A	chr11.hg19:g.26574818G>A	ENSP00000256737:p.Glu438Lys	0					ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR	p.E438K	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		13	2164	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.1312G>A	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859210	0.51376	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.41	5.59	4.62	0.57501	5.59	4.62	0.57501	.	0.112278	0.64402	D	0.000011	T	0.64907	0.2641	N	0.21508	0.67	0.44030	D	0.99675	B;B	0.32467	0.372;0.372	B;B	0.42959	0.209;0.403	T	0.62201	-0.6904	10	0.29301	T	0.29	.	15.9344	0.79691	0.0:0.1352:0.8648:0.0	.	340;438	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	422;422;438;340;292	ENSP00000440737:E422K;ENSP00000432576:E422K;ENSP00000256737:E438K;ENSP00000432394:E292K	ENSP00000256737:E438K	E	+	1	0	0	ANO3	26531394	26531394	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.229000	0.58625	2.633000	0.89246	0.637000	0.83480	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1		2	2	2	0		0	0	241		241	239	1	2.060000	-20.000000	1	0.170000	NM_031418			227	221		1021	986	1		1			0	0	241	0		1	0	0	0	0	0	0	227	1021
MUC15	143662	broad.mit.edu	37	11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000455601.2	-	4	1014	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	299					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)				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						GTAGTAGCTAGAATTCCCAAA	0.383																																						ENST00000455601.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(895-897)tCt>tAt		mucin 15, cell surface associated							154.0	139.0	144.0					11																	26582721		2203	4300	6503	SO:0001583	missense	143662	0	0					g.chr11:26582721G>T	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.896C>A	chr11.hg19:g.26582721G>T	ENSP00000397339:p.Ser299Tyr	0					ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron	p.S299Y	NM_145650.3	NP_663625.2	1	2	3	1.993097	Q8N387	MUC15_HUMAN		4	1014	-			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	1	1	hg19	c.896C>A	CCDS7859.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867333	0.72065	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.28255	1.64;1.62;1.63;1.62;1.63	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000143	T	0.43055	0.1230	L	0.32530	0.975	0.32851	D	0.506659	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.948;0.971	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.9456	12.5049	0.55975	0.0811:0.0:0.9189:0.0	.	276;299;326	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	299;326;276;326;276	ENSP00000397339:S299Y;ENSP00000416753:S326Y;ENSP00000281268:S276Y;ENSP00000431983:S326Y;ENSP00000431945:S276Y	ENSP00000281268:S276Y	S	-	2	0	0	MUC15	26539297	26539297	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.813000	0.55636	2.708000	0.92522	0.591000	0.81541	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_145650			52	52		189	186	1		1	0		0	0	49	0		1	4.708002e-01	0	0	0	7	0	52	189
ANO3	63982	broad.mit.edu	37	11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F	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)			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						TATAGCCACAGTCTTCCTGGA	0.318																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1453-1455)Gtc>Ttc		anoctamin 3							82.0	84.0	83.0					11																	26619917		2203	4299	6502	SO:0001583	missense	63982	0	0					g.chr11:26619917G>T	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.1453G>T	chr11.hg19:g.26619917G>T	ENSP00000256737:p.Val485Phe	0					ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F	p.V485F	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		15	2305	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.1453G>T	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723830	0.68959	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.45137	1.4	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.73708	0.981;0.667	T	0.72659	-0.4226	10	0.45353	T	0.12	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	387;485	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	469;469;485;387;339	ENSP00000440737:V469F;ENSP00000432576:V469F;ENSP00000256737:V485F;ENSP00000432394:V339F	ENSP00000256737:V485F	V	+	1	0	0	ANO3	26576493	26576493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_031418			74	70		351	347	1		1			0	0	83	0		1	0	0	0	0	0	0	74	351
ANO3	63982	broad.mit.edu	37	11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	505					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)			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						GGACCTTATCGAATGGGAAGA	0.393																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1513-1515)Gaa>Aaa		anoctamin 3							120.0	119.0	119.0					11																	26619977		2203	4299	6502	SO:0001583	missense	63982	0	0					g.chr11:26619977G>A	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.1513G>A	chr11.hg19:g.26619977G>A	ENSP00000256737:p.Glu505Lys	0					ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K	p.E505K	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		15	2365	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.1513G>A	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035474	0.75617	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.046152	0.85682	D	0.000000	T	0.47469	0.1447	N	0.08118	0	0.53005	D	0.999965	B;B	0.20671	0.028;0.047	B;B	0.19391	0.01;0.025	T	0.44065	-0.9352	10	0.59425	D	0.04	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	407;505	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	489;489;505;407;359	ENSP00000440737:E489K;ENSP00000432576:E489K;ENSP00000256737:E505K;ENSP00000432394:E359K	ENSP00000256737:E505K	E	+	1	0	0	ANO3	26576553	26576553	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	0		17	2	2	0		0	1	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_031418			81	80		382	372	1		1			0	0	95	0		1	0	0	0	0	0	0	81	382
ANO3	63982	broad.mit.edu	37	11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	521					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)			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						AAGCCAAGTATTACAAGATGG	0.393																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998901	0.990000	1.000000																										0				68						c.(1561-1563)taT>taG		anoctamin 3							73.0	66.0	68.0					11																	26620437		2203	4299	6502	SO:0001587	stop_gained	63982	0	0					g.chr11:26620437T>G	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.1563T>G	chr11.hg19:g.26620437T>G	ENSP00000256737:p.Tyr521*	0					ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*	p.Y521*	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		16	2415	+			B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	0	1	hg19	c.1563T>G	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	T	39	7.774718	0.98483	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.98	2.36	0.29203	5.98	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8325	0.35093	0.0:0.272:0.0:0.728	.	.	.	.	X	505;505;521;423;375	.	ENSP00000256737:Y521X	Y	+	3	2	2	ANO3	26577013	26577013	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.019000	0.30014	0.152000	0.19188	0.533000	0.62120	TAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-12.404620	1	0.170000	NM_031418			22	22		139	135	1		1			0	0	44	0		9.999990e-01	0	0	0	0	0	0	22	139
ANO3	63982	broad.mit.edu	37	11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000537978.1_Missense_Mutation_p.I803T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	819					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)			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						CTCGAAGGAATCGGTATATTG	0.348																																						ENST00000256737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2455-2457)aTc>aCc		anoctamin 3							133.0	126.0	129.0					11																	26669283		2203	4299	6502	SO:0001583	missense	63982	0	0					g.chr11:26669283T>C	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.2456T>C	chr11.hg19:g.26669283T>C	ENSP00000256737:p.Ile819Thr	0					ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T	p.I819T	NM_031418.2	NP_113606.2	1	2	3	1.993097	Q9BYT9	ANO3_HUMAN		24	3308	+			B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	1	1	hg19	c.2456T>C	CCDS31447.1	1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742311	0.69418	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.047425	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.986;0.991	D	0.88120	0.2831	10	0.87932	D	0	.	15.2657	0.73660	0.0:0.0:0.0:1.0	.	721;819	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	803;803;819;721;673	ENSP00000440737:I803T;ENSP00000432576:I803T;ENSP00000256737:I819T;ENSP00000432394:I673T	ENSP00000256737:I819T	I	+	2	0	0	ANO3	26625859	26625859	1.000000	0.71417	0.959000	0.39883	0.556000	0.35491	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	ATC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_031418			67	66		331	327	1		1			0	0	80	0		1	0	0	0	0	0	0	67	331
BDNF	627	broad.mit.edu	37	11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	64					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532																																						ENST00000525528.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(190-192)Gaa>Aaa		brain-derived neurotrophic factor							198.0	190.0	193.0					11																	27679922		2202	4299	6501	SO:0001583	missense	627	2	121412	36				g.chr11:27679922C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.190G>A	chr11.hg19:g.27679922C>T	ENSP00000437138:p.Glu64Lys	0					BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K	p.E64K	NM_170735.5	NP_733931.1	1	2	3	1.993097	P23560	BDNF_HUMAN		1	1283	-			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	1	1	hg19	c.190G>A	CCDS7866.1	1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446234	0.63178	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-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;-0.1;-0.1	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;0.992;0.995	D;D;D;D;D	0.85130	0.997;0.919;0.97;0.935;0.97	T	0.80056	-0.1542	10	0.87932	D	0	-18.7903	20.8598	0.99761	0.0:1.0:0.0:0.0	.	93;146;72;64;79	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	64;64;79;64;64;64;64;64;64;146;64;64;64;64;64;72;64;64	ENSP00000389345:E64K;ENSP00000437138:E64K;ENSP00000379309:E79K;ENSP00000432727:E64K;ENSP00000349084:E64K;ENSP00000400502:E64K;ENSP00000432376:E64K;ENSP00000435564:E64K;ENSP00000379307:E64K;ENSP00000414303:E146K;ENSP00000379304:E64K;ENSP00000435805:E64K;ENSP00000379305:E64K;ENSP00000379302:E64K;ENSP00000432035:E64K;ENSP00000320002:E72K;ENSP00000389564:E64K	ENSP00000320002:E72K	E	-	1	0	0	BDNF	27636498	27636498	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-3.331031	1	0.170000	NM_170735			137	136		656	640	1		1	1		0	0	154	0		1	8.816403e-01	0	3	0	17	0	137	656
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					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)			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)	ATACTCATTGCGCAAAGGGTC	0.478																																						ENST00000328224.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(646-648)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 4	Dalfampridine(DB06637)						70.0	65.0	67.0					11																	30033579		1862	4106	5968	SO:0001583	missense	3739	0	0					g.chr11:30033579C>T	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.647G>A	chr11.hg19:g.30033579C>T	ENSP00000328511:p.Arg216His	0					KCNA4_ENST00000526518.1_5'Flank	p.R216H	NM_002233.3	NP_002224.1	1	2	3	1.993097	P22459	KCNA4_HUMAN		2	1880	-				Missense_Mutation	SNP	ENST00000328224.6	1	1	hg19	c.647G>A	CCDS41629.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	0	KCNA4	29990155	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_002233			71	70		285	281	1		1			0	0	99	0		1	0	0	0	0	0	0	71	285
KCNA4	3739	broad.mit.edu	37	11	30033811	30033811	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139					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)			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)	TAGTAAAACCTTCcctcctct	0.552																																						ENST00000328224.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				78						c.(415-417)Agg>Cgg		potassium voltage-gated channel, shaker-related subfamily, member 4	Dalfampridine(DB06637)						51.0	51.0	51.0					11																	30033811		2193	4294	6487	SO:0001819	synonymous_variant	3739	0	0					g.chr11:30033811T>G	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.415A>C	chr11.hg19:g.30033811T>G		0					KCNA4_ENST00000526518.1_5'Flank	p.R139R	NM_002233.3	NP_002224.1	1	2	3	1.993097	P22459	KCNA4_HUMAN		2	1648	-				Silent	SNP	ENST00000328224.6	1	1	hg19	c.415A>C	CCDS41629.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_002233			41	41		217	211	1		1			0	0	56	0		1	0	0	0	0	0	0	41	217
KCNA4	3739	broad.mit.edu	37	11	30033990	30033990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033990C>T	ENST00000328224.6	-	2	1469	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	79					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)			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)	ACTACCCCGGCTGCTCTGAGG	0.652																																						ENST00000328224.6	1.000000	0.190000	4.800000e-01	2.600000e-01	0.350000	0.388606	0.350000	0.340000																										0				78						c.(235-237)aGc>aAc		potassium voltage-gated channel, shaker-related subfamily, member 4	Dalfampridine(DB06637)						42.0	44.0	44.0					11																	30033990		1993	4172	6165	SO:0001583	missense	3739	0	0					g.chr11:30033990C>T	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.236G>A	chr11.hg19:g.30033990C>T	ENSP00000328511:p.Ser79Asn	0					KCNA4_ENST00000526518.1_5'Flank	p.S79N	NM_002233.3	NP_002224.1	1	2	3	1.993097	P22459	KCNA4_HUMAN		2	1469	-				Missense_Mutation	SNP	ENST00000328224.6	0	1	hg19	c.236G>A	CCDS41629.1	0	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964396	0.53507	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	4.84	4.84	0.62591	.	5.024710	0.01841	U	0.035344	D	0.93785	0.8013	N	0.19112	0.55	0.52501	D	0.999956	B	0.15473	0.013	B	0.14023	0.01	T	0.63616	-0.6597	10	0.18276	T	0.48	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	79	P22459	KCNA4_HUMAN	N	79	ENSP00000328511:S79N	ENSP00000328511:S79N	S	-	2	0	0	KCNA4	29990566	29990566	0.994000	0.37717	0.098000	0.21074	0.950000	0.60333	3.249000	0.51437	2.239000	0.73571	0.561000	0.74099	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	0	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-12.135710	1	0.170000	NM_002233			13	12		434	420	0		1			0	0	79	0		9.994333e-01	0	0	0	0	0	0	13	434
FSHB	2488	broad.mit.edu	37	11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.G83S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GAGAGTGCCCGGCTGTGCTCA	0.507																																						ENST00000417547.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G83S(1)	haematopoietic_and_lymphoid_tissue(1)	12						c.(247-249)Ggc>Agc		follicle stimulating hormone, beta polypeptide							111.0	93.0	100.0					11																	30255204		2202	4299	6501	SO:0001583	missense	2488	1	121404	34				g.chr11:30255204G>A		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.247G>A	chr11.hg19:g.30255204G>A	ENSP00000416606:p.Gly83Ser	0					FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	p.G83S	NM_001018080.1	NP_001018090.1	1	2	3	1.993097	P01225	FSHB_HUMAN		3	286	+			A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	1	1	hg19	c.247G>A	CCDS7868.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.424409	0.96111	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	6.17	6.17	0.99709	Cystine knot (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92508	0.6014	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83	P01225	FSHB_HUMAN	S	83	ENSP00000254122:G83S;ENSP00000416606:G83S;ENSP00000433424:G83S	ENSP00000254122:G83S	G	+	1	0	0	FSHB	30211780	30211780	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.947000	0.75959	2.941000	0.99782	0.655000	0.94253	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_000510			55	51		225	221	1		1			0	0	63	0		1	0	0	0	0	0	0	55	225
DCDC1	341019	broad.mit.edu	37	11	30914541	30914541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	ENST00000597505.1	-	34	4896	c.4897C>T	c.(4897-4899)Cac>Tac	p.H1633Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					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)					TCAGAAAGGTGTGCCTGTCAA	0.373																																						ENST00000597505.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(4897-4899)Cac>Tac		doublecortin domain containing 1							119.0	113.0	115.0					11																	30914541		1843	4086	5929	SO:0001583	missense	341019	0	0					g.chr11:30914541G>A	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.4897C>T	chr11.hg19:g.30914541G>A	ENSP00000472625:p.His1633Tyr	0					DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y	p.H1633Y			1	2	3	1.993097	P59894	DCDC1_HUMAN		34	4896	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	1	0	hg19	c.4897C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046917	0.36085	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.94	5.03	0.67393	5.94	5.03	0.67393	.	.	.	.	.	T	0.57548	0.2061	L	0.35854	1.095	0.80722	D	1	.	.	.	.	.	.	T	0.59506	-0.7442	6	0.52906	T	0.07	.	12.2274	0.54468	0.079:0.0:0.921:0.0	.	.	.	.	Y	371	.	ENSP00000385936:H371Y	H	-	1	0	0	DCDC5	30871117	30871117	0.052000	0.20516	0.513000	0.27749	0.668000	0.39293	1.766000	0.38491	1.533000	0.49186	0.650000	0.86243	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_181807			82	82		314	311	1		1			0	0	58	0		1	0	0	0	0	0	0	82	314
DCDC1	341019	broad.mit.edu	37	11	30915873	30915873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	ENST00000597505.1	-	33	4814	c.4815G>A	c.(4813-4815)caG>caA	p.Q1605Q	DCDC1_ENST00000406071.2_Silent_p.Q343Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					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)					CCACCACGGGCTGCACAGGGC	0.488																																						ENST00000597505.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(4813-4815)caG>caA		doublecortin domain containing 1							69.0	72.0	71.0					11																	30915873		1926	4138	6064	SO:0001819	synonymous_variant	341019	0	0					g.chr11:30915873C>T	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.4815G>A	chr11.hg19:g.30915873C>T		0					DCDC1_ENST00000406071.2_Silent_p.Q343Q	p.Q1605Q			1	2	3	1.993097	P59894	DCDC1_HUMAN		33	4814	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	1	0	hg19	c.4815G>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_181807			54	51		286	282	1		1	0		0	0	61	0		1	0	0	0	0	1	0	54	286
DCDC1	341019	broad.mit.edu	37	11	30925196	30925196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30925196G>A	ENST00000597505.1	-	30	4342	c.4343C>T	c.(4342-4344)gCc>gTc	p.A1448V	DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V|DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	209					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)					GGCTGCTCTGGCAAGCCCAAG	0.443																																						ENST00000597505.1	1.000000	0.190000	8.900000e-01	3.400000e-01	0.560000	0.599835	0.560000	1.000000																										0				31						c.(4342-4344)gCc>gTc		doublecortin domain containing 1							51.0	47.0	48.0					11																	30925196		2202	4298	6500	SO:0001583	missense	341019	0	0					g.chr11:30925196G>A	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.4343C>T	chr11.hg19:g.30925196G>A	ENSP00000472625:p.Ala1448Val	0					DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V|DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V	p.A1448V			1	2	3	1.993097	P59894	DCDC1_HUMAN		30	4342	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	0	1	hg19	c.4343C>T		0	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160896	0.21538	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.93307	-3.2;-3.2	5.42	3.45	0.39498	5.42	3.45	0.39498	Doublecortin domain (2);	0.840570	0.10577	N	0.658408	D	0.90611	0.7056	L	0.55481	1.735	0.22034	N	0.999406	B	0.24258	0.1	B	0.24541	0.054	T	0.80897	-0.1177	10	0.38643	T	0.18	0.2236	9.4072	0.38469	0.0:0.1394:0.5725:0.2881	.	527	Q6ZRR9	DCDC5_HUMAN	V	183;527	ENSP00000385936:A183V;ENSP00000341700:A527V	ENSP00000341700:A527V	A	-	2	0	0	DCDC5	30881772	30881772	0.993000	0.37304	0.260000	0.24451	0.004000	0.04260	2.305000	0.43664	0.693000	0.31634	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-7.470573	1	0.170000	NM_181807			4	4		88	86	0		1	0		0	0	15	0		8.867188e-01	0	0	0	0	1	0	4	88
DCDC1	341019	broad.mit.edu	37	11	30938573	30938573	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	ENST00000597505.1	-	24	3295	c.3296A>C	c.(3295-3297)gAt>gCt	p.D1099A	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					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)					TACGTGTGAATCTCTATCAAG	0.408																																						ENST00000597505.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3295-3297)gAt>gCt		doublecortin domain containing 1							130.0	128.0	129.0					11																	30938573		2202	4299	6501	SO:0001583	missense	341019	0	0					g.chr11:30938573T>G	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.3296A>C	chr11.hg19:g.30938573T>G	ENSP00000472625:p.Asp1099Ala	0					DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A	p.D1099A			1	2	3	1.993097	P59894	DCDC1_HUMAN		24	3295	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	1	0	hg19	c.3296A>C		1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747505	0.49257	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000030	T	0.64000	0.2559	M	0.72479	2.2	0.29768	N	0.834983	D	0.69078	0.997	P	0.61397	0.888	T	0.66424	-0.5927	9	0.54805	T	0.06	-19.8465	13.3972	0.60861	0.0:0.0:0.0:1.0	.	178	Q6ZRR9	DCDC5_HUMAN	A	178	.	ENSP00000341700:D178A	D	-	2	0	0	DCDC5	30895149	30895149	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	2.938000	0.48987	2.140000	0.66376	0.459000	0.35465	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1		17	2	2	0		0	1	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_181807			94	94		383	374	1		1			0	0	93	0		1	0	0	0	0	0	0	94	383
DCDC1	341019	broad.mit.edu	37	11	30942422	30942422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30942422G>A	ENST00000597505.1	-	23	3193	c.3194C>T	c.(3193-3195)cCt>cTt	p.P1065L	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					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)					AATTGCTACAGGTTTATGCAC	0.383																																						ENST00000597505.1	1.000000	0.320000	1	5.100000e-01	0.770000	0.758877	0.770000	1.000000																										0				31						c.(3193-3195)cCt>cTt		doublecortin domain containing 1							138.0	113.0	121.0					11																	30942422		2202	4299	6501	SO:0001583	missense	341019	0	0					g.chr11:30942422G>A	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.3194C>T	chr11.hg19:g.30942422G>A	ENSP00000472625:p.Pro1065Leu	0					DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L	p.P1065L			1	2	3	1.993097	P59894	DCDC1_HUMAN		23	3193	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	0	1	hg19	c.3194C>T		0	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390640	0.42410	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	4.61	0.57282	5.52	4.61	0.57282	.	0.110346	0.40818	N	0.001020	T	0.56366	0.1980	M	0.72479	2.2	0.36860	D	0.888351	B	0.33748	0.423	B	0.34138	0.176	T	0.63998	-0.6510	9	0.46703	T	0.11	-10.0954	11.4354	0.50064	0.0844:0.0:0.9156:0.0	.	144	Q6ZRR9	DCDC5_HUMAN	L	144	.	ENSP00000341700:P144L	P	-	2	0	0	DCDC5	30898998	30898998	0.740000	0.28207	0.743000	0.31040	0.024000	0.10985	0.966000	0.29331	1.343000	0.45638	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-4.865649	1	0.170000	NM_181807			6	6		91	90	0		1	0		0	0	24	0		9.654478e-01	0	0	0	0	1	0	6	91
DCDC1	341019	broad.mit.edu	37	11	31115709	31115709	+	Missense_Mutation	SNP	T	T	C	rs538793008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	ENST00000597505.1	-	14	2005	c.2006A>G	c.(2005-2007)cAt>cGt	p.H669R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					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)					AACAGAGGCATGAAGGACAAT	0.433																																						ENST00000597505.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2005-2007)cAt>cGt		doublecortin domain containing 1							107.0	111.0	110.0					11																	31115709		2065	4227	6292	SO:0001583	missense	341019	0	0					g.chr11:31115709T>C	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.2006A>G	chr11.hg19:g.31115709T>C	ENSP00000472625:p.His669Arg	0					DCDC1_ENST00000437348.1_5'UTR	p.H669R			1	2	3	1.993097	P59894	DCDC1_HUMAN		14	2005	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	0	1	hg19	c.2006A>G		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_181807			66	66		282	278	0		1			0	0	69	0		1	0	0	0	0	0	0	66	282
DCDC1	341019	broad.mit.edu	37	11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000452803.1	-	7	1067	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000597505.1_Missense_Mutation_p.L289R	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	289					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)					CCTCTCAGTAAGTTTCTTCAT	0.378																																						ENST00000452803.1	1.000000	0.630000	1	7.800000e-01	0.940000	0.908286	0.940000	1.000000																										0				31						c.(865-867)cTt>cGt		doublecortin domain containing 1							84.0	85.0	85.0					11																	31312288		2202	4299	6501	SO:0001583	missense	341019	0	0					g.chr11:31312288A>C	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	ENST00000452803.1:c.866T>G	chr11.hg19:g.31312288A>C	ENSP00000389792:p.Leu289Arg	0					DCDC1_ENST00000597505.1_Missense_Mutation_p.L289R	p.L289R	NM_181807.3	NP_861523.2	1	2	3	1.993097	P59894	DCDC1_HUMAN		7	1067	-	Lung SC(675;0.225)		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	1	1	hg19	c.866T>G	CCDS7872.1	1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436480	0.62955	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.26	4.06	0.47325	5.26	4.06	0.47325	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.94095	0.8107	M	0.72894	2.215	0.27403	N	0.954804	D	0.59357	0.985	P	0.53760	0.734	D	0.89469	0.3742	10	0.87932	D	0	-21.493	10.7159	0.46013	0.8585:0.0:0.0:0.1415	.	289	P59894	DCDC1_HUMAN	R	289	ENSP00000389792:L289R	ENSP00000389792:L289R	L	-	2	0	0	DCDC1	31268864	31268864	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.673000	0.46858	2.105000	0.64084	0.533000	0.62120	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_181807			26	26		301	294	0		1			0	0	56	0		9.999999e-01	0	0	0	0	0	0	26	301
CCDC73	493860	broad.mit.edu	37	11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	836										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)					ACAATGTATGCTGTCTTTCAT	0.328																																						ENST00000335185.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2506-2508)caG>caT		coiled-coil domain containing 73							142.0	128.0	132.0					11																	32635356		1830	4087	5917	SO:0001583	missense	493860	0	0					g.chr11:32635356C>A	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.2508G>T	chr11.hg19:g.32635356C>A	ENSP00000335325:p.Gln836His	0					CCDC73_ENST00000534415.1_5'Flank	p.Q836H	NM_001008391.2	NP_001008392.2	1	2	3	1.993097	Q6ZRK6	CCD73_HUMAN		16	2551	-	Breast(20;0.112)		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	1	1	hg19	c.2508G>T	CCDS41630.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569548	0.45798	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	1.16	0.20824	5.64	1.16	0.20824	.	0.698226	0.13701	N	0.368828	T	0.32376	0.0827	L	0.59436	1.845	0.09310	N	1	B	0.25743	0.133	B	0.21917	0.037	T	0.39313	-0.9620	9	0.72032	D	0.01	.	1.192	0.01867	0.179:0.424:0.1191:0.278	.	836	Q6ZRK6	CCD73_HUMAN	H	836	.	ENSP00000335325:Q836H	Q	-	3	2	2	CCDC73	32591932	32591932	0.765000	0.28485	0.111000	0.21465	0.987000	0.75469	0.274000	0.18680	-0.055000	0.13244	0.650000	0.86243	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	1	0	0		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_001008391			112	111		524	519	1		1			0	0	120	0		1	0	0	0	0	0	0	112	524
CCDC73	493860	broad.mit.edu	37	11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	823										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)					AGGTCATTTTTTGTGGCTTCA	0.323																																						ENST00000335185.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2467-2469)Aaa>Caa		coiled-coil domain containing 73							130.0	114.0	119.0					11																	32635397		1818	4085	5903	SO:0001583	missense	493860	0	0					g.chr11:32635397T>G	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.2467A>C	chr11.hg19:g.32635397T>G	ENSP00000335325:p.Lys823Gln	0					CCDC73_ENST00000534415.1_5'Flank	p.K823Q	NM_001008391.2	NP_001008392.2	1	2	3	1.993097	Q6ZRK6	CCD73_HUMAN		16	2510	-	Breast(20;0.112)		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	1	1	hg19	c.2467A>C	CCDS41630.1	1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578306	0.45902	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	3.16	0.36331	5.64	3.16	0.36331	.	0.549721	0.17406	N	0.175351	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.09684	-1.0663	9	0.45353	T	0.12	.	7.0619	0.25131	0.0:0.0767:0.1469:0.7764	.	823	Q6ZRK6	CCD73_HUMAN	Q	823	.	ENSP00000335325:K823Q	K	-	1	0	0	CCDC73	32591973	32591973	0.380000	0.25131	0.064000	0.19789	0.885000	0.51271	1.191000	0.32138	0.918000	0.36919	0.528000	0.53228	AAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	0	0	0		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_001008391			99	99		455	444	1		1	0		0	0	110	0		1	0	0	0	0	1	0	99	455
QSER1	79832	broad.mit.edu	37	11	32955888	32955888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										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)					TCAGGCATGTGACTTCAGATT	0.373																																						ENST00000399302.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2695-2697)gtG>gtA		glutamine and serine rich 1							77.0	71.0	73.0					11																	32955888		1875	4119	5994	SO:0001819	synonymous_variant	79832	0	0					g.chr11:32955888G>A	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.2697G>A	chr11.hg19:g.32955888G>A		0					QSER1_ENST00000527788.1_Silent_p.V660V	p.V899V	NM_001076786.1	NP_001070254.1	1	2	3	1.993097	Q2KHR3	QSER1_HUMAN		4	3032	+	Breast(20;0.158)		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	1	1	hg19	c.2697G>A	CCDS41631.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-3.386347	1	0.170000	NM_024774			61	60		285	281	1		1	1		0	0	83	0		1	9.866400e-01	0	4	0	30	0	61	285
QSER1	79832	broad.mit.edu	37	11	32956758	32956758	+	Silent	SNP	C	C	A	rs375123573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1189										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)					CATTTTGTCCCCCACCACTTC	0.473																																						ENST00000399302.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(3565-3567)ccC>ccA		glutamine and serine rich 1							106.0	108.0	107.0					11																	32956758		1911	4108	6019	SO:0001819	synonymous_variant	79832	0	0					g.chr11:32956758C>A	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.3567C>A	chr11.hg19:g.32956758C>A		0					QSER1_ENST00000527788.1_Silent_p.P950P	p.P1189P	NM_001076786.1	NP_001070254.1	1	2	3	1.993097	Q2KHR3	QSER1_HUMAN		4	3902	+	Breast(20;0.158)		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	1	1	hg19	c.3567C>A	CCDS41631.1	1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495042	0.01009	.	.	ENSG00000060749	ENST00000524678	T	0.37752	1.18	5.31	2.36	0.29203	5.31	2.36	0.29203	.	0.177489	0.38548	N	0.001651	T	0.32376	0.0827	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	T	0.08973	-1.0696	7	0.37606	T	0.19	.	2.5447	0.04734	0.3181:0.4219:0.1144:0.1456	.	.	.	.	H	210	ENSP00000432136:P210H	ENSP00000432136:P210H	P	+	2	0	0	QSER1	32913334	32913334	0.087000	0.21565	0.998000	0.56505	0.227000	0.25037	-0.313000	0.08103	0.605000	0.29947	-0.373000	0.07131	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-2.873143	1	0.170000	NM_024774			104	103		414	404	1		1	1		0	0	110	0		1	9.902747e-01	0	3	0	28	0	104	414
QSER1	79832	broad.mit.edu	37	11	32979504	32979504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32979504C>A	ENST00000399302.2	+	8	4789	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1485										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)					TCCGTGAAACCCAAAGTTAAA	0.403																																						ENST00000399302.2	1.000000	0.140000	4.600000e-01	2.200000e-01	0.320000	0.359805	0.320000	0.300000																										0				48						c.(4453-4455)cCc>cAc		glutamine and serine rich 1							69.0	64.0	65.0					11																	32979504		1835	4090	5925	SO:0001583	missense	79832	0	0					g.chr11:32979504C>A	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.4454C>A	chr11.hg19:g.32979504C>A	ENSP00000382241:p.Pro1485His	0					QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	p.P1485H	NM_001076786.1	NP_001070254.1	1	2	3	1.993097	Q2KHR3	QSER1_HUMAN		8	4789	+	Breast(20;0.158)		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	0	1	hg19	c.4454C>A	CCDS41631.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497872|4.497872	0.85069|0.85069	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.33865|0.39787	1.72;1.39|1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.090600|0.090600	0.47455|0.47455	D|D	0.000238|0.000238	T|T	0.60038|0.60038	0.2238|0.2238	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;0.999|.	D;D;D|.	0.74348|.	0.983;0.971;0.936|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|8	0.87932|0.56958	D|D	0|0.05	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1246;1246;1485|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|T	1485;1246;1246|506	ENSP00000382241:P1485H;ENSP00000432766:P1246H|ENSP00000432136:P506T	ENSP00000078652:P1246H|ENSP00000432136:P506T	P|P	+|+	2|1	0|0	0|0	QSER1|QSER1	32936080|32936080	32936080|32936080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	6.838000|6.838000	0.75359|0.75359	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCC|CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-8.419546	1	0.170000	NM_024774			8	7		303	298	0		1	0		0	0	59	0		9.887477e-01	4.483028e-01	0	1	0	53	0	8	303
QSER1	79832	broad.mit.edu	37	11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1542										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)					TTTTTGAACACAAGAGCAATG	0.408																																						ENST00000399302.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4624-4626)aCa>aTa		glutamine and serine rich 1							124.0	117.0	119.0					11																	32987888		1839	4086	5925	SO:0001583	missense	79832	0	0					g.chr11:32987888C>T	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.4625C>T	chr11.hg19:g.32987888C>T	ENSP00000382241:p.Thr1542Ile	0					QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	p.T1542I	NM_001076786.1	NP_001070254.1	1	2	3	1.993097	Q2KHR3	QSER1_HUMAN		9	4960	+	Breast(20;0.158)		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	1	1	hg19	c.4625C>T	CCDS41631.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.001792|5.001792	0.93227|0.93227	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.50001	.|0.76;0.76	5.6|5.6	5.6|5.6	0.85130|0.85130	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.68586	.|0.3017	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.997;0.999	.|T	.|0.70230	.|-0.4929	.|10	.|0.87932	.|D	.|0	.|.	19.6126|19.6126	0.95616|0.95616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1303;1303;1542	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	X|I	563|1542;1303;1303	.|ENSP00000382241:T1542I;ENSP00000432766:T1303I	.|ENSP00000078652:T1303I	Q|T	+|+	1|2	0|0	0|0	QSER1|QSER1	32944464|32944464	32944464|32944464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.980000|6.980000	0.76160|0.76160	2.630000|2.630000	0.89119|0.89119	0.591000|0.591000	0.81541|0.81541	CAA|ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_024774			87	85		413	404	1		1	1		0	0	103	0		1	9.984751e-01	0	10	0	38	0	87	413
CSTF3	1479	broad.mit.edu	37	11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	438					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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328																																						ENST00000323959.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1312-1314)aaA>aaC		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							62.0	69.0	66.0					11																	33117913		2202	4296	6498	SO:0001583	missense	1479	0	0					g.chr11:33117913T>G	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.1314A>C	chr11.hg19:g.33117913T>G	ENSP00000315791:p.Lys438Asn	0					TCP11L1_ENST00000324357.9_Intron	p.K438N	NM_001326.2	NP_001317.1	1	2	3	1.993097	Q12996	CSTF3_HUMAN		15	1453	-			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	1	1	hg19	c.1314A>C	CCDS7883.1	1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543059	0.65198	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.91	3.7	0.42460	5.91	3.7	0.42460	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.90082	3.085	0.80722	D	1	P	0.51449	0.945	P	0.58331	0.837	T	0.69873	-0.5027	10	0.59425	D	0.04	.	12.8672	0.57946	0.0:0.7925:0.0:0.2075	.	438	Q12996	CSTF3_HUMAN	N	438;371	ENSP00000315791:K438N	ENSP00000315791:K438N	K	-	3	2	2	CSTF3	33074489	33074489	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.501000	0.35693	1.478000	0.48253	-0.467000	0.05162	AAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_001326			76	72		303	304	1		1	1		0	0	61	0		1	9.998732e-01	0	13	0	42	0	76	303
CSTF3	1479	broad.mit.edu	37	11	33123884	33123884	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	222					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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433																																						ENST00000323959.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(664-666)gAa>gCa		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							75.0	69.0	71.0					11																	33123884		2202	4298	6500	SO:0001630	splice_region_variant	1479	0	0					g.chr11:33123884T>G	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.664-1A>C	chr11.hg19:g.33123884T>G		0					TCP11L1_ENST00000324357.9_Intron	p.E222A	NM_001326.2	NP_001317.1	1	2	3	1.993097	Q12996	CSTF3_HUMAN		10	804	-			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Splice_Site	SNP	ENST00000323959.4	1	0	hg19	c.665A>C	CCDS7883.1	1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779812	0.70222	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.56199	1.76	0.80722	D	1	B	0.20780	0.048	B	0.26202	0.067	T	0.13255	-1.0516	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	222	Q12996	CSTF3_HUMAN	A	222;155	ENSP00000315791:E222A	ENSP00000315791:E222A	E	-	2	0	0	CSTF3	33080460	33080460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_001326	Missense_Mutation		68	65		173	169	1		1	1		0	0	42	0		1	9.999997e-01	0	15	0	47	0	68	173
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378																																						ENST00000303296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3073-3075)cGa>cAa		homeodomain interacting protein kinase 3							129.0	131.0	130.0					11																	33373714		2202	4298	6500	SO:0001583	missense	10114	0	0					g.chr11:33373714G>A	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.3074G>A	chr11.hg19:g.33373714G>A	ENSP00000304226:p.Arg1025Gln	0					HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	p.R1025Q	NM_005734.3	NP_005725.3	1	2	3	1.993097	Q9H422	HIPK3_HUMAN		16	3379	+			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	1	1	hg19	c.3074G>A	CCDS7884.1	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	0	HIPK3	33330290	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-3.411143	1	0.170000	NM_005734			183	182		788	776	1		1	1		0	0	140	0		1	1	0	32	0	151	0	183	788
CD59	966	broad.mit.edu	37	11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A	rs547970318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000395850.3	-	3	149	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	25					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473																																						ENST00000395850.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.994692	0.990000	1.000000																										0				3						c.(73-75)aGc>aTc		CD59 molecule, complement regulatory protein							94.0	83.0	86.0					11																	33739011		2202	4298	6500	SO:0001583	missense	966	0	0					g.chr11:33739011C>A		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.74G>T	chr11.hg19:g.33739011C>A	ENSP00000379191:p.Ser25Ile	0					CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I	p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	1	2	3	1.993097	P13987	CD59_HUMAN		3	149	-				Missense_Mutation	SNP	ENST00000395850.3	1	1	hg19	c.74G>T	CCDS7886.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259715	0.59321	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;D	0.94650	-3.41;-3.48;-1.61	3.99	2.04	0.26737	3.99	2.04	0.26737	.	0.707573	0.14322	N	0.326929	D	0.95909	0.8668	M	0.78049	2.395	0.09310	N	1	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.832	D	0.89626	0.3852	10	0.87932	D	0	-1.362	10.224	0.43214	0.0:0.6059:0.3941:0.0	.	25;25	E9PI80;P13987	.;CD59_HUMAN	I	25	ENSP00000432362:S25I;ENSP00000437122:S25I;ENSP00000436737:S25I	ENSP00000340210:S25I	S	-	2	0	0	CD59	33695587	33695587	0.008000	0.16893	0.053000	0.19242	0.344000	0.29017	0.941000	0.29005	0.603000	0.29913	0.561000	0.74099	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-19.999910	1	0.170000	NM_203329			15	15		100	99	1		1	1		0	0	31	0		9.999037e-01	1	0	369	0	2653	0	15	100
NAT10	55226	broad.mit.edu	37	11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000531159.2_Missense_Mutation_p.L753M|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	825	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			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)				CCTGAAGCGGCTGGAGATGTA	0.572																																						ENST00000257829.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2473-2475)Ctg>Atg		N-acetyltransferase 10 (GCN5-related)							122.0	103.0	109.0					11																	34162000		2202	4298	6500	SO:0001583	missense	55226	0	0					g.chr11:34162000C>A	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.2473C>A	chr11.hg19:g.34162000C>A	ENSP00000257829:p.Leu825Met	0					NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	p.L825M	NM_024662.2	NP_078938	1	2	3	1.993097	Q9H0A0	NAT10_HUMAN		24	2679	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	1	1	hg19	c.2473C>A	CCDS7889.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.60171	0.21;0.22	5.16	3.23	0.37069	5.16	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76526	-0.2927	10	0.66056	D	0.02	-13.7691	9.1058	0.36696	0.0:0.71:0.0:0.29	.	825	Q9H0A0	NAT10_HUMAN	M	825;753	ENSP00000257829:L825M;ENSP00000433011:L753M	ENSP00000257829:L825M	L	+	1	2	2	NAT10	34118576	34118576	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	1.525000	0.35953	1.292000	0.44672	0.467000	0.42956	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_024662			104	104		463	456	1		1	1		0	0	106	0		1	9.999999e-01	0	20	0	83	0	104	463
ABTB2	25841	broad.mit.edu	37	11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	814					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642																																						ENST00000435224.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2440-2442)tgC>tgA		ankyrin repeat and BTB (POZ) domain containing 2							90.0	88.0	88.0					11																	34181856		2202	4298	6500	SO:0001587	stop_gained	25841	0	0					g.chr11:34181856G>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2442C>A	chr11.hg19:g.34181856G>T	ENSP00000410157:p.Cys814*	0					ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	p.C814*	NM_145804.2	NP_665803.2	1	2	3	1.993097	Q8N961	ABTB2_HUMAN		12	2866	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	0	1	hg19	c.2442C>A	CCDS7890.2	1	.	.	.	.	.	.	.	.	.	.	G	43	10.293582	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6005	18.4941	0.90858	0.0:0.0:1.0:0.0	.	.	.	.	X	814;628	.	ENSP00000298992:C628X	C	-	3	2	2	ABTB2	34138432	34138432	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.740000	0.62087	2.370000	0.80446	0.561000	0.74099	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_145804			44	42		190	184	1		1	1		0	0	40	0		1	9.841550e-01	0	2	0	29	0	44	190
ABTB2	25841	broad.mit.edu	37	11	34194836	34194836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	421					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706																																						ENST00000435224.2	1.000000	0.460000	1	7.000000e-01	0.990000	0.891170	0.990000	1.000000																										0				25						c.(1261-1263)ccG>ccA		ankyrin repeat and BTB (POZ) domain containing 2							14.0	14.0	14.0					11																	34194836		2197	4297	6494	SO:0001819	synonymous_variant	25841	2	121040	30				g.chr11:34194836C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1263G>A	chr11.hg19:g.34194836C>T		0					ABTB2_ENST00000298992.2_Silent_p.P235P|ABTB2_ENST00000530814.1_5'UTR	p.P421P	NM_145804.2	NP_665803.2	1	2	3	1.993097	Q8N961	ABTB2_HUMAN		4	1687	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	0	1	hg19	c.1263G>A	CCDS7890.2	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-5.741535	1	0.170000	NM_145804			7	7		76	74	0		1	0		0	0	19	0		9.805084e-01	2.741457e-01	0	0	0	11	0	7	76
CAT	847	broad.mit.edu	37	11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	357					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)			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)	CCGCCTTTTTGCCTATCCTGA	0.473																																						ENST00000241052.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1069-1071)Gcc>Acc		catalase	Fomepizole(DB01213)						140.0	136.0	137.0					11																	34482810		2202	4298	6500	SO:0001583	missense	847	0	0					g.chr11:34482810G>A	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.1069G>A	chr11.hg19:g.34482810G>A	ENSP00000241052:p.Ala357Thr	0						p.A357T	NM_001752.3	NP_001743.1	1	2	3	1.993097	P04040	CATA_HUMAN		9	1158	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	1	1	hg19	c.1069G>A	CCDS7891.1	1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785119	0.49997	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	4.98	-2.58	0.06228	4.98	-2.58	0.06228	Catalase domain (1);Catalase, N-terminal (2);	0.178585	0.49916	D	0.000137	D	0.94162	0.8127	M	0.87682	2.9	0.41829	D	0.990061	P	0.37914	0.611	B	0.41860	0.368	D	0.92138	0.5718	10	0.72032	D	0.01	-9.7713	18.9336	0.92576	0.0:0.0:0.2394:0.7606	.	357	P04040	CATA_HUMAN	T	357	ENSP00000241052:A357T	ENSP00000241052:A357T	A	+	1	0	0	CAT	34439386	34439386	0.983000	0.35010	0.977000	0.42913	0.951000	0.60555	0.504000	0.22626	-0.437000	0.07243	-1.404000	0.01136	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_001752			118	115		573	563	1		1	1		0	0	136	0		1	1	0	61	0	201	0	118	573
CD44	960	broad.mit.edu	37	11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000428726.2	+	6	800	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	226	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GCTTTGATGAGCACTAGTGCT	0.373																																						ENST00000428726.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				23						c.(676-678)aGc>aTc		CD44 molecule (Indian blood group)	Hyaluronan(DB08818)						100.0	87.0	91.0					11																	35218302		2202	4298	6500	SO:0001583	missense	960	0	0					g.chr11:35218302G>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.677G>T	chr11.hg19:g.35218302G>T	ENSP00000398632:p.Ser226Ile	0					CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron	p.S226I	NM_000610.3	NP_000601.3	1	2	3	1.993097	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)	6	800	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	1	1	hg19	c.677G>T	CCDS7897.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.953|6.953	0.545717|0.545717	0.13312|0.13312	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.53|4.53	1.29|1.29	0.21616|0.21616	4.53|4.53	1.29|1.29	0.21616|0.21616	.|.	.|0.314365	.|0.23530	.|N	.|0.047198	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.40543|0.40543	1.245|1.245	0.51233|0.51233	D|D	0.999912|0.999912	.|B	.|0.14012	.|0.009	.|B	.|0.15870	.|0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.54805	.|T	.|0.06	-21.6781|-21.6781	6.578|6.578	0.22577|0.22577	0.0:0.1787:0.4537:0.3676|0.0:0.1787:0.4537:0.3676	.|.	.|226	.|P16070	.|CD44_HUMAN	S|I	94|226	.|ENSP00000414567:S226I;ENSP00000391008:S226I;ENSP00000403990:S226I;ENSP00000398632:S226I	.|ENSP00000398632:S226I	A|S	+|+	1|2	0|0	0|0	CD44|CD44	35174878|35174878	35174878|35174878	0.395000|0.395000	0.25254|0.25254	0.685000|0.685000	0.30070|0.30070	0.171000|0.171000	0.22731|0.22731	0.440000|0.440000	0.21592|0.21592	0.311000|0.311000	0.23014|0.23014	0.561000|0.561000	0.74099|0.74099	GCA|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_000610			30	30		128	127	1		1	1		0	0	48	0		1	9.999993e-01	0	56	0	48	0	30	128
CD44	960	broad.mit.edu	37	11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000428726.2	+	18	2247	c.2124A>T	c.(2122-2124)gaA>gaT	p.E708D	CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	708					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGTCTCAGGAAATGGTGCATT	0.498																																						ENST00000428726.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2122-2124)gaA>gaT		CD44 molecule (Indian blood group)	Hyaluronan(DB08818)						182.0	170.0	174.0					11																	35250775		2202	4298	6500	SO:0001583	missense	960	0	0					g.chr11:35250775A>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.2124A>T	chr11.hg19:g.35250775A>T	ENSP00000398632:p.Glu708Asp	0					CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y	p.E708D	NM_000610.3	NP_000601.3	1	2	3	1.993097	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)	18	2247	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	1	1	hg19	c.2124A>T	CCDS7897.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989376|3.989376	0.74589|0.74589	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000278385;ENST00000525469|ENST00000278386	T;T;T;T;T;T;T;T;T;T;T;T|T	0.56275|0.53423	1.47;1.41;1.64;1.37;1.88;1.54;1.46;1.21;1.02;1.6;0.82;0.47|0.62	5.93|5.93	0.878|0.878	0.19150|0.19150	5.93|5.93	0.878|0.878	0.19150|0.19150	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56804|0.56804	0.2010|0.2010	M|M	0.80847|0.80847	2.515|2.515	0.27384|0.27384	N|N	0.955334|0.955334	D;D;D;B;D;D|P	0.89917|0.51791	1.0;0.998;0.996;0.013;1.0;0.994|0.948	D;D;D;B;D;D|P	0.85130|0.50659	0.997;0.997;0.995;0.018;0.996;0.97|0.647	T|T	0.52533|0.52533	-0.8563|-0.8563	10|9	0.87932|0.87932	D|D	0|0	-13.3682|-13.3682	8.8766|8.8766	0.35350|0.35350	0.5752:0.0:0.4248:0.0|0.5752:0.0:0.4248:0.0	.|.	306;395;327;459;665;708|121	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|O95370	.;.;.;.;.;CD44_HUMAN|.	D|Y	327;665;680;665;640;362;708;459;395;306;151;256;227;48|121	ENSP00000263398:E327D;ENSP00000389830:E665D;ENSP00000414567:E680D;ENSP00000391008:E665D;ENSP00000403990:E640D;ENSP00000353280:E362D;ENSP00000398632:E708D;ENSP00000392331:E459D;ENSP00000404447:E395D;ENSP00000309732:E306D;ENSP00000279452:E256D;ENSP00000278385:E227D|ENSP00000278386:N121Y	ENSP00000263398:E327D|ENSP00000278386:N121Y	E|N	+|+	3|1	2|0	2|0	CD44|CD44	35207351|35207351	35207351|35207351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.898000|1.898000	0.39809|0.39809	0.235000|0.235000	0.21160|0.21160	-0.250000|-0.250000	0.11733|0.11733	GAA|AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_000610			107	106		489	479	1		1	1		0	0	124	0		1	1	0	418	0	1120	0	107	489
SLC1A2	6506	broad.mit.edu	37	11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	50				T -> Q (in Ref. 2; AAA18900). {ECO:0000305}.	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)			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)			ACCAAACACCGTCAGGGTGAG	0.622																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(148-150)aCg>aTg		solute carrier family 1 (glial high affinity glutamate transporter), member 2							86.0	84.0	85.0					11																	35338932		2202	4298	6500	SO:0001583	missense	6506	1	121412	26				g.chr11:35338932G>A	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.149C>T	chr11.hg19:g.35338932G>A	ENSP00000278379:p.Thr50Met	0					SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M	p.T50M	NM_004171.3	NP_004162.2	1	2	3	1.993097	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)	2	431	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	1	1	hg19	c.149C>T	CCDS31459.1	1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863853	0.71949	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.146157	0.64402	D	0.000009	T	0.78181	0.4243	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.981;1.0	T	0.82026	-0.0661	10	0.87932	D	0	-16.1262	18.1904	0.89805	0.0:0.0:1.0:0.0	.	50;50	B4DQE9;P43004	.;EAA2_HUMAN	M	50;41;41;46	ENSP00000278379:T50M;ENSP00000379099:T41M;ENSP00000379102:T41M;ENSP00000406133:T46M	ENSP00000278379:T50M	T	-	2	0	0	SLC1A2	35295508	35295508	1.000000	0.71417	0.941000	0.38009	0.422000	0.31414	9.750000	0.98875	2.286000	0.76751	0.561000	0.74099	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_004171			51	51		270	262	0		1			0	0	64	0		1	0	0	0	0	0	0	51	270
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453																																						ENST00000378880.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1078-1080)Ctt>Att		peptidase domain containing associated with muscle regeneration 1							165.0	158.0	160.0					11																	35461197		2202	4298	6500	SO:0001583	missense	25891	0	0					g.chr11:35461197G>T		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.1078C>A	chr11.hg19:g.35461197G>T	ENSP00000368158:p.Leu360Ile	0					PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I	p.L360I	NM_001001991.1	NP_001001991.1	1	2	3	1.993097	Q6UXH9	PAMR1_HUMAN		8	1523	-			A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	1	1	hg19	c.1078C>A	CCDS31460.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463058	0.84425	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88896	-2.3;-2.34;-2.44;-2.31;-2.27	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.87578	0.998;0.991;0.996	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	I	377;360;249;320;337	ENSP00000278360:L377I;ENSP00000368158:L360I;ENSP00000368156:L249I;ENSP00000433868:L320I;ENSP00000432591:L337I	ENSP00000278360:L377I	L	-	1	0	0	PAMR1	35417773	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_015430			86	83		399	395	1		1	0		0	0	92	0		1	9.999973e-01	0	0	0	87	0	86	399
LDLRAD3	143458	broad.mit.edu	37	11	36248778	36248778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36248778C>T	ENST00000315571.5	+	5	619	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	200					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGCGGAAGCGGAACAACCT	0.617																																						ENST00000315571.5	1.000000	0.280000	5.900000e-01	3.600000e-01	0.460000	0.491829	0.460000	0.450000																										0				28						c.(598-600)Cgg>Tgg		low density lipoprotein receptor class A domain containing 3							78.0	70.0	73.0					11																	36248778		2202	4298	6500	SO:0001583	missense	143458	6	121412	36				g.chr11:36248778C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.598C>T	chr11.hg19:g.36248778C>T	ENSP00000318607:p.Arg200Trp	0					LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000529759.1_3'UTR	p.R200W	NM_174902.2	NP_777562.1	1	2	3	1.993097	Q86YD5	LRAD3_HUMAN		5	619	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	1	1	hg19	c.598C>T	CCDS31462.1	0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218315	0.79464	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.95690	-3.78;-3.77;-3.6	5.07	1.95	0.26073	5.07	1.95	0.26073	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.36672	1.1	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.99	D	0.94432	0.7650	10	0.49607	T	0.09	.	13.9673	0.64216	0.4149:0.5851:0.0:0.0	.	190;151;200	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	W	151;190;200	ENSP00000433954:R151W;ENSP00000434313:R190W;ENSP00000318607:R200W	ENSP00000318607:R200W	R	+	1	2	2	LDLRAD3	36205354	36205354	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.100000	0.41777	0.489000	0.27749	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-4.144196	1	0.170000	NM_174902			18	18		451	444	0		1	0		0	0	73	0		9.999802e-01	3.116646e-01	0	0	0	28	0	18	451
PRR5L	79899	broad.mit.edu	37	11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A	rs376716246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000378867.3	+	3	498	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	48					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657																																						ENST00000378867.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997114	0.990000	1.000000																										0				19						c.(142-144)aGc>aAc		proline rich 5 like		G	ASN/SER,,ASN/SER,ASN/SER	0,4402		0,0,2201	27.0	26.0	26.0		143,,143,143	5.2	1.0	11		26	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense,missense	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	46,,46,46	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,,benign,benign	48/369,,48/206,48/369	36422814	1,12997	2201	4298	6499	SO:0001583	missense	79899	1	121404	19				g.chr11:36422814G>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.143G>A	chr11.hg19:g.36422814G>A	ENSP00000368144:p.Ser48Asn	0					PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N	p.S48N	NM_024841.4	NP_079117.3	1	2	3	1.993097	Q6MZQ0	PRR5L_HUMAN		3	498	+			A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	1	1	hg19	c.143G>A	CCDS31463.1	1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015551	0.54468	0.0	1.16E-4	ENSG00000135362	ENST00000530639;ENST00000532121;ENST00000526728;ENST00000311599;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.64991	1.52;1.52;1.52;1.76;1.52;-0.13;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.163476	0.56097	D	0.000033	T	0.46288	0.1385	L	0.27053	0.805	0.43255	D	0.995181	B;B	0.15473	0.003;0.013	B;B	0.15052	0.012;0.01	T	0.36553	-0.9743	10	0.14252	T	0.57	-18.1743	12.2157	0.54404	0.0774:0.0:0.9226:0.0	.	48;48	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	N	48;48;48;22;48;48;48;48;48;48;48	ENSP00000435050:S48N;ENSP00000433893:S48N;ENSP00000431610:S48N;ENSP00000310103:S22N;ENSP00000368144:S48N;ENSP00000433305:S48N;ENSP00000436485:S48N;ENSP00000431475:S48N;ENSP00000432203:S48N;ENSP00000436402:S48N;ENSP00000435241:S48N	ENSP00000310103:S22N	S	+	2	0	0	PRR5L	36379390	36379390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.440000	0.82611	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_024841			19	19		127	125	1		1	1		0	0	36	0		9.999931e-01	9.533806e-01	0	2	0	35	0	19	127
PRR5L	79899	broad.mit.edu	37	11	36484237	36484237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36484237C>T	ENST00000378867.3	+	10	1413	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	353					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGGGGGCCAGGGGCAGC	0.642																																						ENST00000378867.3	1.000000	0.140000	4.400000e-01	2.100000e-01	0.300000	0.343471	0.300000	0.290000																										0				19						c.(1057-1059)gCc>gTc		proline rich 5 like							30.0	31.0	31.0					11																	36484237		2184	4282	6466	SO:0001583	missense	79899	1	121118	28				g.chr11:36484237C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1058C>T	chr11.hg19:g.36484237C>T	ENSP00000368144:p.Ala353Val	0					PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V	p.A353V	NM_024841.4	NP_079117.3	1	2	3	1.993097	Q6MZQ0	PRR5L_HUMAN		10	1413	+			A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	0	1	hg19	c.1058C>T	CCDS31463.1	0	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223423	0.39300	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.80304	-1.36;-1.36;-1.36	5.41	-0.113	0.13568	5.41	-0.113	0.13568	.	2.381560	0.01509	N	0.017830	T	0.67249	0.2873	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.51188	-0.8737	10	0.24483	T	0.36	-7.0768	6.0317	0.19684	0.0:0.5007:0.2319:0.2674	.	225;353	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	V	353;280;353	ENSP00000435050:A353V;ENSP00000310103:A280V;ENSP00000368144:A353V	ENSP00000310103:A280V	A	+	2	0	0	PRR5L	36440813	36440813	0.000000	0.05858	0.002000	0.10522	0.885000	0.51271	1.128000	0.31369	0.246000	0.21394	0.555000	0.69702	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.282922	1	0.170000	NM_024841			8	8		320	320	0		1	0		0	0	34	0		9.895910e-01	1.989251e-01	0	0	0	30	0	8	320
RAG1	5896	broad.mit.edu	37	11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	384					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)			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)				GGAATCAAAAGAGATTTTTGT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1150-1152)Gag>Tag		recombination activating gene 1							44.0	48.0	46.0					11																	36596004		2202	4298	6500	SO:0001587	stop_gained	5896	0	0		Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	g.chr11:36596004G>T	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.1150G>T	chr11.hg19:g.36596004G>T	ENSP00000299440:p.Glu384*	0						p.E384*	NM_000448.2	NP_000439	1	2	3	1.993097	P15918	RAG1_HUMAN		2	1262	+	all_lung(20;0.226)	all_hematologic(20;0.107)	E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	0	1	hg19	c.1150G>T	CCDS7902.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697658	0.88830	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.61	0.57282	5.53	4.61	0.57282	.	0.169885	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5043	0.84266	0.0:0.131:0.869:0.0	.	.	.	.	X	384	.	ENSP00000299440:E384X	E	+	1	0	0	RAG1	36552580	36552580	1.000000	0.71417	0.744000	0.31058	0.777000	0.43975	3.788000	0.55446	1.340000	0.45581	0.650000	0.86243	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.264392	1	0.170000	NM_000448			77	77		338	331	1		1	0		0	0	74	0		1	3.535162e-02	0	0	0	2	0	77	338
LRRC4C	57689	broad.mit.edu	37	11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	491					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)				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)				GTGAGAGAGGTGGTCACATTG	0.512																																						ENST00000278198.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				86						c.(1471-1473)Acc>Ccc		leucine rich repeat containing 4C							143.0	116.0	125.0					11																	40136372		2203	4300	6503	SO:0001583	missense	57689	0	0					g.chr11:40136372T>G	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.1471A>C	chr11.hg19:g.40136372T>G	ENSP00000278198:p.Thr491Pro	0					LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P	p.T491P			1	2	3	1.993097	Q9HCJ2	LRC4C_HUMAN		2	3434	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	1	1	hg19	c.1471A>C	CCDS31464.1	1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576934	0.28092	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.048768	0.85682	D	0.000000	T	0.37571	0.1008	L	0.41710	1.295	0.58432	D	0.999996	B	0.18968	0.032	B	0.21151	0.033	T	0.10730	-1.0617	10	0.39692	T	0.17	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	491	Q9HCJ2	LRC4C_HUMAN	P	491	ENSP00000278198:T491P;ENSP00000436976:T491P;ENSP00000437132:T491P;ENSP00000434761:T491P	ENSP00000278198:T491P	T	-	1	0	0	LRRC4C	40092948	40092948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.228000	0.72767	0.533000	0.62120	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-19.065300	1	0.170000	NM_020929			38	35		217	212	1		1	0		0	0	34	0		1	4.051514e-01	0	0	0	9	0	38	217
LRRC4C	57689	broad.mit.edu	37	11	40136995	40136995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136995G>T	ENST00000278198.2	-	2	2811	c.848C>A	c.(847-849)cCt>cAt	p.P283H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	283					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)				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)				GAGGTCATGAGGCAGTAATGT	0.443																																						ENST00000278198.2	1.000000	0.150000	3.500000e-01	2.000000e-01	0.270000	0.304931	0.270000	0.260000																										0				86						c.(847-849)cCt>cAt		leucine rich repeat containing 4C							216.0	168.0	184.0					11																	40136995		2203	4300	6503	SO:0001583	missense	57689	0	0					g.chr11:40136995G>T	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.848C>A	chr11.hg19:g.40136995G>T	ENSP00000278198:p.Pro283His	0					LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H	p.P283H			1	2	3	1.993097	Q9HCJ2	LRC4C_HUMAN		2	2811	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	0	1	hg19	c.848C>A	CCDS31464.1	0	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286485	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00520	-1.1692	10	0.37606	T	0.19	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	283	Q9HCJ2	LRC4C_HUMAN	H	283	ENSP00000278198:P283H;ENSP00000436976:P283H;ENSP00000437132:P283H;ENSP00000434761:P283H	ENSP00000278198:P283H	P	-	2	0	0	LRRC4C	40093571	40093571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	0	0	1		2	2	2	0		0	0	138		138	134	1	2.060000	-2.683498	1	0.170000	NM_020929			16	16		701	684	0		1	0		0	0	138	0		9.999184e-01	1.737353e-03	0	0	0	3	0	16	701
API5	8539	broad.mit.edu	37	11	43342961	43342961	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000531273.1	+	4	465	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Splice_Site_p.D98A|API5_ENST00000534600.1_Splice_Site_p.D109A|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000378852.3_Splice_Site_p.D109A			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	109	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000531273.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(325-327)gAt>gCt		apoptosis inhibitor 5							58.0	60.0	59.0					11																	43342961		2203	4295	6498	SO:0001630	splice_region_variant	8539	0	0					g.chr11:43342961A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.326-1A>C	chr11.hg19:g.43342961A>C		0					API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000534600.1_Splice_Site_p.D109A|API5_ENST00000378852.3_Splice_Site_p.D109A|API5_ENST00000455725.2_Splice_Site_p.D98A	p.D109A			1	2	3	1.993097	Q9BZZ5	API5_HUMAN		4	465	+			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Splice_Site	SNP	ENST00000531273.1	1	0	hg19	c.326A>C	CCDS44572.1	1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779208	0.90195	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.86	5.86	0.93980	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.65975	2.015	0.80722	D	1	B;P;D;P	0.58620	0.117;0.896;0.983;0.873	B;P;P;B	0.60415	0.112;0.519;0.874;0.298	T	0.14699	-1.0463	9	.	.	.	.	15.989	0.80188	1.0:0.0:0.0:0.0	.	55;109;98;109	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	A	98;109;55;109;109	ENSP00000399341:D98A;ENSP00000431391:D109A;ENSP00000402540:D55A;ENSP00000368129:D109A;ENSP00000434462:D109A	.	D	+	2	0	0	API5	43299537	43299537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.489000	0.81451	2.261000	0.74972	0.529000	0.55759	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.999280	1	0.170000	NM_006595	Missense_Mutation		42	42		206	205	1		1	1		0	0	55	0		1	1	0	39	0	132	0	42	206
API5	8539	broad.mit.edu	37	11	43345051	43345051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000531273.1	+	6	754	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000378852.3_Silent_p.Q205Q			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	205	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000531273.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Deletion - In frame(1)	p.L204_S208delLQTVS(1)	prostate(1)	20						c.(613-615)caG>caA		apoptosis inhibitor 5							105.0	102.0	103.0					11																	43345051		2203	4300	6503	SO:0001819	synonymous_variant	8539	0	0					g.chr11:43345051G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.615G>A	chr11.hg19:g.43345051G>A		0					API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000378852.3_Silent_p.Q205Q|API5_ENST00000455725.2_Silent_p.Q194Q	p.Q205Q			1	2	3	1.993097	Q9BZZ5	API5_HUMAN		6	754	+			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	1	1	hg19	c.615G>A	CCDS44572.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_006595			88	87		437	430	1		1	1		0	0	101	0		1	1	0	65	0	169	0	88	437
API5	8539	broad.mit.edu	37	11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000531273.1	+	6	861	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000378852.3_Missense_Mutation_p.C241Y			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	241	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000531273.1	1.000000	0.670000	1	7.600000e-01	0.870000	0.876166	0.870000	1.000000																										0				20						c.(721-723)tGc>tAc		apoptosis inhibitor 5							137.0	135.0	136.0					11																	43345158		2203	4300	6503	SO:0001583	missense	8539	0	0					g.chr11:43345158G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.722G>A	chr11.hg19:g.43345158G>A	ENSP00000431391:p.Cys241Tyr	0					API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000378852.3_Missense_Mutation_p.C241Y|API5_ENST00000455725.2_Missense_Mutation_p.C230Y	p.C241Y			1	2	3	1.993097	Q9BZZ5	API5_HUMAN		6	861	+			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	1	1	hg19	c.722G>A	CCDS44572.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	T	0.60919	-0.7167	10	0.62326	D	0.03	-13.4804	19.6343	0.95724	0.0:0.0:1.0:0.0	.	187;241;230;241;241	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	Y	230;241;187;241;241;91	ENSP00000399341:C230Y;ENSP00000431391:C241Y;ENSP00000402540:C187Y;ENSP00000368129:C241Y;ENSP00000434462:C241Y;ENSP00000436436:C91Y	ENSP00000368129:C241Y	C	+	2	0	0	API5	43301734	43301734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-12.487300	1	0.170000	NM_006595			59	59		740	729	1		1	1		0	0	173	0		1	9.999993e-01	0	38	0	215	0	59	740
API5	8539	broad.mit.edu	37	11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000531273.1	+	10	1283	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.R371W|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000420461.2_Missense_Mutation_p.R328W|RP11-484D2.2_ENST00000526220.1_RNA|Y_RNA_ENST00000516843.1_RNA|API5_ENST00000378852.3_Missense_Mutation_p.R382W			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	382	Leucine-zipper.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000531273.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1144-1146)Cgg>Tgg		apoptosis inhibitor 5							82.0	82.0	82.0					11																	43351531		2203	4300	6503	SO:0001583	missense	8539	0	0					g.chr11:43351531C>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1144C>T	chr11.hg19:g.43351531C>T	ENSP00000431391:p.Arg382Trp	0					RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.R328W|Y_RNA_ENST00000516843.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000378852.3_Missense_Mutation_p.R382W|API5_ENST00000455725.2_Missense_Mutation_p.R371W	p.R382W			1	2	3	1.993097	Q9BZZ5	API5_HUMAN		10	1283	+			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	1	1	hg19	c.1144C>T	CCDS44572.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567229	0.45694	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.46	2.45	0.29901	5.46	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.057722	0.64402	D	0.000002	T	0.31071	0.0785	M	0.66297	2.02	0.50313	D	0.999863	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;0.995;0.986;0.992;0.998	T	0.02075	-1.1218	10	0.87932	D	0	-6.7078	9.0068	0.36117	0.3685:0.5638:0.0:0.0677	.	328;382;371;382;382	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	W	371;382;328;382;382;197	ENSP00000399341:R371W;ENSP00000431391:R382W;ENSP00000402540:R328W;ENSP00000368129:R382W;ENSP00000434462:R382W;ENSP00000436436:R197W	ENSP00000368129:R382W	R	+	1	2	2	API5	43308107	43308107	0.977000	0.34250	0.982000	0.44146	0.282000	0.26991	1.421000	0.34815	0.672000	0.31204	-0.119000	0.15052	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.575857	1	0.170000	NM_006595			55	55		211	210	1		1	1		0	0	55	0		1	1	0	59	0	171	0	55	211
TTC17	55761	broad.mit.edu	37	11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	249					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393																																						ENST00000039989.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				53						c.(745-747)gCc>gTc		tetratricopeptide repeat domain 17							138.0	126.0	130.0					11																	43418341		2202	4300	6502	SO:0001583	missense	55761	0	0					g.chr11:43418341C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.746C>T	chr11.hg19:g.43418341C>T	ENSP00000039989:p.Ala249Val	0					TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	p.A249V	NM_018259.5	NP_060729.2	1	2	3	1.993097	Q96AE7	TTC17_HUMAN		6	760	+			G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	1	1	hg19	c.746C>T	CCDS31466.1	1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398035	0.25205	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.54071	0.59;0.59	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.096585	0.64402	D	0.000001	T	0.38665	0.1049	N	0.11064	0.09	0.45227	D	0.998237	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.16722	0.005;0.007;0.016	T	0.13176	-1.0519	10	0.37606	T	0.19	-8.1257	19.5958	0.95536	0.0:1.0:0.0:0.0	.	249;249;249	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	249	ENSP00000299240:A249V;ENSP00000039989:A249V	ENSP00000039989:A249V	A	+	2	0	0	TTC17	43374917	43374917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.806000	0.96561	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.148621	1	0.170000	NM_018259			46	46		261	259	1		1	1		0	0	50	0		1	9.999738e-01	0	15	0	77	0	46	261
TTC17	55761	broad.mit.edu	37	11	43418898	43418898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	TTC17_ENST00000299240.6_Splice_Site_p.H259Y|RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	259					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438																																						ENST00000039989.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(775-777)Cac>Tac		tetratricopeptide repeat domain 17							154.0	128.0	137.0					11																	43418898		2203	4300	6503	SO:0001630	splice_region_variant	55761	0	0					g.chr11:43418898C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.774-1C>T	chr11.hg19:g.43418898C>T		0					TTC17_ENST00000299240.6_Splice_Site_p.H259Y|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	p.H259Y	NM_018259.5	NP_060729.2	1	2	3	1.993097	Q96AE7	TTC17_HUMAN		7	789	+			G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	1	0	hg19	c.775C>T	CCDS31466.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804898	0.70682	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.183710	0.64402	D	0.000012	T	0.38799	0.1054	N	0.19112	0.55	0.34736	D	0.730297	P;P;P	0.50443	0.824;0.545;0.935	B;B;B	0.43508	0.242;0.124;0.422	T	0.36768	-0.9734	10	0.21014	T	0.42	-12.6988	20.3206	0.98668	0.0:1.0:0.0:0.0	.	259;259;259	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	259	ENSP00000299240:H259Y;ENSP00000039989:H259Y	ENSP00000039989:H259Y	H	+	1	0	0	TTC17	43375474	43375474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.520000	0.60524	2.809000	0.96659	0.655000	0.94253	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_018259	Missense_Mutation		99	97		463	453	1		1	1		0	0	119	0		1	9.999958e-01	0	8	0	76	0	99	463
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408																																						ENST00000039989.4	1.000000	0.180000	7.200000e-01	3.000000e-01	0.470000	0.510049	0.470000	0.410000																										0				53						c.(1267-1269)tgC>tgT		tetratricopeptide repeat domain 17							132.0	116.0	122.0					11																	43423045		2203	4300	6503	SO:0001819	synonymous_variant	55761	0	0					g.chr11:43423045C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1269C>T	chr11.hg19:g.43423045C>T		0					TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	p.C423C	NM_018259.5	NP_060729.2	1	2	3	1.993097	Q96AE7	TTC17_HUMAN		10	1283	+			G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	0	1	hg19	c.1269C>T	CCDS31466.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-7.625296	1	0.170000	NM_018259			5	5		132	131	0		1	0		0	0	34	0		9.375179e-01	8.726744e-01	0	0	0	101	0	5	132
HSD17B12	51144	broad.mit.edu	37	11	43837021	43837021	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	142					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)			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(424-426)gaA>gaG		hydroxysteroid (17-beta) dehydrogenase 12							159.0	147.0	151.0					11																	43837021		2203	4300	6503	SO:0001819	synonymous_variant	51144	0	0					g.chr11:43837021A>G	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.426A>G	chr11.hg19:g.43837021A>G		0					HSD17B12_ENST00000529261.1_3'UTR	p.E142E	NM_016142.2	NP_057226.1	1	2	3	1.993097	Q53GQ0	DHB12_HUMAN		5	545	+			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	1	1	hg19	c.426A>G	CCDS7905.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				70	70		325	322	1		1	1		0	0	68	0		1	1	0	106	0	180	0	70	325
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	rs374220502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0					ENST00000378832.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(121-123)aCg>aTg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	MET/THR	1,4197		0,1,2098	48.0	54.0	52.0		122	-1.2	0.0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC		0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense	390110	22	121034	45				g.chr11:44069708C>T		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.122C>T	chr11.hg19:g.44069708C>T	ENSP00000368109:p.Thr41Met	0						p.T41M	NM_001031854.2	NP_001027025.2	1	2	3	1.993097	Q4AC99	1A1L2_HUMAN		1	178	+				Missense_Mutation	SNP	ENST00000378832.1	1	1	hg19	c.122C>T	CCDS41636.1	1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	0	ACCSL	44026284	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.592928	1	0.170000	NM_001031854			89	85		366	362	1		1			0	0	80	0		1	0	0	0	0	0	0	89	366
ACCSL	390110	broad.mit.edu	37	11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAAAGGTCCGAGGCCTTGTG	0.433																																						ENST00000378832.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(961-963)cGa>cAa		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							108.0	102.0	104.0					11																	44074969		1846	4083	5929	SO:0001583	missense	390110	1	120804	28				g.chr11:44074969G>A		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.962G>A	chr11.hg19:g.44074969G>A	ENSP00000368109:p.Arg321Gln	0						p.R321Q	NM_001031854.2	NP_001027025.2	1	2	3	1.993097	Q4AC99	1A1L2_HUMAN		8	1018	+				Missense_Mutation	SNP	ENST00000378832.1	1	1	hg19	c.962G>A	CCDS41636.1	1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933436	0.34096	.	.	ENSG00000205126	ENST00000378832	T	0.25749	1.78	4.45	-2.01	0.07410	4.45	-2.01	0.07410	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408973	0.27677	N	0.018317	T	0.48589	0.1508	M	0.89214	3.015	0.30832	N	0.736595	D	0.67145	0.996	D	0.68039	0.955	T	0.54132	-0.8339	10	0.72032	D	0.01	-0.7774	9.967	0.41730	0.6527:0.0:0.3473:0.0	.	321	Q4AC99	1A1L2_HUMAN	Q	321	ENSP00000368109:R321Q	ENSP00000368109:R321Q	R	+	2	0	0	ACCSL	44031545	44031545	0.998000	0.40836	0.132000	0.22025	0.002000	0.02628	0.541000	0.23207	-0.521000	0.06426	-0.140000	0.14226	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	0	0	1		14	2	2	1		1	1	74		74	74	1	2.060000	-3.021611	1	0.170000	NM_001031854			54	54		246	238	1		1			1	0	74	0		9.999999e-01	0	0	0	0	0	0	54	246
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542																																						ENST00000378832.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1516-1518)cGc>cAc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							110.0	111.0	111.0					11																	44080142		1879	4117	5996	SO:0001583	missense	390110	6	120824	40				g.chr11:44080142G>A		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.1517G>A	chr11.hg19:g.44080142G>A	ENSP00000368109:p.Arg506His	0						p.R506H	NM_001031854.2	NP_001027025.2	1	2	3	1.993097	Q4AC99	1A1L2_HUMAN		13	1573	+				Missense_Mutation	SNP	ENST00000378832.1	1	1	hg19	c.1517G>A	CCDS41636.1	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	0	ACCSL	44036718	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_001031854			99	99		476	464	1		1			0	0	128	0		1	0	0	0	0	0	0	99	476
ACCS	84680	broad.mit.edu	37	11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	484					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAAATCCCAAGTGGCAGAAGA	0.627																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8	1.000000	0.320000	8.600000e-01	4.500000e-01	0.620000	0.650190	0.620000	1.000000																										0				35						c.(1450-1452)Gtg>Ttg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							51.0	48.0	49.0					11																	44105286		2203	4300	6503	SO:0001583	missense	84680	0	0					g.chr11:44105286G>T	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.1450G>T	chr11.hg19:g.44105286G>T	ENSP00000263776:p.Val484Leu	0						p.V484L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	1	2	3	1.993097	Q96QU6	1A1L1_HUMAN		15	1884	+			B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	1	1	hg19	c.1450G>T	CCDS7907.1	0	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324563	0.10900	.	.	ENSG00000110455	ENST00000263776	T	0.59772	0.24	5.38	1.32	0.21799	5.38	1.32	0.21799	.	1.269890	0.05154	N	0.496626	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.28530	T	0.3	-1.5062	5.4491	0.16552	0.2467:0.1441:0.6092:0.0	.	484	Q96QU6	1A1L1_HUMAN	L	484	ENSP00000263776:V484L	ENSP00000263776:V484L	V	+	1	0	0	ACCS	44061862	44061862	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.052000	0.16007	-0.140000	0.14226	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-13.149580	1	0.170000	NM_032592			10	10		186	185	0		1	1		0	0	34	0		9.970317e-01	3.634172e-01	0	2	0	21	0	10	186
EXT2	2132	broad.mit.edu	37	11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000343631.3	+	2	232	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	35					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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000343631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Multiple Exostoses Type 2	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	11p12-p11	2132	Mis, N, F, S	multiple exostoses type 2 gene				M	M		exostoses, osteosarcoma			0				32						c.(103-105)Ctg>Atg		exostosin glycosyltransferase 2							167.0	173.0	171.0					11																	44129365		2203	4300	6503	SO:0001583	missense	2132	0	0		Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr11:44129365C>A		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.103C>A	chr11.hg19:g.44129365C>A	ENSP00000342656:p.Leu35Met	0					EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M|EXT2_ENST00000533608.1_Missense_Mutation_p.L35M	p.L35M			1	2	3	1.993097	Q93063	EXT2_HUMAN		2	232	+			B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	1	1	hg19	c.103C>A	CCDS7908.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755661	0.49362	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.45	3.58	0.41010	5.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D	0.65815	0.974;0.991;0.995;0.98;0.98	P;P;P;P;P	0.60886	0.758;0.762;0.88;0.674;0.674	T	0.69537	-0.5119	10	0.72032	D	0.01	0.1963	12.1929	0.54280	0.0:0.8608:0.0:0.1392	.	35;35;35;35;48	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	35;35;35;35;68;35	ENSP00000431173:L35M;ENSP00000433827:L35M;ENSP00000434716:L35M;ENSP00000351509:L35M;ENSP00000379032:L68M;ENSP00000342656:L35M	ENSP00000342656:L35M	L	+	1	2	2	EXT2	44085941	44085941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.682000	0.31407	0.650000	0.86243	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	1	0	1		16	2	2	0		0	1	102		102	101	1	2.060000	-2.997862	1	0.170000	NM_000401			84	82		368	359	1		1	1		0	0	102	0		1	1	0	47	0	162	0	84	368
EXT2	2132	broad.mit.edu	37	11	44148421	44148421	+	Missense_Mutation	SNP	G	G	T	rs148493676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44148421G>T	ENST00000343631.3	+	6	1124	c.995G>T	c.(994-996)aGc>aTc	p.S332I	EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000395673.3_Missense_Mutation_p.S365I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	332					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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCAGTATTGAGCGATGTGTTA	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000343631.3	1.000000	0.100000	2.500000e-01	1.300000e-01	0.180000	0.221140	0.180000	0.180000			yes	Rec		Multiple Exostoses Type 2	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	11p12-p11	2132	Mis, N, F, S	multiple exostoses type 2 gene				M	M		exostoses, osteosarcoma			0				32						c.(994-996)aGc>aTc		exostosin glycosyltransferase 2							301.0	274.0	283.0					11																	44148421		2203	4299	6502	SO:0001583	missense	2132	0	0		Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr11:44148421G>T		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.995G>T	chr11.hg19:g.44148421G>T	ENSP00000342656:p.Ser332Ile	0					EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000395673.3_Missense_Mutation_p.S365I|EXT2_ENST00000533608.1_Missense_Mutation_p.S332I	p.S332I			1	2	3	1.993097	Q93063	EXT2_HUMAN		6	1124	+			B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	0	1	hg19	c.995G>T	CCDS7908.1	0	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736694	0.49045	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	L	0.35593	1.075	0.80722	D	1	D;B;B;B;B	0.53619	0.961;0.127;0.104;0.21;0.21	P;B;B;B;B	0.55508	0.777;0.173;0.108;0.042;0.042	D	0.95629	0.8688	10	0.32370	T	0.25	-23.4442	19.9598	0.97242	0.0:0.0:1.0:0.0	.	332;332;332;332;345	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	332;332;365;332	ENSP00000431173:S332I;ENSP00000351509:S332I;ENSP00000379032:S365I;ENSP00000342656:S332I	ENSP00000342656:S332I	S	+	2	0	0	EXT2	44104997	44104997	1.000000	0.71417	0.994000	0.49952	0.356000	0.29392	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	0	0	0		2	2	2	0		0	0	147		147	147	1	2.060000	-3.320005	1	0.170000	NM_000401			14	14		910	890	0		1	1		0	0	147	0		9.997099e-01	9.190412e-01	0	5	0	278	0	14	910
EXT2	2132	broad.mit.edu	37	11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000343631.3	+	11	1798	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	557					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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000343631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Multiple Exostoses Type 2	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	11p12-p11	2132	Mis, N, F, S	multiple exostoses type 2 gene				M	M		exostoses, osteosarcoma			0				32	GRCh37	CD010608	EXT2	D		c.(1669-1671)Cgg>Tgg		exostosin glycosyltransferase 2							129.0	115.0	120.0					11																	44253909		2203	4299	6502	SO:0001583	missense	2132	3	121412	34	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr11:44253909C>T		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.1669C>T	chr11.hg19:g.44253909C>T	ENSP00000342656:p.Arg557Trp	0					EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W|EXT2_ENST00000533608.1_Missense_Mutation_p.R557W	p.R557W			1	2	3	1.993097	Q93063	EXT2_HUMAN		11	1798	+			B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	1	1	hg19	c.1669C>T	CCDS7908.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.08	4.14	0.48551	5.08	4.14	0.48551	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.91300	3.195	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;0.998;0.999;0.997	D	0.94999	0.8141	10	0.87932	D	0	-6.3232	13.2204	0.59883	0.2891:0.7108:0.0:0.0	.	557;567;567;557;570	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	557;567;590;557	ENSP00000431173:R557W;ENSP00000351509:R567W;ENSP00000379032:R590W;ENSP00000342656:R557W	ENSP00000342656:R557W	R	+	1	2	2	EXT2	44210485	44210485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.843000	0.62838	1.093000	0.41377	0.591000	0.81541	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.135243	1	0.170000	NM_000401			52	50		234	224	1		1	1		0	0	50	0		1	1	0	61	0	236	0	52	234
ALX4	60529	broad.mit.edu	37	11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	241					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612																																						ENST00000329255.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(721-723)Gtg>Atg		ALX homeobox 4							108.0	107.0	107.0					11																	44296954		2203	4299	6502	SO:0001583	missense	60529	1	121412	38				g.chr11:44296954C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.721G>A	chr11.hg19:g.44296954C>T	ENSP00000332744:p.Val241Met	0						p.V241M	NM_021926.3	NP_068745.2	1	2	3	1.993097	Q9H161	ALX4_HUMAN		2	824	-			Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	1	1	hg19	c.721G>A	CCDS31468.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045191	0.75846	.	.	ENSG00000052850	ENST00000329255	D	0.96265	-3.96	3.74	3.74	0.42951	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136421	0.48767	D	0.000171	D	0.97879	0.9303	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97755	1.0217	10	0.38643	T	0.18	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	241	Q9H161	ALX4_HUMAN	M	241	ENSP00000332744:V241M	ENSP00000332744:V241M	V	-	1	0	0	ALX4	44253530	44253530	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1	1	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-20.000000	1	0.170000				159	157		683	674	1		1			0	0	148	0		1	0	0	0	0	0	0	159	683
PRDM11	56981	broad.mit.edu	37	11	45246288	45246288	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000530656.1	+	7	1365	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	PRDM11_ENST00000424263.2_Silent_p.V421V|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Silent_p.V455V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	455							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000530656.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1363-1365)gtT>gtC		PR domain containing 11							178.0	189.0	185.0					11																	45246288		2203	4299	6502	SO:0001819	synonymous_variant	56981	0	0					g.chr11:45246288T>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1365T>C	chr11.hg19:g.45246288T>C		0					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Silent_p.V421V|PRDM11_ENST00000263765.4_Silent_p.V455V	p.V455V			1	2	3	1.993097	Q9NQV5	PRD11_HUMAN		7	1365	+			Q8N9F1	Silent	SNP	ENST00000530656.1	1	1	hg19	c.1365T>C		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	1	0	1		2	2	2	0		0	0	317		317	316	1	2.060000	-20.000000	1	0.170000	NM_020229			280	279		1246	1223	1		1	0		0	0	317	0		1	3.382897e-02	0	0	0	2	0	280	1246
SYT13	57586	broad.mit.edu	37	11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	402					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647																																						ENST00000020926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1204-1206)tCt>tAt		synaptotagmin XIII							63.0	65.0	64.0					11																	45265679		2203	4299	6502	SO:0001583	missense	57586	0	0					g.chr11:45265679G>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1205C>A	chr11.hg19:g.45265679G>T	ENSP00000020926:p.Ser402Tyr	0						p.S402Y	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	1	2	3	1.993097	Q7L8C5	SYT13_HUMAN		6	1316	-			A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	1	1	hg19	c.1205C>A	CCDS31470.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618315	0.66787	.	.	ENSG00000019505	ENST00000020926	T	0.06933	3.24	5.54	5.54	0.83059	5.54	5.54	0.83059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313001	0.29286	N	0.012600	T	0.12518	0.0304	L	0.47190	1.495	0.36781	D	0.884328	B	0.33448	0.412	B	0.34722	0.188	T	0.06023	-1.0850	10	0.59425	D	0.04	.	19.4948	0.95067	0.0:0.0:1.0:0.0	.	402	Q7L8C5	SYT13_HUMAN	Y	402	ENSP00000020926:S402Y	ENSP00000020926:S402Y	S	-	2	0	0	SYT13	45222255	45222255	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	7.622000	0.83099	2.615000	0.88500	0.655000	0.94253	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_020826			86	85		321	314	1		1	1		0	0	75	0		1	1	0	305	0	233	0	86	321
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706																																						ENST00000020926.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				23						c.(70-72)tgC>tgA		synaptotagmin XIII							16.0	15.0	15.0					11																	45307687		2194	4292	6486	SO:0001587	stop_gained	57586	0	0					g.chr11:45307687G>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.72C>A	chr11.hg19:g.45307687G>T	ENSP00000020926:p.Cys24*	0						p.C24*	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	1	2	3	1.993097	Q7L8C5	SYT13_HUMAN		1	183	-			A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Nonsense_Mutation	SNP	ENST00000020926.3	0	1	hg19	c.72C>A	CCDS31470.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656339	0.88056	.	.	ENSG00000019505	ENST00000020926	.	.	.	3.75	0.564	0.17302	3.75	0.564	0.17302	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.6769	0.28490	0.3094:0.0:0.6906:0.0	.	.	.	.	X	24	.	ENSP00000020926:C24X	C	-	3	2	2	SYT13	45264263	45264263	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	0.454000	0.21827	0.079000	0.16929	-0.680000	0.03767	TGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_020826			17	17		51	51	0		1	1		0	0	12	0		9.999862e-01	1	0	81	0	105	0	17	51
SLC35C1	55343	broad.mit.edu	37	11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	238					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627																																						ENST00000314134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(712-714)Gcc>Acc		solute carrier family 35 (GDP-fucose transporter), member C1							59.0	55.0	56.0					11																	45832503		2203	4299	6502	SO:0001583	missense	55343	3	121412	34				g.chr11:45832503G>A		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.712G>A	chr11.hg19:g.45832503G>A	ENSP00000313318:p.Ala238Thr	0					SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	p.A238T	NM_018389.4	NP_060859.4	1	2	3	1.993097	Q96A29	FUCT1_HUMAN		2	2108	+			B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	1	1	hg19	c.712G>A	CCDS7914.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.291539	0.95546	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.68765	-0.35;-0.35;-0.35	6.17	6.17	0.99709	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.82711	-0.0322	10	0.39692	T	0.17	-43.6867	20.8794	0.99867	0.0:0.0:1.0:0.0	.	238	Q96A29	FUCT1_HUMAN	T	225;225;159;238;238	ENSP00000412408:A225T;ENSP00000399779:A225T;ENSP00000313318:A238T	ENSP00000313318:A238T	A	+	1	0	0	SLC35C1	45789079	45789079	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.570000	0.98174	2.941000	0.99782	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_018389			58	55		233	229	1		1	1		0	0	51	0		1	1	0	99	0	178	0	58	233
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	rs141639373	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000241014.2	+	5	1062	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.A288T	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	298	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14833	0.0		0.0	False		,,,				2504	0.0					ENST00000241014.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(892-894)Gcc>Acc		mitogen-activated protein kinase 8 interacting protein 1		G	THR/ALA	2,4400		0,2,2199	20.0	24.0	22.0		892	1.5	0.6	11	dbSNP_134	22	1,8587		0,1,4293	yes	missense	MAPK8IP1	NM_005456.3	58	0,3,6492	AA,AG,GG		0.0116,0.0454,0.0231	benign	298/712	45924210	3,12987	2201	4294	6495	SO:0001583	missense	9479	8	121346	38				g.chr11:45924210G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.892G>A	chr11.hg19:g.45924210G>A	ENSP00000241014:p.Ala298Thr	0					MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.A288T	p.A298T	NM_005456.3	NP_005447.1	1	2	3	1.993097	Q9UQF2	JIP1_HUMAN		5	1062	+			D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	1	1	hg19	c.892G>A	CCDS7916.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.492	0.650899	0.14516	4.54E-4	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36157	1.27;1.27	4.58	1.52	0.23074	4.58	1.52	0.23074	.	0.564273	0.19607	N	0.110250	T	0.13200	0.0320	N	0.12182	0.205	0.21064	N	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.8899	2.9285	0.05792	0.1779:0.1808:0.5165:0.1248	.	298	Q9UQF2	JIP1_HUMAN	T	298;288	ENSP00000241014:A298T;ENSP00000378991:A288T	ENSP00000241014:A298T	A	+	1	0	0	MAPK8IP1	45880786	45880786	0.001000	0.12720	0.573000	0.28510	0.710000	0.40934	0.934000	0.28910	0.219000	0.20840	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-4.116279	1	0.170000	NM_005456			52	51		175	167	1		1	0		0	0	34	0		1	9.847726e-01	0	0	0	25	0	52	175
C11orf94	143678	broad.mit.edu	37	11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T	rs370775218	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	91						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.0031					ENST00000449465.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(271-273)Gag>Aag		chromosome 11 open reading frame 94		C	LYS/GLU	0,3844		0,0,1922	85.0	89.0	88.0		271	4.7	0.9	11		88	1,8245		0,1,4122	no	missense	C11orf94	NM_001080446.2	56	0,1,6044	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	91/99	45928146	1,12089	1922	4123	6045	SO:0001583	missense	143678	33	120816	46				g.chr11:45928146C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.271G>A	chr11.hg19:g.45928146C>T	ENSP00000401498:p.Glu91Lys	0					RP11-618K13.2_ENST00000533218.1_RNA	p.E91K	NM_001080446.2	NP_001073915.2	1	2	3	1.993097	C9JXX5	CK094_HUMAN		3	307	-				Missense_Mutation	SNP	ENST00000449465.1	1	1	hg19	c.271G>A	CCDS44577.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536627	0.45176	0.0	1.21E-4	ENSG00000234776	ENST00000449465	T	0.53206	0.63	4.66	4.66	0.58398	4.66	4.66	0.58398	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.31659	N	0.64586	D	0.56521	0.976	P	0.47981	0.563	T	0.63580	-0.6605	8	0.62326	D	0.03	-14.8082	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	C9JXX5	CK094_HUMAN	K	91	ENSP00000401498:E91K	ENSP00000401498:E91K	E	-	1	0	0	C11orf94	45884722	45884722	0.983000	0.35010	0.918000	0.36340	0.016000	0.09150	2.674000	0.46867	2.419000	0.82065	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	0	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-3.019061	1	0.170000	NM_001080446			89	86		486	480	1		1			0	0	108	0		1	0	0	0	0	0	0	89	486
C11orf94	143678	broad.mit.edu	37	11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T	rs376288720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	55						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18178	0.001		0.0	False		,,,				2504	0.0					ENST00000449465.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(163-165)Ggc>Agc		chromosome 11 open reading frame 94							69.0	81.0	77.0					11																	45928432		2017	4165	6182	SO:0001583	missense	143678	20	120948	45				g.chr11:45928432C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.163G>A	chr11.hg19:g.45928432C>T	ENSP00000401498:p.Gly55Ser	0					RP11-618K13.2_ENST00000533218.1_RNA	p.G55S	NM_001080446.2	NP_001073915.2	1	2	3	1.993097	C9JXX5	CK094_HUMAN		2	199	-				Missense_Mutation	SNP	ENST00000449465.1	1	0	hg19	c.163G>A	CCDS44577.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832458	0.50845	.	.	ENSG00000234776	ENST00000449465	T	0.54675	0.56	4.73	2.84	0.33178	4.73	2.84	0.33178	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.27540	N	0.950833	P	0.38020	0.615	B	0.33121	0.158	T	0.26710	-1.0095	8	0.87932	D	0	-4.7454	9.5199	0.39129	0.0:0.8542:0.0:0.1458	.	55	C9JXX5	CK094_HUMAN	S	55	ENSP00000401498:G55S	ENSP00000401498:G55S	G	-	1	0	0	C11orf94	45885008	45885008	0.897000	0.30589	0.264000	0.24511	0.265000	0.26407	1.715000	0.37971	0.422000	0.26005	0.591000	0.81541	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-3.143265	1	0.170000	NM_001080446			71	68		414	409	1		1	0		0	0	99	0		1	0	0	0	0	1	0	71	414
GYLTL1B	120071	broad.mit.edu	37	11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	386					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			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)		CCACCTGGTGCTGAGCAGGTG	0.592																																						ENST00000531526.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1156-1158)gCt>gAt		glycosyltransferase-like 1B							60.0	62.0	61.0					11																	45948141		2203	4299	6502	SO:0001583	missense	120071	0	0					g.chr11:45948141C>A		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.1157C>A	chr11.hg19:g.45948141C>A	ENSP00000432869:p.Ala386Asp	0					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D	p.A386D	NM_152312.3	NP_689525.3	1	2	3	1.993097	Q8N3Y3	LARG2_HUMAN		9	1268	+			A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	1	1	hg19	c.1157C>A	CCDS31473.1	1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394301	0.25205	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82893	0.92;0.93;0.93;-1.66;0.93;0.92	5.45	4.53	0.55603	5.45	4.53	0.55603	.	0.349496	0.30686	N	0.009081	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29955	0.129;0.263;0.138	B;B;B	0.26614	0.071;0.045;0.065	T	0.57568	-0.7789	10	0.26408	T	0.33	-3.7422	8.1499	0.31134	0.0:0.7569:0.1576:0.0854	.	355;355;386	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	D	355;386;386;113;386;355;47	ENSP00000431932:A355D;ENSP00000432869:A386D;ENSP00000385235:A386D;ENSP00000374618:A113D;ENSP00000324570:A386D;ENSP00000445044:A355D	ENSP00000324570:A386D	A	+	2	0	0	GYLTL1B	45904717	45904717	0.001000	0.12720	0.159000	0.22649	0.527000	0.34593	0.440000	0.21592	1.284000	0.44531	0.561000	0.74099	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_152312			49	49		217	212	1		1	1		0	0	35	0		1	9.998855e-01	0	22	0	41	0	49	217
PHF21A	51317	broad.mit.edu	37	11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000418153.2	-	7	771	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V|PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	191					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						GACAGCCTCTGCCCCAGGCCC	0.512																																						ENST00000418153.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(571-573)gCa>gTa		PHD finger protein 21A							110.0	91.0	97.0					11																	45992707		2202	4299	6501	SO:0001583	missense	51317	0	0					g.chr11:45992707G>A	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.572C>T	chr11.hg19:g.45992707G>A	ENSP00000398824:p.Ala191Val	0					PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V	p.A191V			1	2	3	1.993097	Q96BD5	PF21A_HUMAN		7	771	-			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	1	1	hg19	c.572C>T	CCDS44578.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451365	0.84209	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.51574	0.7;0.7;0.7	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.153764	0.64402	D	0.000015	T	0.54631	0.1870	L	0.54323	1.7	0.58432	D	0.999991	B;D	0.55605	0.265;0.972	B;P	0.48488	0.054;0.579	T	0.55244	-0.8171	10	0.49607	T	0.09	-7.3342	19.5907	0.95509	0.0:0.0:1.0:0.0	.	191;191	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	191	ENSP00000257821:A191V;ENSP00000323152:A191V;ENSP00000398824:A191V	ENSP00000257821:A191V	A	-	2	0	0	PHF21A	45949283	45949283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.640000	0.89533	0.655000	0.94253	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_016621			47	45		176	173	1		1	1		0	0	52	0		1	9.994793e-01	0	4	0	42	0	47	176
CREB3L1	90993	broad.mit.edu	37	11	46332593	46332593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	202					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11p11.2	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1				M	M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				12						c.(604-606)gtG>gtA		cAMP responsive element binding protein 3-like 1							64.0	72.0	69.0					11																	46332593		2158	4251	6409	SO:0001819	synonymous_variant	90993	0	0					g.chr11:46332593G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.606G>A	chr11.hg19:g.46332593G>A		0					CREB3L1_ENST00000288400.3_Silent_p.V202V	p.V202V			1	2	3	1.993097	Q96BA8	CR3L1_HUMAN		5	1057	+			Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	1	1	hg19	c.606G>A	CCDS53620.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_052854			113	111		484	475	1		1	1		0	0	113	0		1	1	0	85	0	143	0	113	484
CREB3L1	90993	broad.mit.edu	37	11	46341984	46341984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	476					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000				Dom	yes			Dom	yes		11	11p11.2	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1				M	M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				12						c.(1426-1428)caC>caT		cAMP responsive element binding protein 3-like 1							32.0	42.0	39.0					11																	46341984		2109	4213	6322	SO:0001819	synonymous_variant	90993	0	0					g.chr11:46341984C>T		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1428C>T	chr11.hg19:g.46341984C>T		0					CREB3L1_ENST00000288400.3_Silent_p.H476H	p.H476H			1	2	3	1.993097	Q96BA8	CR3L1_HUMAN		11	1879	+			Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	1	1	hg19	c.1428C>T	CCDS53620.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_052854			22	22		76	76	1		1	1		0	0	18	0		9.999996e-01	1	0	155	0	324	0	22	76
CREB3L1	90993	broad.mit.edu	37	11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	497					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999870	0.990000	1.000000				Dom	yes			Dom	yes		11	11p11.2	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1				M	M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				12						c.(1489-1491)Gac>Aac		cAMP responsive element binding protein 3-like 1							26.0	33.0	31.0					11																	46342045		2091	4177	6268	SO:0001583	missense	90993	5	120476	28				g.chr11:46342045G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1489G>A	chr11.hg19:g.46342045G>A	ENSP00000434939:p.Asp497Asn	0					CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N	p.D497N			1	2	3	1.993097	Q96BA8	CR3L1_HUMAN		11	1940	+			Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	0	1	hg19	c.1489G>A	CCDS53620.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400389	0.25291	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63417	-0.04;-0.04	4.69	0.622	0.17648	4.69	0.622	0.17648	.	0.410430	0.21415	N	0.074914	T	0.46092	0.1375	L	0.36672	1.1	0.21861	N	0.999502	B;B	0.18863	0.031;0.002	B;B	0.13407	0.009;0.001	T	0.26360	-1.0105	10	0.30854	T	0.27	5.5209	8.3401	0.32239	0.4625:0.0:0.5375:0.0	.	409;497	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	N	497;497;409	ENSP00000434939:D497N;ENSP00000288400:D497N	ENSP00000288400:D497N	D	+	1	0	0	CREB3L1	46298621	46298621	0.999000	0.42202	0.933000	0.37362	0.944000	0.59088	2.068000	0.41471	-0.156000	0.11079	0.430000	0.28490	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_052854			15	14		54	53	0		1	1		0	0	8	0		9.999174e-01	1	0	148	0	204	0	15	54
DGKZ	8525	broad.mit.edu	37	11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T	rs376212984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	10					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677																																						ENST00000454345.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.992075	0.990000	1.000000																										0				25						c.(28-30)Cgg>Tgg		diacylglycerol kinase, zeta		C	TRP/ARG,,,,,,	1,3663		0,1,1831	10.0	12.0	12.0		28,,,,,,	3.5	1.0	11		12	0,7850		0,0,3925	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,1,5756	TT,TC,CC		0.0,0.0273,0.0087	benign,,,,,,	10/1118,,,,,,	46387834	1,11513	1832	3925	5757	SO:0001583	missense	8525	4	118488	24				g.chr11:46387834C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.28C>T	chr11.hg19:g.46387834C>T	ENSP00000412178:p.Arg10Trp	0					DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron	p.R10W	NM_001105540.1	NP_001099010.1	1	2	3	1.993097	Q13574	DGKZ_HUMAN		2	153	+			B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	0	1	hg19	c.28C>T	CCDS41640.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113186	0.37339	2.73E-4	0.0	ENSG00000149091	ENST00000454345	T	0.72942	-0.7	4.53	3.48	0.39840	4.53	3.48	0.39840	.	0.514132	0.14134	N	0.339146	T	0.51160	0.1658	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	B	0.36504	0.226	T	0.57596	-0.7784	10	0.72032	D	0.01	.	8.4214	0.32703	0.2481:0.6147:0.1372:0.0	.	10	Q13574	DGKZ_HUMAN	W	10	ENSP00000412178:R10W	ENSP00000412178:R10W	R	+	1	2	2	DGKZ	46344410	46344410	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	3.810000	0.55613	2.234000	0.73211	0.563000	0.77884	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-19.997150	1	0.170000	NM_001105540			14	13		97	96	1		1	0		0	0	13	0		9.998095e-01	1.863065e-02	0	0	0	2	0	14	97
DGKZ	8525	broad.mit.edu	37	11	46387913	46387913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	ENST00000454345.1	+	2	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	36					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCGGCGTCGCTCCCCCGCT	0.716																																						ENST00000454345.1	1.000000	0.490000	1	8.000000e-01	0.990000	0.928791	0.990000	1.000000																										0				25						c.(106-108)cGc>cAc		diacylglycerol kinase, zeta																																				SO:0001583	missense	8525	2	114548	25				g.chr11:46387913G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.107G>A	chr11.hg19:g.46387913G>A	ENSP00000412178:p.Arg36His	0					DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron	p.R36H	NM_001105540.1	NP_001099010.1	1	2	3	1.993097	Q13574	DGKZ_HUMAN		2	232	+			B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	0	1	hg19	c.107G>A	CCDS41640.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449932	0.84101	.	.	ENSG00000149091	ENST00000454345	T	0.81330	-1.48	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.707951	0.11658	N	0.542176	D	0.83658	0.5302	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.84401	0.0560	10	0.87932	D	0	.	17.6789	0.88237	0.0:0.0:1.0:0.0	.	36	Q13574	DGKZ_HUMAN	H	36	ENSP00000412178:R36H	ENSP00000412178:R36H	R	+	2	0	0	DGKZ	46344489	46344489	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	8.687000	0.91255	2.234000	0.73211	0.563000	0.77884	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	0	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-12.933900	1	0.170000	NM_001105540			5	5		43	43	0		1			0	0	8	0		9.410626e-01	0	0	0	0	0	0	5	43
DGKZ	8525	broad.mit.edu	37	11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	MDK_ENST00000405308.2_5'Flank|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657																																						ENST00000454345.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997490	0.990000	1.000000																										0				25						c.(2923-2925)gCt>gAt		diacylglycerol kinase, zeta							49.0	42.0	45.0					11																	46399765		2197	4297	6494	SO:0001583	missense	8525	2	121002	24				g.chr11:46399765C>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2924C>A	chr11.hg19:g.46399765C>A	ENSP00000412178:p.Ala975Asp	0					DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|MIR4688_ENST00000577966.1_RNA|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D	p.A975D	NM_001105540.1	NP_001099010.1	1	2	3	1.993097	Q13574	DGKZ_HUMAN		27	3049	+			B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	1	1	hg19	c.2924C>A	CCDS41640.1	1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010579	0.19277	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24908	2.37;2.56;2.55;2.6;2.81;3.56;2.37;2.43;2.55;1.83	3.71	2.75	0.32379	3.71	2.75	0.32379	.	0.914548	0.09154	U	0.841129	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.14438	0.0;0.01;0.001;0.0;0.0;0.0;0.002;0.006;0.003	B;B;B;B;B;B;B;B;B	0.11329	0.001;0.004;0.001;0.001;0.001;0.002;0.005;0.003;0.006	T	0.31861	-0.9928	10	0.13108	T	0.6	.	8.3404	0.32241	0.2347:0.7653:0.0:0.0	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	D	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803D;ENSP00000434719:A565D;ENSP00000378941:A753D;ENSP00000436273:A752D;ENSP00000438417:A139D;ENSP00000436291:A787D;ENSP00000395684:A786D;ENSP00000391021:A787D;ENSP00000320340:A764D;ENSP00000412178:A975D	ENSP00000320340:A764D	A	+	2	0	0	DGKZ	46356341	46356341	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	0.707000	0.25704	1.090000	0.41315	0.561000	0.74099	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-19.755280	1	0.170000	NM_001105540			11	11		54	54	1		1	1		0	0	18	0		9.988278e-01	9.985958e-01	0	16	0	47	0	11	54
MDK	4192	broad.mit.edu	37	11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	99					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657																																						ENST00000405308.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(295-297)gGc>gAc		midkine (neurite growth-promoting factor 2)							55.0	43.0	47.0					11																	46404188		2201	4298	6499	SO:0001583	missense	4192	0	0					g.chr11:46404188G>A		CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.296G>A	chr11.hg19:g.46404188G>A	ENSP00000385451:p.Gly99Asp	0					MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D	p.G99D	NM_001270550.1	NP_001257479.1	1	2	3	1.993097	P21741	MK_HUMAN		4	725	+			Q2LEK4|Q9UCC7	Missense_Mutation	SNP	ENST00000405308.2	1	1	hg19	c.296G>A	CCDS7919.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709696	0.89018	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.79488	0.4454	M	0.75264	2.295	0.47276	D	0.999377	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.989	T	0.81667	-0.0829	8	0.72032	D	0.01	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	43;99;99	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	D	99;99;99;99;43;99;99;99	.	ENSP00000352852:G99D	G	+	2	0	0	MDK	46360764	46360764	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.946000	0.49050	2.686000	0.91538	0.650000	0.86243	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-19.999160	1	0.170000	NM_001012334			31	31		98	97	1		1	1		0	0	41	0		1	1	0	398	0	841	0	31	98
CHRM4	1132	broad.mit.edu	37	11	46407334	46407334	+	Silent	SNP	C	C	A	rs200458397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46407334C>A	ENST00000433765.2	-	1	773	c.774G>T	c.(772-774)ccG>ccT	p.P258P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	258					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)			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)	CCTCCCCGGGCGGGGGCTTCT	0.687																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2	1.000000	0.290000	1	4.800000e-01	0.750000	0.741084	0.750000	1.000000																										0				20						c.(772-774)ccG>ccT		cholinergic receptor, muscarinic 4	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)						11.0	13.0	12.0					11																	46407334		1860	4052	5912	SO:0001819	synonymous_variant	1132	0	0					g.chr11:46407334C>A	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.774G>T	chr11.hg19:g.46407334C>A		0						p.P258P	NM_000741.2	NP_000732.2	1	2	3	1.993097	P08173	ACM4_HUMAN		1	773	-			B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	0	1	hg19	c.774G>T	CCDS44581.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-9.414986	1	0.170000	NM_000741			5	5		79	78	0		1	0		0	0	21	0		9.375482e-01	0	0	0	0	1	0	5	79
AMBRA1	55626	broad.mit.edu	37	11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647																																						ENST00000458649.2	1.000000	0.370000	8.500000e-01	4.900000e-01	0.640000	0.669625	0.640000	1.000000																										0				39						c.(3763-3765)cCc>cTc		autophagy/beclin-1 regulator 1							66.0	67.0	67.0					11																	46419133		2202	4299	6501	SO:0001583	missense	55626	0	0					g.chr11:46419133G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3764C>T	chr11.hg19:g.46419133G>A	ENSP00000415327:p.Pro1255Leu	0					AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L	p.P1255L			1	2	3	1.993097	Q9C0C7	AMRA1_HUMAN		18	4182	-			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	1	1	hg19	c.3764C>T		0	.	.	.	.	.	.	.	.	.	.	G	8.631	0.893776	0.17613	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.37;-0.54;-0.13;-0.26;-0.13;-0.23;-0.26	4.22	1.13	0.20643	4.22	1.13	0.20643	.	0.389476	0.24027	N	0.042225	T	0.48333	0.1494	N	0.19112	0.55	0.27832	N	0.941416	B;B;B;B;B;B	0.33238	0.18;0.275;0.275;0.275;0.403;0.275	B;B;B;B;B;B	0.25291	0.011;0.025;0.025;0.025;0.059;0.025	T	0.45659	-0.9246	10	0.87932	D	0	.	7.394	0.26926	0.0:0.3543:0.463:0.1826	.	1255;1226;1195;1136;1258;1165	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	1165;1136;1195;1226;1195;1255;213;1226	ENSP00000318313:P1165L;ENSP00000433372:P1136L;ENSP00000431926:P1195L;ENSP00000410899:P1226L;ENSP00000298834:P1195L;ENSP00000415327:P1255L;ENSP00000433945:P1226L	ENSP00000298834:P1195L	P	-	2	0	0	AMBRA1	46375709	46375709	0.898000	0.30612	0.201000	0.23476	0.011000	0.07611	1.646000	0.37249	0.267000	0.21916	-0.314000	0.08810	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	0		22	2	2	0		0	1	34		34	34	1	2.060000	-3.228033	1	0.170000	NM_017749			14	14		248	244	0		0	1		0	0	34	0		1.020226e-01	9.321080e-01	0	6	0	78	0	14	248
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1224					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692																																						ENST00000458649.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3670-3672)Cga>Tga		autophagy/beclin-1 regulator 1							52.0	55.0	54.0					11																	46419227		2202	4299	6501	SO:0001587	stop_gained	55626	0	0					g.chr11:46419227G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3670C>T	chr11.hg19:g.46419227G>A	ENSP00000415327:p.Arg1224*	0					AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*	p.R1224*			1	2	3	1.993097	Q9C0C7	AMRA1_HUMAN		18	4088	-			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	0	1	hg19	c.3670C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182655	0.57800	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.127211	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4218	0.87517	0.0:0.0:1.0:0.0	.	.	.	.	X	1134;1105;1164;1195;1164;1224;182;1195	.	ENSP00000298834:R1164X	R	-	1	2	2	AMBRA1	46375803	46375803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.832000	0.69337	2.791000	0.96007	0.561000	0.74099	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	0		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_017749			54	52		247	243	1		1	1		0	0	57	0		1	9.999872e-01	0	27	0	51	0	54	247
AMBRA1	55626	broad.mit.edu	37	11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1114					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632																																						ENST00000458649.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				39						c.(3340-3342)gCc>gTc		autophagy/beclin-1 regulator 1							71.0	63.0	66.0					11																	46430125		2202	4299	6501	SO:0001583	missense	55626	0	0					g.chr11:46430125G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3341C>T	chr11.hg19:g.46430125G>A	ENSP00000415327:p.Ala1114Val	0					AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V	p.A1114V			1	2	3	1.993097	Q9C0C7	AMRA1_HUMAN		17	3759	-			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	1	1	hg19	c.3341C>T		1	.	.	.	.	.	.	.	.	.	.	G	35	5.524635	0.96431	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.80123	-1.31;-1.34;-1.02;-1.13;-1.02;-1.16;-1.13	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.993;0.996;0.996;0.996;0.998;0.996	D;D;D;D;D;D	0.80764	0.978;0.99;0.99;0.99;0.994;0.99	D	0.87026	0.2132	10	0.87932	D	0	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1114;1085;1054;995;1117;1024	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	1024;995;1054;1085;1054;1114;72;1085	ENSP00000318313:A1024V;ENSP00000433372:A995V;ENSP00000431926:A1054V;ENSP00000410899:A1085V;ENSP00000298834:A1054V;ENSP00000415327:A1114V;ENSP00000433945:A1085V	ENSP00000298834:A1054V	A	-	2	0	0	AMBRA1	46386701	46386701	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.286000	0.95898	2.677000	0.91161	0.491000	0.48974	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.368086	1	0.170000	NM_017749			34	33		173	168	1		1	1		0	0	49	0		1	9.999829e-01	0	15	0	75	0	34	173
HARBI1	283254	broad.mit.edu	37	11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000434074.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	190						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512																																						ENST00000326737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(568-570)Gag>Aag		harbinger transposase derived 1							144.0	149.0	147.0					11																	46637220		2201	4299	6500	SO:0001583	missense	283254	0	0					g.chr11:46637220C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.568G>A	chr11.hg19:g.46637220C>T	ENSP00000317743:p.Glu190Lys	0					ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000451945.1_5'Flank	p.E190K	NM_173811.3	NP_776172.1	1	2	3	1.993097	Q96MB7	HARB1_HUMAN		2	815	-			D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	1	1	hg19	c.568G>A	CCDS7920.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750490	0.89753	.	.	ENSG00000180423	ENST00000326737	.	.	.	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.47915	0.561	T	0.67280	-0.5710	9	0.29301	T	0.29	-22.794	18.2823	0.90102	0.0:1.0:0.0:0.0	.	190	Q96MB7	HARB1_HUMAN	K	190	.	ENSP00000317743:E190K	E	-	1	0	0	HARBI1	46593796	46593796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.311000	0.77944	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	1	0	1		2	2	2	0		0	0	199		199	198	1	2.060000	-20.000000	1	0.170000	NM_173811			218	213		791	772	1		1	1		0	0	199	0		1	9.579539e-01	0	7	0	14	0	218	791
ARHGAP1	392	broad.mit.edu	37	11	46717607	46717607	+	Silent	SNP	G	G	A	rs538910010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	ENST00000311956.4	-	2	148	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	17					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGAGCCTCGCTGGTGTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.0		0.001	False		,,,				2504	0.0					ENST00000311956.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999836	0.990000	1.000000																										0				11						c.(49-51)agC>agT		Rho GTPase activating protein 1							70.0	54.0	59.0					11																	46717607		2201	4299	6500	SO:0001819	synonymous_variant	392	4	121408	32				g.chr11:46717607G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.51C>T	chr11.hg19:g.46717607G>A		0						p.S17S	NM_004308.3	NP_004299.1	1	2	3	1.993097	Q07960	RHG01_HUMAN		2	148	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	D3DQQ6	Silent	SNP	ENST00000311956.4	0	1	hg19	c.51C>T	CCDS7922.1	1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176617	0.21704	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.2	1.24	0.21308	5.2	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7415	0.40420	0.3428:0.0:0.6572:0.0	.	.	.	.	X	15	.	.	R	-	1	2	2	ARHGAP1	46674183	46674183	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.364000	0.34171	0.614000	0.30107	-0.234000	0.12200	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_004308			19	19		89	89	0		1	1		0	0	21	0		9.999952e-01	1	0	61	0	212	0	19	89
ZNF408	79797	broad.mit.edu	37	11	46726259	46726259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726259C>T	ENST00000311764.2	+	5	1239	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337			R -> P (in dbSNP:rs36017347).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACACTCTCGCGGAGCCCTCC	0.612																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2	1.000000	0.130000	3.800000e-01	1.900000e-01	0.270000	0.306952	0.270000	0.250000																										0				21						c.(1009-1011)Cgg>Tgg		zinc finger protein 408							64.0	61.0	62.0					11																	46726259		2201	4299	6500	SO:0001583	missense	79797	0	0					g.chr11:46726259C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1009C>T	chr11.hg19:g.46726259C>T	ENSP00000309606:p.Arg337Trp	0						p.R337W	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	1	2	3	1.993097	Q9H9D4	ZN408_HUMAN		5	1239	+				Missense_Mutation	SNP	ENST00000311764.2	0	1	hg19	c.1009C>T	CCDS7923.1	0	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101267	0.56183	.	.	ENSG00000175213	ENST00000311764	T	0.11495	2.77	5.15	-4.77	0.03219	5.15	-4.77	0.03219	.	1.687110	0.04210	N	0.331573	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.06405	0.002;0.002	T	0.38693	-0.9649	10	0.44086	T	0.13	-1.3523	2.1234	0.03731	0.2313:0.3455:0.2797:0.1436	.	329;337	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	337	ENSP00000309606:R337W	ENSP00000309606:R337W	R	+	1	2	2	ZNF408	46682835	46682835	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.102000	0.10956	-0.517000	0.06461	0.467000	0.42956	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	0	0	1		17	4	2	1		1	1	92		92	90	1	2.060000	-4.046058	1	0.170000	NM_024741			10	11		448	437	0		0	0		1	0	92	0		1.079463e-01	3.463320e-02	0	1	0	47	0	10	448
ZNF408	79797	broad.mit.edu	37	11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				21						c.(1711-1713)Cgc>Tgc		zinc finger protein 408							25.0	25.0	25.0					11																	46726961		2201	4299	6500	SO:0001583	missense	79797	0	0					g.chr11:46726961C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1711C>T	chr11.hg19:g.46726961C>T	ENSP00000309606:p.Arg571Cys	0						p.R571C	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	1	2	3	1.993097	Q9H9D4	ZN408_HUMAN		5	1941	+				Missense_Mutation	SNP	ENST00000311764.2	1	1	hg19	c.1711C>T	CCDS7923.1	1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299337	0.60195	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.24	0.37175	5.23	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.29491	0.0735	M	0.79123	2.44	0.52501	D	0.999957	P;P	0.47253	0.892;0.892	B;B	0.42112	0.376;0.376	T	0.14420	-1.0473	10	0.87932	D	0	-33.5023	7.5133	0.27585	0.0:0.7036:0.1398:0.1566	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	571	ENSP00000309606:R571C	ENSP00000309606:R571C	R	+	1	0	0	ZNF408	46683537	46683537	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.502000	0.35704	1.205000	0.43262	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000	NM_024741			34	34		166	163	1		1	1		0	0	42	0		1	9.896423e-01	0	14	0	22	0	34	166
F2	2147	broad.mit.edu	37	11	46744800	46744800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)			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)	GCATTGAGTGCCAGCTATGGA	0.607																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5	1.000000	0.350000	6.100000e-01	4.200000e-01	0.500000	0.531016	0.500000	0.500000																										0				27						c.(385-387)tgC>tgT		coagulation factor II (thrombin)	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)						122.0	115.0	118.0					11																	46744800		2201	4299	6500	SO:0001819	synonymous_variant	2147	0	0					g.chr11:46744800C>T	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.387C>T	chr11.hg19:g.46744800C>T		0					F2_ENST00000530231.1_Silent_p.C129C	p.C129C	NM_000506.3	NP_000497.1	1	2	3	1.993097	P00734	THRB_HUMAN		5	443	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	1	1	hg19	c.387C>T	CCDS31476.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1	1	0	1		2	2	2	0		0	0	175		175	175	1	2.060000	-4.281380	1	0.170000				33	29		744	729	0		1			0	0	175	0		1	0	0	0	0	0	0	33	744
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(5653-5655)Cgg>Tgg		cytoskeleton associated protein 5							110.0	106.0	107.0					11																	46771875		2201	4299	6500	SO:0001583	missense	9793	1	121412	34				g.chr11:46771875G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5653C>T	chr11.hg19:g.46771875G>A	ENSP00000432768:p.Arg1885Trp	0					CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W	p.R1885W			1	2	3	1.993097	Q14008	CKAP5_HUMAN		42	5699	-			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	1	1	hg19	c.5653C>T	CCDS31477.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.899108|3.899108	0.72754|0.72754	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.49720|.	0.8;0.8;0.77;0.77|.	5.58|5.58	4.65|4.65	0.58169|0.58169	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.989;0.996;0.99|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.87932|.	D|.	0|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	W|L	1885;1892;1825;1825|123	ENSP00000432768:R1885W;ENSP00000395302:R1892W;ENSP00000310227:R1825W;ENSP00000346566:R1825W|.	ENSP00000310227:R1825W|.	R|S	-|-	1|2	2|0	2|0	CKAP5|CKAP5	46728451|46728451	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-3.206021	1	0.170000	NM_014756			80	79		368	353	1		1	1		0	0	105	0		1	1	0	34	0	124	0	80	368
CKAP5	9793	broad.mit.edu	37	11	46784532	46784532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.V1295V|CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000354558.3_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1295					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTACCTTGACGACAAGATAGG	0.383																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1	1.000000	0.200000	5.000000e-01	2.700000e-01	0.370000	0.406604	0.370000	0.350000																										0				43						c.(3883-3885)gtC>gtT		cytoskeleton associated protein 5							111.0	102.0	105.0					11																	46784532		2201	4299	6500	SO:0001819	synonymous_variant	9793	2	121412	32				g.chr11:46784532G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3885C>T	chr11.hg19:g.46784532G>A		0					CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000415402.1_Silent_p.V1295V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Silent_p.V1295V	p.V1295V			1	2	3	1.993097	Q14008	CKAP5_HUMAN		30	3931	-			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	1	1	hg19	c.3885C>T	CCDS31477.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.318794	1	0.170000	NM_014756			12	12		382	377	0		1	1		0	0	75	0		9.990777e-01	8.701282e-01	0	5	0	113	0	12	382
CKAP5	9793	broad.mit.edu	37	11	46800054	46800054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000415402.1_Silent_p.D843D|CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	843					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2527-2529)gaC>gaT		cytoskeleton associated protein 5							260.0	217.0	231.0					11																	46800054		2201	4299	6500	SO:0001819	synonymous_variant	9793	1	121412	32				g.chr11:46800054G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2529C>T	chr11.hg19:g.46800054G>A		0					CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D	p.D843D			1	2	3	1.993097	Q14008	CKAP5_HUMAN		21	2575	-			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	1	1	hg19	c.2529C>T	CCDS31477.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_014756			118	117		561	556	1		1	1		0	0	113	0		1	1	0	35	0	107	0	118	561
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				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)			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)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2116-2118)aaC>aaT		low density lipoprotein receptor-related protein 4							75.0	72.0	73.0					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038	1	121412	28				g.chr11:46911059G>A	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.2118C>T	chr11.hg19:g.46911059G>A		0		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.N706N	NM_002334.3	NP_002325.2	1	2	3	1.993097	O75096	LRP4_HUMAN		16	2360	-			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	1	1	hg19	c.2118C>T	CCDS31478.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_002334			113	111		453	447	1		1	0		0	0	94	0		1	3.463613e-01	0	0	0	6	0	113	453
LRP4	4038	broad.mit.edu	37	11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	534					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)			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)		CACCTCAATCCTCGAGGTGCC	0.577																																						ENST00000378623.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1600-1602)aGg>aTg		low density lipoprotein receptor-related protein 4							51.0	46.0	48.0					11																	46914620		2201	4299	6500	SO:0001583	missense	4038	0	0					g.chr11:46914620C>A	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.1601G>T	chr11.hg19:g.46914620C>A	ENSP00000367888:p.Arg534Met	0						p.R534M	NM_002334.3	NP_002325.2	1	2	3	1.993097	O75096	LRP4_HUMAN		13	1843	-			B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	1	1	hg19	c.1601G>T	CCDS31478.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047028	0.93740	.	.	ENSG00000134569	ENST00000378623	D	0.95980	-3.87	5.73	5.73	0.89815	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	534	O75096	LRP4_HUMAN	M	534	ENSP00000367888:R534M	ENSP00000367888:R534M	R	-	2	0	0	LRP4	46871196	46871196	1.000000	0.71417	0.974000	0.42286	0.902000	0.53008	7.487000	0.81328	2.707000	0.92482	0.561000	0.74099	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_002334			35	33		145	144	1		1	0		0	0	43	0		1	3.999279e-02	0	0	0	2	0	35	145
LRP4	4038	broad.mit.edu	37	11	46917842	46917842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46917842G>A	ENST00000378623.1	-	9	1209	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	323	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)		CCAATGCAGCGCCCATTCCAA	0.577																																						ENST00000378623.1	1.000000	0.090000	2.900000e-01	1.300000e-01	0.200000	0.241416	0.200000	0.190000																										0				70						c.(967-969)Cgc>Tgc		low density lipoprotein receptor-related protein 4							94.0	88.0	90.0					11																	46917842		2201	4299	6500	SO:0001583	missense	4038	1	121412	35				g.chr11:46917842G>A	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.967C>T	chr11.hg19:g.46917842G>A	ENSP00000367888:p.Arg323Cys	0						p.R323C	NM_002334.3	NP_002325.2	1	2	3	1.993097	O75096	LRP4_HUMAN		9	1209	-			B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	0	1	hg19	c.967C>T	CCDS31478.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.292347	0.95546	.	.	ENSG00000134569	ENST00000378623	T	0.42513	0.97	5.96	5.96	0.96718	5.96	5.96	0.96718	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.60642	-0.7223	10	0.59425	D	0.04	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	323	O75096	LRP4_HUMAN	C	323	ENSP00000367888:R323C	ENSP00000367888:R323C	R	-	1	0	0	LRP4	46874418	46874418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.824000	0.97209	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-2.895815	1	0.170000	NM_002334			8	8		488	479	0		1	0		0	0	124	0		9.886618e-01	9.287366e-03	0	0	0	8	0	8	488
LRP4	4038	broad.mit.edu	37	11	46920210	46920210	+	Missense_Mutation	SNP	C	C	A	rs370407081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46920210C>A	ENST00000378623.1	-	7	937	c.695G>T	c.(694-696)cGc>cTc	p.R232L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	232	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)		CTCCCCAGAGCGGCAGGGCTG	0.592																																						ENST00000378623.1	1.000000	0.100000	2.500000e-01	1.400000e-01	0.180000	0.222912	0.180000	0.180000																										0				70						c.(694-696)cGc>cTc		low density lipoprotein receptor-related protein 4							145.0	140.0	142.0					11																	46920210		2201	4299	6500	SO:0001583	missense	4038	0	0					g.chr11:46920210C>A	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.695G>T	chr11.hg19:g.46920210C>A	ENSP00000367888:p.Arg232Leu	0						p.R232L	NM_002334.3	NP_002325.2	1	2	3	1.993097	O75096	LRP4_HUMAN		7	937	-			B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	0	1	hg19	c.695G>T	CCDS31478.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034911	0.75617	.	.	ENSG00000134569	ENST00000378623	D	0.95554	-3.74	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	L	0.31578	0.945	0.58432	D	0.999998	P;B	0.48089	0.905;0.092	P;B	0.50934	0.654;0.154	D	0.92893	0.6333	10	0.26408	T	0.33	.	19.11	0.93313	0.0:1.0:0.0:0.0	.	277;232	C9JRN7;O75096	.;LRP4_HUMAN	L	232	ENSP00000367888:R232L	ENSP00000367888:R232L	R	-	2	0	0	LRP4	46876786	46876786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.530000	0.85305	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	1		2	2	2	0		0	0	156		156	150	1	2.060000	-2.620650	1	0.170000	NM_002334			16	16		1022	981	0		1	0		0	0	156	0		9.999050e-01	0	0	0	0	1	0	16	1022
NR1H3	10062	broad.mit.edu	37	11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	23					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				20						c.(67-69)Cca>Tca		nuclear receptor subfamily 1, group H, member 3							35.0	36.0	36.0					11																	47281365		2201	4298	6499	SO:0001583	missense	10062	0	0					g.chr11:47281365C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.67C>T	chr11.hg19:g.47281365C>T	ENSP00000420656:p.Pro23Ser	0		OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405576.1_5'UTR	p.P23S			1	2	3	1.993097	Q13133	NR1H3_HUMAN		2	1305	+			A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	1	1	hg19	c.67C>T	CCDS7929.1	1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321402	0.23994	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.66	0.0326	0.14176	5.66	0.0326	0.14176	.	0.500830	0.18336	N	0.144325	T	0.16685	0.0401	N	0.08118	0	0.27865	N	0.940246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.08330	-1.0727	10	0.34782	T	0.22	.	2.013	0.03492	0.1397:0.3331:0.344:0.1831	.	29;23;23	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	S	23	ENSP00000403798:P23S;ENSP00000385801:P23S;ENSP00000391005:P23S;ENSP00000413095:P23S;ENSP00000415591:P23S;ENSP00000387946:P23S;ENSP00000396132:P23S;ENSP00000403696:P23S;ENSP00000420656:P23S;ENSP00000384745:P23S	ENSP00000384745:P23S	P	+	1	0	0	NR1H3	47237941	47237941	0.049000	0.20398	0.280000	0.24747	0.467000	0.32768	-0.834000	0.04391	0.027000	0.15297	0.462000	0.41574	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				43	42		244	242	1		1	1		0	0	32	0		1	9.998400e-01	0	2	0	75	0	43	244
NR1H3	10062	broad.mit.edu	37	11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	105					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582																																						ENST00000467728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(313-315)Gcc>Acc		nuclear receptor subfamily 1, group H, member 3							73.0	66.0	69.0					11																	47282040		2201	4298	6499	SO:0001583	missense	10062	0	0					g.chr11:47282040G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.313G>A	chr11.hg19:g.47282040G>A	ENSP00000420656:p.Ala105Thr	0					NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T	p.A105T			1	2	3	1.993097	Q13133	NR1H3_HUMAN		3	1551	+			A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	1	1	hg19	c.313G>A	CCDS7929.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.223251	0.95139	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.35	5.35	0.76521	5.35	5.35	0.76521	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85373	2.75	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;0.999;1.0;1.0;1.0	D	0.99782	1.1028	10	0.87932	D	0	.	19.4242	0.94734	0.0:0.0:1.0:0.0	.	111;60;105;60;105	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	60;60;60;105;105;105;60;105;105;105;105;105;14	ENSP00000378793:A60T;ENSP00000385073:A60T;ENSP00000433271:A60T;ENSP00000403798:A105T;ENSP00000385801:A105T;ENSP00000391005:A105T;ENSP00000412636:A60T;ENSP00000415591:A105T;ENSP00000387946:A105T;ENSP00000403696:A105T;ENSP00000420656:A105T;ENSP00000384745:A105T;ENSP00000432073:A14T	ENSP00000378793:A60T	A	+	1	0	0	NR1H3	47238616	47238616	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.416000	0.97383	2.653000	0.90120	0.462000	0.41574	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				77	76		335	333	1		1	1		0	0	82	0		1	9.999305e-01	0	12	0	51	0	77	335
MADD	8567	broad.mit.edu	37	11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000311027.5	+	3	380	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000342922.4_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											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)		ATGAGCCTTCGGGATGATACC	0.562																																						ENST00000311027.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(214-216)cGg>cAg		MAP-kinase activating death domain							145.0	142.0	143.0					11																	47296266		2201	4298	6499	SO:0001583	missense	8567	1	121412	30				g.chr11:47296266G>A	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.215G>A	chr11.hg19:g.47296266G>A	ENSP00000310933:p.Arg72Gln	0					RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000342922.4_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q	p.R72Q	NM_003682.3	NP_003673.3	1	2	3	1.993097				3	380	+				Missense_Mutation	SNP	ENST00000311027.5	1	1	hg19	c.215G>A	CCDS7930.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.289652	0.97444	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	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	6.17	6.17	0.99709	6.17	6.17	0.99709	uDENN (3);	0.054564	0.85682	D	0.000000	T	0.68201	0.2975	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D;P;D;D;D	0.91635	0.999;0.967;0.997;0.955;0.97;0.97;0.89;0.996;0.951;0.944	T	0.67201	-0.5730	10	0.66056	D	0.02	-19.198	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;72;72;72;72;72;72;72;72	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	72	ENSP00000343902:R72Q;ENSP00000385585:R72Q;ENSP00000384435:R72Q;ENSP00000304505:R72Q;ENSP00000310933:R72Q;ENSP00000384204:R72Q;ENSP00000378753:R72Q;ENSP00000413116:R72Q;ENSP00000378745:R72Q;ENSP00000384287:R72Q;ENSP00000402364:R72Q	ENSP00000310933:R72Q	R	+	2	0	0	MADD	47252842	47252842	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	1	0	0		22	2	2	0		0	1	182		182	178	1	2.060000	-2.553805	1	0.170000				235	233		945	934	1		1	1		0	0	182	0		1	9.996442e-01	0	6	0	42	0	235	945
MADD	8567	broad.mit.edu	37	11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000311027.5	+	3	456	c.291C>A	c.(289-291)ttC>ttA	p.F97L	RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000342922.4_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											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)		GTGTTAACTTCTACCGCTCCT	0.562																																						ENST00000311027.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(289-291)ttC>ttA		MAP-kinase activating death domain							73.0	73.0	73.0					11																	47296342		2201	4298	6499	SO:0001583	missense	8567	0	0					g.chr11:47296342C>A	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.291C>A	chr11.hg19:g.47296342C>A	ENSP00000310933:p.Phe97Leu	0					RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000342922.4_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L	p.F97L	NM_003682.3	NP_003673.3	1	2	3	1.993097				3	456	+				Missense_Mutation	SNP	ENST00000311027.5	1	1	hg19	c.291C>A	CCDS7930.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.219854	0.95139	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	6.17	0.99709	6.17	6.17	0.99709	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.88450	2.955	0.80722	D	1	D;P;P;D;D;D;D;D;D;D	0.69078	0.966;0.898;0.925;0.987;0.987;0.987;0.993;0.996;0.993;0.997	P;P;P;P;P;P;D;D;D;D	0.81914	0.779;0.823;0.804;0.891;0.891;0.891;0.98;0.99;0.962;0.995	T	0.77115	-0.2707	9	.	.	.	-20.1197	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97;97;97;97;97;97;97;97;97;97	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	97	ENSP00000343902:F97L;ENSP00000385585:F97L;ENSP00000384435:F97L;ENSP00000304505:F97L;ENSP00000310933:F97L;ENSP00000384204:F97L;ENSP00000378753:F97L;ENSP00000413116:F97L;ENSP00000378745:F97L;ENSP00000384287:F97L;ENSP00000402364:F97L	.	F	+	3	2	2	MADD	47252918	47252918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	1	0	0		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000				116	115		417	415	1		1	1		0	0	90	0		1	9.999688e-01	0	11	0	45	0	116	417
MYBPC3	4607	broad.mit.edu	37	11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1053	Ig-like C2-type 6.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637																																						ENST00000545968.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3157-3159)gaG>gaT		myosin binding protein C, cardiac							70.0	75.0	73.0					11																	47355139		2178	4257	6435	SO:0001583	missense	4607	0	0					g.chr11:47355139C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3159G>T	chr11.hg19:g.47355139C>A	ENSP00000442795:p.Glu1053Asp	0					MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D	p.E1053D	NM_000256.3	NP_000247.2	1	2	3	1.993097	Q14896	MYPC3_HUMAN		29	3213	-			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	1	1	hg19	c.3159G>T	CCDS53621.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642978	0.67244	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.69435	-0.4;-0.4;-0.4	5.22	3.21	0.36854	5.22	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69851	0.3157	M	0.80982	2.52	0.42771	D	0.993839	P	0.37015	0.578	P	0.45712	0.491	T	0.65187	-0.6229	9	0.19590	T	0.45	.	8.5207	0.33273	0.2191:0.6975:0.0:0.0834	.	1052	Q14896	MYPC3_HUMAN	D	1053;1053;1052	ENSP00000442795:E1053D;ENSP00000382193:E1053D;ENSP00000256993:E1052D	ENSP00000256993:E1052D	E	-	3	2	2	MYBPC3	47311715	47311715	0.983000	0.35010	1.000000	0.80357	0.974000	0.67602	0.206000	0.17375	1.198000	0.43158	0.484000	0.47621	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.129770	1	0.170000				51	49		222	219	1		1	0		0	0	63	0		1	3.604876e-02	0	0	0	2	0	51	222
MYBPC3	4607	broad.mit.edu	37	11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	758	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637																																						ENST00000545968.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				42						c.(2272-2274)Ggc>Agc		myosin binding protein C, cardiac							94.0	96.0	95.0					11																	47360107		2100	4211	6311	SO:0001583	missense	4607	0	0					g.chr11:47360107C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2272G>A	chr11.hg19:g.47360107C>T	ENSP00000442795:p.Gly758Ser	0					MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S	p.G758S	NM_000256.3	NP_000247.2	1	2	3	1.993097	Q14896	MYPC3_HUMAN		23	2326	-			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	1	1	hg19	c.2272G>A	CCDS53621.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.591283	0.96590	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.82711	-1.64;-1.64;-1.64	5.4	5.4	0.78164	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92328	0.7566	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.93224	0.6611	9	0.87932	D	0	.	19.209	0.93747	0.0:1.0:0.0:0.0	.	757	Q14896	MYPC3_HUMAN	S	758;758;757	ENSP00000442795:G758S;ENSP00000382193:G758S;ENSP00000256993:G757S	ENSP00000256993:G757S	G	-	1	0	0	MYBPC3	47316683	47316683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.469000	0.80959	2.536000	0.85505	0.563000	0.77884	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.350121	1	0.170000				41	40		212	207	1		1	0		0	0	59	0		1	0	0	0	0	1	0	41	212
MYBPC3	4607	broad.mit.edu	37	11	47364609	47364609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000399249.2_Silent_p.V438V|MYBPC3_ENST00000256993.4_Silent_p.V437V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	438	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622																																						ENST00000545968.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998865	0.990000	1.000000																										0				42						c.(1312-1314)gtG>gtA		myosin binding protein C, cardiac							46.0	51.0	49.0					11																	47364609		2137	4243	6380	SO:0001819	synonymous_variant	4607	0	0					g.chr11:47364609C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1314G>A	chr11.hg19:g.47364609C>T		0					MYBPC3_ENST00000399249.2_Silent_p.V438V|MYBPC3_ENST00000256993.4_Silent_p.V437V	p.V438V	NM_000256.3	NP_000247.2	1	2	3	1.993097	Q14896	MYPC3_HUMAN		15	1368	-			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	1	1	hg19	c.1314G>A	CCDS53621.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				17	17		96	94	1		1			0	0	23	0		9.999749e-01	0	0	0	0	0	0	17	96
MYBPC3	4607	broad.mit.edu	37	11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	178	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672																																						ENST00000545968.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.996238	0.990000	1.000000																										0				42						c.(532-534)Gtg>Atg		myosin binding protein C, cardiac							25.0	31.0	29.0					11																	47371447		2071	4202	6273	SO:0001583	missense	4607	2	120828	25				g.chr11:47371447C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.532G>A	chr11.hg19:g.47371447C>T	ENSP00000442795:p.Val178Met	0					MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M	p.V178M	NM_000256.3	NP_000247.2	1	2	3	1.993097	Q14896	MYPC3_HUMAN		5	586	-			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	1	1	hg19	c.532G>A	CCDS53621.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427436	0.83667	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.75154	-0.91;-0.91;-0.91	4.8	4.8	0.61643	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88134	0.6355	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90470	0.4452	9	0.87932	D	0	.	18.2122	0.89874	0.0:1.0:0.0:0.0	.	178	Q14896	MYPC3_HUMAN	M	178	ENSP00000442795:V178M;ENSP00000382193:V178M;ENSP00000256993:V178M	ENSP00000256993:V178M	V	-	1	0	0	MYBPC3	47328023	47328023	1.000000	0.71417	0.827000	0.32855	0.625000	0.37756	4.934000	0.63491	2.385000	0.81259	0.462000	0.41574	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1		2	2	2	0		0	0	16		16	17	1	2.060000	-19.999990	1	0.170000				11	11		59	57	1		1			0	0	16	0		9.985734e-01	0	0	0	0	0	0	11	59
SPI1	6688	broad.mit.edu	37	11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000378538.3	-	3	479	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	86					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657																																						ENST00000378538.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.987806	0.990000	1.000000																										0				8						c.(256-258)cGc>cAc		Spi-1 proto-oncogene							57.0	48.0	51.0					11																	47381477		2200	4298	6498	SO:0001583	missense	6688	0	0					g.chr11:47381477C>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.257G>A	chr11.hg19:g.47381477C>T	ENSP00000367799:p.Arg86His	0					SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H	p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	1	2	3	1.993097	P17947	SPI1_HUMAN		3	479	-				Missense_Mutation	SNP	ENST00000378538.3	1	1	hg19	c.257G>A	CCDS7933.2	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082220	0.76528	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.22336	1.96;1.97	3.59	3.59	0.41128	3.59	3.59	0.41128	.	0.064020	0.64402	D	0.000012	T	0.42562	0.1208	M	0.75777	2.31	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.71184	0.966;0.84;0.972	T	0.37663	-0.9696	10	0.15499	T	0.54	-27.9195	15.7696	0.78157	0.0:1.0:0.0:0.0	.	86;86;87	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	H	86;87;86	ENSP00000367799:R86H;ENSP00000227163:R87H	ENSP00000227163:R87H	R	-	2	0	0	SPI1	47338053	47338053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.985000	0.57927	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	1	0	1		2	2	6	0		0	0	48		48	47	1	2.060000	-3.221908	1	0.170000	NM_003120			25	25		213	212	1		1	0	1	0	1	48	552		9.999999e-01	1	1	1	39	296	563	25	213
SLC39A13	91252	broad.mit.edu	37	11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A	rs574886559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000362021.4	+	5	610	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	190	Poly-Ala.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15264	0.0		0.0	False		,,,				2504	0.001					ENST00000362021.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(568-570)Gcc>Acc		solute carrier family 39 (zinc transporter), member 13							31.0	33.0	32.0					11																	47434981		2201	4298	6499	SO:0001583	missense	91252	1	121412	27				g.chr11:47434981G>A		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.568G>A	chr11.hg19:g.47434981G>A	ENSP00000354689:p.Ala190Thr	0					SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T	p.A190T	NM_001128225.2	NP_001121697	1	2	3	1.993097	Q96H72	S39AD_HUMAN		5	610	+			D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	1	1	hg19	c.568G>A	CCDS44592.1	1	.	.	.	.	.	.	.	.	.	.	G	4.021	0.001430	0.07819	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.93	1.96	0.26148	4.93	1.96	0.26148	.	2.703060	0.00757	N	0.001107	T	0.29524	0.0736	N	0.25332	0.735	0.09310	N	1	B;B;P	0.34724	0.012;0.012;0.465	B;B;B	0.25405	0.02;0.002;0.06	T	0.12553	-1.0543	10	0.14252	T	0.57	-17.1502	3.3102	0.07014	0.0975:0.1991:0.5393:0.164	.	190;190;190	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	190	ENSP00000434290:A190T;ENSP00000354689:A190T;ENSP00000346956:A190T;ENSP00000432499:A190T;ENSP00000437186:A190T	ENSP00000346956:A190T	A	+	1	0	0	SLC39A13	47391557	47391557	0.042000	0.20092	0.004000	0.12327	0.034000	0.12701	1.262000	0.32992	0.121000	0.18284	0.455000	0.32223	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-3.419174	1	0.170000	NM_152264			62	60		280	275	1		1	1		0	0	75	0		1	1	0	43	0	123	0	62	280
C1QTNF4	114900	broad.mit.edu	37	11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	268	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTCTGCATCTCGCGGCGCCGC	0.677																																						ENST00000302514.3	1.000000	0.620000	1	7.900000e-01	0.990000	0.921185	0.990000	1.000000																										0				6						c.(802-804)Gag>Aag		C1q and tumor necrosis factor related protein 4							52.0	62.0	59.0					11																	47611561		2200	4296	6496	SO:0001583	missense	114900	1	121064	24				g.chr11:47611561C>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.802G>A	chr11.hg19:g.47611561C>T	ENSP00000302274:p.Glu268Lys	0						p.E268K	NM_031909.2	NP_114115.2	1	2	3	1.993097	Q9BXJ3	C1QT4_HUMAN		2	1318	-			Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	1	1	hg19	c.802G>A	CCDS7942.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966121	0.92855	.	.	ENSG00000172247	ENST00000302514	D	0.85955	-2.05	4.27	3.34	0.38264	4.27	3.34	0.38264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.069186	0.56097	U	0.000022	T	0.78805	0.4341	L	0.43598	1.365	0.49213	D	0.999766	P	0.47034	0.889	B	0.38712	0.28	T	0.77308	-0.2636	10	0.38643	T	0.18	.	14.2981	0.66329	0.0:0.85:0.15:0.0	.	268	Q9BXJ3	C1QT4_HUMAN	K	268	ENSP00000302274:E268K	ENSP00000302274:E268K	E	-	1	0	0	C1QTNF4	47568137	47568137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.836000	0.69375	0.878000	0.35920	0.462000	0.41574	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-19.999990	1	0.170000	NM_031909			19	19		209	207	0		1			0	0	30	0		9.999919e-01	0	0	0	0	0	0	19	209
MTCH2	23788	broad.mit.edu	37	11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	258					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333																																						ENST00000302503.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				11						c.(772-774)taC>taA		mitochondrial carrier 2							70.0	65.0	67.0					11																	47644304		2201	4297	6498	SO:0001587	stop_gained	23788	0	0					g.chr11:47644304G>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.774C>A	chr11.hg19:g.47644304G>T	ENSP00000303222:p.Tyr258*	0					MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*	p.Y258*	NM_014342.3	NP_055157.1	1	2	3	1.993097	Q9Y6C9	MTCH2_HUMAN		12	931	-			B2R7L8	Nonsense_Mutation	SNP	ENST00000302503.3	0	1	hg19	c.774C>A	CCDS7943.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.637882	0.96693	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	.	.	.	5.82	1.34	0.21922	5.82	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8946	6.5142	0.22239	0.4954:0.0:0.5046:0.0	.	.	.	.	X	258;110;249	.	ENSP00000303222:Y258X	Y	-	3	2	2	MTCH2	47600880	47600880	0.988000	0.35896	1.000000	0.80357	0.970000	0.65996	0.071000	0.14594	0.376000	0.24707	0.561000	0.74099	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_014342			35	35		168	165	1		1	1		0	0	53	0		1	1	0	59	0	337	0	35	168
MTCH2	23788	broad.mit.edu	37	11	47657112	47657112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	97					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393																																						ENST00000302503.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				11						c.(289-291)gaG>gaA		mitochondrial carrier 2							179.0	147.0	158.0					11																	47657112		2201	4298	6499	SO:0001819	synonymous_variant	23788	0	0					g.chr11:47657112C>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.291G>A	chr11.hg19:g.47657112C>T		0					MTCH2_ENST00000542981.1_5'UTR	p.E97E	NM_014342.3	NP_055157.1	1	2	3	1.993097	Q9Y6C9	MTCH2_HUMAN		4	448	-			B2R7L8	Silent	SNP	ENST00000302503.3	1	1	hg19	c.291G>A	CCDS7943.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.888688	1	0.170000	NM_014342			41	40		231	223	1		1	1		0	0	58	0		1	1	0	76	0	150	0	41	231
AGBL2	79841	broad.mit.edu	37	11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000525123.1	-	4	440	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	52						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P52H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433																																						ENST00000525123.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P52H(1)	lung(1)	34						c.(154-156)cCt>cAt		ATP/GTP binding protein-like 2							135.0	125.0	129.0					11																	47732006		2201	4298	6499	SO:0001583	missense	79841	0	0					g.chr11:47732006G>T		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.155C>A	chr11.hg19:g.47732006G>T	ENSP00000435582:p.Pro52His	0					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H	p.P52H	NM_024783.3	NP_079059.2	1	2	3	1.993097	Q5U5Z8	CBPC2_HUMAN		4	440	-			A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	1	1	hg19	c.155C>A	CCDS7944.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179860	0.38511	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.733796	0.12627	N	0.452554	T	0.57636	0.2067	M	0.67953	2.075	0.22412	N	0.999123	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56514	0.8;0.707;0.707	T	0.51949	-0.8640	10	0.87932	D	0	-3.1881	13.4672	0.61260	0.0:0.0:1.0:0.0	.	52;52;52	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	H	52;52;52;52;52;52;32;52	ENSP00000435582:P52H;ENSP00000350228:P52H;ENSP00000298861:P52H;ENSP00000436630:P52H;ENSP00000436063:P52H;ENSP00000432264:P32H;ENSP00000436518:P52H	ENSP00000298861:P52H	P	-	2	0	0	AGBL2	47688582	47688582	1.000000	0.71417	0.148000	0.22405	0.069000	0.16628	4.127000	0.57944	2.239000	0.73571	0.585000	0.79938	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-2.753657	1	0.170000	NM_024783			83	82		394	387	1		1	1		0	0	90	0		1	2.837203e-01	0	3	0	3	0	83	394
AGBL2	79841	broad.mit.edu	37	11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000525123.1	-	3	344	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	20						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363																																						ENST00000525123.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(58-60)tTt>tGt		ATP/GTP binding protein-like 2							124.0	113.0	117.0					11																	47735874		2201	4298	6499	SO:0001583	missense	79841	0	0					g.chr11:47735874A>C		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.59T>G	chr11.hg19:g.47735874A>C	ENSP00000435582:p.Phe20Cys	0					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C	p.F20C	NM_024783.3	NP_079059.2	1	2	3	1.993097	Q5U5Z8	CBPC2_HUMAN		3	344	-			A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	1	1	hg19	c.59T>G	CCDS7944.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276428	0.80580	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.244339	0.35151	N	0.003404	T	0.54679	0.1873	M	0.72894	2.215	0.37178	D	0.903382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.972;0.996	T	0.65792	-0.6082	10	0.87932	D	0	-22.7366	14.5772	0.68258	1.0:0.0:0.0:0.0	.	20;20;20	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	C	20	ENSP00000435582:F20C;ENSP00000350228:F20C;ENSP00000298861:F20C;ENSP00000436630:F20C;ENSP00000436063:F20C;ENSP00000436518:F20C;ENSP00000431835:F20C	ENSP00000298861:F20C	F	-	2	0	0	AGBL2	47692450	47692450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.886000	0.75611	1.914000	0.55421	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_024783			79	78		280	275	1		1	1		0	0	64	0		1	3.077960e-01	0	2	0	3	0	79	280
FNBP4	23360	broad.mit.edu	37	11	47772826	47772826	+	Silent	SNP	G	G	A	rs181295298	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	218	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.0					ENST00000263773.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(652-654)ggC>ggT		formin binding protein 4		G		3,3751		0,3,1874	115.0	105.0	108.0		654	4.3	1.0	11		108	0,8220		0,0,4110	no	coding-synonymous	FNBP4	NM_015308.2		0,3,5984	AA,AG,GG		0.0,0.0799,0.0251		218/1018	47772826	3,11971	1877	4110	5987	SO:0001819	synonymous_variant	23360	9	120844	44				g.chr11:47772826G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.654C>T	chr11.hg19:g.47772826G>A		0					FNBP4_ENST00000534003.1_5'UTR	p.G218G	NM_015308.2	NP_056123.2	1	2	3	1.993097	Q8N3X1	FNBP4_HUMAN		5	666	-			Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	1	1	hg19	c.654C>T	CCDS41644.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-3.343583	1	0.170000				99	95		473	463	1		1	1		0	0	121	0		1	9.999593e-01	0	21	0	49	0	99	473
NUP160	23279	broad.mit.edu	37	11	47806599	47806599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47806599A>G	ENST00000378460.2	-	33	3911	c.3865T>C	c.(3865-3867)Tgg>Cgg	p.W1289R	NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1289					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)|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 envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AATAGTCGCCATGCTTCATCT	0.378																																						ENST00000378460.2	1.000000	0.110000	3.800000e-01	1.700000e-01	0.250000	0.296409	0.250000	0.240000																										0				53						c.(3865-3867)Tgg>Cgg		nucleoporin 160kDa							122.0	106.0	111.0					11																	47806599		2201	4298	6499	SO:0001583	missense	23279	0	0					g.chr11:47806599A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3865T>C	chr11.hg19:g.47806599A>G	ENSP00000367721:p.Trp1289Arg	0					NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	p.W1289R	NM_015231.1	NP_056046.1	1	2	3	1.993097	Q12769	NU160_HUMAN		33	3911	-			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	0	1	hg19	c.3865T>C	CCDS31484.1	0	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379224	0.82682	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.78481	0.06;-1.18	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90491	0.4467	10	0.87932	D	0	.	16.2364	0.82377	1.0:0.0:0.0:0.0	.	1289	Q12769	NU160_HUMAN	R	1289;1175	ENSP00000367721:W1289R;ENSP00000433590:W1175R	ENSP00000367721:W1289R	W	-	1	0	0	NUP160	47763175	47763175	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.414000	0.90238	2.238000	0.73509	0.477000	0.44152	TGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	0	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-7.779120	1	0.170000	NM_015231			7	7		338	326	0		1	1		0	0	85	0		9.782998e-01	7.295471e-01	0	2	0	121	0	7	338
NUP160	23279	broad.mit.edu	37	11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H|NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	774					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)|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 envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403																																						ENST00000378460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2320-2322)Tac>Cac		nucleoporin 160kDa							105.0	94.0	98.0					11																	47830003		2201	4298	6499	SO:0001583	missense	23279	0	0					g.chr11:47830003A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2320T>C	chr11.hg19:g.47830003A>G	ENSP00000367721:p.Tyr774His	0					NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	p.Y774H	NM_015231.1	NP_056046.1	1	2	3	1.993097	Q12769	NU160_HUMAN		18	2366	-			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	1	1	hg19	c.2320T>C	CCDS31484.1	1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543547	0.45280	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51071	1.31;0.74;0.72	5.93	1.11	0.20524	5.93	1.11	0.20524	.	0.683244	0.15228	N	0.273568	T	0.29028	0.0721	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06752	-1.0809	10	0.17832	T	0.49	.	9.0481	0.36358	0.7124:0.0:0.2876:0.0	.	774	Q12769	NU160_HUMAN	H	774;660;660	ENSP00000367721:Y774H;ENSP00000433590:Y660H;ENSP00000432367:Y660H	ENSP00000367721:Y774H	Y	-	1	0	0	NUP160	47786579	47786579	0.971000	0.33674	0.663000	0.29738	0.978000	0.69477	2.055000	0.41345	-0.051000	0.13334	0.528000	0.53228	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_015231			55	55		261	257	1		1	1		0	0	60	0		1	9.999975e-01	0	32	0	61	0	55	261
NUP160	23279	broad.mit.edu	37	11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	295					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)|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 envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413																																						ENST00000378460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(883-885)Cat>Tat		nucleoporin 160kDa							176.0	153.0	161.0					11																	47858498		2201	4298	6499	SO:0001583	missense	23279	0	0					g.chr11:47858498G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.883C>T	chr11.hg19:g.47858498G>A	ENSP00000367721:p.His295Tyr	0					NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR	p.H295Y	NM_015231.1	NP_056046.1	1	2	3	1.993097	Q12769	NU160_HUMAN		6	929	-			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	1	1	hg19	c.883C>T	CCDS31484.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626640	0.66901	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42900	0.96;0.96;0.96	5.5	3.61	0.41365	5.5	3.61	0.41365	.	0.240232	0.43260	D	0.000584	T	0.44993	0.1320	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.47626	0.552	T	0.28106	-1.0054	10	0.13108	T	0.6	.	14.7893	0.69827	0.0:0.0:0.7366:0.2633	.	295	Q12769	NU160_HUMAN	Y	295;45;181;181	ENSP00000367721:H295Y;ENSP00000433590:H181Y;ENSP00000432367:H181Y	ENSP00000367721:H295Y	H	-	1	0	0	NUP160	47815074	47815074	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	4.345000	0.59360	0.667000	0.31107	0.655000	0.94253	CAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_015231			59	57		234	232	1		1	1		0	0	71	0		1	9.999873e-01	0	20	0	49	0	59	234
PTPRJ	5795	broad.mit.edu	37	11	48149438	48149438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48149438G>A	ENST00000418331.2	+	7	1552	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PTPRJ_ENST00000440289.2_Silent_p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	400	Fibronectin type-III 4. {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)			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						ATACCTACAAGATACATGTGG	0.517																																						ENST00000418331.2	1.000000	0.300000	5.800000e-01	3.700000e-01	0.460000	0.493520	0.460000	0.450000																										0				52						c.(1198-1200)aaG>aaA		protein tyrosine phosphatase, receptor type, J							165.0	138.0	147.0					11																	48149438		2201	4298	6499	SO:0001819	synonymous_variant	5795	0	0					g.chr11:48149438G>A	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.1200G>A	chr11.hg19:g.48149438G>A		0					PTPRJ_ENST00000440289.2_Silent_p.K400K	p.K400K	NM_002843.3	NP_002834.3	1	2	3	1.993097	Q12913	PTPRJ_HUMAN		7	1552	+			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	1	1	hg19	c.1200G>A	CCDS7945.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1	0	0	1		2	2	2	0		0	0	133		133	126	1	2.060000	-3.930492	1	0.170000				23	23		569	552	0		1	1		0	0	133	0		9.999991e-01	8.435362e-01	0	7	0	78	0	23	569
PTPRJ	5795	broad.mit.edu	37	11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	761	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)			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						GCCTGGAACAATGCGACCCAC	0.537																																						ENST00000418331.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2281-2283)aAt>aGt		protein tyrosine phosphatase, receptor type, J							91.0	85.0	87.0					11																	48161167		2201	4298	6499	SO:0001583	missense	5795	1	121412	29				g.chr11:48161167A>G	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.2282A>G	chr11.hg19:g.48161167A>G	ENSP00000400010:p.Asn761Ser	0						p.N761S	NM_002843.3	NP_002834.3	1	2	3	1.993097	Q12913	PTPRJ_HUMAN		11	2634	+			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	1	1	hg19	c.2282A>G	CCDS7945.1	1	.	.	.	.	.	.	.	.	.	.	A	9.835	1.189538	0.21954	.	.	ENSG00000149177	ENST00000418331	T	0.52057	0.68	5.29	1.58	0.23477	5.29	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39627	0.1085	M	0.65975	2.015	0.09310	N	0.999999	B	0.25850	0.136	B	0.19391	0.025	T	0.30238	-0.9985	9	0.14252	T	0.57	.	7.4039	0.26979	0.7336:0.0:0.2664:0.0	.	761	Q12913	PTPRJ_HUMAN	S	761	ENSP00000400010:N761S	ENSP00000400010:N761S	N	+	2	0	0	PTPRJ	48117743	48117743	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.839000	0.27586	0.321000	0.23259	-0.256000	0.11100	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				45	45		219	218	1		1	1		0	0	60	0		1	9.999997e-01	0	33	0	83	0	45	219
OR4X2	119764	broad.mit.edu	37	11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448																																						ENST00000302329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(37-39)caG>caT		olfactory receptor, family 4, subfamily X, member 2							179.0	148.0	159.0					11																	48266694		2201	4298	6499	SO:0001583	missense	119764	0	0					g.chr11:48266694G>T	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.39G>T	chr11.hg19:g.48266694G>T	ENSP00000307751:p.Gln13His	0						p.Q13H	NM_001004727.1	NP_001004727.1	1	2	3	1.993097	Q8NGF9	OR4X2_HUMAN		1	87	+			B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	1	1	hg19	c.39G>T	CCDS31486.1	1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290542	0.10567	.	.	ENSG00000172208	ENST00000302329	T	0.02974	4.09	5.37	-0.423	0.12325	5.37	-0.423	0.12325	.	1.300900	0.05306	N	0.523901	T	0.03053	0.0090	N	0.16602	0.42	0.09310	N	1	P	0.38148	0.62	B	0.40659	0.336	T	0.49476	-0.8936	10	0.87932	D	0	.	8.6846	0.34229	0.4934:0.0:0.5066:0.0	.	13	Q8NGF9	OR4X2_HUMAN	H	13	ENSP00000307751:Q13H	ENSP00000307751:Q13H	Q	+	3	2	2	OR4X2	48223270	48223270	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.585000	0.00903	0.000000	0.14550	-0.143000	0.13931	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.121496	1	0.170000	NM_001004727			128	124		531	516	1		1			0	0	107	0		1	0	0	0	0	0	0	128	531
OR4X2	119764	broad.mit.edu	37	11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502																																						ENST00000302329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(418-420)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							224.0	184.0	198.0					11																	48267073		2201	4298	6499	SO:0001583	missense	119764	0	0					g.chr11:48267073G>T	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.418G>T	chr11.hg19:g.48267073G>T	ENSP00000307751:p.Ala140Ser	0						p.A140S	NM_001004727.1	NP_001004727.1	1	2	3	1.993097	Q8NGF9	OR4X2_HUMAN		1	466	+			B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	1	1	hg19	c.418G>T	CCDS31486.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957308	0.34565	.	.	ENSG00000172208	ENST00000302329	T	0.36520	1.25	5.37	4.44	0.53790	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23249	0.0562	N	0.02960	-0.455	0.28159	N	0.929083	P	0.51791	0.948	P	0.55222	0.771	T	0.05402	-1.0887	10	0.23302	T	0.38	.	6.8171	0.23837	0.0882:0.0:0.7346:0.1772	.	140	Q8NGF9	OR4X2_HUMAN	S	140	ENSP00000307751:A140S	ENSP00000307751:A140S	A	+	1	0	0	OR4X2	48223649	48223649	0.165000	0.22948	0.039000	0.18376	0.557000	0.35523	1.926000	0.40084	1.212000	0.43366	0.650000	0.86243	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_001004727			139	133		563	549	1		1			0	0	125	0		1	0	0	0	0	0	0	139	563
OR4X2	119764	broad.mit.edu	37	11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517																																						ENST00000302329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(622-624)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							192.0	168.0	176.0					11																	48267277		2201	4298	6499	SO:0001583	missense	119764	0	0					g.chr11:48267277G>T	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.622G>T	chr11.hg19:g.48267277G>T	ENSP00000307751:p.Ala208Ser	0						p.A208S	NM_001004727.1	NP_001004727.1	1	2	3	1.993097	Q8NGF9	OR4X2_HUMAN		1	670	+			B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	1	1	hg19	c.622G>T	CCDS31486.1	1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040199	0.08148	.	.	ENSG00000172208	ENST00000302329	T	0.37235	1.21	5.37	0.603	0.17541	5.37	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.378408	0.22553	N	0.058569	T	0.22244	0.0536	L	0.35487	1.065	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.13045	-1.0524	10	0.35671	T	0.21	.	4.8436	0.13503	0.1753:0.0:0.4144:0.4104	.	208	Q8NGF9	OR4X2_HUMAN	S	208	ENSP00000307751:A208S	ENSP00000307751:A208S	A	+	1	0	0	OR4X2	48223853	48223853	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	-1.070000	0.03440	0.201000	0.20466	0.650000	0.86243	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_001004727			97	95		584	571	1		1			0	0	122	0		1	0	0	0	0	0	0	97	584
OR4X1	390113	broad.mit.edu	37	11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542																																						ENST00000320048.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(700-702)Gcc>Acc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							130.0	116.0	121.0					11																	48286112		2201	4298	6499	SO:0001583	missense	390113	0	0					g.chr11:48286112G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.700G>A	chr11.hg19:g.48286112G>A	ENSP00000321506:p.Ala234Thr	0						p.A234T	NM_001004726.1	NP_001004726.1	1	2	3	1.993097	Q8NH49	OR4X1_HUMAN		1	700	+			Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	1	1	hg19	c.700G>A	CCDS31487.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392031	0.42410	.	.	ENSG00000176567	ENST00000320048	T	0.00357	7.89	4.5	3.59	0.41128	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73753	2.245	0.24716	N	0.993173	D	0.89917	1.0	D	0.97110	1.0	T	0.47935	-0.9078	9	0.72032	D	0.01	.	10.774	0.46340	0.0941:0.0:0.9059:0.0	.	234	Q8NH49	OR4X1_HUMAN	T	234	ENSP00000321506:A234T	ENSP00000321506:A234T	A	+	1	0	0	OR4X1	48242688	48242688	1.000000	0.71417	0.362000	0.25862	0.001000	0.01503	3.712000	0.54875	1.240000	0.43803	-0.244000	0.11960	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.195169	1	0.170000	NM_001004726			88	86		407	398	1		1			0	0	89	0		1	0	0	0	0	0	0	88	407
OR4C3	256144	broad.mit.edu	37	11	48347024	48347024	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347024T>G	ENST00000319856.4	+	1	553	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCTTGGGGGCTTCCTGCATTC	0.527																																						ENST00000319856.4	1.000000	0.450000	7.700000e-01	5.400000e-01	0.640000	0.659295	0.640000	0.630000																										0				32						c.(532-534)Ttc>Gtc		olfactory receptor, family 4, subfamily C, member 3							136.0	129.0	131.0					11																	48347024		2201	4298	6499	SO:0001583	missense	256144	0	0					g.chr11:48347024T>G	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.532T>G	chr11.hg19:g.48347024T>G	ENSP00000321419:p.Phe178Val	0						p.F178V	NM_001004702.1	NP_001004702.1	1	2	3	1.993097	Q8NH37	OR4C3_HUMAN		1	553	+			B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	1	0	hg19	c.532T>G	CCDS31489.1	0	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132463	0.56828	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00164	8.64	5.78	1.97	0.26223	5.78	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.116765	0.39210	N	0.001440	T	0.00210	0.0006	M	0.64997	1.995	0.09310	N	0.999999	P	0.34522	0.455	P	0.44811	0.461	T	0.27468	-1.0073	10	0.72032	D	0.01	.	2.4149	0.04433	0.1448:0.0808:0.3005:0.4738	.	151	Q8NH37	OR4C3_HUMAN	V	178;41	ENSP00000321419:F178V	ENSP00000321419:F178V	F	+	1	0	0	OR4C3	48303600	48303600	0.047000	0.20315	0.984000	0.44739	0.987000	0.75469	2.365000	0.44196	0.472000	0.27344	0.391000	0.25812	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	1	0	0		2	2	2	0		0	0	125		125	122	1	2.060000	-20.000000	1	0.170000	NM_001004702			36	33		634	601	0		1			0	0	125	0		1	0	0	0	0	0	0	36	634
FOLH1	2346	broad.mit.edu	37	11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A	rs375836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000256999.2	-	16	2137	c.1877G>T	c.(1876-1878)aGt>aTt	p.S626I	FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000340334.7_Missense_Mutation_p.S611I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	626					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAATGATACACTGTATGTCTT	0.323																																						ENST00000256999.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1876-1878)aGt>aTt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)						144.0	130.0	135.0					11																	49175791		2201	4298	6499	SO:0001583	missense	2346	0	0					g.chr11:49175791C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1877G>T	chr11.hg19:g.49175791C>A	ENSP00000256999:p.Ser626Ile	0					FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000340334.7_Missense_Mutation_p.S611I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I	p.S626I	NM_004476.1	NP_004467.1	1	2	3	1.993097	Q04609	FOLH1_HUMAN		16	2137	-			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	1	1	hg19	c.1877G>T	CCDS7946.1	1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864361	0.17250	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.62	-5.07	0.02938	3.62	-5.07	0.02938	Transferrin receptor-like, dimerisation domain (2);	0.959845	0.08638	N	0.916012	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.42078	0.074;0.092;0.004;0.059;0.77	B;B;B;B;B	0.37239	0.034;0.037;0.023;0.074;0.244	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.1645	0.20382	0.1324:0.3207:0.0:0.5469	.	611;611;626;626;41	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	I	626;626;611;318;611	ENSP00000256999:S626I;ENSP00000349129:S626I;ENSP00000344131:S611I;ENSP00000344086:S318I;ENSP00000431463:S611I	ENSP00000256999:S626I	S	-	2	0	0	FOLH1	49132367	49132367	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-1.647000	0.01997	-1.037000	0.03283	0.404000	0.27445	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	1	0	1		14	2	2	0		0	1	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_004476			67	66		297	290	1		1	0		0	0	94	0		1	7.915518e-01	0	0	0	15	0	67	297
OR4C12	283093	broad.mit.edu	37	11	50003628	50003628	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50003628C>A	ENST00000335238.4	-	1	443	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGCACAGGCTGTGGCTCAT	0.498																																						ENST00000335238.4	1.000000	0.180000	3.500000e-01	2.200000e-01	0.280000	0.313164	0.280000	0.280000																										0				36						c.(409-411)aGc>aTc		olfactory receptor, family 4, subfamily C, member 12							159.0	163.0	162.0					11																	50003628		2201	4296	6497	SO:0001583	missense	283093	0	0					g.chr11:50003628C>A	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.410G>T	chr11.hg19:g.50003628C>A	ENSP00000334418:p.Ser137Ile	0						p.S137I	NM_001005270.2	NP_001005270.2	1	2	3	1.993097	Q96R67	OR4CC_HUMAN		1	443	-			B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	0	1	hg19	c.410G>T	CCDS31496.1	0	.	.	.	.	.	.	.	.	.	.	.	1.770	-0.484549	0.04352	.	.	ENSG00000221954	ENST00000335238	T	0.38077	1.16	3.31	-0.249	0.13011	3.31	-0.249	0.13011	GPCR, rhodopsin-like superfamily (1);	0.620671	0.13071	U	0.416101	T	0.25082	0.0609	L	0.32530	0.975	0.09310	N	1	B	0.21309	0.054	B	0.25759	0.063	T	0.27571	-1.0070	10	0.66056	D	0.02	.	6.2106	0.20628	0.0:0.3643:0.0:0.6357	.	137	Q96R67	OR4CC_HUMAN	I	137	ENSP00000334418:S137I	ENSP00000334418:S137I	S	-	2	0	0	OR4C12	49960204	49960204	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.739000	0.01840	0.109000	0.17891	-0.555000	0.04198	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	0	0	1		16	2	2	1		1	1	264		264	262	1	2.060000	-2.823287	1	0.170000	NM_001005270			28	24		1163	1144	0		1			1	0	264	0		9.726445e-01	0	0	0	0	0	0	28	1163
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T285T(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)				AATTTCTCAACGTATATATTA	0.328																																						ENST00000319760.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T285T(1)	lung(1)	49						c.(853-855)acG>acA		olfactory receptor, family 4, subfamily A, member 5							34.0	36.0	35.0					11																	51411541		2201	4293	6494	SO:0001819	synonymous_variant	81318	3	121316	29				g.chr11:51411541C>T	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.855G>A	chr11.hg19:g.51411541C>T		0						p.T285T	NM_001005272.3	NP_001005272.3	1	2	3	1.993097	Q8NH83	OR4A5_HUMAN		1	907	-		all_lung(304;0.236)	Q6IF84	Silent	SNP	ENST00000319760.6	1	1	hg19	c.855G>A	CCDS31497.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-17.674910	1	0.170000	NM_001005272			29	29		136	133	1		1			0	0	43	0		1	0	0	0	0	0	0	29	136
OR4A5	81318	broad.mit.edu	37	11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428																																						ENST00000319760.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				49						c.(577-579)Ggc>Tgc		olfactory receptor, family 4, subfamily A, member 5							60.0	54.0	56.0					11																	51411819		2201	4295	6496	SO:0001583	missense	81318	0	0					g.chr11:51411819C>A	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.577G>T	chr11.hg19:g.51411819C>A	ENSP00000367664:p.Gly193Cys	0						p.G193C	NM_001005272.3	NP_001005272.3	1	2	3	1.993097	Q8NH83	OR4A5_HUMAN		1	629	-		all_lung(304;0.236)	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	1	1	hg19	c.577G>T	CCDS31497.1	1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860521	0.17178	.	.	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	1.93	0.25924	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.135995	0.33364	N	0.004990	T	0.00440	0.0014	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37056	-0.9722	10	0.87932	D	0	.	4.5006	0.11862	0.0:0.804:0.0:0.196	.	193	Q8NH83	OR4A5_HUMAN	C	193	ENSP00000367664:G193C	ENSP00000367664:G193C	G	-	1	0	0	OR4A5	51268395	51268395	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	0.612000	0.24283	1.394000	0.46624	0.162000	0.16502	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001005272			34	34		197	191	1		1			0	0	46	0		1	0	0	0	0	0	0	34	197
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155A(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)				CAATTTGAAACGCAGAATGTA	0.453													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21566	0.002		0.0	False		,,,				2504	0.0					ENST00000319760.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A155A(1)	NS(1)	49						c.(463-465)gcG>gcA		olfactory receptor, family 4, subfamily A, member 5		C		3,4399		0,3,2198	86.0	78.0	81.0		465	0.9	0.0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	81318	41	121392	47				g.chr11:51411931C>T	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.465G>A	chr11.hg19:g.51411931C>T		0						p.A155A	NM_001005272.3	NP_001005272.3	1	2	3	1.993097	Q8NH83	OR4A5_HUMAN		1	517	-		all_lung(304;0.236)	Q6IF84	Silent	SNP	ENST00000319760.6	1	1	hg19	c.465G>A	CCDS31497.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.583078	1	0.170000	NM_001005272			56	54		238	230	1		1			0	0	58	0		1	0	0	0	0	0	0	56	238
OR4C46	119749	broad.mit.edu	37	11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A	rs368077487		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517																																						ENST00000328188.1			0	0																														0				48						c.(628-630)gCc>gAc		olfactory receptor, family 4, subfamily C, member 46							123.0	106.0	112.0					11																	51515910		2201	4296	6497	SO:0001583	missense	119749	0	0					g.chr11:51515910C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.629C>A	chr11.hg19:g.51515910C>A	ENSP00000329056:p.Ala210Asp							p.A210D	NM_001004703.1	NP_001004703.1					A6NHA9	O4C46_HUMAN		1	629	+				Missense_Mutation	SNP	ENST00000328188.1	1	1	hg19	c.629C>A	CCDS31498.1		.	.	.	.	.	.	.	.	.	.	.	1.840	-0.467648	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.39229	1.09	2.47	0.105	0.14535	2.47	0.105	0.14535	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000941	T	0.41811	0.1175	M	0.75777	2.31	0.09310	N	1	B	0.19445	0.036	B	0.32022	0.139	T	0.46527	-0.9185	10	0.72032	D	0.01	.	6.6039	0.22714	0.0:0.4123:0.0:0.5877	.	210	A6NHA9	O4C46_HUMAN	D	210	ENSP00000329056:A210D	ENSP00000329056:A210D	A	+	2	0	0	OR4C46	51372486	51372486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.122000	0.11766	-1.950000	0.00486	GCC			TCGA-IB-7651-01A-11D-2154-08	0.517	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.258548	1	0.170000	NM_001004703			75	73		331	318	1		1			0	0	79	0		1	0	0	0	0	0	0	75	331
OR4C46	119749	broad.mit.edu	37	11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343																																						ENST00000328188.1			0	0																														0				48						c.(883-885)gCc>gTc		olfactory receptor, family 4, subfamily C, member 46							46.0	39.0	41.0					11																	51516165		2200	4287	6487	SO:0001583	missense	119749	7	121332	39				g.chr11:51516165C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.884C>T	chr11.hg19:g.51516165C>T	ENSP00000329056:p.Ala295Val							p.A295V	NM_001004703.1	NP_001004703.1					A6NHA9	O4C46_HUMAN		1	884	+				Missense_Mutation	SNP	ENST00000328188.1	1	1	hg19	c.884C>T	CCDS31498.1		.	.	.	.	.	.	.	.	.	.	.	5.904	0.350805	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.44881	0.91	2.54	1.6	0.23607	2.54	1.6	0.23607	.	0.000000	0.37809	U	0.001934	T	0.35128	0.0921	L	0.58302	1.8	0.23981	N	0.996275	B	0.30727	0.292	B	0.31191	0.125	T	0.29181	-1.0020	10	0.59425	D	0.04	.	7.0259	0.24940	0.0:0.8499:0.0:0.1501	.	295	A6NHA9	O4C46_HUMAN	V	295	ENSP00000329056:A295V	ENSP00000329056:A295V	A	+	2	0	0	OR4C46	51372741	51372741	0.001000	0.12720	0.633000	0.29310	0.093000	0.18481	1.114000	0.31196	0.409000	0.25649	0.186000	0.17326	GCC			TCGA-IB-7651-01A-11D-2154-08	0.343	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	1	0	1		2	2	2	0		0	0	79		79	82	1	2.060000	-20.000000	1	0.170000	NM_001004703			65	64		265	255	1		1			0	0	79	0		1	0	0	0	0	0	0	65	265
OR4A15	81328	broad.mit.edu	37	11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443																																						ENST00000314706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(148-150)gAg>gCg		olfactory receptor, family 4, subfamily A, member 15							69.0	65.0	67.0					11																	55135508		2201	4296	6497	SO:0001583	missense	81328	0	0					g.chr11:55135508A>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.149A>C	chr11.hg19:g.55135508A>C	ENSP00000325065:p.Glu50Ala	1						p.E50A	NM_001005275.1	NP_001005275.1	1	5	6	2.678384	Q8NGL6	O4A15_HUMAN		1	149	+			Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	1	1	hg19	c.149A>C	CCDS31500.1	1	.	.	.	.	.	.	.	.	.	.	a	6.125	0.391311	0.11581	.	.	ENSG00000181958	ENST00000314706	T	0.00438	7.42	3.48	0.908	0.19326	3.48	0.908	0.19326	.	0.125811	0.35495	N	0.003167	T	0.00384	0.0012	M	0.70842	2.15	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43343	-0.9397	10	0.36615	T	0.2	.	7.5998	0.28069	0.5696:0.4304:0.0:0.0	.	50	Q8NGL6	O4A15_HUMAN	A	50	ENSP00000325065:E50A	ENSP00000325065:E50A	E	+	2	0	0	OR4A15	54892084	54892084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	-0.017000	0.14103	-0.677000	0.03784	GAG	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_001005275			54	52		268	264	1		1			0	0	73	0		1	0	0	0	0	0	0	54	268
OR4A15	81328	broad.mit.edu	37	11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428																																						ENST00000314706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(586-588)ttC>ttA		olfactory receptor, family 4, subfamily A, member 15							134.0	124.0	128.0					11																	55135947		2201	4293	6494	SO:0001583	missense	81328	0	0					g.chr11:55135947C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.588C>A	chr11.hg19:g.55135947C>A	ENSP00000325065:p.Phe196Leu	1						p.F196L	NM_001005275.1	NP_001005275.1	1	5	6	2.678384	Q8NGL6	O4A15_HUMAN		1	588	+			Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	1	1	hg19	c.588C>A	CCDS31500.1	1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.612928	0.46631	.	.	ENSG00000181958	ENST00000314706	T	0.00039	8.85	3.48	2.53	0.30540	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.122467	0.37219	N	0.002196	T	0.00328	0.0010	M	0.71206	2.165	0.26873	N	0.967715	D	0.60575	0.988	D	0.64595	0.927	T	0.41142	-0.9525	10	0.87932	D	0	.	5.9037	0.18980	0.0:0.7489:0.0:0.2511	.	196	Q8NGL6	O4A15_HUMAN	L	196	ENSP00000325065:F196L	ENSP00000325065:F196L	F	+	3	2	2	OR4A15	54892523	54892523	0.685000	0.27652	0.947000	0.38551	0.708000	0.40852	-0.010000	0.12743	0.635000	0.30488	0.492000	0.49549	TTC	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	1	0	1		2	2	2	0		0	0	125		125	142	1	2.060000	-20.000000	1	0.170000	NM_001005275			134	127		610	577	1		1			0	0	125	0		1	0	0	0	0	0	0	134	610
OR4A15	81328	broad.mit.edu	37	11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413																																						ENST00000314706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(838-840)gTc>gCc		olfactory receptor, family 4, subfamily A, member 15							254.0	241.0	245.0					11																	55136198		2201	4296	6497	SO:0001583	missense	81328	2	121410	38				g.chr11:55136198T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.839T>C	chr11.hg19:g.55136198T>C	ENSP00000325065:p.Val280Ala	1						p.V280A	NM_001005275.1	NP_001005275.1	1	5	6	2.678384	Q8NGL6	O4A15_HUMAN		1	839	+			Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	1	1	hg19	c.839T>C	CCDS31500.1	1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449808	0.63290	.	.	ENSG00000181958	ENST00000314706	T	0.38240	1.15	3.65	2.51	0.30379	3.65	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000387	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	0.999992	P	0.40000	0.698	P	0.47075	0.536	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.854	0.24030	0.0:0.1169:0.0:0.8831	.	280	Q8NGL6	O4A15_HUMAN	A	280	ENSP00000325065:V280A	ENSP00000325065:V280A	V	+	2	0	0	OR4A15	54892774	54892774	0.000000	0.05858	0.110000	0.21437	0.467000	0.32768	-0.314000	0.08092	0.488000	0.27723	0.403000	0.27427	GTC	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	0	0	1		2	2	2	0		0	0	237		237	234	1	2.060000	-20.000000	1	0.170000	NM_001005275			223	220		979	956	1		1			0	0	237	0		1	0	0	0	0	0	0	223	979
OR4C11	219429	broad.mit.edu	37	11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443																																						ENST00000302231.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(757-759)Ata>Gta		olfactory receptor, family 4, subfamily C, member 11							67.0	57.0	60.0					11																	55371093		2179	4005	6184	SO:0001583	missense	219429	0	0					g.chr11:55371093T>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.757A>G	chr11.hg19:g.55371093T>C	ENSP00000306651:p.Ile253Val	1						p.I253V	NM_001004700.2	NP_001004700.2	1	5	6	2.678384	Q6IEV9	OR4CB_HUMAN		1	781	-			B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	1	1	hg19	c.757A>G	CCDS31503.1	1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256781	0.22965	.	.	ENSG00000172188	ENST00000302231	T	0.38887	1.11	4.12	2.99	0.34606	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.112156	0.39083	N	0.001478	T	0.39091	0.1065	L	0.49640	1.575	0.09310	N	0.999997	B	0.25312	0.123	B	0.34590	0.186	T	0.38824	-0.9643	10	0.54805	T	0.06	.	8.5156	0.33244	0.0:0.0955:0.0:0.9045	.	253	Q6IEV9	OR4CB_HUMAN	V	253	ENSP00000306651:I253V	ENSP00000306651:I253V	I	-	1	0	0	OR4C11	55127669	55127669	0.000000	0.05858	0.836000	0.33094	0.019000	0.09904	-0.592000	0.05747	0.755000	0.32990	0.391000	0.25812	ATA	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001004700			87	87		349	343	1		1			0	0	76	0		1	0	0	0	0	0	0	87	349
OR4C11	219429	broad.mit.edu	37	11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398																																						ENST00000302231.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998841	0.990000	1.000000																										0				33						c.(607-609)gCa>gTa		olfactory receptor, family 4, subfamily C, member 11							87.0	72.0	78.0					11																	55371242		2179	4012	6191	SO:0001583	missense	219429	0	0					g.chr11:55371242G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.608C>T	chr11.hg19:g.55371242G>A	ENSP00000306651:p.Ala203Val	1						p.A203V	NM_001004700.2	NP_001004700.2	1	5	6	2.678384	Q6IEV9	OR4CB_HUMAN		1	632	-			B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	1	1	hg19	c.608C>T	CCDS31503.1	1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603905	0.03717	.	.	ENSG00000172188	ENST00000302231	T	0.34859	1.34	4.34	0.186	0.15105	4.34	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.09555	0.0235	N	0.03194	-0.395	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22417	-1.0217	10	0.02654	T	1	.	0.6945	0.00897	0.2468:0.1829:0.3829:0.1874	.	203	Q6IEV9	OR4CB_HUMAN	V	203	ENSP00000306651:A203V	ENSP00000306651:A203V	A	-	2	0	0	OR4C11	55127818	55127818	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-1.028000	0.03589	0.195000	0.20347	-0.349000	0.07799	GCA	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-12.319450	1	0.170000	NM_001004700			41	40		429	422	0		1			0	0	83	0		1	0	0	0	0	0	0	41	429
OR4C11	219429	broad.mit.edu	37	11	55371419	55371419	+	Missense_Mutation	SNP	A	A	C	rs555433759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371419A>C	ENST00000302231.4	-	1	455	c.431T>G	c.(430-432)gTt>gGt	p.V144G		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCAGGCAAGAACAATCAGGAT	0.453																																						ENST00000302231.4	0.930000	0.350000	7.700000e-01	4.700000e-01	0.610000	0.627125	0.610000	0.610000																										0				33						c.(430-432)gTt>gGt		olfactory receptor, family 4, subfamily C, member 11							81.0	69.0	73.0					11																	55371419		2176	4009	6185	SO:0001583	missense	219429	0	0					g.chr11:55371419A>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.431T>G	chr11.hg19:g.55371419A>C	ENSP00000306651:p.Val144Gly	1						p.V144G	NM_001004700.2	NP_001004700.2	1	5	6	2.678384	Q6IEV9	OR4CB_HUMAN		1	455	-			B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	1	1	hg19	c.431T>G	CCDS31503.1	0	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.240870	0.01493	.	.	ENSG00000172188	ENST00000302231	T	0.38240	1.15	4.34	1.93	0.25924	4.34	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.25606	0.0623	N	0.11789	0.175	0.09310	N	1	B	0.33171	0.4	B	0.43018	0.405	T	0.40776	-0.9545	10	0.18710	T	0.47	.	4.2955	0.10899	0.6869:0.2051:0.108:0.0	.	144	Q6IEV9	OR4CB_HUMAN	G	144	ENSP00000306651:V144G	ENSP00000306651:V144G	V	-	2	0	0	OR4C11	55127995	55127995	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.138000	0.03216	0.292000	0.22492	0.391000	0.25812	GTT	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	0	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-16.191180	1	0.170000	NM_001004700			16	16		407	398	0		1			0	0	102	0		9.999240e-01	0	0	0	0	0	0	16	407
OR4P4	81300	broad.mit.edu	37	11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448																																						ENST00000314612.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(292-294)caA>caC		olfactory receptor, family 4, subfamily P, member 4							116.0	100.0	106.0					11																	55406127		2179	4018	6197	SO:0001583	missense	81300	0	0					g.chr11:55406127A>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.294A>C	chr11.hg19:g.55406127A>C	ENSP00000324831:p.Gln98His	1						p.Q98H	NM_001004124.1	NP_001004124.1	1	5	6	2.678384	Q8NGL7	OR4P4_HUMAN		1	294	+				Missense_Mutation	SNP	ENST00000314612.2	1	1	hg19	c.294A>C	CCDS31504.1	1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509718	0.27036	.	.	ENSG00000181927	ENST00000314612	T	0.00472	7.19	5.18	-1.46	0.08800	5.18	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001567	T	0.01489	0.0048	H	0.95004	3.61	0.23693	N	0.997095	D	0.76494	0.999	D	0.70227	0.968	T	0.28332	-1.0047	10	0.87932	D	0	-2.1273	6.2509	0.20845	0.3697:0.1177:0.5126:0.0	.	98	Q8NGL7	OR4P4_HUMAN	H	98	ENSP00000324831:Q98H	ENSP00000324831:Q98H	Q	+	3	2	2	OR4P4	55162703	55162703	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.000000	0.03693	-0.297000	0.08934	-0.261000	0.10672	CAA	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_001004124			129	123		546	535	1		1			0	0	113	0		1	0	0	0	0	0	0	129	546
OR4S2	219431	broad.mit.edu	37	11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393																																						ENST00000312422.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(166-168)cCc>cTc		olfactory receptor, family 4, subfamily S, member 2							244.0	193.0	211.0					11																	55418546		2181	4046	6227	SO:0001583	missense	219431	0	0					g.chr11:55418546C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.167C>T	chr11.hg19:g.55418546C>T	ENSP00000310337:p.Pro56Leu	1						p.P56L	NM_001004059.2	NP_001004059.2	1	5	6	2.678384	Q8NH73	OR4S2_HUMAN		1	167	+		all_epithelial(135;0.0748)	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	1	1	hg19	c.167C>T	CCDS31505.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410657	0.62399	.	.	ENSG00000174982	ENST00000312422	T	0.02032	4.49	5.36	5.36	0.76844	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20047	0.0482	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.87932	D	0	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	L	56	ENSP00000310337:P56L	ENSP00000310337:P56L	P	+	2	0	0	OR4S2	55175122	55175122	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	1	0	1		2	2	2	0		0	0	151		151	152	1	2.060000	-2.879461	1	0.170000	NM_001004059			119	117		744	729	1		1			0	0	151	0		1	0	0	0	0	0	0	119	744
OR5D13	390142	broad.mit.edu	37	11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				GTCTCAGAAGCTCTGTGCTCT	0.428																																						ENST00000361760.1			0	0																														0				40						c.(424-426)Ctc>Atc		olfactory receptor, family 5, subfamily D, member 13							216.0	216.0	216.0					11																	55541337		2200	4296	6496	SO:0001583	missense	390142	0	0					g.chr11:55541337C>A	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.424C>A	chr11.hg19:g.55541337C>A	ENSP00000354800:p.Leu142Ile							p.L142I	NM_001001967.1	NP_001001967.1					Q8NGL4	OR5DD_HUMAN		1	424	+		all_epithelial(135;0.196)	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	1	1	hg19	c.424C>A	CCDS31507.1		.	.	.	.	.	.	.	.	.	.	C	12.17	1.857061	0.32791	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.2	2.28	0.28536	3.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.632696	0.12068	U	0.502545	T	0.00328	0.0010	M	0.63169	1.94	0.09310	N	1	B	0.31989	0.35	P	0.48524	0.58	T	0.22138	-1.0225	10	0.27082	T	0.32	-4.8549	9.2055	0.37287	0.0:0.8862:0.0:0.1138	.	142	Q8NGL4	OR5DD_HUMAN	I	142	ENSP00000354800:L142I	ENSP00000354800:L142I	L	+	1	0	0	OR5D13	55297913	55297913	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.974000	0.03794	0.714000	0.32081	0.409000	0.27619	CTC			TCGA-IB-7651-01A-11D-2154-08	0.428	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	1	0	1		2	2	2	0		0	0	196		196	195	1	2.060000	-20.000000	1	0.170000	NM_001001967			160	161		790	774	1		1			0	0	196	0		1	0	0	0	0	0	0	160	790
OR5D18	219438	broad.mit.edu	37	11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A	rs547181833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				GGGCTTCTCAGATTACCCAGA	0.428																																						ENST00000333976.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(58-60)Gat>Aat		olfactory receptor, family 5, subfamily D, member 18							117.0	110.0	112.0					11																	55587163		2200	4296	6496	SO:0001583	missense	219438	0	0					g.chr11:55587163G>A	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.58G>A	chr11.hg19:g.55587163G>A	ENSP00000335025:p.Asp20Asn	0						p.D20N	NM_001001952.1	NP_001001952.1	1	2	3	2.000915	Q8NGL1	OR5DI_HUMAN		1	78	+		all_epithelial(135;0.208)	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	1	1	hg19	c.58G>A	CCDS31510.1	1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228406	0.58777	.	.	ENSG00000186119	ENST00000333976	T	0.00433	7.43	5.18	3.3	0.37823	5.18	3.3	0.37823	.	0.390655	0.18927	N	0.127316	T	0.00328	0.0010	L	0.29908	0.895	0.29344	N	0.865858	B	0.10296	0.003	B	0.24394	0.053	T	0.21861	-1.0233	10	0.42905	T	0.14	-14.4095	10.7949	0.46455	0.1567:0.0:0.8433:0.0	.	20	Q8NGL1	OR5DI_HUMAN	N	20	ENSP00000335025:D20N	ENSP00000335025:D20N	D	+	1	0	0	OR5D18	55343739	55343739	0.003000	0.15002	0.987000	0.45799	0.995000	0.86356	0.869000	0.27996	0.722000	0.32252	0.632000	0.83419	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_001001952			89	87		280	273	1		1			0	0	67	0		1	0	0	0	0	0	0	89	280
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TCAAAGTGGCCTCTGTGTTTT	0.498																																						ENST00000333976.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(823-825)gcC>gcT		olfactory receptor, family 5, subfamily D, member 18							90.0	88.0	88.0					11																	55587930		2200	4296	6496	SO:0001819	synonymous_variant	219438	0	0					g.chr11:55587930C>T	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.825C>T	chr11.hg19:g.55587930C>T		0						p.A275A	NM_001001952.1	NP_001001952.1	1	2	3	2.000915	Q8NGL1	OR5DI_HUMAN		1	845	+		all_epithelial(135;0.208)	Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	1	1	hg19	c.825C>T	CCDS31510.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.871107	1	0.170000	NM_001001952			81	80		303	289	1		1			0	0	83	0		1	0	0	0	0	0	0	81	303
OR5L2	26338	broad.mit.edu	37	11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TACAGCCTGAGAAATAAGGAT	0.473										HNSCC(27;0.073)																												ENST00000378397.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(877-879)aGa>aAa		olfactory receptor, family 5, subfamily L, member 2							47.0	48.0	48.0					11																	55595572		2200	4296	6496	SO:0001583	missense	26338	0	0					g.chr11:55595572G>A	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.878G>A	chr11.hg19:g.55595572G>A	ENSP00000367650:p.Arg293Lys	0	HNSCC(27;0.073)					p.R293K	NM_001004739.1	NP_001004739.1	1	2	3	2.000915	Q8NGL0	OR5L2_HUMAN		1	878	+		all_epithelial(135;0.208)	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	1	1	hg19	c.878G>A	CCDS31511.1	1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792977	0.50102	.	.	ENSG00000205030	ENST00000378397	T	0.39997	1.05	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000018	T	0.52677	0.1749	M	0.79343	2.45	0.31168	N	0.703581	P	0.50943	0.94	P	0.46208	0.507	T	0.65421	-0.6172	10	0.59425	D	0.04	-22.9325	17.1913	0.86880	0.0:0.0:1.0:0.0	.	293	Q8NGL0	OR5L2_HUMAN	K	293	ENSP00000367650:R293K	ENSP00000367650:R293K	R	+	2	0	0	OR5L2	55352148	55352148	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	5.069000	0.64370	2.471000	0.83476	0.536000	0.68110	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_001004739			52	52		186	183	1		1			0	0	67	0		1	0	0	0	0	0	0	52	186
OR5D16	390144	broad.mit.edu	37	11	55606350	55606350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443																																						ENST00000378396.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(121-123)gtG>gtA		olfactory receptor, family 5, subfamily D, member 16							141.0	135.0	137.0					11																	55606350		2201	4296	6497	SO:0001819	synonymous_variant	390144	0	0					g.chr11:55606350G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.123G>A	chr11.hg19:g.55606350G>A		0						p.V41V	NM_001005496.1	NP_001005496.1	1	2	3	2.000915	Q8NGK9	OR5DG_HUMAN		1	123	+		all_epithelial(135;0.208)	Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	1	1	hg19	c.123G>A	CCDS31512.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	1	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-2.810010	1	0.170000	NM_001005496			144	138		719	706	1		1			0	0	156	0		1	0	0	0	0	0	0	144	719
OR5D16	390144	broad.mit.edu	37	11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433																																						ENST00000378396.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(349-351)tTt>tGt		olfactory receptor, family 5, subfamily D, member 16							123.0	119.0	120.0					11																	55606577		2201	4296	6497	SO:0001583	missense	390144	0	0					g.chr11:55606577T>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.350T>G	chr11.hg19:g.55606577T>G	ENSP00000367649:p.Phe117Cys	0						p.F117C	NM_001005496.1	NP_001005496.1	1	2	3	2.000915	Q8NGK9	OR5DG_HUMAN		1	350	+		all_epithelial(135;0.208)	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	1	1	hg19	c.350T>G	CCDS31512.1	1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844326	0.51164	.	.	ENSG00000205029	ENST00000378396	T	0.01359	4.98	4.47	3.31	0.37934	4.47	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	L	0.36672	1.1	0.19575	N	0.999961	D	0.57257	0.979	P	0.61275	0.886	T	0.44174	-0.9345	9	0.87932	D	0	-27.7796	8.5801	0.33623	0.0:0.0997:0.0:0.9003	.	117	Q8NGK9	OR5DG_HUMAN	C	117	ENSP00000367649:F117C	ENSP00000367649:F117C	F	+	2	0	0	OR5D16	55363153	55363153	0.831000	0.29352	0.002000	0.10522	0.757000	0.42996	5.597000	0.67577	0.694000	0.31654	0.433000	0.28618	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	0	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_001005496			158	155		613	604	1		1			0	0	160	0		1	0	0	0	0	0	0	158	613
OR5W2	390148	broad.mit.edu	37	11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(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						AGGGTGTAAAACAATGAGGTC	0.393																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				49						c.(829-831)Ttt>Gtt		olfactory receptor, family 5, subfamily W, member 2							60.0	67.0	65.0					11																	55681230		2201	4296	6497	SO:0001583	missense	390148	1	121408	30				g.chr11:55681230A>C	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.829T>G	chr11.hg19:g.55681230A>C	ENSP00000342448:p.Phe277Val	0						p.F277V	NM_001001960.1	NP_001001960.1	1	2	3	2.000915	Q8NH69	OR5W2_HUMAN		1	828	-				Missense_Mutation	SNP	ENST00000344514.1	1	1	hg19	c.829T>G	CCDS31513.1	1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896046	0.33442	.	.	ENSG00000187612	ENST00000344514	T	0.00158	8.65	5.01	3.87	0.44632	5.01	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000882	T	0.00384	0.0012	M	0.74881	2.28	0.20926	N	0.999825	D	0.67145	0.996	D	0.74023	0.982	T	0.41502	-0.9505	10	0.87932	D	0	.	6.6093	0.22743	0.8109:0.0:0.1891:0.0	.	277	Q8NH69	OR5W2_HUMAN	V	277	ENSP00000342448:F277V	ENSP00000342448:F277V	F	-	1	0	0	OR5W2	55437806	55437806	0.008000	0.16893	0.241000	0.24154	0.243000	0.25628	1.659000	0.37387	0.748000	0.32831	0.448000	0.29417	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-17.417470	1	0.170000	NM_001001960			34	34		191	190	1		1			0	0	57	0		1	0	0	0	0	0	0	34	191
OR5F1	338674	broad.mit.edu	37	11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	115					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)			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)					ATTAACCCAAAGAGGATGCAT	0.493																																						ENST00000278409.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(343-345)Ttt>Ctt		olfactory receptor, family 5, subfamily F, member 1							78.0	77.0	77.0					11																	55761759		2201	4296	6497	SO:0001583	missense	338674	0	0					g.chr11:55761759A>G	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.343T>C	chr11.hg19:g.55761759A>G	ENSP00000278409:p.Phe115Leu	0						p.F115L	NM_003697.1	NP_003688.1	1	2	3	2.000915	O95221	OR5F1_HUMAN		1	342	-	Esophageal squamous(21;0.00448)		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	1	1	hg19	c.343T>C	CCDS31515.1	1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323286	0.01309	.	.	ENSG00000149133	ENST00000278409	T	0.00824	5.65	2.92	0.386	0.16254	2.92	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.00014	-2.905	0.09310	N	1	B	0.23735	0.09	B	0.22386	0.039	T	0.43750	-0.9372	9	0.02654	T	1	.	6.2785	0.20993	0.4996:0.0:0.5004:0.0	.	115	O95221	OR5F1_HUMAN	L	115	ENSP00000278409:F115L	ENSP00000278409:F115L	F	-	1	0	0	OR5F1	55518335	55518335	0.035000	0.19736	0.306000	0.25113	0.499000	0.33736	0.295000	0.19065	0.191000	0.20236	0.247000	0.18012	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_003697			100	95		491	481	1		1			0	0	119	0		1	0	0	0	0	0	0	100	491
OR5AS1	219447	broad.mit.edu	37	11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458																																						ENST00000313555.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(391-393)Ctc>Ttc		olfactory receptor, family 5, subfamily AS, member 1							155.0	126.0	136.0					11																	55798285		2201	4296	6497	SO:0001583	missense	219447	0	0					g.chr11:55798285C>T	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.391C>T	chr11.hg19:g.55798285C>T	ENSP00000324111:p.Leu131Phe	0						p.L131F	NM_001001921.1	NP_001001921.1	1	2	3	2.000915	Q8N127	O5AS1_HUMAN		1	391	+	Esophageal squamous(21;0.00693)		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	1	1	hg19	c.391C>T	CCDS31516.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927250	0.34002	.	.	ENSG00000181785	ENST00000313555	T	0.00760	5.73	5.46	4.46	0.54185	5.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.280065	0.19121	U	0.122191	T	0.02848	0.0085	M	0.83312	2.635	0.19300	N	0.999978	D	0.53619	0.961	P	0.50405	0.64	T	0.29518	-1.0009	10	0.45353	T	0.12	.	15.7281	0.77780	0.1459:0.854:0.0:0.0	.	131	Q8N127	O5AS1_HUMAN	F	131	ENSP00000324111:L131F	ENSP00000324111:L131F	L	+	1	0	0	OR5AS1	55554861	55554861	0.951000	0.32395	0.939000	0.37840	0.020000	0.10135	2.180000	0.42537	2.557000	0.86248	0.643000	0.83706	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001001921			78	78		371	360	1		1			0	0	77	0		1	0	0	0	0	0	0	78	371
OR5AS1	219447	broad.mit.edu	37	11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289																																						ENST00000313555.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999750	0.990000	1.000000																										0				48						c.(925-927)gGa>gTa		olfactory receptor, family 5, subfamily AS, member 1							46.0	53.0	51.0					11																	55798820		2197	4294	6491	SO:0001583	missense	219447	0	0					g.chr11:55798820G>T	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.926G>T	chr11.hg19:g.55798820G>T	ENSP00000324111:p.Gly309Val	0						p.G309V	NM_001001921.1	NP_001001921.1	1	2	3	2.000915	Q8N127	O5AS1_HUMAN		1	926	+	Esophageal squamous(21;0.00693)		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	1	1	hg19	c.926G>T	CCDS31516.1	1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563982	0.00903	.	.	ENSG00000181785	ENST00000313555	T	0.00355	7.91	3.1	-1.18	0.09617	3.1	-1.18	0.09617	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	9	0.15499	T	0.54	.	3.8059	0.08777	0.2877:0.0:0.4271:0.2851	.	309	Q8N127	O5AS1_HUMAN	V	309	ENSP00000324111:G309V	ENSP00000324111:G309V	G	+	2	0	0	OR5AS1	55555396	55555396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.628000	0.05515	-0.586000	0.05898	-3.086000	0.00065	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.319296	1	0.170000	NM_001001921			37	35		248	239	1		1			0	0	59	0		1	0	0	0	0	0	0	37	248
OR8H2	390151	broad.mit.edu	37	11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, 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)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363										HNSCC(53;0.14)																												ENST00000313503.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(811-813)Gat>Tat		olfactory receptor, family 8, subfamily H, member 2							83.0	87.0	86.0					11																	55873329		2201	4295	6496	SO:0001583	missense	390151	0	0					g.chr11:55873329G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.811G>T	chr11.hg19:g.55873329G>T	ENSP00000323982:p.Asp271Tyr	0	HNSCC(53;0.14)					p.D271Y	NM_001005200.1	NP_001005200.1	1	2	3	2.000915	Q8N162	OR8H2_HUMAN		1	811	+	Esophageal squamous(21;0.00693)		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	1	1	hg19	c.811G>T	CCDS31518.1	1	.	.	.	.	.	.	.	.	.	.	g	7.949	0.744428	0.15710	.	.	ENSG00000181767	ENST00000313503	T	0.00256	8.42	3.58	2.64	0.31445	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00384	0.0012	M	0.89715	3.055	0.09310	N	1	P	0.42409	0.779	P	0.48738	0.588	T	0.21930	-1.0231	10	0.87932	D	0	.	5.563	0.17154	0.174:0.0:0.6649:0.1611	.	271	Q8N162	OR8H2_HUMAN	Y	271	ENSP00000323982:D271Y	ENSP00000323982:D271Y	D	+	1	0	0	OR8H2	55629905	55629905	0.000000	0.05858	0.382000	0.26119	0.058000	0.15608	-0.479000	0.06567	0.788000	0.33755	0.440000	0.28878	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_001005200			101	96		413	409	1		1			0	0	105	0		1	0	0	0	0	0	0	101	413
OR8H3	390152	broad.mit.edu	37	11	55890184	55890184	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CTGCTGAATGTTATCTTCTCT	0.458																																						ENST00000313472.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(334-336)tgT>tgC		olfactory receptor, family 8, subfamily H, member 3							279.0	267.0	271.0					11																	55890184		2201	4296	6497	SO:0001819	synonymous_variant	390152	0	0					g.chr11:55890184T>C	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.336T>C	chr11.hg19:g.55890184T>C		0						p.C112C	NM_001005201.1	NP_001005201.1	1	2	3	2.000915	Q8N146	OR8H3_HUMAN		1	336	+	Esophageal squamous(21;0.00693)		Q6IFB7	Silent	SNP	ENST00000313472.3	1	1	hg19	c.336T>C	CCDS31519.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	1	0	1		2	2	2	0		0	0	352		352	355	1	2.060000	-20.000000	1	0.170000	NM_001005201			280	274		1330	1306	0		1			0	0	352	0		1	0	0	0	0	0	0	280	1330
OR8H3	390152	broad.mit.edu	37	11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GACTCCTTTGTCAATGTGGTT	0.448																																						ENST00000313472.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.992682	0.990000	1.000000																										0				42						c.(472-474)gTc>gCc		olfactory receptor, family 8, subfamily H, member 3							225.0	199.0	208.0					11																	55890321		2201	4296	6497	SO:0001583	missense	390152	0	0					g.chr11:55890321T>C	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.473T>C	chr11.hg19:g.55890321T>C	ENSP00000323928:p.Val158Ala	0						p.V158A	NM_001005201.1	NP_001005201.1	1	2	3	2.000915	Q8N146	OR8H3_HUMAN		1	473	+	Esophageal squamous(21;0.00693)		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	1	1	hg19	c.473T>C	CCDS31519.1	1	.	.	.	.	.	.	.	.	.	.	T	2.812	-0.246693	0.05867	.	.	ENSG00000181761	ENST00000313472	T	0.37915	1.17	3.62	1.21	0.21127	3.62	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.117260	0.06780	N	0.785094	T	0.27098	0.0664	L	0.35542	1.07	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.33189	-0.9878	10	0.22109	T	0.4	.	6.0785	0.19928	0.0:0.3827:0.0:0.6173	.	158	Q8N146	OR8H3_HUMAN	A	158	ENSP00000323928:V158A	ENSP00000323928:V158A	V	+	2	0	0	OR8H3	55646897	55646897	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.117000	0.15583	0.401000	0.25424	0.145000	0.16022	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	0	0	1		2	2	2	1		1	0	214		214	214	1	2.060000	-19.999910	1	0.170000	NM_001005201			89	87		859	842	0		1			1	0	214	0		1	0	0	0	0	0	0	89	859
OR8J3	81168	broad.mit.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433																																						ENST00000301529.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(190-192)agA>agT		olfactory receptor, family 8, subfamily J, member 3							143.0	139.0	140.0					11																	55905003		2201	4296	6497	SO:0001583	missense	81168	0	0					g.chr11:55905003T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.192A>T	chr11.hg19:g.55905003T>A	ENSP00000301529:p.Arg64Ser	0						p.R64S	NM_001004064.1	NP_001004064.1	1	2	3	2.000915	Q8NGG0	OR8J3_HUMAN		1	191	-	Esophageal squamous(21;0.00693)		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	1	1	hg19	c.192A>T	CCDS31520.1	1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	2	OR8J3	55661579	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_001004064			137	136		563	555	1		1			0	0	128	0		1	0	0	0	0	0	0	137	563
OR8K5	219453	broad.mit.edu	37	11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413																																						ENST00000313447.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(751-753)ttC>ttA		olfactory receptor, family 8, subfamily K, member 5							98.0	89.0	92.0					11																	55927041		2201	4296	6497	SO:0001583	missense	219453	0	0					g.chr11:55927041G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.753C>A	chr11.hg19:g.55927041G>T	ENSP00000323853:p.Phe251Leu	0						p.F251L	NM_001004058.2	NP_001004058.2	1	2	3	2.000915	Q8NH50	OR8K5_HUMAN		1	752	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	1	1	hg19	c.753C>A	CCDS31521.1	1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322342	0.60634	.	.	ENSG00000181752	ENST00000313447	T	0.00285	8.3	3.98	3.98	0.46160	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00608	0.0020	M	0.83692	2.655	0.26738	N	0.970449	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	10	0.56958	D	0.05	.	8.3924	0.32537	0.1134:0.0:0.8866:0.0	.	251	Q8NH50	OR8K5_HUMAN	L	251	ENSP00000323853:F251L	ENSP00000323853:F251L	F	-	3	2	2	OR8K5	55683617	55683617	0.000000	0.05858	0.990000	0.47175	0.977000	0.68977	-0.172000	0.09868	2.202000	0.70862	0.465000	0.42564	TTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_001004058			66	64		283	279	1		1			0	0	75	0		1	0	0	0	0	0	0	66	283
OR8K5	219453	broad.mit.edu	37	11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413																																						ENST00000313447.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(442-444)cAa>cCa		olfactory receptor, family 8, subfamily K, member 5							90.0	91.0	90.0					11																	55927351		2201	4296	6497	SO:0001583	missense	219453	1	121412	31				g.chr11:55927351T>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.443A>C	chr11.hg19:g.55927351T>G	ENSP00000323853:p.Gln148Pro	0						p.Q148P	NM_001004058.2	NP_001004058.2	1	2	3	2.000915	Q8NH50	OR8K5_HUMAN		1	442	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	1	1	hg19	c.443A>C	CCDS31521.1	1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.573329	0.00131	.	.	ENSG00000181752	ENST00000313447	T	0.36520	1.25	4.18	2.27	0.28462	4.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.110804	0.41001	N	0.000980	T	0.06188	0.0160	N	0.00095	-2.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.07175	T	0.84	.	8.1569	0.31173	0.0873:0.0:0.7549:0.1577	.	148	Q8NH50	OR8K5_HUMAN	P	148	ENSP00000323853:Q148P	ENSP00000323853:Q148P	Q	-	2	0	0	OR8K5	55683927	55683927	0.000000	0.05858	0.022000	0.16811	0.358000	0.29455	-0.388000	0.07352	0.503000	0.28060	-1.479000	0.00991	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_001004058			59	58		341	337	1		1			0	0	95	0		1	0	0	0	0	0	0	59	341
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs569178244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413													g|||	2	0.000399361	0.0	0.0	5008	,	,		20817	0.002		0.0	False		,,,				2504	0.0					ENST00000313033.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(400-402)cGc>cAc		olfactory receptor, family 5, subfamily T, member 1							217.0	189.0	198.0					11																	56043515		2201	4294	6495	SO:0001583	missense	390155	23	121412	49				g.chr11:56043515G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.401G>A	chr11.hg19:g.56043515G>A	ENSP00000323612:p.Arg134His	0						p.R134H	NM_001004745.1	NP_001004745.1	1	2	3	2.000915	Q8NG75	OR5T1_HUMAN		1	487	+	Esophageal squamous(21;0.00448)		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	1	1	hg19	c.401G>A	CCDS31525.1	1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881976	0.51908	.	.	ENSG00000181698	ENST00000313033	T	0.77489	-1.1	3.44	2.52	0.30459	3.44	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.79446	0.4447	M	0.90019	3.08	0.30003	N	0.815822	B	0.28552	0.215	B	0.27715	0.082	T	0.77859	-0.2431	10	0.72032	D	0.01	.	9.96	0.41691	0.1046:0.0:0.8954:0.0	.	134	Q8NG75	OR5T1_HUMAN	H	134	ENSP00000323612:R134H	ENSP00000323612:R134H	R	+	2	0	0	OR5T1	55800091	55800091	0.795000	0.28851	0.070000	0.20053	0.971000	0.66376	4.024000	0.57218	0.795000	0.33922	0.465000	0.42564	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	1	0	1		2	2	2	0		0	0	194		194	204	1	2.060000	-20.000000	1	0.170000	NM_001004745			151	147		866	844	1		1			0	0	194	0		1	0	0	0	0	0	0	151	866
OR5T1	390155	broad.mit.edu	37	11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T	rs374592813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACAGTTTGCGGAACAAAGA	0.338													c|||	4	0.000798722	0.0015	0.0	5008	,	,		20909	0.0		0.0	False		,,,				2504	0.002					ENST00000313033.2	1.000000	0.350000	6.900000e-01	4.400000e-01	0.540000	0.578609	0.540000	0.540000																										1	Substitution - Missense(1)	p.R305W(1)	kidney(1)	43						c.(913-915)Cgg>Tgg		olfactory receptor, family 5, subfamily T, member 1		C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	99.0	94.0	95.0		913	2.5	1.0	11		95	0,8592		0,0,4296	no	missense	OR5T1	NM_001004745.1	101	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	305/327	56044027	1,12993	2201	4296	6497	SO:0001583	missense	390155	27	121412	46				g.chr11:56044027C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.913C>T	chr11.hg19:g.56044027C>T	ENSP00000323612:p.Arg305Trp	0						p.R305W	NM_001004745.1	NP_001004745.1	1	2	3	2.000915	Q8NG75	OR5T1_HUMAN		1	999	+	Esophageal squamous(21;0.00448)		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	1	1	hg19	c.913C>T	CCDS31525.1	0	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	2	OR5T1	55800603	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	1	0	1		17	2	2	1		1	1	108		108	108	1	2.060000	-3.004488	1	0.170000	NM_001004745			24	24		508	505	0		1			1	0	108	0		8.945335e-01	0	0	0	0	0	0	24	508
OR8J1	219477	broad.mit.edu	37	11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CAACATCTGGCTCTCATTAAT	0.443																																						ENST00000303039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(199-201)gCt>gTt		olfactory receptor, family 8, subfamily J, member 1		C	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	171.0	153.0	159.0		200	4.6	0.5	11	dbSNP_134	159	0,8592		0,0,4296	no	missense	OR8J1	NM_001005205.2	64	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	67/317	56127922	1,12993	2201	4296	6497	SO:0001583	missense	219477	2	121410	34				g.chr11:56127922C>T	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.200C>T	chr11.hg19:g.56127922C>T	ENSP00000304060:p.Ala67Val	0						p.A67V	NM_001005205.2	NP_001005205.2	1	2	3	2.000915	Q8NGP2	OR8J1_HUMAN		1	232	+	Esophageal squamous(21;0.00448)		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	1	1	hg19	c.200C>T	CCDS31529.1	1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068390	0.36470	2.27E-4	0.0	ENSG00000172487	ENST00000303039	T	0.03152	4.03	4.57	4.57	0.56435	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.14570	0.0352	M	0.92738	3.34	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.15723	-1.0427	10	0.87932	D	0	.	12.2274	0.54468	0.0:0.8277:0.1723:0.0	.	67	Q8NGP2	OR8J1_HUMAN	V	67	ENSP00000304060:A67V	ENSP00000304060:A67V	A	+	2	0	0	OR8J1	55884498	55884498	0.000000	0.05858	0.485000	0.27403	0.092000	0.18411	1.193000	0.32162	2.255000	0.74692	0.643000	0.83706	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_001005205			117	115		490	484	1		1			0	0	116	0		1	0	0	0	0	0	0	117	490
OR5R1	219479	broad.mit.edu	37	11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423																																						ENST00000312253.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(577-579)cAc>cCc		olfactory receptor, family 5, subfamily R, member 1							99.0	84.0	89.0					11																	56185131		2201	4295	6496	SO:0001583	missense	219479	0	0					g.chr11:56185131T>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.578A>C	chr11.hg19:g.56185131T>G	ENSP00000308595:p.His193Pro	0						p.H193P	NM_001004744.1	NP_001004744.1	1	2	3	2.000915	Q8NH85	OR5R1_HUMAN		1	577	-	Esophageal squamous(21;0.00448)			Missense_Mutation	SNP	ENST00000312253.1	1	1	hg19	c.578A>C	CCDS31530.1	1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.823943	0.50739	.	.	ENSG00000174942	ENST00000312253	T	0.00123	8.7	5.72	0.771	0.18504	5.72	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.53313	0.723	T	0.46938	-0.9155	9	0.66056	D	0.02	-5.8915	9.1469	0.36939	0.0:0.403:0.0:0.597	.	193	Q8NH85	OR5R1_HUMAN	P	193	ENSP00000308595:H193P	ENSP00000308595:H193P	H	-	2	0	0	OR5R1	55941707	55941707	0.000000	0.05858	0.021000	0.16686	0.985000	0.73830	-1.065000	0.03458	0.096000	0.17463	0.472000	0.43445	CAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_001004744			79	78		270	262	1		1			0	0	92	0		1	0	0	0	0	0	0	79	270
OR5M9	390162	broad.mit.edu	37	11	56230077	56230077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					TTTTGCCCTGCTCTACGGATT	0.463																																						ENST00000279791.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(799-801)gaG>gaA		olfactory receptor, family 5, subfamily M, member 9							86.0	75.0	78.0					11																	56230077		2201	4296	6497	SO:0001819	synonymous_variant	390162	2	121408	33				g.chr11:56230077C>T	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.801G>A	chr11.hg19:g.56230077C>T		0						p.E267E	NM_001004743.1	NP_001004743.1	1	2	3	2.000915	Q8NGP3	OR5M9_HUMAN		1	800	-	Esophageal squamous(21;0.00448)		Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	1	1	hg19	c.801G>A	CCDS31531.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_001004743			60	60		287	281	1		1			0	0	77	0		1	0	0	0	0	0	0	60	287
OR5M3	219482	broad.mit.edu	37	11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AGCTGTCAGATGGGACCCACA	0.473																																						ENST00000312240.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(724-726)cAt>cGt		olfactory receptor, family 5, subfamily M, member 3							59.0	57.0	58.0					11																	56237249		2201	4295	6496	SO:0001583	missense	219482	0	0					g.chr11:56237249T>C	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.725A>G	chr11.hg19:g.56237249T>C	ENSP00000312208:p.His242Arg	0						p.H242R	NM_001004742.2	NP_001004742.2	1	2	3	2.000915	Q8NGP4	OR5M3_HUMAN		1	765	-	Esophageal squamous(21;0.00448)		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	1	1	hg19	c.725A>G	CCDS31532.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024257	0.75390	.	.	ENSG00000174937	ENST00000312240	T	0.00311	8.15	5.08	5.08	0.68730	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000482	T	0.01222	0.0040	H	0.98238	4.18	0.42064	D	0.991172	D	0.76494	0.999	D	0.78314	0.991	T	0.17992	-1.0351	10	0.72032	D	0.01	-15.4185	12.8019	0.57591	0.0:0.0:0.0:1.0	.	242	Q8NGP4	OR5M3_HUMAN	R	242	ENSP00000312208:H242R	ENSP00000312208:H242R	H	-	2	0	0	OR5M3	55993825	55993825	1.000000	0.71417	0.900000	0.35374	0.964000	0.63967	5.910000	0.69931	1.897000	0.54924	0.448000	0.29417	CAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	1	0	1		2	2	2	0		0	0	58		58	61	1	2.060000	-20.000000	1	0.170000	NM_001004742			63	58		278	262	1		1			0	0	58	0		1	0	0	0	0	0	0	63	278
OR5M3	219482	broad.mit.edu	37	11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AAGCAGAGGATTCCCAATTGC	0.398																																						ENST00000312240.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(376-378)aAt>aCt		olfactory receptor, family 5, subfamily M, member 3							95.0	89.0	91.0					11																	56237597		2201	4269	6470	SO:0001583	missense	219482	0	0					g.chr11:56237597T>G	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.377A>C	chr11.hg19:g.56237597T>G	ENSP00000312208:p.Asn126Thr	0						p.N126T	NM_001004742.2	NP_001004742.2	1	2	3	2.000915	Q8NGP4	OR5M3_HUMAN		1	417	-	Esophageal squamous(21;0.00448)		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	1	1	hg19	c.377A>C	CCDS31532.1	1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229209	0.09916	.	.	ENSG00000174937	ENST00000312240	T	0.00382	7.61	5.13	4.01	0.46588	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.697951	0.12939	N	0.426758	T	0.00524	0.0017	M	0.87328	2.875	0.09310	N	1	B	0.30281	0.275	B	0.33121	0.158	T	0.30736	-0.9968	10	0.66056	D	0.02	-0.3966	9.4625	0.38794	0.0:0.0846:0.0:0.9154	.	126	Q8NGP4	OR5M3_HUMAN	T	126	ENSP00000312208:N126T	ENSP00000312208:N126T	N	-	2	0	0	OR5M3	55994173	55994173	0.000000	0.05858	0.032000	0.17829	0.003000	0.03518	0.620000	0.24403	0.809000	0.34255	0.391000	0.25812	AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-20.000000	1	0.170000	NM_001004742			101	101		526	518	1		1			0	0	159	0		1	0	0	0	0	0	0	101	526
OR5M11	219487	broad.mit.edu	37	11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493																																						ENST00000528616.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(646-648)Tcc>Ccc		olfactory receptor, family 5, subfamily M, member 11							73.0	74.0	74.0					11																	56310088		2065	4230	6295	SO:0001583	missense	219487	0	0					g.chr11:56310088A>G	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.646T>C	chr11.hg19:g.56310088A>G	ENSP00000432417:p.Ser216Pro	0						p.S216P	NM_001005245.1	NP_001005245.1	1	2	3	2.000915	Q96RB7	OR5MB_HUMAN		1	669	-			B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	1	1	hg19	c.646T>C	CCDS53629.1	1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877410	0.51801	.	.	ENSG00000255223	ENST00000528616	T	0.46819	0.86	4.85	3.69	0.42338	4.85	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75072	0.3800	H	0.95402	3.665	0.32543	N	0.533459	D	0.89917	1.0	D	0.81914	0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	9.9357	0.41550	0.8476:0.0:0.0:0.1524	.	216	Q96RB7	OR5MB_HUMAN	P	216	ENSP00000432417:S216P	ENSP00000432417:S216P	S	-	1	0	0	OR5M11	56066664	56066664	0.974000	0.33945	1.000000	0.80357	0.781000	0.44180	3.158000	0.50723	0.868000	0.35678	0.514000	0.50259	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_001005245			53	52		226	221	1		1			0	0	64	0		1	0	0	0	0	0	0	53	226
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	rs200285217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502																																						ENST00000528616.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999713	0.990000	1.000000																										0				18						c.(544-546)cCg>cTg		olfactory receptor, family 5, subfamily M, member 11		A	LEU/PRO	0,4126		0,0,2063	46.0	48.0	48.0		545	2.0	0.5	11		48	4,8436		0,4,4216	yes	missense	OR5M11	NM_001005245.1	98	0,4,6279	AA,AG,GG		0.0474,0.0,0.0318	probably-damaging	182/306	56310189	4,12562	2063	4220	6283	SO:0001583	missense	219487	32	121030	48				g.chr11:56310189G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.545C>T	chr11.hg19:g.56310189G>A	ENSP00000432417:p.Pro182Leu	0						p.P182L	NM_001005245.1	NP_001005245.1	1	2	3	2.000915	Q96RB7	OR5MB_HUMAN		1	568	-			B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	1	1	hg19	c.545C>T	CCDS53629.1	1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	0	OR5M11	56066765	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	1		2	2	2	0		0	0	26		26	23	1	2.060000	-3.290819	1	0.170000	NM_001005245			25	25		147	143	1		1			0	0	26	0		9.999999e-01	0	0	0	0	0	0	25	147
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527																																						ENST00000528616.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				18						c.(445-447)gtC>gtT		olfactory receptor, family 5, subfamily M, member 11							43.0	46.0	45.0					11																	56310287		2114	4256	6370	SO:0001819	synonymous_variant	219487	0	0					g.chr11:56310287G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.447C>T	chr11.hg19:g.56310287G>A		0						p.V149V	NM_001005245.1	NP_001005245.1	1	2	3	2.000915	Q96RB7	OR5MB_HUMAN		1	470	-			B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	1	1	hg19	c.447C>T	CCDS53629.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_001005245			25	24		113	109	1		1			0	0	36	0		9.999999e-01	0	0	0	0	0	0	25	113
OR5M10	390167	broad.mit.edu	37	11	56344805	56344805	+	Silent	SNP	A	A	G	rs370177204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458																																						ENST00000526812.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(391-393)caT>caC		olfactory receptor, family 5, subfamily M, member 10		A		1,4005		0,1,2002	180.0	167.0	171.0		393	-4.8	0.0	11		171	0,8374		0,0,4187	no	coding-synonymous	OR5M10	NM_001004741.1		0,1,6189	GG,GA,AA		0.0,0.025,0.0081		131/316	56344805	1,12379	2003	4187	6190	SO:0001819	synonymous_variant	390167	0	0					g.chr11:56344805A>G	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.393T>C	chr11.hg19:g.56344805A>G		0						p.H131H	NM_001004741.1	NP_001004741.1	1	2	3	2.000915	Q6IEU7	OR5MA_HUMAN		1	458	-			B9EIL9	Silent	SNP	ENST00000526812.2	1	1	hg19	c.393T>C	CCDS53630.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-20.000000	1	0.170000	NM_001004741			92	92		340	331	1		1			0	0	115	0		1	0	0	0	0	0	0	92	340
OR9G1	390174	broad.mit.edu	37	11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, 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)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCACAGACCCAGGAATGCA	0.502																																						ENST00000312153.1	1.000000	0.690000	1	8.300000e-01	0.980000	0.934396	0.980000	1.000000																										0				31						c.(58-60)Cca>Tca		olfactory receptor, family 9, subfamily G, member 1							137.0	119.0	125.0					11																	56467921		2201	4296	6497	SO:0001583	missense	390174	0	0					g.chr11:56467921C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.58C>T	chr11.hg19:g.56467921C>T	ENSP00000309012:p.Pro20Ser	0						p.P20S	NM_001005213.1	NP_001005213.1	1	2	3	2.000915	Q8NH87	OR9G1_HUMAN		1	58	+			Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	1	1	hg19	c.58C>T	CCDS31536.1	1	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143221	0.09083	.	.	ENSG00000174914	ENST00000312153	T	0.00428	7.44	4.52	0.481	0.16809	4.52	0.481	0.16809	.	0.000000	0.52532	D	0.000071	T	0.00328	0.0010	M	0.64170	1.965	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46762	-0.9168	10	0.49607	T	0.09	-25.9779	4.4132	0.11443	0.1288:0.597:0.1252:0.149	.	20	Q8NH87	OR9G1_HUMAN	S	20	ENSP00000309012:P20S	ENSP00000309012:P20S	P	+	1	0	0	OR9G1	56224497	56224497	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.416000	0.07097	0.229000	0.21039	-0.252000	0.11476	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	0	0	1		2	2	2	0		0	0	81		81	83	1	2.060000	-3.017764	1	0.170000	NM_001005213			34	28		379	365	0		1			0	0	81	0		1	0	0	0	0	0	0	34	379
OR5AK2	390181	broad.mit.edu	37	11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATACATCATGGGCTCAATAAA	0.438																																						ENST00000326855.2	1.000000	0.420000	7.100000e-01	4.900000e-01	0.580000	0.616629	0.580000	0.580000																										0				21						c.(454-456)Ggc>Agc		olfactory receptor, family 5, subfamily AK, member 2							227.0	199.0	208.0					11																	56756842		2201	4296	6497	SO:0001583	missense	390181	0	0					g.chr11:56756842G>A	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.454G>A	chr11.hg19:g.56756842G>A	ENSP00000322784:p.Gly152Ser	0						p.G152S	NM_001005323.1	NP_001005323.1	1	2	3	2.000915	Q8NH90	O5AK2_HUMAN		1	496	+			B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	1	1	hg19	c.454G>A	CCDS31538.1	0	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921760	0.33908	.	.	ENSG00000181273	ENST00000326855	T	0.32988	1.43	3.85	3.85	0.44370	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.173615	0.27442	N	0.019346	T	0.40767	0.1130	L	0.47078	1.49	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.20306	-1.0279	10	0.46703	T	0.11	-16.038	14.912	0.70764	0.0:0.0:1.0:0.0	.	152	Q8NH90	O5AK2_HUMAN	S	152	ENSP00000322784:G152S	ENSP00000322784:G152S	G	+	1	0	0	OR5AK2	56513418	56513418	0.982000	0.34865	0.051000	0.19133	0.085000	0.17905	3.704000	0.54815	2.142000	0.66516	0.194000	0.17425	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-2.965795	1	0.170000	NM_001005323			40	39		776	766	0		1			0	0	139	0		1	0	0	0	0	0	0	40	776
OR5AK2	390181	broad.mit.edu	37	11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398																																						ENST00000326855.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(562-564)Tca>Gca		olfactory receptor, family 5, subfamily AK, member 2							343.0	305.0	318.0					11																	56756950		2201	4296	6497	SO:0001583	missense	390181	0	0					g.chr11:56756950T>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.562T>G	chr11.hg19:g.56756950T>G	ENSP00000322784:p.Ser188Ala	0						p.S188A	NM_001005323.1	NP_001005323.1	1	2	3	2.000915	Q8NH90	O5AK2_HUMAN		1	604	+			B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	1	1	hg19	c.562T>G	CCDS31538.1	1	.	.	.	.	.	.	.	.	.	.	T	4.418	0.077324	0.08485	.	.	ENSG00000181273	ENST00000326855	T	0.00235	8.48	3.85	3.85	0.44370	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	N	0.003332	T	0.00178	0.0005	L	0.28344	0.845	0.18873	N	0.999986	B	0.27316	0.175	B	0.35727	0.209	T	0.39663	-0.9603	10	0.40728	T	0.16	-11.9562	11.9306	0.52845	0.0:0.0:0.0:1.0	.	188	Q8NH90	O5AK2_HUMAN	A	188	ENSP00000322784:S188A	ENSP00000322784:S188A	S	+	1	0	0	OR5AK2	56513526	56513526	0.007000	0.16637	0.415000	0.26534	0.039000	0.13416	0.623000	0.24447	1.739000	0.51704	0.163000	0.16589	TCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	1	0	1		2	2	2	0		0	0	236		236	234	1	2.060000	-20.000000	1	0.170000	NM_001005323			253	247		1062	1046	1		1			0	0	236	0		1	0	0	0	0	0	0	253	1062
LRRC55	219527	broad.mit.edu	37	11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A	rs368858600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	151					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612																																						ENST00000497933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(541-543)gGg>gAg		leucine rich repeat containing 55		G	GLU/GLY	0,4402		0,0,2201	43.0	42.0	42.0		542	5.0	0.8	11		42	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	98	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	181/342	56949909	1,12993	2201	4296	6497	SO:0001583	missense	219527	2	121412	37				g.chr11:56949909G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.542G>A	chr11.hg19:g.56949909G>A	ENSP00000419542:p.Gly181Glu	0						p.G181E	NM_001005210.2	NP_001005210.1	1	2	3	2.000915	Q6ZSA7	LRC55_HUMAN		1	689	+			A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	1	1	hg19	c.542G>A	CCDS31539.1	1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350526	0.24512	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.56776	0.44	5.91	4.99	0.66335	5.91	4.99	0.66335	.	0.339739	0.25786	N	0.028302	T	0.37376	0.1001	N	0.21373	0.66	0.21290	N	0.999738	B	0.06786	0.001	B	0.18263	0.021	T	0.21965	-1.0230	10	0.34782	T	0.22	.	9.813	0.40835	0.0767:0.1557:0.7677:0.0	.	151	Q6ZSA7	LRC55_HUMAN	E	181	ENSP00000419542:G181E	ENSP00000419542:G181E	G	+	2	0	0	LRRC55	56706485	56706485	0.353000	0.24904	0.788000	0.31933	0.979000	0.70002	2.139000	0.42149	1.467000	0.48044	0.655000	0.94253	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-3.910566	1	0.170000	NM_001005210			59	58		216	212	1		1	0		0	0	51	0		1	1.214624e-01	0	0	0	3	0	59	216
LRRC55	219527	broad.mit.edu	37	11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	197	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652																																						ENST00000497933.1	1.000000	0.470000	8.200000e-01	5.600000e-01	0.670000	0.699257	0.670000	0.670000																										0				25						c.(679-681)Ggc>Agc		leucine rich repeat containing 55							72.0	72.0	72.0					11																	56950046		2201	4296	6497	SO:0001583	missense	219527	0	0					g.chr11:56950046G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.679G>A	chr11.hg19:g.56950046G>A	ENSP00000419542:p.Gly227Ser	0						p.G227S	NM_001005210.2	NP_001005210.1	1	2	3	2.000915	Q6ZSA7	LRC55_HUMAN		1	826	+			A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	1	1	hg19	c.679G>A	CCDS31539.1	0	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998161	0.54147	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.03220	0.0094	N	0.10782	0.045	0.32159	N	0.583233	B	0.25441	0.126	B	0.40864	0.342	T	0.47275	-0.9130	10	0.14252	T	0.57	.	14.3899	0.66970	0.0:0.1479:0.8521:0.0	.	197	Q6ZSA7	LRC55_HUMAN	S	227	ENSP00000419542:G227S	ENSP00000419542:G227S	G	+	1	0	0	LRRC55	56706622	56706622	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.068000	0.50018	2.724000	0.93272	0.561000	0.74099	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_001005210			34	34		570	565	0		1			0	0	104	0		1	0	0	0	0	0	0	34	570
TNKS1BP1	85456	broad.mit.edu	37	11	57068363	57068363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1708	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			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)				CCTACCCTGAGGATTTCTCTG	0.552																																						ENST00000532437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(5122-5124)tcC>tcT		tankyrase 1 binding protein 1, 182kDa							162.0	142.0	149.0					11																	57068363		2201	4296	6497	SO:0001819	synonymous_variant	85456	0	0					g.chr11:57068363G>A	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.5124C>T	chr11.hg19:g.57068363G>A		0					TNKS1BP1_ENST00000358252.3_Silent_p.S1708S	p.S1708S			1	2	3	2.000915	Q9C0C2	TB182_HUMAN		9	5435	-		all_epithelial(135;0.21)	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	1	1	hg19	c.5124C>T	CCDS7951.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.021652	1	0.170000	NM_033396			137	136		614	604	1		1	1		0	0	131	0		1	1	0	134	0	440	0	137	614
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				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)			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)				ATTAACATCAGAAGTCCAGTC	0.582																																						ENST00000532437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3685-3687)tCt>tTt		tankyrase 1 binding protein 1, 182kDa							158.0	171.0	167.0					11																	57076499		2201	4296	6497	SO:0001583	missense	85456	0	0					g.chr11:57076499G>A	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.3686C>T	chr11.hg19:g.57076499G>A	ENSP00000437271:p.Ser1229Phe	0					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F|TNKS1BP1_ENST00000530920.1_5'Flank	p.S1229F			1	2	3	2.000915	Q9C0C2	TB182_HUMAN		5	3997	-		all_epithelial(135;0.21)	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	1	1	hg19	c.3686C>T	CCDS7951.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185709	0.38609	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	0.667	0.17907	5.05	0.667	0.17907	.	0.907000	0.09290	N	0.822392	T	0.39911	0.1096	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.22173	-1.0224	10	0.72032	D	0.01	-3.2115	4.4738	0.11726	0.0804:0.2886:0.482:0.1489	.	1229	Q9C0C2	TB182_HUMAN	F	1229	ENSP00000350990:S1229F;ENSP00000437271:S1229F	ENSP00000350990:S1229F	S	-	2	0	0	TNKS1BP1	56833075	56833075	0.043000	0.20138	0.017000	0.16124	0.501000	0.33797	0.663000	0.25053	0.152000	0.19188	0.462000	0.41574	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1		2	2	2	0		0	0	306		306	304	1	2.060000	-20.000000	1	0.170000	NM_033396			356	342		1400	1370	1		1	1		0	0	306	0		1	1	0	98	0	283	0	356	1400
TNKS1BP1	85456	broad.mit.edu	37	11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1094	Acidic.|Gly-rich.				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)			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)				CTGGGGGCCAACACTGAGGCT	0.612																																						ENST00000532437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3280-3282)gTt>gCt		tankyrase 1 binding protein 1, 182kDa							80.0	67.0	71.0					11																	57076904		2201	4296	6497	SO:0001583	missense	85456	0	0					g.chr11:57076904A>G	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.3281T>C	chr11.hg19:g.57076904A>G	ENSP00000437271:p.Val1094Ala	0					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A|TNKS1BP1_ENST00000530920.1_5'Flank	p.V1094A			1	2	3	2.000915	Q9C0C2	TB182_HUMAN		5	3592	-		all_epithelial(135;0.21)	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	1	1	hg19	c.3281T>C	CCDS7951.1	1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065205	0.20067	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	4.85	2.33	0.28932	4.85	2.33	0.28932	.	0.498700	0.16510	N	0.211295	T	0.22936	0.0554	N	0.21142	0.635	0.09310	N	1	D	0.56287	0.975	P	0.53062	0.717	T	0.08310	-1.0728	10	0.10111	T	0.7	-3.9478	4.1775	0.10358	0.5689:0.1727:0.0:0.2584	.	1094	Q9C0C2	TB182_HUMAN	A	1094	ENSP00000350990:V1094A;ENSP00000437271:V1094A	ENSP00000350990:V1094A	V	-	2	0	0	TNKS1BP1	56833480	56833480	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.067000	0.11579	0.691000	0.31592	0.379000	0.24179	GTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_033396			87	86		306	300	1		1	1		0	0	85	0		1	1	0	87	0	307	0	87	306
TNKS1BP1	85456	broad.mit.edu	37	11	57077332	57077332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000358252.3_Silent_p.E951E|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	951	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)			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)				TCTTCCCAAACTCCTGTTCCT	0.592																																						ENST00000532437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2851-2853)gaG>gaA		tankyrase 1 binding protein 1, 182kDa							96.0	108.0	104.0					11																	57077332		2201	4296	6497	SO:0001819	synonymous_variant	85456	0	0					g.chr11:57077332C>T	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.2853G>A	chr11.hg19:g.57077332C>T		0					TNKS1BP1_ENST00000358252.3_Silent_p.E951E|TNKS1BP1_ENST00000530920.1_5'UTR	p.E951E			1	2	3	2.000915	Q9C0C2	TB182_HUMAN		5	3164	-		all_epithelial(135;0.21)	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	1	1	hg19	c.2853G>A	CCDS7951.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1		2	2	2	0		0	0	200		200	172	1	2.060000	-20.000000	1	0.170000	NM_033396			163	151		747	677	1		1	1		0	0	200	0		1	1	0	116	0	358	0	163	747
SSRP1	6749	broad.mit.edu	37	11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	412					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)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				23						c.(1234-1236)gGg>gAg		structure specific recognition protein 1							154.0	123.0	134.0					11																	57098390		2201	4296	6497	SO:0001583	missense	6749	0	0					g.chr11:57098390C>T	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.1235G>A	chr11.hg19:g.57098390C>T	ENSP00000278412:p.Gly412Glu	0					RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	p.G412E	NM_003146.2	NP_003137.1	1	2	3	2.000915	Q08945	SSRP1_HUMAN		10	1501	-			Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	1	1	hg19	c.1235G>A	CCDS7952.1	1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317282	0.60524	.	.	ENSG00000149136	ENST00000278412	T	0.41065	1.01	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.25890	0.77	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.05022	-1.0911	10	0.07482	T	0.82	-24.3985	15.5356	0.76001	0.0:1.0:0.0:0.0	.	412	Q08945	SSRP1_HUMAN	E	412	ENSP00000278412:G412E	ENSP00000278412:G412E	G	-	2	0	0	SSRP1	56854966	56854966	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.029000	0.76477	2.423000	0.82170	0.555000	0.69702	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.079496	1	0.170000	NM_003146			38	38		229	223	1		1	1		0	0	52	0		1	1	0	116	0	370	0	38	229
SSRP1	6749	broad.mit.edu	37	11	57102123	57102123	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1						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)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e3-1		structure specific recognition protein 1							128.0	120.0	122.0					11																	57102123		2201	4296	6497	SO:0001630	splice_region_variant	6749	0	0					g.chr11:57102123C>T	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.55-1G>A	chr11.hg19:g.57102123C>T		0							NM_003146.2	NP_003137.1	1	2	3	2.000915	Q08945	SSRP1_HUMAN		3	321	-			Q5BJG8	Splice_Site	SNP	ENST00000278412.2	1	1	hg19		CCDS7952.1	1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909000	0.72868	.	.	ENSG00000149136	ENST00000278412	.	.	.	6.0	6.0	0.97389	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.09	0.97815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SSRP1	56858699	56858699	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.216000	0.77974	2.848000	0.98002	0.655000	0.94253	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_003146	Intron		88	88		431	420	1		1	1		0	0	105	0		1	7.810864e-02	0	2	0	1	0	88	431
PRG2	5553	broad.mit.edu	37	11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T	rs375145993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	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)	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	ACACTGGATTCGATAATTAAT	0.488													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20035	0.0		0.001	False		,,,				2504	0.0					ENST00000311862.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(430-432)cGa>cAa		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	Sargramostim(DB00020)	C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	149.0	140.0	143.0		431	-10.6	0.0	11		143	0,8592		0,0,4296	no	missense	PRG2	NM_002728.4	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		144/223	57156117	1,12993	2201	4296	6497	SO:0001583	missense	5553	4	121412	43				g.chr11:57156117C>T	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.431G>A	chr11.hg19:g.57156117C>T	ENSP00000312134:p.Arg144Gln	0					PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	1	2	3	2.000915	P13727	PRG2_HUMAN		4	504	-			A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	1	1	hg19	c.431G>A	CCDS7955.1	1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033745	0.19590	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18502	2.21;2.21;2.21	5.32	-10.6	0.00265	5.32	-10.6	0.00265	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450750	0.04539	N	0.387862	T	0.06508	0.0167	N	0.05177	-0.1	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.15870	0.001;0.014	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.5745	0.39450	0.216:0.5966:0.0:0.1874	.	133;144	A6XMW0;P13727	.;PRG2_HUMAN	Q	144;133;144	ENSP00000312134:R144Q;ENSP00000433231:R133Q;ENSP00000433016:R144Q	ENSP00000312134:R144Q	R	-	2	0	0	PRG2	56912693	56912693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.161000	0.00283	-1.470000	0.01888	-2.087000	0.00375	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	1	0	1		2	2	2	0		0	0	191		191	188	1	2.060000	-20.000000	1	0.170000	NM_002728			168	164		722	708	1		1	0		0	0	191	0		1	4.641692e-01	0	0	0	8	0	168	722
SLC43A3	29015	broad.mit.edu	37	11	57193571	57193571	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000533524.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	25					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557																																						ENST00000395123.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(73-75)ggC>ggT		solute carrier family 43, member 3							94.0	95.0	95.0					11																	57193571		2201	4296	6497	SO:0001819	synonymous_variant	29015	1	121410	31				g.chr11:57193571G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.75C>T	chr11.hg19:g.57193571G>A		0					SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR	p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	1	2	3	2.000915	Q8NBI5	S43A3_HUMAN		3	379	-			B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	1	1	hg19	c.75C>T	CCDS7956.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-20.000000	1	0.170000	NM_017611			131	130		529	517	1		1	1		0	0	108	0		1	1	0	4	0	96	0	131	529
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000278407.4	+	5	964	c.737G>T	c.(736-738)aGc>aTc	p.S246I	SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	246					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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547																																						ENST00000278407.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(736-738)aGc>aTc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							187.0	172.0	177.0					11																	57373534		2201	4296	6497	SO:0001583	missense	710	0	0					g.chr11:57373534G>T	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.737G>T	chr11.hg19:g.57373534G>T	ENSP00000278407:p.Ser246Ile	0					SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I	p.S246I	NM_000062.2	NP_000053.2	1	2	3	2.000915	P05155	IC1_HUMAN		5	964	+			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	1	1	hg19	c.737G>T	CCDS7962.1	1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806050	0.50421	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.23	2.22	0.28083	5.23	2.22	0.28083	Serpin domain (3);	0.426738	0.28036	N	0.016851	D	0.90549	0.7038	M	0.86864	2.845	0.37094	D	0.899581	D;D;D;D	0.76494	0.99;0.999;0.99;0.99	P;D;P;P	0.68192	0.904;0.956;0.904;0.904	D	0.89377	0.3679	10	0.87932	D	0	.	4.7356	0.12986	0.1933:0.1795:0.6271:0.0	.	251;280;246;246	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	246;246;251;194;280	ENSP00000278407:S246I;ENSP00000341861:S246I;ENSP00000367574:S251I;ENSP00000367575:S194I;ENSP00000384420:S280I	ENSP00000278407:S246I	S	+	2	0	0	SERPING1	57130110	57130110	0.240000	0.23847	1.000000	0.80357	0.333000	0.28666	0.306000	0.19279	0.552000	0.29026	0.561000	0.74099	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-20.000000	1	0.170000	NM_000062			126	125		602	592	1		1	1		0	0	158	0		1	1	0	877	0	5576	0	126	602
ZDHHC5	25921	broad.mit.edu	37	11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	143					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)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458																																						ENST00000287169.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(427-429)cGc>cAc		zinc finger, DHHC-type containing 5							157.0	151.0	153.0					11																	57457546		2201	4296	6497	SO:0001583	missense	25921	0	0					g.chr11:57457546G>A	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.428G>A	chr11.hg19:g.57457546G>A	ENSP00000287169:p.Arg143His	0					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	p.R143H	NM_015457.2	NP_056272.2	1	2	3	2.000915	Q9C0B5	ZDHC5_HUMAN		5	1790	+			Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	1	1	hg19	c.428G>A	CCDS7965.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.687494	0.96784	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.23	5.23	0.72850	5.23	5.23	0.72850	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.056441	0.64402	N	0.000001	T	0.47395	0.1443	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.42515	-0.9447	10	0.87932	D	0	-12.894	18.5851	0.91187	0.0:0.0:1.0:0.0	.	143	Q9C0B5	ZDHC5_HUMAN	H	90;143;41;41	ENSP00000432202:R90H;ENSP00000287169:R143H;ENSP00000431209:R41H;ENSP00000435593:R41H	ENSP00000287169:R143H	R	+	2	0	0	ZDHHC5	57214122	57214122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.714000	0.92807	0.563000	0.77884	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.323532	1	0.170000	NM_015457			140	138		606	590	1		1	1		0	0	119	0		1	1	0	68	0	226	0	140	606
TMX2	51075	broad.mit.edu	37	11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	TMX2_ENST00000378312.4_Missense_Mutation_p.R114W|C11orf31_ENST00000388857.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	152	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473																																						ENST00000278422.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(454-456)Cgg>Tgg		thioredoxin-related transmembrane protein 2							157.0	145.0	149.0					11																	57506148		2201	4296	6497	SO:0001583	missense	51075	0	0					g.chr11:57506148C>T	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.454C>T	chr11.hg19:g.57506148C>T	ENSP00000278422:p.Arg152Trp	0					C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	p.R152W	NM_015959.3	NP_057043.1	1	2	3	2.000915	Q9Y320	TMX2_HUMAN		5	466	+			B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	1	1	hg19	c.454C>T	CCDS7967.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275613	0.40294	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03441	3.93;3.93	5.95	5.03	0.67393	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.209158	0.39407	U	0.001366	T	0.11965	0.0291	M	0.67625	2.065	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	P;P	0.58928	0.788;0.848	T	0.00453	-1.1730	10	0.87932	D	0	-11.7709	9.7442	0.40437	0.1413:0.7884:0.0:0.0704	.	114;152	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	114;152	ENSP00000367562:R114W;ENSP00000278422:R152W	ENSP00000278422:R152W	R	+	1	2	2	TMX2	57262724	57262724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.331000	0.33793	1.495000	0.48549	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_015959			86	86		444	439	1		1	1		0	0	135	0		1	1	0	144	0	357	0	86	444
CTNND1	1500	broad.mit.edu	37	11	57564342	57564342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000399050.4	+	6	1370	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000524630.1_Silent_p.E278E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532649.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	278					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557																																						ENST00000399050.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(832-834)gaG>gaA		catenin (cadherin-associated protein), delta 1							125.0	134.0	131.0					11																	57564342		2132	4249	6381	SO:0001819	synonymous_variant	1500	0	0					g.chr11:57564342G>A	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.834G>A	chr11.hg19:g.57564342G>A		0					CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000524630.1_Silent_p.E278E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000532649.1_Silent_p.E224E	p.E278E	NM_001085458.1	NP_001078927.1	1	2	3	2.000915	O60716	CTND1_HUMAN		6	1370	+		all_epithelial(135;0.155)	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	1	1	hg19	c.834G>A	CCDS44604.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	1	0	1		2	2	2	0		0	0	171		171	169	1	2.060000	-20.000000	1	0.170000	NM_001331			162	160		726	709	0		1	1		0	0	171	0		1	1	0	108	0	175	0	162	726
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A	rs528605468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24556	0.0		0.0	False		,,,				2504	0.001					ENST00000302622.3	1.000000	0.340000	6.200000e-01	4.100000e-01	0.500000	0.534499	0.500000	0.490000																										0				21						c.(574-576)tcG>tcA		olfactory receptor, family 6, subfamily Q, member 1							253.0	223.0	233.0					11																	57799000		2201	4296	6497	SO:0001819	synonymous_variant	219952	2	121412	38				g.chr11:57799000G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.576G>A	chr11.hg19:g.57799000G>A		0					OR9Q1_ENST00000335397.3_Intron	p.S192S	NM_001005186.2	NP_001005186.2	1	2	3	2.000915	Q8NGQ2	OR6Q1_HUMAN		1	599	+		Breast(21;0.0707)|all_epithelial(135;0.142)	B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	1	1	hg19	c.576G>A	CCDS31541.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.979733	1	0.170000	NM_001005186			30	31		694	681	0		1			0	0	120	0		1	0	0	0	0	0	0	30	694
OR1S1	219959	broad.mit.edu	37	11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				GATCGGCAGAAATATGCATCA	0.403																																						ENST00000309433.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(37-39)Aat>Gat		olfactory receptor, family 1, subfamily S, member 1							158.0	143.0	148.0					11																	57982253		2201	4296	6497	SO:0001583	missense	219959	0	0					g.chr11:57982253A>G	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.37A>G	chr11.hg19:g.57982253A>G	ENSP00000311688:p.Asn13Asp	0						p.N13D	NM_001004458.1	NP_001004458.1	1	2	3	2.000915	Q8NH92	OR1S1_HUMAN		1	37	+		Breast(21;0.0589)	Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	1	1	hg19	c.37A>G	CCDS31546.1	1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078147	0.01903	.	.	ENSG00000172774	ENST00000309433	T	0.57752	0.38	3.4	0.804	0.18697	3.4	0.804	0.18697	.	0.345842	0.20757	N	0.086256	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08046	-1.0741	10	0.30854	T	0.27	.	3.6178	0.08083	0.691:0.0:0.1169:0.1921	.	13	Q8NH92	OR1S1_HUMAN	D	13	ENSP00000311688:N13D	ENSP00000311688:N13D	N	+	1	0	0	OR1S1	57738829	57738829	0.015000	0.18098	0.978000	0.43139	0.170000	0.22686	1.714000	0.37961	0.361000	0.24292	0.392000	0.25879	AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	1	0	0		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_001004458			88	85		406	397	1		1			0	0	99	0		1	0	0	0	0	0	0	88	406
OR1S1	219959	broad.mit.edu	37	11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, 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)			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)				AGGAAACCAAACCACCATCAC	0.413																																						ENST00000309433.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(58-60)Acc>Gcc		olfactory receptor, family 1, subfamily S, member 1							193.0	176.0	182.0					11																	57982274		2201	4296	6497	SO:0001583	missense	219959	0	0					g.chr11:57982274A>G	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.58A>G	chr11.hg19:g.57982274A>G	ENSP00000311688:p.Thr20Ala	0						p.T20A	NM_001004458.1	NP_001004458.1	1	2	3	2.000915	Q8NH92	OR1S1_HUMAN		1	58	+		Breast(21;0.0589)	Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	1	1	hg19	c.58A>G	CCDS31546.1	1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347191	0.24426	.	.	ENSG00000172774	ENST00000309433	T	0.04406	3.63	3.45	3.45	0.39498	3.45	3.45	0.39498	.	0.000000	0.50627	D	0.000111	T	0.11707	0.0285	M	0.88704	2.975	0.09310	N	1	D	0.54207	0.965	P	0.44518	0.452	T	0.16928	-1.0386	10	0.72032	D	0.01	.	9.8205	0.40880	1.0:0.0:0.0:0.0	.	20	Q8NH92	OR1S1_HUMAN	A	20	ENSP00000311688:T20A	ENSP00000311688:T20A	T	+	1	0	0	OR1S1	57738850	57738850	0.016000	0.18221	0.424000	0.26647	0.014000	0.08584	2.735000	0.47377	1.443000	0.47586	0.392000	0.25879	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	0	0	0		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000	NM_001004458			97	97		470	460	1		1			0	0	111	0		1	0	0	0	0	0	0	97	470
OR10Q1	219960	broad.mit.edu	37	11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y127F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607																																						ENST00000316770.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.Y127F(1)	breast(1)	35						c.(379-381)tAt>tGt		olfactory receptor, family 10, subfamily Q, member 1							88.0	74.0	79.0					11																	57995968		2201	4295	6496	SO:0001583	missense	219960	0	0					g.chr11:57995968T>C	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.380A>G	chr11.hg19:g.57995968T>C	ENSP00000314324:p.Tyr127Cys	0						p.Y127C	NM_001004471.2	NP_001004471.1	1	2	3	2.000915	Q8NGQ4	O10Q1_HUMAN		1	422	-		Breast(21;0.0589)	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	1	1	hg19	c.380A>G	CCDS31547.1	1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432837	0.25813	.	.	ENSG00000180475	ENST00000316770	T	0.56444	0.46	4.45	3.3	0.37823	4.45	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.196371	0.25172	N	0.032585	T	0.67468	0.2896	M	0.81239	2.535	0.29356	N	0.865038	D	0.89917	1.0	D	0.68621	0.959	T	0.63251	-0.6679	10	0.66056	D	0.02	.	5.8888	0.18896	0.1485:0.084:0.0:0.7675	.	127	Q8NGQ4	O10Q1_HUMAN	C	127	ENSP00000314324:Y127C	ENSP00000314324:Y127C	Y	-	2	0	0	OR10Q1	57752544	57752544	0.999000	0.42202	0.010000	0.14722	0.057000	0.15508	3.287000	0.51732	0.720000	0.32209	0.455000	0.32223	TAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001004471			44	43		177	176	1		1			0	0	69	0		1	0	0	0	0	0	0	44	177
OR5B3	441608	broad.mit.edu	37	11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T	rs546163469	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120L(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)				TGCTGCATAGCGGTCATAGGC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22807	0.0		0.0	False		,,,				2504	0.0					ENST00000309403.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R120L(1)	haematopoietic_and_lymphoid_tissue(1)	34						c.(358-360)cGc>cAc		olfactory receptor, family 5, subfamily B, member 3							131.0	117.0	122.0					11																	58170524		2201	4295	6496	SO:0001583	missense	441608	4	121412	40				g.chr11:58170524C>T	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.359G>A	chr11.hg19:g.58170524C>T	ENSP00000308270:p.Arg120His	0						p.R120H	NM_001005469.1	NP_001005469.1	1	2	3	2.000915	Q8NH48	OR5B3_HUMAN		1	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	1	1	hg19	c.359G>A	CCDS31549.1	1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547375	0.45383	.	.	ENSG00000172769	ENST00000309403	T	0.77489	-1.1	3.96	3.04	0.35103	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.77485	0.4137	M	0.85630	2.765	0.35002	D	0.756051	P	0.50369	0.934	B	0.40602	0.334	D	0.84664	0.0708	10	0.66056	D	0.02	-27.9791	10.5958	0.45336	0.0:0.9022:0.0:0.0978	.	120	Q8NH48	OR5B3_HUMAN	H	120	ENSP00000308270:R120H	ENSP00000308270:R120H	R	-	2	0	0	OR5B3	57927100	57927100	0.985000	0.35326	0.999000	0.59377	0.517000	0.34286	2.456000	0.44997	1.023000	0.39654	-0.237000	0.12165	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_001005469			91	90		453	443	1		1			0	0	113	0		1	0	0	0	0	0	0	91	453
OR5B12	390191	broad.mit.edu	37	11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423																																						ENST00000302572.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(703-705)gCc>gTc		olfactory receptor, family 5, subfamily B, member 12							78.0	75.0	76.0					11																	58206921		2201	4295	6496	SO:0001583	missense	390191	0	0					g.chr11:58206921G>A	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.704C>T	chr11.hg19:g.58206921G>A	ENSP00000306657:p.Ala235Val	0						p.A235V	NM_001004733.2	NP_001004733.1	1	2	3	2.000915	Q96R08	OR5BC_HUMAN		1	725	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	1	1	hg19	c.704C>T	CCDS31551.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016010	0.75161	.	.	ENSG00000172362	ENST00000302572	T	0.00342	8.03	4.3	4.3	0.51218	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.139797	0.32852	N	0.005562	T	0.00724	0.0024	M	0.80847	2.515	0.45867	D	0.998727	P	0.43169	0.8	P	0.55161	0.77	T	0.74853	-0.3523	10	0.62326	D	0.03	-24.8721	16.2624	0.82553	0.0:0.0:1.0:0.0	.	235	Q96R08	OR5BC_HUMAN	V	235	ENSP00000306657:A235V	ENSP00000306657:A235V	A	-	2	0	0	OR5B12	57963497	57963497	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.742000	0.55097	2.383000	0.81215	0.462000	0.41574	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_001004733			66	64		275	266	1		1			0	0	57	0		1	0	0	0	0	0	0	66	275
OR5B12	390191	broad.mit.edu	37	11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428																																						ENST00000302572.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(502-504)aGa>aTa		olfactory receptor, family 5, subfamily B, member 12							118.0	108.0	111.0					11																	58207122		2201	4295	6496	SO:0001583	missense	390191	0	0					g.chr11:58207122C>A	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.503G>T	chr11.hg19:g.58207122C>A	ENSP00000306657:p.Arg168Ile	0						p.R168I	NM_001004733.2	NP_001004733.1	1	2	3	2.000915	Q96R08	OR5BC_HUMAN		1	524	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	1	1	hg19	c.503G>T	CCDS31551.1	1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117468	0.20877	.	.	ENSG00000172362	ENST00000302572	T	0.37058	1.22	4.3	-0.761	0.11038	4.3	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.743067	0.12175	N	0.492642	T	0.27731	0.0682	L	0.48362	1.52	0.09310	N	1	B	0.31077	0.307	B	0.32342	0.144	T	0.21965	-1.0230	10	0.46703	T	0.11	-24.6222	6.1961	0.20550	0.0:0.3526:0.1345:0.5129	.	168	Q96R08	OR5BC_HUMAN	I	168	ENSP00000306657:R168I	ENSP00000306657:R168I	R	-	2	0	0	OR5B12	57963698	57963698	0.000000	0.05858	0.005000	0.12908	0.704000	0.40688	-0.318000	0.08050	-0.009000	0.14296	0.462000	0.41574	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.230332	1	0.170000	NM_001004733			59	58		316	311	1		1			0	0	71	0		1	0	0	0	0	0	0	59	316
ZFP91	80829	broad.mit.edu	37	11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	361	Interaction with MAP3K14/NIK.				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)			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)				GCAACTTCTGCGACATGCCAA	0.388																																						ENST00000316059.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999581	0.990000	1.000000																										0				26						c.(1081-1083)Cga>Tga		ZFP91 zinc finger protein							92.0	83.0	86.0					11																	58381795		2201	4294	6495	SO:0001587	stop_gained	80829	0	0					g.chr11:58381795C>T	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.1081C>T	chr11.hg19:g.58381795C>T	ENSP00000339030:p.Arg361*	0					ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	1	2	3	2.000915	Q96JP5	ZFP91_HUMAN		9	1252	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	0	1	hg19	c.1081C>T	CCDS31553.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.811760	0.98504	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0583	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000374569:R361X	R	+	1	2	2	ZFP91	58138371	58138371	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.320474	1	0.170000	NM_053023			31	31		204	198	0		1	1		0	0	70	0		1	1	0	15	0	209	0	31	204
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					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)			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)				CAATGCAGGCGCCCTCATCAC	0.537																																						ENST00000316059.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1402-1404)Gcc>Acc		ZFP91 zinc finger protein							55.0	50.0	52.0					11																	58384868		2201	4295	6496	SO:0001583	missense	80829	2	121408	33				g.chr11:58384868G>A	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.1402G>A	chr11.hg19:g.58384868G>A	ENSP00000339030:p.Ala468Thr	0					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	1	2	3	2.000915	Q96JP5	ZFP91_HUMAN		11	1573	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	1	1	hg19	c.1402G>A	CCDS31553.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	0	ZFP91	58141444	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_053023			54	52		205	199	0		1	1		0	0	43	0		1	1	0	19	0	203	0	54	205
ZFP91	80829	broad.mit.edu	37	11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	566					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)			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)				tGAAGATTCAGACTCTGCCGG	0.443																																						ENST00000316059.6	1.000000	0.290000	6.000000e-01	3.700000e-01	0.460000	0.506304	0.460000	0.460000																										0				26						c.(1696-1698)Gac>Tac		ZFP91 zinc finger protein							85.0	90.0	88.0					11																	58385162		2201	4295	6496	SO:0001583	missense	80829	0	0					g.chr11:58385162G>T	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.1696G>T	chr11.hg19:g.58385162G>T	ENSP00000339030:p.Asp566Tyr	0					ZFP91-CNTF_ENST00000389919.4_Intron	p.D566Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	1	2	3	2.000915	Q96JP5	ZFP91_HUMAN		11	1867	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	1	1	hg19	c.1696G>T	CCDS31553.1	0	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837418	0.50951	.	.	ENSG00000186660	ENST00000316059	T	0.14893	2.47	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.32526	0.0832	L	0.29908	0.895	0.46701	D	0.999162	D	0.65815	0.995	D	0.68192	0.956	T	0.01643	-1.1305	10	0.87932	D	0	-20.1467	19.1254	0.93380	0.0:0.0:1.0:0.0	.	566	Q96JP5	ZFP91_HUMAN	Y	566	ENSP00000339030:D566Y	ENSP00000339030:D566Y	D	+	1	0	0	ZFP91	58141738	58141738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.826000	0.97356	0.655000	0.94253	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-4.085970	1	0.170000	NM_053023			22	22		548	533	0		1	1		0	0	99	0		9.999983e-01	9.976315e-01	0	19	0	218	0	22	548
GLYATL1	92292	broad.mit.edu	37	11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000317391.4	+	8	987	c.647T>A	c.(646-648)gTc>gAc	p.V216D	GLYATL1_ENST00000300079.5_Missense_Mutation_p.V247D|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	216						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532																																						ENST00000317391.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(646-648)gTc>gAc		glycine-N-acyltransferase-like 1	Glycine(DB00145)						52.0	50.0	50.0					11																	58723238		2201	4295	6496	SO:0001583	missense	92292	0	0					g.chr11:58723238T>A	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.647T>A	chr11.hg19:g.58723238T>A	ENSP00000322223:p.Val216Asp	0					RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V247D|RP11-142C4.6_ENST00000533954.1_RNA	p.V216D	NM_001220494.1	NP_001207423.1	1	2	3	2.000915	Q969I3	GLYL1_HUMAN		8	987	+			A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	1	1	hg19	c.647T>A	CCDS55768.1	1	.	.	.	.	.	.	.	.	.	.	.	1.884	-0.457231	0.04540	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16597	2.33;2.33	2.62	-5.25	0.02781	2.62	-5.25	0.02781	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.743380	0.03968	U	0.291199	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.30909	-0.9962	10	0.14656	T	0.56	.	3.8067	0.08780	0.5822:0.2383:0.0:0.1796	.	247;216	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	193;216;247	ENSP00000322223:V216D;ENSP00000300079:V247D	ENSP00000300079:V247D	V	+	2	0	0	GLYATL1	58479814	58479814	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.651000	0.00203	-0.886000	0.03966	0.338000	0.21704	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-19.993260	1	0.170000	NM_080661			41	41		207	204	1		1			0	0	37	0		1	0	0	0	0	0	0	41	207
FAM111A	63901	broad.mit.edu	37	11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	289					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)			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)				GAAAAGAAACACCTGTGTGTT	0.378																																						ENST00000528737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(865-867)Acc>Gcc		family with sequence similarity 111, member A							44.0	48.0	47.0					11																	58920006		2201	4295	6496	SO:0001583	missense	63901	0	0					g.chr11:58920006A>G	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.865A>G	chr11.hg19:g.58920006A>G	ENSP00000434435:p.Thr289Ala	0					FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A	p.T289A			1	2	3	2.000915	Q96PZ2	F111A_HUMAN		5	3683	+		all_epithelial(135;0.139)	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	1	1	hg19	c.865A>G	CCDS7973.1	1	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089693	0.20390	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	-5.73	0.02398	5.65	-5.73	0.02398	.	1.275090	0.04949	N	0.459945	T	0.27933	0.0688	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16424	-1.0403	10	0.16896	T	0.51	-9.762	5.2132	0.15329	0.2643:0.1307:0.4914:0.1137	.	289	Q96PZ2	F111A_HUMAN	A	289	ENSP00000434435:T289A;ENSP00000406683:T289A;ENSP00000355264:T289A;ENSP00000433154:T289A;ENSP00000431631:T289A	ENSP00000355264:T289A	T	+	1	0	0	FAM111A	58676582	58676582	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.516000	0.02250	-1.056000	0.03205	0.528000	0.53228	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_022074			52	51		266	262	1		1	1		0	0	77	0		1	9.999465e-01	0	21	0	54	0	52	266
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	C	T	rs201314346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512	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)			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)				CAGAGTATGTCCATATGTATA	0.428																																						ENST00000528737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1534-1536)gtC>gtT		family with sequence similarity 111, member A							94.0	97.0	96.0					11																	58920677		2201	4295	6496	SO:0001819	synonymous_variant	63901	2	121410	40				g.chr11:58920677C>T	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.1536C>T	chr11.hg19:g.58920677C>T		0					FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V	p.V512V			1	2	3	2.000915	Q96PZ2	F111A_HUMAN		5	4354	+		all_epithelial(135;0.139)	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	1	1	hg19	c.1536C>T	CCDS7973.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	0	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_022074			108	107		471	463	1		1	1		0	0	132	0		1	9.984231e-01	0	9	0	35	0	108	471
DTX4	23220	broad.mit.edu	37	11	58949753	58949753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	251					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642																																						ENST00000227451.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(751-753)aaG>aaA		deltex 4, E3 ubiquitin ligase							34.0	46.0	42.0					11																	58949753		2115	4241	6356	SO:0001819	synonymous_variant	23220	0	0					g.chr11:58949753G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.753G>A	chr11.hg19:g.58949753G>A		0					DTX4_ENST00000532982.1_Silent_p.K145K	p.K251K	NM_015177.1	NP_055992.1	1	2	3	2.000915	Q9Y2E6	DTX4_HUMAN		2	857	+		all_epithelial(135;0.125)	Q0VF38	Silent	SNP	ENST00000227451.3	1	1	hg19	c.753G>A	CCDS44612.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	1	0	1		2	2	2	0		0	0	25		25	22	1	2.060000	-20.000000	1	0.170000	XM_166213			32	30		100	96	1		1	1		0	0	25	0		1	9.999098e-01	0	19	0	31	0	32	100
MPEG1	219972	broad.mit.edu	37	11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A	rs369599067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	639						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATGGCCCTCCGCAGCTCTATC	0.552																																						ENST00000361050.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1915-1917)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,3931		0,1,1965	95.0	103.0	100.0		1915	5.7	0.9	11		100	0,8270		0,0,4135	no	missense	MPEG1	NM_001039396.1	101	0,1,6100	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging	639/717	58978424	1,12201	1966	4135	6101	SO:0001583	missense	219972	4	120880	39				g.chr11:58978424G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1915C>T	chr11.hg19:g.58978424G>A	ENSP00000354335:p.Arg639Trp	0						p.R639W	NM_001039396.1	NP_001034485.1	1	2	3	2.000915	Q2M385	MPEG1_HUMAN		1	2000	-		all_epithelial(135;0.125)	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	1	1	hg19	c.1915C>T	CCDS41650.1	1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484135	0.26598	2.54E-4	0.0	ENSG00000197629	ENST00000361050	T	0.24350	1.86	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.466187	0.23481	N	0.047712	T	0.35219	0.0924	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.38112	-0.9676	10	0.66056	D	0.02	-13.3692	10.7561	0.46237	0.086:0.0:0.914:0.0	.	639	Q2M385	MPEG1_HUMAN	W	639	ENSP00000354335:R639W	ENSP00000354335:R639W	R	-	1	2	2	MPEG1	58735000	58735000	0.007000	0.16637	0.940000	0.37924	0.049000	0.14656	1.633000	0.37113	2.682000	0.91365	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	1	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_001039396			158	156		596	590	1		1	1		0	0	150	0		1	1	0	2	0	105	0	158	596
MPEG1	219972	broad.mit.edu	37	11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	rs149377168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	55	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCACATTCCGCAGATTGTCC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20158	0.0		0.001	False		,,,				2504	0.0					ENST00000361050.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(163-165)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,4029		0,1,2014	158.0	158.0	158.0		163	2.1	1.0	11	dbSNP_134	158	8,8346		0,8,4169	yes	missense	MPEG1	NM_001039396.1	101	0,9,6183	AA,AG,GG		0.0958,0.0248,0.0727	probably-damaging	55/717	58980176	9,12375	2015	4177	6192	SO:0001583	missense	219972	51	120934	53				g.chr11:58980176G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.163C>T	chr11.hg19:g.58980176G>A	ENSP00000354335:p.Arg55Trp	0					RN7SL42P_ENST00000579786.1_RNA	p.R55W	NM_001039396.1	NP_001034485.1	1	2	3	2.000915	Q2M385	MPEG1_HUMAN		1	248	-		all_epithelial(135;0.125)	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	1	1	hg19	c.163C>T	CCDS41650.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.79	3.221692	0.58560	2.48E-4	9.58E-4	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.30182	1.54	5.41	2.07	0.26955	5.41	2.07	0.26955	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.81497	2.545	0.41927	D	0.990546	D	0.89917	1.0	D	0.81914	0.995	T	0.61257	-0.7099	10	0.87932	D	0	-28.9473	12.4979	0.55940	0.0:0.0:0.5087:0.4913	.	55	Q2M385	MPEG1_HUMAN	W	55	ENSP00000354335:R55W	ENSP00000354335:R55W	R	-	1	2	2	MPEG1	58736752	58736752	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	0.603000	0.29913	0.644000	0.83932	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	0	0	1		2	2	2	0		0	0	195		195	195	1	2.060000	-3.364966	1	0.170000	NM_001039396			179	174		703	684	1		1	0		0	0	195	0		1	1	0	0	0	98	0	179	703
OR5A2	219981	broad.mit.edu	37	11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478																																						ENST00000302040.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(700-702)Ggt>Agt		olfactory receptor, family 5, subfamily A, member 2							108.0	98.0	101.0					11																	59189727		2201	4295	6496	SO:0001583	missense	219981	0	0					g.chr11:59189727C>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.700G>A	chr11.hg19:g.59189727C>T	ENSP00000303834:p.Gly234Ser	0						p.G234S	NM_001001954.1	NP_001001954.1	1	2	3	2.000915	Q8NGI9	OR5A2_HUMAN		1	722	-			B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	1	1	hg19	c.700G>A	CCDS31560.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.433395	0.96150	.	.	ENSG00000172324	ENST00000302040	T	0.00293	8.26	5.56	5.56	0.83823	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002992	T	0.00784	0.0026	M	0.80332	2.49	0.34768	D	0.733422	D	0.89917	1.0	D	0.97110	1.0	T	0.66555	-0.5894	10	0.72032	D	0.01	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	234	Q8NGI9	OR5A2_HUMAN	S	234	ENSP00000303834:G234S	ENSP00000303834:G234S	G	-	1	0	0	OR5A2	58946303	58946303	0.536000	0.26378	0.576000	0.28549	0.753000	0.42808	2.016000	0.40971	2.787000	0.95880	0.650000	0.86243	GGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.162104	1	0.170000	NM_001001954			39	38		185	182	1		1			0	0	50	0		1	0	0	0	0	0	0	39	185
OR5A1	219982	broad.mit.edu	37	11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547																																						ENST00000302030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(727-729)aCg>aTg		olfactory receptor, family 5, subfamily A, member 1							288.0	235.0	253.0					11																	59211369		2201	4295	6496	SO:0001583	missense	219982	1	121412	38				g.chr11:59211369C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.728C>T	chr11.hg19:g.59211369C>T	ENSP00000303096:p.Thr243Met	0						p.T243M	NM_001004728.1	NP_001004728.1	1	2	3	2.000915	Q8NGJ0	OR5A1_HUMAN		1	753	+			B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	1	1	hg19	c.728C>T	CCDS31561.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473797	0.43942	.	.	ENSG00000172320	ENST00000302030	T	0.42513	0.97	5.98	5.07	0.68467	5.98	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76314	0.3970	H	0.96662	3.86	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	10	0.87932	D	0	-29.9675	15.5041	0.75725	0.1393:0.8607:0.0:0.0	.	243	Q8NGJ0	OR5A1_HUMAN	M	243	ENSP00000303096:T243M	ENSP00000303096:T243M	T	+	2	0	0	OR5A1	58967945	58967945	1.000000	0.71417	0.160000	0.22671	0.002000	0.02628	4.858000	0.62947	1.532000	0.49169	0.650000	0.86243	ACG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	1	0	1		2	2	2	0		0	0	170		170	168	1	2.060000	-20.000000	1	0.170000	NM_001004728			185	182		784	766	1		1			0	0	170	0		1	0	0	0	0	0	0	185	784
OR4D6	219983	broad.mit.edu	37	11	59225177	59225177	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						TGGTGGTGACTCTTCACTTCG	0.552																																						ENST00000300127.2	1.000000	0.240000	5.600000e-01	3.200000e-01	0.420000	0.467124	0.420000	0.410000																										0				34						c.(742-744)acT>acA		olfactory receptor, family 4, subfamily D, member 6							119.0	108.0	112.0					11																	59225177		2201	4295	6496	SO:0001819	synonymous_variant	219983	0	0					g.chr11:59225177T>A	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.744T>A	chr11.hg19:g.59225177T>A		0						p.T248T	NM_001004708.1	NP_001004708.1	1	2	3	2.000915	Q8NGJ1	OR4D6_HUMAN		1	767	+			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	1	1	hg19	c.744T>A	CCDS31562.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-15.459810	1	0.170000	NM_001004708			16	15		445	435	0		1			0	0	98	0		9.999215e-01	0	0	0	0	0	0	16	445
OR4D11	219986	broad.mit.edu	37	11	59271327	59271327	+	Silent	SNP	C	C	A	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468																																						ENST00000313253.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily D, member 11							188.0	178.0	181.0					11																	59271327		2201	4295	6496	SO:0001819	synonymous_variant	219986	0	0					g.chr11:59271327C>A	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.279C>A	chr11.hg19:g.59271327C>A		0						p.S93S	NM_001004706.1	NP_001004706.1	1	2	3	2.000915	Q8NGI4	OR4DB_HUMAN		1	279	+				Silent	SNP	ENST00000313253.1	1	1	hg19	c.279C>A	CCDS31563.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	1	0	1		2	2	2	0		0	0	166		166	165	1	2.060000	-3.583115	1	0.170000	NM_001004706			198	196		801	783	1		1			0	0	166	0		1	0	0	0	0	0	0	198	801
PATL1	219988	broad.mit.edu	37	11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	189	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532																																						ENST00000300146.9	1.000000	0.310000	6.700000e-01	4.000000e-01	0.510000	0.550899	0.510000	0.490000																										0				11						c.(565-567)Gct>Tct		protein associated with topoisomerase II homolog 1 (yeast)							129.0	123.0	125.0					11																	59425059		1915	4124	6039	SO:0001583	missense	219988	0	0					g.chr11:59425059C>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.565G>T	chr11.hg19:g.59425059C>A	ENSP00000300146:p.Ala189Ser	0						p.A189S	NM_152716.2	NP_689929.2	1	2	3	2.000915	Q86TB9	PATL1_HUMAN		5	649	-			B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	1	1	hg19	c.565G>T	CCDS44613.1	0	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303311	0.81136	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.175531	0.48286	D	0.000184	T	0.60521	0.2275	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.67103	0.915;0.949	T	0.50030	-0.8875	10	0.13470	T	0.59	-13.813	19.3278	0.94270	0.0:1.0:0.0:0.0	.	189;189	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	S	189	ENSP00000300146:A189S	ENSP00000300146:A189S	A	-	1	0	0	PATL1	59181635	59181635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.889000	0.63171	2.653000	0.90120	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-4.299999	1	0.170000	NM_152716			18	18		408	400	0		1	1		0	0	100	0		9.999798e-01	9.711010e-01	0	12	0	122	0	18	408
STX3	6809	broad.mit.edu	37	11	59558002	59558002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59558002G>A	ENST00000337979.4	+	5	847	c.300G>A	c.(298-300)aaG>aaA	p.K100K	STX3_ENST00000535361.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K|STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000529177.1_Silent_p.K100K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	100					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCATGGAGAAGCATATTGAAG	0.453																																						ENST00000337979.4	1.000000	0.120000	5.100000e-01	2.000000e-01	0.320000	0.378238	0.320000	0.280000																										0				13						c.(298-300)aaG>aaA		syntaxin 3							138.0	116.0	124.0					11																	59558002		2201	4295	6496	SO:0001819	synonymous_variant	6809	1	121412	34				g.chr11:59558002G>A	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.300G>A	chr11.hg19:g.59558002G>A		0					STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000535361.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K	p.K100K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	1	2	3	2.000915	Q13277	STX3_HUMAN		5	847	+			B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	0	1	hg19	c.300G>A	CCDS7975.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	0	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-6.568459	1	0.170000	NM_004177			5	5		200	197	0		1	1		0	0	52	0		9.358716e-01	7.729209e-01	0	5	0	107	0	5	200
STX3	6809	broad.mit.edu	37	11	59560891	59560891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000337979.4	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E|STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000529177.1_Silent_p.E193E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	193	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517																																						ENST00000337979.4	1.000000	0.780000	1	9.600000e-01	0.990000	0.978426	0.990000	1.000000																										0				13						c.(577-579)gaG>gaA		syntaxin 3							115.0	92.0	100.0					11																	59560891		2201	4295	6496	SO:0001819	synonymous_variant	6809	0	0					g.chr11:59560891G>A	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.579G>A	chr11.hg19:g.59560891G>A		0					STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E	p.E193E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	1	2	3	2.000915	Q13277	STX3_HUMAN		8	1126	+			B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	1	1	hg19	c.579G>A	CCDS7975.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_004177			26	26		241	238	1		1	1		0	0	63	0		9.999999e-01	9.939626e-01	0	14	0	63	0	26	241
STX3	6809	broad.mit.edu	37	11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000337979.4	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T|STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	208	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527																																						ENST00000337979.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(622-624)aTc>aCc		syntaxin 3							137.0	109.0	118.0					11																	59560935		2201	4295	6496	SO:0001583	missense	6809	0	0					g.chr11:59560935T>C	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.623T>C	chr11.hg19:g.59560935T>C	ENSP00000338562:p.Ile208Thr	0					STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	p.I208T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	1	2	3	2.000915	Q13277	STX3_HUMAN		8	1170	+			B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	1	1	hg19	c.623T>C	CCDS7975.1	1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587465	0.86851	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.1	5.1	0.69264	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.096090	0.64402	D	0.000001	T	0.73575	0.3604	H	0.97829	4.085	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.87578	0.998;0.994;0.989;0.994	D	0.83883	0.0280	10	0.87932	D	0	-14.0091	13.7201	0.62720	0.0:0.0:0.0:1.0	.	111;208;208;208	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	177;208;208;111;208;160	ENSP00000300150:I177T;ENSP00000338562:I208T;ENSP00000441649:I208T;ENSP00000393536:I111T;ENSP00000433248:I208T;ENSP00000431386:I160T	ENSP00000300150:I177T	I	+	2	0	0	STX3	59317511	59317511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	1.909000	0.55274	0.528000	0.53228	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_004177			43	42		228	220	1		1	1		0	0	52	0		1	9.999996e-01	0	41	0	82	0	43	228
TCN1	6947	broad.mit.edu	37	11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	424	Globular C-terminal beta 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)			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)	TCCAAGTTTTCTCCATTGCGG	0.413																																						ENST00000257264.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1270-1272)Gaa>Aaa		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148.0	146.0	147.0					11																	59620480		2201	4295	6496	SO:0001583	missense	6947	0	0					g.chr11:59620480C>T	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.1270G>A	chr11.hg19:g.59620480C>T	ENSP00000257264:p.Glu424Lys	0					TCN1_ENST00000532419.1_5'Flank	p.E424K	NM_001062.3	NP_001053.2	1	2	3	2.000915	P20061	TCO1_HUMAN		9	1374	-		all_epithelial(135;0.198)	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	1	1	hg19	c.1270G>A	CCDS7978.1	1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319130	0.60524	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.192482	0.33290	N	0.005077	T	0.47581	0.1453	M	0.82193	2.58	0.25364	N	0.988751	D	0.54047	0.964	P	0.50314	0.637	T	0.51988	-0.8635	10	0.66056	D	0.02	7.206	13.7737	0.63039	0.0:1.0:0.0:0.0	.	424	P20061	TCO1_HUMAN	K	424	ENSP00000257264:E424K	ENSP00000257264:E424K	E	-	1	0	0	TCN1	59377056	59377056	0.665000	0.27466	0.932000	0.37286	0.107000	0.19398	2.374000	0.44274	2.620000	0.88729	0.650000	0.86243	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	1	0	1		2	2	2	0		0	0	178		178	178	1	2.060000	-20.000000	1	0.170000	NM_001062			138	137		633	619	1		1	1		0	0	178	0		1	1	0	318	0	315	0	138	633
TCN1	6947	broad.mit.edu	37	11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	38	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)			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)	ATTCAACAGAGGTTTTAGGCG	0.428																																						ENST00000257264.3	1.000000	0.710000	1	8.100000e-01	0.930000	0.918350	0.930000	1.000000																										0				29						c.(112-114)cCt>cAt		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						207.0	200.0	202.0					11																	59631526		2201	4294	6495	SO:0001583	missense	6947	0	0					g.chr11:59631526G>T	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.113C>A	chr11.hg19:g.59631526G>T	ENSP00000257264:p.Pro38His	0					TCN1_ENST00000532419.1_5'UTR	p.P38H	NM_001062.3	NP_001053.2	1	2	3	2.000915	P20061	TCO1_HUMAN		2	217	-		all_epithelial(135;0.198)	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	1	1	hg19	c.113C>A	CCDS7978.1	1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899915	0.52227	.	.	ENSG00000134827	ENST00000257264	T	0.34667	1.35	4.54	3.61	0.41365	4.54	3.61	0.41365	.	0.602001	0.15518	N	0.258174	T	0.32164	0.0820	M	0.63428	1.95	0.22710	N	0.998822	P	0.41159	0.74	B	0.37346	0.247	T	0.11012	-1.0605	10	0.17832	T	0.49	-2.6499	10.4549	0.44544	0.0:0.0:0.8044:0.1956	.	38	P20061	TCO1_HUMAN	H	38	ENSP00000257264:P38H	ENSP00000257264:P38H	P	-	2	0	0	TCN1	59388102	59388102	0.862000	0.29867	0.189000	0.23252	0.005000	0.04900	0.571000	0.23669	1.193000	0.43086	0.655000	0.94253	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-12.649180	1	0.170000	NM_001062			57	56		671	658	1		1	1		0	0	147	0		1	1	0	79	0	305	0	57	671
MS4A2	2206	broad.mit.edu	37	11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	59					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)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463																																						ENST00000278888.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(175-177)Gag>Aag		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						69.0	68.0	68.0					11																	59857283		2201	4295	6496	SO:0001583	missense	2206	0	0					g.chr11:59857283G>A	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.175G>A	chr11.hg19:g.59857283G>A	ENSP00000278888:p.Glu59Lys	0						p.E59K	NM_000139.4	NP_000130.1	1	2	3	2.000915	Q01362	FCERB_HUMAN		2	277	+		all_epithelial(135;0.245)	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	1	1	hg19	c.175G>A	CCDS7980.1	1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761028	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.14266	2.52	4.41	2.47	0.30058	4.41	2.47	0.30058	.	0.417922	0.25402	N	0.030940	T	0.13841	0.0335	L	0.32530	0.975	0.34137	D	0.665927	P	0.48834	0.916	P	0.48166	0.569	T	0.22243	-1.0222	9	.	.	.	-17.7271	10.8682	0.46869	0.0:0.3632:0.6368:0.0	.	59	Q01362	FCERB_HUMAN	K	59	ENSP00000278888:E59K	.	E	+	1	0	0	MS4A2	59613859	59613859	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.379000	0.44318	0.748000	0.32831	0.650000	0.86243	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-4.662553	1	0.170000				67	66		212	207	1		1	0		0	0	38	0		1	5.328744e-01	0	0	0	7	0	67	212
MS4A2	2206	broad.mit.edu	37	11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	85					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)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323																																						ENST00000278888.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(253-255)Att>Gtt		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						217.0	208.0	211.0					11																	59857875		2201	4295	6496	SO:0001583	missense	2206	0	0					g.chr11:59857875A>G	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.253A>G	chr11.hg19:g.59857875A>G	ENSP00000278888:p.Ile85Val	0						p.I85V	NM_000139.4	NP_000130.1	1	2	3	2.000915	Q01362	FCERB_HUMAN		3	355	+		all_epithelial(135;0.245)	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	1	1	hg19	c.253A>G	CCDS7980.1	1	.	.	.	.	.	.	.	.	.	.	A	0.282	-0.985742	0.02180	.	.	ENSG00000149534	ENST00000278888	T	0.02177	4.41	4.68	-7.35	0.01422	4.68	-7.35	0.01422	.	2.621580	0.01288	N	0.009922	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.46205	-0.9208	10	0.16420	T	0.52	2.0808	2.9836	0.05961	0.2451:0.2431:0.3929:0.1188	.	15;85	Q14298;Q01362	.;FCERB_HUMAN	V	85	ENSP00000278888:I85V	ENSP00000278888:I85V	I	+	1	0	0	MS4A2	59614451	59614451	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-1.536000	0.01738	-0.297000	0.09499	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000				127	125		566	559	1		1	0		0	0	127	0		1	3.791353e-01	0	0	0	7	0	127	566
MS4A6A	64231	broad.mit.edu	37	11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000530839.1	-	3	505	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443																																						ENST00000530839.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(13-15)Cct>Tct		membrane-spanning 4-domains, subfamily A, member 6A							214.0	191.0	199.0					11																	59949188		2201	4295	6496	SO:0001583	missense	64231	0	0					g.chr11:59949188G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.13C>T	chr11.hg19:g.59949188G>A	ENSP00000436979:p.Pro5Ser	0					MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S	p.P5S	NM_152852.2	NP_690591.1	1	2	3	2.000915	Q9H2W1	M4A6A_HUMAN		3	505	-			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	1	1	hg19	c.13C>T	CCDS7981.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295355	0.40594	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	3.75;3.76;3.08;3.75;3.68;2.85;3.69;1.79;2.19;2.1;1.63;-1.39	4.83	0.376	0.16193	4.83	0.376	0.16193	.	1.549850	0.03654	N	0.241465	D	0.86456	0.5937	M	0.61703	1.905	0.09310	N	1	B;D;B;D;B	0.71674	0.01;0.998;0.037;0.997;0.018	B;D;B;P;B	0.66979	0.015;0.948;0.025;0.888;0.028	T	0.67337	-0.5696	9	.	.	.	.	5.6964	0.17857	0.19:0.4038:0.4062:0.0	.	5;33;33;5;5	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	5;5;5;5;33;5;33;5;5;33;33;5	ENSP00000315878:P5S;ENSP00000431901:P5S;ENSP00000392921:P5S;ENSP00000436979:P5S;ENSP00000435844:P33S;ENSP00000392770:P5S;ENSP00000403212:P33S;ENSP00000436172:P5S;ENSP00000431266:P5S;ENSP00000433436:P33S;ENSP00000433012:P33S;ENSP00000437152:P5S	.	P	-	1	0	0	MS4A6A	59705764	59705764	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.094000	0.12374	-0.136000	0.14681	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000				133	132		675	653	1		1	0		0	0	155	0		1	1	0	0	0	667	0	133	675
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral component of membrane (GO:0016021)		p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453																																						ENST00000300182.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E89K(1)	lung(1)	13						c.(265-267)Gaa>Aaa		membrane-spanning 4-domains, subfamily A, member 6E							154.0	146.0	149.0					11																	60105331		2203	4300	6503	SO:0001583	missense	245802	0	0					g.chr11:60105331G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.265G>A	chr11.hg19:g.60105331G>A	ENSP00000300182:p.Glu89Lys	0						p.E89K	NM_139249.2	NP_640342.1	1	2	3	2.000915	Q96DS6	M4A6E_HUMAN		2	330	+			Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	1	1	hg19	c.265G>A	CCDS7984.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	0	MS4A6E	59861907	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000				113	112		515	507	1		1	0		0	0	131	0		1	3.297864e-02	0	0	0	2	0	113	515
MS4A7	58475	broad.mit.edu	37	11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000300184.3	+	2	221	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	9						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458																																						ENST00000300184.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(25-27)Ggg>Agg		membrane-spanning 4-domains, subfamily A, member 7							117.0	106.0	110.0					11																	60150639		2203	4300	6503	SO:0001583	missense	58475	0	0					g.chr11:60150639G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.25G>A	chr11.hg19:g.60150639G>A	ENSP00000300184:p.Gly9Arg	0					MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	p.G9R	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	1	2	3	2.000915	Q9GZW8	MS4A7_HUMAN		2	221	+			A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	1	1	hg19	c.25G>A	CCDS7985.1	1	.	.	.	.	.	.	.	.	.	.	G	7.112	0.576130	0.13623	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.53857	3.01;2.23;2.23;2.17;2.49;0.6	3.8	-2.88	0.05682	3.8	-2.88	0.05682	.	3.885760	0.00659	N	0.000595	T	0.28001	0.0690	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.04165	-1.0972	10	0.23891	T	0.37	-24.2312	1.0142	0.01504	0.4079:0.1555:0.2782:0.1584	.	9;9;9	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	R	9	ENSP00000300184:G9R;ENSP00000350983:G9R;ENSP00000434637:G9R;ENSP00000433861:G9R;ENSP00000434819:G9R;ENSP00000433184:G9R	ENSP00000300184:G9R	G	+	1	0	0	MS4A7	59907215	59907215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.629000	0.05575	-0.137000	0.14449	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.091060	1	0.170000				80	79		324	319	1		1	0		0	0	82	0		1	1	0	0	0	235	0	80	324
MS4A14	84689	broad.mit.edu	37	11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral component of membrane (GO:0016021)				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						GTTATGCCAAGATTCAGAATC	0.473																																						ENST00000300187.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1927-1929)Gat>Aat		membrane-spanning 4-domains, subfamily A, member 14							86.0	87.0	86.0					11																	60184368		2203	4300	6503	SO:0001583	missense	84689	0	0					g.chr11:60184368G>A	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.1927G>A	chr11.hg19:g.60184368G>A	ENSP00000300187:p.Asp643Asn	0					MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N	p.D643N	NM_032597.4	NP_115986.3	1	2	3	2.000915	Q96JA4	M4A14_HUMAN		5	2204	+			E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	1	1	hg19	c.1927G>A	CCDS31569.1	1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518792	0.27211	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.82;1.57;3.18	3.84	0.661	0.17874	3.84	0.661	0.17874	.	11.904300	0.00166	N	0.000000	T	0.22282	0.0537	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.40107	0.703;0.578	B;B	0.36959	0.237;0.12	T	0.13872	-1.0493	10	0.46703	T	0.11	-3.5619	4.6492	0.12587	0.2117:0.0:0.6156:0.1727	.	626;643	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	531;643;626;676	ENSP00000437222:D531N;ENSP00000300187:D643N;ENSP00000378453:D626N;ENSP00000433761:D676N	ENSP00000300187:D643N	D	+	1	0	0	MS4A14	59940944	59940944	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	0.371000	0.20450	0.025000	0.15241	0.650000	0.86243	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.530739	1	0.170000				70	69		293	287	1		1	1		0	0	67	0		1	8.402337e-01	0	2	0	14	0	70	293
MS4A1	931	broad.mit.edu	37	11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T	rs201354938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	24					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)			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)	TATTGCTATGCAATCTGGTCC	0.448													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1	1.000000	0.310000	7.200000e-01	4.100000e-01	0.540000	0.575572	0.540000	0.510000																										0				24						c.(70-72)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)						72.0	74.0	73.0					11																	60229917		2203	4300	6503	SO:0001587	stop_gained	931	4	121412	35				g.chr11:60229917C>T	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.70C>T	chr11.hg19:g.60229917C>T	ENSP00000433277:p.Gln24*	0					MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	p.Q24*	NM_152866.2	NP_690605.1	1	2	3	2.000915	P11836	CD20_HUMAN		2	359	+			A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	0	1	hg19	c.70C>T	CCDS31570.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.07	3.541864	0.65198	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000533306;ENST00000389939	.	.	.	5.21	1.14	0.20703	5.21	1.14	0.20703	.	0.693696	0.12943	N	0.426474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.1374	3.7868	0.08703	0.1675:0.5457:0.0:0.2868	.	.	.	.	X	24;24;24;24;27;24	.	ENSP00000314620:Q24X	Q	+	1	0	0	MS4A1	59986493	59986493	0.054000	0.20591	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	-0.044000	0.13491	0.655000	0.94253	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-4.486348	1	0.170000				15	14		325	317	0		1	0		0	0	75	0		9.998531e-01	4.087013e-02	0	0	0	7	0	15	325
MS4A1	931	broad.mit.edu	37	11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	212					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)			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)	AGCTGGCATCGTTGAGAATGA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18144	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(634-636)Gtt>Att		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	G	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	146.0	130.0	135.0		634,634	3.0	0.2	11	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	MS4A1	NM_021950.3,NM_152866.2	29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	212/298,212/298	60234492	5,13001	2203	4300	6503	SO:0001583	missense	931	11	121412	45				g.chr11:60234492G>A	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.634G>A	chr11.hg19:g.60234492G>A	ENSP00000433277:p.Val212Ile	0					MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	p.V212I	NM_152866.2	NP_690605.1	1	2	3	2.000915	P11836	CD20_HUMAN		6	923	+			A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	1	1	hg19	c.634G>A	CCDS31570.1	1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706724	0.30232	0.001135	0.0	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.27256	4.33;1.68;4.33;4.33	5.3	3.04	0.35103	5.3	3.04	0.35103	.	0.557191	0.17623	N	0.167661	T	0.24699	0.0599	M	0.68317	2.08	0.09310	N	1	B;D;D	0.57571	0.055;0.98;0.98	B;B;B	0.43754	0.011;0.43;0.43	T	0.11792	-1.0573	10	0.27082	T	0.32	-17.187	5.8159	0.18492	0.2652:0.0:0.7348:0.0	.	45;199;212	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	212;199;212;45;212	ENSP00000314620:V212I;ENSP00000433519:V199I;ENSP00000433277:V212I;ENSP00000374589:V212I	ENSP00000314620:V212I	V	+	1	0	0	MS4A1	59991068	59991068	0.696000	0.27757	0.172000	0.22920	0.071000	0.16799	2.818000	0.48041	1.387000	0.46486	-0.136000	0.14681	GTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				95	95		395	387	1		1	0		0	0	96	0		1	4.811798e-01	0	0	0	8	0	95	395
MS4A12	54860	broad.mit.edu	37	11	60271185	60271185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	161						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408																																						ENST00000016913.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(481-483)agC>agT		membrane-spanning 4-domains, subfamily A, member 12							160.0	141.0	147.0					11																	60271185		2203	4300	6503	SO:0001819	synonymous_variant	54860	0	0					g.chr11:60271185C>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.483C>T	chr11.hg19:g.60271185C>T		0					MS4A12_ENST00000537076.1_Silent_p.S115S	p.S161S	NM_017716.2	NP_060186.2	1	2	3	2.000915	Q9NXJ0	M4A12_HUMAN		5	540	+			F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	1	1	hg19	c.483C>T	CCDS7988.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				65	65		292	285	1		1			0	0	46	0		1	0	0	0	0	0	0	65	292
CCDC86	79080	broad.mit.edu	37	11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	360					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GGCAGCCAAGATCTGAGCTCA	0.637																																						ENST00000227520.5	1.000000	0.180000	5.100000e-01	2.600000e-01	0.360000	0.409980	0.360000	0.330000																										0				10						c.(1078-1080)Atc>Gtc		coiled-coil domain containing 86							29.0	36.0	33.0					11																	60617793		2203	4299	6502	SO:0001583	missense	79080	0	0					g.chr11:60617793A>G	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.1078A>G	chr11.hg19:g.60617793A>G	ENSP00000227520:p.Ile360Val	0					CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V|RP11-804A23.4_ENST00000538705.1_RNA	p.I360V	NM_024098.3	NP_077003.1	1	2	3	2.000915	Q9H6F5	CCD86_HUMAN		4	1132	+			B4DY99	Missense_Mutation	SNP	ENST00000227520.5	1	1	hg19	c.1078A>G	CCDS7993.1	0	.	.	.	.	.	.	.	.	.	.	A	6.718	0.501202	0.12822	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T	0.40225	1.04	4.66	-0.718	0.11205	4.66	-0.718	0.11205	.	0.837667	0.09890	N	0.742530	T	0.20455	0.0492	N	0.16307	0.4	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.02654	T	1	.	8.2856	0.31926	0.4016:0.0:0.5984:0.0	.	360	Q9H6F5	CCD86_HUMAN	V	360;104	ENSP00000227520:I360V	ENSP00000227520:I360V	I	+	1	0	0	CCDC86	60374369	60374369	0.090000	0.21635	0.653000	0.29593	0.649000	0.38597	0.229000	0.17833	-0.207000	0.10187	0.459000	0.35465	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	0	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-11.335110	1	0.170000	NM_024098			11	11		367	358	0		1	1		0	0	64	0		9.981589e-01	9.633866e-01	0	6	0	184	0	11	367
TMEM109	79073	broad.mit.edu	37	11	60689496	60689496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	TMEM132A_ENST00000453848.2_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A197A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197					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)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677																																						ENST00000227525.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(589-591)gcC>gcT		transmembrane protein 109							41.0	44.0	43.0					11																	60689496		2203	4298	6501	SO:0001819	synonymous_variant	79073	0	0					g.chr11:60689496C>T		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.591C>T	chr11.hg19:g.60689496C>T		0					RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000453848.2_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A197A|TMEM132A_ENST00000005286.4_5'Flank	p.A197A	NM_024092.2	NP_076997.1	1	2	3	2.000915	Q9BVC6	TM109_HUMAN		4	994	+				Silent	SNP	ENST00000227525.3	1	1	hg19	c.591C>T	CCDS7996.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_024092			65	63		340	333	1		1	1		0	0	67	0		1	1	0	12	0	235	0	65	340
TMEM132A	54972	broad.mit.edu	37	11	60696112	60696112	+	Silent	SNP	C	C	T	rs367807455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000453848.2	+	4	704	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000005286.4_Silent_p.G182G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	182						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642																																						ENST00000453848.2	1.000000	0.660000	1	7.700000e-01	0.910000	0.898424	0.910000	1.000000																										0				32						c.(544-546)ggC>ggT		transmembrane protein 132A		C	,	1,4317		0,1,2158	45.0	49.0	48.0		546,546	-5.8	0.9	11		48	0,8452		0,0,4226	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	0,1,6384	TT,TC,CC		0.0,0.0232,0.0078	,	182/1025,182/1024	60696112	1,12769	2159	4226	6385	SO:0001819	synonymous_variant	54972	4	120832	36				g.chr11:60696112C>T	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.546C>T	chr11.hg19:g.60696112C>T		0					TMEM132A_ENST00000005286.4_Silent_p.G182G	p.G182G			1	2	3	2.000915	Q24JP5	T132A_HUMAN		4	704	+			Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	1	1	hg19	c.546C>T	CCDS44618.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	0		2	2	2	0		0	0	105		105	102	1	2.060000	-3.318793	1	0.170000	NM_017870			40	40		484	474	0		1	1		0	0	105	0		1	9.987818e-01	0	5	0	118	0	40	484
TMEM132A	54972	broad.mit.edu	37	11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000453848.2	+	4	719	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E187D			Q24JP5	T132A_HUMAN	transmembrane protein 132A	187						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652																																						ENST00000453848.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(559-561)gaG>gaT		transmembrane protein 132A							44.0	47.0	46.0					11																	60696127		2198	4281	6479	SO:0001583	missense	54972	0	0					g.chr11:60696127G>T	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.561G>T	chr11.hg19:g.60696127G>T	ENSP00000405823:p.Glu187Asp	0					TMEM132A_ENST00000005286.4_Missense_Mutation_p.E187D	p.E187D			1	2	3	2.000915	Q24JP5	T132A_HUMAN		4	719	+			Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	1	1	hg19	c.561G>T	CCDS44618.1	1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628841	0.67015	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.08282	3.11;3.11	4.32	3.39	0.38822	4.32	3.39	0.38822	.	0.069858	0.52532	D	0.000062	T	0.19446	0.0467	L	0.60455	1.87	0.35948	D	0.833686	D;P;D	0.69078	0.997;0.884;0.994	D;B;P	0.66196	0.942;0.38;0.892	T	0.08513	-1.0718	10	0.87932	D	0	.	7.482	0.27411	0.2093:0.0:0.7907:0.0	.	176;187;187	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	D	187	ENSP00000405823:E187D;ENSP00000005286:E187D	ENSP00000005286:E187D	E	+	3	2	2	TMEM132A	60452703	60452703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	0.923000	0.37045	0.462000	0.41574	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_017870			80	81		426	419	1		1	1		0	0	95	0		1	9.999973e-01	0	5	0	94	0	80	426
TMEM132A	54972	broad.mit.edu	37	11	60697983	60697983	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000453848.2	+	5	1026	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000005286.4_Splice_Site_p.I290V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	290						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592																																						ENST00000453848.2	1.000000	0.770000	1	8.400000e-01	0.930000	0.928434	0.930000	1.000000																										0				32						c.(868-870)Atc>Gtc		transmembrane protein 132A							135.0	143.0	140.0					11																	60697983		2203	4299	6502	SO:0001630	splice_region_variant	54972	0	0					g.chr11:60697983A>G	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.867-1A>G	chr11.hg19:g.60697983A>G		0					TMEM132A_ENST00000005286.4_Splice_Site_p.I290V	p.I290V			1	2	3	2.000915	Q24JP5	T132A_HUMAN		5	1026	+			Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	1	0	hg19	c.868A>G	CCDS44618.1	1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171542	0.09391	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.11821	2.74;2.99;2.99	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.094640	0.46145	D	0.000307	T	0.11324	0.0276	N	0.24115	0.695	0.36711	D	0.88064	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.07520	-1.0768	10	0.87932	D	0	.	13.9837	0.64321	1.0:0.0:0.0:0.0	.	279;290;290	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	28;290;290	ENSP00000442754:I28V;ENSP00000405823:I290V;ENSP00000005286:I290V	ENSP00000005286:I290V	I	+	1	0	0	TMEM132A	60454559	60454559	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.396000	0.44468	2.184000	0.69523	0.533000	0.62120	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	1		2	2	2	0		0	0	255		255	252	1	2.060000	-20.000000	1	0.170000	NM_017870	Missense_Mutation		114	111		1337	1316	0		1	1		0	0	255	0		1	9.995714e-01	0	8	0	121	0	114	1337
SLC15A3	51296	broad.mit.edu	37	11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T	rs533865798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	521					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637																																						ENST00000227880.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1561-1563)Ggg>Agg		solute carrier family 15 (oligopeptide transporter), member 3							48.0	47.0	47.0					11																	60705372		2203	4299	6502	SO:0001583	missense	51296	6	121410	38				g.chr11:60705372C>T	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1561G>A	chr11.hg19:g.60705372C>T	ENSP00000227880:p.Gly521Arg	0						p.G521R	NM_016582.2	NP_057666.1	1	2	3	2.000915	Q8IY34	S15A3_HUMAN		7	1794	-			Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	1	1	hg19	c.1561G>A	CCDS7998.1	1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063654	0.07273	.	.	ENSG00000110446	ENST00000536784;ENST00000227880	T	0.59364	0.27	5.08	-0.155	0.13395	5.08	-0.155	0.13395	Major facilitator superfamily domain, general substrate transporter (1);	0.602516	0.16041	N	0.232412	T	0.44498	0.1296	M	0.65320	2	0.09310	N	1	B	0.23490	0.086	B	0.15484	0.013	T	0.31280	-0.9949	10	0.36615	T	0.2	-9.8456	2.0854	0.03645	0.1237:0.4217:0.2409:0.2136	.	521	Q8IY34	S15A3_HUMAN	R	29;521	ENSP00000227880:G521R	ENSP00000227880:G521R	G	-	1	0	0	SLC15A3	60461948	60461948	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-0.135000	0.10420	-0.108000	0.12066	-0.137000	0.14449	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-2.896832	1	0.170000	NM_016582			37	36		161	158	1		1	1		0	0	43	0		1	1	0	53	0	583	0	37	161
CD5	921	broad.mit.edu	37	11	60886791	60886791	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	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)			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)		GCCTGGGGGGTACCATCAGCT	0.612																																						ENST00000347785.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(547-549)ggT>ggC		CD5 molecule							56.0	60.0	59.0					11																	60886791		2203	4299	6502	SO:0001819	synonymous_variant	921	0	0					g.chr11:60886791T>C	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.549T>C	chr11.hg19:g.60886791T>C		0						p.G183G	NM_014207.3	NP_055022.2	1	2	3	2.000915	P06127	CD5_HUMAN		5	715	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	1	1	hg19	c.549T>C	CCDS8000.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	1	0	1		19	2	2	1		1	1	83		83	80	1	2.060000	-2.640624	1	0.170000	NM_014207			82	80		377	371	1		1	0		1	0	83	0		1	8.725741e-01	0	0	0	19	0	82	377
CD5	921	broad.mit.edu	37	11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	447					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)			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)		CCCCACAGCCTCCCACGTGGA	0.592																																						ENST00000347785.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1339-1341)Tcc>Ccc		CD5 molecule							202.0	145.0	164.0					11																	60892563		2203	4299	6502	SO:0001583	missense	921	0	0					g.chr11:60892563T>C	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.1339T>C	chr11.hg19:g.60892563T>C	ENSP00000342681:p.Ser447Pro	0						p.S447P	NM_014207.3	NP_055022.2	1	2	3	2.000915	P06127	CD5_HUMAN		9	1505	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	1	1	hg19	c.1339T>C	CCDS8000.1	1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744193	0.49151	.	.	ENSG00000110448	ENST00000347785	T	0.31769	1.48	4.99	2.52	0.30459	4.99	2.52	0.30459	.	0.254323	0.27901	N	0.017394	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.50440	0.641	T	0.09707	-1.0662	10	0.72032	D	0.01	-21.5538	9.1883	0.37184	0.0:0.0:0.358:0.642	.	447	P06127	CD5_HUMAN	P	447	ENSP00000342681:S447P	ENSP00000342681:S447P	S	+	1	0	0	CD5	60649139	60649139	0.000000	0.05858	0.014000	0.15608	0.694000	0.40290	0.316000	0.19469	0.280000	0.22209	0.379000	0.24179	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.312640	1	0.170000	NM_014207			49	48		227	225	1		1	0		0	0	63	0		1	9.959722e-01	0	0	0	42	0	49	227
VPS37C	55048	broad.mit.edu	37	11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T	rs556654929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	182	Pro-rich.		V -> D (in dbSNP:rs2232142). {ECO:0000269|PubMed:17974005}.		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)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCCTGGGGGACTGGGCGCACC	0.672																																						ENST00000301765.5	1.000000	0.930000	1	9.900000e-01	0.990000	0.995569	0.990000	1.000000																										0				7						c.(544-546)Gtc>Atc		vacuolar protein sorting 37 homolog C (S. cerevisiae)							17.0	20.0	19.0					11																	60899816		2197	4292	6489	SO:0001583	missense	55048	0	0					g.chr11:60899816C>T	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.544G>A	chr11.hg19:g.60899816C>T	ENSP00000301765:p.Val182Ile	0						p.V182I	NM_017966.4	NP_060436.4	1	2	3	2.000915	A5D8V6	VP37C_HUMAN		5	776	-			Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	0	1	hg19	c.544G>A	CCDS31573.1	1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165403	0.06461	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.42131	0.98	4.71	1.78	0.24846	4.71	1.78	0.24846	.	1.707430	0.03070	N	0.156996	T	0.29588	0.0738	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15752	-1.0426	10	0.20519	T	0.43	2.7763	8.3183	0.32113	0.0:0.754:0.0:0.246	.	182	A5D8V6	VP37C_HUMAN	I	182	ENSP00000301765:V182I	ENSP00000301765:V182I	V	-	1	0	0	VPS37C	60656392	60656392	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.810000	0.04505	0.979000	0.38497	0.462000	0.41574	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_017966			12	12		71	70	0		1	1		0	0	17	0		9.993081e-01	9.988977e-01	0	22	0	54	0	12	71
VWCE	220001	broad.mit.edu	37	11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	811						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582																																						ENST00000335613.5	1.000000	0.730000	1	9.200000e-01	0.990000	0.968787	0.990000	1.000000																										0				37						c.(2431-2433)caG>caT		von Willebrand factor C and EGF domains							55.0	57.0	56.0					11																	61026582		2203	4299	6502	SO:0001583	missense	220001	0	0					g.chr11:61026582C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2433G>T	chr11.hg19:g.61026582C>A	ENSP00000334186:p.Gln811His	0					VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	p.Q811H	NM_152718.2	NP_689931.2	1	2	3	1.991067	Q96DN2	VWCE_HUMAN		20	2819	-			A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	1	1	hg19	c.2433G>T	CCDS8002.1	1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588329	0.46110	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70631	-0.5;3.36	4.73	1.69	0.24217	4.73	1.69	0.24217	.	0.405020	0.18355	N	0.143759	T	0.61602	0.2360	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56147	-0.8027	10	0.87932	D	0	.	6.9739	0.24664	0.0:0.57:0.3356:0.0944	.	811	Q96DN2	VWCE_HUMAN	H	811;276	ENSP00000334186:Q811H;ENSP00000442570:Q276H	ENSP00000334186:Q811H	Q	-	3	2	2	VWCE	60783158	60783158	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.696000	0.05104	0.132000	0.18615	-0.140000	0.14226	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_152718			20	20		187	186	0		1	0		0	0	41	0		9.999963e-01	0	0	0	0	1	0	20	187
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																						ENST00000335613.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1522-1524)taC>taT		von Willebrand factor C and EGF domains							197.0	125.0	149.0					11																	61042028		2203	4299	6502	SO:0001819	synonymous_variant	220001	2	121412	33				g.chr11:61042028G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	chr11.hg19:g.61042028G>A		0					VWCE_ENST00000535710.1_5'Flank	p.Y508Y	NM_152718.2	NP_689931.2	1	2	3	1.991067	Q96DN2	VWCE_HUMAN		12	1910	-			A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	1	1	hg19	c.1524C>T	CCDS8002.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_152718			68	67		302	296	1		1	0		0	0	76	0		1	3.480931e-02	0	1	0	1	0	68	302
VWCE	220001	broad.mit.edu	37	11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	413	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602																																						ENST00000335613.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				37						c.(1237-1239)aaG>aaT		von Willebrand factor C and EGF domains							115.0	93.0	100.0					11																	61048181		2203	4299	6502	SO:0001583	missense	220001	0	0					g.chr11:61048181C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1239G>T	chr11.hg19:g.61048181C>A	ENSP00000334186:p.Lys413Asn	0						p.K413N	NM_152718.2	NP_689931.2	1	2	3	1.991067	Q96DN2	VWCE_HUMAN		9	1625	-			A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	1	1	hg19	c.1239G>T	CCDS8002.1	1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776415	0.16051	.	.	ENSG00000167992	ENST00000335613	T	0.73789	-0.78	5.65	0.467	0.16721	5.65	0.467	0.16721	von Willebrand factor, type C (4);	0.478171	0.19258	N	0.118755	T	0.41534	0.1163	N	0.03268	-0.37	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.04078	-1.0979	10	0.19590	T	0.45	.	1.8569	0.03181	0.1254:0.3965:0.122:0.3561	.	413	Q96DN2	VWCE_HUMAN	N	413	ENSP00000334186:K413N	ENSP00000334186:K413N	K	-	3	2	2	VWCE	60804757	60804757	0.378000	0.25114	0.454000	0.27019	0.687000	0.40016	-0.021000	0.12504	-0.151000	0.11176	-0.136000	0.14681	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.351921	1	0.170000	NM_152718			37	37		193	190	1		1			0	0	40	0		1	0	0	0	0	0	0	37	193
DDB1	1642	broad.mit.edu	37	11	61068386	61068386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000451943.2_Silent_p.T65T|DDB1_ENST00000538470.1_Silent_p.T125T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1078	Interaction with CDT1 and CUL4A.				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)			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						TCTTCCGCTCGGTGTGAAAGG	0.512								Nucleotide excision repair (NER)																														ENST00000301764.7	1.000000	0.280000	6.600000e-01	3.800000e-01	0.500000	0.529474	0.500000	0.480000																										0				48						c.(3232-3234)acC>acT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							158.0	138.0	144.0					11																	61068386		2203	4299	6502	SO:0001819	synonymous_variant	1642	5	121412	37				g.chr11:61068386G>A	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.3234C>T	chr11.hg19:g.61068386G>A		0					DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000451943.2_Silent_p.T65T	p.T1078T	NM_001923.4	NP_001914.3	1	2	3	1.991067	Q16531	DDB1_HUMAN		26	3631	-			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	1	1	hg19	c.3234C>T	CCDS31576.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-2.640440	1	0.170000	NM_001923			14	13		326	320	0		1	1		0	0	70	0		9.997325e-01	9.999995e-01	0	45	0	656	0	14	326
DDB1	1642	broad.mit.edu	37	11	61068395	61068395	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000451943.2_Silent_p.S62S|DDB1_ENST00000538470.1_Silent_p.S122S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1075	Interaction with CDT1 and CUL4A.				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)			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						CGGTGTGAAAGGATCTCCAGG	0.502								Nucleotide excision repair (NER)																														ENST00000301764.7	1.000000	0.190000	5.200000e-01	2.700000e-01	0.370000	0.412475	0.370000	0.350000																										0				48						c.(3223-3225)tcC>tcA	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							160.0	139.0	146.0					11																	61068395		2203	4299	6502	SO:0001819	synonymous_variant	1642	0	0					g.chr11:61068395G>T	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.3225C>A	chr11.hg19:g.61068395G>T		0					DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000451943.2_Silent_p.S62S	p.S1075S	NM_001923.4	NP_001914.3	1	2	3	1.991067	Q16531	DDB1_HUMAN		26	3622	-			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	1	1	hg19	c.3225C>A	CCDS31576.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-3.140273	1	0.170000	NM_001923			10	10		317	311	0		1	1		0	0	71	0		9.966999e-01	9.999856e-01	0	31	0	730	0	10	317
DDB1	1642	broad.mit.edu	37	11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	703	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				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)			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						CTCATCGATGGTGCCAATGGT	0.552								Nucleotide excision repair (NER)																														ENST00000301764.7	1.000000	0.740000	1	8.400000e-01	0.960000	0.937788	0.960000	1.000000																										0				48						c.(2107-2109)aCc>aTc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							173.0	160.0	165.0					11																	61079518		2203	4299	6502	SO:0001583	missense	1642	0	0					g.chr11:61079518G>A	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.2108C>T	chr11.hg19:g.61079518G>A	ENSP00000301764:p.Thr703Ile	0					DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	p.T703I	NM_001923.4	NP_001914.3	1	2	3	1.991067	Q16531	DDB1_HUMAN		17	2505	-			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	1	1	hg19	c.2108C>T	CCDS31576.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.074833	0.94000	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.32023	1.47;1.47	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.60984	-0.7154	10	0.54805	T	0.06	-30.8279	19.9702	0.97282	0.0:0.0:1.0:0.0	.	703	Q16531	DDB1_HUMAN	I	703;170	ENSP00000301764:T703I;ENSP00000444650:T170I	ENSP00000301764:T703I	T	-	2	0	0	DDB1	60836094	60836094	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.869000	0.99810	2.724000	0.93272	0.491000	0.48974	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-14.831750	1	0.170000	NM_001923			62	62		700	685	1		1	1		0	0	161	0		1	1	0	80	0	485	0	62	700
DDB1	1642	broad.mit.edu	37	11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	686	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				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)			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						GTCAGGATAGCCATCTGAATT	0.438								Nucleotide excision repair (NER)																														ENST00000301764.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2056-2058)gGc>gAc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							137.0	131.0	133.0					11																	61080983		2203	4299	6502	SO:0001583	missense	1642	0	0					g.chr11:61080983C>T	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.2057G>A	chr11.hg19:g.61080983C>T	ENSP00000301764:p.Gly686Asp	0					DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	p.G686D	NM_001923.4	NP_001914.3	1	2	3	1.991067	Q16531	DDB1_HUMAN		16	2454	-			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	1	1	hg19	c.2057G>A	CCDS31576.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181655	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.049844	0.85682	D	0.000000	T	0.30230	0.0758	L	0.50333	1.59	0.80722	D	1	P	0.41748	0.761	B	0.36885	0.235	T	0.03993	-1.0986	10	0.21014	T	0.42	-24.9162	19.7096	0.96089	0.0:1.0:0.0:0.0	.	686	Q16531	DDB1_HUMAN	D	686;153	ENSP00000301764:G686D;ENSP00000444650:G153D	ENSP00000301764:G686D	G	-	2	0	0	DDB1	60837559	60837559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.652000	0.90054	0.655000	0.94253	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.384666	1	0.170000	NM_001923			56	56		264	258	1		1	1		0	0	70	0		1	1	0	141	0	379	0	56	264
CPSF7	79869	broad.mit.edu	37	11	61187476	61187476	+	Silent	SNP	G	G	A	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000394888.4	-	5	640	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000340437.4_Silent_p.D199D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	156	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		16378	0.0		0.002	False		,,,				2504	0.002					ENST00000394888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(466-468)gaC>gaT		cleavage and polyadenylation specific factor 7, 59kDa		G	,,	0,4404		0,0,2202	105.0	109.0	107.0		468,468,597	-7.0	0.8	11	dbSNP_134	107	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,	156/472,156/463,199/515	61187476	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79869	58	121412	51				g.chr11:61187476G>A		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.468C>T	chr11.hg19:g.61187476G>A		0					CPSF7_ENST00000340437.4_Silent_p.D199D|CPSF7_ENST00000448745.1_Silent_p.D156D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR	p.D156D	NM_001136040.2	NP_001129512.1	1	2	3	1.991067	Q8N684	CPSF7_HUMAN		5	640	-			B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	1	1	hg19	c.468C>T	CCDS44619.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	1	0	1		2	2	2	0		0	0	125		125	119	1	2.060000	-3.109244	1	0.170000	NM_024811			112	107		483	460	1		1	1		0	0	125	0		1	1	0	30	0	74	0	112	483
SYT7	9066	broad.mit.edu	37	11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000263846.4	-	8	1274	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	316	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562																																						ENST00000263846.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(946-948)cGg>cAg		synaptotagmin VII							209.0	164.0	179.0					11																	61290707		2202	4299	6501	SO:0001583	missense	9066	1	121412	34				g.chr11:61290707C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.947G>A	chr11.hg19:g.61290707C>T	ENSP00000263846:p.Arg316Gln	0					SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q	p.R316Q	NM_004200.3	NP_004191.2	1	2	3	1.991067	O43581	SYT7_HUMAN		8	1274	-			F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	1	1	hg19	c.947G>A	CCDS31577.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697219	0.88830	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.53	4.53	0.55603	4.53	4.53	0.55603	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	D	0.83101	0.5181	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.925;0.939	D	0.85729	0.1330	10	0.87932	D	0	.	17.8501	0.88744	0.0:1.0:0.0:0.0	.	391;316	F5GZU9;O43581	.;SYT7_HUMAN	Q	316;391;599;360;524;435	ENSP00000263846:R316Q;ENSP00000444201:R391Q;ENSP00000439694:R599Q;ENSP00000444568:R360Q;ENSP00000444019:R524Q;ENSP00000437720:R435Q	ENSP00000263846:R316Q	R	-	2	0	0	SYT7	61047283	61047283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.524000	0.85096	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-2.488598	0	0.170000	NM_004200			85	83		398	383	1		1	0		0	0	117	0		1	9.918541e-01	0	1	0	36	0	85	398
SYT7	9066	broad.mit.edu	37	11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000263846.4	-	5	784	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	153	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617																																						ENST00000263846.4	1.000000	0.620000	1	7.300000e-01	0.850000	0.858173	0.850000	1.000000																										0				15						c.(457-459)Acc>Gcc		synaptotagmin VII							76.0	80.0	78.0					11																	61295552		2202	4299	6501	SO:0001583	missense	9066	0	0					g.chr11:61295552T>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.457A>G	chr11.hg19:g.61295552T>C	ENSP00000263846:p.Thr153Ala	0					SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A	p.T153A	NM_004200.3	NP_004191.2	1	2	3	1.991067	O43581	SYT7_HUMAN		5	784	-			F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	1	1	hg19	c.457A>G	CCDS31577.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101750	0.76983	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.44	4.44	0.53790	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.045776	0.85682	D	0.000000	T	0.68439	0.3001	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.26318	0.12;0.146	B;B	0.42771	0.342;0.397	T	0.63260	-0.6677	10	0.19147	T	0.46	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	228;153	F5GZU9;O43581	.;SYT7_HUMAN	A	153;228;436;197;361;272;153	ENSP00000263846:T153A;ENSP00000444201:T228A;ENSP00000439694:T436A;ENSP00000444568:T197A;ENSP00000444019:T361A;ENSP00000437720:T272A;ENSP00000443576:T153A	ENSP00000263846:T153A	T	-	1	0	0	SYT7	61052128	61052128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.960000	0.56953	0.459000	0.35465	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_004200			40	38		514	505	0		1	0		0	0	86	0		1	5.087585e-01	0	0	0	23	0	40	514
SYT7	9066	broad.mit.edu	37	11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000263846.4	-	2	419	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	31					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667																																						ENST00000263846.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999768	0.990000	1.000000																										0				15						c.(91-93)aCt>aAt		synaptotagmin VII							71.0	57.0	61.0					11																	61323619		2202	4299	6501	SO:0001583	missense	9066	0	0					g.chr11:61323619G>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.92C>A	chr11.hg19:g.61323619G>T	ENSP00000263846:p.Thr31Asn	0					SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N	p.T31N	NM_004200.3	NP_004191.2	1	2	3	1.991067	O43581	SYT7_HUMAN		2	419	-			F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	1	1	hg19	c.92C>A	CCDS31577.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494952	0.85069	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.59083	0.41;0.29;0.52;0.38;0.36;0.37;1.84	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.441308	0.22038	N	0.065486	T	0.46502	0.1396	N	0.14661	0.345	0.29298	N	0.868872	D;P	0.54207	0.965;0.666	P;B	0.44811	0.461;0.13	T	0.46978	-0.9152	10	0.37606	T	0.19	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	31;31	F5GZU9;O43581	.;SYT7_HUMAN	N	31	ENSP00000263846:T31N;ENSP00000444201:T31N;ENSP00000439694:T31N;ENSP00000444568:T31N;ENSP00000444019:T31N;ENSP00000437720:T31N;ENSP00000443576:T31N	ENSP00000263846:T31N	T	-	2	0	0	SYT7	61080195	61080195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.544000	0.67231	2.460000	0.83146	0.591000	0.81541	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_004200			25	25		143	141	1		1	0		0	0	25	0		9.999999e-01	4.625418e-01	0	0	0	10	0	25	143
DAGLA	747	broad.mit.edu	37	11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	123					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612																																						ENST00000257215.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(367-369)Tac>Cac		diacylglycerol lipase, alpha							261.0	172.0	202.0					11																	61490390		2202	4299	6501	SO:0001583	missense	747	1	121412	27				g.chr11:61490390T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.367T>C	chr11.hg19:g.61490390T>C	ENSP00000257215:p.Tyr123His	0						p.Y123H	NM_006133.2	NP_006124.1	1	2	3	1.991067	Q9Y4D2	DGLA_HUMAN		4	483	+			A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	1	1	hg19	c.367T>C	CCDS31578.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252832	0.80135	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.27365	-1.0076	10	0.46703	T	0.11	-31.8586	15.0401	0.71785	0.0:0.0:0.0:1.0	.	123	Q9Y4D2	DGLA_HUMAN	H	123	ENSP00000257215:Y123H	ENSP00000257215:Y123H	Y	+	1	0	0	DAGLA	61246966	61246966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_006133			102	98		480	469	1		1	0		0	0	91	0		1	5.460438e-01	0	0	0	10	0	102	480
DAGLA	747	broad.mit.edu	37	11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	288					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632																																						ENST00000257215.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(862-864)cGc>cAc		diacylglycerol lipase, alpha							88.0	79.0	82.0					11																	61498802		2202	4299	6501	SO:0001583	missense	747	4	121412	36				g.chr11:61498802G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.863G>A	chr11.hg19:g.61498802G>A	ENSP00000257215:p.Arg288His	0						p.R288H	NM_006133.2	NP_006124.1	1	2	3	1.991067	Q9Y4D2	DGLA_HUMAN		9	979	+			A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	1	1	hg19	c.863G>A	CCDS31578.1	1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609647	0.46527	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.051766	0.85682	D	0.000000	T	0.18841	0.0452	N	0.14661	0.345	0.51767	D	0.999934	D	0.61080	0.989	P	0.45232	0.474	T	0.04840	-1.0923	10	0.15066	T	0.55	-31.8186	18.3022	0.90168	0.0:0.0:1.0:0.0	.	288	Q9Y4D2	DGLA_HUMAN	H	288	ENSP00000257215:R288H	ENSP00000257215:R288H	R	+	2	0	0	DAGLA	61255378	61255378	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.339000	0.72969	2.416000	0.81992	0.555000	0.69702	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.444178	1	0.170000	NM_006133			82	81		358	349	1		1	0		0	0	73	0		1	4.592269e-01	0	1	0	7	0	82	358
DAGLA	747	broad.mit.edu	37	11	61503244	61503244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61503244C>T	ENST00000257215.5	+	12	1362	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	416					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGATGCTGAGCGCCTCCCCGT	0.667																																						ENST00000257215.5	1.000000	0.190000	7.800000e-01	3.200000e-01	0.510000	0.551106	0.510000	1.000000																										0				43						c.(1246-1248)Cgc>Tgc		diacylglycerol lipase, alpha							47.0	42.0	44.0					11																	61503244		2201	4299	6500	SO:0001583	missense	747	2	121384	26				g.chr11:61503244C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1246C>T	chr11.hg19:g.61503244C>T	ENSP00000257215:p.Arg416Cys	0						p.R416C	NM_006133.2	NP_006124.1	1	2	3	1.991067	Q9Y4D2	DGLA_HUMAN		12	1362	+			A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	0	1	hg19	c.1246C>T	CCDS31578.1	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662092	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	3.86	3.86	0.44501	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.54805	T	0.06	-27.7272	16.3615	0.83270	0.0:1.0:0.0:0.0	.	416	Q9Y4D2	DGLA_HUMAN	C	416	ENSP00000257215:R416C	ENSP00000257215:R416C	R	+	1	0	0	DAGLA	61259820	61259820	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.453000	0.66645	2.157000	0.67596	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-7.915569	1	0.170000	NM_006133			5	5		120	117	0		1	0		0	0	22	0		9.347996e-01	2.279508e-02	0	0	0	5	0	5	120
DAGLA	747	broad.mit.edu	37	11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	612					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657																																						ENST00000257215.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1834-1836)cAc>cCc		diacylglycerol lipase, alpha							88.0	77.0	81.0					11																	61507115		2202	4299	6501	SO:0001583	missense	747	0	0					g.chr11:61507115A>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1835A>C	chr11.hg19:g.61507115A>C	ENSP00000257215:p.His612Pro	0						p.H612P	NM_006133.2	NP_006124.1	1	2	3	1.991067	Q9Y4D2	DGLA_HUMAN		17	1951	+			A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	1	1	hg19	c.1835A>C	CCDS31578.1	1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701586	0.68501	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.35847	-0.9772	10	0.42905	T	0.14	-33.9652	13.6453	0.62277	1.0:0.0:0.0:0.0	.	612	Q9Y4D2	DGLA_HUMAN	P	612	ENSP00000257215:H612P	ENSP00000257215:H612P	H	+	2	0	0	DAGLA	61263691	61263691	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.266000	0.95659	1.688000	0.51068	0.379000	0.24179	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-3.477420	1	0.170000	NM_006133			53	53		231	226	1		1	0		0	0	68	0		1	5.265519e-01	0	0	0	9	0	53	231
FADS1	3992	broad.mit.edu	37	11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS1_ENST00000541683.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	85					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512																																						ENST00000350997.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(424-426)atG>atT		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						135.0	144.0	141.0					11																	61580775		2089	4219	6308	SO:0001583	missense	3992	0	0					g.chr11:61580775C>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.426G>T	chr11.hg19:g.61580775C>A	ENSP00000322229:p.Met142Ile	0					FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_5'Flank	p.M142I	NM_013402.4	NP_037534.3	1	2	3	1.991067	O60427	FADS1_HUMAN		2	658	-			A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	0	1	hg19	c.426G>T	CCDS8011.2	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033804	0.75504	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;2.03;2.03;1.57;1.57;1.58;1.55;0.85;0.86;0.85	5.43	5.43	0.79202	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	T	0.80613	0.4656	L	0.56396	1.775	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.76798	-0.2826	9	0.72032	D	0.01	-10.6168	19.2379	0.93869	0.0:1.0:0.0:0.0	.	85	O60427	FADS1_HUMAN	I	142;1;1;1;1;1;1;1;1;1;1;1;1;1	ENSP00000322229:M142I;ENSP00000405087:M1I;ENSP00000441403:M1I;ENSP00000441871:M1I;ENSP00000442170:M1I;ENSP00000440652:M1I;ENSP00000416043:M1I;ENSP00000443037:M1I;ENSP00000446270:M1I;ENSP00000439790:M1I	ENSP00000322229:M142I	M	-	3	0	0	FADS1	61337351	61337351	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.037000	0.64170	2.716000	0.92895	0.655000	0.94253	ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	1	0	1		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000	NM_013402			146	143		645	630	1		1	1		0	0	160	0		1	9.999006e-01	0	9	0	51	0	146	645
FADS3	3995	broad.mit.edu	37	11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000278829.2	-	8	1132	c.980T>A	c.(979-981)gTc>gAc	p.V327D	FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000540820.1_Missense_Mutation_p.V327D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	327					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612																																						ENST00000278829.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999699	0.990000	1.000000																										0				15						c.(979-981)gTc>gAc		fatty acid desaturase 3							73.0	64.0	67.0					11																	61644341		2194	4296	6490	SO:0001583	missense	3995	0	0					g.chr11:61644341A>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.980T>A	chr11.hg19:g.61644341A>T	ENSP00000278829:p.Val327Asp	0					FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000540820.1_Missense_Mutation_p.V327D|FADS3_ENST00000527697.1_Missense_Mutation_p.V203D	p.V327D	NM_021727.3	NP_068373.1	1	2	3	1.991067	Q9Y5Q0	FADS3_HUMAN		8	1132	-			O60426	Missense_Mutation	SNP	ENST00000278829.2	1	1	hg19	c.980T>A	CCDS8013.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	26.2|26.2|26.2	4.713735|4.713735|4.713735	0.89112|0.89112|0.89112	.|.|.	.|.|.	ENSG00000221968|ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527379|ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588	.|.|T;T;T;T	.|.|0.73469	.|.|-0.75;-0.75;-0.75;-0.75	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Fatty acid desaturase, type 1 (1);	.|.|.	.|.|.	.|.|.	.|.|.	.|D|D	.|0.88265|0.88265	.|0.6390|0.6390	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59357	.|.|0.915;0.985	.|.|D;D	.|.|0.69142	.|.|0.936;0.962	.|D|D	.|0.89161|0.89161	.|0.3530|0.3530	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	12.8165|12.8165|12.8165	0.57669|0.57669|0.57669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|203;327	.|.|E9PKP8;Q9Y5Q0	.|.|.;FADS3_HUMAN	X|T|D	1|102|203;327;327;299	.|.|ENSP00000431533:V203D;ENSP00000278829:V327D;ENSP00000439308:V327D;ENSP00000432206:V299D	.|.|ENSP00000278829:V327D	C|S|V	-|-|-	3|1|2	2|0|0	2|0|0	FADS3|FADS3|FADS3	61400917|61400917|61400917	61400917|61400917|61400917	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.444000|7.444000|7.444000	0.80532|0.80532|0.80532	2.046000|2.046000|2.046000	0.60703|0.60703|0.60703	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	TGT|TCA|GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000				14	13		55	54	1		1	1		0	0	16	0		9.998271e-01	9.999987e-01	0	36	0	85	0	14	55
FADS3	3995	broad.mit.edu	37	11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000278829.2	-	6	948	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H|FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	266					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602																																						ENST00000278829.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(796-798)Tac>Cac		fatty acid desaturase 3							257.0	215.0	229.0					11																	61645639		2202	4299	6501	SO:0001583	missense	3995	0	0					g.chr11:61645639A>G		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.796T>C	chr11.hg19:g.61645639A>G	ENSP00000278829:p.Tyr266His	0					FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H|FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H	p.Y266H	NM_021727.3	NP_068373.1	1	2	3	1.991067	Q9Y5Q0	FADS3_HUMAN		6	948	-			O60426	Missense_Mutation	SNP	ENST00000278829.2	1	1	hg19	c.796T>C	CCDS8013.1	1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058693	0.76074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.35	4.18	0.49190	5.35	4.18	0.49190	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.87063	0.6084	H	0.94847	3.59	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89775	0.3957	9	0.87932	D	0	-10.4061	11.4256	0.50009	0.8493:0.1507:0.0:0.0	.	142;266	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	H	142;266;266;238;142;142	ENSP00000431533:Y142H;ENSP00000278829:Y266H;ENSP00000439308:Y266H;ENSP00000432206:Y238H;ENSP00000436890:Y142H;ENSP00000434551:Y142H	ENSP00000278829:Y266H	Y	-	1	0	0	FADS3	61402215	61402215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.041000	0.60428	0.533000	0.62120	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000				123	121		580	571	1		1	1		0	0	123	0		1	1	0	28	0	88	0	123	580
FADS3	3995	broad.mit.edu	37	11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T	rs542548263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000278829.2	-	5	870	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	240					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAGGAAGACGGGCGCCACC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17653	0.0		0.0	False		,,,				2504	0.0					ENST00000278829.2	1.000000	0.290000	6.300000e-01	3.800000e-01	0.490000	0.516990	0.490000	0.470000																										0				15						c.(718-720)Gtc>Atc		fatty acid desaturase 3							109.0	104.0	106.0					11																	61646013		2202	4299	6501	SO:0001583	missense	3995	2	121408	27				g.chr11:61646013C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.718G>A	chr11.hg19:g.61646013C>T	ENSP00000278829:p.Val240Ile	0					FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I|FADS3_ENST00000527697.1_Missense_Mutation_p.V116I	p.V240I	NM_021727.3	NP_068373.1	1	2	3	1.991067	Q9Y5Q0	FADS3_HUMAN		5	870	-			O60426	Missense_Mutation	SNP	ENST00000278829.2	1	1	hg19	c.718G>A	CCDS8013.1	0	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436452	0.12104	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.51	2.62	0.31277	4.51	2.62	0.31277	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.28928	0.0718	N	0.16307	0.4	0.32096	N	0.59122	B;B	0.12013	0.0;0.005	B;B	0.15870	0.005;0.014	T	0.26677	-1.0096	9	0.27785	T	0.31	-8.0686	8.2672	0.31821	0.1553:0.7602:0.0:0.0845	.	116;240	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	116;240;240;212;116;116	ENSP00000431533:V116I;ENSP00000278829:V240I;ENSP00000439308:V240I;ENSP00000432206:V212I;ENSP00000436890:V116I;ENSP00000434551:V116I	ENSP00000278829:V240I	V	-	1	0	0	FADS3	61402589	61402589	0.000000	0.05858	0.828000	0.32881	0.090000	0.18270	-2.451000	0.01006	0.453000	0.26858	-0.268000	0.10319	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	0	0	1		16	6	2	1		1	1	96		96	94	1	2.060000	-4.231617	1	0.170000				18	16		426	422	1		1	1		1	0	96	0		6.831181e-01	3.253220e-01	0	15	0	94	0	18	426
BEST1	7439	broad.mit.edu	37	11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000378043.4	+	9	1644	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	334					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587																																						ENST00000378043.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.987100	0.990000	1.000000																										0				25						c.(1000-1002)cCg>cTg		bestrophin 1		C	LEU/PRO,LEU/PRO	0,4404		0,0,2202	69.0	59.0	62.0		821,1001	0.8	0.8	11	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BEST1	NM_001139443.1,NM_004183.3	98,98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	274/605,334/586	61727416	1,13001	2202	4299	6501	SO:0001583	missense	7439	7	121410	35				g.chr11:61727416C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1001C>T	chr11.hg19:g.61727416C>T	ENSP00000367282:p.Pro334Leu	0					BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L	p.P334L	NM_004183.3	NP_004174.1	1	2	3	1.991067	O76090	BEST1_HUMAN		9	1644	+			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	1	1	hg19	c.1001C>T	CCDS31580.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926903|2.926903	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167995|ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131|ENST00000526988	D;D;D|D	0.96802|0.99158	-4.13;-3.81;-4.08|-5.5	5.02|5.02	0.81|0.81	0.18732|0.18732	5.02|5.02	0.81|0.81	0.18732|0.18732	.|.	0.563498|.	0.18960|.	N|.	0.126429|.	D|D	0.95717|0.95717	0.8607|0.8607	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|D;D	0.31227|0.69078	0.314;0.13;0.314|0.997;0.997	B;B;B|P;P	0.21360|0.49637	0.024;0.011;0.034|0.617;0.617	D|D	0.92229|0.92229	0.5791|0.5791	10|9	0.87932|0.66056	D|D	0|0.02	-11.183|-11.183	5.1413|5.1413	0.14961|0.14961	0.4175:0.1753:0.4072:0.0|0.4175:0.1753:0.4072:0.0	.|.	247;334;274|296;342	O76090-4;O76090;O76090-3|B7Z1N8;B7Z336	.;BEST1_HUMAN;.|.;.	L|W	334;247;274|296	ENSP00000367282:P334L;ENSP00000367281:P247L;ENSP00000399709:P274L|ENSP00000433195:R296W	ENSP00000367281:P247L|ENSP00000432681:R402W	P|R	+|+	2|1	0|2	0|2	BEST1|BEST1	61483992|61483992	61483992|61483992	1.000000|1.000000	0.71417|0.71417	0.755000|0.755000	0.31263|0.31263	0.223000|0.223000	0.24884|0.24884	2.021000|2.021000	0.41020|0.41020	0.204000|0.204000	0.20548|0.20548	-0.300000|-0.300000	0.09419|0.09419	CCG|CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-19.999420	1	0.170000	NM_004183			15	15		115	115	1		1	0		0	0	26	0		9.999052e-01	3.450528e-01	0	0	0	10	0	15	115
BEST1	7439	broad.mit.edu	37	11	61730290	61730290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61730290C>A	ENST00000378043.4	+	10	2307	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P495H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	555					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAAAGAACCTTTGGAACAA	0.478																																						ENST00000378043.4	1.000000	0.170000	4.700000e-01	2.400000e-01	0.340000	0.376948	0.340000	0.330000																										0				25						c.(1663-1665)cCt>cAt		bestrophin 1							144.0	154.0	151.0					11																	61730290		2202	4299	6501	SO:0001583	missense	7439	0	0					g.chr11:61730290C>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1664C>A	chr11.hg19:g.61730290C>A	ENSP00000367282:p.Pro555His	0					BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P495H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H	p.P555H	NM_004183.3	NP_004174.1	1	2	3	1.991067	O76090	BEST1_HUMAN		10	2307	+			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	0	1	hg19	c.1664C>A	CCDS31580.1	0	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076004	0.20227	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.96992	-4.19;-3.98;-0.15;-4.2	3.97	0.871	0.19107	3.97	0.871	0.19107	.	2.113420	0.02237	N	0.065424	D	0.92166	0.7516	L	0.27053	0.805	0.20074	N	0.999932	B;B;B	0.20261	0.011;0.006;0.043	B;B;B	0.18871	0.012;0.005;0.023	T	0.83072	-0.0142	10	0.42905	T	0.14	-0.0463	4.6544	0.12610	0.1568:0.6:0.1525:0.0907	.	468;555;495	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	H	555;468;183;495	ENSP00000367282:P555H;ENSP00000367281:P468H;ENSP00000301774:P183H;ENSP00000399709:P495H	ENSP00000301774:P183H	P	+	2	0	0	BEST1	61486866	61486866	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.617000	0.24359	0.373000	0.24621	0.561000	0.74099	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.264894	1	0.170000	NM_004183			10	8		352	343	0		1	0		0	0	68	0		9.964693e-01	8.617898e-02	0	0	0	16	0	10	352
INCENP	3619	broad.mit.edu	37	11	61908436	61908436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61908436C>A	ENST00000394818.3	+	10	1715	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	505					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACCAGATGCTCATGACCCC	0.632																																						ENST00000394818.3	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.374214	0.330000	0.310000																										0				19						c.(1513-1515)Ctc>Atc		inner centromere protein antigens 135/155kDa							79.0	78.0	78.0					11																	61908436		2202	4299	6501	SO:0001583	missense	3619	0	0					g.chr11:61908436C>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1513C>A	chr11.hg19:g.61908436C>A	ENSP00000378295:p.Leu505Ile	0					INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	p.L505I	NM_001040694.1	NP_001035784.1	1	2	3	1.991067	Q9NQS7	INCE_HUMAN		10	1715	+			A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	0	1	hg19	c.1513C>A	CCDS44624.1	0	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140644	0.77775	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.48836	0.8;0.8	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.47093	D	0.000253	T	0.68393	0.2996	M	0.71581	2.175	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	T	0.69312	-0.5178	10	0.52906	T	0.07	.	16.8154	0.85733	0.0:1.0:0.0:0.0	.	505;505;505	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	I	505	ENSP00000378295:L505I;ENSP00000278849:L505I	ENSP00000278849:L505I	L	+	1	0	0	INCENP	61665012	61665012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.641000	0.74324	2.573000	0.86826	0.655000	0.94253	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-10.032830	1	0.170000	NM_020238			10	10		355	350	0		1	1		0	0	85	0		9.967594e-01	4.972965e-01	0	2	0	55	0	10	355
INCENP	3619	broad.mit.edu	37	11	61917621	61917621	+	Silent	SNP	C	C	T	rs564081482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	828					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.002					ENST00000394818.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2482-2484)agC>agT		inner centromere protein antigens 135/155kDa							96.0	84.0	88.0					11																	61917621		2202	4299	6501	SO:0001819	synonymous_variant	3619	3	121412	34				g.chr11:61917621C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2484C>T	chr11.hg19:g.61917621C>T		0					INCENP_ENST00000278849.4_Silent_p.S824S	p.S828S	NM_001040694.1	NP_001035784.1	1	2	3	1.991067	Q9NQS7	INCE_HUMAN		18	2686	+			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	1	1	hg19	c.2484C>T	CCDS44624.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_020238			82	78		363	360	1		1	1		0	0	102	0		1	9.998200e-01	0	11	0	47	0	82	363
INCENP	3619	broad.mit.edu	37	11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	904					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607																																						ENST00000394818.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(2710-2712)gGc>gAc		inner centromere protein antigens 135/155kDa							35.0	37.0	36.0					11																	61919402		2202	4299	6501	SO:0001583	missense	3619	0	0					g.chr11:61919402G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2711G>A	chr11.hg19:g.61919402G>A	ENSP00000378295:p.Gly904Asp	0					INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	p.G904D	NM_001040694.1	NP_001035784.1	1	2	3	1.991067	Q9NQS7	INCE_HUMAN		19	2913	+			A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	1	1	hg19	c.2711G>A	CCDS44624.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349411	0.41599	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15718	2.46;2.4	5.66	0.169	0.15017	5.66	0.169	0.15017	.	0.256920	0.27558	N	0.018829	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.141	0.20259	0.0733:0.3729:0.4324:0.1213	.	900;904	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	D	904;900	ENSP00000378295:G904D;ENSP00000278849:G900D	ENSP00000278849:G900D	G	+	2	0	0	INCENP	61675978	61675978	0.991000	0.36638	0.069000	0.20011	0.248000	0.25809	2.172000	0.42463	0.016000	0.14998	0.462000	0.41574	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_020238			44	42		237	233	1		1	1		0	0	57	0		1	9.862626e-01	0	13	0	26	0	44	237
SCGB2A1	4246	broad.mit.edu	37	11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	36					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0					ENST00000244930.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(106-108)Gac>Aac		secretoglobin, family 2A, member 1		G	ASN/ASP	11,4393	17.9+/-39.9	0,11,2191	103.0	109.0	107.0		106	-7.1	0.0	11	dbSNP_134	107	0,8598		0,0,4299	yes	missense	SCGB2A1	NM_002407.2	23	0,11,6490	AA,AG,GG		0.0,0.2498,0.0846	benign	36/96	61977935	11,12991	2202	4299	6501	SO:0001583	missense	4246	41	121412	49				g.chr11:61977935G>A	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.106G>A	chr11.hg19:g.61977935G>A	ENSP00000244930:p.Asp36Asn	0					RP11-703H8.9_ENST00000529875.1_RNA	p.D36N	NM_002407.2	NP_002398.1	1	2	3	1.991067	O75556	SG2A1_HUMAN		2	170	+				Missense_Mutation	SNP	ENST00000244930.4	1	1	hg19	c.106G>A	CCDS8016.1	1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895658	0.17686	0.002498	0.0	ENSG00000124939	ENST00000244930	T	0.39997	1.05	3.54	-7.08	0.01558	3.54	-7.08	0.01558	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.36534	0.227	T	0.06552	-1.0820	8	0.19147	T	0.46	.	1.3238	0.02121	0.1647:0.3311:0.2854:0.2188	.	36	O75556	SG2A1_HUMAN	N	36	ENSP00000244930:D36N	ENSP00000244930:D36N	D	+	1	0	0	SCGB2A1	61734511	61734511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-3.616000	0.00131	-0.315000	0.08773	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	0	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-5.647259	1	0.170000	NM_002407			94	91		511	496	1		1	1		0	0	109	0		1	9.991152e-01	0	2	0	56	0	94	511
SCGB1D4	404552	broad.mit.edu	37	11	62064997	62064997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	63						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428																																						ENST00000358585.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(187-189)aaG>aaA		secretoglobin, family 1D, member 4							219.0	232.0	227.0					11																	62064997		2202	4299	6501	SO:0001819	synonymous_variant	404552	0	0					g.chr11:62064997C>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.189G>A	chr11.hg19:g.62064997C>T		0						p.K63K	NM_206998.1	NP_996881.1	1	2	3	1.991067	Q6XE38	SG1D4_HUMAN		2	242	-			A1L4Q8	Silent	SNP	ENST00000358585.1	1	1	hg19	c.189G>A	CCDS31583.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	1	0	1		2	2	2	0		0	0	289		289	288	1	2.060000	-20.000000	1	0.170000	NM_206998			277	275		1153	1135	0		1			0	0	289	0		1	0	0	0	0	0	0	277	1153
AHNAK	79026	broad.mit.edu	37	11	62284885	62284885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5668					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)			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)				CACGGCCAGAGAAGGTAAATT	0.532																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(17002-17004)ttC>ttT		AHNAK nucleoprotein							52.0	53.0	52.0					11																	62284885		2202	4299	6501	SO:0001819	synonymous_variant	79026	0	0					g.chr11:62284885G>A	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.17004C>T	chr11.hg19:g.62284885G>A		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	p.F5668F	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	17278	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.17004C>T	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_024060			75	73		266	263	0		1	1		0	0	78	0		1	1	0	364	0	1207	0	75	266
AHNAK	79026	broad.mit.edu	37	11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5613	Gly-rich.				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)			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)				GCCCCCAGCAAACTTAGATGT	0.542																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(16837-16839)tTt>tGt		AHNAK nucleoprotein							117.0	133.0	127.0					11																	62285051		2199	4297	6496	SO:0001583	missense	79026	0	0					g.chr11:62285051A>C	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.16838T>G	chr11.hg19:g.62285051A>C	ENSP00000367263:p.Phe5613Cys	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	p.F5613C	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	17112	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.16838T>G	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329771	0.24167	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.85	3.73	0.42828	4.85	3.73	0.42828	.	0.956702	0.08511	U	0.934902	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.60789	0.879	T	0.57470	-0.7806	10	0.41790	T	0.15	0.0	8.3362	0.32217	0.9051:0.0:0.0949:0.0	.	5613	Q09666	AHNK_HUMAN	C	5613	ENSP00000367263:F5613C	ENSP00000367263:F5613C	F	-	2	0	0	AHNAK	62041627	62041627	0.127000	0.22367	0.001000	0.08648	0.394000	0.30568	5.271000	0.65553	0.709000	0.31976	0.519000	0.50382	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	205		205	203	1	2.060000	-20.000000	1	0.170000	NM_024060			199	194		767	755	1		1	1		0	0	205	0		1	1	0	314	0	1172	0	199	767
AHNAK	79026	broad.mit.edu	37	11	62285755	62285755	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5378					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)			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)				ATTTGATGTCACCAGAGACAG	0.512																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(16132-16134)ggT>ggC		AHNAK nucleoprotein							102.0	83.0	89.0					11																	62285755		2202	4299	6501	SO:0001819	synonymous_variant	79026	0	0					g.chr11:62285755A>G	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.16134T>C	chr11.hg19:g.62285755A>G		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	p.G5378G	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	16408	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.16134T>C	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_024060			78	77		386	374	1		1	1		0	0	69	0		1	1	0	276	0	970	0	78	386
AHNAK	79026	broad.mit.edu	37	11	62285818	62285818	+	Silent	SNP	G	G	A	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5357					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)			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)				GTGCCCCAACGTTAAGCTTTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19724	0.0		0.0	False		,,,				2504	0.001					ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(16069-16071)aaC>aaT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	122.0	93.0	103.0		16071,	-5.0	0.0	11	dbSNP_134	103	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	5357/5891,	62285818	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026	20	121412	45				g.chr11:62285818G>A	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.16071C>T	chr11.hg19:g.62285818G>A		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	p.N5357N	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	16345	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.16071C>T	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-3.902966	1	0.170000	NM_024060			82	80		364	350	1		1	1		0	0	92	0		1	1	0	253	0	1127	0	82	364
AHNAK	79026	broad.mit.edu	37	11	62286943	62286943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4982					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)			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)				TTTTTGCCCCAAATCCAAACT	0.448																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(14944-14946)ttT>ttC		AHNAK nucleoprotein							79.0	85.0	83.0					11																	62286943		2202	4299	6501	SO:0001819	synonymous_variant	79026	0	0					g.chr11:62286943A>G	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.14946T>C	chr11.hg19:g.62286943A>G		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	p.F4982F	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	15220	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.14946T>C	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_024060			108	107		492	484	1		1	1		0	0	88	0		1	1	0	187	0	522	0	108	492
AHNAK	79026	broad.mit.edu	37	11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4652					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)			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)				TCACTTTGGGCATTTTTAGGT	0.537																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(13954-13956)atG>atA		AHNAK nucleoprotein							211.0	215.0	214.0					11																	62287933		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62287933C>T	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.13956G>A	chr11.hg19:g.62287933C>T	ENSP00000367263:p.Met4652Ile	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M4652I	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	14230	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.13956G>A	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797458	0.31777	.	.	ENSG00000124942	ENST00000378024	T	0.01918	4.56	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.89534	3.04	0.39705	D	0.971245	D	0.56521	0.976	D	0.73380	0.98	T	0.12372	-1.0550	10	0.25751	T	0.34	-32.4759	18.5463	0.91047	0.0:1.0:0.0:0.0	.	4652	Q09666	AHNK_HUMAN	I	4652	ENSP00000367263:M4652I	ENSP00000367263:M4652I	M	-	3	0	0	AHNAK	62044509	62044509	0.998000	0.40836	1.000000	0.80357	0.275000	0.26752	1.013000	0.29937	2.468000	0.83385	0.543000	0.68304	ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	396		396	398	1	2.060000	-20.000000	1	0.170000	NM_024060			250	242		1301	1264	1		1	1		0	0	396	0		1	1	0	108	0	503	0	250	1301
AHNAK	79026	broad.mit.edu	37	11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3654					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)			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)				GGGCCCTTCAGCTTTGCATCT	0.473																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(10960-10962)Ctg>Atg		AHNAK nucleoprotein							208.0	214.0	212.0					11																	62290929		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62290929G>T	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.10960C>A	chr11.hg19:g.62290929G>T	ENSP00000367263:p.Leu3654Met	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3654M	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	11234	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.10960C>A	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760746	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.16	0.884	0.19182	5.16	0.884	0.19182	.	1.419600	0.05322	N	0.526753	T	0.03305	0.0096	M	0.88775	2.98	0.20403	N	0.99991	P	0.37663	0.604	B	0.36134	0.218	T	0.43861	-0.9365	10	0.38643	T	0.18	-6.531	2.8861	0.05661	0.2244:0.1249:0.5235:0.1273	.	3654	Q09666	AHNK_HUMAN	M	3654	ENSP00000367263:L3654M	ENSP00000367263:L3654M	L	-	1	2	2	AHNAK	62047505	62047505	0.000000	0.05858	0.287000	0.24848	0.643000	0.38383	-2.341000	0.01100	0.482000	0.27582	0.579000	0.79373	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1		2	2	2	0		0	0	351		351	344	1	2.060000	-20.000000	1	0.170000	NM_024060			301	297		1202	1181	1		1	1		0	0	351	0		1	1	0	134	0	628	0	301	1202
AHNAK	79026	broad.mit.edu	37	11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					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)			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)				TCCACATTGAGATCTGGGCCC	0.478																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(10549-10551)Ctc>Atc		AHNAK nucleoprotein							103.0	107.0	106.0					11																	62291340		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62291340G>T	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.10549C>A	chr11.hg19:g.62291340G>T	ENSP00000367263:p.Leu3517Ile	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3517I	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	10823	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.10549C>A	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.538701	0.00942	.	.	ENSG00000124942	ENST00000378024	T	0.00642	6.02	4.81	-9.61	0.00550	4.81	-9.61	0.00550	.	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.49184	-0.8966	9	0.15499	T	0.54	.	13.4681	0.61268	0.0:0.5675:0.2339:0.1986	.	3517	Q09666	AHNK_HUMAN	I	3517	ENSP00000367263:L3517I	ENSP00000367263:L3517I	L	-	1	0	0	AHNAK	62047916	62047916	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-3.861000	0.00348	-2.639000	0.00430	0.447000	0.29281	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1		2	2	2	0		0	0	138		138	135	1	2.060000	-20.000000	1	0.170000	NM_024060			165	163		570	559	1		1	1		0	0	138	0		1	1	0	114	0	414	0	165	570
AHNAK	79026	broad.mit.edu	37	11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3332					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)			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)				TCCACTTCTGGGCCCTTTATA	0.418																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(9994-9996)Cca>Aca		AHNAK nucleoprotein							52.0	49.0	50.0					11																	62291895		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62291895G>T	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.9994C>A	chr11.hg19:g.62291895G>T	ENSP00000367263:p.Pro3332Thr	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3332T	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	10268	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.9994C>A	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734589	0.30774	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.37	4.37	0.52481	4.37	4.37	0.52481	.	.	.	.	.	T	0.37265	0.0997	H	0.96720	3.87	0.30628	N	0.757809	D	0.89917	1.0	D	0.85130	0.997	T	0.56038	-0.8045	9	0.66056	D	0.02	.	12.4383	0.55612	0.0:0.1695:0.8305:0.0	.	3332	Q09666	AHNK_HUMAN	T	3332	ENSP00000367263:P3332T	ENSP00000367263:P3332T	P	-	1	0	0	AHNAK	62048471	62048471	1.000000	0.71417	0.983000	0.44433	0.383000	0.30230	7.257000	0.78362	1.975000	0.57531	0.305000	0.20034	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_024060			55	55		197	193	1		1	1		0	0	59	0		1	1	0	108	0	422	0	55	197
AHNAK	79026	broad.mit.edu	37	11	62293900	62293900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2663					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)			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)				TGTCAGCCTTGGGCAGCTTCA	0.512																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(7987-7989)ccC>ccT		AHNAK nucleoprotein							175.0	176.0	176.0					11																	62293900		2202	4299	6501	SO:0001819	synonymous_variant	79026	0	0					g.chr11:62293900G>A	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.7989C>T	chr11.hg19:g.62293900G>A		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2663P	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	8263	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.7989C>T	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	273		273	270	1	2.060000	-2.948185	1	0.170000	NM_024060			236	231		1056	1020	1		1	1		0	0	273	0		1	1	0	71	0	363	0	236	1056
AHNAK	79026	broad.mit.edu	37	11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2028					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)			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)				GTCCATTTTGGGTCCTTTGAT	0.493																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(6082-6084)cCc>cTc		AHNAK nucleoprotein							341.0	333.0	336.0					11																	62295806		2202	4299	6501	SO:0001583	missense	79026	1	121412	36				g.chr11:62295806G>A	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.6083C>T	chr11.hg19:g.62295806G>A	ENSP00000367263:p.Pro2028Leu	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2028L	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	6357	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.6083C>T	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898950	0.17686	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.34555	U	0.003875	T	0.40247	0.1109	H	0.97940	4.11	0.45087	D	0.9981	D	0.76494	0.999	D	0.76575	0.988	T	0.65676	-0.6110	10	0.87932	D	0	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2028	Q09666	AHNK_HUMAN	L	117;2028	ENSP00000367263:P2028L	ENSP00000244934:P117L	P	-	2	0	0	AHNAK	62052382	62052382	.	.	0.153000	0.22517	0.340000	0.28889	.	.	1.723000	0.51488	0.298000	0.19748	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1		24	6	2	1		1	1	442		442	440	1	2.060000	-20.000000	1	0.170000	NM_024060			389	380		1822	1783	1		1	1		1	0	442	0		1	1	0	52	0	230	0	389	1822
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	C	T	rs601430	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	ENST00000378024.4	-	5	6103	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1943					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.S1943S(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)				ATTTTGGCACCGACACATCCA	0.512													A|||	3	0.000599042	0.0	0.0	5008	,	,		21526	0.0		0.0	False		,,,				2504	0.0031					ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S1943S(1)	urinary_tract(1)	268						c.(5827-5829)tcG>tcA		AHNAK nucleoprotein							214.0	223.0	220.0					11																	62296060		2202	4299	6501	SO:0001819	synonymous_variant	79026	52	121410	52				g.chr11:62296060C>T	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.5829G>A	chr11.hg19:g.62296060C>T		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S1943S	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	6103	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	0	hg19	c.5829G>A	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	323		323	320	1	2.060000	-2.479517	0	0.170000	NM_024060			313	304		1280	1235	1		1	1		0	0	323	0		1	1	0	25	0	188	0	313	1280
AHNAK	79026	broad.mit.edu	37	11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	949					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)			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)				GTCCACATCAGGCATGGAGAT	0.463																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(2845-2847)cCt>cAt		AHNAK nucleoprotein							154.0	165.0	161.0					11																	62299043		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62299043G>T	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.2846C>A	chr11.hg19:g.62299043G>T	ENSP00000367263:p.Pro949His	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P949H	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	3120	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.2846C>A	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821686	0.71028	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.133316	0.51477	D	0.000095	T	0.39279	0.1072	H	0.96015	3.755	0.41368	D	0.987472	D	0.89917	1.0	D	0.87578	0.998	T	0.60596	-0.7232	10	0.72032	D	0.01	-5.9758	17.7797	0.88520	0.0:0.0:1.0:0.0	.	949	Q09666	AHNK_HUMAN	H	949	ENSP00000367263:P949H	ENSP00000367263:P949H	P	-	2	0	0	AHNAK	62055619	62055619	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.298000	0.78815	2.358000	0.79984	0.455000	0.32223	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	0		16	2	2	0		0	1	266		266	265	1	2.060000	-20.000000	1	0.170000	NM_024060			179	173		1015	990	1		1	1		0	0	266	0		1	1	0	42	0	152	0	179	1015
AHNAK	79026	broad.mit.edu	37	11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	929					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)			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)				GGGGCCCTTCAGCTTTCCTTC	0.488																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(2785-2787)cTg>cCg		AHNAK nucleoprotein							132.0	144.0	140.0					11																	62299103		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62299103A>G	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.2786T>C	chr11.hg19:g.62299103A>G	ENSP00000367263:p.Leu929Pro	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L929P	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	3060	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.2786T>C	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.945953	0.53079	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.427685	0.20173	N	0.097700	T	0.07052	0.0179	M	0.89601	3.045	0.32021	N	0.600752	D	0.89917	1.0	D	0.91635	0.999	T	0.07385	-1.0775	10	0.33940	T	0.23	-6.898	14.2733	0.66164	1.0:0.0:0.0:0.0	.	929	Q09666	AHNK_HUMAN	P	929	ENSP00000367263:L929P	ENSP00000367263:L929P	L	-	2	0	0	AHNAK	62055679	62055679	0.042000	0.20092	0.955000	0.39395	0.913000	0.54294	3.328000	0.52052	1.910000	0.55303	0.374000	0.22700	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	0		16	2	2	0		0	1	257		257	255	1	2.060000	-20.000000	1	0.170000	NM_024060			183	178		985	961	1		1	1		0	0	257	0		1	1	0	49	0	209	0	183	985
AHNAK	79026	broad.mit.edu	37	11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	789					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)			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)				CACATCAGGAGCAGTAACATC	0.493																																						ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				268						c.(2365-2367)gCt>gTt		AHNAK nucleoprotein							139.0	144.0	142.0					11																	62299523		2202	4299	6501	SO:0001583	missense	79026	0	0					g.chr11:62299523G>A	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.2366C>T	chr11.hg19:g.62299523G>A	ENSP00000367263:p.Ala789Val	0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.A789V	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	2640	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.2366C>T	CCDS31584.1	1	.	.	.	.	.	.	.	.	.	.	G	0.357	-0.941407	0.02322	.	.	ENSG00000124942	ENST00000378024	T	0.01015	5.44	5.46	0.183	0.15082	5.46	0.183	0.15082	.	0.227351	0.25774	N	0.028383	T	0.00724	0.0024	N	0.16602	0.42	0.21950	N	0.999455	B	0.10296	0.003	B	0.19148	0.024	T	0.47812	-0.9088	10	0.30078	T	0.28	-5.7553	8.5539	0.33469	0.196:0.2085:0.5955:0.0	.	789	Q09666	AHNK_HUMAN	V	789	ENSP00000367263:A789V	ENSP00000367263:A789V	A	-	2	0	0	AHNAK	62056099	62056099	0.000000	0.05858	0.525000	0.27900	0.053000	0.15095	-1.663000	0.01968	-0.209000	0.10156	-1.360000	0.01215	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	232		232	229	1	2.060000	-20.000000	1	0.170000	NM_024060			178	175		823	813	1		1	1		0	0	232	0		1	1	0	53	0	222	0	178	823
AHNAK	79026	broad.mit.edu	37	11	62301544	62301544	+	Silent	SNP	G	G	A	rs117532364	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					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)			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)				CATCATCCCCGCTCTGCAGAA	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		14519	0.001		0.001	False		,,,				2504	0.0					ENST00000378024.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				268						c.(343-345)agC>agT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	42.0	37.0	38.0		345,	4.0	1.0	11	dbSNP_132	38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	115/5891,	62301544	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026	7	118178	37				g.chr11:62301544G>A	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.345C>T	chr11.hg19:g.62301544G>A		0					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S115S	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		5	619	-		Melanoma(852;0.155)	A1A586	Silent	SNP	ENST00000378024.4	1	1	hg19	c.345C>T	CCDS31584.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.311805	1	0.170000	NM_024060			30	30		163	159	1		1	1		0	0	35	0		1	9.999999e-01	0	33	0	118	0	30	163
AHNAK	79026	broad.mit.edu	37	11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H|RP11-864I4.3_ENST00000544108.1_RNA	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	45	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)			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)				CACCCCAGTGCGGGCCGCAGG	0.682																																						ENST00000378024.4	1.000000	0.330000	7.400000e-01	4.300000e-01	0.570000	0.595754	0.570000	0.550000																										0				268						c.(133-135)cGc>cAc		AHNAK nucleoprotein							50.0	48.0	49.0					11																	62303437		2202	4299	6501	SO:0001583	missense	79026	1	121408	30				g.chr11:62303437C>T	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.134G>A	chr11.hg19:g.62303437C>T	ENSP00000367263:p.Arg45His	0					RP11-864I4.3_ENST00000544108.1_RNA|AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H	p.R45H	NM_001620.1	NP_001611.1	1	2	3	1.991067	Q09666	AHNK_HUMAN		3	408	-		Melanoma(852;0.155)	A1A586	Missense_Mutation	SNP	ENST00000378024.4	1	1	hg19	c.134G>A	CCDS31584.1	0	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076164	0.55646	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.50548	1.51;1.51;1.51;0.74;1.51;1.51;1.51	5.36	5.36	0.76844	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.111128	0.36303	U	0.002664	T	0.25082	0.0609	N	0.03608	-0.345	0.25316	N	0.989154	P;P	0.47545	0.887;0.897	B;B	0.42422	0.179;0.387	T	0.10800	-1.0614	10	0.54805	T	0.06	-8.3012	8.3138	0.32088	0.0:0.8318:0.0:0.1682	.	45;45	Q09666;A1A586	AHNK_HUMAN;.	H	45	ENSP00000433789:R45H;ENSP00000257247:R45H;ENSP00000433635:R45H;ENSP00000367263:R45H;ENSP00000433286:R45H;ENSP00000435357:R45H;ENSP00000436845:R45H	ENSP00000257247:R45H	R	-	2	0	0	AHNAK	62060013	62060013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.672000	0.46850	2.512000	0.84698	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1		2	2	2	0		0	0	50		50	47	1	2.060000	-3.147641	1	0.170000	NM_024060			15	12		304	297	0		1	1		0	0	50	0		9.998489e-01	9.984313e-01	0	10	0	208	0	15	304
EEF1G	1937	broad.mit.edu	37	11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000329251.4	-	9	1188	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	353	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517																																						ENST00000329251.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1057-1059)aGg>aTg		eukaryotic translation elongation factor 1 gamma							49.0	47.0	48.0					11																	62327638		1952	4156	6108	SO:0001583	missense	1937	0	0					g.chr11:62327638C>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1058G>T	chr11.hg19:g.62327638C>A	ENSP00000331901:p.Arg353Met	0					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M	p.R353M	NM_001404.4	NP_001395.1	1	2	3	1.991067	P26641	EF1G_HUMAN		9	1188	-			B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	1	1	hg19	c.1058G>T	CCDS44626.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461627	0.84425	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.29142	1.62;1.58	4.67	4.67	0.58626	4.67	4.67	0.58626	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95645	3.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.993	D;D;D	0.73708	0.981;0.961;0.979	T	0.77890	-0.2419	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	403;122;353	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	M	353;403;122	ENSP00000331901:R353M;ENSP00000367258:R403M	ENSP00000331901:R353M	R	-	2	0	0	EEF1G	62084214	62084214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.456000	0.83038	0.537000	0.68136	AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	1	0	1		2	2	2	0		0	0	65		65	68	1	2.060000	-3.203751	1	0.170000	NM_001404			52	51		232	221	1		1	1		0	0	65	0		1	1	0	1495	0	4138	0	52	232
EEF1G	1937	broad.mit.edu	37	11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000329251.4	-	6	722	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	198	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537																																						ENST00000329251.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				16						c.(592-594)Ccc>Acc		eukaryotic translation elongation factor 1 gamma							43.0	40.0	41.0					11																	62334931		1904	4117	6021	SO:0001583	missense	1937	0	0					g.chr11:62334931G>T	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.592C>A	chr11.hg19:g.62334931G>T	ENSP00000331901:p.Pro198Thr	0					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T	p.P198T	NM_001404.4	NP_001395.1	1	2	3	1.991067	P26641	EF1G_HUMAN		6	722	-			B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	1	1	hg19	c.592C>A	CCDS44626.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719014	0.89205	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.34667	1.35;1.35	4.8	4.8	0.61643	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.93898	3.47	0.80722	D	1	D;P	0.60575	0.988;0.868	D;P	0.65573	0.936;0.817	T	0.77629	-0.2516	10	0.66056	D	0.02	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	248;198	B4DTG2;P26641	.;EF1G_HUMAN	T	198;248	ENSP00000331901:P198T;ENSP00000367258:P248T	ENSP00000331901:P198T	P	-	1	0	0	EEF1G	62091507	62091507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001404			20	18		71	71	1		1	1		0	0	26	0		9.999976e-01	1	0	633	0	4011	0	20	71
EML3	256364	broad.mit.edu	37	11	62373565	62373565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000278845.4_Silent_p.G543G|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Silent_p.G542G|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Silent_p.G325G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	542						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637																																						ENST00000394773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1624-1626)ggG>ggA		echinoderm microtubule associated protein like 3							50.0	68.0	62.0					11																	62373565		2202	4297	6499	SO:0001819	synonymous_variant	256364	0	0					g.chr11:62373565C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1626G>A	chr11.hg19:g.62373565C>T		0					EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.G325G|EML3_ENST00000278845.4_Silent_p.G543G|RP11-831H9.3_ENST00000532626.1_RNA	p.G542G	NM_153265.2	NP_694997.2	1	2	3	1.991067	Q32P44	EMAL3_HUMAN		13	1933	-			Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	1	1	hg19	c.1626G>A	CCDS8023.2	1	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054592	0.19907	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	3.26	0.37387	5.25	3.26	0.37387	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	-19.5332	6.4573	0.21936	0.0:0.7179:0.1841:0.098	.	.	.	.	T	537	.	.	A	-	1	0	0	EML3	62130141	62130141	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	0.880000	0.28159	1.208000	0.43306	0.467000	0.42956	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	0		2	2	2	0		0	0	166		166	162	1	2.060000	-20.000000	1	0.170000	NM_153265			182	169		1000	966	1		1	1		0	0	166	0		1	9.999606e-01	0	10	0	69	0	182	1000
EML3	256364	broad.mit.edu	37	11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.R536H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.R319H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642																																						ENST00000394773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1606-1608)cGc>cAc		echinoderm microtubule associated protein like 3							44.0	57.0	52.0					11																	62373584		2202	4299	6501	SO:0001583	missense	256364	0	0					g.chr11:62373584C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1607G>A	chr11.hg19:g.62373584C>T	ENSP00000378254:p.Arg536His	0					EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319H|EML3_ENST00000278845.4_Missense_Mutation_p.R537H|RP11-831H9.3_ENST00000532626.1_RNA	p.R536H	NM_153265.2	NP_694997.2	1	2	3	1.991067	Q32P44	EMAL3_HUMAN		13	1914	-			Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	1	1	hg19	c.1607G>A	CCDS8023.2	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463749	0.84425	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.31247	1.55;1.5;1.53;1.53;1.53	5.25	5.25	0.73442	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.86028	2.79	0.58432	D	0.999998	D;P;D;D;D	0.89917	0.97;0.949;0.973;1.0;1.0	P;B;P;D;D	0.87578	0.637;0.312;0.55;0.991;0.998	T	0.66881	-0.5811	10	0.66056	D	0.02	-26.1227	16.3399	0.83079	0.0:1.0:0.0:0.0	.	536;536;319;537;508	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	H	536;537;319;508;536	ENSP00000378254:R536H;ENSP00000278845:R537H;ENSP00000433417:R319H;ENSP00000435064:R508H;ENSP00000434513:R536H	ENSP00000278845:R537H	R	-	2	0	0	EML3	62130160	62130160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.086000	0.76885	2.450000	0.82876	0.467000	0.42956	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	0		2	2	2	0		0	0	141		141	132	1	2.060000	-20.000000	1	0.170000	NM_153265			176	162		799	764	1		1	1		0	0	141	0		1	1	0	35	0	84	0	176	799
EML3	256364	broad.mit.edu	37	11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000278845.4_Missense_Mutation_p.A327T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.A326T|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.A109T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	326						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527																																						ENST00000394773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(976-978)Gct>Act		echinoderm microtubule associated protein like 3		C	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	157.0	140.0	145.0		976	5.6	1.0	11	dbSNP_134	145	0,8598		0,0,4299	no	missense	EML3	NM_153265.2	58	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	326/897	62376231	1,13001	2202	4299	6501	SO:0001583	missense	256364	1	121388	33				g.chr11:62376231C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.976G>A	chr11.hg19:g.62376231C>T	ENSP00000378254:p.Ala326Thr	0					EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.A109T|EML3_ENST00000278845.4_Missense_Mutation_p.A327T|RP11-831H9.3_ENST00000532626.1_RNA	p.A326T	NM_153265.2	NP_694997.2	1	2	3	1.991067	Q32P44	EMAL3_HUMAN		8	1283	-			Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	1	1	hg19	c.976G>A	CCDS8023.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.586654|4.586654	0.86851|0.86851	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.33438|.	1.5;1.46;1.41;1.47;1.41|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.936;0.997;0.997|.	D;D;P;D;D|.	0.91635|.	0.999;0.999;0.535;0.989;0.942|.	T|T	0.72377|0.72377	-0.4312|-0.4312	10|5	0.66056|.	D|.	0.02|.	-7.5773|-7.5773	17.0083|17.0083	0.86399|0.86399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;326;109;327;298|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	T|N	326;327;109;298;326|320	ENSP00000378254:A326T;ENSP00000278845:A327T;ENSP00000433417:A109T;ENSP00000435064:A298T;ENSP00000434513:A326T|.	ENSP00000278845:A327T|.	A|S	-|-	1|2	0|0	0|0	EML3|EML3	62132807|62132807	62132807|62132807	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.571000|0.571000	0.35966|0.35966	5.539000|5.539000	0.67199|0.67199	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCT|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-20.000000	1	0.170000	NM_153265			82	80		429	419	1		1	1		0	0	103	0		1	1	0	31	0	100	0	82	429
B3GAT3	26229	broad.mit.edu	37	11	62384603	62384603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000265471.5	-	3	701	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000531383.1_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	158					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672																																						ENST00000265471.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(472-474)gtC>gtT		beta-1,3-glucuronyltransferase 3							46.0	49.0	48.0					11																	62384603		2202	4299	6501	SO:0001819	synonymous_variant	26229	8	121410	40				g.chr11:62384603G>A	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.474C>T	chr11.hg19:g.62384603G>A		0					B3GAT3_ENST00000531383.1_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V	p.V158V	NM_012200.3	NP_036332.2	1	2	3	1.991067	O94766	B3GA3_HUMAN		3	701	-			B7ZAB3|Q96I06|Q9UEP0	Silent	SNP	ENST00000265471.5	1	1	hg19	c.474C>T	CCDS8025.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.155179	1	0.170000	NM_012200			62	60		323	316	1		1	1		0	0	76	0		1	1	0	51	0	194	0	62	323
B3GAT3	26229	broad.mit.edu	37	11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000265471.5	-	2	399	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	58					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647																																						ENST00000265471.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(172-174)Ctc>Ttc		beta-1,3-glucuronyltransferase 3							23.0	29.0	27.0					11																	62388054		2202	4295	6497	SO:0001583	missense	26229	0	0					g.chr11:62388054G>A	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.172C>T	chr11.hg19:g.62388054G>A	ENSP00000265471:p.Leu58Phe	0					B3GAT3_ENST00000531383.1_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F	p.L58F	NM_012200.3	NP_036332.2	1	2	3	1.991067	O94766	B3GA3_HUMAN		2	399	-			B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	0	1	hg19	c.172C>T	CCDS8025.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499735	0.85176	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66815	-0.2;-0.21;-0.23;0.77	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.070269	0.64402	D	0.000016	T	0.75722	0.3888	L	0.58101	1.795	0.48288	D	0.999622	D;D;P	0.71674	0.998;0.998;0.949	D;D;P	0.78314	0.991;0.991;0.601	T	0.69658	-0.5086	10	0.09084	T	0.74	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	58;64;58	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	F	58;58;58;81	ENSP00000265471:L58F;ENSP00000431359:L58F;ENSP00000432474:L58F;ENSP00000432854:L81F	ENSP00000265471:L58F	L	-	1	0	0	B3GAT3	62144630	62144630	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	3.026000	0.49689	2.599000	0.87857	0.655000	0.94253	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	1		2	2	2	0		0	0	20		20	22	1	2.060000	-20.000000	1	0.170000	NM_012200			30	28		80	79	1		1	1		0	0	20	0		1	1	0	27	0	83	0	30	80
GANAB	23193	broad.mit.edu	37	11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000356638.3	-	24	2762	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000346178.4_Missense_Mutation_p.S938P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	916					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCTGGAAGGACAGGCGGCTT	0.512																																					Melanoma(23;1005 1074 15747 18937)	ENST00000356638.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999433	0.990000	1.000000																										0				35						c.(2746-2748)Tcc>Ccc		glucosidase, alpha; neutral AB	Miglitol(DB00491)						94.0	90.0	91.0					11																	62393376		2202	4299	6501	SO:0001583	missense	23193	0	0					g.chr11:62393376A>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2746T>C	chr11.hg19:g.62393376A>G	ENSP00000349053:p.Ser916Pro	0					GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|GANAB_ENST00000346178.4_Missense_Mutation_p.S938P|GANAB_ENST00000540933.1_Missense_Mutation_p.S819P	p.S916P	NM_198334.1	NP_938148.1	1	2	3	1.991067	Q14697	GANAB_HUMAN		24	2762	-			A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	1	1	hg19	c.2746T>C	CCDS8026.1	1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746685	0.30955	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88896	-2.38;-2.33;-2.44;-2.38	4.84	0.998	0.19857	4.84	0.998	0.19857	.	0.571109	0.17907	N	0.157987	T	0.77705	0.4170	N	0.16790	0.44	0.29699	N	0.84028	B;B;B;B	0.23249	0.082;0.082;0.0;0.0	B;B;B;B	0.27262	0.078;0.078;0.002;0.001	T	0.70185	-0.4941	10	0.48119	T	0.1	-5.0023	6.0398	0.19728	0.3491:0.489:0.0:0.162	.	802;824;916;938	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	938;916;824;819	ENSP00000340466:S938P;ENSP00000349053:S916P;ENSP00000435306:S824P;ENSP00000442962:S819P	ENSP00000340466:S938P	S	-	1	0	0	GANAB	62149952	62149952	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.455000	0.35190	0.693000	0.31634	0.459000	0.35465	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-15.855210	1	0.170000	NM_198334			36	36		252	242	1		1	1		0	0	55	0		1	1	0	251	0	696	0	36	252
GANAB	23193	broad.mit.edu	37	11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000356638.3	-	7	727	c.711G>T	c.(709-711)aaG>aaT	p.K237N	GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	237					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CACCATACGGCTTGCTGTCAG	0.537																																					Melanoma(23;1005 1074 15747 18937)	ENST00000356638.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(709-711)aaG>aaT		glucosidase, alpha; neutral AB	Miglitol(DB00491)						118.0	119.0	119.0					11																	62400663		2202	4299	6501	SO:0001583	missense	23193	0	0					g.chr11:62400663C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.711G>T	chr11.hg19:g.62400663C>A	ENSP00000349053:p.Lys237Asn	0					GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N|GANAB_ENST00000540933.1_Missense_Mutation_p.K140N	p.K237N	NM_198334.1	NP_938148.1	1	2	3	1.991067	Q14697	GANAB_HUMAN		7	727	-			A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	1	1	hg19	c.711G>T	CCDS8026.1	1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364145	0.41902	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90261	-2.62;-2.61;-1.95;-2.64	5.14	4.23	0.50019	5.14	4.23	0.50019	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.998;0.982;0.938	D;D;P;P	0.75484	0.986;0.986;0.82;0.878	D	0.94050	0.7317	10	0.87932	D	0	-28.5445	10.6238	0.45495	0.0:0.834:0.0:0.166	.	123;145;237;259	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	259;237;145;140	ENSP00000340466:K259N;ENSP00000349053:K237N;ENSP00000435306:K145N;ENSP00000442962:K140N	ENSP00000340466:K259N	K	-	3	2	2	GANAB	62157239	62157239	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	0.990000	0.29642	0.763000	0.33175	-1.151000	0.01829	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_198334			125	121		480	466	1		1	1		0	0	113	0		1	1	0	223	0	394	0	125	480
INTS5	80789	broad.mit.edu	37	11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A	rs371125173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	476					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587																																						ENST00000330574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1426-1428)gCg>gTg		integrator complex subunit 5		G	VAL/ALA	0,4404		0,0,2202	74.0	77.0	76.0		1427	4.0	0.9	11		76	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS5	NM_030628.1	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	476/1020	62416125	1,13001	2202	4299	6501	SO:0001583	missense	80789	7	121412	42				g.chr11:62416125G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1427C>T	chr11.hg19:g.62416125G>A	ENSP00000327889:p.Ala476Val	0					GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	p.A476V	NM_030628.1	NP_085131.1	1	2	3	1.991067	Q6P9B9	INT5_HUMAN		2	1479	-			Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	1	1	hg19	c.1427C>T	CCDS8027.1	1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551340	0.27739	0.0	1.16E-4	ENSG00000185085	ENST00000330574	.	.	.	4.87	3.96	0.45880	4.87	3.96	0.45880	.	0.059338	0.64402	D	0.000003	T	0.34513	0.0900	N	0.14661	0.345	0.34055	D	0.65659	B	0.15141	0.012	B	0.06405	0.002	T	0.43621	-0.9380	9	0.54805	T	0.06	.	10.9735	0.47452	0.0909:0.0:0.9091:0.0	.	476	Q6P9B9	INT5_HUMAN	V	476	.	ENSP00000327889:A476V	A	-	2	0	0	INTS5	62172701	62172701	1.000000	0.71417	0.859000	0.33776	0.547000	0.35210	3.528000	0.53524	1.287000	0.44583	-0.140000	0.14226	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	1	0	1		21	4	2	1		1	1	128		128	125	1	2.060000	-20.000000	1	0.170000	NM_030628			145	143		643	635	1		1	1		1	0	128	0		1	9.997053e-01	0	27	0	49	0	145	643
INTS5	80789	broad.mit.edu	37	11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567																																						ENST00000330574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(514-516)Gct>Act		integrator complex subunit 5							88.0	84.0	85.0					11																	62417038		2202	4299	6501	SO:0001583	missense	80789	0	0					g.chr11:62417038C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.514G>A	chr11.hg19:g.62417038C>T	ENSP00000327889:p.Ala172Thr	0					GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	p.A172T	NM_030628.1	NP_085131.1	1	2	3	1.991067	Q6P9B9	INT5_HUMAN		2	566	-			Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	1	1	hg19	c.514G>A	CCDS8027.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355687	0.41700	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	3.53	0.40419	4.67	3.53	0.40419	.	0.190185	0.42294	D	0.000735	T	0.22044	0.0531	N	0.08118	0	0.30478	N	0.772596	B	0.09022	0.002	B	0.01281	0.0	T	0.11916	-1.0568	9	0.62326	D	0.03	.	8.3625	0.32367	0.7958:0.2042:0.0:0.0	.	172	Q6P9B9	INT5_HUMAN	T	172	.	ENSP00000327889:A172T	A	-	1	0	0	INTS5	62173614	62173614	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.979000	0.49313	0.826000	0.34661	-0.275000	0.10095	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_030628			50	50		227	224	1		1	1		0	0	70	0		1	9.999704e-01	0	22	0	52	0	50	227
UBXN1	51035	broad.mit.edu	37	11	62444433	62444433	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000301935.5	-	8	862	c.696C>T	c.(694-696)gcC>gcT	p.A232A	UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.A232A|UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1	232	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GCTGTTCCCGGGCCCGGAACG	0.597																																						ENST00000301935.5	1.000000	0.850000	1	9.800000e-01	0.990000	0.986452	0.990000	1.000000																										0				17						c.(694-696)gcC>gcT		UBX domain protein 1							59.0	62.0	61.0					11																	62444433		2202	4299	6501	SO:0001819	synonymous_variant	51035	0	0					g.chr11:62444433G>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.696C>T	chr11.hg19:g.62444433G>A		0					UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.A232A	p.A232A			1	2	3	1.991067	Q04323	UBXN1_HUMAN		8	862	-			Q9BV93|Q9BVV5	Silent	SNP	ENST00000301935.5	1	1	hg19	c.696C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_015853			52	50		496	490	1		1	1		0	0	113	0		1	1	0	58	0	562	0	52	496
HNRNPUL2	221092	broad.mit.edu	37	11	62482812	62482812	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	735	Tyr-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552																																						ENST00000301785.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2203-2205)Cga>Aga		heterogeneous nuclear ribonucleoprotein U-like 2							143.0	147.0	145.0					11																	62482812		1959	4127	6086	SO:0001819	synonymous_variant	221092	0	0					g.chr11:62482812G>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.2203C>A	chr11.hg19:g.62482812G>T		0					HNRNPUL2-BSCL2_ENST00000403734.2_Intron	p.R735R	NM_001079559.2	NP_001073027.1	1	2	3	1.991067	Q1KMD3	HNRL2_HUMAN		14	2395	-			Q8N3B3	Silent	SNP	ENST00000301785.5	1	1	hg19	c.2203C>A	CCDS41659.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-2.857869	1	0.170000	XM_495877			97	96		411	409	1		1	1		0	0	112	0		1	1	0	170	0	616	0	97	411
HNRNPUL2	221092	broad.mit.edu	37	11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	239	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393																																						ENST00000301785.5	1.000000	0.300000	5.700000e-01	3.700000e-01	0.450000	0.483833	0.450000	0.450000																										0				20						c.(715-717)gaG>gaT		heterogeneous nuclear ribonucleoprotein U-like 2							193.0	184.0	187.0					11																	62491420		1956	4148	6104	SO:0001583	missense	221092	0	0					g.chr11:62491420C>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.717G>T	chr11.hg19:g.62491420C>A	ENSP00000301785:p.Glu239Asp	0					HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	p.E239D	NM_001079559.2	NP_001073027.1	1	2	3	1.991067	Q1KMD3	HNRL2_HUMAN		3	909	-			Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	1	1	hg19	c.717G>T	CCDS41659.1	0	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621621	0.28889	.	.	ENSG00000214753	ENST00000301785	T	0.73047	-0.71	5.3	2.25	0.28309	5.3	2.25	0.28309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.218960	0.41396	D	0.000883	T	0.43809	0.1264	N	0.13198	0.31	0.30227	N	0.796265	P	0.38504	0.634	B	0.35510	0.204	T	0.37979	-0.9682	10	0.18276	T	0.48	-18.6698	4.4206	0.11479	0.0:0.5427:0.1645:0.2928	.	239	Q1KMD3	HNRL2_HUMAN	D	239	ENSP00000301785:E239D	ENSP00000301785:E239D	E	-	3	2	2	HNRNPUL2	62247996	62247996	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.743000	0.32719	0.655000	0.94253	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	0	0	0		2	2	2	0		0	0	124		124	126	1	2.060000	-3.022982	1	0.170000	XM_495877			25	24		631	653	0		1	1		0	0	124	0		9.999999e-01	9.999998e-01	0	20	0	633	0	25	631
TAF6L	10629	broad.mit.edu	37	11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	141					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGGGAACCTGGCACCTCAAGG	0.542																																						ENST00000294168.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999881	0.990000	1.000000																										0				16						c.(421-423)Gca>Aca		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							141.0	119.0	127.0					11																	62545792		2201	4299	6500	SO:0001583	missense	10629	0	0					g.chr11:62545792G>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.421G>A	chr11.hg19:g.62545792G>A	ENSP00000294168:p.Ala141Thr	0					TMEM223_ENST00000527073.1_Intron	p.A141T	NM_006473.3	NP_006464.1	1	2	3	1.991067	Q9Y6J9	TAF6L_HUMAN		5	622	+			B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	1	1	hg19	c.421G>A	CCDS8035.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362314	0.61403	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44083	0.93;0.97	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.063502	0.64402	D	0.000013	T	0.23094	0.0558	N	0.08118	0	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.15870	0.01;0.014	T	0.08289	-1.0729	10	0.15499	T	0.54	-1.7793	15.6975	0.77512	0.0:0.0:1.0:0.0	.	141;141	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	141	ENSP00000294168:A141T;ENSP00000434662:A141T	ENSP00000294168:A141T	A	+	1	0	0	TAF6L	62302368	62302368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.559000	0.90708	2.570000	0.86706	0.462000	0.41574	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-16.517940	1	0.170000	NM_006473			33	31		201	193	1		1	1		0	0	49	0		1	9.974589e-01	0	20	0	39	0	33	201
TAF6L	10629	broad.mit.edu	37	11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	233					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597																																						ENST00000294168.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(697-699)Ccc>Tcc		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							95.0	91.0	92.0					11																	62549675		2201	4299	6500	SO:0001583	missense	10629	0	0					g.chr11:62549675C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.697C>T	chr11.hg19:g.62549675C>T	ENSP00000294168:p.Pro233Ser	0					TMEM223_ENST00000527073.1_Intron	p.P233S	NM_006473.3	NP_006464.1	1	2	3	1.991067	Q9Y6J9	TAF6L_HUMAN		8	898	+			B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	1	1	hg19	c.697C>T	CCDS8035.1	1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087988	0.36855	.	.	ENSG00000162227	ENST00000294168	T	0.68331	-0.32	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.140716	0.49916	D	0.000139	T	0.49795	0.1578	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.43147	-0.9409	10	0.30078	T	0.28	-26.0172	9.9712	0.41754	0.0:0.9109:0.0:0.0891	.	233	Q9Y6J9	TAF6L_HUMAN	S	233	ENSP00000294168:P233S	ENSP00000294168:P233S	P	+	1	0	0	TAF6L	62306251	62306251	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.654000	0.54453	2.813000	0.96785	0.561000	0.74099	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	0		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_006473			101	100		464	455	1		1	1		0	0	126	0		1	9.955970e-01	0	8	0	32	0	101	464
TAF6L	10629	broad.mit.edu	37	11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	264					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617																																						ENST00000294168.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(790-792)Cgg>Tgg		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							66.0	70.0	68.0					11																	62549768		2201	4299	6500	SO:0001583	missense	10629	1	121412	36				g.chr11:62549768C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.790C>T	chr11.hg19:g.62549768C>T	ENSP00000294168:p.Arg264Trp	0					TMEM223_ENST00000527073.1_Intron	p.R264W	NM_006473.3	NP_006464.1	1	2	3	1.991067	Q9Y6J9	TAF6L_HUMAN		8	991	+			B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	1	1	hg19	c.790C>T	CCDS8035.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945740	0.73672	.	.	ENSG00000162227	ENST00000294168	T	0.72505	-0.66	5.4	2.4	0.29515	5.4	2.4	0.29515	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.87932	D	0	-13.2784	12.6043	0.56514	0.4334:0.5666:0.0:0.0	.	264	Q9Y6J9	TAF6L_HUMAN	W	264	ENSP00000294168:R264W	ENSP00000294168:R264W	R	+	1	2	2	TAF6L	62306344	62306344	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.261000	0.32980	0.352000	0.24053	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	0		2	2	2	0		0	0	142		142	138	1	2.060000	-3.270772	1	0.170000	NM_006473			113	112		486	471	1		1	1		0	0	142	0		1	9.999402e-01	0	15	0	47	0	113	486
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	rs541728237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582																																						ENST00000333449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(643-645)cGc>cAc		transmembrane protein 179B							72.0	66.0	68.0					11																	62557503		2201	4299	6500	SO:0001583	missense	374395	4	121412	33				g.chr11:62557503G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.644G>A	chr11.hg19:g.62557503G>A	ENSP00000333697:p.Arg215His	0					NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron	p.R215H	NM_199337.2	NP_955369.1	1	2	3	1.991067	Q7Z7N9	T179B_HUMAN		5	649	+				Missense_Mutation	SNP	ENST00000333449.4	1	1	hg19	c.644G>A	CCDS8036.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	0	TMEM179B	62314079	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_199337			67	66		235	230	1		1	1		0	0	60	0		1	1	0	87	0	350	0	67	235
WDR74	54663	broad.mit.edu	37	11	62601979	62601979	+	Silent	SNP	T	T	C	rs568454869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62601979T>C	ENST00000525239.1	-	8	1176	c.639A>G	c.(637-639)gcA>gcG	p.A213A	WDR74_ENST00000525752.1_Silent_p.A156A|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000311713.7_Silent_p.A213A|WDR74_ENST00000278856.4_Silent_p.A213A|STX5_ENST00000394690.1_5'Flank|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000529106.1_Silent_p.A213A|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535867.1_RNA|RP11-727F15.9_ENST00000535817.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	213					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GCTGGGGGGATGCTGGATCAT	0.577																																						ENST00000525239.1	1.000000	0.200000	6.300000e-01	3.000000e-01	0.440000	0.478980	0.440000	0.410000																										0				8						c.(637-639)gcA>gcG		WD repeat domain 74							42.0	47.0	45.0					11																	62601979		2037	4193	6230	SO:0001819	synonymous_variant	54663	0	0					g.chr11:62601979T>C		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.639A>G	chr11.hg19:g.62601979T>C		0					STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_5'Flank|WDR74_ENST00000278856.4_Silent_p.A213A|STX5_ENST00000377897.4_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000311713.7_Silent_p.A213A|STX5_ENST00000541317.1_5'Flank	p.A213A			1	2	3	1.991067	Q6RFH5	WDR74_HUMAN		8	1176	-			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	0	1	hg19	c.639A>G	CCDS44630.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-10.119310	1	0.170000	NM_018093			8	8		217	208	0		1	1		0	0	56	0		9.878869e-01	9.895545e-01	0	6	0	218	0	8	217
SLC22A6	9356	broad.mit.edu	37	11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	129					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)			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)	GGCCCTGTGAGAGCACACAAG	0.622																																						ENST00000377871.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994428	0.990000	1.000000																										0				36						c.(385-387)tCt>tTt		solute carrier family 22 (organic anion transporter), member 6	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)						44.0	41.0	42.0					11																	62751503		2201	4298	6499	SO:0001583	missense	9356	0	0					g.chr11:62751503G>A	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.386C>T	chr11.hg19:g.62751503G>A	ENSP00000367102:p.Ser129Phe	0					SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F	p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	1	2	3	1.991067	Q4U2R8	S22A6_HUMAN		2	652	-			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	0	1	hg19	c.386C>T	CCDS31591.1	1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476899	0.63849	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.52	2.18	0.27775	5.52	2.18	0.27775	Major facilitator superfamily domain (1);	0.328214	0.31531	N	0.007482	D	0.85965	0.5820	M	0.79805	2.47	0.24323	N	0.995039	D;D;D;D	0.57571	0.96;0.98;0.967;0.98	P;P;P;P	0.62491	0.844;0.844;0.903;0.844	T	0.75442	-0.3316	9	.	.	.	.	7.2314	0.26045	0.0:0.222:0.365:0.413	.	129;129;129;129	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	129;108;129;129;129	ENSP00000353597:S129F;ENSP00000367102:S129F;ENSP00000396401:S129F;ENSP00000404441:S129F	.	S	-	2	0	0	SLC22A6	62508079	62508079	0.000000	0.05858	0.838000	0.33150	0.996000	0.88848	0.252000	0.18278	1.264000	0.44198	0.650000	0.86243	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.999990	1	0.170000	NM_004790			16	16		110	106	1		1			0	0	23	0		9.999394e-01	0	0	0	0	0	0	16	110
SLC22A8	9376	broad.mit.edu	37	11	62760994	62760994	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Silent_p.I477I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	477					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGATCCCGTAGATGATATTGG	0.582																																						ENST00000336232.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1429-1431)atC>atA		solute carrier family 22 (organic anion transporter), member 8	Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)						99.0	95.0	96.0					11																	62760994		2201	4298	6499	SO:0001819	synonymous_variant	9376	0	0					g.chr11:62760994G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1431C>A	chr11.hg19:g.62760994G>T		0					SLC22A8_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000542795.1_5'Flank	p.I477I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	1	2	3	1.991067	Q8TCC7	S22A8_HUMAN		10	1566	-			B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	1	1	hg19	c.1431C>A	CCDS8042.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_004254			96	95		409	403	1		1			0	0	112	0		1	0	0	0	0	0	0	96	409
HRASLS5	117245	broad.mit.edu	37	11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000301790.4	-	2	413	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K|HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	85							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493																																						ENST00000301790.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(253-255)aGa>aAa		HRAS-like suppressor family, member 5							198.0	224.0	215.0					11																	63257730		2201	4298	6499	SO:0001583	missense	117245	0	0					g.chr11:63257730C>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.254G>A	chr11.hg19:g.63257730C>T	ENSP00000301790:p.Arg85Lys	0					HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K	p.R85K			1	2	3	1.991067	Q96KN8	HRSL5_HUMAN		2	413	-			B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	1	1	hg19	c.254G>A	CCDS8044.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785824	0.31593	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28666	1.6;2.1;1.61	3.75	-1.76	0.08006	3.75	-1.76	0.08006	.	5.966510	0.00357	N	0.000021	T	0.22551	0.0544	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33103	0.397;0.017;0.231	B;B;B	0.34722	0.188;0.005;0.058	T	0.15263	-1.0443	10	0.66056	D	0.02	-24.3145	0.7116	0.00925	0.1686:0.3593:0.1649:0.3072	.	85;75;85	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	K	75;85;85	ENSP00000444809:R75K;ENSP00000443873:R85K;ENSP00000301790:R85K	ENSP00000301790:R85K	R	-	2	0	0	HRASLS5	63014306	63014306	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.857000	0.04286	-0.330000	0.08514	-0.140000	0.14226	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	1	0	1		2	2	2	0		0	0	348		348	345	1	2.060000	-20.000000	1	0.170000	NM_054108			347	338		1497	1473	1		1	0		0	0	348	0		1	0	0	0	0	1	0	347	1497
LGALS12	85329	broad.mit.edu	37	11	63283034	63283034	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000394618.3	+	8	1004		c.e8-1		LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			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						GCTTCCTGCAGTTTTACTGTG	0.622																																						ENST00000394618.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.990956	0.990000	1.000000																										0				16						c.e8-1		lectin, galactoside-binding, soluble, 12							65.0	61.0	62.0					11																	63283034		2201	4298	6499	SO:0001630	splice_region_variant	85329	0	0					g.chr11:63283034G>A	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.714-1G>A	chr11.hg19:g.63283034G>A		0					LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site		NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	1	2	3	1.991067	Q96DT0	LEG12_HUMAN		8	1004	+			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Splice_Site	SNP	ENST00000394618.3	1	1	hg19		CCDS8045.1	1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648764	0.67358	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	LGALS12	63039610	63039610	1.000000	0.71417	0.660000	0.29694	0.425000	0.31504	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_033101	Intron		38	37		336	327	1		1			0	0	81	0		1	0	0	0	0	0	0	38	336
RARRES3	5920	broad.mit.edu	37	11	63307000	63307000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307000C>T	ENST00000255688.3	+	2	70	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RARRES3_ENST00000439013.2_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	8					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACACCAAGAGCCCAAACCTGG	0.552																																						ENST00000255688.3	1.000000	0.160000	4.500000e-01	2.300000e-01	0.320000	0.358692	0.320000	0.310000																										0				6						c.(22-24)Ccc>Tcc		retinoic acid receptor responder (tazarotene induced) 3							109.0	115.0	113.0					11																	63307000		2196	4298	6494	SO:0001583	missense	5920	0	0					g.chr11:63307000C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.22C>T	chr11.hg19:g.63307000C>T	ENSP00000255688:p.Pro8Ser	0					RARRES3_ENST00000439013.2_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	p.P8S	NM_004585.3	NP_004576.2	1	2	3	1.991067	Q9UL19	HRSL4_HUMAN		2	70	+			B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	0	1	hg19	c.22C>T	CCDS41662.1	0	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674977	0.47781	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21932	1.98;1.98;1.98	4.35	3.43	0.39272	4.35	3.43	0.39272	.	0.159898	0.40302	N	0.001137	T	0.49321	0.1550	M	0.88704	2.975	0.09310	N	1	D	0.54772	0.968	D	0.68943	0.961	T	0.45833	-0.9234	10	0.87932	D	0	.	11.7062	0.51599	0.178:0.822:0.0:0.0	.	8	Q9UL19	TIG3_HUMAN	S	8	ENSP00000402943:P8S;ENSP00000255688:P8S;ENSP00000346431:P8S	ENSP00000255688:P8S	P	+	1	0	0	RARRES3	63063576	63063576	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.464000	0.35288	1.181000	0.42912	0.563000	0.77884	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	0	0	0		2	2	2	0		0	0	97		97	96	1	2.060000	-2.994306	1	0.170000				10	10		373	365	0		1	1		0	0	97	0		9.966293e-01	9.994203e-01	0	8	0	507	0	10	373
RARRES3	5920	broad.mit.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000255688.3	+	2	151	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000439013.2_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473																																						ENST00000255688.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(103-105)Cat>Aat		retinoic acid receptor responder (tazarotene induced) 3							105.0	109.0	108.0					11																	63307081		2194	4297	6491	SO:0001583	missense	5920	0	0					g.chr11:63307081C>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.103C>A	chr11.hg19:g.63307081C>A	ENSP00000255688:p.His35Asn	0					RARRES3_ENST00000439013.2_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	p.H35N	NM_004585.3	NP_004576.2	1	2	3	1.991067	Q9UL19	HRSL4_HUMAN		2	151	+			B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	1	1	hg19	c.103C>A	CCDS41662.1	1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084429	0.55861	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.43294	0.95;0.95;0.95	4.36	4.36	0.52297	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.60843	0.2300	M	0.74546	2.27	0.27514	N	0.951613	D	0.76494	0.999	D	0.97110	1.0	T	0.54794	-0.8240	10	0.56958	D	0.05	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	N	35	ENSP00000402943:H35N;ENSP00000255688:H35N;ENSP00000346431:H35N	ENSP00000255688:H35N	H	+	1	0	0	RARRES3	63063657	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-3.398715	1	0.170000				85	84		321	315	1		1	1		0	0	82	0		1	1	0	62	0	326	0	85	321
RARRES3	5920	broad.mit.edu	37	11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T	rs374580366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000255688.3	+	3	238	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582																																						ENST00000255688.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999836	0.990000	1.000000																										0				6						c.(190-192)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 3		C	CYS/ARG	0,3984		0,0,1992	96.0	107.0	103.0		190	0.2	0.0	11		103	1,8339		0,1,4169	no	missense	RARRES3	NM_004585.3	180	0,1,6161	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	64/165	63312164	1,12323	1992	4170	6162	SO:0001583	missense	5920	16	120934	45				g.chr11:63312164C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.190C>T	chr11.hg19:g.63312164C>T	ENSP00000255688:p.Arg64Cys	0					RARRES3_ENST00000439013.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	p.R64C	NM_004585.3	NP_004576.2	1	2	3	1.991067	Q9UL19	HRSL4_HUMAN		3	238	+			B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	1	1	hg19	c.190C>T	CCDS41662.1	1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869850	0.51588	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21543	2.0;2.0;2.0	4.29	0.21	0.15231	4.29	0.21	0.15231	NC (1);	1.229820	0.05716	N	0.596757	T	0.21921	0.0528	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.37174	-0.9717	10	0.66056	D	0.02	.	4.084	0.09939	0.2822:0.4992:0.137:0.0816	.	64	Q9UL19	TIG3_HUMAN	C	64	ENSP00000402943:R64C;ENSP00000255688:R64C;ENSP00000346431:R64C	ENSP00000255688:R64C	R	+	1	0	0	RARRES3	63068740	63068740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.061000	0.11693	0.054000	0.16065	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	0		2	2	2	0		0	0	159		159	156	1	2.060000	-20.000000	1	0.170000				90	87		722	707	1		1	1		0	0	159	0		1	1	0	53	0	576	0	90	722
RARRES3	5920	broad.mit.edu	37	11	63312262	63312262	+	Silent	SNP	G	G	A	rs200737005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000255688.3	+	3	336	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000439013.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	96					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527																																						ENST00000255688.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(286-288)gcG>gcA		retinoic acid receptor responder (tazarotene induced) 3							128.0	132.0	131.0					11																	63312262		2026	4195	6221	SO:0001819	synonymous_variant	5920	11	120980	43				g.chr11:63312262G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.288G>A	chr11.hg19:g.63312262G>A		0					RARRES3_ENST00000439013.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A	p.A96A	NM_004585.3	NP_004576.2	1	2	3	1.991067	Q9UL19	HRSL4_HUMAN		3	336	+			B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	ENST00000255688.3	1	1	hg19	c.288G>A	CCDS41662.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	0		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000				100	100		482	479	1		1	1		0	0	122	0		1	1	0	55	0	427	0	100	482
HRASLS2	54979	broad.mit.edu	37	11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	18					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502																																						ENST00000255695.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(52-54)cGc>cAc		HRAS-like suppressor 2		C	HIS/ARG	0,4402		0,0,2201	232.0	224.0	227.0		53	-0.4	0.0	11	dbSNP_134	227	1,8595	1.2+/-3.3	0,1,4297	no	missense	HRASLS2	NM_017878.1	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	18/163	63327622	1,12997	2201	4298	6499	SO:0001583	missense	54979	0	0					g.chr11:63327622C>T		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.53G>A	chr11.hg19:g.63327622C>T	ENSP00000255695:p.Arg18His	0						p.R18H	NM_017878.1	NP_060348.1	1	2	3	1.991067	Q9NWW9	HRSL2_HUMAN		2	111	-			B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	1	1	hg19	c.53G>A	CCDS8046.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625248	0.87560	0.0	1.16E-4	ENSG00000133328	ENST00000255695	T	0.45276	0.9	4.86	-0.381	0.12485	4.86	-0.381	0.12485	.	0.194727	0.29253	U	0.012692	T	0.57272	0.2042	M	0.89163	3.01	0.09310	N	1	D	0.69078	0.997	D	0.63957	0.92	T	0.49790	-0.8902	10	0.54805	T	0.06	-1.4955	2.6373	0.04961	0.132:0.4194:0.2856:0.1631	.	18	Q9NWW9	HRSL2_HUMAN	H	18	ENSP00000255695:R18H	ENSP00000255695:R18H	R	-	2	0	0	HRASLS2	63084198	63084198	0.098000	0.21812	0.000000	0.03702	0.886000	0.51366	1.077000	0.30741	-0.225000	0.09913	0.563000	0.77884	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	1	0	1		2	2	2	0		0	0	282		282	280	1	2.060000	-20.000000	1	0.170000	NM_017878			186	184		847	838	1		1	1		0	0	282	0		1	9.874666e-01	0	18	0	15	0	186	847
RTN3	10313	broad.mit.edu	37	11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	424					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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423																																						ENST00000377819.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1270-1272)tCt>tAt		reticulon 3							68.0	68.0	68.0					11																	63487245		2201	4298	6499	SO:0001583	missense	10313	0	0					g.chr11:63487245C>A	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.1271C>A	chr11.hg19:g.63487245C>A	ENSP00000367050:p.Ser424Tyr	0					RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000341307.2_Intron	p.S424Y	NM_001265589.1	NP_001252518.1	1	2	3	1.991067	O95197	RTN3_HUMAN		3	1425	+			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	1	1	hg19	c.1271C>A	CCDS58141.1	1	.	.	.	.	.	.	.	.	.	.	C	0	-2.750587	0.00086	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.19532	2.14;2.14;2.14	5.85	-11.7	0.00046	5.85	-11.7	0.00046	.	3.215830	0.00741	N	0.001011	T	0.06371	0.0164	N	0.03608	-0.345	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	0.17653	-1.0362	10	0.02654	T	1	19.0572	9.1785	0.37127	0.4456:0.3475:0.2069:0.0	.	312;424;405	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	424;405;312	ENSP00000367050:S424Y;ENSP00000344106:S405Y;ENSP00000442733:S312Y	ENSP00000344106:S405Y	S	+	2	0	0	RTN3	63243821	63243821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.396000	0.02513	-2.885000	0.00317	-0.868000	0.02995	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.358424	1	0.170000	NM_006054			65	65		314	309	1		1	0		0	0	74	0		1	3.038298e-02	0	1	0	1	0	65	314
RTN3	10313	broad.mit.edu	37	11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	603					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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403																																						ENST00000377819.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1807-1809)Cct>Tct		reticulon 3							105.0	111.0	109.0					11																	63487781		2201	4298	6499	SO:0001583	missense	10313	0	0					g.chr11:63487781C>T	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.1807C>T	chr11.hg19:g.63487781C>T	ENSP00000367050:p.Pro603Ser	0					RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000341307.2_Intron	p.P603S	NM_001265589.1	NP_001252518.1	1	2	3	1.991067	O95197	RTN3_HUMAN		3	1961	+			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	1	1	hg19	c.1807C>T	CCDS58141.1	1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389613	0.25118	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22336	1.97;1.97;1.96	5.77	3.86	0.44501	5.77	3.86	0.44501	.	2.195500	0.01661	N	0.025135	T	0.14184	0.0343	N	0.14661	0.345	0.19775	N	0.99995	B;B;B	0.32753	0.383;0.264;0.383	B;B;B	0.26094	0.066;0.03;0.066	T	0.17258	-1.0375	10	0.30078	T	0.28	-1.5901	8.5939	0.33703	0.0:0.7584:0.1569:0.0846	.	491;603;584	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	603;584;491	ENSP00000367050:P603S;ENSP00000344106:P584S;ENSP00000442733:P491S	ENSP00000344106:P584S	P	+	1	0	0	RTN3	63244357	63244357	0.000000	0.05858	0.295000	0.24960	0.138000	0.21146	0.426000	0.21363	1.549000	0.49425	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_006054			89	88		430	423	1		1	0		0	0	120	0		1	1.406586e-01	0	1	0	3	0	89	430
RTN3	10313	broad.mit.edu	37	11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	904	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438																																						ENST00000377819.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				20						c.(2710-2712)caG>caT		reticulon 3							81.0	62.0	68.0					11																	63517644		2201	4298	6499	SO:0001583	missense	10313	0	0					g.chr11:63517644G>T	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.2712G>T	chr11.hg19:g.63517644G>T	ENSP00000367050:p.Gln904His	0					RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H	p.Q904H	NM_001265589.1	NP_001252518.1	1	2	3	1.991067	O95197	RTN3_HUMAN		4	2866	+			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	1	1	hg19	c.2712G>T	CCDS58141.1	1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754684	0.69648	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.1	4.17	0.49024	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68593	2.085	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.981;0.996;0.999;0.986	T	0.65043	-0.6264	10	0.59425	D	0.04	-7.2178	10.9225	0.47174	0.0923:0.0:0.9077:0.0	.	108;792;904;108;108;885;127	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	H	108;127;134;904;885;792;108;108	ENSP00000340903:Q108H;ENSP00000348279:Q127H;ENSP00000437971:Q134H;ENSP00000367050:Q904H;ENSP00000344106:Q885H;ENSP00000442733:Q792H;ENSP00000440874:Q108H;ENSP00000346492:Q108H	ENSP00000344106:Q885H	Q	+	3	2	2	RTN3	63274220	63274220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.875000	0.63072	2.538000	0.85594	0.655000	0.94253	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1		2	2	2	0		0	0	21		21	22	1	2.060000	-20.000000	1	0.170000	NM_006054			20	20		76	75	1		1	1		0	0	21	0		9.999977e-01	1	0	173	0	501	0	20	76
C11orf84	144097	broad.mit.edu	37	11	63585407	63585407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667																																						ENST00000294244.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(256-258)agC>agT		chromosome 11 open reading frame 84							67.0	62.0	64.0					11																	63585407		2201	4298	6499	SO:0001819	synonymous_variant	144097	2	121402	31				g.chr11:63585407C>T	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.258C>T	chr11.hg19:g.63585407C>T		0						p.S86S	NM_138471.1	NP_612480.1	1	2	3	1.991067	Q9BUA3	CK084_HUMAN		2	557	+			Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	1	1	hg19	c.258C>T	CCDS31594.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.438749	1	0.170000	NM_138471			37	34		170	164	1		1	1		0	0	27	0		1	9.999990e-01	0	18	0	84	0	37	170
C11orf84	144097	broad.mit.edu	37	11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	288										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGGGCCCAGACAGCAAGGA	0.642																																						ENST00000294244.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(862-864)Gac>Aac		chromosome 11 open reading frame 84							55.0	56.0	56.0					11																	63586402		2201	4298	6499	SO:0001583	missense	144097	0	0					g.chr11:63586402G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.862G>A	chr11.hg19:g.63586402G>A	ENSP00000294244:p.Asp288Asn	0						p.D288N	NM_138471.1	NP_612480.1	1	2	3	1.991067	Q9BUA3	CK084_HUMAN		5	1161	+			Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	1	1	hg19	c.862G>A	CCDS31594.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172089	0.57584	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.50277	0.75	4.99	2.06	0.26882	4.99	2.06	0.26882	.	1.012140	0.07893	N	0.971511	T	0.33411	0.0862	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.87932	D	0	-8.6044	6.4486	0.21890	0.3034:0.0:0.6966:0.0	.	288	Q9BUA3	CK084_HUMAN	N	288;63	ENSP00000294244:D288N	ENSP00000294244:D288N	D	+	1	0	0	C11orf84	63342978	63342978	0.439000	0.25610	0.007000	0.13788	0.923000	0.55619	0.965000	0.29319	0.615000	0.30124	0.561000	0.74099	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	1	0	1		2	2	2	0		0	0	67		67	63	1	2.060000	-20.000000	1	0.170000	NM_138471			94	92		337	332	1		1	1		0	0	67	0		1	1	0	21	0	78	0	94	337
MARK2	2011	broad.mit.edu	37	11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000509502.2	+	8	1077	c.614T>C	c.(613-615)gTt>gCt	p.V205A	MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											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						AGCCTAGGAGTTATCCTCTAT	0.507																																						ENST00000509502.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(613-615)gTt>gCt		MAP/microtubule affinity-regulating kinase 2							164.0	176.0	172.0					11																	63667527		2201	4297	6498	SO:0001583	missense	2011	0	0					g.chr11:63667527T>C	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.614T>C	chr11.hg19:g.63667527T>C	ENSP00000423974:p.Val205Ala	0					MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A	p.V205A	NM_017490.3	NP_059672.2	1	2	3	1.991067				8	1077	+				Missense_Mutation	SNP	ENST00000509502.2	1	1	hg19	c.614T>C	CCDS41665.1	1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.966610	0.92855	.	.	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	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	5.47	5.47	0.80525	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	0.54143	0.1840	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.994;0.999;0.998	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	205;205;238;238;238;238	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	A	238;238;238;238;205;238;238;238;238;205;205;205;205	ENSP00000385751:V238A;ENSP00000326632:V238A;ENSP00000367040:V238A;ENSP00000389184:V238A;ENSP00000367041:V205A;ENSP00000425765:V238A;ENSP00000355091:V238A;ENSP00000294247:V238A;ENSP00000423974:V205A;ENSP00000421075:V205A;ENSP00000386128:V205A;ENSP00000415494:V205A	ENSP00000326632:V238A	V	+	2	0	0	MARK2	63424103	63424103	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	1	0	1		2	2	6	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000	NM_017490			183	177		794	772	1		1	1	1	0	1	212	1485		1	1	1	32	236	90	1166	183	794
NAA40	79829	broad.mit.edu	37	11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000377793.4	+	5	475	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q|NAA40_ENST00000536939.1_3'UTR	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	125	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577																																						ENST00000377793.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(373-375)cGg>cAg		N(alpha)-acetyltransferase 40, NatD catalytic subunit							181.0	153.0	163.0					11																	63720001		2201	4297	6498	SO:0001583	missense	79829	0	0					g.chr11:63720001G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.374G>A	chr11.hg19:g.63720001G>A	ENSP00000367024:p.Arg125Gln	0					NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000536939.1_3'UTR	p.R125Q	NM_024771.2	NP_079047.2	1	2	3	1.991067	Q86UY6	NAA40_HUMAN		5	475	+			B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	1	1	hg19	c.374G>A	CCDS8053.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.029838	0.97216	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.23754	1.89;1.89;1.89	5.72	5.72	0.89469	5.72	5.72	0.89469	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70934	-0.4737	10	0.62326	D	0.03	-15.2497	18.6393	0.91389	0.0:0.0:1.0:0.0	.	85;125	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	125;85;104	ENSP00000367024:R125Q;ENSP00000407578:R85Q;ENSP00000442055:R104Q	ENSP00000367024:R125Q	R	+	2	0	0	NAA40	63476577	63476577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.514000	0.98013	2.692000	0.91855	0.555000	0.69702	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.005262	1	0.170000	NM_024771			56	55		275	272	1		1	1		0	0	66	0		1	9.954664e-01	0	17	0	26	0	56	275
NAA40	79829	broad.mit.edu	37	11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000377793.4	+	8	778	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	226					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562																																						ENST00000377793.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(676-678)tCc>tTc		N(alpha)-acetyltransferase 40, NatD catalytic subunit							60.0	58.0	59.0					11																	63721914		2201	4297	6498	SO:0001583	missense	79829	2	121410	33				g.chr11:63721914C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.677C>T	chr11.hg19:g.63721914C>T	ENSP00000367024:p.Ser226Phe	0					NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F	p.S226F	NM_024771.2	NP_079047.2	1	2	3	1.991067	Q86UY6	NAA40_HUMAN		8	778	+			B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	1	1	hg19	c.677C>T	CCDS8053.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401041	0.62288	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.421413	0.28555	N	0.014933	T	0.41696	0.1170	N	0.14661	0.345	0.50813	D	0.999892	B;B	0.32693	0.38;0.38	B;B	0.28011	0.085;0.085	T	0.50039	-0.8874	9	0.72032	D	0.01	-13.045	16.5473	0.84450	0.0:1.0:0.0:0.0	.	186;226	B4DU10;Q86UY6	.;NAA40_HUMAN	F	226;186;113;205	.	ENSP00000367024:S226F	S	+	2	0	0	NAA40	63478490	63478490	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	3.430000	0.52807	2.429000	0.82318	0.555000	0.69702	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.211039	1	0.170000	NM_024771			57	56		236	229	1		1	1		0	0	88	0		1	9.998690e-01	0	20	0	38	0	57	236
MACROD1	28992	broad.mit.edu	37	11	63782725	63782725	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	182	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding. {ECO:0000250}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657																																						ENST00000255681.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				11						c.(544-546)ggC>ggT		MACRO domain containing 1							80.0	57.0	65.0					11																	63782725		2198	4295	6493	SO:0001630	splice_region_variant	28992	6	121306	33				g.chr11:63782725G>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.547+1C>T	chr11.hg19:g.63782725G>A		0						p.G182G	NM_014067.3	NP_054786.2	1	2	3	1.991067	Q9BQ69	MACD1_HUMAN		4	612	-			Q9UH96	Splice_Site	SNP	ENST00000255681.6	1	0	hg19	c.546C>T	CCDS8056.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_014067	Silent		21	20		70	69	1		1	1		0	0	15	0		9.999989e-01	9.999231e-01	0	18	0	40	0	21	70
STIP1	10963	broad.mit.edu	37	11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000305218.4	+	3	388	c.241G>A	c.(241-243)Gct>Act	p.A81T	STIP1_ENST00000358794.5_Missense_Mutation_p.A128T|STIP1_ENST00000538945.1_Intron|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	81					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418																																						ENST00000305218.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(241-243)Gct>Act		stress-induced phosphoprotein 1							118.0	121.0	120.0					11																	63961682		2201	4297	6498	SO:0001583	missense	10963	0	0					g.chr11:63961682G>A	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.241G>A	chr11.hg19:g.63961682G>A	ENSP00000305958:p.Ala81Thr	0					STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000358794.5_Missense_Mutation_p.A128T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000538945.1_Intron	p.A81T	NM_006819.2	NP_006810.1	1	2	3	1.991067	P31948	STIP1_HUMAN		3	388	+			B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	1	1	hg19	c.241G>A	CCDS8058.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.718011	0.96839	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	T;T;T	0.68025	1.98;1.98;-0.3	5.57	5.57	0.84162	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.85372	0.1114	10	0.45353	T	0.12	-15.1911	18.7171	0.91679	0.0:0.0:1.0:0.0	.	81;81	P31948;F5H783	STIP1_HUMAN;.	T	128;81;81	ENSP00000351646:A128T;ENSP00000305958:A81T;ENSP00000442704:A81T	ENSP00000305958:A81T	A	+	1	0	0	STIP1	63718258	63718258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.139000	0.94554	2.788000	0.95919	0.650000	0.86243	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_006819			137	136		575	571	1		1	1		0	0	135	0		1	1	0	139	0	286	0	137	575
STIP1	10963	broad.mit.edu	37	11	63970625	63970625	+	Silent	SNP	G	G	A	rs2070232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63970625G>A	ENST00000305218.4	+	12	1458	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	STIP1_ENST00000358794.5_Silent_p.A484A|STIP1_ENST00000538945.1_Silent_p.A413A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	437					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAGCCGCTGCGCTGGAAGCGA	0.577													G|||	347	0.0692891	0.0136	0.1239	5008	,	,		20508	0.0456		0.0636	False		,,,				2504	0.136					ENST00000305218.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1309-1311)gcG>gcA		stress-induced phosphoprotein 1		G		108,4294	83.4+/-121.9	1,106,2094	66.0	64.0	64.0		1311	-5.3	0.1	11	dbSNP_96	64	593,8001	157.5+/-211.1	22,549,3726	no	coding-synonymous	STIP1	NM_006819.2		23,655,5820	AA,AG,GG		6.9002,2.4534,5.394		437/544	63970625	701,12295	2201	4297	6498	SO:0001819	synonymous_variant	10963	9521	121412	72				g.chr11:63970625G>A	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.1311G>A	chr11.hg19:g.63970625G>A		0					STIP1_ENST00000358794.5_Silent_p.A484A|STIP1_ENST00000538945.1_Silent_p.A413A	p.A437A	NM_006819.2	NP_006810.1	1	2	3	1.991067	P31948	STIP1_HUMAN		12	1458	+			B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	1	0	hg19	c.1311G>A	CCDS8058.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	0	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-1.078929	0	0.170000	NM_006819			84	83		324	320	1		1	1		0	0	95	0		1	1	0	186	0	367	0	84	324
FERMT3	83706	broad.mit.edu	37	11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	126					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662																																						ENST00000279227.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(376-378)gCc>gTc		fermitin family member 3							50.0	58.0	55.0					11																	63978299		2201	4297	6498	SO:0001583	missense	83706	0	0					g.chr11:63978299C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.377C>T	chr11.hg19:g.63978299C>T	ENSP00000279227:p.Ala126Val	0					FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	p.A126V	NM_178443.2	NP_848537.1	1	2	3	1.991067	Q86UX7	URP2_HUMAN		3	472	+			Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	1	1	hg19	c.377C>T	CCDS8060.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449334	0.43531	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.14640	2.49;2.49;2.49	3.68	0.445	0.16597	3.68	0.445	0.16597	Band 4.1 domain (1);	0.159347	0.42964	D	0.000624	T	0.09512	0.0234	L	0.38175	1.15	0.32276	N	0.568278	B;B	0.19445	0.036;0.008	B;B	0.25140	0.058;0.011	T	0.14062	-1.0486	10	0.31617	T	0.26	-11.6903	6.2277	0.20718	0.6032:0.2977:0.0:0.0991	.	126;126	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	126	ENSP00000445778:A126V;ENSP00000339950:A126V;ENSP00000279227:A126V	ENSP00000279227:A126V	A	+	2	0	0	FERMT3	63734875	63734875	1.000000	0.71417	0.816000	0.32577	0.992000	0.81027	1.490000	0.35573	0.004000	0.14682	0.555000	0.69702	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	1	0	1		2	2	2	0		0	0	119		119	117	1	2.060000	-3.268330	1	0.170000	NM_031471			120	119		547	534	1		1	1		0	0	119	0		1	1	0	6	0	127	0	120	547
FERMT3	83706	broad.mit.edu	37	11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	468	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716																																						ENST00000279227.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1402-1404)aGc>aTc		fermitin family member 3							12.0	15.0	14.0					11																	63987987		2184	4270	6454	SO:0001583	missense	83706	0	0					g.chr11:63987987G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1403G>T	chr11.hg19:g.63987987G>T	ENSP00000279227:p.Ser468Ile	0					FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	p.S468I	NM_178443.2	NP_848537.1	1	2	3	1.991067	Q86UX7	URP2_HUMAN		12	1498	+			Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	1	1	hg19	c.1403G>T	CCDS8060.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944161|0.944161	0.18281|0.18281	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|T;T	0.56941|0.71579	0.43|-0.58;-0.58	4.31|4.31	4.31|4.31	0.51392|0.51392	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (2);	.|0.149940	.|0.64402	.|D	.|0.000020	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.50333|0.50333	1.59|1.59	0.47245|0.47245	D|D	0.999366|0.999366	.|P;P	.|0.46277	.|0.875;0.753	.|P;P	.|0.48795	.|0.454;0.59	T|T	0.71764|0.71764	-0.4494|-0.4494	7|10	0.49607|0.46703	T|T	0.09|0.11	-27.66|-27.66	12.5477|12.5477	0.56210|0.56210	0.0:0.1693:0.8307:0.0|0.0:0.1693:0.8307:0.0	.|.	.|464;468	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|I	27|464;468	ENSP00000440209:A27S|ENSP00000339950:S464I;ENSP00000279227:S468I	ENSP00000440209:A27S|ENSP00000279227:S468I	A|S	+|+	1|2	0|0	0|0	FERMT3|FERMT3	63744563|63744563	63744563|63744563	0.055000|0.055000	0.20627|0.20627	0.983000|0.983000	0.44433|0.44433	0.057000|0.057000	0.15508|0.15508	1.991000|1.991000	0.40727|0.40727	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	GCG|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_031471			28	28		88	85	1		1	0		0	0	17	0		1	9.999987e-01	0	1	0	76	0	28	88
PLCB3	5331	broad.mit.edu	37	11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	57					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682																																						ENST00000540288.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(169-171)cCc>cAc		phospholipase C, beta 3 (phosphatidylinositol-specific)							133.0	124.0	127.0					11																	64021957		2201	4297	6498	SO:0001583	missense	5331	0	0					g.chr11:64021957C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.170C>A	chr11.hg19:g.64021957C>A	ENSP00000443631:p.Pro57His	0					PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	p.P57H	NM_000932.2	NP_000923.1	1	2	3	1.991067	Q01970	PLCB3_HUMAN		2	273	+			A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	1	1	hg19	c.170C>A	CCDS8064.1	1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690530	0.48097	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	4.37	4.37	0.52481	.	2.609590	0.03948	N	0.288080	T	0.48003	0.1476	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.49752	0.621	T	0.32613	-0.9900	10	0.72032	D	0.01	.	14.2399	0.65950	0.0:1.0:0.0:0.0	.	57	Q01970	PLCB3_HUMAN	H	57	ENSP00000279230:P57H;ENSP00000443631:P57H	ENSP00000279230:P57H	P	+	2	0	0	PLCB3	63778533	63778533	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.618000	0.36954	2.139000	0.66308	0.550000	0.68814	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	1	0	1		2	2	2	0		0	0	177		177	173	1	2.060000	-3.137581	1	0.170000				186	178		754	740	1		1	1		0	0	177	0		1	9.999996e-01	0	32	0	52	0	186	754
PLCB3	5331	broad.mit.edu	37	11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	105					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612																																						ENST00000540288.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				33						c.(313-315)Acg>Gcg		phospholipase C, beta 3 (phosphatidylinositol-specific)							67.0	63.0	64.0					11																	64022436		2201	4297	6498	SO:0001583	missense	5331	0	0					g.chr11:64022436A>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.313A>G	chr11.hg19:g.64022436A>G	ENSP00000443631:p.Thr105Ala	0					PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	p.T105A	NM_000932.2	NP_000923.1	1	2	3	1.991067	Q01970	PLCB3_HUMAN		4	416	+			A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	1	1	hg19	c.313A>G	CCDS8064.1	1	.	.	.	.	.	.	.	.	.	.	a	15.77	2.930752	0.52866	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.053649	0.64402	D	0.000001	T	0.70780	0.3263	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.97	T	0.76680	-0.2870	10	0.87932	D	0	.	13.4244	0.61018	1.0:0.0:0.0:0.0	.	38;105	G5E960;Q01970	.;PLCB3_HUMAN	A	105;105;38	ENSP00000279230:T105A;ENSP00000443631:T105A;ENSP00000324660:T38A	ENSP00000279230:T105A	T	+	1	0	0	PLCB3	63779012	63779012	1.000000	0.71417	0.974000	0.42286	0.100000	0.18952	8.999000	0.93557	1.885000	0.54596	0.454000	0.30748	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000				33	31		162	161	1		1	1		0	0	36	0		1	1	0	64	0	77	0	33	162
BAD	572	broad.mit.edu	37	11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394532.3	-	1	455	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GPR137_ENST00000539851.1_5'Flank|GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|GPR137_ENST00000313074.3_5'Flank|BAD_ENST00000544785.1_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000377702.4_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	62					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652																																						ENST00000394532.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(184-186)gGa>gAa		BCL2-associated agonist of cell death							66.0	52.0	57.0					11																	64051656		2196	4283	6479	SO:0001583	missense	572	0	0					g.chr11:64051656C>T	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.185G>A	chr11.hg19:g.64051656C>T	ENSP00000378040:p.Gly62Glu	0					GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|GPR137_ENST00000313074.3_5'Flank|GPR137_ENST00000411458.1_5'Flank|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|GPR137_ENST00000377702.4_5'Flank|BAD_ENST00000544785.1_Missense_Mutation_p.G62E|GPR137_ENST00000539851.1_5'Flank	p.G62E	NM_004322.3	NP_004313.1	1	2	3	1.991067	Q92934	BAD_HUMAN		1	455	-			O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	1	1	hg19	c.185G>A	CCDS8065.1	1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898415	0.52227	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	3.84	2.92	0.33932	3.84	2.92	0.33932	.	0.452778	0.19726	N	0.107474	T	0.60573	0.2279	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.69654	0.965;0.769	T	0.61297	-0.7091	10	0.66056	D	0.02	-22.4463	7.4518	0.27242	0.0:0.8821:0.0:0.1179	.	62;62	A8MXU7;Q92934	.;BAD_HUMAN	E	62	ENSP00000378040:G62E;ENSP00000309103:G62E;ENSP00000440575:G62E;ENSP00000378039:G62E	ENSP00000309103:G62E	G	-	2	0	0	BAD	63808232	63808232	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.870000	0.28010	1.187000	0.43000	0.561000	0.74099	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-3.566496	1	0.170000	NM_032989			65	64		268	266	1		1	1		0	0	72	0		1	1	0	33	0	75	0	65	268
GPR137	56834	broad.mit.edu	37	11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000313074.3	+	1	322	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GPR137_ENST00000539851.1_Missense_Mutation_p.R73C|GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	73						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622																																						ENST00000313074.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(217-219)Cgt>Tgt		G protein-coupled receptor 137							157.0	159.0	158.0					11																	64054213		2201	4297	6498	SO:0001583	missense	56834	0	0					g.chr11:64054213C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.217C>T	chr11.hg19:g.64054213C>T	ENSP00000321698:p.Arg73Cys	0					GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Missense_Mutation_p.R73C	p.R73C	NM_020155.3	NP_064540.3	1	2	3	1.991067	Q96N19	G137A_HUMAN		1	322	+			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	1	1	hg19	c.217C>T	CCDS8066.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298482	0.81025	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.71579	1.54;-0.58;-0.35;1.54;1.54;1.54;1.54;-0.41;-0.51;1.54;1.54	4.01	3.07	0.35406	4.01	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.77315	0.4112	L	0.47716	1.5	0.58432	D	0.999993	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	0.994;0.997;0.994;1.0;0.968;0.996;0.994	T	0.77694	-0.2492	10	0.87932	D	0	-5.3832	10.5188	0.44907	0.1953:0.8047:0.0:0.0	.	73;131;79;73;73;73;73	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	C	79;131;73;73;73;73;73;73;73;73;73;73;73;73	ENSP00000445570:R79C;ENSP00000411827:R131C;ENSP00000442792:R73C;ENSP00000438716:R73C;ENSP00000446342:R73C;ENSP00000441003:R73C;ENSP00000445000:R73C;ENSP00000415698:R73C;ENSP00000321698:R73C;ENSP00000441034:R73C;ENSP00000442929:R73C	ENSP00000321698:R73C	R	+	1	0	0	GPR137	63810789	63810789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.871000	0.35750	0.561000	0.74099	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	1		2	2	2	0		0	0	277		277	274	1	2.060000	-20.000000	1	0.170000	NM_020155			243	235		1162	1135	1		1	1		0	0	277	0		1	1	0	78	0	114	0	243	1162
GPR137	56834	broad.mit.edu	37	11	64054338	64054338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000313074.3	+	1	447	c.342C>T	c.(340-342)aaC>aaT	p.N114N	GPR137_ENST00000539851.1_Silent_p.N114N|GPR137_ENST00000438980.2_Silent_p.N114N|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000377702.4_Silent_p.N114N	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	114						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTATGAACCTCTACTTTG	0.617																																						ENST00000313074.3	1.000000	0.260000	5.100000e-01	3.200000e-01	0.400000	0.436316	0.400000	0.400000																										0				10						c.(340-342)aaC>aaT		G protein-coupled receptor 137							77.0	79.0	78.0					11																	64054338		2201	4297	6498	SO:0001819	synonymous_variant	56834	0	0					g.chr11:64054338C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.342C>T	chr11.hg19:g.64054338C>T		0					GPR137_ENST00000438980.2_Silent_p.N114N|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.N172N|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.N114N|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.N114N	p.N114N	NM_020155.3	NP_064540.3	1	2	3	1.991067	Q96N19	G137A_HUMAN		1	447	+			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	1	1	hg19	c.342C>T	CCDS8066.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	0	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-19.644740	1	0.170000	NM_020155			23	23		655	646	0		1	1		0	0	143	0		9.999992e-01	9.773309e-01	0	7	0	168	0	23	655
GPR137	56834	broad.mit.edu	37	11	64055662	64055662	+	Silent	SNP	C	C	T	rs571034209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000313074.3	+	4	864	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GPR137_ENST00000539851.1_Silent_p.Y253Y|GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000377702.4_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	253						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.0					ENST00000313074.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(757-759)taC>taT		G protein-coupled receptor 137							84.0	83.0	83.0					11																	64055662		2201	4297	6498	SO:0001819	synonymous_variant	56834	6	121412	41				g.chr11:64055662C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.759C>T	chr11.hg19:g.64055662C>T		0					GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000539851.1_Silent_p.Y253Y	p.Y253Y	NM_020155.3	NP_064540.3	1	2	3	1.991067	Q96N19	G137A_HUMAN		4	864	+			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	1	1	hg19	c.759C>T	CCDS8066.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_020155			99	99		486	477	1		1	1		0	0	120	0		1	1	0	20	0	126	0	99	486
GPR137	56834	broad.mit.edu	37	11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000313074.3	+	6	1058	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GPR137_ENST00000539851.1_Intron|GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	318						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617																																						ENST00000313074.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999352	0.990000	1.000000																										0				10						c.(952-954)cGg>cAg		G protein-coupled receptor 137							83.0	67.0	73.0					11																	64056115		2198	4297	6495	SO:0001583	missense	56834	1	121346	31				g.chr11:64056115G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.953G>A	chr11.hg19:g.64056115G>A	ENSP00000321698:p.Arg318Gln	0					KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q|GPR137_ENST00000539851.1_Intron	p.R318Q	NM_020155.3	NP_064540.3	1	2	3	1.991067	Q96N19	G137A_HUMAN		6	1058	+			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	1	1	hg19	c.953G>A	CCDS8066.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103582	0.56291	.	.	ENSG00000173264	ENST00000411458;ENST00000377702;ENST00000438980;ENST00000313074	T;T;T	0.58652	0.32;0.41;0.36	4.84	2.87	0.33458	4.84	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.45352	1.415	0.80722	D	1	P;D;P;D	0.71674	0.938;0.998;0.883;0.978	B;P;B;P	0.56563	0.364;0.801;0.235;0.457	T	0.58272	-0.7665	10	0.66056	D	0.02	-8.6912	6.3244	0.21234	0.0975:0.0:0.7238:0.1787	.	376;318;318;268	B4DTG7;Q96N19-2;Q96N19;Q96N19-3	.;.;G137A_HUMAN;.	Q	376;268;318;318	ENSP00000411827:R376Q;ENSP00000415698:R318Q;ENSP00000321698:R318Q	ENSP00000321698:R318Q	R	+	2	0	0	GPR137	63812691	63812691	0.998000	0.40836	0.993000	0.49108	0.863000	0.49368	6.880000	0.75578	1.029000	0.39812	0.462000	0.41574	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	0		11	2	2	0		0	1	28		28	28	1	2.060000	-3.470224	1	0.170000	NM_020155			15	14		72	70	1		1	1		0	0	28	0		8.251788e-01	9.999996e-01	0	42	0	112	0	15	72
KCNK4	50801	broad.mit.edu	37	11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141					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)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632																																						ENST00000539216.1	1.000000	0.350000	7.400000e-01	4.500000e-01	0.570000	0.601889	0.570000	0.560000																										0				10						c.(421-423)cGg>cAg		potassium channel, subfamily K, member 4							46.0	48.0	47.0					11																	64064699		2201	4297	6498	SO:0001583	missense	50801	0	0					g.chr11:64064699G>A	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.422G>A	chr11.hg19:g.64064699G>A	ENSP00000444948:p.Arg141Gln	0					RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000539651.1_3'UTR	p.R141Q			1	2	3	1.991067	Q9NYG8	KCNK4_HUMAN		3	782	+			B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	1	1	hg19	c.422G>A	CCDS8067.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770476|2.770476	0.49680|0.49680	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.36|5.36	4.25|4.25	0.50352|0.50352	5.36|5.36	4.25|4.25	0.50352|0.50352	.|Ion transport 2 (1);	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.05012|0.05012	-0.13|-0.13	0.38410|0.38410	D|D	0.945908|0.945908	B;B|B	0.14438|0.21905	0.01;0.01|0.062	B;B|B	0.10450|0.28784	0.005;0.005|0.094	T|T	0.16188|0.16188	-1.0411|-1.0411	8|10	0.87932|0.10111	D|T	0|0.7	.|.	8.2058|8.2058	0.31454|0.31454	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	114;75|141	B4DJC9;F5GYE0|Q9NYG8	.;.|KCNK4_HUMAN	S|Q	75|141;166;141;203;141	.|ENSP00000402797:R141Q;ENSP00000378033:R141Q;ENSP00000444948:R141Q	ENSP00000446454:G75S|ENSP00000378033:R141Q	G|R	+|+	1|2	0|0	0|0	KCNK4|KCNK4	63821275|63821275	63821275|63821275	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.977000|0.977000	0.68977|0.68977	5.891000|5.891000	0.69782|0.69782	2.521000|2.521000	0.84997|0.84997	0.555000|0.555000	0.69702|0.69702	GGC|CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	1	0	1		2	2	2	0		0	0	64		64	58	1	2.060000	-3.231053	1	0.170000	NM_033311			18	18		358	347	0		1			0	0	64	0		9.999782e-01	0	0	0	0	0	0	18	358
ESRRA	2101	broad.mit.edu	37	11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000406310.1_Splice_Site|ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	192					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592																																						ENST00000405666.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(574-576)Gcc>Acc		estrogen-related receptor alpha							62.0	64.0	63.0					11																	64082215		2084	4217	6301	SO:0001583	missense	2101	0	0					g.chr11:64082215G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.574G>A	chr11.hg19:g.64082215G>A	ENSP00000384851:p.Ala192Thr	0					ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site	p.A192T	NM_001282450.1	NP_001269379.1	1	2	3	1.991067	P11474	ERR1_HUMAN		5	808	+			Q14514	Missense_Mutation	SNP	ENST00000405666.1	0	1	hg19	c.574G>A	CCDS41667.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657433|1.657433	0.29425|0.29425	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000406310|ENST00000000442;ENST00000539594;ENST00000405666	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	3.88|3.88	3.88|3.88	0.44766|0.44766	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Nuclear hormone receptor, ligand-binding (2);	.|0.000000	.|0.46442	.|D	.|0.000292	.|T	.|0.20981	.|0.0505	N|N	0.22421|0.22421	0.69|0.69	0.33007|0.33007	D|D	0.526971|0.526971	.|P	.|0.41524	.|0.753	.|B	.|0.28553	.|0.091	.|T	.|0.43278	.|-0.9401	.|10	.|0.62326	.|D	.|0.03	.|.	13.73|13.73	0.62781|0.62781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|P11474	.|ERR1_HUMAN	.|T	-1|192;49;192	.|ENSP00000000442:A192T;ENSP00000439896:A49T;ENSP00000384851:A192T	.|ENSP00000000442:A192T	.|A	+|+	.|1	.|0	.|0	ESRRA|ESRRA	63838791|63838791	63838791|63838791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.615000|0.615000	0.37417|0.37417	4.517000|4.517000	0.60503|0.60503	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	.|GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.567634	1	0.170000	NM_004451			47	46		195	193	1		1	1		0	0	52	0		1	1	0	77	0	101	0	47	195
ESRRA	2101	broad.mit.edu	37	11	64082498	64082498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000406310.1_Silent_p.D255D|ESRRA_ENST00000000442.6_Silent_p.D256D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	256	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667																																						ENST00000405666.1	1.000000	0.390000	1	6.100000e-01	0.910000	0.838431	0.910000	1.000000																										0				14						c.(766-768)gaC>gaT		estrogen-related receptor alpha							13.0	14.0	14.0					11																	64082498		2086	4214	6300	SO:0001819	synonymous_variant	2101	0	0					g.chr11:64082498C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.768C>T	chr11.hg19:g.64082498C>T		0					ESRRA_ENST00000000442.6_Silent_p.D256D|ESRRA_ENST00000406310.1_Silent_p.D255D	p.D256D	NM_001282450.1	NP_001269379.1	1	2	3	1.991067	P11474	ERR1_HUMAN		6	1002	+			Q14514	Silent	SNP	ENST00000405666.1	0	1	hg19	c.768C>T	CCDS41667.1	1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408958	0.11812	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	1.23	0.21249	4.14	1.23	0.21249	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	7.5808	0.27963	0.0:0.6945:0.0:0.3055	.	.	.	.	I	37	.	.	T	+	2	0	0	ESRRA	63839074	63839074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.594000	0.36697	0.512000	0.28257	0.462000	0.41574	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-11.130000	1	0.170000	NM_004451			6	6		75	74	0		1	1		0	0	16	0		9.655769e-01	9.992991e-01	0	12	0	198	0	6	75
CCDC88B	283234	broad.mit.edu	37	11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	235						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642																																						ENST00000356786.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(703-705)gAa>gCa		coiled-coil domain containing 88B							31.0	30.0	30.0					11																	64109494		2201	4297	6498	SO:0001583	missense	283234	0	0					g.chr11:64109494A>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.704A>C	chr11.hg19:g.64109494A>C	ENSP00000349238:p.Glu235Ala	0					CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	p.E235A	NM_032251.5	NP_115627.6	1	2	3	1.991067	A6NC98	CC88B_HUMAN		8	748	+			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	1	1	hg19	c.704A>C	CCDS8072.2	1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504144	0.44558	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.35048	1.33	3.96	2.83	0.33086	3.96	2.83	0.33086	.	.	.	.	.	T	0.34832	0.0911	M	0.69358	2.11	0.09310	N	0.999999	B;B	0.21606	0.058;0.058	B;B	0.22152	0.038;0.038	T	0.35325	-0.9793	9	0.62326	D	0.03	.	6.0024	0.19527	0.8807:0.0:0.1193:0.0	.	235;235	B2RTU8;A6NC98	.;CC88B_HUMAN	A	235	ENSP00000349238:E235A	ENSP00000349238:E235A	E	+	2	0	0	CCDC88B	63866070	63866070	0.090000	0.21635	0.001000	0.08648	0.263000	0.26337	2.591000	0.46163	0.718000	0.32166	0.359000	0.22050	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_032251			39	39		177	175	1		1	0		0	0	49	0		1	5.090736e-01	0	0	0	9	0	39	177
CCDC88B	283234	broad.mit.edu	37	11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657																																						ENST00000356786.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				27						c.(1507-1509)gaG>gaT		coiled-coil domain containing 88B							37.0	39.0	38.0					11																	64111522		2200	4297	6497	SO:0001583	missense	283234	0	0					g.chr11:64111522G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1509G>T	chr11.hg19:g.64111522G>T	ENSP00000349238:p.Glu503Asp	0					CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	p.E503D	NM_032251.5	NP_115627.6	1	2	3	1.991067	A6NC98	CC88B_HUMAN		14	1553	+			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	1	1	hg19	c.1509G>T	CCDS8072.2	1	.	.	.	.	.	.	.	.	.	.	g	9.265	1.044196	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23147	1.92	3.19	-4.77	0.03219	3.19	-4.77	0.03219	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.25169	0.094;0.119;0.094	B;B;B	0.19666	0.026;0.024;0.026	T	0.26155	-1.0111	9	0.59425	D	0.04	.	3.9414	0.09329	0.2302:0.0:0.2344:0.5354	.	503;152;503	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	503	ENSP00000349238:E503D	ENSP00000349238:E503D	E	+	3	2	2	CCDC88B	63868098	63868098	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.247000	0.08866	-0.922000	0.03789	0.456000	0.33151	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_032251			48	47		256	255	1		1	0		0	0	72	0		1	5.403244e-01	0	1	0	10	0	48	256
RPS6KA4	8986	broad.mit.edu	37	11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000334205.4	+	9	978	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.D305N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	305	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597																																						ENST00000334205.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(913-915)Gat>Aat		ribosomal protein S6 kinase, 90kDa, polypeptide 4							61.0	62.0	62.0					11																	64132779		2201	4297	6498	SO:0001583	missense	8986	2	121412	37				g.chr11:64132779G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.913G>A	chr11.hg19:g.64132779G>A	ENSP00000333896:p.Asp305Asn	0					RPS6KA4_ENST00000528057.1_Missense_Mutation_p.D305N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N	p.D305N	NM_003942.2	NP_003933.1	1	2	3	1.991067	O75676	KS6A4_HUMAN		9	978	+			A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	1	1	hg19	c.913G>A	CCDS8073.1	1	.	.	.	.	.	.	.	.	.	.	g	5.355	0.250875	0.10130	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	5.05	0.67936	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.052494	0.64402	D	0.000001	T	0.39332	0.1074	N	0.17474	0.49	0.41103	D	0.985687	B;B;B;B	0.25169	0.037;0.119;0.045;0.037	B;B;B;B	0.15484	0.011;0.008;0.008;0.013	T	0.28073	-1.0055	10	0.12430	T	0.62	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	305;305;305;305	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	305;305;305;289	ENSP00000435580:D305N;ENSP00000333896:D305N;ENSP00000294261:D305N;ENSP00000432945:D289N	ENSP00000294261:D305N	D	+	1	0	0	RPS6KA4	63889355	63889355	1.000000	0.71417	0.984000	0.44739	0.049000	0.14656	5.253000	0.65452	2.363000	0.80096	0.471000	0.43371	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.347448	1	0.170000	NM_003942			50	49		254	249	1		1	1		0	0	68	0		1	9.999980e-01	0	27	0	75	0	50	254
RPS6KA4	8986	broad.mit.edu	37	11	64137088	64137088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000334205.4	+	13	1664	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Silent_p.P526P|RPS6KA4_ENST00000294261.4_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	533	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711																																						ENST00000334205.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				13						c.(1597-1599)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 4							15.0	16.0	15.0					11																	64137088		2173	4247	6420	SO:0001819	synonymous_variant	8986	0	0					g.chr11:64137088G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1599G>A	chr11.hg19:g.64137088G>A		0					RPS6KA4_ENST00000528057.1_Silent_p.P526P|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron	p.P533P	NM_003942.2	NP_003933.1	1	2	3	1.991067	O75676	KS6A4_HUMAN		13	1664	+			A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	0	1	hg19	c.1599G>A	CCDS8073.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	NM_003942			25	25		98	91	0		1	1		0	0	13	0		9.999999e-01	1	0	30	0	118	0	25	98
RPS6KA4	8986	broad.mit.edu	37	11	64137787	64137787	+	Missense_Mutation	SNP	G	G	A	rs200894902	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137787G>A	ENST00000334205.4	+	15	1953	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.E623K|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E382K	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	630	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CAAAATCCGCGAGGGGCGCTT	0.652																																						ENST00000334205.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1888-1890)Gag>Aag		ribosomal protein S6 kinase, 90kDa, polypeptide 4							47.0	56.0	53.0					11																	64137787		2201	4295	6496	SO:0001583	missense	8986	0	0					g.chr11:64137787G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1888G>A	chr11.hg19:g.64137787G>A	ENSP00000333896:p.Glu630Lys	0					RPS6KA4_ENST00000528057.1_Missense_Mutation_p.E623K|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E382K	p.E630K	NM_003942.2	NP_003933.1	1	2	3	1.991067	O75676	KS6A4_HUMAN		15	1953	+			A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	1	0	hg19	c.1888G>A	CCDS8073.1	1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.111137	0.56398	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.64803	-0.12;-0.12;1.13;-0.12	4.3	4.3	0.51218	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057561	0.64402	D	0.000002	T	0.33206	0.0855	N	0.04018	-0.295	0.25441	N	0.988093	B;B;B;B	0.32350	0.366;0.233;0.206;0.172	B;B;B;B	0.25140	0.019;0.058;0.018;0.036	T	0.15065	-1.0450	10	0.32370	T	0.25	.	8.1795	0.31302	0.1134:0.0:0.8866:0.0	.	382;623;630;624	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	K	623;630;382;608	ENSP00000435580:E623K;ENSP00000333896:E630K;ENSP00000294261:E382K;ENSP00000432945:E608K	ENSP00000294261:E382K	E	+	1	0	0	RPS6KA4	63894363	63894363	0.998000	0.40836	0.999000	0.59377	0.929000	0.56500	2.285000	0.43487	1.943000	0.56356	0.484000	0.47621	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-3.320729	1	0.170000	NM_003942			87	85		470	459	1		1	1		0	0	106	0		1	9.999538e-01	0	11	0	68	0	87	470
RPS6KA4	8986	broad.mit.edu	37	11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A	rs200411554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000334205.4	+	17	2331	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I	MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V749I|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	756	Required for nuclear targeting and association with MAPK14.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731																																						ENST00000334205.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2266-2268)Gtc>Atc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							7.0	9.0	8.0					11																	64138899		1787	3517	5304	SO:0001583	missense	8986	3	114256	26				g.chr11:64138899G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2266G>A	chr11.hg19:g.64138899G>A	ENSP00000333896:p.Val756Ile	0					RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V749I|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I	p.V756I	NM_003942.2	NP_003933.1	1	2	3	1.991067	O75676	KS6A4_HUMAN		17	2331	+			A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	1	1	hg19	c.2266G>A	CCDS8073.1	1	.	.	.	.	.	.	.	.	.	.	g	0.411	-0.913058	0.02415	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.25	1.68	0.63	0.17693	1.68	0.63	0.17693	.	0.408805	0.18438	U	0.141220	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22604	0.0;0.071;0.043;0.072	B;B;B;B	0.08055	0.0;0.002;0.001;0.003	T	0.29150	-1.0021	10	0.87932	D	0	.	7.2917	0.26370	0.319:0.0:0.681:0.0	.	508;749;756;750	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	I	749;756;508	ENSP00000435580:V749I;ENSP00000333896:V756I;ENSP00000294261:V508I	ENSP00000294261:V508I	V	+	1	0	0	RPS6KA4	63895475	63895475	0.006000	0.16342	0.002000	0.10522	0.016000	0.09150	0.268000	0.18571	-0.629000	0.05575	-1.786000	0.00637	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1		2	2	2	0		0	0	20		20	16	1	2.060000	-20.000000	1	0.170000	NM_003942			43	36		147	134	0		1	1		0	0	20	0		1	9.831365e-01	0	9	0	16	0	43	147
SLC22A12	116085	broad.mit.edu	37	11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A	rs201567912		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377574.1	+	1	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	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)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCAGTGCCGCCGCTTCCGC	0.667																																						ENST00000377574.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(265-267)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 12	Losartan(DB00678)|Probenecid(DB01032)						23.0	27.0	26.0					11																	64359294		2196	4294	6490	SO:0001583	missense	116085	2	121260	29				g.chr11:64359294G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.266G>A	chr11.hg19:g.64359294G>A	ENSP00000366797:p.Arg89His	0					SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H	p.R89H	NM_144585.2	NP_653186.2	1	2	3	1.991067	Q96S37	S22AC_HUMAN		1	1013	+			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	1	1	hg19	c.266G>A	CCDS8075.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.530	1.110479	0.20714	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	-3.38	0.04883	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.14399	0.0348	L	0.58354	1.805	0.20196	N	0.999926	P;P;P;P	0.49253	0.809;0.809;0.921;0.809	B;B;B;B	0.43194	0.106;0.106;0.411;0.106	T	0.19679	-1.0298	10	0.28530	T	0.3	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	89	ENSP00000366790:R89H;ENSP00000366797:R89H;ENSP00000366795:R89H;ENSP00000336836:R89H	ENSP00000336836:R89H	R	+	2	0	0	SLC22A12	64115870	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_144585			51	50		250	240	1		1			0	0	48	0		1	0	0	0	0	0	0	51	250
NRXN2	9379	broad.mit.edu	37	11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000377551.1	-	22	5292	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1694					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)			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						CTTGGGGGCAGCCGGGGCCTT	0.612																																						ENST00000377551.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				71						c.(5080-5082)gCt>gTt		neurexin 2							39.0	44.0	42.0					11																	64374726		2201	4297	6498	SO:0001583	missense	9379	0	0					g.chr11:64374726G>A		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.5081C>T	chr11.hg19:g.64374726G>A	ENSP00000366774:p.Ala1694Val	0					NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V	p.A1694V			1	2	3	1.991067	Q9P2S2	NRX2A_HUMAN		22	5292	-			A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	1	1	hg19	c.5081C>T	CCDS8077.1	1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197830	0.09652	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62498	0.52;0.02;0.07;0.02;0.12	4.46	3.53	0.40419	4.46	3.53	0.40419	.	0.516541	0.15138	U	0.278438	T	0.47655	0.1457	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.35139	0.486;0.014;0.021;0.263	B;B;B;B	0.40565	0.333;0.017;0.014;0.071	T	0.44528	-0.9322	10	0.56958	D	0.05	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1624;1694;1440;648	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	648;1694;1624;1694;1624;1687	ENSP00000301894:A648V;ENSP00000366774:A1694V;ENSP00000366782:A1624V;ENSP00000265459:A1694V;ENSP00000386416:A1687V	ENSP00000265459:A1694V	A	-	2	0	0	NRXN2	64131302	64131302	1.000000	0.71417	0.067000	0.19924	0.111000	0.19643	5.981000	0.70524	2.033000	0.60031	0.313000	0.20887	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.339300	1	0.170000	NM_015080			33	33		182	177	1		1	0		0	0	34	0		1	9.959101e-01	0	0	0	50	0	33	182
NRXN2	9379	broad.mit.edu	37	11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000377551.1	-	14	3311	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N			Q9P2S2	NRX2A_HUMAN	neurexin 2	1034	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)			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						CCTTTGAGATCGAGGTTTCGG	0.632																																						ENST00000377551.1	1.000000	0.210000	4.300000e-01	2.700000e-01	0.340000	0.371505	0.340000	0.330000																										0				71						c.(3100-3102)Gat>Aat		neurexin 2							151.0	137.0	142.0					11																	64417929		2201	4297	6498	SO:0001583	missense	9379	0	0					g.chr11:64417929C>T		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.3100G>A	chr11.hg19:g.64417929C>T	ENSP00000366774:p.Asp1034Asn	0					NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|AP001092.4_ENST00000433606.1_RNA	p.D1034N			1	2	3	1.991067	Q9P2S2	NRX2A_HUMAN		14	3311	-			A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	1	1	hg19	c.3100G>A	CCDS8077.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.254449	0.95336	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.49	4.49	0.54785	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000577	D	0.83096	0.5180	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.84949	0.0870	10	0.87932	D	0	.	15.0551	0.71908	0.0:1.0:0.0:0.0	.	994;1034;780	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1034;994;1034;994;1027	ENSP00000366774:D1034N;ENSP00000366782:D994N;ENSP00000265459:D1034N;ENSP00000386416:D1027N	ENSP00000265459:D1034N	D	-	1	0	0	NRXN2	64174505	64174505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.488000	0.83962	0.655000	0.94253	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.060779	1	0.170000	NM_015080			22	22		755	738	0		1	0		0	0	123	0		9.999983e-01	1.709932e-02	0	0	0	7	0	22	755
RASGRP2	10235	broad.mit.edu	37	11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000354024.3	-	9	1096	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377494.1_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	282	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)			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						TTGCCTGTCGCCGTCACTAGT	0.607																																						ENST00000354024.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(844-846)Gcg>Acg		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							40.0	40.0	40.0					11																	64504476		2201	4297	6498	SO:0001583	missense	10235	0	0					g.chr11:64504476C>T	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.844G>A	chr11.hg19:g.64504476C>T	ENSP00000338864:p.Ala282Thr	0					RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377494.1_Missense_Mutation_p.A282T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T	p.A282T	NM_153819.1	NP_722541.1	1	2	3	1.991067	Q7LDG7	GRP2_HUMAN		9	1096	-			A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	1	1	hg19	c.844G>A	CCDS31598.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699499	0.48307	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.12	5.12	0.69794	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.119837	0.56097	D	0.000027	T	0.19725	0.0474	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.04140	-1.0974	10	0.87932	D	0	-6.3758	11.5176	0.50532	0.1792:0.8208:0.0:0.0	.	282;282	Q7LDG7;A6NDC7	GRP2_HUMAN;.	T	282	ENSP00000366714:A282T;ENSP00000377953:A282T;ENSP00000366717:A282T;ENSP00000338864:A282T	ENSP00000338864:A282T	A	-	1	0	0	RASGRP2	64261052	64261052	0.993000	0.37304	0.929000	0.37066	0.395000	0.30598	3.158000	0.50723	2.550000	0.86006	0.579000	0.79373	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_153819			38	37		109	109	1		1	0		0	0	43	0		1	9.613303e-01	0	0	0	18	0	38	109
PYGM	5837	broad.mit.edu	37	11	64518041	64518041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518041C>A	ENST00000164139.3	-	17	2382	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	PYGM_ENST00000377432.3_Missense_Mutation_p.D574Y|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	662					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGAGGTCTGCAGCTGGG	0.607																																						ENST00000164139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1984-1986)Gac>Tac		phosphorylase, glycogen, muscle							57.0	50.0	52.0					11																	64518041		2201	4297	6498	SO:0001583	missense	5837	0	0					g.chr11:64518041C>A		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.1984G>T	chr11.hg19:g.64518041C>A	ENSP00000164139:p.Asp662Tyr	0					PYGM_ENST00000377432.3_Missense_Mutation_p.D574Y|PYGM_ENST00000462303.1_5'Flank	p.D662Y	NM_005609.2	NP_005600.1	1	2	3	1.991067	P11217	PYGM_HUMAN		17	2382	-			A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	1	0	hg19	c.1984G>T	CCDS8079.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445024	0.83993	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98602	-3.64;-5.02	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.53938	D	0.000053	D	0.99423	0.9796	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98100	1.0414	10	0.87932	D	0	-43.9903	15.638	0.76970	0.0:1.0:0.0:0.0	.	574;662	A6NDY6;P11217	.;PYGM_HUMAN	Y	574;662;643	ENSP00000366650:D574Y;ENSP00000164139:D662Y	ENSP00000164139:D662Y	D	-	1	0	0	PYGM	64274617	64274617	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	7.616000	0.83018	2.564000	0.86499	0.555000	0.69702	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_005609			55	54		254	251	0		1	0		0	0	80	0		1	1.520479e-01	0	0	0	4	0	55	254
PYGM	5837	broad.mit.edu	37	11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000377432.3_Missense_Mutation_p.A538S|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	626					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCGATGGCTGTGACGAGT	0.607																																						ENST00000164139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1876-1878)Gcc>Tcc		phosphorylase, glycogen, muscle							102.0	103.0	102.0					11																	64518890		2201	4297	6498	SO:0001583	missense	5837	0	0					g.chr11:64518890C>A		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.1876G>T	chr11.hg19:g.64518890C>A	ENSP00000164139:p.Ala626Ser	0					PYGM_ENST00000377432.3_Missense_Mutation_p.A538S|PYGM_ENST00000462303.1_5'UTR	p.A626S	NM_005609.2	NP_005600.1	1	2	3	1.991067	P11217	PYGM_HUMAN		16	2274	-			A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	1	1	hg19	c.1876G>T	CCDS8079.1	1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349894	0.11182	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92911	-2.98;-3.13	5.16	3.12	0.35913	5.16	3.12	0.35913	.	0.221691	0.32372	N	0.006195	T	0.78729	0.4329	N	0.04724	-0.175	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.20767	0.021;0.031	T	0.70985	-0.4723	10	0.02654	T	1	-21.054	10.5174	0.44898	0.4743:0.5257:0.0:0.0	.	538;626	A6NDY6;P11217	.;PYGM_HUMAN	S	538;626;607	ENSP00000366650:A538S;ENSP00000164139:A626S	ENSP00000164139:A626S	A	-	1	0	0	PYGM	64275466	64275466	0.001000	0.12720	0.981000	0.43875	0.947000	0.59692	-0.092000	0.11129	1.381000	0.46364	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_005609			67	66		293	287	1		1	0		0	0	85	0		1	3.570613e-02	0	0	0	2	0	67	293
SF1	7536	broad.mit.edu	37	11	64536602	64536602	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000422298.2_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458																																						ENST00000377390.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.e8-1		splicing factor 1							107.0	112.0	110.0					11																	64536602		2201	4297	6498	SO:0001630	splice_region_variant	7536	0	0					g.chr11:64536602C>T	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.780-1G>A	chr11.hg19:g.64536602C>T		0					SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000377394.3_Splice_Site		NM_004630.3	NP_004621.2	1	2	3	1.991067	Q15637	SF01_HUMAN		8	1117	-			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	SNP	ENST00000377390.3	1	1	hg19		CCDS31599.1	1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810024	0.70797	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5751	0.87946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SF1	64293178	64293178	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.260000	0.78391	2.752000	0.94435	0.557000	0.71058	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-3.104676	1	0.170000	NM_004630	Intron		96	94		376	368	1		1	0		0	0	102	0		1	0	0	0	0	1	0	96	376
SF1	7536	broad.mit.edu	37	11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000377390.3	-	4	627	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000422298.2_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	97					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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537																																						ENST00000377390.3	1.000000	0.770000	1	8.800000e-01	0.990000	0.958068	0.990000	1.000000																										0				31						c.(289-291)cGa>cAa		splicing factor 1							118.0	117.0	117.0					11																	64537827		2201	4297	6498	SO:0001583	missense	7536	0	0					g.chr11:64537827C>T	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.290G>A	chr11.hg19:g.64537827C>T	ENSP00000366607:p.Arg97Gln	0					SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q	p.R97Q	NM_004630.3	NP_004621.2	1	2	3	1.991067	Q15637	SF01_HUMAN		4	627	-			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	1	1	hg19	c.290G>A	CCDS31599.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698736	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.64618	-0.11;-0.02;0.0;0.18;-0.05;-0.01	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;P;D;D	0.69654	0.965;0.935;0.903;0.955;0.955	D	0.85181	0.1004	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	97;97;97;97;222	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	Q	222;97;97;97;97;71	ENSP00000366604:R222Q;ENSP00000366607:R97Q;ENSP00000227503:R97Q;ENSP00000366611:R97Q;ENSP00000334414:R97Q;ENSP00000396793:R71Q	ENSP00000227503:R97Q	R	-	2	0	0	SF1	64294403	64294403	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.264000	0.78432	2.748000	0.94277	0.462000	0.41574	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.142702	1	0.170000	NM_004630			55	54		589	583	0		1	1		0	0	119	0		1	1	0	9	0	330	0	55	589
MAP4K2	5871	broad.mit.edu	37	11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	549	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647																																						ENST00000294066.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1645-1647)Cac>Tac		mitogen-activated protein kinase kinase kinase kinase 2							73.0	74.0	73.0					11																	64563851		2201	4297	6498	SO:0001583	missense	5871	0	0					g.chr11:64563851G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1645C>T	chr11.hg19:g.64563851G>A	ENSP00000294066:p.His549Tyr	0					MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	p.H549Y	NM_004579.3	NP_004570.2	1	2	3	1.991067	Q12851	M4K2_HUMAN		24	1736	-			Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	1	1	hg19	c.1645C>T	CCDS8082.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191818	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.31	4.31	0.51392	4.31	4.31	0.51392	Citron-like (3);	0.292538	0.33712	N	0.004633	T	0.06554	0.0168	N	0.21194	0.64	0.37448	D	0.914713	P;D	0.53619	0.925;0.961	P;P	0.51701	0.53;0.677	T	0.51576	-0.8688	10	0.27785	T	0.31	.	12.1955	0.54294	0.0:0.0:1.0:0.0	.	541;549	Q86VU3;Q12851	.;M4K2_HUMAN	Y	549;541	ENSP00000294066:H549Y;ENSP00000366567:H541Y	ENSP00000294066:H549Y	H	-	1	0	0	MAP4K2	64320427	64320427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.001000	0.63946	2.247000	0.74100	0.558000	0.71614	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	1	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_004579			62	62		268	264	1		1	1		0	0	45	0		1	9.999753e-01	0	16	0	54	0	62	268
MAP4K2	5871	broad.mit.edu	37	11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637																																						ENST00000294066.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(589-591)Gtc>Atc		mitogen-activated protein kinase kinase kinase kinase 2							103.0	105.0	104.0					11																	64568445		2201	4297	6498	SO:0001583	missense	5871	2	121410	32				g.chr11:64568445C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.589G>A	chr11.hg19:g.64568445C>T	ENSP00000294066:p.Val197Ile	0					MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	p.V197I	NM_004579.3	NP_004570.2	1	2	3	1.991067	Q12851	M4K2_HUMAN		9	680	-			Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	1	1	hg19	c.589G>A	CCDS8082.1	1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054915	0.08291	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.25579	1.79;1.79	4.66	2.76	0.32466	4.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138774	0.47852	D	0.000205	T	0.07188	0.0182	N	0.01250	-0.93	0.38384	D	0.945219	B;B	0.31625	0.332;0.278	B;B	0.34652	0.091;0.187	T	0.32107	-0.9919	10	0.02654	T	1	.	7.3691	0.26792	0.0:0.7191:0.0:0.2808	.	197;197	Q86VU3;Q12851	.;M4K2_HUMAN	I	197	ENSP00000294066:V197I;ENSP00000366567:V197I	ENSP00000294066:V197I	V	-	1	0	0	MAP4K2	64325021	64325021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.214000	0.32419	0.513000	0.28278	0.456000	0.33151	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_004579			123	122		578	574	1		1	1		0	0	131	0		1	9.851146e-01	0	4	0	29	0	123	578
MEN1	4221	broad.mit.edu	37	11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000337652.1	-	9	1807	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000377316.2_Intron|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	435					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)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	11q13	4221	D, Mis, N, F, S	multiple endocrine neoplasia type 1 gene				E	E		parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid	parathyroid tumors, Pancreatic neuroendocrine tumors		0				337						c.(1303-1305)cCt>cTt		multiple endocrine neoplasia I							90.0	77.0	82.0					11																	64572567		2201	4297	6498	SO:0001583	missense	4221	0	0		Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	g.chr11:64572567G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1304C>T	chr11.hg19:g.64572567G>A	ENSP00000337088:p.Pro435Leu	0					MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L	p.P435L	NM_130803.2	NP_570715	1	2	3	1.991067	O00255	MEN1_HUMAN		9	1807	-			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	1	1	hg19	c.1304C>T	CCDS8083.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.101372	0.94245	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.68317	2.08	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	0.97662	1.0161	10	0.87932	D	0	-17.8969	14.0916	0.64995	0.0:0.0:1.0:0.0	.	430;395;435	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	395;430;430;430;435;435;435;435;435	ENSP00000366538:P395L;ENSP00000366543:P430L;ENSP00000308975:P430L;ENSP00000323747:P430L;ENSP00000337088:P435L;ENSP00000377901:P435L;ENSP00000377899:P435L;ENSP00000396940:P435L;ENSP00000366530:P435L	ENSP00000308975:P430L	P	-	2	0	0	MEN1	64329143	64329143	1.000000	0.71417	0.898000	0.35279	0.974000	0.67602	8.435000	0.90297	2.257000	0.74773	0.456000	0.33151	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000				49	49		211	209	1		1	1		0	0	73	0		1	9.999342e-01	0	21	0	44	0	49	211
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	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)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	11q13	4221	D, Mis, N, F, S	multiple endocrine neoplasia type 1 gene				E	E		parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid	parathyroid tumors, Pancreatic neuroendocrine tumors		0				337						c.(1009-1011)cGc>cAc		multiple endocrine neoplasia I							211.0	183.0	192.0					11																	64573758		2201	4297	6498	SO:0001583	missense	4221	0	0		Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	g.chr11:64573758C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1010G>A	chr11.hg19:g.64573758C>T	ENSP00000337088:p.Arg337His	0		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H	p.R337H	NM_130803.2	NP_570715	1	2	3	1.991067	O00255	MEN1_HUMAN		7	1513	-			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	1	1	hg19	c.1010G>A	CCDS8083.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991942	0.74703	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	3.92	3.92	0.45320	3.92	3.92	0.45320	.	0.139807	0.41712	U	0.000830	D	0.98729	0.9573	L	0.43152	1.355	0.41578	D	0.988725	D;D;D	0.76494	0.999;0.991;0.999	P;P;P	0.60012	0.791;0.796;0.867	D	0.97955	1.0334	10	0.46703	T	0.11	-14.869	7.8854	0.29646	0.0:0.8839:0.0:0.1161	.	332;297;337	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	332;297;332;332;332;337;337;337;337;337;332	ENSP00000366533:R332H;ENSP00000366538:R297H;ENSP00000366543:R332H;ENSP00000308975:R332H;ENSP00000323747:R332H;ENSP00000337088:R337H;ENSP00000377901:R337H;ENSP00000377899:R337H;ENSP00000396940:R337H;ENSP00000366530:R337H;ENSP00000413944:R332H	ENSP00000308975:R332H	R	-	2	0	0	MEN1	64330334	64330334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.274000	0.43390	1.927000	0.55829	0.456000	0.33151	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0	0	1		16	4	2	1		1	1	155		155	153	1	2.060000	-20.000000	1	0.170000				153	149		557	547	1		1	1		1	0	155	0		1	9.999986e-01	0	28	0	65	0	153	557
MEN1	4221	broad.mit.edu	37	11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000337652.1	-	3	1147	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	215					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.T210fs*13(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCATTGACTGTCTGGCCCCT	0.597			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1	1.000000	0.220000	6.000000e-01	3.100000e-01	0.430000	0.467796	0.430000	0.410000			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	11q13	4221	D, Mis, N, F, S	multiple endocrine neoplasia type 1 gene				E	E		parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid	parathyroid tumors, Pancreatic neuroendocrine tumors		1	Deletion - Frameshift(1)	p.T210fs*13(1)	parathyroid(1)	337						c.(643-645)aCa>aTa		multiple endocrine neoplasia I							80.0	61.0	67.0					11																	64575388		2201	4297	6498	SO:0001583	missense	4221	1	121412	28	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	g.chr11:64575388G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.644C>T	chr11.hg19:g.64575388G>A	ENSP00000337088:p.Thr215Ile	0					MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I	p.T215I	NM_130803.2	NP_570715	1	2	3	1.991067	O00255	MEN1_HUMAN		3	1147	-			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	1	1	hg19	c.644C>T	CCDS8083.1	0	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483385	0.63962	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.128336	0.51477	D	0.000092	D	0.98432	0.9478	L	0.40543	1.245	0.51233	D	0.999918	P;P	0.37525	0.544;0.598	B;B	0.42361	0.266;0.385	D	0.99908	1.1187	10	0.66056	D	0.02	-3.0626	15.7433	0.77920	0.0:0.0:1.0:0.0	.	210;215	O00255-2;O00255	.;MEN1_HUMAN	I	210;210;210;210;215;215;215;215;215;210;210;210	ENSP00000366533:T210I;ENSP00000366543:T210I;ENSP00000308975:T210I;ENSP00000323747:T210I;ENSP00000337088:T215I;ENSP00000377901:T215I;ENSP00000377899:T215I;ENSP00000396940:T215I;ENSP00000366530:T215I;ENSP00000413944:T210I;ENSP00000394933:T210I;ENSP00000411218:T210I	ENSP00000308975:T210I	T	-	2	0	0	MEN1	64331964	64331964	1.000000	0.71417	0.946000	0.38457	0.729000	0.41735	6.808000	0.75206	2.386000	0.81285	0.462000	0.41574	ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-11.019270	1	0.170000				10	9		274	269	0		1	0		0	0	61	0		9.966803e-01	8.225137e-01	0	1	0	88	0	10	274
CDC42BPG	55561	broad.mit.edu	37	11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCCGTTGGCAGGGCCCACGTG	0.607																																						ENST00000342711.5	1.000000	0.200000	4.400000e-01	2.600000e-01	0.340000	0.374577	0.340000	0.330000																										0				4						c.(4351-4353)cCt>cAt		CDC42 binding protein kinase gamma (DMPK-like)							98.0	90.0	92.0					11																	64594559		2201	4297	6498	SO:0001583	missense	55561	0	0					g.chr11:64594559G>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4352C>A	chr11.hg19:g.64594559G>T	ENSP00000345133:p.Pro1451His	0						p.P1451H	NM_017525.2	NP_059995.2	1	2	3	1.991067				34	4351	-				Missense_Mutation	SNP	ENST00000342711.5	1	1	hg19	c.4352C>A	CCDS31601.1	0	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596832	0.66332	.	.	ENSG00000171219	ENST00000342711	D	0.84442	-1.85	5.0	4.09	0.47781	5.0	4.09	0.47781	.	0.646706	0.13776	N	0.363588	D	0.90724	0.7089	M	0.82716	2.605	0.45704	D	0.998617	D	0.65815	0.995	P	0.57244	0.816	D	0.90315	0.4340	10	0.87932	D	0	.	11.5066	0.50471	0.0884:0.0:0.9116:0.0	.	1451	Q6DT37	MRCKG_HUMAN	H	1451	ENSP00000345133:P1451H	ENSP00000345133:P1451H	P	-	2	0	0	CDC42BPG	64351135	64351135	1.000000	0.71417	0.408000	0.26446	0.322000	0.28314	6.173000	0.71937	1.247000	0.43917	0.561000	0.74099	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	0	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-2.959249	1	0.170000	XM_290516			17	18		584	578	0		1	0		0	0	101	0		9.999630e-01	1.765609e-02	0	0	0	7	0	17	584
CDC42BPG	55561	broad.mit.edu	37	11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342711.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(3193-3195)Cag>Tag		CDC42 binding protein kinase gamma (DMPK-like)							29.0	29.0	29.0					11																	64599088		2198	4294	6492	SO:0001587	stop_gained	55561	0	0					g.chr11:64599088G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3193C>T	chr11.hg19:g.64599088G>A	ENSP00000345133:p.Gln1065*	0		OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	CDC42BPG_ENST00000491280.1_5'UTR	p.Q1065*	NM_017525.2	NP_059995.2	1	2	3	1.991067				28	3192	-				Nonsense_Mutation	SNP	ENST00000342711.5	0	1	hg19	c.3193C>T	CCDS31601.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.391436	0.98791	.	.	ENSG00000171219	ENST00000342711	.	.	.	3.85	3.85	0.44370	3.85	3.85	0.44370	.	0.000000	0.38111	N	0.001805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.6836	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000345133:Q1065X	Q	-	1	0	0	CDC42BPG	64355664	64355664	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.325000	0.65869	2.167000	0.68274	0.313000	0.20887	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000	XM_290516			37	37		149	144	1		1	1		0	0	32	0		1	7.222864e-01	0	3	0	9	0	37	149
CDC42BPG	55561	broad.mit.edu	37	11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672																																						ENST00000342711.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1894-1896)gaG>gaT		CDC42 binding protein kinase gamma (DMPK-like)							181.0	191.0	187.0					11																	64602876		2201	4297	6498	SO:0001583	missense	55561	0	0					g.chr11:64602876C>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1896G>T	chr11.hg19:g.64602876C>A	ENSP00000345133:p.Glu632Asp	0					CDC42BPG_ENST00000491280.1_5'Flank	p.E632D	NM_017525.2	NP_059995.2	1	2	3	1.991067				16	1895	-				Missense_Mutation	SNP	ENST00000342711.5	1	1	hg19	c.1896G>T	CCDS31601.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054298	0.55218	.	.	ENSG00000171219	ENST00000342711	T	0.52057	0.68	4.72	0.326	0.15908	4.72	0.326	0.15908	.	0.309656	0.24836	N	0.035208	T	0.48926	0.1527	L	0.36672	1.1	0.25851	N	0.98394	D	0.64830	0.994	D	0.70716	0.97	T	0.31475	-0.9942	10	0.54805	T	0.06	.	4.3078	0.10956	0.3085:0.5054:0.0:0.1861	.	632	Q6DT37	MRCKG_HUMAN	D	632	ENSP00000345133:E632D	ENSP00000345133:E632D	E	-	3	2	2	CDC42BPG	64359452	64359452	0.998000	0.40836	0.985000	0.45067	0.753000	0.42808	0.675000	0.25232	0.160000	0.19432	-0.258000	0.10820	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1		2	2	2	0		0	0	328		328	327	1	2.060000	-20.000000	1	0.170000	XM_290516			351	351		1586	1548	1		1	1		0	0	328	0		1	7.845063e-01	0	8	0	7	0	351	1586
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	C	T	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612																																						ENST00000342711.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(820-822)acG>acA		CDC42 binding protein kinase gamma (DMPK-like)							105.0	97.0	100.0					11																	64606559		2201	4297	6498	SO:0001819	synonymous_variant	55561	1	121408	35				g.chr11:64606559C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.822G>A	chr11.hg19:g.64606559C>T		0						p.T274T	NM_017525.2	NP_059995.2	1	2	3	1.991067				7	821	-				Silent	SNP	ENST00000342711.5	1	1	hg19	c.822G>A	CCDS31601.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-3.378575	1	0.170000	XM_290516			82	82		378	375	1		1	1		0	0	101	0		1	7.756084e-01	0	3	0	12	0	82	378
CDC42BPG	55561	broad.mit.edu	37	11	64607741	64607741	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657																																						ENST00000342711.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.e5-1		CDC42 binding protein kinase gamma (DMPK-like)							62.0	52.0	56.0					11																	64607741		2201	4297	6498	SO:0001630	splice_region_variant	55561	0	0					g.chr11:64607741C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.433-1G>A	chr11.hg19:g.64607741C>T		0							NM_017525.2	NP_059995.2	1	2	3	1.991067				5	432	-				Splice_Site	SNP	ENST00000342711.5	1	1	hg19		CCDS31601.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154984	0.78114	.	.	ENSG00000171219	ENST00000342711	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7448	0.85469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CDC42BPG	64364317	64364317	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.668000	0.83897	2.621000	0.88768	0.655000	0.94253	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	0	0	1		17	2	2	1		1	1	46		46	46	1	2.060000	-20.000000	1	0.170000	XM_290516	Intron		47	46		208	202	1		1	1		1	0	46	0		9.999781e-01	3.859477e-01	0	7	0	0	0	47	208
EHD1	10938	broad.mit.edu	37	11	64641903	64641903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	164	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557																																						ENST00000320631.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999660	0.990000	1.000000																										0				12						c.(490-492)cgG>cgA		EH-domain containing 1							63.0	47.0	53.0					11																	64641903		2200	4294	6494	SO:0001819	synonymous_variant	10938	0	0					g.chr11:64641903C>T	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.492G>A	chr11.hg19:g.64641903C>T		0					EHD1_ENST00000359393.2_Silent_p.R164R	p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	1	2	3	1.991067	Q9H4M9	EHD1_HUMAN		2	746	-			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	0	1	hg19	c.492G>A	CCDS8084.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.999890	1	0.170000	NM_006795			12	12		40	39	1		1	1		0	0	11	0		9.994301e-01	1	0	80	0	110	0	12	40
ATG2A	23130	broad.mit.edu	37	11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A	rs369775317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000377264.3	-	41	5733	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1874					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)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGCCCCGCGATGCCACGTC	0.677																																						ENST00000377264.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(5620-5622)tCg>tTg		autophagy related 2A		G	LEU/SER	0,4400		0,0,2200	30.0	33.0	32.0		5621	3.8	0.1	11		32	1,8583		0,1,4291	no	missense	ATG2A	NM_015104.2	145	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1874/1939	64662641	1,12983	2200	4292	6492	SO:0001583	missense	23130	1	121368	30				g.chr11:64662641G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5621C>T	chr11.hg19:g.64662641G>A	ENSP00000366475:p.Ser1874Leu	0					ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	p.S1874L	NM_015104.2	NP_055919.2	1	2	3	1.991067	Q2TAZ0	ATG2A_HUMAN		41	5733	-			O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	1	1	hg19	c.5621C>T	CCDS31602.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022483	0.54683	0.0	1.16E-4	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.07327	3.2;3.2	3.83	3.83	0.44106	3.83	3.83	0.44106	Autophagy-related, C-terminal (1);	0.074853	0.53938	D	0.000047	T	0.08980	0.0222	L	0.32530	0.975	0.47308	D	0.99938	P;P	0.49862	0.929;0.912	P;B	0.45037	0.467;0.336	T	0.31475	-0.9942	10	0.31617	T	0.26	.	13.627	0.62170	0.0:0.0:1.0:0.0	.	1874;1876	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1876;267;1874	ENSP00000410522:S1876L;ENSP00000366475:S1874L	ENSP00000366473:S267L	S	-	2	0	0	ATG2A	64419217	64419217	1.000000	0.71417	0.103000	0.21229	0.389000	0.30415	9.096000	0.94182	2.144000	0.66660	0.561000	0.74099	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_015104			65	66		324	322	1		1	1		0	0	53	0		1	9.885205e-01	0	10	0	27	0	65	324
ATG2A	23130	broad.mit.edu	37	11	64669563	64669563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000377264.3	-	29	4102	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_ENST00000421419.2_Silent_p.V1332V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1330					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)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGGCCCCCGACAGGTGGTG	0.612																																						ENST00000377264.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3988-3990)gtC>gtT		autophagy related 2A							87.0	92.0	90.0					11																	64669563		2201	4297	6498	SO:0001819	synonymous_variant	23130	4	121412	39				g.chr11:64669563G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3990C>T	chr11.hg19:g.64669563G>A		0					ATG2A_ENST00000421419.2_Silent_p.V1332V	p.V1330V	NM_015104.2	NP_055919.2	1	2	3	1.991067	Q2TAZ0	ATG2A_HUMAN		29	4102	-			O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	1	1	hg19	c.3990C>T	CCDS31602.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455658	0.01071	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.39	-3.62	0.04543	4.39	-3.62	0.04543	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	6.4286	0.21784	0.4439:0.1355:0.4205:0.0	.	.	.	.	W	1134	.	.	R	-	1	2	2	ATG2A	64426139	64426139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.686000	0.05170	0.563000	0.77884	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_015104			106	105		508	501	1		1	1		0	0	118	0		1	9.999705e-01	0	27	0	46	0	106	508
PPP2R5B	5526	broad.mit.edu	37	11	64695588	64695588	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	183					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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557																																						ENST00000164133.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(547-549)ccC>ccA		protein phosphatase 2, regulatory subunit B', beta							144.0	134.0	138.0					11																	64695588		2201	4297	6498	SO:0001819	synonymous_variant	5526	5	121412	39				g.chr11:64695588C>A	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.549C>A	chr11.hg19:g.64695588C>A		0						p.P183P	NM_006244.3	NP_006235.1	1	2	3	1.991067	Q15173	2A5B_HUMAN		5	1171	+			Q13853	Silent	SNP	ENST00000164133.2	1	1	hg19	c.549C>A	CCDS8085.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-2.972508	1	0.170000	NM_006244			85	85		441	435	1		1	1		0	0	114	0		1	9.999847e-01	0	30	0	54	0	85	441
PPP2R5B	5526	broad.mit.edu	37	11	64698961	64698961	+	Splice_Site	SNP	C	C	T	rs139176991	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64698961C>T	ENST00000164133.2	+	9	1567	c.945C>T	c.(943-945)caC>caT	p.H315H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	315					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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TGACAGAGCACGTGAGTACCT	0.592													C|||	7	0.00139776	0.003	0.0	5008	,	,		18084	0.003		0.0	False		,,,				2504	0.0					ENST00000164133.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(943-945)caC>caT		protein phosphatase 2, regulatory subunit B', beta		C		5,4397	9.9+/-24.2	0,5,2196	72.0	59.0	64.0		945	-3.9	0.9	11	dbSNP_134	64	0,8594		0,0,4297	yes	coding-synonymous-near-splice	PPP2R5B	NM_006244.3		0,5,6493	TT,TC,CC		0.0,0.1136,0.0385		315/498	64698961	5,12991	2201	4297	6498	SO:0001630	splice_region_variant	5526	33	121412	43				g.chr11:64698961C>T	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.945+1C>T	chr11.hg19:g.64698961C>T		0						p.H315H	NM_006244.3	NP_006235.1	1	2	3	1.991067	Q15173	2A5B_HUMAN		9	1567	+			Q13853	Splice_Site	SNP	ENST00000164133.2	1	0	hg19	c.945C>T	CCDS8085.1	1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	0.301	-0.973927	0.02215	0.001136	0.0	ENSG00000068971	ENST00000359279	.	.	.	4.29	-3.86	0.04230	4.29	-3.86	0.04230	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68674	-0.5346	5	0.87932	D	0	-22.0535	11.6455	0.51259	0.0:0.5824:0.0:0.4176	.	.	.	.	C	341	.	ENSP00000352225:R341C	R	+	1	0	0	PPP2R5B	64455537	64455537	0.000000	0.05858	0.928000	0.36995	0.262000	0.26303	-1.788000	0.01763	-0.919000	0.03803	-0.379000	0.06801	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.436711	1	0.170000	NM_006244	Silent		32	31		123	122	1		1	1		0	0	28	0		1	1	0	24	0	92	0	32	123
SNX15	29907	broad.mit.edu	37	11	64803116	64803116	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SNX15_ENST00000352068.5_Silent_p.F215F|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	215					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(643-645)ttC>ttT		sorting nexin 15							69.0	70.0	69.0					11																	64803116		2201	4297	6498	SO:0001819	synonymous_variant	29907	1	121404	25				g.chr11:64803116C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.645C>T	chr11.hg19:g.64803116C>T		0					SNX15_ENST00000352068.5_Silent_p.F215F|RP11-399J13.3_ENST00000301886.3_3'UTR	p.F215F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	1	2	3	1.991067	Q9NRS6	SNX15_HUMAN		6	775	+			E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	1	1	hg19	c.645C>T	CCDS8089.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000				119	118		488	476	1		1	1		0	0	136	0		1	1	0	34	0	76	0	119	488
NAALADL1	10004	broad.mit.edu	37	11	64825602	64825602	+	Silent	SNP	G	G	A	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000358658.3	-	2	333	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667																																						ENST00000358658.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(304-306)taC>taT		N-acetylated alpha-linked acidic dipeptidase-like 1		G		2,4400	4.2+/-10.8	0,2,2199	43.0	40.0	41.0		306	-2.2	0.1	11	dbSNP_134	41	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,2,6496	AA,AG,GG		0.0,0.0454,0.0154		102/741	64825602	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	10004	3	121410	31				g.chr11:64825602G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.306C>T	chr11.hg19:g.64825602G>A		0					NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y	p.Y102Y	NM_005468.2	NP_005459.2	1	2	3	1.991067	Q9UQQ1	NALDL_HUMAN		2	333	-			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	1	1	hg19	c.306C>T	CCDS31604.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_005468			91	91		311	305	1		1			0	0	73	0		1	0	0	0	0	0	0	91	311
CDCA5	113130	broad.mit.edu	37	11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	200					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577																																						ENST00000275517.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(598-600)Gcc>Acc		cell division cycle associated 5							69.0	77.0	75.0					11																	64846905		2201	4297	6498	SO:0001583	missense	113130	0	0					g.chr11:64846905C>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.598G>A	chr11.hg19:g.64846905C>T	ENSP00000275517:p.Ala200Thr	0					CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	p.A200T	NM_080668.3	NP_542399.1	1	2	3	1.991067	Q96FF9	CDCA5_HUMAN		5	770	-			A8K625	Missense_Mutation	SNP	ENST00000275517.3	1	1	hg19	c.598G>A	CCDS8091.1	1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661948	0.47572	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.43688	0.94;0.94	5.29	-0.127	0.13510	5.29	-0.127	0.13510	.	0.451135	0.23805	N	0.044381	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.19582	-1.0301	10	0.33141	T	0.24	.	9.3783	0.38297	0.0:0.5908:0.0:0.4092	.	200	Q96FF9	CDCA5_HUMAN	T	200	ENSP00000275517:A200T;ENSP00000385711:A200T	ENSP00000275517:A200T	A	-	1	0	0	CDCA5	64603481	64603481	0.172000	0.23043	0.032000	0.17829	0.676000	0.39594	0.288000	0.18939	-0.032000	0.13758	-0.151000	0.13558	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.231092	0	0.170000	NM_080668			76	75		298	291	1		1	1		0	0	62	0		1	9.985580e-01	0	13	0	27	0	76	298
CDCA5	113130	broad.mit.edu	37	11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	151					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632																																						ENST00000275517.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(451-453)aCc>aTc		cell division cycle associated 5							31.0	34.0	33.0					11																	64847051		2201	4297	6498	SO:0001583	missense	113130	0	0					g.chr11:64847051G>A	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.452C>T	chr11.hg19:g.64847051G>A	ENSP00000275517:p.Thr151Ile	0					CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	p.T151I	NM_080668.3	NP_542399.1	1	2	3	1.991067	Q96FF9	CDCA5_HUMAN		5	624	-			A8K625	Missense_Mutation	SNP	ENST00000275517.3	1	1	hg19	c.452C>T	CCDS8091.1	1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959397	0.34565	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.45668	0.89;0.89	4.89	-2.52	0.06346	4.89	-2.52	0.06346	.	1.143710	0.06283	N	0.697788	T	0.44329	0.1288	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.39590	0.304	T	0.55101	-0.8193	10	0.59425	D	0.04	.	11.5239	0.50569	0.0:0.4348:0.4424:0.1228	.	151	Q96FF9	CDCA5_HUMAN	I	151	ENSP00000275517:T151I;ENSP00000385711:T151I	ENSP00000275517:T151I	T	-	2	0	0	CDCA5	64603627	64603627	0.058000	0.20735	0.000000	0.03702	0.356000	0.29392	0.335000	0.19806	-0.186000	0.10533	0.650000	0.86243	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_080668			40	40		164	161	1		1	1		0	0	33	0		1	9.704730e-01	0	9	0	17	0	40	164
ZFPL1	7542	broad.mit.edu	37	11	64855532	64855532	+	Silent	SNP	C	C	T	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	293					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)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667																																						ENST00000294258.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(877-879)agC>agT		zinc finger protein-like 1		C		0,4402		0,0,2201	90.0	88.0	89.0		879	-2.1	1.0	11	dbSNP_134	89	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ZFPL1	NM_006782.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		293/311	64855532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	7542	1	121408	38				g.chr11:64855532C>T		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.879C>T	chr11.hg19:g.64855532C>T		0					AP003068.6_ENST00000525544.2_5'Flank	p.S293S	NM_006782.3	NP_006773.2	1	2	3	1.991067	O95159	ZFPL1_HUMAN		8	1031	+			A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	1	1	hg19	c.879C>T	CCDS8092.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_006782			135	134		727	715	1		1	1		0	0	142	0		1	9.999998e-01	0	32	0	83	0	135	727
ZNHIT2	741	broad.mit.edu	37	11	64884293	64884293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64884293G>A	ENST00000310597.4	-	1	877	c.833C>T	c.(832-834)cCg>cTg	p.P278L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	278							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGCCCCGGCGGGTGCTC	0.706																																						ENST00000310597.4	1.000000	0.110000	4.800000e-01	1.900000e-01	0.310000	0.355307	0.310000	0.280000																										0				6						c.(832-834)cCg>cTg		zinc finger, HIT-type containing 2							12.0	15.0	14.0					11																	64884293		2179	4259	6438	SO:0001583	missense	741	0	0					g.chr11:64884293G>A		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.833C>T	chr11.hg19:g.64884293G>A	ENSP00000308548:p.Pro278Leu	0					AP003068.12_ENST00000527789.1_RNA	p.P278L	NM_014205.2	NP_055020.1	1	2	3	1.991067	Q9UHR6	ZNHI2_HUMAN		1	877	-			Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	0	1	hg19	c.833C>T	CCDS8094.1	0	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421075	0.42918	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	T	0.30448	1.53	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.331947	0.27437	U	0.019374	T	0.16342	0.0393	N	0.11560	0.145	0.25447	N	0.988045	P	0.47106	0.89	B	0.37601	0.254	T	0.10776	-1.0615	10	0.31617	T	0.26	-9.9964	15.0938	0.72217	0.0:0.0:1.0:0.0	.	278	Q9UHR6	ZNHI2_HUMAN	L	278;113	ENSP00000308548:P278L	ENSP00000308548:P278L	P	-	2	0	0	ZNHIT2	64640869	64640869	0.042000	0.20092	0.396000	0.26296	0.322000	0.28314	1.537000	0.36083	2.417000	0.82017	0.561000	0.74099	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	0	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-7.006305	1	0.170000	NM_014205			5	5		203	197	0		1	1		0	0	40	0		9.333874e-01	2.345308e-01	0	4	0	28	0	5	203
SYVN1	84447	broad.mit.edu	37	11	64895881	64895881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000377190.3	-	16	1921	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SYVN1_ENST00000526060.1_Silent_p.Q608Q|SYVN1_ENST00000294256.8_Silent_p.Q608Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	609					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)			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						ACTCCAGCTTCTGCAGGCGGC	0.637																																						ENST00000377190.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(1825-1827)caG>caA		synovial apoptosis inhibitor 1, synoviolin							23.0	29.0	27.0					11																	64895881		2201	4297	6498	SO:0001819	synonymous_variant	84447	0	0					g.chr11:64895881C>T	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.1827G>A	chr11.hg19:g.64895881C>T		0					SYVN1_ENST00000526060.1_Silent_p.Q608Q|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.Q608Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q	p.Q609Q	NM_172230.2	NP_757385.1	1	2	3	1.991067	Q86TM6	SYVN1_HUMAN		16	1921	-			Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	1	1	hg19	c.1827G>A	CCDS31605.1	1	.	.	.	.	.	.	.	.	.	.	c	3.512	-0.099676	0.07010	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-4.48	0.03515	4.73	-4.48	0.03515	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	5	0.07990	T	0.79	.	12.7242	0.57162	0.0:0.4464:0.0:0.5536	.	.	.	.	K	609	.	ENSP00000412962:R609K	R	-	2	0	0	SYVN1	64652457	64652457	0.000000	0.05858	0.409000	0.26459	0.890000	0.51754	-2.457000	0.01001	-1.770000	0.01295	-1.194000	0.01681	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_032431			29	28		118	116	1		1	1		0	0	42	0		1	1	0	55	0	231	0	29	118
SYVN1	84447	broad.mit.edu	37	11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T	rs373881281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000377190.3	-	15	1811	c.1717C>A	c.(1717-1719)Cca>Aca	p.P573T	SYVN1_ENST00000526060.1_Missense_Mutation_p.P572T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T|SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	573					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)			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						GGGGCTGGTGGGGAGGCTCCT	0.602																																						ENST00000377190.3	1.000000	0.300000	6.500000e-01	3.900000e-01	0.500000	0.532333	0.500000	0.490000																										0				22						c.(1717-1719)Cca>Aca		synovial apoptosis inhibitor 1, synoviolin							43.0	51.0	48.0					11																	64896065		2201	4297	6498	SO:0001583	missense	84447	0	0					g.chr11:64896065G>T	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.1717C>A	chr11.hg19:g.64896065G>T	ENSP00000366395:p.Pro573Thr	0					SYVN1_ENST00000526060.1_Missense_Mutation_p.P572T|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T|SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T	p.P573T	NM_172230.2	NP_757385.1	1	2	3	1.991067	Q86TM6	SYVN1_HUMAN		15	1811	-			Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	1	1	hg19	c.1717C>A	CCDS31605.1	0	.	.	.	.	.	.	.	.	.	.	g	3.476	-0.106889	0.06924	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	T;T;T;T	0.08896	3.04;3.05;3.22;3.05	4.73	0.831	0.18860	4.73	0.831	0.18860	.	0.817568	0.11036	N	0.606679	T	0.05090	0.0136	N	0.19112	0.55	0.31228	N	0.696704	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.24974	0.057;0.057;0.026	T	0.46247	-0.9205	10	0.11182	T	0.66	-0.2177	6.6834	0.23132	0.3835:0.0:0.6165:0.0	.	521;572;573	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	573;572;521;572	ENSP00000366395:P573T;ENSP00000294256:P572T;ENSP00000302035:P521T;ENSP00000436984:P572T	ENSP00000294256:P572T	P	-	1	0	0	SYVN1	64652641	64652641	0.947000	0.32204	0.995000	0.50966	0.684000	0.39900	0.189000	0.17037	0.000000	0.14550	0.550000	0.68814	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-2.703712	1	0.170000	NM_032431			18	18		412	404	0		1	1		0	0	84	0		9.999798e-01	9.996135e-01	0	11	0	282	0	18	412
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527323.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1264-1266)Gcc>Acc		calpain 1, (mu/I) large subunit							45.0	54.0	51.0					11																	64972252		2072	4203	6275	SO:0001583	missense	823	0	0					g.chr11:64972252G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1264G>A	chr11.hg19:g.64972252G>A	ENSP00000431984:p.Ala422Thr	0		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T	p.A422T			1	2	3	1.991067	P07384	CAN1_HUMAN		10	1504	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	1	1	hg19	c.1264G>A	CCDS44644.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.805608	0.96967	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.51	4.51	0.55191	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.056434	0.64402	D	0.000002	D	0.92928	0.7750	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	15.0833	0.72130	0.0:0.0:1.0:0.0	.	422	P07384	CAN1_HUMAN	T	422;422;422;422;368;422	ENSP00000435272:A422T;ENSP00000431686:A422T;ENSP00000434176:A422T;ENSP00000279247:A422T;ENSP00000431984:A422T	ENSP00000259755:A368T	A	+	1	0	0	CAPN1	64728828	64728828	1.000000	0.71417	0.888000	0.34837	0.970000	0.65996	9.716000	0.98752	2.232000	0.73038	0.563000	0.77884	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				79	79		284	283	1		1	1		0	0	51	0		1	1	0	125	0	379	0	79	284
POLA2	23649	broad.mit.edu	37	11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000541089.1_Missense_Mutation_p.I294T|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	502					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)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488																																						ENST00000265465.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1504-1506)aTc>aCc		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						87.0	81.0	83.0					11																	65063055		2201	4297	6498	SO:0001583	missense	23649	0	0					g.chr11:65063055T>C	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1505T>C	chr11.hg19:g.65063055T>C	ENSP00000265465:p.Ile502Thr	0					POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.I294T	p.I502T	NM_002689.2	NP_002680.2	1	2	3	1.991067	Q14181	DPOA2_HUMAN		16	2036	+			B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	1	1	hg19	c.1505T>C	CCDS8098.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091466|4.091466	0.76756|0.76756	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	5.06|5.06	5.06|5.06	0.68205|0.68205	DNA polymerase alpha/epsilon, subunit B (1);|.	0.088707|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.83774|0.83774	2.66|2.66	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.42556|.	0.629;0.783|.	B;P|.	0.45577|.	0.405;0.486|.	T|T	0.78685|0.78685	-0.2108|-0.2108	10|5	0.72032|.	D|.	0.01|.	-24.0439|-24.0439	12.7672|12.7672	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294;502|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|P	502;294|172	ENSP00000265465:I502T;ENSP00000443222:I294T|.	ENSP00000265465:I502T|.	I|S	+|+	2|1	0|0	0|0	POLA2|POLA2	64819631|64819631	64819631|64819631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.680000|6.680000	0.74518|0.74518	1.911000|1.911000	0.55334|0.55334	0.379000|0.379000	0.24179|0.24179	ATC|TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_002689			68	66		326	321	1		1	1		0	0	82	0		1	9.979629e-01	0	11	0	36	0	68	326
CDC42EP2	10435	broad.mit.edu	37	11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T	rs200071372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	94					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17844	0.001		0.0	False		,,,				2504	0.0					ENST00000544348.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.989637	0.990000	1.000000																										0				1						c.(280-282)Cgg>Tgg		CDC42 effector protein (Rho GTPase binding) 2							65.0	66.0	66.0					11																	65088649		2201	4297	6498	SO:0001583	missense	10435	25	121406	43				g.chr11:65088649C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.280C>T	chr11.hg19:g.65088649C>T	ENSP00000442534:p.Arg94Trp	0					CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W	p.R94W			1	2	3	1.991067	O14613	BORG1_HUMAN		2	886	+			B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	1	1	hg19	c.280C>T	CCDS8099.1	1	89	0.04075091575091575	24	0.04878048780487805	9	0.024861878453038673	20	0.03496503496503497	36	0.047493403693931395	C	9.404	1.078776	0.20227	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33865	1.39;1.39;1.39	5.06	3.13	0.36017	5.06	3.13	0.36017	.	0.647764	0.14384	N	0.322973	T	0.07593	0.0191	L	0.44542	1.39	0.30127	N	0.805174	D	0.56746	0.977	P	0.47206	0.541	T	0.04347	-1.0958	10	0.56958	D	0.05	-23.6747	11.8157	0.52209	0.3186:0.6814:0.0:0.0	.	94	O14613	BORG1_HUMAN	W	94	ENSP00000279249:R94W;ENSP00000431660:R94W;ENSP00000442534:R94W	ENSP00000279249:R94W	R	+	1	2	2	CDC42EP2	64845225	64845225	0.000000	0.05858	0.091000	0.20842	0.289000	0.27227	0.349000	0.20055	0.673000	0.31224	0.467000	0.42956	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000	NM_006779			44	44		402	396	1		1	1		0	0	81	0		1	9.999091e-01	0	21	0	106	0	44	402
DPF2	5977	broad.mit.edu	37	11	65113213	65113213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000528416.1	+	7	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.G252G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	238					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527																																						ENST00000528416.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(712-714)ggC>ggT		D4, zinc and double PHD fingers family 2							74.0	67.0	70.0					11																	65113213		2201	4297	6498	SO:0001819	synonymous_variant	5977	2	121412	31				g.chr11:65113213C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.714C>T	chr11.hg19:g.65113213C>T		0					DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G252G	p.G238G	NM_006268.4	NP_006259.1	1	2	3	1.991067	Q92785	REQU_HUMAN		7	847	+			A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	1	0	hg19	c.714C>T	CCDS8100.1	1	.	.	.	.	.	.	.	.	.	.	c	8.255	0.809838	0.16537	.	.	ENSG00000133884	ENST00000531989	D	0.91068	-2.78	5.24	-10.2	0.00374	5.24	-10.2	0.00374	.	.	.	.	.	D	0.91016	0.7174	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91055	0.4881	6	0.87932	D	0	-24.6152	13.2977	0.60307	0.0867:0.1833:0.0:0.7299	.	.	.	.	V	1	ENSP00000435887:A1V	ENSP00000435887:A1V	A	+	2	0	0	DPF2	64869789	64869789	0.000000	0.05858	0.034000	0.17996	0.673000	0.39480	-4.528000	0.00220	-2.294000	0.00663	-1.982000	0.00454	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_006268			60	60		258	253	1		1	1		0	0	49	0		1	1	0	47	0	115	0	60	258
DPF2	5977	broad.mit.edu	37	11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000528416.1	+	9	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.T324I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	310					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557																																						ENST00000528416.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(928-930)aCc>aTc		D4, zinc and double PHD fingers family 2							142.0	108.0	120.0					11																	65113742		2201	4297	6498	SO:0001583	missense	5977	0	0					g.chr11:65113742C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.929C>T	chr11.hg19:g.65113742C>T	ENSP00000436901:p.Thr310Ile	0					DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.T324I	p.T310I	NM_006268.4	NP_006259.1	1	2	3	1.991067	Q92785	REQU_HUMAN		9	1062	+			A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	1	1	hg19	c.929C>T	CCDS8100.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048325	0.93740	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90955	-2.75;-2.76	5.62	5.62	0.85841	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001563	D	0.96367	0.8815	M	0.90977	3.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.96952	0.9695	10	0.87932	D	0	-22.942	17.1512	0.86778	0.0:1.0:0.0:0.0	.	310	Q92785	REQU_HUMAN	I	310;324	ENSP00000436901:T310I;ENSP00000252268:T324I	ENSP00000252268:T324I	T	+	2	0	0	DPF2	64870318	64870318	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.701000	0.84566	2.667000	0.90743	0.561000	0.74099	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	1	0	0		2	2	2	0		0	0	82		82	80	1	2.060000	-3.446565	1	0.170000	NM_006268			47	46		211	206	1		1	1		0	0	82	0		1	1	0	39	0	132	0	47	211
DPF2	5977	broad.mit.edu	37	11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000528416.1	+	9	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R335H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	321					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562																																						ENST00000528416.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(961-963)cGc>cAc		D4, zinc and double PHD fingers family 2							153.0	114.0	128.0					11																	65113775		2201	4297	6498	SO:0001583	missense	5977	1	121412	28				g.chr11:65113775G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.962G>A	chr11.hg19:g.65113775G>A	ENSP00000436901:p.Arg321His	0					DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R335H	p.R321H	NM_006268.4	NP_006259.1	1	2	3	1.991067	Q92785	REQU_HUMAN		9	1095	+			A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	1	1	hg19	c.962G>A	CCDS8100.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.825531	0.96996	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.92805	0.7712	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.63033	0.91	D	0.93216	0.6604	10	0.66056	D	0.02	-20.6648	17.1512	0.86778	0.0:0.0:1.0:0.0	.	321	Q92785	REQU_HUMAN	H	321;335	ENSP00000436901:R321H;ENSP00000252268:R335H	ENSP00000252268:R335H	R	+	2	0	0	DPF2	64870351	64870351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.607000	0.74163	2.667000	0.90743	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-3.453851	1	0.170000	NM_006268			50	48		209	203	1		1	1		0	0	80	0		1	1	0	39	0	131	0	50	209
SLC25A45	283130	broad.mit.edu	37	11	65144076	65144076	+	Silent	SNP	G	G	A	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000527174.1	-	6	724	c.669C>T	c.(667-669)gaC>gaT	p.D223D	SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000417511.2_Silent_p.D181D|SLC25A45_ENST00000294187.6_Silent_p.D181D|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	223					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACTTGATCATGTCTAAGGGCG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.0					ENST00000527174.1	1.000000	0.280000	6.100000e-01	3.700000e-01	0.470000	0.500577	0.470000	0.460000																										0				14						c.(667-669)gaC>gaT		solute carrier family 25, member 45							79.0	83.0	82.0					11																	65144076		2149	4247	6396	SO:0001819	synonymous_variant	283130	6	121154	40				g.chr11:65144076G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.669C>T	chr11.hg19:g.65144076G>A		0					SLC25A45_ENST00000377152.2_Silent_p.D119D|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000417511.2_Silent_p.D181D|SLC25A45_ENST00000360662.3_Silent_p.D199D	p.D223D			1	2	3	1.991067	Q8N413	S2545_HUMAN		6	724	-			Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	1	1	hg19	c.669C>T	CCDS41670.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-17.332080	1	0.170000	NM_182556			18	18		442	433	0		1	1		0	0	89	0		9.999794e-01	3.489877e-01	0	3	0	27	0	18	442
FRMD8	83786	broad.mit.edu	37	11	65156957	65156957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	ENST00000317568.5	+	3	374	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_ENST00000355991.5_Intron|FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TCCAGACATCGCCCTGGATGT	0.647																																						ENST00000317568.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(211-213)Gcc>Acc		FERM domain containing 8							57.0	40.0	46.0					11																	65156957		2201	4297	6498	SO:0001583	missense	83786	1	121370	24				g.chr11:65156957G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.211G>A	chr11.hg19:g.65156957G>A	ENSP00000319726:p.Ala71Thr	0					FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	p.A71T	NM_031904.3	NP_114110.1	1	2	3	1.991067	Q9BZ67	FRMD8_HUMAN		3	374	+			B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	0	1	hg19	c.211G>A	CCDS8102.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689184	0.68271	.	.	ENSG00000126391	ENST00000317568;ENST00000416776;ENST00000526201;ENST00000525156	D;D	0.85773	-1.86;-2.03	5.11	5.11	0.69529	5.11	5.11	0.69529	Band 4.1 domain (1);FERM domain (1);	0.123969	0.52532	D	0.000061	D	0.91948	0.7450	M	0.81497	2.545	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.71656	0.955;0.974	D	0.91702	0.5374	10	0.41790	T	0.15	-5.9838	16.0501	0.80755	0.0:0.0:1.0:0.0	.	71;71	B4E2P1;Q9BZ67	.;FRMD8_HUMAN	T	71;71;63;71	ENSP00000319726:A71T;ENSP00000392111:A71T	ENSP00000319726:A71T	A	+	1	0	0	FRMD8	64913533	64913533	1.000000	0.71417	0.498000	0.27564	0.083000	0.17756	5.954000	0.70298	2.375000	0.81037	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_031904			36	35		112	109	0		1	1		0	0	34	0		1	1	0	69	0	97	0	36	112
FRMD8	83786	broad.mit.edu	37	11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V|FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	374	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687																																						ENST00000317568.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				17						c.(1120-1122)gCg>gTg		FERM domain containing 8							31.0	34.0	33.0					11																	65172384		2201	4297	6498	SO:0001583	missense	83786	20	121364	42				g.chr11:65172384C>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1121C>T	chr11.hg19:g.65172384C>T	ENSP00000319726:p.Ala374Val	0					FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	p.A374V	NM_031904.3	NP_114110.1	1	2	3	1.991067	Q9BZ67	FRMD8_HUMAN		10	1284	+			B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	1	1	hg19	c.1121C>T	CCDS8102.1	1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837694	0.16891	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83506	-1.73;-1.14;-1.73	5.09	4.17	0.49024	5.09	4.17	0.49024	FERM domain (1);	0.730035	0.12832	N	0.435558	T	0.71888	0.3393	N	0.16478	0.41	0.09310	N	1	B;B;B	0.24721	0.002;0.04;0.11	B;B;B	0.17722	0.001;0.019;0.006	T	0.54918	-0.8221	10	0.27785	T	0.31	-0.2797	14.7452	0.69485	0.0:0.9198:0.0:0.0802	.	340;318;374	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	V	374;318;340	ENSP00000319726:A374V;ENSP00000348270:A318V;ENSP00000392111:A340V	ENSP00000319726:A374V	A	+	2	0	0	FRMD8	64928960	64928960	0.940000	0.31905	0.293000	0.24932	0.005000	0.04900	2.398000	0.44486	0.659000	0.30945	-0.797000	0.03246	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.325010	1	0.170000	NM_031904			47	45		265	262	1		1	1		0	0	50	0		1	1	0	65	0	92	0	47	265
SCYL1	57410	broad.mit.edu	37	11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000270176.5	+	9	1230	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000524944.1_Missense_Mutation_p.V385F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	385					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592																																						ENST00000270176.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1153-1155)Gtc>Ttc		SCY1-like 1 (S. cerevisiae)							107.0	124.0	118.0					11																	65300199		2161	4252	6413	SO:0001583	missense	57410	0	0					g.chr11:65300199G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1153G>T	chr11.hg19:g.65300199G>T	ENSP00000270176:p.Val385Phe	0					SCYL1_ENST00000524944.1_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F	p.V385F	NM_020680.3	NP_065731.3	1	2	3	1.991067	Q96KG9	NTKL_HUMAN		9	1230	+			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	1	1	hg19	c.1153G>T	CCDS41672.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689093	0.68271	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.18	4.18	0.49190	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.138171	0.47852	D	0.000220	T	0.48960	0.1529	M	0.88241	2.94	0.80722	D	1	B;D;P;B;P	0.60160	0.228;0.987;0.516;0.399;0.774	B;P;B;B;B	0.61397	0.15;0.888;0.373;0.287;0.271	T	0.61118	-0.7127	10	0.87932	D	0	-11.1604	14.353	0.66716	0.0:0.0:1.0:0.0	.	385;385;385;385;385	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	F	385;385;385;385;385;385;385;385;242	ENSP00000270176:V385F;ENSP00000431635:V385F;ENSP00000408192:V385F;ENSP00000437254:V385F;ENSP00000433450:V385F;ENSP00000279270:V385F;ENSP00000432175:V385F;ENSP00000436993:V242F	ENSP00000270176:V385F	V	+	1	0	0	SCYL1	65056775	65056775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.470000	0.90399	2.074000	0.62210	0.462000	0.41574	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_020680			43	41		196	193	1		1	1		0	0	79	0		1	1	0	95	0	349	0	43	196
SCYL1	57410	broad.mit.edu	37	11	65302805	65302805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000270176.5	+	10	1415	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000524944.1_Silent_p.C446C	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	446					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602																																						ENST00000270176.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				2						c.(1336-1338)tgC>tgT		SCY1-like 1 (S. cerevisiae)							117.0	124.0	121.0					11																	65302805		2160	4253	6413	SO:0001819	synonymous_variant	57410	0	0					g.chr11:65302805C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1338C>T	chr11.hg19:g.65302805C>T		0					SCYL1_ENST00000524944.1_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C	p.C446C	NM_020680.3	NP_065731.3	1	2	3	1.991067	Q96KG9	NTKL_HUMAN		10	1415	+			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	1	1	hg19	c.1338C>T	CCDS41672.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_020680			77	74		513	501	1		1	1		0	0	130	0		1	1	0	125	0	319	0	77	513
SCYL1	57410	broad.mit.edu	37	11	65304578	65304578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000270176.5	+	14	2015	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000524944.1_Silent_p.D646D	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	646					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642																																						ENST00000270176.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999529	0.990000	1.000000																										0				2						c.(1936-1938)gaC>gaT		SCY1-like 1 (S. cerevisiae)							67.0	83.0	78.0					11																	65304578		2127	4244	6371	SO:0001819	synonymous_variant	57410	0	0					g.chr11:65304578C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1938C>T	chr11.hg19:g.65304578C>T		0					SCYL1_ENST00000524944.1_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D	p.D646D	NM_020680.3	NP_065731.3	1	2	3	1.991067	Q96KG9	NTKL_HUMAN		14	2015	+			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	1	1	hg19	c.1938C>T	CCDS41672.1	1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380844	0.05000	.	.	ENSG00000142186	ENST00000417543	.	.	.	5.15	-9.27	0.00659	5.15	-9.27	0.00659	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60378	-0.7275	5	0.40728	T	0.16	-4.8276	6.8351	0.23931	0.1907:0.3926:0.0:0.4168	.	.	.	.	M	331	.	ENSP00000393598:T331M	T	+	2	0	0	SCYL1	65061154	65061154	0.000000	0.05858	0.054000	0.19295	0.339000	0.28857	-4.035000	0.00309	-1.521000	0.01771	-1.384000	0.01168	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_020680			34	34		231	227	0		1	1		0	0	50	0		1	1	0	82	0	374	0	34	231
LTBP3	4054	broad.mit.edu	37	11	65308385	65308385	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	ENST00000301873.5	-	21	3202	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000530785.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	978					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGTCCTGGGTGTAGCCCT	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998996	0.990000	1.000000																										0				23						c.(2932-2934)acC>acA		latent transforming growth factor beta binding protein 3							128.0	112.0	118.0					11																	65308385		2201	4297	6498	SO:0001819	synonymous_variant	4054	0	0					g.chr11:65308385G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2934C>A	chr11.hg19:g.65308385G>T		0		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T	p.T978T	NM_001130144.2	NP_001123616.1	1	2	3	1.991067	Q9NS15	LTBP3_HUMAN		21	3202	-			O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	1	1	hg19	c.2934C>A	CCDS44647.1	1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469160	0.26423	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.45	2.47	0.30058	4.45	2.47	0.30058	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	.	2.5657	0.04783	0.1095:0.1875:0.5105:0.1926	.	.	.	.	T	629	.	.	P	-	1	0	0	LTBP3	65064961	65064961	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.141000	0.16076	0.280000	0.22209	0.455000	0.32223	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-3.358541	1	0.170000	NM_021070			18	17		103	101	0		1	1		0	0	32	0		9.999862e-01	1	0	45	0	422	0	18	103
PCNXL3	399909	broad.mit.edu	37	11	65392409	65392409	+	Silent	SNP	G	G	A	rs370523828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	947						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16273	0.001		0.0	False		,,,				2504	0.0					ENST00000355703.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2839-2841)ccG>ccA		pecanex-like 3 (Drosophila)		G		1,4173		0,1,2086	18.0	21.0	20.0		2841	-10.1	0.3	11		20	0,8422		0,0,4211	no	coding-synonymous	PCNXL3	NM_032223.2		0,1,6297	AA,AG,GG		0.0,0.024,0.0079		947/2035	65392409	1,12595	2087	4211	6298	SO:0001819	synonymous_variant	399909	20	120970	39				g.chr11:65392409G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2841G>A	chr11.hg19:g.65392409G>A		0						p.P947P	NM_032223.2	NP_115599.2	1	2	3	1.991067	Q9H6A9	PCX3_HUMAN		16	3380	+			Q6MZN8	Silent	SNP	ENST00000355703.3	1	1	hg19	c.2841G>A	CCDS44650.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_032223			28	28		88	86	1		1	1		0	0	12	0		1	9.999993e-01	0	20	0	61	0	28	88
PCNXL3	399909	broad.mit.edu	37	11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A	rs372127582	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1216						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.0041					ENST00000355703.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(3646-3648)cGc>cAc		pecanex-like 3 (Drosophila)		G	HIS/ARG	0,4100		0,0,2050	175.0	174.0	174.0		3647	5.5	1.0	11		174	1,8367		0,1,4183	no	missense	PCNXL3	NM_032223.2	29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	benign	1216/2035	65394998	1,12467	2050	4184	6234	SO:0001583	missense	399909	35	120982	50				g.chr11:65394998G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3647G>A	chr11.hg19:g.65394998G>A	ENSP00000347931:p.Arg1216His	0						p.R1216H	NM_032223.2	NP_115599.2	1	2	3	1.991067	Q9H6A9	PCX3_HUMAN		22	4186	+			Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	1	1	hg19	c.3647G>A	CCDS44650.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725067	0.48833	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.06528	3.29	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.181068	0.47455	D	0.000239	T	0.02533	0.0077	N	0.00926	-1.1	0.29813	N	0.831469	B;B	0.16166	0.005;0.016	B;B	0.11329	0.006;0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	17.22	0.86955	0.0:0.0:1.0:0.0	.	103;1216	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1216	ENSP00000347931:R1216H	ENSP00000347931:R1216H	R	+	2	0	0	PCNXL3	65151574	65151574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.735000	0.93741	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	0	0	1		2	2	2	0		0	0	152		152	149	1	2.060000	-20.000000	1	0.170000	NM_032223			176	175		758	734	1		1	1		0	0	152	0		1	9.999998e-01	0	23	0	69	0	176	758
SIPA1	6494	broad.mit.edu	37	11	65408725	65408725	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000394224.3	+	2	629	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000527525.1_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000394227.3_Silent_p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	111					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632																																						ENST00000394224.3	1.000000	0.260000	5.000000e-01	3.300000e-01	0.400000	0.433546	0.400000	0.390000																										0				10						c.(331-333)ctT>ctC		signal-induced proliferation-associated 1							79.0	80.0	80.0					11																	65408725		2201	4297	6498	SO:0001819	synonymous_variant	6494	0	0					g.chr11:65408725T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.333T>C	chr11.hg19:g.65408725T>C		0					SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L	p.L111L	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		2	629	+			O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	1	1	hg19	c.333T>C	CCDS8108.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	0	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-3.778541	1	0.170000	NM_006747			26	26		743	731	0		1	0		0	0	135	0		9.999999e-01	6.482981e-01	0	0	0	64	0	26	743
SIPA1	6494	broad.mit.edu	37	11	65408899	65408899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000394224.3	+	2	803	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000527525.1_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000394227.3_Silent_p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	169					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677																																						ENST00000394224.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993963	0.990000	1.000000																										0				10						c.(505-507)ctC>ctT		signal-induced proliferation-associated 1							56.0	61.0	59.0					11																	65408899		2201	4297	6498	SO:0001819	synonymous_variant	6494	0	0					g.chr11:65408899C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.507C>T	chr11.hg19:g.65408899C>T		0					SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L	p.L169L	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		2	803	+			O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	1	1	hg19	c.507C>T	CCDS8108.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-2.966611	1	0.170000	NM_006747			46	45		404	398	1		1	1		0	0	73	0		1	9.993220e-01	0	4	0	92	0	46	404
SIPA1	6494	broad.mit.edu	37	11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000394224.3	+	2	838	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	181					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672																																						ENST00000394224.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(541-543)gCa>gTa		signal-induced proliferation-associated 1							52.0	54.0	53.0					11																	65408934		2200	4297	6497	SO:0001583	missense	6494	0	0					g.chr11:65408934C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.542C>T	chr11.hg19:g.65408934C>T	ENSP00000377771:p.Ala181Val	0					SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V	p.A181V	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		2	838	+			O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	1	1	hg19	c.542C>T	CCDS8108.1	1	.	.	.	.	.	.	.	.	.	.	C	2.543	-0.305860	0.05458	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.25	-0.778	0.10977	4.25	-0.778	0.10977	.	1.407170	0.05508	N	0.559664	T	0.53610	0.1807	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44590	-0.9318	10	0.28530	T	0.3	-4.0933	8.0908	0.30799	0.0:0.3711:0.0:0.6289	.	181;181	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	181	ENSP00000436269:A181V;ENSP00000433686:A181V;ENSP00000377771:A181V;ENSP00000377774:A181V	ENSP00000377771:A181V	A	+	2	0	0	SIPA1	65165510	65165510	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.035000	0.13797	-0.239000	0.09710	-0.300000	0.09419	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_006747			56	56		286	280	1		1	0		0	0	57	0		1	9.999970e-01	0	1	0	97	0	56	286
SIPA1	6494	broad.mit.edu	37	11	65408968	65408968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000394224.3	+	2	872	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000527525.1_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000394227.3_Silent_p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	192					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637																																						ENST00000394224.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(574-576)gcG>gcA		signal-induced proliferation-associated 1							37.0	37.0	37.0					11																	65408968		2201	4296	6497	SO:0001819	synonymous_variant	6494	1	121336	32				g.chr11:65408968G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.576G>A	chr11.hg19:g.65408968G>A		0					SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A	p.A192A	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		2	872	+			O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	1	1	hg19	c.576G>A	CCDS8108.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_006747			54	53		216	213	1		1	1		0	0	50	0		1	9.999993e-01	0	3	0	85	0	54	216
SIPA1	6494	broad.mit.edu	37	11	65416876	65416876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	ENST00000394224.3	+	10	2746	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	817					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GATGGTGGCAGTCCTCCAGGG	0.652																																						ENST00000394224.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996277	0.990000	1.000000																										0				10						c.(2449-2451)aGt>aTt		signal-induced proliferation-associated 1							39.0	33.0	35.0					11																	65416876		2192	4291	6483	SO:0001583	missense	6494	0	0					g.chr11:65416876G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2450G>T	chr11.hg19:g.65416876G>T	ENSP00000377771:p.Ser817Ile	0					MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I	p.S817I	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		10	2746	+			O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	0	1	hg19	c.2450G>T	CCDS8108.1	1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739776	0.15642	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.77	1.55	0.23275	4.77	1.55	0.23275	.	1.699950	0.04268	U	0.341457	T	0.67933	0.2946	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	0.55431	-0.8142	10	0.33141	T	0.24	0.2005	7.1605	0.25661	0.0:0.1686:0.4841:0.3473	.	715;817	F6RY50;Q96FS4	.;SIPA1_HUMAN	I	817;715;817;715	ENSP00000436269:S817I;ENSP00000433686:S715I;ENSP00000377771:S817I;ENSP00000377774:S715I	ENSP00000377771:S817I	S	+	2	0	0	SIPA1	65173452	65173452	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.667000	0.25112	0.517000	0.28361	0.462000	0.41574	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-19.021410	1	0.170000	NM_006747			10	9		50	46	1		1	1		0	0	13	0		9.964034e-01	9.999972e-01	0	38	0	125	0	10	50
SIPA1	6494	broad.mit.edu	37	11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000394224.3	+	10	2782	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	829					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632																																						ENST00000394224.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999757	0.990000	1.000000																										0				10						c.(2485-2487)aCt>aAt		signal-induced proliferation-associated 1							48.0	42.0	44.0					11																	65416912		2199	4292	6491	SO:0001583	missense	6494	0	0					g.chr11:65416912C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2486C>A	chr11.hg19:g.65416912C>A	ENSP00000377771:p.Thr829Asn	0					MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N	p.T829N	NM_153253.29	NP_694985.29	1	2	3	1.991067	Q96FS4	SIPA1_HUMAN		10	2782	+			O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	0	1	hg19	c.2486C>A	CCDS8108.1	1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155263	0.38021	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82893	-1.66;-1.65;-1.66;-1.65	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.420510	0.18841	U	0.129695	D	0.84745	0.5540	L	0.32530	0.975	0.25394	N	0.988508	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.74867	-0.3518	10	0.19590	T	0.45	-14.4206	13.3654	0.60680	0.0:1.0:0.0:0.0	.	727;829	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	829;727;829;727	ENSP00000436269:T829N;ENSP00000433686:T727N;ENSP00000377771:T829N;ENSP00000377774:T727N	ENSP00000377771:T829N	T	+	2	0	0	SIPA1	65173488	65173488	0.994000	0.37717	0.932000	0.37286	0.428000	0.31595	4.182000	0.58310	2.283000	0.76528	0.462000	0.41574	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_006747			16	15		69	66	1		1	1		0	0	13	0		9.999452e-01	1	0	74	0	227	0	16	69
RELA	5970	broad.mit.edu	37	11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000406246.3	-	10	1256	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000308639.9_Missense_Mutation_p.A329D|RELA_ENST00000525693.1_Missense_Mutation_p.A332D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	332					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|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)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622																																						ENST00000406246.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(994-996)gCt>gAt		v-rel avian reticuloendotheliosis viral oncogene homolog A							91.0	87.0	88.0					11																	65423197		2201	4297	6498	SO:0001583	missense	5970	0	0					g.chr11:65423197G>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.995C>A	chr11.hg19:g.65423197G>T	ENSP00000384273:p.Ala332Asp	0					RELA_ENST00000308639.9_Missense_Mutation_p.A329D|RELA_ENST00000525693.1_Missense_Mutation_p.A332D	p.A332D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	1	2	3	1.991067	Q04206	TF65_HUMAN		10	1256	-			Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	1	1	hg19	c.995C>A	CCDS31609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.479028|4.479028	0.84747|0.84747	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.61|4.61	4.61|4.61	0.57282|0.57282	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.308394|.	0.29900|.	N|.	0.010905|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.61703|0.61703	1.905|1.905	0.38713|0.38713	D|D	0.953263|0.953263	P;D;D;D;P;P|.	0.64830|.	0.867;0.994;0.982;0.97;0.882;0.86|.	B;P;P;P;P;B|.	0.57425|.	0.372;0.737;0.82;0.665;0.554;0.285|.	T|T	0.67719|0.67719	-0.5598|-0.5598	10|5	0.27785|.	T|.	0.31|.	-8.8835|-8.8835	12.9567|12.9567	0.58432|0.58432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	322;319;329;332;343;332|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	D|M	332;332;329;343;343|66	ENSP00000384273:A332D;ENSP00000432537:A332D;ENSP00000311508:A329D;ENSP00000433526:A343D|.	ENSP00000311508:A329D|.	A|L	-|-	2|1	0|2	0|2	RELA|RELA	65179773|65179773	65179773|65179773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.691000|4.691000	0.61738|0.61738	2.125000|2.125000	0.65367|0.65367	0.555000|0.555000	0.69702|0.69702	GCT|CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_021975			54	50		267	258	1		1	1		0	0	73	0		1	1	0	162	0	372	0	54	267
KAT5	10524	broad.mit.edu	37	11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T	rs529240661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000377046.3	+	7	841	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000341318.4_Missense_Mutation_p.S223L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000534650.1_5'UTR	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	190					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.001					ENST00000377046.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999135	0.990000	1.000000																										0				21						c.(568-570)tCg>tTg		K(lysine) acetyltransferase 5							34.0	28.0	30.0					11																	65481297		2200	4293	6493	SO:0001583	missense	10524	3	120984	30				g.chr11:65481297C>T	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.569C>T	chr11.hg19:g.65481297C>T	ENSP00000366245:p.Ser190Leu	0					KAT5_ENST00000341318.4_Missense_Mutation_p.S223L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L	p.S190L	NM_006388.3	NP_006379.2	1	2	3	1.991067	Q92993	KAT5_HUMAN		7	841	+			B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	0	1	hg19	c.569C>T	CCDS31610.1	1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175512	0.38413	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.44482	0.93;0.98;0.92;0.99;0.96;0.94	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.258670	0.32147	N	0.006507	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26975	0.002;0.005;0.165;0.002	B;B;B;B	0.22152	0.001;0.006;0.038;0.001	T	0.06588	-1.0818	10	0.25751	T	0.34	-8.2286	16.395	0.83601	0.0:1.0:0.0:0.0	.	171;223;138;190	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	190;138;223;171;132;184	ENSP00000366245:S190L;ENSP00000344955:S138L;ENSP00000340330:S223L;ENSP00000434765:S171L;ENSP00000436000:S132L;ENSP00000436012:S184L	ENSP00000340330:S223L	S	+	2	0	0	KAT5	65237873	65237873	0.999000	0.42202	0.981000	0.43875	0.944000	0.59088	5.434000	0.66526	2.472000	0.83506	0.561000	0.74099	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.999990	1	0.170000	NM_006388			14	14		67	63	1		1	1		0	0	11	0		9.997785e-01	1	0	46	0	155	0	14	67
OVOL1	5017	broad.mit.edu	37	11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q|RP11-770G2.5_ENST00000531155.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	172					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607																																						ENST00000335987.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(514-516)cGg>cAg		ovo-like zinc finger 1							46.0	39.0	41.0					11																	65562523		2201	4297	6498	SO:0001583	missense	5017	0	0					g.chr11:65562523G>A	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.515G>A	chr11.hg19:g.65562523G>A	ENSP00000337862:p.Arg172Gln	0					RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	p.R172Q	NM_004561.3	NP_004552.2	1	2	3	1.991067	O14753	OVOL1_HUMAN		4	867	+			Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	1	1	hg19	c.515G>A	CCDS8112.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.313980	0.95655	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.19806	2.12;2.12	4.89	4.89	0.63831	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086427	0.47852	N	0.000209	T	0.44519	0.1297	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42050	-0.9474	10	0.87932	D	0	-40.47	15.5686	0.76313	0.0:0.0:1.0:0.0	.	172	O14753	OVOL1_HUMAN	Q	172;110	ENSP00000337862:R172Q;ENSP00000434220:R110Q	ENSP00000337862:R172Q	R	+	2	0	0	OVOL1	65319099	65319099	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.787000	0.99055	2.266000	0.75297	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_004561			35	34		123	122	1		1	1		0	0	35	0		1	4.049427e-01	0	2	0	4	0	35	123
SNX32	254122	broad.mit.edu	37	11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	rs138424932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	366					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			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)		AAGTCCCGCCGGGTCTCCTCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14681	0.0		0.0	False		,,,				2504	0.001					ENST00000308342.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1096-1098)cGg>cAg		sorting nexin 32		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	86.0	91.0	89.0		1097	3.4	0.0	11	dbSNP_134	89	1,8593		0,1,4296	yes	missense	SNX32	NM_152760.2	43	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	366/404	65620368	2,12994	2201	4297	6498	SO:0001583	missense	254122	11	121412	44				g.chr11:65620368G>A	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.1097G>A	chr11.hg19:g.65620368G>A	ENSP00000310620:p.Arg366Gln	0						p.R366Q	NM_152760.2	NP_689973.2	1	2	3	1.991067	Q86XE0	SNX32_HUMAN		12	1522	+			Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	1	1	hg19	c.1097G>A	CCDS8113.2	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886891	0.91814	2.27E-4	1.16E-4	ENSG00000172803	ENST00000308342	T	0.41400	1.0	4.31	3.4	0.38934	4.31	3.4	0.38934	.	0.337367	0.21484	N	0.073800	T	0.60971	0.2310	M	0.82193	2.58	0.34384	D	0.693416	D	0.69078	0.997	P	0.61477	0.889	T	0.74000	-0.3805	10	0.87932	D	0	-4.7579	9.9529	0.41649	0.0999:0.0:0.9001:0.0	.	366	Q86XE0	SNX32_HUMAN	Q	366	ENSP00000310620:R366Q	ENSP00000310620:R366Q	R	+	2	0	0	SNX32	65376944	65376944	1.000000	0.71417	0.045000	0.18777	0.981000	0.71138	6.924000	0.75823	1.045000	0.40225	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-2.483435	0	0.170000	NM_152760			113	110		556	544	1		1	0		0	0	131	0		1	2.898801e-02	0	0	0	2	0	113	556
MUS81	80198	broad.mit.edu	37	11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	223	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622								Homologous recombination																														ENST00000308110.4	1.000000	0.690000	1	8.500000e-01	0.990000	0.947826	0.990000	1.000000																										0				13						c.(667-669)Agc>Cgc	Homologous recombination	MUS81 structure-specific endonuclease subunit							51.0	52.0	52.0					11																	65630597		2201	4296	6497	SO:0001583	missense	80198	0	0					g.chr11:65630597A>C		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.667A>C	chr11.hg19:g.65630597A>C	ENSP00000307853:p.Ser223Arg	0					MUS81_ENST00000533035.1_Missense_Mutation_p.S148R|CFL1_ENST00000534769.1_5'Flank	p.S223R	NM_025128.4	NP_079404.3	1	2	3	1.991067	Q96NY9	MUS81_HUMAN		7	1016	+			Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	1	1	hg19	c.667A>C	CCDS8115.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.51|14.51	2.558063|2.558063	0.45590|0.45590	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.14516	.|2.5;2.72	4.78|4.78	-2.22|-2.22	0.06952|0.06952	4.78|4.78	-2.22|-2.22	0.06952|0.06952	.|.	.|0.779640	.|0.13225	.|N	.|0.404068	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.24006	.|0.05	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.13853	.|T	.|0.58	-7.4028|-7.4028	11.6687|11.6687	0.51389|0.51389	0.3839:0.0:0.6161:0.0|0.3839:0.0:0.6161:0.0	.|.	.|223	.|Q96NY9	.|MUS81_HUMAN	A|R	147;118|148;223;223	.|ENSP00000432287:S148R;ENSP00000307853:S223R	.|ENSP00000307853:S223R	E|S	+|+	2|1	0|0	0|0	MUS81|MUS81	65387173|65387173	65387173|65387173	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.669000|0.669000	0.39330|0.39330	0.094000|0.094000	0.15107|0.15107	-0.275000|-0.275000	0.09219|0.09219	0.454000|0.454000	0.30748|0.30748	GAG|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_025128			26	25		272	270	1		1	1		0	0	45	0		9.999999e-01	9.945880e-01	0	11	0	77	0	26	272
MUS81	80198	broad.mit.edu	37	11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CFL1_ENST00000534769.1_5'Flank|EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	336	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607								Homologous recombination																														ENST00000308110.4	1.000000	0.820000	1	9.400000e-01	0.990000	0.979332	0.990000	1.000000																										0				13						c.(1006-1008)Cga>Tga	Homologous recombination	MUS81 structure-specific endonuclease subunit							101.0	101.0	101.0					11																	65631319		2201	4296	6497	SO:0001587	stop_gained	80198	0	0					g.chr11:65631319C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1006C>T	chr11.hg19:g.65631319C>T	ENSP00000307853:p.Arg336*	0					MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*|CFL1_ENST00000534769.1_5'Flank|EFEMP2_ENST00000532648.1_5'Flank	p.R336*	NM_025128.4	NP_079404.3	1	2	3	1.991067	Q96NY9	MUS81_HUMAN		10	1355	+			Q9H7D9	Nonsense_Mutation	SNP	ENST00000308110.4	0	1	hg19	c.1006C>T	CCDS8115.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.318799|6.318799	0.97471|0.97471	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|.	.|.	.|.	5.95|5.95	4.99|4.99	0.66335|0.66335	5.95|5.95	4.99|4.99	0.66335|0.66335	.|.	.|0.098845	.|0.64402	.|D	.|0.000003	T|.	0.26882|.	0.0658|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22941|.	-1.0202|.	3|.	.|0.02654	.|T	.|1	-29.869|-29.869	11.4698|11.4698	0.50261|0.50261	0.2847:0.7153:0.0:0.0|0.2847:0.7153:0.0:0.0	.|.	.|.	.|.	.|.	V|X	261;217|261;336;336	.|.	.|ENSP00000307853:R336X	A|R	+|+	2|1	0|2	0|2	MUS81|MUS81	65387895|65387895	65387895|65387895	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.316000|0.316000	0.28119|0.28119	2.299000|2.299000	0.43611|0.43611	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	GCG|CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-15.177750	1	0.170000	NM_025128			54	53		537	531	1		1	1		0	0	116	0		1	9.999367e-01	0	2	0	138	0	54	537
MUS81	80198	broad.mit.edu	37	11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.V299I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	374					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637								Homologous recombination																														ENST00000308110.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1120-1122)Gtc>Atc	Homologous recombination	MUS81 structure-specific endonuclease subunit							119.0	88.0	99.0					11																	65632028		2201	4296	6497	SO:0001583	missense	80198	1	121412	35				g.chr11:65632028G>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1120G>A	chr11.hg19:g.65632028G>A	ENSP00000307853:p.Val374Ile	0					MUS81_ENST00000533035.1_Missense_Mutation_p.V299I|EFEMP2_ENST00000532648.1_5'Flank	p.V374I	NM_025128.4	NP_079404.3	1	2	3	1.991067	Q96NY9	MUS81_HUMAN		11	1469	+			Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	1	1	hg19	c.1120G>A	CCDS8115.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250794|1.250794	0.22880|0.22880	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.21734	.|1.99;1.99	5.91|5.91	1.65|1.65	0.23941|0.23941	5.91|5.91	1.65|1.65	0.23941|0.23941	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.538442	.|0.20786	.|N	.|0.085704	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	.|B	.|0.33807	.|0.426	.|B	.|0.19666	.|0.026	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.22706	.|T	.|0.39	-1.4659|-1.4659	9.3054|9.3054	0.37872|0.37872	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|374	.|Q96NY9	.|MUS81_HUMAN	H|I	299|299;374;374	.|ENSP00000432287:V299I;ENSP00000307853:V374I	.|ENSP00000307853:V374I	R|V	+|+	2|1	0|0	0|0	MUS81|MUS81	65388604|65388604	65388604|65388604	0.030000|0.030000	0.19436|0.19436	0.000000|0.000000	0.03702|0.03702	0.568000|0.568000	0.35870|0.35870	2.068000|2.068000	0.41471|0.41471	0.052000|0.052000	0.16007|0.16007	0.555000|0.555000	0.69702|0.69702	CGT|GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.430147	1	0.170000	NM_025128			51	50		231	227	1		1	1		0	0	40	0		1	1	0	28	0	107	0	51	231
EFEMP2	30008	broad.mit.edu	37	11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000307998.6	-	7	876	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	216	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607																																						ENST00000307998.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(646-648)Cgc>Tgc		EGF containing fibulin-like extracellular matrix protein 2							90.0	95.0	93.0					11																	65637409		2201	4296	6497	SO:0001583	missense	30008	1	121412	34				g.chr11:65637409G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.646C>T	chr11.hg19:g.65637409G>A	ENSP00000309953:p.Arg216Cys	0					EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C|EFEMP2_ENST00000532648.1_5'Flank	p.R216C	NM_016938.4	NP_058634.4	1	2	3	1.991067	O95967	FBLN4_HUMAN		7	876	-			A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	1	1	hg19	c.646C>T	CCDS8116.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.90010	0.6881	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.88	D	0.89846	0.4006	10	0.56958	D	0.05	.	12.1058	0.53811	0.0:0.0:0.8283:0.1716	.	216;216	E9PRU1;O95967	.;FBLN4_HUMAN	C	216	ENSP00000434151:R216C;ENSP00000309953:R216C	ENSP00000309953:R216C	R	-	1	0	0	EFEMP2	65393985	65393985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.489000	0.45285	2.644000	0.89710	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	0	0	1		15	11	2	1		1	1	145		145	143	1	2.060000	-20.000000	1	0.170000	NM_016938			119	114		454	447	1		1	0		1	0	145	0		1	1	0	1	0	386	0	119	454
BANF1	8815	broad.mit.edu	37	11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|EIF1AD_ENST00000529964.1_5'Flank|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000527249.1_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|EIF1AD_ENST00000526451.1_5'Flank|BANF1_ENST00000524628.1_Intron|EIF1AD_ENST00000533544.1_5'Flank	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	19					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)			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542																																						ENST00000312175.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(55-57)Cca>Aca		barrier to autointegration factor 1							45.0	46.0	45.0					11																	65770776		2201	4293	6494	SO:0001583	missense	8815	0	0					g.chr11:65770776C>A	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.55C>A	chr11.hg19:g.65770776C>A	ENSP00000310275:p.Pro19Thr	0					EIF1AD_ENST00000533544.1_5'Flank|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|EIF1AD_ENST00000527249.1_5'Flank|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|EIF1AD_ENST00000529964.1_5'Flank|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|EIF1AD_ENST00000526451.1_5'Flank	p.P19T	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	1	2	3	1.991067	O75531	BAF_HUMAN		2	563	+			O60558|Q6FGG7	Missense_Mutation	SNP	ENST00000312175.2	1	1	hg19	c.55C>A	CCDS8125.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074526	0.76415	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000530204;ENST00000533166;ENST00000527348	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.57	4.57	0.56435	4.57	4.57	0.56435	.	0.115747	0.64402	D	0.000013	T	0.55986	0.1955	.	.	.	0.53688	D	0.999979	P	0.35174	0.488	P	0.46850	0.529	T	0.51164	-0.8740	9	0.25106	T	0.35	-0.3442	14.8945	0.70633	0.0:1.0:0.0:0.0	.	19	O75531	BAF_HUMAN	T	19	ENSP00000310275:P19T;ENSP00000416128:P19T;ENSP00000431785:P19T;ENSP00000433760:P19T;ENSP00000432867:P19T	ENSP00000310275:P19T	P	+	1	0	0	BANF1	65527352	65527352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.197000	0.51028	2.381000	0.81170	0.650000	0.86243	CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391340.1	1	0	1		2	2	2	0		0	0	47		47	48	1	2.060000	-20.000000	1	0.170000	NM_003860			41	39		153	148	1		1	1		0	0	47	0		1	1	0	344	0	700	0	41	153
CATSPER1	117144	broad.mit.edu	37	11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	750					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)			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						CTGCTCCTGCTCCACGCTTGC	0.652																																						ENST00000312106.5	1.000000	0.620000	1	8.200000e-01	0.990000	0.936543	0.990000	1.000000																										0				44						c.(2248-2250)gAg>gCg		cation channel, sperm associated 1							49.0	41.0	44.0					11																	65784598		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65784598T>G	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.2249A>C	chr11.hg19:g.65784598T>G	ENSP00000309052:p.Glu750Ala	0						p.E750A	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		11	2386	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.2249A>C	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191042	0.58017	.	.	ENSG00000175294	ENST00000312106	D	0.97870	-4.58	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.32578	U	0.005910	D	0.97390	0.9146	L	0.34521	1.04	0.35202	D	0.774331	D	0.76494	0.999	D	0.80764	0.994	D	0.99951	1.1543	10	0.72032	D	0.01	-30.7008	11.8523	0.52417	0.0:0.0:0.0:1.0	.	750	Q8NEC5	CTSR1_HUMAN	A	750	ENSP00000309052:E750A	ENSP00000309052:E750A	E	-	2	0	0	CATSPER1	65541174	65541174	1.000000	0.71417	0.888000	0.34837	0.286000	0.27126	4.556000	0.60775	2.048000	0.60808	0.524000	0.50904	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-7.435773	1	0.170000	NM_053054			15	15		154	152	0		1	0		0	0	36	0		9.998864e-01	1.369243e-01	0	1	0	6	0	15	154
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					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.L504I(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						AAGTACGAGAGGCCCAGGGCG	0.577																																						ENST00000312106.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L504I(1)	large_intestine(1)	44						c.(1510-1512)Ctc>Atc		cation channel, sperm associated 1							147.0	131.0	137.0					11																	65789270		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65789270G>T	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.1510C>A	chr11.hg19:g.65789270G>T	ENSP00000309052:p.Leu504Ile	0						p.L504I	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		3	1647	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.1510C>A	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	0	CATSPER1	65545846	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_053054			71	70		288	283	1		1			0	0	99	0		1	0	0	0	0	0	0	71	288
CATSPER1	117144	broad.mit.edu	37	11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	450					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)			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						ATGAAAGTTTCAAAGGCCAAG	0.537											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312106.5	1.000000	0.580000	1	6.900000e-01	0.830000	0.835493	0.830000	1.000000																										0				44						c.(1348-1350)Gaa>Aaa		cation channel, sperm associated 1							110.0	107.0	108.0					11																	65790401		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65790401C>T	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.1348G>A	chr11.hg19:g.65790401C>T	ENSP00000309052:p.Glu450Lys	0		OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.E450K	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		2	1485	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.1348G>A	CCDS8127.1	0	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423332	0.83559	.	.	ENSG00000175294	ENST00000312106	D	0.97642	-4.47	5.62	4.71	0.59529	5.62	4.71	0.59529	.	0.000000	0.33272	N	0.005097	D	0.95834	0.8644	L	0.47190	1.495	0.28563	N	0.911045	P	0.37573	0.6	P	0.45343	0.477	D	0.92427	0.5950	10	0.44086	T	0.13	-18.6629	11.9808	0.53119	0.1731:0.8269:0.0:0.0	.	450	Q8NEC5	CTSR1_HUMAN	K	450	ENSP00000309052:E450K	ENSP00000309052:E450K	E	-	1	0	0	CATSPER1	65546977	65546977	1.000000	0.71417	0.138000	0.22173	0.034000	0.12701	3.104000	0.50306	1.372000	0.46190	0.563000	0.77884	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.318795	1	0.170000	NM_053054			33	32		439	431	0		1			0	0	85	0		1	0	0	0	0	0	0	33	439
CATSPER1	117144	broad.mit.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					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)			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						GACTCCTGTACGAGAAGCAGC	0.597																																						ENST00000312106.5	1.000000	0.740000	1	9.000000e-01	0.990000	0.966562	0.990000	1.000000																										0				44						c.(1033-1035)cGt>cAt		cation channel, sperm associated 1							120.0	97.0	105.0					11																	65792817		2201	4296	6497	SO:0001583	missense	117144	2	121412	35				g.chr11:65792817C>T	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.1034G>A	chr11.hg19:g.65792817C>T	ENSP00000309052:p.Arg345His	0						p.R345H	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		1	1171	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.1034G>A	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	0	CATSPER1	65549393	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-10.188000	1	0.170000	NM_053054			28	28		276	269	0		1			0	0	48	0		1	0	0	0	0	0	0	28	276
CATSPER1	117144	broad.mit.edu	37	11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	265	His-rich.				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)			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						gtggtactcgctgtgatagtC	0.577																																						ENST00000312106.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998335	0.990000	1.000000																										0				44						c.(793-795)aGc>aAc		cation channel, sperm associated 1							156.0	133.0	141.0					11																	65793057		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65793057C>T	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.794G>A	chr11.hg19:g.65793057C>T	ENSP00000309052:p.Ser265Asn	0						p.S265N	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		1	931	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	0	1	hg19	c.794G>A	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919916	0.17982	.	.	ENSG00000175294	ENST00000312106	D	0.96716	-4.1	3.21	-3.69	0.04450	3.21	-3.69	0.04450	.	.	.	.	.	D	0.90738	0.7093	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.80834	-0.1205	9	0.59425	D	0.04	.	1.6208	0.02713	0.134:0.3752:0.1319:0.3588	.	265	Q8NEC5	CTSR1_HUMAN	N	265	ENSP00000309052:S265N	ENSP00000309052:S265N	S	-	2	0	0	CATSPER1	65549633	65549633	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.870000	0.01641	-0.918000	0.03808	0.460000	0.39030	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-10.250010	1	0.170000	NM_053054			14	13		75	73	0		1			0	0	11	0		9.997930e-01	0	0	0	0	0	0	14	75
CATSPER1	117144	broad.mit.edu	37	11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	153	His-rich.				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)			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						CACCGAGATATTGGGGTCTGC	0.567																																						ENST00000312106.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(457-459)caA>caC		cation channel, sperm associated 1							60.0	53.0	56.0					11																	65793392		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65793392T>G	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.459A>C	chr11.hg19:g.65793392T>G	ENSP00000309052:p.Gln153His	0						p.Q153H	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		1	596	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.459A>C	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065727	0.07273	.	.	ENSG00000175294	ENST00000312106	D	0.96774	-4.12	3.04	-4.23	0.03789	3.04	-4.23	0.03789	.	.	.	.	.	T	0.81631	0.4863	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76647	-0.2882	9	0.13470	T	0.59	.	1.3325	0.02138	0.3008:0.1408:0.4097:0.1487	.	153	Q8NEC5	CTSR1_HUMAN	H	153	ENSP00000309052:Q153H	ENSP00000309052:Q153H	Q	-	3	2	2	CATSPER1	65549968	65549968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.741000	0.04855	-1.075000	0.03129	-0.940000	0.02684	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_053054			54	54		235	227	1		1			0	0	54	0		1	0	0	0	0	0	0	54	235
CATSPER1	117144	broad.mit.edu	37	11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				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)			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						AGACCAAAGCCTGTGGGGCCA	0.602																																						ENST00000312106.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(283-285)Ggc>Agc		cation channel, sperm associated 1							145.0	129.0	134.0					11																	65793568		2201	4296	6497	SO:0001583	missense	117144	0	0					g.chr11:65793568C>T	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.283G>A	chr11.hg19:g.65793568C>T	ENSP00000309052:p.Gly95Ser	0						p.G95S	NM_053054.3	NP_444282.3	1	2	3	1.991067	Q8NEC5	CTSR1_HUMAN		1	420	-			Q96P76	Missense_Mutation	SNP	ENST00000312106.5	1	1	hg19	c.283G>A	CCDS8127.1	1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585676	0.13749	.	.	ENSG00000175294	ENST00000312106	D	0.96265	-3.96	3.33	-5.16	0.02857	3.33	-5.16	0.02857	.	2.916730	0.01422	N	0.014386	D	0.91888	0.7432	L	0.43923	1.385	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.79546	-0.1759	10	0.72032	D	0.01	6.2679	0.6048	0.00750	0.3187:0.2782:0.1112:0.2919	.	95	Q8NEC5	CTSR1_HUMAN	S	95	ENSP00000309052:G95S	ENSP00000309052:G95S	G	-	1	0	0	CATSPER1	65550144	65550144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.734000	0.04843	-0.314000	0.08810	GGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000	NM_053054			127	123		591	583	1		1			0	0	130	0		1	0	0	0	0	0	0	127	591
GAL3ST3	89792	broad.mit.edu	37	11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	89					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662																																						ENST00000312006.4	1.000000	0.680000	1	8.600000e-01	0.990000	0.950583	0.990000	1.000000																										0				14						c.(265-267)Cgc>Tgc		galactose-3-O-sulfotransferase 3							31.0	26.0	27.0					11																	65811009		2201	4295	6496	SO:0001583	missense	89792	4	121228	31				g.chr11:65811009G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.265C>T	chr11.hg19:g.65811009G>A	ENSP00000308591:p.Arg89Cys	0					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	p.R89C	NM_033036.2	NP_149025.1	1	2	3	1.991067	Q96A11	G3ST3_HUMAN		3	546	-			Q14D05	Missense_Mutation	SNP	ENST00000312006.4	1	1	hg19	c.265C>T	CCDS8128.1	1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859821	0.17178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.49	3.51	0.40186	4.49	3.51	0.40186	.	0.151298	0.42548	D	0.000688	D	0.98947	0.9642	M	0.79011	2.435	0.50467	D	0.999871	B	0.21753	0.06	B	0.15484	0.013	D	0.99917	1.1232	10	0.66056	D	0.02	-23.8739	10.4288	0.44395	0.0:0.0:0.7013:0.2987	.	89	Q96A11	G3ST3_HUMAN	C	89	ENSP00000308591:R89C;ENSP00000434829:R89C	ENSP00000308591:R89C	R	-	1	0	0	GAL3ST3	65567585	65567585	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.107000	0.41844	2.213000	0.71641	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_033036			20	20		202	201	0		1			0	0	31	0		9.999962e-01	0	0	0	0	0	0	20	202
SF3B2	10992	broad.mit.edu	37	11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000322535.6	+	15	1855	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	SF3B2_ENST00000528302.1_Missense_Mutation_p.K585N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	602				K -> E (in Ref. 1; BAF83539). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACGACTGAAGGAGAAGAAGC	0.517																																						ENST00000322535.6	1.000000	0.380000	8.600000e-01	5.000000e-01	0.660000	0.680612	0.660000	1.000000																										0				41						c.(1804-1806)aaG>aaT		splicing factor 3b, subunit 2, 145kDa							132.0	129.0	130.0					11																	65829183		2201	4295	6496	SO:0001583	missense	10992	0	0					g.chr11:65829183G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1806G>T	chr11.hg19:g.65829183G>T	ENSP00000318861:p.Lys602Asn	0					SF3B2_ENST00000528302.1_Missense_Mutation_p.K585N	p.K602N	NM_006842.2	NP_006833.2	1	2	3	1.991067	Q13435	SF3B2_HUMAN		15	1855	+			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	1	1	hg19	c.1806G>T	CCDS31612.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295452|4.295452	0.81025|0.81025	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.65|5.65	4.74|4.74	0.60224|0.60224	5.65|5.65	4.74|4.74	0.60224|0.60224	PSP, proline-rich (1);|.	0.093473|.	0.64402|.	D|.	0.000001|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.78588|0.78588	-0.2146|-0.2146	9|5	0.87932|.	D|.	0|.	-34.11|-34.11	12.2431|12.2431	0.54555|0.54555	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	602|.	Q13435|.	SF3B2_HUMAN|.	N|M	585;602;506|23	.|.	ENSP00000318861:K602N|.	K|R	+|+	3|2	2|0	2|0	SF3B2|SF3B2	65585759|65585759	65585759|65585759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.361000|3.361000	0.52306|0.52306	1.393000|1.393000	0.46605|0.46605	0.557000|0.557000	0.71058|0.71058	AAG|AGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.018304	1	0.170000				15	15		260	252	1		1	1		0	0	55	0		9.998549e-01	1	0	108	0	760	0	15	260
PACS1	55690	broad.mit.edu	37	11	65988131	65988131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	356					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)		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						ATGTGTCCCGCGAGCAGATCC	0.507																																						ENST00000320580.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																									RBM14/PACS1(2)	0				37						c.(1066-1068)cgC>cgT		phosphofurin acidic cluster sorting protein 1							94.0	88.0	90.0					11																	65988131		2201	4295	6496	SO:0001819	synonymous_variant	55690	1	121412	29				g.chr11:65988131C>T	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.1068C>T	chr11.hg19:g.65988131C>T		0						p.R356R	NM_018026.3	NP_060496.2	1	2	3	1.991067	Q6VY07	PACS1_HUMAN		9	1101	+			Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	1	1	hg19	c.1068C>T	CCDS8129.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_018026			44	44		248	243	1		1	1		0	0	74	0		1	1	0	27	0	199	0	44	248
KLC2	64837	broad.mit.edu	37	11	66033168	66033168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000417856.1	+	12	1620	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	KLC2_ENST00000421552.1_Silent_p.Y382Y|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394067.2_Silent_p.Y459Y|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394065.2_Silent_p.Y320Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000394078.1_Intron|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000311481.6_5'Flank	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	459					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						GGGCCCTATACCGGCGCCAGG	0.652																																						ENST00000417856.1	1.000000	0.310000	7.700000e-01	4.200000e-01	0.570000	0.601365	0.570000	0.550000																										0				24						c.(1375-1377)taC>taT		kinesin light chain 2							32.0	31.0	31.0					11																	66033168		2200	4295	6495	SO:0001819	synonymous_variant	64837	0	0					g.chr11:66033168C>T	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.1377C>T	chr11.hg19:g.66033168C>T		0					RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000316924.5_Silent_p.Y459Y|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394065.2_Silent_p.Y320Y|KLC2_ENST00000394078.1_Intron|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000421552.1_Silent_p.Y382Y	p.Y459Y	NM_001134775.1	NP_001128247.1	1	2	3	1.991067	Q9H0B6	KLC2_HUMAN		12	1620	+			A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	1	1	hg19	c.1377C>T	CCDS8130.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-14.142480	1	0.170000	NM_022822			12	11		243	238	0		1	1		0	0	27	0		9.990514e-01	9.685919e-01	0	7	0	114	0	12	243
RAB1B	81876	broad.mit.edu	37	11	66043577	66043577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	CNIH2_ENST00000528852.1_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RAB1B_ENST00000527397.1_Silent_p.V126V|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	158					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582																																						ENST00000311481.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				5						c.(472-474)gtC>gtT		RAB1B, member RAS oncogene family							49.0	47.0	48.0					11																	66043577		2200	4295	6495	SO:0001819	synonymous_variant	81876	0	0					g.chr11:66043577C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.474C>T	chr11.hg19:g.66043577C>T		0					RAB1B_ENST00000527397.1_Silent_p.V126V|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.4_ENST00000528650.1_RNA|CNIH2_ENST00000528852.1_5'Flank|CNIH2_ENST00000311445.6_5'Flank	p.V158V	NM_030981.2	NP_112243.1	1	2	3	1.991067	Q9H0U4	RAB1B_HUMAN		6	621	+			A8K7S1	Silent	SNP	ENST00000311481.6	1	1	hg19	c.474C>T	CCDS31613.1	1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212752	0.09757	.	.	ENSG00000174903	ENST00000314965	.	.	.	3.9	-7.79	0.01218	3.9	-7.79	0.01218	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59332	-0.7474	5	0.52906	T	0.07	.	2.8061	0.05428	0.1647:0.0972:0.3771:0.361	.	.	.	.	L	158	.	ENSP00000313814:S158L	S	+	2	0	0	RAB1B	65800153	65800153	0.002000	0.14202	0.181000	0.23098	0.807000	0.45602	-1.994000	0.01474	-3.387000	0.00174	0.313000	0.20887	TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_030981			24	24		112	110	1		1	1		0	0	27	0		9.999998e-01	1	0	215	0	680	0	24	112
RAB1B	81876	broad.mit.edu	37	11	66043694	66043694	+	Silent	SNP	C	C	T	rs368830540		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	CNIH2_ENST00000528852.1_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RAB1B_ENST00000527397.1_Silent_p.G165G|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	197					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632																																						ENST00000311481.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				5						c.(589-591)ggC>ggT		RAB1B, member RAS oncogene family		C		0,4396		0,0,2198	12.0	14.0	14.0		591	-5.9	0.8	11		14	1,8581		0,1,4290	no	coding-synonymous	RAB1B	NM_030981.2		0,1,6488	TT,TC,CC		0.0117,0.0,0.0077		197/202	66043694	1,12977	2198	4291	6489	SO:0001819	synonymous_variant	81876	3	121292	29				g.chr11:66043694C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.591C>T	chr11.hg19:g.66043694C>T		0					RAB1B_ENST00000527397.1_Silent_p.G165G|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.4_ENST00000528650.1_RNA|CNIH2_ENST00000528852.1_5'Flank|CNIH2_ENST00000311445.6_5'Flank	p.G197G	NM_030981.2	NP_112243.1	1	2	3	1.991067	Q9H0U4	RAB1B_HUMAN		6	738	+			A8K7S1	Silent	SNP	ENST00000311481.6	1	1	hg19	c.591C>T	CCDS31613.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_030981			17	16		62	62	1		1	1		0	0	19	0		9.999818e-01	1	0	156	0	575	0	17	62
YIF1A	10897	broad.mit.edu	37	11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000376901.4	-	8	971	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	263					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652																																						ENST00000376901.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(787-789)Gtc>Atc		Yip1 interacting factor homolog A (S. cerevisiae)		C	ILE/VAL	1,4383		0,1,2191	17.0	22.0	20.0		787	3.7	0.0	11	dbSNP_134	20	0,8550		0,0,4275	no	missense	YIF1A	NM_020470.2	29	0,1,6466	TT,TC,CC		0.0,0.0228,0.0077	benign	263/294	66052203	1,12933	2192	4275	6467	SO:0001583	missense	10897	6	121046	36				g.chr11:66052203C>T	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.787G>A	chr11.hg19:g.66052203C>T	ENSP00000366098:p.Val263Ile	0					YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000471387.2_Silent_p.P149P	p.V263I	NM_020470.2	NP_065203.2	1	2	3	1.991067	O95070	YIF1A_HUMAN		8	971	-			A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	1	1	hg19	c.787G>A	CCDS8132.1	1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	2.28E-4	0.0	ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904	T;T	0.43688	0.94;0.94	5.66	3.72	0.42706	5.66	3.72	0.42706	.	0.739902	0.13028	N	0.419526	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.26202	0.067	T	0.26018	-1.0115	10	0.30078	T	0.28	-9.9507	10.6611	0.45702	0.0:0.7933:0.1328:0.074	.	263	O95070	YIF1A_HUMAN	I	49;211;263;267	ENSP00000352437:V211I;ENSP00000366098:V263I	ENSP00000352437:V211I	V	-	1	0	0	YIF1A	65808779	65808779	0.005000	0.15991	0.001000	0.08648	0.073000	0.16967	1.543000	0.36147	0.700000	0.31782	0.561000	0.74099	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.610848	1	0.170000	NM_020470			50	50		185	182	1		1	1		0	0	26	0		1	1	0	198	0	332	0	50	185
TMEM151A	256472	broad.mit.edu	37	11	66062461	66062461	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	248						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687																																						ENST00000327259.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				11						c.(742-744)ggC>ggA		transmembrane protein 151A							14.0	11.0	12.0					11																	66062461		2139	4144	6283	SO:0001819	synonymous_variant	256472	0	0					g.chr11:66062461C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.744C>A	chr11.hg19:g.66062461C>A		0						p.G248G	NM_153266.3	NP_694998.1	1	2	3	1.991067	Q8N4L1	T151A_HUMAN		2	888	+			Q8ND14	Silent	SNP	ENST00000327259.4	1	1	hg19	c.744C>A	CCDS8133.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_153266			19	19		61	61	1		1	1		0	0	24	0		9.999965e-01	5.328922e-01	0	2	0	5	0	19	61
CD248	57124	broad.mit.edu	37	11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	334	EGF-like; calcium-binding. {ECO:0000255}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAATAACACTCGAAGCCACCA	0.607																																						ENST00000311330.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1000-1002)Gag>Aag		CD248 molecule, endosialin							64.0	51.0	56.0					11																	66083499		2200	4295	6495	SO:0001583	missense	57124	0	0					g.chr11:66083499C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1000G>A	chr11.hg19:g.66083499C>T	ENSP00000308117:p.Glu334Lys	0					RP11-867G23.13_ENST00000534065.1_RNA	p.E334K	NM_020404.2	NP_065137.1	1	2	3	1.991067	Q9HCU0	CD248_HUMAN		1	1016	-			Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	1	1	hg19	c.1000G>A	CCDS8134.1	1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611796	0.66558	.	.	ENSG00000174807	ENST00000311330	D	0.92149	-2.98	4.56	4.56	0.56223	4.56	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	1.102050	0.07089	N	0.838496	D	0.93360	0.7883	L	0.27975	0.815	0.41655	D	0.989157	D	0.76494	0.999	D	0.69654	0.965	D	0.88052	0.2788	10	0.39692	T	0.17	-13.7102	14.8448	0.70251	0.0:1.0:0.0:0.0	.	334	Q9HCU0	CD248_HUMAN	K	334	ENSP00000308117:E334K	ENSP00000308117:E334K	E	-	1	0	0	CD248	65840075	65840075	0.943000	0.32029	0.996000	0.52242	0.741000	0.42261	1.916000	0.39986	2.350000	0.79820	0.462000	0.41574	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.592118	1	0.170000	NM_020404			45	45		171	171	1		1	0		0	0	57	0		1	1	0	0	0	294	0	45	171
RIN1	9610	broad.mit.edu	37	11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000311320.4	-	6	985	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	287					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711																																						ENST00000311320.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				14						c.(859-861)Cta>Ata		Ras and Rab interactor 1							16.0	14.0	15.0					11																	66102411		2194	4292	6486	SO:0001583	missense	9610	0	0					g.chr11:66102411G>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.859C>A	chr11.hg19:g.66102411G>T	ENSP00000310406:p.Leu287Ile	0					RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	p.L287I	NM_004292.2	NP_004283.2	1	2	3	1.991067	Q13671	RIN1_HUMAN		6	985	-			O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	1	1	hg19	c.859C>A	CCDS31614.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741447	0.49151	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.93;2.74;2.25	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.428856	0.18284	N	0.145939	T	0.28234	0.0697	M	0.61703	1.905	0.28014	N	0.934784	B;D	0.58268	0.32;0.982	B;P	0.51657	0.081;0.676	T	0.06588	-1.0818	10	0.49607	T	0.09	-10.9273	12.5372	0.56147	0.0:0.0:1.0:0.0	.	182;287	E9PNR2;Q13671	.;RIN1_HUMAN	I	287;182;182	ENSP00000310406:L287I;ENSP00000400560:L182I;ENSP00000432798:L182I	ENSP00000310406:L287I	L	-	1	2	2	RIN1	65858987	65858987	0.968000	0.33430	0.996000	0.52242	0.376000	0.30014	1.680000	0.37607	2.099000	0.63709	0.462000	0.41574	CTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_004292			22	22		99	97	1		1	1		0	0	21	0		9.999993e-01	9.981223e-01	0	21	0	28	0	22	99
BRMS1	25855	broad.mit.edu	37	11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	34					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3	1.000000	0.710000	1	8.600000e-01	0.990000	0.951582	0.990000	1.000000																										0				5						c.(100-102)Cgg>Tgg		breast cancer metastasis suppressor 1							159.0	121.0	134.0					11																	66109606		2200	4295	6495	SO:0001583	missense	25855	0	0					g.chr11:66109606G>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.100C>T	chr11.hg19:g.66109606G>A	ENSP00000353042:p.Arg34Trp	0					RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	p.R34W	NM_015399.3	NP_056214.1	1	2	3	1.991067	Q9HCU9	BRMS1_HUMAN		2	260	-			Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	1	1	hg19	c.100C>T	CCDS8135.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031453	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.435802	0.22217	N	0.063014	T	0.38639	0.1048	L	0.36672	1.1	0.31392	N	0.677761	D;D	0.67145	0.979;0.996	B;P	0.47573	0.183;0.55	T	0.50808	-0.8784	9	0.87932	D	0	-21.9512	11.0319	0.47779	0.0:0.1891:0.8109:0.0	.	34;34	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	W	34	.	ENSP00000353042:R34W	R	-	1	2	2	BRMS1	65866182	65866182	0.865000	0.29922	0.991000	0.47740	0.987000	0.75469	3.129000	0.50500	2.234000	0.73211	0.591000	0.81541	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000	NM_015399			30	30		314	302	1		1	1		0	0	47	0		1	9.999999e-01	0	46	0	225	0	30	314
SLC29A2	3177	broad.mit.edu	37	11	66136654	66136654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	ENST00000357440.2	-	4	520	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	98					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)			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)	CCCAGAATGCGCACCGTCTCC	0.652																																						ENST00000357440.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				10						c.(292-294)Cgc>Tgc		solute carrier family 29 (equilibrative nucleoside transporter), member 2	Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)						43.0	36.0	38.0					11																	66136654		2195	4285	6480	SO:0001583	missense	3177	0	0					g.chr11:66136654G>A	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.292C>T	chr11.hg19:g.66136654G>A	ENSP00000350024:p.Arg98Cys	0					SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C	p.R98C	NM_001532.2	NP_001523.2	1	2	3	1.991067	Q14542	S29A2_HUMAN		4	520	-			B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	0	1	hg19	c.292C>T	CCDS8137.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513346	0.44660	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.80653	1.77;-1.4;-1.4;-1.4	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.974	D	0.91518	0.5232	10	0.87932	D	0	-16.9786	9.4636	0.38800	0.0:0.0:0.7887:0.2113	.	98;98	G5E943;Q14542	.;S29A2_HUMAN	C	98	ENSP00000311250:R98C;ENSP00000350024:R98C;ENSP00000439456:R98C;ENSP00000440329:R98C	ENSP00000311250:R98C	R	-	1	0	0	SLC29A2	65893230	65893230	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	4.983000	0.63832	2.207000	0.71202	0.555000	0.69702	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_001532			13	12		31	30	1		1	1		0	0	11	0		9.997206e-01	9.999497e-01	0	27	0	26	0	13	31
NPAS4	266743	broad.mit.edu	37	11	66192584	66192584	+	Silent	SNP	G	G	A	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					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)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587																																						ENST00000311034.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2221-2223)tcG>tcA		neuronal PAS domain protein 4		G		0,4400		0,0,2200	60.0	63.0	62.0		2223	-0.8	0.9	11	dbSNP_134	62	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	AA,AG,GG		0.0233,0.0,0.0154		741/803	66192584	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	266743	2	121406	35				g.chr11:66192584G>A	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.2223G>A	chr11.hg19:g.66192584G>A		0						p.S741S	NM_178864.3	NP_849195.2	1	2	3	1.991067	Q8IUM7	NPAS4_HUMAN		7	2399	+			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	1	1	hg19	c.2223G>A	CCDS8138.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_178864			96	95		375	370	1		1			0	0	77	0		1	0	0	0	0	0	0	96	375
PELI3	246330	broad.mit.edu	37	11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000320740.7	+	8	1484	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.F418L|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000525142.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	442					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)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672																																						ENST00000320740.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				15						c.(1324-1326)Ttc>Ctc		pellino E3 ubiquitin protein ligase family member 3							15.0	15.0	15.0					11																	66243552		2186	4250	6436	SO:0001583	missense	246330	0	0					g.chr11:66243552T>C	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.1324T>C	chr11.hg19:g.66243552T>C	ENSP00000322532:p.Phe442Leu	0					CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.F418L|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA	p.F442L	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	1	2	3	1.991067	Q8N2H9	PELI3_HUMAN		8	1484	+			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	1	1	hg19	c.1324T>C	CCDS31615.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430539	0.83776	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.946;0.977	T	0.69661	-0.5085	10	0.62326	D	0.03	-24.7935	11.9441	0.52918	0.0:0.0:0.0:1.0	.	418;442	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	L	418;442	ENSP00000309848:F418L;ENSP00000322532:F442L	ENSP00000322532:F442L	F	+	1	0	0	PELI3	66000128	66000128	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.712000	0.84684	1.919000	0.55581	0.533000	0.62120	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	1	0	1		2	2	2	0		0	0	15		15	13	1	2.060000	-20.000000	1	0.170000	NM_145065			21	21		74	71	1		1	1		0	0	15	0		9.999987e-01	9.994850e-01	0	11	0	37	0	21	74
DPP3	10072	broad.mit.edu	37	11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A	rs202184719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000360510.2	+	2	259	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000532677.1_Missense_Mutation_p.R84H|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|CTD-3074O7.5_ENST00000527092.1_RNA|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H|CTD-3074O7.5_ENST00000525142.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65					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)			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						CTGCTCAGCCGCCTCTTCCGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18121	0.0		0.0	False		,,,				2504	0.001					ENST00000360510.2	1.000000	0.180000	4.700000e-01	2.600000e-01	0.350000	0.384153	0.350000	0.330000																										0				23						c.(193-195)cGc>cAc		dipeptidyl-peptidase 3							45.0	46.0	45.0					11																	66249865		2200	4295	6495	SO:0001583	missense	10072	8	121412	42				g.chr11:66249865G>A	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.194G>A	chr11.hg19:g.66249865G>A	ENSP00000353701:p.Arg65His	0					CTD-3074O7.5_ENST00000527092.1_RNA|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000532677.1_Missense_Mutation_p.R84H|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H	p.R65H			1	2	3	1.991067	Q9NY33	DPP3_HUMAN		2	259	+			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	1	1	hg19	c.194G>A	CCDS8141.1	0	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518934	0.85495	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	4.81	0.61882	5.71	4.81	0.61882	.	0.155567	0.52532	N	0.000063	T	0.66147	0.2760	M	0.75615	2.305	0.42527	D	0.993026	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.548	T	0.70883	-0.4751	10	0.72032	D	0.01	.	12.79	0.57528	0.0792:0.0:0.9208:0.0	.	84;65	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	85;84;65;65;65;65;65;65;65;65	ENSP00000432782:R85H;ENSP00000435284:R84H;ENSP00000353701:R65H;ENSP00000389943:R65H;ENSP00000440502:R65H;ENSP00000431606:R65H;ENSP00000436941:R65H;ENSP00000436820:R65H;ENSP00000432618:R65H	ENSP00000309957:R65H	R	+	2	0	0	DPP3	66006441	66006441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.129000	0.42055	1.426000	0.47256	-0.222000	0.12452	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-3.525719	1	0.170000				12	12		408	402	0		1	1		0	0	68	0		9.990645e-01	9.767401e-01	0	16	0	201	0	12	408
DPP3	10072	broad.mit.edu	37	11	66254053	66254053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254053C>T	ENST00000360510.2	+	4	468	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q154*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	135					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)			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						GGCTGCTCAGCAGCACCCAGA	0.602																																						ENST00000360510.2	1.000000	0.140000	3.500000e-01	1.900000e-01	0.250000	0.294042	0.250000	0.250000																										0				23						c.(403-405)Cag>Tag		dipeptidyl-peptidase 3							104.0	101.0	102.0					11																	66254053		2200	4295	6495	SO:0001587	stop_gained	10072	0	0					g.chr11:66254053C>T	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.403C>T	chr11.hg19:g.66254053C>T	ENSP00000353701:p.Gln135*	0					DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q154*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*	p.Q135*			1	2	3	1.991067	Q9NY33	DPP3_HUMAN		4	468	+			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	ENST00000360510.2	0	1	hg19	c.403C>T	CCDS8141.1	0	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852859	0.32699	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000347422;ENST00000531354	.	.	.	4.91	2.94	0.34122	4.91	2.94	0.34122	.	0.331918	0.31963	N	0.006796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.0857	0.53695	0.0:0.4526:0.5474:0.0	.	.	.	.	X	155;154;135;135;135;33;105;105;33;33;135;135	.	ENSP00000309957:Q135X	Q	+	1	0	0	DPP3	66010629	66010629	1.000000	0.71417	0.937000	0.37676	0.403000	0.30841	3.073000	0.50057	1.035000	0.39972	0.591000	0.81541	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-3.016851	1	0.170000				14	14		645	632	0		1	0		0	0	120	0		9.997187e-01	8.923724e-01	0	0	0	182	0	14	645
DPP3	10072	broad.mit.edu	37	11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000360510.2	+	5	621	c.556G>A	c.(556-558)Gac>Aac	p.D186N	DPP3_ENST00000532677.1_Missense_Mutation_p.D205N|DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	186					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)			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						ATTGGCCCAGGACTTTCTGGA	0.537																																						ENST00000360510.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(556-558)Gac>Aac		dipeptidyl-peptidase 3							134.0	120.0	125.0					11																	66254796		2200	4295	6495	SO:0001583	missense	10072	0	0					g.chr11:66254796G>A	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.556G>A	chr11.hg19:g.66254796G>A	ENSP00000353701:p.Asp186Asn	0					DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000532677.1_Missense_Mutation_p.D205N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N	p.D186N			1	2	3	1.991067	Q9NY33	DPP3_HUMAN		5	621	+			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	1	1	hg19	c.556G>A	CCDS8141.1	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482673	0.44147	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.89	3.72	0.42706	4.89	3.72	0.42706	.	0.310982	0.39407	N	0.001362	T	0.17662	0.0424	L	0.54965	1.715	0.32206	N	0.577221	B;B	0.15719	0.014;0.005	B;B	0.22152	0.022;0.038	T	0.06356	-1.0831	10	0.32370	T	0.25	.	5.0196	0.14354	0.2599:0.0:0.7401:0.0	.	205;186	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	206;205;186;186;186;84;156;156;84;84;186	ENSP00000432782:D206N;ENSP00000435284:D205N;ENSP00000353701:D186N;ENSP00000389943:D186N;ENSP00000440502:D186N;ENSP00000437101:D84N;ENSP00000431606:D156N;ENSP00000436941:D156N;ENSP00000434518:D84N;ENSP00000432618:D186N	ENSP00000353701:D186N	D	+	1	0	0	DPP3	66011372	66011372	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.591000	0.46163	2.415000	0.81967	0.655000	0.94253	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				57	56		255	250	1		1	1		0	0	61	0		1	1	0	54	0	110	0	57	255
DPP3	10072	broad.mit.edu	37	11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000360510.2	+	6	642	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	DPP3_ENST00000532677.1_Missense_Mutation_p.L212I|DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	193					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)			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						CTTCTAGAACCTCAGTGCCTA	0.562																																						ENST00000360510.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(577-579)Ctc>Atc		dipeptidyl-peptidase 3							79.0	76.0	77.0					11																	66255388		2200	4295	6495	SO:0001583	missense	10072	0	0					g.chr11:66255388C>A	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.577C>A	chr11.hg19:g.66255388C>A	ENSP00000353701:p.Leu193Ile	0					DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000532677.1_Missense_Mutation_p.L212I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I	p.L193I			1	2	3	1.991067	Q9NY33	DPP3_HUMAN		6	642	+			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	1	1	hg19	c.577C>A	CCDS8141.1	1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492621	0.12702	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.0	2.09	0.27110	4.0	2.09	0.27110	.	0.123537	0.56097	D	0.000032	T	0.08447	0.0210	N	0.05554	-0.025	0.34439	D	0.699378	B;B	0.02656	0.0;0.0	B;B	0.12156	0.005;0.007	T	0.26985	-1.0087	10	0.13108	T	0.6	.	7.1169	0.25421	0.1692:0.7354:0.0:0.0954	.	212;193	G3V1D3;Q9NY33	.;DPP3_HUMAN	I	213;212;193;193;193;91;163;163;91;91;193	ENSP00000432782:L213I;ENSP00000435284:L212I;ENSP00000353701:L193I;ENSP00000389943:L193I;ENSP00000440502:L193I;ENSP00000437101:L91I;ENSP00000431606:L163I;ENSP00000436941:L163I;ENSP00000434518:L91I;ENSP00000432618:L193I	ENSP00000353701:L193I	L	+	1	0	0	DPP3	66011964	66011964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.600000	0.36762	0.625000	0.30304	0.563000	0.77884	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-3.279719	1	0.170000				42	41		169	163	1		1	1		0	0	50	0		1	1	0	67	0	103	0	42	169
DPP3	10072	broad.mit.edu	37	11	66259196	66259196	+	Silent	SNP	C	C	T	rs201030149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000360510.2	+	9	1022	c.957C>T	c.(955-957)cgC>cgT	p.R319R	DPP3_ENST00000532677.1_Silent_p.R338R|DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	319					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)			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						AGAGCTACCGCGACCCCTTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		14330	0.001		0.0	False		,,,				2504	0.0					ENST00000360510.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(955-957)cgC>cgT		dipeptidyl-peptidase 3							167.0	170.0	169.0					11																	66259196		2200	4295	6495	SO:0001819	synonymous_variant	10072	12	121412	45				g.chr11:66259196C>T	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.957C>T	chr11.hg19:g.66259196C>T		0					DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000532677.1_Silent_p.R338R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R	p.R319R			1	2	3	1.991067	Q9NY33	DPP3_HUMAN		9	1022	+			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	1	1	hg19	c.957C>T	CCDS8141.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1		2	2	2	0		0	0	235		235	232	1	2.060000	-20.000000	1	0.170000				247	241		1045	1019	1		1	1		0	0	235	0		1	1	0	63	0	138	0	247	1045
ZDHHC24	254359	broad.mit.edu	37	11	66307147	66307147	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000310442.3	-	3	942	c.708C>A	c.(706-708)tcC>tcA	p.S236S	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	236						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711																																						ENST00000310442.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(706-708)tcC>tcA		zinc finger, DHHC-type containing 24							21.0	24.0	23.0					11																	66307147		2198	4292	6490	SO:0001819	synonymous_variant	254359	0	0					g.chr11:66307147G>T	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.708C>A	chr11.hg19:g.66307147G>T		0					CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	p.S236S	NM_207340.1	NP_997223.1	1	2	3	1.991067	Q6UX98	ZDH24_HUMAN		3	942	-			Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	1	1	hg19	c.708C>A	CCDS8143.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-4.053467	1	0.170000	NM_207340			27	27		87	87	1		1	1		0	0	22	0		1	1	0	36	0	110	0	27	87
CCDC87	55231	broad.mit.edu	37	11	66359860	66359860	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	209					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					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						GAGGCCAGGGGATAGGGCACA	0.602																																						ENST00000333861.3	1.000000	0.730000	1	9.000000e-01	0.990000	0.965073	0.990000	1.000000																										0				28						c.(625-627)atC>atA		coiled-coil domain containing 87							63.0	50.0	54.0					11																	66359860		2200	4295	6495	SO:0001819	synonymous_variant	55231	0	0					g.chr11:66359860G>T	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.627C>A	chr11.hg19:g.66359860G>T		0					CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	p.I209I	NM_018219.2	NP_060689.2	1	2	3	1.991067	Q9NVE4	CCD87_HUMAN		1	694	-			Q8NE76	Silent	SNP	ENST00000333861.3	1	1	hg19	c.627C>A	CCDS8145.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	0	0	1		2	2	2	1		1	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_018219			23	23		223	219	0		1			1	0	56	0		9.999994e-01	0	0	0	0	0	0	23	223
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	99	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632													G|||	4	0.000798722	0.0023	0.0	5008	,	,		16974	0.001		0.0	False		,,,				2504	0.0					ENST00000533244.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				9						c.(295-297)Gtg>Atg		copper chaperone for superoxide dismutase		G	MET/VAL	3,4397	6.2+/-15.9	0,3,2197	25.0	26.0	25.0		295	4.3	0.9	11	dbSNP_134	25	0,8590		0,0,4295	yes	missense	CCS	NM_005125.1	21	0,3,6492	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	99/275	66366974	3,12987	2200	4295	6495	SO:0001583	missense	9973	11	121402	39				g.chr11:66366974G>A	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.295G>A	chr11.hg19:g.66366974G>A	ENSP00000436318:p.Val99Met	0					CCS_ENST00000310190.4_Missense_Mutation_p.V80M	p.V99M	NM_005125.1	NP_005116.1	1	2	3	1.991067	O14618	CCS_HUMAN		4	736	+			Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	1	1	hg19	c.295G>A	CCDS8146.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.077420	0.76528	6.82E-4	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.57752	0.38;0.38	5.23	4.31	0.51392	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.189495	0.46442	D	0.000286	T	0.78175	0.4242	H	0.97103	3.94	0.39517	D	0.968446	D	0.89917	1.0	D	0.67231	0.95	T	0.83326	-0.0015	10	0.87932	D	0	.	8.7598	0.34667	0.103:0.0:0.897:0.0	.	99	O14618	CCS_HUMAN	M	99;80	ENSP00000436318:V99M;ENSP00000307870:V80M	ENSP00000307870:V80M	V	+	1	0	0	CCS	66123550	66123550	1.000000	0.71417	0.896000	0.35187	0.900000	0.52787	4.047000	0.57383	1.419000	0.47118	0.655000	0.94253	GTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	0	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_005125			37	35		180	174	1		1	1		0	0	28	0		1	9.999843e-01	0	26	0	60	0	37	180
RBM4B	83759	broad.mit.edu	37	11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	rs149014922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000525754.1	-	2	1588	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000531969.1_Intron|RP11-658F2.8_ENST00000548810.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	307	Interaction with TNPO3. {ECO:0000250}.				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)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567													C|||	4	0.000798722	0.0008	0.0043	5008	,	,		18986	0.0		0.0	False		,,,				2504	0.0					ENST00000525754.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(919-921)cGt>cAt		RNA binding motif protein 4B							58.0	56.0	57.0					11																	66436255		2200	4295	6495	SO:0001583	missense	83759	5	121412	36				g.chr11:66436255C>T	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.920G>A	chr11.hg19:g.66436255C>T	ENSP00000433071:p.Arg307His	0					RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron	p.R307H			1	2	3	1.991067	Q9BQ04	RBM4B_HUMAN		2	1588	-			B3KT83	Missense_Mutation	SNP	ENST00000525754.1	1	1	hg19	c.920G>A	CCDS8149.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.82	3.704686	0.68615	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.30981	1.51;1.51	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.69823	2.125	0.80722	D	1	B	0.27068	0.167	B	0.17098	0.017	T	0.07712	-1.0758	10	0.41790	T	0.15	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	307	Q9BQ04	RBM4B_HUMAN	H	307	ENSP00000433071:R307H;ENSP00000310471:R307H	ENSP00000310471:R307H	R	-	2	0	0	RBM4B	66192831	66192831	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.789000	0.55454	2.937000	0.99478	0.650000	0.86243	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_031492			60	58		344	336	1		1	1		0	0	70	0		1	9.883871e-01	0	7	0	35	0	60	344
SPTBN2	6712	broad.mit.edu	37	11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2187					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)			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						GCCGGGCCCCGAGTCCGGGTC	0.672																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(6559-6561)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							25.0	32.0	29.0					11																	66455061		2197	4293	6490	SO:0001583	missense	6712	0	0					g.chr11:66455061G>A	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.6559C>T	chr11.hg19:g.66455061G>A	ENSP00000432568:p.Arg2187Trp	0					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W	p.R2187W			1	2	3	1.991067	O15020	SPTN2_HUMAN		35	6890	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.6559C>T	CCDS8150.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741130	0.69304	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72051	-0.61;-0.61;-0.62	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.880280	0.09922	N	0.738306	T	0.69424	0.3109	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.57468	0.821	T	0.62647	-0.6810	10	0.66056	D	0.02	.	13.0913	0.59167	0.0:0.1615:0.8385:0.0	.	2187	O15020	SPTN2_HUMAN	W	2187;2187;2187;731	ENSP00000432568:R2187W;ENSP00000311489:R2187W;ENSP00000433593:R2187W	ENSP00000311489:R2187W	R	-	1	2	2	SPTBN2	66211637	66211637	0.000000	0.05858	0.101000	0.21167	0.642000	0.38348	0.244000	0.18124	2.629000	0.89072	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006946			47	46		202	199	1		1	1		0	0	48	0		1	9.787765e-01	0	10	0	19	0	47	202
SPTBN2	6712	broad.mit.edu	37	11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2054					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)			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						GCCTCGTGCCGCTTGATGAGG	0.637																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(6160-6162)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							72.0	59.0	63.0					11																	66456195		2200	4295	6495	SO:0001583	missense	6712	1	121412	26				g.chr11:66456195G>A	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.6160C>T	chr11.hg19:g.66456195G>A	ENSP00000432568:p.Arg2054Trp	0					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W	p.R2054W			1	2	3	1.991067	O15020	SPTN2_HUMAN		31	6491	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.6160C>T	CCDS8150.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195842	0.78902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.69306	-0.39;-0.39;-0.39	4.77	3.78	0.43462	4.77	3.78	0.43462	.	0.062854	0.64402	D	0.000005	T	0.79522	0.4460	M	0.73430	2.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.81593	-0.0862	10	0.87932	D	0	.	11.9891	0.53166	0.0:0.0:0.7502:0.2498	.	2054	O15020	SPTN2_HUMAN	W	2054	ENSP00000432568:R2054W;ENSP00000311489:R2054W;ENSP00000433593:R2054W	ENSP00000311489:R2054W	R	-	1	2	2	SPTBN2	66212771	66212771	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.022000	0.49659	2.477000	0.83638	0.591000	0.81541	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006946			57	56		224	217	1		1	1		0	0	60	0		1	9.021854e-01	0	5	0	13	0	57	224
SPTBN2	6712	broad.mit.edu	37	11	66460174	66460174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1675					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)			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						CCGGCATACAGCTTGTCCACC	0.637																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(5023-5025)Ctg>Ttg		spectrin, beta, non-erythrocytic 2							41.0	33.0	36.0					11																	66460174		2200	4293	6493	SO:0001819	synonymous_variant	6712	0	0					g.chr11:66460174G>A	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.5023C>T	chr11.hg19:g.66460174G>A		0					SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L	p.L1675L			1	2	3	1.991067	O15020	SPTN2_HUMAN		26	5354	-			O14872|O14873	Silent	SNP	ENST00000533211.1	1	1	hg19	c.5023C>T	CCDS8150.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	44		44	37	1	2.060000	-20.000000	1	0.170000	NM_006946			51	43		239	210	1		1	1		0	0	44	0		1	6.525085e-01	0	6	0	6	0	51	239
SPTBN2	6712	broad.mit.edu	37	11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1452					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)			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						CCCTGGTCCTCCTGGGCCAGT	0.642											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1	1.000000	0.260000	6.300000e-01	3.500000e-01	0.470000	0.503435	0.470000	0.450000																										0				74						c.(4354-4356)Gag>Aag		spectrin, beta, non-erythrocytic 2							66.0	55.0	59.0					11																	66461759		2200	4295	6495	SO:0001583	missense	6712	0	0					g.chr11:66461759C>T	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.4354G>A	chr11.hg19:g.66461759C>T	ENSP00000432568:p.Glu1452Lys	0		OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K	p.E1452K			1	2	3	1.991067	O15020	SPTN2_HUMAN		22	4685	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.4354G>A	CCDS8150.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.659003	0.96734	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69778	-0.5053	10	0.23302	T	0.38	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	1452	O15020	SPTN2_HUMAN	K	1452	ENSP00000432568:E1452K;ENSP00000311489:E1452K;ENSP00000433593:E1452K	ENSP00000311489:E1452K	E	-	1	0	0	SPTBN2	66218335	66218335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.397000	0.81536	0.563000	0.77884	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.383339	1	0.170000	NM_006946			13	13		322	318	0		1	0		0	0	53	0		9.995217e-01	1.158265e-01	0	1	0	13	0	13	322
SPTBN2	6712	broad.mit.edu	37	11	66466946	66466946	+	Missense_Mutation	SNP	C	C	T	rs372553453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66466946C>T	ENST00000533211.1	-	18	4038	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1236					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)			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						TACCAGCTGGCGGCCAGCCTC	0.547																																						ENST00000533211.1	1.000000	0.180000	4.300000e-01	2.400000e-01	0.320000	0.360377	0.320000	0.310000																										0				74						c.(3706-3708)cGc>cAc		spectrin, beta, non-erythrocytic 2		C	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	90.0	86.0	87.0		3707	4.2	1.0	11		87	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	29	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	1236/2391	66466946	2,12988	2200	4295	6495	SO:0001583	missense	6712	3	121412	38				g.chr11:66466946C>T	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.3707G>A	chr11.hg19:g.66466946C>T	ENSP00000432568:p.Arg1236His	0					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H	p.R1236H			1	2	3	1.991067	O15020	SPTN2_HUMAN		18	4038	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.3707G>A	CCDS8150.1	0	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869278	0.91587	4.55E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35789	1.29;1.29;1.29	5.16	4.23	0.50019	5.16	4.23	0.50019	.	0.157403	0.43919	D	0.000501	T	0.57562	0.2062	M	0.75447	2.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.58696	-0.7591	10	0.51188	T	0.08	.	13.2305	0.59941	0.0:0.9195:0.0:0.0805	.	1236	O15020	SPTN2_HUMAN	H	1236	ENSP00000432568:R1236H;ENSP00000311489:R1236H;ENSP00000433593:R1236H	ENSP00000311489:R1236H	R	-	2	0	0	SPTBN2	66223522	66223522	0.023000	0.18921	1.000000	0.80357	0.916000	0.54674	1.257000	0.32932	2.670000	0.90874	0.591000	0.81541	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	0	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-3.059495	1	0.170000	NM_006946			14	14		508	501	0		1	0		0	0	117	0		9.997317e-01	3.294956e-02	0	1	0	9	0	14	508
SPTBN2	6712	broad.mit.edu	37	11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A	rs367736142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1148					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)			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						TTCCCAGGGCCTCCAGTCGCT	0.697																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3442-3444)gaG>gaT		spectrin, beta, non-erythrocytic 2							23.0	25.0	24.0					11																	66468126		2195	4292	6487	SO:0001583	missense	6712	0	0					g.chr11:66468126C>A	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.3444G>T	chr11.hg19:g.66468126C>A	ENSP00000432568:p.Glu1148Asp	0					SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D	p.E1148D			1	2	3	1.991067	O15020	SPTN2_HUMAN		17	3775	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.3444G>T	CCDS8150.1	1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827036	0.50739	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.56	0.915	0.19366	4.56	0.915	0.19366	.	0.060221	0.64402	D	0.000002	T	0.19446	0.0467	N	0.04724	-0.175	0.37733	D	0.925334	B	0.24186	0.099	B	0.21360	0.034	T	0.08994	-1.0695	10	0.11794	T	0.64	.	6.7507	0.23485	0.0:0.5533:0.0:0.4467	.	1148	O15020	SPTN2_HUMAN	D	1148	ENSP00000432568:E1148D;ENSP00000311489:E1148D;ENSP00000433593:E1148D	ENSP00000311489:E1148D	E	-	3	2	2	SPTBN2	66224702	66224702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.956000	0.29202	0.285000	0.22329	-0.339000	0.08088	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006946			41	41		196	191	1		1	1		0	0	35	0		1	2.857854e-01	0	3	0	3	0	41	196
SPTBN2	6712	broad.mit.edu	37	11	66472170	66472170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	859					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)			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						CCCCGGCCTCGCTGAGCATGG	0.706																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997981	0.990000	1.000000																										0				74						c.(2575-2577)agC>agT		spectrin, beta, non-erythrocytic 2							14.0	13.0	13.0					11																	66472170		2195	4292	6487	SO:0001819	synonymous_variant	6712	2	121048	29				g.chr11:66472170G>A	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.2577C>T	chr11.hg19:g.66472170G>A		0					SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S	p.S859S			1	2	3	1.991067	O15020	SPTN2_HUMAN		15	2908	-			O14872|O14873	Silent	SNP	ENST00000533211.1	1	1	hg19	c.2577C>T	CCDS8150.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_006946			16	16		95	93	1		1	1		0	0	20	0		9.999494e-01	2.269755e-01	0	2	0	4	0	16	95
SPTBN2	6712	broad.mit.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2. {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)			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						CCCACCTTCGGGATCCAGCAG	0.512																																						ENST00000533211.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(766-768)cCc>cTc		spectrin, beta, non-erythrocytic 2							147.0	144.0	145.0					11																	66481107		2200	4295	6495	SO:0001583	missense	6712	0	0					g.chr11:66481107G>A	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.767C>T	chr11.hg19:g.66481107G>A	ENSP00000432568:p.Pro256Leu	0					RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L	p.P256L			1	2	3	1.991067	O15020	SPTN2_HUMAN		8	1098	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.767C>T	CCDS8150.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040059	0.75732	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64618	-0.11;-0.11;-0.11	4.86	4.86	0.63082	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86122	0.1569	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	L	256	ENSP00000432568:P256L;ENSP00000311489:P256L;ENSP00000433593:P256L	ENSP00000311489:P256L	P	-	2	0	0	SPTBN2	66237683	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-3.658572	1	0.170000	NM_006946			157	153		624	612	1		1	1		0	0	149	0		1	8.603383e-01	0	6	0	10	0	157	624
RCE1	9986	broad.mit.edu	37	11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000524506.1_Missense_Mutation_p.A46T|RCE1_ENST00000525356.1_5'Flank	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	46					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)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746																																						ENST00000309657.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999605	0.990000	1.000000																										0				10						c.(136-138)Gcc>Acc		Ras converting CAAX endopeptidase 1							5.0	6.0	6.0					11																	66611062		1854	3734	5588	SO:0001583	missense	9986	0	0					g.chr11:66611062G>A	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.136G>A	chr11.hg19:g.66611062G>A	ENSP00000309163:p.Ala46Thr	0					RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	1	2	3	1.991067	Q9Y256	FACE2_HUMAN		1	180	+			Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	0	1	hg19	c.136G>A	CCDS8151.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.693088	0.96793	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.162448	0.38326	N	0.001732	T	0.66616	0.2807	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68051	-0.5511	9	0.49607	T	0.09	-10.3498	15.0864	0.72158	0.0:0.0:1.0:0.0	.	46	Q9Y256	FACE2_HUMAN	T	46	.	ENSP00000309163:A46T	A	+	1	0	0	RCE1	66367638	66367638	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.931000	0.87625	2.215000	0.71742	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_005133			14	14		58	56	0		1	1		0	0	8	0		9.998249e-01	9.903404e-01	0	12	0	24	0	14	58
PC	5091	broad.mit.edu	37	11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393958.2	-	14	1831	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.T580A|PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	580	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|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)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617																																						ENST00000393958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1738-1740)Act>Gct		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						70.0	68.0	69.0					11																	66619997		2200	4295	6495	SO:0001583	missense	5091	0	0					g.chr11:66619997T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1738A>G	chr11.hg19:g.66619997T>C	ENSP00000377530:p.Thr580Ala	0					PC_ENST00000393960.1_Missense_Mutation_p.T580A|PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000528224.1_5'Flank	p.T580A	NM_000920.3	NP_000911.2	1	2	3	1.991067	P11498	PYC_HUMAN		14	1831	-		Melanoma(852;0.0525)	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	1	1	hg19	c.1738A>G	CCDS8152.1	1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826191	0.71143	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98280	-4.84;-4.84;-4.84	5.53	5.53	0.82687	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.103647	0.64402	D	0.000003	D	0.99327	0.9764	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98662	1.0684	10	0.87932	D	0	-19.6207	13.6436	0.62267	0.0:0.0:0.0:1.0	.	580	P11498	PYC_HUMAN	A	580	ENSP00000377527:T580A;ENSP00000377530:T580A;ENSP00000377532:T580A	ENSP00000377527:T580A	T	-	1	0	0	PC	66376573	66376573	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.664000	0.61540	2.107000	0.64212	0.533000	0.62120	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_001040716			99	99		379	376	1		1	1		0	0	96	0		1	9.935479e-01	0	2	0	30	0	99	379
SYT12	91683	broad.mit.edu	37	11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A	rs373132081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000525457.1_Missense_Mutation_p.R369H|SYT12_ENST00000527043.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.R369H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597																																					Ovarian(65;2862 3307)	ENST00000393946.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R369H(1)	endometrium(1)	20						c.(1105-1107)cGc>cAc		synaptotagmin XII		G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	74.0	63.0	67.0		1106,1106	4.6	1.0	11		67	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	SYT12	NM_001177880.1,NM_177963.3	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	369/422,369/422	66816068	1,12989	2200	4295	6495	SO:0001583	missense	91683	1	121410	29				g.chr11:66816068G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1106G>A	chr11.hg19:g.66816068G>A	ENSP00000377520:p.Arg369His	0					SYT12_ENST00000527043.1_Missense_Mutation_p.R369H|SYT12_ENST00000525457.1_Missense_Mutation_p.R369H	p.R369H			1	2	3	1.991067	Q8IV01	SYT12_HUMAN		11	2268	+				Missense_Mutation	SNP	ENST00000393946.2	1	1	hg19	c.1106G>A	CCDS8154.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681759	0.88542	0.0	1.16E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.68624	-0.34;-0.34;-0.34	4.59	4.59	0.56863	4.59	4.59	0.56863	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	0.71937	0.3399	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.14656	T	0.56	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	369	Q8IV01	SYT12_HUMAN	H	369	ENSP00000377520:R369H;ENSP00000431400:R369H;ENSP00000435316:R369H	ENSP00000377520:R369H	R	+	2	0	0	SYT12	66572644	66572644	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.783000	0.99037	2.270000	0.75569	0.462000	0.41574	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_177963			64	64		292	285	1		1	1		0	0	52	0		1	9.096035e-01	0	2	0	19	0	64	292
RHOD	29984	broad.mit.edu	37	11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000308831.2	+	3	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	80					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592																																						ENST00000308831.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(238-240)cGc>cAc		ras homolog family member D							140.0	127.0	132.0					11																	66834227		2200	4295	6495	SO:0001583	missense	29984	2	121412	39				g.chr11:66834227G>A	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.239G>A	chr11.hg19:g.66834227G>A	ENSP00000308576:p.Arg80His	0					RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	p.R80H	NM_014578.3	NP_055393	1	2	3	1.991067	O00212	RHOD_HUMAN		3	324	+				Missense_Mutation	SNP	ENST00000308831.2	1	1	hg19	c.239G>A	CCDS8155.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755124	0.49362	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.77750	-1.12;-1.12	4.9	2.98	0.34508	4.9	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	T	0.71978	0.3404	M	0.79614	2.46	0.80722	D	1	B	0.33748	0.423	B	0.24006	0.05	T	0.74182	-0.3748	10	0.87932	D	0	-19.3198	7.7208	0.28731	0.1975:0.0:0.8025:0.0	.	80	O00212	RHOD_HUMAN	H	80	ENSP00000308576:R80H;ENSP00000431167:R80H	ENSP00000308576:R80H	R	+	2	0	0	RHOD	66590803	66590803	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	6.808000	0.75206	1.301000	0.44836	-0.136000	0.14681	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_014578			120	118		553	542	1		1	1		0	0	141	0		1	9.999747e-01	0	6	0	65	0	120	553
KDM2A	22992	broad.mit.edu	37	11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	129					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517																																						ENST00000529006.2	1.000000	0.510000	1	6.800000e-01	0.880000	0.853800	0.880000	1.000000																										0				36						c.(385-387)tAc>tGc		lysine (K)-specific demethylase 2A							64.0	69.0	68.0					11																	66975059		2034	4198	6232	SO:0001583	missense	22992	0	0					g.chr11:66975059A>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.386A>G	chr11.hg19:g.66975059A>G	ENSP00000432786:p.Tyr129Cys	0					KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	p.Y129C	NM_012308.2	NP_036440.1	1	2	3	1.991067	Q9Y2K7	KDM2A_HUMAN		6	832	+			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	0	1	hg19	c.386A>G	CCDS44657.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511494	0.85389	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73681	-0.77;-0.77	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.87932	D	0	-12.3265	14.5521	0.68073	1.0:0.0:0.0:0.0	.	129	Q9Y2K7	KDM2A_HUMAN	C	129	ENSP00000381640:Y129C;ENSP00000432786:Y129C	ENSP00000381640:Y129C	Y	+	2	0	0	KDM2A	66731635	66731635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.026000	0.59711	0.482000	0.46254	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.717050	1	0.170000	NM_012308			15	15		190	187	1		1	1		0	0	25	0		9.998778e-01	9.931903e-01	0	11	0	96	0	15	190
KDM2A	22992	broad.mit.edu	37	11	67012741	67012741	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	549					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547																																						ENST00000529006.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(1645-1647)Tta>Cta		lysine (K)-specific demethylase 2A							107.0	115.0	112.0					11																	67012741		2045	4176	6221	SO:0001819	synonymous_variant	22992	0	0					g.chr11:67012741T>C	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1645T>C	chr11.hg19:g.67012741T>C		0					KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L	p.L549L	NM_012308.2	NP_036440.1	1	2	3	1.991067	Q9Y2K7	KDM2A_HUMAN		14	2091	+			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	1	1	hg19	c.1645T>C	CCDS44657.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_012308			98	96		673	658	0		1	1		0	0	164	0		1	9.999987e-01	0	13	0	117	0	98	673
KDM2A	22992	broad.mit.edu	37	11	67018039	67018039	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	846					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652																																						ENST00000529006.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(2536-2538)caG>caA		lysine (K)-specific demethylase 2A							19.0	21.0	20.0					11																	67018039		1965	4145	6110	SO:0001819	synonymous_variant	22992	0	0					g.chr11:67018039G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2538G>A	chr11.hg19:g.67018039G>A		0					KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron	p.Q846Q	NM_012308.2	NP_036440.1	1	2	3	1.991067	Q9Y2K7	KDM2A_HUMAN		17	2984	+			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	1	1	hg19	c.2538G>A	CCDS44657.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	0		2	2	2	0		0	0	26		26	23	1	2.060000	-20.000000	1	0.170000	NM_012308			35	35		156	149	1		1	1		0	0	26	0		1	9.650137e-01	0	6	0	21	0	35	156
ADRBK1	156	broad.mit.edu	37	11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667																																						ENST00000308595.5	1.000000	0.270000	6.600000e-01	3.700000e-01	0.490000	0.527747	0.490000	0.470000																										0				22						c.(739-741)aGc>aAc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						49.0	46.0	47.0					11																	67049022		2200	4295	6495	SO:0001583	missense	156	0	0					g.chr11:67049022G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.740G>A	chr11.hg19:g.67049022G>A	ENSP00000312262:p.Ser247Asn	0					ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	p.S247N	NM_001619.3	NP_001610.2	1	2	3	1.991067	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	9	1030	+			B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	1	1	hg19	c.740G>A	CCDS8156.1	0	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682851	0.14907	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.64618	-0.11;-0.11	5.0	5.0	0.66597	5.0	5.0	0.66597	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	0.47229	0.1434	N	0.20530	0.585	0.58432	D	0.999996	B;B	0.22604	0.072;0.023	B;B	0.28139	0.086;0.032	T	0.43861	-0.9365	10	0.02654	T	1	-15.598	18.674	0.91523	0.0:0.0:1.0:0.0	.	247;247	P25098;E9PRV7	ARBK1_HUMAN;.	N	247	ENSP00000312262:S247N;ENSP00000434126:S247N	ENSP00000312262:S247N	S	+	2	0	0	ADRBK1	66805598	66805598	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.008000	0.93601	2.493000	0.84123	0.591000	0.81541	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-14.420720	1	0.170000	NM_001619			13	12		305	299	0		1	1		0	0	60	0		9.994912e-01	9.994579e-01	0	6	0	302	0	13	305
ADRBK1	156	broad.mit.edu	37	11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662																																						ENST00000308595.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1066-1068)tAc>tGc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						75.0	76.0	75.0					11																	67049920		2200	4295	6495	SO:0001583	missense	156	0	0					g.chr11:67049920A>G	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1067A>G	chr11.hg19:g.67049920A>G	ENSP00000312262:p.Tyr356Cys	0					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C	p.Y356C	NM_001619.3	NP_001610.2	1	2	3	1.991067	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	13	1357	+			B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	1	1	hg19	c.1067A>G	CCDS8156.1	1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398443	0.62177	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.59638	0.25;0.25	5.57	4.4	0.53042	5.57	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);	0.000000	0.56097	D	0.000040	T	0.80778	0.4688	M	0.93594	3.435	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85634	0.1272	10	0.87932	D	0	-2.2284	12.7695	0.57412	0.8634:0.1366:0.0:0.0	.	356;356	P25098;E9PRV7	ARBK1_HUMAN;.	C	356	ENSP00000312262:Y356C;ENSP00000434126:Y356C	ENSP00000312262:Y356C	Y	+	2	0	0	ADRBK1	66806496	66806496	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.939000	0.70179	2.117000	0.64856	0.459000	0.35465	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	0		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_001619			75	73		394	389	1		1	1		0	0	100	0		1	1	0	52	0	193	0	75	394
ADRBK1	156	broad.mit.edu	37	11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667																																						ENST00000308595.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1072-1074)Gct>Act		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						78.0	78.0	78.0					11																	67049925		2200	4295	6495	SO:0001583	missense	156	0	0					g.chr11:67049925G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1072G>A	chr11.hg19:g.67049925G>A	ENSP00000312262:p.Ala358Thr	0					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T	p.A358T	NM_001619.3	NP_001610.2	1	2	3	1.991067	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	13	1362	+			B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	1	1	hg19	c.1072G>A	CCDS8156.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537423	0.85917	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.53423	0.62;0.62	5.7	4.76	0.60689	5.7	4.76	0.60689	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	0.000011	T	0.80391	0.4614	H	0.97918	4.105	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.77004	0.96;0.989	D	0.87699	0.2559	10	0.87932	D	0	-2.0703	16.7385	0.85453	0.0:0.1288:0.8712:0.0	.	358;358	P25098;E9PRV7	ARBK1_HUMAN;.	T	358	ENSP00000312262:A358T;ENSP00000434126:A358T	ENSP00000312262:A358T	A	+	1	0	0	ADRBK1	66806501	66806501	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.562000	0.82300	2.688000	0.91661	0.655000	0.94253	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	0		2	2	2	0		0	0	103		103	101	1	2.060000	-20.000000	1	0.170000	NM_001619			78	76		404	400	1		1	1		0	0	103	0		1	1	0	50	0	215	0	78	404
ADRBK1	156	broad.mit.edu	37	11	67050268	67050268	+	Silent	SNP	C	C	T	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607																																						ENST00000308595.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				22						c.(1204-1206)atC>atT		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)	C		1,4399	2.1+/-5.4	0,1,2199	52.0	46.0	48.0		1206	-2.3	1.0	11	dbSNP_134	48	0,8590		0,0,4295	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		402/690	67050268	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	156	11	121312	38				g.chr11:67050268C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1206C>T	chr11.hg19:g.67050268C>T		0					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.I402I	NM_001619.3	NP_001610.2	1	2	3	1.991067	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	14	1496	+			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	1	1	hg19	c.1206C>T	CCDS8156.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_001619			26	25		113	111	1		1	1		0	0	24	0		1	1	0	81	0	245	0	26	113
ANKRD13D	338692	broad.mit.edu	37	11	67066586	67066586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67066586C>T	ENST00000447274.2	+	7	1703	c.528C>T	c.(526-528)taC>taT	p.Y176Y	ANKRD13D_ENST00000515828.1_5'Flank|ANKRD13D_ENST00000511455.2_Silent_p.Y263Y|ANKRD13D_ENST00000514166.1_Silent_p.Y176Y|ANKRD13D_ENST00000308440.6_Silent_p.Y176Y			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	176						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTAGCGGCTACGAGGCCAAGG	0.592																																						ENST00000447274.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(526-528)taC>taT		ankyrin repeat domain 13 family, member D							107.0	104.0	105.0					11																	67066586		2200	4295	6495	SO:0001819	synonymous_variant	338692	0	0					g.chr11:67066586C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.528C>T	chr11.hg19:g.67066586C>T		0					ANKRD13D_ENST00000514166.1_Silent_p.Y176Y|ANKRD13D_ENST00000308440.6_Silent_p.Y176Y|ANKRD13D_ENST00000511455.2_Silent_p.Y263Y|ANKRD13D_ENST00000515828.1_5'Flank	p.Y176Y			1	2	3	1.991067	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	7	1703	+			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	ENST00000447274.2	1	0	hg19	c.528C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-1.929451	0	0.170000	NM_207354			88	87		415	401	1		1	0		0	0	103	0		1	9.999906e-01	0	1	0	79	0	88	415
RAD9A	5883	broad.mit.edu	37	11	67163803	67163803	+	Silent	SNP	C	C	T	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	RAD9A_ENST00000535644.1_3'UTR|RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	268	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642								Other conserved DNA damage response genes																														ENST00000307980.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(802-804)acC>acT	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)				1,4399	2.1+/-5.4	0,1,2199	123.0	117.0	119.0		804	-9.3	0.0	11	dbSNP_134	119	0,8590		0,0,4295	no	coding-synonymous	RAD9A	NM_004584.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		268/392	67163803	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	5883	3	121412	38				g.chr11:67163803C>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.804C>T	chr11.hg19:g.67163803C>T		0					RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR	p.T268T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	1	2	3	1.991067	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)	9	897	+			B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	1	1	hg19	c.804C>T	CCDS8159.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	1	0	1		2	2	2	0		0	0	190		190	190	1	2.060000	-2.832203	1	0.170000	NM_004584			144	144		667	650	1		1	1		0	0	190	0		1	9.992946e-01	0	16	0	35	0	144	667
PPP1CA	5499	broad.mit.edu	37	11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	299					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|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)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTCTTGTCGGCGGGCTTGAGG	0.587																																						ENST00000376745.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(895-897)Gcc>Acc		protein phosphatase 1, catalytic subunit, alpha isozyme							90.0	86.0	87.0					11																	67166104		2200	4295	6495	SO:0001583	missense	5499	1	121396	28				g.chr11:67166104C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.895G>A	chr11.hg19:g.67166104C>T	ENSP00000365936:p.Ala299Thr	0					PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	p.A299T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	1	2	3	1.991067	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)	7	1043	-			A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	1	1	hg19	c.895G>A	CCDS8160.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875607	0.72180	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.05513	3.43;3.43;3.43	4.76	4.76	0.60689	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000015	T	0.08403	0.0209	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.22003	0.063;0.063;0.004;0.022;0.01;0.003	B;B;B;B;B;B	0.10450	0.005;0.005;0.001;0.003;0.001;0.002	T	0.11251	-1.0595	10	0.66056	D	0.02	-15.3637	16.6987	0.85343	0.0:1.0:0.0:0.0	.	396;396;299;255;310;308	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	310;396;299;255	ENSP00000326031:A310T;ENSP00000365936:A299T;ENSP00000350974:A255T	ENSP00000326031:A310T	A	-	1	0	0	PPP1CA	66922680	66922680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.224000	0.65288	2.474000	0.83562	0.462000	0.41574	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_002708			47	46		214	211	1		1	1		0	0	44	0		1	1	0	264	0	691	0	47	214
CARNS1	57571	broad.mit.edu	37	11	67186961	67186961	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67186961G>T	ENST00000307823.3	+	5	939	c.487G>T	c.(487-489)Gct>Tct	p.A163S	CARNS1_ENST00000445895.2_Missense_Mutation_p.A286S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	163					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCAGGTAGCTGTGAAGCT	0.672																																						ENST00000307823.3	1.000000	0.170000	7.900000e-01	3.000000e-01	0.500000	0.540385	0.500000	1.000000																										0				11						c.(487-489)Gct>Tct		carnosine synthase 1							14.0	17.0	16.0					11																	67186961		2021	4179	6200	SO:0001583	missense	57571	0	0					g.chr11:67186961G>T		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.487G>T	chr11.hg19:g.67186961G>T	ENSP00000308268:p.Ala163Ser	0					CARNS1_ENST00000445895.2_Missense_Mutation_p.A286S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S	p.A163S	NM_020811.1	NP_065862.1	1	2	3	1.991067	A5YM72	CRNS1_HUMAN		5	939	+			A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	0	1	hg19	c.487G>T	CCDS44658.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231727|4.231727	0.79688|0.79688	.|.	.|.	ENSG00000172508|ENSG00000172531	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895|ENST00000451458;ENST00000546202;ENST00000542876	T;T;T;T|T;T	0.38240|0.51817	1.15;1.15;1.15;1.16|0.87;0.69	5.29|5.29	4.37|4.37	0.52481|0.52481	5.29|5.29	4.37|4.37	0.52481|0.52481	.|.	.|.	.|.	.|.	.|.	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.24115|0.24115	0.695|0.695	0.26746|0.26746	N|N	0.970297|0.970297	D;P;D|B	0.67145|0.19583	0.996;0.948;0.996|0.037	P;P;P|B	0.60609|0.12156	0.877;0.588;0.877|0.007	T|T	0.20075|0.20075	-1.0286|-1.0286	9|9	0.59425|0.40728	D|T	0.04|0.16	.|.	11.0196|11.0196	0.47709|0.47709	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	286;163;302|88	F5H427;A5YM72;A5YM72-3|E9PDP1	.;CRNS1_HUMAN;.|.	S|R	286;163;286;163;286|88	ENSP00000431670:A286S;ENSP00000308268:A163S;ENSP00000401519:A163S;ENSP00000389009:A286S|ENSP00000439568:S88R;ENSP00000438409:S88R	ENSP00000308268:A163S|ENSP00000405603:S88R	A|S	+|-	1|3	0|2	0|2	CARNS1|PPP1CA	66943537|66943537	66943537|66943537	0.765000|0.765000	0.28485|0.28485	0.894000|0.894000	0.35097|0.35097	0.962000|0.962000	0.63368|0.63368	2.944000|2.944000	0.49034|0.49034	1.235000|1.235000	0.43724|0.43724	0.462000|0.462000	0.41574|0.41574	GCT|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-7.507545	1	0.170000	NM_020811			4	4		101	92	0		1	0		0	0	12	0		8.693851e-01	0	0	0	0	1	0	4	101
RPS6KB2	6199	broad.mit.edu	37	11	67196455	67196455	+	Silent	SNP	C	C	T	rs369666279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Silent_p.D27D|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	27					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)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627																																						ENST00000312629.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				25						c.(79-81)gaC>gaT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4085		0,1,2042	75.0	78.0	77.0		81	1.9	1.0	11		77	0,8332		0,0,4166	no	coding-synonymous	RPS6KB2	NM_003952.2		0,1,6208	TT,TC,CC		0.0,0.0245,0.0081		27/483	67196455	1,12417	2043	4166	6209	SO:0001819	synonymous_variant	6199	1	120974	34				g.chr11:67196455C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.81C>T	chr11.hg19:g.67196455C>T		0					RPS6KB2_ENST00000539188.1_Silent_p.D27D|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR	p.D27D	NM_003952.2	NP_003943.2	1	2	3	1.991067	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	2	126	+			B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	1	1	hg19	c.81C>T	CCDS41677.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_003952			53	51		294	288	1		1	1		0	0	64	0		1	9.999145e-01	0	28	0	51	0	53	294
RPS6KB2	6199	broad.mit.edu	37	11	67200475	67200475	+	Silent	SNP	C	C	T	rs377739693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627																																						ENST00000312629.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999854	0.990000	1.000000																										0				25						c.(667-669)ggC>ggT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4107		0,1,2053	40.0	46.0	44.0		669	-5.4	0.1	11		44	1,8403		0,1,4201	no	coding-synonymous	RPS6KB2	NM_003952.2		0,2,6254	TT,TC,CC		0.0119,0.0243,0.016		223/483	67200475	2,12510	2054	4202	6256	SO:0001819	synonymous_variant	6199	22	120996	44				g.chr11:67200475C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.669C>T	chr11.hg19:g.67200475C>T		0					RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	p.G223G	NM_003952.2	NP_003943.2	1	2	3	1.991067	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	8	714	+			B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	1	1	hg19	c.669C>T	CCDS41677.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.322715	1	0.170000	NM_003952			33	32		204	203	1		1	1		0	0	42	0		1	1	0	70	0	163	0	33	204
CORO1B	57175	broad.mit.edu	37	11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000341356.5	-	11	1472	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	454					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677																																						ENST00000341356.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1360-1362)gaG>gaT		coronin, actin binding protein, 1B							30.0	32.0	31.0					11																	67205955		2200	4295	6495	SO:0001583	missense	57175	0	0					g.chr11:67205955C>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1362G>T	chr11.hg19:g.67205955C>A	ENSP00000340211:p.Glu454Asp	0					CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D|PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR	p.E454D	NM_020441.2	NP_065174.1	1	2	3	1.991067	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	11	1472	-			B2RD45	Missense_Mutation	SNP	ENST00000341356.5	1	1	hg19	c.1362G>T	CCDS8164.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272346	0.23221	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61980	0.06;0.06	4.97	-3.5	0.04710	4.97	-3.5	0.04710	.	0.407209	0.18103	N	0.151625	T	0.32734	0.0839	N	0.17082	0.46	0.27748	N	0.944249	B	0.02656	0.0	B	0.10450	0.005	T	0.30534	-0.9975	10	0.08179	T	0.78	-16.5489	5.61	0.17400	0.0:0.213:0.279:0.508	.	454	Q9BR76	COR1B_HUMAN	D	454	ENSP00000377471:E454D;ENSP00000340211:E454D	ENSP00000340211:E454D	E	-	3	2	2	CORO1B	66962531	66962531	0.022000	0.18835	0.979000	0.43373	0.767000	0.43475	-0.983000	0.03759	-0.505000	0.06568	-0.232000	0.12228	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.340444	1	0.170000	NM_020441			54	52		277	270	1		1	1		0	0	52	0		1	1	0	62	0	187	0	54	277
CORO1B	57175	broad.mit.edu	37	11	67206391	67206391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000341356.5	-	10	1205	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.P365P|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	365					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687																																						ENST00000341356.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				13						c.(1093-1095)ccC>ccT		coronin, actin binding protein, 1B							10.0	13.0	12.0					11																	67206391		2186	4278	6464	SO:0001819	synonymous_variant	57175	5	120684	34				g.chr11:67206391G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1095C>T	chr11.hg19:g.67206391G>A		0					CORO1B_ENST00000393893.1_Silent_p.P365P|PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR	p.P365P	NM_020441.2	NP_065174.1	1	2	3	1.991067	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	10	1205	-			B2RD45	Silent	SNP	ENST00000341356.5	1	1	hg19	c.1095C>T	CCDS8164.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000	NM_020441			20	20		92	91	1		1	1		0	0	19	0		9.999974e-01	1	0	144	0	384	0	20	92
GPR152	390212	broad.mit.edu	37	11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T	rs538131705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16470	0.001		0.0	False		,,,				2504	0.0				Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2	1.000000	0.680000	1	8.300000e-01	0.990000	0.941100	0.990000	1.000000																										0				16						c.(706-708)Gcc>Acc		G protein-coupled receptor 152							31.0	33.0	33.0					11																	67219490		2200	4295	6495	SO:0001583	missense	390212	4	121262	36				g.chr11:67219490C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.706G>A	chr11.hg19:g.67219490C>T	ENSP00000310255:p.Ala236Thr	0					CABP4_ENST00000438189.2_5'Flank	p.A236T	NM_206997.1	NP_996880.1	1	2	3	1.991067	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)	1	710	-			Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	1	1	hg19	c.706G>A	CCDS8165.1	1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215546	0.22373	.	.	ENSG00000175514	ENST00000312457	T	0.73469	-0.75	4.58	3.59	0.41128	4.58	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.190474	0.25648	N	0.029228	T	0.58509	0.2127	N	0.14661	0.345	0.30379	N	0.782109	D	0.55172	0.97	P	0.46208	0.507	T	0.58595	-0.7609	10	0.32370	T	0.25	.	9.2278	0.37418	0.3228:0.6772:0.0:0.0	.	236	Q8TDT2	GP152_HUMAN	T	236	ENSP00000310255:A236T	ENSP00000310255:A236T	A	-	1	0	0	GPR152	66976066	66976066	0.000000	0.05858	0.870000	0.34147	0.133000	0.20885	0.582000	0.23834	2.350000	0.79820	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-3.318794	1	0.170000				25	25		266	259	0		1			0	0	47	0		9.999998e-01	0	0	0	0	0	0	25	266
GPR152	390212	broad.mit.edu	37	11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2	1.000000	0.310000	1	4.900000e-01	0.750000	0.744160	0.750000	1.000000																										0				16						c.(220-222)Gcc>Acc		G protein-coupled receptor 152							17.0	18.0	18.0					11																	67219976		2200	4291	6491	SO:0001583	missense	390212	0	0					g.chr11:67219976C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.220G>A	chr11.hg19:g.67219976C>T	ENSP00000310255:p.Ala74Thr	0					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000325656.5_5'Flank	p.A74T	NM_206997.1	NP_996880.1	1	2	3	1.991067	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)	1	224	-			Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	0	1	hg19	c.220G>A	CCDS8165.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.358546	0.95854	.	.	ENSG00000175514	ENST00000312457	T	0.56103	0.48	4.91	4.91	0.64330	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001330	T	0.67674	0.2918	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	15.6211	0.76808	0.0:1.0:0.0:0.0	.	74	Q8TDT2	GP152_HUMAN	T	74	ENSP00000310255:A74T	ENSP00000310255:A74T	A	-	1	0	0	GPR152	66976552	66976552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.199000	0.58426	2.542000	0.85734	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-10.334960	1	0.170000				6	6		94	92	0		1	0		0	0	18	0		9.643131e-01	5.330287e-03	0	1	0	1	0	6	94
AIP	9049	broad.mit.edu	37	11	67257556	67257556	+	Silent	SNP	C	C	T	rs267606558|rs2276020	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67257556C>T	ENST00000279146.3	+	4	634	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	172					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CCATGACAGACGAAGAGAAGG	0.622									Familial Isolated Pituitary Adenoma				C|||	282	0.0563099	0.0469	0.0303	5008	,	,		21809	0.1409		0.0219	False		,,,				2504	0.0358					ENST00000279146.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				7						c.(514-516)gaC>gaT		aryl hydrocarbon receptor interacting protein		C		208,4188	127.0+/-164.0	7,194,1997	102.0	70.0	81.0		516	-4.4	0.9	11	dbSNP_100	81	122,8462	62.1+/-124.0	0,122,4170	no	coding-synonymous	AIP	NM_003977.2		7,316,6167	TT,TC,CC		1.4212,4.7316,2.5424		172/331	67257556	330,12650	2198	4292	6490	SO:0001819	synonymous_variant	9049	4038	121126	63	Familial Isolated Pituitary Adenoma	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	g.chr11:67257556C>T	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.516C>T	chr11.hg19:g.67257556C>T		0						p.D172D	NM_003977.2	NP_003968.2	1	2	3	1.991067	O00170	AIP_HUMAN		4	634	+			A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Silent	SNP	ENST00000279146.3	1	0	hg19	c.516C>T	CCDS8168.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-1.780182	0	0.170000				19	19		84	83	1		1	1		0	0	19	0		9.999949e-01	1	0	81	0	330	0	19	84
PITPNM1	9600	broad.mit.edu	37	11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000534749.1	-	22	3586	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1133				A -> T (in Ref. 1; CAA67224). {ECO:0000305}.	brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642																																					GBM(28;144 709 4607 5525)	ENST00000534749.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(3397-3399)gCg>gTg		phosphatidylinositol transfer protein, membrane-associated 1							94.0	103.0	100.0					11																	67260478		2200	4295	6495	SO:0001583	missense	9600	0	0					g.chr11:67260478G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3398C>T	chr11.hg19:g.67260478G>A	ENSP00000437286:p.Ala1133Val	0					PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000526450.1_5'Flank	p.A1133V			1	2	3	1.991067	O00562	PITM1_HUMAN		22	3586	-			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	1	1	hg19	c.3398C>T	CCDS31620.1	1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567459	0.28003	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	2.63	0.31362	4.71	2.63	0.31362	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.443249	0.19271	N	0.118403	T	0.67477	0.2897	L	0.50333	1.59	0.18873	N	0.999988	P;P	0.48503	0.911;0.91	B;B	0.35413	0.169;0.202	T	0.63323	-0.6663	10	0.66056	D	0.02	-16.6914	11.7009	0.51571	0.0:0.4955:0.5045:0.0	.	1132;1133	O00562-2;O00562	.;PITM1_HUMAN	V	1133;1132;1133	ENSP00000437286:A1133V;ENSP00000398787:A1132V;ENSP00000348772:A1133V	ENSP00000348772:A1133V	A	-	2	0	0	PITPNM1	67017054	67017054	0.279000	0.24239	0.027000	0.17364	0.105000	0.19272	0.620000	0.24403	1.143000	0.42306	-0.218000	0.12543	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	1	0	1		2	2	2	0		0	0	195		195	192	1	2.060000	-20.000000	1	0.170000	NM_004910			146	145		887	875	1		1	1		0	0	195	0		1	1	0	66	0	150	0	146	887
PITPNM1	9600	broad.mit.edu	37	11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000534749.1	-	4	621	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	145					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622																																					GBM(28;144 709 4607 5525)	ENST00000534749.1	1.000000	0.370000	9.400000e-01	5.100000e-01	0.700000	0.714257	0.700000	1.000000																										0				18						c.(433-435)Cgg>Tgg		phosphatidylinositol transfer protein, membrane-associated 1							41.0	43.0	42.0					11																	67269540		2200	4294	6494	SO:0001583	missense	9600	1	121348	26				g.chr11:67269540G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.433C>T	chr11.hg19:g.67269540G>A	ENSP00000437286:p.Arg145Trp	0					PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W	p.R145W			1	2	3	1.991067	O00562	PITM1_HUMAN		4	621	-			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	1	1	hg19	c.433C>T	CCDS31620.1	0	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818472	0.71028	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.21	3.28	0.37604	4.21	3.28	0.37604	START-like domain (1);	0.296317	0.23682	N	0.045614	T	0.58352	0.2116	L	0.47190	1.495	0.38624	D	0.951207	D;D	0.89917	0.999;1.0	D;D	0.73708	0.949;0.981	T	0.63152	-0.6701	10	0.87932	D	0	-30.3704	10.5497	0.45081	0.0:0.0:0.6498:0.3501	.	145;145	O00562-2;O00562	.;PITM1_HUMAN	W	145	ENSP00000437286:R145W;ENSP00000398787:R145W;ENSP00000348772:R145W;ENSP00000434046:R145W;ENSP00000432977:R145W;ENSP00000434904:R145W	ENSP00000348772:R145W	R	-	1	2	2	PITPNM1	67026116	67026116	0.722000	0.28017	1.000000	0.80357	0.992000	0.81027	1.200000	0.32247	1.097000	0.41459	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.325052	1	0.170000	NM_004910			11	11		181	176	0		1	1		0	0	45	0		9.982418e-01	9.996786e-01	0	15	0	233	0	11	181
GSTP1	2950	broad.mit.edu	37	11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	203	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTGAACCTCCCCATCAATGGC	0.582																																						ENST00000398606.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(607-609)cCc>cTc		glutathione S-transferase pi 1	Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)						32.0	33.0	33.0					11																	67354023		1964	4136	6100	SO:0001583	missense	2950	0	0					g.chr11:67354023C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.608C>T	chr11.hg19:g.67354023C>T	ENSP00000381607:p.Pro203Leu	0					GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	p.P203L	NM_000852.3	NP_000843.1	1	2	3	1.991067	P09211	GSTP1_HUMAN		7	857	+			O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	1	1	hg19	c.608C>T	CCDS41679.1	1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646131	0.47258	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09073	3.02;3.02	5.3	4.39	0.52855	5.3	4.39	0.52855	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.148823	0.44902	D	0.000416	T	0.24928	0.0605	M	0.75264	2.295	0.48135	D	0.999596	D	0.71674	0.998	D	0.66847	0.947	T	0.36841	-0.9731	9	0.87932	D	0	-47.9802	9.8953	0.41316	0.0:0.9049:0.0:0.0951	.	203	P09211	GSTP1_HUMAN	L	203;167	ENSP00000381607:P203L;ENSP00000381604:P167L	ENSP00000381604:P167L	P	+	2	0	0	GSTP1	67110599	67110599	1.000000	0.71417	0.954000	0.39281	0.087000	0.18053	3.640000	0.54350	1.228000	0.43614	-0.251000	0.11542	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-3.251536	1	0.170000	NM_000852			41	39		158	149	1		1	1		0	0	39	0		1	1	0	1271	0	2756	0	41	158
NDUFV1	4723	broad.mit.edu	37	11	67376922	67376922	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000415352.2_Splice_Site|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_Splice_Site|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						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)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCCTGCAGGCCCAAGTAT	0.622																																						ENST00000322776.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.e4-1		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa							43.0	53.0	49.0					11																	67376922		2198	4294	6492	SO:0001630	splice_region_variant	4723	0	0					g.chr11:67376922G>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.327-1G>T	chr11.hg19:g.67376922G>T		0					NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_Splice_Site		NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	1	2	3	1.991067	P49821	NDUV1_HUMAN		4	479	+			O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Splice_Site	SNP	ENST00000322776.6	1	1	hg19		CCDS8173.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008643	0.54361	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	.	.	.	4.17	4.17	0.49024	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.095	0.65016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NDUFV1	67133498	67133498	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_007103	Intron		92	90		461	448	1		1	1		0	0	82	0		1	1.985534e-01	0	2	0	3	0	92	461
NUDT8	254552	broad.mit.edu	37	11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000376693.2	-	1	160	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	NUDT8_ENST00000301490.4_Missense_Mutation_p.L51M|RP11-655M14.13_ENST00000533311.1_lincRNA	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	51	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761																																						ENST00000376693.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				4						c.(151-153)Ctg>Atg		nudix (nucleoside diphosphate linked moiety X)-type motif 8							7.0	7.0	7.0					11																	67397232		1965	3874	5839	SO:0001583	missense	254552	0	0					g.chr11:67397232G>T	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.151C>A	chr11.hg19:g.67397232G>T	ENSP00000365883:p.Leu51Met	0					NUDT8_ENST00000301490.4_Missense_Mutation_p.L51M|RP11-655M14.13_ENST00000533311.1_lincRNA	p.L51M	NM_001243750.1	NP_001230679.1	1	2	3	1.991067	Q8WV74	NUDT8_HUMAN		1	160	-			Q6ZW59	Missense_Mutation	SNP	ENST00000376693.2	1	1	hg19	c.151C>A	CCDS58151.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132531	0.56828	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07908	3.15;3.15	2.94	2.94	0.34122	2.94	2.94	0.34122	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.108661	0.38837	U	0.001554	T	0.21761	0.0524	M	0.63208	1.945	0.39747	D	0.971835	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.01256	-1.1404	10	0.56958	D	0.05	-10.0279	9.5342	0.39213	0.0:0.0:1.0:0.0	.	51;51	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	M	51	ENSP00000301490:L51M;ENSP00000365883:L51M	ENSP00000301490:L51M	L	-	1	2	2	NUDT8	67153808	67153808	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.235000	0.51328	1.679000	0.50963	0.306000	0.20318	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_181843			20	20		83	81	0		1	1		0	0	17	0		9.999973e-01	9.908073e-01	0	13	0	21	0	20	83
TBX10	347853	broad.mit.edu	37	11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	137					anatomical structure morphogenesis (GO:0009653)|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)			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647																																						ENST00000335385.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(409-411)gCg>gTg		T-box 10							44.0	42.0	43.0					11																	67401799		2200	4289	6489	SO:0001583	missense	347853	1	121298	30				g.chr11:67401799G>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.410C>T	chr11.hg19:g.67401799G>A	ENSP00000335191:p.Ala137Val	0						p.A137V	NM_005995.4	NP_005986.2	1	2	3	1.991067	O75333	TBX10_HUMAN		4	497	-			Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	1	1	hg19	c.410C>T	CCDS31621.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347886	0.82022	.	.	ENSG00000167800	ENST00000335385	D	0.89681	-2.55	3.56	3.56	0.40772	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000010	D	0.94679	0.8284	M	0.88640	2.97	0.53688	D	0.999979	D	0.89917	1.0	D	0.72625	0.978	D	0.95633	0.8691	10	0.87932	D	0	.	14.0846	0.64947	0.0:0.0:1.0:0.0	.	137	O75333	TBX10_HUMAN	V	137	ENSP00000335191:A137V	ENSP00000335191:A137V	A	-	2	0	0	TBX10	67158375	67158375	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	5.323000	0.65858	1.839000	0.53478	0.305000	0.20034	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.182042	1	0.170000	NM_005995			70	69		336	326	1		1			0	0	62	0		1	0	0	0	0	0	0	70	336
ALDH3B2	222	broad.mit.edu	37	11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	86					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)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGTCCGCCCAGCACCACGGCA	0.647																																						ENST00000349015.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(256-258)Ctg>Atg		aldehyde dehydrogenase 3 family, member B2							82.0	84.0	83.0					11																	67433656		2200	4294	6494	SO:0001583	missense	222	0	0					g.chr11:67433656G>T	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.256C>A	chr11.hg19:g.67433656G>T	ENSP00000255084:p.Leu86Met	0					ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	p.L86M	NM_000695.3	NP_000686	1	2	3	1.991067	P48448	AL3B2_HUMAN		6	694	-			Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	1	1	hg19	c.256C>A	CCDS31622.1	1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541846	0.45280	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.19	2.24	0.28232	3.19	2.24	0.28232	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.980889	0.08310	N	0.965484	T	0.80226	0.4584	L	0.53561	1.675	0.23107	N	0.998288	P	0.48834	0.916	P	0.57620	0.824	T	0.65475	-0.6159	10	0.54805	T	0.06	.	3.3714	0.07222	0.226:0.0:0.5203:0.2536	.	86	P48448	AL3B2_HUMAN	M	86	ENSP00000431595:L86M;ENSP00000255084:L86M;ENSP00000433718:L86M;ENSP00000433466:L86M	ENSP00000255084:L86M	L	-	1	2	2	ALDH3B2	67190232	67190232	0.001000	0.12720	0.911000	0.35937	0.899000	0.52679	0.590000	0.23954	0.872000	0.35775	0.563000	0.77884	CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000	NM_000695			87	86		448	432	1		1			0	0	116	0		1	0	0	0	0	0	0	87	448
ALDH3B1	221	broad.mit.edu	37	11	67789274	67789274	+	Missense_Mutation	SNP	C	C	T	rs200028780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	ENST00000539229.1	+	8	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	295					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCAGCGGCTGCGGGCATTGCT	0.647																																						ENST00000539229.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(880-882)Cgg>Tgg		aldehyde dehydrogenase 3 family, member B1		C	,TRP/ARG,	3,4397	6.2+/-15.9	0,3,2197	46.0	56.0	53.0		882,772,882	2.9	0.0	11		53	0,8588		0,0,4294	no	coding-synonymous,missense,coding-synonymous	ALDH3B1	NM_000694.2,NM_001030010.1,NM_001161473.1	,101,	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	,probably-damaging,	294/468,258/432,294/468	67789274	3,12985	2200	4294	6494	SO:0001583	missense	221	6	121408	39				g.chr11:67789274C>T	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.880C>T	chr11.hg19:g.67789274C>T	ENSP00000474034:p.Arg294Trp	0					ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W	p.R294W	NM_001161473.1	NP_001154945.1	1	2	3	1.991067	P43353	AL3B1_HUMAN		8	996	+			A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	0	1	hg19	c.880C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	114		114	122	1	2.060000	-3.367045	1	0.170000	NM_000694			91	87		422	412	0		1	1		0	0	114	0		1	1	0	94	0	166	0	91	422
ALDH3B1	221	broad.mit.edu	37	11	67790162	67790162	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	ENST00000539229.1	+	10	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	350					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										AGCTTGGACGAGGCCATCGAG	0.657																																						ENST00000539229.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1042-1044)gAg>gCg		aldehyde dehydrogenase 3 family, member B1							123.0	112.0	116.0					11																	67790162		2200	4294	6494	SO:0001583	missense	221	0	0					g.chr11:67790162A>C	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1043A>C	chr11.hg19:g.67790162A>C	ENSP00000474034:p.Glu348Ala	0					ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A	p.E348A	NM_001161473.1	NP_001154945.1	1	2	3	1.991067	P43353	AL3B1_HUMAN		10	1159	+			A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	0	1	hg19	c.1043A>C		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_000694			85	85		370	358	0		1	1		0	0	73	0		1	1	0	75	0	169	0	85	370
TCIRG1	10312	broad.mit.edu	37	11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I|RP11-802E16.3_ENST00000526897.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	605					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642																																						ENST00000265686.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1813-1815)aGc>aTc		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							93.0	87.0	89.0					11																	67816688		2199	4294	6493	SO:0001583	missense	10312	0	0					g.chr11:67816688G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1814G>T	chr11.hg19:g.67816688G>T	ENSP00000265686:p.Ser605Ile	0					TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA	p.S605I	NM_006019.3	NP_006010.2	1	2	3	1.991067	Q13488	VPP3_HUMAN		15	1922	+			O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	1	1	hg19	c.1814G>T	CCDS8177.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797545	0.90538	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96547	0.9405	10	0.87932	D	0	-40.002	16.0297	0.80570	0.0:0.0:1.0:0.0	.	605	Q13488	VPP3_HUMAN	I	605;389	ENSP00000265686:S605I;ENSP00000434407:S389I	ENSP00000265686:S605I	S	+	2	0	0	TCIRG1	67573264	67573264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.553000	0.98118	2.350000	0.79820	0.555000	0.69702	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-3.403469	1	0.170000	NM_006019			132	132		579	569	1		1	1		0	0	117	0		1	1	0	29	0	160	0	132	579
SUV420H1	51111	broad.mit.edu	37	11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	784					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)			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						TTTTCCTCATCTCGTTTTAGC	0.413																																						ENST00000304363.4	1.000000	0.330000	5.500000e-01	3.900000e-01	0.460000	0.485881	0.460000	0.450000																										0				46						c.(2350-2352)Gat>Tat		suppressor of variegation 4-20 homolog 1 (Drosophila)							188.0	206.0	200.0					11																	67925463		2200	4294	6494	SO:0001583	missense	51111	0	0					g.chr11:67925463C>A	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.2350G>T	chr11.hg19:g.67925463C>A	ENSP00000305899:p.Asp784Tyr	0						p.D784Y	NM_017635.3	NP_060105	1	2	3	1.991067	Q4FZB7	SV421_HUMAN		11	2703	-			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	1	1	hg19	c.2350G>T	CCDS31623.1	0	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742774	0.69418	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.098404	0.64402	D	0.000001	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.58188	-0.7680	10	0.87932	D	0	-27.8809	19.1401	0.93444	0.0:1.0:0.0:0.0	.	784	Q4FZB7	SV421_HUMAN	Y	784	ENSP00000305899:D784Y	ENSP00000305899:D784Y	D	-	1	0	0	SUV420H1	67682039	67682039	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.375000	0.79646	2.536000	0.85505	0.491000	0.48974	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	1		2	2	2	0		0	0	208		208	207	1	2.060000	-4.122846	1	0.170000	NM_017635			41	39		1018	990	0		1	0		0	0	208	0		1	7.530666e-01	0	1	0	68	0	41	1018
SUV420H1	51111	broad.mit.edu	37	11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	673					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)			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						GAACAACCGACGGGTGAAGGA	0.493																																						ENST00000304363.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				46						c.(2017-2019)Gtc>Atc		suppressor of variegation 4-20 homolog 1 (Drosophila)							90.0	80.0	84.0					11																	67925796		2200	4294	6494	SO:0001583	missense	51111	14	121412	42				g.chr11:67925796C>T	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.2017G>A	chr11.hg19:g.67925796C>T	ENSP00000305899:p.Val673Ile	0						p.V673I	NM_017635.3	NP_060105	1	2	3	1.991067	Q4FZB7	SV421_HUMAN		11	2370	-			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	1	1	hg19	c.2017G>A	CCDS31623.1	1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150346	0.57151	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.04	4.13	0.48395	5.04	4.13	0.48395	.	0.701645	0.13851	N	0.358378	T	0.29524	0.0736	N	0.19112	0.55	0.47476	D	0.999434	B	0.27700	0.186	B	0.17098	0.017	T	0.10154	-1.0642	10	0.59425	D	0.04	-2.9363	13.4694	0.61273	0.0:0.925:0.0:0.075	.	673	Q4FZB7	SV421_HUMAN	I	673	ENSP00000305899:V673I	ENSP00000305899:V673I	V	-	1	0	0	SUV420H1	67682372	67682372	0.001000	0.12720	0.012000	0.15200	0.467000	0.32768	0.865000	0.27940	1.362000	0.46000	-0.339000	0.08088	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_017635			40	39		243	241	1		1	1		0	0	47	0		1	9.996296e-01	0	13	0	62	0	40	243
SUV420H1	51111	broad.mit.edu	37	11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000304363.4	-	7	1011	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	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)			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						TTGTCATTTCGTTTCCTATTT	0.299																																						ENST00000304363.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999765	0.990000	1.000000																										0				46						c.(658-660)Cga>Tga		suppressor of variegation 4-20 homolog 1 (Drosophila)							74.0	72.0	73.0					11																	67939172		2200	4294	6494	SO:0001587	stop_gained	51111	0	0					g.chr11:67939172G>A	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.658C>T	chr11.hg19:g.67939172G>A	ENSP00000305899:p.Arg220*	0					SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*	p.R220*	NM_017635.3	NP_060105	1	2	3	1.991067	Q4FZB7	SV421_HUMAN		7	1011	-			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	0	1	hg19	c.658C>T	CCDS31623.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	4.76	0.60689	5.73	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8323	15.8848	0.79238	0.0:0.0:0.864:0.136	.	.	.	.	X	220;220;220;220;197;48	.	ENSP00000305899:R220X	R	-	1	2	2	SUV420H1	67695748	67695748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.737000	0.68606	2.854000	0.98071	0.655000	0.94253	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_017635			36	35		237	233	1		1	1		0	0	55	0		1	9.999931e-01	0	2	0	120	0	36	237
LRP5	4041	broad.mit.edu	37	11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	349	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662																																						ENST00000294304.7	1.000000	0.280000	6.600000e-01	3.800000e-01	0.500000	0.530892	0.500000	0.480000																										0				63						c.(1045-1047)cGg>cAg		low density lipoprotein receptor-related protein 5							45.0	38.0	41.0					11																	68153814		2200	4294	6494	SO:0001583	missense	4041	0	0					g.chr11:68153814G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1046G>A	chr11.hg19:g.68153814G>A	ENSP00000294304:p.Arg349Gln	0						p.R349Q	NM_002335.2	NP_002326.2	1	2	3	1.991067	O75197	LRP5_HUMAN		6	1152	+			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	1	1	hg19	c.1046G>A	CCDS8181.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.338204	0.95758	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45361	U	0.000362	D	0.94742	0.8303	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94779	0.7952	10	0.48119	T	0.1	.	16.3309	0.83014	0.0:0.0:1.0:0.0	.	349	O75197	LRP5_HUMAN	Q	349	ENSP00000294304:R349Q	ENSP00000294304:R349Q	R	+	2	0	0	LRP5	67910390	67910390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.177000	0.69029	0.449000	0.29647	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	0	1		19	9	2	1		1	1	55		55	55	1	2.060000	-3.156085	1	0.170000	NM_002335			14	15		325	317	0		0	0		1	0	55	0		2.192315e-01	1.138620e-01	0	2	0	118	0	14	325
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597																																						ENST00000294304.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1645-1647)Ttt>Ctt		low density lipoprotein receptor-related protein 5							101.0	83.0	90.0					11																	68171011		2200	4294	6494	SO:0001583	missense	4041	0	0					g.chr11:68171011T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1645T>C	chr11.hg19:g.68171011T>C	ENSP00000294304:p.Phe549Leu	0						p.F549L	NM_002335.2	NP_002326.2	1	2	3	1.991067	O75197	LRP5_HUMAN		8	1751	+			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	1	1	hg19	c.1645T>C	CCDS8181.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.155240	0.94686	.	.	ENSG00000162337	ENST00000294304	D	0.91124	-2.79	4.13	4.13	0.48395	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	D	0.94228	0.8147	M	0.85859	2.78	0.80722	D	1	P	0.36392	0.551	P	0.50754	0.649	D	0.95161	0.8281	10	0.87932	D	0	.	13.6309	0.62193	0.0:0.0:0.0:1.0	.	549	O75197	LRP5_HUMAN	L	549	ENSP00000294304:F549L	ENSP00000294304:F549L	F	+	1	0	0	LRP5	67927587	67927587	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.727000	0.84838	1.882000	0.54519	0.528000	0.53228	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_002335			62	60		327	323	1		1	1		0	0	65	0		1	1	0	46	0	119	0	62	327
LRP5	4041	broad.mit.edu	37	11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	891	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607																																						ENST00000294304.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2671-2673)Gac>Aac		low density lipoprotein receptor-related protein 5							87.0	75.0	79.0					11																	68181324		2200	4294	6494	SO:0001583	missense	4041	0	0					g.chr11:68181324G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2671G>A	chr11.hg19:g.68181324G>A	ENSP00000294304:p.Asp891Asn	0						p.D891N	NM_002335.2	NP_002326.2	1	2	3	1.991067	O75197	LRP5_HUMAN		12	2777	+			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	1	1	hg19	c.2671G>A	CCDS8181.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.593856	0.96602	.	.	ENSG00000162337	ENST00000294304	D	0.91351	-2.83	5.02	5.02	0.67125	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.96510	0.8861	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	891;891	Q9UES7;O75197	.;LRP5_HUMAN	N	891	ENSP00000294304:D891N	ENSP00000294304:D891N	D	+	1	0	0	LRP5	67937900	67937900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_002335			52	51		232	230	1		1	1		0	0	67	0		1	9.999838e-01	0	24	0	52	0	52	232
LRP5	4041	broad.mit.edu	37	11	68191127	68191127	+	Silent	SNP	C	C	T	rs370274326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1066	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677																																						ENST00000294304.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3196-3198)cgC>cgT		low density lipoprotein receptor-related protein 5							76.0	70.0	72.0					11																	68191127		2200	4294	6494	SO:0001819	synonymous_variant	4041	3	121404	35				g.chr11:68191127C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3198C>T	chr11.hg19:g.68191127C>T		0						p.R1066R	NM_002335.2	NP_002326.2	1	2	3	1.991067	O75197	LRP5_HUMAN		14	3304	+			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	1	1	hg19	c.3198C>T	CCDS8181.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_002335			98	97		392	389	1		1	1		0	0	69	0		1	1	0	45	0	125	0	98	392
LRP5	4041	broad.mit.edu	37	11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1442					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642																																						ENST00000294304.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				63						c.(4324-4326)Ggt>Agt		low density lipoprotein receptor-related protein 5							23.0	23.0	23.0					11																	68206126		2200	4294	6494	SO:0001583	missense	4041	1	121400	32				g.chr11:68206126G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4324G>A	chr11.hg19:g.68206126G>A	ENSP00000294304:p.Gly1442Ser	0						p.G1442S	NM_002335.2	NP_002326.2	1	2	3	1.991067	O75197	LRP5_HUMAN		20	4430	+			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	1	1	hg19	c.4324G>A	CCDS8181.1	1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424492	0.01126	.	.	ENSG00000162337	ENST00000294304	D	0.92911	-3.13	4.53	1.35	0.21983	4.53	1.35	0.21983	.	0.238461	0.27306	N	0.019977	T	0.69548	0.3123	N	0.01048	-1.04	0.23708	N	0.997051	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.63166	-0.6698	10	0.06757	T	0.87	.	5.4872	0.16757	0.5554:0.0:0.4446:0.0	.	1442;1442	Q9UES7;O75197	.;LRP5_HUMAN	S	1442	ENSP00000294304:G1442S	ENSP00000294304:G1442S	G	+	1	0	0	LRP5	67962702	67962702	0.249000	0.23941	0.042000	0.18584	0.104000	0.19210	1.543000	0.36147	0.538000	0.28769	0.585000	0.79938	GGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_002335			31	30		121	116	1		1	1		0	0	37	0		1	1	0	53	0	109	0	31	121
MTL5	9633	broad.mit.edu	37	11	68517673	68517673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000255087.5	-	2	639	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000443940.2_Silent_p.G152G	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	152					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667																																						ENST00000255087.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999796	0.990000	1.000000																										0				15						c.(454-456)ggC>ggT		metallothionein-like 5, testis-specific (tesmin)							10.0	11.0	11.0					11																	68517673		2178	4277	6455	SO:0001819	synonymous_variant	9633	0	0					g.chr11:68517673G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.456C>T	chr11.hg19:g.68517673G>A		0					MTL5_ENST00000443940.2_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.G152G	p.G152G	NM_004923.3	NP_004914.2	1	2	3	1.991067	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)	2	639	-	Esophageal squamous(3;4.37e-12)		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	ENST00000255087.5	1	1	hg19	c.456C>T	CCDS8184.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_004923			16	16		67	65	1		1	0		0	0	13	0		9.999559e-01	4.186047e-02	0	1	0	1	0	16	67
MTL5	9633	broad.mit.edu	37	11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000255087.5	-	2	403	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000443940.2_Missense_Mutation_p.D74N	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	74					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697																																						ENST00000255087.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998737	0.990000	1.000000																										0				15						c.(220-222)Gac>Aac		metallothionein-like 5, testis-specific (tesmin)							13.0	12.0	13.0					11																	68517909		2191	4273	6464	SO:0001583	missense	9633	0	0					g.chr11:68517909C>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.220G>A	chr11.hg19:g.68517909C>T	ENSP00000255087:p.Asp74Asn	0					MTL5_ENST00000443940.2_Missense_Mutation_p.D74N|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N	p.D74N	NM_004923.3	NP_004914.2	1	2	3	1.991067	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)	2	403	-	Esophageal squamous(3;4.37e-12)		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	0	1	hg19	c.220G>A	CCDS8184.1	1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.066480	0.36470	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.52983	1.3;0.64;1.23	4.25	4.25	0.50352	4.25	4.25	0.50352	.	0.143613	0.31566	N	0.007438	T	0.52224	0.1721	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.70227	0.968;0.968;0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	-22.316	12.0095	0.53278	0.0:1.0:0.0:0.0	.	74;57;74	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	N	74	ENSP00000255087:D74N;ENSP00000403086:D74N;ENSP00000440968:D74N	ENSP00000255087:D74N	D	-	1	0	0	MTL5	68274485	68274485	0.121000	0.22262	0.152000	0.22495	0.053000	0.15095	2.985000	0.49362	2.204000	0.70986	0.306000	0.20318	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-19.964530	1	0.170000	NM_004923			11	11		46	46	0		1	1		0	0	9	0		9.988950e-01	3.524822e-01	0	3	0	3	0	11	46
MTL5	9633	broad.mit.edu	37	11	68518082	68518082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68518082G>A	ENST00000255087.5	-	2	230	c.47C>T	c.(46-48)gCg>gTg	p.A16V	MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V|MTL5_ENST00000443940.2_Missense_Mutation_p.A16V	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	16					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGTCACCATCGCATCCTCGGG	0.711																																						ENST00000255087.5	1.000000	0.190000	8.900000e-01	3.400000e-01	0.560000	0.599835	0.560000	1.000000																										0				15						c.(46-48)gCg>gTg		metallothionein-like 5, testis-specific (tesmin)							13.0	12.0	12.0					11																	68518082		2194	4285	6479	SO:0001583	missense	9633	0	0					g.chr11:68518082G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.47C>T	chr11.hg19:g.68518082G>A	ENSP00000255087:p.Ala16Val	0					MTL5_ENST00000443940.2_Missense_Mutation_p.A16V|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V	p.A16V	NM_004923.3	NP_004914.2	1	2	3	1.991067	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)	2	230	-	Esophageal squamous(3;4.37e-12)		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	0	1	hg19	c.47C>T	CCDS8184.1	0	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639166	0.29157	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.45668	1.49;0.89;1.48	3.69	1.31	0.21738	3.69	1.31	0.21738	.	0.174218	0.27219	N	0.020367	T	0.16300	0.0392	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12502	-1.0545	10	0.45353	T	0.12	-9.2933	4.1092	0.10052	0.203:0.0:0.2211:0.5759	.	16;16	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	V	16	ENSP00000255087:A16V;ENSP00000403086:A16V;ENSP00000440968:A16V	ENSP00000255087:A16V	A	-	2	0	0	MTL5	68274658	68274658	0.024000	0.19004	0.037000	0.18230	0.021000	0.10359	0.351000	0.20096	0.080000	0.16959	-0.701000	0.03672	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	0	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-7.316887	1	0.170000	NM_004923			4	4		88	87	0		1	0		0	0	10	0		8.893658e-01	0	0	0	0	1	0	4	88
CPT1A	1374	broad.mit.edu	37	11	68527694	68527694	+	Splice_Site	SNP	G	G	A	rs139057953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68527694G>A	ENST00000265641.5	-	17	2295	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000540367.1_Splice_Site_p.P714L|CPT1A_ENST00000539743.1_Splice_Site_p.P714L|CPT1A_ENST00000376618.2_Splice_Site_p.P714L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	714					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)			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)	CGCACTCACCGGTCCAAAGCC	0.622																																						ENST00000265641.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				42						c.(2140-2142)cCg>cTg		carnitine palmitoyltransferase 1A (liver)	Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	G	LEU/PRO,LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	44.0	38.0	40.0		2141,2141	3.8	0.9	11	dbSNP_134	40	0,8588		0,0,4294	no	missense-near-splice,missense-near-splice	CPT1A	NM_001031847.2,NM_001876.3	98,98	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	714/757,714/774	68527694	1,12987	2200	4294	6494	SO:0001630	splice_region_variant	1374	1	121390	29				g.chr11:68527694G>A	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.2142+1C>T	chr11.hg19:g.68527694G>A		0					CPT1A_ENST00000539743.1_Splice_Site_p.P714L|CPT1A_ENST00000540367.1_Splice_Site_p.P714L|CPT1A_ENST00000376618.2_Splice_Site_p.P714L|CPT1A_ENST00000537756.2_5'Flank	p.P714L	NM_001876.3	NP_001867.2	1	2	3	1.991067	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)	17	2295	-	Esophageal squamous(3;3.28e-14)		Q8TCU0|Q9BWK0	Splice_Site	SNP	ENST00000265641.5	1	0	hg19	c.2141C>T	CCDS8185.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186551	0.78789	2.27E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.78	3.83	0.44106	4.78	3.83	0.44106	.	0.111392	0.64402	D	0.000006	D	0.96911	0.8991	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.97974	1.0345	10	0.87932	D	0	.	15.0248	0.71659	0.0:0.143:0.857:0.0	.	714;714	P50416;P50416-2	CPT1A_HUMAN;.	L	714	ENSP00000439084:P714L;ENSP00000365803:P714L;ENSP00000265641:P714L;ENSP00000446108:P714L	ENSP00000265641:P714L	P	-	2	0	0	CPT1A	68284270	68284270	1.000000	0.71417	0.936000	0.37596	0.679000	0.39708	9.208000	0.95075	1.309000	0.44985	0.650000	0.86243	CCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_001876	Missense_Mutation		17	17		61	60	1		1	1		0	0	17	0		9.999820e-01	1	0	78	0	205	0	17	61
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	79					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632																																						ENST00000362034.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(235-237)gtC>gtT		mitochondrial ribosomal protein L21							117.0	103.0	108.0					11																	68664142		2200	4294	6494	SO:0001819	synonymous_variant	219927	16	121412	44				g.chr11:68664142G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.237C>T	chr11.hg19:g.68664142G>A		0					MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	p.V79V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	1	2	3	1.991067	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	4	246	-			A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	1	1	hg19	c.237C>T	CCDS8186.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	1	0	1		2	2	2	0		0	0	126		126	123	1	2.060000	-3.029159	1	0.170000	NM_181512			100	97		495	485	1		1	1		0	0	126	0		1	1	0	91	0	240	0	100	495
IGHMBP2	3508	broad.mit.edu	37	11	68703961	68703961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	671	SS DNA-binding. {ECO:0000250}.		T -> A (in dbSNP:rs622082).		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622																																						ENST00000255078.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2011-2013)acG>acA		immunoglobulin mu binding protein 2							35.0	40.0	38.0					11																	68703961		2200	4293	6493	SO:0001819	synonymous_variant	3508	0	0					g.chr11:68703961G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2013G>A	chr11.hg19:g.68703961G>A		0						p.T671T	NM_002180.2	NP_002171.2	1	2	3	1.991067	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	13	2124	+			A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	1	1	hg19	c.2013G>A	CCDS8187.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_002180			101	98		301	287	1		1	1		0	0	63	0		1	9.976625e-01	0	12	0	18	0	101	301
IGHMBP2	3508	broad.mit.edu	37	11	68707097	68707097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652																																						ENST00000255078.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(2878-2880)tcC>tcA		immunoglobulin mu binding protein 2							36.0	35.0	35.0					11																	68707097		2200	4294	6494	SO:0001819	synonymous_variant	3508	0	0					g.chr11:68707097C>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2880C>A	chr11.hg19:g.68707097C>A		0					RP11-757G1.5_ENST00000542410.1_RNA	p.S960S	NM_002180.2	NP_002171.2	1	2	3	1.991067	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	15	2991	+			A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	1	1	hg19	c.2880C>A	CCDS8187.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_002180			36	36		159	154	1		1	1		0	0	25	0		1	9.541246e-01	0	11	0	14	0	36	159
MRGPRD	116512	broad.mit.edu	37	11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	200						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)			GACAAAGAGGGTCAGGCTGGA	0.592																																						ENST00000309106.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				22						c.(598-600)aCc>aTc		MAS-related GPR, member D							48.0	44.0	45.0					11																	68747857		2200	4294	6494	SO:0001583	missense	116512	0	0					g.chr11:68747857G>A	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.599C>T	chr11.hg19:g.68747857G>A	ENSP00000310631:p.Thr200Ile	0						p.T200I	NM_198923.2	NP_944605.2	1	2	3	1.991067	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	1	598	-			Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	1	1	hg19	c.599C>T	CCDS31625.1	1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453938	0.12283	.	.	ENSG00000172938	ENST00000309106	T	0.36340	1.26	4.87	-4.03	0.04021	4.87	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.859950	0.09799	N	0.754331	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.34054	-0.9844	10	0.14252	T	0.57	-7.9404	7.0439	0.25035	0.6781:0.0:0.1932:0.1287	.	200	Q8TDS7	MRGRD_HUMAN	I	200	ENSP00000310631:T200I	ENSP00000310631:T200I	T	-	2	0	0	MRGPRD	68504433	68504433	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.983000	0.01488	-0.471000	0.06891	0.460000	0.39030	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-20.000000	1	0.170000	NM_198923			29	29		146	138	1		1			0	0	29	0		1	0	0	0	0	0	0	29	146
TPCN2	219931	broad.mit.edu	37	11	68821505	68821505	+	Silent	SNP	C	C	T	rs558916969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	38					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.001					ENST00000294309.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				32						c.(112-114)gcC>gcT		two pore segment channel 2							100.0	72.0	82.0					11																	68821505		2200	4294	6494	SO:0001819	synonymous_variant	219931	2	121410	34				g.chr11:68821505C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.114C>T	chr11.hg19:g.68821505C>T		0					TPCN2_ENST00000542467.1_Silent_p.A38A	p.A38A	NM_139075.3	NP_620714.2	1	2	3	1.991067	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	2	215	+			Q9NT82	Silent	SNP	ENST00000294309.3	1	1	hg19	c.114C>T	CCDS8189.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_139075			29	29		163	156	1		1	1		0	0	45	0		1	6.115188e-01	0	9	0	4	0	29	163
TPCN2	219931	broad.mit.edu	37	11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	210					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632																																						ENST00000294309.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(628-630)cGc>cAc		two pore segment channel 2							109.0	106.0	107.0					11																	68830434		2200	4294	6494	SO:0001583	missense	219931	0	0					g.chr11:68830434G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.629G>A	chr11.hg19:g.68830434G>A	ENSP00000294309:p.Arg210His	0					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H	p.R210H	NM_139075.3	NP_620714.2	1	2	3	1.991067	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)	6	730	+			Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	1	1	hg19	c.629G>A	CCDS8189.1	1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707623	0.30322	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98419	-4.92;-4.92	4.59	2.37	0.29283	4.59	2.37	0.29283	Ion transport (1);	0.185451	0.43260	N	0.000583	D	0.97961	0.9329	M	0.73962	2.25	0.19575	N	0.999961	D;D;B	0.76494	0.999;0.998;0.06	D;D;B	0.66979	0.948;0.912;0.038	D	0.92929	0.6362	10	0.19147	T	0.46	-20.9359	6.095	0.20015	0.4607:0.0:0.5393:0.0	.	210;210;125	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	H	140;210;125;210	ENSP00000294309:R210H;ENSP00000445551:R210H	ENSP00000294309:R210H	R	+	2	0	0	TPCN2	68587010	68587010	1.000000	0.71417	0.007000	0.13788	0.069000	0.16628	2.955000	0.49121	0.395000	0.25257	-1.194000	0.01681	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	1	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000	NM_139075			177	176		712	703	1		1	1		0	0	147	0		1	9.859258e-01	0	8	0	21	0	177	712
PPFIA1	8500	broad.mit.edu	37	11	70170552	70170552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.Q103Q|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	103					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)			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)			GCAGGGAACAGCTCCTTGAAA	0.423																																						ENST00000253925.7	1.000000	0.380000	6.500000e-01	4.500000e-01	0.540000	0.565766	0.540000	0.530000																										0				65						c.(307-309)caG>caA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							136.0	138.0	137.0					11																	70170552		2200	4294	6494	SO:0001819	synonymous_variant	8500	0	0					g.chr11:70170552G>A	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.309G>A	chr11.hg19:g.70170552G>A		0					AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.Q103Q|CTA-797E19.2_ENST00000526017.1_RNA	p.Q103Q	NM_003626.3	NP_003617.1	1	2	3	1.991067	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)	3	524	+			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	1	1	hg19	c.309G>A	CCDS31627.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	1		2	2	2	0		0	0	167		167	167	1	2.060000	-5.129159	1	0.170000	NM_003626			36	35		754	739	0		1	1		0	0	167	0		1	8.726012e-01	0	5	0	72	0	36	754
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T	rs201951162	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W|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	869					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.R869W(1)|p.R869R(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)			GGAGGAAGCCCGGAGACAAGG	0.478													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19691	0.0		0.001	False		,,,				2504	0.0					ENST00000253925.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R869W(1)|p.R869R(1)	lung(1)|prostate(1)	65						c.(2605-2607)Cgg>Tgg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							124.0	119.0	121.0					11																	70208223		2200	4294	6494	SO:0001583	missense	8500	4	121412	41				g.chr11:70208223C>T	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.2605C>T	chr11.hg19:g.70208223C>T	ENSP00000253925:p.Arg869Trp	0					AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W	p.R869W	NM_003626.3	NP_003617.1	1	2	3	1.991067	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)	20	2820	+			A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	1	1	hg19	c.2605C>T	CCDS31627.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.154992	0.78114	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.20332	2.08;2.08	5.42	4.5	0.54988	5.42	4.5	0.54988	.	0.073250	0.53938	D	0.000041	T	0.41766	0.1173	M	0.61703	1.905	0.50813	D	0.999897	D;D	0.89917	0.999;1.0	P;D	0.66351	0.878;0.943	T	0.34925	-0.9809	10	0.66056	D	0.02	.	14.1851	0.65601	0.2859:0.7141:0.0:0.0	.	869;869	Q13136;Q13136-2	LIPA1_HUMAN;.	W	869;869;366	ENSP00000253925:R869W;ENSP00000374198:R869W	ENSP00000253925:R869W	R	+	1	2	2	PPFIA1	69885871	69885871	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.834000	0.39171	1.281000	0.44480	0.555000	0.69702	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.392471	0	0.170000	NM_003626			62	60		346	335	1		1	1		0	0	76	0		1	1	0	48	0	182	0	62	346
PPFIA1	8500	broad.mit.edu	37	11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|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	1170					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)			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)			CTTCTTCTATGTCTTCCCCCT	0.498																																						ENST00000253925.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3508-3510)atG>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							144.0	129.0	134.0					11																	70224261		2200	4294	6494	SO:0001583	missense	8500	0	0					g.chr11:70224261G>A	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.3510G>A	chr11.hg19:g.70224261G>A	ENSP00000253925:p.Met1170Ile	0					AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	p.M1170I	NM_003626.3	NP_003617.1	1	2	3	1.991067	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)	26	3725	+			A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	1	1	hg19	c.3510G>A	CCDS31627.1	1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399360	0.25291	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.15952	2.39;2.38	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.311546	0.33092	U	0.005294	T	0.14743	0.0356	L	0.27053	0.805	0.41837	D	0.990101	B;B;B	0.14012	0.009;0.0;0.006	B;B;B	0.17098	0.017;0.001;0.005	T	0.05835	-1.0861	10	0.31617	T	0.26	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	667;1170;1170	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1170;1170;667;26	ENSP00000253925:M1170I;ENSP00000374198:M1170I	ENSP00000253925:M1170I	M	+	3	0	0	PPFIA1	69901909	69901909	1.000000	0.71417	0.663000	0.29738	0.128000	0.20619	5.863000	0.69568	2.180000	0.69256	0.561000	0.74099	ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_003626			88	86		429	425	1		1	1		0	0	116	0		1	1	0	53	0	126	0	88	429
CTTN	2017	broad.mit.edu	37	11	70256068	70256068	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000376561.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						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)				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)		ATGGATAAGGTAAGTGGCCCG	0.522																																						ENST00000301843.8	1.000000	0.220000	4.500000e-01	2.800000e-01	0.350000	0.386896	0.350000	0.350000																										0				31						c.e5+2		cortactin							139.0	139.0	139.0					11																	70256068		2200	4294	6494	SO:0001630	splice_region_variant	2017	0	0					g.chr11:70256068T>C	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.291+2T>C	chr11.hg19:g.70256068T>C		0					CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000346329.3_Splice_Site		NM_005231.3	NP_005222.2	1	2	3	1.991067	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	5	497	+			Q8N707|Q96H99	Splice_Site	SNP	ENST00000301843.8	1	1	hg19		CCDS41680.1	0	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036166	0.19590	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	4.71	4.71	0.59529	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CTTN	69933716	69933716	1.000000	0.71417	0.073000	0.20177	0.021000	0.10359	4.852000	0.62904	1.873000	0.54277	0.460000	0.39030	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	0	0	1		2	2	2	0		0	0	163		163	160	1	2.060000	-18.604190	1	0.170000	NM_138565	Intron		23	23		752	741	0		1			0	0	163	0		9.999992e-01	0	0	0	0	0	0	23	752
SHANK2	22941	broad.mit.edu	37	11	70319395	70319396	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395_70319396GG>AT	ENST00000423696.2	-	16	4027_4028	c.3991_3992CC>AT	c.(3991-3993)CCt>ATt	p.P1331I	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114I|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115I|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGCA	0.624																																						ENST00000423696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3991-3993)cCt>cTt|c.(3991-3993)Cct>Act		SH3 and multiple ankyrin repeat domains 2																																				SO:0001583	missense	22941	0	0					g.chr11:70319395G>A|g.chr11:70319396G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3991_3992delinsAT	chr11.hg19:g.70319395_70319396delinsAT	ENSP00000394536:p.Pro1331Ile	0					SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T	p.P1331L|p.P1331T			1	2	3	1.991067	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)	16	4028|4027	-			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	1	1	hg19	c.3992C>T|c.3991C>A		1																									5.91	5.91	0.95273																																												0			69997043|69997044														1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.624	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_012309			70|71	69|70		319|312	314|309	1		1	0		0	0	44	0		1	8.099482e-01|8.226213e-01	0	1	0	15	0	70	312
SHANK2	22941	broad.mit.edu	37	11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000423696.2	-	15	2587	c.2551T>G	c.(2551-2553)Tct>Gct	p.S851A	SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	851					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622																																						ENST00000423696.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				62						c.(2551-2553)Tct>Gct		SH3 and multiple ankyrin repeat domains 2							59.0	67.0	64.0					11																	70332710		2200	4294	6494	SO:0001583	missense	22941	0	0					g.chr11:70332710A>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2551T>G	chr11.hg19:g.70332710A>C	ENSP00000394536:p.Ser851Ala	0					SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A	p.S851A			1	2	3	1.991067	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)	15	2587	-			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	1	1	hg19	c.2551T>G		1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347053	0.24426	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	0.622	0.17648	4.88	0.622	0.17648	.	0.321940	0.33253	N	0.005116	T	0.33469	0.0864	M	0.65975	2.015	0.80722	D	1	B;B;B	0.32188	0.245;0.359;0.009	B;B;B	0.36845	0.08;0.234;0.015	T	0.08249	-1.0731	10	0.29301	T	0.29	.	0.4194	0.00453	0.2304:0.3182:0.1853:0.2661	.	851;1230;635	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	635;634;509;1231;851;869;854	ENSP00000399423:S635A;ENSP00000386491:S634A;ENSP00000402944:S509A;ENSP00000345193:S1231A;ENSP00000394536:S851A;ENSP00000294018:S854A	ENSP00000294018:S854A	S	-	1	0	0	SHANK2	70010358	70010358	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	2.898000	0.48672	0.172000	0.19760	0.459000	0.35465	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	83		83	78	1	2.060000	-20.000000	1	0.170000	NM_012309			71	72		464	457	1		1	0		0	0	83	0		1	1.819277e-02	0	1	0	1	0	71	464
SHANK2	22941	broad.mit.edu	37	11	70333167	70333167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000423696.2	-	15	2130	c.2094C>A	c.(2092-2094)ccC>ccA	p.P698P	SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000338508.4_Silent_p.P1078P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	698					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701																																						ENST00000423696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2092-2094)ccC>ccA		SH3 and multiple ankyrin repeat domains 2							29.0	35.0	33.0					11																	70333167		2162	4210	6372	SO:0001819	synonymous_variant	22941	0	0					g.chr11:70333167G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2094C>A	chr11.hg19:g.70333167G>T		0					SHANK2_ENST00000338508.4_Silent_p.P1078P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000409161.1_Silent_p.P481P	p.P698P			1	2	3	1.991067	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)	15	2130	-			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	1	1	hg19	c.2094C>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	76		76	69	1	2.060000	-3.482477	1	0.170000	NM_012309			109	106		433	424	1		1	0		0	0	76	0		1	4.118322e-02	0	1	0	1	0	109	433
DHCR7	1717	broad.mit.edu	37	11	71146496	71146496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	451					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACTTGCTGGCGCAGCGGTGCT	0.662									Smith-Lemli-Opitz syndrome																													ENST00000355527.3	1.000000	0.330000	6.800000e-01	4.300000e-01	0.540000	0.565054	0.540000	0.530000																										0				19						c.(1351-1353)tgC>tgT		7-dehydrocholesterol reductase							39.0	43.0	42.0					11																	71146496		2197	4293	6490	SO:0001819	synonymous_variant	1717	0	0		Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	g.chr11:71146496G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1353C>T	chr11.hg19:g.71146496G>A		0					DHCR7_ENST00000407721.2_Silent_p.C451C	p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	1	2	3	1.991067	Q9UBM7	DHCR7_HUMAN		9	1629	-			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	1	1	hg19	c.1353C>T	CCDS8200.1	0																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-4.828433	1	0.170000	NM_001360			20	20		426	421	0		1	1		0	0	66	0		9.999951e-01	9.984890e-01	0	20	0	201	0	20	426
DHCR7	1717	broad.mit.edu	37	11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	310					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCCAGACACAGTCGCCCCAGC	0.557									Smith-Lemli-Opitz syndrome																													ENST00000355527.3	1.000000	0.630000	1	7.700000e-01	0.930000	0.901458	0.930000	1.000000																										0				19						c.(928-930)gaC>gaA		7-dehydrocholesterol reductase							86.0	79.0	81.0					11																	71148891		2200	4294	6494	SO:0001583	missense	1717	0	0		Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	g.chr11:71148891G>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.930C>A	chr11.hg19:g.71148891G>T	ENSP00000347717:p.Asp310Glu	0					DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	1	2	3	1.991067	Q9UBM7	DHCR7_HUMAN		8	1206	-			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	1	1	hg19	c.930C>A	CCDS8200.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040308|4.040308	0.75732|0.75732	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137|ENST00000534795	D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9|.	4.57|4.57	2.67|2.67	0.31697|0.31697	4.57|4.57	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.91300|0.91300	3.195|3.195	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74262|0.74262	-0.3722|-0.3722	10|5	0.52906|.	T|.	0.07|.	-43.5291|-43.5291	6.1902|6.1902	0.20520|0.20520	0.328:0.0:0.672:0.0|0.328:0.0:0.672:0.0	.|.	310|.	Q9UBM7|.	DHCR7_HUMAN|.	E|M	310;310;60;99|96	ENSP00000384739:D310E;ENSP00000347717:D310E;ENSP00000435011:D60E;ENSP00000435956:D99E|.	ENSP00000347717:D310E|.	D|L	-|-	3|1	2|2	2|2	DHCR7|DHCR7	70826539|70826539	70826539|70826539	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.767000|0.767000	0.43475|0.43475	2.734000|2.734000	0.47368|0.47368	0.360000|0.360000	0.24265|0.24265	0.561000|0.561000	0.74099|0.74099	GAC|CTG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-20.000000	1	0.170000	NM_001360			28	28		330	323	1		1	1		0	0	74	0		1	9.999831e-01	0	39	0	165	0	28	330
DHCR7	1717	broad.mit.edu	37	11	71152458	71152458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	147			G -> D (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGGCTTGCAGGCCATTGATCT	0.547									Smith-Lemli-Opitz syndrome																													ENST00000355527.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999459	0.990000	1.000000																										0				19						c.(439-441)ggC>ggT		7-dehydrocholesterol reductase							137.0	106.0	117.0					11																	71152458		2200	4294	6494	SO:0001819	synonymous_variant	1717	0	0		Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	g.chr11:71152458G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.441C>T	chr11.hg19:g.71152458G>A		0					DHCR7_ENST00000407721.2_Silent_p.G147G	p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	1	2	3	1.991067	Q9UBM7	DHCR7_HUMAN		6	717	-			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	1	1	hg19	c.441C>T	CCDS8200.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001360			22	21		129	126	1		1	1		0	0	32	0		9.999990e-01	1	0	101	0	159	0	22	129
NADSYN1	55191	broad.mit.edu	37	11	71183494	71183494	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				25						c.e6-1		NAD synthetase 1	L-Glutamine(DB00130)						94.0	84.0	87.0					11																	71183494		2200	4294	6494	SO:0001630	splice_region_variant	55191	0	0					g.chr11:71183494G>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.408-1G>T	chr11.hg19:g.71183494G>T		0							NM_018161.4	NP_060631.2	1	2	3	1.991067	Q6IA69	NADE_HUMAN		6	595	+			B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Splice_Site	SNP	ENST00000319023.2	1	1	hg19		CCDS8201.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701848	0.48307	.	.	ENSG00000172890	ENST00000319023	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5064	0.50468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NADSYN1	70861142	70861142	1.000000	0.71417	0.687000	0.30102	0.115000	0.19883	6.783000	0.75078	2.073000	0.62155	0.561000	0.74099	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_018161	Intron		38	38		193	191	1		1	0		0	0	45	0		1	0	0	1	0	0	0	38	193
NADSYN1	55191	broad.mit.edu	37	11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	145	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.001				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				25						c.(433-435)cGg>cAg		NAD synthetase 1	L-Glutamine(DB00130)	G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	104.0	92.0	96.0		434	4.3	1.0	11	dbSNP_134	96	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	43	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	145/707	71183521	2,12986	2200	4294	6494	SO:0001583	missense	55191	35	121412	46				g.chr11:71183521G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.434G>A	chr11.hg19:g.71183521G>A	ENSP00000326424:p.Arg145Gln	0						p.R145Q	NM_018161.4	NP_060631.2	1	2	3	1.991067	Q6IA69	NADE_HUMAN		6	622	+			B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	1	1	hg19	c.434G>A	CCDS8201.1	1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296227	0.40594	4.55E-4	0.0	ENSG00000172890	ENST00000319023	D	0.87412	-2.25	4.26	4.26	0.50523	4.26	4.26	0.50523	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.70787	2.145	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	D	0.87925	0.2706	10	0.23302	T	0.38	-32.6813	12.0571	0.53542	0.0:0.0:1.0:0.0	.	145	Q6IA69	NADE_HUMAN	Q	145	ENSP00000326424:R145Q	ENSP00000326424:R145Q	R	+	2	0	0	NADSYN1	70861169	70861169	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.044000	0.64214	2.214000	0.71695	0.561000	0.74099	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	0		2	2	2	0		0	0	42		42	41	1	2.060000	-2.808673	1	0.170000	NM_018161			34	34		179	178	1		1	1		0	0	42	0		1	9.999763e-01	0	5	0	85	0	34	179
NADSYN1	55191	broad.mit.edu	37	11	71184618	71184618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	184	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(550-552)ccG>ccA		NAD synthetase 1	L-Glutamine(DB00130)						41.0	37.0	39.0					11																	71184618		2200	4294	6494	SO:0001819	synonymous_variant	55191	1	121392	24				g.chr11:71184618G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.552G>A	chr11.hg19:g.71184618G>A		0						p.P184P	NM_018161.4	NP_060631.2	1	2	3	1.991067	Q6IA69	NADE_HUMAN		8	740	+			B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	1	1	hg19	c.552G>A	CCDS8201.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-3.811929	1	0.170000	NM_018161			53	50		189	186	1		1	1		0	0	46	0		1	9.999903e-01	0	28	0	37	0	53	189
NADSYN1	55191	broad.mit.edu	37	11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T	rs371881712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	596	Ligase. {ECO:0000250}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.988276	0.990000	1.000000																										0				25						c.(1786-1788)gCg>gTg		NAD synthetase 1	L-Glutamine(DB00130)	C	VAL/ALA	1,4399		0,1,2199	118.0	115.0	116.0		1787	2.7	0.0	11		116	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	64	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign	596/707	71208551	1,12987	2200	4294	6494	SO:0001583	missense	55191	7	121412	38				g.chr11:71208551C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1787C>T	chr11.hg19:g.71208551C>T	ENSP00000326424:p.Ala596Val	0					NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V	p.A596V	NM_018161.4	NP_060631.2	1	2	3	1.991067	Q6IA69	NADE_HUMAN		19	1975	+			B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	1	1	hg19	c.1787C>T	CCDS8201.1	1	.	.	.	.	.	.	.	.	.	.	.	9.137	1.012864	0.19277	2.27E-4	0.0	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45276	0.9;0.9;0.9	4.81	2.69	0.31865	4.81	2.69	0.31865	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.853139	0.10244	N	0.697976	T	0.46814	0.1412	M	0.83012	2.62	0.09310	N	0.999998	B;B	0.21452	0.056;0.031	B;B	0.23419	0.046;0.037	T	0.44467	-0.9326	10	0.46703	T	0.11	-9.3763	8.6767	0.34183	0.1614:0.7441:0.0:0.0945	.	336;596	B3KUU4;Q6IA69	.;NADE_HUMAN	V	596;336;225	ENSP00000326424:A596V;ENSP00000443718:A336V;ENSP00000431820:A225V	ENSP00000326424:A596V	A	+	2	0	0	NADSYN1	70886199	70886199	0.023000	0.18921	0.003000	0.11579	0.111000	0.19643	2.339000	0.43965	1.031000	0.39867	0.591000	0.81541	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.221911	1	0.170000	NM_018161			25	25		212	207	1		1	1		0	0	46	0		9.999998e-01	9.999856e-01	0	5	0	151	0	25	212
NUMA1	4926	broad.mit.edu	37	11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 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						TCTGCAGCTGCTCCAGGCTCC	0.567			T	RARA	APL																																	ENST00000393695.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q13	11q13	4926	T	nuclear mitotic apparatus protein 1				L	L	RARA		APL		0				65						c.(4915-4917)gaG>gaT		nuclear mitotic apparatus protein 1																																				SO:0001583	missense	4926	0	0					g.chr11:71720154C>A	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.4917G>T	chr11.hg19:g.71720154C>A	ENSP00000377298:p.Glu1639Asp	0					NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	p.E1639D	NM_006185.2	NP_006176.2	1	2	3	1.991067				19	5248	-				Missense_Mutation	SNP	ENST00000393695.3	1	1	hg19	c.4917G>T	CCDS31633.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352129|2.352129	0.41700|0.41700	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.44083|.	2.04;0.93;2.42|.	5.24|5.24	4.33|4.33	0.51752|0.51752	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.49305|.	D|.	0.000142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.32530|0.32530	0.975|0.975	0.32596|0.32596	N|N	0.526508|0.526508	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.996|.	D;D;D;D;D|.	0.83275|.	0.99;0.996;0.994;0.99;0.987|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.37606|.	T|.	0.19|.	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.7626:0.0:0.2374|0.0:0.7626:0.0:0.2374	.|.	1645;1109;1625;1639;503|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	D|I	503;1625;1639;1188;594|470	ENSP00000260051:E503D;ENSP00000351851:E1625D;ENSP00000377298:E1639D|.	ENSP00000260051:E503D|.	E|S	-|-	3|2	2|0	2|0	NUMA1|NUMA1	71397802|71397802	71397802|71397802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.788000|1.788000	0.38714|0.38714	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	GAG|AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				50	46		250	248	1		1	1		0	0	47	0		1	1	0	79	0	200	0	50	250
NUMA1	4926	broad.mit.edu	37	11	71726974	71726974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 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						TGGCCTGCTGCTTCAGGCCAG	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q13	11q13	4926	T	nuclear mitotic apparatus protein 1				L	L	RARA		APL		0				65						c.(1573-1575)aaG>aaA		nuclear mitotic apparatus protein 1							134.0	124.0	127.0					11																	71726974		2200	4293	6493	SO:0001819	synonymous_variant	4926	0	0					g.chr11:71726974C>T	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.1575G>A	chr11.hg19:g.71726974C>T		0		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K|RP11-849H4.4_ENST00000502284.1_RNA	p.K525K	NM_006185.2	NP_006176.2	1	2	3	1.991067				15	1906	-				Silent	SNP	ENST00000393695.3	1	1	hg19	c.1575G>A	CCDS31633.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1		2	2	2	0		0	0	183		183	177	1	2.060000	-20.000000	1	0.170000				208	203		785	773	1		1	1		0	0	183	0		1	1	0	99	0	295	0	208	785
NUMA1	4926	broad.mit.edu	37	11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 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						CACACAAAGTCCAGTCTCTCT	0.468			T	RARA	APL																																	ENST00000393695.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q13	11q13	4926	T	nuclear mitotic apparatus protein 1				L	L	RARA		APL		0				65						c.(184-186)Gac>Aac		nuclear mitotic apparatus protein 1							116.0	106.0	109.0					11																	71735344		2200	4293	6493	SO:0001583	missense	4926	0	0					g.chr11:71735344C>T	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.184G>A	chr11.hg19:g.71735344C>T	ENSP00000377298:p.Asp62Asn	0					NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	p.D62N	NM_006185.2	NP_006176.2	1	2	3	1.991067				5	515	-				Missense_Mutation	SNP	ENST00000393695.3	1	1	hg19	c.184G>A	CCDS31633.1	1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447454	0.43429	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.84;0.84;0.84;0.84	5.12	2.04	0.26737	5.12	2.04	0.26737	.	0.834455	0.11087	N	0.601215	T	0.19485	0.0468	N	0.02916	-0.46	0.24399	N	0.994715	B;B;B;B;B;B	0.30281	0.013;0.275;0.275;0.0;0.001;0.0	B;B;B;B;B;B	0.27076	0.004;0.076;0.076;0.002;0.003;0.001	T	0.19614	-1.0300	10	0.10902	T	0.67	.	8.1203	0.30967	0.0:0.7078:0.0:0.2922	.	62;62;62;62;62;62	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	N	62	ENSP00000260051:D62N;ENSP00000351851:D62N;ENSP00000377298:D62N;ENSP00000444880:D62N;ENSP00000442936:D62N;ENSP00000442761:D62N;ENSP00000439759:D62N;ENSP00000438821:D62N;ENSP00000438589:D62N;ENSP00000439092:D62N;ENSP00000444175:D62N;ENSP00000439576:D62N;ENSP00000357955:D62N;ENSP00000438331:D62N;ENSP00000438318:D62N;ENSP00000441598:D62N	ENSP00000260051:D62N	D	-	1	0	0	NUMA1	71412992	71412992	0.861000	0.29849	0.986000	0.45419	0.966000	0.64601	0.095000	0.15127	0.733000	0.32492	0.655000	0.94253	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000				81	81		325	321	1		1	1		0	0	98	0		1	1	0	51	0	163	0	81	325
LRTOMT	220074	broad.mit.edu	37	11	71806076	71806076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71806076C>T	ENST00000289488.2	+	5	749	c.371C>T	c.(370-372)gCt>gTt	p.A124V	LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000419228.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000440313.2_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000435085.1_5'UTR|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000324866.7_Missense_Mutation_p.A124V	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	124						cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						AATAAGCTGGCTGTCCTTCCT	0.562																																						ENST00000289488.2	1.000000	0.130000	3.800000e-01	1.900000e-01	0.270000	0.312865	0.270000	0.260000																										0				4						c.(370-372)gCt>gTt		leucine rich transmembrane and O-methyltransferase domain containing							103.0	98.0	100.0					11																	71806076		2200	4293	6493	SO:0001583	missense	220074	0	0					g.chr11:71806076C>T		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.371C>T	chr11.hg19:g.71806076C>T	ENSP00000289488:p.Ala124Val	0					LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000324866.7_Missense_Mutation_p.A124V|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000440313.2_5'UTR|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_5'UTR	p.A124V	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	1	2	3	1.991067	Q96E66	LRC51_HUMAN		5	749	+			B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	ENST00000289488.2	0	1	hg19	c.371C>T	CCDS8208.1	0	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388637	0.61956	.	.	ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917	T;T;T;T;T;T;T;T	0.61627	0.09;0.35;0.09;0.09;0.35;0.35;0.35;0.35	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.129035	0.49916	D	0.000131	T	0.53997	0.1831	L	0.53249	1.67	0.80722	D	1	B;B;B	0.31009	0.059;0.303;0.059	B;B;B	0.28232	0.087;0.069;0.055	T	0.54166	-0.8334	10	0.44086	T	0.13	-10.6208	16.2262	0.82293	0.0:1.0:0.0:0.0	.	106;124;124	Q96E66-6;Q96E66-2;Q96E66	.;.;LRC51_HUMAN	V	124;124;106;124;124;124;124;124	ENSP00000289488:A124V;ENSP00000414271:A124V;ENSP00000441249:A106V;ENSP00000444583:A124V;ENSP00000440693:A124V;ENSP00000395139:A124V;ENSP00000438522:A124V;ENSP00000443421:A124V	ENSP00000289488:A124V	A	+	2	0	0	LRTOMT	71483724	71483724	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.159000	0.42339	2.575000	0.86900	0.609000	0.83330	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.420875	1	0.170000	NM_145309			10	10		438	427	0		1	1		0	0	103	0		9.965422e-01	4.527631e-01	0	3	0	61	0	10	438
FOLR3	2352	broad.mit.edu	37	11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T|FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	185					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587																																						ENST00000445078.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(679-681)Gcc>Acc		folate receptor 3 (gamma)	Folic Acid(DB00158)						40.0	45.0	43.0					11																	71850696		2199	4292	6491	SO:0001583	missense	2352	1	121406	32				g.chr11:71850696G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.679G>A	chr11.hg19:g.71850696G>A	ENSP00000390338:p.Ala227Thr	0					FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T|FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T	p.A227T			1	2	3	1.991067	P41439	FOLR3_HUMAN		5	750	+			J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	1	1	hg19	c.679G>A		1	.	.	.	.	.	.	.	.	.	.	N	12.05	1.820448	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.76839	-1.05;-1.05;-1.05	2.94	-0.6	0.11642	2.94	-0.6	0.11642	Folate receptor-like (1);	0.923253	0.08805	U	0.891177	T	0.75221	0.3820	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.948	P;P	0.52793	0.709;0.7	T	0.62891	-0.6758	8	.	.	.	.	3.5719	0.07921	0.2756:0.0:0.5283:0.196	.	229;185	E9PGT2;P41439	.;FOLR3_HUMAN	T	227;229;186	ENSP00000390338:A227T;ENSP00000399235:A229T;ENSP00000411161:A186T	.	A	+	1	0	0	FOLR3	71528344	71528344	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.804000	0.27098	0.092000	0.17331	0.467000	0.42956	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	0	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.288451	1	0.170000	NM_000804			78	75		337	333	1		1			0	0	85	0		1	0	0	0	0	0	0	78	337
FOLR3	2352	broad.mit.edu	37	11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	228					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532																																						ENST00000445078.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				13						c.(808-810)gCt>gTt		folate receptor 3 (gamma)	Folic Acid(DB00158)						37.0	39.0	38.0					11																	71850826		2199	4293	6492	SO:0001583	missense	2352	0	0					g.chr11:71850826C>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.809C>T	chr11.hg19:g.71850826C>T	ENSP00000390338:p.Ala270Val	0					FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V|FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V	p.A270V			1	2	3	1.991067	P41439	FOLR3_HUMAN		5	880	+			J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	1	1	hg19	c.809C>T		1	.	.	.	.	.	.	.	.	.	.	N	12.66	2.005899	0.35415	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75477	-0.7;-0.7;-0.94	2.94	2.94	0.34122	2.94	2.94	0.34122	.	0.329884	0.24267	U	0.040024	D	0.83505	0.5269	.	.	.	0.39347	D	0.965682	D;D	0.89917	0.997;1.0	D;D	0.76071	0.985;0.987	D	0.84804	0.0786	8	.	.	.	.	11.6457	0.51259	0.0:1.0:0.0:0.0	.	272;228	E9PGT2;P41439	.;FOLR3_HUMAN	V	270;272;229	ENSP00000390338:A270V;ENSP00000399235:A272V;ENSP00000411161:A229V	.	A	+	2	0	0	FOLR3	71528474	71528474	0.991000	0.36638	0.144000	0.22314	0.029000	0.11900	3.037000	0.49775	1.638000	0.50547	0.467000	0.42956	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_000804			34	34		193	190	1		1			0	0	38	0		1	0	0	0	0	0	0	34	193
FOLR1	2348	broad.mit.edu	37	11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	173					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CGCAGTGGGAGCTGCCTGCCA	0.527																																						ENST00000393679.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(517-519)Gct>Act		folate receptor 1 (adult)	Methotrexate(DB00563)						99.0	96.0	97.0					11																	71906964		2200	4293	6493	SO:0001583	missense	2348	0	0					g.chr11:71906964G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.517G>A	chr11.hg19:g.71906964G>A	ENSP00000377284:p.Ala173Thr	0					FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T	p.A173T			1	2	3	1.991067	P15328	FOLR1_HUMAN		5	953	+			Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	1	1	hg19	c.517G>A	CCDS8211.1	1	.	.	.	.	.	.	.	.	.	.	g	9.244	1.039153	0.19669	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.11	2.19	0.27852	4.11	2.19	0.27852	Folate receptor-like (1);	0.469100	0.24499	N	0.037984	T	0.67804	0.2932	L	0.41710	1.295	0.20074	N	0.999932	P	0.40578	0.722	P	0.45946	0.498	T	0.54443	-0.8293	10	0.20519	T	0.43	-6.2945	3.6157	0.08077	0.2076:0.0:0.5941:0.1983	.	173	P15328	FOLR1_HUMAN	T	173	ENSP00000308137:A173T;ENSP00000377286:A173T;ENSP00000377284:A173T;ENSP00000377281:A173T	ENSP00000308137:A173T	A	+	1	0	0	FOLR1	71584612	71584612	0.000000	0.05858	0.319000	0.25293	0.014000	0.08584	0.030000	0.13688	0.473000	0.27368	-0.311000	0.09066	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_016725			89	86		472	453	1		1	1		0	0	100	0		1	5.417763e-01	0	2	0	9	0	89	472
INPPL1	3636	broad.mit.edu	37	11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V|INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	411					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637																																						ENST00000298229.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1231-1233)Atg>Gtg		inositol polyphosphate phosphatase-like 1							67.0	57.0	61.0					11																	71941873		2200	4293	6493	SO:0001583	missense	3636	0	0					g.chr11:71941873A>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1231A>G	chr11.hg19:g.71941873A>G	ENSP00000298229:p.Met411Val	0					INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V|INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V	p.M411V	NM_001567.3	NP_001558.3	1	2	3	1.991067	O15357	SHIP2_HUMAN		11	1435	+			B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	1	1	hg19	c.1231A>G	CCDS8213.1	1	.	.	.	.	.	.	.	.	.	.	a	16.23	3.063960	0.55432	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.94931	-3.56;-3.56;-3.56	5.55	5.55	0.83447	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.46157	1.445	0.43499	D	0.995749	P	0.43788	0.817	B	0.38500	0.275	D	0.92645	0.6128	10	0.87932	D	0	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	411	O15357	SHIP2_HUMAN	V	411;169;169	ENSP00000298229:M411V;ENSP00000446360:M169V;ENSP00000444619:M169V	ENSP00000298229:M411V	M	+	1	0	0	INPPL1	71619521	71619521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.936000	0.92931	2.108000	0.64289	0.379000	0.24179	ATG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_001567			50	50		222	219	1		1	1		0	0	60	0		1	9.999996e-01	0	26	0	76	0	50	222
INPPL1	3636	broad.mit.edu	37	11	71948167	71948167	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582																																						ENST00000298229.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.e26-1		inositol polyphosphate phosphatase-like 1							56.0	64.0	61.0					11																	71948167		2200	4293	6493	SO:0001630	splice_region_variant	3636	0	0					g.chr11:71948167G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2880-1G>T	chr11.hg19:g.71948167G>T		0					INPPL1_ENST00000541756.1_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site|PHOX2A_ENST00000544057.1_5'Flank		NM_001567.3	NP_001558.3	1	2	3	1.991067	O15357	SHIP2_HUMAN		26	3083	+			B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	1	1	hg19		CCDS8213.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429636	0.43122	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	INPPL1	71625815	71625815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.309000	0.72825	2.513000	0.84729	0.563000	0.77884	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_001567	Intron		108	107		461	454	1		1	1		0	0	76	0		1	5.344015e-01	0	9	0	0	0	108	461
CLPB	81570	broad.mit.edu	37	11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	107					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTGCTGGGGACCCCGTTCCAG	0.622											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294053.3	1.000000	0.150000	3.800000e-01	2.100000e-01	0.280000	0.317099	0.280000	0.270000																										0				19						c.(319-321)Gtc>Atc		ClpB caseinolytic peptidase B homolog (E. coli)							52.0	55.0	54.0					11																	72145200		2200	4293	6493	SO:0001583	missense	81570	0	0					g.chr11:72145200C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.319G>A	chr11.hg19:g.72145200C>T	ENSP00000294053:p.Val107Ile	0		OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I	p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	1	2	3	1.991067	Q9H078	CLPB_HUMAN		1	492	-			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	1	1	hg19	c.319G>A	CCDS8215.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364430|2.364430	0.41902|0.41902	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000535990;ENST00000437826|ENST00000294053;ENST00000538039;ENST00000340729	T;T|T;T;T	0.36157|0.66638	1.27;2.27|1.92;1.21;-0.22	4.51|4.51	3.57|3.57	0.40892|0.40892	4.51|4.51	3.57|3.57	0.40892|0.40892	.|.	.|0.224693	.|0.27451	.|N	.|0.019310	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.14661|0.14661	0.345|0.345	0.25689|0.25689	N|N	0.985717|0.985717	B|B;B;B	0.17667|0.24483	0.023|0.03;0.034;0.104	B|B;B;B	0.18263|0.24394	0.021|0.037;0.053;0.024	T|T	0.44997|0.44997	-0.9291|-0.9291	9|10	0.87932|0.52906	D|T	0|0.07	-9.4933|-9.4933	9.7795|9.7795	0.40640|0.40640	0.2059:0.7941:0.0:0.0|0.2059:0.7941:0.0:0.0	.|.	26|107;107;107	E7EWN6|F8W7P6;Q9H078-2;Q9H078	.|.;.;CLPB_HUMAN	D|I	76;26|107	ENSP00000443822:G76D;ENSP00000407296:G26D|ENSP00000294053:V107I;ENSP00000441518:V107I;ENSP00000340385:V107I	ENSP00000407296:G26D|ENSP00000294053:V107I	G|V	-|-	2|1	0|0	0|0	CLPB|CLPB	71822848|71822848	71822848|71822848	0.822000|0.822000	0.29219|0.29219	0.929000|0.929000	0.37066|0.37066	0.422000|0.422000	0.31414|0.31414	1.858000|1.858000	0.39408|0.39408	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GGT|GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.412686	1	0.170000	NM_030813			14	14		590	581	0		1	0		0	0	97	0		9.997297e-01	3.743603e-01	0	1	0	52	0	14	590
PDE2A	5138	broad.mit.edu	37	11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	334	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTGATGACAGGGACACAGAGC	0.592																																						ENST00000334456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1000-1002)Cct>Tct		phosphodiesterase 2A, cGMP-stimulated	Caffeine(DB00201)|Tofisopam(DB08811)						72.0	63.0	66.0					11																	72299898		2200	4293	6493	SO:0001583	missense	5138	0	0					g.chr11:72299898G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1000C>T	chr11.hg19:g.72299898G>A	ENSP00000334910:p.Pro334Ser	0					PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000376450.3_Intron	p.P334S	NM_002599.4	NP_002590.1	1	2	3	1.991067	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)	13	1245	-			B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	1	1	hg19	c.1000C>T	CCDS8216.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959321|4.959321	0.92726|0.92726	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|D;D;D;D;D;D	.|0.95447	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.25|5.25	5.25|5.25	0.73442|0.73442	5.25|5.25	5.25|5.25	0.73442|0.73442	.|GAF (2);	0.692859|0.692859	0.13673|0.13673	N|N	0.370724|0.370724	D|D	0.97247|0.97247	0.9100|0.9100	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.989;0.998;0.999;1.0;0.999	D|D	0.97102|0.97102	0.9798|0.9798	6|10	.|0.87932	.|D	.|0	.|.	17.4063|17.4063	0.87474|0.87474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;334;325;327;334	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	L|S	95|334;325;403;327;219;325;158	.|ENSP00000334910:P334S;ENSP00000411657:P325S;ENSP00000442256:P327S;ENSP00000410310:P219S;ENSP00000446399:P325S;ENSP00000439077:P158S	.|ENSP00000334910:P334S	P|P	-|-	2|1	0|0	0|0	PDE2A|PDE2A	71977546|71977546	71977546|71977546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.496000|9.496000	0.97967|0.97967	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.701473	1	0.170000	NM_002599			78	77		297	294	1		1	1		0	0	74	0		1	8.937140e-01	0	3	0	14	0	78	297
ARAP1	116985	broad.mit.edu	37	11	72408500	72408500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72408500C>A	ENST00000393609.3	-	21	3023	c.2821G>T	c.(2821-2823)Gac>Tac	p.D941Y	ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.D941Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	941					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCATGAAGTCCAGCCGCCGC	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000393609.3	1.000000	0.220000	7.300000e-01	3.400000e-01	0.500000	0.539413	0.500000	0.470000																										0				27						c.(2821-2823)Gac>Tac		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							19.0	22.0	21.0					11																	72408500		2199	4290	6489	SO:0001583	missense	116985	1	121360	39				g.chr11:72408500C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2821G>T	chr11.hg19:g.72408500C>A	ENSP00000377233:p.Asp941Tyr	0					ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.D941Y	p.D941Y	NM_001040118.2	NP_001035207.1	1	2	3	1.991067	Q96P48	ARAP1_HUMAN		21	3023	-			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	0	1	hg19	c.2821G>T	CCDS41687.1	0	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773975	0.90108	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.09	5.09	0.68999	5.09	5.09	0.68999	Pleckstrin homology domain (1);	0.174867	0.47852	D	0.000210	T	0.60805	0.2297	M	0.72353	2.195	0.47374	D	0.999408	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.938;0.972;0.989;0.997	T	0.65113	-0.6247	10	0.87932	D	0	.	17.0879	0.86616	0.0:1.0:0.0:0.0	.	696;635;941;941;701	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Y	941;941;701;696;941;696;635;229;229	ENSP00000352332:D941Y;ENSP00000390461:D941Y;ENSP00000377230:D701Y;ENSP00000335506:D696Y;ENSP00000377233:D941Y;ENSP00000392264:D696Y;ENSP00000403127:D635Y;ENSP00000411452:D229Y;ENSP00000399118:D229Y	ENSP00000335506:D696Y	D	-	1	0	0	ARAP1	72086148	72086148	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.589000	0.67523	2.366000	0.80165	0.460000	0.39030	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	0	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-3.944929	1	0.170000	NM_001040118			7	6		167	164	0		1	1		0	0	38	0		9.796386e-01	9.870476e-01	0	6	0	186	0	7	167
ARAP1	116985	broad.mit.edu	37	11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000393609.3	-	6	981	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000359373.5_Missense_Mutation_p.A260V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	260					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000393609.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(778-780)gCc>gTc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							139.0	118.0	125.0					11																	72423582		2200	4293	6493	SO:0001583	missense	116985	0	0					g.chr11:72423582G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.779C>T	chr11.hg19:g.72423582G>A	ENSP00000377233:p.Ala260Val	0					ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000359373.5_Missense_Mutation_p.A260V	p.A260V	NM_001040118.2	NP_001035207.1	1	2	3	1.991067	Q96P48	ARAP1_HUMAN		6	981	-			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	1	1	hg19	c.779C>T	CCDS41687.1	1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453783	0.63290	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.24;3.19;3.24;3.18	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.493437	0.17716	N	0.164432	T	0.06462	0.0166	L	0.27053	0.805	0.30659	N	0.754637	B;B;P;P;P	0.42908	0.437;0.437;0.793;0.689;0.573	B;B;B;B;B	0.35182	0.046;0.046;0.197;0.097;0.099	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.2025	0.54335	0.0:0.0:1.0:0.0	.	15;15;260;260;20	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	V	260;260;20;15;260;15;15;49	ENSP00000352332:A260V;ENSP00000390461:A260V;ENSP00000377230:A20V;ENSP00000335506:A15V;ENSP00000377233:A260V;ENSP00000392264:A15V;ENSP00000403127:A15V	ENSP00000335506:A15V	A	-	2	0	0	ARAP1	72101230	72101230	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	4.806000	0.62569	2.250000	0.74265	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	1	0	1		2	2	2	0		0	0	187		187	176	1	2.060000	-20.000000	1	0.170000	NM_001040118			238	232		1037	994	1		1	1		0	0	187	0		1	1	0	16	0	121	0	238	1037
FCHSD2	9873	broad.mit.edu	37	11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000409418.4	-	13	1680	c.1297A>G	c.(1297-1299)Act>Gct	p.T433A	RNU6-672P_ENST00000383911.1_RNA|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	433										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418																																						ENST00000409418.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.996961	0.990000	1.000000																										0				22						c.(1297-1299)Act>Gct		FCH and double SH3 domains 2							80.0	75.0	77.0					11																	72578921		2200	4293	6493	SO:0001583	missense	9873	0	0					g.chr11:72578921T>C	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.1297A>G	chr11.hg19:g.72578921T>C	ENSP00000386722:p.Thr433Ala	0					RNU6-672P_ENST00000383911.1_RNA|FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A	p.T433A	NM_014824.2	NP_055639.2	1	2	3	1.991067	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)	13	1680	-			B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	1	1	hg19	c.1297A>G	CCDS8218.2	1	.	.	.	.	.	.	.	.	.	.	T	5.766	0.325774	0.10900	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.42131	2.58;2.67;2.69;2.55;0.98	5.78	4.62	0.57501	5.78	4.62	0.57501	.	0.957063	0.08803	N	0.891462	T	0.14485	0.0350	N	0.00926	-1.1	0.28941	N	0.890961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15665	-1.0429	10	0.06625	T	0.88	-17.6345	8.3069	0.32047	0.3462:0.0:0.0:0.6538	.	297;433;377	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	A	377;457;433;297;377	ENSP00000308978:T377A;ENSP00000386987:T457A;ENSP00000386722:T433A;ENSP00000402972:T297A;ENSP00000386314:T377A	ENSP00000308978:T377A	T	-	1	0	0	FCHSD2	72256569	72256569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.518000	0.35877	2.198000	0.70561	0.533000	0.62120	ACT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.998570	1	0.170000	NM_014824			13	13		74	74	1		1	1		0	0	21	0		9.996758e-01	9.999921e-01	0	3	0	138	0	13	74
P2RY2	5029	broad.mit.edu	37	11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647																																						ENST00000311131.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(742-744)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						106.0	96.0	99.0					11																	72945946		2200	4293	6493	SO:0001583	missense	5029	0	0					g.chr11:72945946G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.742G>A	chr11.hg19:g.72945946G>A	ENSP00000310305:p.Ala248Thr	0					P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T	p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	1	2	3	1.991067	P41231	P2RY2_HUMAN		3	1209	+			B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	1	1	hg19	c.742G>A	CCDS8219.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157056	0.38119	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.35236	1.32;1.32;1.32	4.42	4.42	0.53409	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.122925	0.51477	D	0.000086	T	0.30070	0.0753	L	0.53671	1.685	0.33178	D	0.549133	P	0.39696	0.683	B	0.36845	0.234	T	0.50833	-0.8781	10	0.59425	D	0.04	.	6.7979	0.23734	0.2067:0.0:0.7933:0.0	.	248	P41231	P2RY2_HUMAN	T	248	ENSP00000377222:A248T;ENSP00000310305:A248T;ENSP00000377221:A248T	ENSP00000310305:A248T	A	+	1	0	0	P2RY2	72623594	72623594	0.960000	0.32886	0.666000	0.29783	0.606000	0.37113	2.458000	0.45014	2.170000	0.68504	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.975102	1	0.170000	NM_176072			108	104		392	383	1		1	1		0	0	96	0		1	8.052768e-01	0	7	0	6	0	108	392
P2RY2	5029	broad.mit.edu	37	11	72945948	72945948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393597.2_Silent_p.A248A|P2RY2_ENST00000393596.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642																																						ENST00000311131.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(742-744)gcC>gcT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						107.0	97.0	100.0					11																	72945948		2200	4293	6493	SO:0001819	synonymous_variant	5029	0	0					g.chr11:72945948C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.744C>T	chr11.hg19:g.72945948C>T		0					P2RY2_ENST00000393597.2_Silent_p.A248A|P2RY2_ENST00000393596.2_Silent_p.A248A	p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	1	2	3	1.991067	P41231	P2RY2_HUMAN		3	1211	+			B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	1	1	hg19	c.744C>T	CCDS8219.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.436088	1	0.170000	NM_176072			100	97		403	394	1		1	1		0	0	98	0		1	7.971808e-01	0	2	0	12	0	100	403
ARHGEF17	9828	broad.mit.edu	37	11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	403					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657																																						ENST00000263674.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1207-1209)gAc>gTc		Rho guanine nucleotide exchange factor (GEF) 17																																				SO:0001583	missense	9828	0	0					g.chr11:73020891A>T	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.1208A>T	chr11.hg19:g.73020891A>T	ENSP00000263674:p.Asp403Val	0					RP11-800A3.7_ENST00000546324.1_RNA	p.D403V	NM_014786.3	NP_055601.2	1	2	3	1.991067	Q96PE2	ARHGH_HUMAN		1	1558	+			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	1	1	hg19	c.1208A>T	CCDS8221.1	1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574003	0.45902	.	.	ENSG00000110237	ENST00000263674	T	0.67171	-0.25	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.163752	0.29246	N	0.012717	T	0.59018	0.2163	L	0.27053	0.805	0.58432	D	0.999999	P	0.41748	0.761	P	0.46585	0.521	T	0.63651	-0.6589	10	0.87932	D	0	-12.0854	9.8212	0.40883	1.0:0.0:0.0:0.0	.	403	Q96PE2	ARHGH_HUMAN	V	403	ENSP00000263674:D403V	ENSP00000263674:D403V	D	+	2	0	0	ARHGEF17	72698539	72698539	1.000000	0.71417	0.912000	0.35992	0.766000	0.43426	6.063000	0.71162	1.821000	0.53095	0.379000	0.24179	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	0	0	1		17	4	2	1		1	1	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_014786			61	60		269	264	1		1	0		1	0	68	0		1	9.631135e-01	0	3	0	40	0	61	269
ARHGEF17	9828	broad.mit.edu	37	11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1706					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667																																						ENST00000263674.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(5116-5118)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 17							23.0	24.0	24.0					11																	73074371		2199	4293	6492	SO:0001583	missense	9828	0	0					g.chr11:73074371G>A	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.5117G>A	chr11.hg19:g.73074371G>A	ENSP00000263674:p.Ser1706Asn	0						p.S1706N	NM_014786.3	NP_055601.2	1	2	3	1.991067	Q96PE2	ARHGH_HUMAN		15	5467	+			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	1	1	hg19	c.5117G>A	CCDS8221.1	1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763094	0.69763	.	.	ENSG00000110237	ENST00000263674	T	0.60424	0.19	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.046414	0.85682	D	0.000000	T	0.46889	0.1416	L	0.27053	0.805	0.52099	D	0.99994	P	0.36599	0.56	B	0.33121	0.158	T	0.52624	-0.8551	10	0.59425	D	0.04	-21.2442	18.2437	0.89977	0.0:0.0:1.0:0.0	.	1706	Q96PE2	ARHGH_HUMAN	N	1706	ENSP00000263674:S1706N	ENSP00000263674:S1706N	S	+	2	0	0	ARHGEF17	72752019	72752019	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.895000	0.87343	2.626000	0.88956	0.650000	0.86243	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_014786			33	33		139	136	1		1	0		0	0	31	0		1	9.999763e-01	0	0	0	74	0	33	139
RELT	84957	broad.mit.edu	37	11	73103471	73103471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73103471G>A	ENST00000064780.2	+	6	844	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	RELT_ENST00000393580.2_Missense_Mutation_p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	195						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCACTGCACGGCGCACAAGGA	0.682																																						ENST00000064780.2	1.000000	0.170000	5.800000e-01	2.600000e-01	0.390000	0.433457	0.390000	0.370000																										0				12						c.(583-585)Gcg>Acg		RELT tumor necrosis factor receptor							43.0	47.0	45.0					11																	73103471		2200	4293	6493	SO:0001583	missense	84957	0	0					g.chr11:73103471G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.583G>A	chr11.hg19:g.73103471G>A	ENSP00000064780:p.Ala195Thr	0					RELT_ENST00000393580.2_Missense_Mutation_p.A195T	p.A195T	NM_152222.1	NP_689408.1	1	2	3	1.991067	Q969Z4	TR19L_HUMAN		6	844	+			Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	0	1	hg19	c.583G>A	CCDS8222.1	0	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701646	0.15172	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.71461	-0.57;-0.57	5.69	3.84	0.44239	5.69	3.84	0.44239	.	0.245949	0.40302	N	0.001131	T	0.49712	0.1573	N	0.03209	-0.39	0.43673	D	0.996101	P	0.47604	0.898	P	0.51615	0.675	T	0.54957	-0.8215	10	0.02654	T	1	-21.6908	8.3317	0.32191	0.0787:0.0:0.7666:0.1547	.	195	Q969Z4	TR19L_HUMAN	T	195	ENSP00000064780:A195T;ENSP00000377207:A195T	ENSP00000064780:A195T	A	+	1	0	0	RELT	72781119	72781119	0.982000	0.34865	0.105000	0.21289	0.239000	0.25481	2.100000	0.41777	0.779000	0.33543	-0.226000	0.12346	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-8.888568	1	0.170000	NM_032871			7	7		216	213	0		1	0		0	0	40	0		9.801525e-01	3.004324e-01	0	1	0	30	0	7	216
PLEKHB1	58473	broad.mit.edu	37	11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|Y_RNA_ENST00000516923.1_RNA|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	217					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)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354190.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(649-651)Gcc>Acc		pleckstrin homology domain containing, family B (evectins) member 1							35.0	39.0	38.0					11																	73372564		1985	4143	6128	SO:0001583	missense	58473	2	120830	35				g.chr11:73372564G>A	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.649G>A	chr11.hg19:g.73372564G>A	ENSP00000346127:p.Ala217Thr	0		OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	Y_RNA_ENST00000516923.1_RNA|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T	p.A217T	NM_021200.2	NP_067023.1	1	2	3	1.991067	Q9UF11	PKHB1_HUMAN		8	1080	+			A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	1	1	hg19	c.649G>A	CCDS44672.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244204	0.59103	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000541597;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.235619	0.43110	D	0.000609	T	0.36524	0.0970	N	0.08118	0	0.30350	N	0.784885	P;D;D	0.65815	0.724;0.976;0.995	B;B;P	0.54312	0.15;0.417;0.748	T	0.34204	-0.9838	9	0.48119	T	0.1	-5.9888	15.1153	0.72397	0.0:0.0:1.0:0.0	.	186;182;217	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	T	217;182;163;198;112;133;163;163;170	.	ENSP00000227214:A163T	A	+	1	0	0	PLEKHB1	73050212	73050212	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.200000	0.58433	2.677000	0.91161	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000				81	79		347	344	1		1	1		0	0	70	0		1	9.999776e-01	0	23	0	44	0	81	347
MRPL48	51642	broad.mit.edu	37	11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000310614.7	+	5	951	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000314282.7_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	99						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GACTGCATATGATATGACCCT	0.418																																						ENST00000310614.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(295-297)Gat>Aat		mitochondrial ribosomal protein L48							97.0	90.0	92.0					11																	73555945		1856	4088	5944	SO:0001583	missense	51642	0	0					g.chr11:73555945G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.295G>A	chr11.hg19:g.73555945G>A	ENSP00000308717:p.Asp99Asn	0					MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000398483.3_5'UTR	p.D99N	NM_016055.5	NP_057139.1	1	2	3	1.991067	Q96GC5	RM48_HUMAN		5	951	+			B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	1	1	hg19	c.295G>A	CCDS44676.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808917	0.90707	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.64085	-0.08	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.044994	0.85682	D	0.000000	T	0.73281	0.3567	M	0.72353	2.195	0.58432	D	0.999995	D;D	0.63880	0.993;0.991	P;P	0.61477	0.889;0.831	T	0.74453	-0.3660	10	0.51188	T	0.08	-13.9634	10.4017	0.44233	0.0889:0.0:0.9111:0.0	.	81;99	B4DN34;Q96GC5	.;RM48_HUMAN	N	99;81	ENSP00000308717:D99N	ENSP00000308717:D99N	D	+	1	0	0	MRPL48	73233593	73233593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.600000	0.87896	0.591000	0.81541	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_016055			56	55		217	214	1		1	1		0	0	56	0		1	9.999994e-01	0	31	0	55	0	56	217
MRPL48	51642	broad.mit.edu	37	11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	rs137907774	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000310614.7	+	6	1119	c.463C>T	c.(463-465)Cga>Tga	p.R155*	MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155						mitochondrial ribosome (GO:0005761)				kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438																																						ENST00000310614.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				1						c.(463-465)Cga>Tga		mitochondrial ribosomal protein L48							59.0	57.0	58.0					11																	73571043		1899	4126	6025	SO:0001587	stop_gained	51642	0	0					g.chr11:73571043C>T	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.463C>T	chr11.hg19:g.73571043C>T	ENSP00000308717:p.Arg155*	0					MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*	p.R155*	NM_016055.5	NP_057139.1	1	2	3	1.991067	Q96GC5	RM48_HUMAN		6	1119	+			B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Nonsense_Mutation	SNP	ENST00000310614.7	0	1	hg19	c.463C>T	CCDS44676.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.561256	0.98863	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000314282	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0739	12.9338	0.58303	0.1619:0.8381:0.0:0.0	rs11547693	.	.	.	X	155;137;56;56;56	.	ENSP00000308717:R155X	R	+	1	2	2	MRPL48	73248691	73248691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	2.937000	0.99478	0.650000	0.86243	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_016055			23	23		107	105	1		1	1		0	0	38	0		9.999996e-01	9.999963e-01	0	4	0	100	0	23	107
MRPL48	51642	broad.mit.edu	37	11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000310614.7	+	8	1246	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197						mitochondrial ribosome (GO:0005761)				kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433																																						ENST00000310614.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999688	0.990000	1.000000																										0				1						c.(589-591)cGa>cAa		mitochondrial ribosomal protein L48							67.0	61.0	63.0					11																	73575366		1868	4112	5980	SO:0001583	missense	51642	0	0					g.chr11:73575366G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.590G>A	chr11.hg19:g.73575366G>A	ENSP00000308717:p.Arg197Gln	0					MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q	p.R197Q	NM_016055.5	NP_057139.1	1	2	3	1.991067	Q96GC5	RM48_HUMAN		8	1246	+			B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	1	1	hg19	c.590G>A	CCDS44676.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.521329	0.96416	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.64618	0.05;-0.11	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82768	-0.0294	10	0.72032	D	0.01	-38.8651	18.0523	0.89353	0.0:0.0:1.0:0.0	.	179;197	B4DN34;Q96GC5	.;RM48_HUMAN	Q	197;179;98;98;106;98	ENSP00000308717:R197Q;ENSP00000443685:R106Q	ENSP00000308717:R197Q	R	+	2	0	0	MRPL48	73253014	73253014	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.613000	0.82986	2.937000	0.99478	0.650000	0.86243	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.290879	1	0.170000	NM_016055			20	20		105	104	1		1	1		0	0	27	0		9.999972e-01	9.999913e-01	0	10	0	101	0	20	105
PAAF1	80227	broad.mit.edu	37	11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000310571.3	+	10	1030	c.977T>C	c.(976-978)cTa>cCa	p.L326P	PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000544909.1_Missense_Mutation_p.L327P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	326					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428																																						ENST00000310571.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(976-978)cTa>cCa		proteasomal ATPase-associated factor 1							130.0	120.0	123.0					11																	73630036		2200	4293	6493	SO:0001583	missense	80227	0	0					g.chr11:73630036T>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.977T>C	chr11.hg19:g.73630036T>C	ENSP00000311665:p.Leu326Pro	0					PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000544909.1_Missense_Mutation_p.L327P	p.L326P	NM_025155.2	NP_079431.1	1	2	3	1.991067	Q9BRP4	PAAF1_HUMAN		10	1030	+	Breast(11;7.42e-05)		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	1	1	hg19	c.977T>C	CCDS8226.1	1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184042	0.57800	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.292711	0.23265	N	0.050091	T	0.37100	0.0991	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.971;0.994	P;P	0.55713	0.753;0.782	T	0.11567	-1.0582	10	0.36615	T	0.2	-3.0581	13.0093	0.58722	0.0:0.0:0.0:1.0	.	309;326	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	P	211;326;211;309;309;309;327	ENSP00000441333:L211P;ENSP00000311665:L326P;ENSP00000438789:L211P;ENSP00000438124:L309P;ENSP00000441494:L309P;ENSP00000365564:L309P;ENSP00000438071:L327P	ENSP00000311665:L326P	L	+	2	0	0	PAAF1	73307684	73307684	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	3.498000	0.53302	1.949000	0.56562	0.533000	0.62120	CTA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_025155			44	43		157	153	1		1	1		0	0	71	0		1	9.999998e-01	0	13	0	77	0	44	157
UCP3	7352	broad.mit.edu	37	11	73712499	73712499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000348534.4_Silent_p.R197R|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	299	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453																																						ENST00000314032.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(895-897)cgG>cgA		uncoupling protein 3 (mitochondrial, proton carrier)							153.0	118.0	130.0					11																	73712499		2200	4293	6493	SO:0001819	synonymous_variant	7352	0	0					g.chr11:73712499C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.897G>A	chr11.hg19:g.73712499C>T		0					UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Silent_p.R197R	p.R299R	NM_003356.3	NP_003347.1	1	2	3	1.991067	P55916	UCP3_HUMAN		7	1449	-	Breast(11;2.08e-05)		O60475|Q96HL3	Silent	SNP	ENST00000314032.4	1	1	hg19	c.897G>A	CCDS8229.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_003356			48	48		251	244	1		1	0		0	0	67	0		1	2.677420e-02	0	0	0	2	0	48	251
UCP3	7352	broad.mit.edu	37	11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	244					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592																																						ENST00000314032.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(730-732)Cgg>Tgg		uncoupling protein 3 (mitochondrial, proton carrier)							63.0	64.0	64.0					11																	73714966		2200	4293	6493	SO:0001583	missense	7352	6	121412	39				g.chr11:73714966G>A	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.730C>T	chr11.hg19:g.73714966G>A	ENSP00000323740:p.Arg244Trp	0					UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000426995.2_Missense_Mutation_p.R244W	p.R244W	NM_003356.3	NP_003347.1	1	2	3	1.991067	P55916	UCP3_HUMAN		6	1282	-	Breast(11;2.08e-05)		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	1	1	hg19	c.730C>T	CCDS8229.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.379920	0.95945	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.84589	-1.82;-1.87;-1.82	5.07	5.07	0.68467	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	-0.9863	18.4155	0.90568	0.0:0.0:1.0:0.0	.	244	P55916	UCP3_HUMAN	W	244;142;244	ENSP00000323740:R244W;ENSP00000343615:R142W;ENSP00000392143:R244W	ENSP00000323740:R244W	R	-	1	2	2	UCP3	73392614	73392614	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.504000	0.60414	2.528000	0.85240	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-2.874273	1	0.170000	NM_003356			88	89		382	375	1		1	0		0	0	86	0		1	0	0	0	0	1	0	88	382
C2CD3	26005	broad.mit.edu	37	11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000334126.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1679	C2 2.				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)				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)					AACCACTTGGGTGTATACAGG	0.443																																						ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(5035-5037)aCc>aAc		C2 calcium-dependent domain containing 3							120.0	118.0	118.0					11																	73768505		2200	4293	6493	SO:0001583	missense	26005	0	0					g.chr11:73768505G>T	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.5036C>A	chr11.hg19:g.73768505G>T	ENSP00000334379:p.Thr1679Asn	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N	p.T1679N			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		25	5262	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.5036C>A		1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364919	0.82463	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.74632	-0.86;-0.86;-0.86	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.050138	0.85682	D	0.000000	D	0.82365	0.5021	M	0.63843	1.955	0.46131	D	0.998889	P	0.52463	0.953	P	0.56434	0.798	D	0.84574	0.0657	10	0.87932	D	0	-9.0877	18.3221	0.90242	0.0:0.0:1.0:0.0	.	1679	Q4AC94-1	.	N	1679;1679;1660;487	ENSP00000334379:T1679N;ENSP00000323339:T1679N;ENSP00000388750:T487N	ENSP00000323339:T1679N	T	-	2	0	0	C2CD3	73446153	73446153	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.053000	0.89449	2.505000	0.84491	0.650000	0.86243	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-20.000000	1	0.170000	NM_015531			98	97		481	477	1		1	1		0	0	134	0		1	9.471954e-01	0	6	0	20	0	98	481
C2CD3	26005	broad.mit.edu	37	11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000334126.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1450					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)				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)					CTTCTTGAGAGGGGTCCAAAA	0.453																																						ENST00000334126.7	1.000000	0.330000	6.800000e-01	4.200000e-01	0.530000	0.560444	0.530000	0.520000																										0				64						c.(4348-4350)cCt>cAt		C2 calcium-dependent domain containing 3							85.0	80.0	82.0					11																	73789414		2200	4293	6493	SO:0001583	missense	26005	0	0					g.chr11:73789414G>T	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.4349C>A	chr11.hg19:g.73789414G>T	ENSP00000334379:p.Pro1450His	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H	p.P1450H			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		23	4575	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.4349C>A		0	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355783	0.61293	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89875	-2.58;-2.58;-2.58	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.393546	0.28203	N	0.016218	D	0.91442	0.7299	L	0.42245	1.32	0.31271	N	0.691796	D	0.89917	1.0	D	0.72338	0.977	D	0.90329	0.4350	10	0.51188	T	0.08	-8.1999	13.3976	0.60863	0.0776:0.0:0.9224:0.0	.	1450	Q4AC94-1	.	H	1450;1450;1431;258	ENSP00000334379:P1450H;ENSP00000323339:P1450H;ENSP00000388750:P258H	ENSP00000323339:P1450H	P	-	2	0	0	C2CD3	73467062	73467062	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.187000	0.42602	2.502000	0.84385	0.650000	0.86243	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-2.620552	1	0.170000	NM_015531			20	19		430	422	0		1	0		0	0	74	0		9.999945e-01	2.555410e-01	0	1	0	20	0	20	430
C2CD3	26005	broad.mit.edu	37	11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000334126.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1169	C2 1.				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)				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)					TGATGACTGGTTCCTCAATTC	0.398																																						ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3505-3507)aAc>aGc		C2 calcium-dependent domain containing 3							126.0	121.0	123.0					11																	73803472		2200	4293	6493	SO:0001583	missense	26005	6	121412	39				g.chr11:73803472T>C	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.3506A>G	chr11.hg19:g.73803472T>C	ENSP00000334379:p.Asn1169Ser	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S	p.N1169S			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		19	3732	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.3506A>G		1	.	.	.	.	.	.	.	.	.	.	T	1.677	-0.507468	0.04231	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.4	1.74	0.24563	5.4	1.74	0.24563	.	0.660446	0.16439	N	0.214374	T	0.02012	0.0063	N	0.02011	-0.69	0.24298	N	0.995133	B	0.02656	0.0	B	0.04013	0.001	T	0.43163	-0.9408	10	0.06365	T	0.9	-7.8523	1.3094	0.02094	0.123:0.1822:0.2526:0.4423	.	1169	Q4AC94-1	.	S	1169	ENSP00000334379:N1169S;ENSP00000323339:N1169S	ENSP00000323339:N1169S	N	-	2	0	0	C2CD3	73481120	73481120	0.998000	0.40836	0.954000	0.39281	0.890000	0.51754	0.780000	0.26760	0.333000	0.23563	0.363000	0.22086	AAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_015531			130	129		466	452	1		1	1		0	0	79	0		1	9.727553e-01	0	4	0	19	0	130	466
C2CD3	26005	broad.mit.edu	37	11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000334126.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948					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)				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)					TAAAAAGACTCGAAGACTCCC	0.468																																						ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2842-2844)cGa>cAa		C2 calcium-dependent domain containing 3							96.0	101.0	100.0					11																	73809190		2200	4293	6493	SO:0001583	missense	26005	3	121412	39				g.chr11:73809190C>T	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.2843G>A	chr11.hg19:g.73809190C>T	ENSP00000334379:p.Arg948Gln	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q	p.R948Q			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		16	3069	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.2843G>A		1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808921	0.90707	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.055819	0.64402	D	0.000002	T	0.51517	0.1679	L	0.37630	1.12	0.37872	D	0.930098	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.59425	D	0.04	-9.4236	9.4907	0.38958	0.0:0.7798:0.1446:0.0755	.	948	Q4AC94-1	.	Q	948	ENSP00000334379:R948Q;ENSP00000323339:R948Q	ENSP00000323339:R948Q	R	-	2	0	0	C2CD3	73486838	73486838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.794000	0.96219	0.650000	0.86243	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.079155	1	0.170000	NM_015531			75	73		405	398	1		1	1		0	0	99	0		1	8.601093e-01	0	5	0	16	0	75	405
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	C	T	rs147082398	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000334126.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784					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)				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)					GGGAGGCTGGCGTAGCTACGA	0.458													C|||	15	0.00299521	0.0	0.0	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0153					ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2350-2352)acG>acA		C2 calcium-dependent domain containing 3		C		0,4400		0,0,2200	185.0	162.0	170.0		2352	3.0	0.5	11	dbSNP_134	170	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	C2CD3	NM_015531.4		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		784/1964	73814404	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	26005	268	121412	56				g.chr11:73814404C>T	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.2352G>A	chr11.hg19:g.73814404C>T		0					C2CD3_ENST00000313663.7_Silent_p.T784T	p.T784T			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		14	2578	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	1	1	hg19	c.2352G>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-3.995781	1	0.170000	NM_015531			94	92		414	409	1		1	1		0	0	74	0		1	8.233596e-01	0	5	0	11	0	94	414
C2CD3	26005	broad.mit.edu	37	11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000334126.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	761					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)				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)					GCACCAAGTTCTGTGCTTTCT	0.438																																						ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2281-2283)caG>caT		C2 calcium-dependent domain containing 3							206.0	207.0	207.0					11																	73814473		2200	4293	6493	SO:0001583	missense	26005	0	0					g.chr11:73814473C>A	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.2283G>T	chr11.hg19:g.73814473C>A	ENSP00000334379:p.Gln761His	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H	p.Q761H			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		14	2509	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.2283G>T		1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077006	0.36662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11169	2.8;2.83	5.81	2.59	0.31030	5.81	2.59	0.31030	.	0.837535	0.11047	N	0.605427	T	0.24470	0.0593	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.07731	-1.0757	10	0.66056	D	0.02	-0.3047	5.2091	0.15307	0.0:0.5886:0.1741:0.2374	.	761	Q4AC94-1	.	H	761	ENSP00000334379:Q761H;ENSP00000323339:Q761H	ENSP00000323339:Q761H	Q	-	3	2	2	C2CD3	73492121	73492121	0.981000	0.34729	0.078000	0.20375	0.089000	0.18198	1.026000	0.30103	1.457000	0.47850	0.650000	0.86243	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_015531			77	76		373	365	1		1	1		0	0	63	0		1	9.314642e-01	0	9	0	15	0	77	373
C2CD3	26005	broad.mit.edu	37	11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000334126.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	239					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)				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)					AGCATACATGGTCTTTTCCCC	0.363																																						ENST00000334126.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				64						c.(715-717)gaC>gaA		C2 calcium-dependent domain containing 3							63.0	61.0	62.0					11																	73850003		2200	4293	6493	SO:0001583	missense	26005	0	0					g.chr11:73850003G>T	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.717C>A	chr11.hg19:g.73850003G>T	ENSP00000334379:p.Asp239Glu	0					C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E	p.D239E			1	2	3	1.991067	Q4AC94	C2CD3_HUMAN		5	943	-	Breast(11;4.16e-06)		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	1	1	hg19	c.717C>A		1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422539	0.43020	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11169	2.8;2.86	5.84	4.93	0.64822	5.84	4.93	0.64822	.	0.054285	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76002	2.32	0.31437	N	0.67244	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.17715	-1.0360	10	0.59425	D	0.04	-14.0972	11.5079	0.50476	0.0835:0.0:0.9165:0.0	.	239;239	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	239	ENSP00000334379:D239E;ENSP00000323339:D239E	ENSP00000289350:D239E	D	-	3	2	2	C2CD3	73527651	73527651	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.400000	0.44504	2.771000	0.95319	0.655000	0.94253	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.795690	1	0.170000	NM_015531			35	35		167	165	1		1	1		0	0	36	0		1	9.407455e-01	0	3	0	22	0	35	167
P4HA3	283208	broad.mit.edu	37	11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	481	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			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)					CTGAGGTTGGCATAGATGAAG	0.582																																						ENST00000331597.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.998159	0.990000	1.000000																										0				15						c.(1441-1443)Gcc>Acc		prolyl 4-hydroxylase, alpha polypeptide III							102.0	84.0	90.0					11																	73980723		2200	4293	6493	SO:0001583	missense	283208	0	0					g.chr11:73980723C>T	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.1441G>A	chr11.hg19:g.73980723C>T	ENSP00000332170:p.Ala481Thr	0					P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	p.A481T	NM_182904.3	NP_878907.1	1	2	3	1.991067	Q7Z4N8	P4HA3_HUMAN		11	1486	-	Breast(11;2.31e-05)		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	1	1	hg19	c.1441G>A	CCDS8230.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693484	0.48202	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.59083	1.59;0.29	5.25	4.33	0.51752	5.25	4.33	0.51752	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.096594	0.64402	D	0.000001	T	0.70369	0.3216	M	0.63169	1.94	0.44728	D	0.997721	D;B	0.69078	0.997;0.136	D;B	0.65323	0.934;0.142	T	0.72883	-0.4157	10	0.54805	T	0.06	-8.3059	13.6279	0.62178	0.0:0.8435:0.1565:0.0	.	481;481	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	T	481	ENSP00000332170:A481T;ENSP00000401749:A481T	ENSP00000332170:A481T	A	-	1	0	0	P4HA3	73658371	73658371	1.000000	0.71417	0.993000	0.49108	0.410000	0.31052	4.766000	0.62279	1.445000	0.47624	-0.175000	0.13238	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	1	0	1		2	2	2	0		0	0	71		71	68	1	2.060000	-20.000000	1	0.170000	NM_182904			38	38		294	289	1		1	0		0	0	71	0		1	7.576673e-01	0	0	0	23	0	38	294
PGM2L1	283209	broad.mit.edu	37	11	74049647	74049647	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1						glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			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)					CAGGCAGCACCTATGCAAAAT	0.343																																						ENST00000298198.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.e13-1		phosphoglucomutase 2-like 1							101.0	90.0	94.0					11																	74049647		2200	4293	6493	SO:0001630	splice_region_variant	283209	0	0					g.chr11:74049647C>A	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.1633-1G>T	chr11.hg19:g.74049647C>A		0							NM_173582.3	NP_775853.2	1	2	3	1.991067	Q6PCE3	PGM2L_HUMAN		13	1944	-	Breast(11;3.32e-06)		Q96MQ7|Q9UIK3	Splice_Site	SNP	ENST00000298198.4	1	1	hg19		CCDS8231.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403256	0.62288	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.5	4.59	0.56863	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4863	0.55874	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	.	PGM2L1	73727295	73727295	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.484000	0.81180	1.460000	0.47911	0.563000	0.77884	.	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-2.810068	1	0.170000	NM_173582	Intron		61	59		341	333	1		1			0	0	97	0		1	0	0	0	0	0	0	61	341
PGM2L1	283209	broad.mit.edu	37	11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	430					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)			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)					AAATGCAAAAAGGACTTCTTT	0.318																																						ENST00000298198.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1288-1290)cTt>cCt		phosphoglucomutase 2-like 1							65.0	66.0	66.0					11																	74054391		2200	4292	6492	SO:0001583	missense	283209	0	0					g.chr11:74054391A>G	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.1289T>C	chr11.hg19:g.74054391A>G	ENSP00000298198:p.Leu430Pro	0						p.L430P	NM_173582.3	NP_775853.2	1	2	3	1.991067	Q6PCE3	PGM2L_HUMAN		10	1600	-	Breast(11;3.32e-06)		Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	1	1	hg19	c.1289T>C	CCDS8231.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064889	0.76187	.	.	ENSG00000165434	ENST00000298198	T	0.47177	0.85	5.92	5.92	0.95590	5.92	5.92	0.95590	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.225935	0.37955	N	0.001868	T	0.65428	0.2690	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.65734	-0.6096	10	0.48119	T	0.1	-21.5015	14.3046	0.66377	1.0:0.0:0.0:0.0	.	430	Q6PCE3	PGM2L_HUMAN	P	430	ENSP00000298198:L430P	ENSP00000298198:L430P	L	-	2	0	0	PGM2L1	73732039	73732039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.255000	0.74692	0.533000	0.62120	CTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_173582			67	66		280	271	1		1	1		0	0	54	0		1	9.578955e-01	0	9	0	15	0	67	280
CHRDL2	25884	broad.mit.edu	37	11	74417568	74417568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000263671.5_Silent_p.S182S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	182					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602																																						ENST00000376332.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(544-546)tcG>tcA		chordin-like 2							171.0	132.0	145.0					11																	74417568		2200	4293	6493	SO:0001819	synonymous_variant	25884	3	121412	36				g.chr11:74417568C>T	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.546G>A	chr11.hg19:g.74417568C>T		0					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	p.S182S	NM_001278473.1	NP_001265402.1	1	2	3	1.991067	Q6WN34	CRDL2_HUMAN		6	1042	-	Hepatocellular(1;0.098)		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	1	1	hg19	c.546G>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.970607	1	0.170000				59	55		328	319	1		1	0		0	0	90	0		1	0	0	0	0	1	0	59	328
CHRDL2	25884	broad.mit.edu	37	11	74424519	74424519	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000263671.5_Silent_p.A67A|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	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)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577																																						ENST00000376332.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(199-201)gcC>gcA		chordin-like 2							91.0	83.0	86.0					11																	74424519		2200	4293	6493	SO:0001819	synonymous_variant	25884	0	0					g.chr11:74424519G>T	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.201C>A	chr11.hg19:g.74424519G>T		0					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	p.A67A	NM_001278473.1	NP_001265402.1	1	2	3	1.991067	Q6WN34	CRDL2_HUMAN		3	697	-	Hepatocellular(1;0.098)		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	1	1	hg19	c.201C>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				47	47		194	192	1		1			0	0	48	0		1	0	0	0	0	0	0	47	194
RNF169	254225	broad.mit.edu	37	11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	298					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478																																						ENST00000299563.4	1.000000	0.510000	1	6.800000e-01	0.890000	0.861456	0.890000	1.000000																										0				15						c.(892-894)caG>caT		ring finger protein 169							90.0	96.0	94.0					11																	74545772		2031	4204	6235	SO:0001583	missense	254225	0	0					g.chr11:74545772G>T	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.894G>T	chr11.hg19:g.74545772G>T	ENSP00000299563:p.Gln298His	0						p.Q298H	NM_001098638.1	NP_001092108.1	1	2	3	1.991067	Q8NCN4	RN169_HUMAN		5	907	+			Q6N015	Missense_Mutation	SNP	ENST00000299563.4	1	1	hg19	c.894G>T	CCDS41691.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636237	0.67130	.	.	ENSG00000166439	ENST00000299563	T	0.50001	0.76	5.86	-0.421	0.12332	5.86	-0.421	0.12332	.	0.363893	0.35040	N	0.003491	T	0.58736	0.2143	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.56498	-0.7969	10	0.66056	D	0.02	-2.5919	5.2435	0.15485	0.454:0.0:0.4111:0.1349	.	298	Q8NCN4	RN169_HUMAN	H	298	ENSP00000299563:Q298H	ENSP00000299563:Q298H	Q	+	3	2	2	RNF169	74223420	74223420	0.994000	0.37717	0.989000	0.46669	0.965000	0.64279	0.144000	0.16135	-0.030000	0.13804	-0.145000	0.13849	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.841953	1	0.170000	XM_495886			14	14		174	170	1		1	1		0	0	61	0		9.997560e-01	8.169692e-01	0	9	0	32	0	14	174
XRRA1	143570	broad.mit.edu	37	11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A	rs199618264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21381	0.0		0.0	False		,,,				2504	0.0					ENST00000340360.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				20						c.(1093-1095)aCg>aTg		X-ray radiation resistance associated 1							64.0	66.0	65.0					11																	74570255		1902	4115	6017	SO:0001583	missense	143570	11	120834	36				g.chr11:74570255G>A	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.1094C>T	chr11.hg19:g.74570255G>A	ENSP00000339918:p.Thr365Met	0					XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	p.T365M	NM_182969.2	NP_892014.1	1	2	3	1.991067				12	1425	-				Missense_Mutation	SNP	ENST00000340360.6	1	1	hg19	c.1094C>T	CCDS44680.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.362635	0.82353	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.53423	0.62	6.07	4.06	0.47325	6.07	4.06	0.47325	.	.	.	.	.	T	0.55210	0.1906	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.55315	-0.8160	9	0.48119	T	0.1	-10.3559	9.074	0.36511	0.0:0.161:0.6719:0.167	.	365	Q6P2D8	XRRA1_HUMAN	M	365;351	ENSP00000339918:T365M	ENSP00000339918:T365M	T	-	2	0	0	XRRA1	74247903	74247903	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	1.994000	0.40757	1.529000	0.49120	0.655000	0.94253	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_182969			21	21		61	60	1		1	0		0	0	20	0		9.999991e-01	2.840417e-01	0	0	0	4	0	21	61
XRRA1	143570	broad.mit.edu	37	11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498																																						ENST00000340360.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(925-927)gAt>gTt		X-ray radiation resistance associated 1							124.0	122.0	122.0					11																	74617337		1955	4142	6097	SO:0001583	missense	143570	0	0					g.chr11:74617337T>A	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.926A>T	chr11.hg19:g.74617337T>A	ENSP00000339918:p.Asp309Val	0					XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	p.D309V	NM_182969.2	NP_892014.1	1	2	3	1.991067				10	1257	-				Missense_Mutation	SNP	ENST00000340360.6	1	1	hg19	c.926A>T	CCDS44680.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105787	0.77096	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51817	0.69;1.45;0.71	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.671525	0.14183	N	0.335896	T	0.47820	0.1466	L	0.53249	1.67	0.31762	N	0.633189	P;P;P;P	0.50617	0.8;0.514;0.852;0.937	B;B;B;P	0.44394	0.143;0.284;0.354;0.448	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.0607	12.1158	0.53863	0.0:0.0:0.0:1.0	.	309;76;309;309	Q6P2D8;E9PL06;Q6P2D8-2;Q6P2D8-4	XRRA1_HUMAN;.;.;.	V	309;76;309;309;309	ENSP00000339918:D309V;ENSP00000319303:D76V;ENSP00000435838:D309V	ENSP00000319303:D76V	D	-	2	0	0	XRRA1	74294985	74294985	0.093000	0.21703	0.090000	0.20809	0.234000	0.25298	3.565000	0.53798	2.125000	0.65367	0.533000	0.62120	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_182969			45	45		218	213	1		1	1		0	0	52	0		1	9.743767e-01	0	3	0	28	0	45	218
SLCO2B1	11309	broad.mit.edu	37	11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	636					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)			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)	TGTGGGCGTCGAGCTGTCTGT	0.607																																						ENST00000289575.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1906-1908)cGa>cAa		solute carrier organic anion transporter family, member 2B1	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)						171.0	140.0	150.0					11																	74914430		2200	4293	6493	SO:0001583	missense	11309	0	0					g.chr11:74914430G>A	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.1907G>A	chr11.hg19:g.74914430G>A	ENSP00000289575:p.Arg636Gln	0					SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q	p.R636Q	NM_007256.4	NP_009187	1	2	3	1.991067	O94956	SO2B1_HUMAN		13	2302	+			A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	1	1	hg19	c.1907G>A	CCDS8235.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364276	0.41902	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.24	1.2	0.21068	5.24	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);	0.526977	0.19505	N	0.112643	T	0.18467	0.0443	N	0.11154	0.105	0.09310	N	0.999998	B;B;B	0.23249	0.082;0.066;0.046	B;B;B	0.15484	0.013;0.011;0.013	T	0.23726	-1.0180	10	0.13108	T	0.6	.	7.8034	0.29187	0.3524:0.0:0.6476:0.0	.	492;409;636	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Q	636;409;520;492;409;614	ENSP00000289575:R636Q;ENSP00000341286:R409Q;ENSP00000434112:R520Q;ENSP00000436324:R492Q;ENSP00000389653:R409Q;ENSP00000388912:R614Q	ENSP00000289575:R636Q	R	+	2	0	0	SLCO2B1	74592078	74592078	0.026000	0.19158	0.279000	0.24732	0.897000	0.52465	0.461000	0.21940	0.216000	0.20781	0.650000	0.86243	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.101332	1	0.170000	NM_007256			119	119		559	548	1		1	1		0	0	131	0		1	1	0	36	0	325	0	119	559
ARRB1	408	broad.mit.edu	37	11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2. {ECO:0000250}.|Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|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 protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642																																						ENST00000420843.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(226-228)cGc>cAc		arrestin, beta 1		C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	75.0	66.0	69.0		227,227	4.5	1.0	11	dbSNP_134	69	1,8585	1.2+/-3.3	0,1,4292	yes	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	76/419,76/411	74994458	1,12985	2200	4293	6493	SO:0001583	missense	408	12	121412	40				g.chr11:74994458C>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.227G>A	chr11.hg19:g.74994458C>T	ENSP00000409581:p.Arg76His	0					ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	p.R76H	NM_004041.4	NP_004032.2	1	2	3	1.991067	P49407	ARRB1_HUMAN		5	324	-			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	1	1	hg19	c.227G>A	CCDS44684.1	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632928	0.67015	0.0	1.16E-4	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.46	4.46	0.54185	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.89968	3.075	0.80722	D	1	P;P	0.51791	0.75;0.948	B;B	0.41571	0.086;0.36	T	0.61182	-0.7114	10	0.62326	D	0.03	-6.2033	14.647	0.68767	0.0:1.0:0.0:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	H	76;76;76;71	ENSP00000409581:R76H;ENSP00000377141:R76H;ENSP00000353124:R76H;ENSP00000433171:R71H	ENSP00000353124:R76H	R	-	2	0	0	ARRB1	74672106	74672106	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.320000	0.79064	2.299000	0.77371	0.561000	0.74099	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_004041			49	47		243	238	1		1	1		0	0	60	0		1	9.998732e-01	0	13	0	56	0	49	243
GDPD5	81544	broad.mit.edu	37	11	75153439	75153439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	ENST00000336898.3	-	12	1973	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000526177.1_Missense_Mutation_p.A241D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	379	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGCAGCACGGCCTCCAGAGT	0.672																																						ENST00000336898.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999660	0.990000	1.000000																										0				20						c.(1135-1137)gCc>gAc		glycerophosphodiester phosphodiesterase domain containing 5							23.0	22.0	22.0					11																	75153439		2188	4287	6475	SO:0001583	missense	81544	0	0					g.chr11:75153439G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1136C>A	chr11.hg19:g.75153439G>T	ENSP00000337972:p.Ala379Asp	0					GDPD5_ENST00000526177.1_Missense_Mutation_p.A241D|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D	p.A379D	NM_030792.6	NP_110419.5	1	2	3	1.991067	Q8WTR4	GDPD5_HUMAN		12	1973	-			Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	0	1	hg19	c.1136C>A	CCDS8238.1	1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.278002	0.59758	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.37	5.37	0.77165	5.37	5.37	0.77165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.285067	0.39083	N	0.001475	T	0.22475	0.0542	L	0.36672	1.1	0.80722	D	1	D;P	0.55800	0.973;0.549	P;B	0.54100	0.742;0.194	T	0.00326	-1.1815	10	0.66056	D	0.02	-21.6643	16.6226	0.84934	0.0:0.0:1.0:0.0	.	260;379	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	D	241;260;379;379;134;260	ENSP00000434050:A241D;ENSP00000437049:A260D;ENSP00000433214:A379D;ENSP00000337972:A379D;ENSP00000435196:A134D;ENSP00000365459:A260D	ENSP00000337972:A379D	A	-	2	0	0	GDPD5	74831087	74831087	0.695000	0.27747	0.953000	0.39169	0.864000	0.49448	3.667000	0.54547	2.522000	0.85027	0.450000	0.29827	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-19.999970	1	0.170000	NM_030792			12	12		40	39	0		1	1		0	0	8	0		9.994301e-01	9.975688e-01	0	16	0	24	0	12	40
GDPD5	81544	broad.mit.edu	37	11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000336898.3	-	12	1870	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000526177.1_Missense_Mutation_p.L207I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	345	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632																																						ENST00000336898.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				20						c.(1033-1035)Ctc>Atc		glycerophosphodiester phosphodiesterase domain containing 5							47.0	44.0	45.0					11																	75153542		2200	4293	6493	SO:0001583	missense	81544	0	0					g.chr11:75153542G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1033C>A	chr11.hg19:g.75153542G>T	ENSP00000337972:p.Leu345Ile	0					GDPD5_ENST00000526177.1_Missense_Mutation_p.L207I|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I	p.L345I	NM_030792.6	NP_110419.5	1	2	3	1.991067	Q8WTR4	GDPD5_HUMAN		12	1870	-			Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	1	1	hg19	c.1033C>A	CCDS8238.1	1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.912522	0.92178	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.34	5.34	0.76211	5.34	5.34	0.76211	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.304858	0.31554	N	0.007460	T	0.24314	0.0589	L	0.41961	1.31	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.54664	0.758;0.755	T	0.00247	-1.1881	10	0.51188	T	0.08	-34.0308	16.549	0.84458	0.0:0.0:1.0:0.0	.	226;345	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	I	207;226;345;345;100;226	ENSP00000434050:L207I;ENSP00000437049:L226I;ENSP00000433214:L345I;ENSP00000337972:L345I;ENSP00000435196:L100I;ENSP00000365459:L226I	ENSP00000337972:L345I	L	-	1	0	0	GDPD5	74831190	74831190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	2.498000	0.84270	0.450000	0.29827	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_030792			32	32		166	163	1		1	1		0	0	47	0		1	9.758595e-01	0	7	0	27	0	32	166
MAP6	4135	broad.mit.edu	37	11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000304771.3	-	3	2060	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000434603.2_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	437					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)				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)					TTACTCTTTCGCCTCAGCCAG	0.468																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1309-1311)gCg>gTg		microtubule-associated protein 6							154.0	127.0	136.0					11																	75316859		2200	4293	6493	SO:0001583	missense	4135	1	121412	35				g.chr11:75316859G>A	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.1310C>T	chr11.hg19:g.75316859G>A	ENSP00000307093:p.Ala437Val	0					MAP6_ENST00000434603.2_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	p.A437V	NM_033063.1	NP_149052.1	1	2	3	1.991067	Q96JE9	MAP6_HUMAN		3	2060	-	Ovarian(111;0.11)		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	1	1	hg19	c.1310C>T	CCDS31641.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.265520	0.95399	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.72051	-0.62;-0.02	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000227	D	0.83658	0.5302	M	0.70275	2.135	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.83901	0.0290	10	0.52906	T	0.07	-18.7907	18.0851	0.89455	0.0:0.0:1.0:0.0	.	437	Q96JE9	MAP6_HUMAN	V	437;108;108;437	ENSP00000307093:A437V;ENSP00000415108:A437V	ENSP00000307093:A437V	A	-	2	0	0	MAP6	74994507	74994507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-20.000000	1	0.170000	NM_033063			122	118		551	541	1		1	0		0	0	102	0		1	9.853392e-01	0	0	0	32	0	122	551
MOGAT2	80168	broad.mit.edu	37	11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000198801.5	+	6	1002	c.932A>T	c.(931-933)gAg>gTg	p.E311V	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E229V	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	311					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552																																						ENST00000198801.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(931-933)gAg>gTg		monoacylglycerol O-acyltransferase 2							121.0	106.0	111.0					11																	75442258		2200	4293	6493	SO:0001583	missense	80168	0	0					g.chr11:75442258A>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.932A>T	chr11.hg19:g.75442258A>T	ENSP00000198801:p.Glu311Val	0					MOGAT2_ENST00000526712.1_Missense_Mutation_p.E229V	p.E311V	NM_025098.2	NP_079374.2	1	2	3	1.991067	Q3SYC2	MOGT2_HUMAN		6	1002	+	Ovarian(111;0.103)		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	1	1	hg19	c.932A>T	CCDS8240.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064722	0.76187	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	H	0.95574	3.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.64877	0.93	T	0.61178	-0.7115	10	0.44086	T	0.13	-15.3991	15.6572	0.77150	1.0:0.0:0.0:0.0	.	311	Q3SYC2	MOGT2_HUMAN	V	311;229	ENSP00000198801:E311V;ENSP00000436283:E229V	ENSP00000198801:E311V	E	+	2	0	0	MOGAT2	75119906	75119906	0.993000	0.37304	0.402000	0.26371	0.978000	0.69477	3.826000	0.55738	2.371000	0.80710	0.533000	0.62120	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_025098			79	79		337	332	1		1			0	0	110	0		1	0	0	0	0	0	0	79	337
UVRAG	7405	broad.mit.edu	37	11	75599929	75599929	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	163					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACTATGGTGCTCCATTTG	0.353																																						ENST00000356136.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(487-489)ggT>ggC		UV radiation resistance associated							96.0	91.0	92.0					11																	75599929		2200	4293	6493	SO:0001819	synonymous_variant	7405	0	0					g.chr11:75599929T>C	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.489T>C	chr11.hg19:g.75599929T>C		0					UVRAG_ENST00000528420.1_Silent_p.G62G	p.G163G	NM_003369.3	NP_003360.2	1	2	3	1.991067	Q9P2Y5	UVRAG_HUMAN		5	730	+			B3KTC1|O00392	Silent	SNP	ENST00000356136.3	1	1	hg19	c.489T>C	CCDS8241.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-19.931710	1	0.170000	NM_003369			32	32		127	126	1		1	1		0	0	30	0		1	9.999573e-01	0	5	0	62	0	32	127
UVRAG	7405	broad.mit.edu	37	11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000356136.3	+	10	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	324					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTACTCTCTGAGCTTTCCTAC	0.303																																						ENST00000356136.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(970-972)gAg>gGg		UV radiation resistance associated							115.0	112.0	113.0					11																	75718637		2199	4293	6492	SO:0001583	missense	7405	0	0					g.chr11:75718637A>G	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.971A>G	chr11.hg19:g.75718637A>G	ENSP00000348455:p.Glu324Gly	0					UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G	p.E324G	NM_003369.3	NP_003360.2	1	2	3	1.991067	Q9P2Y5	UVRAG_HUMAN		10	1212	+			B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	1	1	hg19	c.971A>G	CCDS8241.1	1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794272	0.90453	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.37411	1.2;1.2	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58951	-0.7545	10	0.72032	D	0.01	-22.5946	15.1937	0.73067	1.0:0.0:0.0:0.0	.	324	Q9P2Y5	UVRAG_HUMAN	G	324;223	ENSP00000348455:E324G;ENSP00000436039:E223G	ENSP00000348455:E324G	E	+	2	0	0	UVRAG	75396285	75396285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.367000	0.80283	0.528000	0.53228	GAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_003369			56	54		305	301	1		1	1		0	0	53	0		1	9.995614e-01	0	14	0	51	0	56	305
UVRAG	7405	broad.mit.edu	37	11	75851896	75851896	+	Silent	SNP	A	A	G	rs143874379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	ENST00000356136.3	+	15	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000538870.1_Silent_p.R69R|UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000531818.1_Silent_p.R141R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	513					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAATGAGAGACTTCAGTACA	0.527																																						ENST00000356136.3	1.000000	0.650000	1	7.800000e-01	0.930000	0.904633	0.930000	1.000000																										0				32						c.(1537-1539)agA>agG		UV radiation resistance associated							95.0	91.0	92.0					11																	75851896		2200	4292	6492	SO:0001819	synonymous_variant	7405	0	0					g.chr11:75851896A>G	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.1539A>G	chr11.hg19:g.75851896A>G		0					UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000538870.1_Silent_p.R69R	p.R513R	NM_003369.3	NP_003360.2	1	2	3	1.991067	Q9P2Y5	UVRAG_HUMAN		15	1780	+			B3KTC1|O00392	Silent	SNP	ENST00000356136.3	1	1	hg19	c.1539A>G	CCDS8241.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_003369			33	31		389	379	0		1	0		0	0	77	0		1	9.665897e-01	0	1	0	66	0	33	389
WNT11	7481	broad.mit.edu	37	11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	74					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627																																						ENST00000322563.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(220-222)cGc>cAc		wingless-type MMTV integration site family, member 11							65.0	65.0	65.0					11																	75907625		2200	4292	6492	SO:0001583	missense	7481	0	0					g.chr11:75907625C>T	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.221G>A	chr11.hg19:g.75907625C>T	ENSP00000325526:p.Arg74His	0					RP11-619A14.2_ENST00000527314.1_RNA	p.R74H	NM_004626.2	NP_004617.2	1	2	3	1.991067	O96014	WNT11_HUMAN		2	345	-			B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	1	1	hg19	c.221G>A	CCDS8242.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118971	0.37436	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76578	-1.03	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.056202	0.64402	D	0.000001	T	0.70996	0.3288	L	0.45698	1.435	0.58432	D	0.999998	B	0.18863	0.031	B	0.18561	0.022	T	0.70048	-0.4979	10	0.72032	D	0.01	.	10.986	0.47523	0.0:0.9146:0.0:0.0854	.	74	O96014	WNT11_HUMAN	H	74	ENSP00000325526:R74H	ENSP00000325526:R74H	R	-	2	0	0	WNT11	75585273	75585273	0.999000	0.42202	0.883000	0.34634	0.010000	0.07245	4.081000	0.57627	2.334000	0.79466	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_004626			105	106		451	444	0		1	0		0	0	99	0		1	5.911335e-01	0	0	0	10	0	105	451
PRKRIR	5612	broad.mit.edu	37	11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	387					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383																																						ENST00000260045.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1159-1161)gTt>gGt		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							51.0	49.0	50.0					11																	76063034		2198	4288	6486	SO:0001583	missense	5612	0	0					g.chr11:76063034A>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1160T>G	chr11.hg19:g.76063034A>C	ENSP00000260045:p.Val387Gly	0					PRKRIR_ENST00000531878.1_5'Flank	p.V387G	NM_004705.2	NP_004696.2	1	2	3	1.991067	O43422	P52K_HUMAN		5	1265	-			A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	1	1	hg19	c.1160T>G	CCDS8243.1	1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685370	0.68157	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23754	1.89;1.89	4.78	4.78	0.61160	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.275476	0.41938	D	0.000792	T	0.30262	0.0759	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.45829	0.494	T	0.08764	-1.0706	10	0.59425	D	0.04	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	387	O43422	P52K_HUMAN	G	212;387	ENSP00000436249:V212G;ENSP00000260045:V387G	ENSP00000260045:V387G	V	-	2	0	0	PRKRIR	75740682	75740682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.649000	0.74364	1.956000	0.56807	0.524000	0.50904	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_004705			84	73		326	282	1		1	1		0	0	87	0		1	9.999999e-01	0	21	0	70	0	84	326
PRKRIR	5612	broad.mit.edu	37	11	76063238	76063238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063238C>T	ENST00000260045.3	-	5	1061	c.956G>A	c.(955-957)gGa>gAa	p.G319E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	319					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATATTTAATCCCCACTTCTC	0.383																																						ENST00000260045.3	1.000000	0.260000	5.300000e-01	3.300000e-01	0.420000	0.448700	0.420000	0.410000																										0				25						c.(955-957)gGa>gAa		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							41.0	43.0	42.0					11																	76063238		2138	4178	6316	SO:0001583	missense	5612	0	0					g.chr11:76063238C>T	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.956G>A	chr11.hg19:g.76063238C>T	ENSP00000260045:p.Gly319Glu	0					PRKRIR_ENST00000531878.1_5'Flank	p.G319E	NM_004705.2	NP_004696.2	1	2	3	1.991067	O43422	P52K_HUMAN		5	1061	-			A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	0	1	hg19	c.956G>A	CCDS8243.1	0	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662339	0.67700	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.27256	1.68;1.68	4.78	4.78	0.61160	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.56335	-0.7996	10	0.51188	T	0.08	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	319	O43422	P52K_HUMAN	E	144;319	ENSP00000436249:G144E;ENSP00000260045:G319E	ENSP00000260045:G319E	G	-	2	0	0	PRKRIR	75740886	75740886	1.000000	0.71417	0.945000	0.38365	0.604000	0.37047	5.409000	0.66374	2.416000	0.81992	0.644000	0.83932	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	0	0	1		2	2	2	0		0	0	122		122	183	1	2.060000	-3.465133	1	0.170000	NM_004705			21	14		581	401	0		1	1		0	0	122	0		9.999145e-01	6.240673e-01	0	2	0	57	0	21	581
C11orf30	56946	broad.mit.edu	37	11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000529032.1	+	4	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	116	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)				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						TACTGTAACAGCTAATGCTGT	0.473																																						ENST00000529032.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(346-348)Gct>Act		chromosome 11 open reading frame 30							107.0	104.0	105.0					11																	76169327		2200	4292	6492	SO:0001583	missense	56946	0	0					g.chr11:76169327G>A	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.346G>A	chr11.hg19:g.76169327G>A	ENSP00000432327:p.Ala116Thr	0					C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T	p.A116T			1	2	3	1.991067	Q7Z589	EMSY_HUMAN		4	346	+			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	1	1	hg19	c.346G>A	CCDS8244.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728817	0.89390	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.993;0.993;0.993;0.999;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.91635	0.984;0.984;0.984;0.997;0.999;0.998;0.99;0.998;0.971	T	0.78753	-0.2081	9	0.56958	D	0.05	-9.4108	20.1133	0.97917	0.0:0.0:1.0:0.0	.	130;130;130;116;116;116;116;116;116	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	T	116;116;116;116;130;130;116;130;116	.	ENSP00000334130:A116T	A	+	1	0	0	C11orf30	75846975	75846975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_020193			71	70		336	332	1		1	1		0	0	82	0		1	8.844863e-01	0	4	0	16	0	71	336
C11orf30	56946	broad.mit.edu	37	11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	rs150867470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000529032.1	+	19	3635	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1212					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				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						GAGTCCTGTTCGAGTCCATCC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19348	0.0		0.0	False		,,,				2504	0.0					ENST00000529032.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3634-3636)tCg>tTg		chromosome 11 open reading frame 30		C	LEU/SER	6,4394	11.4+/-27.6	0,6,2194	85.0	87.0	86.0		3635	6.1	1.0	11	dbSNP_134	86	0,8584		0,0,4292	yes	missense	C11orf30	NM_020193.3	145	0,6,6486	TT,TC,CC		0.0,0.1364,0.0462	possibly-damaging	1212/1323	76257202	6,12978	2200	4292	6492	SO:0001583	missense	56946	20	121412	45				g.chr11:76257202C>T	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.3635C>T	chr11.hg19:g.76257202C>T	ENSP00000432327:p.Ser1212Leu	0					C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L	p.S1212L			1	2	3	1.991067	Q7Z589	EMSY_HUMAN		19	3635	+			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	1	1	hg19	c.3635C>T	CCDS8244.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.219679|2.219679	0.39201|0.39201	0.001364|0.001364	0.0|0.0	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.151517	.|0.45867	.|D	.|0.000338	.|T	.|0.51329	.|0.1668	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;B;B;P;B;P	.|0.63880	.|0.993;0.273;0.273;0.828;0.273;0.828	.|P;B;B;B;B;B	.|0.56163	.|0.793;0.041;0.041;0.097;0.041;0.097	.|T	.|0.56153	.|-0.8026	.|9	.|0.72032	.|D	.|0.01	-7.9955|-7.9955	15.3534|15.3534	0.74409|0.74409	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|1121;1213;1227;1213;1114;1212	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	X|L	71|1114;1212;894;1227;1121;1213;1213;1212	.|.	.|ENSP00000334130:S1212L	R|S	+|+	1|2	2|0	2|0	C11orf30|C11orf30	75934850|75934850	75934850|75934850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.003000|4.003000	0.57061|0.57061	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGA|TCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.571885	1	0.170000	NM_020193			82	82		336	332	1		1	1		0	0	109	0		1	9.953819e-01	0	9	0	27	0	82	336
B3GNT6	192134	broad.mit.edu	37	11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H|B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692																																						ENST00000533140.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				8						c.(727-729)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							11.0	15.0	14.0					11																	76751323		2165	4252	6417	SO:0001583	missense	192134	0	0					g.chr11:76751323G>A	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.728G>A	chr11.hg19:g.76751323G>A	ENSP00000435352:p.Arg243His	0					B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H|B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H	p.R243H			1	2	3	1.991067	O43505	B3GN1_HUMAN		2	866	+			Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	1	1	hg19	c.728G>A	CCDS53681.1	1	.	.	.	.	.	.	.	.	.	.	g	2.734	-0.263716	0.05754	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.40756	1.02;1.02;1.02	2.71	0.741	0.18336	2.71	0.741	0.18336	.	1.469590	0.04406	N	0.365184	T	0.30665	0.0772	L	0.31120	0.905	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.18493	-1.0335	10	0.28530	T	0.3	.	5.4637	0.16632	0.3984:0.0:0.6016:0.0	.	243	Q6ZMB0	B3GN6_HUMAN	H	243;243;154	ENSP00000435352:R243H;ENSP00000346256:R243H;ENSP00000403463:R154H	ENSP00000346256:R243H	R	+	2	0	0	B3GNT6	76428971	76428971	0.000000	0.05858	0.203000	0.23512	0.015000	0.08874	0.311000	0.19380	0.190000	0.20209	-0.355000	0.07637	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000	NM_138706			21	19		67	67	0		1			0	0	12	0		9.999989e-01	0	0	0	0	0	0	21	67
CAPN5	726	broad.mit.edu	37	11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000278559.3	+	2	298	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	37	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657																																						ENST00000278559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(109-111)Gac>Aac		calpain 5							28.0	32.0	31.0					11																	76796041		2200	4292	6492	SO:0001583	missense	726	1	121392	36				g.chr11:76796041G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.109G>A	chr11.hg19:g.76796041G>A	ENSP00000278559:p.Asp37Asn	0					CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N	p.D37N	NM_004055.4	NP_004046.2	1	2	3	1.991067	O15484	CAN5_HUMAN		2	298	+			O00263	Missense_Mutation	SNP	ENST00000278559.3	1	1	hg19	c.109G>A	CCDS8248.1	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812369	0.50527	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.18	5.18	0.71444	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.173178	0.48767	D	0.000164	T	0.23766	0.0575	L	0.52126	1.63	0.58432	D	0.999998	D;B;B;D	0.54601	0.967;0.283;0.269;0.967	P;B;B;P	0.46940	0.532;0.03;0.067;0.454	T	0.00981	-1.1492	10	0.54805	T	0.06	.	16.1934	0.82006	0.0:0.0:1.0:0.0	.	75;37;77;37	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	37;37;77;37;37;37	ENSP00000278559:D37N;ENSP00000435894:D37N;ENSP00000432332:D37N;ENSP00000409996:D37N	ENSP00000278559:D37N	D	+	1	0	0	CAPN5	76473689	76473689	1.000000	0.71417	0.962000	0.40283	0.023000	0.10783	3.769000	0.55303	2.415000	0.81967	0.655000	0.94253	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	1	0	1		2	2	2	0		0	0	45		45	37	1	2.060000	-3.523388	1	0.170000	NM_004055			58	54		245	224	1		1	1		0	0	45	0		1	1	0	57	0	89	0	58	245
OMP	4975	broad.mit.edu	37	11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000529803.1	+	1	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	51					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCGGAGTCTGTGTACCGC	0.647																																						ENST00000529803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(151-153)tCt>tAt		olfactory marker protein							41.0	53.0	49.0					11																	76814037		2156	4259	6415	SO:0001583	missense	4975	0	0					g.chr11:76814037C>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.152C>A	chr11.hg19:g.76814037C>A	ENSP00000436376:p.Ser51Tyr	0					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	p.S51Y	NM_006189.1	NP_006180.1	1	2	3	1.991067	P47874	OMP_HUMAN		1	152	+			Q562G2	Missense_Mutation	SNP	ENST00000529803.1	1	1	hg19	c.152C>A	CCDS53682.1	1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858095	0.00558	.	.	ENSG00000254550	ENST00000529803	T	0.31510	1.49	5.12	0.87	0.19102	5.12	0.87	0.19102	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.25256	N	0.98963	B	0.10296	0.003	B	0.13407	0.009	T	0.35176	-0.9799	9	0.02654	T	1	.	3.0411	0.06139	0.3394:0.3208:0.0:0.3398	.	51	P47874	OMP_HUMAN	Y	51	ENSP00000436376:S51Y	ENSP00000436376:S51Y	S	+	2	0	0	OMP	76491685	76491685	0.005000	0.15991	0.993000	0.49108	0.089000	0.18198	0.288000	0.18939	0.330000	0.23485	0.462000	0.41574	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_006189			63	63		211	204	1		1	0		0	0	51	0		1	5.441323e-02	0	0	0	2	0	63	211
CAPN5	726	broad.mit.edu	37	11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A	rs200993761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000278559.3	+	5	860	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	224	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19577	0.0		0.001	False		,,,				2504	0.0					ENST00000278559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(670-672)cGg>cAg		calpain 5		G	GLN/ARG	0,4400		0,0,2200	173.0	167.0	169.0		671	4.7	1.0	11		169	1,8583	1.2+/-3.3	0,1,4291	no	missense	CAPN5	NM_004055.4	43	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	224/641	76825452	1,12983	2200	4292	6492	SO:0001583	missense	726	6	121412	44				g.chr11:76825452G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.671G>A	chr11.hg19:g.76825452G>A	ENSP00000278559:p.Arg224Gln	0		OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q	p.R224Q	NM_004055.4	NP_004046.2	1	2	3	1.991067	O15484	CAN5_HUMAN		5	860	+			O00263	Missense_Mutation	SNP	ENST00000278559.3	1	1	hg19	c.671G>A	CCDS8248.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.115359	0.94339	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	4.72	4.72	0.59763	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.120719	0.56097	D	0.000029	D	0.93831	0.8027	M	0.71206	2.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.91635	0.999;0.701;0.701;0.999	D	0.94435	0.7653	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	262;264;264;224	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	Q	224;264;224;264;264	ENSP00000278559:R224Q;ENSP00000432332:R224Q;ENSP00000409996:R264Q	ENSP00000278559:R224Q	R	+	2	0	0	CAPN5	76503100	76503100	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.860000	0.86993	2.438000	0.82558	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	1	0	1		2	2	2	0		0	0	246		246	244	1	2.060000	-2.808605	1	0.170000	NM_004055			204	202		999	984	1		1	1		0	0	246	0		1	1	0	106	0	148	0	204	999
MYO7A	4647	broad.mit.edu	37	11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	304	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612																																						ENST00000409709.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(910-912)Gcc>Acc		myosin VIIA							51.0	56.0	55.0					11																	76869383		2150	4250	6400	SO:0001583	missense	4647	1	121202	27				g.chr11:76869383G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.910G>A	chr11.hg19:g.76869383G>A	ENSP00000386331:p.Ala304Thr	0					MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T	p.A304T	NM_000260.3	NP_000251.3	1	2	3	1.991067	Q13402	MYO7A_HUMAN		9	1182	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	1	1	hg19	c.910G>A	CCDS53683.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006606	0.93287	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.72	5.72	0.89469	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.994;1.0	D	0.94018	0.7290	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304;304;304	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	304;304;304;293;303;303;303	ENSP00000386331:A304T;ENSP00000386689:A304T;ENSP00000392185:A304T;ENSP00000386635:A293T	ENSP00000340325:A303T	A	+	1	0	0	MYO7A	76547031	76547031	1.000000	0.71417	0.964000	0.40570	0.940000	0.58332	7.967000	0.87967	2.711000	0.92665	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_000260			41	40		137	134	1		1	0		0	0	30	0		1	5.098111e-01	0	0	0	7	0	41	137
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602																																						ENST00000409709.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998340	0.990000	1.000000																										1	Substitution - Missense(1)	p.E339Q(1)	lung(1)	64						c.(1015-1017)Gaa>Aaa		myosin VIIA							84.0	84.0	84.0					11																	76870504		1975	4154	6129	SO:0001583	missense	4647	0	0					g.chr11:76870504G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1015G>A	chr11.hg19:g.76870504G>A	ENSP00000386331:p.Glu339Lys	0					MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K	p.E339K	NM_000260.3	NP_000251.3	1	2	3	1.991067	Q13402	MYO7A_HUMAN		10	1287	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	1	1	hg19	c.1015G>A	CCDS53683.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269780	0.40095	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.218301	0.38720	N	0.001598	T	0.63307	0.2500	L	0.31294	0.92	0.44323	D	0.997201	B;B;B	0.23990	0.095;0.024;0.087	B;B;B	0.27076	0.063;0.025;0.076	T	0.59563	-0.7431	10	0.38643	T	0.18	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	339;339;339	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	339;339;339;328;338;338;338	ENSP00000386331:E339K;ENSP00000386689:E339K;ENSP00000392185:E339K;ENSP00000386635:E328K	ENSP00000340325:E338K	E	+	1	0	0	MYO7A	76548152	76548152	1.000000	0.71417	0.993000	0.49108	0.343000	0.28985	7.571000	0.82399	2.392000	0.81423	0.591000	0.81541	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.221910	1	0.170000	NM_000260			36	32		273	262	1		1	0		0	0	58	0		1	1.986731e-01	0	0	0	7	0	36	273
MYO7A	4647	broad.mit.edu	37	11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	866					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587																																						ENST00000409709.3	1.000000	0.200000	8.100000e-01	3.400000e-01	0.530000	0.570053	0.530000	1.000000																										0				64						c.(2596-2598)Cgc>Tgc		myosin VIIA							35.0	39.0	38.0					11																	76891429		2037	4176	6213	SO:0001583	missense	4647	4	120464	29				g.chr11:76891429C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2596C>T	chr11.hg19:g.76891429C>T	ENSP00000386331:p.Arg866Cys	0					MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C	p.R866C	NM_000260.3	NP_000251.3	1	2	3	1.991067	Q13402	MYO7A_HUMAN		22	2868	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	1	1	hg19	c.2596C>T	CCDS53683.1	0	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932269	0.73442	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89050	-2.42;-2.46;-2.42;-2.43;-2.25	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.61800	0.871;0.871;0.894;0.871	D	0.89193	0.3552	10	0.39692	T	0.17	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	866;855;866;866	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	C	866;866;866;855;77;865;865;742;865;47	ENSP00000386331:R866C;ENSP00000386689:R866C;ENSP00000392185:R866C;ENSP00000386635:R855C;ENSP00000417017:R47C	ENSP00000345075:R742C	R	+	1	0	0	MYO7A	76569077	76569077	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	3.622000	0.54217	2.476000	0.83614	0.448000	0.29417	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1		2	2	2	0		0	0	28		28	20	1	2.060000	-8.196050	1	0.170000	NM_000260			5	4		115	95	0		1	0		0	0	28	0		9.012899e-01	1.216878e-01	0	0	0	12	0	5	115
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1630	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597																																						ENST00000409709.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(4888-4890)Gga>Aga		myosin VIIA							62.0	68.0	66.0					11																	76912528		2171	4246	6417	SO:0001583	missense	4647	0	0					g.chr11:76912528G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4888G>A	chr11.hg19:g.76912528G>A	ENSP00000386331:p.Gly1630Arg	0					MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	p.G1630R	NM_000260.3	NP_000251.3	1	2	3	1.991067	Q13402	MYO7A_HUMAN		36	5160	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	1	1	hg19	c.4888G>A	CCDS53683.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972120	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.58	4.58	0.56647	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	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	1.0;0.999;1.0	D	0.87699	0.2559	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1581;1592;1630	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	1630;1592;1581;803;1629;1599;1506;772;245	ENSP00000386331:G1630R;ENSP00000392185:G1592R;ENSP00000386635:G1581R;ENSP00000417017:G772R	ENSP00000345075:G1506R	G	+	1	0	0	MYO7A	76590176	76590176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_000260			32	32		125	123	1		1	1		0	0	26	0		1	9.745342e-01	0	2	0	24	0	32	125
MYO7A	4647	broad.mit.edu	37	11	76912632	76912632	+	Silent	SNP	C	C	T	rs181573957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000409619.2_Silent_p.T1615T|MYO7A_ENST00000458637.2_Silent_p.T1626T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1664	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612													C|||	13	0.00259585	0.0098	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					ENST00000409709.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				64						c.(4990-4992)acC>acT		myosin VIIA		C	,	42,4240		0,42,2099	71.0	77.0	75.0		4992,4878	-9.2	0.1	11		75	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,42,6333	TT,TC,CC		0.0,0.9809,0.3294	,	1664/2216,1626/2176	76912632	42,12708	2141	4234	6375	SO:0001819	synonymous_variant	4647	97	121146	50				g.chr11:76912632C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4992C>T	chr11.hg19:g.76912632C>T		0					MYO7A_ENST00000458637.2_Silent_p.T1626T|MYO7A_ENST00000409619.2_Silent_p.T1615T	p.T1664T	NM_000260.3	NP_000251.3	1	2	3	1.991067	Q13402	MYO7A_HUMAN		36	5264	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	1	1	hg19	c.4992C>T	CCDS53683.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.673176	1	0.170000	NM_000260			38	38		185	182	1		1	0		0	0	56	0		1	9.445922e-01	0	1	0	25	0	38	185
GDPD4	220032	broad.mit.edu	37	11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000376217.2	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000315938.4_Missense_Mutation_p.S262F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	262	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448																																						ENST00000376217.2	1.000000	0.740000	1	8.400000e-01	0.960000	0.937578	0.960000	1.000000																										0				20						c.(784-786)tCt>tTt		glycerophosphodiester phosphodiesterase domain containing 4							176.0	170.0	172.0					11																	76969510		2200	4292	6492	SO:0001583	missense	220032	1	121412	37				g.chr11:76969510G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.785C>T	chr11.hg19:g.76969510G>A	ENSP00000365390:p.Ser262Phe	0					GDPD4_ENST00000315938.4_Missense_Mutation_p.S262F	p.S262F			1	2	3	1.991067	Q6W3E5	GDPD4_HUMAN		10	1035	-			Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	1	1	hg19	c.785C>T		1	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145636	0.06627	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12465	2.68;2.68	4.73	-0.91	0.10511	4.73	-0.91	0.10511	.	0.896444	0.09863	N	0.745907	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.17979	0.02	T	0.36456	-0.9747	10	0.40728	T	0.16	-1.7653	4.4757	0.11739	0.1736:0.0:0.3917:0.4347	.	262	Q6W3E5-2	.	F	262	ENSP00000365390:S262F;ENSP00000320815:S262F	ENSP00000320815:S262F	S	-	2	0	0	GDPD4	76647158	76647158	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.308000	0.08156	-0.061000	0.13110	0.561000	0.74099	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-14.859230	1	0.170000	NM_182833			63	61		712	698	0		1			0	0	149	0		1	0	0	0	0	0	0	63	712
INTS4	92105	broad.mit.edu	37	11	77639550	77639550	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	ENST00000534064.1	-	11	1243	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	403					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGGTGAAGACTGGGCCAACA	0.468																																						ENST00000534064.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																									INTS4/GAB2(2)	0				32						c.(1207-1209)caG>caT		integrator complex subunit 4							11.0	10.0	11.0					11																	77639550		2193	4259	6452	SO:0001583	missense	92105	0	0					g.chr11:77639550C>A	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.1209G>T	chr11.hg19:g.77639550C>A	ENSP00000434466:p.Gln403His	0					INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	p.Q403H	NM_033547.3	NP_291025.3	1	2	3	1.991067	Q96HW7	INT4_HUMAN	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)	11	1243	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	0	1	hg19	c.1209G>T	CCDS31644.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992402	0.35131	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.42513	0.97;0.97	3.94	1.78	0.24846	3.94	1.78	0.24846	Armadillo-like helical (1);Armadillo-type fold (1);	0.274188	0.37669	N	0.001990	T	0.33206	0.0855	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.42959	0.403	T	0.03922	-1.0992	10	0.41790	T	0.15	-7.284	5.4601	0.16612	0.0:0.6191:0.1481:0.2328	.	403	Q96HW7	INT4_HUMAN	H	403;254;403	ENSP00000434466:Q403H;ENSP00000433644:Q403H	ENSP00000346913:Q254H	Q	-	3	2	2	INTS4	77317198	77317198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.863000	0.27913	0.284000	0.22305	0.471000	0.43371	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	0	0	1		2	2	2	0		0	0	21		21	23	1	2.060000	-20.000000	1	0.170000	NM_033547			21	7		81	27	0		1	1		0	0	21	0		9.925198e-01	9.945206e-01	0	9	0	27	0	21	81
INTS4	92105	broad.mit.edu	37	11	77705641	77705641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77705641C>T	ENST00000534064.1	-	1	83	c.49G>A	c.(49-51)Gtt>Att	p.V17I	INTS4_ENST00000527522.1_Missense_Mutation_p.V17I|INTS4_ENST00000529807.1_Missense_Mutation_p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	17					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTACCTGAACCACTTTCGTG	0.577																																						ENST00000534064.1	1.000000	0.110000	3.100000e-01	1.600000e-01	0.220000	0.258386	0.220000	0.210000																									INTS4/GAB2(2)	0				32						c.(49-51)Gtt>Att		integrator complex subunit 4							95.0	88.0	90.0					11																	77705641		2200	4292	6492	SO:0001583	missense	92105	0	0					g.chr11:77705641C>T	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.49G>A	chr11.hg19:g.77705641C>T	ENSP00000434466:p.Val17Ile	0					INTS4_ENST00000529807.1_Missense_Mutation_p.V17I|INTS4_ENST00000527522.1_Missense_Mutation_p.V17I	p.V17I	NM_033547.3	NP_291025.3	1	2	3	1.991067	Q96HW7	INT4_HUMAN	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)	1	83	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	0	1	hg19	c.49G>A	CCDS31644.1	0	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124834	0.56613	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.134884	0.48767	D	0.000162	T	0.43456	0.1248	N	0.16743	0.435	0.80722	D	1	B	0.32620	0.378	B	0.32211	0.142	T	0.28202	-1.0051	9	0.16896	T	0.51	-21.5488	19.5509	0.95319	0.0:1.0:0.0:0.0	.	17	Q96HW7	INT4_HUMAN	I	17	.	ENSP00000407787:V17I	V	-	1	0	0	INTS4	77383289	77383289	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.894000	0.63206	2.852000	0.98041	0.643000	0.83706	GTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	0	0	1		2	2	2	0		0	0	123		123	118	1	2.060000	-8.831477	1	0.170000	NM_033547			11	10		601	587	0		1	1		0	0	123	0		9.981268e-01	1.385232e-01	0	2	0	31	0	11	601
USP35	57558	broad.mit.edu	37	11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A	rs201981807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T|USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	599	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			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)			CCTCTCTCTCGCCTTCCCTCC	0.622																																						ENST00000529308.1	1.000000	0.340000	6.200000e-01	4.200000e-01	0.510000	0.535173	0.510000	0.500000																										0				23						c.(1795-1797)Gcc>Acc		ubiquitin specific peptidase 35							58.0	63.0	61.0					11																	77920696		2039	4189	6228	SO:0001583	missense	57558	0	0					g.chr11:77920696G>A	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.1795G>A	chr11.hg19:g.77920696G>A	ENSP00000431876:p.Ala599Thr	0					USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T	p.A599T	NM_020798.2	NP_065849.1	1	2	3	1.991067	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)	10	2056	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)			Missense_Mutation	SNP	ENST00000529308.1	1	1	hg19	c.1795G>A	CCDS41693.1	0	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625284	0.87560	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.52	4.52	0.55395	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.18635	0.0447	L	0.41356	1.27	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01105	-1.1450	10	0.87932	D	0	-28.2008	17.4436	0.87572	0.0:0.0:1.0:0.0	.	599;185	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	167;599;185;330	ENSP00000435468:A167T;ENSP00000431876:A599T;ENSP00000400825:A185T;ENSP00000434942:A330T	ENSP00000400825:A185T	A	+	1	0	0	USP35	77598344	77598344	1.000000	0.71417	0.164000	0.22755	0.950000	0.60333	9.647000	0.98478	2.338000	0.79540	0.461000	0.40582	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-3.204599	1	0.170000	XM_290527			29	29		650	631	0		1	0		0	0	127	0		1	2.037166e-01	0	1	0	18	0	29	650
USP35	57558	broad.mit.edu	37	11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y|USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	916	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			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)			CTTCCCTAAGGACACAGCCTA	0.582																																						ENST00000529308.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2746-2748)Gac>Tac		ubiquitin specific peptidase 35							115.0	111.0	112.0					11																	77921647		1959	4135	6094	SO:0001583	missense	57558	0	0					g.chr11:77921647G>T	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.2746G>T	chr11.hg19:g.77921647G>T	ENSP00000431876:p.Asp916Tyr	0					USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y	p.D916Y	NM_020798.2	NP_065849.1	1	2	3	1.991067	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)	10	3007	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)			Missense_Mutation	SNP	ENST00000529308.1	1	1	hg19	c.2746G>T	CCDS41693.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614634	0.87359	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.9	4.9	0.64082	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000007	T	0.55337	0.1914	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.976;1.0	T	0.55418	-0.8144	10	0.49607	T	0.09	-43.9285	18.2591	0.90028	0.0:0.0:1.0:0.0	.	916;502	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	484;916;502;647	ENSP00000435468:D484Y;ENSP00000431876:D916Y;ENSP00000400825:D502Y;ENSP00000434942:D647Y	ENSP00000400825:D502Y	D	+	1	0	0	USP35	77599295	77599295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.411000	0.97342	2.539000	0.85634	0.561000	0.74099	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-3.916525	1	0.170000	XM_290527			159	159		601	586	1		1	1		0	0	142	0		1	9.407744e-01	0	3	0	17	0	159	601
USP35	57558	broad.mit.edu	37	11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I|USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1017					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			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)			CCACAGACTGGTCTTCTAATG	0.587																																						ENST00000529308.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(3049-3051)Gtc>Atc		ubiquitin specific peptidase 35							76.0	76.0	76.0					11																	77924851		2055	4179	6234	SO:0001583	missense	57558	0	0					g.chr11:77924851G>A	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.3049G>A	chr11.hg19:g.77924851G>A	ENSP00000431876:p.Val1017Ile	0					USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I	p.V1017I	NM_020798.2	NP_065849.1	1	2	3	1.991067	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)	11	3310	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)			Missense_Mutation	SNP	ENST00000529308.1	1	1	hg19	c.3049G>A	CCDS41693.1	1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.683397	0.88542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17854	2.93;3.04;2.25;3.03	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000404	T	0.40619	0.1124	L	0.61218	1.895	0.47698	D	0.999495	D;D	0.69078	0.984;0.997	D;D	0.73708	0.967;0.981	T	0.31251	-0.9950	10	0.87932	D	0	-37.6217	17.842	0.88718	0.0:0.0:1.0:0.0	.	1017;603	Q9P2H5;E7EWV7	UBP35_HUMAN;.	I	585;1017;603;748	ENSP00000435468:V585I;ENSP00000431876:V1017I;ENSP00000400825:V603I;ENSP00000434942:V748I	ENSP00000400825:V603I	V	+	1	0	0	USP35	77602499	77602499	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.713000	0.74686	2.436000	0.82500	0.558000	0.71614	GTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	XM_290527			45	45		217	214	1		1	1		0	0	35	0		1	8.380199e-01	0	4	0	14	0	45	217
GAB2	9846	broad.mit.edu	37	11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	604					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582																																						ENST00000361507.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									INTS4/GAB2(2)	0				24						c.(1810-1812)gCc>gTc		GRB2-associated binding protein 2							80.0	76.0	77.0					11																	77931441		2200	4292	6492	SO:0001583	missense	9846	0	0					g.chr11:77931441G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1811C>T	chr11.hg19:g.77931441G>A	ENSP00000354952:p.Ala604Val	0					GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	p.A604V	NM_080491.2	NP_536739.1	1	2	3	1.991067	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)	9	1896	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	1	1	hg19	c.1811C>T	CCDS8259.1	1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205475	0.58234	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.19806	2.12;2.12	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.067531	0.64402	U	0.000018	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.18429	-1.0337	10	0.07325	T	0.83	-25.4457	20.0018	0.97417	0.0:0.0:1.0:0.0	.	604	Q9UQC2	GAB2_HUMAN	V	566;604	ENSP00000343959:A566V;ENSP00000354952:A604V	ENSP00000343959:A566V	A	-	2	0	0	GAB2	77609089	77609089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_080491			67	65		292	285	1		1	1		0	0	89	0		1	9.998734e-01	0	16	0	44	0	67	292
GAB2	9846	broad.mit.edu	37	11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	399					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542																																						ENST00000361507.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																									INTS4/GAB2(2)	0				24						c.(1195-1197)Cga>Tga		GRB2-associated binding protein 2							149.0	127.0	135.0					11																	77937523		2199	4292	6491	SO:0001587	stop_gained	9846	0	0					g.chr11:77937523G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1195C>T	chr11.hg19:g.77937523G>A	ENSP00000354952:p.Arg399*	0					GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	p.R399*	NM_080491.2	NP_536739.1	1	2	3	1.991067	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)	4	1280	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		A2RRM2|A6NEW9|A7MD36|O60317	Nonsense_Mutation	SNP	ENST00000361507.4	0	1	hg19	c.1195C>T	CCDS8259.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.678256	0.96764	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	.	.	.	5.21	4.28	0.50868	5.21	4.28	0.50868	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3846	13.3867	0.60799	0.0:0.0:0.6566:0.3434	.	.	.	.	X	361;399	.	ENSP00000343959:R361X	R	-	1	2	2	GAB2	77615171	77615171	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.405000	0.59741	1.292000	0.44672	0.561000	0.74099	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.075777	1	0.170000	NM_080491			75	74		477	461	1		1	1		0	0	87	0		1	9.964999e-01	0	2	0	53	0	75	477
NARS2	79731	broad.mit.edu	37	11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000281038.5	-	4	793	c.418C>T	c.(418-420)Cga>Tga	p.R140*	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)	140					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)			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)	GGATATTGTCGCAGATACTCC	0.373																																						ENST00000281038.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(418-420)Cga>Tga		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						91.0	89.0	90.0					11																	78277273		2200	4291	6491	SO:0001587	stop_gained	79731	0	0					g.chr11:78277273G>A	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.418C>T	chr11.hg19:g.78277273G>A	ENSP00000281038:p.Arg140*	0					NARS2_ENST00000528850.1_5'UTR	p.R140*	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	1	2	3	1.991067	Q96I59	SYNM_HUMAN		4	793	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	0	1	hg19	c.418C>T	CCDS8261.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198350	0.79015	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	2.6	0.31112	5.13	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3496	11.5876	0.50927	0.0:0.0:0.3858:0.6142	.	.	.	.	X	140	.	ENSP00000281038:R140X	R	-	1	2	2	NARS2	77954921	77954921	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	1.833000	0.39161	0.898000	0.36418	-0.264000	0.10439	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_024678			76	76		311	306	1		1	1		0	0	85	0		1	9.999063e-01	0	4	0	54	0	76	311
FAM181B	220382	broad.mit.edu	37	11	82444612	82444612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	ENST00000329203.3	-	1	294	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	54										large_intestine(1)|lung(2)|prostate(1)	4						CCTCCTTCGGCTCCCGACAGC	0.682																																						ENST00000329203.3	1.000000	0.360000	1	5.500000e-01	0.800000	0.782024	0.800000	1.000000																										0				4						c.(160-162)Gcc>Acc		family with sequence similarity 181, member B							18.0	18.0	18.0					11																	82444612		2202	4299	6501	SO:0001583	missense	220382	0	0					g.chr11:82444612C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.160G>A	chr11.hg19:g.82444612C>T	ENSP00000365295:p.Ala54Thr	0						p.A54T	NM_175885.3	NP_787081.2	1	2	3	1.991067	A6NEQ2	F181B_HUMAN		1	294	-			B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	0	1	hg19	c.160G>A	CCDS31648.1	0	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502213	0.12822	.	.	ENSG00000182103	ENST00000329203	T	0.31510	1.49	3.79	1.59	0.23543	3.79	1.59	0.23543	.	1.269860	0.06393	U	0.717378	T	0.14917	0.0360	N	0.08118	0	0.25154	N	0.990404	B	0.14438	0.01	B	0.14578	0.011	T	0.31861	-0.9928	9	.	.	.	.	4.8862	0.13704	0.2079:0.6558:0.0:0.1363	.	54	A6NEQ2	F181B_HUMAN	T	54	ENSP00000365295:A54T	.	A	-	1	0	0	FAM181B	82122260	82122260	0.065000	0.20965	0.221000	0.23827	0.029000	0.11900	0.237000	0.17985	0.143000	0.18926	0.455000	0.32223	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	1	0	0		2	2	2	0		0	0	11		11	10	1	2.060000	-11.209170	1	0.170000	NM_175885			7	7		101	99	0		1			0	0	11	0		9.804924e-01	0	0	0	0	0	0	7	101
FAM181B	220382	broad.mit.edu	37	11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692																																						ENST00000329203.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999874	0.990000	1.000000																										0				4						c.(139-141)Gcg>Acg		family with sequence similarity 181, member B							13.0	15.0	14.0					11																	82444633		2178	4270	6448	SO:0001583	missense	220382	0	0					g.chr11:82444633C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.139G>A	chr11.hg19:g.82444633C>T	ENSP00000365295:p.Ala47Thr	0						p.A47T	NM_175885.3	NP_787081.2	1	2	3	1.991067	A6NEQ2	F181B_HUMAN		1	273	-			B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	0	1	hg19	c.139G>A	CCDS31648.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803751	0.50315	.	.	ENSG00000182103	ENST00000329203	T	0.32272	1.46	3.51	3.51	0.40186	3.51	3.51	0.40186	.	0.860133	0.09314	U	0.819132	T	0.24005	0.0581	N	0.22421	0.69	0.28960	N	0.889904	P	0.42518	0.782	B	0.40256	0.324	T	0.07597	-1.0764	9	.	.	.	.	13.3973	0.60861	0.0:1.0:0.0:0.0	.	47	A6NEQ2	F181B_HUMAN	T	47	ENSP00000365295:A47T	.	A	-	1	0	0	FAM181B	82122281	82122281	0.876000	0.30132	0.984000	0.44739	0.022000	0.10575	1.156000	0.31712	1.800000	0.52685	0.455000	0.32223	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_175885			19	18		86	83	0		1	0		0	0	8	0		9.999931e-01	0	0	0	0	1	0	19	86
PRCP	5547	broad.mit.edu	37	11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	148					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408																																						ENST00000313010.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(442-444)Gaa>Taa		prolylcarboxypeptidase (angiotensinase C)							120.0	120.0	120.0					11																	82561517		2203	4300	6503	SO:0001587	stop_gained	5547	0	0					g.chr11:82561517C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.442G>T	chr11.hg19:g.82561517C>A	ENSP00000317362:p.Glu148*	0					PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	p.E148*	NM_005040.2	NP_005031.1	1	2	3	1.991067	P42785	PCP_HUMAN		4	636	-			A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	0	1	hg19	c.442G>T	CCDS8262.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176326	0.78564	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6616	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	148;169;43;43;43;43;43;43;107;43;94;43	.	.	E	-	1	0	0	PRCP	82239165	82239165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.801000	0.96364	0.650000	0.86243	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_005040			104	102		474	465	1		1	0		0	0	102	0		1	1	0	0	0	302	0	104	474
DDIAS	220042	broad.mit.edu	37	11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		87					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)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313																																						ENST00000533655.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(259-261)gCc>gTc									120.0	119.0	119.0					11																	82639965		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr11:82639965C>T																												ENST00000533655.1:c.260C>T	chr11.hg19:g.82639965C>T	ENSP00000435421:p.Ala87Val	0					C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR	p.A87V	NM_145018.3	NP_659455.3	1	2	3	1.991067	Q8IXT1	DDIAS_HUMAN		4	472	+			Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	1	1	hg19	c.260C>T	CCDS8263.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431538	0.83776	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53857	0.6;0.6	5.75	4.83	0.62350	5.75	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.73241	0.3562	M	0.81239	2.535	0.41499	D	0.988277	D;D	0.89917	0.983;1.0	P;D	0.68192	0.808;0.956	T	0.77148	-0.2694	9	.	.	.	.	16.8517	0.85996	0.0:0.8715:0.1285:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	V	87;87;87;87;148;87;87	ENSP00000414687:A87V;ENSP00000435421:A87V	.	A	+	2	0	0	C11orf82	82317613	82317613	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.673000	0.68109	1.406000	0.46857	0.557000	0.71058	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000				64	61		318	312	1		1	0		0	0	80	0		1	2.020887e-01	0	1	0	4	0	64	318
PCF11	51585	broad.mit.edu	37	11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	998	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512																																						ENST00000298281.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2992-2994)Cct>Tct		PCF11 cleavage and polyadenylation factor subunit							93.0	93.0	93.0					11																	82880369		1919	4126	6045	SO:0001583	missense	51585	0	0					g.chr11:82880369C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2992C>T	chr11.hg19:g.82880369C>T	ENSP00000298281:p.Pro998Ser	0						p.P998S	NM_015885.3	NP_056969.2	1	2	3	1.991067	O94913	PCF11_HUMAN		8	3444	+			A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	1	1	hg19	c.2992C>T	CCDS44689.1	1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856840	0.32791	.	.	ENSG00000165494	ENST00000298281	T	0.34667	1.35	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.50650	0.1628	L	0.50333	1.59	0.50632	D	0.999881	D	0.62365	0.991	P	0.55667	0.781	T	0.26538	-1.0100	9	.	.	.	-10.5135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	998	O94913	PCF11_HUMAN	S	998	ENSP00000298281:P998S	.	P	+	1	0	0	PCF11	82558017	82558017	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.732000	0.62029	2.826000	0.97356	0.655000	0.94253	CCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015885			47	45		192	188	1		1	1		0	0	37	0		1	9.999048e-01	0	14	0	46	0	47	192
CCDC90B	60492	broad.mit.edu	37	11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	214						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338																																						ENST00000529689.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(640-642)gAc>gGc		coiled-coil domain containing 90B							139.0	136.0	137.0					11																	82976975		2202	4298	6500	SO:0001583	missense	60492	0	0					g.chr11:82976975T>C	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.641A>G	chr11.hg19:g.82976975T>C	ENSP00000434724:p.Asp214Gly	0					CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000525504.1_5'UTR	p.D214G			1	2	3	1.991067	Q9GZT6	CC90B_HUMAN		8	1075	-		Acute lymphoblastic leukemia(157;0.103)	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	1	1	hg19	c.641A>G	CCDS8266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876845|4.876845	0.91664|0.91664	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611|ENST00000529073	T;T;T;T|T	0.61627|0.32023	0.09;0.09;0.09;0.09|1.47	5.68|5.68	5.68|5.68	0.88126|0.88126	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.087407|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88105|0.88105	2.93|2.93	0.32384|0.32384	N|N	0.554177|0.554177	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.73285|0.73285	-0.4031|-0.4031	9|6	.|.	.|.	.|.	-12.0863|-12.0863	15.933|15.933	0.79679|0.79679	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;214|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	G|A	214;205;113;113|203	ENSP00000434724:D214G;ENSP00000390990:D205G;ENSP00000431424:D113G;ENSP00000431345:D113G|ENSP00000431523:T203A	.|.	D|T	-|-	2|1	0|0	0|0	CCDC90B|CCDC90B	82654623|82654623	82654623|82654623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.044000|7.044000	0.76578|0.76578	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GAC|ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_021825			60	59		302	299	1		1	1		0	0	62	0		1	1	0	50	0	157	0	60	302
DLG2	1740	broad.mit.edu	37	11	84245751	84245751	+	Silent	SNP	G	G	A	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000532653.1	-	2	368	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000376104.2_Silent_p.D127D|DLG2_ENST00000398309.2_Silent_p.D22D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			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)				CATGTGGAGCGTCCTCATCTT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20971	0.0		0.0	False		,,,				2504	0.001					ENST00000532653.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(64-66)gaC>gaT		discs, large homolog 2 (Drosophila)		G	,	0,3754		0,0,1877	179.0	167.0	171.0		381,66	-4.0	0.9	11	dbSNP_134	171	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous	DLG2	NM_001142699.1,NM_001364.3	,	0,2,5989	AA,AG,GG		0.0243,0.0,0.0167	,	127/976,22/871	84245751	2,11980	1877	4114	5991	SO:0001819	synonymous_variant	1740	11	120836	45				g.chr11:84245751G>A	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.66C>T	chr11.hg19:g.84245751G>A		0					DLG2_ENST00000398309.2_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D	p.D22D			1	2	3	1.991067	Q14168	MPP2_HUMAN		2	368	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	1	1	hg19	c.66C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	1	0	1		2	2	2	0		0	0	130		130	126	1	2.060000	-20.000000	1	0.170000	NM_001364			142	140		602	591	1		1	0		0	0	130	0		1	3.695210e-02	0	0	0	2	0	142	602
DLG2	1740	broad.mit.edu	37	11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000532653.1	-	1	324	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Missense_Mutation_p.A8T|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			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)				GTCCGGAGTGCACAGTAACAT	0.493																																						ENST00000532653.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				71						c.(22-24)Gca>Aca		discs, large homolog 2 (Drosophila)							68.0	71.0	70.0					11																	84634141		2081	4219	6300	SO:0001583	missense	1740	0	0					g.chr11:84634141C>T	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.22G>A	chr11.hg19:g.84634141C>T	ENSP00000435849:p.Ala8Thr	0					DLG2_ENST00000398309.2_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron	p.A8T			1	2	3	1.991067	Q14168	MPP2_HUMAN		1	324	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	1	1	hg19	c.22G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308491	0.40895	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	T;T;T	0.12984	2.68;2.68;2.63	5.95	5.95	0.96441	5.95	5.95	0.96441	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	P;B;B	0.49447	0.924;0.032;0.019	P;B;B	0.57776	0.827;0.017;0.028	T	0.05419	-1.0886	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2T4;E9PN83;Q15700	.;.;DLG2_HUMAN	T	8	ENSP00000381355:A8T;ENSP00000432894:A8T;ENSP00000435849:A8T	.	A	-	1	0	0	DLG2	84311789	84311789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.821000	0.97095	0.650000	0.86243	GCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_001364			40	40		218	217	1		1			0	0	42	0		1	0	0	0	0	0	0	40	218
CREBZF	58487	broad.mit.edu	37	11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	151					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647																																					NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(451-453)gCc>gTc		CREB/ATF bZIP transcription factor							26.0	30.0	29.0					11																	85375468		2015	4189	6204	SO:0001583	missense	58487	0	0					g.chr11:85375468G>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.452C>T	chr11.hg19:g.85375468G>A	ENSP00000433459:p.Ala151Val	0					CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.A151V	NM_001039618.2	NP_001034707.1	1	2	3	1.991067	Q9NS37	ZHANG_HUMAN		1	678	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	1	1	hg19	c.452C>T	CCDS41697.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349764	0.61183	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.236704	0.24345	N	0.039330	T	0.24967	0.0606	N	0.14661	0.345	0.26011	N	0.98199	B	0.23377	0.084	B	0.18871	0.023	T	0.09271	-1.0682	8	.	.	.	-25.8693	12.725	0.57166	0.0:0.0:1.0:0.0	.	151	Q9NS37	ZHANG_HUMAN	V	69;151	.	.	A	-	2	0	0	CREBZF	85053116	85053116	0.998000	0.40836	0.995000	0.50966	0.699000	0.40488	1.618000	0.36954	2.366000	0.80165	0.561000	0.74099	GCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-4.449850	1	0.170000	NM_001039618			80	80		267	264	1		1	1		0	0	66	0		1	9.999999e-01	0	27	0	52	0	80	267
CCDC89	220388	broad.mit.edu	37	11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGGGCGGGGTGTCCATCCT	0.527																																						ENST00000316398.3	1.000000	0.230000	5.100000e-01	3.000000e-01	0.390000	0.425336	0.390000	0.380000																										0				15						c.(46-48)aCc>aTc		coiled-coil domain containing 89							67.0	70.0	69.0					11																	85397127		2203	4299	6502	SO:0001583	missense	220388	1	121412	35				g.chr11:85397127G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.47C>T	chr11.hg19:g.85397127G>A	ENSP00000320649:p.Thr16Ile	0						p.T16I	NM_152723.1	NP_689936.1	1	2	3	1.991067	Q8N998	CCD89_HUMAN		1	193	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)		Missense_Mutation	SNP	ENST00000316398.3	1	1	hg19	c.47C>T	CCDS8270.1	0	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796267	0.31777	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.61	3.75	0.43078	5.61	3.75	0.43078	.	0.411501	0.17492	N	0.172313	T	0.43831	0.1265	L	0.57536	1.79	0.22552	N	0.998991	B	0.15473	0.013	B	0.19148	0.024	T	0.30208	-0.9986	8	.	.	.	-2.6236	12.1409	0.53996	0.1409:0.0:0.8591:0.0	.	16	Q8N998	CCD89_HUMAN	I	16	.	.	T	-	2	0	0	CCDC89	85074775	85074775	0.015000	0.18098	0.566000	0.28421	0.177000	0.22998	1.749000	0.38319	0.736000	0.32559	-0.136000	0.14681	ACC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-14.626140	1	0.170000	NM_152723			16	16		476	471	0		1	0		0	0	83	0		9.999293e-01	1.251380e-03	0	0	0	2	0	16	476
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T	rs370756412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000316356.4_Silent_p.S391S|SYTL2_ENST00000389960.4_Silent_p.S390S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					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)			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)		GATGAAAAAGCGAAGGCTTTC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19078	0.0		0.0	False		,,,				2504	0.0051					ENST00000528231.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1168-1170)tcG>tcA		synaptotagmin-like 2							145.0	140.0	142.0					11																	85445199		2203	4299	6502	SO:0001819	synonymous_variant	54843	114	121412	51				g.chr11:85445199C>T	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.1170G>A	chr11.hg19:g.85445199C>T		0					SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000316356.4_Silent_p.S391S	p.S390S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	1	2	3	1.991067	Q9HCH5	SYTL2_HUMAN		6	1447	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	1	1	hg19	c.1170G>A	CCDS53688.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.584946	1	0.170000	NM_206927			112	111		455	450	1		1	1		0	0	93	0		1	9.975998e-01	0	2	0	37	0	112	455
PICALM	8301	broad.mit.edu	37	11	85685823	85685823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85685823C>T	ENST00000393346.3	-	19	2020	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	PICALM_ENST00000526033.1_Silent_p.T617T|PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	624					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGGTTGGTTGCGTCATTACAG	0.403			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000393346.3	1.000000	0.250000	5.600000e-01	3.300000e-01	0.430000	0.460835	0.430000	0.410000				Dom	yes			Dom	yes		11	11q14	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)				L	L	MLLT10, MLL		TALL, AML, 		0				19						c.(1870-1872)acG>acA		phosphatidylinositol binding clathrin assembly protein							245.0	204.0	218.0					11																	85685823		2203	4299	6502	SO:0001819	synonymous_variant	8301	2	121412	35				g.chr11:85685823C>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1872G>A	chr11.hg19:g.85685823C>T		0					PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000526033.1_Silent_p.T617T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T	p.T624T			1	2	3	1.991067	Q13492	PICAL_HUMAN		19	2020	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	1	1	hg19	c.1872G>A	CCDS8272.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.172|5.172	0.217324|0.217324	0.09810|0.09810	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692	.|.	.|.	.|.	5.87|5.87	2.28|2.28	0.28536|0.28536	5.87|5.87	2.28|2.28	0.28536|0.28536	.|.	.|.	.|.	.|.	.|.	T|T	0.55065|0.55065	0.1897|0.1897	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44065|0.44065	-0.9352|-0.9352	4|4	.|.	.|.	.|.	-10.1482|-10.1482	7.1284|7.1284	0.25486|0.25486	0.0:0.1316:0.2245:0.6439|0.0:0.1316:0.2245:0.6439	.|.	.|.	.|.	.|.	T|H	280;106;236|161	.|.	.|.	A|R	-|-	1|2	0|0	0|0	PICALM|PICALM	85363471|85363471	85363471|85363471	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	0.264000|0.264000	0.18497|0.18497	0.197000|0.197000	0.20387|0.20387	-2.283000|-2.283000	0.00269|0.00269	GCA|CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	0	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.032841	1	0.170000	NM_007166			17	16		460	450	0		1	1		0	0	110	0		9.999590e-01	9.999998e-01	0	33	0	770	0	17	460
PICALM	8301	broad.mit.edu	37	11	85733411	85733411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000393346.3	-	4	599	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000526033.1_Splice_Site_p.G151W|PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000528411.1_5'Flank|PICALM_ENST00000356360.5_Splice_Site_p.G151W			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	151					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000393346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q14	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)				L	L	MLLT10, MLL		TALL, AML, 		0				19						c.(451-453)Ggg>Tgg		phosphatidylinositol binding clathrin assembly protein							93.0	94.0	94.0					11																	85733411		2202	4292	6494	SO:0001630	splice_region_variant	8301	0	0					g.chr11:85733411C>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.452+1G>T	chr11.hg19:g.85733411C>A		0					PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000526033.1_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000528411.1_5'Flank|PICALM_ENST00000356360.5_Splice_Site_p.G151W	p.G151W			1	2	3	1.991067	Q13492	PICAL_HUMAN		4	599	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Splice_Site	SNP	ENST00000393346.3	1	0	hg19	c.451G>T	CCDS8272.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686847	0.88639	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	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	5.34	5.34	0.76211	5.34	5.34	0.76211	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.90198	3.095	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	T	0.72184	-0.4367	9	.	.	.	-9.3463	19.1015	0.93276	0.0:1.0:0.0:0.0	.	100;151;151;151	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	W	151;151;151;151;100;151;117;100;117	ENSP00000436958:G151W;ENSP00000433846:G151W;ENSP00000377015:G151W;ENSP00000434884:G100W;ENSP00000348718:G151W;ENSP00000433303:G117W;ENSP00000436508:G100W;ENSP00000431545:G117W	.	G	-	1	0	0	PICALM	85411059	85411059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.504000	0.84457	0.461000	0.40582	GGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.216624	1	0.170000	NM_007166	Missense_Mutation		73	73		276	264	1		1	1		0	0	84	0		1	1	0	86	0	433	0	73	276
EED	8726	broad.mit.edu	37	11	85967452	85967452	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000263360.6	+	5	1136	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000351625.6_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000528180.1_Silent_p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	150	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323																																						ENST00000263360.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(448-450)tgT>tgC		embryonic ectoderm development							95.0	95.0	95.0					11																	85967452		2202	4299	6501	SO:0001819	synonymous_variant	8726	0	0					g.chr11:85967452T>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.450T>C	chr11.hg19:g.85967452T>C		0					EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	p.C150C	NM_003797.3	NP_003788.2	1	2	3	1.991067	O75530	EED_HUMAN		5	1136	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	1	1	hg19	c.450T>C	CCDS8273.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_003797			70	70		246	242	1		1	1		0	0	52	0		1	1	0	32	0	76	0	70	246
EED	8726	broad.mit.edu	37	11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000263360.6	+	10	1689	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	EED_ENST00000351625.6_Missense_Mutation_p.K360Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000527888.1_5'UTR	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	335	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAAACCTGGCAAGATGGAAGA	0.353																																						ENST00000263360.6	1.000000	0.300000	7.200000e-01	4.000000e-01	0.540000	0.570145	0.540000	0.520000																										0				21						c.(1003-1005)Aag>Cag		embryonic ectoderm development							98.0	98.0	98.0					11																	85988058		2202	4299	6501	SO:0001583	missense	8726	0	0					g.chr11:85988058A>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1003A>C	chr11.hg19:g.85988058A>C	ENSP00000263360:p.Lys335Gln	0					EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q	p.K335Q	NM_003797.3	NP_003788.2	1	2	3	1.991067	O75530	EED_HUMAN		10	1689	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	1	1	hg19	c.1003A>C	CCDS8273.1	0	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294009	0.40594	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T;T	0.53206	0.63;1.57;0.63;0.63	5.74	5.74	0.90152	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050105	0.85682	D	0.000000	T	0.29850	0.0746	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23735	0.0;0.09;0.006;0.0	B;B;B;B	0.19391	0.0;0.015;0.025;0.0	T	0.12528	-1.0544	9	.	.	.	-15.9168	16.0343	0.80612	1.0:0.0:0.0:0.0	.	335;255;360;335	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	335;255;360;335;84	ENSP00000263360:K335Q;ENSP00000431778:K255Q;ENSP00000338186:K360Q;ENSP00000315587:K335Q	.	K	+	1	0	0	EED	85665706	85665706	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.875000	0.75551	2.198000	0.70561	0.533000	0.62120	AAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-4.534567	1	0.170000	NM_003797			13	12		279	276	0		1	1		0	0	48	0		9.995232e-01	9.408633e-01	0	7	0	99	0	13	279
EED	8726	broad.mit.edu	37	11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000263360.6	+	10	1773	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_ENST00000351625.6_Missense_Mutation_p.I388V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000527888.1_Missense_Mutation_p.I28V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	363	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358																																						ENST00000263360.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1087-1089)Att>Gtt		embryonic ectoderm development							168.0	171.0	170.0					11																	85988142		2202	4299	6501	SO:0001583	missense	8726	0	0					g.chr11:85988142A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1087A>G	chr11.hg19:g.85988142A>G	ENSP00000263360:p.Ile363Val	0					EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000351625.6_Missense_Mutation_p.I388V	p.I363V	NM_003797.3	NP_003788.2	1	2	3	1.991067	O75530	EED_HUMAN		10	1773	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	1	1	hg19	c.1087A>G	CCDS8273.1	1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856552	0.91355	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T;T	0.64618	1.71;1.62;1.71;1.71;-0.11	5.74	5.74	0.90152	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.56280	1.765	0.80722	D	1	P;D;P;B	0.59357	0.684;0.985;0.867;0.226	P;D;P;B	0.67548	0.525;0.952;0.664;0.19	T	0.73363	-0.4006	9	.	.	.	-14.2414	16.0343	0.80612	1.0:0.0:0.0:0.0	.	363;283;388;363	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	363;283;388;363;112;28;28	ENSP00000263360:I363V;ENSP00000431778:I283V;ENSP00000338186:I388V;ENSP00000315587:I363V;ENSP00000437318:I28V	.	I	+	1	0	0	EED	85665790	85665790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.198000	0.70561	0.533000	0.62120	ATT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_003797			102	98		445	439	1		1	1		0	0	103	0		1	1	0	20	0	88	0	102	445
PRSS23	11098	broad.mit.edu	37	11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	36						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542																																						ENST00000280258.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				18						c.(106-108)cGc>cAc		protease, serine, 23							113.0	110.0	111.0					11																	86518792		2201	4299	6500	SO:0001583	missense	11098	2	121412	35				g.chr11:86518792G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.107G>A	chr11.hg19:g.86518792G>A	ENSP00000280258:p.Arg36His	0					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	p.R36H	NM_007173.4	NP_009104.1	1	2	3	1.991067	O95084	PRS23_HUMAN		2	532	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	1	1	hg19	c.107G>A	CCDS8278.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420746	0.62622	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.95	0.45737	5.8	3.95	0.45737	.	0.057555	0.64402	D	0.000002	T	0.45617	0.1351	L	0.44542	1.39	0.42263	D	0.992025	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.29336	-1.0015	8	.	.	.	-11.6981	9.5078	0.39058	0.2122:0.0:0.7878:0.0	.	36;36	B4E2J3;O95084	.;PRS23_HUMAN	H	36	.	.	R	+	2	0	0	PRSS23	86196440	86196440	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.761000	0.47589	0.817000	0.34445	-0.136000	0.14681	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.221884	1	0.170000	NM_007173			65	62		464	453	1		1	1		0	0	76	0		1	1	0	17	0	438	0	65	464
PRSS23	11098	broad.mit.edu	37	11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	rs149020963	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	208						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517																																						ENST00000280258.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(622-624)Gac>Aac		protease, serine, 23		G	ASN/ASP	0,4402		0,0,2201	38.0	36.0	37.0		622	-10.7	0.0	11	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRSS23	NM_007173.4	23	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	208/384	86519307	1,12999	2201	4299	6500	SO:0001583	missense	11098	8	121412	40				g.chr11:86519307G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.622G>A	chr11.hg19:g.86519307G>A	ENSP00000280258:p.Asp208Asn	0					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	p.D208N	NM_007173.4	NP_009104.1	1	2	3	1.991067	O95084	PRS23_HUMAN		2	1047	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	1	1	hg19	c.622G>A	CCDS8278.1	1	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614015	0.14066	0.0	1.16E-4	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.88664	-2.41;-2.41	6.06	-10.7	0.00240	6.06	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.727610	0.02331	N	0.073976	T	0.78259	0.4255	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62215	-0.6901	9	.	.	.	-0.1783	8.0381	0.30504	0.6445:0.1543:0.1236:0.0776	.	176;208	B4E2J3;O95084	.;PRS23_HUMAN	N	208;176	ENSP00000280258:D208N;ENSP00000393015:D176N	.	D	+	1	0	0	PRSS23	86196955	86196955	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-0.662000	0.05305	-2.173000	0.00773	-0.140000	0.14226	GAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_007173			37	37		158	157	1		1	1		0	0	51	0		1	1	0	41	0	379	0	37	158
PRSS23	11098	broad.mit.edu	37	11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	328						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAGAGACAGCAGCAGAAGT	0.527																																						ENST00000280258.5	1.000000	0.200000	5.100000e-01	2.800000e-01	0.370000	0.411657	0.370000	0.370000																										0				18						c.(982-984)caG>caT		protease, serine, 23							88.0	96.0	93.0					11																	86519669		2201	4299	6500	SO:0001583	missense	11098	0	0					g.chr11:86519669G>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.984G>T	chr11.hg19:g.86519669G>T	ENSP00000280258:p.Gln328His	0					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	p.Q328H	NM_007173.4	NP_009104.1	1	2	3	1.991067	O95084	PRS23_HUMAN		2	1409	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	1	1	hg19	c.984G>T	CCDS8278.1	0	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089988	0.36855	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.74	3.82	0.43975	5.74	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.695759	0.15293	N	0.270060	T	0.33847	0.0877	N	0.08118	0	0.34112	D	0.663066	P;P	0.37612	0.602;0.602	P;B	0.45377	0.478;0.353	T	0.41627	-0.9498	8	.	.	.	-0.5852	10.6054	0.45392	0.0725:0.1339:0.7936:0.0	.	296;328	B4E2J3;O95084	.;PRS23_HUMAN	H	328;296	.	.	Q	+	3	2	2	PRSS23	86197317	86197317	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.917000	0.48821	0.727000	0.32360	0.563000	0.77884	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-12.410810	1	0.170000	NM_007173			13	13		406	400	0		1	1		0	0	79	0		9.995041e-01	9.999879e-01	0	6	0	672	0	13	406
FZD4	8322	broad.mit.edu	37	11	86663296	86663296	+	Missense_Mutation	SNP	G	G	T	rs61735303	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86663296G>T	ENST00000531380.1	-	2	807	c.502C>A	c.(502-504)Ccc>Acc	p.P168T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	168			P -> S (in dbSNP:rs61735303). {ECO:0000269|PubMed:15223780, ECO:0000269|PubMed:15733276, ECO:0000269|PubMed:19324841}.		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)			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)				TGAGGTAAGGGCACCTCTTCA	0.517																																						ENST00000531380.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(502-504)Ccc>Acc		frizzled class receptor 4							139.0	132.0	134.0					11																	86663296		2201	4299	6500	SO:0001583	missense	8322	0	0					g.chr11:86663296G>T	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.502C>A	chr11.hg19:g.86663296G>T	ENSP00000434034:p.Pro168Thr	0					PRSS23_ENST00000533902.2_3'UTR	p.P168T	NM_012193.3	NP_036325.2	1	2	3	1.991067	Q9ULV1	FZD4_HUMAN		2	807	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	1	0	hg19	c.502C>A	CCDS8279.1	1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591259	0.46214	.	.	ENSG00000174804	ENST00000531380	T	0.81078	-1.45	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.201805	0.52532	D	0.000070	T	0.64649	0.2617	N	0.08118	0	0.80722	D	1	B	0.29716	0.255	B	0.21360	0.034	T	0.62086	-0.6928	9	.	.	.	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	168	Q9ULV1	FZD4_HUMAN	T	168	ENSP00000434034:P168T	.	P	-	1	0	0	FZD4	86340944	86340944	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.399000	0.73248	2.760000	0.94817	0.655000	0.94253	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-1.586859	0	0.170000	NM_012193			103	102		375	368	0		1	0		0	0	111	0		1	9.950597e-01	0	0	0	32	0	103	375
TMEM135	65084	broad.mit.edu	37	11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000305494.5	+	8	695	c.656G>A	c.(655-657)aGa>aAa	p.R219K	TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000340353.7_Missense_Mutation_p.R197K	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	219					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368																																						ENST00000305494.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(655-657)aGa>aAa		transmembrane protein 135							153.0	164.0	160.0					11																	87013442		2201	4299	6500	SO:0001583	missense	65084	0	0					g.chr11:87013442G>A	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.656G>A	chr11.hg19:g.87013442G>A	ENSP00000306344:p.Arg219Lys	0					TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000340353.7_Missense_Mutation_p.R197K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K	p.R219K	NM_022918.3	NP_075069.3	1	2	3	1.991067	Q86UB9	TM135_HUMAN		8	695	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	1	1	hg19	c.656G>A	CCDS8280.1	1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715959	0.15306	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.43294	0.96;0.96;0.95;0.96	5.55	2.51	0.30379	5.55	2.51	0.30379	.	0.651371	0.16326	N	0.219326	T	0.31857	0.0810	L	0.47716	1.5	0.27324	N	0.956958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20907	-1.0261	9	.	.	.	-20.9088	7.203	0.25891	0.1573:0.267:0.5758:0.0	.	197;219	Q86UB9-2;Q86UB9	.;TM135_HUMAN	K	197;56;90;219;80	ENSP00000345513:R197K;ENSP00000436179:R90K;ENSP00000306344:R219K;ENSP00000439525:R80K	.	R	+	2	0	0	TMEM135	86691090	86691090	1.000000	0.71417	0.503000	0.27626	0.079000	0.17450	0.990000	0.29642	0.319000	0.23209	0.655000	0.94253	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-4.196873	1	0.170000	NM_022918			116	115		414	401	1		1	1		0	0	89	0		1	9.879106e-01	0	7	0	20	0	116	414
RAB38	23682	broad.mit.edu	37	11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	40					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	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)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622																																						ENST00000243662.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0				11						c.(118-120)gCc>gTc		RAB38, member RAS oncogene family							104.0	74.0	84.0					11																	87908434		2201	4299	6500	SO:0001583	missense	23682	0	0					g.chr11:87908434G>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.119C>T	chr11.hg19:g.87908434G>A	ENSP00000243662:p.Ala40Val	0					MIR3166_ENST00000577344.1_RNA	p.A40V	NM_022337.2	NP_071732.1	1	2	3	1.991067	P57729	RAB38_HUMAN		1	201	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	1	1	hg19	c.119C>T	CCDS8281.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.023787|6.023787	0.97211|0.97211	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.80653|.	-1.4|.	5.2|5.2	5.2|5.2	0.72013|0.72013	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71414|.	0.973|.	T|T	0.63466|0.63466	-0.6631|-0.6631	9|5	.|.	.|.	.|.	-3.4587|-3.4587	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P57729|.	RAB38_HUMAN|.	V|S	40|57	ENSP00000243662:A40V|.	.|.	A|P	-|-	2|1	0|0	0|0	RAB38|RAB38	87548082|87548082	87548082|87548082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.538000|9.538000	0.98072|0.98072	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				31	30		183	183	1		1	1		0	0	58	0		1	6.649978e-01	0	5	0	10	0	31	183
GRM5	2915	broad.mit.edu	37	11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T	rs199674837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000305447.4	-	9	3036	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5_ENST00000305432.5_Missense_Mutation_p.A931T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	963					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)			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)	CCAGCGCCAGCGCCCAGGCCA	0.726																																						ENST00000305447.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				90						c.(2887-2889)Gct>Act		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						15.0	17.0	16.0					11																	88242512		1999	3959	5958	SO:0001583	missense	2915	0	0					g.chr11:88242512C>T	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.2887G>A	chr11.hg19:g.88242512C>T	ENSP00000306138:p.Ala963Thr	0					GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T	p.A963T	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		9	3036	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	1	1	hg19	c.2887G>A	CCDS44694.1	1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142761	0.06669	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29	3.95	2.03	0.26663	3.95	2.03	0.26663	.	.	.	.	.	T	0.68174	0.2972	N	0.08118	0	0.09310	N	1	B;B	0.28208	0.005;0.203	B;B	0.15052	0.002;0.012	T	0.55335	-0.8157	8	.	.	.	.	4.7756	0.13178	0.2113:0.6773:0.0:0.1114	.	931;963	P41594-2;P41594	.;GRM5_HUMAN	T	963;931;931;963	ENSP00000402912:A963T;ENSP00000405690:A931T;ENSP00000305905:A931T;ENSP00000306138:A963T	.	A	-	1	0	0	GRM5	87882160	87882160	.	.	0.110000	0.21437	0.016000	0.09150	.	.	0.600000	0.29862	0.563000	0.77884	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_000842			35	35		157	152	0		1			0	0	33	0		1	0	0	0	0	0	0	35	157
GRM5	2915	broad.mit.edu	37	11	88300355	88300355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000305447.4	-	7	2645	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000455756.2_Silent_p.N832N|GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	832					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)			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)	CGCTGCGCACGTTTCTCTCTG	0.567																																						ENST00000305447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(2494-2496)aaC>aaT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						139.0	108.0	118.0					11																	88300355		2201	4299	6500	SO:0001819	synonymous_variant	2915	0	0					g.chr11:88300355G>A	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.2496C>T	chr11.hg19:g.88300355G>A		0					GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N	p.N832N	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		7	2645	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Silent	SNP	ENST00000305447.4	1	1	hg19	c.2496C>T	CCDS44694.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	0		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_000842			74	74		286	285	1		1	0		0	0	88	0		1	0	0	0	0	1	0	74	286
GRM5	2915	broad.mit.edu	37	11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000305447.4	-	7	2558	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000455756.2_Missense_Mutation_p.C803W|GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	803					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)			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)	TGACCGAGAAACACATGGTGA	0.502																																						ENST00000305447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(2407-2409)tgT>tgG		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						147.0	125.0	132.0					11																	88300442		2201	4299	6500	SO:0001583	missense	2915	0	0					g.chr11:88300442A>C	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.2409T>G	chr11.hg19:g.88300442A>C	ENSP00000306138:p.Cys803Trp	0					GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W	p.C803W	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		7	2558	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	1	1	hg19	c.2409T>G	CCDS44694.1	1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892150	0.52014	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.58	-0.931	0.10438	5.58	-0.931	0.10438	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91364	0.5114	9	.	.	.	.	10.6791	0.45804	0.5453:0.0:0.4547:0.0	.	803;803	P41594-2;P41594	.;GRM5_HUMAN	W	803	ENSP00000402912:C803W;ENSP00000405690:C803W;ENSP00000305905:C803W;ENSP00000306138:C803W;ENSP00000376975:C803W	.	C	-	3	2	2	GRM5	87940090	87940090	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.133000	0.42093	-0.165000	0.10908	0.459000	0.35465	TGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_000842			89	89		399	397	1		1			0	0	94	0		1	0	0	0	0	0	0	89	399
GRM5	2915	broad.mit.edu	37	11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000305447.4	-	7	1936	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000455756.2_Missense_Mutation_p.F596S|GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	596					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)			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)	TACAGTAACAAACAGGGTGGC	0.517																																						ENST00000305447.4	1.000000	0.270000	7.300000e-01	3.800000e-01	0.530000	0.560774	0.530000	0.500000																										0				90						c.(1786-1788)tTt>tCt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						70.0	65.0	67.0					11																	88301064		2201	4299	6500	SO:0001583	missense	2915	0	0					g.chr11:88301064A>G	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.1787T>C	chr11.hg19:g.88301064A>G	ENSP00000306138:p.Phe596Ser	0					GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S	p.F596S	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		7	1936	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	1	1	hg19	c.1787T>C	CCDS44694.1	0	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445172	0.63178	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	5.71	0.89125	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	L	0.50333	1.59	0.51482	D	0.999926	D;D	0.76494	0.999;0.98	D;P	0.80764	0.994;0.828	D	0.91831	0.5475	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	596;596	P41594-2;P41594	.;GRM5_HUMAN	S	596	ENSP00000402912:F596S;ENSP00000405690:F596S;ENSP00000305905:F596S;ENSP00000306138:F596S;ENSP00000376975:F596S	.	F	-	2	0	0	GRM5	87940712	87940712	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	7.576000	0.82467	2.187000	0.69744	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-12.371310	1	0.170000	NM_000842			10	10		222	217	0		1			0	0	45	0		9.967206e-01	0	0	0	0	0	0	10	222
GRM5	2915	broad.mit.edu	37	11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000305447.4	-	3	1179	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000455756.2_Missense_Mutation_p.L344F|GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	344					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)			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)	TCTGGCCGGAGCTTCAGATAA	0.458																																						ENST00000305447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(1030-1032)Ctc>Ttc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						94.0	95.0	95.0					11																	88386453		2201	4299	6500	SO:0001583	missense	2915	0	0					g.chr11:88386453G>A	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.1030C>T	chr11.hg19:g.88386453G>A	ENSP00000306138:p.Leu344Phe	0					GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F	p.L344F	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		3	1179	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	1	1	hg19	c.1030C>T	CCDS44694.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.078044	0.94000	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.88	5.88	0.94601	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93388	0.6749	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	344;344	P41594-2;P41594	.;GRM5_HUMAN	F	344	ENSP00000402912:L344F;ENSP00000405690:L344F;ENSP00000305905:L344F;ENSP00000306138:L344F;ENSP00000376975:L344F	.	L	-	1	0	0	GRM5	88026101	88026101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_000842			66	65		305	296	1		1			0	0	67	0		1	0	0	0	0	0	0	66	305
GRM5	2915	broad.mit.edu	37	11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000305447.4	-	1	607	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	153					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)			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)	AATGGCTACAGAACTGGAGCC	0.502																																						ENST00000305447.4	1.000000	0.750000	1	9.100000e-01	0.990000	0.969006	0.990000	1.000000																										0				90						c.(457-459)tCt>tAt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)|Rufinamide(DB06201)						58.0	54.0	55.0					11																	88780583		2201	4299	6500	SO:0001583	missense	2915	0	0					g.chr11:88780583G>T	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.458C>A	chr11.hg19:g.88780583G>T	ENSP00000306138:p.Ser153Tyr	0					GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y	p.S153Y	NM_001143831.2	NP_001137303.1	1	2	3	1.991067	P41594	GRM5_HUMAN		1	607	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	1	1	hg19	c.458C>A	CCDS44694.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341825	0.81911	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.93017	0.6437	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	153;153;153	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Y	153	ENSP00000402912:S153Y;ENSP00000405690:S153Y;ENSP00000305905:S153Y;ENSP00000306138:S153Y;ENSP00000376975:S153Y;ENSP00000376972:S153Y	.	S	-	2	0	0	GRM5	88420231	88420231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.514000	0.84764	0.563000	0.77884	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_000842			29	29		284	280	0		1			0	0	61	0		1	0	0	0	0	0	0	29	284
TYR	7299	broad.mit.edu	37	11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	320					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGATGTAGAATTTTGCCTGAG	0.438																																						ENST00000263321.5	1.000000	0.390000	6.600000e-01	4.700000e-01	0.550000	0.578701	0.550000	0.550000																										0				48						c.(958-960)Ttt>Gtt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)						118.0	116.0	116.0					11																	88924508		2201	4299	6500	SO:0001583	missense	7299	0	0					g.chr11:88924508T>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.958T>G	chr11.hg19:g.88924508T>G	ENSP00000263321:p.Phe320Val	0					TYR_ENST00000526139.1_3'UTR	p.F320V	NM_000372.4	NP_000363.1	1	2	3	1.991067	P14679	TYRO_HUMAN		2	1460	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	1	1	hg19	c.958T>G	CCDS8284.1	0	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147879	0.37923	.	.	ENSG00000077498	ENST00000263321	D	0.97232	-4.3	5.37	3.02	0.34903	5.37	3.02	0.34903	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.549024	0.22235	N	0.062768	D	0.95825	0.8641	M	0.88181	2.935	0.33538	D	0.594502	B	0.32653	0.379	B	0.31946	0.138	D	0.93974	0.7252	9	.	.	.	.	4.4972	0.11842	0.1436:0.1499:0.0:0.7065	.	320	P14679	TYRO_HUMAN	V	320	ENSP00000263321:F320V	.	F	+	1	0	0	TYR	88564156	88564156	1.000000	0.71417	0.826000	0.32828	0.966000	0.64601	3.802000	0.55553	0.348000	0.23949	0.533000	0.62120	TTT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	0		2	2	2	0		0	0	142		142	140	1	2.060000	-20.000000	1	0.170000	NM_000372			39	38		795	773	0		1			0	0	142	0		1	0	0	0	0	0	0	39	795
TYR	7299	broad.mit.edu	37	11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	341					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCAGCTTTAGAAATACACTG	0.368																																						ENST00000263321.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1021-1023)aGa>aTa		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)						93.0	95.0	94.0					11																	88924572		2201	4299	6500	SO:0001583	missense	7299	0	0					g.chr11:88924572G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1022G>T	chr11.hg19:g.88924572G>T	ENSP00000263321:p.Arg341Ile	0					TYR_ENST00000526139.1_3'UTR	p.R341I	NM_000372.4	NP_000363.1	1	2	3	1.991067	P14679	TYRO_HUMAN		2	1524	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	1	1	hg19	c.1022G>T	CCDS8284.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383941	0.82792	.	.	ENSG00000077498	ENST00000263321	D	0.97378	-4.36	5.59	4.68	0.58851	5.59	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.045357	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	9	.	.	.	.	14.4613	0.67450	0.0705:0.0:0.9294:0.0	.	341	P14679	TYRO_HUMAN	I	341	ENSP00000263321:R341I	.	R	+	2	0	0	TYR	88564220	88564220	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.273000	0.95719	1.370000	0.46153	0.655000	0.94253	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	0		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000	NM_000372			139	138		573	559	1		1			0	0	147	0		1	0	0	0	0	0	0	139	573
TYR	7299	broad.mit.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGAAGGCACCGTCCTCTTCAA	0.383																																						ENST00000263321.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48	GRCh37	CM041480	TYR	M		c.(1213-1215)cGt>cAt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)						65.0	66.0	65.0					11																	89017970		2201	4299	6500	SO:0001583	missense	7299	9	121398	39				g.chr11:89017970G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1214G>A	chr11.hg19:g.89017970G>A	ENSP00000263321:p.Arg405His	0						p.R405H	NM_000372.4	NP_000363.1	1	2	3	1.991067	P14679	TYRO_HUMAN		4	1716	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	1	1	hg19	c.1214G>A	CCDS8284.1	1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	0	TYR	88657618	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.138834	1	0.170000	NM_000372			61	59		262	255	1		1			0	0	65	0		1	0	0	0	0	0	0	61	262
TYR	7299	broad.mit.edu	37	11	89028501	89028501	+	Silent	SNP	G	G	A	rs563119570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	ENST00000263321.5	+	5	2059	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	519					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGAGAAAGAGGATTACCACA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17684	0.001		0.0	False		,,,				2504	0.0					ENST00000263321.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999258	0.990000	1.000000																										0				48						c.(1555-1557)gaG>gaA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)						13.0	15.0	14.0					11																	89028501		2143	4217	6360	SO:0001819	synonymous_variant	7299	1	121112	25				g.chr11:89028501G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1557G>A	chr11.hg19:g.89028501G>A		0						p.E519E	NM_000372.4	NP_000363.1	1	2	3	1.991067	P14679	TYRO_HUMAN		5	2059	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	0	1	hg19	c.1557G>A	CCDS8284.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	0	0	1		2	2	2	0		0	0	27		27	51	1	2.060000	-20.000000	1	0.170000	NM_000372			23	14		142	104	0		1			0	0	27	0		9.999858e-01	0	0	0	0	0	0	23	142
NOX4	50507	broad.mit.edu	37	11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000263317.4	-	11	1269	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000535633.1_Missense_Mutation_p.P320L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	344	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				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)			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)				AGATACACTGGGACAATGTAG	0.303																																						ENST00000263317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1030-1032)cCc>cTc		NADPH oxidase 4							86.0	87.0	86.0					11																	89133228		2201	4298	6499	SO:0001583	missense	50507	0	0					g.chr11:89133228G>A	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.1031C>T	chr11.hg19:g.89133228G>A	ENSP00000263317:p.Pro344Leu	0					NOX4_ENST00000535633.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron	p.P344L			1	2	3	1.991067	Q9NPH5	NOX4_HUMAN		11	1269	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	1	1	hg19	c.1031C>T	CCDS8285.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228728	0.79576	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.77	4.77	0.60923	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.994;0.997	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.971;0.968	T	0.35798	-0.9774	9	.	.	.	-11.8467	18.1413	0.89641	0.0:0.0:1.0:0.0	.	320;178;319;344;344	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	320;320;320;344;344;320;320;320;178;319;365	ENSP00000412446:P320L;ENSP00000440172:P320L;ENSP00000344747:P320L;ENSP00000436892:P344L;ENSP00000263317:P344L;ENSP00000434924:P320L;ENSP00000433797:P320L;ENSP00000439373:P320L;ENSP00000436093:P178L;ENSP00000436970:P319L;ENSP00000405705:P365L	.	P	-	2	0	0	NOX4	88772876	88772876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.362000	0.80069	0.561000	0.74099	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-3.181079	1	0.170000	NM_016931			46	46		211	206	1		1	0		0	0	49	0		1	9.947227e-01	0	0	0	40	0	46	211
FOLH1B	219595	broad.mit.edu	37	11	89385740	89385740	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89385740C>A	ENST00000532352.1	+	0	377							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAGTGCTTTCTCTCCT	0.338																																						ENST00000532352.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48								folate hydrolase 1B																																						219595	0	0					g.chr11:89385740C>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		chr11.hg19:g.89385740C>A		0									1	2	3	1.991067	Q9HBA9	FOH1B_HUMAN		0	377	+				RNA	SNP	ENST00000532352.1	1	1	hg19			1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	0	1		2	2	2	0		0	0	64		64	66	1	2.060000	-20.000000	1	0.170000	NM_153696			63	60		304	288	0		1			0	0	64	0		1	0	0	0	0	0	0	63	304
FOLH1B	219595	broad.mit.edu	37	11	89424667	89424667	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89424667C>T	ENST00000532352.1	+	0	1830							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAAGTTCAGCGAGAGACTCC	0.279																																						ENST00000532352.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998451	0.990000	1.000000																										0				48								folate hydrolase 1B							59.0	60.0	60.0					11																	89424667		2201	4294	6495			219595	4	121394	33				g.chr11:89424667C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		chr11.hg19:g.89424667C>T		0									1	2	3	1.991067	Q9HBA9	FOH1B_HUMAN		0	1830	+				RNA	SNP	ENST00000532352.1	0	1	hg19			1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	0	1		2	2	2	0		0	0	44		44	45	1	2.060000	-3.319805	1	0.170000	NM_153696			27	22		189	175	0		1			0	0	44	0		9.999999e-01	0	0	0	0	0	0	27	189
TRIM49	57093	broad.mit.edu	37	11	89537566	89537566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	ENST00000329758.1	-	3	400	c.72C>T	c.(70-72)gaC>gaT	p.D24D	TRIM49_ENST00000532501.2_Silent_p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	24						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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)				TGGTGACCGGGTCTATGAAGT	0.468																																						ENST00000329758.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				27						c.(70-72)gaC>gaT		tripartite motif containing 49							23.0	22.0	22.0					11																	89537566		2186	4270	6456	SO:0001819	synonymous_variant	57093	0	0					g.chr11:89537566G>A	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.72C>T	chr11.hg19:g.89537566G>A		0					TRIM49_ENST00000532501.2_Silent_p.D24D	p.D24D	NM_020358.2	NP_065091.1	1	2	3	1.991067	P0CI25	TRI49_HUMAN		3	400	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	0	1	hg19	c.72C>T	CCDS8287.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	0	0	1		2	2	2	0		0	0	80		80	138	1	2.060000	-20.000000	1	0.170000	NM_020358			49	21		328	165	0		1			0	0	80	0		1	0	0	0	0	0	0	49	328
NAALAD2	10003	broad.mit.edu	37	11	89868815	89868815	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000534061.1	+	2	401	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A|NAALAD2_ENST00000375944.3_Silent_p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	57					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333																																						ENST00000534061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(169-171)gcT>gcC		N-acetylated alpha-linked acidic dipeptidase 2							110.0	111.0	111.0					11																	89868815		2201	4299	6500	SO:0001819	synonymous_variant	10003	0	0					g.chr11:89868815T>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.171T>C	chr11.hg19:g.89868815T>C		0					NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A	p.A57A	NM_005467.3	NP_005458.1	1	2	3	1.991067	Q9Y3Q0	NALD2_HUMAN		2	401	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	1	1	hg19	c.171T>C	CCDS8288.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_005467			45	45		207	198	1		1	0		0	0	59	0		1	3.311887e-02	0	0	0	2	0	45	207
NAALAD2	10003	broad.mit.edu	37	11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000534061.1	+	4	624	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A|NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	132					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323																																						ENST00000534061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(394-396)Tca>Gca		N-acetylated alpha-linked acidic dipeptidase 2							90.0	92.0	92.0					11																	89882186		2199	4296	6495	SO:0001583	missense	10003	0	0					g.chr11:89882186T>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.394T>G	chr11.hg19:g.89882186T>G	ENSP00000432481:p.Ser132Ala	0					NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A	p.S132A	NM_005467.3	NP_005458.1	1	2	3	1.991067	Q9Y3Q0	NALD2_HUMAN		4	624	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	1	1	hg19	c.394T>G	CCDS8288.1	1	.	.	.	.	.	.	.	.	.	.	T	7.130	0.579740	0.13686	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.37	2.96	0.34315	5.37	2.96	0.34315	.	0.199984	0.34906	N	0.003590	T	0.33760	0.0874	L	0.48877	1.53	0.53688	D	0.999974	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004	B;B;B;B;B	0.17098	0.004;0.011;0.001;0.014;0.017	T	0.07693	-1.0759	9	.	.	.	-7.6689	10.4162	0.44322	0.2791:0.0:0.0:0.7209	.	132;132;132;132;132	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	132;132;132;132;78	ENSP00000432481:S132A;ENSP00000320083:S132A;ENSP00000435249:S132A;ENSP00000365111:S132A;ENSP00000435670:S78A	.	S	+	1	0	0	NAALAD2	89521834	89521834	0.997000	0.39634	0.260000	0.24451	0.007000	0.05969	3.312000	0.51927	0.305000	0.22832	0.451000	0.29950	TCA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_005467			123	120		459	448	1		1			0	0	145	0		1	0	0	0	0	0	0	123	459
NAALAD2	10003	broad.mit.edu	37	11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	461	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313																																						ENST00000534061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1381-1383)tAc>tGc		N-acetylated alpha-linked acidic dipeptidase 2							103.0	113.0	110.0					11																	89903276		2199	4289	6488	SO:0001583	missense	10003	0	0					g.chr11:89903276A>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1382A>G	chr11.hg19:g.89903276A>G	ENSP00000432481:p.Tyr461Cys	0					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	p.Y461C	NM_005467.3	NP_005458.1	1	2	3	1.991067	Q9Y3Q0	NALD2_HUMAN		13	1612	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	1	1	hg19	c.1382A>G	CCDS8288.1	1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308005	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40476	1.03;1.03	5.78	4.64	0.57946	5.78	4.64	0.57946	Peptidase M28 (1);	0.584174	0.17427	N	0.174618	T	0.59514	0.2199	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.57021	-0.7882	9	.	.	.	0.0033	12.3408	0.55093	0.8733:0.0:0.0:0.1267	.	461	Q9Y3Q0	NALD2_HUMAN	C	461;428	ENSP00000432481:Y461C;ENSP00000320083:Y428C	.	Y	+	2	0	0	NAALAD2	89542924	89542924	1.000000	0.71417	0.320000	0.25306	0.309000	0.27889	6.826000	0.75298	1.011000	0.39340	0.454000	0.30748	TAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_005467			76	76		364	362	1		1	0		0	0	129	0		1	1.422029e-01	0	0	0	4	0	76	364
FAT3	120114	broad.mit.edu	37	11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000298047.6	+	1	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	179	Cadherin 2. {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)			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)				AGTGTTGCCCAGGTGACTGCA	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(535-537)cAg>cGg		FAT atypical cadherin 3							64.0	63.0	64.0					11																	92085814		1878	4123	6001	SO:0001583	missense	120114	0	0					g.chr11:92085814A>G	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.536A>G	chr11.hg19:g.92085814A>G	ENSP00000298047:p.Gln179Arg	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R	p.Q179R			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		1	553	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.536A>G		1	.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633542	0.03584	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.26	5.26	0.73747	5.26	5.26	0.73747	.	.	.	.	.	T	0.30696	0.0773	N	0.16233	0.39	0.32415	N	0.550188	B	0.25105	0.118	B	0.26969	0.075	T	0.19778	-1.0295	9	0.06494	T	0.89	.	14.6575	0.68844	1.0:0.0:0.0:0.0	.	179	Q8TDW7-3	.	R	179;179;179;29	ENSP00000298047:Q179R;ENSP00000387040:Q179R;ENSP00000443786:Q179R;ENSP00000432586:Q29R	ENSP00000298047:Q179R	Q	+	2	0	0	FAT3	91725462	91725462	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.197000	0.65141	2.108000	0.64289	0.533000	0.62120	CAG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_001008781			52	52		227	221	1		1	0		0	0	71	0		1	0	0	0	0	1	0	52	227
FAT3	120114	broad.mit.edu	37	11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000298047.6	+	1	3066	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1017	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				AGACAAAGGGCGGCCTGTCTC	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.290000	8.300000e-01	4.200000e-01	0.590000	0.623977	0.590000	1.000000																										0				85						c.(3049-3051)Cgg>Tgg		FAT atypical cadherin 3							87.0	88.0	88.0					11																	92088327		1940	4144	6084	SO:0001583	missense	120114	1	120844	16				g.chr11:92088327C>T	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.3049C>T	chr11.hg19:g.92088327C>T	ENSP00000298047:p.Arg1017Trp	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W	p.R1017W			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		1	3066	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.3049C>T		0	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738915	0.49045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	4.9	0.64082	5.82	4.9	0.64082	.	.	.	.	.	T	0.60379	0.2264	L	0.46670	1.46	0.35678	D	0.813842	D	0.89917	1.0	D	0.70935	0.971	T	0.70737	-0.4790	9	0.62326	D	0.03	.	13.1108	0.59273	0.2917:0.7083:0.0:0.0	.	1017	Q8TDW7-3	.	W	1017;1017;1017;867	ENSP00000298047:R1017W;ENSP00000387040:R1017W;ENSP00000443786:R1017W;ENSP00000432586:R867W	ENSP00000298047:R1017W	R	+	1	2	2	FAT3	91727975	91727975	0.951000	0.32395	1.000000	0.80357	1.000000	0.99986	1.969000	0.40510	1.452000	0.47756	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-4.020156	1	0.170000	NM_001008781			9	9		177	170	0		1	0		0	0	31	0		9.935237e-01	0	0	0	0	1	0	9	177
FAT3	120114	broad.mit.edu	37	11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000298047.6	+	2	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D	FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1191	Cadherin 11. {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)			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)				TACAAGTGGAAATCCTCAGAA	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(3571-3573)Aat>Gat		FAT atypical cadherin 3							43.0	43.0	43.0					11																	92258078		1843	4098	5941	SO:0001583	missense	120114	0	0					g.chr11:92258078A>G	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.3571A>G	chr11.hg19:g.92258078A>G	ENSP00000298047:p.Asn1191Asp	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D	p.N1191D			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		2	3588	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.3571A>G		1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774069	0.90108	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.53	5.53	0.82687	5.53	5.53	0.82687	.	.	.	.	.	T	0.63367	0.2505	L	0.49513	1.565	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.62732	-0.6792	9	0.44086	T	0.13	.	15.6674	0.77242	1.0:0.0:0.0:0.0	.	1191	Q8TDW7-3	.	D	1191;1191;1191;1041	ENSP00000298047:N1191D;ENSP00000387040:N1191D;ENSP00000443786:N1191D;ENSP00000432586:N1041D	ENSP00000298047:N1191D	N	+	1	0	0	FAT3	91897726	91897726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.112000	0.64535	0.455000	0.32223	AAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_001008781			39	39		175	172	1		1			0	0	43	0		1	0	0	0	0	0	0	39	175
FAT3	120114	broad.mit.edu	37	11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000298047.6	+	9	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1753	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)			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)				GCTTCCAATGCTACAGTCAAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.260000	7.100000e-01	3.700000e-01	0.510000	0.544032	0.510000	0.490000																										0				85						c.(5257-5259)gCt>gAt		FAT atypical cadherin 3							64.0	62.0	62.0					11																	92531437		1936	4128	6064	SO:0001583	missense	120114	0	0					g.chr11:92531437C>A	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.5258C>A	chr11.hg19:g.92531437C>A	ENSP00000298047:p.Ala1753Asp	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D	p.A1753D			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		9	5275	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.5258C>A		0	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789713	0.70337	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.93	3.93	0.45458	5.93	3.93	0.45458	.	.	.	.	.	T	0.69753	0.3146	H	0.94222	3.51	0.80722	D	1	P	0.51147	0.942	P	0.48795	0.59	T	0.77178	-0.2683	9	0.72032	D	0.01	.	12.0978	0.53765	0.0:0.894:0.0:0.106	.	1753	Q8TDW7-3	.	D	1753;1753;1603	ENSP00000298047:A1753D;ENSP00000387040:A1753D;ENSP00000432586:A1603D	ENSP00000298047:A1753D	A	+	2	0	0	FAT3	92171085	92171085	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	2.661000	0.46758	0.711000	0.32018	0.591000	0.81541	GCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	50	1	2.060000	-4.268218	1	0.170000	NM_001008781			10	10		230	223	0		1	0		0	0	53	0		9.965794e-01	2.244669e-03	0	0	0	2	0	10	230
FAT3	120114	broad.mit.edu	37	11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000298047.6	+	9	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2542	Cadherin 23. {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)			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)				CTTTGCCAAGGATCGATTCCT	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				85						c.(7624-7626)Gat>Aat		FAT atypical cadherin 3							48.0	48.0	48.0					11																	92533803		2061	4203	6264	SO:0001583	missense	120114	0	0					g.chr11:92533803G>A	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.7624G>A	chr11.hg19:g.92533803G>A	ENSP00000298047:p.Asp2542Asn	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N	p.D2542N			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		9	7641	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.7624G>A		1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981542	0.74474	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.95	5.04	0.67666	5.95	5.04	0.67666	.	.	.	.	.	T	0.44159	0.1280	L	0.33485	1.01	0.80722	D	1	B	0.29766	0.256	B	0.25140	0.058	T	0.37911	-0.9685	9	0.39692	T	0.17	.	10.5916	0.45312	0.0684:0.1337:0.7978:0.0	.	2542	Q8TDW7-3	.	N	2542;2542;2392	ENSP00000298047:D2542N;ENSP00000387040:D2542N;ENSP00000432586:D2392N	ENSP00000298047:D2542N	D	+	1	0	0	FAT3	92173451	92173451	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	1.511000	0.48818	0.655000	0.94253	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_001008781			29	29		107	105	1		1			0	0	35	0		1	0	0	0	0	0	0	29	107
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T	rs372331075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24. {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)			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)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20023	0.001		0.0	False		,,,				2504	0.0					ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998983	0.990000	1.000000																										0				85						c.(7879-7881)ccC>ccT		FAT atypical cadherin 3		C		0,3886		0,0,1943	41.0	40.0	41.0		7881	-8.9	1.0	11		41	3,8291		0,3,4144	no	coding-synonymous	FAT3	NM_001008781.2		0,3,6087	TT,TC,CC		0.0362,0.0,0.0246		2627/4558	92534060	3,12177	1943	4147	6090	SO:0001819	synonymous_variant	120114	9	120868	36				g.chr11:92534060C>T	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.7881C>T	chr11.hg19:g.92534060C>T		0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P	p.P2627P			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		9	7898	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	1	1	hg19	c.7881C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	16	1	2.060000	-2.450402	0	0.170000	NM_001008781			16	16		86	83	1		1	0		0	0	18	0		9.999469e-01	0	0	0	0	1	0	16	86
FAT3	120114	broad.mit.edu	37	11	92534276	92534276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000298047.6	+	9	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L	FAT3_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2699	Cadherin 24. {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)			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)				TCCACGTCTTGCCCCCTGAAA	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				85						c.(8095-8097)ttG>ttA		FAT atypical cadherin 3							70.0	66.0	67.0					11																	92534276		1960	4149	6109	SO:0001819	synonymous_variant	120114	1	120876	30				g.chr11:92534276G>A	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.8097G>A	chr11.hg19:g.92534276G>A		0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L	p.L2699L			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		9	8114	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	1	1	hg19	c.8097G>A		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-14.999350	1	0.170000	NM_001008781			29	28		166	162	1		1	0		0	0	47	0		1	0	0	0	0	1	0	29	166
FAT3	120114	broad.mit.edu	37	11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000298047.6	+	9	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V	FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2704	Cadherin 24. {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)			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)				CCCTGAAACGTTCTTGCCATC	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				85						c.(8110-8112)Ttc>Gtc		FAT atypical cadherin 3							72.0	68.0	70.0					11																	92534289		1964	4151	6115	SO:0001583	missense	120114	0	0					g.chr11:92534289T>G	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.8110T>G	chr11.hg19:g.92534289T>G	ENSP00000298047:p.Phe2704Val	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V	p.F2704V			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		9	8127	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	1	hg19	c.8110T>G		1	.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115509	0.06881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	-2.07	0.07276	6.08	-2.07	0.07276	.	.	.	.	.	T	0.31009	0.0783	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15952	T	0.53	.	3.0455	0.06152	0.1513:0.4275:0.2181:0.2031	.	2704	Q8TDW7-3	.	V	2704;2704;2554	ENSP00000298047:F2704V;ENSP00000387040:F2704V;ENSP00000432586:F2554V	ENSP00000298047:F2704V	F	+	1	0	0	FAT3	92173937	92173937	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.105000	0.15333	-0.283000	0.09115	-0.326000	0.08463	TTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001008781			32	31		173	169	1		1	0		0	0	49	0		1	0	0	0	0	1	0	32	173
FAT3	120114	broad.mit.edu	37	11	92577129	92577129	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000298047.6	+	18	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000409404.2_Silent_p.V3532V|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3532	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				CCCAGCAAGTTTCTCACACTT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(10594-10596)gtT>gtG		FAT atypical cadherin 3							169.0	164.0	166.0					11																	92577129		1920	4135	6055	SO:0001819	synonymous_variant	120114	0	0					g.chr11:92577129T>G	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.10596T>G	chr11.hg19:g.92577129T>G		0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000409404.2_Silent_p.V3532V	p.V3532V			1	2	3	1.991067	Q8TDW7	FAT3_HUMAN		18	10613	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	1	1	hg19	c.10596T>G		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	215		215	212	1	2.060000	-20.000000	1	0.170000	NM_001008781			184	181		807	791	1		1			0	0	215	0		1	0	0	0	0	0	0	184	807
MTNR1B	4544	broad.mit.edu	37	11	92702921	92702921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	10					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741																																						ENST00000257068.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(28-30)tgC>tgT		melatonin receptor 1B	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)						7.0	8.0	8.0					11																	92702921		1931	3852	5783	SO:0001819	synonymous_variant	4544	0	0					g.chr11:92702921C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.30C>T	chr11.hg19:g.92702921C>T		0						p.C10C	NM_005959.3	NP_005950.1	1	2	3	1.991067	P49286	MTR1B_HUMAN		1	36	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		Silent	SNP	ENST00000257068.2	1	1	hg19	c.30C>T	CCDS8290.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000				32	31		113	111	0		1			0	0	15	0		1	0	0	0	0	0	0	32	113
SLC36A4	120103	broad.mit.edu	37	11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000326402.4	-	7	747	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	206					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			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)				TAGGTCAACACTTCTTCTCTC	0.343																																						ENST00000326402.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(616-618)aGt>aAt		solute carrier family 36 (proton/amino acid symporter), member 4							127.0	126.0	126.0					11																	92901261		2201	4296	6497	SO:0001583	missense	120103	0	0					g.chr11:92901261C>T	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.617G>A	chr11.hg19:g.92901261C>T	ENSP00000317382:p.Ser206Asn	0					SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	p.S206N	NM_152313.2	NP_689526.2	1	2	3	1.991067	Q6YBV0	S36A4_HUMAN		7	747	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	1	1	hg19	c.617G>A	CCDS8291.1	1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052602	0.36181	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02301	4.35;4.35;4.35	5.47	2.57	0.30868	5.47	2.57	0.30868	.	0.178651	0.51477	N	0.000097	T	0.01940	0.0061	N	0.24115	0.695	0.24548	N	0.994039	B	0.15141	0.012	B	0.25614	0.062	T	0.46693	-0.9173	10	0.28530	T	0.3	-9.6457	8.2408	0.31658	0.0:0.5642:0.2946:0.1412	.	206	Q6YBV0	S36A4_HUMAN	N	206;71;100	ENSP00000317382:S206N;ENSP00000436570:S71N;ENSP00000432061:S100N	ENSP00000317382:S206N	S	-	2	0	0	SLC36A4	92540909	92540909	0.323000	0.24643	0.996000	0.52242	0.996000	0.88848	0.337000	0.19841	0.275000	0.22094	0.650000	0.86243	AGT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2	0	0	1		16	4	2	1		1	1	74		74	74	1	2.060000	-20.000000	1	0.170000				55	55		299	295	1		1	1		1	0	74	0		9.999998e-01	9.331294e-01	0	8	0	38	0	55	299
SLC36A4	120103	broad.mit.edu	37	11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000326402.4	-	3	329	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	67					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			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)				TTAAGAAGGTGCATAAGAGTT	0.313																																						ENST00000326402.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(199-201)Cac>Tac		solute carrier family 36 (proton/amino acid symporter), member 4							143.0	149.0	147.0					11																	92917667		2201	4298	6499	SO:0001583	missense	120103	0	0					g.chr11:92917667G>A	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.199C>T	chr11.hg19:g.92917667G>A	ENSP00000317382:p.His67Tyr	0					SLC36A4_ENST00000529184.1_5'UTR	p.H67Y	NM_152313.2	NP_689526.2	1	2	3	1.991067	Q6YBV0	S36A4_HUMAN		3	329	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	1	1	hg19	c.199C>T	CCDS8291.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390349	0.82902	.	.	ENSG00000180773	ENST00000326402	T	0.02472	4.28	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	10	0.87932	D	0	-18.8948	20.2544	0.98414	0.0:0.0:1.0:0.0	.	67	Q6YBV0	S36A4_HUMAN	Y	67	ENSP00000317382:H67Y	ENSP00000317382:H67Y	H	-	1	0	0	SLC36A4	92557315	92557315	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CAC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000				142	141		535	527	1		1	1		0	0	136	0		1	9.294708e-01	0	2	0	17	0	142	535
TAF1D	79101	broad.mit.edu	37	11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I	TAF1D_ENST00000546088.1_5'Flank|SNORA40_ENST00000388090.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	129					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398																																						ENST00000448108.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(385-387)aGa>aTa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							120.0	125.0	123.0					11																	93471348		2201	4298	6499	SO:0001583	missense	79101	0	0					g.chr11:93471348C>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.386G>T	chr11.hg19:g.93471348C>A	ENSP00000410409:p.Arg129Ile	0					SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	p.R129I	NM_024116.3	NP_077021.1	1	2	3	1.991067	Q9H5J8	TAF1D_HUMAN		3	1036	-			Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	1	1	hg19	c.386G>T	CCDS8293.1	1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596396	0.28445	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	-2.84	0.05751	5.45	-2.84	0.05751	.	0.438594	0.22677	N	0.056993	T	0.24774	0.0601	L	0.38175	1.15	0.09310	N	0.999996	P	0.47302	0.893	B	0.40825	0.341	T	0.26538	-1.0100	9	0.72032	D	0.01	-5.3265	10.8645	0.46847	0.0:0.501:0.0:0.499	.	129	Q9H5J8	TAF1D_HUMAN	I	129	.	ENSP00000314971:R129I	R	-	2	0	0	TAF1D	93110996	93110996	0.082000	0.21442	0.002000	0.10522	0.002000	0.02628	-0.278000	0.08490	-0.669000	0.05289	-1.934000	0.00508	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-3.229040	1	0.170000	NM_024116			125	125		616	608	1		1	1		0	0	112	0		1	1	0	60	0	146	0	125	616
C11orf54	28970	broad.mit.edu	37	11	93487188	93487188	+	Silent	SNP	C	C	T	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000331239.4	+	5	494	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000528288.1_Silent_p.L105L|C11orf54_ENST00000354421.3_Silent_p.L105L			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353																																						ENST00000331239.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(313-315)ctC>ctT		chromosome 11 open reading frame 54							83.0	94.0	90.0					11																	93487188		2195	4297	6492	SO:0001819	synonymous_variant	28970	4	121394	46				g.chr11:93487188C>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.315C>T	chr11.hg19:g.93487188C>T		0					C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000528288.1_Silent_p.L105L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L	p.L105L			1	2	3	1.991067	Q9H0W9	CK054_HUMAN		5	494	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	1	1	hg19	c.315C>T		1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-2.698132	1	0.170000	NM_014039			108	108		533	528	1		1	1		0	0	115	0		1	1	0	55	0	80	0	108	533
MED17	9440	broad.mit.edu	37	11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303																																						ENST00000251871.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(691-693)Gat>Aat		mediator complex subunit 17		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	71.0	73.0	73.0		691	5.5	1.0	11	dbSNP_134	73	0,8592		0,0,4296	no	missense	MED17	NM_004268.4	23	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	231/652	93526947	1,12993	2201	4296	6497	SO:0001583	missense	9440	0	0					g.chr11:93526947G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.691G>A	chr11.hg19:g.93526947G>A	ENSP00000251871:p.Asp231Asn	0						p.D231N	NM_004268.4	NP_004259.3	1	2	3	1.991067	Q9NVC6	MED17_HUMAN		4	978	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	1	1	hg19	c.691G>A	CCDS8295.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652685	0.88056	2.27E-4	0.0	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.54675	0.56;0.56	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.70046	0.3179	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65092	-0.6252	10	0.28530	T	0.3	-24.2179	19.3299	0.94281	0.0:0.0:1.0:0.0	.	231	Q9NVC6	MED17_HUMAN	N	231;201;123	ENSP00000251871:D231N;ENSP00000433626:D123N	ENSP00000251871:D231N	D	+	1	0	0	MED17	93166595	93166595	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.814000	0.86154	2.591000	0.87537	0.655000	0.94253	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.410702	1	0.170000	NM_004268			40	39		173	168	1		1	1		0	0	58	0		1	9.999988e-01	0	30	0	65	0	40	173
MED17	9440	broad.mit.edu	37	11	93529577	93529577	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333																																						ENST00000251871.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1012-1014)agC>agT		mediator complex subunit 17							142.0	144.0	144.0					11																	93529577		2201	4298	6499	SO:0001630	splice_region_variant	9440	0	0					g.chr11:93529577C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1013-1C>T	chr11.hg19:g.93529577C>T		0					MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	p.S338S	NM_004268.4	NP_004259.3	1	2	3	1.991067	Q9NVC6	MED17_HUMAN		7	1301	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Splice_Site	SNP	ENST00000251871.3	1	0	hg19	c.1014C>T	CCDS8295.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_004268	Silent		70	69		382	375	1		1	1		0	0	82	0		1	9.999548e-01	0	6	0	75	0	70	382
MED17	9440	broad.mit.edu	37	11	93540697	93540697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93540697C>T	ENST00000251871.3	+	10	1767	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	494					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTCAACTGCAATTGAATAT	0.323																																						ENST00000251871.3	1.000000	0.160000	4.800000e-01	2.400000e-01	0.340000	0.380482	0.340000	0.330000																										0				14						c.(1480-1482)Caa>Taa		mediator complex subunit 17							116.0	113.0	114.0					11																	93540697		2201	4298	6499	SO:0001587	stop_gained	9440	0	0					g.chr11:93540697C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1480C>T	chr11.hg19:g.93540697C>T	ENSP00000251871:p.Gln494*	0					MED17_ENST00000533367.1_3'UTR	p.Q494*	NM_004268.4	NP_004259.3	1	2	3	1.991067	Q9NVC6	MED17_HUMAN		10	1767	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Nonsense_Mutation	SNP	ENST00000251871.3	0	1	hg19	c.1480C>T	CCDS8295.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.783231	0.98952	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.875	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	494;464	.	ENSP00000251871:Q494X	Q	+	1	0	0	MED17	93180345	93180345	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.617000	0.83032	2.873000	0.98535	0.563000	0.77884	CAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.509419	1	0.170000	NM_004268			9	9		316	310	0		1	1		0	0	67	0		9.938865e-01	6.998523e-01	0	2	0	83	0	9	316
HEPHL1	341208	broad.mit.edu	37	11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T	rs188507582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	508	Plastocyanin-like 3.				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)			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)				AAACCAGGGGCGCATGTTAAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20863	0.0		0.001	False		,,,				2504	0.0					ENST00000315765.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999852	0.990000	1.000000																										0				61						c.(1522-1524)gCg>gTg		hephaestin-like 1							65.0	60.0	62.0					11																	93808358		1947	4144	6091	SO:0001583	missense	341208	1	120802	32				g.chr11:93808358C>T	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.1523C>T	chr11.hg19:g.93808358C>T	ENSP00000313699:p.Ala508Val	0						p.A508V	NM_001098672.1	NP_001092142.1	1	2	3	1.991067	Q6MZM0	HPHL1_HUMAN		9	1531	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	1	1	hg19	c.1523C>T	CCDS44710.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.80	2.642441	0.47153	.	.	ENSG00000181333	ENST00000315765	D	0.99470	-5.96	5.46	5.46	0.80206	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.112238	0.64402	D	0.000014	D	0.98337	0.9448	L	0.56769	1.78	0.46954	D	0.999266	P	0.35872	0.525	B	0.32583	0.148	D	0.99968	1.1900	10	0.19590	T	0.45	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	508	Q6MZM0	HPHL1_HUMAN	V	508	ENSP00000313699:A508V	ENSP00000313699:A508V	A	+	2	0	0	HEPHL1	93448006	93448006	1.000000	0.71417	0.959000	0.39883	0.802000	0.45316	5.618000	0.67722	2.548000	0.85928	0.650000	0.86243	GCG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-13.311650	1	0.170000	XM_291947			20	20		96	95	1		1			0	0	19	0		9.999973e-01	0	0	0	0	0	0	20	96
HEPHL1	341208	broad.mit.edu	37	11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	592	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)			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)				AATCTGAGCAGATATTTTGAT	0.358																																						ENST00000315765.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				61						c.(1774-1776)aGa>aAa		hephaestin-like 1							84.0	78.0	80.0					11																	93815642		1832	4086	5918	SO:0001583	missense	341208	0	0					g.chr11:93815642G>A	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.1775G>A	chr11.hg19:g.93815642G>A	ENSP00000313699:p.Arg592Lys	0						p.R592K	NM_001098672.1	NP_001092142.1	1	2	3	1.991067	Q6MZM0	HPHL1_HUMAN		10	1783	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	1	1	hg19	c.1775G>A	CCDS44710.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967790	0.53507	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.59	4.49	0.54785	5.59	4.49	0.54785	Cupredoxin (2);	0.400573	0.30036	N	0.010571	D	0.98292	0.9434	L	0.29908	0.895	0.23563	N	0.997405	B	0.14438	0.01	B	0.17098	0.017	D	0.95455	0.8538	10	0.54805	T	0.06	.	11.0203	0.47713	0.0777:0.0:0.79:0.1323	.	592	Q6MZM0	HPHL1_HUMAN	K	592	ENSP00000313699:R592K	ENSP00000313699:R592K	R	+	2	0	0	HEPHL1	93455290	93455290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.150000	0.64869	2.628000	0.89032	0.655000	0.94253	AGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	XM_291947			25	25		116	115	1		1			0	0	18	0		9.999999e-01	0	0	0	0	0	0	25	116
HEPHL1	341208	broad.mit.edu	37	11	93826709	93826709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	779	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)			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)				ATTGGATTGGCTCTCAGTACA	0.433																																						ENST00000315765.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2335-2337)ggC>ggT		hephaestin-like 1							190.0	184.0	186.0					11																	93826709		1870	4116	5986	SO:0001819	synonymous_variant	341208	0	0					g.chr11:93826709C>T	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.2337C>T	chr11.hg19:g.93826709C>T		0						p.G779G	NM_001098672.1	NP_001092142.1	1	2	3	1.991067	Q6MZM0	HPHL1_HUMAN		13	2345	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Q3C1W7	Silent	SNP	ENST00000315765.9	1	1	hg19	c.2337C>T	CCDS44710.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000	XM_291947			119	118		667	658	1		1			0	0	154	0		1	0	0	0	0	0	0	119	667
MRE11A	4361	broad.mit.edu	37	11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T	rs564511708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	498					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)			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)				ACCTCCTCATCGATTTTGTCT	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17938	0.0		0.0	False		,,,				2504	0.0					ENST00000323929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1492-1494)Gat>Aat	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							155.0	148.0	150.0					11																	94192582		2201	4298	6499	SO:0001583	missense	4361	2	121410	36	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	g.chr11:94192582C>T	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.1492G>A	chr11.hg19:g.94192582C>T	ENSP00000325863:p.Asp498Asn	0					MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N	p.D498N	NM_005591.3	NP_005582.1	1	2	3	1.991067	P49959	MRE11_HUMAN		13	1714	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	O43475	Missense_Mutation	SNP	ENST00000323929.3	1	1	hg19	c.1492G>A	CCDS8299.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273580	0.59649	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75821	-0.97;-0.97;-0.95;-0.97	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.61703	1.905	0.80722	D	1	B;B;B	0.21753	0.06;0.058;0.06	B;B;B	0.19148	0.016;0.024;0.022	T	0.67608	-0.5627	10	0.30854	T	0.27	-27.8191	20.0493	0.97618	0.0:1.0:0.0:0.0	.	501;498;498	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	N	498;501;498;498	ENSP00000325863:D498N;ENSP00000385614:D501N;ENSP00000326094:D498N;ENSP00000376933:D498N	ENSP00000325863:D498N	D	-	1	0	0	MRE11A	93832230	93832230	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	7.695000	0.84257	2.745000	0.94114	0.491000	0.48974	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.238327	1	0.170000	NM_005591			60	60		309	305	1		1	1		0	0	55	0		1	9.949537e-01	0	15	0	29	0	60	309
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				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)				AACAAAAGGCCTCTTGACCCC	0.493																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(520-522)Ctc>Ttc		ankyrin repeat domain 49							81.0	72.0	75.0					11																	94231498		2201	4298	6499	SO:0001583	missense	54851	0	0					g.chr11:94231498C>T	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.520C>T	chr11.hg19:g.94231498C>T	ENSP00000440396:p.Leu174Phe	0					ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	p.L174F	NM_017704.2	NP_060174.2	1	2	3	1.991067	Q8WVL7	ANR49_HUMAN		3	1017	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	1	1	hg19	c.520C>T	CCDS8300.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	T;T	0.70631	-0.5;-0.5	5.88	5.88	0.94601	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.341802	0.30695	N	0.009080	T	0.75766	0.3894	M	0.63428	1.95	0.31341	N	0.683661	D	0.61697	0.99	P	0.54759	0.76	T	0.80134	-0.1509	10	0.87932	D	0	-3.3387	9.9303	0.41519	0.0:0.8141:0.0:0.1859	.	174	Q8WVL7	ANR49_HUMAN	F	174	ENSP00000440396:L174F;ENSP00000303518:L174F	ENSP00000303518:L174F	L	+	1	0	0	ANKRD49	93871146	93871146	0.980000	0.34600	0.974000	0.42286	0.923000	0.55619	2.210000	0.42816	2.780000	0.95670	0.655000	0.94253	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_017704			59	58		272	265	1		1	1		0	0	55	0		1	9.991113e-01	0	20	0	31	0	59	272
FUT4	2526	broad.mit.edu	37	11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	420					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667																																						ENST00000358752.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1258-1260)Gat>Tat		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							36.0	34.0	35.0					11																	94278557		2201	4297	6498	SO:0001583	missense	2526	0	0					g.chr11:94278557G>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1258G>T	chr11.hg19:g.94278557G>T	ENSP00000351602:p.Asp420Tyr	0					RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	p.D420Y	NM_002033.3	NP_002024.1	1	2	3	1.991067	P22083	FUT4_HUMAN		1	1541	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	1	1	hg19	c.1258G>T	CCDS8301.1	1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650391	0.87958	.	.	ENSG00000196371	ENST00000358752	T	0.69926	-0.44	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.85682	U	0.000000	D	0.85708	0.5759	M	0.94101	3.495	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89439	0.3722	10	0.87932	D	0	.	14.5742	0.68235	0.0:0.0:0.8535:0.1465	.	420	P22083	FUT4_HUMAN	Y	420	ENSP00000351602:D420Y	ENSP00000351602:D420Y	D	+	1	0	0	FUT4	93918205	93918205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.339000	0.79563	0.561000	0.74099	GAT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_002033			51	51		193	193	0		1	1		0	0	39	0		1	9.983577e-01	0	10	0	30	0	51	193
PIWIL4	143689	broad.mit.edu	37	11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	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	101					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)			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)				TCTTCAGGTTCCAGTGGAATA	0.328																																						ENST00000299001.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999630	0.990000	1.000000																										0				30						c.(301-303)tCc>tAc		piwi-like RNA-mediated gene silencing 4							55.0	53.0	54.0					11																	94310447		2201	4298	6499	SO:0001583	missense	143689	0	0					g.chr11:94310447C>A	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.302C>A	chr11.hg19:g.94310447C>A	ENSP00000299001:p.Ser101Tyr	0					RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	p.S101Y	NM_152431.2	NP_689644.2	1	2	3	1.991067	Q7Z3Z4	PIWL4_HUMAN		4	513	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	1	1	hg19	c.302C>A	CCDS31656.1	1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884465	0.72410	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.15487	2.42;2.42	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.194570	0.33938	N	0.004404	T	0.36744	0.0978	M	0.79475	2.455	0.80722	D	1	D	0.52996	0.957	P	0.52627	0.704	T	0.19976	-1.0289	10	0.87932	D	0	-21.238	17.8577	0.88771	0.0:1.0:0.0:0.0	.	101	Q7Z3Z4	PIWL4_HUMAN	Y	101;32	ENSP00000299001:S101Y;ENSP00000440499:S32Y	ENSP00000299001:S101Y	S	+	2	0	0	PIWIL4	93950095	93950095	0.986000	0.35501	1.000000	0.80357	0.857000	0.48899	1.039000	0.30266	2.746000	0.94184	0.655000	0.94253	TCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_152431			34	34		227	224	1		1	1		0	0	35	0		1	1.859171e-01	0	2	0	4	0	34	227
AMOTL1	154810	broad.mit.edu	37	11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I|AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	262					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)			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)				CGCTCGCTCAGCGAGAGAATC	0.622																																						ENST00000433060.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(784-786)aGc>aTc		angiomotin like 1							41.0	46.0	44.0					11																	94533141		2031	4186	6217	SO:0001583	missense	154810	0	0					g.chr11:94533141G>T	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.785G>T	chr11.hg19:g.94533141G>T	ENSP00000387739:p.Ser262Ile	0					AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I|AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I	p.S262I	NM_130847.2	NP_570899.1	1	2	3	1.991067	Q8IY63	AMOL1_HUMAN		3	926	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	1	1	hg19	c.785G>T	CCDS44712.1	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839201	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.19938	2.11;2.11;2.11	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.56123	-0.8031	9	.	.	.	-15.7647	18.5608	0.91100	0.0:0.0:1.0:0.0	.	212;262	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	212;268;262;262	ENSP00000320968:S212I;ENSP00000323474:S262I;ENSP00000387739:S262I	.	S	+	2	0	0	AMOTL1	94172789	94172789	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	AGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-20.000000	1	0.170000	NM_130847			62	62		280	278	1		1	0		0	0	66	0		1	9.744994e-01	0	0	0	29	0	62	280
AMOTL1	154810	broad.mit.edu	37	11	94554837	94554837	+	Silent	SNP	G	G	A	rs368335501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000433060.2	+	4	1404	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Silent_p.P371P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	421					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)			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)				CACAGCCCCCGCCTGCCGCCT	0.647																																						ENST00000433060.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1261-1263)ccG>ccA		angiomotin like 1		G		2,4040		0,2,2019	32.0	37.0	36.0		1263	-4.8	0.2	11		36	1,8323		0,1,4161	no	coding-synonymous	AMOTL1	NM_130847.2		0,3,6180	AA,AG,GG		0.012,0.0495,0.0243		421/957	94554837	3,12363	2021	4162	6183	SO:0001819	synonymous_variant	154810	25	120958	42				g.chr11:94554837G>A	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.1263G>A	chr11.hg19:g.94554837G>A		0					AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000539727.1_3'UTR	p.P421P	NM_130847.2	NP_570899.1	1	2	3	1.991067	Q8IY63	AMOL1_HUMAN		4	1404	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	1	1	hg19	c.1263G>A	CCDS44712.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1		2	2	2	0		0	0	41		41	38	1	2.060000	-20.000000	1	0.170000	NM_130847			44	40		184	176	1		1	0		0	0	41	0		1	9.988373e-01	0	1	0	45	0	44	184
AMOTL1	154810	broad.mit.edu	37	11	94602523	94602523	+	Silent	SNP	C	C	T	rs574065556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317837.9_Silent_p.A470A|AMOTL1_ENST00000317829.8_Silent_p.A833A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	883					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)			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)				ACAAGAGTGCCGAGCTCTTCT	0.652																																						ENST00000433060.2	1.000000	0.740000	1	9.900000e-01	0.990000	0.979465	0.990000	1.000000																										0				36						c.(2647-2649)gcC>gcT		angiomotin like 1							34.0	44.0	41.0					11																	94602523		2170	4276	6446	SO:0001819	synonymous_variant	154810	2	121174	17				g.chr11:94602523C>T	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.2649C>T	chr11.hg19:g.94602523C>T		0					AMOTL1_ENST00000317837.9_Silent_p.A470A|AMOTL1_ENST00000317829.8_Silent_p.A833A	p.A883A	NM_130847.2	NP_570899.1	1	2	3	1.991067	Q8IY63	AMOL1_HUMAN		12	2790	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	0	1	hg19	c.2649C>T	CCDS44712.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.152200	1	0.170000	NM_130847			11	11		84	84	1		1	0		0	0	13	0		9.986691e-01	9.808296e-01	0	0	0	55	0	11	84
KDM4D	55693	broad.mit.edu	37	11	94731619	94731619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	361					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622																																						ENST00000335080.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				30						c.(1081-1083)caG>caA		lysine (K)-specific demethylase 4D							55.0	47.0	50.0					11																	94731619		2201	4298	6499	SO:0001819	synonymous_variant	55693	0	0					g.chr11:94731619G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1083G>A	chr11.hg19:g.94731619G>A		0					KDM4D_ENST00000536741.1_Silent_p.Q361Q	p.Q361Q	NM_018039.2	NP_060509.2	1	2	3	1.991067	Q6B0I6	KDM4D_HUMAN		3	1915	+			B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	1	1	hg19	c.1083G>A	CCDS8302.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_018039			37	37		187	184	1		1	0		0	0	45	0		1	7.652723e-02	0	0	0	3	0	37	187
KDM4D	55693	broad.mit.edu	37	11	94731922	94731922	+	Silent	SNP	T	T	G	rs369415035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	462					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607																																						ENST00000335080.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1384-1386)gcT>gcG		lysine (K)-specific demethylase 4D							44.0	48.0	46.0					11																	94731922		2201	4298	6499	SO:0001819	synonymous_variant	55693	9	121410	44				g.chr11:94731922T>G	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1386T>G	chr11.hg19:g.94731922T>G		0					KDM4D_ENST00000536741.1_Silent_p.A462A	p.A462A	NM_018039.2	NP_060509.2	1	2	3	1.991067	Q6B0I6	KDM4D_HUMAN		3	2218	+			B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	1	1	hg19	c.1386T>G	CCDS8302.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	1	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_018039			87	87		317	312	1		1	0		0	0	81	0		1	0	0	1	0	0	0	87	317
SESN3	143686	broad.mit.edu	37	11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000536441.1	-	9	1678	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	448					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATGCGTTTTGTAGTTCTCTCA	0.368																																						ENST00000536441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1342-1344)Aca>Gca		sestrin 3							166.0	155.0	159.0					11																	94908712		2201	4298	6499	SO:0001583	missense	143686	0	0					g.chr11:94908712T>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1342A>G	chr11.hg19:g.94908712T>C	ENSP00000441927:p.Thr448Ala	0					SESN3_ENST00000278499.2_Missense_Mutation_p.T309A|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	p.T448A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	1	2	3	1.991067	P58005	SESN3_HUMAN		9	1678	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	1	1	hg19	c.1342A>G	CCDS8303.1	1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539931	0.45176	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.70219	-0.4932	10	0.72032	D	0.01	0.0717	15.2678	0.73675	0.0:0.0:0.0:1.0	.	309;448	B7Z7P9;P58005	.;SESN3_HUMAN	A	448;309	ENSP00000441927:T448A;ENSP00000278499:T309A	ENSP00000278499:T309A	T	-	1	0	0	SESN3	94548360	94548360	1.000000	0.71417	0.950000	0.38849	0.184000	0.23303	7.365000	0.79537	2.192000	0.70111	0.528000	0.53228	ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	0		2	2	2	0		0	0	99		99	96	1	2.060000	-20.000000	1	0.170000	NM_144665			70	70		323	315	1		1	1		0	0	99	0		1	9.920700e-01	0	5	0	32	0	70	323
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000536441.1	-	3	629	c.293G>A	c.(292-294)cGc>cAc	p.R98H	SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	98					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443																																						ENST00000536441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R98L(1)	lung(1)	16						c.(292-294)cGc>cAc		sestrin 3							202.0	176.0	185.0					11																	94924617		2201	4298	6499	SO:0001583	missense	143686	0	0					g.chr11:94924617C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.293G>A	chr11.hg19:g.94924617C>T	ENSP00000441927:p.Arg98His	0					SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000537480.1_5'Flank	p.R98H	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	1	2	3	1.991067	P58005	SESN3_HUMAN		3	629	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	1	1	hg19	c.293G>A	CCDS8303.1	1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530975	0.45073	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.43757	1.38	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.71414	0.899;0.973;0.93	T	0.03240	-1.1057	10	0.18710	T	0.47	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	H	98;20;98;98	ENSP00000441927:R98H;ENSP00000278499:R20H;ENSP00000376926:R98H;ENSP00000407008:R98H	ENSP00000278499:R20H	R	-	2	0	0	SESN3	94564265	94564265	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.534000	0.53568	2.767000	0.95098	0.655000	0.94253	CGC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_144665			118	116		498	486	1		1	1		0	0	146	0		1	9.987658e-01	0	7	0	37	0	118	498
SESN3	143686	broad.mit.edu	37	11	94924736	94924736	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000536441.1	-	3	510	c.174T>C	c.(172-174)cgT>cgC	p.R58R	SESN3_ENST00000537480.1_5'UTR|SESN3_ENST00000416495.2_Silent_p.R58R|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000393234.1_Silent_p.R58R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	58					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAAAGTTAGTACGTTCATCCA	0.383																																						ENST00000536441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(172-174)cgT>cgC		sestrin 3							141.0	122.0	128.0					11																	94924736		2201	4298	6499	SO:0001819	synonymous_variant	143686	0	0					g.chr11:94924736A>G	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.174T>C	chr11.hg19:g.94924736A>G		0					SESN3_ENST00000393234.1_Silent_p.R58R|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000537480.1_5'UTR	p.R58R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	1	2	3	1.991067	P58005	SESN3_HUMAN		3	510	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B7Z7P9|Q96AD1	Silent	SNP	ENST00000536441.1	1	1	hg19	c.174T>C	CCDS8303.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_144665			61	59		280	274	1		1	1		0	0	79	0		1	9.208548e-01	0	4	0	18	0	61	280
FAM76B	143684	broad.mit.edu	37	11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A	rs374764840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W|FAM76B_ENST00000538047.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	114						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353																																						ENST00000358780.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(340-342)Cgg>Tgg		family with sequence similarity 76, member B		G	TRP/ARG	0,4118		0,0,2059	148.0	144.0	145.0		340	6.0	1.0	11		145	1,8471		0,1,4235	no	missense	FAM76B	NM_144664.4	101	0,1,6294	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	114/340	95519306	1,12589	2059	4236	6295	SO:0001583	missense	143684	3	121058	40				g.chr11:95519306G>A		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.340C>T	chr11.hg19:g.95519306G>A	ENSP00000351631:p.Arg114Trp	0					FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W|FAM76B_ENST00000538047.1_5'Flank	p.R114W	NM_144664.4	NP_653265.3	1	2	3	1.991067	Q5HYJ3	FA76B_HUMAN		4	652	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	1	1	hg19	c.340C>T	CCDS41700.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026245	0.93518	0.0	1.18E-4	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85294	0.1069	9	0.87932	D	0	-4.671	20.4008	0.98991	0.0:0.0:1.0:0.0	.	114	Q5HYJ3	FA76B_HUMAN	W	114	.	ENSP00000351631:R114W	R	-	1	2	2	FAM76B	95158954	95158954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.305000	0.72805	2.826000	0.97356	0.655000	0.94253	CGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	0	0	1		22	4	2	1		1	1	96		96	96	1	2.060000	-3.018190	1	0.170000	NM_144664			105	104		579	567	1		1	1		1	0	96	0		1	9.713439e-01	0	21	0	33	0	105	579
MTMR2	8898	broad.mit.edu	37	11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95582947C>T	ENST00000346299.5	-	9	1224	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	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)			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)				TTCTTTGCTTCGCTTTCCACT	0.413																																						ENST00000346299.5	1.000000	0.230000	4.800000e-01	2.900000e-01	0.370000	0.407571	0.370000	0.370000																										0				19						c.(883-885)cGa>cAa		myotubularin related protein 2							174.0	157.0	163.0					11																	95582947		2201	4298	6499	SO:0001583	missense	8898	1	121412	36				g.chr11:95582947C>T	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.884G>A	chr11.hg19:g.95582947C>T	ENSP00000345752:p.Arg295Gln	0					MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	p.R295Q	NM_016156.5	NP_057240.3	1	2	3	1.991067	Q13614	MTMR2_HUMAN		9	1224	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	1	1	hg19	c.884G>A	CCDS8305.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.121352	0.94385	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.17	4.26	0.50523	5.17	4.26	0.50523	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.97023	3.925	0.80722	D	1	P;P	0.52577	0.954;0.954	B;P	0.47206	0.436;0.541	D	0.97125	0.9814	10	0.87932	D	0	.	13.854	0.63515	0.0:0.9256:0.0:0.0744	.	295;295	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	295;223;223;223;223;278	ENSP00000345752:R295Q;ENSP00000376915:R223Q;ENSP00000386882:R223Q;ENSP00000343737:R223Q;ENSP00000396020:R223Q	ENSP00000345752:R295Q	R	-	2	0	0	MTMR2	95222595	95222595	0.998000	0.40836	0.892000	0.35008	0.982000	0.71751	7.755000	0.85180	1.169000	0.42739	0.591000	0.81541	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	0	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.020314	1	0.170000	NM_016156			20	19		619	604	0		1	1		0	0	107	0		9.999937e-01	9.409255e-01	0	3	0	146	0	20	619
MAML2	84441	broad.mit.edu	37	11	95712362	95712362	+	Missense_Mutation	SNP	G	G	A	rs372556150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95712362G>A	ENST00000524717.1	-	5	4505	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1074					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTGATGCCCGTCCTCGACTG	0.507			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1	1.000000	0.150000	4.800000e-01	2.300000e-01	0.330000	0.370255	0.330000	0.310000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	84441	T	mastermind-like 2 (Drosophila)				E	E	MECT1, CRTC3		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				43						c.(3220-3222)aCg>aTg		mastermind-like 2 (Drosophila)		G	MET/THR	0,3922		0,0,1961	134.0	132.0	133.0		3221	5.4	1.0	11		133	1,8305		0,1,4152	no	missense	MAML2	NM_032427.1	81	0,1,6113	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	1074/1157	95712362	1,12227	1961	4153	6114	SO:0001583	missense	84441	7	120888	40				g.chr11:95712362G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3221C>T	chr11.hg19:g.95712362G>A	ENSP00000434552:p.Thr1074Met	0						p.T1074M	NM_032427.1	NP_115803.1	1	2	3	1.991067	Q8IZL2	MAML2_HUMAN		5	4505	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	0	1	hg19	c.3221C>T	CCDS44714.1	0	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623922	0.46840	0.0	1.2E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.110599	0.40818	N	0.001007	T	0.50086	0.1595	N	0.22421	0.69	0.31327	N	0.685315	D	0.76494	0.999	P	0.57846	0.828	T	0.57551	-0.7792	10	0.66056	D	0.02	-17.2867	14.6894	0.69072	0.0:0.0:1.0:0.0	.	1074	Q8IZL2	MAML2_HUMAN	M	1074	ENSP00000434552:T1074M;ENSP00000412394:T1074M	ENSP00000412394:T1074M	T	-	2	0	0	MAML2	95352010	95352010	1.000000	0.71417	0.969000	0.41365	0.343000	0.28985	4.423000	0.59861	2.527000	0.85204	0.561000	0.74099	ACG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.478100	1	0.170000				8	8		293	286	0		1	0		0	0	74	0		9.885736e-01	7.202926e-01	0	1	0	91	0	8	293
MAML2	84441	broad.mit.edu	37	11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	848					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTAGACAGGAGGCTGGAATTG	0.423			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	84441	T	mastermind-like 2 (Drosophila)				E	E	MECT1, CRTC3		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				43						c.(2542-2544)Ctc>Atc		mastermind-like 2 (Drosophila)							153.0	143.0	146.0					11																	95713041		1899	4115	6014	SO:0001583	missense	84441	0	0					g.chr11:95713041G>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2542C>A	chr11.hg19:g.95713041G>T	ENSP00000434552:p.Leu848Ile	0						p.L848I	NM_032427.1	NP_115803.1	1	2	3	1.991067	Q8IZL2	MAML2_HUMAN		5	3826	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	1	1	hg19	c.2542C>A	CCDS44714.1	1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289942	0.40494	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.105832	0.41294	D	0.000913	T	0.57286	0.2043	L	0.29908	0.895	0.35936	D	0.832882	D	0.63880	0.993	D	0.68483	0.958	T	0.59621	-0.7420	10	0.30078	T	0.28	-17.0723	19.1576	0.93517	0.0:0.0:1.0:0.0	.	848	Q8IZL2	MAML2_HUMAN	I	848	ENSP00000434552:L848I;ENSP00000412394:L848I	ENSP00000412394:L848I	L	-	1	0	0	MAML2	95352689	95352689	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.101000	0.64566	2.598000	0.87819	0.650000	0.86243	CTC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	1		18	7	2	1		1	1	46		46	46	1	2.060000	-20.000000	1	0.170000				60	57		205	197	1		1	1		1	0	46	0		9.999999e-01	9.982960e-01	0	12	0	64	0	60	205
MAML2	84441	broad.mit.edu	37	11	95825100	95825100	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95825100G>A	ENST00000524717.1	-	2	3379	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	699					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTGCAATGGGCTGATTCTGC	0.478			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1	1.000000	0.200000	9.100000e-01	3.500000e-01	0.580000	0.609918	0.580000	1.000000				Dom	yes			Dom	yes		11	11q22-q23	11q22-q23	84441	T	mastermind-like 2 (Drosophila)				E	E	MECT1, CRTC3		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				43						c.(2095-2097)Ccc>Tcc		mastermind-like 2 (Drosophila)							77.0	79.0	79.0					11																	95825100		2111	4250	6361	SO:0001583	missense	84441	0	0					g.chr11:95825100G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2095C>T	chr11.hg19:g.95825100G>A	ENSP00000434552:p.Pro699Ser	0						p.P699S	NM_032427.1	NP_115803.1	1	2	3	1.991067	Q8IZL2	MAML2_HUMAN		2	3379	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	0	1	hg19	c.2095C>T	CCDS44714.1	0	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.583013	0.03827	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.43688	0.94;0.94	5.44	2.32	0.28847	5.44	2.32	0.28847	.	0.300651	0.27749	N	0.018011	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.27082	T	0.32	-1.027	4.0119	0.09626	0.2704:0.2275:0.5021:0.0	.	699	Q8IZL2	MAML2_HUMAN	S	699	ENSP00000434552:P699S;ENSP00000412394:P699S	ENSP00000412394:P699S	P	-	1	0	0	MAML2	95464748	95464748	0.895000	0.30542	0.002000	0.10522	0.111000	0.19643	0.223000	0.17719	0.147000	0.19030	0.655000	0.94253	CCC	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-3.875759	1	0.170000				4	4		86	84	0		1	1	0	0	0	14	1		8.866301e-01	6.680330e-01	3.506311e-03	2	0	45	2	4	86
CCDC82	79780	broad.mit.edu	37	11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	499										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)		TGTTCATCTTCAACTTCTTCT	0.348																																						ENST00000278520.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1495-1497)Gaa>Aaa		coiled-coil domain containing 82							181.0	176.0	178.0					11																	96092228		2200	4298	6498	SO:0001583	missense	79780	0	0					g.chr11:96092228C>T	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.1495G>A	chr11.hg19:g.96092228C>T	ENSP00000278520:p.Glu499Lys	0					CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K	p.E499K			1	2	3	1.991067	Q8N4S0	CCD82_HUMAN		8	1923	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	1	1	hg19	c.1495G>A	CCDS8307.1	1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100002	0.20552	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24908	1.83;1.83;1.83	5.78	4.86	0.63082	5.78	4.86	0.63082	.	0.181349	0.46758	N	0.000262	T	0.25419	0.0618	L	0.54323	1.7	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13575	-1.0504	10	0.27082	T	0.32	-12.0923	13.1438	0.59450	0.0:0.8154:0.116:0.0686	.	499	Q8N4S0	CCD82_HUMAN	K	499	ENSP00000278520:E499K;ENSP00000444010:E499K;ENSP00000397156:E499K	ENSP00000278520:E499K	E	-	1	0	0	CCDC82	95731876	95731876	0.061000	0.20836	0.132000	0.22025	0.707000	0.40811	1.190000	0.32126	0.919000	0.36945	-0.797000	0.03246	GAA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_024725			107	103		404	399	1		1	1		0	0	98	0		1	1	0	28	0	78	0	107	404
CCDC82	79780	broad.mit.edu	37	11	96098310	96098310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96098310C>T	ENST00000278520.5	-	7	1642	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	405										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)		ATTTTCTACTCGCTCCTGaaa	0.289																																						ENST00000278520.5	1.000000	0.150000	6.200000e-01	2.500000e-01	0.400000	0.446145	0.400000	0.360000																										0				19						c.(1213-1215)cGa>cAa		coiled-coil domain containing 82							32.0	31.0	32.0					11																	96098310		2200	4297	6497	SO:0001583	missense	79780	0	0					g.chr11:96098310C>T	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.1214G>A	chr11.hg19:g.96098310C>T	ENSP00000278520:p.Arg405Gln	0					CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q	p.R405Q			1	2	3	1.991067	Q8N4S0	CCD82_HUMAN		7	1642	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	0	1	hg19	c.1214G>A	CCDS8307.1	0	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829599	0.71258	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.44083	0.93;0.93;0.93	5.72	4.81	0.61882	5.72	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.61274	0.2334	M	0.66939	2.045	0.47476	D	0.999434	D	0.89917	1.0	D	0.80764	0.994	T	0.62661	-0.6807	10	0.48119	T	0.1	-3.3533	13.5099	0.61506	0.0:0.9237:0.0:0.0763	.	405	Q8N4S0	CCD82_HUMAN	Q	405	ENSP00000278520:R405Q;ENSP00000444010:R405Q;ENSP00000397156:R405Q	ENSP00000278520:R405Q	R	-	2	0	0	CCDC82	95737958	95737958	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	4.941000	0.63540	1.424000	0.47217	0.591000	0.81541	CGA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.122003	1	0.170000	NM_024725			5	5		155	153	0		1	0		0	0	34	0		9.364683e-01	5.609279e-01	0	1	0	53	0	5	155
CNTN5	53942	broad.mit.edu	37	11	99690411	99690411	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	ENST00000524871.1	+	4	482	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000528682.1_Silent_p.A64A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	64					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		CACTGAGTGCTTCTTCACCCA	0.428																																						ENST00000524871.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.997092	0.990000	1.000000																										0				81						c.(190-192)gcT>gcG		contactin 5							93.0	94.0	93.0					11																	99690411		1924	4125	6049	SO:0001819	synonymous_variant	53942	0	0					g.chr11:99690411T>G	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.192T>G	chr11.hg19:g.99690411T>G		0					CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000527185.1_Silent_p.A64A	p.A64A	NM_014361.3	NP_055176.1	1	2	3	1.991067	O94779	CNTN5_HUMAN		4	482	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	0	1	hg19	c.192T>G	CCDS53696.1	1																																																																																								1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	0	0	0		2	2	2	0		0	0	64		64	0	1	2.060000	-14.373850	1	0.170000	NM_014361			35	0		276	0	0					0	0	64	0		0	0	0	0	0	0	0	35	276
CNTN5	53942	broad.mit.edu	37	11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T	rs200519976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	65					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		CTGAGTGCTTCTTCACCCAGC	0.428																																						ENST00000524871.1	1.000000	0.810000	1	9.800000e-01	0.990000	0.983905	0.990000	1.000000																										0				81						c.(193-195)tCt>tTt		contactin 5							91.0	92.0	92.0					11																	99690413		1922	4125	6047	SO:0001583	missense	53942	0	0					g.chr11:99690413C>T	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.194C>T	chr11.hg19:g.99690413C>T	ENSP00000435637:p.Ser65Phe	0					CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F	p.S65F	NM_014361.3	NP_055176.1	1	2	3	1.991067	O94779	CNTN5_HUMAN		4	484	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	1	1	hg19	c.194C>T	CCDS53696.1	1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575017	0.28092	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	4.74	3.8	0.43715	4.74	3.8	0.43715	.	0.334642	0.24894	N	0.034757	T	0.42131	0.1189	N	0.19112	0.55	0.37224	D	0.905385	P;P	0.46277	0.875;0.79	P;B	0.44732	0.459;0.276	T	0.50250	-0.8850	10	0.42905	T	0.14	.	13.9622	0.64188	0.153:0.8469:0.0:0.0	.	65;65	E9PKE8;O94779	.;CNTN5_HUMAN	F	65	ENSP00000433575:S65F;ENSP00000436185:S65F;ENSP00000435637:S65F;ENSP00000279463:S65F	ENSP00000279463:S65F	S	+	2	0	0	CNTN5	99195623	99195623	0.904000	0.30761	0.996000	0.52242	0.267000	0.26476	1.828000	0.39111	1.266000	0.44231	0.650000	0.86243	TCT	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	1	0	0		2	2	2	0		0	0	64		64	0	1	2.060000	-20.000000	1	0.170000	NM_014361			30	0		272	0	0					0	0	64	0		0	0	0	0	0	0	0	30	272
CNTN5	53942	broad.mit.edu	37	11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	311	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		TTTCACGGTTACAGCTGCTAA	0.338																																						ENST00000524871.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998738	0.990000	1.000000																										0				81						c.(931-933)Aca>Gca		contactin 5							89.0	89.0	89.0					11																	99872819		1851	4099	5950	SO:0001583	missense	53942	0	0					g.chr11:99872819A>G	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.931A>G	chr11.hg19:g.99872819A>G	ENSP00000435637:p.Thr311Ala	0					CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A	p.T311A	NM_014361.3	NP_055176.1	1	2	3	1.991067	O94779	CNTN5_HUMAN		9	1221	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	1	1	hg19	c.931A>G	CCDS53696.1	1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807120	0.50421	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.68	4.56	0.56223	5.68	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106561	0.64402	D	0.000003	T	0.67344	0.2883	L	0.46614	1.455	0.40422	D	0.979856	P;P;P	0.46621	0.722;0.856;0.881	P;P;P	0.53450	0.601;0.466;0.726	T	0.62685	-0.6802	10	0.18276	T	0.48	.	10.7406	0.46152	0.9256:0.0:0.0744:0.0	.	311;237;311	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	A	311;311;311;237;311	ENSP00000433575:T311A;ENSP00000436185:T311A;ENSP00000435637:T311A;ENSP00000393229:T237A;ENSP00000279463:T311A	ENSP00000279463:T311A	T	+	1	0	0	CNTN5	99378029	99378029	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.319000	0.65835	0.989000	0.38761	0.482000	0.46254	ACA	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.999810	1	0.170000	NM_014361			13	13		63	63	1		1	0		0	0	16	0		9.996963e-01	0	0	0	0	1	0	13	63
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D|GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547																																						ENST00000535456.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1738-1740)gGc>gAc		galactosidase, beta 1-like 2							148.0	148.0	148.0					11																	134244527		2201	4297	6498	SO:0001583	missense	89944	0	0					g.chr11:134244527G>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1739G>A	chr11.hg19:g.134244527G>A	ENSP00000444628:p.Gly580Asp	0					GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D	p.G580D	NM_138342.3	NP_612351.2	1	2	3	1.991067	Q8IW92	GLBL2_HUMAN		18	1927	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	1	1	hg19	c.1739G>A	CCDS31724.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040103|4.040103	0.75732|0.75732	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.99507|.	-6.04;-6.04;-6.04|.	5.61|5.61	3.72|3.72	0.42706|0.42706	5.61|5.61	3.72|3.72	0.42706|0.42706	Galactose-binding domain-like (1);|.	0.164458|.	0.53938|.	N|.	0.000051|.	T|.	0.75064|.	0.3799|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.52842|.	0.956|.	P|.	0.56474|.	0.799|.	T|.	0.75648|.	-0.3245|.	10|.	0.66056|.	D|.	0.02|.	-6.4414|-6.4414	12.2901|12.2901	0.54812|0.54812	0.141:0.0:0.859:0.0|0.141:0.0:0.859:0.0	.|.	580|.	Q8IW92|.	GLBL2_HUMAN|.	D|X	580|518	ENSP00000344659:G580D;ENSP00000444628:G580D;ENSP00000374531:G580D|.	ENSP00000344659:G580D|.	G|W	+|+	2|3	0|0	0|0	GLB1L2|GLB1L2	133749737|133749737	133749737|133749737	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.995000|0.995000	0.86356|0.86356	4.583000|4.583000	0.60964|0.60964	0.705000|0.705000	0.31890|0.31890	0.655000|0.655000	0.94253|0.94253	GGC|TGG	1.735126e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	1	0	1		2	2	2	0		0	0	152		152	150	1	2.060000	-20.000000	1	0.170000	NM_138342			111	111		580	570	1		1	1		0	0	152	0		1	9.999943e-01	0	37	0	52	0	111	580
CLEC2B	9976	broad.mit.edu	37	12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368																																						ENST00000228438.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				5						c.(430-432)Tgc>Cgc		C-type lectin domain family 2, member B							177.0	148.0	158.0					12																	10005919		2203	4300	6503	SO:0001583	missense	9976	0	0					g.chr12:10005919A>G	X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.430T>C	chr12.hg19:g.10005919A>G	ENSP00000228438:p.Cys144Arg	0					CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	p.C144R	NM_005127.2	NP_005118.2	0	0	0	1.930325	Q92478	CLC2B_HUMAN		5	1363	-			B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	ENST00000228438.2	1	1	hg19	c.430T>C	CCDS8605.1	1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657279	0.29425	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	D;D	0.97688	-4.49;-4.49	2.94	2.94	0.34122	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47093	D	0.000257	D	0.98861	0.9615	H	0.95884	3.735	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	7.7084	0.28663	1.0:0.0:0.0:0.0	.	144	Q92478	CLC2B_HUMAN	R	144;75	ENSP00000228438:C144R;ENSP00000437946:C75R	ENSP00000228438:C144R	C	-	1	0	0	CLEC2B	9897186	9897186	0.996000	0.38824	0.958000	0.39756	0.154000	0.21943	2.948000	0.49066	1.604000	0.50143	0.528000	0.53228	TGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.997630	1	0.170000	NM_005127			37	36		161	161	1		1	1		0	0	56	0		1	1	0	34	0	157	0	37	161
UHRF1BP1L	23074	broad.mit.edu	37	12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1162										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTAGGTTTGCACCAGCATTC	0.353																																						ENST00000279907.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(3484-3486)Gca>Aca		UHRF1 binding protein 1-like							130.0	121.0	124.0					12																	100444940		2203	4300	6503	SO:0001583	missense	23074	0	0					g.chr12:100444940C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3484G>A	chr12.hg19:g.100444940C>T	ENSP00000279907:p.Ala1162Thr	0					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	p.A1162T	NM_015054.1	NP_055869.1	1	2	3	2.002308	A0JNW5	UH1BL_HUMAN		16	3696	-			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	1	1	hg19	c.3484G>A	CCDS31882.1	1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147265	0.09134	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.96;2.96	5.03	1.85	0.25348	5.03	1.85	0.25348	.	1.509740	0.03722	N	0.252075	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	B	0.18863	0.031	B	0.18263	0.021	T	0.38693	-0.9649	10	0.16420	T	0.52	-0.7108	5.7213	0.17988	0.1524:0.6682:0.0:0.1793	.	1162	A0JNW5	UH1BL_HUMAN	T	1162;812	ENSP00000279907:A1162T;ENSP00000444824:A812T	ENSP00000279907:A1162T	A	-	1	0	0	UHRF1BP1L	98969071	98969071	0.030000	0.19436	0.011000	0.14972	0.009000	0.06853	1.106000	0.31098	0.457000	0.26962	-0.355000	0.07637	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001006947			90	88		318	316	1		1	1		0	0	63	0		1	9.999999e-01	0	28	0	58	0	90	318
GOLGA2P5	55592	broad.mit.edu	37	12	100550600	100550600	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100550600C>A	ENST00000397112.4	-	0	2221				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAAGGCTCACCTCACAAAGAT	0.597																																						ENST00000397112.4	1.000000	0.560000	1	8.100000e-01	0.990000	0.933308	0.990000	1.000000																										0				4																																														0	0	0					g.chr12:100550600C>A																													chr12.hg19:g.100550600C>A		0					RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA		NR_036632.1		1	2	3	2.002308	Q9HBQ8	GGA2B_HUMAN		0	2221	-			Q9NSV2	RNA	SNP	ENST00000397112.4	0	1	hg19			1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2	0	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-15.408420	1	0.170000				9	8		88	86	0		1	0		0	0	10	0		9.941590e-01	3.069307e-02	0	0	0	3	0	9	88
DEPDC4	120863	broad.mit.edu	37	12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	233					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338																																						ENST00000416321.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(697-699)Gaa>Aaa		DEP domain containing 4							76.0	75.0	75.0					12																	100656045		2203	4299	6502	SO:0001583	missense	120863	0	0					g.chr12:100656045C>T	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.697G>A	chr12.hg19:g.100656045C>T	ENSP00000396234:p.Glu233Lys	0						p.E233K	NM_152317.2	NP_689530.1	1	2	3	2.002308	Q8N2C3	DEPD4_HUMAN		3	699	-			Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	1	1	hg19	c.697G>A	CCDS9075.1	1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693806	0.15039	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.35789	1.33;1.29;1.6;1.34	4.36	3.34	0.38264	4.36	3.34	0.38264	.	1.536140	0.05008	N	0.470470	T	0.18467	0.0443	N	0.04203	-0.255	0.24219	N	0.995446	B;B;B;B	0.18310	0.0;0.0;0.027;0.004	B;B;B;B	0.13407	0.001;0.001;0.009;0.003	T	0.22417	-1.0217	10	0.27785	T	0.31	.	5.0182	0.14347	0.0:0.6158:0.0:0.3842	.	233;233;166;233	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	K	233;166;233;233;166;226	ENSP00000396234:E233K;ENSP00000448385:E233K;ENSP00000448338:E166K;ENSP00000449590:E226K	ENSP00000367490:E233K	E	-	1	0	0	DEPDC4	99180176	99180176	0.999000	0.42202	0.994000	0.49952	0.900000	0.52787	0.369000	0.20416	0.678000	0.31325	0.514000	0.50259	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_152317			46	46		192	192	1		1	1		0	0	22	0		1	3.344950e-01	0	4	0	2	0	46	192
SCYL2	55681	broad.mit.edu	37	12	100707216	100707216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100707216C>A	ENST00000360820.2	+	7	1306	c.869C>A	c.(868-870)tCt>tAt	p.S290Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CGTTTAGGATCTAGTTCACTT	0.294																																						ENST00000360820.2	1.000000	0.140000	5.400000e-01	2.300000e-01	0.350000	0.406348	0.350000	0.310000																										0				41						c.(868-870)tCt>tAt		SCY1-like 2 (S. cerevisiae)							73.0	65.0	68.0					12																	100707216		2203	4300	6503	SO:0001583	missense	55681	0	0					g.chr12:100707216C>A	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.869C>A	chr12.hg19:g.100707216C>A	ENSP00000354061:p.Ser290Tyr	0						p.S290Y	NM_017988.4	NP_060458.3	1	2	3	2.002308	Q6P3W7	SCYL2_HUMAN		7	1306	+			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	0	1	hg19	c.869C>A	CCDS9076.1	0	.	.	.	.	.	.	.	.	.	.	C	6.279	0.419668	0.11928	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.73575	-0.76;-0.76	5.87	4.99	0.66335	5.87	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.165039	0.56097	D	0.000031	T	0.68778	0.3038	L	0.58810	1.83	0.54753	D	0.999986	B	0.20164	0.042	B	0.23018	0.043	T	0.64984	-0.6278	10	0.02654	T	1	.	17.2775	0.87120	0.0:0.8745:0.1255:0.0	.	290	Q6P3W7	SCYL2_HUMAN	Y	290;117;290	ENSP00000448366:S290Y;ENSP00000354061:S290Y	ENSP00000258506:S117Y	S	+	2	0	0	SCYL2	99231347	99231347	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	1.507000	0.48752	-0.196000	0.12772	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	0	0	0		2	2	2	0		0	0	37		37	36	1	2.060000	-3.615745	1	0.170000	NM_017988			6	6		214	208	0		1	1		0	0	37	0		9.625091e-01	8.193572e-01	0	4	0	110	0	6	214
SCYL2	55681	broad.mit.edu	37	12	100723037	100723037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	567					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328																																						ENST00000360820.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1699-1701)gcC>gcT		SCY1-like 2 (S. cerevisiae)							78.0	84.0	82.0					12																	100723037		2203	4299	6502	SO:0001819	synonymous_variant	55681	0	0					g.chr12:100723037C>T	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.1701C>T	chr12.hg19:g.100723037C>T		0						p.A567A	NM_017988.4	NP_060458.3	1	2	3	2.002308	Q6P3W7	SCYL2_HUMAN		13	2138	+			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	1	1	hg19	c.1701C>T	CCDS9076.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.798677	1	0.170000	NM_017988			66	65		295	289	1		1	1		0	0	56	0		1	1	0	40	0	119	0	66	295
SLC17A8	246213	broad.mit.edu	37	12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	372					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408																																						ENST00000323346.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1114-1116)Caa>Taa		solute carrier family 17 (vesicular glutamate transporter), member 8							118.0	116.0	117.0					12																	100797876		2203	4300	6503	SO:0001587	stop_gained	246213	0	0					g.chr12:100797876C>T	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.1114C>T	chr12.hg19:g.100797876C>T	ENSP00000316909:p.Gln372*	0					SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*|snoU13_ENST00000459038.1_RNA	p.Q372*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	1	2	3	2.002308	Q8NDX2	VGLU3_HUMAN		9	1427	+			B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	0	1	hg19	c.1114C>T	CCDS9077.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.261472	0.97421	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	.	.	.	X	372;322	.	ENSP00000316909:Q372X	Q	+	1	0	0	SLC17A8	99322007	99322007	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_139319			67	66		262	260	0		1			0	0	49	0		1	0	0	0	0	0	0	67	262
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453																																						ENST00000323346.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1273-1275)Gga>Tga		solute carrier family 17 (vesicular glutamate transporter), member 8							298.0	266.0	277.0					12																	100806634		2203	4300	6503	SO:0001587	stop_gained	246213	0	0					g.chr12:100806634G>T	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.1273G>T	chr12.hg19:g.100806634G>T	ENSP00000316909:p.Gly425*	0					SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	p.G425*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	1	2	3	2.002308	Q8NDX2	VGLU3_HUMAN		10	1586	+			B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	0	1	hg19	c.1273G>T	CCDS9077.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.280373	0.98182	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375	.	ENSP00000316909:G425X	G	+	1	0	0	SLC17A8	99330765	99330765	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.752000	0.94435	0.655000	0.94253	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-2.879789	1	0.170000	NM_139319			92	88		522	511	1		1			0	0	116	0		1	0	0	0	0	0	0	92	522
NR1H4	9971	broad.mit.edu	37	12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000551379.1	+	6	986	c.958C>A	c.(958-960)Cca>Aca	p.P320T	NR1H4_ENST00000548884.1_Missense_Mutation_p.P306T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	320	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)			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)	AAAAAAGCTACCAGGTATTTT	0.284																																						ENST00000551379.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(958-960)Cca>Aca		nuclear receptor subfamily 1, group H, member 4	Chenodeoxycholic acid(DB06777)						53.0	64.0	60.0					12																	100930822		2183	4278	6461	SO:0001583	missense	9971	0	0					g.chr12:100930822C>A	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.958C>A	chr12.hg19:g.100930822C>A	ENSP00000447149:p.Pro320Thr	0					NR1H4_ENST00000548884.1_Missense_Mutation_p.P306T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T	p.P320T			1	2	3	2.002308	Q96RI1	NR1H4_HUMAN		6	986	+			A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	1	1	hg19	c.958C>A	CCDS55876.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773555	0.69992	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	4.76	4.76	0.60689	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.90705	3.14	0.80722	D	1	P;P;P;P;P	0.49185	0.764;0.92;0.597;0.649;0.919	B;P;B;B;P	0.61533	0.294;0.89;0.228;0.317;0.69	D	0.98789	1.0735	10	0.87932	D	0	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	259;320;316;310;306	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	306;310;259;320;316	ENSP00000448506:P306T;ENSP00000376712:P310T;ENSP00000448978:P259T;ENSP00000447149:P320T;ENSP00000188403:P316T	ENSP00000188403:P316T	P	+	1	0	0	NR1H4	99454953	99454953	1.000000	0.71417	0.964000	0.40570	0.555000	0.35460	7.190000	0.77755	2.318000	0.78349	0.585000	0.79938	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_005123			89	88		446	438	1		1	0		0	0	91	0		1	3.977299e-01	0	0	0	8	0	89	446
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000539410.1	+	8	1078	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000539410.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(691-693)cGa>cAa		growth arrest-specific 2 like 3							129.0	129.0	129.0					12																	101016096		2203	4299	6502	SO:0001583	missense	283431	1	121404	32				g.chr12:101016096G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>A	chr12.hg19:g.101016096G>A	ENSP00000439672:p.Arg231Gln	0					GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127Q	p.R231Q			1	2	3	2.002308	Q86XJ1	GA2L3_HUMAN		8	1078	+			B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	1	1	hg19	c.692G>A	CCDS9079.1	1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870349	0.51588	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.02;2.0	5.9	5.9	0.94986	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.22475	0.0542	N	0.05158	-0.105	0.31358	N	0.681691	D	0.56287	0.975	P	0.57283	0.817	T	0.10753	-1.0616	10	0.17369	T	0.5	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	Q	231;231;127;231	ENSP00000266754:R231Q;ENSP00000448955:R231Q;ENSP00000442406:R127Q;ENSP00000439672:R231Q	ENSP00000266754:R231Q	R	+	2	0	0	GAS2L3	99540227	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_174942			54	54		186	186	1		1	1		0	0	75	0		1	8.540561e-01	0	6	0	8	0	54	186
GAS2L3	283431	broad.mit.edu	37	12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000539410.1	+	9	1257	c.871A>C	c.(871-873)Aaa>Caa	p.K291Q	GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.K187Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	291					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403																																						ENST00000539410.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(871-873)Aaa>Caa		growth arrest-specific 2 like 3							79.0	82.0	81.0					12																	101017454		2203	4300	6503	SO:0001583	missense	283431	0	0					g.chr12:101017454A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.871A>C	chr12.hg19:g.101017454A>C	ENSP00000439672:p.Lys291Gln	0					GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.K187Q	p.K291Q			1	2	3	2.002308	Q86XJ1	GA2L3_HUMAN		9	1257	+			B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	1	1	hg19	c.871A>C	CCDS9079.1	1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602846	0.87157	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.72;1.72;1.77;1.72	5.47	5.47	0.80525	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.116335	0.64402	D	0.000017	T	0.50411	0.1614	M	0.69823	2.125	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.41790	T	0.15	-19.3779	15.5533	0.76170	1.0:0.0:0.0:0.0	.	291	Q86XJ1	GA2L3_HUMAN	Q	291;291;187;291	ENSP00000266754:K291Q;ENSP00000448955:K291Q;ENSP00000442406:K187Q;ENSP00000439672:K291Q	ENSP00000266754:K291Q	K	+	1	0	0	GAS2L3	99541585	99541585	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.886000	0.92447	2.087000	0.62958	0.533000	0.62120	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_174942			100	98		420	408	1		1	1		0	0	83	0		1	7.030264e-01	0	3	0	9	0	100	420
GAS2L3	283431	broad.mit.edu	37	12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000539410.1	+	9	1317	c.931A>C	c.(931-933)Aca>Cca	p.T311P	GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000537247.1_Missense_Mutation_p.T207P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	311					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383																																						ENST00000539410.1	1.000000	0.680000	1	8.100000e-01	0.970000	0.926763	0.970000	1.000000																										0				35						c.(931-933)Aca>Cca		growth arrest-specific 2 like 3							51.0	53.0	53.0					12																	101017514		2203	4300	6503	SO:0001583	missense	283431	0	0					g.chr12:101017514A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.931A>C	chr12.hg19:g.101017514A>C	ENSP00000439672:p.Thr311Pro	0					GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P|GAS2L3_ENST00000537247.1_Missense_Mutation_p.T207P	p.T311P			1	2	3	2.002308	Q86XJ1	GA2L3_HUMAN		9	1317	+			B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	1	1	hg19	c.931A>C	CCDS9079.1	1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066624	0.36470	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26518	1.76;1.76;1.73;1.76	5.71	3.21	0.36854	5.71	3.21	0.36854	.	0.419651	0.27189	N	0.020505	T	0.22244	0.0536	L	0.54323	1.7	0.34191	D	0.672037	B	0.17038	0.02	B	0.17722	0.019	T	0.18147	-1.0346	10	0.29301	T	0.29	-10.0264	8.3763	0.32445	0.7994:0.1318:0.0688:0.0	.	311	Q86XJ1	GA2L3_HUMAN	P	311;311;207;311	ENSP00000266754:T311P;ENSP00000448955:T311P;ENSP00000442406:T207P;ENSP00000439672:T311P	ENSP00000266754:T311P	T	+	1	0	0	GAS2L3	99541645	99541645	0.984000	0.35163	1.000000	0.80357	0.784000	0.44337	1.268000	0.33062	0.987000	0.38709	0.533000	0.62120	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_174942			33	32		374	360	1		1	1		0	0	72	0		1	7.140739e-01	0	8	0	22	0	33	374
CLEC12A	160364	broad.mit.edu	37	12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	190	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999429	0.990000	1.000000																										0				16						c.(568-570)tgG>tgA		C-type lectin domain family 12, member A							63.0	63.0	63.0					12																	10134657		2203	4300	6503	SO:0001587	stop_gained	160364	0	0					g.chr12:10134657G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.570G>A	chr12.hg19:g.10134657G>A	ENSP00000302804:p.Trp190*	0					CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*	p.W190*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	0	0	0	1.930325	Q5QGZ9	CL12A_HUMAN		5	752	+			B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Nonsense_Mutation	SNP	ENST00000304361.4	0	1	hg19	c.570G>A	CCDS8608.1	1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802655	0.31869	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.31	3.42	0.39159	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2605	0.31781	0.1068:0.0:0.8932:0.0	.	.	.	.	X	200;190;190;157	.	ENSP00000302804:W190X	W	+	3	0	0	CLEC12A	10025924	10025924	0.998000	0.40836	0.997000	0.53966	0.047000	0.14425	3.433000	0.52834	1.416000	0.47057	-0.136000	0.14681	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-14.617510	1	0.170000	NM_138337			24	24		126	125	1		1	0		0	0	40	0		9.999998e-01	7.194159e-01	0	0	0	15	0	24	126
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392977.3	+	2	254	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392979.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	15					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.V15D(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						AAAACCAAAGTCTTCCACCCA	0.468										HNSCC(74;0.22)																												ENST00000392977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V15D(1)	lung(1)	78						c.(43-45)gTc>gGc		anoctamin 4							95.0	93.0	94.0					12																	101295607		2203	4300	6503	SO:0001583	missense	121601	0	0					g.chr12:101295607T>G	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.44T>G	chr12.hg19:g.101295607T>G	ENSP00000376703:p.Val15Gly	0	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392979.3_Missense_Mutation_p.V15G	p.V15G			1	2	3	2.002308	Q32M45	ANO4_HUMAN		2	254	+			Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	1	1	hg19	c.44T>G		1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447952	0.63178	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;0.95;-0.48	5.63	4.44	0.53790	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60663	0.2286	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.14023	0.004;0.01	T	0.56619	-0.7949	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	181;15;15	ENSP00000443751:V181G;ENSP00000376705:V15G;ENSP00000376703:V15G	ENSP00000376703:V15G	V	+	2	0	0	ANO4	99819738	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_178826			101	101		458	454	1		1	0		0	0	93	0		1	8.765665e-02	0	0	0	3	0	101	458
ANO4	121601	broad.mit.edu	37	12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392977.3	+	12	1278	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	ANO4_ENST00000392979.3_Nonsense_Mutation_p.W321*|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	356					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)			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						GGTTGGGCTGGTACACCGGCA	0.483										HNSCC(74;0.22)																												ENST00000392977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1066-1068)tgG>tgA		anoctamin 4							178.0	156.0	163.0					12																	101436160		2203	4300	6503	SO:0001587	stop_gained	121601	0	0					g.chr12:101436160G>A	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.1068G>A	chr12.hg19:g.101436160G>A	ENSP00000376703:p.Trp356*	0	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Nonsense_Mutation_p.W321*	p.W356*			1	2	3	2.002308	Q32M45	ANO4_HUMAN		12	1278	+			Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	0	1	hg19	c.1068G>A		1	.	.	.	.	.	.	.	.	.	.	G	40	8.414798	0.98801	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356	.	ENSP00000376703:W356X	W	+	3	0	0	ANO4	99960291	99960291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_178826			64	64		245	243	1		1	0		0	0	49	0		1	0	0	0	0	1	0	64	245
SLC5A8	160728	broad.mit.edu	37	12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A	rs372017110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.996909	0.990000	1.000000																										0				47						c.(1324-1326)Gca>Tca		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							63.0	57.0	59.0					12																	101560474		2203	4300	6503	SO:0001583	missense	160728	0	0					g.chr12:101560474C>A	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.1324G>T	chr12.hg19:g.101560474C>A	ENSP00000445340:p.Ala442Ser	0						p.A442S	NM_145913.3	NP_666018.3	1	2	3	2.002308				12	1882	-				Missense_Mutation	SNP	ENST00000536262.2	1	1	hg19	c.1324G>T	CCDS9080.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449801	0.43531	.	.	ENSG00000256870	ENST00000536262	D	0.95447	-3.71	5.54	3.61	0.41365	5.54	3.61	0.41365	.	0.125811	0.53938	D	0.000060	D	0.95667	0.8591	M	0.91459	3.21	0.54753	D	0.999986	B	0.30686	0.29	B	0.34931	0.192	D	0.94865	0.8025	10	0.56958	D	0.05	.	9.3499	0.38131	0.1436:0.7793:0.0:0.0771	.	442	Q8N695	SC5A8_HUMAN	S	442	ENSP00000445340:A442S	ENSP00000445340:A442S	A	-	1	0	0	SLC5A8	100084605	100084605	1.000000	0.71417	0.987000	0.45799	0.597000	0.36814	3.542000	0.53625	1.338000	0.45544	-0.150000	0.13652	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999980	1	0.170000	NM_145913			15	15		93	92	1		1			0	0	19	0		9.999061e-01	0	0	0	0	0	0	15	93
SLC5A8	160728	broad.mit.edu	37	12	101576692	101576692	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.987823	0.990000	1.000000																										0				47						c.(1054-1056)Aca>Gca		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							87.0	82.0	83.0					12																	101576692		2203	4300	6503	SO:0001630	splice_region_variant	160728	0	0					g.chr12:101576692T>C	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.1053-1A>G	chr12.hg19:g.101576692T>C		0						p.T352A	NM_145913.3	NP_666018.3	1	2	3	2.002308				9	1612	-				Splice_Site	SNP	ENST00000536262.2	1	0	hg19	c.1054A>G	CCDS9080.1	1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774384	0.90108	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96282	0.9207	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.0:0.0:1.0	.	352	Q8N695	SC5A8_HUMAN	A	352	ENSP00000445340:T352A	ENSP00000445340:T352A	T	-	1	0	0	SLC5A8	100100823	100100823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.972000	0.88022	2.134000	0.65973	0.528000	0.53228	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_145913	Missense_Mutation		29	29		255	254	0		1			0	0	70	0		1	0	0	0	0	0	0	29	255
CLEC12B	387837	broad.mit.edu	37	12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000338896.5	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.Q112H|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458																																						ENST00000338896.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(334-336)caG>caT		C-type lectin domain family 12, member B							98.0	92.0	94.0					12																	10167267		2203	4300	6503	SO:0001583	missense	387837	0	0					g.chr12:10167267G>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.336G>T	chr12.hg19:g.10167267G>T	ENSP00000344563:p.Gln112His	0					CLEC12B_ENST00000396502.1_Missense_Mutation_p.Q112H|RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank	p.Q112H	NM_001129998.1	NP_001123470.1	0	0	0	1.930325	Q2HXU8	CL12B_HUMAN		3	464	+			Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	1	1	hg19	c.336G>T	CCDS44830.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467313	0.43839	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.13	0.963	0.19649	4.13	0.963	0.19649	C-type lectin fold (1);Ly49-like N-terminal (1);	0.508822	0.16725	N	0.202096	T	0.20700	0.0498	M	0.77313	2.365	0.22982	N	0.998474	P;P	0.36789	0.57;0.514	B;B	0.43990	0.438;0.311	T	0.12578	-1.0542	10	0.17832	T	0.49	.	3.235	0.06761	0.2275:0.0:0.5672:0.2053	.	112;112	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	H	112	ENSP00000379759:Q112H;ENSP00000344563:Q112H	ENSP00000344563:Q112H	Q	+	3	2	2	CLEC12B	10058534	10058534	1.000000	0.71417	0.932000	0.37286	0.819000	0.46315	1.450000	0.35134	0.477000	0.27464	0.462000	0.41574	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.581087	1	0.170000	NM_205852			57	55		234	223	1		1			0	0	51	0		1	0	0	0	0	0	0	57	234
CLEC12B	387837	broad.mit.edu	37	12	10168306	10168306	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000338896.5	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	220	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408																																						ENST00000338896.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(658-660)ggC>ggA		C-type lectin domain family 12, member B							150.0	140.0	143.0					12																	10168306		2203	4300	6503	SO:0001819	synonymous_variant	387837	0	0					g.chr12:10168306C>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.660C>A	chr12.hg19:g.10168306C>A		0					CLEC12B_ENST00000396502.1_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank	p.G220G	NM_001129998.1	NP_001123470.1	0	0	0	1.930325	Q2HXU8	CL12B_HUMAN		5	788	+			Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	1	1	hg19	c.660C>A	CCDS44830.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_205852			114	111		427	414	1		1			0	0	108	0		1	0	0	0	0	0	0	114	427
SLC5A8	160728	broad.mit.edu	37	12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(757-759)tgG>tgA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							143.0	138.0	139.0					12																	101584320		2203	4300	6503	SO:0001587	stop_gained	160728	0	0					g.chr12:101584320C>T	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.759G>A	chr12.hg19:g.101584320C>T	ENSP00000445340:p.Trp253*	0						p.W253*	NM_145913.3	NP_666018.3	1	2	3	2.002308				6	1317	-				Nonsense_Mutation	SNP	ENST00000536262.2	0	1	hg19	c.759G>A	CCDS9080.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.821964	0.98966	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.86	4.96	0.65561	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3842	0.74684	0.0:0.932:0.0:0.068	.	.	.	.	X	253	.	ENSP00000445340:W253X	W	-	3	0	0	SLC5A8	100108451	100108451	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.754000	0.68743	2.774000	0.95407	0.585000	0.79938	TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.666741	1	0.170000	NM_145913			109	109		432	422	1		1			0	0	78	0		1	0	0	0	0	0	0	109	432
UTP20	27340	broad.mit.edu	37	12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	430					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)			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						TTGTGAATTGCTTCTTAATTG	0.373																																						ENST00000261637.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(1288-1290)tgC>tgA		UTP20, small subunit (SSU) processome component, homolog (yeast)							48.0	45.0	46.0					12																	101689296		2203	4300	6503	SO:0001587	stop_gained	27340	0	0					g.chr12:101689296C>A	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.1290C>A	chr12.hg19:g.101689296C>A	ENSP00000261637:p.Cys430*	0						p.C430*	NM_014503.2	NP_055318.2	1	2	3	2.002308	O75691	UTP20_HUMAN		12	1464	+			Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	0	1	hg19	c.1290C>A	CCDS9081.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.824714	0.96989	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.250704	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3695	18.4532	0.90711	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261637:C430X	C	+	3	2	2	UTP20	100213427	100213427	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.366000	0.44204	2.354000	0.79902	0.650000	0.86243	TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_014503			30	30		99	99	1		1	0		0	0	37	0		1	7.622821e-01	0	0	0	11	0	30	99
UTP20	27340	broad.mit.edu	37	12	101731892	101731892	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1235					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)			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						TGACCAATGTTTTTGCAATTC	0.408																																						ENST00000261637.4	1.000000	0.140000	4.000000e-01	2.000000e-01	0.280000	0.334194	0.280000	0.260000																										0				88						c.(3703-3705)gtT>gtG		UTP20, small subunit (SSU) processome component, homolog (yeast)							135.0	135.0	135.0					12																	101731892		2203	4300	6503	SO:0001819	synonymous_variant	27340	2	121412	34				g.chr12:101731892T>G	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.3705T>G	chr12.hg19:g.101731892T>G		0						p.V1235V	NM_014503.2	NP_055318.2	1	2	3	2.002308	O75691	UTP20_HUMAN		30	3879	+			Q9H3H4	Silent	SNP	ENST00000261637.4	1	1	hg19	c.3705T>G	CCDS9081.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.424729	1	0.170000	NM_014503			10	10		435	426	0		1	0		0	0	99	0		9.966188e-01	1.288437e-01	0	0	0	25	0	10	435
UTP20	27340	broad.mit.edu	37	12	101760367	101760367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2053					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)			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						AGATCCACGTCTACCACCCCA	0.502																																						ENST00000261637.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(6157-6159)Cta>Tta		UTP20, small subunit (SSU) processome component, homolog (yeast)							181.0	156.0	165.0					12																	101760367		2203	4300	6503	SO:0001819	synonymous_variant	27340	0	0					g.chr12:101760367C>T	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.6157C>T	chr12.hg19:g.101760367C>T		0						p.L2053L	NM_014503.2	NP_055318.2	1	2	3	2.002308	O75691	UTP20_HUMAN		47	6331	+			Q9H3H4	Silent	SNP	ENST00000261637.4	1	1	hg19	c.6157C>T	CCDS9081.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_014503			118	117		584	572	1		1	1		0	0	119	0		1	9.924145e-01	0	15	0	24	0	118	584
MYBPC1	4604	broad.mit.edu	37	12	102040565	102040565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000550270.1	+	11	915	c.915C>T	c.(913-915)tgC>tgT	p.C305C	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000553190.1_Silent_p.C305C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000549145.1_Silent_p.C318C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000541119.1_Silent_p.C293C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000361466.2_Silent_p.C330C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	305	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987). {ECO:0000305}.	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)			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						ACAAAGGATGCCAGAGAATCC	0.363																																						ENST00000550270.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				57						c.(913-915)tgC>tgT		myosin binding protein C, slow type							89.0	86.0	87.0					12																	102040565		2203	4300	6503	SO:0001819	synonymous_variant	4604	0	0					g.chr12:102040565C>T		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.915C>T	chr12.hg19:g.102040565C>T		0					RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Silent_p.C318C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000541119.1_Silent_p.C293C	p.C305C			1	2	3	2.002308	Q00872	MYPC1_HUMAN		11	915	+			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	1	1	hg19	c.915C>T	CCDS9085.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-19.992070	1	0.170000				40	40		199	196	1		1	0		0	0	52	0		1	0	0	0	0	1	0	40	199
MYBPC1	4604	broad.mit.edu	37	12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000550270.1	+	19	2129	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R723M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	710	Fibronectin type-III 1. {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)			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						ATGCCCTCCAGGCCTTTTGTT	0.473																																						ENST00000550270.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2128-2130)aGg>aTg		myosin binding protein C, slow type							113.0	106.0	108.0					12																	102056307		2203	4300	6503	SO:0001583	missense	4604	0	0					g.chr12:102056307G>T		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.2129G>T	chr12.hg19:g.102056307G>T	ENSP00000449702:p.Arg710Met	0					RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R723M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M	p.R710M			1	2	3	2.002308	Q00872	MYPC1_HUMAN		19	2129	+			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	1	1	hg19	c.2129G>T	CCDS9085.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549241	0.45383	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.01	-1.08	0.09936	6.01	-1.08	0.09936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491893	0.18148	N	0.150193	T	0.46328	0.1387	N	0.25992	0.78	0.32516	N	0.536896	P;P;B;B;B;B;P;B;P;P	0.38767	0.489;0.646;0.239;0.335;0.335;0.228;0.465;0.335;0.623;0.465	B;B;B;B;B;B;P;B;B;P	0.48189	0.375;0.305;0.139;0.264;0.367;0.192;0.501;0.367;0.353;0.57	T	0.57952	-0.7722	10	0.87932	D	0	.	10.9076	0.47088	0.6988:0.0:0.3012:0.0	.	691;698;710;710;697;684;710;710;735;735	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	684;710;710;710;697;696;735;723;710;735;710;691;698;735;611;710	ENSP00000448175:R684M;ENSP00000400908:R710M;ENSP00000388989:R710M;ENSP00000353822:R710M;ENSP00000376665:R697M;ENSP00000447362:R696M;ENSP00000354845:R735M;ENSP00000447660:R723M;ENSP00000447900:R710M;ENSP00000440034:R710M;ENSP00000446128:R691M;ENSP00000442847:R698M;ENSP00000354849:R735M;ENSP00000447116:R611M;ENSP00000449702:R710M	ENSP00000353822:R710M	R	+	2	0	0	MYBPC1	100580438	100580438	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.420000	0.44679	-0.348000	0.08286	-0.300000	0.09419	AGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.862980	1	0.170000				87	84		307	300	1		1	1		0	0	67	0		1	2.164932e-01	0	2	0	2	0	87	307
CLEC9A	283420	broad.mit.edu	37	12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	50					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323																																						ENST00000355819.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999409	0.990000	1.000000																										0				22						c.(148-150)Gca>Aca		C-type lectin domain family 9, member A							160.0	130.0	140.0					12																	10206926		2203	4300	6503	SO:0001583	missense	283420	0	0					g.chr12:10206926G>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.148G>A	chr12.hg19:g.10206926G>A	ENSP00000348074:p.Ala50Thr	0						p.A50T	NM_207345.2	NP_997228.1	0	0	0	1.930325	Q6UXN8	CLC9A_HUMAN		5	761	+			B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	1	1	hg19	c.148G>A	CCDS8611.1	1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920691	0.00498	.	.	ENSG00000197992	ENST00000355819	T	0.01313	5.02	3.89	-2.15	0.07102	3.89	-2.15	0.07102	.	0.672896	0.13056	N	0.417266	T	0.00440	0.0014	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	10	0.06365	T	0.9	.	7.9944	0.30258	0.4952:0.0:0.5048:0.0	.	50	Q6UXN8	CLC9A_HUMAN	T	50	ENSP00000348074:A50T	ENSP00000348074:A50T	A	+	1	0	0	CLEC9A	10098193	10098193	0.000000	0.05858	0.082000	0.20525	0.268000	0.26511	-0.467000	0.06664	-0.309000	0.08779	-0.423000	0.05987	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-15.452860	1	0.170000	NM_207345			30	30		180	177	1		1	0		0	0	44	0		1	0	0	0	0	1	0	30	180
MYBPC1	4604	broad.mit.edu	37	12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000550270.1	+	24	2668	c.2668T>G	c.(2668-2670)Tct>Gct	p.S890A	MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000549145.1_Missense_Mutation_p.S903A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	890	Ig-like C2-type 6.				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)			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						CATTCGCAACTCTGAGACTGA	0.383																																						ENST00000550270.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2668-2670)Tct>Gct		myosin binding protein C, slow type							143.0	153.0	150.0					12																	102067280		2203	4300	6503	SO:0001583	missense	4604	0	0					g.chr12:102067280T>G		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.2668T>G	chr12.hg19:g.102067280T>G	ENSP00000449702:p.Ser890Ala	0					MYBPC1_ENST00000549145.1_Missense_Mutation_p.S903A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A	p.S890A			1	2	3	2.002308	Q00872	MYPC1_HUMAN		24	2668	+			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	1	1	hg19	c.2668T>G	CCDS9085.1	1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818772	0.50633	.	.	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	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144208	0.32287	N	0.006318	T	0.78761	0.4334	M	0.79123	2.44	0.38230	D	0.941003	B;B;B;B;B;B;B;B;B;B	0.24317	0.006;0.051;0.101;0.025;0.013;0.089;0.023;0.028;0.094;0.004	B;B;P;B;B;P;B;B;B;B	0.48598	0.102;0.361;0.583;0.261;0.159;0.583;0.247;0.428;0.302;0.111	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6098	0.39657	0.2618:0.0:0.0:0.7382	.	853;860;890;872;859;846;872;890;897;897	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	846;890;890;890;859;858;897;903;872;872;853;860;897;773;890	ENSP00000448175:S846A;ENSP00000400908:S890A;ENSP00000388989:S890A;ENSP00000353822:S890A;ENSP00000376665:S859A;ENSP00000447362:S858A;ENSP00000354845:S897A;ENSP00000447660:S903A;ENSP00000447900:S872A;ENSP00000440034:S872A;ENSP00000446128:S853A;ENSP00000442847:S860A;ENSP00000354849:S897A;ENSP00000447116:S773A;ENSP00000449702:S890A	ENSP00000353822:S890A	S	+	1	0	0	MYBPC1	100591411	100591411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.124000	0.64709	2.189000	0.69895	0.454000	0.30748	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	0	0	1		2	2	2	0		0	0	220		220	218	1	2.060000	-20.000000	1	0.170000				164	161		747	740	1		1	0		0	0	220	0		1	0	0	0	0	1	0	164	747
CHPT1	56994	broad.mit.edu	37	12	102117041	102117041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000229266.3	+	6	1111	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000549872.1_Silent_p.K292K	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	292					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)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318																																						ENST00000229266.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(874-876)aaG>aaA		choline phosphotransferase 1							113.0	115.0	114.0					12																	102117041		2203	4300	6503	SO:0001819	synonymous_variant	56994	0	0					g.chr12:102117041G>A		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.876G>A	chr12.hg19:g.102117041G>A		0					CHPT1_ENST00000549872.1_Silent_p.K292K	p.K292K	NM_020244.2	NP_064629.2	1	2	3	2.002308	Q8WUD6	CHPT1_HUMAN		6	1111	+			B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	1	1	hg19	c.876G>A	CCDS9086.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.840391	1	0.170000	NM_020244			44	43		194	191	1		1	1		0	0	48	0		1	1	0	58	0	128	0	44	194
GNPTAB	79158	broad.mit.edu	37	12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	884					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)			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						CTATCTGTGTAATGCTGCAGC	0.393																																						ENST00000299314.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2650-2652)Tac>Cac		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							290.0	281.0	284.0					12																	102158045		2203	4300	6503	SO:0001583	missense	79158	1	121412	36				g.chr12:102158045A>G	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.2650T>C	chr12.hg19:g.102158045A>G	ENSP00000299314:p.Tyr884His	0					RNU6-101P_ENST00000410323.1_RNA	p.Y884H	NM_024312.4	NP_077288.2	1	2	3	2.002308	Q3T906	GNPTA_HUMAN		13	2912	-			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	1	1	hg19	c.2650T>C	CCDS9088.1	1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806642	0.50421	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.62	0.515	0.17013	5.62	0.515	0.17013	.	0.377659	0.31082	N	0.008299	D	0.92763	0.7699	L	0.59436	1.845	0.09310	N	0.999995	B	0.11235	0.004	B	0.12156	0.007	D	0.84408	0.0564	10	0.42905	T	0.14	-2.6504	5.9361	0.19167	0.6673:0.1281:0.2045:0.0	.	884	Q3T906	GNPTA_HUMAN	H	884	ENSP00000299314:Y884H	ENSP00000299314:Y884H	Y	-	1	0	0	GNPTAB	100682176	100682176	0.839000	0.29477	0.000000	0.03702	0.685000	0.39939	3.055000	0.49916	-0.135000	0.11495	0.533000	0.62120	TAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1	1	0	1		2	2	2	0		0	0	227		227	225	1	2.060000	-20.000000	1	0.170000				228	225		931	908	1		1	1		0	0	227	0		1	1	0	32	0	106	0	228	931
GNPTAB	79158	broad.mit.edu	37	12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	558					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)			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						TCACCTTTTGGAATAATATAG	0.358																																						ENST00000299314.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1672-1674)Cca>Tca		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							112.0	110.0	111.0					12																	102159023		2203	4300	6503	SO:0001583	missense	79158	0	0					g.chr12:102159023G>A	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.1672C>T	chr12.hg19:g.102159023G>A	ENSP00000299314:p.Pro558Ser	0					RNU6-101P_ENST00000410323.1_RNA	p.P558S	NM_024312.4	NP_077288.2	1	2	3	2.002308	Q3T906	GNPTA_HUMAN		13	1934	-			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	1	1	hg19	c.1672C>T	CCDS9088.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313537	0.81358	.	.	ENSG00000111670	ENST00000299314	D	0.97161	-4.27	5.96	5.08	0.68730	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98025	1.0373	10	0.72032	D	0.01	-16.2415	15.2943	0.73891	0.0669:0.0:0.9331:0.0	.	558	Q3T906	GNPTA_HUMAN	S	558	ENSP00000299314:P558S	ENSP00000299314:P558S	P	-	1	0	0	GNPTAB	100683154	100683154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.230000	0.95299	1.536000	0.49237	0.655000	0.94253	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1	1	0	1		19	2	2	0		0	1	95		95	94	1	2.060000	-20.000000	1	0.170000				102	100		461	455	1		1	1		0	0	95	0		1	9.999993e-01	0	8	0	84	0	102	461
NUP37	79023	broad.mit.edu	37	12	102468224	102468224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102468224C>T	ENST00000552283.1	-	10	1028	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	NUP37_ENST00000251074.1_Missense_Mutation_p.A297T|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	297					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GATCCAACGGCTACAGAACCC	0.383																																						ENST00000552283.1			0	0																														0				17						c.(889-891)Gcc>Acc		nucleoporin 37kDa							66.0	57.0	60.0					12																	102468224		2203	4300	6503	SO:0001583	missense	79023	0	0					g.chr12:102468224C>T	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.889G>A	chr12.hg19:g.102468224C>T	ENSP00000448054:p.Ala297Thr						NUP37_ENST00000251074.1_Missense_Mutation_p.A297T|RP11-554E23.4_ENST00000552707.1_RNA	p.A297T							Q8NFH4	NUP37_HUMAN		10	1028	-			Q9H644	Missense_Mutation	SNP	ENST00000552283.1	1	0	hg19	c.889G>A	CCDS9089.1		.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315945	0.05422	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T	0.30182	1.54;1.54	6.17	-5.45	0.02616	6.17	-5.45	0.02616	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.495874	0.25143	N	0.032818	T	0.11665	0.0284	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	10	0.15066	T	0.55	-0.5591	9.5044	0.39037	0.1564:0.1692:0.5702:0.1042	.	297	Q8NFH4	NUP37_HUMAN	T	297;297;206	ENSP00000448054:A297T;ENSP00000251074:A297T	ENSP00000251074:A297T	A	-	1	0	0	NUP37	100992354	100992354	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.596000	0.05720	-1.025000	0.03334	-0.818000	0.03119	GCC			TCGA-IB-7651-01A-11D-2154-08	0.383	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_024057			20	20		132	131	0		1	1		0	0	36	0		9.999968e-01	9.999968e-01	0	47	0	104	0	20	132
PAH	5053	broad.mit.edu	37	12	103238180	103238180	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000553106.1	-	10	1471	c.999C>A	c.(997-999)ctC>ctA	p.L333L	PAH_ENST00000307000.2_Silent_p.L328L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	333			L -> F (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423																																						ENST00000553106.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999833	0.990000	1.000000																										0				27						c.(997-999)ctC>ctA		phenylalanine hydroxylase	Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						96.0	87.0	90.0					12																	103238180		2203	4300	6503	SO:0001819	synonymous_variant	5053	0	0					g.chr12:103238180G>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.999C>A	chr12.hg19:g.103238180G>T		1					PAH_ENST00000307000.2_Silent_p.L328L	p.L333L	NM_000277.1	NP_000268.1	2	2	4	2.154923	P00439	PH4H_HUMAN		10	1471	-			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	1	1	hg19	c.999C>A	CCDS9092.1	1																																																																																								2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				21	21		125	119	1		1	0		0	0	45	0		9.999978e-01	4.965463e-01	0	0	0	11	0	21	125
C12orf42	374470	broad.mit.edu	37	12	103696338	103696338	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000378113.2	-	6	857		c.e6-1		C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Splice_Site|C12orf42_ENST00000548048.1_Splice_Site	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42											NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GCGGCAGAACCTGGAAGGCAA	0.622																																						ENST00000378113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.e6-1		chromosome 12 open reading frame 42							22.0	25.0	24.0					12																	103696338		1981	4151	6132	SO:0001630	splice_region_variant	374470	0	0					g.chr12:103696338C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.632-1G>A	chr12.hg19:g.103696338C>T		1					C12orf42_ENST00000548048.1_Splice_Site|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Splice_Site		NM_001099336.1	NP_001092806.1	2	2	4	2.154923	Q96LP6	CL042_HUMAN		6	857	-			Q49A64|Q4G0S2	Splice_Site	SNP	ENST00000378113.2	1	1	hg19		CCDS44963.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574459	0.45902	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	4.24	3.35	0.38373	4.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7242	0.18004	0.1933:0.7017:0.0:0.105	.	.	.	.	.	-1	.	.	.	-	.	.	.	C12orf42	102220468	102220468	0.971000	0.33674	0.849000	0.33467	0.259000	0.26198	1.384000	0.34396	1.075000	0.40932	0.561000	0.74099	.	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	1	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-3.177804	1	0.170000	NM_198521	Intron		45	45		228	228	1		1			0	0	41	0		1	0	0	0	0	0	0	45	228
GABARAPL1	23710	broad.mit.edu	37	12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000266458.5	+	4	668	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000546017.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	115		Cleavage; by RavZ.			autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498																																					Melanoma(3;46 76 4652 22680 42285)	ENST00000266458.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(343-345)Tat>Cat		GABA(A) receptor-associated protein like 1							107.0	99.0	101.0					12																	10374440		2203	4300	6503	SO:0001583	missense	23710	0	0					g.chr12:10374440T>C	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.343T>C	chr12.hg19:g.10374440T>C	ENSP00000266458:p.Tyr115His	0					GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000546017.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H	p.Y115H	NM_031412.2	NP_113600.1	0	0	0	1.930325	Q9H0R8	GBRL1_HUMAN		4	668	+			B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	1	1	hg19	c.343T>C	CCDS8620.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622355	0.46840	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50813	0.79;0.73;0.79;0.73;0.73;0.73	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.085531	0.50627	N	0.000110	T	0.60637	0.2284	M	0.86573	2.825	0.31322	N	0.685925	B	0.15719	0.014	B	0.34931	0.192	T	0.67948	-0.5538	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.0:1.0	.	115	Q9H0R8	GBRL1_HUMAN	H	115;25;115;25;25;25	ENSP00000266458:Y115H;ENSP00000439734:Y25H;ENSP00000444186:Y115H;ENSP00000446456:Y25H;ENSP00000444738:Y25H;ENSP00000444209:Y25H	ENSP00000266458:Y115H	Y	+	1	0	0	GABARAPL1	10265707	10265707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.060000	0.61445	0.533000	0.62120	TAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				45	44		174	173	1		1	1		0	0	43	0		1	1	0	88	0	364	0	45	174
C12orf42	374470	broad.mit.edu	37	12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000378113.2	-	5	554	c.329C>A	c.(328-330)cCc>cAc	p.P110H	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000548048.1_Missense_Mutation_p.P43H	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398																																						ENST00000378113.2	1.000000	0.720000	1	9.900000e-01	0.990000	0.976712	0.990000	1.000000																										0				22						c.(328-330)cCc>cAc		chromosome 12 open reading frame 42							61.0	62.0	62.0					12																	103700054		1837	4086	5923	SO:0001583	missense	374470	0	0					g.chr12:103700054G>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.329C>A	chr12.hg19:g.103700054G>T	ENSP00000367353:p.Pro110His	1					C12orf42_ENST00000548048.1_Missense_Mutation_p.P43H|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H	p.P110H	NM_001099336.1	NP_001092806.1	2	2	4	2.154923	Q96LP6	CL042_HUMAN		5	554	-			Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	0	1	hg19	c.329C>A	CCDS44963.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349636	0.61183	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.214048	0.23758	N	0.044846	T	0.67458	0.2895	L	0.29908	0.895	0.25731	N	0.985263	D	0.89917	1.0	D	0.81914	0.995	T	0.59418	-0.7458	10	0.87932	D	0	-10.6708	12.4434	0.55637	0.0:0.0:1.0:0.0	.	110	Q96LP6	CL042_HUMAN	H	110;43;110;110	ENSP00000447908:P110H;ENSP00000449362:P43H;ENSP00000367353:P110H;ENSP00000447795:P110H	ENSP00000367353:P110H	P	-	2	0	0	C12orf42	102224184	102224184	0.963000	0.33076	0.643000	0.29450	0.071000	0.16799	3.419000	0.52728	2.646000	0.89796	0.449000	0.29647	CCC	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-7.160316	1	0.170000	NM_198521			12	12		113	112	0		1			0	0	17	0		9.992355e-01	0	0	0	0	0	0	12	113
STAB2	55576	broad.mit.edu	37	12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T	rs371810591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											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						ACCAGTGGCTCTGTAGGGGTT	0.468																																						ENST00000388887.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				174						c.(193-195)tCt>tTt		stabilin 2							128.0	124.0	125.0					12																	103984787		2203	4300	6503	SO:0001583	missense	55576	0	0					g.chr12:103984787C>T	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.194C>T	chr12.hg19:g.103984787C>T	ENSP00000373539:p.Ser65Phe	1					U8_ENST00000391292.1_RNA	p.S65F	NM_017564.9	NP_060034.9	2	2	4	2.154923				2	398	+				Missense_Mutation	SNP	ENST00000388887.2	1	1	hg19	c.194C>T	CCDS31888.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111441	0.37242	.	.	ENSG00000136011	ENST00000388887	T	0.35421	1.31	6.02	5.11	0.69529	6.02	5.11	0.69529	.	0.622630	0.16100	N	0.229582	T	0.42154	0.1190	L	0.55743	1.74	0.20489	N	0.999894	P	0.39576	0.679	B	0.43623	0.425	T	0.34453	-0.9828	10	0.56958	D	0.05	.	14.3393	0.66614	0.0:0.8517:0.1483:0.0	.	65	Q8WWQ8	STAB2_HUMAN	F	65	ENSP00000373539:S65F	ENSP00000373539:S65F	S	+	2	0	0	STAB2	102508917	102508917	0.029000	0.19370	0.020000	0.16555	0.007000	0.05969	2.230000	0.42999	1.500000	0.48636	0.655000	0.94253	TCT	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	0		2	2	2	0		0	0	99		99	99	1	2.060000	-4.641956	1	0.170000				133	131		440	428	1		1			0	0	99	0		1	0	0	0	0	0	0	133	440
STAB2	55576	broad.mit.edu	37	12	104015879	104015879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9			stabilin 2											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						TTGGACCCAGCTGTTCATCAG	0.448																																						ENST00000388887.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				174						c.(475-477)agC>agT		stabilin 2							241.0	207.0	219.0					12																	104015879		2203	4300	6503	SO:0001819	synonymous_variant	55576	0	0					g.chr12:104015879C>T	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.477C>T	chr12.hg19:g.104015879C>T		1						p.S159S	NM_017564.9	NP_060034.9	2	2	4	2.154923				5	681	+				Silent	SNP	ENST00000388887.2	1	1	hg19	c.477C>T	CCDS31888.1	1																																																																																								2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				45	44		238	230	1		1			0	0	48	0		1	0	0	0	0	0	0	45	238
STAB2	55576	broad.mit.edu	37	12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											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						AATAAAGCTGCTCAATACTTT	0.368																																						ENST00000388887.2	1.000000	0.310000	1	4.300000e-01	0.600000	0.666907	0.600000	0.530000																										0				174						c.(1288-1290)gCt>gTt		stabilin 2							97.0	90.0	92.0					12																	104046365		2203	4300	6503	SO:0001583	missense	55576	0	0					g.chr12:104046365C>T	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.1289C>T	chr12.hg19:g.104046365C>T	ENSP00000373539:p.Ala430Val	1					RP11-341G23.2_ENST00000551905.1_RNA	p.A430V	NM_017564.9	NP_060034.9	2	2	4	2.154923				12	1493	+				Missense_Mutation	SNP	ENST00000388887.2	1	1	hg19	c.1289C>T	CCDS31888.1	0	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459332	0.63401	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	5.82	0.92795	5.82	5.82	0.92795	FAS1 domain (5);	0.063342	0.64402	D	0.000010	D	0.93504	0.7927	M	0.81682	2.555	0.45035	D	0.998059	P	0.49090	0.919	P	0.49421	0.61	D	0.93115	0.6520	10	0.48119	T	0.1	.	19.7095	0.96089	0.0:1.0:0.0:0.0	.	430	Q8WWQ8	STAB2_HUMAN	V	430	ENSP00000373539:A430V	ENSP00000373539:A430V	A	+	2	0	0	STAB2	102570495	102570495	0.998000	0.40836	0.859000	0.33776	0.104000	0.19210	3.887000	0.56197	2.752000	0.94435	0.655000	0.94253	GCT	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-14.046400	1	0.170000				13	13		302	299	0		1	0		0	0	54	0		9.995324e-01	0	0	0	0	1	0	13	302
STAB2	55576	broad.mit.edu	37	12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9			stabilin 2											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						AAATTGATCTCAAATGCTACT	0.493																																						ENST00000388887.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				174						c.(5032-5034)tCa>tTa		stabilin 2							127.0	113.0	118.0					12																	104122724		2203	4300	6503	SO:0001583	missense	55576	0	0					g.chr12:104122724C>T	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.5033C>T	chr12.hg19:g.104122724C>T	ENSP00000373539:p.Ser1678Leu	1						p.S1678L	NM_017564.9	NP_060034.9	2	2	4	2.154923				48	5237	+				Missense_Mutation	SNP	ENST00000388887.2	1	1	hg19	c.5033C>T	CCDS31888.1	1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442319	0.12164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90732	-2.72	5.56	5.56	0.83823	5.56	5.56	0.83823	FAS1 domain (5);	0.497392	0.20561	N	0.089907	D	0.83917	0.5358	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.71699	-0.4514	10	0.30078	T	0.28	.	13.868	0.63600	0.1534:0.8466:0.0:0.0	.	1678	Q8WWQ8	STAB2_HUMAN	L	1678;365	ENSP00000373539:S1678L	ENSP00000258495:S365L	S	+	2	0	0	STAB2	102646854	102646854	0.221000	0.23642	0.037000	0.18230	0.012000	0.07955	2.099000	0.41767	2.595000	0.87683	0.655000	0.94253	TCA	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.146652	1	0.170000				71	71		384	379	1		1			0	0	74	0		1	0	0	0	0	0	0	71	384
STAB2	55576	broad.mit.edu	37	12	104133248	104133248	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9			stabilin 2											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						AAACCAAAGGTAATTAAGACT	0.443																																						ENST00000388887.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				174						c.e54+2		stabilin 2							103.0	99.0	100.0					12																	104133248		2203	4300	6503	SO:0001630	splice_region_variant	55576	0	0					g.chr12:104133248T>C	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.5754+2T>C	chr12.hg19:g.104133248T>C		1							NM_017564.9	NP_060034.9	2	2	4	2.154923				54	5958	+				Splice_Site	SNP	ENST00000388887.2	1	1	hg19		CCDS31888.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232311	0.79688	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7056	0.69189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	STAB2	102657378	102657378	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.203000	0.65174	2.053000	0.61076	0.533000	0.62120	.	2.397875e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	0	0	1		18	2	2	1		1	1	53		53	53	1	2.060000	-20.000000	1	0.170000		Intron		57	56		246	235	1		1			1	0	53	0		9.999994e-01	0	0	0	0	0	0	57	246
STAB2	55576	broad.mit.edu	37	12	104157272	104157272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.S2497S(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						CCAAACAGTCGGAAGAGGACA	0.527																																						ENST00000388887.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S2497S(1)	lung(1)	174						c.(7489-7491)tcG>tcA		stabilin 2							250.0	244.0	246.0					12																	104157272		2203	4300	6503	SO:0001819	synonymous_variant	55576	1	121412	42				g.chr12:104157272G>A	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.7491G>A	chr12.hg19:g.104157272G>A		0					RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	p.S2497S	NM_017564.9	NP_060034.9	1	2	3	2.003078				68	7695	+				Silent	SNP	ENST00000388887.2	1	1	hg19	c.7491G>A	CCDS31888.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1		2	2	2	0		0	0	264		264	262	1	2.060000	-7.244156	1	0.170000				335	325		1039	1017	0		1	0		0	0	264	0		1	0	0	0	0	1	0	335	1039
NT5DC3	51559	broad.mit.edu	37	12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	403						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443																																						ENST00000392876.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1207-1209)Ggc>Tgc		5'-nucleotidase domain containing 3							164.0	136.0	146.0					12																	104179235		2203	4300	6503	SO:0001583	missense	51559	0	0					g.chr12:104179235C>A	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.1207G>T	chr12.hg19:g.104179235C>A	ENSP00000376615:p.Gly403Cys	0						p.G403C	NM_001031701.2	NP_001026871.1	1	2	3	2.003078	Q86UY8	NT5D3_HUMAN		12	1247	-			Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	1	1	hg19	c.1207G>T	CCDS41824.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831137	0.91036	.	.	ENSG00000111696	ENST00000392876	T	0.28666	1.6	5.46	5.46	0.80206	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	9	.	.	.	-28.532	19.3059	0.94163	0.0:1.0:0.0:0.0	.	403	Q86UY8	NT5D3_HUMAN	C	403	ENSP00000376615:G403C	.	G	-	1	0	0	NT5DC3	102703365	102703365	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_016575			82	81		376	368	1		1	1		0	0	94	0		1	6.137276e-01	0	2	0	9	0	82	376
NT5DC3	51559	broad.mit.edu	37	12	104187733	104187733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104187733C>A	ENST00000392876.3	-	7	836	c.796G>T	c.(796-798)Gca>Tca	p.A266S	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	266			A -> E (in dbSNP:rs12184494).			cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCTTCAATTGCTCTGTACATT	0.403																																						ENST00000392876.3	1.000000	0.160000	4.200000e-01	2.200000e-01	0.300000	0.354488	0.300000	0.290000																										0				30						c.(796-798)Gca>Tca		5'-nucleotidase domain containing 3							231.0	201.0	211.0					12																	104187733		2203	4300	6503	SO:0001583	missense	51559	0	0					g.chr12:104187733C>A	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.796G>T	chr12.hg19:g.104187733C>A	ENSP00000376615:p.Ala266Ser	0					NT5DC3_ENST00000465502.1_5'Flank	p.A266S	NM_001031701.2	NP_001026871.1	1	2	3	2.003078	Q86UY8	NT5D3_HUMAN		7	836	-			Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	1	1	hg19	c.796G>T	CCDS41824.1	0	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140542	0.37825	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.73	5.73	0.89815	5.73	5.73	0.89815	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	L	0.59436	1.845	0.80722	D	1	P	0.39216	0.664	B	0.40329	0.326	T	0.04840	-1.0923	10	0.09590	T	0.72	-20.1698	19.8991	0.96978	0.0:1.0:0.0:0.0	.	266	Q86UY8	NT5D3_HUMAN	S	266	ENSP00000376615:A266S	ENSP00000376615:A266S	A	-	1	0	0	NT5DC3	102711863	102711863	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	4.632000	0.61311	2.706000	0.92434	0.557000	0.71058	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.110227	1	0.170000	NM_016575			13	13		515	505	0		1	1		0	0	78	0		9.994802e-01	4.036441e-02	0	2	0	10	0	13	515
HSP90B1	7184	broad.mit.edu	37	12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	714					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)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353																																						ENST00000299767.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2140-2142)gCt>gAt		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						74.0	72.0	72.0					12																	104340598		2203	4300	6503	SO:0001583	missense	7184	0	0					g.chr12:104340598C>A	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.2141C>A	chr12.hg19:g.104340598C>A	ENSP00000299767:p.Ala714Asp	0						p.A714D	NM_003299.2	NP_003290.1	1	2	3	2.003078	P14625	ENPL_HUMAN		16	2323	+			Q96A97	Missense_Mutation	SNP	ENST00000299767.5	1	1	hg19	c.2141C>A	CCDS9094.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508297|5.508297	0.96386|0.96386	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.50813|.	0.73|.	5.94|5.94	5.94|5.94	0.96194|0.96194	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.100176|.	0.64402|.	D|.	0.000002|.	D|D	0.91580|0.91580	0.7340|0.7340	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94221|0.94221	0.7467|0.7467	10|5	0.87932|.	D|.	0|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714|.	P14625|.	ENPL_HUMAN|.	D|M	714;464|65	ENSP00000299767:A714D|.	ENSP00000299767:A714D|.	A|L	+|+	2|1	0|2	0|2	HSP90B1|HSP90B1	102864728|102864728	102864728|102864728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GCT|CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_003299			68	68		259	257	1		1	1		0	0	63	0		1	1	0	1641	0	3360	0	68	259
TDG	6996	broad.mit.edu	37	12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000544861.1_Missense_Mutation_p.H255R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	398					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1192-1194)cAc>cGc	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							145.0	112.0	123.0					12																	104380828		2203	4300	6503	SO:0001583	missense	6996	0	0					g.chr12:104380828A>G	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1193A>G	chr12.hg19:g.104380828A>G	ENSP00000376611:p.His398Arg	0					TDG_ENST00000544861.1_Missense_Mutation_p.H255R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000266775.9_Missense_Mutation_p.H394R	p.H398R	NM_003211.4	NP_003202.3	1	2	3	2.003078	Q13569	TDG_HUMAN		10	1427	+			Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	1	1	hg19	c.1193A>G	CCDS9095.1	1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.301987	0.10678	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.21543	2.33;2.33;2.34;2.0	5.86	0.0592	0.14331	5.86	0.0592	0.14331	.	0.355996	0.22159	N	0.063819	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.22765	-1.0207	10	0.48119	T	0.1	-7.8928	10.9276	0.47199	0.5614:0.3717:0.0669:0.0	.	194;398;398	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	398;394;255;194	ENSP00000376611:H398R;ENSP00000266775:H394R;ENSP00000445899:H255R;ENSP00000439054:H194R	ENSP00000266775:H394R	H	+	2	0	0	TDG	102904958	102904958	0.024000	0.19004	0.001000	0.08648	0.166000	0.22503	0.710000	0.25748	0.099000	0.17552	-0.353000	0.07706	CAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2	1	0	1		2	2	2	0		0	0	79		79	80	1	2.060000	-20.000000	1	0.170000				82	79		426	410	0		1	1		0	0	79	0		1	9.999816e-01	0	33	0	50	0	82	426
HCFC2	29915	broad.mit.edu	37	12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	138					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)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(412-414)aaA>aaC		host cell factor C2							207.0	198.0	201.0					12																	104461826		2203	4300	6503	SO:0001583	missense	29915	0	0					g.chr12:104461826A>C	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.414A>C	chr12.hg19:g.104461826A>C	ENSP00000229330:p.Lys138Asn	0						p.K138N	NM_013320.2	NP_037452.1	1	2	3	2.003078	Q9Y5Z7	HCFC2_HUMAN		3	518	+			B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	1	1	hg19	c.414A>C	CCDS9097.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005505	0.74932	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.70282	-0.47;-0.33	5.45	4.15	0.48705	5.45	4.15	0.48705	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.79693	2.465	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.81675	-0.0825	10	0.66056	D	0.02	-20.5373	5.5982	0.17339	0.8047:0.0:0.1953:0.0	.	138	Q9Y5Z7	HCFC2_HUMAN	N	138;49	ENSP00000229330:K138N;ENSP00000447952:K49N	ENSP00000229330:K138N	K	+	3	2	2	HCFC2	102985956	102985956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.197000	0.70478	0.402000	0.26972	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000	NM_013320			208	206		836	820	1		1	1		0	0	161	0		1	9.934997e-01	0	6	0	27	0	208	836
EID3	493861	broad.mit.edu	37	12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000527879.1	+	1	290	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGCTCACCGCTGACGAGGA	0.637																																						ENST00000527879.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(94-96)Gct>Act		EP300 interacting inhibitor of differentiation 3							28.0	32.0	31.0					12																	104697806		2120	4222	6342	SO:0001583	missense	493861	0	0					g.chr12:104697806G>A	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.94G>A	chr12.hg19:g.104697806G>A	ENSP00000435619:p.Ala32Thr	0					TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_Intron	p.A32T	NM_001008394.2	NP_001008395.1	1	2	3	2.003078				1	290	+				Missense_Mutation	SNP	ENST00000527879.1	1	1	hg19	c.94G>A	CCDS53822.1	1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376748	0.24857	.	.	ENSG00000255150	ENST00000527879	T	0.44083	0.93	3.8	1.95	0.26073	3.8	1.95	0.26073	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.13407	0.009	T	0.17319	-1.0373	9	0.14656	T	0.56	.	6.2809	0.21007	0.2155:0.0:0.7845:0.0	.	32	Q8N140	EID3_HUMAN	T	32	ENSP00000435619:A32T	ENSP00000435619:A32T	A	+	1	0	0	EID3	103221936	103221936	0.048000	0.20356	0.000000	0.03702	0.008000	0.06430	3.731000	0.55013	0.409000	0.25649	0.555000	0.69702	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001008394			35	35		131	128	1		1	0		0	0	32	0		1	4.599631e-01	0	1	0	6	0	35	131
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					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.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567																																						ENST00000303694.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.N223N(1)	large_intestine(1)	18						c.(667-669)aaC>aaT		carbohydrate (chondroitin 4) sulfotransferase 11							126.0	107.0	114.0					12																	105151191		2203	4300	6503	SO:0001819	synonymous_variant	50515	3	121412	33				g.chr12:105151191C>T	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.669C>T	chr12.hg19:g.105151191C>T		0					CHST11_ENST00000549260.1_Silent_p.N218N	p.N223N	NM_018413.5	NP_060883.1	1	2	3	2.003078	Q9NPF2	CHSTB_HUMAN		3	1108	+			A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	1	1	hg19	c.669C>T	CCDS9099.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_018413			62	61		299	295	1		1	0		0	0	71	0		1	1	0	0	0	265	0	62	299
ALDH1L2	160428	broad.mit.edu	37	12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	709	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)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443																																						ENST00000258494.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2125-2127)Ctt>Ttt		aldehyde dehydrogenase 1 family, member L2							92.0	85.0	87.0					12																	105431901		2203	4300	6503	SO:0001583	missense	160428	3	121412	30				g.chr12:105431901G>A	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.2125C>T	chr12.hg19:g.105431901G>A	ENSP00000258494:p.Leu709Phe	0					C12orf45_ENST00000548583.1_Intron	p.L709F	NM_001034173.3	NP_001029345.2	1	2	3	2.003078	Q3SY69	AL1L2_HUMAN		18	2265	-			Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	1	1	hg19	c.2125C>T	CCDS31891.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090850	0.76756	.	.	ENSG00000136010	ENST00000258494	T	0.80653	-1.4	5.47	3.62	0.41486	5.47	3.62	0.41486	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.153962	0.64402	D	0.000019	D	0.85813	0.5784	M	0.75447	2.3	0.80722	D	1	D	0.57899	0.981	P	0.54372	0.75	D	0.86615	0.1875	10	0.62326	D	0.03	.	14.7689	0.69659	0.0:0.0:0.737:0.263	.	709	Q3SY69	AL1L2_HUMAN	F	709	ENSP00000258494:L709F	ENSP00000258494:L709F	L	-	1	0	0	ALDH1L2	103956031	103956031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	0.647000	0.30713	0.650000	0.86243	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	XM_090294			65	65		242	229	1		1	1		0	0	41	0		1	9.994985e-01	0	5	0	40	0	65	242
ALDH1L2	160428	broad.mit.edu	37	12	105462502	105462502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105462502C>T	ENST00000258494.9	-	4	729	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	197	GART.				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)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTAACCATGGCCTTGATTCCT	0.338																																						ENST00000258494.9	1.000000	0.160000	4.600000e-01	2.300000e-01	0.320000	0.376312	0.320000	0.310000																										0				35						c.(589-591)Gcc>Acc		aldehyde dehydrogenase 1 family, member L2							79.0	76.0	77.0					12																	105462502		2203	4300	6503	SO:0001583	missense	160428	0	0					g.chr12:105462502C>T	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.589G>A	chr12.hg19:g.105462502C>T	ENSP00000258494:p.Ala197Thr	0					ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	p.A197T	NM_001034173.3	NP_001029345.2	1	2	3	2.003078	Q3SY69	AL1L2_HUMAN		4	729	-			Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	0	1	hg19	c.589G>A	CCDS31891.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.553253	0.96501	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.77358	-1.09;-1.09	6.06	6.06	0.98353	6.06	6.06	0.98353	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89594	0.6760	M	0.86420	2.815	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	D	0.90078	0.4168	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	197	Q3SY69	AL1L2_HUMAN	T	197	ENSP00000258494:A197T;ENSP00000389608:A197T	ENSP00000258494:A197T	A	-	1	0	0	ALDH1L2	103986632	103986632	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.359832	1	0.170000	XM_090294			10	10		374	363	0		1	0		0	0	65	0		9.964911e-01	1.920804e-01	0	0	0	27	0	10	374
APPL2	55198	broad.mit.edu	37	12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000539978.2_Missense_Mutation_p.N485T|APPL2_ENST00000551662.1_Missense_Mutation_p.N534T	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	448					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)			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						GCGGAAGATGTTATGAATAGC	0.413																																						ENST00000258530.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1582-1584)aAc>aCc		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							156.0	138.0	144.0					12																	105582102		2203	4300	6503	SO:0001583	missense	55198	0	0					g.chr12:105582102T>G	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.1583A>C	chr12.hg19:g.105582102T>G	ENSP00000258530:p.Asn528Thr	0					APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	p.N528T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	1	2	3	2.003078	Q06481	APLP2_HUMAN		17	1808	-			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	1	1	hg19	c.1583A>C	CCDS9101.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283074	0.80803	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.36	5.36	0.76844	5.36	5.36	0.76844	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.83275	0.996;0.993;0.996	T	0.53795	-0.8388	10	0.87932	D	0	-27.8493	15.3491	0.74368	0.0:0.0:0.0:1.0	.	534;485;528	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	528;485;534;59	ENSP00000258530:N528T;ENSP00000444472:N485T;ENSP00000446917:N534T;ENSP00000446510:N59T	ENSP00000258530:N528T	N	-	2	0	0	APPL2	104106232	104106232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.024000	0.59613	0.523000	0.50628	AAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_018171			99	98		426	422	1		1	1		0	0	83	0		1	1	0	60	0	149	0	99	426
NUAK1	9891	broad.mit.edu	37	12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	75	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)			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						GCCAGAAAACCTCTCGGTGGC	0.667																																						ENST00000261402.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				37						c.(223-225)aGg>aTg		NUAK family, SNF1-like kinase, 1							51.0	42.0	45.0					12																	106532208		2203	4300	6503	SO:0001583	missense	9891	0	0					g.chr12:106532208C>A	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.224G>T	chr12.hg19:g.106532208C>A	ENSP00000261402:p.Arg75Met	0						p.R75M	NM_014840.2	NP_055655.1	1	2	3	2.003078	O60285	NUAK1_HUMAN		1	1603	-			A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	1	1	hg19	c.224G>T	CCDS31892.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146817	0.77888	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.67345	-0.26	4.07	4.07	0.47477	4.07	4.07	0.47477	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	0.000029	T	0.79493	0.4455	M	0.71871	2.18	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81258	-0.1014	10	0.46703	T	0.11	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	75	O60285	NUAK1_HUMAN	M	75	ENSP00000261402:R75M	ENSP00000261402:R75M	R	-	2	0	0	NUAK1	105056338	105056338	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.197000	0.77814	1.832000	0.53329	0.313000	0.20887	AGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_014840			31	29		155	152	0		1	1		0	0	32	0		1	9.959224e-01	0	3	0	43	0	31	155
CKAP4	10970	broad.mit.edu	37	12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522																																						ENST00000378026.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(883-885)gaG>gaT		cytoskeleton-associated protein 4							148.0	149.0	148.0					12																	106633726		2203	4300	6503	SO:0001583	missense	10970	0	0					g.chr12:106633726C>A	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.885G>T	chr12.hg19:g.106633726C>A	ENSP00000367265:p.Glu295Asp	0					CKAP4_ENST00000552828.1_5'UTR	p.E295D	NM_006825.3	NP_006816.2	1	2	3	2.003078	Q07065	CKAP4_HUMAN		2	1021	-			Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	1	1	hg19	c.885G>T	CCDS9103.1	1	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135179	0.21123	.	.	ENSG00000136026	ENST00000378026	T	0.81415	-1.49	5.54	0.0734	0.14390	5.54	0.0734	0.14390	.	0.267058	0.41823	D	0.000806	D	0.82756	0.5106	M	0.75264	2.295	0.23138	N	0.998234	D	0.55385	0.971	P	0.55749	0.783	T	0.73920	-0.3830	10	0.35671	T	0.21	-5.3382	8.4601	0.32923	0.0:0.6124:0.1457:0.2418	.	295	Q07065	CKAP4_HUMAN	D	295	ENSP00000367265:E295D	ENSP00000367265:E295D	E	-	3	2	2	CKAP4	105157856	105157856	0.003000	0.15002	0.052000	0.19188	0.711000	0.40976	-0.444000	0.06854	-0.221000	0.09973	-0.253000	0.11424	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000				145	144		677	666	1		1	1		0	0	144	0		1	1	0	44	0	389	0	145	677
POLR3B	55703	broad.mit.edu	37	12	106772100	106772100	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	184					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)			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						AAGAGCAGCTGTCTAAGAACA	0.413																																						ENST00000228347.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(550-552)ctG>ctA		polymerase (RNA) III (DNA directed) polypeptide B							154.0	146.0	148.0					12																	106772100		2203	4300	6503	SO:0001819	synonymous_variant	55703	0	0					g.chr12:106772100G>A	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.552G>A	chr12.hg19:g.106772100G>A		0					POLR3B_ENST00000539066.1_Silent_p.L126L	p.L184L	NM_018082.5	NP_060552.4	1	2	3	2.003078	Q9NW08	RPC2_HUMAN		8	774	+			A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	1	1	hg19	c.552G>A	CCDS9105.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_018082			95	93		392	386	1		1	1		0	0	96	0		1	9.527280e-01	0	8	0	15	0	95	392
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					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.D863N(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						AGGAGCAACAGACTCATATAT	0.378																																						ENST00000228347.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										1	Substitution - Missense(1)	p.D863N(1)	large_intestine(1)	57						c.(2587-2589)Gac>Tac		polymerase (RNA) III (DNA directed) polypeptide B							68.0	67.0	67.0					12																	106857272		2203	4300	6503	SO:0001583	missense	55703	0	0					g.chr12:106857272G>T	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.2587G>T	chr12.hg19:g.106857272G>T	ENSP00000228347:p.Asp863Tyr	0					POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	p.D863Y	NM_018082.5	NP_060552.4	1	2	3	2.003078	Q9NW08	RPC2_HUMAN		23	2809	+			A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	1	1	hg19	c.2587G>T	CCDS9105.1	1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902964	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72505	-0.66;-0.66	5.73	5.73	0.89815	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.65015	0.2651	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.58885	-0.7557	10	0.49607	T	0.09	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	Y	863;805	ENSP00000228347:D863Y;ENSP00000445721:D805Y	ENSP00000228347:D863Y	D	+	1	0	0	POLR3B	105381402	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_018082			44	44		235	232	1		1	1		0	0	75	0		1	9.278533e-01	0	5	0	21	0	44	235
RIC8B	55188	broad.mit.edu	37	12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392839.2	+	3	288	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000392837.4_Missense_Mutation_p.T61I|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	61					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)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388																																						ENST00000392839.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(181-183)aCa>aTa		RIC8 guanine nucleotide exchange factor B							93.0	88.0	89.0					12																	107208523		2203	4300	6503	SO:0001583	missense	55188	0	0					g.chr12:107208523C>T	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.182C>T	chr12.hg19:g.107208523C>T	ENSP00000376583:p.Thr61Ile	0					RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000392837.4_Missense_Mutation_p.T61I	p.T61I	NM_018157.2	NP_060627.2	1	2	3	2.003078	Q9NVN3	RIC8B_HUMAN		3	288	+			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	1	1	hg19	c.182C>T	CCDS9109.2	1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100814	0.37048	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.66460	0.94;0.94;0.94;-0.21	5.36	5.36	0.76844	5.36	5.36	0.76844	Armadillo-type fold (1);	0.455332	0.26352	N	0.024867	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B;B;B	0.20988	0.05;0.029;0.037	B;B;B	0.18871	0.023;0.016;0.014	T	0.50101	-0.8867	10	0.59425	D	0.04	-5.3945	19.457	0.94897	0.0:1.0:0.0:0.0	.	21;61;61	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	I	61;61;21;45	ENSP00000376582:T61I;ENSP00000376583:T61I;ENSP00000347662:T21I;ENSP00000448743:T45I	ENSP00000347662:T21I	T	+	2	0	0	RIC8B	105732653	105732653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.676000	0.91093	0.655000	0.94253	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_018157			83	81		342	338	1		1	1		0	0	92	0		1	9.442559e-01	0	7	0	15	0	83	342
MAGOHB	55110	broad.mit.edu	37	12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	63					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373																																						ENST00000320756.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999377	0.990000	1.000000																										0				4						c.(187-189)aaG>aaT		mago-nashi homolog B (Drosophila)							117.0	117.0	117.0					12																	10762505		2203	4300	6503	SO:0001583	missense	55110	0	0					g.chr12:10762505C>A		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.189G>T	chr12.hg19:g.10762505C>A	ENSP00000319240:p.Lys63Asn	0					MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N|MAGOHB_ENST00000381881.2_Intron	p.K63N	NM_018048.3	NP_060518.1	1	2	3	2.002308	Q96A72	MGN2_HUMAN		3	279	-				Missense_Mutation	SNP	ENST00000320756.2	1	1	hg19	c.189G>T	CCDS8628.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713933	0.68730	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	2.8	0.32819	4.61	2.8	0.32819	.	0.000000	0.85682	U	0.000000	T	0.71151	0.3306	M	0.93678	3.445	0.80722	D	1	P	0.40180	0.705	B	0.44108	0.441	T	0.73490	-0.3966	9	0.87932	D	0	.	6.4197	0.21736	0.0:0.7092:0.0:0.2908	.	63	Q96A72	MGN2_HUMAN	N	17;63	.	ENSP00000319240:K63N	K	-	3	2	2	MAGOHB	10653772	10653772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.879000	0.35944	0.591000	0.81541	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-3.160365	1	0.170000	NM_018048			22	22		132	127	1		1	1		0	0	40	0		9.999990e-01	9.999955e-01	0	21	0	110	0	22	132
STYK1	55359	broad.mit.edu	37	12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423										HNSCC(73;0.22)																												ENST00000075503.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(973-975)Cca>Tca		serine/threonine/tyrosine kinase 1							178.0	167.0	171.0					12																	10774566		2203	4300	6503	SO:0001583	missense	55359	0	0					g.chr12:10774566G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.973C>T	chr12.hg19:g.10774566G>A	ENSP00000075503:p.Pro325Ser	0	HNSCC(73;0.22)					p.P325S	NM_018423.2	NP_060893.2	1	2	3	2.002308	Q6J9G0	STYK1_HUMAN		10	1493	-			B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	1	1	hg19	c.973C>T	CCDS8629.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000060140	ENST00000075503	T	0.70631	-0.5	5.38	5.38	0.77491	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082542	0.51477	D	0.000083	T	0.61160	0.2325	L	0.31120	0.905	0.48632	D	0.999687	P	0.38677	0.642	B	0.43052	0.406	T	0.58584	-0.7611	10	0.02654	T	1	-12.4581	16.6127	0.84892	0.0:0.0:1.0:0.0	.	325	Q6J9G0	STYK1_HUMAN	S	325	ENSP00000075503:P325S	ENSP00000075503:P325S	P	-	1	0	0	STYK1	10665833	10665833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.090000	0.71397	2.514000	0.84764	0.655000	0.94253	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_018423			81	79		324	320	0		1	1		0	0	98	0		1	8.984505e-01	0	8	0	10	0	81	324
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000008527.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R263*(1)	large_intestine(1)	29						c.(787-789)Cga>Tga		cryptochrome circadian clock 1							67.0	68.0	68.0					12																	107393758		2203	4300	6503	SO:0001587	stop_gained	1407	0	0					g.chr12:107393758G>A	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	chr12.hg19:g.107393758G>A	ENSP00000008527:p.Arg263*	0						p.R263*	NM_004075.4	NP_004066.1	1	2	3	2.003078	Q16526	CRY1_HUMAN		6	1654	-				Nonsense_Mutation	SNP	ENST00000008527.5	0	1	hg19	c.787C>T	CCDS9112.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	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	2	CRY1	105917888	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	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.999880	1	0.170000	NM_004075			46	44		235	232	1		1	0		0	0	41	0		1	9.993394e-01	0	1	0	58	0	46	235
BTBD11	121551	broad.mit.edu	37	12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	394						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGACCCACAGCGGTCAAACA	0.542																																						ENST00000280758.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1180-1182)caG>caT		BTB (POZ) domain containing 11							121.0	112.0	115.0					12																	107914310		2203	4300	6503	SO:0001583	missense	121551	0	0					g.chr12:107914310G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1182G>T	chr12.hg19:g.107914310G>T	ENSP00000280758:p.Gln394His	0					BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	p.Q394H	NM_001018072.1	NP_001018082.1	1	2	3	2.003078	A6QL63	BTBDB_HUMAN		2	1710	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.1182G>T	CCDS31893.1	1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519401	0.44866	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48201	1.25;1.32;1.29;0.82	4.1	2.22	0.28083	4.1	2.22	0.28083	Histone-fold (1);	0.259153	0.33040	N	0.005353	T	0.52141	0.1716	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.991	D;D;P	0.78314	0.991;0.979;0.793	T	0.49263	-0.8958	10	0.49607	T	0.09	.	7.2142	0.25951	0.3458:0.0:0.6542:0.0	.	394;394;394	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	394;394;394;28	ENSP00000280758:Q394H;ENSP00000413889:Q394H;ENSP00000447319:Q394H;ENSP00000407416:Q28H	ENSP00000280758:Q394H	Q	+	3	2	2	BTBD11	106438440	106438440	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	1.748000	0.38308	1.013000	0.39391	0.655000	0.94253	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_152322			107	106		441	429	1		1	0		0	0	110	0		1	3.357421e-01	0	0	0	6	0	107	441
BTBD11	121551	broad.mit.edu	37	12	107937887	107937887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	487						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAACGTGGAGCCTTCCAAAG	0.572																																						ENST00000280758.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1459-1461)gaG>gaA		BTB (POZ) domain containing 11							56.0	51.0	53.0					12																	107937887		2203	4300	6503	SO:0001819	synonymous_variant	121551	0	0					g.chr12:107937887G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1461G>A	chr12.hg19:g.107937887G>A		0					BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	p.E487E	NM_001018072.1	NP_001018082.1	1	2	3	2.003078	A6QL63	BTBDB_HUMAN		3	1989	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	1	1	hg19	c.1461G>A	CCDS31893.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_152322			45	45		197	196	1		1	1		0	0	63	0		1	2.403940e-01	0	4	0	1	0	45	197
BTBD11	121551	broad.mit.edu	37	12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	844						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATCCAGTGCTTGTTAAAGG	0.582																																						ENST00000280758.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2530-2532)tgC>tgA		BTB (POZ) domain containing 11							71.0	68.0	69.0					12																	108013842		2203	4300	6503	SO:0001587	stop_gained	121551	0	0					g.chr12:108013842C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2532C>A	chr12.hg19:g.108013842C>A	ENSP00000280758:p.Cys844*	0					BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|RP11-128P10.1_ENST00000548473.1_RNA	p.C844*	NM_001018072.1	NP_001018082.1	1	2	3	2.003078	A6QL63	BTBDB_HUMAN		11	3060	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	0	1	hg19	c.2532C>A	CCDS31893.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.460790	0.98299	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.04	2.8	0.32819	5.04	2.8	0.32819	.	0.135156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4877	0.38940	0.0:0.7361:0.0:0.2639	.	.	.	.	X	844;725;844;381	.	ENSP00000280758:C844X	C	+	3	2	2	BTBD11	106537972	106537972	0.777000	0.28628	0.997000	0.53966	0.983000	0.72400	0.234000	0.17930	1.079000	0.41038	0.650000	0.86243	TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_152322			73	72		204	200	1		1	1		0	0	50	0		1	7.304047e-01	0	2	0	7	0	73	204
BTBD11	121551	broad.mit.edu	37	12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1067						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCAGCTCCTGTATGACAA	0.473																																						ENST00000280758.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3199-3201)Ctg>Atg		BTB (POZ) domain containing 11							124.0	113.0	117.0					12																	108051379		2203	4300	6503	SO:0001583	missense	121551	0	0					g.chr12:108051379C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3199C>A	chr12.hg19:g.108051379C>A	ENSP00000280758:p.Leu1067Met	0					BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M	p.L1067M	NM_001018072.1	NP_001018082.1	1	2	3	2.003078	A6QL63	BTBDB_HUMAN		17	3727	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.3199C>A	CCDS31893.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568358	0.65651	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.47177	1.05;1.26;0.85;1.1	5.84	4.77	0.60923	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.67757	-0.5588	10	0.87932	D	0	.	9.906	0.41377	0.0:0.8103:0.0:0.1897	.	604;1067	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1067;948;604;146	ENSP00000280758:L1067M;ENSP00000413889:L948M;ENSP00000349690:L604M;ENSP00000448322:L146M	ENSP00000280758:L1067M	L	+	1	2	2	BTBD11	106575509	106575509	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	1.777000	0.38604	2.760000	0.94817	0.655000	0.94253	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.843964	1	0.170000	NM_152322			88	87		293	285	1		1	1		0	0	81	0		1	5.837345e-01	0	3	0	5	0	88	293
PWP1	11137	broad.mit.edu	37	12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	49					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488																																						ENST00000412830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(145-147)gGc>gAc		PWP1 homolog (S. cerevisiae)							116.0	117.0	117.0					12																	108082406		2203	4300	6503	SO:0001583	missense	11137	0	0					g.chr12:108082406G>A	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.146G>A	chr12.hg19:g.108082406G>A	ENSP00000387365:p.Gly49Asp	0					PWP1_ENST00000541166.1_5'UTR	p.G49D	NM_007062.1	NP_008993.1	1	2	3	2.003078	Q13610	PWP1_HUMAN		3	314	+			A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	1	1	hg19	c.146G>A	CCDS9114.1	1	.	.	.	.	.	.	.	.	.	.	.	7.797	0.712842	0.15306	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327	T	0.68903	-0.36	5.69	1.58	0.23477	5.69	1.58	0.23477	.	0.406630	0.30869	N	0.008716	T	0.29223	0.0727	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.02654	T	1	.	1.6877	0.02845	0.266:0.1436:0.4437:0.1466	.	49	Q13610	PWP1_HUMAN	D	49	ENSP00000387365:G49D	ENSP00000258531:G49D	G	+	2	0	0	PWP1	106606536	106606536	0.979000	0.34478	1.000000	0.80357	0.699000	0.40488	1.779000	0.38624	0.730000	0.32425	0.478000	0.44815	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_007062			67	67		338	329	1		1	1		0	0	76	0		1	1	0	75	0	142	0	67	338
PWP1	11137	broad.mit.edu	37	12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	82					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522																																						ENST00000412830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(244-246)Gag>Aag		PWP1 homolog (S. cerevisiae)							140.0	129.0	133.0					12																	108082504		2203	4300	6503	SO:0001583	missense	11137	1	121412	26				g.chr12:108082504G>A	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.244G>A	chr12.hg19:g.108082504G>A	ENSP00000387365:p.Glu82Lys	0					PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	p.E82K	NM_007062.1	NP_008993.1	1	2	3	2.003078	Q13610	PWP1_HUMAN		3	412	+			A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	1	1	hg19	c.244G>A	CCDS9114.1	1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178588	0.38511	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70749	-0.5;-0.51	5.82	4.92	0.64577	5.82	4.92	0.64577	.	0.296366	0.41396	D	0.000891	T	0.52773	0.1755	N	0.20357	0.565	0.30325	N	0.787161	B	0.06786	0.001	B	0.01281	0.0	T	0.42241	-0.9463	10	0.07990	T	0.79	.	14.0991	0.65042	0.0:0.2979:0.7021:0.0	.	82	Q13610	PWP1_HUMAN	K	82;20;82;82;82;20	ENSP00000387365:E82K;ENSP00000445249:E20K	ENSP00000258531:E82K	E	+	1	0	0	PWP1	106606634	106606634	1.000000	0.71417	0.063000	0.19743	0.792000	0.44763	4.115000	0.57865	1.414000	0.47017	0.579000	0.79373	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_007062			55	54		192	185	1		1	1		0	0	40	0		1	1	0	65	0	144	0	55	192
PRDM4	11108	broad.mit.edu	37	12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	789					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)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418																																						ENST00000228437.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2365-2367)gCt>gTt		PR domain containing 4							157.0	148.0	151.0					12																	108128027		2203	4300	6503	SO:0001583	missense	11108	0	0					g.chr12:108128027G>A	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.2366C>T	chr12.hg19:g.108128027G>A	ENSP00000228437:p.Ala789Val	0					RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	p.A789V	NM_012406.3	NP_036538.3	1	2	3	2.003078	Q9UKN5	PRDM4_HUMAN		12	2825	-			Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	1	1	hg19	c.2366C>T	CCDS9115.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019506	0.54576	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	6.03	4.12	0.48240	6.03	4.12	0.48240	.	0.097739	0.64402	D	0.000002	T	0.06371	0.0164	N	0.12182	0.205	0.25555	N	0.987046	B	0.20052	0.041	B	0.17098	0.017	T	0.24764	-1.0151	10	0.66056	D	0.02	0.0607	8.4723	0.32993	0.0821:0.2235:0.6943:0.0	.	789	Q9UKN5	PRDM4_HUMAN	V	789	ENSP00000228437:A789V	ENSP00000228437:A789V	A	-	2	0	0	PRDM4	106652157	106652157	0.983000	0.35010	0.412000	0.26496	0.855000	0.48748	3.027000	0.49697	1.569000	0.49696	-0.263000	0.10527	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	0	0	0		2	2	2	0		0	0	116		116	114	1	2.060000	-20.000000	1	0.170000	NM_012406			167	163		611	595	1		1	1		0	0	116	0		1	9.999939e-01	0	15	0	49	0	167	611
PRDM4	11108	broad.mit.edu	37	12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	RP11-864J10.4_ENST00000546714.1_RNA|PRDM4_ENST00000547268.1_5'Flank	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	358					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)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413																																						ENST00000228437.5	1.000000	0.500000	9.900000e-01	6.300000e-01	0.780000	0.793439	0.780000	1.000000																										0				20						c.(1072-1074)Caa>Taa		PR domain containing 4							108.0	83.0	92.0					12																	108145246		2203	4300	6503	SO:0001587	stop_gained	11108	0	0					g.chr12:108145246G>A	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.1072C>T	chr12.hg19:g.108145246G>A	ENSP00000228437:p.Gln358*	0					PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	p.Q358*	NM_012406.3	NP_036538.3	1	2	3	2.003078	Q9UKN5	PRDM4_HUMAN		5	1531	-			Q9UFA6	Nonsense_Mutation	SNP	ENST00000228437.5	0	1	hg19	c.1072C>T	CCDS9115.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.533768	0.96460	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.052480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	358;103	.	ENSP00000228437:Q358X	Q	-	1	0	0	PRDM4	106669376	106669376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.885000	0.99019	0.655000	0.94253	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.142702	1	0.170000	NM_012406			22	21		317	309	0		1	1		0	0	52	0		9.999985e-01	8.803200e-01	0	2	0	54	0	22	317
ASCL4	121549	broad.mit.edu	37	12	108169235	108169235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	ENST00000342331.4	+	1	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAACGAGCGCGAGCGGCAGC	0.716																																					GBM(170;776 3695 11650)	ENST00000342331.4	1.000000	0.760000	1	9.900000e-01	0.990000	0.984471	0.990000	1.000000																										0				13						c.(241-243)cgC>cgT		achaete-scute family bHLH transcription factor 4							4.0	5.0	5.0					12																	108169235		1904	3809	5713	SO:0001819	synonymous_variant	121549	0	0					g.chr12:108169235C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.243C>T	chr12.hg19:g.108169235C>T		0						p.R81R	NM_203436.2	NP_982260.2	1	2	3	2.003078	Q6XD76	ASCL4_HUMAN		1	1074	+			Q7RTS2	Silent	SNP	ENST00000342331.4	0	1	hg19	c.243C>T	CCDS31894.2	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.039420	1	0.170000	NM_203436			8	8		51	46	0		1			0	0	8	0		9.871628e-01	0	0	0	0	0	0	8	51
WSCD2	9671	broad.mit.edu	37	12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577																																						ENST00000332082.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1126-1128)gGc>gAc		WSC domain containing 2							47.0	46.0	46.0					12																	108626655		2067	4218	6285	SO:0001583	missense	9671	0	0					g.chr12:108626655G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1127G>A	chr12.hg19:g.108626655G>A	ENSP00000331933:p.Gly376Asp	0					WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D	p.G376D			1	2	3	2.003078	Q2TBF2	WSCD2_HUMAN		8	1945	+			B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	1	1	hg19	c.1127G>A	CCDS41828.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764889	0.90020	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;4.64;1.51;4.64	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.54029	-0.8354	10	0.56958	D	0.05	-32.4055	17.703	0.88301	0.0:0.0:1.0:0.0	.	376;376	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	D	376	ENSP00000448047:G376D;ENSP00000261400:G376D;ENSP00000331933:G376D;ENSP00000447272:G376D	ENSP00000261400:G376D	G	+	2	0	0	WSCD2	107150785	107150785	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_014653			42	42		186	185	1		1	0		0	0	49	0		1	0	0	0	0	1	0	42	186
CMKLR1	1240	broad.mit.edu	37	12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	71					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517																																						ENST00000312143.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(211-213)aAg>aTg		chemokine-like receptor 1							135.0	135.0	135.0					12																	108686528		2040	4194	6234	SO:0001583	missense	1240	0	0					g.chr12:108686528T>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.212A>T	chr12.hg19:g.108686528T>A	ENSP00000311733:p.Lys71Met	0					CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M	p.K71M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	1	2	3	2.003078	Q99788	CML1_HUMAN		3	575	-			A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	1	1	hg19	c.212A>T	CCDS44965.1	1	.	.	.	.	.	.	.	.	.	.	t	17.48	3.400342	0.62177	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.0	2.4	0.29515	5.0	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.159847	0.53938	D	0.000046	T	0.58481	0.2125	M	0.74258	2.255	0.40904	D	0.984177	D	0.76494	0.999	D	0.73380	0.98	T	0.57757	-0.7756	10	0.87932	D	0	.	7.4535	0.27252	0.0:0.2193:0.0:0.7807	.	71	Q99788	CML1_HUMAN	M	71;71;69;69;71;71;71	ENSP00000311733:K71M;ENSP00000401293:K71M;ENSP00000380803:K69M;ENSP00000447579:K69M;ENSP00000449716:K71M;ENSP00000448925:K71M;ENSP00000448362:K71M	ENSP00000311733:K71M	K	-	2	0	0	CMKLR1	107210658	107210658	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.820000	0.27323	0.177000	0.19895	0.387000	0.25754	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				75	72		301	292	1		1	0		0	0	65	0		1	9.996589e-01	0	0	0	50	0	75	301
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	409	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582																																						ENST00000552695.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G409G(1)	large_intestine(1)	15						c.(1225-1227)ggC>ggT		FIC domain containing							101.0	94.0	97.0					12																	108913102		2203	4300	6503	SO:0001819	synonymous_variant	11153	1	121412	28				g.chr12:108913102C>T	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1227C>T	chr12.hg19:g.108913102C>T		0					FICD_ENST00000361549.2_3'UTR	p.G409G	NM_007076.2	NP_009007.2	1	2	3	2.003078	Q9BVA6	FICD_HUMAN		3	1462	+			O75406	Silent	SNP	ENST00000552695.1	1	1	hg19	c.1227C>T	CCDS9116.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_007076			60	57		253	248	1		1	1		0	0	64	0		1	9.969270e-01	0	12	0	28	0	60	253
SSH1	54434	broad.mit.edu	37	12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1031	Interaction with YWHAG.				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)			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						TTCCCTGATGGTTTGGAGGTT	0.562																																						ENST00000326495.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3091-3093)Cca>Tca		slingshot protein phosphatase 1							98.0	104.0	102.0					12																	109181823		2203	4300	6503	SO:0001583	missense	54434	0	0					g.chr12:109181823G>A	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.3091C>T	chr12.hg19:g.109181823G>A	ENSP00000315713:p.Pro1031Ser	0					SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	p.P1031S	NM_018984.3	NP_061857.3	1	2	3	2.003078	Q8WYL5	SSH1_HUMAN		15	3184	-			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	1	1	hg19	c.3091C>T	CCDS9121.1	1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722921	0.15439	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.86;2.71	5.0	-2.85	0.05734	5.0	-2.85	0.05734	.	3.429030	0.00447	N	0.000081	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24261	-1.0165	10	0.18276	T	0.48	1.3753	4.7863	0.13227	0.3481:0.0856:0.4793:0.0871	.	1031;719	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	719;1031	ENSP00000353374:P719S;ENSP00000315713:P1031S	ENSP00000315713:P1031S	P	-	1	0	0	SSH1	107705952	107705952	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.027000	0.13621	-0.805000	0.04404	-0.813000	0.03139	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_018984			124	121		539	526	1		1	1		0	0	133	0		1	9.999996e-01	0	9	0	83	0	124	539
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	190					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)			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						CGGGCCACTTCGCAGGCCTTG	0.592																																						ENST00000326495.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(568-570)Gaa>Aaa		slingshot protein phosphatase 1							38.0	41.0	40.0					12																	109201572		2203	4300	6503	SO:0001583	missense	54434	0	0					g.chr12:109201572C>T	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.568G>A	chr12.hg19:g.109201572C>T	ENSP00000315713:p.Glu190Lys	0					SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	p.E190K	NM_018984.3	NP_061857.3	1	2	3	2.003078	Q8WYL5	SSH1_HUMAN		8	661	-			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	1	1	hg19	c.568G>A	CCDS9121.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920053	0.92249	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438	T;T;T	0.37058	1.22;1.22;1.22	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.69078	0.87;0.997;0.87;0.906	P;P;B;B	0.59546	0.454;0.859;0.269;0.372	T	0.47182	-0.9137	10	0.36615	T	0.2	-25.9072	18.0508	0.89347	0.0:1.0:0.0:0.0	.	201;94;190;190	Q8WYL5-5;Q8WYL5-3;Q8WYL5-2;Q8WYL5	.;.;.;SSH1_HUMAN	K	190;190;201;94	ENSP00000315713:E190K;ENSP00000448824:E190K;ENSP00000326107:E201K	ENSP00000307610:E94K	E	-	1	0	0	SSH1	107725701	107725701	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.747000	0.85070	2.488000	0.83962	0.655000	0.94253	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_018984			50	49		210	207	1		1	1		0	0	54	0		1	9.999486e-01	0	8	0	57	0	50	210
SSH1	54434	broad.mit.edu	37	12	109205098	109205098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000326495.5	-	6	501	c.408C>A	c.(406-408)agC>agA	p.S136R	SSH1_ENST00000360239.3_De_novo_Start_OutOfFrame|SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	136					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)			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						CAATGGTGCAGCTTTTACTGC	0.522																																						ENST00000326495.5	1.000000	0.090000	3.800000e-01	1.500000e-01	0.240000	0.301017	0.240000	0.210000																										0				38						c.(406-408)agC>agA		slingshot protein phosphatase 1							164.0	137.0	146.0					12																	109205098		2203	4300	6503	SO:0001583	missense	54434	0	0					g.chr12:109205098G>T	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.408C>A	chr12.hg19:g.109205098G>T	ENSP00000315713:p.Ser136Arg	0					SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000360239.3_De_novo_Start_OutOfFrame	p.S136R	NM_018984.3	NP_061857.3	1	2	3	2.003078	Q8WYL5	SSH1_HUMAN		6	501	-			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	0	1	hg19	c.408C>A	CCDS9121.1	0	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320243	0.60634	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.77620	1.29;1.29;1.29;-1.11	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.156947	0.64402	D	0.000001	D	0.82273	0.5001	L	0.37507	1.11	0.80722	D	1	B;D;P	0.65815	0.34;0.995;0.76	B;P;B	0.62014	0.07;0.897;0.343	D	0.83762	0.0215	10	0.62326	D	0.03	-34.4919	18.0915	0.89477	0.0:0.0:1.0:0.0	.	147;136;136	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	R	136;136;147;120	ENSP00000315713:S136R;ENSP00000448824:S136R;ENSP00000326107:S147R;ENSP00000446652:S120R	ENSP00000326107:S147R	S	-	3	2	2	SSH1	107729227	107729227	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.069000	0.50026	2.577000	0.86979	0.655000	0.94253	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	0	0	0		20	7	2	1		1	1	48		48	48	1	2.060000	-6.431800	1	0.170000	NM_018984			6	6		315	311	0		0	0		1	0	48	0		3.552391e-03	3.519666e-03	0	0	0	72	0	6	315
DAO	1610	broad.mit.edu	37	12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A	rs546485721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000228476.3	+	2	352	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000551281.1_Missense_Mutation_p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	50					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)			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)	CGTGGCTGCCGGCCTCTGGCA	0.617																																						ENST00000228476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(148-150)Ggc>Agc		D-amino-acid oxidase	Flavin adenine dinucleotide(DB03147)						70.0	72.0	71.0					12																	109278930		2203	4300	6503	SO:0001583	missense	1610	0	0					g.chr12:109278930G>A	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.148G>A	chr12.hg19:g.109278930G>A	ENSP00000228476:p.Gly50Ser	0					DAO_ENST00000551281.1_Missense_Mutation_p.G50S	p.G50S	NM_001917.4	NP_001908.3	1	2	3	2.003078	P14920	OXDA_HUMAN		2	352	+			B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	1	1	hg19	c.148G>A	CCDS9122.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959338	0.74016	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	D;D;D	0.86956	-2.19;-2.19;-2.19	5.58	5.58	0.84498	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.046434	0.85682	D	0.000000	D	0.94621	0.8266	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94898	0.8054	10	0.59425	D	0.04	-7.3957	18.1463	0.89656	0.0:0.0:1.0:0.0	.	50;50	P14920;Q7Z312	OXDA_HUMAN;.	S	50	ENSP00000446853:G50S;ENSP00000228476:G50S;ENSP00000447104:G50S	ENSP00000228476:G50S	G	+	1	0	0	DAO	107803059	107803059	1.000000	0.71417	0.959000	0.39883	0.028000	0.11728	9.777000	0.99008	2.628000	0.89032	0.591000	0.81541	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1	1	0	1		2	2	2	0		0	0	118		118	113	1	2.060000	-3.017773	1	0.170000				93	86		577	565	1		1	0		0	0	118	0		1	0	0	0	0	1	0	93	577
DAO	1610	broad.mit.edu	37	12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A	rs372560295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000228476.3	+	10	1073	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	290					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			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)	CCCCAGATTCGGCTAGAAAGA	0.483																																						ENST00000228476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997643	0.990000	1.000000																										0				26						c.(868-870)cGg>cAg		D-amino-acid oxidase	Flavin adenine dinucleotide(DB03147)	G	GLN/ARG	0,4406		0,0,2203	46.0	39.0	41.0		869	5.1	0.9	12		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAO	NM_001917.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	290/348	109293208	1,13005	2203	4300	6503	SO:0001583	missense	1610	3	121412	35				g.chr12:109293208G>A	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.869G>A	chr12.hg19:g.109293208G>A	ENSP00000228476:p.Arg290Gln	0					DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	p.R290Q	NM_001917.4	NP_001908.3	1	2	3	2.003078	P14920	OXDA_HUMAN		10	1073	+			B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	1	1	hg19	c.869G>A	CCDS9122.1	1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.300068	0.81136	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.81415	-1.49;-1.49	5.14	5.14	0.70334	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95271	0.8377	10	0.87932	D	0	-16.9776	16.0921	0.81098	0.0:0.0:1.0:0.0	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	Q	224;290	ENSP00000446853:R224Q;ENSP00000228476:R290Q	ENSP00000228476:R290Q	R	+	2	0	0	DAO	107817337	107817337	1.000000	0.71417	0.944000	0.38274	0.276000	0.26787	7.514000	0.81750	2.409000	0.81822	0.542000	0.68232	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				17	17		107	105	1		1	0		0	0	25	0		9.999738e-01	0	0	0	0	1	0	17	107
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547																																						ENST00000299134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(628-630)tcG>tcA		SV2 related protein homolog (rat)							281.0	284.0	283.0					12																	109332674		2077	4207	6284	SO:0001819	synonymous_variant	55530	1	121036	34				g.chr12:109332674C>T	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.630G>A	chr12.hg19:g.109332674C>T		0						p.S210S	NM_018711.2	NP_061181.1	1	2	3	2.003078	Q8N4V2	SVOP_HUMAN		7	629	-			Q9NPW5	Silent	SNP	ENST00000299134.5	0	0	hg19	c.630G>A		1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-20.000000	1	0.170000	NM_018711			160	157		694	681	1		1	0		0	0	171	0		1	3.547095e-02	0	0	0	2	0	160	694
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000257548.5	+	13	1563	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490	USP.				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)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597																																						ENST00000257548.5	1.000000	0.620000	1	7.700000e-01	0.940000	0.904215	0.940000	1.000000																										0				28						c.(1468-1470)ctG>ctA		ubiquitin specific peptidase 30							92.0	74.0	80.0					12																	109523652		2203	4300	6503	SO:0001819	synonymous_variant	84749	0	0					g.chr12:109523652G>A	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.1470G>A	chr12.hg19:g.109523652G>A		0					USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	1	2	3	2.003078	Q70CQ3	UBP30_HUMAN		13	1563	+			Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	1	1	hg19	c.1470G>A	CCDS9123.2	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_032663			25	25		294	290	0		1	1		0	0	60	0		9.999998e-01	9.105616e-01	0	5	0	46	0	25	294
ALKBH2	121642	broad.mit.edu	37	12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T	rs573894170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000429722.2	-	2	496	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	45					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.0		0.0	False		,,,				2504	0.001					ENST00000429722.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(133-135)Gcc>Acc	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						137.0	149.0	145.0					12																	109530459		2203	4300	6503	SO:0001583	missense	121642	1	121408	32				g.chr12:109530459C>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.133G>A	chr12.hg19:g.109530459C>T	ENSP00000398181:p.Ala45Thr	0					ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	p.A45T	NM_001145374.1	NP_001138846.1	1	2	3	2.003078	Q6NS38	ALKB2_HUMAN		2	496	-			A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	1	1	hg19	c.133G>A	CCDS31897.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433944	0.43224	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22134	1.97;1.97	5.76	-11.5	0.00074	5.76	-11.5	0.00074	.	3.538250	0.00508	N	0.000171	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.001	B;B	0.10450	0.005;0.0	T	0.15150	-1.0447	10	0.09338	T	0.73	-0.7051	13.3487	0.60589	0.0:0.5201:0.3529:0.127	.	45;45	A4PET2;Q6NS38	.;ALKB2_HUMAN	T	45	ENSP00000398181:A45T;ENSP00000343021:A45T	ENSP00000343021:A45T	A	-	1	0	0	ALKBH2	108014842	108014842	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.292000	0.02772	-3.112000	0.00241	-0.471000	0.05019	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	1	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-20.000000	1	0.170000	NM_001001655			157	155		716	700	1		1	1		0	0	148	0		1	1	0	49	0	82	0	157	716
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377854.5_Missense_Mutation_p.G119R|ACACB_ENST00000377848.3_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					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)			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)	TCAAGCCAACGGGACTGGGAC	0.622																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(355-357)Ggg>Agg		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						118.0	122.0	121.0					12																	109577565		2203	4300	6503	SO:0001583	missense	32	1	121412	33				g.chr12:109577565G>A	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.355G>A	chr12.hg19:g.109577565G>A	ENSP00000341044:p.Gly119Arg	0					ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R	p.G119R			1	2	3	2.003078	O00763	ACACB_HUMAN		2	474	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.355G>A	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560373	0.13498	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.51071	2.2;0.72;2.2;2.2	4.33	-1.05	0.10036	4.33	-1.05	0.10036	.	1.686470	0.02762	N	0.118751	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06303	-1.0834	10	0.23891	T	0.37	.	3.5659	0.07900	0.4306:0.0:0.3952:0.1742	.	119	O00763	ACACB_HUMAN	R	119;94;119;119	ENSP00000341044:G119R;ENSP00000443494:G94R;ENSP00000367079:G119R;ENSP00000367085:G119R	ENSP00000341044:G119R	G	+	1	0	0	ACACB	108061948	108061948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.317000	0.08677	-0.136000	0.14681	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	240		240	238	1	2.060000	-2.509958	1	0.170000	NM_001093			200	196		913	892	1		1	0		0	0	240	0		1	2.231320e-01	0	1	0	4	0	200	913
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377848.3_Missense_Mutation_p.E249K|ACACB_ENST00000377854.5_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					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)			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)	TTCTCCCGCTGAGTTTGTCAC	0.612																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(745-747)Gag>Aag		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						82.0	75.0	77.0					12																	109604757		2203	4300	6503	SO:0001583	missense	32	0	0					g.chr12:109604757G>A	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.745G>A	chr12.hg19:g.109604757G>A	ENSP00000341044:p.Glu249Lys	0					ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K	p.E249K			1	2	3	2.003078	O00763	ACACB_HUMAN		3	864	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.745G>A	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.794786	0.96952	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.86953	2.85	0.80722	D	1	P	0.38922	0.651	P	0.45506	0.483	T	0.39742	-0.9599	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	249	O00763	ACACB_HUMAN	K	249	ENSP00000341044:E249K;ENSP00000367079:E249K;ENSP00000367085:E249K	ENSP00000341044:E249K	E	+	1	0	0	ACACB	108089140	108089140	1.000000	0.71417	0.978000	0.43139	0.797000	0.45037	7.933000	0.87642	2.596000	0.87737	0.591000	0.81541	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	90		90	86	1	2.060000	-20.000000	1	0.170000	NM_001093			63	61		324	315	1		1	0		0	0	90	0		1	6.073203e-01	0	1	0	11	0	63	324
ACACB	32	broad.mit.edu	37	12	109605787	109605787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377848.3_Silent_p.R291R|ACACB_ENST00000377854.5_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	291	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			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)	GCAACGAGCGGGCCATCCGGT	0.602																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(871-873)cgG>cgA		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						158.0	100.0	120.0					12																	109605787		2203	4300	6503	SO:0001819	synonymous_variant	32	0	0					g.chr12:109605787G>A	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.873G>A	chr12.hg19:g.109605787G>A		0					ACACB_ENST00000377854.5_Silent_p.R291R|ACACB_ENST00000377848.3_Silent_p.R291R	p.R291R			1	2	3	2.003078	O00763	ACACB_HUMAN		4	992	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	1	1	hg19	c.873G>A	CCDS31898.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_001093			54	52		260	252	1		1	0		0	0	65	0		1	9.087526e-01	0	1	0	21	0	54	260
TAS2R9	50835	broad.mit.edu	37	12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	143					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358																																						ENST00000240691.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(427-429)aTt>aGt		taste receptor, type 2, member 9							52.0	55.0	54.0					12																	10962247		2203	4298	6501	SO:0001583	missense	50835	0	0					g.chr12:10962247A>C	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.428T>G	chr12.hg19:g.10962247A>C	ENSP00000240691:p.Ile143Ser	0					TAS2R8_ENST00000240615.2_5'Flank	p.I143S	NM_023917.2	NP_076406.1	1	2	3	2.002308	Q9NYW1	TA2R9_HUMAN		1	520	-			Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	1	1	hg19	c.428T>G	CCDS8633.1	1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469142	0.26423	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.82	1.49	0.22878	3.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.959327	0.08425	U	0.947811	T	0.29850	0.0746	L	0.52011	1.625	0.09310	N	1	P	0.45078	0.85	B	0.39027	0.288	T	0.24404	-1.0161	10	0.62326	D	0.03	.	5.1001	0.14754	0.6463:0.0:0.3537:0.0	.	143	Q9NYW1	TA2R9_HUMAN	S	143	ENSP00000240691:I143S	ENSP00000240691:I143S	I	-	2	0	0	TAS2R9	10853514	10853514	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.646000	0.01998	0.639000	0.30564	0.528000	0.53228	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				47	46		249	243	1		1			0	0	52	0		1	0	0	0	0	0	0	47	249
TAS2R9	50835	broad.mit.edu	37	12	10962425	10962425	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962425T>C	ENST00000240691.2	-	1	342	c.250A>G	c.(250-252)Att>Gtt	p.I84V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	84					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATTCACAATGCTTACTAGC	0.408																																						ENST00000240691.2	1.000000	0.110000	3.800000e-01	1.700000e-01	0.250000	0.308950	0.250000	0.230000																										0				17						c.(250-252)Att>Gtt		taste receptor, type 2, member 9							106.0	102.0	103.0					12																	10962425		2203	4300	6503	SO:0001583	missense	50835	1	121404	33				g.chr12:10962425T>C	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.250A>G	chr12.hg19:g.10962425T>C	ENSP00000240691:p.Ile84Val	0					TAS2R8_ENST00000240615.2_5'Flank	p.I84V	NM_023917.2	NP_076406.1	1	2	3	2.002308	Q9NYW1	TA2R9_HUMAN		1	342	-			Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	0	1	hg19	c.250A>G	CCDS8633.1	0	.	.	.	.	.	.	.	.	.	.	T	5.649	0.304332	0.10678	.	.	ENSG00000121381	ENST00000240691	T	0.00808	5.67	4.37	-1.14	0.09741	4.37	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.203864	0.28241	U	0.016077	T	0.00815	0.0027	L	0.37507	1.11	0.09310	N	1	P	0.35077	0.483	B	0.36464	0.225	T	0.50423	-0.8830	10	0.24483	T	0.36	.	4.9559	0.14038	0.0:0.1759:0.2612:0.5629	.	84	Q9NYW1	TA2R9_HUMAN	V	84	ENSP00000240691:I84V	ENSP00000240691:I84V	I	-	1	0	0	TAS2R9	10853692	10853692	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.895000	0.04118	-0.268000	0.09312	-0.361000	0.07541	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-8.167011	1	0.170000				8	8		393	389	0		1			0	0	105	0		9.890921e-01	0	0	0	0	0	0	8	393
ACACB	32	broad.mit.edu	37	12	109612034	109612034	+	Splice_Site	SNP	C	C	T	rs148317452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109612034C>T	ENST00000338432.7	+	7	1334	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	ACACB_ENST00000377848.3_Splice_Site_p.S405S|ACACB_ENST00000377854.5_Splice_Site_p.S405S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	405	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			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)	GGAGTGGAAGCGGTAAGGGAC	0.577																																						ENST00000338432.7	1.000000	0.980000	1	9.900000e-01	0.990000	0.997143	0.990000	1.000000																										0				95						c.(1213-1215)agC>agT		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)	C		0,4406		0,0,2203	34.0	28.0	30.0		1215	-6.6	0.8	12	dbSNP_134	30	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous-near-splice	ACACB	NM_001093.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		405/2459	109612034	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	32	6	121384	33				g.chr12:109612034C>T	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.1216+1C>T	chr12.hg19:g.109612034C>T		0					ACACB_ENST00000377854.5_Splice_Site_p.S405S|ACACB_ENST00000377848.3_Splice_Site_p.S405S	p.S405S			1	2	3	2.003078	O00763	ACACB_HUMAN		7	1334	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	0	0	hg19	c.1215C>T	CCDS31898.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999760	1	0.170000	NM_001093	Silent		14	14		83	83	1		1	1		0	0	15	0		9.998318e-01	6.672856e-01	0	2	0	13	0	14	83
ACACB	32	broad.mit.edu	37	12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A	rs542111056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377848.3_Missense_Mutation_p.D770N|ACACB_ENST00000377854.5_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	770					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)			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)	GGAGAAACCGGATATCATGCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20933	0.0		0.001	False		,,,				2504	0.0					ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(2308-2310)Gat>Aat		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						114.0	100.0	104.0					12																	109629664		2203	4300	6503	SO:0001583	missense	32	1	121412	33				g.chr12:109629664G>A	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.2308G>A	chr12.hg19:g.109629664G>A	ENSP00000341044:p.Asp770Asn	0					ACACB_ENST00000377854.5_Missense_Mutation_p.D770N|ACACB_ENST00000377848.3_Missense_Mutation_p.D770N	p.D770N			1	2	3	2.003078	O00763	ACACB_HUMAN		15	2427	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.2308G>A	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267133	0.80469	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96232	-3.95;-3.95;-3.91	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.099394	0.64402	D	0.000003	D	0.95778	0.8626	M	0.71920	2.185	0.80722	D	1	B	0.22851	0.076	B	0.26614	0.071	D	0.93811	0.7110	10	0.56958	D	0.05	.	18.244	0.89978	0.0:0.0:1.0:0.0	.	770	O00763	ACACB_HUMAN	N	770	ENSP00000341044:D770N;ENSP00000367079:D770N;ENSP00000367085:D770N	ENSP00000341044:D770N	D	+	1	0	0	ACACB	108114047	108114047	1.000000	0.71417	0.793000	0.32043	0.955000	0.61496	6.823000	0.75282	2.549000	0.85964	0.650000	0.86243	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001093			50	50		229	228	1		1	1		0	0	49	0		1	9.568113e-01	0	4	0	22	0	50	229
ACACB	32	broad.mit.edu	37	12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377848.3_Missense_Mutation_p.T885M|ACACB_ENST00000377854.5_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					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)			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)	GGCAATAAGACGTGTGTGTTT	0.547																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(2653-2655)aCg>aTg		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						145.0	130.0	136.0					12																	109637233		2203	4300	6503	SO:0001583	missense	32	1	121378	33				g.chr12:109637233C>T	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.2654C>T	chr12.hg19:g.109637233C>T	ENSP00000341044:p.Thr885Met	0					ACACB_ENST00000377854.5_Missense_Mutation_p.T885M|ACACB_ENST00000377848.3_Missense_Mutation_p.T885M	p.T885M			1	2	3	2.003078	O00763	ACACB_HUMAN		18	2773	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.2654C>T	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311544	0.81358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.96491	-4.03;-4.03;-3.97	5.42	4.53	0.55603	5.42	4.53	0.55603	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.99198	1.0872	10	0.87932	D	0	.	14.2219	0.65833	0.0:0.9269:0.0:0.0731	.	885	O00763	ACACB_HUMAN	M	885;885;885;116	ENSP00000341044:T885M;ENSP00000367079:T885M;ENSP00000367085:T885M	ENSP00000341044:T885M	T	+	2	0	0	ACACB	108121616	108121616	1.000000	0.71417	0.888000	0.34837	0.877000	0.50540	5.958000	0.70330	1.418000	0.47098	0.585000	0.79938	ACG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_001093			81	81		318	311	1		1	1		0	0	83	0		1	9.770719e-01	0	5	0	21	0	81	318
ACACB	32	broad.mit.edu	37	12	109637282	109637282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377848.3_Silent_p.S901S|ACACB_ENST00000377854.5_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				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)			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)	GATCCCCCTCGGCTGGGAAGC	0.582																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(2701-2703)tcG>tcA		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						115.0	111.0	112.0					12																	109637282		2203	4300	6503	SO:0001819	synonymous_variant	32	1	121410	36				g.chr12:109637282G>A	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.2703G>A	chr12.hg19:g.109637282G>A		0					ACACB_ENST00000377854.5_Silent_p.S901S|ACACB_ENST00000377848.3_Silent_p.S901S	p.S901S			1	2	3	2.003078	O00763	ACACB_HUMAN		18	2822	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	1	1	hg19	c.2703G>A	CCDS31898.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	0	0	0		2	2	2	0		0	0	90		90	86	1	2.060000	-2.887328	1	0.170000	NM_001093			82	81		422	412	1		1	1		0	0	90	0		1	7.274080e-01	0	3	0	12	0	82	422
ACACB	32	broad.mit.edu	37	12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I|ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1006					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)			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)	CCTCACCAACGTCATGAGTGG	0.537																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(3016-3018)Gtc>Atc		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)						142.0	133.0	136.0					12																	109644617		2203	4300	6503	SO:0001583	missense	32	2	121412	42				g.chr12:109644617G>A	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.3016G>A	chr12.hg19:g.109644617G>A	ENSP00000341044:p.Val1006Ile	0					ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I|ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I	p.V1006I			1	2	3	2.003078	O00763	ACACB_HUMAN		20	3135	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.3016G>A	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	G	1.092	-0.663712	0.03428	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.104	0.14531	5.29	0.104	0.14531	Acetyl-CoA carboxylase, central domain (1);	0.120003	0.56097	N	0.000027	T	0.11922	0.0290	N	0.02775	-0.495	0.80722	D	1	B	0.24963	0.115	B	0.24006	0.05	T	0.36407	-0.9749	10	0.02654	T	1	.	10.597	0.45343	0.4098:0.0:0.5902:0.0	.	1006	O00763	ACACB_HUMAN	I	1006;1006;1006;237	ENSP00000341044:V1006I;ENSP00000367079:V1006I;ENSP00000367085:V1006I	ENSP00000341044:V1006I	V	+	1	0	0	ACACB	108129000	108129000	0.102000	0.21896	0.393000	0.26258	0.632000	0.37999	0.436000	0.21526	-0.272000	0.09259	-0.136000	0.14681	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_001093			126	124		526	512	1		1	0		0	0	101	0		1	8.871803e-01	0	1	0	17	0	126	526
ACACB	32	broad.mit.edu	37	12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A	rs200016239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1490					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)			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)	CGCATTTACCGTCACTTGGAA	0.552																																						ENST00000338432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(4468-4470)cGt>cAt		acetyl-CoA carboxylase beta	Adenine(DB00173)|Biotin(DB00121)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	127.0	135.0		4469	4.8	1.0	12		135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACACB	NM_001093.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1490/2459	109674992	2,13004	2203	4300	6503	SO:0001583	missense	32	8	121412	45				g.chr12:109674992G>A	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.4469G>A	chr12.hg19:g.109674992G>A	ENSP00000341044:p.Arg1490His	0					ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H	p.R1490H			1	2	3	2.003078	O00763	ACACB_HUMAN		34	4588	+			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	1	1	hg19	c.4469G>A	CCDS31898.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.295524	0.95574	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.75	4.75	0.60458	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95195	0.8311	10	0.87932	D	0	.	18.6363	0.91379	0.0:0.0:1.0:0.0	.	1490	O00763	ACACB_HUMAN	H	1490;1490;1420;721;156	ENSP00000341044:R1490H;ENSP00000367079:R1490H;ENSP00000367085:R1420H;ENSP00000444075:R156H	ENSP00000341044:R1490H	R	+	2	0	0	ACACB	108159375	108159375	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.798000	0.99111	2.586000	0.87340	0.555000	0.69702	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-20.000000	1	0.170000	NM_001093			123	123		509	499	1		1	1		0	0	148	0		1	9.068093e-01	0	2	0	17	0	123	509
FOXN4	121643	broad.mit.edu	37	12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	331					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)			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677																																						ENST00000299162.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998788	0.990000	1.000000																										0				16						c.(991-993)Gcc>Acc		forkhead box N4							19.0	15.0	16.0					12																	109719515		2182	4275	6457	SO:0001583	missense	121643	0	0					g.chr12:109719515C>T	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.991G>A	chr12.hg19:g.109719515C>T	ENSP00000299162:p.Ala331Thr	1					FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	p.A331T	NM_213596.2	NP_998761.2	0	4	4	2.194263	Q96NZ1	FOXN4_HUMAN		9	1095	-			Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	1	1	hg19	c.991G>A	CCDS9126.2	1	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832846	0.16820	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95272	-3.66;-3.24	5.29	1.2	0.21068	5.29	1.2	0.21068	.	1.572910	0.03385	N	0.200953	D	0.89812	0.6823	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.012	B;B	0.10450	0.005;0.005	T	0.73427	-0.3986	10	0.15066	T	0.55	-15.7102	2.2101	0.03945	0.1578:0.5154:0.1543:0.1725	.	331;331	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	151;331	ENSP00000347354:A151T;ENSP00000299162:A331T	ENSP00000299162:A331T	A	-	1	0	0	FOXN4	108203898	108203898	0.011000	0.17503	0.022000	0.16811	0.301000	0.27625	0.172000	0.16704	0.009000	0.14813	-0.234000	0.12200	GCC	2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	XM_062735			17	17		115	112	1		1			0	0	25	0		9.999713e-01	0	0	0	0	0	0	17	115
TAS2R10	50839	broad.mit.edu	37	12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					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)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343																																						ENST00000240619.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(319-321)Ttc>Gtc		taste receptor, type 2, member 10							60.0	65.0	63.0					12																	10978550		2203	4297	6500	SO:0001583	missense	50839	0	0					g.chr12:10978550A>C	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.319T>G	chr12.hg19:g.10978550A>C	ENSP00000240619:p.Phe107Val	0						p.F107V	NM_023921.1	NP_076410.1	1	2	3	2.002308	Q9NYW0	T2R10_HUMAN		1	407	-			Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	1	1	hg19	c.319T>G	CCDS8634.1	1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422233	0.62622	.	.	ENSG00000121318	ENST00000240619	T	0.39056	1.1	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.232278	0.33235	N	0.005138	T	0.65637	0.2710	M	0.90483	3.12	0.26369	N	0.976916	D	0.64830	0.994	D	0.69479	0.964	T	0.62369	-0.6869	10	0.59425	D	0.04	.	7.9563	0.30045	0.8171:0.0:0.0:0.1829	.	107	Q9NYW0	T2R10_HUMAN	V	107	ENSP00000240619:F107V	ENSP00000240619:F107V	F	-	1	0	0	TAS2R10	10869817	10869817	0.817000	0.29147	1.000000	0.80357	0.959000	0.62525	2.207000	0.42788	1.868000	0.54150	0.482000	0.46254	TTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				49	46		245	243	1		1			0	0	74	0		1	0	0	0	0	0	0	49	245
FOXN4	121643	broad.mit.edu	37	12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T	rs373055287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					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.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612																																						ENST00000299162.5	1.000000	0.270000	1	4.200000e-01	0.650000	0.688484	0.650000	1.000000																										2	Substitution - Missense(2)	p.D276N(1)|p.D96N(1)	large_intestine(2)	16						c.(826-828)Gac>Aac		forkhead box N4		C	ASN/ASP	0,4406		0,0,2203	82.0	65.0	71.0		826	3.8	1.0	12		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN4	NM_213596.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	276/518	109723184	1,13005	2203	4300	6503	SO:0001583	missense	121643	0	0					g.chr12:109723184C>T	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.826G>A	chr12.hg19:g.109723184C>T	ENSP00000299162:p.Asp276Asn	1					FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	p.D276N	NM_213596.2	NP_998761.2	0	4	4	2.194263	Q96NZ1	FOXN4_HUMAN		8	930	-			Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	1	1	hg19	c.826G>A	CCDS9126.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	0|0	FOXN4|FOXN4	108207567|108207567	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA	2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-4.180146	1	0.170000	XM_062735			7	7		161	160	0		1			0	0	32	0		9.808980e-01	0	0	0	0	0	0	7	161
MYO1H	283446	broad.mit.edu	37	12	109843753	109843753	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109843753C>A	ENST00000431443.2	+	7	828	c.828C>A	c.(826-828)gtC>gtA	p.V276V	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Silent_p.V276V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	276	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						TTGCCAGTGTCTTACACCTGG	0.483																																						ENST00000431443.2	1.000000	0.180000	1	3.000000e-01	0.490000	0.576778	0.490000	0.400000																										0				47						c.(826-828)gtC>gtA		myosin IH							94.0	86.0	88.0					12																	109843753		1910	4126	6036	SO:0001819	synonymous_variant	283446	0	0					g.chr12:109843753C>A		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.828C>A	chr12.hg19:g.109843753C>A		1					MYO1H_ENST00000310903.5_Silent_p.V276V|MYO1H_ENST00000542883.1_3'UTR	p.V276V	NM_001101421.3	NP_001094891.3	0	4	4	2.194263	Q8N1T3	MYO1H_HUMAN		7	828	+			F5H3C6	Silent	SNP	ENST00000431443.2	0	1	hg19	c.828C>A		0																																																																																								2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-8.006873	1	0.170000	NM_173597			6	6		191	185	0		1			0	0	50	0		9.622233e-01	0	0	0	0	0	0	6	191
UBE3B	89910	broad.mit.edu	37	12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	711	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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502																																						ENST00000342494.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2131-2133)Cgt>Tgt		ubiquitin protein ligase E3B							128.0	115.0	119.0					12																	109959007		2203	4300	6503	SO:0001583	missense	89910	0	0					g.chr12:109959007C>T	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.2131C>T	chr12.hg19:g.109959007C>T	ENSP00000340596:p.Arg711Cys	1					UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	p.R711C	NM_130466.3	NP_569733.2	0	4	4	2.194263	Q7Z3V4	UBE3B_HUMAN		20	2726	+			A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	1	1	hg19	c.2131C>T	CCDS9129.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980821	0.74474	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.46819	0.86;0.86;0.86	5.93	5.93	0.95920	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.87932	D	0	-7.1982	14.774	0.69703	0.1532:0.8468:0.0:0.0	.	711	Q7Z3V4	UBE3B_HUMAN	C	711;711;711;138;6	ENSP00000391529:R711C;ENSP00000443131:R711C;ENSP00000340596:R711C	ENSP00000340596:R711C	R	+	1	0	0	UBE3B	108443390	108443390	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	4.473000	0.60196	2.810000	0.96702	0.655000	0.94253	CGT	2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.808301	1	0.170000	NM_183415			146	140		494	483	1		1	1		0	0	113	0		1	9.999939e-01	0	28	0	32	0	146	494
UBE3B	89910	broad.mit.edu	37	12	109967770	109967770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	901	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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448																																						ENST00000342494.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2701-2703)agC>agT		ubiquitin protein ligase E3B							181.0	157.0	165.0					12																	109967770		2203	4300	6503	SO:0001819	synonymous_variant	89910	3	121412	39				g.chr12:109967770C>T	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.2703C>T	chr12.hg19:g.109967770C>T		1					UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	p.S901S	NM_130466.3	NP_569733.2	0	4	4	2.194263	Q7Z3V4	UBE3B_HUMAN		25	3298	+			A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	1	1	hg19	c.2703C>T	CCDS9129.1	1																																																																																								2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_183415			163	158		494	480	1		1	1		0	0	129	0		1	1	0	31	0	45	0	163	494
MVK	4598	broad.mit.edu	37	12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539575.1_Missense_Mutation_p.S171F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	223					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512																																						ENST00000228510.3	1.000000	0.380000	1	5.200000e-01	0.720000	0.746944	0.720000	1.000000																										0				8						c.(667-669)tCc>tTc		mevalonate kinase							77.0	74.0	75.0					12																	110024595		2203	4300	6503	SO:0001583	missense	4598	0	0					g.chr12:110024595C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.668C>T	chr12.hg19:g.110024595C>T	ENSP00000228510:p.Ser223Phe	1					MVK_ENST00000539696.1_Intron|MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000392727.3_Missense_Mutation_p.S171F	p.S223F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	0	4	4	2.194263	Q03426	KIME_HUMAN		7	744	+				Missense_Mutation	SNP	ENST00000228510.3	1	1	hg19	c.668C>T	CCDS9132.1	0	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685787	0.47991	.	.	ENSG00000110921	ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D	0.97791	-4.54;-4.37;-4.37;-4.38	4.83	3.01	0.34805	4.83	3.01	0.34805	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.699813	0.14788	N	0.298383	D	0.95560	0.8557	L	0.59436	1.845	0.09310	N	1	B;D	0.55172	0.007;0.97	B;B	0.42738	0.009;0.396	D	0.90079	0.4169	10	0.51188	T	0.08	1.0E-4	7.2939	0.26383	0.0:0.8002:0.0:0.1998	.	171;223	F5H8H2;Q03426	.;KIME_HUMAN	F	223;171;171;29	ENSP00000228510:S223F;ENSP00000376487:S171F;ENSP00000443551:S171F;ENSP00000443182:S29F	ENSP00000228510:S223F	S	+	2	0	0	MVK	108508978	108508978	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	0.750000	0.26334	0.629000	0.30376	0.655000	0.94253	TCC	2.468240e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-4.833837	1	0.170000	NM_000431			13	13		251	246	0		1	1		0	0	47	0		9.995123e-01	8.679509e-01	0	5	0	67	0	13	251
TRPV4	59341	broad.mit.edu	37	12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					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)			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						CTCCCCAGAGCGGAAGGCCTT	0.662																																						ENST00000418703.2	1.000000	0.240000	1	3.400000e-01	0.490000	0.583284	0.490000	0.430000																										0				35						c.(2269-2271)cGc>cAc		transient receptor potential cation channel, subfamily V, member 4		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	65.0	73.0		2129,2168,1949,2270,2090	4.8	1.0	12	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	710/825,723/838,650/765,757/872,697/812	110224581	1,13005	2203	4300	6503	SO:0001583	missense	59341	2	121406	36				g.chr12:110224581C>T	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.2270G>A	chr12.hg19:g.110224581C>T	ENSP00000406191:p.Arg757His	1					TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H	p.R757H	NM_001177431.1	NP_001170902.1	2	2	4	2.189533	Q9HBA0	TRPV4_HUMAN		13	2364	-			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	1	1	hg19	c.2270G>A	CCDS9134.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.090065	0.94149	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.997	D;D;D;P;P	0.91635	0.999;0.998;0.999;0.764;0.829	D	0.94852	0.8014	10	0.62326	D	0.03	-31.3539	16.8762	0.86052	0.0:1.0:0.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	757;757;710;697;650;697;710;723	ENSP00000406191:R757H;ENSP00000261740:R757H;ENSP00000376480:R710H;ENSP00000319003:R697H;ENSP00000443611:R650H;ENSP00000442738:R697H;ENSP00000442167:R710H;ENSP00000444336:R723H	ENSP00000261740:R757H	R	-	2	0	0	TRPV4	108708964	108708964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.170000	0.77587	2.645000	0.89757	0.655000	0.94253	CGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.734392	1	0.170000	NM_021625			11	11		323	322	0		1	0		0	0	54	0		9.983761e-01	2.901814e-01	0	1	0	29	0	11	323
TRPV4	59341	broad.mit.edu	37	12	110246189	110246189	+	Silent	SNP	G	G	A	rs368606075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	157					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)			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						CCCGGGACACGATGTCAAAGA	0.612																																						ENST00000418703.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(469-471)atC>atT		transient receptor potential cation channel, subfamily V, member 4		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	65.0	58.0	60.0		471,369,471,471,471	0.6	1.0	12		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	157/825,123/838,157/765,157/872,157/812	110246189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59341	0	0					g.chr12:110246189G>A	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.471C>T	chr12.hg19:g.110246189G>A		1					TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I	p.I157I	NM_001177431.1	NP_001170902.1	2	2	4	2.189533	Q9HBA0	TRPV4_HUMAN		2	565	-			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	1	1	hg19	c.471C>T	CCDS9134.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.788378	1	0.170000	NM_021625			73	73		266	262	1		1	1		0	0	44	0		1	7.653323e-01	0	4	0	8	0	73	266
GIT2	9815	broad.mit.edu	37	12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000355312.3	-	15	1467	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	490					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)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493																																						ENST00000355312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1468-1470)Tct>Cct		G protein-coupled receptor kinase interacting ArfGAP 2							151.0	138.0	142.0					12																	110385234		2203	4300	6503	SO:0001583	missense	9815	0	0					g.chr12:110385234A>G	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.1468T>C	chr12.hg19:g.110385234A>G	ENSP00000347464:p.Ser490Pro	1					GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P	p.S490P	NM_057169.3	NP_476510.1	2	2	4	2.189533	Q14161	GIT2_HUMAN		15	1467	-			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	1	1	hg19	c.1468T>C	CCDS9138.1	1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859134	0.32884	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73469	-0.68;-0.67;-0.75;-0.75;-0.71;-0.68;-0.7	5.97	2.31	0.28768	5.97	2.31	0.28768	.	0.321561	0.39407	N	0.001373	T	0.55081	0.1898	N	0.21097	0.63	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.0;0.0;0.0	T	0.34551	-0.9824	10	0.29301	T	0.29	.	6.4932	0.22127	0.7301:0.1324:0.1375:0.0	.	442;442;490;428;490	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	P	490;440;442;410;442;490;439;428	ENSP00000347464:S490P;ENSP00000353312:S440P;ENSP00000346585:S442P;ENSP00000340938:S410P;ENSP00000391813:S442P;ENSP00000354282:S490P;ENSP00000448832:S439P	ENSP00000340938:S410P	S	-	1	0	0	GIT2	108869617	108869617	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.569000	0.23638	0.156000	0.19299	-0.472000	0.04984	TCT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_057169			91	90		432	424	1		1	1		0	0	73	0		1	9.999928e-01	0	14	0	68	0	91	432
ANKRD13A	88455	broad.mit.edu	37	12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	81						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433																																						ENST00000261739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(241-243)gCt>gTt		ankyrin repeat domain 13A							105.0	88.0	94.0					12																	110450942		2203	4300	6503	SO:0001583	missense	88455	0	0					g.chr12:110450942C>T	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.242C>T	chr12.hg19:g.110450942C>T	ENSP00000261739:p.Ala81Val	1					ANKRD13A_ENST00000550404.1_3'UTR	p.A81V	NM_033121.1	NP_149112.1	2	2	4	2.189533	Q8IZ07	AN13A_HUMAN		3	408	+			O60736	Missense_Mutation	SNP	ENST00000261739.4	1	1	hg19	c.242C>T	CCDS9140.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189695	0.78789	.	.	ENSG00000076513	ENST00000261739	D	0.87491	-2.26	5.96	5.96	0.96718	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.84846	2.72	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.999	P;D;D	0.87578	0.698;0.998;0.994	D	0.94044	0.7312	10	0.56958	D	0.05	-4.7707	19.4101	0.94667	0.0:1.0:0.0:0.0	.	81;81;81	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	V	81	ENSP00000261739:A81V	ENSP00000261739:A81V	A	+	2	0	0	ANKRD13A	108935325	108935325	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	GCT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_033121			50	50		221	217	1		1	1		0	0	53	0		1	1	0	28	0	90	0	50	221
ATP2A2	488	broad.mit.edu	37	12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000539276.2	+	8	897	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A|ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	263					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)			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						CTTTCCAAAGTCATCTCCCTT	0.448																																						ENST00000539276.2	1.000000	0.320000	1	3.900000e-01	0.480000	0.582901	0.480000	0.450000																										0				38						c.(787-789)gTc>gCc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							152.0	153.0	153.0					12																	110765515		2203	4300	6503	SO:0001583	missense	488	0	0					g.chr12:110765515T>C		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.788T>C	chr12.hg19:g.110765515T>C	ENSP00000440045:p.Val263Ala	1					ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A	p.V263A			2	2	4	2.189533	P16615	AT2A2_HUMAN		8	897	+			A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	1	1	hg19	c.788T>C	CCDS9144.1	0	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436419	0.62955	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	5.48	0.80851	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.055142	0.64402	D	0.000001	D	0.84999	0.5597	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.19148	0.012;0.014;0.024	T	0.80605	-0.1308	10	0.41790	T	0.15	.	15.9151	0.79508	0.0:0.0:0.0:1.0	.	236;263;263	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	A	263;236;263	ENSP00000311186:V263A;ENSP00000378872:V236A;ENSP00000440045:V263A	ENSP00000311186:V263A	V	+	2	0	0	ATP2A2	109249898	109249898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.213000	0.71641	0.477000	0.44152	GTC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	0	1		2	2	2	0		0	0	205		205	203	1	2.060000	-4.068966	1	0.170000	NM_001681			34	33		951	931	0		1	1		0	0	205	0		1	9.999999e-01	0	40	0	635	0	34	951
ATP2A2	488	broad.mit.edu	37	12	110778497	110778497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000539276.2	+	14	1904	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_ENST00000308664.6_Silent_p.L599L|ATP2A2_ENST00000395494.2_Silent_p.L572L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	599					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)			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						CGTGGGCATGCTGGATCCTCC	0.498																																						ENST00000539276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1795-1797)Ctg>Ttg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							110.0	113.0	112.0					12																	110778497		2203	4300	6503	SO:0001819	synonymous_variant	488	1	121412	33				g.chr12:110778497C>T		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.1795C>T	chr12.hg19:g.110778497C>T		1					ATP2A2_ENST00000395494.2_Silent_p.L572L|ATP2A2_ENST00000308664.6_Silent_p.L599L	p.L599L			2	2	4	2.189533	P16615	AT2A2_HUMAN		14	1904	+			A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	1	1	hg19	c.1795C>T	CCDS9144.1	1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617351	0.14129	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	5.19	0.71726	6.07	5.19	0.71726	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	4	.	.	.	.	15.4358	0.75146	0.0:0.9337:0.0:0.0663	.	.	.	.	V	489	.	.	A	+	2	0	0	ATP2A2	109262880	109262880	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.300000	0.51834	1.583000	0.49898	-0.140000	0.14226	GCT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_001681			168	164		630	622	1		1	1		0	0	137	0		1	1	0	223	0	517	0	168	630
ATP2A2	488	broad.mit.edu	37	12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000539276.2	+	20	3132	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1008					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)			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						TGCTCGTTCTCGGCATGCACC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19766	0.0		0.001	False		,,,				2504	0.0					ENST00000539276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3022-3024)tCg>tTg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2		C	,LEU/SER	0,4406		0,0,2203	91.0	73.0	79.0		,3023	4.3	0.9	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ATP2A2	NM_001681.3,NM_170665.3	,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,1008/1043	110784169	1,13005	2203	4300	6503	SO:0001583	missense	488	8	121412	38				g.chr12:110784169C>T		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.3023C>T	chr12.hg19:g.110784169C>T	ENSP00000440045:p.Ser1008Leu	1					ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L|ATP2A2_ENST00000308664.6_Intron	p.S1008L			2	2	4	2.189533	P16615	AT2A2_HUMAN		20	3132	+			A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	1	1	hg19	c.3023C>T	CCDS9144.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070835	0.36566	0.0	1.16E-4	ENSG00000174437	ENST00000395494;ENST00000539276	D;D	0.94723	-3.5;-3.47	6.17	4.32	0.51571	6.17	4.32	0.51571	.	0.230717	0.46442	D	0.000287	D	0.86121	0.5857	N	0.08118	0	0.36457	D	0.866463	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.80885	-0.1182	9	.	.	.	.	13.1912	0.59711	0.1222:0.7457:0.1321:0.0	.	981;1008	P16615-4;P16615	.;AT2A2_HUMAN	L	981;1008	ENSP00000378872:S981L;ENSP00000440045:S1008L	.	S	+	2	0	0	ATP2A2	109268552	109268552	1.000000	0.71417	0.865000	0.33974	0.995000	0.86356	3.238000	0.51352	0.894000	0.36317	0.655000	0.94253	TCG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001681			76	74		184	181	1		1	1		0	0	32	0		1	1	0	428	0	704	0	76	184
TAS2R14	50840	broad.mit.edu	37	12	11091357	11091357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	150					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)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353																																						ENST00000537503.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(448-450)atC>atT		taste receptor, type 2, member 14							68.0	70.0	69.0					12																	11091357		2203	4300	6503	SO:0001819	synonymous_variant	50840	0	0					g.chr12:11091357G>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.450C>T	chr12.hg19:g.11091357G>A		0					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I150I	NM_023922.1	NP_076411.1	1	2	3	2.002308	Q9NYV8	T2R14_HUMAN		1	505	-			Q645X3	Silent	SNP	ENST00000537503.1	1	1	hg19	c.450C>T	CCDS8637.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_023922			66	66		296	294	1		1	0		0	0	54	0		1	0	0	0	0	1	0	66	296
ATP2A2	488	broad.mit.edu	37	12	110784227	110784227	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000539276.2	+	20	3190	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Silent_p.I1000I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1027					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)			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						CCCTGGTGATCTGGGTCTATA	0.433																																						ENST00000539276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3079-3081)atC>atA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							86.0	75.0	79.0					12																	110784227		2203	4300	6503	SO:0001819	synonymous_variant	488	0	0					g.chr12:110784227C>A		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.3081C>A	chr12.hg19:g.110784227C>A		1					ATP2A2_ENST00000395494.2_Silent_p.I1000I|ATP2A2_ENST00000308664.6_Intron	p.I1027I			2	2	4	2.189533	P16615	AT2A2_HUMAN		20	3190	+			A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	1	1	hg19	c.3081C>A	CCDS9144.1	1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291400	0.10567	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	4.22	0.49857	6.07	4.22	0.49857	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	.	7.1602	0.25659	0.1312:0.6775:0.126:0.0653	.	.	.	.	M	918	.	.	L	+	1	2	2	ATP2A2	109268610	109268610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	0.862000	0.35528	0.655000	0.94253	CTG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_001681			94	92		243	238	1		1	1		0	0	45	0		1	1	0	473	0	814	0	94	243
RAD9B	144715	broad.mit.edu	37	12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409778.3	+	8	877	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	351					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453																																						ENST00000409778.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(853-855)Agt>Ggt		RAD9 homolog B (S. pombe)							78.0	62.0	67.0					12																	110960151		2203	4300	6503	SO:0001583	missense	144715	1	121410	30				g.chr12:110960151A>G		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.853A>G	chr12.hg19:g.110960151A>G	ENSP00000386697:p.Ser285Gly	1					RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G	p.S285G			2	2	4	2.189533	Q6WBX8	RAD9B_HUMAN		8	877	+			Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	1	1	hg19	c.853A>G		1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501926	0.26949	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.12	4.98	-4.0	0.04057	4.98	-4.0	0.04057	.	1.174800	0.06233	N	0.688940	T	0.12944	0.0314	N	0.25380	0.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30937	-0.9961	10	0.30854	T	0.27	0.0269	0.5283	0.00624	0.2512:0.1341:0.2771:0.3376	.	285;354;351	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	G	282;354;354;282;285	ENSP00000387329:S282G;ENSP00000376440:S354G;ENSP00000386434:S354G;ENSP00000386629:S282G;ENSP00000386697:S285G	ENSP00000376440:S354G	S	+	1	0	0	RAD9B	109444534	109444534	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.101000	0.10973	-0.288000	0.09051	0.459000	0.35465	AGT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_152442			39	35		86	84	1		1	0		0	0	26	0		1	1.008858e-01	0	1	0	1	0	39	86
TCTN1	79600	broad.mit.edu	37	12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A	rs199967338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000551590.1	+	9	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	347					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTCTCATTCGTTCTGGGGAC	0.388																																						ENST00000551590.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1039-1041)Gtt>Att		tectonic family member 1							163.0	156.0	158.0					12																	111078889		1957	4144	6101	SO:0001583	missense	79600	0	0					g.chr12:111078889G>A	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1039G>A	chr12.hg19:g.111078889G>A	ENSP00000448735:p.Val347Ile	1					TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I	p.V347I			2	2	4	2.189533	Q2MV58	TECT1_HUMAN		9	1195	+			A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	1	1	hg19	c.1039G>A	CCDS41835.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989356	0.74589	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.87	3.98	0.46160	5.87	3.98	0.46160	Domain of unknown function DUF1619 (1);	0.346611	0.30483	N	0.009533	T	0.72692	0.3492	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.29862	0.259;0.097;0.097;0.226;0.118	B;B;B;B;B	0.29524	0.103;0.02;0.02;0.047;0.034	T	0.56300	-0.8002	10	0.26408	T	0.33	-17.4742	13.4685	0.61270	0.1086:0.3326:0.5588:0.0	.	347;333;347;287;291	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	I	287;347;333;169;169;347;291	ENSP00000448735:V347I;ENSP00000380775:V333I;ENSP00000366882:V169I;ENSP00000380779:V347I	ENSP00000366882:V169I	V	+	1	0	0	TCTN1	109563272	109563272	0.990000	0.36364	0.067000	0.19924	0.311000	0.27955	1.586000	0.36611	0.358000	0.24211	-0.120000	0.15030	GTT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_024549			125	124		590	583	1		1	1		0	0	114	0		1	9.999937e-01	0	8	0	73	0	125	590
CCDC63	160762	broad.mit.edu	37	12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000308208.5	+	6	766	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	175										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						CTGACCACTAATGCCAAGCTC	0.458																																						ENST00000308208.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(523-525)aAt>aCt		coiled-coil domain containing 63							148.0	139.0	142.0					12																	111317744		2203	4300	6503	SO:0001583	missense	160762	0	0					g.chr12:111317744A>C	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.524A>C	chr12.hg19:g.111317744A>C	ENSP00000312399:p.Asn175Thr	1					CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T	p.N175T	NM_152591.1	NP_689804.1	2	2	4	2.189533	Q8NA47	CCD63_HUMAN		6	766	+			B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	1	1	hg19	c.524A>C	CCDS9151.1	1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511850	0.64522	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.74632	-0.82;-0.86;-0.8	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.247417	0.45126	D	0.000382	D	0.84442	0.5473	M	0.77820	2.39	0.36117	D	0.845229	D	0.76494	0.999	D	0.67382	0.951	D	0.89232	0.3578	10	0.72032	D	0.01	.	12.1587	0.54091	1.0:0.0:0.0:0.0	.	175	Q8NA47	CCD63_HUMAN	T	135;175;96	ENSP00000445881:N135T;ENSP00000312399:N175T;ENSP00000450217:N96T	ENSP00000312399:N175T	N	+	2	0	0	CCDC63	109802127	109802127	0.997000	0.39634	0.161000	0.22692	0.870000	0.49936	5.743000	0.68655	1.911000	0.55334	0.379000	0.24179	AAT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_152591			227	220		610	604	1		1			0	0	156	0		1	0	0	0	0	0	0	227	610
MYL2	4633	broad.mit.edu	37	12	111348974	111348974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8	1.000000	0.240000	1	3.100000e-01	0.410000	0.533513	0.410000	0.390000																										0				12						c.(406-408)gaC>gaT		myosin, light chain 2, regulatory, cardiac, slow							125.0	108.0	114.0					12																	111348974		2203	4300	6503	SO:0001819	synonymous_variant	4633	0	0					g.chr12:111348974G>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.408C>T	chr12.hg19:g.111348974G>A		1					MYL2_ENST00000548438.1_Silent_p.D122D	p.D136D	NM_000432.3	NP_000423.2	2	2	4	2.189533	P10916	MLRV_HUMAN		7	455	-			Q16123	Silent	SNP	ENST00000228841.8	1	1	hg19	c.408C>T	CCDS31901.1	0																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	0	0	1		2	2	2	0		0	0	130		130	126	1	2.060000	-16.405460	1	0.170000	NM_000432			20	20		665	653	0		1			0	0	130	0		9.999942e-01	0	0	0	0	0	0	20	665
CUX2	23316	broad.mit.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641					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)			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						CCCGAGAATCCGCACGCCTGA	0.617																																						ENST00000261726.6	1.000000	0.330000	1	5.000000e-01	0.760000	0.757576	0.760000	1.000000																										0				55						c.(1921-1923)Cgc>Tgc		cut-like homeobox 2							59.0	67.0	65.0					12																	111749924		2089	4212	6301	SO:0001583	missense	23316	1	121010	30				g.chr12:111749924C>T	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.1921C>T	chr12.hg19:g.111749924C>T	ENSP00000261726:p.Arg641Cys	1						p.R641C	NM_015267.3	NP_056082.2	2	2	4	2.189533	O14529	CUX2_HUMAN		16	2075	+			A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	1	1	hg19	c.1921C>T	CCDS41837.1	0	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	0	CUX2	110234307	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-10.762440	1	0.170000	NM_015267			8	8		154	151	0		1	0		0	0	38	0		9.891271e-01	0	0	0	0	1	0	8	154
CUX2	23316	broad.mit.edu	37	12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873					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)			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						GGCCTACGTGCCGCGCACCCT	0.716																																						ENST00000261726.6	1.000000	0.770000	1	9.900000e-01	0.990000	0.984375	0.990000	1.000000																										0				55						c.(2617-2619)Ccg>Tcg		cut-like homeobox 2							7.0	8.0	8.0					12																	111758430		2136	4237	6373	SO:0001583	missense	23316	0	0					g.chr12:111758430C>T	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.2617C>T	chr12.hg19:g.111758430C>T	ENSP00000261726:p.Pro873Ser	1						p.P873S	NM_015267.3	NP_056082.2	2	2	4	2.189533	O14529	CUX2_HUMAN		17	2771	+			A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	0	1	hg19	c.2617C>T	CCDS41837.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159415	0.78226	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.111705	0.64402	D	0.000007	T	0.50582	0.1624	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38972	-0.9636	10	0.12430	T	0.62	-18.0431	16.4424	0.83906	0.0:1.0:0.0:0.0	.	873	O14529	CUX2_HUMAN	S	873	ENSP00000261726:P873S	ENSP00000261726:P873S	P	+	1	0	0	CUX2	110242813	110242813	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	5.678000	0.68153	1.866000	0.54105	0.289000	0.19496	CCG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0		2	2	2	0		0	0	21		21	20	1	2.060000	-18.780790	1	0.170000	NM_015267			12	12		106	103	0		1			0	0	21	0		9.991593e-01	0	0	0	0	0	0	12	106
CUX2	23316	broad.mit.edu	37	12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	889					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)			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						CGAGCAGTACGAGCTGTACAT	0.682																																						ENST00000261726.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2665-2667)Gag>Aag		cut-like homeobox 2							15.0	15.0	15.0					12																	111758478		2196	4291	6487	SO:0001583	missense	23316	0	0					g.chr12:111758478G>A	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.2665G>A	chr12.hg19:g.111758478G>A	ENSP00000261726:p.Glu889Lys	1						p.E889K	NM_015267.3	NP_056082.2	2	2	4	2.189533	O14529	CUX2_HUMAN		17	2819	+			A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	1	1	hg19	c.2665G>A	CCDS41837.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406078	0.83230	.	.	ENSG00000111249	ENST00000261726	T	0.57907	0.37	4.45	4.45	0.53987	4.45	4.45	0.53987	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.112719	0.64402	D	0.000013	T	0.64360	0.2591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69000	-0.5261	10	0.72032	D	0.01	-8.6409	17.126	0.86714	0.0:0.0:1.0:0.0	.	889	O14529	CUX2_HUMAN	K	889	ENSP00000261726:E889K	ENSP00000261726:E889K	E	+	1	0	0	CUX2	110242861	110242861	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	9.347000	0.97059	2.044000	0.60594	0.289000	0.19496	GAG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015267			35	35		97	95	0		1			0	0	37	0		1	0	0	0	0	0	0	35	97
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074					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)			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						GGGAAAGCATCCTGGGTCTGA	0.622																																						ENST00000261726.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				55						c.(3220-3222)atC>atT		cut-like homeobox 2							48.0	54.0	52.0					12																	111776115		1954	4155	6109	SO:0001819	synonymous_variant	23316	0	0					g.chr12:111776115C>T	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.3222C>T	chr12.hg19:g.111776115C>T		1					RNA5SP373_ENST00000517271.1_RNA	p.I1074I	NM_015267.3	NP_056082.2	2	2	4	2.189533	O14529	CUX2_HUMAN		20	3376	+			A7E2Y4	Silent	SNP	ENST00000261726.6	1	1	hg19	c.3222C>T	CCDS41837.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_015267			51	50		332	327	1		1			0	0	71	0		1	0	0	0	0	0	0	51	332
CUX2	23316	broad.mit.edu	37	12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1372	Pro-rich.				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)			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						GGCCGGGGAGCGACTTCACCC	0.617																																						ENST00000261726.6	1.000000	0.370000	1	4.500000e-01	0.570000	0.648541	0.570000	0.520000																										0				55						c.(4114-4116)Cga>Tga		cut-like homeobox 2							57.0	68.0	65.0					12																	111785782		1995	4167	6162	SO:0001587	stop_gained	23316	1	120946	33				g.chr12:111785782C>T	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.4114C>T	chr12.hg19:g.111785782C>T	ENSP00000261726:p.Arg1372*	1						p.R1372*	NM_015267.3	NP_056082.2	2	2	4	2.189533	O14529	CUX2_HUMAN		22	4268	+			A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	0	1	hg19	c.4114C>T	CCDS41837.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.352241	0.98231	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.44	2.58	0.30949	5.44	2.58	0.30949	.	0.320397	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.2563	8.7956	0.34876	0.2665:0.6619:0.0:0.0716	.	.	.	.	X	1372	.	ENSP00000261726:R1372X	R	+	1	2	2	CUX2	110270165	110270165	0.999000	0.42202	0.245000	0.24217	0.302000	0.27658	1.873000	0.39558	0.248000	0.21435	0.557000	0.71058	CGA	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-4.322092	1	0.170000	NM_015267			30	30		705	693	0		1			0	0	112	0		1	0	0	0	0	0	0	30	705
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Silent_p.A869A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					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)			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						CGTTAGGGTGCGCATACTGCT	0.537																																						ENST00000377617.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				37						c.(3400-3402)gcG>gcA		ataxin 2							227.0	186.0	200.0					12																	111895132		2203	4300	6503	SO:0001819	synonymous_variant	6311	0	0					g.chr12:111895132C>T	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.3402G>A	chr12.hg19:g.111895132C>T		1					ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.A827A	p.A1134A	NM_002973.3	NP_002964.3	2	2	4	2.189533	Q99700	ATX2_HUMAN		22	3563	-			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	1	0	hg19	c.3402G>A	CCDS31902.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	0	ATXN2	110379515	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.319172	1	0.170000	NM_002973			36	35		246	238	1		1	1		0	0	60	0		1	9.994260e-01	0	16	0	64	0	36	246
ACAD10	80724	broad.mit.edu	37	12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000313698.4	+	13	2053	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N|ACAD10_ENST00000455480.2_Missense_Mutation_p.S664N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	633						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)			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						CCCACAGGCAGCAGGAGTTAT	0.567																																						ENST00000313698.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1897-1899)aGc>aAc		acyl-CoA dehydrogenase family, member 10							75.0	68.0	70.0					12																	112182630		2203	4300	6503	SO:0001583	missense	80724	0	0					g.chr12:112182630G>A	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.1898G>A	chr12.hg19:g.112182630G>A	ENSP00000325137:p.Ser633Asn	1					ACAD10_ENST00000455480.2_Missense_Mutation_p.S664N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N	p.S633N	NM_025247.5	NP_079523.3	2	2	4	2.189533	Q6JQN1	ACD10_HUMAN		13	2053	+			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	1	1	hg19	c.1898G>A	CCDS31903.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496691	0.26861	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96300	-3.97;3.27;-3.58;-3.58	5.42	-4.51	0.03483	5.42	-4.51	0.03483	.	1.722210	0.02874	N	0.132029	D	0.89283	0.6671	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.18263	0.021;0.0;0.001	D	0.83890	0.0284	10	0.16896	T	0.51	.	6.0316	0.19683	0.0:0.2892:0.3121:0.3986	.	664;633;633	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	235;633;633;664;26;633;214	ENSP00000376411:S235N;ENSP00000446959:S633N;ENSP00000389813:S664N;ENSP00000325137:S633N	ENSP00000325137:S633N	S	+	2	0	0	ACAD10	110667013	110667013	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.299000	0.02754	-1.483000	0.01858	-0.128000	0.14901	AGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_025247			55	54		320	314	1		1	1		0	0	66	0		1	9.992881e-01	0	15	0	50	0	55	320
MAPKAPK5	8550	broad.mit.edu	37	12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000551404.2	+	11	1114	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.Q336*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	336					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493																																						ENST00000551404.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1006-1008)Cag>Tag		mitogen-activated protein kinase-activated protein kinase 5							132.0	133.0	133.0					12																	112326328		1993	4186	6179	SO:0001587	stop_gained	8550	0	0					g.chr12:112326328C>T	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1006C>T	chr12.hg19:g.112326328C>T	ENSP00000449381:p.Gln336*	1					MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.Q336*	p.Q336*			2	2	4	2.189533	Q8IW41	MAPK5_HUMAN		11	1114	+			B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	ENST00000551404.2	0	1	hg19	c.1006C>T	CCDS44975.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.908057	0.98998	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	336;336;336;336;17	.	ENSP00000202788:Q336X	Q	+	1	0	0	MAPKAPK5	110810711	110810711	1.000000	0.71417	0.994000	0.49952	0.660000	0.38997	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	CAG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_139078			129	129		420	411	1		1	1		0	0	98	0		1	1	0	17	0	128	0	129	420
NAA25	80018	broad.mit.edu	37	12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	716						cytoplasm (GO:0005737)				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						CCCATTCTCGGCAGTCTTCTC	0.478																																						ENST00000261745.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.987191	0.990000	1.000000																										0				46						c.(2146-2148)gCc>gTc		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							85.0	88.0	87.0					12																	112481532		2203	4300	6503	SO:0001583	missense	80018	0	0					g.chr12:112481532G>A	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.2147C>T	chr12.hg19:g.112481532G>A	ENSP00000261745:p.Ala716Val	1						p.A716V	NM_024953.3	NP_079229.2	2	2	4	2.189533	Q14CX7	NAA25_HUMAN		18	2395	-			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	1	1	hg19	c.2147C>T	CCDS9159.1	1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444247	0.63067	.	.	ENSG00000111300	ENST00000261745	T	0.23950	1.88	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.303172	0.36482	N	0.002567	T	0.20861	0.0502	N	0.19112	0.55	0.28563	N	0.911021	B;B	0.18741	0.02;0.03	B;B	0.15870	0.014;0.014	T	0.06552	-1.0820	10	0.33141	T	0.24	-1.2518	20.0473	0.97613	0.0:0.0:1.0:0.0	.	716;716	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	716	ENSP00000261745:A716V	ENSP00000261745:A716V	A	-	2	0	0	NAA25	110965915	110965915	1.000000	0.71417	0.959000	0.39883	0.914000	0.54420	5.923000	0.70045	2.722000	0.93159	0.655000	0.94253	GCC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-13.217880	1	0.170000	NM_024953			50	49		537	529	1		1	1		0	0	85	0		1	8.955067e-01	0	5	0	39	0	50	537
NAA25	80018	broad.mit.edu	37	12	112509715	112509715	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	340						cytoplasm (GO:0005737)				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						TGTACTCATCGTTACAACCTT	0.423																																						ENST00000261745.4	1.000000	0.280000	1	4.300000e-01	0.650000	0.690536	0.650000	1.000000																										0				46						c.(1018-1020)aaC>aaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							140.0	114.0	123.0					12																	112509715		2203	4300	6503	SO:0001819	synonymous_variant	80018	0	0					g.chr12:112509715G>A	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.1020C>T	chr12.hg19:g.112509715G>A		1					Y_RNA_ENST00000363818.1_RNA	p.N340N	NM_024953.3	NP_079229.2	2	2	4	2.189533	Q14CX7	NAA25_HUMAN		10	1268	-			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	1	1	hg19	c.1020C>T	CCDS9159.1	0																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	0	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-4.063058	1	0.170000	NM_024953			8	8		181	180	0		1	1		0	0	46	1		9.896118e-01	5.569074e-01	0	2	0	39	0	8	181
NAA25	80018	broad.mit.edu	37	12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	329						cytoplasm (GO:0005737)				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						GCCTAATCAGCTCCAATTTAG	0.413																																						ENST00000261745.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(985-987)gaG>gaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							162.0	131.0	142.0					12																	112509748		2203	4300	6503	SO:0001583	missense	80018	0	0					g.chr12:112509748C>A	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.987G>T	chr12.hg19:g.112509748C>A	ENSP00000261745:p.Glu329Asp	1					Y_RNA_ENST00000363818.1_RNA	p.E329D	NM_024953.3	NP_079229.2	2	2	4	2.189533	Q14CX7	NAA25_HUMAN		10	1235	-			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	1	1	hg19	c.987G>T	CCDS9159.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489392	0.84962	.	.	ENSG00000111300	ENST00000261745	T	0.51817	0.69	5.8	3.92	0.45320	5.8	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61327	-0.7085	10	0.23891	T	0.37	-15.658	9.4966	0.38993	0.0:0.7761:0.0:0.2239	.	329	Q14CX7	NAA25_HUMAN	D	329	ENSP00000261745:E329D	ENSP00000261745:E329D	E	-	3	2	2	NAA25	110994131	110994131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.156000	0.31712	0.730000	0.32425	0.655000	0.94253	GAG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_024953			53	53		159	158	1		1	1		0	0	50	0		1	9.998970e-01	0	15	0	30	0	53	159
TRAFD1	10906	broad.mit.edu	37	12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	236					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGTGGTGAAGAGAGTGCAAA	0.488																																						ENST00000257604.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(706-708)Gag>Tag		TRAF-type zinc finger domain containing 1							99.0	103.0	101.0					12																	112579955		2203	4300	6503	SO:0001587	stop_gained	10906	0	0					g.chr12:112579955G>T	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.706G>T	chr12.hg19:g.112579955G>T	ENSP00000257604:p.Glu236*	1					TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	p.E236*	NM_001143906.1	NP_001137378.1	2	2	4	2.189533	O14545	TRAD1_HUMAN		6	1323	+			A8K5L6|B4DI89	Nonsense_Mutation	SNP	ENST00000257604.5	0	1	hg19	c.706G>T	CCDS9160.1	1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927562	0.73327	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	.	.	.	5.4	4.5	0.54988	5.4	4.5	0.54988	.	0.524979	0.20233	N	0.096455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2931	7.5553	0.27820	0.0927:0.2192:0.6881:0.0	.	.	.	.	X	236;236;236;30	.	ENSP00000257604:E236X	E	+	1	0	0	TRAFD1	111064338	111064338	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	2.653000	0.46691	1.261000	0.44149	0.467000	0.42956	GAG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-4.434754	1	0.170000	NM_006700			84	82		278	275	1		1	1		0	0	64	0		1	1	0	5	0	109	0	84	278
PTPN11	5781	broad.mit.edu	37	12	112919958	112919958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	391	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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						TCAAAGAAAGCGCCGCTCATG	0.398			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q24.1	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	yes	Noonan Syndrome	L	L			JMML, AML, MDS		0				451						c.(1171-1173)agC>agT		protein tyrosine phosphatase, non-receptor type 11							93.0	87.0	89.0					12																	112919958		2203	4298	6501	SO:0001819	synonymous_variant	5781	2	121412	33	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	g.chr12:112919958C>T	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.1173C>T	chr12.hg19:g.112919958C>T		1					PTPN11_ENST00000392597.1_Silent_p.S391S	p.S391S	NM_002834.3	NP_002825.3	2	2	4	2.189533	Q06124	PTN11_HUMAN		10	1371	+			A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	1	1	hg19	c.1173C>T	CCDS9163.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2	1	0	1		2	2	2	0		0	0	88		88	92	1	2.060000	-20.000000	1	0.170000				85	85		409	396	0		1	1		0	0	88	0		1	1	0	38	0	172	0	85	409
RPH3A	22895	broad.mit.edu	37	12	113328755	113328755	+	Silent	SNP	C	C	T	rs199509912	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000548866.1_Silent_p.C525C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	574	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)		TCATACGCTGCGTGCACCTGG	0.582													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000389385.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1720-1722)tgC>tgT		rabphilin 3A							124.0	83.0	97.0					12																	113328755		2203	4300	6503	SO:0001819	synonymous_variant	22895	4	121412	35				g.chr12:113328755C>T	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.1722C>T	chr12.hg19:g.113328755C>T		1					RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.C574C	p.C574C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	2	2	4	2.189533	Q9Y2J0	RP3A_HUMAN		19	2219	+			B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	1	1	hg19	c.1722C>T	CCDS44979.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_014954			47	47		121	118	1		1	0		0	0	31	0		1	0	0	0	0	1	0	47	121
OAS3	4940	broad.mit.edu	37	12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1034	OAS domain 3.				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)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502																																						ENST00000228928.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(3100-3102)cCc>cTc		2'-5'-oligoadenylate synthetase 3, 100kDa							34.0	34.0	34.0					12																	113405976		1913	4123	6036	SO:0001583	missense	4940	0	0					g.chr12:113405976C>T	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.3101C>T	chr12.hg19:g.113405976C>T	ENSP00000228928:p.Pro1034Leu	1					RP1-71H24.1_ENST00000552784.1_RNA	p.P1034L	NM_006187.2	NP_006178.2	2	2	4	2.189533	Q9Y6K5	OAS3_HUMAN		14	3280	+			Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	1	1	hg19	c.3101C>T	CCDS44981.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273682	0.40194	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.88	3.99	0.46301	4.88	3.99	0.46301	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48732	0.1516	M	0.82517	2.595	0.80722	D	1	P	0.50617	0.937	P	0.45428	0.48	T	0.55823	-0.8080	9	0.66056	D	0.02	.	8.9477	0.35769	0.0:0.899:0.0:0.101	.	1034	Q9Y6K5	OAS3_HUMAN	L	1034;1033	ENSP00000228928:P1034L	ENSP00000228928:P1034L	P	+	2	0	0	OAS3	111890359	111890359	0.807000	0.29009	0.936000	0.37596	0.082000	0.17680	1.627000	0.37050	1.270000	0.44297	-0.136000	0.14681	CCC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-5.378753	1	0.170000				43	43		112	112	1		1	1		0	0	36	0		1	1	0	66	0	174	0	43	112
OAS3	4940	broad.mit.edu	37	12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1086					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)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502																																						ENST00000228928.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999435	0.990000	1.000000																										0				27						c.(3256-3258)gCt>gAt		2'-5'-oligoadenylate synthetase 3, 100kDa							54.0	55.0	55.0					12																	113407771		1951	4141	6092	SO:0001583	missense	4940	0	0					g.chr12:113407771C>A	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.3257C>A	chr12.hg19:g.113407771C>A	ENSP00000228928:p.Ala1086Asp	1					RP1-71H24.1_ENST00000552784.1_RNA	p.A1086D	NM_006187.2	NP_006178.2	2	2	4	2.189533	Q9Y6K5	OAS3_HUMAN		16	3436	+			Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	0	1	hg19	c.3257C>A	CCDS44981.1	1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160159	0.21454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.08282	3.11	2.58	2.58	0.30949	2.58	2.58	0.30949	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.09555	0.0235	M	0.64080	1.96	0.32173	N	0.581369	P	0.34587	0.458	B	0.31614	0.133	T	0.05037	-1.0910	9	0.44086	T	0.13	.	8.7834	0.34804	0.0:1.0:0.0:0.0	.	1086	Q9Y6K5	OAS3_HUMAN	D	1086;1085;65	ENSP00000228928:A1086D	ENSP00000228928:A1086D	A	+	2	0	0	OAS3	111892154	111892154	0.017000	0.18338	0.779000	0.31741	0.071000	0.16799	0.341000	0.19909	1.768000	0.52137	0.557000	0.71058	GCT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-18.984820	1	0.170000				10	10		47	46	1		1	1		0	0	12	0		9.975299e-01	9.999989e-01	0	51	0	122	0	10	47
DTX1	1840	broad.mit.edu	37	12	113496015	113496015	+	Silent	SNP	C	C	T	rs377259444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	6					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687																																						ENST00000257600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(16-18)caC>caT		deltex 1, E3 ubiquitin ligase		C		0,4398		0,0,2199	36.0	30.0	32.0		18	-1.5	0.9	12		32	1,8595		0,1,4297	no	coding-synonymous	DTX1	NM_004416.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		6/621	113496015	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	1840	0	0					g.chr12:113496015C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.18C>T	chr12.hg19:g.113496015C>T		1						p.H6H	NM_004416.2	NP_004407.2	2	2	4	2.189533	Q86Y01	DTX1_HUMAN		1	521	+			O60630|Q9BS04	Silent	SNP	ENST00000257600.3	1	1	hg19	c.18C>T	CCDS9164.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				34	33		115	110	0		1	0		0	0	24	0		1	9.340264e-01	0	0	0	18	0	34	115
DTX1	1840	broad.mit.edu	37	12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	42	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647																																						ENST00000257600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(124-126)gCc>gTc		deltex 1, E3 ubiquitin ligase							87.0	77.0	80.0					12																	113496122		2203	4300	6503	SO:0001583	missense	1840	0	0					g.chr12:113496122C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.125C>T	chr12.hg19:g.113496122C>T	ENSP00000257600:p.Ala42Val	1						p.A42V	NM_004416.2	NP_004407.2	2	2	4	2.189533	Q86Y01	DTX1_HUMAN		1	628	+			O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	1	1	hg19	c.125C>T	CCDS9164.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.191844	0.94923	.	.	ENSG00000135144	ENST00000257600	T	0.44083	0.93	3.9	3.9	0.45041	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.48003	0.1476	M	0.64404	1.975	0.49299	D	0.999773	P	0.49447	0.924	P	0.47673	0.554	T	0.54470	-0.8289	10	0.51188	T	0.08	-6.7008	14.8783	0.70513	0.0:1.0:0.0:0.0	.	42	Q86Y01	DTX1_HUMAN	V	42	ENSP00000257600:A42V	ENSP00000257600:A42V	A	+	2	0	0	DTX1	111980505	111980505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.403000	0.66338	2.021000	0.59480	0.555000	0.69702	GCC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000				125	124		376	371	1		1	0		0	0	81	0		1	9.995654e-01	0	0	0	36	0	125	376
DTX1	1840	broad.mit.edu	37	12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	75	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637																																						ENST00000257600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(223-225)Gac>Aac		deltex 1, E3 ubiquitin ligase							121.0	113.0	115.0					12																	113496220		2203	4300	6503	SO:0001583	missense	1840	2	121408	34				g.chr12:113496220G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.223G>A	chr12.hg19:g.113496220G>A	ENSP00000257600:p.Asp75Asn	1						p.D75N	NM_004416.2	NP_004407.2	2	2	4	2.189533	Q86Y01	DTX1_HUMAN		1	726	+			O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	1	1	hg19	c.223G>A	CCDS9164.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000135144	ENST00000257600	T	0.56941	0.43	4.05	4.05	0.47172	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.69823	2.125	0.51012	D	0.999909	D	0.76494	0.999	D	0.83275	0.996	T	0.70241	-0.4926	10	0.36615	T	0.2	-5.2327	15.2014	0.73139	0.0:0.0:1.0:0.0	.	75	Q86Y01	DTX1_HUMAN	N	75	ENSP00000257600:D75N	ENSP00000257600:D75N	D	+	1	0	0	DTX1	111980603	111980603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.104000	0.64026	0.555000	0.69702	GAC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	0	0	0		2	3	2	1		1	0	120		120	119	1	2.060000	-20.000000	1	0.170000				117	117		569	555	1		1	0		1	0	120	0		1	9.609615e-01	0	0	0	37	0	117	569
DTX1	1840	broad.mit.edu	37	12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A	rs370481380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	549					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R549Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGGTGCTGCGGCTGCTCATC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0					ENST00000257600.3	1.000000	0.300000	1	4.900000e-01	0.780000	0.765046	0.780000	1.000000																										1	Substitution - Missense(1)	p.R549Q(1)	large_intestine(1)	32						c.(1645-1647)cGg>cAg		deltex 1, E3 ubiquitin ligase		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	45.0	30.0	35.0		1646	4.0	0.4	12		35	0,8598		0,0,4299	no	missense	DTX1	NM_004416.2	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	549/621	113534527	2,13002	2203	4299	6502	SO:0001583	missense	1840	8	121402	36				g.chr12:113534527G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1646G>A	chr12.hg19:g.113534527G>A	ENSP00000257600:p.Arg549Gln	1					DTX1_ENST00000547974.1_3'UTR	p.R549Q	NM_004416.2	NP_004407.2	2	2	4	2.189533	Q86Y01	DTX1_HUMAN		9	2149	+			O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	0	1	hg19	c.1646G>A	CCDS9164.1	0	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700355	0.48307	4.54E-4	0.0	ENSG00000135144	ENST00000257600	T	0.23754	1.89	4.86	3.97	0.46021	4.86	3.97	0.46021	.	0.066614	0.64402	D	0.000018	T	0.21631	0.0521	L	0.43923	1.385	0.38129	D	0.938091	B	0.22480	0.07	B	0.23716	0.048	T	0.07462	-1.0771	10	0.45353	T	0.12	1.3252	9.057	0.36412	0.1793:0.0:0.8207:0.0	.	549	Q86Y01	DTX1_HUMAN	Q	549	ENSP00000257600:R549Q	ENSP00000257600:R549Q	R	+	2	0	0	DTX1	112018910	112018910	1.000000	0.71417	0.448000	0.26945	0.967000	0.64934	4.614000	0.61183	1.036000	0.39998	0.462000	0.41574	CGG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-9.469537	1	0.170000				6	6		115	112	0		1	1		0	0	24	0		9.634566e-01	9.388319e-01	0	3	0	96	0	6	115
RASAL1	8437	broad.mit.edu	37	12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000261729.5	-	22	2685	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	RASAL1_ENST00000546530.1_Missense_Mutation_p.Q792H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	790					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)			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						GCTCCTGCTGCTGGAACTCCT	0.672																																						ENST00000261729.5	1.000000	0.270000	1	3.800000e-01	0.520000	0.605346	0.520000	0.460000																										0				43						c.(2368-2370)caG>caT		RAS protein activator like 1 (GAP1 like)							39.0	46.0	43.0					12																	113537779		2203	4300	6503	SO:0001583	missense	8437	0	0					g.chr12:113537779C>A	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.2370G>T	chr12.hg19:g.113537779C>A	ENSP00000261729:p.Gln790His	1					RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000546530.1_Missense_Mutation_p.Q792H	p.Q790H			2	2	4	2.189533	O95294	RASL1_HUMAN		22	2685	-			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	1	1	hg19	c.2370G>T	CCDS9165.1	0	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873304	0.51695	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69685	-0.42;-0.34;-0.4;-0.42	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.351753	0.29486	N	0.012005	T	0.75568	0.3867	L	0.54323	1.7	0.34609	D	0.717338	D;D;D;D	0.58970	0.984;0.984;0.973;0.98	P;P;P;P	0.59056	0.851;0.851;0.713;0.804	T	0.82255	-0.0548	10	0.54805	T	0.06	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	791;792;790;762	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	H	792;790;762;791	ENSP00000450244:Q792H;ENSP00000261729:Q790H;ENSP00000395920:Q762H;ENSP00000448510:Q791H	ENSP00000261729:Q790H	Q	-	3	2	2	RASAL1	112022162	112022162	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	3.118000	0.50414	2.543000	0.85770	0.450000	0.29827	CAG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-13.741400	1	0.170000	NM_004658			14	14		380	375	0		1	0		0	0	49	0		9.997431e-01	7.549321e-01	0	1	0	74	0	14	380
RASAL1	8437	broad.mit.edu	37	12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000261729.5	-	15	1775	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	RASAL1_ENST00000546530.1_Missense_Mutation_p.R488Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	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)|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)			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						GTGTTGGTCCCGAAGGTCAAA	0.557																																						ENST00000261729.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1459-1461)cGg>cAg		RAS protein activator like 1 (GAP1 like)							68.0	59.0	62.0					12																	113545942		2203	4300	6503	SO:0001583	missense	8437	2	121412	30				g.chr12:113545942C>T	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.1460G>A	chr12.hg19:g.113545942C>T	ENSP00000261729:p.Arg487Gln	1					RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000546530.1_Missense_Mutation_p.R488Q	p.R487Q			2	2	4	2.189533	O95294	RASL1_HUMAN		15	1775	-			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	1	1	hg19	c.1460G>A	CCDS9165.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096439	0.76870	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.0	5.0	0.66597	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	D	0.000017	T	0.78868	0.4351	L	0.56396	1.775	0.54753	D	0.999981	P;P;P;P;P;P;P	0.52316	0.743;0.532;0.698;0.902;0.852;0.952;0.88	B;B;B;B;B;P;B	0.45971	0.2;0.221;0.126;0.319;0.263;0.499;0.213	T	0.82514	-0.0419	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	488;487;487;487	ENSP00000450244:R488Q;ENSP00000261729:R487Q;ENSP00000395920:R487Q;ENSP00000448510:R487Q	ENSP00000261729:R487Q	R	-	2	0	0	RASAL1	112030325	112030325	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.280000	0.78610	2.323000	0.78572	0.555000	0.69702	CGG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-4.113594	1	0.170000	NM_004658			49	48		150	143	1		1	1		0	0	39	0		1	9.999999e-01	0	46	0	33	0	49	150
RASAL1	8437	broad.mit.edu	37	12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000261729.5	-	12	1364	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000546530.1_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	350	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)|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)			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						CTGTTCCATCGACTTGGATGC	0.572																																						ENST00000261729.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1048-1050)tCg>tTg		RAS protein activator like 1 (GAP1 like)							200.0	199.0	200.0					12																	113553024		2203	4300	6503	SO:0001583	missense	8437	0	0					g.chr12:113553024G>A	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.1049C>T	chr12.hg19:g.113553024G>A	ENSP00000261729:p.Ser350Leu	1					RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000546530.1_Missense_Mutation_p.S350L	p.S350L			2	2	4	2.189533	O95294	RASL1_HUMAN		12	1364	-			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	1	1	hg19	c.1049C>T	CCDS9165.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029248	0.93518	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.78	4.78	0.61160	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.192965	0.46442	D	0.000297	T	0.79975	0.4539	L	0.37750	1.13	0.44745	D	0.997741	P;P;P;P;P;D;P	0.60160	0.953;0.889;0.942;0.953;0.873;0.987;0.942	P;P;B;P;B;P;B	0.56700	0.557;0.653;0.422;0.557;0.404;0.804;0.422	T	0.81673	-0.0826	10	0.52906	T	0.07	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	350;350;350;362;350;350;350	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	L	350	ENSP00000450244:S350L;ENSP00000261729:S350L;ENSP00000395920:S350L;ENSP00000448510:S350L	ENSP00000261729:S350L	S	-	2	0	0	RASAL1	112037407	112037407	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.312000	0.78968	2.205000	0.71048	0.491000	0.48974	TCG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	1	0	1		2	2	2	0		0	0	156		156	153	1	2.060000	-20.000000	1	0.170000	NM_004658			148	147		789	777	1		1	1		0	0	156	0		1	9.999134e-01	0	32	0	40	0	148	789
RASAL1	8437	broad.mit.edu	37	12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000261729.5	-	8	953	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000546530.1_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	213	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)			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						GCTCACCATGCCCAAGAAGTC	0.612																																						ENST00000261729.5	1.000000	0.170000	1	2.200000e-01	0.290000	0.447303	0.290000	0.260000																										0				43						c.(637-639)gGc>gAc		RAS protein activator like 1 (GAP1 like)							146.0	129.0	135.0					12																	113556937		2203	4300	6503	SO:0001583	missense	8437	0	0					g.chr12:113556937C>T	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.638G>A	chr12.hg19:g.113556937C>T	ENSP00000261729:p.Gly213Asp	1					RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000546530.1_Missense_Mutation_p.G213D	p.G213D			2	2	4	2.189533	O95294	RASL1_HUMAN		8	953	-			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	1	1	hg19	c.638G>A	CCDS9165.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.069803	0.93950	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057398	0.64402	D	0.000001	D	0.98795	0.9594	H	0.98446	4.235	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	213;213;213;225;213;213;213	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	213	ENSP00000450244:G213D;ENSP00000261729:G213D;ENSP00000395920:G213D;ENSP00000448510:G213D	ENSP00000261729:G213D	G	-	2	0	0	RASAL1	112041320	112041320	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.389000	0.79806	2.592000	0.87571	0.511000	0.50034	GGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	0	0	1		2	2	2	0		0	0	197		197	193	1	2.060000	-2.642191	1	0.170000	NM_004658			21	19		981	962	0		1	1		0	0	197	0		9.999967e-01	2.429660e-01	0	4	0	39	0	21	981
DDX54	79039	broad.mit.edu	37	12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A	rs200245814		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000306014.5	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000314045.7_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	800					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572																																						ENST00000306014.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2398-2400)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							194.0	140.0	158.0					12																	113599090		2203	4300	6503	SO:0001587	stop_gained	79039	0	0					g.chr12:113599090G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2398C>T	chr12.hg19:g.113599090G>A	ENSP00000304072:p.Arg800*	1					DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000314045.7_Nonsense_Mutation_p.R800*	p.R800*	NM_024072.3	NP_076977.3	2	2	4	2.189533	Q8TDD1	DDX54_HUMAN		19	2425	-			Q86YT8|Q9BRZ1	Nonsense_Mutation	SNP	ENST00000306014.5	0	1	hg19	c.2398C>T	CCDS31907.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.605751	0.97701	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	4.79	-0.117	0.13551	4.79	-0.117	0.13551	.	0.233607	0.35291	N	0.003304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7572	0.08589	0.0886:0.1214:0.4372:0.3529	.	.	.	.	X	800	.	ENSP00000304072:R800X	R	-	1	2	2	DDX54	112083473	112083473	0.000000	0.05858	0.990000	0.47175	0.597000	0.36814	0.426000	0.21363	0.395000	0.25257	0.491000	0.48974	CGA	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.331047	1	0.170000	NM_024072			67	65		299	291	1		1	1		0	0	47	0		1	1	0	48	0	220	0	67	299
DDX54	79039	broad.mit.edu	37	12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000306014.5	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000314045.7_Missense_Mutation_p.V511I	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	511					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662																																						ENST00000306014.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1531-1533)Gtt>Att		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							60.0	58.0	59.0					12																	113603721		2203	4300	6503	SO:0001583	missense	79039	6	121408	38				g.chr12:113603721C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1531G>A	chr12.hg19:g.113603721C>T	ENSP00000304072:p.Val511Ile	1					DDX54_ENST00000314045.7_Missense_Mutation_p.V511I	p.V511I	NM_024072.3	NP_076977.3	2	2	4	2.189533	Q8TDD1	DDX54_HUMAN		13	1558	-			Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	1	1	hg19	c.1531G>A	CCDS31907.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895350	0.33442	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.14144	2.53;2.53	4.69	3.8	0.43715	4.69	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.80028	2.48	0.53005	D	0.999967	P;P	0.45283	0.855;0.773	B;B	0.38020	0.263;0.135	T	0.08166	-1.0735	10	0.54805	T	0.06	.	12.58	0.56386	0.0:0.9185:0.0:0.0815	.	511;511	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	I	511	ENSP00000323858:V511I;ENSP00000304072:V511I	ENSP00000304072:V511I	V	-	1	0	0	DDX54	112088104	112088104	0.990000	0.36364	0.246000	0.24233	0.002000	0.02628	2.884000	0.48562	1.188000	0.43014	0.655000	0.94253	GTT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_024072			102	102		302	296	1		1	1		0	0	63	0		1	1	0	85	0	110	0	102	302
RITA1	84934	broad.mit.edu	37	12	113629192	113629192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113629192C>T	ENST00000548278.1	+	4	1072	c.380C>T	c.(379-381)cCg>cTg	p.P127L	C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		127					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)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCGGGGCCCCGCGGATGGCG	0.647																																						ENST00000548278.1	1.000000	0.180000	1	2.700000e-01	0.410000	0.526119	0.410000	0.340000																										0				5						c.(379-381)cCg>cTg									29.0	31.0	30.0					12																	113629192		2203	4300	6503	SO:0001583	missense	0	3	121390	31				g.chr12:113629192C>T																												ENST00000548278.1:c.380C>T	chr12.hg19:g.113629192C>T	ENSP00000449841:p.Pro127Leu	1					C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	p.P127L	NM_032848.1	NP_116237.1	2	2	4	2.189533	Q96K30	RITA1_HUMAN		4	1072	+			B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	0	1	hg19	c.380C>T	CCDS9166.1	0	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725635	0.15439	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.49720	0.82;0.82;0.77	4.39	3.48	0.39840	4.39	3.48	0.39840	.	0.651748	0.13491	N	0.383941	T	0.50582	0.1624	M	0.66939	2.045	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.48030	0.564;0.564;0.564	T	0.39313	-0.9620	10	0.42905	T	0.14	-0.7116	9.4921	0.38967	0.2107:0.7893:0.0:0.0	.	127;151;127	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	L	127;127;151;127;127;124	ENSP00000448289:P127L;ENSP00000449841:P127L;ENSP00000448680:P151L	ENSP00000266813:P124L	P	+	2	0	0	C12orf52	112113575	112113575	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	1.496000	0.35638	1.032000	0.39892	0.655000	0.94253	CCG	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1	0	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-3.415215	1	0.170000				8	7		290	283	0		1	1		0	0	42	0		9.884057e-01	9.106135e-01	0	6	0	151	0	8	290
TPCN1	53373	broad.mit.edu	37	12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000335509.6	+	3	432	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	40					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)			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						TGCAGATGGCGGCAGCTATGC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18863	0.0		0.0	False		,,,				2504	0.0					ENST00000335509.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				40						c.(118-120)Ggc>Agc		two pore segment channel 1		G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	56.0	53.0	54.0		118,334	3.5	1.0	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense	TPCN1	NM_017901.4,NM_001143819.1	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	40/817,112/889	113698178	6,13000	2203	4300	6503	SO:0001583	missense	53373	8	121412	39				g.chr12:113698178G>A	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.118G>A	chr12.hg19:g.113698178G>A	ENSP00000335300:p.Gly40Ser	1					TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000392569.4_5'UTR	p.G40S	NM_017901.4	NP_060371.2	2	2	4	2.189533	Q9ULQ1	TPC1_HUMAN		3	432	+			A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	1	1	hg19	c.118G>A	CCDS31908.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086673	0.55861	0.001362	0.0	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.38	3.49	0.39957	4.38	3.49	0.39957	.	0.294004	0.32608	N	0.005863	T	0.38081	0.1027	M	0.62723	1.935	0.46149	D	0.998893	B;B	0.26081	0.141;0.026	B;B	0.28784	0.094;0.015	T	0.13926	-1.0491	10	0.19590	T	0.45	-17.5962	10.5864	0.45286	0.0896:0.0:0.9104:0.0	.	112;40	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	16;95;126;40;112;40;112;112	ENSP00000447806:G16S;ENSP00000449560:G95S;ENSP00000447569:G126S;ENSP00000447073:G40S;ENSP00000447263:G112S;ENSP00000335300:G40S;ENSP00000448083:G112S;ENSP00000438125:G112S	ENSP00000335300:G40S	G	+	1	0	0	TPCN1	112182561	112182561	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.386000	0.52492	1.074000	0.40909	0.591000	0.81541	GGC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-2.808737	1	0.170000	NM_017901			38	36		238	232	1		1	1		0	0	67	0		1	9.999791e-01	0	29	0	76	0	38	238
ERC1	23085	broad.mit.edu	37	12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	185					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)			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)			TCAATGAATAGCATCAAGACC	0.428																																						ENST00000397203.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				38						c.(553-555)aGc>aTc		ELKS/RAB6-interacting/CAST family member 1							90.0	84.0	86.0					12																	1137623		2203	4300	6503	SO:0001583	missense	23085	0	0					g.chr12:1137623G>T	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.554G>T	chr12.hg19:g.1137623G>T	ENSP00000380386:p.Ser185Ile	0					ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I	p.S185I			0	0	0	1.930325	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)	2	960	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	1	1	hg19	c.554G>T	CCDS8508.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020112	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.70518	0.3233	M	0.74647	2.275	0.49299	D	0.999773	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.952;0.965;0.99	T	0.70781	-0.4779	10	0.52906	T	0.07	-12.3985	19.7395	0.96220	0.0:0.0:1.0:0.0	.	185;185;185	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	I	185	ENSP00000340054:S185I;ENSP00000380386:S185I;ENSP00000438546:S185I;ENSP00000445336:S185I;ENSP00000442976:S185I;ENSP00000442739:S185I;ENSP00000347621:S185I;ENSP00000354158:S185I;ENSP00000410064:S185I	ENSP00000299183:S185I	S	+	2	0	0	ERC1	1007884	1007884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.147000	0.71783	2.669000	0.90835	0.655000	0.94253	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_015064			50	50		258	258	1		1	1		0	0	64	0		1	9.675848e-01	0	6	0	25	0	50	258
TPCN1	53373	broad.mit.edu	37	12	113729700	113729700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	ENST00000335509.6	+	25	2364	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000550785.1_Missense_Mutation_p.A756T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	684					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)			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						GATCATTGTCGCCTTTATCCT	0.597																																						ENST00000335509.6	1.000000	0.120000	1	1.800000e-01	0.280000	0.432012	0.280000	0.230000																										0				40						c.(2050-2052)Gcc>Acc		two pore segment channel 1							134.0	110.0	118.0					12																	113729700		2203	4300	6503	SO:0001583	missense	53373	1	121412	29				g.chr12:113729700G>A	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.2050G>A	chr12.hg19:g.113729700G>A	ENSP00000335300:p.Ala684Thr	1					TPCN1_ENST00000550785.1_Missense_Mutation_p.A756T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T	p.A684T	NM_017901.4	NP_060371.2	2	2	4	2.189533	Q9ULQ1	TPC1_HUMAN		25	2364	+			A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	0	1	hg19	c.2050G>A	CCDS31908.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.599683	0.96614	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.18	5.18	0.71444	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	D	0.98389	1.0562	10	0.87932	D	0	-36.4881	19.0502	0.93039	0.0:0.0:1.0:0.0	.	756;684	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	684;756;756;616	ENSP00000335300:A684T;ENSP00000448083:A756T;ENSP00000438125:A756T;ENSP00000376350:A616T	ENSP00000335300:A684T	A	+	1	0	0	TPCN1	112214083	112214083	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	9.199000	0.95003	2.560000	0.86352	0.561000	0.74099	GCC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.354617	1	0.170000	NM_017901			9	8		478	464	0		1	1		0	0	76	0		9.934316e-01	8.384139e-01	0	5	0	173	0	9	478
PLBD2	196463	broad.mit.edu	37	12	113810480	113810480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000280800.3	+	3	442	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000545182.2_Silent_p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	137					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612																																						ENST00000280800.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(409-411)acG>acA		phospholipase B domain containing 2							110.0	109.0	110.0					12																	113810480		2203	4300	6503	SO:0001819	synonymous_variant	196463	2	121412	35				g.chr12:113810480G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.411G>A	chr12.hg19:g.113810480G>A		1					PLBD2_ENST00000545182.2_Silent_p.T137T	p.T137T	NM_173542.3	NP_775813.2	2	2	4	2.189533	Q8NHP8	PLBL2_HUMAN		3	442	+			F5H5E2	Silent	SNP	ENST00000280800.3	1	1	hg19	c.411G>A	CCDS9168.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-2.287395	0	0.170000	NM_173542			140	139		804	781	1		1	1		0	0	144	0		1	1	0	17	0	127	0	140	804
PLBD2	196463	broad.mit.edu	37	12	113822071	113822071	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113822071G>A	ENST00000280800.3	+	7	1149		c.e7+1		PLBD2_ENST00000545182.2_Splice_Site	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2						lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACAGCGGCACGTGAGTGGGCT	0.622																																						ENST00000280800.3	1.000000	0.150000	1	2.300000e-01	0.360000	0.487580	0.360000	0.310000																										0				13						c.e7+1		phospholipase B domain containing 2							53.0	48.0	50.0					12																	113822071		2203	4300	6503	SO:0001630	splice_region_variant	196463	0	0					g.chr12:113822071G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1118+1G>A	chr12.hg19:g.113822071G>A		1					PLBD2_ENST00000545182.2_Splice_Site		NM_173542.3	NP_775813.2	2	2	4	2.189533	Q8NHP8	PLBL2_HUMAN		7	1149	+			F5H5E2	Splice_Site	SNP	ENST00000280800.3	0	1	hg19		CCDS9168.1	0	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529805	0.64860	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	.	.	.	4.98	4.98	0.66077	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2668	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PLBD2	112306454	112306454	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.747000	0.85070	2.306000	0.77630	0.305000	0.20034	.	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	0	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-8.161150	1	0.170000	NM_173542	Intron		8	7		335	330	0		1	0		0	0	68	0		9.887967e-01	7.539583e-04	0	0	0	2	0	8	335
PLBD2	196463	broad.mit.edu	37	12	113824778	113824778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000280800.3	+	10	1354	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_ENST00000545182.2_Silent_p.Q409Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	441					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612																																						ENST00000280800.3	1.000000	0.380000	1	4.900000e-01	0.630000	0.691841	0.630000	0.580000																										0				13						c.(1321-1323)caG>caA		phospholipase B domain containing 2							68.0	63.0	64.0					12																	113824778		2203	4300	6503	SO:0001819	synonymous_variant	196463	0	0					g.chr12:113824778G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1323G>A	chr12.hg19:g.113824778G>A		1					PLBD2_ENST00000545182.2_Silent_p.Q409Q	p.Q441Q	NM_173542.3	NP_775813.2	2	2	4	2.189533	Q8NHP8	PLBL2_HUMAN		10	1354	+			F5H5E2	Silent	SNP	ENST00000280800.3	1	1	hg19	c.1323G>A	CCDS9168.1	0																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-19.937760	1	0.170000	NM_173542			21	21		450	440	0		1	1		0	0	70	0		9.999970e-01	9.962479e-01	0	6	0	185	0	21	450
PRB3	5544	broad.mit.edu	37	12	11420871	11420871	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Silent_p.P104P			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	104	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637																																						ENST00000279573.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(310-312)ccA>ccG		proline-rich protein BstNI subfamily 3							146.0	179.0	168.0					12																	11420871		2031	4209	6240	SO:0001819	synonymous_variant	5544	0	0					g.chr12:11420871T>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.312A>G	chr12.hg19:g.11420871T>C		0					PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Silent_p.P104P	p.P104P			1	2	3	2.002308	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)	3	447	-			Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	1	1	hg19	c.312A>G		1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	0	0	1		16	2	2	1		1	1	402		402	404	1	2.060000	-20.000000	1	0.170000	NM_006249			381	342		1620	1382	1		1			1	0	402	0		1	0	0	0	0	0	0	381	1620
PLBD2	196463	broad.mit.edu	37	12	113825591	113825591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000280800.3	+	11	1513	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_ENST00000545182.2_Silent_p.A462A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	494					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607																																						ENST00000280800.3	1.000000	0.440000	1	4.900000e-01	0.550000	0.647303	0.550000	0.550000																										0				13						c.(1480-1482)gcC>gcA		phospholipase B domain containing 2							292.0	282.0	286.0					12																	113825591		2203	4300	6503	SO:0001819	synonymous_variant	196463	0	0					g.chr12:113825591C>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1482C>A	chr12.hg19:g.113825591C>A		1					PLBD2_ENST00000545182.2_Silent_p.A462A	p.A494A	NM_173542.3	NP_775813.2	2	2	4	2.189533	Q8NHP8	PLBL2_HUMAN		11	1513	+			F5H5E2	Silent	SNP	ENST00000280800.3	1	1	hg19	c.1482C>A	CCDS9168.1	0																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	1		2	2	2	0		0	0	490		490	486	1	2.060000	-5.855368	1	0.170000	NM_173542			103	103		2382	2324	0		1	1		0	0	490	0		1	9.988321e-01	0	8	0	213	0	103	2382
RBM19	9904	broad.mit.edu	37	12	114282486	114282486	+	Silent	SNP	G	G	A	rs368224110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	924					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652																																						ENST00000545145.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2770-2772)gcC>gcT		RNA binding motif protein 19		A	,,	0,4406		0,0,2203	35.0	32.0	33.0		2772,2772,2772	-10.2	0.0	12		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	924/961,924/961,924/961	114282486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9904	2	121392	35				g.chr12:114282486G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2772C>T	chr12.hg19:g.114282486G>A		1					RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	p.A924A	NM_001146699.1	NP_001140171.1	2	2	4	2.189533	Q9Y4C8	RBM19_HUMAN		23	2850	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	1	1	hg19	c.2772C>T	CCDS9172.1	1																																																																																								2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_016196			44	44		111	108	1		1	1		0	0	26	0		1	9.999997e-01	0	14	0	51	0	44	111
RBM19	9904	broad.mit.edu	37	12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I|RBM19_ENST00000261741.5_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	587	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637																																						ENST00000545145.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.998369	0.990000	1.000000																										0				55						c.(1759-1761)aCt>aTt		RNA binding motif protein 19							75.0	78.0	77.0					12																	114377943		2203	4300	6503	SO:0001583	missense	9904	0	0					g.chr12:114377943G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1760C>T	chr12.hg19:g.114377943G>A	ENSP00000442053:p.Thr587Ile	1					RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	p.T587I	NM_001146699.1	NP_001140171.1	2	2	4	2.189533	Q9Y4C8	RBM19_HUMAN		15	1838	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	1	1	hg19	c.1760C>T	CCDS9172.1	1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647010	0.67358	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.3	4.3	0.51218	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.254274	0.37761	N	0.001945	T	0.29652	0.0740	M	0.93328	3.405	0.49915	D	0.999838	P	0.51240	0.943	P	0.55999	0.789	T	0.48007	-0.9072	10	0.62326	D	0.03	-12.7428	16.7648	0.85521	0.0:0.0:1.0:0.0	.	587	Q9Y4C8	RBM19_HUMAN	I	587	ENSP00000442053:T587I;ENSP00000376344:T587I;ENSP00000261741:T587I	ENSP00000261741:T587I	T	-	2	0	0	RBM19	112862326	112862326	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	4.823000	0.62694	1.964000	0.57103	0.561000	0.74099	ACT	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_016196			67	65		643	635	0		1	1		0	0	116	0		1	9.857993e-01	0	9	0	56	0	67	643
RBM19	9904	broad.mit.edu	37	12	114385222	114385222	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	ENST00000545145.2	-	11	1402	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_ENST00000392561.3_Missense_Mutation_p.P442T|RBM19_ENST00000261741.5_Missense_Mutation_p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAACCCTTGGGTTTCTTGGTC	0.602																																						ENST00000545145.2	1.000000	0.230000	1	3.200000e-01	0.460000	0.565387	0.460000	0.400000																										0				55						c.(1324-1326)Ccc>Acc		RNA binding motif protein 19							133.0	114.0	121.0					12																	114385222		2203	4300	6503	SO:0001583	missense	9904	0	0					g.chr12:114385222G>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1324C>A	chr12.hg19:g.114385222G>T	ENSP00000442053:p.Pro442Thr	1					RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	p.P442T	NM_001146699.1	NP_001140171.1	2	2	4	2.189533	Q9Y4C8	RBM19_HUMAN		11	1402	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	0	1	hg19	c.1324C>A	CCDS9172.1	0	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585491	0.28268	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06371	3.31;3.31;3.31	5.15	4.24	0.50183	5.15	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116307	0.64402	D	0.000014	T	0.08088	0.0202	L	0.33245	0.995	0.52099	D	0.999942	B	0.24186	0.099	B	0.36378	0.223	T	0.29458	-1.0011	10	0.19147	T	0.46	-24.7373	14.8359	0.70183	0.0:0.0:0.8547:0.1453	.	442	Q9Y4C8	RBM19_HUMAN	T	442	ENSP00000442053:P442T;ENSP00000376344:P442T;ENSP00000261741:P442T	ENSP00000261741:P442T	P	-	1	0	0	RBM19	112869605	112869605	1.000000	0.71417	0.926000	0.36857	0.982000	0.71751	6.171000	0.71926	1.141000	0.42275	0.655000	0.94253	CCC	2.491406e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-11.451580	1	0.170000	NM_016196			11	11		341	329	0		1	1		0	0	58	0		9.980567e-01	7.594951e-01	0	6	0	80	0	11	341
TBX3	6926	broad.mit.edu	37	12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000257566.3	-	1	636	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000349155.2_Missense_Mutation_p.P83S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	83					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)			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)		TGCGCCTGGGGCCCCAGGGAG	0.657																																						ENST00000257566.3			0	0																														0				47						c.(247-249)Ccc>Tcc		T-box 3							25.0	30.0	28.0					12																	115120759		2201	4298	6499	SO:0001583	missense	6926	0	0					g.chr12:115120759G>A	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.247C>T	chr12.hg19:g.115120759G>A	ENSP00000257566:p.Pro83Ser						TBX3_ENST00000349155.2_Missense_Mutation_p.P83S	p.P83S	NM_016569.3	NP_057653.3					O15119	TBX3_HUMAN		1	636	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	1	1	hg19	c.247C>T	CCDS9176.1		.	.	.	.	.	.	.	.	.	.	G	12.64	1.997824	0.35226	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.21	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.140152	0.64402	D	0.000004	T	0.77363	0.4119	N	0.12182	0.205	0.41046	D	0.985269	B;B;B	0.25719	0.003;0.132;0.018	B;B;B	0.35278	0.002;0.199;0.014	T	0.71461	-0.4586	10	0.07482	T	0.82	.	14.416	0.67151	0.0:0.0:0.8519:0.1481	.	83;83;83	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	83	ENSP00000257567:P83S;ENSP00000257566:P83S	ENSP00000257566:P83S	P	-	1	0	0	TBX3	113605142	113605142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.419000	0.82065	0.655000	0.94253	CCC			TCGA-IB-7651-01A-11D-2154-08	0.657	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_016569, NM_005996			67	66		223	214	1		1	1		0	0	38	0		1	9.821313e-01	0	8	0	16	0	67	223
MED13L	23389	broad.mit.edu	37	12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)		AAGGAGGATACTCCAATCTGA	0.418																																						ENST00000281928.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(5737-5739)aGt>aAt		mediator complex subunit 13-like							96.0	90.0	92.0					12																	116410035		2203	4300	6503	SO:0001583	missense	23389	0	0					g.chr12:116410035C>T	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.5738G>A	chr12.hg19:g.116410035C>T	ENSP00000281928:p.Ser1913Asn	0						p.S1913N	NM_015335.4	NP_056150.1	0	1	1	1.988890	Q71F56	MD13L_HUMAN		26	5944	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	1	1	hg19	c.5738G>A	CCDS9177.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879851	0.91740	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91573	0.5273	10	0.66056	D	0.02	-12.2036	18.3134	0.90208	0.0:1.0:0.0:0.0	.	1913	Q71F56	MD13L_HUMAN	N	1913	ENSP00000281928:S1913N	ENSP00000281928:S1913N	S	-	2	0	0	MED13L	114894418	114894418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.631000	0.89168	0.563000	0.77884	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				65	64		293	289	1		1	1		0	0	49	0		1	9.999835e-01	0	4	0	71	0	65	293
MED13L	23389	broad.mit.edu	37	12	116421119	116421119	+	Silent	SNP	C	C	T	rs141818426	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116421119C>T	ENST00000281928.3	-	21	4964	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1586	Ser-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)		ACGATGAGACCGGTGGCACAG	0.532													C|||	10	0.00199681	0.0008	0.0	5008	,	,		20745	0.0079		0.0	False		,,,				2504	0.001					ENST00000281928.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(4756-4758)ccG>ccA		mediator complex subunit 13-like		C		3,4403	6.2+/-15.9	0,3,2200	135.0	124.0	128.0		4758	-10.4	0.1	12	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	MED13L	NM_015335.4		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1586/2211	116421119	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23389	113	121412	52				g.chr12:116421119C>T	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.4758G>A	chr12.hg19:g.116421119C>T		0						p.P1586P	NM_015335.4	NP_056150.1	0	1	1	1.988890	Q71F56	MD13L_HUMAN		21	4964	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	1	0	hg19	c.4758G>A	CCDS9177.1	1	9	0.004120879120879121	1	0.0020325203252032522	0	0.0	8	0.013986013986013986	0	0.0	C	8.603	0.887370	0.17540	6.81E-4	0.0	ENSG00000123066	ENST00000549786	.	.	.	5.87	-10.4	0.00318	5.87	-10.4	0.00318	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.12016	-1.0564	4	.	.	.	.	4.4952	0.11833	0.0789:0.2318:0.3869:0.3024	.	.	.	.	Q	41	.	.	R	-	2	0	0	MED13L	114905502	114905502	0.000000	0.05858	0.081000	0.20488	0.999000	0.98932	-2.537000	0.00939	-1.928000	0.01059	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.889705	1	0.170000				65	64		300	295	1		1	1		0	0	74	0		1	9.999946e-01	0	8	0	76	0	65	300
MED13L	23389	broad.mit.edu	37	12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	433						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)		ACTGCACAACGTTTTAAAAGC	0.383																																						ENST00000281928.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1297-1299)Cgt>Tgt		mediator complex subunit 13-like							82.0	78.0	79.0					12																	116446921		2202	4300	6502	SO:0001583	missense	23389	4	121398	34				g.chr12:116446921G>A	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.1297C>T	chr12.hg19:g.116446921G>A	ENSP00000281928:p.Arg433Cys	0						p.R433C	NM_015335.4	NP_056150.1	0	1	1	1.988890	Q71F56	MD13L_HUMAN		10	1503	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	1	1	hg19	c.1297C>T	CCDS9177.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824145	0.50739	.	.	ENSG00000123066	ENST00000281928	T	0.74842	-0.88	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.330564	0.34484	N	0.003940	D	0.83788	0.5330	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	P	0.61722	0.893	T	0.82602	-0.0376	10	0.45353	T	0.12	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	433	Q71F56	MD13L_HUMAN	C	433	ENSP00000281928:R433C	ENSP00000281928:R433C	R	-	1	0	0	MED13L	114931304	114931304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.732000	0.93576	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000				68	65		287	281	1		1	1		0	0	72	0		1	9.999944e-01	0	15	0	62	0	68	287
MED13L	23389	broad.mit.edu	37	12	116714891	116714891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116714891C>T	ENST00000281928.3	-	1	252	c.46G>A	c.(46-48)Gat>Aat	p.D16N	MED13L_ENST00000551197.1_5'Flank	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	16						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)		GAGTGACAATCCTCCAGGCTC	0.716																																						ENST00000281928.3	1.000000	0.810000	1	9.900000e-01	0.990000	0.988746	0.990000	1.000000																										0				85						c.(46-48)Gat>Aat		mediator complex subunit 13-like							10.0	9.0	9.0					12																	116714891		2122	4184	6306	SO:0001583	missense	23389	0	0					g.chr12:116714891C>T	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.46G>A	chr12.hg19:g.116714891C>T	ENSP00000281928:p.Asp16Asn	0					MED13L_ENST00000551197.1_5'Flank	p.D16N	NM_015335.4	NP_056150.1	0	1	1	1.988890	Q71F56	MD13L_HUMAN		1	252	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	0	1	hg19	c.46G>A	CCDS9177.1	1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506221	0.64410	.	.	ENSG00000123066	ENST00000281928	D	0.87256	-2.23	2.44	1.51	0.23008	2.44	1.51	0.23008	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	1.203760	0.06820	N	0.792134	D	0.86543	0.5958	M	0.81341	2.54	0.31603	N	0.652473	B	0.16396	0.017	B	0.09377	0.004	T	0.77582	-0.2534	10	0.62326	D	0.03	.	6.5042	0.22186	0.0:0.8402:0.0:0.1598	.	16	Q71F56	MD13L_HUMAN	N	16	ENSP00000281928:D16N	ENSP00000281928:D16N	D	-	1	0	0	MED13L	115199274	115199274	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.716000	0.68437	0.137000	0.18759	0.385000	0.25706	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	0	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-14.991890	1	0.170000				7	7		34	34	0		1	1		0	0	11	0		9.839208e-01	9.358995e-01	0	5	0	22	0	7	34
MAP1LC3B2	643246	broad.mit.edu	37	12	117013978	117013978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000556529.1	+	1	323	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	77					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448																																						ENST00000556529.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(229-231)caG>caA		microtubule-associated protein 1 light chain 3 beta 2							127.0	124.0	125.0					12																	117013978		2203	4300	6503	SO:0001819	synonymous_variant	643246	0	0					g.chr12:117013978G>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.231G>A	chr12.hg19:g.117013978G>A		0					MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q	p.Q77Q			0	1	1	1.988890	A6NCE7	MP3B2_HUMAN		1	323	+				Silent	SNP	ENST00000556529.1	1	1	hg19	c.231G>A	CCDS41841.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	1	0	1		2	2	2	0		0	0	104		104	116	1	2.060000	-20.000000	1	0.170000	NM_001085481			116	109		508	473	1		1	0		0	0	104	0		1	9.072253e-01	0	0	0	20	0	116	508
C12orf49	79794	broad.mit.edu	37	12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	192						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587																																						ENST00000261318.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998705	0.990000	1.000000																										0				4						c.(574-576)aAg>aCg		chromosome 12 open reading frame 49							53.0	44.0	47.0					12																	117155658		2203	4299	6502	SO:0001583	missense	79794	0	0					g.chr12:117155658T>G	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.575A>C	chr12.hg19:g.117155658T>G	ENSP00000261318:p.Lys192Thr	0					C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T|C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T	p.K192T	NM_024738.1	NP_079014.1	0	1	1	1.988890	Q9H741	CL049_HUMAN		5	735	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	0	1	hg19	c.575A>C	CCDS9179.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.848629|4.848629	0.91277|0.91277	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000261318;ENST00000548356;ENST00000536380|ENST00000547606	T|.	0.54675|.	0.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.86268|0.86268	2.805|2.805	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	0.81944|0.81944	-0.0701|-0.0701	10|5	0.72032|.	D|.	0.01|.	-40.1457|-40.1457	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	162;192|.	F5H6Y2;Q9H741|.	.;CL049_HUMAN|.	T|R	192;33;162|30	ENSP00000261318:K192T|.	ENSP00000261318:K192T|.	K|S	-|-	2|1	0|0	0|0	C12orf49|C12orf49	115640041|115640041	115640041|115640041	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.884000|7.884000	0.87274|0.87274	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	AAG|AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999890	1	0.170000	NM_024738			13	13		60	59	1		1	1		0	0	12	0		9.996733e-01	9.999000e-01	0	27	0	58	0	13	60
RNFT2	84900	broad.mit.edu	37	12	117187661	117187661	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	ENST00000257575.4	+	4	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_ENST00000319176.7_Silent_p.A33A|RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCAGCCAGGCGCTCAGCTCCG	0.582																																						ENST00000257575.4	1.000000	0.790000	1	9.900000e-01	0.990000	0.987499	0.990000	1.000000																										0				6						c.(97-99)gcG>gcA		ring finger protein, transmembrane 2							12.0	17.0	15.0					12																	117187661		2059	4209	6268	SO:0001819	synonymous_variant	84900	0	0					g.chr12:117187661G>A	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.99G>A	chr12.hg19:g.117187661G>A		0					RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A|RNFT2_ENST00000319176.7_Silent_p.A33A	p.A33A			0	1	1	1.988890	Q96EX2	RNFT2_HUMAN		4	332	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	0	1	hg19	c.99G>A	CCDS44987.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.460690	1	0.170000	NM_032814			6	6		26	26	1		1	0		0	0	9	0		9.701648e-01	4.705882e-02	0	0	0	2	0	6	26
FBXW8	26259	broad.mit.edu	37	12	117423069	117423069	+	Silent	SNP	C	C	T	rs138454816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117423069C>T	ENST00000309909.5	+	6	976	c.894C>T	c.(892-894)caC>caT	p.H298H	FBXW8_ENST00000551773.1_3'UTR|FBXW8_ENST00000455858.2_Silent_p.H232H|RP11-231I16.1_ENST00000548738.1_RNA			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	298					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)				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)		GTTTTGAGCACGATGCAAGAA	0.453													C|||	57	0.0113818	0.0386	0.0086	5008	,	,		17182	0.0		0.0	False		,,,				2504	0.0					ENST00000309909.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(892-894)caC>caT		F-box and WD repeat domain containing 8		C	,	157,4249	107.8+/-146.2	5,147,2051	139.0	123.0	129.0		696,894	-7.3	0.7	12	dbSNP_134	129	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	5,149,6349	TT,TC,CC		0.0233,3.5633,1.2225	,	232/533,298/599	117423069	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	26259	476	121412	59				g.chr12:117423069C>T	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.894C>T	chr12.hg19:g.117423069C>T		0					RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000551773.1_3'UTR|FBXW8_ENST00000455858.2_Silent_p.H232H	p.H298H			0	1	1	1.988890	Q8N3Y1	FBXW8_HUMAN		6	976	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		Q9UK95	Silent	SNP	ENST00000309909.5	1	0	hg19	c.894C>T	CCDS9182.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-2.404697	0	0.170000	NM_012174			48	48		193	190	1		1	1		0	0	44	0		1	9.920439e-01	0	10	0	23	0	48	193
TESC	54997	broad.mit.edu	37	12	117484630	117484630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117484630C>T	ENST00000335209.7	-	5	549	c.363G>A	c.(361-363)atG>atA	p.M121I	TESC_ENST00000541210.1_Missense_Mutation_p.M94I|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I			Q96BS2	CHP3_HUMAN	tescalcin	121	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)		CCGAGTCGTACATGTGGAACA	0.592																																						ENST00000335209.7	1.000000	0.910000	1	9.900000e-01	0.990000	0.994121	0.990000	1.000000																										0				6						c.(361-363)atG>atA		tescalcin							44.0	38.0	40.0					12																	117484630		2197	4288	6485	SO:0001583	missense	54997	0	0					g.chr12:117484630C>T	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.363G>A	chr12.hg19:g.117484630C>T	ENSP00000334785:p.Met121Ile	0					TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I|TESC_ENST00000535198.1_5'UTR	p.M121I			0	1	1	1.988890	Q96BS2	CHP3_HUMAN		5	549	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	0	1	hg19	c.363G>A	CCDS9183.3	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.492545|3.492545	0.64074|0.64074	.|.	.|.	ENSG00000088992|ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210|ENST00000549210	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.28709|.	0.093|.	T|T	0.56013|0.56013	-0.8049|-0.8049	10|5	0.45353|.	T|.	0.12|.	-25.979|-25.979	17.3511|17.3511	0.87324|0.87324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	121|.	Q96BS2|.	TESC_HUMAN|.	I|I	121;174;94|3	ENSP00000334785:M121I;ENSP00000376328:M174I;ENSP00000445689:M94I|.	ENSP00000334785:M121I|.	M|V	-|-	3|1	0|0	0|0	TESC|TESC	115969013|115969013	115969013|115969013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.485000|4.485000	0.60279|0.60279	2.434000|2.434000	0.82447|0.82447	0.555000|0.555000	0.69702|0.69702	ATG|GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-15.795540	1	0.170000	NM_017899			7	7		26	26	0		1	1		0	0	8	0		9.847605e-01	1	0	1154	0	1220	0	7	26
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000541210.1_Intron|TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Missense_Mutation_p.D121N			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																																						ENST00000335209.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.D121N(2)	large_intestine(1)|endometrium(1)	6						c.(202-204)Gac>Aac		tescalcin							150.0	116.0	127.0					12																	117494618		2203	4300	6503	SO:0001583	missense	54997	0	0					g.chr12:117494618C>T	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	chr12.hg19:g.117494618C>T	ENSP00000334785:p.Asp68Asn	0					TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron|TESC_ENST00000535198.1_5'Flank	p.D68N			0	1	1	1.988890	Q96BS2	CHP3_HUMAN		3	388	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	1	1	hg19	c.202G>A	CCDS9183.3	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	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	0	TESC	115979001	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	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_017899			59	58		309	304	1		1	1		0	0	69	0		1	1	0	1282	0	1262	0	59	309
FBXO21	23014	broad.mit.edu	37	12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000330622.5	-	10	1476	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	FBXO21_ENST00000427718.2_Missense_Mutation_p.R486C			O94952	FBX21_HUMAN	F-box protein 21	493					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)			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)		TCATCGGAGCGCAGCTTCACC	0.587																																					GBM(168;452 2038 13535 17701 43680)	ENST00000330622.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1477-1479)Cgc>Tgc		F-box protein 21							211.0	175.0	187.0					12																	117595739		2203	4300	6503	SO:0001583	missense	23014	0	0					g.chr12:117595739G>A	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.1477C>T	chr12.hg19:g.117595739G>A	ENSP00000328187:p.Arg493Cys	0					FBXO21_ENST00000427718.2_Missense_Mutation_p.R486C	p.R493C			0	1	1	1.988890	O94952	FBX21_HUMAN		10	1476	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	1	1	hg19	c.1477C>T	CCDS9184.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977439|4.977439	0.92982|0.92982	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.58652	.|0.45;0.32	5.02|5.02	5.02|5.02	0.67125|0.67125	5.02|5.02	5.02|5.02	0.67125|0.67125	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	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;1.0;0.999;1.0	.|P;P;P;D	.|0.66196	.|0.908;0.886;0.719;0.942	T|T	0.69705|0.69705	-0.5073|-0.5073	5|10	.|0.87932	.|D	.|0	-13.0067|-13.0067	18.5372|18.5372	0.91014|0.91014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;236;493;486	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	V|C	369|486;402;342;493;145	.|ENSP00000414468:R486C;ENSP00000328187:R493C	.|ENSP00000257563:R402C	A|R	-|-	2|1	0|0	0|0	FBXO21|FBXO21	116080122|116080122	116080122|116080122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.406000|7.406000	0.80017|0.80017	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	1	0	1		2	2	2	0		0	0	180		180	178	1	2.060000	-20.000000	1	0.170000	NM_033624			248	245		908	894	1		1	1		0	0	180	0		1	1	0	17	0	77	0	248	908
NOS1	4842	broad.mit.edu	37	12	117693744	117693744	+	Missense_Mutation	SNP	T	T	C	rs200604635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	ENST00000338101.4	-	16	2634	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			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)			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)		ACTCTACCTGTGCTGGCTGTC	0.582																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000338101.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(2629-2631)cAc>cGc		nitric oxide synthase 1 (neuronal)							113.0	102.0	105.0					12																	117693744		876	1991	2867	SO:0001583	missense	4842	11	116244	41				g.chr12:117693744T>C		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.2630A>G	chr12.hg19:g.117693744T>C	ENSP00000337459:p.His877Arg	0					NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron	p.H877R			0	1	1	1.988890	Q8WY41	NANO1_HUMAN		16	2634	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000338101.4	1	1	hg19	c.2630A>G	CCDS55890.1	1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013078	0.35511	.	.	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.58210	0.35	5.93	-0.753	0.11068	5.93	-0.753	0.11068	.	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.06445	-1.0826	7	0.15066	T	0.55	.	9.1619	0.37028	0.0:0.429:0.0:0.571	.	.	.	.	R	877;43	ENSP00000337459:H877R	ENSP00000337459:H877R	H	-	2	0	0	NOS1	116178127	116178127	0.966000	0.33281	0.995000	0.50966	0.993000	0.82548	-0.321000	0.08018	-0.116000	0.11893	-0.290000	0.09829	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-4.993325	1	0.170000				60	57		319	315	1		1			0	0	72	0		1	0	0	0	0	0	0	60	319
NOS1	4842	broad.mit.edu	37	12	117703293	117703293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	ENST00000338101.4	-	11	1968	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_ENST00000317775.6_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR			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)			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)		GGAGTGATGGTCAACAATGGT	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000338101.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.990566	0.990000	1.000000																										0				117						c.(1963-1965)gAc>gGc		nitric oxide synthase 1 (neuronal)							50.0	49.0	50.0					12																	117703293		2063	4244	6307	SO:0001583	missense	4842	0	0					g.chr12:117703293T>C		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.1964A>G	chr12.hg19:g.117703293T>C	ENSP00000337459:p.Asp655Gly	0					NOS1_ENST00000317775.6_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR	p.D655G			0	1	1	1.988890	Q8WY41	NANO1_HUMAN		11	1968	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000338101.4	0	1	hg19	c.1964A>G	CCDS55890.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834508	0.91036	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57595	0.39;0.39	5.37	5.37	0.77165	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-44.1366	15.5335	0.75983	0.0:0.0:0.0:1.0	.	655	P29475	NOS1_HUMAN	G	550;655;655;655	ENSP00000320758:D655G;ENSP00000337459:D655G	ENSP00000320758:D655G	D	-	2	0	0	NOS1	116187676	116187676	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.778000	0.85637	2.254000	0.74563	0.533000	0.62120	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-16.020560	1	0.170000				8	7		41	41	1		1			0	0	10	0		9.906799e-01	0	0	0	0	0	0	8	41
NOS1	4842	broad.mit.edu	37	12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000338101.4	-	1	365	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W|NOS1_ENST00000549189.1_5'Flank			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)			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)		TGTGTCACCCGGATGGTCTTG	0.647																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000338101.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(361-363)Cgg>Tgg		nitric oxide synthase 1 (neuronal)							34.0	38.0	37.0					12																	117768514		1903	4109	6012	SO:0001583	missense	4842	0	0					g.chr12:117768514G>A		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.361C>T	chr12.hg19:g.117768514G>A	ENSP00000337459:p.Arg121Trp	0					NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W|NOS1_ENST00000549189.1_5'Flank	p.R121W			0	1	1	1.988890	Q8WY41	NANO1_HUMAN		1	365	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000338101.4	1	1	hg19	c.361C>T	CCDS55890.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932481	0.73442	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.07114	4.86;3.22;4.84	4.8	4.8	0.61643	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.055578	0.64402	D	0.000001	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	T	0.01869	-1.1257	10	0.87932	D	0	-26.7802	18.0621	0.89380	0.0:0.0:1.0:0.0	.	121	P29475	NOS1_HUMAN	W	121	ENSP00000320758:R121W;ENSP00000339862:R121W;ENSP00000337459:R121W	ENSP00000320758:R121W	R	-	1	2	2	NOS1	116252897	116252897	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.255000	0.43222	2.492000	0.84095	0.555000	0.69702	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1		17	2	2	1		1	1	67		67	67	1	2.060000	-3.382497	1	0.170000				60	60		282	281	1		1			1	0	67	0		1	0	0	0	0	0	0	60	282
WSB2	55884	broad.mit.edu	37	12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000315436.3	-	6	861	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	240					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512																																						ENST00000315436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(718-720)agC>agA		WD repeat and SOCS box containing 2							179.0	158.0	165.0					12																	118474256		2203	4300	6503	SO:0001583	missense	55884	0	0					g.chr12:118474256G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.720C>A	chr12.hg19:g.118474256G>T	ENSP00000319474:p.Ser240Arg	0					WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R	p.S240R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	0	1	1	1.988890	Q9NYS7	WSB2_HUMAN		6	861	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	1	1	hg19	c.720C>A	CCDS9186.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467308	0.63625	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;4.9	5.66	4.78	0.61160	5.66	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085373	0.85682	D	0.000000	T	0.47728	0.1461	N	0.21240	0.645	0.48696	D	0.99969	B	0.30211	0.273	B	0.28709	0.093	T	0.41734	-0.9492	10	0.31617	T	0.26	-20.5	14.048	0.64716	0.0728:0.0:0.9272:0.0	.	240	Q9NYS7	WSB2_HUMAN	R	240;15;257;30;242;242	ENSP00000319474:S240R;ENSP00000445941:S15R;ENSP00000409131:S257R;ENSP00000444431:S30R;ENSP00000439450:S242R;ENSP00000440386:S242R	ENSP00000319474:S240R	S	-	3	2	2	WSB2	116958639	116958639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.032000	0.57274	1.395000	0.46643	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_018639			118	113		474	462	1		1	1		0	0	118	0		1	1	0	125	0	318	0	118	474
WSB2	55884	broad.mit.edu	37	12	118480730	118480730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000315436.3	-	4	616	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	159					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557																																						ENST00000315436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(475-477)Ctg>Atg		WD repeat and SOCS box containing 2							112.0	110.0	110.0					12																	118480730		2203	4300	6503	SO:0001583	missense	55884	0	0					g.chr12:118480730G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.475C>A	chr12.hg19:g.118480730G>T	ENSP00000319474:p.Leu159Met	0					WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000544233.1_Intron	p.L159M	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	0	1	1	1.988890	Q9NYS7	WSB2_HUMAN		4	616	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	1	0	hg19	c.475C>A	CCDS9186.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190714	0.78789	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.75	2.72	0.32119	5.75	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144057	0.48286	D	0.000191	T	0.62841	0.2461	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.59289	-0.7482	10	0.49607	T	0.09	-8.686	5.8458	0.18665	0.2445:0.137:0.6186:0.0	.	159	Q9NYS7	WSB2_HUMAN	M	159;176;161;161	ENSP00000319474:L159M;ENSP00000409131:L176M;ENSP00000439450:L161M;ENSP00000440386:L161M	ENSP00000319474:L159M	L	-	1	2	2	WSB2	116965113	116965113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.339000	0.43965	0.283000	0.22279	0.644000	0.83932	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_018639			99	95		444	439	1		1	1		0	0	105	0		1	1	0	165	0	324	0	99	444
SUDS3	64426	broad.mit.edu	37	12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	148	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|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)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398																																						ENST00000543473.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(442-444)gaG>gaT		suppressor of defective silencing 3 homolog (S. cerevisiae)							95.0	96.0	95.0					12																	118829014		1837	4083	5920	SO:0001583	missense	64426	2	120800	29				g.chr12:118829014G>T	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.444G>T	chr12.hg19:g.118829014G>T	ENSP00000443988:p.Glu148Asp	0					SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	p.E148D	NM_022491.2	NP_071936.2	0	1	1	1.988890	Q9H7L9	SDS3_HUMAN		6	756	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	1	1	hg19	c.444G>T	CCDS44993.1	1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490703	0.12702	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.28608	0.87	0.58432	D	0.999995	D	0.57257	0.979	D	0.74023	0.982	T	0.48570	-0.9024	9	0.11794	T	0.64	-18.0549	6.5366	0.22357	0.2101:0.0:0.7899:0.0	.	148	Q9H7L9	SDS3_HUMAN	D	148;149	.	ENSP00000380695:E149D	E	+	3	2	2	SUDS3	117313397	117313397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.830000	0.48136	2.677000	0.91161	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	0	0	1		18	5	2	1		1	1	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_022491			87	86		402	385	1		1	1		1	0	91	0		1	9.993542e-01	0	24	0	61	0	87	402
SRRM4	84530	broad.mit.edu	37	12	119559878	119559878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373																																						ENST00000267260.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				24						c.(466-468)tcC>tcT		serine/arginine repetitive matrix 4							117.0	109.0	112.0					12																	119559878		1854	4095	5949	SO:0001819	synonymous_variant	84530	0	0					g.chr12:119559878C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.468C>T	chr12.hg19:g.119559878C>T		0						p.S156S	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		6	856	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	1	1	hg19	c.468C>T	CCDS44994.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-2.851152	1	0.170000	NM_194286			36	36		207	199	1		1			0	0	58	0		1	0	0	0	0	0	0	36	207
SRRM4	84530	broad.mit.edu	37	12	119568492	119568492	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	208	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632																																						ENST00000267260.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				24						c.(622-624)ggC>ggT		serine/arginine repetitive matrix 4							16.0	20.0	18.0					12																	119568492		1888	4099	5987	SO:0001819	synonymous_variant	84530	0	0					g.chr12:119568492C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.624C>T	chr12.hg19:g.119568492C>T		0					SRRM4_ENST00000537597.1_3'UTR	p.G208G	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		8	1012	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	1	1	hg19	c.624C>T	CCDS44994.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_194286			27	27		101	100	1		1			0	0	18	0		1	0	0	0	0	0	0	27	101
SRRM4	84530	broad.mit.edu	37	12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	241	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647																																						ENST00000267260.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(721-723)cCg>cTg		serine/arginine repetitive matrix 4							24.0	30.0	28.0					12																	119568590		1940	4136	6076	SO:0001583	missense	84530	1	120880	25				g.chr12:119568590C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.722C>T	chr12.hg19:g.119568590C>T	ENSP00000267260:p.Pro241Leu	0					SRRM4_ENST00000537597.1_3'UTR	p.P241L	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		8	1110	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	1	1	hg19	c.722C>T	CCDS44994.1	1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130604	0.08981	.	.	ENSG00000139767	ENST00000267260	T	0.21191	2.02	4.68	-1.97	0.07503	4.68	-1.97	0.07503	.	0.607362	0.17342	N	0.177731	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.11182	T	0.66	-0.0964	0.4273	0.00465	0.2622:0.2692:0.1288:0.3398	.	241	A7MD48	SRRM4_HUMAN	L	241	ENSP00000267260:P241L	ENSP00000267260:P241L	P	+	2	0	0	SRRM4	118052973	118052973	0.000000	0.05858	0.053000	0.19242	0.065000	0.16274	0.005000	0.13129	-0.299000	0.08909	-0.480000	0.04831	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-4.062525	1	0.170000	NM_194286			29	29		97	94	1		1			0	0	28	0		1	0	0	0	0	0	0	29	97
SRRM4	84530	broad.mit.edu	37	12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	249	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622																																						ENST00000267260.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				24						c.(745-747)Ctt>Att		serine/arginine repetitive matrix 4							26.0	31.0	29.0					12																	119568613		1957	4144	6101	SO:0001583	missense	84530	0	0					g.chr12:119568613C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.745C>A	chr12.hg19:g.119568613C>A	ENSP00000267260:p.Leu249Ile	0					SRRM4_ENST00000537597.1_3'UTR	p.L249I	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		8	1133	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	1	1	hg19	c.745C>A	CCDS44994.1	1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748443	0.49257	.	.	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.21	4.2	0.49525	5.21	4.2	0.49525	.	0.579646	0.17230	N	0.181976	T	0.18299	0.0439	L	0.44542	1.39	0.24740	N	0.993043	B	0.29085	0.232	B	0.25759	0.063	T	0.09773	-1.0659	10	0.19590	T	0.45	-10.4697	7.4408	0.27181	0.0:0.7997:0.0:0.2003	.	249	A7MD48	SRRM4_HUMAN	I	249	ENSP00000267260:L249I	ENSP00000267260:L249I	L	+	1	0	0	SRRM4	118052996	118052996	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	2.194000	0.42668	2.445000	0.82738	0.448000	0.29417	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_194286			26	24		92	89	1		1			0	0	28	0		1	0	0	0	0	0	0	26	92
SRRM4	84530	broad.mit.edu	37	12	119592113	119592113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592113G>T	ENST00000267260.4	+	12	1845	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	486	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCGCGTCGGAGACGTCGGTCC	0.682																																						ENST00000267260.4	1.000000	0.250000	8.400000e-01	3.900000e-01	0.590000	0.615832	0.590000	1.000000																										0				24						c.(1456-1458)aGa>aTa		serine/arginine repetitive matrix 4							16.0	21.0	19.0					12																	119592113		1855	4092	5947	SO:0001583	missense	84530	0	0					g.chr12:119592113G>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1457G>T	chr12.hg19:g.119592113G>T	ENSP00000267260:p.Arg486Ile	0						p.R486I	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		12	1845	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	0	1	hg19	c.1457G>T	CCDS44994.1	0	.	.	.	.	.	.	.	.	.	.	G	37	5.986015	0.97173	.	.	ENSG00000139767	ENST00000267260	T	0.66995	-0.24	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78163	-0.2311	9	.	.	.	-21.8605	19.2685	0.93998	0.0:0.0:1.0:0.0	.	486	A7MD48	SRRM4_HUMAN	I	486	ENSP00000267260:R486I	.	R	+	2	0	0	SRRM4	118076496	118076496	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	7.268000	0.78473	2.562000	0.86427	0.655000	0.94253	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	0	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-10.206780	1	0.170000	NM_194286			6	6		118	116	0		1			0	0	21	0		9.644131e-01	0	0	0	0	0	0	6	118
SRRM4	84530	broad.mit.edu	37	12	119592129	119592129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	491	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667																																						ENST00000267260.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999918	0.990000	1.000000																										0				24						c.(1471-1473)tcG>tcA		serine/arginine repetitive matrix 4							17.0	21.0	20.0					12																	119592129		1856	4093	5949	SO:0001819	synonymous_variant	84530	0	0					g.chr12:119592129G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1473G>A	chr12.hg19:g.119592129G>A		0						p.S491S	NM_194286.3	NP_919262.2	0	1	1	1.988890	A7MD48	SRRM4_HUMAN		12	1861	+			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	1	1	hg19	c.1473G>A	CCDS44994.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_194286			22	22		101	99	1		1			0	0	23	0		9.999993e-01	0	0	0	0	0	0	22	101
HSPB8	26353	broad.mit.edu	37	12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507																																						ENST00000281938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(580-582)aCc>aTc		heat shock 22kDa protein 8							90.0	84.0	86.0					12																	119631653		2203	4300	6503	SO:0001583	missense	26353	1	121412	34				g.chr12:119631653C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.581C>T	chr12.hg19:g.119631653C>T	ENSP00000281938:p.Thr194Ile	0						p.T194I	NM_014365.2	NP_055180.1	0	1	1	1.988890	Q9UJY1	HSPB8_HUMAN		3	1252	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	1	1	hg19	c.581C>T	CCDS9189.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000152137	ENST00000281938	D	0.87571	-2.27	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.430101	0.24933	N	0.034450	T	0.80929	0.4718	N	0.24115	0.695	0.35132	D	0.768082	D	0.60160	0.987	P	0.47118	0.538	D	0.83617	0.0137	9	.	.	.	.	11.9741	0.53081	0.0:0.8241:0.1759:0.0	.	194	Q9UJY1	HSPB8_HUMAN	I	194	ENSP00000281938:T194I	.	T	+	2	0	0	HSPB8	118116036	118116036	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.887000	0.48586	2.396000	0.81511	0.561000	0.74099	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_014365			67	67		279	276	1		1	0		0	0	83	0		1	9.999997e-01	0	0	0	94	0	67	279
CCDC60	160777	broad.mit.edu	37	12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A	rs202167769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	106										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)		ATCTCAGAAATCCACTATGGG	0.448																																						ENST00000327554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(316-318)aTc>aAc		coiled-coil domain containing 60							172.0	177.0	175.0					12																	119909945		2203	4300	6503	SO:0001583	missense	160777	0	0					g.chr12:119909945T>A	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.317T>A	chr12.hg19:g.119909945T>A	ENSP00000333374:p.Ile106Asn	0					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.I106N	NM_178499.3	NP_848594.2	0	1	1	1.988890	Q8IWA6	CCD60_HUMAN		3	782	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000327554.2	1	1	hg19	c.317T>A	CCDS9190.1	1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097657	0.56075	.	.	ENSG00000183273	ENST00000327554	T	0.26223	1.75	5.22	2.75	0.32379	5.22	2.75	0.32379	.	0.606715	0.15846	N	0.241777	T	0.28863	0.0716	M	0.63428	1.95	0.09310	N	1	P	0.49559	0.925	P	0.48840	0.592	T	0.14504	-1.0470	9	.	.	.	-13.3902	3.3754	0.07235	0.2556:0.111:0.0:0.6334	.	106	Q8IWA6	CCD60_HUMAN	N	106	ENSP00000333374:I106N	.	I	+	2	0	0	CCDC60	118394328	118394328	0.001000	0.12720	0.063000	0.19743	0.130000	0.20726	0.454000	0.21827	0.837000	0.34925	0.334000	0.21626	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1		2	2	2	0		0	0	246		246	240	1	2.060000	-20.000000	1	0.170000	NM_178499			224	213		934	907	1		1			0	0	246	0		1	0	0	0	0	0	0	224	934
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		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)		GTCACACGTCGCCCATTCACT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000327554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.R131H(3)	lung(2)|ovary(1)	40						c.(391-393)cGc>cAc		coiled-coil domain containing 60		G	HIS/ARG	0,4406		0,0,2203	224.0	171.0	189.0		392	2.6	0.0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	SO:0001583	missense	160777	5	121412	38				g.chr12:119916949G>A	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.392G>A	chr12.hg19:g.119916949G>A	ENSP00000333374:p.Arg131His	0					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.R131H	NM_178499.3	NP_848594.2	0	1	1	1.988890	Q8IWA6	CCD60_HUMAN		4	857	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000327554.2	1	1	hg19	c.392G>A	CCDS9190.1	1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	0	CCDC60	118401332	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.418453	1	0.170000	NM_178499			53	52		242	233	1		1			0	0	53	0		1	0	0	0	0	0	0	53	242
CCDC60	160777	broad.mit.edu	37	12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	336										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)		AGTAATTCTGCTTATAAGGAA	0.473																																						ENST00000327554.2	1.000000	0.810000	1	9.000000e-01	0.990000	0.966840	0.990000	1.000000																										0				40						c.(1006-1008)gCt>gTt		coiled-coil domain containing 60							169.0	165.0	166.0					12																	119957964		2203	4300	6503	SO:0001583	missense	160777	0	0					g.chr12:119957964C>T	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.1007C>T	chr12.hg19:g.119957964C>T	ENSP00000333374:p.Ala336Val	0					RP11-768F21.1_ENST00000509470.2_lincRNA	p.A336V	NM_178499.3	NP_848594.2	0	1	1	1.988890	Q8IWA6	CCD60_HUMAN		9	1472	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Missense_Mutation	SNP	ENST00000327554.2	1	1	hg19	c.1007C>T	CCDS9190.1	1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171345	0.06421	.	.	ENSG00000183273	ENST00000327554	T	0.22743	1.94	3.75	-0.352	0.12598	3.75	-0.352	0.12598	.	1.142040	0.06595	N	0.752738	T	0.15739	0.0379	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.24269	0.052	T	0.33420	-0.9869	9	.	.	.	-0.9919	3.5628	0.07889	0.0:0.4639:0.1939:0.3421	.	336	Q8IWA6	CCD60_HUMAN	V	336	ENSP00000333374:A336V	.	A	+	2	0	0	CCDC60	118442347	118442347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.063000	0.13065	-0.150000	0.13652	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1		2	2	2	0		0	0	194		194	193	1	2.060000	-18.888810	1	0.170000	NM_178499			79	75		831	816	0		1			0	0	194	0		1	0	0	0	0	0	0	79	831
CCDC60	160777	broad.mit.edu	37	12	119961570	119961570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	392										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)		AGTTTTACAGCGTAGCCCAGG	0.483																																						ENST00000327554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1174-1176)agC>agT		coiled-coil domain containing 60							109.0	89.0	96.0					12																	119961570		2203	4300	6503	SO:0001819	synonymous_variant	160777	2	121412	33				g.chr12:119961570C>T	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.1176C>T	chr12.hg19:g.119961570C>T		0					RP11-768F21.1_ENST00000509470.2_lincRNA	p.S392S	NM_178499.3	NP_848594.2	0	1	1	1.988890	Q8IWA6	CCD60_HUMAN		11	1641	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Silent	SNP	ENST00000327554.2	1	1	hg19	c.1176C>T	CCDS9190.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_178499			51	51		186	185	1		1			0	0	54	0		1	0	0	0	0	0	0	51	186
PRKAB1	5564	broad.mit.edu	37	12	120114475	120114475	+	Splice_Site	SNP	C	C	T	rs146667625	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666C>T	c.(664-666)tcC>tcT	p.S222S	PRKAB1_ENST00000540121.1_Splice_Site_p.S56S|PRKAB1_ENST00000541640.1_Splice_Site_p.S222S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	222					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)			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)	CGGGGATTTCCGTAAGTATGT	0.572																																						ENST00000229328.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(664-666)tcC>tcT		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	C		0,4406		0,0,2203	109.0	100.0	103.0		666	-11.0	0.2	12	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	PRKAB1	NM_006253.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		222/271	120114475	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	5564	30	121412	45				g.chr12:120114475C>T	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.666+1C>T	chr12.hg19:g.120114475C>T		0					PRKAB1_ENST00000541640.1_Splice_Site_p.S222S|PRKAB1_ENST00000540121.1_Splice_Site_p.S56S	p.S222S	NM_006253.4	NP_006244.2	0	1	1	1.988890	Q9Y478	AAKB1_HUMAN		5	1158	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Splice_Site	SNP	ENST00000229328.5	1	0	hg19	c.666C>T	CCDS9191.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.073824	1	0.170000	NM_006253	Silent		44	43		171	168	1		1	1		0	0	74	0		1	1	0	48	0	224	0	44	171
CIT	11113	broad.mit.edu	37	12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000261833.7	-	44	5612	c.5560G>A	c.(5560-5562)Gca>Aca	p.A1854T	CIT_ENST00000392521.2_Missense_Mutation_p.A1896T|CIT_ENST00000537607.1_5'UTR|RP1-127H14.3_ENST00000535109.1_5'Flank	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1854	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)		GAGGAGCGTGCCTGGATCTCA	0.532																																						ENST00000261833.7	1.000000	0.760000	1	8.400000e-01	0.940000	0.930768	0.940000	1.000000																										0				86						c.(5560-5562)Gca>Aca		citron rho-interacting serine/threonine kinase							231.0	209.0	217.0					12																	120135797		2203	4300	6503	SO:0001583	missense	11113	0	0					g.chr12:120135797C>T	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.5560G>A	chr12.hg19:g.120135797C>T	ENSP00000261833:p.Ala1854Thr	0					CIT_ENST00000537607.1_5'UTR|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000392521.2_Missense_Mutation_p.A1896T	p.A1854T	NM_007174.2	NP_009105.1	0	1	1	1.988890	O14578	CTRO_HUMAN		44	5612	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	1	1	hg19	c.5560G>A	CCDS9192.1	1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636663	0.67130	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.03689	3.84;3.84	5.34	5.34	0.76211	5.34	5.34	0.76211	Citron-like (3);	0.133331	0.49305	D	0.000142	T	0.05227	0.0139	L	0.29908	0.895	0.50813	D	0.999892	P;B;B	0.35793	0.521;0.149;0.013	B;B;B	0.38378	0.272;0.098;0.031	T	0.55276	-0.8166	10	0.29301	T	0.29	.	19.4207	0.94720	0.0:1.0:0.0:0.0	.	1896;1854;1372	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1896;1854	ENSP00000376306:A1896T;ENSP00000261833:A1854T	ENSP00000261833:A1854T	A	-	1	0	0	CIT	118620180	118620180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.649000	0.54417	2.653000	0.90120	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	1		2	2	2	0		0	0	206		206	202	1	2.060000	-18.118270	1	0.170000	NM_007174			84	83		956	941	0		1	1		0	0	206	0		1	2.246916e-01	0	3	0	8	0	84	956
CIT	11113	broad.mit.edu	37	12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000261833.7	-	41	5256	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	CIT_ENST00000392521.2_Missense_Mutation_p.S1777N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1735	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)		GTGGATACAGCTGCAGGGCTC	0.498																																						ENST00000261833.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(5203-5205)aGc>aAc		citron rho-interacting serine/threonine kinase							144.0	138.0	140.0					12																	120139738		2203	4300	6503	SO:0001583	missense	11113	0	0					g.chr12:120139738C>T	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.5204G>A	chr12.hg19:g.120139738C>T	ENSP00000261833:p.Ser1735Asn	0					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.S1777N	p.S1735N	NM_007174.2	NP_009105.1	0	1	1	1.988890	O14578	CTRO_HUMAN		41	5256	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	1	1	hg19	c.5204G>A	CCDS9192.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632957|4.632957	0.87660|0.87660	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05258	.|3.47;3.47	5.68|5.68	5.68|5.68	0.88126|0.88126	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.991;0.708	.|D;D;B	.|0.83275	.|0.996;0.988;0.425	T|T	0.00250|0.00250	-1.1878|-1.1878	5|10	.|0.34782	.|T	.|0.22	.|.	19.7849|19.7849	0.96432|0.96432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|N	1348|1777;1735	.|ENSP00000376306:S1777N;ENSP00000261833:S1735N	.|ENSP00000261833:S1735N	A|S	-|-	1|2	0|0	0|0	CIT|CIT	118624121|118624121	118624121|118624121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_007174			123	121		430	419	1		1	1		0	0	98	0		1	9.624678e-01	0	5	0	16	0	123	430
CIT	11113	broad.mit.edu	37	12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000261833.7	-	26	3356	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	CIT_ENST00000392521.2_Missense_Mutation_p.A1144T|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1102	Interaction with Rho/Rac.				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)			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)		TGCTGCAGAGCGAGAATCTCA	0.562																																						ENST00000261833.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(3304-3306)Gct>Act		citron rho-interacting serine/threonine kinase		C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	57.0	52.0	54.0		3430,3304	5.4	0.7	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	58,58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1144/2070,1102/2028	120168356	3,13003	2203	4300	6503	SO:0001583	missense	11113	5	121412	38				g.chr12:120168356C>T	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.3304G>A	chr12.hg19:g.120168356C>T	ENSP00000261833:p.Ala1102Thr	0					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A1144T	p.A1102T	NM_007174.2	NP_009105.1	0	1	1	1.988890	O14578	CTRO_HUMAN		26	3356	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	1	1	hg19	c.3304G>A	CCDS9192.1	1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437072	0.62955	4.54E-4	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.65549	-0.1;-0.16;1.56	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.983;0.494	B;B;B	0.42882	0.401;0.204;0.056	T	0.49835	-0.8897	10	0.25106	T	0.35	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1144;1102;635	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1144;1102;144	ENSP00000376306:A1144T;ENSP00000261833:A1102T;ENSP00000446105:A144T	ENSP00000261833:A1102T	A	-	1	0	0	CIT	118652739	118652739	1.000000	0.71417	0.675000	0.29917	0.574000	0.36063	6.026000	0.70873	2.550000	0.86006	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.744527	1	0.170000	NM_007174			42	42		151	151	1		1	1		0	0	38	0		1	6.732679e-01	0	3	0	7	0	42	151
ETV6	2120	broad.mit.edu	37	12	12022779	12022779	+	Silent	SNP	C	C	T	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	295					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)		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)				TCTCCGAGGACGGGCTGCATA	0.592			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"""																																	ENST00000396373.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		12	12p13	12p13	2120	T	ets variant gene 6 (TEL oncogene)				"""L, E, M"""	L, E, M	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	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				45						c.(883-885)gaC>gaT		ets variant 6		C		0,4406		0,0,2203	90.0	90.0	90.0		885	2.4	1.0	12	dbSNP_134	90	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	ETV6	NM_001987.4		0,10,6493	TT,TC,CC		0.1163,0.0,0.0769		295/453	12022779	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	2120	81	121410	52				g.chr12:12022779C>T	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.885C>T	chr12.hg19:g.12022779C>T		0						p.D295D	NM_001987.4	NP_001978.1	1	2	3	2.002308	P41212	ETV6_HUMAN		5	1159	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	1	1	hg19	c.885C>T	CCDS8643.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-8.108521	1	0.170000	NM_001987			80	81		524	515	0		1	1		0	0	107	0		1	9.999354e-01	0	22	0	70	0	80	524
CIT	11113	broad.mit.edu	37	12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000261833.7	-	21	2544	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	CIT_ENST00000392521.2_Missense_Mutation_p.R873Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	831					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)			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)		CTCCAGTTTTCGGTTCTGGGC	0.542																																						ENST00000261833.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(2491-2493)cGa>cAa		citron rho-interacting serine/threonine kinase							182.0	172.0	175.0					12																	120195263		2203	4300	6503	SO:0001583	missense	11113	1	121412	29				g.chr12:120195263C>T	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.2492G>A	chr12.hg19:g.120195263C>T	ENSP00000261833:p.Arg831Gln	0					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R873Q	p.R831Q	NM_007174.2	NP_009105.1	0	1	1	1.988890	O14578	CTRO_HUMAN		21	2544	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	1	1	hg19	c.2492G>A	CCDS9192.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.266140|2.266140	0.40095|0.40095	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65549	.|-0.09;-0.16	5.54|5.54	4.65|4.65	0.58169|0.58169	5.54|5.54	4.65|4.65	0.58169|0.58169	.|.	.|0.334286	.|0.29444	.|N	.|0.012140	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.03608|0.03608	-0.345|-0.345	0.34945|0.34945	D|D	0.750651|0.750651	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.13853	.|T	.|0.58	.|.	8.5349|8.5349	0.33357|0.33357	0.0:0.7713:0.0:0.2287|0.0:0.7713:0.0:0.2287	.|.	.|873;831;364	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	459|873;831	.|ENSP00000376306:R873Q;ENSP00000261833:R831Q	.|ENSP00000261833:R831Q	E|R	-|-	1|2	0|0	0|0	CIT|CIT	118679646|118679646	118679646|118679646	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	3.232000|3.232000	0.51302|0.51302	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	0	1		2	2	2	1		1	0	211		211	210	1	2.060000	-20.000000	1	0.170000	NM_007174			264	258		1015	991	1		1	0		1	0	211	0		1	1.916711e-01	0	0	0	4	0	264	1015
CCDC64	92558	broad.mit.edu	37	12	120436420	120436420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	175					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)			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)					GTGATGTGAAGCAGCTACAGG	0.517																																						ENST00000397558.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(523-525)aaG>aaA		coiled-coil domain containing 64							78.0	85.0	83.0					12																	120436420		2036	4193	6229	SO:0001819	synonymous_variant	92558	0	0					g.chr12:120436420G>A	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.525G>A	chr12.hg19:g.120436420G>A		0						p.K175K	NM_207311.2	NP_997194.2	0	1	1	1.988890	Q6ZP65	BICR1_HUMAN		2	525	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	1	1	hg19	c.525G>A	CCDS41845.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_207311			63	61		261	253	1		1	1		0	0	70	0		1	9.999999e-01	0	51	0	51	0	63	261
CCDC64	92558	broad.mit.edu	37	12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	263					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)			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)					AGATCGGAAACGGGAGCTGGA	0.567																																						ENST00000397558.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(787-789)Cgg>Tgg		coiled-coil domain containing 64							106.0	109.0	108.0					12																	120502561		1967	4143	6110	SO:0001583	missense	92558	5	120910	40				g.chr12:120502561C>T	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.787C>T	chr12.hg19:g.120502561C>T	ENSP00000380690:p.Arg263Trp	0					CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	p.R263W	NM_207311.2	NP_997194.2	0	1	1	1.988890	Q6ZP65	BICR1_HUMAN		4	787	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	1	1	hg19	c.787C>T	CCDS41845.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584929	0.86748	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.78924	-1.22;1.4	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.295893	0.32258	N	0.006347	T	0.80747	0.4682	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.52514	0.653;0.701	T	0.82396	-0.0478	10	0.66056	D	0.02	-16.1118	19.4454	0.94844	0.0:1.0:0.0:0.0	.	7;263	B4DNE7;Q6ZP65	.;BICR1_HUMAN	W	244;263;7	ENSP00000380690:R263W;ENSP00000399658:R7W	ENSP00000349605:R244W	R	+	1	2	2	CCDC64	118986944	118986944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	2.586000	0.87340	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-20.000000	1	0.170000	NM_207311			120	118		518	514	1		1	1		0	0	131	0		1	9.991270e-01	0	14	0	33	0	120	518
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612																																						ENST00000300648.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				94						c.(7597-7599)ggC>ggT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57.0	60.0	59.0					12																	120568522		1956	4133	6089	SO:0001819	synonymous_variant	10985	0	0					g.chr12:120568522G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>T	chr12.hg19:g.120568522G>A		0						p.G2533G	NM_006836.1	NP_006827	0	1	1	1.988890	Q92616	GCN1L_HUMAN		56	7611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	1	1	hg19	c.7599C>T	CCDS41847.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	1	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				35	34		209	208	1		1	1		0	0	71	0		1	1	0	13	0	164	0	35	209
GCN1L1	10985	broad.mit.edu	37	12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	794					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527																																						ENST00000300648.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(2380-2382)cGa>cAa		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							236.0	231.0	233.0					12																	120599349		2116	4240	6356	SO:0001583	missense	10985	0	0					g.chr12:120599349C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2381G>A	chr12.hg19:g.120599349C>T	ENSP00000300648:p.Arg794Gln	0						p.R794Q	NM_006836.1	NP_006827	0	1	1	1.988890	Q92616	GCN1L_HUMAN		22	2393	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	1	1	hg19	c.2381G>A	CCDS41847.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.843875	0.97016	.	.	ENSG00000089154	ENST00000300648	T	0.51071	0.72	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68762	-0.5323	10	0.41790	T	0.15	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	794	Q92616	GCN1L_HUMAN	Q	794	ENSP00000300648:R794Q	ENSP00000300648:R794Q	R	-	2	0	0	GCN1L1	119083732	119083732	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.232000	0.78116	2.767000	0.95098	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	0	0	0		2	2	2	0		0	0	131		131	128	1	2.060000	-2.747091	1	0.170000				111	109		520	512	1		1	1		0	0	131	0		1	9.999987e-01	0	3	0	88	0	111	520
GCN1L1	10985	broad.mit.edu	37	12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	603					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607																																						ENST00000300648.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(1807-1809)Gga>Tga		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							91.0	95.0	94.0					12																	120602181		1963	4158	6121	SO:0001587	stop_gained	10985	0	0					g.chr12:120602181C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1807G>T	chr12.hg19:g.120602181C>A	ENSP00000300648:p.Gly603*	0						p.G603*	NM_006836.1	NP_006827	0	1	1	1.988890	Q92616	GCN1L_HUMAN		18	1819	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Nonsense_Mutation	SNP	ENST00000300648.6	0	1	hg19	c.1807G>T	CCDS41847.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.103971	0.98066	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	603	.	ENSP00000300648:G603X	G	-	1	0	0	GCN1L1	119086564	119086564	1.000000	0.71417	0.733000	0.30861	0.934000	0.57294	7.232000	0.78116	2.769000	0.95229	0.655000	0.94253	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	0	0	1		2	2	2	0		0	0	174		174	172	1	2.060000	-2.808125	1	0.170000				115	114		607	591	1		1	1		0	0	174	0		1	9.989474e-01	0	5	0	50	0	115	607
PXN	5829	broad.mit.edu	37	12	120650126	120650126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000228307.7	-	12	1908	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000536957.1_Silent_p.L587L|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Silent_p.L401L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	589	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587																																						ENST00000228307.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1765-1767)ctC>ctT		paxillin							66.0	75.0	72.0					12																	120650126		2101	4216	6317	SO:0001819	synonymous_variant	5829	0	0					g.chr12:120650126G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1767C>T	chr12.hg19:g.120650126G>A		0					PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000397506.3_Silent_p.L401L|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000538144.1_5'UTR	p.L589L	NM_001080855.2	NP_001074324.1	0	1	1	1.988890	P49023	PAXI_HUMAN		12	1908	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	1	1	hg19	c.1767C>T	CCDS44997.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_002859			35	35		119	117	1		1	1		0	0	31	0		1	1	0	125	0	254	0	35	119
PXN	5829	broad.mit.edu	37	12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000228307.7	-	4	601	c.460G>A	c.(460-462)Gct>Act	p.A154T	PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000536957.1_Missense_Mutation_p.A152T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	154					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGTACAGCGTTCAGTTCC	0.612																																						ENST00000228307.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(460-462)Gct>Act		paxillin							82.0	84.0	83.0					12																	120660699		2012	4186	6198	SO:0001583	missense	5829	6	120966	39				g.chr12:120660699C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.460G>A	chr12.hg19:g.120660699C>T	ENSP00000228307:p.Ala154Thr	0					PXN_ENST00000536957.1_Missense_Mutation_p.A152T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000538144.1_5'UTR	p.A154T	NM_001080855.2	NP_001074324.1	0	1	1	1.988890	P49023	PAXI_HUMAN		4	601	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	1	1	hg19	c.460G>A	CCDS44997.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790286	0.70337	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.73799	-0.3869	10	0.17369	T	0.5	-8.7967	18.7469	0.91797	0.0:1.0:0.0:0.0	.	154;154;154	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	T	21;154;154;152;154;155;21;21;21	ENSP00000395536:A21T;ENSP00000228307:A154T;ENSP00000391283:A154T;ENSP00000443887:A152T;ENSP00000267257:A154T;ENSP00000443745:A155T;ENSP00000447180:A21T;ENSP00000446607:A21T;ENSP00000446650:A21T	ENSP00000228307:A154T	A	-	1	0	0	PXN	119145082	119145082	1.000000	0.71417	0.524000	0.27887	0.323000	0.28346	4.467000	0.60155	2.442000	0.82660	0.591000	0.81541	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.999630	1	0.170000	NM_002859			37	37		150	146	1		1	1		0	0	27	0		1	1	0	102	0	268	0	37	150
MSI1	4440	broad.mit.edu	37	12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	361					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572																																						ENST00000257552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1081-1083)tAc>tCc		musashi RNA-binding protein 1							119.0	111.0	114.0					12																	120783401		2203	4300	6503	SO:0001583	missense	4440	0	0					g.chr12:120783401T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.1082A>C	chr12.hg19:g.120783401T>G	ENSP00000257552:p.Tyr361Ser	0						p.Y361S	NM_002442.3	NP_002433.1	0	1	1	1.988890	O43347	MSI1H_HUMAN		14	1170	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	1	1	hg19	c.1082A>C	CCDS9196.1	1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868890	0.72065	.	.	ENSG00000135097	ENST00000257552	T	0.39229	1.09	4.72	2.24	0.28232	4.72	2.24	0.28232	.	0.000000	0.56097	D	0.000027	T	0.58409	0.2120	M	0.68952	2.095	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	.	9.8364	0.40971	0.2735:0.0:0.0:0.7265	.	361	O43347	MSI1H_HUMAN	S	361	ENSP00000257552:Y361S	ENSP00000257552:Y361S	Y	-	2	0	0	MSI1	119267784	119267784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	0.276000	0.22118	0.454000	0.30748	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	0	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_002442			90	90		508	498	1		1	0		0	0	128	0		1	0	0	0	0	1	0	90	508
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				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)			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)					CGTTATAATCGCAAACGTGAA	0.418																																						ENST00000325954.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(193-195)cGc>cAc		ring finger protein 10							114.0	114.0	114.0					12																	120984244		2203	4300	6503	SO:0001583	missense	9921	3	121412	38				g.chr12:120984244G>A	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.194G>A	chr12.hg19:g.120984244G>A	ENSP00000322242:p.Arg65His	0					RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	p.R65H	NM_014868.4	NP_055683.3	0	1	1	1.988890	Q8N5U6	RNF10_HUMAN		2	655	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	1	1	hg19	c.194G>A	CCDS9201.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.322463	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.91295	-2.8;-2.82	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95555	0.8624	10	0.62326	D	0.03	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	65	Q8N5U6	RNF10_HUMAN	H	65;65;65;15	ENSP00000322242:R65H;ENSP00000415682:R65H	ENSP00000322242:R65H	R	+	2	0	0	RNF10	119468627	119468627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	2.479000	0.83701	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4	0	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.696009	1	0.170000				99	96		389	381	1		1	1		0	0	94	0		1	1	0	47	0	180	0	99	389
ACADS	35	broad.mit.edu	37	12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	194					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)			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)	GAGGCTTCGGCTGCCGTGGTC	0.617																																						ENST00000242592.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(580-582)gCt>gTt		acyl-CoA dehydrogenase, C-2 to C-3 short chain	Flavin adenine dinucleotide(DB03147)						56.0	57.0	57.0					12																	121175748		2203	4300	6503	SO:0001583	missense	35	0	0					g.chr12:121175748C>T	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.581C>T	chr12.hg19:g.121175748C>T	ENSP00000242592:p.Ala194Val	0					RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Intron	p.A194V	NM_000017.2	NP_000008.1	0	1	1	1.988890	P16219	ACADS_HUMAN		5	732	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	P78331	Missense_Mutation	SNP	ENST00000242592.4	1	1	hg19	c.581C>T	CCDS9207.1	1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429904	0.62844	.	.	ENSG00000122971	ENST00000242592	D	0.94828	-3.53	4.95	4.95	0.65309	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	N	0.02266	-0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.80852	-0.1197	10	0.05959	T	0.93	.	18.1749	0.89758	0.0:1.0:0.0:0.0	.	194;194	E5KSD5;P16219	.;ACADS_HUMAN	V	194	ENSP00000242592:A194V	ENSP00000242592:A194V	A	+	2	0	0	ACADS	119660131	119660131	1.000000	0.71417	0.282000	0.24776	0.900000	0.52787	7.459000	0.80802	2.288000	0.76882	0.462000	0.41574	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_000017			75	75		348	342	1		1	1		0	0	90	0		1	1	0	55	0	128	0	75	348
SPPL3	121665	broad.mit.edu	37	12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	370						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)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468																																						ENST00000353487.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0										c.(1105-1107)Tct>Gct		signal peptide peptidase like 3							67.0	61.0	63.0					12																	121202852		2203	4300	6503	SO:0001583	missense	121665	0	0					g.chr12:121202852A>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1105T>G	chr12.hg19:g.121202852A>C	ENSP00000288680:p.Ser369Ala	0						p.S369A	NM_139015.4	NP_620584.2	0	1	1	1.988890	Q8TCT6	SPPL3_HUMAN		11	1608	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	1	1	hg19	c.1105T>G	CCDS9208.1	1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613923	0.46631	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18016	2.24	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.43757	1.38	0.80722	D	1	P;P	0.39424	0.673;0.625	B;B	0.40256	0.324;0.252	T	0.01977	-1.1236	10	0.33940	T	0.23	-32.8141	15.477	0.75489	1.0:0.0:0.0:0.0	.	370;369	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	A	369;368	ENSP00000288680:S369A	ENSP00000288680:S369A	S	-	1	0	0	AC069214.1	119687235	119687235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	0	0	1		13	16	2	1		1	1	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_139015			35	35		148	146	1		1	1		1	0	49	0		9.998158e-01	9.999586e-01	0	49	0	184	0	35	148
HNF1A	6927	broad.mit.edu	37	12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A|HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A	539					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				221						c.(1615-1617)Acc>Gcc		HNF1 homeobox A							80.0	82.0	81.0					12																	121437184		2203	4299	6502	SO:0001583	missense	6927	0	0		Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	g.chr12:121437184A>G	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1615A>G	chr12.hg19:g.121437184A>G	ENSP00000257555:p.Thr539Ala	0					HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A	p.T539A			0	1	1	1.988890	P20823	HNF1A_HUMAN		8	1841	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	1	1	hg19	c.1615A>G	CCDS9209.1	1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079208	0.55753	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.97089	-4.24;-4.24;-4.24	5.52	5.52	0.82312	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.099892	0.43110	D	0.000606	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.26002	0.114;0.139	B;B	0.24541	0.042;0.054	D	0.92434	0.5956	10	0.48119	T	0.1	-34.5381	14.8565	0.70341	1.0:0.0:0.0:0.0	.	539;539	F5H0K0;P20823	.;HNF1A_HUMAN	A	539;431;539;360;539;539	ENSP00000257555:T539A;ENSP00000443112:T539A;ENSP00000438804:T539A	ENSP00000257555:T539A	T	+	1	0	0	HNF1A	119921567	119921567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.104000	0.64026	0.528000	0.53228	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_000545			116	113		653	635	1		1	1		0	0	135	0		1	8.642383e-01	0	11	0	11	0	116	653
C12orf43	64897	broad.mit.edu	37	12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000288757.3	-	6	558	c.536G>A	c.(535-537)aGc>aAc	p.S179N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.S149N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	179										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602																																						ENST00000288757.3	1.000000	0.770000	1	8.600000e-01	0.960000	0.945098	0.960000	1.000000																										0				14						c.(535-537)aGc>aAc		chromosome 12 open reading frame 43							117.0	132.0	127.0					12																	121442209		2203	4300	6503	SO:0001583	missense	64897	0	0					g.chr12:121442209C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.536G>A	chr12.hg19:g.121442209C>T	ENSP00000288757:p.Ser179Asn	0					C12orf43_ENST00000445832.3_Missense_Mutation_p.S149N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000536407.2_Intron	p.S179N	NM_022895.1	NP_075046.1	0	1	1	1.988890	Q96C57	CL043_HUMAN		6	558	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	1	1	hg19	c.536G>A	CCDS9210.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138276|2.138276	0.37728|0.37728	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.48836	.|0.82;0.81;0.82;0.8;0.81	5.0|5.0	3.15|3.15	0.36227|0.36227	5.0|5.0	3.15|3.15	0.36227|0.36227	.|.	.|1.472730	.|0.03567	.|N	.|0.228022	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32467	.|0.006;0.006;0.372;0.006;0.152	.|B;B;B;B;B	.|0.32677	.|0.012;0.005;0.15;0.005;0.08	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.17369	.|T	.|0.5	-0.4383|-0.4383	9.3139|9.3139	0.37921|0.37921	0.1449:0.7773:0.0:0.0778|0.1449:0.7773:0.0:0.0778	.|.	.|169;138;180;169;179	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|N	133|149;179;180;138;169;117;134	.|ENSP00000409788:S149N;ENSP00000288757:S179N;ENSP00000442224:S180N;ENSP00000437803:S169N;ENSP00000442041:S117N	.|ENSP00000288757:S179N	A|S	-|-	1|2	0|0	0|0	C12orf43|C12orf43	119926592|119926592	119926592|119926592	0.068000|0.068000	0.21057|0.21057	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.963000|0.963000	0.29293|0.29293	0.771000|0.771000	0.33359|0.33359	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-17.737730	1	0.170000	NM_022895			77	74		851	835	1		1	1		0	0	151	0		1	9.766102e-01	0	16	0	51	0	77	851
OASL	8638	broad.mit.edu	37	12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	477	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)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGGAATTCCAGCTGCT	0.537																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5	0.810000	0.270000	6.600000e-01	3.700000e-01	0.500000	0.524763	0.500000	0.480000																										0				14						c.(1429-1431)gaA>gaC		2'-5'-oligoadenylate synthetase-like							75.0	72.0	73.0					12																	121458478		2203	4300	6503	SO:0001583	missense	8638	0	0					g.chr12:121458478T>G	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.1431A>C	chr12.hg19:g.121458478T>G	ENSP00000257570:p.Glu477Asp	0					OASL_ENST00000339275.5_3'UTR	p.E477D	NM_003733.3	NP_003724.1	0	1	1	1.988890	Q15646	OASL_HUMAN		6	1701	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	1	1	hg19	c.1431A>C	CCDS9211.1	0	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254112	0.39896	.	.	ENSG00000135114	ENST00000257570	T	0.73152	-0.72	5.65	1.84	0.25277	5.65	1.84	0.25277	Ubiquitin supergroup (1);Ubiquitin (2);	0.962372	0.08539	N	0.930852	T	0.60676	0.2287	L	0.41236	1.265	0.09310	N	1	P	0.38677	0.642	B	0.37550	0.253	T	0.49523	-0.8931	10	0.52906	T	0.07	-0.1712	7.0538	0.25087	0.0:0.6396:0.0:0.3604	.	477	Q15646	OASL_HUMAN	D	477	ENSP00000257570:E477D	ENSP00000257570:E477D	E	-	3	2	2	OASL	119942861	119942861	0.208000	0.23494	0.001000	0.08648	0.070000	0.16714	0.949000	0.29109	0.173000	0.19788	-0.242000	0.12053	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-14.113900	1	0.170000	NM_003733			12	11		271	268	0		1	1		0	0	66	0		9.990951e-01	9.861540e-01	0	7	0	158	0	12	271
ANAPC5	51433	broad.mit.edu	37	12	121746318	121746318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121746318G>A	ENST00000261819.3	-	17	2354	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	745					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)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAGGGCAGCTCCTGA	0.552																																						ENST00000261819.3	0.490000	0.130000	3.900000e-01	2.000000e-01	0.280000	0.300309	0.280000	0.270000																										0				31						c.(2233-2235)Ccc>Tcc		anaphase promoting complex subunit 5							86.0	84.0	85.0					12																	121746318		2203	4300	6503	SO:0001583	missense	51433	0	0					g.chr12:121746318G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2233C>T	chr12.hg19:g.121746318G>A	ENSP00000261819:p.Pro745Ser	0					ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S	p.P745S	NM_016237.4	NP_057321.2	0	1	1	1.988890	Q9UJX4	APC5_HUMAN		17	2354	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	0	1	hg19	c.2233C>T	CCDS9220.1	0	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758232	0.69763	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.053087	0.85682	D	0.000000	T	0.54951	0.1890	L	0.59436	1.845	0.80722	D	1	P;B;B	0.38597	0.639;0.123;0.264	B;B;B	0.35655	0.207;0.042;0.061	T	0.53041	-0.8494	9	0.24483	T	0.36	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	411;633;745	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	S	633;732;745;411;347;633	.	ENSP00000261819:P745S	P	-	1	0	0	ANAPC5	120230701	120230701	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.287229	1	0.170000				9	9		374	367	0		1	1		0	0	103	0		9.938511e-01	8.981878e-01	0	9	0	161	0	9	374
ANAPC5	51433	broad.mit.edu	37	12	121757499	121757499	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						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)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303																																						ENST00000261819.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.e13+1		anaphase promoting complex subunit 5							62.0	56.0	58.0					12																	121757499		2203	4299	6502	SO:0001630	splice_region_variant	51433	0	0					g.chr12:121757499C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1637+1G>T	chr12.hg19:g.121757499C>A		0					ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site		NM_016237.4	NP_057321.2	0	1	1	1.988890	Q9UJX4	APC5_HUMAN		13	1759	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		E9PFB2|Q8N4H7|Q9BQD4	Splice_Site	SNP	ENST00000261819.3	1	1	hg19		CCDS9220.1	1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680924	0.68042	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ANAPC5	120241882	120241882	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.608000	0.67654	2.598000	0.87819	0.563000	0.77884	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.998300	1	0.170000		Intron		30	29		94	93	1		1	0		0	0	43	0		1	0	0	0	0	1	0	30	94
ANAPC5	51433	broad.mit.edu	37	12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	487					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)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418																																						ENST00000261819.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1459-1461)tCt>tAt		anaphase promoting complex subunit 5							83.0	75.0	78.0					12																	121758243		2203	4300	6503	SO:0001583	missense	51433	0	0					g.chr12:121758243G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1460C>A	chr12.hg19:g.121758243G>T	ENSP00000261819:p.Ser487Tyr	0					ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y	p.S487Y	NM_016237.4	NP_057321.2	0	1	1	1.988890	Q9UJX4	APC5_HUMAN		12	1581	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	1	1	hg19	c.1460C>A	CCDS9220.1	1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339557	0.41398	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.59	4.68	0.58851	5.59	4.68	0.58851	Tetratricopeptide-like helical (1);	0.224732	0.47455	D	0.000226	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.16603	0.007;0.002;0.002;0.018	B;B;B;B	0.15870	0.008;0.003;0.009;0.014	T	0.46400	-0.9194	10	0.35671	T	0.21	.	15.5473	0.76112	0.0:0.1432:0.8568:0.0	.	153;89;375;487	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	375;474;487;153;89;375	ENSP00000415061:S375Y;ENSP00000439875:S474Y;ENSP00000261819:S487Y;ENSP00000343787:S375Y	ENSP00000261819:S487Y	S	-	2	0	0	ANAPC5	120242626	120242626	1.000000	0.71417	0.703000	0.30354	0.903000	0.53119	5.670000	0.68088	1.450000	0.47717	0.655000	0.94253	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				49	49		225	224	1		1	1		0	0	54	0		1	1	0	4	0	192	0	49	225
ANAPC5	51433	broad.mit.edu	37	12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	185					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)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383																																						ENST00000261819.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(553-555)aGa>aTa		anaphase promoting complex subunit 5							309.0	294.0	299.0					12																	121783678		2203	4300	6503	SO:0001583	missense	51433	0	0					g.chr12:121783678C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.554G>T	chr12.hg19:g.121783678C>A	ENSP00000261819:p.Arg185Ile	0					ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I	p.R185I	NM_016237.4	NP_057321.2	0	1	1	1.988890	Q9UJX4	APC5_HUMAN		4	675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	1	1	hg19	c.554G>T	CCDS9220.1	1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652843	0.29336	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.42	4.52	0.55395	5.42	4.52	0.55395	.	0.300312	0.41605	D	0.000858	T	0.13030	0.0316	N	0.14661	0.345	0.47737	D	0.999503	B;B	0.14805	0.002;0.011	B;B	0.15052	0.008;0.012	T	0.07520	-1.0768	10	0.18276	T	0.48	.	14.5878	0.68339	0.0:0.9286:0.0:0.0714	.	86;185	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	86;185;185;86;64;86	ENSP00000415061:R86I;ENSP00000439875:R185I;ENSP00000261819:R185I;ENSP00000343787:R86I;ENSP00000445310:R64I;ENSP00000440800:R86I	ENSP00000261819:R185I	R	-	2	0	0	ANAPC5	120268061	120268061	0.984000	0.35163	0.799000	0.32177	0.990000	0.78478	3.369000	0.52365	1.251000	0.43983	0.655000	0.94253	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	0	0	1		17	6	2	1		1	1	218		218	218	1	2.060000	-20.000000	1	0.170000				195	188		899	881	1		1	1		1	0	218	0		1	1	0	48	0	172	0	195	899
KDM2B	84678	broad.mit.edu	37	12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377071.4	-	20	3511	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1078W|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1147					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622																																						ENST00000377071.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999426	0.990000	1.000000																										0				19						c.(3439-3441)Cgg>Tgg		lysine (K)-specific demethylase 2B							34.0	39.0	37.0					12																	121878882		2037	4196	6233	SO:0001583	missense	84678	0	0					g.chr12:121878882G>A	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.3439C>T	chr12.hg19:g.121878882G>A	ENSP00000366271:p.Arg1147Trp	0					KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1078W|KDM2B_ENST00000536437.1_Intron	p.R1147W	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		20	3511	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	1	1	hg19	c.3439C>T	CCDS41850.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626902	0.66901	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.38401	1.14;1.14;1.14	6.05	2.99	0.34606	6.05	2.99	0.34606	.	0.000000	0.47852	D	0.000205	T	0.62684	0.2448	M	0.90082	3.085	0.80722	D	1	P;B;D;P	0.89917	0.942;0.071;1.0;0.861	P;B;D;B	0.87578	0.522;0.011;0.998;0.227	T	0.66870	-0.5814	10	0.87932	D	0	-27.807	9.1238	0.36803	0.15:0.0:0.6901:0.16	.	587;1147;1078;590	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	1135;515;1078;1147;590;1150	ENSP00000437821:R515W;ENSP00000366269:R1078W;ENSP00000366271:R1147W	ENSP00000261824:R1150W	R	-	1	2	2	KDM2B	120363265	120363265	1.000000	0.71417	0.480000	0.27341	0.828000	0.46876	2.543000	0.45752	0.905000	0.36596	0.643000	0.83706	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_032590			29	28		187	184	1		1	1		0	0	34	0		1	9.936414e-01	0	7	0	47	0	29	187
KDM2B	84678	broad.mit.edu	37	12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377071.4	-	19	3316	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M	KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377069.4_Missense_Mutation_p.L1013M|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1082	F-box.				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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662																																						ENST00000377071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(3244-3246)Ctg>Atg		lysine (K)-specific demethylase 2B							34.0	38.0	37.0					12																	121880000		2067	4189	6256	SO:0001583	missense	84678	0	0					g.chr12:121880000G>T	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.3244C>A	chr12.hg19:g.121880000G>T	ENSP00000366271:p.Leu1082Met	0					KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377069.4_Missense_Mutation_p.L1013M|KDM2B_ENST00000536437.1_Intron	p.L1082M	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		19	3316	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	1	1	hg19	c.3244C>A	CCDS41850.1	1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869251	0.72065	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22743	1.94;1.94;1.94	5.85	2.95	0.34219	5.85	2.95	0.34219	F-box domain, cyclin-like (2);	0.147705	0.30575	N	0.009333	T	0.53498	0.1800	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.996	D;D;D;D	0.91635	0.981;0.999;0.999;0.975	T	0.58002	-0.7713	10	0.87932	D	0	-20.2148	9.0297	0.36252	0.3872:0.0:0.6128:0.0	.	522;1082;1013;525	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	1070;450;1013;1082;525;1085	ENSP00000437821:L450M;ENSP00000366269:L1013M;ENSP00000366271:L1082M	ENSP00000261824:L1085M	L	-	1	2	2	KDM2B	120364383	120364383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.798000	0.47884	0.334000	0.23590	0.650000	0.86243	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_032590			50	50		201	196	1		1	1		0	0	48	0		1	9.972234e-01	0	7	0	32	0	50	201
KDM2B	84678	broad.mit.edu	37	12	121880187	121880187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377071.4	-	19	3129	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377069.4_Silent_p.P950P|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1019	Pro-rich.				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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741																																						ENST00000377071.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996504	0.990000	1.000000																										0				19						c.(3055-3057)ccG>ccA		lysine (K)-specific demethylase 2B							5.0	6.0	6.0					12																	121880187		1642	3649	5291	SO:0001819	synonymous_variant	84678	0	0					g.chr12:121880187C>T	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.3057G>A	chr12.hg19:g.121880187C>T		0					KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377069.4_Silent_p.P950P|KDM2B_ENST00000536437.1_Intron	p.P1019P	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		19	3129	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	0	1	hg19	c.3057G>A	CCDS41850.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-19.999890	1	0.170000	NM_032590			14	11		82	78	0		1	0		0	0	11	0		9.997119e-01	2.297631e-01	0	1	0	5	0	14	82
KDM2B	84678	broad.mit.edu	37	12	121880308	121880308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880308C>T	ENST00000377071.4	-	19	3008	c.2936G>A	c.(2935-2937)aGc>aAc	p.S979N	KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S910N|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	979					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGCCCTCGCTCTCAGGCTC	0.677																																						ENST00000377071.4	0.750000	0.200000	5.900000e-01	2.900000e-01	0.420000	0.448279	0.420000	0.410000																										0				19						c.(2935-2937)aGc>aAc		lysine (K)-specific demethylase 2B							27.0	32.0	30.0					12																	121880308		2129	4242	6371	SO:0001583	missense	84678	0	0					g.chr12:121880308C>T	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.2936G>A	chr12.hg19:g.121880308C>T	ENSP00000366271:p.Ser979Asn	0					KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S910N|KDM2B_ENST00000536437.1_Intron	p.S979N	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		19	3008	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	0	1	hg19	c.2936G>A	CCDS41850.1	0	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458903	0.43634	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24538	2.15;2.43;1.85	5.62	4.73	0.59995	5.62	4.73	0.59995	.	1.126930	0.06412	N	0.720756	T	0.32823	0.0842	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.002	T	0.03555	-1.1025	10	0.44086	T	0.13	-15.1863	14.2533	0.66035	0.0:0.9285:0.0:0.0715	.	419;979;910;422	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	967;347;910;979;422;982	ENSP00000437821:S347N;ENSP00000366269:S910N;ENSP00000366271:S979N	ENSP00000261824:S982N	S	-	2	0	0	KDM2B	120364691	120364691	0.998000	0.40836	0.882000	0.34594	0.079000	0.17450	3.786000	0.55431	1.371000	0.46172	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-10.320000	1	0.170000	NM_032590			8	8		220	219	0		1	0		0	0	29	0		9.895505e-01	2.288511e-01	0	1	0	22	0	8	220
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377071.4	-	16	2482	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R773W|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	804					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2410-2412)Cgg>Tgg		lysine (K)-specific demethylase 2B							72.0	79.0	77.0					12																	121881856		2036	4166	6202	SO:0001583	missense	84678	0	0					g.chr12:121881856G>A	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.2410C>T	chr12.hg19:g.121881856G>A	ENSP00000366271:p.Arg804Trp	0		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R773W|KDM2B_ENST00000536437.1_Intron	p.R804W	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		16	2482	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	1	1	hg19	c.2410C>T	CCDS41850.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031468	0.75504	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26518	2.01;2.25;1.73	5.92	5.02	0.67125	5.92	5.02	0.67125	.	0.275088	0.24502	N	0.037974	T	0.45357	0.1338	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;P;D	0.65987	0.876;0.94;0.874;0.912	T	0.42344	-0.9457	10	0.66056	D	0.02	-10.6048	15.1846	0.72989	0.0:0.0:0.6697:0.3303	.	244;804;773;247	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	804;172;773;804;247;807	ENSP00000437821:R172W;ENSP00000366269:R773W;ENSP00000366271:R804W	ENSP00000261824:R807W	R	-	1	2	2	KDM2B	120366239	120366239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	1.491000	0.48482	0.561000	0.74099	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-4.121434	1	0.170000	NM_032590			152	151		556	546	1		1	1		0	0	120	0		1	9.998233e-01	0	6	0	42	0	152	556
ERC1	23085	broad.mit.edu	37	12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000397203.2	+	5	1663	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	419					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)			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)			CTGAGGAAAGGGAAGAAGAAA	0.388																																						ENST00000397203.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				38						c.(1255-1257)agG>agT		ELKS/RAB6-interacting/CAST family member 1							115.0	117.0	116.0					12																	1219453		2203	4300	6503	SO:0001583	missense	23085	0	0					g.chr12:1219453G>T	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.1257G>T	chr12.hg19:g.1219453G>T	ENSP00000380386:p.Arg419Ser	0					ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S	p.R419S			0	0	0	1.930325	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)	5	1663	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	1	1	hg19	c.1257G>T	CCDS8508.1	1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492438	0.64074	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.93	1.33	0.21861	5.93	1.33	0.21861	.	0.059501	0.64402	D	0.000001	T	0.69717	0.3142	L	0.54323	1.7	0.49213	D	0.999763	P;D;D;D;D	0.64830	0.917;0.974;0.994;0.993;0.988	P;P;P;P;D	0.65233	0.557;0.786;0.856;0.863;0.933	T	0.67845	-0.5565	10	0.10636	T	0.68	-17.5835	2.8857	0.05660	0.2938:0.0969:0.463:0.1462	.	195;56;419;419;419	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	S	419;419;419;419;419;419;419;419;419;419;195;56	ENSP00000340054:R419S;ENSP00000380386:R419S;ENSP00000438546:R419S;ENSP00000445336:R419S;ENSP00000442739:R419S;ENSP00000347621:R419S;ENSP00000354158:R419S;ENSP00000410064:R419S	ENSP00000340054:R419S	R	+	3	2	2	ERC1	1089714	1089714	0.221000	0.23642	0.999000	0.59377	0.900000	0.52787	-0.547000	0.06055	0.356000	0.24157	0.585000	0.79938	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-2.929674	1	0.170000	NM_015064			52	51		283	281	1		1	1		0	0	63	0		1	9.972100e-01	0	9	0	42	0	52	283
KDM2B	84678	broad.mit.edu	37	12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377071.4	-	13	1919	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C585Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	616					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697																																						ENST00000377071.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				19						c.(1846-1848)tGc>tAc		lysine (K)-specific demethylase 2B							20.0	23.0	22.0					12																	121891035		1990	4162	6152	SO:0001583	missense	84678	0	0					g.chr12:121891035C>T	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.1847G>A	chr12.hg19:g.121891035C>T	ENSP00000366271:p.Cys616Tyr	0					KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C585Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	p.C616Y	NM_032590.4	NP_115979.3	0	1	1	1.988890	Q8NHM5	KDM2B_HUMAN		13	1919	-			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	1	1	hg19	c.1847G>A	CCDS41850.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945866	0.92593	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.73575	0.32;-0.3;-0.76	5.18	5.18	0.71444	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000021	D	0.90410	0.6998	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.977;0.998	D	0.92755	0.6219	10	0.87932	D	0	-19.2876	18.8727	0.92322	0.0:1.0:0.0:0.0	.	56;499;616;585;56	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	Y	616;585;616;499;616;56;616	ENSP00000366269:C585Y;ENSP00000366271:C616Y;ENSP00000445196:C499Y	ENSP00000261824:C616Y	C	-	2	0	0	KDM2B	120375418	120375418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.694000	0.91930	0.555000	0.69702	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_032590			28	28		112	112	1		1	1		0	0	19	0		1	7.253047e-01	0	3	0	9	0	28	112
MORN3	283385	broad.mit.edu	37	12	122097217	122097217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	61						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587																																						ENST00000355329.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990175	0.990000	1.000000																										0				9						c.(181-183)atC>atT		MORN repeat containing 3							140.0	110.0	120.0					12																	122097217		2203	4300	6503	SO:0001819	synonymous_variant	283385	0	0					g.chr12:122097217G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.183C>T	chr12.hg19:g.122097217G>A		0						p.I61I	NM_173855.4	NP_776254.3	0	1	1	1.988890	Q6PF18	MORN3_HUMAN		2	353	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q86YQ9	Silent	SNP	ENST00000355329.3	1	1	hg19	c.183C>T	CCDS31917.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.221884	1	0.170000	NM_173855			38	36		334	324	1		1	0		0	0	69	0		1	1.616391e-01	0	0	0	7	0	38	334
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T	rs190870395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18366	0.0		0.0	False		,,,				2504	0.0					ENST00000355329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(121-123)Gag>Aag		MORN repeat containing 3							123.0	97.0	106.0					12																	122107269		2203	4300	6503	SO:0001583	missense	283385	6	121412	41				g.chr12:122107269C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.121G>A	chr12.hg19:g.122107269C>T	ENSP00000347486:p.Glu41Lys	0		OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1516		p.E41K	NM_173855.4	NP_776254.3	0	1	1	1.988890	Q6PF18	MORN3_HUMAN		1	291	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	1	1	hg19	c.121G>A	CCDS31917.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.114304	0.77210	.	.	ENSG00000139714	ENST00000355329	T	0.62364	0.03	5.11	3.25	0.37280	5.11	3.25	0.37280	.	0.052848	0.64402	D	0.000001	T	0.75421	0.3847	M	0.76938	2.355	0.43271	D	0.995226	D	0.89917	1.0	D	0.87578	0.998	T	0.74417	-0.3672	10	0.62326	D	0.03	.	7.7258	0.28759	0.0:0.747:0.1628:0.0902	.	41	Q6PF18	MORN3_HUMAN	K	41	ENSP00000347486:E41K	ENSP00000347486:E41K	E	-	1	0	0	MORN3	120591652	120591652	0.970000	0.33590	1.000000	0.80357	0.799000	0.45148	2.323000	0.43823	0.639000	0.30564	0.462000	0.41574	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	0		2	2	2	0		0	0	116		116	114	1	2.060000	-2.991265	1	0.170000	NM_173855			108	105		484	478	1		1	1		0	0	116	0		1	3.043198e-01	0	2	0	4	0	108	484
MORN3	283385	broad.mit.edu	37	12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	19						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCCTTCCGGTCCCACCCC	0.592																																						ENST00000355329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(55-57)Cgg>Tgg		MORN repeat containing 3		G	TRP/ARG	0,4406		0,0,2203	127.0	111.0	117.0		55	2.3	0.4	12	dbSNP_126	117	8,8592	6.4+/-24.3	0,8,4292	yes	missense	MORN3	NM_173855.4	101	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	probably-damaging	19/241	122107335	8,12998	2203	4300	6503	SO:0001583	missense	283385	112	121412	55				g.chr12:122107335G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.55C>T	chr12.hg19:g.122107335G>A	ENSP00000347486:p.Arg19Trp	0						p.R19W	NM_173855.4	NP_776254.3	0	1	1	1.988890	Q6PF18	MORN3_HUMAN		1	225	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	1	0	hg19	c.55C>T	CCDS31917.1	1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450955	0.43531	0.0	9.3E-4	ENSG00000139714	ENST00000355329	T	0.73363	-0.74	5.32	2.34	0.29019	5.32	2.34	0.29019	.	1.198000	0.06160	N	0.675752	T	0.70945	0.3282	L	0.50333	1.59	0.32464	N	0.543759	D	0.56287	0.975	B	0.43809	0.432	T	0.65672	-0.6111	10	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.1542:0.5267:0.3191	rs35779661	19	Q6PF18	MORN3_HUMAN	W	19	ENSP00000347486:R19W	ENSP00000347486:R19W	R	-	1	2	2	MORN3	120591718	120591718	0.599000	0.26891	0.356000	0.25785	0.892000	0.51952	0.652000	0.24888	0.268000	0.21939	0.462000	0.41574	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	0		2	2	2	0		0	0	125		125	124	1	2.060000	-2.801436	1	0.170000	NM_173855			117	115		578	565	1		1	1		0	0	125	0		1	4.031189e-01	0	2	0	6	0	117	578
RHOF	54509	broad.mit.edu	37	12	122219028	122219028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000267205.2	-	3	925	c.297C>T	c.(295-297)gaC>gaT	p.D99D	RHOF_ENST00000537171.1_Silent_p.D99D|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_De_novo_Start_OutOfFrame|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	99					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642																																						ENST00000267205.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				3						c.(295-297)gaC>gaT		ras homolog family member F (in filopodia)							134.0	123.0	127.0					12																	122219028		2203	4300	6503	SO:0001819	synonymous_variant	54509	2	121412	32				g.chr12:122219028G>A	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.297C>T	chr12.hg19:g.122219028G>A		0					TMEM120B_ENST00000538055.1_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_De_novo_Start_OutOfFrame	p.D99D	NM_019034.2	NP_061907.2	0	1	1	1.988890	Q9HBH0	RHOF_HUMAN		3	925	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Q8WVB1|Q9NXH6	Silent	SNP	ENST00000267205.2	1	0	hg19	c.297C>T	CCDS9222.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.319715	1	0.170000				55	55		330	321	1		1	1		0	0	66	0		1	1	0	195	0	206	0	55	330
HPD	3242	broad.mit.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	rs140144597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000289004.4	-	12	871	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_ENST00000543163.1_Missense_Mutation_p.R240H	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					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)			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)	TCTCAAGTGGCGAATCTGTTT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		16832	0.0		0.001	False		,,,				2504	0.001					ENST00000289004.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				18						c.(835-837)cGc>cAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114.0	107.0	109.0		719,836	2.3	1.0	12	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HPD	NM_001171993.1,NM_002150.2	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	240/355,279/394	122281734	3,13003	2203	4300	6503	SO:0001583	missense	3242	37	121412	46				g.chr12:122281734C>T	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.836G>A	chr12.hg19:g.122281734C>T	ENSP00000289004:p.Arg279His	0					HPD_ENST00000543163.1_Missense_Mutation_p.R240H	p.R279H	NM_002150.2	NP_002141	0	1	1	1.988890	P32754	HPPD_HUMAN		12	871	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	1	1	hg19	c.836G>A	CCDS9224.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	0	HPD	120766117	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-3.223509	1	0.170000	NM_002150			36	34		209	206	1		1	0		0	0	39	0		1	0	0	0	0	1	0	36	209
HPD	3242	broad.mit.edu	37	12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000289004.4	-	4	211	c.176G>A	c.(175-177)aGc>aAc	p.S59N	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.S20N	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	59					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)			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)	GATTACATGGCTGACCACCTC	0.547																																						ENST00000289004.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(175-177)aGc>aAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						80.0	80.0	80.0					12																	122295256		2203	4300	6503	SO:0001583	missense	3242	0	0					g.chr12:122295256C>T	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.176G>A	chr12.hg19:g.122295256C>T	ENSP00000289004:p.Ser59Asn	0					HPD_ENST00000543163.1_Missense_Mutation_p.S20N|RP11-7M8.2_ENST00000543848.1_RNA	p.S59N	NM_002150.2	NP_002141	0	1	1	1.988890	P32754	HPPD_HUMAN		4	211	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	1	1	hg19	c.176G>A	CCDS9224.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671351	0.88348	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.63913	-0.07;-0.07	5.48	4.54	0.55810	5.48	4.54	0.55810	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.149579	0.64402	D	0.000008	T	0.72228	0.3434	M	0.90870	3.155	0.49915	D	0.999838	P	0.36330	0.548	B	0.41723	0.365	T	0.78094	-0.2338	10	0.72032	D	0.01	-48.2563	12.0439	0.53469	0.0:0.7096:0.2904:0.0	.	59	P32754	HPPD_HUMAN	N	59;56;20	ENSP00000289004:S59N;ENSP00000441677:S20N	ENSP00000289004:S59N	S	-	2	0	0	HPD	120779639	120779639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.017000	0.70805	2.741000	0.93983	0.555000	0.69702	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_002150			68	67		399	389	1		1	0		0	0	89	0		1	2.181867e-02	0	0	0	2	0	68	399
PSMD9	5715	broad.mit.edu	37	12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000541212.1	+	3	577	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151	PDZ.				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 insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622																																						ENST00000541212.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				3						c.(451-453)Gcg>Acg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 9		G	THR/ALA	1,4405		0,1,2202	34.0	39.0	37.0		451	4.7	1.0	12	dbSNP_134	37	0,8600		0,0,4300	no	missense	PSMD9	NM_002813.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	151/224	122337749	1,13005	2203	4300	6503	SO:0001583	missense	5715	9	121400	41				g.chr12:122337749G>A	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.451G>A	chr12.hg19:g.122337749G>A	ENSP00000440485:p.Ala151Thr	0					PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron	p.A151T			0	1	1	1.988890	O00233	PSMD9_HUMAN		3	577	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	ENST00000541212.1	1	1	hg19	c.451G>A	CCDS9225.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809965	0.90707	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.62	4.66	0.58398	5.62	4.66	0.58398	PDZ/DHR/GLGF (2);	0.103761	0.64402	D	0.000002	T	0.60301	0.2258	H	0.98388	4.22	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.943	T	0.73062	-0.4101	10	0.66056	D	0.02	-36.6176	11.2076	0.48780	0.0:0.0:0.5971:0.4029	.	151;151	F8W7V8;O00233	.;PSMD9_HUMAN	T	151;151;151;151;62	ENSP00000440485:A151T;ENSP00000340847:A151T;ENSP00000261817:A151T;ENSP00000443081:A151T;ENSP00000443929:A62T	ENSP00000261817:A151T	A	+	1	0	0	PSMD9	120822132	120822132	1.000000	0.71417	0.952000	0.39060	0.845000	0.48019	3.743000	0.55104	2.648000	0.89879	0.563000	0.77884	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_002813			38	38		221	217	1		1	1		0	0	49	0		1	1	0	78	0	258	0	38	221
WDR66	144406	broad.mit.edu	37	12	122380800	122380800	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000288912.4	+	7	1964		c.e7-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66								calcium ion binding (GO:0005509)			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)		GTCACCTACAGAAGGTATGCA	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.e7-1		WD repeat domain 66							98.0	99.0	99.0					12																	122380800		2004	4190	6194	SO:0001630	splice_region_variant	144406	0	0					g.chr12:122380800G>T	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.1111-1G>T	chr12.hg19:g.122380800G>T		0					WDR66_ENST00000397454.2_Splice_Site		NM_144668.5	NP_653269.3	0	1	1	1.988890	Q8TBY9	WDR66_HUMAN		7	1964	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Splice_Site	SNP	ENST00000288912.4	1	1	hg19		CCDS41853.1	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779734	0.31502	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.99	4.99	0.66335	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	WDR66	120865183	120865183	1.000000	0.71417	0.967000	0.41034	0.144000	0.21451	6.434000	0.73408	2.316000	0.78162	0.557000	0.71058	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.252253	1	0.170000	NM_144668	Intron		48	46		244	239	1		1			0	0	55	0		1	0	0	0	0	0	0	48	244
BCL7A	605	broad.mit.edu	37	12	122497016	122497016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122497016C>T	ENST00000261822.4	+	6	786	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCL7A_ENST00000538010.1_Missense_Mutation_p.P215S	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	194					negative regulation of transcription, DNA-templated (GO:0045892)					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)		AGGAGTGCCACCCTCTAAAAA	0.512			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)	ENST00000261822.4	0.630000	0.160000	4.900000e-01	2.500000e-01	0.350000	0.377726	0.350000	0.340000				Dom	yes			Dom	yes		12	12q24.1	12q24.1	605	T	B-cell CLL/lymphoma 7A				L	L	MYC		BNHL		0				18						c.(580-582)Ccc>Tcc		B-cell CLL/lymphoma 7A							83.0	79.0	80.0					12																	122497016		2203	4300	6503	SO:0001583	missense	605	0	0					g.chr12:122497016C>T	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.580C>T	chr12.hg19:g.122497016C>T	ENSP00000261822:p.Pro194Ser	0					BCL7A_ENST00000538010.1_Missense_Mutation_p.P215S	p.P194S	NM_001024808.1	NP_001019979.1	0	1	1	1.988890	Q4VC05	BCL7A_HUMAN		6	786	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	0	1	hg19	c.580C>T	CCDS53841.1	0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045087	0.75846	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.65549	-0.16;0.71	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.263731	0.38111	N	0.001805	T	0.66963	0.2843	L	0.29908	0.895	0.54753	D	0.99998	P;D	0.56746	0.914;0.977	B;P	0.55923	0.406;0.787	T	0.70733	-0.4791	10	0.87932	D	0	.	19.3196	0.94233	0.0:1.0:0.0:0.0	.	194;215	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	S	215;194	ENSP00000445868:P215S;ENSP00000261822:P194S	ENSP00000261822:P194S	P	+	1	0	0	BCL7A	120981399	120981399	0.999000	0.42202	0.950000	0.38849	0.663000	0.39108	5.296000	0.65698	2.549000	0.85964	0.655000	0.94253	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-8.920106	1	0.170000				8	7		264	253	0		1	1		0	0	76	0		9.875784e-01	2.007539e-01	0	5	0	20	0	8	264
MLXIP	22877	broad.mit.edu	37	12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W|MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W					MLX interacting protein											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)		TCCCCAGCCACGGTTAACTTT	0.612																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.7	1.000000	0.610000	1	8.400000e-01	0.990000	0.945674	0.990000	1.000000																										0				20						c.(1603-1605)Cgg>Tgg		MLX interacting protein							23.0	27.0	26.0					12																	122618405		1982	4159	6141	SO:0001583	missense	22877	0	0					g.chr12:122618405C>T	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.1603C>T	chr12.hg19:g.122618405C>T	ENSP00000312834:p.Arg535Trp	0					MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W|MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W	p.R535W			0	1	1	1.988890				9	1735	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		Missense_Mutation	SNP	ENST00000319080.7	0	1	hg19	c.1603C>T		1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717397	0.48622	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.81415	-1.49;-1.49;-1.49	5.09	2.06	0.26882	5.09	2.06	0.26882	.	0.532223	0.19799	N	0.105790	T	0.78723	0.4328	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.50708	0.648;0.513	T	0.67987	-0.5528	9	0.38643	T	0.18	0.314	8.0807	0.30744	0.0:0.7134:0.0:0.2866	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	535;142;142;125	ENSP00000312834:R535W;ENSP00000440769:R142W;ENSP00000366236:R125W	ENSP00000312834:R535W	R	+	1	2	2	MLXIP	121184358	121184358	0.000000	0.05858	0.053000	0.19242	0.991000	0.79684	0.859000	0.27858	0.098000	0.17522	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-17.574310	1	0.170000	NM_014938			11	10		102	96	0		1	1		0	0	16	0		9.979103e-01	9.979103e-01	0	3	0	103	0	11	102
MLXIP	22877	broad.mit.edu	37	12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N					MLX interacting protein											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)		CCCGGAGTTCCACAGCAGCAT	0.652																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.997892	0.990000	1.000000																										0				20						c.(1876-1878)Cac>Aac		MLX interacting protein							19.0	24.0	22.0					12																	122620057		2026	4188	6214	SO:0001583	missense	22877	0	0					g.chr12:122620057C>A	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.1876C>A	chr12.hg19:g.122620057C>A	ENSP00000312834:p.His626Asn	0					MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N	p.H626N			0	1	1	1.988890				11	2008	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		Missense_Mutation	SNP	ENST00000319080.7	1	1	hg19	c.1876C>A		1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331774	0.60853	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	T;T;T	0.46451	2.51;1.85;0.87	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.822880	0.11534	N	0.554380	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.23419	0.046	T	0.14559	-1.0468	9	0.12766	T	0.61	-13.6986	18.6435	0.91402	0.0:1.0:0.0:0.0	.	626	Q9HAP2	MLXIP_HUMAN	N	626;233;233;97	ENSP00000312834:H626N;ENSP00000440769:H233N;ENSP00000445891:H97N	ENSP00000312834:H626N	H	+	1	0	0	MLXIP	121186010	121186010	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.649000	0.61433	2.395000	0.81488	0.455000	0.32223	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999940	1	0.170000	NM_014938			14	14		75	72	1		1	1		0	0	15	0		9.997930e-01	9.998515e-01	0	6	0	84	0	14	75
MLXIP	22877	broad.mit.edu	37	12	122620104	122620104	+	Silent	SNP	G	G	A	rs369340273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P					MLX interacting protein											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)		CGAGCAGCCCGCCTGCCCCCG	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				20						c.(1921-1923)ccG>ccA		MLX interacting protein		G		2,3986		0,2,1992	15.0	20.0	18.0		1513	1.6	0.9	12		18	0,8332		0,0,4166	no	coding-synonymous	MLXIP	NM_014938.3		0,2,6158	AA,AG,GG		0.0,0.0502,0.0162		641/920	122620104	2,12318	1994	4166	6160	SO:0001819	synonymous_variant	22877	9	120636	37				g.chr12:122620104G>A	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.1923G>A	chr12.hg19:g.122620104G>A		0					MLXIP_ENST00000538698.1_Silent_p.P248P	p.P641P			0	1	1	1.988890				11	2055	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		Silent	SNP	ENST00000319080.7	1	1	hg19	c.1923G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_014938			17	16		59	58	1		1	1		0	0	15	0		9.999774e-01	9.999822e-01	0	6	0	69	0	17	59
MLXIP	22877	broad.mit.edu	37	12	122622746	122622746	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R					MLX interacting protein											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)		AGCAGAACCGGCAGATGAAGC	0.552																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999269	0.990000	1.000000																										0				20						c.(2158-2160)cgG>cgA		MLX interacting protein							29.0	31.0	30.0					12																	122622746		2175	4270	6445	SO:0001819	synonymous_variant	22877	0	0					g.chr12:122622746G>A	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.2160G>A	chr12.hg19:g.122622746G>A		0					MLXIP_ENST00000538698.1_Silent_p.R327R	p.R720R			0	1	1	1.988890				13	2292	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		Silent	SNP	ENST00000319080.7	1	1	hg19	c.2160G>A		1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329769	0.24167	.	.	ENSG00000175727	ENST00000542417	.	.	.	4.4	2.52	0.30459	4.4	2.52	0.30459	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-16.2681	4.6094	0.12395	0.2854:0.1654:0.5492:0.0	.	.	.	.	D	56	.	.	G	+	2	0	0	MLXIP	121188699	121188699	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.251000	0.18257	0.835000	0.34877	0.561000	0.74099	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-19.999980	1	0.170000	NM_014938			13	13		53	52	1		1	1		0	0	14	0		9.996886e-01	9.999838e-01	0	9	0	87	0	13	53
LRRC43	254050	broad.mit.edu	37	12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	91								p.R91H(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)		GTCCGCAGCCGCCACTCCCCC	0.607																																						ENST00000339777.4	1.000000	0.360000	8.900000e-01	5.000000e-01	0.680000	0.696931	0.680000	1.000000																										1	Substitution - Missense(1)	p.R91H(1)	breast(1)	19						c.(271-273)cGc>cAc		leucine rich repeat containing 43							38.0	42.0	41.0					12																	122669187		1948	4134	6082	SO:0001583	missense	254050	4	120886	39				g.chr12:122669187G>A	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.272G>A	chr12.hg19:g.122669187G>A	ENSP00000344233:p.Arg91His	0					LRRC43_ENST00000425921.1_5'UTR	p.R91H	NM_152759.4	NP_689972.3	0	1	1	1.988890	Q8N309	LRC43_HUMAN		2	300	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	1	1	hg19	c.272G>A	CCDS45001.1	0	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907017	0.52333	.	.	ENSG00000158113	ENST00000339777	T	0.55588	0.51	4.94	0.924	0.19418	4.94	0.924	0.19418	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.58432	D	0.999993	B	0.33807	0.426	B	0.11329	0.006	T	0.03981	-1.0987	9	0.52906	T	0.07	-2.3834	5.9409	0.19192	0.1277:0.4215:0.3783:0.0725	.	91	Q8N309	LRC43_HUMAN	H	91	ENSP00000344233:R91H	ENSP00000344233:R91H	R	+	2	0	0	LRRC43	121235140	121235140	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.107000	0.10873	0.125000	0.18397	-0.384000	0.06662	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	1		2	2	2	0		0	0	28		28	23	1	2.060000	-3.228142	1	0.170000	NM_152759			11	11		181	169	0		1	0		0	0	28	0		9.978306e-01	3.567526e-02	0	0	0	5	0	11	181
LRRC43	254050	broad.mit.edu	37	12	122677357	122677357	+	Silent	SNP	C	C	T	rs184792850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	385	Glu-rich.									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)		TCGTGGAAGACGTCATCGAAG	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0					ENST00000339777.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1153-1155)gaC>gaT		leucine rich repeat containing 43							114.0	114.0	114.0					12																	122677357		2032	4205	6237	SO:0001819	synonymous_variant	254050	1	120986	34				g.chr12:122677357C>T	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.1155C>T	chr12.hg19:g.122677357C>T		0					LRRC43_ENST00000425921.1_Silent_p.D200D	p.D385D	NM_152759.4	NP_689972.3	0	1	1	1.988890	Q8N309	LRC43_HUMAN		7	1183	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q6ZVT9	Silent	SNP	ENST00000339777.4	1	1	hg19	c.1155C>T	CCDS45001.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_152759			68	67		275	270	1		1			0	0	57	0		1	0	0	0	0	0	0	68	275
LRP6	4040	broad.mit.edu	37	12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000261349.4	-	23	4646	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					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)			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)				GGTGCAAAGTGCCGGTAGCTA	0.458																																						ENST00000261349.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(4570-4572)Cac>Tac		low density lipoprotein receptor-related protein 6							97.0	100.0	99.0					12																	12274332		2203	4300	6503	SO:0001583	missense	4040	0	0					g.chr12:12274332G>A	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.4570C>T	chr12.hg19:g.12274332G>A	ENSP00000261349:p.His1524Tyr	0					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	p.H1524Y	NM_002336.2	NP_002327.2	1	2	3	2.002308	O75581	LRP6_HUMAN		23	4646	-		Prostate(47;0.0865)	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	1	1	hg19	c.4570C>T	CCDS8647.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343291	0.41498	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92965	-3.08;-3.14	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	D	0.90208	0.6939	L	0.43152	1.355	0.58432	D	0.999998	P;B	0.46912	0.886;0.012	B;B	0.41510	0.359;0.008	D	0.90167	0.4232	10	0.49607	T	0.09	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Y	1524;1479	ENSP00000261349:H1524Y;ENSP00000442472:H1479Y	ENSP00000261349:H1524Y	H	-	1	0	0	LRP6	12165599	12165599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.044000	0.71012	2.780000	0.95670	0.643000	0.83706	CAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000				85	84		539	514	1		1	1		0	0	126	0		1	9.993021e-01	0	21	0	48	0	85	539
B3GNT4	79369	broad.mit.edu	37	12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000324189.4	+	3	961	c.605G>A	c.(604-606)cGc>cAc	p.R202H	B3GNT4_ENST00000535274.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	202					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|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)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567																																						ENST00000324189.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(604-606)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							45.0	48.0	47.0					12																	122691403		2203	4300	6503	SO:0001583	missense	79369	0	0					g.chr12:122691403G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.605G>A	chr12.hg19:g.122691403G>A	ENSP00000319636:p.Arg202His	0					B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000535274.1_Missense_Mutation_p.R177H	p.R202H	NM_030765.2	NP_110392.1	0	1	1	1.988890	Q9C0J1	B3GN4_HUMAN		3	961	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	1	1	hg19	c.605G>A	CCDS9227.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174716	0.78452	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.04	0.47022	4.93	4.04	0.47022	.	0.000000	0.50627	D	0.000104	T	0.60327	0.2260	M	0.67517	2.055	0.35791	D	0.822427	D	0.89917	1.0	D	0.71414	0.973	T	0.71876	-0.4460	10	0.72032	D	0.01	.	12.8768	0.57994	0.0799:0.0:0.9201:0.0	.	202	Q9C0J1	B3GN4_HUMAN	H	202;177;177	ENSP00000319636:R202H;ENSP00000438840:R177H;ENSP00000444534:R177H	ENSP00000319636:R202H	R	+	2	0	0	B3GNT4	121257356	121257356	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.880000	0.63107	1.201000	0.43203	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_030765			59	59		318	313	1		1	1		0	0	62	0		1	4.839237e-01	0	7	0	3	0	59	318
CLIP1	6249	broad.mit.edu	37	12	122825825	122825825	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122825825C>T	ENST00000540338.1	-	10	1967	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	CLIP1_ENST00000361654.4_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000358808.2_Silent_p.K631K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000537178.1_Silent_p.K596K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	642					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)			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)		TGAAAGATACCTTCAGTTCTT	0.438																																						ENST00000540338.1	0.560000	0.250000	4.800000e-01	3.100000e-01	0.390000	0.403372	0.390000	0.390000																										0				60						c.(1924-1926)aaG>aaA		CAP-GLY domain containing linker protein 1							144.0	139.0	140.0					12																	122825825		2203	4300	6503	SO:0001819	synonymous_variant	6249	0	0					g.chr12:122825825C>T		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.1926G>A	chr12.hg19:g.122825825C>T		0					CLIP1_ENST00000361654.4_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000358808.2_Silent_p.K631K	p.K642K			0	1	1	1.988890	P30622	CLIP1_HUMAN		10	1967	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	1	1	hg19	c.1926G>A	CCDS58285.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-2.898973	1	0.170000	NM_002956			24	22		695	677	0		1	1		0	0	105	0		9.999995e-01	9.543321e-01	0	7	0	141	0	24	695
CLIP1	6249	broad.mit.edu	37	12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000540338.1	-	10	1752	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	571					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)			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)		TTCAGAGAAGTTATTTCTCTC	0.468																																						ENST00000540338.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1711-1713)Act>Cct		CAP-GLY domain containing linker protein 1							177.0	193.0	188.0					12																	122826040		2203	4300	6503	SO:0001583	missense	6249	0	0					g.chr12:122826040T>G		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.1711A>C	chr12.hg19:g.122826040T>G	ENSP00000439093:p.Thr571Pro	0					CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P	p.T571P			0	1	1	1.988890	P30622	CLIP1_HUMAN		10	1752	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	1	1	hg19	c.1711A>C	CCDS58285.1	1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263802	0.23136	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61859	2.7;0.66;0.66;0.68;0.68;0.07	5.25	-1.35	0.09114	5.25	-1.35	0.09114	.	0.997403	0.08131	N	0.993246	T	0.47563	0.1452	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.21905	0.062;0.039;0.039;0.023	B;B;B;B	0.29598	0.059;0.104;0.104;0.048	T	0.42982	-0.9419	10	0.31617	T	0.26	0.3462	10.5726	0.45209	0.0:0.4574:0.0:0.5426	.	261;525;560;571	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	261;560;560;405;525;571;494	ENSP00000438743:T261P;ENSP00000303585:T560P;ENSP00000351665:T560P;ENSP00000445531:T525P;ENSP00000439093:T571P;ENSP00000437786:T494P	ENSP00000303585:T560P	T	-	1	0	0	CLIP1	121391993	121391993	0.000000	0.05858	0.118000	0.21660	0.909000	0.53808	-0.323000	0.07997	-0.413000	0.07507	-0.379000	0.06801	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	1		2	4	2	1		1	0	243		243	242	1	2.060000	-20.000000	1	0.170000	NM_002956			322	321		1300	1272	1		1	1		1	0	243	0		1	1	0	27	0	91	0	322	1300
LRP6	4040	broad.mit.edu	37	12	12284915	12284915	+	Silent	SNP	G	G	A	rs1012672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12284915G>A	ENST00000261349.4	-	18	3886	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1270	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)				TAAACCCATCGCACCGCCAAG	0.488													g|||	197	0.0393371	0.0333	0.0533	5008	,	,		15964	0.0159		0.0825	False		,,,				2504	0.0174					ENST00000261349.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85	GRCh37	CM073186	LRP6	M	rs1012672	c.(3808-3810)tgC>tgT		low density lipoprotein receptor-related protein 6		A		166,4240	111.2+/-149.4	3,160,2040	99.0	88.0	92.0		3810	-7.4	0.2	12	dbSNP_86	92	654,7946	166.4+/-218.3	28,598,3674	no	coding-synonymous	LRP6	NM_002336.2		31,758,5714	AA,AG,GG		7.6047,3.7676,6.3048		1270/1614	12284915	820,12186	2203	4300	6503	SO:0001819	synonymous_variant	4040	7065	121412	71				g.chr12:12284915G>A	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.3810C>T	chr12.hg19:g.12284915G>A		0					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	p.C1270C	NM_002336.2	NP_002327.2	1	2	3	2.002308	O75581	LRP6_HUMAN		18	3886	-		Prostate(47;0.0865)	Q17RZ2	Silent	SNP	ENST00000261349.4	1	0	hg19	c.3810C>T	CCDS8647.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-1.117333	0	0.170000				72	70		279	270	1		1	1		0	0	80	0		1	9.999124e-01	0	14	0	41	0	72	279
CLIP1	6249	broad.mit.edu	37	12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000540338.1	-	3	769	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D|CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	243	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				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)			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)		TAACTCCACGCCACACCACTC	0.502																																						ENST00000540338.1	1.000000	0.440000	9.900000e-01	5.900000e-01	0.770000	0.779081	0.770000	1.000000																										0				60						c.(727-729)gGc>gAc		CAP-GLY domain containing linker protein 1							182.0	117.0	139.0					12																	122848584		2203	4300	6503	SO:0001583	missense	6249	0	0					g.chr12:122848584C>T		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.728G>A	chr12.hg19:g.122848584C>T	ENSP00000439093:p.Gly243Asp	0					CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D|CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D	p.G243D			0	1	1	1.988890	P30622	CLIP1_HUMAN		3	769	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	1	1	hg19	c.728G>A	CCDS58285.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.350966	0.95830	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.81	5.81	0.92471	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.98883	4.36	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	0.96244	0.9178	10	0.87932	D	0	-13.7061	20.0812	0.97776	0.0:1.0:0.0:0.0	.	243;243;243;243	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	D	243;243;88;243;243;243;243	ENSP00000303585:G243D;ENSP00000351665:G243D;ENSP00000445531:G243D;ENSP00000439093:G243D;ENSP00000437786:G243D;ENSP00000441409:G243D	ENSP00000303585:G243D	G	-	2	0	0	CLIP1	121414537	121414537	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.664000	0.83830	2.752000	0.94435	0.557000	0.71058	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-17.814490	1	0.170000	NM_002956			14	13		199	195	1		1	1		0	0	46	0		9.997455e-01	9.968212e-01	0	17	0	123	0	14	199
CLIP1	6249	broad.mit.edu	37	12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000540338.1	-	2	387	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S|CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				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)			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)		GTAAATATGCCCTTTAAAGGT	0.507																																						ENST00000540338.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(346-348)Ggc>Agc		CAP-GLY domain containing linker protein 1							112.0	102.0	105.0					12																	122862247		2203	4300	6503	SO:0001583	missense	6249	0	0					g.chr12:122862247C>T		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.346G>A	chr12.hg19:g.122862247C>T	ENSP00000439093:p.Gly116Ser	0					CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S	p.G116S			0	1	1	1.988890	P30622	CLIP1_HUMAN		2	387	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	1	1	hg19	c.346G>A	CCDS58285.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.823363	0.96989	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.81	5.81	0.92471	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.99794	4.785	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	0.99023	1.0818	10	0.87932	D	0	-16.0398	20.0912	0.97820	0.0:1.0:0.0:0.0	.	116;116;116;116	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	S	116	ENSP00000303585:G116S;ENSP00000351665:G116S;ENSP00000445531:G116S;ENSP00000439093:G116S;ENSP00000437786:G116S;ENSP00000441409:G116S	ENSP00000303585:G116S	G	-	1	0	0	CLIP1	121428200	121428200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.696000	0.84270	2.746000	0.94184	0.591000	0.81541	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_002956			116	114		429	412	1		1	1		0	0	114	0		1	9.999999e-01	0	21	0	64	0	116	429
ZCCHC8	55596	broad.mit.edu	37	12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	rs111823200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000336229.4	-	14	1611	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	494	Pro-rich.				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)			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)		GGGAGTCAGCGGCGGGGTGCC	0.577													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17002	0.0		0.0	False		,,,				2504	0.0					ENST00000336229.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1480-1482)cCg>cTg		zinc finger, CCHC domain containing 8		G	LEU/PRO	31,4269		1,29,2120	51.0	59.0	56.0		1481	5.1	0.1	12	dbSNP_132	56	0,8542		0,0,4271	yes	missense	ZCCHC8	NM_017612.3	98	1,29,6391	AA,AG,GG		0.0,0.7209,0.2414	probably-damaging	494/708	122958687	31,12811	2150	4271	6421	SO:0001583	missense	55596	85	118888	52				g.chr12:122958687G>A	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.1481C>T	chr12.hg19:g.122958687G>A	ENSP00000337313:p.Pro494Leu	0					ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L	p.P494L	NM_017612.3	NP_060082.2	0	1	1	1.988890	Q6NZY4	ZCHC8_HUMAN		14	1611	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	1	1	hg19	c.1481C>T		1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	24.5	4.536879	0.85812	0.007209	0.0	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.57436	0.73;0.73;0.7;0.4	5.96	5.07	0.68467	5.96	5.07	0.68467	.	0.047509	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.54754	-0.8246	10	0.66056	D	0.02	-8.9204	15.2854	0.73826	0.0671:0.0:0.9328:0.0	.	494	Q6NZY4	ZCHC8_HUMAN	L	256;256;494;105;105	ENSP00000441423:P256L;ENSP00000438993:P256L;ENSP00000337313:P494L;ENSP00000440028:P105L	ENSP00000337313:P494L	P	-	2	0	0	ZCCHC8	121524640	121524640	1.000000	0.71417	0.090000	0.20809	0.751000	0.42716	6.898000	0.75676	1.531000	0.49152	0.650000	0.86243	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-2.991724	1	0.170000	NM_017612			76	72		311	288	1		1	1		0	0	73	0		1	1	0	47	0	95	0	76	311
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000336229.4	-	14	1579	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000543897.1_Silent_p.V245V|ZCCHC8_ENST00000536306.1_Silent_p.V245V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483	Pro-rich.				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)			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)		GAGGGGTGAAGACGGGTGGAG	0.587																																						ENST00000336229.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1447-1449)gtC>gtT		zinc finger, CCHC domain containing 8							50.0	57.0	55.0					12																	122958719		2100	4229	6329	SO:0001819	synonymous_variant	55596	0	0					g.chr12:122958719G>A	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.1449C>T	chr12.hg19:g.122958719G>A		0					ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000543897.1_Silent_p.V245V|ZCCHC8_ENST00000536306.1_Silent_p.V245V	p.V483V	NM_017612.3	NP_060082.2	0	1	1	1.988890	Q6NZY4	ZCHC8_HUMAN		14	1579	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	1	1	hg19	c.1449C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_017612			68	61		290	272	1		1	1		0	0	92	0		1	1	0	31	0	109	0	68	290
ZCCHC8	55596	broad.mit.edu	37	12	122962754	122962754	+	Splice_Site	SNP	G	G	A	rs201799696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000336229.4	-	12	1356	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V|ZCCHC8_ENST00000543897.1_Splice_Site_p.A171V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	409					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)			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)		TCTATTTACCGCTTGGAAGTT	0.378																																						ENST00000336229.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999540	0.990000	1.000000																										0				23						c.(1225-1227)gCg>gTg		zinc finger, CCHC domain containing 8		G	VAL/ALA	0,3778		0,0,1889	61.0	55.0	57.0		1226	2.0	0.6	12		57	1,8221		0,1,4110	yes	missense-near-splice	ZCCHC8	NM_017612.3	64	0,1,5999	AA,AG,GG		0.0122,0.0,0.0083	benign	409/708	122962754	1,11999	1889	4111	6000	SO:0001630	splice_region_variant	55596	1	120672	27				g.chr12:122962754G>A	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.1227+1C>T	chr12.hg19:g.122962754G>A		0					ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V|ZCCHC8_ENST00000543897.1_Splice_Site_p.A171V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V	p.A409V	NM_017612.3	NP_060082.2	0	1	1	1.988890	Q6NZY4	ZCHC8_HUMAN		12	1356	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Splice_Site	SNP	ENST00000336229.4	1	0	hg19	c.1226C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376856	0.42105	0.0	1.22E-4	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.46451	0.89;0.89;0.87;0.93	5.81	2.05	0.26809	5.81	2.05	0.26809	.	0.932856	0.09295	N	0.821737	T	0.29458	0.0734	L	0.29908	0.895	0.39455	D	0.967477	B	0.06786	0.001	B	0.04013	0.001	T	0.06679	-1.0813	10	0.36615	T	0.2	0.1657	6.4821	0.22069	0.255:0.0:0.6284:0.1166	.	409	Q6NZY4	ZCHC8_HUMAN	V	171;171;409;20;20;171;171	ENSP00000441423:A171V;ENSP00000438993:A171V;ENSP00000337313:A409V;ENSP00000440028:A20V	ENSP00000337313:A409V	A	-	2	0	0	ZCCHC8	121528707	121528707	0.110000	0.22057	0.637000	0.29366	0.883000	0.51084	0.314000	0.19432	0.121000	0.18284	0.555000	0.69702	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-11.386690	1	0.170000	NM_017612	Missense_Mutation		11	11		31	31	1		1	1		0	0	11	0		9.990785e-01	9.999551e-01	0	10	0	56	0	11	31
KNTC1	9735	broad.mit.edu	37	12	123026646	123026646	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	ENST00000333479.7	+	6	672	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_ENST00000450485.2_Silent_p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	165					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				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)		TTTGTATTACAAACCTTCAGC	0.239																																						ENST00000333479.7	1.000000	0.560000	1	9.000000e-01	0.990000	0.953706	0.990000	1.000000																										0				72						c.(493-495)acA>acG		kinetochore associated 1							35.0	34.0	34.0					12																	123026646		1779	4053	5832	SO:0001819	synonymous_variant	9735	1	119564	15				g.chr12:123026646A>G		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.495A>G	chr12.hg19:g.123026646A>G		0					KNTC1_ENST00000450485.2_Silent_p.T165T	p.T165T	NM_014708.4	NP_055523.1	0	1	1	1.988890	P50748	KNTC1_HUMAN		6	672	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	0	1	hg19	c.495A>G	CCDS45002.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.239	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-11.431680	1	0.170000				5	5		34	31	0		1	0		0	0	8	0		9.282655e-01	2.214089e-01	0	1	0	5	0	5	34
KNTC1	9735	broad.mit.edu	37	12	123072361	123072361	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000333479.7	+	39	4011	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					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)				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)		TGGTTGGTTCATTTGGTACCT	0.418																																						ENST00000333479.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999836	0.990000	1.000000																										0				72						c.(3832-3834)tcA>tcG		kinetochore associated 1							138.0	123.0	127.0					12																	123072361		1871	4121	5992	SO:0001819	synonymous_variant	9735	0	0					g.chr12:123072361A>G		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.3834A>G	chr12.hg19:g.123072361A>G		0					KNTC1_ENST00000450485.2_Intron	p.S1278S	NM_014708.4	NP_055523.1	0	1	1	1.988890	P50748	KNTC1_HUMAN		39	4011	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	1	1	hg19	c.3834A>G	CCDS45002.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				26	26		143	141	1		1	0		0	0	23	0		9.999999e-01	6.952067e-01	0	1	0	14	0	26	143
LRP6	4040	broad.mit.edu	37	12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000261349.4	-	11	2388	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	771	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)			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)				GTCTATCTTAGGTTTTCCACC	0.358																																						ENST00000261349.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2311-2313)cCt>cAt		low density lipoprotein receptor-related protein 6							117.0	106.0	110.0					12																	12312866		2203	4300	6503	SO:0001583	missense	4040	0	0					g.chr12:12312866G>T	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.2312C>A	chr12.hg19:g.12312866G>T	ENSP00000261349:p.Pro771His	0					LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	p.P771H	NM_002336.2	NP_002327.2	1	2	3	2.002308	O75581	LRP6_HUMAN		11	2388	-		Prostate(47;0.0865)	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	1	1	hg19	c.2312C>A	CCDS8647.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311587	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96685	-4.09;-4.09	5.67	5.67	0.87782	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.98701	0.9564	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98922	1.0784	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	771;771	F5H7J9;O75581	.;LRP6_HUMAN	H	771	ENSP00000261349:P771H;ENSP00000442472:P771H	ENSP00000261349:P771H	P	-	2	0	0	LRP6	12204133	12204133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-3.148174	1	0.170000				88	88		456	448	1		1	1		0	0	100	0		1	9.865396e-01	0	10	0	27	0	88	456
KNTC1	9735	broad.mit.edu	37	12	123082326	123082326	+	Silent	SNP	G	G	A	rs548835839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000333479.7	+	44	4581	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1468					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)				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)		TCATTGAAACGCTGCTCCACA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17502	0.001		0.0	False		,,,				2504	0.0					ENST00000333479.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4402-4404)acG>acA		kinetochore associated 1							97.0	95.0	96.0					12																	123082326		2048	4209	6257	SO:0001819	synonymous_variant	9735	27	120990	45				g.chr12:123082326G>A		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.4404G>A	chr12.hg19:g.123082326G>A		0					KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	p.T1468T	NM_014708.4	NP_055523.1	0	1	1	1.988890	P50748	KNTC1_HUMAN		44	4581	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	1	1	hg19	c.4404G>A	CCDS45002.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.962137	1	0.170000				79	77		289	285	1		1	1		0	0	60	0		1	9.458073e-01	0	5	0	15	0	79	289
CCDC62	84660	broad.mit.edu	37	12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392440.2_5'Flank	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	83					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373																																						ENST00000253079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(247-249)Act>Gct		coiled-coil domain containing 62							88.0	82.0	84.0					12																	123265728		2203	4300	6503	SO:0001583	missense	84660	0	0					g.chr12:123265728A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.247A>G	chr12.hg19:g.123265728A>G	ENSP00000253079:p.Thr83Ala	0					CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A	p.T83A	NM_201435.4	NP_958843.2	0	1	1	1.988890	Q6P9F0	CCD62_HUMAN		3	591	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	1	1	hg19	c.247A>G	CCDS9238.1	1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236661	0.58886	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.30714	1.52;1.52	5.5	4.33	0.51752	5.5	4.33	0.51752	.	0.307141	0.28499	N	0.015125	T	0.21801	0.0525	L	0.41236	1.265	0.80722	D	1	B;P	0.37207	0.4;0.587	B;B	0.36464	0.173;0.225	T	0.02603	-1.1135	10	0.09084	T	0.74	-10.1062	9.9655	0.41721	0.8481:0.0:0.0:0.1519	.	83;83	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	A	83	ENSP00000253079:T83A;ENSP00000376236:T83A	ENSP00000253079:T83A	T	+	1	0	0	CCDC62	121831681	121831681	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.664000	0.61540	0.891000	0.36235	0.528000	0.53228	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_032573			60	59		262	258	1		1	0		0	0	57	0		1	3.591643e-02	0	1	0	1	0	60	262
CCDC62	84660	broad.mit.edu	37	12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	656					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517																																						ENST00000253079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1966-1968)Atc>Gtc		coiled-coil domain containing 62							110.0	95.0	100.0					12																	123297931		2203	4300	6503	SO:0001583	missense	84660	0	0					g.chr12:123297931A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1966A>G	chr12.hg19:g.123297931A>G	ENSP00000253079:p.Ile656Val	0					CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V	p.I656V	NM_201435.4	NP_958843.2	0	1	1	1.988890	Q6P9F0	CCD62_HUMAN		11	2310	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	1	1	hg19	c.1966A>G	CCDS9238.1	1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870432	0.33069	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.45668	1.47;1.47;0.89;0.89	5.56	-2.86	0.05717	5.56	-2.86	0.05717	.	0.529195	0.17425	N	0.174662	T	0.26448	0.0646	L	0.31926	0.97	0.25412	N	0.988349	B;B;B	0.15930	0.01;0.015;0.008	B;B;B	0.19946	0.02;0.027;0.019	T	0.16660	-1.0395	10	0.38643	T	0.18	-2.8178	8.1127	0.30924	0.3161:0.5281:0.1558:0.0	.	656;417;656	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	V	656;656;417;417	ENSP00000253079:I656V;ENSP00000376236:I656V;ENSP00000445045:I417V;ENSP00000376235:I417V	ENSP00000253079:I656V	I	+	1	0	0	CCDC62	121863884	121863884	0.909000	0.30893	0.904000	0.35570	0.697000	0.40408	0.254000	0.18314	-0.376000	0.07943	0.528000	0.53228	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_032573			65	65		281	278	1		1			0	0	75	0		1	0	0	0	0	0	0	65	281
LRP6	4040	broad.mit.edu	37	12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000261349.4	-	6	1127	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	351	Beta-propeller 2.				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)			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)				AGAACAATGTCTGTAAAATCT	0.423																																						ENST00000261349.4	1.000000	0.550000	9.700000e-01	6.600000e-01	0.790000	0.806330	0.790000	1.000000																										0				85						c.(1051-1053)Gac>Aac		low density lipoprotein receptor-related protein 6							135.0	124.0	127.0					12																	12334299		2203	4300	6503	SO:0001583	missense	4040	1	121412	34				g.chr12:12334299C>T	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.1051G>A	chr12.hg19:g.12334299C>T	ENSP00000261349:p.Asp351Asn	0					LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	p.D351N	NM_002336.2	NP_002327.2	1	2	3	2.002308	O75581	LRP6_HUMAN		6	1127	-		Prostate(47;0.0865)	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	1	1	hg19	c.1051G>A	CCDS8647.1	0	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619377	0.66787	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	5.82	5.82	0.92795	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.93621	0.7963	L	0.55990	1.75	0.80722	D	1	D;P	0.71674	0.998;0.721	D;B	0.66351	0.943;0.32	D	0.90785	0.4682	10	0.22109	T	0.4	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	351;351	F5H7J9;O75581	.;LRP6_HUMAN	N	351	ENSP00000261349:D351N;ENSP00000442472:D351N	ENSP00000261349:D351N	D	-	1	0	0	LRP6	12225566	12225566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.752000	0.94435	0.655000	0.94253	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-7.412922	1	0.170000				33	33		465	461	1		1	1		0	0	109	0		1	7.540128e-01	0	5	0	35	0	33	465
HIP1R	9026	broad.mit.edu	37	12	123339642	123339642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	273					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662																																						ENST00000253083.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(817-819)ttC>ttT		huntingtin interacting protein 1 related							88.0	96.0	94.0					12																	123339642		2203	4300	6503	SO:0001819	synonymous_variant	9026	0	0					g.chr12:123339642C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.819C>T	chr12.hg19:g.123339642C>T		0						p.F273F	NM_003959.1	NP_003950.1	0	1	1	1.988890	O75146	HIP1R_HUMAN		10	944	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	1	1	hg19	c.819C>T	CCDS31922.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	1	0	1		2	2	2	0		0	0	139		139	134	1	2.060000	-20.000000	1	0.170000	NM_003959			171	167		619	609	0		1	1		0	0	139	0		1	1	0	41	0	72	0	171	619
VPS37B	79720	broad.mit.edu	37	12	123351959	123351959	+	Missense_Mutation	SNP	G	G	A	rs559161851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123351959G>A	ENST00000267202.2	-	4	943	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	188	Pro-rich.				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)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TAGGGAAGGGGGGCGGTAGGT	0.701																																						ENST00000267202.2	0.610000	0.220000	5.000000e-01	2.900000e-01	0.390000	0.404813	0.390000	0.390000																										0				5						c.(562-564)Ccc>Tcc		vacuolar protein sorting 37 homolog B (S. cerevisiae)							29.0	35.0	33.0					12																	123351959		2200	4290	6490	SO:0001583	missense	79720	0	0					g.chr12:123351959G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.562C>T	chr12.hg19:g.123351959G>A	ENSP00000267202:p.Pro188Ser	0					RP11-463O12.3_ENST00000537827.2_lincRNA	p.P188S	NM_024667.2	NP_078943.1	0	1	1	1.988890	Q9H9H4	VP37B_HUMAN		4	943	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			Missense_Mutation	SNP	ENST00000267202.2	1	1	hg19	c.562C>T	CCDS9239.1	0	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344724	0.11126	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.59364	0.27;0.3	5.33	-6.21	0.02065	5.33	-6.21	0.02065	.	0.673292	0.14633	N	0.307669	T	0.42653	0.1212	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.40728	T	0.16	-3.6739	5.8472	0.18673	0.1619:0.4145:0.3326:0.091	.	188	Q9H9H4	VP37B_HUMAN	S	188;186	ENSP00000267202:P188S;ENSP00000446075:P186S	ENSP00000267202:P188S	P	-	1	0	0	VPS37B	121917912	121917912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.946000	0.03677	-0.176000	0.13171	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	0	0	0		2	2	2	0		0	0	56		56	54	1	2.060000	-13.558220	1	0.170000	NM_024667			14	14		413	403	0		1	1		0	0	56	0		9.997204e-01	8.242676e-01	0	6	0	90	0	14	413
VPS37B	79720	broad.mit.edu	37	12	123352062	123352062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	153	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				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)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562																																						ENST00000267202.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(457-459)cgG>cgA		vacuolar protein sorting 37 homolog B (S. cerevisiae)							122.0	127.0	125.0					12																	123352062		2203	4300	6503	SO:0001819	synonymous_variant	79720	0	0					g.chr12:123352062C>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.459G>A	chr12.hg19:g.123352062C>T		0					RP11-463O12.3_ENST00000537827.2_lincRNA	p.R153R	NM_024667.2	NP_078943.1	0	1	1	1.988890	Q9H9H4	VP37B_HUMAN		4	840	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			Silent	SNP	ENST00000267202.2	1	1	hg19	c.459G>A	CCDS9239.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	1	0	1		2	2	2	0		0	0	181		181	179	1	2.060000	-20.000000	1	0.170000	NM_024667			145	142		879	859	1		1	1		0	0	181	0		1	1	0	55	0	89	0	145	879
OGFOD2	79676	broad.mit.edu	37	12	123463318	123463318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463318G>A	ENST00000228922.7	+	6	582	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G124R|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	184							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCACGAGCTCGGGCTGGACGA	0.662																																						ENST00000228922.7			0	0																														0				8						c.(550-552)Ggg>Agg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						12.0	15.0	14.0					12																	123463318		2044	4189	6233	SO:0001583	missense	79676	2	120582	26				g.chr12:123463318G>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.550G>A	chr12.hg19:g.123463318G>A	ENSP00000228922:p.Gly184Arg						ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G124R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R	p.G184R							Q6N063	OGFD2_HUMAN		6	582	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	0	1	hg19	c.550G>A			.	.	.	.	.	.	.	.	.	.	G	20.4	3.979597	0.74360	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89196	-2.48;0.99	5.42	5.42	0.78866	5.42	5.42	0.78866	Prolyl 4-hydroxylase, alpha subunit (1);	0.043908	0.85682	D	0.000000	D	0.95204	0.8445	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95366	0.8460	10	0.62326	D	0.03	-34.5298	19.2243	0.93812	0.0:0.0:1.0:0.0	.	184;124	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	124;20;20;20;20;20;20;20;184;20	ENSP00000380544:G124R;ENSP00000228922:G184R	ENSP00000228922:G184R	G	+	1	0	0	OGFOD2	122029271	122029271	1.000000	0.71417	0.927000	0.36925	0.189000	0.23516	8.018000	0.88722	2.539000	0.85634	0.561000	0.74099	GGG			TCGA-IB-7651-01A-11D-2154-08	0.662	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	0	0	0		2	2	2	0		0	0	23		23	22	1	2.060000	-9.784493	1	0.170000	NM_024623			7	7		164	148	0		1	1		0	0	23	0		9.735378e-01	6.412333e-01	0	4	0	46	0	7	164
OGFOD2	79676	broad.mit.edu	37	12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000228922.7	+	6	645	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	205							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667																																						ENST00000228922.7			0	0																														0				8						c.(613-615)Ctg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						14.0	19.0	17.0					12																	123463381		2093	4216	6309	SO:0001583	missense	79676	0	0					g.chr12:123463381C>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.613C>A	chr12.hg19:g.123463381C>A	ENSP00000228922:p.Leu205Met						ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M	p.L205M							Q6N063	OGFD2_HUMAN		6	645	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	1	1	hg19	c.613C>A			.	.	.	.	.	.	.	.	.	.	C	23.3	4.399435	0.83120	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89415	-2.51;0.78	5.42	4.52	0.55395	5.42	4.52	0.55395	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94865	0.8025	10	0.66056	D	0.02	-20.6502	14.5866	0.68328	0.0:0.9285:0.0:0.0715	.	205;145	Q6N063;Q6N063-2	OGFD2_HUMAN;.	M	145;41;41;41;41;41;41;41;205;41	ENSP00000380544:L145M;ENSP00000228922:L205M	ENSP00000228922:L205M	L	+	1	2	2	OGFOD2	122029334	122029334	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.083000	0.57643	1.253000	0.44018	0.561000	0.74099	CTG			TCGA-IB-7651-01A-11D-2154-08	0.667	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	0	0	0		2	9	2	1		1	0	26		26	18	1	2.060000	-20.000000	1	0.170000	NM_024623			32	28		159	135	1		1	1		1	0	26	0		1	6.867736e-01	0	12	0	48	0	32	159
OGFOD2	79676	broad.mit.edu	37	12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000228922.7	+	6	745	c.713A>C	c.(712-714)aAt>aCt	p.N238T	RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	238	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632																																						ENST00000228922.7			0	0																														0				8						c.(712-714)aAt>aCt		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						26.0	32.0	30.0					12																	123463481		2034	4167	6201	SO:0001583	missense	79676	0	0					g.chr12:123463481A>C	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.713A>C	chr12.hg19:g.123463481A>C	ENSP00000228922:p.Asn238Thr						ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T	p.N238T							Q6N063	OGFD2_HUMAN		6	745	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	1	1	hg19	c.713A>C			.	.	.	.	.	.	.	.	.	.	A	22.4	4.284205	0.80803	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.86366	-2.11;1.02	5.42	5.42	0.78866	5.42	5.42	0.78866	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93291	0.6668	10	0.49607	T	0.09	-23.1009	15.4665	0.75406	1.0:0.0:0.0:0.0	.	238;178	Q6N063;Q6N063-2	OGFD2_HUMAN;.	T	178;74;74;74;74;74;74;74;238;74	ENSP00000380544:N178T;ENSP00000228922:N238T	ENSP00000228922:N238T	N	+	2	0	0	OGFOD2	122029434	122029434	1.000000	0.71417	0.194000	0.23346	0.775000	0.43874	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	AAT			TCGA-IB-7651-01A-11D-2154-08	0.632	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_024623			52	51		200	195	1		1	1		0	0	45	0		1	9.999909e-01	0	14	0	56	0	52	200
PITPNM2	57605	broad.mit.edu	37	12	123481078	123481078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481078G>A	ENST00000542749.1	-	11	1772	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A570V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	570					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTAGCACAGGGCATCAAATGC	0.637																																						ENST00000542749.1	1.000000	0.310000	7.500000e-01	4.200000e-01	0.550000	0.590943	0.550000	0.520000																										0				39						c.(1708-1710)gCc>gTc		phosphatidylinositol transfer protein, membrane-associated 2							36.0	36.0	36.0					12																	123481078		2203	4300	6503	SO:0001583	missense	57605	0	0					g.chr12:123481078G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1709C>T	chr12.hg19:g.123481078G>A	ENSP00000437611:p.Ala570Val	0					PITPNM2_ENST00000280562.5_Missense_Mutation_p.A570V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V	p.A570V			1	2	3	2.012185	Q9BZ72	PITM2_HUMAN		11	1772	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	0	1	hg19	c.1709C>T	CCDS9242.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.204959	0.95033	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.215214	0.38326	N	0.001722	T	0.51702	0.1690	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60026	-0.7343	10	0.72032	D	0.01	-33.0557	17.9298	0.88993	0.0:0.0:1.0:0.0	.	570;570	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	570;570;291;570	ENSP00000280562:A570V;ENSP00000322218:A570V;ENSP00000376223:A291V;ENSP00000437611:A570V	ENSP00000280562:A570V	A	-	2	0	0	PITPNM2	122047031	122047031	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.584000	0.98220	2.236000	0.73375	0.561000	0.74099	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	0		26	2	2	1		1	1	39		39	37	1	2.060000	-15.905570	1	0.170000	NM_020845			15	15		323	321	0		0	0		1	0	39	0		4.993783e-02	5.321045e-02	0	0	0	8	0	15	323
PITPNM2	57605	broad.mit.edu	37	12	123481101	123481101	+	Silent	SNP	G	G	A	rs374549059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000542749.1	-	11	1749	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000280562.5_Silent_p.V562V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	562					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGATGCCCCCGACGCAGTCCC	0.642																																						ENST00000542749.1	1.000000	0.330000	7.600000e-01	4.300000e-01	0.560000	0.604361	0.560000	0.540000																										0				39						c.(1684-1686)gtC>gtT		phosphatidylinositol transfer protein, membrane-associated 2							34.0	34.0	34.0					12																	123481101		2202	4299	6501	SO:0001819	synonymous_variant	57605	0	0					g.chr12:123481101G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1686C>T	chr12.hg19:g.123481101G>A		0					PITPNM2_ENST00000280562.5_Silent_p.V562V|PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V	p.V562V			1	2	3	2.012185	Q9BZ72	PITM2_HUMAN		11	1749	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9P271	Silent	SNP	ENST00000542749.1	1	1	hg19	c.1686C>T	CCDS9242.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-16.908780	1	0.170000	NM_020845			16	15		334	330	0		1	0		0	0	55	0		9.999301e-01	9.844747e-02	0	0	0	11	0	16	334
PITPNM2	57605	broad.mit.edu	37	12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000542749.1	-	8	1228	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R389C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	389					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637																																						ENST00000542749.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				39						c.(1165-1167)Cgc>Tgc		phosphatidylinositol transfer protein, membrane-associated 2							51.0	48.0	49.0					12																	123485384		2203	4300	6503	SO:0001583	missense	57605	1	121412	31				g.chr12:123485384G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1165C>T	chr12.hg19:g.123485384G>A	ENSP00000437611:p.Arg389Cys	0					PITPNM2_ENST00000280562.5_Missense_Mutation_p.R389C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000451868.2_5'UTR	p.R389C			1	2	3	2.012185	Q9BZ72	PITM2_HUMAN		8	1228	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	1	1	hg19	c.1165C>T	CCDS9242.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045374	0.36085	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	2.03;2.03;0.84;2.03	4.51	3.6	0.41247	4.51	3.6	0.41247	.	0.826438	0.11094	N	0.600425	T	0.55513	0.1925	L	0.55213	1.73	0.31186	N	0.701536	B;P;P	0.52170	0.007;0.951;0.951	B;P;B	0.51229	0.002;0.663;0.326	T	0.60495	-0.7252	10	0.72032	D	0.01	-14.2141	13.851	0.63496	0.0:0.1552:0.8448:0.0	.	389;389;389	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	389;389;110;389	ENSP00000280562:R389C;ENSP00000322218:R389C;ENSP00000376223:R110C;ENSP00000437611:R389C	ENSP00000280562:R389C	R	-	1	0	0	PITPNM2	122051337	122051337	0.760000	0.28428	0.907000	0.35723	0.291000	0.27294	2.792000	0.47837	1.179000	0.42884	0.561000	0.74099	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.172115	1	0.170000	NM_020845			33	33		157	152	1		1	0		0	0	50	0		1	4.883099e-01	0	0	0	9	0	33	157
PITPNM2	57605	broad.mit.edu	37	12	123494407	123494407	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000542749.1	-	4	696	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000320201.4_Silent_p.I211I|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.I211I|PITPNM2_ENST00000546049.1_Silent_p.I211I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	211					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582																																						ENST00000542749.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(631-633)atC>atT		phosphatidylinositol transfer protein, membrane-associated 2							178.0	151.0	160.0					12																	123494407		2203	4300	6503	SO:0001819	synonymous_variant	57605	0	0					g.chr12:123494407G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.633C>T	chr12.hg19:g.123494407G>A		0					PITPNM2_ENST00000280562.5_Silent_p.I211I|PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Silent_p.I211I|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR	p.I211I			1	2	3	2.012185	Q9BZ72	PITM2_HUMAN		4	696	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9P271	Silent	SNP	ENST00000542749.1	1	1	hg19	c.633C>T	CCDS9242.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000	NM_020845			114	113		574	564	1		1	1		0	0	155	0		1	7.372475e-01	0	6	0	9	0	114	574
PITPNM2	57605	broad.mit.edu	37	12	123498455	123498455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123498455G>T	ENST00000542749.1	-	2	276	c.213C>A	c.(211-213)agC>agA	p.S71R	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S71R|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	71					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGAACCAGCTGGGAATGT	0.632																																						ENST00000542749.1	1.000000	0.220000	5.800000e-01	3.000000e-01	0.410000	0.467275	0.410000	0.380000																										0				39						c.(211-213)agC>agA		phosphatidylinositol transfer protein, membrane-associated 2							137.0	111.0	119.0					12																	123498455		2203	4300	6503	SO:0001583	missense	57605	0	0					g.chr12:123498455G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.213C>A	chr12.hg19:g.123498455G>T	ENSP00000437611:p.Ser71Arg	0					PITPNM2_ENST00000280562.5_Missense_Mutation_p.S71R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR	p.S71R			1	2	3	2.012185	Q9BZ72	PITM2_HUMAN		2	276	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	1	1	hg19	c.213C>A	CCDS9242.1	0	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095939	0.76870	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.44881	0.91;0.91;0.91	4.42	3.52	0.40303	4.42	3.52	0.40303	START-like domain (1);	0.301301	0.34291	N	0.004093	T	0.47192	0.1432	L	0.50993	1.605	0.80722	D	1	P;B;P	0.50272	0.933;0.391;0.603	P;P;P	0.53313	0.723;0.579;0.521	T	0.43032	-0.9416	10	0.54805	T	0.06	-12.4612	9.8786	0.41220	0.1677:0.0:0.8323:0.0	.	71;71;71	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	R	71	ENSP00000280562:S71R;ENSP00000322218:S71R;ENSP00000437611:S71R	ENSP00000280562:S71R	S	-	3	2	2	PITPNM2	122064408	122064408	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	4.645000	0.61404	0.977000	0.38444	0.655000	0.94253	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	1		2	2	2	1		1	0	70		70	69	1	2.060000	-3.831092	1	0.170000	NM_020845			12	12		353	349	0		1	0		1	0	70	0		9.990926e-01	6.803460e-02	0	0	0	12	0	12	353
SBNO1	55206	broad.mit.edu	37	12	123794273	123794273	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000602398.1	-	26	3553	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_ENST00000267176.4_Silent_p.Y1141Y|SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1142					regulation of transcription, DNA-templated (GO:0006355)					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)		TTCCCATATCATATCTTCCAT	0.398																																						ENST00000602398.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998799	0.990000	1.000000																										0				62						c.(3424-3426)taT>taC		strawberry notch homolog 1 (Drosophila)							134.0	130.0	131.0					12																	123794273		2203	4300	6503	SO:0001819	synonymous_variant	55206	0	0					g.chr12:123794273A>G	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.3426T>C	chr12.hg19:g.123794273A>G		0					SBNO1_ENST00000267176.4_Silent_p.Y1141Y|SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y	p.Y1142Y			1	2	3	2.012185	A3KN83	SBNO1_HUMAN		26	3553	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	1	1	hg19	c.3426T>C	CCDS53844.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	0	1		16	6	2	1		1	1	106		106	105	1	2.060000	-19.106150	1	0.170000	NM_018183			55	51		449	439	1		1	1		1	0	106	0		9.999996e-01	9.828512e-01	0	17	0	97	0	55	449
SBNO1	55206	broad.mit.edu	37	12	123814975	123814975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000602398.1	-	9	1252	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SBNO1_ENST00000267176.4_Silent_p.S374S|SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	375					regulation of transcription, DNA-templated (GO:0006355)					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)		CCTTATTTAACGAATGAACCA	0.294																																						ENST00000602398.1	1.000000	0.630000	1	8.700000e-01	0.990000	0.952766	0.990000	1.000000																										0				62						c.(1123-1125)tcG>tcA		strawberry notch homolog 1 (Drosophila)							72.0	72.0	72.0					12																	123814975		2198	4300	6498	SO:0001819	synonymous_variant	55206	2	121378	31				g.chr12:123814975C>T	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.1125G>A	chr12.hg19:g.123814975C>T		0					SBNO1_ENST00000267176.4_Silent_p.S374S|SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S	p.S375S			1	2	3	2.012185	A3KN83	SBNO1_HUMAN		9	1252	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	1	1	hg19	c.1125G>A	CCDS53844.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	1	0	1		2	2	2	0		0	0	36		36	34	1	2.060000	-17.130760	1	0.170000	NM_018183			11	11		103	97	0		1	1		0	0	36	0		9.981148e-01	9.204973e-01	0	19	0	25	0	11	103
SETD8	387893	broad.mit.edu	37	12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	301	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542																																						ENST00000402868.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(778-780)gCt>gTt		SET domain containing (lysine methyltransferase) 8							52.0	48.0	49.0					12																	123889552		2203	4297	6500	SO:0001583	missense	387893	0	0					g.chr12:123889552C>T	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.779C>T	chr12.hg19:g.123889552C>T	ENSP00000384629:p.Ala260Val	0					SETD8_ENST00000330479.4_Missense_Mutation_p.A260V	p.A260V			1	2	3	2.012185	Q9NQR1	SETD8_HUMAN		7	1205	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	1	1	hg19	c.779C>T	CCDS9247.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708942	0.89018	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85773	-2.03;-2.03;-2.03	5.02	5.02	0.67125	5.02	5.02	0.67125	SET domain (3);	0.046821	0.85682	D	0.000000	T	0.78285	0.4259	L	0.31804	0.96	0.80722	D	1	P;P	0.36438	0.553;0.498	B;B	0.30943	0.122;0.074	T	0.80202	-0.1480	10	0.54805	T	0.06	-12.6544	18.7023	0.91625	0.0:1.0:0.0:0.0	.	301;260	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	260;260;251	ENSP00000384629:A260V;ENSP00000332995:A260V;ENSP00000413811:A251V	ENSP00000332995:A260V	A	+	2	0	0	SETD8	122455505	122455505	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.050000	0.71063	2.492000	0.84095	0.655000	0.94253	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	1	0	1		2	2	2	0		0	0	56		56	57	1	2.060000	-20.000000	1	0.170000	NM_020382			45	43		237	213	1		1	1		0	0	56	0		1	9.645747e-01	0	6	0	25	0	45	237
SNRNP35	11066	broad.mit.edu	37	12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	154	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517																																						ENST00000526639.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(460-462)aGa>aTa		small nuclear ribonucleoprotein 35kDa (U11/U12)							57.0	68.0	64.0					12																	123950548		2203	4300	6503	SO:0001583	missense	11066	0	0					g.chr12:123950548G>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.461G>T	chr12.hg19:g.123950548G>T	ENSP00000432595:p.Arg154Ile	0					SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	p.R154I	NM_022717.3	NP_073208.1	1	2	3	2.012185	Q16560	U1SBP_HUMAN		2	1040	+			A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	1	1	hg19	c.461G>T	CCDS9249.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.245181	0.95272	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75477	-0.94;-0.94;-0.94	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86936	0.2076	10	0.87932	D	0	-15.4667	20.034	0.97549	0.0:0.0:1.0:0.0	.	159;154	Q16560-2;Q16560	.;U1SBP_HUMAN	I	154;159;154	ENSP00000432595:R154I;ENSP00000403310:R159I;ENSP00000340774:R154I	ENSP00000340774:R154I	R	+	2	0	0	SNRNP35	122516501	122516501	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.389000	0.97243	2.753000	0.94483	0.555000	0.69702	AGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_007020			106	103		469	454	1		1	1		0	0	91	0		1	1	0	39	0	87	0	106	469
RILPL1	353116	broad.mit.edu	37	12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000376874.4	-	4	1031	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	266					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607																																						ENST00000376874.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(796-798)Cct>Tct		Rab interacting lysosomal protein-like 1							34.0	38.0	37.0					12																	123983096		2085	4218	6303	SO:0001583	missense	353116	0	0					g.chr12:123983096G>A	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.796C>T	chr12.hg19:g.123983096G>A	ENSP00000366070:p.Pro266Ser	0					RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	p.P266S	NM_178314.3	NP_847884.2	1	2	3	2.012185	Q5EBL4	RIPL1_HUMAN		4	1031	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	1	1	hg19	c.796C>T	CCDS45006.1	1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333126	0.24167	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.19394	2.15;2.15	5.54	3.48	0.39840	5.54	3.48	0.39840	.	0.650449	0.15025	N	0.284775	T	0.13372	0.0324	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.23249	0.002;0.049;0.082	B;B;B	0.25140	0.006;0.026;0.058	T	0.06991	-1.0796	10	0.09590	T	0.72	-20.6686	3.4791	0.07595	0.1194:0.1558:0.5535:0.1713	.	242;266;115	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	S	266;114	ENSP00000366070:P266S;ENSP00000345874:P114S	ENSP00000345874:P114S	P	-	1	0	0	RILPL1	122549049	122549049	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	2.138000	0.42140	1.303000	0.44873	0.555000	0.69702	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-20.000000	1	0.170000	NM_178314			53	48		273	258	1		1	1		0	0	57	0		1	9.998902e-01	0	15	0	57	0	53	273
EIF2B1	1967	broad.mit.edu	37	12	124115056	124115056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124115056G>A	ENST00000424014.2	-	3	348	c.140C>T	c.(139-141)gCg>gTg	p.A47V	EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V|EIF2B1_ENST00000543940.1_5'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	47					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTGAGATTCGCCCTCAGACC	0.537																																						ENST00000424014.2	1.000000	0.120000	4.800000e-01	1.900000e-01	0.300000	0.370707	0.300000	0.270000																										0				10						c.(139-141)gCg>gTg		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							102.0	72.0	82.0					12																	124115056		2203	4300	6503	SO:0001583	missense	1967	0	0					g.chr12:124115056G>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.140C>T	chr12.hg19:g.124115056G>A	ENSP00000416250:p.Ala47Val	0					EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V	p.A47V	NM_001414.3	NP_001405.1	1	2	3	2.012185	Q14232	EI2BA_HUMAN		3	348	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	0	1	hg19	c.140C>T	CCDS31924.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.469841|2.469841	0.43839|0.43839	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92495|.	-3.05;-3.05;-3.05;-3.05|.	5.25|5.25	5.25|5.25	0.73442|0.73442	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.162985|.	0.53938|.	D|.	0.000048|.	T|.	0.36468|.	0.0968|.	N|N	0.11064|0.11064	0.09|0.09	0.37228|0.37228	D|D	0.905578|0.905578	D;P;B|.	0.56968|.	0.978;0.836;0.033|.	B;B;B|.	0.34452|.	0.183;0.036;0.002|.	T|.	0.38023|.	-0.9680|.	10|.	0.33940|.	T|.	0.23|.	-19.2572|-19.2572	10.5723|10.5723	0.45206|0.45206	0.0:0.2524:0.6136:0.134|0.0:0.2524:0.6136:0.134	.|.	47;34;47|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	V|X	47;47;34;47|63	ENSP00000416250:A47V;ENSP00000228958:A47V;ENSP00000438060:A34V;ENSP00000444183:A47V|.	ENSP00000228958:A47V|.	A|R	-|-	2|1	0|2	0|2	EIF2B1|EIF2B1	122681009|122681009	122681009|122681009	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.888000|0.888000	0.51559|0.51559	3.160000|3.160000	0.50739|0.50739	2.459000|2.459000	0.83118|0.83118	0.462000|0.462000	0.41574|0.41574	GCG|CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.808653	1	0.170000	NM_001414			6	6		256	248	0		1	1		0	0	55	0		9.615416e-01	9.399344e-01	0	13	0	205	0	6	256
ATP6V0A2	23545	broad.mit.edu	37	12	124221607	124221607	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	276					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|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)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502																																						ENST00000330342.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(826-828)gTa>gCa		ATPase, H+ transporting, lysosomal V0 subunit a2							116.0	96.0	103.0					12																	124221607		2203	4300	6503	SO:0001630	splice_region_variant	23545	0	0					g.chr12:124221607T>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.826-1T>C	chr12.hg19:g.124221607T>C		0						p.V276A	NM_012463.3	NP_036595.2	1	2	3	2.012185	Q9Y487	VPP2_HUMAN		9	1075	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A8K026|Q6NUM0	Splice_Site	SNP	ENST00000330342.3	1	0	hg19	c.827T>C	CCDS9254.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955480	0.73902	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87029	-2.2;-2.2	5.68	4.5	0.54988	5.68	4.5	0.54988	.	0.104725	0.64402	D	0.000004	D	0.92476	0.7611	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	D	0.92626	0.6112	10	0.87932	D	0	-33.8503	12.8333	0.57759	0.0:0.0:0.1364:0.8636	.	276;276	Q9Y487;Q8TBM3	VPP2_HUMAN;.	A	276;276;146	ENSP00000332247:V276A;ENSP00000443441:V146A	ENSP00000332247:V276A	V	+	2	0	0	ATP6V0A2	122787560	122787560	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	8.023000	0.88764	0.945000	0.37605	0.482000	0.46254	GTA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_012463	Missense_Mutation		84	84		325	315	1		1	1		0	0	83	0		1	9.996587e-01	0	12	0	36	0	84	325
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A	rs374747661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	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)			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)		ACTGAGAACCGAATCTCTAGG	0.408																																						ENST00000409039.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.994812	0.990000	1.000000																										0				52						c.(139-141)Gaa>Aaa		dynein, axonemal, heavy chain 10		G	LYS/GLU	1,3763		0,1,1881	96.0	86.0	89.0		139	1.7	0.0	12		89	0,8200		0,0,4100	no	missense	DNAH10	NM_207437.3	56	0,1,5981	AA,AG,GG		0.0,0.0266,0.0084	benign	47/4472	124256171	1,11963	1882	4100	5982	SO:0001583	missense	196385	1	120804	29				g.chr12:124256171G>A	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.139G>A	chr12.hg19:g.124256171G>A	ENSP00000386770:p.Glu47Lys	0						p.E47K	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		3	164	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.139G>A	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101325	0.20632	2.66E-4	0.0	ENSG00000197653	ENST00000409039	T	0.22134	1.97	3.85	1.7	0.24286	3.85	1.7	0.24286	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34279	-0.9835	9	0.25106	T	0.35	.	2.7374	0.05244	0.2007:0.0:0.5023:0.297	.	47	Q8IVF4	DYH10_HUMAN	K	47	ENSP00000386770:E47K	ENSP00000386770:E47K	E	+	1	0	0	DNAH10	122822124	122822124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	0.216000	0.20781	0.591000	0.81541	GAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.773450	1	0.170000				12	12		74	72	1		1			0	0	25	0		9.992472e-01	0	0	0	0	0	0	12	74
DNAH10	196385	broad.mit.edu	37	12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	393	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)			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)		GCTCATGGAGCGCATCGCCTG	0.522																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1177-1179)Cgc>Tgc		dynein, axonemal, heavy chain 10							121.0	108.0	112.0					12																	124270422		2203	4300	6503	SO:0001583	missense	196385	0	0					g.chr12:124270422C>T	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.1177C>T	chr12.hg19:g.124270422C>T	ENSP00000386770:p.Arg393Cys	0						p.R393C	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		9	1202	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.1177C>T	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199323	0.79015	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.52	3.53	0.40419	5.52	3.53	0.40419	Dynein heavy chain, domain-1 (1);	0.000000	0.56097	D	0.000025	T	0.76321	0.3971	M	0.90369	3.11	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82989	-0.0183	10	0.87932	D	0	.	14.7437	0.69474	0.4336:0.5664:0.0:0.0	.	393	Q8IVF4	DYH10_HUMAN	C	393	ENSP00000386770:R393C	ENSP00000386770:R393C	R	+	1	0	0	DNAH10	122836375	122836375	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.448000	0.44926	1.397000	0.46682	0.561000	0.74099	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000				71	68		305	300	1		1			0	0	95	0		1	0	0	0	0	0	0	71	305
DNAH10	196385	broad.mit.edu	37	12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A	rs201031616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	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.R501H(1)|p.R319H(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)		GACCCCAAGCGCATTGATGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17264	0.001		0.0	False		,,,				2504	0.0					ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R501H(1)|p.R319H(1)	endometrium(2)	52						c.(1501-1503)cGc>cAc		dynein, axonemal, heavy chain 10							170.0	159.0	163.0					12																	124274538		2203	4300	6503	SO:0001583	missense	196385	2	121412	30				g.chr12:124274538G>A	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.1502G>A	chr12.hg19:g.124274538G>A	ENSP00000386770:p.Arg501His	0						p.R501H	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		11	1527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.1502G>A	CCDS9255.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.22	3.333288	0.60853	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.2	5.2	0.72013	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.251815	0.27068	N	0.021095	T	0.65770	0.2723	M	0.73962	2.25	0.29940	N	0.821176	D	0.71674	0.998	P	0.57548	0.823	T	0.66952	-0.5793	10	0.45353	T	0.12	.	12.4417	0.55629	0.0809:0.0:0.9191:0.0	.	501	Q8IVF4	DYH10_HUMAN	H	501	ENSP00000386770:R501H	ENSP00000386770:R501H	R	+	2	0	0	DNAH10	122840491	122840491	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	4.281000	0.58965	2.446000	0.82766	0.555000	0.69702	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	179		179	178	1	2.060000	-20.000000	1	0.170000				137	137		682	672	1		1			0	0	179	0		1	0	0	0	0	0	0	137	682
DNAH10	196385	broad.mit.edu	37	12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	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)			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)		AAAAGAAAATTTATGAGGTCC	0.443																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2602-2604)atT>atG		dynein, axonemal, heavy chain 10							67.0	70.0	69.0					12																	124289558		2203	4300	6503	SO:0001583	missense	196385	0	0					g.chr12:124289558T>G	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.2604T>G	chr12.hg19:g.124289558T>G	ENSP00000386770:p.Ile868Met	0						p.I868M	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		17	2629	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.2604T>G	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306600	0.40795	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.42	-3.79	0.04320	5.42	-3.79	0.04320	.	0.494884	0.17038	N	0.189451	T	0.33760	0.0874	L	0.57536	1.79	0.28725	N	0.902835	P;P;D	0.59357	0.886;0.819;0.985	P;P;P	0.59595	0.628;0.611;0.86	T	0.31223	-0.9951	10	0.15066	T	0.55	.	12.6907	0.56972	0.0:0.6709:0.1208:0.2083	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	868	ENSP00000386770:I868M	ENSP00000386770:I868M	I	+	3	3	3	DNAH10	122855511	122855511	0.318000	0.24598	0.002000	0.10522	0.182000	0.23217	-0.382000	0.07408	-1.010000	0.03396	-0.491000	0.04670	ATT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000				64	64		276	273	1		1			0	0	59	0		1	0	0	0	0	0	0	64	276
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	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)			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)		TCAGATAGAGGAGTTTGCAAA	0.393																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999204	0.990000	1.000000																										0				52						c.(3586-3588)Gag>Aag		dynein, axonemal, heavy chain 10							161.0	154.0	156.0					12																	124303737		1913	4128	6041	SO:0001583	missense	196385	0	0					g.chr12:124303737G>A	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.3586G>A	chr12.hg19:g.124303737G>A	ENSP00000386770:p.Glu1196Lys	0						p.E1196K	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		22	3611	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.3586G>A	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359278	0.11239	.	.	ENSG00000197653	ENST00000409039	T	0.21191	2.02	5.18	1.15	0.20763	5.18	1.15	0.20763	.	.	.	.	.	T	0.09730	0.0239	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41305	-0.9516	9	0.13470	T	0.59	.	6.9428	0.24502	0.1514:0.2907:0.5579:0.0	.	1196	Q8IVF4	DYH10_HUMAN	K	1196	ENSP00000386770:E1196K	ENSP00000386770:E1196K	E	+	1	0	0	DNAH10	122869690	122869690	0.055000	0.20627	0.000000	0.03702	0.064000	0.16182	0.915000	0.28638	-0.064000	0.13043	0.455000	0.32223	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-11.185380	1	0.170000				16	16		85	85	1		1			0	0	21	0		9.999588e-01	0	0	0	0	0	0	16	85
DNAH10	196385	broad.mit.edu	37	12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T	rs375189808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1501	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)			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)		TCACAACTTCCGGAAGAGGCA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		20574	0.0		0.0	False		,,,				2504	0.001					ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999889	0.990000	1.000000																										0				52						c.(4501-4503)cCg>cTg		dynein, axonemal, heavy chain 10		C	LEU/PRO	1,3689		0,1,1844	92.0	84.0	86.0		4502	6.0	0.7	12		86	1,8179		0,1,4089	no	missense	DNAH10	NM_207437.3	98	0,2,5933	TT,TC,CC		0.0122,0.0271,0.0168	probably-damaging	1501/4472	124320029	2,11868	1845	4090	5935	SO:0001583	missense	196385	9	120768	37				g.chr12:124320029C>T	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.4502C>T	chr12.hg19:g.124320029C>T	ENSP00000386770:p.Pro1501Leu	0						p.P1501L	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		27	4527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.4502C>T	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914796	0.72983	2.71E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.66280	-0.2	6.02	6.02	0.97574	6.02	6.02	0.97574	Dynein heavy chain, domain-2 (1);	0.077772	0.52532	U	0.000069	D	0.89223	0.6654	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92902	0.6340	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1501	Q8IVF4	DYH10_HUMAN	L	1501	ENSP00000386770:P1501L	ENSP00000386770:P1501L	P	+	2	0	0	DNAH10	122885982	122885982	1.000000	0.71417	0.745000	0.31077	0.114000	0.19823	5.784000	0.68990	2.857000	0.98124	0.650000	0.86243	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-12.952600	1	0.170000				18	18		79	79	1		1			0	0	15	0		9.999908e-01	0	0	0	0	0	0	18	79
DNAH10	196385	broad.mit.edu	37	12	124332579	124332579	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1844	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)			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)		CCACCAAGGACCTGGCGAAAG	0.552																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(5530-5532)gaC>gaT		dynein, axonemal, heavy chain 10							113.0	117.0	116.0					12																	124332579		1998	4186	6184	SO:0001819	synonymous_variant	196385	0	0					g.chr12:124332579C>T	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.5532C>T	chr12.hg19:g.124332579C>T		0						p.D1844D	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		32	5557	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	1	1	hg19	c.5532C>T	CCDS9255.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000				148	145		621	609	0		1			0	0	129	0		1	0	0	0	0	0	0	148	621
DNAH10	196385	broad.mit.edu	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A	rs370827875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	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)			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)		CTGGACTCCCGCATGGGCATC	0.622																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(5779-5781)cGc>cAc		dynein, axonemal, heavy chain 10		G	HIS/ARG	0,4282		0,0,2141	37.0	41.0	40.0		5780	5.5	0.0	12		40	1,8537		0,1,4268	no	missense	DNAH10	NM_207437.3	29	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	1927/4472	124335466	1,12819	2141	4269	6410	SO:0001583	missense	196385	5	121222	40				g.chr12:124335466G>A	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.5780G>A	chr12.hg19:g.124335466G>A	ENSP00000386770:p.Arg1927His	0						p.R1927H	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		34	5805	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.5780G>A	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950710	0.73787	0.0	1.17E-4	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.48	5.48	0.80851	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.49508	0.1561	N	0.14661	0.345	0.53688	D	0.99997	D	0.76494	0.999	D	0.68765	0.96	T	0.55872	-0.8072	10	0.56958	D	0.05	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	H	1927	ENSP00000386770:R1927H	ENSP00000386770:R1927H	R	+	2	0	0	DNAH10	122901419	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.221587	1	0.170000				68	67		286	285	1		1			0	0	55	0		1	0	0	0	0	0	0	68	286
DNAH10	196385	broad.mit.edu	37	12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2602	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)			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)		AGAGGAGTCTCTGCATTTAAT	0.448																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(7804-7806)Ctg>Atg		dynein, axonemal, heavy chain 10							133.0	122.0	125.0					12																	124359997		1883	4113	5996	SO:0001583	missense	196385	0	0					g.chr12:124359997C>A	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.7804C>A	chr12.hg19:g.124359997C>A	ENSP00000386770:p.Leu2602Met	0						p.L2602M	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		46	7829	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.7804C>A	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516031	0.64634	.	.	ENSG00000197653	ENST00000409039	T	0.52754	0.65	5.41	-5.07	0.02938	5.41	-5.07	0.02938	.	0.000000	0.56097	U	0.000029	T	0.63438	0.2511	M	0.71036	2.16	0.40633	D	0.981872	D	0.89917	1.0	D	0.87578	0.998	T	0.67325	-0.5699	10	0.29301	T	0.29	.	20.508	0.99210	0.0:0.8064:0.0:0.1936	.	2602	Q8IVF4	DYH10_HUMAN	M	2602	ENSP00000386770:L2602M	ENSP00000386770:L2602M	L	+	1	2	2	DNAH10	122925950	122925950	0.003000	0.15002	0.361000	0.25849	0.946000	0.59487	0.056000	0.14256	-1.066000	0.03164	-0.484000	0.04775	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.265466	1	0.170000				65	65		268	263	1		1			0	0	82	0		1	0	0	0	0	0	0	65	268
DNAH10	196385	broad.mit.edu	37	12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3081	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)			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)		GAAGTCCGCCGCCTGCGAGGC	0.647																																						ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(9241-9243)Gcc>Acc		dynein, axonemal, heavy chain 10							20.0	25.0	24.0					12																	124383316		2001	4172	6173	SO:0001583	missense	196385	0	0					g.chr12:124383316G>A	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.9241G>A	chr12.hg19:g.124383316G>A	ENSP00000386770:p.Ala3081Thr	0						p.A3081T	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		55	9266	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.9241G>A	CCDS9255.2	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164423	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.74421	-0.84	4.54	4.54	0.55810	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.064020	0.64402	D	0.000006	D	0.85656	0.5747	M	0.89785	3.06	0.54753	D	0.99998	D	0.65815	0.995	P	0.55667	0.781	D	0.87201	0.2241	10	0.37606	T	0.19	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	3081	Q8IVF4	DYH10_HUMAN	T	3081	ENSP00000386770:A3081T	ENSP00000386770:A3081T	A	+	1	0	0	DNAH10	122949269	122949269	1.000000	0.71417	0.934000	0.37439	0.142000	0.21351	7.803000	0.85983	2.350000	0.79820	0.462000	0.41574	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				29	29		104	103	1		1	0		0	0	19	0		1	0	0	0	0	1	0	29	104
DNAH10	196385	broad.mit.edu	37	12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T	rs190094672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3316					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)			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)		CATGGAGAGGCGGCTGATTGC	0.537													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.0					ENST00000409039.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999432	0.990000	1.000000																										0				52						c.(9946-9948)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	2,3818		0,2,1908	32.0	34.0	33.0		9946	2.4	0.6	12		33	0,8208		0,0,4104	yes	missense	DNAH10	NM_207437.3	101	0,2,6012	TT,TC,CC		0.0,0.0524,0.0166	probably-damaging	3316/4472	124397810	2,12026	1910	4104	6014	SO:0001583	missense	196385	17	120628	40				g.chr12:124397810C>T	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.9946C>T	chr12.hg19:g.124397810C>T	ENSP00000386770:p.Arg3316Trp	0						p.R3316W	NM_207437.3	NP_997320.2	1	2	3	2.012185	Q8IVF4	DYH10_HUMAN		59	9971	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.9946C>T	CCDS9255.2	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	20.8	4.055986	0.76074	5.24E-4	0.0	ENSG00000197653	ENST00000409039	T	0.74526	-0.85	5.43	2.43	0.29744	5.43	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.95917	3.74	0.49130	D	0.999759	D	0.76494	0.999	D	0.68483	0.958	D	0.90043	0.4143	10	0.87932	D	0	.	14.6521	0.68805	0.5145:0.4855:0.0:0.0	.	3316	Q8IVF4	DYH10_HUMAN	W	3316	ENSP00000386770:R3316W	ENSP00000386770:R3316W	R	+	1	2	2	DNAH10	122963763	122963763	0.287000	0.24315	0.572000	0.28498	0.974000	0.67602	0.831000	0.27476	0.193000	0.20303	0.655000	0.94253	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.999950	1	0.170000				13	13		56	55	1		1			0	0	22	0		9.996817e-01	0	0	0	0	0	0	13	56
CCDC92	80212	broad.mit.edu	37	12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000238156.3	-	5	1219	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	289						centriole (GO:0005814)				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)		GCCACCCCGACGTGGGCCTTG	0.697													C|||	7	0.00139776	0.0053	0.0	5008	,	,		11508	0.0		0.0	False		,,,				2504	0.0					ENST00000238156.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.997138	0.990000	1.000000																										0				7						c.(865-867)Gtc>Atc		coiled-coil domain containing 92		C	ILE/VAL	14,4388		0,14,2187	21.0	22.0	22.0		865	4.5	1.0	12	dbSNP_126	22	0,8594		0,0,4297	no	missense	CCDC92	NM_025140.1	29	0,14,6484	TT,TC,CC		0.0,0.318,0.1077	benign	289/332	124421736	14,12982	2201	4297	6498	SO:0001583	missense	80212	44	120796	46				g.chr12:124421736C>T	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.865G>A	chr12.hg19:g.124421736C>T	ENSP00000238156:p.Val289Ile	0					DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I	p.V289I	NM_025140.1	NP_079416.1	1	2	3	2.012185	Q53HC0	CCD92_HUMAN		5	1219	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	1	1	hg19	c.865G>A	CCDS9256.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.24	1.877744	0.33162	0.00318	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.26067	1.76;1.8;1.8	5.43	4.53	0.55603	5.43	4.53	0.55603	.	0.197295	0.44097	N	0.000489	T	0.10035	0.0246	N	0.12746	0.255	0.38912	D	0.957564	B	0.21821	0.061	B	0.17098	0.017	T	0.08493	-1.0719	10	0.37606	T	0.19	-16.8421	9.9182	0.41448	0.0:0.7836:0.0:0.2164	rs34103982	289	Q53HC0	CCD92_HUMAN	I	289;272;272	ENSP00000238156:V289I;ENSP00000439526:V272I;ENSP00000440024:V272I	ENSP00000238156:V289I	V	-	1	0	0	CCDC92	122987689	122987689	0.993000	0.37304	0.990000	0.47175	0.309000	0.27889	0.366000	0.20365	1.261000	0.44149	0.505000	0.49811	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-7.543618	1	0.170000	NM_025140			34	34		269	264	0		1	1		0	0	40	0		1	9.982135e-01	0	8	0	71	0	34	269
CCDC92	80212	broad.mit.edu	37	12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000238156.3	-	5	812	c.458G>T	c.(457-459)aGc>aTc	p.S153I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	153						centriole (GO:0005814)				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)		GGCGATGGTGCTGGCCCGCTG	0.622																																						ENST00000238156.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(457-459)aGc>aTc		coiled-coil domain containing 92							114.0	97.0	103.0					12																	124422143		2203	4300	6503	SO:0001583	missense	80212	0	0					g.chr12:124422143C>A	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.458G>T	chr12.hg19:g.124422143C>A	ENSP00000238156:p.Ser153Ile	0					DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I	p.S153I	NM_025140.1	NP_079416.1	1	2	3	2.012185	Q53HC0	CCD92_HUMAN		5	812	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	1	1	hg19	c.458G>T	CCDS9256.1	1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816209	0.50527	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.25414	1.8;1.82;1.82	5.56	2.74	0.32292	5.56	2.74	0.32292	.	0.466412	0.27323	N	0.019897	T	0.24509	0.0594	M	0.72479	2.2	0.40073	D	0.976031	P	0.36909	0.573	B	0.32289	0.143	T	0.03597	-1.1021	10	0.44086	T	0.13	-3.2303	8.999	0.36069	0.0:0.7439:0.1223:0.1337	.	153	Q53HC0	CCD92_HUMAN	I	153;136;136	ENSP00000238156:S153I;ENSP00000439526:S136I;ENSP00000440024:S136I	ENSP00000238156:S153I	S	-	2	0	0	CCDC92	122988096	122988096	1.000000	0.71417	0.820000	0.32676	0.100000	0.18952	4.971000	0.63749	0.305000	0.22832	-0.226000	0.12346	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	0	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_025140			142	141		571	566	1		1	1		0	0	109	0		1	1	0	24	0	131	0	142	571
CCDC92	80212	broad.mit.edu	37	12	124428028	124428028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124428028A>G	ENST00000238156.3	-	3	401	c.47T>C	c.(46-48)gTc>gCc	p.V16A	CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	16						centriole (GO:0005814)				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)		TGCCATGCTGACATCCAGAGG	0.632																																						ENST00000238156.3	1.000000	0.150000	3.900000e-01	2.100000e-01	0.280000	0.347383	0.280000	0.270000																										0				7						c.(46-48)gTc>gCc		coiled-coil domain containing 92							114.0	102.0	106.0					12																	124428028		2203	4300	6503	SO:0001583	missense	80212	0	0					g.chr12:124428028A>G	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.47T>C	chr12.hg19:g.124428028A>G	ENSP00000238156:p.Val16Ala	0					CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR	p.V16A	NM_025140.1	NP_079416.1	1	2	3	2.012185	Q53HC0	CCD92_HUMAN		3	401	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	0	1	hg19	c.47T>C	CCDS9256.1	0	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428672	0.43122	.	.	ENSG00000119242	ENST00000238156;ENST00000539761;ENST00000539551	T;T;T	0.55234	1.64;0.55;0.53	5.77	4.62	0.57501	5.77	4.62	0.57501	.	0.165377	0.53938	N	0.000044	T	0.39733	0.1089	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17531	-1.0366	10	0.31617	T	0.26	-6.7798	8.4781	0.33025	0.7971:0.0:0.2029:0.0	.	16	Q53HC0	CCD92_HUMAN	A	16	ENSP00000238156:V16A;ENSP00000439441:V16A;ENSP00000442369:V16A	ENSP00000238156:V16A	V	-	2	0	0	CCDC92	122993981	122993981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.875000	0.39578	1.006000	0.39211	0.459000	0.35465	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	0	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-11.982560	1	0.170000	NM_025140			15	15		648	632	0		1	0		0	0	134	0		9.998441e-01	6.842605e-01	0	1	0	101	0	15	648
ZNF664	144348	broad.mit.edu	37	12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	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)			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)		TGCATCAGAGAGTCCACACCG	0.468																																						ENST00000539644.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				13						c.(403-405)agA>agT		zinc finger protein 664							72.0	83.0	79.0					12																	124497096		2203	4300	6503	SO:0001583	missense	144348	0	0					g.chr12:124497096A>T		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.405A>T	chr12.hg19:g.124497096A>T	ENSP00000441405:p.Arg135Ser	0					ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S	p.R135S			1	2	3	2.012185	Q8N3J9	ZN664_HUMAN		6	2235	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	1	1	hg19	c.405A>T	CCDS9257.1	1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692233	0.68271	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.25	-0.735	0.11137	4.25	-0.735	0.11137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001310	T	0.32941	0.0846	L	0.58428	1.81	0.32323	N	0.56211	D	0.71674	0.998	D	0.65323	0.934	T	0.42189	-0.9466	10	0.87932	D	0	-30.8672	0.788	0.01052	0.358:0.1751:0.297:0.1699	.	135	Q8N3J9	ZN664_HUMAN	S	135;135;135;135;73	ENSP00000441405:R135S;ENSP00000376205:R135S;ENSP00000440645:R135S;ENSP00000337320:R135S	ENSP00000337320:R135S	R	+	3	2	2	ZNF664	123063049	123063049	0.010000	0.17322	0.997000	0.53966	0.997000	0.91878	-0.127000	0.10547	-0.127000	0.11661	0.533000	0.62120	AGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_152437			94	92		689	680	1		1	1		0	0	127	0		1	1	0	96	0	194	0	94	689
FAM101A	144347	broad.mit.edu	37	12	124796398	124796398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124796398A>G	ENST00000389727.3	+	2	242	c.242A>G	c.(241-243)gAg>gGg	p.E81G	FAM101A_ENST00000324038.3_5'UTR|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000546355.1_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	81										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCGGCGTCGGAGATGAGGCCC	0.652																																						ENST00000389727.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998574	0.990000	1.000000																										0				3						c.(241-243)gAg>gGg		family with sequence similarity 101, member A							30.0	27.0	28.0					12																	124796398		2203	4300	6503	SO:0001583	missense	144347	0	0					g.chr12:124796398A>G		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.242A>G	chr12.hg19:g.124796398A>G	ENSP00000374377:p.Glu81Gly	0					FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000324038.3_5'UTR	p.E81G			1	2	3	2.012185	Q6ZTI6	F101A_HUMAN		2	242	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	1	1	hg19	c.242A>G		1	.	.	.	.	.	.	.	.	.	.	A	7.962	0.747238	0.15710	.	.	ENSG00000178882	ENST00000389727	.	.	.	4.83	0.958	0.19619	4.83	0.958	0.19619	.	0.167008	0.52532	U	0.000078	T	0.42131	0.1189	.	.	.	0.37423	D	0.913707	.	.	.	.	.	.	T	0.24048	-1.0171	6	0.22706	T	0.39	18.1017	5.1919	0.15214	0.5487:0.3547:0.0966:0.0	.	.	.	.	G	81	.	ENSP00000374377:E81G	E	+	2	0	0	FAM101A	123362351	123362351	1.000000	0.71417	0.228000	0.23943	0.019000	0.09904	4.229000	0.58625	-0.082000	0.12640	0.459000	0.35465	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-10.847980	1	0.170000	NM_181709			17	16		101	97	0		1	1		0	0	27	0		9.999678e-01	9.995528e-01	0	49	0	32	0	17	101
FAM101A	144347	broad.mit.edu	37	12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000389727.3	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	160										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692																																						ENST00000389727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(478-480)cGc>cAc		family with sequence similarity 101, member A							93.0	87.0	89.0					12																	124798899		2203	4298	6501	SO:0001583	missense	144347	2	121232	36				g.chr12:124798899G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.479G>A	chr12.hg19:g.124798899G>A	ENSP00000374377:p.Arg160His	0					FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H	p.R160H			1	2	3	2.012185	Q6ZTI6	F101A_HUMAN		3	479	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	1	1	hg19	c.479G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419266	0.62622	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.190246	0.47455	D	0.000233	T	0.68668	0.3026	M	0.66939	2.045	0.38343	D	0.944114	D	0.89917	1.0	D	0.71414	0.973	T	0.73799	-0.3869	9	0.87932	D	0	-1.3042	6.1345	0.20223	0.2454:0.0:0.7546:0.0	.	160	Q6ZTI6	F101A_HUMAN	H	79;160;79;79	.	ENSP00000315626:R79H	R	+	2	0	0	FAM101A	123364852	123364852	0.996000	0.38824	0.683000	0.30040	0.527000	0.34593	2.094000	0.41719	2.148000	0.66965	0.555000	0.69702	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_181709			146	144		582	572	1		1	1		0	0	116	0		1	1	0	53	0	64	0	146	582
FAM101A	144347	broad.mit.edu	37	12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000389727.3	+	3	550	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706																																						ENST00000389727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(550-552)Cac>Tac		family with sequence similarity 101, member A							41.0	41.0	41.0					12																	124798970		2203	4298	6501	SO:0001583	missense	144347	0	0					g.chr12:124798970C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.550C>T	chr12.hg19:g.124798970C>T	ENSP00000374377:p.His184Tyr	0					FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y	p.H184Y			1	2	3	2.012185	Q6ZTI6	F101A_HUMAN		3	550	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	1	1	hg19	c.550C>T		1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700828	0.48307	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	3.81	0.43845	4.7	3.81	0.43845	.	0.461107	0.23924	N	0.043209	T	0.32194	0.0821	L	0.36672	1.1	0.30418	N	0.778351	P	0.40731	0.728	B	0.40825	0.341	T	0.34153	-0.9840	9	0.62326	D	0.03	-17.4896	6.5299	0.22322	0.309:0.5978:0.0:0.0931	.	184	Q6ZTI6	F101A_HUMAN	Y	103;184;103;103	.	ENSP00000315626:H103Y	H	+	1	0	0	FAM101A	123364923	123364923	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.132000	0.64758	0.966000	0.38159	0.561000	0.74099	CAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_181709			85	83		317	316	1		1	1		0	0	67	0		1	9.998592e-01	0	22	0	28	0	85	317
NCOR2	9612	broad.mit.edu	37	12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000405201.1	-	34	4985	c.4985C>T	c.(4984-4986)cCg>cTg	p.P1662L	NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652																																						ENST00000405201.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998572	0.990000	1.000000																										0				69						c.(4984-4986)cCg>cTg		nuclear receptor corepressor 2							39.0	47.0	44.0					12																	124826572		2065	4190	6255	SO:0001583	missense	9612	3	120644	34				g.chr12:124826572G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4985C>T	chr12.hg19:g.124826572G>A	ENSP00000384018:p.Pro1662Leu	0					NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L	p.P1662L			1	2	3	2.012185	Q9Y618	NCOR2_HUMAN		34	4985	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	1	1	hg19	c.4985C>T	CCDS41858.2	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868059	0.72065	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.065092	0.64402	D	0.000006	T	0.66416	0.2787	M	0.64404	1.975	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	T	0.71823	-0.4476	10	0.87932	D	0	-22.6781	16.6063	0.84830	0.0:0.0:1.0:0.0	.	1652;1653;1662	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1662;1652;1669;1653;1661;1223;1652	ENSP00000384018:P1662L;ENSP00000384202:P1652L;ENSP00000348551:P1669L;ENSP00000380513:P1653L;ENSP00000385618:P1223L;ENSP00000400281:P1652L	ENSP00000348551:P1669L	P	-	2	0	0	NCOR2	123392525	123392525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	1.895000	0.54865	0.491000	0.48974	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-2.774744	1	0.170000	NM_006312			37	36		282	271	1		1	1		0	0	43	0		1	1	0	36	0	338	0	37	282
MANSC1	54682	broad.mit.edu	37	12	12483765	12483765	+	Silent	SNP	G	G	A	rs375298595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000396349.3_Silent_p.T130T|MANSC1_ENST00000545735.1_Silent_p.T83T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	164						integral component of membrane (GO:0016021)				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)		ATGAGATATCGGTGGGCTTTG	0.453																																						ENST00000535902.1	1.000000	0.110000	3.600000e-01	1.700000e-01	0.240000	0.299762	0.240000	0.230000																										0				23						c.(490-492)acC>acT		MANSC domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	93.0	89.0	90.0		492	-7.1	0.0	12		90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MANSC1	NM_018050.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		164/432	12483765	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54682	30	121412	46				g.chr12:12483765G>A	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.492C>T	chr12.hg19:g.12483765G>A		0					MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T	p.T164T			1	2	3	2.002308	Q9H8J5	MANS1_HUMAN		4	1055	-		Prostate(47;0.0865)	Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	0	1	hg19	c.492C>T	CCDS8648.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.659759	1	0.170000	NM_018050			9	9		455	447	0		1	0		0	0	81	0		9.938418e-01	6.626788e-01	0	0	0	112	0	9	455
NCOR2	9612	broad.mit.edu	37	12	124827723	124827723	+	Silent	SNP	C	C	T	rs571877591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000405201.1	-	33	4764	c.4764G>A	c.(4762-4764)acG>acA	p.T1588T	NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000404121.2_Silent_p.T1149T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000356219.3_Silent_p.T1595T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1596					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.0					ENST00000405201.1	1.000000	0.480000	1	6.300000e-01	0.810000	0.813497	0.810000	1.000000																										0				69						c.(4762-4764)acG>acA		nuclear receptor corepressor 2							46.0	56.0	53.0					12																	124827723		2175	4254	6429	SO:0001819	synonymous_variant	9612	4	120932	32				g.chr12:124827723C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4764G>A	chr12.hg19:g.124827723C>T		0					NCOR2_ENST00000356219.3_Silent_p.T1595T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000404121.2_Silent_p.T1149T	p.T1588T			1	2	3	2.012185	Q9Y618	NCOR2_HUMAN		33	4764	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	1	1	hg19	c.4764G>A	CCDS41858.2	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.542870	1	0.170000	NM_006312			16	16		225	213	0		1	1		0	0	37	0		9.999126e-01	9.997789e-01	0	20	0	182	0	16	225
NCOR2	9612	broad.mit.edu	37	12	124856630	124856630	+	Silent	SNP	G	G	A	rs546717361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000405201.1	-	20	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000404121.2_Silent_p.S468S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000356219.3_Silent_p.S915S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	915					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12415	0.001		0.0	False		,,,				2504	0.0					ENST00000405201.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2743-2745)agC>agT		nuclear receptor corepressor 2							33.0	42.0	39.0					12																	124856630		2122	4220	6342	SO:0001819	synonymous_variant	9612	1	120958	29				g.chr12:124856630G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2745C>T	chr12.hg19:g.124856630G>A		0					NCOR2_ENST00000356219.3_Silent_p.S915S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000404121.2_Silent_p.S468S	p.S915S			1	2	3	2.012185	Q9Y618	NCOR2_HUMAN		20	2745	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	1	1	hg19	c.2745C>T	CCDS41858.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006312			82	81		334	327	0		1	1		0	0	60	0		1	1	0	36	0	105	0	82	334
NCOR2	9612	broad.mit.edu	37	12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000405201.1	-	15	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	572					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617																																						ENST00000405201.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1714-1716)gCc>gTc		nuclear receptor corepressor 2							163.0	143.0	149.0					12																	124885145		1963	4154	6117	SO:0001583	missense	9612	0	0					g.chr12:124885145G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1715C>T	chr12.hg19:g.124885145G>A	ENSP00000384018:p.Ala572Val	0					NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V	p.A572V			1	2	3	2.012185	Q9Y618	NCOR2_HUMAN		15	1715	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	1	1	hg19	c.1715C>T	CCDS41858.2	1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506717	0.64410	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.60271	-0.7296	10	0.87932	D	0	-31.0363	18.5739	0.91147	0.0:0.0:1.0:0.0	.	571;572;572	C9J0Q5;C9J239;C9JFD3	.;.;.	V	572;571;572;572;572;142;571;572	ENSP00000384018:A572V;ENSP00000384202:A571V;ENSP00000348551:A572V;ENSP00000380513:A572V;ENSP00000385618:A142V;ENSP00000400281:A571V;ENSP00000402808:A572V	ENSP00000348551:A572V	A	-	2	0	0	NCOR2	123451098	123451098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.215000	0.95146	2.382000	0.81193	0.491000	0.48974	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	0		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	NM_006312			160	157		745	735	1		1	1		0	0	150	0		1	1	0	55	0	171	0	160	745
ERC1	23085	broad.mit.edu	37	12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000397203.2	+	8	2095	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	563					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)			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)			ATGACCTCAAGGACATGTTGG	0.428																																						ENST00000397203.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				38						c.(1687-1689)aaG>aaT		ELKS/RAB6-interacting/CAST family member 1							215.0	153.0	174.0					12																	1250905		2203	4300	6503	SO:0001583	missense	23085	0	0					g.chr12:1250905G>T	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.1689G>T	chr12.hg19:g.1250905G>T	ENSP00000380386:p.Lys563Asn	0					ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N	p.K563N			0	0	0	1.930325	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)	8	2095	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	1	1	hg19	c.1689G>T	CCDS8508.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.08;0.69;0.69;0.69;-1.08;-1.08;0.69	5.65	4.76	0.60689	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.58428	1.81	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.997;0.963;1.0	D	0.84186	0.0442	10	0.37606	T	0.19	-29.5886	14.3623	0.66782	0.0708:0.0:0.9292:0.0	.	311;203;535;535;563	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	535;563;535;535;263;535;535;263;563;563;563;535;311;203	ENSP00000340054:K535N;ENSP00000380386:K563N;ENSP00000438546:K535N;ENSP00000442976:K263N;ENSP00000442739:K563N;ENSP00000347621:K563N;ENSP00000354158:K563N;ENSP00000410064:K535N	ENSP00000299183:K263N	K	+	3	2	2	ERC1	1121166	1121166	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.356000	0.44116	1.380000	0.46344	0.655000	0.94253	AAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.126443	1	0.170000	NM_015064			35	34		177	168	1		1	1		0	0	42	0		1	9.989091e-01	0	10	0	46	0	35	177
MANSC1	54682	broad.mit.edu	37	12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	23						integral component of membrane (GO:0016021)				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)		CTAGCAGACAGCCTTAGTGTC	0.403																																						ENST00000535902.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(67-69)Ctg>Atg		MANSC domain containing 1							122.0	113.0	116.0					12																	12496182		2203	4300	6503	SO:0001583	missense	54682	0	0					g.chr12:12496182G>T	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.67C>A	chr12.hg19:g.12496182G>T	ENSP00000438205:p.Leu23Met	0					MANSC1_ENST00000396349.3_Intron	p.L23M			1	2	3	2.002308	Q9H8J5	MANS1_HUMAN		2	630	-		Prostate(47;0.0865)	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	1	1	hg19	c.67C>A	CCDS8648.1	1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660531	0.29515	.	.	ENSG00000111261	ENST00000535902;ENST00000543314	T;T	0.49139	2.2;0.79	5.33	4.43	0.53597	5.33	4.43	0.53597	.	0.762541	0.10293	N	0.692124	T	0.49983	0.1589	L	0.29908	0.895	0.09310	N	0.999992	D	0.64830	0.994	P	0.57371	0.819	T	0.33292	-0.9874	10	0.54805	T	0.06	0.5003	8.0655	0.30659	0.0867:0.1588:0.7545:0.0	.	23	Q9H8J5	MANS1_HUMAN	M	23	ENSP00000438205:L23M;ENSP00000437624:L23M	ENSP00000438205:L23M	L	-	1	2	2	MANSC1	12387449	12387449	0.026000	0.19158	0.056000	0.19401	0.210000	0.24377	1.945000	0.40273	1.198000	0.43158	0.655000	0.94253	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_018050			64	64		333	325	1		1	1		0	0	73	0		1	9.996834e-01	0	13	0	51	0	64	333
NCOR2	9612	broad.mit.edu	37	12	124885186	124885186	+	Silent	SNP	G	G	A	rs542671777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000405201.1	-	15	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000356219.3_Silent_p.N558N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	558					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17384	0.0		0.0	False		,,,				2504	0.0					ENST00000405201.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1672-1674)aaC>aaT		nuclear receptor corepressor 2							146.0	129.0	135.0					12																	124885186		1951	4148	6099	SO:0001819	synonymous_variant	9612	4	120884	40				g.chr12:124885186G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1674C>T	chr12.hg19:g.124885186G>A		0					NCOR2_ENST00000356219.3_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000404121.2_Silent_p.N128N	p.N558N			1	2	3	2.012185	Q9Y618	NCOR2_HUMAN		15	1674	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	1	1	hg19	c.1674C>T	CCDS41858.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	0		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_006312			128	127		672	664	1		1	1		0	0	130	0		1	1	0	37	0	113	0	128	672
SCARB1	949	broad.mit.edu	37	12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000415380.2	-	2	380	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000339570.5_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	85					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)			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)	GCTCCCGCACCTGCGGCTTCT	0.622																																						ENST00000415380.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(253-255)caG>caT		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						53.0	55.0	54.0					12																	125302125		2203	4300	6503	SO:0001583	missense	949	0	0					g.chr12:125302125C>A	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.255G>T	chr12.hg19:g.125302125C>A	ENSP00000414979:p.Gln85His	0					SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000339570.5_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H	p.Q85H			1	2	3	2.012185	Q8WTV0	SCRB1_HUMAN		2	380	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	1	1	hg19	c.255G>T		1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718797	0.15372	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.44	-1.23	0.09465	5.44	-1.23	0.09465	.	0.865179	0.10224	N	0.700512	T	0.60038	0.2238	L	0.45228	1.405	0.20307	N	0.999919	P;P;P;P;P;P	0.41597	0.635;0.756;0.635;0.635;0.537;0.712	P;P;P;P;B;P	0.45681	0.49;0.49;0.468;0.468;0.358;0.456	T	0.51140	-0.8743	10	0.30854	T	0.27	-6.4271	2.2086	0.03942	0.1203:0.4056:0.1176:0.3566	.	44;85;85;85;85;85	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	85;85;85;85;44;31;48;85	ENSP00000343795:Q85H;ENSP00000414979:Q85H;ENSP00000261693:Q85H;ENSP00000442862:Q85H;ENSP00000446107:Q44H;ENSP00000444851:Q31H;ENSP00000443286:Q48H;ENSP00000443454:Q85H	ENSP00000261693:Q85H	Q	-	3	2	2	SCARB1	123868078	123868078	0.067000	0.21026	0.604000	0.28916	0.248000	0.25809	0.469000	0.22067	0.270000	0.21984	-0.266000	0.10368	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_005505			71	70		268	261	1		1	1		0	0	55	0		1	9.999779e-01	0	19	0	43	0	71	268
UBC	7316	broad.mit.edu	37	12	125397088	125397088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	ENST00000536769.1	-	1	2806	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.I334I			P0CG48	UBC_HUMAN	ubiquitin C	410	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|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 type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|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 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)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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 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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTGTCTTGGATCTTTGCCT	0.517																																						ENST00000536769.1	1.000000	0.690000	1	7.800000e-01	0.890000	0.892820	0.890000	1.000000																										0				36						c.(1228-1230)atC>atT		ubiquitin C							122.0	113.0	116.0					12																	125397088		2203	4282	6485	SO:0001819	synonymous_variant	7316	0	0					g.chr12:125397088G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1230C>T	chr12.hg19:g.125397088G>A		0					UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000546120.1_Silent_p.I334I	p.I410I			1	2	3	2.012185	P0CG48	UBC_HUMAN		1	2806	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	1	1	hg19	c.1230C>T	CCDS9260.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	0	0	1		2	2	2	0		0	0	208		208	290	1	2.060000	-13.769580	1	0.170000	NM_021009			68	34		845	429	0		1	0		0	0	208	0		1	3.111203e-02	0	0	0	4	0	68	845
DHX37	57647	broad.mit.edu	37	12	125432718	125432718	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000308736.2	-	26	3398	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_ENST00000544745.1_Silent_p.P887P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1100							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		TCTCCGTACGGGGCTGCAGCC	0.627																																						ENST00000308736.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998555	0.990000	1.000000																										0				65						c.(3298-3300)ccC>ccT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							36.0	34.0	34.0					12																	125432718		2203	4300	6503	SO:0001819	synonymous_variant	57647	0	0					g.chr12:125432718G>A	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.3300C>T	chr12.hg19:g.125432718G>A		0					DHX37_ENST00000544745.1_Silent_p.P887P	p.P1100P	NM_032656.3	NP_116045.2	1	2	3	2.012185	Q8IY37	DHX37_HUMAN		26	3398	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	1	1	hg19	c.3300C>T	CCDS9261.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_032656			25	25		172	168	1		1	1		0	0	37	0		9.999999e-01	9.987102e-01	0	22	0	53	0	25	172
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	rs376946837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		CACAGCACCCGCCCCCGCTCG	0.657																																						ENST00000308736.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999825	0.990000	1.000000																										0				65						c.(3091-3093)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		G	TRP/ARG	0,4400		0,0,2200	23.0	24.0	24.0		3091	5.1	0.5	12		24	1,8597		0,1,4298	no	missense	DHX37	NM_032656.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1031/1158	125434989	1,12997	2200	4299	6499	SO:0001583	missense	57647	1	121224	29				g.chr12:125434989G>A	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.3091C>T	chr12.hg19:g.125434989G>A	ENSP00000311135:p.Arg1031Trp	0					DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	p.R1031W	NM_032656.3	NP_116045.2	1	2	3	2.012185	Q8IY37	DHX37_HUMAN		23	3189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	1	1	hg19	c.3091C>T	CCDS9261.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	2	DHX37	124000942	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_032656			23	23		125	122	1		1	1		0	0	25	0		9.999996e-01	9.962429e-01	0	15	0	37	0	23	125
DHX37	57647	broad.mit.edu	37	12	125437016	125437016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000308736.2	-	21	2894	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_ENST00000544745.1_Silent_p.G719G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	932							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		GGTCCCCCAGGCCTGCCGTCA	0.672																																						ENST00000308736.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998816	0.990000	1.000000																										0				65						c.(2794-2796)ggC>ggT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							56.0	45.0	49.0					12																	125437016		2203	4300	6503	SO:0001819	synonymous_variant	57647	0	0					g.chr12:125437016G>A	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.2796C>T	chr12.hg19:g.125437016G>A		0					DHX37_ENST00000544745.1_Silent_p.G719G	p.G932G	NM_032656.3	NP_116045.2	1	2	3	2.012185	Q8IY37	DHX37_HUMAN		21	2894	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	1	1	hg19	c.2796C>T	CCDS9261.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_032656			23	22		151	149	1		1	1		0	0	39	0		9.999995e-01	9.948067e-01	0	20	0	38	0	23	151
AACS	65985	broad.mit.edu	37	12	125576018	125576018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	173					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572																																						ENST00000316519.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(517-519)gcG>gcA		acetoacetyl-CoA synthetase							98.0	79.0	85.0					12																	125576018		2203	4300	6503	SO:0001819	synonymous_variant	65985	1	121412	31				g.chr12:125576018G>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.519G>A	chr12.hg19:g.125576018G>A		0					AACS_ENST00000261686.6_Silent_p.A173A	p.A173A	NM_023928.3	NP_076417.2	1	2	3	2.012185	Q86V21	AACS_HUMAN		5	725	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	1	1	hg19	c.519G>A	CCDS9263.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.107953	1	0.170000	NM_023928			61	61		246	243	1		1	1		0	0	60	0		1	9.981392e-01	0	12	0	29	0	61	246
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral component of membrane (GO:0016021)				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)		AGGGGACACGGCCACCTTTTT	0.532																																						ENST00000299308.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(889-891)Gcc>Acc		transmembrane protein 132B							191.0	181.0	184.0					12																	125834834		1964	4134	6098	SO:0001583	missense	114795	0	0					g.chr12:125834834G>A	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.889G>A	chr12.hg19:g.125834834G>A	ENSP00000299308:p.Ala297Thr	0						p.A297T	NM_052907.2	NP_443139.2	1	2	3	2.012185	Q14DG7	T132B_HUMAN		2	897	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	1	1	hg19	c.889G>A	CCDS41859.1	1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	0	TMEM132B	124400787	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1		2	2	2	0		0	0	229		229	226	1	2.060000	-20.000000	1	0.170000	NM_052907			203	202		870	856	1		1	0		0	0	229	0		1	3.615458e-02	0	0	0	2	0	203	870
TMEM132B	114795	broad.mit.edu	37	12	126128621	126128621	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)				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)		CCTTCCCAAAGGTTTCCAACA	0.428																																						ENST00000299308.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999865	0.990000	1.000000																										0				107						c.e6-1		transmembrane protein 132B							82.0	77.0	78.0					12																	126128621		1941	4150	6091	SO:0001630	splice_region_variant	114795	0	0					g.chr12:126128621G>T	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.1423-1G>T	chr12.hg19:g.126128621G>T		0					TMEM132B_ENST00000535886.1_Splice_Site		NM_052907.2	NP_443139.2	1	2	3	2.012185	Q14DG7	T132B_HUMAN		6	1430	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Splice_Site	SNP	ENST00000299308.3	0	1	hg19		CCDS41859.1	1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856831	0.32791	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TMEM132B	124694574	124694574	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	9.552000	0.98115	2.578000	0.87016	0.655000	0.94253	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_052907	Intron		30	29		180	177	0		1			0	0	47	0		1	0	0	0	0	0	0	30	180
ERC1	23085	broad.mit.edu	37	12	1291225	1291225	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000397203.2	+	10	2416	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000355446.5_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	670					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)			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)			ACCTTTCAGAGAAAGAGGTTA	0.363																																						ENST00000397203.2	1.000000	0.550000	1	7.300000e-01	0.950000	0.892193	0.950000	1.000000																										0				38						c.(2008-2010)gaG>gaA		ELKS/RAB6-interacting/CAST family member 1							54.0	56.0	55.0					12																	1291225		2203	4300	6503	SO:0001819	synonymous_variant	23085	0	0					g.chr12:1291225G>A	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.2010G>A	chr12.hg19:g.1291225G>A		0					ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000355446.5_Silent_p.E670E	p.E670E			0	0	0	1.930325	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)	10	2416	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	1	1	hg19	c.2010G>A	CCDS8508.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.352130	1	0.170000	NM_015064			14	14		152	148	1		1	1		0	0	38	0		9.997581e-01	9.103321e-01	0	14	0	34	0	14	152
DUSP16	80824	broad.mit.edu	37	12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	509					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.V509M(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)		TTGTCCTCCACGCTCCCACTT	0.587													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19718	0.0		0.0	False		,,,				2504	0.0				Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V509M(1)	endometrium(1)	26						c.(1525-1527)Gtg>Atg		dual specificity phosphatase 16		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59.0	58.0	58.0		1525	4.3	1.0	12	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP16	NM_030640.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	509/666	12630240	2,13004	2203	4300	6503	SO:0001583	missense	80824	25	121412	45				g.chr12:12630240C>T	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.1525G>A	chr12.hg19:g.12630240C>T	ENSP00000228862:p.Val509Met	0					DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	p.V509M	NM_030640.2	NP_085143.1	1	2	3	2.002308	Q9BY84	DUS16_HUMAN		7	2156	-		Prostate(47;0.0687)	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	1	1	hg19	c.1525G>A	CCDS8650.1	1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789841	0.16258	2.27E-4	1.16E-4	ENSG00000111266	ENST00000228862	T	0.01963	4.53	5.21	4.32	0.51571	5.21	4.32	0.51571	.	0.462115	0.19659	N	0.109008	T	0.01661	0.0053	L	0.31065	0.9	0.80722	D	1	P;P	0.36315	0.487;0.547	B;B	0.18263	0.015;0.021	T	0.64711	-0.6343	10	0.37606	T	0.19	.	8.5603	0.33507	0.0:0.7711:0.0:0.2289	.	509;509	Q9BY84;Q96N49	DUS16_HUMAN;.	M	509	ENSP00000228862:V509M	ENSP00000228862:V509M	V	-	1	0	0	DUSP16	12521507	12521507	0.380000	0.25131	0.982000	0.44146	0.714000	0.41099	0.323000	0.19593	1.423000	0.47198	0.655000	0.94253	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_030640			78	77		388	373	1		1	1		0	0	73	0		1	9.999990e-01	0	9	0	91	0	78	388
GPR19	2842	broad.mit.edu	37	12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			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)			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)		GTTATCCATTCTGTGAGCAAA	0.428																																						ENST00000540510.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(16-18)aGa>aTa		G protein-coupled receptor 19							93.0	91.0	92.0					12																	12815366		2203	4300	6503	SO:0001583	missense	2842	0	0					g.chr12:12815366C>A		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.17G>T	chr12.hg19:g.12815366C>A	ENSP00000441832:p.Arg6Ile	0					GPR19_ENST00000332427.2_Missense_Mutation_p.R6I	p.R6I			1	2	3	2.002308	P46093	GPR4_HUMAN		2	209	-		Prostate(47;0.0802)	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	1	1	hg19	c.17G>T	CCDS8652.1	1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041348	0.19669	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.43	2.44	0.29823	5.43	2.44	0.29823	.	0.304358	0.28853	N	0.013925	T	0.45458	0.1343	N	0.14661	0.345	0.41650	D	0.989128	B	0.23735	0.09	B	0.15484	0.013	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.887	9.0393	0.36307	0.0:0.6096:0.2469:0.1435	.	6	Q15760	GPR19_HUMAN	I	6	ENSP00000441832:R6I;ENSP00000333744:R6I	ENSP00000333744:R6I	R	-	2	0	0	GPR19	12706633	12706633	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.121000	0.31283	0.828000	0.34709	-0.150000	0.13652	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.081093	1	0.170000	NM_006143			89	86		461	453	1		1	0		0	0	97	0		1	7.157879e-02	0	0	0	3	0	89	461
TMEM132B	114795	broad.mit.edu	37	12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	911						integral component of membrane (GO:0016021)				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)		CTTCTGTCTGGCCATTCTGGT	0.527																																						ENST00000299308.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				107						c.(2731-2733)Gcc>Tcc		transmembrane protein 132B							98.0	96.0	97.0					12																	126138750		2035	4221	6256	SO:0001583	missense	114795	0	0					g.chr12:126138750G>T	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.2731G>T	chr12.hg19:g.126138750G>T	ENSP00000299308:p.Ala911Ser	0					TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	p.A911S	NM_052907.2	NP_443139.2	1	2	3	2.012185	Q14DG7	T132B_HUMAN		9	2739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	1	1	hg19	c.2731G>T	CCDS41859.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282492	0.80692	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.093223	0.47093	N	0.000257	T	0.55862	0.1947	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.60895	-0.7172	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	911	Q14DG7	T132B_HUMAN	S	911;423	ENSP00000299308:A911S;ENSP00000440436:A423S	ENSP00000299308:A911S	A	+	1	0	0	TMEM132B	124704703	124704703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.576000	0.98192	2.543000	0.85770	0.655000	0.94253	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_052907			71	69		443	439	1		1			0	0	82	0		1	0	0	0	0	0	0	71	443
SLC15A4	121260	broad.mit.edu	37	12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	233					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517																																						ENST00000266771.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(697-699)Gtc>Atc		solute carrier family 15 (oligopeptide transporter), member 4							197.0	179.0	185.0					12																	129299465		2203	4300	6503	SO:0001583	missense	121260	0	0					g.chr12:129299465C>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.697G>A	chr12.hg19:g.129299465C>T	ENSP00000266771:p.Val233Ile	0					SLC15A4_ENST00000539703.1_5'UTR	p.V233I	NM_145648.3	NP_663623.1	1	2	3	2.012185	Q8N697	S15A4_HUMAN		2	736	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	1	1	hg19	c.697G>A	CCDS9264.1	1	.	.	.	.	.	.	.	.	.	.	C	5.065	0.197674	0.09652	.	.	ENSG00000139370	ENST00000266771	T	0.04156	3.69	5.7	2.46	0.29980	5.7	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.219518	0.47093	N	0.000258	T	0.01592	0.0051	N	0.01250	-0.93	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.54248	-0.8322	10	0.21540	T	0.41	.	6.7249	0.23350	0.0:0.27:0.0:0.73	.	233	Q8N697	S15A4_HUMAN	I	233	ENSP00000266771:V233I	ENSP00000266771:V233I	V	-	1	0	0	SLC15A4	127865418	127865418	1.000000	0.71417	0.438000	0.26821	0.203000	0.24098	1.962000	0.40442	0.232000	0.21100	0.591000	0.81541	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_145648			112	110		510	503	1		1	1		0	0	133	0		1	1	0	121	0	158	0	112	510
GLT1D1	144423	broad.mit.edu	37	12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	31					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			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)		GGCTGCAGGGCACGTGTGCGT	0.463																																						ENST00000442111.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(91-93)Cac>Tac		glycosyltransferase 1 domain containing 1							137.0	141.0	140.0					12																	129360481		2203	4300	6503	SO:0001583	missense	144423	0	0					g.chr12:129360481C>T		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.91C>T	chr12.hg19:g.129360481C>T	ENSP00000394692:p.His31Tyr	0					GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000542193.1_5'UTR	p.H31Y			1	2	3	2.012185	Q96MS3	GL1D1_HUMAN		2	179	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	1	1	hg19	c.91C>T		1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319101	0.60524	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.49720	0.77;0.77;0.8	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.987;0.994	T	0.71424	-0.4597	10	0.51188	T	0.08	-28.2328	17.2721	0.87105	0.0:1.0:0.0:0.0	.	20;31	F5H088;Q96MS3-2	.;.	Y	31;31;20	ENSP00000394692:H31Y;ENSP00000281703:H31Y;ENSP00000438158:H20Y	ENSP00000281703:H31Y	H	+	1	0	0	GLT1D1	127926434	127926434	0.983000	0.35010	0.236000	0.24074	0.492000	0.33523	4.528000	0.60580	2.583000	0.87209	0.655000	0.94253	CAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_144669			132	125		645	629	1		1	0		0	0	137	0		1	0	0	0	0	1	0	132	645
DDX47	51202	broad.mit.edu	37	12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	62	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448																																						ENST00000358007.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(184-186)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							68.0	67.0	68.0					12																	12974144		2203	4300	6503	SO:0001583	missense	51202	0	0					g.chr12:12974144C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.184C>T	chr12.hg19:g.12974144C>T	ENSP00000350698:p.Arg62Cys	0					DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR	p.R62C	NM_016355.3	NP_057439.2	1	2	3	2.002308	Q9H0S4	DDX47_HUMAN		3	206	+		Prostate(47;0.0526)	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	1	1	hg19	c.184C>T	CCDS8655.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821218	0.71028	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.16743	2.32;2.32	5.6	4.69	0.59074	5.6	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000009	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;P	0.72338	0.977;0.977;0.911;0.887	T	0.41448	-0.9508	10	0.87932	D	0	-5.6338	14.3519	0.66708	0.2828:0.7172:0.0:0.0	.	62;62;62;62	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	C	62	ENSP00000319578:R62C;ENSP00000350698:R62C	ENSP00000319578:R62C	R	+	1	0	0	DDX47	12865411	12865411	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	1.327000	0.45338	0.555000	0.69702	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-2.929569	1	0.170000	NM_016355			78	77		402	393	1		1	1		0	0	89	0		1	1	0	33	0	135	0	78	402
DDX47	51202	broad.mit.edu	37	12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	166	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428																																						ENST00000358007.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(496-498)agA>agC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							93.0	88.0	90.0					12																	12974954		2203	4300	6503	SO:0001583	missense	51202	0	0					g.chr12:12974954A>C	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.498A>C	chr12.hg19:g.12974954A>C	ENSP00000350698:p.Arg166Ser	0					DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	p.R166S	NM_016355.3	NP_057439.2	1	2	3	2.002308	Q9H0S4	DDX47_HUMAN		5	520	+		Prostate(47;0.0526)	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	1	1	hg19	c.498A>C	CCDS8655.1	1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205868	0.58234	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.04162	-0.26	0.58432	D	0.999999	B;B;B	0.27559	0.004;0.003;0.181	B;B;B	0.36335	0.02;0.012;0.222	T	0.12400	-1.0549	10	0.02654	T	1	-22.6156	16.4323	0.83853	1.0:0.0:0.0:0.0	.	166;166;166	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	166;166;103	ENSP00000319578:R166S;ENSP00000350698:R166S;ENSP00000444000:R103S	ENSP00000319578:R166S	R	+	3	2	2	DDX47	12866221	12866221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.358000	0.59442	2.281000	0.76405	0.528000	0.53228	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_016355			53	52		276	272	1		1	1		0	0	52	0		1	1	0	33	0	135	0	53	276
DDX47	51202	broad.mit.edu	37	12	12976838	12976838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12976838C>A	ENST00000358007.3	+	8	807	c.785C>A	c.(784-786)gCt>gAt	p.A262D	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	262	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AATGAATTGGCTGGAAACTCC	0.423																																						ENST00000358007.3	1.000000	0.140000	3.400000e-01	1.900000e-01	0.250000	0.305026	0.250000	0.250000																										0				16						c.(784-786)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							180.0	177.0	178.0					12																	12976838		2203	4300	6503	SO:0001583	missense	51202	0	0					g.chr12:12976838C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.785C>A	chr12.hg19:g.12976838C>A	ENSP00000350698:p.Ala262Asp	0					DDX47_ENST00000352940.4_Intron	p.A262D	NM_016355.3	NP_057439.2	1	2	3	2.002308	Q9H0S4	DDX47_HUMAN		8	807	+		Prostate(47;0.0526)	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	0	1	hg19	c.785C>A	CCDS8655.1	0	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743634	0.69418	.	.	ENSG00000213782	ENST00000358007	T	0.04603	3.59	5.53	5.53	0.82687	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.16266	0.395	0.80722	D	1	B;D	0.52996	0.019;0.957	B;P	0.50440	0.015;0.641	T	0.47983	-0.9074	10	0.35671	T	0.21	-16.6468	19.4703	0.94961	0.0:1.0:0.0:0.0	.	262;262	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	D	262	ENSP00000350698:A262D	ENSP00000350698:A262D	A	+	2	0	0	DDX47	12868105	12868105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.578000	0.82498	2.600000	0.87896	0.561000	0.74099	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	0	0	1		20	7	2	1		1	1	118		118	117	1	2.060000	-3.052017	1	0.170000	NM_016355			15	15		715	708	0		0	0		1	0	118	0		2.367916e-01	7.815029e-02	0	5	0	153	0	15	715
TMEM132D	121256	broad.mit.edu	37	12	129566325	129566325	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		TCATCCCAAGCTCCTGCCCCA	0.498																																						ENST00000422113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				152						c.(1900-1902)gaG>gaA		transmembrane protein 132D							45.0	43.0	44.0					12																	129566325		2203	4299	6502	SO:0001819	synonymous_variant	121256	0	0					g.chr12:129566325C>T	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.1902G>A	chr12.hg19:g.129566325C>T		0					TMEM132D_ENST00000389441.4_Silent_p.E172E	p.E634E	NM_133448.2	NP_597705.2	1	2	3	2.012185	Q14C87	T132D_HUMAN		7	2228	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	1	1	hg19	c.1902G>A	CCDS9266.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_133448			61	58		252	239	1		1	0		0	0	42	0		1	1.018768e-01	0	0	0	3	0	61	252
TMEM132D	121256	broad.mit.edu	37	12	130185005	130185005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	106					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		AATCCTGGGGCACCACTTGCT	0.502																																						ENST00000422113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				152						c.(316-318)gtG>gtA		transmembrane protein 132D							66.0	68.0	67.0					12																	130185005		2203	4300	6503	SO:0001819	synonymous_variant	121256	0	0					g.chr12:130185005C>T	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.318G>A	chr12.hg19:g.130185005C>T		0					RP11-174M13.2_ENST00000544036.1_lincRNA	p.V106V	NM_133448.2	NP_597705.2	1	2	3	2.012185	Q14C87	T132D_HUMAN		2	644	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	1	1	hg19	c.318G>A	CCDS9266.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_133448			49	49		243	236	1		1			0	0	70	0		1	0	0	0	0	0	0	49	243
TMEM132D	121256	broad.mit.edu	37	12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	63					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		GGTTGGCCTCCTTCAGGAAGA	0.552																																						ENST00000422113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				152						c.(187-189)aaG>aaT		transmembrane protein 132D							81.0	65.0	71.0					12																	130185134		2203	4300	6503	SO:0001583	missense	121256	0	0					g.chr12:130185134C>A	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.189G>T	chr12.hg19:g.130185134C>A	ENSP00000408581:p.Lys63Asn	0					RP11-174M13.2_ENST00000544036.1_lincRNA	p.K63N	NM_133448.2	NP_597705.2	1	2	3	2.012185	Q14C87	T132D_HUMAN		2	515	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	1	1	hg19	c.189G>T	CCDS9266.1	1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594132	0.66219	.	.	ENSG00000151952	ENST00000422113	T	0.12879	2.64	5.33	2.5	0.30297	5.33	2.5	0.30297	.	0.000000	0.64402	D	0.000007	T	0.35970	0.0950	M	0.85373	2.75	0.37480	D	0.915953	D	0.71674	0.998	D	0.69142	0.962	T	0.44802	-0.9304	9	.	.	.	-41.0956	10.0937	0.42462	0.0:0.738:0.0:0.262	.	63	Q14C87	T132D_HUMAN	N	63	ENSP00000408581:K63N	.	K	-	3	2	2	TMEM132D	128751087	128751087	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	1.239000	0.43787	0.555000	0.69702	AAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.490353	1	0.170000	NM_133448			46	46		189	182	1		1			0	0	52	0		1	0	0	0	0	0	0	46	189
FZD10	11211	broad.mit.edu	37	12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000229030.4	+	1	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FZD10_ENST00000539839.1_Silent_p.P34P|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	67	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)			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)		GCAGCCATCCAGTTGCACGAG	0.627																																						ENST00000229030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(199-201)cAg>cGg		frizzled class receptor 10							45.0	43.0	43.0					12																	130647687		2203	4300	6503	SO:0001583	missense	11211	0	0					g.chr12:130647687A>G	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.200A>G	chr12.hg19:g.130647687A>G	ENSP00000229030:p.Gln67Arg	0					FZD10_ENST00000539839.1_Silent_p.P34P|FZD10-AS1_ENST00000505807.2_RNA	p.Q67R			1	2	3	2.012185	Q9ULW2	FZD10_HUMAN		1	684	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Missense_Mutation	SNP	ENST00000229030.4	1	1	hg19	c.200A>G	CCDS9267.1	1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220771	0.39201	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.4	4.4	0.53042	4.4	4.4	0.53042	Frizzled domain (5);	0.068546	0.64402	U	0.000019	T	0.64023	0.2561	L	0.31526	0.94	0.52099	D	0.999948	B	0.11235	0.004	B	0.16289	0.015	T	0.62134	-0.6918	10	0.52906	T	0.07	.	13.6359	0.62223	1.0:0.0:0.0:0.0	.	67	Q9ULW2	FZD10_HUMAN	R	67	ENSP00000229030:Q67R	ENSP00000229030:Q67R	Q	+	2	0	0	FZD10	129213640	129213640	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.993000	0.76245	1.613000	0.50231	0.459000	0.35465	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				84	82		286	279	0		1			0	0	54	0		1	0	0	0	0	0	0	84	286
FZD10	11211	broad.mit.edu	37	12	130648444	130648444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000229030.4	+	1	1441	c.957C>T	c.(955-957)ttC>ttT	p.F319F	FZD10_ENST00000539839.1_Missense_Mutation_p.R287W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	319					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.F319F(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)		TCTACTACTTCGGCATGGCCA	0.647																																						ENST00000229030.4	1.000000	0.280000	7.000000e-01	3.800000e-01	0.510000	0.554238	0.510000	0.480000																										1	Substitution - coding silent(1)	p.F319F(1)	endometrium(1)	35						c.(955-957)ttC>ttT		frizzled class receptor 10							61.0	56.0	58.0					12																	130648444		2203	4300	6503	SO:0001819	synonymous_variant	11211	0	0					g.chr12:130648444C>T	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.957C>T	chr12.hg19:g.130648444C>T		0					FZD10_ENST00000539839.1_Missense_Mutation_p.R287W|FZD10-AS1_ENST00000505807.2_RNA	p.F319F			1	2	3	2.012185	Q9ULW2	FZD10_HUMAN		1	1441	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Silent	SNP	ENST00000229030.4	1	1	hg19	c.957C>T	CCDS9267.1	0	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081154	0.20309	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	0.604	0.17547	5.1	0.604	0.17547	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65084	-0.6254	5	0.87932	D	0	.	9.8296	0.40932	0.0:0.53:0.0:0.47	.	.	.	.	W	287	.	ENSP00000438460:R287W	R	+	1	2	2	FZD10	129214397	129214397	0.978000	0.34361	1.000000	0.80357	0.984000	0.73092	0.155000	0.16362	0.187000	0.20147	-0.254000	0.11334	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.265789	1	0.170000				14	14		328	325	0		1	0		0	0	50	0		9.997541e-01	2.022245e-03	0	0	0	2	0	14	328
RIMBP2	23504	broad.mit.edu	37	12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	862	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		GACATGGTGAGCGGGTCGTAG	0.572																																						ENST00000261655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(2584-2586)Ctc>Ttc		RIMS binding protein 2							87.0	91.0	89.0					12																	130898738		2203	4300	6503	SO:0001583	missense	23504	0	0					g.chr12:130898738G>A	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.2584C>T	chr12.hg19:g.130898738G>A	ENSP00000261655:p.Leu862Phe	0						p.L862F	NM_015347.4	NP_056162.4	1	2	3	2.012185	O15034	RIMB2_HUMAN		14	2747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	1	1	hg19	c.2584C>T	CCDS31925.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654843	0.67472	.	.	ENSG00000060709	ENST00000261655	T	0.30448	1.53	4.37	4.37	0.52481	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.156920	0.44285	D	0.000471	T	0.30386	0.0763	L	0.31476	0.935	0.80722	D	1	P	0.49307	0.922	P	0.52554	0.702	T	0.01982	-1.1235	10	0.14252	T	0.57	-30.3853	12.4072	0.55447	0.0:0.0:0.8317:0.1683	.	862	O15034	RIMB2_HUMAN	F	862	ENSP00000261655:L862F	ENSP00000261655:L862F	L	-	1	0	0	RIMBP2	129464691	129464691	0.997000	0.39634	0.899000	0.35326	0.990000	0.78478	2.452000	0.44961	2.117000	0.64856	0.650000	0.86243	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_015347			102	100		498	491	1		1	0		0	0	91	0		1	2.053406e-01	0	0	0	5	0	102	498
GPRC5D	55507	broad.mit.edu	37	12	13102917	13102917	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000538231.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)		GACTGCAACCAATAGCAATGC	0.463																																						ENST00000228887.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(400-402)atT>atC		G protein-coupled receptor, class C, group 5, member D							110.0	95.0	100.0					12																	13102917		2203	4300	6503	SO:0001819	synonymous_variant	55507	0	0					g.chr12:13102917A>G	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.402T>C	chr12.hg19:g.13102917A>G		0					GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	p.I134I	NM_018654.1	NP_061124.1	1	2	3	2.002308	Q9NZD1	GPC5D_HUMAN		1	401	-		Prostate(47;0.183)	Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	1	1	hg19	c.402T>C	CCDS8658.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000				61	61		268	260	1		1	0		0	0	93	0		1	3.554399e-02	0	0	0	2	0	61	268
RIMBP2	23504	broad.mit.edu	37	12	130921635	130921635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130921635C>A	ENST00000261655.4	-	10	1970	c.1807G>T	c.(1807-1809)Gca>Tca	p.A603S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	603	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		CCAGAACTTGCTAATGGCTTT	0.647																																						ENST00000261655.4	1.000000	0.200000	8.900000e-01	3.400000e-01	0.540000	0.588377	0.540000	1.000000																										0				96						c.(1807-1809)Gca>Tca		RIMS binding protein 2							63.0	50.0	55.0					12																	130921635		2203	4300	6503	SO:0001583	missense	23504	0	0					g.chr12:130921635C>A	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.1807G>T	chr12.hg19:g.130921635C>A	ENSP00000261655:p.Ala603Ser	0					RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S	p.A603S	NM_015347.4	NP_056162.4	1	2	3	2.012185	O15034	RIMB2_HUMAN		10	1970	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	0	1	hg19	c.1807G>T	CCDS31925.1	0	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564943	0.13498	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.63	2.6	0.31112	4.63	2.6	0.31112	.	0.734998	0.13089	N	0.414720	T	0.29716	0.0742	M	0.76838	2.35	0.31546	N	0.659379	P;B;B	0.41393	0.748;0.383;0.008	B;B;B	0.38842	0.283;0.178;0.005	T	0.29822	-0.9999	10	0.22109	T	0.4	-4.4196	4.581	0.12259	0.1513:0.6093:0.1467:0.0928	.	511;511;603	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	S	603;511;511;511	ENSP00000261655:A603S;ENSP00000440347:A511S;ENSP00000439159:A511S	ENSP00000261655:A603S	A	-	1	0	0	RIMBP2	129487588	129487588	0.997000	0.39634	0.435000	0.26784	0.059000	0.15707	0.524000	0.22940	0.298000	0.22638	0.561000	0.74099	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-8.176106	1	0.170000	NM_015347			5	5		117	116	0		1	0		0	0	14	0		9.375226e-01	2.709677e-03	0	0	0	2	0	5	117
GPR133	283383	broad.mit.edu	37	12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000261654.5	+	5	943	c.384G>T	c.(382-384)caG>caT	p.Q128H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	128					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512																																						ENST00000261654.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(382-384)caG>caT		G protein-coupled receptor 133							135.0	124.0	128.0					12																	131466502		2203	4300	6503	SO:0001583	missense	283383	0	0					g.chr12:131466502G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.384G>T	chr12.hg19:g.131466502G>T	ENSP00000261654:p.Gln128His	0					GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	p.Q128H	NM_198827.3	NP_942122.2	1	2	3	2.012185	Q6QNK2	GP133_HUMAN		5	943	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	1	1	hg19	c.384G>T	CCDS9272.1	1	.	.	.	.	.	.	.	.	.	.	g	8.347	0.830091	0.16749	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74106	-0.81;-0.81	4.13	3.21	0.36854	4.13	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.072165	0.56097	D	0.000026	T	0.69620	0.3131	M	0.77616	2.38	0.80722	D	1	P;B	0.35551	0.509;0.267	B;B	0.35470	0.203;0.127	T	0.73452	-0.3978	10	0.87932	D	0	.	4.6701	0.12685	0.3171:0.0:0.6829:0.0	.	160;128	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	128;160	ENSP00000261654:Q128H;ENSP00000444425:Q160H	ENSP00000261654:Q128H	Q	+	3	2	2	GPR133	130032455	130032455	1.000000	0.71417	0.969000	0.41365	0.116000	0.19942	0.698000	0.25571	1.996000	0.58369	0.558000	0.71614	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.438979	1	0.170000	NM_198827			96	93		398	397	1		1	0		0	0	99	0		1	9.983620e-01	0	0	0	42	0	96	398
GPR133	283383	broad.mit.edu	37	12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000261654.5	+	13	1896	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	GPR133_ENST00000376682.4_Missense_Mutation_p.A132V|GPR133_ENST00000535015.1_Missense_Mutation_p.A478V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	446					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587																																						ENST00000261654.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				67						c.(1336-1338)gCg>gTg		G protein-coupled receptor 133							96.0	84.0	88.0					12																	131498749		2203	4300	6503	SO:0001583	missense	283383	12	121412	40				g.chr12:131498749C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1337C>T	chr12.hg19:g.131498749C>T	ENSP00000261654:p.Ala446Val	0					GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	p.A446V	NM_198827.3	NP_942122.2	1	2	3	2.012185	Q6QNK2	GP133_HUMAN		13	1896	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	1	1	hg19	c.1337C>T	CCDS9272.1	1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980784	0.34942	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.43688	0.95;0.94;0.95	4.43	3.52	0.40303	4.43	3.52	0.40303	.	0.642937	0.15993	N	0.234703	T	0.32526	0.0832	L	0.53249	1.67	0.09310	N	0.999992	B;B	0.33120	0.342;0.398	B;B	0.19391	0.025;0.025	T	0.20538	-1.0272	10	0.44086	T	0.13	.	8.8773	0.35354	0.0:0.8878:0.0:0.1122	.	478;446	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	446;478;142;132	ENSP00000261654:A446V;ENSP00000444425:A478V;ENSP00000365872:A132V	ENSP00000261654:A446V	A	+	2	0	0	GPR133	130064702	130064702	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	1.699000	0.37804	2.183000	0.69458	0.645000	0.84053	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_198827			54	54		302	296	1		1	1		0	0	78	0		1	9.995751e-01	0	2	0	65	0	54	302
KIAA1467	57613	broad.mit.edu	37	12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	125						integral component of membrane (GO:0016021)				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)		TGCTTTCCTGATCCCCTGTCC	0.577																																						ENST00000197268.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(373-375)Atc>Gtc		KIAA1467							59.0	52.0	54.0					12																	13208820		2203	4300	6503	SO:0001583	missense	57613	0	0					g.chr12:13208820A>G	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.373A>G	chr12.hg19:g.13208820A>G	ENSP00000197268:p.Ile125Val	0						p.I125V	NM_020853.1	NP_065904.1	1	2	3	2.002308	A2RU67	K1467_HUMAN		2	493	+		Prostate(47;0.184)	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	1	1	hg19	c.373A>G	CCDS31750.1	1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.959419	0.53400	.	.	ENSG00000084444	ENST00000197268	T	0.21543	2.0	5.33	4.2	0.49525	5.33	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);	0.120006	0.56097	D	0.000024	T	0.21631	0.0521	M	0.66939	2.045	0.34721	D	0.728697	P	0.38223	0.623	B	0.36186	0.219	T	0.30592	-0.9973	10	0.28530	T	0.3	-24.0397	10.5842	0.45273	0.9248:0.0:0.0752:0.0	.	125	A2RU67	K1467_HUMAN	V	125	ENSP00000197268:I125V	ENSP00000197268:I125V	I	+	1	0	0	KIAA1467	13100087	13100087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.481000	0.60250	2.020000	0.59435	0.487000	0.48397	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_020853			73	71		272	268	1		1	0		0	0	56	0		1	4.583594e-01	0	1	0	6	0	73	272
KIAA1467	57613	broad.mit.edu	37	12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	619						integral component of membrane (GO:0016021)		p.P619S(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)		TGTTGAAGCTCCCTACGAGGT	0.478																																						ENST00000197268.8	1.000000	0.640000	1	8.700000e-01	0.990000	0.952697	0.990000	1.000000																										1	Substitution - Missense(1)	p.P619S(1)	skin(1)	36						c.(1855-1857)Ccc>Tcc		KIAA1467							30.0	34.0	33.0					12																	13232935		2203	4300	6503	SO:0001583	missense	57613	0	0					g.chr12:13232935C>T	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.1855C>T	chr12.hg19:g.13232935C>T	ENSP00000197268:p.Pro619Ser	0						p.P619S	NM_020853.1	NP_065904.1	1	2	3	2.002308	A2RU67	K1467_HUMAN		12	1975	+		Prostate(47;0.184)	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	0	1	hg19	c.1855C>T	CCDS31750.1	1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845378	0.32606	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	3.45	0.39498	5.43	3.45	0.39498	.	0.515087	0.20509	N	0.090937	T	0.35998	0.0951	L	0.29908	0.895	0.36344	D	0.859672	B	0.33940	0.433	B	0.33890	0.172	T	0.45600	-0.9250	9	0.52906	T	0.07	-14.8978	5.5861	0.17275	0.1414:0.644:0.1372:0.0775	.	619	A2RU67	K1467_HUMAN	S	619	.	ENSP00000197268:P619S	P	+	1	0	0	KIAA1467	13124202	13124202	1.000000	0.71417	0.995000	0.50966	0.431000	0.31685	1.421000	0.34815	2.540000	0.85666	0.650000	0.86243	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-18.407370	1	0.170000	NM_020853			12	12		113	108	0		1	1		0	0	21	0		9.990652e-01	5.642531e-02	0	2	0	2	0	12	113
GPR133	283383	broad.mit.edu	37	12	131561384	131561384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000261654.5	+	14	2071	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000543617.1_Silent_p.N23N|GPR133_ENST00000535015.1_Silent_p.N536N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	504					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582																																						ENST00000261654.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1510-1512)aaC>aaT		G protein-coupled receptor 133							207.0	161.0	176.0					12																	131561384		2203	4300	6503	SO:0001819	synonymous_variant	283383	0	0					g.chr12:131561384C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1512C>T	chr12.hg19:g.131561384C>T		0					GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000543617.1_Silent_p.N23N	p.N504N	NM_198827.3	NP_942122.2	1	2	3	2.012185	Q6QNK2	GP133_HUMAN		14	2071	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	1	1	hg19	c.1512C>T	CCDS9272.1	1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644332	0.03531	.	.	ENSG00000111452	ENST00000335486	.	.	.	3.78	3.78	0.43462	3.78	3.78	0.43462	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67921	-0.5545	4	.	.	.	.	13.4585	0.61212	0.0:1.0:0.0:0.0	.	.	.	.	I	26	.	.	T	+	2	0	0	GPR133	130127337	130127337	0.921000	0.31238	0.598000	0.28837	0.110000	0.19582	1.420000	0.34804	1.848000	0.53677	0.491000	0.48974	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_198827			72	72		427	417	0		1	0		0	0	96	0		1	9.847189e-01	0	0	0	41	0	72	427
MMP17	4326	broad.mit.edu	37	12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	423					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCCCGTCTCCGACTTCAGCCT	0.602																																						ENST00000360564.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1267-1269)Gac>Aac		matrix metallopeptidase 17 (membrane-inserted)	Marimastat(DB00786)						100.0	104.0	103.0					12																	132334409		2203	4300	6503	SO:0001583	missense	4326	7	121412	43				g.chr12:132334409G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1267G>A	chr12.hg19:g.132334409G>A	ENSP00000353767:p.Asp423Asn	0					MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	p.D423N	NM_016155.4	NP_057239.4	1	2	3	2.012185	Q9ULZ9	MMP17_HUMAN		9	1369	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q14850	Missense_Mutation	SNP	ENST00000360564.1	1	1	hg19	c.1267G>A	CCDS31927.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.093522	0.94149	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.48	4.48	0.54585	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.13442	-1.0509	10	0.66056	D	0.02	.	17.1756	0.86841	0.0:0.0:1.0:0.0	.	423	Q9ULZ9	MMP17_HUMAN	N	423;339;264;53	ENSP00000353767:D423N;ENSP00000441106:D339N;ENSP00000442104:D264N;ENSP00000439542:D53N	ENSP00000353767:D423N	D	+	1	0	0	MMP17	130900362	130900362	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	9.750000	0.98875	2.054000	0.61138	0.471000	0.43371	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-20.000000	1	0.170000	NM_016155			158	156		707	702	1		1	0		0	0	152	0		1	9.283777e-01	0	0	0	22	0	158	707
ULK1	8408	broad.mit.edu	37	12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672																																						ENST00000321867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(412-414)Gac>Aac		unc-51 like autophagy activating kinase 1							26.0	26.0	26.0					12																	132393284		2197	4298	6495	SO:0001583	missense	8408	0	0					g.chr12:132393284G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.412G>A	chr12.hg19:g.132393284G>A	ENSP00000324560:p.Asp138Asn	0						p.D138N	NM_003565.2	NP_003556	1	2	3	2.012185	O75385	ULK1_HUMAN		6	763	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	1	1	hg19	c.412G>A	CCDS9274.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.097301	0.97281	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	D;D;D	0.92965	-3.14;-3.14;-3.14	5.51	5.51	0.81932	5.51	5.51	0.81932	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	0.97508	0.9184	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98391	1.0563	10	0.87932	D	0	-51.9126	19.4219	0.94725	0.0:0.0:1.0:0.0	.	138	O75385	ULK1_HUMAN	N	138;55;32	ENSP00000324560:D138N;ENSP00000438953:D55N;ENSP00000444983:D32N	ENSP00000324560:D138N	D	+	1	0	0	ULK1	130959237	130959237	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	9.832000	0.99423	2.593000	0.87608	0.455000	0.32223	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000				51	51		143	142	0		1	1		0	0	28	0		1	9.999977e-01	0	17	0	43	0	51	143
ULK1	8408	broad.mit.edu	37	12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A	rs377295019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687																																						ENST00000321867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(781-783)cGc>cAc		unc-51 like autophagy activating kinase 1		G	HIS/ARG	0,4406		0,0,2203	34.0	45.0	41.0		782	5.3	0.9	12		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	ULK1	NM_003565.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	261/1051	132394520	1,13001	2203	4298	6501	SO:0001583	missense	8408	0	0					g.chr12:132394520G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.782G>A	chr12.hg19:g.132394520G>A	ENSP00000324560:p.Arg261His	0						p.R261H	NM_003565.2	NP_003556	1	2	3	2.012185	O75385	ULK1_HUMAN		10	1133	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	1	1	hg19	c.782G>A	CCDS9274.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381883	0.82792	0.0	1.16E-4	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.25250	1.81;1.81	5.29	5.29	0.74685	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.46521	0.1397	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42481	-0.9449	10	0.87932	D	0	-37.8696	17.7077	0.88313	0.0:0.0:1.0:0.0	.	261	O75385	ULK1_HUMAN	H	261;178	ENSP00000324560:R261H;ENSP00000438953:R178H	ENSP00000324560:R261H	R	+	2	0	0	ULK1	130960473	130960473	1.000000	0.71417	0.943000	0.38184	0.142000	0.21351	4.701000	0.61810	2.474000	0.83562	0.313000	0.20887	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				41	40		188	184	1		1	1		0	0	35	0		1	9.992321e-01	0	11	0	42	0	41	188
ULK1	8408	broad.mit.edu	37	12	132405897	132405897	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1048					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677																																						ENST00000321867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(3142-3144)atC>atA		unc-51 like autophagy activating kinase 1							119.0	116.0	117.0					12																	132405897		2203	4300	6503	SO:0001819	synonymous_variant	8408	0	0					g.chr12:132405897C>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3144C>A	chr12.hg19:g.132405897C>A		0					ULK1_ENST00000540647.1_Silent_p.I293I	p.I1048I	NM_003565.2	NP_003556	1	2	3	2.012185	O75385	ULK1_HUMAN		28	3495	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q9UQ28	Silent	SNP	ENST00000321867.4	1	1	hg19	c.3144C>A	CCDS9274.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	0	0	1		22	4	2	1		1	1	155		155	154	1	2.060000	-20.000000	1	0.170000				220	219		820	811	1		1	1		1	0	155	0		1	9.999713e-01	0	13	0	64	0	220	820
PUS1	80324	broad.mit.edu	37	12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000376649.3	+	5	1363	c.863G>A	c.(862-864)aGc>aAc	p.S288N	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000542167.2_Missense_Mutation_p.S235N	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000376649.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(862-864)aGc>aAc		pseudouridylate synthase 1							148.0	142.0	144.0					12																	132426155		2203	4300	6503	SO:0001583	missense	80324	0	0					g.chr12:132426155G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.863G>A	chr12.hg19:g.132426155G>A	ENSP00000365837:p.Ser288Asn	0					PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000542167.2_Missense_Mutation_p.S235N|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N	p.S288N	NM_025215.5	NP_079491.2	1	2	3	2.012185	Q9Y606	TRUA_HUMAN		5	1363	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	1	1	hg19	c.863G>A	CCDS9275.2	1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033607	0.93575	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.17	5.17	0.71159	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.5566	18.6497	0.91427	0.0:0.0:1.0:0.0	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	N	260;288;260;260;235	ENSP00000392451:S260N;ENSP00000365837:S288N;ENSP00000324726:S260N;ENSP00000400032:S260N;ENSP00000438948:S235N	ENSP00000324726:S260N	S	+	2	0	0	PUS1	130992108	130992108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.405000	0.81733	0.491000	0.48974	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	0	0	1		19	6	2	1		1	1	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_025215			134	130		585	578	1		1	1		1	0	125	0		1	9.999996e-01	0	47	0	94	0	134	585
EP400	57634	broad.mit.edu	37	12	132475998	132475998	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S|EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S			Q96L91	EP400_HUMAN	E1A binding protein p400	928					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488																																						ENST00000333577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				161						c.(2782-2784)tcT>tcC		E1A binding protein p400							167.0	170.0	169.0					12																	132475998		2203	4300	6503	SO:0001819	synonymous_variant	57634	0	0					g.chr12:132475998T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2784T>C	chr12.hg19:g.132475998T>C		0					EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S	p.S928S			1	2	3	2.012185	Q96L91	EP400_HUMAN		11	2893	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	1	hg19	c.2784T>C		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_015409			95	92		464	455	1		1	1		0	0	111	0		1	9.946695e-01	0	6	0	35	0	95	464
EP400	57634	broad.mit.edu	37	12	132498065	132498065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P|EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P			Q96L91	EP400_HUMAN	E1A binding protein p400	1250	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592																																						ENST00000333577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				161						c.(3748-3750)ccG>ccA		E1A binding protein p400							88.0	88.0	88.0					12																	132498065		2203	4300	6503	SO:0001819	synonymous_variant	57634	4	121410	40				g.chr12:132498065G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3750G>A	chr12.hg19:g.132498065G>A		0					EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P	p.P1250P			1	2	3	2.012185	Q96L91	EP400_HUMAN		19	3859	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	1	hg19	c.3750G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-3.985760	1	0.170000	NM_015409			110	109		386	382	1		1	1		0	0	88	0		1	9.999608e-01	0	15	0	39	0	110	386
EP400	57634	broad.mit.edu	37	12	132502101	132502101	+	Silent	SNP	C	C	T	rs540244111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S|EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S			Q96L91	EP400_HUMAN	E1A binding protein p400	1351	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597																																						ENST00000333577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				161						c.(4051-4053)agC>agT		E1A binding protein p400							89.0	83.0	85.0					12																	132502101		2203	4300	6503	SO:0001819	synonymous_variant	57634	2	121412	36				g.chr12:132502101C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4053C>T	chr12.hg19:g.132502101C>T		0					EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S	p.S1351S			1	2	3	2.012185	Q96L91	EP400_HUMAN		21	4162	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	1	hg19	c.4053C>T		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_015409			81	81		414	406	0		1	1		0	0	84	0		1	9.917660e-01	0	10	0	30	0	81	414
EP400	57634	broad.mit.edu	37	12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*			Q96L91	EP400_HUMAN	E1A binding protein p400	2006	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGGAGTGGTGCGATAGGA	0.507																																						ENST00000333577.4	1.000000	0.230000	5.000000e-01	2.900000e-01	0.380000	0.435932	0.380000	0.360000																										0				161						c.(6016-6018)tgG>tgA		E1A binding protein p400							150.0	147.0	148.0					12																	132516653		2203	4300	6503	SO:0001587	stop_gained	57634	0	0					g.chr12:132516653G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6018G>A	chr12.hg19:g.132516653G>A	ENSP00000333602:p.Trp2006*	0					EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*	p.W2006*			1	2	3	2.012185	Q96L91	EP400_HUMAN		31	6127	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	0	1	hg19	c.6018G>A		0	.	.	.	.	.	.	.	.	.	.	G	46	12.503708	0.99673	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	2006;1970;1969;1933;1889;1970	.	ENSP00000330620:W1889X	W	+	3	0	0	EP400	131082606	131082606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.445000	0.66594	2.793000	0.96121	0.563000	0.77884	TGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-3.548076	1	0.170000	NM_015409			20	20		628	616	0		1	0		0	0	125	0		9.999942e-01	4.348720e-01	0	0	0	46	0	20	628
EP400	57634	broad.mit.edu	37	12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F			Q96L91	EP400_HUMAN	E1A binding protein p400	2176					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289																																						ENST00000333577.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997655	0.990000	1.000000																										0				161						c.(6526-6528)tCt>tTt		E1A binding protein p400							46.0	46.0	46.0					12																	132528242		2202	4296	6498	SO:0001583	missense	57634	0	0					g.chr12:132528242C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6527C>T	chr12.hg19:g.132528242C>T	ENSP00000333602:p.Ser2176Phe	0					EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F	p.S2176F			1	2	3	2.012185	Q96L91	EP400_HUMAN		35	6636	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	1	1	hg19	c.6527C>T		1	.	.	.	.	.	.	.	.	.	.	C	4.909	0.168950	0.09339	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.72;-2.71;-2.72;-2.72;-2.72	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.421443	0.28803	N	0.014087	D	0.92424	0.7595	M	0.73962	2.25	0.09310	N	1	P;P;P	0.50617	0.937;0.937;0.937	P;P;P	0.49999	0.628;0.628;0.628	D	0.87876	0.2674	10	0.54805	T	0.06	.	14.739	0.69440	0.1446:0.8554:0.0:0.0	.	2140;2059;2139	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2176;2140;2139;2103;2059;2140	ENSP00000333602:S2176F;ENSP00000374212:S2140F;ENSP00000374213:S2139F;ENSP00000331737:S2103F;ENSP00000330620:S2059F	ENSP00000330620:S2059F	S	+	2	0	0	EP400	131094195	131094195	0.969000	0.33509	0.024000	0.17045	0.219000	0.24729	4.482000	0.60257	2.712000	0.92718	0.563000	0.77884	TCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.223731	1	0.170000	NM_015409			23	23		162	159	1		1	0		0	0	53	0		9.999995e-01	9.556006e-01	0	1	0	38	0	23	162
EP400	57634	broad.mit.edu	37	12	132549269	132549269	+	Silent	SNP	G	G	A	rs144085795	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132549269G>A	ENST00000333577.4	+	49	8608	c.8499G>A	c.(8497-8499)ccG>ccA	p.P2833P	EP400_ENST00000330386.6_Silent_p.P2716P|EP400_ENST00000332482.4_Silent_p.P2760P|EP400_ENST00000389562.2_Silent_p.P2796P|EP400_ENST00000389561.2_Silent_p.P2797P			Q96L91	EP400_HUMAN	E1A binding protein p400	2833	Poly-Pro.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCCCCCACCGCCACAGGCCC	0.587													G|||	18	0.00359425	0.0	0.0	5008	,	,		13204	0.0179		0.0	False		,,,				2504	0.0					ENST00000333577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				161						c.(8497-8499)ccG>ccA		E1A binding protein p400		G		1,4403		0,1,2201	31.0	46.0	41.0		8391	-6.3	0.1	12	dbSNP_134	41	1,8593		0,1,4296	no	coding-synonymous	EP400	NM_015409.4		0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154		2797/3124	132549269	2,12996	2202	4297	6499	SO:0001819	synonymous_variant	57634	293	121372	56				g.chr12:132549269G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8499G>A	chr12.hg19:g.132549269G>A		0					EP400_ENST00000330386.6_Silent_p.P2716P|EP400_ENST00000389562.2_Silent_p.P2796P|EP400_ENST00000389561.2_Silent_p.P2797P|EP400_ENST00000332482.4_Silent_p.P2760P	p.P2833P			1	2	3	2.012185	Q96L91	EP400_HUMAN		49	8608	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	0	hg19	c.8499G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.018055	1	0.170000	NM_015409			80	76		452	447	1		1	1		0	0	76	0		1	9.844457e-01	0	5	0	34	0	80	452
EP400	57634	broad.mit.edu	37	12	132554069	132554069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000332482.4_Silent_p.G2931G|EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657																																						ENST00000333577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				161						c.(9010-9012)ggC>ggT		E1A binding protein p400							74.0	75.0	75.0					12																	132554069		2203	4300	6503	SO:0001819	synonymous_variant	57634	1	121412	28				g.chr12:132554069C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9012C>T	chr12.hg19:g.132554069C>T		0					EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000332482.4_Silent_p.G2931G	p.G3004G			1	2	3	2.012185	Q96L91	EP400_HUMAN		52	9121	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	1	hg19	c.9012C>T		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-3.195445	1	0.170000	NM_015409			127	126		573	565	1		1	1		0	0	133	0		1	9.983586e-01	0	11	0	34	0	127	573
EP400	57634	broad.mit.edu	37	12	132561978	132561978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A|EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A			Q96L91	EP400_HUMAN	E1A binding protein p400	3080					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602																																						ENST00000333577.4	1.000000	0.270000	6.100000e-01	3.500000e-01	0.450000	0.503591	0.450000	0.440000																										0				161						c.(9238-9240)gcG>gcA		E1A binding protein p400							41.0	46.0	44.0					12																	132561978		2187	4272	6459	SO:0001819	synonymous_variant	57634	0	0					g.chr12:132561978G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9240G>A	chr12.hg19:g.132561978G>A		0					RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000332482.4_Silent_p.A3007A	p.A3080A			1	2	3	2.012185	Q96L91	EP400_HUMAN		54	9349	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	1	1	hg19	c.9240G>A		0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-16.799510	1	0.170000	NM_015409			18	17		471	462	0		1	1		0	0	77	0		9.999790e-01	7.450368e-01	0	3	0	68	0	18	471
DDX51	317781	broad.mit.edu	37	12	132625245	132625245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	492					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657																																						ENST00000397333.3	1.000000	0.670000	1	8.000000e-01	0.970000	0.924196	0.970000	1.000000																										0				10						c.(1474-1476)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63.0	75.0	71.0					12																	132625245		2071	4207	6278	SO:0001819	synonymous_variant	317781	0	0					g.chr12:132625245C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1476G>A	chr12.hg19:g.132625245C>T		0						p.P492P	NM_175066.3	NP_778236.2	1	2	3	2.012185	Q8N8A6	DDX51_HUMAN		10	1514	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	1	1	hg19	c.1476G>A	CCDS41865.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.221883	1	0.170000	NM_175066			31	30		355	350	0		1	1		0	0	77	0		1	8.569135e-01	0	5	0	37	0	31	355
DDX51	317781	broad.mit.edu	37	12	132626412	132626412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577																																						ENST00000397333.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(976-978)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63.0	64.0	63.0					12																	132626412		1949	4148	6097	SO:0001819	synonymous_variant	317781	0	0					g.chr12:132626412C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.978G>A	chr12.hg19:g.132626412C>T		0					NOC4L_ENST00000330579.1_5'Flank	p.E326E	NM_175066.3	NP_778236.2	1	2	3	2.012185	Q8N8A6	DDX51_HUMAN		6	1016	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	1	1	hg19	c.978G>A	CCDS41865.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-19.999920	1	0.170000	NM_175066			45	45		227	225	1		1	1		0	0	49	0		1	9.972137e-01	0	12	0	36	0	45	227
DDX51	317781	broad.mit.edu	37	12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	220					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627																																						ENST00000397333.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(658-660)Tcc>Ccc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							61.0	68.0	65.0					12																	132627285		2075	4197	6272	SO:0001583	missense	317781	0	0					g.chr12:132627285A>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.658T>C	chr12.hg19:g.132627285A>G	ENSP00000380495:p.Ser220Pro	0					NOC4L_ENST00000330579.1_5'Flank	p.S220P	NM_175066.3	NP_778236.2	1	2	3	2.012185	Q8N8A6	DDX51_HUMAN		3	696	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	1	1	hg19	c.658T>C	CCDS41865.1	1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168370	0.38315	.	.	ENSG00000185163	ENST00000397333	T	0.02103	4.45	4.57	0.326	0.15908	4.57	0.326	0.15908	DEAD-like helicase (1);	0.501813	0.22809	N	0.055367	T	0.03915	0.0110	M	0.80746	2.51	0.22468	N	0.99908	P	0.44986	0.847	B	0.42738	0.396	T	0.32052	-0.9921	10	0.35671	T	0.21	-19.5276	5.8345	0.18599	0.5219:0.3214:0.0:0.1567	.	220	Q8N8A6	DDX51_HUMAN	P	220	ENSP00000380495:S220P	ENSP00000380495:S220P	S	-	1	0	0	DDX51	131193238	131193238	0.380000	0.25131	0.325000	0.25375	0.683000	0.39861	0.895000	0.28363	0.111000	0.17947	0.402000	0.26972	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_175066			73	73		303	297	1		1	1		0	0	71	0		1	9.706457e-01	0	6	0	20	0	73	303
NOC4L	79050	broad.mit.edu	37	12	132636135	132636135	+	Silent	SNP	C	C	T	rs373511960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636135C>T	ENST00000330579.1	+	12	1221	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	NOC4L_ENST00000538784.1_Silent_p.L9L|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	394					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CATCTGTAACCTGCTGCGCCG	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		13210	0.0		0.001	False		,,,				2504	0.0					ENST00000330579.1	1.000000	0.220000	8.400000e-01	3.500000e-01	0.530000	0.578938	0.530000	1.000000																										0				14						c.(1180-1182)Ctg>Ttg		nucleolar complex associated 4 homolog (S. cerevisiae)		C		1,4367		0,1,2183	18.0	21.0	20.0		1180	0.8	1.0	12		20	2,8556		0,2,4277	no	coding-synonymous	NOC4L	NM_024078.1		0,3,6460	TT,TC,CC		0.0234,0.0229,0.0232		394/517	132636135	3,12923	2184	4279	6463	SO:0001819	synonymous_variant	79050	35	120290	42				g.chr12:132636135C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1180C>T	chr12.hg19:g.132636135C>T		0					NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.L9L	p.L394L	NM_024078.1	NP_076983.1	1	2	3	2.012185	Q9BVI4	NOC4L_HUMAN		12	1221	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	0	1	hg19	c.1180C>T	CCDS9277.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-9.456253	1	0.170000	NM_024078			6	6		141	141	0		1	1		0	0	25	0		9.659693e-01	5.492109e-01	0	11	0	30	0	6	141
NOC4L	79050	broad.mit.edu	37	12	132636673	132636673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	454					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692																																						ENST00000330579.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				14						c.(1360-1362)agC>agT		nucleolar complex associated 4 homolog (S. cerevisiae)							40.0	33.0	36.0					12																	132636673		2196	4288	6484	SO:0001819	synonymous_variant	79050	2	120692	30				g.chr12:132636673C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1362C>T	chr12.hg19:g.132636673C>T		0					NOC4L_ENST00000538784.1_Silent_p.S69S	p.S454S	NM_024078.1	NP_076983.1	1	2	3	2.012185	Q9BVI4	NOC4L_HUMAN		14	1403	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	1	1	hg19	c.1362C>T	CCDS9277.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_024078			28	28		154	152	1		1	1		0	0	43	0		1	9.997560e-01	0	19	0	56	0	28	154
NOC4L	79050	broad.mit.edu	37	12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	459					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692																																						ENST00000330579.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999247	0.990000	1.000000																										0				14						c.(1375-1377)gCc>gTc		nucleolar complex associated 4 homolog (S. cerevisiae)							42.0	35.0	38.0					12																	132636687		2198	4290	6488	SO:0001583	missense	79050	0	0					g.chr12:132636687C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1376C>T	chr12.hg19:g.132636687C>T	ENSP00000328854:p.Ala459Val	0					NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	p.A459V	NM_024078.1	NP_076983.1	1	2	3	2.012185	Q9BVI4	NOC4L_HUMAN		14	1417	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	1	1	hg19	c.1376C>T	CCDS9277.1	1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948946	0.18356	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.30448	1.53;1.53	4.59	-2.23	0.06930	4.59	-2.23	0.06930	.	0.527270	0.19773	N	0.106394	T	0.15305	0.0369	N	0.22421	0.69	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.41790	T	0.15	-3.0191	5.1389	0.14948	0.1287:0.4935:0.0:0.3778	.	459	Q9BVI4	NOC4L_HUMAN	V	459;74	ENSP00000328854:A459V;ENSP00000443336:A74V	ENSP00000328854:A459V	A	+	2	0	0	NOC4L	131202640	131202640	0.088000	0.21588	0.006000	0.13384	0.280000	0.26924	0.526000	0.22971	-0.980000	0.03524	0.478000	0.44815	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_024078			24	24		153	151	1		1	1		0	0	43	0		9.999998e-01	9.999475e-01	0	22	0	83	0	24	153
GALNT9	50614	broad.mit.edu	37	12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	569	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)|protein O-linked glycosylation (GO:0006493)	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)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1705-1707)Gag>Aag		polypeptide N-acetylgalactosaminyltransferase 9							54.0	64.0	60.0					12																	132681759		2070	4212	6282	SO:0001583	missense	50614	0	0					g.chr12:132681759C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1705G>A	chr12.hg19:g.132681759C>T	ENSP00000329846:p.Glu569Lys	0					GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	p.E569K	NM_001122636.1	NP_001116108.1	1	2	3	2.012185	Q9HCQ5	GALT9_HUMAN		11	1704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	1	1	hg19	c.1705G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	34|34	5.330857|5.330857	0.95733|0.95733	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	4.45|4.45	4.45|4.45	0.53987|0.53987	4.45|4.45	4.45|4.45	0.53987|0.53987	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.42905|.	T|.	0.14|.	.|.	17.0974|17.0974	0.86639|0.86639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;569;426|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	203;569;320;203|341	ENSP00000380488:E203K;ENSP00000329846:E569K;ENSP00000439745:E320K;ENSP00000440544:E203K|.	ENSP00000329846:E569K|.	E|G	-|-	1|2	0|0	0|0	GALNT9|GALNT9	131247712|131247712	131247712|131247712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.545000|7.545000	0.82128|0.82128	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|GGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_001122636			56	54		282	277	1		1	0		0	0	56	0		1	7.570582e-02	0	0	0	3	0	56	282
P2RX2	22953	broad.mit.edu	37	12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I	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	109					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)			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)		AGCGTGTTCAGCATCATCACC	0.741																																						ENST00000389110.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				20						c.(325-327)aGc>aTc		purinergic receptor P2X, ligand-gated ion channel, 2							14.0	17.0	16.0					12																	133196281		2191	4279	6470	SO:0001583	missense	22953	0	0					g.chr12:133196281G>T	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.326G>T	chr12.hg19:g.133196281G>T	ENSP00000373762:p.Ser109Ile	0					P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000350048.5_Intron	p.S109I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	1	2	3	2.012185	Q9UBL9	P2RX2_HUMAN		3	363	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	1	1	hg19	c.326G>T	CCDS31931.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.049789|3.049789	0.55218|0.55218	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	4.03|4.03	3.09|3.09	0.35607|0.35607	4.03|4.03	3.09|3.09	0.35607|0.35607	.|.	.|0.141387	.|0.64402	.|D	.|0.000007	T|T	0.08313|0.08313	0.0207|0.0207	M|M	0.61703|0.61703	1.905|1.905	0.42033|0.42033	D|D	0.991037|0.991037	.|P;D;P;P	.|0.53745	.|0.837;0.962;0.837;0.646	.|B;P;B;B	.|0.46825	.|0.334;0.528;0.416;0.225	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.72032	.|D	.|0.01	-32.2742|-32.2742	8.6119|8.6119	0.33808|0.33808	0.0:0.2552:0.6078:0.137|0.0:0.2552:0.6078:0.137	.|.	.|109;109;109;109	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|I	120;95;65|109	.|ENSP00000373762:S109I;ENSP00000343339:S109I;ENSP00000345095:S109I	.|ENSP00000343339:S109I	A|S	+|+	1|2	0|0	0|0	P2RX2|P2RX2	131706354|131706354	131706354|131706354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	3.291000|3.291000	0.51764|0.51764	2.072000|2.072000	0.62099|0.62099	0.511000|0.511000	0.50034|0.50034	GCA|AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				35	34		171	169	0		1	0		0	0	29	0		1	0	0	0	0	1	0	35	171
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					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.A2243S(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)	ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										2	Substitution - Missense(2)	p.A2243S(2)	lung(2)	89						c.(6727-6729)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						96.0	95.0	96.0					12																	133201511		2203	4300	6503	SO:0001583	missense	5426	3	121408	34				g.chr12:133201511C>T		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.6727G>A	chr12.hg19:g.133201511C>T	ENSP00000322570:p.Ala2243Thr	0					POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	p.A2243T	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		48	6770	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.6727G>A	CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	0	POLE	131711584	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.400739	1	0.170000	NM_006231			39	39		186	185	1		1	1		0	0	56	0		1	9.981093e-01	0	16	0	33	0	39	186
POLE	5426	broad.mit.edu	37	12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000535270.1_Missense_Mutation_p.H1413R|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1440					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)			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)	ACAGCCCAGGTGCACCAGGGC	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(4318-4320)cAc>cGc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						141.0	133.0	136.0					12																	133220118		2203	4300	6503	SO:0001583	missense	5426	0	0					g.chr12:133220118T>C		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.4319A>G	chr12.hg19:g.133220118T>C	ENSP00000322570:p.His1440Arg	0					POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	p.H1440R	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		34	4362	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.4319A>G	CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997892	0.35226	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.16324	2.35;2.35;2.35	5.87	4.74	0.60224	5.87	4.74	0.60224	.	0.387057	0.31936	N	0.006830	T	0.07954	0.0199	N	0.05199	-0.095	0.25251	N	0.989672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.48119	T	0.1	.	6.5082	0.22206	0.1376:0.0728:0.0:0.7895	.	1413;1440	F5H1D6;Q07864	.;DPOE1_HUMAN	R	1440;1451;1413	ENSP00000322570:H1440R;ENSP00000406383:H1451R;ENSP00000445753:H1413R	ENSP00000322570:H1440R	H	-	2	0	0	POLE	131730191	131730191	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.734000	0.47368	1.087000	0.41251	0.524000	0.50904	CAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	0		23	2	2	1		1	1	212		212	210	1	2.060000	-20.000000	1	0.170000	NM_006231			177	174		868	852	1		1	0		1	0	212	0		1	8.085525e-01	0	1	0	16	0	177	868
POLE	5426	broad.mit.edu	37	12	133225890	133225890	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						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)			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)	CAAGGTCTATACCTGCACAAT	0.652								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				89						c.e31+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						29.0	27.0	28.0					12																	133225890		2203	4300	6503	SO:0001630	splice_region_variant	5426	0	0					g.chr12:133225890A>G		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.4005+1T>C	chr12.hg19:g.133225890A>G		0					POLE_ENST00000535270.1_Splice_Site		NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		31	4049	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	1	1	hg19		CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008225	0.75046	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0387	0.80648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	POLE	131735963	131735963	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.271000	0.78506	2.188000	0.69820	0.454000	0.30748	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006231	Intron		33	33		194	191	1		1			0	0	43	0		1	0	0	0	0	0	0	33	194
POLE	5426	broad.mit.edu	37	12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1327					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)			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)	GGAAGGTCCAGGATGCTGCGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(3979-3981)Ctg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						32.0	31.0	31.0					12																	133225918		2203	4299	6502	SO:0001583	missense	5426	0	0					g.chr12:133225918G>T		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.3979C>A	chr12.hg19:g.133225918G>T	ENSP00000322570:p.Leu1327Met	0					POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	p.L1327M	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		31	4022	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.3979C>A	CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558197	0.45590	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.71	1.6	0.23607	5.71	1.6	0.23607	.	0.066612	0.64402	N	0.000008	T	0.37785	0.1016	L	0.56396	1.775	0.45946	D	0.998771	B;B	0.21606	0.045;0.058	B;B	0.31245	0.126;0.059	T	0.17018	-1.0383	10	0.48119	T	0.1	.	6.7582	0.23526	0.2102:0.0:0.6645:0.1254	.	1300;1327	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1327;1338;1300;1107;304	ENSP00000322570:L1327M;ENSP00000406383:L1338M;ENSP00000445753:L1300M;ENSP00000442519:L1107M	ENSP00000322570:L1327M	L	-	1	2	2	POLE	131735991	131735991	1.000000	0.71417	0.662000	0.29724	0.744000	0.42396	3.979000	0.56888	0.282000	0.22254	-0.300000	0.09419	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_006231			50	50		250	244	1		1	1		0	0	49	0		1	8.001749e-01	0	6	0	11	0	50	250
POLE	5426	broad.mit.edu	37	12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	724					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)			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)	GCACTCACCCGCCAGCCTTCT	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.310000	5.900000e-01	3.800000e-01	0.460000	0.511139	0.460000	0.450000																										0				89						c.(2170-2172)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)	G	VAL/ALA	0,4406		0,0,2203	112.0	106.0	108.0		2171	5.8	1.0	12	dbSNP_129	108	7,8593	5.7+/-21.5	0,7,4293	yes	missense	POLE	NM_006231.2	64	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	724/2287	133244944	7,12999	2203	4300	6503	SO:0001583	missense	5426	34	121348	50				g.chr12:133244944G>A		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.2171C>T	chr12.hg19:g.133244944G>A	ENSP00000322570:p.Ala724Val	0					POLE_ENST00000535270.1_Missense_Mutation_p.A697V	p.A724V	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		19	2214	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.2171C>T	CCDS9278.1	0	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	8.14E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.79	5.79	0.91817	5.79	5.79	0.91817	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.101295	0.64402	D	0.000002	T	0.26774	0.0655	L	0.55990	1.75	0.47094	D	0.999313	P;P	0.37688	0.605;0.478	B;B	0.36666	0.147;0.23	T	0.01532	-1.1331	10	0.49607	T	0.09	.	20.212	0.98289	0.0:0.0:1.0:0.0	.	697;724	F5H1D6;Q07864	.;DPOE1_HUMAN	V	724;735;697;504;659	ENSP00000322570:A724V;ENSP00000406383:A735V;ENSP00000445753:A697V;ENSP00000442519:A504V	ENSP00000322570:A724V	A	-	2	0	0	POLE	131755017	131755017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.538000	0.82048	2.780000	0.95670	0.545000	0.68477	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	1		2	2	2	0		0	0	141		141	132	1	2.060000	-3.262121	1	0.170000	NM_006231			29	30		733	696	0		1	0		0	0	141	0		1	7.964301e-02	0	0	0	12	0	29	733
POLE	5426	broad.mit.edu	37	12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	441					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)			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)	CATGTCCTCCGGGTCTAGCTC	0.637								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(1321-1323)cCg>cTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						124.0	117.0	119.0					12																	133250198		2203	4300	6503	SO:0001583	missense	5426	2	121412	36				g.chr12:133250198G>A		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.1322C>T	chr12.hg19:g.133250198G>A	ENSP00000322570:p.Pro441Leu	0					POLE_ENST00000535270.1_Missense_Mutation_p.P414L	p.P441L	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		13	1365	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.1322C>T	CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935356	0.73442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.16196	4.83;4.83;4.83;2.36	5.62	5.62	0.85841	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72773	-0.4192	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	414;441	F5H1D6;Q07864	.;DPOE1_HUMAN	L	441;452;414;221;376;59	ENSP00000322570:P441L;ENSP00000406383:P452L;ENSP00000445753:P414L;ENSP00000442519:P221L	ENSP00000322570:P441L	P	-	2	0	0	POLE	131760271	131760271	1.000000	0.71417	0.971000	0.41717	0.024000	0.10985	9.735000	0.98825	2.660000	0.90430	0.305000	0.20034	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	1		17	2	2	1		1	1	169		169	169	1	2.060000	-2.693822	1	0.170000	NM_006231			161	157		682	675	1		1	1		1	0	169	0		1	5.959016e-01	0	6	0	4	0	161	682
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (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.P286H(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)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														ENST00000320574.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										1	Substitution - Missense(1)	p.P286H(1)	large_intestine(1)	89						c.(856-858)cCt>cGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit	Cladribine(DB00242)						115.0	99.0	104.0					12																	133253184		2203	4300	6503	SO:0001583	missense	5426	0	0					g.chr12:133253184G>C		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.857C>G	chr12.hg19:g.133253184G>C	ENSP00000322570:p.Pro286Arg	0					POLE_ENST00000535270.1_Missense_Mutation_p.P259R	p.P286R	NM_006231.2	NP_006222.2	1	2	3	2.012185	Q07864	DPOE1_HUMAN		9	900	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	1	1	hg19	c.857C>G	CCDS9278.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	0	POLE	131763257	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.167773	1	0.170000	NM_006231			38	37		202	199	1		1	1		0	0	47	0		1	5.449858e-01	0	2	0	9	0	38	202
ANKLE2	23141	broad.mit.edu	37	12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000357997.5	-	11	2394	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	769					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)			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)		CTTTCTACTGCATTGATTCTT	0.423																																						ENST00000357997.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2305-2307)Gca>Aca		ankyrin repeat and LEM domain containing 2							164.0	157.0	159.0					12																	133306443		1967	4164	6131	SO:0001583	missense	23141	0	0					g.chr12:133306443C>T	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.2305G>A	chr12.hg19:g.133306443C>T	ENSP00000350686:p.Ala769Thr	0					ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T	p.A769T	NM_015114.1	NP_055929.1	1	2	3	2.012185	Q86XL3	ANKL2_HUMAN		11	2394	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	1	1	hg19	c.2305G>A	CCDS41869.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581649	0.28180	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.45668	1.92;1.91;0.89;0.89;0.89	5.59	-5.42	0.02640	5.59	-5.42	0.02640	.	2.199350	0.01281	N	0.009726	T	0.32675	0.0837	L	0.54323	1.7	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.13176	-1.0519	10	0.41790	T	0.15	-12.5222	1.7488	0.02967	0.1812:0.1285:0.3542:0.3362	.	769	Q86XL3	ANKL2_HUMAN	T	707;769;124;124;124	ENSP00000446268:A707T;ENSP00000350686:A769T;ENSP00000437807:A124T;ENSP00000438551:A124T;ENSP00000445760:A124T	ENSP00000350686:A769T	A	-	1	0	0	ANKLE2	131816516	131816516	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.363000	0.07593	-0.884000	0.03976	-0.872000	0.02987	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				79	79		399	393	1		1	1		0	0	82	0		1	1	0	37	0	95	0	79	399
ANKLE2	23141	broad.mit.edu	37	12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000357997.5	-	2	489	c.400C>A	c.(400-402)Cca>Aca	p.P134T	ANKLE2_ENST00000539605.1_Missense_Mutation_p.P72T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	134					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)			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)		ATCCTTTGTGGGTCCTGGCTG	0.483																																						ENST00000357997.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(400-402)Cca>Aca		ankyrin repeat and LEM domain containing 2							60.0	61.0	61.0					12																	133331501		1909	4130	6039	SO:0001583	missense	23141	0	0					g.chr12:133331501G>T	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.400C>A	chr12.hg19:g.133331501G>T	ENSP00000350686:p.Pro134Thr	0					ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P72T	p.P134T	NM_015114.1	NP_055929.1	1	2	3	2.012185	Q86XL3	ANKL2_HUMAN		2	489	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	1	1	hg19	c.400C>A	CCDS41869.1	1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304815	0.01353	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27104	2.11;2.12;1.69	5.27	0.0898	0.14460	5.27	0.0898	0.14460	.	0.936787	0.09106	N	0.847758	T	0.04003	0.0112	N	0.00099	-2.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.02654	T	1	-5.3471	5.8122	0.18471	0.0:0.1446:0.2667:0.5888	.	134;134	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	72;134;134	ENSP00000446268:P72T;ENSP00000350686:P134T;ENSP00000337651:P134T	ENSP00000337651:P134T	P	-	1	0	0	ANKLE2	131841574	131841574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.065000	0.11617	-0.217000	0.10033	-0.265000	0.10407	CCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.927966	1	0.170000				67	66		225	221	1		1	1		0	0	50	0		1	1	0	36	0	96	0	67	225
GOLGA3	2802	broad.mit.edu	37	12	133349840	133349840	+	Missense_Mutation	SNP	C	C	T	rs144951708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133349840C>T	ENST00000450791.2	-	23	4531	c.4348G>A	c.(4348-4350)Gcc>Acc	p.A1450T	GOLGA3_ENST00000204726.3_Missense_Mutation_p.A1450T			Q08378	GOGA3_HUMAN	golgin A3	1450					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACCGTCAGGGCGTGCTCCTCC	0.687																																						ENST00000450791.2	1.000000	0.750000	1	9.900000e-01	0.990000	0.983948	0.990000	1.000000																										0				64						c.(4348-4350)Gcc>Acc		golgin A3		C	THR/ALA	0,4394		0,0,2197	28.0	25.0	26.0		4348	2.2	1.0	12	dbSNP_134	26	1,8583		0,1,4291	no	missense	GOLGA3	NM_005895.3	58	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	benign	1450/1499	133349840	1,12977	2197	4292	6489	SO:0001583	missense	2802	1	119722	28				g.chr12:133349840C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4348G>A	chr12.hg19:g.133349840C>T	ENSP00000410378:p.Ala1450Thr	0					GOLGA3_ENST00000204726.3_Missense_Mutation_p.A1450T	p.A1450T			1	2	3	2.012185	Q08378	GOGA3_HUMAN		23	4531	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	0	0	hg19	c.4348G>A	CCDS9281.1	1	.	.	.	.	.	.	.	.	.	.	C	2.781	-0.253470	0.05829	0.0	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.15372	2.43;2.43	5.81	2.18	0.27775	5.81	2.18	0.27775	.	0.133303	0.64402	N	0.000002	T	0.04137	0.0115	N	0.01048	-1.04	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42189	-0.9466	10	0.02654	T	1	.	9.2979	0.37827	0.0:0.2125:0.0:0.7875	.	1450	Q08378	GOGA3_HUMAN	T	1450	ENSP00000204726:A1450T;ENSP00000410378:A1450T	ENSP00000204726:A1450T	A	-	1	0	0	GOLGA3	131859913	131859913	1.000000	0.71417	0.973000	0.42090	0.161000	0.22273	1.502000	0.35704	0.124000	0.18369	-0.295000	0.09555	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-15.662850	1	0.170000	NM_005895			6	6		33	32	1		1	1		0	0	8	0		9.665047e-01	9.716207e-01	0	8	0	31	0	6	33
GOLGA3	2802	broad.mit.edu	37	12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000450791.2	-	16	3503	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S			Q08378	GOGA3_HUMAN	golgin A3	1107					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N1107S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	0.468																																						ENST00000450791.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.N1107S(1)	upper_aerodigestive_tract(1)	64						c.(3319-3321)aAc>aGc		golgin A3							165.0	161.0	162.0					12																	133359027		2203	4300	6503	SO:0001583	missense	2802	0	0					g.chr12:133359027T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3320A>G	chr12.hg19:g.133359027T>C	ENSP00000410378:p.Asn1107Ser	0					GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S	p.N1107S			1	2	3	2.012185	Q08378	GOGA3_HUMAN		16	3503	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	1	1	hg19	c.3320A>G	CCDS9281.1	1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975351	0.53720	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32753	1.44;1.44;1.45	6.07	4.92	0.64577	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50145	-0.8862	10	0.26408	T	0.33	.	12.2323	0.54495	0.0:0.0661:0.0:0.9339	.	1107;1107	Q08378-2;Q08378	.;GOGA3_HUMAN	S	1107	ENSP00000204726:N1107S;ENSP00000410378:N1107S;ENSP00000409303:N1107S	ENSP00000204726:N1107S	N	-	2	0	0	GOLGA3	131869100	131869100	1.000000	0.71417	0.841000	0.33234	0.148000	0.21650	6.113000	0.71553	1.110000	0.41699	0.533000	0.62120	AAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	1	0	1		18	4	2	1		1	1	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_005895			124	121		595	588	1		1	1		1	0	143	0		1	9.998743e-01	0	25	0	63	0	124	595
CHFR	55743	broad.mit.edu	37	12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000432561.2	-	12	1578	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	502					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)			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)		GACACGCGGGTCCTGCTCGCG	0.657																																						ENST00000432561.2	1.000000	0.410000	6.700000e-01	4.700000e-01	0.550000	0.596518	0.550000	0.550000																										0				26						c.(1504-1506)gAc>gGc		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							81.0	87.0	85.0					12																	133428227		2203	4300	6503	SO:0001583	missense	55743	0	0					g.chr12:133428227T>C	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.1505A>G	chr12.hg19:g.133428227T>C	ENSP00000392395:p.Asp502Gly	0					CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G	p.D502G			1	2	3	2.012185	Q96EP1	CHFR_HUMAN		12	1578	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	1	1	hg19	c.1505A>G	CCDS53849.1	0	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744314	0.15710	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	3.6	0.41247	5.93	3.6	0.41247	.	0.444283	0.27035	N	0.021257	T	0.23926	0.0579	L	0.40543	1.245	0.32812	D	0.501575	P;B;B;B;B	0.35575	0.51;0.071;0.042;0.071;0.029	B;B;B;B;B	0.36567	0.228;0.167;0.08;0.167;0.096	T	0.25433	-1.0132	10	0.20519	T	0.43	-17.3777	10.1814	0.42970	0.0:0.1336:0.0:0.8664	.	410;501;502;490;461	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	G	461;410;490;501;124;302;502	ENSP00000320557:D461G;ENSP00000416431:D410G;ENSP00000398735:D490G;ENSP00000266880:D501G;ENSP00000442327:D124G;ENSP00000392395:D502G	ENSP00000266880:D501G	D	-	2	0	0	CHFR	131938300	131938300	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	2.505000	0.45424	0.513000	0.28278	-0.250000	0.11733	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2	1	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-20.000000	1	0.170000				49	49		1010	989	0		1	1		0	0	173	0		1	5.752655e-01	0	3	0	38	0	49	1010
ZNF10	7556	broad.mit.edu	37	12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413																																						ENST00000248211.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(985-987)tCc>tAc		zinc finger protein 10							97.0	104.0	102.0					12																	133732818		2203	4300	6503	SO:0001583	missense	7556	0	0					g.chr12:133732818C>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.986C>A	chr12.hg19:g.133732818C>A	ENSP00000248211:p.Ser329Tyr	0					ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|CTD-2140B24.4_ENST00000540096.2_Intron	p.S329Y	NM_015394.4	NP_056209.2	1	2	3	2.012185	P21506	ZNF10_HUMAN		5	1208	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	1	1	hg19	c.986C>A	CCDS9283.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370099	0.24771	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.51574	0.7;0.7;3.1	3.92	1.81	0.25067	3.92	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.902656	0.09051	N	0.855773	T	0.44222	0.1283	L	0.54323	1.7	0.19300	N	0.999971	B	0.30664	0.289	B	0.30401	0.115	T	0.34625	-0.9821	9	.	.	.	.	12.4812	0.55844	0.0:0.3598:0.6402:0.0	.	329	P21506	ZNF10_HUMAN	Y	329;329;195	ENSP00000248211:S329Y;ENSP00000393814:S329Y;ENSP00000384893:S195Y	.	S	+	2	0	0	ZNF10	132242891	132242891	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	0.657000	0.24963	0.917000	0.36895	0.655000	0.94253	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_015394			79	76		377	361	1		1	0		0	0	81	0		1	6.430698e-01	0	0	0	12	0	79	377
ZNF268	10795	broad.mit.edu	37	12	133778993	133778993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133778993C>T	ENST00000536435.2	+	6	1051	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	241					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAACATGAGCAAACTGTTAT	0.313																																						ENST00000536435.2	1.000000	0.260000	1	4.300000e-01	0.690000	0.702612	0.690000	1.000000																										0				24						c.(721-723)Caa>Taa		zinc finger protein 268							42.0	42.0	42.0					12																	133778993		1843	4085	5928	SO:0001587	stop_gained	10795	0	0					g.chr12:133778993C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.721C>T	chr12.hg19:g.133778993C>T	ENSP00000444412:p.Gln241*	0					ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*	p.Q241*	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	1	2	3	2.012185	Q14587	ZN268_HUMAN		6	1051	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	Q8TDG8|Q96RH4|Q9BZJ9	Nonsense_Mutation	SNP	ENST00000536435.2	0	1	hg19	c.721C>T	CCDS45012.1	0	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832828	0.50951	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	.	.	.	4.13	0.00634	0.14066	4.13	0.00634	0.14066	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5718	0.22543	0.4768:0.359:0.1641:0.0	.	.	.	.	X	241;241;80;80	.	.	Q	+	1	0	0	ZNF268	132289066	132289066	0.001000	0.12720	0.003000	0.11579	0.060000	0.15804	-0.163000	0.09997	0.099000	0.17552	0.637000	0.83480	CAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-8.885000	1	0.170000	NM_152943			5	5		90	88	0		1	1		0	0	21	0		9.357552e-01	2.396306e-01	0	3	0	12	0	5	90
ZNF268	10795	broad.mit.edu	37	12	133779301	133779301	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	ENST00000536435.2	+	6	1359	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F|ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	343					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATTCAGTTTCCATTCACAGC	0.393																																						ENST00000536435.2			0	0																														0				24						c.(1027-1029)ttC>ttT		zinc finger protein 268							32.0	34.0	34.0					12																	133779301		2173	4284	6457	SO:0001819	synonymous_variant	10795	1	121264	24				g.chr12:133779301C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1029C>T	chr12.hg19:g.133779301C>T							ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F	p.F343F	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1					Q14587	ZN268_HUMAN		6	1359	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	1	1	hg19	c.1029C>T	CCDS45012.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.999330	1	0.170000	NM_152943			13	13		65	62	1		1	1		0	0	21	0		9.995983e-01	9.235007e-01	0	4	0	21	0	13	65
IQSEC3	440073	broad.mit.edu	37	12	176596	176596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	183					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)			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)		CTGAGCAGGAGACCTGAGTGA	0.647																																						ENST00000538872.1			0	0																														0				35						c.(547-549)aGa>aTa		IQ motif and Sec7 domain 3							27.0	36.0	33.0					12																	176596		1568	3582	5150	SO:0001583	missense	440073	0	0					g.chr12:176596G>T	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.548G>T	chr12.hg19:g.176596G>T	ENSP00000437554:p.Arg183Ile						IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I	p.R183I							Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	1	666	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	1	1	hg19	c.548G>T	CCDS53728.1		.	.	.	.	.	.	.	.	.	.	g	16.82	3.227833	0.58777	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10192	2.9;2.9	4.28	4.28	0.50868	4.28	4.28	0.50868	.	7.977520	0.00166	N	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.47994	D	0.999564	.	.	.	.	.	.	T	0.17899	-1.0354	8	0.46703	T	0.11	.	7.9494	0.30006	0.1103:0.0:0.8897:0.0	.	.	.	.	I	183	ENSP00000437554:R183I;ENSP00000315662:R183I	ENSP00000315662:R183I	R	+	2	0	0	IQSEC3	46857	46857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.187000	0.69744	0.561000	0.74099	AGA			TCGA-IB-7651-01A-11D-2154-08	0.647	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1		2	2	2	0		0	0	30		30	37	1	2.060000	-20.000000	1	0.170000	XM_495902			19	16		126	114	1		1			0	0	30	0		9.999830e-01	0	0	0	0	0	0	19	126
IQSEC3	440073	broad.mit.edu	37	12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	693	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)			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)		CCTCCTCCAGCGAAAGGGCCT	0.612																																						ENST00000538872.1			0	0																														0				35						c.(2077-2079)Cga>Tga		IQ motif and Sec7 domain 3							98.0	93.0	94.0					12																	250375		2203	4300	6503	SO:0001587	stop_gained	440073	1	121412	30				g.chr12:250375C>T	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.2077C>T	chr12.hg19:g.250375C>T	ENSP00000437554:p.Arg693*						RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*	p.R693*							Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	5	2195	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		A6NIF2|A6NKV9|Q8TB43	Nonsense_Mutation	SNP	ENST00000538872.1	0	1	hg19	c.2077C>T	CCDS53728.1		.	.	.	.	.	.	.	.	.	.	C	40	8.302209	0.98750	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	.	.	.	5.83	3.83	0.44106	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0142	0.64515	0.3356:0.6644:0.0:0.0	.	.	.	.	X	693;693;390	.	ENSP00000315662:R693X	R	+	1	2	2	IQSEC3	120636	120636	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.531000	0.36018	2.763000	0.94921	0.561000	0.74099	CGA			TCGA-IB-7651-01A-11D-2154-08	0.612	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-19.999960	1	0.170000	XM_495902			64	63		451	444	1		1	0		0	0	125	0		1	3.144684e-01	0	0	0	9	0	64	451
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	IQSEC3_ENST00000382841.2_Silent_p.I527I|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.I830I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	830	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)			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)		TGGTAGGCATCTATGAGAGGA	0.577																																						ENST00000538872.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				35						c.(2488-2490)atC>atA		IQ motif and Sec7 domain 3							115.0	78.0	91.0					12																	271138		2203	4299	6502	SO:0001819	synonymous_variant	440073	0	0					g.chr12:271138C>A	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.2490C>A	chr12.hg19:g.271138C>A		0					RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I	p.I830I			0	0	0	1.930325	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	8	2608	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	1	1	hg19	c.2490C>A	CCDS53728.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	XM_495902			27	26		101	98	0		1	0		0	0	34	0		1	4.622189e-01	0	0	0	7	0	27	101
IQSEC3	440073	broad.mit.edu	37	12	274980	274980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	IQSEC3_ENST00000382841.2_Silent_p.D662D|RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Silent_p.D965D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	965	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)			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)		TGGGCTCGGACGAGATGCAGA	0.582																																						ENST00000538872.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2893-2895)gaC>gaT		IQ motif and Sec7 domain 3							76.0	73.0	74.0					12																	274980		2203	4300	6503	SO:0001819	synonymous_variant	440073	2	121408	30				g.chr12:274980C>T	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.2895C>T	chr12.hg19:g.274980C>T		0					RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.D662D|IQSEC3_ENST00000326261.4_Silent_p.D965D	p.D965D			0	0	0	1.930325	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	11	3013	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	1	1	hg19	c.2895C>T	CCDS53728.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	XM_495902			51	49		203	201	0		1	0		0	0	66	0		1	5.672745e-01	0	0	0	9	0	51	203
KDM5A	5927	broad.mit.edu	37	12	432350	432350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	725					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)			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						AGAGAAGGGAGGTCTTCTAAT	0.328			T	NUP98	AML																																	ENST00000399788.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000				Dom	yes			Dom	yes		12	12p11	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""				L	L	NUP98		AML		0				77						c.(2173-2175)Ctc>Ttc		lysine (K)-specific demethylase 5A							90.0	79.0	82.0					12																	432350		1849	4088	5937	SO:0001583	missense	5927	0	0					g.chr12:432350G>A		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.2173C>T	chr12.hg19:g.432350G>A	ENSP00000382688:p.Leu725Phe	0					KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	p.L725F	NM_001042603.1	NP_001036068.1	0	0	0	1.930325	P29375	KDM5A_HUMAN		16	2535	-			A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	1	1	hg19	c.2173C>T	CCDS41736.1	1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321988	0.60634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	5.39	5.39	0.77823	Zinc finger, C5HC2-type (1);	0.055609	0.64402	D	0.000001	D	0.96169	0.8751	M	0.83483	2.645	0.50467	D	0.999873	B;B;B	0.28178	0.202;0.118;0.017	B;B;B	0.39771	0.307;0.309;0.046	D	0.95095	0.8225	10	0.56958	D	0.05	-10.091	13.7971	0.63177	0.0737:0.0:0.9263:0.0	.	725;725;725	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	F	344;684;725;725;344	ENSP00000382688:L725F;ENSP00000372265:L725F;ENSP00000440622:L344F	ENSP00000261253:L344F	L	-	1	0	0	KDM5A	302611	302611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.011000	0.70760	2.676000	0.91093	0.563000	0.77884	CTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_005056			35	35		172	168	1		1	1		0	0	33	0		1	9.999250e-01	0	12	0	63	0	35	172
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582																																						ENST00000266383.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				26						c.(790-792)Cga>Tga		beta-1,4-N-acetyl-galactosaminyl transferase 3							127.0	99.0	109.0					12																	657400		2203	4300	6503	SO:0001587	stop_gained	283358	1	121412	32				g.chr12:657400C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	chr12.hg19:g.657400C>T	ENSP00000266383:p.Arg264*	0					B4GALNT3_ENST00000544638.1_3'UTR	p.R264*	NM_173593.3	NP_775864.3	0	0	0	1.930325	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)	9	803	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	0	1	hg19	c.790C>T	CCDS8504.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	2	B4GALNT3	527661	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.330108	1	0.170000	NM_173593			44	44		242	231	0		1	1		0	0	61	0		1	9.999323e-01	0	7	0	75	0	44	242
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	C	T	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0					ENST00000266383.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2233-2235)gtC>gtT		beta-1,4-N-acetyl-galactosaminyl transferase 3		C		4,4402	8.1+/-20.4	0,4,2199	48.0	46.0	47.0		2235	-11.0	0.0	12	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	B4GALNT3	NM_173593.3		0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538		745/999	665887	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	283358	17	121408	40				g.chr12:665887C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2235C>T	chr12.hg19:g.665887C>T		0						p.V745V	NM_173593.3	NP_775864.3	0	0	0	1.930325	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)	15	2248	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	1	1	hg19	c.2235C>T	CCDS8504.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_173593			44	44		151	146	1		1	1		0	0	35	0		1	9.999970e-01	0	10	0	61	0	44	151
WNK1	65125	broad.mit.edu	37	12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000315939.6	+	10	2882	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	747					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)			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)			GGGAATACAGCAGACAGCCCC	0.438																																					Colon(19;451 567 6672 12618 28860)	ENST00000315939.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999831	0.990000	1.000000																										0				104						c.(2239-2241)Cag>Tag		WNK lysine deficient protein kinase 1							110.0	98.0	102.0					12																	987393		2203	4300	6503	SO:0001587	stop_gained	65125	0	0					g.chr12:987393C>T	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.2239C>T	chr12.hg19:g.987393C>T	ENSP00000313059:p.Gln747*	0					WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*	p.Q747*	NM_018979.3	NP_061852.3	0	0	0	1.930325	Q9H4A3	WNK1_HUMAN	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)	10	2882	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	0	1	hg19	c.2239C>T	CCDS8506.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.339887|12.339887	0.99658|0.99658	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000544965;ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.191642	.|0.37095	.|N	.|0.002245	T|.	0.66713|.	0.2817|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57353|.	-0.7826|.	3|.	.|0.16896	.|T	.|0.51	-1.1582|-1.1582	18.6582|18.6582	0.91462|0.91462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69;66|746;747;1160;166;1245;340;17	.|.	.|ENSP00000252477:Q166X	A|Q	+|+	2|1	0|0	0|0	WNK1|WNK1	857654|857654	857654|857654	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	4.571000|4.571000	0.60879|0.60879	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-19.998560	1	0.170000	NM_018979			56	53		385	374	0		1	1		0	0	98	0		1	9.999999e-01	0	3	0	158	0	56	385
ERC1	23085	broad.mit.edu	37	12	1346029	1346029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1346029C>T	ENST00000397203.2	+	13	2852	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	816					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)			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)			GGAGGCGCGACGACGGGAGGA	0.458																																						ENST00000397203.2	1.000000	0.580000	1	7.600000e-01	0.980000	0.911159	0.980000	1.000000																										0				38						c.(2446-2448)Cga>Tga		ELKS/RAB6-interacting/CAST family member 1							128.0	112.0	117.0					12																	1346029		2203	4300	6503	SO:0001587	stop_gained	23085	0	0					g.chr12:1346029C>T	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.2446C>T	chr12.hg19:g.1346029C>T	ENSP00000380386:p.Arg816*	0					ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*	p.R816*			0	0	0	1.930325	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)	13	2852	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	0	1	hg19	c.2446C>T	CCDS8508.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.457092	0.97581	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.81	2.76	0.32466	5.81	2.76	0.32466	.	0.116075	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.4586	15.2903	0.73862	0.4961:0.5039:0.0:0.0	.	.	.	.	X	792;816;792;792;520;788;792;520;816;816;816;792;568;456	.	ENSP00000299183:R520X	R	+	1	2	2	ERC1	1216290	1216290	0.999000	0.42202	0.441000	0.26858	0.443000	0.32047	2.599000	0.46231	0.718000	0.32166	0.650000	0.86243	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-19.914400	1	0.170000	NM_015064			15	14		156	153	0		1	1		0	0	50	0		9.998752e-01	9.893556e-01	0	2	0	79	0	15	156
WNT5B	81029	broad.mit.edu	37	12	1741887	1741887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000397196.2	+	3	376	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	48					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567																																						ENST00000397196.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(142-144)tgC>tgT		wingless-type MMTV integration site family, member 5B							100.0	104.0	102.0					12																	1741887		2203	4300	6503	SO:0001819	synonymous_variant	81029	0	0					g.chr12:1741887C>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.144C>T	chr12.hg19:g.1741887C>T		0					WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000542408.1_Silent_p.C48C	p.C48C	NM_032642.2	NP_116031.1	0	0	0	1.930325	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)	3	376	+	Ovarian(42;0.107)		A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	1	1	hg19	c.144C>T	CCDS8510.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000				117	115		720	711	1		1	0		0	0	155	0		1	5.178974e-01	0	1	0	11	0	117	720
CACNA2D4	93589	broad.mit.edu	37	12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	490	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5	1.000000	0.910000	1	9.900000e-01	0.990000	0.995184	0.990000	1.000000																										0				39						c.(1468-1470)Gcc>Acc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							80.0	85.0	83.0					12																	1992050		2134	4259	6393	SO:0001583	missense	93589	0	0					g.chr12:1992050C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1468G>A	chr12.hg19:g.1992050C>T	ENSP00000372169:p.Ala490Thr	0					CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T	p.A490T	NM_172364.4	NP_758952.4	0	0	0	1.930325	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	13	1830	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	0	1	hg19	c.1468G>A	CCDS44785.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.211218	0.95069	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08102	3.13	5.29	5.29	0.74685	5.29	5.29	0.74685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.941;1.0	T	0.00948	-1.1504	10	0.59425	D	0.04	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	490;490	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	426;490;490	ENSP00000372169:A490T	ENSP00000280663:A490T	A	-	1	0	0	CACNA2D4	1862311	1862311	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-11.211860	1	0.170000				19	19		121	119	1		1			0	0	10	0		9.999933e-01	0	0	0	0	0	0	19	121
DCP1B	196513	broad.mit.edu	37	12	2055426	2055426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	600					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)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393																																						ENST00000280665.6	1.000000	0.760000	1	9.400000e-01	0.990000	0.975692	0.990000	1.000000																										0				24						c.(1798-1800)atC>atT		decapping mRNA 1B							87.0	84.0	85.0					12																	2055426		2203	4300	6503	SO:0001819	synonymous_variant	196513	0	0					g.chr12:2055426G>A	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.1800C>T	chr12.hg19:g.2055426G>A		0					DCP1B_ENST00000397173.4_Silent_p.I498I	p.I600I	NM_152640.3	NP_689853.3	0	0	0	1.930325	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)	9	1879	-			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	1	1	hg19	c.1800C>T	CCDS31727.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_152640			23	23		199	197	1		1	1		0	0	31	0		9.999995e-01	8.840806e-01	0	3	0	32	0	23	199
DCP1B	196513	broad.mit.edu	37	12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A	rs202169607		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000280665.6	-	7	1109	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	344			R -> H (in dbSNP:rs715146).		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)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19623	0.0		0.001	False		,,,				2504	0.0					ENST00000280665.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1030-1032)Cgt>Tgt		decapping mRNA 1B							83.0	92.0	89.0					12																	2062076		2203	4300	6503	SO:0001583	missense	196513	7	121412	40				g.chr12:2062076G>A	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.1030C>T	chr12.hg19:g.2062076G>A	ENSP00000280665:p.Arg344Cys	0					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C	p.R344C	NM_152640.3	NP_689853.3	0	0	0	1.930325	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)	7	1109	-			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	1	1	hg19	c.1030C>T	CCDS31727.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.968	0.972216	0.18736	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18960	2.19;2.19;2.18	4.74	0.415	0.16411	4.74	0.415	0.16411	.	0.779686	0.12137	N	0.496205	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30238	-0.9985	10	0.49607	T	0.09	0.9252	8.1297	0.31020	0.4662:0.0:0.5338:0.0	.	242;344	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	C	344;242;218	ENSP00000280665:R344C;ENSP00000380358:R242C;ENSP00000444374:R218C	ENSP00000280665:R344C	R	-	1	0	0	DCP1B	1932337	1932337	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	0.617000	0.24359	-0.104000	0.12154	-0.137000	0.14449	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-3.493171	1	0.170000	NM_152640			87	86		311	305	1		1	1		0	0	95	0		1	9.995171e-01	0	7	0	36	0	87	311
DCP1B	196513	broad.mit.edu	37	12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000280665.6	-	7	816	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	246					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)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527																																						ENST00000280665.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(736-738)cCt>cAt		decapping mRNA 1B							43.0	48.0	46.0					12																	2062369		2203	4300	6503	SO:0001583	missense	196513	0	0					g.chr12:2062369G>T	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.737C>A	chr12.hg19:g.2062369G>T	ENSP00000280665:p.Pro246His	0					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H	p.P246H	NM_152640.3	NP_689853.3	0	0	0	1.930325	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)	7	816	-			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	1	1	hg19	c.737C>A	CCDS31727.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329106	0.24167	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23147	2.01;1.99;1.92	4.93	-0.695	0.11291	4.93	-0.695	0.11291	.	0.896531	0.09811	N	0.752777	T	0.13072	0.0317	N	0.21448	0.665	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.16722	0.005;0.016	T	0.31696	-0.9934	10	0.31617	T	0.26	-0.0327	1.402	0.02273	0.2313:0.1138:0.3995:0.2554	.	144;246	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	246;144;120	ENSP00000280665:P246H;ENSP00000380358:P144H;ENSP00000444374:P120H	ENSP00000280665:P246H	P	-	2	0	0	DCP1B	1932630	1932630	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.047000	0.14056	0.012000	0.14892	0.650000	0.86243	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	0		17	2	2	0		0	1	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_152640			55	55		230	226	1		1	1		0	0	57	0		9.999996e-01	9.998334e-01	0	14	0	43	0	55	230
DCP1B	196513	broad.mit.edu	37	12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000280665.6	-	6	608	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	177					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)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353																																						ENST00000280665.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				24						c.(529-531)Acc>Gcc		decapping mRNA 1B							153.0	150.0	151.0					12																	2064720		2203	4300	6503	SO:0001583	missense	196513	0	0					g.chr12:2064720T>C	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.529A>G	chr12.hg19:g.2064720T>C	ENSP00000280665:p.Thr177Ala	0					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A	p.T177A	NM_152640.3	NP_689853.3	0	0	0	1.930325	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)	6	608	-			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	1	1	hg19	c.529A>G	CCDS31727.1	1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532341	0.64972	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18502	2.22;2.21;2.21	5.73	3.21	0.36854	5.73	3.21	0.36854	.	0.236512	0.43919	D	0.000515	T	0.12135	0.0295	L	0.57536	1.79	0.32763	N	0.504865	P;B	0.38788	0.647;0.278	B;B	0.30179	0.091;0.112	T	0.18650	-1.0330	10	0.42905	T	0.14	-21.607	3.3778	0.07243	0.1345:0.0739:0.1399:0.6516	.	75;177	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	A	177;75;51	ENSP00000280665:T177A;ENSP00000380358:T75A;ENSP00000444374:T51A	ENSP00000280665:T177A	T	-	1	0	0	DCP1B	1934981	1934981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.953000	0.29162	0.978000	0.38470	0.533000	0.62120	ACC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_152640			82	80		515	508	1		1	1		0	0	99	0		1	9.992593e-01	0	13	0	55	0	82	515
CACNA1C	775	broad.mit.edu	37	12	2717701	2717701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000347598.4	+	28	3441	c.3441C>A	c.(3439-3441)tcC>tcA	p.S1147S	CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399655.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1147	Dihydropyridine binding. {ECO:0000250}.				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)			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)	CCATCGACTCCCACACGGAAG	0.552																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				132						c.(3439-3441)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						68.0	63.0	64.0					12																	2717701		2203	4300	6503	SO:0001819	synonymous_variant	775	0	0					g.chr12:2717701C>A	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.3441C>A	chr12.hg19:g.2717701C>A		0					CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399655.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C-AS3_ENST00000543559.1_RNA	p.S1147S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	28	3441	+			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	1	1	hg19	c.3441C>A	CCDS44788.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_000719			25	25		76	73	1		1	0		0	0	20	0		9.999999e-01	8.873707e-01	0	0	0	14	0	25	76
CACNA1C	775	broad.mit.edu	37	12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A	rs373930708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000347598.4	+	30	3808	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1270					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)			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)	GTTCAAAATCGCCATGAACAT	0.567																																						ENST00000347598.4	1.000000	0.770000	1	9.600000e-01	0.990000	0.977937	0.990000	1.000000																										0				132						c.(3808-3810)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4371	2.1+/-5.4	0,1,2185	103.0	100.0	101.0		3748,3808,3748,3748,3748,3808,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3739,3748,3748,3748,3748,3808	4.3	1.0	12		101	0,8592		0,0,4296	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6481	AA,AG,GG		0.0,0.0229,0.0077	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,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1250/2139,1270/2187,1250/2180,1250/2174,1250/2167,1270/2159,1250/2158,1250/2158,1250/2158,1250/2156,1250/2147,1250/2147,1250/2145,1250/2139,1250/2139,1250/2139,1250/2139,1247/2136,1250/2128,1250/2139,1250/2174,1250/2199,1270/2222	2721099	1,12963	2186	4296	6482	SO:0001583	missense	775	2	121368	35				g.chr12:2721099G>A	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.3808G>A	chr12.hg19:g.2721099G>A	ENSP00000266376:p.Ala1270Thr	0					CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T	p.A1270T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	30	3808	+			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	1	1	hg19	c.3808G>A	CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753981	0.89843	2.29E-4	0.0	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	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.2	4.29	0.51040	5.2	4.29	0.51040	.	0.171847	0.51477	D	0.000090	D	0.96781	0.8949	L	0.28556	0.865	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.922;1.0;0.999;1.0;1.0;0.996;0.88;0.999;1.0;0.607;0.999;1.0;0.999;1.0;0.901;1.0;0.585;1.0;1.0;1.0;1.0;0.998;1.0	D;D;B;D;D;D;D;D;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;P;D	0.87578	0.996;0.994;0.186;0.996;0.994;0.994;0.998;0.96;0.212;0.994;0.998;0.095;0.995;0.99;0.992;0.992;0.37;0.998;0.065;0.998;0.998;0.998;0.998;0.884;0.991	D	0.96515	0.9381	10	0.56958	D	0.05	.	13.4928	0.61407	0.0757:0.0:0.9243:0.0	.	1250;1247;1270;1250;1250;1250;1250;1250;1250;1270;1250;1221;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1275;1250;1250;1250;1250;1250;1250;1250;1250;1250;1270;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1091	ENSP00000336982:A1275T;ENSP00000382563:A1250T;ENSP00000437936:A1250T;ENSP00000382552:A1250T;ENSP00000382547:A1250T;ENSP00000382506:A1250T;ENSP00000382530:A1250T;ENSP00000382546:A1250T;ENSP00000382500:A1250T;ENSP00000382549:A1250T;ENSP00000266376:A1270T;ENSP00000382515:A1270T;ENSP00000382510:A1250T;ENSP00000341092:A1250T;ENSP00000382537:A1250T;ENSP00000329877:A1250T;ENSP00000382557:A1250T;ENSP00000385724:A1250T;ENSP00000382512:A1250T;ENSP00000382542:A1250T;ENSP00000382526:A1250T;ENSP00000385896:A1250T;ENSP00000382504:A1250T	ENSP00000323129:A1091T	A	+	1	0	0	CACNA1C	2591360	2591360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.570000	0.86706	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.318872	1	0.170000	NM_000719			22	21		186	182	1		1	0		0	0	46	0		9.999988e-01	7.588767e-01	0	0	0	25	0	22	186
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000347598.4	+	34	4197	c.4197G>A	c.(4195-4197)tgG>tgA	p.W1399*	CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					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)			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)	CGCTGCTGTGGACCTTCATCA	0.632																																						ENST00000347598.4	1.000000	0.650000	1	8.200000e-01	0.990000	0.935699	0.990000	1.000000																										0				132						c.(4195-4197)tgG>tgA		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						44.0	53.0	50.0					12																	2760913		2195	4295	6490	SO:0001587	stop_gained	775	0	0					g.chr12:2760913G>A	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.4197G>A	chr12.hg19:g.2760913G>A	ENSP00000266376:p.Trp1399*	0					CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*	p.W1399*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	34	4197	+			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	Nonsense_Mutation	SNP	ENST00000347598.4	0	1	hg19	c.4197G>A	CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.355789	0.99147	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.17	4.27	0.50696	5.17	4.27	0.50696	.	0.125129	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	.	.	.	X	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	.	ENSP00000323129:W1181X	W	+	3	0	0	CACNA1C	2631174	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_000719			20	20		200	195	1		1	1		0	0	28	0		9.999954e-01	8.976220e-01	0	10	0	32	0	20	200
CACNA1C	775	broad.mit.edu	37	12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000347598.4	+	37	4477	c.4477A>C	c.(4477-4479)Aca>Cca	p.T1493P	CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1493	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				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)			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)	GGAGGGTGAAACACCCTGTGG	0.587																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998582	0.990000	1.000000																										0				132						c.(4477-4479)Aca>Cca		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						54.0	59.0	57.0					12																	2774091		2203	4300	6503	SO:0001583	missense	775	0	0					g.chr12:2774091A>C	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.4477A>C	chr12.hg19:g.2774091A>C	ENSP00000266376:p.Thr1493Pro	0					CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P	p.T1493P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	37	4477	+			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	1	1	hg19	c.4477A>C	CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	A	5.093	0.202823	0.09652	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;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	0.96365	-3.92;-3.92;-3.92;-3.88;-3.91;-3.93;-3.83;-3.88;-3.91;-3.81;-3.84;-3.92;-3.94;-3.83;-3.76;-3.99;-3.93;-3.91;-3.94;-3.85;-3.94;-3.99	4.07	-1.38	0.09027	4.07	-1.38	0.09027	Ion transport (1);	0.447550	0.25619	N	0.029437	D	0.88153	0.6360	N	0.04959	-0.14	0.09310	N	1	B;P;P;B;B;B;P;B;B;B;B;P;B;B;P;B;P;B;B;B;B;B;B;B;B	0.45827	0.001;0.755;0.49;0.009;0.351;0.351;0.49;0.228;0.016;0.129;0.228;0.683;0.009;0.429;0.492;0.003;0.867;0.0;0.351;0.0;0.256;0.351;0.351;0.003;0.256	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44518	0.005;0.452;0.315;0.032;0.334;0.264;0.315;0.322;0.141;0.15;0.264;0.409;0.022;0.322;0.357;0.026;0.439;0.003;0.334;0.003;0.099;0.264;0.264;0.005;0.176	D	0.84372	0.0544	10	0.40728	T	0.16	.	5.47	0.16664	0.3668:0.3625:0.2706:0.0	.	136;1467;1442;1493;1445;1445;1445;1462;1473;1445;1465;1445;1405;1493;1445;1445;1445;1434;1432;1434;1434;1445;1445;1445;1445	B7Z7Z5;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;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1470;1445;1445;1473;1445;1445;1445;1434;1445;1493;1465;1445;1467;1462;1445;1432;1445;1445;1445;1445;1445;1434;1275	ENSP00000336982:T1470P;ENSP00000382563:T1445P;ENSP00000382552:T1445P;ENSP00000382547:T1473P;ENSP00000382506:T1445P;ENSP00000382530:T1445P;ENSP00000382546:T1445P;ENSP00000382500:T1434P;ENSP00000382549:T1445P;ENSP00000266376:T1493P;ENSP00000382515:T1465P;ENSP00000382510:T1445P;ENSP00000341092:T1467P;ENSP00000382537:T1462P;ENSP00000329877:T1445P;ENSP00000382557:T1432P;ENSP00000385724:T1445P;ENSP00000382512:T1445P;ENSP00000382542:T1445P;ENSP00000382526:T1445P;ENSP00000385896:T1445P;ENSP00000382504:T1434P	ENSP00000323129:T1275P	T	+	1	0	0	CACNA1C	2644352	2644352	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.426000	0.21363	-0.335000	0.08451	-1.251000	0.01509	ACA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_000719			24	24		143	140	1		1	1		0	0	28	0		9.999998e-01	9.890364e-01	0	17	0	29	0	24	143
CACNA1C	775	broad.mit.edu	37	12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000347598.4	+	39	4753	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1585					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)			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)	GTGCCCTCACCGCGTGGCTTG	0.537																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998564	0.990000	1.000000																										0				132						c.(4753-4755)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						36.0	38.0	37.0					12																	2775934		1946	4150	6096	SO:0001583	missense	775	0	0					g.chr12:2775934C>T	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.4753C>T	chr12.hg19:g.2775934C>T	ENSP00000266376:p.Arg1585Cys	0					CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C	p.R1585C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	39	4753	+			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	0	1	hg19	c.4753C>T	CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774214	0.69992	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;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	0.97138	-4.19;-4.18;-4.19;-4.2;-4.18;-4.22;-4.11;-4.15;-4.19;-4.13;-4.12;-4.19;-4.25;-4.12;-4.02;-4.26;-4.21;-4.18;-4.2;-4.12;-4.19;-4.26	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.92317	3.295	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	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;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;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.99;0.999;0.993;0.998;0.995;0.999;0.999;0.998;0.998;0.999;0.999;0.999;0.998	D	0.99651	1.0991	10	0.87932	D	0	.	17.492	0.87707	0.0:1.0:0.0:0.0	.	228;1559;1534;1585;1537;1537;1537;1554;1565;1537;1557;1537;1497;1585;1537;1537;1537;1526;1524;1526;1526;1537;1537;1537;1537	B7Z7Z5;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;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1562;1537;1537;1565;1537;1537;1537;1526;1537;1585;1557;1537;1559;1554;1537;1524;1537;1537;1537;1537;1537;1526;1367	ENSP00000336982:R1562C;ENSP00000382563:R1537C;ENSP00000382552:R1537C;ENSP00000382547:R1565C;ENSP00000382506:R1537C;ENSP00000382530:R1537C;ENSP00000382546:R1537C;ENSP00000382500:R1526C;ENSP00000382549:R1537C;ENSP00000266376:R1585C;ENSP00000382515:R1557C;ENSP00000382510:R1537C;ENSP00000341092:R1559C;ENSP00000382537:R1554C;ENSP00000329877:R1537C;ENSP00000382557:R1524C;ENSP00000385724:R1537C;ENSP00000382512:R1537C;ENSP00000382542:R1537C;ENSP00000382526:R1537C;ENSP00000385896:R1537C;ENSP00000382504:R1526C	ENSP00000323129:R1367C	R	+	1	0	0	CACNA1C	2646195	2646195	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.161000	0.42358	2.429000	0.82318	0.655000	0.94253	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_000719			14	14		53	51	1		1	1		0	0	10	0		9.998307e-01	9.021881e-01	0	8	0	10	0	14	53
CACNA1C	775	broad.mit.edu	37	12	2788897	2788897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000347598.4	+	44	5523	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399655.1_Silent_p.G1793G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399634.1_Silent_p.G1793G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1841					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)			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)	CTGTGGAGGGCCACGGGCCCC	0.692																																						ENST00000347598.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.988943	0.990000	1.000000																										0				132						c.(5521-5523)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						34.0	39.0	37.0					12																	2788897		2023	4179	6202	SO:0001819	synonymous_variant	775	0	0					g.chr12:2788897C>T	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.5523C>T	chr12.hg19:g.2788897C>T		0					CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399655.1_Silent_p.G1793G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000406454.3_Silent_p.G1793G	p.G1841G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	44	5523	+			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	0	1	hg19	c.5523C>T	CCDS44788.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.855100	1	0.170000	NM_000719			11	10		61	58	1		1	1		0	0	14	0		9.983093e-01	9.337698e-01	0	14	0	15	0	11	61
CACNA1C	775	broad.mit.edu	37	12	2795331	2795331	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000347598.4	+	47	5824		c.e47-1		CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						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)			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)	TGGCTTTGCAGGTCGAAGGGC	0.577																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.e47-1		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						72.0	76.0	75.0					12																	2795331		2018	4174	6192	SO:0001630	splice_region_variant	775	0	0					g.chr12:2795331G>T	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.5825-1G>T	chr12.hg19:g.2795331G>T		0					CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site		NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	47	5824	+			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	Splice_Site	SNP	ENST00000347598.4	1	1	hg19		CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861970	0.71949	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.35	4.35	0.52113	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CACNA1C	2665592	2665592	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.147000	0.94646	2.416000	0.81992	0.460000	0.39030	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-3.244979	1	0.170000	NM_000719	Intron		65	64		325	323	0		1	1		0	0	92	0		1	2.870385e-02	0	2	0	0	0	65	325
CACNA1C	775	broad.mit.edu	37	12	2795339	2795339	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000347598.4	+	47	5832	c.5832G>A	c.(5830-5832)agG>agA	p.R1944R	CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399655.1_Silent_p.R1896R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399634.1_Silent_p.R1967R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1979					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)			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)	CAGGTCGAAGGGCCTCCTTCC	0.572																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				132						c.(5830-5832)agG>agA		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						84.0	88.0	86.0					12																	2795339		2010	4178	6188	SO:0001819	synonymous_variant	775	1	120914	32				g.chr12:2795339G>A	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.5832G>A	chr12.hg19:g.2795339G>A		0					CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399655.1_Silent_p.R1896R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000406454.3_Silent_p.R1967R	p.R1944R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	47	5832	+			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	1	1	hg19	c.5832G>A	CCDS44788.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_000719			65	64		360	358	1		1	1		0	0	105	0		1	9.528912e-01	0	2	0	28	0	65	360
CACNA1C	775	broad.mit.edu	37	12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000347598.4	+	48	6209	c.6209C>A	c.(6208-6210)gCt>gAt	p.A2070D	CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2105					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)			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)	CCCAGCCAGGCTGGGGCCCCA	0.721																																						ENST00000347598.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999626	0.990000	1.000000																										0				132						c.(6208-6210)gCt>gAt		calcium channel, voltage-dependent, L type, alpha 1C subunit	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)						9.0	12.0	11.0					12																	2797893		1931	4095	6026	SO:0001583	missense	775	0	0					g.chr12:2797893C>A	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.6209C>A	chr12.hg19:g.2797893C>A	ENSP00000266376:p.Ala2070Asp	0					CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D	p.A2070D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	0	0	1.930325	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	48	6209	+			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	1	1	hg19	c.6209C>A	CCDS44788.1	1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615424	0.28801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.164115	0.39475	N	0.001360	T	0.44008	0.1273	N	0.25647	0.755	0.25660	N	0.986018	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.40834	0.286;0.73;0.145;0.286;0.374;0.374;0.178;0.21;0.026;0.003;0.321;0.145;0.302;0.404;0.09;0.078;0.302;0.127;0.515;0.127;0.178;0.127;0.321;0.145;0.145	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.042;0.299;0.036;0.066;0.156;0.156;0.107;0.156;0.062;0.012;0.156;0.023;0.109;0.156;0.016;0.075;0.109;0.139;0.156;0.139;0.073;0.139;0.156;0.079;0.036	T	0.38908	-0.9639	10	0.35671	T	0.21	.	18.7594	0.91845	0.0:1.0:0.0:0.0	.	713;2063;2019;2105;2057;2041;2022;2039;2050;2022;2042;2022;2053;2070;2022;2057;2093;2030;2028;2030;2011;2041;2041;2022;2022	B7Z7Z5;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;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2047;2022;2022;2050;2022;2041;2041;2030;2022;2070;2042;2022;2063;2039;2057;2028;2041;2022;2093;2057;2093;2030;1923	ENSP00000336982:A2047D;ENSP00000382563:A2022D;ENSP00000382552:A2022D;ENSP00000382547:A2050D;ENSP00000382506:A2022D;ENSP00000382530:A2041D;ENSP00000382546:A2041D;ENSP00000382500:A2030D;ENSP00000382549:A2022D;ENSP00000266376:A2070D;ENSP00000382515:A2042D;ENSP00000382510:A2022D;ENSP00000341092:A2063D;ENSP00000382537:A2039D;ENSP00000329877:A2057D;ENSP00000382557:A2028D;ENSP00000385724:A2041D;ENSP00000382512:A2022D;ENSP00000382542:A2093D;ENSP00000382526:A2057D;ENSP00000385896:A2093D;ENSP00000382504:A2030D	ENSP00000323129:A1923D	A	+	2	0	0	CACNA1C	2668154	2668154	0.001000	0.12720	0.955000	0.39395	0.197000	0.23852	0.340000	0.19892	2.428000	0.82296	0.462000	0.41574	GCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_000719			21	21		92	91	0		1	1		0	0	22	0		9.999988e-01	4.666029e-01	0	2	0	6	0	21	92
FKBP4	2288	broad.mit.edu	37	12	2907877	2907877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	133	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CACAGGTGGAGTTGTTTGAGT	0.483																																						ENST00000001008.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(397-399)gaG>gaA		FK506 binding protein 4, 59kDa							162.0	150.0	154.0					12																	2907877		2203	4300	6503	SO:0001819	synonymous_variant	2288	0	0					g.chr12:2907877G>A	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.399G>A	chr12.hg19:g.2907877G>A		0					RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	p.E133E	NM_002014.3	NP_002005.1	0	0	0	1.930325	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)	4	586	+			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	1	1	hg19	c.399G>A	CCDS8512.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1	1	0	1		2	2	2	0		0	0	141		141	139	1	2.060000	-20.000000	1	0.170000				105	101		516	509	0		1	1		0	0	141	0		1	1	0	147	0	261	0	105	516
FOXM1	2305	broad.mit.edu	37	12	2973867	2973867	+	Missense_Mutation	SNP	C	C	T	rs376160082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2973867C>T	ENST00000359843.3	-	7	1140	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K|FOXM1_ENST00000342628.2_Missense_Mutation_p.E358K|FOXM1_ENST00000537018.1_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	358					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)			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)			AGGGGGAGTTCGGTTTTGATG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.001					ENST00000359843.3	0.610000	0.270000	5.200000e-01	3.400000e-01	0.420000	0.436244	0.420000	0.420000																										0				24						c.(1072-1074)Gaa>Aaa		forkhead box M1		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	165.0	144.0	151.0		1072,1072,1027	4.8	1.0	12		151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/764,358/802,343/749	2973867	1,13005	2203	4300	6503	SO:0001583	missense	2305	2	121412	34				g.chr12:2973867C>T	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.1072G>A	chr12.hg19:g.2973867C>T	ENSP00000352901:p.Glu358Lys	0					FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K|FOXM1_ENST00000342628.2_Missense_Mutation_p.E358K	p.E358K	NM_021953.3	NP_068772.2	0	0	0	1.930325	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)	7	1140	-			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	1	1	hg19	c.1072G>A	CCDS8515.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936750|2.936750	0.52972|0.52972	0.0|0.0	1.16E-4|1.16E-4	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.92805|.	-2.97;-3.11;-3.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.604087|.	0.16138|.	N|.	0.227843|.	T|T	0.37293|0.37293	0.0998|0.0998	N|N	0.14661|0.14661	0.345|0.345	0.30901|0.30901	N|N	0.729328|0.729328	P;D;P;D;D|.	0.69078|.	0.898;0.971;0.939;0.971;0.997|.	B;B;B;B;P|.	0.59487|.	0.234;0.298;0.412;0.298;0.858|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.25751|.	T|.	0.34|.	.|.	14.7477|14.7477	0.69501|0.69501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	342;358;343;358;358|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	K|Q	358;343;358|83	ENSP00000342307:E358K;ENSP00000354492:E343K;ENSP00000352901:E358K|.	ENSP00000342307:E358K|.	E|R	-|-	1|2	0|0	0|0	FOXM1|FOXM1	2844128|2844128	2844128|2844128	0.323000|0.323000	0.24643|0.24643	0.984000|0.984000	0.44739|0.44739	0.242000|0.242000	0.25591|0.25591	1.607000|1.607000	0.36836|0.36836	2.500000|2.500000	0.84329|0.84329	0.313000|0.313000	0.20887|0.20887	GAA|CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	0	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-3.469824	1	0.170000	NM_021953			22	22		569	561	0		1	1		0	0	140	0		9.999986e-01	4.318605e-01	0	7	0	31	0	22	569
TEAD4	7004	broad.mit.edu	37	12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627																																						ENST00000359864.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(247-249)cGc>cAc		TEA domain family member 4							74.0	72.0	73.0					12																	3120191		2203	4300	6503	SO:0001583	missense	7004	1	121412	29				g.chr12:3120191G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.248G>A	chr12.hg19:g.3120191G>A	ENSP00000352926:p.Arg83His	0					TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H|TEAD4_ENST00000397122.2_5'UTR	p.R83H	NM_003213.3	NP_003204	0	0	0	1.930325	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)	4	438	+	Ovarian(42;0.211)		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	1	1	hg19	c.248G>A	CCDS31729.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860372	0.91433	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.34472	1.36;1.36;1.36	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-22.6944	15.6893	0.77436	0.0:0.0:1.0:0.0	.	83	Q15561	TEAD4_HUMAN	H	83	ENSP00000351184:R83H;ENSP00000352926:R83H;ENSP00000444528:R83H	ENSP00000351184:R83H	R	+	2	0	0	TEAD4	2990452	2990452	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	7.666000	0.83877	2.556000	0.86216	0.561000	0.74099	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_003213			95	95		365	361	1		1	1		0	0	81	0		1	9.999992e-01	0	24	0	56	0	95	365
TEAD4	7004	broad.mit.edu	37	12	3121335	3121335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000397122.2	+	3	189		c.e3-1		TEAD4_ENST00000359864.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4						gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607																																						ENST00000397122.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999069	0.990000	1.000000																										0				10						c.e3-1		TEA domain family member 4							63.0	55.0	57.0					12																	3121335		2203	4300	6503	SO:0001630	splice_region_variant	7004	0	0					g.chr12:3121335G>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.-96-1G>T	chr12.hg19:g.3121335G>T		0					TEAD4_ENST00000359864.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site		NM_201443.2	NP_958851.1	0	0	0	1.930325	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)	3	189	+	Ovarian(42;0.211)		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Splice_Site	SNP	ENST00000397122.2	1	1	hg19		CCDS41737.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655937	0.47467	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035;ENST00000544666	.	.	.	4.98	4.98	0.66077	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TEAD4	2991596	2991596	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.012000	0.93624	2.468000	0.83385	0.655000	0.94253	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_003213	Intron		24	24		135	129	1		1			0	0	46	0		9.999997e-01	0	0	0	0	0	0	24	135
TSPAN9	10867	broad.mit.edu	37	12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T	rs372946603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				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)			GTCATGGTGACGGGCTTCCTC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.0					ENST00000011898.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(199-201)aCg>aTg		tetraspanin 9							127.0	114.0	119.0					12																	3387723		2203	4300	6503	SO:0001583	missense	10867	6	121412	40				g.chr12:3387723C>T	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.200C>T	chr12.hg19:g.3387723C>T	ENSP00000011898:p.Thr67Met	0					TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	p.T67M	NM_006675.4	NP_006666.1	0	0	0	1.930325	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)	4	361	+			D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	1	1	hg19	c.200C>T	CCDS8520.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805945	0.70682	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79653	-1.29;-1.29;-1.29	4.98	4.98	0.66077	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	10	0.41790	T	0.15	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	67	O75954	TSN9_HUMAN	M	67	ENSP00000444799:T67M;ENSP00000011898:T67M;ENSP00000384488:T67M	ENSP00000011898:T67M	T	+	2	0	0	TSPAN9	3257984	3257984	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.985000	0.63845	2.314000	0.78098	0.561000	0.74099	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_006675			88	88		397	393	1		1	1		0	0	89	0		1	1	0	28	0	148	0	88	397
CRACR2A	84766	broad.mit.edu	37	12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000252322.1	-	5	773	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G102D|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		102	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTCAGATAGCCATTGCCATC	0.507																																						ENST00000252322.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				24						c.(304-306)gGc>gAc									130.0	104.0	112.0					12																	3789439		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr12:3789439C>T																												ENST00000252322.1:c.305G>A	chr12.hg19:g.3789439C>T	ENSP00000252322:p.Gly102Asp	0					EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G102D|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D	p.G102D	NM_032680.3	NP_116069.1	0	0	0	1.930325	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)	5	773	-			B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	1	1	hg19	c.305G>A	CCDS8522.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779219	0.90195	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	D;D;D	0.94232	-3.38;-1.77;-3.38	4.69	4.69	0.59074	4.69	4.69	0.59074	EF-hand-like domain (1);	0.104583	0.64402	D	0.000004	D	0.97980	0.9335	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.99100	1.0843	10	0.87932	D	0	-32.3133	15.1607	0.72782	0.0:1.0:0.0:0.0	.	102;102;102	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	D	102	ENSP00000409382:G102D;ENSP00000412496:G102D;ENSP00000252322:G102D	ENSP00000252322:G102D	G	-	2	0	0	EFCAB4B	3659700	3659700	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.149000	0.77396	2.460000	0.83146	0.561000	0.74099	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000				45	43		202	196	1		1	0		0	0	72	0		1	3.782809e-01	0	0	0	7	0	45	202
PARP11	57097	broad.mit.edu	37	12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000447133.3_Missense_Mutation_p.L75I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000476985.1_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	149	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)			TTCCCAAAGAGATTAGCAACT	0.353																																						ENST00000228820.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(466-468)Ctc>Atc		poly (ADP-ribose) polymerase family, member 11							85.0	91.0	89.0					12																	3931121		2203	4300	6503	SO:0001583	missense	57097	0	0					g.chr12:3931121G>T	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.466C>A	chr12.hg19:g.3931121G>T	ENSP00000228820:p.Leu156Ile	0					PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I	p.L156I	NM_020367.4	NP_065100.2	0	0	0	1.930325	Q9NR21	PAR11_HUMAN	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)	6	610	-			B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	1	1	hg19	c.466C>A	CCDS8523.2	1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027327	0.54683	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.29	5.29	0.74685	5.29	5.29	0.74685	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.068839	0.64402	D	0.000013	T	0.19604	0.0471	L	0.47716	1.5	0.43330	D	0.995366	P;P;P	0.44946	0.846;0.557;0.611	B;B;B	0.43658	0.426;0.295;0.419	T	0.01805	-1.1270	10	0.18710	T	0.47	.	16.457	0.84021	0.0:0.0:1.0:0.0	.	75;156;149	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	149;75;156;75	ENSP00000380284:L149I;ENSP00000397058:L75I;ENSP00000228820:L156I;ENSP00000405385:L75I	ENSP00000228820:L156I	L	-	1	0	0	PARP11	3801382	3801382	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.917000	0.63369	2.740000	0.93945	0.637000	0.83480	CTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000				81	80		314	310	1		1	1		0	0	77	0		1	9.819335e-01	0	6	0	21	0	81	314
PARP11	57097	broad.mit.edu	37	12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.D24N	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	24	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)			CACTGGGTATCTGACGTGTCC	0.423																																						ENST00000228820.4	0.640000	0.200000	5.200000e-01	2.800000e-01	0.390000	0.408020	0.390000	0.380000																										0				17						c.(91-93)Gat>Aat		poly (ADP-ribose) polymerase family, member 11							180.0	161.0	168.0					12																	3939112		2203	4300	6503	SO:0001583	missense	57097	0	0					g.chr12:3939112C>T	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.91G>A	chr12.hg19:g.3939112C>T	ENSP00000228820:p.Asp31Asn	0					PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	p.D31N	NM_020367.4	NP_065100.2	0	0	0	1.930325	Q9NR21	PAR11_HUMAN	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)	2	235	-			B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	1	1	hg19	c.91G>A	CCDS8523.2	0	.	.	.	.	.	.	.	.	.	.	C	33	5.223274	0.95139	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	5.52	5.52	0.82312	WWE domain (1);	0.147781	0.64402	D	0.000013	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.07214	-1.0784	10	0.30078	T	0.28	.	16.978	0.86319	0.0:1.0:0.0:0.0	.	31;24	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	N	24;31	ENSP00000380284:D24N;ENSP00000228820:D31N	ENSP00000228820:D31N	D	-	1	0	0	PARP11	3809373	3809373	1.000000	0.71417	0.138000	0.22173	0.901000	0.52897	6.884000	0.75600	2.873000	0.98535	0.563000	0.77884	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.474021	1	0.170000				11	11		315	311	0		1	0		0	0	75	0		9.982918e-01	4.587935e-01	0	1	0	42	0	11	315
CCND2	894	broad.mit.edu	37	12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12p13	12p13	894	T	cyclin D2				L	L	IGL@		NHL,CLL		0				17						c.(226-228)Gtc>Atc		cyclin D2							73.0	74.0	74.0					12																	4385201		2203	4300	6503	SO:0001583	missense	894	0	0					g.chr12:4385201G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.226G>A	chr12.hg19:g.4385201G>A	ENSP00000261254:p.Val76Ile	0					RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	p.V76I	NM_001759.3	NP_001750.1	0	0	0	1.930325	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)	2	495	+			A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	1	1	hg19	c.226G>A	CCDS8524.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432156	0.83776	.	.	ENSG00000118971	ENST00000261254	T	0.18810	2.19	5.15	5.15	0.70609	5.15	5.15	0.70609	Cyclin, N-terminal (2);Cyclin-like (3);	0.182655	0.47852	D	0.000210	T	0.40791	0.1131	M	0.88906	2.99	0.80722	D	1	P	0.38767	0.646	B	0.43274	0.414	T	0.49570	-0.8926	10	0.56958	D	0.05	.	17.6686	0.88210	0.0:0.0:1.0:0.0	.	76	P30279	CCND2_HUMAN	I	76	ENSP00000261254:V76I	ENSP00000261254:V76I	V	+	1	0	0	CCND2	4255462	4255462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.423000	0.82170	0.555000	0.69702	GTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_001759			62	62		280	267	1		1	0		0	0	108	0		1	9.993601e-01	0	0	0	52	0	62	280
CCND2	894	broad.mit.edu	37	12	4385275	4385275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	100	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12p13	12p13	894	T	cyclin D2				L	L	IGL@		NHL,CLL		0				17						c.(298-300)ctC>ctT		cyclin D2							79.0	73.0	75.0					12																	4385275		2203	4300	6503	SO:0001819	synonymous_variant	894	1	121412	30				g.chr12:4385275C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.300C>T	chr12.hg19:g.4385275C>T		0					RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	p.L100L	NM_001759.3	NP_001750.1	0	0	0	1.930325	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)	2	569	+			A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	1	1	hg19	c.300C>T	CCDS8524.1	1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691942	0.48097	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.15	-4.5	0.03493	5.15	-4.5	0.03493	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	.	5.4715	0.16672	0.0872:0.2265:0.4763:0.2101	.	.	.	.	S	16	.	.	P	+	1	0	0	CCND2	4255536	4255536	0.923000	0.31300	0.990000	0.47175	0.991000	0.79684	-0.030000	0.12308	-0.393000	0.07739	0.555000	0.69702	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	1	0	0		2	2	2	0		0	0	102		102	101	1	2.060000	-3.283384	1	0.170000	NM_001759			65	64		284	273	1		1	1		0	0	102	0		1	9.999969e-01	0	19	0	65	0	65	284
C12orf5	57103	broad.mit.edu	37	12	4460469	4460469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	103					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999269	0.990000	1.000000																										0				10						c.(307-309)Ctg>Ttg		chromosome 12 open reading frame 5							106.0	99.0	101.0					12																	4460469		2203	4300	6503	SO:0001819	synonymous_variant	57103	0	0					g.chr12:4460469C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.307C>T	chr12.hg19:g.4460469C>T		0					C12orf5_ENST00000537251.1_3'UTR	p.L103L	NM_020375.2	NP_065108.1	0	0	0	1.930325	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)	5	374	+			B2R840	Silent	SNP	ENST00000179259.4	1	1	hg19	c.307C>T	CCDS8525.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_020375			39	38		265	264	0		1	1		0	0	65	0		1	9.999894e-01	0	32	0	88	0	39	265
FGF23	8074	broad.mit.edu	37	12	4479908	4479908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607																																						ENST00000237837.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				22						c.(355-357)acG>acA		fibroblast growth factor 23							103.0	100.0	101.0					12																	4479908		2203	4300	6503	SO:0001819	synonymous_variant	8074	0	0					g.chr12:4479908C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.357G>A	chr12.hg19:g.4479908C>T		0						p.T119T	NM_020638.2	NP_065689.1	0	0	0	1.930325	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)	3	502	-			Q4V758	Silent	SNP	ENST00000237837.1	1	1	hg19	c.357G>A	CCDS8526.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000				88	87		593	580	1		1			0	0	143	0		1	0	0	0	0	0	0	88	593
FGF23	8074	broad.mit.edu	37	12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592																																						ENST00000237837.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				22						c.(199-201)caG>caT		fibroblast growth factor 23							159.0	123.0	135.0					12																	4488548		2203	4300	6503	SO:0001583	missense	8074	0	0					g.chr12:4488548C>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.201G>T	chr12.hg19:g.4488548C>A	ENSP00000237837:p.Gln67His	0						p.Q67H	NM_020638.2	NP_065689.1	0	0	0	1.930325	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)	1	346	-			Q4V758	Missense_Mutation	SNP	ENST00000237837.1	1	1	hg19	c.201G>T	CCDS8526.1	1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238805	0.58995	.	.	ENSG00000118972	ENST00000237837	D	0.81579	-1.51	4.03	4.03	0.46877	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	T	0.78117	0.4233	L	0.29908	0.895	0.40241	D	0.977963	D	0.71674	0.998	D	0.64144	0.922	T	0.75703	-0.3225	10	0.34782	T	0.22	-12.1447	4.8028	0.13305	0.0:0.7419:0.0:0.2581	.	67	Q9GZV9	FGF23_HUMAN	H	67	ENSP00000237837:Q67H	ENSP00000237837:Q67H	Q	-	3	2	2	FGF23	4358809	4358809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.843000	0.39259	2.532000	0.85374	0.655000	0.94253	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1	1	0	0		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000				72	71		475	469	1		1			0	0	132	0		1	0	0	0	0	0	0	72	475
C12orf4	57102	broad.mit.edu	37	12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T	rs559422887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0					ENST00000261250.3	1.000000	0.780000	1	9.600000e-01	0.990000	0.979004	0.990000	1.000000																										0				13						c.(1255-1257)cGg>cAg		chromosome 12 open reading frame 4							70.0	66.0	67.0					12																	4609488		2203	4300	6503	SO:0001583	missense	57102	7	121412	38				g.chr12:4609488C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1256G>A	chr12.hg19:g.4609488C>T	ENSP00000261250:p.Arg419Gln	0					C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	p.R419Q	NM_020374.2	NP_065107.1	0	0	0	1.930325	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	11	1343	-			D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	1	1	hg19	c.1256G>A	CCDS8528.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.257807	0.95368	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.85399	0.1130	9	0.72032	D	0.01	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	419	Q9NQ89	CL004_HUMAN	Q	419	.	ENSP00000261250:R419Q	R	-	2	0	0	C12orf4	4479749	4479749	1.000000	0.71417	0.992000	0.48379	0.793000	0.44817	7.412000	0.80091	2.658000	0.90341	0.591000	0.81541	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.879480	1	0.170000	NM_020374			25	25		215	212	1		1	1		0	0	50	0		9.999999e-01	9.480686e-01	0	6	0	38	0	25	215
C12orf4	57102	broad.mit.edu	37	12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318																																						ENST00000261250.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				13						c.(592-594)Ttt>Gtt		chromosome 12 open reading frame 4							142.0	135.0	137.0					12																	4634664		2203	4300	6503	SO:0001583	missense	57102	0	0					g.chr12:4634664A>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.592T>G	chr12.hg19:g.4634664A>C	ENSP00000261250:p.Phe198Val	0					C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	p.F198V	NM_020374.2	NP_065107.1	0	0	0	1.930325	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	5	679	-			D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	1	1	hg19	c.592T>G	CCDS8528.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614009	0.87359	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.77167	-0.2687	9	0.87932	D	0	.	15.6397	0.76989	1.0:0.0:0.0:0.0	.	198	Q9NQ89	CL004_HUMAN	V	198;198;25	.	ENSP00000261250:F198V	F	-	1	0	0	C12orf4	4504925	4504925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.645000	0.91049	2.150000	0.67090	0.455000	0.32223	TTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_020374			58	57		334	332	1		1	1		0	0	61	0		1	9.577260e-01	0	5	0	27	0	58	334
RAD51AP1	10635	broad.mit.edu	37	12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000544927.1	+	3	134	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000543041.1_5'UTR					RAD51 associated protein 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)			AGCACCAAAGGAGTTAAAACA	0.328																																						ENST00000544927.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(124-126)Gag>Tag		RAD51 associated protein 1							71.0	71.0	71.0					12																	4652985		2203	4298	6501	SO:0001587	stop_gained	10635	0	0					g.chr12:4652985G>T	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.124G>T	chr12.hg19:g.4652985G>T	ENSP00000446296:p.Glu42*	0					RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*	p.E42*			0	0	0	1.930325			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)	3	134	+				Nonsense_Mutation	SNP	ENST00000544927.1	0	1	hg19	c.124G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.934364|3.934364	0.73442|0.73442	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.575521|.	0.18618|.	N|.	0.135962|.	.|T	.|0.70378	.|0.3217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70040	.|-0.4981	.|4	0.13853|.	T|.	0.58|.	-7.1602|-7.1602	14.5515|14.5515	0.68070|0.68070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	42|36	.|.	ENSP00000228843:E42X|.	E|G	+|+	1|2	0|0	0|0	RAD51AP1|RAD51AP1	4523246|4523246	4523246|4523246	0.998000|0.998000	0.40836|0.40836	0.298000|0.298000	0.25002|0.25002	0.354000|0.354000	0.29330|0.29330	5.119000|5.119000	0.64679|0.64679	2.181000|2.181000	0.69327|0.69327	0.585000|0.585000	0.79938|0.79938	GAG|GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.217934	1	0.170000	NM_006479			44	45		196	192	1		1	1		0	0	74	0		1	9.917060e-01	0	15	0	21	0	44	196
DYRK4	8798	broad.mit.edu	37	12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D|DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D	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	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)			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)			TTTCGGTAGAGAAAATCATTC	0.458																																						ENST00000540757.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(670-672)gaG>gaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							132.0	120.0	124.0					12																	4708305		2203	4300	6503	SO:0001583	missense	8798	0	0					g.chr12:4708305G>T	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.672G>T	chr12.hg19:g.4708305G>T	ENSP00000441755:p.Glu224Asp	0					DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D|DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D	p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	0	0	0	1.930325	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)	7	832	+			A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	1	1	hg19	c.672G>T	CCDS8530.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458111	0.63401	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	5.29	5.29	0.74685	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	0.76111	0.3942	M	0.66939	2.045	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.888	D;P;P	0.63488	0.915;0.646;0.661	T	0.76806	-0.2823	10	0.51188	T	0.08	.	9.6876	0.40109	0.1571:0.0:0.8429:0.0	.	339;224;224	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	D	339;224;224;224	ENSP00000437534:E339D;ENSP00000441755:E224D;ENSP00000010132:E224D;ENSP00000439697:E224D	ENSP00000010132:E224D	E	+	3	2	2	DYRK4	4578566	4578566	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.103000	0.31062	2.467000	0.83353	0.555000	0.69702	GAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				80	79		348	344	1		1	0		0	0	82	0		1	9.334259e-02	0	0	0	3	0	80	348
DYRK4	8798	broad.mit.edu	37	12	4714099	4714099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000010132.5_Silent_p.S267S|RP11-500M8.7_ENST00000536588.1_5'Flank|DYRK4_ENST00000545342.1_5'Flank|DYRK4_ENST00000543431.1_Silent_p.S267S	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	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)			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)			ACATCCAAAGCCGGTTCTACC	0.562											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000540757.2	0.790000	0.300000	6.600000e-01	3.900000e-01	0.510000	0.532799	0.510000	0.510000																										0				27						c.(799-801)agC>agT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							61.0	59.0	60.0					12																	4714099		2203	4300	6503	SO:0001819	synonymous_variant	8798	0	0					g.chr12:4714099C>T	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.801C>T	chr12.hg19:g.4714099C>T		0		OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	DYRK4_ENST00000543431.1_Silent_p.S267S|RP11-500M8.7_ENST00000536588.1_5'Flank|DYRK4_ENST00000010132.5_Silent_p.S267S|DYRK4_ENST00000545342.1_5'Flank	p.S267S	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	0	0	0	1.930325	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)	9	961	+			A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	1	1	hg19	c.801C>T	CCDS8530.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-4.551622	1	0.170000				15	15		318	311	0		1	0		0	0	76	0		9.998596e-01	3.684607e-01	0	0	0	27	0	15	318
AKAP3	10566	broad.mit.edu	37	12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	333					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)			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						GAGTCGATGAGATCCGAGACC	0.483																																						ENST00000545990.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				51						c.(997-999)Ctc>Atc		A kinase (PRKA) anchor protein 3							168.0	156.0	160.0					12																	4737071		2203	4300	6503	SO:0001583	missense	10566	0	0					g.chr12:4737071G>T	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.997C>A	chr12.hg19:g.4737071G>T	ENSP00000440994:p.Leu333Ile	0					RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	p.L333I	NM_001278309.1	NP_001265238.1	0	0	0	1.930325	O75969	AKAP3_HUMAN		5	1521	-			O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	1	1	hg19	c.997C>A	CCDS8531.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122344	0.77436	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.14516	2.5;2.5	5.67	5.67	0.87782	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000031	T	0.40862	0.1134	M	0.78801	2.425	0.36442	D	0.865521	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.87932	D	0	-20.967	17.0413	0.86490	0.0:0.0:1.0:0.0	.	333	O75969	AKAP3_HUMAN	I	333	ENSP00000228850:L333I;ENSP00000440994:L333I	ENSP00000228850:L333I	L	-	1	0	0	AKAP3	4607332	4607332	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.569000	0.53827	2.828000	0.97474	0.655000	0.94253	CTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	1	0	1		2	2	2	0		0	0	46		46	42	1	2.060000	-20.000000	1	0.170000	NM_006422			42	42		242	240	1		1	1		0	0	46	0		1	3.436250e-01	0	3	0	5	0	42	242
NDUFA9	4704	broad.mit.edu	37	12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	353					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						CATTGAGGTGCTGCGGCGTCA	0.522																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1057-1059)Ctg>Atg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa							109.0	83.0	92.0					12																	4796197		2203	4300	6503	SO:0001583	missense	4704	0	0					g.chr12:4796197C>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1057C>A	chr12.hg19:g.4796197C>A	ENSP00000266544:p.Leu353Met	0					NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	p.L353M	NM_005002.4	NP_004993.1	0	0	0	1.930325	Q16795	NDUA9_HUMAN		11	1077	+			Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	1	1	hg19	c.1057C>A	CCDS8532.1	1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776740	0.70107	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	D;D	0.85702	-1.54;-2.02	5.23	3.27	0.37495	5.23	3.27	0.37495	.	0.070231	0.64402	D	0.000017	D	0.83991	0.5374	M	0.69463	2.115	0.54753	D	0.999987	D	0.63880	0.993	P	0.46975	0.533	D	0.84522	0.0628	10	0.72032	D	0.01	-10.6984	8.8668	0.35291	0.149:0.7701:0.0:0.081	.	353	Q16795	NDUA9_HUMAN	M	353;112	ENSP00000266544:L353M;ENSP00000439818:L112M	ENSP00000266544:L353M	L	+	1	2	2	NDUFA9	4666458	4666458	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.571000	0.36450	1.331000	0.45412	0.655000	0.94253	CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_005002			42	42		140	139	1		1	1		0	0	37	0		1	1	0	106	0	243	0	42	140
GALNT8	26290	broad.mit.edu	37	12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	561	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)			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						ACAGACCCTGGCAAGGCGGAG	0.448																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1681-1683)gGc>gTc		polypeptide N-acetylgalactosaminyltransferase 8							115.0	110.0	112.0					12																	4874633		2203	4300	6503	SO:0001583	missense	26290	0	0					g.chr12:4874633G>T	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.1682G>T	chr12.hg19:g.4874633G>T	ENSP00000252318:p.Gly561Val	0						p.G561V	NM_017417.1	NP_059113.1	0	0	0	1.930325	Q9NY28	GALT8_HUMAN		10	2019	+			B2RU02	Missense_Mutation	SNP	ENST00000252318.2	1	1	hg19	c.1682G>T	CCDS8533.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467896|1.467896	0.26335|0.26335	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000542998;ENST00000535354|ENST00000252318	.|T	.|0.35973	.|1.28	4.19|4.19	3.28|3.28	0.37604|0.37604	4.19|4.19	3.28|3.28	0.37604|0.37604	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57213|0.57213	0.2038|0.2038	M|M	0.79258|0.79258	2.445|2.445	0.37228|0.37228	D|D	0.905561|0.905561	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.64377|0.64377	-0.6422|-0.6422	5|10	.|0.62326	.|D	.|0.03	.|.	9.7348|9.7348	0.40382|0.40382	0.0:0.2109:0.7891:0.0|0.0:0.2109:0.7891:0.0	.|.	.|561	.|Q9NY28	.|GALT8_HUMAN	S|V	78;57|561	.|ENSP00000252318:G561V	.|ENSP00000252318:G561V	A|G	+|+	1|2	0|0	0|0	GALNT8|GALNT8	4744894|4744894	4744894|4744894	1.000000|1.000000	0.71417|0.71417	0.279000|0.279000	0.24732|0.24732	0.046000|0.046000	0.14306|0.14306	4.814000|4.814000	0.62627|0.62627	0.947000|0.947000	0.37659|0.37659	0.655000|0.655000	0.94253|0.94253	GCA|GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000	NM_017417			51	50		212	203	1		1	0		0	0	51	0		1	0	0	0	0	1	0	51	212
GALNT8	26290	broad.mit.edu	37	12	4881757	4881757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	636					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)			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						AGACCAACAGCCAGTGATCCT	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996578	0.990000	1.000000																										0				35						c.(1906-1908)agC>agT		polypeptide N-acetylgalactosaminyltransferase 8							80.0	73.0	76.0					12																	4881757		2203	4300	6503	SO:0001819	synonymous_variant	26290	0	0					g.chr12:4881757C>T	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.1908C>T	chr12.hg19:g.4881757C>T		0						p.S636S	NM_017417.1	NP_059113.1	0	0	0	1.930325	Q9NY28	GALT8_HUMAN		11	2245	+			B2RU02	Silent	SNP	ENST00000252318.2	1	1	hg19	c.1908C>T	CCDS8533.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	0	0	1		12	2	2	1		1	1	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_017417			25	24		170	167	0		1			1	0	61	0		9.908762e-01	0	0	0	0	0	0	25	170
KCNA6	3742	broad.mit.edu	37	12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T	rs546055797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000280684.3	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	81					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)			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)	ACCCCCTGAGGAACGAGTACT	0.657										HNSCC(72;0.22)																												ENST00000280684.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(241-243)agG>agT		potassium voltage-gated channel, shaker-related subfamily, member 6	Dalfampridine(DB06637)						52.0	54.0	53.0					12																	4919450		2203	4300	6503	SO:0001583	missense	3742	0	0					g.chr12:4919450G>T	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.243G>T	chr12.hg19:g.4919450G>T	ENSP00000280684:p.Arg81Ser	0	HNSCC(72;0.22)				RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S	p.R81S			0	0	0	1.930325	P17658	KCNA6_HUMAN		1	1109	+				Missense_Mutation	SNP	ENST00000280684.3	1	1	hg19	c.243G>T	CCDS8534.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	-3.05	0.05396	4.57	-3.05	0.05396	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.276440	0.30704	N	0.009042	T	0.80065	0.4555	M	0.67953	2.075	0.47994	D	0.999565	D	0.76494	0.999	D	0.78314	0.991	T	0.77953	-0.2394	10	0.59425	D	0.04	.	9.907	0.41381	0.1623:0.5184:0.3193:0.0	.	81	P17658	KCNA6_HUMAN	S	81	ENSP00000408321:R81S;ENSP00000280684:R81S	ENSP00000280684:R81S	R	+	3	2	2	KCNA6	4789711	4789711	0.994000	0.37717	0.558000	0.28319	0.993000	0.82548	0.182000	0.16900	-0.390000	0.07774	0.462000	0.41574	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_002235			88	87		426	417	1		1	0		0	0	87	0		1	2.990971e-02	0	0	0	2	0	88	426
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622																																						ENST00000382545.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999721	0.990000	1.000000																										1	Substitution - Missense(1)	p.A170T(1)	large_intestine(1)	63						c.(508-510)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)						81.0	81.0	81.0					12																	5021052		2203	4300	6503	SO:0001583	missense	3736	0	0					g.chr12:5021052G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.508G>A	chr12.hg19:g.5021052G>A	ENSP00000371985:p.Ala170Thr	0					KCNA1_ENST00000543874.2_Intron	p.A170T	NM_000217.2	NP_000208.2	0	0	0	1.930325	Q09470	KCNA1_HUMAN		2	1615	+			A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	1	1	hg19	c.508G>A	CCDS8535.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	0	KCNA1	4891313	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	0		2	2	2	0		0	0	103		103	100	1	2.060000	-19.999990	1	0.170000	NM_000217			70	67		522	495	1		1			0	0	103	0		1	0	0	0	0	0	0	70	522
KCNA1	3736	broad.mit.edu	37	12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627																																						ENST00000382545.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999742	0.990000	1.000000																										0				63						c.(523-525)Atg>Gtg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)						90.0	88.0	89.0					12																	5021067		2203	4300	6503	SO:0001583	missense	3736	0	0					g.chr12:5021067A>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.523A>G	chr12.hg19:g.5021067A>G	ENSP00000371985:p.Met175Val	0					KCNA1_ENST00000543874.2_Intron	p.M175V	NM_000217.2	NP_000208.2	0	0	0	1.930325	Q09470	KCNA1_HUMAN		2	1630	+			A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	1	1	hg19	c.523A>G	CCDS8535.1	1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101671	0.20632	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	3.54	0.40534	4.71	3.54	0.40534	.	0.040366	0.85682	D	0.000000	T	0.54870	0.1885	L	0.37850	1.14	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.51980	-0.8636	10	0.49607	T	0.09	.	11.076	0.48032	0.8442:0.1558:0.0:0.0	.	175	Q09470	KCNA1_HUMAN	V	175	ENSP00000371985:M175V	ENSP00000228858:M175V	M	+	1	0	0	KCNA1	4891328	4891328	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	5.838000	0.69388	0.917000	0.36895	-0.313000	0.08912	ATG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_000217			67	66		493	472	1		1			0	0	94	0		1	0	0	0	0	0	0	67	493
KCNA5	3741	broad.mit.edu	37	12	5153586	5153586	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	91					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTCGACGGCCGCCTCCCGAGG	0.731																																						ENST00000252321.3	1.000000	0.650000	1	8.900000e-01	0.990000	0.957920	0.990000	1.000000																										0				52						c.(271-273)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 5	Dalfampridine(DB06637)						10.0	11.0	11.0					12																	5153586		2172	4240	6412	SO:0001819	synonymous_variant	3741	0	0					g.chr12:5153586G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.273G>A	chr12.hg19:g.5153586G>A		0						p.P91P	NM_002234.3	NP_002225.2	0	0	0	1.930325	P22460	KCNA5_HUMAN		1	502	+			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	0	1	hg19	c.273G>A	CCDS8536.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-19.999180	1	0.170000	NM_002234			11	11		89	89	0		1			0	0	14	0		9.985661e-01	0	0	0	0	0	0	11	89
ANO2	57101	broad.mit.edu	37	12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000356134.5	-	16	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000546188.1_Missense_Mutation_p.T510M|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	514					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)			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						ACACTCCGTCGTGTTTGTTTC	0.458																																						ENST00000356134.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999868	0.990000	1.000000																										0				58						c.(1528-1530)aCg>aTg		anoctamin 2, calcium activated chloride channel							114.0	113.0	113.0					12																	5841705		2052	4196	6248	SO:0001583	missense	57101	0	0					g.chr12:5841705G>A	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.1529C>T	chr12.hg19:g.5841705G>A	ENSP00000348453:p.Thr510Met	0					ANO2_ENST00000546188.1_Missense_Mutation_p.T510M|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M	p.T510M	NM_001278596.1	NP_001265525.1	0	0	0	1.930325	Q9NQ90	ANO2_HUMAN		16	1600	-			C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	1	1	hg19	c.1529C>T		1	.	.	.	.	.	.	.	.	.	.	G	6.554	0.470520	0.12461	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.62	-3.57	0.04612	4.62	-3.57	0.04612	.	1.022950	0.07770	N	0.951566	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13415	-1.0510	10	0.30854	T	0.27	.	1.7965	0.03062	0.3634:0.1684:0.3517:0.1165	.	509	Q9NQ90-3	.	M	509;510;510;514;69	ENSP00000314048:T509M;ENSP00000348453:T510M;ENSP00000440981:T510M;ENSP00000443813:T69M	ENSP00000314048:T509M	T	-	2	0	0	ANO2	5711966	5711966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.560000	0.06102	-0.119000	0.15052	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-17.892570	1	0.170000	NM_020373			34	34		187	185	1		1			0	0	40	0		1	0	0	0	0	0	0	34	187
ANO2	57101	broad.mit.edu	37	12	5941725	5941725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000356134.5	-	6	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000546188.1_Silent_p.S223S|ANO2_ENST00000327087.8_Silent_p.S222S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	227					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)			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						GCAGAGCCGCGCTGAACTTCT	0.522																																						ENST00000356134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(667-669)agC>agT		anoctamin 2, calcium activated chloride channel							92.0	92.0	92.0					12																	5941725		2085	4227	6312	SO:0001819	synonymous_variant	57101	1	121090	27				g.chr12:5941725G>A	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.669C>T	chr12.hg19:g.5941725G>A		0					ANO2_ENST00000546188.1_Silent_p.S223S|ANO2_ENST00000327087.8_Silent_p.S222S	p.S223S	NM_001278596.1	NP_001265525.1	0	0	0	1.930325	Q9NQ90	ANO2_HUMAN		6	740	-			C4N787|Q9H847	Silent	SNP	ENST00000356134.5	1	1	hg19	c.669C>T		1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_020373			48	47		167	163	0		1			0	0	35	0		1	0	0	0	0	0	0	48	167
ANO2	57101	broad.mit.edu	37	12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000356134.5	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000546188.1_Missense_Mutation_p.E156D|ANO2_ENST00000327087.8_Missense_Mutation_p.E156D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	160					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)			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						GCTCAAATTCCTCCCGCTGCT	0.607																																						ENST00000356134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(466-468)gaG>gaT		anoctamin 2, calcium activated chloride channel							110.0	105.0	106.0					12																	6030260		2096	4228	6324	SO:0001583	missense	57101	0	0					g.chr12:6030260C>A	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.468G>T	chr12.hg19:g.6030260C>A	ENSP00000348453:p.Glu156Asp	0					ANO2_ENST00000546188.1_Missense_Mutation_p.E156D|ANO2_ENST00000327087.8_Missense_Mutation_p.E156D	p.E156D	NM_001278596.1	NP_001265525.1	0	0	0	1.930325	Q9NQ90	ANO2_HUMAN		3	539	-			C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	1	1	hg19	c.468G>T		1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487384	0.26686	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67171	-0.25;-0.25;-0.25	4.84	0.727	0.18254	4.84	0.727	0.18254	.	0.233174	0.36591	N	0.002519	T	0.45696	0.1355	L	0.29908	0.895	0.38548	D	0.949394	B	0.16603	0.018	B	0.20184	0.028	T	0.18023	-1.0350	10	0.41790	T	0.15	.	1.6431	0.02756	0.1484:0.4665:0.1359:0.2493	.	156	Q9NQ90-3	.	D	156;156;156;160	ENSP00000314048:E156D;ENSP00000348453:E156D;ENSP00000440981:E156D	ENSP00000314048:E156D	E	-	3	2	2	ANO2	5900521	5900521	0.879000	0.30193	0.996000	0.52242	0.849000	0.48306	-0.160000	0.10041	-0.157000	0.11059	-0.253000	0.11424	GAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_020373			57	54		266	257	1		1			0	0	86	0		1	0	0	0	0	0	0	57	266
VWF	7450	broad.mit.edu	37	12	6125267	6125267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	ENST00000261405.5	-	31	5697	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1815	VWFA 3; main binding site for collagens type I and III. {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)			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)	TTGGACCTGGCGGCATCAGCT	0.522																																						ENST00000261405.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				129						c.(5443-5445)Gcc>Acc		von Willebrand factor	Antihemophilic Factor(DB00025)						42.0	40.0	41.0					12																	6125267		2203	4300	6503	SO:0001583	missense	7450	1	121412	26				g.chr12:6125267C>T		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.5443G>A	chr12.hg19:g.6125267C>T	ENSP00000261405:p.Ala1815Thr	0						p.A1815T	NM_000552.3	NP_000543	0	0	0	1.930325	P04275	VWF_HUMAN		31	5697	-			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	0	1	hg19	c.5443G>A	CCDS8539.1	1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041065	0.75732	.	.	ENSG00000110799	ENST00000261405	T	0.80304	-1.36	5.11	5.11	0.69529	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000471	D	0.91274	0.7249	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92962	0.6390	10	0.87932	D	0	.	17.1259	0.86714	0.0:1.0:0.0:0.0	.	1815	P04275	VWF_HUMAN	T	1815	ENSP00000261405:A1815T	ENSP00000261405:A1815T	A	-	1	0	0	VWF	5995528	5995528	1.000000	0.71417	0.935000	0.37517	0.592000	0.36648	5.488000	0.66869	2.374000	0.81015	0.555000	0.69702	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	0	0	1		14	17	2	1		1	1	52		52	52	1	2.060000	-3.051393	1	0.170000	NM_000552			41	34		194	177	0		1	0		1	0	52	0		9.998819e-01	9.999786e-01	0	0	0	271	0	41	194
VWF	7450	broad.mit.edu	37	12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1379	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)			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)	CAGGGTGATGCGGGAGGCTTC	0.577																																						ENST00000261405.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999859	0.990000	1.000000																										0				129						c.(4135-4137)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						46.0	49.0	48.0					12																	6128448		2203	4300	6503	SO:0001583	missense	7450	2	121400	36				g.chr12:6128448C>T		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.4136G>A	chr12.hg19:g.6128448C>T	ENSP00000261405:p.Arg1379His	0						p.R1379H	NM_000552.3	NP_000543	0	0	0	1.930325	P04275	VWF_HUMAN		28	4390	-			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	1	1	hg19	c.4136G>A	CCDS8539.1	1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575938	0.45902	.	.	ENSG00000110799	ENST00000261405	D	0.83419	-1.72	4.98	3.13	0.36017	4.98	3.13	0.36017	von Willebrand factor, type A (3);	0.328267	0.22298	N	0.061915	D	0.82852	0.5127	M	0.86420	2.815	0.28777	N	0.90008	B	0.32350	0.366	B	0.34536	0.185	T	0.77752	-0.2470	10	0.52906	T	0.07	.	6.7007	0.23223	0.0:0.6382:0.0:0.3618	.	1379	P04275	VWF_HUMAN	H	1379	ENSP00000261405:R1379H	ENSP00000261405:R1379H	R	-	2	0	0	VWF	5998709	5998709	0.991000	0.36638	0.371000	0.25978	0.644000	0.38419	2.269000	0.43346	0.683000	0.31428	-0.300000	0.09419	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	1	0	1		2	2	2	0		0	0	91		91	92	1	2.060000	-3.221885	1	0.170000	NM_000552			63	63		443	432	1		1	0		0	0	91	0		1	1	0	0	0	274	0	63	443
CD9	928	broad.mit.edu	37	12	6334663	6334663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382518.1	+	3	574	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000382515.2_5'UTR|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	46					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478																																						ENST00000382518.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(136-138)gaG>gaA		CD9 molecule							125.0	114.0	118.0					12																	6334663		2203	4300	6503	SO:0001819	synonymous_variant	928	0	0					g.chr12:6334663G>A	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.138G>A	chr12.hg19:g.6334663G>A		0					CD9_ENST00000382515.2_5'UTR|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Silent_p.E46E	p.E46E			0	0	0	1.930325	P21926	CD9_HUMAN		3	574	+			D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	1	1	hg19	c.138G>A	CCDS8540.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1	1	0	1		2	2	2	0		0	0	50		50	51	1	2.060000	-20.000000	1	0.170000				74	74		288	278	0		1	1		0	0	50	0		1	1	0	256	0	907	0	74	288
PLEKHG6	55200	broad.mit.edu	37	12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000396988.3	+	4	576	c.346T>C	c.(346-348)Ttt>Ctt	p.F116L	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.F84L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTCAGCATGTTTGGGATGCC	0.632																																						ENST00000396988.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				23						c.(346-348)Ttt>Ctt		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							95.0	83.0	87.0					12																	6424222		2203	4300	6503	SO:0001583	missense	55200	0	0					g.chr12:6424222T>C	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.346T>C	chr12.hg19:g.6424222T>C	ENSP00000380185:p.Phe116Leu	0					PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.F84L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L	p.F116L	NM_001144856.1	NP_001138328.1	0	0	0	1.930325	Q3KR16	PKHG6_HUMAN		4	576	+			Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	1	1	hg19	c.346T>C	CCDS8541.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834600	0.91036	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68765	-0.24;-0.19;-0.24;-0.35	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000090	T	0.80008	0.4545	M	0.78049	2.395	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.993	D;D;D	0.72625	0.96;0.953;0.978	T	0.81876	-0.0731	10	0.62326	D	0.03	-15.716	11.008	0.47646	0.0:0.0:0.0:1.0	.	84;116;116	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	L	116;116;116;84	ENSP00000011684:F116L;ENSP00000442836:F116L;ENSP00000380185:F116L;ENSP00000393194:F84L	ENSP00000011684:F116L	F	+	1	0	0	PLEKHG6	6294483	6294483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.189000	0.65098	2.101000	0.63845	0.482000	0.46254	TTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	NM_018173			70	70		479	463	1		1	1		0	0	112	0		1	9.769230e-01	0	17	0	26	0	70	479
TNFRSF1A	7132	broad.mit.edu	37	12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	377	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701																																						ENST00000162749.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997868	0.990000	1.000000																										0				19						c.(1129-1131)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 1A							15.0	16.0	16.0					12																	6438717		2201	4295	6496	SO:0001583	missense	7132	0	0					g.chr12:6438717G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1129C>T	chr12.hg19:g.6438717G>A	ENSP00000162749:p.Arg377Cys	0					TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	p.R377C	NM_001065.3	NP_001056.1	0	0	0	1.930325	P19438	TNR1A_HUMAN		10	1428	-			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	1	1	hg19	c.1129C>T	CCDS8542.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341803	0.81911	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85773	-2.03;-2.03	4.88	3.97	0.46021	4.88	3.97	0.46021	Death (3);DEATH-like (2);	0.519751	0.21185	N	0.078750	D	0.89969	0.6869	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.938;0.973	D	0.88600	0.3149	10	0.41790	T	0.15	-18.7777	11.7065	0.51599	0.0893:0.0:0.9107:0.0	.	334;377	F5H061;P19438	.;TNR1A_HUMAN	C	377;334	ENSP00000162749:R377C;ENSP00000438343:R334C	ENSP00000162749:R377C	R	-	1	0	0	TNFRSF1A	6308978	6308978	1.000000	0.71417	0.746000	0.31095	0.990000	0.78478	3.202000	0.51067	1.138000	0.42230	0.561000	0.74099	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_001065			17	17		87	83	0		1	1		0	0	25	0		9.999712e-01	1	0	35	0	231	0	17	87
TNFRSF1A	7132	broad.mit.edu	37	12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	rs104895278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	124					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		21035	0.0		0.0	False		,,,				2504	0.002					ENST00000162749.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				19	GRCh37	CM065492	TNFRSF1A	M	rs104895278	c.(370-372)Gtg>Atg		tumor necrosis factor receptor superfamily, member 1A							94.0	90.0	91.0					12																	6442635		2203	4300	6503	SO:0001583	missense	7132	32	121412	44				g.chr12:6442635C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.370G>A	chr12.hg19:g.6442635C>T	ENSP00000162749:p.Val124Met	0					TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M	p.V124M	NM_001065.3	NP_001056.1	0	0	0	1.930325	P19438	TNR1A_HUMAN		4	669	-			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	1	1	hg19	c.370G>A	CCDS8542.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686207	0.68157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.06	4.14	0.48551	5.06	4.14	0.48551	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.203911	0.42053	D	0.000770	D	0.95999	0.8697	M	0.79475	2.455	0.41995	D	0.990861	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.917;0.961	D	0.95675	0.8727	10	0.51188	T	0.08	-12.9729	13.0176	0.58766	0.0:0.8363:0.1637:0.0	.	124;81;124	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	M	124;81;124;124;124;115	ENSP00000162749:V124M;ENSP00000438343:V81M;ENSP00000442059:V124M;ENSP00000380389:V124M;ENSP00000413224:V124M;ENSP00000442919:V115M	ENSP00000162749:V124M	V	-	1	0	0	TNFRSF1A	6312896	6312896	0.401000	0.25303	0.637000	0.29366	0.931000	0.56810	3.042000	0.49815	1.077000	0.40990	0.561000	0.74099	GTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_001065			33	32		155	152	1		1	1		0	0	25	0		1	1	0	213	0	624	0	33	155
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	rs545954539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					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)			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)	TCGGAACCTTCGGAGCAGCAT	0.622																																						ENST00000228916.2	1.000000	0.390000	8.700000e-01	5.200000e-01	0.680000	0.695586	0.680000	1.000000																										0				27						c.(1756-1758)cGa>cAa		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						53.0	53.0	53.0					12																	6457292		2203	4300	6503	SO:0001583	missense	6337	4	121412	37				g.chr12:6457292C>T	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.1757G>A	chr12.hg19:g.6457292C>T	ENSP00000228916:p.Arg586Gln	0					SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q	p.R586Q	NM_001038.5	NP_001029.1	0	0	0	1.930325	P37088	SCNNA_HUMAN		13	1855	-			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	1	1	hg19	c.1757G>A	CCDS8543.1	0	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	0	SCNN1A	6327553	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-17.185280	1	0.170000				14	14		221	217	1		1	1		0	0	69	0		9.997528e-01	9.994012e-01	0	29	0	173	0	14	221
SCNN1A	6337	broad.mit.edu	37	12	6457894	6457894	+	Splice_Site	SNP	G	G	A	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000228916.2	-	12	1726	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					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)			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)	ACGACCTACCGTGACAGAGGG	0.537																																						ENST00000228916.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996033	0.990000	1.000000																										0				27						c.(1627-1629)aCg>aTg		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						131.0	117.0	122.0					12																	6457894		2203	4300	6503	SO:0001630	splice_region_variant	6337	2	121412	37				g.chr12:6457894G>A	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.1629+1C>T	chr12.hg19:g.6457894G>A		0					SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M|SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M	p.T543M	NM_001038.5	NP_001029.1	0	0	0	1.930325	P37088	SCNNA_HUMAN		12	1726	-			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Splice_Site	SNP	ENST00000228916.2	1	0	hg19	c.1628C>T	CCDS8543.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540820	0.65085	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.087235	0.49305	D	0.000157	T	0.79275	0.4418	M	0.85299	2.745	0.46631	D	0.999132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.959;0.954	T	0.82234	-0.0558	10	0.87932	D	0	-21.3724	10.9631	0.47397	0.0:0.0:0.8132:0.1868	.	566;543;602	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	602;565;243;543;566	ENSP00000353292:T602M;ENSP00000351825:T565M;ENSP00000440876:T243M;ENSP00000228916:T543M;ENSP00000438739:T566M	ENSP00000228916:T543M	T	-	2	0	0	SCNN1A	6328155	6328155	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.608000	0.61141	2.331000	0.79229	0.591000	0.81541	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		47	47		381	372	1		1	1		0	0	91	0		1	9.999950e-01	0	22	0	125	0	47	381
TAPBPL	55080	broad.mit.edu	37	12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	356	Ig-like C1-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)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597																																						ENST00000266556.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1066-1068)aGg>aTg		TAP binding protein-like							96.0	86.0	90.0					12																	6567973		2203	4300	6503	SO:0001583	missense	55080	0	0					g.chr12:6567973G>T	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.1067G>T	chr12.hg19:g.6567973G>T	ENSP00000266556:p.Arg356Met	0					TAPBPL_ENST00000545700.1_3'UTR	p.R356M	NM_018009.4	NP_060479.3	0	0	0	1.930325	Q9BX59	TPSNR_HUMAN		5	1232	+			Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	1	1	hg19	c.1067G>T	CCDS8546.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309243	0.81247	.	.	ENSG00000139192	ENST00000266556	T	0.02916	4.11	5.22	5.22	0.72569	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.55990	1.75	0.47994	D	0.999564	D	0.71674	0.998	D	0.70935	0.971	T	0.00192	-1.1935	10	0.87932	D	0	-24.2099	14.6634	0.68891	0.0:0.0:1.0:0.0	.	356	Q9BX59	TPSNR_HUMAN	M	356	ENSP00000266556:R356M	ENSP00000266556:R356M	R	+	2	0	0	TAPBPL	6438234	6438234	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.395000	0.73228	2.603000	0.88011	0.650000	0.86243	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.444590	1	0.170000	NM_018009			60	59		266	261	1		1	1		0	0	79	0		1	1	0	37	0	111	0	60	266
MRPL51	51258	broad.mit.edu	37	12	6601500	6601500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000229238.3	-	3	785	c.324C>T	c.(322-324)caC>caT	p.H108H	NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Silent_p.H12H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	108					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448																																						ENST00000229238.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(322-324)caC>caT		mitochondrial ribosomal protein L51							296.0	284.0	288.0					12																	6601500		2203	4300	6503	SO:0001819	synonymous_variant	51258	0	0					g.chr12:6601500G>A	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.324C>T	chr12.hg19:g.6601500G>A		0					MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Silent_p.H12H|NCAPD2_ENST00000545962.1_5'Flank	p.H108H	NM_016497.3	NP_057581.2	0	0	0	1.930325	Q4U2R6	RM51_HUMAN		3	785	-			Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	1	1	hg19	c.324C>T	CCDS8547.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	1	0	1		2	2	2	0		0	0	254		254	252	1	2.060000	-20.000000	1	0.170000	NM_016497			176	171		894	880	1		1	1		0	0	254	0		1	1	0	170	0	561	0	176	894
NCAPD2	9918	broad.mit.edu	37	12	6618917	6618917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000315579.5	+	3	961	c.162G>A	c.(160-162)ctG>ctA	p.L54L	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	54	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413																																						ENST00000315579.5	0.680000	0.390000	6.100000e-01	4.500000e-01	0.520000	0.534205	0.520000	0.530000																										0				48						c.(160-162)ctG>ctA		non-SMC condensin I complex, subunit D2							158.0	161.0	160.0					12																	6618917		2203	4300	6503	SO:0001819	synonymous_variant	9918	0	0					g.chr12:6618917G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.162G>A	chr12.hg19:g.6618917G>A		0					NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*|SCARNA10_ENST00000459255.1_RNA	p.L54L	NM_014865.3	NP_055680.3	0	0	0	1.930325	Q15021	CND1_HUMAN		3	961	+			D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	0	1	hg19	c.162G>A	CCDS8548.1	0	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499784	0.44455	.	.	ENSG00000010292	ENST00000545962	.	.	.	5.41	-0.64	0.11493	5.41	-0.64	0.11493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9232	4.2976	0.10910	0.0708:0.1993:0.3311:0.3987	.	.	.	.	X	29	.	.	W	+	2	0	0	NCAPD2	6489178	6489178	0.999000	0.42202	0.948000	0.38648	0.289000	0.27227	0.731000	0.26058	0.204000	0.20548	0.555000	0.69702	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	0	0	1		2	2	2	0		0	0	198		198	198	1	2.060000	-5.020883	1	0.170000	NM_014865			47	47		966	942	0		1	1		0	0	198	0		1	7.959758e-01	0	3	0	60	0	47	966
NCAPD2	9918	broad.mit.edu	37	12	6619865	6619865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Silent_p.N66N	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	111	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498																																						ENST00000315579.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(331-333)aaC>aaT		non-SMC condensin I complex, subunit D2							127.0	122.0	124.0					12																	6619865		2203	4300	6503	SO:0001819	synonymous_variant	9918	4	121412	38				g.chr12:6619865C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.333C>T	chr12.hg19:g.6619865C>T		0					NCAPD2_ENST00000545962.1_Silent_p.N66N|SCARNA10_ENST00000459255.1_RNA	p.N111N	NM_014865.3	NP_055680.3	0	0	0	1.930325	Q15021	CND1_HUMAN		5	1132	+			D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	1	1	hg19	c.333C>T	CCDS8548.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_014865			75	73		403	394	1		1	1		0	0	105	0		1	9.998554e-01	0	15	0	56	0	75	403
NCAPD2	9918	broad.mit.edu	37	12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	233	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488																																						ENST00000315579.5	1.000000	0.820000	1	9.100000e-01	0.990000	0.970152	0.990000	1.000000																										0				48						c.(697-699)cGt>cAt		non-SMC condensin I complex, subunit D2							177.0	176.0	176.0					12																	6623541		2203	4300	6503	SO:0001583	missense	9918	1	121412	38				g.chr12:6623541G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.698G>A	chr12.hg19:g.6623541G>A	ENSP00000325017:p.Arg233His	0					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	p.R233H	NM_014865.3	NP_055680.3	0	0	0	1.930325	Q15021	CND1_HUMAN		7	1497	+			D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	1	1	hg19	c.698G>A	CCDS8548.1	1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044904	0.36085	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88896	-2.44;-2.44;-2.44	5.79	4.9	0.64082	5.79	4.9	0.64082	Condensin complex, subunit 1, N-terminal (1);	0.169936	0.52532	N	0.000077	D	0.84915	0.5578	L	0.40543	1.245	0.27882	N	0.939653	B;B;B	0.30146	0.078;0.27;0.142	B;B;B	0.37989	0.014;0.262;0.056	T	0.74057	-0.3787	10	0.17832	T	0.49	-5.5111	11.5501	0.50716	0.154:0.0:0.846:0.0	.	188;194;233	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	233;105;188;105	ENSP00000325017:R233H;ENSP00000371895:R105H;ENSP00000444417:R188H	ENSP00000325017:R233H	R	+	2	0	0	NCAPD2	6493802	6493802	0.998000	0.40836	0.034000	0.17996	0.901000	0.52897	4.150000	0.58098	1.451000	0.47736	0.643000	0.83706	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1		2	2	2	0		0	0	205		205	200	1	2.060000	-19.999400	1	0.170000	NM_014865			97	96		987	960	1		1	1		0	0	205	0		1	9.954944e-01	0	9	0	74	0	97	987
NCAPD2	9918	broad.mit.edu	37	12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	455	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478																																						ENST00000315579.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				48						c.(1363-1365)caG>caT		non-SMC condensin I complex, subunit D2							85.0	86.0	86.0					12																	6626806		2203	4300	6503	SO:0001583	missense	9918	0	0					g.chr12:6626806G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1365G>T	chr12.hg19:g.6626806G>T	ENSP00000325017:p.Gln455His	0					NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	p.Q455H	NM_014865.3	NP_055680.3	0	0	0	1.930325	Q15021	CND1_HUMAN		12	2164	+			D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	1	1	hg19	c.1365G>T	CCDS8548.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880287	0.72294	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08720	3.06;3.06;3.06	5.49	4.6	0.57074	5.49	4.6	0.57074	Armadillo-type fold (1);	0.348665	0.33959	N	0.004393	T	0.12433	0.0302	L	0.27053	0.805	0.42037	D	0.991051	D;P;P	0.54397	0.966;0.747;0.943	P;P;P	0.53809	0.735;0.497;0.547	T	0.05954	-1.0854	10	0.45353	T	0.12	-16.3621	14.1457	0.65349	0.0727:0.0:0.9273:0.0	.	410;416;455	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	455;327;410;327	ENSP00000325017:Q455H;ENSP00000371895:Q327H;ENSP00000444417:Q410H	ENSP00000325017:Q455H	Q	+	3	2	2	NCAPD2	6497067	6497067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	1.323000	0.45263	0.561000	0.74099	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_014865			51	48		233	228	1		1	1		0	0	79	0		1	9.999961e-01	0	21	0	67	0	51	233
NCAPD2	9918	broad.mit.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493																																						ENST00000315579.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R997C(1)	endometrium(1)	48						c.(2989-2991)Cgt>Tgt		non-SMC condensin I complex, subunit D2							132.0	132.0	132.0					12																	6637024		2203	4300	6503	SO:0001583	missense	9918	2	121412	39				g.chr12:6637024C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	chr12.hg19:g.6637024C>T	ENSP00000325017:p.Arg997Cys	0					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	p.R997C	NM_014865.3	NP_055680.3	0	0	0	1.930325	Q15021	CND1_HUMAN		23	3788	+			D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	1	1	hg19	c.2989C>T	CCDS8548.1	1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	0	NCAPD2	6507285	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-2.446165	0	0.170000	NM_014865			125	124		639	632	1		1	1		0	0	158	0		1	1	0	39	0	125	0	125	639
IFFO1	25900	broad.mit.edu	37	12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000396840.2	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_ENST00000336604.4_Missense_Mutation_p.A89T|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	89						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687																																						ENST00000396840.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.993586	0.990000	1.000000																										0				20						c.(265-267)Gcc>Acc		intermediate filament family orphan 1							42.0	45.0	44.0					12																	6664931		2203	4300	6503	SO:0001583	missense	25900	0	0					g.chr12:6664931C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.265G>A	chr12.hg19:g.6664931C>T	ENSP00000380052:p.Ala89Thr	0					NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T|IFFO1_ENST00000336604.4_Missense_Mutation_p.A89T	p.A89T			0	0	0	1.930325	Q0D2I5	IFFO1_HUMAN		1	306	-			Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	1	1	hg19	c.265G>A		1	.	.	.	.	.	.	.	.	.	.	C	33	5.281834	0.95489	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.95980	-3.87;-3.87;-3.87	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.254984	0.23266	N	0.050068	D	0.94551	0.8245	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	D	0.95380	0.8472	10	0.87932	D	0	-16.8933	15.5044	0.75725	0.0:1.0:0.0:0.0	.	89;89;89;89	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	89	ENSP00000337593:A89T;ENSP00000380052:A89T;ENSP00000349364:A89T	ENSP00000337593:A89T	A	-	1	0	0	IFFO1	6535192	6535192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.614000	0.74197	2.172000	0.68678	0.561000	0.74099	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.221887	1	0.170000	NM_080730			37	35		299	296	0		1	0		0	0	69	0		1	1.408516e-01	0	0	0	6	0	37	299
NOP2	4839	broad.mit.edu	37	12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000322166.5	-	12	1412	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	431					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)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTCCCAGCCGATGCAAGTTG	0.547																																						ENST00000322166.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(1291-1293)Cgg>Tgg		NOP2 nucleolar protein							66.0	71.0	69.0					12																	6670153		2123	4231	6354	SO:0001583	missense	4839	1	121100	27				g.chr12:6670153G>A		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.1291C>T	chr12.hg19:g.6670153G>A	ENSP00000313272:p.Arg431Trp	0					NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W	p.R431W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	0	0	0	1.930325	P46087	NOP2_HUMAN		12	1412	-			A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	1	1	hg19	c.1291C>T	CCDS58203.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335701	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.7	4.81	0.61882	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71656	0.929;0.974	D	0.87916	0.2700	10	0.87932	D	0	-25.0293	16.0388	0.80650	0.0:0.0:0.8645:0.1355	.	427;427	Q05BA7;P46087-2	.;.	W	431;464;427;427;431;427	ENSP00000444437:R431W;ENSP00000371858:R464W;ENSP00000439422:R427W;ENSP00000382392:R427W;ENSP00000313272:R431W;ENSP00000443150:R427W	ENSP00000313272:R431W	R	-	1	2	2	NOP2	6540414	6540414	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.498000	0.66931	1.391000	0.46566	-0.181000	0.13052	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_006170			38	37		140	137	1		1	1		0	0	28	0		1	1	0	58	0	92	0	38	140
CHD4	1108	broad.mit.edu	37	12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000357008.2	-	36	5299	c.5136G>A	c.(5134-5136)tgG>tgA	p.W1712*	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1712	Required for interaction with PCNT.				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)			central_nervous_system(2)	2						CTTCATTCTGCCAAAGGGAGT	0.488																																					Colon(32;586 792 4568 16848 45314)	ENST00000357008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(5134-5136)tgG>tgA		chromodomain helicase DNA binding protein 4							79.0	74.0	76.0					12																	6687287		2203	4300	6503	SO:0001587	stop_gained	1108	0	0					g.chr12:6687287C>T	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.5136G>A	chr12.hg19:g.6687287C>T	ENSP00000349508:p.Trp1712*	0					CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|RP5-940J5.6_ENST00000501075.2_RNA	p.W1712*	NM_001273.2	NP_001264.2	0	0	0	1.930325	Q14839	CHD4_HUMAN		36	5299	-			Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	0	1	hg19	c.5136G>A	CCDS8552.1	1	.	.	.	.	.	.	.	.	.	.	C	47	13.235734	0.99729	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	X	1737;1705;1740;1712;1686	.	ENSP00000312419:W1740X	W	-	3	0	0	CHD4	6557548	6557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_001273			73	73		283	272	0		1	1	1	0	0	85	1025		1	1	1	14	178	344	813	73	283
CHD4	1108	broad.mit.edu	37	12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000357008.2	-	31	4760	c.4597C>A	c.(4597-4599)Cca>Aca	p.P1533T	SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					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)			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000357008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(4597-4599)Cca>Aca		chromodomain helicase DNA binding protein 4							194.0	186.0	189.0					12																	6690899		2203	4300	6503	SO:0001583	missense	1108	0	0					g.chr12:6690899G>T	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.4597C>A	chr12.hg19:g.6690899G>T	ENSP00000349508:p.Pro1533Thr	0					CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank	p.P1533T	NM_001273.2	NP_001264.2	0	0	0	1.930325	Q14839	CHD4_HUMAN		31	4760	-			Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	1	1	hg19	c.4597C>A	CCDS8552.1	1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664373	0.47572	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.58;-2.56	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.85392	0.5686	L	0.54323	1.7	0.58432	D	0.999997	B;B;P	0.36535	0.435;0.001;0.557	B;B;B	0.35971	0.116;0.002;0.215	T	0.82180	-0.0585	10	0.15066	T	0.55	-4.4237	14.78	0.69760	0.0:0.0:0.8557:0.1442	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1558;1526;1561;1533;1507	ENSP00000440392:P1558T;ENSP00000440542:P1526T;ENSP00000312419:P1561T;ENSP00000349508:P1533T	ENSP00000312419:P1561T	P	-	1	0	0	CHD4	6561160	6561160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.726000	0.93360	0.655000	0.94253	CCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_001273			80	78		420	406	1		1	1	1	0	0	99	218		1	1	1	113	40	207	228	80	420
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000357008.2	-	22	3477	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000357008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(3313-3315)cGg>cAg		chromodomain helicase DNA binding protein 4							175.0	147.0	156.0					12																	6700658		2203	4300	6503	SO:0001583	missense	1108	0	0					g.chr12:6700658C>T	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.3314G>A	chr12.hg19:g.6700658C>T	ENSP00000349508:p.Arg1105Gln	0					CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q	p.R1105Q	NM_001273.2	NP_001264.2	0	0	0	1.930325	Q14839	CHD4_HUMAN		22	3477	-			Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	1	1	hg19	c.3314G>A	CCDS8552.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759737	0.89932	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.15	5.15	0.70609	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.964	D	0.98797	1.0738	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1102;1098;1105;1105;1079	ENSP00000440392:R1102Q;ENSP00000440542:R1098Q;ENSP00000312419:R1105Q;ENSP00000349508:R1105Q	ENSP00000312419:R1105Q	R	-	2	0	0	CHD4	6570919	6570919	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-2.805046	1	0.170000	NM_001273			74	73		334	326	1		1	1	1	0	0	92	678		1	1	1	14	140	252	592	74	334
CHD4	1108	broad.mit.edu	37	12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000357008.2	-	18	2882	c.2719A>C	c.(2719-2721)Aac>Cac	p.N907H	CHD4_ENST00000544484.1_Missense_Mutation_p.N904H|CHD4_ENST00000309577.6_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	907	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			central_nervous_system(2)	2						TCCAGATTGTTTTGTAATGGT	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000357008.2	0.730000	0.290000	6.100000e-01	3.800000e-01	0.480000	0.503576	0.480000	0.480000																										0				2						c.(2719-2721)Aac>Cac		chromodomain helicase DNA binding protein 4							118.0	118.0	118.0					12																	6701917		2203	4300	6503	SO:0001583	missense	1108	0	0					g.chr12:6701917T>G	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.2719A>C	chr12.hg19:g.6701917T>G	ENSP00000349508:p.Asn907His	0					CHD4_ENST00000544484.1_Missense_Mutation_p.N904H|CHD4_ENST00000309577.6_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H	p.N907H	NM_001273.2	NP_001264.2	0	0	0	1.930325	Q14839	CHD4_HUMAN		18	2882	-			Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	1	1	hg19	c.2719A>C	CCDS8552.1	0	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371176	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.99509	1.0955	10	0.87932	D	0	23.5174	15.9051	0.79423	0.0:0.0:0.0:1.0	.	907;907;900	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	904;900;907;907;881	ENSP00000440392:N904H;ENSP00000440542:N900H;ENSP00000312419:N907H;ENSP00000349508:N907H	ENSP00000312419:N907H	N	-	1	0	0	CHD4	6572178	6572178	1.000000	0.71417	0.935000	0.37517	0.920000	0.55202	8.013000	0.88655	2.151000	0.67156	0.455000	0.32223	AAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-17.811780	1	0.170000	NM_001273			17	16		381	372	0		1	0	0	0	0	65	12		9.999593e-01	9.959081e-01	2.937965e-01	0	1	201	23	17	381
CHD4	1108	broad.mit.edu	37	12	6707221	6707221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000357008.2	-	12	1894	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_ENST00000544484.1_Silent_p.K574K|CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	577	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000357008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1729-1731)aaG>aaA		chromodomain helicase DNA binding protein 4							155.0	156.0	155.0					12																	6707221		2203	4300	6503	SO:0001819	synonymous_variant	1108	0	0					g.chr12:6707221C>T	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.1731G>A	chr12.hg19:g.6707221C>T		0					CHD4_ENST00000544484.1_Silent_p.K574K|CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K	p.K577K	NM_001273.2	NP_001264.2	0	0	0	1.930325	Q14839	CHD4_HUMAN		12	1894	-			Q8IXZ5	Silent	SNP	ENST00000357008.2	1	1	hg19	c.1731G>A	CCDS8552.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-20.000000	1	0.170000	NM_001273			185	181		734	730	1		1	1	1	0	0	172	848		1	1	1	6	179	171	759	185	734
LPAR5	57121	broad.mit.edu	37	12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692																																					NSCLC(74;891 2312 37538)	ENST00000329858.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.990818	0.990000	1.000000																										0				7						c.(832-834)Gtg>Atg		lysophosphatidic acid receptor 5							13.0	15.0	14.0					12																	6729583		2195	4284	6479	SO:0001583	missense	57121	0	0					g.chr12:6729583C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.832G>A	chr12.hg19:g.6729583C>T	ENSP00000327875:p.Val278Met	0					LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M|LPAR5_ENST00000540335.1_5'Flank	p.V278M	NM_020400.5	NP_065133.1	0	0	0	1.930325	Q9H1C0	LPAR5_HUMAN		2	1588	-				Missense_Mutation	SNP	ENST00000329858.4	0	1	hg19	c.832G>A	CCDS8553.1	1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947639	0.18356	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.38560	1.13;1.13	4.89	3.98	0.46160	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.251014	0.27831	N	0.017662	T	0.49949	0.1587	L	0.48260	1.515	0.23314	N	0.997925	D	0.76494	0.999	D	0.71184	0.972	T	0.34453	-0.9828	10	0.18710	T	0.47	.	8.7994	0.34898	0.0:0.7683:0.1522:0.0795	.	278	Q9H1C0	LPAR5_HUMAN	M	278	ENSP00000327875:V278M;ENSP00000393098:V278M	ENSP00000327875:V278M	V	-	1	0	0	LPAR5	6599844	6599844	0.049000	0.20398	0.787000	0.31911	0.365000	0.29674	3.192000	0.50989	1.232000	0.43678	0.491000	0.48974	GTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.999990	1	0.170000	NM_020400			15	13		96	93	1		1	1		0	0	18	0		9.998736e-01	3.161757e-01	0	2	0	6	0	15	96
LPAR5	57121	broad.mit.edu	37	12	6730346	6730346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000431922.1_Silent_p.R23R|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632																																					NSCLC(74;891 2312 37538)	ENST00000329858.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.997168	0.990000	1.000000																										0				7						c.(67-69)cgC>cgT		lysophosphatidic acid receptor 5							122.0	104.0	110.0					12																	6730346		2203	4300	6503	SO:0001819	synonymous_variant	57121	1	121220	35				g.chr12:6730346G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.69C>T	chr12.hg19:g.6730346G>A		0					LPAR5_ENST00000431922.1_Silent_p.R23R|LPAR5_ENST00000540335.1_5'UTR	p.R23R	NM_020400.5	NP_065133.1	0	0	0	1.930325	Q9H1C0	LPAR5_HUMAN		2	825	-				Silent	SNP	ENST00000329858.4	1	1	hg19	c.69C>T	CCDS8553.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_020400			16	16		83	82	1		1	1		0	0	25	0		9.999557e-01	9.995278e-01	0	15	0	57	0	16	83
ACRBP	84519	broad.mit.edu	37	12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGAAGATAGAGATTCAGAGTG	0.517																																						ENST00000229243.2	0.840000	0.280000	6.800000e-01	3.900000e-01	0.520000	0.544333	0.520000	0.510000																										0				17						c.(778-780)tCt>tAt		acrosin binding protein							186.0	157.0	167.0					12																	6753468		2203	4300	6503	SO:0001583	missense	84519	0	0					g.chr12:6753468G>T	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.779C>A	chr12.hg19:g.6753468G>T	ENSP00000229243:p.Ser260Tyr	0					ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y|ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000542357.1_5'Flank	p.S260Y	NM_032489.2	NP_115878.2	0	0	0	1.930325				5	872	-				Missense_Mutation	SNP	ENST00000229243.2	0	1	hg19	c.779C>A	CCDS8554.1	0	.	.	.	.	.	.	.	.	.	.	G	2.439	-0.329000	0.05314	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.52057	0.68;0.79	3.48	1.42	0.22433	3.48	1.42	0.22433	.	0.652572	0.14230	N	0.332834	T	0.35008	0.0917	L	0.54323	1.7	0.09310	N	1	B;B	0.26935	0.047;0.164	B;B	0.21917	0.037;0.037	T	0.23261	-1.0193	10	0.12766	T	0.61	-6.0415	6.3572	0.21408	0.2096:0.0:0.7904:0.0	.	227;260	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	260;227;260	ENSP00000229243:S260Y;ENSP00000402725:S227Y	ENSP00000229243:S260Y	S	-	2	0	0	ACRBP	6623729	6623729	0.036000	0.19791	0.001000	0.08648	0.187000	0.23431	1.590000	0.36654	0.348000	0.23949	0.491000	0.48974	TCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-14.103890	1	0.170000	NM_032489			12	12		251	245	0		1	1		0	0	41	0		9.990525e-01	2.399061e-01	0	2	0	17	0	12	251
MLF2	8079	broad.mit.edu	37	12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	231					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682																																						ENST00000203630.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(691-693)Gcc>Acc		myeloid leukemia factor 2							33.0	39.0	37.0					12																	6858017		2199	4290	6489	SO:0001583	missense	8079	0	0					g.chr12:6858017C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.691G>A	chr12.hg19:g.6858017C>T	ENSP00000203630:p.Ala231Thr	0					MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000564181.1_5'Flank	p.A231T			0	0	0	1.930325	Q15773	MLF2_HUMAN		8	1335	-				Missense_Mutation	SNP	ENST00000203630.5	1	1	hg19	c.691G>A	CCDS8559.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048903	0.75846	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.246438	0.40554	N	0.001074	T	0.44329	0.1288	N	0.24115	0.695	0.52501	D	0.999955	P	0.51791	0.948	P	0.45610	0.487	T	0.26677	-1.0096	9	0.17369	T	0.5	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	231	Q15773	MLF2_HUMAN	T	231	.	ENSP00000203630:A231T	A	-	1	0	0	MLF2	6728278	6728278	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.062000	0.64326	2.365000	0.80145	0.491000	0.48974	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2	1	0	1		2	2	2	0		0	0	89		89	84	1	2.060000	-20.000000	1	0.170000				81	79		402	390	1		1	1		0	0	89	0		1	1	0	207	0	571	0	81	402
CD4	920	broad.mit.edu	37	12	6925373	6925373	+	Silent	SNP	C	C	A	rs200065570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000011653.4	+	6	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	253	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTTGGATCACCTTTGACCTGA	0.572																																						ENST00000011653.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(757-759)acC>acA		CD4 molecule	Antithymocyte globulin(DB00098)						143.0	124.0	130.0					12																	6925373		2203	4300	6503	SO:0001819	synonymous_variant	920	0	0					g.chr12:6925373C>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.759C>A	chr12.hg19:g.6925373C>A		0					CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	p.T253T	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	0	0	0	1.930325	P01730	CD4_HUMAN		6	1017	+		Myeloproliferative disorder(1001;0.0122)	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	1	1	hg19	c.759C>A	CCDS8562.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-3.024008	1	0.170000	NM_000616			139	138		681	672	1		1	0		0	0	154	0		1	1	0	0	0	297	0	139	681
CD4	920	broad.mit.edu	37	12	6927707	6927707	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	426					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CGGCACCGAAGGGTGAGTAAC	0.602																																						ENST00000011653.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				23						c.(1276-1278)aGg>aTg		CD4 molecule	Antithymocyte globulin(DB00098)						59.0	57.0	58.0					12																	6927707		2203	4300	6503	SO:0001630	splice_region_variant	920	0	0					g.chr12:6927707G>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1278+1G>T	chr12.hg19:g.6927707G>T		0						p.R426M	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	0	0	0	1.930325	P01730	CD4_HUMAN		8	1535	+		Myeloproliferative disorder(1001;0.0122)	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Splice_Site	SNP	ENST00000011653.4	1	0	hg19	c.1277G>T	CCDS8562.1	1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606016	0.46527	.	.	ENSG00000010610	ENST00000011653	T	0.29655	1.56	4.23	2.16	0.27623	4.23	2.16	0.27623	T cell CD4 receptor C-terminal region (1);	0.338377	0.29073	N	0.013235	T	0.47673	0.1458	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.975	T	0.43130	-0.9410	10	0.49607	T	0.09	-17.5898	3.7669	0.08626	0.1334:0.0:0.6051:0.2615	.	247;426	B0AZV7;P01730	.;CD4_HUMAN	M	426	ENSP00000011653:R426M	ENSP00000011653:R426M	R	+	2	0	0	CD4	6797968	6797968	0.291000	0.24352	0.793000	0.32043	0.522000	0.34438	0.157000	0.16402	0.944000	0.37579	0.561000	0.74099	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.243912	1	0.170000	NM_000616	Missense_Mutation		45	43		236	233	1		1	0		0	0	56	0		1	1	0	0	0	253	0	45	236
CD4	920	broad.mit.edu	37	12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	GPR162_ENST00000311268.3_5'Flank|GPR162_ENST00000382315.3_5'Flank|GPR162_ENST00000428545.2_5'Flank	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	458					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ATGTAGCCCCATTTGAGGCAC	0.597																																						ENST00000011653.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1372-1374)Att>Gtt		CD4 molecule	Antithymocyte globulin(DB00098)						173.0	150.0	158.0					12																	6928490		2203	4300	6503	SO:0001583	missense	920	0	0					g.chr12:6928490A>G	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1372A>G	chr12.hg19:g.6928490A>G	ENSP00000011653:p.Ile458Val	0					GPR162_ENST00000382315.3_5'Flank|GPR162_ENST00000428545.2_5'Flank|GPR162_ENST00000311268.3_5'Flank	p.I458V	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	0	0	0	1.930325	P01730	CD4_HUMAN		10	1630	+		Myeloproliferative disorder(1001;0.0122)	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	1	1	hg19	c.1372A>G	CCDS8562.1	1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832811	0.50951	.	.	ENSG00000010610	ENST00000011653	T	0.22743	1.94	3.95	-3.52	0.04682	3.95	-3.52	0.04682	.	1.485190	0.04117	N	0.315664	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.011;0.026	T	0.41627	-0.9498	10	0.62326	D	0.03	-16.945	8.6422	0.33983	0.2449:0.6549:0.1002:0.0	.	279;458	B0AZV7;P01730	.;CD4_HUMAN	V	458	ENSP00000011653:I458V	ENSP00000011653:I458V	I	+	1	0	0	CD4	6798751	6798751	0.009000	0.17119	0.000000	0.03702	0.400000	0.30750	0.360000	0.20250	-0.621000	0.05633	0.454000	0.30748	ATT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	1	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-20.000000	1	0.170000	NM_000616			112	110		634	623	1		1	0		0	0	148	0		1	1	0	0	0	368	0	112	634
GPR162	27239	broad.mit.edu	37	12	6936268	6936268	+	Missense_Mutation	SNP	G	G	A	rs202194160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6936268G>A	ENST00000311268.3	+	5	2453	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.A252T|GPR162_ENST00000428545.2_Missense_Mutation_p.A272T	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	556						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGGACTAAGCGCAGGGAGACG	0.662													G|||	3	0.000599042	0.0008	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.001					ENST00000311268.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1666-1668)Gca>Aca		G protein-coupled receptor 162		G	THR/ALA,THR/ALA	0,4390		0,0,2195	47.0	56.0	53.0		1666,814	-5.2	0.0	12		53	1,8565		0,1,4282	yes	missense,missense	GPR162	NM_019858.1,NM_014449.1	58,58	0,1,6477	AA,AG,GG		0.0117,0.0,0.0077	benign,benign	556/589,272/305	6936268	1,12955	2195	4283	6478	SO:0001583	missense	27239	22	121238	45				g.chr12:6936268G>A	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.1666G>A	chr12.hg19:g.6936268G>A	ENSP00000311528:p.Ala556Thr	0					LEPREL2_ENST00000396725.2_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.A252T|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.A272T|LEPREL2_ENST00000251761.8_RNA	p.A556T	NM_019858.1	NP_062832.1	0	0	0	1.930325	Q16538	GP162_HUMAN		5	2453	+			Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	1	0	hg19	c.1666G>A	CCDS8563.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	8.703	0.910108	0.17833	0.0	1.17E-4	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.46063	3.02;0.88;0.88	4.52	-5.23	0.02798	4.52	-5.23	0.02798	.	.	.	.	.	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29181	-1.0020	9	0.10111	T	0.7	.	4.5993	0.12345	0.3751:0.0:0.1516:0.4733	.	272;556	Q16538-2;Q16538	.;GP162_HUMAN	T	556;272;252	ENSP00000311528:A556T;ENSP00000399670:A272T;ENSP00000371752:A252T	ENSP00000311528:A556T	A	+	1	0	0	GPR162	6806529	6806529	0.856000	0.29760	0.025000	0.17156	0.750000	0.42670	-0.122000	0.10627	-1.009000	0.03400	-1.333000	0.01266	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	1	0	1		2	2	2	0		0	0	106		106	102	1	2.060000	-20.000000	1	0.170000	NM_019858			126	124		494	485	0		1	0		0	0	106	0		1	7.743677e-01	0	0	0	13	0	126	494
GNB3	2784	broad.mit.edu	37	12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	62					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607																																						ENST00000229264.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(184-186)caC>caA		guanine nucleotide binding protein (G protein), beta polypeptide 3							118.0	108.0	111.0					12																	6952223		2203	4300	6503	SO:0001583	missense	2784	0	0					g.chr12:6952223C>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.186C>A	chr12.hg19:g.6952223C>A	ENSP00000229264:p.His62Gln	0					GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q|CDCA3_ENST00000604599.1_5'Flank	p.H62Q	NM_002075.2	NP_002066.1	0	0	0	1.930325	P16520	GBB3_HUMAN		5	591	+			Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	1	1	hg19	c.186C>A	CCDS8564.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649411	0.67358	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.26	2.4	0.29515	5.26	2.4	0.29515	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.45078	0.85;0.542	P;B	0.46275	0.51;0.248	T	0.28964	-1.0027	10	0.40728	T	0.16	-13.0059	10.6396	0.45586	0.0:0.7865:0.0:0.2135	.	62;62	E9PCP0;P16520	.;GBB3_HUMAN	Q	62	ENSP00000229264:H62Q;ENSP00000442002:H62Q;ENSP00000414734:H62Q;ENSP00000445967:H62Q	ENSP00000229264:H62Q	H	+	3	2	2	GNB3	6822484	6822484	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	0.606000	0.29965	0.491000	0.48974	CAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	1	0	1		2	2	2	0		0	0	70		70	62	1	2.060000	-3.354752	1	0.170000	NM_002075			55	53		272	264	1		1	0		0	0	70	0		1	1.379350e-01	0	0	0	4	0	55	272
CDCA3	83461	broad.mit.edu	37	12	6958344	6958344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000538862.2	-	6	1571	c.670C>T	c.(670-672)Cta>Tta	p.L224L	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000229265.6_Silent_p.L199L|CDCA3_ENST00000535406.1_Silent_p.L224L			Q99618	CDCA3_HUMAN	cell division cycle associated 3	224					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512																																						ENST00000538862.2	1.000000	0.670000	1	8.500000e-01	0.990000	0.946635	0.990000	1.000000																										0				8						c.(670-672)Cta>Tta		cell division cycle associated 3							83.0	72.0	76.0					12																	6958344		2203	4300	6503	SO:0001819	synonymous_variant	83461	1	121410	26				g.chr12:6958344G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.670C>T	chr12.hg19:g.6958344G>A		0					CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000229265.6_Silent_p.L199L|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000535406.1_Silent_p.L224L	p.L224L			0	0	0	1.930325	Q99618	CDCA3_HUMAN		6	1571	-			A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	1	1	hg19	c.670C>T	CCDS8565.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.075764	1	0.170000	NM_031299			20	19		193	189	0		1	1		0	0	48	0		9.999954e-01	6.095979e-01	0	4	0	17	0	20	193
USP5	8078	broad.mit.edu	37	12	6970734	6970734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	542	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)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622																																						ENST00000229268.8	1.000000	0.890000	1	9.900000e-01	0.990000	0.992980	0.990000	1.000000																										0				36						c.(1624-1626)gtC>gtT		ubiquitin specific peptidase 5 (isopeptidase T)							49.0	51.0	50.0					12																	6970734		2203	4300	6503	SO:0001819	synonymous_variant	8078	2	121402	32				g.chr12:6970734C>T	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.1626C>T	chr12.hg19:g.6970734C>T		0					USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	p.V542V	NM_001098536.1	NP_001092006.1	0	0	0	1.930325	P45974	UBP5_HUMAN		13	1678	+			D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	1	1	hg19	c.1626C>T	CCDS41743.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				42	42		350	344	1		1	1		0	0	59	0		1	9.999998e-01	0	51	0	144	0	42	350
TPI1	7167	broad.mit.edu	37	12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_Missense_Mutation_p.A36T|TPI1_ENST00000535434.1_5'Flank	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	73					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716																																						ENST00000229270.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(217-219)Gcc>Acc		triosephosphate isomerase 1							12.0	14.0	14.0					12																	6976836		2186	4279	6465	SO:0001583	missense	7167	0	0					g.chr12:6976836G>A		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.217G>A	chr12.hg19:g.6976836G>A	ENSP00000229270:p.Ala73Thr	0					TPI1_ENST00000396705.5_Missense_Mutation_p.A36T|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank	p.A73T	NM_001159287.1	NP_001152759.1	0	0	0	1.930325	P60174	TPIS_HUMAN		1	554	+			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	1	1	hg19	c.217G>A	CCDS53740.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878122	0.51801	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.93953	-3.32;-3.32	5.18	4.28	0.50868	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);	0.146358	0.45361	U	0.000372	D	0.89427	0.6712	L	0.39397	1.21	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	D	0.84739	0.0750	10	0.27082	T	0.32	.	14.7388	0.69437	0.0:0.0:0.8539:0.1461	.	73	P60174	TPIS_HUMAN	T	73;36	ENSP00000229270:A73T;ENSP00000379933:A36T	ENSP00000229270:A73T	A	+	1	0	0	TPI1	6847097	6847097	0.941000	0.31946	0.994000	0.49952	0.592000	0.36648	1.613000	0.36900	1.156000	0.42514	-0.357000	0.07601	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_000365			34	33		117	117	0		1	1		0	0	25	0		1	1	0	841	0	1597	0	34	117
TPI1	7167	broad.mit.edu	37	12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	281				I -> L (in Ref. 11; AA sequence). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999401	0.990000	1.000000																										0				19						c.(841-843)aTc>aGc		triosephosphate isomerase 1							86.0	75.0	79.0					12																	6979528		2203	4297	6500	SO:0001583	missense	7167	0	0					g.chr12:6979528T>G		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.842T>G	chr12.hg19:g.6979528T>G	ENSP00000229270:p.Ile281Ser	0		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S	p.I281S	NM_001159287.1	NP_001152759.1	0	0	0	1.930325	P60174	TPIS_HUMAN		7	1179	+			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	0	1	hg19	c.842T>G	CCDS53740.1	1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687550	0.88639	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.96073	-3.9;-3.9;-3.9	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.98738	0.9576	H	0.98936	4.375	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99581	1.0973	10	0.87932	D	0	.	15.392	0.74751	0.0:0.0:0.0:1.0	.	281	P60174	TPIS_HUMAN	S	281;244;162	ENSP00000229270:I281S;ENSP00000379933:I244S;ENSP00000443599:I162S	ENSP00000229270:I281S	I	+	2	0	0	TPI1	6849789	6849789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.117000	0.64856	0.459000	0.35465	ATC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	1	0	1		2	2	2	0		0	0	57		57	63	1	2.060000	-20.000000	1	0.170000	NM_000365			34	33		216	203	1		1	1		0	0	57	0		1	1	0	830	0	2815	0	34	216
ATN1	1822	broad.mit.edu	37	12	7045789	7045789	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	453					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)			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						GCCTCTTAGCCAACAGCAATG	0.622																																						ENST00000356654.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1357-1359)gcC>gcA		atrophin 1							157.0	157.0	157.0					12																	7045789		2203	4300	6503	SO:0001819	synonymous_variant	1822	0	0					g.chr12:7045789C>A	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.1359C>A	chr12.hg19:g.7045789C>A		0					ATN1_ENST00000396684.2_Silent_p.A453A	p.A453A	NM_001007026.1	NP_001007027.1	0	0	0	1.930325	P54259	ATN1_HUMAN		5	1596	+			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	1	1	hg19	c.1359C>A	CCDS31734.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1		2	2	2	0		0	0	331		331	323	1	2.060000	-20.000000	1	0.170000	NM_001940			268	257		1321	1239	1		1	1		0	0	331	0		1	1	0	59	0	312	0	268	1321
ATN1	1822	broad.mit.edu	37	12	7045981	7045981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	517	Involved in binding BAIAP2.				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)			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						CATTTCCCCACCCACTGGAGG	0.657																																						ENST00000356654.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1549-1551)caC>caT		atrophin 1							66.0	68.0	67.0					12																	7045981		2203	4300	6503	SO:0001819	synonymous_variant	1822	0	0					g.chr12:7045981C>T	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.1551C>T	chr12.hg19:g.7045981C>T		0					ATN1_ENST00000396684.2_Silent_p.H517H	p.H517H	NM_001007026.1	NP_001007027.1	0	0	0	1.930325	P54259	ATN1_HUMAN		5	1788	+			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	1	1	hg19	c.1551C>T	CCDS31734.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000	NM_001940			119	117		639	619	0		1	1		0	0	143	0		1	1	0	57	0	317	0	119	639
ATN1	1822	broad.mit.edu	37	12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	559	Involved in binding BAIAP2.				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)			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						GTGTCCTACAGCCAAGCAGGC	0.622																																						ENST00000356654.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1675-1677)aGc>aTc		atrophin 1							127.0	104.0	112.0					12																	7046106		2203	4300	6503	SO:0001583	missense	1822	0	0					g.chr12:7046106G>T	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.1676G>T	chr12.hg19:g.7046106G>T	ENSP00000349076:p.Ser559Ile	0					ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	p.S559I	NM_001007026.1	NP_001007027.1	0	0	0	1.930325	P54259	ATN1_HUMAN		5	1913	+			Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	1	1	hg19	c.1676G>T	CCDS31734.1	1	.	.	.	.	.	.	.	.	.	.	g	7.124	0.578461	0.13686	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55930	0.49;0.49;0.49	3.46	2.53	0.30540	3.46	2.53	0.30540	.	0.187035	0.25753	U	0.028527	T	0.33440	0.0863	N	0.22421	0.69	0.33143	D	0.544626	B	0.09022	0.002	B	0.11329	0.006	T	0.30060	-0.9991	10	0.33141	T	0.24	.	6.7927	0.23709	0.0942:0.0:0.7335:0.1723	.	559	P54259	ATN1_HUMAN	I	559;559;559;144	ENSP00000349076:S559I;ENSP00000379915:S559I;ENSP00000441744:S559I	ENSP00000229279:S144I	S	+	2	0	0	ATN1	6916367	6916367	0.978000	0.34361	1.000000	0.80357	0.608000	0.37181	1.073000	0.30691	0.751000	0.32900	0.586000	0.80456	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1		2	2	2	0		0	0	131		131	128	1	2.060000	-20.000000	1	0.170000	NM_001940			108	107		450	434	1		1	1		0	0	131	0		1	1	0	67	0	236	0	108	450
ATN1	1822	broad.mit.edu	37	12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	949					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)			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						CTCAAGCCTGGCTTTGAGGTG	0.647																																						ENST00000356654.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2845-2847)gGc>gAc		atrophin 1							50.0	58.0	55.0					12																	7047972		2203	4300	6503	SO:0001583	missense	1822	0	0					g.chr12:7047972G>A	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.2846G>A	chr12.hg19:g.7047972G>A	ENSP00000349076:p.Gly949Asp	0					ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	p.G949D	NM_001007026.1	NP_001007027.1	0	0	0	1.930325	P54259	ATN1_HUMAN		7	3083	+			Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	1	1	hg19	c.2846G>A	CCDS31734.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838724	0.91117	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.52295	0.67;0.67;0.67	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.34603	U	0.003829	T	0.67590	0.2909	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69499	-0.5129	10	0.66056	D	0.02	.	18.7426	0.91779	0.0:0.0:1.0:0.0	.	949	P54259	ATN1_HUMAN	D	949;949;949;534	ENSP00000349076:G949D;ENSP00000379915:G949D;ENSP00000441744:G949D	ENSP00000229279:G534D	G	+	2	0	0	ATN1	6918233	6918233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.235000	0.95353	2.731000	0.93534	0.650000	0.86243	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000	NM_001940			76	75		438	433	1		1	1		0	0	89	0		1	1	0	41	0	274	0	76	438
PTPN6	5777	broad.mit.edu	37	12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000318974.9	+	3	537	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C|PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	98	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627																																						ENST00000318974.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999764	0.990000	1.000000																										0				18						c.(292-294)tAc>tGc		protein tyrosine phosphatase, non-receptor type 6							96.0	110.0	105.0					12																	7061307		2189	4282	6471	SO:0001583	missense	5777	0	0					g.chr12:7061307A>G		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.293A>G	chr12.hg19:g.7061307A>G	ENSP00000326010:p.Tyr98Cys	0					PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C|PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C	p.Y98C	NM_002831.5	NP_002822.2	0	0	0	1.930325	P29350	PTN6_HUMAN		3	537	+			A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	1	1	hg19	c.293A>G	CCDS44820.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381149	0.61845	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.37	4.37	0.52481	4.37	4.37	0.52481	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.63843	1.955	0.58432	D	0.999999	P;B;P;B;P	0.43607	0.812;0.444;0.802;0.184;0.701	P;B;B;B;B	0.46659	0.523;0.44;0.44;0.184;0.343	D	0.95169	0.8288	10	0.46703	T	0.11	.	13.5971	0.61996	1.0:0.0:0.0:0.0	.	86;59;98;98;100	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	119;100;59;98;98;98;98;98;57	ENSP00000443393:Y119C;ENSP00000382376:Y100C;ENSP00000415979:Y59C;ENSP00000438740:Y98C;ENSP00000326010:Y98C;ENSP00000391592:Y98C;ENSP00000444337:Y98C;ENSP00000445646:Y98C;ENSP00000440114:Y57C	ENSP00000326010:Y98C	Y	+	2	0	0	PTPN6	6931568	6931568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.612000	0.50221	0.459000	0.35465	TAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	0	0	1		22	9	2	1		1	1	113		113	112	1	2.060000	-19.999650	1	0.170000	NM_002831			62	61		446	443	1		1	1		1	0	113	0		9.999988e-01	9.960572e-01	0	24	0	138	0	62	446
PTPN6	5777	broad.mit.edu	37	12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000318974.9	+	6	921	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	226					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582																																						ENST00000318974.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(676-678)cGa>cAa		protein tyrosine phosphatase, non-receptor type 6							144.0	158.0	154.0					12																	7064578		2065	4190	6255	SO:0001583	missense	5777	1	121026	29				g.chr12:7064578G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.677G>A	chr12.hg19:g.7064578G>A	ENSP00000326010:p.Arg226Gln	0					PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q	p.R226Q	NM_002831.5	NP_002822.2	0	0	0	1.930325	P29350	PTN6_HUMAN		6	921	+			A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	1	1	hg19	c.677G>A	CCDS44820.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.804738	0.96967	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.15372	2.5;2.45;2.45;2.43	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.84585	2.705	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;0.999;0.999	T	0.54702	-0.8254	10	0.56958	D	0.05	.	18.6319	0.91363	0.0:0.0:1.0:0.0	.	214;187;226;226;228	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	Q	228;187;226;226	ENSP00000382376:R228Q;ENSP00000415979:R187Q;ENSP00000326010:R226Q;ENSP00000391592:R226Q	ENSP00000326010:R226Q	R	+	2	0	0	PTPN6	6934839	6934839	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.336000	0.96533	2.465000	0.83290	0.561000	0.74099	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	1	0	1		2	2	2	0		0	0	187		187	185	1	2.060000	-3.222350	1	0.170000	NM_002831			138	137		730	712	1		1	1		0	0	187	0		1	1	0	34	0	170	0	138	730
PTPN6	5777	broad.mit.edu	37	12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000318974.9	+	10	1432	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	396	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607																																						ENST00000318974.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1186-1188)caG>caT		protein tyrosine phosphatase, non-receptor type 6							79.0	84.0	83.0					12																	7066930		2039	4166	6205	SO:0001583	missense	5777	0	0					g.chr12:7066930G>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1188G>T	chr12.hg19:g.7066930G>T	ENSP00000326010:p.Gln396His	0					PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H	p.Q396H	NM_002831.5	NP_002822.2	0	0	0	1.930325	P29350	PTN6_HUMAN		10	1432	+			A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	1	1	hg19	c.1188G>T	CCDS44820.1	1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066189	0.08388	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.08	3.24	0.37175	5.08	3.24	0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.505646	0.20813	N	0.085210	T	0.72179	0.3428	N	0.21282	0.65	0.24333	N	0.994999	B;B;B;B;B	0.21225	0.053;0.002;0.009;0.001;0.003	B;B;B;B;B	0.20184	0.028;0.007;0.011;0.013;0.011	T	0.59096	-0.7518	10	0.42905	T	0.14	.	11.9817	0.53123	0.0:0.3944:0.4492:0.1564	.	384;357;396;396;398	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	398;357;396;396	ENSP00000382376:Q398H;ENSP00000415979:Q357H;ENSP00000326010:Q396H;ENSP00000391592:Q396H	ENSP00000326010:Q396H	Q	+	3	2	2	PTPN6	6937191	6937191	0.699000	0.27786	0.827000	0.32855	0.302000	0.27658	0.183000	0.16919	0.171000	0.19730	-1.268000	0.01426	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_002831			58	58		171	170	1		1	1		0	0	44	0		1	1	0	54	0	199	0	58	171
LPCAT3	10162	broad.mit.edu	37	12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T	rs376479324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	104					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517																																						ENST00000261407.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995809	0.990000	1.000000																										0				17						c.(310-312)Ctt>Att		lysophosphatidylcholine acyltransferase 3							170.0	143.0	152.0					12																	7091893		2203	4300	6503	SO:0001583	missense	10162	0	0					g.chr12:7091893G>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.310C>A	chr12.hg19:g.7091893G>T	ENSP00000261407:p.Leu104Ile	0					U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	p.L104I	NM_005768.5	NP_005759.4	0	0	0	1.930325	Q6P1A2	MBOA5_HUMAN		3	395	-			B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	1	1	hg19	c.310C>A	CCDS8572.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110867	0.77210	.	.	ENSG00000111684	ENST00000261407	T	0.71934	-0.61	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.64170	1.965	0.58432	D	0.999999	D	0.62365	0.991	P	0.51016	0.656	T	0.70464	-0.4864	10	0.17369	T	0.5	-8.131	19.1278	0.93393	0.0:0.0:1.0:0.0	.	104	Q6P1A2	MBOA5_HUMAN	I	104	ENSP00000261407:L104I	ENSP00000261407:L104I	L	-	1	0	0	LPCAT3	6962154	6962154	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.477000	0.60223	2.756000	0.94617	0.561000	0.74099	CTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-12.175630	1	0.170000	NM_005768			24	23		165	158	1		1	1		0	0	52	0		9.999997e-01	1	0	79	0	198	0	24	165
C1S	716	broad.mit.edu	37	12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000406697.1	+	6	755	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*			P09871	C1S_HUMAN	complement component 1, s subcomponent	43	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)	TTGGGACATAGAAGTTCCTGA	0.473																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				33						c.(127-129)Gaa>Taa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						145.0	136.0	139.0					12																	7169900		2203	4300	6503	SO:0001587	stop_gained	716	0	0					g.chr12:7169900G>T		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.127G>T	chr12.hg19:g.7169900G>T	ENSP00000385035:p.Glu43*	0					C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron	p.E43*			0	0	0	1.930325	P09871	C1S_HUMAN		6	755	+			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	0	1	hg19	c.127G>T	CCDS31735.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.566988	0.98866	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	3.45	0.39498	5.77	3.45	0.39498	.	0.000000	0.43919	D	0.000504	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.3174	0.11000	0.089:0.2754:0.5153:0.1204	.	.	.	.	X	43;43;43;25;43;43;43	.	ENSP00000328173:E43X	E	+	1	0	0	C1S	7040161	7040161	0.002000	0.14202	0.996000	0.52242	0.976000	0.68499	0.258000	0.18387	2.724000	0.93272	0.561000	0.74099	GAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_001734			63	64		361	359	0		1	0		0	0	112	0		1	1	0	1	0	2460	0	63	361
C1S	716	broad.mit.edu	37	12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000406697.1	+	10	1475	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_ENST00000402681.3_Missense_Mutation_p.W116R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)	AAAAAAGGGCTGGAAACTTCG	0.428																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				33						c.(847-849)Tgg>Cgg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						135.0	128.0	131.0					12																	7173250		2203	4300	6503	SO:0001583	missense	716	0	0					g.chr12:7173250T>C		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.847T>C	chr12.hg19:g.7173250T>C	ENSP00000385035:p.Trp283Arg	0					C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R	p.W283R			0	0	0	1.930325	P09871	C1S_HUMAN		10	1475	+			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	1	1	hg19	c.847T>C	CCDS31735.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955948	0.73902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	5.75	0.90469	5.75	5.75	0.90469	CUB (5);	0.000000	0.39687	N	0.001290	T	0.53802	0.1819	M	0.89478	3.035	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.62978	-0.6739	10	0.87932	D	0	.	15.2367	0.73436	0.0:0.0:0.0:1.0	.	283	P09871	C1S_HUMAN	R	283;283;283;271;116;116	ENSP00000385035:W283R;ENSP00000328173:W283R;ENSP00000354057:W283R;ENSP00000384171:W116R;ENSP00000442298:W116R	ENSP00000328173:W283R	W	+	1	0	0	C1S	7043511	7043511	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.857000	0.69525	2.185000	0.69588	0.459000	0.35465	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_001734			51	50		331	325	1		1	1		0	0	73	0		1	1	0	7	0	2314	0	51	331
C1S	716	broad.mit.edu	37	12	7177355	7177355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000406697.1	+	15	2095	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_ENST00000402681.3_Silent_p.S322S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000328916.3_Silent_p.S489S			P09871	C1S_HUMAN	complement component 1, s subcomponent	489	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)			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)	ATGTTGGGTCCACCTCAGTGC	0.537																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999481	0.990000	1.000000																										0				33						c.(1465-1467)tcC>tcT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57.0	50.0	52.0					12																	7177355		2203	4300	6503	SO:0001819	synonymous_variant	716	0	0					g.chr12:7177355C>T		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.1467C>T	chr12.hg19:g.7177355C>T		0					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S	p.S489S			0	0	0	1.930325	P09871	C1S_HUMAN		15	2095	+			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	1	1	hg19	c.1467C>T	CCDS31735.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_001734			26	26		142	142	1		1	1		0	0	38	0		1	1	0	107	0	3190	0	26	142
C1S	716	broad.mit.edu	37	12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000406697.1	+	15	2318	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_ENST00000402681.3_Missense_Mutation_p.L397M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M			P09871	C1S_HUMAN	complement component 1, s subcomponent	564	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)			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)	GGATGGGGACCTGGGACTGAT	0.552																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1690-1692)Ctg>Atg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						52.0	49.0	50.0					12																	7177578		2203	4300	6503	SO:0001583	missense	716	0	0					g.chr12:7177578C>A		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.1690C>A	chr12.hg19:g.7177578C>A	ENSP00000385035:p.Leu564Met	0					C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M	p.L564M			0	0	0	1.930325	P09871	C1S_HUMAN		15	2318	+			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	1	1	hg19	c.1690C>A	CCDS31735.1	1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040696	0.35989	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.16	2.35	0.29111	5.16	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252645	0.20722	N	0.086888	T	0.73442	0.3587	N	0.12569	0.235	0.09310	N	0.999995	B	0.24882	0.113	B	0.26770	0.073	T	0.57763	-0.7755	10	0.16420	T	0.52	.	3.5999	0.08020	0.1378:0.5849:0.1332:0.1441	.	564	P09871	C1S_HUMAN	M	564;564;564;558;397	ENSP00000385035:L564M;ENSP00000328173:L564M;ENSP00000354057:L564M;ENSP00000384171:L397M	ENSP00000328173:L564M	L	+	1	2	2	C1S	7047839	7047839	0.044000	0.20184	0.241000	0.24154	0.018000	0.09664	0.253000	0.18296	0.330000	0.23485	0.561000	0.74099	CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001734			48	46		148	146	1		1	1		0	0	37	0		1	1	0	112	0	3510	0	48	148
C1RL	51279	broad.mit.edu	37	12	7249062	7249062	+	Silent	SNP	G	G	A	rs371455511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000266542.4	-	6	1481	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	463	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562																																						ENST00000266542.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999826	0.990000	1.000000																										0				16						c.(1387-1389)ggC>ggT		complement component 1, r subcomponent-like		G		0,4406		0,0,2203	132.0	115.0	121.0		1389	4.1	1.0	12		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1RL	NM_016546.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		463/488	7249062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51279	4	121412	39				g.chr12:7249062G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1389C>T	chr12.hg19:g.7249062G>A		0					C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	p.G463G	NM_016546.2	NP_057630.2	0	0	0	1.930325	Q9NZP8	C1RL_HUMAN		6	1481	-			Q53GX9	Silent	SNP	ENST00000266542.4	1	1	hg19	c.1389C>T	CCDS8573.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-3.142705	1	0.170000	NM_016546			61	60		430	414	1		1	1		0	0	95	0		1	1	0	13	0	172	0	61	430
CLSTN3	9746	broad.mit.edu	37	12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000266546.6	+	4	913	c.463A>T	c.(463-465)Aca>Tca	p.T155S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.T167S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	155	Cadherin 2. {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)			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						TGCGGCTGTGACAGAGGGGAA	0.567																																						ENST00000266546.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				33						c.(463-465)Aca>Tca		calsyntenin 3							213.0	133.0	160.0					12																	7288002		2203	4300	6503	SO:0001583	missense	9746	0	0					g.chr12:7288002A>T	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.463A>T	chr12.hg19:g.7288002A>T	ENSP00000266546:p.Thr155Ser	0					CLSTN3_ENST00000537408.1_Missense_Mutation_p.T167S	p.T155S	NM_014718.3	NP_055533.2	0	0	0	1.930325	Q9BQT9	CSTN3_HUMAN		4	913	+			D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	1	1	hg19	c.463A>T	CCDS8575.1	1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724125	0.48728	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.59083	0.29;0.29;0.91;1.27;1.27;0.29	5.01	3.87	0.44632	5.01	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.050981	0.85682	D	0.000000	T	0.46678	0.1405	L	0.36672	1.1	0.40695	D	0.982434	B;P	0.38250	0.033;0.624	B;B	0.39465	0.015;0.3	T	0.36915	-0.9728	9	.	.	.	-19.1582	10.4463	0.44497	0.9235:0.0:0.0765:0.0	.	167;155	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	155;118;118;118;138;167	ENSP00000266546:T155S;ENSP00000442612:T118S;ENSP00000443468:T118S;ENSP00000443490:T118S;ENSP00000442801:T138S;ENSP00000440679:T167S	.	T	+	1	0	0	CLSTN3	7179269	7179269	1.000000	0.71417	0.916000	0.36221	0.607000	0.37147	3.918000	0.56432	0.947000	0.37659	0.374000	0.22700	ACA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-19.998500	1	0.170000	NM_014718			52	48		334	323	1		1	1		0	0	71	0		1	9.999880e-01	0	20	0	89	0	52	334
CLSTN3	9746	broad.mit.edu	37	12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A	rs575113186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000266546.6	+	17	3056	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H	CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881H|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					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)			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						GGCCTGGTGCGCATCCATTCC	0.662																																						ENST00000266546.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998909	0.990000	1.000000																										0				33						c.(2605-2607)cGc>cAc		calsyntenin 3							68.0	58.0	62.0					12																	7310163		2203	4300	6503	SO:0001583	missense	9746	0	0					g.chr12:7310163G>A	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.2606G>A	chr12.hg19:g.7310163G>A	ENSP00000266546:p.Arg869His	0					CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881H|CLSTN3_ENST00000331148.5_3'UTR	p.R869H	NM_014718.3	NP_055533.2	0	0	0	1.930325	Q9BQT9	CSTN3_HUMAN		17	3056	+			D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	1	1	hg19	c.2606G>A	CCDS8575.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685658	0.88639	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39056	1.1;1.1	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.71563	-0.4555	10	0.87932	D	0	-28.1793	18.2262	0.89917	0.0:0.0:1.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	H	869;881	ENSP00000266546:R869H;ENSP00000440679:R881H	ENSP00000266546:R869H	R	+	2	0	0	CLSTN3	7201430	7201430	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	9.593000	0.98250	2.619000	0.88677	0.462000	0.41574	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.175217	1	0.170000	NM_014718			23	22		129	126	1		1	1		0	0	25	0		9.999995e-01	9.999995e-01	0	16	0	129	0	23	129
PEX5	5830	broad.mit.edu	37	12	7361053	7361053	+	Splice_Site	SNP	G	G	T	rs199624284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000455147.2	+	14	1762	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000412720.2_Splice_Site_p.R415S|PEX5_ENST00000266564.3_Splice_Site_p.R386S|PEX5_ENST00000266563.5_Splice_Site_p.R357S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	394					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537																																						ENST00000455147.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999900	0.990000	1.000000																										0				21						c.(1180-1182)agG>agT		peroxisomal biogenesis factor 5							39.0	34.0	36.0					12																	7361053		2203	4300	6503	SO:0001630	splice_region_variant	5830	7	121412	38				g.chr12:7361053G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1182-1G>T	chr12.hg19:g.7361053G>T		0					PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000266564.3_Splice_Site_p.R386S|PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000266563.5_Splice_Site_p.R357S|PEX5_ENST00000412720.2_Splice_Site_p.R415S	p.R394S	NM_001131026.1	NP_001124498.1	0	0	0	1.930325	P50542	PEX5_HUMAN		14	1762	+			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Splice_Site	SNP	ENST00000455147.2	1	0	hg19	c.1182G>T	CCDS44823.1	1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078261	0.55753	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.31	3.46	0.39613	5.31	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048768	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88979	2.995	0.58432	D	0.999998	P;B;P;B;D	0.67145	0.739;0.341;0.914;0.389;0.996	B;B;P;B;P	0.54140	0.299;0.163;0.729;0.193;0.743	T	0.77319	-0.2632	9	.	.	.	.	11.6969	0.51548	0.1455:0.0:0.8545:0.0	.	415;409;394;386;357	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	S	394;357;409;394;415;364;386	ENSP00000400647:R394S;ENSP00000266563:R357S;ENSP00000407401:R409S;ENSP00000410159:R394S;ENSP00000391601:R415S;ENSP00000379877:R364S;ENSP00000266564:R386S	.	R	+	3	2	2	PEX5	7252320	7252320	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	1.233000	0.43693	0.591000	0.81541	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_000319	Missense_Mutation		28	28		130	129	0		1	1		0	0	28	0		1	9.999077e-01	0	11	0	61	0	28	130
ACSM4	341392	broad.mit.edu	37	12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	123					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						ATTCTGCCCAGAATCCCTGAG	0.512																																						ENST00000399422.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999709	0.990000	1.000000																										0				21						c.(367-369)aGa>aTa		acyl-CoA synthetase medium-chain family member 4							76.0	82.0	80.0					12																	7459295		2081	4246	6327	SO:0001583	missense	341392	0	0					g.chr12:7459295G>T		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.368G>T	chr12.hg19:g.7459295G>T	ENSP00000382349:p.Arg123Ile	0						p.R123I	NM_001080454.1	NP_001073923.1	0	0	0	1.930325	P0C7M7	ACSM4_HUMAN		2	416	+			A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	1	1	hg19	c.368G>T	CCDS44825.1	1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032603	0.75504	.	.	ENSG00000215009	ENST00000399422	T	0.12465	2.68	4.89	4.0	0.46444	4.89	4.0	0.46444	AMP-dependent synthetase/ligase (1);	0.000000	0.36200	U	0.002740	T	0.41650	0.1168	M	0.90145	3.09	0.53005	D	0.999965	D	0.63880	0.993	D	0.63703	0.917	T	0.53606	-0.8415	10	0.87932	D	0	-12.2778	13.4508	0.61169	0.0:0.159:0.841:0.0	.	123	P0C7M7	ACSM4_HUMAN	I	123	ENSP00000382349:R123I	ENSP00000382349:R123I	R	+	2	0	0	ACSM4	7350562	7350562	0.947000	0.32204	0.931000	0.37212	0.884000	0.51177	5.178000	0.65037	1.216000	0.43427	-0.121000	0.15023	AGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_001080454			20	20		79	75	1		1			0	0	16	0		9.999968e-01	0	0	0	0	0	0	20	79
CD163L1	283316	broad.mit.edu	37	12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000313599.3	-	9	2285	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	743	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483																																						ENST00000313599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(2227-2229)cCt>cTt		CD163 molecule-like 1							124.0	107.0	113.0					12																	7531717		2203	4300	6503	SO:0001583	missense	283316	0	0					g.chr12:7531717G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2228C>T	chr12.hg19:g.7531717G>A	ENSP00000315945:p.Pro743Leu	0					CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L	p.P743L			0	0	0	1.930325	Q9NR16	C163B_HUMAN		9	2285	-			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	1	1	hg19	c.2228C>T	CCDS8577.1	1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060813	0.19987	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.69	-5.38	0.02673	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.187460	0.03114	U	0.162876	T	0.25382	0.0617	N	0.26042	0.785	0.09310	N	1	B;B	0.26635	0.155;0.155	B;B	0.31495	0.131;0.131	T	0.27536	-1.0071	10	0.51188	T	0.08	.	5.5718	0.17200	0.4564:0.1455:0.3982:0.0	.	753;743	E7EVK4;Q9NR16	.;C163B_HUMAN	L	743;753;743	ENSP00000315945:P743L;ENSP00000393474:P753L;ENSP00000379871:P743L	ENSP00000315945:P743L	P	-	2	0	0	CD163L1	7422984	7422984	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.428000	0.06991	-1.435000	0.01972	0.455000	0.32223	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	0		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_174941			100	98		394	389	1		1	0		0	0	102	0		1	2.705486e-01	0	0	0	5	0	100	394
CD163L1	283316	broad.mit.edu	37	12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000313599.3	-	5	1132	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	359	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)			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						GAGCAGATCACAGACACATCG	0.403																																						ENST00000313599.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				96						c.(1075-1077)Gtg>Atg		CD163 molecule-like 1							73.0	67.0	69.0					12																	7559140		2203	4300	6503	SO:0001583	missense	283316	0	0					g.chr12:7559140C>T	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.1075G>A	chr12.hg19:g.7559140C>T	ENSP00000315945:p.Val359Met	0					CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M	p.V359M			0	0	0	1.930325	Q9NR16	C163B_HUMAN		5	1132	-			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	1	1	hg19	c.1075G>A	CCDS8577.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345579	0.61073	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.56776	0.44;0.44;0.44	1.88	1.88	0.25563	1.88	1.88	0.25563	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73187	0.3555	M	0.89414	3.03	0.27534	N	0.950993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.62478	-0.6846	9	0.87932	D	0	.	9.7292	0.40350	0.0:1.0:0.0:0.0	.	369;359	E7EVK4;Q9NR16	.;C163B_HUMAN	M	359;369;359	ENSP00000315945:V359M;ENSP00000393474:V369M;ENSP00000379871:V359M	ENSP00000315945:V359M	V	-	1	0	0	CD163L1	7450407	7450407	0.905000	0.30787	0.082000	0.20525	0.798000	0.45092	1.981000	0.40628	1.333000	0.45449	0.455000	0.32223	GTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_174941			47	46		230	225	1		1			0	0	77	0		1	0	0	0	0	0	0	47	230
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	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)			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						TGCTTGCATACGACATCAGCT	0.522																																						ENST00000313599.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				96						c.(895-897)Gta>Ata		CD163 molecule-like 1							319.0	245.0	270.0					12																	7559320		2203	4300	6503	SO:0001583	missense	283316	2	121412	33				g.chr12:7559320C>T	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.895G>A	chr12.hg19:g.7559320C>T	ENSP00000315945:p.Val299Ile	0					CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I	p.V299I			0	0	0	1.930325	Q9NR16	C163B_HUMAN		5	952	-			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	1	1	hg19	c.895G>A	CCDS8577.1	1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	0	CD163L1	7450587	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_174941			71	70		406	396	1		1	0		0	0	105	0		1	1.661266e-01	0	0	0	5	0	71	406
CD163	9332	broad.mit.edu	37	12	7639264	7639264	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000432237.2_Silent_p.G763G|CD163_ENST00000396620.3_Silent_p.G796G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	763	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATGGCCTCTCCACAGCCCA	0.537																																						ENST00000359156.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2287-2289)ggA>ggT		CD163 molecule	WF10(DB05389)						159.0	158.0	158.0					12																	7639264		2203	4300	6503	SO:0001819	synonymous_variant	9332	0	0					g.chr12:7639264T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2289A>T	chr12.hg19:g.7639264T>A		0					CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.G763G	p.G763G	NM_004244.5	NP_004235.4	0	0	0	1.930325	Q86VB7	C163A_HUMAN		10	2491	-			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	1	1	hg19	c.2289A>T	CCDS8578.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	1	0	1		17	2	2	0		0	1	202		202	201	1	2.060000	-20.000000	1	0.170000	NM_004244, NM_203416			130	129		842	823	1		1	0		0	0	202	0		1	1	0	1	0	493	0	130	842
CD163	9332	broad.mit.edu	37	12	7640253	7640253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.R572R|CD163_ENST00000432237.2_Silent_p.R584R|CD163_ENST00000396620.3_Silent_p.R617R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CATTCACCAAGCGAATTTCTG	0.498																																						ENST00000359156.4	0.500000	0.170000	4.100000e-01	2.300000e-01	0.310000	0.330651	0.310000	0.310000																										0				76						c.(1750-1752)cgC>cgT		CD163 molecule	WF10(DB05389)						71.0	72.0	72.0					12																	7640253		2203	4300	6503	SO:0001819	synonymous_variant	9332	0	0					g.chr12:7640253G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1752C>T	chr12.hg19:g.7640253G>A		0					CD163_ENST00000541972.1_Silent_p.R572R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.R584R	p.R584R	NM_004244.5	NP_004235.4	0	0	0	1.930325	Q86VB7	C163A_HUMAN		8	1954	-			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	1	1	hg19	c.1752C>T	CCDS8578.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	0	0	1		2	2	2	0		0	0	93		93	90	1	2.060000	-11.931950	1	0.170000	NM_004244, NM_203416			13	13		460	453	0		1	0		0	0	93	0		9.994980e-01	9.995050e-01	0	0	0	467	0	13	460
SLC2A14	144195	broad.mit.edu	37	12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	165					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)			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)		TCTCCAATGTACATGGGCACA	0.512																																						ENST00000543909.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(493-495)Tac>Cac		solute carrier family 2 (facilitated glucose transporter), member 14							82.0	75.0	78.0					12																	7982451		2203	4300	6503	SO:0001583	missense	144195	0	0					g.chr12:7982451A>G	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.493T>C	chr12.hg19:g.7982451A>G	ENSP00000440480:p.Tyr165His	0					SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H	p.Y165H			0	0	0	1.930325	Q8TDB8	GTR14_HUMAN		10	1252	-			B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	1	1	hg19	c.493T>C	CCDS8585.1	1	.	.	.	.	.	.	.	.	.	.	a	19.36	3.812660	0.70912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.41	3.41	0.39046	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98005	4.125	0.53005	D	0.999964	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;0.999	D	0.92989	0.6413	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	180;56;142;165	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	142;165;142;165;56;56;180;142;142	ENSP00000340450:Y142H;ENSP00000440480:Y165H;ENSP00000407287:Y142H;ENSP00000379834:Y165H;ENSP00000440492:Y56H;ENSP00000443903:Y56H;ENSP00000445929:Y180H;ENSP00000440043:Y142H;ENSP00000438312:Y142H	ENSP00000340450:Y142H	Y	-	1	0	0	SLC2A14	7873718	7873718	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	TAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_153449			51	50		230	223	1		1			0	0	78	0		1	0	0	0	0	0	0	51	230
SLC2A14	144195	broad.mit.edu	37	12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	39					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)			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)		GTAGCAACTGTGATGGCAAAG	0.453											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1	0.770000	0.260000	6.300000e-01	3.600000e-01	0.480000	0.502002	0.480000	0.470000																										0				38						c.(115-117)Aca>Gca		solute carrier family 2 (facilitated glucose transporter), member 14							101.0	93.0	96.0					12																	7985383		2203	4300	6503	SO:0001583	missense	144195	0	0					g.chr12:7985383T>C	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.115A>G	chr12.hg19:g.7985383T>C	ENSP00000440480:p.Thr39Ala	0		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_5'UTR	p.T39A			0	0	0	1.930325	Q8TDB8	GTR14_HUMAN		8	874	-			B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	1	1	hg19	c.115A>G	CCDS8585.1	0	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076820	0.20227	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	2.45	-4.91	0.03085	2.45	-4.91	0.03085	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714646	0.13364	N	0.393459	T	0.42607	0.1210	N	0.05592	-0.015	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.37009	-0.9724	10	0.11182	T	0.66	.	4.7116	0.12875	0.6321:0.1178:0.0:0.2501	.	54;16;39	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	A	16;39;16;39;54;16;16;16;39;39;16;16;16	ENSP00000340450:T16A;ENSP00000440480:T39A;ENSP00000407287:T16A;ENSP00000379834:T39A;ENSP00000445929:T54A;ENSP00000440043:T16A;ENSP00000438312:T16A;ENSP00000443217:T16A;ENSP00000440044:T39A;ENSP00000437653:T39A;ENSP00000442402:T16A;ENSP00000443076:T16A	ENSP00000340450:T16A	T	-	1	0	0	SLC2A14	7876650	7876650	0.000000	0.05858	0.003000	0.11579	0.894000	0.52154	-0.909000	0.04058	-1.551000	0.01706	-0.879000	0.02964	ACA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-4.167492	1	0.170000	NM_153449			12	10		274	268	0		1			0	0	89	0		9.990132e-01	0	0	0	0	0	0	12	274
SLC2A3	6515	broad.mit.edu	37	12	8083913	8083913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(436-438)tcG>tcA		solute carrier family 2 (facilitated glucose transporter), member 3							90.0	84.0	86.0					12																	8083913		2203	4300	6503	SO:0001819	synonymous_variant	6515	1	121412	32				g.chr12:8083913C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.438G>A	chr12.hg19:g.8083913C>T		0						p.S146S	NM_006931.2	NP_008862.1	0	0	0	1.930325	P11169	GTR3_HUMAN		4	678	-			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	1	1	hg19	c.438G>A	CCDS8586.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	1	0	0		2	2	2	0		0	0	93		93	96	1	2.060000	-20.000000	1	0.170000	NM_006931			57	55		308	301	1		1	0		0	0	93	0		1	9.999997e-01	0	0	0	122	0	57	308
FOXJ2	55810	broad.mit.edu	37	12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	527					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522																																						ENST00000162391.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1579-1581)gGc>gAc		forkhead box J2							127.0	117.0	120.0					12																	8203160		2203	4300	6503	SO:0001583	missense	55810	0	0					g.chr12:8203160G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1580G>A	chr12.hg19:g.8203160G>A	ENSP00000162391:p.Gly527Asp	0					FOXJ2_ENST00000539192.1_3'UTR	p.G527D	NM_018416.2	NP_060886.1	0	0	0	1.930325	Q9P0K8	FOXJ2_HUMAN		10	2725	+			A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	1	1	hg19	c.1580G>A	CCDS8587.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358698	0.82243	.	.	ENSG00000065970	ENST00000162391	D	0.94457	-3.43	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.799837	0.11621	N	0.545746	D	0.96009	0.8700	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93264	0.6646	10	0.34782	T	0.22	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	527	Q9P0K8	FOXJ2_HUMAN	D	527	ENSP00000162391:G527D	ENSP00000162391:G527D	G	+	2	0	0	FOXJ2	8094427	8094427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.655000	0.90218	0.655000	0.94253	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-3.341049	1	0.170000	NM_018416			55	53		281	269	1		1	1		0	0	104	0		1	9.999900e-01	0	14	0	75	0	55	281
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					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)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478																																						ENST00000307637.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				20						c.(1321-1323)Gat>Tat		complement component 3a receptor 1							92.0	85.0	88.0					12																	8211461		2203	4300	6503	SO:0001583	missense	719	1	121412	31				g.chr12:8211461C>A	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.1321G>T	chr12.hg19:g.8211461C>A	ENSP00000302079:p.Asp441Tyr	0						p.D441Y	NM_004054.2	NP_004045.1	0	0	0	1.930325	Q16581	C3AR_HUMAN		2	1524	-			O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	1	1	hg19	c.1321G>T	CCDS8588.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525039	0.85600	.	.	ENSG00000171860	ENST00000307637	T	0.40476	1.03	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.66973	0.2844	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.69307	0.963	T	0.71567	-0.4554	10	0.87932	D	0	.	16.4145	0.83729	0.0:1.0:0.0:0.0	.	441	Q16581	C3AR_HUMAN	Y	441	ENSP00000302079:D441Y	ENSP00000302079:D441Y	D	-	1	0	0	C3AR1	8102728	8102728	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.746000	0.94184	0.655000	0.94253	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				62	60		377	366	1		1	0		0	0	93	0		1	1	0	0	0	237	0	62	377
C3AR1	719	broad.mit.edu	37	12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	258					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)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433																																						ENST00000307637.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				20						c.(772-774)gTa>gCa		complement component 3a receptor 1							63.0	66.0	65.0					12																	8212009		2203	4300	6503	SO:0001583	missense	719	0	0					g.chr12:8212009A>G	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.773T>C	chr12.hg19:g.8212009A>G	ENSP00000302079:p.Val258Ala	0						p.V258A	NM_004054.2	NP_004045.1	0	0	0	1.930325	Q16581	C3AR_HUMAN		2	976	-			O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	1	1	hg19	c.773T>C	CCDS8588.1	1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.489924	0.04322	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	3.99	-1.59	0.08453	3.99	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	2.097880	0.02844	N	0.128232	T	0.55497	0.1924	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.45234	-0.9275	10	0.72032	D	0.01	.	4.1551	0.10256	0.399:0.3827:0.2183:0.0	.	258	Q16581	C3AR_HUMAN	A	258	ENSP00000302079:V258A	ENSP00000302079:V258A	V	-	2	0	0	C3AR1	8103276	8103276	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.092000	0.30927	-0.370000	0.08016	-0.250000	0.11733	GTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				50	46		311	302	1		1	0		0	0	68	0		1	1	0	0	0	183	0	50	311
CLEC4A	50856	broad.mit.edu	37	12	8290773	8290773	+	Missense_Mutation	SNP	C	C	T	rs142973159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	ENST00000229332.5	+	6	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCCCAATGAGCGCTGCGTTGT	0.438													c|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					ENST00000229332.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(604-606)Cgc>Tgc		C-type lectin domain family 4, member A							130.0	112.0	118.0					12																	8290773		2203	4300	6503	SO:0001583	missense	50856	6	121412	37				g.chr12:8290773C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.604C>T	chr12.hg19:g.8290773C>T	ENSP00000229332:p.Arg202Cys	0					CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C	p.R202C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	0	0	0	1.930325	Q9UMR7	CLC4A_HUMAN		6	851	+			Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	0	1	hg19	c.604C>T	CCDS8590.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.66	2.302802	0.40795	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	3.98	-0.149	0.13420	3.98	-0.149	0.13420	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.30541	0.0768	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.931;0.931;0.931;0.959	T	0.15636	-1.0430	10	0.72032	D	0.01	.	4.1835	0.10387	0.0:0.5267:0.1701:0.3032	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	C	202;130;169;163	ENSP00000229332:R202C;ENSP00000344646:R130C;ENSP00000247243:R169C;ENSP00000353690:R163C	ENSP00000229332:R202C	R	+	1	0	0	CLEC4A	8182040	8182040	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.311000	0.08124	-0.030000	0.13804	0.585000	0.79938	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_194450			49	48		245	241	0		1	0		0	0	75	0		1	9.891784e-01	0	0	0	38	0	49	245
CLEC4E	26253	broad.mit.edu	37	12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000299663.3	-	3	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	61					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348																																						ENST00000299663.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(181-183)gAg>gCg		C-type lectin domain family 4, member E							134.0	138.0	137.0					12																	8691851		2203	4300	6503	SO:0001583	missense	26253	0	0					g.chr12:8691851T>G	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.182A>C	chr12.hg19:g.8691851T>G	ENSP00000299663:p.Glu61Ala	0					CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A|CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A	p.E61A	NM_014358.2	NP_055173.1	0	0	0	1.930325	Q9ULY5	CLC4E_HUMAN		3	347	-	Lung SC(5;0.184)		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	1	1	hg19	c.182A>C	CCDS8594.1	1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942145	0.34283	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38560	2.34;1.13	3.92	0.128	0.14733	3.92	0.128	0.14733	C-type lectin-like (1);	0.754446	0.11791	N	0.529157	T	0.32645	0.0836	L	0.55481	1.735	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.22208	-1.0223	10	0.29301	T	0.29	.	6.2796	0.20999	0.0:0.3235:0.0:0.6765	.	61	Q9ULY5	CLC4E_HUMAN	A	61	ENSP00000299663:E61A;ENSP00000443034:E61A	ENSP00000299663:E61A	E	-	2	0	0	CLEC4E	8583118	8583118	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	0.022000	0.15160	-0.250000	0.11733	GAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_014358			111	110		438	431	1		1	0		0	0	125	0		1	9.999996e-01	0	0	0	84	0	111	438
RIMKLB	57494	broad.mit.edu	37	12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000538135.1	+	6	1866	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	347					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)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587																																						ENST00000538135.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1039-1041)agT>agG		ribosomal modification protein rimK-like family member B							89.0	88.0	88.0					12																	8926260		1952	4140	6092	SO:0001583	missense	57494	0	0					g.chr12:8926260T>G	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.1041T>G	chr12.hg19:g.8926260T>G	ENSP00000440943:p.Ser347Arg	0					RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron	p.S347R			0	0	0	1.930325	Q9ULI2	RIMKB_HUMAN		6	1866	+			B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	1	1	hg19	c.1041T>G	CCDS41748.1	1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954709	0.34471	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	3.05	0.35203	5.72	3.05	0.35203	.	0.052881	0.85682	U	0.000000	T	0.26629	0.0651	N	0.24115	0.695	0.46954	D	0.999268	P	0.50943	0.94	B	0.38655	0.278	T	0.02533	-1.1145	8	.	.	.	.	6.479	0.22053	0.0:0.3151:0.0:0.6849	.	347	Q9ULI2	RIMKB_HUMAN	R	347	.	.	S	+	3	2	2	RIMKLB	8817527	8817527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.199000	0.32235	0.996000	0.38943	0.482000	0.46254	AGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	1	0	0		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_020734			127	125		550	543	1		1	1		0	0	147	0		1	9.999963e-01	0	22	0	56	0	127	550
RIMKLB	57494	broad.mit.edu	37	12	8926329	8926329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000538135.1	+	6	1935	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000357529.3_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	370					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)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493																																						ENST00000538135.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1108-1110)ctG>ctA		ribosomal modification protein rimK-like family member B							79.0	78.0	79.0					12																	8926329		1892	4109	6001	SO:0001819	synonymous_variant	57494	0	0					g.chr12:8926329G>A	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.1110G>A	chr12.hg19:g.8926329G>A		0					RIMKLB_ENST00000357529.3_Silent_p.L370L|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron	p.L370L			0	0	0	1.930325	Q9ULI2	RIMKB_HUMAN		6	1935	+			B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	1	1	hg19	c.1110G>A	CCDS41748.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	1	0	0		2	2	2	0		0	0	138		138	137	1	2.060000	-20.000000	1	0.170000	NM_020734			125	123		530	525	1		1	1		0	0	138	0		1	9.999983e-01	0	33	0	48	0	125	530
A2ML1	144568	broad.mit.edu	37	12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	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											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						CATTGCAGAAGAACTTCCGTG	0.483																																						ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(55-57)Gaa>Taa		alpha-2-macroglobulin-like 1							110.0	107.0	108.0					12																	8975302		1912	4128	6040	SO:0001587	stop_gained	144568	0	0					g.chr12:8975302G>T	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.55G>T	chr12.hg19:g.8975302G>T	ENSP00000299698:p.Glu19*	0					A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	p.E19*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				1	235	+				Nonsense_Mutation	SNP	ENST00000299698.7	0	1	hg19	c.55G>T	CCDS8596.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.347612	0.97494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	.	.	.	4.09	-0.855	0.10700	4.09	-0.855	0.10700	.	2.920560	0.01169	N	0.006836	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.3015	0.04163	0.1589:0.4917:0.1829:0.1665	.	.	.	.	X	19	.	ENSP00000299698:E19X	E	+	1	0	0	A2ML1	8866569	8866569	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	-0.003000	0.12901	-0.166000	0.10890	0.655000	0.94253	GAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_144670			80	80		320	317	1		1	0		0	0	83	0		1	0	0	1	0	0	0	80	320
A2ML1	144568	broad.mit.edu	37	12	9002321	9002321	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						TAGATTGCAGTCACAGATCTC	0.473																																						ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2083-2085)agT>agC		alpha-2-macroglobulin-like 1							118.0	112.0	114.0					12																	9002321		1895	4134	6029	SO:0001819	synonymous_variant	144568	0	0					g.chr12:9002321T>C	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.2085T>C	chr12.hg19:g.9002321T>C		0					A2ML1_ENST00000539547.1_Silent_p.S204S	p.S695S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				17	2265	+				Silent	SNP	ENST00000299698.7	1	1	hg19	c.2085T>C	CCDS8596.2	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_144670			60	60		298	289	1		1			0	0	77	0		1	0	0	0	0	0	0	60	298
A2ML1	144568	broad.mit.edu	37	12	9004397	9004397	+	Missense_Mutation	SNP	C	C	T	rs61741216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9004397C>T	ENST00000299698.7	+	19	2432	c.2252C>T	c.(2251-2253)gCg>gTg	p.A751V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A260V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						GGGAAGGAGGCGGTCCACGTC	0.532													C|||	45	0.00898562	0.0303	0.0072	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999156	0.990000	1.000000																										0				80						c.(2251-2253)gCg>gTg		alpha-2-macroglobulin-like 1		C	VAL/ALA	119,4019		3,113,1953	69.0	70.0	69.0		2252	3.3	0.9	12	dbSNP_129	69	1,8405		0,1,4202	yes	missense	A2ML1	NM_144670.3	64	3,114,6155	TT,TC,CC		0.0119,2.8758,0.9566	benign	751/1455	9004397	120,12424	2069	4203	6272	SO:0001583	missense	144568	329	120988	55				g.chr12:9004397C>T	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.2252C>T	chr12.hg19:g.9004397C>T	ENSP00000299698:p.Ala751Val	0					A2ML1_ENST00000539547.1_Missense_Mutation_p.A260V	p.A751V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				19	2432	+				Missense_Mutation	SNP	ENST00000299698.7	1	0	hg19	c.2252C>T	CCDS8596.2	1	11	0.005036630036630037	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	0	0.0	C	8.032	0.761893	0.15914	0.028758	1.19E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.25912	1.77;1.77;1.77	3.32	3.32	0.38043	3.32	3.32	0.38043	Alpha-2-macroglobulin (1);	0.303473	0.23342	N	0.049222	T	0.02727	0.0082	N	0.01188	-0.97	0.22468	N	0.999074	B	0.18610	0.029	B	0.15484	0.013	T	0.18335	-1.0340	10	0.59425	D	0.04	.	9.8835	0.41247	0.2046:0.7954:0.0:0.0	rs61741216	751	A8K2U0	A2ML1_HUMAN	V	751;751;301;260	ENSP00000299698:A751V;ENSP00000443174:A301V;ENSP00000438292:A260V	ENSP00000299698:A751V	A	+	2	0	0	A2ML1	8895664	8895664	0.000000	0.05858	0.880000	0.34516	0.082000	0.17680	-0.027000	0.12371	2.167000	0.68274	0.442000	0.29010	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-4.139665	1	0.170000	NM_144670			29	28		178	171	1		1			0	0	32	0		1	0	0	0	0	0	0	29	178
A2ML1	144568	broad.mit.edu	37	12	9009783	9009783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9009783C>T	ENST00000299698.7	+	24	3052	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						CACAGCCCTGCAGAACCTGGA	0.517																																						ENST00000299698.7	0.440000	0.140000	3.600000e-01	2.000000e-01	0.270000	0.285115	0.270000	0.260000																										0				80						c.(2872-2874)Cag>Tag		alpha-2-macroglobulin-like 1							103.0	103.0	103.0					12																	9009783		1946	4145	6091	SO:0001587	stop_gained	144568	0	0					g.chr12:9009783C>T	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.2872C>T	chr12.hg19:g.9009783C>T	ENSP00000299698:p.Gln958*	0					A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	p.Q958*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				24	3052	+				Nonsense_Mutation	SNP	ENST00000299698.7	0	1	hg19	c.2872C>T	CCDS8596.2	0	.	.	.	.	.	.	.	.	.	.	C	40	8.509052	0.98841	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.54	-2.53	0.06326	3.54	-2.53	0.06326	.	0.179059	0.26112	N	0.026267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.3273	0.15913	0.4006:0.4516:0.0:0.1478	.	.	.	.	X	958;958;508;467	.	ENSP00000299698:Q958X	Q	+	1	0	0	A2ML1	8901050	8901050	0.691000	0.27709	0.699000	0.30290	0.795000	0.44927	0.099000	0.15210	-0.726000	0.04895	0.462000	0.41574	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	0	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-3.193374	1	0.170000	NM_144670			12	12		498	491	0		1	0		0	0	111	0		9.990568e-01	2.030469e-03	0	0	0	3	0	12	498
A2ML1	144568	broad.mit.edu	37	12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						AACATCCAGGATGCTCTCAAG	0.488																																						ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3181-3183)gAt>gCt		alpha-2-macroglobulin-like 1							101.0	99.0	100.0					12																	9010616		1972	4153	6125	SO:0001583	missense	144568	0	0					g.chr12:9010616A>C	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.3182A>C	chr12.hg19:g.9010616A>C	ENSP00000299698:p.Asp1061Ala	0					A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	p.D1061A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				26	3362	+				Missense_Mutation	SNP	ENST00000299698.7	1	1	hg19	c.3182A>C	CCDS8596.2	1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378609	0.24944	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.37584	1.19;1.19;1.19	3.85	-0.536	0.11876	3.85	-0.536	0.11876	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.601795	0.15417	N	0.263424	T	0.24236	0.0587	L	0.28400	0.85	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.15009	-1.0452	10	0.30854	T	0.27	.	6.1607	0.20362	0.4837:0.3779:0.0:0.1384	.	1061	A8K2U0	A2ML1_HUMAN	A	1061;1061;611;570	ENSP00000299698:D1061A;ENSP00000443174:D611A;ENSP00000438292:D570A	ENSP00000299698:D1061A	D	+	2	0	0	A2ML1	8901883	8901883	0.080000	0.21391	0.998000	0.56505	0.597000	0.36814	1.458000	0.35223	0.129000	0.18514	-0.333000	0.08304	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_144670			98	97		365	354	1		1			0	0	98	0		1	0	0	0	0	0	0	98	365
A2ML1	144568	broad.mit.edu	37	12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						ATCATCGAACGCCAGCCCTTG	0.488																																						ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3547-3549)Gcc>Acc		alpha-2-macroglobulin-like 1							76.0	74.0	75.0					12																	9016434		1914	4153	6067	SO:0001583	missense	144568	1	120848	37				g.chr12:9016434G>A	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.3547G>A	chr12.hg19:g.9016434G>A	ENSP00000299698:p.Ala1183Thr	0					A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	p.A1183T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				29	3727	+				Missense_Mutation	SNP	ENST00000299698.7	1	1	hg19	c.3547G>A	CCDS8596.2	1	.	.	.	.	.	.	.	.	.	.	G	7.875	0.729032	0.15507	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33438	1.41;1.41;1.41	4.09	2.96	0.34315	4.09	2.96	0.34315	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.733359	0.11961	N	0.512732	T	0.12646	0.0307	N	0.10664	0.02	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.34004	-0.9846	10	0.12430	T	0.62	.	3.8258	0.08853	0.2646:0.1927:0.5427:0.0	.	1183	A8K2U0	A2ML1_HUMAN	T	1183;1183;733;692	ENSP00000299698:A1183T;ENSP00000443174:A733T;ENSP00000438292:A692T	ENSP00000299698:A1183T	A	+	1	0	0	A2ML1	8907701	8907701	0.000000	0.05858	0.008000	0.14137	0.348000	0.29142	0.647000	0.24812	0.789000	0.33779	0.591000	0.81541	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	0	0	1		2	2	2	1		1	0	78		78	77	1	2.060000	-3.606529	1	0.170000	NM_144670			71	70		266	257	1		1			1	0	78	0		1	0	0	0	0	0	0	71	266
A2ML1	144568	broad.mit.edu	37	12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						GATCAACCTGGTTGTAAAATC	0.453																																						ENST00000299698.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3793-3795)Gtt>Ttt		alpha-2-macroglobulin-like 1							129.0	118.0	121.0					12																	9020513		1951	4132	6083	SO:0001583	missense	144568	0	0					g.chr12:9020513G>T	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.3793G>T	chr12.hg19:g.9020513G>T	ENSP00000299698:p.Val1265Phe	0					A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	p.V1265F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	0	0	0	1.930325				30	3973	+				Missense_Mutation	SNP	ENST00000299698.7	1	1	hg19	c.3793G>T	CCDS8596.2	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311419	0.23821	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31769	1.48;1.6;2.14	3.63	1.79	0.24919	3.63	1.79	0.24919	.	1.178110	0.06631	N	0.759227	T	0.28366	0.0701	L	0.58810	1.83	0.24162	N	0.995651	P	0.35944	0.529	B	0.32022	0.139	T	0.30416	-0.9979	10	0.66056	D	0.02	.	5.4362	0.16482	0.4473:0.0:0.5527:0.0	.	1265	A8K2U0	A2ML1_HUMAN	F	1265;1265;815;774	ENSP00000299698:V1265F;ENSP00000443174:V815F;ENSP00000438292:V774F	ENSP00000299698:V1265F	V	+	1	0	0	A2ML1	8911780	8911780	0.908000	0.30866	0.144000	0.22314	0.527000	0.34593	1.735000	0.38176	0.517000	0.28361	0.561000	0.74099	GTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.361190	1	0.170000	NM_144670			69	69		330	323	1		1	0		0	0	73	0		1	3.083088e-02	0	0	0	2	0	69	330
PHC1	1911	broad.mit.edu	37	12	9089850	9089850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000543824.1	+	14	2888	c.2556C>T	c.(2554-2556)cgC>cgT	p.R852R	PHC1_ENST00000536844.1_Silent_p.R458R|PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000433083.2_Silent_p.R807R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	852					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537																																						ENST00000543824.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				27						c.(2554-2556)cgC>cgT		polyhomeotic homolog 1 (Drosophila)							31.0	31.0	31.0					12																	9089850		2202	4286	6488	SO:0001819	synonymous_variant	1911	1	121396	24				g.chr12:9089850C>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2556C>T	chr12.hg19:g.9089850C>T		0					PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000433083.2_Silent_p.R807R|PHC1_ENST00000536844.1_Silent_p.R458R	p.R852R			0	0	0	1.930325	P78364	PHC1_HUMAN		14	2888	+			D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	0	1	hg19	c.2556C>T	CCDS8597.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	0	0	0		2	2	2	0		0	0	18		18	23	1	2.060000	-20.000000	1	0.170000	NM_004426			33	33		145	144	1		1	1		0	0	18	0		1	5.836966e-01	0	3	0	7	0	33	145
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000543824.1	+	14	2893	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_ENST00000536844.1_Missense_Mutation_p.R460H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537																																						ENST00000543824.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	27						c.(2560-2562)cGc>cAc		polyhomeotic homolog 1 (Drosophila)							27.0	27.0	27.0					12																	9089855		2202	4294	6496	SO:0001583	missense	1911	2	121400	29				g.chr12:9089855G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2561G>A	chr12.hg19:g.9089855G>A	ENSP00000440674:p.Arg854His	0					PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H	p.R854H			0	0	0	1.930325	P78364	PHC1_HUMAN		14	2893	+			D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	0	1	hg19	c.2561G>A	CCDS8597.1	1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	0	PHC1	8981122	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	1	0	0		2	2	2	0		0	0	19		19	24	1	2.060000	-20.000000	1	0.170000	NM_004426			31	31		149	148	1		1	1		0	0	19	0		1	5.384901e-01	0	3	0	7	0	31	149
A2M	2	broad.mit.edu	37	12	9225459	9225459	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	ENST00000318602.7	-	30	4072	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1255					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)			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)	GGAGAGCCACCACTGTGTCCT	0.483																																						ENST00000318602.7	1.000000	0.570000	1	7.600000e-01	0.980000	0.907381	0.980000	1.000000																										0				77						c.(3763-3765)gtG>gtT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)						41.0	40.0	40.0					12																	9225459		2053	4236	6289	SO:0001819	synonymous_variant	2	0	0					g.chr12:9225459C>A	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.3765G>T	chr12.hg19:g.9225459C>A		0						p.V1255V	NM_000014.4	NP_000005	0	0	0	1.930325	P01023	A2MG_HUMAN		30	4072	-			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	0	1	hg19	c.3765G>T	CCDS44827.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.649600	1	0.170000	NM_000014			14	13		146	144	0		1	0		0	0	24	0		9.997695e-01	1	0	1	0	2689	0	14	146
A2M	2	broad.mit.edu	37	12	9243824	9243824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	814					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)			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)	GGTAGTTTAGGACCGTGGCCT	0.463																																						ENST00000318602.7	0.590000	0.200000	4.800000e-01	2.800000e-01	0.370000	0.387864	0.370000	0.360000																										0				77						c.(2440-2442)gtC>gtA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)						108.0	108.0	108.0					12																	9243824		2203	4300	6503	SO:0001819	synonymous_variant	2	0	0					g.chr12:9243824G>T	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.2442C>A	chr12.hg19:g.9243824G>T		0						p.V814V	NM_000014.4	NP_000005	0	0	0	1.930325	P01023	A2MG_HUMAN		19	2749	-			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	1	1	hg19	c.2442C>A	CCDS44827.1	0	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118899	0.01785	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-4.8	0.03190	5.28	-4.8	0.03190	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.47094	D	0.99931	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	3.2875	0.06937	0.1842:0.4367:0.2049:0.1742	.	.	.	.	Y	62	.	.	S	-	2	0	0	A2M	9135091	9135091	0.814000	0.29104	0.001000	0.08648	0.047000	0.14425	-0.028000	0.12350	-1.604000	0.01595	-0.471000	0.05019	TCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.221883	1	0.170000	NM_000014			13	13		389	381	0		1	0		0	0	85	0		9.994871e-01	1	0	1	0	2872	0	13	389
A2M	2	broad.mit.edu	37	12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	551					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)			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)	TCCCCAATCACGTCCCCGGTA	0.428																																						ENST00000318602.7	1.000000	0.690000	1	9.900000e-01	0.990000	0.974085	0.990000	1.000000																										0				77						c.(1651-1653)Gtg>Atg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)						73.0	68.0	69.0					12																	9252027		1911	4138	6049	SO:0001583	missense	2	0	0					g.chr12:9252027C>T	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.1651G>A	chr12.hg19:g.9252027C>T	ENSP00000323929:p.Val551Met	0						p.V551M	NM_000014.4	NP_000005	0	0	0	1.930325	P01023	A2MG_HUMAN		14	1958	-			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	0	1	hg19	c.1651G>A	CCDS44827.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633547	0.29068	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.66280	-0.2	5.27	2.42	0.29668	5.27	2.42	0.29668	Alpha-2-macroglobulin, N-terminal 2 (1);	0.194485	0.35378	N	0.003256	T	0.56001	0.1956	L	0.55017	1.72	0.29656	N	0.843599	D	0.60160	0.987	P	0.49953	0.627	T	0.54430	-0.8295	10	0.36615	T	0.2	.	2.0669	0.03605	0.1381:0.4841:0.1345:0.2432	.	551	P01023	A2MG_HUMAN	M	551;566	ENSP00000323929:V551M	ENSP00000323929:V551M	V	-	1	0	0	A2M	9143294	9143294	0.012000	0.17670	0.938000	0.37757	0.322000	0.28314	-0.124000	0.10595	0.723000	0.32274	-0.136000	0.14681	GTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-13.624910	1	0.170000	NM_000014			6	6		27	27	1		1	0		0	0	13	0		9.699981e-01	1	0	0	0	2625	0	6	27
PZP	5858	broad.mit.edu	37	12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	157					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)			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						CAGTTCATTTCGAGGGCGAAA	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				102						c.(469-471)cGa>cAa		pregnancy-zone protein							89.0	77.0	81.0					12																	9354925		2203	4300	6503	SO:0001583	missense	5858	1	121412	29				g.chr12:9354925C>T	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.470G>A	chr12.hg19:g.9354925C>T	ENSP00000261336:p.Arg157Gln	0					PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	p.R157Q	NM_002864.2	NP_002855.2	0	0	0	1.930325	P20742	PZP_HUMAN		4	498	-			A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	1	1	hg19	c.470G>A	CCDS8600.1	1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562161	0.27915	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73152	-0.72;-0.72	2.44	-2.9	0.05648	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.32971	0.0847	N	0.00926	-1.1	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.0;0.004	T	0.19844	-1.0293	10	0.51188	T	0.08	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	Q	157;26	ENSP00000261336:R157Q;ENSP00000371427:R26Q	ENSP00000261336:R157Q	R	-	2	0	0	PZP	9246192	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_002864			28	26		128	125	1		1			0	0	44	0		1	0	0	0	0	0	0	28	128
CLECL1	160365	broad.mit.edu	37	12	9875328	9875328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9875328G>T	ENST00000327839.3	-	2	432	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	133	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CTTAGTTTCAGCAATCCAGTA	0.358																																						ENST00000327839.3	0.530000	0.140000	4.100000e-01	2.000000e-01	0.290000	0.316429	0.290000	0.280000																										0				9						c.(397-399)gCt>gAt		C-type lectin-like 1							130.0	117.0	121.0					12																	9875328		2203	4300	6503	SO:0001583	missense	160365	0	0					g.chr12:9875328G>T	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.398C>A	chr12.hg19:g.9875328G>T	ENSP00000331766:p.Ala133Asp	0						p.A133D	NM_172004.3	NP_742001.1	0	0	0	1.930325	Q8IZS7	CLCL1_HUMAN		2	432	-				Missense_Mutation	SNP	ENST00000327839.3	0	1	hg19	c.398C>A	CCDS8603.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610957|2.610957	0.46631|0.46631	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.17213|.	2.29|.	3.15|3.15	2.24|2.24	0.28232|0.28232	3.15|3.15	2.24|2.24	0.28232|0.28232	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.29366|0.29366	-1.0014|-1.0014	8|5	.|.	.|.	.|.	.|.	6.5714|6.5714	0.22541|0.22541	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	133|.	Q8IZS7|.	CLCL1_HUMAN|.	D|M	133|85	ENSP00000331766:A133D|.	.|.	A|L	-|-	2|1	0|2	0|2	CLECL1|CLECL1	9766595|9766595	9766595|9766595	0.002000|0.002000	0.14202|0.14202	0.008000|0.008000	0.14137|0.14137	0.240000|0.240000	0.25518|0.25518	0.847000|0.847000	0.27696|0.27696	0.608000|0.608000	0.30000|0.30000	0.596000|0.596000	0.82720|0.82720	GCT|CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-8.541604	1	0.170000	NM_172004			8	8		307	304	0		1	0		0	0	66	0		9.891893e-01	1.221145e-02	0	0	0	6	0	8	307
GRIN2B	2904	broad.mit.edu	37	12	13716563	13716563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1203					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCACTCCACGTTGGTCAGGT	0.637																																						ENST00000609686.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				143						c.(3607-3609)aaC>aaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						94.0	101.0	99.0					12																	13716563		2203	4300	6503	SO:0001819	synonymous_variant	2904	0	0					g.chr12:13716563G>A		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.3609C>T	chr12.hg19:g.13716563G>A		0						p.N1203N	NM_000834.3	NP_000825.2	1	2	3	2.002308	Q13224	NMDE2_HUMAN		13	3818	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	1	1	hg19	c.3609C>T	CCDS8662.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000				145	142		470	461	0		1			0	0	98	0		1	0	0	0	0	0	0	145	470
GRIN2B	2904	broad.mit.edu	37	12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000609686.1	-	13	2836	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	876					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCTCGATCGCCACCCCATG	0.542																																						ENST00000609686.1	1.000000	0.190000	4.300000e-01	2.500000e-01	0.320000	0.376164	0.320000	0.310000																										0				143						c.(2626-2628)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						96.0	88.0	91.0					12																	13717545		2199	4294	6493	SO:0001583	missense	2904	0	0					g.chr12:13717545G>A		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.2627C>T	chr12.hg19:g.13717545G>A	ENSP00000477455:p.Ala876Val	0						p.A876V	NM_000834.3	NP_000825.2	1	2	3	2.002308	Q13224	NMDE2_HUMAN		13	2836	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	0	1	hg19	c.2627C>T	CCDS8662.1	0	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311571	0.40895	.	.	ENSG00000150086	ENST00000279593	T	0.11495	2.77	5.3	5.3	0.74995	5.3	5.3	0.74995	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.128335	0.56097	D	0.000035	T	0.12817	0.0311	L	0.29908	0.895	0.45634	D	0.998566	P	0.51537	0.946	P	0.45406	0.479	T	0.03795	-1.1003	10	0.36615	T	0.2	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	876	Q13224	NMDE2_HUMAN	V	876	ENSP00000279593:A876V	ENSP00000279593:A876V	A	-	2	0	0	GRIN2B	13608812	13608812	1.000000	0.71417	0.975000	0.42487	0.610000	0.37248	7.068000	0.76748	2.492000	0.84095	0.563000	0.77884	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-2.467307	0	0.170000				17	16		616	611	0		1			0	0	120	0		9.999624e-01	0	0	0	0	0	0	17	616
GRIN2B	2904	broad.mit.edu	37	12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	814					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTCAATGTCCAGCTGGCTG	0.527																																						ENST00000609686.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				143						c.(2440-2442)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						120.0	111.0	114.0					12																	13720117		2203	4300	6503	SO:0001583	missense	2904	0	0					g.chr12:13720117C>T		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.2440G>A	chr12.hg19:g.13720117C>T	ENSP00000477455:p.Asp814Asn	0						p.D814N	NM_000834.3	NP_000825.2	1	2	3	2.002308	Q13224	NMDE2_HUMAN		12	2649	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	1	1	hg19	c.2440G>A	CCDS8662.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.560709	0.96527	.	.	ENSG00000150086	ENST00000279593	T	0.49720	0.77	5.43	5.43	0.79202	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67300	-0.5705	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:1.0:0.0:0.0	.	814	Q13224	NMDE2_HUMAN	N	814	ENSP00000279593:D814N	ENSP00000279593:D814N	D	-	1	0	0	GRIN2B	13611384	13611384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.554000	0.86153	0.650000	0.86243	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000				61	60		353	347	1		1			0	0	105	0		1	0	0	0	0	0	0	61	353
GRIN2B	2904	broad.mit.edu	37	12	13828724	13828724	+	Silent	SNP	C	C	T	rs201952040		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	360					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCAGTTTCGGGTGCATCT	0.373																																						ENST00000609686.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				143						c.(1078-1080)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						127.0	124.0	125.0					12																	13828724		2203	4300	6503	SO:0001819	synonymous_variant	2904	8	121402	45				g.chr12:13828724C>T		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.1080G>A	chr12.hg19:g.13828724C>T		0						p.P360P	NM_000834.3	NP_000825.2	1	2	3	2.002308	Q13224	NMDE2_HUMAN		4	1289	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	1	1	hg19	c.1080G>A	CCDS8662.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.153949	1	0.170000				66	65		343	334	1		1			0	0	101	0		1	0	0	0	0	0	0	66	343
GRIN2B	2904	broad.mit.edu	37	12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	289					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGCGGGGAGGCCATAGTCC	0.537																																						ENST00000609686.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999948	0.990000	1.000000																										0				143						c.(865-867)Ctc>Ttc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						95.0	85.0	88.0					12																	13906396		2203	4300	6503	SO:0001583	missense	2904	0	0					g.chr12:13906396G>A		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.865C>T	chr12.hg19:g.13906396G>A	ENSP00000477455:p.Leu289Phe	0						p.L289F	NM_000834.3	NP_000825.2	1	2	3	2.002308	Q13224	NMDE2_HUMAN		3	1074	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	1	1	hg19	c.865C>T	CCDS8662.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846065	0.91277	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.85299	2.745	0.80722	D	1	P	0.34780	0.468	B	0.35278	0.199	T	0.02539	-1.1144	10	0.56958	D	0.05	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	289	Q13224	NMDE2_HUMAN	F	289	ENSP00000279593:L289F	ENSP00000279593:L289F	L	-	1	0	0	GRIN2B	13797663	13797663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.461000	0.73522	2.775000	0.95449	0.655000	0.94253	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000				37	37		224	219	1		1			0	0	50	0		1	0	0	0	0	0	0	37	224
ATF7IP	55729	broad.mit.edu	37	12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000540793.1	+	12	3384	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R1085*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1077					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)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488																																						ENST00000540793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3229-3231)Cga>Tga		activating transcription factor 7 interacting protein							80.0	78.0	79.0					12																	14634068		2203	4300	6503	SO:0001587	stop_gained	55729	0	0					g.chr12:14634068C>T	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.3229C>T	chr12.hg19:g.14634068C>T	ENSP00000444589:p.Arg1077*	0					ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R1085*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*	p.R1077*			1	2	3	2.002308	Q6VMQ6	MCAF1_HUMAN		12	3384	+			F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	0	1	hg19	c.3229C>T	CCDS8663.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.375134|9.375134	0.99151|0.99151	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|.	.|.	.|.	5.43|5.43	4.49|4.49	0.54785|0.54785	5.43|5.43	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|.	0.36220|.	0.0959|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25950|.	-1.0117|.	3|.	.|0.02654	.|T	.|1	-10.9841|-10.9841	15.726|15.726	0.77761|0.77761	0.1941:0.8059:0.0:0.0|0.1941:0.8059:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|1077;1076;1076;1085;1077	.|.	.|ENSP00000261168:R1077X	A|R	+|+	2|1	0|2	0|2	ATF7IP|ATF7IP	14525335|14525335	14525335|14525335	0.725000|0.725000	0.28048|0.28048	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.798000|1.798000	0.38814|0.38814	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GCG|CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_018179			70	68		368	358	0		1	1		0	0	75	0		1	9.999183e-01	0	5	0	69	0	70	368
GUCY2C	2984	broad.mit.edu	37	12	14781607	14781607	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14781607A>T	ENST00000261170.3	-	20	2358	c.2222T>A	c.(2221-2223)aTt>aAt	p.I741N		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTAGTCTCAATTTTTTTGAA	0.348																																						ENST00000261170.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2221-2223)aTt>aAt		guanylate cyclase 2C (heat stable enterotoxin receptor)	Linaclotide(DB08890)						138.0	150.0	146.0					12																	14781607		2202	4299	6501	SO:0001583	missense	2984	0	0					g.chr12:14781607A>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2222T>A	chr12.hg19:g.14781607A>T	ENSP00000261170:p.Ile741Asn	0						p.I741N	NM_004963.3	NP_004954.2	1	2	3	2.002308	P25092	GUC2C_HUMAN		20	2358	-			B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	1	0	hg19	c.2222T>A	CCDS8664.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107079	0.77096	.	.	ENSG00000070019	ENST00000261170	D	0.85339	-1.97	4.49	4.49	0.54785	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047168	0.85682	D	0.000000	D	0.93517	0.7931	M	0.93638	3.44	0.80722	D	1	D	0.58970	0.984	D	0.65233	0.933	D	0.95088	0.8219	10	0.87932	D	0	.	14.0963	0.65023	1.0:0.0:0.0:0.0	.	741	P25092	GUC2C_HUMAN	N	741	ENSP00000261170:I741N	ENSP00000261170:I741N	I	-	2	0	0	GUCY2C	14672874	14672874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.969000	0.93411	1.797000	0.52628	0.533000	0.62120	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	0		2	2	2	0		0	0	77		77	68	1	2.060000	-20.000000	1	0.170000				107	105		472	430	1		1	1		0	0	77	0		1	7.922189e-01	0	2	0	13	0	107	472
GUCY2C	2984	broad.mit.edu	37	12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTATCTCGTCTTTTGTCATC	0.473																																						ENST00000261170.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1486-1488)aGa>aTa		guanylate cyclase 2C (heat stable enterotoxin receptor)	Linaclotide(DB08890)						322.0	253.0	277.0					12																	14805932		2203	4300	6503	SO:0001583	missense	2984	0	0					g.chr12:14805932C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1487G>T	chr12.hg19:g.14805932C>A	ENSP00000261170:p.Arg496Ile	0						p.R496I	NM_004963.3	NP_004954.2	1	2	3	2.002308	P25092	GUC2C_HUMAN		13	1623	-			B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	1	1	hg19	c.1487G>T	CCDS8664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141560	0.77775	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.18	4.29	0.51040	5.18	4.29	0.51040	Protein kinase, catalytic domain (1);	0.130033	0.64402	D	0.000001	T	0.80613	0.4656	L	0.47716	1.5	0.58432	D	0.999999	P	0.49307	0.922	P	0.50896	0.653	T	0.79485	-0.1784	10	0.38643	T	0.18	.	13.4927	0.61405	0.0:0.9232:0.0:0.0768	.	496	P25092	GUC2C_HUMAN	I	496	ENSP00000261170:R496I	ENSP00000261170:R496I	R	-	2	0	0	GUCY2C	14697199	14697199	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.709000	0.54853	1.295000	0.44724	0.655000	0.94253	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000				192	190		656	637	1		1	1		0	0	114	0		1	8.589550e-01	0	12	0	2	0	192	656
WBP11	51729	broad.mit.edu	37	12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	238					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428																																						ENST00000261167.2	1.000000	0.370000	5.600000e-01	4.200000e-01	0.480000	0.519776	0.480000	0.480000																										0				30						c.(712-714)Cct>Act		WW domain binding protein 11							197.0	208.0	204.0					12																	14947480		2203	4300	6503	SO:0001583	missense	51729	0	0					g.chr12:14947480G>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.712C>A	chr12.hg19:g.14947480G>T	ENSP00000261167:p.Pro238Thr	0						p.P238T	NM_016312.2	NP_057396.1	1	2	3	2.002308	Q9Y2W2	WBP11_HUMAN		7	945	-			Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	1	1	hg19	c.712C>A	CCDS8666.1	0	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355146	0.41700	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	4.36	4.36	0.52297	.	0.411905	0.26072	N	0.026504	T	0.62344	0.2420	L	0.40543	1.245	0.48632	D	0.999686	D	0.64830	0.994	P	0.62885	0.908	T	0.54450	-0.8292	9	0.12766	T	0.61	-6.7753	14.7645	0.69629	0.0:0.0:1.0:0.0	.	238	Q9Y2W2	WBP11_HUMAN	T	238	.	ENSP00000261167:P238T	P	-	1	0	0	WBP11	14838747	14838747	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.762000	0.55250	2.437000	0.82529	0.655000	0.94253	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	1	0	1		2	2	2	0		0	0	295		295	295	1	2.060000	-4.705537	1	0.170000	NM_016312			64	63		1511	1482	0		1	1		0	0	295	0		1	9.982749e-01	0	16	0	202	0	64	1511
ART4	420	broad.mit.edu	37	12	14995976	14995976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	24					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)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522																																						ENST00000228936.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(70-72)atC>atT		ADP-ribosyltransferase 4 (Dombrock blood group)							109.0	97.0	101.0					12																	14995976		2203	4300	6503	SO:0001819	synonymous_variant	420	0	0					g.chr12:14995976G>A	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.72C>T	chr12.hg19:g.14995976G>A		0					C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	p.I24I	NM_021071.2	NP_066549.2	1	2	3	2.002308	Q93070	NAR4_HUMAN		1	453	-			Q9BZ50|Q9BZ51|Q9HB06	Silent	SNP	ENST00000228936.4	1	1	hg19	c.72C>T	CCDS8668.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_021071			38	38		156	152	1		1	0		0	0	45	0		1	9.421005e-01	0	0	0	22	0	38	156
RERG	85004	broad.mit.edu	37	12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I|RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG-IT1_ENST00000539734.1_RNA	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	116					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473																																						ENST00000256953.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(346-348)Gtt>Att		RAS-like, estrogen-regulated, growth inhibitor							261.0	242.0	248.0					12																	15262298		2203	4300	6503	SO:0001583	missense	85004	0	0					g.chr12:15262298C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.346G>A	chr12.hg19:g.15262298C>T	ENSP00000256953:p.Val116Ile	0					RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I	p.V116I	NM_032918.2	NP_116307.1	1	2	3	2.002308	Q96A58	RERG_HUMAN		5	682	-			B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	1	1	hg19	c.346G>A	CCDS8673.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696700	0.88830	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.33	5.33	0.75918	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.056076	0.64402	D	0.000001	D	0.87398	0.6167	L	0.58669	1.825	0.80722	D	1	P;P	0.46395	0.877;0.651	P;P	0.53861	0.736;0.736	D	0.87856	0.2661	10	0.59425	D	0.04	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	97;116	B4DI02;Q96A58	.;RERG_HUMAN	I	116;116;116;97	ENSP00000256953:V116I;ENSP00000441505:V116I;ENSP00000438280:V116I;ENSP00000444485:V97I	ENSP00000256953:V116I	V	-	1	0	0	RERG	15153565	15153565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.654000	0.90174	0.655000	0.94253	GTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	1	0	1		2	2	2	0		0	0	245		245	244	1	2.060000	-20.000000	1	0.170000	NM_032918			217	213		861	846	1		1	0		0	0	245	0		1	9.999546e-01	0	0	0	58	0	217	861
RERG	85004	broad.mit.edu	37	12	15370385	15370385	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000537647.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	13					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418																																						ENST00000256953.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(37-39)ggG>ggT		RAS-like, estrogen-regulated, growth inhibitor							289.0	240.0	256.0					12																	15370385		2203	4300	6503	SO:0001819	synonymous_variant	85004	0	0					g.chr12:15370385C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.39G>T	chr12.hg19:g.15370385C>A		0					RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G	p.G13G	NM_032918.2	NP_116307.1	1	2	3	2.002308	Q96A58	RERG_HUMAN		2	375	-			B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	1	1	hg19	c.39G>T	CCDS8673.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	1	0	1		18	2	2	0		0	1	125		125	122	1	2.060000	-20.000000	1	0.170000	NM_032918			143	133		548	518	1		1	0		0	0	125	0		1	9.992891e-01	0	1	0	42	0	143	548
PTPRO	5800	broad.mit.edu	37	12	15654735	15654735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000543886.1_Silent_p.S281S|PTPRO_ENST00000348962.2_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	281	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413																																						ENST00000281171.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				74						c.(841-843)tcC>tcT		protein tyrosine phosphatase, receptor type, O							67.0	64.0	65.0					12																	15654735		2203	4300	6503	SO:0001819	synonymous_variant	5800	9	121408	38				g.chr12:15654735C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.843C>T	chr12.hg19:g.15654735C>T		0					PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	p.S281S	NM_030667.2	NP_109592.1	1	2	3	2.002308	Q16827	PTPRO_HUMAN		5	1173	+		Hepatocellular(102;0.244)	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	1	1	hg19	c.843C>T	CCDS8675.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.847146	1	0.170000				38	38		224	223	1		1	0		0	0	47	0		1	2.229846e-02	0	0	0	2	0	38	224
PTPRO	5800	broad.mit.edu	37	12	15654981	15654981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000543886.1_Silent_p.I363I|PTPRO_ENST00000348962.2_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	363	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388																																						ENST00000281171.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(1087-1089)atC>atT		protein tyrosine phosphatase, receptor type, O							69.0	69.0	69.0					12																	15654981		2203	4300	6503	SO:0001819	synonymous_variant	5800	0	0					g.chr12:15654981C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1089C>T	chr12.hg19:g.15654981C>T		0					PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	p.I363I	NM_030667.2	NP_109592.1	1	2	3	2.002308	Q16827	PTPRO_HUMAN		5	1419	+		Hepatocellular(102;0.244)	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	1	1	hg19	c.1089C>T	CCDS8675.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000				68	67		291	285	1		1	0		0	0	91	0		1	0	0	0	0	1	0	68	291
PTPRO	5800	broad.mit.edu	37	12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	rs141467284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1088	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20263	0.0		0.001	False		,,,				2504	0.0					ENST00000281171.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3262-3264)Gag>Aag		protein tyrosine phosphatase, receptor type, O							152.0	137.0	142.0					12																	15739837		2203	4300	6503	SO:0001583	missense	5800	1	121412	33				g.chr12:15739837G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3262G>A	chr12.hg19:g.15739837G>A	ENSP00000281171:p.Glu1088Lys	0					PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K	p.E1088K	NM_030667.2	NP_109592.1	1	2	3	2.002308	Q16827	PTPRO_HUMAN		24	3592	+		Hepatocellular(102;0.244)	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	1	1	hg19	c.3262G>A	CCDS8675.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.08	3.298148	0.60086	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.0	5.0	0.66597	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.52532	D	0.000075	T	0.75332	0.3835	L	0.35341	1.055	0.58432	D	0.99999	P;D;D	0.60160	0.686;0.987;0.98	B;B;B	0.38056	0.085;0.172;0.264	T	0.80999	-0.1131	10	0.72032	D	0.01	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	249;1060;1088	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1088;1060;277;249;277;249;67	ENSP00000281171:E1088K;ENSP00000343434:E1060K;ENSP00000404188:E277K;ENSP00000437571:E249K;ENSP00000393449:E277K;ENSP00000439234:E249K;ENSP00000446201:E67K	ENSP00000281171:E1088K	E	+	1	0	0	PTPRO	15631104	15631104	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	6.253000	0.72453	2.588000	0.87417	0.650000	0.86243	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-2.696088	1	0.170000				73	72		387	386	1		1	0		0	0	83	0		1	7.765192e-01	0	0	0	17	0	73	387
PTPRO	5800	broad.mit.edu	37	12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1158	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448																																						ENST00000281171.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3472-3474)gaT>gaG		protein tyrosine phosphatase, receptor type, O							196.0	176.0	183.0					12																	15742452		2203	4300	6503	SO:0001583	missense	5800	0	0					g.chr12:15742452T>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3474T>G	chr12.hg19:g.15742452T>G	ENSP00000281171:p.Asp1158Glu	0					PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E	p.D1158E	NM_030667.2	NP_109592.1	1	2	3	2.002308	Q16827	PTPRO_HUMAN		25	3804	+		Hepatocellular(102;0.244)	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	1	1	hg19	c.3474T>G	CCDS8675.1	1	.	.	.	.	.	.	.	.	.	.	T	8.168	0.791125	0.16258	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.1	-4.97	0.03029	5.1	-4.97	0.03029	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000096	T	0.59595	0.2205	N	0.13272	0.32	0.34027	D	0.653411	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56269	-0.8007	10	0.02654	T	1	.	12.0958	0.53755	0.0:0.5968:0.1148:0.2884	.	319;1130;1158	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	1158;1130;347;319;347;319	ENSP00000281171:D1158E;ENSP00000343434:D1130E;ENSP00000404188:D347E;ENSP00000437571:D319E;ENSP00000393449:D347E;ENSP00000439234:D319E	ENSP00000281171:D1158E	D	+	3	2	2	PTPRO	15633719	15633719	0.544000	0.26441	0.730000	0.30809	0.741000	0.42261	-0.283000	0.08433	-1.202000	0.02655	-0.441000	0.05720	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000				132	128		469	454	1		1	0		0	0	106	0		1	9.518861e-01	0	0	0	19	0	132	469
EPS8	2059	broad.mit.edu	37	12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000281172.5	-	14	1839	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	468					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)			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)		TTCCTGTTTGCGCTGATGTTC	0.393																																						ENST00000281172.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1402-1404)cGc>cAc		epidermal growth factor receptor pathway substrate 8							113.0	106.0	108.0					12																	15803788		2203	4300	6503	SO:0001583	missense	2059	2	121412	33				g.chr12:15803788C>T	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.1403G>A	chr12.hg19:g.15803788C>T	ENSP00000281172:p.Arg468His	0					EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H	p.R468H	NM_004447.5	NP_004438.3	1	2	3	2.002308	Q12929	EPS8_HUMAN		14	1839	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	1	1	hg19	c.1403G>A	CCDS31753.1	1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231913	0.39399	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07327	3.34;3.34;3.34;3.2;3.2	4.86	3.97	0.46021	4.86	3.97	0.46021	.	0.290153	0.34652	N	0.003785	T	0.08891	0.0220	L	0.41710	1.295	0.40309	D	0.978692	B	0.11235	0.004	B	0.06405	0.002	T	0.08617	-1.0713	10	0.54805	T	0.06	-5.4412	13.0165	0.58759	0.0:0.9215:0.0:0.0785	.	468	Q12929	EPS8_HUMAN	H	468;468;468;208;208;468	ENSP00000441867:R468H;ENSP00000281172:R468H;ENSP00000442388:R468H;ENSP00000441888:R208H;ENSP00000437806:R208H	ENSP00000281172:R468H	R	-	2	0	0	EPS8	15695055	15695055	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.162000	0.50755	1.022000	0.39626	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				82	81		487	480	1		1	1		0	0	103	0		1	1	0	92	0	320	0	82	487
EPS8	2059	broad.mit.edu	37	12	15807132	15807132	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000281172.5	-	13	1633	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second 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)			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)		GTTCATCACCATTGACAGTAT	0.418																																						ENST00000281172.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1195-1197)aaT>aaC		epidermal growth factor receptor pathway substrate 8							130.0	109.0	116.0					12																	15807132		2203	4300	6503	SO:0001819	synonymous_variant	2059	0	0					g.chr12:15807132A>G	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.1197T>C	chr12.hg19:g.15807132A>G		0					EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N	p.N399N	NM_004447.5	NP_004438.3	1	2	3	2.002308	Q12929	EPS8_HUMAN		13	1633	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	1	1	hg19	c.1197T>C	CCDS31753.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				81	80		315	307	1		1	1		0	0	81	0		1	1	0	72	0	176	0	81	315
STRAP	11171	broad.mit.edu	37	12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	157					maintenance of gastrointestinal epithelium (GO:0030277)|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 pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGAGGATAAACAGATTCTTTC	0.348																																						ENST00000419869.2	1.000000	0.250000	5.600000e-01	3.300000e-01	0.420000	0.468362	0.420000	0.410000																										0				15						c.(469-471)Cag>Tag		serine/threonine kinase receptor associated protein							111.0	123.0	119.0					12																	16047046		2203	4300	6503	SO:0001587	stop_gained	11171	0	0					g.chr12:16047046C>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.469C>T	chr12.hg19:g.16047046C>T	ENSP00000392270:p.Gln157*	0					STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	p.Q157*	NM_007178.3	NP_009109.3	1	2	3	2.002308	Q9Y3F4	STRAP_HUMAN		5	782	+		Hepatocellular(102;0.121)	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Nonsense_Mutation	SNP	ENST00000419869.2	0	1	hg19	c.469C>T	CCDS8676.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.479135	0.98309	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	.	.	.	4.18	4.18	0.49190	4.18	4.18	0.49190	.	0.054356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.3112	17.0353	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	63;170;157	.	ENSP00000025399:Q170X	Q	+	1	0	0	STRAP	15938313	15938313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.319000	0.78375	0.650000	0.86243	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.882442	1	0.170000	NM_007178			17	17		470	461	0		1	0		0	0	81	0		9.999605e-01	9.999965e-01	0	1	0	621	0	17	470
RERGL	79785	broad.mit.edu	37	12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000538724.1_Missense_Mutation_p.E136A|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_3'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	137	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443																																						ENST00000229002.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(409-411)gAa>gCa		RERG/RAS-like							104.0	95.0	98.0					12																	18234333		2203	4300	6503	SO:0001583	missense	79785	0	0					g.chr12:18234333T>G	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.410A>C	chr12.hg19:g.18234333T>G	ENSP00000229002:p.Glu137Ala	0					RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	p.E137A	NM_024730.2	NP_079006.1	1	2	3	2.002308	Q9H628	RERGL_HUMAN		6	616	-				Missense_Mutation	SNP	ENST00000229002.2	1	1	hg19	c.410A>C	CCDS8679.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576717	0.86645	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79033	-1.23;-1.23	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.052009	0.85682	D	0.000000	D	0.88808	0.6537	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.85130	0.868;0.997	D	0.90633	0.4568	10	0.72032	D	0.01	.	13.5615	0.61793	0.0:0.0:0.0:1.0	.	136;137	F5H686;Q9H628	.;RERGL_HUMAN	A	137;136	ENSP00000229002:E137A;ENSP00000437814:E136A	ENSP00000229002:E137A	E	-	2	0	0	RERGL	18125600	18125600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.905000	0.75714	2.073000	0.62155	0.456000	0.33151	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_024730			72	70		421	412	1		1	0		0	0	73	0		1	2.200228e-02	0	0	0	2	0	72	421
PIK3C2G	5288	broad.mit.edu	37	12	18544112	18544112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000266497.5	+	13	1967	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000538779.1_Silent_p.R684R|PIK3C2G_ENST00000433979.1_Silent_p.R643R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	643	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			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)				AAGAGAATAGAAGTAATCTTG	0.383																																						ENST00000266497.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.997627	0.990000	1.000000																										0				66						c.(1927-1929)agA>agG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							67.0	63.0	64.0					12																	18544112		1819	4083	5902	SO:0001819	synonymous_variant	5288	0	0					g.chr12:18544112A>G	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.1929A>G	chr12.hg19:g.18544112A>G		0					PIK3C2G_ENST00000433979.1_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R	p.R643R			1	2	3	2.002308	O75747	P3C2G_HUMAN		13	1967	+		Hepatocellular(102;0.194)	A1L3U0	Silent	SNP	ENST00000266497.5	1	1	hg19	c.1929A>G	CCDS44839.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_004570			21	21		143	143	0		1	0		0	0	36	0		9.999985e-01	2.366421e-01	0	0	0	7	0	21	143
PIK3C2G	5288	broad.mit.edu	37	12	18552635	18552635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000266497.5	+	14	2084	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000538779.1_Silent_p.F723F|PIK3C2G_ENST00000433979.1_Silent_p.F682F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	682	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			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)				TTTATCGCTTCTACTGCAATA	0.383																																						ENST00000266497.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2044-2046)ttC>ttT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							96.0	94.0	95.0					12																	18552635		1822	4082	5904	SO:0001819	synonymous_variant	5288	0	0					g.chr12:18552635C>T	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.2046C>T	chr12.hg19:g.18552635C>T		0					PIK3C2G_ENST00000433979.1_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F	p.F682F			1	2	3	2.002308	O75747	P3C2G_HUMAN		14	2084	+		Hepatocellular(102;0.194)	A1L3U0	Silent	SNP	ENST00000266497.5	1	1	hg19	c.2046C>T	CCDS44839.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.473595	1	0.170000	NM_004570			69	69		298	291	1		1	1		0	0	73	0		1	3.195101e-01	0	5	0	1	0	69	298
CAPZA3	93661	broad.mit.edu	37	12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					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)				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)				GACAAGGAAAGAGTAATTCGC	0.428																																						ENST00000317658.3	1.000000	0.330000	7.200000e-01	4.300000e-01	0.550000	0.584506	0.550000	0.540000																										0				19						c.(37-39)aGa>aTa		capping protein (actin filament) muscle Z-line, alpha 3																																				SO:0001583	missense	93661	0	0					g.chr12:18891240G>T	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.38G>T	chr12.hg19:g.18891240G>T	ENSP00000326238:p.Arg13Ile	0					PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	p.R13I	NM_033328.2	NP_201585.1	1	2	3	2.002308	Q96KX2	CAZA3_HUMAN		1	196	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	1	1	hg19	c.38G>T	CCDS8681.1	0	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093371	0.20471	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-7.43	0.01383	5.07	-7.43	0.01383	.	0.512970	0.18368	N	0.143357	T	0.54983	0.1892	M	0.68952	2.095	0.37809	D	0.92797	B	0.32425	0.371	B	0.32677	0.15	T	0.51364	-0.8715	9	0.87932	D	0	-1.1445	15.5084	0.75760	0.7512:0.0:0.2488:0.0	.	13	Q96KX2	CAZA3_HUMAN	I	13	.	ENSP00000326238:R13I	R	+	2	0	0	CAPZA3	18782507	18782507	0.000000	0.05858	0.587000	0.28692	0.476000	0.33039	-2.225000	0.01212	-1.571000	0.01663	-1.008000	0.02478	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.132862	1	0.170000	NM_033328			18	17		380	372	0		1	0		0	0	72	0		9.999793e-01	0	0	0	0	1	0	18	380
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					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)				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)				GGACCTGAAAGAAAGCTTGGA	0.398																																						ENST00000317658.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(631-633)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							66.0	67.0	67.0					12																	18891833		2203	4300	6503	SO:0001583	missense	93661	0	0					g.chr12:18891833G>A	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.631G>A	chr12.hg19:g.18891833G>A	ENSP00000326238:p.Glu211Lys	0					PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	p.E211K	NM_033328.2	NP_201585.1	1	2	3	2.002308	Q96KX2	CAZA3_HUMAN		1	789	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	1	1	hg19	c.631G>A	CCDS8681.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941575	0.73557	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.298320	0.31123	N	0.008212	T	0.67599	0.2910	M	0.62723	1.935	0.44611	D	0.997587	P	0.51449	0.945	P	0.55055	0.767	T	0.70454	-0.4867	9	0.59425	D	0.04	-22.2472	14.7091	0.69215	0.0:0.0:1.0:0.0	.	211	Q96KX2	CAZA3_HUMAN	K	211	.	ENSP00000326238:E211K	E	+	1	0	0	CAPZA3	18783100	18783100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	2.498000	0.84270	0.462000	0.41574	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_033328			52	52		182	179	1		1			0	0	60	0		1	0	0	0	0	0	0	52	182
CAPZA3	93661	broad.mit.edu	37	12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					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)				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)				GTTATCCAATGAAGCCCTGAG	0.433																																						ENST00000317658.3	1.000000	0.150000	4.800000e-01	2.200000e-01	0.320000	0.378212	0.320000	0.310000																										0				19						c.(748-750)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							49.0	52.0	51.0					12																	18891950		2203	4299	6502	SO:0001583	missense	93661	0	0					g.chr12:18891950G>A	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.748G>A	chr12.hg19:g.18891950G>A	ENSP00000326238:p.Glu250Lys	0					PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	p.E250K	NM_033328.2	NP_201585.1	1	2	3	2.002308	Q96KX2	CAZA3_HUMAN		1	906	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	0	1	hg19	c.748G>A	CCDS8681.1	0	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	0	CAPZA3	18783217	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	0	0	0		20	2	2	1		1	1	48		48	48	1	2.060000	-8.638548	1	0.170000	NM_033328			8	7		303	296	0		0			1	0	48	0		1.293680e-02	0	0	0	0	0	0	8	303
AEBP2	121536	broad.mit.edu	37	12	19615452	19615452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	ENST00000398864.3	+	2	706	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_ENST00000266508.9_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	227	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGCATAAGCAGTACTATAATG	0.343																																						ENST00000398864.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999027	0.990000	1.000000																										0				1						c.(679-681)aGt>aAt		AE binding protein 2							51.0	45.0	47.0					12																	19615452		1869	4104	5973	SO:0001583	missense	121536	0	0					g.chr12:19615452G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.680G>A	chr12.hg19:g.19615452G>A	ENSP00000381840:p.Ser227Asn	0					AEBP2_ENST00000266508.9_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N	p.S227N	NM_001114176.1	NP_001107648.1	1	2	3	2.002308	Q6ZN18	AEBP2_HUMAN		2	706	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	0	1	hg19	c.680G>A	CCDS44841.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791578	0.90367	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.92495	-3.05;-3.05;-0.45	5.55	5.55	0.83447	5.55	5.55	0.83447	.	.	.	.	.	D	0.93455	0.7912	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.93912	0.7198	9	0.66056	D	0.02	0.2426	19.6941	0.96016	0.0:0.0:1.0:0.0	.	227	Q6ZN18	AEBP2_HUMAN	N	227;161;227;11	ENSP00000381840:S227N;ENSP00000266508:S227N;ENSP00000354267:S11N	ENSP00000266508:S227N	S	+	2	0	0	AEBP2	19506719	19506719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.999840	1	0.170000	NM_153207			13	13		61	59	0		1	1		0	0	16	0		9.996389e-01	9.948017e-01	0	6	0	40	0	13	61
AEBP2	121536	broad.mit.edu	37	12	19671045	19671045	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000398864.3	+	8	1532	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000266508.9_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K|AEBP2_ENST00000360995.4_Silent_p.K286K	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	502	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAGGTTGAAGAGGTAAAAAA	0.348																																						ENST00000398864.3	1.000000	0.660000	1	9.900000e-01	0.990000	0.971536	0.990000	1.000000																										0				1						c.(1504-1506)aaG>aaA		AE binding protein 2							32.0	28.0	29.0					12																	19671045		1802	4078	5880	SO:0001819	synonymous_variant	121536	0	0					g.chr12:19671045G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1506G>A	chr12.hg19:g.19671045G>A		0					AEBP2_ENST00000266508.9_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K|AEBP2_ENST00000360995.4_Silent_p.K286K	p.K502K	NM_001114176.1	NP_001107648.1	1	2	3	2.002308	Q6ZN18	AEBP2_HUMAN		8	1532	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	0	1	hg19	c.1506G>A	CCDS44841.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-13.556580	1	0.170000	NM_153207			7	7		50	50	1		1	1		0	0	13	0		9.829487e-01	9.965628e-01	0	14	0	70	0	7	50
PDE3A	5139	broad.mit.edu	37	12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	156					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGCCGGGGTGCGCCTGCCTCT	0.697																																						ENST00000359062.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				58						c.(466-468)Cgc>Tgc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						14.0	17.0	16.0					12																	20522684		2077	4119	6196	SO:0001583	missense	5139	1	120142	33				g.chr12:20522684C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.466C>T	chr12.hg19:g.20522684C>T	ENSP00000351957:p.Arg156Cys	0					RP11-284H19.1_ENST00000535755.1_RNA	p.R156C	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.002308	Q14432	PDE3A_HUMAN		1	506	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	1	1	hg19	c.466C>T	CCDS31754.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601857	0.66445	.	.	ENSG00000172572	ENST00000359062	T	0.64085	-0.08	5.21	4.29	0.51040	5.21	4.29	0.51040	.	0.996761	0.08141	N	0.991574	T	0.48259	0.1490	N	0.19112	0.55	0.48975	D	0.999733	D	0.55385	0.971	B	0.36666	0.23	T	0.45673	-0.9245	10	0.59425	D	0.04	.	14.7641	0.69626	0.1554:0.8446:0.0:0.0	.	156	Q14432	PDE3A_HUMAN	C	156	ENSP00000351957:R156C	ENSP00000351957:R156C	R	+	1	0	0	PDE3A	20413951	20413951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	1.106000	0.41623	0.555000	0.69702	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.152308	1	0.170000				34	34		155	150	0		1	0		0	0	27	0		1	0	0	0	0	1	0	34	155
PDE3A	5139	broad.mit.edu	37	12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	317					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCCTGTATACCGAGGGAACA	0.607																																						ENST00000359062.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(949-951)Ccg>Tcg		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						26.0	25.0	26.0					12																	20523167		2201	4298	6499	SO:0001583	missense	5139	0	0					g.chr12:20523167C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.949C>T	chr12.hg19:g.20523167C>T	ENSP00000351957:p.Pro317Ser	0					RP11-284H19.1_ENST00000535755.1_RNA	p.P317S	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.002308	Q14432	PDE3A_HUMAN		1	989	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	1	1	hg19	c.949C>T	CCDS31754.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000172572	ENST00000359062	T	0.58358	0.34	4.58	4.58	0.56647	4.58	4.58	0.56647	.	1.848920	0.02208	N	0.062869	T	0.37100	0.0991	N	0.16368	0.405	0.36182	D	0.849498	B	0.24132	0.098	B	0.17979	0.02	T	0.34675	-0.9819	10	0.02654	T	1	.	11.1176	0.48270	0.0:0.914:0.0:0.086	.	317	Q14432	PDE3A_HUMAN	S	317	ENSP00000351957:P317S	ENSP00000351957:P317S	P	+	1	0	0	PDE3A	20414434	20414434	0.997000	0.39634	0.983000	0.44433	0.938000	0.57974	5.258000	0.65479	2.529000	0.85273	0.650000	0.86243	CCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				41	41		157	155	1		1	0		0	0	25	0		1	9.935079e-01	0	0	0	33	0	41	157
PDE3A	5139	broad.mit.edu	37	12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	471					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCAGGAAGCACCTTCATCC	0.512																																						ENST00000359062.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1411-1413)gCa>gTa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						105.0	90.0	95.0					12																	20769306		2203	4300	6503	SO:0001583	missense	5139	0	0					g.chr12:20769306C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1412C>T	chr12.hg19:g.20769306C>T	ENSP00000351957:p.Ala471Val	0					PDE3A_ENST00000544307.1_3'UTR	p.A471V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.002308	Q14432	PDE3A_HUMAN		4	1452	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	1	1	hg19	c.1412C>T	CCDS31754.1	1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495797	0.12762	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.26	4.3	0.51218	5.26	4.3	0.51218	.	14.108600	0.00166	N	0.000000	T	0.40595	0.1123	L	0.38838	1.175	0.09310	N	1	P	0.46064	0.872	B	0.34418	0.182	T	0.48670	-0.9015	10	0.17832	T	0.49	.	15.6368	0.76961	0.0:0.8625:0.1375:0.0	.	471	Q14432	PDE3A_HUMAN	V	471	ENSP00000351957:A471V	ENSP00000351957:A471V	A	+	2	0	0	PDE3A	20660573	20660573	0.082000	0.21442	0.990000	0.47175	0.048000	0.14542	3.375000	0.52410	2.616000	0.88540	0.655000	0.94253	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				74	74		335	330	0		1	0		0	0	63	0		1	9.888325e-01	0	0	0	34	0	74	335
PDE3A	5139	broad.mit.edu	37	12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A	rs553709588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	675					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTGCTCCCGAACCTCTTGT	0.338																																						ENST00000359062.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				58						c.(2023-2025)Gaa>Aaa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						88.0	83.0	84.0					12																	20790055		2203	4300	6503	SO:0001583	missense	5139	0	0					g.chr12:20790055G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2023G>A	chr12.hg19:g.20790055G>A	ENSP00000351957:p.Glu675Lys	0					PDE3A_ENST00000544307.1_3'UTR	p.E675K	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.002308	Q14432	PDE3A_HUMAN		9	2063	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	1	1	hg19	c.2023G>A	CCDS31754.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.063574	0.93898	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.000000	0.42964	U	0.000636	T	0.73961	0.3654	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.72805	-0.4182	10	0.39692	T	0.17	.	18.0307	0.89283	0.0:0.0:1.0:0.0	.	675	Q14432	PDE3A_HUMAN	K	675	ENSP00000351957:E675K	ENSP00000351957:E675K	E	+	1	0	0	PDE3A	20681322	20681322	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.963000	0.76055	2.487000	0.83934	0.591000	0.81541	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.034409	1	0.170000				36	35		199	197	1		1	0		0	0	44	0		1	9.443879e-01	0	0	0	29	0	36	199
PDE3A	5139	broad.mit.edu	37	12	20832995	20832995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1072	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAAAAATCTACTGCCAAATAA	0.378																																						ENST00000359062.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999505	0.990000	1.000000																										0				58						c.(3214-3216)taC>taT		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						58.0	56.0	57.0					12																	20832995		2203	4300	6503	SO:0001819	synonymous_variant	5139	0	0					g.chr12:20832995C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3216C>T	chr12.hg19:g.20832995C>T		0					PDE3A_ENST00000544307.1_3'UTR	p.Y1072Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.002308	Q14432	PDE3A_HUMAN		16	3256	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	1	1	hg19	c.3216C>T	CCDS31754.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				35	33		242	235	0		1	0		0	0	88	0		1	9.467516e-01	0	0	0	36	0	35	242
SLCO1C1	53919	broad.mit.edu	37	12	20890164	20890164	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000266509.2	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	502	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)			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)	TATCAGCTTGTCTTGCTGGTT	0.388																																						ENST00000266509.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1504-1506)tgT>tgC		solute carrier organic anion transporter family, member 1C1	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)						106.0	97.0	100.0					12																	20890164		2203	4300	6503	SO:0001819	synonymous_variant	53919	0	0					g.chr12:20890164T>C	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.1506T>C	chr12.hg19:g.20890164T>C		0					SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000540354.1_Silent_p.C453C	p.C502C	NM_017435.4	NP_059131.1	1	2	3	2.002308	Q9NYB5	SO1C1_HUMAN		11	1874	+	Esophageal squamous(101;0.149)		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	1	1	hg19	c.1506T>C	CCDS8683.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_017435			74	74		316	314	1		1			0	0	65	0		1	0	0	0	0	0	0	74	316
SLCO1B1	10599	broad.mit.edu	37	12	21294592	21294592	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	28					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)			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)	ATGGATTGAAGGTAGAATAAG	0.274																																						ENST00000256958.2	1.000000	0.600000	1	7.900000e-01	0.990000	0.923373	0.990000	1.000000																										0				70						c.(82-84)aaG>aaT		solute carrier organic anion transporter family, member 1B1	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)						62.0	63.0	63.0					12																	21294592		2203	4294	6497	SO:0001630	splice_region_variant	10599	0	0					g.chr12:21294592G>T		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.84+1G>T	chr12.hg19:g.21294592G>T		0						p.K28N	NM_006446.4	NP_006437.3	1	2	3	2.002308	Q9Y6L6	SO1B1_HUMAN		2	180	+			B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	1	0	hg19	c.84G>T	CCDS8685.1	1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825208	0.32237	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.52	3.52	0.40303	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.477998	0.22930	N	0.053920	T	0.75191	0.3816	M	0.85099	2.735	0.39922	D	0.974171	D	0.64830	0.994	D	0.70487	0.969	T	0.79855	-0.1627	10	0.87932	D	0	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	28	Q9Y6L6	SO1B1_HUMAN	N	28	ENSP00000256958:K28N	ENSP00000256958:K28N	K	+	3	2	2	SLCO1B1	21185859	21185859	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.966647	1	0.170000	NM_006446	Missense_Mutation		16	15		174	171	0		1			0	0	64	0		9.999353e-01	0	0	0	0	0	0	16	174
SLCO1B1	10599	broad.mit.edu	37	12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	418					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)			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)	TGCTGTGATGTCATTGTCCTT	0.323																																						ENST00000256958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1252-1254)Tca>Cca		solute carrier organic anion transporter family, member 1B1	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)						90.0	84.0	86.0					12																	21355541		2203	4296	6499	SO:0001583	missense	10599	0	0					g.chr12:21355541T>C		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.1252T>C	chr12.hg19:g.21355541T>C	ENSP00000256958:p.Ser418Pro	0						p.S418P	NM_006446.4	NP_006437.3	1	2	3	2.002308	Q9Y6L6	SO1B1_HUMAN		10	1348	+			B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	1	1	hg19	c.1252T>C	CCDS8685.1	1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309843	0.40895	.	.	ENSG00000134538	ENST00000256958	T	0.60040	0.22	2.96	-5.92	0.02261	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.033120	0.07725	N	0.944329	T	0.69611	0.3130	M	0.75447	2.3	0.09310	N	1	P	0.38335	0.627	P	0.62649	0.905	T	0.70568	-0.4836	10	0.59425	D	0.04	.	5.6126	0.17414	0.4594:0.0:0.3794:0.1612	.	418	Q9Y6L6	SO1B1_HUMAN	P	418	ENSP00000256958:S418P	ENSP00000256958:S418P	S	+	1	0	0	SLCO1B1	21246808	21246808	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.081000	0.03403	-1.656000	0.01495	0.254000	0.18369	TCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_006446			53	52		183	179	1		1	0		0	0	40	0		1	0	0	0	0	1	0	53	183
SLCO1A2	6579	broad.mit.edu	37	12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000307378.6	-	6	1081	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000458504.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	121					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGCCTGAAACTGAAACTGTA	0.363																																						ENST00000307378.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				48						c.(361-363)Gtt>Att		solute carrier organic anion transporter family, member 1A2	Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)						111.0	103.0	106.0					12																	21459897		2203	4300	6503	SO:0001583	missense	6579	0	0					g.chr12:21459897C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.361G>A	chr12.hg19:g.21459897C>T	ENSP00000305974:p.Val121Ile	0					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I	p.V121I	NM_134431.3	NP_602307.1	1	2	3	2.002308	P46721	SO1A2_HUMAN		6	1081	-			Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	1	1	hg19	c.361G>A	CCDS8686.1	1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086598	0.20390	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.2	-0.183	0.13284	4.2	-0.183	0.13284	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.090680	0.00357	N	0.000022	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.12837	0.006;0.004;0.008	T	0.08046	-1.0741	10	0.20046	T	0.44	.	4.7947	0.13267	0.0:0.4951:0.1738:0.3311	.	101;119;121	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	121;121;119;121;121	ENSP00000305974:V121I;ENSP00000393973:V121I;ENSP00000375088:V119I;ENSP00000416190:V121I;ENSP00000409314:V121I	ENSP00000305974:V121I	V	-	1	0	0	SLCO1A2	21351164	21351164	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	0.388000	0.20735	0.075000	0.16796	0.557000	0.71058	GTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_021094			40	40		237	230	1		1			0	0	45	0		1	0	0	0	0	0	0	40	237
SLCO1A2	6579	broad.mit.edu	37	12	21487720	21487720	+	De_novo_Start_InFrame	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21487720A>C	ENST00000452078.1	-	0	112				SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000390670.3_5'Flank|SLCO1A2_ENST00000458504.1_Intron	NM_021094.3	NP_066580.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AAGTGCTGAAAATGAACAACA	0.284																																						ENST00000452078.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999755	0.990000	1.000000																										0				48								solute carrier organic anion transporter family, member 1A2	Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)																																					6579	0	0					g.chr12:21487720A>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259		chr12.hg19:g.21487720A>C		0					SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_5'Flank		NM_021094.3	NP_066580.1	1	2	3	2.002308	P46721	SO1A2_HUMAN		0	112	-			Q9UGP7|Q9UL38	Translation_Start_Site	SNP	ENST00000452078.1	0	1	hg19		CCDS8686.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	SLCO1A2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_021094			14	14		54	53	0		1			0	0	14	0		9.998474e-01	0	0	0	0	0	0	14	54
IAPP	3375	broad.mit.edu	37	12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000240652.3	+	2	164	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000542023.1_Missense_Mutation_p.L10I	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	10					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						GCAAGTATTTCTCATTGTGCT	0.358																																						ENST00000240652.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(28-30)Ctc>Atc		islet amyloid polypeptide							148.0	138.0	141.0					12																	21526313		2203	4300	6503	SO:0001583	missense	3375	0	0					g.chr12:21526313C>A		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.28C>A	chr12.hg19:g.21526313C>A	ENSP00000240652:p.Leu10Ile	0					IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|IAPP_ENST00000542023.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron	p.L10I	NM_000415.2	NP_000406.1	1	2	3	2.002308	P10997	IAPP_HUMAN		2	164	+			Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	1	1	hg19	c.28C>A	CCDS8688.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567065	0.28003	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.81330	-1.47;-1.47;-1.48	5.77	1.83	0.25207	5.77	1.83	0.25207	.	0.321986	0.27802	N	0.017788	T	0.65228	0.2671	.	.	.	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.57533	-0.7795	9	0.48119	T	0.1	-8.54	3.3808	0.07254	0.1873:0.4984:0.0:0.3143	.	10	P10997	IAPP_HUMAN	I	10	ENSP00000437357:L10I;ENSP00000240652:L10I;ENSP00000445980:L10I	ENSP00000240652:L10I	L	+	1	0	0	IAPP	21417580	21417580	0.443000	0.25641	0.002000	0.10522	0.009000	0.06853	0.956000	0.29202	0.747000	0.32809	0.655000	0.94253	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_000415			67	67		285	284	1		1	0		0	0	73	0		1	7.758818e-01	0	0	0	14	0	67	285
PYROXD1	79912	broad.mit.edu	37	12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000240651.9	+	3	329	c.275G>T	c.(274-276)aGt>aTt	p.S92I	PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I|PYROXD1_ENST00000538582.1_Missense_Mutation_p.S21I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	92							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363																																						ENST00000240651.9	1.000000	0.920000	1	9.900000e-01	0.990000	0.995646	0.990000	1.000000																										0				18						c.(274-276)aGt>aTt		pyridine nucleotide-disulphide oxidoreductase domain 1							59.0	58.0	58.0					12																	21598390		2203	4300	6503	SO:0001583	missense	79912	0	0					g.chr12:21598390G>T	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.275G>T	chr12.hg19:g.21598390G>T	ENSP00000240651:p.Ser92Ile	0					PYROXD1_ENST00000538582.1_Missense_Mutation_p.S21I|PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I	p.S92I	NM_024854.3	NP_079130.2	1	2	3	2.002308	Q8WU10	PYRD1_HUMAN		3	329	+			A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	0	1	hg19	c.275G>T	CCDS31755.1	1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208227	0.39003	.	.	ENSG00000121350	ENST00000545178;ENST00000240651;ENST00000538582	T;T;T	0.47869	0.85;0.85;0.83	5.3	4.36	0.52297	5.3	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.168957	0.64402	D	0.000004	T	0.47619	0.1455	M	0.64567	1.98	0.52501	D	0.999955	B	0.25272	0.122	B	0.29176	0.099	T	0.43180	-0.9407	10	0.19147	T	0.46	.	17.5454	0.87859	0.0:0.1342:0.8658:0.0	.	92	Q8WU10	PYRD1_HUMAN	I	92;92;21	ENSP00000443912:S92I;ENSP00000240651:S92I;ENSP00000438505:S21I	ENSP00000240651:S92I	S	+	2	0	0	PYROXD1	21489657	21489657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.707000	0.61852	2.463000	0.83235	0.650000	0.86243	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_024854			20	20		144	142	1		1	1		0	0	19	0		9.999964e-01	9.661249e-01	0	11	0	32	0	20	144
RECQL	5965	broad.mit.edu	37	12	21624421	21624421	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	536					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)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1606-1608)acA>acG	Other identified genes with known or suspected DNA repair function	RecQ helicase-like							123.0	111.0	115.0					12																	21624421		2203	4300	6503	SO:0001819	synonymous_variant	5965	0	0					g.chr12:21624421T>C	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.1608A>G	chr12.hg19:g.21624421T>C		0					RECQL_ENST00000421138.2_Silent_p.T536T	p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	1	2	3	2.002308	P46063	RECQ1_HUMAN		13	2076	-			A8K6G2	Silent	SNP	ENST00000444129.2	1	1	hg19	c.1608A>G	CCDS31756.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-3.049287	1	0.170000	NM_002907			88	89		367	363	1		1	1		0	0	87	0		1	1	0	44	0	212	0	88	367
RECQL	5965	broad.mit.edu	37	12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	67					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)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(199-201)Gct>Act	Other identified genes with known or suspected DNA repair function	RecQ helicase-like																																				SO:0001583	missense	5965	12	121402	38				g.chr12:21644468C>T	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.199G>A	chr12.hg19:g.21644468C>T	ENSP00000416739:p.Ala67Thr	0					RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	1	2	3	2.002308	P46063	RECQ1_HUMAN		3	667	-			A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	1	1	hg19	c.199G>A	CCDS31756.1	1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475014	0.12521	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;T;T	0.76448	-1.02;-1.02;0.75;0.75;-0.05;0.94	4.45	-1.07	0.09968	4.45	-1.07	0.09968	.	0.791130	0.11811	N	0.527132	T	0.65739	0.2720	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	10	0.14252	T	0.57	-12.6805	4.7242	0.12933	0.2271:0.4814:0.0:0.2915	.	67	P46063	RECQ1_HUMAN	T	67	ENSP00000416739:A67T;ENSP00000395449:A67T;ENSP00000379400:A67T;ENSP00000318727:A67T;ENSP00000445555:A67T;ENSP00000439069:A67T	ENSP00000318727:A67T	A	-	1	0	0	RECQL	21535735	21535735	0.001000	0.12720	0.341000	0.25589	0.987000	0.75469	0.075000	0.14686	-0.086000	0.12550	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	1	0	1		2	2	2	0		0	0	41		41	38	1	2.060000	-3.572208	1	0.170000	NM_002907			44	40		174	160	1		1	1		0	0	41	0		1	1	0	27	0	144	0	44	174
GOLT1B	51026	broad.mit.edu	37	12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000229314.5	+	2	194	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	29	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274																																						ENST00000229314.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(85-87)Ttt>Gtt		golgi transport 1B							139.0	139.0	139.0					12																	21659878		2202	4296	6498	SO:0001583	missense	51026	0	0					g.chr12:21659878T>G	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.85T>G	chr12.hg19:g.21659878T>G	ENSP00000229314:p.Phe29Val	0					GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V|GOLT1B_ENST00000535593.1_Intron	p.F29V	NM_016072.4	NP_057156.1	1	2	3	2.002308	Q9Y3E0	GOT1B_HUMAN		2	194	+			B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	1	1	hg19	c.85T>G	CCDS8689.1	1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928820	0.73327	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.84433	2.695	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.72211	-0.4359	10	0.72032	D	0.01	-6.893	15.3788	0.74637	0.0:0.0:0.0:1.0	.	29	Q9Y3E0	GOT1B_HUMAN	V	29	ENSP00000437351:F29V;ENSP00000229314:F29V	ENSP00000229314:F29V	F	+	1	0	0	GOLT1B	21551145	21551145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.213000	0.71641	0.477000	0.44152	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_016072			81	80		311	305	1		1	1		0	0	50	0		1	1	0	56	0	158	0	81	311
GYS2	2998	broad.mit.edu	37	12	21690005	21690005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	665					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)			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						CGTATCTCTCATCCTCCACTT	0.483																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1993-1995)gaT>gaC		glycogen synthase 2 (liver)							197.0	137.0	158.0					12																	21690005		2203	4300	6503	SO:0001819	synonymous_variant	2998	0	0					g.chr12:21690005A>G		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.1995T>C	chr12.hg19:g.21690005A>G		0						p.D665D	NM_021957.3	NP_068776.2	1	2	3	2.002308	P54840	GYS2_HUMAN		16	2249	-			A0AVD8	Silent	SNP	ENST00000261195.2	1	1	hg19	c.1995T>C	CCDS8690.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_021957			75	73		288	284	1		1	0		0	0	65	0		1	4.380567e-02	0	0	0	2	0	75	288
LDHB	3945	broad.mit.edu	37	12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	159					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)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CTTCCAATCACGCGGTGTTTG	0.398																																						ENST00000396076.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(475-477)Gtg>Atg		lactate dehydrogenase B							108.0	98.0	101.0					12																	21795006		2203	4300	6503	SO:0001583	missense	3945	1	121412	28				g.chr12:21795006C>T		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.475G>A	chr12.hg19:g.21795006C>T	ENSP00000379386:p.Val159Met	0					LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	p.V159M	NM_001174097.1	NP_001167568.1	1	2	3	2.002308	P07195	LDHB_HUMAN		5	807	-				Missense_Mutation	SNP	ENST00000396076.1	1	1	hg19	c.475G>A	CCDS8691.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516070	0.85495	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	5.67	5.67	0.87782	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.054730	0.64402	D	0.000001	D	0.95971	0.8688	H	0.98048	4.135	0.80722	D	1	P	0.49358	0.923	P	0.47402	0.546	D	0.96827	0.9608	10	0.87932	D	0	.	13.0855	0.59138	0.0:0.9268:0.0:0.0732	.	159	P07195	LDHB_HUMAN	M	159	ENSP00000379386:V159M;ENSP00000229319:V159M;ENSP00000379385:V159M	ENSP00000229319:V159M	V	-	1	0	0	LDHB	21686273	21686273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.076000	0.71267	2.679000	0.91253	0.644000	0.83932	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_002300			81	81		349	341	1		1	1		0	0	78	0		1	1	0	14	0	772	0	81	349
KCNJ8	3764	broad.mit.edu	37	12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	88					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)			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)	CACATGATAGCGAAGAGCAGC	0.517											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240662.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(262-264)Gct>Act		potassium inwardly-rectifying channel, subfamily J, member 8	Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)						137.0	114.0	122.0					12																	21926289		2203	4300	6503	SO:0001583	missense	3764	0	0					g.chr12:21926289C>T	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.262G>A	chr12.hg19:g.21926289C>T	ENSP00000240662:p.Ala88Thr	0		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.A88T	NM_004982.3	NP_004973.1	1	2	3	2.002308	Q15842	KCNJ8_HUMAN		2	607	-			O00657	Missense_Mutation	SNP	ENST00000240662.2	1	1	hg19	c.262G>A	CCDS8692.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.153019	0.94645	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94576	-3.46;-3.46	4.44	4.44	0.53790	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98397	1.0566	10	0.87932	D	0	.	17.2713	0.87103	0.0:1.0:0.0:0.0	.	88	Q15842	IRK8_HUMAN	T	88	ENSP00000240662:A88T;ENSP00000440012:A88T	ENSP00000240662:A88T	A	-	1	0	0	KCNJ8	21817556	21817556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.303000	0.77524	0.467000	0.42956	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.323291	1	0.170000	NM_004982			78	78		414	402	1		1	0		0	0	77	0		1	9.736066e-01	0	0	0	33	0	78	414
ABCC9	10060	broad.mit.edu	37	12	21958192	21958192	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21958192A>G	ENST00000261201.4	-	38	4565	c.4566T>C	c.(4564-4566)ggT>ggC	p.G1522G	ABCC9_ENST00000345162.2_Silent_p.G1486G|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	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)			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)	CCACTAAAATACCCTCAGAAA	0.408																																						ENST00000261201.4	1.000000	0.150000	5.600000e-01	2.400000e-01	0.360000	0.417221	0.360000	0.330000																										0				118						c.(4564-4566)ggT>ggC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glyburide(DB01016)						132.0	121.0	125.0					12																	21958192		2203	4300	6503	SO:0001819	synonymous_variant	10060	0	0					g.chr12:21958192A>G	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.4566T>C	chr12.hg19:g.21958192A>G		0					ABCC9_ENST00000345162.2_Silent_p.G1486G|ABCC9_ENST00000261200.4_Intron	p.G1522G	NM_005691.2	NP_005682.2	1	2	3	2.002308	O60706	ABCC9_HUMAN		38	4565	-			O60707	Silent	SNP	ENST00000261201.4	1	1	hg19	c.4566T>C	CCDS8694.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	0	0	1		15	2	2	1		1	1	50		50	50	1	2.060000	-3.411235	1	0.170000	NM_005691			6	6		207	203	0		0			1	0	50	0		3.141696e-02	0	0	0	0	0	0	6	207
ABCC9	10060	broad.mit.edu	37	12	21998636	21998636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261201.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	ABCC9_ENST00000345162.2_Silent_p.F963F|ABCC9_ENST00000261200.4_Silent_p.F999F|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	999	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			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)	AAAGCTTAGAGAAAATCATCA	0.448																																						ENST00000261201.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				118						c.(2995-2997)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glyburide(DB01016)						141.0	119.0	127.0					12																	21998636		2203	4300	6503	SO:0001819	synonymous_variant	10060	0	0					g.chr12:21998636G>A	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.2997C>T	chr12.hg19:g.21998636G>A		0					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F963F|ABCC9_ENST00000261200.4_Silent_p.F999F	p.F999F	NM_005691.2	NP_005682.2	1	2	3	2.002308	O60706	ABCC9_HUMAN		24	2996	-			O60707	Silent	SNP	ENST00000261201.4	1	1	hg19	c.2997C>T	CCDS8694.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_005691			35	35		209	204	1		1	0		0	0	63	0		1	6.591275e-01	0	0	0	15	0	35	209
ST8SIA1	6489	broad.mit.edu	37	12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000396037.4	-	1	701	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	74					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652																																						ENST00000396037.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(220-222)Gcg>Acg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							61.0	59.0	59.0					12																	22486947		2203	4300	6503	SO:0001583	missense	6489	1	121408	25				g.chr12:22486947C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.220G>A	chr12.hg19:g.22486947C>T	ENSP00000379353:p.Ala74Thr	0					ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T	p.A74T	NM_003034.3	NP_003025.1	1	2	3	2.002308	Q92185	SIA8A_HUMAN		1	701	-			A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	1	1	hg19	c.220G>A	CCDS8697.1	1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371959	0.42003	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.66460	-0.21;-0.21	4.45	3.53	0.40419	4.45	3.53	0.40419	.	0.118546	0.56097	D	0.000031	T	0.55242	0.1908	L	0.48642	1.525	0.80722	D	1	P	0.42248	0.774	B	0.35312	0.2	T	0.59188	-0.7501	10	0.56958	D	0.05	-7.0017	11.121	0.48289	0.192:0.808:0.0:0.0	.	74	Q92185	SIA8A_HUMAN	T	74;51;74;74	ENSP00000379353:A74T;ENSP00000440292:A51T	ENSP00000261197:A74T	A	-	1	0	0	ST8SIA1	22378214	22378214	0.999000	0.42202	0.979000	0.43373	0.973000	0.67179	4.695000	0.61767	1.131000	0.42111	0.563000	0.77884	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_003034			84	82		354	350	1		1	0		0	0	78	0		1	0	0	0	0	1	0	84	354
ST8SIA1	6489	broad.mit.edu	37	12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000396037.4	-	1	530	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	17					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701																																						ENST00000396037.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(49-51)Gct>Act		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							56.0	56.0	56.0					12																	22487118		2203	4300	6503	SO:0001583	missense	6489	0	0					g.chr12:22487118C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.49G>A	chr12.hg19:g.22487118C>T	ENSP00000379353:p.Ala17Thr	0					ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T	p.A17T	NM_003034.3	NP_003025.1	1	2	3	2.002308	Q92185	SIA8A_HUMAN		1	530	-			A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	1	1	hg19	c.49G>A	CCDS8697.1	1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315728	0.60524	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.27256	1.68	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.168872	0.41097	D	0.000955	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.07501	-1.0769	10	0.87932	D	0	-12.5297	14.6168	0.68556	0.0:1.0:0.0:0.0	.	17	Q92185	SIA8A_HUMAN	T	17	ENSP00000379353:A17T	ENSP00000261197:A17T	A	-	1	0	0	ST8SIA1	22378385	22378385	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.223000	0.42936	2.397000	0.81536	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	1	0	1		2	2	2	0		0	0	73		73	69	1	2.060000	-20.000000	1	0.170000	NM_003034			108	105		416	410	0		1	0		0	0	73	0		1	0	0	0	0	1	0	108	416
SOX5	6660	broad.mit.edu	37	12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000451604.2	-	11	1465	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000546136.1_Missense_Mutation_p.A442D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	455					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)			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						CTTGGTGACAGCATCATGGTC	0.428																																						ENST00000451604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1363-1365)gCt>gAt		SRY (sex determining region Y)-box 5							165.0	142.0	150.0					12																	23716316		2203	4300	6503	SO:0001583	missense	6660	0	0					g.chr12:23716316G>T	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.1364C>A	chr12.hg19:g.23716316G>T	ENSP00000398273:p.Ala455Asp	0					SOX5_ENST00000546136.1_Missense_Mutation_p.A442D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D	p.A455D			1	2	3	2.002308	P35711	SOX5_HUMAN		11	1465	-			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	1	1	hg19	c.1364C>A	CCDS8699.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206963	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	6.03	5.14	0.70334	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;P;D	0.85130	0.931;0.856;0.997	T	0.74645	-0.3596	10	0.87932	D	0	.	15.1758	0.72910	0.0671:0.0:0.9328:0.0	.	420;455;69	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	D	442;442;455;407;420;69;445	ENSP00000437487:A442D;ENSP00000308927:A442D;ENSP00000398273:A455D;ENSP00000439832:A420D;ENSP00000379328:A69D;ENSP00000443520:A445D	ENSP00000308927:A442D	A	-	2	0	0	SOX5	23607583	23607583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	1.558000	0.49541	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_006940			113	112		497	484	1		1	0		0	0	102	0		1	1.606242e-01	0	0	0	4	0	113	497
SOX5	6660	broad.mit.edu	37	12	23893858	23893858	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000451604.2	-	5	785	c.684C>A	c.(682-684)gcC>gcA	p.A228A	SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000546136.1_Silent_p.A215A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					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)			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						CAATCTGAGAGGCAGCTAGTT	0.493																																						ENST00000451604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(682-684)gcC>gcA		SRY (sex determining region Y)-box 5							114.0	103.0	107.0					12																	23893858		2203	4300	6503	SO:0001819	synonymous_variant	6660	0	0					g.chr12:23893858G>T	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.684C>A	chr12.hg19:g.23893858G>T		0					SOX5_ENST00000546136.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000541847.1_Silent_p.A218A	p.A228A			1	2	3	2.002308	P35711	SOX5_HUMAN		5	785	-			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	1	1	hg19	c.684C>A	CCDS8699.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	1	0	1		18	2	2	0		0	1	70		70	70	1	2.060000	-3.379017	1	0.170000	NM_006940			76	76		314	305	1		1	0		0	0	70	0		1	1.761288e-01	0	0	0	4	0	76	314
SOX5	6660	broad.mit.edu	37	12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000541847.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000536850.1_5'UTR			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	6					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)			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						CTGAGGTAAATCAGGGTCAGT	0.423																																						ENST00000451604.2	1.000000	0.200000	5.800000e-01	2.900000e-01	0.410000	0.455335	0.410000	0.390000																										0				57						c.(16-18)gAt>gGt		SRY (sex determining region Y)-box 5							120.0	107.0	111.0					12																	24102519		2203	4300	6503	SO:0001583	missense	6660	0	0					g.chr12:24102519T>C	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.17A>G	chr12.hg19:g.24102519T>C	ENSP00000398273:p.Asp6Gly	0					SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G	p.D6G			1	2	3	2.002308	P35711	SOX5_HUMAN		1	118	-			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	1	1	hg19	c.17A>G	CCDS8699.1	0	.	.	.	.	.	.	.	.	.	.	t	13.30	2.197084	0.38806	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97279	-4.27;-4.32	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.193467	0.43110	D	0.000609	D	0.94142	0.8121	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.083	B;B	0.30029	0.11;0.051	D	0.92567	0.6063	10	0.56958	D	0.05	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	6;6	G3V0H1;P35711	.;SOX5_HUMAN	G	6	ENSP00000398273:D6G;ENSP00000439832:D6G	ENSP00000393240:D6G	D	-	2	0	0	SOX5	23993786	23993786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.689000	0.74562	2.125000	0.65367	0.524000	0.50904	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-11.157330	1	0.170000	NM_006940			10	10		295	290	0		1			0	0	66	0		9.967464e-01	0	0	0	0	0	0	10	295
BCAT1	586	broad.mit.edu	37	12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACCTCAGTTCCAATGAATGT	0.378																																						ENST00000261192.7	1.000000	0.490000	1	6.700000e-01	0.900000	0.860908	0.900000	1.000000																										0				7						c.(502-504)gGa>gAa		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)						75.0	74.0	74.0					12																	25031471		1941	4147	6088	SO:0001583	missense	586	0	0					g.chr12:25031471C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.503G>A	chr12.hg19:g.25031471C>T	ENSP00000261192:p.Gly168Glu	0					BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000544418.1_5'UTR	p.G168E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	1	2	3	2.002308	P54687	BCAT1_HUMAN		5	1029	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	1	1	hg19	c.503G>A	CCDS44845.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156952	0.78114	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.78595	1.92;1.92;1.92;1.92;1.92;-1.19	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.055262	0.64402	D	0.000001	D	0.92941	0.7754	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.79784	0.982;0.988;0.982;0.993;0.988	D	0.94436	0.7654	10	0.87932	D	0	0.7255	19.6509	0.95805	0.0:1.0:0.0:0.0	.	131;180;107;168;167	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	168;167;107;180;131;144	ENSP00000261192:G168E;ENSP00000440817:G167E;ENSP00000339805:G107E;ENSP00000443459:G180E;ENSP00000440827:G131E;ENSP00000438593:G144E	ENSP00000261192:G168E	G	-	2	0	0	BCAT1	24922738	24922738	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	6.234000	0.72326	2.941000	0.99782	0.655000	0.94253	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-16.569050	1	0.170000	NM_005504			12	12		150	150	0		1	0		0	0	25	0		9.992318e-01	9.712848e-01	0	0	0	78	0	12	150
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000548766.1_Silent_p.R14R|LRMP_ENST00000547044.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		19765	0.003		0.0	False		,,,				2504	0.0					ENST00000354454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(40-42)cgC>cgT		lymphoid-restricted membrane protein		C	,,	1,4405	2.1+/-5.4	0,1,2202	288.0	260.0	270.0		42,42,42	0.8	0.0	12	dbSNP_132	270	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	14/500,14/500,14/500	25232195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4033	40	121412	49				g.chr12:25232195C>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.42C>T	chr12.hg19:g.25232195C>T		0					LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	p.R14R	NM_006152.3	NP_006143.2	1	2	3	2.002308	Q12912	LRMP_HUMAN		6	871	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		A0AVM2|B4E077|Q8N301	Silent	SNP	ENST00000354454.3	1	1	hg19	c.42C>T	CCDS8701.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_006152			115	111		615	593	1		1	1		0	0	125	0		1	9.201481e-01	0	2	0	23	0	115	615
LRMP	4033	broad.mit.edu	37	12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000548766.1_Missense_Mutation_p.E68D|LRMP_ENST00000547044.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	124					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403																																						ENST00000354454.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(202-204)gaG>gaT		lymphoid-restricted membrane protein							108.0	105.0	106.0					12																	25232657		2203	4300	6503	SO:0001583	missense	4033	0	0					g.chr12:25232657G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.204G>T	chr12.hg19:g.25232657G>T	ENSP00000346442:p.Glu68Asp	0					LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	p.E68D	NM_006152.3	NP_006143.2	1	2	3	2.002308	Q12912	LRMP_HUMAN		8	1033	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	1	1	hg19	c.204G>T	CCDS8701.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625834	0.46840	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000536173;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	4.61	-0.682	0.11339	4.61	-0.682	0.11339	.	0.705422	0.12924	N	0.427953	T	0.14527	0.0351	M	0.63428	1.95	0.09310	N	1	P	0.38711	0.643	B	0.37833	0.259	T	0.15809	-1.0424	10	0.30078	T	0.28	-2.9977	4.2181	0.10544	0.3862:0.1666:0.4471:0.0	.	124	Q12912	LRMP_HUMAN	D	68;68;68;15;68;68;68	ENSP00000448534:E68D;ENSP00000452116:E68D;ENSP00000346442:E68D;ENSP00000444056:E15D;ENSP00000446496:E68D;ENSP00000450634:E68D;ENSP00000450246:E68D	ENSP00000346442:E68D	E	+	3	2	2	LRMP	25123924	25123924	0.069000	0.21087	0.030000	0.17652	0.010000	0.07245	0.231000	0.17872	0.035000	0.15519	-0.827000	0.03088	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-2.847766	1	0.170000	NM_006152			48	48		270	266	1		1	1		0	0	62	0		1	9.339517e-01	0	2	0	26	0	48	270
CASC1	55259	broad.mit.edu	37	12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000320267.9	-	14	1913	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	CASC1_ENST00000354189.5_Missense_Mutation_p.S675N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	611										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)			GTTCCACTTGCTCCAACCAAA	0.348																																						ENST00000320267.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1831-1833)aGc>aAc		cancer susceptibility candidate 1							101.0	106.0	104.0					12																	25263104		2203	4300	6503	SO:0001583	missense	55259	0	0					g.chr12:25263104C>T	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.1832G>A	chr12.hg19:g.25263104C>T	ENSP00000313141:p.Ser611Asn	0					CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000354189.5_Missense_Mutation_p.S675N	p.S611N	NM_001082973.1	NP_001076442	1	2	3	2.002308	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)	14	1913	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	1	1	hg19	c.1832G>A	CCDS41762.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418820	0.83559	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	T;T;T;T;T	0.80566	-1.39;-0.45;-0.45;-0.99;-0.95	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.998	D	0.90453	0.4440	10	0.72032	D	0.01	-16.7377	17.6995	0.88290	0.0:1.0:0.0:0.0	.	499;552;675;611;617	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	N	675;617;611;571;499;552;421	ENSP00000346126:S675N;ENSP00000379310:S617N;ENSP00000313141:S611N;ENSP00000379313:S571N;ENSP00000437373:S552N	ENSP00000313141:S611N	S	-	2	0	0	CASC1	25154371	25154371	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.739000	0.68622	2.540000	0.85666	0.655000	0.94253	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_018272			53	51		232	229	1		1	0		0	0	66	0		1	0	0	0	0	1	0	53	232
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.991831	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.002308	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-8.892211	1	0.170000	NM_033360			13	12		89	85	0		1	1	1	0	0	17	418		9.995158e-01	9.775702e-01	1	14	76	33	450	13	89
LMNTD1	160492	broad.mit.edu	37	12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000282881.6	-	3	522	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000539744.1_Missense_Mutation_p.K28E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		125					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358																																						ENST00000282881.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(373-375)Aaa>Gaa									90.0	88.0	89.0					12																	25699363		2203	4299	6502	SO:0001583	missense	0	0	0					g.chr12:25699363T>C																												ENST00000282881.6:c.373A>G	chr12.hg19:g.25699363T>C	ENSP00000282881:p.Lys125Glu	0					IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000539744.1_Missense_Mutation_p.K28E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	p.K125E	NM_152590.3	NP_689803.2	1	2	3	2.002308	Q8N9Z9	LMTD1_HUMAN		3	522	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	1	1	hg19	c.373A>G	CCDS8704.1	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783311	0.31593	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.15718	2.61;2.66;2.61;2.63;2.4	4.9	2.19	0.27852	4.9	2.19	0.27852	.	.	.	.	.	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.42941	0.458;0.794;0.793;0.689	B;B;B;B	0.42738	0.194;0.194;0.396;0.223	T	0.20505	-1.0273	9	0.25106	T	0.35	-14.7294	6.9359	0.24466	0.0:0.1707:0.0:0.8293	.	62;146;146;125	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	125;28;146;62;146;100;100	ENSP00000282881:K125E;ENSP00000443132:K28E;ENSP00000407353:K146E;ENSP00000407043:K62E;ENSP00000393150:K146E	ENSP00000282881:K125E	K	-	1	0	0	IFLTD1	25590630	25590630	0.014000	0.17966	0.018000	0.16275	0.004000	0.04260	1.174000	0.31932	0.326000	0.23384	0.533000	0.62120	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				61	61		237	234	1		1			0	0	62	0		1	0	0	0	0	0	0	61	237
LMNTD1	160492	broad.mit.edu	37	12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		63					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388																																						ENST00000282881.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				22						c.(187-189)Act>Cct									71.0	63.0	66.0					12																	25702320		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr12:25702320T>G																												ENST00000282881.6:c.187A>C	chr12.hg19:g.25702320T>G	ENSP00000282881:p.Thr63Pro	0					IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	p.T63P	NM_152590.3	NP_689803.2	1	2	3	2.002308	Q8N9Z9	LMTD1_HUMAN		2	336	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	1	1	hg19	c.187A>C	CCDS8704.1	1	.	.	.	.	.	.	.	.	.	.	T	8.138	0.784586	0.16189	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.14640	2.7;2.71;2.49	3.7	-3.36	0.04913	3.7	-3.36	0.04913	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34161	0.439;0.439;0.312	B;B;B	0.32762	0.152;0.152;0.072	T	0.32587	-0.9901	9	0.40728	T	0.16	-4.1793	4.3876	0.11325	0.17:0.4187:0.0:0.4113	.	84;84;63	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	P	63;84;84;38;38;38	ENSP00000282881:T63P;ENSP00000407353:T84P;ENSP00000393150:T84P	ENSP00000282881:T63P	T	-	1	0	0	IFLTD1	25593587	25593587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.468000	0.02350	-0.697000	0.05092	0.528000	0.53228	ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-18.247650	1	0.170000				31	31		151	149	1		1			0	0	65	0		1	0	0	0	0	0	0	31	151
RASSF8	11228	broad.mit.edu	37	12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	87					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473																																						ENST00000405154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(259-261)Cga>Tga		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							107.0	106.0	106.0					12																	26217586		2203	4300	6503	SO:0001587	stop_gained	11228	0	0					g.chr12:26217586C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.259C>T	chr12.hg19:g.26217586C>T	ENSP00000384491:p.Arg87*	0					RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*	p.R87*	NM_001164748.1	NP_001158220.1	1	2	3	2.002308	Q8NHQ8	RASF8_HUMAN		3	458	+	Colorectal(261;0.0847)		A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP	ENST00000405154.2	0	1	hg19	c.259C>T	CCDS53765.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687605	0.68157	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	.	.	.	5.19	3.23	0.37069	5.19	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1902	12.9569	0.58432	0.4002:0.5998:0.0:0.0	.	.	.	.	X	87	.	ENSP00000282884:R87X	R	+	1	2	2	RASSF8	26108853	26108853	0.999000	0.42202	0.998000	0.56505	0.500000	0.33767	0.663000	0.25053	1.319000	0.45190	0.591000	0.81541	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	1	0	1		2	2	2	0		0	0	137		137	132	1	2.060000	-20.000000	1	0.170000	NM_007211			140	135		505	493	1		1	1		0	0	137	0		1	9.999962e-01	0	5	0	61	0	140	505
SSPN	8082	broad.mit.edu	37	12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000540266.1_Intron|SSPN_ENST00000422622.2_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	71					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)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GACCGTGGTGGGCTTCCTCAT	0.642																																						ENST00000242729.2	1.000000	0.650000	1	9.800000e-01	0.990000	0.969642	0.990000	1.000000																										0				10						c.(211-213)Ggc>Agc		sarcospan							43.0	23.0	30.0					12																	26348816		2147	4256	6403	SO:0001583	missense	8082	0	0					g.chr12:26348816G>A	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.211G>A	chr12.hg19:g.26348816G>A	ENSP00000242729:p.Gly71Ser	0					SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000422622.2_Intron|SSPN_ENST00000540266.1_Intron	p.G71S	NM_005086.4	NP_005077.2	1	2	3	2.002308	Q14714	SSPN_HUMAN		1	388	+	Colorectal(261;0.0847)		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	0	1	hg19	c.211G>A	CCDS8707.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138322	0.77775	.	.	ENSG00000123096	ENST00000242729;ENST00000441067;ENST00000535504	T;T	0.04454	3.62;3.62	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.060238	0.64402	D	0.000002	T	0.05044	0.0135	N	0.15975	0.35	0.43761	D	0.996276	P;P;P	0.51537	0.946;0.889;0.896	P;P;P	0.50314	0.637;0.526;0.548	T	0.52931	-0.8509	10	0.35671	T	0.21	-16.8356	9.7617	0.40537	0.0945:0.0:0.9055:0.0	.	71;71;71	F5H0K2;A1YBP2;Q14714	.;.;SSPN_HUMAN	S	71;45;71	ENSP00000242729:G71S;ENSP00000438801:G71S	ENSP00000242729:G71S	G	+	1	0	0	SSPN	26240083	26240083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.321000	0.78463	0.655000	0.94253	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-14.038000	1	0.170000	NM_005086			7	7		51	51	1		1	1		0	0	12	0		9.829058e-01	8.934318e-01	0	2	0	30	0	7	51
ITPR2	3709	broad.mit.edu	37	12	26636792	26636792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26636792G>T	ENST00000381340.3	-	42	6267	c.5851C>A	c.(5851-5853)Cta>Ata	p.L1951I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1951					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)		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)	TCACAGACTAGGTTGTAATTT	0.408																																						ENST00000381340.3	1.000000	0.110000	3.000000e-01	1.500000e-01	0.210000	0.269067	0.210000	0.210000																									ETV6/ITPR2(2)	0				125						c.(5851-5853)Cta>Ata		inositol 1,4,5-trisphosphate receptor, type 2	Caffeine(DB00201)						152.0	143.0	146.0					12																	26636792		1849	4092	5941	SO:0001583	missense	3709	1	120804	34				g.chr12:26636792G>T	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.5851C>A	chr12.hg19:g.26636792G>T	ENSP00000370744:p.Leu1951Ile	0						p.L1951I	NM_002223.2	NP_002214.2	1	2	3	2.002308	Q14571	ITPR2_HUMAN		42	6267	-	Colorectal(261;0.0847)		O94773	Missense_Mutation	SNP	ENST00000381340.3	0	1	hg19	c.5851C>A	CCDS41764.1	0	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625897	0.87560	.	.	ENSG00000123104	ENST00000381340	D	0.95622	-3.76	5.17	4.26	0.50523	5.17	4.26	0.50523	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95478	0.8558	10	0.34782	T	0.22	.	14.1395	0.65311	0.0732:0.0:0.9268:0.0	.	1951	Q14571	ITPR2_HUMAN	I	1951	ENSP00000370744:L1951I	ENSP00000370744:L1951I	L	-	1	2	2	ITPR2	26528059	26528059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.670000	0.83925	2.671000	0.90904	0.586000	0.80456	CTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	0	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-2.531634	1	0.170000	NM_002223			12	12		685	671	0		1	0		0	0	158	0		9.990048e-01	2.258370e-01	0	0	0	48	0	12	685
ITPR2	3709	broad.mit.edu	37	12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					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)		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)	AGATACTGGCGATCCAAGCAC	0.448																																						ENST00000381340.3	1.000000	0.660000	1	8.200000e-01	0.990000	0.934117	0.990000	1.000000																									ETV6/ITPR2(2)	0				125						c.(2230-2232)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 2	Caffeine(DB00201)						68.0	70.0	69.0					12																	26809444		1998	4176	6174	SO:0001583	missense	3709	0	0					g.chr12:26809444G>A	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.2230C>T	chr12.hg19:g.26809444G>A	ENSP00000370744:p.Arg744Cys	0						p.R744C	NM_002223.2	NP_002214.2	1	2	3	2.002308	Q14571	ITPR2_HUMAN		19	2646	-	Colorectal(261;0.0847)		O94773	Missense_Mutation	SNP	ENST00000381340.3	1	1	hg19	c.2230C>T	CCDS41764.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452183	0.84209	.	.	ENSG00000123104	ENST00000381340	D	0.95690	-3.78	4.62	3.66	0.41972	4.62	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	.	14.7522	0.69533	0.0:0.0:0.8553:0.1447	.	744	Q14571	ITPR2_HUMAN	C	744	ENSP00000370744:R744C	ENSP00000370744:R744C	R	-	1	0	0	ITPR2	26700711	26700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.546000	0.85860	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_002223			23	23		250	249	0		1	1		0	0	56	0		9.999995e-01	8.046019e-01	0	3	0	32	0	23	250
ITPR2	3709	broad.mit.edu	37	12	26816642	26816642	+	Silent	SNP	C	C	T	rs539458742	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	563					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)		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)	AATCCTGCTGCGAGTGTCTCA	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		16654	0.0		0.0	False		,,,				2504	0.002					ENST00000381340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									ETV6/ITPR2(2)	0				125						c.(1687-1689)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 2	Caffeine(DB00201)						240.0	241.0	240.0					12																	26816642		1874	4108	5982	SO:0001819	synonymous_variant	3709	14	120824	48				g.chr12:26816642C>T	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.1689G>A	chr12.hg19:g.26816642C>T		0						p.S563S	NM_002223.2	NP_002214.2	1	2	3	2.002308	Q14571	ITPR2_HUMAN		15	2105	-	Colorectal(261;0.0847)		O94773	Silent	SNP	ENST00000381340.3	1	1	hg19	c.1689G>A	CCDS41764.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	1		2	2	2	0		0	0	283		283	282	1	2.060000	-20.000000	1	0.170000	NM_002223			329	322		1348	1327	1		1	1		0	0	283	0		1	9.915172e-01	0	6	0	26	0	329	1348
FGFR1OP2	26127	broad.mit.edu	37	12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000229395.3	+	6	907	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	189					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373																																						ENST00000229395.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(565-567)Gcc>Tcc		FGFR1 oncogene partner 2							86.0	80.0	82.0					12																	27116329		2203	4300	6503	SO:0001583	missense	26127	0	0					g.chr12:27116329G>T	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.565G>T	chr12.hg19:g.27116329G>T	ENSP00000229395:p.Ala189Ser	0					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	p.A189S	NM_015633.2	NP_056448.1	1	2	3	2.002308	Q9NVK5	FGOP2_HUMAN		6	907	+	Colorectal(261;0.0847)		Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	1	1	hg19	c.565G>T	CCDS8709.1	1	.	.	.	.	.	.	.	.	.	.	.	34	5.336050	0.95758	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.047999	0.85682	N	0.000000	D	0.83672	0.5305	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.985	D	0.84292	0.0500	9	0.52906	T	0.07	-24.0077	19.6699	0.95907	0.0:0.0:1.0:0.0	.	151;189	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	S	189;151	.	ENSP00000229395:A189S	A	+	1	0	0	FGFR1OP2	27007596	27007596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015633			47	47		168	163	1		1	1		0	0	37	0		1	1	0	28	0	108	0	47	168
TM7SF3	51768	broad.mit.edu	37	12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	104						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473																																						ENST00000343028.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(310-312)gaG>gaT		transmembrane 7 superfamily member 3							155.0	137.0	143.0					12																	27152544		2203	4300	6503	SO:0001583	missense	51768	0	0					g.chr12:27152544C>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.312G>T	chr12.hg19:g.27152544C>A	ENSP00000342322:p.Glu104Asp	0					TM7SF3_ENST00000542667.1_5'UTR	p.E104D	NM_016551.2	NP_057635.1	1	2	3	2.002308	Q9NS93	TM7S3_HUMAN		3	537	-	Colorectal(261;0.0847)		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	1	1	hg19	c.312G>T	CCDS8710.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211589	0.58452	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.41	3.45	0.39498	4.41	3.45	0.39498	.	0.339974	0.32868	N	0.005544	T	0.22742	0.0549	L	0.53249	1.67	0.26920	N	0.966702	B	0.18863	0.031	B	0.10450	0.005	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.2613	5.3827	0.16199	0.0:0.6159:0.1763:0.2078	.	104	Q9NS93	TM7S3_HUMAN	D	104;83;109	ENSP00000342322:E104D	ENSP00000342322:E104D	E	-	3	2	2	TM7SF3	27043811	27043811	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	0.065000	0.14466	2.459000	0.83118	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_016551			65	65		270	266	1		1	1		0	0	68	0		1	1	0	51	0	215	0	65	270
C12orf71	728858	broad.mit.edu	37	12	27234975	27234975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27234975C>T	ENST00000429849.2	-	1	472	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	148										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ACAGCGTCATCATCTTTCAGA	0.418																																						ENST00000429849.2	1.000000	0.460000	1	7.900000e-01	0.990000	0.926281	0.990000	1.000000																										0				8						c.(442-444)Gat>Aat		chromosome 12 open reading frame 71							56.0	52.0	53.0					12																	27234975		1851	4096	5947	SO:0001583	missense	728858	0	0					g.chr12:27234975C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.442G>A	chr12.hg19:g.27234975C>T	ENSP00000413728:p.Asp148Asn	0						p.D148N	NM_001080406.1	NP_001073875.1	1	2	3	2.002308	A8MTZ7	CL071_HUMAN		1	472	-				Missense_Mutation	SNP	ENST00000429849.2	0	1	hg19	c.442G>A	CCDS44851.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565368	0.27915	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.52983	0.64	3.22	2.32	0.28847	3.22	2.32	0.28847	.	0.000000	0.32918	U	0.005496	T	0.24198	0.0586	N	0.11560	0.145	0.09310	N	1	B	0.30851	0.297	B	0.27170	0.077	T	0.16660	-1.0395	10	0.87932	D	0	-0.5384	6.3487	0.21363	0.0:0.8568:0.0:0.1432	.	148	A8MTZ7	CL071_HUMAN	N	148	ENSP00000413728:D148N	ENSP00000381796:D148N	D	-	1	0	0	C12orf71	27126242	27126242	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.242000	0.18087	0.689000	0.31550	0.511000	0.50034	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-5.192893	1	0.170000	NM_001080406			4	4		33	33	1		1			0	0	11	0		8.940575e-01	0	0	0	0	0	0	4	33
STK38L	23012	broad.mit.edu	37	12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											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)					TATACCTATAAAAGGTTTGAA	0.378																																						ENST00000389032.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1330-1332)aAa>aCa		serine/threonine kinase 38 like							105.0	114.0	111.0					12																	27475324		2203	4300	6503	SO:0001583	missense	23012	0	0					g.chr12:27475324A>C	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.1331A>C	chr12.hg19:g.27475324A>C	ENSP00000373684:p.Lys444Thr	0					STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	p.K444T	NM_015000.3	NP_055815.1	1	2	3	2.002308				14	1500	+	Colorectal(261;0.0847)			Missense_Mutation	SNP	ENST00000389032.3	1	1	hg19	c.1331A>C	CCDS31761.1	1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441338	0.43326	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.105878	0.64402	D	0.000008	T	0.77705	0.4170	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.984;0.99	D	0.83676	0.0169	10	0.87932	D	0	.	14.8942	0.70630	1.0:0.0:0.0:0.0	.	351;444	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	444;351	ENSP00000373684:K444T;ENSP00000446386:K351T	ENSP00000373684:K444T	K	+	2	0	0	STK38L	27366591	27366591	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	9.319000	0.96338	1.978000	0.57642	0.377000	0.23210	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_015000			129	124		575	565	1		1	1		0	0	171	0		1	1	0	54	0	95	0	129	575
MRPS35	60488	broad.mit.edu	37	12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408																																						ENST00000081029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(199-201)Cct>Tct		mitochondrial ribosomal protein S35							95.0	89.0	91.0					12																	27869269		2203	4300	6503	SO:0001583	missense	60488	0	0					g.chr12:27869269C>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.199C>T	chr12.hg19:g.27869269C>T	ENSP00000081029:p.Pro67Ser	0					MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	p.P67S	NM_021821.3	NP_068593.2	1	2	3	2.002308	Q9Y2Q9	RT28_HUMAN		3	270	+	Lung SC(9;0.0873)		B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	1	1	hg19	c.199C>T	CCDS8714.1	1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829827	0.16749	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	5.81	2.73	0.32206	5.81	2.73	0.32206	.	0.338596	0.34700	N	0.003748	T	0.23766	0.0575	L	0.39467	1.215	0.30240	N	0.795102	B;B	0.22146	0.022;0.065	B;B	0.22753	0.041;0.018	T	0.14117	-1.0484	10	0.07813	T	0.8	-10.0961	1.6724	0.02814	0.235:0.4684:0.1204:0.1762	.	67;67	P82673-2;P82673	.;RT35_HUMAN	S	67	ENSP00000081029:P67S;ENSP00000445390:P67S	ENSP00000081029:P67S	P	+	1	0	0	MRPS35	27760536	27760536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.630000	0.46494	0.792000	0.33850	-0.150000	0.13652	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_021821			61	60		279	276	1		1	1		0	0	62	0		1	1	0	97	0	197	0	61	279
CCDC91	55297	broad.mit.edu	37	12	28459812	28459812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28459812G>A	ENST00000545336.1	+	8	824	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	135					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				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)					TACAGCTTCAGCAAAAAATTT	0.328																																						ENST00000545336.1	1.000000	0.210000	5.900000e-01	2.900000e-01	0.410000	0.460413	0.410000	0.390000																										0				22						c.(403-405)caG>caA		coiled-coil domain containing 91							68.0	71.0	70.0					12																	28459812		2203	4300	6503	SO:0001819	synonymous_variant	55297	0	0					g.chr12:28459812G>A	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.405G>A	chr12.hg19:g.28459812G>A		0					CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR	p.Q135Q			1	2	3	2.002308	Q7Z6B0	CCD91_HUMAN		8	824	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	1	1	hg19	c.405G>A	CCDS8716.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	0	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-10.730430	1	0.170000	NM_018318			10	10		291	284	0		1	1		0	0	70	0		9.965747e-01	6.981609e-01	0	4	0	67	0	10	291
CCDC91	55297	broad.mit.edu	37	12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	369	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				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)					AAACAGGAAACTGTTAAGGCA	0.398																																						ENST00000545336.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999758	0.990000	1.000000																										0				22						c.(1105-1107)aCt>aAt		coiled-coil domain containing 91							65.0	68.0	67.0					12																	28636989		2203	4300	6503	SO:0001583	missense	55297	0	0					g.chr12:28636989C>A	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.1106C>A	chr12.hg19:g.28636989C>A	ENSP00000438040:p.Thr369Asn	0					CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000540401.1_3'UTR	p.T369N			1	2	3	2.002308	Q7Z6B0	CCD91_HUMAN		15	1525	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	1	1	hg19	c.1106C>A	CCDS8716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554824|2.554824	0.45487|0.45487	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000542801|ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.|T;T;T;T;T;T;T	.|0.46819	.|1.43;0.99;1.43;1.43;0.99;1.42;0.86	5.83|5.83	3.69|3.69	0.42338|0.42338	5.83|5.83	3.69|3.69	0.42338|0.42338	.|.	.|0.199900	.|0.34906	.|N	.|0.003599	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.21579|0.21579	N|N	0.999638|0.999638	.|P;P;P	.|0.40794	.|0.514;0.729;0.729	.|B;P;P	.|0.45232	.|0.193;0.474;0.474	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.38643	.|T	.|0.18	-10.0404|-10.0404	8.9952|8.9952	0.36048|0.36048	0.0:0.8074:0.0:0.1926|0.0:0.8074:0.0:0.1926	.|.	.|333;369;339	.|Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.|.;CCD91_HUMAN;.	M|N	40|109;333;369;369;333;339;68	.|ENSP00000444440:T109N;ENSP00000440513:T333N;ENSP00000438040:T369N;ENSP00000370658:T369N;ENSP00000370655:T333N;ENSP00000305075:T339N;ENSP00000445999:T68N	.|ENSP00000305075:T339N	L|T	+|+	1|2	2|0	2|0	CCDC91|CCDC91	28528256|28528256	28528256|28528256	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.337000|1.337000	0.33862|0.33862	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	CTG|ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_018318			15	14		62	61	1		1	1		0	0	31	0		9.999123e-01	9.999993e-01	0	24	0	104	0	15	62
FAR2	55711	broad.mit.edu	37	12	29469871	29469871	+	Silent	SNP	C	C	T	rs370238878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_ENST00000182377.4_Silent_p.Y351Y|FAR2_ENST00000547116.1_Silent_p.Y254Y|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	351					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)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498																																						ENST00000536681.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1051-1053)taC>taT		fatty acyl CoA reductase 2		C		1,4405	2.1+/-5.4	0,1,2202	144.0	150.0	148.0		1053	2.4	1.0	12		148	0,8600		0,0,4300	no	coding-synonymous	FAR2	NM_018099.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		351/516	29469871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55711	2	121412	37				g.chr12:29469871C>T	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.1053C>T	chr12.hg19:g.29469871C>T		0					FAR2_ENST00000547116.1_Silent_p.Y254Y|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Silent_p.Y351Y	p.Y351Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	1	2	3	2.002308	Q96K12	FACR2_HUMAN		9	1299	+			F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	1	1	hg19	c.1053C>T	CCDS8717.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	1	0	1		2	2	2	0		0	0	281		281	278	1	2.060000	-20.000000	1	0.170000	NM_018099			237	231		1015	997	1		1	1		0	0	281	0		1	9.871317e-01	0	5	0	26	0	237	1015
OVCH1	341350	broad.mit.edu	37	12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	562						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			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)					TGGAGGGATGCCACAGACATC	0.478																																						ENST00000318184.5	1.000000	0.490000	1	6.900000e-01	0.960000	0.879675	0.960000	1.000000																										0				92						c.(1684-1686)gGc>gAc		ovochymase 1							46.0	46.0	46.0					12																	29624906		1927	4121	6048	SO:0001583	missense	341350	0	0					g.chr12:29624906C>T	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.1685G>A	chr12.hg19:g.29624906C>T	ENSP00000326708:p.Gly562Asp	0					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.G562D	NM_183378.2	NP_899234.2	1	2	3	2.002308	Q7RTY7	OVCH1_HUMAN		16	1684	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)			Missense_Mutation	SNP	ENST00000318184.5	1	1	hg19	c.1685G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266707	0.59540	.	.	ENSG00000187950	ENST00000318184	T	0.67523	-0.27	2.16	2.16	0.27623	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.62780	0.2456	N	0.08118	0	0.36513	D	0.869735	D	0.89917	1.0	D	0.69654	0.965	T	0.72663	-0.4225	9	0.87932	D	0	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	562	Q7RTY7	OVCH1_HUMAN	D	562	ENSP00000326708:G562D	ENSP00000326708:G562D	G	-	2	0	0	OVCH1	29516173	29516173	0.994000	0.37717	0.401000	0.26359	0.922000	0.55478	3.254000	0.51477	1.520000	0.48965	0.650000	0.86243	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-14.883380	1	0.170000	NM_183378			10	10		118	116	0		1			0	0	38	0		9.970220e-01	0	0	0	0	0	0	10	118
OVCH1	341350	broad.mit.edu	37	12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	561						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			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)					AGGGATGCCACAGACATCTAC	0.478																																						ENST00000318184.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1681-1683)tGt>tAt		ovochymase 1							45.0	45.0	45.0					12																	29624909		1921	4120	6041	SO:0001583	missense	341350	0	0					g.chr12:29624909C>T	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.1682G>A	chr12.hg19:g.29624909C>T	ENSP00000326708:p.Cys561Tyr	0					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.C561Y	NM_183378.2	NP_899234.2	1	2	3	2.002308	Q7RTY7	OVCH1_HUMAN		16	1681	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)			Missense_Mutation	SNP	ENST00000318184.5	1	1	hg19	c.1682G>A		1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531305	0.27387	.	.	ENSG00000187950	ENST00000318184	T	0.66280	-0.2	2.16	2.16	0.27623	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.56790	0.2009	N	0.08118	0	0.25530	N	0.987281	D	0.65815	0.995	P	0.60682	0.878	T	0.52873	-0.8517	9	0.54805	T	0.06	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	561	Q7RTY7	OVCH1_HUMAN	Y	561	ENSP00000326708:C561Y	ENSP00000326708:C561Y	C	-	2	0	0	OVCH1	29516176	29516176	1.000000	0.71417	0.376000	0.26042	0.814000	0.46013	3.276000	0.51646	1.520000	0.48965	0.650000	0.86243	TGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_183378			32	32		94	92	1		1			0	0	40	0		1	0	0	0	0	0	0	32	94
OVCH1	341350	broad.mit.edu	37	12	29629167	29629167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	481	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			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)					CAGAATCACCGTAAATCACAA	0.398																																						ENST00000318184.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1441-1443)taC>taT		ovochymase 1							193.0	184.0	187.0					12																	29629167		1885	4115	6000	SO:0001819	synonymous_variant	341350	4	120826	39				g.chr12:29629167G>A	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.1443C>T	chr12.hg19:g.29629167G>A		0					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.Y481Y	NM_183378.2	NP_899234.2	1	2	3	2.002308	Q7RTY7	OVCH1_HUMAN		13	1442	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)			Silent	SNP	ENST00000318184.5	1	1	hg19	c.1443C>T		1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_183378			111	109		637	626	1		1			0	0	144	0		1	0	0	0	0	0	0	111	637
OVCH1	341350	broad.mit.edu	37	12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	175	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			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)					CCATCCACTGGATAAGCAAAG	0.408																																						ENST00000318184.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(523-525)tCc>tTc		ovochymase 1							135.0	129.0	131.0					12																	29644056		1846	4093	5939	SO:0001583	missense	341350	0	0					g.chr12:29644056G>A	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.524C>T	chr12.hg19:g.29644056G>A	ENSP00000326708:p.Ser175Phe	0						p.S175F	NM_183378.2	NP_899234.2	1	2	3	2.002308	Q7RTY7	OVCH1_HUMAN		5	523	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)			Missense_Mutation	SNP	ENST00000318184.5	1	1	hg19	c.524C>T		1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592696	0.28357	.	.	ENSG00000187950	ENST00000318184	D	0.92699	-3.09	2.47	0.599	0.17519	2.47	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84037	0.5384	N	0.21194	0.64	0.09310	N	0.999997	B	0.24721	0.11	B	0.27500	0.08	T	0.73845	-0.3854	9	0.59425	D	0.04	.	4.6686	0.12678	0.3229:0.0:0.6771:0.0	.	175	Q7RTY7	OVCH1_HUMAN	F	175	ENSP00000326708:S175F	ENSP00000326708:S175F	S	-	2	0	0	OVCH1	29535323	29535323	0.757000	0.28394	0.327000	0.25402	0.064000	0.16182	0.845000	0.27668	0.150000	0.19136	-0.244000	0.11960	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_183378			67	65		231	230	1		1			0	0	83	0		1	0	0	0	0	0	0	67	231
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R28C(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)					TTGACCATGCGAATTCCACAC	0.428																																						ENST00000318184.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R28C(1)	large_intestine(1)	92						c.(82-84)Cgc>Tgc		ovochymase 1							133.0	125.0	127.0					12																	29649590		1877	4126	6003	SO:0001583	missense	341350	4	120822	39				g.chr12:29649590G>A	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.82C>T	chr12.hg19:g.29649590G>A	ENSP00000326708:p.Arg28Cys	0						p.R28C	NM_183378.2	NP_899234.2	1	2	3	2.002308	Q7RTY7	OVCH1_HUMAN		2	81	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)			Missense_Mutation	SNP	ENST00000318184.5	1	1	hg19	c.82C>T		1	.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	0	OVCH1	29540857	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_183378			79	78		360	353	1		1			0	0	97	0		1	0	0	0	0	0	0	79	360
TMTC1	83857	broad.mit.edu	37	12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000539277.1	-	18	2660	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	TMTC1_ENST00000256062.5_Missense_Mutation_p.R760C|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				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)					TTTTCTAGGCGATCCAATTTG	0.458																																						ENST00000539277.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2602-2604)Cgc>Tgc		transmembrane and tetratricopeptide repeat containing 1							260.0	254.0	256.0					12																	29659826		2203	4300	6503	SO:0001583	missense	83857	0	0					g.chr12:29659826G>A		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.2602C>T	chr12.hg19:g.29659826G>A	ENSP00000442046:p.Arg868Cys	0					TMTC1_ENST00000256062.5_Missense_Mutation_p.R760C|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	p.R868C	NM_001193451.1	NP_001180380.1	1	2	3	2.002308	Q8IUR5	TMTC1_HUMAN		18	2660	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	1	1	hg19	c.2602C>T	CCDS53772.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219115	0.79464	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69806	-0.43;-0.23;-0.43;-0.31	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86178	2.8	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	0.86309	0.1685	10	0.66056	D	0.02	-14.4245	17.4952	0.87715	0.0:0.0:1.0:0.0	.	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	C	631;760;930;892;868	ENSP00000256062:R760C;ENSP00000448112:R930C;ENSP00000449043:R892C;ENSP00000442046:R868C	ENSP00000256062:R760C	R	-	1	0	0	TMTC1	29551093	29551093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.186000	0.65082	2.463000	0.83235	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_031920			107	105		614	605	1		1	0		0	0	147	0		1	8.735250e-01	0	0	0	23	0	107	614
TMTC1	83857	broad.mit.edu	37	12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000539277.1	-	12	1868	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	TMTC1_ENST00000256062.5_Missense_Mutation_p.I496V|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V|RP11-310I24.1_ENST00000549070.1_RNA	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	604						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				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)					GTTTGGTATATTTCTTCAGCT	0.333																																						ENST00000539277.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1810-1812)Ata>Gta		transmembrane and tetratricopeptide repeat containing 1							123.0	111.0	115.0					12																	29673629		2203	4300	6503	SO:0001583	missense	83857	0	0					g.chr12:29673629T>C		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.1810A>G	chr12.hg19:g.29673629T>C	ENSP00000442046:p.Ile604Val	0					TMTC1_ENST00000256062.5_Missense_Mutation_p.I496V|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V	p.I604V	NM_001193451.1	NP_001180380.1	1	2	3	2.002308	Q8IUR5	TMTC1_HUMAN		12	1868	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	1	1	hg19	c.1810A>G	CCDS53772.1	1	.	.	.	.	.	.	.	.	.	.	T	0.309	-0.969137	0.02232	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.62639	0.01;0.01;0.28;0.01	5.14	1.02	0.19986	5.14	1.02	0.19986	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.421087	0.25854	N	0.027877	T	0.31420	0.0796	N	0.04297	-0.235	0.21064	N	0.999796	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15578	-1.0432	9	.	.	.	-5.6208	6.5409	0.22380	0.0:0.4529:0.0:0.5471	.	604;666	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	V	367;496;666;628;604	ENSP00000256062:I496V;ENSP00000448112:I666V;ENSP00000449043:I628V;ENSP00000442046:I604V	.	I	-	1	0	0	TMTC1	29564896	29564896	0.125000	0.22332	0.036000	0.18154	0.953000	0.61014	0.436000	0.21526	0.355000	0.24131	0.533000	0.62120	ATA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_031920			64	63		252	250	1		1	0		0	0	78	0		1	8.067238e-01	0	1	0	13	0	64	252
TMTC1	83857	broad.mit.edu	37	12	29709921	29709921	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000539277.1	-	10	1603	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	TMTC1_ENST00000256062.5_Silent_p.R407R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000551659.1_Silent_p.R577R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				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)					CACTTGCATGGCGTGGATACA	0.453																																						ENST00000539277.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1543-1545)cgC>cgA		transmembrane and tetratricopeptide repeat containing 1							155.0	137.0	143.0					12																	29709921		2203	4300	6503	SO:0001819	synonymous_variant	83857	0	0					g.chr12:29709921G>T		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.1545C>A	chr12.hg19:g.29709921G>T		0					TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000256062.5_Silent_p.R407R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R	p.R515R	NM_001193451.1	NP_001180380.1	1	2	3	2.002308	Q8IUR5	TMTC1_HUMAN		10	1603	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	1	1	hg19	c.1545C>A	CCDS53772.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_031920			65	64		286	282	1		1	0		0	0	56	0		1	8.875173e-01	0	0	0	19	0	65	286
IPO8	10526	broad.mit.edu	37	12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000256079.4	-	18	2302	c.1964T>C	c.(1963-1965)aTt>aCt	p.I655T	IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	655					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					CAGGGAAAGAATTTCTTCATA	0.378																																						ENST00000256079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1963-1965)aTt>aCt		importin 8							49.0	56.0	53.0					12																	30806011		2200	4298	6498	SO:0001583	missense	10526	0	0					g.chr12:30806011A>G	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.1964T>C	chr12.hg19:g.30806011A>G	ENSP00000256079:p.Ile655Thr	0					IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	p.I655T	NM_006390.3	NP_006381.2	1	2	3	2.002308	O15397	IPO8_HUMAN		18	2302	-	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)		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	1	1	hg19	c.1964T>C	CCDS8719.1	1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792267	0.31685	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.56941	0.43;0.43	4.78	3.64	0.41730	4.78	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.093988	0.64402	N	0.000001	T	0.60064	0.2240	L	0.55103	1.725	0.58432	D	0.999995	B;D;P	0.57257	0.425;0.979;0.895	B;P;P	0.57846	0.3;0.828;0.468	T	0.59506	-0.7442	10	0.52906	T	0.07	-11.0547	10.1644	0.42871	0.9203:0.0:0.0797:0.0	.	450;131;655	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	655;131;450	ENSP00000256079:I655T;ENSP00000444520:I450T	ENSP00000256079:I655T	I	-	2	0	0	IPO8	30697278	30697278	1.000000	0.71417	0.987000	0.45799	0.801000	0.45260	8.988000	0.93501	0.790000	0.33803	0.533000	0.62120	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_006390			59	59		252	248	1		1	1		0	0	58	0		1	9.999986e-01	0	27	0	61	0	59	252
IPO8	10526	broad.mit.edu	37	12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000256079.4	-	9	1360	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	341					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					CTTCATCTGCTTCCAGGTTAT	0.378																																						ENST00000256079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1021-1023)aAg>aCg		importin 8							147.0	147.0	147.0					12																	30823918		2203	4300	6503	SO:0001583	missense	10526	0	0					g.chr12:30823918T>G	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.1022A>C	chr12.hg19:g.30823918T>G	ENSP00000256079:p.Lys341Thr	0					IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	p.K341T	NM_006390.3	NP_006381.2	1	2	3	2.002308	O15397	IPO8_HUMAN		9	1360	-	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)		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	1	1	hg19	c.1022A>C	CCDS8719.1	1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652669	0.67472	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.69175	-0.38;-0.38;-0.38	4.03	4.03	0.46877	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048446	0.85682	D	0.000000	T	0.81380	0.4810	M	0.84948	2.725	0.51767	D	0.999938	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.984	T	0.81382	-0.0958	10	0.30078	T	0.28	-22.7694	13.3903	0.60821	0.0:0.0:0.0:1.0	.	136;341	B7Z7M3;O15397	.;IPO8_HUMAN	T	341;136;155	ENSP00000256079:K341T;ENSP00000444520:K136T;ENSP00000439556:K155T	ENSP00000256079:K341T	K	-	2	0	0	IPO8	30715185	30715185	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.751000	0.62169	1.811000	0.52892	0.477000	0.44152	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	1	0	1		2	2	2	0		0	0	134		134	130	1	2.060000	-20.000000	1	0.170000	NM_006390			116	114		481	472	1		1	1		0	0	134	0		1	9.999756e-01	0	13	0	52	0	116	481
CAPRIN2	65981	broad.mit.edu	37	12	30863426	30863426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30863426G>A	ENST00000395805.2	-	17	3217	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000251071.5_Intron	NM_001206856.1	NP_001193785.1			caprin family member 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)					GCAACAGTGAGTTTCTCATAA	0.383																																						ENST00000395805.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2668-2670)aaC>aaT		caprin family member 2							55.0	61.0	59.0					12																	30863426		2187	4292	6479	SO:0001819	synonymous_variant	65981	0	0					g.chr12:30863426G>A	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.2670C>T	chr12.hg19:g.30863426G>A		0					CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000308433.5_Intron	p.N890N	NM_001206856.1	NP_001193785.1	1	2	3	2.002308				17	3217	-	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)			Silent	SNP	ENST00000395805.2	1	1	hg19	c.2670C>T	CCDS55816.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_023925			107	106		470	460	0		1	1		0	0	111	0		1	5.802861e-01	0	3	0	7	0	107	470
CAPRIN2	65981	broad.mit.edu	37	12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T	rs371879635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000298892.5	-	12	2845	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N	NM_023925.3	NP_076414.2			caprin family member 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)					GAAGCCTGATCGGTAGTAACC	0.368																																						ENST00000298892.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2095-2097)Gat>Aat		caprin family member 2		C	ASN/ASP,ASN/ASP,ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	98.0	102.0	100.0		2095,2095,2095,	4.5	0.7	12		100	0,8600		0,0,4300	no	missense,missense,missense,intron	CAPRIN2	NM_001002259.1,NM_023925.3,NM_032156.3,NM_001206856.1	23,23,23,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	699/1128,699/1078,699/961,	30873798	1,13005	2203	4300	6503	SO:0001583	missense	65981	2	121410	35				g.chr12:30873798C>T	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	ENST00000298892.5:c.2095G>A	chr12.hg19:g.30873798C>T	ENSP00000298892:p.Asp699Asn	0					CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N	p.D699N	NM_023925.3	NP_076414.2	1	2	3	2.002308				12	2845	-	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)			Missense_Mutation	SNP	ENST00000298892.5	1	1	hg19	c.2095G>A	CCDS8720.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231118	0.79688	2.27E-4	0.0	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	1.99;2.0;1.99;1.99;1.99;1.99	5.35	4.46	0.54185	5.35	4.46	0.54185	.	0.353866	0.30969	N	0.008504	T	0.31451	0.0797	L	0.47716	1.5	0.33215	D	0.553909	D;P;P;D	0.76494	0.999;0.926;0.947;0.984	P;B;B;P	0.56788	0.806;0.324;0.294;0.634	T	0.45425	-0.9262	10	0.51188	T	0.08	-6.765	11.2924	0.49258	0.0:0.9158:0.0:0.0842	.	699;699;699;699	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	445;699;699;366;699;618	ENSP00000415407:D445N;ENSP00000298892:D699N;ENSP00000251071:D699N;ENSP00000309785:D366N;ENSP00000391479:D699N;ENSP00000438010:D618N	ENSP00000251071:D699N	D	-	1	0	0	CAPRIN2	30765065	30765065	0.992000	0.36948	0.727000	0.30756	0.985000	0.73830	3.019000	0.49635	1.247000	0.43917	0.591000	0.81541	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-2.971052	1	0.170000	NM_023925			63	61		345	337	1		1	1		0	0	77	0		1	9.908458e-01	0	2	0	40	0	63	345
CAPRIN2	65981	broad.mit.edu	37	12	30878969	30878969	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000395805.2	-	9	2383	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000251071.5_Silent_p.D612D	NM_001206856.1	NP_001193785.1			caprin family member 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)					TCAATACTGGATCCTTCGGAA	0.383																																						ENST00000395805.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1834-1836)gaT>gaC		caprin family member 2							97.0	91.0	93.0					12																	30878969		2203	4300	6503	SO:0001819	synonymous_variant	65981	0	0					g.chr12:30878969A>G	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.1836T>C	chr12.hg19:g.30878969A>G		0					CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000251071.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000308433.5_Silent_p.D279D	p.D612D	NM_001206856.1	NP_001193785.1	1	2	3	2.002308				9	2383	-	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)			Silent	SNP	ENST00000395805.2	1	1	hg19	c.1836T>C	CCDS55816.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_023925			53	51		205	204	0		1	1		0	0	67	0		1	9.993870e-01	0	10	0	35	0	53	205
CAPRIN2	65981	broad.mit.edu	37	12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000395805.2	-	1	569	c.22G>A	c.(22-24)Gca>Aca	p.A8T	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T	NM_001206856.1	NP_001193785.1			caprin family member 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)					CCCAATGATGCTTGAGATACT	0.433											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395805.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999190	0.990000	1.000000																										0				48						c.(22-24)Gca>Aca		caprin family member 2							94.0	96.0	95.0					12																	30906676		2201	4293	6494	SO:0001583	missense	65981	2	121274	37				g.chr12:30906676C>T	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.22G>A	chr12.hg19:g.30906676C>T	ENSP00000379150:p.Ala8Thr	0		OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA	p.A8T	NM_001206856.1	NP_001193785.1	1	2	3	2.002308				1	569	-	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)			Missense_Mutation	SNP	ENST00000395805.2	1	1	hg19	c.22G>A	CCDS55816.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682559	0.47991	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73152	-0.72;2.76;-0.67;2.76	3.57	-0.709	0.11237	3.57	-0.709	0.11237	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.17228	-1.0376	8	.	.	.	4.8522	2.7491	0.05275	0.3397:0.342:0.0:0.3183	.	8;8;8;8	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	T	8	ENSP00000298892:A8T;ENSP00000379150:A8T;ENSP00000251071:A8T;ENSP00000391479:A8T	.	A	-	1	0	0	CAPRIN2	30797943	30797943	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.003000	0.12901	-0.274000	0.09232	0.655000	0.94253	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_023925			82	79		697	687	1		1	0		0	0	111	0		1	9.114339e-02	0	1	0	4	0	82	697
TSPAN11	441631	broad.mit.edu	37	12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	220						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662																																						ENST00000261177.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(658-660)Ctg>Atg		tetraspanin 11							34.0	31.0	32.0					12																	31136041		2203	4300	6503	SO:0001583	missense	441631	0	0					g.chr12:31136041C>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.658C>A	chr12.hg19:g.31136041C>A	ENSP00000261177:p.Leu220Met	0					TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M	p.L220M	NM_001080509.2	NP_001073978.1	1	2	3	2.002308	A1L157	TSN11_HUMAN		7	717	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	1	1	hg19	c.658C>A	CCDS31765.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433800	0.43224	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	3.32	2.42	0.29668	3.32	2.42	0.29668	Tetraspanin, EC2 domain (1);	0.210787	0.30051	U	0.010522	D	0.86138	0.5861	M	0.75150	2.29	0.39744	D	0.971792	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83375	0.0009	10	0.30078	T	0.28	.	8.4767	0.33018	0.0:0.878:0.0:0.122	.	210;220	F5H0F0;A1L157	.;TSN11_HUMAN	M	220;149;210;220	ENSP00000437403:L220M;ENSP00000445503:L149M;ENSP00000439895:L210M;ENSP00000261177:L220M	ENSP00000261177:L220M	L	+	1	2	2	TSPAN11	31027308	31027308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.296000	0.59055	0.701000	0.31803	0.467000	0.42956	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	XM_497334			28	26		110	107	1		1	0		0	0	32	0		1	0	0	0	0	1	0	28	110
DDX11	1663	broad.mit.edu	37	12	31254899	31254899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31254899C>A	ENST00000407793.2	+	21	2436	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	DDX11_ENST00000542838.1_Missense_Mutation_p.L729M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000228264.6_Missense_Mutation_p.L703M	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	729					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)			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)					GCTGGGCCGTCTGGCTGCCAG	0.637										Multiple Myeloma(12;0.14)																												ENST00000407793.2	1.000000	0.440000	1	6.000000e-01	0.810000	0.801595	0.810000	1.000000																										0				57						c.(2185-2187)Ctg>Atg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							48.0	48.0	48.0					12																	31254899		1873	4066	5939	SO:0001583	missense	1663	0	0					g.chr12:31254899C>A	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.2185C>A	chr12.hg19:g.31254899C>A	ENSP00000384703:p.Leu729Met	0	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.L729M	p.L729M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	1	2	3	2.002308	Q96FC9	DDX11_HUMAN		21	2436	+	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)		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	0	1	hg19	c.2185C>A	CCDS44856.1	0	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251045	0.22880	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.85	1.98	0.26296	3.85	1.98	0.26296	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000001	D	0.94778	0.8314	M	0.80028	2.48	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	0.92802	0.6257	10	0.72032	D	0.01	.	7.095	0.25305	0.0:0.7656:0.0:0.2344	.	703;729;729	Q96FC9-3;Q96FC9;Q96FC9-2	.;DDX11_HUMAN;.	M	729;729;454;703;729	ENSP00000443426:L729M;ENSP00000384703:L729M;ENSP00000228264:L703M;ENSP00000440402:L729M	ENSP00000228264:L703M	L	+	1	2	2	DDX11	31146166	31146166	0.397000	0.25270	0.860000	0.33809	0.025000	0.11179	0.867000	0.27968	0.285000	0.22329	-0.199000	0.12753	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	0	0	1		2	2	2	0		0	0	34		34	39	1	2.060000	-19.981100	1	0.170000	NM_030653			12	9		170	134	0		1	1		0	0	34	0		9.968585e-01	7.652647e-01	0	11	0	30	0	12	170
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G	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	797					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)			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)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				57						c.(2389-2391)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							63.0	61.0	62.0					12																	31255888		2203	4300	6503	SO:0001819	synonymous_variant	1663	0	0					g.chr12:31255888C>T	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.2391C>T	chr12.hg19:g.31255888C>T		0	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_Silent_p.G797G	p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	1	2	3	2.002308	Q96FC9	DDX11_HUMAN		24	2642	+	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)		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	1	1	hg19	c.2391C>T	CCDS44856.1	1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	0	DDX11	31147155	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	1	0	1		2	2	2	0		0	0	57		57	61	1	2.060000	-18.498040	1	0.170000	NM_030653			38	37		225	219	1		1	1		0	0	57	0		1	8.599756e-01	0	9	0	14	0	38	225
DENND5B	160518	broad.mit.edu	37	12	31600696	31600696	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	ENST00000389082.5	-	6	1901	c.1637T>C	c.(1636-1638)tTt>tCt	p.F546S	DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S|DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	546	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			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						GTCAGACAGAAAGGAAGCCTG	0.378																																						ENST00000389082.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999634	0.990000	1.000000																										0				38						c.(1636-1638)tTt>tCt		DENN/MADD domain containing 5B							39.0	40.0	40.0					12																	31600696		1887	4118	6005	SO:0001583	missense	160518	0	0					g.chr12:31600696A>G	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.1637T>C	chr12.hg19:g.31600696A>G	ENSP00000373734:p.Phe546Ser	0					DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S	p.F546S	NM_144973.3	NP_659410.3	1	2	3	2.002308	Q6ZUT9	DEN5B_HUMAN		6	1901	-			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	1	1	hg19	c.1637T>C	CCDS44857.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511423	0.85389	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.0	5.0	0.66597	5.0	5.0	0.66597	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92000	0.5610	10	0.87932	D	0	-15.7777	14.853	0.70313	1.0:0.0:0.0:0.0	.	568;546;581	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	S	546;581;581;568	ENSP00000373734:F546S;ENSP00000306482:F581S;ENSP00000444889:F581S;ENSP00000346238:F568S	ENSP00000306482:F581S	F	-	2	0	0	DENND5B	31491963	31491963	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999850	1	0.170000	NM_144973			12	12		42	40	1		1	1		0	0	14	0		9.993438e-01	8.648342e-01	0	6	0	9	0	12	42
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000281474.5	+	5	2000	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000548411.1_Missense_Mutation_p.R633W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	633					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)			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)			TGCCATAATCCGGGACCAAAT	0.483																																						ENST00000281474.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1897-1899)Cgg>Tgg		bicaudal D homolog 1 (Drosophila)							141.0	142.0	142.0					12																	32481286		2203	4300	6503	SO:0001583	missense	636	0	0					g.chr12:32481286C>T	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.1897C>T	chr12.hg19:g.32481286C>T	ENSP00000281474:p.Arg633Trp	0					BICD1_ENST00000548411.1_Missense_Mutation_p.R633W	p.R633W	NM_001714.2	NP_001705.2	1	2	3	2.002308	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)	5	2000	+	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)		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	1	1	hg19	c.1897C>T	CCDS8726.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921531	0.52653	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.2	4.22	0.49857	5.2	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.78033	-0.2362	10	0.87932	D	0	.	14.9211	0.70838	0.233:0.767:0.0:0.0	.	633;633	F8W113;Q96G01	.;BICD1_HUMAN	W	633	ENSP00000446793:R633W;ENSP00000281474:R633W	ENSP00000281474:R633W	R	+	1	2	2	BICD1	32372553	32372553	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	0.460000	0.21924	2.415000	0.81967	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	1	0	1		17	2	2	0		0	1	129		129	128	1	2.060000	-3.226142	1	0.170000	NM_001714			120	120		497	483	1		1	1		0	0	129	0		1	9.999998e-01	0	13	0	78	0	120	497
BICD1	636	broad.mit.edu	37	12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000281474.5	+	7	2366	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000548411.1_Missense_Mutation_p.Y755H	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	755	Interacts with RAB6A.				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)			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)			ATGTGATGAATATGTCACCCA	0.403																																						ENST00000281474.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2263-2265)Tat>Cat		bicaudal D homolog 1 (Drosophila)							91.0	86.0	88.0					12																	32490443		2203	4300	6503	SO:0001583	missense	636	0	0					g.chr12:32490443T>C	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.2263T>C	chr12.hg19:g.32490443T>C	ENSP00000281474:p.Tyr755His	0					BICD1_ENST00000548411.1_Missense_Mutation_p.Y755H	p.Y755H	NM_001714.2	NP_001705.2	1	2	3	2.002308	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)	7	2366	+	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)		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	1	1	hg19	c.2263T>C	CCDS8726.1	1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631919	0.67015	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.78123	0.4234	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.79431	-0.1806	10	0.31617	T	0.26	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	755;755	F8W113;Q96G01	.;BICD1_HUMAN	H	755	ENSP00000446793:Y755H;ENSP00000281474:Y755H	ENSP00000281474:Y755H	Y	+	1	0	0	BICD1	32381710	32381710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.600000	0.82769	1.968000	0.57251	0.482000	0.46254	TAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001714			85	85		348	337	1		1	1		0	0	74	0		1	9.840529e-01	0	4	0	25	0	85	348
FGD4	121512	broad.mit.edu	37	12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000427716.2	+	11	1778	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	452	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)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393																																						ENST00000427716.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1354-1356)Ctg>Atg		FYVE, RhoGEF and PH domain containing 4							125.0	117.0	120.0					12																	32772647		2203	4300	6503	SO:0001583	missense	121512	0	0					g.chr12:32772647C>A	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.1354C>A	chr12.hg19:g.32772647C>A	ENSP00000394487:p.Leu452Met	0					FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M	p.L452M	NM_139241.2	NP_640334.2	1	2	3	2.002308	Q96M96	FGD4_HUMAN		11	1778	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	1	1	hg19	c.1354C>A	CCDS8727.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294195	0.60086	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-1.65	5.67	4.78	0.61160	5.67	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41294	D	0.000909	D	0.95532	0.8548	M	0.89414	3.03	0.43657	D	0.99607	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.996	D	0.95778	0.8814	10	0.87932	D	0	-10.4131	11.6996	0.51562	0.0:0.8583:0.0:0.1417	.	564;537;452;204	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	M	589;537;452;204;359;564;204	ENSP00000449273:L589M;ENSP00000431323:L537M;ENSP00000394487:L452M;ENSP00000266482:L204M;ENSP00000446695:L359M;ENSP00000433666:L564M;ENSP00000370413:L204M	ENSP00000266482:L204M	L	+	1	2	2	FGD4	32663914	32663914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.385000	0.46445	0.655000	0.94253	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_139241			106	106		440	431	1		1	1		0	0	100	0		1	9.997353e-01	0	6	0	46	0	106	440
FGD4	121512	broad.mit.edu	37	12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000427716.2	+	11	1883	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	487	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)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438																																						ENST00000427716.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1459-1461)Cca>Aca		FYVE, RhoGEF and PH domain containing 4							116.0	111.0	113.0					12																	32772752		2203	4300	6503	SO:0001583	missense	121512	0	0					g.chr12:32772752C>A	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.1459C>A	chr12.hg19:g.32772752C>A	ENSP00000394487:p.Pro487Thr	0					FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T	p.P487T	NM_139241.2	NP_640334.2	1	2	3	2.002308	Q96M96	FGD4_HUMAN		11	1883	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	1	1	hg19	c.1459C>A	CCDS8727.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.55	5.55	0.83447	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000131	D	0.94466	0.8219	M	0.75264	2.295	0.80722	D	1	B;P;D;D	0.89917	0.41;0.616;1.0;1.0	P;P;D;D	0.85130	0.579;0.579;0.997;0.995	D	0.94264	0.7505	10	0.56958	D	0.05	-14.0	19.5071	0.95124	0.0:1.0:0.0:0.0	.	599;572;487;239	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	T	624;572;487;239;394;599;239	ENSP00000449273:P624T;ENSP00000431323:P572T;ENSP00000394487:P487T;ENSP00000266482:P239T;ENSP00000446695:P394T;ENSP00000433666:P599T;ENSP00000370413:P239T	ENSP00000266482:P239T	P	+	1	0	0	FGD4	32664019	32664019	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.251000	0.78297	2.590000	0.87494	0.655000	0.94253	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_139241			91	86		364	352	1		1	1		0	0	102	0		1	9.999415e-01	0	30	0	29	0	91	364
FGD4	121512	broad.mit.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353																																						ENST00000427716.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1672-1674)Cga>Tga		FYVE, RhoGEF and PH domain containing 4							100.0	96.0	97.0					12																	32778624		2203	4300	6503	SO:0001587	stop_gained	121512	0	0					g.chr12:32778624C>T	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.1672C>T	chr12.hg19:g.32778624C>T	ENSP00000394487:p.Arg558*	0					FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*	p.R558*	NM_139241.2	NP_640334.2	1	2	3	2.002308	Q96M96	FGD4_HUMAN		14	2096	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	0	1	hg19	c.1672C>T	CCDS8727.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	2	FGD4	32669891	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-2.804093	1	0.170000	NM_139241			79	79		338	335	1		1	1		0	0	108	0		1	9.999908e-01	0	7	0	67	0	79	338
DNM1L	10059	broad.mit.edu	37	12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000549701.1	+	12	1483	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000452533.2_Missense_Mutation_p.C470Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y			O00429	DNM1L_HUMAN	dynamin 1-like	470	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGGTGACTTGTCTTCTTCGT	0.313																																						ENST00000549701.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1408-1410)tGt>tAt		dynamin 1-like							171.0	152.0	158.0					12																	32884840		2203	4300	6503	SO:0001583	missense	10059	0	0					g.chr12:32884840G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1409G>A	chr12.hg19:g.32884840G>A	ENSP00000450399:p.Cys470Tyr	0					DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000452533.2_Missense_Mutation_p.C470Y	p.C470Y			1	2	3	2.002308	O00429	DNM1L_HUMAN		12	1483	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	1	1	hg19	c.1409G>A	CCDS8729.1	1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843653	0.51164	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	4.98	4.98	0.66077	Dynamin central domain (1);	0.152770	0.64402	D	0.000010	T	0.63628	0.2527	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.55172	0.97;0.089;0.089;0.122;0.089;0.037	P;B;B;B;B;B	0.51229	0.663;0.041;0.266;0.033;0.041;0.18	T	0.72597	-0.4245	10	0.66056	D	0.02	.	18.6016	0.91249	0.0:0.0:1.0:0.0	.	267;523;523;536;523;470	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	Y	470;536;470;483;470;483;470;470;267;483	ENSP00000415131:C470Y;ENSP00000449089:C483Y;ENSP00000450399:C470Y;ENSP00000350948:C483Y;ENSP00000266481:C470Y;ENSP00000448610:C470Y;ENSP00000404160:C267Y;ENSP00000370388:C483Y	ENSP00000266479:C470Y	C	+	2	0	0	DNM1L	32776107	32776107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.468000	0.83385	0.655000	0.94253	TGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_012062			56	55		282	272	1		1	1		0	0	75	0		1	9.999997e-01	0	37	0	79	0	56	282
DNM1L	10059	broad.mit.edu	37	12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000549701.1	+	19	2178	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E676*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*			O00429	DNM1L_HUMAN	dynamin 1-like	702	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTGACAGAATCTGAGGA	0.393																																						ENST00000549701.1	1.000000	0.760000	1	8.900000e-01	0.990000	0.963111	0.990000	1.000000																										0				23						c.(2104-2106)Gaa>Taa		dynamin 1-like							152.0	150.0	151.0					12																	32895632		2203	4300	6503	SO:0001587	stop_gained	10059	0	0					g.chr12:32895632G>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.2104G>T	chr12.hg19:g.32895632G>T	ENSP00000450399:p.Glu702*	0					DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E676*	p.E702*			1	2	3	2.002308	O00429	DNM1L_HUMAN		19	2178	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	0	1	hg19	c.2104G>T	CCDS8729.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.961801	0.97967	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.119189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6304	0.88104	0.0:0.0:1.0:0.0	.	.	.	.	X	676;757;715;702;678;665;691;499;704	.	ENSP00000266481:E665X	E	+	1	0	0	DNM1L	32786899	32786899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.607000	0.98328	2.582000	0.87167	0.585000	0.79938	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-12.552010	1	0.170000	NM_012062			42	40		438	430	1		1	1		0	0	97	0		1	9.999848e-01	0	18	0	154	0	42	438
PKP2	5318	broad.mit.edu	37	12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000070846.6	-	5	1317	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000340811.4_Missense_Mutation_p.L431F	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	431					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)			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)					CAGCCACCTCCAATTTGTTGT	0.448																																						ENST00000070846.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1291-1293)ttG>ttT		plakophilin 2							129.0	127.0	127.0					12																	33003785		2203	4300	6503	SO:0001583	missense	5318	0	0					g.chr12:33003785C>A	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.1293G>T	chr12.hg19:g.33003785C>A	ENSP00000070846:p.Leu431Phe	0					PKP2_ENST00000340811.4_Missense_Mutation_p.L431F	p.L431F	NM_004572.3	NP_004563.2	1	2	3	2.002308	Q99959	PKP2_HUMAN		5	1317	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	1	1	hg19	c.1293G>T	CCDS8731.1	1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809063	0.70797	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69685	-0.42;0.75	4.7	4.7	0.59300	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.204716	0.42682	D	0.000676	T	0.78916	0.4359	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.995	D;D;P	0.68483	0.929;0.958;0.894	T	0.80867	-0.1190	10	0.62326	D	0.03	-6.8743	13.0312	0.58842	0.1612:0.8388:0.0:0.0	.	431;431;431	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	431	ENSP00000342800:L431F;ENSP00000070846:L431F	ENSP00000070846:L431F	L	-	3	2	2	PKP2	32895052	32895052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	2.319000	0.78375	0.462000	0.41574	TTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.393440	1	0.170000	NM_004572			97	92		368	358	1		1	1		0	0	84	0		1	9.999993e-01	0	17	0	62	0	97	368
PKP2	5318	broad.mit.edu	37	12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000070846.6	-	3	659	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000340811.4_Missense_Mutation_p.R212H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	212					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)			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)					GTCAAAGTGGCGCTGCCTGCT	0.612																																						ENST00000070846.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(634-636)cGc>cAc		plakophilin 2							138.0	117.0	124.0					12																	33031179		2203	4300	6503	SO:0001583	missense	5318	0	0					g.chr12:33031179C>T	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.635G>A	chr12.hg19:g.33031179C>T	ENSP00000070846:p.Arg212His	0					PKP2_ENST00000340811.4_Missense_Mutation_p.R212H	p.R212H	NM_004572.3	NP_004563.2	1	2	3	2.002308	Q99959	PKP2_HUMAN		3	659	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	1	1	hg19	c.635G>A	CCDS8731.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798607	0.50208	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81996	-1.56;-1.55	5.34	2.29	0.28610	5.34	2.29	0.28610	.	1.149450	0.06307	N	0.701990	T	0.78020	0.4218	L	0.46157	1.445	0.09310	N	1	P;P;P	0.52316	0.951;0.918;0.952	B;B;B	0.43052	0.31;0.164;0.406	T	0.66889	-0.5809	10	0.45353	T	0.12	-7.5805	5.7619	0.18205	0.0:0.6201:0.1447:0.2352	.	212;212;212	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	212	ENSP00000342800:R212H;ENSP00000070846:R212H	ENSP00000070846:R212H	R	-	2	0	0	PKP2	32922446	32922446	0.958000	0.32768	0.860000	0.33809	0.943000	0.58893	0.783000	0.26802	1.272000	0.44329	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.358891	1	0.170000	NM_004572			63	62		305	303	1		1	1		0	0	57	0		1	9.993310e-01	0	15	0	40	0	63	305
SYT10	341359	broad.mit.edu	37	12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Missense_Mutation_p.L94I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	275	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343																																						ENST00000228567.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(823-825)Ctt>Att		synaptotagmin X							66.0	66.0	66.0					12																	33559978		2203	4300	6503	SO:0001583	missense	341359	0	0					g.chr12:33559978G>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.823C>A	chr12.hg19:g.33559978G>T	ENSP00000228567:p.Leu275Ile	0					RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_Missense_Mutation_p.L94I|SYT10_ENST00000567656.1_5'Flank	p.L275I	NM_198992.3	NP_945343.1	1	2	3	2.002308	Q6XYQ8	SYT10_HUMAN		3	1119	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	1	1	hg19	c.823C>A	CCDS8732.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286843	0.80803	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71579	-0.58;-0.58	4.94	4.94	0.65067	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	U	0.002390	T	0.80341	0.4605	L	0.46741	1.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.79750	-0.1672	10	0.46703	T	0.11	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	275	Q6XYQ8	SYT10_HUMAN	I	275;94	ENSP00000228567:L275I;ENSP00000438691:L94I	ENSP00000228567:L275I	L	-	1	0	0	SYT10	33451245	33451245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.665000	0.90641	0.563000	0.77884	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_198992			44	44		201	200	1		1			0	0	42	0		1	0	0	0	0	0	0	44	201
SYT10	341359	broad.mit.edu	37	12	33579114	33579114	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	156					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413																																						ENST00000228567.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(466-468)gcA>gcG		synaptotagmin X							189.0	196.0	193.0					12																	33579114		2203	4300	6503	SO:0001819	synonymous_variant	341359	0	0					g.chr12:33579114T>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.468A>G	chr12.hg19:g.33579114T>C		0					SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	p.A156A	NM_198992.3	NP_945343.1	1	2	3	2.002308	Q6XYQ8	SYT10_HUMAN		2	764	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		Q495U2	Silent	SNP	ENST00000228567.3	1	1	hg19	c.468A>G	CCDS8732.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_198992			225	219		981	944	1		1			0	0	171	0		1	0	0	0	0	0	0	225	981
ALG10	84920	broad.mit.edu	37	12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	AC046130.1_ENST00000401300.2_RNA|RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	167					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338																																						ENST00000266483.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(499-501)Tgt>Cgt		ALG10, alpha-1,2-glucosyltransferase							197.0	202.0	200.0					12																	34178927		2203	4299	6502	SO:0001583	missense	84920	0	0					g.chr12:34178927T>C	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.499T>C	chr12.hg19:g.34178927T>C	ENSP00000266483:p.Cys167Arg	0					AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.C167R	NM_032834.3	NP_116223.3	1	2	3	2.002308	Q5BKT4	AG10A_HUMAN		3	818	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	1	1	hg19	c.499T>C	CCDS41769.1	1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145830	0.37923	.	.	ENSG00000139133	ENST00000266483	T	0.56275	0.47	3.13	3.13	0.36017	3.13	3.13	0.36017	.	0.145631	0.64402	D	0.000005	T	0.57932	0.2087	M	0.80847	2.515	0.80722	D	1	P	0.49961	0.93	P	0.48982	0.597	T	0.57740	-0.7759	10	0.23302	T	0.38	.	9.6518	0.39902	0.0:0.0:0.0:1.0	.	167	Q5BKT4	AG10A_HUMAN	R	167	ENSP00000266483:C167R	ENSP00000266483:C167R	C	+	1	0	0	ALG10	34070194	34070194	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.762000	0.55250	1.223000	0.43536	0.155000	0.16302	TGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	1	0	1		2	2	2	0		0	0	203		203	220	1	2.060000	-20.000000	1	0.170000	NM_032834			201	189		944	893	1		1	0		0	0	203	0		1	7.679983e-01	0	0	0	15	0	201	944
ALG10B	144245	broad.mit.edu	37	12	38710827	38710827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	44					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)			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)				ACCTGCCTCAGGCGCAGCGCT	0.632																																						ENST00000308742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(130-132)caG>caA		ALG10B, alpha-1,2-glucosyltransferase							147.0	155.0	152.0					12																	38710827		2203	4300	6503	SO:0001819	synonymous_variant	144245	0	0					g.chr12:38710827G>A	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.132G>A	chr12.hg19:g.38710827G>A		0					ALG10B_ENST00000551464.1_Silent_p.Q44Q	p.Q44Q	NM_001013620.3	NP_001013642.1	1	2	3	2.002308	Q5I7T1	AG10B_HUMAN		1	448	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	B2RPF4	Silent	SNP	ENST00000308742.4	1	1	hg19	c.132G>A	CCDS31772.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	1	0	1		2	2	2	0		0	0	252		252	246	1	2.060000	-20.000000	1	0.170000	NM_001013620			217	215		1022	993	0		1	1		0	0	252	0		1	7.663835e-01	0	4	0	11	0	217	1022
ALG10B	144245	broad.mit.edu	37	12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	436					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)			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)				CCCACATCCAGACTTGTTTGT	0.348																																						ENST00000308742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1306-1308)aGa>aAa		ALG10B, alpha-1,2-glucosyltransferase							190.0	187.0	188.0					12																	38714900		2203	4299	6502	SO:0001583	missense	144245	0	0					g.chr12:38714900G>A	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.1307G>A	chr12.hg19:g.38714900G>A	ENSP00000310120:p.Arg436Lys	0					ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	p.R436K	NM_001013620.3	NP_001013642.1	1	2	3	2.002308	Q5I7T1	AG10B_HUMAN		3	1623	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	1	1	hg19	c.1307G>A	CCDS31772.1	1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336137	0.01287	.	.	ENSG00000175548	ENST00000308742	T	0.30981	1.51	3.49	1.67	0.24075	3.49	1.67	0.24075	.	0.226336	0.50627	N	0.000102	T	0.15349	0.0370	N	0.21583	0.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	.	5.535	0.17005	0.3517:0.0:0.6483:0.0	.	436	Q5I7T1	AG10B_HUMAN	K	436	ENSP00000310120:R436K	ENSP00000310120:R436K	R	+	2	0	0	ALG10B	37001167	37001167	0.962000	0.33011	0.782000	0.31804	0.057000	0.15508	2.340000	0.43974	0.487000	0.27698	0.655000	0.94253	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	0	0	1		2	2	2	0		0	0	178		178	177	1	2.060000	-20.000000	1	0.170000	NM_001013620			157	154		694	683	1		1	1		0	0	178	0		1	8.888195e-01	0	5	0	14	0	157	694
KIF21A	55605	broad.mit.edu	37	12	39711958	39711958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000361418.5	-	29	3840	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000395670.3_Silent_p.S1275S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000547745.1_Intron			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1275					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)			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)				GGCTTGGTGGGGAAGAAGGAG	0.398																																						ENST00000361418.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999787	0.990000	1.000000																										0				86						c.(3823-3825)tcC>tcT		kinesin family member 21A							75.0	81.0	79.0					12																	39711958		2203	4300	6503	SO:0001819	synonymous_variant	55605	0	0					g.chr12:39711958G>A	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.3825C>T	chr12.hg19:g.39711958G>A		0					KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000395670.3_Silent_p.S1275S	p.S1275S			1	2	3	2.002308	Q7Z4S6	KI21A_HUMAN		29	3840	-		Lung NSC(34;0.179)|all_lung(34;0.213)	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	1	1	hg19	c.3825C>T	CCDS53776.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.221971	1	0.170000	NM_017641			43	42		298	288	1		1	1		0	0	72	0		1	6.211106e-01	0	9	0	7	0	43	298
KIF21A	55605	broad.mit.edu	37	12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000361418.5	-	28	3731	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1239					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)			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)				TGTTACAGGAGAAGGCTCTGG	0.338																																						ENST00000361418.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999183	0.990000	1.000000																										0				86						c.(3715-3717)tCt>tAt		kinesin family member 21A							107.0	93.0	98.0					12																	39713771		2201	4300	6501	SO:0001583	missense	55605	0	0					g.chr12:39713771G>T	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.3716C>A	chr12.hg19:g.39713771G>T	ENSP00000354878:p.Ser1239Tyr	0					KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y	p.S1239Y			1	2	3	2.002308	Q7Z4S6	KI21A_HUMAN		28	3731	-		Lung NSC(34;0.179)|all_lung(34;0.213)	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	1	1	hg19	c.3716C>A	CCDS53776.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.771470|4.771470	0.90108|0.90108	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73363	.|-0.66;-0.67;0.1;-0.74;-0.56;-0.73	5.75|5.75	5.75|5.75	0.90469|0.90469	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.49916	.|D	.|0.000138	D|D	0.86826|0.86826	0.6026|0.6026	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;D;D;D	.|0.89917	.|0.946;0.978;0.952;0.978;1.0;1.0	.|P;P;P;P;D;D	.|0.78314	.|0.735;0.804;0.781;0.804;0.991;0.989	D|D	0.87375|0.87375	0.2353|0.2353	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;1203;1239;1226;1239;286	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|Y	587|1226;1239;1239;286;280;1219;1239;1203	.|ENSP00000354851:S1226Y;ENSP00000379029:S1239Y;ENSP00000448792:S280Y;ENSP00000445606:S1219Y;ENSP00000354878:S1239Y;ENSP00000438075:S1203Y	.|ENSP00000344501:S1239Y	L|S	-|-	1|2	0|0	0|0	KIF21A|KIF21A	38000038|38000038	38000038|38000038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.318000|8.318000	0.89990|0.89990	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-19.999840	1	0.170000	NM_017641			13	13		59	55	0		1	1		0	0	24	0		9.995645e-01	9.460008e-01	0	5	0	21	0	13	59
ABCD2	225	broad.mit.edu	37	12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	207	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413																																						ENST00000308666.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(619-621)gAc>gGc		ATP-binding cassette, sub-family D (ALD), member 2							117.0	110.0	112.0					12																	40012798		2203	4300	6503	SO:0001583	missense	225	0	0					g.chr12:40012798T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.620A>G	chr12.hg19:g.40012798T>C	ENSP00000310688:p.Asp207Gly	0						p.D207G	NM_005164.3	NP_005155.1	1	2	3	2.002308	Q9UBJ2	ABCD2_HUMAN		1	755	-			B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	1	1	hg19	c.620A>G	CCDS8734.1	1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729406	0.69074	.	.	ENSG00000173208	ENST00000308666	D	0.99874	-7.39	4.96	4.96	0.65561	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96107	0.9074	9	.	.	.	-9.2221	14.6449	0.68754	0.0:0.0:0.0:1.0	.	207	Q9UBJ2	ABCD2_HUMAN	G	207	ENSP00000310688:D207G	.	D	-	2	0	0	ABCD2	38299065	38299065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.517000	0.81783	1.849000	0.53698	0.455000	0.32223	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_005164			129	128		493	485	1		1	0		0	0	104	0		1	1.122542e-01	0	0	0	3	0	129	493
C12orf40	283461	broad.mit.edu	37	12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	216										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						CCATCACATAAAACTACACGA	0.318																																						ENST00000324616.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999863	0.990000	1.000000																										0				38						c.(646-648)aAa>aCa		chromosome 12 open reading frame 40							75.0	69.0	71.0					12																	40044117		1811	4070	5881	SO:0001583	missense	283461	0	0					g.chr12:40044117A>C	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.647A>C	chr12.hg19:g.40044117A>C	ENSP00000317671:p.Lys216Thr	0					C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T|C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T	p.K216T	NM_001031748.2	NP_001026918.2	1	2	3	2.002308	Q86WS4	CL040_HUMAN		7	801	+			B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	1	1	hg19	c.647A>C	CCDS41770.1	1	.	.	.	.	.	.	.	.	.	.	A	7.345	0.621738	0.14193	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.34	0.29019	3.53	2.34	0.29019	.	1.135250	0.06734	N	0.777242	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.27331	-1.0077	10	0.62326	D	0.03	.	7.0939	0.25299	0.7708:0.2292:0.0:0.0	.	216	Q86WS4	CL040_HUMAN	T	216;139;216	ENSP00000383897:K216T;ENSP00000317671:K216T	ENSP00000317671:K216T	K	+	2	0	0	C12orf40	38330384	38330384	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.391000	0.20784	0.688000	0.31529	0.528000	0.53228	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_173599			17	17		72	72	1		1			0	0	52	0		9.999819e-01	0	0	0	0	0	0	17	72
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			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)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)																												ENST00000280871.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1432-1434)Gca>Tca		solute carrier family 2 (facilitated glucose transporter), member 13							103.0	98.0	100.0					12																	40223918		2203	4300	6503	SO:0001583	missense	114134	0	0					g.chr12:40223918C>A	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.1432G>T	chr12.hg19:g.40223918C>A	ENSP00000280871:p.Ala478Ser	0	HNSCC(50;0.14)					p.A478S	NM_052885.3	NP_443117.3	1	2	3	2.002308	Q96QE2	MYCT_HUMAN		7	1482	-		Lung NSC(34;0.105)|all_lung(34;0.123)	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	1	1	hg19	c.1432G>T	CCDS8736.2	1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430936	0.25726	.	.	ENSG00000151229	ENST00000280871	T	0.81415	-1.49	5.72	5.72	0.89469	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	N	0.000010	T	0.71417	0.3337	L	0.38175	1.15	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.66380	-0.5938	10	0.02654	T	1	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	S	478	ENSP00000280871:A478S	ENSP00000280871:A478S	A	-	1	0	0	SLC2A13	38510185	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2	0	0	1		16	6	2	1		1	1	53		53	53	1	2.060000	-20.000000	1	0.170000				45	44		204	199	1		1	1		1	0	53	0		9.999757e-01	9.416767e-01	0	15	0	41	0	45	204
SLC2A13	114134	broad.mit.edu	37	12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	163					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			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)				GCCAGCACCGCGGAGCCGGCG	0.741										HNSCC(50;0.14)																												ENST00000280871.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998939	0.990000	1.000000																										0				29						c.(487-489)Gcg>Acg		solute carrier family 2 (facilitated glucose transporter), member 13							7.0	9.0	8.0					12																	40499124		2136	4185	6321	SO:0001583	missense	114134	1	118798	25				g.chr12:40499124C>T	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.487G>A	chr12.hg19:g.40499124C>T	ENSP00000280871:p.Ala163Thr	0	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	p.A163T	NM_052885.3	NP_443117.3	1	2	3	2.002308	Q96QE2	MYCT_HUMAN		1	537	-		Lung NSC(34;0.105)|all_lung(34;0.123)	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	0	1	hg19	c.487G>A	CCDS8736.2	1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419577	0.62622	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.60299	0.2;0.2	3.5	1.63	0.23807	3.5	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.623406	0.15357	N	0.266630	T	0.45816	0.1361	L	0.39467	1.215	0.29254	N	0.871781	P;P	0.47545	0.539;0.897	B;B	0.40444	0.329;0.329	T	0.43653	-0.9378	10	0.66056	D	0.02	-0.7911	9.3766	0.38286	0.0:0.8243:0.0:0.1757	.	163;163	Q96QE2;E9PE47	MYCT_HUMAN;.	T	163	ENSP00000280871:A163T;ENSP00000370239:A163T	ENSP00000280871:A163T	A	-	1	0	0	SLC2A13	38785391	38785391	0.868000	0.29978	0.962000	0.40283	0.910000	0.53928	0.216000	0.17585	0.202000	0.20498	0.462000	0.41574	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-19.999930	1	0.170000				13	13		62	62	0		1	1		0	0	10	0		9.996984e-01	4.369806e-01	0	2	0	6	0	13	62
LRRK2	120892	broad.mit.edu	37	12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					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.M257V(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)				GGTGGAAGCTATGAAAGCATT	0.363																																						ENST00000298910.7	1.000000	0.280000	5.800000e-01	3.600000e-01	0.450000	0.494375	0.450000	0.440000																										2	Substitution - Missense(2)	p.M257V(2)	lung(2)	181						c.(769-771)Atg>Gtg		leucine-rich repeat kinase 2							191.0	177.0	182.0					12																	40637414		2203	4300	6503	SO:0001583	missense	120892	0	0					g.chr12:40637414A>G	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.769A>G	chr12.hg19:g.40637414A>G	ENSP00000298910:p.Met257Val	0					LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	p.M257V	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		7	827	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	1	hg19	c.769A>G	CCDS31774.1	0	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	0	LRRK2	38923681	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	0	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.994336	1	0.170000	XM_058513			22	22		564	546	0		1	0		0	0	109	0		9.999982e-01	3.765814e-02	0	0	0	8	0	22	564
LRRK2	120892	broad.mit.edu	37	12	40653291	40653291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	476					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)			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)				GCAACACTTCCCTGGATATAA	0.418																																						ENST00000298910.7	1.000000	0.740000	1	8.700000e-01	0.990000	0.956328	0.990000	1.000000																										0				181						c.(1426-1428)tcC>tcT		leucine-rich repeat kinase 2							96.0	94.0	95.0					12																	40653291		2203	4300	6503	SO:0001819	synonymous_variant	120892	0	0					g.chr12:40653291C>T	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.1428C>T	chr12.hg19:g.40653291C>T		0					LRRK2_ENST00000343742.2_Silent_p.S476S	p.S476S	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		13	1486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	1	1	hg19	c.1428C>T	CCDS31774.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-2.806910	1	0.170000	XM_058513			41	41		436	429	0		1	0		0	0	94	0		1	4.136069e-01	0	0	0	16	0	41	436
LRRK2	120892	broad.mit.edu	37	12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1147					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)			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)				CTATCAGAGAACTTTCTTGAG	0.418																																						ENST00000298910.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				181						c.(3439-3441)aAc>aGc		leucine-rich repeat kinase 2							179.0	193.0	188.0					12																	40693003		2203	4300	6503	SO:0001583	missense	120892	0	0					g.chr12:40693003A>G	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.3440A>G	chr12.hg19:g.40693003A>G	ENSP00000298910:p.Asn1147Ser	0					LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	p.N1147S	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		25	3498	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	1	hg19	c.3440A>G	CCDS31774.1	1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523245	0.44866	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71341	2.3;-0.56	5.29	4.15	0.48705	5.29	4.15	0.48705	.	0.429907	0.26297	N	0.025193	T	0.58977	0.2160	L	0.43152	1.355	0.29182	N	0.876412	B;B	0.24675	0.006;0.109	B;B	0.27170	0.008;0.077	T	0.48293	-0.9048	10	0.09338	T	0.73	.	10.7437	0.46168	0.9253:0.0:0.0747:0.0	.	1147;1147	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1147	ENSP00000341930:N1147S;ENSP00000298910:N1147S	ENSP00000298910:N1147S	N	+	2	0	0	LRRK2	38979270	38979270	1.000000	0.71417	0.637000	0.29366	0.990000	0.78478	5.691000	0.68249	0.846000	0.35142	0.402000	0.26972	AAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000	XM_058513			152	144		623	609	1		1	0		0	0	151	0		1	8.729931e-01	0	0	0	17	0	152	623
LRRK2	120892	broad.mit.edu	37	12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1215					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)			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)				ACCAGGTCCCGCACACTGGAA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18544	0.0		0.001	False		,,,				2504	0.0					ENST00000298910.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				181						c.(3643-3645)Gca>Aca		leucine-rich repeat kinase 2		G	THR/ALA	0,4406		0,0,2203	94.0	95.0	94.0		3643	3.5	0.9	12	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LRRK2	NM_198578.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	1215/2528	40697802	4,13002	2203	4300	6503	SO:0001583	missense	120892	15	121412	43				g.chr12:40697802G>A	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.3643G>A	chr12.hg19:g.40697802G>A	ENSP00000298910:p.Ala1215Thr	0					LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	p.A1215T	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		27	3701	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	1	hg19	c.3643G>A	CCDS31774.1	1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071280	0.36566	0.0	4.65E-4	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72505	0.2;-0.66	5.37	3.51	0.40186	5.37	3.51	0.40186	.	0.410140	0.26116	N	0.026250	T	0.42854	0.1221	N	0.17723	0.515	0.09310	N	1	P;B;P	0.38535	0.635;0.384;0.635	B;B;B	0.27380	0.079;0.038;0.079	T	0.28744	-1.0034	10	0.30854	T	0.27	.	2.0332	0.03534	0.1515:0.1347:0.4361:0.2777	.	1215;1215;1215	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1215	ENSP00000341930:A1215T;ENSP00000298910:A1215T	ENSP00000298910:A1215T	A	+	1	0	0	LRRK2	38984069	38984069	0.000000	0.05858	0.892000	0.35008	0.973000	0.67179	0.349000	0.20055	0.726000	0.32339	0.557000	0.71058	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-2.945302	1	0.170000	XM_058513			78	78		306	302	1		1	0		0	0	74	0		1	9.865648e-01	0	0	0	29	0	78	306
LRRK2	120892	broad.mit.edu	37	12	40702280	40702280	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40702280A>C	ENST00000298910.7	+	29	4029	c.3971A>C	c.(3970-3972)cAg>cCg	p.Q1324P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1324					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)			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)				TTTCTTCAACAGCGATTAAAA	0.318																																						ENST00000298910.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				181						c.(3970-3972)cAg>cCg		leucine-rich repeat kinase 2							41.0	43.0	42.0					12																	40702280		2203	4298	6501	SO:0001583	missense	120892	0	0					g.chr12:40702280A>C	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.3971A>C	chr12.hg19:g.40702280A>C	ENSP00000298910:p.Gln1324Pro	0						p.Q1324P	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		29	4029	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	0	hg19	c.3971A>C	CCDS31774.1	1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724007	0.68959	.	.	ENSG00000188906	ENST00000298910	T	0.73047	-0.71	5.56	4.37	0.52481	5.56	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.981	T	0.76421	-0.2965	10	0.62326	D	0.03	.	11.9799	0.53113	0.8706:0.0:0.0:0.1294	.	1324;1324	Q17RV3;Q5S007	.;LRRK2_HUMAN	P	1324	ENSP00000298910:Q1324P	ENSP00000298910:Q1324P	Q	+	2	0	0	LRRK2	38988547	38988547	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	6.860000	0.75473	2.101000	0.63845	0.477000	0.44152	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	XM_058513			35	35		145	142	0		1	0		0	0	40	0		1	9.399832e-01	0	0	0	22	0	35	145
LRRK2	120892	broad.mit.edu	37	12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1477	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				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)			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)				CTGAATAAGCGAGGGTTCCCT	0.453																																						ENST00000298910.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				181						c.(4429-4431)cGa>cAa		leucine-rich repeat kinase 2							185.0	179.0	181.0					12																	40704345		2203	4300	6503	SO:0001583	missense	120892	1	121412	37				g.chr12:40704345G>A	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.4430G>A	chr12.hg19:g.40704345G>A	ENSP00000298910:p.Arg1477Gln	0						p.R1477Q	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		31	4488	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	1	hg19	c.4430G>A	CCDS31774.1	1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525058	0.44969	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.53	5.53	0.82687	5.53	5.53	0.82687	ROC GTPase (1);	0.147080	0.47455	D	0.000223	T	0.63616	0.2526	L	0.29908	0.895	0.29304	N	0.868489	B;P	0.35908	0.338;0.527	B;B	0.15484	0.009;0.013	T	0.59247	-0.7490	10	0.13470	T	0.59	.	12.7605	0.57361	0.075:0.0:0.925:0.0	.	1477;1477	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1477	ENSP00000298910:R1477Q	ENSP00000298910:R1477Q	R	+	2	0	0	LRRK2	38990612	38990612	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.642000	0.61383	2.597000	0.87782	0.650000	0.86243	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	0	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-3.083450	1	0.170000	XM_058513			149	150		720	707	1		1	0		0	0	175	0		1	9.636478e-01	0	0	0	28	0	149	720
LRRK2	120892	broad.mit.edu	37	12	40745515	40745515	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40745515A>G	ENST00000298910.7	+	44	6614	c.6556A>G	c.(6556-6558)Act>Gct	p.T2186A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2186					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)			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)				TGACTTAAATACTGAAGGATA	0.373																																						ENST00000298910.7	1.000000	0.590000	1	7.700000e-01	0.990000	0.915383	0.990000	1.000000																										0				181						c.(6556-6558)Act>Gct		leucine-rich repeat kinase 2							70.0	75.0	74.0					12																	40745515		2203	4300	6503	SO:0001583	missense	120892	0	0					g.chr12:40745515A>G	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.6556A>G	chr12.hg19:g.40745515A>G	ENSP00000298910:p.Thr2186Ala	0						p.T2186A	NM_198578.3	NP_940980	1	2	3	2.002308	Q5S007	LRRK2_HUMAN		44	6614	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	1	0	hg19	c.6556A>G	CCDS31774.1	1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409497	0.42715	.	.	ENSG00000188906	ENST00000298910	T	0.72167	-0.63	6.06	3.62	0.41486	6.06	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.488214	0.24544	N	0.037605	T	0.61060	0.2317	L	0.55481	1.735	0.30425	N	0.777732	B;B	0.16166	0.016;0.016	B;B	0.13407	0.009;0.009	T	0.58769	-0.7578	10	0.42905	T	0.14	.	6.0845	0.19960	0.746:0.0:0.1324:0.1216	.	2186;2186	Q17RV3;Q5S007	.;LRRK2_HUMAN	A	2186	ENSP00000298910:T2186A	ENSP00000298910:T2186A	T	+	1	0	0	LRRK2	39031782	39031782	1.000000	0.71417	0.856000	0.33681	0.939000	0.58152	3.658000	0.54482	1.110000	0.41699	0.533000	0.62120	ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-19.989210	1	0.170000	XM_058513			16	16		178	176	0		1	0		0	0	40	0		9.999404e-01	6.889633e-01	0	1	0	27	0	16	178
CNTN1	1272	broad.mit.edu	37	12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	452	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378																																						ENST00000551295.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(1354-1356)Aca>Gca		contactin 1							74.0	74.0	74.0					12																	41333262		2203	4300	6503	SO:0001583	missense	1272	0	0					g.chr12:41333262A>G	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.1354A>G	chr12.hg19:g.41333262A>G	ENSP00000447006:p.Thr452Ala	0					CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A	p.T452A	NM_001843.3	NP_001834.2	1	2	3	2.002308	Q12860	CNTN1_HUMAN		12	1471	+	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)	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	1	1	hg19	c.1354A>G	CCDS8737.1	1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244033	0.39697	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.98	4.98	0.66077	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33189	0.99	0.46167	D	0.998905	B;P;P	0.45396	0.184;0.828;0.857	B;P;P	0.48982	0.101;0.462;0.597	T	0.02966	-1.1088	10	0.08837	T	0.75	.	10.6344	0.45556	0.9235:0.0:0.0765:0.0	.	452;441;452	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	452;452;452;452;452;441	ENSP00000448004:T452A;ENSP00000447006:T452A;ENSP00000448653:T452A;ENSP00000325660:T452A;ENSP00000353213:T452A;ENSP00000261160:T441A	ENSP00000325660:T452A	T	+	1	0	0	CNTN1	39619529	39619529	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	5.584000	0.67490	2.172000	0.68678	0.459000	0.35465	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-19.999990	1	0.170000	NM_001843			45	43		212	203	1		1	0		0	0	40	0		1	9.996334e-01	0	0	0	59	0	45	212
CNTN1	1272	broad.mit.edu	37	12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	695	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)			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)				GCCCAGTATACCATCTAACAG	0.393																																						ENST00000551295.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				90						c.(2083-2085)Cca>Tca		contactin 1							81.0	81.0	81.0					12																	41387041		2203	4300	6503	SO:0001583	missense	1272	0	0					g.chr12:41387041C>T	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.2083C>T	chr12.hg19:g.41387041C>T	ENSP00000447006:p.Pro695Ser	0					CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	p.P695S	NM_001843.3	NP_001834.2	1	2	3	2.002308	Q12860	CNTN1_HUMAN		17	2200	+	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)	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	1	1	hg19	c.2083C>T	CCDS8737.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047596	0.75846	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55234	0.53;0.53;0.53	5.2	5.2	0.72013	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75628	-0.3252	10	0.72032	D	0.01	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	684;695	Q12860-2;Q12860	.;CNTN1_HUMAN	S	695;695;684	ENSP00000447006:P695S;ENSP00000325660:P695S;ENSP00000261160:P684S	ENSP00000325660:P695S	P	+	1	0	0	CNTN1	39673308	39673308	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.471000	0.66762	2.576000	0.86940	0.555000	0.69702	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001843			37	37		209	205	1		1	0		0	0	61	0		1	9.906804e-01	0	0	0	44	0	37	209
CNTN1	1272	broad.mit.edu	37	12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			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)				TGATACTGGCCGATATGTCCA	0.403																																						ENST00000551295.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(2296-2298)Cga>Tga		contactin 1							136.0	117.0	123.0					12																	41410595		2203	4300	6503	SO:0001587	stop_gained	1272	0	0					g.chr12:41410595C>T	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.2296C>T	chr12.hg19:g.41410595C>T	ENSP00000447006:p.Arg766*	0					CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR	p.R766*	NM_001843.3	NP_001834.2	1	2	3	2.002308	Q12860	CNTN1_HUMAN		19	2413	+	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)	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	0	1	hg19	c.2296C>T	CCDS8737.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.832891	0.97003	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	.	.	.	5.35	-2.88	0.05682	5.35	-2.88	0.05682	.	0.113585	0.64402	D	0.000013	.	.	.	.	.	.	0.22911	N	0.998577	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8613	0.52467	0.5695:0.3721:0.0:0.0583	.	.	.	.	X	766;766;755	.	ENSP00000325660:R766X	R	+	1	2	2	CNTN1	39696862	39696862	0.819000	0.29175	0.027000	0.17364	0.453000	0.32348	1.290000	0.33319	-0.637000	0.05516	-0.262000	0.10625	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-3.007478	1	0.170000	NM_001843			85	84		362	356	1		1	0		0	0	107	0		1	9.999467e-01	0	0	0	63	0	85	362
CNTN1	1272	broad.mit.edu	37	12	41414236	41414236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	839	Fibronectin type-III 3. {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)			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)				TAGTGGAAAGCTATCAGGTAC	0.313																																						ENST00000551295.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				90						c.(2515-2517)agC>agT		contactin 1							43.0	46.0	45.0					12																	41414236		2203	4293	6496	SO:0001819	synonymous_variant	1272	0	0					g.chr12:41414236C>T	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.2517C>T	chr12.hg19:g.41414236C>T		0					CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR	p.S839S	NM_001843.3	NP_001834.2	1	2	3	2.002308	Q12860	CNTN1_HUMAN		20	2634	+	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)	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	1	1	hg19	c.2517C>T	CCDS8737.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_001843			31	31		151	149	1		1	0		0	0	30	0		1	9.972023e-01	0	0	0	48	0	31	151
PDZRN4	29951	broad.mit.edu	37	12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000402685.2	+	4	1052	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.K88N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	348							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				CTCTGGCCAAGCTTCGTCCAC	0.488																																						ENST00000402685.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1042-1044)aaG>aaT		PDZ domain containing ring finger 4							165.0	138.0	147.0					12																	41900458		2203	4300	6503	SO:0001583	missense	29951	0	0					g.chr12:41900458G>T	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.1044G>T	chr12.hg19:g.41900458G>T	ENSP00000384197:p.Lys348Asn	0					PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.K88N	p.K348N	NM_001164595.1	NP_001158067.1	1	2	3	2.002308	Q6ZMN7	PZRN4_HUMAN		4	1052	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	1	1	hg19	c.1044G>T	CCDS53777.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702531	0.48307	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.66;3.66	5.08	1.88	0.25563	5.08	1.88	0.25563	.	3.044700	0.01135	N	0.006067	D	0.87273	0.6136	M	0.80183	2.485	0.49798	D	0.999824	D;P;P	0.89917	1.0;0.635;0.517	D;B;B	0.73708	0.981;0.347;0.317	T	0.69386	-0.5159	10	0.66056	D	0.02	-39.6877	10.0306	0.42099	0.4541:0.0:0.5459:0.0	.	348;88;90	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	348;90;88	ENSP00000384197:K348N;ENSP00000439990:K90N;ENSP00000298919:K88N	ENSP00000298919:K88N	K	+	3	2	2	PDZRN4	40186725	40186725	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	1.398000	0.34554	0.242000	0.21303	-0.251000	0.11542	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_013377			56	57		309	301	1		1			0	0	72	0		1	0	0	0	0	0	0	56	309
PDZRN4	29951	broad.mit.edu	37	12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000402685.2	+	7	1345	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R186Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				AAAGACGGCCGGATTCGAGAA	0.398													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17633	0.0		0.0	False		,,,				2504	0.0					ENST00000402685.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1336-1338)cGg>cAg		PDZ domain containing ring finger 4		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	154.0	149.0	151.0		1337,563	4.3	0.9	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	446/1037,188/779	41949534	1,13005	2203	4300	6503	SO:0001583	missense	29951	20	121412	47				g.chr12:41949534G>A	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.1337G>A	chr12.hg19:g.41949534G>A	ENSP00000384197:p.Arg446Gln	0					PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R186Q	p.R446Q	NM_001164595.1	NP_001158067.1	1	2	3	2.002308	Q6ZMN7	PZRN4_HUMAN		7	1345	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	1	1	hg19	c.1337G>A	CCDS53777.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.177813	0.94846	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.16	4.26	0.50523	5.16	4.26	0.50523	PDZ/DHR/GLGF (4);	0.087075	0.48767	N	0.000177	T	0.62539	0.2436	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.97	T	0.66492	-0.5910	10	0.87932	D	0	-15.3825	14.1885	0.65623	0.0732:0.0:0.9268:0.0	.	446;186;188	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	446;188;186	ENSP00000384197:R446Q;ENSP00000439990:R188Q;ENSP00000298919:R186Q	ENSP00000298919:R186Q	R	+	2	0	0	PDZRN4	40235801	40235801	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	7.891000	0.87319	1.489000	0.48450	0.650000	0.86243	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.751872	1	0.170000	NM_013377			94	92		478	473	1		1	0		0	0	103	0		1	0	0	0	0	1	0	94	478
GXYLT1	283464	broad.mit.edu	37	12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	239					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368																																						ENST00000398675.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(715-717)aCa>aTa		glucoside xylosyltransferase 1							93.0	87.0	89.0					12																	42499768		1854	4102	5956	SO:0001583	missense	283464	1	120810	28				g.chr12:42499768G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.716C>T	chr12.hg19:g.42499768G>A	ENSP00000381666:p.Thr239Ile	0					GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	p.T239I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	1	2	3	2.002308	Q4G148	GXLT1_HUMAN		5	948	-			B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	1	1	hg19	c.716C>T	CCDS41772.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655056	0.88056	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.090831	0.85682	D	0.000000	T	0.61489	0.2351	M	0.78916	2.43	0.58432	D	0.999994	P;P	0.49090	0.9;0.919	P;P	0.52598	0.578;0.703	T	0.61322	-0.7086	10	0.54805	T	0.06	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	208;239	Q4G148-2;Q4G148	.;GXLT1_HUMAN	I	239;208	ENSP00000381666:T239I;ENSP00000280876:T208I	ENSP00000280876:T208I	T	-	2	0	0	GXYLT1	40786035	40786035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.533000	0.67160	2.885000	0.99019	0.655000	0.94253	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	XM_290597			78	77		271	266	1		1	1		0	0	58	0		1	9.982819e-01	0	7	0	29	0	78	271
ZCRB1	85437	broad.mit.edu	37	12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353																																						ENST00000266529.3	1.000000	0.290000	8.500000e-01	4.200000e-01	0.600000	0.630282	0.600000	1.000000																										0				8						c.(598-600)cGc>cAc		zinc finger CCHC-type and RNA binding motif 1							139.0	123.0	129.0					12																	42706924		2203	4300	6503	SO:0001583	missense	85437	1	121406	30				g.chr12:42706924C>T	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.599G>A	chr12.hg19:g.42706924C>T	ENSP00000266529:p.Arg200His	0					ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H|PPHLN1_ENST00000549190.1_Intron	p.R200H	NM_033114.3	NP_149105.3	1	2	3	2.002308	Q8TBF4	ZCRB1_HUMAN		8	782	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	1	1	hg19	c.599G>A	CCDS8740.1	0	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506193	0.85282	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.51817	2.45;0.69	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.098903	0.64402	D	0.000002	T	0.59569	0.2203	L	0.59436	1.845	0.47476	D	0.999437	D	0.71674	0.998	P	0.52710	0.707	T	0.63084	-0.6716	10	0.72032	D	0.01	-7.2678	19.3636	0.94453	0.0:1.0:0.0:0.0	.	200	Q8TBF4	ZCRB1_HUMAN	H	200;159	ENSP00000266529:R200H;ENSP00000446732:R159H	ENSP00000266529:R200H	R	-	2	0	0	ZCRB1	40993191	40993191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.573000	0.86826	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-4.363339	1	0.170000	NM_033114			9	9		179	177	0		1	1		0	0	28	0		9.942889e-01	9.999727e-01	0	31	0	434	0	9	179
PRICKLE1	144165	broad.mit.edu	37	12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	156	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)			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)		GAAACAGACAAAACAGGATGG	0.483																																						ENST00000455697.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(466-468)tTt>tCt		prickle homolog 1 (Drosophila)							91.0	90.0	90.0					12																	42862549		2203	4300	6503	SO:0001583	missense	144165	1	121412	31				g.chr12:42862549A>G	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.467T>C	chr12.hg19:g.42862549A>G	ENSP00000401060:p.Phe156Ser	0					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|RP11-328C8.4_ENST00000547824.1_RNA	p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	1	2	3	2.002308	Q96MT3	PRIC1_HUMAN		5	752	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	1	1	hg19	c.467T>C	CCDS8742.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.193653	0.94960	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.22	5.56	5.56	0.83823	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-16.4253	16.0092	0.80385	1.0:0.0:0.0:0.0	.	156	Q96MT3	PRIC1_HUMAN	S	156	ENSP00000401060:F156S;ENSP00000398947:F156S;ENSP00000448359:F156S;ENSP00000345064:F156S;ENSP00000449819:F156S;ENSP00000447870:F156S	ENSP00000345064:F156S	F	-	2	0	0	PRICKLE1	41148816	41148816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000				66	66		271	268	1		1	1	1	0	0	59	697		1	9.719853e-01	1	2	141	24	646	66	271
ADAMTS20	80070	broad.mit.edu	37	12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1578	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)			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)		TTGGATGTAAGAGATATGGTT	0.373																																						ENST00000389420.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				95						c.(4732-4734)Ctt>Att		ADAM metallopeptidase with thrombospondin type 1 motif, 20							146.0	134.0	138.0					12																	43777426		2203	4300	6503	SO:0001583	missense	80070	0	0					g.chr12:43777426G>T	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.4732C>A	chr12.hg19:g.43777426G>T	ENSP00000374071:p.Leu1578Ile	0						p.L1578I	NM_025003.3	NP_079279.3	1	2	3	2.002308	P59510	ATS20_HUMAN		31	4731	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	1	1	hg19	c.4732C>A	CCDS31778.2	1	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599366	0.03744	.	.	ENSG00000173157	ENST00000389420	T	0.58797	0.31	4.7	2.8	0.32819	4.7	2.8	0.32819	.	0.702414	0.12233	N	0.487297	T	0.49115	0.1538	L	0.46157	1.445	0.54753	D	0.999988	B	0.27068	0.167	B	0.22601	0.04	T	0.35475	-0.9787	10	0.36615	T	0.2	.	11.2882	0.49234	0.0:0.2552:0.6129:0.1319	.	1578	P59510	ATS20_HUMAN	I	1578	ENSP00000374071:L1578I	ENSP00000374071:L1578I	L	-	1	0	0	ADAMTS20	42063693	42063693	0.905000	0.30787	0.291000	0.24904	0.014000	0.08584	0.870000	0.28010	0.623000	0.30267	0.655000	0.94253	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.294373	1	0.170000	NM_025003			28	28		140	138	1		1			0	0	37	0		1	0	0	0	0	0	0	28	140
ADAMTS20	80070	broad.mit.edu	37	12	43821235	43821235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43821235G>T	ENST00000389420.3	-	27	3982	c.3983C>A	c.(3982-3984)gCt>gAt	p.A1328D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1328	TSP type-1 9. {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)			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)		GCAGACCACAGCCCTATGCTG	0.473																																						ENST00000389420.3	1.000000	0.710000	1	9.300000e-01	0.990000	0.969498	0.990000	1.000000																										0				95						c.(3982-3984)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							103.0	78.0	86.0					12																	43821235		2203	4300	6503	SO:0001583	missense	80070	0	0					g.chr12:43821235G>T	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.3983C>A	chr12.hg19:g.43821235G>T	ENSP00000374071:p.Ala1328Asp	0					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D	p.A1328D	NM_025003.3	NP_079279.3	1	2	3	2.002308	P59510	ATS20_HUMAN		27	3982	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	0	1	hg19	c.3983C>A	CCDS31778.2	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157116	0.57259	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.64;0.64;0.14	4.72	-1.94	0.07571	4.72	-1.94	0.07571	.	0.744776	0.11477	N	0.560154	T	0.49932	0.1586	N	0.21282	0.65	0.38356	D	0.944463	B;P	0.38473	0.11;0.633	B;P	0.48770	0.155;0.589	T	0.50980	-0.8763	10	0.41790	T	0.15	.	9.9186	0.41450	0.6293:0.0:0.3707:0.0	.	1328;446	P59510;E9PBD5	ATS20_HUMAN;.	D	1328;458;446;1328;1328	ENSP00000374071:A1328D;ENSP00000447427:A458D;ENSP00000378911:A446D;ENSP00000448341:A1328D	ENSP00000374068:A1328D	A	-	2	0	0	ADAMTS20	42107502	42107502	0.999000	0.42202	0.265000	0.24526	0.885000	0.51271	2.340000	0.43974	-0.435000	0.07264	-0.312000	0.09012	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	0	0		14	2	2	1		1	1	40		40	40	1	2.060000	-19.999480	1	0.170000	NM_025003			16	16		145	145	0		1			1	0	40	0		7.109679e-01	0	0	0	0	0	0	16	145
ADAMTS20	80070	broad.mit.edu	37	12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G	rs375762593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	332	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		TGAACAAAAGTTCTTTAATGT	0.363																																						ENST00000389420.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				95						c.(994-996)aAc>aCc		ADAM metallopeptidase with thrombospondin type 1 motif, 20		T	THR/ASN	0,4406		0,0,2203	176.0	142.0	153.0		995	3.7	0.9	12		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	65	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging	332/1911	43886389	1,13005	2203	4300	6503	SO:0001583	missense	80070	2	121412	35				g.chr12:43886389T>G	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.995A>C	chr12.hg19:g.43886389T>G	ENSP00000374071:p.Asn332Thr	0					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	p.N332T	NM_025003.3	NP_079279.3	1	2	3	2.002308	P59510	ATS20_HUMAN		6	994	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	1	1	hg19	c.995A>C	CCDS31778.2	1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588289	0.46110	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87179	-2.22;-2.22	4.79	3.65	0.41850	4.79	3.65	0.41850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000058	D	0.92031	0.7475	M	0.88775	2.98	0.80722	D	1	D	0.53885	0.963	P	0.56216	0.794	D	0.92147	0.5725	10	0.72032	D	0.01	.	10.5595	0.45138	0.0:0.0772:0.0:0.9228	.	332	P59510	ATS20_HUMAN	T	332	ENSP00000374071:N332T;ENSP00000448341:N332T	ENSP00000374068:N332T	N	-	2	0	0	ADAMTS20	42172656	42172656	1.000000	0.71417	0.922000	0.36590	0.027000	0.11550	4.622000	0.61240	0.940000	0.37473	0.455000	0.32223	AAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-17.771310	1	0.170000	NM_025003			29	27		136	130	1		1			0	0	30	0		1	0	0	0	0	0	0	29	136
PUS7L	83448	broad.mit.edu	37	12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	195					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			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)		TTTACAACAATTTCACTGTTT	0.323																																						ENST00000416848.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(583-585)Att>Gtt		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							62.0	62.0	62.0					12																	44148466		2203	4299	6502	SO:0001583	missense	83448	0	0					g.chr12:44148466T>C	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.583A>G	chr12.hg19:g.44148466T>C	ENSP00000415899:p.Ile195Val	0					PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V	p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	1	2	3	2.002308	Q9H0K6	PUS7L_HUMAN		2	1071	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	1	1	hg19	c.583A>G	CCDS8743.1	1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226412	0.22542	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24538	1.98;1.98;1.98;1.85	5.08	2.65	0.31530	5.08	2.65	0.31530	Pseudouridine synthase, catalytic domain (1);	0.210827	0.48767	N	0.000162	T	0.12561	0.0305	N	0.17872	0.535	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.13255	-1.0516	10	0.13470	T	0.59	-16.7902	5.653	0.17627	0.0:0.1542:0.143:0.7028	.	195	Q9H0K6	PUS7L_HUMAN	V	195	ENSP00000415899:I195V;ENSP00000343081:I195V;ENSP00000447706:I195V;ENSP00000446865:I195V	ENSP00000343081:I195V	I	-	1	0	0	PUS7L	42434733	42434733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.344000	0.44010	0.450000	0.26774	0.482000	0.46254	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_031292			76	76		249	245	1		1	1		0	0	70	0		1	8.421663e-01	0	6	0	7	0	76	249
IRAK4	51135	broad.mit.edu	37	12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000448290.2	+	4	448	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	126					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)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373																																						ENST00000448290.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(376-378)cCt>cAt		interleukin-1 receptor-associated kinase 4							110.0	99.0	103.0					12																	44166052		2203	4300	6503	SO:0001583	missense	51135	0	0					g.chr12:44166052C>A	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.377C>A	chr12.hg19:g.44166052C>A	ENSP00000390651:p.Pro126His	0					IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	p.P126H	NM_016123.3	NP_057207.2	1	2	3	2.002308	Q9NWZ3	IRAK4_HUMAN		4	448	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	1	1	hg19	c.377C>A	CCDS8744.1	1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591258	0.46214	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77620	-1.07;-1.07;-1.11;-1.11	5.32	4.29	0.51040	5.32	4.29	0.51040	.	0.571871	0.19382	N	0.115633	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	P	0.35821	0.523	B	0.42882	0.401	T	0.67730	-0.5595	10	0.46703	T	0.11	-1.4818	8.1865	0.31341	0.0:0.8597:0.0:0.1403	.	126	Q9NWZ3	IRAK4_HUMAN	H	2;2;126;126;126	ENSP00000408734:P2H;ENSP00000390327:P2H;ENSP00000390651:P126H;ENSP00000446490:P126H	ENSP00000349096:P126H	P	+	2	0	0	IRAK4	42452319	42452319	0.010000	0.17322	0.002000	0.10522	0.009000	0.06853	1.834000	0.39171	1.128000	0.42052	0.655000	0.94253	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.262115	1	0.170000				58	58		283	277	1		1	1		0	0	81	0		1	9.988556e-01	0	10	0	42	0	58	283
TWF1	5756	broad.mit.edu	37	12	44191256	44191256	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site|TWF1_ENST00000552521.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1						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)			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)		TATCTATTTCCTGCCAATAAG	0.299																																						ENST00000395510.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998625	0.990000	1.000000																										0				14						c.e7-1		twinfilin actin-binding protein 1							29.0	30.0	29.0					12																	44191256		2200	4294	6494	SO:0001630	splice_region_variant	5756	0	0					g.chr12:44191256C>T	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.610-1G>A	chr12.hg19:g.44191256C>T		0					TWF1_ENST00000548315.1_Splice_Site|TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000552521.1_Splice_Site		NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	1	2	3	2.002308	Q12792	TWF1_HUMAN		7	739	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Splice_Site	SNP	ENST00000395510.2	1	1	hg19		CCDS31780.2	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005480	0.54254	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TWF1	42477523	42477523	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.475000	0.53136	2.435000	0.82474	0.591000	0.81541	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-11.527730	1	0.170000	NM_002822	Intron		19	19		117	117	0		1	0		0	0	38	0		9.999942e-01	2.158273e-02	0	0	0	2	0	19	117
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		GCAAGTCTTGGTGATGTCATT	0.532																																						ENST00000429094.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999099	0.990000	1.000000																										0				65						c.(2308-2310)aCc>aTc		NEL-like 2 (chicken)							129.0	108.0	115.0					12																	44913879		2203	4300	6503	SO:0001583	missense	4753	0	0					g.chr12:44913879G>A	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.2309C>T	chr12.hg19:g.44913879G>A	ENSP00000390680:p.Thr770Ile	0					NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I	p.T770I	NM_001145108.1	NP_001138580.1	1	2	3	2.002308	Q99435	NELL2_HUMAN		19	2813	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	1	1	hg19	c.2309C>T	CCDS8746.1	1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545464	0.65198	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82344	-1.54;-1.52;-1.22;-1.52;-1.54;-1.48;-1.6	5.07	3.96	0.45880	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82416	0.5032	L	0.57536	1.79	0.50313	D	0.999869	B;P;P;P;B	0.45827	0.19;0.738;0.867;0.79;0.311	B;B;P;B;B	0.48030	0.11;0.382;0.564;0.255;0.13	T	0.79455	-0.1796	10	0.19590	T	0.45	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	769;770;722;770;769;793;820	ENSP00000378866:T769I;ENSP00000390680:T770I;ENSP00000449332:T722I;ENSP00000394612:T770I;ENSP00000447927:T769I;ENSP00000327988:T793I;ENSP00000416341:T820I	ENSP00000327988:T793I	T	-	2	0	0	NELL2	43200146	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_006159			36	36		262	258	1		1	0		0	0	60	0		1	7.839015e-01	0	0	0	23	0	36	262
NELL2	4753	broad.mit.edu	37	12	44913995	44913995	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000437801.2_Silent_p.C781C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	731	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		GCAGGGGCCAACAATCAACTT	0.557																																						ENST00000429094.2	1.000000	0.730000	1	9.900000e-01	0.990000	0.977114	0.990000	1.000000																										0				65						c.(2191-2193)tgT>tgC		NEL-like 2 (chicken)							53.0	44.0	47.0					12																	44913995		2203	4300	6503	SO:0001819	synonymous_variant	4753	0	0					g.chr12:44913995A>G	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.2193T>C	chr12.hg19:g.44913995A>G		0					NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000551601.1_Silent_p.C683C	p.C731C	NM_001145108.1	NP_001138580.1	1	2	3	2.002308	Q99435	NELL2_HUMAN		19	2697	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	1	1	hg19	c.2193T>C	CCDS8746.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.430690	1	0.170000	NM_006159			12	12		97	95	1		1	0		0	0	25	0		9.992127e-01	7.198713e-01	0	0	0	22	0	12	97
NELL2	4753	broad.mit.edu	37	12	45105088	45105088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000437801.2_Silent_p.C442C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	392						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		TACAAACTTTGCAACAGCTGT	0.388																																						ENST00000429094.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1174-1176)tgC>tgT		NEL-like 2 (chicken)							114.0	105.0	108.0					12																	45105088		2203	4300	6503	SO:0001819	synonymous_variant	4753	0	0					g.chr12:45105088G>A	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.1176C>T	chr12.hg19:g.45105088G>A		0					NELL2_ENST00000437801.2_Silent_p.C442C|NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000551601.1_Silent_p.C391C	p.C392C	NM_001145108.1	NP_001138580.1	1	2	3	2.002308	Q99435	NELL2_HUMAN		11	1680	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	1	1	hg19	c.1176C>T	CCDS8746.1	1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122990	0.20959	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	.	.	.	.	T	0.76652	0.4017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-14.136	20.0473	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	V	136	.	.	A	-	2	0	0	NELL2	43391355	43391355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.722000	0.93159	0.655000	0.94253	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000	NM_006159			54	51		246	244	1		1	0		0	0	72	0		1	8.355270e-01	0	0	0	17	0	54	246
NELL2	4753	broad.mit.edu	37	12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	132	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		CGGTGACTGCCTGAGCGGTAA	0.468																																						ENST00000429094.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(394-396)Ggc>Agc		NEL-like 2 (chicken)							171.0	153.0	159.0					12																	45173747		2203	4300	6503	SO:0001583	missense	4753	0	0					g.chr12:45173747C>T	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.394G>A	chr12.hg19:g.45173747C>T	ENSP00000390680:p.Gly132Ser	0					NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S	p.G132S	NM_001145108.1	NP_001138580.1	1	2	3	2.002308	Q99435	NELL2_HUMAN		4	898	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	1	1	hg19	c.394G>A	CCDS8746.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302698	0.60195	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	3.67	0.42095	5.5	3.67	0.42095	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);	0.331335	0.34676	N	0.003768	T	0.70002	0.3174	N	0.17082	0.46	0.43740	D	0.996233	B;B;B;B;B;B	0.17038	0.016;0.02;0.016;0.006;0.005;0.011	B;B;B;B;B;B	0.23018	0.043;0.023;0.017;0.029;0.018;0.014	T	0.63541	-0.6614	10	0.25751	T	0.34	-15.9435	12.2547	0.54617	0.0:0.8608:0.0:0.1392	.	155;182;131;132;132;131	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	131;132;131;132;131;155;182;131;132;129	ENSP00000378866:G131S;ENSP00000390680:G132S;ENSP00000449332:G131S;ENSP00000394612:G132S;ENSP00000447927:G131S;ENSP00000327988:G155S;ENSP00000416341:G182S;ENSP00000447085:G132S;ENSP00000447384:G129S	ENSP00000327988:G155S	G	-	1	0	0	NELL2	43460014	43460014	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_006159			115	111		529	520	1		1	1		0	0	120	0		1	4.978511e-01	0	4	0	5	0	115	529
NELL2	4753	broad.mit.edu	37	12	45269691	45269691	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000549027.1_Intron|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000437801.2_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		CCTCtttaaaaataaaaataa	0.448																																						ENST00000429094.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65								NEL-like 2 (chicken)							32.0	39.0	36.0					12																	45269691		2203	4300	6503			4753	0	0					g.chr12:45269691A>C	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.-39T>G	chr12.hg19:g.45269691A>C		0					NELL2_ENST00000437801.2_Intron|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000551601.1_Intron		NM_001145108.1	NP_001138580.1	1	2	3	2.002308	Q99435	NELL2_HUMAN		0	466	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Translation_Start_Site	SNP	ENST00000429094.2	0	1	hg19		CCDS8746.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_006159			65	63		253	248	0		1	1		0	0	52	0		1	2.761211e-01	0	2	0	3	0	65	253
DBX2	440097	broad.mit.edu	37	12	45429866	45429866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473																																						ENST00000332700.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				22						c.(433-435)ccG>ccA		developing brain homeobox 2							63.0	70.0	67.0					12																	45429866		2203	4300	6503	SO:0001819	synonymous_variant	440097	0	0					g.chr12:45429866C>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.435G>A	chr12.hg19:g.45429866C>T		0						p.P145P	NM_001004329.2	NP_001004329.2	1	2	3	2.002308	Q6ZNG2	DBX2_HUMAN		2	606	-	Lung SC(27;0.192)	Lung NSC(34;0.142)		Silent	SNP	ENST00000332700.6	1	1	hg19	c.435G>A	CCDS31781.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	1	0	0		22	2	2	0		0	1	18		18	18	1	2.060000	-15.636000	1	0.170000	NM_001004329			26	26		129	126	1		1			0	0	18	0		7.539197e-01	0	0	0	0	0	0	26	129
ARID2	196528	broad.mit.edu	37	12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000444670.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	280					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)			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)		GGGCATTAACGATATTGAAGG	0.393			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6	1.000000	0.170000	4.300000e-01	2.300000e-01	0.310000	0.361148	0.310000	0.290000				Rec	yes			Rec	yes		12	12q12	12q12	196528	N, S, F	AT rich interactive domain 2				E	E			hepatocellular carcinoma		0				116						c.(838-840)Gat>Aat		AT rich interactive domain 2 (ARID, RFX-like)							146.0	146.0	146.0					12																	46230589		2203	4300	6503	SO:0001583	missense	196528	0	0					g.chr12:46230589G>A		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.838G>A	chr12.hg19:g.46230589G>A	ENSP00000335044:p.Asp280Asn	0					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000444670.1_5'Flank	p.D280N	NM_152641.2	NP_689854.2	1	2	3	2.002308	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	8	1010	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	1	1	hg19	c.838G>A	CCDS31783.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.180385	0.94846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.52754	0.65;0.65	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67047	-0.5769	10	0.72032	D	0.01	-13.3765	20.2009	0.98259	0.0:0.0:1.0:0.0	.	280	Q68CP9	ARID2_HUMAN	N	280;131	ENSP00000335044:D280N;ENSP00000415650:D131N	ENSP00000335044:D280N	D	+	1	0	0	ARID2	44516856	44516856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.969824	1	0.170000	XM_350875			13	13		503	493	1		1	1		0	0	78	0		9.994794e-01	2.253773e-01	0	4	0	29	0	13	503
ARID2	196528	broad.mit.edu	37	12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	474					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)			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)		CCAAGTTCCAGTCATCAAATG	0.403			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		12	12q12	12q12	196528	N, S, F	AT rich interactive domain 2				E	E			hepatocellular carcinoma		0				116						c.(1420-1422)aGt>aAt		AT rich interactive domain 2 (ARID, RFX-like)							176.0	160.0	166.0					12																	46233202		2203	4300	6503	SO:0001583	missense	196528	0	0					g.chr12:46233202G>A		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.1421G>A	chr12.hg19:g.46233202G>A	ENSP00000335044:p.Ser474Asn	0					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	p.S474N	NM_152641.2	NP_689854.2	1	2	3	2.002308	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	11	1593	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	1	1	hg19	c.1421G>A	CCDS31783.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012622	0.35511	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.09	0.249	0.15531	5.09	0.249	0.15531	.	0.491901	0.23801	N	0.044436	T	0.11922	0.0290	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-0.8804	4.9068	0.13802	0.3033:0.2931:0.4036:0.0	.	474;325;474	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	474;325;84	ENSP00000335044:S474N	ENSP00000335044:S474N	S	+	2	0	0	ARID2	44519469	44519469	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.597000	0.24059	0.205000	0.20568	0.655000	0.94253	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	XM_350875			110	108		453	444	1		1	1		0	0	113	0		1	9.973758e-01	0	10	0	29	0	110	453
ARID2	196528	broad.mit.edu	37	12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1593					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)			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)		TTCACAGAACACTCCTATGCC	0.393			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		12	12q12	12q12	196528	N, S, F	AT rich interactive domain 2				E	E			hepatocellular carcinoma		0				116						c.(4777-4779)Act>Gct		AT rich interactive domain 2 (ARID, RFX-like)							64.0	60.0	62.0					12																	46254587		2203	4300	6503	SO:0001583	missense	196528	1	121412	35				g.chr12:46254587A>G		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.4777A>G	chr12.hg19:g.46254587A>G	ENSP00000335044:p.Thr1593Ala	0					ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	p.T1593A	NM_152641.2	NP_689854.2	1	2	3	2.002308	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	16	4949	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	1	1	hg19	c.4777A>G	CCDS31783.1	1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865393	0.51588	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.34072	1.38;1.57	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.157958	0.56097	D	0.000029	T	0.38214	0.1032	L	0.44542	1.39	0.40793	D	0.983272	B;B;B	0.33022	0.394;0.394;0.15	B;B;B	0.37650	0.255;0.12;0.041	T	0.29243	-1.0018	10	0.56958	D	0.05	-15.3707	16.2644	0.82568	1.0:0.0:0.0:0.0	.	1593;1203;1593	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1593;710;710;1444;1203;201	ENSP00000335044:T1593A;ENSP00000388357:T201A	ENSP00000335044:T1593A	T	+	1	0	0	ARID2	44540854	44540854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.244000	0.73946	0.528000	0.53228	ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	XM_350875			44	42		216	207	1		1	1		0	0	40	0		1	9.989787e-01	0	11	0	43	0	44	216
SLC38A1	81539	broad.mit.edu	37	12	46591706	46591706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000398637.5	-	15	1954	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000549049.1_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000549633.1_5'Flank	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	420					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)			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)			CCATACCTACGACTCCAAAAA	0.373																																						ENST00000398637.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1258-1260)gtC>gtT		solute carrier family 38, member 1							97.0	89.0	92.0					12																	46591706		1889	4124	6013	SO:0001819	synonymous_variant	81539	0	0					g.chr12:46591706G>A	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.1260C>T	chr12.hg19:g.46591706G>A		0					SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000549633.1_5'Flank	p.V420V	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	1	2	3	2.002308	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)	15	1954	-	Lung SC(27;0.137)|Renal(347;0.236)		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	1	1	hg19	c.1260C>T	CCDS41774.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-4.046360	1	0.170000				61	60		216	211	1		1	1		0	0	52	0		1	9.999908e-01	0	18	0	46	0	61	216
SLC38A2	54407	broad.mit.edu	37	12	46758265	46758265	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000551374.1_Silent_p.T98T|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	260					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|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)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5	1.000000	0.790000	1	8.800000e-01	0.970000	0.952578	0.970000	1.000000																										0				18						c.(778-780)acC>acA		solute carrier family 38, member 2							263.0	263.0	263.0					12																	46758265		2203	4300	6503	SO:0001819	synonymous_variant	54407	0	0					g.chr12:46758265G>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.780C>A	chr12.hg19:g.46758265G>T		0					SLC38A2_ENST00000551374.1_Silent_p.T98T|SLC38A2_ENST00000547252.1_5'Flank	p.T260T	NM_018976.4	NP_061849.2	1	2	3	2.002308	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	10	1224	-	Lung SC(27;0.192)|Renal(347;0.236)		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	1	1	hg19	c.780C>A	CCDS8749.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1	1	0	1		2	2	2	0		0	0	232		232	230	1	2.060000	-3.221883	1	0.170000				98	97		1096	1074	0		1	1		0	0	232	0		1	1	0	33	0	453	0	98	1096
SLC38A4	55089	broad.mit.edu	37	12	47168916	47168916	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	405					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)			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)					CTAATGTATACACTTTGCTGT	0.438																																						ENST00000447411.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1213-1215)gtG>gtA		solute carrier family 38, member 4							154.0	136.0	142.0					12																	47168916		2203	4300	6503	SO:0001819	synonymous_variant	55089	0	0					g.chr12:47168916C>T	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.1215G>A	chr12.hg19:g.47168916C>T		0					SLC38A4_ENST00000266579.4_Silent_p.V405V	p.V405V	NM_001143824.1	NP_001137296.1	1	2	3	2.002308	Q969I6	S38A4_HUMAN		13	1421	-	Lung SC(27;0.192)|Renal(347;0.236)		A8K553	Silent	SNP	ENST00000447411.1	1	1	hg19	c.1215G>A	CCDS8750.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				83	82		409	402	1		1	0		0	0	80	0		1	6.704808e-01	0	0	0	13	0	83	409
SLC38A4	55089	broad.mit.edu	37	12	47173814	47173814	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						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)			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)					CTTGACATTGCTAAAATGGAA	0.378																																						ENST00000447411.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.e7-1		solute carrier family 38, member 4							109.0	98.0	101.0					12																	47173814		2203	4299	6502	SO:0001630	splice_region_variant	55089	0	0					g.chr12:47173814C>T	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.494-1G>A	chr12.hg19:g.47173814C>T		0					SLC38A4_ENST00000266579.4_Splice_Site		NM_001143824.1	NP_001137296.1	1	2	3	2.002308	Q969I6	S38A4_HUMAN		7	700	-	Lung SC(27;0.192)|Renal(347;0.236)		A8K553	Splice_Site	SNP	ENST00000447411.1	1	1	hg19		CCDS8750.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310032	0.81247	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC38A4	45460081	45460081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000		Intron		74	74		317	312	1		1			0	0	62	0		1	0	0	0	0	0	0	74	317
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	424										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323																																						ENST00000005386.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				16						c.(1270-1272)ccG>ccA		RNA polymerase II associated protein 3							99.0	91.0	94.0					12																	48073291		2203	4300	6503	SO:0001819	synonymous_variant	79657	11	121362	34				g.chr12:48073291C>T	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.1272G>A	chr12.hg19:g.48073291C>T		0					RPAP3_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	p.P424P	NM_024604.2	NP_078880.2	1	2	3	2.002308	Q9H6T3	RPAP3_HUMAN		12	1387	-	Lung SC(27;0.192)		B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	1	1	hg19	c.1272G>A	CCDS8753.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.198844	1	0.170000	NM_024604			30	30		153	148	1		1	1		0	0	34	0		1	9.999311e-01	0	13	0	67	0	30	153
RPAP3	79657	broad.mit.edu	37	12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	342										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338																																						ENST00000005386.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1024-1026)Gcc>Acc		RNA polymerase II associated protein 3							91.0	83.0	86.0					12																	48075569		2203	4299	6502	SO:0001583	missense	79657	0	0					g.chr12:48075569C>T	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.1024G>A	chr12.hg19:g.48075569C>T	ENSP00000005386:p.Ala342Thr	0					RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	p.A342T	NM_024604.2	NP_078880.2	1	2	3	2.002308	Q9H6T3	RPAP3_HUMAN		10	1139	-	Lung SC(27;0.192)		B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	1	1	hg19	c.1024G>A	CCDS8753.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.226288	0.95173	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104094	0.64402	D	0.000003	D	0.89441	0.6716	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.91390	0.5134	10	0.87932	D	0	.	18.4725	0.90779	0.0:1.0:0.0:0.0	.	342;342	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	342;183;342	ENSP00000005386:A342T;ENSP00000401823:A183T;ENSP00000370024:A342T	ENSP00000005386:A342T	A	-	1	0	0	RPAP3	46361836	46361836	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.239000	0.78182	2.689000	0.91719	0.460000	0.39030	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-19.995170	1	0.170000	NM_024604			41	41		207	202	1		1	1		0	0	45	0		1	9.999212e-01	0	13	0	62	0	41	207
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	222					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000422538.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(664-666)caG>caT		endonuclease, polyU-specific							130.0	119.0	123.0					12																	48110168		2203	4300	6503	SO:0001583	missense	8909	0	0					g.chr12:48110168C>A	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.666G>T	chr12.hg19:g.48110168C>A	ENSP00000397679:p.Gln222His	0		OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H	p.Q222H	NM_001172439.1	NP_001165910.1	1	2	3	2.002308	P21128	ENDOU_HUMAN		6	788	-			B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	1	0	hg19	c.666G>T	CCDS53785.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	2	ENDOU	46396435	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.096804	1	0.170000	NM_006025.2			57	53		291	282	1		1	0		0	0	75	0		1	0	0	0	0	1	0	57	291
RAPGEF3	10411	broad.mit.edu	37	12	48134179	48134179	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000449771.2	-	22	2320		c.e22-1		RAPGEF3_ENST00000405493.2_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						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)			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)		CTCCTTGAGGCTGTGAGCAGA	0.582																																						ENST00000449771.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.e22-1		Rap guanine nucleotide exchange factor (GEF) 3							48.0	47.0	47.0					12																	48134179		2203	4300	6503	SO:0001630	splice_region_variant	10411	0	0					g.chr12:48134179C>A	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.2232-1G>T	chr12.hg19:g.48134179C>A		0					RAPGEF3_ENST00000548919.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000405493.2_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site				1	2	3	2.002308	O95398	RPGF3_HUMAN		22	2320	-	Lung SC(27;0.192)		A8K2G5|E7EQC8|O95634|Q8WVN0	Splice_Site	SNP	ENST00000449771.2	1	1	hg19		CCDS41775.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584798	0.65992	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	.	.	.	4.41	4.41	0.53225	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RAPGEF3	46420446	46420446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.472000	0.83506	0.644000	0.83932	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006105	Intron		42	42		193	186	0		1			0	0	35	0		1	0	0	0	0	0	0	42	193
RAPGEF3	10411	broad.mit.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000449771.2	-	15	1634	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	516	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)			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)		CTGTGGCATCGCCGCCTCTCT	0.537																																						ENST00000449771.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1546-1548)Cga>Tga		Rap guanine nucleotide exchange factor (GEF) 3							65.0	61.0	63.0					12																	48141337		2203	4300	6503	SO:0001587	stop_gained	10411	0	0					g.chr12:48141337G>A	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.1546C>T	chr12.hg19:g.48141337G>A	ENSP00000395708:p.Arg516*	0					RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*	p.R516*			1	2	3	2.002308	O95398	RPGF3_HUMAN		15	1634	-	Lung SC(27;0.192)		A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	ENST00000449771.2	0	1	hg19	c.1546C>T	CCDS41775.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	2	RAPGEF3	46427604	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.213646	1	0.170000	NM_006105			58	57		271	263	1		1	0		0	0	74	0		1	8.496829e-01	0	0	0	18	0	58	271
HDAC7	51564	broad.mit.edu	37	12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000427332.2	-	14	1838	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000080059.7_Missense_Mutation_p.R600Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	561	Histone deacetylase.			R -> L (in Ref. 5; BAA91545). {ECO:0000305}.	cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACACTGGCTCCGGAGCCCCCG	0.706																																						ENST00000427332.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				25						c.(1681-1683)cGg>cAg		histone deacetylase 7							10.0	12.0	11.0					12																	48185667		2188	4274	6462	SO:0001583	missense	51564	1	120934	29				g.chr12:48185667C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1682G>A	chr12.hg19:g.48185667C>T	ENSP00000404394:p.Arg561Gln	0					HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R600Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q	p.R561Q			1	2	3	2.002308	Q8WUI4	HDAC7_HUMAN		14	1838	-			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	1	1	hg19	c.1682G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679823|4.679823	0.88542|0.88542	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.18|5.18	4.28|4.28	0.50868|0.50868	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|0.057425	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.35793|0.35793	1.09|1.09	0.45791|0.45791	D|D	0.998671|0.998671	.|B;P;D	.|0.62365	.|0.443;0.688;0.991	.|B;B;B	.|0.43867	.|0.081;0.014;0.434	T|T	0.62110|0.62110	-0.6923|-0.6923	5|10	.|0.48119	.|T	.|0.1	.|.	14.2362|14.2362	0.65929|0.65929	0.1505:0.8495:0.0:0.0|0.1505:0.8495:0.0:0.0	.|.	.|600;583;563	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	R|Q	41|600;563;583;617;561	.|ENSP00000080059:R600Q;ENSP00000351326:R563Q;ENSP00000448532:R583Q;ENSP00000369984:R617Q;ENSP00000404394:R561Q	.|ENSP00000080059:R600Q	G|R	-|-	1|2	0|0	0|0	HDAC7|HDAC7	46471934|46471934	46471934|46471934	0.896000|0.896000	0.30565|0.30565	0.921000|0.921000	0.36526|0.36526	0.984000|0.984000	0.73092|0.73092	2.420000|2.420000	0.44679|0.44679	1.315000|1.315000	0.45114|0.45114	0.558000|0.558000	0.71614|0.71614	GGA|CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000				33	32		140	135	0		1	1		0	0	21	0		1	1	0	24	0	106	0	33	140
HDAC7	51564	broad.mit.edu	37	12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000427332.2	-	12	1492	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000080059.7_Missense_Mutation_p.P485S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	446	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATACCTGAGGGTGCTGCTGG	0.657																																						ENST00000427332.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1336-1338)Cct>Tct		histone deacetylase 7							30.0	33.0	32.0					12																	48188548		2203	4300	6503	SO:0001583	missense	51564	0	0					g.chr12:48188548G>A	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1336C>T	chr12.hg19:g.48188548G>A	ENSP00000404394:p.Pro446Ser	0					HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000080059.7_Missense_Mutation_p.P485S|HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S	p.P446S			1	2	3	2.002308	Q8WUI4	HDAC7_HUMAN		12	1492	-			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	1	1	hg19	c.1336C>T		1	.	.	.	.	.	.	.	.	.	.	G	4.617	0.114730	0.08831	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.53206	0.64;0.64;0.65;0.63;0.65	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.653207	0.14765	N	0.299758	T	0.27027	0.0662	N	0.08118	0	0.20307	N	0.999919	B;B;B	0.17852	0.024;0.007;0.011	B;B;B	0.17433	0.018;0.012;0.013	T	0.07597	-1.0764	10	0.11485	T	0.65	.	12.9805	0.58562	0.0:0.0:0.8377:0.1623	.	485;468;448	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	S	485;448;468;502;446	ENSP00000080059:P485S;ENSP00000351326:P448S;ENSP00000448532:P468S;ENSP00000369984:P502S;ENSP00000404394:P446S	ENSP00000080059:P485S	P	-	1	0	0	HDAC7	46474815	46474815	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	6.763000	0.74955	2.418000	0.82041	0.563000	0.77884	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000				48	47		225	224	1		1	1		0	0	54	0		1	9.999991e-01	0	21	0	80	0	48	225
HDAC7	51564	broad.mit.edu	37	12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000427332.2	-	12	1352	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000080059.7_Missense_Mutation_p.R438Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	399	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGCCGCAGCCGGGGCTTCTC	0.687																																						ENST00000427332.2	1.000000	0.150000	3.600000e-01	2.000000e-01	0.260000	0.320179	0.260000	0.260000																										0				25						c.(1195-1197)cGg>cAg		histone deacetylase 7							49.0	58.0	55.0					12																	48188688		2202	4299	6501	SO:0001583	missense	51564	1	121402	32				g.chr12:48188688C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1196G>A	chr12.hg19:g.48188688C>T	ENSP00000404394:p.Arg399Gln	0					HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R438Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q	p.R399Q			1	2	3	2.002308	Q8WUI4	HDAC7_HUMAN		12	1352	-			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	1	1	hg19	c.1196G>A		0	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397265	0.83120	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.42;0.33;0.43;0.4;0.44	4.5	3.57	0.40892	4.5	3.57	0.40892	.	0.664644	0.13526	N	0.381323	T	0.71056	0.3295	L	0.55481	1.735	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70156	-0.4949	10	0.62326	D	0.03	.	12.8923	0.58078	0.1646:0.8354:0.0:0.0	.	438;421;401	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	438;401;421;455;399	ENSP00000080059:R438Q;ENSP00000351326:R401Q;ENSP00000448532:R421Q;ENSP00000369984:R455Q;ENSP00000404394:R399Q	ENSP00000080059:R438Q	R	-	2	0	0	HDAC7	46474955	46474955	0.996000	0.38824	0.995000	0.50966	0.970000	0.65996	3.544000	0.53640	1.122000	0.41944	0.563000	0.77884	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	0	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-2.825764	1	0.170000				17	17		756	744	0		1	1		0	0	110	0		9.999597e-01	5.702688e-01	0	2	0	82	0	17	756
VDR	7421	broad.mit.edu	37	12	48238712	48238712	+	Silent	SNP	G	G	A	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000395324.2	-	10	1369	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000229022.3_Silent_p.I367I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	367	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|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 vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632																																						ENST00000395324.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1099-1101)atC>atT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						104.0	113.0	110.0					12																	48238712		2203	4299	6502	SO:0001819	synonymous_variant	7421	0	0					g.chr12:48238712G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1101C>T	chr12.hg19:g.48238712G>A		0					VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000229022.3_Silent_p.I367I	p.I367I			1	2	3	2.002308	P11473	VDR_HUMAN		10	1369	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	1	1	hg19	c.1101C>T	CCDS8757.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000				122	121		594	586	1		1	1		0	0	115	0		1	1	0	41	0	93	0	122	594
TMEM106C	79022	broad.mit.edu	37	12	48359923	48359923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	ENST00000429772.2	+	5	576	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGTGACCAGCCTGTCCAGCCA	0.507																																						ENST00000429772.2	1.000000	0.370000	8.300000e-01	4.800000e-01	0.630000	0.658081	0.630000	0.600000																										0				14						c.(463-465)Ctg>Atg		transmembrane protein 106C							110.0	93.0	99.0					12																	48359923		2203	4300	6503	SO:0001583	missense	79022	0	0					g.chr12:48359923C>A	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.463C>A	chr12.hg19:g.48359923C>A	ENSP00000400471:p.Leu155Met	0					TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M	p.L155M	NM_001143842.1	NP_001137314.1	1	2	3	2.002308	Q9BVX2	T106C_HUMAN		5	576	+		Acute lymphoblastic leukemia(13;0.11)	B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	1	1	hg19	c.463C>A	CCDS8758.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.808750|1.808750	0.31961|0.31961	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	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|.	4.68|4.68	2.85|2.85	0.33270|0.33270	4.68|4.68	2.85|2.85	0.33270|0.33270	.|.	0.083089|.	0.49305|.	D|.	0.000153|.	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.59436|0.59436	1.845|1.845	0.42755|0.42755	D|D	0.993789|0.993789	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.72338|.	0.977;0.962|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.49607|.	T|.	0.09|.	-0.3909|-0.3909	13.7439|13.7439	0.62863|0.62863	0.0:0.8537:0.0:0.1463|0.0:0.8537:0.0:0.1463	.|.	155;155|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	M|H	155;155;19;84;155;155;155;84|41	ENSP00000256686:L155M;ENSP00000446657:L155M;ENSP00000446622:L19M;ENSP00000448268:L84M;ENSP00000449737:L155M;ENSP00000400471:L155M;ENSP00000402705:L155M;ENSP00000447254:L84M|.	ENSP00000256686:L155M|.	L|P	+|+	1|2	2|0	2|0	TMEM106C|TMEM106C	46646190|46646190	46646190|46646190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.709000|0.709000	0.25734|0.25734	0.466000|0.466000	0.27193|0.27193	-0.797000|-0.797000	0.03246|0.03246	CTG|CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.324837	1	0.170000	NM_024056			16	16		294	288	0		1	1		0	0	73	0		9.999286e-01	9.999965e-01	0	35	0	393	0	16	294
COL2A1	1280	broad.mit.edu	37	12	48371104	48371104	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3272C>T	c.(3271-3273)gCt>gTt	p.A1091V	COL2A1_ENST00000337299.6_Splice_Site_p.A1022V|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	1091	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)			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)	GATACTTACAGCTTCTCCTCT	0.632																																						ENST00000380518.3	1.000000	0.130000	4.000000e-01	1.900000e-01	0.270000	0.327733	0.270000	0.260000																										0				64						c.(3271-3273)gCt>gTt		collagen, type II, alpha 1	Collagenase(DB00048)						71.0	83.0	79.0					12																	48371104		2203	4300	6503	SO:0001630	splice_region_variant	1280	0	0					g.chr12:48371104G>A	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.3273+1C>T	chr12.hg19:g.48371104G>A		0					COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.A1022V	p.A1091V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	1	2	3	2.002308	P02458	CO2A1_HUMAN		46	3436	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	ENST00000380518.3	0	1	hg19	c.3272C>T	CCDS41778.1	0	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471800	0.63737	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93488	-3.23;-3.23	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.660669	0.14187	N	0.335623	D	0.90676	0.7075	L	0.38838	1.175	0.33794	D	0.62586	B;B	0.25609	0.13;0.079	B;B	0.21546	0.035;0.015	D	0.90927	0.4787	10	0.62326	D	0.03	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	1022;1091	P02458-1;P02458	.;CO2A1_HUMAN	V	1091;1022;1022	ENSP00000369889:A1091V;ENSP00000338213:A1022V	ENSP00000338213:A1022V	A	-	2	0	0	COL2A1	46657371	46657371	0.974000	0.33945	1.000000	0.80357	0.940000	0.58332	5.290000	0.65661	2.401000	0.81631	0.563000	0.77884	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	0	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-8.364173	1	0.170000	NM_001844	Missense_Mutation		9	9		405	401	0		1			0	0	66	0		9.940758e-01	0	0	0	0	0	0	9	405
COL2A1	1280	broad.mit.edu	37	12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	112					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)			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)	TACATCCTTGATGTCTCCAGG	0.483																																						ENST00000380518.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(334-336)aTc>aCc		collagen, type II, alpha 1	Collagenase(DB00048)						161.0	154.0	156.0					12																	48391959		2203	4300	6503	SO:0001583	missense	1280	0	0					g.chr12:48391959A>G	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.335T>C	chr12.hg19:g.48391959A>G	ENSP00000369889:p.Ile112Thr	0					COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	p.I112T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	1	2	3	2.002308	P02458	CO2A1_HUMAN		4	499	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	1	1	hg19	c.335T>C	CCDS41778.1	1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153460	0.57259	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.93366	-3.21;-3.21	5.04	5.04	0.67666	5.04	5.04	0.67666	.	.	.	.	.	D	0.86867	0.6036	N	0.25286	0.73	0.54753	D	0.999985	P;B	0.36535	0.557;0.421	B;B	0.28305	0.088;0.059	D	0.88114	0.2827	9	0.72032	D	0.01	.	14.0685	0.64847	1.0:0.0:0.0:0.0	.	43;112	P02458-1;P02458	.;CO2A1_HUMAN	T	112;43	ENSP00000369889:I112T;ENSP00000338213:I43T	ENSP00000338213:I43T	I	-	2	0	0	COL2A1	46678226	46678226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.801000	0.91905	2.047000	0.60756	0.454000	0.30748	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_001844			80	79		324	316	1		1			0	0	94	0		1	0	0	0	0	0	0	80	324
PFKM	5213	broad.mit.edu	37	12	48537573	48537573	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48537573C>A	ENST00000312352.7	+	19	1895	c.1856C>A	c.(1855-1857)aCt>aAt	p.T619N	PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000340802.6_Missense_Mutation_p.T690N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	619	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)			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						ATGAAAACAACTGTGAAAAGG	0.383																																						ENST00000312352.7	1.000000	0.230000	5.500000e-01	3.100000e-01	0.410000	0.454266	0.410000	0.390000																										0				35						c.(1855-1857)aCt>aAt		phosphofructokinase, muscle							164.0	152.0	156.0					12																	48537573		2203	4300	6503	SO:0001583	missense	5213	0	0					g.chr12:48537573C>A	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.1856C>A	chr12.hg19:g.48537573C>A	ENSP00000309438:p.Thr619Asn	0					PFKM_ENST00000340802.6_Missense_Mutation_p.T690N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N	p.T619N	NM_001166687.1	NP_001160159.1	1	2	3	2.002308	P08237	PFKAM_HUMAN		19	1895	+			J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	1	1	hg19	c.1856C>A	CCDS8760.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.897081|2.897081	0.52121|0.52121	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000553055|ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.98|4.98	4.98|4.98	0.66077|0.66077	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Phosphofructokinase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69115|0.69115	0.3075|0.3075	N|N	0.11724|0.11724	0.165|0.165	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.10296	.|0.003;0.0;0.001	.|B;B;B	.|0.17722	.|0.019;0.009;0.003	T|T	0.64466|0.64466	-0.6401|-0.6401	5|10	.|0.48119	.|T	.|0.1	-5.2747|-5.2747	18.429|18.429	0.90618|0.90618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;619;690	.|P08237-2;P08237;Q6ZTT1	.|.;K6PF_HUMAN;.	K|N	44|690;619;588;588;619;619	.|ENSP00000345771:T690N;ENSP00000352842:T619N;ENSP00000378656:T588N;ENSP00000448177:T588N;ENSP00000449426:T619N;ENSP00000309438:T619N	.|ENSP00000309438:T619N	N|T	+|+	3|2	2|0	2|0	PFKM|PFKM	46823840|46823840	46823840|46823840	0.395000|0.395000	0.25254|0.25254	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.493000|1.493000	0.35605|0.35605	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	AAC|ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	0	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.575035	1	0.170000	NM_000289			15	15		433	424	0		1	1		0	0	93	0		9.998555e-01	9.846651e-01	0	16	0	184	0	15	433
PFKM	5213	broad.mit.edu	37	12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000312352.7	+	21	2080	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000340802.6_Missense_Mutation_p.A752T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	681	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)			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						TAAGATGGGCGCCAAGGCTAT	0.483																																						ENST00000312352.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				35						c.(2041-2043)Gcc>Acc		phosphofructokinase, muscle							110.0	104.0	106.0					12																	48538862		2203	4300	6503	SO:0001583	missense	5213	4	121412	41				g.chr12:48538862G>A	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.2041G>A	chr12.hg19:g.48538862G>A	ENSP00000309438:p.Ala681Thr	0					PFKM_ENST00000340802.6_Missense_Mutation_p.A752T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T	p.A681T	NM_001166687.1	NP_001160159.1	1	2	3	2.002308	P08237	PFKAM_HUMAN		21	2080	+			J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	1	1	hg19	c.2041G>A	CCDS8760.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665671	0.88251	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.05	5.05	0.67936	5.05	5.05	0.67936	Phosphofructokinase domain (2);	0.109437	0.64402	D	0.000008	D	0.84575	0.5502	M	0.79926	2.475	0.80722	D	1	P;P;D	0.60160	0.556;0.849;0.987	B;B;P	0.47941	0.187;0.375;0.562	D	0.83886	0.0282	10	0.30078	T	0.28	-19.231	18.5901	0.91208	0.0:0.0:1.0:0.0	.	650;681;752	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	752;681;650;650;681;681	ENSP00000345771:A752T;ENSP00000352842:A681T;ENSP00000378656:A650T;ENSP00000448177:A650T;ENSP00000449426:A681T;ENSP00000309438:A681T	ENSP00000309438:A681T	A	+	1	0	0	PFKM	46825129	46825129	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.542000	0.67218	2.793000	0.96121	0.655000	0.94253	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-2.967615	1	0.170000	NM_000289			54	53		324	320	1		1	1		0	0	94	0		1	1	0	48	0	197	0	54	324
H1FNT	341567	broad.mit.edu	37	12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	158	Arg-rich.				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)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716																																						ENST00000335017.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				13						c.(472-474)cGc>cAc		H1 histone family, member N, testis-specific							10.0	11.0	11.0					12																	48723547		2151	4193	6344	SO:0001583	missense	341567	0	0					g.chr12:48723547G>A	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.473G>A	chr12.hg19:g.48723547G>A	ENSP00000334805:p.Arg158His	0						p.R158H	NM_181788.1	NP_861453.1	1	2	3	2.002308	Q75WM6	H1FNT_HUMAN		1	785	+			Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	1	1	hg19	c.473G>A	CCDS8762.1	1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714486	0.48622	.	.	ENSG00000187166	ENST00000335017	T	0.18810	2.19	4.83	-1.92	0.07618	4.83	-1.92	0.07618	.	0.851979	0.09573	N	0.783862	T	0.14399	0.0348	L	0.43152	1.355	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.20739	-1.0266	10	0.52906	T	0.07	-2.4843	6.1284	0.20192	0.238:0.3845:0.3775:0.0	.	158	Q75WM6	H1FNT_HUMAN	H	158	ENSP00000334805:R158H	ENSP00000334805:R158H	R	+	2	0	0	H1FNT	47009814	47009814	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.333000	0.08476	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-3.251467	1	0.170000	NM_181788			17	17		62	62	0		1			0	0	14	0		9.999838e-01	0	0	0	0	0	0	17	62
ZNF641	121274	broad.mit.edu	37	12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q|ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	411					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562																																						ENST00000544117.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1231-1233)cGa>cAa		zinc finger protein 641							91.0	86.0	87.0					12																	48736841		2203	4300	6503	SO:0001583	missense	121274	0	0					g.chr12:48736841C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1232G>A	chr12.hg19:g.48736841C>T	ENSP00000437832:p.Arg411Gln	0					ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q	p.R411Q			1	2	3	2.002308	Q96N77	ZN641_HUMAN		6	1940	-			B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	1	1	hg19	c.1232G>A	CCDS8763.1	1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859147	0.71834	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.66	4.76	0.60689	5.66	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095436	0.47455	D	0.000237	T	0.17492	0.0420	L	0.41415	1.275	0.32144	N	0.585131	P;P	0.44478	0.836;0.496	B;B	0.29716	0.106;0.041	T	0.13229	-1.0517	10	0.07482	T	0.82	.	13.1879	0.59693	0.0:0.918:0.0:0.082	.	388;411	B4DNU5;Q96N77	.;ZN641_HUMAN	Q	411;411;388;397	ENSP00000301042:R411Q;ENSP00000437832:R411Q;ENSP00000394627:R388Q;ENSP00000449974:R397Q	ENSP00000301042:R411Q	R	-	2	0	0	ZNF641	47023108	47023108	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.443000	0.06862	2.824000	0.97209	0.655000	0.94253	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.104250	1	0.170000	NM_152320			103	101		487	475	1		1	1		0	0	119	0		1	9.917473e-01	0	4	0	33	0	103	487
ZNF641	121274	broad.mit.edu	37	12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W|ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W			Q96N77	ZN641_HUMAN	zinc finger protein 641	124	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473																																						ENST00000544117.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(370-372)Cgg>Tgg		zinc finger protein 641							81.0	80.0	80.0					12																	48739206		2203	4300	6503	SO:0001583	missense	121274	0	0					g.chr12:48739206G>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.370C>T	chr12.hg19:g.48739206G>A	ENSP00000437832:p.Arg124Trp	0					ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W	p.R124W			1	2	3	2.002308	Q96N77	ZN641_HUMAN		4	1078	-			B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	1	1	hg19	c.370C>T	CCDS8763.1	1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401740	0.62288	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	5.54	3.57	0.40892	5.54	3.57	0.40892	Krueppel-associated box (4);	0.110597	0.40908	D	0.000997	T	0.08179	0.0204	L	0.61387	1.9	0.40170	D	0.977168	D	0.89917	1.0	D	0.67103	0.949	T	0.03706	-1.1011	10	0.66056	D	0.02	.	8.8763	0.35348	0.0:0.2757:0.5714:0.1529	.	124	Q96N77	ZN641_HUMAN	W	124;124;110;124	ENSP00000301042:R124W;ENSP00000437832:R124W;ENSP00000449974:R110W;ENSP00000448810:R124W	ENSP00000301042:R124W	R	-	1	2	2	ZNF641	47025473	47025473	0.930000	0.31532	1.000000	0.80357	0.999000	0.98932	1.077000	0.30741	1.472000	0.48140	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.187223	1	0.170000	NM_152320			80	79		353	344	1		1	1		0	0	79	0		1	9.917618e-01	0	4	0	31	0	80	353
ADCY6	112	broad.mit.edu	37	12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	965					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552																																						ENST00000307885.4	1.000000	0.730000	1	8.600000e-01	0.990000	0.951262	0.990000	1.000000																										0				29						c.(2893-2895)Cgc>Tgc		adenylate cyclase 6							111.0	87.0	95.0					12																	49165651		2203	4300	6503	SO:0001583	missense	112	14	121412	42				g.chr12:49165651G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2893C>T	chr12.hg19:g.49165651G>A	ENSP00000311405:p.Arg965Cys	0					ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C	p.R965C	NM_015270.3	NP_056085.1	1	2	3	2.002308	O43306	ADCY6_HUMAN		18	3587	-			Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	1	1	hg19	c.2893C>T	CCDS8767.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697873	0.88830	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80909	-1.39;-1.39;-1.43	5.74	5.74	0.90152	5.74	5.74	0.90152	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68943	0.943;0.961;0.886	D	0.92549	0.6048	10	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	196;912;965	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	C	912;912;965	ENSP00000350536:R912C;ENSP00000446730:R912C;ENSP00000311405:R965C	ENSP00000311405:R965C	R	-	1	0	0	ADCY6	47451918	47451918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.884000	0.98904	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.142702	1	0.170000	NM_020983			38	35		408	402	0		1	1		0	0	73	0		1	9.774685e-01	0	7	0	60	0	38	408
ADCY6	112	broad.mit.edu	37	12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	457					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557																																						ENST00000307885.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1369-1371)gCc>gTc		adenylate cyclase 6							170.0	157.0	161.0					12																	49170893		2203	4300	6503	SO:0001583	missense	112	0	0					g.chr12:49170893G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1370C>T	chr12.hg19:g.49170893G>A	ENSP00000311405:p.Ala457Val	0					ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V	p.A457V	NM_015270.3	NP_056085.1	1	2	3	2.002308	O43306	ADCY6_HUMAN		5	2064	-			Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	1	1	hg19	c.1370C>T	CCDS8767.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878374	0.91740	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.87541	0.6203	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.909;0.995	D	0.88938	0.3378	10	0.87932	D	0	.	16.3463	0.83134	0.0:0.0:1.0:0.0	.	457;457	O43306-2;O43306	.;ADCY6_HUMAN	V	457	ENSP00000350536:A457V;ENSP00000446730:A457V;ENSP00000311405:A457V	ENSP00000311405:A457V	A	-	2	0	0	ADCY6	47457160	47457160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.451000	0.82905	0.561000	0.74099	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	1	0	1		2	2	2	0		0	0	224		224	221	1	2.060000	-20.000000	1	0.170000	NM_020983			217	213		772	760	1		1	1		0	0	224	0		1	9.967842e-01	0	7	0	26	0	217	772
RND1	27289	broad.mit.edu	37	12	49255902	49255902	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522																																						ENST00000309739.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.e3-1		Rho family GTPase 1							136.0	116.0	122.0					12																	49255902		2203	4300	6503	SO:0001630	splice_region_variant	27289	0	0					g.chr12:49255902C>A	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.209-1G>T	chr12.hg19:g.49255902C>A		0							NM_014470.3	NP_055285.1	1	2	3	2.002308	Q92730	RND1_HUMAN		3	339	-			A8K9P7	Splice_Site	SNP	ENST00000309739.5	1	1	hg19		CCDS8771.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.058756	0.93846	.	.	ENSG00000172602	ENST00000309739	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RND1	47542169	47542169	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-2.978245	1	0.170000	NM_014470	Intron		33	32		130	128	1		1	1		0	0	42	0		1	2.762359e-01	0	3	0	2	0	33	130
CCDC65	85478	broad.mit.edu	37	12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000320516.4	+	1	206	c.18A>C	c.(16-18)aaA>aaC	p.K6N	CCDC65_ENST00000266984.5_Missense_Mutation_p.K6N|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320516.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(16-18)aaA>aaC		coiled-coil domain containing 65							92.0	101.0	98.0					12																	49298137		2203	4300	6503	SO:0001583	missense	85478	0	0					g.chr12:49298137A>C		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.18A>C	chr12.hg19:g.49298137A>C	ENSP00000312706:p.Lys6Asn	0		OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.K6N	p.K6N	NM_033124.4	NP_149115.2	1	2	3	2.002308	Q8IXS2	CCD65_HUMAN		1	206	+			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	1	1	hg19	c.18A>C	CCDS8772.1	1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338442	0.41398	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.62941	0.79;-0.01;0.85	5.06	1.45	0.22620	5.06	1.45	0.22620	.	0.052686	0.64402	D	0.000001	T	0.61974	0.2390	M	0.71581	2.175	0.38560	D	0.949689	P	0.40731	0.728	P	0.44359	0.447	T	0.63292	-0.6670	10	0.66056	D	0.02	-17.724	8.3444	0.32263	0.6786:0.0:0.3214:0.0	.	6	Q8IXS2	CCD65_HUMAN	N	6	ENSP00000266984:K6N;ENSP00000446569:K6N;ENSP00000312706:K6N	ENSP00000266984:K6N	K	+	3	2	2	CCDC65	47584404	47584404	1.000000	0.71417	0.997000	0.53966	0.136000	0.21042	0.566000	0.23593	0.156000	0.19299	-0.274000	0.10170	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-20.000000	1	0.170000	NM_033124			132	129		670	662	1		1	0		0	0	178	0		1	2.746790e-02	0	0	0	2	0	132	670
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000320516.4	+	5	797		c.e5-1		CCDC65_ENST00000266984.5_Splice_Site|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413																																						ENST00000320516.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.e5-1		coiled-coil domain containing 65							92.0	94.0	93.0					12																	49312057		2203	4300	6503	SO:0001630	splice_region_variant	85478	0	0					g.chr12:49312057G>T		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.610-1G>T	chr12.hg19:g.49312057G>T		0					RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Splice_Site		NM_033124.4	NP_149115.2	1	2	3	2.002308	Q8IXS2	CCD65_HUMAN		5	797	+			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Splice_Site	SNP	ENST00000320516.4	1	1	hg19		CCDS8772.1	1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698104	0.68386	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CCDC65	47598324	47598324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.003000	0.76310	2.677000	0.91161	0.655000	0.94253	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_033124	Intron		73	70		404	395	1		1	0		0	0	85	0		1	2.413883e-02	0	0	0	2	0	73	404
CCDC65	85478	broad.mit.edu	37	12	49312112	49312112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000320516.4	+	5	852	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CCDC65_ENST00000266984.5_Silent_p.L222L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433																																						ENST00000320516.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(664-666)Ctg>Ttg		coiled-coil domain containing 65							125.0	124.0	124.0					12																	49312112		2203	4300	6503	SO:0001819	synonymous_variant	85478	0	0					g.chr12:49312112C>T		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.664C>T	chr12.hg19:g.49312112C>T		0					RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L222L	p.L222L	NM_033124.4	NP_149115.2	1	2	3	2.002308	Q8IXS2	CCD65_HUMAN		5	852	+			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	1	1	hg19	c.664C>T	CCDS8772.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	0		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_033124			106	102		428	417	0		1	0		0	0	122	0		1	3.999917e-02	0	0	0	2	0	106	428
CCDC65	85478	broad.mit.edu	37	12	49314776	49314776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000320516.4	+	7	1278	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CCDC65_ENST00000266984.5_Silent_p.L364L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403																																						ENST00000320516.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				15						c.(1090-1092)Ctg>Ttg		coiled-coil domain containing 65							59.0	64.0	62.0					12																	49314776		2203	4300	6503	SO:0001819	synonymous_variant	85478	0	0					g.chr12:49314776C>T		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.1090C>T	chr12.hg19:g.49314776C>T		0					RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L364L	p.L364L	NM_033124.4	NP_149115.2	1	2	3	2.002308	Q8IXS2	CCD65_HUMAN		7	1278	+			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	1	1	hg19	c.1090C>T	CCDS8772.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_033124			44	44		277	273	1		1	0		0	0	74	0		1	5.361859e-02	0	0	0	3	0	44	277
WNT1	7471	broad.mit.edu	37	12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	56					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582																																						ENST00000293549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(166-168)Gta>Ata		wingless-type MMTV integration site family, member 1							77.0	75.0	76.0					12																	49373312		2203	4300	6503	SO:0001583	missense	7471	0	0					g.chr12:49373312G>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.166G>A	chr12.hg19:g.49373312G>A	ENSP00000293549:p.Val56Ile	0						p.V56I	NM_005430.3	NP_005421.1	1	2	3	2.002308	P04628	WNT1_HUMAN		2	202	+			Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	1	1	hg19	c.166G>A	CCDS8776.1	1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360417	0.24598	.	.	ENSG00000125084	ENST00000293549	T	0.75938	-0.98	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.660669	0.12351	U	0.476582	T	0.56499	0.1989	N	0.08118	0	0.58432	D	0.999994	B	0.20780	0.048	B	0.19666	0.026	T	0.49615	-0.8921	10	0.10636	T	0.68	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	56	P04628	WNT1_HUMAN	I	56	ENSP00000293549:V56I	ENSP00000293549:V56I	V	+	1	0	0	WNT1	47659579	47659579	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.254000	0.78329	2.501000	0.84356	0.655000	0.94253	GTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1	1	0	1		2	2	2	0		0	0	87		87	84	1	2.060000	-20.000000	1	0.170000				92	92		436	430	1		1	0		0	0	87	0		1	0	0	0	0	1	0	92	436
DDN	23109	broad.mit.edu	37	12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	192	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781																																						ENST00000421952.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(574-576)cCc>cTc		dendrin							5.0	7.0	6.0					12																	49392084		1593	3394	4987	SO:0001583	missense	23109	0	0					g.chr12:49392084G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.575C>T	chr12.hg19:g.49392084G>A	ENSP00000390590:p.Pro192Leu	0					RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	p.P192L	NM_015086.1	NP_055901.2	1	2	3	2.002308	O94850	DEND_HUMAN		2	596	-				Missense_Mutation	SNP	ENST00000421952.2	1	1	hg19	c.575C>T	CCDS31791.2	1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063238	0.08388	.	.	ENSG00000181418	ENST00000421952	T	0.40476	1.03	3.56	2.66	0.31614	3.56	2.66	0.31614	.	0.356051	0.20815	N	0.085168	T	0.34106	0.0886	L	0.27053	0.805	0.45161	D	0.998172	P	0.51351	0.944	P	0.47470	0.548	T	0.15954	-1.0419	10	0.72032	D	0.01	-5.7798	9.1059	0.36698	0.0:0.2233:0.7767:0.0	.	192	O94850	DEND_HUMAN	L	192	ENSP00000390590:P192L	ENSP00000390590:P192L	P	-	2	0	0	DDN	47678351	47678351	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.460000	0.35244	1.077000	0.40990	0.561000	0.74099	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.781	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000				28	28		83	81	0		1			0	0	16	0		1	0	0	0	0	0	0	28	83
DHH	50846	broad.mit.edu	37	12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	109					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)			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587																																						ENST00000266991.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(325-327)Gct>Act		desert hedgehog							86.0	67.0	73.0					12																	49485151		2203	4300	6503	SO:0001583	missense	50846	0	0					g.chr12:49485151C>T	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.325G>A	chr12.hg19:g.49485151C>T	ENSP00000266991:p.Ala109Thr	0					RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	p.A109T	NM_021044.2	NP_066382.1	1	2	3	2.002308	O43323	DHH_HUMAN		2	631	-			Q15794	Missense_Mutation	SNP	ENST00000266991.2	1	1	hg19	c.325G>A	CCDS8779.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980759	0.34942	.	.	ENSG00000139549	ENST00000266991	D	0.99418	-5.87	5.12	5.12	0.69794	5.12	5.12	0.69794	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.173927	0.50627	D	0.000109	D	0.96027	0.8706	N	0.00873	-1.125	0.46954	D	0.99926	D	0.67145	0.996	P	0.47705	0.555	D	0.95758	0.8798	10	0.08381	T	0.77	0.4377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	109	O43323	DHH_HUMAN	T	109	ENSP00000266991:A109T	ENSP00000266991:A109T	A	-	1	0	0	DHH	47771418	47771418	0.993000	0.37304	0.998000	0.56505	0.593000	0.36681	1.178000	0.31981	2.564000	0.86499	0.650000	0.86243	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_021044			38	37		162	161	1		1	0		0	0	51	0		1	0	0	0	0	1	0	38	162
DHH	50846	broad.mit.edu	37	12	49488219	49488219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	ENST00000266991.2	-	1	383	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	26					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)			breast(1)|large_intestine(3)|lung(4)	8						cggcccccggcccggcccgcA	0.682																																						ENST00000266991.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999783	0.990000	1.000000																										0				8						c.(76-78)gGc>gAc		desert hedgehog							5.0	7.0	6.0					12																	49488219		1962	3844	5806	SO:0001583	missense	50846	0	0					g.chr12:49488219C>T	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.77G>A	chr12.hg19:g.49488219C>T	ENSP00000266991:p.Gly26Asp	0					RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	p.G26D	NM_021044.2	NP_066382.1	1	2	3	2.002308	O43323	DHH_HUMAN		1	383	-			Q15794	Missense_Mutation	SNP	ENST00000266991.2	0	1	hg19	c.77G>A	CCDS8779.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859706	0.91433	.	.	ENSG00000139549	ENST00000266991	D	0.99727	-6.55	5.15	5.15	0.70609	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97099	0.9796	10	0.87932	D	0	.	17.4475	0.87583	0.0:1.0:0.0:0.0	.	26	O43323	DHH_HUMAN	D	26	ENSP00000266991:G26D	ENSP00000266991:G26D	G	-	2	0	0	DHH	47774486	47774486	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.547000	0.67249	2.422000	0.82143	0.456000	0.33151	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	0	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000	NM_021044			21	19		110	107	0		1			0	0	19	0		9.999980e-01	0	0	0	0	0	0	21	110
TUBA1A	7846	broad.mit.edu	37	12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000295766.5	-	4	1495	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTGGATGGTACGCTTGGTCTT	0.552																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000295766.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1015-1017)cGt>cAt		tubulin, alpha 1a	Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)						114.0	92.0	100.0					12																	49579133		2203	4300	6503	SO:0001583	missense	7846	0	0					g.chr12:49579133C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1016G>A	chr12.hg19:g.49579133C>T	ENSP00000439020:p.Arg339His	0					TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H	p.R339H	NM_001270399.1	NP_001257328.1	1	2	3	2.002308	Q71U36	TBA1A_HUMAN		4	1495	-			A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	1	1	hg19	c.1016G>A	CCDS58227.1	1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086823	0.36855	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.1	5.1	0.69264	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	D	0.84226	0.0464	10	0.87932	D	0	.	17.3657	0.87363	0.0:1.0:0.0:0.0	.	339	Q71U36	TBA1A_HUMAN	H	339;186;339;304	ENSP00000301071:R339H;ENSP00000439020:R339H;ENSP00000446637:R304H	ENSP00000439020:R339H	R	-	2	0	0	TUBA1A	47865400	47865400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.565000	0.67365	2.391000	0.81399	0.556000	0.70494	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	0	0	1		17	21	2	1		1	1	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_006009			89	87		371	362	1		1	0		1	0	93	0		1	1	0	6	0	602	0	89	371
PRPH	5630	broad.mit.edu	37	12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257860.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998796	0.990000	1.000000																										0				12						c.(1168-1170)Gac>Tac		peripherin							32.0	34.0	33.0					12																	49691311		2202	4300	6502	SO:0001583	missense	5630	0	0					g.chr12:49691311G>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1168G>T	chr12.hg19:g.49691311G>T	ENSP00000257860:p.Asp390Tyr	0		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RP11-161H23.9_ENST00000553259.1_RNA	p.D390Y	NM_006262.3	NP_006253.2	1	2	3	2.002308	P23942	PRPH2_HUMAN		6	2667	+			Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	1	1	hg19	c.1168G>T	CCDS8783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.270856|5.270856	0.95429|0.95429	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91740|.	-2.9|.	5.48|5.48	5.48|5.48	0.80851|0.80851	5.48|5.48	5.48|5.48	0.80851|0.80851	Filament (1);|.	0.000000|.	0.35936|.	N|.	0.002898|.	D|D	0.91112|0.91112	0.7202|0.7202	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	P|.	0.41450|.	0.75|.	P|.	0.48738|.	0.588|.	D|D	0.94583|0.94583	0.7781|0.7781	10|5	0.87932|.	D|.	0|.	.|.	18.1164|18.1164	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390|.	P41219|.	PERI_HUMAN|.	Y|V	390|118	ENSP00000257860:D390Y|.	ENSP00000257860:D390Y|.	D|G	+|+	1|2	0|0	0|0	PRPH|PRPH	47977578|47977578	47977578|47977578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.797000|9.797000	0.99108|0.99108	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GAC|GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_006262			37	35		277	271	0		1	1		0	0	64	0		1	2.495790e-01	0	2	0	6	0	37	277
TROAP	10024	broad.mit.edu	37	12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000257909.3	+	4	518	c.442G>A	c.(442-444)Gct>Act	p.A148T	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000551245.1_Missense_Mutation_p.A148T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	148					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTAGTCTGGCTAAAAGAGT	0.597																																						ENST00000257909.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				32						c.(442-444)Gct>Act		trophinin associated protein							54.0	59.0	57.0					12																	49719388		2203	4300	6503	SO:0001583	missense	10024	0	0					g.chr12:49719388G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.442G>A	chr12.hg19:g.49719388G>A	ENSP00000257909:p.Ala148Thr	0					TROAP_ENST00000551245.1_Missense_Mutation_p.A148T|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA	p.A148T	NM_005480.3	NP_005471.3	1	2	3	2.002308	Q12815	TROAP_HUMAN		4	518	+			F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	1	1	hg19	c.442G>A	CCDS8784.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532898	0.85812	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547807	T;T;T	0.21932	1.98;1.98;1.98	5.37	4.48	0.54585	5.37	4.48	0.54585	.	0.000000	0.53938	D	0.000047	T	0.36441	0.0967	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.969	T	0.10222	-1.0639	10	0.87932	D	0	-10.8552	10.2384	0.43297	0.0915:0.0:0.9085:0.0	.	148;148	F8W130;Q12815	.;TROAP_HUMAN	T	148	ENSP00000447509:A148T;ENSP00000257909:A148T;ENSP00000446646:A148T	ENSP00000257909:A148T	A	+	1	0	0	TROAP	48005655	48005655	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.930000	0.63462	1.253000	0.44018	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-19.637250	1	0.170000	NM_005480			48	46		326	321	1		1	1		0	0	84	0		1	3.313670e-01	0	2	0	7	0	48	326
DNAJC22	79962	broad.mit.edu	37	12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	127						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532																																						ENST00000549441.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(379-381)caG>caT		DnaJ (Hsp40) homolog, subfamily C, member 22							127.0	121.0	123.0					12																	49743036		2203	4300	6503	SO:0001583	missense	79962	0	0					g.chr12:49743036G>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.381G>T	chr12.hg19:g.49743036G>T	ENSP00000446830:p.Gln127His	0					DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H	p.Q127H			1	2	3	2.002308	Q8N4W6	DJC22_HUMAN		3	1585	+			B3KP54	Missense_Mutation	SNP	ENST00000549441.2	1	1	hg19	c.381G>T	CCDS8785.1	1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468563	0.63625	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.64997	1.995	0.49299	D	0.999776	D	0.89917	1.0	D	0.85130	0.997	T	0.60271	-0.7296	10	0.87932	D	0	-12.8666	7.8686	0.29552	0.1798:0.0:0.8202:0.0	.	127	Q8N4W6	DJC22_HUMAN	H	127	ENSP00000446830:Q127H;ENSP00000378508:Q127H	ENSP00000378508:Q127H	Q	+	3	2	2	DNAJC22	48029303	48029303	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.927000	0.63440	2.399000	0.81585	0.561000	0.74099	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-20.000000	1	0.170000	NM_024902			173	173		756	748	1		1	1		0	0	158	0		1	9.985258e-01	0	12	0	32	0	173	756
SPATS2	65244	broad.mit.edu	37	12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	66						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323																																						ENST00000553127.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				21						c.(196-198)Gta>Tta		spermatogenesis associated, serine-rich 2							116.0	102.0	107.0					12																	49883338		2203	4300	6503	SO:0001583	missense	65244	0	0					g.chr12:49883338G>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.196G>T	chr12.hg19:g.49883338G>T	ENSP00000448228:p.Val66Leu	0					SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L|SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L	p.V66L			1	2	3	2.002308	Q86XZ4	SPAS2_HUMAN		6	709	+			A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	1	1	hg19	c.196G>T	CCDS31794.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094313	0.76870	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.53249	1.67	0.80722	D	1	P	0.34800	0.469	B	0.28385	0.089	T	0.58891	-0.7556	9	0.72032	D	0.01	-4.6616	16.5539	0.84479	0.0:0.0:1.0:0.0	.	66	Q86XZ4	SPAS2_HUMAN	L	66	.	ENSP00000326841:V66L	V	+	1	0	0	SPATS2	48169605	48169605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.328595	1	0.170000	NM_023071			38	38		216	213	1		1	1		0	0	52	0		1	1	0	45	0	122	0	38	216
SPATS2	65244	broad.mit.edu	37	12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	253						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353																																						ENST00000553127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(757-759)Gca>Aca		spermatogenesis associated, serine-rich 2							69.0	69.0	69.0					12																	49893906		2203	4300	6503	SO:0001583	missense	65244	0	0					g.chr12:49893906G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.757G>A	chr12.hg19:g.49893906G>A	ENSP00000448228:p.Ala253Thr	0					SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000552557.1_3'UTR	p.A253T			1	2	3	2.002308	Q86XZ4	SPAS2_HUMAN		10	1270	+			A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	1	1	hg19	c.757G>A	CCDS31794.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018060	0.35606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.091847	0.85682	D	0.000000	T	0.62514	0.2434	L	0.33792	1.035	0.80722	D	1	D	0.57899	0.981	D	0.65874	0.939	T	0.52253	-0.8600	9	0.05721	T	0.95	-16.3228	18.1659	0.89727	0.0:0.0:1.0:0.0	.	253	Q86XZ4	SPAS2_HUMAN	T	253	.	ENSP00000326841:A253T	A	+	1	0	0	SPATS2	48180173	48180173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.894000	0.99253	0.591000	0.81541	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_023071			54	53		241	238	0		1	1		0	0	80	0		1	1	0	43	0	100	0	54	241
KCNH3	23416	broad.mit.edu	37	12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	20	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			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						ACCATCGCTACGCGCTTCGAC	0.746																																						ENST00000257981.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(58-60)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 3							24.0	24.0	24.0					12																	49933258		2203	4298	6501	SO:0001583	missense	23416	0	0					g.chr12:49933258C>T	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.59C>T	chr12.hg19:g.49933258C>T	ENSP00000257981:p.Thr20Met	0						p.T20M	NM_012284.1	NP_036416.1	1	2	3	2.002308	Q9ULD8	KCNH3_HUMAN		1	319	+			Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	1	1	hg19	c.59C>T	CCDS8786.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969310	0.74246	.	.	ENSG00000135519	ENST00000257981	D	0.98762	-5.12	3.49	3.49	0.39957	3.49	3.49	0.39957	PAS (1);	0.000000	0.33959	N	0.004391	D	0.98760	0.9583	M	0.83953	2.67	0.44852	D	0.997869	D	0.76494	0.999	P	0.59643	0.861	D	0.98832	1.0751	10	0.66056	D	0.02	.	12.8748	0.57984	0.0:1.0:0.0:0.0	.	20	Q9ULD8	KCNH3_HUMAN	M	20	ENSP00000257981:T20M	ENSP00000257981:T20M	T	+	2	0	0	KCNH3	48219525	48219525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	1.954000	0.56735	0.561000	0.74099	ACG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_012284			32	32		126	120	0		1	1		0	0	37	0		1	4.355590e-02	0	2	0	0	0	32	126
KCNH3	23416	broad.mit.edu	37	12	49942692	49942692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	ENST00000257981.6	+	8	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	402					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)			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						GCTGCAGGAGCTGGCCCGCCG	0.692																																						ENST00000257981.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999832	0.990000	1.000000																										0				36						c.(1204-1206)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 3							7.0	8.0	8.0					12																	49942692		2153	4223	6376	SO:0001583	missense	23416	0	0					g.chr12:49942692C>A	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.1204C>A	chr12.hg19:g.49942692C>A	ENSP00000257981:p.Leu402Met	0						p.L402M	NM_012284.1	NP_036416.1	1	2	3	2.002308	Q9ULD8	KCNH3_HUMAN		8	1464	+			Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	0	1	hg19	c.1204C>A	CCDS8786.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585537	0.66105	.	.	ENSG00000135519	ENST00000257981	D	0.99121	-5.45	4.52	1.7	0.24286	4.52	1.7	0.24286	Ion transport (1);	0.000000	0.36268	N	0.002700	D	0.98858	0.9614	M	0.75264	2.295	0.33444	D	0.582831	D	0.89917	1.0	D	0.87578	0.998	D	0.98991	1.0808	10	0.87932	D	0	.	8.0473	0.30557	0.0:0.7158:0.0:0.2842	.	402	Q9ULD8	KCNH3_HUMAN	M	402	ENSP00000257981:L402M	ENSP00000257981:L402M	L	+	1	2	2	KCNH3	48228959	48228959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.467000	0.45093	0.657000	0.30906	0.650000	0.86243	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_012284			13	13		42	42	0		1	0		0	0	9	0		9.997532e-01	6.352087e-02	0	1	0	1	0	13	42
KCNH3	23416	broad.mit.edu	37	12	49942829	49942829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	447					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)			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						GCGGCCCGTCGCTGCGCAGCG	0.672																																						ENST00000257981.6	1.000000	0.180000	6.400000e-01	2.900000e-01	0.430000	0.475009	0.430000	0.390000																										0				36						c.(1339-1341)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 3							34.0	33.0	33.0					12																	49942829		2203	4300	6503	SO:0001819	synonymous_variant	23416	0	0					g.chr12:49942829G>A	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.1341G>A	chr12.hg19:g.49942829G>A		0						p.S447S	NM_012284.1	NP_036416.1	1	2	3	2.002308	Q9ULD8	KCNH3_HUMAN		8	1601	+			Q9UQ06	Silent	SNP	ENST00000257981.6	1	1	hg19	c.1341G>A	CCDS8786.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-9.080451	1	0.170000	NM_012284			7	6		202	201	0		1	0		0	0	34	0		9.804749e-01	2.129075e-02	0	0	0	6	0	7	202
KCNH3	23416	broad.mit.edu	37	12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					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)			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						GTACGCCCGCCGCTTTCTGTA	0.652																																						ENST00000257981.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1531-1533)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 3							79.0	70.0	73.0					12																	49943286		2203	4300	6503	SO:0001583	missense	23416	0	0					g.chr12:49943286C>T	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.1531C>T	chr12.hg19:g.49943286C>T	ENSP00000257981:p.Arg511Cys	0						p.R511C	NM_012284.1	NP_036416.1	1	2	3	2.002308	Q9ULD8	KCNH3_HUMAN		9	1791	+			Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	1	1	hg19	c.1531C>T	CCDS8786.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897636	0.91962	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98302	0.9437	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98771	1.0728	10	0.66056	D	0.02	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	C	511	ENSP00000257981:R511C	ENSP00000257981:R511C	R	+	1	0	0	KCNH3	48229553	48229553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.719000	0.93026	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1		2	2	2	0		0	0	116		116	59	1	2.060000	-3.831419	1	0.170000	NM_012284			128	128		468	304	1		1	0		0	0	116	0		1	2.058641e-01	0	0	0	4	0	128	468
KCNH3	23416	broad.mit.edu	37	12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	653					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)			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						CCCGGCGGGAGCAGGTGGTAA	0.637																																						ENST00000257981.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1957-1959)gaG>gaT		potassium voltage-gated channel, subfamily H (eag-related), member 3							72.0	78.0	76.0					12																	49948160		2203	4300	6503	SO:0001583	missense	23416	0	0					g.chr12:49948160G>T	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.1959G>T	chr12.hg19:g.49948160G>T	ENSP00000257981:p.Glu653Asp	0						p.E653D	NM_012284.1	NP_036416.1	1	2	3	2.002308	Q9ULD8	KCNH3_HUMAN		11	2219	+			Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	1	1	hg19	c.1959G>T	CCDS8786.1	1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566553	0.13560	.	.	ENSG00000135519	ENST00000257981	D	0.96427	-4.01	4.81	1.93	0.25924	4.81	1.93	0.25924	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000228	D	0.82536	0.5058	N	0.01751	-0.74	0.33808	D	0.627452	B	0.02656	0.0	B	0.04013	0.001	T	0.76503	-0.2935	10	0.02654	T	1	.	3.61	0.08057	0.2804:0.0:0.5456:0.174	.	653	Q9ULD8	KCNH3_HUMAN	D	653	ENSP00000257981:E653D	ENSP00000257981:E653D	E	+	3	2	2	KCNH3	48234427	48234427	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	-0.060000	0.11712	0.697000	0.31718	0.563000	0.77884	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1		2	2	2	0		0	0	162		162	159	1	2.060000	-20.000000	1	0.170000	NM_012284			160	158		683	678	1		1	0		0	0	162	0		1	1.668130e-01	0	1	0	3	0	160	683
FAM186B	84070	broad.mit.edu	37	12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000257894.2	-	4	1787	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	542						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587																																						ENST00000257894.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1624-1626)gaG>gaT		family with sequence similarity 186, member B							83.0	78.0	80.0					12																	49993797		2203	4300	6503	SO:0001583	missense	84070	0	0					g.chr12:49993797C>A	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.1626G>T	chr12.hg19:g.49993797C>A	ENSP00000257894:p.Glu542Asp	0					PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D|FAM186B_ENST00000551047.1_Intron	p.E542D	NM_032130.2	NP_115506.1	1	2	3	2.002308	Q8IYM0	F186B_HUMAN		4	1787	-			B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	1	1	hg19	c.1626G>T	CCDS8788.1	1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706919	0.30232	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12361	2.69;2.69;2.89	5.1	2.24	0.28232	5.1	2.24	0.28232	.	1.912250	0.02624	N	0.103495	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B;B	0.32160	0.358;0.187	B;B	0.32762	0.152;0.106	T	0.29181	-1.0020	9	.	.	.	-0.2479	5.739	0.18083	0.0:0.6614:0.1595:0.1791	.	452;542	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	452;155;542	ENSP00000438569:E452D;ENSP00000436995:E155D;ENSP00000257894:E542D	.	E	-	3	2	2	FAM186B	48280064	48280064	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.996000	0.29719	0.252000	0.21531	0.563000	0.77884	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_032130			80	76		333	322	1		1	0		0	0	71	0		1	0	0	0	0	1	0	80	333
FMNL3	91010	broad.mit.edu	37	12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000293590.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTCATCTTCCGGTCAGTGGA	0.552																																						ENST00000293590.5	1.000000	0.320000	5.600000e-01	3.800000e-01	0.460000	0.499082	0.460000	0.460000																										0				39						c.(2410-2412)cGg>cAg		formin-like 3							130.0	140.0	137.0					12																	50042916		2096	4228	6324	SO:0001583	missense	91010	1	121128	36				g.chr12:50042916C>T	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.2411G>A	chr12.hg19:g.50042916C>T	ENSP00000293590:p.Arg804Gln	0					FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q	p.R804Q			1	2	3	2.002308	Q8IVF7	FMNL3_HUMAN		21	2644	-			B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	1	1	hg19	c.2411G>A		0	.	.	.	.	.	.	.	.	.	.	C	36	5.679679	0.96774	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.991;0.986;0.995	T	0.68085	-0.5502	10	0.21014	T	0.42	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	753;804;804	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	804;804;753;804	ENSP00000335655:R804Q;ENSP00000447479:R804Q;ENSP00000344311:R753Q;ENSP00000293590:R804Q	ENSP00000293590:R804Q	R	-	2	0	0	FMNL3	48329183	48329183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.723000	0.93209	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	151		151	149	1	2.060000	-2.346851	0	0.170000	NM_175736			35	34		876	862	0		1	0		0	0	151	0		1	8.051790e-01	0	0	0	78	0	35	876
FMNL3	91010	broad.mit.edu	37	12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000293590.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K			Q8IVF7	FMNL3_HUMAN	formin-like 3	127	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)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527																																						ENST00000293590.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(379-381)Gaa>Aaa		formin-like 3							90.0	90.0	90.0					12																	50055822		1934	4137	6071	SO:0001583	missense	91010	0	0					g.chr12:50055822C>T	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.379G>A	chr12.hg19:g.50055822C>T	ENSP00000293590:p.Glu127Lys	0					FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K	p.E127K			1	2	3	2.002308	Q8IVF7	FMNL3_HUMAN		5	612	-			B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	1	1	hg19	c.379G>A		1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349590	0.82132	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.41	4.41	0.53225	4.41	4.41	0.53225	.	0.057003	0.64402	D	0.000002	D	0.93239	0.7846	M	0.68593	2.085	0.80722	D	1	D;B	0.67145	0.996;0.055	D;B	0.73708	0.981;0.034	D	0.93275	0.6655	10	0.51188	T	0.08	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	127;127	Q8IVF7-2;Q8IVF7-3	.;.	K	127	ENSP00000335655:E127K;ENSP00000447479:E127K;ENSP00000344311:E127K;ENSP00000293590:E127K	ENSP00000293590:E127K	E	-	1	0	0	FMNL3	48342089	48342089	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.587000	0.82613	2.460000	0.83146	0.462000	0.41574	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_175736			66	66		249	247	1		1	0		0	0	64	0		1	9.999634e-01	0	0	0	59	0	66	249
NCKAP5L	57701	broad.mit.edu	37	12	50188802	50188802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652																																						ENST00000335999.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999779	0.990000	1.000000																										0				18						c.(2839-2841)ggC>ggT		NCK-associated protein 5-like							13.0	14.0	14.0					12																	50188802		1927	4113	6040	SO:0001819	synonymous_variant	57701	0	0					g.chr12:50188802G>A	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.2841C>T	chr12.hg19:g.50188802G>A		0						p.G947G	NM_001037806.3	NP_001032895.2	1	2	3	2.002308	Q9HCH0	NCK5L_HUMAN		8	3042	-			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	1	1	hg19	c.2841C>T	CCDS41781.2	1	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029544	0.08054	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	5.23	0.72850	5.23	5.23	0.72850	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61088	-0.7133	4	.	.	.	-18.2225	11.476	0.50297	0.0845:0.0:0.9155:0.0	.	.	.	.	F	662	.	.	L	-	1	0	0	NCKAP5L	48475069	48475069	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.512000	0.45485	2.619000	0.88677	0.462000	0.41574	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	XM_035497			15	14		61	60	1		1	1		0	0	13	0		9.999128e-01	9.974128e-01	0	2	0	43	0	15	61
NCKAP5L	57701	broad.mit.edu	37	12	50195630	50195630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592																																						ENST00000335999.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.e6+1		NCK-associated protein 5-like							124.0	139.0	134.0					12																	50195630		2176	4269	6445	SO:0001630	splice_region_variant	57701	0	0					g.chr12:50195630C>T	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.351+1G>A	chr12.hg19:g.50195630C>T		0							NM_001037806.3	NP_001032895.2	1	2	3	2.002308	Q9HCH0	NCK5L_HUMAN		6	553	-			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	1	1	hg19		CCDS41781.2	1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180587	0.38511	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.74	4.74	0.60224	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8951	0.86098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NCKAP5L	48481897	48481897	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.930000	0.75858	2.359000	0.80004	0.561000	0.74099	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	XM_035497	Intron		52	50		261	258	1		1	1		0	0	48	0		1	7.627966e-02	0	2	0	1	0	52	261
BCDIN3D	144233	broad.mit.edu	37	12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	128	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333924.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				9						c.(382-384)Gcc>Acc		BCDIN3 domain containing							97.0	96.0	96.0					12																	50232651		2203	4300	6503	SO:0001583	missense	144233	0	0					g.chr12:50232651C>T		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.382G>A	chr12.hg19:g.50232651C>T	ENSP00000335201:p.Ala128Thr	0		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	p.A128T	NM_181708.2	NP_859059.1	1	2	3	2.002308	Q7Z5W3	BN3D2_HUMAN		2	423	-			A8K829	Missense_Mutation	SNP	ENST00000333924.4	1	1	hg19	c.382G>A	CCDS8790.1	1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287015	0.23478	.	.	ENSG00000186666	ENST00000333924	T	0.46063	0.88	5.57	5.57	0.84162	5.57	5.57	0.84162	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.404823	0.30704	N	0.009056	T	0.36991	0.0987	L	0.58101	1.795	0.80722	D	1	B	0.32245	0.361	B	0.26969	0.075	T	0.12319	-1.0552	10	0.30078	T	0.28	.	12.3707	0.55254	0.1683:0.8316:0.0:0.0	.	128	Q7Z5W3	BN3D2_HUMAN	T	128	ENSP00000335201:A128T	ENSP00000335201:A128T	A	-	1	0	0	BCDIN3D	48518918	48518918	0.996000	0.38824	1.000000	0.80357	0.872000	0.50106	2.785000	0.47782	2.785000	0.95823	0.591000	0.81541	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_181708			61	60		392	387	1		1	1		0	0	107	0		1	9.920577e-01	0	13	0	37	0	61	392
RACGAP1	29127	broad.mit.edu	37	12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000548961.1	-	1	102	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C					Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468																																						ENST00000548961.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(97-99)Cgt>Tgt		Rac GTPase activating protein 1							156.0	141.0	146.0					12																	50386039		2203	4300	6503	SO:0001583	missense	29127	0	0					g.chr12:50386039G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.97C>T	chr12.hg19:g.50386039G>A	ENSP00000446889:p.Arg33Cys	0					RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C	p.R33C			1	2	3	2.002308				1	102	-				Missense_Mutation	SNP	ENST00000548961.1	1	1	hg19	c.97C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903173	0.52333	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.06	5.17	0.71159	6.06	5.17	0.71159	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.048722	0.85682	D	0.000000	T	0.25269	0.0614	M	0.74647	2.275	0.80722	D	1	P	0.36171	0.541	B	0.22386	0.039	T	0.06499	-1.0823	10	0.42905	T	0.14	-1.5039	11.026	0.47744	0.0664:0.0:0.8044:0.1292	.	523	Q9H0H5	RGAP1_HUMAN	C	33;523;523;523;523;523;523;259	ENSP00000446889:R33C;ENSP00000404190:R523C;ENSP00000309871:R523C;ENSP00000413241:R523C;ENSP00000404808:R523C;ENSP00000449374:R523C;ENSP00000449370:R523C;ENSP00000449565:R259C	ENSP00000309871:R523C	R	-	1	0	0	RACGAP1	48672306	48672306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.669000	0.68081	1.572000	0.49736	0.650000	0.86243	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	1	0	1		2	2	2	0		0	0	182		182	179	1	2.060000	-20.000000	1	0.170000	NM_013277			126	125		571	559	1		1	1		0	0	182	0		1	9.998677e-01	0	22	0	38	0	126	571
RACGAP1	29127	broad.mit.edu	37	12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000427314.2	-	6	578	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448																																						ENST00000427314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(355-357)Gag>Aag		Rac GTPase activating protein 1							134.0	115.0	121.0					12																	50399109		2203	4300	6503	SO:0001583	missense	29127	2	121412	32				g.chr12:50399109C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.355G>A	chr12.hg19:g.50399109C>T	ENSP00000404190:p.Glu119Lys	0					RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K	p.E119K	NM_013277.3	NP_037409.2	1	2	3	2.002308				6	578	-				Missense_Mutation	SNP	ENST00000427314.2	1	1	hg19	c.355G>A	CCDS8795.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.084094	0.94100	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000548247;ENST00000546764;ENST00000551876;ENST00000549777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.203855	0.53938	D	0.000054	D	0.85071	0.5613	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.49226	0.603	D	0.85688	0.1305	10	0.72032	D	0.01	-14.897	20.8794	0.99867	0.0:1.0:0.0:0.0	.	119	Q9H0H5	RGAP1_HUMAN	K	119;119;119;119;119;119;119;45;45;61;61;119;131;119;119;61;45;119;119;119	ENSP00000404190:E119K;ENSP00000309871:E119K;ENSP00000413241:E119K;ENSP00000404808:E119K;ENSP00000449374:E119K;ENSP00000449370:E119K;ENSP00000448697:E119K;ENSP00000446642:E45K;ENSP00000447429:E45K;ENSP00000449963:E61K;ENSP00000450064:E61K;ENSP00000449170:E119K;ENSP00000449620:E131K;ENSP00000449669:E119K;ENSP00000447393:E119K;ENSP00000448968:E61K;ENSP00000447177:E119K;ENSP00000449186:E119K;ENSP00000448707:E119K	ENSP00000309871:E119K	E	-	1	0	0	RACGAP1	48685376	48685376	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.690497	1	0.170000	NM_013277			63	60		301	293	1		1	1		0	0	57	0		1	9.999633e-01	0	26	0	48	0	63	301
SMARCD1	6602	broad.mit.edu	37	12	50483666	50483666	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537																																						ENST00000394963.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.e7-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							114.0	105.0	108.0					12																	50483666		2203	4300	6503	SO:0001630	splice_region_variant	6602	0	0					g.chr12:50483666G>T	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.772-1G>T	chr12.hg19:g.50483666G>T		0					SMARCD1_ENST00000548573.1_Splice_Site|SMARCD1_ENST00000381513.4_Splice_Site		NM_003076.4	NP_003067.3	1	2	3	2.002308				7	1169	+				Splice_Site	SNP	ENST00000394963.4	1	1	hg19		CCDS8797.2	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530681	0.85706	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SMARCD1	48769933	48769933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003076	Intron		61	60		216	211	1		1	0		0	0	57	0		1	5.000000e-02	0	1	0	1	0	61	216
GPD1	2819	broad.mit.edu	37	12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000548814.1_Missense_Mutation_p.A90T|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	113			A -> P (in dbSNP:rs1128867). {ECO:0000269|PubMed:7772607}.		cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAAGGCAAACGCCACTGGCAT	0.562																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				8						c.(337-339)Gcc>Acc		glycerol-3-phosphate dehydrogenase 1 (soluble)							70.0	58.0	62.0					12																	50499448		2203	4300	6503	SO:0001583	missense	2819	0	0					g.chr12:50499448G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.337G>A	chr12.hg19:g.50499448G>A	ENSP00000301149:p.Ala113Thr	0					GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.A90T	p.A113T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	1	2	3	2.002308	P21695	GPDA_HUMAN		3	569	+			F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	1	1	hg19	c.337G>A	CCDS8799.1	1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288161	0.40494	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.57907	0.37;0.37	5.39	-7.07	0.01563	5.39	-7.07	0.01563	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.470065	0.25291	N	0.031732	T	0.45975	0.1369	L	0.51422	1.61	0.33928	D	0.64173	D;B;B	0.56035	0.974;0.066;0.031	P;B;B	0.46510	0.519;0.047;0.04	T	0.62656	-0.6808	10	0.51188	T	0.08	-24.2271	15.4312	0.75102	0.5483:0.0:0.4517:0.0	.	113;90;113	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	T	113;113;90	ENSP00000301149:A113T;ENSP00000446768:A90T	ENSP00000301149:A113T	A	+	1	0	0	GPD1	48785715	48785715	0.009000	0.17119	0.064000	0.19789	0.718000	0.41266	0.206000	0.17375	-1.889000	0.01112	-1.267000	0.01435	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000				36	35		207	205	1		1	1		0	0	43	0		1	7.106690e-01	0	4	0	12	0	36	207
LIMA1	51474	broad.mit.edu	37	12	50575758	50575758	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000341247.4	-	10	1352	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000552823.1_Silent_p.E241E|LIMA1_ENST00000547825.1_Silent_p.E99E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	401	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)			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						CCAAGAGACGCTCCATTGGAT	0.483																																						ENST00000341247.4	1.000000	0.630000	1	7.700000e-01	0.930000	0.902702	0.930000	1.000000																										0				44						c.(1201-1203)gaG>gaA		LIM domain and actin binding 1							106.0	97.0	100.0					12																	50575758		2203	4300	6503	SO:0001819	synonymous_variant	51474	0	0					g.chr12:50575758C>T	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.1203G>A	chr12.hg19:g.50575758C>T		0					LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000547825.1_Silent_p.E99E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000552823.1_Silent_p.E241E	p.E401E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	1	2	3	2.002308	Q9UHB6	LIMA1_HUMAN		10	1352	-			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	1	1	hg19	c.1203G>A	CCDS8802.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_016357			28	27		332	329	1		1	1		0	0	65	0		1	1	0	65	0	428	0	28	332
LIMA1	51474	broad.mit.edu	37	12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000341247.4	-	10	1306	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V|LIMA1_ENST00000547825.1_Missense_Mutation_p.A84V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	386					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)			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						GGTCTCTCTTGCAGGTGCCTG	0.468																																						ENST00000341247.4	1.000000	0.430000	8.800000e-01	5.400000e-01	0.690000	0.711206	0.690000	1.000000																										0				44						c.(1156-1158)gCa>gTa		LIM domain and actin binding 1							81.0	79.0	80.0					12																	50575804		2203	4300	6503	SO:0001583	missense	51474	0	0					g.chr12:50575804G>A	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.1157C>T	chr12.hg19:g.50575804G>A	ENSP00000340184:p.Ala386Val	0					LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000547825.1_Missense_Mutation_p.A84V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V	p.A386V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	1	2	3	2.002308	Q9UHB6	LIMA1_HUMAN		10	1306	-			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	1	1	hg19	c.1157C>T	CCDS8802.1	0	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623152	0.14193	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.08;-1.09;-1.41;-1.83;-1.11;-1.41;-1.4	5.49	2.53	0.30540	5.49	2.53	0.30540	Zinc finger, LIM-type (1);	0.325550	0.35320	N	0.003281	T	0.81192	0.4771	M	0.69823	2.125	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.64947	-0.6287	10	0.18710	T	0.47	.	10.2094	0.43132	0.2881:0.0:0.7119:0.0	.	396;386;225	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	83;84;226;387;386;227;225;305	ENSP00000448463:A83V;ENSP00000448706:A84V;ENSP00000450266:A226V;ENSP00000378400:A387V;ENSP00000340184:A386V;ENSP00000448779:A227V;ENSP00000450087:A225V	ENSP00000340184:A386V	A	-	2	0	0	LIMA1	48862071	48862071	0.219000	0.23619	0.606000	0.28943	0.973000	0.67179	1.043000	0.30316	0.741000	0.32674	0.655000	0.94253	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-19.997070	1	0.170000	NM_016357			20	20		332	331	1		1	1		0	0	77	0		9.999956e-01	9.999999e-01	0	77	0	428	0	20	332
LIMA1	51474	broad.mit.edu	37	12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	127					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)			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						AGTCTAGATCTGGGGTGGATT	0.507																																						ENST00000341247.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(379-381)Aga>Gga		LIM domain and actin binding 1							216.0	155.0	176.0					12																	50616055		2203	4300	6503	SO:0001583	missense	51474	0	0					g.chr12:50616055T>C	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.379A>G	chr12.hg19:g.50616055T>C	ENSP00000340184:p.Arg127Gly	0					LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	1	2	3	2.002308	Q9UHB6	LIMA1_HUMAN		4	528	-			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	1	1	hg19	c.379A>G	CCDS8802.1	1	.	.	.	.	.	.	.	.	.	.	T	3.781	-0.045713	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.84800	-1.9;-1.16	5.12	-0.174	0.13319	5.12	-0.174	0.13319	.	0.889113	0.09948	N	0.735058	T	0.78438	0.4283	M	0.62723	1.935	0.21256	N	0.999748	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.61783	-0.6992	10	0.33940	T	0.23	.	2.283	0.04119	0.1209:0.1435:0.366:0.3696	.	136;127	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	G	127;127;46;127	ENSP00000378400:R127G;ENSP00000340184:R127G	ENSP00000340184:R127G	R	-	1	2	2	LIMA1	48902322	48902322	0.055000	0.20627	0.001000	0.08648	0.196000	0.23810	0.210000	0.17455	-0.162000	0.10964	0.533000	0.62120	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_016357			93	93		384	376	1		1	1		0	0	73	0		1	1	0	157	0	315	0	93	384
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000347328.5_Splice_Site_p.R303C|LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000518444.1_Splice_Site_p.R373C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348																																						ENST00000398473.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.991812	0.990000	1.000000																										0				23						c.(1120-1122)Cgt>Tgt		La ribonucleoprotein domain family, member 4							77.0	68.0	71.0					12																	50848199		1814	4070	5884	SO:0001630	splice_region_variant	113251	0	0					g.chr12:50848199C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1121+1C>T	chr12.hg19:g.50848199C>T		0					LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000347328.5_Splice_Site_p.R303C|LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000518444.1_Splice_Site_p.R373C	p.R374C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	1	2	3	2.002308	Q71RC2	LARP4_HUMAN		10	1232	+			A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	1	0	hg19	c.1120C>T	CCDS41782.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908793|2.908793	0.52439|0.52439	.|.	.|.	ENSG00000161813|ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328|ENST00000293618	T;T;T;T;T;T|T	0.36157|0.34667	1.27;1.27;1.27;1.27;1.27;1.33|1.35	3.98|3.98	3.98|3.98	0.46160|0.46160	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.40543|0.40543	1.245|1.245	0.40960|0.40960	D|D	0.984616|0.984616	B;B;D;B;B|D	0.89917|0.89917	0.354;0.027;1.0;0.146;0.202|1.0	B;B;D;B;B|D	0.80764|0.80764	0.139;0.021;0.994;0.064;0.038|0.994	T|T	0.58115|0.58115	-0.7693|-0.7693	10|10	0.39692|0.66056	T|D	0.17|0.02	.|.	16.9745|16.9745	0.86309|0.86309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;373;303;374;380|374	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4|G3XAA8	.;.;.;LARP4_HUMAN;.|.	C|W	380;374;374;373;304;275;303|374	ENSP00000415464:R380C;ENSP00000381490:R374C;ENSP00000429781:R374C;ENSP00000429077:R373C;ENSP00000430851:R304C;ENSP00000340901:R303C|ENSP00000293618:R374W	ENSP00000340901:R303C|ENSP00000293618:R374W	R|R	+|+	1|1	0|2	0|2	LARP4|LARP4	49134466|49134466	49134466|49134466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.474000|5.474000	0.66781|0.66781	2.174000|2.174000	0.68829|0.68829	0.485000|0.485000	0.47835|0.47835	CGT|CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_052879	Missense_Mutation		23	23		185	183	1		1	1		0	0	49	0		9.999995e-01	9.990075e-01	0	10	0	81	0	23	185
LARP4	113251	broad.mit.edu	37	12	50869634	50869634	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50869634G>T	ENST00000398473.2	+	16	2274	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	721					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTGCCACCCAGATCACCAAAG	0.443																																						ENST00000398473.2	1.000000	0.130000	4.600000e-01	2.000000e-01	0.300000	0.361073	0.300000	0.280000																										0				23						c.(2161-2163)aGa>aTa		La ribonucleoprotein domain family, member 4							52.0	53.0	52.0					12																	50869634		1884	4121	6005	SO:0001583	missense	113251	0	0					g.chr12:50869634G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2162G>T	chr12.hg19:g.50869634G>T	ENSP00000381490:p.Arg721Ile	0					LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I	p.R721I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	1	2	3	2.002308	Q71RC2	LARP4_HUMAN		16	2274	+			A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	0	1	hg19	c.2162G>T	CCDS41782.1	0	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798127	0.50208	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.34072	1.38;1.39;1.41;1.4;1.38	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.290023	0.38605	N	0.001639	T	0.56046	0.1959	L	0.52364	1.645	0.58432	D	0.999992	B;D;P;B;B;P;B	0.76494	0.36;0.999;0.866;0.42;0.42;0.495;0.379	B;D;B;B;B;B;B	0.69479	0.112;0.964;0.328;0.061;0.09;0.09;0.095	T	0.54125	-0.8340	10	0.56958	D	0.05	.	19.6351	0.95728	0.0:0.0:1.0:0.0	.	602;131;720;650;650;721;727	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	650;727;721;720;602;650	ENSP00000293618:R650I;ENSP00000415464:R727I;ENSP00000381490:R721I;ENSP00000429077:R720I;ENSP00000340901:R650I	ENSP00000293618:R650I	R	+	2	0	0	LARP4	49155901	49155901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	2.728000	0.93425	0.643000	0.83706	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-7.882047	1	0.170000	NM_052879			7	7		285	278	0		1	1		0	0	58	0		9.792147e-01	7.177797e-01	0	3	0	98	0	7	285
DIP2B	57609	broad.mit.edu	37	12	51068306	51068306	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	230	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			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						CTTCCTCCTCATCATCTTCCT	0.448																																						ENST00000301180.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				60						c.(688-690)tcA>tcG		DIP2 disco-interacting protein 2 homolog B (Drosophila)							139.0	123.0	129.0					12																	51068306		2203	4300	6503	SO:0001819	synonymous_variant	57609	0	0					g.chr12:51068306A>G	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.690A>G	chr12.hg19:g.51068306A>G		0						p.S230S	NM_173602.2	NP_775873.2	1	2	3	2.002308	Q9P265	DIP2B_HUMAN		6	724	+			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	1	1	hg19	c.690A>G	CCDS31799.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_173602			47	43		271	267	1		1	1		0	0	62	0		1	9.794765e-01	0	9	0	29	0	47	271
DIP2B	57609	broad.mit.edu	37	12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	342						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			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						TCTTGAATCTGCCCTGCAGCG	0.552																																						ENST00000301180.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1024-1026)Gcc>Acc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							79.0	70.0	73.0					12																	51072569		2203	4300	6503	SO:0001583	missense	57609	0	0					g.chr12:51072569G>A	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.1024G>A	chr12.hg19:g.51072569G>A	ENSP00000301180:p.Ala342Thr	0						p.A342T	NM_173602.2	NP_775873.2	1	2	3	2.002308	Q9P265	DIP2B_HUMAN		8	1058	+			Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	1	1	hg19	c.1024G>A	CCDS31799.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360615	0.82353	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.11277	2.79	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.87578	0.176;0.998	T	0.00844	-1.1543	10	0.33141	T	0.24	-13.636	18.2696	0.90064	0.0:0.0:1.0:0.0	.	342;352	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	352;342	ENSP00000301180:A342T	ENSP00000301180:A342T	A	+	1	0	0	DIP2B	49358836	49358836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.619000	0.88677	0.467000	0.42956	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	1	0	1		2	2	2	0		0	0	60		60	61	1	2.060000	-20.000000	1	0.170000	NM_173602			45	42		209	206	1		1	1		0	0	60	0		1	8.885872e-01	0	8	0	12	0	45	209
ATF1	466	broad.mit.edu	37	12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	91					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	GTTTCTGCTGCTGTCACTTCT	0.388			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q13	12q13	466	T	activating transcription factor 1				"""E, M"""	E, M	EWSR1, FUS		malignant melanoma of soft parts , angiomatoid fibrous histiocytoma 	EWSR1/ATF1(347)|FUS/ATF1(4)	0				4						c.(271-273)gCt>gAt		activating transcription factor 1	Pseudoephedrine(DB00852)						83.0	87.0	86.0					12																	51203316		2203	4300	6503	SO:0001583	missense	466	0	0					g.chr12:51203316C>A	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.272C>A	chr12.hg19:g.51203316C>A	ENSP00000262053:p.Ala91Asp	0					ATF1_ENST00000539132.1_Intron	p.A91D	NM_005171.4	NP_005162.1	1	2	3	2.002308	P18846	ATF1_HUMAN		4	294	+			B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	1	1	hg19	c.272C>A	CCDS8803.1	1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.293949	0.10567	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.78003	-1.14;0.45;0.44	.	.	.	.	.	.	.	0.367899	0.30695	N	0.009070	T	0.67776	0.2929	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.25759	0.063	T	0.60409	-0.7269	8	0.56958	D	0.05	-14.0405	.	.	.	.	91	P18846	ATF1_HUMAN	D	91	ENSP00000448592:A91D;ENSP00000262053:A91D;ENSP00000448921:A91D	ENSP00000262053:A91D	A	+	2	0	0	ATF1	49489583	49489583	0.996000	0.38824	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_005171			64	63		307	293	1		1	1		0	0	67	0		1	1	0	59	0	128	0	64	307
TMPRSS12	283471	broad.mit.edu	37	12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T	rs201837185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000398458.3	+	4	765	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000551456.1_Nonsense_Mutation_p.G245*	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	245	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343																																						ENST00000398458.3	1.000000	0.570000	9.200000e-01	6.700000e-01	0.780000	0.793265	0.780000	0.770000																										0				18						c.(733-735)Gga>Tga		transmembrane (C-terminal) protease, serine 12							180.0	173.0	175.0					12																	51279109		1842	4093	5935	SO:0001587	stop_gained	283471	0	0					g.chr12:51279109G>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.733G>T	chr12.hg19:g.51279109G>T	ENSP00000381476:p.Gly245*	0					TMPRSS12_ENST00000551456.1_Nonsense_Mutation_p.G245*	p.G245*	NM_182559.2	NP_872365	1	2	3	2.002308	Q86WS5	TMPSC_HUMAN		4	765	+			B9ZVX2	Nonsense_Mutation	SNP	ENST00000398458.3	0	1	hg19	c.733G>T	CCDS44881.1	0	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695336	0.48202	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	.	.	.	5.22	3.4	0.38934	5.22	3.4	0.38934	.	0.539313	0.16944	N	0.193191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5652	8.296	0.31986	0.1833:0.0:0.8167:0.0	.	.	.	.	X	245	.	ENSP00000381476:G245X	G	+	1	0	0	TMPRSS12	49565376	49565376	0.336000	0.24757	0.001000	0.08648	0.129000	0.20672	2.251000	0.43187	0.706000	0.31912	0.557000	0.71058	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-3.318791	1	0.170000	NM_182559			48	47		689	676	0		1			0	0	143	0		1	0	0	0	0	0	0	48	689
SLC11A2	4891	broad.mit.edu	37	12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000262051.7	-	9	871	c.784G>A	c.(784-786)Gct>Act	p.A262T	SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T	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	262					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)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522																																						ENST00000262051.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(784-786)Gct>Act		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							227.0	147.0	174.0					12																	51390647		2203	4300	6503	SO:0001583	missense	4891	0	0					g.chr12:51390647C>T	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.784G>A	chr12.hg19:g.51390647C>T	ENSP00000262051:p.Ala262Thr	0					SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T	p.A262T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	1	2	3	2.002308	P49281	NRAM2_HUMAN		9	871	-			B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	1	1	hg19	c.784G>A	CCDS53792.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.819946	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	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	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.99425	4.56	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	0.998;0.998;0.998;0.998;0.999;0.999	D	0.95025	0.8164	10	0.87932	D	0	-14.8869	18.8085	0.92048	0.0:1.0:0.0:0.0	.	225;258;291;262;111;262	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	262;262;262;291;291;262;258;183	ENSP00000262051:A262T;ENSP00000446769:A262T;ENSP00000262052:A262T;ENSP00000378364:A291T;ENSP00000449200:A291T;ENSP00000444542:A262T;ENSP00000442810:A258T;ENSP00000446914:A183T	ENSP00000262051:A262T	A	-	1	0	0	SLC11A2	49676914	49676914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				52	49		249	247	1		1	1		0	0	63	0		1	1	0	36	0	103	0	52	249
SLC11A2	4891	broad.mit.edu	37	12	51390675	51390675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000262051.7	-	9	843	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q	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	252					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)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498																																						ENST00000262051.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(754-756)caG>caA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							225.0	145.0	172.0					12																	51390675		2203	4300	6503	SO:0001819	synonymous_variant	4891	0	0					g.chr12:51390675C>T	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.756G>A	chr12.hg19:g.51390675C>T		0					SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q	p.Q252Q	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	1	2	3	2.002308	P49281	NRAM2_HUMAN		9	843	-			B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	1	1	hg19	c.756G>A	CCDS53792.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				58	56		251	247	1		1	1		0	0	53	0		1	1	0	41	0	107	0	58	251
TFCP2	7024	broad.mit.edu	37	12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	226	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433																																						ENST00000257915.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(676-678)gaG>gaT		transcription factor CP2							197.0	176.0	183.0					12																	51502943		2203	4300	6503	SO:0001583	missense	7024	0	0					g.chr12:51502943C>A	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.678G>T	chr12.hg19:g.51502943C>A	ENSP00000257915:p.Glu226Asp	0					TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D|TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron	p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	1	2	3	2.002308	Q12800	TFCP2_HUMAN		6	1136	-			A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	1	1	hg19	c.678G>T	CCDS8808.1	1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047049	0.55110	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.18174	2.23;2.23;2.23	5.45	2.6	0.31112	5.45	2.6	0.31112	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.47016	1.485	0.80722	D	1	B;D;B	0.71674	0.022;0.998;0.016	B;D;B	0.78314	0.03;0.991;0.059	T	0.01839	-1.1263	10	0.23891	T	0.37	-22.8115	9.453	0.38739	0.0:0.6972:0.0:0.3028	.	226;226;226	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	D	226;226;128	ENSP00000257915:E226D;ENSP00000449742:E226D;ENSP00000449280:E128D	ENSP00000257915:E226D	E	-	3	2	2	TFCP2	49789210	49789210	0.530000	0.26330	1.000000	0.80357	0.980000	0.70556	-0.191000	0.09601	0.803000	0.34113	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_005653			84	84		420	408	1		1	1		0	0	93	0		1	9.999815e-01	0	36	0	44	0	84	420
TFCP2	7024	broad.mit.edu	37	12	51566352	51566352	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51566352G>T	ENST00000257915.5	-	0	312				TFCP2_ENST00000307660.4_De_novo_Start_InFrame|TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000549867.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2						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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGCCCGACCAGCACTGCTCTG	0.577																																						ENST00000257915.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				23								transcription factor CP2																																						7024	0	0					g.chr12:51566352G>T	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		chr12.hg19:g.51566352G>T		0					TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000307660.4_De_novo_Start_InFrame		NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	1	2	3	2.002308	Q12800	TFCP2_HUMAN		0	312	-			A8K5E9|Q12801|Q9UD75|Q9UD77	Translation_Start_Site	SNP	ENST00000257915.5	0	1	hg19		CCDS8808.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_005653			16	16		45	42	0		1	1		0	0	11	0		9.999588e-01	9.998400e-01	0	17	0	32	0	16	45
POU6F1	5463	broad.mit.edu	37	12	51585522	51585522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000333640.10_Silent_p.E139E|POU6F1_ENST00000550824.1_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542																																						ENST00000389243.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(415-417)gaG>gaA		POU class 6 homeobox 1							108.0	107.0	107.0					12																	51585522		2203	4300	6503	SO:0001819	synonymous_variant	5463	0	0					g.chr12:51585522C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.417G>A	chr12.hg19:g.51585522C>T		0					POU6F1_ENST00000550824.1_Silent_p.E139E|POU6F1_ENST00000333640.10_Silent_p.E139E	p.E139E			1	2	3	2.002308	Q14863	PO6F1_HUMAN		10	1356	-			Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	1	1	hg19	c.417G>A	CCDS31803.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	1	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-3.215314	1	0.170000	NM_002702			129	128		549	542	1		1	1		0	0	135	0		1	9.691391e-01	0	8	0	18	0	129	549
POU6F1	5463	broad.mit.edu	37	12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M|POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	29	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617																																						ENST00000389243.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996178	0.990000	1.000000																										0				11						c.(85-87)Gtg>Atg		POU class 6 homeobox 1							19.0	21.0	20.0					12																	51589917		2199	4296	6495	SO:0001583	missense	5463	0	0					g.chr12:51589917C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.85G>A	chr12.hg19:g.51589917C>T	ENSP00000373895:p.Val29Met	0					POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M	p.V29M			1	2	3	2.002308	Q14863	PO6F1_HUMAN		8	1024	-			Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	1	1	hg19	c.85G>A	CCDS31803.1	1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443141	0.43326	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.85484	-1.99;-1.99;-1.99	5.5	2.01	0.26516	5.5	2.01	0.26516	.	2.733070	0.01422	N	0.014403	T	0.76652	0.4017	N	0.22421	0.69	0.23356	N	0.997846	B	0.11235	0.004	B	0.11329	0.006	T	0.62515	-0.6838	10	0.38643	T	0.18	.	5.3209	0.15881	0.0:0.5829:0.1638:0.2533	.	29	Q14863	PO6F1_HUMAN	M	29	ENSP00000373895:V29M;ENSP00000330190:V29M;ENSP00000448389:V29M	ENSP00000330190:V29M	V	-	1	0	0	POU6F1	49876184	49876184	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-0.065000	0.11617	1.333000	0.45449	0.555000	0.69702	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.999670	1	0.170000	NM_002702			14	14		87	85	1		1	1		0	0	17	0		9.998018e-01	8.561543e-01	0	4	0	19	0	14	87
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.0					ENST00000293636.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(307-309)agC>agT		chymotrypsin-like elastase family, member 1		G		4,4402	9.9+/-24.2	0,4,2199	179.0	137.0	151.0		309	2.3	0.8	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA1	NM_001971.5		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		103/259	51736376	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1990	18	121412	46				g.chr12:51736376G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.309C>T	chr12.hg19:g.51736376G>A		0						p.S103S	NM_001971.5	NP_001962.3	1	2	3	2.002308	Q9UNI1	CELA1_HUMAN		4	349	-			Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	1	1	hg19	c.309C>T	CCDS8812.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-3.390784	1	0.170000	NM_001971			111	111		496	486	0		1			0	0	131	0		1	0	0	0	0	0	0	111	496
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	430					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)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542																																						ENST00000543196.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				27						c.(1288-1290)Cgc>Tgc		polypeptide N-acetylgalactosaminyltransferase 6							168.0	174.0	172.0					12																	51752996		2203	4300	6503	SO:0001583	missense	11226	2	121412	41				g.chr12:51752996G>A	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.1288C>T	chr12.hg19:g.51752996G>A	ENSP00000444171:p.Arg430Cys	0					GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C	p.R430C			1	2	3	2.002308	Q8NCL4	GALT6_HUMAN		7	1493	-			Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	1	1	hg19	c.1288C>T	CCDS8813.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814279	0.90790	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71103	-0.54;-0.54	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94155	0.7409	10	0.87932	D	0	.	16.6531	0.85222	0.0:0.0:1.0:0.0	.	430	Q8NCL4	GALT6_HUMAN	C	430;430;411	ENSP00000444171:R430C;ENSP00000348668:R430C	ENSP00000348668:R430C	R	-	1	0	0	GALNT6	50039263	50039263	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.638000	0.83328	2.661000	0.90470	0.561000	0.74099	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	1	0	1		2	2	2	0		0	0	245		245	244	1	2.060000	-20.000000	1	0.170000	NM_007210			155	152		1278	1255	1		1	1		0	0	245	0		1	8.733472e-01	0	3	0	29	0	155	1278
SCN8A	6334	broad.mit.edu	37	12	52080881	52080881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	164					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)			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)	ACAGGTACACGTTCACAGGGA	0.378																																						ENST00000354534.6	1.000000	0.750000	1	9.300000e-01	0.990000	0.972277	0.990000	1.000000																										0				55						c.(490-492)acG>acA		sodium channel, voltage gated, type VIII, alpha subunit	Valproic Acid(DB00313)						101.0	91.0	94.0					12																	52080881		1848	4088	5936	SO:0001819	synonymous_variant	6334	1	120800	31				g.chr12:52080881G>A	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.492G>A	chr12.hg19:g.52080881G>A		0					SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	1	2	3	2.002308	Q9UQD0	SCN8A_HUMAN		5	670	+			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	1	1	hg19	c.492G>A	CCDS44891.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014191			23	23		217	215	0		1	0		0	0	51	0		9.999995e-01	1.020304e-02	0	0	0	2	0	23	217
SCN8A	6334	broad.mit.edu	37	12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	584					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)			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)	AATGAGTTCGCGGATGACGAG	0.672																																						ENST00000354534.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				55						c.(1750-1752)gCg>gTg		sodium channel, voltage gated, type VIII, alpha subunit	Valproic Acid(DB00313)						12.0	18.0	16.0					12																	52115445		1991	4164	6155	SO:0001583	missense	6334	0	0					g.chr12:52115445C>T	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.1751C>T	chr12.hg19:g.52115445C>T	ENSP00000346534:p.Ala584Val	0					SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	1	2	3	2.002308	Q9UQD0	SCN8A_HUMAN		12	1929	+			B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	1	1	hg19	c.1751C>T	CCDS44891.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853357	0.91355	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	3.83	3.83	0.44106	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.125201	0.53938	D	0.000057	D	0.98966	0.9648	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	D;D;D;D	0.97110	0.915;0.944;0.972;1.0	D	0.99414	1.0931	10	0.72032	D	0.01	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	584;584;584;584	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	V	584;584;584;584;497;382	ENSP00000448415:A584V;ENSP00000346534:A584V;ENSP00000440360:A584V;ENSP00000347255:A584V;ENSP00000447567:A382V	ENSP00000346534:A584V	A	+	2	0	0	SCN8A	50401712	50401712	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	7.595000	0.82710	2.136000	0.66102	0.467000	0.42956	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014191			23	23		73	73	1		1			0	0	11	0		9.999998e-01	0	0	0	0	0	0	23	73
ACVRL1	94	broad.mit.edu	37	12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000388922.4	+	7	1238	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|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 heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617																																						ENST00000388922.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(955-957)Ggt>Agt		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						49.0	45.0	47.0					12																	52309191		2203	4300	6503	SO:0001583	missense	94	0	0					g.chr12:52309191G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.955G>A	chr12.hg19:g.52309191G>A	ENSP00000373574:p.Gly319Ser	0					ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S	p.G319S	NM_000020.2	NP_000011.2	1	2	3	2.002308	P37023	ACVL1_HUMAN		7	1238	+			A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	1	1	hg19	c.955G>A	CCDS31804.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436485	0.83885	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	5.09	5.09	0.68999	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.96648	0.8906	M	0.84511	2.7	0.58432	D	0.999993	D;D	0.64830	0.984;0.994	D;D	0.63113	0.911;0.911	D	0.96101	0.9069	10	0.46703	T	0.11	.	18.6856	0.91562	0.0:0.0:1.0:0.0	.	145;319	E7EN07;P37023	.;ACVL1_HUMAN	S	319;319;333;145;145	ENSP00000373574:G319S;ENSP00000447884:G333S;ENSP00000392492:G145S	ENSP00000267008:G319S	G	+	1	0	0	ACVRL1	50595458	50595458	0.999000	0.42202	0.969000	0.41365	0.921000	0.55340	3.458000	0.53014	2.826000	0.97356	0.563000	0.77884	GGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.176813	1	0.170000				53	52		208	206	1		1	0		0	0	48	0		1	1	0	1	0	140	0	53	208
ACVR1B	91	broad.mit.edu	37	12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000257963.4	+	2	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	86					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577																																						ENST00000257963.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(256-258)agC>agA		activin A receptor, type IB	Adenosine triphosphate(DB00171)						108.0	85.0	93.0					12																	52369215		2203	4300	6503	SO:0001583	missense	91	0	0					g.chr12:52369215C>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.258C>A	chr12.hg19:g.52369215C>A	ENSP00000257963:p.Ser86Arg	0					ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R	p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	1	2	3	2.002308	P36896	ACV1B_HUMAN		2	335	+			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	1	1	hg19	c.258C>A	CCDS8816.1	1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233134	0.58777	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.90732	0.39;0.39;0.39;-2.72;0.39;0.39	4.88	3.97	0.46021	4.88	3.97	0.46021	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.68317	2.08	0.58432	D	0.999998	B;B;D;D	0.55800	0.033;0.022;0.973;0.957	B;B;P;P	0.61800	0.048;0.076;0.894;0.865	D	0.91643	0.5328	10	0.42905	T	0.14	.	10.0775	0.42368	0.0:0.7754:0.0:0.2246	.	86;86;86;86	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	86;86;86;34;86;34	ENSP00000257963:S86R;ENSP00000442656:S86R;ENSP00000390477:S86R;ENSP00000443218:S34R;ENSP00000397550:S86R;ENSP00000442885:S34R	ENSP00000257963:S86R	S	+	3	2	2	ACVR1B	50655482	50655482	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.817000	0.27281	1.341000	0.45600	0.650000	0.86243	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_020328			48	46		219	217	1		1	1	1	0	0	61	1499		1	9.998884e-01	1	9	258	56	1225	48	219
ACVR1B	91	broad.mit.edu	37	12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413																																						ENST00000257963.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1201-1203)Gct>Act		activin A receptor, type IB	Adenosine triphosphate(DB00171)						129.0	125.0	127.0					12																	52380666		2203	4300	6503	SO:0001583	missense	91	0	0					g.chr12:52380666G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1201G>A	chr12.hg19:g.52380666G>A	ENSP00000257963:p.Ala401Thr	0					RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron	p.A401T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	1	2	3	2.002308	P36896	ACV1B_HUMAN		7	1278	+			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	1	1	hg19	c.1201G>A	CCDS8816.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	4.77	4.77	0.60923	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	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	0	ACVR1B	50666933	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_020328			86	85		385	378	1		1	1	1	0	0	81	375		1	9.998358e-01	1	9	59	50	351	86	385
GRASP	160622	broad.mit.edu	37	12	52407526	52407526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52407526G>T	ENST00000293662.4	+	5	590	c.510G>T	c.(508-510)gaG>gaT	p.E170D	GRASP_ENST00000380039.2_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCATCGAGAGATTGTGGACA	0.552																																						ENST00000293662.4	1.000000	0.230000	5.300000e-01	3.000000e-01	0.390000	0.442092	0.390000	0.390000																										0				5						c.(508-510)gaG>gaT		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							121.0	109.0	113.0					12																	52407526		2203	4300	6503	SO:0001583	missense	160622	0	0					g.chr12:52407526G>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.510G>T	chr12.hg19:g.52407526G>T	ENSP00000293662:p.Glu170Asp	0					GRASP_ENST00000380039.2_Missense_Mutation_p.E27D|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR	p.E170D	NM_181711.2	NP_859062.1	1	2	3	2.002308	Q7Z6J2	GRASP_HUMAN		5	590	+			Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	1	1	hg19	c.510G>T	CCDS8817.1	0	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306148	0.40795	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.48836	2.18;0.8;0.8;0.8	5.09	3.21	0.36854	5.09	3.21	0.36854	PDZ/DHR/GLGF (4);	0.103985	0.64402	D	0.000004	T	0.46151	0.1378	N	0.13299	0.325	0.45648	D	0.998574	D;D	0.76494	0.997;0.999	P;D	0.70016	0.885;0.967	T	0.38845	-0.9642	10	0.36615	T	0.2	-1.568	9.7665	0.40563	0.17:0.0:0.83:0.0	.	27;170	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	D	170;27;40;27	ENSP00000293662:E170D;ENSP00000449492:E27D;ENSP00000448476:E40D;ENSP00000369378:E27D	ENSP00000293662:E170D	E	+	3	2	2	GRASP	50693793	50693793	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.218000	0.32467	1.365000	0.46057	0.462000	0.41574	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1	0	0	1		2	2	2	0		0	0	105		105	101	1	2.060000	-14.572890	1	0.170000				16	16		476	468	0		1	0		0	0	105	0		9.999257e-01	7.486775e-01	0	0	0	81	0	16	476
NR4A1	3164	broad.mit.edu	37	12	52449883	52449883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52449883C>T	ENST00000243050.1	+	4	1260	c.946C>T	c.(946-948)Cga>Tga	p.R316*	NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.R370*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding 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)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAAGAGGCGGCGAAACCGCTG	0.632																																						ENST00000243050.1	1.000000	0.310000	6.200000e-01	3.900000e-01	0.480000	0.523829	0.480000	0.470000																										0				16						c.(946-948)Cga>Tga		nuclear receptor subfamily 4, group A, member 1							85.0	80.0	82.0					12																	52449883		2203	4300	6503	SO:0001587	stop_gained	3164	0	0					g.chr12:52449883C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.946C>T	chr12.hg19:g.52449883C>T	ENSP00000243050:p.Arg316*	0					NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.R370*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*	p.R316*	NM_002135.4	NP_002126.2	1	2	3	2.002308	P22736	NR4A1_HUMAN		4	1260	+			B4DML7|Q15627|Q53Y00|Q6IBU8	Nonsense_Mutation	SNP	ENST00000243050.1	0	1	hg19	c.946C>T	CCDS8818.1	0	.	.	.	.	.	.	.	.	.	.	C	38	7.216842	0.98143	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	4.27	3.35	0.38373	4.27	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4197	0.49974	0.3237:0.6763:0.0:0.0	.	.	.	.	X	329;370;329;316;316;316	.	ENSP00000243050:R316X	R	+	1	2	2	NR4A1	50736150	50736150	0.472000	0.25870	1.000000	0.80357	0.994000	0.84299	-0.028000	0.12350	1.340000	0.45581	0.561000	0.74099	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-3.838870	1	0.170000				22	21		526	517	0		1	1		0	0	108	0		9.999985e-01	9.955634e-01	0	2	0	203	0	22	526
NR4A1	3164	broad.mit.edu	37	12	52450304	52450304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450304C>T	ENST00000243050.1	+	5	1347	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000545748.1_Missense_Mutation_p.R399W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	345					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding 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)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGAAGGGGCGGCGGGGCCG	0.627																																						ENST00000243050.1	1.000000	0.270000	5.000000e-01	3.300000e-01	0.400000	0.445741	0.400000	0.390000																										0				16						c.(1033-1035)Cgg>Tgg		nuclear receptor subfamily 4, group A, member 1							73.0	81.0	78.0					12																	52450304		2203	4300	6503	SO:0001583	missense	3164	0	0					g.chr12:52450304C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1033C>T	chr12.hg19:g.52450304C>T	ENSP00000243050:p.Arg345Trp	0					NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|NR4A1_ENST00000545748.1_Missense_Mutation_p.R399W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W	p.R345W	NM_002135.4	NP_002126.2	1	2	3	2.002308	P22736	NR4A1_HUMAN		5	1347	+			B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	1	1	hg19	c.1033C>T	CCDS8818.1	0	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845760	0.71603	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.27	4.27	0.50696	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70288	-0.4913	10	0.87932	D	0	.	11.7537	0.51863	0.1767:0.8233:0.0:0.0	.	358;345	B4DML7;P22736	.;NR4A1_HUMAN	W	358;399;358;345;345;345	ENSP00000353427:R358W;ENSP00000440864:R399W;ENSP00000449539:R358W;ENSP00000243050:R345W;ENSP00000378302:R345W;ENSP00000378301:R345W	ENSP00000243050:R345W	R	+	1	2	2	NR4A1	50736571	50736571	0.363000	0.24989	0.990000	0.47175	0.982000	0.71751	0.963000	0.29293	2.667000	0.90743	0.561000	0.74099	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	0	0	0		2	2	2	0		0	0	141		141	139	1	2.060000	-3.316390	1	0.170000				29	28		836	822	0		1	1		0	0	141	0		1	9.734236e-01	0	2	0	167	0	29	836
NR4A1	3164	broad.mit.edu	37	12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000243050.1	+	5	1443	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	377					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding 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)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627																																						ENST00000243050.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1129-1131)Ccc>Tcc		nuclear receptor subfamily 4, group A, member 1							85.0	80.0	82.0					12																	52450400		2203	4300	6503	SO:0001583	missense	3164	0	0					g.chr12:52450400C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1129C>T	chr12.hg19:g.52450400C>T	ENSP00000243050:p.Pro377Ser	0					NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S	p.P377S	NM_002135.4	NP_002126.2	1	2	3	2.002308	P22736	NR4A1_HUMAN		5	1443	+			B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	1	1	hg19	c.1129C>T	CCDS8818.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.122481	0.94429	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	4.94	4.94	0.65067	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.709	D;P	0.87578	0.998;0.609	T	0.69514	-0.5125	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	390;377	B4DML7;P22736	.;NR4A1_HUMAN	S	390;431;390;377;377;377	ENSP00000353427:P390S;ENSP00000440864:P431S;ENSP00000449539:P390S;ENSP00000243050:P377S;ENSP00000378302:P377S;ENSP00000378301:P377S	ENSP00000243050:P377S	P	+	1	0	0	NR4A1	50736667	50736667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.578000	0.67450	2.735000	0.93741	0.655000	0.94253	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	1	0	0		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000				71	71		410	396	1		1	1		0	0	118	0		1	9.999999e-01	0	22	0	111	0	71	410
ATG101	60673	broad.mit.edu	37	12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		97					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572																																						ENST00000336854.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(289-291)Cag>Tag									98.0	87.0	90.0					12																	52470606		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr12:52470606C>T																												ENST00000336854.4:c.289C>T	chr12.hg19:g.52470606C>T	ENSP00000338990:p.Gln97*	0					OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	p.Q97*	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	1	2	3	2.002308	Q9BSB4	ATGA1_HUMAN		4	767	+			Q9HAE2|Q9HBN1	Nonsense_Mutation	SNP	ENST00000336854.4	0	1	hg19	c.289C>T	CCDS8820.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999222	0.93227	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0403	16.5961	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000338990:Q97X	Q	+	1	0	0	C12orf44	50756873	50756873	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.252000	0.78309	2.507000	0.84556	0.655000	0.94253	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000				51	50		242	241	0		1	1		0	0	56	0		1	1	0	11	0	244	0	51	242
KRT80	144501	broad.mit.edu	37	12	52567487	52567487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52567487C>T	ENST00000394815.2	-	5	825	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KRT80_ENST00000313234.5_Missense_Mutation_p.R243H	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	243	Linker 12.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GATGTGGCAGCGGCTGTCCAT	0.667																																					GBM(178;2309 2916 15678 35873)	ENST00000394815.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(727-729)cGc>cAc		keratin 80							74.0	62.0	66.0					12																	52567487		2203	4298	6501	SO:0001583	missense	144501	10	121368	39				g.chr12:52567487C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.728G>A	chr12.hg19:g.52567487C>T	ENSP00000378292:p.Arg243His	0					KRT80_ENST00000313234.5_Missense_Mutation_p.R243H	p.R243H	NM_182507.2	NP_872313.2	1	2	3	2.002308	Q6KB66	K2C80_HUMAN		5	825	-			Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	1	0	hg19	c.728G>A	CCDS8821.2	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137927	0.56936	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	T;T	0.75589	-0.95;-0.95	4.23	2.39	0.29439	4.23	2.39	0.29439	Filament (1);	0.201326	0.25040	N	0.033609	T	0.60301	0.2258	N	0.12182	0.205	0.30603	N	0.760335	B;B;D	0.64830	0.008;0.009;0.994	B;B;P	0.51415	0.003;0.005;0.669	T	0.61763	-0.6996	10	0.87932	D	0	.	4.1464	0.10217	0.0:0.3747:0.3399:0.2853	.	243;243;278	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	H	243	ENSP00000369361:R243H;ENSP00000378292:R243H	ENSP00000369361:R243H	R	-	2	0	0	KRT80	50853754	50853754	0.878000	0.30173	0.998000	0.56505	0.526000	0.34562	0.185000	0.16958	0.560000	0.29169	-1.149000	0.01842	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.170756	0	0.170000	NM_182507			77	77		374	367	1		1	1		0	0	76	0		1	9.998394e-01	0	24	0	40	0	77	374
KRT7	3855	broad.mit.edu	37	12	52627084	52627084	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	ENST00000331817.5	+	1	187	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	2	Head.				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)			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)	AGCCACCATGTCCATCCACTT	0.731																																						ENST00000331817.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				14						c.(4-6)Tcc>Ccc		keratin 7	Primaquine(DB01087)						15.0	16.0	16.0					12																	52627084		2199	4293	6492	SO:0001583	missense	3855	0	0					g.chr12:52627084T>C		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.4T>C	chr12.hg19:g.52627084T>C	ENSP00000329243:p.Ser2Pro	0						p.S2P	NM_005556.3	NP_005547.3	1	2	3	2.002308	P08729	K2C7_HUMAN		1	187	+			Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	1	1	hg19	c.4T>C	CCDS8822.1	1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247250	0.59103	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.83673	-1.75	4.37	4.37	0.52481	4.37	4.37	0.52481	.	.	.	.	.	D	0.86414	0.5927	M	0.67700	2.07	0.34535	D	0.709599	D;D	0.57571	0.98;0.966	P;P	0.56700	0.804;0.641	D	0.90410	0.4409	9	0.87932	D	0	.	9.5221	0.39143	0.0:0.0:0.1774:0.8226	.	2;2	F8VZY5;P08729	.;K2C7_HUMAN	P	2	ENSP00000329243:S2P	ENSP00000329243:S2P	S	+	1	0	0	KRT7	50913351	50913351	0.997000	0.39634	0.991000	0.47740	0.050000	0.14768	1.075000	0.30716	1.977000	0.57605	0.375000	0.23000	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_005556			22	21		104	102	0		1	1		0	0	16	0		9.999992e-01	9.993687e-01	0	23	0	37	0	22	104
KRT81	3887	broad.mit.edu	37	12	52685244	52685244	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	2	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647																																						ENST00000327741.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				16						c.(4-6)acC>acA		keratin 81							27.0	31.0	30.0					12																	52685244		2178	4236	6414	SO:0001819	synonymous_variant	3887	0	0					g.chr12:52685244G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.6C>A	chr12.hg19:g.52685244G>T		0					KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.T2T	NM_002281.3	NP_002272.2	1	2	3	2.002308	Q14533	KRT81_HUMAN		1	74	-			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	1	1	hg19	c.6C>A	CCDS31805.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_002281			24	22		96	94	1		1			0	0	33	0		9.999998e-01	0	0	0	0	0	0	24	96
KRT86	3892	broad.mit.edu	37	12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000423955.2	+	11	1529	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|KRT86_ENST00000293525.5_Missense_Mutation_p.T451A			O43790	KRT86_HUMAN	keratin 86	451	Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667																																						ENST00000423955.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1351-1353)Acc>Gcc		keratin 86							22.0	27.0	26.0					12																	52702259		2199	4295	6494	SO:0001583	missense	3892	0	0					g.chr12:52702259A>G	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1351A>G	chr12.hg19:g.52702259A>G	ENSP00000444533:p.Thr451Ala	0					KRT86_ENST00000293525.5_Missense_Mutation_p.T451A|KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|RP11-845M18.6_ENST00000552441.1_RNA	p.T451A			1	2	3	2.002308	O43790	KRT86_HUMAN		11	1529	+			P78387	Missense_Mutation	SNP	ENST00000423955.2	1	1	hg19	c.1351A>G	CCDS41785.1	1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220419	0.22457	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81247	-1.47;-1.47;-1.47	5.42	-0.186	0.13272	5.42	-0.186	0.13272	.	0.281067	0.25225	U	0.032219	T	0.64605	0.2613	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.22109	T	0.4	.	8.6059	0.33773	0.6135:0.0:0.3865:0.0	.	451	O43790	KRT86_HUMAN	A	451	ENSP00000443169:T451A;ENSP00000444533:T451A;ENSP00000293525:T451A	ENSP00000293525:T451A	T	+	1	0	0	AC021066.1;KRT86	50988526	50988526	0.000000	0.05858	0.308000	0.25141	0.577000	0.36160	-0.796000	0.04575	0.016000	0.14998	-0.379000	0.06801	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_002284			39	38		174	174	0		1	1		0	0	25	0		1	7.882668e-01	0	2	0	13	0	39	174
KRT83	3889	broad.mit.edu	37	12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	262	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(784-786)aCc>aAc		keratin 83							148.0	129.0	135.0					12																	52710773		2203	4300	6503	SO:0001583	missense	3889	0	0					g.chr12:52710773G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.785C>A	chr12.hg19:g.52710773G>T	ENSP00000293670:p.Thr262Asn	0						p.T262N	NM_002282.3	NP_002273.3	1	2	3	2.002308	P78385	KRT83_HUMAN		5	847	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	1	1	hg19	c.785C>A	CCDS8823.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886649	0.72410	.	.	ENSG00000170523	ENST00000293670	T	0.77229	-1.08	3.9	3.0	0.34707	3.9	3.0	0.34707	Filament (1);	0.164011	0.28332	U	0.015740	D	0.89646	0.6775	H	0.95504	3.68	0.39581	D	0.969431	P	0.49559	0.925	P	0.61658	0.892	D	0.91465	0.5192	10	0.87932	D	0	.	11.594	0.50962	0.0897:0.0:0.9103:0.0	.	262	P78385	KRT83_HUMAN	N	262	ENSP00000293670:T262N	ENSP00000293670:T262N	T	-	2	0	0	KRT83	50997040	50997040	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	5.582000	0.67477	0.763000	0.33175	0.561000	0.74099	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	0	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_002282			96	95		418	411	1		1			0	0	130	0		1	0	0	0	0	0	0	96	418
KRT83	3889	broad.mit.edu	37	12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	9	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(25-27)Ggc>Agc		keratin 83							58.0	59.0	58.0					12																	52715095		2199	4298	6497	SO:0001583	missense	3889	1	121404	38				g.chr12:52715095C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.25G>A	chr12.hg19:g.52715095C>T	ENSP00000293670:p.Gly9Ser	0						p.G9S	NM_002282.3	NP_002273.3	1	2	3	2.002308	P78385	KRT83_HUMAN		1	87	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	1	1	hg19	c.25G>A	CCDS8823.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545433	0.00926	.	.	ENSG00000170523	ENST00000293670	D	0.88354	-2.37	3.26	1.37	0.22104	3.26	1.37	0.22104	.	.	.	.	.	T	0.68229	0.2978	N	0.04297	-0.235	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.57849	-0.7740	9	0.02654	T	1	.	2.928	0.05791	0.2924:0.4635:0.1483:0.0957	.	9	P78385	KRT83_HUMAN	S	9	ENSP00000293670:G9S	ENSP00000293670:G9S	G	-	1	0	0	KRT83	51001362	51001362	0.000000	0.05858	0.076000	0.20297	0.008000	0.06430	-0.283000	0.08433	0.221000	0.20879	-1.186000	0.01703	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.417175	1	0.170000	NM_002282			109	108		478	467	1		1			0	0	89	0		1	0	0	0	0	0	0	109	478
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R162S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622																																						ENST00000257901.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R162S(1)	lung(1)	36						c.(484-486)Cgc>Tgc		keratin 85							51.0	52.0	52.0					12																	52758891		2203	4300	6503	SO:0001583	missense	3891	3	121412	39				g.chr12:52758891G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.484C>T	chr12.hg19:g.52758891G>A	ENSP00000257901:p.Arg162Cys	0					KRT85_ENST00000544265.1_5'Flank	p.R162C	NM_002283.3	NP_002274.1	1	2	3	2.002308	P78386	KRT85_HUMAN		2	559	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	1	1	hg19	c.484C>T	CCDS8824.1	1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591234	0.46214	.	.	ENSG00000135443	ENST00000257901	T	0.76186	-1.0	4.51	-1.86	0.07760	4.51	-1.86	0.07760	Filament (1);	2.754660	0.00855	N	0.001868	T	0.78780	0.4337	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.58820	0.846	T	0.66705	-0.5856	10	0.87932	D	0	.	8.8268	0.35061	0.0:0.1999:0.195:0.6051	.	162	P78386	KRT85_HUMAN	C	162	ENSP00000257901:R162C	ENSP00000257901:R162C	R	-	1	0	0	KRT85	51045158	51045158	0.001000	0.12720	0.000000	0.03702	0.413000	0.31143	-0.345000	0.07770	-0.134000	0.11516	0.491000	0.48974	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_002283			95	95		344	338	1		1			0	0	88	0		1	0	0	0	0	0	0	95	344
KRT82	3888	broad.mit.edu	37	12	52793859	52793859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	284	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCCGTCCACGTCCAGCTCCC	0.612																																						ENST00000257974.2	1.000000	0.220000	5.200000e-01	2.900000e-01	0.390000	0.433181	0.390000	0.370000																										0				29						c.(850-852)gaC>gaT		keratin 82							101.0	85.0	90.0					12																	52793859		2203	4300	6503	SO:0001819	synonymous_variant	3888	2	121412	38				g.chr12:52793859G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.852C>T	chr12.hg19:g.52793859G>A		0					RP3-416H24.4_ENST00000547174.1_RNA	p.D284D	NM_033033.3	NP_149022.3	1	2	3	2.002308	Q9NSB4	KRT82_HUMAN		5	929	-				Silent	SNP	ENST00000257974.2	1	1	hg19	c.852C>T	CCDS8826.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-13.772440	1	0.170000	NM_033033			15	13		459	450	0		1			0	0	82	0		9.998512e-01	0	0	0	0	0	0	15	459
KRT82	3888	broad.mit.edu	37	12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	25	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632																																						ENST00000257974.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				29						c.(73-75)cCc>cTc		keratin 82							36.0	32.0	33.0					12																	52799988		2202	4298	6500	SO:0001583	missense	3888	0	0					g.chr12:52799988G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.74C>T	chr12.hg19:g.52799988G>A	ENSP00000257974:p.Pro25Leu	0					RP11-1020M18.10_ENST00000548135.1_RNA	p.P25L	NM_033033.3	NP_149022.3	1	2	3	2.002308	Q9NSB4	KRT82_HUMAN		1	151	-				Missense_Mutation	SNP	ENST00000257974.2	1	1	hg19	c.74C>T	CCDS8826.1	1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785530	0.70337	.	.	ENSG00000161850	ENST00000257974	D	0.82526	-1.62	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.87265	0.6134	L	0.48986	1.54	0.58432	D	0.999992	D	0.62365	0.991	P	0.58013	0.831	D	0.87670	0.2540	10	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	25	Q9NSB4	KRT82_HUMAN	L	25	ENSP00000257974:P25L	ENSP00000257974:P25L	P	-	2	0	0	KRT82	51086255	51086255	0.077000	0.21312	0.570000	0.28473	0.419000	0.31324	1.176000	0.31957	2.571000	0.86741	0.655000	0.94253	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_033033			27	27		133	130	1		1			0	0	27	0		1	0	0	0	0	0	0	27	133
KRT6C	286887	broad.mit.edu	37	12	52863465	52863465	+	Silent	SNP	G	G	A	rs371806019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582																																						ENST00000252250.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1411-1413)ggC>ggT		keratin 6C		G		0,4406		0,0,2203	98.0	88.0	91.0		1413	-1.2	1.0	12		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		471/565	52863465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286887	29	121412	41				g.chr12:52863465G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1413C>T	chr12.hg19:g.52863465G>A		0						p.G471G	NM_173086.4	NP_775109.2	1	2	3	2.002308	P48668	K2C6C_HUMAN		7	1460	-			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	1	1	hg19	c.1413C>T	CCDS8829.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_173086			92	84		472	464	1		1			0	0	149	0		1	0	0	0	0	0	0	92	472
KRT6C	286887	broad.mit.edu	37	12	52864412	52864412	+	Silent	SNP	G	G	A	rs371866175	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	ENST00000252250.6	-	6	1127	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	360	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCAGCTCCTCGTACTGCAGCC	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22915	0.0		0.0	False		,,,				2504	0.001					ENST00000252250.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				23						c.(1078-1080)taC>taT		keratin 6C		G		1,4403	2.1+/-5.4	0,1,2201	70.0	63.0	65.0		1080	-2.9	1.0	12		65	2,8558	2.2+/-6.3	0,2,4278	no	coding-synonymous	KRT6C	NM_173086.4		0,3,6479	AA,AG,GG		0.0234,0.0227,0.0231		360/565	52864412	3,12961	2202	4280	6482	SO:0001819	synonymous_variant	286887	21	121378	42				g.chr12:52864412G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1080C>T	chr12.hg19:g.52864412G>A		0						p.Y360Y	NM_173086.4	NP_775109.2	1	2	3	2.002308	P48668	K2C6C_HUMAN		6	1127	-			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	0	1	hg19	c.1080C>T	CCDS8829.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	0	0	1		2	2	2	0		0	0	86		86	147	1	2.060000	-5.491565	1	0.170000	NM_173086			58	46		334	263	0		1			0	0	86	0		1	0	0	0	0	0	0	58	334
KRT6A	3853	broad.mit.edu	37	12	52886914	52886914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	ENST00000330722.6	-	1	127	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	20	Head.				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)			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)		GGCTGAGTTGGCACTGAAACC	0.647																																						ENST00000330722.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(58-60)gCc>gTc		keratin 6A							21.0	27.0	25.0					12																	52886914		2187	4275	6462	SO:0001583	missense	3853	0	0					g.chr12:52886914G>A	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.59C>T	chr12.hg19:g.52886914G>A	ENSP00000369317:p.Ala20Val	0						p.A20V	NM_005554.3	NP_005545.1	1	2	3	2.002308	P02538	K2C6A_HUMAN		1	127	-			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	1	1	hg19	c.59C>T	CCDS41786.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035418	0.35893	.	.	ENSG00000205420	ENST00000330722	T	0.60797	0.16	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.565980	0.16908	N	0.194583	T	0.58495	0.2126	L	0.56769	1.78	0.09310	N	0.999999	B	0.16603	0.018	B	0.19391	0.025	T	0.49707	-0.8911	10	0.37606	T	0.19	.	19.2638	0.93979	0.0:0.0:1.0:0.0	.	20	P02538	K2C6A_HUMAN	V	20	ENSP00000369317:A20V	ENSP00000369317:A20V	A	-	2	0	0	KRT6A	51173181	51173181	0.998000	0.40836	0.282000	0.24776	0.297000	0.27493	6.746000	0.74866	2.626000	0.88956	0.549000	0.68633	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	0	0	1		2	2	2	0		0	0	44		44	61	1	2.060000	-20.000000	1	0.170000	NM_005554			58	49		273	241	0		1	0		0	0	44	0		1	0	0	0	0	1	0	58	273
KRT5	3852	broad.mit.edu	37	12	52908948	52908948	+	Silent	SNP	G	G	A	rs368027956|rs577328983	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	517	Tail.		G -> D (in K-EBS). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13264	0.0		0.0	False		,,,				2504	0.0					ENST00000252242.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(1549-1551)ggC>ggT		keratin 5				3,4403	6.2+/-15.9	0,3,2200	36.0	34.0	34.0		1551	-11.1	0.0	12		34	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		517/591	52908948	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3852	9	121296	38				g.chr12:52908948G>A		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.1551C>T	chr12.hg19:g.52908948G>A		0						p.G517G	NM_000424.3	NP_000415.2	1	2	3	2.002308	P13647	K2C5_HUMAN		9	1941	-			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	1	1	hg19	c.1551C>T	CCDS8830.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				35	32		163	160	1		1	0		0	0	20	0		1	2.219353e-01	0	0	0	5	0	35	163
KRT5	3852	broad.mit.edu	37	12	52913904	52913904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	59	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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647																																						ENST00000252242.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(175-177)ggC>ggT		keratin 5							45.0	60.0	55.0					12																	52913904		2201	4293	6494	SO:0001819	synonymous_variant	3852	0	0					g.chr12:52913904G>A		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.177C>T	chr12.hg19:g.52913904G>A		0						p.G59G	NM_000424.3	NP_000415.2	1	2	3	2.002308	P13647	K2C5_HUMAN		1	567	-			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	1	1	hg19	c.177C>T	CCDS8830.1	1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635730	0.14322	.	.	ENSG00000186081	ENST00000456000	.	.	.	5.93	4.1	0.47936	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2039	0.43101	0.2044:0.0:0.7956:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KRT5	51200171	51200171	0.992000	0.36948	0.814000	0.32528	0.075000	0.17131	0.863000	0.27913	0.836000	0.34901	-0.136000	0.14681	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-20.000000	1	0.170000				253	231		392	378	1		1	0		0	0	102	0		1	9.472901e-01	0	0	0	10	0	253	392
KRT73	319101	broad.mit.edu	37	12	53010165	53010165	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1		RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			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)		GGAACCGCACCTGGAACCCAT	0.507																																						ENST00000305748.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.e2-1		keratin 73							78.0	74.0	75.0					12																	53010165		2203	4300	6503	SO:0001630	splice_region_variant	319101	0	0					g.chr12:53010165C>T	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.448-1G>A	chr12.hg19:g.53010165C>T		0					RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA		NM_175068.2	NP_778238.1	1	2	3	2.002308	Q86Y46	K2C73_HUMAN		2	482	-			Q32MB2	Splice_Site	SNP	ENST00000305748.3	1	1	hg19		CCDS8834.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658507	0.67586	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.82	3.92	0.45320	4.82	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5438	0.61690	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	.	KRT73	51296432	51296432	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.713000	0.84693	1.347000	0.45714	0.561000	0.74099	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_175068	Intron		87	85		292	290	1		1			0	0	73	0		1	0	0	0	0	0	0	87	292
KRT2	3849	broad.mit.edu	37	12	53040535	53040535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	486	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622																																						ENST00000309680.3	1.000000	0.630000	1	7.400000e-01	0.870000	0.868127	0.870000	1.000000																										0				32						c.(1456-1458)ggC>ggT		keratin 2							85.0	77.0	79.0					12																	53040535		2203	4300	6503	SO:0001819	synonymous_variant	3849	3	121412	37				g.chr12:53040535G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1458C>T	chr12.hg19:g.53040535G>A		0						p.G486G	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		7	1479	-			Q4VAQ2	Silent	SNP	ENST00000309680.3	1	1	hg19	c.1458C>T	CCDS8835.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	0	1		16	2	2	1		1	1	135		135	133	1	2.060000	-10.242630	1	0.170000	NM_000423			44	42		562	546	0		1			1	0	135	0		9.999246e-01	0	0	0	0	0	0	44	562
KRT2	3849	broad.mit.edu	37	12	53042884	53042884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	288	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517																																						ENST00000309680.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(862-864)gaC>gaT		keratin 2							126.0	97.0	107.0					12																	53042884		2203	4300	6503	SO:0001819	synonymous_variant	3849	2	121412	35				g.chr12:53042884G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.864C>T	chr12.hg19:g.53042884G>A		0						p.D288D	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		4	885	-			Q4VAQ2	Silent	SNP	ENST00000309680.3	1	1	hg19	c.864C>T	CCDS8835.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.302489	1	0.170000	NM_000423			54	51		251	247	1		1			0	0	57	0		1	0	0	0	0	0	0	54	251
KRT2	3849	broad.mit.edu	37	12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	275	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433																																						ENST00000309680.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(823-825)cGc>cAc		keratin 2							166.0	145.0	152.0					12																	53043735		2203	4300	6503	SO:0001583	missense	3849	0	0					g.chr12:53043735C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.824G>A	chr12.hg19:g.53043735C>T	ENSP00000310861:p.Arg275His	0						p.R275H	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		3	845	-			Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	1	1	hg19	c.824G>A	CCDS8835.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000172867	ENST00000309680	D	0.89939	-2.59	5.44	3.59	0.41128	5.44	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94046	0.8092	M	0.86268	2.805	0.36264	D	0.854743	D	0.89917	1.0	D	0.87578	0.998	D	0.95264	0.8371	9	0.72032	D	0.01	.	10.6753	0.45783	0.1324:0.7989:0.0:0.0687	.	275	P35908	K22E_HUMAN	H	275	ENSP00000310861:R275H	ENSP00000310861:R275H	R	-	2	0	0	KRT2	51330002	51330002	0.990000	0.36364	0.990000	0.47175	0.815000	0.46073	3.796000	0.55507	0.777000	0.33496	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_000423			64	63		326	321	1		1	0		0	0	64	0		1	0	0	0	0	1	0	64	326
KRT2	3849	broad.mit.edu	37	12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	251	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483																																						ENST00000309680.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(751-753)aAt>aCt		keratin 2							219.0	213.0	215.0					12																	53044171		2203	4300	6503	SO:0001583	missense	3849	0	0					g.chr12:53044171T>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.752A>C	chr12.hg19:g.53044171T>G	ENSP00000310861:p.Asn251Thr	0						p.N251T	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		2	773	-			Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	1	1	hg19	c.752A>C	CCDS8835.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.211168	0.95069	.	.	ENSG00000172867	ENST00000309680	D	0.88124	-2.34	5.19	4.05	0.47172	5.19	4.05	0.47172	Filament (1);	.	.	.	.	D	0.89054	0.6606	L	0.54323	1.7	0.29659	N	0.843393	P	0.46064	0.872	P	0.53988	0.739	D	0.84714	0.0736	9	0.72032	D	0.01	.	11.0304	0.47769	0.0:0.0735:0.0:0.9265	.	251	P35908	K22E_HUMAN	T	251	ENSP00000310861:N251T	ENSP00000310861:N251T	N	-	2	0	0	KRT2	51330438	51330438	1.000000	0.71417	0.009000	0.14445	0.905000	0.53344	6.096000	0.71446	0.943000	0.37553	0.528000	0.53228	AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_000423			198	196		847	835	1		1			0	0	158	0		1	0	0	0	0	0	0	198	847
KRT2	3849	broad.mit.edu	37	12	53045633	53045633	+	Silent	SNP	G	G	T	rs182369139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045633G>T	ENST00000309680.3	-	1	315	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	98	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		agctgctgccgcctccaaaac	0.627																																						ENST00000309680.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994317	0.990000	1.000000																										0				32						c.(292-294)ggC>ggA		keratin 2							51.0	33.0	39.0					12																	53045633		2198	4298	6496	SO:0001819	synonymous_variant	3849	2	120846	29				g.chr12:53045633G>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.294C>A	chr12.hg19:g.53045633G>T		0						p.G98G	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		1	315	-			Q4VAQ2	Silent	SNP	ENST00000309680.3	0	1	hg19	c.294C>A	CCDS8835.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1		2	2	2	0		0	0	9		9	10	1	2.060000	-4.497188	1	0.170000	NM_000423			15	15		102	101	0		1			0	0	9	0		9.999031e-01	0	0	0	0	0	0	15	102
KRT2	3849	broad.mit.edu	37	12	53045841	53045841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	ENST00000309680.3	-	1	107	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACCAGACACCACAGCTGA	0.597																																						ENST00000309680.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				32						c.(85-87)gTg>gCg		keratin 2							34.0	37.0	36.0					12																	53045841		2203	4300	6503	SO:0001583	missense	3849	0	0					g.chr12:53045841A>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.86T>C	chr12.hg19:g.53045841A>G	ENSP00000310861:p.Val29Ala	0						p.V29A	NM_000423.2	NP_000414.2	1	2	3	2.002308	P35908	K22E_HUMAN		1	107	-			Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	0	1	hg19	c.86T>C	CCDS8835.1	1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770392	0.31320	.	.	ENSG00000172867	ENST00000309680	D	0.81908	-1.55	5.28	1.42	0.22433	5.28	1.42	0.22433	.	.	.	.	.	T	0.75679	0.3882	L	0.58354	1.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.58691	-0.7592	9	0.24483	T	0.36	.	5.7596	0.18192	0.5801:0.1323:0.2876:0.0	.	29	P35908	K22E_HUMAN	A	29	ENSP00000310861:V29A	ENSP00000310861:V29A	V	-	2	0	0	KRT2	51332108	51332108	0.020000	0.18652	0.001000	0.08648	0.963000	0.63663	1.979000	0.40608	0.058000	0.16222	0.379000	0.24179	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_000423			27	25		125	123	0		1			0	0	19	0		1	0	0	0	0	0	0	27	125
KRT1	3848	broad.mit.edu	37	12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	503	Gly/Ser-rich.|Tail.				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)			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						GTACTTACACACACTCACGTT	0.498																																						ENST00000252244.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1507-1509)gTg>gCg		keratin 1							119.0	104.0	109.0					12																	53069496		2203	4300	6503	SO:0001583	missense	3848	0	0					g.chr12:53069496A>G	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.1508T>C	chr12.hg19:g.53069496A>G	ENSP00000252244:p.Val503Ala	0						p.V503A	NM_006121.3	NP_006112.3	1	2	3	2.002308	P04264	K2C1_HUMAN		8	1566	-			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	1	1	hg19	c.1508T>C	CCDS8836.1	1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887959	0.33348	.	.	ENSG00000167768	ENST00000252244	D	0.86030	-2.06	4.55	4.55	0.56014	4.55	4.55	0.56014	.	.	.	.	.	T	0.74183	0.3683	N	0.14661	0.345	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.68284	-0.5449	9	0.87932	D	0	.	10.6929	0.45882	0.8572:0.0:0.0:0.1428	.	503	P04264	K2C1_HUMAN	A	503	ENSP00000252244:V503A	ENSP00000252244:V503A	V	-	2	0	0	KRT1	51355763	51355763	0.968000	0.33430	0.754000	0.31244	0.440000	0.31957	3.630000	0.54273	1.812000	0.52913	0.379000	0.24179	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-20.000000	1	0.170000	NM_006121			91	91		443	435	1		1			0	0	88	0		1	0	0	0	0	0	0	91	443
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		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)			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						TCCCTTTCTCGAGACTTCACC	0.498																																						ENST00000252244.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(535-537)Cga>Tga		keratin 1							255.0	238.0	244.0					12																	53073598		2203	4300	6503	SO:0001587	stop_gained	3848	0	0					g.chr12:53073598G>A	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.535C>T	chr12.hg19:g.53073598G>A	ENSP00000252244:p.Arg179*	0						p.R179*	NM_006121.3	NP_006112.3	1	2	3	2.002308	P04264	K2C1_HUMAN		1	593	-			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Nonsense_Mutation	SNP	ENST00000252244.3	0	1	hg19	c.535C>T	CCDS8836.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.742985	0.96873	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.61	3.7	0.42460	4.61	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.0804	0.64917	0.0:0.4309:0.5691:0.0	.	.	.	.	X	179	.	ENSP00000252244:R179X	R	-	1	2	2	KRT1	51359865	51359865	0.263000	0.24083	0.917000	0.36280	0.919000	0.55068	1.490000	0.35573	1.057000	0.40506	0.448000	0.29417	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	1	0	1		18	2	2	1		1	1	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_006121			107	102		522	504	1		1			1	0	115	0		1	0	0	0	0	0	0	107	522
KRT76	51350	broad.mit.edu	37	12	53165978	53165978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53165978C>T	ENST00000332411.2	-	5	1090	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	346	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTCCAGGCAGCGGTTGTTGTC	0.567																																						ENST00000332411.2	1.000000	0.130000	5.100000e-01	2.100000e-01	0.330000	0.383834	0.330000	0.290000																										0				27						c.(1036-1038)cGc>cAc		keratin 76							85.0	71.0	75.0					12																	53165978		2203	4300	6503	SO:0001583	missense	51350	1	121412	24				g.chr12:53165978C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1037G>A	chr12.hg19:g.53165978C>T	ENSP00000330101:p.Arg346His	0						p.R346H	NM_015848.4	NP_056932.2	1	2	3	2.002308	Q01546	K22O_HUMAN		5	1090	-			B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	0	1	hg19	c.1037G>A	CCDS8838.1	0	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454347	0.84209	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	3.52	0.40303	4.42	3.52	0.40303	Filament (1);	0.000000	0.45126	D	0.000382	D	0.91948	0.7450	M	0.75615	2.305	0.52501	D	0.999955	D	0.76494	0.999	D	0.67103	0.949	D	0.92559	0.6056	10	0.87932	D	0	.	12.8514	0.57860	0.0:0.9184:0.0:0.0816	.	346	Q01546	K22O_HUMAN	H	346	ENSP00000330101:R346H	ENSP00000330101:R346H	R	-	2	0	0	KRT76	51452245	51452245	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.984000	0.63838	1.169000	0.42739	0.462000	0.41574	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-7.202427	1	0.170000	NM_015848			6	7		230	228	0		1			0	0	79	0		9.650822e-01	0	0	0	0	0	0	6	230
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	rs575967584		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2	1.000000	0.120000	2.900000e-01	1.600000e-01	0.210000	0.270354	0.210000	0.210000																										0				27						c.(166-168)cGc>cAc		keratin 76							79.0	101.0	94.0					12																	53170909		2203	4300	6503	SO:0001583	missense	51350	2	121412	38				g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	chr12.hg19:g.53170909C>T	ENSP00000330101:p.Arg56His	0						p.R56H	NM_015848.4	NP_056932.2	1	2	3	2.002308	Q01546	K22O_HUMAN		1	220	-			B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	0	1	hg19	c.167G>A	CCDS8838.1	0	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	0	KRT76	51457176	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-2.273191	0	0.170000	NM_015848			15	15		839	821	0		1			0	0	135	0		9.998471e-01	0	0	0	0	0	0	15	839
KRT3	3850	broad.mit.edu	37	12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A	rs201121196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	297	Coil 1B.|Rod.				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)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443																																						ENST00000417996.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				23						c.(889-891)Cgt>Tgt		keratin 3							118.0	121.0	120.0					12																	53186985		2124	4286	6410	SO:0001583	missense	3850	7	121196	33				g.chr12:53186985G>A		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.889C>T	chr12.hg19:g.53186985G>A	ENSP00000413479:p.Arg297Cys	0					KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	p.R297C	NM_057088.2	NP_476429.2	1	2	3	2.002308	P12035	K2C3_HUMAN		3	963	-			A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	1	1	hg19	c.889C>T	CCDS44895.1	1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854991	0.71719	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90069	-2.61;-2.61	4.59	4.59	0.56863	4.59	4.59	0.56863	Filament (1);	0.142736	0.32769	N	0.005676	D	0.94647	0.8274	M	0.91768	3.24	0.48511	D	0.999661	D	0.67145	0.996	P	0.59115	0.852	D	0.95900	0.8914	10	0.87932	D	0	.	15.9243	0.79603	0.0:0.0:1.0:0.0	.	297	P12035	K2C3_HUMAN	C	297	ENSP00000413479:R297C;ENSP00000312206:R297C	ENSP00000312206:R297C	R	-	1	0	0	KRT3	51473252	51473252	0.848000	0.29623	0.998000	0.56505	0.982000	0.71751	2.361000	0.44160	2.263000	0.75096	0.561000	0.74099	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_057088			18	17		55	54	1		1			0	0	18	0		9.999910e-01	0	0	0	0	0	0	18	55
KRT3	3850	broad.mit.edu	37	12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	95	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)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642																																						ENST00000417996.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.997512	0.990000	1.000000																										0				23						c.(283-285)Ggt>Tgt		keratin 3							120.0	160.0	146.0					12																	53189544		2203	4300	6503	SO:0001583	missense	3850	0	0					g.chr12:53189544C>A		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.283G>T	chr12.hg19:g.53189544C>A	ENSP00000413479:p.Gly95Cys	0					KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	p.G95C	NM_057088.2	NP_476429.2	1	2	3	2.002308	P12035	K2C3_HUMAN		1	357	-			A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	1	1	hg19	c.283G>T	CCDS44895.1	1	.	.	.	.	.	.	.	.	.	.	c	9.383	1.073530	0.20147	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90732	-2.72;-2.72	4.95	0.391	0.16282	4.95	0.391	0.16282	.	.	.	.	.	D	0.93664	0.7976	M	0.90483	3.12	0.32257	N	0.570634	D	0.71674	0.998	P	0.54372	0.75	D	0.92072	0.5665	9	0.48119	T	0.1	.	10.6718	0.45762	0.0:0.8556:0.0:0.1444	.	95	P12035	K2C3_HUMAN	C	95	ENSP00000413479:G95C;ENSP00000312206:G95C	ENSP00000312206:G95C	G	-	1	0	0	KRT3	51475811	51475811	0.001000	0.12720	0.900000	0.35374	0.473000	0.32948	0.351000	0.20096	-0.149000	0.11215	-0.438000	0.05819	GGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_057088			72	69		637	626	0		1			0	0	115	0		1	0	0	0	0	0	0	72	637
KRT4	3851	broad.mit.edu	37	12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000293774.4_Missense_Mutation_p.S138C|KRT4_ENST00000458244.2_Intron			P19013	K2C4_HUMAN	keratin 4	64	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(190-192)Agt>Tgt		keratin 4							114.0	132.0	126.0					12																	53207653		2107	4249	6356	SO:0001583	missense	3851	0	0					g.chr12:53207653T>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.190A>T	chr12.hg19:g.53207653T>A	ENSP00000448220:p.Ser64Cys	0					KRT4_ENST00000293774.4_Missense_Mutation_p.S138C|KRT4_ENST00000458244.2_Intron	p.S64C			1	2	3	2.002308	P19013	K2C4_HUMAN		1	682	-			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	1	1	hg19	c.190A>T	CCDS41787.2	1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670130	0.47677	.	.	ENSG00000170477	ENST00000551956;ENST00000293774	D;T	0.86956	-2.19;2.12	5.0	3.82	0.43975	5.0	3.82	0.43975	.	0.000000	0.56097	D	0.000024	D	0.89455	0.6720	M	0.72894	2.215	0.58432	D	0.999995	.	.	.	.	.	.	D	0.88758	0.3255	8	0.72032	D	0.01	.	8.6374	0.33957	0.0:0.1648:0.0:0.8352	.	.	.	.	C	64;138	ENSP00000448220:S64C;ENSP00000293774:S138C	ENSP00000293774:S138C	S	-	1	0	0	KRT4	51493920	51493920	.	.	0.787000	0.31911	0.595000	0.36748	.	.	0.976000	0.38417	0.477000	0.44152	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	1	0	0		2	2	2	0		0	0	251		251	247	1	2.060000	-20.000000	1	0.170000	NM_002272			214	210		935	909	1		1	0		0	0	251	0		1	0	0	0	0	1	0	214	935
KRT79	338785	broad.mit.edu	37	12	53224076	53224076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	233	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			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						CATCCTCGTACCTGTTACACA	0.572																																						ENST00000330553.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(697-699)aaG>aaA		keratin 79							154.0	119.0	131.0					12																	53224076		2203	4300	6503	SO:0001630	splice_region_variant	338785	0	0					g.chr12:53224076C>T	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.699-1G>A	chr12.hg19:g.53224076C>T		0						p.K233K	NM_175834.2	NP_787028.1	1	2	3	2.002308	Q5XKE5	K2C79_HUMAN		3	733	-			Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	1	0	hg19	c.699G>A	CCDS8839.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_175834	Silent		67	65		384	374	1		1	0		0	0	84	0		1	1.100140e-01	0	0	0	4	0	67	384
KRT79	338785	broad.mit.edu	37	12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	154	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			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						ATGAAGGAGGCGAACTTGTTG	0.612																																						ENST00000330553.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(460-462)Gcc>Acc		keratin 79							127.0	125.0	126.0					12																	53227585		2203	4300	6503	SO:0001583	missense	338785	0	0					g.chr12:53227585C>T	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.460G>A	chr12.hg19:g.53227585C>T	ENSP00000328358:p.Ala154Thr	0						p.A154T	NM_175834.2	NP_787028.1	1	2	3	2.002308	Q5XKE5	K2C79_HUMAN		1	494	-			Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	1	1	hg19	c.460G>A	CCDS8839.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474512	0.84640	.	.	ENSG00000185640	ENST00000330553	D	0.95205	-3.64	4.26	4.26	0.50523	4.26	4.26	0.50523	Filament (1);	0.000000	0.48286	D	0.000188	D	0.98049	0.9357	H	0.95114	3.625	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	D	0.98942	1.0791	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	154	Q5XKE5	K2C79_HUMAN	T	154	ENSP00000328358:A154T	ENSP00000328358:A154T	A	-	1	0	0	KRT79	51513852	51513852	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	7.602000	0.82796	2.643000	0.89663	0.591000	0.81541	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	1	0	1		2	2	2	0		0	0	178		178	175	1	2.060000	-20.000000	1	0.170000	NM_175834			136	133		759	743	1		1	0		0	0	178	0		1	2.341875e-02	0	0	0	2	0	136	759
EIF4B	1975	broad.mit.edu	37	12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000262056.9	+	8	1149	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	275	Arg-rich.|Asp-rich.				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)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCCCGGATAGGCAGTGGCAG	0.473																																						ENST00000262056.9	1.000000	0.340000	6.600000e-01	4.200000e-01	0.520000	0.557560	0.520000	0.510000																										0				22						c.(823-825)Ggc>Tgc		eukaryotic translation initiation factor 4B							89.0	92.0	91.0					12																	53421816		1880	4117	5997	SO:0001583	missense	1975	0	0					g.chr12:53421816G>T	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.823G>T	chr12.hg19:g.53421816G>T	ENSP00000262056:p.Gly275Cys	0					EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C	p.G275C	NM_001417.4	NP_001408.2	1	2	3	2.002308	P23588	IF4B_HUMAN		8	1149	+			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	1	1	hg19	c.823G>T	CCDS41788.1	0	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200477	0.58126	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.57907	0.37;0.43;0.47;0.58	4.48	4.48	0.54585	4.48	4.48	0.54585	.	0.062947	0.64402	D	0.000005	T	0.69735	0.3144	M	0.65498	2.005	0.51012	D	0.999909	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.72462	-0.4286	10	0.59425	D	0.04	.	14.7482	0.69505	0.0:0.0:1.0:0.0	.	236;275;251;275	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	275;275;251;236;230;229	ENSP00000262056:G275C;ENSP00000388806:G275C;ENSP00000449746:G230C;ENSP00000450324:G229C	ENSP00000262056:G275C	G	+	1	0	0	EIF4B	51708083	51708083	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.337000	0.65941	2.409000	0.81822	0.655000	0.94253	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-3.120347	1	0.170000	NM_001417			24	24		531	525	0		1	1		0	0	92	0		9.999996e-01	1	0	44	0	884	0	24	531
EIF4B	1975	broad.mit.edu	37	12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000262056.9	+	8	1183	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				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)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498																																						ENST00000262056.9	1.000000	0.300000	6.400000e-01	3.800000e-01	0.490000	0.530233	0.490000	0.480000																										0				22						c.(856-858)cGc>cAc		eukaryotic translation initiation factor 4B							79.0	84.0	82.0					12																	53421850		1905	4129	6034	SO:0001583	missense	1975	1	120866	36				g.chr12:53421850G>A	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.857G>A	chr12.hg19:g.53421850G>A	ENSP00000262056:p.Arg286His	0					EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H	p.R286H	NM_001417.4	NP_001408.2	1	2	3	2.002308	P23588	IF4B_HUMAN		8	1183	+			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	1	1	hg19	c.857G>A	CCDS41788.1	0	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942603	0.73672	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54675	0.56;0.56;0.61;0.69	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.74647	2.275	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.98;0.98;0.98	T	0.75393	-0.3333	10	0.56958	D	0.05	.	16.088	0.81070	0.0:0.0:1.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	286;286;262;247;241;240	ENSP00000262056:R286H;ENSP00000388806:R286H;ENSP00000449746:R241H;ENSP00000450324:R240H	ENSP00000262056:R286H	R	+	2	0	0	EIF4B	51708117	51708117	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	9.089000	0.94137	2.292000	0.77174	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-3.221215	1	0.170000	NM_001417			19	18		450	439	0		1	1		0	0	81	0		9.999886e-01	1	0	50	0	1324	0	19	450
EIF4B	1975	broad.mit.edu	37	12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000262056.9	+	9	1351	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	342					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)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458																																						ENST00000262056.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1024-1026)cCt>cAt		eukaryotic translation initiation factor 4B							67.0	62.0	64.0					12																	53427635		1807	4076	5883	SO:0001583	missense	1975	0	0					g.chr12:53427635C>A	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.1025C>A	chr12.hg19:g.53427635C>A	ENSP00000262056:p.Pro342His	0					EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H	p.P342H	NM_001417.4	NP_001408.2	1	2	3	2.002308	P23588	IF4B_HUMAN		9	1351	+			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	1	1	hg19	c.1025C>A	CCDS41788.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391431	0.83011	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94184	-3.37;0.58;0.57	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.175924	0.49916	D	0.000137	D	0.96414	0.8830	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.99	D	0.96833	0.9612	10	0.87932	D	0	.	17.2267	0.86972	0.0:1.0:0.0:0.0	.	303;342;318;342	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	342;342;318;303;297	ENSP00000262056:P342H;ENSP00000388806:P342H;ENSP00000449746:P297H	ENSP00000262056:P342H	P	+	2	0	0	EIF4B	51713902	51713902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.950000	0.75977	2.595000	0.87683	0.460000	0.39030	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	1		2	2	2	0		0	0	63		63	65	1	2.060000	-3.361013	1	0.170000	NM_001417			45	43		169	162	1		1	1		0	0	63	0		1	1	0	309	0	863	0	45	169
TENC1	23371	broad.mit.edu	37	12	53454543	53454543	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000314250.6	+	20	3143	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	951	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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687																																						ENST00000314250.6	1.000000	0.790000	1	9.900000e-01	0.990000	0.982975	0.990000	1.000000																										0				34						c.(2851-2853)caG>caA		tensin like C1 domain containing phosphatase (tensin 2)							32.0	34.0	33.0					12																	53454543		2203	4300	6503	SO:0001819	synonymous_variant	23371	0	0					g.chr12:53454543G>A	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.2853G>A	chr12.hg19:g.53454543G>A		0					TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000546602.1_Silent_p.Q854Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000451358.1_Silent_p.Q941Q	p.Q951Q	NM_170754.2	NP_736610.2	1	2	3	2.002308	Q63HR2	TENC1_HUMAN		20	3143	+			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	1	1	hg19	c.2853G>A	CCDS8843.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_170754			20	20		172	172	1		1	1		0	0	34	0		9.999966e-01	9.999499e-01	0	3	0	142	0	20	172
TENC1	23371	broad.mit.edu	37	12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000314250.6	+	26	4201	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1304					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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607																																						ENST00000314250.6	1.000000	0.630000	1	7.700000e-01	0.940000	0.906194	0.940000	1.000000																										0				34						c.(3910-3912)aGc>aAc		tensin like C1 domain containing phosphatase (tensin 2)							45.0	47.0	47.0					12																	53456960		2203	4300	6503	SO:0001583	missense	23371	0	0					g.chr12:53456960G>A	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.3911G>A	chr12.hg19:g.53456960G>A	ENSP00000319684:p.Ser1304Asn	0					TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N	p.S1304N	NM_170754.2	NP_736610.2	1	2	3	2.002308	Q63HR2	TENC1_HUMAN		26	4201	+			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	1	1	hg19	c.3911G>A	CCDS8843.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820665	0.32145	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.91	3.01	0.34805	3.91	3.01	0.34805	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.410378	0.23215	N	0.050621	T	0.22003	0.0530	L	0.37850	1.14	0.32095	N	0.591301	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.003	T	0.13899	-1.0492	10	0.49607	T	0.09	.	7.4795	0.27395	0.1205:0.0:0.8795:0.0	.	1302;1304;1207;1304;1314	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	N	1180;1314;1304;1294;676;1207;1302;1239	ENSP00000369232:S1180N;ENSP00000319756:S1314N;ENSP00000319684:S1304N;ENSP00000393362:S1294N;ENSP00000449363:S1207N;ENSP00000447021:S1302N;ENSP00000449361:S1239N	ENSP00000319684:S1304N	S	+	2	0	0	TENC1	51743227	51743227	0.973000	0.33851	1.000000	0.80357	0.982000	0.71751	1.105000	0.31086	0.997000	0.38969	0.511000	0.50034	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_170754			26	26		305	301	0		1	1		0	0	79	0		9.999999e-01	9.999890e-01	0	9	0	206	0	26	305
SOAT2	8435	broad.mit.edu	37	12	53497948	53497948	+	Silent	SNP	G	G	A	rs377417504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	32					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACACTGAGACGCACAGAGCCC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17017	0.001		0.0	False		,,,				2504	0.0					ENST00000301466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(94-96)acG>acA		sterol O-acyltransferase 2	Hesperetin(DB01094)	G		1,4405	2.1+/-5.4	0,1,2202	106.0	97.0	100.0		96	-7.6	0.0	12		100	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		32/523	53497948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8435	1	121412	37				g.chr12:53497948G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.96G>A	chr12.hg19:g.53497948G>A		0						p.T32T	NM_003578.3	NP_003569.1	1	2	3	2.002308	O75908	SOAT2_HUMAN		2	156	+			F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	1	1	hg19	c.96G>A	CCDS8847.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000				65	60		335	322	1		1	0		0	0	113	0		1	0	0	0	0	1	0	65	335
CSAD	51380	broad.mit.edu	37	12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A	rs544766547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000444623.1	-	8	827	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Missense_Mutation_p.S214L|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000542115.1_3'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					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)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CACCTCCTTCGATGTGAATAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19070	0.0		0.0	False		,,,				2504	0.001				Ovarian(109;252 1546 16882 28524 44645)	ENST00000444623.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(559-561)tCg>tTg		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)						50.0	52.0	51.0					12																	53565117		2203	4300	6503	SO:0001583	missense	51380	3	121412	38				g.chr12:53565117G>A	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.560C>T	chr12.hg19:g.53565117G>A	ENSP00000415485:p.Ser187Leu	0					CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000267085.4_Missense_Mutation_p.S214L|CSAD_ENST00000491654.1_5'Flank	p.S187L	NM_001244705.1	NP_001231634.1	1	2	3	2.002308	Q9Y600	CSAD_HUMAN		8	827	-			A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	1	1	hg19	c.560C>T	CCDS58235.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.281540	0.95489	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442	T;T;T	0.57273	0.41;0.41;0.41	5.36	5.36	0.76844	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199464	0.44902	D	0.000412	T	0.81123	0.4757	H	0.95884	3.735	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65443	0.933;0.935	D	0.87121	0.2191	10	0.87932	D	0	-6.8019	18.2528	0.90009	0.0:0.0:1.0:0.0	.	214;187	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	L	276;214;187;187;187;81	ENSP00000267085:S214L;ENSP00000415485:S187L;ENSP00000410648:S187L	ENSP00000267085:S214L	S	-	2	0	0	CSAD	51851384	51851384	1.000000	0.71417	0.475000	0.27278	0.918000	0.54935	9.131000	0.94446	2.682000	0.91365	0.655000	0.94253	TCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.195679	1	0.170000	NM_015989			60	60		257	252	1		1	0		0	0	60	0		1	6.432028e-01	0	1	0	10	0	60	257
ITGB7	3695	broad.mit.edu	37	12	53590575	53590575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000422257.3_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000550743.2_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	202	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|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)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587																																						ENST00000267082.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				30						c.(604-606)Ctg>Ttg		integrin, beta 7							71.0	65.0	67.0					12																	53590575		2203	4300	6503	SO:0001819	synonymous_variant	3695	0	0					g.chr12:53590575G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.604C>T	chr12.hg19:g.53590575G>A		0					ITGB7_ENST00000422257.3_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000550743.2_Silent_p.L202L	p.L202L	NM_000889.1	NP_000880.1	1	2	3	2.002308	P26010	ITB7_HUMAN		6	835	-			Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	1	1	hg19	c.604C>T	CCDS8849.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				30	29		134	126	1		1	1		0	0	37	0		1	9.993916e-01	0	5	0	50	0	30	134
RARG	5916	broad.mit.edu	37	12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	291	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(871-873)Ggg>Agg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)						104.0	91.0	96.0					12																	53607427		2203	4300	6503	SO:0001583	missense	5916	0	0					g.chr12:53607427C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.871G>A	chr12.hg19:g.53607427C>T	ENSP00000388510:p.Gly291Arg	0		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543762.1_5'UTR	p.G291R	NM_000966.5	NP_000957.1	1	2	3	2.002308	P13631	RARG_HUMAN		8	1358	-			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	1	1	hg19	c.871G>A	CCDS8850.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391539	0.83011	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.96	4.96	0.65561	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.92691	3.335	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;0.992;0.997;0.999	D	0.99744	1.1016	10	0.87932	D	0	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	328;269;291;280	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	R	291;291;53;219;280;269;328	ENSP00000388510:G291R;ENSP00000377947:G291R;ENSP00000332695:G219R;ENSP00000343698:G280R;ENSP00000444335:G269R	ENSP00000332695:G219R	G	-	1	0	0	RARG	51893694	51893694	1.000000	0.71417	0.948000	0.38648	0.683000	0.39861	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	GGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-2.709322	1	0.170000	NM_000966			67	66		304	291	1		1	1		0	0	80	0		1	9.999977e-01	0	5	0	83	0	67	304
RARG	5916	broad.mit.edu	37	12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	221	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567																																						ENST00000425354.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(661-663)Cag>Tag		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)						86.0	74.0	78.0					12																	53607995		2203	4300	6503	SO:0001587	stop_gained	5916	0	0					g.chr12:53607995G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.661C>T	chr12.hg19:g.53607995G>A	ENSP00000388510:p.Gln221*	0					RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543762.1_5'UTR	p.Q221*	NM_000966.5	NP_000957.1	1	2	3	2.002308	P13631	RARG_HUMAN		7	1148	-			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	ENST00000425354.2	0	1	hg19	c.661C>T	CCDS8850.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.151613	0.98678	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	5.37	4.48	0.54585	5.37	4.48	0.54585	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.074	0.59077	0.0793:0.0:0.9207:0.0	.	.	.	.	X	221;221;149;210;199;258	.	ENSP00000332695:Q149X	Q	-	1	0	0	RARG	51894262	51894262	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.104000	0.57790	1.403000	0.46800	0.563000	0.77884	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_000966			92	90		430	419	1		1	1		0	0	106	0		1	9.999999e-01	0	9	0	98	0	92	430
ESPL1	9700	broad.mit.edu	37	12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	847					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGCATCTCGATCAGACTAC	0.478																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2539-2541)Gat>Aat		extra spindle pole bodies homolog 1 (S. cerevisiae)							186.0	155.0	165.0					12																	53675330		2203	4300	6503	SO:0001583	missense	9700	0	0					g.chr12:53675330G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2539G>A	chr12.hg19:g.53675330G>A	ENSP00000257934:p.Asp847Asn	0					ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	p.D847N	NM_012291.4	NP_036423.4	1	2	3	2.002308	Q14674	ESPL1_HUMAN		13	2630	+				Missense_Mutation	SNP	ENST00000257934.4	1	1	hg19	c.2539G>A	CCDS8852.1	1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803375	0.31869	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.1	1.28	0.21552	5.1	1.28	0.21552	.	0.656930	0.16737	N	0.201619	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.983	P;P	0.54431	0.752;0.57	T	0.06267	-1.0836	10	0.54805	T	0.06	.	7.4098	0.27011	0.346:0.0:0.654:0.0	.	58;847	B4DRU1;Q14674	.;ESPL1_HUMAN	N	847;522;847	ENSP00000257934:D847N;ENSP00000449831:D847N	ENSP00000257934:D847N	D	+	1	0	0	ESPL1	51961597	51961597	0.070000	0.21116	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	0.138000	0.18790	-0.224000	0.12420	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-2.942349	1	0.170000	NM_012291			111	107		500	483	1		1	0		0	0	107	0		1	3.351606e-02	0	0	0	2	0	111	500
ESPL1	9700	broad.mit.edu	37	12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1248					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGGTTCTACAGTCAGGGCT	0.557																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3742-3744)Cag>Tag		extra spindle pole bodies homolog 1 (S. cerevisiae)							105.0	113.0	110.0					12																	53680262		2203	4300	6503	SO:0001587	stop_gained	9700	0	0					g.chr12:53680262C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3742C>T	chr12.hg19:g.53680262C>T	ENSP00000257934:p.Gln1248*	0					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	p.Q1248*	NM_012291.4	NP_036423.4	1	2	3	2.002308	Q14674	ESPL1_HUMAN		18	3833	+				Nonsense_Mutation	SNP	ENST00000257934.4	0	1	hg19	c.3742C>T	CCDS8852.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.921299	0.97936	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.06	3.23	0.37069	5.06	3.23	0.37069	.	0.202468	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.1702	0.54155	0.0:0.3313:0.6686:0.0	.	.	.	.	X	1248;923;1248	.	ENSP00000257934:Q1248X	Q	+	1	0	0	ESPL1	51966529	51966529	0.963000	0.33076	0.335000	0.25508	0.198000	0.23893	2.103000	0.41806	0.835000	0.34877	-0.228000	0.12330	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	1	0	0		2	2	2	0		0	0	196		196	193	1	2.060000	-20.000000	1	0.170000	NM_012291			135	134		602	597	0		1	0		0	0	196	0		1	3.407088e-02	0	0	0	2	0	135	602
AAAS	8086	broad.mit.edu	37	12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	223					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)				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						GAGGTAGGGTCCAGGGTCCAG	0.582																																						ENST00000209873.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(667-669)Gac>Aac		achalasia, adrenocortical insufficiency, alacrimia							148.0	139.0	142.0					12																	53708104		2203	4300	6503	SO:0001583	missense	8086	0	0					g.chr12:53708104C>T	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.667G>A	chr12.hg19:g.53708104C>T	ENSP00000209873:p.Asp223Asn	0					AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N	p.D223N	NM_015665.5	NP_056480.1	1	2	3	2.002308	Q9NRG9	AAAS_HUMAN		7	832	-			Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	1	1	hg19	c.667G>A	CCDS8856.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.267049	0.95399	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96073	-3.9;-3.89;-3.9;-0.01	5.16	5.16	0.70880	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96428	0.9317	10	0.44086	T	0.13	-24.581	16.5538	0.84479	0.0:1.0:0.0:0.0	.	190;223	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	223;190;99;190	ENSP00000209873:D223N;ENSP00000377908:D190N;ENSP00000446885:D99N;ENSP00000448020:D190N	ENSP00000209873:D223N	D	-	1	0	0	AAAS	51994371	51994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.859000	0.98148	0.591000	0.81541	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1	1	0	1		2	2	2	0		0	0	206		206	205	1	2.060000	-20.000000	1	0.170000				108	107		634	623	1		1	1		0	0	206	0		1	9.999998e-01	0	36	0	89	0	108	634
SP7	121340	broad.mit.edu	37	12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000536324.2	-	3	651	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_ENST00000537210.2_Missense_Mutation_p.P105H|SP7_ENST00000303846.3_Missense_Mutation_p.P123H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	123					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)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577																																						ENST00000536324.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(367-369)cCc>cAc		Sp7 transcription factor							74.0	77.0	76.0					12																	53722858		1985	4172	6157	SO:0001583	missense	121340	0	0					g.chr12:53722858G>T	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.368C>A	chr12.hg19:g.53722858G>T	ENSP00000443827:p.Pro123His	0					SP7_ENST00000303846.3_Missense_Mutation_p.P123H|SP7_ENST00000537210.2_Missense_Mutation_p.P105H	p.P123H	NM_001173467.1	NP_001166938.1	1	2	3	2.002308	Q8TDD2	SP7_HUMAN		3	651	-			B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	1	1	hg19	c.368C>A	CCDS44897.1	1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030371	0.35797	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.33;3.33;3.33;0.96	3.79	2.85	0.33270	3.79	2.85	0.33270	.	0.209202	0.39834	N	0.001260	T	0.42404	0.1201	N	0.24115	0.695	0.43540	D	0.995831	D	0.64830	0.994	P	0.59221	0.854	T	0.24333	-1.0163	10	0.37606	T	0.19	.	11.9609	0.53007	0.0:0.0:0.8241:0.1759	.	123	Q8TDD2	SP7_HUMAN	H	123;123;105;105	ENSP00000443827:P123H;ENSP00000302812:P123H;ENSP00000441367:P105H;ENSP00000449355:P105H	ENSP00000302812:P123H	P	-	2	0	0	SP7	52009125	52009125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.761000	0.55242	1.108000	0.41662	0.313000	0.20887	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				57	57		256	251	0		1			0	0	58	0		1	0	0	0	0	0	0	57	256
SP1	6667	broad.mit.edu	37	12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000327443.4	+	3	778	c.680C>A	c.(679-681)gCt>gAt	p.A227D	SP1_ENST00000426431.2_Missense_Mutation_p.A220D	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	227	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|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)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502																																						ENST00000327443.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(679-681)gCt>gAt		Sp1 transcription factor							118.0	104.0	109.0					12																	53776411		2203	4300	6503	SO:0001583	missense	6667	0	0					g.chr12:53776411C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.680C>A	chr12.hg19:g.53776411C>A	ENSP00000329357:p.Ala227Asp	0					SP1_ENST00000426431.2_Missense_Mutation_p.A220D	p.A227D	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	1	2	3	2.002308	P08047	SP1_HUMAN		3	778	+			E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	1	1	hg19	c.680C>A	CCDS8857.1	1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313154	0.60414	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08193	3.15;3.12	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000027	T	0.11452	0.0279	L	0.29908	0.895	0.58432	D	0.999999	P	0.52842	0.956	P	0.50270	0.636	T	0.18335	-1.0340	10	0.29301	T	0.29	.	16.2766	0.82646	0.0:1.0:0.0:0.0	.	227	P08047	SP1_HUMAN	D	227;220	ENSP00000329357:A227D;ENSP00000404263:A220D	ENSP00000329357:A227D	A	+	2	0	0	SP1	52062678	52062678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.211000	0.42825	2.456000	0.83038	0.467000	0.42956	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				68	65		372	362	1		1	1		0	0	93	0		1	1	0	45	0	95	0	68	372
AMHR2	269	broad.mit.edu	37	12	53818959	53818959	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000257863.4	+	4	515	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_Silent_p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	145					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587																																						ENST00000257863.4	1.000000	0.190000	4.900000e-01	2.600000e-01	0.350000	0.402551	0.350000	0.330000																										0				34						c.(433-435)atC>atA		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						171.0	127.0	142.0					12																	53818959		2203	4300	6503	SO:0001819	synonymous_variant	269	0	0					g.chr12:53818959C>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.435C>A	chr12.hg19:g.53818959C>A		0					AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_Silent_p.I145I	p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	1	2	3	2.002308	Q16671	AMHR2_HUMAN		4	515	+			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	1	1	hg19	c.435C>A	CCDS8858.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	0	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.182268	1	0.170000	NM_020547			13	13		439	429	0		1			0	0	71	0		9.994746e-01	0	0	0	0	0	0	13	439
AMHR2	269	broad.mit.edu	37	12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000257863.4	+	9	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587																																						ENST00000257863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1282-1284)aGg>aAg		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						82.0	83.0	82.0					12																	53823757		2203	4300	6503	SO:0001583	missense	269	0	0					g.chr12:53823757G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1283G>A	chr12.hg19:g.53823757G>A	ENSP00000257863:p.Arg428Lys	0					AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	p.R428K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	1	2	3	2.002308	Q16671	AMHR2_HUMAN		9	1363	+			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	1	1	hg19	c.1283G>A	CCDS8858.1	1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224872	0.39300	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	T;T	0.64085	-0.08;-0.08	4.86	3.61	0.41365	4.86	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.173220	0.06544	N	0.743676	T	0.49712	0.1573	L	0.31664	0.95	0.39683	D	0.970929	B;B	0.20164	0.034;0.042	B;B	0.26202	0.025;0.067	T	0.47446	-0.9117	10	0.29301	T	0.29	.	4.7159	0.12894	0.1342:0.0:0.6618:0.204	.	428;428	F8W1D2;Q16671	.;AMHR2_HUMAN	K	428	ENSP00000257863:R428K;ENSP00000446661:R428K	ENSP00000257863:R428K	R	+	2	0	0	AMHR2	52110024	52110024	0.038000	0.19896	0.844000	0.33320	0.981000	0.71138	0.976000	0.29462	1.282000	0.44496	0.557000	0.71058	AGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_020547			134	130		537	523	1		1			0	0	119	0		1	0	0	0	0	0	0	134	537
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in PMDS2). {ECO:0000269|PubMed:8872466}.		Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587																																						ENST00000257863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1342-1344)cCt>cTt		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						251.0	214.0	226.0					12																	53823984		2203	4300	6503	SO:0001583	missense	269	0	0					g.chr12:53823984C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1343C>T	chr12.hg19:g.53823984C>T	ENSP00000257863:p.Pro448Leu	0					AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	p.P448L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	1	2	3	2.002308	Q16671	AMHR2_HUMAN		10	1423	+			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	1	1	hg19	c.1343C>T	CCDS8858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034635	0.75617	.	.	ENSG00000135409	ENST00000257863	T	0.65178	-0.14	5.09	5.09	0.68999	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	T	0.79423	0.4443	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81415	-0.0943	9	0.87932	D	0	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	448	Q16671	AMHR2_HUMAN	L	448	ENSP00000257863:P448L	ENSP00000257863:P448L	P	+	2	0	0	AMHR2	52110251	52110251	0.997000	0.39634	0.542000	0.28115	0.552000	0.35366	5.059000	0.64306	2.822000	0.97130	0.557000	0.71058	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1		2	2	2	0		0	0	288		288	283	1	2.060000	-2.935703	1	0.170000	NM_020547			287	281		1060	1035	1		1	0		0	0	288	0		1	4.570299e-02	0	0	0	2	0	287	1060
AMHR2	269	broad.mit.edu	37	12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000257863.4	+	11	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	542					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577																																						ENST00000257863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1624-1626)cTc>cAc		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						121.0	103.0	109.0					12																	53825160		2203	4300	6503	SO:0001583	missense	269	0	0					g.chr12:53825160T>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1625T>A	chr12.hg19:g.53825160T>A	ENSP00000257863:p.Leu542His	0					AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	p.L542H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	1	2	3	2.002308	Q16671	AMHR2_HUMAN		11	1705	+			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	1	1	hg19	c.1625T>A	CCDS8858.1	1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771421	0.31320	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94687	-3.44;-3.49	4.86	2.52	0.30459	4.86	2.52	0.30459	.	0.512495	0.14745	N	0.300902	D	0.89371	0.6696	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.82414	-0.0469	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.2264:0.0:0.7736	.	542	Q16671	AMHR2_HUMAN	H	542;447	ENSP00000257863:L542H;ENSP00000369117:L447H	ENSP00000257863:L542H	L	+	2	0	0	AMHR2	52111427	52111427	0.000000	0.05858	0.215000	0.23724	0.606000	0.37113	-0.026000	0.12392	0.973000	0.38340	0.460000	0.39030	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1		2	2	2	0		0	0	96		96	93	1	2.060000	-20.000000	1	0.170000	NM_020547			98	97		387	374	1		1	0		0	0	96	0		1	0	0	0	0	1	0	98	387
PCBP2	5094	broad.mit.edu	37	12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000439930.3	+	10	813	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	264					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463																																						ENST00000439930.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(790-792)gGa>gAa		poly(rC) binding protein 2							163.0	139.0	147.0					12																	53861069		2203	4300	6503	SO:0001583	missense	5094	0	0					g.chr12:53861069G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.791G>A	chr12.hg19:g.53861069G>A	ENSP00000408949:p.Gly264Glu	0					PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|RP11-793H13.8_ENST00000547717.1_RNA	p.G264E			1	2	3	2.002308	Q15366	PCBP2_HUMAN		10	813	+			A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	1	1	hg19	c.791G>A	CCDS44901.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959545	0.74016	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.84;1.41;1.44;1.4;1.41;1.45;1.34;1.34;1.81;1.4;1.4;1.44	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.56187	0.1968	M	0.64404	1.975	0.80722	D	1	P;P;B;B;D;B;B;B;B;B;B	0.63880	0.639;0.73;0.039;0.076;0.993;0.047;0.004;0.039;0.076;0.149;0.023	B;B;B;B;D;B;B;B;B;B;B	0.64595	0.305;0.382;0.067;0.236;0.927;0.082;0.037;0.067;0.104;0.236;0.03	T	0.44559	-0.9320	10	0.26408	T	0.33	.	18.6361	0.91379	0.0:0.0:1.0:0.0	.	233;260;221;264;206;233;229;260;229;264;260	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	E	260;229;233;229;264;219;264;206;260;260;221;233;229;233;181;93	ENSP00000446130:G260E;ENSP00000352228:G229E;ENSP00000394116:G233E;ENSP00000390304:G229E;ENSP00000408949:G264E;ENSP00000447670:G219E;ENSP00000352438:G264E;ENSP00000448762:G260E;ENSP00000448927:G260E;ENSP00000449070:G233E;ENSP00000388008:G229E;ENSP00000449062:G233E	ENSP00000352228:G229E	G	+	2	0	0	PCBP2	52147336	52147336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.702000	0.92279	0.655000	0.94253	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_005016			78	77		333	323	1		1	1		0	0	106	0		1	1	0	387	0	1798	0	78	333
PCBP2	5094	broad.mit.edu	37	12	53873226	53873226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000439930.3	+	14	1120	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_ENST00000552296.2_Silent_p.*362*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000546463.1_Silent_p.*363*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478																																						ENST00000439930.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1096-1098)taG>taA		poly(rC) binding protein 2							151.0	127.0	135.0					12																	53873226		2203	4300	6503	SO:0001819	synonymous_variant	5094	0	0					g.chr12:53873226G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.1098G>A	chr12.hg19:g.53873226G>A		0					PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000552296.2_Silent_p.*362*	p.*366*			1	2	3	2.002308	Q15366	PCBP2_HUMAN		14	1120	+			A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	0	1	hg19	c.1098G>A	CCDS44901.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	1	0	0		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_005016			40	40		137	130	0		1	1		0	0	27	0		1	1	0	455	0	1700	0	40	137
MAP3K12	7786	broad.mit.edu	37	12	53879181	53879181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53879181C>A	ENST00000267079.2	-	6	1026	c.801G>T	c.(799-801)aaG>aaT	p.K267N	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	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)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAAAGGACATCTTGGTGCTCT	0.502																																						ENST00000267079.2	1.000000	0.260000	4.600000e-01	3.100000e-01	0.370000	0.420159	0.370000	0.370000																										0				37						c.(799-801)aaG>aaT		mitogen-activated protein kinase kinase kinase 12							217.0	207.0	211.0					12																	53879181		2203	4300	6503	SO:0001583	missense	7786	0	0					g.chr12:53879181C>A	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.801G>T	chr12.hg19:g.53879181C>A	ENSP00000267079:p.Lys267Asn	0					MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N	p.K267N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	1	2	3	2.002308	Q12852	M3K12_HUMAN		6	1026	-			B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	1	1	hg19	c.801G>T	CCDS8860.1	0	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595786	0.66332	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.83673	-1.75;-1.75;-1.75	4.84	4.84	0.62591	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000284	T	0.81777	0.4894	L	0.28458	0.855	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.44224	0.316;0.444	T	0.82422	-0.0465	10	0.59425	D	0.04	.	17.24	0.87010	0.0:1.0:0.0:0.0	.	300;267	G3V1Y2;Q12852	.;M3K12_HUMAN	N	267;300;300	ENSP00000267079:K267N;ENSP00000449038:K300N;ENSP00000448689:K300N	ENSP00000267079:K267N	K	-	3	2	2	MAP3K12	52165448	52165448	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.669000	0.25142	2.688000	0.91661	0.561000	0.74099	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	0	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-3.236759	1	0.170000	NM_006301			38	37		1170	1139	0		1	0		0	0	208	0		1	2.402196e-01	0	0	0	29	0	38	1170
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					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)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602																																						ENST00000267079.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(286-288)Cgc>Tgc		mitogen-activated protein kinase kinase kinase 12							82.0	67.0	72.0					12																	53880791		2203	4300	6503	SO:0001583	missense	7786	0	0					g.chr12:53880791G>A	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.286C>T	chr12.hg19:g.53880791G>A	ENSP00000267079:p.Arg96Cys	0					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C	p.R96C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	1	2	3	2.002308	Q12852	M3K12_HUMAN		3	511	-			B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	1	1	hg19	c.286C>T	CCDS8860.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	0	MAP3K12	52167058	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.376867	1	0.170000	NM_006301			76	73		353	345	1		1	1		0	0	74	0		1	9.797934e-01	0	4	0	27	0	76	353
NPFF	8620	broad.mit.edu	37	12	53901208	53901208	+	Silent	SNP	G	G	A	rs369347574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame|RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	17					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18294	0.0		0.0	False		,,,				2504	0.0					ENST00000267017.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(49-51)gaC>gaT		neuropeptide FF-amide peptide precursor		G		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	97.0		51	1.7	0.0	12		97	0,8600		0,0,4300	no	coding-synonymous	NPFF	NM_003717.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		17/114	53901208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8620	6	121412	41				g.chr12:53901208G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.51C>T	chr12.hg19:g.53901208G>A		0					NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame|RP11-793H13.10_ENST00000591834.1_Intron	p.D17D	NM_003717.2	NP_003708.1	1	2	3	2.002308	O15130	NPFF_HUMAN		1	214	-			Q3SXL4	Silent	SNP	ENST00000267017.3	1	0	hg19	c.51C>T	CCDS8862.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	0	0	1		17	2	2	1		1	1	74		74	73	1	2.060000	-3.119079	1	0.170000	NM_003717			70	70		295	287	1		1	0		1	0	74	0		1	9.857663e-02	0	0	0	3	0	70	295
HOXC13	3229	broad.mit.edu	37	12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	161					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)			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657			T	NUP98	AML																																	ENST00000243056.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000				Dom	yes			Dom	yes		12	12q13.3	12q13.3	3229	T	homeo box C13				L	L	NUP98		AML		0				3						c.(481-483)Ccc>Tcc		homeobox C13							17.0	18.0	18.0					12																	54333171		2200	4293	6493	SO:0001583	missense	3229	0	0					g.chr12:54333171C>T		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.481C>T	chr12.hg19:g.54333171C>T	ENSP00000243056:p.Pro161Ser	0					HOXC-AS5_ENST00000512916.2_RNA	p.P161S	NM_017410.2	NP_059106.2	1	2	3	2.002308	P31276	HXC13_HUMAN		1	637	+			Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	1	1	hg19	c.481C>T	CCDS8865.1	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524974	0.27299	.	.	ENSG00000123364	ENST00000243056	T	0.35605	1.3	2.69	2.69	0.31865	2.69	2.69	0.31865	.	0.068700	0.64402	D	0.000013	T	0.23410	0.0566	N	0.20610	0.595	0.51012	D	0.999909	B	0.17465	0.022	B	0.20184	0.028	T	0.07028	-1.0794	10	0.27785	T	0.31	.	13.2295	0.59933	0.0:1.0:0.0:0.0	.	161	P31276	HXC13_HUMAN	S	161	ENSP00000243056:P161S	ENSP00000243056:P161S	P	+	1	0	0	HOXC13	52619438	52619438	0.979000	0.34478	0.998000	0.56505	0.857000	0.48899	2.205000	0.42770	1.849000	0.53698	0.313000	0.20887	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				23	23		91	90	0		1			0	0	15	0		9.999997e-01	0	0	0	0	0	0	23	91
HOXC11	3227	broad.mit.edu	37	12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000546378.1	+	1	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	135					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657			T	NUP98	AML																																	ENST00000546378.1	1.000000	0.300000	4.900000e-01	3.500000e-01	0.410000	0.456722	0.410000	0.410000				Dom	yes			Dom	yes		12	12q13.3	12q13.3	3227	T	homeo box C11				L	L	NUP98		AML		0				2						c.(403-405)Gcc>Acc		homeobox C11							72.0	93.0	86.0					12																	54367428		2203	4300	6503	SO:0001583	missense	3227	0	0					g.chr12:54367428G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.403G>A	chr12.hg19:g.54367428G>A	ENSP00000446680:p.Ala135Thr	0					HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000424518.1_RNA	p.A135T			1	2	3	2.002308	O43248	HXC11_HUMAN		1	519	+			A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	1	1	hg19	c.403G>A	CCDS8867.1	0	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093691	0.20471	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42900	0.96;0.96	3.78	3.78	0.43462	3.78	3.78	0.43462	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.166295	0.56097	D	0.000031	T	0.14527	0.0351	N	0.01464	-0.85	0.34893	D	0.745777	B	0.14012	0.009	B	0.12156	0.007	T	0.11792	-1.0573	10	0.30078	T	0.28	.	5.8294	0.18572	0.2113:0.0:0.7887:0.0	.	135	O43248	HXC11_HUMAN	T	135	ENSP00000446680:A135T;ENSP00000243082:A135T	ENSP00000243082:A135T	A	+	1	0	0	HOXC11	52653695	52653695	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.386000	0.81285	0.555000	0.69702	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2	0	0	1		2	2	2	0		0	0	166		166	160	1	2.060000	-3.131318	1	0.170000				51	51		1411	1378	0		1			0	0	166	0		1	0	0	0	0	0	0	51	1411
HOXC9	3225	broad.mit.edu	37	12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC-AS1_ENST00000512427.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	57					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGCTTCGCGCCCAAGCCGGCA	0.687																																						ENST00000303450.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(169-171)cCc>cTc		homeobox C9							39.0	38.0	38.0					12																	54394142		2202	4299	6501	SO:0001583	missense	3225	0	0					g.chr12:54394142C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.170C>T	chr12.hg19:g.54394142C>T	ENSP00000302836:p.Pro57Leu	0					HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_Intron	p.P57L	NM_006897.1	NP_008828.1	1	2	3	2.002308	P31274	HXC9_HUMAN		1	240	+			B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	1	1	hg19	c.170C>T	CCDS8869.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515582	0.85389	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95885	-3.84;-3.84	4.04	4.04	0.47022	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000001	D	0.97949	0.9325	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.98931	1.0787	10	0.87932	D	0	.	15.4974	0.75666	0.0:1.0:0.0:0.0	.	57	P31274	HXC9_HUMAN	L	57	ENSP00000423861:P57L;ENSP00000302836:P57L	ENSP00000302836:P57L	P	+	2	0	0	HOXC9	52680409	52680409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.268000	0.75426	0.561000	0.74099	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000				55	52		274	269	0		1	0		0	0	58	0		1	0	0	1	0	0	0	55	274
HOXC5	3222	broad.mit.edu	37	12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	9					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312492.2	1.000000	0.400000	8.500000e-01	5.100000e-01	0.650000	0.681120	0.650000	0.640000																										0				12						c.(25-27)Ttc>Gtc		homeobox C5							57.0	60.0	59.0					12																	54426931		2203	4300	6503	SO:0001583	missense	3222	0	0					g.chr12:54426931T>G		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.25T>G	chr12.hg19:g.54426931T>G	ENSP00000309336:p.Phe9Val	0		OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|MIR615_ENST00000384839.1_RNA	p.F9V	NM_018953.2	NP_061826.1	1	2	3	2.002308	Q00444	HXC5_HUMAN		1	295	+				Missense_Mutation	SNP	ENST00000312492.2	1	1	hg19	c.25T>G	CCDS8872.1	0	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845311	0.51164	.	.	ENSG00000172789	ENST00000312492	D	0.91068	-2.78	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000094	D	0.88872	0.6555	M	0.76727	2.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	D	0.88733	0.3238	10	0.36615	T	0.2	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	9	Q00444	HXC5_HUMAN	V	9	ENSP00000309336:F9V	ENSP00000309336:F9V	F	+	1	0	0	HOXC5	52713198	52713198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.182000	0.58310	2.209000	0.71365	0.533000	0.62120	TTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-19.973740	1	0.170000				19	19		333	324	0		1	0		0	0	76	0		9.999892e-01	3.342086e-03	0	0	0	2	0	19	333
HOXC4	3221	broad.mit.edu	37	12	54448914	54448914	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000303406.4_Silent_p.P240P|HOXC4_ENST00000609810.1_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	240					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)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617																																						ENST00000430889.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(718-720)ccG>ccA		homeobox C4							18.0	20.0	20.0					12																	54448914		2203	4300	6503	SO:0001819	synonymous_variant	3221	0	0					g.chr12:54448914G>A		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.720G>A	chr12.hg19:g.54448914G>A		0					HOXC4_ENST00000609810.1_Silent_p.P240P|HOXC4_ENST00000303406.4_Silent_p.P240P	p.P240P	NM_153633.2	NP_705897.1	1	2	3	2.002308	P09017	HXC4_HUMAN		2	766	+				Silent	SNP	ENST00000430889.2	1	1	hg19	c.720G>A	CCDS8873.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-3.562221	1	0.170000				27	27		103	99	0		1	0		0	0	19	0		1	5.266498e-01	0	0	0	8	0	27	103
SMUG1	23583	broad.mit.edu	37	12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron	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	243					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)			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(727-729)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							58.0	63.0	62.0					12																	54575966		2203	4300	6503	SO:0001583	missense	23583	3	121400	35				g.chr12:54575966G>A	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.727C>T	chr12.hg19:g.54575966G>A	ENSP00000424191:p.Arg243Cys	0					SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron	p.R243C	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	1	2	3	2.002308	Q53HV7	SMUG1_HUMAN		3	789	-			A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	1	1	hg19	c.727C>T	CCDS8874.1	1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459475	0.43736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.56444	0.46;0.46;0.46	4.73	3.84	0.44239	4.73	3.84	0.44239	Uracil-DNA glycosylase-like (3);	0.048032	0.85682	N	0.000000	T	0.68357	0.2992	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.68868	-0.5295	10	0.49607	T	0.09	.	7.3843	0.26874	0.0874:0.0:0.7468:0.1658	.	243	Q53HV7	SMUG1_HUMAN	C	243	ENSP00000338606:R243C;ENSP00000424191:R243C;ENSP00000384828:R243C	ENSP00000338606:R243C	R	-	1	0	0	SMUG1	52862233	52862233	1.000000	0.71417	0.362000	0.25862	0.853000	0.48598	4.942000	0.63547	1.121000	0.41925	-0.136000	0.14681	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-2.403808	0	0.170000	NM_014311			86	86		470	467	1		1	1		0	0	111	0		1	9.962283e-01	0	17	0	31	0	86	470
NFE2	4778	broad.mit.edu	37	12	54686881	54686881	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_ENST00000312156.4_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	133	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582																																						ENST00000540264.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(397-399)gcA>gcG		nuclear factor, erythroid 2							102.0	107.0	105.0					12																	54686881		2203	4300	6503	SO:0001819	synonymous_variant	4778	0	0					g.chr12:54686881T>C	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.399A>G	chr12.hg19:g.54686881T>C		0					NFE2_ENST00000435572.2_Silent_p.A133A|NFE2_ENST00000553070.1_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Silent_p.A133A	p.A133A			1	2	3	2.002308	Q16621	NFE2_HUMAN		2	908	-			Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	1	1	hg19	c.399A>G	CCDS8876.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_006163			126	123		611	598	1		1	0		0	0	140	0		1	0	0	0	0	1	0	126	611
ITGA5	3678	broad.mit.edu	37	12	54795226	54795226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	808					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)			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						GATGCCAGTCGCTTACTGGGA	0.572																																						ENST00000293379.4	1.000000	0.870000	1	9.700000e-01	0.990000	0.986881	0.990000	1.000000																										0				34						c.(2422-2424)agC>agT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							129.0	129.0	129.0					12																	54795226		2203	4300	6503	SO:0001819	synonymous_variant	3678	0	0					g.chr12:54795226G>A		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.2424C>T	chr12.hg19:g.54795226G>A		0					RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.S808S	NM_002205.2	NP_002196.2	1	2	3	2.002308	P08648	ITA5_HUMAN		24	2685	-			Q96HA5	Silent	SNP	ENST00000293379.4	1	1	hg19	c.2424C>T	CCDS8880.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	1	0	1		2	2	2	0		0	0	210		210	210	1	2.060000	-19.924120	1	0.170000				82	77		817	809	0		1	1		0	0	210	0		1	1	0	5	0	410	0	82	817
ITGA5	3678	broad.mit.edu	37	12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	607					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)			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						GAAGTTGAGAGCGATGTGAAT	0.572																																						ENST00000293379.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1819-1821)gCt>gAt		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							164.0	181.0	175.0					12																	54797065		2203	4300	6503	SO:0001583	missense	3678	0	0					g.chr12:54797065G>T		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.1820C>A	chr12.hg19:g.54797065G>T	ENSP00000293379:p.Ala607Asp	0					RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.A607D	NM_002205.2	NP_002196.2	1	2	3	2.002308	P08648	ITA5_HUMAN		18	2081	-			Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	1	1	hg19	c.1820C>A	CCDS8880.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047893	0.55110	.	.	ENSG00000161638	ENST00000293379	T	0.44482	0.92	5.17	4.25	0.50352	5.17	4.25	0.50352	Integrin alpha-2 (1);	0.221093	0.44483	N	0.000444	T	0.44095	0.1277	L	0.58101	1.795	0.49915	D	0.999838	P	0.48350	0.909	P	0.48141	0.568	T	0.33369	-0.9871	10	0.40728	T	0.16	.	8.805	0.34932	0.0:0.1646:0.6651:0.1703	.	607	P08648	ITA5_HUMAN	D	607	ENSP00000293379:A607D	ENSP00000293379:A607D	A	-	2	0	0	ITGA5	53083332	53083332	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.325000	0.43840	1.247000	0.43917	0.561000	0.74099	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	0	0	1		17	8	2	1		1	1	197		197	196	1	2.060000	-20.000000	1	0.170000				167	164		784	763	1		1	0		1	0	197	0		1	1	0	2	0	353	0	167	784
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					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)			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						TGGTGAACTCGGCACTGAAGC	0.577																																						ENST00000293379.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(631-633)gcC>gcT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)		A		1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		633	-9.3	0.1	12	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	ITGA5	NM_002205.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		211/1050	54802689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3678	2	121412	35				g.chr12:54802689G>A		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.633C>T	chr12.hg19:g.54802689G>A		0					RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.A211A	NM_002205.2	NP_002196.2	1	2	3	2.002308	P08648	ITA5_HUMAN		5	894	-			Q96HA5	Silent	SNP	ENST00000293379.4	1	1	hg19	c.633C>T	CCDS8880.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.333163	1	0.170000				62	63		223	214	1		1	1		0	0	65	0		1	1	0	2	0	242	0	62	223
NCKAP1L	3071	broad.mit.edu	37	12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	272					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)			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						TGGGTGCCTCAACTCCAATAG	0.483																																						ENST00000293373.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(814-816)Aac>Gac		NCK-associated protein 1-like							152.0	136.0	142.0					12																	54905762		2203	4300	6503	SO:0001583	missense	3071	0	0					g.chr12:54905762A>G	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.814A>G	chr12.hg19:g.54905762A>G	ENSP00000293373:p.Asn272Asp	0					NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	p.N272D	NM_005337.4	NP_005328.2	1	2	3	2.002308	P55160	NCKPL_HUMAN		9	893	+			B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	1	1	hg19	c.814A>G	CCDS31813.1	1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149071	0.57151	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.048494	0.85682	N	0.000000	T	0.44850	0.1313	L	0.45581	1.43	0.42139	D	0.991505	D	0.69078	0.997	D	0.80764	0.994	T	0.26052	-1.0114	10	0.12103	T	0.63	-15.1548	13.8042	0.63220	1.0:0.0:0.0:0.0	.	272	P55160	NCKPL_HUMAN	D	272;222	ENSP00000293373:N272D;ENSP00000445596:N222D	ENSP00000293373:N272D	N	+	1	0	0	NCKAP1L	53192029	53192029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	2.153000	0.67306	0.456000	0.33151	AAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_005337			83	82		359	350	1		1	0		0	0	96	0		1	1	0	0	0	120	0	83	359
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					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.R767H(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						AGAGTCATCCGCAACGCCCTC	0.512																																						ENST00000293373.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										1	Substitution - Missense(1)	p.R767H(1)	large_intestine(1)	80						c.(2299-2301)cGc>cAc		NCK-associated protein 1-like							123.0	102.0	109.0					12																	54920455		2203	4300	6503	SO:0001583	missense	3071	0	0					g.chr12:54920455G>A	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.2300G>A	chr12.hg19:g.54920455G>A	ENSP00000293373:p.Arg767His	0					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	p.R767H	NM_005337.4	NP_005328.2	1	2	3	2.002308	P55160	NCKPL_HUMAN		21	2379	+			B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	1	1	hg19	c.2300G>A	CCDS31813.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	0	NCKAP1L	53206722	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.321138	1	0.170000	NM_005337			37	37		230	228	1		1	0		0	0	54	0		1	9.999975e-01	0	0	0	125	0	37	230
PDE1B	5153	broad.mit.edu	37	12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000243052.3	+	12	1671	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	412	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)			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)	CTCTGTGACCGCACTTCCACT	0.572																																						ENST00000243052.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1234-1236)cGc>cAc		phosphodiesterase 1B, calmodulin-dependent	Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)						127.0	116.0	120.0					12																	54969384		2203	4300	6503	SO:0001583	missense	5153	0	0					g.chr12:54969384G>A	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.1235G>A	chr12.hg19:g.54969384G>A	ENSP00000243052:p.Arg412His	0					PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H	p.R412H	NM_000924.3	NP_000915.1	1	2	3	2.002308	Q01064	PDE1B_HUMAN		12	1671	+			Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	1	1	hg19	c.1235G>A	CCDS8882.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022590	0.93462	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.84873	-1.91;-1.91;-1.91	4.85	4.85	0.62838	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94791	0.8318	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96332	0.9244	10	0.87932	D	0	.	15.8505	0.78927	0.0:0.0:1.0:0.0	.	392;412	Q01064-2;Q01064	.;PDE1B_HUMAN	H	412;371;392	ENSP00000243052:R412H;ENSP00000442559:R371H;ENSP00000448519:R392H	ENSP00000243052:R412H	R	+	2	0	0	PDE1B	53255651	53255651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.699000	0.98703	2.402000	0.81655	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-3.148130	1	0.170000				84	84		438	431	1		1	0		0	0	120	0		1	8.520230e-01	0	0	0	20	0	84	438
LACRT	90070	broad.mit.edu	37	12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	11					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527																																						ENST00000257867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(31-33)gCt>gAt		lacritin							121.0	115.0	117.0					12																	55028594		2203	4300	6503	SO:0001583	missense	90070	0	0					g.chr12:55028594G>T	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.32C>A	chr12.hg19:g.55028594G>T	ENSP00000257867:p.Ala11Asp	0					LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	p.A11D	NM_033277.1	NP_150593.1	1	2	3	2.002308	Q9GZZ8	LACRT_HUMAN		1	85	-				Missense_Mutation	SNP	ENST00000257867.4	1	1	hg19	c.32C>A	CCDS8883.1	1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970247	0.18659	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	2.95	0.34219	3.84	2.95	0.34219	.	0.000000	0.32488	N	0.006040	T	0.39253	0.1071	N	0.19112	0.55	0.19945	N	0.999946	D	0.89917	1.0	D	0.79108	0.992	T	0.06844	-1.0804	9	0.87932	D	0	.	7.4512	0.27240	0.118:0.0:0.882:0.0	.	11	Q9GZZ8	LACRT_HUMAN	D	11	.	ENSP00000257867:A11D	A	-	2	0	0	LACRT	53314861	53314861	0.078000	0.21339	0.548000	0.28192	0.021000	0.10359	0.255000	0.18333	1.219000	0.43474	0.563000	0.77884	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_033277			63	59		322	315	1		1			0	0	73	0		1	0	0	0	0	0	0	63	322
OR9K2	441639	broad.mit.edu	37	12	55524378	55524378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438																																						ENST00000305377.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(826-828)Ctg>Ttg		olfactory receptor, family 9, subfamily K, member 2							197.0	175.0	183.0					12																	55524378		2203	4300	6503	SO:0001819	synonymous_variant	441639	0	0					g.chr12:55524378C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.826C>T	chr12.hg19:g.55524378C>T		0						p.L276L	NM_001005243.1	NP_001005243.1	1	2	3	2.002308	Q8NGE7	OR9K2_HUMAN		1	914	+			B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	1	1	hg19	c.826C>T	CCDS31814.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1	0	0	1		16	2	2	1		1	1	143		143	143	1	2.060000	-20.000000	1	0.170000				134	131		523	515	0		1			1	0	143	0		1	0	0	0	0	0	0	134	523
OR6C74	254783	broad.mit.edu	37	12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368																																						ENST00000343870.4	1.000000	0.480000	9.100000e-01	5.900000e-01	0.720000	0.745341	0.720000	1.000000																										0				12						c.(613-615)cTc>cGc		olfactory receptor, family 6, subfamily C, member 74							94.0	86.0	89.0					12																	55641685		2203	4300	6503	SO:0001583	missense	254783	0	0					g.chr12:55641685T>G		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.614T>G	chr12.hg19:g.55641685T>G	ENSP00000342836:p.Leu205Arg	0						p.L205R	NM_001005490.1	NP_001005490.1	1	2	3	2.002308	A6NCV1	O6C74_HUMAN		1	704	+				Missense_Mutation	SNP	ENST00000343870.4	1	1	hg19	c.614T>G	CCDS31816.1	0	.	.	.	.	.	.	.	.	.	.	t	11.76	1.734754	0.30774	.	.	ENSG00000197706	ENST00000343870	T	0.39056	1.1	5.45	5.45	0.79879	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.69860	0.3158	H	0.94385	3.53	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.69015	-0.5257	10	0.87932	D	0	.	7.3485	0.26676	0.0:0.0766:0.1464:0.777	.	205	A6NCV1	O6C74_HUMAN	R	205	ENSP00000342836:L205R	ENSP00000342836:L205R	L	+	2	0	0	OR6C74	53927952	53927952	0.003000	0.15002	0.094000	0.20943	0.230000	0.25150	1.468000	0.35332	2.196000	0.70406	0.451000	0.29950	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				25	25		390	375	0		1			0	0	73	0		9.999998e-01	0	0	0	0	0	0	25	390
OR6C1	390321	broad.mit.edu	37	12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348																																						ENST00000379668.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(598-600)tgT>tgG		olfactory receptor, family 6, subfamily C, member 1							94.0	82.0	86.0					12																	55714983		2202	4300	6502	SO:0001583	missense	390321	0	0					g.chr12:55714983T>G	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.600T>G	chr12.hg19:g.55714983T>G	ENSP00000368990:p.Cys200Trp	0						p.C200W	NM_001005182.1	NP_001005182.1	1	2	3	2.002308	Q96RD1	OR6C1_HUMAN		1	638	+			B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	1	1	hg19	c.600T>G	CCDS31818.1	1	.	.	.	.	.	.	.	.	.	.	t	7.293	0.611552	0.14066	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	4.77	-2.56	0.06268	4.77	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.546234	0.18482	N	0.139892	T	0.00144	0.0004	L	0.49778	1.585	0.32672	N	0.516688	B	0.02656	0.0	B	0.12837	0.008	T	0.23797	-1.0178	10	0.54805	T	0.06	.	7.4666	0.27324	0.0:0.1527:0.5104:0.3369	.	200	Q96RD1	OR6C1_HUMAN	W	200	ENSP00000368990:C200W	ENSP00000368990:C200W	C	+	3	2	2	OR6C1	54001250	54001250	0.000000	0.05858	0.233000	0.24025	0.710000	0.40934	-2.652000	0.00856	-0.226000	0.09899	0.460000	0.39030	TGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.999850	1	0.170000	NM_001005182			44	43		214	212	1		1			0	0	56	0		1	0	0	0	0	0	0	44	214
OR6C3	254786	broad.mit.edu	37	12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	103					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418																																						ENST00000379667.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(307-309)tTc>tCc		olfactory receptor, family 6, subfamily C, member 3							99.0	104.0	103.0					12																	55725792		2203	4300	6503	SO:0001583	missense	254786	0	0					g.chr12:55725792T>C	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.308T>C	chr12.hg19:g.55725792T>C	ENSP00000368989:p.Phe103Ser	0						p.F103S	NM_054104.1	NP_473445.1	1	2	3	2.002308	Q9NZP0	OR6C3_HUMAN		1	308	+				Missense_Mutation	SNP	ENST00000379667.1	1	1	hg19	c.308T>C	CCDS31819.1	1	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553566	0.13374	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.18	2.7	0.31948	5.18	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.131035	0.34802	N	0.003677	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40997	-0.9533	10	0.48119	T	0.1	.	3.5933	0.07997	0.2892:0.1431:0.0:0.5677	.	103	Q9NZP0	OR6C3_HUMAN	S	103	ENSP00000368989:F103S	ENSP00000368989:F103S	F	+	2	0	0	OR6C3	54012059	54012059	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	0.456000	0.21859	0.458000	0.26988	0.478000	0.44815	TTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000				141	141		598	585	1		1			0	0	104	0		1	0	0	0	0	0	0	141	598
OR6C70	390327	broad.mit.edu	37	12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353																																						ENST00000327335.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(502-504)gCt>gAt		olfactory receptor, family 6, subfamily C, member 70							84.0	87.0	86.0					12																	55863420		2203	4299	6502	SO:0001583	missense	390327	0	0					g.chr12:55863420G>T		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.503C>A	chr12.hg19:g.55863420G>T	ENSP00000329153:p.Ala168Asp	0					RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.A168D	NM_001005499.1	NP_001005499.1	1	2	3	2.002308	A6NIJ9	O6C70_HUMAN		1	502	-				Missense_Mutation	SNP	ENST00000327335.4	1	1	hg19	c.503C>A	CCDS31825.1	1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967877	0.00457	.	.	ENSG00000184954	ENST00000327335	T	0.37235	1.21	4.06	-0.495	0.12030	4.06	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.603436	0.14712	N	0.302876	T	0.20129	0.0484	N	0.17278	0.47	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.35968	-0.9767	10	0.02654	T	1	.	8.8381	0.35123	0.0:0.2561:0.4479:0.296	.	168	A6NIJ9	O6C70_HUMAN	D	168	ENSP00000329153:A168D	ENSP00000329153:A168D	A	-	2	0	0	OR6C70	54149687	54149687	0.000000	0.05858	0.095000	0.20976	0.265000	0.26407	0.110000	0.15437	-0.200000	0.10300	0.655000	0.94253	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				75	74		370	361	1		1			0	0	89	0		1	0	0	0	0	0	0	75	370
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552																																						ENST00000309675.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(667-669)Ctg>Atg		olfactory receptor, family 10, subfamily P, member 1							123.0	104.0	110.0					12																	56031342		2203	4300	6503	SO:0001583	missense	121130	0	0					g.chr12:56031342C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	chr12.hg19:g.56031342C>A	ENSP00000308082:p.Leu223Met	0					RP11-644F5.16_ENST00000556606.1_RNA	p.L223M	NM_206899.1	NP_996782.1	1	2	3	2.002308	Q8NGE3	O10P1_HUMAN		1	699	+			B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	1	1	hg19	c.667C>A	CCDS31828.1	1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	2	OR10P1	54317609	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-3.450015	1	0.170000				135	132		576	562	1		1			0	0	128	0		1	0	0	0	0	0	0	135	576
METTL7B	196410	broad.mit.edu	37	12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	77							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572																																						ENST00000394252.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(229-231)Ctg>Atg		methyltransferase like 7B							52.0	52.0	52.0					12																	56075767		2203	4300	6503	SO:0001583	missense	196410	0	0					g.chr12:56075767C>A		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.229C>A	chr12.hg19:g.56075767C>A	ENSP00000377796:p.Leu77Met	0						p.L77M	NM_152637.2	NP_689850.2	1	2	3	2.002308	Q6UX53	MET7B_HUMAN		1	438	+			A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	1	1	hg19	c.229C>A	CCDS8887.2	1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000170439	ENST00000394252	T	0.12672	2.66	4.96	2.08	0.27032	4.96	2.08	0.27032	Methyltransferase type 11 (1);	0.300406	0.32328	N	0.006246	T	0.33904	0.0879	M	0.82193	2.58	0.37317	D	0.909383	D	0.57899	0.981	D	0.65573	0.936	T	0.24870	-1.0148	10	0.87932	D	0	-31.231	8.4467	0.32847	0.0:0.6244:0.2933:0.0824	.	77	Q6UX53	MET7B_HUMAN	M	77	ENSP00000377796:L77M	ENSP00000377796:L77M	L	+	1	2	2	METTL7B	54362034	54362034	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.480000	0.35464	0.257000	0.21650	0.655000	0.94253	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_152637			35	35		141	139	1		1	1		0	0	38	0		1	1	0	54	0	70	0	35	141
ITGA7	3679	broad.mit.edu	37	12	56091492	56091492	+	Missense_Mutation	SNP	C	C	T	rs61733964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	ENST00000555728.1	-	10	1556	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	ITGA7_ENST00000257880.7_Missense_Mutation_p.A510T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T			Q13683	ITA7_HUMAN	integrin, alpha 7	510					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)			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						AAGAGCACTGCGGTGTCAGCC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18035	0.0		0.0	False		,,,				2504	0.0					ENST00000555728.1	1.000000	0.220000	5.300000e-01	2.900000e-01	0.390000	0.439802	0.390000	0.380000																										0				50						c.(1528-1530)Gca>Aca		integrin, alpha 7		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	71.0	70.0	70.0		1408,1117,1396	4.3	0.0	12	dbSNP_129	70	0,8600		0,0,4300	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	470/1142,373/1045,466/1138	56091492	2,13004	2203	4300	6503	SO:0001583	missense	3679	3	121412	42				g.chr12:56091492C>T		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.1528G>A	chr12.hg19:g.56091492C>T	ENSP00000452387:p.Ala510Thr	0					ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000257880.7_Missense_Mutation_p.A510T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T	p.A510T			1	2	3	2.002308	Q13683	ITA7_HUMAN		10	1556	-			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	0	1	hg19	c.1528G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016975	0.54576	4.54E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	4.28	4.28	0.50868	.	0.283792	0.28877	N	0.013856	T	0.62732	0.2452	L	0.39566	1.225	0.19300	N	0.999976	P;P;B;B	0.36354	0.464;0.549;0.452;0.359	B;B;B;B	0.35073	0.095;0.195;0.146;0.054	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.6156	0.68547	0.0:1.0:0.0:0.0	.	373;510;470;529	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	470;466;466;373;510;470;466;510;510	ENSP00000452120:A470T;ENSP00000257879:A466T;ENSP00000343009:A466T;ENSP00000393844:A373T;ENSP00000257880:A510T;ENSP00000377777:A470T;ENSP00000377776:A466T;ENSP00000452387:A510T	ENSP00000257879:A466T	A	-	1	0	0	ITGA7	54377759	54377759	0.638000	0.27225	0.014000	0.15608	0.061000	0.15899	3.031000	0.49728	2.130000	0.65690	0.561000	0.74099	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.096763	1	0.170000	NM_002206			14	14		422	411	0		1	0		0	0	71	0		9.997115e-01	2.487722e-01	0	0	0	28	0	14	422
ITGA7	3679	broad.mit.edu	37	12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000555728.1	-	8	1226	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H			Q13683	ITA7_HUMAN	integrin, alpha 7	400					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)			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						AAGTACACATACACAGCACCC	0.607																																						ENST00000555728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1198-1200)Tat>Cat		integrin, alpha 7							68.0	76.0	73.0					12																	56092293		2203	4300	6503	SO:0001583	missense	3679	0	0					g.chr12:56092293A>G		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.1198T>C	chr12.hg19:g.56092293A>G	ENSP00000452387:p.Tyr400His	0					ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H	p.Y400H			1	2	3	2.002308	Q13683	ITA7_HUMAN		8	1226	-			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	1	1	hg19	c.1198T>C		1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171337	0.78452	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	D	0.85111	0.5622	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.87713	0.2568	10	0.87932	D	0	.	12.8385	0.57788	1.0:0.0:0.0:0.0	.	263;400;360;419	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	360;356;356;263;400;360;356;400;400	ENSP00000452120:Y360H;ENSP00000257879:Y356H;ENSP00000343009:Y356H;ENSP00000393844:Y263H;ENSP00000257880:Y400H;ENSP00000377777:Y360H;ENSP00000377776:Y356H;ENSP00000452387:Y400H	ENSP00000257879:Y356H	Y	-	1	0	0	ITGA7	54378560	54378560	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	9.239000	0.95389	1.988000	0.58038	0.459000	0.35465	TAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_002206			83	82		383	375	1		1	0		0	0	106	0		1	9.204680e-01	0	0	0	22	0	83	383
ITGA7	3679	broad.mit.edu	37	12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T	rs200793865	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000555728.1	-	7	1115	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S			Q13683	ITA7_HUMAN	integrin, alpha 7	363					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)			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						TAGCCAAAGCCGGAGGTCAGG	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		16863	0.003		0.0	False		,,,				2504	0.0					ENST00000555728.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				50						c.(1087-1089)Ggc>Agc		integrin, alpha 7							67.0	55.0	59.0					12																	56092537		2203	4299	6502	SO:0001583	missense	3679	17	121410	44				g.chr12:56092537C>T		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.1087G>A	chr12.hg19:g.56092537C>T	ENSP00000452387:p.Gly363Ser	0					ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S	p.G363S			1	2	3	2.002308	Q13683	ITA7_HUMAN		7	1115	-			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	1	1	hg19	c.1087G>A		1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540358	0.13250	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.338675	0.28688	N	0.014478	T	0.31167	0.0788	N	0.01235	-0.94	0.42502	D	0.992937	B;B;B;P	0.36990	0.07;0.019;0.033;0.577	B;B;B;B	0.24006	0.011;0.008;0.011;0.05	T	0.51204	-0.8735	10	0.07030	T	0.85	.	10.1055	0.42530	0.2:0.8:0.0:0.0	.	226;363;323;382	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	323;319;319;226;363;323;319;363;363	ENSP00000452120:G323S;ENSP00000257879:G319S;ENSP00000343009:G319S;ENSP00000393844:G226S;ENSP00000257880:G363S;ENSP00000377777:G323S;ENSP00000377776:G319S;ENSP00000452387:G363S	ENSP00000257879:G319S	G	-	1	0	0	ITGA7	54378804	54378804	0.710000	0.27896	0.995000	0.50966	0.785000	0.44390	1.497000	0.35649	2.489000	0.83994	0.491000	0.48974	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-20.000000	1	0.170000	NM_002206			51	50		282	276	1		1	1		0	0	78	0		1	8.685398e-01	0	4	0	18	0	51	282
ITGA7	3679	broad.mit.edu	37	12	56094883	56094883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56094883C>T	ENST00000555728.1	-	4	498	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	ITGA7_ENST00000257880.7_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q			Q13683	ITA7_HUMAN	integrin, alpha 7	157					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)			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						AATCATATCCCGCGTCTCCAG	0.602																																						ENST00000555728.1	1.000000	0.140000	4.300000e-01	2.000000e-01	0.290000	0.347227	0.290000	0.270000																										0				50						c.(469-471)cGg>cAg		integrin, alpha 7							133.0	115.0	121.0					12																	56094883		2203	4300	6503	SO:0001583	missense	3679	0	0					g.chr12:56094883C>T		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.470G>A	chr12.hg19:g.56094883C>T	ENSP00000452387:p.Arg157Gln	0					ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q	p.R157Q			1	2	3	2.002308	Q13683	ITA7_HUMAN		4	498	-			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	0	1	hg19	c.470G>A		0	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666291	0.47677	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.49720	0.95;0.95;0.95;0.77;0.95;0.95;0.95;0.95	4.47	3.57	0.40892	4.47	3.57	0.40892	.	0.076639	0.49916	D	0.000122	T	0.61776	0.2374	M	0.64080	1.96	0.43885	D	0.996502	P;P;D;D	0.89917	0.758;0.906;0.999;1.0	P;B;D;P	0.71656	0.459;0.372;0.974;0.883	T	0.61013	-0.7148	10	0.39692	T	0.17	.	11.8786	0.52562	0.1759:0.8241:0.0:0.0	.	60;157;157;220	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	157;157;157;60;157;157;157;157;157	ENSP00000452120:R157Q;ENSP00000257879:R157Q;ENSP00000343009:R157Q;ENSP00000393844:R60Q;ENSP00000257880:R157Q;ENSP00000377777:R157Q;ENSP00000377776:R157Q;ENSP00000452387:R157Q	ENSP00000257879:R157Q	R	-	2	0	0	ITGA7	54381150	54381150	1.000000	0.71417	0.628000	0.29241	0.001000	0.01503	7.604000	0.82830	1.235000	0.43724	-0.324000	0.08512	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-2.436771	0	0.170000	NM_002206			9	9		376	370	0		1	0		0	0	86	0		9.939264e-01	1.483012e-01	0	0	0	26	0	9	376
CD63	967	broad.mit.edu	37	12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000549117.1	-	3	596	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.P54S	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	54					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(160-162)Cca>Tca		CD63 molecule							103.0	103.0	103.0					12																	56121030		2203	4300	6503	SO:0001583	missense	967	0	0					g.chr12:56121030G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.160C>T	chr12.hg19:g.56121030G>A	ENSP00000447730:p.Pro54Ser	0					CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552067.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_5'Flank	p.P54S	NM_001257389.1	NP_001244318.1	1	2	3	2.002308	P08962	CD63_HUMAN		3	596	-			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	1	1	hg19	c.160C>T	CCDS8890.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703758	0.88924	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.35	4.46	0.54185	5.35	4.46	0.54185	.	0.054955	0.64402	N	0.000001	D	0.86510	0.5950	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.995	D;P;D	0.97110	1.0;0.893;0.951	D	0.87355	0.2340	10	0.56958	D	0.05	.	12.4812	0.55844	0.0829:0.0:0.9171:0.0	.	31;54;54	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	54;54;54;54;31;54;54;54	ENSP00000393502:P54S;ENSP00000449337:P54S;ENSP00000447730:P54S;ENSP00000257857:P54S;ENSP00000446807:P31S;ENSP00000449281:P54S;ENSP00000446752:P54S;ENSP00000450191:P54S	ENSP00000257857:P54S	P	-	1	0	0	CD63	54407297	54407297	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.977000	0.63792	1.593000	0.50029	0.655000	0.94253	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-20.000000	1	0.170000				150	147		607	593	1		1	1		0	0	158	0		1	1	0	1294	0	5547	0	150	607
DGKA	1606	broad.mit.edu	37	12	56333198	56333198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	ENST00000331886.5	+	9	1048		c.e9-1		DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						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)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542																																						ENST00000331886.5	1.000000	0.290000	5.500000e-01	3.600000e-01	0.440000	0.480262	0.440000	0.440000																										0				25						c.e9-1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						163.0	159.0	160.0					12																	56333198		2203	4300	6503	SO:0001630	splice_region_variant	1606	0	0					g.chr12:56333198G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.595-1G>T	chr12.hg19:g.56333198G>T		0					DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000394147.1_Splice_Site		NM_001345.4	NP_001336.2	1	2	3	2.002308	P23743	DGKA_HUMAN		9	1048	+			O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	1	1	hg19		CCDS8896.1	0	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795930	0.31777	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8868	0.88858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DGKA	54619465	54619465	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.343000	0.79319	2.838000	0.97847	0.591000	0.81541	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1	0	0	1		2	2	2	0		0	0	178		178	178	1	2.060000	-3.621910	1	0.170000		Intron		28	28		738	724	0		1	0		0	0	178	0		1	0	0	0	0	1	0	28	738
SUOX	6821	broad.mit.edu	37	12	56398461	56398461	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56398461A>G	ENST00000394109.3	+	3	2012	c.1288A>G	c.(1288-1290)Aca>Gca	p.T430A	IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A			P51687	SUOX_HUMAN	sulfite oxidase	430	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCGGCCATCACAGAGCCCCG	0.557																																						ENST00000394109.3	1.000000	0.300000	7.100000e-01	4.000000e-01	0.530000	0.566792	0.530000	0.510000																										0				15						c.(1288-1290)Aca>Gca		sulfite oxidase							106.0	106.0	106.0					12																	56398461		2203	4300	6503	SO:0001583	missense	6821	0	0					g.chr12:56398461A>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1288A>G	chr12.hg19:g.56398461A>G	ENSP00000377668:p.Thr430Ala	0					SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A	p.T430A			1	2	3	2.002308	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)	3	2012	+				Missense_Mutation	SNP	ENST00000394109.3	1	1	hg19	c.1288A>G	CCDS8901.2	0	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134990	0.56828	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.96	4.96	0.65561	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	L	0.42686	1.345	0.58432	D	0.999992	B	0.23249	0.082	B	0.27887	0.084	T	0.71045	-0.4706	10	0.15499	T	0.54	-12.6074	14.053	0.64749	1.0:0.0:0.0:0.0	.	430	P51687	SUOX_HUMAN	A	430	ENSP00000348440:T430A;ENSP00000266971:T430A;ENSP00000377674:T430A;ENSP00000450245:T430A;ENSP00000377668:T430A	ENSP00000266971:T430A	T	+	1	0	0	SUOX	54684728	54684728	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.278000	0.89899	2.221000	0.72209	0.383000	0.25322	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-15.547140	1	0.170000	NM_000456			14	13		310	300	0		1	1		0	0	49	0		9.997071e-01	9.521336e-01	0	10	0	105	0	14	310
IKZF4	64375	broad.mit.edu	37	12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000262032.5	+	12	1856	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662																																						ENST00000262032.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1489-1491)Gag>Tag		IKAROS family zinc finger 4 (Eos)							42.0	45.0	44.0					12																	56428846		1891	4109	6000	SO:0001587	stop_gained	64375	0	0					g.chr12:56428846G>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1489G>T	chr12.hg19:g.56428846G>T	ENSP00000262032:p.Glu497*	0					IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|RP11-603J24.4_ENST00000551846.1_RNA	p.E497*			1	2	3	2.002308	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)	12	1856	+			Q96JP3	Nonsense_Mutation	SNP	ENST00000262032.5	0	1	hg19	c.1489G>T	CCDS44917.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349796	0.82132	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	.	.	.	X	497;395;497;452	.	ENSP00000262032:E497X	E	+	1	0	0	IKZF4	54715113	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_022465			74	74		287	281	0		1	1		0	0	74	0		1	9.064057e-01	0	3	0	15	0	74	287
ERBB3	2065	broad.mit.edu	37	12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	683			R -> W (in dbSNP:rs56387488). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443																																						ENST00000267101.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2047-2049)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	132.0	137.0		2047	4.0	1.0	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	683/1343	56489582	1,13005	2203	4300	6503	SO:0001583	missense	2065	0	0					g.chr12:56489582C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2047C>T	chr12.hg19:g.56489582C>T	ENSP00000267101:p.Arg683Trp	0					ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	p.R683W	NM_001982.3	NP_001973.2	1	2	3	2.002308	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)	17	2487	+			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	1	1	hg19	c.2047C>T	CCDS31833.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804868	0.70682	2.27E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.78595	-1.19;-1.09;-1.18	4.86	3.96	0.45880	4.86	3.96	0.45880	.	0.000000	0.56097	D	0.000031	T	0.80116	0.4564	L	0.29908	0.895	0.44579	D	0.997543	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.965	T	0.81385	-0.0957	10	0.87932	D	0	.	10.8559	0.46798	0.4657:0.5343:0.0:0.0	rs56387488	624;683	P21860-4;P21860	.;ERBB3_HUMAN	W	683;40;624	ENSP00000267101:R683W;ENSP00000399178:R40W;ENSP00000408340:R624W	ENSP00000267101:R683W	R	+	1	2	2	ERBB3	54775849	54775849	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	1.258000	0.44101	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	0	0	1		19	11	2	1		1	1	96		96	95	1	2.060000	-20.000000	1	0.170000				93	93		476	463	1		1	1		1	0	96	0		1	9.999999e-01	0	130	0	116	0	93	476
ERBB3	2065	broad.mit.edu	37	12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537																																						ENST00000267101.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2764-2766)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							130.0	117.0	121.0					12																	56492614		2203	4300	6503	SO:0001583	missense	2065	0	0					g.chr12:56492614G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2764G>T	chr12.hg19:g.56492614G>T	ENSP00000267101:p.Asp922Tyr	0					ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y	p.D922Y	NM_001982.3	NP_001973.2	1	2	3	2.002308	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)	23	3204	+			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	1	1	hg19	c.2764G>T	CCDS31833.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323234	0.81580	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88544	0.6465	L	0.41824	1.3	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.983;0.992	D	0.88489	0.3074	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	863;42;922	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	922;279;863;45;163;42	ENSP00000267101:D922Y;ENSP00000399178:D279Y;ENSP00000408340:D863Y;ENSP00000449129:D163Y;ENSP00000448729:D42Y	ENSP00000267101:D922Y	D	+	1	0	0	ERBB3	54778881	54778881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.941000	0.99782	0.655000	0.94253	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000				85	82		390	371	1		1	1		0	0	101	0		1	1	0	107	0	153	0	85	390
PA2G4	5036	broad.mit.edu	37	12	56505030	56505030	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	334	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443																																						ENST00000303305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1000-1002)acC>acA		proliferation-associated 2G4, 38kDa							94.0	88.0	90.0					12																	56505030		2203	4300	6503	SO:0001819	synonymous_variant	5036	0	0					g.chr12:56505030C>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1002C>A	chr12.hg19:g.56505030C>A		0					PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.T334T	NM_006191.2	NP_006182.2	1	2	3	2.002308	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)	11	1421	+			O43846|Q9UM59	Silent	SNP	ENST00000303305.6	1	1	hg19	c.1002C>A	CCDS8902.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	1	0	1		2	2	2	0		0	0	103		103	98	1	2.060000	-3.132622	1	0.170000	NM_006191			71	69		332	323	1		1	1		0	0	103	0		1	1	0	202	0	467	0	71	332
ZC3H10	84872	broad.mit.edu	37	12	56514521	56514521	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	ENST00000257940.2	+	3	451	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	59							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TTGCCGATATCGCCACCCAGA	0.567																																						ENST00000257940.2	1.000000	0.150000	4.100000e-01	2.100000e-01	0.290000	0.345871	0.290000	0.280000																										0				11						c.(175-177)Cgc>Tgc		zinc finger CCCH-type containing 10							128.0	109.0	115.0					12																	56514521		2203	4300	6503	SO:0001583	missense	84872	0	0					g.chr12:56514521C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.175C>T	chr12.hg19:g.56514521C>T	ENSP00000257940:p.Arg59Cys	0					RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.R59C	NM_032786.1	NP_116175.1	1	2	3	2.002308	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)	3	451	+				Missense_Mutation	SNP	ENST00000257940.2	0	1	hg19	c.175C>T	CCDS8903.1	0	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181558	0.57800	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000546903	T;T	0.41400	1.0;1.0	4.82	4.82	0.62117	4.82	4.82	0.62117	Zinc finger, CCCH-type (2);	0.147583	0.39985	N	0.001211	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.54706	0.759	T	0.43605	-0.9381	10	0.66056	D	0.02	-5.2356	12.3108	0.54927	0.1695:0.8305:0.0:0.0	.	59	Q96K80	ZC3HA_HUMAN	C	59	ENSP00000450122:R59C;ENSP00000448881:R59C	ENSP00000257940:R59C	R	+	1	0	0	ZC3H10	54800788	54800788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.293000	0.51779	2.676000	0.91093	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.045269	1	0.170000	NM_032786			12	12		493	486	0		1	0		0	0	91	0		9.990450e-01	2.911869e-01	0	0	0	42	0	12	493
ZC3H10	84872	broad.mit.edu	37	12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	388	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592																																						ENST00000257940.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999880	0.990000	1.000000																										0				11						c.(1162-1164)gCt>gAt		zinc finger CCCH-type containing 10							124.0	97.0	106.0					12																	56515509		2203	4300	6503	SO:0001583	missense	84872	0	0					g.chr12:56515509C>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1163C>A	chr12.hg19:g.56515509C>A	ENSP00000257940:p.Ala388Asp	0					RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.A388D	NM_032786.1	NP_116175.1	1	2	3	2.002308	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)	3	1439	+				Missense_Mutation	SNP	ENST00000257940.2	1	1	hg19	c.1163C>A	CCDS8903.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986954	0.53934	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.63	4.75	0.60458	5.63	4.75	0.60458	.	0.131035	0.49305	D	0.000153	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	P	0.44627	0.839	B	0.37346	0.247	T	0.44952	-0.9294	9	0.72032	D	0.01	-10.0065	16.0428	0.80695	0.0:0.8651:0.1349:0.0	.	388	Q96K80	ZC3HA_HUMAN	D	388	.	ENSP00000257940:A388D	A	+	2	0	0	ZC3H10	54801776	54801776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.510000	0.67018	1.540000	0.49301	-0.127000	0.14921	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_032786			32	30		194	188	1		1	1		0	0	71	0		1	9.575910e-01	0	8	0	26	0	32	194
ESYT1	23344	broad.mit.edu	37	12	56536096	56536096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56536096G>A	ENST00000394048.5	+	25	2884	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	874	C2 4. {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)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTGCTGGGCTCATTATC	0.562																																						ENST00000394048.5	1.000000	0.320000	6.000000e-01	3.900000e-01	0.480000	0.518346	0.480000	0.470000																										0				28						c.(2620-2622)Ggc>Agc		extended synaptotagmin-like protein 1							123.0	110.0	114.0					12																	56536096		2203	4300	6503	SO:0001583	missense	23344	0	0					g.chr12:56536096G>A	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.2620G>A	chr12.hg19:g.56536096G>A	ENSP00000377612:p.Gly874Ser	0					ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S	p.G874S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	1	2	3	2.002308	Q9BSJ8	ESYT1_HUMAN		25	2884	+			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	1	1	hg19	c.2620G>A	CCDS8904.1	0	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813855	0.70912	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.94862	-3.54;-3.54;-3.54	4.55	4.55	0.56014	4.55	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.84773	2.715	0.80722	D	1	D;P	0.61080	0.989;0.714	P;P	0.57960	0.83;0.669	D	0.97190	0.9857	10	0.87932	D	0	-22.2159	15.2067	0.73183	0.0:0.0:1.0:0.0	.	884;874	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	874;828;884;884	ENSP00000377612:G874S;ENSP00000267113:G884S;ENSP00000445952:G884S	ENSP00000267113:G884S	G	+	1	0	0	ESYT1	54822363	54822363	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.961000	0.70356	2.537000	0.85549	0.561000	0.74099	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	0	0	1		2	2	2	0		0	0	144		144	141	1	2.060000	-4.113820	1	0.170000	NM_015292			30	30		720	699	0		1	1		0	0	144	0		1	9.998341e-01	0	16	0	300	0	30	720
SMARCC2	6601	broad.mit.edu	37	12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000267064.4	-	27	3607	c.3521T>C	c.(3520-3522)gTg>gCg	p.V1174A	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1112A|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1174	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657																																						ENST00000267064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3520-3522)gTg>gCg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							38.0	41.0	40.0					12																	56558134		2195	4280	6475	SO:0001583	missense	6601	0	0					g.chr12:56558134A>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3521T>C	chr12.hg19:g.56558134A>G	ENSP00000267064:p.Val1174Ala	0					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1112A|SMARCC2_ENST00000347471.4_Intron	p.V1174A	NM_003075.3	NP_003066.2	1	2	3	2.002308	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)	27	3607	-			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	1	1	hg19	c.3521T>C	CCDS8907.1	1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294410	0.60086	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.56941	1.2;0.43;0.44	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.55242	0.1908	N	0.14661	0.345	0.32803	D	0.500392	P;P;P	0.52577	0.954;0.924;0.924	D;P;P	0.65140	0.932;0.857;0.857	T	0.68217	-0.5467	10	0.87932	D	0	-14.2644	14.4903	0.67647	1.0:0.0:0.0:0.0	.	1112;1116;1174	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	A	1112;1205;1174	ENSP00000377591:V1112A;ENSP00000449396:V1205A;ENSP00000267064:V1174A	ENSP00000267064:V1174A	V	-	2	0	0	SMARCC2	54844401	54844401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	2.132000	0.65825	0.460000	0.39030	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-20.000000	1	0.170000				110	108		392	379	1		1	1		0	0	75	0		1	1	0	39	0	77	0	110	392
SMARCC2	6601	broad.mit.edu	37	12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000267064.4	-	27	3499	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S1169F|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1138	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637																																						ENST00000267064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3412-3414)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							76.0	70.0	72.0					12																	56558242		2203	4300	6503	SO:0001583	missense	6601	0	0					g.chr12:56558242G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3413C>T	chr12.hg19:g.56558242G>A	ENSP00000267064:p.Ser1138Phe	0					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S1169F|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron	p.S1138F	NM_003075.3	NP_003066.2	1	2	3	2.002308	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)	27	3499	-			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	1	1	hg19	c.3413C>T	CCDS8907.1	1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197876	0.58126	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000278	T	0.47820	0.1466	N	0.08118	0	0.36275	D	0.85539	D	0.55605	0.972	D	0.69142	0.962	T	0.55127	-0.8189	9	.	.	.	-11.0486	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1138	Q8TAQ2	SMRC2_HUMAN	F	1169;1138	ENSP00000449396:S1169F;ENSP00000267064:S1138F	.	S	-	2	0	0	SMARCC2	54844509	54844509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.639000	0.89480	0.563000	0.77884	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1		2	2	2	0		0	0	101		101	97	1	2.060000	-20.000000	1	0.170000				128	124		515	496	1		1	1		0	0	101	0		1	1	0	31	0	101	0	128	515
SMARCC2	6601	broad.mit.edu	37	12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000267064.4	-	21	2225	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E744D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	713					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552																																						ENST00000267064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2137-2139)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							136.0	125.0	129.0					12																	56565170		2203	4300	6503	SO:0001583	missense	6601	0	0					g.chr12:56565170C>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2139G>T	chr12.hg19:g.56565170C>A	ENSP00000267064:p.Glu713Asp	0					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E744D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D	p.E713D	NM_003075.3	NP_003066.2	1	2	3	2.002308	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)	21	2225	-			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	1	1	hg19	c.2139G>T	CCDS8907.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855436	0.51376	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48522	1.01;0.81;0.84;0.83	5.3	3.46	0.39613	5.3	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.31294	0.92	0.45129	D	0.99814	D;D;D;D;D	0.61697	0.984;0.99;0.984;0.984;0.99	D;D;D;D;D	0.73380	0.956;0.98;0.956;0.956;0.98	T	0.40831	-0.9542	10	0.12766	T	0.61	-20.1129	6.9306	0.24439	0.0:0.6437:0.0:0.3563	.	633;744;748;713;744	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	744;744;744;713	ENSP00000377591:E744D;ENSP00000449396:E744D;ENSP00000302919:E744D;ENSP00000267064:E713D	ENSP00000267064:E713D	E	-	3	2	2	SMARCC2	54851437	54851437	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	0.250000	0.18235	0.729000	0.32403	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.609694	1	0.170000				78	77		305	297	1		1	1		0	0	59	0		1	1	0	56	0	142	0	78	305
ANKRD52	283373	broad.mit.edu	37	12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	791										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617																																						ENST00000267116.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2371-2373)Gga>Aga		ankyrin repeat domain 52							23.0	26.0	25.0					12																	56639194		2061	4198	6259	SO:0001583	missense	283373	1	121002	27				g.chr12:56639194C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2371G>A	chr12.hg19:g.56639194C>T	ENSP00000267116:p.Gly791Arg	0					ANKRD52_ENST00000548241.1_5'Flank	p.G791R	NM_173595.3	NP_775866.2	1	2	3	2.002308	Q8NB46	ANR52_HUMAN		21	2492	-			A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	1	1	hg19	c.2371G>A	CCDS44920.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230425	0.79688	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27890	1.64	4.07	4.07	0.47477	4.07	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.330506	0.28182	N	0.016299	T	0.54078	0.1836	M	0.72118	2.19	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.60449	-0.7261	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	791	Q8NB46	ANR52_HUMAN	R	791	ENSP00000267116:G791R	ENSP00000267116:G791R	G	-	1	0	0	ANKRD52	54925461	54925461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.022000	0.70839	2.291000	0.77112	0.491000	0.48974	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_173595			32	32		112	111	1		1	1		0	0	16	0		1	9.999221e-01	0	14	0	42	0	32	112
ANKRD52	283373	broad.mit.edu	37	12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	649										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642																																						ENST00000267116.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1945-1947)Cgc>Tgc		ankyrin repeat domain 52							28.0	33.0	31.0					12																	56641840		2063	4196	6259	SO:0001583	missense	283373	1	121000	31				g.chr12:56641840G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1945C>T	chr12.hg19:g.56641840G>A	ENSP00000267116:p.Arg649Cys	0						p.R649C	NM_173595.3	NP_775866.2	1	2	3	2.002308	Q8NB46	ANR52_HUMAN		18	2066	-			A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	1	1	hg19	c.1945C>T	CCDS44920.1	1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147421	0.57151	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16196	2.36	4.42	4.42	0.53409	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.175676	0.47455	D	0.000236	T	0.11793	0.0287	N	0.17474	0.49	0.51012	D	0.999909	D	0.54397	0.966	B	0.42882	0.401	T	0.03148	-1.1067	10	0.52906	T	0.07	.	12.0765	0.53647	0.0:0.0:0.8272:0.1728	.	649	Q8NB46	ANR52_HUMAN	C	649	ENSP00000267116:R649C	ENSP00000267116:R649C	R	-	1	0	0	ANKRD52	54928107	54928107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.148000	0.42235	2.474000	0.83562	0.467000	0.42956	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_173595			35	34		141	138	0		1	1		0	0	32	0		1	9.997739e-01	0	22	0	34	0	35	141
ANKRD52	283373	broad.mit.edu	37	12	56647086	56647086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	362										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572																																						ENST00000267116.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1084-1086)ggC>ggT		ankyrin repeat domain 52							69.0	72.0	71.0					12																	56647086		2105	4227	6332	SO:0001819	synonymous_variant	283373	1	121058	28				g.chr12:56647086G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1086C>T	chr12.hg19:g.56647086G>A		0						p.G362G	NM_173595.3	NP_775866.2	1	2	3	2.002308	Q8NB46	ANR52_HUMAN		10	1207	-			A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	1	1	hg19	c.1086C>T	CCDS44920.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_173595			64	64		293	286	1		1	1		0	0	78	0		1	9.988805e-01	0	13	0	36	0	64	293
ANKRD52	283373	broad.mit.edu	37	12	56647941	56647941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	272										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557																																						ENST00000267116.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(814-816)ggC>ggT		ankyrin repeat domain 52							116.0	134.0	128.0					12																	56647941		2090	4238	6328	SO:0001819	synonymous_variant	283373	0	0					g.chr12:56647941G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.816C>T	chr12.hg19:g.56647941G>A		0						p.G272G	NM_173595.3	NP_775866.2	1	2	3	2.002308	Q8NB46	ANR52_HUMAN		8	937	-			A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	1	1	hg19	c.816C>T	CCDS44920.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_173595			118	115		512	499	1		1	1		0	0	128	0		1	9.997786e-01	0	15	0	40	0	118	512
ANKRD52	283373	broad.mit.edu	37	12	56651145	56651145	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	38										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCTCTTGGTCCTGGGAAGGC	0.587																																						ENST00000267116.7	1.000000	0.860000	1	9.900000e-01	0.990000	0.992185	0.990000	1.000000																										0				29						c.(112-114)Gac>Tac		ankyrin repeat domain 52							54.0	55.0	55.0					12																	56651145		2023	4173	6196	SO:0001630	splice_region_variant	283373	0	0					g.chr12:56651145C>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.112-1G>T	chr12.hg19:g.56651145C>A		0						p.D38Y	NM_173595.3	NP_775866.2	1	2	3	2.002308	Q8NB46	ANR52_HUMAN		3	233	-			A6NE79|B1Q2K2	Splice_Site	SNP	ENST00000267116.7	1	0	hg19	c.112G>T	CCDS44920.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399545	0.83120	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.19532	2.14	4.14	4.14	0.48551	4.14	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59910	-0.7365	10	0.66056	D	0.02	.	15.709	0.77609	0.0:1.0:0.0:0.0	.	38	Q8NB46	ANR52_HUMAN	Y	38	ENSP00000267116:D38Y	ENSP00000267116:D38Y	D	-	1	0	0	ANKRD52	54937412	54937412	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.507000	0.81676	2.304000	0.77564	0.591000	0.81541	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-15.937430	1	0.170000	NM_173595	Missense_Mutation		8	8		42	42	1		1	1		0	0	15	0		9.914174e-01	9.245657e-01	0	2	0	25	0	8	42
PAN2	9924	broad.mit.edu	37	12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CGCTCCAAGGCTGGGCCAAAA	0.512																																						ENST00000425394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(310-312)Gcc>Tcc		PAN2 poly(A) specific ribonuclease subunit	Vitamin A(DB00162)						55.0	53.0	53.0					12																	56722398		2203	4300	6503	SO:0001583	missense	9924	0	0					g.chr12:56722398C>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.310G>T	chr12.hg19:g.56722398C>A	ENSP00000401721:p.Ala104Ser	0					PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	p.A104S	NM_001127460.2	NP_001120932	1	2	3	2.002308	Q9HBH5	RDH14_HUMAN		3	686	-				Missense_Mutation	SNP	ENST00000425394.2	1	1	hg19	c.310G>T	CCDS44922.1	1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569189	0.28003	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.28	0.28536	5.07	2.28	0.28536	WD40 repeat-like-containing domain (1);	0.360372	0.31612	N	0.007360	T	0.16128	0.0388	N	0.04090	-0.28	0.33195	D	0.551396	B;B;B	0.16802	0.019;0.019;0.011	B;B;B	0.15870	0.014;0.014;0.006	T	0.35649	-0.9780	10	0.02654	T	1	-4.814	9.5316	0.39198	0.0:0.766:0.0:0.234	.	104;104;104	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	104	ENSP00000401721:A104S;ENSP00000388231:A104S;ENSP00000257931:A104S;ENSP00000449861:A104S	ENSP00000257931:A104S	A	-	1	0	0	PAN2	55008665	55008665	0.789000	0.28775	0.937000	0.37676	0.963000	0.63663	1.324000	0.33712	0.419000	0.25927	0.650000	0.86243	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014871			45	45		199	195	1		1	1		0	0	55	0		1	9.614978e-01	0	8	0	18	0	45	199
STAT2	6773	broad.mit.edu	37	12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A	rs200501174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	2					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)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458																																						ENST00000314128.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(4-6)gCg>gTg		signal transducer and activator of transcription 2, 113kDa							84.0	74.0	78.0					12																	56750351		2203	4300	6503	SO:0001583	missense	6773	1	121412	27				g.chr12:56750351G>A	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.5C>T	chr12.hg19:g.56750351G>A	ENSP00000315768:p.Ala2Val	0					STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V	p.A2V			1	2	3	2.002308	P52630	STAT2_HUMAN		2	28	-			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	1	1	hg19	c.5C>T	CCDS8917.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460637	0.84317	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.57752	0.38;0.38;0.38	4.85	4.85	0.62838	4.85	4.85	0.62838	STAT transcription factor, protein interaction (4);	0.308797	0.34725	N	0.003727	T	0.73273	0.3566	M	0.80982	2.52	0.43714	D	0.996183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.968	T	0.77029	-0.2739	10	0.87932	D	0	-15.0659	15.3582	0.74443	0.0:0.0:1.0:0.0	.	2;2;2	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	2	ENSP00000315768:A2V;ENSP00000450751:A2V;ENSP00000387354:A2V	ENSP00000315768:A2V	A	-	2	0	0	STAT2	55036618	55036618	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	6.130000	0.71663	2.700000	0.92200	0.563000	0.77884	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_005419			55	55		253	250	1		1	1		0	0	63	0		1	1	0	28	0	168	0	55	253
APOF	319	broad.mit.edu	37	12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000557235.1_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527																																						ENST00000398189.3	1.000000	0.250000	6.400000e-01	3.500000e-01	0.470000	0.509183	0.470000	0.440000																										0				6						c.(733-735)Ctt>Ttt		apolipoprotein F							95.0	94.0	95.0					12																	56755257		1965	4162	6127	SO:0001583	missense	319	0	0					g.chr12:56755257G>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.733C>T	chr12.hg19:g.56755257G>A	ENSP00000381250:p.Leu245Phe	0					STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.L227F|STAT2_ENST00000314128.4_5'Flank	p.L245F	NM_001638.2	NP_001629.1	1	2	3	2.002308	Q13790	APOF_HUMAN		2	810	-			Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	1	1	hg19	c.733C>T	CCDS44923.1	0	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302675	0.81136	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.51325	0.71;0.71	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.34088	N	0.004277	T	0.66703	0.2816	M	0.62723	1.935	0.42344	D	0.992346	D	0.89917	1.0	D	0.87578	0.998	T	0.68938	-0.5277	10	0.72032	D	0.01	-8.6796	16.355	0.83232	0.0:0.0:1.0:0.0	.	245	Q13790	APOF_HUMAN	F	245;227	ENSP00000381250:L245F;ENSP00000440997:L227F	ENSP00000381250:L245F	L	-	1	0	0	APOF	55041524	55041524	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.441000	0.52893	2.677000	0.91161	0.655000	0.94253	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.954326	1	0.170000				13	13		329	318	0		1			0	0	77	0		9.994512e-01	0	0	0	0	0	0	13	329
TIMELESS	8914	broad.mit.edu	37	12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000553532.1	-	27	3539	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1129Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552																																						ENST00000553532.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3388-3390)cGa>cAa		timeless circadian clock		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162.0	171.0	168.0		3389	-5.1	0.0	12	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1130/1209	56811983	2,13004	2203	4300	6503	SO:0001583	missense	8914	9	121412	47				g.chr12:56811983C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3389G>A	chr12.hg19:g.56811983C>T	ENSP00000450607:p.Arg1130Gln	0					TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1129Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q	p.R1130Q			1	2	3	2.002308				27	3539	-				Missense_Mutation	SNP	ENST00000553532.1	1	1	hg19	c.3389G>A	CCDS8918.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238406	0.39598	2.27E-4	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11277	2.79;2.79;2.79	5.37	-5.08	0.02929	5.37	-5.08	0.02929	Timeless C-terminal (1);	0.863170	0.10042	N	0.723288	T	0.03651	0.0104	N	0.04043	-0.29	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.47699	-0.9097	10	0.13108	T	0.6	-0.0036	8.9244	0.35632	0.0:0.3483:0.1039:0.5478	.	1130	Q9UNS1	TIM_HUMAN	Q	1129;1130;627	ENSP00000229201:R1129Q;ENSP00000450607:R1130Q;ENSP00000450848:R627Q	ENSP00000229201:R1130Q	R	-	2	0	0	TIMELESS	55098250	55098250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.647000	0.05444	-0.126000	0.14955	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	1		2	2	2	0		0	0	252		252	248	1	2.060000	-3.321968	1	0.170000	NM_003920			211	206		1014	998	1		1	1		0	0	252	0		1	9.999136e-01	0	18	0	47	0	211	1014
TIMELESS	8914	broad.mit.edu	37	12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000553532.1	-	5	544	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F|TIMELESS_ENST00000229201.4_Missense_Mutation_p.V132F					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512																																						ENST00000553532.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(394-396)Gtc>Ttc		timeless circadian clock							84.0	79.0	80.0					12																	56827200		2203	4300	6503	SO:0001583	missense	8914	0	0					g.chr12:56827200C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.394G>T	chr12.hg19:g.56827200C>A	ENSP00000450607:p.Val132Phe	0					TIMELESS_ENST00000229201.4_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F	p.V132F			1	2	3	2.002308				5	544	-				Missense_Mutation	SNP	ENST00000553532.1	1	1	hg19	c.394G>T	CCDS8918.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.50001	0.76;0.76;0.76	5.42	4.53	0.55603	5.42	4.53	0.55603	Timeless protein (1);	0.122383	0.56097	D	0.000036	T	0.69278	0.3093	M	0.83223	2.63	0.46701	D	0.999161	D;D	0.76494	0.999;0.999	D;D	0.71414	0.971;0.973	T	0.74996	-0.3473	10	0.87932	D	0	-19.0421	13.3854	0.60793	0.0:0.9229:0.0:0.0771	.	132;132	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	F	132	ENSP00000229201:V132F;ENSP00000450607:V132F;ENSP00000450848:V132F	ENSP00000229201:V132F	V	-	1	0	0	TIMELESS	55113467	55113467	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.872000	0.56085	1.439000	0.47511	0.650000	0.86243	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_003920			59	60		254	249	1		1	1		0	0	82	0		1	9.851242e-01	0	12	0	19	0	59	254
MIP	4284	broad.mit.edu	37	12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	34					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582																																						ENST00000257979.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(100-102)tgG>tgA		major intrinsic protein of lens fiber							89.0	87.0	88.0					12																	56848296		2203	4300	6503	SO:0001587	stop_gained	4284	0	0					g.chr12:56848296C>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.102G>A	chr12.hg19:g.56848296C>T	ENSP00000257979:p.Trp34*	0					MIP_ENST00000555551.1_Intron	p.W34*	NM_012064.3	NP_036196.1	1	2	3	2.002308	P30301	MIP_HUMAN		1	130	-			Q17R41	Nonsense_Mutation	SNP	ENST00000257979.4	0	1	hg19	c.102G>A	CCDS8919.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.430354	0.96150	.	.	ENSG00000135517	ENST00000257979	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2643	18.1394	0.89634	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000257979:W34X	W	-	3	0	0	MIP	55134563	55134563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.657000	0.90304	0.655000	0.94253	TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_012064			73	73		392	383	1		1			0	0	100	0		1	0	0	0	0	0	0	73	392
GLS2	27165	broad.mit.edu	37	12	56866494	56866494	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	497					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423																																						ENST00000311966.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1489-1491)ggC>ggT		glutaminase 2 (liver, mitochondrial)	L-Glutamine(DB00130)						178.0	147.0	158.0					12																	56866494		2203	4300	6503	SO:0001819	synonymous_variant	27165	0	0					g.chr12:56866494G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1491C>T	chr12.hg19:g.56866494G>A		0					GLS2_ENST00000476991.1_5'Flank	p.G497G	NM_013267.2	NP_037399.2	1	2	3	2.002308	Q9UI32	GLSL_HUMAN		15	1769	-			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	1	1	hg19	c.1491C>T	CCDS8921.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_013267			95	94		359	353	1		1	1		0	0	84	0		1	9.504112e-01	0	6	0	15	0	95	359
BAZ2A	11176	broad.mit.edu	37	12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000551812.1	-	10	2204	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	671	Lys-rich.				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)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCGACCCCGTTTCACCTTG	0.522																																						ENST00000551812.1	1.000000	0.250000	8.400000e-01	3.800000e-01	0.560000	0.602232	0.560000	1.000000																										0				31						c.(2011-2013)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 2A							78.0	74.0	75.0					12																	57003607		1912	4128	6040	SO:0001583	missense	11176	0	0					g.chr12:57003607G>A	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.2011C>T	chr12.hg19:g.57003607G>A	ENSP00000446880:p.Arg671Trp	0					BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W	p.R671W	NM_013449.3	NP_038477.2	1	2	3	2.002308	Q9UIF9	BAZ2A_HUMAN		10	2204	-			B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	1	1	hg19	c.2011C>T	CCDS44924.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045845	0.75846	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.02	4.1	0.47936	5.02	4.1	0.47936	AT hook, DNA-binding motif (1);	0.122860	0.53938	D	0.000052	T	0.32315	0.0825	L	0.48642	1.525	0.46927	D	0.99925	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.04481	-1.0948	10	0.87932	D	0	.	11.8124	0.52189	0.0:0.0:0.6821:0.3179	.	669;671	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	W	641;639;671;669	ENSP00000368754:R641W;ENSP00000179765:R639W;ENSP00000446880:R671W;ENSP00000447941:R669W	ENSP00000179765:R639W	R	-	1	2	2	BAZ2A	55289874	55289874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	1.423000	0.47198	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.947739	1	0.170000	NM_013449			7	7		150	148	0		1	1		0	0	28	0		9.800218e-01	9.617620e-01	0	9	0	119	0	7	150
BAZ2A	11176	broad.mit.edu	37	12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000551812.1	-	6	1559	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	456					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.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562																																						ENST00000551812.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999523	0.990000	1.000000																										3	Substitution - Missense(3)	p.A456T(2)|p.A492T(1)	endometrium(3)	31						c.(1366-1368)Gca>Aca		bromodomain adjacent to zinc finger domain, 2A							67.0	72.0	70.0					12																	57005806		1919	4149	6068	SO:0001583	missense	11176	2	120906	29				g.chr12:57005806C>T	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.1366G>A	chr12.hg19:g.57005806C>T	ENSP00000446880:p.Ala456Thr	0					BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T	p.A456T	NM_013449.3	NP_038477.2	1	2	3	2.002308	Q9UIF9	BAZ2A_HUMAN		6	1559	-			B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	1	1	hg19	c.1366G>A	CCDS44924.1	1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635326	0.14322	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.85	2.97	0.34412	3.85	2.97	0.34412	.	0.421480	0.19413	N	0.114887	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	P;B	0.34837	0.472;0.185	B;B	0.21151	0.033;0.019	T	0.11275	-1.0594	10	0.15066	T	0.55	.	5.0732	0.14617	0.2041:0.6891:0.0:0.1068	.	454;456	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	T	426;424;456;454	ENSP00000368754:A426T;ENSP00000179765:A424T;ENSP00000446880:A456T;ENSP00000447941:A454T	ENSP00000179765:A424T	A	-	1	0	0	BAZ2A	55292073	55292073	0.997000	0.39634	0.980000	0.43619	0.018000	0.09664	1.540000	0.36115	1.239000	0.43787	-0.194000	0.12790	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.375952	1	0.170000	NM_013449			19	18		103	98	1		1	1		0	0	36	0		9.999913e-01	9.999999e-01	0	34	0	139	0	19	103
ATP5B	506	broad.mit.edu	37	12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|BAZ2A_ENST00000551812.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	477					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468																																						ENST00000262030.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1429-1431)cAt>cGt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							166.0	157.0	160.0					12																	57032949		2203	4300	6503	SO:0001583	missense	506	0	0					g.chr12:57032949T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1430A>G	chr12.hg19:g.57032949T>C	ENSP00000262030:p.His477Arg	0					BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000550162.1_5'Flank	p.H477R	NM_001686.3	NP_001677.2	1	2	3	2.002308	P06576	ATPB_HUMAN		9	1480	-			A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	1	1	hg19	c.1430A>G	CCDS8924.1	1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310785	0.60414	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76060	-0.99;-0.99;-0.99	5.77	5.77	0.91146	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55995	-0.8052	10	0.24483	T	0.36	-13.3117	15.1371	0.72576	0.0:0.0:0.0:1.0	.	477	P06576	ATPB_HUMAN	R	477;466;180	ENSP00000262030:H477R;ENSP00000450297:H466R;ENSP00000450233:H180R	ENSP00000262030:H477R	H	-	2	0	0	ATP5B	55319216	55319216	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.872000	0.87187	2.221000	0.72209	0.529000	0.55759	CAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000	NM_001686			131	129		582	567	1		1	1		0	0	168	0		1	1	0	825	0	2031	0	131	582
NACA	4666	broad.mit.edu	37	12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000454682.1	-	3	5677	c.5396C>A	c.(5395-5397)tCt>tAt	p.S1799Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1799	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGAGGCAGAGAGACTGGTGG	0.557			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.600000	1	8.000000e-01	0.990000	0.930352	0.990000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(5395-5397)tCt>tAt		nascent polypeptide-associated complex alpha subunit							43.0	41.0	42.0					12																	57109918		1568	3581	5149	SO:0001583	missense	4666	0	0					g.chr12:57109918G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5396C>A	chr12.hg19:g.57109918G>T	ENSP00000403817:p.Ser1799Tyr	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.S1799Y	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	5677	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.5396C>A		1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580373	0.28180	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.59906	0.23;0.68	3.77	3.77	0.43336	3.77	3.77	0.43336	.	.	.	.	.	T	0.54447	0.1859	N	0.08118	0	0.18873	N	0.999983	D;D	0.65815	0.995;0.994	P;P	0.62184	0.887;0.899	T	0.51764	-0.8664	9	0.87932	D	0	.	12.5832	0.56401	0.0:0.0:1.0:0.0	.	1799;646	E9PAV3;F8VU71	.;.	Y	1799;646	ENSP00000403817:S1799Y;ENSP00000448035:S646Y	ENSP00000403817:S1799Y	S	-	2	0	0	NACA	55396185	55396185	0.709000	0.27886	0.918000	0.36340	0.646000	0.38490	1.484000	0.35508	1.928000	0.55862	0.484000	0.47621	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.700780	1	0.170000	NM_005594			14	12		147	133	0		1	0		0	0	35	0		9.995815e-01	8.869180e-03	0	0	0	2	0	14	147
NACA	4666	broad.mit.edu	37	12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000454682.1	-	3	4872	c.4591G>T	c.(4591-4593)Gcg>Tcg	p.A1531S	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1531	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGAGTCGCTGTTGGGGCA	0.582			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(4591-4593)Gcg>Tcg		nascent polypeptide-associated complex alpha subunit							41.0	46.0	44.0					12																	57110723		1541	3532	5073	SO:0001583	missense	4666	0	0					g.chr12:57110723C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4591G>T	chr12.hg19:g.57110723C>A	ENSP00000403817:p.Ala1531Ser	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.A1531S	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	4872	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.4591G>T		1	.	.	.	.	.	.	.	.	.	.	C	4.474	0.087945	0.08583	.	.	ENSG00000196531	ENST00000454682	T	0.47869	0.83	2.83	1.55	0.23275	2.83	1.55	0.23275	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.15321	-1.0441	7	.	.	.	.	3.2622	0.06853	0.2245:0.5707:0.0:0.2048	.	1531	E9PAV3	.	S	1531	ENSP00000403817:A1531S	.	A	-	1	0	0	NACA	55396990	55396990	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.017000	0.03630	0.058000	0.16222	0.298000	0.19748	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NACA-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_005594			85	81		312	294	1		1	0		0	0	60	0		1	2.049521e-01	0	0	0	4	0	85	312
NACA	4666	broad.mit.edu	37	12	57111655	57111655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57111655G>A	ENST00000454682.1	-	3	3940	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1220	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCAGCTGGGGTTGTGGGGGC	0.647			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(3658-3660)aCc>aTc		nascent polypeptide-associated complex alpha subunit							61.0	75.0	71.0					12																	57111655		1095	2641	3736	SO:0001583	missense	4666	0	0					g.chr12:57111655G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3659C>T	chr12.hg19:g.57111655G>A	ENSP00000403817:p.Thr1220Ile	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.T1220I	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	3940	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.3659C>T		1	.	.	.	.	.	.	.	.	.	.	g	5.864	0.343665	0.11126	.	.	ENSG00000196531	ENST00000454682	T	0.44482	0.92	3.18	0.925	0.19424	3.18	0.925	0.19424	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	B	0.24618	0.107	B	0.25884	0.064	T	0.23583	-1.0184	7	.	.	.	.	7.972	0.30132	0.0:0.0:0.5635:0.4365	.	1220	E9PAV3	.	I	1220	ENSP00000403817:T1220I	.	T	-	2	0	0	NACA	55397922	55397922	0.009000	0.17119	0.000000	0.03702	0.181000	0.23173	1.415000	0.34748	0.273000	0.22049	0.186000	0.17326	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	146		146	0	1	2.060000	-20.000000	1	0.170000	NM_005594			131	0		545	0	0					0	0	146	0		0	0	0	0	0	0	0	131	545
NACA	4666	broad.mit.edu	37	12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000454682.1	-	3	1989	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	570	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGAAGGGGAATTTTTAGGG	0.502			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(1708-1710)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							66.0	66.0	66.0					12																	57113606		1568	3582	5150	SO:0001583	missense	4666	0	0					g.chr12:57113606A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1708T>C	chr12.hg19:g.57113606A>G	ENSP00000403817:p.Ser570Pro	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.S570P	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	1989	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.1708T>C		1	.	.	.	.	.	.	.	.	.	.	A	6.909	0.537275	0.13188	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60920	0.15;0.76	3.55	-0.573	0.11742	3.55	-0.573	0.11742	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.002;0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	3.5169	0.07728	0.5152:0.2055:0.2793:0.0	.	570;570	E9PAV3;F8VU71	.;.	P	570	ENSP00000403817:S570P;ENSP00000448035:S570P	ENSP00000403817:S570P	S	-	1	0	0	NACA	55399873	55399873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.020000	0.13466	-0.006000	0.14370	0.369000	0.22263	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_005594			48	47		162	158	1		1	0		0	0	57	0		1	0	0	0	0	1	0	48	162
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	304	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(910-912)tCt>tAt		nascent polypeptide-associated complex alpha subunit							57.0	55.0	55.0					12																	57114403		1568	3582	5150	SO:0001583	missense	4666	1	120354	27				g.chr12:57114403G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.911C>A	chr12.hg19:g.57114403G>T	ENSP00000403817:p.Ser304Tyr	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.S304Y	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	1192	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.911C>A		1	.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	0	NACA	55400670	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_005594			47	45		221	219	1		1			0	0	62	0		1	0	0	0	0	0	0	47	221
NACA	4666	broad.mit.edu	37	12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000454682.1	-	3	430	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	50	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGCAGGAGAGCAAGGAGG	0.562			T	BCL6	NHL																																	ENST00000454682.1	1.000000	0.470000	1	6.400000e-01	0.860000	0.837382	0.860000	1.000000				Dom	yes			Dom	yes		12	12q23-q24.1	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide				L	L	BCL6		NHL		0				10						c.(148-150)tCt>tAt		nascent polypeptide-associated complex alpha subunit							32.0	31.0	31.0					12																	57115165		1568	3582	5150	SO:0001583	missense	4666	0	0					g.chr12:57115165G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.149C>A	chr12.hg19:g.57115165G>T	ENSP00000403817:p.Ser50Tyr	0					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	p.S50Y	NM_001113203.2	NP_001106674.2	1	2	3	2.002308	E9PAV3	NACAM_HUMAN		3	430	-				Missense_Mutation	SNP	ENST00000454682.1	1	1	hg19	c.149C>A		1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661910	0.14645	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33216	1.42;1.42	3.46	3.46	0.39613	3.46	3.46	0.39613	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	T	0.18147	-1.0346	9	0.87932	D	0	.	10.6916	0.45875	0.0:0.0:1.0:0.0	.	50;50	E9PAV3;F8VU71	.;.	Y	50	ENSP00000403817:S50Y;ENSP00000448035:S50Y	ENSP00000403817:S50Y	S	-	2	0	0	NACA	55401432	55401432	0.438000	0.25602	0.048000	0.18961	0.100000	0.18952	3.563000	0.53784	1.959000	0.56917	0.456000	0.33151	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-16.701600	1	0.170000	NM_005594			12	12		158	152	0		1	0		0	0	26	0		9.990347e-01	6.116413e-03	0	0	0	2	0	12	158
HSD17B6	8630	broad.mit.edu	37	12	57167744	57167744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000554150.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	36					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607																																						ENST00000554643.1	1.000000	0.240000	6.000000e-01	3.300000e-01	0.440000	0.483323	0.440000	0.420000																										0				10						c.(106-108)ggC>ggT		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						59.0	59.0	59.0					12																	57167744		2203	4300	6503	SO:0001819	synonymous_variant	8630	0	0					g.chr12:57167744C>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.108C>T	chr12.hg19:g.57167744C>T		0					HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G	p.G36G			1	2	3	2.002308	O14756	H17B6_HUMAN		3	457	+			O43275	Silent	SNP	ENST00000554643.1	1	1	hg19	c.108C>T	CCDS8925.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.839266	1	0.170000	NM_003725			14	14		376	368	0		1	0		0	0	69	0		9.997286e-01	1.260891e-01	0	0	0	16	0	14	376
RDH16	8608	broad.mit.edu	37	12	57345960	57345960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(805-807)gaG>gaA		retinol dehydrogenase 16 (all-trans)							95.0	106.0	102.0					12																	57345960		2145	4259	6404	SO:0001819	synonymous_variant	8608	0	0					g.chr12:57345960C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.807G>A	chr12.hg19:g.57345960C>T		0					RDH16_ENST00000360752.4_5'UTR	p.E269E	NM_003708.3	NP_003699.3	1	2	3	2.002308	O75452	RDH16_HUMAN		4	1663	-			Q9UNV2	Silent	SNP	ENST00000398138.3	1	1	hg19	c.807G>A	CCDS41797.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_003708			51	50		225	221	1		1	1		0	0	53	0		1	9.227796e-02	0	2	0	1	0	51	225
RDH16	8608	broad.mit.edu	37	12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	52					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(154-156)cGa>cAa		retinol dehydrogenase 16 (all-trans)							61.0	66.0	65.0					12																	57351092		2203	4300	6503	SO:0001583	missense	8608	0	0					g.chr12:57351092C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.155G>A	chr12.hg19:g.57351092C>T	ENSP00000381206:p.Arg52Gln	0					RDH16_ENST00000360752.4_5'UTR	p.R52Q	NM_003708.3	NP_003699.3	1	2	3	2.002308	O75452	RDH16_HUMAN		1	1011	-			Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	1	1	hg19	c.155G>A	CCDS41797.1	1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488577	0.12641	.	.	ENSG00000139547	ENST00000398138	D	0.87887	-2.31	4.72	2.83	0.33086	4.72	2.83	0.33086	NAD(P)-binding domain (1);	0.000000	0.53938	D	0.000055	T	0.68550	0.3013	N	0.05177	-0.1	0.09310	N	0.999997	B	0.31435	0.323	B	0.28139	0.086	T	0.59526	-0.7438	10	0.39692	T	0.17	.	5.2471	0.15502	0.1676:0.6543:0.0:0.1781	.	52	O75452	RDH16_HUMAN	Q	52	ENSP00000381206:R52Q	ENSP00000381206:R52Q	R	-	2	0	0	RDH16	55637359	55637359	0.000000	0.05858	0.577000	0.28562	0.042000	0.13812	0.073000	0.14640	0.553000	0.29044	0.655000	0.94253	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-20.000000	1	0.170000	NM_003708			99	98		375	364	1		1	0		0	0	108	0		1	0	0	1	0	0	0	99	375
GPR182	11318	broad.mit.edu	37	12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	56					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592																																						ENST00000300098.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(166-168)Ctc>Atc		G protein-coupled receptor 182							211.0	189.0	197.0					12																	57389159		2203	4300	6503	SO:0001583	missense	11318	0	0					g.chr12:57389159C>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.166C>A	chr12.hg19:g.57389159C>A	ENSP00000300098:p.Leu56Ile	0					HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	p.L56I	NM_007264.3	NP_009195.1	1	2	3	2.002308	O15218	GP182_HUMAN		2	385	+				Missense_Mutation	SNP	ENST00000300098.1	1	1	hg19	c.166C>A	CCDS8927.1	1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759994	0.69763	.	.	ENSG00000166856	ENST00000300098	T	0.43294	0.95	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.40448	0.1117	L	0.34521	1.04	0.44201	D	0.997028	D	0.58620	0.983	P	0.53313	0.723	T	0.12192	-1.0557	10	0.41790	T	0.15	.	8.6249	0.33883	0.0:0.8967:0.0:0.1033	.	56	O15218	GP182_HUMAN	I	56	ENSP00000300098:L56I	ENSP00000300098:L56I	L	+	1	0	0	GPR182	55675426	55675426	1.000000	0.71417	0.897000	0.35233	0.901000	0.52897	3.782000	0.55401	2.504000	0.84457	0.561000	0.74099	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-3.461333	1	0.170000	NM_007264			145	144		614	603	1		1	0		0	0	141	0		1	0	0	0	0	1	0	145	614
GPR182	11318	broad.mit.edu	37	12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	176					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642																																						ENST00000300098.1	1.000000	0.360000	7.800000e-01	4.700000e-01	0.600000	0.631948	0.600000	0.580000																										0				15						c.(526-528)Ggc>Tgc		G protein-coupled receptor 182							74.0	64.0	67.0					12																	57389519		2203	4300	6503	SO:0001583	missense	11318	0	0					g.chr12:57389519G>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.526G>T	chr12.hg19:g.57389519G>T	ENSP00000300098:p.Gly176Cys	0					HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	p.G176C	NM_007264.3	NP_009195.1	1	2	3	2.002308	O15218	GP182_HUMAN		2	745	+				Missense_Mutation	SNP	ENST00000300098.1	1	1	hg19	c.526G>T	CCDS8927.1	0	.	.	.	.	.	.	.	.	.	.	g	8.415	0.844990	0.16963	.	.	ENSG00000166856	ENST00000300098	T	0.39056	1.1	4.44	1.61	0.23674	4.44	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.249082	0.38492	N	0.001661	T	0.37433	0.1003	L	0.54323	1.7	0.28950	N	0.890447	P	0.39326	0.668	B	0.42882	0.401	T	0.26018	-1.0115	10	0.48119	T	0.1	.	6.053	0.19796	0.1801:0.1574:0.6625:0.0	.	176	O15218	GP182_HUMAN	C	176	ENSP00000300098:G176C	ENSP00000300098:G176C	G	+	1	0	0	GPR182	55675786	55675786	0.999000	0.42202	0.031000	0.17742	0.034000	0.12701	3.007000	0.49536	0.235000	0.21160	-0.217000	0.12591	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-19.480680	1	0.170000	NM_007264			18	18		346	340	0		1			0	0	59	0		9.999808e-01	0	0	0	0	0	0	18	346
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542																																						ENST00000300098.1	1.000000	0.840000	1	9.200000e-01	0.990000	0.974590	0.990000	1.000000																										0				15						c.(931-933)Ctg>Ttg		G protein-coupled receptor 182							250.0	217.0	228.0					12																	57389924		2203	4300	6503	SO:0001819	synonymous_variant	11318	0	0					g.chr12:57389924C>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.931C>T	chr12.hg19:g.57389924C>T		0					HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	p.L311L	NM_007264.3	NP_009195.1	1	2	3	2.002308	O15218	GP182_HUMAN		2	1150	+				Silent	SNP	ENST00000300098.1	1	1	hg19	c.931C>T	CCDS8927.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	1		2	2	2	0		0	0	216		216	215	1	2.060000	-19.999910	1	0.170000	NM_007264			104	101		1104	1077	0		1			0	0	216	0		1	0	0	0	0	0	0	104	1104
ZBTB39	9880	broad.mit.edu	37	12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	590					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562																																						ENST00000300101.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1768-1770)Ctg>Atg		zinc finger and BTB domain containing 39							52.0	55.0	54.0					12																	57396934		2203	4300	6503	SO:0001583	missense	9880	0	0					g.chr12:57396934G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1768C>A	chr12.hg19:g.57396934G>T	ENSP00000300101:p.Leu590Met	0						p.L590M	NM_014830.2	NP_055645.1	1	2	3	2.002308	O15060	ZBT39_HUMAN		2	1853	-			A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	1	1	hg19	c.1768C>A	CCDS31839.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063297	0.36373	.	.	ENSG00000166860	ENST00000300101	T	0.10860	2.83	5.18	3.37	0.38596	5.18	3.37	0.38596	.	0.332649	0.25906	N	0.027539	T	0.10680	0.0261	N	0.19112	0.55	0.25436	N	0.988136	D	0.62365	0.991	P	0.51999	0.687	T	0.07829	-1.0752	10	0.72032	D	0.01	-7.7598	7.0407	0.25019	0.2693:0.0:0.7307:0.0	.	590	O15060	ZBT39_HUMAN	M	590	ENSP00000300101:L590M	ENSP00000300101:L590M	L	-	1	2	2	ZBTB39	55683201	55683201	0.051000	0.20477	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.777000	0.33496	0.655000	0.94253	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_014830			66	66		293	287	1		1	0		0	0	67	0		1	3.095153e-01	0	0	0	6	0	66	293
ZBTB39	9880	broad.mit.edu	37	12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522																																						ENST00000300101.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1213-1215)tGt>tAt		zinc finger and BTB domain containing 39							90.0	78.0	82.0					12																	57397488		2203	4300	6503	SO:0001583	missense	9880	0	0					g.chr12:57397488C>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1214G>A	chr12.hg19:g.57397488C>T	ENSP00000300101:p.Cys405Tyr	0						p.C405Y	NM_014830.2	NP_055645.1	1	2	3	2.002308	O15060	ZBT39_HUMAN		2	1299	-			A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	1	1	hg19	c.1214G>A	CCDS31839.1	1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587986	0.66105	.	.	ENSG00000166860	ENST00000300101	T	0.58652	0.32	5.6	5.6	0.85130	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85036	0.0920	10	0.87932	D	0	-7.2323	17.0969	0.86637	0.0:1.0:0.0:0.0	.	405	O15060	ZBT39_HUMAN	Y	405	ENSP00000300101:C405Y	ENSP00000300101:C405Y	C	-	2	0	0	ZBTB39	55683755	55683755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.644000	0.89710	0.655000	0.94253	TGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_014830			69	69		260	252	0		1	0		0	0	58	0		1	2.868597e-01	0	0	0	5	0	69	260
ZBTB39	9880	broad.mit.edu	37	12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507																																						ENST00000300101.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.995814	0.990000	1.000000																										0				16						c.(976-978)aGt>aTt		zinc finger and BTB domain containing 39							236.0	211.0	220.0					12																	57397725		2203	4300	6503	SO:0001583	missense	9880	0	0					g.chr12:57397725C>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.977G>T	chr12.hg19:g.57397725C>A	ENSP00000300101:p.Ser326Ile	0						p.S326I	NM_014830.2	NP_055645.1	1	2	3	2.002308	O15060	ZBT39_HUMAN		2	1062	-			A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	1	1	hg19	c.977G>T	CCDS31839.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842889	0.51057	.	.	ENSG00000166860	ENST00000300101	T	0.09723	2.95	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.161766	0.56097	D	0.000036	T	0.23410	0.0566	L	0.38175	1.15	0.47862	D	0.999532	D	0.65815	0.995	D	0.75484	0.986	T	0.00494	-1.1706	10	0.40728	T	0.16	-11.7735	15.6413	0.77006	0.0:1.0:0.0:0.0	.	326	O15060	ZBT39_HUMAN	I	326	ENSP00000300101:S326I	ENSP00000300101:S326I	S	-	2	0	0	ZBTB39	55683992	55683992	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.722000	0.54948	2.547000	0.85894	0.655000	0.94253	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	1		2	2	2	0		0	0	181		181	181	1	2.060000	-20.000000	1	0.170000	NM_014830			94	93		883	864	1		1	0		0	0	181	0		1	2.526907e-01	0	0	0	10	0	94	883
MYO1A	4640	broad.mit.edu	37	12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	639	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)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627																																						ENST00000442789.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1915-1917)Cga>Tga		myosin IA							53.0	52.0	52.0					12																	57431699		2203	4300	6503	SO:0001587	stop_gained	4640	1	121412	32				g.chr12:57431699G>A	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.1915C>T	chr12.hg19:g.57431699G>A	ENSP00000393392:p.Arg639*	0					MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000476795.1_5'Flank	p.R639*	NM_001256041.1	NP_001242970.1	1	2	3	2.002308	Q9UBC5	MYO1A_HUMAN		19	2202	-			Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	0	1	hg19	c.1915C>T	CCDS8929.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.067101	0.98040	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.13	3.09	0.35607	5.13	3.09	0.35607	.	0.070096	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0791	0.48049	0.0:0.0:0.666:0.334	.	.	.	.	X	639;639;477	.	ENSP00000300119:R639X	R	-	1	2	2	MYO1A	55717966	55717966	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	3.906000	0.56340	2.396000	0.81511	0.655000	0.94253	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.007011	1	0.170000	NM_005379			42	42		198	195	1		1	0		0	0	42	0		1	5.490853e-01	0	0	0	10	0	42	198
MYO1A	4640	broad.mit.edu	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	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)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577																																						ENST00000442789.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1525-1527)gCg>gTg		myosin IA		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		1526	4.6	1.0	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense	4640	7	121412	38				g.chr12:57432600G>A	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.1526C>T	chr12.hg19:g.57432600G>A	ENSP00000393392:p.Ala509Val	0					MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000476795.1_5'UTR	p.A509V	NM_001256041.1	NP_001242970.1	1	2	3	2.002308	Q9UBC5	MYO1A_HUMAN		17	1813	-			Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	1	1	hg19	c.1526C>T	CCDS8929.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	0	MYO1A	55718867	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	0	0	0		15	2	2	1		1	1	57		57	55	1	2.060000	-3.094238	1	0.170000	NM_005379			41	39		196	191	1		1	1		1	0	57	0		9.999210e-01	4.846279e-01	0	2	0	7	0	41	196
TMEM194A	23306	broad.mit.edu	37	12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	416						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463																																						ENST00000300128.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1246-1248)caG>caT		transmembrane protein 194A							122.0	102.0	109.0					12																	57453749		2203	4300	6503	SO:0001583	missense	23306	0	0					g.chr12:57453749C>A	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.1248G>T	chr12.hg19:g.57453749C>A	ENSP00000300128:p.Gln416His	0					TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	p.Q416H	NM_001130963.1	NP_001124435.1	1	2	3	2.002308	O14524	T194A_HUMAN		9	1271	-			Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	1	1	hg19	c.1248G>T	CCDS44927.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576794	0.86645	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.45276	0.91;0.9	5.61	3.78	0.43462	5.61	3.78	0.43462	.	0.050665	0.85682	D	0.000000	T	0.39200	0.1069	L	0.51422	1.61	0.33505	D	0.590422	P;P	0.44195	0.736;0.828	B;P	0.45138	0.28;0.471	T	0.56998	-0.7886	10	0.87932	D	0	-4.3227	6.9108	0.24335	0.0:0.7363:0.0:0.2637	.	416;343	O14524;O14524-2	T194A_HUMAN;.	H	343;416	ENSP00000368701:Q343H;ENSP00000300128:Q416H	ENSP00000300128:Q416H	Q	-	3	2	2	TMEM194A	55740016	55740016	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	1.595000	0.36708	1.364000	0.46038	0.561000	0.74099	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_015257			48	47		143	142	1		1	0		0	0	50	0		1	8.405503e-01	0	1	0	11	0	48	143
NAB2	4665	broad.mit.edu	37	12	57487215	57487215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	434					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652																																						ENST00000300131.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996216	0.990000	1.000000																										0				20						c.(1300-1302)acG>acA		NGFI-A binding protein 2 (EGR1 binding protein 2)							13.0	15.0	14.0					12																	57487215		2186	4281	6467	SO:0001819	synonymous_variant	4665	0	0					g.chr12:57487215G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1302G>A	chr12.hg19:g.57487215G>A		0					NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	p.T434T	NM_005967.3	NP_005958.1	1	2	3	2.002308	Q15742	NAB2_HUMAN		6	1680	+			B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	1	1	hg19	c.1302G>A	CCDS8930.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.699940	1	0.170000	NM_005967			11	11		60	59	1		1	1		0	0	16	0		9.986826e-01	9.993065e-01	0	11	0	67	0	11	60
STAT6	6778	broad.mit.edu	37	12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000300134.3	-	18	2324	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	667					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TAAGAAGGCACCATGGTAGGC	0.552																																						ENST00000300134.3	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.383445	0.330000	0.310000																										0				28						c.(1999-2001)Gtg>Atg		signal transducer and activator of transcription 6, interleukin-4 induced							179.0	183.0	181.0					12																	57492642		2203	4300	6503	SO:0001583	missense	6778	0	0					g.chr12:57492642C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1999G>A	chr12.hg19:g.57492642C>T	ENSP00000300134:p.Val667Met	0					STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M	p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	1	2	3	2.002308	P42226	STAT6_HUMAN		18	2324	-			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	1	1	hg19	c.1999G>A	CCDS8931.1	0	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074910	0.36566	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.91945	-2.7;-2.94;-2.7;-2.7;-2.94;-2.7;-1.14	5.91	-2.12	0.07165	5.91	-2.12	0.07165	.	0.859837	0.10251	N	0.697198	D	0.82962	0.5151	N	0.24115	0.695	0.29201	N	0.875242	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68232	-0.5463	10	0.46703	T	0.11	-1.3655	5.7139	0.17950	0.0:0.316:0.3716:0.3124	.	667;667	A8K4S9;P42226	.;STAT6_HUMAN	M	667;557;557;667;667;557;667;557;95;667	ENSP00000300134:V667M;ENSP00000445409:V557M;ENSP00000438451:V667M;ENSP00000451742:V667M;ENSP00000444530:V557M;ENSP00000401486:V667M;ENSP00000450428:V95M	ENSP00000300134:V667M	V	-	1	0	0	STAT6	55778909	55778909	0.020000	0.18652	0.064000	0.19789	0.933000	0.57130	-1.084000	0.03393	-0.754000	0.04715	-0.140000	0.14226	GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	0	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.159053	1	0.170000	NM_003153			11	11		399	391	0		1	1		0	0	79	0		9.981950e-01	9.998103e-01	0	28	0	554	0	11	399
STAT6	6778	broad.mit.edu	37	12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000300134.3	-	16	2202	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	626	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587																																						ENST00000300134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1876-1878)cGg>cAg		signal transducer and activator of transcription 6, interleukin-4 induced							92.0	95.0	94.0					12																	57493091		2203	4300	6503	SO:0001583	missense	6778	2	121412	33				g.chr12:57493091C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1877G>A	chr12.hg19:g.57493091C>T	ENSP00000300134:p.Arg626Gln	0					STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q	p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	1	2	3	2.002308	P42226	STAT6_HUMAN		16	2202	-			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	1	1	hg19	c.1877G>A	CCDS8931.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610067	0.46527	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.8	4.8	0.61643	4.8	4.8	0.61643	SH2 motif (2);	0.203658	0.43416	D	0.000561	D	0.88959	0.6579	N	0.12182	0.205	0.36482	D	0.867902	B;P	0.44946	0.154;0.846	B;B	0.27380	0.01;0.079	D	0.92008	0.5616	10	0.45353	T	0.12	-18.9484	15.7354	0.77839	0.0:1.0:0.0:0.0	.	626;626	A8K4S9;P42226	.;STAT6_HUMAN	Q	626;516;516;626;626;516;626;516;54;626	ENSP00000300134:R626Q;ENSP00000445409:R516Q;ENSP00000438451:R626Q;ENSP00000451742:R626Q;ENSP00000444530:R516Q;ENSP00000401486:R626Q;ENSP00000450428:R54Q	ENSP00000300134:R626Q	R	-	2	0	0	STAT6	55779358	55779358	0.961000	0.32948	1.000000	0.80357	0.991000	0.79684	1.989000	0.40707	2.664000	0.90586	0.561000	0.74099	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-3.279379	1	0.170000	NM_003153			116	110		421	415	1		1	1		0	0	89	0		1	1	0	140	0	340	0	116	421
STAT6	6778	broad.mit.edu	37	12	57499063	57499063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499063G>A	ENST00000300134.3	-	9	1197	c.872C>T	c.(871-873)gCt>gTt	p.A291V	STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	291					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCGAACTCCAGCCTGGAACTT	0.627																																						ENST00000300134.3	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.381165	0.330000	0.310000																										0				28						c.(871-873)gCt>gTt		signal transducer and activator of transcription 6, interleukin-4 induced							41.0	46.0	44.0					12																	57499063		2203	4300	6503	SO:0001583	missense	6778	0	0					g.chr12:57499063G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.872C>T	chr12.hg19:g.57499063G>A	ENSP00000300134:p.Ala291Val	0					STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V	p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	1	2	3	2.002308	P42226	STAT6_HUMAN		9	1197	-			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	0	1	hg19	c.872C>T	CCDS8931.1	0	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004075	0.93287	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.64	4.64	0.57946	4.64	4.64	0.57946	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.060447	0.64402	D	0.000003	T	0.76601	0.4010	N	0.20304	0.555	0.58432	D	0.999997	D;D	0.71674	0.998;0.994	D;D	0.70227	0.968;0.949	T	0.80520	-0.1346	10	0.87932	D	0	-10.5878	15.0492	0.71854	0.0:0.0:1.0:0.0	.	291;291	A8K4S9;P42226	.;STAT6_HUMAN	V	291;181;181;291;291;181;291;181;291	ENSP00000300134:A291V;ENSP00000445409:A181V;ENSP00000438451:A291V;ENSP00000451742:A291V;ENSP00000444530:A181V;ENSP00000401486:A291V	ENSP00000300134:A291V	A	-	2	0	0	STAT6	55785330	55785330	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.485000	0.97942	2.403000	0.81681	0.561000	0.74099	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.703773	1	0.170000	NM_003153			11	10		402	394	0		1	1		0	0	72	0		9.981706e-01	9.927927e-01	0	15	0	294	0	11	402
STAT6	6778	broad.mit.edu	37	12	57499295	57499295	+	Silent	SNP	C	C	T	rs559027154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000300134.3	-	8	1093	c.768G>A	c.(766-768)tcG>tcA	p.S256S	STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	256					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16429	0.0		0.0	False		,,,				2504	0.0					ENST00000300134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(766-768)tcG>tcA		signal transducer and activator of transcription 6, interleukin-4 induced							48.0	52.0	51.0					12																	57499295		2203	4300	6503	SO:0001819	synonymous_variant	6778	13	121412	38				g.chr12:57499295C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.768G>A	chr12.hg19:g.57499295C>T		0					STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000543873.2_Silent_p.S256S	p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	1	2	3	2.002308	P42226	STAT6_HUMAN		8	1093	-			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	ENST00000300134.3	1	1	hg19	c.768G>A	CCDS8931.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-3.505309	1	0.170000	NM_003153			38	36		165	161	1		1	1		0	0	47	0		1	1	0	141	0	315	0	38	165
STAT6	6778	broad.mit.edu	37	12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000300134.3	-	8	1085	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGATGCCCGGGTCTTGGGC	0.617																																						ENST00000300134.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				28						c.(760-762)Cgg>Tgg		signal transducer and activator of transcription 6, interleukin-4 induced							44.0	48.0	46.0					12																	57499303		2203	4300	6503	SO:0001583	missense	6778	2	121410	29				g.chr12:57499303G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.760C>T	chr12.hg19:g.57499303G>A	ENSP00000300134:p.Arg254Trp	0					STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W	p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	1	2	3	2.002308	P42226	STAT6_HUMAN		8	1085	-			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	1	1	hg19	c.760C>T	CCDS8931.1	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039745	0.35989	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.19	3.33	0.38152	5.19	3.33	0.38152	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.207808	0.33515	N	0.004828	T	0.55337	0.1914	N	0.22421	0.69	0.37815	D	0.928196	D;D	0.69078	0.997;0.983	P;P	0.54815	0.761;0.545	T	0.60311	-0.7288	10	0.72032	D	0.01	-18.7629	6.2986	0.21099	0.0923:0.0:0.7261:0.1816	.	254;254	A8K4S9;P42226	.;STAT6_HUMAN	W	254;144;144;254;254;144;254;144;254	ENSP00000300134:R254W;ENSP00000445409:R144W;ENSP00000438451:R254W;ENSP00000451742:R254W;ENSP00000444530:R144W;ENSP00000401486:R254W	ENSP00000300134:R254W	R	-	1	2	2	STAT6	55785570	55785570	0.990000	0.36364	1.000000	0.80357	0.005000	0.04900	2.916000	0.48813	0.749000	0.32854	-0.140000	0.14226	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-2.888141	1	0.170000	NM_003153			33	32		154	152	1		1	1		0	0	43	0		1	1	0	149	0	319	0	33	154
LRP1	4035	broad.mit.edu	37	12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000243077.3	+	6	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	RP11-545N8.3_ENST00000554476.1_RNA|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	226					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)			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)	ACACCTACGAGCACGCGGCAG	0.597																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999853	0.990000	1.000000																										0				184						c.(676-678)aGc>aTc		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						113.0	66.0	82.0					12																	57539109		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57539109G>T	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.677G>T	chr12.hg19:g.57539109G>T	ENSP00000243077:p.Ser226Ile	0					LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I	p.S226I	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		6	1143	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.677G>T	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421785	0.43020	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.91124	-2.65;-2.79;-2.6;-2.79	5.08	5.08	0.68730	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.130255	0.48286	D	0.000194	D	0.88043	0.6331	M	0.62723	1.935	0.37173	D	0.903141	B;B;B;P	0.45902	0.244;0.244;0.411;0.868	B;B;B;B	0.36666	0.075;0.079;0.097;0.23	D	0.90319	0.4343	10	0.42905	T	0.14	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	226;226;226;226	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	I	226	ENSP00000451449:S226I;ENSP00000243077:S226I;ENSP00000341264:S226I;ENSP00000451737:S226I	ENSP00000243077:S226I	S	+	2	0	0	LRP1	55825376	55825376	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	3.498000	0.53302	2.826000	0.97356	0.655000	0.94253	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_002332			30	30		180	176	1		1	1		0	0	45	0		1	1	0	18	0	254	0	30	180
LRP1	4035	broad.mit.edu	37	12	57559588	57559588	+	Splice_Site	SNP	C	C	T	rs532661685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	844					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)			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)	GTGCCCACAGCGAACCCATCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0					ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				184						c.(2530-2532)gCg>gTg		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68.0	69.0	68.0					12																	57559588		2203	4300	6503	SO:0001630	splice_region_variant	4035	1	121412	32				g.chr12:57559588C>T	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.2531-1C>T	chr12.hg19:g.57559588C>T		0						p.A844V	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		16	2997	+			Q2PP12|Q86SW0|Q8IVG8	Splice_Site	SNP	ENST00000243077.3	1	0	hg19	c.2531C>T	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456331	0.63401	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	N	0.26042	0.785	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	D	0.84772	0.0768	9	.	.	.	.	11.8265	0.52269	0.0:0.9158:0.0:0.0842	.	844	Q07954	LRP1_HUMAN	V	844	ENSP00000243077:A844V	.	A	+	2	0	0	LRP1	55845855	55845855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.597000	0.67577	2.826000	0.97356	0.561000	0.74099	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.363765	1	0.170000	NM_002332	Missense_Mutation		67	68		320	316	1		1	1		0	0	88	0		1	1	0	2	0	268	0	67	320
LRP1	4035	broad.mit.edu	37	12	57577289	57577289	+	Silent	SNP	C	C	T	rs560161034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1930					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)			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)	TCGACTTCCACGCTGGTGAGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19292	0.001		0.0	False		,,,				2504	0.0					ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				184						c.(5788-5790)caC>caT		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46.0	42.0	43.0					12																	57577289		2203	4300	6503	SO:0001819	synonymous_variant	4035	2	121410	27				g.chr12:57577289C>T	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.5790C>T	chr12.hg19:g.57577289C>T		0						p.H1930H	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		35	6256	+			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	1	1	hg19	c.5790C>T	CCDS8932.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	26		26	24	1	2.060000	-20.000000	1	0.170000	NM_002332			29	28		134	130	1		1	1		0	0	26	0		1	1	0	17	0	301	0	29	134
LRP1	4035	broad.mit.edu	37	12	57577893	57577893	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1985					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)			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)	CAGACCAGGGCTTTGATGTCA	0.612																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				184						c.(5953-5955)ggC>ggA		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86.0	61.0	70.0					12																	57577893		2203	4300	6503	SO:0001819	synonymous_variant	4035	0	0					g.chr12:57577893C>A	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.5955C>A	chr12.hg19:g.57577893C>A		0						p.G1985G	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		37	6421	+			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	1	1	hg19	c.5955C>A	CCDS8932.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_002332			33	33		171	167	1		1	1		0	0	33	0		1	1	0	16	0	400	0	33	171
LRP1	4035	broad.mit.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					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)			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)	ACCGGCATCGGCGTCCAGCTT	0.617																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				184						c.(6415-6417)gGc>gAc		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68.0	70.0	69.0					12																	57578941		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57578941G>A	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.6416G>A	chr12.hg19:g.57578941G>A	ENSP00000243077:p.Gly2139Asp	0						p.G2139D	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		40	6882	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.6416G>A	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	0	LRP1	55865208	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	111		111	108	1	2.060000	-20.000000	1	0.170000	NM_002332			82	81		413	405	1		1	1		0	0	111	0		1	1	0	15	0	263	0	82	413
LRP1	4035	broad.mit.edu	37	12	57587035	57587035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2544	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	GCCTGACCTGCGACGGCGTCC	0.612																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				184						c.(7630-7632)tgC>tgT		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98.0	80.0	86.0					12																	57587035		2203	4300	6503	SO:0001819	synonymous_variant	4035	3	121412	35				g.chr12:57587035C>T	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.7632C>T	chr12.hg19:g.57587035C>T		0					MIR1228_ENST00000408438.1_RNA	p.C2544C	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		46	8098	+			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	1	1	hg19	c.7632C>T	CCDS8932.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.322550	1	0.170000	NM_002332			76	75		339	334	1		1	1		0	0	89	0		1	1	0	18	0	465	0	76	339
LRP1	4035	broad.mit.edu	37	12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2577	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	CAGCAATGGGCGCTGTGTGTC	0.607																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				184						c.(7729-7731)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84.0	74.0	78.0					12																	57587393		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57587393C>T	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.7729C>T	chr12.hg19:g.57587393C>T	ENSP00000243077:p.Arg2577Cys	0					MIR1228_ENST00000408438.1_RNA	p.R2577C	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		47	8195	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.7729C>T	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873444	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	2577	Q07954	LRP1_HUMAN	C	2577	ENSP00000243077:R2577C	ENSP00000243077:R2577C	R	+	1	0	0	LRP1	55873660	55873660	0.990000	0.36364	0.993000	0.49108	0.571000	0.35966	3.867000	0.56047	2.606000	0.88127	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_002332			35	32		164	158	1		1	1		0	0	65	0		1	1	0	38	0	410	0	35	164
LRP1	4035	broad.mit.edu	37	12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T	rs367968116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2613	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	GTTCCGCTGCCGGGACGGGAC	0.607																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				184						c.(7837-7839)Cgg>Tgg		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C	TRP/ARG	0,4406		0,0,2203	97.0	89.0	92.0		7837	4.2	1.0	12		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2613/4545	57587714	1,13005	2203	4300	6503	SO:0001583	missense	4035	4	121412	39				g.chr12:57587714C>T	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.7837C>T	chr12.hg19:g.57587714C>T	ENSP00000243077:p.Arg2613Trp	0					MIR1228_ENST00000408438.1_RNA	p.R2613W	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		48	8303	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.7837C>T	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803636	0.50315	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	5.09	4.19	0.49359	5.09	4.19	0.49359	.	0.164278	0.37261	N	0.002175	D	0.96617	0.8896	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	D	0.96868	0.9637	10	0.66056	D	0.02	.	14.7368	0.69422	0.0:0.8543:0.1457:0.0	.	2613	Q07954	LRP1_HUMAN	W	2613	ENSP00000243077:R2613W	ENSP00000243077:R2613W	R	+	1	2	2	LRP1	55873981	55873981	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.355000	0.34068	1.368000	0.46115	0.650000	0.86243	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.356407	1	0.170000	NM_002332			50	49		249	243	1		1	1		0	0	48	0		1	1	0	16	0	363	0	50	249
LRP1	4035	broad.mit.edu	37	12	57588276	57588276	+	Silent	SNP	C	C	T	rs545868364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2686	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	GTGATGAGCGCGACTGCCCAG	0.677																																						ENST00000243077.3	1.000000	0.830000	1	9.200000e-01	0.990000	0.975249	0.990000	1.000000																										0				184						c.(8056-8058)cgC>cgT		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						85.0	85.0	85.0					12																	57588276		2203	4299	6502	SO:0001819	synonymous_variant	4035	8	121372	43				g.chr12:57588276C>T	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.8058C>T	chr12.hg19:g.57588276C>T		0					MIR1228_ENST00000408438.1_RNA	p.R2686R	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		49	8524	+			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	1	1	hg19	c.8058C>T	CCDS8932.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-19.731450	1	0.170000	NM_002332			82	82		858	846	0		1	1		0	0	147	0		1	1	0	7	0	358	0	82	858
LRP1	4035	broad.mit.edu	37	12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2981	EGF-like 11. {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)			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)	CGGACGTGTGCTGATGTGGAC	0.652																																						ENST00000243077.3	1.000000	0.800000	1	9.800000e-01	0.990000	0.982270	0.990000	1.000000																										0				184						c.(8941-8943)gCt>gTt		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						81.0	74.0	76.0					12																	57590814		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57590814C>T	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.8942C>T	chr12.hg19:g.57590814C>T	ENSP00000243077:p.Ala2981Val	0					MIR1228_ENST00000408438.1_RNA	p.A2981V	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		56	9408	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.8942C>T	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145484	0.37825	.	.	ENSG00000123384	ENST00000243077	D	0.93189	-3.18	5.34	4.45	0.53987	5.34	4.45	0.53987	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.427349	0.21337	N	0.076199	D	0.82375	0.5023	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75291	-0.3369	10	0.24483	T	0.36	.	7.1939	0.25841	0.0:0.7505:0.0:0.2495	.	2981	Q07954	LRP1_HUMAN	V	2981	ENSP00000243077:A2981V	ENSP00000243077:A2981V	A	+	2	0	0	LRP1	55877081	55877081	0.900000	0.30661	0.607000	0.28956	0.903000	0.53119	3.175000	0.50855	1.489000	0.48450	0.511000	0.50034	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_002332			26	25		235	233	0		1	1		0	0	40	0		9.999999e-01	1	0	18	0	445	0	26	235
LRP1	4035	broad.mit.edu	37	12	57598459	57598459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57598459C>T	ENST00000243077.3	+	72	11587	c.11121C>T	c.(11119-11121)cgC>cgT	p.R3707R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3707	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	AGAATGACCGCGTCTGTCTGT	0.632																																						ENST00000243077.3	1.000000	0.100000	3.000000e-01	1.500000e-01	0.210000	0.269656	0.210000	0.210000																										0				184						c.(11119-11121)cgC>cgT		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						88.0	88.0	88.0					12																	57598459		2203	4300	6503	SO:0001819	synonymous_variant	4035	0	0					g.chr12:57598459C>T	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.11121C>T	chr12.hg19:g.57598459C>T		0						p.R3707R	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		72	11587	+			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	0	1	hg19	c.11121C>T	CCDS8932.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	0	0		2	2	2	0		0	0	126		126	122	1	2.060000	-8.236516	1	0.170000	NM_002332			11	11		630	612	0		1	1		0	0	126	0		9.980506e-01	9.977126e-01	0	3	0	602	0	11	630
LRP1	4035	broad.mit.edu	37	12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4526	Interaction with MAFB. {ECO:0000250}.				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)			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)	CAGCACGGACGAGAAGCGAGA	0.667																																						ENST00000243077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				184						c.(13576-13578)Gag>Aag		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						61.0	58.0	59.0					12																	57606279		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57606279G>A	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.13576G>A	chr12.hg19:g.57606279G>A	ENSP00000243077:p.Glu4526Lys	0						p.E4526K	NM_002332.2	NP_002323.2	1	2	3	2.002308	Q07954	LRP1_HUMAN		89	14042	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.13576G>A	CCDS8932.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403715	0.83230	.	.	ENSG00000123384	ENST00000243077	T	0.51817	0.69	4.66	3.75	0.43078	4.66	3.75	0.43078	.	0.000000	0.53938	D	0.000054	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70695	-0.4801	10	0.66056	D	0.02	.	13.5221	0.61574	0.0:0.1583:0.8417:0.0	.	4526	Q07954	LRP1_HUMAN	K	4526	ENSP00000243077:E4526K	ENSP00000243077:E4526K	E	+	1	0	0	LRP1	55892546	55892546	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.467000	0.80930	1.130000	0.42092	0.491000	0.48974	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_002332			60	59		315	306	1		1	1		0	0	75	0		1	1	0	112	0	1349	0	60	315
SHMT2	6472	broad.mit.edu	37	12	57625629	57625629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000328923.3	+	4	897	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	149					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)			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)	AGCCAACCTGGCCGTCTACAC	0.637																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				15						c.(445-447)Gcc>Acc		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Tetrahydrofolic acid(DB00116)						52.0	48.0	49.0					12																	57625629		2203	4300	6503	SO:0001583	missense	6472	0	0					g.chr12:57625629G>A	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.445G>A	chr12.hg19:g.57625629G>A	ENSP00000333667:p.Ala149Thr	0					SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR	p.A149T	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	1	2	3	2.002308	P34897	GLYM_HUMAN		4	897	+			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	0	0	hg19	c.445G>A	CCDS8934.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.776594|5.776594	0.96929|0.96929	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	1.35;0.87;0.87;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.72|4.72	4.72|4.72	0.59763|0.59763	4.72|4.72	4.72|4.72	0.59763|0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84000|.	0.5376|.	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|.	0.87028|.	0.2133|.	9|.	0.54805|0.59425	T|D	0.06|0.04	-14.0511|-14.0511	16.9817|16.9817	0.86329|0.86329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158;149;149|.	B4DWA7;Q8N1A5;P34897|.	.;.;GLYM_HUMAN|.	T|X	149;149;149;128;128;128;128;128;128;128;128;128;128|43	ENSP00000333667:A149T;ENSP00000452315:A149T;ENSP00000452035:A149T;ENSP00000406881:A128T;ENSP00000450452:A128T;ENSP00000452161:A128T;ENSP00000450893:A128T;ENSP00000452045:A128T;ENSP00000452419:A128T;ENSP00000451968:A128T;ENSP00000452404:A128T;ENSP00000413770:A128T;ENSP00000451495:A128T|.	ENSP00000333667:A149T|ENSP00000377413:W43X	A|W	+|+	1|3	0|0	0|0	SHMT2|SHMT2	55911896|55911896	55911896|55911896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.657000|9.657000	0.98554|0.98554	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCC|TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_005412			30	30		151	146	1		1	1		0	0	34	0		1	1	0	251	0	533	0	30	151
SHMT2	6472	broad.mit.edu	37	12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A	rs199498720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	214					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)			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)	CTGACTGCTCGACTTTTCCGG	0.582																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(640-642)cGa>cAa		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	102.0	101.0	101.0		611,578,578,578,641	5.1	1.0	12		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	SHMT2	NM_001166356.1,NM_001166357.1,NM_001166358.1,NM_001166359.1,NM_005412.5	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	204/495,193/484,193/484,193/484,214/505	57626282	1,13005	2203	4300	6503	SO:0001583	missense	6472	2	121412	39				g.chr12:57626282G>A	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.641G>A	chr12.hg19:g.57626282G>A	ENSP00000333667:p.Arg214Gln	0					SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR	p.R214Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	1	2	3	2.002308	P34897	GLYM_HUMAN		6	1093	+			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	1	1	hg19	c.641G>A	CCDS8934.1	1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442673	0.43326	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	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	5.09	5.09	0.68999	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.237070	0.38837	N	0.001543	T	0.31513	0.0799	L	0.47078	1.49	0.48395	D	0.999647	D;P;P;P;P	0.54772	0.968;0.837;0.862;0.93;0.911	B;B;B;B;B	0.34873	0.144;0.191;0.161;0.087;0.068	T	0.19353	-1.0308	10	0.12103	T	0.63	-4.0994	17.7941	0.88564	0.0:0.0:1.0:0.0	.	223;204;118;145;214	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	214;204;53;193;193;193;193;118	ENSP00000333667:R214Q;ENSP00000452315:R204Q;ENSP00000450930:R53Q;ENSP00000406881:R193Q;ENSP00000452419:R193Q;ENSP00000452404:R193Q;ENSP00000413770:R193Q;ENSP00000377413:R118Q	ENSP00000333667:R214Q	R	+	2	0	0	SHMT2	55912549	55912549	0.984000	0.35163	0.983000	0.44433	0.959000	0.62525	4.199000	0.58426	2.816000	0.96949	0.563000	0.77884	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	0		19	2	2	0		0	1	151		151	150	1	2.060000	-3.164492	1	0.170000	NM_005412			150	148		697	678	1		1	1		0	0	151	0		1	1	0	26	0	295	0	150	697
SHMT2	6472	broad.mit.edu	37	12	57626358	57626358	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000393827.4_Splice_Site_p.E143D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	239					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)			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)	GCATGAGAGAGGTTGGTGGGG	0.667																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(715-717)gaG>gaT		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Tetrahydrofolic acid(DB00116)						58.0	66.0	63.0					12																	57626358		2203	4300	6503	SO:0001630	splice_region_variant	6472	0	0					g.chr12:57626358G>T	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.717+1G>T	chr12.hg19:g.57626358G>T		0					SHMT2_ENST00000393827.4_Splice_Site_p.E143D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D	p.E239D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	1	2	3	2.002308	P34897	GLYM_HUMAN		6	1169	+			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Splice_Site	SNP	ENST00000328923.3	1	0	hg19	c.717G>T	CCDS8934.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.183758|4.183758	0.78677|0.78677	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.50001|.	1.29;0.76;0.76;1.29;1.29;1.29;0.76|.	5.09|5.09	4.2|4.2	0.49525|0.49525	5.09|5.09	4.2|4.2	0.49525|0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.051686|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.66506|0.66506	2.035|2.035	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P;B|.	0.45768|.	0.578;0.293;0.139;0.866;0.259|.	B;B;B;P;B|.	0.48873|.	0.388;0.297;0.12;0.593;0.174|.	T|T	0.70142|0.70142	-0.4953|-0.4953	10|5	0.59425|.	D|.	0.04|.	-0.8048|-0.8048	12.9784|12.9784	0.58549|0.58549	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	248;229;143;170;239|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	D|C	239;229;78;218;218;218;143|39	ENSP00000333667:E239D;ENSP00000452315:E229D;ENSP00000450930:E78D;ENSP00000406881:E218D;ENSP00000452419:E218D;ENSP00000413770:E218D;ENSP00000377413:E143D|.	ENSP00000333667:E239D|.	E|G	+|+	3|1	2|0	2|0	SHMT2|SHMT2	55912625|55912625	55912625|55912625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	8.000000|8.000000	0.88501|0.88501	1.522000|1.522000	0.49001|0.49001	0.563000|0.563000	0.77884|0.77884	GAG|GGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	0		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000	NM_005412	Missense_Mutation		123	119		639	621	1		1	1		0	0	130	0		1	1	0	18	0	242	0	123	639
INHBC	3626	broad.mit.edu	37	12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	328					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562																																						ENST00000309668.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(982-984)Ctc>Ttc		inhibin, beta C							62.0	66.0	65.0					12																	57843728		2203	4300	6503	SO:0001583	missense	3626	0	0					g.chr12:57843728C>T		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.982C>T	chr12.hg19:g.57843728C>T	ENSP00000308716:p.Leu328Phe	0						p.L328F	NM_005538.2	NP_005529.1	1	2	3	2.002308	P55103	INHBC_HUMAN		2	1109	+			A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	1	1	hg19	c.982C>T	CCDS8938.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736685	0.69304	.	.	ENSG00000175189	ENST00000309668	D	0.87029	-2.2	4.27	4.27	0.50696	4.27	4.27	0.50696	Transforming growth factor-beta, C-terminal (3);	0.066311	0.64402	D	0.000011	D	0.94663	0.8279	M	0.91920	3.255	0.50632	D	0.999884	D	0.89917	1.0	D	0.87578	0.998	D	0.95477	0.8557	9	.	.	.	-14.9598	16.6692	0.85261	0.0:1.0:0.0:0.0	.	328	P55103	INHBC_HUMAN	F	328	ENSP00000308716:L328F	.	L	+	1	0	0	INHBC	56129995	56129995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.678000	0.91216	0.655000	0.94253	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_005538			82	78		361	355	1		1	0		0	0	82	0		1	3.512873e-02	0	0	0	2	0	82	361
GLI1	2735	broad.mit.edu	37	12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y|GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	242					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(724-726)tGc>tAc		GLI family zinc finger 1							64.0	64.0	64.0					12																	57859671		2203	4300	6503	SO:0001583	missense	2735	0	0					g.chr12:57859671G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.725G>A	chr12.hg19:g.57859671G>A	ENSP00000228682:p.Cys242Tyr	0					GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	p.C242Y	NM_005269.2	NP_005260.1	1	2	3	2.002308	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)	7	816	+			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	1	1	hg19	c.725G>A	CCDS8940.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589314	0.86851	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.45	4.45	0.53987	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000022	D	0.98639	0.9544	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	16.3848	0.83501	0.0:0.0:1.0:0.0	.	242	P08151	GLI1_HUMAN	Y	114;114;242;201;201;114	ENSP00000436671:C114Y;ENSP00000437607:C114Y;ENSP00000228682:C242Y;ENSP00000441006:C201Y;ENSP00000434408:C201Y	ENSP00000228682:C242Y	C	+	2	0	0	GLI1	56145938	56145938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.478000	0.83669	0.591000	0.81541	TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_005269			70	68		279	274	1		1	1		0	0	74	0		1	9.929861e-01	0	2	0	31	0	70	279
GLI1	2735	broad.mit.edu	37	12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000546141.1_Missense_Mutation_p.R239M|GLI1_ENST00000543426.1_Missense_Mutation_p.R152M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(838-840)aGg>aTg		GLI family zinc finger 1							106.0	100.0	102.0					12																	57860099		2203	4300	6503	SO:0001583	missense	2735	0	0					g.chr12:57860099G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.839G>T	chr12.hg19:g.57860099G>T	ENSP00000228682:p.Arg280Met	0					GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	p.R280M	NM_005269.2	NP_005260.1	1	2	3	2.002308	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)	8	930	+			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	1	1	hg19	c.839G>T	CCDS8940.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;D;D;D;D	0.94092	0.54;-3.35;-3.35;-3.35;-3.35	4.12	4.12	0.48240	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	D	0.95079	0.8406	L	0.49455	1.56	0.54753	D	0.999982	D	0.54397	0.966	D	0.66847	0.947	D	0.95639	0.8696	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	280	P08151	GLI1_HUMAN	M	152;152;280;239;239;152	ENSP00000436671:R152M;ENSP00000437607:R152M;ENSP00000228682:R280M;ENSP00000441006:R239M;ENSP00000434408:R239M	ENSP00000228682:R280M	R	+	2	0	0	GLI1	56146366	56146366	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	2.340000	0.43974	2.295000	0.77249	0.655000	0.94253	AGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1		2	2	2	0		0	0	167		167	161	1	2.060000	-20.000000	1	0.170000	NM_005269			156	155		616	601	1		1	1		0	0	167	0		1	9.959143e-01	0	2	0	33	0	156	616
GLI1	2735	broad.mit.edu	37	12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000546141.1_Missense_Mutation_p.A534V|GLI1_ENST00000543426.1_Missense_Mutation_p.A447V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	575					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1723-1725)gCa>gTa		GLI family zinc finger 1							64.0	60.0	62.0					12																	57864247		2203	4300	6503	SO:0001583	missense	2735	0	0					g.chr12:57864247C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1724C>T	chr12.hg19:g.57864247C>T	ENSP00000228682:p.Ala575Val	0					GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	p.A575V	NM_005269.2	NP_005260.1	1	2	3	2.002308	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)	12	1815	+			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	1	1	hg19	c.1724C>T	CCDS8940.1	1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148306	0.21288	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.14266	2.7;2.52;2.61;2.61	3.86	2.03	0.26663	3.86	2.03	0.26663	.	0.476605	0.17850	N	0.159887	T	0.10208	0.0250	L	0.42245	1.32	0.32065	N	0.595215	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.41790	T	0.15	.	4.1612	0.10284	0.0:0.5937:0.1928:0.2135	.	575	P08151	GLI1_HUMAN	V	447;575;534;534	ENSP00000437607:A447V;ENSP00000228682:A575V;ENSP00000441006:A534V;ENSP00000434408:A534V	ENSP00000228682:A575V	A	+	2	0	0	GLI1	56150514	56150514	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	-0.088000	0.11198	0.596000	0.29794	0.491000	0.48974	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_005269			77	76		406	394	1		1	1		0	0	101	0		1	9.314358e-01	0	2	0	24	0	77	406
GLI1	2735	broad.mit.edu	37	12	57864506	57864506	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000546141.1_Silent_p.G620G|GLI1_ENST00000543426.1_Silent_p.G533G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	661					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1981-1983)ggC>ggA		GLI family zinc finger 1							34.0	35.0	35.0					12																	57864506		2203	4300	6503	SO:0001819	synonymous_variant	2735	0	0					g.chr12:57864506C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1983C>A	chr12.hg19:g.57864506C>A		0					GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	p.G661G	NM_005269.2	NP_005260.1	1	2	3	2.002308	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)	12	2074	+			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	1	1	hg19	c.1983C>A	CCDS8940.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_005269			38	38		147	143	1		1	0		0	0	51	0		1	9.881899e-01	0	0	0	30	0	38	147
ARHGAP9	64333	broad.mit.edu	37	12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000356411.2	-	2	226	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L101F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	30	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592																																						ENST00000356411.2	1.000000	0.820000	1	9.600000e-01	0.990000	0.981491	0.990000	1.000000																										0				30						c.(88-90)Ctc>Ttc		Rho GTPase activating protein 9							58.0	58.0	58.0					12																	57873102		2203	4300	6503	SO:0001583	missense	64333	0	0					g.chr12:57873102G>A	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.88C>T	chr12.hg19:g.57873102G>A	ENSP00000348782:p.Leu30Phe	0					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L101F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F	p.L30F			1	2	3	2.002308	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)	2	226	-			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	1	1	hg19	c.88C>T		1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843155	0.71488	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.79	3.88	0.44766	4.79	3.88	0.44766	Src homology-3 domain (4);	0.110363	0.41823	D	0.000814	T	0.79347	0.4430	M	0.89414	3.03	0.28020	N	0.934572	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.998;0.976;0.986	T	0.72121	-0.4386	10	0.54805	T	0.06	.	9.5783	0.39472	0.1051:0.0:0.8949:0.0	.	30;109;30;30;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	30;30;30;101;79	ENSP00000377380:L30F;ENSP00000348782:L30F;ENSP00000394307:L30F;ENSP00000377386:L101F	ENSP00000344852:L79F	L	-	1	0	0	ARHGAP9	56159369	56159369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.208000	0.58486	2.357000	0.79964	0.655000	0.94253	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	95		95	92	1	2.060000	-2.966611	1	0.170000	NM_032496			44	43		427	417	0		1	0		0	0	95	0		1	3.183296e-01	0	0	0	12	0	44	427
KIF5A	3798	broad.mit.edu	37	12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	606					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)			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						AAGCGGTGCCGGCAGCTGGAG	0.572																																						ENST00000455537.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				62						c.(1816-1818)cGg>cAg		kinesin family member 5A							54.0	46.0	49.0					12																	57968967		2203	4300	6503	SO:0001583	missense	3798	2	121410	29				g.chr12:57968967G>A	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.1817G>A	chr12.hg19:g.57968967G>A	ENSP00000408979:p.Arg606Gln	0					KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	p.R606Q	NM_004984.2	NP_004975.2	1	2	3	2.002308	Q12840	KIF5A_HUMAN		16	2091	+			A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	1	1	hg19	c.1817G>A	CCDS8945.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139318	0.56936	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85861	-2.04;-2.04	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.38838	1.175	0.49299	D	0.999772	B;B	0.22800	0.075;0.033	B;B	0.14578	0.011;0.011	T	0.72666	-0.4224	10	0.15952	T	0.53	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	517;606	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	606;517	ENSP00000408979:R606Q;ENSP00000286452:R517Q	ENSP00000286452:R517Q	R	+	2	0	0	KIF5A	56255234	56255234	0.972000	0.33761	1.000000	0.80357	0.992000	0.81027	1.429000	0.34903	2.504000	0.84457	0.655000	0.94253	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_004984			26	26		104	101	1		1	0		0	0	28	0		1	3.555719e-01	0	1	0	5	0	26	104
KIF5A	3798	broad.mit.edu	37	12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	667					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)			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						CTTGAGCGATGAGCTGGCCAA	0.527																																						ENST00000455537.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1999-2001)Gag>Aag		kinesin family member 5A							160.0	155.0	157.0					12																	57969516		2203	4300	6503	SO:0001583	missense	3798	0	0					g.chr12:57969516G>A	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.1999G>A	chr12.hg19:g.57969516G>A	ENSP00000408979:p.Glu667Lys	0					KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	p.E667K	NM_004984.2	NP_004975.2	1	2	3	2.002308	Q12840	KIF5A_HUMAN		17	2273	+			A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	1	1	hg19	c.1999G>A	CCDS8945.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.416643	0.96092	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84070	-1.8;-1.8	4.37	4.37	0.52481	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.69823	2.125	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58013	0.831;0.831	D	0.88780	0.3270	10	0.48119	T	0.1	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	578;667	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	667;578	ENSP00000408979:E667K;ENSP00000286452:E578K	ENSP00000286452:E578K	E	+	1	0	0	KIF5A	56255783	56255783	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.570000	0.98174	2.440000	0.82611	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	1	0	1		2	2	2	0		0	0	246		246	245	1	2.060000	-20.000000	1	0.170000	NM_004984			192	188		906	892	1		1	1		0	0	246	0		1	4.848100e-01	0	4	0	5	0	192	906
PIP4K2C	79837	broad.mit.edu	37	12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	282	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552																																						ENST00000354947.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(844-846)aGc>aTc		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							234.0	232.0	233.0					12																	57994625		2203	4300	6503	SO:0001583	missense	79837	0	0					g.chr12:57994625G>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.845G>T	chr12.hg19:g.57994625G>T	ENSP00000347032:p.Ser282Ile	0					PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I	p.S282I			1	2	3	2.002308	Q8TBX8	PI42C_HUMAN		8	861	+	Melanoma(17;0.122)		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	1	1	hg19	c.845G>T	CCDS8946.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401154|4.401154	0.83120|0.83120	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	4.47|4.47	4.47|4.47	0.54385|0.54385	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.042667	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	H|H	0.98866|0.98866	4.355|4.355	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	0.95073|0.95073	0.8206|0.8206	5|10	.|0.87932	.|D	.|0	-14.8145|-14.8145	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|234;264;282	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	S|I	90|234;282;264;282	.|ENSP00000412035:S234I;ENSP00000439878:S282I;ENSP00000447390:S264I;ENSP00000347032:S282I	.|ENSP00000347032:S282I	A|S	+|+	1|2	0|0	0|0	PIP4K2C|PIP4K2C	56280892|56280892	56280892|56280892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GCC|AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	0	0	1		18	3	2	1		1	1	336		336	333	1	2.060000	-20.000000	1	0.170000	NM_024779			293	287		1408	1391	1		1	1		1	0	336	0		1	9.999999e-01	0	8	0	114	0	293	1408
B4GALNT1	2583	broad.mit.edu	37	12	58021501	58021501	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58021501G>A	ENST00000341156.4	-	10	1868	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	B4GALNT1_ENST00000418555.2_Silent_p.G373G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	428					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACCACGCAGCCTGGGAAGC	0.687																																						ENST00000341156.4	1.000000	0.350000	1	5.300000e-01	0.750000	0.756687	0.750000	1.000000																										0				20						c.(1282-1284)ggC>ggT		beta-1,4-N-acetyl-galactosaminyl transferase 1							17.0	22.0	20.0					12																	58021501		2193	4293	6486	SO:0001819	synonymous_variant	2583	0	0					g.chr12:58021501G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1284C>T	chr12.hg19:g.58021501G>A		0					B4GALNT1_ENST00000418555.2_Silent_p.G373G	p.G428G	NM_001478.3	NP_001469.1	1	2	3	2.002308	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)	10	1868	-	Melanoma(17;0.122)		B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	0	1	hg19	c.1284C>T	CCDS8950.1	0	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418635	0.25552	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.5	1.5	0.22942	4.5	1.5	0.22942	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41770	-0.9490	4	.	.	.	-12.4085	6.1097	0.20094	0.2443:0.1513:0.6043:0.0	.	.	.	.	V	111	.	.	A	-	2	0	0	B4GALNT1	56307768	56307768	1.000000	0.71417	0.942000	0.38095	0.965000	0.64279	3.843000	0.55865	0.502000	0.28037	0.462000	0.41574	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	0	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-12.257870	1	0.170000	NM_001478			8	8		124	119	0		1	0		0	0	22	0		9.883814e-01	4.975124e-03	0	0	0	2	0	8	124
B4GALNT1	2583	broad.mit.edu	37	12	58022910	58022910	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000341156.4	-	7	1316	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	244					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552																																						ENST00000341156.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				20						c.(730-732)ggA>ggC		beta-1,4-N-acetyl-galactosaminyl transferase 1							73.0	67.0	69.0					12																	58022910		2203	4300	6503	SO:0001819	synonymous_variant	2583	0	0					g.chr12:58022910T>G	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.732A>C	chr12.hg19:g.58022910T>G		0					B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron	p.G244G	NM_001478.3	NP_001469.1	1	2	3	2.002308	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)	7	1316	-	Melanoma(17;0.122)		B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	1	1	hg19	c.732A>C	CCDS8950.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-18.187840	1	0.170000	NM_001478			27	27		109	106	1		1	0		0	0	34	0		1	9.213569e-01	0	1	0	19	0	27	109
AGAP2	116986	broad.mit.edu	37	12	58126674	58126674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58126674C>T	ENST00000547588.1	-	6	1637	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	AGAP2_ENST00000257897.3_Silent_p.E210E	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	546	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)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTGCACAAGTCTCATAGTAGC	0.577																																						ENST00000547588.1	1.000000	0.090000	2.000000e-01	1.200000e-01	0.150000	0.214721	0.150000	0.150000																										0				48						c.(1636-1638)gaG>gaA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							282.0	264.0	270.0					12																	58126674		2203	4300	6503	SO:0001819	synonymous_variant	116986	0	0					g.chr12:58126674C>T	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.1638G>A	chr12.hg19:g.58126674C>T		0					AGAP2_ENST00000257897.3_Silent_p.E210E	p.E546E	NM_001122772.2	NP_001116244.1	1	2	3	2.002308	Q99490	AGAP2_HUMAN		6	1637	-			A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	0	1	hg19	c.1638G>A	CCDS44932.1	0	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112330	0.20795	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	4.01	0.46588	4.9	4.01	0.46588	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62374	-0.6868	4	.	.	.	.	12.5231	0.56072	0.0:0.9176:0.0:0.0824	.	.	.	.	N	410	.	.	D	-	1	0	0	AGAP2	56412941	56412941	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.496000	0.35638	1.444000	0.47605	0.655000	0.94253	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	0	0	1		2	2	2	0		0	0	382		382	378	1	2.060000	-2.489491	0	0.170000	NM_014770			23	22		1739	1710	0		1	0		0	0	382	0		9.999991e-01	3.973082e-02	0	0	0	23	0	23	1739
CDK4	1019	broad.mit.edu	37	12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A	rs587778185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs34386532). {ECO:0000269|PubMed:17344846}.		cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	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)			AGAAACTGGCGCATCAGATCC	0.473			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom		Familial malignant melanoma	yes	Dom		Familial malignant melanoma	12	12q14	12q14	1019	Mis	cyclin-dependent kinase 4				E	E		melanoma			0				21						c.(364-366)Cgc>Tgc		cyclin-dependent kinase 4							83.0	78.0	80.0					12																	58144864		2203	4300	6503	SO:0001583	missense	1019	3	121412	37	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	g.chr12:58144864G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.364C>T	chr12.hg19:g.58144864G>A	ENSP00000257904:p.Arg122Cys	0					CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	p.R122C	NM_000075.3	NP_000066.1	1	2	3	2.002308	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)	4	729	-	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)		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	1	1	hg19	c.364C>T	CCDS8953.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879269	0.51801	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;1.97;1.97	4.76	1.31	0.21738	4.76	1.31	0.21738	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299629	0.31199	N	0.008063	T	0.45094	0.1325	L	0.47078	1.49	0.80722	D	1	D	0.65815	0.995	P	0.52758	0.708	T	0.38929	-0.9638	10	0.66056	D	0.02	.	4.5789	0.12248	0.2204:0.0:0.54:0.2396	.	122	P11802	CDK4_HUMAN	C	122;2;48;48;48;122;122	ENSP00000257904:R122C;ENSP00000439076:R2C;ENSP00000447779:R48C;ENSP00000447274:R48C;ENSP00000449391:R48C;ENSP00000449179:R122C;ENSP00000448963:R122C	ENSP00000257904:R122C	R	-	1	0	0	CDK4	56431131	56431131	0.174000	0.23070	1.000000	0.80357	0.969000	0.65631	0.397000	0.20883	0.541000	0.28827	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-4.253611	1	0.170000	NM_000075			91	88		317	309	1		1	1		0	0	70	0		1	1	0	89	0	322	0	91	317
CDK4	1019	broad.mit.edu	37	12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	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)			TCAAACACCAGGGTTACCTTG	0.532			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom		Familial malignant melanoma	yes	Dom		Familial malignant melanoma	12	12q14	12q14	1019	Mis	cyclin-dependent kinase 4				E	E		melanoma			0				21						c.(271-273)Ctg>Atg		cyclin-dependent kinase 4							182.0	153.0	163.0					12																	58145073		2203	4300	6503	SO:0001583	missense	1019	0	0		Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	g.chr12:58145073G>T	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.271C>A	chr12.hg19:g.58145073G>T	ENSP00000257904:p.Leu91Met	0					CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	p.L91M	NM_000075.3	NP_000066.1	1	2	3	2.002308	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)	3	636	-	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)		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	1	1	hg19	c.271C>A	CCDS8953.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235278	0.58886	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;1.69;1.69;1.69	4.92	3.03	0.35002	4.92	3.03	0.35002	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	0.000011	T	0.56863	0.2014	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57300	-0.7835	10	0.72032	D	0.01	.	3.6756	0.08291	0.2819:0.0:0.5468:0.1713	.	91	P11802	CDK4_HUMAN	M	91;17;17;17;91;91;91	ENSP00000257904:L91M;ENSP00000447779:L17M;ENSP00000447274:L17M;ENSP00000449391:L17M;ENSP00000449179:L91M;ENSP00000448963:L91M;ENSP00000446763:L91M	ENSP00000257904:L91M	L	-	1	2	2	CDK4	56431340	56431340	0.971000	0.33674	1.000000	0.80357	0.982000	0.71751	1.644000	0.37228	0.741000	0.32674	-0.253000	0.11424	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-2.579033	1	0.170000	NM_000075			118	116		525	508	1		1	1		0	0	119	0		1	1	0	118	0	394	0	118	525
MARCH9	92979	broad.mit.edu	37	12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	178					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)			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)			ATCTCCCTGACGGTCATCGAG	0.597																																						ENST00000266643.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(532-534)aCg>aTg		membrane-associated ring finger (C3HC4) 9							91.0	78.0	82.0					12																	58151910		2203	4300	6503	SO:0001583	missense	92979	1	121412	29				g.chr12:58151910C>T	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.533C>T	chr12.hg19:g.58151910C>T	ENSP00000266643:p.Thr178Met	0					MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	p.T178M	NM_138396.5	NP_612405.2	1	2	3	2.002308	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)	3	964	+	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)		B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	1	1	hg19	c.533C>T	CCDS31847.1	1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.60920	0.15;0.15	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.54060	0.733;0.741	T	0.76966	-0.2763	10	0.87932	D	0	.	18.1173	0.89561	0.0:1.0:0.0:0.0	.	65;178	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	M	178;65	ENSP00000266643:T178M;ENSP00000446758:T65M	ENSP00000266643:T178M	T	+	2	0	0	MARCH9	56438177	56438177	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.929000	0.70096	2.810000	0.96702	0.655000	0.94253	ACG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.286772	1	0.170000	NM_138396			55	55		260	251	1		1	1		0	0	77	0		1	9.999935e-01	0	15	0	71	0	55	260
AVIL	10677	broad.mit.edu	37	12	58197168	58197168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58197168C>A	ENST00000257861.3	-	15	2254	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.Q601H	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	608	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATTTCCTGCTGAAGTCTGC	0.438											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257861.3	1.000000	0.250000	4.800000e-01	3.100000e-01	0.380000	0.425847	0.380000	0.370000																										0				32						c.(1822-1824)caG>caT		advillin							161.0	149.0	153.0					12																	58197168		2203	4300	6503	SO:0001583	missense	10677	0	0					g.chr12:58197168C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1824G>T	chr12.hg19:g.58197168C>A	ENSP00000257861:p.Gln608His	0		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.Q601H|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA	p.Q608H	NM_006576.3	NP_006567.3	1	2	3	2.002308	O75366	AVIL_HUMAN		15	2254	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	1	1	hg19	c.1824G>T	CCDS8959.1	0	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.42900	0.96;0.96	5.13	2.9	0.33743	5.13	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.88031	2.925	0.47737	D	0.999508	D;D	0.67145	0.989;0.996	D;D	0.65233	0.914;0.933	T	0.66333	-0.5950	10	0.66056	D	0.02	-12.0731	7.8909	0.29677	0.0:0.6981:0.1633:0.1386	.	601;608	O75366-2;O75366	.;AVIL_HUMAN	H	601;608	ENSP00000443207:Q601H;ENSP00000257861:Q608H	ENSP00000257861:Q608H	Q	-	3	2	2	AVIL	56483435	56483435	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	3.164000	0.50770	1.123000	0.41961	-0.305000	0.09177	CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	0	0	1		2	2	2	0		0	0	156		156	152	1	2.060000	-3.306049	1	0.170000	NM_006576			26	26		795	782	0		1	0		0	0	156	0		9.999999e-01	1.518208e-02	0	0	0	6	0	26	795
AVIL	10677	broad.mit.edu	37	12	58200264	58200264	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	ENST00000257861.3	-	13	1980	c.1550T>C	c.(1549-1551)aTt>aCt	p.I517T	RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.I510T|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'UTR	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	517	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATTTCCATGAATTTGGAAGAG	0.488																																						ENST00000257861.3	1.000000	0.720000	1	8.700000e-01	0.990000	0.954826	0.990000	1.000000																										0				32						c.(1549-1551)aTt>aCt		advillin							145.0	134.0	138.0					12																	58200264		2203	4300	6503	SO:0001583	missense	10677	0	0					g.chr12:58200264A>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1550T>C	chr12.hg19:g.58200264A>G	ENSP00000257861:p.Ile517Thr	0					TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.I510T|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	p.I517T	NM_006576.3	NP_006567.3	1	2	3	2.002308	O75366	AVIL_HUMAN		13	1980	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	1	1	hg19	c.1550T>C	CCDS8959.1	1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559012	0.65538	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.20881	2.04;2.04	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.173912	0.51477	D	0.000093	T	0.28466	0.0704	M	0.62088	1.915	0.54753	D	0.99998	P;P	0.45672	0.523;0.864	B;B	0.43950	0.356;0.437	T	0.06661	-1.0814	10	0.87932	D	0	-18.9385	14.0909	0.64990	1.0:0.0:0.0:0.0	.	510;517	O75366-2;O75366	.;AVIL_HUMAN	T	510;517	ENSP00000443207:I510T;ENSP00000257861:I517T	ENSP00000257861:I517T	I	-	2	0	0	AVIL	56486531	56486531	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.062000	0.93920	2.165000	0.68154	0.459000	0.35465	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_006576			30	29		313	304	0		1	0		0	0	52	0		1	9.633459e-02	0	0	0	6	0	30	313
AVIL	10677	broad.mit.edu	37	12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000257861.3	-	8	1352	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	308	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473																																						ENST00000257861.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(922-924)Gcc>Tcc		advillin							165.0	145.0	152.0					12																	58203397		2203	4300	6503	SO:0001583	missense	10677	0	0					g.chr12:58203397C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.922G>T	chr12.hg19:g.58203397C>A	ENSP00000257861:p.Ala308Ser	0					AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	p.A308S	NM_006576.3	NP_006567.3	1	2	3	2.002308	O75366	AVIL_HUMAN		8	1352	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	1	1	hg19	c.922G>T	CCDS8959.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045982	0.93685	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	4.75	4.75	0.60458	Gelsolin domain (1);	0.104999	0.64402	D	0.000005	T	0.71745	0.3376	M	0.74467	2.265	0.80722	D	1	P;P	0.50819	0.939;0.903	P;P	0.55999	0.721;0.789	T	0.75941	-0.3140	10	0.72032	D	0.01	-13.5395	17.0043	0.86388	0.0:1.0:0.0:0.0	.	301;308	O75366-2;O75366	.;AVIL_HUMAN	S	301;308	ENSP00000443207:A301S;ENSP00000257861:A308S	ENSP00000257861:A308S	A	-	1	0	0	AVIL	56489664	56489664	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.512000	0.81728	2.619000	0.88677	0.655000	0.94253	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_006576			80	79		308	305	1		1	0		0	0	81	0		1	2.789865e-01	0	0	0	5	0	80	308
CTDSP2	10106	broad.mit.edu	37	12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	34					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517																																						ENST00000398073.2	1.000000	0.830000	1	9.600000e-01	0.990000	0.982250	0.990000	1.000000																										0				7						c.(100-102)gGa>gAa		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							108.0	108.0	108.0					12																	58223343		1990	4171	6161	SO:0001583	missense	10106	0	0					g.chr12:58223343C>T	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.101G>A	chr12.hg19:g.58223343C>T	ENSP00000381148:p.Gly34Glu	0					CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E|CTDSP2_ENST00000547701.1_5'UTR	p.G34E	NM_005730.3	NP_005721.3	1	2	3	2.002308	O14595	CTDS2_HUMAN		2	404	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	1	1	hg19	c.101G>A	CCDS41801.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567575	0.86439	.	.	ENSG00000175215	ENST00000398073;ENST00000548823	T;T	0.21932	2.38;1.98	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.049788	0.85682	D	0.000000	T	0.31888	0.0811	L	0.34521	1.04	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.01	T	0.01858	-1.1259	10	0.07482	T	0.82	-16.9848	16.8584	0.86011	0.0:1.0:0.0:0.0	.	34;34	F8W1I1;O14595	.;CTDS2_HUMAN	E	34	ENSP00000381148:G34E;ENSP00000447046:G34E	ENSP00000381148:G34E	G	-	2	0	0	CTDSP2	56509610	56509610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.984000	0.63838	2.592000	0.87571	0.655000	0.94253	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.221883	1	0.170000	NM_005730			48	48		468	460	0		1	1		0	0	92	0		1	9.999955e-01	0	8	0	168	0	48	468
XRCC6BP1	91419	broad.mit.edu	37	12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	61					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617																																						ENST00000300145.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(181-183)Gag>Aag		XRCC6 binding protein 1							32.0	36.0	35.0					12																	58335665		1939	4144	6083	SO:0001583	missense	91419	0	0					g.chr12:58335665G>A	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.181G>A	chr12.hg19:g.58335665G>A	ENSP00000300145:p.Glu61Lys	0						p.E61K	NM_033276.2	NP_150592.1	1	2	3	2.002308	Q9Y6H3	ATP23_HUMAN		1	306	+			Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	1	1	hg19	c.181G>A	CCDS41802.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138802	0.56936	.	.	ENSG00000166896	ENST00000300145	T	0.41758	0.99	4.84	-0.808	0.10868	4.84	-0.808	0.10868	Metallopeptidase, catalytic domain (1);	0.745417	0.13537	N	0.380492	T	0.19287	0.0463	N	0.11064	0.09	0.32488	N	0.54066	B	0.16603	0.018	B	0.18871	0.023	T	0.43294	-0.9400	10	0.02654	T	1	.	12.3052	0.54898	0.0685:0.5094:0.4221:0.0	.	61	Q9Y6H3	ATP23_HUMAN	K	61	ENSP00000300145:E61K	ENSP00000300145:E61K	E	+	1	0	0	XRCC6BP1	56621932	56621932	0.998000	0.40836	0.129000	0.21949	0.864000	0.49448	1.468000	0.35332	-0.253000	0.09514	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.376822	1	0.170000	NM_033276			30	30		122	119	1		1	1		0	0	29	0		1	7.580516e-01	0	3	0	10	0	30	122
LRIG3	121227	broad.mit.edu	37	12	59277343	59277343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			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)			CATTGCCTTGTAAAGACATGA	0.383			T	ROS1	NSCLC																																	ENST00000320743.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000				Dom	yes			Dom	yes		12	12q14.1	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3				E	E	ROS1		NSCLC	LRIG3/ROS1(2)	0				48						c.(1273-1275)ttA>ttG		leucine-rich repeats and immunoglobulin-like domains 3							123.0	117.0	119.0					12																	59277343		2203	4300	6503	SO:0001819	synonymous_variant	121227	0	0					g.chr12:59277343T>C	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.1275A>G	chr12.hg19:g.59277343T>C		0					LRIG3_ENST00000379141.4_Silent_p.L365L	p.L425L	NM_153377.4	NP_700356.2	1	2	3	2.002308	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)	11	1561	-			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	1	1	hg19	c.1275A>G	CCDS8960.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-20.000000	1	0.170000	NM_153377			47	47		268	263	1		1	1		0	0	59	0		1	9.999334e-01	0	14	0	70	0	47	268
LRIG3	121227	broad.mit.edu	37	12	59283900	59283900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	179					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			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)			CCATTGATGTGACTCGGTTGC	0.413			T	ROS1	NSCLC																																	ENST00000320743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q14.1	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3				E	E	ROS1		NSCLC	LRIG3/ROS1(2)	0				48						c.(535-537)gtC>gtT		leucine-rich repeats and immunoglobulin-like domains 3							219.0	211.0	214.0					12																	59283900		2203	4300	6503	SO:0001819	synonymous_variant	121227	0	0					g.chr12:59283900G>A	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.537C>T	chr12.hg19:g.59283900G>A		0					LRIG3_ENST00000379141.4_Silent_p.V119V	p.V179V	NM_153377.4	NP_700356.2	1	2	3	2.002308	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)	5	823	-			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	1	1	hg19	c.537C>T	CCDS8960.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1		2	2	2	0		0	0	164		164	161	1	2.060000	-20.000000	1	0.170000	NM_153377			190	183		787	761	1		1	1		0	0	164	0		1	9.999999e-01	0	24	0	67	0	190	787
LRIG3	121227	broad.mit.edu	37	12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	152					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			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)			TTGCTGCTAAGGTCCAAAGTT	0.383			T	ROS1	NSCLC																																	ENST00000320743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q14.1	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3				E	E	ROS1		NSCLC	LRIG3/ROS1(2)	0				48						c.(454-456)Ctt>Ttt		leucine-rich repeats and immunoglobulin-like domains 3							91.0	91.0	91.0					12																	59284508		2203	4300	6503	SO:0001583	missense	121227	0	0					g.chr12:59284508G>A	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.454C>T	chr12.hg19:g.59284508G>A	ENSP00000326759:p.Leu152Phe	0					LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	p.L152F	NM_153377.4	NP_700356.2	1	2	3	2.002308	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)	4	740	-			Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	1	1	hg19	c.454C>T	CCDS8960.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678552	0.68042	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.30448	1.53;1.53;1.53	5.87	2.87	0.33458	5.87	2.87	0.33458	.	0.000000	0.30085	N	0.010459	T	0.59348	0.2187	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61535	-0.7043	9	.	.	.	.	8.8768	0.35350	0.4056:0.0:0.5944:0.0	.	92;152	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	92;152;59	ENSP00000368436:L92F;ENSP00000326759:L152F;ENSP00000449109:L59F	.	L	-	1	0	0	LRIG3	57570775	57570775	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.359000	0.44142	0.388000	0.25054	-0.302000	0.09304	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_153377			46	45		160	158	1		1	1		0	0	58	0		1	1	0	31	0	71	0	46	160
SLC16A7	9194	broad.mit.edu	37	12	60169243	60169243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	389					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413																																						ENST00000261187.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				30						c.(1165-1167)ggC>ggT		solute carrier family 16 (monocarboxylate transporter), member 7	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)						77.0	71.0	73.0					12																	60169243		2203	4300	6503	SO:0001819	synonymous_variant	9194	0	0					g.chr12:60169243C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1167C>T	chr12.hg19:g.60169243C>T		0					SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000552024.1_Silent_p.G389G	p.G389G	NM_004731.4	NP_004722.2	1	2	3	2.002308	O60669	MOT2_HUMAN		4	1331	+			Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	1	1	hg19	c.1167C>T	CCDS8961.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.970710	1	0.170000	NM_004731			48	48		304	296	1		1	0		0	0	60	0		1	5.071077e-01	0	0	0	12	0	48	304
USP15	9958	broad.mit.edu	37	12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	89	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(265-267)tAc>tGc		ubiquitin specific peptidase 15							138.0	133.0	135.0					12																	62696619		2203	4300	6503	SO:0001583	missense	9958	0	0					g.chr12:62696619A>G	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.266A>G	chr12.hg19:g.62696619A>G	ENSP00000280377:p.Tyr89Cys	0					USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C	p.Y89C	NM_001252078.1	NP_001239007.1	1	2	3	2.002308	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	3	324	+			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	1	1	hg19	c.266A>G	CCDS58251.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.651365|4.651365	0.88056|0.88056	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	.|T;T;T	.|0.32272	.|1.47;1.6;1.46	5.72|5.72	5.72|5.72	0.89469|0.89469	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.|0.062437	.|0.64402	.|D	.|0.000003	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;1.0	T|T	0.71656|0.71656	-0.4527|-0.4527	5|9	.|.	.|.	.|.	-8.6905|-8.6905	15.9922|15.9922	0.80214|0.80214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|89;89;89;89;89	.|B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|.;.;UBP15_HUMAN;.;.	A|C	85|89;89;89;89;89;35	.|ENSP00000258123:Y89C;ENSP00000280377:Y89C;ENSP00000377264:Y89C	.|.	T|Y	+|+	1|2	0|0	0|0	USP15|USP15	60982886|60982886	60982886|60982886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.284000|9.284000	0.95882|0.95882	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	ACA|TAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_006313			93	92		395	391	1		1	1		0	0	80	0		1	9.999754e-01	0	17	0	50	0	93	395
USP15	9958	broad.mit.edu	37	12	62775384	62775384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	343	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)			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)		AATCTTATGCCGAACTGATCA	0.403																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1027-1029)gcC>gcT		ubiquitin specific peptidase 15							168.0	146.0	154.0					12																	62775384		2203	4300	6503	SO:0001819	synonymous_variant	9958	0	0					g.chr12:62775384C>T	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.1029C>T	chr12.hg19:g.62775384C>T		0					USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	p.A343A	NM_001252078.1	NP_001239007.1	1	2	3	2.002308	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	9	1087	+			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	1	1	hg19	c.1029C>T	CCDS58251.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-2.923430	1	0.170000	NM_006313			68	67		282	280	1		1	1		0	0	106	0		1	1	0	21	0	100	0	68	282
USP15	9958	broad.mit.edu	37	12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	403	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)			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)		TAGGAAAAAACCATATATACA	0.338																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1207-1209)Cca>Tca		ubiquitin specific peptidase 15							74.0	75.0	75.0					12																	62777738		2203	4299	6502	SO:0001583	missense	9958	0	0					g.chr12:62777738C>T	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.1207C>T	chr12.hg19:g.62777738C>T	ENSP00000280377:p.Pro403Ser	0					USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	p.P403S	NM_001252078.1	NP_001239007.1	1	2	3	2.002308	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	10	1265	+			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	1	1	hg19	c.1207C>T	CCDS58251.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270563	0.80469	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.29655	4.18;4.18;1.56	5.4	4.51	0.55191	5.4	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055071	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.57081	-0.7872	9	.	.	.	-8.9265	15.6864	0.77415	0.1379:0.8621:0.0:0.0	.	403;374	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	374;403;378	ENSP00000258123:P374S;ENSP00000280377:P403S;ENSP00000377264:P378S	.	P	+	1	0	0	USP15	61064005	61064005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.493000	0.48517	0.655000	0.94253	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_006313			50	48		267	255	1		1	1		0	0	49	0		1	9.999507e-01	0	18	0	63	0	50	267
MON2	23041	broad.mit.edu	37	12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000393632.2	+	1	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					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)			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)		TTCCCACCTGTCAAAGAGGTA	0.542																																						ENST00000393632.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(103-105)gTc>gGc		MON2 homolog (S. cerevisiae)							64.0	65.0	65.0					12																	62861091		2203	4300	6503	SO:0001583	missense	23041	0	0					g.chr12:62861091T>G		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.104T>G	chr12.hg19:g.62861091T>G	ENSP00000377252:p.Val35Gly	0					MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000552738.1_Missense_Mutation_p.V35G	p.V35G	NM_015026.2	NP_055841.2	1	2	3	2.002308	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	1	495	+			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	1	1	hg19	c.104T>G	CCDS31849.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.103451	0.94245	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66815	-0.23;-0.22;-0.23;-0.23;-0.22;-0.23;-0.2	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76575	0.961;0.983;0.983;0.988	T	0.81688	-0.0819	9	.	.	.	-9.4158	14.8857	0.70567	0.0:0.0:0.0:1.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	35	ENSP00000377252:V35G;ENSP00000377250:V35G;ENSP00000280379:V35G;ENSP00000447407:V35G;ENSP00000449215:V35G;ENSP00000377249:V35G;ENSP00000446635:V35G	.	V	+	2	0	0	MON2	61147358	61147358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	GTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_015026			78	78		326	321	1		1	1		0	0	76	0		1	9.895212e-01	0	11	0	21	0	78	326
PPM1H	57460	broad.mit.edu	37	12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			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)		GGTAAAGAAGCGTGTGGGGGG	0.642																																						ENST00000228705.6	1.000000	0.630000	1	7.700000e-01	0.930000	0.901782	0.930000	1.000000																										0				18						c.(682-684)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1H							29.0	32.0	31.0					12																	63195669		1894	4092	5986	SO:0001583	missense	57460	0	0					g.chr12:63195669C>T	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.683G>A	chr12.hg19:g.63195669C>T	ENSP00000228705:p.Arg228His	0						p.R228H	NM_020700.1	NP_065751.1	1	2	3	2.002308	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	3	983	-			B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	1	1	hg19	c.683G>A	CCDS44934.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295048	0.81025	.	.	ENSG00000111110	ENST00000228705	T	0.25579	1.79	4.36	4.36	0.52297	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.51220	-0.8733	9	.	.	.	4.0024	17.2574	0.87061	0.0:1.0:0.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	H	228	ENSP00000228705:R228H	.	R	-	2	0	0	PPM1H	61481936	61481936	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.050000	0.76620	2.124000	0.65301	0.462000	0.41574	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.221884	1	0.170000	NM_020700			29	28		345	340	0		1	1		0	0	48	0		1	1.031552e-01	0	2	0	5	0	29	345
AVPR1A	552	broad.mit.edu	37	12	63544452	63544452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	55					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)			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)	CCAGCACGGCGATCTCCAGTT	0.697																																						ENST00000299178.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(163-165)atC>atT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)						44.0	38.0	40.0					12																	63544452		2191	4273	6464	SO:0001819	synonymous_variant	552	0	0					g.chr12:63544452G>A	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.165C>T	chr12.hg19:g.63544452G>A		0						p.I55I	NM_000706.4	NP_000697.1	1	2	3	2.002308	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	1	270	-				Silent	SNP	ENST00000299178.2	1	1	hg19	c.165C>T	CCDS8965.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.383573	1	0.170000				58	57		273	273	1		1	0		0	0	66	0		1	0	0	0	0	1	0	58	273
DPY19L2	283417	broad.mit.edu	37	12	64038261	64038261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	ENST00000324472.4	-	6	908	c.725C>T	c.(724-726)gCt>gTt	p.A242V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	242					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)			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)		ATAAAAGCAAGCAGGATCTCC	0.343																																						ENST00000324472.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				45						c.(724-726)gCt>gTt		dpy-19-like 2 (C. elegans)							21.0	22.0	22.0					12																	64038261		2194	4272	6466	SO:0001583	missense	283417	0	0					g.chr12:64038261G>A		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.725C>T	chr12.hg19:g.64038261G>A	ENSP00000315988:p.Ala242Val	0					RP11-415I12.3_ENST00000509615.2_RNA	p.A242V	NM_173812.4	NP_776173.3	1	2	3	2.002308	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	6	908	-			A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	0	1	hg19	c.725C>T	CCDS31851.1	1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750837	0.31046	.	.	ENSG00000177990	ENST00000324472	T	0.53206	0.63	2.36	2.36	0.29203	2.36	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.40067	0.1102	L	0.47078	1.49	0.80722	D	1	P	0.37370	0.592	B	0.41174	0.349	T	0.16719	-1.0393	9	.	.	.	.	8.2359	0.31625	0.0:0.0:1.0:0.0	.	242	Q6NUT2	D19L2_HUMAN	V	242	ENSP00000315988:A242V	.	A	-	2	0	0	DPY19L2	62324528	62324528	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.025000	0.70864	1.318000	0.45170	0.194000	0.17425	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	0	0	1		2	2	2	0		0	0	49		49	68	1	2.060000	-20.000000	1	0.170000	NM_173812			27	20		147	105	0		1	0		0	0	49	0		9.999986e-01	6.941102e-02	0	0	0	3	0	27	147
SRGAP1	57522	broad.mit.edu	37	12	64456834	64456834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.S313S|SRGAP1_ENST00000543397.1_Silent_p.S273S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	313	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)			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)		AGCCCAGGAGCGATAAGCAGA	0.443																																						ENST00000355086.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(937-939)agC>agT		SLIT-ROBO Rho GTPase activating protein 1							138.0	126.0	130.0					12																	64456834		2203	4300	6503	SO:0001819	synonymous_variant	57522	2	121412	33				g.chr12:64456834C>T	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.939C>T	chr12.hg19:g.64456834C>T		0					SRGAP1_ENST00000357825.3_Silent_p.S313S|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S	p.S313S	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	7	1463	+			Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	1	1	hg19	c.939C>T	CCDS8967.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000				71	70		305	299	0		1	1		0	0	77	0		1	9.532450e-01	0	6	0	18	0	71	305
SRGAP1	57522	broad.mit.edu	37	12	64474125	64474125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	ENST00000355086.3	+	10	1907	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	461	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)			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)		CCAAACATGACTTGCTGCAGA	0.358																																						ENST00000355086.3	1.000000	0.210000	6.600000e-01	3.100000e-01	0.450000	0.498198	0.450000	0.410000																										0				65						c.(1381-1383)gaC>gaA		SLIT-ROBO Rho GTPase activating protein 1							68.0	64.0	65.0					12																	64474125		2203	4300	6503	SO:0001583	missense	57522	0	0					g.chr12:64474125C>A	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.1383C>A	chr12.hg19:g.64474125C>A	ENSP00000347198:p.Asp461Glu	0					SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	p.D461E	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	10	1907	+			Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	1	1	hg19	c.1383C>A	CCDS8967.1	0	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822365	0.50739	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	3.12;2.79;2.2	4.32	3.44	0.39384	4.32	3.44	0.39384	.	0.000000	0.36815	U	0.002397	T	0.20292	0.0488	N	0.17764	0.52	0.54753	D	0.999988	P;B;B	0.47545	0.897;0.168;0.429	P;B;B	0.54924	0.764;0.192;0.263	T	0.02464	-1.1155	9	.	.	.	.	8.0206	0.30406	0.0:0.7507:0.0:0.2493	.	461;421;461	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	E	461;461;421	ENSP00000347198:D461E;ENSP00000350480:D461E;ENSP00000437948:D421E	.	D	+	3	2	2	SRGAP1	62760392	62760392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.348000	0.33987	1.421000	0.47157	0.555000	0.69702	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-9.851454	1	0.170000				8	8		215	206	0		1	0		0	0	40	0		9.878736e-01	1.647557e-01	0	0	0	18	0	8	215
SRGAP1	57522	broad.mit.edu	37	12	64485152	64485152	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	511	F-BAR domain.|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)			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)		TGGAAACATTCGTCAAGGTAC	0.478																																						ENST00000355086.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				65						c.(1531-1533)ttC>ttT		SLIT-ROBO Rho GTPase activating protein 1							80.0	82.0	81.0					12																	64485152		2203	4300	6503	SO:0001819	synonymous_variant	57522	0	0					g.chr12:64485152C>T	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.1533C>T	chr12.hg19:g.64485152C>T		0					SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron	p.F511F	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	12	2057	+			Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	1	1	hg19	c.1533C>T	CCDS8967.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-19.928480	1	0.170000				38	38		190	185	1		1	0		0	0	63	0		1	2.031829e-01	0	1	0	4	0	38	190
SRGAP1	57522	broad.mit.edu	37	12	64521459	64521459	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64521459A>G	ENST00000355086.3	+	20	3019	c.2495A>G	c.(2494-2496)gAc>gGc	p.D832G	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	832					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)			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)		TCATCCAAGGACATGAACTCC	0.557																																						ENST00000355086.3	1.000000	0.140000	5.400000e-01	2.200000e-01	0.350000	0.401889	0.350000	0.310000																										0				65						c.(2494-2496)gAc>gGc		SLIT-ROBO Rho GTPase activating protein 1							84.0	69.0	74.0					12																	64521459		2203	4300	6503	SO:0001583	missense	57522	0	0					g.chr12:64521459A>G	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.2495A>G	chr12.hg19:g.64521459A>G	ENSP00000347198:p.Asp832Gly	0					SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	p.D832G	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	20	3019	+			Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	0	1	hg19	c.2495A>G	CCDS8967.1	0	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307441	0.40795	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19105	3.19;2.75;2.17	5.46	5.46	0.80206	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.36815	U	0.002397	T	0.14356	0.0347	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.12837	0.002;0.008	T	0.10451	-1.0629	9	.	.	.	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	832;769	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	G	832;809;769	ENSP00000347198:D832G;ENSP00000350480:D809G;ENSP00000437948:D769G	.	D	+	2	0	0	SRGAP1	62807726	62807726	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.167000	0.77562	2.198000	0.70561	0.528000	0.53228	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-7.703348	1	0.170000				6	5		217	211	0		1	0		0	0	38	0		9.620060e-01	2.190979e-01	0	0	0	28	0	6	217
SRGAP1	57522	broad.mit.edu	37	12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1009					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)			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)		CACGGAATCTCTCAGCCCTTT	0.547																																						ENST00000355086.3	1.000000	0.220000	5.800000e-01	3.000000e-01	0.410000	0.461484	0.410000	0.390000																										0				65						c.(3025-3027)Ctc>Atc		SLIT-ROBO Rho GTPase activating protein 1							132.0	100.0	111.0					12																	64536219		2203	4300	6503	SO:0001583	missense	57522	0	0					g.chr12:64536219C>A	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.3025C>A	chr12.hg19:g.64536219C>A	ENSP00000347198:p.Leu1009Ile	0					SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	p.L1009I	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	22	3549	+			Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	1	1	hg19	c.3025C>A	CCDS8967.1	0	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130120	0.37630	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34072	1.38;1.38;1.38	6.04	4.22	0.49857	6.04	4.22	0.49857	.	0.269262	0.18965	U	0.126300	T	0.29817	0.0745	L	0.50333	1.59	0.47407	D	0.999413	P;B	0.37330	0.59;0.321	B;B	0.34590	0.186;0.086	T	0.03259	-1.1055	9	.	.	.	.	8.9068	0.35528	0.0:0.7426:0.1247:0.1326	.	1009;946	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	1009;986;946	ENSP00000347198:L1009I;ENSP00000350480:L986I;ENSP00000437948:L946I	.	L	+	1	0	0	SRGAP1	62822486	62822486	0.974000	0.33945	0.925000	0.36789	0.009000	0.06853	2.468000	0.45102	0.883000	0.36040	-0.302000	0.09304	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0		2	2	2	0		0	0	77		77	74	1	2.060000	-12.248510	1	0.170000				12	11		344	327	0		1	0		0	0	77	0		9.988422e-01	2.048820e-01	0	0	0	23	0	12	344
SRGAP1	57522	broad.mit.edu	37	12	64536230	64536230	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1012					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)			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)		TCAGCCCTTTGCACAACGTTG	0.552																																						ENST00000355086.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3034-3036)ttG>ttA		SLIT-ROBO Rho GTPase activating protein 1							134.0	102.0	113.0					12																	64536230		2203	4300	6503	SO:0001819	synonymous_variant	57522	0	0					g.chr12:64536230G>A	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.3036G>A	chr12.hg19:g.64536230G>A		0					SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	p.L1012L	NM_020762.2	NP_065813.1	1	2	3	2.002308	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	22	3560	+			Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	1	1	hg19	c.3036G>A	CCDS8967.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	0		2	2	2	0		0	0	78		78	75	1	2.060000	-20.000000	1	0.170000				63	57		296	287	0		1	1		0	0	78	0		1	9.441626e-01	0	7	0	18	0	63	296
C12orf56	115749	broad.mit.edu	37	12	64664489	64664489	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	530										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)		TGGCCACAAAAGTAATCTAGA	0.438																																						ENST00000543942.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1588-1590)acT>acC		chromosome 12 open reading frame 56							72.0	67.0	69.0					12																	64664489		1890	4129	6019	SO:0001819	synonymous_variant	115749	0	0					g.chr12:64664489A>G		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.1590T>C	chr12.hg19:g.64664489A>G		0					C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA	p.T530T	NM_001170633.1	NP_001164104.1	1	2	3	2.002308	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	12	2216	-				Silent	SNP	ENST00000543942.2	1	1	hg19	c.1590T>C		1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_001099676			40	39		160	152	1		1	1		0	0	64	0		1	6.765259e-01	0	6	0	5	0	40	160
XPOT	11260	broad.mit.edu	37	12	64818836	64818836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	442					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373																																						ENST00000332707.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1324-1326)cgG>cgA		exportin, tRNA							100.0	100.0	100.0					12																	64818836		2203	4300	6503	SO:0001819	synonymous_variant	11260	0	0					g.chr12:64818836G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1326G>A	chr12.hg19:g.64818836G>A		0						p.R442R	NM_007235.4	NP_009166.2	1	2	3	2.002308	O43592	XPOT_HUMAN		13	1855	+			A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	1	1	hg19	c.1326G>A	CCDS31852.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_007235			89	89		397	388	1		1	1		0	0	100	0		1	1	0	68	0	215	0	89	397
XPOT	11260	broad.mit.edu	37	12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383																																						ENST00000332707.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2884-2886)cCc>cAc		exportin, tRNA							136.0	129.0	132.0					12																	64841907		2203	4300	6503	SO:0001583	missense	11260	0	0					g.chr12:64841907C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2885C>A	chr12.hg19:g.64841907C>A	ENSP00000327821:p.Pro962His	0						p.P962H	NM_007235.4	NP_009166.2	1	2	3	2.002308	O43592	XPOT_HUMAN		25	3414	+			A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	1	1	hg19	c.2885C>A	CCDS31852.1	1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886625	0.72410	.	.	ENSG00000184575	ENST00000332707	T	0.26067	1.76	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.107943	0.64402	D	0.000003	T	0.31071	0.0785	N	0.08118	0	0.47698	D	0.999495	D	0.63046	0.992	D	0.72338	0.977	T	0.20706	-1.0267	9	.	.	.	.	17.806	0.88601	0.0:1.0:0.0:0.0	.	962	O43592	XPOT_HUMAN	H	962	ENSP00000327821:P962H	.	P	+	2	0	0	XPOT	63128174	63128174	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.484000	0.60271	2.820000	0.97059	0.650000	0.86243	CCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.175980	1	0.170000	NM_007235			71	70		344	338	1		1	1		0	0	82	0		1	1	0	100	0	272	0	71	344
TBK1	29110	broad.mit.edu	37	12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T	rs185524052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					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)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368													C|||	3	0.000599042	0.0	0.0	5008	,	,		14975	0.003		0.0	False		,,,				2504	0.0					ENST00000331710.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2170-2172)Cgc>Tgc		TANK-binding kinase 1							170.0	165.0	167.0					12																	64895141		2203	4300	6503	SO:0001583	missense	29110	11	121412	44				g.chr12:64895141C>T	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.2170C>T	chr12.hg19:g.64895141C>T	ENSP00000329967:p.Arg724Cys	0						p.R724C	NM_013254.3	NP_037386.1	1	2	3	2.002308	Q9UHD2	TBK1_HUMAN		21	2509	+			A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	1	1	hg19	c.2170C>T	CCDS8968.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	19.42	3.823372	0.71143	.	.	ENSG00000183735	ENST00000331710	T	0.70986	-0.53	5.72	4.77	0.60923	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.08118	0	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.64736	-0.6337	9	.	.	.	-4.5344	14.5605	0.68133	0.2533:0.7467:0.0:0.0	.	724	Q9UHD2	TBK1_HUMAN	C	724	ENSP00000329967:R724C	.	R	+	1	0	0	TBK1	63181408	63181408	0.259000	0.24043	1.000000	0.80357	0.979000	0.70002	0.370000	0.20433	2.873000	0.98535	0.563000	0.77884	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-3.334016	1	0.170000	NM_013254			96	94		471	458	1		1	1		0	0	128	0		1	9.999999e-01	0	31	0	84	0	96	471
WIF1	11197	broad.mit.edu	37	12	65461485	65461485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	208	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		12	12q14.3	12q14.3	11197	T	WNT inhibitory factor 1				E	E	HMGA2		pleomorphic salivary gland adenoma		0				21						c.(622-624)caC>caT		WNT inhibitory factor 1							101.0	86.0	91.0					12																	65461485		2203	4300	6503	SO:0001819	synonymous_variant	11197	1	121374	26				g.chr12:65461485G>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.624C>T	chr12.hg19:g.65461485G>A		0						p.H208H	NM_007191.4	NP_009122.2	1	2	3	2.002308	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	5	998	-			Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	1	1	hg19	c.624C>T	CCDS8971.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				34	34		152	150	1		1			0	0	46	0		1	0	0	0	0	0	0	34	152
WIF1	11197	broad.mit.edu	37	12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		12	12q14.3	12q14.3	11197	T	WNT inhibitory factor 1				E	E	HMGA2		pleomorphic salivary gland adenoma		0				21						c.(502-504)Cct>Act		WNT inhibitory factor 1							194.0	179.0	184.0					12																	65462580		2203	4300	6503	SO:0001583	missense	11197	0	0					g.chr12:65462580G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.502C>A	chr12.hg19:g.65462580G>T	ENSP00000286574:p.Pro168Thr	0						p.P168T	NM_007191.4	NP_009122.2	1	2	3	2.002308	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	4	876	-			Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	1	1	hg19	c.502C>A	CCDS8971.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888886	0.72524	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	T	168;106	ENSP00000286574:P168T;ENSP00000442063:P106T	.	P	-	1	0	0	WIF1	63748847	63748847	1.000000	0.71417	0.970000	0.41538	0.560000	0.35617	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000				74	75		367	352	1		1			0	0	81	0		1	0	0	0	0	0	0	74	367
LEMD3	23592	broad.mit.edu	37	12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					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)			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)		TTTTGGTGTCGTTTTCGACGT	0.353																																						ENST00000308330.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1867-1869)cGt>cAt		LEM domain containing 3							202.0	175.0	184.0					12																	65632541		2203	4300	6503	SO:0001583	missense	23592	2	121406	32				g.chr12:65632541G>A	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.1868G>A	chr12.hg19:g.65632541G>A	ENSP00000308369:p.Arg623His	0						p.R623H	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	1	2	3	2.002308	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	6	1894	+			Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	1	1	hg19	c.1868G>A	CCDS8972.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	0	LEMD3	63918808	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				58	54		266	262	1		1	1		0	0	62	0		1	9.998799e-01	0	18	0	46	0	58	266
MSRB3	253827	broad.mit.edu	37	12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000355192.3	+	6	578	c.452G>A	c.(451-453)cGt>cAt	p.R151H	MSRB3_ENST00000308259.5_Missense_Mutation_p.R144H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	151					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522																																						ENST00000355192.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(451-453)cGt>cAt		methionine sulfoxide reductase B3							165.0	149.0	154.0					12																	65856975		2203	4300	6503	SO:0001583	missense	253827	8	121412	43				g.chr12:65856975G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.452G>A	chr12.hg19:g.65856975G>A	ENSP00000347324:p.Arg151His	0					MSRB3_ENST00000308259.5_Missense_Mutation_p.R144H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	p.R151H	NM_198080.3	NP_932346.1	1	2	3	2.002308	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	6	578	+			B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	1	1	hg19	c.452G>A	CCDS8973.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.370903	0.95923	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.76	5.76	0.90799	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.222920	0.44285	D	0.000472	D	0.86159	0.5866	M	0.62088	1.915	0.54753	D	0.999985	D;D	0.64830	0.994;0.975	D;P	0.63283	0.913;0.766	D	0.84050	0.0369	9	.	.	.	-6.5414	20.3325	0.98724	0.0:0.0:1.0:0.0	.	151;144	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	H	151;144;144;144	ENSP00000347324:R151H;ENSP00000312274:R144H;ENSP00000441650:R144H;ENSP00000445843:R144H	.	R	+	2	0	0	MSRB3	64143242	64143242	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.890000	0.99128	0.655000	0.94253	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_198080			126	125		580	573	1		1	1		0	0	105	0		1	1	0	5	0	110	0	126	580
TMBIM4	51643	broad.mit.edu	37	12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000358230.3	-	2	259	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	47					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308																																						ENST00000358230.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(139-141)Ctc>Ttc		transmembrane BAX inhibitor motif containing 4							80.0	76.0	77.0					12																	66547187		1820	4062	5882	SO:0001583	missense	51643	0	0					g.chr12:66547187G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.139C>T	chr12.hg19:g.66547187G>A	ENSP00000350965:p.Leu47Phe	0					TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F	p.L47F	NM_016056.2	NP_057140.2	1	2	3	2.002308	Q9HC24	LFG4_HUMAN		2	259	-			Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	1	1	hg19	c.139C>T	CCDS41805.1	1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302088	0.40694	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.54279	0.72;0.72;0.72;0.72;0.58	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.064425	0.64402	D	0.000009	T	0.54727	0.1876	L	0.61387	1.9	0.52099	D	0.999947	P;B;P;B;B	0.35844	0.524;0.185;0.524;0.087;0.179	B;B;B;B;B	0.42112	0.376;0.14;0.376;0.063;0.33	T	0.53034	-0.8495	9	.	.	.	-14.5531	12.2315	0.54490	0.0821:0.0:0.9179:0.0	.	47;94;47;16;47	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	47;47;47;94;47;47;93;16	ENSP00000451688:L47F;ENSP00000350965:L47F;ENSP00000286424:L94F;ENSP00000381114:L47F;ENSP00000441291:L16F	.	L	-	1	0	0	TMBIM4	64833454	64833454	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	2.312000	0.43726	2.548000	0.85928	0.655000	0.94253	CTC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-19.996630	1	0.170000	NM_016056			44	41		232	226	1		1	1		0	0	63	0		1	1	0	154	0	479	0	44	232
HELB	92797	broad.mit.edu	37	12	66700219	66700219	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	234					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)			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)		GGATCATAGGGTCAGGTTCTA	0.363																																						ENST00000247815.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(700-702)ggG>ggT		helicase (DNA) B							116.0	120.0	118.0					12																	66700219		2203	4300	6503	SO:0001819	synonymous_variant	92797	0	0					g.chr12:66700219G>T	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.702G>T	chr12.hg19:g.66700219G>T		0						p.G234G	NM_033647.3	NP_387467.2	1	2	3	2.002308	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	3	761	+			A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	1	1	hg19	c.702G>T	CCDS8976.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000				68	68		407	401	1		1	0		0	0	94	0		1	3.258204e-01	0	0	0	8	0	68	407
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					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)			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)		ATGGGCAAGAACTATTCACAC	0.343																																						ENST00000247815.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2653-2655)Act>Gct		helicase (DNA) B							97.0	98.0	98.0					12																	66718889		2203	4300	6503	SO:0001583	missense	92797	0	0					g.chr12:66718889A>G	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.2653A>G	chr12.hg19:g.66718889A>G	ENSP00000247815:p.Thr885Ala	0						p.T885A	NM_033647.3	NP_387467.2	1	2	3	2.002308	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	11	2712	+			A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	1	1	hg19	c.2653A>G	CCDS8976.1	1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631428	0.46944	.	.	ENSG00000127311	ENST00000247815	T	0.32023	1.47	5.42	4.21	0.49690	5.42	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94101	3.495	0.41065	D	0.985403	P	0.38978	0.652	B	0.39706	0.307	T	0.60110	-0.7327	9	.	.	.	-24.8586	12.2805	0.54760	0.8733:0.0:0.0:0.1267	.	885	Q8NG08	HELB_HUMAN	A	885	ENSP00000247815:T885A	.	T	+	1	0	0	HELB	65005156	65005156	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.295000	0.78780	2.190000	0.69967	0.496000	0.49642	ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				58	56		292	289	1		1	0		0	0	67	0		1	1.342358e-01	0	1	0	3	0	58	292
GRIP1	23426	broad.mit.edu	37	12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000398016.3	-	2	147	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T|GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			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)		GTCTGGCTGGCGGATTTAGTG	0.443																																						ENST00000398016.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(79-81)Gcc>Acc		glutamate receptor interacting protein 1							104.0	107.0	106.0					12																	66990684		1895	4124	6019	SO:0001583	missense	23426	2	120818	33				g.chr12:66990684C>T	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.79G>A	chr12.hg19:g.66990684C>T	ENSP00000381098:p.Ala27Thr	0					GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T|GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T	p.A27T	NM_021150.3	NP_066973.2	1	2	3	2.002308	Q96DT0	LEG12_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	2	147	-			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	1	1	hg19	c.79G>A	CCDS41807.1	1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467165	0.43839	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.48	5.83	3.91	0.45181	5.83	3.91	0.45181	.	0.135447	0.48767	N	0.000168	T	0.09069	0.0224	N	0.08118	0	0.30312	N	0.788396	B;B	0.13594	0.007;0.008	B;B	0.14578	0.011;0.011	T	0.17471	-1.0368	9	.	.	.	-14.9658	6.7807	0.23643	0.174:0.7379:0.0:0.088	.	27;27	F5H4N6;Q9Y3R0-3	.;.	T	27;27;27;27;53	ENSP00000381098:A27T;ENSP00000352780:A27T;ENSP00000286445:A27T;ENSP00000446047:A27T;ENSP00000438921:A53T	.	A	-	1	0	0	GRIP1	65276951	65276951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.682000	0.37628	1.466000	0.48025	-0.145000	0.13849	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2	0	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-2.052248	0	0.170000				78	78		343	335	1		1	0		0	0	65	0		1	3.507214e-02	0	1	0	1	0	78	343
CAND1	55832	broad.mit.edu	37	12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	121					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433																																						ENST00000545606.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(361-363)tCc>tTc		cullin-associated and neddylation-dissociated 1							121.0	120.0	120.0					12																	67686551		2203	4300	6503	SO:0001583	missense	55832	0	0					g.chr12:67686551C>T		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.362C>T	chr12.hg19:g.67686551C>T	ENSP00000442318:p.Ser121Phe	0						p.S121F	NM_018448.3	NP_060918.2	1	2	3	2.002308	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	3	799	+			B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	1	1	hg19	c.362C>T	CCDS8977.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047431	0.93740	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.08634	3.07	4.9	4.9	0.64082	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	T	0.01993	-1.1233	9	.	.	.	-5.5697	18.1081	0.89526	0.0:1.0:0.0:0.0	.	121	Q86VP6	CAND1_HUMAN	F	121	ENSP00000442318:S121F	.	S	+	2	0	0	CAND1	65972818	65972818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.260000	0.74910	0.655000	0.94253	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_018448			112	111		522	510	1		1	1		0	0	90	0		1	1	0	35	0	137	0	112	522
CAND1	55832	broad.mit.edu	37	12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	762					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433																																						ENST00000545606.1	1.000000	0.580000	9.700000e-01	6.900000e-01	0.810000	0.820137	0.810000	1.000000																										0				35						c.(2284-2286)Ctg>Atg		cullin-associated and neddylation-dissociated 1							111.0	111.0	111.0					12																	67699732		2203	4300	6503	SO:0001583	missense	55832	0	0					g.chr12:67699732C>A		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.2284C>A	chr12.hg19:g.67699732C>A	ENSP00000442318:p.Leu762Met	0						p.L762M	NM_018448.3	NP_060918.2	1	2	3	2.002308	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	10	2721	+			B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	1	1	hg19	c.2284C>A	CCDS8977.1	0	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116458	0.37339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74106	-0.81;-0.81	5.48	2.15	0.27550	5.48	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.069116	0.64402	D	0.000019	D	0.85274	0.5659	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	D	0.85583	0.1241	9	.	.	.	-5.4556	11.446	0.50123	0.0:0.7072:0.0:0.2928	.	594;762	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	M	762;762;302	ENSP00000442318:L762M;ENSP00000444089:L302M	.	L	+	1	2	2	CAND1	65985999	65985999	0.951000	0.32395	0.998000	0.56505	0.989000	0.77384	0.608000	0.24223	0.653000	0.30826	0.650000	0.86243	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-3.318793	1	0.170000	NM_018448			41	40		565	555	1		1	1		0	0	153	0		1	9.999934e-01	0	26	0	217	0	41	565
IL26	55801	broad.mit.edu	37	12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	25					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473																																						ENST00000229134.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(73-75)cAa>cGa		interleukin 26							281.0	244.0	256.0					12																	68619463		2203	4300	6503	SO:0001583	missense	55801	0	0					g.chr12:68619463T>C	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.74A>G	chr12.hg19:g.68619463T>C	ENSP00000229134:p.Gln25Arg	0					IFNG-AS1_ENST00000536914.1_RNA	p.Q25R	NM_018402.1	NP_060872.1	1	2	3	2.002308	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	1	138	-				Missense_Mutation	SNP	ENST00000229134.4	1	1	hg19	c.74A>G	CCDS8981.1	1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395487	0.11638	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	-3.12	0.05282	4.54	-3.12	0.05282	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.841659	0.10253	N	0.696898	T	0.45518	0.1346	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29305	-1.0016	9	.	.	.	.	8.342	0.32249	0.0:0.0805:0.5146:0.4049	.	25	Q9NPH9	IL26_HUMAN	R	25	ENSP00000229134:Q25R	.	Q	-	2	0	0	IL26	66905730	66905730	0.005000	0.15991	0.006000	0.13384	0.481000	0.33189	0.399000	0.20916	-0.619000	0.05648	0.379000	0.24179	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000	NM_018402			152	150		630	619	1		1			0	0	155	0		1	0	0	0	0	0	0	152	630
MDM1	56890	broad.mit.edu	37	12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000303145.7	-	10	1608	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	508					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403																																						ENST00000303145.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1522-1524)Gaa>Aaa		Mdm1 nuclear protein homolog (mouse)							70.0	76.0	74.0					12																	68707511		2203	4300	6503	SO:0001583	missense	56890	0	0					g.chr12:68707511C>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1522G>A	chr12.hg19:g.68707511C>T	ENSP00000302537:p.Glu508Lys	0					MDM1_ENST00000540418.1_Missense_Mutation_p.E228K|MDM1_ENST00000411698.2_Missense_Mutation_p.E473K	p.E508K	NM_017440.4	NP_059136.2	1	2	3	2.002308	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	10	1608	-			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	1	1	hg19	c.1522G>A	CCDS8983.1	1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131855	0.37630	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24723	1.84;1.84;1.84	4.98	4.09	0.47781	4.98	4.09	0.47781	.	0.558347	0.17014	N	0.190395	T	0.20941	0.0504	L	0.34521	1.04	0.80722	D	1	B;B	0.27679	0.152;0.185	B;B	0.29785	0.107;0.093	T	0.03555	-1.1025	9	.	.	.	-6.0315	12.8595	0.57906	0.0:0.9204:0.0:0.0796	.	473;508	E7EPQ3;Q8TC05	.;MDM1_HUMAN	K	228;508;473	ENSP00000443815:E228K;ENSP00000302537:E508K;ENSP00000391006:E473K	.	E	-	1	0	0	MDM1	66993778	66993778	0.019000	0.18553	0.931000	0.37212	0.638000	0.38207	0.861000	0.27885	1.238000	0.43771	0.484000	0.47621	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.916044	1	0.170000	NM_020128			68	64		250	246	1		1	1		0	0	58	0		1	9.736461e-01	0	4	0	20	0	68	250
RAP1B	5908	broad.mit.edu	37	12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	163					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373																																						ENST00000250559.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(487-489)Cgg>Tgg		RAP1B, member of RAS oncogene family							104.0	107.0	106.0					12																	69050899		2203	4300	6503	SO:0001583	missense	5908	2	121412	36				g.chr12:69050899C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.487C>T	chr12.hg19:g.69050899C>T	ENSP00000250559:p.Arg163Trp	0					RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W	p.R163W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	1	2	3	2.002308	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	7	718	+	Breast(13;1.24e-05)		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	1	1	hg19	c.487C>T	CCDS8984.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666603	0.47677	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-1.27;-1.27;-0.65;-0.65;-0.65;-0.65;-0.66	5.58	3.72	0.42706	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.98446	4.235	0.80722	D	1	B;D;B;B	0.60160	0.27;0.987;0.215;0.215	B;P;B;B	0.48571	0.014;0.582;0.085;0.069	D	0.91507	0.5224	9	.	.	.	.	11.7183	0.51666	0.1255:0.8074:0.0:0.0671	.	116;121;144;163	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	W	163;163;163;163;121;112;97;97;144;97;121;116;115	ENSP00000250559:R163W;ENSP00000377085:R163W;ENSP00000441275:R163W;ENSP00000439966:R163W;ENSP00000399986:R121W;ENSP00000444467:R112W;ENSP00000445090:R97W;ENSP00000368270:R97W;ENSP00000446318:R144W;ENSP00000443775:R97W;ENSP00000444830:R121W;ENSP00000440014:R116W;ENSP00000440708:R115W	.	R	+	1	2	2	RAP1B	67337166	67337166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.222000	0.32515	1.507000	0.48752	0.644000	0.83932	CGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	1	0	1		2	2	2	0		0	0	100		100	112	1	2.060000	-20.000000	1	0.170000	NM_001010942			114	113		461	457	1		1	1		0	0	100	0		1	1	0	86	0	231	0	114	461
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					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)		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)			GAGAATATTCGAAAGAAAGAT	0.353																																						ENST00000229179.4	1.000000	0.620000	1	7.600000e-01	0.920000	0.896214	0.920000	1.000000																									NUP107/LGR5(2)	0				39						c.(1930-1932)cGa>cAa		nucleoporin 107kDa							63.0	66.0	65.0					12																	69125432		2203	4300	6503	SO:0001583	missense	57122	1	121412	35				g.chr12:69125432G>A	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.1931G>A	chr12.hg19:g.69125432G>A	ENSP00000229179:p.Arg644Gln	0					NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	p.R644Q	NM_020401.2	NP_065134.1	1	2	3	2.002308	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	22	2263	+	Breast(13;6.25e-06)		B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	1	1	hg19	c.1931G>A	CCDS8985.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	0	NUP107	67411699	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-8.424205	1	0.170000	NM_020401			27	27		324	314	1		1	1		0	0	64	0		9.999999e-01	9.925751e-01	0	11	0	84	0	27	324
MDM2	4193	broad.mit.edu	37	12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000350057.5	+	6	560	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MDM2_ENST00000428863.2_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393412.3_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	212	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000350057.5	1.000000	0.820000	1	9.300000e-01	0.990000	0.977449	0.990000	1.000000				Dom	yes			Dom	yes		12	12q15	12q15	4193	A	Mdm2 p53 binding protein homolog				"""M, O, E, L"""	M, O, E, L			sarcoma, glioma, colorectal, other		0				19						c.(559-561)aGc>aTc		MDM2 proto-oncogene, E3 ubiquitin protein ligase							185.0	173.0	177.0					12																	69222680		1920	4128	6048	SO:0001583	missense	4193	0	0					g.chr12:69222680G>T		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.560G>T	chr12.hg19:g.69222680G>T	ENSP00000266624:p.Ser187Ile	0					MDM2_ENST00000360430.2_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron	p.S187I			1	2	3	2.002308	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)	6	560	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	1	1	hg19	c.560G>T		1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792010	0.50102	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.53857	1.27;0.68;0.68;0.6;1.28	4.74	3.85	0.44370	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.078405	0.85682	D	0.000000	T	0.65270	0.2675	M	0.61703	1.905	0.80722	D	1	P;P;P;D	0.55800	0.953;0.808;0.953;0.973	P;B;P;P	0.61533	0.89;0.261;0.89;0.89	T	0.65869	-0.6063	9	.	.	.	-0.0638	13.6451	0.62277	0.0763:0.0:0.9237:0.0	.	167;212;163;218	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	I	218;167;157;212;173;163;212;212;187	ENSP00000417281:S218I;ENSP00000258149:S157I;ENSP00000258148:S163I;ENSP00000444430:S212I;ENSP00000266624:S187I	.	S	+	2	0	0	MDM2	67508947	67508947	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.027000	0.64109	1.330000	0.45394	-0.373000	0.07131	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-16.147450	1	0.170000	NM_006880			60	59		610	596	0		1	1		0	0	138	0		1	9.997999e-01	0	10	0	116	0	60	610
CPSF6	11052	broad.mit.edu	37	12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	448					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363																																						ENST00000435070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1342-1344)cTg>cCg		cleavage and polyadenylation specific factor 6, 68kDa							135.0	135.0	135.0					12																	69653851		2203	4300	6503	SO:0001583	missense	11052	0	0					g.chr12:69653851T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1343T>C	chr12.hg19:g.69653851T>C	ENSP00000391774:p.Leu448Pro	0					CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000551516.1_Intron	p.L448P	NM_007007.2	NP_008938.2	1	2	3	2.002308	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)	8	1453	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	1	1	hg19	c.1343T>C	CCDS8988.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482956	0.84747	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.993	D	0.93227	0.6614	9	.	.	.	-2.7417	16.3141	0.82909	0.0:0.0:0.0:1.0	.	196;485;448	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	P	448;375;485	ENSP00000391774:L448P;ENSP00000391437:L375P;ENSP00000266679:L485P	.	L	+	2	0	0	CPSF6	67940118	67940118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_007007			64	63		345	343	1		1	1		0	0	61	0		1	1	0	86	0	205	0	64	345
CCT2	10576	broad.mit.edu	37	12	69987317	69987317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000299300.6	+	10	1094	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CCT2_ENST00000544368.2_Silent_p.Q302Q|CCT2_ENST00000543146.2_Silent_p.Q255Q	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	302					'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)			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)			ATCCTGAACAGCTCTTTGGTG	0.358																																						ENST00000299300.6	1.000000	0.340000	7.400000e-01	4.400000e-01	0.560000	0.599346	0.560000	0.540000																										0				24						c.(904-906)caG>caA		chaperonin containing TCP1, subunit 2 (beta)							107.0	101.0	103.0					12																	69987317		2203	4300	6503	SO:0001819	synonymous_variant	10576	0	0					g.chr12:69987317G>A	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.906G>A	chr12.hg19:g.69987317G>A		0					CCT2_ENST00000543146.2_Silent_p.Q255Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	p.Q302Q	NM_006431.2	NP_006422.1	1	2	3	2.002308	P78371	TCPB_HUMAN	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)	10	1094	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	1	1	hg19	c.906G>A	CCDS8991.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-4.740677	1	0.170000	NM_006431			17	16		349	344	0		1	1		0	0	53	0		9.999628e-01	9.999921e-01	0	34	0	395	0	17	349
CCT2	10576	broad.mit.edu	37	12	69990949	69990949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69990949C>T	ENST00000299300.6	+	11	1184	c.996C>T	c.(994-996)gcC>gcT	p.A332A	CCT2_ENST00000544368.2_Silent_p.A332A|CCT2_ENST00000543146.2_Silent_p.A285A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	332					'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)			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)			GTGAAATTGCCTCTACCTTTG	0.373																																						ENST00000299300.6	1.000000	0.240000	5.400000e-01	3.100000e-01	0.400000	0.451130	0.400000	0.390000																										0				24						c.(994-996)gcC>gcT		chaperonin containing TCP1, subunit 2 (beta)							165.0	156.0	159.0					12																	69990949		2203	4300	6503	SO:0001819	synonymous_variant	10576	0	0					g.chr12:69990949C>T	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.996C>T	chr12.hg19:g.69990949C>T		0					CCT2_ENST00000543146.2_Silent_p.A285A|CCT2_ENST00000544368.2_Silent_p.A332A	p.A332A	NM_006431.2	NP_006422.1	1	2	3	2.002308	P78371	TCPB_HUMAN	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)	11	1184	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	0	1	hg19	c.996C>T	CCDS8991.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	0		2	2	2	0		0	0	80		80	78	1	2.060000	-3.879856	1	0.170000	NM_006431			17	17		492	487	0		1	1		0	0	80	0		9.999632e-01	9.999578e-01	0	24	0	472	0	17	492
CCT2	10576	broad.mit.edu	37	12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000299300.6	+	11	1275	c.1087T>G	c.(1087-1089)Tct>Gct	p.S363A	CCT2_ENST00000544368.2_Missense_Mutation_p.S363A|CCT2_ENST00000543146.2_Missense_Mutation_p.S316A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	363					'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)			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)			CATTCACTTTTCTGGGGTTGC	0.408																																						ENST00000299300.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1087-1089)Tct>Gct		chaperonin containing TCP1, subunit 2 (beta)							250.0	226.0	234.0					12																	69991040		2203	4300	6503	SO:0001583	missense	10576	0	0					g.chr12:69991040T>G	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.1087T>G	chr12.hg19:g.69991040T>G	ENSP00000299300:p.Ser363Ala	0					CCT2_ENST00000543146.2_Missense_Mutation_p.S316A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	p.S363A	NM_006431.2	NP_006422.1	1	2	3	2.002308	P78371	TCPB_HUMAN	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)	11	1275	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	1	1	hg19	c.1087T>G	CCDS8991.1	1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964249	0.92791	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67865	-0.29;-0.29;-0.29	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.154543	0.64402	D	0.000012	D	0.85062	0.5611	M	0.93898	3.47	0.58432	D	0.999999	P;P	0.43094	0.799;0.69	P;P	0.57776	0.827;0.786	D	0.87706	0.2563	9	.	.	.	-28.6863	15.3771	0.74615	0.0:0.0:0.0:1.0	.	363;363	F5GWF6;P78371	.;TCPB_HUMAN	A	363;363;316	ENSP00000299300:S363A;ENSP00000441847:S363A;ENSP00000445471:S316A	.	S	+	1	0	0	CCT2	68277307	68277307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.692000	0.84203	2.367000	0.80283	0.528000	0.53228	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	0		2	2	2	0		0	0	181		181	178	1	2.060000	-20.000000	1	0.170000	NM_006431			146	144		684	669	1		1	1		0	0	181	0		1	1	0	166	0	372	0	146	684
CCT2	10576	broad.mit.edu	37	12	69991508	69991508	+	Missense_Mutation	SNP	C	C	T	rs201201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991508C>T	ENST00000299300.6	+	12	1381	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	CCT2_ENST00000544368.2_Missense_Mutation_p.A398V|CCT2_ENST00000543146.2_Missense_Mutation_p.A351V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	398					'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)			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)			TGTGTTCTTGCGCAAACTGTA	0.333																																						ENST00000299300.6	1.000000	0.160000	4.800000e-01	2.400000e-01	0.330000	0.385347	0.330000	0.310000																										0				24						c.(1192-1194)gCg>gTg		chaperonin containing TCP1, subunit 2 (beta)		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	88.0	89.0		1052,1193	5.9	1.0	12		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCT2	NM_001198842.1,NM_006431.2	64,64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	351/489,398/536	69991508	3,13003	2203	4300	6503	SO:0001583	missense	10576	29	121410	46				g.chr12:69991508C>T	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.1193C>T	chr12.hg19:g.69991508C>T	ENSP00000299300:p.Ala398Val	0					CCT2_ENST00000543146.2_Missense_Mutation_p.A351V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	p.A398V	NM_006431.2	NP_006422.1	1	2	3	2.002308	P78371	TCPB_HUMAN	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)	12	1381	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	0	1	hg19	c.1193C>T	CCDS8991.1	0	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957341	0.53400	2.27E-4	2.33E-4	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.79141	-1.24;-1.24;-1.24	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	L	0.38175	1.15	0.80722	D	1	B;B	0.34103	0.437;0.26	B;B	0.16722	0.015;0.016	T	0.65071	-0.6257	9	.	.	.	-33.0295	20.2985	0.98592	0.0:1.0:0.0:0.0	.	398;398	F5GWF6;P78371	.;TCPB_HUMAN	V	398;398;351	ENSP00000299300:A398V;ENSP00000441847:A398V;ENSP00000445471:A351V	.	A	+	2	0	0	CCT2	68277775	68277775	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.010413	1	0.170000	NM_006431			10	8		363	357	0		1	1		0	0	59	0		9.966238e-01	9.997088e-01	0	14	0	547	0	10	363
BEST3	144453	broad.mit.edu	37	12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	499					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547																																						ENST00000330891.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998911	0.990000	1.000000																										0				12						c.(1495-1497)Ctg>Atg		bestrophin 3							132.0	132.0	132.0					12																	70049199		2076	4208	6284	SO:0001583	missense	144453	0	0					g.chr12:70049199G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1495C>A	chr12.hg19:g.70049199G>T	ENSP00000332413:p.Leu499Met	0					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M	p.L499M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	1	2	3	2.002308	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)	10	1721	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	1	1	hg19	c.1495C>A	CCDS8992.2	1	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153276	0.06585	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97906	-4.25;-4.6;-4.56	5.5	4.59	0.56863	5.5	4.59	0.56863	.	0.763157	0.12006	N	0.508283	D	0.92714	0.7684	N	0.08118	0	0.19575	N	0.999961	B;B	0.14438	0.01;0.0	B;B	0.04013	0.001;0.001	D	0.86400	0.1741	10	0.46703	T	0.11	-2.0894	10.0521	0.42221	0.0:0.1495:0.6955:0.155	.	499;286	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	286;499;393	ENSP00000433213:L286M;ENSP00000332413:L499M;ENSP00000449548:L393M	ENSP00000332413:L499M	L	-	1	2	2	BEST3	68335466	68335466	0.014000	0.17966	0.021000	0.16686	0.017000	0.09413	1.913000	0.39956	1.267000	0.44247	0.563000	0.77884	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-19.999990	1	0.170000	NM_152439			82	82		707	692	1		1			0	0	136	0		1	0	0	0	0	0	0	82	707
BEST3	144453	broad.mit.edu	37	12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	432					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597																																						ENST00000330891.5	1.000000	0.790000	1	9.200000e-01	0.990000	0.972612	0.990000	1.000000																										0				12						c.(1294-1296)Gcc>Tcc		bestrophin 3							94.0	99.0	98.0					12																	70049400		2014	4188	6202	SO:0001583	missense	144453	0	0					g.chr12:70049400C>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1294G>T	chr12.hg19:g.70049400C>A	ENSP00000332413:p.Ala432Ser	0					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S	p.A432S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	1	2	3	2.002308	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)	10	1520	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	1	1	hg19	c.1294G>T	CCDS8992.2	1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338624	0.05243	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.19;-4.55;-4.51	5.63	-4.84	0.03151	5.63	-4.84	0.03151	.	0.900902	0.09621	N	0.777552	D	0.93996	0.8077	L	0.41236	1.265	0.18873	N	0.999989	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.82104	-0.0622	10	0.10902	T	0.67	-4.3232	14.9908	0.71387	0.0:0.22:0.0:0.78	.	432;219	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	219;432;326	ENSP00000433213:A219S;ENSP00000332413:A432S;ENSP00000449548:A326S	ENSP00000332413:A432S	A	-	1	0	0	BEST3	68335667	68335667	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	-1.100000	0.03339	-0.816000	0.04340	-0.140000	0.14226	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.221883	1	0.170000	NM_152439			42	40		423	407	0		1			0	0	93	0		1	0	0	0	0	0	0	42	423
RAB3IP	117177	broad.mit.edu	37	12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000247833.7	+	2	539	c.163G>A	c.(163-165)Gca>Aca	p.A55T	RAB3IP_ENST00000550536.1_Missense_Mutation_p.A71T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein											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)			ACCTATCCAGGCAAATGCATT	0.443																																						ENST00000247833.7	1.000000	0.130000	4.100000e-01	1.900000e-01	0.280000	0.334145	0.280000	0.260000																										0				22						c.(163-165)Gca>Aca		RAB3A interacting protein							168.0	152.0	157.0					12																	70149351		2203	4300	6503	SO:0001583	missense	117177	0	0					g.chr12:70149351G>A		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.163G>A	chr12.hg19:g.70149351G>A	ENSP00000247833:p.Ala55Thr	0					RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000550536.1_Missense_Mutation_p.A71T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000325555.9_5'UTR	p.A55T			1	2	3	2.002308			Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)	2	539	+	Esophageal squamous(21;0.187)			Missense_Mutation	SNP	ENST00000247833.7	0	1	hg19	c.163G>A	CCDS8995.1	0	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759935	0.69763	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.47869	0.84;0.83	5.93	5.0	0.66597	5.93	5.0	0.66597	.	0.258959	0.44688	D	0.000438	T	0.36496	0.0969	N	0.24115	0.695	0.80722	D	1	P;P;P;P	0.38504	0.634;0.546;0.493;0.634	B;B;B;B	0.39258	0.295;0.133;0.295;0.295	T	0.11348	-1.0591	10	0.30854	T	0.27	.	15.3984	0.74816	0.0:0.2576:0.7424:0.0	.	71;71;55;55	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	T	55;55;55;55;71;71	ENSP00000247833:A55T;ENSP00000447300:A71T	ENSP00000247833:A55T	A	+	1	0	0	RAB3IP	68435618	68435618	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.265000	0.43311	2.814000	0.96858	0.655000	0.94253	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	0	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-3.031828	1	0.170000	NM_022456			9	9		395	387	1		1	1		0	0	72	0		9.937966e-01	6.171844e-01	0	9	0	79	0	9	395
RAB3IP	117177	broad.mit.edu	37	12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000247833.7	+	2	557	c.181T>C	c.(181-183)Tct>Cct	p.S61P	RAB3IP_ENST00000550536.1_Missense_Mutation_p.S77P|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein											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)			ATTAGATGTTTCTGAACTTCC	0.418																																						ENST00000247833.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(181-183)Tct>Cct		RAB3A interacting protein							157.0	143.0	148.0					12																	70149369		2203	4300	6503	SO:0001583	missense	117177	0	0					g.chr12:70149369T>C		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.181T>C	chr12.hg19:g.70149369T>C	ENSP00000247833:p.Ser61Pro	0					RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S77P|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000325555.9_5'UTR	p.S61P			1	2	3	2.002308			Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)	2	557	+	Esophageal squamous(21;0.187)			Missense_Mutation	SNP	ENST00000247833.7	1	1	hg19	c.181T>C	CCDS8995.1	1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897894	0.72639	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.49139	0.8;0.79	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.104008	0.64402	D	0.000003	T	0.40247	0.1109	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.53151	0.958;0.895;0.958;0.958	B;B;B;B	0.44044	0.439;0.422;0.277;0.439	T	0.39251	-0.9623	10	0.66056	D	0.02	.	12.843	0.57813	0.0:0.0:0.1359:0.8641	.	77;77;61;61	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	P	61;61;61;61;77;77	ENSP00000247833:S61P;ENSP00000447300:S77P	ENSP00000247833:S61P	S	+	1	0	0	RAB3IP	68435636	68435636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.271000	0.75665	0.533000	0.62120	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_022456			72	72		320	311	1		1	1		0	0	62	0		1	9.999942e-01	0	37	0	43	0	72	320
RAB3IP	117177	broad.mit.edu	37	12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000247833.7	+	9	1563	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D412G|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G					RAB3A interacting protein											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)			AAATTAGGGGACTCAAGCAAC	0.328																																						ENST00000247833.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1186-1188)gAc>gGc		RAB3A interacting protein							90.0	95.0	93.0					12																	70206614		2203	4300	6503	SO:0001583	missense	117177	0	0					g.chr12:70206614A>G		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.1187A>G	chr12.hg19:g.70206614A>G	ENSP00000247833:p.Asp396Gly	0					RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D412G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G	p.D396G			1	2	3	2.002308			Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)	9	1563	+	Esophageal squamous(21;0.187)			Missense_Mutation	SNP	ENST00000247833.7	1	1	hg19	c.1187A>G	CCDS8995.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.664593|4.664593	0.88251|0.88251	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000526994	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|5	0.51188|.	T|.	0.08|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412|.	Q96QF0|.	RAB3I_HUMAN|.	G|A	396;190;412;190;190;103|128	ENSP00000247833:D396G;ENSP00000323349:D190G;ENSP00000447300:D412G;ENSP00000448773:D190G;ENSP00000448027:D190G;ENSP00000448102:D103G|.	ENSP00000447336:D37G|.	D|T	+|+	2|1	0|0	0|0	RAB3IP|RAB3IP	68492881|68492881	68492881|68492881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	GAC|ACT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_022456			74	73		318	315	1		1	1		0	0	63	0		1	9.999615e-01	0	3	0	63	0	74	318
CNOT2	4848	broad.mit.edu	37	12	70731292	70731292	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000418359.3	+	10	1350	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000229195.3_Splice_Site_p.S300Y|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	300					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328																																						ENST00000418359.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.996577	0.990000	1.000000																										0				20						c.(898-900)tCt>tAt		CCR4-NOT transcription complex, subunit 2							95.0	93.0	94.0					12																	70731292		2203	4300	6503	SO:0001630	splice_region_variant	4848	0	0					g.chr12:70731292C>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.900+1C>A	chr12.hg19:g.70731292C>A		0					CNOT2_ENST00000229195.3_Splice_Site_p.S300Y|CNOT2_ENST00000551483.1_5'UTR	p.S300Y	NM_001199302.1	NP_001186231.1	1	2	3	2.002308	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)	10	1350	+	Renal(347;0.236)		Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Splice_Site	SNP	ENST00000418359.3	1	0	hg19	c.899C>A	CCDS31857.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779111	0.70107	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.094664	0.85682	D	0.000000	T	0.69620	0.3131	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.944;0.898	P;B	0.44811	0.461;0.252	T	0.68522	-0.5386	10	0.39692	T	0.17	-7.0559	20.3501	0.98811	0.0:1.0:0.0:0.0	.	300;300	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	Y	300;300;300;163;239;291;300;110	ENSP00000450318:S300Y;ENSP00000229195:S300Y;ENSP00000412091:S300Y;ENSP00000448490:S163Y;ENSP00000447497:S239Y;ENSP00000449659:S291Y;ENSP00000449260:S300Y;ENSP00000448499:S110Y	ENSP00000229195:S300Y	S	+	2	0	0	CNOT2	69017559	69017559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.807000	0.96579	0.650000	0.86243	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-14.366410	1	0.170000		Missense_Mutation		36	35		291	285	1		1	1		0	0	61	0		1	9.999929e-01	0	10	0	138	0	36	291
KCNMB4	27345	broad.mit.edu	37	12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	76					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)			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)	GGCGCCGACTGCAGGGGCACC	0.637																																						ENST00000258111.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(226-228)tGc>tAc		potassium large conductance calcium-activated channel, subfamily M, beta member 4	Miconazole(DB01110)|Procaine(DB00721)						64.0	62.0	63.0					12																	70760741		2203	4300	6503	SO:0001583	missense	27345	0	0					g.chr12:70760741G>A	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.227G>A	chr12.hg19:g.70760741G>A	ENSP00000258111:p.Cys76Tyr	0						p.C76Y	NM_014505.5	NP_055320.4	1	2	3	2.002308	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)	1	686	+	Renal(347;0.236)		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	1	1	hg19	c.227G>A	CCDS8997.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994370	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.13538	2.58	3.37	2.44	0.29823	3.37	2.44	0.29823	.	0.055295	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74647	2.275	0.49130	D	0.999751	D	0.55385	0.971	P	0.52109	0.69	T	0.03910	-1.0993	10	0.66056	D	0.02	-5.2443	11.7488	0.51837	0.0:0.0:0.8218:0.1782	.	76	Q86W47	KCMB4_HUMAN	Y	76	ENSP00000258111:C76Y	ENSP00000258111:C76Y	C	+	2	0	0	KCNMB4	69047008	69047008	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.311000	0.89973	0.472000	0.27344	0.491000	0.48974	TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_014505			100	100		396	391	1		1	1		0	0	88	0		1	8.609515e-01	0	3	0	13	0	100	396
PTPRB	5787	broad.mit.edu	37	12	70938438	70938438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	ENST00000261266.5	-	20	4768	c.4739G>A	c.(4738-4740)aGc>aAc	p.S1580N	PTPRB_ENST00000334414.6_Missense_Mutation_p.S1798N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1580					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)			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)			AGCTCGAATGCTGATTCTGAA	0.368																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				107						c.(4738-4740)aGc>aAc		protein tyrosine phosphatase, receptor type, B							81.0	76.0	77.0					12																	70938438		1812	4074	5886	SO:0001583	missense	5787	0	0					g.chr12:70938438C>T	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.4739G>A	chr12.hg19:g.70938438C>T	ENSP00000261266:p.Ser1580Asn	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.S1798N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N	p.S1580N	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	20	4768	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	0	1	hg19	c.4739G>A	CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447575	0.84101	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.77358	0.55;0.55;0.55;-1.09;0.55;0.55	5.44	5.44	0.79542	5.44	5.44	0.79542	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	L	0.60455	1.87	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	0.999;0.999;0.999;0.993;0.997	D	0.87050	0.2146	10	0.59425	D	0.04	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	1490;1490;1798;1580;1710	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	N	1798;1490;1710;1490;1490;1580	ENSP00000334928:S1798N;ENSP00000393028:S1490N;ENSP00000448058:S1710N;ENSP00000438927:S1490N;ENSP00000447302:S1490N;ENSP00000261266:S1580N	ENSP00000261266:S1580N	S	-	2	0	0	PTPRB	69224705	69224705	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.810000	0.75216	2.563000	0.86464	0.585000	0.79938	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				23	22		106	105	0		1	0		0	0	29	0		9.999997e-01	9.939588e-01	0	0	0	41	0	23	106
PTPRB	5787	broad.mit.edu	37	12	70949649	70949649	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000261266.5	-	17	4369		c.e17+1		PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						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)			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)			GGGACACTTACGGTCTATCAT	0.522																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				107						c.e17+1		protein tyrosine phosphatase, receptor type, B							81.0	80.0	80.0					12																	70949649		2015	4179	6194	SO:0001630	splice_region_variant	5787	0	0					g.chr12:70949649C>T	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.4339+1G>A	chr12.hg19:g.70949649C>T		0					PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site		NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	17	4369	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	1	1	hg19		CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829620	0.91036	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PTPRB	69235916	69235916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.169000	0.77578	2.609000	0.88269	0.563000	0.77884	.	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-13.968650	1	0.170000		Intron		20	20		90	88	1		1	0		0	0	28	0		9.999972e-01	0	0	1	0	0	0	20	90
PTPRB	5787	broad.mit.edu	37	12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000261266.5	-	16	4027	c.3998A>C	c.(3997-3999)aAg>aCg	p.K1333T	PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1333	Fibronectin type-III 15. {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)			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)			ACTGACAGTCTTGACGTTGAA	0.413																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3997-3999)aAg>aCg		protein tyrosine phosphatase, receptor type, B							234.0	229.0	231.0					12																	70953185		1963	4142	6105	SO:0001583	missense	5787	0	0					g.chr12:70953185T>G	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.3998A>C	chr12.hg19:g.70953185T>G	ENSP00000261266:p.Lys1333Thr	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T	p.K1333T	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	16	4027	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	1	1	hg19	c.3998A>C	CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	T	9.706	1.155820	0.21454	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.84	-0.86	0.10680	5.84	-0.86	0.10680	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.323996	0.35151	N	0.003420	T	0.35566	0.0936	L	0.36672	1.1	0.28383	N	0.919434	B;B;B;B;B;P	0.39060	0.222;0.12;0.03;0.101;0.07;0.657	B;B;B;B;B;B	0.36922	0.173;0.173;0.049;0.171;0.18;0.236	T	0.34104	-0.9842	10	0.21540	T	0.41	.	10.3196	0.43758	0.0:0.5443:0.0:0.4557	.	1243;1243;1550;1551;1333;1463	P23467-2;F5H3G6;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	T	1551;1243;1463;1243;1243;1333;1550	ENSP00000334928:K1551T;ENSP00000393028:K1243T;ENSP00000448058:K1463T;ENSP00000438927:K1243T;ENSP00000447302:K1243T;ENSP00000261266:K1333T;ENSP00000448349:K1550T	ENSP00000261266:K1333T	K	-	2	0	0	PTPRB	69239452	69239452	0.999000	0.42202	0.994000	0.49952	0.639000	0.38242	0.880000	0.28159	-0.098000	0.12285	-0.290000	0.09829	AAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	0		2	2	2	0		0	0	185		185	185	1	2.060000	-20.000000	1	0.170000				192	191		709	700	1		1	0		0	0	185	0		1	9.997777e-01	0	0	0	47	0	192	709
PTPRB	5787	broad.mit.edu	37	12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C	rs199666344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000261266.5	-	16	3927	c.3898A>G	c.(3898-3900)Aga>Gga	p.R1300G	PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1300	Fibronectin type-III 15. {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)			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)			AGTGCATCTCTGGGCAACCAC	0.478													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0					ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3898-3900)Aga>Gga		protein tyrosine phosphatase, receptor type, B		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,3972		0,0,1986	251.0	245.0	247.0		4552,3628,3628,3898	1.0	0.0	12		247	2,8334		0,2,4166	yes	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	125,125,125,125	0,2,6152	CC,CT,TT		0.024,0.0,0.0162	benign,benign,benign,benign	1518/2216,1210/1908,1210/1908,1300/1998	70953285	2,12306	1986	4168	6154	SO:0001583	missense	5787	11	120902	46				g.chr12:70953285T>C	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.3898A>G	chr12.hg19:g.70953285T>C	ENSP00000261266:p.Arg1300Gly	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G	p.R1300G	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	16	3927	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	1	1	hg19	c.3898A>G	CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	T	8.024	0.760358	0.15914	0.0	2.4E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;3.64	6.11	0.985	0.19779	6.11	0.985	0.19779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464614	0.25789	N	0.028297	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.001;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.008;0.005;0.002;0.005;0.008;0.007	T	0.17899	-1.0354	10	0.20046	T	0.44	.	10.0031	0.41940	0.0:0.0624:0.4667:0.4709	.	1210;1210;1397;1517;1518;1300;1430	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1518;1210;1430;1210;1210;1300;1517;1397	ENSP00000334928:R1518G;ENSP00000393028:R1210G;ENSP00000448058:R1430G;ENSP00000438927:R1210G;ENSP00000447302:R1210G;ENSP00000261266:R1300G;ENSP00000448349:R1517G;ENSP00000446982:R1397G	ENSP00000261266:R1300G	R	-	1	2	2	PTPRB	69239552	69239552	0.000000	0.05858	0.015000	0.15790	0.331000	0.28603	0.325000	0.19628	-0.059000	0.13154	-0.316000	0.08728	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	0		2	2	2	0		0	0	174		174	172	1	2.060000	-20.000000	1	0.170000				190	189		741	728	1		1	1		0	0	174	0		1	9.999987e-01	0	2	0	73	0	190	741
PTPRB	5787	broad.mit.edu	37	12	70974816	70974816	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000261266.5	-	8	1953	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000451516.2_Splice_Site_p.V552F|PTPRB_ENST00000550857.1_Splice_Site_p.V552F|PTPRB_ENST00000550358.1_Splice_Site_p.V860L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	642	Fibronectin type-III 8. {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)			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)			TACTTCTTACCTGTTCTTCCC	0.453																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1924-1926)Gtc>Ttc		protein tyrosine phosphatase, receptor type, B							77.0	76.0	76.0					12																	70974816		1904	4135	6039	SO:0001630	splice_region_variant	5787	0	0					g.chr12:70974816C>A	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.1924+1G>T	chr12.hg19:g.70974816C>A		0					PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000451516.2_Splice_Site_p.V552F|PTPRB_ENST00000550358.1_Splice_Site_p.V860L|PTPRB_ENST00000550857.1_Splice_Site_p.V552F	p.V642F	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	8	1953	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	1	0	hg19	c.1924G>T	CCDS44944.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043851|5.043851	0.93685|0.93685	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000550358;ENST00000544694	T;T;T;T;T;T;T|T	0.05447|0.04862	3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.54	5.86|5.86	5.86|5.86	0.93980|0.93980	5.86|5.86	5.86|5.86	0.93980|0.93980	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.260319|0.260319	0.38897|0.38897	N|N	0.001529|0.001529	T|T	0.22781|0.22781	0.0550|0.0550	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|P	0.89917|0.36733	0.998;0.998;0.997;0.997;1.0;0.997|0.567	D;D;D;D;D;D|P	0.78314|0.47915	0.983;0.983;0.969;0.976;0.991;0.929|0.561	T|T	0.00166|0.00166	-1.1966|-1.1966	9|9	.|.	.|.	.|.	.|.	20.1986|20.1986	0.98248|0.98248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;642;739;859;860;642|860	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467|F8VU56	.;.;.;.;.;PTPRB_HUMAN|.	F|L	860;552;642;552;642;859;739|860	ENSP00000334928:V860F;ENSP00000393028:V552F;ENSP00000438927:V642F;ENSP00000447302:V552F;ENSP00000261266:V642F;ENSP00000448349:V859F;ENSP00000446982:V739F|ENSP00000448058:V860L	.|.	V|V	-|-	1|1	0|0	0|0	PTPRB|PTPRB	69261083|69261083	69261083|69261083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.131000|7.131000	0.77243|0.77243	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	GTC|GTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		46	45		218	211	1		1	0		0	0	74	0		1	9.343497e-01	0	0	0	24	0	46	218
PTPRB	5787	broad.mit.edu	37	12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000261266.5	-	7	1584	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	519	Fibronectin type-III 6. {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)			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)			AAAGTGAATTCTTTGGCATCT	0.433																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1555-1557)Gaa>Aaa		protein tyrosine phosphatase, receptor type, B							139.0	130.0	133.0					12																	70980889		1906	4122	6028	SO:0001583	missense	5787	0	0					g.chr12:70980889C>T	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.1555G>A	chr12.hg19:g.70980889C>T	ENSP00000261266:p.Glu519Lys	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K	p.E519K	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	7	1584	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	1	1	hg19	c.1555G>A	CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109322	0.56398	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	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	5.12	5.12	0.69794	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052530	0.64402	D	0.000001	T	0.73628	0.3611	M	0.79926	2.475	0.58432	D	0.999998	D;D;P;D;D;D;D	0.76494	0.996;0.996;0.921;0.989;0.995;0.996;0.999	D;D;P;D;D;D;D	0.70935	0.947;0.947;0.845;0.92;0.911;0.947;0.971	T	0.73717	-0.3895	10	0.35671	T	0.21	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	429;519;616;736;737;519;737	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	737;429;737;737;519;429;519;736;616	ENSP00000334928:E737K;ENSP00000393028:E429K;ENSP00000448058:E737K;ENSP00000438927:E519K;ENSP00000447302:E429K;ENSP00000261266:E519K;ENSP00000448349:E736K;ENSP00000446982:E616K	ENSP00000261266:E519K	E	-	1	0	0	PTPRB	69267156	69267156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				66	66		277	273	1		1	1		0	0	62	0		1	9.960899e-01	0	3	0	35	0	66	277
PTPRB	5787	broad.mit.edu	37	12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000261266.5	-	5	1105	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	359	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)			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)			AGAGACACAGCTGACAGTAAC	0.463																																						ENST00000261266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1075-1077)aGc>aTc		protein tyrosine phosphatase, receptor type, B							99.0	97.0	98.0					12																	70986112		1963	4151	6114	SO:0001583	missense	5787	0	0					g.chr12:70986112C>A	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.1076G>T	chr12.hg19:g.70986112C>A	ENSP00000261266:p.Ser359Ile	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I	p.S359I	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	5	1105	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	1	1	hg19	c.1076G>T	CCDS44944.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608439	0.46527	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.75	2.7	0.31948	5.75	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549706	0.21306	N	0.076726	T	0.58452	0.2123	L	0.43646	1.37	0.20975	N	0.999811	P;P;P;D;P;P;P;P	0.63880	0.567;0.567;0.666;0.993;0.7;0.567;0.621;0.658	P;P;P;P;P;P;P;P	0.62740	0.481;0.481;0.772;0.906;0.586;0.481;0.493;0.578	T	0.51293	-0.8724	10	0.22109	T	0.4	.	12.6582	0.56799	0.0:0.7041:0.2297:0.0662	.	359;359;456;577;576;577;359;577	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	I	577;359;577;577;359;359;359;576;456	ENSP00000334928:S577I;ENSP00000393028:S359I;ENSP00000448058:S577I;ENSP00000438927:S359I;ENSP00000447302:S359I;ENSP00000261266:S359I;ENSP00000448349:S576I;ENSP00000446982:S456I	ENSP00000261266:S359I	S	-	2	0	0	PTPRB	69272379	69272379	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.376000	0.44292	0.771000	0.33359	0.655000	0.94253	AGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				69	69		338	333	1		1	1		0	0	85	0		1	9.910114e-01	0	2	0	36	0	69	338
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000261266.5	-	5	973	c.944G>T	c.(943-945)gGa>gTa	p.G315V	PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	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)			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)			ATCCACATTTCCAGGAGGTCT	0.413																																						ENST00000261266.5	1.000000	0.350000	9.200000e-01	4.900000e-01	0.660000	0.689806	0.660000	1.000000																										0				107						c.(943-945)gGa>gTa		protein tyrosine phosphatase, receptor type, B							64.0	59.0	60.0					12																	70986244		1852	4099	5951	SO:0001583	missense	5787	0	0					g.chr12:70986244C>A	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.944G>T	chr12.hg19:g.70986244C>A	ENSP00000261266:p.Gly315Val	0					PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V	p.G315V	NM_002837.4	NP_002828.3	1	2	3	2.002308	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)	5	973	-	Renal(347;0.236)		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	1	1	hg19	c.944G>T	CCDS44944.1	0	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589837	0.86851	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.96	5.96	0.96718	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.29549	-1.0008	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533V;ENSP00000393028:G315V;ENSP00000448058:G533V;ENSP00000438927:G315V;ENSP00000447302:G315V;ENSP00000261266:G315V;ENSP00000448349:G532V;ENSP00000446982:G412V	ENSP00000261266:G315V	G	-	2	0	0	PTPRB	69272511	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-13.875780	1	0.170000				11	11		193	193	0		1	0		0	0	44	0		9.984728e-01	5.300344e-01	0	0	0	31	0	11	193
LGR5	8549	broad.mit.edu	37	12	71834062	71834062	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71834062A>G	ENST00000266674.5	+	1	513	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	68					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGCGTCTTCACCTCCTACCT	0.632																																						ENST00000266674.5	1.000000	0.200000	5.800000e-01	2.900000e-01	0.410000	0.456592	0.410000	0.390000																									NUP107/LGR5(2)	0				48						c.(202-204)Acc>Gcc		leucine-rich repeat containing G protein-coupled receptor 5							67.0	62.0	64.0					12																	71834062		2203	4300	6503	SO:0001583	missense	8549	0	0					g.chr12:71834062A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.202A>G	chr12.hg19:g.71834062A>G	ENSP00000266674:p.Thr68Ala	0					TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A	p.T68A			1	2	3	2.002308	O75473	LGR5_HUMAN		1	513	+			D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	1	1	hg19	c.202A>G	CCDS9000.1	0	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574483	0.86542	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90069	3.59;-2.61;4.26	4.79	4.79	0.61399	4.79	4.79	0.61399	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000035	D	0.86777	0.6014	L	0.28776	0.89	0.41768	D	0.98975	P;P	0.45078	0.802;0.85	P;P	0.49332	0.607;0.507	D	0.86747	0.1958	10	0.39692	T	0.17	.	14.1361	0.65289	1.0:0.0:0.0:0.0	.	68;68	O75473-2;O75473	.;LGR5_HUMAN	A	68	ENSP00000266674:T68A;ENSP00000443033:T68A;ENSP00000441035:T68A	ENSP00000266674:T68A	T	+	1	0	0	LGR5	70120329	70120329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.387000	0.79785	2.007000	0.58848	0.402000	0.26972	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	0	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-10.732690	1	0.170000	NM_003667			10	10		294	290	0		1	0		0	0	46	0		9.967469e-01	4.941129e-02	0	0	0	10	0	10	294
LGR5	8549	broad.mit.edu	37	12	71972657	71972657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71972657G>T	ENST00000266674.5	+	15	1665	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	452					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAAATTAACAGGAAATCATGC	0.363																																						ENST00000266674.5	1.000000	0.160000	4.300000e-01	2.300000e-01	0.310000	0.363401	0.310000	0.290000																									NUP107/LGR5(2)	0				48						c.(1354-1356)Gga>Tga		leucine-rich repeat containing G protein-coupled receptor 5							140.0	134.0	136.0					12																	71972657		2203	4300	6503	SO:0001587	stop_gained	8549	0	0					g.chr12:71972657G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1354G>T	chr12.hg19:g.71972657G>T	ENSP00000266674:p.Gly452*	0					LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*	p.G452*			1	2	3	2.002308	O75473	LGR5_HUMAN		15	1665	+			D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	0	1	hg19	c.1354G>T	CCDS9000.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.681761	0.96774	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	.	.	.	X	452;452;380;428	.	ENSP00000266674:G452X	G	+	1	0	0	LGR5	70258924	70258924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.698000	0.91311	2.768000	0.95171	0.650000	0.86243	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	0	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-2.212788	0	0.170000	NM_003667			12	12		463	457	0		1	0		0	0	84	0		9.990668e-01	2.483723e-02	0	0	0	9	0	12	463
LGR5	8549	broad.mit.edu	37	12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428																																						ENST00000266674.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									NUP107/LGR5(2)	0				48						c.(2713-2715)Cca>Tca		leucine-rich repeat containing G protein-coupled receptor 5							101.0	97.0	99.0					12																	71978503		2203	4300	6503	SO:0001583	missense	8549	0	0					g.chr12:71978503C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2713C>T	chr12.hg19:g.71978503C>T	ENSP00000266674:p.Pro905Ser	0					LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S	p.P905S			1	2	3	2.002308	O75473	LGR5_HUMAN		18	3024	+			D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	1	1	hg19	c.2713C>T	CCDS9000.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317289	0.40996	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.49	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.45216	0.1331	L	0.43923	1.385	0.45822	D	0.998691	B;B	0.33528	0.416;0.292	B;B	0.35278	0.199;0.098	T	0.28267	-1.0049	10	0.10636	T	0.68	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	S	905;833;881	ENSP00000266674:P905S;ENSP00000443033:P833S;ENSP00000441035:P881S	ENSP00000266674:P905S	P	+	1	0	0	LGR5	70264770	70264770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.815000	0.62634	2.833000	0.97629	0.585000	0.79938	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-3.224213	1	0.170000	NM_003667			94	92		499	483	1		1	1		0	0	111	0		1	4.894517e-01	0	4	0	6	0	94	499
ZFC3H1	196441	broad.mit.edu	37	12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1777					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388																																						ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(5329-5331)aGa>aTa		zinc finger, C3H1-type containing							216.0	196.0	202.0					12																	72008644		1923	4150	6073	SO:0001583	missense	196441	0	0					g.chr12:72008644C>A	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.5330G>T	chr12.hg19:g.72008644C>A	ENSP00000368017:p.Arg1777Ile	0						p.R1777I	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		29	5688	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.5330G>T	CCDS41813.1	1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036083	0.19590	.	.	ENSG00000133858	ENST00000378743	T	0.32272	1.46	5.2	0.144	0.14824	5.2	0.144	0.14824	.	0.130606	0.53938	D	0.000060	T	0.15262	0.0368	N	0.19112	0.55	0.41689	D	0.989331	P	0.41748	0.761	B	0.35413	0.202	T	0.05146	-1.0903	10	0.38643	T	0.18	.	9.4812	0.38902	0.0:0.4191:0.0:0.5809	.	1777	O60293	ZC3H1_HUMAN	I	1777	ENSP00000368017:R1777I	ENSP00000368017:R1777I	R	-	2	0	0	ZFC3H1	70294911	70294911	1.000000	0.71417	0.921000	0.36526	0.258000	0.26162	1.667000	0.37471	0.036000	0.15547	-0.252000	0.11476	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_144982			112	111		492	473	1		1	1		0	0	105	0		1	9.997928e-01	0	15	0	41	0	112	492
ZFC3H1	196441	broad.mit.edu	37	12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1564					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299																																						ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(4690-4692)cAa>cGa		zinc finger, C3H1-type containing							99.0	89.0	92.0					12																	72017193		1848	4094	5942	SO:0001583	missense	196441	0	0					g.chr12:72017193T>C	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.4691A>G	chr12.hg19:g.72017193T>C	ENSP00000368017:p.Gln1564Arg	0						p.Q1564R	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		24	5049	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.4691A>G	CCDS41813.1	1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481682	0.12581	.	.	ENSG00000133858	ENST00000378743	T	0.32515	1.45	4.98	3.84	0.44239	4.98	3.84	0.44239	.	0.152990	0.45606	D	0.000360	T	0.15046	0.0363	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09164	-1.0687	10	0.13853	T	0.58	.	5.883	0.18866	0.1462:0.0788:0.0:0.775	.	1564	O60293	ZC3H1_HUMAN	R	1564	ENSP00000368017:Q1564R	ENSP00000368017:Q1564R	Q	-	2	0	0	ZFC3H1	70303460	70303460	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.069000	0.50026	0.747000	0.32809	0.460000	0.39030	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_144982			50	50		228	226	1		1	1		0	0	58	0		1	9.995562e-01	0	23	0	33	0	50	228
ZFC3H1	196441	broad.mit.edu	37	12	72024411	72024411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1231					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328																																						ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				69						c.(3691-3693)acA>acG		zinc finger, C3H1-type containing							76.0	72.0	73.0					12																	72024411		1810	4077	5887	SO:0001819	synonymous_variant	196441	0	0					g.chr12:72024411T>C	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.3693A>G	chr12.hg19:g.72024411T>C		0						p.T1231T	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		18	4051	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	1	1	hg19	c.3693A>G	CCDS41813.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.371147	1	0.170000	NM_144982			34	33		172	168	1		1	1		0	0	50	0		1	9.987301e-01	0	14	0	41	0	34	172
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378																																						ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2977-2979)Gaa>Aaa		zinc finger, C3H1-type containing							159.0	155.0	156.0					12																	72026135		1831	4078	5909	SO:0001583	missense	196441	0	0					g.chr12:72026135C>T	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.2977G>A	chr12.hg19:g.72026135C>T	ENSP00000368017:p.Glu993Lys	0						p.E993K	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		15	3335	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.2977G>A	CCDS41813.1	1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484524	0.63962	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.062950	0.64402	D	0.000007	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.02339	-1.1174	10	0.49607	T	0.09	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	993	O60293	ZC3H1_HUMAN	K	993	ENSP00000368017:E993K	ENSP00000368017:E993K	E	-	1	0	0	ZFC3H1	70312402	70312402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.705000	0.54823	2.779000	0.95612	0.585000	0.79938	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1		2	2	2	0		0	0	190		190	188	1	2.060000	-20.000000	1	0.170000	NM_144982			187	182		912	897	1		1	1		0	0	190	0		1	9.986425e-01	0	14	0	35	0	187	912
ZFC3H1	196441	broad.mit.edu	37	12	72030364	72030364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72030364T>C	ENST00000378743.3	-	9	2364	c.2006A>G	c.(2005-2007)aAt>aGt	p.N669S	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	669					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATTGATAGATTGCTTCTTGG	0.418																																						ENST00000378743.3	1.000000	0.180000	4.500000e-01	2.400000e-01	0.330000	0.377944	0.330000	0.310000																										0				69						c.(2005-2007)aAt>aGt		zinc finger, C3H1-type containing							167.0	156.0	160.0					12																	72030364		1886	4122	6008	SO:0001583	missense	196441	0	0					g.chr12:72030364T>C	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.2006A>G	chr12.hg19:g.72030364T>C	ENSP00000368017:p.Asn669Ser	0					SNORA17_ENST00000391159.1_RNA	p.N669S	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		9	2364	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.2006A>G	CCDS41813.1	0	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759292	0.49468	.	.	ENSG00000133858	ENST00000378743	T	0.40225	1.04	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	T	0.05007	-1.0912	10	0.23302	T	0.38	.	11.0562	0.47920	0.0:0.0:0.1553:0.8447	.	669	O60293	ZC3H1_HUMAN	S	669	ENSP00000368017:N669S	ENSP00000368017:N669S	N	-	2	0	0	ZFC3H1	70316631	70316631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.695000	0.61767	1.943000	0.56356	0.383000	0.25322	AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.438621	1	0.170000	NM_144982			13	13		475	470	0		1	0		0	0	77	0		9.995119e-01	1.614116e-01	0	1	0	24	0	13	475
ZFC3H1	196441	broad.mit.edu	37	12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	549	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343																																						ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				69						c.(1645-1647)cCg>cTg		zinc finger, C3H1-type containing							50.0	50.0	50.0					12																	72032277		1805	4069	5874	SO:0001583	missense	196441	0	0					g.chr12:72032277G>A	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.1646C>T	chr12.hg19:g.72032277G>A	ENSP00000368017:p.Pro549Leu	0					SNORA17_ENST00000391159.1_RNA	p.P549L	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		7	2004	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.1646C>T	CCDS41813.1	1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101597	0.20632	.	.	ENSG00000133858	ENST00000378743	T	0.30448	1.53	5.39	3.52	0.40303	5.39	3.52	0.40303	.	0.401401	0.25680	N	0.029017	T	0.17152	0.0412	N	0.12182	0.205	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.04191	-1.0970	10	0.32370	T	0.25	.	11.069	0.47993	0.0:0.0:0.6645:0.3355	.	549	O60293	ZC3H1_HUMAN	L	549	ENSP00000368017:P549L	ENSP00000368017:P549L	P	-	2	0	0	ZFC3H1	70318544	70318544	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.804000	0.38873	0.603000	0.29913	0.655000	0.94253	CCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.369380	1	0.170000	NM_144982			18	17		69	68	1		1	1		0	0	32	0		9.999896e-01	9.956579e-01	0	11	0	27	0	18	69
ZFC3H1	196441	broad.mit.edu	37	12	72036294	72036294	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72036294C>G	ENST00000378743.3	-	6	1907	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	517					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCCACTATCAGTAGGTTGC	0.383																																						ENST00000378743.3	1.000000	0.090000	3.000000e-01	1.300000e-01	0.200000	0.258487	0.200000	0.190000																										0				69						c.(1549-1551)Gat>Cat		zinc finger, C3H1-type containing							171.0	155.0	160.0					12																	72036294		1857	4098	5955	SO:0001583	missense	196441	0	0					g.chr12:72036294C>G	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.1549G>C	chr12.hg19:g.72036294C>G	ENSP00000368017:p.Asp517His	0						p.D517H	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		6	1907	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	0	1	hg19	c.1549G>C	CCDS41813.1	0	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748941	0.89753	.	.	ENSG00000133858	ENST00000378743	T	0.38077	1.16	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.19112	0.55	0.80722	D	1	P	0.47604	0.898	P	0.47786	0.557	T	0.23013	-1.0200	10	0.72032	D	0.01	.	19.6898	0.95996	0.0:1.0:0.0:0.0	.	517	O60293	ZC3H1_HUMAN	H	517	ENSP00000368017:D517H	ENSP00000368017:D517H	D	-	1	0	0	ZFC3H1	70322561	70322561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.669000	0.90835	0.655000	0.94253	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	0		2	2	2	0		0	0	139		139	139	1	2.060000	-2.652878	1	0.170000	NM_144982			8	8		499	492	0		1	1		0	0	139	0		9.888583e-01	2.357857e-01	0	4	0	48	0	8	499
ZFC3H1	196441	broad.mit.edu	37	12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000378743.3	-	1	440	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	THAP2_ENST00000308086.2_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	28					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(82-84)Agt>Cgt		zinc finger, C3H1-type containing							90.0	105.0	100.0					12																	72057309		2090	4221	6311	SO:0001583	missense	196441	0	0					g.chr12:72057309T>G	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.82A>C	chr12.hg19:g.72057309T>G	ENSP00000368017:p.Ser28Arg	0		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	p.S28R	NM_144982.4	NP_659419.3	1	2	3	2.002308	O60293	ZC3H1_HUMAN		1	440	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	1	hg19	c.82A>C	CCDS41813.1	1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751945	0.49362	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35789	1.29	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.070259	0.56097	D	0.000036	T	0.38931	0.1059	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59288	0.855;0.855;0.72	T	0.38222	-0.9671	10	0.87932	D	0	.	12.7363	0.57225	0.0:0.0:0.0:1.0	.	28;28;28	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	28	ENSP00000368017:S28R	ENSP00000368017:S28R	S	-	1	0	0	ZFC3H1	70343576	70343576	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.598000	0.54038	2.104000	0.64026	0.455000	0.32223	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1		2	2	2	0		0	0	189		189	186	1	2.060000	-20.000000	1	0.170000	NM_144982			207	206		1001	980	1		1	1		0	0	189	0		1	9.833147e-01	0	8	0	25	0	207	1001
THAP2	83591	broad.mit.edu	37	12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	192						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378																																						ENST00000308086.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(574-576)Cca>Tca		THAP domain containing, apoptosis associated protein 2							88.0	81.0	83.0					12																	72070775		2203	4299	6502	SO:0001583	missense	83591	2	121408	32				g.chr12:72070775C>T	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.574C>T	chr12.hg19:g.72070775C>T	ENSP00000310796:p.Pro192Ser	0					RP11-293I14.2_ENST00000548802.1_Intron	p.P192S	NM_031435.3	NP_113623.1	1	2	3	2.002308	Q9H0W7	THAP2_HUMAN		3	2075	+			B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	1	1	hg19	c.574C>T	CCDS9001.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503363	0.85176	.	.	ENSG00000173451	ENST00000308086	D	0.97232	-4.3	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.44902	D	0.000415	D	0.95831	0.8643	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93516	0.6857	10	0.12766	T	0.61	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	192	Q9H0W7	THAP2_HUMAN	S	192	ENSP00000310796:P192S	ENSP00000310796:P192S	P	+	1	0	0	THAP2	70357042	70357042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.161000	0.50747	2.873000	0.98535	0.563000	0.77884	CCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_031435			55	55		250	244	1		1	1		0	0	58	0		1	7.476110e-01	0	4	0	10	0	55	250
TMEM19	55266	broad.mit.edu	37	12	72080331	72080331	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72080331C>A	ENST00000266673.5	+	0	465				RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GATTTTTATGCTTGTTTGGTC	0.438																																						ENST00000266673.5	1.000000	0.860000	1	9.900000e-01	0.990000	0.992107	0.990000	1.000000																										0				9								transmembrane protein 19																																						55266	0	0					g.chr12:72080331C>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558		chr12.hg19:g.72080331C>A		0					RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame		NM_018279.3	NP_060749.2	1	2	3	2.002308	Q96HH6	TMM19_HUMAN		0	465	+		Breast(359;0.0889)	B2RDL2|Q53FY3|Q9NV41	Translation_Start_Site	SNP	ENST00000266673.5	0	1	hg19		CCDS9002.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-17.928480	1	0.170000	NM_018279			7	7		33	33	0		1	1		0	0	12	0		9.840074e-01	9.976815e-01	0	10	0	53	0	7	33
TMEM19	55266	broad.mit.edu	37	12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T	rs373199946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	51						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413																																						ENST00000266673.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(151-153)cCg>cTg		transmembrane protein 19		C	LEU/PRO	0,4406		0,0,2203	258.0	243.0	248.0		152	5.3	1.0	12		248	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM19	NM_018279.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	51/337	72083392	1,13005	2203	4300	6503	SO:0001583	missense	55266	12	121412	42				g.chr12:72083392C>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.152C>T	chr12.hg19:g.72083392C>T	ENSP00000266673:p.Pro51Leu	0					RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	p.P51L	NM_018279.3	NP_060749.2	1	2	3	2.002308	Q96HH6	TMM19_HUMAN		2	746	+		Breast(359;0.0889)	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	1	1	hg19	c.152C>T	CCDS9002.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.167020	0.94768	0.0	1.16E-4	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.78259	-0.2273	9	0.38643	T	0.18	-18.4485	19.0554	0.93062	0.0:1.0:0.0:0.0	.	51;51	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	L	51	.	ENSP00000266673:P51L	P	+	2	0	0	TMEM19	70369659	70369659	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	6.813000	0.75231	2.496000	0.84212	0.655000	0.94253	CCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	0	0	1		17	6	2	1		1	1	108		108	107	1	2.060000	-2.958249	1	0.170000	NM_018279			93	92		437	430	1		1	1		1	0	108	0		1	9.998513e-01	0	26	0	82	0	93	437
TBC1D15	64786	broad.mit.edu	37	12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000548679.1_3'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	417	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)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318																																						ENST00000550746.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				24						c.(1249-1251)aGa>aAa		TBC1 domain family, member 15							154.0	135.0	142.0					12																	72300817		2201	4298	6499	SO:0001583	missense	64786	0	0					g.chr12:72300817G>A	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.1250G>A	chr12.hg19:g.72300817G>A	ENSP00000448182:p.Arg417Lys	0					TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K	p.R417K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	1	2	3	2.002308	Q8TC07	TBC15_HUMAN		12	1314	+			B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	1	1	hg19	c.1250G>A	CCDS31858.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263479	0.95399	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.19	5.19	0.71726	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.98466	4.24	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.99;0.992	D	0.85054	0.0930	10	0.87932	D	0	-16.0406	18.7218	0.91698	0.0:0.0:1.0:0.0	.	408;400;417	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	417;408;400;171	ENSP00000448182:R417K;ENSP00000318262:R408K;ENSP00000420678:R400K;ENSP00000376986:R171K	ENSP00000318262:R408K	R	+	2	0	0	TBC1D15	70587084	70587084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.416000	0.81992	0.650000	0.86243	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_022771			22	22		92	91	1		1	1		0	0	23	0		9.999994e-01	1	0	79	0	214	0	22	92
TPH2	121278	broad.mit.edu	37	12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	386					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)			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)	CTCCATTGGAGAATTAAAGGT	0.428																																						ENST00000333850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1156-1158)Gaa>Taa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						92.0	86.0	88.0					12																	72416266		2203	4300	6503	SO:0001587	stop_gained	121278	0	0					g.chr12:72416266G>T	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.1156G>T	chr12.hg19:g.72416266G>T	ENSP00000329093:p.Glu386*	0						p.E386*	NM_173353.3	NP_775489.2	1	2	3	2.002308	Q8IWU9	TPH2_HUMAN		9	1297	+			A6NGA4|Q14CB0	Nonsense_Mutation	SNP	ENST00000333850.3	0	1	hg19	c.1156G>T	CCDS31859.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.518037	0.98332	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.048507	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000329093:E386X	E	+	1	0	0	TPH2	70702533	70702533	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.421819	1	0.170000	NM_173353			52	51		237	231	1		1			0	0	51	0		1	0	0	0	0	0	0	52	237
TPH2	121278	broad.mit.edu	37	12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A	rs533065952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	390					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)			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)	TTTGCAGCACGCCCTTTCTGA	0.423																																						ENST00000333850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1168-1170)Gcc>Acc		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						104.0	111.0	108.0					12																	72425041		2203	4300	6503	SO:0001583	missense	121278	0	0					g.chr12:72425041G>A	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.1168G>A	chr12.hg19:g.72425041G>A	ENSP00000329093:p.Ala390Thr	0						p.A390T	NM_173353.3	NP_775489.2	1	2	3	2.002308	Q8IWU9	TPH2_HUMAN		10	1309	+			A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	1	1	hg19	c.1168G>A	CCDS31859.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953843	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99758	-6.65	5.56	5.56	0.83823	5.56	5.56	0.83823	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.93106	3.38	0.80722	D	1	D	0.53151	0.958	P	0.48627	0.584	D	0.98415	1.0574	10	0.72032	D	0.01	-17.6951	19.8892	0.96923	0.0:0.0:1.0:0.0	.	390	Q8IWU9	TPH2_HUMAN	T	390	ENSP00000329093:A390T	ENSP00000329093:A390T	A	+	1	0	0	TPH2	70711308	70711308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.929000	0.87595	2.777000	0.95525	0.591000	0.81541	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.036332	1	0.170000	NM_173353			80	78		396	392	1		1			0	0	82	0		1	0	0	0	0	0	0	80	396
TRHDE	29953	broad.mit.edu	37	12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	242					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)			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						CGCTCATCGAGAATGAGCTCC	0.602																																						ENST00000261180.4	1.000000	0.240000	5.300000e-01	3.100000e-01	0.400000	0.446675	0.400000	0.390000																										0				79						c.(724-726)gaG>gaT		thyrotropin-releasing hormone degrading enzyme							52.0	55.0	54.0					12																	72667284		2202	4299	6501	SO:0001583	missense	29953	0	0					g.chr12:72667284G>T	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.726G>T	chr12.hg19:g.72667284G>T	ENSP00000261180:p.Glu242Asp	0					TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	p.E242D	NM_013381.2	NP_037513.1	1	2	3	2.002308	Q9UKU6	TRHDE_HUMAN		1	822	+			A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	1	1	hg19	c.726G>T	CCDS9004.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677174|1.677174	0.29783|0.29783	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04083|.	3.71|.	5.23|5.23	3.32|3.32	0.38043|0.38043	5.23|5.23	3.32|3.32	0.38043|0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41373|.	0.1156|.	N|N	0.16037|0.16037	0.36|0.36	0.42043|0.42043	D|D	0.991086|0.991086	D|.	0.59357|.	0.985|.	P|.	0.54590|.	0.756|.	T|.	0.36335|.	-0.9752|.	10|.	0.27082|0.52906	T|T	0.32|0.07	.|.	10.4009|10.4009	0.44229|0.44229	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	242|.	Q9UKU6|.	TRHDE_HUMAN|.	D|X	242|8	ENSP00000261180:E242D|.	ENSP00000261180:E242D|ENSP00000447822:E8X	E|E	+|+	3|1	2|0	2|0	TRHDE|TRHDE	70953551|70953551	70953551|70953551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.157000|0.157000	0.22087|0.22087	3.867000|3.867000	0.56047|0.56047	0.526000|0.526000	0.28541|0.28541	0.609000|0.609000	0.83330|0.83330	GAG|GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.687684	1	0.170000	NM_013381			18	18		526	517	0		1			0	0	85	0		9.999795e-01	0	0	0	0	0	0	18	526
TRHDE	29953	broad.mit.edu	37	12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	369					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)			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						GGGGACTATGCTCTCCATATA	0.318																																						ENST00000261180.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1105-1107)gCt>gAt		thyrotropin-releasing hormone degrading enzyme							66.0	69.0	68.0					12																	72771827		2203	4298	6501	SO:0001583	missense	29953	0	0					g.chr12:72771827C>A	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.1106C>A	chr12.hg19:g.72771827C>A	ENSP00000261180:p.Ala369Asp	0						p.A369D	NM_013381.2	NP_037513.1	1	2	3	2.002308	Q9UKU6	TRHDE_HUMAN		3	1202	+			A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	1	1	hg19	c.1106C>A	CCDS9004.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423237	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.03553	3.89	5.57	5.57	0.84162	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44651	-0.9314	10	0.87932	D	0	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	369	Q9UKU6	TRHDE_HUMAN	D	369	ENSP00000261180:A369D	ENSP00000261180:A369D	A	+	2	0	0	TRHDE	71058094	71058094	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_013381			63	63		309	307	0		1			0	0	92	0		1	0	0	0	0	0	0	63	309
KCNC2	3747	broad.mit.edu	37	12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000549446.1	-	3	1873	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	398					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)			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)	GTAGATCATGGTAGCAAATAT	0.448																																						ENST00000549446.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1192-1194)aCc>aTc		potassium voltage-gated channel, Shaw-related subfamily, member 2	Dalfampridine(DB06637)						65.0	64.0	64.0					12																	75444592		2203	4300	6503	SO:0001583	missense	3747	0	0					g.chr12:75444592G>A	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.1193C>T	chr12.hg19:g.75444592G>A	ENSP00000449253:p.Thr398Ile	0					KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I	p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	1	2	3	2.002308	Q96PR1	KCNC2_HUMAN		3	1873	-			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	1	1	hg19	c.1193C>T	CCDS9007.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258306	0.80246	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	6.06	6.06	0.98353	6.06	6.06	0.98353	Ion transport (1);	0.079838	0.53938	D	0.000052	D	0.98673	0.9555	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.99;1.0;0.947	D	0.99846	1.1066	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	398;398;398;398;398	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	398	ENSP00000448301:T398I;ENSP00000449941:T398I;ENSP00000449253:T398I;ENSP00000340121:T398I;ENSP00000298972:T398I;ENSP00000319877:T398I;ENSP00000438423:T398I;ENSP00000376966:T398I	ENSP00000298972:T398I	T	-	2	0	0	KCNC2	73730859	73730859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	ACC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_153748			51	51		225	221	1		1			0	0	63	0		1	0	0	0	0	0	0	51	225
KCNC2	3747	broad.mit.edu	37	12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000549446.1	-	3	1849	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	390					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)			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)	AACTCCTAGAGCCAGGAAAAT	0.438																																						ENST00000549446.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1168-1170)gCt>gAt		potassium voltage-gated channel, Shaw-related subfamily, member 2	Dalfampridine(DB06637)						56.0	56.0	56.0					12																	75444616		2203	4300	6503	SO:0001583	missense	3747	0	0					g.chr12:75444616G>T	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.1169C>A	chr12.hg19:g.75444616G>T	ENSP00000449253:p.Ala390Asp	0					KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D	p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	1	2	3	2.002308	Q96PR1	KCNC2_HUMAN		3	1849	-			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	1	1	hg19	c.1169C>A	CCDS9007.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480886	0.84747	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	6.06	6.06	0.98353	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99214	0.9727	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.958	D;D;D;D;P	0.87578	0.994;0.998;0.979;0.996;0.759	D	0.99308	1.0903	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	390;390;390;390;390	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	390	ENSP00000448301:A390D;ENSP00000449941:A390D;ENSP00000449253:A390D;ENSP00000340121:A390D;ENSP00000298972:A390D;ENSP00000319877:A390D;ENSP00000438423:A390D;ENSP00000376966:A390D	ENSP00000298972:A390D	A	-	2	0	0	KCNC2	73730883	73730883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_153748			53	53		209	205	1		1			0	0	59	0		1	0	0	0	0	0	0	53	209
KCNC2	3747	broad.mit.edu	37	12	75444879	75444879	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000549446.1	-	3	1586	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	302					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)			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)	TGGGTGAAAAAACAATACGGA	0.388																																						ENST00000549446.1	1.000000	0.190000	4.600000e-01	2.600000e-01	0.340000	0.389255	0.340000	0.330000																										0				54						c.(904-906)gtT>gtG		potassium voltage-gated channel, Shaw-related subfamily, member 2	Dalfampridine(DB06637)						113.0	106.0	108.0					12																	75444879		2203	4300	6503	SO:0001819	synonymous_variant	3747	0	0					g.chr12:75444879A>C	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.906T>G	chr12.hg19:g.75444879A>C		0					KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Silent_p.V302V	p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	1	2	3	2.002308	Q96PR1	KCNC2_HUMAN		3	1586	-			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	1	1	hg19	c.906T>G	CCDS9007.1	0																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-13.587010	1	0.170000	NM_153748			15	15		524	513	0		1			0	0	98	0		9.998526e-01	0	0	0	0	0	0	15	524
CAPS2	84698	broad.mit.edu	37	12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000409445.3	-	11	1158	c.962A>G	c.(961-963)gAc>gGc	p.D321G	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.D89G	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	321							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343																																						ENST00000409445.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(961-963)gAc>gGc		calcyphosine 2							88.0	86.0	87.0					12																	75692696		2203	4300	6503	SO:0001583	missense	84698	0	0					g.chr12:75692696T>C	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.962A>G	chr12.hg19:g.75692696T>C	ENSP00000386959:p.Asp321Gly	0					CAPS2_ENST00000393284.3_Missense_Mutation_p.D89G|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron	p.D321G	NM_032606.3	NP_115995.2	1	2	3	2.002308	Q9BXY5	CAYP2_HUMAN		11	1158	-			Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	1	1	hg19	c.962A>G	CCDS9008.2	1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881570	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.51574	0.7;1.35	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68621	0.959;0.827	T	0.74386	-0.3682	10	0.66056	D	0.02	-11.7444	15.8224	0.78667	0.0:0.0:0.0:1.0	.	89;321	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	G	321;89	ENSP00000386959:D321G;ENSP00000376963:D89G	ENSP00000376963:D89G	D	-	2	0	0	CAPS2	73978963	73978963	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.064000	0.71169	2.149000	0.67028	0.519000	0.50382	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				44	43		195	191	1		1	0		0	0	36	0		1	3.857707e-01	0	1	0	6	0	44	195
GLIPR1L1	256710	broad.mit.edu	37	12	75763911	75763911	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000378695.4	+	6	774	c.684C>T	c.(682-684)gcC>gcT	p.A228A	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.A219A|GLIPR1L1_ENST00000548623.1_3'UTR			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	228					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313																																						ENST00000378695.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(682-684)gcC>gcT		GLI pathogenesis-related 1 like 1							90.0	96.0	94.0					12																	75763911		2203	4300	6503	SO:0001819	synonymous_variant	256710	0	0					g.chr12:75763911C>T	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.684C>T	chr12.hg19:g.75763911C>T		0					GLIPR1L1_ENST00000312442.2_Silent_p.A219A|GLIPR1L1_ENST00000548623.1_3'UTR|CAPS2_ENST00000442339.2_Intron	p.A228A			1	2	3	2.002308	Q6UWM5	GPRL1_HUMAN		6	774	+			Q96L06	Silent	SNP	ENST00000378695.4	1	1	hg19	c.684C>T		1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.211939	1	0.170000	NM_152779			47	45		224	221	1		1			0	0	50	0		1	0	0	0	0	0	0	47	224
GLIPR1	11010	broad.mit.edu	37	12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	117	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468																																						ENST00000266659.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(349-351)tgG>tgA		GLI pathogenesis-related 1							111.0	98.0	102.0					12																	75875790		2203	4300	6503	SO:0001587	stop_gained	11010	1	121412	29				g.chr12:75875790G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.351G>A	chr12.hg19:g.75875790G>A	ENSP00000266659:p.Trp117*	0					RP11-585P4.5_ENST00000547326.1_RNA	p.W117*	NM_006851.2	NP_006842.2	1	2	3	2.002308	P48060	GLIP1_HUMAN		2	552	+			A7YET6|F8VUC2|Q15409|Q969K2	Nonsense_Mutation	SNP	ENST00000266659.3	0	1	hg19	c.351G>A	CCDS9011.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530799	0.64860	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000266659:W117X	W	+	3	0	0	GLIPR1	74162057	74162057	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_006851			95	92		437	431	1		1	0		0	0	84	0		1	1	0	0	0	198	0	95	437
NAP1L1	4673	broad.mit.edu	37	12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	383					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388																																						ENST00000261182.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1147-1149)Caa>Taa		nucleosome assembly protein 1-like 1							192.0	162.0	172.0					12																	76442238		2203	4300	6503	SO:0001587	stop_gained	4673	0	0					g.chr12:76442238G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1147C>T	chr12.hg19:g.76442238G>A	ENSP00000261182:p.Gln383*	0					NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*	p.Q383*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	1	2	3	2.002308	P55209	NP1L1_HUMAN		15	1633	-		Colorectal(145;0.09)	B3KNT8	Nonsense_Mutation	SNP	ENST00000261182.8	0	1	hg19	c.1147C>T	CCDS9013.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.613130	0.97705	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.602068	0.18452	N	0.140818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	383;377;383;315;320;200;341	.	ENSP00000261182:Q383X	Q	-	1	0	0	NAP1L1	74728505	74728505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.480000	0.73604	2.717000	0.92951	0.585000	0.79938	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_139207			106	105		415	408	0		1	1		0	0	79	0		1	1	0	55	0	1072	0	106	415
BBS10	79738	broad.mit.edu	37	12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	540					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363									Bardet-Biedl syndrome																													ENST00000393262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1618-1620)tTa>tCa		Bardet-Biedl syndrome 10							127.0	123.0	124.0					12																	76740146		2203	4300	6503	SO:0001583	missense	79738	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr12:76740146A>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1619T>C	chr12.hg19:g.76740146A>G	ENSP00000376946:p.Leu540Ser	0						p.L540S	NM_024685.3	NP_078961.3	1	2	3	2.002308	Q8TAM1	BBS10_HUMAN		2	1702	-			Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	1	1	hg19	c.1619T>C	CCDS9014.2	1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.062276	0.00386	.	.	ENSG00000179941	ENST00000393262	D	0.85861	-2.04	4.69	0.647	0.17796	4.69	0.647	0.17796	.	1.854630	0.02745	N	0.116791	T	0.72534	0.3472	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.54833	-0.8234	10	0.21540	T	0.41	0.4892	2.1329	0.03754	0.4868:0.2422:0.0772:0.1938	.	540	Q8TAM1	BBS10_HUMAN	S	540	ENSP00000376946:L540S	ENSP00000376946:L540S	L	-	2	0	0	BBS10	75264277	75264277	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	0.023000	0.15187	0.533000	0.62120	TTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_024685			98	97		399	394	1		1	1		0	0	86	0		1	9.997100e-01	0	12	0	39	0	98	399
BBS10	79738	broad.mit.edu	37	12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	454					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348									Bardet-Biedl syndrome																													ENST00000393262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1360-1362)agT>agG		Bardet-Biedl syndrome 10							84.0	89.0	88.0					12																	76740403		2203	4300	6503	SO:0001583	missense	79738	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr12:76740403A>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1362T>G	chr12.hg19:g.76740403A>C	ENSP00000376946:p.Ser454Arg	0						p.S454R	NM_024685.3	NP_078961.3	1	2	3	2.002308	Q8TAM1	BBS10_HUMAN		2	1445	-			Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	1	1	hg19	c.1362T>G	CCDS9014.2	1	.	.	.	.	.	.	.	.	.	.	A	1.011	-0.688023	0.03328	.	.	ENSG00000179941	ENST00000393262	D	0.85955	-2.05	4.68	2.25	0.28309	4.68	2.25	0.28309	.	0.440664	0.21561	N	0.072570	T	0.78585	0.4306	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.67074	-0.5762	10	0.46703	T	0.11	-1.8535	7.4204	0.27069	0.8247:0.0:0.1753:0.0	.	454	Q8TAM1	BBS10_HUMAN	R	454	ENSP00000376946:S454R	ENSP00000376946:S454R	S	-	3	2	2	BBS10	75264534	75264534	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.316000	0.19469	0.373000	0.24621	0.533000	0.62120	AGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_024685			92	92		422	409	1		1	1		0	0	98	0		1	9.956246e-01	0	6	0	34	0	92	422
BBS10	79738	broad.mit.edu	37	12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	13					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393262.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				19						c.(37-39)gCg>gTg		Bardet-Biedl syndrome 10							12.0	14.0	14.0					12																	76742101		2018	4170	6188	SO:0001583	missense	79738	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr12:76742101G>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.38C>T	chr12.hg19:g.76742101G>A	ENSP00000376946:p.Ala13Val	0		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.A13V	NM_024685.3	NP_078961.3	1	2	3	2.002308	Q8TAM1	BBS10_HUMAN		1	121	-			Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	0	1	hg19	c.38C>T	CCDS9014.2	1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206551	0.39003	.	.	ENSG00000179941	ENST00000393262	D	0.90004	-2.6	5.23	-2.25	0.06888	5.23	-2.25	0.06888	.	0.695765	0.11678	U	0.540041	T	0.72700	0.3493	N	0.12746	0.255	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.57516	-0.7798	10	0.24483	T	0.36	0.1479	4.4878	0.11799	0.4616:0.0:0.2864:0.252	.	13	Q8TAM1	BBS10_HUMAN	V	13	ENSP00000376946:A13V	ENSP00000376946:A13V	A	-	2	0	0	BBS10	75266232	75266232	0.000000	0.05858	0.059000	0.19551	0.658000	0.38924	-2.093000	0.01353	-0.365000	0.08076	0.561000	0.74099	GCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_024685			18	18		69	67	1		1	1		0	0	17	0		9.999896e-01	9.874972e-01	0	2	0	29	0	18	69
OSBPL8	114882	broad.mit.edu	37	12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	870					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.D870E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328																																						ENST00000261183.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										1	Substitution - Missense(1)	p.D870E(1)	breast(1)	28						c.(2608-2610)gaC>gaA		oxysterol binding protein-like 8							90.0	92.0	91.0					12																	76749729		2203	4300	6503	SO:0001583	missense	114882	0	0					g.chr12:76749729G>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2610C>A	chr12.hg19:g.76749729G>T	ENSP00000261183:p.Asp870Glu	0					OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	p.D870E	NM_020841.4	NP_065892.1	1	2	3	2.002308	Q9BZF1	OSBL8_HUMAN		24	3089	-			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	1	1	hg19	c.2610C>A	CCDS31862.1	1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578119	0.28180	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.29142	1.6;1.58;1.6	6.06	4.2	0.49525	6.06	4.2	0.49525	.	2.308210	0.00932	N	0.002729	T	0.23492	0.0568	N	0.24115	0.695	0.37192	D	0.903997	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-8.2239	11.7761	0.51987	0.064:0.0:0.8122:0.1238	.	870	Q9BZF1	OSBL8_HUMAN	E	828;870;855;828	ENSP00000376939:D828E;ENSP00000261183:D870E;ENSP00000376940:D828E	ENSP00000261183:D870E	D	-	3	2	2	OSBPL8	75273860	75273860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	0.856000	0.35383	0.655000	0.94253	GAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_020841			35	34		198	194	1		1	1		0	0	46	0		1	1	0	37	0	177	0	35	198
OSBPL8	114882	broad.mit.edu	37	12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	368					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393																																						ENST00000261183.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1102-1104)Cct>Tct		oxysterol binding protein-like 8							256.0	217.0	230.0					12																	76784265		2203	4300	6503	SO:0001583	missense	114882	0	0					g.chr12:76784265G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1102C>T	chr12.hg19:g.76784265G>A	ENSP00000261183:p.Pro368Ser	0					OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	p.P368S	NM_020841.4	NP_065892.1	1	2	3	2.002308	Q9BZF1	OSBL8_HUMAN		11	1581	-			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	1	1	hg19	c.1102C>T	CCDS31862.1	1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306712	0.23736	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.41758	1.55;1.54;1.55;0.99;1.0	5.48	4.59	0.56863	5.48	4.59	0.56863	.	0.181563	0.49305	D	0.000143	T	0.24470	0.0593	N	0.08118	0	0.49582	D	0.999806	B;B	0.22851	0.009;0.076	B;B	0.13407	0.009;0.008	T	0.03231	-1.1058	10	0.25106	T	0.35	-15.2772	15.7765	0.78224	0.0:0.0:0.8627:0.1373	.	343;368	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	326;368;353;326;368;368;343	ENSP00000376939:P326S;ENSP00000261183:P368S;ENSP00000376940:P326S;ENSP00000450238:P368S;ENSP00000447893:P343S	ENSP00000261183:P368S	P	-	1	0	0	OSBPL8	75308396	75308396	1.000000	0.71417	0.979000	0.43373	0.615000	0.37417	2.702000	0.47102	1.309000	0.44985	-0.158000	0.13435	CCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_020841			109	102		438	428	1		1	1		0	0	138	0		1	1	0	29	0	150	0	109	438
ZDHHC17	23390	broad.mit.edu	37	12	77208931	77208931	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77208931A>G	ENST00000426126.2	+	6	1198	c.549A>G	c.(547-549)gtA>gtG	p.V183V	ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	183					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATCAGGATGTAGATATGATGG	0.308																																						ENST00000426126.2	1.000000	0.310000	1	5.900000e-01	0.990000	0.849331	0.990000	1.000000																										0				23						c.(547-549)gtA>gtG		zinc finger, DHHC-type containing 17							42.0	40.0	41.0					12																	77208931		1810	4059	5869	SO:0001819	synonymous_variant	23390	0	0					g.chr12:77208931A>G	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.549A>G	chr12.hg19:g.77208931A>G		0					ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	p.V183V	NM_015336.2	NP_056151.2	1	2	3	2.002308	Q8IUH5	ZDH17_HUMAN		6	1198	+			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	0	1	hg19	c.549A>G	CCDS44946.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-8.147993	1	0.170000	NM_015336			3	3		34	34	0		1	1		0	0	8	0		8.126761e-01	8.625708e-01	0	2	0	42	0	3	34
ZDHHC17	23390	broad.mit.edu	37	12	77239492	77239492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	ENST00000426126.2	+	13	1982	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	445					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAACAGATACGAAAACCGGT	0.338																																						ENST00000426126.2	1.000000	0.470000	9.000000e-01	5.800000e-01	0.710000	0.737039	0.710000	0.690000																										0				23						c.(1333-1335)Cga>Tga		zinc finger, DHHC-type containing 17							153.0	148.0	150.0					12																	77239492		1848	4087	5935	SO:0001587	stop_gained	23390	0	0					g.chr12:77239492C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1333C>T	chr12.hg19:g.77239492C>T	ENSP00000403397:p.Arg445*	0					ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*	p.R445*	NM_015336.2	NP_056151.2	1	2	3	2.002308	Q8IUH5	ZDH17_HUMAN		13	1982	+			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Nonsense_Mutation	SNP	ENST00000426126.2	0	1	hg19	c.1333C>T	CCDS44946.1	0	.	.	.	.	.	.	.	.	.	.	C	45	11.485754	0.99567	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.067675	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0498	14.5436	0.68013	0.1464:0.8536:0.0:0.0	.	.	.	.	X	445	.	ENSP00000334868:R445X	R	+	1	2	2	ZDHHC17	75763623	75763623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.723000	0.93209	0.650000	0.86243	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	0	0	0		2	4	2	1		1	0	84		84	83	1	2.060000	-5.952173	1	0.170000	NM_015336			26	26		411	403	0		1	0		1	0	84	0		9.999999e-01	2.752699e-01	0	2	0	41	0	26	411
ZDHHC17	23390	broad.mit.edu	37	12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	456					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363																																						ENST00000426126.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1366-1368)Tgc>Cgc		zinc finger, DHHC-type containing 17							192.0	191.0	191.0					12																	77239525		1877	4100	5977	SO:0001583	missense	23390	0	0					g.chr12:77239525T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1366T>C	chr12.hg19:g.77239525T>C	ENSP00000403397:p.Cys456Arg	0					ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R	p.C456R	NM_015336.2	NP_056151.2	1	2	3	2.002308	Q8IUH5	ZDH17_HUMAN		13	2015	+			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	1	1	hg19	c.1366T>C	CCDS44946.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796274	0.90453	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.62364	0.03;0.03	5.48	5.48	0.80851	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.085644	0.85682	D	0.000000	D	0.84524	0.5491	H	0.97131	3.945	0.80722	D	1	P	0.50943	0.94	P	0.59761	0.863	D	0.89798	0.3973	10	0.87932	D	0	-9.4291	15.861	0.79021	0.0:0.0:0.0:1.0	.	456	Q8IUH5	ZDH17_HUMAN	R	456	ENSP00000403397:C456R;ENSP00000334868:C456R	ENSP00000334868:C456R	C	+	1	0	0	ZDHHC17	75763656	75763656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.860000	0.86993	2.198000	0.70561	0.528000	0.53228	TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	1	0	0		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_015336			79	78		428	419	1		1	1		0	0	102	0		1	9.963600e-01	0	6	0	42	0	79	428
E2F7	144455	broad.mit.edu	37	12	77423632	77423632	+	Silent	SNP	C	C	T	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	621					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)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0					ENST00000322886.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1861-1863)ccG>ccA		E2F transcription factor 7		C		3,4403	6.2+/-15.9	0,3,2200	103.0	95.0	98.0		1863	-9.9	0.0	12	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	E2F7	NM_203394.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		621/912	77423632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	144455	12	121412	42				g.chr12:77423632C>T	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.1863G>A	chr12.hg19:g.77423632C>T		0					E2F7_ENST00000416496.2_Silent_p.P621P	p.P621P	NM_203394.2	NP_976328.2	1	2	3	2.002308	Q96AV8	E2F7_HUMAN		10	2098	-			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	1	1	hg19	c.1863G>A	CCDS9016.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	XM_084871			66	64		305	297	1		1	1		0	0	78	0		1	7.744320e-01	0	5	0	10	0	66	305
E2F7	144455	broad.mit.edu	37	12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	286					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)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393																																						ENST00000322886.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(856-858)tCt>tTt		E2F transcription factor 7							133.0	119.0	124.0					12																	77438548		2203	4300	6503	SO:0001583	missense	144455	0	0					g.chr12:77438548G>A	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.857C>T	chr12.hg19:g.77438548G>A	ENSP00000323246:p.Ser286Phe	0					E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	p.S286F	NM_203394.2	NP_976328.2	1	2	3	2.002308	Q96AV8	E2F7_HUMAN		6	1092	-			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	1	1	hg19	c.857C>T	CCDS9016.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077982|5.077982	0.94000|0.94000	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.41400	.|1.2;1.0;1.01	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82579|0.82579	-0.0387|-0.0387	5|10	.|0.87932	.|D	.|0	-18.3452|-18.3452	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q96AV8	.|E2F7_HUMAN	F|F	164|286	.|ENSP00000323246:S286F;ENSP00000393639:S286F;ENSP00000448245:S286F	.|ENSP00000323246:S286F	L|S	-|-	1|2	0|0	0|0	E2F7|E2F7	75962679|75962679	75962679|75962679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	XM_084871			80	79		365	356	1		1	1		0	0	68	0		1	6.161846e-01	0	6	0	5	0	80	365
NAV3	89795	broad.mit.edu	37	12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	537						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTCCAACAGTAAAGCAAAC	0.463										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				236						c.(1609-1611)Gta>Ata		neuron navigator 3							60.0	59.0	59.0					12																	78400927		1897	4119	6016	SO:0001583	missense	89795	0	0					g.chr12:78400927G>A	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.1609G>A	chr12.hg19:g.78400927G>A	ENSP00000381007:p.Val537Ile	0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I	p.V537I			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		8	1782	+			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	1	1	hg19	c.1609G>A		1	.	.	.	.	.	.	.	.	.	.	G	6.345	0.431745	0.12045	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.29	3.38	0.38709	5.29	3.38	0.38709	.	0.185424	0.25341	U	0.031368	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14805	0.011;0.0	B;B	0.12156	0.007;0.0	T	0.20806	-1.0264	10	0.40728	T	0.16	-2.8455	15.5497	0.76141	0.0:0.406:0.594:0.0	.	537;537	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	537	ENSP00000446628:V537I;ENSP00000446132:V537I;ENSP00000381007:V537I;ENSP00000228327:V537I;ENSP00000266692:V537I	ENSP00000228327:V537I	V	+	1	0	0	NAV3	76925058	76925058	0.753000	0.28349	0.097000	0.21041	0.126000	0.20510	3.321000	0.51999	0.555000	0.29079	0.650000	0.86243	GTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001024383			44	43		237	232	1		1	0		0	0	52	0		1	3.706618e-01	0	1	0	7	0	44	237
NAV3	89795	broad.mit.edu	37	12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	896						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTTGATAACATCAGCACT	0.478										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				236						c.(2686-2688)aAc>aCc		neuron navigator 3							178.0	169.0	172.0					12																	78510602		2105	4253	6358	SO:0001583	missense	89795	0	0					g.chr12:78510602A>C	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.2687A>C	chr12.hg19:g.78510602A>C	ENSP00000381007:p.Asn896Thr	0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T	p.N896T			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		13	2860	+			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	1	1	hg19	c.2687A>C		1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942704	0.73672	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.64618	0.89;0.93;0.9;-0.11	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.43260	U	0.000582	T	0.79112	0.4391	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.98;0.992;0.995	T	0.81765	-0.0783	10	0.87932	D	0	-25.6081	15.9877	0.80174	1.0:0.0:0.0:0.0	.	896;896;896	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	896	ENSP00000446132:N896T;ENSP00000381007:N896T;ENSP00000228327:N896T;ENSP00000266692:N896T	ENSP00000228327:N896T	N	+	2	0	0	NAV3	77034733	77034733	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.300000	0.96151	2.165000	0.68154	0.455000	0.32223	AAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_001024383			70	67		329	320	1		1	0		0	0	85	0		1	1.474726e-01	0	0	0	4	0	70	329
NAV3	89795	broad.mit.edu	37	12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1536	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATTCGGGCTCATTCAGAGA	0.488										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.190000	5.000000e-01	2.600000e-01	0.360000	0.407567	0.360000	0.330000																										0				236						c.(4606-4608)Tca>Cca		neuron navigator 3							84.0	83.0	84.0					12																	78531121		1908	4133	6041	SO:0001583	missense	89795	0	0					g.chr12:78531121T>C	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.4606T>C	chr12.hg19:g.78531121T>C	ENSP00000381007:p.Ser1536Pro	0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P	p.S1536P			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		19	4779	+			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	1	1	hg19	c.4606T>C		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.510893|4.510893	0.85389|0.85389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.35605	.|1.3;1.31;1.37;1.38;2.16	5.87|5.87	5.87|5.87	0.94306|0.94306	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.34268	.|U	.|0.004102	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.997;0.997	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-10.6286|-10.6286	16.2736|16.2736	0.82632|0.82632	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1536;1359;1536;1536	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	P|P	430|1536;1536;1536;1359;157;165	.|ENSP00000446132:S1536P;ENSP00000381007:S1536P;ENSP00000228327:S1536P;ENSP00000266692:S1359P;ENSP00000448303:S165P	.|ENSP00000228327:S1536P	L|S	+|+	2|1	0|0	0|0	NAV3|NAV3	77055252|77055252	77055252|77055252	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.737000|0.737000	0.42083|0.42083	7.719000|7.719000	0.84751|0.84751	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	CTC|TCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	0	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-11.678360	1	0.170000	NM_001024383			12	12		401	396	0		1	0		0	0	83	0		9.990780e-01	2.556285e-02	0	0	0	8	0	12	401
NAV3	89795	broad.mit.edu	37	12	78571064	78571064	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGGCTCAGCATCCATGAAGC	0.433										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				236						c.(5266-5268)gcA>gcG		neuron navigator 3							117.0	107.0	110.0					12																	78571064		1904	4137	6041	SO:0001819	synonymous_variant	89795	0	0					g.chr12:78571064A>G	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.5268A>G	chr12.hg19:g.78571064A>G		0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A	p.A1756A			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		27	5441	+			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	1	1	hg19	c.5268A>G		1	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397454	0.01175	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	-4.39	0.03611	5.95	-4.39	0.03611	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.32552	N	0.532221	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	0.4945	6.924	0.24403	0.4447:0.324:0.2312:0.0	.	.	.	.	V	651	.	.	I	+	1	0	0	NAV3	77095195	77095195	0.001000	0.12720	0.008000	0.14137	0.217000	0.24651	-0.203000	0.09438	-0.648000	0.05437	-1.063000	0.02288	ATC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_001024383			106	105		411	403	1		1	1		0	0	136	0		1	2.749228e-01	0	3	0	2	0	106	411
NAV3	89795	broad.mit.edu	37	12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2042						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAAAGGTACTTTAACTTGT	0.358										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				236						c.(6124-6126)taC>taA		neuron navigator 3							106.0	98.0	101.0					12																	78583834		1925	4150	6075	SO:0001587	stop_gained	89795	0	0					g.chr12:78583834C>A	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.6126C>A	chr12.hg19:g.78583834C>A	ENSP00000381007:p.Tyr2042*	0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000552300.1_3'UTR	p.Y2042*			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		34	6299	+			Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	0	1	hg19	c.6126C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.205461|13.205461	0.99727|0.99727	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.03|5.03	3.13|3.13	0.36017|0.36017	5.03|5.03	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36703	.|U	.|0.002448	T|.	0.30885|.	0.0779|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-6.2545|-6.2545	10.4374|10.4374	0.44443|0.44443	0.0:0.8325:0.0:0.1675|0.0:0.8325:0.0:0.1675	.|.	.|.	.|.	.|.	I|X	915|2020;2042;2020;1843;634;642	.|.	.|ENSP00000228327:Y2020X	L|Y	+|+	1|3	0|2	0|2	NAV3|NAV3	77107965|77107965	77107965|77107965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.117000|2.117000	0.41939|0.41939	0.575000|0.575000	0.29434|0.29434	0.655000|0.655000	0.94253|0.94253	CTT|TAC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_001024383			62	60		357	356	1		1	0		0	0	108	0		1	4.528881e-01	0	0	0	10	0	62	357
NAV3	89795	broad.mit.edu	37	12	78604210	78604210	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000541270.1_Silent_p.A187A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGCAGCCAATTACTCGA	0.418										HNSCC(70;0.22)																												ENST00000397909.2	1.000000	0.260000	7.000000e-01	3.600000e-01	0.500000	0.539515	0.500000	0.460000																										0				236						c.(7069-7071)gcC>gcA		neuron navigator 3							60.0	62.0	61.0					12																	78604210		1955	4178	6133	SO:0001819	synonymous_variant	89795	0	0					g.chr12:78604210C>A	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.7071C>A	chr12.hg19:g.78604210C>A		0	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000541270.1_Silent_p.A187A	p.A2357A			1	2	3	2.002308	Q8IVL0	NAV3_HUMAN		40	7244	+			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	1	1	hg19	c.7071C>A		0	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816605	0.16607	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73678	-0.3907	4	.	.	.	-16.4759	19.0721	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	K	1230;225	.	.	Q	+	1	0	0	NAV3	77128341	77128341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.021000	0.30040	2.520000	0.84964	0.655000	0.94253	CAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-12.380900	1	0.170000	NM_001024383			11	11		262	257	0		1	0		0	0	56	0		9.982563e-01	9.733472e-02	0	0	0	12	0	11	262
MYF6	4618	broad.mit.edu	37	12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	170					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562																																						ENST00000228641.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(508-510)aAa>aCa		myogenic factor 6 (herculin)							31.0	35.0	34.0					12																	81102007		2198	4294	6492	SO:0001583	missense	4618	0	0					g.chr12:81102007A>C		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.509A>C	chr12.hg19:g.81102007A>C	ENSP00000228641:p.Lys170Thr	0						p.K170T	NM_002469.2	NP_002460.1	1	2	3	2.002308	P23409	MYF6_HUMAN		1	731	+			B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	1	1	hg19	c.509A>C	CCDS9019.1	1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750526	0.31046	.	.	ENSG00000111046	ENST00000228641	D	0.96104	-3.91	5.95	5.95	0.96441	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (1);	0.199532	0.51477	D	0.000089	D	0.93936	0.8059	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	B	0.43508	0.422	D	0.92617	0.6104	10	0.12766	T	0.61	-20.4436	16.0971	0.81132	1.0:0.0:0.0:0.0	.	170	P23409	MYF6_HUMAN	T	170	ENSP00000228641:K170T	ENSP00000228641:K170T	K	+	2	0	0	MYF6	79626138	79626138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.761000	0.74945	2.279000	0.76181	0.533000	0.62120	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_002469			65	63		281	276	1		1	0		0	0	54	0		1	0	0	0	0	1	0	65	281
LIN7A	8825	broad.mit.edu	37	12	81205351	81205351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81205351G>A	ENST00000552864.1	-	5	797	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	199					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTTTCAAAGCGAGCCTCCATT	0.498																																						ENST00000552864.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(595-597)Cgc>Tgc		lin-7 homolog A (C. elegans)							107.0	94.0	98.0					12																	81205351		2203	4300	6503	SO:0001583	missense	8825	0	0					g.chr12:81205351G>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.595C>T	chr12.hg19:g.81205351G>A	ENSP00000447488:p.Arg199Cys	0						p.R199C	NM_004664.2	NP_004655.1	1	2	3	2.002308	O14910	LIN7A_HUMAN		5	797	-			A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	1	0	hg19	c.595C>T	CCDS9021.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332630	0.81801	.	.	ENSG00000111052	ENST00000552864	T	0.20881	2.04	5.28	4.39	0.52855	5.28	4.39	0.52855	PDZ/DHR/GLGF (1);	0.050845	0.85682	D	0.000000	T	0.37404	0.1002	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.16394	-1.0404	10	0.87932	D	0	-9.3904	13.9247	0.63955	0.0733:0.0:0.9267:0.0	.	199	O14910	LIN7A_HUMAN	C	199	ENSP00000447488:R199C	ENSP00000447488:R199C	R	-	1	0	0	LIN7A	79729482	79729482	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.874000	0.87199	1.234000	0.43709	0.591000	0.81541	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.296983	1	0.170000				40	40		192	186	0		1	0		0	0	42	0		1	6.849828e-01	0	0	0	13	0	40	192
ACSS3	79611	broad.mit.edu	37	12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	56						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711																																						ENST00000548058.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				51						c.(166-168)tCc>tTc		acyl-CoA synthetase short-chain family member 3							19.0	19.0	19.0					12																	81472066		2067	4099	6166	SO:0001583	missense	79611	0	0					g.chr12:81472066C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.167C>T	chr12.hg19:g.81472066C>T	ENSP00000449535:p.Ser56Phe	0					ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F	p.S56F			1	2	3	2.002308	Q9H6R3	ACSS3_HUMAN		1	1077	+			Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	1	1	hg19	c.167C>T	CCDS9022.1	1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097479	0.37048	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27402	1.67;1.67	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.685773	0.12714	N	0.445308	T	0.25344	0.0616	N	0.08118	0	0.80722	D	1	P	0.36789	0.57	P	0.48114	0.567	T	0.03240	-1.1057	10	0.09590	T	0.72	-7.6315	14.7846	0.69793	0.0:1.0:0.0:0.0	.	56	Q9H6R3	ACSS3_HUMAN	F	56	ENSP00000449535:S56F;ENSP00000261206:S56F	ENSP00000261206:S56F	S	+	2	0	0	ACSS3	79996197	79996197	0.082000	0.21442	0.039000	0.18376	0.020000	0.10135	3.245000	0.51407	2.470000	0.83445	0.655000	0.94253	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000	NM_024560			39	38		190	187	1		1	0		0	0	32	0		1	7.825893e-01	0	0	0	16	0	39	190
ACSS3	79611	broad.mit.edu	37	12	81536950	81536950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81536950C>T	ENST00000548058.1	+	5	1755	c.845C>T	c.(844-846)tCa>tTa	p.S282L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	282						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAAGCCCAGTCACATGACTGT	0.438																																						ENST00000548058.1	1.000000	0.140000	4.900000e-01	2.100000e-01	0.320000	0.376751	0.320000	0.290000																										0				51						c.(844-846)tCa>tTa		acyl-CoA synthetase short-chain family member 3							130.0	117.0	122.0					12																	81536950		2203	4300	6503	SO:0001583	missense	79611	0	0					g.chr12:81536950C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.845C>T	chr12.hg19:g.81536950C>T	ENSP00000449535:p.Ser282Leu	0					ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L	p.S282L			1	2	3	2.002308	Q9H6R3	ACSS3_HUMAN		5	1755	+			Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	0	1	hg19	c.845C>T	CCDS9022.1	0	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293466	0.80914	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10288	2.89;2.89	5.58	5.58	0.84498	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.166220	0.56097	D	0.000033	T	0.09423	0.0232	N	0.21142	0.635	0.80722	D	1	P	0.43231	0.801	B	0.38106	0.265	T	0.06679	-1.0813	10	0.59425	D	0.04	-9.6296	16.441	0.83901	0.0:0.8602:0.1398:0.0	.	282	Q9H6R3	ACSS3_HUMAN	L	282;281	ENSP00000449535:S282L;ENSP00000261206:S281L	ENSP00000261206:S281L	S	+	2	0	0	ACSS3	80061081	80061081	0.666000	0.27475	0.998000	0.56505	0.994000	0.84299	2.658000	0.46733	2.797000	0.96272	0.561000	0.74099	TCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-7.921228	1	0.170000	NM_024560			7	7		270	267	0		1	0		0	0	65	0		9.802152e-01	2.240001e-01	0	0	0	31	0	7	270
PPFIA2	8499	broad.mit.edu	37	12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000549396.1	-	30	3652	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1164S	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	1164	SAM 3. {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)				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						CAAGAATCTGCCTTGCCTGTT	0.358																																						ENST00000549396.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				85						c.(3490-3492)agG>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							107.0	97.0	100.0					12																	81660794		1840	4088	5928	SO:0001583	missense	8499	0	0					g.chr12:81660794C>A	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.3492G>T	chr12.hg19:g.81660794C>A	ENSP00000450337:p.Arg1164Ser	0					PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1164S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S	p.R1164S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	1	2	3	2.002308	O75334	LIPA2_HUMAN		30	3652	-			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	1	1	hg19	c.3492G>T	CCDS55857.1	1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485167	0.63962	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.37	2.16	0.27623	5.37	2.16	0.27623	.	0.235047	0.29830	N	0.011096	D	0.95582	0.8564	H	0.95187	3.635	0.51482	D	0.999923	.	.	.	.	.	.	D	0.94882	0.8040	8	0.72032	D	0.01	-0.6131	9.5769	0.39463	0.0:0.6552:0.0:0.3448	.	.	.	.	S	1164;1149;700;350;1063;1177;1152;1158;1059;1143	ENSP00000450337:R1164S;ENSP00000450298:R1149S;ENSP00000438337:R700S;ENSP00000445532:R350S;ENSP00000385093:R1063S;ENSP00000327416:R1152S;ENSP00000449338:R1158S;ENSP00000388373:R1059S;ENSP00000447868:R1143S	ENSP00000327416:R1152S	R	-	3	2	2	PPFIA2	80184925	80184925	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	0.658000	0.30925	0.563000	0.77884	AGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				19	18		82	81	1		1	0		0	0	19	0		9.999945e-01	7.994253e-01	0	0	0	15	0	19	82
PPFIA2	8499	broad.mit.edu	37	12	81661781	81661781	+	Silent	SNP	G	G	A	rs376867920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000549396.1	-	29	3556	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000550584.2_Silent_p.S1132S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000549325.1_Silent_p.S1117S	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	1132	SAM 3. {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)				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						CATGCACACCGCTCTCAAGTA	0.428																																						ENST00000549396.1	1.000000	0.940000	1	9.900000e-01	0.990000	0.995590	0.990000	1.000000																										0				85						c.(3394-3396)agC>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2		G	,,,,,,,,	0,3794		0,0,1897	93.0	88.0	89.0		3396,3351,3333,3378,3093,3081,2004,954,3396	-2.7	1.0	12		89	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,1,6048	AA,AG,GG		0.012,0.0,0.0083	,,,,,,,,	1132/1248,1117/1233,1111/1237,1126/1252,1031/1157,1027/1153,668/784,318/444,1132/1258	81661781	1,12097	1897	4152	6049	SO:0001819	synonymous_variant	8499	1	120760	35				g.chr12:81661781G>A	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.3396C>T	chr12.hg19:g.81661781G>A		0					PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Silent_p.S1132S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000541017.1_Silent_p.S318S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000407050.4_Silent_p.S1031S	p.S1132S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	1	2	3	2.002308	O75334	LIPA2_HUMAN		29	3556	-			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	0	1	hg19	c.3396C>T	CCDS55857.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-3.341663	1	0.170000				10	10		53	53	1		1	0		0	0	13	0		9.976685e-01	8.563491e-01	0	0	0	21	0	10	53
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000549396.1	-	21	2693	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000549325.1_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																																						ENST00000549396.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R845*(1)	large_intestine(1)	85						c.(2533-2535)Cga>Tga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							197.0	195.0	196.0					12																	81732974		1863	4103	5966	SO:0001587	stop_gained	8499	0	0					g.chr12:81732974G>A	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	chr12.hg19:g.81732974G>A	ENSP00000450337:p.Arg845*	0					PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*	p.R845*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	1	2	3	2.002308	O75334	LIPA2_HUMAN		21	2693	-			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	0	1	hg19	c.2533C>T	CCDS55857.1	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	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	2|0	PPFIA2|PPFIA2	80257105|80257105	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	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1		20	2	2	0		0	1	128		128	124	1	2.060000	-20.000000	1	0.170000				141	139		620	601	1		1	0		0	0	128	0		1	9.064573e-01	0	0	0	20	0	141	620
TMTC2	160335	broad.mit.edu	37	12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000321196.3	+	3	2005	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R|TMTC2_ENST00000549919.1_Missense_Mutation_p.L427R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	433					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393																																						ENST00000321196.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1297-1299)cTa>cGa		transmembrane and tetratricopeptide repeat containing 2							115.0	111.0	113.0					12																	83290240		2203	4300	6503	SO:0001583	missense	160335	0	0					g.chr12:83290240T>G	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.1298T>G	chr12.hg19:g.83290240T>G	ENSP00000322300:p.Leu433Arg	0					TMTC2_ENST00000549919.1_Missense_Mutation_p.L427R|TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R	p.L433R	NM_152588.1	NP_689801.1	1	2	3	2.002308	Q8N394	TMTC2_HUMAN		3	2005	+			B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	1	1	hg19	c.1298T>G	CCDS9025.1	1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869647	0.72065	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.988;0.99;0.988	T	0.78193	-0.2299	10	0.66056	D	0.02	-14.4338	16.2652	0.82574	0.0:0.0:0.0:1.0	.	433;188;433	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	433;433;427;188	ENSP00000322300:L433R;ENSP00000448292:L433R;ENSP00000447609:L427R	ENSP00000322300:L433R	L	+	2	0	0	TMTC2	81814371	81814371	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	CTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_152588			90	88		385	380	1		1	1		0	0	86	0		1	9.965602e-01	0	22	0	17	0	90	385
SLC6A15	55117	broad.mit.edu	37	12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000266682.5	-	12	2534	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	665					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)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413																																						ENST00000266682.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1993-1995)Gag>Tag		solute carrier family 6 (neutral amino acid transporter), member 15							121.0	122.0	122.0					12																	85255611		2203	4300	6503	SO:0001587	stop_gained	55117	0	0					g.chr12:85255611C>A	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.1993G>T	chr12.hg19:g.85255611C>A	ENSP00000266682:p.Glu665*	0					SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*	p.E665*	NM_182767.5	NP_877499.1	1	2	3	2.002308	Q9H2J7	S6A15_HUMAN		12	2534	-			A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	0	1	hg19	c.1993G>T	CCDS9026.1	1	.	.	.	.	.	.	.	.	.	.	C	40	7.971531	0.98588	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.85	4.94	0.65067	5.85	4.94	0.65067	.	0.246459	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.8652	0.86027	0.0:0.8717:0.1283:0.0	.	.	.	.	X	665;558;143	.	ENSP00000266682:E665X	E	-	1	0	0	SLC6A15	83779742	83779742	1.000000	0.71417	0.939000	0.37840	0.988000	0.76386	7.364000	0.79526	1.417000	0.47077	0.655000	0.94253	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_018057, NM_182767			111	110		463	457	1		1	0		0	0	108	0		1	0	0	0	0	1	0	111	463
LRRIQ1	84125	broad.mit.edu	37	12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	297	Glu-rich.|IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.									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)		ATATAAAGCATTTGTTGCCTA	0.299																																						ENST00000393217.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.988167	0.990000	1.000000																										0				83						c.(889-891)Ttt>Gtt		leucine-rich repeats and IQ motif containing 1							29.0	33.0	32.0					12																	85449460		2199	4290	6489	SO:0001583	missense	84125	0	0					g.chr12:85449460T>G	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.889T>G	chr12.hg19:g.85449460T>G	ENSP00000376910:p.Phe297Val	0						p.F297V	NM_001079910.1	NP_001073379.1	1	2	3	2.002308	Q96JM4	LRIQ1_HUMAN		8	950	+			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	1	1	hg19	c.889T>G	CCDS41816.1	1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429297	0.25726	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.616553	0.17259	N	0.180844	T	0.57932	0.2087	L	0.43923	1.385	0.28572	N	0.910581	D;P	0.63880	0.993;0.773	P;B	0.53954	0.738;0.162	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.7459	0.62874	0.0:0.0:0.0:1.0	.	297;272	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	297;272;297	ENSP00000376910:F297V	ENSP00000256007:F297V	F	+	1	0	0	LRRIQ1	83973591	83973591	0.367000	0.25023	0.540000	0.28089	0.191000	0.23601	2.868000	0.48436	2.004000	0.58718	0.260000	0.18958	TTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-8.597831	1	0.170000	NM_032165			13	13		95	91	1		1	0		0	0	46	0		9.995454e-01	4.668305e-02	0	0	0	3	0	13	95
LRRIQ1	84125	broad.mit.edu	37	12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1421	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.									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)		GCTCTAGAGGCTATTAAGAAT	0.308																																						ENST00000393217.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4261-4263)gCt>gAt		leucine-rich repeats and IQ motif containing 1							117.0	109.0	112.0					12																	85531680		1795	4073	5868	SO:0001583	missense	84125	0	0					g.chr12:85531680C>A	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.4262C>A	chr12.hg19:g.85531680C>A	ENSP00000376910:p.Ala1421Asp	0						p.A1421D	NM_001079910.1	NP_001073379.1	1	2	3	2.002308	Q96JM4	LRIQ1_HUMAN		19	4323	+			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	1	1	hg19	c.4262C>A	CCDS41816.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784353	0.70222	.	.	ENSG00000133640	ENST00000393217	T	0.55760	0.5	5.56	4.66	0.58398	5.56	4.66	0.58398	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.36221	D	0.851972	D	0.53312	0.959	B	0.43623	0.425	T	0.49437	-0.8940	9	0.42905	T	0.14	.	10.6427	0.45602	0.1322:0.7979:0.0:0.0699	.	1421	Q96JM4	LRIQ1_HUMAN	D	1421	ENSP00000376910:A1421D	ENSP00000376910:A1421D	A	+	2	0	0	LRRIQ1	84055811	84055811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	1.333000	0.45449	0.650000	0.86243	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_032165			86	85		376	371	1		1	0		0	0	78	0		1	2.378744e-01	0	0	0	5	0	86	376
LRRIQ1	84125	broad.mit.edu	37	12	85554402	85554402	+	Missense_Mutation	SNP	C	C	T	rs10161468	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85554402C>T	ENST00000393217.2	+	24	4793	c.4732C>T	c.(4732-4734)Cgt>Tgt	p.R1578C	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1578										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)		TTCCACTGTGCGTCTAGCCTT	0.358													C|||	19	0.00379393	0.0144	0.0	5008	,	,		13717	0.0		0.0	False		,,,				2504	0.0					ENST00000393217.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0				83						c.(4732-4734)Cgt>Tgt		leucine-rich repeats and IQ motif containing 1		C	CYS/ARG	39,3609		0,39,1785	121.0	109.0	113.0		4732	2.7	0.0	12	dbSNP_119	113	1,8173		0,1,4086	yes	missense	LRRIQ1	NM_001079910.1	180	0,40,5871	TT,TC,CC		0.0122,1.0691,0.3384	benign	1578/1723	85554402	40,11782	1824	4087	5911	SO:0001583	missense	84125	138	120784	53				g.chr12:85554402C>T	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.4732C>T	chr12.hg19:g.85554402C>T	ENSP00000376910:p.Arg1578Cys	0					LRRIQ1_ENST00000528777.3_3'UTR	p.R1578C	NM_001079910.1	NP_001073379.1	1	2	3	2.002308	Q96JM4	LRIQ1_HUMAN		24	4793	+			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	1	0	hg19	c.4732C>T	CCDS41816.1	1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	7.164	0.586225	0.13749	0.010691	1.22E-4	ENSG00000133640	ENST00000393217	T	0.69040	-0.37	4.63	2.73	0.32206	4.63	2.73	0.32206	.	.	.	.	.	T	0.31071	0.0785	L	0.27053	0.805	0.39311	D	0.965074	B	0.32800	0.385	B	0.20767	0.031	T	0.33240	-0.9876	9	0.56958	D	0.05	.	9.0639	0.36451	0.1471:0.775:0.0:0.0779	rs10161468;rs10161468	1578	Q96JM4	LRIQ1_HUMAN	C	1578	ENSP00000376910:R1578C	ENSP00000376910:R1578C	R	+	1	0	0	LRRIQ1	84078533	84078533	0.999000	0.42202	0.025000	0.17156	0.476000	0.33039	0.585000	0.23879	0.442000	0.26555	0.557000	0.71058	CGT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.138871	1	0.170000	NM_032165			35	34		219	212	1		1			0	0	80	0		1	0	0	0	0	0	0	35	219
LRRIQ1	84125	broad.mit.edu	37	12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1651										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)		GAAATATGAAATGGTGAGGTC	0.338																																						ENST00000393217.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4951-4953)aaA>aaT		leucine-rich repeats and IQ motif containing 1							82.0	77.0	79.0					12																	85623425		1828	4076	5904	SO:0001583	missense	84125	0	0					g.chr12:85623425A>T	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.4953A>T	chr12.hg19:g.85623425A>T	ENSP00000376910:p.Lys1651Asn	0					LRRIQ1_ENST00000528777.3_3'UTR	p.K1651N	NM_001079910.1	NP_001073379.1	1	2	3	2.002308	Q96JM4	LRIQ1_HUMAN		25	5014	+			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	1	1	hg19	c.4953A>T	CCDS41816.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.816446|2.816446	0.50527|0.50527	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.54279|.	0.58|.	5.6|5.6	5.6|5.6	0.85130|0.85130	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.34800|0.34800	-0.9814|-0.9814	9|5	0.59425|.	D|.	0.04|.	.|.	9.4014|9.4014	0.38435|0.38435	0.9132:0.0:0.0868:0.0|0.9132:0.0:0.0868:0.0	.|.	1651|.	Q96JM4|.	LRIQ1_HUMAN|.	N|I	1651|72	ENSP00000376910:K1651N|.	ENSP00000376910:K1651N|.	K|N	+|+	3|2	2|0	2|0	LRRIQ1|LRRIQ1	84147556|84147556	84147556|84147556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.872000|2.872000	0.48467|0.48467	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AAA|AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_032165			61	60		256	252	1		1	0		0	0	66	0		1	3.802570e-02	0	1	0	1	0	61	256
ALX1	8092	broad.mit.edu	37	12	85695100	85695100	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	276					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.P276P(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)		GCCACGTGCCCCTCAACAATT	0.478																																						ENST00000316824.3	1.000000	0.660000	1	7.700000e-01	0.900000	0.894466	0.900000	1.000000																										1	Substitution - coding silent(1)	p.P276P(1)	lung(1)	26						c.(826-828)ccC>ccA		ALX homeobox 1							113.0	109.0	110.0					12																	85695100		2203	4299	6502	SO:0001819	synonymous_variant	8092	0	0					g.chr12:85695100C>A	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.828C>A	chr12.hg19:g.85695100C>A		0						p.P276P	NM_006982.2	NP_008913.2	1	2	3	2.002308	Q15699	ALX1_HUMAN		4	983	+			Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	1	1	hg19	c.828C>A	CCDS9028.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-2.329789	0	0.170000	NM_006982			41	38		500	485	0		1	0		0	0	87	0		1	0	0	0	0	1	0	41	500
NTS	4922	broad.mit.edu	37	12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	115					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353																																						ENST00000256010.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(343-345)Gct>Act		neurotensin							72.0	71.0	71.0					12																	86272330		2203	4300	6503	SO:0001583	missense	4922	2	121412	34				g.chr12:86272330G>A		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.343G>A	chr12.hg19:g.86272330G>A	ENSP00000256010:p.Ala115Thr	0					NTS_ENST00000551529.1_Intron	p.A115T	NM_006183.4	NP_006174.1	1	2	3	2.002308	P30990	NEUT_HUMAN		3	450	+				Missense_Mutation	SNP	ENST00000256010.6	1	1	hg19	c.343G>A	CCDS9029.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773904	0.49786	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.294351	0.34750	N	0.003709	T	0.49474	0.1559	L	0.50333	1.59	0.34515	D	0.707496	P	0.39717	0.684	B	0.41036	0.346	T	0.61628	-0.7024	9	0.32370	T	0.25	-2.8639	13.3229	0.60442	0.0757:0.0:0.9243:0.0	.	115	P30990	NEUT_HUMAN	T	115;60	.	ENSP00000256010:A115T	A	+	1	0	0	NTS	84796461	84796461	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.658000	0.46733	2.477000	0.83638	0.563000	0.77884	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				78	77		298	290	1		1			0	0	67	0		1	0	0	0	0	0	0	78	298
C12orf50	160419	broad.mit.edu	37	12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303																																						ENST00000298699.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999500	0.990000	1.000000																										0				34						c.(907-909)tCt>tAt		chromosome 12 open reading frame 50							106.0	106.0	106.0					12																	88380103		2203	4299	6502	SO:0001583	missense	160419	0	0					g.chr12:88380103G>T	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.908C>A	chr12.hg19:g.88380103G>T	ENSP00000298699:p.Ser303Tyr	0					C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	p.S303Y	NM_152589.1	NP_689802.1	1	2	3	2.002308	Q8NA57	CL050_HUMAN		10	1088	-			Q6P674	Missense_Mutation	SNP	ENST00000298699.2	1	1	hg19	c.908C>A	CCDS9031.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173542	0.38413	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.38;1.37	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.547279	0.19009	N	0.125123	T	0.42040	0.1185	L	0.44542	1.39	0.32994	D	0.525332	D;P	0.54964	0.969;0.874	P;B	0.47827	0.558;0.444	T	0.53933	-0.8368	10	0.72032	D	0.01	.	17.4379	0.87557	0.0:0.0:1.0:0.0	.	318;303	G3V208;Q8NA57	.;CL050_HUMAN	Y	303;264;318	ENSP00000298699:S303Y;ENSP00000448344:S264Y	ENSP00000298699:S303Y	S	-	2	0	0	C12orf50	86904234	86904234	0.980000	0.34600	0.891000	0.34965	0.048000	0.14542	2.849000	0.48286	2.861000	0.98227	0.650000	0.86243	TCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.142741	1	0.170000	NM_152589			41	39		296	295	1		1			0	0	48	0		1	0	0	0	0	0	0	41	296
C12orf29	91298	broad.mit.edu	37	12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	105					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358																																						ENST00000356891.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(313-315)Tgg>Cgg		chromosome 12 open reading frame 29							31.0	33.0	32.0					12																	88437384		2202	4300	6502	SO:0001583	missense	91298	0	0					g.chr12:88437384T>C	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.313T>C	chr12.hg19:g.88437384T>C	ENSP00000349358:p.Trp105Arg	0					C12orf29_ENST00000548757.2_3'UTR	p.W105R	NM_001009894.2	NP_001009894.2	1	2	3	2.002308	Q8N999	CL029_HUMAN		4	516	+			Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	1	1	hg19	c.313T>C	CCDS31866.1	1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489869	0.64074	.	.	ENSG00000133641	ENST00000356891	T	0.39592	1.07	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.057827	0.85682	D	0.000000	T	0.43233	0.1238	M	0.73598	2.24	0.80722	D	1	P	0.42620	0.785	B	0.35240	0.198	T	0.53927	-0.8369	10	0.87932	D	0	-22.0648	14.3702	0.66833	0.0:0.0:0.0:1.0	.	105	Q8N999	CL029_HUMAN	R	105	ENSP00000349358:W105R	ENSP00000349358:W105R	W	+	1	0	0	C12orf29	86961515	86961515	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.237000	0.78164	2.189000	0.69895	0.460000	0.39030	TGG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_001009894			27	27		86	85	1		1	1		0	0	25	0		1	9.999923e-01	0	18	0	49	0	27	86
CEP290	80184	broad.mit.edu	37	12	88449353	88449353	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960G>A	c.(6958-6960)caG>caA	p.Q2320Q	CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q|CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2320					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)				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						CGTTACTTACCTGTTGTTCAA	0.294																																						ENST00000552810.1	1.000000	0.540000	1	9.200000e-01	0.990000	0.953849	0.990000	1.000000																										0				73						c.(6958-6960)caG>caA		centrosomal protein 290kDa							208.0	193.0	198.0					12																	88449353		1838	4078	5916	SO:0001630	splice_region_variant	80184	0	0					g.chr12:88449353C>T	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.6960+1G>A	chr12.hg19:g.88449353C>T		0					CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q	p.Q2320Q	NM_025114.3	NP_079390.3	1	2	3	2.002308	O15078	CE290_HUMAN		50	7303	-			Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Splice_Site	SNP	ENST00000552810.1	0	1	hg19	c.6960G>A	CCDS55858.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-5.986057	1	0.170000	NM_025114	Silent		4	4		26	26	0		1	1		0	0	8	0		8.949379e-01	8.949379e-01	0	4	0	26	0	4	26
TMTC3	160418	broad.mit.edu	37	12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	376					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)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353																																						ENST00000266712.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1126-1128)Cga>Tga		transmembrane and tetratricopeptide repeat containing 3							124.0	120.0	122.0					12																	88566449		2203	4300	6503	SO:0001587	stop_gained	160418	2	121404	32				g.chr12:88566449C>T		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.1126C>T	chr12.hg19:g.88566449C>T	ENSP00000266712:p.Arg376*	0						p.R376*	NM_181783.3	NP_861448.2	1	2	3	2.002308	Q6ZXV5	TMTC3_HUMAN		8	1346	+			Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	ENST00000266712.6	0	1	hg19	c.1126C>T	CCDS9032.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.871926	0.97901	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.54	3.68	0.42216	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9127	14.6929	0.69098	0.265:0.735:0.0:0.0	.	.	.	.	X	376	.	ENSP00000266712:R376X	R	+	1	2	2	TMTC3	87090580	87090580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	0.656000	0.30886	0.650000	0.86243	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_181783			83	83		472	459	0		1	0		0	0	82	0		1	9.336495e-01	0	0	0	28	0	83	472
POC1B	282809	broad.mit.edu	37	12	89815013	89815013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	ENST00000313546.3	-	12	1482	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	POC1B_ENST00000393179.4_Nonsense_Mutation_p.R322*|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	452					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398																																						ENST00000313546.3	1.000000	0.360000	1	6.000000e-01	0.940000	0.841993	0.940000	1.000000																										0				14						c.(1354-1356)Cga>Tga		POC1 centriolar protein B							37.0	34.0	35.0					12																	89815013		2203	4300	6503	SO:0001587	stop_gained	282809	2	121372	29				g.chr12:89815013G>A	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.1354C>T	chr12.hg19:g.89815013G>A	ENSP00000323302:p.Arg452*	0					POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Nonsense_Mutation_p.R322*|POC1B_ENST00000541909.1_3'UTR	p.R452*	NM_172240.2	NP_758440.1	1	2	3	2.002308	Q8TC44	POC1B_HUMAN		12	1482	-			G3V1X0	Nonsense_Mutation	SNP	ENST00000313546.3	0	1	hg19	c.1354C>T	CCDS31869.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.725795	0.99248	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	.	.	.	X	322;452;410	.	ENSP00000323302:R452X	R	-	1	2	2	POC1B	88339144	88339144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.692000	0.74578	2.617000	0.88574	0.655000	0.94253	CGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-9.370022	1	0.170000	NM_172240			5	5		62	61	0		1	1		0	0	21	0		9.375765e-01	9.873546e-01	0	5	0	106	0	5	62
POC1B	282809	broad.mit.edu	37	12	89885781	89885781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000549504.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	128					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418																																						ENST00000313546.3	1.000000	0.670000	1	8.200000e-01	0.990000	0.930968	0.990000	1.000000																										0				14						c.(382-384)gtA>gtG		POC1 centriolar protein B							130.0	126.0	127.0					12																	89885781		2203	4300	6503	SO:0001819	synonymous_variant	282809	0	0					g.chr12:89885781T>C	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.384A>G	chr12.hg19:g.89885781T>C		0					POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000541909.1_5'UTR	p.V128V	NM_172240.2	NP_758440.1	1	2	3	2.002308	Q8TC44	POC1B_HUMAN		4	512	-			G3V1X0	Silent	SNP	ENST00000313546.3	1	1	hg19	c.384A>G	CCDS31869.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_172240			29	28		323	317	1		1	1		0	0	75	0		1	9.825553e-01	0	18	0	56	0	29	323
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|ATP2B1_ENST00000359142.3_3'UTR			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					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.S1140L(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						GTTGTGAATCGAACTTCTTGA	0.378																																						ENST00000428670.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S1140L(1)	large_intestine(1)	45						c.(3418-3420)tCg>tTg		ATPase, Ca++ transporting, plasma membrane 1							137.0	127.0	130.0					12																	89985005		2203	4299	6502	SO:0001583	missense	490	0	0					g.chr12:89985005G>A	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.3419C>T	chr12.hg19:g.89985005G>A	ENSP00000392043:p.Ser1140Leu	0					AC068641.1_ENST00000585304.1_RNA|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|ATP2B1_ENST00000359142.3_3'UTR	p.S1140L			1	2	3	2.002308	P20020	AT2B1_HUMAN		21	3875	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.3419C>T	CCDS9035.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	2|0	ATP2B1|ATP2B1	88509136|88509136	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_001682			87	86		358	352	1		1	1		0	0	83	0		1	1	0	35	0	102	0	87	358
ATP2B1	490	broad.mit.edu	37	12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	997					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)			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						GAATACATTTCTTTCACCATG	0.348																																						ENST00000428670.3	1.000000	0.250000	7.000000e-01	3.500000e-01	0.490000	0.537013	0.490000	0.460000																										0				45						c.(2989-2991)aGa>aTa		ATPase, Ca++ transporting, plasma membrane 1							101.0	95.0	97.0					12																	89996890		2203	4300	6503	SO:0001583	missense	490	0	0					g.chr12:89996890C>A	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.2990G>T	chr12.hg19:g.89996890C>A	ENSP00000392043:p.Arg997Ile	0					ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I	p.R997I			1	2	3	2.002308	P20020	AT2B1_HUMAN		18	3446	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.2990G>T	CCDS9035.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.177853|5.177853	0.94846|0.94846	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.94862	.|-3.54;-3.54;-3.54;-3.54;-3.54	5.03|5.03	5.03|5.03	0.67393|0.67393	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96191	.|0.8758	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.36;0.323	.|D;B;B	.|0.83275	.|0.996;0.158;0.048	.|D	.|0.96487	.|0.9361	.|10	.|0.59425	.|D	.|0.04	-8.967|-8.967	18.7145|18.7145	0.91670|0.91670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|997;997;997	.|P20020-3;P20020-2;P20020-6	.|.;.;.	X|I	14|997;997;997;997;740	.|ENSP00000261173:R997I;ENSP00000343599:R997I;ENSP00000352054:R997I;ENSP00000392043:R997I;ENSP00000376869:R740I	.|ENSP00000261173:R997I	E|R	-|-	1|2	0|0	0|0	ATP2B1|ATP2B1	88521021|88521021	88521021|88521021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.485000|2.485000	0.83878|0.83878	0.563000|0.563000	0.77884|0.77884	GAA|AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-4.076707	1	0.170000	NM_001682			10	10		241	239	0		1	1		0	0	48	0		9.969239e-01	9.564604e-01	0	7	0	126	0	10	241
ATP2B1	490	broad.mit.edu	37	12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	293					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)			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						ttcACCTCCAGCTCCAAGTAA	0.343																																						ENST00000428670.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				45						c.(877-879)gCt>gAt		ATPase, Ca++ transporting, plasma membrane 1							69.0	64.0	66.0					12																	90024332		2203	4300	6503	SO:0001583	missense	490	0	0					g.chr12:90024332G>T	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.878C>A	chr12.hg19:g.90024332G>T	ENSP00000392043:p.Ala293Asp	0					ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D	p.A293D			1	2	3	2.002308	P20020	AT2B1_HUMAN		6	1334	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.878C>A	CCDS9035.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935294	0.73442	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.221912	0.46758	D	0.000261	D	0.87116	0.6097	L	0.29908	0.895	0.80722	D	1	P;B	0.46512	0.879;0.045	B;B	0.43103	0.408;0.093	D	0.85982	0.1483	9	.	.	.	-31.7678	19.2222	0.93801	0.0:0.0:1.0:0.0	.	293;293	P20020-3;P20020-2	.;.	D	293;293;293;293;36	ENSP00000261173:A293D;ENSP00000343599:A293D;ENSP00000352054:A293D;ENSP00000392043:A293D;ENSP00000376869:A36D	.	A	-	2	0	0	ATP2B1	88548463	88548463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	2.555000	0.86185	0.650000	0.86243	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	0	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_001682			38	37		192	189	1		1	1		0	0	56	0		1	9.999994e-01	0	28	0	88	0	38	192
ATP2B1	490	broad.mit.edu	37	12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A	rs543717834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	277					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)			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						TACACCTACAGCTGTAACTAC	0.363																																						ENST00000428670.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999727	0.990000	1.000000																										0				45						c.(829-831)gCt>gTt		ATPase, Ca++ transporting, plasma membrane 1							94.0	87.0	89.0					12																	90024380		2203	4297	6500	SO:0001583	missense	490	0	0					g.chr12:90024380G>A	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.830C>T	chr12.hg19:g.90024380G>A	ENSP00000392043:p.Ala277Val	0					ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V	p.A277V			1	2	3	2.002308	P20020	AT2B1_HUMAN		6	1286	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.830C>T	CCDS9035.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.455931	0.96223	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.104870	0.64402	D	0.000003	D	0.97034	0.9031	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.948	D	0.97468	1.0039	9	.	.	.	-21.5485	19.35	0.94379	0.0:0.0:1.0:0.0	.	277;277	P20020-3;P20020-2	.;.	V	277;277;277;277;20	ENSP00000261173:A277V;ENSP00000343599:A277V;ENSP00000352054:A277V;ENSP00000392043:A277V;ENSP00000376869:A20V	.	A	-	2	0	0	ATP2B1	88548511	88548511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.574000	0.86865	0.650000	0.86243	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-16.169270	1	0.170000	NM_001682			35	33		232	228	1		1	1		0	0	71	0		1	9.998939e-01	0	22	0	73	0	35	232
ATP2B1	490	broad.mit.edu	37	12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	54					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)			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						ATAGACATCTCCATAGCTTTC	0.403																																						ENST00000428670.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(160-162)gGa>gAa		ATPase, Ca++ transporting, plasma membrane 1							81.0	78.0	79.0					12																	90049503		2203	4300	6503	SO:0001583	missense	490	0	0					g.chr12:90049503C>T	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.161G>A	chr12.hg19:g.90049503C>T	ENSP00000392043:p.Gly54Glu	0					ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E	p.G54E			1	2	3	2.002308	P20020	AT2B1_HUMAN		2	617	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.161G>A	CCDS9035.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152498	0.78001	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.052038	0.85682	D	0.000000	D	0.87533	0.6201	M	0.89534	3.04	0.80722	D	1	B;P	0.34815	0.046;0.47	B;P	0.46172	0.027;0.506	D	0.86701	0.1929	9	.	.	.	0.5749	19.7147	0.96110	0.0:1.0:0.0:0.0	.	54;54	P20020-3;P20020-2	.;.	E	54	ENSP00000261173:G54E;ENSP00000343599:G54E;ENSP00000352054:G54E;ENSP00000392043:G54E	.	G	-	2	0	0	ATP2B1	88573634	88573634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.577000	0.60922	2.732000	0.93576	0.591000	0.81541	GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-2.903339	1	0.170000	NM_001682			54	52		247	245	1		1	1		0	0	50	0		1	9.994485e-01	0	17	0	37	0	54	247
EPYC	1833	broad.mit.edu	37	12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	93					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261172.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(277-279)aTt>aCt		epiphycan							128.0	126.0	126.0					12																	91371927		2203	4300	6503	SO:0001583	missense	1833	0	0					g.chr12:91371927A>G	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.278T>C	chr12.hg19:g.91371927A>G	ENSP00000261172:p.Ile93Thr	0		OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282		p.I93T	NM_004950.4	NP_004941.2	1	2	3	2.002308	Q99645	EPYC_HUMAN		3	370	-			A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	1	1	hg19	c.278T>C	CCDS31870.1	1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720306	0.30503	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66099	0.5;-0.19	5.48	4.34	0.51931	5.48	4.34	0.51931	.	0.359483	0.34338	N	0.004043	T	0.56529	0.1991	L	0.53249	1.67	0.42210	D	0.9918	B	0.09022	0.002	B	0.12837	0.008	T	0.54377	-0.8303	10	0.48119	T	0.1	.	11.5031	0.50450	0.9294:0.0:0.0706:0.0	.	93	Q99645	EPYC_HUMAN	T	93	ENSP00000261172:I93T;ENSP00000448272:I93T	ENSP00000261172:I93T	I	-	2	0	0	EPYC	89896058	89896058	1.000000	0.71417	0.780000	0.31762	0.460000	0.32559	5.945000	0.70226	1.027000	0.39758	0.454000	0.30748	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_004950			81	77		402	391	1		1	0		0	0	103	0		1	2.887446e-02	0	0	0	2	0	81	402
KERA	11081	broad.mit.edu	37	12	91449450	91449450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	203					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)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368																																						ENST00000266719.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(607-609)gcC>gcT		keratocan							129.0	127.0	128.0					12																	91449450		2203	4299	6502	SO:0001819	synonymous_variant	11081	0	0					g.chr12:91449450G>A	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.609C>T	chr12.hg19:g.91449450G>A		0						p.A203A	NM_007035.3	NP_008966.1	1	2	3	2.002308	O60938	KERA_HUMAN		2	856	-				Silent	SNP	ENST00000266719.3	1	1	hg19	c.609C>T	CCDS9037.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-3.272487	1	0.170000	NM_007035			126	125		570	564	1		1	0		0	0	118	0		1	8.767437e-02	0	0	0	3	0	126	570
KERA	11081	broad.mit.edu	37	12	91449713	91449713	+	Missense_Mutation	SNP	C	C	T	rs369595724		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449713C>T	ENST00000266719.3	-	2	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	116					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)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGCTTAGGGCTCCTTTTTCA	0.383																																						ENST00000266719.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(346-348)Gcc>Acc		keratocan							135.0	127.0	129.0					12																	91449713		2203	4299	6502	SO:0001583	missense	11081	0	0					g.chr12:91449713C>T	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.346G>A	chr12.hg19:g.91449713C>T	ENSP00000266719:p.Ala116Thr	0						p.A116T	NM_007035.3	NP_008966.1	1	2	3	2.002308	O60938	KERA_HUMAN		2	593	-				Missense_Mutation	SNP	ENST00000266719.3	1	0	hg19	c.346G>A	CCDS9037.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265624	0.80358	.	.	ENSG00000139330	ENST00000266719	T	0.60299	0.2	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.224880	0.48286	D	0.000191	T	0.57548	0.2061	L	0.37750	1.13	0.41250	D	0.986709	P	0.37688	0.605	P	0.45660	0.489	T	0.56300	-0.8002	10	0.42905	T	0.14	-8.7596	15.6933	0.77473	0.0:0.8639:0.1361:0.0	.	116	O60938	KERA_HUMAN	T	116	ENSP00000266719:A116T	ENSP00000266719:A116T	A	-	1	0	0	KERA	89973844	89973844	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.561000	0.60809	2.789000	0.95967	0.650000	0.86243	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	0		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_007035			101	99		531	522	1		1	0		0	0	107	0		1	1.245482e-01	0	0	0	4	0	101	531
KERA	11081	broad.mit.edu	37	12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	106					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)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGTTGGTTATTTTGTTCTTGT	0.383																																						ENST00000266719.3	1.000000	0.280000	5.800000e-01	3.500000e-01	0.450000	0.490012	0.450000	0.440000																										0				19						c.(316-318)aaA>aaC		keratocan							146.0	134.0	138.0					12																	91449741		2203	4299	6502	SO:0001583	missense	11081	0	0					g.chr12:91449741T>G	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.318A>C	chr12.hg19:g.91449741T>G	ENSP00000266719:p.Lys106Asn	0						p.K106N	NM_007035.3	NP_008966.1	1	2	3	2.002308	O60938	KERA_HUMAN		2	565	-				Missense_Mutation	SNP	ENST00000266719.3	1	1	hg19	c.318A>C	CCDS9037.1	0	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284185	0.59867	.	.	ENSG00000139330	ENST00000266719	T	0.54866	0.55	6.04	3.63	0.41609	6.04	3.63	0.41609	.	0.041188	0.85682	D	0.000000	T	0.54303	0.1850	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.51379	-0.8713	10	0.33141	T	0.24	-36.8212	5.5376	0.17020	0.1198:0.1838:0.0:0.6964	.	106	O60938	KERA_HUMAN	N	106	ENSP00000266719:K106N	ENSP00000266719:K106N	K	-	3	2	2	KERA	89973872	89973872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.605000	0.36815	1.085000	0.41206	0.529000	0.55759	AAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-18.948100	1	0.170000	NM_007035			20	20		520	510	0		1	0		0	0	90	0		9.999944e-01	1.441385e-02	0	0	0	5	0	20	520
KERA	11081	broad.mit.edu	37	12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	4					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)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358																																						ENST00000266719.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(10-12)Aca>Cca		keratocan							48.0	41.0	43.0					12																	91450049		2200	4296	6496	SO:0001583	missense	11081	0	0					g.chr12:91450049T>G	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.10A>C	chr12.hg19:g.91450049T>G	ENSP00000266719:p.Thr4Pro	0						p.T4P	NM_007035.3	NP_008966.1	1	2	3	2.002308	O60938	KERA_HUMAN		2	257	-				Missense_Mutation	SNP	ENST00000266719.3	1	1	hg19	c.10A>C	CCDS9037.1	1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114561	0.01799	.	.	ENSG00000139330	ENST00000266719	T	0.55234	0.53	5.96	-0.939	0.10408	5.96	-0.939	0.10408	.	1.074070	0.06975	N	0.818779	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.25751	T	0.34	0.0551	7.3371	0.26615	0.0:0.0984:0.3703:0.5313	.	4	O60938	KERA_HUMAN	P	4	ENSP00000266719:T4P	ENSP00000266719:T4P	T	-	1	0	0	KERA	89974180	89974180	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.013000	0.13310	-0.076000	0.12775	0.528000	0.53228	ACA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_007035			50	50		208	207	1		1	0		0	0	54	0		1	0	0	0	0	1	0	50	208
LUM	4060	broad.mit.edu	37	12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	229					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)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433																																						ENST00000266718.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(685-687)Aat>Gat		lumican							170.0	159.0	163.0					12																	91502072		2203	4300	6503	SO:0001583	missense	4060	0	0					g.chr12:91502072T>C	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.685A>G	chr12.hg19:g.91502072T>C	ENSP00000266718:p.Asn229Asp	0					LUM_ENST00000548071.1_Intron	p.N229D	NM_002345.3	NP_002336.1	1	2	3	2.002308	P51884	LUM_HUMAN		2	1139	-			B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	1	1	hg19	c.685A>G	CCDS9038.1	1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737966	0.30774	.	.	ENSG00000139329	ENST00000266718	T	0.56611	0.45	5.84	4.7	0.59300	5.84	4.7	0.59300	.	1.142620	0.06250	N	0.691833	T	0.42944	0.1225	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.25987	0.065	T	0.43294	-0.9400	10	0.59425	D	0.04	-14.8601	11.6157	0.51088	0.0:0.0691:0.0:0.9309	.	229	P51884	LUM_HUMAN	D	229	ENSP00000266718:N229D	ENSP00000266718:N229D	N	-	1	0	0	LUM	90026203	90026203	0.517000	0.26226	0.037000	0.18230	0.844000	0.47949	2.745000	0.47459	1.049000	0.40321	0.455000	0.32223	AAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_002345			115	112		576	568	1		1	0		0	0	118	0		1	1	0	0	0	6851	0	115	576
DCN	1634	broad.mit.edu	37	12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000303320.3_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	259					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTGTCAACAGCAGAGATGCT	0.473																																						ENST00000052754.5	1.000000	0.440000	1	6.100000e-01	0.830000	0.813280	0.830000	1.000000																										0				20						c.(775-777)gCt>gAt		decorin							120.0	96.0	104.0					12																	91545540		2203	4300	6503	SO:0001583	missense	1634	0	0					g.chr12:91545540G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.776C>A	chr12.hg19:g.91545540G>T	ENSP00000052754:p.Ala259Asp	0					DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D	p.A259D	NM_001920.3	NP_001911.1	1	2	3	2.002308	P07585	PGS2_HUMAN		7	1277	-			Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	1	1	hg19	c.776C>A	CCDS9039.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.542|0.542	-0.853349|-0.853349	0.02630|0.02630	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.58|5.58	0.558|0.558	0.17266|0.17266	5.58|5.58	0.558|0.558	0.17266|0.17266	.|.	0.841391|.	0.11300|.	N|.	0.578333|.	T|.	0.21718|.	0.0523|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30889|.	0.0;0.0;0.299|.	B;B;B|.	0.23852|.	0.001;0.001;0.049|.	T|.	0.28459|.	-1.0043|.	10|.	0.02654|.	T|.	1|.	.|.	8.2526|8.2526	0.31735|0.31735	0.324:0.1011:0.5748:0.0|0.324:0.1011:0.5748:0.0	.|.	259;112;150|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	D|X	259;150;259;112;259;150;112;112|28	ENSP00000052754:A259D;ENSP00000228329:A150D;ENSP00000376862:A259D;ENSP00000401021:A112D;ENSP00000447654:A259D;ENSP00000413723:A150D;ENSP00000447674:A112D;ENSP00000446530:A112D|.	ENSP00000052754:A259D|.	A|C	-|-	2|3	0|2	0|2	DCN|DCN	90069671|90069671	90069671|90069671	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.291000|0.291000	0.27294|0.27294	0.596000|0.596000	0.24044|0.24044	-0.309000|-0.309000	0.08779|0.08779	-1.094000|-1.094000	0.02160|0.02160	GCT|TGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-15.297700	1	0.170000	NM_133507			11	12		152	148	0		1	0		0	0	38	0		9.983532e-01	1	0	0	0	3038	0	11	152
EEA1	8411	broad.mit.edu	37	12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					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)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289																																						ENST00000322349.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				36						c.(2659-2661)Ata>Gta		early endosome antigen 1							51.0	55.0	54.0					12																	93196191		2200	4295	6495	SO:0001583	missense	8411	0	0					g.chr12:93196191T>C	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.2659A>G	chr12.hg19:g.93196191T>C	ENSP00000317955:p.Ile887Val	0						p.I887V	NM_003566.3	NP_003557	1	2	3	2.002308	Q15075	EEA1_HUMAN		19	2923	-			Q14221	Missense_Mutation	SNP	ENST00000322349.8	1	1	hg19	c.2659A>G	CCDS31874.1	1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650910	0.03506	.	.	ENSG00000102189	ENST00000322349	T	0.62788	0.0	5.4	-0.258	0.12975	5.4	-0.258	0.12975	.	0.442204	0.19156	N	0.121338	T	0.27454	0.0674	N	0.02916	-0.46	0.21020	N	0.999803	B	0.02656	0.0	B	0.04013	0.001	T	0.08994	-1.0695	10	0.29301	T	0.29	.	1.7563	0.02983	0.1541:0.3229:0.1128:0.4102	.	887	Q15075	EEA1_HUMAN	V	887	ENSP00000317955:I887V	ENSP00000317955:I887V	I	-	1	0	0	EEA1	91720322	91720322	0.051000	0.20477	0.993000	0.49108	0.970000	0.65996	-0.276000	0.08514	0.040000	0.15660	0.402000	0.26972	ATA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_003566			26	26		126	124	1		1	1		0	0	28	0		1	9.980384e-01	0	7	0	44	0	26	126
EEA1	8411	broad.mit.edu	37	12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	654	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)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358																																						ENST00000322349.8	1.000000	0.870000	1	9.900000e-01	0.990000	0.990765	0.990000	1.000000																										0				36						c.(1960-1962)Gca>Tca		early endosome antigen 1							176.0	155.0	162.0					12																	93206839		2202	4300	6502	SO:0001583	missense	8411	0	0					g.chr12:93206839C>A	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.1960G>T	chr12.hg19:g.93206839C>A	ENSP00000317955:p.Ala654Ser	0						p.A654S	NM_003566.3	NP_003557	1	2	3	2.002308	Q15075	EEA1_HUMAN		16	2224	-			Q14221	Missense_Mutation	SNP	ENST00000322349.8	1	1	hg19	c.1960G>T	CCDS31874.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202315|5.202315	0.94997|0.94997	.|.	.|.	ENSG00000102189|ENSG00000102189	ENST00000322349|ENST00000549790	T|.	0.44881|.	0.91|.	5.26|5.26	5.26|5.26	0.73747|0.73747	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.47852|.	U|.	0.000202|.	T|T	0.62744|0.62744	0.2453|0.2453	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.66324|0.66324	-0.5952|-0.5952	10|6	0.09084|0.87932	T|D	0.74|0	.|.	18.4977|18.4977	0.90870|0.90870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	654|.	Q15075|.	EEA1_HUMAN|.	S|H	654|23	ENSP00000317955:A654S|.	ENSP00000317955:A654S|ENSP00000446785:Q23H	A|Q	-|-	1|3	0|2	0|2	EEA1|EEA1	91730970|91730970	91730970|91730970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.547000|7.547000	0.82146|0.82146	2.465000|2.465000	0.83290|0.83290	0.563000|0.563000	0.77884|0.77884	GCA|CAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-13.507390	1	0.170000	NM_003566			40	39		359	355	1		1	1		0	0	88	0		1	8.295242e-01	0	6	0	24	0	40	359
EEA1	8411	broad.mit.edu	37	12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	366					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)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393																																						ENST00000322349.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1096-1098)Gaa>Aaa		early endosome antigen 1							151.0	141.0	144.0					12																	93226446		2203	4300	6503	SO:0001583	missense	8411	1	121408	29				g.chr12:93226446C>T	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.1096G>A	chr12.hg19:g.93226446C>T	ENSP00000317955:p.Glu366Lys	0						p.E366K	NM_003566.3	NP_003557	1	2	3	2.002308	Q15075	EEA1_HUMAN		11	1360	-			Q14221	Missense_Mutation	SNP	ENST00000322349.8	1	1	hg19	c.1096G>A	CCDS31874.1	1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756161	0.69648	.	.	ENSG00000102189	ENST00000322349	T	0.69685	-0.42	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	T	0.74921	0.3780	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73538	-0.3951	10	0.39692	T	0.17	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	366	Q15075	EEA1_HUMAN	K	366	ENSP00000317955:E366K	ENSP00000317955:E366K	E	-	1	0	0	EEA1	91750577	91750577	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_003566			98	98		490	483	1		1	1		0	0	63	0		1	9.904883e-01	0	11	0	27	0	98	490
CRADD	8738	broad.mit.edu	37	12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	10	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)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483																																						ENST00000542893.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(28-30)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain							71.0	67.0	69.0					12																	94072579		2203	4300	6503	SO:0001583	missense	8738	2	121412	35				g.chr12:94072579G>A	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.29G>A	chr12.hg19:g.94072579G>A	ENSP00000439068:p.Arg10His	0					CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H	p.R10H			1	2	3	2.002308	P78560	CRADD_HUMAN		2	347	+			B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	1	1	hg19	c.29G>A	CCDS9048.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.19	5.19	0.71726	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58177	-0.7682	10	0.72032	D	0.01	-7.4989	18.7029	0.91627	0.0:0.0:1.0:0.0	.	10;10	F5H7C2;P78560	.;CRADD_HUMAN	H	10	ENSP00000449570:R10H;ENSP00000327647:R10H;ENSP00000449664:R10H;ENSP00000448685:R10H;ENSP00000439068:R10H;ENSP00000442624:R10H	ENSP00000327647:R10H	R	+	2	0	0	CRADD	92596710	92596710	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.787000	0.91830	2.403000	0.81681	0.655000	0.94253	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-3.488324	1	0.170000	NM_003805			50	48		189	182	1		1	1		0	0	52	0		1	9.999334e-01	0	20	0	38	0	50	189
CRADD	8738	broad.mit.edu	37	12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	26	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)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498																																						ENST00000542893.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(76-78)Gtt>Att		CASP2 and RIPK1 domain containing adaptor with death domain							79.0	74.0	76.0					12																	94072626		2203	4300	6503	SO:0001583	missense	8738	0	0					g.chr12:94072626G>A	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.76G>A	chr12.hg19:g.94072626G>A	ENSP00000439068:p.Val26Ile	0					CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I	p.V26I			1	2	3	2.002308	P78560	CRADD_HUMAN		2	394	+			B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	1	1	hg19	c.76G>A	CCDS9048.1	1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355886	0.61293	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.19	5.19	0.71726	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.054062	0.64402	D	0.000001	T	0.32102	0.0818	N	0.11724	0.165	0.45005	D	0.998029	D;B	0.67145	0.996;0.051	D;B	0.76071	0.987;0.233	T	0.15009	-1.0452	10	0.13853	T	0.58	-25.1462	18.7029	0.91627	0.0:0.0:1.0:0.0	.	26;26	F5H7C2;P78560	.;CRADD_HUMAN	I	26	ENSP00000449570:V26I;ENSP00000327647:V26I;ENSP00000449664:V26I;ENSP00000448685:V26I;ENSP00000439068:V26I;ENSP00000442624:V26I	ENSP00000327647:V26I	V	+	1	0	0	CRADD	92596757	92596757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.403000	0.81681	0.655000	0.94253	GTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_003805			59	59		238	228	1		1	1		0	0	65	0		1	9.999944e-01	0	16	0	59	0	59	238
CEP83	51134	broad.mit.edu	37	12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I|CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		534					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)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378																																						ENST00000397809.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1624-1626)Ctt>Att									274.0	242.0	252.0					12																	94725559		1893	4116	6009	SO:0001583	missense	0	0	0					g.chr12:94725559G>T																												ENST00000397809.5:c.1624C>A	chr12.hg19:g.94725559G>T	ENSP00000380911:p.Leu542Ile	0					CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I|CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I	p.L542I	NM_016122.2	NP_057206.2	1	2	3	2.002308	Q9Y592	CEP83_HUMAN		14	2173	-			A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	1	1	hg19	c.1624C>A	CCDS41820.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177979	0.38413	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.62105	1.98;1.98;1.98;0.05	5.79	3.96	0.45880	5.79	3.96	0.45880	.	.	.	.	.	T	0.47746	0.1462	L	0.42245	1.32	0.32867	D	0.508704	B;B	0.31193	0.312;0.141	B;B	0.29524	0.103;0.028	T	0.51284	-0.8725	9	0.10902	T	0.67	-6.9572	8.4164	0.32674	0.2343:0.0:0.7657:0.0	.	509;534	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	I	6;542;542;509	ENSP00000447094:L6I;ENSP00000344655:L542I;ENSP00000380911:L542I;ENSP00000380909:L509I	ENSP00000344655:L542I	L	-	1	0	0	CCDC41	93249690	93249690	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.990000	0.40717	1.459000	0.47892	0.655000	0.94253	CTT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000				146	140		585	567	1		1	1		0	0	109	0		1	9.955165e-01	0	11	0	24	0	146	585
TMCC3	57458	broad.mit.edu	37	12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	127						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483																																						ENST00000261226.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(379-381)Gcc>Acc		transmembrane and coiled-coil domain family 3							102.0	95.0	97.0					12																	94976014		2203	4300	6503	SO:0001583	missense	57458	0	0					g.chr12:94976014C>T	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.379G>A	chr12.hg19:g.94976014C>T	ENSP00000261226:p.Ala127Thr	0					TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	p.A127T	NM_020698.2	NP_065749	1	2	3	2.002308	Q9ULS5	TMCC3_HUMAN		2	510	-			Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	1	1	hg19	c.379G>A	CCDS31877.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058467	0.76074	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.55413	0.78;0.78;0.52	5.74	4.83	0.62350	5.74	4.83	0.62350	.	0.137360	0.64402	D	0.000003	T	0.49660	0.1570	M	0.76574	2.34	0.58432	D	0.999996	P	0.48089	0.905	B	0.37601	0.254	T	0.54860	-0.8230	10	0.37606	T	0.19	-18.7566	12.5217	0.56062	0.1326:0.7399:0.1275:0.0	.	127	Q9ULS5	TMCC3_HUMAN	T	127;96;96	ENSP00000261226:A127T;ENSP00000449888:A96T;ENSP00000450078:A96T	ENSP00000261226:A127T	A	-	1	0	0	TMCC3	93500145	93500145	0.998000	0.40836	0.794000	0.32065	0.973000	0.67179	3.773000	0.55333	1.528000	0.49103	0.561000	0.74099	GCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.261026	1	0.170000	NM_020698			80	78		338	334	1		1	1		0	0	75	0		1	9.993160e-01	0	18	0	30	0	80	338
TMCC3	57458	broad.mit.edu	37	12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	rs141857063	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral component of membrane (GO:0016021)		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453													C|||	30	0.00599042	0.0015	0.0	5008	,	,		19454	0.004		0.0	False		,,,				2504	0.0245					ENST00000261226.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D90Y(1)	breast(1)	29						c.(268-270)Gat>Aat		transmembrane and coiled-coil domain family 3							199.0	185.0	190.0					12																	94976125		2203	4300	6503	SO:0001583	missense	57458	289	121412	56				g.chr12:94976125C>T	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.268G>A	chr12.hg19:g.94976125C>T	ENSP00000261226:p.Asp90Asn	0					TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	p.D90N	NM_020698.2	NP_065749	1	2	3	2.002308	Q9ULS5	TMCC3_HUMAN		2	399	-			Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	1	1	hg19	c.268G>A	CCDS31877.1	1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	27.0	4.793782	0.90453	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.60171	0.21;0.21;0.21	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.76035	-0.3106	10	0.52906	T	0.07	-25.4124	20.0555	0.97650	0.0:1.0:0.0:0.0	.	90	Q9ULS5	TMCC3_HUMAN	N	90;59;59	ENSP00000261226:D90N;ENSP00000449888:D59N;ENSP00000450078:D59N	ENSP00000261226:D90N	D	-	1	0	0	TMCC3	93500256	93500256	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	5.900000	0.69853	2.821000	0.97095	0.485000	0.47835	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-4.083750	1	0.170000	NM_020698			144	142		658	640	1		1	0		0	0	142	0		1	9.787789e-01	0	0	0	30	0	144	658
NR2C1	7181	broad.mit.edu	37	12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	562					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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358																																						ENST00000333003.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1684-1686)gCt>gAt		nuclear receptor subfamily 2, group C, member 1							205.0	218.0	213.0					12																	95416132		2203	4300	6503	SO:0001583	missense	7181	0	0					g.chr12:95416132G>T	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.1685C>A	chr12.hg19:g.95416132G>T	ENSP00000333275:p.Ala562Asp	0						p.A562D	NM_003297.3	NP_003288.2	1	2	3	2.002308	P13056	NR2C1_HUMAN		14	2015	-			A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	1	1	hg19	c.1685C>A	CCDS9051.1	1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988099	0.53934	.	.	ENSG00000120798	ENST00000333003	D	0.96651	-4.08	5.74	4.85	0.62838	5.74	4.85	0.62838	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.145103	0.64402	D	0.000008	D	0.97810	0.9281	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97793	1.0239	10	0.44086	T	0.13	.	14.9741	0.71257	0.0686:0.0:0.9314:0.0	.	562	P13056	NR2C1_HUMAN	D	562	ENSP00000333275:A562D	ENSP00000333275:A562D	A	-	2	0	0	NR2C1	93940263	93940263	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.869000	0.99810	1.443000	0.47586	-0.156000	0.13503	GCT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1		2	2	2	0		0	0	217		217	216	1	2.060000	-20.000000	1	0.170000	NM_003297			172	169		852	828	1		1	1		0	0	217	0		1	9.981913e-01	0	17	0	30	0	172	852
NR2C1	7181	broad.mit.edu	37	12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358																																						ENST00000333003.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				13						c.(1516-1518)gTa>gCa		nuclear receptor subfamily 2, group C, member 1							106.0	95.0	99.0					12																	95422177		2203	4300	6503	SO:0001583	missense	7181	0	0					g.chr12:95422177A>G	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.1517T>C	chr12.hg19:g.95422177A>G	ENSP00000333275:p.Val506Ala	0					NR2C1_ENST00000545833.1_5'Flank	p.V506A	NM_003297.3	NP_003288.2	1	2	3	2.002308	P13056	NR2C1_HUMAN		12	1847	-			A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	1	1	hg19	c.1517T>C	CCDS9051.1	1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297574	0.60086	.	.	ENSG00000120798	ENST00000333003	D	0.96716	-4.1	5.23	5.23	0.72850	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055467	0.64402	D	0.000001	D	0.93112	0.7807	L	0.43554	1.36	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	D	0.89908	0.4049	10	0.46703	T	0.11	.	9.6208	0.39721	0.9215:0.0:0.0785:0.0	.	506	P13056	NR2C1_HUMAN	A	506	ENSP00000333275:V506A	ENSP00000333275:V506A	V	-	2	0	0	NR2C1	93946308	93946308	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.574000	0.82434	1.960000	0.56953	0.460000	0.39030	GTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_003297			32	32		149	147	1		1	1		0	0	42	0		1	9.978052e-01	0	14	0	34	0	32	149
NR2C1	7181	broad.mit.edu	37	12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	468					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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303																																						ENST00000333003.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				13						c.(1402-1404)Tca>Aca		nuclear receptor subfamily 2, group C, member 1							91.0	86.0	88.0					12																	95422292		2203	4300	6503	SO:0001583	missense	7181	0	0					g.chr12:95422292A>T	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.1402T>A	chr12.hg19:g.95422292A>T	ENSP00000333275:p.Ser468Thr	0					NR2C1_ENST00000545833.1_Intron	p.S468T	NM_003297.3	NP_003288.2	1	2	3	2.002308	P13056	NR2C1_HUMAN		12	1732	-			A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	1	1	hg19	c.1402T>A	CCDS9051.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690083	0.48097	.	.	ENSG00000120798	ENST00000333003	D	0.96830	-4.14	5.37	5.37	0.77165	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057030	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45581	1.43	0.80722	D	1	P	0.43938	0.822	B	0.42738	0.396	D	0.91549	0.5255	10	0.24483	T	0.36	.	10.1495	0.42784	0.9153:0.0:0.0847:0.0	.	468	P13056	NR2C1_HUMAN	T	468	ENSP00000333275:S468T	ENSP00000333275:S468T	S	-	1	0	0	NR2C1	93946423	93946423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.432000	0.59922	2.024000	0.59613	0.460000	0.39030	TCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-16.669900	1	0.170000	NM_003297			33	32		200	201	1		1	1		0	0	53	0		1	9.890515e-01	0	20	0	25	0	33	200
NR2C1	7181	broad.mit.edu	37	12	95453692	95453692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B. {ECO:0000250}.				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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313																																						ENST00000333003.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999543	0.990000	1.000000																										0				13						c.(352-354)gaC>gaT		nuclear receptor subfamily 2, group C, member 1							62.0	62.0	62.0					12																	95453692		2203	4298	6501	SO:0001819	synonymous_variant	7181	0	0					g.chr12:95453692G>A	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.354C>T	chr12.hg19:g.95453692G>A		0					NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.D118D	p.D118D	NM_003297.3	NP_003288.2	1	2	3	2.002308	P13056	NR2C1_HUMAN		4	684	-			A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	1	1	hg19	c.354C>T	CCDS9051.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_003297			26	25		162	149	1		1	1		0	0	31	0		9.999999e-01	9.937976e-01	0	17	0	36	0	26	162
FGD6	55785	broad.mit.edu	37	12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					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)			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						ATACTCCGGTGCACAGAGGCT	0.453																																						ENST00000343958.4	1.000000	0.800000	1	9.400000e-01	0.990000	0.977900	0.990000	1.000000																										0				56						c.(2233-2235)gCa>gTa		FYVE, RhoGEF and PH domain containing 6							106.0	100.0	102.0					12																	95602826		2203	4300	6503	SO:0001583	missense	55785	0	0					g.chr12:95602826G>A	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.2234C>T	chr12.hg19:g.95602826G>A	ENSP00000344446:p.Ala745Val	0					FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	p.A745V	NM_018351.3	NP_060821.3	1	2	3	2.002308	Q6ZV73	FGD6_HUMAN		2	2457	-			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	1	1	hg19	c.2234C>T	CCDS31878.1	1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485944	0.26686	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68903	-0.25;-0.36;-0.28	5.77	1.59	0.23543	5.77	1.59	0.23543	.	0.284335	0.25296	N	0.031683	T	0.42562	0.1208	N	0.25647	0.755	0.09310	N	0.999995	B	0.15930	0.015	B	0.11329	0.006	T	0.11690	-1.0577	10	0.12103	T	0.63	-1.6594	2.7736	0.05341	0.2026:0.2271:0.459:0.1112	.	745	Q6ZV73	FGD6_HUMAN	V	745	ENSP00000344446:A745V;ENSP00000450342:A745V;ENSP00000449005:A745V	ENSP00000344446:A745V	A	-	2	0	0	FGD6	94126957	94126957	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.042000	0.12063	0.308000	0.22923	0.561000	0.74099	GCA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-13.626520	1	0.170000	NM_018351			43	43		424	420	1		1	1		0	0	64	0		1	9.537958e-01	0	11	0	41	0	43	424
USP44	84101	broad.mit.edu	37	12	95922698	95922698	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	ENST00000258499.3	-	3	1797	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	503	USP.				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)			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						CACTGCATTGATACCTTTCTG	0.378																																						ENST00000258499.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1507-1509)taT>taG		ubiquitin specific peptidase 44							81.0	78.0	79.0					12																	95922698		2203	4300	6503	SO:0001587	stop_gained	84101	0	0					g.chr12:95922698A>C	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.1509T>G	chr12.hg19:g.95922698A>C	ENSP00000258499:p.Tyr503*	0					USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*	p.Y503*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	1	2	3	2.002308	Q9H0E7	UBP44_HUMAN		3	1797	-			B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	0	1	hg19	c.1509T>G	CCDS9053.1	1	.	.	.	.	.	.	.	.	.	.	A	41	8.936076	0.99008	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.94	2.81	0.32909	5.94	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1397	0.36897	0.3593:0.0:0.6407:0.0	.	.	.	.	X	503	.	ENSP00000258499:Y503X	Y	-	3	2	2	USP44	94446829	94446829	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.363000	0.34159	0.272000	0.22027	-0.366000	0.07423	TAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_032147			53	53		224	219	0		1	0		0	0	62	0		1	0	0	0	0	1	0	53	224
NTN4	59277	broad.mit.edu	37	12	96131853	96131853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96131853G>T	ENST00000343702.4	-	3	1103	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	NTN4_ENST00000538383.1_Missense_Mutation_p.L182M|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	219	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)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGATCTTCAGCTGCTCCTGA	0.448																																						ENST00000343702.4	1.000000	0.330000	6.300000e-01	4.100000e-01	0.500000	0.541018	0.500000	0.490000																										0				25						c.(655-657)Ctg>Atg		netrin 4							175.0	154.0	161.0					12																	96131853		2203	4300	6503	SO:0001583	missense	59277	0	0					g.chr12:96131853G>T	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.655C>A	chr12.hg19:g.96131853G>T	ENSP00000340998:p.Leu219Met	0					NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000538383.1_Missense_Mutation_p.L182M	p.L219M	NM_021229.3	NP_067052.2	1	2	3	2.002308	Q9HB63	NET4_HUMAN		3	1103	-			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	1	1	hg19	c.655C>A	CCDS9054.1	0	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409995	0.62399	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.51	1.62	0.23740	5.51	1.62	0.23740	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000004	D	0.85588	0.5731	M	0.79123	2.44	0.46725	D	0.999179	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.961	D	0.83708	0.0186	10	0.46703	T	0.11	.	10.7464	0.46183	0.3041:0.0:0.6959:0.0	.	219;219	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	219;182;182;219	ENSP00000340998:L219M;ENSP00000339436:L182M;ENSP00000444432:L182M;ENSP00000447292:L219M	ENSP00000340998:L219M	L	-	1	2	2	NTN4	94655984	94655984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.401000	0.44513	0.298000	0.22638	-0.228000	0.12330	CTG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-4.383029	1	0.170000	NM_021229			26	26		595	574	0		1	1		0	0	92	0		9.999999e-01	9.851239e-01	0	7	0	147	0	26	595
HAL	3034	broad.mit.edu	37	12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000261208.3	-	9	1045	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000551562.1_5'Flank	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	226					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)			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)	GGTCTCCAGGGAAATGCCACT	0.468																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(676-678)tCc>tTc		histidine ammonia-lyase	L-Histidine(DB00117)						178.0	146.0	157.0					12																	96386496		2203	4300	6503	SO:0001583	missense	3034	1	121412	34				g.chr12:96386496G>A		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.677C>T	chr12.hg19:g.96386496G>A	ENSP00000261208:p.Ser226Phe	0					HAL_ENST00000551562.1_5'Flank|HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F	p.S226F	NM_002108.3	NP_002099.1	1	2	3	2.002308	P42357	HUTH_HUMAN		9	1045	-			B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	1	1	hg19	c.677C>T	CCDS9058.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637203	0.87760	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.79	4.79	0.61399	4.79	4.79	0.61399	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.93769	0.7073	10	0.87932	D	0	-14.7048	17.8357	0.88696	0.0:0.0:1.0:0.0	.	226;226	F5GXF2;P42357	.;HUTH_HUMAN	F	226;18;226;214;136	ENSP00000261208:S226F;ENSP00000446364:S18F;ENSP00000440861:S226F;ENSP00000450372:S214F;ENSP00000447543:S136F	ENSP00000261208:S226F	S	-	2	0	0	HAL	94910627	94910627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.198000	0.70561	0.561000	0.74099	TCC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000				122	120		464	450	1		1	0		0	0	125	0		1	0	0	0	0	1	0	122	464
LTA4H	4048	broad.mit.edu	37	12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	272	Substrate binding.				arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	CAAGGATTCTCCATGCCACCA	0.398																																						ENST00000228740.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(814-816)Gag>Tag		leukotriene A4 hydrolase	Captopril(DB01197)						71.0	64.0	67.0					12																	96412579		2203	4300	6503	SO:0001587	stop_gained	4048	0	0					g.chr12:96412579C>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.814G>T	chr12.hg19:g.96412579C>A	ENSP00000228740:p.Glu272*	0					LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*|LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*	p.E272*	NM_000895.2	NP_000886.1	1	2	3	2.002308	P09960	LKHA4_HUMAN		8	955	-			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Nonsense_Mutation	SNP	ENST00000228740.2	0	1	hg19	c.814G>T	CCDS9059.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.296889	0.98192	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.044140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.386	18.9881	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	272;248;248	.	ENSP00000228740:E272X	E	-	1	0	0	LTA4H	94936710	94936710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.577000	0.86979	0.491000	0.48974	GAG	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_000895			46	44		155	155	1		1	1		0	0	48	0		1	1	0	6	0	284	0	46	155
LTA4H	4048	broad.mit.edu	37	12	96412999	96412999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	220					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GACCACACCAAAGTTCTTGGG	0.348																																						ENST00000228740.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(658-660)Ttg>Ctg		leukotriene A4 hydrolase	Captopril(DB01197)						101.0	100.0	100.0					12																	96412999		2203	4300	6503	SO:0001819	synonymous_variant	4048	0	0					g.chr12:96412999A>G	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.658T>C	chr12.hg19:g.96412999A>G		0					LTA4H_ENST00000552789.1_Silent_p.L196L|LTA4H_ENST00000413268.2_Silent_p.L196L	p.L220L	NM_000895.2	NP_000886.1	1	2	3	2.002308	P09960	LKHA4_HUMAN		7	799	-			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	1	1	hg19	c.658T>C	CCDS9059.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_000895			75	73		316	312	1		1	1		0	0	68	0		1	1	0	84	0	222	0	75	316
ELK3	2004	broad.mit.edu	37	12	96641197	96641197	+	Silent	SNP	C	C	T	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	229					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622																																						ENST00000228741.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(685-687)aaC>aaT		ELK3, ETS-domain protein (SRF accessory protein 2)		C		0,4406		0,0,2203	70.0	80.0	77.0		687	-6.8	0.0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		229/408	96641197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2004	2	121410	42				g.chr12:96641197C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.687C>T	chr12.hg19:g.96641197C>T		0					ELK3_ENST00000552142.1_Intron	p.N229N	NM_005230.2	NP_005221.2	1	2	3	2.002308	P41970	ELK3_HUMAN		3	1013	+	all_cancers(2;0.00173)		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	1	1	hg19	c.687C>T	CCDS9060.1	1																																																																																								1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000	NM_005230			130	128		688	674	1		1	1		0	0	109	0		1	1	0	15	0	142	0	130	688
TMPO	7112	broad.mit.edu	37	12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.R325I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	365	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)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTTGCCGCAGACCAATCAAA	0.408																																						ENST00000556029.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1093-1095)aGa>aTa		thymopoietin							50.0	55.0	53.0					12																	98941365		2203	4300	6503	SO:0001583	missense	7112	0	0					g.chr12:98941365G>T		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.1094G>T	chr12.hg19:g.98941365G>T	ENSP00000450627:p.Arg365Ile	0					TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I	p.R365I	NM_001032283.2	NP_001027454.1	1	2	3	2.002308	P42167	LAP2B_HUMAN		9	1450	+			A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	1	1	hg19	c.1094G>T	CCDS31879.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160451	0.78226	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.46;-0.54;-0.79;-1.47	5.35	5.35	0.76521	5.35	5.35	0.76521	.	.	.	.	.	D	0.90103	0.6908	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	D	0.90623	0.4561	9	0.66056	D	0.02	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	289;365	Q59G12;P42167	.;LAP2B_HUMAN	I	365;325;256;200	ENSP00000450627:R365I;ENSP00000340251:R325I;ENSP00000376773:R256I;ENSP00000451552:R200I	ENSP00000340251:R365I	R	+	2	0	0	TMPO	97465496	97465496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.512000	0.67030	2.668000	0.90789	0.655000	0.94253	AGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-3.422733	1	0.170000	NM_003276			57	56		258	251	1		1	1		0	0	72	0		1	1	0	39	0	85	0	57	258
APAF1	317	broad.mit.edu	37	12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000551964.1	+	5	1419	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	228	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453																																						ENST00000551964.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(682-684)cGc>cAc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						95.0	93.0	94.0					12																	99053094		2203	4300	6503	SO:0001583	missense	317	0	0					g.chr12:99053094G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.683G>A	chr12.hg19:g.99053094G>A	ENSP00000448165:p.Arg228His	0					APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H	p.R228H	NM_181861.1	NP_863651.1	1	2	3	2.002308	O14727	APAF_HUMAN		5	1419	+			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	1	1	hg19	c.683G>A	CCDS9069.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819499	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	4.63	0.57726	5.53	4.63	0.57726	NB-ARC (1);	0.049268	0.85682	D	0.000000	D	0.87075	0.6087	L	0.61218	1.895	0.80722	D	1	D;P;P;P;D	0.76494	0.974;0.474;0.803;0.938;0.999	B;B;B;B;D	0.71184	0.233;0.078;0.151;0.344;0.972	D	0.86685	0.1919	10	0.46703	T	0.11	-17.0243	14.7562	0.69567	0.0704:0.0:0.9296:0.0	.	228;228;217;228;217	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	H	228;217;228;228;228;228;217;228;228	ENSP00000448165:R228H;ENSP00000353059:R217H;ENSP00000349862:R228H;ENSP00000341830:R228H;ENSP00000334558:R228H;ENSP00000448826:R228H;ENSP00000448449:R217H;ENSP00000449791:R228H;ENSP00000448161:R228H	ENSP00000334558:R228H	R	+	2	0	0	APAF1	97577225	97577225	1.000000	0.71417	0.974000	0.42286	0.160000	0.22226	6.819000	0.75262	2.610000	0.88304	0.650000	0.86243	CGC	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.122182	1	0.170000	NM_181861.1			72	72		341	338	1		1	1		0	0	76	0		1	8.661686e-01	0	6	0	13	0	72	341
APAF1	317	broad.mit.edu	37	12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000551964.1	+	8	1706	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	324	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343																																						ENST00000551964.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(970-972)Gta>Ata		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107.0	115.0	112.0					12																	99059345		2202	4300	6502	SO:0001583	missense	317	1	121402	39				g.chr12:99059345G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.970G>A	chr12.hg19:g.99059345G>A	ENSP00000448165:p.Val324Ile	0					APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I	p.V324I	NM_181861.1	NP_863651.1	1	2	3	2.002308	O14727	APAF_HUMAN		8	1706	+			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	1	1	hg19	c.970G>A	CCDS9069.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567535	0.45694	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.96	4.07	0.47477	4.96	4.07	0.47477	NB-ARC (1);	0.180815	0.47852	N	0.000204	T	0.59500	0.2198	N	0.04508	-0.205	0.80722	D	1	B;B;B;P	0.51537	0.008;0.001;0.016;0.946	B;B;B;P	0.48795	0.123;0.031;0.038;0.59	T	0.56294	-0.8003	10	0.10636	T	0.68	-22.9329	10.1916	0.43030	0.1753:0.0:0.8247:0.0	.	324;313;324;313	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	I	324;313;324;324;313;324;324	ENSP00000448165:V324I;ENSP00000353059:V313I;ENSP00000349862:V324I;ENSP00000341830:V324I;ENSP00000448449:V313I;ENSP00000449791:V324I;ENSP00000448161:V324I	ENSP00000341830:V324I	V	+	1	0	0	APAF1	97583476	97583476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.475000	0.60210	1.088000	0.41272	0.650000	0.86243	GTA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	1	0	1		2	2	2	0		0	0	129		129	130	1	2.060000	-20.000000	1	0.170000	NM_181861.1			135	133		587	572	1		1	1		0	0	129	0		1	9.225790e-01	0	5	0	16	0	135	587
APAF1	317	broad.mit.edu	37	12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000551964.1	+	14	2768	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	678					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363																																						ENST00000551964.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				42						c.(2032-2034)Gat>Aat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						80.0	81.0	81.0					12																	99074166		2203	4300	6503	SO:0001583	missense	317	0	0					g.chr12:99074166G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2032G>A	chr12.hg19:g.99074166G>A	ENSP00000448165:p.Asp678Asn	0					APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N	p.D678N	NM_181861.1	NP_863651.1	1	2	3	2.002308	O14727	APAF_HUMAN		14	2768	+			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	1	1	hg19	c.2032G>A	CCDS9069.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.248336	0.95305	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.49	5.49	0.81192	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.045251	0.85682	D	0.000000	D	0.95433	0.8517	M	0.87180	2.865	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	1.0;1.0;1.0;0.999;0.996	D	0.95804	0.8835	10	0.87932	D	0	-8.12	19.3764	0.94512	0.0:0.0:1.0:0.0	.	678;678;667;678;667	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	678;667;678;678;667;678;678	ENSP00000448165:D678N;ENSP00000353059:D667N;ENSP00000349862:D678N;ENSP00000341830:D678N;ENSP00000448449:D667N;ENSP00000449791:D678N;ENSP00000448161:D678N	ENSP00000341830:D678N	D	+	1	0	0	APAF1	97598297	97598297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.582000	0.87167	0.591000	0.81541	GAT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_181861.1			27	27		124	123	1		1	1		0	0	45	0		1	9.650036e-01	0	7	0	21	0	27	124
ANKS1B	56899	broad.mit.edu	37	12	99548174	99548174	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000547776.2	-	15	2419		c.e15-1		ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532																																						ENST00000547776.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.e15-1		ankyrin repeat and sterile alpha motif domain containing 1B							107.0	110.0	109.0					12																	99548174		1996	4158	6154	SO:0001630	splice_region_variant	56899	0	0					g.chr12:99548174C>A	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.2420-1G>T	chr12.hg19:g.99548174C>A		0					ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site		NM_152788.4	NP_690001.3	1	2	3	2.002308	Q7Z6G8	ANS1B_HUMAN		15	2419	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Splice_Site	SNP	ENST00000547776.2	0	1	hg19		CCDS55872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.761311|2.761311	0.49468|0.49468	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000547446;ENST00000550778|ENST00000549558;ENST00000550693;ENST00000549493;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|.	.|G	-|-	.|1	.|0	.|0	ANKS1B|ANKS1B	98072305|98072305	98072305|98072305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.450000|5.450000	0.66626|0.66626	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	.|GGA	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.526174	1	0.170000	NM_020140	Intron		55	55		200	194	1		1			0	0	49	0		1	0	0	0	0	0	0	55	200
ANKS1B	56899	broad.mit.edu	37	12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	522						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423																																						ENST00000547776.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				70						c.(1564-1566)Att>Gtt		ankyrin repeat and sterile alpha motif domain containing 1B							153.0	148.0	150.0					12																	99837462		1887	4109	5996	SO:0001583	missense	56899	0	0					g.chr12:99837462T>C	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.1564A>G	chr12.hg19:g.99837462T>C	ENSP00000449629:p.Ile522Val	0					ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V	p.I522V	NM_152788.4	NP_690001.3	1	2	3	2.002308	Q7Z6G8	ANS1B_HUMAN		11	1563	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	1	1	hg19	c.1564A>G	CCDS55872.1	1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61627	0.87;0.09;0.87;0.72	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56968	0.978;0.948;0.803	D;D;P	0.70227	0.968;0.949;0.847	T	0.65372	-0.6184	9	.	.	.	-11.2955	15.1596	0.72771	0.0:0.0:0.0:1.0	.	488;102;522	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	V	522;102;522;101;488	ENSP00000449629:I522V;ENSP00000448512:I102V;ENSP00000331381:I522V;ENSP00000449894:I488V	.	I	-	1	0	0	ANKS1B	98361593	98361593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.759000	0.74934	2.317000	0.78254	0.460000	0.39030	ATT	1.756059e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_020140			38	37		240	239	1		1	0		0	0	58	0		1	1.982715e-02	0	0	0	2	0	38	240
ZNF268	10795	broad.mit.edu	37	12	133780923	133780923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133780923G>T	ENST00000536435.2	+	6	2981	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	884					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATCAAAGAACTCATTCA	0.408																																						ENST00000536435.2			0	0																														0				24						c.(2650-2652)aGa>aTa		zinc finger protein 268							100.0	101.0	101.0					12																	133780923		692	1591	2283	SO:0001583	missense	10795	0	0					g.chr12:133780923G>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2651G>T	chr12.hg19:g.133780923G>T	ENSP00000444412:p.Arg884Ile						ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I	p.R884I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1					Q14587	ZN268_HUMAN		6	2981	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	0	1	hg19	c.2651G>T	CCDS45012.1		.	.	.	.	.	.	.	.	.	.	G	17.34	3.364244	0.61513	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565	T;T	0.02446	4.29;4.29	4.29	3.35	0.38373	4.29	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	L	0.55743	1.74	0.34802	D	0.736787	D	0.55800	0.973	P	0.48598	0.583	T	0.37526	-0.9702	8	.	.	.	.	9.1398	0.36897	0.0:0.1565:0.6828:0.1607	.	884	Q14587	ZN268_HUMAN	I	884;884;723	ENSP00000228289:R884I;ENSP00000445713:R723I	.	R	+	2	0	0	ZNF268	.	.	0.001000	0.12720	0.998000	0.56505	0.975000	0.68041	0.913000	0.28611	2.217000	0.71921	0.591000	0.81541	AGA			TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.987850	1	0.170000	NM_152943			11	10		44	44	1		1	1		0	0	9	0		9.987915e-01	9.913122e-01	0	6	0	31	0	11	44
TM9SF2	9375	broad.mit.edu	37	13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	329					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				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)					CTGCACAAAGATATTGCTAGA	0.353																																						ENST00000376387.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(985-987)gAt>gCt		transmembrane 9 superfamily member 2							223.0	202.0	209.0					13																	100193890		2203	4300	6503	SO:0001583	missense	9375	0	0					g.chr13:100193890A>C	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.986A>C	chr13.hg19:g.100193890A>C	ENSP00000365567:p.Asp329Ala	0						p.D329A	NM_004800.1	NP_004791.1	0	0	0	1.903942	Q99805	TM9S2_HUMAN		9	1176	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	1	1	hg19	c.986A>C	CCDS9493.1	1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828309	0.90955	.	.	ENSG00000125304	ENST00000376387	T	0.61742	0.08	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91589	0.5285	10	0.87932	D	0	-36.901	15.1335	0.72545	1.0:0.0:0.0:0.0	.	295;329	E9PHW5;Q99805	.;TM9S2_HUMAN	A	329	ENSP00000365567:D329A	ENSP00000365567:D329A	D	+	2	0	0	TM9SF2	98991891	98991891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.215000	0.95146	1.965000	0.57142	0.477000	0.44152	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3	1	0	0		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000				116	112		426	421	1		1	1		0	0	107	0		1	1	0	202	0	618	0	116	426
ZIC5	85416	broad.mit.edu	37	13	100617847	100617847	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577																																						ENST00000267294.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1774-1776)ggG>ggT		Zic family member 5							103.0	105.0	105.0					13																	100617847		2203	4300	6503	SO:0001819	synonymous_variant	85416	0	0					g.chr13:100617847C>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1776G>T	chr13.hg19:g.100617847C>A		0						p.G592G	NM_033132.3	NP_149123.2	0	0	0	1.903942	Q96T25	ZIC5_HUMAN		2	2009	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q5VYB0	Silent	SNP	ENST00000267294.4	1	1	hg19	c.1776G>T	CCDS9494.2	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_033132			104	102		541	526	1		1			0	0	122	0		1	0	0	0	0	0	0	104	541
ZIC2	7546	broad.mit.edu	37	13	100635292	100635292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100635292G>A	ENST00000376335.3	+	1	1267	c.974G>A	c.(973-975)cGc>cAc	p.R325H		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	325			R -> L (in HPE5). {ECO:0000269|PubMed:19177455}.|R -> S (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACCACATCCGCGTGCACACA	0.617																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3	0.420000	0.160000	3.500000e-01	2.100000e-01	0.270000	0.287358	0.270000	0.270000																										0				13						c.(973-975)cGc>cAc		Zic family member 2							112.0	119.0	117.0					13																	100635292		2203	4300	6503	SO:0001583	missense	7546	0	0					g.chr13:100635292G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.974G>A	chr13.hg19:g.100635292G>A	ENSP00000365514:p.Arg325His	0						p.R325H	NM_007129.3	NP_009060.2	0	0	0	1.903942	O95409	ZIC2_HUMAN		1	1267	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	0	1	hg19	c.974G>A	CCDS9495.1	0	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998919	0.93227	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.96104	-3.91	4.69	4.69	0.59074	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000006	D	0.96691	0.8920	L	0.53671	1.685	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	D	0.97228	0.9882	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	325	O95409	ZIC2_HUMAN	H	325;74	ENSP00000365514:R325H	ENSP00000365514:R325H	R	+	2	0	0	ZIC2	99433293	99433293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	0	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-2.995704	1	0.170000	NM_007129			17	17		676	666	0		1	0		0	0	134	0		9.999604e-01	5.125770e-02	0	1	0	13	0	17	676
ZIC2	7546	broad.mit.edu	37	13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	392					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				13						c.(1174-1176)cCc>cAc		Zic family member 2							150.0	124.0	132.0					13																	100637299		2203	4300	6503	SO:0001583	missense	7546	0	0					g.chr13:100637299C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1175C>A	chr13.hg19:g.100637299C>A	ENSP00000365514:p.Pro392His	0					ZIC2_ENST00000477213.1_3'UTR	p.P392H	NM_007129.3	NP_009060.2	0	0	0	1.903942	O95409	ZIC2_HUMAN		2	1468	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	1	1	hg19	c.1175C>A	CCDS9495.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896693	0.91962	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.17528	2.27	4.09	4.09	0.47781	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54227	-0.8325	10	0.87932	D	0	.	15.5713	0.76341	0.0:1.0:0.0:0.0	.	392	O95409	ZIC2_HUMAN	H	392;141	ENSP00000365514:P392H	ENSP00000365514:P392H	P	+	2	0	0	ZIC2	99435300	99435300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.553000	0.82203	2.241000	0.73720	0.655000	0.94253	CCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	1	0	0		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_007129			69	69		458	453	1		1	1		0	0	108	0		1	4.828765e-01	0	3	0	9	0	69	458
ZIC2	7546	broad.mit.edu	37	13	100637318	100637318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	398					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1192-1194)tgC>tgT		Zic family member 2							136.0	113.0	121.0					13																	100637318		2203	4300	6503	SO:0001819	synonymous_variant	7546	0	0					g.chr13:100637318C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1194C>T	chr13.hg19:g.100637318C>T		0					ZIC2_ENST00000477213.1_3'UTR	p.C398C	NM_007129.3	NP_009060.2	0	0	0	1.903942	O95409	ZIC2_HUMAN		2	1487	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	1	1	hg19	c.1194C>T	CCDS9495.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	1	0	0		2	2	2	0		0	0	112		112	112	1	2.060000	-4.294926	1	0.170000	NM_007129			112	111		393	390	1		1	1		0	0	112	0		1	7.811720e-01	0	7	0	5	0	112	393
TMTC4	84899	broad.mit.edu	37	13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000376234.3	-	18	2336	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G|TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	716						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433																																						ENST00000376234.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2146-2148)gAc>gGc		transmembrane and tetratricopeptide repeat containing 4							278.0	248.0	258.0					13																	101257327		2203	4300	6503	SO:0001583	missense	84899	0	0					g.chr13:101257327T>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2147A>G	chr13.hg19:g.101257327T>C	ENSP00000365408:p.Asp716Gly	0					TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G|TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G	p.D716G	NM_001079669.1	NP_001073137.1	0	0	0	1.903942	Q5T4D3	TMTC4_HUMAN		18	2336	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	1	1	hg19	c.2147A>G	CCDS41904.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661990	0.88251	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.65178	-0.14;-0.14;-0.14	6.15	6.15	0.99193	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.86740	2.835	0.80722	D	1	D;D;D	0.65815	0.994;0.977;0.995	D;D;D	0.71184	0.936;0.948;0.972	D	0.83781	0.0225	10	0.52906	T	0.07	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	605;716;735	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	G	716;735;605	ENSP00000365408:D716G;ENSP00000343871:D735G;ENSP00000365409:D605G	ENSP00000365409:D605G	D	-	2	0	0	TMTC4	100055328	100055328	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.690000	0.84178	2.363000	0.80096	0.523000	0.50628	GAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_032813			106	104		629	618	1		1	1		0	0	136	0		1	9.990336e-01	0	6	0	56	0	106	629
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000376234.3	-	10	1424	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	412						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527																																						ENST00000376234.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.991682	0.990000	1.000000																										0				34						c.(1234-1236)cGt>cAt		transmembrane and tetratricopeptide repeat containing 4							75.0	68.0	70.0					13																	101287360		2203	4300	6503	SO:0001583	missense	84899	3	121412	31				g.chr13:101287360C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1235G>A	chr13.hg19:g.101287360C>T	ENSP00000365408:p.Arg412His	0					TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H	p.R412H	NM_001079669.1	NP_001073137.1	0	0	0	1.903942	Q5T4D3	TMTC4_HUMAN		10	1424	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	1	1	hg19	c.1235G>A	CCDS41904.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789938	0.90367	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69685	-0.42;-0.42;-0.42	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95611	3.695	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;0.997;0.997	D	0.91246	0.5025	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	301;412;412;431	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	H	412;431;301	ENSP00000365408:R412H;ENSP00000343871:R431H;ENSP00000365409:R301H	ENSP00000365409:R301H	R	-	2	0	0	TMTC4	100085361	100085361	1.000000	0.71417	0.955000	0.39395	0.438000	0.31896	7.693000	0.84214	2.584000	0.87258	0.563000	0.77884	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-12.133740	1	0.170000	NM_032813			24	23		171	169	1		1	1		0	0	36	0		9.999998e-01	9.740240e-01	0	12	0	33	0	24	171
TMTC4	84899	broad.mit.edu	37	13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000376234.3	-	9	1212	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	341						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCAGCCCATTGACCAAT	0.502																																						ENST00000376234.3	0.510000	0.180000	4.200000e-01	2.400000e-01	0.320000	0.338926	0.320000	0.320000																										0				34						c.(1021-1023)atG>atA		transmembrane and tetratricopeptide repeat containing 4							136.0	128.0	131.0					13																	101288908		2203	4300	6503	SO:0001583	missense	84899	0	0					g.chr13:101288908C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1023G>A	chr13.hg19:g.101288908C>T	ENSP00000365408:p.Met341Ile	0					TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I	p.M341I	NM_001079669.1	NP_001073137.1	0	0	0	1.903942	Q5T4D3	TMTC4_HUMAN		9	1212	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	1	1	hg19	c.1023G>A	CCDS41904.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.229546	0.95173	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	6.17	6.17	0.99709	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.91140	3.18	0.80722	D	1	P;D;D;P	0.63046	0.94;0.992;0.977;0.929	P;D;P;P	0.64144	0.897;0.922;0.893;0.614	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;341;341;360	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	341;360;230	ENSP00000365408:M341I;ENSP00000343871:M360I;ENSP00000365409:M230I	ENSP00000365409:M230I	M	-	3	0	0	TMTC4	100086909	100086909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	0	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-2.599740	1	0.170000	NM_032813			14	14		473	462	0		1	0		0	0	108	0		9.997189e-01	1.802565e-01	0	0	0	25	0	14	473
NALCN	259232	broad.mit.edu	37	13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1671					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542																																						ENST00000251127.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999610	0.990000	1.000000																										0				177						c.(5011-5013)Cgt>Tgt		sodium leak channel, non-selective		G	CYS/ARG	0,4406		0,0,2203	91.0	93.0	92.0		5011	4.4	1.0	13	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NALCN	NM_052867.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1671/1739	101710303	1,13005	2203	4300	6503	SO:0001583	missense	259232	1	121412	37				g.chr13:101710303G>A	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.5011C>T	chr13.hg19:g.101710303G>A	ENSP00000251127:p.Arg1671Cys	0					NALCN-AS1_ENST00000457843.1_RNA	p.R1671C	NM_052867.2	NP_443099.1	0	0	0	1.903942	Q8IZF0	NALCN_HUMAN		43	5092	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	1	1	hg19	c.5011C>T	CCDS9498.1	1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587370	0.66105	0.0	1.16E-4	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.29	4.45	0.53987	5.29	4.45	0.53987	.	0.103999	0.64402	N	0.000003	D	0.93223	0.7841	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44278	0.445	D	0.93482	0.6828	10	0.66056	D	0.02	.	11.949	0.52944	0.1454:0.0:0.8546:0.0	.	1671	Q8IZF0	NALCN_HUMAN	C	1671	ENSP00000251127:R1671C	ENSP00000251127:R1671C	R	-	1	0	0	NALCN	100508304	100508304	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.238000	0.58688	1.221000	0.43506	0.655000	0.94253	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.221946	1	0.170000	NM_052867			51	50		343	343	0		1	0		0	0	103	0		1	8.894323e-01	0	0	0	28	0	51	343
NALCN	259232	broad.mit.edu	37	13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1573					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637																																						ENST00000251127.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				177						c.(4717-4719)cGc>cAc		sodium leak channel, non-selective							125.0	90.0	102.0					13																	101714357		2203	4300	6503	SO:0001583	missense	259232	1	121412	27				g.chr13:101714357C>T	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.4718G>A	chr13.hg19:g.101714357C>T	ENSP00000251127:p.Arg1573His	0					NALCN-AS1_ENST00000457843.1_RNA	p.R1573H	NM_052867.2	NP_443099.1	0	0	0	1.903942	Q8IZF0	NALCN_HUMAN		41	4799	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	1	1	hg19	c.4718G>A	CCDS9498.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.441723	0.96187	.	.	ENSG00000102452	ENST00000251127	D	0.98090	-4.71	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99379	1.0922	10	0.72032	D	0.01	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1573	Q8IZF0	NALCN_HUMAN	H	1573	ENSP00000251127:R1573H	ENSP00000251127:R1573H	R	-	2	0	0	NALCN	100512358	100512358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.245861	1	0.170000	NM_052867			60	57		302	298	1		1	0		0	0	57	0		1	9.489653e-01	0	0	0	27	0	60	302
NALCN	259232	broad.mit.edu	37	13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1238					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522																																						ENST00000251127.6	0.870000	0.340000	7.200000e-01	4.400000e-01	0.570000	0.591310	0.570000	0.560000																										0				177						c.(3712-3714)Acc>Gcc		sodium leak channel, non-selective							126.0	113.0	117.0					13																	101735213		2203	4300	6503	SO:0001583	missense	259232	0	0					g.chr13:101735213T>C	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.3712A>G	chr13.hg19:g.101735213T>C	ENSP00000251127:p.Thr1238Ala	0						p.T1238A	NM_052867.2	NP_443099.1	0	0	0	1.903942	Q8IZF0	NALCN_HUMAN		33	3793	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	1	1	hg19	c.3712A>G	CCDS9498.1	0	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625989	0.46840	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.048760	0.85682	D	0.000000	D	0.95818	0.8639	L	0.57536	1.79	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	D	0.93815	0.7113	10	0.41790	T	0.15	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	1238	Q8IZF0	NALCN_HUMAN	A	1238	ENSP00000251127:T1238A	ENSP00000251127:T1238A	T	-	1	0	0	NALCN	100533214	100533214	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.613000	0.82986	2.137000	0.66172	0.528000	0.53228	ACC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-18.232110	1	0.170000	NM_052867			16	16		297	287	0		1	0		0	0	77	0		9.999206e-01	2.541047e-01	0	0	0	18	0	16	297
NALCN	259232	broad.mit.edu	37	13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328																																						ENST00000251127.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(2122-2124)cGc>cAc		sodium leak channel, non-selective							122.0	117.0	119.0					13																	101777028		2203	4300	6503	SO:0001583	missense	259232	2	121412	37				g.chr13:101777028C>T	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.2123G>A	chr13.hg19:g.101777028C>T	ENSP00000251127:p.Arg708His	0						p.R708H	NM_052867.2	NP_443099.1	0	0	0	1.903942	Q8IZF0	NALCN_HUMAN		18	2204	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	1	1	hg19	c.2123G>A	CCDS9498.1	1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087110	0.55861	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.048229	0.85682	D	0.000000	D	0.93864	0.8037	N	0.14661	0.345	0.80722	D	1	P	0.38420	0.63	B	0.37047	0.24	D	0.92981	0.6406	10	0.24483	T	0.36	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	708	Q8IZF0	NALCN_HUMAN	H	708	ENSP00000251127:R708H	ENSP00000251127:R708H	R	-	2	0	0	NALCN	100575029	100575029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_052867			87	86		440	433	1		1	0		0	0	104	0		1	9.413097e-01	0	0	0	26	0	87	440
FGF14	2259	broad.mit.edu	37	13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	36					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)			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)					AGCCCGCGGTTCTTGCTGGGG	0.672																																						ENST00000376143.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999783	0.990000	1.000000																										0				29						c.(106-108)Aac>Cac		fibroblast growth factor 14							37.0	34.0	35.0					13																	102568890		2203	4300	6503	SO:0001583	missense	2259	0	0					g.chr13:102568890T>G		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.106A>C	chr13.hg19:g.102568890T>G	ENSP00000365313:p.Asn36His	0					FGF14_ENST00000376131.4_Intron	p.N36H	NM_004115.3	NP_004106.1	0	0	0	1.903942	Q92915	FGF14_HUMAN		1	105	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	1	1	hg19	c.106A>C	CCDS9501.1	1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274869	0.59649	.	.	ENSG00000102466	ENST00000376143	T	0.77358	-1.09	5.28	4.02	0.46733	5.28	4.02	0.46733	.	.	.	.	.	T	0.66934	0.2840	L	0.34521	1.04	0.38969	D	0.958714	B	0.33073	0.396	B	0.32022	0.139	T	0.70245	-0.4925	9	0.48119	T	0.1	.	11.5774	0.50869	0.0:0.0:0.1492:0.8508	.	36	Q92915	FGF14_HUMAN	H	36	ENSP00000365313:N36H	ENSP00000365313:N36H	N	-	1	0	0	FGF14	101366891	101366891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.493000	0.60341	1.989000	0.58080	0.460000	0.39030	AAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2	1	0	0		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000				35	35		184	179	0		1	0		0	0	44	0		1	0	0	0	0	1	0	35	184
TPP2	7174	broad.mit.edu	37	13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376065.4	+	1	110	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376052.3_Missense_Mutation_p.S25Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	25					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)			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)					GGAGCCGCCTCCTTCCTCTGC	0.682																																						ENST00000376065.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0				52						c.(73-75)tCc>tAc		tripeptidyl peptidase II							13.0	16.0	15.0					13																	103249462		2167	4244	6411	SO:0001583	missense	7174	0	0					g.chr13:103249462C>A	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.74C>A	chr13.hg19:g.103249462C>A	ENSP00000365233:p.Ser25Tyr	0					TPP2_ENST00000376052.3_Missense_Mutation_p.S25Y	p.S25Y	NM_003291.2	NP_003282.2	0	0	0	1.903942	P29144	TPP2_HUMAN		1	110	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	1	1	hg19	c.74C>A	CCDS9502.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839087	0.71373	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.45276	0.9;0.9	5.37	4.53	0.55603	5.37	4.53	0.55603	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.349320	0.30501	N	0.009485	T	0.33876	0.0878	L	0.48642	1.525	0.49299	D	0.999778	P	0.39576	0.679	B	0.35413	0.202	T	0.20174	-1.0283	10	0.66056	D	0.02	.	9.7119	0.40251	0.0:0.7857:0.1404:0.0739	.	25	P29144	TPP2_HUMAN	Y	25	ENSP00000365233:S25Y;ENSP00000365220:S25Y	ENSP00000365220:S25Y	S	+	2	0	0	TPP2	102047463	102047463	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.876000	0.63079	1.261000	0.44149	0.650000	0.86243	TCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	1	0	1		2	2	2	0		0	0	17		17	15	1	2.060000	-20.000000	1	0.170000				28	27		106	102	0		1	1		0	0	17	0		1	9.937634e-01	0	7	0	27	0	28	106
TPP2	7174	broad.mit.edu	37	13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376065.4	+	12	1502	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376052.3_Missense_Mutation_p.A489D	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	489	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)			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)					GCAGTGAAGGCTGACAATATA	0.333																																						ENST00000376065.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1465-1467)gCt>gAt		tripeptidyl peptidase II							117.0	117.0	117.0					13																	103288009		2203	4300	6503	SO:0001583	missense	7174	0	0					g.chr13:103288009C>A	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.1466C>A	chr13.hg19:g.103288009C>A	ENSP00000365233:p.Ala489Asp	0					TPP2_ENST00000376052.3_Missense_Mutation_p.A489D	p.A489D	NM_003291.2	NP_003282.2	0	0	0	1.903942	P29144	TPP2_HUMAN		12	1502	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	1	1	hg19	c.1466C>A	CCDS9502.1	1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258655	0.59321	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88354	-2.37;-2.37	5.83	5.83	0.93111	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.158737	0.56097	D	0.000033	D	0.87111	0.6096	L	0.33710	1.025	0.50467	D	0.999874	P	0.49253	0.921	P	0.48952	0.596	D	0.86781	0.1979	10	0.45353	T	0.12	.	14.3065	0.66389	0.0:0.9295:0.0:0.0705	.	489	P29144	TPP2_HUMAN	D	489	ENSP00000365233:A489D;ENSP00000365220:A489D	ENSP00000365220:A489D	A	+	2	0	0	TPP2	102086010	102086010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.766000	0.55280	2.763000	0.94921	0.563000	0.77884	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				70	69		343	339	1		1	1		0	0	75	0		1	9.999799e-01	0	15	0	64	0	70	343
KDELC1	79070	broad.mit.edu	37	13	103440220	103440220	+	Silent	SNP	G	G	A	rs377423123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	449						endoplasmic reticulum lumen (GO:0005788)				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)					ATATGTCATCGCCCATGAGAT	0.323																																						ENST00000376004.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				19						c.(1345-1347)ggC>ggT		KDEL (Lys-Asp-Glu-Leu) containing 1							108.0	101.0	103.0					13																	103440220		2202	4299	6501	SO:0001819	synonymous_variant	79070	2	121406	38				g.chr13:103440220G>A	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.1347C>T	chr13.hg19:g.103440220G>A		0					KDELC1_ENST00000460338.1_5'UTR	p.G449G	NM_024089.2	NP_076994.2	0	0	0	1.903942	Q6UW63	KDEL1_HUMAN		8	1683	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	1	1	hg19	c.1347C>T	CCDS9504.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				63	61		328	321	1		1	1		0	0	70	0		1	9.991474e-01	0	8	0	49	0	63	328
KDELC1	79070	broad.mit.edu	37	13	103441551	103441551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	368						endoplasmic reticulum lumen (GO:0005788)				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)					CAGTGCCATCGATATTTATTT	0.393																																						ENST00000376004.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				19						c.(1102-1104)atC>atT		KDEL (Lys-Asp-Glu-Leu) containing 1							89.0	87.0	87.0					13																	103441551		2203	4300	6503	SO:0001819	synonymous_variant	79070	0	0					g.chr13:103441551G>A	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.1104C>T	chr13.hg19:g.103441551G>A		0					KDELC1_ENST00000460338.1_5'UTR	p.I368I	NM_024089.2	NP_076994.2	0	0	0	1.903942	Q6UW63	KDEL1_HUMAN		7	1440	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	1	1	hg19	c.1104C>T	CCDS9504.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-2.895024	1	0.170000				49	48		260	254	0		1	1		0	0	58	0		1	9.997368e-01	0	9	0	59	0	49	260
KDELC1	79070	broad.mit.edu	37	13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	BIVM_ENST00000448849.2_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen (GO:0005788)				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)					CGGGTCCCCATATTTCGCTCT	0.532																																						ENST00000376004.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(100-102)atA>atG		KDEL (Lys-Asp-Glu-Leu) containing 1							75.0	71.0	72.0					13																	103450919		2203	4300	6503	SO:0001583	missense	79070	0	0					g.chr13:103450919T>C	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.102A>G	chr13.hg19:g.103450919T>C	ENSP00000365172:p.Ile34Met	0					BIVM_ENST00000419638.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000448849.2_5'Flank	p.I34M	NM_024089.2	NP_076994.2	0	0	0	1.903942	Q6UW63	KDEL1_HUMAN		1	438	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	1	1	hg19	c.102A>G	CCDS9504.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011978	0.75046	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.32	4.14	0.48551	5.32	4.14	0.48551	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.28001	0.0690	L	0.36672	1.1	0.32461	N	0.544094	B	0.20780	0.048	B	0.39185	0.293	T	0.41520	-0.9504	10	0.87932	D	0	.	10.5719	0.45204	0.0:0.0763:0.0:0.9237	.	34	Q6UW63	KDEL1_HUMAN	M	34	ENSP00000365172:I34M	ENSP00000365172:I34M	I	-	3	3	3	KDELC1	102248920	102248920	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.226000	0.17776	2.141000	0.66446	0.528000	0.53228	ATA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				59	59		245	242	1		1	1		0	0	46	0		1	9.996973e-01	0	3	0	50	0	59	245
ERCC5	2073	broad.mit.edu	37	13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S|ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	38	N-domain.				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)			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)					TTAAACCAAGCACTTAAAGGA	0.378			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998803	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (G)	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	13q33	2073	Mis, N, F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""				E	E		skin basal cell, skin squamous cell, melanoma			0				51						c.(112-114)gCa>gTa	Nucleotide excision repair (NER)	excision repair cross-complementation group 5							117.0	120.0	119.0					13																	103504492		2203	4300	6503	SO:0001583	missense	2073	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr13:103504492C>T	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.113C>T	chr13.hg19:g.103504492C>T	ENSP00000347978:p.Ala38Val	0					BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S|ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V	p.A38V	NM_000123.3	NP_000114	0	0	0	1.903942	P28715	ERCC5_HUMAN		2	1536	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	1	1	hg19	c.113C>T	CCDS32004.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456982	0.43634	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	5.39	5.39	0.77823	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39147	1.195	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.999	D;D;D	0.85130	0.928;0.95;0.997	T	0.71388	-0.4608	10	0.38643	T	0.18	-22.3169	19.1376	0.93435	0.0:1.0:0.0:0.0	.	38;38;463	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	463;38;38	ENSP00000347978:A38V;ENSP00000442117:A38V	ENSP00000347978:A38V	A	+	2	0	0	ERCC5	102302493	102302493	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.426000	0.80270	2.514000	0.84764	0.579000	0.79373	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-18.201210	1	0.170000				43	39		299	294	1		1	1		0	0	75	0		1	9.932798e-01	0	17	0	39	0	43	299
EFNB2	1948	broad.mit.edu	37	13	107145730	107145730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	220					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)			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)					CGGAACCGAGGATGTTGTTCC	0.532																																						ENST00000245323.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				13						c.(658-660)atC>atA		ephrin-B2							129.0	99.0	109.0					13																	107145730		2203	4300	6503	SO:0001819	synonymous_variant	1948	0	0					g.chr13:107145730G>T	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.660C>A	chr13.hg19:g.107145730G>T		0						p.I220I	NM_004093.3	NP_004084.1	0	0	0	1.903942	P52799	EFNB2_HUMAN		5	809	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		Q5JV56	Silent	SNP	ENST00000245323.4	1	1	hg19	c.660C>A	CCDS9507.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_004093			62	59		350	346	1		1	1		0	0	105	0		1	9.999970e-01	0	24	0	82	0	62	350
ARGLU1	55082	broad.mit.edu	37	13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000472226.1_5'Flank|ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478																																						ENST00000400198.3	0.730000	0.400000	6.500000e-01	4.800000e-01	0.550000	0.569611	0.550000	0.560000																										0				7						c.(475-477)Cga>Tga		arginine and glutamate rich 1							173.0	170.0	171.0					13																	107211878		1896	4124	6020	SO:0001587	stop_gained	55082	0	0					g.chr13:107211878G>A	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.475C>T	chr13.hg19:g.107211878G>A	ENSP00000383059:p.Arg159*	0					ARGLU1_ENST00000472226.1_5'Flank|ARGLU1_ENST00000375926.1_Silent_p.S8S	p.R159*	NM_018011.3	NP_060481.3	0	0	0	1.903942	Q9NWB6	ARGL1_HUMAN		2	719	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		B4E0Y3|Q5T257|Q6IQ34	Nonsense_Mutation	SNP	ENST00000400198.3	0	1	hg19	c.475C>T	CCDS41906.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.386779	0.98252	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	4.66	0.58398	5.51	4.66	0.58398	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2596	16.3132	0.82904	0.0:0.1324:0.8676:0.0	.	.	.	.	X	159;109	.	ENSP00000383059:R159X	R	-	1	2	2	ARGLU1	106009879	106009879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	1.308000	0.44962	0.655000	0.94253	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-2.364002	0	0.170000	NM_018011			42	41		795	789	0		1	1		0	0	131	0		1	9.999645e-01	0	4	0	278	0	42	795
FAM155A	728215	broad.mit.edu	37	13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	43						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562																																						ENST00000375915.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(127-129)Gca>Aca		family with sequence similarity 155, member A							145.0	155.0	152.0					13																	108518818		2203	4300	6503	SO:0001583	missense	728215	0	0					g.chr13:108518818C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.127G>A	chr13.hg19:g.108518818C>T	ENSP00000365080:p.Ala43Thr	0						p.A43T	NM_001080396.2	NP_001073865.1	0	0	0	1.903942	B1AL88	F155A_HUMAN		1	265	-			B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	1	1	hg19	c.127G>A	CCDS32006.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719839	0.89205	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	43	B1AL88	F155A_HUMAN	T	43	.	ENSP00000365080:A43T	A	-	1	0	0	FAM155A	107316819	107316819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.390000	0.81377	0.650000	0.86243	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	1	0	1		2	2	2	0		0	0	201		201	201	1	2.060000	-20.000000	1	0.170000	NM_001080396			166	165		908	889	1		1			0	0	201	0		1	0	0	0	0	0	0	166	908
LIG4	3981	broad.mit.edu	37	13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000442234.1_Missense_Mutation_p.L845P|LIG4_ENST00000405925.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	845	BRCT 2. {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)			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)					ATGAAACCGAAGCTCCAAGGC	0.403								Non-homologous end-joining																														ENST00000356922.4	0.510000	0.150000	4.100000e-01	2.200000e-01	0.300000	0.319368	0.300000	0.290000																										0				42						c.(2533-2535)cTt>cCt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							100.0	99.0	99.0					13																	108861083		2203	4300	6503	SO:0001583	missense	3981	0	0					g.chr13:108861083A>G	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.2534T>C	chr13.hg19:g.108861083A>G	ENSP00000349393:p.Leu845Pro	0					LIG4_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_Missense_Mutation_p.L845P	p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	0	0	0	1.903942	P49917	DNLI4_HUMAN		2	2806	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	1	1	hg19	c.2534T>C	CCDS9508.1	0	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214628	0.79352	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.81499	-1.5;-1.5;-1.5	5.75	5.75	0.90469	5.75	5.75	0.90469	BRCT (4);	0.193178	0.45606	D	0.000356	D	0.89136	0.6629	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90222	0.4272	10	0.72032	D	0.01	.	15.2891	0.73852	1.0:0.0:0.0:0.0	.	845	P49917	DNLI4_HUMAN	P	845	ENSP00000385955:L845P;ENSP00000402030:L845P;ENSP00000349393:L845P	ENSP00000349393:L845P	L	-	2	0	0	LIG4	107659084	107659084	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.652000	0.91083	2.209000	0.71365	0.462000	0.41574	CTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	0	0	0		2	2	2	0		0	0	69		69	66	1	2.060000	-3.155651	1	0.170000	NM_002312			10	10		367	363	0		1	1		0	0	69	0		9.968054e-01	3.304213e-01	0	3	0	38	0	10	367
LIG4	3981	broad.mit.edu	37	13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000442234.1_Missense_Mutation_p.A839D|LIG4_ENST00000405925.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	839	BRCT 2. {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)			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)					GGCTTTAATAGCTAACCTTGT	0.423								Non-homologous end-joining																														ENST00000356922.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				42						c.(2515-2517)gCt>gAt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							101.0	98.0	99.0					13																	108861101		2203	4300	6503	SO:0001583	missense	3981	0	0					g.chr13:108861101G>T	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.2516C>A	chr13.hg19:g.108861101G>T	ENSP00000349393:p.Ala839Asp	0					LIG4_ENST00000405925.1_Missense_Mutation_p.A839D|LIG4_ENST00000442234.1_Missense_Mutation_p.A839D	p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	0	0	0	1.903942	P49917	DNLI4_HUMAN		2	2788	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	1	1	hg19	c.2516C>A	CCDS9508.1	1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011445	0.07912	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61859	0.07;0.07;0.07	5.75	4.0	0.46444	5.75	4.0	0.46444	BRCT (3);	0.685891	0.14801	N	0.297615	T	0.39733	0.1089	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	10	0.11485	T	0.65	.	5.5759	0.17222	0.075:0.1454:0.638:0.1415	.	839	P49917	DNLI4_HUMAN	D	839	ENSP00000385955:A839D;ENSP00000402030:A839D;ENSP00000349393:A839D	ENSP00000349393:A839D	A	-	2	0	0	LIG4	107659102	107659102	0.868000	0.29978	0.181000	0.23098	0.713000	0.41058	1.955000	0.40372	0.769000	0.33313	0.567000	0.79289	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_002312			59	58		306	301	1		1	1		0	0	64	0		1	9.149282e-01	0	3	0	21	0	59	306
LIG4	3981	broad.mit.edu	37	13	108861894	108861894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861894T>C	ENST00000356922.4	-	2	1995	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LIG4_ENST00000442234.1_Missense_Mutation_p.T575A|LIG4_ENST00000405925.1_Missense_Mutation_p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	575					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)			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)					AAACGCAAGGTGCAGCCAGTT	0.438								Non-homologous end-joining																														ENST00000356922.4	0.540000	0.150000	4.300000e-01	2.200000e-01	0.310000	0.331554	0.310000	0.300000																										0				42						c.(1723-1725)Acc>Gcc	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							94.0	88.0	90.0					13																	108861894		2203	4300	6503	SO:0001583	missense	3981	0	0					g.chr13:108861894T>C	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.1723A>G	chr13.hg19:g.108861894T>C	ENSP00000349393:p.Thr575Ala	0					LIG4_ENST00000405925.1_Missense_Mutation_p.T575A|LIG4_ENST00000442234.1_Missense_Mutation_p.T575A	p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	0	0	0	1.903942	P49917	DNLI4_HUMAN		2	1995	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	0	1	hg19	c.1723A>G	CCDS9508.1	0	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549948	0.65311	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61627	0.09;0.09;0.09	5.74	5.74	0.90152	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.42487	1.325	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.67776	-0.5583	10	0.48119	T	0.1	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	575	P49917	DNLI4_HUMAN	A	575	ENSP00000385955:T575A;ENSP00000402030:T575A;ENSP00000349393:T575A	ENSP00000349393:T575A	T	-	1	0	0	LIG4	107659895	107659895	1.000000	0.71417	0.836000	0.33094	0.969000	0.65631	7.975000	0.88055	2.178000	0.69098	0.450000	0.29827	ACC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	0	0	1		22	5	2	1		1	1	43		43	42	1	2.060000	-9.785917	1	0.170000	NM_002312			9	9		320	312	0		0	0		1	0	43	0		1.048526e-02	1.095467e-02	0	0	0	40	0	9	320
LIG4	3981	broad.mit.edu	37	13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	525					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)			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)					AAGGCTTCCAATACTTGGCCA	0.428								Non-homologous end-joining																														ENST00000356922.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1573-1575)taT>taG	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							95.0	101.0	99.0					13																	108862042		2203	4300	6503	SO:0001587	stop_gained	3981	0	0					g.chr13:108862042A>C	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.1575T>G	chr13.hg19:g.108862042A>C	ENSP00000349393:p.Tyr525*	0					LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*	p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	0	0	0	1.903942	P49917	DNLI4_HUMAN		2	1847	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	ENST00000356922.4	0	1	hg19	c.1575T>G	CCDS9508.1	1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727245	0.69074	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.28	-5.29	0.02747	5.28	-5.29	0.02747	.	0.202657	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.6139	0.99472	0.131:0.0:0.869:0.0	.	.	.	.	X	525	.	ENSP00000349393:Y525X	Y	-	3	2	2	LIG4	107660043	107660043	0.389000	0.25205	0.066000	0.19879	0.178000	0.23041	-0.339000	0.07832	-0.874000	0.04027	-0.421000	0.06004	TAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_002312			103	101		513	502	1		1	1		0	0	115	0		1	9.907295e-01	0	7	0	31	0	103	513
LIG4	3981	broad.mit.edu	37	13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C|LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	130					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)			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)					CAACACAAAATATGCAATCAT	0.373								Non-homologous end-joining																														ENST00000356922.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(388-390)tAt>tGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							125.0	132.0	130.0					13																	108863228		2203	4300	6503	SO:0001583	missense	3981	0	0					g.chr13:108863228T>C	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.389A>G	chr13.hg19:g.108863228T>C	ENSP00000349393:p.Tyr130Cys	0					LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C|LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C	p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	0	0	0	1.903942	P49917	DNLI4_HUMAN		2	661	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	1	1	hg19	c.389A>G	CCDS9508.1	1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499143	0.64298	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	5.84	5.84	0.93424	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	T	0.23833	-1.0177	10	0.39692	T	0.17	.	15.4025	0.74852	0.0:0.0:0.0:1.0	.	130	P49917	DNLI4_HUMAN	C	130	ENSP00000385955:Y130C;ENSP00000402030:Y130C;ENSP00000349393:Y130C	ENSP00000349393:Y130C	Y	-	2	0	0	LIG4	107661229	107661229	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.633000	0.83260	2.232000	0.73038	0.523000	0.50628	TAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	1		2	2	2	0		0	0	167		167	167	1	2.060000	-20.000000	1	0.170000	NM_002312			148	145		571	567	1		1	1		0	0	167	0		1	9.995778e-01	0	8	0	38	0	148	571
ABHD13	84945	broad.mit.edu	37	13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	109						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			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)					ATACACTGGAGACAATTCACC	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				17						c.(325-327)Gac>Aac		abhydrolase domain containing 13							80.0	75.0	76.0					13																	108881891		2203	4299	6502	SO:0001583	missense	84945	0	0					g.chr13:108881891G>A	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.325G>A	chr13.hg19:g.108881891G>A	ENSP00000365063:p.Asp109Asn	0						p.D109N	NM_032859.2	NP_116248.2	0	0	0	1.903942	Q7L211	ABHDD_HUMAN		2	626	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	1	1	hg19	c.325G>A	CCDS32007.1	1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059846	0.36373	.	.	ENSG00000139826	ENST00000375898	T	0.19806	2.12	5.89	5.04	0.67666	5.89	5.04	0.67666	.	0.103313	0.64402	D	0.000004	T	0.12092	0.0294	N	0.10874	0.06	0.52501	D	0.999955	B	0.19445	0.036	B	0.12837	0.008	T	0.13791	-1.0496	10	0.25106	T	0.35	-23.612	14.5609	0.68136	0.0711:0.0:0.9289:0.0	.	109	Q7L211	ABHDD_HUMAN	N	109	ENSP00000365063:D109N	ENSP00000365063:D109N	D	+	1	0	0	ABHD13	107679892	107679892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.788000	0.95919	0.557000	0.71058	GAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_032859			47	47		226	219	1		1	1		0	0	70	0		1	9.999996e-01	0	16	0	95	0	47	226
MYO16	23026	broad.mit.edu	37	13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000357550.2	+	8	1063	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	NM_001198950.1	NP_001185879.1			myosin XVI									p.S341L(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)			CCCGTACTGTCGAGTAAGCTG	0.428																																						ENST00000357550.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S341L(1)	endometrium(1)	121						c.(1021-1023)tCg>tTg		myosin XVI							144.0	146.0	145.0					13																	109475617		2203	4300	6503	SO:0001583	missense	23026	1	121410	28				g.chr13:109475617C>T		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.1022C>T	chr13.hg19:g.109475617C>T	ENSP00000350160:p.Ser341Leu	0					MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	p.S341L	NM_001198950.1	NP_001185879.1	0	0	0	1.903942			BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)	8	1063	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)			Missense_Mutation	SNP	ENST00000357550.2	1	1	hg19	c.1022C>T	CCDS32008.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902418	0.33628	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80824	-1.42;-1.42;-1.17	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.181955	0.26432	U	0.024419	T	0.75729	0.3889	L	0.57536	1.79	0.80722	D	1	P;B	0.37122	0.583;0.398	B;B	0.30401	0.115;0.062	T	0.75459	-0.3310	9	.	.	.	.	16.2063	0.82133	0.0:1.0:0.0:0.0	.	341;341	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	341;341;341;341;129	ENSP00000349145:S341L;ENSP00000350160:S341L;ENSP00000251041:S341L	.	S	+	2	0	0	MYO16	108273618	108273618	0.923000	0.31300	0.339000	0.25562	0.078000	0.17371	3.263000	0.51546	2.499000	0.84300	0.585000	0.79938	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_015011			115	113		556	547	1		1			0	0	96	0		1	0	0	0	0	0	0	115	556
MYO16	23026	broad.mit.edu	37	13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000357550.2	+	20	2408	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D	NM_001198950.1	NP_001185879.1			myosin XVI											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)			AAAAGAATGAATTTGAACAAG	0.308																																						ENST00000357550.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				121						c.(2365-2367)gaA>gaC		myosin XVI							126.0	121.0	123.0					13																	109644787		2201	4298	6499	SO:0001583	missense	23026	0	0					g.chr13:109644787A>C		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.2367A>C	chr13.hg19:g.109644787A>C	ENSP00000350160:p.Glu789Asp	0					MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D|MYO16_ENST00000457511.2_Missense_Mutation_p.E301D	p.E789D	NM_001198950.1	NP_001185879.1	0	0	0	1.903942			BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)	20	2408	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)			Missense_Mutation	SNP	ENST00000357550.2	1	1	hg19	c.2367A>C	CCDS32008.1	1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877850	0.51801	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.12	-0.171	0.13331	5.12	-0.171	0.13331	Myosin head, motor domain (3);	0.438833	0.16942	U	0.193259	T	0.74749	0.3757	N	0.24115	0.695	0.27897	N	0.939132	P;P;P	0.39424	0.622;0.622;0.673	B;B;B	0.42738	0.275;0.217;0.396	T	0.65249	-0.6214	9	.	.	.	.	0.9351	0.01343	0.4462:0.1429:0.2545:0.1564	.	301;789;789	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	789;789;789;789;577;301	ENSP00000349145:E789D;ENSP00000350160:E789D;ENSP00000251041:E789D;ENSP00000401633:E301D	.	E	+	3	2	2	MYO16	108442788	108442788	0.970000	0.33590	0.996000	0.52242	0.995000	0.86356	-0.061000	0.11693	-0.246000	0.09611	0.460000	0.39030	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_015011			39	38		144	143	1		1	1		0	0	32	0		1	4.652857e-01	0	6	0	1	0	39	144
MYO16	23026	broad.mit.edu	37	13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000357550.2	+	32	5206	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I	NM_001198950.1	NP_001185879.1			myosin XVI											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)			ACTTCCGAGACTCAAGACAGA	0.323																																						ENST00000357550.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998708	0.990000	1.000000																										0				121						c.(5164-5166)aCt>aTt		myosin XVI							59.0	56.0	57.0					13																	109817315		2203	4299	6502	SO:0001583	missense	23026	0	0					g.chr13:109817315C>T		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.5165C>T	chr13.hg19:g.109817315C>T	ENSP00000350160:p.Thr1722Ile	0					MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I	p.T1722I	NM_001198950.1	NP_001185879.1	0	0	0	1.903942			BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)	32	5206	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)			Missense_Mutation	SNP	ENST00000357550.2	1	1	hg19	c.5165C>T	CCDS32008.1	1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745984	0.49151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80566	-1.39;-1.39	5.49	4.64	0.57946	5.49	4.64	0.57946	.	0.000000	0.41823	U	0.000818	T	0.74921	0.3780	L	0.60455	1.87	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.70831	-0.4765	9	.	.	.	.	10.7029	0.45937	0.0:0.9123:0.0:0.0877	.	1722	Q9Y6X6	MYO16_HUMAN	I	1722	ENSP00000349145:T1722I;ENSP00000350160:T1722I	.	T	+	2	0	0	MYO16	108615316	108615316	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.983000	0.40648	2.579000	0.87056	0.557000	0.71058	ACT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015011			23	23		116	111	0		1	1		0	0	40	0		9.999995e-01	1.392786e-01	0	3	0	1	0	23	116
IRS2	8660	broad.mit.edu	37	13	110435097	110435097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	ENST00000375856.3	-	1	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1102					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCGACGTCGGGCTGGCC	0.701																																					Melanoma(100;613 2409 40847)	ENST00000375856.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997910	0.990000	1.000000																										0				19						c.(3304-3306)Acg>Gcg		insulin receptor substrate 2							5.0	7.0	6.0					13																	110435097		2058	4081	6139	SO:0001583	missense	8660	0	0					g.chr13:110435097T>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3304A>G	chr13.hg19:g.110435097T>C	ENSP00000365016:p.Thr1102Ala	0						p.T1102A	NM_003749.2	NP_003740.2	0	0	0	1.903942	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)	1	3818	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	0	1	hg19	c.3304A>G	CCDS9510.1	1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607717	0.03717	.	.	ENSG00000185950	ENST00000375856	T	0.29917	1.55	3.92	2.74	0.32292	3.92	2.74	0.32292	.	0.470757	0.18108	U	0.151454	T	0.19087	0.0458	L	0.38838	1.175	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.17379	-1.0371	10	0.27785	T	0.31	-7.5024	3.2026	0.06655	0.174:0.1998:0.0:0.6262	.	1102	Q9Y4H2	IRS2_HUMAN	A	1102	ENSP00000365016:T1102A	ENSP00000365016:T1102A	T	-	1	0	0	IRS2	109233098	109233098	0.984000	0.35163	0.116000	0.21606	0.048000	0.14542	0.719000	0.25881	0.579000	0.29504	0.524000	0.50904	ACG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_003749			16	16		62	61	0		1	0		0	0	9	0		9.999619e-01	5.245608e-01	0	0	0	8	0	16	62
IRS2	8660	broad.mit.edu	37	13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3	1.000000	0.470000	1	6.900000e-01	0.950000	0.875780	0.950000	1.000000																										0				19						c.(1852-1854)Gcg>Acg		insulin receptor substrate 2							15.0	18.0	17.0					13																	110436549		2183	4292	6475	SO:0001583	missense	8660	0	0					g.chr13:110436549C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1852G>A	chr13.hg19:g.110436549C>T	ENSP00000365016:p.Ala618Thr	0						p.A618T	NM_003749.2	NP_003740.2	0	0	0	1.903942	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)	1	2366	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	0	1	hg19	c.1852G>A	CCDS9510.1	1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	0	IRS2	109234550	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-14.027150	1	0.170000	NM_003749			8	8		81	80	0		1	1		0	0	11	0		9.900219e-01	7.681688e-01	0	2	0	28	0	8	81
COL4A1	1282	broad.mit.edu	37	13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	988	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)			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)			CTGTACCTGGCTGCCCAGGCT	0.597																																						ENST00000375820.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999851	0.990000	1.000000																										0				105						c.(2962-2964)caG>caT		collagen, type IV, alpha 1							51.0	50.0	50.0					13																	110828977		2203	4300	6503	SO:0001583	missense	1282	0	0					g.chr13:110828977C>A	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.2964G>T	chr13.hg19:g.110828977C>A	ENSP00000364979:p.Gln988His	0						p.Q988H	NM_001845.4	NP_001836.2	0	0	0	1.903942	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)	35	3085	-	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)	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	1	1	hg19	c.2964G>T	CCDS9511.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356882	0.24598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.77	2.26	0.28386	5.77	2.26	0.28386	.	0.185825	0.47852	N	0.000214	D	0.88987	0.6587	L	0.41124	1.26	0.80722	D	1	B	0.32302	0.363	B	0.42882	0.401	T	0.79438	-0.1803	10	0.15066	T	0.55	.	4.4167	0.11459	0.311:0.485:0.0:0.204	.	988	P02462	CO4A1_HUMAN	H	631;988;637	ENSP00000364979:Q988H	ENSP00000364973:Q631H	Q	-	3	2	2	COL4A1	109626978	109626978	0.002000	0.14202	1.000000	0.80357	0.155000	0.21991	-1.685000	0.01930	0.803000	0.34113	-0.182000	0.12963	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				42	41		238	235	1		1	0		0	0	33	0		1	1	0	0	0	2200	0	42	238
COL4A1	1282	broad.mit.edu	37	13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	359	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)			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)			CCTTTTGGGCCTGGCTCTCCT	0.562																																						ENST00000375820.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(1075-1077)Ggc>Tgc		collagen, type IV, alpha 1							98.0	85.0	90.0					13																	110853794		2203	4300	6503	SO:0001583	missense	1282	0	0					g.chr13:110853794C>A	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.1075G>T	chr13.hg19:g.110853794C>A	ENSP00000364979:p.Gly359Cys	0					COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	p.G359C	NM_001845.4	NP_001836.2	0	0	0	1.903942	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)	19	1196	-	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)	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	1	1	hg19	c.1075G>T	CCDS9511.1	1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461247	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99369	-5.53;-5.78	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.073296	0.53938	D	0.000048	D	0.99588	0.9851	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97641	1.0148	10	0.87932	D	0	.	15.171	0.72872	0.0:1.0:0.0:0.0	.	359	P02462	CO4A1_HUMAN	C	348;359;359;359	ENSP00000364979:G359C;ENSP00000443348:G359C	ENSP00000364973:G348C	G	-	1	0	0	COL4A1	109651795	109651795	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.184000	0.65070	1.926000	0.55796	0.436000	0.28706	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				51	49		181	175	1		1	0		0	0	42	0		1	1	0	1	0	2771	0	51	181
COL4A2	1284	broad.mit.edu	37	13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A	rs561067393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	480	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTGACGCTGGGGAATG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19097	0.0		0.0	False		,,,				2504	0.002					ENST00000360467.5	0.630000	0.310000	5.500000e-01	3.800000e-01	0.450000	0.470114	0.450000	0.460000																										0				80						c.(1438-1440)Gct>Act		collagen, type IV, alpha 2							114.0	121.0	119.0					13																	111111123		2091	4226	6317	SO:0001583	missense	1284	1	121062	45				g.chr13:111111123G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1438G>A	chr13.hg19:g.111111123G>A	ENSP00000353654:p.Ala480Thr	0					COL4A2-AS2_ENST00000458403.2_RNA	p.A480T	NM_001846.2	NP_001837.2	0	0	0	1.903942	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	22	1744	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.1438G>A	CCDS41907.1	0	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585683	0.13749	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.37	1.36	0.22044	5.37	1.36	0.22044	.	0.568329	0.15913	N	0.238523	T	0.80019	0.4547	N	0.17474	0.49	0.80722	D	1	P	0.44429	0.835	B	0.35413	0.202	T	0.73228	-0.4049	10	0.10902	T	0.67	.	2.5355	0.04713	0.0888:0.271:0.2813:0.3589	.	480	P08572	CO4A2_HUMAN	T	480	ENSP00000353654:A480T	ENSP00000257309:A480T	A	+	1	0	0	COL4A2	109909124	109909124	0.000000	0.05858	0.006000	0.13384	0.094000	0.18550	-0.225000	0.09151	0.203000	0.20529	-0.182000	0.12963	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1		2	2	2	0		0	0	156		156	153	1	2.060000	-4.275549	1	0.170000	NM_001846			30	28		700	690	0		1	0		0	0	156	0		1	1	0	1	0	1943	0	30	700
COL4A2	1284	broad.mit.edu	37	13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	676	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGACAGGAGGCCATCCAGCCA	0.493																																						ENST00000360467.5	1.000000	0.480000	8.700000e-01	5.900000e-01	0.720000	0.733260	0.720000	1.000000																										0				80						c.(2026-2028)gCc>gTc		collagen, type IV, alpha 2							130.0	132.0	131.0					13																	111118398		1984	4166	6150	SO:0001583	missense	1284	0	0					g.chr13:111118398C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2027C>T	chr13.hg19:g.111118398C>T	ENSP00000353654:p.Ala676Val	0					COL4A2-AS2_ENST00000458403.2_RNA	p.A676V	NM_001846.2	NP_001837.2	0	0	0	1.903942	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	26	2333	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.2027C>T	CCDS41907.1	0	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316553	0.05422	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91237	-2.81	4.67	-2.22	0.06952	4.67	-2.22	0.06952	.	2.146400	0.02982	N	0.145762	T	0.77605	0.4155	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66834	-0.5823	10	0.19590	T	0.45	.	5.4056	0.16320	0.0:0.2764:0.1621:0.5615	.	676	P08572	CO4A2_HUMAN	V	676	ENSP00000353654:A676V	ENSP00000257309:A676V	A	+	2	0	0	COL4A2	109916399	109916399	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.665000	0.01965	-0.142000	0.11354	-0.363000	0.07495	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-6.902020	1	0.170000	NM_001846			25	25		362	357	0		1	0		0	0	81	0		9.999998e-01	1	0	0	0	2398	0	25	362
COL4A2	1284	broad.mit.edu	37	13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	833	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCAGCCAGGCCTGTATGG	0.652																																						ENST00000360467.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				80						c.(2497-2499)Ggc>Tgc		collagen, type IV, alpha 2							22.0	25.0	24.0					13																	111130421		1867	4088	5955	SO:0001583	missense	1284	0	0					g.chr13:111130421G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2497G>T	chr13.hg19:g.111130421G>T	ENSP00000353654:p.Gly833Cys	0						p.G833C	NM_001846.2	NP_001837.2	0	0	0	1.903942	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	30	2803	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.2497G>T	CCDS41907.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740068	0.30865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.000000	0.48286	D	0.000190	D	0.99813	0.9918	H	0.99444	4.57	0.54753	D	0.999987	D	0.56746	0.977	D	0.68353	0.957	D	0.96546	0.9404	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.0:1.0:0.0	.	833	P08572	CO4A2_HUMAN	C	833	ENSP00000353654:G833C	ENSP00000257309:G833C	G	+	1	0	0	COL4A2	109928422	109928422	1.000000	0.71417	0.187000	0.23214	0.413000	0.31143	6.597000	0.74118	2.072000	0.62099	0.499000	0.49734	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_001846			41	41		149	146	1		1	0		0	0	45	0		1	1	0	0	0	2138	0	41	149
COL4A2	1284	broad.mit.edu	37	13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1653	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTTCCGCGCCACACCATTCAT	0.627																																						ENST00000360467.5	1.000000	0.910000	1	9.900000e-01	0.990000	0.994429	0.990000	1.000000																										0				80						c.(4957-4959)Aca>Cca		collagen, type IV, alpha 2							61.0	69.0	66.0					13																	111164356		2125	4245	6370	SO:0001583	missense	1284	0	0					g.chr13:111164356A>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4957A>C	chr13.hg19:g.111164356A>C	ENSP00000353654:p.Thr1653Pro	0						p.T1653P	NM_001846.2	NP_001837.2	0	0	0	1.903942	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	48	5263	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.4957A>C	CCDS41907.1	1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815592	0.50527	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94613	-3.47	4.91	4.91	0.64330	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.53938	D	0.000060	D	0.97349	0.9133	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	14.5597	0.68126	1.0:0.0:0.0:0.0	.	1653	P08572	CO4A2_HUMAN	P	1653	ENSP00000353654:T1653P	ENSP00000257309:T1653P	T	+	1	0	0	COL4A2	109962357	109962357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.969000	0.76092	1.833000	0.53350	0.459000	0.35465	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	0	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_001846			49	48		401	394	1		1	1		0	0	128	0		1	1	0	8	0	2920	0	49	401
CARS2	79587	broad.mit.edu	37	13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	231					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617																																						ENST00000257347.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(691-693)Ctg>Atg		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						53.0	56.0	55.0					13																	111329415		2203	4300	6503	SO:0001583	missense	79587	0	0					g.chr13:111329415G>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.691C>A	chr13.hg19:g.111329415G>T	ENSP00000257347:p.Leu231Met	0					CARS2_ENST00000535398.1_5'UTR	p.L231M	NM_024537.2	NP_078813.1	0	0	0	1.903942	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)	7	754	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	1	1	hg19	c.691C>A	CCDS9514.1	1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294309	0.40594	.	.	ENSG00000134905	ENST00000257347	T	0.69435	-0.4	5.42	3.69	0.42338	5.42	3.69	0.42338	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000004	D	0.85522	0.5716	H	0.95884	3.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	D	0.86316	0.1689	10	0.72032	D	0.01	-25.8936	9.4363	0.38641	0.2184:0.0:0.7816:0.0	.	231	Q9HA77	SYCM_HUMAN	M	231	ENSP00000257347:L231M	ENSP00000257347:L231M	L	-	1	2	2	CARS2	110127416	110127416	0.998000	0.40836	0.914000	0.36105	0.114000	0.19823	2.351000	0.44071	0.673000	0.31224	-0.299000	0.09455	CTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.493409	1	0.170000	NM_024537			66	66		247	245	1		1	1		0	0	85	0		1	9.999998e-01	0	11	0	79	0	66	247
CARS2	79587	broad.mit.edu	37	13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	178					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403																																						ENST00000257347.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(532-534)Gga>Aga		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						185.0	197.0	193.0					13																	111340107		2203	4300	6503	SO:0001583	missense	79587	0	0					g.chr13:111340107C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.532G>A	chr13.hg19:g.111340107C>T	ENSP00000257347:p.Gly178Arg	0					CARS2_ENST00000535398.1_5'UTR	p.G178R	NM_024537.2	NP_078813.1	0	0	0	1.903942	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)	5	595	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	1	1	hg19	c.532G>A	CCDS9514.1	1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157371	0.09236	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.26957	1.7	4.71	1.82	0.25136	4.71	1.82	0.25136	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.607895	0.16732	N	0.201803	T	0.07413	0.0187	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36212	-0.9757	10	0.13108	T	0.6	-2.8229	4.1568	0.10265	0.0:0.3798:0.3475:0.2726	.	178	Q9HA77	SYCM_HUMAN	R	178;169	ENSP00000257347:G178R	ENSP00000257347:G178R	G	-	1	0	0	CARS2	110138108	110138108	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.014000	0.12656	0.445000	0.26639	0.557000	0.71058	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	1	0	1		2	2	2	0		0	0	270		270	269	1	2.060000	-20.000000	1	0.170000	NM_024537			258	249		1087	1012	1		1	1		0	0	270	0		1	9.999902e-01	0	8	0	61	0	258	1087
ING1	3621	broad.mit.edu	37	13	111368056	111368056	+	Missense_Mutation	SNP	C	C	A	rs370758745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	ENST00000375774.3	+	1	728	c.266C>A	c.(265-267)cCt>cAt	p.P89H	ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697																																						ENST00000375774.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997204	0.990000	1.000000																										0				12						c.(265-267)cCt>cAt		inhibitor of growth family, member 1							48.0	44.0	45.0					13																	111368056		2193	4285	6478	SO:0001583	missense	3621	0	0					g.chr13:111368056C>A		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.266C>A	chr13.hg19:g.111368056C>A	ENSP00000364929:p.Pro89His	0					ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	p.P89H	NM_005537.4	NP_005528.3	0	0	0	1.903942	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)	1	728	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	1	1	hg19	c.266C>A	CCDS9517.1	1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363542	0.41902	.	.	ENSG00000153487	ENST00000375774	T	0.32272	1.46	4.02	3.15	0.36227	4.02	3.15	0.36227	.	.	.	.	.	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.07385	-1.0775	9	0.87932	D	0	-7.4134	9.6479	0.39879	0.0:0.7866:0.2134:0.0	.	89	Q9UK53	ING1_HUMAN	H	89	ENSP00000364929:P89H	ENSP00000364929:P89H	P	+	2	0	0	ING1	110166057	110166057	0.005000	0.15991	0.744000	0.31058	0.493000	0.33554	0.680000	0.25306	1.003000	0.39130	0.561000	0.74099	CCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	1	0	1		2	2	2	0		0	0	14		14	11	1	2.060000	-20.000000	1	0.170000	NM_005537			15	15		59	58	1		1	0		0	0	14	0		9.999229e-01	4.647984e-02	0	0	0	2	0	15	59
ARHGEF7	8874	broad.mit.edu	37	13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000375741.2	+	8	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	297	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTTCAACGTACCTACGGCC	0.323																																						ENST00000375741.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				41						c.(889-891)Tac>Cac		Rho guanine nucleotide exchange factor (GEF) 7							51.0	51.0	51.0					13																	111896285		2203	4298	6501	SO:0001583	missense	8874	1	121406	26				g.chr13:111896285T>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.889T>C	chr13.hg19:g.111896285T>C	ENSP00000364893:p.Tyr297His	0					ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H	p.Y297H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	0	0	0	1.903942	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)	8	1139	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	1	1	hg19	c.889T>C	CCDS45068.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076914	0.76415	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.82	4.82	0.62117	4.82	4.82	0.62117	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	14.0484	0.64719	0.0:0.0:0.0:1.0	.	41;194;41;247;297;276	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	276;297;247;204;274;119;119;119;119;194;119;41	ENSP00000325994:Y276H;ENSP00000364893:Y297H;ENSP00000364891:Y247H;ENSP00000359657:Y204H;ENSP00000418067:Y119H;ENSP00000218789:Y119H;ENSP00000364888:Y119H;ENSP00000397068:Y119H;ENSP00000364889:Y194H;ENSP00000364875:Y119H;ENSP00000417596:Y41H	ENSP00000218789:Y119H	Y	+	1	0	0	ARHGEF7	110694286	110694286	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.585000	0.74062	1.787000	0.52448	0.383000	0.25322	TAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_001113511			36	35		149	149	1		1	1		0	0	40	0		1	9.999849e-01	0	5	0	70	0	36	149
ARHGEF7	8874	broad.mit.edu	37	13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTTGCTTCCAGAAGAAGA	0.353																																						ENST00000218789.5	1.000000	0.950000	1	9.900000e-01	0.990000	0.997351	0.990000	1.000000																										0				41						c.(1876-1878)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 7							79.0	96.0	91.0					13																	111953130		2203	4300	6503	SO:0001583	missense	8874	0	0					g.chr13:111953130C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1876C>T	chr13.hg19:g.111953130C>T	ENSP00000218789:p.Pro626Ser	0					ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S	p.P626S			0	0	0	1.903942	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)	19	2373	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	1	1	hg19	c.1876C>T		1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351760	0.82132	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.57595	0.58;0.39;0.59;0.59;0.62	5.25	5.25	0.73442	5.25	5.25	0.73442	.	.	.	.	.	T	0.68952	0.3057	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66152	-0.5995	9	0.30854	T	0.27	.	18.8414	0.92186	0.0:1.0:0.0:0.0	.	642	B7Z6G2	.	S	652;626;567;567;642	ENSP00000359657:P652S;ENSP00000218789:P626S;ENSP00000364888:P567S;ENSP00000397068:P567S;ENSP00000364889:P642S	ENSP00000218789:P626S	P	+	1	0	0	ARHGEF7	110751131	110751131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.830000	0.75319	2.420000	0.82092	0.561000	0.74099	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	0	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-17.246180	1	0.170000	NM_001113511			48	45		368	363	1		1	1		0	0	110	0		1	9.992987e-01	0	16	0	69	0	48	368
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000462580.1_5'Flank|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					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.A610T(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)					TCAAACTGTGCGTTGGTGGCT	0.537																																						ENST00000261965.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A610T(1)	large_intestine(1)	25						c.(1828-1830)Gca>Aca		tubulin, gamma complex associated protein 3							120.0	120.0	120.0					13																	113174253		2203	4300	6503	SO:0001583	missense	10426	0	0					g.chr13:113174253C>T	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.1828G>A	chr13.hg19:g.113174253C>T	ENSP00000261965:p.Ala610Thr	0					TUBGCP3_ENST00000462580.1_5'Flank|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	p.A610T	NM_006322.4	NP_006313.1	0	0	0	1.903942	Q96CW5	GCP3_HUMAN		15	2014	-	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)		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	1	1	hg19	c.1828G>A	CCDS9525.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	0	TUBGCP3	112222254	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_006322			86	85		432	424	1		1	1		0	0	82	0		1	9.992190e-01	0	6	0	49	0	86	432
ATP11AUN	400165	broad.mit.edu	37	13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	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(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557																																						ENST00000356049.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999811	0.990000	1.000000																										0				5						c.(13-15)Gag>Tag									59.0	54.0	56.0					13																	113333706		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr13:113333706G>T																												ENST00000356049.1:c.13G>T	chr13.hg19:g.113333706G>T	ENSP00000348337:p.Glu5*	0						p.E5*	NM_207440.1	NP_997323.1	0	0	0	1.903942	Q6ZP68	ATPUN_HUMAN	all cancers(43;0.201)	2	771	+	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)			Nonsense_Mutation	SNP	ENST00000356049.1	0	1	hg19	c.13G>T	CCDS9526.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.663447	0.97743	.	.	ENSG00000197595	ENST00000356049	.	.	.	1.82	0.911	0.19343	1.82	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0085	0.19559	0.0:0.3287:0.6713:0.0	.	.	.	.	X	5	.	ENSP00000348337:E5X	E	+	1	0	0	C13orf35	112381707	112381707	0.002000	0.14202	0.042000	0.18584	0.018000	0.09664	0.232000	0.17891	0.296000	0.22592	0.462000	0.41574	GAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.896338	1	0.170000				32	32		154	153	1		1			0	0	47	0		1	0	0	0	0	0	0	32	154
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000375630.2_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					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)			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)				ACAACAGGATCGTCTCGTCCA	0.552																																						ENST00000487903.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999040	0.990000	1.000000																										0				51						c.(148-150)atC>atT		ATPase, class VI, type 11A							160.0	148.0	152.0					13																	113439559		2203	4300	6503	SO:0001819	synonymous_variant	23250	4	121328	35				g.chr13:113439559C>T	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.150C>T	chr13.hg19:g.113439559C>T		0					ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I	p.I50I			0	0	0	1.903942	P98196	AT11A_HUMAN		2	238	+	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)	Q5VXT2	Silent	SNP	ENST00000487903.1	1	1	hg19	c.150C>T	CCDS32011.1	1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404897	0.11754	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.63	0.03359	4.84	-4.63	0.03359	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.8484	0.24000	0.4604:0.3299:0.0:0.2097	.	.	.	.	L	25	.	.	S	+	2	0	0	ATP11A	112487560	112487560	0.684000	0.27642	0.737000	0.30932	0.497000	0.33675	-0.285000	0.08410	-0.864000	0.04078	-0.857000	0.03018	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-19.670180	1	0.170000	NM_015205			51	50		367	363	1		1	1		0	0	95	0		1	9.969181e-01	0	16	0	49	0	51	367
ATP11A	23250	broad.mit.edu	37	13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	286					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)			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)				ATCTCAGAAGCGATCTGCCGT	0.458																																						ENST00000487903.1	0.980000	0.410000	8.200000e-01	5.200000e-01	0.660000	0.678345	0.660000	1.000000																										0				51						c.(856-858)Cga>Tga		ATPase, class VI, type 11A							98.0	96.0	97.0					13																	113478723		2203	4300	6503	SO:0001587	stop_gained	23250	0	0					g.chr13:113478723C>T	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.856C>T	chr13.hg19:g.113478723C>T	ENSP00000420387:p.Arg286*	0					ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*	p.R286*			0	0	0	1.903942	P98196	AT11A_HUMAN		10	944	+	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)	Q5VXT2	Nonsense_Mutation	SNP	ENST00000487903.1	0	1	hg19	c.856C>T	CCDS32011.1	0	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427410	0.83667	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.77	1.86	0.25419	4.77	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6097	0.28122	0.465:0.4582:0.0:0.0768	.	.	.	.	X	286	.	ENSP00000283558:R286X	R	+	1	2	2	ATP11A	112526724	112526724	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	1.787000	0.38704	0.102000	0.17638	0.455000	0.32223	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.318794	1	0.170000	NM_015205			18	18		286	284	0		1	0		0	0	65	0		9.999831e-01	9.197021e-01	0	0	0	71	0	18	286
ATP11A	23250	broad.mit.edu	37	13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	600					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)			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)				CAGAGTGGAGCGTAACGCAGT	0.532																																						ENST00000487903.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998148	0.990000	1.000000																										0				51						c.(1798-1800)Cgt>Tgt		ATPase, class VI, type 11A							56.0	48.0	51.0					13																	113496682		2201	4297	6498	SO:0001583	missense	23250	0	0					g.chr13:113496682C>T	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.1798C>T	chr13.hg19:g.113496682C>T	ENSP00000420387:p.Arg600Cys	0					ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C	p.R600C			0	0	0	1.903942	P98196	AT11A_HUMAN		17	1886	+	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)	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	1	1	hg19	c.1798C>T	CCDS32011.1	1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588287	0.66105	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.9	4.9	0.64082	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.241555	0.46758	D	0.000275	D	0.86435	0.5932	L	0.43598	1.365	0.80722	D	1	D;P;P	0.69078	0.997;0.951;0.918	P;P;P	0.58077	0.832;0.773;0.67	D	0.88191	0.2877	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	600;600;600	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	C	600;600;600;600;41	ENSP00000420387:R600C;ENSP00000364781:R600C;ENSP00000364796:R600C;ENSP00000283558:R600C	ENSP00000283558:R600C	R	+	1	0	0	ATP11A	112544683	112544683	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	7.093000	0.76937	2.421000	0.82119	0.563000	0.77884	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_015205			14	13		41	41	1		1	1		0	0	11	0		9.998683e-01	9.999987e-01	0	24	0	69	0	14	41
MCF2L	23263	broad.mit.edu	37	13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000375608.3	+	22	2454	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	MCF2L_ENST00000397030.1_Missense_Mutation_p.S802I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632																																						ENST00000375608.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(2395-2397)aGc>aTc		MCF.2 cell line derived transforming sequence-like							82.0	66.0	71.0					13																	113740496		2203	4300	6503	SO:0001583	missense	23263	0	0					g.chr13:113740496G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2396G>T	chr13.hg19:g.113740496G>T	ENSP00000364758:p.Ser799Ile	0					MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000397030.1_Missense_Mutation_p.S802I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I	p.S799I			0	0	0	1.903942	O15068	MCF2L_HUMAN		22	2454	+	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;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	1	1	hg19	c.2396G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986538|1.986538	0.35036|0.35036	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.67|4.67	3.8|3.8	0.43715|0.43715	4.67|4.67	3.8|3.8	0.43715|0.43715	.|Dbl homology (DH) domain (5);	.|0.220796	.|0.45361	.|D	.|0.000373	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.31294|0.31294	0.92|0.92	0.37373|0.37373	D|D	0.911736|0.911736	.|D;P;D;D;P;D	.|0.63046	.|0.972;0.933;0.992;0.985;0.817;0.978	.|B;B;P;P;B;P	.|0.54629	.|0.426;0.426;0.644;0.757;0.426;0.679	T|T	0.61855|0.61855	-0.6977|-0.6977	5|10	.|0.45353	.|T	.|0.12	.|.	7.5177|7.5177	0.27610|0.27610	0.1088:0.4278:0.4634:0.0|0.1088:0.4278:0.4634:0.0	.|.	.|767;769;826;731;767;799	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	D|I	429|799;799;826;802;769;773;773;775;767;767;610	.|ENSP00000364758:S799I;ENSP00000401422:S799I;ENSP00000364754:S826I;ENSP00000380225:S802I;ENSP00000440374:S769I;ENSP00000397285:S773I;ENSP00000364751:S773I;ENSP00000407722:S775I;ENSP00000405639:S767I;ENSP00000364747:S767I	.|ENSP00000364747:S767I	E|S	+|+	3|2	2|0	2|0	MCF2L|MCF2L	112788497|112788497	112788497|112788497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	4.451000|4.451000	0.60047|0.60047	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GAG|AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				49	49		185	181	1		1	1		0	0	53	0		1	9.994616e-01	0	7	0	39	0	49	185
F10	2159	broad.mit.edu	37	13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	346	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)			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)	CTCCCCGAGCGTGACTGGGCC	0.642																																						ENST00000375559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1036-1038)cGt>cAt		coagulation factor X	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)						86.0	71.0	76.0					13																	113803401		2203	4300	6503	SO:0001583	missense	2159	2	121402	31				g.chr13:113803401G>A		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.1037G>A	chr13.hg19:g.113803401G>A	ENSP00000364709:p.Arg346His	0					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.R346H	NM_000504.3	NP_000495.1	0	0	0	1.903942	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)	8	1075	+	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)	Q14340	Missense_Mutation	SNP	ENST00000375559.3	1	1	hg19	c.1037G>A	CCDS9530.1	1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	0	F10	112851402	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				117	117		395	388	1		1	0		0	0	86	0		1	9.940987e-01	0	0	0	29	0	117	395
F10	2159	broad.mit.edu	37	13	113803648	113803648	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	ENST00000375559.3	+	8	1322	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	428	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)			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)	CCCGCTTCAAGGACACCTACT	0.612																																						ENST00000375559.3	0.770000	0.340000	6.600000e-01	4.300000e-01	0.530000	0.550764	0.530000	0.530000																										0				18						c.(1282-1284)aaG>aaT		coagulation factor X	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)						73.0	75.0	74.0					13																	113803648		2203	4300	6503	SO:0001583	missense	2159	0	0					g.chr13:113803648G>T		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.1284G>T	chr13.hg19:g.113803648G>T	ENSP00000364709:p.Lys428Asn	0					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.K428N	NM_000504.3	NP_000495.1	0	0	0	1.903942	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)	8	1322	+	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)	Q14340	Missense_Mutation	SNP	ENST00000375559.3	1	1	hg19	c.1284G>T	CCDS9530.1	0	.	.	.	.	.	.	.	.	.	.	G	6.471	0.454987	0.12283	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	5.38	2.51	0.30379	5.38	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.513361	0.22091	N	0.064756	T	0.79311	0.4424	N	0.02103	-0.685	0.29479	N	0.856484	B	0.31274	0.317	B	0.40285	0.325	T	0.72836	-0.4172	10	0.72032	D	0.01	.	1.5405	0.02554	0.2537:0.1415:0.4593:0.1455	.	428	P00742	FA10_HUMAN	N	428	ENSP00000364709:K428N	ENSP00000364709:K428N	K	+	3	2	2	F10	112851649	112851649	0.934000	0.31675	0.083000	0.20561	0.005000	0.04900	0.753000	0.26376	0.177000	0.19895	-0.175000	0.13238	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.324524	1	0.170000				22	22		437	431	0		1	0		0	0	74	0		9.999986e-01	5.478220e-01	0	1	0	36	0	22	437
F10	2159	broad.mit.edu	37	13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375559.3	+	8	1453	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	472					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)			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)	AGGGGCTTGCCCAAGGCCAAG	0.582																																						ENST00000375559.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				18						c.(1414-1416)cCc>cAc		coagulation factor X	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)						111.0	95.0	101.0					13																	113803779		2203	4300	6503	SO:0001583	missense	2159	0	0					g.chr13:113803779C>A		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.1415C>A	chr13.hg19:g.113803779C>A	ENSP00000364709:p.Pro472His	0					F10_ENST00000375551.3_3'UTR	p.P472H	NM_000504.3	NP_000495.1	0	0	0	1.903942	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)	8	1453	+	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)	Q14340	Missense_Mutation	SNP	ENST00000375559.3	1	1	hg19	c.1415C>A	CCDS9530.1	1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189142	0.21954	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	2.37	2.37	0.29283	2.37	2.37	0.29283	.	2.443350	0.01620	N	0.022984	D	0.89206	0.6649	L	0.46157	1.445	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.73572	-0.3940	9	.	.	.	.	8.3325	0.32195	0.0:1.0:0.0:0.0	.	472	P00742	FA10_HUMAN	H	472	ENSP00000364709:P472H	.	P	+	2	0	0	F10	112851780	112851780	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	0.876000	0.28092	1.626000	0.50381	0.561000	0.74099	CCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-3.318946	1	0.170000				71	70		432	424	1		1	0		0	0	82	0		1	5.679887e-01	0	0	0	13	0	71	432
PROZ	8858	broad.mit.edu	37	13	113813025	113813025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000375547.2	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000342783.4_Silent_p.L17L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	17					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602																																						ENST00000375547.2	1.000000	0.770000	1	9.900000e-01	0.990000	0.981771	0.990000	1.000000																										0				16						c.(49-51)ctC>ctT		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						123.0	77.0	93.0					13																	113813025		2203	4300	6503	SO:0001819	synonymous_variant	8858	0	0					g.chr13:113813025C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.51C>T	chr13.hg19:g.113813025C>T		0					PROZ_ENST00000342783.4_Silent_p.L17L	p.L17L	NM_003891.2	NP_003882.1	0	0	0	1.903942	P22891	PROZ_HUMAN	all cancers(43;0.104)	1	58	+	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;0.216)	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	0	1	hg19	c.51C>T	CCDS9531.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.669200	1	0.170000	NM_003891			10	9		52	52	1		1			0	0	13	0		9.974736e-01	0	0	0	0	0	0	10	52
LAMP1	3916	broad.mit.edu	37	13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	326	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)			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)			CGGCTCCCTGCGAGCGCTGCA	0.602																																						ENST00000332556.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				16						c.(976-978)Cga>Tga		lysosomal-associated membrane protein 1							71.0	80.0	77.0					13																	113975904		2009	4176	6185	SO:0001587	stop_gained	3916	0	0					g.chr13:113975904C>T	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.976C>T	chr13.hg19:g.113975904C>T	ENSP00000333298:p.Arg326*	0					LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	p.R326*	NM_005561.3	NP_005552.3	0	0	0	1.903942	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)	8	1170	+	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)	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Nonsense_Mutation	SNP	ENST00000332556.4	0	1	hg19	c.976C>T	CCDS41909.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864919	0.91511	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	.	.	.	5.27	1.3	0.21679	5.27	1.3	0.21679	.	0.404542	0.29040	N	0.013330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-29.2117	12.9598	0.58451	0.61:0.39:0.0:0.0	.	.	.	.	X	326;273	.	ENSP00000333298:R326X	R	+	1	2	2	LAMP1	113023905	113023905	0.997000	0.39634	0.629000	0.29254	0.001000	0.01503	1.837000	0.39201	0.004000	0.14682	-1.748000	0.00681	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000				83	82		550	538	1		1	1		0	0	106	0		1	1	0	11	0	1319	0	83	550
GRTP1	79774	broad.mit.edu	37	13	113980393	113980393	+	Silent	SNP	C	C	T	rs201875292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375431.4	-	6	650	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000375430.4_Silent_p.P192P|GRTP1_ENST00000326039.3_Silent_p.P114P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	192	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		11329	0.001		0.0	False		,,,				2504	0.0					ENST00000375431.4	1.000000	0.780000	1	9.100000e-01	0.990000	0.969985	0.990000	1.000000																										0				14						c.(574-576)ccG>ccA		growth hormone regulated TBC protein 1		C		0,4406		0,0,2203	35.0	45.0	42.0		576	-9.4	0.0	13		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRTP1	NM_024719.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		192/337	113980393	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79774	15	121382	43				g.chr13:113980393C>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.576G>A	chr13.hg19:g.113980393C>T		0					GRTP1_ENST00000326039.3_Silent_p.P114P|GRTP1_ENST00000375430.4_Silent_p.P192P	p.P192P	NM_024719.2	NP_078995.2	0	0	0	1.903942	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)	6	650	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	ENST00000375431.4	1	1	hg19	c.576G>A	CCDS9534.2	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.142702	1	0.170000	NM_024719			41	40		386	383	0		1	1		0	0	61	0		1	9.615584e-01	0	12	0	40	0	41	386
TMCO3	55002	broad.mit.edu	37	13	114156189	114156189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.S313S	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	313						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343																																						ENST00000434316.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(937-939)agT>agC		transmembrane and coiled-coil domains 3							115.0	112.0	113.0					13																	114156189		2203	4300	6503	SO:0001819	synonymous_variant	55002	0	0					g.chr13:114156189T>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.939T>C	chr13.hg19:g.114156189T>C		0					TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	p.S313S	NM_017905.4	NP_060375.4	0	0	0	1.903942	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)	5	1298	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	1	1	hg19	c.939T>C	CCDS9537.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_017905			87	82		312	307	1		1	1		0	0	56	0		1	1	0	67	0	191	0	87	312
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	C	T	rs374253994		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)																												ENST00000375370.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				26						c.(502-504)cgC>cgT		transcription factor Dp-1		C		0,4406		0,0,2203	113.0	107.0	109.0		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7027	0	0					g.chr13:114288234C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	chr13.hg19:g.114288234C>T		0	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	p.R168R	NM_007111.4	NP_009042.1	0	0	0	1.903942	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)	7	716	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	1	1	hg19	c.504C>T	CCDS9538.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_007111			70	70		427	416	1		1	1		0	0	113	0		1	1	0	40	0	150	0	70	427
GRK1	6011	broad.mit.edu	37	13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	93	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	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;0.234)			AAGACATCGAGGACTATGACA	0.587																																						ENST00000335678.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999809	0.990000	1.000000																										0				2						c.(277-279)gaG>gaT		G protein-coupled receptor kinase 1							51.0	56.0	55.0					13																	114321980		2039	4188	6227	SO:0001583	missense	6011	0	0					g.chr13:114321980G>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.279G>T	chr13.hg19:g.114321980G>T	ENSP00000334876:p.Glu93Asp	0						p.E93D	NM_002929.2	NP_002920.1	0	0	0	1.903942	Q15835	RK_HUMAN	all cancers(43;0.234)	1	511	+	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)	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	1	1	hg19	c.279G>T		1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578195	0.45902	.	.	ENSG00000185974	ENST00000335678	T	0.02369	4.32	5.25	4.39	0.52855	5.25	4.39	0.52855	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.44807	D	0.997813	D	0.76494	0.999	D	0.85130	0.997	T	0.32295	-0.9912	9	0.21014	T	0.42	-56.5093	8.6131	0.33815	0.1752:0.0:0.8248:0.0	.	93	Q15835	RK_HUMAN	D	93	ENSP00000334876:E93D	ENSP00000334876:E93D	E	+	3	2	2	GRK1	113369981	113369981	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.632000	0.37102	2.438000	0.82558	0.561000	0.74099	GAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-2.881484	1	0.170000	NM_002929			45	45		271	269	1		1			0	0	86	0		1	0	0	0	0	0	0	45	271
GAS6	2621	broad.mit.edu	37	13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000327773.6	-	13	1674	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	553	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607																																						ENST00000327773.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999903	0.990000	1.000000																										0				5						c.(1528-1530)Gtg>Atg		growth arrest-specific 6							102.0	87.0	92.0					13																	114526473		2203	4300	6503	SO:0001583	missense	2621	0	0					g.chr13:114526473C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1528G>A	chr13.hg19:g.114526473C>T	ENSP00000331831:p.Val510Met	0					GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M	p.V510M	NM_000820.2	NP_000811.1	0	0	0	1.903942	Q14393	GAS6_HUMAN		13	1674	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	1	1	hg19	c.1528G>A	CCDS45072.1	1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750267	0.15778	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.87	-3.2	0.05156	4.87	-3.2	0.05156	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58538	0.2129	L	0.33485	1.01	0.09310	N	1	P;B;B	0.35575	0.51;0.118;0.143	B;B;B	0.17722	0.019;0.012;0.006	T	0.42832	-0.9428	9	0.54805	T	0.06	-5.1945	8.0893	0.30790	0.0:0.1474:0.1382:0.7144	.	553;237;510	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	553;456;237;211;510	ENSP00000349962:V553M;ENSP00000348003:V456M;ENSP00000416498:V237M;ENSP00000400117:V211M;ENSP00000331831:V510M	ENSP00000331831:V510M	V	-	1	0	0	GAS6	113587470	113587470	0.050000	0.20438	0.001000	0.08648	0.008000	0.06430	0.133000	0.15912	-0.685000	0.05177	-0.140000	0.14226	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_000820			58	57		371	365	1		1	1		0	0	83	0		1	1	0	95	0	888	0	58	371
GAS6	2621	broad.mit.edu	37	13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A	rs202234400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000327773.6	-	12	1528	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	504	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557																																						ENST00000327773.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				5						c.(1381-1383)aCg>aTg		growth arrest-specific 6		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	183.0	140.0	155.0		1382,563,485	3.5	0.0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/679,188/406,162/380	114530064	1,13005	2203	4300	6503	SO:0001583	missense	2621	3	121386	37				g.chr13:114530064G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1382C>T	chr13.hg19:g.114530064G>A	ENSP00000331831:p.Thr461Met	0					GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M	p.T461M	NM_000820.2	NP_000811.1	0	0	0	1.903942	Q14393	GAS6_HUMAN		12	1528	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	1	1	hg19	c.1382C>T	CCDS45072.1	1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516076	0.27123	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.91011	-2.77;-2.36;-2.09;-2.1;-2.77	4.55	3.46	0.39613	4.55	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.72479	2.2	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.60949	0.881;0.619;0.653	D	0.92439	0.5960	9	0.48119	T	0.1	-19.8378	11.4483	0.50136	0.1599:0.0:0.8401:0.0	.	504;188;461	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	504;407;188;162;461	ENSP00000349962:T504M;ENSP00000348003:T407M;ENSP00000416498:T188M;ENSP00000400117:T162M;ENSP00000331831:T461M	ENSP00000331831:T461M	T	-	2	0	0	GAS6	113583879	113583879	1.000000	0.71417	0.041000	0.18516	0.008000	0.06430	5.680000	0.68168	2.067000	0.61834	0.462000	0.41574	ACG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-3.152074	1	0.170000	NM_000820			62	60		328	321	1		1	1		0	0	95	0		1	1	0	139	0	1116	0	62	328
GAS6	2621	broad.mit.edu	37	13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000327773.6	-	11	1357	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	447	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557																																						ENST00000327773.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1210-1212)gCg>gTg		growth arrest-specific 6			VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	115.0	119.0		1211,392,314	4.1	0.5	13	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	64,64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	404/679,131/406,105/380	114531617	2,13004	2203	4300	6503	SO:0001583	missense	2621	3	121400	37				g.chr13:114531617G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1211C>T	chr13.hg19:g.114531617G>A	ENSP00000331831:p.Ala404Val	0					GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V	p.A404V	NM_000820.2	NP_000811.1	0	0	0	1.903942	Q14393	GAS6_HUMAN		11	1357	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	1	1	hg19	c.1211C>T	CCDS45072.1	1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.862531	0.32884	2.27E-4	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.1	0.47936	4.95	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.72630	0.3484	M	0.76838	2.35	0.58432	D	0.999999	P;P;D	0.63046	0.592;0.821;0.992	B;B;B	0.40565	0.041;0.187;0.333	T	0.74542	-0.3631	9	0.39692	T	0.17	-30.638	13.2677	0.60144	0.0772:0.0:0.9228:0.0	.	447;131;404	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	447;350;131;105;404	ENSP00000349962:A447V;ENSP00000348003:A350V;ENSP00000416498:A131V;ENSP00000400117:A105V;ENSP00000331831:A404V	ENSP00000331831:A404V	A	-	2	0	0	GAS6	113582326	113582326	1.000000	0.71417	0.483000	0.27378	0.588000	0.36517	6.843000	0.75384	1.076000	0.40961	0.550000	0.68814	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.495061	1	0.170000	NM_000820			75	71		319	314	1		1	1		0	0	90	0		1	1	0	98	0	738	0	75	319
GAS6	2621	broad.mit.edu	37	13	114541118	114541118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000327773.6	-	6	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.C171C|GAS6_ENST00000450766.1_5'Flank|GAS6_ENST00000355761.4_Silent_p.C117C	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622																																						ENST00000327773.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999817	0.990000	1.000000																										0				5						c.(511-513)tgC>tgT		growth arrest-specific 6							111.0	101.0	105.0					13																	114541118		2203	4299	6502	SO:0001819	synonymous_variant	2621	0	0					g.chr13:114541118G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.513C>T	chr13.hg19:g.114541118G>A		0					GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000450766.1_5'Flank|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.C171C	p.C171C	NM_000820.2	NP_000811.1	0	0	0	1.903942	Q14393	GAS6_HUMAN		6	659	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	1	1	hg19	c.513C>T	CCDS45072.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-19.999990	1	0.170000	NM_000820			63	62		432	421	1		1	1		0	0	108	0		1	1	0	90	0	721	0	63	432
RASA3	22821	broad.mit.edu	37	13	114795310	114795310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000334062.7	-	5	547	c.426C>T	c.(424-426)gtC>gtT	p.V142V	RASA3_ENST00000542651.1_Missense_Mutation_p.R111C|RASA3_ENST00000389544.4_Silent_p.V110V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	142	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)			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)			TGTGGCAGACGACCCCAGTGT	0.622																																						ENST00000334062.7	1.000000	0.470000	1	7.400000e-01	0.990000	0.907939	0.990000	1.000000																										0				47						c.(424-426)gtC>gtT		RAS p21 protein activator 3							120.0	71.0	88.0					13																	114795310		2200	4297	6497	SO:0001819	synonymous_variant	22821	0	0					g.chr13:114795310G>A		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.426C>T	chr13.hg19:g.114795310G>A		0					RASA3_ENST00000542651.1_Missense_Mutation_p.R111C|RASA3_ENST00000389544.4_Silent_p.V110V	p.V142V	NM_007368.2	NP_031394.2	0	0	0	1.903942	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)	5	547	-	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)	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	0	1	hg19	c.426C>T	CCDS32016.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275872	0.40294	.	.	ENSG00000185989	ENST00000542651	T	0.18810	2.19	4.5	-1.6	0.08426	4.5	-1.6	0.08426	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.27189	N	0.960467	.	.	.	.	.	.	T	0.34153	-0.9840	5	.	.	.	.	5.8744	0.18820	0.4508:0.0:0.427:0.1222	.	.	.	.	C	111	ENSP00000439008:R111C	.	R	-	1	0	0	RASA3	113813412	113813412	0.459000	0.25768	0.061000	0.19648	0.857000	0.48899	0.095000	0.15127	-0.728000	0.04882	-0.221000	0.12465	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-11.258590	1	0.170000	NM_007368			5	5		36	35	1		1	1		0	0	13	0		9.377104e-01	9.824881e-01	0	9	0	52	0	5	36
CDC16	8881	broad.mit.edu	37	13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000356221.3	+	3	223	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y			Q13042	CDC16_HUMAN	cell division cycle 16	39					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)				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)			AGAACCCCAGGACATCTATTG	0.413																																						ENST00000356221.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(115-117)Gac>Tac		cell division cycle 16							129.0	129.0	129.0					13																	115002285		2203	4300	6503	SO:0001583	missense	8881	0	0					g.chr13:115002285G>T	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.115G>T	chr13.hg19:g.115002285G>T	ENSP00000348554:p.Asp39Tyr	0					CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375310.1_5'UTR	p.D39Y			0	0	0	1.903942	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	3	223	+	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)	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	1	1	hg19	c.115G>T	CCDS9542.2	1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126752	0.56721	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.35973	1.28;1.28;1.28	5.43	5.43	0.79202	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.992;0.989	T	0.70019	-0.4987	9	.	.	.	-6.0586	18.4048	0.90532	0.0:0.0:1.0:0.0	.	39;38;38;39	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	Y	39;39;38	ENSP00000353549:D39Y;ENSP00000348554:D39Y;ENSP00000252457:D38Y	.	D	+	1	0	0	CDC16	114020387	114020387	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.425000	0.90270	2.824000	0.97209	0.655000	0.94253	GAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-20.000000	1	0.170000	NM_003903			101	97		486	465	1		1	1		0	0	128	0		1	1	0	39	0	95	0	101	486
TUBA3C	7278	broad.mit.edu	37	13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	146					'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)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562																																						ENST00000400113.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999871	0.990000	1.000000																										0				72						c.(436-438)gGc>gAc		tubulin, alpha 3c							69.0	69.0	69.0					13																	19751686		2203	4300	6503	SO:0001583	missense	7278	0	0					g.chr13:19751686C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.437G>A	chr13.hg19:g.19751686C>T	ENSP00000382982:p.Gly146Asp	0						p.G146D	NM_006001.2	NP_005992.1	0	0	0	1.903942	Q13748	TBA3C_HUMAN		4	541	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	1	1	hg19	c.437G>A	CCDS9284.1	1	.	.	.	.	.	.	.	.	.	.	c	9.493	1.101209	0.20632	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.96200	-3.94	1.19	1.19	0.21007	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000187	D	0.95478	0.8531	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	D	0.94286	0.7524	7	0.87932	D	0	.	8.3041	0.32032	0.0:1.0:0.0:0.0	.	.	.	.	D	146	ENSP00000382982:G146D	ENSP00000354037:G146D	G	-	2	0	0	TUBA3C	18649686	18649686	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.253000	0.72453	0.966000	0.38159	0.162000	0.16502	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-19.999990	1	0.170000	NM_006001			60	58		396	389	1		1			0	0	101	0		1	0	0	0	0	0	0	60	396
TPTE2	93492	broad.mit.edu	37	13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000400230.2	-	11	809	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	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)			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)		TTCGATGTTTCTTATCTAGAA	0.363																																						ENST00000400230.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.989374	0.990000	1.000000																										0				65						c.(763-765)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							126.0	111.0	116.0					13																	20025342		2203	4299	6502	SO:0001583	missense	93492	0	0					g.chr13:20025342C>A	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.765G>T	chr13.hg19:g.20025342C>A	ENSP00000383089:p.Lys255Asn	0					TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N	p.K255N			0	0	0	1.903942	Q6XPS3	TPTE2_HUMAN		11	809	-		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)	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	1	1	hg19	c.765G>T	CCDS45014.1	1	.	.	.	.	.	.	.	.	.	.	c	2.644	-0.283456	0.05642	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	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	2.63	0.805	0.18703	2.63	0.805	0.18703	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.15955	0.0384	N	0.24115	0.695	0.22581	N	0.998966	B;B;B	0.22851	0.042;0.062;0.076	B;B;B	0.28305	0.088;0.053;0.088	T	0.16276	-1.0408	9	.	.	.	-4.094	3.5972	0.08010	0.1609:0.2761:0.563:0.0	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215N;ENSP00000382974:K144N;ENSP00000383089:K255N;ENSP00000255310:K178N;ENSP00000375098:K178N;ENSP00000372437:K255N;ENSP00000372435:K215N;ENSP00000442218:K144N	.	K	-	3	2	2	TPTE2	18923342	18923342	0.173000	0.23056	0.349000	0.25694	0.182000	0.23217	-1.029000	0.03585	0.182000	0.20032	0.194000	0.17425	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	84	1	2.060000	-20.000000	1	0.170000	NM_199254			28	26		217	212	1		1	0		0	0	81	0		1	0	0	0	0	1	0	28	217
TPTE2	93492	broad.mit.edu	37	13	20077418	20077418	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20077418C>A	ENST00000382977.4	-	2	168		c.e2-1		TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000382978.1_5'Flank	NM_199254.2	NP_954863.2	Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						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)			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)		TGTGGGTGGACTAGAGGATGA	0.358																																						ENST00000382977.4	0.720000	0.190000	5.700000e-01	2.900000e-01	0.410000	0.436440	0.410000	0.390000																										0				65						c.e2-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							142.0	110.0	120.0					13																	20077418		2203	4300	6503	SO:0001630	splice_region_variant	93492	0	0					g.chr13:20077418C>A	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	ENST00000382977.4:c.43-1G>T	chr13.hg19:g.20077418C>A		0					TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000382978.1_5'Flank|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000390680.2_Splice_Site		NM_199254.2	NP_954863.2	0	0	0	1.903942	Q6XPS3	TPTE2_HUMAN		2	168	-		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)	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000382977.4	0	1	hg19		CCDS45014.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TPTE2-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	48		48	52	1	2.060000	-9.926006	1	0.170000	NM_199254	Intron		8	1		214	184	0		0			0	0	48	0		9.791018e-01	0	0	0	0	0	0	8	214
PSPC1	55269	broad.mit.edu	37	13	20325517	20325517	+	Missense_Mutation	SNP	C	C	A	rs201202987	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20325517C>A	ENST00000338910.4	-	4	1020	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	287	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				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)			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)		CACGCTGCTGCTTTTCCATTT	0.428																																						ENST00000338910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(859-861)aaG>aaT		paraspeckle component 1							177.0	161.0	166.0					13																	20325517		1909	4126	6035	SO:0001583	missense	55269	0	0					g.chr13:20325517C>A	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.861G>T	chr13.hg19:g.20325517C>A	ENSP00000343966:p.Lys287Asn	0						p.K287N	NM_001042414.2	NP_001035879.1	0	0	0	1.903942	Q8WXF1	PSPC1_HUMAN		4	1020	-		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)	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	1	0	hg19	c.861G>T	CCDS41870.1	1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409324	0.42715	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.21543	2.0	4.83	3.99	0.46301	4.83	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.72479	2.2	0.80722	D	1	B	0.20780	0.048	B	0.25614	0.062	T	0.10154	-1.0642	10	0.72032	D	0.01	-24.8617	13.155	0.59511	0.0:0.9221:0.0:0.0779	.	287	Q8WXF1	PSPC1_HUMAN	N	287;227	ENSP00000343966:K287N	ENSP00000343966:K287N	K	-	3	2	2	PSPC1	19223517	19223517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	1.172000	0.42781	0.555000	0.69702	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2	1	0	1		2	2	2	0		0	0	117		117	121	1	2.060000	-4.245040	1	0.170000				147	138		685	649	1		1	1		0	0	117	0		1	1	0	41	0	94	0	147	685
ZMYM5	9205	broad.mit.edu	37	13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	386						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)		ACTAGGCATGTACTCTCCACA	0.373																																						ENST00000337963.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				15						c.(1156-1158)tAc>tGc		zinc finger, MYM-type 5							137.0	115.0	122.0					13																	20409711		1568	3582	5150	SO:0001583	missense	9205	1	120688	26				g.chr13:20409711T>C	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.1157A>G	chr13.hg19:g.20409711T>C	ENSP00000337034:p.Tyr386Cys	0						p.Y386C	NM_001142684.1	NP_001136156.1	0	0	0	1.903942	Q9UJ78	ZMYM5_HUMAN		7	1421	-		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)	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	1	1	hg19	c.1157A>G		1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065139	0.76187	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.27720	1.65;1.66	4.88	4.88	0.63580	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67593	-0.5631	10	0.87932	D	0	-10.2506	14.9478	0.71047	0.0:0.0:0.0:1.0	.	386	Q9UJ78	ZMYM5_HUMAN	C	386;376	ENSP00000337034:Y386C;ENSP00000445779:Y376C	ENSP00000337034:Y386C	Y	-	2	0	0	ZMYM5	19307711	19307711	1.000000	0.71417	0.800000	0.32199	0.950000	0.60333	7.459000	0.80802	2.176000	0.68965	0.454000	0.30748	TAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_014242			39	39		117	111	1		1	1		0	0	45	0		1	9.994100e-01	0	10	0	28	0	39	117
ZMYM2	7750	broad.mit.edu	37	13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382874.2	+	14	2583	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398																																						ENST00000382874.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(2392-2394)cGt>cAt		zinc finger, MYM-type 2							117.0	118.0	118.0					13																	20625673		1919	4132	6051	SO:0001583	missense	7750	2	120846	34				g.chr13:20625673G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2393G>A	chr13.hg19:g.20625673G>A	ENSP00000372327:p.Arg798His	0					ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H	p.R798H	NM_001190964.1	NP_001177893.1	0	0	0	1.903942	Q9UBW7	ZMYM2_HUMAN		14	2583	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	1	1	hg19	c.2393G>A	CCDS45016.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46063	2.21;0.88	5.63	5.63	0.86233	5.63	5.63	0.86233	TRASH (1);Zinc finger, MYM-type (1);	0.147068	0.64402	D	0.000014	T	0.59770	0.2218	L	0.47716	1.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.70935	0.971	T	0.57207	-0.7851	10	0.49607	T	0.09	-6.5552	19.6626	0.95878	0.0:0.0:1.0:0.0	.	798	Q9UBW7	ZMYM2_HUMAN	H	798;798;796;796;280;176	ENSP00000372322:R798H;ENSP00000372336:R280H	ENSP00000372322:R798H	R	+	2	0	0	ZMYM2	19523673	19523673	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.016000	0.64041	2.643000	0.89663	0.655000	0.94253	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_003453			53	52		170	166	1		1	1		0	0	54	0		1	1	0	31	0	121	0	53	170
ZMYM2	7750	broad.mit.edu	37	13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382874.2	+	18	2987	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408																																						ENST00000382874.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999492	0.990000	1.000000																										0				10						c.(2797-2799)Gca>Aca		zinc finger, MYM-type 2							64.0	61.0	62.0					13																	20635250		1898	4134	6032	SO:0001583	missense	7750	0	0					g.chr13:20635250G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2797G>A	chr13.hg19:g.20635250G>A	ENSP00000372327:p.Ala933Thr	0					ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T	p.A933T	NM_001190964.1	NP_001177893.1	0	0	0	1.903942	Q9UBW7	ZMYM2_HUMAN		18	2987	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	1	1	hg19	c.2797G>A	CCDS45016.1	1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136700	0.06711	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.15718	2.4	5.54	2.83	0.33086	5.54	2.83	0.33086	.	0.542317	0.22326	N	0.061523	T	0.08179	0.0204	N	0.16233	0.39	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.02654	T	1	-1.6549	9.643	0.39850	0.0659:0.0:0.6795:0.2546	.	933	Q9UBW7	ZMYM2_HUMAN	T	933;933;931;931;311	ENSP00000372322:A933T	ENSP00000372322:A933T	A	+	1	0	0	ZMYM2	19533250	19533250	0.002000	0.14202	0.007000	0.13788	0.877000	0.50540	1.299000	0.33424	0.369000	0.24510	0.655000	0.94253	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_003453			20	20		68	67	1		1	1		0	0	28	0		9.999976e-01	1	0	36	0	99	0	20	68
GJA3	2700	broad.mit.edu	37	13	20716897	20716897	+	Silent	SNP	C	C	T	rs532650165		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	177					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597																																						ENST00000241125.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				7						c.(529-531)ccG>ccA		gap junction protein, alpha 3, 46kDa							49.0	47.0	48.0					13																	20716897		2203	4300	6503	SO:0001819	synonymous_variant	2700	0	0					g.chr13:20716897C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.531G>A	chr13.hg19:g.20716897C>T		0						p.P177P	NM_021954.3	NP_068773.2	0	0	0	1.903942	Q9Y6H8	CXA3_HUMAN		2	707	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	Q0VAB7|Q9H537	Silent	SNP	ENST00000241125.3	1	1	hg19	c.531G>A	CCDS9289.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	0	0	1		21	2	2	1		1	1	54		54	53	1	2.060000	-3.338680	1	0.170000	NM_021954			61	62		310	304	0		1			1	0	54	0		9.999993e-01	0	0	0	0	0	0	61	310
GJA3	2700	broad.mit.edu	37	13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	96					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATGTGCAGCACGTGGCCCAGG	0.607																																						ENST00000241125.3	1.000000	0.630000	1	8.600000e-01	0.990000	0.949312	0.990000	1.000000																										0				7						c.(286-288)Gtg>Atg		gap junction protein, alpha 3, 46kDa							62.0	56.0	58.0					13																	20717142		2203	4300	6503	SO:0001583	missense	2700	1	121350	17				g.chr13:20717142C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.286G>A	chr13.hg19:g.20717142C>T	ENSP00000241125:p.Val96Met	0						p.V96M	NM_021954.3	NP_068773.2	0	0	0	1.903942	Q9Y6H8	CXA3_HUMAN		2	462	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	0	1	hg19	c.286G>A	CCDS9289.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848041	0.91277	.	.	ENSG00000121743	ENST00000241125	D	0.99239	-5.61	5.36	5.36	0.76844	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99115	0.9695	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.99879	1.1110	10	0.72032	D	0.01	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	96	Q9Y6H8	CXA3_HUMAN	M	96	ENSP00000241125:V96M	ENSP00000241125:V96M	V	-	1	0	0	GJA3	19615142	19615142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.837000	0.62796	2.517000	0.84864	0.561000	0.74099	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-17.003580	1	0.170000	NM_021954			10	10		77	75	1		1	0		0	0	13	0		9.971191e-01	1.647940e-02	0	1	0	1	0	10	77
GJB2	2706	broad.mit.edu	37	13	20763277	20763277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	148			A -> P. {ECO:0000269|PubMed:15954104}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				7						c.(442-444)gcC>gcT		gap junction protein, beta 2, 26kDa							113.0	100.0	104.0					13																	20763277		2203	4300	6503	SO:0001819	synonymous_variant	2706	1	121412	29	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	g.chr13:20763277G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.444C>T	chr13.hg19:g.20763277G>A		0		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Silent_p.A148A	p.A148A			0	0	0	1.903942	P29033	CXB2_HUMAN		1	642	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	1	1	hg19	c.444C>T	CCDS9290.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1	1	0	1		2	2	2	0		0	0	70		70	66	1	2.060000	-2.723103	1	0.170000				58	57		316	305	1		1	1		0	0	70	0		1	9.999873e-01	0	24	0	68	0	58	316
GJB6	10804	broad.mit.edu	37	13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	62					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)				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)		TAGCACACATTTTTGCATCCC	0.567																																						ENST00000356192.6	0.510000	0.120000	4.000000e-01	1.900000e-01	0.280000	0.299825	0.280000	0.260000																										0				9						c.(184-186)Aat>Cat		gap junction protein, beta 6, 30kDa							100.0	78.0	86.0					13																	20797436		2203	4300	6503	SO:0001583	missense	10804	0	0					g.chr13:20797436T>G	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.184A>C	chr13.hg19:g.20797436T>G	ENSP00000348521:p.Asn62His	0					GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H	p.N62H	NM_001110219.2	NP_001103689.1	0	0	0	1.903942	O95452	CXB6_HUMAN		5	804	-		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)	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	1	1	hg19	c.184A>C	CCDS9291.1	0	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916291	0.52546	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.38	5.38	0.77491	5.38	5.38	0.77491	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.94142	3.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	62	O95452	CXB6_HUMAN	H	62	ENSP00000241124:N62H;ENSP00000382938:N62H;ENSP00000382939:N62H;ENSP00000348521:N62H	ENSP00000241124:N62H	N	-	1	0	0	GJB6	19695436	19695436	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	7.991000	0.88244	2.030000	0.59900	0.533000	0.62120	AAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1	0	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-8.366155	1	0.170000				7	7		283	279	0		1	0		0	0	75	0		9.799760e-01	8.415541e-04	0	1	0	1	0	7	283
GJB6	10804	broad.mit.edu	37	13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	11			G -> R (in ECTD2). {ECO:0000269|PubMed:11017065}.	G -> E (in Ref. 9; AAV67951). {ECO:0000305}.	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)				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)		TTGACACCCCCGATGAAAGTG	0.507																																						ENST00000356192.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9	GRCh37	CM002605	GJB6	M	rs104894415	c.(31-33)Ggg>Agg		gap junction protein, beta 6, 30kDa							124.0	115.0	118.0					13																	20797589		2203	4300	6503	SO:0001583	missense	10804	0	0					g.chr13:20797589C>T	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.31G>A	chr13.hg19:g.20797589C>T	ENSP00000348521:p.Gly11Arg	0					GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	p.G11R	NM_001110219.2	NP_001103689.1	0	0	0	1.903942	O95452	CXB6_HUMAN		5	651	-		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)	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	1	1	hg19	c.31G>A	CCDS9291.1	1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164711	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.38	5.38	0.77491	5.38	5.38	0.77491	Connexin, N-terminal (1);	0.134693	0.49916	D	0.000127	D	0.98789	0.9592	L	0.60455	1.87	0.51482	A	0.999923	D	0.89917	1.0	D	0.65010	0.931	D	0.99917	1.1229	9	0.62326	D	0.03	.	12.4904	0.55897	0.0:0.9239:0.0:0.076	.	11	O95452	CXB6_HUMAN	R	11	ENSP00000241124:G11R;ENSP00000382938:G11R;ENSP00000382939:G11R;ENSP00000348521:G11R	ENSP00000241124:G11R	G	-	1	0	0	GJB6	19695589	19695589	0.972000	0.33761	0.859000	0.33776	0.021000	0.10359	2.917000	0.48821	2.507000	0.84556	0.655000	0.94253	GGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-2.680447	1	0.170000				115	113		531	520	1		1			0	0	132	0		1	0	0	0	0	0	0	115	531
IFT88	8100	broad.mit.edu	37	13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000319980.6	+	19	1840	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	505					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)				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)		TACAGTTTTTGCAAATGGTGA	0.368																																						ENST00000319980.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1513-1515)Gca>Aca		intraflagellar transport 88							98.0	104.0	102.0					13																	21212570		2203	4300	6503	SO:0001583	missense	8100	0	0					g.chr13:21212570G>A	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.1513G>A	chr13.hg19:g.21212570G>A	ENSP00000323580:p.Ala505Thr	0					IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T	p.A505T	NM_175605.3	NP_783195.2	0	0	0	1.903942	Q13099	IFT88_HUMAN		19	1840	+		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)	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	1	1	hg19	c.1513G>A	CCDS31944.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725880	0.48833	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.74	5.74	0.90152	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.115379	0.64402	D	0.000016	T	0.36138	0.0956	N	0.11756	0.17	0.39382	D	0.966273	P;B;P	0.43231	0.547;0.02;0.801	B;B;B	0.38156	0.117;0.043;0.266	T	0.29243	-1.0018	10	0.13470	T	0.59	-19.7492	13.1671	0.59577	0.0728:0.0:0.9272:0.0	.	477;303;505	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	505;368;496;505;477	ENSP00000372228:A505T;ENSP00000261632:A496T;ENSP00000323580:A505T;ENSP00000437719:A477T	ENSP00000323580:A505T	A	+	1	0	0	IFT88	20110570	20110570	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.208000	0.72165	2.710000	0.92621	0.561000	0.74099	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_006531			94	93		438	435	1		1	1		0	0	85	0		1	9.559237e-01	0	5	0	21	0	94	438
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	203						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463																																						ENST00000382758.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(607-609)tAt>tGt		N-6 adenine-specific DNA methyltransferase 2 (putative)							225.0	211.0	215.0					13																	21303256		2203	4300	6503	SO:0001583	missense	221143	0	0					g.chr13:21303256T>C	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.608A>G	chr13.hg19:g.21303256T>C	ENSP00000372206:p.Tyr203Cys	0					N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C	p.Y203C			0	0	0	1.903942	Q8WVE0	N6MT2_HUMAN		5	655	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	1	1	hg19	c.608A>G	CCDS9293.1	1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.86	4.66	0.58398	5.86	4.66	0.58398	.	0.124958	0.56097	D	0.000029	T	0.59500	0.2198	M	0.82323	2.585	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.60424	-0.7266	10	0.54805	T	0.06	.	12.3921	0.55364	0.1262:0.0:0.0:0.8737	.	203	Q8WVE0	N6MT2_HUMAN	C	203	ENSP00000372206:Y203C;ENSP00000372202:Y203C	ENSP00000372202:Y203C	Y	-	2	0	0	N6AMT2	20201256	20201256	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	4.848000	0.62874	1.025000	0.39708	0.533000	0.62120	TAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	1	0	1		2	2	2	0		0	0	207		207	205	1	2.060000	-20.000000	1	0.170000	NM_174928			135	133		770	760	1		1	1		0	0	207	0		1	9.931488e-01	0	15	0	30	0	135	770
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	471					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428																																						ENST00000255305.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999876	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R444*(1)	large_intestine(1)	41						c.(1411-1413)Cga>Tga		exportin 4							132.0	126.0	128.0					13																	21383304		1900	4121	6021	SO:0001587	stop_gained	64328	2	120852	29				g.chr13:21383304G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1411C>T	chr13.hg19:g.21383304G>A	ENSP00000255305:p.Arg471*	0					XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*	p.R471*			0	0	0	1.903942	Q9C0E2	XPO4_HUMAN		11	1482	-		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)	Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	0	1	hg19	c.1411C>T	CCDS41872.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	2	XPO4	20281304	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.142728	1	0.170000	NM_022459			61	59		404	395	0		1	1		0	0	84	0		1	9.149470e-01	0	2	0	28	0	61	404
XPO4	64328	broad.mit.edu	37	13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000255305.6	-	10	1399	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000400602.2_Missense_Mutation_p.A443V			Q9C0E2	XPO4_HUMAN	exportin 4	443					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		GCCATCTGGAGCAGCTAGGTG	0.343																																						ENST00000255305.6	1.000000	0.860000	1	9.900000e-01	0.990000	0.991280	0.990000	1.000000																										0				41						c.(1327-1329)gCt>gTt		exportin 4							76.0	73.0	74.0					13																	21383952		1838	4091	5929	SO:0001583	missense	64328	0	0					g.chr13:21383952G>A	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.1328C>T	chr13.hg19:g.21383952G>A	ENSP00000255305:p.Ala443Val	0					XPO4_ENST00000400602.2_Missense_Mutation_p.A443V	p.A443V			0	0	0	1.903942	Q9C0E2	XPO4_HUMAN		10	1399	-		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)	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	1	1	hg19	c.1328C>T	CCDS41872.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382149	0.82792	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.47869	0.83;0.83	5.98	5.98	0.97165	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.55481	1.735	0.80722	D	1	B	0.28880	0.226	B	0.29524	0.103	T	0.34054	-0.9844	10	0.16420	T	0.52	-23.9262	20.4434	0.99119	0.0:0.0:1.0:0.0	.	443	Q9C0E2	XPO4_HUMAN	V	443;313;443	ENSP00000383444:A443V;ENSP00000255305:A443V	ENSP00000255305:A443V	A	-	2	0	0	XPO4	20281952	20281952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.406000	0.97321	2.838000	0.97847	0.655000	0.94253	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-11.524570	1	0.170000	NM_022459			21	20		143	141	1		1	1		0	0	44	0		9.999981e-01	9.407478e-01	0	2	0	33	0	21	143
LATS2	26524	broad.mit.edu	37	13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											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)		AAGAACCTTCGGAAGGTGAAT	0.512																																						ENST00000382592.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3127-3129)Cga>Tga		large tumor suppressor kinase 2							200.0	181.0	187.0					13																	21549149		2203	4300	6503	SO:0001587	stop_gained	26524	0	0					g.chr13:21549149G>A	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.3127C>T	chr13.hg19:g.21549149G>A	ENSP00000372035:p.Arg1043*	0					LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	p.R1043*	NM_014572.2	NP_055387.2	0	0	0	1.903942				8	3532	-		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)		Nonsense_Mutation	SNP	ENST00000382592.4	0	1	hg19	c.3127C>T	CCDS9294.1	1	.	.	.	.	.	.	.	.	.	.	G	40	7.991726	0.98599	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	6.07	5.16	0.70880	6.07	5.16	0.70880	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	.	.	.	X	1043	.	ENSP00000372035:R1043X	R	-	1	2	2	LATS2	20447149	20447149	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	6.238000	0.72350	2.885000	0.99019	0.655000	0.94253	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-2.523174	1	0.170000				98	96		554	541	1		1	1		0	0	113	0		1	1	0	30	0	144	0	98	554
LATS2	26524	broad.mit.edu	37	13	21562824	21562824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.T365T	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											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)		GCTGGACGGAGGTGCTGCCCA	0.726																																						ENST00000382592.4	1.000000	0.770000	1	9.400000e-01	0.990000	0.974692	0.990000	1.000000																										0				45						c.(1093-1095)acC>acA		large tumor suppressor kinase 2							23.0	25.0	24.0					13																	21562824		2164	4169	6333	SO:0001819	synonymous_variant	26524	0	0					g.chr13:21562824G>T	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.1095C>A	chr13.hg19:g.21562824G>T		0					LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.T365T	p.T365T	NM_014572.2	NP_055387.2	0	0	0	1.903942				4	1500	-		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)		Silent	SNP	ENST00000382592.4	1	1	hg19	c.1095C>A	CCDS9294.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				25	25		214	210	0		1	1		0	0	35	0		9.999999e-01	5.534769e-01	0	2	0	15	0	25	214
SAP18	10284	broad.mit.edu	37	13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000607003.1	+	3	249	c.217G>A	c.(217-219)Gta>Ata	p.V73I	SAP18_ENST00000382533.4_Missense_Mutation_p.V92I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	73					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343																																						ENST00000607003.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				6						c.(217-219)Gta>Ata		Sin3A-associated protein, 18kDa							102.0	98.0	99.0					13																	21720978		2203	4300	6503	SO:0001583	missense	10284	0	0					g.chr13:21720978G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.217G>A	chr13.hg19:g.21720978G>A	ENSP00000475925:p.Val73Ile	0					SAP18_ENST00000382533.4_Missense_Mutation_p.V92I	p.V73I			0	0	0	1.903942	O00422	SAP18_HUMAN		3	249	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	1	1	hg19	c.217G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719292|2.719292	0.48728|0.48728	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.72|5.72	4.88|4.88	0.63580|0.63580	5.72|5.72	4.88|4.88	0.63580|0.63580	.|.	.|0.051574	.|0.85682	.|D	.|0.000000	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.32211	.|0.142	T|T	0.49380|0.49380	-0.8946|-0.8946	5|9	.|0.25751	.|T	.|0.34	-27.8251|-27.8251	14.9155|14.9155	0.70792|0.70792	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	.|73	.|O00422	.|SAP18_HUMAN	N|I	86|92	.|.	.|ENSP00000371973:V92I	S|V	+|+	2|1	0|0	0|0	SAP18|SAP18	20618978|20618978	20618978|20618978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.614000|9.614000	0.98353|0.98353	1.424000|1.424000	0.47217|0.47217	0.555000|0.555000	0.69702|0.69702	AGT|GTA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_005870			58	58		284	282	1		1	1		0	0	69	0		1	1	0	265	0	796	0	58	284
SKA3	221150	broad.mit.edu	37	13	21729846	21729846	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000314759.5	-	8	1348	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	408					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)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363																																						ENST00000314759.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.997023	0.990000	1.000000																										0				19						c.(1222-1224)agC>agT		spindle and kinetochore associated complex subunit 3							175.0	170.0	172.0					13																	21729846		2203	4300	6503	SO:0001819	synonymous_variant	221150	0	0					g.chr13:21729846G>A	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.1224C>T	chr13.hg19:g.21729846G>A		0					SKA3_ENST00000400018.3_Intron	p.S408S	NM_145061.5	NP_659498.4	0	0	0	1.903942	Q8IX90	SKA3_HUMAN		8	1348	-			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	ENST00000314759.5	1	1	hg19	c.1224C>T	CCDS31946.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	1	0	1		2	2	2	0		0	0	116		116	111	1	2.060000	-19.990990	1	0.170000	NM_145061			67	65		552	504	0		1	0		0	0	116	0		1	4.234069e-01	0	1	0	12	0	67	552
SKA3	221150	broad.mit.edu	37	13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000314759.5	-	7	1110	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	329					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)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333																																						ENST00000314759.5	1.000000	0.790000	1	9.100000e-01	0.990000	0.969520	0.990000	1.000000																										0				19						c.(985-987)tCg>tTg		spindle and kinetochore associated complex subunit 3							112.0	120.0	118.0					13																	21732194		2203	4300	6503	SO:0001583	missense	221150	6	121412	41				g.chr13:21732194G>A	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.986C>T	chr13.hg19:g.21732194G>A	ENSP00000319417:p.Ser329Leu	0					SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	p.S329L	NM_145061.5	NP_659498.4	0	0	0	1.903942	Q8IX90	SKA3_HUMAN		7	1110	-			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	1	1	hg19	c.986C>T	CCDS31946.1	1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440333	0.43326	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.28454	1.62;1.61	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.247257	0.39274	N	0.001409	T	0.48537	0.1505	L	0.47716	1.5	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.917;0.939	T	0.37753	-0.9692	10	0.49607	T	0.09	-1.2477	17.1559	0.86791	0.0:0.0:1.0:0.0	.	329;329	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	329	ENSP00000319417:S329L;ENSP00000382896:S329L	ENSP00000319417:S329L	S	-	2	0	0	SKA3	20630194	20630194	0.561000	0.26578	0.010000	0.14722	0.026000	0.11368	3.939000	0.56591	2.837000	0.97791	0.591000	0.81541	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-15.099740	1	0.170000	NM_145061			49	48		470	459	0		1	1		0	0	108	0		1	3.221559e-01	0	2	0	10	0	49	470
SACS	26278	broad.mit.edu	37	13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T	rs374048886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382292.3	-	9	13616	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000402364.1_Missense_Mutation_p.R3698H|SACS_ENST00000382298.3_Missense_Mutation_p.R4448H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4448					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)			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)		TAGCCATCTGCGTGCTTCCAC	0.468																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				189						c.(13342-13344)cGc>cAc		sacsin molecular chaperone		C	HIS/ARG	0,4406		0,0,2203	81.0	88.0	86.0		13343	5.8	0.1	13		86	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	4448/4580	23904672	1,13003	2203	4299	6502	SO:0001583	missense	26278	1	121412	33				g.chr13:23904672C>T	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.13343G>A	chr13.hg19:g.23904672C>T	ENSP00000371729:p.Arg4448His	0					SACS_ENST00000402364.1_Missense_Mutation_p.R3698H|SACS_ENST00000382298.3_Missense_Mutation_p.R4448H	p.R4448H			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	13616	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.13343G>A	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325834	0.60743	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	5.85	5.85	0.93711	5.85	5.85	0.93711	HEPN (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.76071	0.987	D	0.91393	0.5137	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4448	Q9NZJ4	SACS_HUMAN	H	4448;3698;4448	ENSP00000371729:R4448H;ENSP00000385844:R3698H;ENSP00000371735:R4448H	ENSP00000371729:R4448H	R	-	2	0	0	SACS	22802672	22802672	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	5.920000	0.70017	2.767000	0.95098	0.563000	0.77884	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000	NM_014363			88	86		581	567	1		1	0		0	0	114	0		1	8.576309e-01	0	1	0	24	0	88	581
SACS	26278	broad.mit.edu	37	13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382292.3	-	9	13265	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q|SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4331	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.		R -> Q (in SACS). {ECO:0000269|PubMed:18465152}.		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)			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)		CAAATACAACCGCCTAATAAT	0.353																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(12991-12993)cGg>cAg		sacsin molecular chaperone							111.0	121.0	118.0					13																	23905023		2203	4299	6502	SO:0001583	missense	26278	0	0					g.chr13:23905023C>T	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.12992G>A	chr13.hg19:g.23905023C>T	ENSP00000371729:p.Arg4331Gln	0					SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q|SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q	p.R4331Q			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	13265	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.12992G>A	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.263552	0.95399	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.83335	-1.71;-1.71;-1.71	5.83	5.83	0.93111	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.39397	1.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.88950	0.3386	10	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	4331	Q9NZJ4	SACS_HUMAN	Q	4331;3581;4331	ENSP00000371729:R4331Q;ENSP00000385844:R3581Q;ENSP00000371735:R4331Q	ENSP00000371729:R4331Q	R	-	2	0	0	SACS	22803023	22803023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.814000	0.86154	2.746000	0.94184	0.563000	0.77884	CGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-3.221884	1	0.170000	NM_014363			131	129		846	831	1		1	1		0	0	172	0		1	9.696939e-01	0	7	0	31	0	131	846
SACS	26278	broad.mit.edu	37	13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382292.3	-	9	12476	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000402364.1_Missense_Mutation_p.S3318I|SACS_ENST00000382298.3_Missense_Mutation_p.S4068I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4068					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)			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)		TTCACTTCTGCTGTGGGGAAT	0.353																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(12202-12204)aGc>aTc		sacsin molecular chaperone							61.0	60.0	60.0					13																	23905812		2203	4300	6503	SO:0001583	missense	26278	0	0					g.chr13:23905812C>A	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.12203G>T	chr13.hg19:g.23905812C>A	ENSP00000371729:p.Ser4068Ile	0					SACS_ENST00000402364.1_Missense_Mutation_p.S3318I|SACS_ENST00000382298.3_Missense_Mutation_p.S4068I	p.S4068I			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	12476	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.12203G>T	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335478	0.81801	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.38;-2.53;-2.38	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.92305	0.5853	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	4068	Q9NZJ4	SACS_HUMAN	I	4068;3318;4068	ENSP00000371729:S4068I;ENSP00000385844:S3318I;ENSP00000371735:S4068I	ENSP00000371729:S4068I	S	-	2	0	0	SACS	22803812	22803812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.754000	0.85163	2.462000	0.83206	0.655000	0.94253	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_014363			59	58		223	220	1		1	1		0	0	58	0		1	9.490696e-01	0	3	0	18	0	59	223
SACS	26278	broad.mit.edu	37	13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382292.3	-	9	8141	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000402364.1_Missense_Mutation_p.G1873V|SACS_ENST00000382298.3_Missense_Mutation_p.G2623V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2623					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)			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)		GAATCCTATTCCATACTGTCC	0.388																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(7867-7869)gGa>gTa		sacsin molecular chaperone							106.0	110.0	109.0					13																	23910147		2203	4300	6503	SO:0001583	missense	26278	0	0					g.chr13:23910147C>A	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.7868G>T	chr13.hg19:g.23910147C>A	ENSP00000371729:p.Gly2623Val	0					SACS_ENST00000402364.1_Missense_Mutation_p.G1873V|SACS_ENST00000382298.3_Missense_Mutation_p.G2623V	p.G2623V			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	8141	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.7868G>T	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943189	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.99818	-6.92;-6.92;-6.92	5.5	5.5	0.81552	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96931	0.9681	10	0.87932	D	0	.	19.3858	0.94555	0.0:1.0:0.0:0.0	.	2623	Q9NZJ4	SACS_HUMAN	V	2623;1873;2623	ENSP00000371729:G2623V;ENSP00000385844:G1873V;ENSP00000371735:G2623V	ENSP00000371729:G2623V	G	-	2	0	0	SACS	22808147	22808147	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.487000	0.81328	2.590000	0.87494	0.462000	0.41574	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_014363			79	78		379	370	1		1	1		0	0	92	0		1	6.843602e-01	0	5	0	8	0	79	379
SACS	26278	broad.mit.edu	37	13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382292.3	-	9	7486	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2405					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)			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)		TCAATAGATTCCAAAACAAGA	0.363																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				189						c.(7213-7215)Gaa>Taa		sacsin molecular chaperone							39.0	39.0	39.0					13																	23910802		2202	4299	6501	SO:0001587	stop_gained	26278	0	0					g.chr13:23910802C>A	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.7213G>T	chr13.hg19:g.23910802C>A	ENSP00000371729:p.Glu2405*	0					SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*	p.E2405*			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	7486	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	0	1	hg19	c.7213G>T	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	56	26.674665	0.99969	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.108347	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	.	.	.	X	2405;1655;2405	.	ENSP00000371729:E2405X	E	-	1	0	0	SACS	22808802	22808802	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.599000	0.61076	2.722000	0.93159	0.655000	0.94253	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_014363			35	34		163	161	1		1	0		0	0	42	0		1	4.977538e-01	0	1	0	8	0	35	163
SACS	26278	broad.mit.edu	37	13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382292.3	-	9	6997	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000402364.1_Missense_Mutation_p.A1492T|SACS_ENST00000382298.3_Missense_Mutation_p.A2242T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2242					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)			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)		AGGTCAGTTGCTGCAAACATG	0.373																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				189						c.(6724-6726)Gca>Aca		sacsin molecular chaperone							63.0	65.0	65.0					13																	23911291		2202	4299	6501	SO:0001583	missense	26278	0	0					g.chr13:23911291C>T	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.6724G>A	chr13.hg19:g.23911291C>T	ENSP00000371729:p.Ala2242Thr	0					SACS_ENST00000402364.1_Missense_Mutation_p.A1492T|SACS_ENST00000382298.3_Missense_Mutation_p.A2242T	p.A2242T			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	6997	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.6724G>A	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995804	0.74703	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.055383	0.64402	D	0.000001	D	0.92100	0.7496	M	0.61703	1.905	0.48696	D	0.999694	D	0.59357	0.985	P	0.53518	0.728	D	0.92488	0.5998	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2242	Q9NZJ4	SACS_HUMAN	T	2242;1492;2242	ENSP00000371729:A2242T;ENSP00000385844:A1492T;ENSP00000371735:A2242T	ENSP00000371729:A2242T	A	-	1	0	0	SACS	22809291	22809291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.584000	0.67490	2.706000	0.92434	0.655000	0.94253	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_014363			47	46		222	217	1		1	1		0	0	67	0		1	6.921700e-01	0	3	0	10	0	47	222
SACS	26278	broad.mit.edu	37	13	23912282	23912282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23912282C>T	ENST00000382292.3	-	9	6006	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	SACS_ENST00000402364.1_Silent_p.T1161T|SACS_ENST00000382298.3_Silent_p.T1911T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1911					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)			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)		GTCTCATGAACGTGGTATTCC	0.408																																						ENST00000382292.3	0.440000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.253976	0.230000	0.220000																										0				189						c.(5731-5733)acG>acA		sacsin molecular chaperone							162.0	134.0	144.0					13																	23912282		2203	4300	6503	SO:0001819	synonymous_variant	26278	2	121412	32				g.chr13:23912282C>T	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.5733G>A	chr13.hg19:g.23912282C>T		0					SACS_ENST00000402364.1_Silent_p.T1161T|SACS_ENST00000382298.3_Silent_p.T1911T	p.T1911T			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	6006	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	0	1	hg19	c.5733G>A	CCDS9300.2	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-7.149184	1	0.170000	NM_014363			7	7		337	330	0		1	0		0	0	68	0		9.794108e-01	1.889000e-02	0	0	0	9	0	7	337
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000402364.1_Missense_Mutation_p.R226H|SACS_ENST00000382298.3_Missense_Mutation_p.R976H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					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)			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)		GTTTGCCAGACGAATAGTAGC	0.348																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				189						c.(2926-2928)cGt>cAt		sacsin molecular chaperone							71.0	70.0	70.0					13																	23915088		2203	4300	6503	SO:0001583	missense	26278	5	121412	38				g.chr13:23915088C>T	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.2927G>A	chr13.hg19:g.23915088C>T	ENSP00000371729:p.Arg976His	0					SACS_ENST00000402364.1_Missense_Mutation_p.R226H|SACS_ENST00000382298.3_Missense_Mutation_p.R976H	p.R976H			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		9	3200	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.2927G>A	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	0	SACS	22813088	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_014363			63	62		296	293	1		1	0		0	0	95	0		1	4.272570e-01	0	1	0	7	0	63	296
SACS	26278	broad.mit.edu	37	13	23929330	23929330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929330C>T	ENST00000382292.3	-	7	1694	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.R474H|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	474					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)			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)		TATGCTCCTGCGGTTATCAGT	0.483																																						ENST00000382292.3	0.520000	0.120000	4.000000e-01	1.900000e-01	0.280000	0.302862	0.280000	0.270000																										0				189						c.(1420-1422)cGc>cAc		sacsin molecular chaperone							57.0	56.0	56.0					13																	23929330		2203	4300	6503	SO:0001583	missense	26278	0	0					g.chr13:23929330C>T	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.1421G>A	chr13.hg19:g.23929330C>T	ENSP00000371729:p.Arg474His	0					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.R474H|SACS_ENST00000476776.1_5'Flank	p.R474H			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		7	1694	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	0	1	hg19	c.1421G>A	CCDS9300.2	0	.	.	.	.	.	.	.	.	.	.	C	33	5.251455	0.95305	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.19669	2.13;2.13;2.13	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.88310	2.945	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.63166	-0.6698	10	0.87932	D	0	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	373;261;474	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	474;474;98	ENSP00000371729:R474H;ENSP00000371735:R474H;ENSP00000390925:R98H	ENSP00000371729:R474H	R	-	2	0	0	SACS	22827330	22827330	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.788000	0.95919	0.555000	0.69702	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.404834	1	0.170000	NM_014363			7	7		280	275	0		1	0		0	0	58	0		9.797148e-01	1.277928e-01	0	0	0	22	0	7	280
SACS	26278	broad.mit.edu	37	13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382292.3	-	7	1437	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	388					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)			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)		AAGATGTTTTCTGTGCATCCT	0.383																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				189						c.(1162-1164)caG>caT		sacsin molecular chaperone							123.0	123.0	123.0					13																	23929587		2203	4300	6503	SO:0001583	missense	26278	0	0					g.chr13:23929587C>A	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.1164G>T	chr13.hg19:g.23929587C>A	ENSP00000371729:p.Gln388His	0					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H|SACS_ENST00000476776.1_5'Flank	p.Q388H			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		7	1437	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.1164G>T	CCDS9300.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.373|9.373	1.071071|1.071071	0.20147|0.20147	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|D;D;T	.|0.87029	.|-2.2;-2.2;-1.13	5.72|5.72	-4.06|-4.06	0.03986|0.03986	5.72|5.72	-4.06|-4.06	0.03986|0.03986	.|.	.|0.339875	.|0.31872	.|N	.|0.006940	.|D	.|0.86167	.|0.5868	M|M	0.62723|0.62723	1.935|1.935	0.20764|0.20764	N|N	0.999855|0.999855	.|P;B;B	.|0.51057	.|0.941;0.129;0.007	.|P;B;B	.|0.53809	.|0.735;0.138;0.031	.|T	.|0.81057	.|-0.1105	.|10	.|0.54805	.|T	.|0.06	.|.	8.6511|8.6511	0.34035|0.34035	0.0:0.3169:0.1801:0.503|0.0:0.3169:0.1801:0.503	.|.	.|287;175;388	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	X|H	288|388;388;12	.|ENSP00000371729:Q388H;ENSP00000371735:Q388H;ENSP00000390925:Q12H	.|ENSP00000371729:Q388H	E|Q	-|-	1|3	0|2	0|2	SACS|SACS	22827587|22827587	22827587|22827587	0.276000|0.276000	0.24211|0.24211	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.005000|-0.005000	0.12855|0.12855	-0.905000|-0.905000	0.03871|0.03871	-0.786000|-0.786000	0.03341|0.03341	GAA|CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.319630	1	0.170000	NM_014363			57	56		341	338	1		1	1		0	0	87	0		1	7.518784e-01	0	6	0	12	0	57	341
SACS	26278	broad.mit.edu	37	13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382292.3	-	7	1064	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	264					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.G117D(1)|p.G264D(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)		TGGAAAATTGCCGTTTATAAA	0.388																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.G117D(1)|p.G264D(1)	endometrium(2)	189						c.(790-792)gGc>gAc		sacsin molecular chaperone							113.0	108.0	109.0					13																	23929960		2203	4300	6503	SO:0001583	missense	26278	0	0					g.chr13:23929960C>T	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.791G>A	chr13.hg19:g.23929960C>T	ENSP00000371729:p.Gly264Asp	0					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000476776.1_5'Flank	p.G264D			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		7	1064	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	1	1	hg19	c.791G>A	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342613	0.61073	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.91407	-2.84;-2.84	5.94	5.1	0.69264	5.94	5.1	0.69264	ATPase-like, ATP-binding domain (2);	0.110179	0.64402	D	0.000010	D	0.92668	0.7670	L	0.47716	1.5	0.45490	D	0.998454	D;B;B	0.56968	0.978;0.147;0.173	P;B;B	0.61397	0.888;0.138;0.068	D	0.91868	0.5505	10	0.36615	T	0.2	.	17.0221	0.86436	0.0:0.8658:0.1342:0.0	.	163;51;264	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	D	264	ENSP00000371729:G264D;ENSP00000371735:G264D	ENSP00000371729:G264D	G	-	2	0	0	SACS	22827960	22827960	1.000000	0.71417	0.649000	0.29536	0.772000	0.43724	5.028000	0.64115	1.506000	0.48736	0.650000	0.86243	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.673000	1	0.170000	NM_014363			86	84		340	334	1		1	1		0	0	79	0		1	8.831295e-01	0	5	0	12	0	86	340
SACS	26278	broad.mit.edu	37	13	23932601	23932601	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382292.3	-	6	750	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.Y159Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	159					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)			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)		CCGCGTTGTTGTACACATAGA	0.453																																						ENST00000382292.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				189						c.(475-477)taC>taT		sacsin molecular chaperone							115.0	115.0	115.0					13																	23932601		2203	4300	6503	SO:0001819	synonymous_variant	26278	0	0					g.chr13:23932601G>A	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.477C>T	chr13.hg19:g.23932601G>A		0					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.Y159Y	p.Y159Y			0	0	0	1.903942	Q9NZJ4	SACS_HUMAN		6	750	-		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)	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	1	1	hg19	c.477C>T	CCDS9300.2	1	.	.	.	.	.	.	.	.	.	.	G	7.069	0.567935	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.89	0.63831	5.74	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	.	.	.	X	59	.	.	Q	-	1	0	0	SACS	22830601	22830601	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.463000	0.53050	2.715000	0.92844	0.655000	0.94253	CAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1		20	2	2	1		1	1	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_014363			78	78		516	510	0		1	1		1	0	100	0		1	4.830927e-01	0	2	0	10	0	78	516
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382258.4	+	4	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382263.3_Silent_p.C95C	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	95					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572																																						ENST00000382258.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999663	0.990000	1.000000																										0				22						c.(283-285)tgC>tgT		tumor necrosis factor receptor superfamily, member 19							107.0	99.0	102.0					13																	24190110		2203	4300	6503	SO:0001819	synonymous_variant	55504	2	121412	36				g.chr13:24190110C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.285C>T	chr13.hg19:g.24190110C>T		0					TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000382263.3_Silent_p.C95C	p.C95C	NM_018647.3	NP_061117.2	0	0	0	1.903942	Q9NS68	TNR19_HUMAN		4	489	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	1	1	hg19	c.285C>T	CCDS9302.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	0	0	1		16	3	2	1		1	1	76		76	75	1	2.060000	-19.906430	1	0.170000	NM_018647			47	47		303	300	1		1	1		1	0	76	0		9.999901e-01	5.551432e-01	0	3	0	18	0	47	303
TNFRSF19	55504	broad.mit.edu	37	13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382258.4	+	5	641	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E146A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	146					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTCCTTACGAACCGCACTGT	0.468																																						ENST00000382258.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994814	0.990000	1.000000																										0				22						c.(436-438)gAa>gCa		tumor necrosis factor receptor superfamily, member 19							97.0	84.0	89.0					13																	24200923		2203	4300	6503	SO:0001583	missense	55504	1	121412	28				g.chr13:24200923A>C	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.437A>C	chr13.hg19:g.24200923A>C	ENSP00000371693:p.Glu146Ala	0					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E146A	p.E146A	NM_018647.3	NP_061117.2	0	0	0	1.903942	Q9NS68	TNR19_HUMAN		5	641	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	1	1	hg19	c.437A>C	CCDS9302.1	1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209581	0.58343	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.79475	2.455	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.54563	-0.8275	10	0.48119	T	0.1	-26.9284	15.3132	0.74053	1.0:0.0:0.0:0.0	.	14;146;146	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	A	146;14;146;146	ENSP00000248484:E146A;ENSP00000385408:E14A;ENSP00000371693:E146A;ENSP00000371698:E146A	ENSP00000248484:E146A	E	+	2	0	0	TNFRSF19	23098923	23098923	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_018647			28	27		197	195	1		1	0		0	0	41	0		1	3.704594e-01	0	0	0	10	0	28	197
TNFRSF19	55504	broad.mit.edu	37	13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T	rs368392120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382258.4	+	8	995	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P264L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	264					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCCAACCCGGCGACTCTT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16161	0.0		0.0	False		,,,				2504	0.001					ENST00000382258.4	1.000000	0.890000	1	9.900000e-01	0.990000	0.993644	0.990000	1.000000																										0				22						c.(790-792)cCg>cTg		tumor necrosis factor receptor superfamily, member 19		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405		0,1,2202	50.0	45.0	47.0		791,791,395,791	-1.9	0.0	13		47	0,8600		0,0,4300	no	missense,missense,missense,missense	TNFRSF19	NM_148957.3,NM_018647.3,NM_001204459.1,NM_001204458.1	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	264/418,264/424,132/286,264/418	24242173	1,13005	2203	4300	6503	SO:0001583	missense	55504	9	121386	33				g.chr13:24242173C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.791C>T	chr13.hg19:g.24242173C>T	ENSP00000371693:p.Pro264Leu	0					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P264L	p.P264L	NM_018647.3	NP_061117.2	0	0	0	1.903942	Q9NS68	TNR19_HUMAN		8	995	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	1	1	hg19	c.791C>T	CCDS9302.1	1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066955	0.36470	2.27E-4	0.0	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.76709	-1.04;1.54;-1.04;-1.04	5.71	-1.91	0.07641	5.71	-1.91	0.07641	.	1.309070	0.04834	N	0.439242	T	0.62429	0.2427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24920	0.003;0.114;0.114	B;B;B	0.15052	0.0;0.012;0.012	T	0.52215	-0.8605	10	0.56958	D	0.05	-4.2253	6.0373	0.19714	0.5379:0.2781:0.184:0.0	.	132;264;264	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	264;132;264;264	ENSP00000248484:P264L;ENSP00000385408:P132L;ENSP00000371693:P264L;ENSP00000371698:P264L	ENSP00000248484:P264L	P	+	2	0	0	TNFRSF19	23140173	23140173	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.097000	0.12307	-0.128000	0.14901	CCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-10.575180	1	0.170000	NM_018647			13	13		58	58	1		1	0		0	0	16	0		9.997073e-01	7.197491e-01	0	1	0	12	0	13	58
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T	rs201826458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000382263.3_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493																																						ENST00000382258.4	1.000000	0.800000	1	9.800000e-01	0.990000	0.983056	0.990000	1.000000																										0				22						c.(1255-1257)Cga>Tga		tumor necrosis factor receptor superfamily, member 19		C	,,stop/ARG,	0,4406		0,0,2203	42.0	38.0	39.0		,,1255,	-7.6	0.0	13		39	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,stop-gained,intron	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	,,419/424,	24243246	2,13004	2203	4300	6503	SO:0001587	stop_gained	55504	9	121412	38				g.chr13:24243246C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1255C>T	chr13.hg19:g.24243246C>T	ENSP00000371693:p.Arg419*	0					TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000382263.3_Intron	p.R419*	NM_018647.3	NP_061117.2	0	0	0	1.903942	Q9NS68	TNR19_HUMAN		9	1459	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Nonsense_Mutation	SNP	ENST00000382258.4	0	1	hg19	c.1255C>T	CCDS9302.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089515	0.55968	0.0	2.33E-4	ENSG00000127863	ENST00000382258	.	.	.	4.87	-7.61	0.01299	4.87	-7.61	0.01299	.	2.738200	0.02019	N	0.047642	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8221	11.7108	0.51625	0.0:0.631:0.1263:0.2426	.	.	.	.	X	419	.	.	R	+	1	2	2	TNFRSF19	23141246	23141246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.276000	0.02414	-0.302000	0.09304	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_018647			22	22		171	168	1		1	0		0	0	52	0		9.999990e-01	0	0	0	0	1	0	22	171
C1QTNF9B	387911	broad.mit.edu	37	13	24465977	24465977	+	Silent	SNP	C	C	T	rs200793733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382140.2	-	5	513	c.453G>A	c.(451-453)ccG>ccA	p.P151P	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382137.3_Silent_p.P151P|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000382172.3_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	151	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.P151P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642																																						ENST00000382140.2	1.000000	0.680000	1	8.300000e-01	0.990000	0.938660	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P151P(1)	large_intestine(1)	6						c.(451-453)ccG>ccA		C1q and tumor necrosis factor related protein 9B		C	,,	1,4389		0,1,2194	15.0	22.0	20.0		453,231,258	-1.8	0.0	13		20	4,8586		0,4,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF9B,C1QTNF9B-AS1	NM_001007537.1,NM_001014442.2,NM_001135816.1	,,	0,5,6485	TT,TC,CC		0.0466,0.0228,0.0385	,,	151/334,77/108,86/117	24465977	5,12975	2195	4295	6490	SO:0001819	synonymous_variant	387911	78	121244	43				g.chr13:24465977C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.453G>A	chr13.hg19:g.24465977C>T		0					C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000382172.3_5'Flank|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382137.3_Silent_p.P151P	p.P151P			0	0	0	1.903942	B2RNN3	C1T9B_HUMAN		5	513	-			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	1	1	hg19	c.453G>A	CCDS31947.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	1	0	1		2	2	2	0		0	0	50		50	58	1	2.060000	-2.774726	1	0.170000	NM_001007537			25	23		248	210	0		1	0		0	0	50	0		9.999991e-01	1.054813e-01	0	0	0	6	0	25	248
C1QTNF9B	387911	broad.mit.edu	37	13	24471055	24471055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	ENST00000382140.2	-	3	131	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R24M			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	24	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTGCCCTTGCCTGCAGGTGTC	0.542																																						ENST00000382140.2	1.000000	0.620000	1	7.400000e-01	0.870000	0.871283	0.870000	1.000000																										0				6						c.(70-72)aGg>aTg		C1q and tumor necrosis factor related protein 9B							106.0	101.0	103.0					13																	24471055		2202	4281	6483	SO:0001583	missense	387911	0	0					g.chr13:24471055C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.71G>T	chr13.hg19:g.24471055C>A	ENSP00000371575:p.Arg24Met	0					C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R24M	p.R24M			0	0	0	1.903942	B2RNN3	C1T9B_HUMAN		3	131	-			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	0	1	hg19	c.71G>T	CCDS31947.1	1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.610796	0.28712	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	3.99	3.14	0.36123	3.99	3.14	0.36123	.	0.224693	0.36854	N	0.002374	D	0.84070	0.5391	N	0.04203	-0.255	0.32070	N	0.594517	P;P	0.45827	0.467;0.867	B;P	0.44946	0.386;0.465	D	0.84365	0.0540	10	0.54805	T	0.06	.	6.4274	0.21778	0.0:0.6345:0.2554:0.11	.	24;24	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	M	24	ENSP00000371580:R24M;ENSP00000371572:R24M;ENSP00000371575:R24M;ENSP00000371489:R24M	ENSP00000371489:R24M	R	-	2	0	0	C1QTNF9B	23369055	23369055	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	1.586000	0.36611	0.683000	0.31428	0.298000	0.19748	AGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	0	0	1		2	2	2	0		0	0	85		85	123	1	2.060000	-20.000000	1	0.170000	NM_001007537			36	35		421	407	0		1	0		0	0	85	0		1	0	0	0	0	1	0	36	421
C1QTNF9B	387911	broad.mit.edu	37	13	24471132	24471132	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382140.2	-	0	54				C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382137.3_De_novo_Start_OutOfFrame			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B							collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCATGGTTCAGATGACAGACT	0.527																																						ENST00000382140.2	0.690000	0.240000	5.700000e-01	3.300000e-01	0.430000	0.454755	0.430000	0.430000																										0				6								C1q and tumor necrosis factor related protein 9B							101.0	93.0	96.0					13																	24471132		2203	4300	6503			387911	0	0					g.chr13:24471132G>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.-7C>A	chr13.hg19:g.24471132G>T		0					C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382137.3_De_novo_Start_OutOfFrame				0	0	0	1.903942	B2RNN3	C1T9B_HUMAN		0	54	-			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Translation_Start_Site	SNP	ENST00000382140.2	0	1	hg19		CCDS31947.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	0	0	0		2	2	2	0		0	0	67		67	71	1	2.060000	-13.672650	1	0.170000	NM_001007537			13	13		323	319	0		1			0	0	67	0		9.995309e-01	0	0	0	0	0	0	13	323
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428																																						ENST00000382071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(688-690)Gaa>Aaa		C1q and tumor necrosis factor related protein 9		G	LYS/GLU	0,4406		0,0,2203	181.0	160.0	167.0		688	3.1	0.0	13	dbSNP_134	167	3,8597		0,3,4297	no	missense	C1QTNF9	NM_178540.3	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	230/334	24895592	3,13003	2203	4300	6503	SO:0001583	missense	338872	36	121412	49				g.chr13:24895592G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.688G>A	chr13.hg19:g.24895592G>A	ENSP00000371503:p.Glu230Lys	0					C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9-AS1_ENST00000449656.1_RNA	p.E230K			0	0	0	1.903942	P0C862	C1T9A_HUMAN		4	773	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	1	1	hg19	c.688G>A	CCDS9306.1	1	.	.	.	.	.	.	.	.	.	.	N	3.525	-0.097032	0.07010	0.0	3.49E-4	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93906	-3.31;-3.31	3.96	3.1	0.35709	3.96	3.1	0.35709	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.90246	0.6950	L	0.60845	1.875	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.82639	-0.0358	10	0.42905	T	0.14	.	10.001	0.41929	0.1676:0.0:0.8324:0.0	.	230	P0C862	C1T9A_HUMAN	K	230	ENSP00000371503:E230K;ENSP00000333737:E230K	ENSP00000333737:E230K	E	+	1	0	0	C1QTNF9	23793592	23793592	0.001000	0.12720	0.026000	0.17262	0.238000	0.25445	0.911000	0.28584	2.180000	0.69256	0.430000	0.28490	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	0	0	1		2	2	2	0		0	0	124		124	154	1	2.060000	-4.534325	1	0.170000	NM_178540			118	112		553	530	1		1			0	0	124	0		1	0	0	0	0	0	0	118	553
PARP4	143	broad.mit.edu	37	13	25008755	25008755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1508					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)			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)		GACTTCCTTCGAGACTGCCTA	0.443																																						ENST00000381989.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				63						c.(4522-4524)ctC>ctT		poly (ADP-ribose) polymerase family, member 4							71.0	73.0	72.0					13																	25008755		2203	4300	6503	SO:0001819	synonymous_variant	143	0	0					g.chr13:25008755G>A	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.4524C>T	chr13.hg19:g.25008755G>A		0						p.L1508L	NM_006437.3	NP_006428.2	0	0	0	1.903942	Q9UKK3	PARP4_HUMAN		31	4629	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	0	1	hg19	c.4524C>T	CCDS9307.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	0	0	1		16	18	2	1		1	1	69		69	69	1	2.060000	-2.972463	1	0.170000	NM_006437			50	48		280	279	1		1	1		1	0	69	0		9.999978e-01	9.999996e-01	0	103	0	283	0	50	280
PARP4	143	broad.mit.edu	37	13	25068788	25068788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	222					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)			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)		TGTTTCTTCAGTTCTTCAATG	0.323																																						ENST00000381989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(664-666)Ctg>Ttg		poly (ADP-ribose) polymerase family, member 4							150.0	147.0	148.0					13																	25068788		2203	4300	6503	SO:0001819	synonymous_variant	143	0	0					g.chr13:25068788G>A	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.664C>T	chr13.hg19:g.25068788G>A		0						p.L222L	NM_006437.3	NP_006428.2	0	0	0	1.903942	Q9UKK3	PARP4_HUMAN		7	769	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	1	1	hg19	c.664C>T	CCDS9307.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_006437			66	63		209	205	1		1	1		0	0	44	0		1	1	0	66	0	127	0	66	209
PARP4	143	broad.mit.edu	37	13	25068831	25068831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068831G>A	ENST00000381989.3	-	7	726	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	207					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)			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)		CATCTTCAGAGGTTTTCTTTA	0.313																																						ENST00000381989.3	0.480000	0.100000	3.700000e-01	1.600000e-01	0.250000	0.271419	0.250000	0.240000																										0				63						c.(619-621)acC>acT		poly (ADP-ribose) polymerase family, member 4							126.0	124.0	125.0					13																	25068831		2202	4299	6501	SO:0001819	synonymous_variant	143	0	0					g.chr13:25068831G>A	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.621C>T	chr13.hg19:g.25068831G>A		0						p.T207T	NM_006437.3	NP_006428.2	0	0	0	1.903942	Q9UKK3	PARP4_HUMAN		7	726	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	0	1	hg19	c.621C>T	CCDS9307.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	0	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-3.032020	1	0.170000	NM_006437			6	5		274	266	0		1	1		0	0	38	0		9.617530e-01	9.174237e-01	0	9	0	197	0	6	274
ATP12A	479	broad.mit.edu	37	13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000381946.3	+	6	816	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	217					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)			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)		GATCCCTGCAGACATCAGGGT	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000381946.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				74						c.(649-651)Gac>Aac		ATPase, H+/K+ transporting, nongastric, alpha polypeptide							91.0	85.0	87.0					13																	25264578		2203	4300	6503	SO:0001583	missense	479	0	0					g.chr13:25264578G>A	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.649G>A	chr13.hg19:g.25264578G>A	ENSP00000371372:p.Asp217Asn	0					ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N	p.D217N			0	0	0	1.903942	P54707	AT12A_HUMAN		6	816	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	1	1	hg19	c.649G>A	CCDS31948.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024448	0.93518	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99042	-5.36;-5.36	4.73	4.73	0.59995	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99962	5.075	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.92	D	0.96736	0.9543	10	0.87932	D	0	.	15.2818	0.73790	0.0:0.0:1.0:0.0	.	217;217	P54707-2;P54707	.;AT12A_HUMAN	N	217	ENSP00000218548:D217N;ENSP00000371372:D217N	ENSP00000218548:D217N	D	+	1	0	0	ATP12A	24162578	24162578	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.371000	0.97162	2.445000	0.82738	0.643000	0.83706	GAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_001676			72	68		387	375	1		1			0	0	79	0		1	0	0	0	0	0	0	72	387
ATP12A	479	broad.mit.edu	37	13	25268581	25268581	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000381946.3	+	11	1544		c.e11-1		ATP12A_ENST00000218548.6_Splice_Site			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						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)			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)		TTGATTCCCAGAAAGCTGTGA	0.403											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000381946.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.e11-1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide							105.0	114.0	111.0					13																	25268581		2203	4300	6503	SO:0001630	splice_region_variant	479	0	0					g.chr13:25268581G>T	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.1378-1G>T	chr13.hg19:g.25268581G>T		0		OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000218548.6_Splice_Site				0	0	0	1.903942	P54707	AT12A_HUMAN		11	1544	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	1	1	hg19		CCDS31948.1	1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768356	0.69878	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.55	5.55	0.83447	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0052	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ATP12A	24166581	24166581	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.199000	0.95003	2.620000	0.88729	0.563000	0.77884	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_001676	Intron		112	110		622	606	1		1			0	0	111	0		1	0	0	0	0	0	0	112	622
ATP12A	479	broad.mit.edu	37	13	25281487	25281487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000381946.3	+	17	2576	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	ATP12A_ENST00000218548.6_Silent_p.C809C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	803					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)			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)		CCGAGCTGTGCCCCTTTCTGA	0.488																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000381946.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(2407-2409)tgC>tgT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide							200.0	192.0	195.0					13																	25281487		2203	4300	6503	SO:0001819	synonymous_variant	479	0	0					g.chr13:25281487C>T	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.2409C>T	chr13.hg19:g.25281487C>T		0					ATP12A_ENST00000218548.6_Silent_p.C809C	p.C803C			0	0	0	1.903942	P54707	AT12A_HUMAN		17	2576	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	1	1	hg19	c.2409C>T	CCDS31948.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	0		2	2	2	0		0	0	157		157	157	1	2.060000	-20.000000	1	0.170000	NM_001676			120	118		645	631	0		1			0	0	157	0		1	0	0	0	0	0	0	120	645
RNF17	56163	broad.mit.edu	37	13	25338442	25338442	+	Missense_Mutation	SNP	G	G	T	rs199928537	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25338442G>T	ENST00000255324.5	+	1	153	c.101G>T	c.(100-102)aGg>aTg	p.R34M	RNF17_ENST00000255325.6_Missense_Mutation_p.R34M|RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	34					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGTGCACCAGGTGTGGAAGG	0.642																																						ENST00000255324.5	0.760000	0.140000	5.700000e-01	2.400000e-01	0.380000	0.414393	0.380000	0.350000																										0				36						c.(100-102)aGg>aTg		ring finger protein 17							45.0	34.0	38.0					13																	25338442		2203	4300	6503	SO:0001583	missense	56163	0	0					g.chr13:25338442G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.101G>T	chr13.hg19:g.25338442G>T	ENSP00000255324:p.Arg34Met	0					RNF17_ENST00000255325.6_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.R34M	p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	0	0	0	1.903942	Q9BXT8	RNF17_HUMAN		1	153	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	0	1	hg19	c.101G>T	CCDS9308.2	0	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717879	0.48622	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85339	-1.97;-1.97;-1.97	4.4	2.67	0.31697	4.4	2.67	0.31697	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.577385	0.14554	N	0.312493	D	0.83069	0.5174	L	0.27053	0.805	0.21445	N	0.99968	P;P;D	0.67145	0.877;0.877;0.996	B;B;P	0.59288	0.436;0.436;0.855	T	0.71938	-0.4441	10	0.72032	D	0.01	.	6.4691	0.21997	0.2226:0.0:0.7774:0.0	.	34;34;34	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	M	34	ENSP00000255324:R34M;ENSP00000371346:R34M;ENSP00000255325:R34M	ENSP00000255324:R34M	R	+	2	0	0	RNF17	24236442	24236442	0.004000	0.15560	0.415000	0.26534	0.096000	0.18686	0.281000	0.18810	0.502000	0.28037	0.511000	0.50034	AGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-7.843325	1	0.170000	NM_031994			5	5		148	142	0		1	0		0	0	24	0		9.318225e-01	0	0	0	0	1	0	5	148
RNF17	56163	broad.mit.edu	37	13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	917					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATAATAAGGAATTGCCTGTG	0.294																																						ENST00000255324.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				36						c.(2749-2751)gAa>gCa		ring finger protein 17							53.0	55.0	54.0					13																	25418028		2202	4295	6497	SO:0001583	missense	56163	0	0					g.chr13:25418028A>C	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.2750A>C	chr13.hg19:g.25418028A>C	ENSP00000255324:p.Glu917Ala	0					RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	0	0	0	1.903942	Q9BXT8	RNF17_HUMAN		20	2802	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	1	1	hg19	c.2750A>C	CCDS9308.2	1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352430	0.61293	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09630	2.96;2.96;2.96	4.72	4.72	0.59763	4.72	4.72	0.59763	Maternal tudor protein (1);	0.323633	0.29172	N	0.012927	T	0.15869	0.0382	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.93;1.0	D;P;D	0.87578	0.998;0.636;0.995	T	0.17930	-1.0353	10	0.18710	T	0.47	-21.1896	12.0966	0.53758	1.0:0.0:0.0:0.0	.	917;917;917	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	917;917;776;241	ENSP00000255324:E917A;ENSP00000371346:E917A;ENSP00000388892:E241A	ENSP00000255324:E917A	E	+	2	0	0	RNF17	24316028	24316028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.209000	0.65208	2.113000	0.64589	0.482000	0.46254	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_031994			42	42		184	182	1		1			0	0	80	0		1	0	0	0	0	0	0	42	184
RNF17	56163	broad.mit.edu	37	13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1073					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACAACACAACATGGCCATT	0.343																																						ENST00000255324.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				36						c.(3217-3219)Aca>Cca		ring finger protein 17							101.0	98.0	99.0					13																	25425606		2203	4300	6503	SO:0001583	missense	56163	0	0					g.chr13:25425606A>C	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.3217A>C	chr13.hg19:g.25425606A>C	ENSP00000255324:p.Thr1073Pro	0					RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	0	0	0	1.903942	Q9BXT8	RNF17_HUMAN		24	3269	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	1	1	hg19	c.3217A>C	CCDS9308.2	1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236299	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.54;3.54;2.78;1.97	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.617926	0.14370	N	0.323835	T	0.24084	0.0583	L	0.54323	1.7	0.41967	D	0.990735	P;P;P;P	0.47191	0.627;0.694;0.891;0.883	B;B;P;B	0.48227	0.188;0.296;0.571;0.368	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.914	5.5124	0.16888	0.6527:0.177:0.0:0.1703	.	1069;125;1073;1073	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	P	1073;1073;932;397;125	ENSP00000255324:T1073P;ENSP00000371346:T1073P;ENSP00000388892:T397P;ENSP00000344776:T125P	ENSP00000255324:T1073P	T	+	1	0	0	RNF17	24323606	24323606	0.036000	0.19791	0.746000	0.31095	0.752000	0.42762	0.614000	0.24314	2.002000	0.58637	0.482000	0.46254	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_031994			47	46		208	203	1		1			0	0	47	0		1	0	0	0	0	0	0	47	208
CENPJ	55835	broad.mit.edu	37	13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A	rs556953003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1096					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)			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)		CATTGGAAGATAATTTTTCTT	0.274																																						ENST00000381884.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				47						c.(3286-3288)tAt>tTt		centromere protein J							93.0	106.0	101.0					13																	25463468		2202	4296	6498	SO:0001583	missense	55835	0	0					g.chr13:25463468T>A	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.3287A>T	chr13.hg19:g.25463468T>A	ENSP00000371308:p.Tyr1096Phe	0					CENPJ_ENST00000545981.1_Intron	p.Y1096F	NM_018451.4	NP_060921.3	0	0	0	1.903942	Q9HC77	CENPJ_HUMAN		11	3472	-		Lung SC(185;0.0225)|Breast(139;0.0602)	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	1	1	hg19	c.3287A>T	CCDS9310.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.995|8.995	0.978707|0.978707	0.18812|0.18812	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000445729	.|T	.|0.34275	.|1.37	4.82|4.82	1.03|1.03	0.20045|0.20045	4.82|4.82	1.03|1.03	0.20045|0.20045	.|.	.|0.589219	.|0.16585	.|N	.|0.208016	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.31931	.|0.302;0.347	.|B;B	.|0.32864	.|0.154;0.047	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.10111	.|T	.|0.7	.|.	3.9018|3.9018	0.09164|0.09164	0.0:0.1924:0.1845:0.623|0.0:0.1924:0.1845:0.623	.|.	.|177;1096	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	F|F	177|1096	.|ENSP00000371308:Y1096F	.|ENSP00000371308:Y1096F	L|Y	-|-	3|2	2|0	2|0	CENPJ|CENPJ	24361468|24361468	24361468|24361468	0.359000|0.359000	0.24955|0.24955	0.082000|0.082000	0.20525|0.20525	0.293000|0.293000	0.27360|0.27360	0.300000|0.300000	0.19156|0.19156	0.097000|0.097000	0.17492|0.17492	0.450000|0.450000	0.29827|0.29827	TTA|TAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_018451			80	78		464	451	1		1	1		0	0	88	0		1	5.924430e-01	0	2	0	11	0	80	464
PABPC3	5042	broad.mit.edu	37	13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423																																						ENST00000281589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(739-741)gCt>gAt		poly(A) binding protein, cytoplasmic 3							114.0	103.0	107.0					13																	25671076		2203	4300	6503	SO:0001583	missense	5042	0	0					g.chr13:25671076C>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.740C>A	chr13.hg19:g.25671076C>A	ENSP00000281589:p.Ala247Asp	0						p.A247D	NM_030979.2	NP_112241.2	0	0	0	1.903942	Q9H361	PABP3_HUMAN		1	777	+		Lung SC(185;0.0225)|Breast(139;0.0602)	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	1	1	hg19	c.740C>A	CCDS9311.1	1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106558	0.37145	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.46758	U	0.000270	T	0.70718	0.3256	H	0.99325	4.515	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	247	Q9H361	PABP3_HUMAN	D	247	ENSP00000281589:A247D	ENSP00000281589:A247D	A	+	2	0	0	PABPC3	24569076	24569076	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.305000	0.65750	0.759000	0.33084	0.313000	0.20887	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_030979			88	88		385	373	1		1	0		0	0	102	0		1	3.542680e-02	0	0	0	2	0	88	385
PABPC3	5042	broad.mit.edu	37	13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	430					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512													g|||	6	0.00119808	0.003	0.0029	5008	,	,		24008	0.0		0.0	False		,,,				2504	0.0					ENST00000281589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1288-1290)cGc>cAc		poly(A) binding protein, cytoplasmic 3		G	HIS/ARG	11,4395	19.1+/-41.9	0,11,2192	160.0	156.0	157.0		1289	0.7	0.7	13	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	29	0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923	benign	430/632	25671625	12,12994	2203	4300	6503	SO:0001583	missense	5042	30	121412	51				g.chr13:25671625G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1289G>A	chr13.hg19:g.25671625G>A	ENSP00000281589:p.Arg430His	0						p.R430H	NM_030979.2	NP_112241.2	0	0	0	1.903942	Q9H361	PABP3_HUMAN		1	1326	+		Lung SC(185;0.0225)|Breast(139;0.0602)	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	1	1	hg19	c.1289G>A	CCDS9311.1	1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.73	1.431968	0.25813	0.002497	1.16E-4	ENSG00000151846	ENST00000281589	T	0.30182	1.54	0.664	0.664	0.17890	0.664	0.664	0.17890	.	0.428123	0.18857	U	0.129224	T	0.20373	0.0490	M	0.71206	2.165	0.36017	D	0.838447	B	0.26195	0.144	B	0.21708	0.036	T	0.14952	-1.0454	10	0.34782	T	0.22	.	7.0697	0.25171	1.0E-4:0.0:0.9999:0.0	.	430	Q9H361	PABP3_HUMAN	H	430	ENSP00000281589:R430H	ENSP00000281589:R430H	R	+	2	0	0	PABPC3	24569625	24569625	1.000000	0.71417	0.701000	0.30321	0.012000	0.07955	3.832000	0.55783	0.593000	0.29745	0.313000	0.20887	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-7.169548	1	0.170000	NM_030979			126	123		709	697	1		1	0		0	0	173	0		1	6.226171e-02	0	0	0	3	0	126	709
PABPC3	5042	broad.mit.edu	37	13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	552	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453																																						ENST00000281589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1654-1656)aaG>aaT		poly(A) binding protein, cytoplasmic 3							110.0	101.0	104.0					13																	25671992		2203	4300	6503	SO:0001583	missense	5042	0	0					g.chr13:25671992G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1656G>T	chr13.hg19:g.25671992G>T	ENSP00000281589:p.Lys552Asn	0						p.K552N	NM_030979.2	NP_112241.2	0	0	0	1.903942	Q9H361	PABP3_HUMAN		1	1693	+		Lung SC(185;0.0225)|Breast(139;0.0602)	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	1	1	hg19	c.1656G>T	CCDS9311.1	1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249807	0.05867	.	.	ENSG00000151846	ENST00000281589	T	0.46819	0.86	0.875	0.875	0.19130	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.134314	0.30959	U	0.008532	T	0.24812	0.0602	N	0.11341	0.13	0.23831	N	0.996722	B	0.06786	0.001	B	0.14023	0.01	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	552	Q9H361	PABP3_HUMAN	N	552	ENSP00000281589:K552N	ENSP00000281589:K552N	K	+	3	2	2	PABPC3	24569992	24569992	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.190000	0.32126	0.759000	0.33084	0.313000	0.20887	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_030979			80	79		410	401	1		1			0	0	92	0		1	0	0	0	0	0	0	80	410
PABPC3	5042	broad.mit.edu	37	13	25672226	25672226	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	630					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393																																						ENST00000281589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1888-1890)acT>acG		poly(A) binding protein, cytoplasmic 3							85.0	92.0	89.0					13																	25672226		2202	4298	6500	SO:0001819	synonymous_variant	5042	0	0					g.chr13:25672226T>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1890T>G	chr13.hg19:g.25672226T>G		0						p.T630T	NM_030979.2	NP_112241.2	0	0	0	1.903942	Q9H361	PABP3_HUMAN		1	1927	+		Lung SC(185;0.0225)|Breast(139;0.0602)	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	1	1	hg19	c.1890T>G	CCDS9311.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_030979			119	119		482	478	1		1			0	0	139	0		1	0	0	0	0	0	0	119	482
MTMR6	9107	broad.mit.edu	37	13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	345	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398																																						ENST00000381801.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				36						c.(1033-1035)caG>caT		myotubularin related protein 6							107.0	96.0	100.0					13																	25831394		2203	4300	6503	SO:0001583	missense	9107	0	0					g.chr13:25831394C>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1035G>T	chr13.hg19:g.25831394C>A	ENSP00000371221:p.Gln345His	0					MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H|MTMR6_ENST00000482345.1_5'Flank	p.Q345H	NM_004685.3	NP_004676.3	0	0	0	1.903942	Q9Y217	MTMR6_HUMAN		9	1796	-		Lung SC(185;0.0225)|Breast(139;0.0351)	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	1	1	hg19	c.1035G>T	CCDS9313.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550865	0.65311	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91577	-2.87;-2.87	5.49	0.0117	0.14088	5.49	0.0117	0.14088	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94571	0.7771	10	0.87932	D	0	.	8.9037	0.35510	0.0:0.248:0.0:0.752	.	345;345	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	H	345	ENSP00000443161:Q345H;ENSP00000371221:Q345H	ENSP00000371221:Q345H	Q	-	3	2	2	MTMR6	24729394	24729394	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	0.789000	0.26886	0.035000	0.15519	-0.145000	0.13849	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.535965	1	0.170000	NM_004685			36	36		145	143	1		1	1		0	0	37	0		1	9.999935e-01	0	14	0	65	0	36	145
NUPL1	9818	broad.mit.edu	37	13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000381736.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.998138	0.990000	1.000000																										0				16						c.(1576-1578)Gcc>Acc		nucleoporin like 1							111.0	118.0	116.0					13																	25912815		2203	4300	6503	SO:0001583	missense	9818	0	0					g.chr13:25912815G>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1576G>A	chr13.hg19:g.25912815G>A	ENSP00000371155:p.Ala526Thr	0					NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T|NUPL1_ENST00000466694.1_3'UTR	p.A526T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	0	0	0	1.903942	Q9BVL2	NUPL1_HUMAN		15	1826	+		Lung SC(185;0.0225)|Breast(139;0.0351)	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	1	1	hg19	c.1576G>A	CCDS9314.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108680	0.77096	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.32753	1.44;1.51	5.65	3.92	0.45320	5.65	3.92	0.45320	.	0.306795	0.36778	N	0.002417	T	0.22936	0.0554	L	0.38531	1.155	0.37791	D	0.927377	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.08659	-1.0711	10	0.66056	D	0.02	-3.7116	7.1388	0.25543	0.1416:0.0:0.72:0.1384	.	514;526	A6NI12;Q9BVL2	.;NUPL1_HUMAN	T	526;503;514	ENSP00000371155:A526T;ENSP00000371137:A514T	ENSP00000318459:A503T	A	+	1	0	0	NUPL1	24810815	24810815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.325000	0.33724	0.754000	0.32968	0.558000	0.71614	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-19.840200	1	0.170000				57	57		442	427	1		1	1		0	0	104	0		1	9.988775e-01	0	10	0	70	0	57	442
RNF6	6049	broad.mit.edu	37	13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	501					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458																																						ENST00000381588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				23						c.(1501-1503)gaT>gaG		ring finger protein (C3H2C3 type) 6							74.0	70.0	71.0					13																	26788516		2203	4300	6503	SO:0001583	missense	6049	0	0					g.chr13:26788516A>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1503T>G	chr13.hg19:g.26788516A>C	ENSP00000371000:p.Asp501Glu	0					RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E	p.D501E	NM_005977.3	NP_005968.1	0	0	0	1.903942	Q9Y252	RNF6_HUMAN		5	2255	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	1	1	hg19	c.1503T>G	CCDS9316.1	1	.	.	.	.	.	.	.	.	.	.	A	1.620	-0.521653	0.04171	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15487	3.05;3.05;3.05;2.42	4.64	0.627	0.17675	4.64	0.627	0.17675	.	0.058299	0.64402	N	0.000002	T	0.03178	0.0093	N	0.01146	-0.985	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34551	-0.9824	10	0.05525	T	0.97	-10.5683	1.0214	0.01519	0.1494:0.1914:0.1526:0.5066	.	145;501	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	501;501;501;145	ENSP00000342121:D501E;ENSP00000371000:D501E;ENSP00000370982:D501E;ENSP00000382665:D145E	ENSP00000342121:D501E	D	-	3	2	2	RNF6	25686516	25686516	0.997000	0.39634	0.853000	0.33588	0.872000	0.50106	0.373000	0.20484	0.031000	0.15407	-0.399000	0.06403	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_005977			58	57		288	282	1		1	1		0	0	64	0		1	9.999998e-01	0	33	0	84	0	58	288
CDK8	1024	broad.mit.edu	37	13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	41	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)			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)		CCAAGAGGAAAGATGGGTGAG	0.667																																						ENST00000381527.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997470	0.990000	1.000000																										0				25						c.(121-123)aaA>aaC		cyclin-dependent kinase 8							148.0	137.0	141.0					13																	26828901		2203	4300	6503	SO:0001583	missense	1024	0	0					g.chr13:26828901A>C	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.123A>C	chr13.hg19:g.26828901A>C	ENSP00000370938:p.Lys41Asn	0					CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	p.K41N	NM_001260.1	NP_001251.1	0	0	0	1.903942	P49336	CDK8_HUMAN		1	626	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	0	1	hg19	c.123A>C	CCDS9317.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125293	0.77436	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.25	1.14	0.20703	5.25	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.72930	0.3522	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	P;D	0.66351	0.905;0.943	T	0.72117	-0.4387	10	0.87932	D	0	-8.8879	9.6921	0.40134	0.6975:0.0:0.3025:0.0	.	41;41	P49336-2;P49336	.;CDK8_HUMAN	N	41	ENSP00000370938:K41N;ENSP00000437696:K41N	ENSP00000370938:K41N	K	+	3	2	2	CDK8	25726901	25726901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	0.245000	0.21373	0.459000	0.35465	AAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-13.594610	1	0.170000				24	24		141	140	0		1	1		0	0	16	0		9.999998e-01	9.718057e-01	0	9	0	28	0	24	141
CDK8	1024	broad.mit.edu	37	13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	94	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)			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)		GGAAGGTGTGGCTTCTGTTTG	0.413																																						ENST00000381527.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(280-282)tgG>tgA		cyclin-dependent kinase 8							221.0	198.0	205.0					13																	26923286		2203	4300	6503	SO:0001587	stop_gained	1024	0	0					g.chr13:26923286G>A	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.282G>A	chr13.hg19:g.26923286G>A	ENSP00000370938:p.Trp94*	0					CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	p.W94*	NM_001260.1	NP_001251.1	0	0	0	1.903942	P49336	CDK8_HUMAN		3	785	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	Q5VUF3|Q6ISB5	Nonsense_Mutation	SNP	ENST00000381527.3	0	1	hg19	c.282G>A	CCDS9317.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.441608	0.96187	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	.	.	.	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.059337	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.1766	18.2519	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000370938:W94X	W	+	3	0	0	CDK8	25821286	25821286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	TGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	0	0	0		2	2	2	0		0	0	177		177	177	1	2.060000	-20.000000	1	0.170000				120	118		618	603	1		1	1		0	0	177	0		1	9.981827e-01	0	11	0	39	0	120	618
CDK8	1024	broad.mit.edu	37	13	26923313	26923313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	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)			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)		CTGAACATGACCTCTGGGTAA	0.413																																						ENST00000381527.3	0.670000	0.320000	5.800000e-01	3.900000e-01	0.470000	0.491076	0.470000	0.480000																										0				25						c.(307-309)gaC>gaT		cyclin-dependent kinase 8							186.0	164.0	172.0					13																	26923313		2203	4300	6503	SO:0001819	synonymous_variant	1024	0	0					g.chr13:26923313C>T	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.309C>T	chr13.hg19:g.26923313C>T		0					CDK8_ENST00000536792.1_Silent_p.D103D	p.D103D	NM_001260.1	NP_001251.1	0	0	0	1.903942	P49336	CDK8_HUMAN		3	812	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	1	1	hg19	c.309C>T	CCDS9317.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	0	0	0		2	2	2	0		0	0	166		166	166	1	2.060000	-20.000000	1	0.170000				27	26		603	592	0		1	0		0	0	166	0		9.999999e-01	6.122931e-01	0	1	0	46	0	27	603
WASF3	10810	broad.mit.edu	37	13	27255212	27255212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000335327.5	+	8	916	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_ENST00000361042.4_Silent_p.T243T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	246					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498																																						ENST00000335327.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(736-738)acG>acA		WAS protein family, member 3							87.0	97.0	94.0					13																	27255212		2203	4300	6503	SO:0001819	synonymous_variant	10810	5	121412	40				g.chr13:27255212G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.738G>A	chr13.hg19:g.27255212G>A		0					WASF3_ENST00000361042.4_Silent_p.T243T	p.T246T	NM_006646.5	NP_006637.2	0	0	0	1.903942	Q9UPY6	WASF3_HUMAN		8	916	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	1	1	hg19	c.738G>A	CCDS9318.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-2.501730	1	0.170000				140	140		625	608	1		1	0		0	0	138	0		1	9.486549e-01	0	1	0	23	0	140	625
GPR12	2835	broad.mit.edu	37	13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000381436.2	-	1	875	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000405846.3_Missense_Mutation_p.R138H			P47775	GPR12_HUMAN	G protein-coupled receptor 12	138					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552																																						ENST00000381436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(412-414)cGc>cAc		G protein-coupled receptor 12							106.0	91.0	96.0					13																	27333552		2203	4300	6503	SO:0001583	missense	2835	0	0					g.chr13:27333552C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.413G>A	chr13.hg19:g.27333552C>T	ENSP00000370844:p.Arg138His	0					GPR12_ENST00000405846.3_Missense_Mutation_p.R138H	p.R138H			0	0	0	1.903942	P47775	GPR12_HUMAN		1	875	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	1	1	hg19	c.413G>A	CCDS9319.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992314	0.93167	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	D;D	0.97161	-4.27;-4.27	5.36	5.36	0.76844	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	138	P47775	GPR12_HUMAN	H	138	ENSP00000384932:R138H;ENSP00000370844:R138H	ENSP00000370844:R138H	R	-	2	0	0	GPR12	26231552	26231552	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.367650	1	0.170000				67	67		279	271	1		1			0	0	78	0		1	0	0	0	0	0	0	67	279
GPR12	2835	broad.mit.edu	37	13	27333952	27333952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000381436.2	-	1	475	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	5					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478																																						ENST00000381436.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(13-15)Ctg>Ttg		G protein-coupled receptor 12							31.0	36.0	34.0					13																	27333952		2200	4299	6499	SO:0001819	synonymous_variant	2835	0	0					g.chr13:27333952G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.13C>T	chr13.hg19:g.27333952G>A		0					GPR12_ENST00000405846.3_Silent_p.L5L	p.L5L			0	0	0	1.903942	P47775	GPR12_HUMAN		1	475	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	Q5T8P3	Silent	SNP	ENST00000381436.2	1	1	hg19	c.13C>T	CCDS9319.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				58	58		272	266	1		1			0	0	56	0		1	0	0	0	0	0	0	58	272
USP12	219333	broad.mit.edu	37	13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	365	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		GAGACTGATAGAAAAGGATGT	0.398																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6	1.000000	0.780000	1	9.200000e-01	0.990000	0.972113	0.990000	1.000000																										0				17						c.(1093-1095)ttC>ttA		ubiquitin specific peptidase 12							111.0	105.0	107.0					13																	27643438		2203	4300	6503	SO:0001583	missense	219333	0	0					g.chr13:27643438G>T	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.1095C>A	chr13.hg19:g.27643438G>T	ENSP00000282344:p.Phe365Leu	0						p.F365L	NM_182488.3	NP_872294.2	0	0	0	1.903942	O75317	UBP12_HUMAN		9	1351	-		Lung SC(185;0.0161)	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	1	1	hg19	c.1095C>A	CCDS31952.1	1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844601	0.71488	.	.	ENSG00000152484	ENST00000282344	T	0.39056	1.1	5.36	5.36	0.76844	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69614	-0.5098	10	0.72032	D	0.01	-14.351	19.4565	0.94892	0.0:0.0:1.0:0.0	.	365	O75317	UBP12_HUMAN	L	365	ENSP00000282344:F365L	ENSP00000282344:F365L	F	-	3	2	2	USP12	26541438	26541438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.682000	0.91365	0.650000	0.86243	TTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.142702	1	0.170000	NM_182488			39	38		362	359	1		1	1		0	0	98	0		1	9.915942e-01	0	12	0	59	0	39	362
USP12	219333	broad.mit.edu	37	13	27645271	27645271	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	316	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)		CAATATAATGGCCTCGATTGG	0.274																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6	1.000000	0.570000	1	7.300000e-01	0.910000	0.881113	0.910000	1.000000																										0				17						c.(946-948)ggC>ggT		ubiquitin specific peptidase 12							67.0	66.0	66.0					13																	27645271		2203	4297	6500	SO:0001819	synonymous_variant	219333	0	0					g.chr13:27645271G>A	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.948C>T	chr13.hg19:g.27645271G>A		0						p.G316G	NM_182488.3	NP_872294.2	0	0	0	1.903942	O75317	UBP12_HUMAN		8	1204	-		Lung SC(185;0.0161)	A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	1	1	hg19	c.948C>T	CCDS31952.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-19.999980	1	0.170000	NM_182488			19	19		212	203	0		1	1		0	0	51	0		9.999891e-01	9.619717e-01	0	10	0	53	0	19	212
RPL21	6144	broad.mit.edu	37	13	27829420	27829420	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y|SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000319826.4_Silent_p.Y57Y|SNORA27_ENST00000384323.1_RNA	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	57					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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378																																						ENST00000311549.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(169-171)taC>taT		ribosomal protein L21							83.0	86.0	85.0					13																	27829420		2203	4298	6501	SO:0001819	synonymous_variant	6144	0	0					g.chr13:27829420C>T	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"""L ribosomal proteins"""	10313	protein-coding gene	gene with protein product	"""60S ribosomal protein L21"""	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.171C>T	chr13.hg19:g.27829420C>T		0					SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y|SNORA27_ENST00000384323.1_RNA	p.Y57Y	NM_000982.3	NP_000973.2	0	0	0	1.903942	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	4	460	+		Lung SC(185;0.0156)	Q16699	Silent	SNP	ENST00000311549.6	1	1	hg19	c.171C>T	CCDS9320.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_000982			66	66		256	253	1		1	1		0	0	57	0		1	1	0	77	0	581	0	66	256
PDX1	3651	broad.mit.edu	37	13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					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)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687																																						ENST00000381033.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999776	0.990000	1.000000																										0										c.(421-423)gCg>gTg		pancreatic and duodenal homeobox 1							18.0	20.0	20.0					13																	28498408		2199	4298	6497	SO:0001583	missense	3651	0	0					g.chr13:28498408C>T	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.422C>T	chr13.hg19:g.28498408C>T	ENSP00000370421:p.Ala141Val	0					PDX1-AS1_ENST00000499662.2_RNA	p.A141V	NM_000209.3	NP_000200.1	0	0	0	1.903942	O00330	ODPX_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	2	541	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	1	1	hg19	c.422C>T	CCDS9327.1	1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795312	0.16327	.	.	ENSG00000139515	ENST00000381033	D	0.95622	-3.76	5.01	2.85	0.33270	5.01	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);	0.225794	0.45867	N	0.000321	T	0.78991	0.4371	N	0.01048	-1.04	0.38873	D	0.956732	B	0.10296	0.003	B	0.06405	0.002	T	0.74028	-0.3796	10	0.02654	T	1	.	4.2161	0.10535	0.0:0.5026:0.0:0.4974	.	141	P52945	PDX1_HUMAN	V	141	ENSP00000370421:A141V	ENSP00000370421:A141V	A	+	2	0	0	PDX1	27396408	27396408	0.756000	0.28383	0.178000	0.23040	0.490000	0.33462	1.051000	0.30417	1.232000	0.43678	0.561000	0.74099	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_000209			26	26		104	101	0		1	1		0	0	21	0		1	9.444260e-01	0	13	0	9	0	26	104
FLT3	2322	broad.mit.edu	37	13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000241453.7	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000380982.4_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	678	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)			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)	CACGCCCCCAGCAGGTTCACA	0.473			"""Mis, O"""		"""AML, ALL"""																																	ENST00000241453.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000				Dom	yes			Dom	yes		13	13q12	13q12	2322	Mis, O	fms-related tyrosine kinase 3				L	L			AML, ALL		0				12390						c.(2032-2034)Ctg>Atg		fms-related tyrosine kinase 3	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)						97.0	80.0	85.0					13																	28602336		2203	4300	6503	SO:0001583	missense	2322	0	0					g.chr13:28602336G>T	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.2032C>A	chr13.hg19:g.28602336G>T	ENSP00000241453:p.Leu678Met	0					FLT3_ENST00000380982.4_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M	p.L678M	NM_004119.2	NP_004110.2	0	0	0	1.903942	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	16	2113	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	1	1	hg19	c.2032C>A	CCDS31953.1	1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141517	0.57044	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.90563	-2.69;-2.69;-2.69	5.71	3.66	0.41972	5.71	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.92485	0.7614	L	0.45285	1.41	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92867	0.6311	10	0.87932	D	0	.	12.2545	0.54617	0.2053:0.0:0.7947:0.0	.	678;678	P36888-2;P36888	.;FLT3_HUMAN	M	678	ENSP00000241453:L678M;ENSP00000370369:L678M;ENSP00000438139:L678M	ENSP00000241453:L678M	L	-	1	2	2	FLT3	27500336	27500336	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.265000	0.43311	1.410000	0.46936	0.555000	0.69702	CTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	1	0	1		2	2	2	0		0	0	37		37	38	1	2.060000	-20.000000	1	0.170000				44	44		163	161	1		1	0		0	0	37	0		1	5.373822e-01	0	0	0	8	0	44	163
FLT3	2322	broad.mit.edu	37	13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000241453.7	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000380982.4_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	532					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)			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)	GTTGTACCTGGAGAGTTTAAA	0.438			"""Mis, O"""		"""AML, ALL"""																																	ENST00000241453.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		13	13q12	13q12	2322	Mis, O	fms-related tyrosine kinase 3				L	L			AML, ALL		0				12390						c.(1594-1596)Cca>Tca		fms-related tyrosine kinase 3	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)						147.0	135.0	139.0					13																	28609635		2203	4300	6503	SO:0001583	missense	2322	0	0					g.chr13:28609635G>A	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.1594C>T	chr13.hg19:g.28609635G>A	ENSP00000241453:p.Pro532Ser	0					FLT3_ENST00000380982.4_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S	p.P532S	NM_004119.2	NP_004110.2	0	0	0	1.903942	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	12	1675	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	1	1	hg19	c.1594C>T	CCDS31953.1	1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528006	0.13127	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.83	5.18	0.272	0.15645	5.18	0.272	0.15645	.	0.509728	0.19645	N	0.109344	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30851	-0.9964	10	0.05620	T	0.96	.	0.5181	0.00607	0.3086:0.1247:0.3114:0.2554	.	532;532	P36888-2;P36888	.;FLT3_HUMAN	S	532	ENSP00000241453:P532S;ENSP00000370369:P532S;ENSP00000438139:P532S	ENSP00000241453:P532S	P	-	1	0	0	FLT3	27507635	27507635	0.000000	0.05858	0.041000	0.18516	0.370000	0.29829	-0.630000	0.05502	-0.207000	0.10187	0.650000	0.86243	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.500919	1	0.170000				75	74		296	293	1		1	0		0	0	80	0		1	5.060073e-01	0	1	0	7	0	75	296
PAN3	255967	broad.mit.edu	37	13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000380958.3	+	13	2101	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PAN3_ENST00000399613.1_Missense_Mutation_p.G450V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V	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)		CTGATAACTGGCAAAACAAGG	0.363																																						ENST00000380958.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				24						c.(1948-1950)gGc>gTc		PAN3 poly(A) specific ribonuclease subunit							161.0	152.0	155.0					13																	28844994		2203	4300	6503	SO:0001583	missense	255967	0	0					g.chr13:28844994G>T	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.1949G>T	chr13.hg19:g.28844994G>T	ENSP00000370345:p.Gly650Val	0					PAN3_ENST00000282391.5_Missense_Mutation_p.G338V|PAN3_ENST00000399613.1_Missense_Mutation_p.G450V	p.G650V	NM_175854.7	NP_787050.6	0	0	0	1.903942			Colorectal(13;0.000334)	13	2101	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)		Missense_Mutation	SNP	ENST00000380958.3	1	1	hg19	c.1949G>T	CCDS9329.2	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809788	0.90707	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;0.98;0.98	5.42	5.42	0.78866	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043637	0.85682	D	0.000000	T	0.64897	0.2640	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.63880	0.975;0.968;0.904;0.993	P;P;P;P	0.61533	0.848;0.732;0.463;0.89	T	0.65681	-0.6109	10	0.49607	T	0.09	-7.5491	19.5822	0.95471	0.0:0.0:1.0:0.0	.	650;650;338;596	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	V	650;450;338	ENSP00000370345:G650V;ENSP00000382522:G450V;ENSP00000282391:G338V	ENSP00000282391:G338V	G	+	2	0	0	PAN3	27742994	27742994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.704000	0.92352	0.563000	0.77884	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_175854			86	85		602	594	1		1	1		0	0	151	0		1	9.906011e-01	0	8	0	44	0	86	602
FLT1	2321	broad.mit.edu	37	13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	908	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)			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)	GTATTCAACAATCACCATCAG	0.458																																						ENST00000282397.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999743	0.990000	1.000000																										0				115						c.(2722-2724)aTt>aGt		fms-related tyrosine kinase 1	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	75.0	77.0					13																	28901672		2203	4300	6503	SO:0001583	missense	2321	0	0					g.chr13:28901672A>C	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.2723T>G	chr13.hg19:g.28901672A>C	ENSP00000282397:p.Ile908Ser	0					FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	p.I908S	NM_002019.4	NP_002010.2	0	0	0	1.903942	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	20	2974	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	1	1	hg19	c.2723T>G	CCDS9330.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515385	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.86432	-2.12;-2.12	5.8	5.8	0.92144	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	0.94483	0.8224	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95345	0.8441	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	908	P17948	VGFR1_HUMAN	S	908;126	ENSP00000282397:I908S;ENSP00000443311:I126S	ENSP00000282397:I908S	I	-	2	0	0	FLT1	27799672	27799672	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	ATT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				32	31		161	156	1		1	0		0	0	43	0		1	9.929136e-01	0	0	0	42	0	32	161
FLT1	2321	broad.mit.edu	37	13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	605	Ig-like C2-type 6.				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)			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)	TTTTTGCTTGCTAATACTGTA	0.418																																						ENST00000282397.4	0.610000	0.290000	5.300000e-01	3.600000e-01	0.440000	0.452019	0.440000	0.440000																										0				115						c.(1813-1815)aGc>aAc		fms-related tyrosine kinase 1	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						302.0	254.0	270.0					13																	28964088		2203	4300	6503	SO:0001583	missense	2321	0	0					g.chr13:28964088C>T	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.1814G>A	chr13.hg19:g.28964088C>T	ENSP00000282397:p.Ser605Asn	0					FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	p.S605N	NM_002019.4	NP_002010.2	0	0	0	1.903942	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	13	2065	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	1	1	hg19	c.1814G>A	CCDS9330.1	0	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.75938	-0.98;-0.42	6.06	6.06	0.98353	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545972	0.21229	N	0.078019	T	0.69682	0.3138	L	0.46157	1.445	0.80722	D	1	B;B;P	0.37594	0.077;0.029;0.601	B;B;B	0.36719	0.046;0.046;0.231	T	0.65582	-0.6133	10	0.22706	T	0.39	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	605;605;605	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	605	ENSP00000282397:S605N;ENSP00000437631:S605N	ENSP00000282397:S605N	S	-	2	0	0	FLT1	27862088	27862088	0.982000	0.34865	0.953000	0.39169	0.981000	0.71138	1.841000	0.39240	2.880000	0.98712	0.650000	0.86243	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1	0	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-4.170379	1	0.170000				28	28		682	667	0		1	0		0	0	159	0		1	9.754102e-01	0	0	0	146	0	28	682
SLC46A3	283537	broad.mit.edu	37	13	29287142	29287142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000266943.6	-	3	1104	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		AAAGCATGTAAGTTCGGTAAA	0.333																																						ENST00000266943.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										0				15						c.(733-735)acT>acC		solute carrier family 46, member 3							42.0	42.0	42.0					13																	29287142		2203	4298	6501	SO:0001819	synonymous_variant	283537	0	0					g.chr13:29287142A>G		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.735T>C	chr13.hg19:g.29287142A>G		0					SLC46A3_ENST00000380814.4_Silent_p.T245T	p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	0	0	0	1.903942	Q7Z3Q1	S46A3_HUMAN		3	1104	-		Lung SC(185;0.0367)	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	1	1	hg19	c.735T>C	CCDS9332.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_181785			31	31		132	132	1		1	1		0	0	43	0		1	1	0	15	0	152	0	31	132
SLC46A3	283537	broad.mit.edu	37	13	29287292	29287292	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000266943.6	-	3	954	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000380814.4_Silent_p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	195					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		ACCACTCAAAACCTAGCTCTC	0.348																																						ENST00000266943.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(583-585)ggT>ggC		solute carrier family 46, member 3							54.0	52.0	52.0					13																	29287292		2203	4300	6503	SO:0001819	synonymous_variant	283537	0	0					g.chr13:29287292A>G		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.585T>C	chr13.hg19:g.29287292A>G		0					SLC46A3_ENST00000380814.4_Silent_p.G195G	p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	0	0	0	1.903942	Q7Z3Q1	S46A3_HUMAN		3	954	-		Lung SC(185;0.0367)	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	1	1	hg19	c.585T>C	CCDS9332.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_181785			63	60		239	235	1		1	1		0	0	71	0		1	1	0	10	0	182	0	63	239
MTUS2	23281	broad.mit.edu	37	13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	219						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592																																						ENST00000431530.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(685-687)Aca>Gca		microtubule associated tumor suppressor candidate 2							40.0	42.0	41.0					13																	29599490		2198	4300	6498	SO:0001583	missense	23281	0	0					g.chr13:29599490A>G	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.685A>G	chr13.hg19:g.29599490A>G	ENSP00000392057:p.Thr229Ala	0						p.T229A	NM_001033602.2	NP_001028774.2	0	0	0	1.903942	Q5JR59	MTUS2_HUMAN		1	743	+			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	1	1	hg19	c.685A>G	CCDS45022.1	1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.392520	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.14893	2.47	5.49	1.63	0.23807	5.49	1.63	0.23807	.	0.382752	0.22018	N	0.065762	T	0.11367	0.0277	L	0.47716	1.5	0.09310	N	1	P	0.42296	0.775	B	0.38156	0.266	T	0.15723	-1.0427	9	.	.	.	.	2.0027	0.03471	0.5035:0.1441:0.0754:0.2771	.	219	Q5JR59	MTUS2_HUMAN	A	229	ENSP00000392057:T229A	.	T	+	1	0	0	MTUS2	28497490	28497490	0.581000	0.26741	0.002000	0.10522	0.369000	0.29798	1.212000	0.32394	0.332000	0.23536	0.459000	0.35465	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	XM_166270			56	55		191	190	1		1			0	0	51	0		1	0	0	0	0	0	0	56	191
SLC7A1	6541	broad.mit.edu	37	13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	213					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)			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)	GTTTTTAACCGATCCTTTCAC	0.448																																						ENST00000380752.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(637-639)tCg>tTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						165.0	167.0	166.0					13																	30104741		2203	4300	6503	SO:0001583	missense	6541	0	0					g.chr13:30104741G>A	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.638C>T	chr13.hg19:g.30104741G>A	ENSP00000370128:p.Ser213Leu	0						p.S213L	NM_003045.4	NP_003036.1	0	0	0	1.903942	P30825	CTR1_HUMAN		5	1024	-		Lung SC(185;0.0257)|Breast(139;0.238)	Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	1	1	hg19	c.638C>T	CCDS9333.1	1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905349	0.52333	.	.	ENSG00000139514	ENST00000380752	D	0.90004	-2.6	4.73	2.9	0.33743	4.73	2.9	0.33743	Amino acid permease domain (1);	0.334522	0.35646	N	0.003073	D	0.89653	0.6777	L	0.61218	1.895	0.09310	N	0.999999	P	0.48230	0.907	P	0.49276	0.605	D	0.83567	0.0110	10	0.72032	D	0.01	.	14.0371	0.64651	0.0:0.2884:0.7116:0.0	.	213	P30825	CTR1_HUMAN	L	213	ENSP00000370128:S213L	ENSP00000370128:S213L	S	-	2	0	0	SLC7A1	29002741	29002741	1.000000	0.71417	0.037000	0.18230	0.596000	0.36781	4.254000	0.58798	0.651000	0.30788	0.655000	0.94253	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	1	0	1		2	2	2	0		0	0	135		135	132	1	2.060000	-20.000000	1	0.170000	NM_003045			124	124		576	569	1		1	1		0	0	135	0		1	1	0	60	0	92	0	124	576
UBL3	5412	broad.mit.edu	37	13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	112						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)		TTACACAACAATTACTCTCTC	0.433																																						ENST00000380680.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				4						c.(334-336)aaT>aaG		ubiquitin-like 3							127.0	104.0	112.0					13																	30341410		2203	4300	6503	SO:0001583	missense	5412	0	0					g.chr13:30341410A>C	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.336T>G	chr13.hg19:g.30341410A>C	ENSP00000370055:p.Asn112Lys	0						p.N112K	NM_007106.3	NP_009037.1	0	0	0	1.903942	O95164	UBL3_HUMAN		5	1481	-		Lung SC(185;0.0281)	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	1	1	hg19	c.336T>G	CCDS9334.1	1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089414	0.55968	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.6	-6.0	0.02206	5.6	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	N	0.08118	0	0.53688	D	0.999978	B	0.15141	0.012	B	0.14578	0.011	T	0.02533	-1.1145	9	0.27785	T	0.31	-9.8642	13.6483	0.62294	0.4808:0.0:0.5192:0.0	.	112	O95164	UBL3_HUMAN	K	112	.	ENSP00000370055:N112K	N	-	3	2	2	UBL3	29239410	29239410	1.000000	0.71417	0.503000	0.27626	0.995000	0.86356	0.770000	0.26618	-1.518000	0.01778	0.455000	0.32223	AAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_007106			48	48		266	262	1		1	1		0	0	72	0		1	1	0	69	0	263	0	48	266
KATNAL1	84056	broad.mit.edu	37	13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383																																						ENST00000380615.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				19						c.(577-579)Gcc>Acc		katanin p60 subunit A-like 1							182.0	162.0	169.0					13																	30815139		2203	4300	6503	SO:0001583	missense	84056	0	0					g.chr13:30815139C>T	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.577G>A	chr13.hg19:g.30815139C>T	ENSP00000369989:p.Ala193Thr	0					KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	p.A193T	NM_032116.4	NP_115492.1	0	0	0	1.903942				5	744	-		Lung SC(185;0.0257)		Missense_Mutation	SNP	ENST00000380615.3	1	1	hg19	c.577G>A	CCDS31956.1	1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403286	0.11754	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94280	-3.39;-3.39	5.56	4.71	0.59529	5.56	4.71	0.59529	.	0.244503	0.40385	N	0.001120	D	0.88171	0.6365	L	0.28740	0.885	0.50171	D	0.999854	B	0.16396	0.017	B	0.15484	0.013	T	0.83204	-0.0077	10	0.19590	T	0.45	-18.8873	14.5621	0.68148	0.0:0.9297:0.0:0.0703	.	193	Q9BW62	KATL1_HUMAN	T	193	ENSP00000369989:A193T;ENSP00000369991:A193T	ENSP00000369989:A193T	A	-	1	0	0	KATNAL1	29713139	29713139	0.851000	0.29673	0.665000	0.29768	0.996000	0.88848	1.757000	0.38400	1.356000	0.45884	0.650000	0.86243	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_032116			65	65		398	395	1		1	0		0	0	87	0		1	9.339173e-01	0	1	0	29	0	65	398
USPL1	10208	broad.mit.edu	37	13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	286	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)			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)		AGTCAATTGAGTGGTGTTAAA	0.388																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				34						c.(856-858)aGt>aTt		ubiquitin specific peptidase like 1							52.0	54.0	53.0					13																	31205600		2203	4300	6503	SO:0001583	missense	10208	0	0					g.chr13:31205600G>T	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.857G>T	chr13.hg19:g.31205600G>T	ENSP00000255304:p.Ser286Ile	0					USPL1_ENST00000465952.1_3'UTR	p.S286I	NM_005800.4	NP_005791.3	0	0	0	1.903942	Q5W0Q7	USPL1_HUMAN		4	1199	+		Lung SC(185;0.0257)|Breast(139;0.203)	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	1	1	hg19	c.857G>T	CCDS9336.1	1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338550	0.11069	.	.	ENSG00000132952	ENST00000255304	T	0.45668	0.89	5.94	2.09	0.27110	5.94	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.861583	0.10458	N	0.672337	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	P	0.38420	0.63	B	0.37198	0.243	T	0.12066	-1.0562	10	0.66056	D	0.02	-7.2908	4.059	0.09829	0.4979:0.1821:0.3201:0.0	.	286	Q5W0Q7	USPL1_HUMAN	I	286	ENSP00000255304:S286I	ENSP00000255304:S286I	S	+	2	0	0	USPL1	30103600	30103600	0.017000	0.18338	0.007000	0.13788	0.016000	0.09150	0.586000	0.23894	0.517000	0.28361	-0.367000	0.07326	AGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_005800			60	58		358	354	0		1	1		0	0	60	0		1	8.429685e-01	0	5	0	17	0	60	358
USPL1	10208	broad.mit.edu	37	13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	729					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)			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)		AAGAAAAAAGAAACTACAGCA	0.363																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2185-2187)gAa>gCa		ubiquitin specific peptidase like 1							60.0	63.0	62.0					13																	31232400		2203	4300	6503	SO:0001583	missense	10208	0	0					g.chr13:31232400A>C	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.2186A>C	chr13.hg19:g.31232400A>C	ENSP00000255304:p.Glu729Ala	0						p.E729A	NM_005800.4	NP_005791.3	0	0	0	1.903942	Q5W0Q7	USPL1_HUMAN		9	2528	+		Lung SC(185;0.0257)|Breast(139;0.203)	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	1	1	hg19	c.2186A>C	CCDS9336.1	1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513919	0.27123	.	.	ENSG00000132952	ENST00000255304	T	0.15603	2.41	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.683044	0.15114	N	0.279779	T	0.25717	0.0626	L	0.60455	1.87	0.09310	N	1	P	0.49559	0.925	P	0.47075	0.536	T	0.10222	-1.0639	10	0.41790	T	0.15	-18.7669	13.9512	0.64118	1.0:0.0:0.0:0.0	.	729	Q5W0Q7	USPL1_HUMAN	A	729	ENSP00000255304:E729A	ENSP00000255304:E729A	E	+	2	0	0	USPL1	30130400	30130400	0.910000	0.30920	0.140000	0.22221	0.121000	0.20230	5.665000	0.68052	2.040000	0.60383	0.533000	0.62120	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_005800			95	94		364	360	1		1	1		0	0	89	0		1	9.995586e-01	0	12	0	34	0	95	364
USPL1	10208	broad.mit.edu	37	13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	840					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)			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)		GGCACAGCTGCCCACCCACAT	0.507																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				34						c.(2518-2520)gCc>gTc		ubiquitin specific peptidase like 1							79.0	77.0	78.0					13																	31232733		2203	4300	6503	SO:0001583	missense	10208	0	0					g.chr13:31232733C>T	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.2519C>T	chr13.hg19:g.31232733C>T	ENSP00000255304:p.Ala840Val	0						p.A840V	NM_005800.4	NP_005791.3	0	0	0	1.903942	Q5W0Q7	USPL1_HUMAN		9	2861	+		Lung SC(185;0.0257)|Breast(139;0.203)	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	1	1	hg19	c.2519C>T	CCDS9336.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771724	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.15017	2.46	5.52	2.13	0.27403	5.52	2.13	0.27403	.	1.346150	0.04664	N	0.409519	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.37144	0.242	T	0.23726	-1.0180	10	0.40728	T	0.16	-1.4166	3.6569	0.08223	0.2388:0.4877:0.0:0.2735	.	840	Q5W0Q7	USPL1_HUMAN	V	840	ENSP00000255304:A840V	ENSP00000255304:A840V	A	+	2	0	0	USPL1	30130733	30130733	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.441000	0.06879	0.557000	0.29117	0.561000	0.74099	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_005800			67	66		368	357	1		1	1		0	0	92	0		1	9.996743e-01	0	7	0	60	0	67	368
HSPH1	10808	broad.mit.edu	37	13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000320027.5	-	8	1331	c.987T>A	c.(985-987)caT>caA	p.H329Q	HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	329					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373																																						ENST00000320027.5	0.730000	0.320000	6.300000e-01	4.100000e-01	0.510000	0.523908	0.510000	0.500000																										0				27						c.(985-987)caT>caA		heat shock 105kDa/110kDa protein 1							137.0	134.0	135.0					13																	31724241		2203	4300	6503	SO:0001583	missense	10808	0	0					g.chr13:31724241A>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.987T>A	chr13.hg19:g.31724241A>T	ENSP00000318687:p.His329Gln	0					HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q	p.H329Q	NM_006644.2	NP_006635.2	0	0	0	1.903942	Q92598	HS105_HUMAN		8	1331	-		Lung SC(185;0.0257)	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	1	1	hg19	c.987T>A	CCDS9340.1	0	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104751	0.06967	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.68	0.836	0.18891	5.68	0.836	0.18891	.	0.617569	0.17125	N	0.186070	T	0.10423	0.0255	N	0.02916	-0.46	0.23751	N	0.996945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.004;0.0;0.001	T	0.18777	-1.0326	10	0.38643	T	0.18	-0.9598	3.3253	0.07064	0.1111:0.5268:0.1024:0.2596	.	148;288;331;329;329	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Q	329;329;288;331;148;380	ENSP00000318687:H329Q;ENSP00000369768:H329Q;ENSP00000369769:H288Q;ENSP00000396090:H331Q;ENSP00000388778:H148Q	ENSP00000318687:H329Q	H	-	3	2	2	HSPH1	30622241	30622241	0.993000	0.37304	0.253000	0.24343	0.000000	0.00434	0.299000	0.19138	0.050000	0.15949	-1.263000	0.01449	CAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-4.728971	1	0.170000				22	22		461	453	0		1	1		0	0	92	0		9.999986e-01	9.999810e-01	0	17	0	353	0	22	461
FRY	10129	broad.mit.edu	37	13	32722003	32722003	+	Silent	SNP	T	T	G	rs199638995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	437						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		TCACAACACTTTTCCCCAAAG	0.463																																						ENST00000380250.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(1309-1311)ctT>ctG		furry homolog (Drosophila)							141.0	136.0	138.0					13																	32722003		1845	4085	5930	SO:0001819	synonymous_variant	10129	0	0					g.chr13:32722003T>G	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.1311T>G	chr13.hg19:g.32722003T>G		0						p.L437L	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		13	1807	+		Lung SC(185;0.0271)	Q9Y3N6	Silent	SNP	ENST00000380250.3	1	1	hg19	c.1311T>G	CCDS41875.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_023037			82	78		408	392	1		1	0		0	0	107	0		1	8.692244e-01	0	1	0	19	0	82	408
FRY	10129	broad.mit.edu	37	13	32745346	32745346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745346A>C	ENST00000380250.3	+	18	2586	c.2090A>C	c.(2089-2091)aAa>aCa	p.K697T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	697						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		ACCCAGTGGAAACTAGTCATC	0.418																																						ENST00000380250.3	0.630000	0.180000	5.000000e-01	2.600000e-01	0.360000	0.386402	0.360000	0.350000																										0				132						c.(2089-2091)aAa>aCa		furry homolog (Drosophila)							73.0	70.0	71.0					13																	32745346		1957	4181	6138	SO:0001583	missense	10129	0	0					g.chr13:32745346A>C	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.2090A>C	chr13.hg19:g.32745346A>C	ENSP00000369600:p.Lys697Thr	0						p.K697T	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		18	2586	+		Lung SC(185;0.0271)	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	0	1	hg19	c.2090A>C	CCDS41875.1	0	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475064	0.63737	.	.	ENSG00000073910	ENST00000380250	T	0.26373	1.74	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.095708	0.64402	D	0.000001	T	0.31295	0.0792	M	0.63843	1.955	0.80722	D	1	B	0.21606	0.058	B	0.30495	0.116	T	0.10520	-1.0626	10	0.14656	T	0.56	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	697	Q5TBA9	FRY_HUMAN	T	697	ENSP00000369600:K697T	ENSP00000369600:K697T	K	+	2	0	0	FRY	31643346	31643346	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.940000	0.56599	2.367000	0.80283	0.528000	0.53228	AAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-10.297500	1	0.170000	NM_023037			9	9		272	264	0		1	0		0	0	48	0		9.936365e-01	6.848827e-02	0	0	0	12	0	9	272
FRY	10129	broad.mit.edu	37	13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	731						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		TCAGTCGGAACGAGGTCCCCA	0.448																																						ENST00000380250.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(2191-2193)Cga>Tga		furry homolog (Drosophila)							145.0	148.0	147.0					13																	32747543		1983	4165	6148	SO:0001587	stop_gained	10129	0	0					g.chr13:32747543C>T	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.2191C>T	chr13.hg19:g.32747543C>T	ENSP00000369600:p.Arg731*	0						p.R731*	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		19	2687	+		Lung SC(185;0.0271)	Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	0	1	hg19	c.2191C>T	CCDS41875.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.495109	0.99568	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.75	3.84	0.44239	5.75	3.84	0.44239	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.018	0.71600	0.2216:0.7784:0.0:0.0	.	.	.	.	X	731	.	ENSP00000369600:R731X	R	+	1	2	2	FRY	31645543	31645543	0.894000	0.30519	0.967000	0.41034	0.999000	0.98932	1.229000	0.32600	2.708000	0.92522	0.650000	0.86243	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1		2	2	2	0		0	0	100		100	96	1	2.060000	-20.000000	1	0.170000	NM_023037			86	86		428	424	1		1	0		0	0	100	0		1	8.863114e-01	0	0	0	21	0	86	428
FRY	10129	broad.mit.edu	37	13	32768363	32768363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1225						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		GGGCAATTGACCGATGCTACA	0.428																																						ENST00000380250.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				132						c.(3673-3675)gaC>gaT		furry homolog (Drosophila)							133.0	126.0	128.0					13																	32768363		1895	4125	6020	SO:0001819	synonymous_variant	10129	0	0					g.chr13:32768363C>T	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.3675C>T	chr13.hg19:g.32768363C>T		0						p.D1225D	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		29	4171	+		Lung SC(185;0.0271)	Q9Y3N6	Silent	SNP	ENST00000380250.3	1	1	hg19	c.3675C>T	CCDS41875.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_023037			73	71		398	395	1		1	0		0	0	93	0		1	6.637849e-01	0	0	0	14	0	73	398
FRY	10129	broad.mit.edu	37	13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1471						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		CGACACAGTTCTCCTACCCTA	0.488																																						ENST00000380250.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				132						c.(4411-4413)Ctc>Atc		furry homolog (Drosophila)							128.0	132.0	130.0					13																	32783857		1976	4145	6121	SO:0001583	missense	10129	0	0					g.chr13:32783857C>A	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.4411C>A	chr13.hg19:g.32783857C>A	ENSP00000369600:p.Leu1471Ile	0						p.L1471I	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		33	4907	+		Lung SC(185;0.0271)	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	1	1	hg19	c.4411C>A	CCDS41875.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196285	0.78902	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29917	1.55	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64262	-0.6449	10	0.66056	D	0.02	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	1471	Q5TBA9	FRY_HUMAN	I	1471;308	ENSP00000369600:L1471I	ENSP00000369600:L1471I	L	+	1	0	0	FRY	31681857	31681857	1.000000	0.71417	0.882000	0.34594	0.924000	0.55760	4.636000	0.61339	2.592000	0.87571	0.561000	0.74099	CTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_023037			58	57		254	252	1		1	0		0	0	69	0		1	9.737624e-01	0	0	0	28	0	58	254
FRY	10129	broad.mit.edu	37	13	32852676	32852676	+	Silent	SNP	C	C	T	rs554801796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2820						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		CAGGGGACTCCGAAGAAAAGG	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.0					ENST00000380250.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995571	0.990000	1.000000																										0				132						c.(8458-8460)tcC>tcT		furry homolog (Drosophila)							129.0	128.0	128.0					13																	32852676		1839	4095	5934	SO:0001819	synonymous_variant	10129	2	120800	40				g.chr13:32852676C>T	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.8460C>T	chr13.hg19:g.32852676C>T		0					FRY_ENST00000542859.1_Silent_p.S190S	p.S2820S	NM_023037.2	NP_075463.2	0	0	0	1.903942	Q5TBA9	FRY_HUMAN		58	8956	+		Lung SC(185;0.0271)	Q9Y3N6	Silent	SNP	ENST00000380250.3	1	1	hg19	c.8460C>T	CCDS41875.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1		2	2	2	0		0	0	131		131	127	1	2.060000	-2.308070	0	0.170000	NM_023037			55	55		451	447	1		1	1		0	0	131	0		1	9.954446e-01	0	5	0	64	0	55	451
BRCA2	675	broad.mit.edu	37	13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000380152.3	+	10	1066	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	278					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)			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)		AAAGTAAATAGCTGCAAAGAC	0.289			"""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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183						c.(832-834)aGc>aAc	Homologous recombination	breast cancer 2, early onset							51.0	53.0	52.0					13																	32906448		2203	4294	6497	SO:0001583	missense	675	0	0		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	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)	g.chr13:32906448G>A	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.833G>A	chr13.hg19:g.32906448G>A	ENSP00000369497:p.Ser278Asn	0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N	p.S278N			0	0	0	1.903942	P51587	BRCA2_HUMAN		10	1066	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	1	1	hg19	c.833G>A	CCDS9344.1	1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464933	0.26335	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00808	5.67;5.67	5.74	2.66	0.31614	5.74	2.66	0.31614	.	0.448251	0.24745	N	0.035951	T	0.00845	0.0028	L	0.29908	0.895	0.09310	N	1	B;B	0.25719	0.132;0.007	B;B	0.20184	0.028;0.008	T	0.49021	-0.8982	10	0.44086	T	0.13	.	5.4333	0.16466	0.273:0.153:0.574:0.0	.	278;278	P51587;A1YBP1	BRCA2_HUMAN;.	N	278;278;276	ENSP00000369497:S278N;ENSP00000439902:S278N	ENSP00000369497:S278N	S	+	2	0	0	BRCA2	31804448	31804448	0.000000	0.05858	0.011000	0.14972	0.815000	0.46073	0.286000	0.18902	0.784000	0.33661	0.655000	0.94253	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_000059			42	42		181	176	1		1	0	1	0	0	65	518		1	9.687056e-02	1	0	79	3	465	42	181
BRCA2	675	broad.mit.edu	37	13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000380152.3	+	11	3282	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1017					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)			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)		AAATAAGGAAATCAAGCTCTC	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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183						c.(3049-3051)Atc>Ttc	Homologous recombination	breast cancer 2, early onset							43.0	47.0	46.0					13																	32911541		2203	4295	6498	SO:0001583	missense	675	0	0		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	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)	g.chr13:32911541A>T	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.3049A>T	chr13.hg19:g.32911541A>T	ENSP00000369497:p.Ile1017Phe	0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F	p.I1017F			0	0	0	1.903942	P51587	BRCA2_HUMAN		11	3282	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	1	1	hg19	c.3049A>T	CCDS9344.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132024	0.77662	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77877	-1.13;-1.13	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.83571	0.5283	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	10	0.87932	D	0	.	16.3468	0.83138	1.0:0.0:0.0:0.0	.	1017	P51587	BRCA2_HUMAN	F	1017	ENSP00000369497:I1017F;ENSP00000439902:I1017F	ENSP00000369497:I1017F	I	+	1	0	0	BRCA2	31809541	31809541	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.875000	0.75551	2.263000	0.75096	0.529000	0.55759	ATC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_000059			53	52		216	211	1		1	0	1	0	0	50	298		1	1.043458e-01	1	0	42	3	303	53	216
BRCA2	675	broad.mit.edu	37	13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	rs276174841|rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000380152.3	+	11	4270	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1346	Interaction with POLH.				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)			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)		AAAAATGATACTGTTTGTATT	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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183	GRCh37	CD993687	BRCA2	D	rs80359421	c.(4036-4038)aCt>aAt	Homologous recombination	breast cancer 2, early onset							46.0	47.0	47.0					13																	32912529		2202	4299	6501	SO:0001583	missense	675	0	0		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	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)	g.chr13:32912529C>A	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.4037C>A	chr13.hg19:g.32912529C>A	ENSP00000369497:p.Thr1346Asn	0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N	p.T1346N			0	0	0	1.903942	P51587	BRCA2_HUMAN		11	4270	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	1	1	hg19	c.4037C>A	CCDS9344.1	1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352859	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	4.89	0.778	0.18543	4.89	0.778	0.18543	.	0.716618	0.13593	N	0.376425	T	0.01765	0.0056	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.53912	0.737	T	0.47459	-0.9116	10	0.48119	T	0.1	.	2.8585	0.05579	0.3635:0.2964:0.256:0.0841	.	1346	P51587	BRCA2_HUMAN	N	1346	ENSP00000369497:T1346N;ENSP00000439902:T1346N	ENSP00000369497:T1346N	T	+	2	0	0	BRCA2	31810529	31810529	0.000000	0.05858	0.003000	0.11579	0.137000	0.21094	-0.224000	0.09164	0.307000	0.22880	-0.262000	0.10625	ACT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_000059			46	46		167	164	1		1	0	1	0	0	52	50		1	1.237976e-01	9.999800e-01	1	15	2	48	46	167
BRCA2	675	broad.mit.edu	37	13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	rs397507750|rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000380152.3	+	11	5158	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1642	Interaction with POLH.				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)			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)		GTACATGAAAATGTAGAAAAA	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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998743	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183						c.(4924-4926)aAt>aCt	Homologous recombination	breast cancer 2, early onset							34.0	36.0	35.0					13																	32913417		2202	4298	6500	SO:0001583	missense	675	0	0		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	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)	g.chr13:32913417A>C	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.4925A>C	chr13.hg19:g.32913417A>C	ENSP00000369497:p.Asn1642Thr	0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T	p.N1642T			0	0	0	1.903942	P51587	BRCA2_HUMAN		11	5158	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	1	1	hg19	c.4925A>C	CCDS9344.1	1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975053	0.34848	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00873	5.59;5.59	5.96	0.18	0.15068	5.96	0.18	0.15068	.	0.582880	0.18290	N	0.145734	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	1	B	0.29909	0.261	B	0.20184	0.028	T	0.44143	-0.9347	10	0.52906	T	0.07	.	7.2658	0.26229	0.3915:0.3705:0.0:0.2381	.	1642	P51587	BRCA2_HUMAN	T	1642	ENSP00000369497:N1642T;ENSP00000439902:N1642T	ENSP00000369497:N1642T	N	+	2	0	0	BRCA2	31811417	31811417	0.219000	0.23619	0.013000	0.15412	0.989000	0.77384	1.041000	0.30291	0.105000	0.17753	0.533000	0.62120	AAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	7	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_000059			30	30		180	178	1		1	0	1	0	1	41	670		1	1.054323e-01	1	0	126	4	673	30	180
BRCA2	675	broad.mit.edu	37	13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A	rs397507835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000380152.3	+	11	6468	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2079					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)			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)		AGTTAAGGGAGTGTTAGAGGA	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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183						c.(6235-6237)Gtg>Atg	Homologous recombination	breast cancer 2, early onset							64.0	66.0	65.0					13																	32914727		2203	4298	6501	SO:0001583	missense	675	0	0		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	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)	g.chr13:32914727G>A	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.6235G>A	chr13.hg19:g.32914727G>A	ENSP00000369497:p.Val2079Met	0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M	p.V2079M			0	0	0	1.903942	P51587	BRCA2_HUMAN		11	6468	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	1	1	hg19	c.6235G>A	CCDS9344.1	1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165768	0.01673	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75260	-0.92;-0.92	5.77	3.39	0.38822	5.77	3.39	0.38822	.	0.200919	0.45606	N	0.000349	T	0.40247	0.1109	N	0.02539	-0.55	0.28309	N	0.922762	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.02654	T	1	.	6.3144	0.21182	0.7241:0.1349:0.141:0.0	.	2079	P51587	BRCA2_HUMAN	M	2079	ENSP00000369497:V2079M;ENSP00000439902:V2079M	ENSP00000369497:V2079M	V	+	1	0	0	BRCA2	31812727	31812727	0.973000	0.33851	1.000000	0.80357	0.778000	0.44026	0.733000	0.26087	1.024000	0.39682	-0.312000	0.09012	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_000059			59	58		345	334	1		1	0	1	0	0	103	276		1	5.943999e-02	1	0	53	3	319	59	345
BRCA2	675	broad.mit.edu	37	13	32953972	32953972	+	Silent	SNP	T	T	C	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000380152.3	+	23	9272	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000544455.1_Silent_p.T3013T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3013			T -> I (in BC; unknown pathological significance; dbSNP:rs28897755). {ECO:0000269|PubMed:15026808, ECO:0000269|PubMed:15635067}.		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)			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)		ATCTTGCAACTTCAAAATCTA	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)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	13q12	675	D, Mis, N, F, S	familial breast/ovarian cancer gene 2				"""L, E"""	L, E		breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)	breast, ovarian, pancreatic		0				183						c.(9037-9039)acT>acC	Homologous recombination	breast cancer 2, early onset							57.0	57.0	57.0					13																	32953972		2203	4294	6497	SO:0001819	synonymous_variant	675	0	0		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	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)	g.chr13:32953972T>C	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.9039T>C	chr13.hg19:g.32953972T>C		0	TCGA Ovarian(8;0.087)				BRCA2_ENST00000544455.1_Silent_p.T3013T	p.T3013T			0	0	0	1.903942	P51587	BRCA2_HUMAN		23	9272	+		Lung SC(185;0.0262)	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	1	1	hg19	c.9039T>C	CCDS9344.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-19.963360	1	0.170000	NM_000059			40	40		204	199	1		1	0	1	0	0	53	165		1	2.640148e-01	1	1	32	5	178	40	204
N4BP2L2	10443	broad.mit.edu	37	13	33016813	33016813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33016813C>T	ENST00000504114.1	-	6	1907	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E606K|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K|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)			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)		GTCTGAGATTCGAAAGTCAAA	0.323																																						ENST00000504114.1	0.990000	0.290000	7.900000e-01	4.200000e-01	0.590000	0.611976	0.590000	1.000000																										0				16						c.(1816-1818)Gaa>Aaa		NEDD4 binding protein 2-like 2							41.0	41.0	41.0					13																	33016813		1804	4066	5870	SO:0001583	missense	10443	0	0					g.chr13:33016813C>T	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.1816G>A	chr13.hg19:g.33016813C>T	ENSP00000427477:p.Glu606Lys	0					N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E606K|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K	p.E606K			0	0	0	1.903942	Q92802	N42L2_HUMAN		6	1907	-		Lung SC(185;0.0262)	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	1	1	hg19	c.1816G>A		0	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.855970	0.02630	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.13	-0.447	0.12234	5.13	-0.447	0.12234	.	1.638090	0.03096	N	0.160384	T	0.12390	0.0301	N	0.01705	-0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.27054	-1.0085	9	0.02654	T	1	0.0064	4.7777	0.13187	0.0:0.171:0.3034:0.5257	.	606;621;504;504	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	K	504;533;606;606;621	.	ENSP00000350104:E606K	E	-	1	0	0	N4BP2L2;RP11-298P3.4	31914813	31914813	0.002000	0.14202	0.013000	0.15412	0.029000	0.11900	0.222000	0.17699	-0.297000	0.08934	-0.378000	0.06908	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-11.841570	1	0.170000	NM_014887			9	9		164	163	0		1	0		0	0	48	0		9.944537e-01	7.630078e-02	0	0	0	8	0	9	164
N4BP2L2	10443	broad.mit.edu	37	13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000504114.1	-	6	1210	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*|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)			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)		GTCCTGCAGGCCAGCTACCAA	0.423																																						ENST00000504114.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998519	0.990000	1.000000																										0				16						c.(1117-1119)tgG>tgA		NEDD4 binding protein 2-like 2							77.0	74.0	75.0					13																	33017510		1855	4100	5955	SO:0001587	stop_gained	10443	0	0					g.chr13:33017510C>T	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.1119G>A	chr13.hg19:g.33017510C>T	ENSP00000427477:p.Trp373*	0					N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*	p.W373*			0	0	0	1.903942	Q92802	N42L2_HUMAN		6	1210	-		Lung SC(185;0.0262)	A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	0	1	hg19	c.1119G>A		1	.	.	.	.	.	.	.	.	.	.	C	37	6.562807	0.97667	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.61	4.77	0.60923	5.61	4.77	0.60923	.	0.509941	0.20334	N	0.094363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3345	12.0509	0.53505	0.0:0.9203:0.0:0.0797	.	.	.	.	X	271;300;373;373;388	.	.	W	-	3	0	0	N4BP2L2;RP11-298P3.4	31915510	31915510	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	1.719000	0.38011	1.368000	0.46115	0.650000	0.86243	TGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-18.067570	1	0.170000	NM_014887			44	42		314	312	0		1	0		0	0	73	0		1	4.341812e-02	0	0	0	3	0	44	314
N4BP2L2	10443	broad.mit.edu	37	13	33017909	33017909	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017909C>A	ENST00000504114.1	-	6	811	c.720G>T	c.(718-720)aaG>aaT	p.K240N	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K240N|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N|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)			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)		TATCACCTTCCTTAGAGAGGT	0.338																																						ENST00000504114.1	1.000000	0.240000	8.900000e-01	4.000000e-01	0.610000	0.638968	0.610000	1.000000																										0				16						c.(718-720)aaG>aaT		NEDD4 binding protein 2-like 2							91.0	86.0	88.0					13																	33017909		1858	4098	5956	SO:0001583	missense	10443	0	0					g.chr13:33017909C>A	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.720G>T	chr13.hg19:g.33017909C>A	ENSP00000427477:p.Lys240Asn	0					N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K240N|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N	p.K240N			0	0	0	1.903942	Q92802	N42L2_HUMAN		6	811	-		Lung SC(185;0.0262)	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	0	1	hg19	c.720G>T		0	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888745	0.52014	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.47869	0.83	5.34	-5.43	0.02632	5.34	-5.43	0.02632	.	3.025590	0.00718	N	0.000868	T	0.57359	0.2048	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.63880	0.985;0.985;0.993;0.985	P;P;P;P	0.59889	0.62;0.62;0.865;0.775	T	0.59963	-0.7355	10	0.34782	T	0.22	-6.4438	9.3972	0.38410	0.1187:0.1481:0.0:0.7332	.	240;255;138;138	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	N	138;167;240;240;255;684	ENSP00000423362:K684N	ENSP00000350104:K240N	K	-	3	2	2	N4BP2L2;RP11-298P3.4	31915909	31915909	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.012000	0.12699	-1.080000	0.03109	-0.140000	0.14226	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-9.157009	1	0.170000	NM_014887			5	5		88	87	0		1	0		0	0	25	0		9.375392e-01	1.567820e-01	0	0	0	11	0	5	88
PDS5B	23047	broad.mit.edu	37	13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	633					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)			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)		AGATGGAACAGCAGATGATGA	0.323																																						ENST00000315596.10	1.000000	0.670000	1	8.400000e-01	0.990000	0.943128	0.990000	1.000000																										0				62						c.(1897-1899)Gca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							104.0	102.0	102.0					13																	33281111		1882	4109	5991	SO:0001583	missense	23047	0	0					g.chr13:33281111G>T	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.1897G>T	chr13.hg19:g.33281111G>T	ENSP00000313851:p.Ala633Ser	0						p.A633S	NM_015032.3	NP_055847.1	0	0	0	1.903942	Q9NTI5	PDS5B_HUMAN		18	2083	+		Lung SC(185;0.0367)	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	1	1	hg19	c.1897G>T	CCDS41878.1	1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028669	0.54790	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.70749	-0.51	5.91	5.91	0.95273	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	N	0.20530	0.585	0.80722	D	1	B	0.19331	0.035	B	0.20184	0.028	T	0.54153	-0.8336	10	0.10902	T	0.67	-0.2668	20.3011	0.98612	0.0:0.0:1.0:0.0	.	633	Q9NTI5	PDS5B_HUMAN	S	633	ENSP00000313851:A633S	ENSP00000313851:A633S	A	+	1	0	0	PDS5B	32179111	32179111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.804000	0.96469	0.650000	0.86243	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-8.722748	1	0.170000	NM_015032			21	20		201	197	1		1	1		0	0	74	0		9.999977e-01	9.318116e-01	0	7	0	39	0	21	201
KL	9365	broad.mit.edu	37	13	33591381	33591381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	ENST00000380099.3	+	1	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	268	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTGGTGGCGCACAACCTC	0.716																																						ENST00000380099.3	1.000000	0.810000	1	9.900000e-01	0.990000	0.986640	0.990000	1.000000																										0				41						c.(802-804)gCg>gTg		klotho							6.0	6.0	6.0					13																	33591381		2021	4022	6043	SO:0001583	missense	9365	1	117322	20				g.chr13:33591381C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.803C>T	chr13.hg19:g.33591381C>T	ENSP00000369442:p.Ala268Val	0					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.A268V	NM_004795.3	NP_004786.2	0	0	0	1.903942	Q9UEF7	KLOT_HUMAN		1	811	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	0	1	hg19	c.803C>T	CCDS9347.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976631	0.74360	.	.	ENSG00000133116	ENST00000380099	T	0.32023	1.47	4.55	4.55	0.56014	4.55	4.55	0.56014	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.059433	0.64402	D	0.000004	T	0.49898	0.1584	L	0.59912	1.85	0.46564	D	0.999102	D	0.89917	1.0	D	0.72982	0.979	T	0.51419	-0.8708	10	0.72032	D	0.01	-19.0702	13.2771	0.60194	0.0:0.8408:0.1592:0.0	.	268	Q9UEF7	KLOT_HUMAN	V	268	ENSP00000369442:A268V	ENSP00000369442:A268V	A	+	2	0	0	KL	32489381	32489381	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.725000	0.38074	2.357000	0.79964	0.563000	0.77884	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				11	11		55	55	0		1	0		0	0	14	0		9.988204e-01	0	0	0	0	1	0	11	55
KL	9365	broad.mit.edu	37	13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	rs141695559	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	686	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527																																						ENST00000380099.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				41						c.(2056-2058)aCg>aTg		klotho		C	MET/THR	0,4406		0,0,2203	66.0	59.0	61.0		2057	5.8	1.0	13	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	KL	NM_004795.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	686/1013	33635273	2,13004	2203	4300	6503	SO:0001583	missense	9365	3	121412	33				g.chr13:33635273C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2057C>T	chr13.hg19:g.33635273C>T	ENSP00000369442:p.Thr686Met	0					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.T686M	NM_004795.3	NP_004786.2	0	0	0	1.903942	Q9UEF7	KLOT_HUMAN		4	2065	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	1	1	hg19	c.2057C>T	CCDS9347.1	1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862148	0.71949	0.0	2.33E-4	ENSG00000133116	ENST00000380099	T	0.58060	0.36	5.81	5.81	0.92471	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90088	0.4175	10	0.87932	D	0	-26.5349	20.0763	0.97746	0.0:1.0:0.0:0.0	.	686	Q9UEF7	KLOT_HUMAN	M	686	ENSP00000369442:T686M	ENSP00000369442:T686M	T	+	2	0	0	KL	32533273	32533273	1.000000	0.71417	0.964000	0.40570	0.410000	0.31052	7.686000	0.84128	2.756000	0.94617	0.655000	0.94253	ACG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000				49	49		244	243	1		1	0		0	0	67	0		1	2.920293e-02	0	0	0	2	0	49	244
NBEA	26960	broad.mit.edu	37	13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000400445.3	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	169					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				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)		AAAATGAGTGCTGTAGATGAC	0.348																																						ENST00000400445.3	1.000000	0.420000	1	5.800000e-01	0.770000	0.776817	0.770000	1.000000																										0				108						c.(505-507)gCt>gAt		neurobeachin							58.0	54.0	55.0					13																	35615281		1885	4121	6006	SO:0001583	missense	26960	0	0					g.chr13:35615281C>A	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.506C>A	chr13.hg19:g.35615281C>A	ENSP00000383295:p.Ala169Asp	0					NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	p.A169D	NM_015678.4	NP_056493.3	0	0	0	1.903942	Q8NFP9	NBEA_HUMAN		2	1040	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	1	1	hg19	c.506C>A	CCDS45026.1	0	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994515	0.54041	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.134557	0.51477	D	0.000096	T	0.35307	0.0927	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	T	0.08391	-1.0724	10	0.30078	T	0.28	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	169	Q5T321	.	D	169	ENSP00000440951:A169D;ENSP00000383295:A169D;ENSP00000369271:A169D;ENSP00000308534:A169D	ENSP00000308534:A169D	A	+	2	0	0	NBEA	34513281	34513281	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.496000	0.84212	0.585000	0.79938	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-15.389190	1	0.170000	NM_015678			11	11		147	140	0		1	0		0	0	30	0		9.980988e-01	1.446664e-01	0	1	0	8	0	11	147
NBEA	26960	broad.mit.edu	37	13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000400445.3	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	336					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				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)		ATTTACAATCGATGGAGGAAC	0.308																																						ENST00000400445.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(1006-1008)cGa>cAa		neurobeachin							213.0	187.0	195.0					13																	35630181		1857	4095	5952	SO:0001583	missense	26960	0	0					g.chr13:35630181G>A	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.1007G>A	chr13.hg19:g.35630181G>A	ENSP00000383295:p.Arg336Gln	0					NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	p.R336Q	NM_015678.4	NP_056493.3	0	0	0	1.903942	Q8NFP9	NBEA_HUMAN		7	1541	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	1	1	hg19	c.1007G>A	CCDS45026.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.323043	0.95708	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.78117	0.4233	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79605	-0.1734	10	0.52906	T	0.07	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	336	Q5T321	.	Q	336	ENSP00000440951:R336Q;ENSP00000383295:R336Q;ENSP00000369271:R336Q;ENSP00000308534:R336Q	ENSP00000308534:R336Q	R	+	2	0	0	NBEA	34528181	34528181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.266000	0.75297	0.563000	0.77884	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	50		50	51	1	2.060000	-20.000000	1	0.170000	NM_015678			64	64		250	238	1		1	0		0	0	50	0		1	2.749927e-01	0	0	0	5	0	64	250
MAB21L1	4081	broad.mit.edu	37	13	36049526	36049526	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	250					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				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)		GGATGGAGAGGCACTTCTTTC	0.567																																						ENST00000379919.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				20						c.(748-750)tgC>tgT		mab-21-like 1 (C. elegans)							77.0	82.0	80.0					13																	36049526		2203	4300	6503	SO:0001819	synonymous_variant	4081	0	0					g.chr13:36049526G>A	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.750C>T	chr13.hg19:g.36049526G>A		0					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.C250C	NM_005584.4	NP_005575.1	0	0	0	1.903942	Q13394	MB211_HUMAN		1	1306	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	Q6I9T5	Silent	SNP	ENST00000379919.4	1	1	hg19	c.750C>T	CCDS9353.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	0	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_005584			70	70		458	448	0		1	0		0	0	106	0		1	1.816437e-02	0	0	0	2	0	70	458
MAB21L1	4081	broad.mit.edu	37	13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	73					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.E73K(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)		ACTTCAAATTCGGTGGGGGAG	0.577																																						ENST00000379919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E73K(1)	skin(1)	20						c.(217-219)Gaa>Aaa		mab-21-like 1 (C. elegans)							94.0	94.0	94.0					13																	36050059		2203	4300	6503	SO:0001583	missense	4081	2	121412	35				g.chr13:36050059C>T	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.217G>A	chr13.hg19:g.36050059C>T	ENSP00000369251:p.Glu73Lys	0					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.E73K	NM_005584.4	NP_005575.1	0	0	0	1.903942	Q13394	MB211_HUMAN		1	773	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	1	1	hg19	c.217G>A	CCDS9353.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729709	0.89390	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.82323	2.585	0.80722	D	1	P	0.48230	0.907	P	0.47827	0.558	T	0.02901	-1.1096	10	0.54805	T	0.06	-0.5448	19.7375	0.96212	0.0:1.0:0.0:0.0	.	73	Q13394	MB211_HUMAN	K	73	ENSP00000369251:E73K	ENSP00000369251:E73K	E	-	1	0	0	MAB21L1	34948059	34948059	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	1	0	0		2	2	2	0		0	0	108		108	106	1	2.060000	-20.000000	1	0.170000	NM_005584			114	113		440	428	1		1	0		0	0	108	0		1	4.307506e-02	0	0	0	2	0	114	440
MAB21L1	4081	broad.mit.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				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)		GATAGTTTTGGCAATGGCAGC	0.507																																						ENST00000379919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(82-84)gCc>gTc		mab-21-like 1 (C. elegans)							101.0	104.0	103.0					13																	36050193		2203	4300	6503	SO:0001583	missense	4081	0	0					g.chr13:36050193G>A	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.83C>T	chr13.hg19:g.36050193G>A	ENSP00000369251:p.Ala28Val	0					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.A28V	NM_005584.4	NP_005575.1	0	0	0	1.903942	Q13394	MB211_HUMAN		1	639	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	1	1	hg19	c.83C>T	CCDS9353.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825485	0.50739	.	.	ENSG00000180660	ENST00000379919	T	0.18810	2.19	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25044	0.0608	M	0.61703	1.905	0.48632	D	0.999686	B	0.06786	0.001	B	0.09377	0.004	T	0.01570	-1.1322	10	0.36615	T	0.2	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	V	28	ENSP00000369251:A28V	ENSP00000369251:A28V	A	-	2	0	0	MAB21L1	34948193	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_005584			153	151		581	571	1		1	0		0	0	124	0		1	4.388626e-02	0	0	0	2	0	153	581
NBEA	26960	broad.mit.edu	37	13	36220438	36220438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000400445.3	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2554	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				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)		GACGCCATCTCAGTTGCTTAT	0.468																																						ENST00000400445.3	1.000000	0.430000	1	6.000000e-01	0.810000	0.803591	0.810000	1.000000																										0				108						c.(7660-7662)Cag>Tag		neurobeachin							102.0	99.0	100.0					13																	36220438		2053	4190	6243	SO:0001587	stop_gained	26960	0	0					g.chr13:36220438C>T	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.7660C>T	chr13.hg19:g.36220438C>T	ENSP00000383295:p.Gln2554*	0					NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*	p.Q2554*	NM_015678.4	NP_056493.3	0	0	0	1.903942	Q8NFP9	NBEA_HUMAN		50	8194	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	0	1	hg19	c.7660C>T	CCDS45026.1	0	.	.	.	.	.	.	.	.	.	.	C	40	8.518044	0.98845	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9332	0.92574	0.0:1.0:0.0:0.0	.	.	.	.	X	2554;2554;2551;2554;1181;132;347;132	.	ENSP00000308534:Q2554X	Q	+	1	0	0	NBEA	35118438	35118438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.549000	0.85964	0.563000	0.77884	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.320088	1	0.170000	NM_015678			10	10		126	123	0		1	0		0	0	25	0		9.968932e-01	4.183477e-01	0	1	0	17	0	10	126
DCLK1	9201	broad.mit.edu	37	13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000360631.3	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000255448.4_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	651					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)			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)		TCTGGGAGGCCATCATCCTGG	0.398																																						ENST00000360631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1951-1953)Ggc>Agc		doublecortin-like kinase 1							178.0	172.0	174.0					13																	36367610		2203	4300	6503	SO:0001583	missense	9201	0	0					g.chr13:36367610C>T	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.1951G>A	chr13.hg19:g.36367610C>T	ENSP00000353846:p.Gly651Ser	0					DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S|DCLK1_ENST00000255448.4_Missense_Mutation_p.G651S	p.G651S			0	0	0	1.903942	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	16	2162	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	1	1	hg19	c.1951G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.194910|3.194910	0.58017|0.58017	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893|ENST00000539451	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.111469|.	0.64402|.	D|.	0.000010|.	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26975|.	0.165;0.005;0.016;0.165|.	B;B;B;B|.	0.30401|.	0.115;0.009;0.02;0.115|.	T|T	0.62011|0.62011	-0.6944|-0.6944	10|6	0.42905|0.72032	T|D	0.14|0.01	.|.	19.3844|19.3844	0.94551|0.94551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;651;651;344|.	O15075-4;O15075;O15075-2;O15075-3|.	.;DCLK1_HUMAN;.;.|.	S|I	343;651;651;344|609	ENSP00000255448:G651S;ENSP00000353846:G651S;ENSP00000369223:G344S|.	ENSP00000255448:G651S|ENSP00000441665:M609I	G|M	-|-	1|3	0|0	0|0	DCLK1|DCLK1	35265610|35265610	35265610|35265610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.711000|3.711000	0.54868|0.54868	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GGC|ATG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_004734			62	59		264	259	0		1	0		0	0	92	0		1	4.699068e-01	0	0	0	8	0	62	264
DCLK1	9201	broad.mit.edu	37	13	36396968	36396968	+	Silent	SNP	G	G	A	rs143725017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36396968G>A	ENST00000360631.3	-	11	1663	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	DCLK1_ENST00000255448.4_Silent_p.T484T|DCLK1_ENST00000379893.1_Silent_p.T177T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	484	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)			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)		CGTCTCTCTCGGTGTATTTGT	0.522													G|||	15	0.00299521	0.0113	0.0	5008	,	,		16499	0.0		0.0	False		,,,				2504	0.0					ENST00000360631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1450-1452)acC>acT		doublecortin-like kinase 1		G	,,	50,4356	51.6+/-87.1	1,48,2154	197.0	171.0	180.0		531,531,1452	-11.7	0.0	13	dbSNP_134	180	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	1,48,6454	AA,AG,GG		0.0,1.1348,0.3844	,,	177/423,177/434,484/730	36396968	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	9201	150	121412	56				g.chr13:36396968G>A	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.1452C>T	chr13.hg19:g.36396968G>A		0					DCLK1_ENST00000379893.1_Silent_p.T177T|DCLK1_ENST00000255448.4_Silent_p.T484T	p.T484T			0	0	0	1.903942	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	11	1663	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	1	0	hg19	c.1452C>T		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-2.437259	0	0.170000	NM_004734			77	76		388	381	1		1	0		0	0	91	0		1	7.975491e-01	0	0	0	17	0	77	388
DCLK1	9201	broad.mit.edu	37	13	36686021	36686021	+	Silent	SNP	C	C	T	rs202117078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000360631.3	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000255448.4_Silent_p.T236T|DCLK1_ENST00000379892.4_Silent_p.T236T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)			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)		TCCCATCCAACGTGTACAGGC	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.0					ENST00000360631.3	1.000000	0.600000	1	7.200000e-01	0.850000	0.855535	0.850000	1.000000																										0				64						c.(706-708)acG>acA		doublecortin-like kinase 1		C		2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	93.0		708	-9.3	0.0	13		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCLK1	NM_004734.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		236/730	36686021	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9201	18	121412	46				g.chr13:36686021C>T	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.708G>A	chr13.hg19:g.36686021C>T		0					DCLK1_ENST00000379892.4_Silent_p.T236T|DCLK1_ENST00000255448.4_Silent_p.T236T	p.T236T			0	0	0	1.903942	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	3	919	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	1	1	hg19	c.708G>A		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-9.356457	1	0.170000	NM_004734			32	31		383	375	0		1	0		0	0	72	0		1	2.445409e-01	0	0	0	12	0	32	383
DCLK1	9201	broad.mit.edu	37	13	36686204	36686204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000360631.3	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000255448.4_Silent_p.E175E|DCLK1_ENST00000379892.4_Silent_p.E175E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	175					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)			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)		TCTCTCGCACCTCTGAAGGGC	0.527																																						ENST00000360631.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				64						c.(523-525)gaG>gaA		doublecortin-like kinase 1							122.0	118.0	120.0					13																	36686204		2203	4300	6503	SO:0001819	synonymous_variant	9201	0	0					g.chr13:36686204C>T	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.525G>A	chr13.hg19:g.36686204C>T		0					DCLK1_ENST00000379892.4_Silent_p.E175E|DCLK1_ENST00000255448.4_Silent_p.E175E	p.E175E			0	0	0	1.903942	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	3	736	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	1	1	hg19	c.525G>A		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-3.017774	1	0.170000	NM_004734			86	86		541	536	1		1	0		0	0	107	0		1	9.528489e-02	0	0	0	4	0	86	541
DCLK1	9201	broad.mit.edu	37	13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000360631.3	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000255448.4_Missense_Mutation_p.V59A|DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	59	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)			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)		ATAGAAACGAACTTTCTTGGC	0.582																																						ENST00000360631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(175-177)gTt>gCt		doublecortin-like kinase 1							94.0	85.0	88.0					13																	36700099		2203	4300	6503	SO:0001583	missense	9201	0	0					g.chr13:36700099A>G	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.176T>C	chr13.hg19:g.36700099A>G	ENSP00000353846:p.Val59Ala	0					DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A|DCLK1_ENST00000255448.4_Missense_Mutation_p.V59A	p.V59A			0	0	0	1.903942	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	2	387	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	1	1	hg19	c.176T>C		1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.953052	0.53293	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.90324	-2.65;-2.65;-2.65	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.79258	2.445	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	D	0.87969	0.2735	10	0.30078	T	0.28	.	15.9073	0.79439	1.0:0.0:0.0:0.0	.	59	O15075-2	.	A	59	ENSP00000255448:V59A;ENSP00000353846:V59A;ENSP00000369222:V59A	ENSP00000255448:V59A	V	-	2	0	0	DCLK1	35598099	35598099	1.000000	0.71417	0.976000	0.42696	0.816000	0.46133	9.127000	0.94417	2.158000	0.67659	0.528000	0.53228	GTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_004734			100	98		390	381	1		1	0		0	0	83	0		1	6.902020e-01	0	0	0	11	0	100	390
SPG20	23111	broad.mit.edu	37	13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	609					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)			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)		ATTGCTTTGATACCAATGTTG	0.418																																						ENST00000451493.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999893	0.990000	1.000000																										0				27						c.(1825-1827)Atc>Gtc		spastic paraplegia 20 (Troyer syndrome)							235.0	203.0	214.0					13																	36878678		2203	4300	6503	SO:0001583	missense	23111	1	121412	30				g.chr13:36878678T>C	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.1825A>G	chr13.hg19:g.36878678T>C	ENSP00000414147:p.Ile609Val	0					SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_Missense_Mutation_p.I609V	p.I609V	NM_001142295.1	NP_001135767.1	0	0	0	1.903942	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	9	2042	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	1	1	hg19	c.1825A>G	CCDS9356.1	1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776230	0.49786	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.16	3.97	0.46021	5.16	3.97	0.46021	Senescence/spartin-associated (1);	0.109916	0.64402	N	0.000010	D	0.85570	0.5727	L	0.42581	1.335	0.38750	D	0.954083	P;P	0.49447	0.924;0.924	P;P	0.50617	0.646;0.646	T	0.82619	-0.0368	10	0.02654	T	1	-6.3075	10.8538	0.46786	0.0:0.0747:0.0:0.9253	.	609;609	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	609	ENSP00000406061:I609V;ENSP00000347314:I609V;ENSP00000414147:I609V	ENSP00000347314:I609V	I	-	1	0	0	SPG20	35776678	35776678	0.995000	0.38212	0.872000	0.34217	0.485000	0.33311	1.896000	0.39789	0.813000	0.34350	0.482000	0.46254	ATC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000				65	66		436	423	1		1	0		0	0	108	0		1	9.999986e-01	0	0	0	131	0	65	436
SPG20	23111	broad.mit.edu	37	13	36878745	36878745	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	586					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)			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)		CATGGTGGGTAGCTTCTCCTG	0.343																																						ENST00000451493.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				27						c.(1756-1758)gcT>gcC		spastic paraplegia 20 (Troyer syndrome)							110.0	95.0	100.0					13																	36878745		2203	4300	6503	SO:0001819	synonymous_variant	23111	1	121406	25				g.chr13:36878745A>G	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.1758T>C	chr13.hg19:g.36878745A>G		0					SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A	p.A586A	NM_001142295.1	NP_001135767.1	0	0	0	1.903942	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	9	1975	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	1	1	hg19	c.1758T>C	CCDS9356.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				52	49		206	205	1		1	1		0	0	43	0		1	1	0	6	0	147	0	52	206
SPG20	23111	broad.mit.edu	37	13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	402					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)			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)		ACATGGTACAATGTGACTCAG	0.358																																						ENST00000451493.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996942	0.990000	1.000000																										0				27						c.(1204-1206)aTt>aCt		spastic paraplegia 20 (Troyer syndrome)							96.0	84.0	88.0					13																	36900795		2203	4300	6503	SO:0001583	missense	23111	0	0					g.chr13:36900795A>G	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.1205T>C	chr13.hg19:g.36900795A>G	ENSP00000414147:p.Ile402Thr	0					SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T	p.I402T	NM_001142295.1	NP_001135767.1	0	0	0	1.903942	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	5	1422	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	1	1	hg19	c.1205T>C	CCDS9356.1	1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987410	0.18889	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.68	2.02	0.26589	5.68	2.02	0.26589	.	0.388105	0.26092	N	0.026399	T	0.73140	0.3549	N	0.24115	0.695	0.25394	N	0.988507	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.54146	-0.8337	10	0.12766	T	0.61	-3.3442	6.8046	0.23770	0.5431:0.0:0.4569:0.0	.	402;402;402	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	402	ENSP00000406061:I402T;ENSP00000347314:I402T;ENSP00000414147:I402T	ENSP00000347314:I402T	I	-	2	0	0	SPG20	35798795	35798795	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	2.090000	0.41682	0.435000	0.26365	0.460000	0.39030	ATT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				25	25		155	155	1		1	0		0	0	46	0		9.999999e-01	9.999956e-01	0	0	0	130	0	25	155
SPG20	23111	broad.mit.edu	37	13	36905734	36905734	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000494062.2_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						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)			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)		AGTCACAAACCTGAAAGGATT	0.313																																						ENST00000451493.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				27						c.e3-1		spastic paraplegia 20 (Troyer syndrome)							45.0	45.0	45.0					13																	36905734		2203	4300	6503	SO:0001630	splice_region_variant	23111	0	0					g.chr13:36905734C>A	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.811-1G>T	chr13.hg19:g.36905734C>A		0					SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000494062.2_Splice_Site		NM_001142295.1	NP_001135767.1	0	0	0	1.903942	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	3	1028	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	O60349|Q86Y67|Q9H1T2|Q9H1T3	Splice_Site	SNP	ENST00000451493.1	1	1	hg19		CCDS9356.1	1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073779	0.55646	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.69	4.85	0.62838	5.69	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5079	0.67764	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	.	SPG20	35803734	35803734	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.084000	0.76866	1.421000	0.47157	0.561000	0.74099	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000		Intron		50	50		189	185	0		1			0	0	40	0		1	0	0	0	0	0	0	50	189
CCNA1	8900	broad.mit.edu	37	13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000255465.4	+	4	835	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I|CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I			P78396	CCNA1_HUMAN	cyclin A1	191					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)				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)		AGATTCATCTCTCCTCTCCCA	0.393																																						ENST00000255465.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(571-573)Ctc>Atc		cyclin A1							193.0	187.0	189.0					13																	37012230		2203	4300	6503	SO:0001583	missense	8900	0	0					g.chr13:37012230C>A	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.571C>A	chr13.hg19:g.37012230C>A	ENSP00000255465:p.Leu191Ile	0					CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I|CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I	p.L191I			0	0	0	1.903942	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	4	835	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	1	1	hg19	c.571C>A	CCDS9357.1	1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221422	0.09863	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15718	2.45;2.45;2.4;2.4	5.76	1.58	0.23477	5.76	1.58	0.23477	.	1.145020	0.06264	N	0.694418	T	0.12008	0.0292	L	0.33137	0.985	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.19946	0.027;0.016	T	0.40232	-0.9574	10	0.07990	T	0.79	.	6.1055	0.20071	0.1185:0.3557:0.442:0.0838	.	190;191	P78396-2;P78396	.;CCNA1_HUMAN	I	147;147;190;191	ENSP00000400666:L147I;ENSP00000409873:L147I;ENSP00000396479:L190I;ENSP00000255465:L191I	ENSP00000255465:L191I	L	+	1	0	0	CCNA1	35910230	35910230	0.889000	0.30405	0.000000	0.03702	0.004000	0.04260	0.571000	0.23669	-0.054000	0.13266	0.563000	0.77884	CTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_003914			131	129		749	738	1		1			0	0	177	0		1	0	0	0	0	0	0	131	749
CCNA1	8900	broad.mit.edu	37	13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000255465.4	+	6	1333	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M|CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M			P78396	CCNA1_HUMAN	cyclin A1	357					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)				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)		GCGACAAGGAGTGTGCGTCAG	0.458																																						ENST00000255465.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				35						c.(1069-1071)Gtg>Atg		cyclin A1							141.0	138.0	139.0					13																	37014291		2203	4300	6503	SO:0001583	missense	8900	0	0					g.chr13:37014291G>A	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.1069G>A	chr13.hg19:g.37014291G>A	ENSP00000255465:p.Val357Met	0					CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M|CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M	p.V357M			0	0	0	1.903942	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	6	1333	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	1	1	hg19	c.1069G>A	CCDS9357.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594595	0.66219	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.03	6.03	0.97812	6.03	6.03	0.97812	Cyclin, C-terminal (1);Cyclin-like (3);	0.165896	0.53938	D	0.000060	T	0.37999	0.1024	L	0.58354	1.805	0.53688	D	0.999974	P;P	0.40602	0.723;0.588	P;P	0.47915	0.561;0.472	T	0.03394	-1.1041	10	0.54805	T	0.06	.	15.6123	0.76737	0.067:0.0:0.933:0.0	.	356;357	P78396-2;P78396	.;CCNA1_HUMAN	M	313;313;356;357	ENSP00000400666:V313M;ENSP00000409873:V313M;ENSP00000396479:V356M;ENSP00000255465:V357M	ENSP00000255465:V357M	V	+	1	0	0	CCNA1	35912291	35912291	1.000000	0.71417	0.952000	0.39060	0.674000	0.39518	5.364000	0.66110	2.868000	0.98415	0.555000	0.69702	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_003914			76	73		502	496	1		1	0		0	0	123	0		1	1.782302e-02	0	0	0	2	0	76	502
SMAD9	4093	broad.mit.edu	37	13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000399275.2	-	2	578	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y			O15198	SMAD9_HUMAN	SMAD family member 9	147					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)			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)		TATTCACTGTGTCTTGGCACG	0.527																																						ENST00000399275.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				18						c.(439-441)Cac>Tac		SMAD family member 9							97.0	86.0	90.0					13																	37447026		2203	4300	6503	SO:0001583	missense	4093	0	0					g.chr13:37447026G>A		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.439C>T	chr13.hg19:g.37447026G>A	ENSP00000382216:p.His147Tyr	0					SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y	p.H147Y			0	0	0	1.903942	O15198	SMAD9_HUMAN		2	578	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	1	1	hg19	c.439C>T	CCDS45032.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092689	0.56075	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94376	-3.41;-3.4;-3.41	5.24	5.24	0.73138	5.24	5.24	0.73138	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	D	0.88287	0.2940	10	0.29301	T	0.29	.	18.172	0.89749	0.0:0.0:1.0:0.0	.	147;147	O15198-2;O15198	.;SMAD9_HUMAN	Y	147	ENSP00000382216:H147Y;ENSP00000239885:H147Y;ENSP00000369154:H147Y	ENSP00000239885:H147Y	H	-	1	0	0	SMAD9	36345026	36345026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.590000	0.87494	0.563000	0.77884	CAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_005905			38	36		171	166	1		1	0		0	0	25	0		1	3.804724e-01	0	0	0	7	0	38	171
SMAD9	4093	broad.mit.edu	37	13	37453838	37453838	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000399275.2	-	0	128				SMAD9_ENST00000379826.4_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame|SMAD9_ENST00000483941.1_5'UTR			O15198	SMAD9_HUMAN	SMAD family member 9						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)			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)		AGAGGCCACAGCAGGCTCCGG	0.627																																						ENST00000399275.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				18								SMAD family member 9							35.0	39.0	38.0					13																	37453838		2203	4300	6503			4093	0	0					g.chr13:37453838G>T		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		chr13.hg19:g.37453838G>T		0					SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000379826.4_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame				0	0	0	1.903942	O15198	SMAD9_HUMAN		0	128	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	A2A2Y6|O14989|Q5TBA1	Translation_Start_Site	SNP	ENST00000399275.2	0	1	hg19		CCDS45032.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	0	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_005905			60	60		312	306	0		1	0		0	0	44	0		1	6.463808e-01	0	0	0	13	0	60	312
ALG5	29880	broad.mit.edu	37	13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron|EXOSC8_ENST00000389704.3_5'Flank|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					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)			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)		ACCAGTACGAGGGCTGCGGCC	0.701																																						ENST00000239891.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997950	0.990000	1.000000																										0				11						c.(58-60)Ctc>Ttc		ALG5, dolichyl-phosphate beta-glucosyltransferase							17.0	21.0	20.0					13																	37573380		2187	4284	6471	SO:0001583	missense	29880	1	120820	27				g.chr13:37573380G>A	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.58C>T	chr13.hg19:g.37573380G>A	ENSP00000239891:p.Leu20Phe	0					ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron|EXOSC8_ENST00000389704.3_5'Flank	p.L20F	NM_013338.4	NP_037470.1	0	0	0	1.903942	Q9Y673	ALG5_HUMAN		1	124	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	1	1	hg19	c.58C>T	CCDS9361.1	1	.	.	.	.	.	.	.	.	.	.	g	9.080	0.998965	0.19121	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83992	-1.79;-1.21	5.22	3.48	0.39840	5.22	3.48	0.39840	.	0.248451	0.33753	N	0.004583	D	0.84808	0.5554	L	0.49640	1.575	0.45403	D	0.998389	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80491	-0.1359	10	0.10636	T	0.68	.	8.6488	0.34022	0.0816:0.1539:0.7646:0.0	.	20;20	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	20	ENSP00000239891:L20F;ENSP00000389647:L20F	ENSP00000239891:L20F	L	-	1	0	0	ALG5	36471380	36471380	0.197000	0.23362	0.025000	0.17156	0.007000	0.05969	0.743000	0.26231	1.201000	0.43203	-0.215000	0.12644	CTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_013338			27	26		164	163	0		1	1		0	0	27	0		1	9.999941e-01	0	38	0	84	0	27	164
EXOSC8	11340	broad.mit.edu	37	13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378																																						ENST00000389704.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998987	0.990000	1.000000																										0				7						c.(658-660)gGa>gTa		exosome component 8							90.0	82.0	85.0					13																	37582916		2203	4300	6503	SO:0001583	missense	11340	0	0					g.chr13:37582916G>T	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.659G>T	chr13.hg19:g.37582916G>T	ENSP00000374354:p.Gly220Val	0						p.G220V	NM_181503.2	NP_852480.1	0	0	0	1.903942	Q96B26	EXOS8_HUMAN		10	924	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	1	1	hg19	c.659G>T	CCDS31958.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181058	0.78677	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.52526	0.66	5.74	5.74	0.90152	5.74	5.74	0.90152	Exoribonuclease, phosphorolytic domain 2 (2);	0.098049	0.64402	D	0.000001	T	0.75882	0.3910	M	0.91300	3.195	0.80722	D	1	P;D	0.71674	0.858;0.998	P;D	0.67382	0.732;0.951	T	0.79729	-0.1681	10	0.54805	T	0.06	-21.2381	19.9173	0.97066	0.0:0.0:1.0:0.0	.	192;220	Q5JXM0;Q96B26	.;EXOS8_HUMAN	V	220;192	ENSP00000374354:G220V	ENSP00000369137:G192V	G	+	2	0	0	EXOSC8	36480916	36480916	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.849000	0.75414	2.707000	0.92482	0.563000	0.77884	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_181503			31	31		184	181	1		1	1		0	0	43	0		1	9.999928e-01	0	23	0	91	0	31	184
CSNK1A1L	122011	broad.mit.edu	37	13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	144	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)			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)		CCAGTACCCATCAGGAAGTTA	0.408																																						ENST00000379800.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(430-432)Atg>Gtg		casein kinase 1, alpha 1-like							200.0	183.0	189.0					13																	37678964		2203	4300	6503	SO:0001583	missense	122011	0	0					g.chr13:37678964T>C	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.430A>G	chr13.hg19:g.37678964T>C	ENSP00000369126:p.Met144Val	0						p.M144V	NM_145203.5	NP_660204.2	0	0	0	1.903942	Q8N752	KC1AL_HUMAN		1	839	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	1	1	hg19	c.430A>G	CCDS9363.1	1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544521	0.45280	.	.	ENSG00000180138	ENST00000379800	T	0.62232	0.04	1.08	1.08	0.20341	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084250	0.85682	D	0.000000	T	0.61311	0.2337	M	0.64080	1.96	0.42120	D	0.991423	P	0.51147	0.942	P	0.50109	0.631	T	0.62286	-0.6886	10	0.72032	D	0.01	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	144	Q8N752	KC1AL_HUMAN	V	144	ENSP00000369126:M144V	ENSP00000369126:M144V	M	-	1	0	0	CSNK1A1L	36576964	36576964	1.000000	0.71417	0.980000	0.43619	0.882000	0.50991	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	ATG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_145203			98	94		479	469	1		1			0	0	131	0		1	0	0	0	0	0	0	98	479
CSNK1A1L	122011	broad.mit.edu	37	13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	25	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)			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)		AAAGGAGCCAGACCCGATCTT	0.557																																						ENST00000379800.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999403	0.990000	1.000000																										0				37						c.(73-75)tCt>tTt		casein kinase 1, alpha 1-like							133.0	123.0	127.0					13																	37679320		2203	4300	6503	SO:0001583	missense	122011	0	0					g.chr13:37679320G>A	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.74C>T	chr13.hg19:g.37679320G>A	ENSP00000369126:p.Ser25Phe	0						p.S25F	NM_145203.5	NP_660204.2	0	0	0	1.903942	Q8N752	KC1AL_HUMAN		1	483	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	1	1	hg19	c.74C>T	CCDS9363.1	1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454180	0.26161	.	.	ENSG00000180138	ENST00000379800	T	0.68331	-0.32	0.778	0.778	0.18543	0.778	0.778	0.18543	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	0.76371	0.3978	H	0.98646	4.29	0.43137	D	0.994882	B	0.22800	0.075	B	0.27170	0.077	T	0.76203	-0.3045	10	0.87932	D	0	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	25	Q8N752	KC1AL_HUMAN	F	25	ENSP00000369126:S25F	ENSP00000369126:S25F	S	-	2	0	0	CSNK1A1L	36577320	36577320	0.053000	0.20554	0.920000	0.36463	0.996000	0.88848	1.522000	0.35921	0.686000	0.31488	0.561000	0.74099	TCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-19.999710	1	0.170000	NM_145203			62	61		455	444	1		1			0	0	102	0		1	0	0	0	0	0	0	62	455
CSNK1A1L	122011	broad.mit.edu	37	13	37679424	37679424	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679424G>T	ENST00000379800.3	-	0	379					NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like						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)			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)		GCTGGGCTCAGCCCTGACCCC	0.622																																						ENST00000379800.3	1.000000	0.850000	1	9.900000e-01	0.990000	0.989064	0.990000	1.000000																										0				37								casein kinase 1, alpha 1-like							49.0	46.0	47.0					13																	37679424		2203	4300	6503			122011	0	0					g.chr13:37679424G>T	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.-31C>A	chr13.hg19:g.37679424G>T		0							NM_145203.5	NP_660204.2	0	0	0	1.903942	Q8N752	KC1AL_HUMAN		0	379	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	Q5T2N2	Translation_Start_Site	SNP	ENST00000379800.3	0	1	hg19		CCDS9363.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_145203			27	26		208	208	0		1			0	0	68	0		1	0	0	0	0	0	0	27	208
POSTN	10631	broad.mit.edu	37	13	38138654	38138654	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATACACTTACCTTGAACTT	0.318																																						ENST00000379747.4	0.580000	0.170000	4.600000e-01	2.500000e-01	0.340000	0.360446	0.340000	0.330000																										0				59						c.e22+1		periostin, osteoblast specific factor							177.0	160.0	166.0					13																	38138654		2203	4299	6502	SO:0001630	splice_region_variant	10631	0	0					g.chr13:38138654A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2473+1T>C	chr13.hg19:g.38138654A>G		0					POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site		NM_006475.2	NP_006466.2	0	0	0	1.903942	Q15063	POSTN_HUMAN		22	2591	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	1	1	hg19		CCDS9364.1	0	.	.	.	.	.	.	.	.	.	.	A	6.781	0.513056	0.12944	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	2.84	0.33178	5.32	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.269	0.26246	0.7765:0.1462:0.0773:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	POSTN	37036654	37036654	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.135000	0.50546	0.403000	0.25479	0.454000	0.30748	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-10.571830	1	0.170000	NM_006475	Intron		10	10		323	313	0		1			0	0	80	0		9.964932e-01	0	0	0	0	0	0	10	323
POSTN	10631	broad.mit.edu	37	13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T	rs200308301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0					ENST00000379747.4	1.000000	0.720000	1	8.100000e-01	0.910000	0.907753	0.910000	1.000000																										0				59						c.(1522-1524)cGc>cAc		periostin, osteoblast specific factor							271.0	260.0	264.0					13																	38154704		2203	4300	6503	SO:0001583	missense	10631	1	121412	33				g.chr13:38154704C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1523G>A	chr13.hg19:g.38154704C>T	ENSP00000369071:p.Arg508His	0					POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H	p.R508H	NM_006475.2	NP_006466.2	0	0	0	1.903942	Q15063	POSTN_HUMAN		11	1640	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	1	1	hg19	c.1523G>A	CCDS9364.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.551710	0.86127	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.96210	0.8764	M	0.80183	2.485	0.45066	D	0.998089	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;0.998;0.993;0.998;0.995;0.975;0.993	D	0.96451	0.9334	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:1.0:0.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	508	ENSP00000437959:R508H;ENSP00000369073:R508H;ENSP00000369071:R508H;ENSP00000369067:R508H;ENSP00000369066:R508H;ENSP00000437953:R508H	ENSP00000369066:R508H	R	-	2	0	0	POSTN	37052704	37052704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.236000	0.65354	2.472000	0.83506	0.557000	0.71058	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	1	0	0		2	2	2	0		0	0	148		148	144	1	2.060000	-16.298330	1	0.170000	NM_006475			71	70		795	780	0		1	0		0	0	148	0		1	1	0	0	0	712	0	71	795
POSTN	10631	broad.mit.edu	37	13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453																																						ENST00000379747.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				59						c.(784-786)Gcc>Acc		periostin, osteoblast specific factor							106.0	92.0	97.0					13																	38160387		2203	4300	6503	SO:0001583	missense	10631	0	0					g.chr13:38160387C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.784G>A	chr13.hg19:g.38160387C>T	ENSP00000369071:p.Ala262Thr	0					POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T	p.A262T	NM_006475.2	NP_006466.2	0	0	0	1.903942	Q15063	POSTN_HUMAN		7	901	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	1	1	hg19	c.784G>A	CCDS9364.1	1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500245	0.04291	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.67	-11.3	0.00108	5.67	-11.3	0.00108	FAS1 domain (4);	0.942284	0.09131	N	0.844389	T	0.55705	0.1937	N	0.00602	-1.34	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.007;0.002;0.002;0.004;0.001;0.002	T	0.52601	-0.8554	10	0.02654	T	1	.	7.6951	0.28590	0.4374:0.1388:0.0:0.4238	.	262;262;262;262;262;262;262	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	262;262;262;262;262;262;179	ENSP00000437959:A262T;ENSP00000369073:A262T;ENSP00000369071:A262T;ENSP00000369067:A262T;ENSP00000369066:A262T;ENSP00000437953:A262T	ENSP00000369066:A262T	A	-	1	0	0	POSTN	37058387	37058387	0.000000	0.05858	0.017000	0.16124	0.496000	0.33645	-0.702000	0.05069	-3.501000	0.00151	-0.169000	0.13324	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.397870	1	0.170000	NM_006475			56	56		260	256	1		1	0		0	0	81	0		1	1	0	0	0	458	0	56	260
TRPC4	7223	broad.mit.edu	37	13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	363					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458																																						ENST00000379705.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999881	0.990000	1.000000																										0				83						c.(1087-1089)Ttt>Gtt		transient receptor potential cation channel, subfamily C, member 4							119.0	115.0	116.0					13																	38266283		2203	4300	6503	SO:0001583	missense	7223	0	0					g.chr13:38266283A>C	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.1087T>G	chr13.hg19:g.38266283A>C	ENSP00000369027:p.Phe363Val	0					TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V	p.F363V			0	0	0	1.903942	Q9UBN4	TRPC4_HUMAN		4	1944	-			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	1	1	hg19	c.1087T>G	CCDS9365.1	1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509677	0.85282	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.989;0.999;0.968;0.994	D;D;D;D;P;D	0.76071	0.967;0.976;0.979;0.987;0.889;0.947	T	0.75013	-0.3467	10	0.54805	T	0.06	-20.5245	15.5786	0.76414	1.0:0.0:0.0:0.0	.	363;363;363;190;363;363	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	363;363;190;190;363;363;363;363;363	ENSP00000369027:F363V;ENSP00000369003:F363V;ENSP00000342580:F190V;ENSP00000369001:F190V;ENSP00000410133:F363V;ENSP00000348025:F363V;ENSP00000351264:F363V;ENSP00000368995:F363V;ENSP00000414316:F363V	ENSP00000342580:F190V	F	-	1	0	0	TRPC4	37164283	37164283	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.172000	0.94808	2.130000	0.65690	0.383000	0.25322	TTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-19.906150	1	0.170000	NM_003306			39	38		206	201	1		1	0		0	0	45	0		1	9.087769e-01	0	0	0	24	0	39	206
UFM1	51569	broad.mit.edu	37	13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379641.1_5'Flank|UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567																																						ENST00000239878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(4-6)tCg>tTg		ubiquitin-fold modifier 1							148.0	136.0	140.0					13																	38924138		2203	4300	6503	SO:0001583	missense	51569	0	0					g.chr13:38924138C>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.5C>T	chr13.hg19:g.38924138C>T	ENSP00000239878:p.Ser2Leu	0					UFM1_ENST00000379649.1_5'UTR|UFM1_ENST00000379641.1_5'Flank	p.S2L	NM_016617.2	NP_057701.1	0	0	0	1.903942	P61960	UFM1_HUMAN		2	44	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Missense_Mutation	SNP	ENST00000239878.4	1	1	hg19	c.5C>T	CCDS9366.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224134	0.79576	.	.	ENSG00000120686	ENST00000239878	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	D;P	0.55800	0.973;0.843	P;B	0.44561	0.453;0.254	T	0.63220	-0.6686	7	0.87932	D	0	.	13.9271	0.63968	0.0:1.0:0.0:0.0	.	2;2	Q5VXS2;P61960	.;UFM1_HUMAN	L	2	.	ENSP00000239878:S2L	S	+	2	0	0	UFM1	37822138	37822138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.923000	0.63412	2.648000	0.89879	0.655000	0.94253	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_016617			138	137		533	522	1		1	1		0	0	142	0		1	1	0	80	0	257	0	138	533
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A	rs201675703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					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.R273H(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)		GCCGCCAGTCGCTCACCAAAC	0.622																																						ENST00000280481.7	1.000000	0.690000	1	8.000000e-01	0.930000	0.915204	0.930000	1.000000																										1	Substitution - Missense(1)	p.R273H(1)	large_intestine(1)	148						c.(817-819)cGc>cAc		FRAS1 related extracellular matrix protein 2							57.0	60.0	59.0					13																	39262299		2202	4299	6501	SO:0001583	missense	341640	2	121410	39				g.chr13:39262299G>A	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.818G>A	chr13.hg19:g.39262299G>A	ENSP00000280481:p.Arg273His	0						p.R273H	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	1034	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.818G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	0	FREM2	38160299	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0		2	2	2	0		0	0	120		120	115	1	2.060000	-12.388340	1	0.170000	NM_207361			46	45		502	496	1		1	1		0	0	120	0		1	3.064699e-01	0	7	0	6	0	46	502
FREM2	341640	broad.mit.edu	37	13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	285					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(853-855)gaG>gaT		FRAS1 related extracellular matrix protein 2							59.0	58.0	58.0					13																	39262336		2203	4300	6503	SO:0001583	missense	341640	0	0					g.chr13:39262336G>T	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.855G>T	chr13.hg19:g.39262336G>T	ENSP00000280481:p.Glu285Asp	0						p.E285D	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	1071	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.855G>T	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526850	0.64860	.	.	ENSG00000150893	ENST00000280481	T	0.20881	2.04	5.94	4.22	0.49857	5.94	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.02009	-1.1230	10	0.44086	T	0.13	.	12.566	0.56310	0.1343:0.0:0.8657:0.0	.	285	Q5SZK8	FREM2_HUMAN	D	285	ENSP00000280481:E285D	ENSP00000280481:E285D	E	+	3	2	2	FREM2	38160336	38160336	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.943000	0.49026	0.856000	0.35383	0.561000	0.74099	GAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_207361			77	77		376	372	1		1	1		0	0	91	0		1	5.299292e-01	0	4	0	6	0	77	376
FREM2	341640	broad.mit.edu	37	13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A	rs533045176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	443					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.R443Q(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)		GTGGTCACCCGGAATACCGGT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17008	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R443Q(1)	large_intestine(1)	148						c.(1327-1329)cGg>cAg		FRAS1 related extracellular matrix protein 2							63.0	71.0	68.0					13																	39262809		2203	4300	6503	SO:0001583	missense	341640	1	121412	30				g.chr13:39262809G>A	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.1328G>A	chr13.hg19:g.39262809G>A	ENSP00000280481:p.Arg443Gln	0						p.R443Q	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	1544	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.1328G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667568	0.67814	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.055642	0.64402	D	0.000002	T	0.22166	0.0534	L	0.39633	1.23	0.58432	D	0.999996	D	0.58620	0.983	P	0.45232	0.474	T	0.00745	-1.1584	10	0.30078	T	0.28	.	15.5538	0.76173	0.0:0.0:0.8615:0.1385	.	443	Q5SZK8	FREM2_HUMAN	Q	443	ENSP00000280481:R443Q	ENSP00000280481:R443Q	R	+	2	0	0	FREM2	38160809	38160809	0.828000	0.29307	0.999000	0.59377	0.971000	0.66376	3.651000	0.54431	2.724000	0.93272	0.561000	0.74099	CGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.797947	1	0.170000	NM_207361			80	80		354	350	1		1	1		0	0	58	0		1	5.166514e-01	0	5	0	4	0	80	354
FREM2	341640	broad.mit.edu	37	13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	535					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587																																						ENST00000280481.7	1.000000	0.870000	1	9.900000e-01	0.990000	0.992515	0.990000	1.000000																										0				148						c.(1603-1605)cGc>cAc		FRAS1 related extracellular matrix protein 2							48.0	38.0	42.0					13																	39263085		2203	4300	6503	SO:0001583	missense	341640	0	0					g.chr13:39263085G>A	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.1604G>A	chr13.hg19:g.39263085G>A	ENSP00000280481:p.Arg535His	0						p.R535H	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	1820	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	0	1	hg19	c.1604G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120862	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	4.54	0.55810	5.4	4.54	0.55810	.	0.055337	0.64402	D	0.000001	D	0.86138	0.5861	M	0.85630	2.765	0.80722	D	1	D	0.64830	0.994	P	0.54856	0.762	D	0.88654	0.3184	10	0.72032	D	0.01	.	15.4664	0.75403	0.0:0.0:0.8601:0.1399	.	535	Q5SZK8	FREM2_HUMAN	H	535	ENSP00000280481:R535H	ENSP00000280481:R535H	R	+	2	0	0	FREM2	38161085	38161085	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.443000	0.52907	1.267000	0.44247	0.561000	0.74099	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_207361			18	18		110	108	1		1	1		0	0	22	0		9.999869e-01	2.738900e-01	0	2	0	5	0	18	110
FREM2	341640	broad.mit.edu	37	13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				148						c.(2059-2061)caG>caT		FRAS1 related extracellular matrix protein 2							85.0	84.0	84.0					13																	39263542		2203	4300	6503	SO:0001583	missense	341640	0	0					g.chr13:39263542G>T	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.2061G>T	chr13.hg19:g.39263542G>T	ENSP00000280481:p.Gln687His	0						p.Q687H	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	2277	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.2061G>T	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108269	0.01813	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.97	0.709	0.18150	5.97	0.709	0.18150	.	0.217752	0.49916	N	0.000137	T	0.12135	0.0295	N	0.26042	0.785	0.22754	N	0.998775	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	10	0.06099	T	0.92	.	7.0458	0.25044	0.2654:0.2226:0.512:0.0	.	687	Q5SZK8	FREM2_HUMAN	H	687	ENSP00000280481:Q687H	ENSP00000280481:Q687H	Q	+	3	2	2	FREM2	38161542	38161542	0.899000	0.30636	0.853000	0.33588	0.926000	0.56050	1.122000	0.31295	0.136000	0.18733	0.655000	0.94253	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_207361			72	70		423	412	1		1	1		0	0	101	0		1	7.856987e-01	0	8	0	11	0	72	423
FREM2	341640	broad.mit.edu	37	13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A	rs367642497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	692					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				148						c.(2074-2076)cGt>cAt		FRAS1 related extracellular matrix protein 2		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	83.0	81.0	81.0		2075	6.0	1.0	13		81	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	692/3170	39263556	2,13004	2203	4300	6503	SO:0001583	missense	341640	4	121412	39				g.chr13:39263556G>A	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.2075G>A	chr13.hg19:g.39263556G>A	ENSP00000280481:p.Arg692His	0						p.R692H	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	2291	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.2075G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722443	0.48728	4.54E-4	0.0	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.066368	0.64402	D	0.000002	T	0.31451	0.0797	L	0.35593	1.075	0.09310	N	0.999999	D	0.64830	0.994	P	0.53006	0.715	T	0.19778	-1.0295	10	0.20046	T	0.44	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	692	Q5SZK8	FREM2_HUMAN	H	692	ENSP00000280481:R692H	ENSP00000280481:R692H	R	+	2	0	0	FREM2	38161556	38161556	0.571000	0.26659	0.975000	0.42487	0.969000	0.65631	3.169000	0.50809	2.837000	0.97791	0.655000	0.94253	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0		17	3	2	1		1	1	92		92	90	1	2.060000	-20.000000	1	0.170000	NM_207361			62	60		393	382	1		1	1		1	0	92	0		1	7.077988e-01	0	13	0	13	0	62	393
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				148						c.(2557-2559)caC>caT		FRAS1 related extracellular matrix protein 2							116.0	107.0	110.0					13																	39264040		2203	4300	6503	SO:0001819	synonymous_variant	341640	6	121412	36				g.chr13:39264040C>T	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.2559C>T	chr13.hg19:g.39264040C>T		0						p.H853H	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	2775	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	1	1	hg19	c.2559C>T	CCDS31960.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_207361			50	50		218	211	1		1	1		0	0	70	0		1	3.918216e-01	0	3	0	4	0	50	218
FREM2	341640	broad.mit.edu	37	13	39264502	39264502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1007					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				148						c.(3019-3021)agG>agA		FRAS1 related extracellular matrix protein 2							140.0	143.0	142.0					13																	39264502		2203	4300	6503	SO:0001819	synonymous_variant	341640	0	0					g.chr13:39264502G>A	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.3021G>A	chr13.hg19:g.39264502G>A		0						p.R1007R	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	3237	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	1	1	hg19	c.3021G>A	CCDS31960.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		16	2	2	0		0	1	139		139	138	1	2.060000	-2.966616	1	0.170000	NM_207361			81	81		525	513	0		1	1		0	0	139	0		1	6.514378e-01	0	10	0	6	0	81	525
FREM2	341640	broad.mit.edu	37	13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1129					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463																																						ENST00000280481.7	1.000000	0.670000	1	8.200000e-01	0.990000	0.933064	0.990000	1.000000																										0				148						c.(3385-3387)Gca>Aca		FRAS1 related extracellular matrix protein 2							62.0	63.0	63.0					13																	39264866		2203	4300	6503	SO:0001583	missense	341640	0	0					g.chr13:39264866G>A	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.3385G>A	chr13.hg19:g.39264866G>A	ENSP00000280481:p.Ala1129Thr	0						p.A1129T	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	3601	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.3385G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621270	0.46736	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.07	5.23	0.72850	6.07	5.23	0.72850	.	0.104847	0.64402	N	0.000003	T	0.48077	0.1480	M	0.64997	1.995	0.58432	D	0.999998	P	0.52316	0.952	P	0.52598	0.703	T	0.41645	-0.9497	10	0.31617	T	0.26	.	15.2394	0.73455	0.0668:0.0:0.9332:0.0	.	1129	Q5SZK8	FREM2_HUMAN	T	1129	ENSP00000280481:A1129T	ENSP00000280481:A1129T	A	+	1	0	0	FREM2	38162866	38162866	0.982000	0.34865	1.000000	0.80357	0.961000	0.63080	1.718000	0.38001	1.588000	0.49971	0.650000	0.86243	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_207361			25	24		252	252	1		1	1		0	0	67	0		9.999999e-01	5.860751e-01	0	8	0	13	0	25	252
FREM2	341640	broad.mit.edu	37	13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1198					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(3592-3594)tTt>tGt		FRAS1 related extracellular matrix protein 2							249.0	237.0	241.0					13																	39265074		2203	4300	6503	SO:0001583	missense	341640	0	0					g.chr13:39265074T>G	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.3593T>G	chr13.hg19:g.39265074T>G	ENSP00000280481:p.Phe1198Cys	0						p.F1198C	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		1	3809	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.3593T>G	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452837	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.51325	0.71	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.77973	-0.2386	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1198	Q5SZK8	FREM2_HUMAN	C	1198	ENSP00000280481:F1198C	ENSP00000280481:F1198C	F	+	2	0	0	FREM2	38163074	38163074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.333000	0.79357	0.533000	0.62120	TTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	198		198	198	1	2.060000	-20.000000	1	0.170000	NM_207361			231	228		982	964	1		1	1		0	0	198	0		1	8.824142e-01	0	11	0	7	0	231	982
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	rs548177107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1893I(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)		CAAATACTCCGTTGAAGAAGA	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		15518	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V1893I(1)	prostate(1)	148						c.(5677-5679)Gtt>Att		FRAS1 related extracellular matrix protein 2							205.0	195.0	198.0					13																	39357242		2203	4300	6503	SO:0001583	missense	341640	5	121412	45				g.chr13:39357242G>A	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.5677G>A	chr13.hg19:g.39357242G>A	ENSP00000280481:p.Val1893Ile	0						p.V1893I	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		5	5893	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	1	1	hg19	c.5677G>A	CCDS31960.1	1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	0	FREM2	38255242	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	122		122	119	1	2.060000	-20.000000	1	0.170000	NM_207361			136	132		524	518	1		1	1		0	0	122	0		1	9.640132e-01	0	12	0	11	0	136	524
FREM2	341640	broad.mit.edu	37	13	39448647	39448647	+	Silent	SNP	C	C	T	rs374308184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2735					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				148						c.(8203-8205)atC>atT		FRAS1 related extracellular matrix protein 2		T		1,4405	2.1+/-5.4	0,1,2202	180.0	160.0	167.0		8205	-2.5	0.0	13		167	0,8600		0,0,4300	no	coding-synonymous	FREM2	NM_207361.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2735/3170	39448647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341640	2	121412	33				g.chr13:39448647C>T	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.8205C>T	chr13.hg19:g.39448647C>T		0						p.I2735I	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		18	8421	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	1	1	hg19	c.8205C>T	CCDS31960.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_207361			68	66		411	403	0		1	1		0	0	97	0		1	7.726068e-01	0	9	0	10	0	68	411
FREM2	341640	broad.mit.edu	37	13	39450468	39450468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2831					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483																																						ENST00000280481.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(8491-8493)acC>acT		FRAS1 related extracellular matrix protein 2							125.0	105.0	112.0					13																	39450468		2203	4300	6503	SO:0001819	synonymous_variant	341640	0	0					g.chr13:39450468C>T	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.8493C>T	chr13.hg19:g.39450468C>T		0						p.T2831T	NM_207361.4	NP_997244.3	0	0	0	1.903942	Q5SZK8	FREM2_HUMAN		20	8709	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	1	1	hg19	c.8493C>T	CCDS31960.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-3.314470	1	0.170000	NM_207361			75	74		337	327	1		1	1		0	0	95	0		1	9.873566e-01	0	17	0	16	0	75	337
STOML3	161003	broad.mit.edu	37	13	39541021	39541021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	273					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				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)		ATGCCCTCTAGTATATTCATG	0.498																																						ENST00000379631.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(817-819)Cta>Tta		stomatin (EPB72)-like 3							98.0	95.0	96.0					13																	39541021		2203	4300	6503	SO:0001819	synonymous_variant	161003	0	0					g.chr13:39541021G>A	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.817C>T	chr13.hg19:g.39541021G>A		0					STOML3_ENST00000423210.1_Silent_p.L264L	p.L273L	NM_145286.2	NP_660329.1	0	0	0	1.903942	Q8TAV4	STML3_HUMAN		7	1161	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	1	1	hg19	c.817C>T	CCDS9367.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2	0	0	1		17	2	2	1		1	1	80		80	80	1	2.060000	-3.334771	1	0.170000				69	68		350	343	1		1			1	0	80	0		1	0	0	0	0	0	0	69	350
NHLRC3	387921	broad.mit.edu	37	13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000379600.3	+	7	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	292						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483																																						ENST00000379600.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				11						c.(874-876)aGc>aTc		NHL repeat containing 3							76.0	73.0	74.0					13																	39621894		2203	4300	6503	SO:0001583	missense	387921	0	0					g.chr13:39621894G>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.875G>T	chr13.hg19:g.39621894G>T	ENSP00000368920:p.Ser292Ile	0					NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	p.S292I	NM_001012754.3	NP_001012772.1	0	0	0	1.903942	Q5JS37	NHLC3_HUMAN		7	1197	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	1	1	hg19	c.875G>T	CCDS31961.1	1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584687	0.13749	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.65364	-0.12;-0.15;-0.09	5.46	-1.72	0.08107	5.46	-1.72	0.08107	Six-bladed beta-propeller, TolB-like (1);	0.843236	0.11418	N	0.566115	T	0.44435	0.1293	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27625	0.183;0.138	B;B	0.24541	0.039;0.054	T	0.27054	-1.0085	9	.	.	.	-0.0242	1.6697	0.02809	0.3817:0.2268:0.277:0.1146	.	225;292	B4DTL0;Q5JS37	.;NHLC3_HUMAN	I	95;292;225	ENSP00000418127:S95I;ENSP00000368920:S292I;ENSP00000368919:S225I	.	S	+	2	0	0	NHLRC3	38519894	38519894	0.001000	0.12720	0.102000	0.21198	0.486000	0.33341	0.046000	0.14035	-0.188000	0.10499	0.563000	0.77884	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_001012754			38	36		189	187	1		1	1		0	0	57	0		1	9.999855e-01	0	21	0	67	0	38	189
COG6	57511	broad.mit.edu	37	13	40235011	40235011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:40235011G>A	ENST00000455146.3	+	3	412	c.362G>A	c.(361-363)cGc>cAc	p.R121H	COG6_ENST00000416691.1_Missense_Mutation_p.R121H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	121					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				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)		ATGACAAGTCGCCTACAGGTA	0.313																																						ENST00000455146.3	0.590000	0.150000	4.600000e-01	2.300000e-01	0.330000	0.352624	0.330000	0.320000																										0				13						c.(361-363)cGc>cAc		component of oligomeric golgi complex 6							94.0	92.0	93.0					13																	40235011		2203	4299	6502	SO:0001583	missense	57511	8	121410	38				g.chr13:40235011G>A	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.362G>A	chr13.hg19:g.40235011G>A	ENSP00000397441:p.Arg121His	0					COG6_ENST00000416691.1_Missense_Mutation_p.R121H	p.R121H	NM_020751.2	NP_065802.1	0	0	0	1.903942	Q9Y2V7	COG6_HUMAN		3	412	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	0	1	hg19	c.362G>A	CCDS9370.1	0	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557490	0.27827	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.93	0.45458	5.65	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39147	1.195	0.80722	D	1	P;B	0.43024	0.798;0.3	B;B	0.36608	0.229;0.066	T	0.09250	-1.0683	10	0.17369	T	0.5	-8.4541	11.09	0.48110	0.1504:0.0:0.8496:0.0	.	142;121	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	121;152;121;121	ENSP00000403733:R121H;ENSP00000412877:R121H;ENSP00000397441:R121H	ENSP00000255468:R152H	R	+	2	0	0	COG6	39133011	39133011	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	7.110000	0.77069	0.745000	0.32763	0.655000	0.94253	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.417253	1	0.170000				8	8		269	266	0		1	0		0	0	49	0		9.891801e-01	7.425332e-01	0	1	0	88	0	8	269
MRPS31	10240	broad.mit.edu	37	13	41303685	41303685	+	Silent	SNP	G	G	A	rs77896392	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41303685G>A	ENST00000323563.6	-	7	1047	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	MRPS31_ENST00000498078.1_5'UTR|MIR320D1_ENST00000390157.2_RNA	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	337						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		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;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		AGCTCTCCAGGTGTTTCTCCA	0.363													G|||	110	0.0219649	0.0741	0.0173	5008	,	,		14056	0.0		0.0	False		,,,				2504	0.0					ENST00000323563.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999623	0.990000	1.000000																										0				13						c.(1009-1011)caC>caT		mitochondrial ribosomal protein S31		G		237,4169	139.6+/-175.2	11,215,1977	50.0	50.0	50.0		1011	3.9	1.0	13	dbSNP_132	50	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MRPS31	NM_005830.3		11,224,6268	AA,AG,GG		0.1047,5.379,1.8914		337/396	41303685	246,12760	2203	4300	6503	SO:0001819	synonymous_variant	10240	780	121412	59				g.chr13:41303685G>A	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.1011C>T	chr13.hg19:g.41303685G>A		0					MIR320D1_ENST00000390157.2_RNA|MRPS31_ENST00000498078.1_5'UTR	p.H337H	NM_005830.3	NP_005821.2	0	0	0	1.903942	Q92665	RT31_HUMAN		7	1047	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	B2RCS3|Q5VYC8|Q8WTV8	Silent	SNP	ENST00000323563.6	1	0	hg19	c.1011C>T	CCDS9372.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.542690	1	0.170000				36	35		206	199	1		1	1		0	0	48	0		1	9.976455e-01	0	9	0	47	0	36	206
MRPS31	10240	broad.mit.edu	37	13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	118						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		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;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378																																						ENST00000323563.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(352-354)Aca>Gca		mitochondrial ribosomal protein S31							151.0	141.0	144.0					13																	41340970		2203	4300	6503	SO:0001583	missense	10240	0	0					g.chr13:41340970T>C	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.352A>G	chr13.hg19:g.41340970T>C	ENSP00000315397:p.Thr118Ala	0						p.T118A	NM_005830.3	NP_005821.2	0	0	0	1.903942	Q92665	RT31_HUMAN		2	388	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	1	1	hg19	c.352A>G	CCDS9372.1	1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754169	0.31046	.	.	ENSG00000102738	ENST00000323563	T	0.28895	1.59	4.54	-1.16	0.09678	4.54	-1.16	0.09678	.	0.515963	0.19542	N	0.111773	T	0.24851	0.0603	M	0.65320	2	0.18873	N	0.999985	P	0.44578	0.838	P	0.45099	0.469	T	0.09443	-1.0674	10	0.28530	T	0.3	.	0.5079	0.00590	0.174:0.205:0.1801:0.4409	.	118	Q92665	RT31_HUMAN	A	118	ENSP00000315397:T118A	ENSP00000315397:T118A	T	-	1	0	0	MRPS31	40238970	40238970	0.860000	0.29831	0.985000	0.45067	0.306000	0.27790	0.304000	0.19228	0.189000	0.20188	-0.360000	0.07572	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000				90	88		444	434	1		1	1		0	0	94	0		1	9.999997e-01	0	29	0	77	0	90	444
ELF1	1997	broad.mit.edu	37	13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					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.A491V(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)		AGGAGAGCCCGCCTTTTGTGA	0.483																																						ENST00000239882.3	0.590000	0.270000	5.100000e-01	3.400000e-01	0.410000	0.429718	0.410000	0.410000																										1	Substitution - Missense(1)	p.A491V(1)	large_intestine(1)	37						c.(1471-1473)gCg>gTg		E74-like factor 1 (ets domain transcription factor)							127.0	135.0	132.0					13																	41507949		2203	4300	6503	SO:0001583	missense	1997	3	121412	40				g.chr13:41507949G>A	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.1472C>T	chr13.hg19:g.41507949G>A	ENSP00000239882:p.Ala491Val	0					ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	p.A491V	NM_172373.3	NP_758961.1	0	0	0	1.903942	P32519	ELF1_HUMAN		9	1786	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	1	1	hg19	c.1472C>T	CCDS9374.1	0	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	0	ELF1	40405949	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	0	0	1		2	2	2	0		0	0	141		141	139	1	2.060000	-3.468479	1	0.170000	NM_172373			24	23		619	609	0		1	1		0	0	141	0		9.999996e-01	9.995506e-01	0	12	0	297	0	24	619
WBP4	11193	broad.mit.edu	37	13	41646932	41646932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	167	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358																																						ENST00000379487.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993649	0.990000	1.000000																										0				12						c.(499-501)acC>acT		WW domain binding protein 4							137.0	138.0	138.0					13																	41646932		2203	4300	6503	SO:0001819	synonymous_variant	11193	2	121412	37				g.chr13:41646932C>T	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.501C>T	chr13.hg19:g.41646932C>T		0					WBP4_ENST00000542082.1_Silent_p.T146T	p.T167T	NM_007187.3	NP_009118.1	0	0	0	1.903942	O75554	WBP4_HUMAN		7	901	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	1	1	hg19	c.501C>T	CCDS9375.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.329789	0	0.170000	NM_007187			44	41		357	347	1		1	1		0	0	74	0		1	9.958742e-01	0	14	0	56	0	44	357
MTRF1	9617	broad.mit.edu	37	13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	409					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			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)		CACATAAAAATTCCTGGTAAA	0.333																																						ENST00000379480.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1225-1227)gaA>gaT		mitochondrial translational release factor 1							52.0	56.0	55.0					13																	41791362		2203	4300	6503	SO:0001583	missense	9617	0	0					g.chr13:41791362T>A	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.1227A>T	chr13.hg19:g.41791362T>A	ENSP00000368793:p.Glu409Asp	0					MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I|MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D	p.E409D	NM_004294.2	NP_004285.2	0	0	0	1.903942	O75570	RF1M_HUMAN		10	1327	-		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)	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	1	1	hg19	c.1227A>T	CCDS9378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.66|12.66	2.005756|2.005756	0.35415|0.35415	.|.	.|.	ENSG00000120662|ENSG00000120662	ENST00000379480;ENST00000379477|ENST00000430347	T;T|T	0.11063|0.10668	2.81;2.81|2.85	5.48|5.48	3.01|3.01	0.34805|0.34805	5.48|5.48	3.01|3.01	0.34805|0.34805	.|.	0.219776|.	0.45867|.	N|.	0.000340|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|B	0.36282|0.18013	0.546|0.025	B|B	0.31016|0.14578	0.123|0.011	T|T	0.07770|0.07770	-1.0755|-1.0755	10|9	0.44086|0.41790	T|T	0.13|0.15	-7.3071|-7.3071	5.4177|5.4177	0.16384|0.16384	0.1565:0.0858:0.0:0.7577|0.1565:0.0858:0.0:0.7577	.|.	409|458	O75570|B4DG01	RF1M_HUMAN|.	D|I	409|458	ENSP00000368793:E409D;ENSP00000368790:E409D|ENSP00000400031:N458I	ENSP00000368790:E409D|ENSP00000400031:N458I	E|N	-|-	3|2	2|0	2|0	MTRF1|MTRF1	40689362|40689362	40689362|40689362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.565000|0.565000	0.35776|0.35776	1.845000|1.845000	0.39279|0.39279	0.871000|0.871000	0.35750|0.35750	0.533000|0.533000	0.62120|0.62120	GAA|AAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_004294			57	56		261	258	1		1	1		0	0	73	0		1	9.567234e-01	0	4	0	22	0	57	261
NAA16	79612	broad.mit.edu	37	13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H|NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	196					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)			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						TATTATACCAGAATCAAGTGA	0.284																																						ENST00000379406.3	1.000000	0.700000	1	8.700000e-01	0.990000	0.954452	0.990000	1.000000																										0				31						c.(586-588)caG>caT		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							57.0	64.0	61.0					13																	41899884		2203	4299	6502	SO:0001583	missense	79612	0	0					g.chr13:41899884G>T	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.588G>T	chr13.hg19:g.41899884G>T	ENSP00000368716:p.Gln196His	0					NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	p.Q196H	NM_024561.4	NP_078837.3	0	0	0	1.903942	Q6N069	NAA16_HUMAN		6	912	+			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	1	1	hg19	c.588G>T	CCDS9379.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540615	0.65085	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.56863	0.2014	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.81914	0.995;0.967;0.986	T	0.52540	-0.8562	10	0.35671	T	0.21	-7.1618	14.0039	0.64451	0.0756:0.0:0.9244:0.0	.	196;196;196	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	H	196	ENSP00000368674:Q196H;ENSP00000368716:Q196H;ENSP00000386103:Q196H	ENSP00000368674:Q196H	Q	+	3	2	2	NAA16	40797884	40797884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.847000	0.48270	2.418000	0.82041	0.557000	0.71058	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.075761	1	0.170000	NM_018527			23	23		214	211	1		1	1		0	0	55	0		9.999995e-01	7.860705e-01	0	3	0	25	0	23	214
AKAP11	11215	broad.mit.edu	37	13	42876137	42876137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1085					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			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)		GTTTGCATGTGGAAGATAAAC	0.428																																						ENST00000025301.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3253-3255)gtG>gtA		A kinase (PRKA) anchor protein 11							135.0	129.0	131.0					13																	42876137		2203	4300	6503	SO:0001819	synonymous_variant	11215	0	0					g.chr13:42876137G>A	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.3255G>A	chr13.hg19:g.42876137G>A		0						p.V1085V	NM_016248.3	NP_057332.1	0	0	0	1.903942	Q9UKA4	AKA11_HUMAN		8	3430	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	1	1	hg19	c.3255G>A	CCDS9383.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.080312	1	0.170000	NM_016248			87	85		346	341	1		1	1		0	0	79	0		1	9.999985e-01	0	23	0	56	0	87	346
AKAP11	11215	broad.mit.edu	37	13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1383					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			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)		ATTACAGGAAGCAGCTAAGAC	0.388																																						ENST00000025301.2	0.610000	0.180000	4.900000e-01	2.600000e-01	0.360000	0.382824	0.360000	0.350000																										0				56						c.(4147-4149)Gca>Aca		A kinase (PRKA) anchor protein 11							74.0	70.0	71.0					13																	42877029		2203	4300	6503	SO:0001583	missense	11215	1	121412	28				g.chr13:42877029G>A	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.4147G>A	chr13.hg19:g.42877029G>A	ENSP00000025301:p.Ala1383Thr	0						p.A1383T	NM_016248.3	NP_057332.1	0	0	0	1.903942	Q9UKA4	AKA11_HUMAN		8	4322	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	1	1	hg19	c.4147G>A	CCDS9383.1	0	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989871	0.93106	.	.	ENSG00000023516	ENST00000025301	T	0.60920	0.15	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1383	Q9UKA4	AKA11_HUMAN	T	1383	ENSP00000025301:A1383T	ENSP00000025301:A1383T	A	+	1	0	0	AKAP11	41775029	41775029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.368000	0.97152	2.937000	0.99478	0.650000	0.86243	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-10.798480	1	0.170000	NM_016248			10	10		303	299	0		1	1		0	0	55	0		9.968012e-01	8.953194e-01	0	8	0	115	0	10	303
TNFSF11	8600	broad.mit.edu	37	13	43148613	43148613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000544862.1_5'UTR			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	58					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TGGGGCTGGGCCAGGTTGTCT	0.721																																						ENST00000239849.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999086	0.990000	1.000000																										0				10						c.(172-174)ggC>ggT		tumor necrosis factor (ligand) superfamily, member 11	Denosumab(DB06643)|Lenalidomide(DB00480)						15.0	17.0	16.0					13																	43148613		1825	3472	5297	SO:0001819	synonymous_variant	8600	0	0					g.chr13:43148613C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.174C>T	chr13.hg19:g.43148613C>T		0					TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_5'UTR	p.G58G			0	0	0	1.903942	O14788	TNF11_HUMAN		1	325	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	1	1	hg19	c.174C>T	CCDS9384.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				22	21		99	97	0		1	0		0	0	25	0		9.999992e-01	0	0	0	0	1	0	22	99
EPSTI1	94240	broad.mit.edu	37	13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000398762.3	-	7	613	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Missense_Mutation_p.S205N			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433																																						ENST00000398762.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(613-615)aGt>aAt		epithelial stromal interaction 1 (breast)							258.0	241.0	247.0					13																	43500515		2203	4300	6503	SO:0001583	missense	94240	0	0					g.chr13:43500515C>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.614G>A	chr13.hg19:g.43500515C>T	ENSP00000381746:p.Ser205Asn	0					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.S205N	p.S205N			0	0	0	1.903942	Q96J88	ESIP1_HUMAN		7	613	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	1	1	hg19	c.614G>A	CCDS9387.1	1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115810	0.56505	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22743	1.94	5.06	3.07	0.35406	5.06	3.07	0.35406	.	0.587060	0.18288	N	0.145787	T	0.19604	0.0471	M	0.62723	1.935	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.20767	0.013;0.031	T	0.22068	-1.0227	10	0.26408	T	0.33	-1.067	6.3186	0.21204	0.0:0.6543:0.0:0.3457	.	205;205	Q96J88-2;Q96J88-3	.;.	N	205;205;205;78	ENSP00000318982:S205N	ENSP00000318643:S205N	S	-	2	0	0	EPSTI1	42398515	42398515	0.832000	0.29368	0.002000	0.10522	0.051000	0.14879	1.041000	0.30291	0.629000	0.30376	0.655000	0.94253	AGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-20.000000	1	0.170000	NM_001002264			117	117		633	623	1		1	1		0	0	171	0		1	1	0	25	0	350	0	117	633
EPSTI1	94240	broad.mit.edu	37	13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000398762.3	-	4	371	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q124H			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363																																						ENST00000398762.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999433	0.990000	1.000000																										0				17						c.(370-372)caA>caC		epithelial stromal interaction 1 (breast)							147.0	135.0	139.0					13																	43538235		2203	4299	6502	SO:0001583	missense	94240	0	0					g.chr13:43538235T>G	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.372A>C	chr13.hg19:g.43538235T>G	ENSP00000381746:p.Gln124His	0					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q124H	p.Q124H			0	0	0	1.903942	Q96J88	ESIP1_HUMAN		4	371	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	1	1	hg19	c.372A>C	CCDS9387.1	1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030573	0.54790	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22539	1.95	5.02	-4.44	0.03557	5.02	-4.44	0.03557	.	0.071421	0.56097	D	0.000026	T	0.38957	0.1060	M	0.71581	2.175	0.23162	N	0.998199	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-14.6084	13.4021	0.60889	0.0:0.6759:0.0:0.3241	.	124;124	Q96J88-2;Q96J88-3	.;.	H	124	ENSP00000318982:Q124H	ENSP00000318643:Q124H	Q	-	3	2	2	EPSTI1	42436235	42436235	0.508000	0.26154	0.866000	0.34008	0.957000	0.61999	-0.301000	0.08232	-0.962000	0.03604	-0.250000	0.11733	CAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-16.665390	1	0.170000	NM_001002264			29	29		152	148	1		1	1		0	0	30	0		1	1	0	37	0	338	0	29	152
ENOX1	55068	broad.mit.edu	37	13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000482207.1_5'Flank|ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	77					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)			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)		GCTTGGATCAAAGCCTGGGAC	0.433																																						ENST00000261488.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				34						c.(229-231)tTt>tGt		ecto-NOX disulfide-thiol exchanger 1							78.0	85.0	83.0					13																	43935567		2203	4300	6503	SO:0001583	missense	55068	0	0					g.chr13:43935567A>C	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.230T>G	chr13.hg19:g.43935567A>C	ENSP00000261488:p.Phe77Cys	0					ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C|ENOX1_ENST00000482207.1_5'Flank|ENOX1_ENST00000540032.1_5'Flank	p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	0	0	0	1.903942	Q8TC92	ENOX1_HUMAN		6	807	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	1	1	hg19	c.230T>G	CCDS9389.1	1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739477	0.69304	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.50001	0.76;0.76	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.055352	0.64402	D	0.000001	T	0.59500	0.2198	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.63251	-0.6679	10	0.72032	D	0.01	-7.1115	15.6384	0.76973	1.0:0.0:0.0:0.0	.	77	Q8TC92	ENOX1_HUMAN	C	77	ENSP00000261488:F77C;ENSP00000415054:F77C	ENSP00000261488:F77C	F	-	2	0	0	ENOX1	42833567	42833567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.105000	0.64084	0.533000	0.62120	TTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_017993			47	47		253	250	1		1	0		0	0	57	0		1	7.698186e-01	0	0	0	17	0	47	253
ENOX1	55068	broad.mit.edu	37	13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	42					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)			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)		GGATCTGTCACGGACATGTTG	0.537																																						ENST00000261488.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(124-126)Gtg>Atg		ecto-NOX disulfide-thiol exchanger 1		C	MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	140.0	119.0	126.0		124,124,124	4.8	1.0	13	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	21,21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign,benign	42/644,42/644,42/644	43986136	3,13003	2203	4300	6503	SO:0001583	missense	55068	5	121412	39				g.chr13:43986136C>T	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.124G>A	chr13.hg19:g.43986136C>T	ENSP00000261488:p.Val42Met	0					ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	0	0	0	1.903942	Q8TC92	ENOX1_HUMAN		5	701	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	1	1	hg19	c.124G>A	CCDS9389.1	1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251216	0.22880	4.54E-4	1.16E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48522	0.81;0.81	5.62	4.77	0.60923	5.62	4.77	0.60923	.	0.065961	0.64402	D	0.000012	T	0.33614	0.0869	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08554	-1.0716	10	0.23302	T	0.38	0.011	14.0448	0.64698	0.0:0.9273:0.0:0.0727	.	42	Q8TC92	ENOX1_HUMAN	M	42	ENSP00000261488:V42M;ENSP00000415054:V42M	ENSP00000261488:V42M	V	-	1	0	0	ENOX1	42884136	42884136	0.990000	0.36364	0.994000	0.49952	0.994000	0.84299	2.711000	0.47177	1.511000	0.48818	0.467000	0.42956	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_017993			61	61		240	234	1		1	0		0	0	46	0		1	7.306193e-01	0	0	0	12	0	61	240
TSC22D1	8848	broad.mit.edu	37	13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	379					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)			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)		AGGAACACTGCTAACAGCAGC	0.483																																						ENST00000458659.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1135-1137)aGc>aAc		TSC22 domain family, member 1							107.0	93.0	98.0					13																	45149075		2203	4300	6503	SO:0001583	missense	8848	0	0					g.chr13:45149075C>T	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.1136G>A	chr13.hg19:g.45149075C>T	ENSP00000397435:p.Ser379Asn	0					TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N|TSC22D1_ENST00000460842.1_5'Flank	p.S379N	NM_183422.3	NP_904358.2	0	0	0	1.903942	Q15714	T22D1_HUMAN		1	1626	-		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)	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	1	1	hg19	c.1136G>A	CCDS31966.1	1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.558873	0.00009	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.29917	1.55	4.61	-1.12	0.09808	4.61	-1.12	0.09808	.	0.285367	0.30269	N	0.010014	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	10	0.06099	T	0.92	.	7.3014	0.26422	0.0:0.153:0.1233:0.7237	.	379;379	B3KRL7;Q15714	.;T22D1_HUMAN	N	379	ENSP00000397435:S379N	ENSP00000397435:S379N	S	-	2	0	0	TSC22D1	44047075	44047075	0.975000	0.34042	0.309000	0.25155	0.021000	0.10359	0.637000	0.24659	-0.014000	0.14175	-1.421000	0.01109	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_006022			65	64		267	259	1		1	1		0	0	55	0		1	9.998927e-01	0	13	0	45	0	65	267
NUFIP1	26747	broad.mit.edu	37	13	45554055	45554055	+	Silent	SNP	G	G	A	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	209					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294													G|||	3	0.000599042	0.0	0.0	5008	,	,		18075	0.0		0.001	False		,,,				2504	0.002					ENST00000379161.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.991612	0.990000	1.000000																										0				18						c.(625-627)caC>caT		nuclear fragile X mental retardation protein interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	63.0	65.0	65.0		627	1.7	1.0	13	dbSNP_134	65	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	NUFIP1	NM_012345.2		0,8,6489	AA,AG,GG		0.0815,0.0227,0.0616		209/496	45554055	8,12986	2203	4294	6497	SO:0001819	synonymous_variant	26747	94	121386	50				g.chr13:45554055G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.627C>T	chr13.hg19:g.45554055G>A		0					RP11-321C24.1_ENST00000437748.2_lincRNA	p.H209H	NM_012345.2	NP_036477.2	0	0	0	1.903942	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	4	673	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	Q8WVM5|Q96SG1	Silent	SNP	ENST00000379161.4	1	1	hg19	c.627C>T	CCDS9393.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-4.774779	1	0.170000	NM_012345			21	21		142	139	1		1	1		0	0	44	0		9.999981e-01	9.888426e-01	0	18	0	34	0	21	142
SLC25A30	253512	broad.mit.edu	37	13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	158					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				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)		AGTCCTCTTGTCCCCTCTTGC	0.368																																						ENST00000539591.1	1.000000	0.740000	1	8.600000e-01	0.990000	0.946942	0.990000	1.000000																										0				9						c.(319-321)Aca>Gca		solute carrier family 25, member 30							278.0	266.0	270.0					13																	45976427		2203	4300	6503	SO:0001583	missense	253512	0	0					g.chr13:45976427T>C	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.319A>G	chr13.hg19:g.45976427T>C	ENSP00000443542:p.Thr107Ala	0						p.T107A			0	0	0	1.903942	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	5	482	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	1	1	hg19	c.319A>G		1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870535	0.33069	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.59	1.81	0.25067	5.59	1.81	0.25067	Mitochondrial carrier domain (2);	0.146358	0.64402	N	0.000010	T	0.67021	0.2849	N	0.16098	0.37	0.43885	D	0.996502	P;P	0.46784	0.884;0.884	P;P	0.50537	0.643;0.643	T	0.62029	-0.6940	10	0.38643	T	0.18	-5.3928	9.0201	0.36195	0.0:0.2111:0.0:0.7889	.	158;158	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	A	158;83;107;107;83	ENSP00000429168:T158A;ENSP00000443542:T107A;ENSP00000429308:T107A;ENSP00000430687:T83A	ENSP00000429308:T107A	T	-	1	0	0	SLC25A30	44874427	44874427	0.996000	0.38824	0.084000	0.20598	0.983000	0.72400	2.564000	0.45931	0.145000	0.18977	0.533000	0.62120	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-13.623780	1	0.170000	XM_170736			47	46		480	472	1		1	1		0	0	101	0		1	9.488494e-01	0	8	0	44	0	47	480
SLC25A30	253512	broad.mit.edu	37	13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	154					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				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)		TCCCCTCTTGCTGGTAAATGT	0.383																																						ENST00000539591.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				9						c.(307-309)caG>caT		solute carrier family 25, member 30							266.0	258.0	261.0					13																	45976437		2203	4300	6503	SO:0001583	missense	253512	0	0					g.chr13:45976437C>A	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.309G>T	chr13.hg19:g.45976437C>A	ENSP00000443542:p.Gln103His	0						p.Q103H			0	0	0	1.903942	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	5	472	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	1	1	hg19	c.309G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780874	0.49891	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.87	0.44632	5.59	3.87	0.44632	Mitochondrial carrier domain (2);	0.054596	0.85682	D	0.000000	T	0.73140	0.3549	L	0.60455	1.87	0.42273	D	0.992066	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.69720	-0.5069	10	0.59425	D	0.04	-5.9333	10.8811	0.46939	0.0:0.7882:0.0:0.2118	.	154;154	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	H	154;79;103;103;79	ENSP00000429168:Q154H;ENSP00000443542:Q103H;ENSP00000429308:Q103H;ENSP00000430687:Q79H	ENSP00000429308:Q103H	Q	-	3	2	2	SLC25A30	44874437	44874437	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.711000	0.37930	0.837000	0.34925	-0.150000	0.13652	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	XM_170736			75	72		469	465	1		1	1		0	0	104	0		1	9.934920e-01	0	4	0	46	0	75	469
COG3	83548	broad.mit.edu	37	13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	441					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)			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)		CATGTGCAGAACAATGGTAAA	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1321-1323)aAc>aCc		component of oligomeric golgi complex 3							127.0	118.0	121.0					13																	46067616		2203	4300	6503	SO:0001583	missense	83548	0	0					g.chr13:46067616A>C	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.1322A>C	chr13.hg19:g.46067616A>C	ENSP00000258654:p.Asn441Thr	0					COG3_ENST00000465942.1_3'UTR	p.N441T	NM_031431.3	NP_113619	0	0	0	1.903942	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	12	1434	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	1	1	hg19	c.1322A>C	CCDS9398.1	1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548562	0.65311	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.045932	0.85682	D	0.000000	T	0.42063	0.1186	L	0.37561	1.115	0.58432	D	0.999997	B;D;D	0.57257	0.138;0.979;0.974	B;P;P	0.51777	0.039;0.679;0.647	T	0.16012	-1.0417	10	0.10636	T	0.68	-9.047	15.0147	0.71576	1.0:0.0:0.0:0.0	.	278;441;441	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	T	441	ENSP00000258654:N441T	ENSP00000258654:N441T	N	+	2	0	0	COG3	44965617	44965617	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.331000	0.96430	2.138000	0.66242	0.377000	0.23210	AAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				72	72		305	300	1		1	1		0	0	63	0		1	9.999825e-01	0	13	0	57	0	72	305
SPERT	220082	broad.mit.edu	37	13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	45						cytoplasmic membrane-bounded vesicle (GO:0016023)				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)		CTAGAAATTCCAATCAGTGTG	0.428																																						ENST00000310521.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999825	0.990000	1.000000																										0				15						c.(133-135)cCa>cTa		spermatid associated							59.0	59.0	59.0					13																	46276968		2203	4300	6503	SO:0001583	missense	220082	0	0					g.chr13:46276968C>T	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.134C>T	chr13.hg19:g.46276968C>T	ENSP00000309189:p.Pro45Leu	0					SPERT_ENST00000378966.3_5'Flank	p.P45L	NM_152719.1	NP_689932.1	0	0	0	1.903942	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	2	214	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	1	1	hg19	c.134C>T	CCDS9399.1	1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693050	0.68271	.	.	ENSG00000174015	ENST00000310521	T	0.58358	0.34	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.180171	0.27654	N	0.018417	T	0.61426	0.2346	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	10	0.48119	T	0.1	.	12.9338	0.58303	0.0:1.0:0.0:0.0	.	45	Q8NA61	SPERT_HUMAN	L	45	ENSP00000309189:P45L	ENSP00000309189:P45L	P	+	2	0	0	SPERT	45174969	45174969	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.018000	0.49625	2.753000	0.94483	0.655000	0.94253	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.109865	1	0.170000	NM_152719			36	34		188	186	1		1			0	0	53	0		1	0	0	0	0	0	0	36	188
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000310521.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										1	Substitution - Missense(1)	p.E57K(1)	large_intestine(1)	15						c.(169-171)Gaa>Aaa		spermatid associated							21.0	21.0	21.0					13																	46287329		2201	4298	6499	SO:0001583	missense	220082	0	0					g.chr13:46287329G>A	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	chr13.hg19:g.46287329G>A	ENSP00000309189:p.Glu57Lys	0					SPERT_ENST00000378966.3_Missense_Mutation_p.E21K	p.E57K	NM_152719.1	NP_689932.1	0	0	0	1.903942	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	3	249	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	1	1	hg19	c.169G>A	CCDS9399.1	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	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	0	SPERT	45185330	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	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_152719			45	45		169	166	0		1			0	0	32	0		1	0	0	0	0	0	0	45	169
ZC3H13	23091	broad.mit.edu	37	13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	391	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		GGAGAGCGATGTCTTGGAGGA	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1171-1173)Cat>Tat		zinc finger CCCH-type containing 13							149.0	129.0	136.0					13																	46563006		2203	4300	6503	SO:0001583	missense	23091	0	0					g.chr13:46563006G>A	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.1171C>T	chr13.hg19:g.46563006G>A	ENSP00000242848:p.His391Tyr	0					ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y	p.H391Y			0	0	0	1.903942	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	9	1519	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	1	1	hg19	c.1171C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959377	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35421	2.27;1.31	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.50240	0.1604	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.62955	0.813;0.909	T	0.48068	-0.9067	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	391;391	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	391;391;207	ENSP00000242848:H391Y;ENSP00000282007:H391Y	ENSP00000242848:H391Y	H	-	1	0	0	ZC3H13	45461007	45461007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.859000	0.86982	2.738000	0.93877	0.655000	0.94253	CAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_015070			52	52		194	191	1		1	1		0	0	56	0		1	1	0	31	0	77	0	52	194
CPB2	1361	broad.mit.edu	37	13	46679085	46679085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46679085G>A	ENST00000181383.4	-	1	76	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	20					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAACGCGAAGACATGCTGCT	0.468																																						ENST00000181383.4	0.760000	0.250000	6.200000e-01	3.400000e-01	0.470000	0.488887	0.470000	0.460000																										0				21						c.(58-60)gtC>gtT		carboxypeptidase B2 (plasma)							129.0	115.0	120.0					13																	46679085		2203	4300	6503	SO:0001819	synonymous_variant	1361	0	0					g.chr13:46679085G>A	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.60C>T	chr13.hg19:g.46679085G>A		0					CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	p.V20V	NM_001872.3	NP_001863.3	0	0	0	1.903942	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	1	76	-		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)	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	1	1	hg19	c.60C>T	CCDS9401.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-12.549720	1	0.170000	NM_001872			11	11		255	252	0		1			0	0	52	0		9.983282e-01	0	0	0	0	0	0	11	255
LCP1	3936	broad.mit.edu	37	13	46704966	46704966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000435666.2_Silent_p.E147E|LCP1_ENST00000323076.2_Silent_p.E578E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	578	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423			T	BCL6	NHL																																	ENST00000398576.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		13	13q14.1-q14.3	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)				L	L	BCL6		NHL		0				34						c.(1732-1734)gaG>gaA		lymphocyte cytosolic protein 1 (L-plastin)							199.0	191.0	194.0					13																	46704966		2203	4300	6503	SO:0001819	synonymous_variant	3936	0	0					g.chr13:46704966C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1734G>A	chr13.hg19:g.46704966C>T		0					LCP1_ENST00000435666.2_Silent_p.E147E|LCP1_ENST00000323076.2_Silent_p.E578E	p.E578E			0	0	0	1.903942	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	18	2122	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	1	1	hg19	c.1734G>A	CCDS9403.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_002298			80	80		402	395	0		1	1		0	0	104	0		1	1	0	2	0	409	0	80	402
LCP1	3936	broad.mit.edu	37	13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T	rs541702713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000435666.2_Missense_Mutation_p.A32T|LCP1_ENST00000323076.2_Missense_Mutation_p.A463T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	463	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388			T	BCL6	NHL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17376	0.0		0.0	False		,,,				2504	0.0					ENST00000398576.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		13	13q14.1-q14.3	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)				L	L	BCL6		NHL		0				34						c.(1387-1389)Gcg>Acg		lymphocyte cytosolic protein 1 (L-plastin)							129.0	109.0	116.0					13																	46716542		2203	4300	6503	SO:0001583	missense	3936	0	0					g.chr13:46716542C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1387G>A	chr13.hg19:g.46716542C>T	ENSP00000381581:p.Ala463Thr	0					LCP1_ENST00000435666.2_Missense_Mutation_p.A32T|LCP1_ENST00000323076.2_Missense_Mutation_p.A463T	p.A463T			0	0	0	1.903942	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	16	1775	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	1	1	hg19	c.1387G>A	CCDS9403.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392492	0.83011	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97089	-4.24;-4.24;-4.24	5.64	5.64	0.86602	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.903;1.0	D	0.98678	1.0691	10	0.45353	T	0.12	-15.0268	18.6878	0.91571	0.0:1.0:0.0:0.0	.	32;463	B4DUA0;P13796	.;PLSL_HUMAN	T	463;463;32	ENSP00000315757:A463T;ENSP00000381581:A463T;ENSP00000405134:A32T	ENSP00000315757:A463T	A	-	1	0	0	LCP1	45614543	45614543	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_002298			84	84		324	319	1		1	0		0	0	88	0		1	1	0	0	0	400	0	84	324
LCP1	3936	broad.mit.edu	37	13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.T150M			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	150	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393			T	BCL6	NHL																																	ENST00000398576.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		13	13q14.1-q14.3	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)				L	L	BCL6		NHL		0				34						c.(448-450)aCg>aTg		lymphocyte cytosolic protein 1 (L-plastin)							251.0	239.0	243.0					13																	46730615		2203	4300	6503	SO:0001583	missense	3936	0	0					g.chr13:46730615G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.449C>T	chr13.hg19:g.46730615G>A	ENSP00000381581:p.Thr150Met	0					LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.T150M	p.T150M			0	0	0	1.903942	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	8	837	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	1	1	hg19	c.449C>T	CCDS9403.1	1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681947	0.47991	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95788	-3.81;-3.81;-3.81	5.61	5.61	0.85477	5.61	5.61	0.85477	Calponin homology domain (5);	0.043588	0.85682	D	0.000000	D	0.94509	0.8232	M	0.76170	2.325	0.80722	D	1	P	0.40638	0.725	B	0.34301	0.179	D	0.94563	0.7764	10	0.52906	T	0.07	-18.0852	18.9874	0.92777	0.0:0.0:1.0:0.0	.	150	P13796	PLSL_HUMAN	M	150	ENSP00000315757:T150M;ENSP00000381581:T150M;ENSP00000408052:T150M	ENSP00000315757:T150M	T	-	2	0	0	LCP1	45628616	45628616	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.691000	0.54720	2.813000	0.96785	0.655000	0.94253	ACG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000	NM_002298			119	119		740	735	1		1	0		0	0	155	0		1	1	0	1	0	333	0	119	740
LCP1	3936	broad.mit.edu	37	13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.A2V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	2					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388			T	BCL6	NHL																																	ENST00000398576.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000				Dom	yes			Dom	yes		13	13q14.1-q14.3	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)				L	L	BCL6		NHL		0				34						c.(4-6)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							138.0	121.0	127.0					13																	46733793		2203	4300	6503	SO:0001583	missense	3936	0	0					g.chr13:46733793G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.5C>T	chr13.hg19:g.46733793G>A	ENSP00000381581:p.Ala2Val	0					LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.A2V	p.A2V			0	0	0	1.903942	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	5	393	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	1	1	hg19	c.5C>T	CCDS9403.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012336	0.75046	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.74421	-0.84;-0.84;0.29;-0.03	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.109676	0.64402	D	0.000011	T	0.66694	0.2815	L	0.35723	1.085	0.80722	D	1	B	0.32573	0.376	B	0.30646	0.118	T	0.70114	-0.4961	10	0.72032	D	0.01	-15.4324	16.1014	0.81175	0.0:0.0:1.0:0.0	.	2	P13796	PLSL_HUMAN	V	2	ENSP00000315757:A2V;ENSP00000381581:A2V;ENSP00000408052:A2V;ENSP00000402157:A2V	ENSP00000315757:A2V	A	-	2	0	0	LCP1	45631794	45631794	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.708000	0.61859	2.532000	0.85374	0.655000	0.94253	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.275582	1	0.170000	NM_002298			47	47		229	225	1		1	1		0	0	60	0		1	1	0	2	0	178	0	47	229
LRCH1	23143	broad.mit.edu	37	13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000389798.3	+	4	792	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	199										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)		CAGCTGCAACGAGATCACAGC	0.368																																						ENST00000389798.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999584	0.990000	1.000000																										0				26						c.(595-597)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 1							70.0	69.0	70.0					13																	47255891		2203	4300	6503	SO:0001583	missense	23143	4	121412	33				g.chr13:47255891G>A	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.595G>A	chr13.hg19:g.47255891G>A	ENSP00000374448:p.Glu199Lys	0					LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K	p.E199K	NM_015116.2	NP_055931	0	0	0	1.903942	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	4	792	+		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)	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	1	1	hg19	c.595G>A	CCDS31972.1	1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.591442	0.86851	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56444	0.46;0.46;0.46	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.182364	0.49916	D	0.000131	T	0.44222	0.1283	N	0.04203	-0.255	0.58432	D	0.999997	P;D;P;B	0.64830	0.934;0.994;0.919;0.372	B;P;B;B	0.50970	0.446;0.655;0.318;0.168	T	0.56763	-0.7925	10	0.62326	D	0.03	-12.7124	18.6246	0.91333	0.0:0.0:1.0:0.0	.	199;199;199;199	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	199	ENSP00000308493:E199K;ENSP00000374448:E199K;ENSP00000374447:E199K	ENSP00000308493:E199K	E	+	1	0	0	LRCH1	46153892	46153892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.167000	0.94773	2.645000	0.89757	0.538000	0.68166	GAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-2.814271	1	0.170000	NM_015116			31	30		163	162	1		1	1		0	0	65	0		1	9.999757e-01	0	30	0	61	0	31	163
LRCH1	23143	broad.mit.edu	37	13	47262061	47262061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000389798.3	+	6	1094	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000311191.6_Silent_p.S299S|LRCH1_ENST00000389797.3_Silent_p.S299S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	299										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)		CAGCTGACTCCCTTTATCTCC	0.423																																						ENST00000389798.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				26						c.(895-897)tcC>tcT		leucine-rich repeats and calponin homology (CH) domain containing 1							92.0	92.0	92.0					13																	47262061		2203	4300	6503	SO:0001819	synonymous_variant	23143	0	0					g.chr13:47262061C>T	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.897C>T	chr13.hg19:g.47262061C>T		0					LRCH1_ENST00000311191.6_Silent_p.S299S|LRCH1_ENST00000389797.3_Silent_p.S299S	p.S299S	NM_015116.2	NP_055931	0	0	0	1.903942	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	6	1094	+		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)	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	1	1	hg19	c.897C>T	CCDS31972.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-2.971484	1	0.170000	NM_015116			49	49		278	277	1		1	1		0	0	85	0		1	9.996928e-01	0	26	0	45	0	49	278
LRCH1	23143	broad.mit.edu	37	13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000389798.3	+	9	1342	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L|LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	382										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)		GAATTTCAACCGGAGCCTTCC	0.398																																						ENST00000389798.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1144-1146)cCg>cTg		leucine-rich repeats and calponin homology (CH) domain containing 1							79.0	83.0	82.0					13																	47269052		2203	4300	6503	SO:0001583	missense	23143	2	121412	31				g.chr13:47269052C>T	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.1145C>T	chr13.hg19:g.47269052C>T	ENSP00000374448:p.Pro382Leu	0					LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L|LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L	p.P382L	NM_015116.2	NP_055931	0	0	0	1.903942	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	9	1342	+		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)	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	1	1	hg19	c.1145C>T	CCDS31972.1	1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289009	0.10513	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54071	0.59;0.64;0.63	5.68	3.78	0.43462	5.68	3.78	0.43462	.	0.343441	0.24793	N	0.035544	T	0.32285	0.0824	L	0.36672	1.1	0.39613	D	0.969908	P;B;P;P	0.49635	0.878;0.139;0.926;0.878	B;B;B;B	0.37888	0.133;0.011;0.26;0.091	T	0.15752	-1.0426	10	0.12430	T	0.62	-3.5177	5.8134	0.18479	0.2344:0.6677:0.0:0.0979	.	382;382;382;382	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	382	ENSP00000308493:P382L;ENSP00000374448:P382L;ENSP00000374447:P382L	ENSP00000308493:P382L	P	+	2	0	0	LRCH1	46167053	46167053	0.003000	0.15002	0.908000	0.35775	0.896000	0.52359	0.603000	0.24149	1.407000	0.46875	-0.145000	0.13849	CCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-2.539749	1	0.170000	NM_015116			72	72		348	342	1		1	1		0	0	90	0		1	1	0	33	0	102	0	72	348
LRCH1	23143	broad.mit.edu	37	13	47297373	47297373	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000389798.3	+	16	1869	c.1672A>C	c.(1672-1674)Aga>Cga	p.R558R	LRCH1_ENST00000311191.6_Silent_p.R558R|LRCH1_ENST00000389797.3_Silent_p.R593R	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	558										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)		AAGACCTCAGAGAAATTTGGA	0.383																																						ENST00000389798.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995328	0.990000	1.000000																										0				26						c.(1672-1674)Aga>Cga		leucine-rich repeats and calponin homology (CH) domain containing 1							82.0	85.0	84.0					13																	47297373		2203	4300	6503	SO:0001819	synonymous_variant	23143	0	0					g.chr13:47297373A>C	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.1672A>C	chr13.hg19:g.47297373A>C		0					LRCH1_ENST00000311191.6_Silent_p.R558R|LRCH1_ENST00000389797.3_Silent_p.R593R	p.R558R	NM_015116.2	NP_055931	0	0	0	1.903942	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	16	1869	+		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)	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	1	1	hg19	c.1672A>C	CCDS31972.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_015116			33	31		242	235	1		1	1		0	0	63	0		1	9.999443e-01	0	26	0	87	0	33	242
ESD	2098	broad.mit.edu	37	13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	277					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308																																						ENST00000378720.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.998439	0.990000	1.000000																										0				9						c.(829-831)gCt>gAt		esterase D	Glutathione(DB00143)						160.0	161.0	161.0					13																	47345570		2203	4293	6496	SO:0001583	missense	2098	0	0					g.chr13:47345570G>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.830C>A	chr13.hg19:g.47345570G>T	ENSP00000367992:p.Ala277Asp	0					ESD_ENST00000378697.1_Missense_Mutation_p.A248D	p.A277D	NM_001984.1	NP_001975.1	0	0	0	1.903942	P10768	ESTD_HUMAN		10	1012	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	1	1	hg19	c.830C>A	CCDS9404.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691844	0.88735	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.053187	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94698	3.57	0.80722	D	1	P	0.52842	0.956	D	0.72075	0.976	T	0.74714	-0.3572	10	0.87932	D	0	-14.6698	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	277	P10768	ESTD_HUMAN	D	277;248	ENSP00000367992:A277D;ENSP00000367969:A248D	ENSP00000367969:A248D	A	-	2	0	0	ESD	46243571	46243571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-19.234690	1	0.170000				52	52		390	383	1		1	1		0	0	138	0		1	1	0	108	0	416	0	52	390
HTR2A	3356	broad.mit.edu	37	13	47409298	47409298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47409298C>T	ENST00000378688.4	-	3	1221	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	364					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)			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)	CAAACAAACACATTGAGCAGG	0.468																																						ENST00000378688.4	0.510000	0.150000	4.000000e-01	2.100000e-01	0.300000	0.316093	0.300000	0.290000																										0				36						c.(1090-1092)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	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)						111.0	104.0	106.0					13																	47409298		2203	4300	6503	SO:0001583	missense	3356	0	0					g.chr13:47409298C>T	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.1090G>A	chr13.hg19:g.47409298C>T	ENSP00000367959:p.Val364Met	0					HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M	p.V364M			0	0	0	1.903942	P28223	5HT2A_HUMAN		3	1221	-		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)	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	0	1	hg19	c.1090G>A	CCDS9405.1	0	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490649	0.44249	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.40756	1.02;1.02;1.02	5.65	4.8	0.61643	5.65	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.144833	0.48286	D	0.000182	T	0.61689	0.2367	M	0.81112	2.525	0.46823	D	0.999214	D;D	0.53885	0.957;0.963	P;D	0.64877	0.753;0.93	T	0.64740	-0.6336	10	0.87932	D	0	.	9.9077	0.41386	0.0:0.8599:0.0:0.1401	.	280;364	F5GWE8;P28223	.;5HT2A_HUMAN	M	364;280;364	ENSP00000367959:V364M;ENSP00000441861:V280M;ENSP00000437737:V364M	ENSP00000367959:V364M	V	-	1	0	0	HTR2A	46307299	46307299	0.731000	0.28111	0.995000	0.50966	0.566000	0.35808	1.463000	0.35277	2.827000	0.97445	0.650000	0.86243	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-9.713358	1	0.170000	NM_000621			10	10		371	366	0		1			0	0	67	0		9.967622e-01	0	0	0	0	0	0	10	371
SUCLA2	8803	broad.mit.edu	37	13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	292					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)			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)	GGGTCCAGTCCTGTAGATCAA	0.403																																						ENST00000378654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(874-876)caG>caT		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						88.0	86.0	87.0					13																	48528619		2203	4300	6503	SO:0001583	missense	8803	0	0					g.chr13:48528619C>A	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.876G>T	chr13.hg19:g.48528619C>A	ENSP00000367923:p.Gln292His	0					SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H	p.Q292H	NM_003850.2	NP_003841.1	0	0	0	1.903942	Q9P2R7	SUCB1_HUMAN		7	932	-		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)	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	1	1	hg19	c.876G>T	CCDS9406.1	1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.779577	0.31502	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.67	1.94	0.25998	5.67	1.94	0.25998	ATP-grasp fold, subdomain 2 (1);	0.183522	0.51477	D	0.000096	T	0.47173	0.1431	N	0.19112	0.55	0.41963	D	0.990719	B	0.15141	0.012	B	0.19148	0.024	T	0.33394	-0.9870	10	0.51188	T	0.08	0.7528	7.3261	0.26555	0.1155:0.6275:0.0:0.257	.	292	Q9P2R7	SUCB1_HUMAN	H	292;270;222;144;158;234;234;120;222;144	ENSP00000367923:Q292H;ENSP00000443412:Q158H;ENSP00000438182:Q234H;ENSP00000441056:Q234H;ENSP00000392771:Q222H;ENSP00000415091:Q144H	ENSP00000367898:Q144H	Q	-	3	2	2	SUCLA2	47426620	47426620	0.999000	0.42202	0.909000	0.35828	0.983000	0.72400	0.716000	0.25836	0.413000	0.25759	-0.143000	0.13931	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.693377	1	0.170000				102	102		371	368	1		1	1		0	0	92	0		1	1	0	25	0	125	0	102	371
ITM2B	9445	broad.mit.edu	37	13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378565.5	+	4	688	c.485A>C	c.(484-486)gAt>gCt	p.D162A	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	162	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				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)			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)		CTTAACCTGGATAAGTGCTAT	0.368																																						ENST00000378565.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				6						c.(484-486)gAt>gCt		integral membrane protein 2B							161.0	147.0	152.0					13																	48832293		2203	4300	6503	SO:0001583	missense	9445	0	0					g.chr13:48832293A>C	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.485A>C	chr13.hg19:g.48832293A>C	ENSP00000367828:p.Asp162Ala	0					ITM2B_ENST00000378549.5_Intron	p.D162A	NM_021999.4	NP_068839.1	0	0	0	1.903942	Q9Y287	ITM2B_HUMAN		4	688	+		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)	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	1	1	hg19	c.485A>C	CCDS9409.1	1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897934	0.91962	.	.	ENSG00000136156	ENST00000378565	T	0.78924	-1.22	5.84	5.84	0.93424	5.84	5.84	0.93424	BRICHOS (2);	0.187411	0.56097	D	0.000029	D	0.84243	0.5429	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.84274	0.0490	10	0.45353	T	0.12	-7.6342	15.4071	0.74887	1.0:0.0:0.0:0.0	.	162	Q9Y287	ITM2B_HUMAN	A	162	ENSP00000367828:D162A	ENSP00000367828:D162A	D	+	2	0	0	ITM2B	47730294	47730294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.285000	0.65633	2.230000	0.72887	0.528000	0.53228	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_021999			66	63		406	399	1		1	1		0	0	100	0		1	1	0	792	0	5238	0	66	406
RB1	5925	broad.mit.edu	37	13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	121					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		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)"""	CTGAGCTACAGAAAAACATAG	0.348		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)																												ENST00000267163.4	1.000000	0.420000	8.600000e-01	5.400000e-01	0.680000	0.703987	0.680000	1.000000		6	yes	Rec	yes	Familial retinoblastoma	yes	Rec	yes	Familial retinoblastoma	13	13q14	13q14	5925	D, Mis, N, F, S	retinoblastoma gene				"""L, E, M, O"""	L, E, M, O		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung		20	Whole gene deletion(15)|Unknown(5)	p.0?(15)|p.?(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	496						c.(361-363)caG>caT		retinoblastoma 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						78.0	85.0	82.0					13																	48916833		2203	4300	6503	SO:0001583	missense	5925	0	0		Hereditary Retinoblastoma	Familial Cancer Database		g.chr13:48916833G>T	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.363G>T	chr13.hg19:g.48916833G>T	ENSP00000267163:p.Gln121His	0	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q121H	NM_000321.2	NP_000312.2	0	0	0	1.903942	P06400	RB_HUMAN		3	501	+		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)	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	1	1	hg19	c.363G>T	CCDS31973.1	0	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561901	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.73575	-0.76	5.39	3.65	0.41850	5.39	3.65	0.41850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.149165	0.47093	D	0.000243	T	0.73969	0.3655	L	0.36672	1.1	0.32600	N	0.52605	D	0.57571	0.98	P	0.57425	0.82	T	0.78432	-0.2206	10	0.72032	D	0.01	.	8.6149	0.33826	0.1784:0.0:0.8216:0.0	.	121	P06400	RB_HUMAN	H	100;121	ENSP00000267163:Q121H	ENSP00000267163:Q121H	Q	+	3	2	2	RB1	47814834	47814834	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.421000	0.44688	0.745000	0.32763	0.603000	0.83216	CAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-5.773139	1	0.170000				17	17		259	259	0		1	1		0	0	63	0		9.999685e-01	8.719037e-01	0	2	0	56	0	17	259
RB1	5925	broad.mit.edu	37	13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	515	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)		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)"""	TTTGTCTTTCCCATGGATTCT	0.303		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)																												ENST00000267163.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.994123	0.990000	1.000000		6	yes	Rec	yes	Familial retinoblastoma	yes	Rec	yes	Familial retinoblastoma	13	13q14	13q14	5925	D, Mis, N, F, S	retinoblastoma gene				"""L, E, M, O"""	L, E, M, O		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	496						c.(1543-1545)Cca>Aca		retinoblastoma 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						47.0	46.0	46.0					13																	48955427		2202	4300	6502	SO:0001583	missense	5925	0	0		Hereditary Retinoblastoma	Familial Cancer Database		g.chr13:48955427C>A	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.1543C>A	chr13.hg19:g.48955427C>A	ENSP00000267163:p.Pro515Thr	0	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P515T	NM_000321.2	NP_000312.2	0	0	0	1.903942	P06400	RB_HUMAN		17	1681	+		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)	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	1	1	hg19	c.1543C>A	CCDS31973.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454404	0.84209	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96073	-3.9	5.34	5.34	0.76211	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	515	P06400	RB_HUMAN	T	494;515	ENSP00000267163:P515T	ENSP00000267163:P515T	P	+	1	0	0	RB1	47853428	47853428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.488000	0.83962	0.650000	0.86243	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.301466	1	0.170000				16	16		85	84	1		1	1		0	0	34	0		9.999552e-01	9.969923e-01	0	8	0	47	0	16	85
LPAR6	10161	broad.mit.edu	37	13	48986181	48986181	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	ENST00000378434.4	-	7	2003	c.379C>A	c.(379-381)Cta>Ata	p.L127I	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGGTTCTTAGAGTCTTTGAC	0.418																																						ENST00000378434.4	1.000000	0.420000	1	6.000000e-01	0.830000	0.813787	0.830000	1.000000																										19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	14						c.(379-381)Cta>Ata		lysophosphatidic acid receptor 6							38.0	39.0	39.0					13																	48986181		2203	4300	6503	SO:0001583	missense	10161	0	0					g.chr13:48986181G>T	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.379C>A	chr13.hg19:g.48986181G>T	ENSP00000367691:p.Leu127Ile	0					RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I	p.L127I	NM_005767.5	NP_005758.2	0	0	0	1.903942	P43657	LPAR6_HUMAN		7	2003	-			A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	0	1	hg19	c.379C>A	CCDS9410.1	0	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189123	0.21954	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.71698	-0.59;-0.59	6.06	4.25	0.50352	6.06	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.232564	0.35585	N	0.003120	T	0.49389	0.1554	N	0.16130	0.375	0.39018	D	0.95969	B	0.09022	0.002	B	0.15870	0.014	T	0.44267	-0.9339	10	0.22109	T	0.4	.	8.3214	0.32132	0.0702:0.0:0.5526:0.3772	.	127	P43657	LPAR6_HUMAN	I	127	ENSP00000367691:L127I;ENSP00000344353:L127I	ENSP00000344353:L127I	L	-	1	2	2	LPAR6	47884182	47884182	0.960000	0.32886	1.000000	0.80357	0.999000	0.98932	1.609000	0.36858	1.547000	0.49401	0.655000	0.94253	CTA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-13.936400	1	0.170000	NM_005767			9	9		110	107	0		1	1		0	0	22	0		9.941527e-01	9.645401e-01	0	2	0	72	0	9	110
RB1	5925	broad.mit.edu	37	13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	913	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				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.?(11)		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)"""	CGAATGCAAAAGCAGAAAATG	0.418		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)																												ENST00000267163.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999861	0.990000	1.000000		6	yes	Rec	yes	Familial retinoblastoma	yes	Rec	yes	Familial retinoblastoma	13	13q14	13q14	5925	D, Mis, N, F, S	retinoblastoma gene				"""L, E, M, O"""	L, E, M, O		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	496						c.(2737-2739)aAg>aGg		retinoblastoma 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						158.0	135.0	143.0					13																	49054158		2203	4300	6503	SO:0001583	missense	5925	0	0		Hereditary Retinoblastoma	Familial Cancer Database		g.chr13:49054158A>G	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.2738A>G	chr13.hg19:g.49054158A>G	ENSP00000267163:p.Lys913Arg	0	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_ENST00000484879.1_3'UTR	p.K913R	NM_000321.2	NP_000312.2	0	0	0	1.903942	P06400	RB_HUMAN		27	2876	+		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)	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	1	1	hg19	c.2738A>G	CCDS31973.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300929	0.81136	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.81247	-1.47	6.06	6.06	0.98353	6.06	6.06	0.98353	Rb C-terminal (1);	0.054730	0.64402	D	0.000001	D	0.82486	0.5047	L	0.40543	1.245	0.41921	D	0.990516	P	0.50528	0.936	P	0.53266	0.722	D	0.84188	0.0443	10	0.62326	D	0.03	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	913	P06400	RB_HUMAN	R	892;913	ENSP00000267163:K913R	ENSP00000267163:K913R	K	+	2	0	0	RB1	47952159	47952159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.315000	0.78130	0.533000	0.62120	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.036400	1	0.170000				32	32		147	142	1		1	1		0	0	41	0		1	1	0	20	0	197	0	32	147
RCBTB2	1102	broad.mit.edu	37	13	49064315	49064315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49064315C>T	ENST00000344532.3	-	15	2011	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K|RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	530					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGGTCCATTTCTGCAAAACCT	0.383																																						ENST00000344532.3	0.600000	0.180000	4.800000e-01	2.500000e-01	0.350000	0.373548	0.350000	0.340000																										0				31						c.(1588-1590)Gaa>Aaa		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							149.0	136.0	140.0					13																	49064315		2203	4300	6503	SO:0001583	missense	1102	0	0					g.chr13:49064315C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1588G>A	chr13.hg19:g.49064315C>T	ENSP00000345144:p.Glu530Lys	0					RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K|RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K	p.E530K	NM_001268.2	NP_001259.1	0	0	0	1.903942	O95199	RCBT2_HUMAN		15	2011	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	0	1	hg19	c.1588G>A	CCDS9411.1	0	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211695	0.22289	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74632	0.03;0.04;-0.86	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.043874	0.85682	D	0.000000	T	0.46483	0.1395	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.32573	0.004;0.0;0.376;0.0	B;B;B;B	0.30401	0.01;0.002;0.115;0.001	T	0.59005	-0.7535	10	0.02654	T	1	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	256;535;482;530	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	530;482;535;535;256	ENSP00000345144:E530K;ENSP00000389910:E535K;ENSP00000443862:E256K	ENSP00000345144:E530K	E	-	1	0	0	RCBTB2	47962316	47962316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.587000	0.60991	2.778000	0.95560	0.655000	0.94253	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.279990	1	0.170000	NM_001268			10	10		311	307	0		1	0		0	0	83	0		9.968018e-01	6.347210e-01	0	0	0	66	0	10	311
CYSLTR2	57105	broad.mit.edu	37	13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	119					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468																																						ENST00000282018.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				20						c.(355-357)Tat>Cat		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						182.0	176.0	178.0					13																	49281308		2203	4300	6503	SO:0001583	missense	57105	1	121412	30				g.chr13:49281308T>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.355T>C	chr13.hg19:g.49281308T>C	ENSP00000282018:p.Tyr119His	0						p.Y119H	NM_020377.2	NP_065110.1	0	0	0	1.903942	Q9NS75	CLTR2_HUMAN		1	358	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	1	1	hg19	c.355T>C	CCDS9412.1	1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877179	0.72294	.	.	ENSG00000152207	ENST00000282018	T	0.73363	-0.74	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.85801	0.5781	M	0.75085	2.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.86089	0.1549	10	0.49607	T	0.09	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	119	Q9NS75	CLTR2_HUMAN	H	119	ENSP00000282018:Y119H	ENSP00000282018:Y119H	Y	+	1	0	0	CYSLTR2	48179309	48179309	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.262000	0.72514	2.333000	0.79357	0.533000	0.62120	TAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1	1	0	0		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000				71	69		481	476	1		1	0		0	0	101	0		1	1.766620e-01	0	0	0	6	0	71	481
FNDC3A	22862	broad.mit.edu	37	13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	339	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)			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)		GATCTCAAGCCAGCCATGGAT	0.303																																						ENST00000492622.2	1.000000	0.700000	1	8.400000e-01	0.990000	0.940862	0.990000	1.000000																										0				41						c.(1015-1017)cCa>cAa		fibronectin type III domain containing 3A							66.0	67.0	67.0					13																	49741418		2203	4294	6497	SO:0001583	missense	22862	0	0					g.chr13:49741418C>A	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.1016C>A	chr13.hg19:g.49741418C>A	ENSP00000417257:p.Pro339Gln	0					FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	p.P339Q	NM_001079673.1	NP_001073141.1	0	0	0	1.903942	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	9	1321	+		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)	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	1	1	hg19	c.1016C>A	CCDS41886.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394644	0.83011	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.68624	-0.34;-0.34;-0.34	5.19	5.19	0.71726	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.83649	0.5300	M	0.86651	2.83	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	0.85438	0.1153	10	0.49607	T	0.09	-19.1357	15.8768	0.79170	0.0:1.0:0.0:0.0	.	283;339;339	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	339;275;339;283	ENSP00000417257:P339Q;ENSP00000441831:P339Q;ENSP00000381362:P283Q	ENSP00000338579:P275Q	P	+	2	0	0	FNDC3A	48639419	48639419	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.625000	0.74248	2.427000	0.82271	0.557000	0.71058	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.017764	1	0.170000	NM_014923			31	32		312	308	0		1	1		0	0	59	0		1	9.998564e-01	0	5	0	132	0	31	312
FNDC3A	22862	broad.mit.edu	37	13	49762718	49762718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	631	Fibronectin type-III 4. {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)			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)		TGAATCCAGGCTGTTTCTATC	0.393																																						ENST00000492622.2	0.410000	0.200000	3.600000e-01	2.400000e-01	0.290000	0.305539	0.290000	0.300000																										0				41						c.(1891-1893)ggC>ggT		fibronectin type III domain containing 3A							351.0	311.0	325.0					13																	49762718		2203	4300	6503	SO:0001819	synonymous_variant	22862	0	0					g.chr13:49762718C>T	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.1893C>T	chr13.hg19:g.49762718C>T		0					FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	p.G631G	NM_001079673.1	NP_001073141.1	0	0	0	1.903942	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	17	2198	+		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)	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	1	1	hg19	c.1893C>T	CCDS41886.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	0	0	1		2	2	2	0		0	0	220		220	215	1	2.060000	-2.890083	1	0.170000	NM_014923			30	30		1098	1081	0		1	1		0	0	220	0		1	9.381357e-01	0	9	0	162	0	30	1098
FNDC3A	22862	broad.mit.edu	37	13	49772216	49772216	+	Silent	SNP	C	C	T	rs376708332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	863	Fibronectin type-III 7. {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)			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)		AAGAAATAAGCGATGATGAGA	0.468																																						ENST00000492622.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(2587-2589)agC>agT		fibronectin type III domain containing 3A		C	,	0,4406		0,0,2203	126.0	117.0	120.0		2589,2421	2.0	1.0	13		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	863/1199,807/1143	49772216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22862	22	121412	45				g.chr13:49772216C>T	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.2589C>T	chr13.hg19:g.49772216C>T		0					FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	p.S863S	NM_001079673.1	NP_001073141.1	0	0	0	1.903942	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	22	2894	+		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)	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	1	1	hg19	c.2589C>T	CCDS41886.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	1	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-20.000000	1	0.170000	NM_014923			79	78		433	425	1		1	1		0	0	112	0		1	1	0	25	0	176	0	79	433
MLNR	2862	broad.mit.edu	37	13	49794908	49794908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	ENST00000218721.1	+	1	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R	MLNR_ENST00000398307.1_Silent_p.R145R	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	145					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|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;6.1e-09)		GCCCGCTCCGCGCCCGCGTCT	0.721																																						ENST00000218721.1	1.000000	0.310000	1	5.300000e-01	0.840000	0.793923	0.840000	1.000000																										0				14						c.(433-435)cgC>cgT		motilin receptor							7.0	7.0	7.0					13																	49794908		2147	4158	6305	SO:0001819	synonymous_variant	2862	0	0					g.chr13:49794908C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.435C>T	chr13.hg19:g.49794908C>T		0					MLNR_ENST00000398307.1_Silent_p.R145R	p.R145R	NM_001507.1	NP_001498.1	0	0	0	1.903942	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	1	435	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		Silent	SNP	ENST00000218721.1	0	1	hg19	c.435C>T	CCDS9414.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-10.617220	1	0.170000	NM_001507			4	4		46	46	0		1			0	0	8	0		8.931128e-01	0	0	0	0	0	0	4	46
MLNR	2862	broad.mit.edu	37	13	49796490	49796490	+	Missense_Mutation	SNP	G	G	A	rs200236330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	ENST00000218721.1	+	2	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	406					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|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;6.1e-09)		CGAGACAAGCGCTAACGTGAA	0.557																																						ENST00000218721.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997274	0.990000	1.000000																										0				14						c.(1216-1218)Gct>Act		motilin receptor		G	THR/ALA	0,4406		0,0,2203	47.0	49.0	48.0		1216	-6.0	0.0	13		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLNR	NM_001507.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	406/413	49796490	1,13005	2203	4300	6503	SO:0001583	missense	2862	2	121406	35				g.chr13:49796490G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1216G>A	chr13.hg19:g.49796490G>A	ENSP00000218721:p.Ala406Thr	0					MLNR_ENST00000398307.1_3'UTR	p.A406T	NM_001507.1	NP_001498.1	0	0	0	1.903942	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	2	1216	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		Missense_Mutation	SNP	ENST00000218721.1	0	1	hg19	c.1216G>A	CCDS9414.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604985	0.28623	0.0	1.16E-4	ENSG00000102539	ENST00000218721	T	0.69561	-0.41	5.21	-6.04	0.02178	5.21	-6.04	0.02178	.	1.018280	0.07867	N	0.967326	T	0.39489	0.1080	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.22277	-1.0221	10	0.16896	T	0.51	.	1.2048	0.01893	0.3972:0.0967:0.2118:0.2943	.	406	O43193	MTLR_HUMAN	T	406	ENSP00000218721:A406T	ENSP00000218721:A406T	A	+	1	0	0	MLNR	48694491	48694491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.993000	0.03720	-1.521000	0.01771	-0.145000	0.13849	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	0	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_001507			22	22		124	121	0		1			0	0	30	0		9.999991e-01	0	0	0	0	0	0	22	124
CDADC1	81602	broad.mit.edu	37	13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	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	175							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			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)		TAGATGCCAAAGCAGTGGAAA	0.433																																						ENST00000251108.6	1.000000	0.890000	1	9.900000e-01	0.990000	0.993230	0.990000	1.000000																										0				16						c.(523-525)aaA>aaC		cytidine and dCMP deaminase domain containing 1							114.0	108.0	110.0					13																	49841720		2203	4300	6503	SO:0001583	missense	81602	0	0					g.chr13:49841720A>C	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.525A>C	chr13.hg19:g.49841720A>C	ENSP00000251108:p.Lys175Asn	0					CDADC1_ENST00000444959.1_5'UTR	p.K175N	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	0	0	0	1.903942	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	5	638	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	1	1	hg19	c.525A>C	CCDS9415.1	1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670556	0.67814	.	.	ENSG00000102543	ENST00000251108	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	Cytidine deaminase-like (1);	0.222920	0.49305	D	0.000154	T	0.60728	0.2291	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.798	T	0.65990	-0.6034	9	0.87932	D	0	-24.7287	15.1388	0.72595	1.0:0.0:0.0:0.0	.	175;175	Q9BWV3;B2R742	CDAC1_HUMAN;.	N	175	.	ENSP00000251108:K175N	K	+	3	2	2	CDADC1	48739721	48739721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.576000	0.46033	2.219000	0.72066	0.533000	0.62120	AAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_030911			41	41		330	325	1		1	1		0	0	78	0		1	9.879839e-01	0	18	0	40	0	41	330
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.A399E(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)		ATCATACATGCGGAACAGAAT	0.353																																						ENST00000251108.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A399E(1)	lung(1)	16						c.(1195-1197)gCg>gTg		cytidine and dCMP deaminase domain containing 1							235.0	205.0	215.0					13																	49852631		2203	4300	6503	SO:0001583	missense	81602	0	0					g.chr13:49852631C>T	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.1196C>T	chr13.hg19:g.49852631C>T	ENSP00000251108:p.Ala399Val	0					CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	p.A399V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	0	0	0	1.903942	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	7	1309	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	1	1	hg19	c.1196C>T	CCDS9415.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681073	0.88542	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74737	-0.87;-0.87	5.62	4.78	0.61160	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	H	0.96333	3.805	0.54753	D	0.999986	D	0.63880	0.993	P	0.58172	0.834	D	0.91630	0.5318	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	V	399;201	ENSP00000251108:A399V;ENSP00000407226:A201V	ENSP00000251108:A399V	A	+	2	0	0	CDADC1	48750632	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_030911			105	104		540	534	1		1	1		0	0	144	0		1	9.383760e-01	0	4	0	21	0	105	540
PHF11	51131	broad.mit.edu	37	13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000378319.3	+	2	251	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_ENST00000488958.1_Missense_Mutation_p.N31K|PHF11_ENST00000357596.3_Missense_Mutation_p.N31K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTCATGAGAATTGTTTGGTAA	0.343																																						ENST00000378319.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997181	0.990000	1.000000																										0				4						c.(208-210)aaT>aaG		PHD finger protein 11							87.0	74.0	78.0					13																	50080886		2203	4300	6503	SO:0001583	missense	51131	0	0					g.chr13:50080886T>G	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.210T>G	chr13.hg19:g.50080886T>G	ENSP00000367570:p.Asn70Lys	0					PHF11_ENST00000357596.3_Missense_Mutation_p.N31K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	p.N70K	NM_001040443.1	NP_001035533.1	0	0	0	1.903942	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	2	251	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	1	1	hg19	c.210T>G	CCDS31975.1	1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216685	0.58452	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.55	0.94	0.19513	4.55	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75085	2.285	0.43355	D	0.99542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.73020	-0.4114	10	0.35671	T	0.21	-29.6694	6.4155	0.21714	0.0:0.3386:0.0:0.6614	.	70;70	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	70;31;31;31;31	ENSP00000367570:N70K;ENSP00000350209:N31K;ENSP00000420129:N31K;ENSP00000405227:N31K;ENSP00000417539:N31K	ENSP00000350209:N31K	N	+	3	2	2	PHF11	48978887	48978887	0.956000	0.32656	0.998000	0.56505	0.993000	0.82548	-0.295000	0.08298	0.088000	0.17205	0.528000	0.53228	AAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_016119			20	20		106	105	1		1	1		0	0	27	0		9.999972e-01	9.999957e-01	0	22	0	98	0	20	106
RCBTB1	55213	broad.mit.edu	37	13	50125569	50125569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	249					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		AGCCCTCATCTGTTAGTGCTA	0.473																																						ENST00000378302.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(745-747)acA>acG		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							146.0	125.0	132.0					13																	50125569		2203	4300	6503	SO:0001819	synonymous_variant	55213	1	121412	33				g.chr13:50125569T>C	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.747A>G	chr13.hg19:g.50125569T>C		0					RCBTB1_ENST00000546015.1_Silent_p.T249T|RCBTB1_ENST00000258646.3_Silent_p.T249T	p.T249T	NM_018191.3	NP_060661.3	0	0	0	1.903942	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	8	1007	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	1	1	hg19	c.747A>G	CCDS9418.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_018191			64	63		245	240	1		1	1		0	0	50	0		1	9.999961e-01	0	14	0	59	0	64	245
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		TTTCCGACATCCACCATGACT	0.468																																						ENST00000378302.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996961	0.990000	1.000000																										0				16						c.(7-9)Gat>Aat		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							112.0	105.0	107.0					13																	50141409		2203	4300	6503	SO:0001583	missense	55213	0	0					g.chr13:50141409C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.7G>A	chr13.hg19:g.50141409C>T	ENSP00000367552:p.Asp3Asn	0					RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N|RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N	p.D3N	NM_018191.3	NP_060661.3	0	0	0	1.903942	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	3	267	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	1	1	hg19	c.7G>A	CCDS9418.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.873139	0.97049	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.47528	1.07;1.07;0.84	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.67189	-0.5733	10	0.87932	D	0	-22.2148	20.1466	0.98079	0.0:1.0:0.0:0.0	.	3	Q8NDN9	RCBT1_HUMAN	N	3	ENSP00000258646:D3N;ENSP00000367552:D3N;ENSP00000443293:D3N	ENSP00000258646:D3N	D	-	1	0	0	RCBTB1	49039410	49039410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.779000	0.95612	0.591000	0.81541	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	1	0	1		2	2	2	0		0	0	82		82	79	1	2.060000	-3.221917	1	0.170000	NM_018191			39	37		287	282	1		1	1		0	0	82	0		1	9.214913e-01	0	8	0	26	0	39	287
EBPL	84650	broad.mit.edu	37	13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	190					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999817	0.990000	1.000000																										0				21						c.(568-570)gaA>gaC		emopamil binding protein-like							64.0	64.0	64.0					13																	50235155		2203	4300	6503	SO:0001583	missense	84650	0	0					g.chr13:50235155T>G	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.570A>C	chr13.hg19:g.50235155T>G	ENSP00000242827:p.Glu190Asp	0					EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR	p.E190D	NM_032565.3	NP_115954.1	0	0	0	1.903942	Q9BY08	EBPL_HUMAN		4	620	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	1	1	hg19	c.570A>C	CCDS9420.1	1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932681	0.34096	.	.	ENSG00000123179	ENST00000242827	D	0.98207	-4.79	5.61	0.32	0.15878	5.61	0.32	0.15878	.	0.239187	0.43110	D	0.000610	D	0.94847	0.8335	L	0.47016	1.485	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	D	0.87792	0.2619	10	0.25751	T	0.34	-3.3949	6.6785	0.23108	0.0:0.2645:0.1192:0.6163	.	190	Q9BY08	EBPL_HUMAN	D	190	ENSP00000242827:E190D	ENSP00000242827:E190D	E	-	3	2	2	EBPL	49133156	49133156	0.571000	0.26659	0.994000	0.49952	0.958000	0.62258	0.552000	0.23376	0.139000	0.18822	0.528000	0.53228	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-19.782120	1	0.170000	NM_032565			42	41		243	240	1		1	1		0	0	51	0		1	1	0	47	0	274	0	42	243
EBPL	84650	broad.mit.edu	37	13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000242827.6	-	3	339	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000378284.2_Missense_Mutation_p.T97A|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	97					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(289-291)Acc>Gcc		emopamil binding protein-like							140.0	122.0	128.0					13																	50237284		2203	4300	6503	SO:0001583	missense	84650	0	0					g.chr13:50237284T>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.289A>G	chr13.hg19:g.50237284T>C	ENSP00000242827:p.Thr97Ala	0					EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_Missense_Mutation_p.T97A|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378272.5_Intron	p.T97A	NM_032565.3	NP_115954.1	0	0	0	1.903942	Q9BY08	EBPL_HUMAN		3	339	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	1	1	hg19	c.289A>G	CCDS9420.1	1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929148	0.52759	.	.	ENSG00000123179	ENST00000378284;ENST00000242827;ENST00000378282	D;D	0.97906	-4.6;-4.6	5.9	4.64	0.57946	5.9	4.64	0.57946	.	0.231295	0.41938	N	0.000799	D	0.97084	0.9047	L	0.56280	1.765	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	D	0.94759	0.7934	10	0.16896	T	0.51	-7.7929	9.3337	0.38038	0.0:0.1056:0.0:0.8944	.	97	Q9BY08	EBPL_HUMAN	A	91;97;91	ENSP00000242827:T97A;ENSP00000367531:T91A	ENSP00000242827:T97A	T	-	1	0	0	EBPL	49135285	49135285	0.999000	0.42202	0.025000	0.17156	0.902000	0.53008	3.147000	0.50639	0.941000	0.37499	0.454000	0.30748	ACC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_032565			111	110		357	353	1		1	1		0	0	73	0		1	1	0	44	0	79	0	111	357
RNASEH2B	79621	broad.mit.edu	37	13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	209					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303																																						ENST00000336617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(625-627)aTt>aCt		ribonuclease H2, subunit B							137.0	146.0	143.0					13																	51522132		2203	4296	6499	SO:0001583	missense	79621	0	0					g.chr13:51522132T>C	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.626T>C	chr13.hg19:g.51522132T>C	ENSP00000337623:p.Ile209Thr	0					RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T	p.I209T	NM_024570.3	NP_078846.2	0	0	0	1.903942	Q5TBB1	RNH2B_HUMAN		8	1025	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	1	1	hg19	c.626T>C	CCDS9425.1	1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384921	0.25031	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96619	-4.07;-4.07	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.521832	0.22594	N	0.058050	D	0.89708	0.6793	N	0.08118	0	0.32135	N	0.586234	B;B	0.27380	0.177;0.01	B;B	0.23419	0.039;0.046	D	0.87590	0.2490	10	0.17832	T	0.49	-4.4388	13.4717	0.61285	0.0:0.0:0.0:1.0	.	209;209	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	T	209	ENSP00000337623:I209T;ENSP00000389877:I209T	ENSP00000337623:I209T	I	+	2	0	0	RNASEH2B	50420133	50420133	1.000000	0.71417	0.222000	0.23844	0.985000	0.73830	5.866000	0.69590	2.197000	0.70478	0.455000	0.32223	ATT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	1	0	1		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_024570			135	135		506	497	1		1	1		0	0	175	0		1	1	0	35	0	138	0	135	506
WDFY2	115825	broad.mit.edu	37	13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	66							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393																																						ENST00000298125.5	1.000000	0.660000	1	7.800000e-01	0.920000	0.903661	0.920000	1.000000																										0				16						c.(196-198)Gca>Aca		WD repeat and FYVE domain containing 2							213.0	177.0	189.0					13																	52234790		2203	4300	6503	SO:0001583	missense	115825	0	0					g.chr13:52234790G>A	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.196G>A	chr13.hg19:g.52234790G>A	ENSP00000298125:p.Ala66Thr	0						p.A66T	NM_052950.3	NP_443182.1	0	0	0	1.903942	Q96P53	WDFY2_HUMAN		2	376	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	1	1	hg19	c.196G>A	CCDS9429.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283920	0.23392	.	.	ENSG00000139668	ENST00000298125	T	0.66815	-0.23	5.76	2.07	0.26955	5.76	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.604669	0.19296	N	0.117770	T	0.31231	0.0790	N	0.01109	-1.01	0.21416	N	0.999693	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.34782	T	0.22	-0.1294	5.7799	0.18299	0.237:0.1387:0.6243:0.0	.	66	Q96P53	WDFY2_HUMAN	T	66	ENSP00000298125:A66T	ENSP00000298125:A66T	A	+	1	0	0	WDFY2	51132791	51132791	0.957000	0.32711	0.487000	0.27428	0.946000	0.59487	1.290000	0.33319	0.353000	0.24079	0.557000	0.71058	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-10.369320	1	0.170000	NM_052950			35	34		386	380	0		1	1		0	0	99	0		1	6.322350e-01	0	4	0	21	0	35	386
CCDC70	83446	broad.mit.edu	37	13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	104						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				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)		CTGGAAAGAGGAAAAATCCTT	0.473																																						ENST00000242819.4	1.000000	0.780000	1	8.900000e-01	0.990000	0.962248	0.990000	1.000000																										0				15						c.(310-312)Gaa>Taa		coiled-coil domain containing 70							65.0	78.0	73.0					13																	52439824		2203	4298	6501	SO:0001587	stop_gained	83446	0	0					g.chr13:52439824G>T		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.310G>T	chr13.hg19:g.52439824G>T	ENSP00000242819:p.Glu104*	0						p.E104*	NM_031290.2	NP_112580.2	0	0	0	1.903942	Q6NSX1	CCD70_HUMAN		2	606	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	Q8N7A8|Q9H097	Nonsense_Mutation	SNP	ENST00000242819.4	0	1	hg19	c.310G>T	CCDS9431.1	1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603293	0.46423	.	.	ENSG00000123171	ENST00000242819	.	.	.	5.83	-0.0301	0.13915	5.83	-0.0301	0.13915	.	0.323654	0.26688	N	0.023011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.8378	5.4271	0.16431	0.4361:0.0:0.4358:0.1281	.	.	.	.	X	104	.	ENSP00000242819:E104X	E	+	1	0	0	CCDC70	51337825	51337825	0.962000	0.33011	0.000000	0.03702	0.000000	0.00434	1.555000	0.36277	-0.092000	0.12417	-0.768000	0.03414	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-16.419350	1	0.170000	NM_031290			57	55		566	562	0		1			0	0	132	0		1	0	0	0	0	0	0	57	566
ATP7B	540	broad.mit.edu	37	13	52524499	52524499	+	Silent	SNP	G	G	A	rs570594838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000418097.2_Silent_p.G828G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	828					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)			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)	TGACGATATCGCCCCGCTGCA	0.567									Wilson disease				G|||	7	0.00139776	0.0	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.0072					ENST00000242839.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				55						c.(2482-2484)ggC>ggT		ATPase, Cu++ transporting, beta polypeptide	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)						73.0	78.0	76.0					13																	52524499		2145	4254	6399	SO:0001819	synonymous_variant	540	45	121188	48	Wilson disease	Familial Cancer Database		g.chr13:52524499G>A	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.2484C>T	chr13.hg19:g.52524499G>A		0					ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G	p.G828G	NM_000053.3	NP_000044.2	0	0	0	1.903942	P35670	ATP7B_HUMAN		10	2640	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	1	1	hg19	c.2484C>T	CCDS41892.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.252253	1	0.170000	NM_000053			48	45		244	240	1		1	1		0	0	66	0		1	9.593982e-01	0	7	0	22	0	48	244
ALG11	440138	broad.mit.edu	37	13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	46					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGACTGCTGCTACAGAGAAA	0.373																																						ENST00000521508.1	0.480000	0.160000	3.900000e-01	2.200000e-01	0.290000	0.312550	0.290000	0.290000																										0				13						c.(136-138)Cta>Ata		ALG11, alpha-1,2-mannosyltransferase							151.0	146.0	147.0					13																	52593140		2203	4300	6503	SO:0001583	missense	440138	0	0					g.chr13:52593140C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.136C>A	chr13.hg19:g.52593140C>A	ENSP00000430236:p.Leu46Ile	0					ALG11_ENST00000523764.1_Intron	p.L46I	NM_001004127.2	NP_001004127.2	0	0	0	1.903942	Q2TAA5	ALG11_HUMAN		2	141	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	1	1	hg19	c.136C>A	CCDS31977.1	0	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276529	0.23307	.	.	ENSG00000253710	ENST00000521508	T	0.77358	-1.09	5.74	4.9	0.64082	5.74	4.9	0.64082	.	0.594535	0.15138	U	0.278440	T	0.58075	0.2097	N	0.21545	0.675	0.42626	D	0.993367	B	0.13145	0.007	B	0.14023	0.01	T	0.48875	-0.8996	10	0.06236	T	0.91	.	5.5891	0.17291	0.2614:0.5861:0.0:0.1524	.	46	Q2TAA5	ALG11_HUMAN	I	46	ENSP00000430236:L46I	ENSP00000430236:L46I	L	+	1	2	2	ALG11	51491141	51491141	0.990000	0.36364	0.508000	0.27688	0.860000	0.49131	0.250000	0.18235	1.437000	0.47472	0.643000	0.83706	CTA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.047819	1	0.170000	NM_001004127			13	13		480	475	0		1	1		0	0	62	0		9.995119e-01	6.298442e-01	0	2	0	76	0	13	480
ALG11	440138	broad.mit.edu	37	13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	89					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTTAAGAGCCCTGCAGAAAAA	0.313																																						ENST00000521508.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				13						c.(265-267)Ctg>Atg		ALG11, alpha-1,2-mannosyltransferase							54.0	52.0	52.0					13																	52593269		2203	4300	6503	SO:0001583	missense	440138	0	0					g.chr13:52593269C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.265C>A	chr13.hg19:g.52593269C>A	ENSP00000430236:p.Leu89Met	0					ALG11_ENST00000523764.1_Intron	p.L89M	NM_001004127.2	NP_001004127.2	0	0	0	1.903942	Q2TAA5	ALG11_HUMAN		2	270	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	1	1	hg19	c.265C>A	CCDS31977.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053525	0.55218	.	.	ENSG00000253710	ENST00000521508	D	0.87966	-2.32	5.65	2.51	0.30379	5.65	2.51	0.30379	.	0.000000	0.64402	U	0.000018	D	0.90410	0.6998	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.73708	0.981	D	0.88716	0.3226	10	0.51188	T	0.08	.	9.3483	0.38122	0.1211:0.7344:0.0:0.1445	.	89	Q2TAA5	ALG11_HUMAN	M	89	ENSP00000430236:L89M	ENSP00000430236:L89M	L	+	1	2	2	ALG11	51491270	51491270	0.993000	0.37304	0.999000	0.59377	0.992000	0.81027	3.044000	0.49830	0.724000	0.32296	0.579000	0.79373	CTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.162218	1	0.170000	NM_001004127			45	44		238	234	1		1	1		0	0	47	0		1	9.996885e-01	0	13	0	54	0	45	238
ALG11	440138	broad.mit.edu	37	13	52598190	52598190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	108			N -> S (in dbSNP:rs17480245).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTAATGTCAACGGTCAACAGA	0.333																																						ENST00000521508.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(322-324)aaC>aaT		ALG11, alpha-1,2-mannosyltransferase							106.0	104.0	105.0					13																	52598190		2203	4300	6503	SO:0001819	synonymous_variant	440138	2	121412	37				g.chr13:52598190C>T	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.324C>T	chr13.hg19:g.52598190C>T		0					ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank	p.N108N	NM_001004127.2	NP_001004127.2	0	0	0	1.903942	Q2TAA5	ALG11_HUMAN		3	329	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	1	1	hg19	c.324C>T	CCDS31977.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_001004127			71	68		318	306	1		1	1		0	0	89	0		1	9.982281e-01	0	15	0	30	0	71	318
UTP14C	9724	broad.mit.edu	37	13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	174					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)				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)		TGAACATGCGCTCAGTGGCTG	0.527																																						ENST00000521776.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(520-522)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							62.0	64.0	63.0					13																	52603460		2203	4300	6503	SO:0001583	missense	9724	0	0					g.chr13:52603460C>T	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.520C>T	chr13.hg19:g.52603460C>T	ENSP00000428619:p.Leu174Phe	0					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L174F	NM_021645.5	NP_067677.4	0	0	0	1.903942	Q5TAP6	UT14C_HUMAN		2	1253	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	1	1	hg19	c.520C>T	CCDS31978.1	1	.	.	.	.	.	.	.	.	.	.	C	2.359	-0.346969	0.05208	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	2.46	0.519	0.17035	2.46	0.519	0.17035	.	0.328689	0.30365	N	0.009795	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.23261	-1.0193	10	0.20519	T	0.43	-3.1721	1.2538	0.01988	0.2225:0.4149:0.2187:0.1439	.	174	Q5TAP6	UT14C_HUMAN	F	174	ENSP00000428619:L174F	ENSP00000428619:L174F	L	+	1	0	0	UTP14C	51501461	51501461	0.000000	0.05858	0.741000	0.31004	0.880000	0.50808	-0.181000	0.09740	-0.036000	0.13669	0.448000	0.29417	CTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	1	0	1		2	2	2	0		0	0	84		84	81	1	2.060000	-20.000000	1	0.170000	NM_021645			66	64		342	335	0		1	1		0	0	84	0		1	9.985759e-01	0	12	0	41	0	66	342
UTP14C	9724	broad.mit.edu	37	13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	351					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)				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)		GGCACAGAAGTGGAAGAACTC	0.522																																						ENST00000521776.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1051-1053)gTg>gCg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							115.0	105.0	108.0					13																	52603992		2203	4300	6503	SO:0001583	missense	9724	0	0					g.chr13:52603992T>C	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.1052T>C	chr13.hg19:g.52603992T>C	ENSP00000428619:p.Val351Ala	0						p.V351A	NM_021645.5	NP_067677.4	0	0	0	1.903942	Q5TAP6	UT14C_HUMAN		2	1785	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	1	1	hg19	c.1052T>C	CCDS31978.1	1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910884	0.17833	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.58	-3.34	0.04943	2.58	-3.34	0.04943	.	0.572465	0.18972	N	0.126118	T	0.04679	0.0127	N	0.03608	-0.345	0.20489	N	0.999899	B	0.16802	0.019	B	0.17433	0.018	T	0.34329	-0.9833	9	.	.	.	-8.024	3.9033	0.09171	0.4944:0.1773:0.0:0.3283	.	351	Q5TAP6	UT14C_HUMAN	A	351	ENSP00000428619:V351A	.	V	+	2	0	0	UTP14C	51501993	51501993	0.848000	0.29623	0.004000	0.12327	0.148000	0.21650	1.724000	0.38064	-0.691000	0.05135	-0.795000	0.03280	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_021645			87	84		324	317	1		1	1		0	0	82	0		1	9.999449e-01	0	11	0	45	0	87	324
NEK5	341676	broad.mit.edu	37	13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	511					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)			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)		TGATGGACAGGCAGGTTACTC	0.433																																						ENST00000355568.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				39						c.(1531-1533)Cct>Tct		NIMA-related kinase 5							227.0	187.0	200.0					13																	52657437		2203	4300	6503	SO:0001583	missense	341676	0	0					g.chr13:52657437G>A	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.1531C>T	chr13.hg19:g.52657437G>A	ENSP00000347767:p.Pro511Ser	0						p.P511S	NM_199289.1	NP_954983.1	0	0	0	1.903942	Q6P3R8	NEK5_HUMAN		17	1670	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	1	1	hg19	c.1531C>T	CCDS31979.1	1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000197168	ENST00000355568	T	0.69806	-0.43	5.42	2.24	0.28232	5.42	2.24	0.28232	.	0.415847	0.19497	N	0.112832	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33777	-0.9855	10	0.10902	T	0.67	.	8.3384	0.32228	0.2948:0.0:0.7052:0.0	.	511	Q6P3R8	NEK5_HUMAN	S	511	ENSP00000347767:P511S	ENSP00000347767:P511S	P	-	1	0	0	NEK5	51555438	51555438	0.160000	0.22878	0.027000	0.17364	0.124000	0.20399	0.615000	0.24329	0.644000	0.30656	0.455000	0.32223	CCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_199289			58	58		314	307	1		1	0		0	0	92	0		1	0	0	0	0	1	0	58	314
NEK5	341676	broad.mit.edu	37	13	52684547	52684547	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5						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)			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)		GAAAAATGTTCTATAAATGGA	0.363																																						ENST00000355568.4	1.000000	0.690000	1	8.200000e-01	0.970000	0.932597	0.970000	1.000000																										0				39						c.e7-1		NIMA-related kinase 5							151.0	141.0	145.0					13																	52684547		2203	4300	6503	SO:0001630	splice_region_variant	341676	0	0					g.chr13:52684547C>T	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.397-1G>A	chr13.hg19:g.52684547C>T		0							NM_199289.1	NP_954983.1	0	0	0	1.903942	Q6P3R8	NEK5_HUMAN		7	536	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5TAP5	Splice_Site	SNP	ENST00000355568.4	1	1	hg19		CCDS31979.1	1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NEK5	51582548	51582548	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.383000	0.79741	2.361000	0.80049	0.460000	0.39030	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.075755	1	0.170000	NM_199289	Intron		34	34		352	346	0		1			0	0	90	0		1	0	0	0	0	0	0	34	352
NEK5	341676	broad.mit.edu	37	13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	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)			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)		TTGTCTATTGATCCTTTTCAT	0.358																																						ENST00000355568.4	0.690000	0.250000	5.700000e-01	3.400000e-01	0.440000	0.461813	0.440000	0.430000																										0				39						c.(274-276)aTc>aGc		NIMA-related kinase 5							138.0	126.0	130.0					13																	52686441		2203	4300	6503	SO:0001583	missense	341676	0	0					g.chr13:52686441A>C	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.275T>G	chr13.hg19:g.52686441A>C	ENSP00000347767:p.Ile92Ser	0						p.I92S	NM_199289.1	NP_954983.1	0	0	0	1.903942	Q6P3R8	NEK5_HUMAN		5	414	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	1	1	hg19	c.275T>G	CCDS31979.1	0	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949068	0.53186	.	.	ENSG00000197168	ENST00000355568	T	0.70986	-0.53	5.29	4.11	0.48088	5.29	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081433	0.50627	D	0.000119	D	0.85758	0.5771	M	0.91406	3.205	0.42125	D	0.991441	D	0.89917	1.0	D	0.80764	0.994	D	0.87643	0.2523	10	0.87932	D	0	.	11.2021	0.48747	0.9276:0.0:0.0724:0.0	.	92	Q6P3R8	NEK5_HUMAN	S	92	ENSP00000347767:I92S	ENSP00000347767:I92S	I	-	2	0	0	NEK5	51584442	51584442	1.000000	0.71417	0.899000	0.35326	0.390000	0.30446	8.200000	0.89733	0.954000	0.37851	0.383000	0.25322	ATC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-14.692540	1	0.170000	NM_199289			14	14		341	333	0		1	0		0	0	77	0		9.997273e-01	0	0	0	0	1	0	14	341
THSD1	55901	broad.mit.edu	37	13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000258613.4	-	5	2216	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000349258.4_Missense_Mutation_p.A627T	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	680					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597																																						ENST00000258613.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				30						c.(2038-2040)Gcc>Acc		thrombospondin, type I, domain containing 1							24.0	25.0	25.0					13																	52952067		2203	4300	6503	SO:0001583	missense	55901	0	0					g.chr13:52952067C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2038G>A	chr13.hg19:g.52952067C>T	ENSP00000258613:p.Ala680Thr	0					THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000349258.4_Missense_Mutation_p.A627T	p.A680T	NM_018676.3	NP_061146.1	0	0	0	1.903942	Q9NS62	THSD1_HUMAN		5	2216	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	1	1	hg19	c.2038G>A	CCDS9432.1	1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253253	0.10185	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.31247	2.23;1.5;2.42	5.55	-2.05	0.07321	5.55	-2.05	0.07321	.	0.689879	0.14610	N	0.309077	T	0.18759	0.0450	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.14023	0.01;0.006	T	0.14531	-1.0469	10	0.46703	T	0.11	-2.5637	2.9248	0.05780	0.1065:0.3323:0.1151:0.4461	.	627;680	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	627;301;680	ENSP00000340650:A627T;ENSP00000438512:A301T;ENSP00000258613:A680T	ENSP00000258613:A680T	A	-	1	0	0	THSD1	51850068	51850068	0.000000	0.05858	0.015000	0.15790	0.078000	0.17371	-0.176000	0.09811	-0.899000	0.03901	-0.267000	0.10333	GCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3	1	0	1		2	2	2	0		0	0	49		49	46	1	2.060000	-20.000000	1	0.170000				50	49		217	207	1		1	0		0	0	49	0		1	3.937533e-01	0	0	0	7	0	50	217
THSD1	55901	broad.mit.edu	37	13	52952422	52952422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000258613.4	-	5	1861	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000349258.4_Silent_p.D508D	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527																																						ENST00000258613.4	1.000000	0.750000	1	8.500000e-01	0.950000	0.934794	0.950000	1.000000																										0				30						c.(1681-1683)gaC>gaT		thrombospondin, type I, domain containing 1							95.0	100.0	98.0					13																	52952422		2203	4300	6503	SO:0001819	synonymous_variant	55901	0	0					g.chr13:52952422G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1683C>T	chr13.hg19:g.52952422G>A		0					THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000349258.4_Silent_p.D508D	p.D561D	NM_018676.3	NP_061146.1	0	0	0	1.903942	Q9NS62	THSD1_HUMAN		5	1861	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	1	1	hg19	c.1683C>T	CCDS9432.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-18.309400	1	0.170000				76	76		814	792	0		1	0		0	0	155	0		1	4.008816e-02	0	0	0	4	0	76	814
VPS36	51028	broad.mit.edu	37	13	52991255	52991255	+	Silent	SNP	G	G	A	rs199529310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	309					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		16992	0.0		0.001	False		,,,				2504	0.0					ENST00000378060.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999599	0.990000	1.000000																										0				17						c.(925-927)ggC>ggT		vacuolar protein sorting 36 homolog (S. cerevisiae)							69.0	61.0	64.0					13																	52991255		2203	4300	6503	SO:0001819	synonymous_variant	51028	0	0					g.chr13:52991255G>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.927C>T	chr13.hg19:g.52991255G>A		0						p.G309G	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	0	0	0	1.903942	Q86VN1	VPS36_HUMAN		12	954	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	1	1	hg19	c.927C>T	CCDS9434.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				28	27		135	134	1		1	0		0	0	45	0		1	9.999184e-01	0	1	0	75	0	28	135
VPS36	51028	broad.mit.edu	37	13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	169					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E169K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343																																						ENST00000378060.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										1	Substitution - Missense(1)	p.E169K(1)	skin(1)	17						c.(505-507)Gaa>Taa		vacuolar protein sorting 36 homolog (S. cerevisiae)							127.0	149.0	141.0					13																	53007820		2201	4299	6500	SO:0001587	stop_gained	51028	0	0					g.chr13:53007820C>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.505G>T	chr13.hg19:g.53007820C>A	ENSP00000367299:p.Glu169*	0					VPS36_ENST00000480923.1_5'Flank	p.E169*	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	0	0	0	1.903942	Q86VN1	VPS36_HUMAN		6	532	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	0	1	hg19	c.505G>T	CCDS9434.1	1	.	.	.	.	.	.	.	.	.	.	.	36	5.669719	0.96754	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1812	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000367299:E169X	E	-	1	0	0	VPS36	51905821	51905821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.998220	1	0.170000				41	41		197	190	1		1	1		0	0	67	0		1	9.999935e-01	0	3	0	87	0	41	197
HNRNPA1L2	144983	broad.mit.edu	37	13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T	rs569388724		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000357495.2	+	1	1016	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	319					alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493													-|||	1	0.000199681	0.0008	0.0	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0					ENST00000357495.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999655	0.990000	1.000000																										0				7						c.(955-957)aGa>aTa		heterogeneous nuclear ribonucleoprotein A1-like 2							29.0	33.0	32.0					13																	53217583		1554	2869	4423	SO:0001583	missense	144983	1	115934	30				g.chr13:53217583G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.956G>T	chr13.hg19:g.53217583G>T	ENSP00000350090:p.Arg319Ile	0					HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I	p.R319I			0	0	0	1.903942	Q32P51	RA1L2_HUMAN		1	1016	+			Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	1	1	hg19	c.956G>T	CCDS31980.1	1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013350	0.35511	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.70631	-0.5;-0.5;-0.5	0.352	0.352	0.16051	0.352	0.352	0.16051	.	.	.	.	.	D	0.84097	0.5397	H	0.95982	3.75	0.37038	D	0.897007	D	0.55605	0.972	P	0.55011	0.766	D	0.88224	0.2899	8	0.87932	D	0	.	.	.	.	.	319	Q32P51	RA1L2_HUMAN	I	319	ENSP00000341285:R319I;ENSP00000381119:R319I;ENSP00000350090:R319I	ENSP00000341285:R319I	R	+	2	0	0	HNRNPA1L2	52115584	52115584	0.120000	0.22244	0.981000	0.43875	0.425000	0.31504	1.288000	0.33296	0.455000	0.26910	0.089000	0.15464	AGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	1	0	1		2	2	2	0		0	0	46		46	56	1	2.060000	-20.000000	1	0.170000	NM_001011724			37	36		213	205	0		1	0		0	0	46	0		1	4.018646e-01	0	1	0	8	0	37	213
LECT1	11061	broad.mit.edu	37	13	53282672	53282672	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000377962.3	-	6	866	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000448904.2_Splice_Site_p.H263R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	263					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488																																						ENST00000377962.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				15						c.(787-789)cAt>cGt		leukocyte cell derived chemotaxin 1							175.0	148.0	157.0					13																	53282672		2203	4300	6503	SO:0001630	splice_region_variant	11061	0	0					g.chr13:53282672T>C	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.789+1A>G	chr13.hg19:g.53282672T>C		0					LECT1_ENST00000448904.2_Splice_Site_p.H263R	p.H263R			0	0	0	1.903942	O75829	LECT1_HUMAN		6	866	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	Q5TAM4|Q8TAY6|Q9UM18	Splice_Site	SNP	ENST00000377962.3	1	0	hg19	c.788A>G	CCDS9437.1	1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819505	0.16607	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28666	1.61;1.6	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.094720	0.64402	D	0.000001	T	0.39886	0.1095	M	0.64997	1.995	0.49051	D	0.999742	P;P	0.41848	0.763;0.651	P;B	0.44990	0.466;0.276	T	0.37502	-0.9703	10	0.66056	D	0.02	.	15.114	0.72384	0.0:0.0:0.0:1.0	.	263;263	O75829-2;O75829	.;LECT1_HUMAN	R	263	ENSP00000388576:H263R;ENSP00000367198:H263R	ENSP00000367198:H263R	H	-	2	0	0	LECT1	52180673	52180673	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	5.407000	0.66363	2.044000	0.60594	0.454000	0.30748	CAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-19.999940	1	0.170000		Missense_Mutation		46	46		234	225	0		1			0	0	34	0		1	0	0	0	0	0	0	46	234
LECT1	11061	broad.mit.edu	37	13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000377962.3	-	6	724	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000448904.2_Missense_Mutation_p.V216M			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	216					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383																																						ENST00000377962.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				15						c.(646-648)Gtg>Atg		leukocyte cell derived chemotaxin 1							163.0	154.0	157.0					13																	53282814		2203	4300	6503	SO:0001583	missense	11061	0	0					g.chr13:53282814C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.646G>A	chr13.hg19:g.53282814C>T	ENSP00000367198:p.Val216Met	0					LECT1_ENST00000448904.2_Missense_Mutation_p.V216M	p.V216M			0	0	0	1.903942	O75829	LECT1_HUMAN		6	724	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	1	1	hg19	c.646G>A	CCDS9437.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465972	0.26335	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30448	1.53;1.53	5.06	2.1	0.27182	5.06	2.1	0.27182	.	0.620299	0.17456	N	0.173615	T	0.12475	0.0303	N	0.08118	0	0.20196	N	0.999925	B;B	0.14012	0.004;0.009	B;B	0.08055	0.003;0.002	T	0.14783	-1.0460	10	0.42905	T	0.14	.	2.1607	0.03824	0.1872:0.4807:0.1188:0.2133	.	216;216	O75829-2;O75829	.;LECT1_HUMAN	M	216	ENSP00000388576:V216M;ENSP00000367198:V216M	ENSP00000367198:V216M	V	-	1	0	0	LECT1	52180815	52180815	0.013000	0.17824	0.943000	0.38184	0.997000	0.91878	-0.300000	0.08243	0.545000	0.28902	0.555000	0.69702	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000				75	73		523	515	1		1	0		0	0	95	0		1	0	0	0	0	1	0	75	523
PCDH8	5100	broad.mit.edu	37	13	53419069	53419069	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCCACAGTCCTAATACGAAA	0.552																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	1.000000	0.420000	8.800000e-01	5.400000e-01	0.690000	0.713651	0.690000	1.000000																										0				36						c.e3-1		protocadherin 8							57.0	46.0	49.0					13																	53419069		2203	4300	6503	SO:0001630	splice_region_variant	5100	0	0					g.chr13:53419069C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2840-1G>T	chr13.hg19:g.53419069C>A		0					PCDH8_ENST00000338862.4_Splice_Site		NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		3	3043	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Splice_Site	SNP	ENST00000377942.3	1	1	hg19		CCDS9438.1	0	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938520	0.52972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PCDH8	52317070	52317070	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.487000	0.81328	2.700000	0.92200	0.563000	0.77884	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.018714	1	0.170000	NM_002590	Intron		16	16		240	238	0		1			0	0	48	0		9.999374e-01	0	0	0	0	0	0	16	240
PCDH8	5100	broad.mit.edu	37	13	53419603	53419603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	932					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	0.890000	0.400000	7.600000e-01	5.000000e-01	0.620000	0.640817	0.620000	0.620000																										0				36						c.(2794-2796)agC>agT		protocadherin 8							171.0	136.0	148.0					13																	53419603		2203	4300	6503	SO:0001819	synonymous_variant	5100	0	0					g.chr13:53419603G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2796C>T	chr13.hg19:g.53419603G>A		0					PCDH8_ENST00000338862.4_Silent_p.S835S	p.S932S	NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		2	2999	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	1	1	hg19	c.2796C>T	CCDS9438.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.074951	1	0.170000	NM_002590			22	21		371	363	0		1			0	0	60	0		9.999985e-01	0	0	0	0	0	0	22	371
PCDH8	5100	broad.mit.edu	37	13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	704	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997988	0.990000	1.000000																										0				36						c.(2110-2112)Gca>Aca		protocadherin 8							5.0	8.0	7.0					13																	53420462		1864	3876	5740	SO:0001583	missense	5100	0	0					g.chr13:53420462C>T	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.2110G>A	chr13.hg19:g.53420462C>T	ENSP00000367177:p.Ala704Thr	0					PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	p.A704T	NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		1	2313	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	0	1	hg19	c.2110G>A	CCDS9438.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.777492	0.96929	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50548	0.74;0.74	4.32	4.32	0.51571	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.160212	0.29293	N	0.012575	T	0.63343	0.2503	L	0.60845	1.875	0.58432	D	0.999994	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.67879	-0.5556	10	0.66056	D	0.02	.	17.0134	0.86412	0.0:1.0:0.0:0.0	.	704;704	O95206-2;O95206	.;PCDH8_HUMAN	T	704;704;230;547	ENSP00000367177:A704T;ENSP00000341350:A704T	ENSP00000341350:A704T	A	-	1	0	0	PCDH8	52318463	52318463	1.000000	0.71417	0.246000	0.24233	0.995000	0.86356	6.772000	0.75001	2.234000	0.73211	0.655000	0.94253	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_002590			19	19		89	87	0		1			0	0	11	0		9.999942e-01	0	0	0	0	0	0	19	89
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.S145S(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)		CCGCACCCTCGGACACCTCTA	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S145S(1)	lung(1)	36						c.(433-435)tcC>tcT		protocadherin 8							28.0	28.0	28.0					13																	53422137		2193	4292	6485	SO:0001819	synonymous_variant	5100	0	0					g.chr13:53422137G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.435C>T	chr13.hg19:g.53422137G>A		0					PCDH8_ENST00000338862.4_Silent_p.S145S	p.S145S	NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		1	638	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	1	1	hg19	c.435C>T	CCDS9438.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-3.377336	1	0.170000	NM_002590			44	43		194	191	1		1			0	0	40	0		1	0	0	0	0	0	0	44	194
PCDH8	5100	broad.mit.edu	37	13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	0.700000	0.300000	5.900000e-01	3.800000e-01	0.480000	0.496091	0.480000	0.480000																										0				36						c.(256-258)Ggg>Agg		protocadherin 8							39.0	42.0	41.0					13																	53422316		2202	4297	6499	SO:0001583	missense	5100	0	0					g.chr13:53422316C>T	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.256G>A	chr13.hg19:g.53422316C>T	ENSP00000367177:p.Gly86Arg	0					PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	p.G86R	NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		1	459	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	1	1	hg19	c.256G>A	CCDS9438.1	0	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962254	0.74016	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25912	1.77;1.77	4.99	4.99	0.66335	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000849	T	0.41789	0.1174	L	0.33624	1.015	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.20338	-1.0278	10	0.41790	T	0.15	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	86;86	O95206-2;O95206	.;PCDH8_HUMAN	R	86	ENSP00000367177:G86R;ENSP00000341350:G86R	ENSP00000341350:G86R	G	-	1	0	0	PCDH8	52320317	52320317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.337000	0.79520	0.561000	0.74099	GGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-2.931779	1	0.170000	NM_002590			21	21		467	464	0		1			0	0	66	0		9.999975e-01	0	0	0	0	0	0	21	467
PCDH8	5100	broad.mit.edu	37	13	53422634	53422634	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422634G>A	ENST00000377942.3	-	0	141				PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGTCGGGCGTCAGTCTCAG	0.627																																					GBM(36;25 841 9273 49207)	ENST00000377942.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.991185	0.990000	1.000000																										0				36								protocadherin 8																																						5100	0	0					g.chr13:53422634G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.-63C>T	chr13.hg19:g.53422634G>A		0					PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame		NM_002590.3	NP_002581.2	0	0	0	1.903942	O95206	PCDH8_HUMAN		0	141	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Translation_Start_Site	SNP	ENST00000377942.3	0	1	hg19		CCDS9438.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999980	1	0.170000	NM_002590			14	14		75	75	0		1			0	0	19	0		9.998388e-01	0	0	0	0	0	0	14	75
PCDH17	27253	broad.mit.edu	37	13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	431	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)			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)		CCGCCCGCTGGACCGCGAGAC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				120						c.(1291-1293)Gac>Aac		protocadherin 17							40.0	29.0	32.0					13																	58207971		2202	4297	6499	SO:0001583	missense	27253	0	0					g.chr13:58207971G>A	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.1291G>A	chr13.hg19:g.58207971G>A	ENSP00000367151:p.Asp431Asn	0						p.D431N	NM_001040429.2	NP_001035519.1	0	0	0	1.903942	O14917	PCD17_HUMAN		1	1317	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	1	1	hg19	c.1291G>A	CCDS31986.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394096	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	5.7	5.7	0.88788	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85928	0.1450	9	.	.	.	.	19.8477	0.96722	0.0:0.0:1.0:0.0	.	431;431	O14917-2;O14917	.;PCD17_HUMAN	N	431	ENSP00000367151:D431N	.	D	+	1	0	0	PCDH17	57105972	57105972	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.864000	0.99589	2.704000	0.92352	0.650000	0.86243	GAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001040429			35	35		142	141	0		1	0		0	0	32	0		1	2.660938e-01	0	0	0	5	0	35	142
DIAPH3	81624	broad.mit.edu	37	13	60348321	60348321	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313																																						ENST00000400324.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.997931	0.990000	1.000000																										0				46						c.e27+1		diaphanous-related formin 3							73.0	73.0	73.0					13																	60348321		1816	4082	5898	SO:0001630	splice_region_variant	81624	0	0					g.chr13:60348321A>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3319+1T>G	chr13.hg19:g.60348321A>C		0					DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site		NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	0	0	0	1.903942	Q9NSV4	DIAP3_HUMAN		27	3540	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Splice_Site	SNP	ENST00000400324.4	1	1	hg19		CCDS41898.1	1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855191	0.71719	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7538	0.78009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DIAPH3	59246322	59246322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.137000	0.66172	0.533000	0.62120	.	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-15.702240	1	0.170000	NM_001042517	Intron		35	34		239	235	1		1	0		0	0	56	0		1	0	0	0	0	1	0	35	239
DIAPH3	81624	broad.mit.edu	37	13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	104					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408																																						ENST00000400324.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(310-312)Gca>Tca		diaphanous-related formin 3							194.0	180.0	185.0					13																	60686224		1852	4113	5965	SO:0001583	missense	81624	0	0					g.chr13:60686224C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.310G>T	chr13.hg19:g.60686224C>A	ENSP00000383178:p.Ala104Ser	0					DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S	p.A104S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	0	0	0	1.903942	Q9NSV4	DIAP3_HUMAN		3	530	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	1	1	hg19	c.310G>T	CCDS41898.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030165	0.00410	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;T;T	0.80393	-1.37;-1.37;-1.35;-0.98;-1.37	4.24	1.8	0.24995	4.24	1.8	0.24995	.	0.720518	0.12749	N	0.442318	T	0.51398	0.1672	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	0.37549	-0.9701	10	0.15952	T	0.53	.	4.2547	0.10712	0.663:0.2219:0.1151:0.0	.	93;93;104	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	104;104;93;93;93;93;104;104	ENSP00000383178:A104S;ENSP00000383184:A104S;ENSP00000367141:A93S;ENSP00000383174:A93S;ENSP00000267215:A104S	ENSP00000267215:A104S	A	-	1	0	0	DIAPH3	59584225	59584225	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.732000	0.26072	0.080000	0.16959	-0.262000	0.10625	GCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	1	0	1		2	2	2	0		0	0	161		161	159	1	2.060000	-20.000000	1	0.170000	NM_001042517			126	125		687	668	1		1	0		0	0	161	0		1	2.444364e-02	0	0	0	2	0	126	687
PCDH20	64881	broad.mit.edu	37	13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	452	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413																																						ENST00000409186.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1354-1356)gCg>gTg		protocadherin 20							103.0	103.0	103.0					13																	61986877		2203	4300	6503	SO:0001583	missense	64881	2	121412	33				g.chr13:61986877G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1355C>T	chr13.hg19:g.61986877G>A	ENSP00000386653:p.Ala452Val	0					PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V	p.A452V			0	0	0	1.903942	Q8N6Y1	PCD20_HUMAN		5	3460	-		Breast(118;0.195)|Prostate(109;0.229)	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	1	1	hg19	c.1355C>T	CCDS9442.2	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240802	0.79912	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60548	0.18;0.18	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.77798	0.4184	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78991	-0.1985	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	452	A8K1K9	.	V	452;452;198	ENSP00000387250:A452V;ENSP00000386653:A452V	ENSP00000351500:A198V	A	-	2	0	0	PCDH20	60884878	60884878	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	GCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	1	0	1		18	2	2	1		1	1	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_022843			91	89		397	396	1		1	1		1	0	90	0		1	2.368264e-01	0	3	0	2	0	91	397
PCDH20	64881	broad.mit.edu	37	13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	335	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458																																						ENST00000409186.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				58						c.(1003-1005)Gtg>Ttg		protocadherin 20							91.0	93.0	92.0					13																	61987229		2203	4300	6503	SO:0001583	missense	64881	1	121412	36				g.chr13:61987229C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1003G>T	chr13.hg19:g.61987229C>A	ENSP00000386653:p.Val335Leu	0					PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L	p.V335L			0	0	0	1.903942	Q8N6Y1	PCD20_HUMAN		5	3108	-		Breast(118;0.195)|Prostate(109;0.229)	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	1	1	hg19	c.1003G>T	CCDS9442.2	1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684406	0.14907	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.114954	0.38663	N	0.001605	T	0.39306	0.1073	L	0.28115	0.83	0.30609	N	0.759682	B	0.09022	0.002	B	0.14578	0.011	T	0.29882	-0.9997	10	0.19147	T	0.46	.	6.7269	0.23361	0.0:0.686:0.1652:0.1488	.	335	A8K1K9	.	L	335;335;81	ENSP00000387250:V335L;ENSP00000386653:V335L	ENSP00000351500:V81L	V	-	1	0	0	PCDH20	60885230	60885230	0.990000	0.36364	1.000000	0.80357	0.648000	0.38561	2.585000	0.46111	2.732000	0.93576	0.655000	0.94253	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_022843			72	72		376	369	1		1	0		0	0	89	0		1	0	0	0	0	1	0	72	376
PCDH9	5101	broad.mit.edu	37	13	66879090	66879090	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000377865.2	-	4	3545	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9_ENST00000544246.1_Silent_p.G1137G			Q9HC56	PCDH9_HUMAN	protocadherin 9	1137					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)			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)		TATCAGAGTGACCCAAAACCA	0.488																																						ENST00000377865.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999733	0.990000	1.000000																										0				103						c.(3409-3411)ggT>ggC		protocadherin 9							88.0	77.0	81.0					13																	66879090		2203	4300	6503	SO:0001819	synonymous_variant	5101	0	0					g.chr13:66879090A>G	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.3411T>C	chr13.hg19:g.66879090A>G		0					PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000544246.1_Silent_p.G1137G	p.G1137G			0	0	0	1.903942	Q9HC56	PCDH9_HUMAN		4	3545	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	1	1	hg19	c.3411T>C	CCDS9444.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_203487			42	41		252	246	1		1			0	0	79	0		1	0	0	0	0	0	0	42	252
PCDH9	5101	broad.mit.edu	37	13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000377865.2	-	1	711	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M			Q9HC56	PCDH9_HUMAN	protocadherin 9	193	Cadherin 2. {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)			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)		GGAGTTTCCACGATATCCAGT	0.423																																						ENST00000377865.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(577-579)Gtg>Atg		protocadherin 9							135.0	136.0	136.0					13																	67801996		2203	4300	6503	SO:0001583	missense	5101	1	121412	24				g.chr13:67801996C>T	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.577G>A	chr13.hg19:g.67801996C>T	ENSP00000367096:p.Val193Met	0					PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M	p.V193M			0	0	0	1.903942	Q9HC56	PCDH9_HUMAN		1	711	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	1	1	hg19	c.577G>A	CCDS9444.1	1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470820	0.43942	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.39467	1.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.998;0.999	P;D;D;D	0.66847	0.887;0.928;0.912;0.947	T	0.67749	-0.5590	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	193;193;193;193	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	193	ENSP00000442186:V193M;ENSP00000367096:V193M;ENSP00000401699:V193M;ENSP00000332060:V193M;ENSP00000367092:V193M	ENSP00000332060:V193M	V	-	1	0	0	PCDH9	66699997	66699997	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1		2	2	2	0		0	0	162		162	161	1	2.060000	-20.000000	1	0.170000	NM_203487			154	151		626	619	1		1	0		0	0	162	0		1	5.564707e-01	0	1	0	8	0	154	626
PCDH9	5101	broad.mit.edu	37	13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000377865.2	-	1	505	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M			Q9HC56	PCDH9_HUMAN	protocadherin 9	124	Cadherin 1. {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)			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)		TTTGATCAGCCTGAAGAAATC	0.398																																						ENST00000377865.2	0.670000	0.280000	5.700000e-01	3.600000e-01	0.450000	0.468918	0.450000	0.450000																										0				103						c.(370-372)aGg>aTg		protocadherin 9							84.0	86.0	85.0					13																	67802202		2203	4300	6503	SO:0001583	missense	5101	0	0					g.chr13:67802202C>A	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.371G>T	chr13.hg19:g.67802202C>A	ENSP00000367096:p.Arg124Met	0					PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M	p.R124M			0	0	0	1.903942	Q9HC56	PCDH9_HUMAN		1	505	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	1	1	hg19	c.371G>T	CCDS9444.1	0	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647499	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55930	0.54;0.54;0.49;0.49;0.51	5.94	5.94	0.96194	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.85197	2.74	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77557	0.94;0.976;0.99;0.976	T	0.79638	-0.1720	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	124;124;124;124	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	124	ENSP00000442186:R124M;ENSP00000367096:R124M;ENSP00000401699:R124M;ENSP00000332060:R124M;ENSP00000367092:R124M	ENSP00000332060:R124M	R	-	2	0	0	PCDH9	66700203	66700203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.816000	0.96949	0.561000	0.74099	AGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-4.077222	1	0.170000	NM_203487			19	19		450	442	0		1	0		0	0	108	0		9.999895e-01	2.501045e-02	0	0	0	6	0	19	450
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T	rs376662373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448																																						ENST00000377844.4	1.000000	0.530000	9.400000e-01	6.500000e-01	0.780000	0.795470	0.780000	1.000000																										0				84						c.(1921-1923)Gga>Aga		kelch-like family member 1		C	ARG/GLY	0,4406		0,0,2203	130.0	114.0	119.0		1921	5.8	1.0	13		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL1	NM_020866.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	641/749	70293595	1,13005	2203	4300	6503	SO:0001583	missense	57626	1	121402	30				g.chr13:70293595C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1921G>A	chr13.hg19:g.70293595C>T	ENSP00000367075:p.Gly641Arg	0					KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	p.G641R	NM_020866.2	NP_065917.1	0	0	0	1.903942	Q9NR64	KLHL1_HUMAN		9	2680	-		Breast(118;0.000162)	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	1	1	hg19	c.1921G>A	CCDS9445.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.150594	0.94645	0.0	1.16E-4	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.82711	-1.64;-1.64	5.82	5.82	0.92795	5.82	5.82	0.92795	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000018	D	0.91192	0.7225	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91300	0.5066	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	641;641	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	641;448	ENSP00000367075:G641R;ENSP00000439602:G448R	ENSP00000367075:G641R	G	-	1	0	0	KLHL1	69191596	69191596	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.598635	1	0.170000	NM_020866			28	28		368	364	0		1			0	0	76	0		1	0	0	0	0	0	0	28	368
KLHL1	57626	broad.mit.edu	37	13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	463					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTCCTACAGCATACAAAGT	0.343																																						ENST00000377844.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.993020	0.990000	1.000000																										0				84						c.(1387-1389)gCt>gAt		kelch-like family member 1							120.0	112.0	114.0					13																	70413134		2201	4299	6500	SO:0001583	missense	57626	0	0					g.chr13:70413134G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1388C>A	chr13.hg19:g.70413134G>T	ENSP00000367075:p.Ala463Asp	0					KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	p.A463D	NM_020866.2	NP_065917.1	0	0	0	1.903942	Q9NR64	KLHL1_HUMAN		6	2147	-		Breast(118;0.000162)	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	1	1	hg19	c.1388C>A	CCDS9445.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859769	0.91433	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80214	-1.35;-1.35	5.14	5.14	0.70334	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.199083	0.35096	N	0.003456	D	0.93719	0.7993	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.95790	0.8824	10	0.87932	D	0	.	18.9658	0.92695	0.0:0.0:1.0:0.0	.	463;463	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	463;270	ENSP00000367075:A463D;ENSP00000439602:A270D	ENSP00000367075:A463D	A	-	2	0	0	KLHL1	69311135	69311135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.565000	0.86533	0.591000	0.81541	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-11.988470	1	0.170000	NM_020866			22	21		147	143	1		1			0	0	69	0		9.999989e-01	0	0	0	0	0	0	22	147
KLHL1	57626	broad.mit.edu	37	13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAAAGTGCTCACACCGCT	0.592																																						ENST00000377844.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(196-198)aGc>aTc		kelch-like family member 1							85.0	93.0	90.0					13																	70681635		2203	4300	6503	SO:0001583	missense	57626	0	0					g.chr13:70681635C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.197G>T	chr13.hg19:g.70681635C>A	ENSP00000367075:p.Ser66Ile	0					KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	p.S66I	NM_020866.2	NP_065917.1	0	0	0	1.903942	Q9NR64	KLHL1_HUMAN		1	956	-		Breast(118;0.000162)	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	1	1	hg19	c.197G>T	CCDS9445.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967163	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.73152	-0.72	5.19	5.19	0.71726	5.19	5.19	0.71726	.	4.515440	0.00357	N	0.000035	T	0.65533	0.2700	N	0.22421	0.69	0.80722	D	1	B;B	0.24823	0.112;0.047	B;B	0.19148	0.024;0.024	T	0.16897	-1.0387	10	0.48119	T	0.1	.	15.6983	0.77517	0.0:1.0:0.0:0.0	.	66;66	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	66	ENSP00000367075:S66I	ENSP00000367075:S66I	S	-	2	0	0	KLHL1	69579636	69579636	0.996000	0.38824	1.000000	0.80357	0.844000	0.47949	5.094000	0.64523	2.435000	0.82474	0.650000	0.86243	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_020866			86	84		381	375	1		1			0	0	75	0		1	0	0	0	0	0	0	86	381
DACH1	1602	broad.mit.edu	37	13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000359684.2	-	10	2165	c.2166G>T	c.(2164-2166)agG>agT	p.R722S	DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000305425.4_Missense_Mutation_p.R670S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	722					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388																																						ENST00000359684.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2164-2166)agG>agT		dachshund family transcription factor 1							313.0	296.0	302.0					13																	72049848		1908	4134	6042	SO:0001583	missense	1602	0	0					g.chr13:72049848C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2166G>T	chr13.hg19:g.72049848C>A	ENSP00000352712:p.Arg722Ser	0					DACH1_ENST00000305425.4_Missense_Mutation_p.R670S|DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S	p.R722S			0	0	0	1.903942	Q9UI36	DACH1_HUMAN		10	2165	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	1	1	hg19	c.2166G>T		1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.660850	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35236	1.34;1.4;1.39;1.32	5.1	2.45	0.29901	5.1	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.24229	N	0.995409	D;D;B	0.65815	0.989;0.995;0.383	D;D;P	0.76575	0.985;0.988;0.542	T	0.35301	-0.9794	10	0.66056	D	0.02	-12.8608	8.7276	0.34478	0.0:0.708:0.0:0.292	.	466;520;668	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	670;522;468;722;722	ENSP00000304994:R670S;ENSP00000318506:R522S;ENSP00000346604:R468S;ENSP00000352712:R722S	ENSP00000304994:R670S	R	-	3	2	2	DACH1	70947849	70947849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.668000	0.25127	0.273000	0.22049	-0.119000	0.15052	AGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	0	1		16	2	2	1		1	1	248		248	247	1	2.060000	-20.000000	1	0.170000	NM_004392			200	198		862	845	1		1	0		1	0	248	0		1	1.643118e-01	0	0	0	4	0	200	862
KLF5	688	broad.mit.edu	37	13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	312					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493																																						ENST00000377687.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999817	0.990000	1.000000																										0				17						c.(934-936)Cca>Tca		Kruppel-like factor 5 (intestinal)							137.0	114.0	122.0					13																	73636671		2203	4300	6503	SO:0001583	missense	688	0	0					g.chr13:73636671C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.934C>T	chr13.hg19:g.73636671C>T	ENSP00000366915:p.Pro312Ser	0					KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	p.P312S	NM_001730.3	NP_001721.2	0	0	0	1.903942	Q13887	KLF5_HUMAN		2	1470	+		Prostate(6;0.00187)|Breast(118;0.0735)	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	1	1	hg19	c.934C>T	CCDS9448.1	1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656232	0.67586	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12039	2.96;2.72	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00468	-1.1721	10	0.54805	T	0.06	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	312	Q13887	KLF5_HUMAN	S	221;312;292	ENSP00000440407:P221S;ENSP00000366915:P312S	ENSP00000366915:P312S	P	+	1	0	0	KLF5	72534672	72534672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000				61	60		414	405	1		1	1		0	0	98	0		1	1	0	405	0	638	0	61	414
KLF12	11278	broad.mit.edu	37	13	74420163	74420163	+	Silent	SNP	G	G	A	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	157					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498													G|||	6	0.00119808	0.0045	0.0	5008	,	,		21708	0.0		0.0	False		,,,				2504	0.0					ENST00000377669.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998798	0.990000	1.000000																										0				16						c.(469-471)ggC>ggT		Kruppel-like factor 12		G		18,4388	24.3+/-50.5	0,18,2185	94.0	80.0	84.0		471	3.3	1.0	13	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		157/403	74420163	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	11278	42	121406	47				g.chr13:74420163G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.471C>T	chr13.hg19:g.74420163G>A		0					KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	p.G157G	NM_007249.4	NP_009180.3	0	0	0	1.903942	Q9Y4X4	KLF12_HUMAN		3	497	-		Prostate(6;0.00217)|Breast(118;0.0838)	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	1	1	hg19	c.471C>T	CCDS9449.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-4.189255	1	0.170000	NM_007249			26	26		142	138	1		1	0		0	0	52	0		9.999999e-01	9.510507e-01	0	1	0	29	0	26	142
TBC1D4	9882	broad.mit.edu	37	13	75876437	75876437	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000377625.2_Silent_p.S888S|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	951	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418																																						ENST00000377636.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				50						c.(2851-2853)tcC>tcA		TBC1 domain family, member 4							129.0	120.0	123.0					13																	75876437		1886	4123	6009	SO:0001819	synonymous_variant	9882	0	0					g.chr13:75876437G>T	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.2853C>A	chr13.hg19:g.75876437G>T		0					TBC1D4_ENST00000377625.2_Silent_p.S888S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000478591.1_5'UTR	p.S951S	NM_014832.2	NP_055647.2	0	0	0	1.903942	O60343	TBCD4_HUMAN		16	3199	-		Prostate(6;0.014)|Breast(118;0.0982)	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	1	1	hg19	c.2853C>A	CCDS41901.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-2.746000	1	0.170000	NM_014832			55	54		326	321	1		1	1		0	0	96	0		1	9.891999e-01	0	2	0	42	0	55	326
COMMD6	170622	broad.mit.edu	37	13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377615.3	-	4	256	c.92G>A	c.(91-93)aGc>aAc	p.S31N	COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	31	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGTGTCTGAGCTCACAGCCAT	0.383																																						ENST00000377615.3	0.750000	0.320000	6.400000e-01	4.000000e-01	0.510000	0.528621	0.510000	0.500000																										0				3						c.(91-93)aGc>aAc		COMM domain containing 6							95.0	88.0	90.0					13																	76104365		2203	4300	6503	SO:0001583	missense	170622	0	0					g.chr13:76104365C>T	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.92G>A	chr13.hg19:g.76104365C>T	ENSP00000366841:p.Ser31Asn	0					COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N	p.S31N			0	0	0	1.903942	Q7Z4G1	COMD6_HUMAN		4	256	-		Breast(118;0.0979)|Prostate(6;0.122)	A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	1	1	hg19	c.92G>A	CCDS9451.1	0	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545648	0.86022	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.09	5.09	0.68999	5.09	5.09	0.68999	COMM domain (1);	0.040721	0.85682	D	0.000000	T	0.38852	0.1056	.	.	.	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.22068	-1.0227	9	0.72032	D	0.01	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	31;31	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	N	31;31;46;31	ENSP00000385660:S31N;ENSP00000366841:S31N;ENSP00000366845:S46N;ENSP00000348054:S31N	ENSP00000348054:S31N	S	-	2	0	0	COMMD6	75002366	75002366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.525000	0.85131	0.655000	0.94253	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-19.423370	1	0.170000	XM_085023			19	19		396	387	0		1	1		0	0	81	0		9.999893e-01	1	0	46	0	621	0	19	396
LMO7	4008	broad.mit.edu	37	13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000341547.4	+	6	1754	c.494G>A	c.(493-495)aGa>aAa	p.R165K	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000357063.3_Missense_Mutation_p.R165K	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	165	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)			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)		ACTGACAGGAGAGTGAAAAAT	0.303																																						ENST00000341547.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				56						c.(493-495)aGa>aAa		LIM domain 7							89.0	91.0	90.0					13																	76369557		2203	4295	6498	SO:0001583	missense	4008	0	0					g.chr13:76369557G>A	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.494G>A	chr13.hg19:g.76369557G>A	ENSP00000342112:p.Arg165Lys	0					LMO7_ENST00000357063.3_Missense_Mutation_p.R165K|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA	p.R165K	NM_005358.5	NP_005349.3	0	0	0	1.903942	Q8WWI1	LMO7_HUMAN		6	1754	+		Breast(118;0.0992)	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	1	1	hg19	c.494G>A	CCDS9454.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835958	0.91117	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.56	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.050469	0.85682	D	0.000000	T	0.67711	0.2922	L	0.42245	1.32	0.54753	D	0.999989	P;D;D	0.71674	0.682;0.998;0.996	P;D;D	0.80764	0.692;0.994;0.987	T	0.57768	-0.7754	10	0.06757	T	0.87	-21.8128	20.1991	0.98252	0.0:0.0:1.0:0.0	.	74;165;113	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	165;165;165;113;74	ENSP00000342112:R165K;ENSP00000349571:R165K;ENSP00000366757:R165K;ENSP00000366719:R113K;ENSP00000431129:R74K	ENSP00000342112:R165K	R	+	2	0	0	LMO7	75267558	75267558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.690000	0.84178	2.775000	0.95449	0.650000	0.86243	AGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.222763	1	0.170000	NM_005358			59	59		350	348	1		1	1		0	0	89	0		1	1	0	76	0	140	0	59	350
LMO7	4008	broad.mit.edu	37	13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000321797.8	+	7	1148	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000357063.3_Missense_Mutation_p.E428K			Q8WWI1	LMO7_HUMAN	LIM domain 7	428	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)			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)		TTGGACCCCAGAAGATGTGAA	0.413																																						ENST00000321797.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(427-429)Gaa>Aaa		LIM domain 7							277.0	259.0	265.0					13																	76379826		1568	3582	5150	SO:0001583	missense	4008	0	0					g.chr13:76379826G>A	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.427G>A	chr13.hg19:g.76379826G>A	ENSP00000317802:p.Glu143Lys	0					LMO7_ENST00000357063.3_Missense_Mutation_p.E428K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA	p.E143K			0	0	0	1.903942	Q8WWI1	LMO7_HUMAN		7	1148	+		Breast(118;0.0992)	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	1	1	hg19	c.427G>A		1	.	.	.	.	.	.	.	.	.	.	G	31	5.073856	0.94000	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.054132	0.64402	D	0.000001	T	0.77003	0.4067	M	0.62723	1.935	0.54753	D	0.999985	D	0.76494	0.999	P	0.61874	0.895	T	0.75816	-0.3184	10	0.56958	D	0.05	-25.5359	20.6208	0.99490	0.0:0.0:1.0:0.0	.	143	E9PLH4	.	K	428;428;143;143;143	ENSP00000349571:E428K;ENSP00000366757:E428K;ENSP00000317802:E143K;ENSP00000433352:E143K;ENSP00000432269:E143K	ENSP00000317802:E143K	E	+	1	0	0	LMO7	75277827	75277827	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.598000	0.90852	2.882000	0.98803	0.655000	0.94253	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	1		2	2	2	0		0	0	307		307	305	1	2.060000	-20.000000	1	0.170000	NM_005358			206	203		1077	1060	1		1	0		0	0	307	0		1	2.605491e-02	0	1	0	1	0	206	1077
LMO7	4008	broad.mit.edu	37	13	76395671	76395671	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000321797.8	+	12	2588	c.1867T>C	c.(1867-1869)Tta>Cta	p.L623L	LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000357063.3_Silent_p.L908L			Q8WWI1	LMO7_HUMAN	LIM domain 7	908					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)			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)		TACAGTCAGGTTAACATCTGT	0.463																																						ENST00000321797.8	0.850000	0.340000	7.200000e-01	4.500000e-01	0.570000	0.589577	0.570000	0.560000																										0				56						c.(1867-1869)Tta>Cta		LIM domain 7							70.0	67.0	68.0					13																	76395671		2203	4300	6503	SO:0001819	synonymous_variant	4008	0	0					g.chr13:76395671T>C	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.1867T>C	chr13.hg19:g.76395671T>C		0					LMO7_ENST00000357063.3_Silent_p.L908L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000341547.4_Silent_p.L574L	p.L623L			0	0	0	1.903942	Q8WWI1	LMO7_HUMAN		12	2588	+		Breast(118;0.0992)	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	1	1	hg19	c.1867T>C		0	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573555	0.28092	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.91	3.44	0.39384	5.91	3.44	0.39384	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	-11.9249	4.7432	0.13024	0.1283:0.2078:0.0:0.6639	.	.	.	.	A	531	.	.	V	+	2	0	0	LMO7	75293672	75293672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.822000	0.39052	0.465000	0.27167	0.528000	0.53228	GTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-5.198378	1	0.170000	NM_005358			17	17		316	312	0		1	1		0	0	57	0		9.999648e-01	9.999609e-01	0	40	0	286	0	17	316
LMO7	4008	broad.mit.edu	37	13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000321797.8	+	27	4764	c.4043G>A	c.(4042-4044)gGt>gAt	p.G1348D	LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1633					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)			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)		GAGTCCCTGGGTCTTTGTTAT	0.493																																						ENST00000321797.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999794	0.990000	1.000000																										0				56						c.(4042-4044)gGt>gAt		LIM domain 7							146.0	121.0	129.0					13																	76429476		2203	4300	6503	SO:0001583	missense	4008	0	0					g.chr13:76429476G>A	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.4043G>A	chr13.hg19:g.76429476G>A	ENSP00000317802:p.Gly1348Asp	0					LMO7_ENST00000357063.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D	p.G1348D			0	0	0	1.903942	Q8WWI1	LMO7_HUMAN		27	4764	+		Breast(118;0.0992)	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	1	1	hg19	c.4043G>A		1	.	.	.	.	.	.	.	.	.	.	G	32	5.117643	0.94385	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87256	-2.23;-2.23;-2.23	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.159223	0.56097	D	0.000033	D	0.92811	0.7714	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92382	0.5914	10	0.66056	D	0.02	-23.5131	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1225;1299	E9PMS6;Q8WWI1-3	.;.	D	1299;1348;1225	ENSP00000342112:G1299D;ENSP00000317802:G1348D;ENSP00000431129:G1225D	ENSP00000317802:G1348D	G	+	2	0	0	LMO7	75327477	75327477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_005358			31	30		147	141	1		1	1		0	0	34	0		1	1	0	153	0	250	0	31	147
KCTD12	115207	broad.mit.edu	37	13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	295					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)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377474.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				4						c.(883-885)aGc>aAc		potassium channel tetramerization domain containing 12							58.0	46.0	50.0					13																	77459400		2203	4300	6503	SO:0001583	missense	115207	0	0					g.chr13:77459400C>T	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.884G>A	chr13.hg19:g.77459400C>T	ENSP00000366694:p.Ser295Asn	0		OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N|AC000403.1_ENST00000579275.1_RNA	p.S295N	NM_138444.3	NP_612453.1	0	0	0	1.903942	Q96CX2	KCD12_HUMAN		1	1125	-		Breast(118;0.212)		Missense_Mutation	SNP	ENST00000377474.2	1	1	hg19	c.884G>A	CCDS9455.1	1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222536	0.09863	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.117523	0.85682	N	0.000000	T	0.23054	0.0557	N	0.16098	0.37	0.44719	D	0.997712	B	0.18166	0.026	B	0.15052	0.012	T	0.07986	-1.0744	10	0.02654	T	1	.	14.0984	0.65039	0.0:0.802:0.198:0.0	.	295	Q96CX2	KCD12_HUMAN	N	295	ENSP00000366694:S295N;ENSP00000317141:S295N	ENSP00000317141:S295N	S	-	2	0	0	KCTD12	76357401	76357401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.987000	0.29603	2.399000	0.81585	0.462000	0.41574	AGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_138444			31	31		117	115	1		1	0		0	0	23	0		1	1	0	0	0	253	0	31	117
KCTD12	115207	broad.mit.edu	37	13	77460047	77460047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	KCTD12_ENST00000317765.2_Silent_p.R79R|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	79					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)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672																																						ENST00000377474.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999393	0.990000	1.000000																										0				4						c.(235-237)cgC>cgT		potassium channel tetramerization domain containing 12							19.0	16.0	17.0					13																	77460047		2166	4237	6403	SO:0001819	synonymous_variant	115207	0	0					g.chr13:77460047G>A	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.237C>T	chr13.hg19:g.77460047G>A		0					KCTD12_ENST00000317765.2_Silent_p.R79R|AC000403.1_ENST00000579275.1_RNA	p.R79R	NM_138444.3	NP_612453.1	0	0	0	1.903942	Q96CX2	KCD12_HUMAN		1	478	-		Breast(118;0.212)		Silent	SNP	ENST00000377474.2	1	1	hg19	c.237C>T	CCDS9455.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_138444			23	23		99	99	0		1	0		0	0	16	0		9.999997e-01	9.999908e-01	0	0	0	89	0	23	99
CLN5	1203	broad.mit.edu	37	13	77570262	77570262	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	189					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACTATATCAGGTAAGTTGTG	0.338																																						ENST00000377453.3	0.650000	0.290000	5.500000e-01	3.600000e-01	0.450000	0.462773	0.450000	0.450000																										0				16						c.(712-714)Gga>Tga		ceroid-lipofuscinosis, neuronal 5							88.0	87.0	88.0					13																	77570262		2203	4300	6503	SO:0001630	splice_region_variant	1203	0	0					g.chr13:77570262G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.712+1G>T	chr13.hg19:g.77570262G>T		0					CLN5_ENST00000485938.1_3'UTR	p.G238*	NM_006493.2	NP_006484.1	0	0	0	1.903942	O75503	CLN5_HUMAN		3	2004	+		Acute lymphoblastic leukemia(28;0.205)	B3KQK7	Splice_Site	SNP	ENST00000377453.3	0	1	hg19	c.712G>T	CCDS9456.1	0	.	.	.	.	.	.	.	.	.	.	G	47	13.781606	0.99763	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6383	19.3321	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	238;189;104	.	ENSP00000366673:G238X	G	+	1	0	0	CLN5	76468263	76468263	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	0	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-2.844251	1	0.170000	NM_006493	Nonsense_Mutation		22	22		526	520	0		1	1		0	0	128	0		9.999986e-01	9.667165e-01	0	7	0	128	0	22	526
FBXL3	26224	broad.mit.edu	37	13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	19					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)			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)		TCTTGGATTTCTCTGCAGTTC	0.383																																						ENST00000355619.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(55-57)gaG>gaT		F-box and leucine-rich repeat protein 3							141.0	152.0	148.0					13																	77595939		2203	4300	6503	SO:0001583	missense	26224	0	0					g.chr13:77595939C>A	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.57G>T	chr13.hg19:g.77595939C>A	ENSP00000347834:p.Glu19Asp	0						p.E19D	NM_012158.2	NP_036290.1	0	0	0	1.903942	Q9UKT7	FBXL3_HUMAN		2	381	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	1	1	hg19	c.57G>T	CCDS9457.1	1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133939	0.37630	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.35789	1.45;1.29	5.96	1.71	0.24356	5.96	1.71	0.24356	.	0.332847	0.34906	N	0.003593	T	0.13114	0.0318	N	0.08118	0	0.40094	D	0.976287	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.17369	T	0.5	-17.2596	1.574	0.02621	0.1378:0.3734:0.1359:0.3529	.	19	Q9UKT7	FBXL3_HUMAN	D	19	ENSP00000347834:E19D;ENSP00000412183:E19D	ENSP00000347834:E19D	E	-	3	2	2	FBXL3	76493940	76493940	0.999000	0.42202	0.999000	0.59377	0.931000	0.56810	1.126000	0.31344	0.397000	0.25310	0.655000	0.94253	GAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-20.000000	1	0.170000				142	141		622	612	1		1	1		0	0	141	0		1	9.999999e-01	0	25	0	78	0	142	622
MYCBP2	23077	broad.mit.edu	37	13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000544440.2	-	82	13816	c.13799G>A	c.(13798-13800)tGt>tAt	p.C4600Y	MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y					MYC binding protein 2, E3 ubiquitin protein ligase											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)		ACCTGCAGGACAGTGTGGTAG	0.318																																						ENST00000544440.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996244	0.990000	1.000000																										0				118						c.(13798-13800)tGt>tAt		MYC binding protein 2, E3 ubiquitin protein ligase							76.0	75.0	75.0					13																	77625140		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77625140C>T	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.13799G>A	chr13.hg19:g.77625140C>T	ENSP00000444596:p.Cys4600Tyr	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y	p.C4600Y			0	0	0	1.903942				82	13816	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.13799G>A		1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286163	0.80803	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.89287	3.02	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	D	0.85873	0.1417	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	4600	O75592	MYCB2_HUMAN	Y	4600;4638;4600	ENSP00000349892:C4600Y;ENSP00000384288:C4638Y;ENSP00000444596:C4600Y	ENSP00000349892:C4600Y	C	-	2	0	0	MYCBP2	76523141	76523141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	TGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_015057			35	35		255	245	1		1	1	1	0	0	60	69		1	9.999804e-01	9.988849e-01	17	14	106	64	35	255
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000544440.2	-	78	13094	c.13077C>T	c.(13075-13077)tgC>tgT	p.C4359C	MYCBP2_ENST00000407578.2_Silent_p.C4397C|MYCBP2_ENST00000357337.6_Silent_p.C4359C					MYC binding protein 2, E3 ubiquitin protein ligase											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)		TAACACCCCCGCATGGATGGC	0.448																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				118						c.(13075-13077)tgC>tgT		MYC binding protein 2, E3 ubiquitin protein ligase							151.0	123.0	132.0					13																	77632491		2203	4300	6503	SO:0001819	synonymous_variant	23077	2	121412	32				g.chr13:77632491G>A	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.13077C>T	chr13.hg19:g.77632491G>A		0					MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000407578.2_Silent_p.C4397C	p.C4359C			0	0	0	1.903942				78	13094	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Silent	SNP	ENST00000544440.2	1	1	hg19	c.13077C>T		1	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137802	0.21123	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-1.34	0.09143	5.42	-1.34	0.09143	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	12.2985	0.54860	0.5067:0.0:0.4933:0.0	.	.	.	.	W	780	.	.	R	-	1	2	2	MYCBP2	76530492	76530492	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	1.315000	0.33608	-0.201000	0.10284	-0.482000	0.04802	CGG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-2.971752	1	0.170000	NM_015057			62	62		338	328	0		1	1	1	0	0	65	243		1	9.999865e-01	1	15	56	75	299	62	338
MYCBP2	23077	broad.mit.edu	37	13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000544440.2	-	76	12875	c.12858C>A	c.(12856-12858)ttC>ttA	p.F4286L	MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L					MYC binding protein 2, E3 ubiquitin protein ligase											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)		CCATCAACCAGAACAATTTGG	0.368																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				118						c.(12856-12858)ttC>ttA		MYC binding protein 2, E3 ubiquitin protein ligase							143.0	122.0	129.0					13																	77635368		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77635368G>T	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.12858C>A	chr13.hg19:g.77635368G>T	ENSP00000444596:p.Phe4286Leu	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L	p.F4286L			0	0	0	1.903942				76	12875	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.12858C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461572|3.461572	0.63513|0.63513	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	6.17|6.17	4.44|4.44	0.53790|0.53790	6.17|6.17	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.54957|0.54957	-0.8215|-0.8215	10|5	0.87932|.	D|.	0|.	.|.	10.2374|10.2374	0.43290|0.43290	0.2053:0.0:0.7947:0.0|0.2053:0.0:0.7947:0.0	.|.	4286|.	O75592|.	MYCB2_HUMAN|.	L|M	4286;4324;4286|707	ENSP00000349892:F4286L;ENSP00000384288:F4324L;ENSP00000444596:F4286L|.	ENSP00000349892:F4286L|.	F|L	-|-	3|1	2|2	2|2	MYCBP2|MYCBP2	76533369|76533369	76533369|76533369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	0.923000|0.923000	0.37045|0.37045	0.655000|0.655000	0.94253|0.94253	TTC|CTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.078265	1	0.170000	NM_015057			51	51		297	292	1		1	1	1	0	0	36	758		1	9.997193e-01	1	8	113	65	745	51	297
MYCBP2	23077	broad.mit.edu	37	13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'Flank					MYC binding protein 2, E3 ubiquitin protein ligase											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)		TTATGCATGGACATTTCAAAA	0.403																																						ENST00000544440.2	0.490000	0.180000	4.000000e-01	2.400000e-01	0.310000	0.327814	0.310000	0.310000																										0				118						c.(9319-9321)Tcc>Ccc		MYC binding protein 2, E3 ubiquitin protein ligase							129.0	112.0	118.0					13																	77671856		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77671856A>G	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.9319T>C	chr13.hg19:g.77671856A>G	ENSP00000444596:p.Ser3107Pro	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P	p.S3107P			0	0	0	1.903942				56	9336	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.9319T>C		0	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	0	MYCBP2	76569857	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-13.083940	1	0.170000	NM_015057			15	15		523	517	0		1	1	1	0	0	114	319		9.998627e-01	4.589001e-01	9.990187e-01	2	24	51	378	15	523
MYCBP2	23077	broad.mit.edu	37	13	77672965	77672965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77672965T>C	ENST00000544440.2	-	56	8227	c.8210A>G	c.(8209-8211)gAt>gGt	p.D2737G	MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2775G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											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)		CTTTGCAGCATCAGATTTTAA	0.463																																						ENST00000544440.2	0.590000	0.240000	5.000000e-01	3.100000e-01	0.400000	0.413548	0.400000	0.390000																										0				118						c.(8209-8211)gAt>gGt		MYC binding protein 2, E3 ubiquitin protein ligase							134.0	122.0	126.0					13																	77672965		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77672965T>C	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.8210A>G	chr13.hg19:g.77672965T>C	ENSP00000444596:p.Asp2737Gly	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2775G	p.D2737G			0	0	0	1.903942				56	8227	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.8210A>G		0	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754548	0.49362	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.42;1.41;1.42;0.48	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.81914	0.995;0.993;0.971	T	0.63571	-0.6607	10	0.51188	T	0.08	.	15.9579	0.79902	0.0:0.0:0.0:1.0	.	123;2737;2737	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	G	2737;2775;2737;260	ENSP00000349892:D2737G;ENSP00000384288:D2775G;ENSP00000444596:D2737G;ENSP00000353197:D260G	ENSP00000349892:D2737G	D	-	2	0	0	MYCBP2	76570966	76570966	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	1		2	2	6	0		0	0	105		105	103	1	2.060000	-4.049399	1	0.170000	NM_015057			19	19		514	505	0		1	0	1	0	1	105	759		9.999893e-01	4.621673e-01	9.998515e-01	0	33	42	679	19	514
MYCBP2	23077	broad.mit.edu	37	13	77692486	77692486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77692486G>A	ENST00000360084.5	-	57	8287	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											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)		CTGAAGCTGAGGCTGCTGGAA	0.463																																						ENST00000360084.5	1.000000	0.720000	1	9.600000e-01	0.990000	0.974209	0.990000	1.000000																										0				118						c.(583-585)cCt>cTt		MYC binding protein 2, E3 ubiquitin protein ligase							25.0	23.0	24.0					13																	77692486		876	1991	2867	SO:0001583	missense	23077	0	0					g.chr13:77692486G>A	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	ENST00000360084.5:c.584C>T	chr13.hg19:g.77692486G>A	ENSP00000353197:p.Pro195Leu	0					MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron	p.P195L			0	0	0	1.903942				57	8287	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000360084.5	0	1	hg19	c.584C>T		1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751635	0.89753	.	.	ENSG00000005810	ENST00000360084	T	0.48836	0.8	5.83	4.97	0.65823	5.83	4.97	0.65823	.	.	.	.	.	T	0.64159	0.2573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67201	-0.5730	6	0.54805	T	0.06	.	16.5963	0.84797	0.0:0.1346:0.8654:0.0	.	.	.	.	L	195	ENSP00000353197:P195L	ENSP00000353197:P195L	P	-	2	0	0	MYCBP2	76590487	76590487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	1.428000	0.47296	0.655000	0.94253	CCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-18.183090	1	0.170000	NM_015057			10	9		60	54	1		1	1		0	0	16	0		9.958674e-01	6.968342e-01	0	3	0	13	0	10	60
MYCBP2	23077	broad.mit.edu	37	13	77699592	77699592	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000544440.2	-	54	7799	c.7782T>C	c.(7780-7782)tcT>tcC	p.S2594S	MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000407578.2_Silent_p.S2632S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											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)		ATGTCCCTTCAGAATTGGTTA	0.438																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(7780-7782)tcT>tcC		MYC binding protein 2, E3 ubiquitin protein ligase							262.0	221.0	235.0					13																	77699592		2203	4300	6503	SO:0001819	synonymous_variant	23077	0	0					g.chr13:77699592A>G	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.7782T>C	chr13.hg19:g.77699592A>G		0					MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.S2632S	p.S2594S			0	0	0	1.903942				54	7799	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Silent	SNP	ENST00000544440.2	1	1	hg19	c.7782T>C		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	1		2	2	2	0		0	0	244		244	244	1	2.060000	-20.000000	1	0.170000	NM_015057			196	191		863	851	1		1	0	1	0	0	244	648		1	9.981756e-01	1	1	147	42	530	196	863
MYCBP2	23077	broad.mit.edu	37	13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000544440.2	-	44	6474	c.6457G>T	c.(6457-6459)Gaa>Taa	p.E2153*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*					MYC binding protein 2, E3 ubiquitin protein ligase											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)		TCAAGAATTTCAAGGTCTTCT	0.294																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				118						c.(6457-6459)Gaa>Taa		MYC binding protein 2, E3 ubiquitin protein ligase							82.0	87.0	85.0					13																	77736067		2203	4298	6501	SO:0001587	stop_gained	23077	0	0					g.chr13:77736067C>A	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.6457G>T	chr13.hg19:g.77736067C>A	ENSP00000444596:p.Glu2153*	0					MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*	p.E2153*			0	0	0	1.903942				44	6474	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Nonsense_Mutation	SNP	ENST00000544440.2	0	1	hg19	c.6457G>T		1	.	.	.	.	.	.	.	.	.	.	C	47	13.314540	0.99734	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.055132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	2153;2191;2153	.	ENSP00000349892:E2153X	E	-	1	0	0	MYCBP2	76634068	76634068	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.249729	1	0.170000	NM_015057			62	61		308	305	0		1	1	1	0	0	78	366		1	9.502172e-01	1	2	42	25	348	62	308
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000544440.2	-	40	5896	c.5879C>T	c.(5878-5880)tCg>tTg	p.S1960L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L					MYC binding protein 2, E3 ubiquitin protein ligase											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)		GCTATCTGTCGACTGATTAGG	0.493																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				118						c.(5878-5880)tCg>tTg		MYC binding protein 2, E3 ubiquitin protein ligase							229.0	198.0	208.0					13																	77742684		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77742684G>A	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.5879C>T	chr13.hg19:g.77742684G>A	ENSP00000444596:p.Ser1960Leu	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L	p.S1960L			0	0	0	1.903942				40	5896	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.5879C>T		1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475990	0.84640	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04467	-1.0949	10	0.10111	T	0.7	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	L	1960;1998;1960	ENSP00000349892:S1960L;ENSP00000384288:S1998L;ENSP00000444596:S1960L	ENSP00000349892:S1960L	S	-	2	0	0	MYCBP2	76640685	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-3.222695	1	0.170000	NM_015057			65	63		380	369	1		1	1	1	0	0	104	1011		1	9.924028e-01	1	7	154	39	912	65	380
MYCBP2	23077	broad.mit.edu	37	13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000544440.2	-	26	3667	c.3650G>A	c.(3649-3651)cGt>cAt	p.R1217H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H					MYC binding protein 2, E3 ubiquitin protein ligase											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)		GGCACTGAAACGTATAGCTTC	0.358																																						ENST00000544440.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(3649-3651)cGt>cAt		MYC binding protein 2, E3 ubiquitin protein ligase							92.0	89.0	90.0					13																	77779470		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77779470C>T	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.3650G>A	chr13.hg19:g.77779470C>T	ENSP00000444596:p.Arg1217His	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H	p.R1217H			0	0	0	1.903942				26	3667	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.3650G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987090	0.53934	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.01	4.16	0.48862	5.01	4.16	0.48862	PHR (1);	0.071017	0.64402	D	0.000020	T	0.55321	0.1913	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	P	0.53689	0.732	T	0.65701	-0.6104	10	0.87932	D	0	.	15.345	0.74330	0.0:0.8595:0.1405:0.0	.	1217	O75592	MYCB2_HUMAN	H	1217;1255;1217	ENSP00000349892:R1217H;ENSP00000384288:R1255H;ENSP00000444596:R1217H	ENSP00000349892:R1217H	R	-	2	0	0	MYCBP2	76677471	76677471	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.484000	0.81180	1.090000	0.41315	-0.310000	0.09108	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_015057			81	78		367	362	1		1	1	1	0	0	65	519		1	9.751542e-01	1	2	95	27	487	81	367
MYCBP2	23077	broad.mit.edu	37	13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000544440.2	-	15	2221	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V					MYC binding protein 2, E3 ubiquitin protein ligase											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)		TGTACAGTCTCCACAGACAGT	0.493																																						ENST00000544440.2	0.740000	0.260000	6.100000e-01	3.500000e-01	0.470000	0.488720	0.470000	0.460000																										0				118						c.(2203-2205)gGa>gTa		MYC binding protein 2, E3 ubiquitin protein ligase							111.0	93.0	99.0					13																	77825349		2203	4300	6503	SO:0001583	missense	23077	0	0					g.chr13:77825349C>A	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.2204G>T	chr13.hg19:g.77825349C>A	ENSP00000444596:p.Gly735Val	0					MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V	p.G735V			0	0	0	1.903942				15	2221	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		Missense_Mutation	SNP	ENST00000544440.2	1	1	hg19	c.2204G>T		0	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379780	0.82682	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.53	5.53	0.82687	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55398	-0.8147	10	0.59425	D	0.04	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	735	O75592	MYCB2_HUMAN	V	735;773;735	ENSP00000349892:G735V;ENSP00000384288:G773V;ENSP00000444596:G735V	ENSP00000349892:G735V	G	-	2	0	0	MYCBP2	76723350	76723350	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.008506	1	0.170000	NM_015057			13	13		299	295	0		1	0	1	0	0	64	201		9.995225e-01	3.842108e-01	9.952227e-01	1	9	29	199	13	299
SLAIN1	122060	broad.mit.edu	37	13	78318553	78318553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78318553G>A	ENST00000466548.1	+	4	862	c.836G>A	c.(835-837)cGt>cAt	p.R279H	SLAIN1_ENST00000267219.8_Missense_Mutation_p.R60H|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R16H|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R137H|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R60H	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	279										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ATCATGGCTCGTCTGCAAGAA	0.433																																						ENST00000466548.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999541	0.990000	1.000000																										0				14						c.(835-837)cGt>cAt		SLAIN motif family, member 1							74.0	68.0	70.0					13																	78318553		2203	4299	6502	SO:0001583	missense	122060	30	121370	30				g.chr13:78318553G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.836G>A	chr13.hg19:g.78318553G>A	ENSP00000419730:p.Arg279His	0					SLAIN1_ENST00000418532.1_Missense_Mutation_p.R60H|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R60H|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R137H|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R16H	p.R279H	NM_001242868.1	NP_001229797.1	0	0	0	1.903942	Q8ND83	SLAI1_HUMAN		4	862	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	1	0	hg19	c.836G>A		1	.	.	.	.	.	.	.	.	.	.	G	34	5.379229	0.95945	.	.	ENSG00000139737	ENST00000422114;ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000446759;ENST00000488699;ENST00000377236;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000462234;ENST00000496045;ENST00000474663;ENST00000358679	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.81497	2.545	0.46260	D	0.998952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.997	D	0.84738	0.0749	9	0.87932	D	0	-16.4822	20.4496	0.99125	0.0:0.0:1.0:0.0	.	137;16;279	B7Z209;Q8ND10;Q8ND83	.;.;SLAI1_HUMAN	H	60;279;279;60;60;110;137;64;60;16;16;16;16;16;16;16	.	ENSP00000267219:R60H	R	+	2	0	0	SLAIN1	77216554	77216554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.473000	0.97714	2.838000	0.97847	0.563000	0.77884	CGT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	1	0	0		2	2	2	0		0	0	55		55	53	1	2.060000	-1.003962	0	0.170000	NM_144595			39	38		238	228	0		1	1		0	0	55	0		1	9.800902e-01	0	11	0	27	0	39	238
EDNRB	1910	broad.mit.edu	37	13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000334286.5	-	3	837	c.601C>T	c.(601-603)Cga>Tga	p.R201*	EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*|EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R291*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	201					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)			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)	GCAACAGCTCGATATCTGAAG	0.343																																						ENST00000334286.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42	GRCh37	CM020406	EDNRB	M	rs104894391	c.(601-603)Cga>Tga		endothelin receptor type B	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	84.0	93.0	90.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	601,601,871,601	4.2	1.0	13	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	201/443,201/443,291/533,201/437	78477491	1,13005	2203	4300	6503	SO:0001587	stop_gained	1910	1	121400	26				g.chr13:78477491G>A	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.601C>T	chr13.hg19:g.78477491G>A	ENSP00000335311:p.Arg201*	0					EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R291*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	p.R201*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	0	0	0	1.903942	P24530	EDNRB_HUMAN		3	837	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	0	1	hg19	c.601C>T	CCDS9461.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.588172	0.97684	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	4.23	0.50019	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3691	14.7119	0.69238	0.0:0.0:0.8544:0.1456	.	.	.	.	X	291;201;201	.	ENSP00000335311:R201X	R	-	1	2	2	EDNRB	77375492	77375492	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.477000	0.60223	2.521000	0.84997	0.650000	0.86243	CGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000				77	77		413	411	0		1	0		0	0	132	0		1	9.939836e-01	0	0	0	44	0	77	413
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000334286.5	-	1	389	c.153G>T	c.(151-153)aaG>aaT	p.K51N	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000377211.4_Missense_Mutation_p.K141N	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					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)			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)	GCCATAAGGTCTTAGTGGGTG	0.632																																						ENST00000334286.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				42						c.(151-153)aaG>aaT		endothelin receptor type B	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)						72.0	76.0	74.0					13																	78492556		2203	4300	6503	SO:0001583	missense	1910	0	0					g.chr13:78492556C>A	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.153G>T	chr13.hg19:g.78492556C>A	ENSP00000335311:p.Lys51Asn	0					EDNRB_ENST00000377211.4_Missense_Mutation_p.K141N|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	p.K51N	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	0	0	0	1.903942	P24530	EDNRB_HUMAN		1	389	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	1	1	hg19	c.153G>T	CCDS9461.1	1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195525	0.22037	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.54675	0.56;0.56;0.56	4.04	2.3	0.28687	4.04	2.3	0.28687	.	0.927486	0.09275	N	0.824652	T	0.38295	0.1035	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26708	0.157;0.003;0.023	B;B;B	0.24155	0.051;0.003;0.01	T	0.25293	-1.0136	10	0.35671	T	0.21	-2.4878	5.9342	0.19156	0.0:0.7641:0.0:0.2359	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	141;51;51	ENSP00000366416:K141N;ENSP00000403401:K51N;ENSP00000335311:K51N	ENSP00000335311:K51N	K	-	3	2	2	EDNRB	77390557	77390557	0.000000	0.05858	0.066000	0.19879	0.430000	0.31655	0.369000	0.20416	1.053000	0.40415	-0.194000	0.12790	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				49	48		251	247	1		1	0		0	0	67	0		1	9.896307e-01	0	1	0	38	0	49	251
POU4F1	5457	broad.mit.edu	37	13	79175757	79175757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	351					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				16						c.(1051-1053)aaC>aaT		POU class 4 homeobox 1							29.0	33.0	32.0					13																	79175757		2203	4300	6503	SO:0001819	synonymous_variant	5457	0	0					g.chr13:79175757G>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1053C>T	chr13.hg19:g.79175757G>A		0					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	p.N351N	NM_006237.3	NP_006228.3	0	0	0	1.903942	Q01851	PO4F1_HUMAN		2	1264	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	1	1	hg19	c.1053C>T	CCDS31996.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				51	50		218	218	0		1			0	0	47	0		1	0	0	0	0	0	0	51	218
RNF219	79596	broad.mit.edu	37	13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	532	Ser-rich.						zinc ion binding (GO:0008270)			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)		AAGGTAAGCAGCATCCATCGA	0.398																																						ENST00000282003.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				32						c.(1594-1596)gCt>gAt		ring finger protein 219							129.0	131.0	130.0					13																	79190301		2203	4300	6503	SO:0001583	missense	79596	0	0					g.chr13:79190301G>T	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.1595C>A	chr13.hg19:g.79190301G>T	ENSP00000282003:p.Ala532Asp	0					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	p.A532D	NM_024546.3	NP_078822.3	0	0	0	1.903942	Q5W0B1	RN219_HUMAN		6	1653	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	1	1	hg19	c.1595C>A	CCDS31997.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016137	0.75161	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	T	0.37210	0.0995	L	0.56769	1.78	0.53688	D	0.999979	D	0.89917	1.0	D	0.74023	0.982	T	0.01925	-1.1246	10	0.87932	D	0	-8.9543	20.2019	0.98263	0.0:0.0:1.0:0.0	.	532	Q5W0B1	RN219_HUMAN	D	532	ENSP00000282003:A532D	ENSP00000282003:A532D	A	-	2	0	0	RNF219	78088302	78088302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.934000	0.70138	2.776000	0.95493	0.655000	0.94253	GCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_024546			92	89		595	587	0		1	1		0	0	153	0		1	9.890860e-01	0	9	0	38	0	92	595
RNF219	79596	broad.mit.edu	37	13	79190435	79190435	+	Silent	SNP	C	C	T	rs375756464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	487	Ser-rich.						zinc ion binding (GO:0008270)			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)		AATTTGCTATCGTGTTCCCCT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20498	0.0		0.0	False		,,,				2504	0.0					ENST00000282003.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				32						c.(1459-1461)acG>acA		ring finger protein 219		C		2,4404	4.2+/-10.8	0,2,2201	49.0	53.0	52.0		1461	-9.0	0.2	13		52	0,8600		0,0,4300	no	coding-synonymous	RNF219	NM_024546.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		487/727	79190435	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79596	11	121412	42				g.chr13:79190435C>T	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.1461G>A	chr13.hg19:g.79190435C>T		0					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	p.T487T	NM_024546.3	NP_078822.3	0	0	0	1.903942	Q5W0B1	RN219_HUMAN		6	1519	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	1	1	hg19	c.1461G>A	CCDS31997.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-5.099033	1	0.170000	NM_024546			46	45		258	256	0		1	1		0	0	59	0		1	9.428051e-01	0	3	0	26	0	46	258
RBM26	64062	broad.mit.edu	37	13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000438724.1_Missense_Mutation_p.K47E|RBM26_ENST00000267229.7_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	47					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)			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)		TTTAACTCTTTTTCACTTTTG	0.299																																						ENST00000438737.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				33						c.(139-141)Aaa>Gaa		RNA binding motif protein 26							97.0	87.0	91.0					13																	79952975		2203	4300	6503	SO:0001583	missense	64062	0	0					g.chr13:79952975T>C	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.139A>G	chr13.hg19:g.79952975T>C	ENSP00000387531:p.Lys47Glu	0					RBM26_ENST00000438724.1_Missense_Mutation_p.K47E|RBM26_ENST00000267229.7_Missense_Mutation_p.K47E	p.K47E			0	0	0	1.903942	Q5T8P6	RBM26_HUMAN		2	579	-		Acute lymphoblastic leukemia(28;0.0279)	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	1	1	hg19	c.139A>G		1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916933	0.52546	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	5.78	5.78	0.91487	Splicing factor PWI (2);	0.053396	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.58432	D	0.999999	B;P;P;P	0.45348	0.065;0.827;0.856;0.827	B;B;P;B	0.45753	0.053;0.359;0.492;0.359	T	0.07947	-1.0746	9	.	.	.	-19.0217	12.0245	0.53362	0.0:0.0:0.144:0.856	.	47;47;47;47	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	47;48;47;47	ENSP00000267229:K47E;ENSP00000390222:K47E	.	K	-	1	0	0	RBM26	78850976	78850976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.214000	0.71695	0.528000	0.53228	AAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.999980	1	0.170000	NM_022118			36	35		125	121	1		1	1		0	0	33	0		1	9.999688e-01	0	13	0	47	0	36	125
SLITRK1	114798	broad.mit.edu	37	13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	640					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				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)		AGGATAAACACGAGCATGCCC	0.562																																						ENST00000377084.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999706	0.990000	1.000000																										0				80						c.(1918-1920)Gtg>Atg		SLIT and NTRK-like family, member 1							78.0	64.0	69.0					13																	84453725		2203	4300	6503	SO:0001583	missense	114798	0	0					g.chr13:84453725C>T	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.1918G>A	chr13.hg19:g.84453725C>T	ENSP00000366288:p.Val640Met	0						p.V640M	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	0	0	0	1.903942	Q96PX8	SLIK1_HUMAN		1	2803	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	1	1	hg19	c.1918G>A	CCDS9464.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111056	0.77210	.	.	ENSG00000178235	ENST00000377084	T	0.64991	-0.13	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72865	-0.4163	10	0.87932	D	0	-13.4456	18.3497	0.90335	0.0:1.0:0.0:0.0	.	640	Q96PX8	SLIK1_HUMAN	M	640	ENSP00000366288:V640M	ENSP00000366288:V640M	V	-	1	0	0	SLITRK1	83351726	83351726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.756000	0.94617	0.655000	0.94253	GTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_052910			29	29		137	133	1		1			0	0	35	0		1	0	0	0	0	0	0	29	137
SLITRK1	114798	broad.mit.edu	37	13	84454641	84454641	+	Silent	SNP	G	G	T	rs200425087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				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)		TGTTAGCTAAGGGTTTGTTCC	0.552																																						ENST00000377084.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				80						c.(1000-1002)ccC>ccA		SLIT and NTRK-like family, member 1							77.0	75.0	76.0					13																	84454641		2203	4300	6503	SO:0001819	synonymous_variant	114798	0	0					g.chr13:84454641G>T	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.1002C>A	chr13.hg19:g.84454641G>T		0						p.P334P	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	0	0	0	1.903942	Q96PX8	SLIK1_HUMAN		1	1887	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	1	1	hg19	c.1002C>A	CCDS9464.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.881444	1	0.170000	NM_052910			61	61		348	345	1		1			0	0	88	0		1	0	0	0	0	0	0	61	348
SLITRK1	114798	broad.mit.edu	37	13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				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)		GTCCCAAGGGTTATCCTCTAG	0.562																																						ENST00000377084.2	1.000000	0.590000	1	7.300000e-01	0.890000	0.876595	0.890000	1.000000																										0				80						c.(634-636)aAc>aCc		SLIT and NTRK-like family, member 1							70.0	68.0	69.0					13																	84455008		2203	4300	6503	SO:0001583	missense	114798	0	0					g.chr13:84455008T>G	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.635A>C	chr13.hg19:g.84455008T>G	ENSP00000366288:p.Asn212Thr	0						p.N212T	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	0	0	0	1.903942	Q96PX8	SLIK1_HUMAN		1	1520	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	1	1	hg19	c.635A>C	CCDS9464.1	1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981595	0.53827	.	.	ENSG00000178235	ENST00000377084	T	0.65732	-0.17	4.72	4.72	0.59763	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90728	0.4640	10	0.87932	D	0	-14.4397	13.1692	0.59589	0.0:0.0:0.0:1.0	.	212	Q96PX8	SLIK1_HUMAN	T	212	ENSP00000366288:N212T	ENSP00000366288:N212T	N	-	2	0	0	SLITRK1	83353009	83353009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.992000	0.58205	0.459000	0.35465	AAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_052910			23	21		262	258	0		1			0	0	61	0		9.999993e-01	0	0	0	0	0	0	23	262
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542																																						ENST00000325089.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(835-837)tCc>tAc		SLIT and NTRK-like family, member 5							80.0	82.0	81.0					13																	88328479		2203	4300	6503	SO:0001583	missense	26050	0	0					g.chr13:88328479C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.836C>A	chr13.hg19:g.88328479C>A	ENSP00000366283:p.Ser279Tyr	0					SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	p.S279Y	NM_015567.1	NP_056382.1	0	0	0	1.903942	O94991	SLIK5_HUMAN		2	1055	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	1	1	hg19	c.836C>A	CCDS9465.1	1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230717	0.58777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68641	0.3023	M	0.64567	1.98	0.54753	D	0.999983	D;D	0.64830	0.994;0.988	P;D	0.64042	0.885;0.921	T	0.66412	-0.5930	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	Y	279;38	ENSP00000366283:S279Y;ENSP00000442244:S38Y	.	S	+	2	0	0	SLITRK5	87126480	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-3.286154	1	0.170000				101	100		457	452	1		1	0		0	0	110	0		1	2.258021e-01	0	0	0	5	0	101	457
SLITRK5	26050	broad.mit.edu	37	13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	507					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527																																						ENST00000325089.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1519-1521)Ctc>Atc		SLIT and NTRK-like family, member 5							70.0	74.0	72.0					13																	88329162		2203	4300	6503	SO:0001583	missense	26050	0	0					g.chr13:88329162C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1519C>A	chr13.hg19:g.88329162C>A	ENSP00000366283:p.Leu507Ile	0					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	p.L507I	NM_015567.1	NP_056382.1	0	0	0	1.903942	O94991	SLIK5_HUMAN		2	1738	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	1	1	hg19	c.1519C>A	CCDS9465.1	1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627042	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.81659	-1.33;-1.52	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.88716	0.6512	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88461	0.3055	9	.	.	.	-15.8397	16.2866	0.82724	0.0:1.0:0.0:0.0	.	266;507	B4DSH5;O94991	.;SLIK5_HUMAN	I	507;266	ENSP00000366283:L507I;ENSP00000442244:L266I	.	L	+	1	0	0	SLITRK5	87127163	87127163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.080000	0.71299	2.426000	0.82243	0.561000	0.74099	CTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	0		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000				82	81		357	352	1		1	0		0	0	97	0		1	4.605003e-01	0	0	0	8	0	82	357
SLITRK5	26050	broad.mit.edu	37	13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512																																						ENST00000325089.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1627-1629)Ttg>Gtg		SLIT and NTRK-like family, member 5							93.0	92.0	93.0					13																	88329270		2203	4300	6503	SO:0001583	missense	26050	0	0					g.chr13:88329270T>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1627T>G	chr13.hg19:g.88329270T>G	ENSP00000366283:p.Leu543Val	0					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	p.L543V	NM_015567.1	NP_056382.1	0	0	0	1.903942	O94991	SLIK5_HUMAN		2	1846	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	1	1	hg19	c.1627T>G	CCDS9465.1	1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415636	0.42817	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59502	0.26;0.26	5.22	-0.313	0.12754	5.22	-0.313	0.12754	.	0.000000	0.64402	D	0.000004	T	0.60248	0.2254	L	0.38649	1.16	0.43942	D	0.996606	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.971	T	0.54221	-0.8326	9	.	.	.	-8.1908	9.6475	0.39877	0.0:0.6669:0.0:0.3331	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	V	543;302	ENSP00000366283:L543V;ENSP00000442244:L302V	.	L	+	1	2	2	SLITRK5	87127271	87127271	0.893000	0.30496	0.991000	0.47740	0.939000	0.58152	0.049000	0.14099	-0.041000	0.13558	-0.421000	0.06004	TTG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000				103	103		430	420	1		1	0		0	0	121	0		1	6.583614e-01	0	0	0	11	0	103	430
SLITRK5	26050	broad.mit.edu	37	13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	714					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682																																						ENST00000325089.6	0.610000	0.230000	5.100000e-01	3.100000e-01	0.390000	0.412384	0.390000	0.390000																										0				81						c.(2140-2142)tAc>tGc		SLIT and NTRK-like family, member 5							65.0	74.0	71.0					13																	88329784		2203	4300	6503	SO:0001583	missense	26050	0	0					g.chr13:88329784A>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2141A>G	chr13.hg19:g.88329784A>G	ENSP00000366283:p.Tyr714Cys	0					SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	p.Y714C	NM_015567.1	NP_056382.1	0	0	0	1.903942	O94991	SLIK5_HUMAN		2	2360	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	1	1	hg19	c.2141A>G	CCDS9465.1	0	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524587	0.44969	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.62	5.13	3.93	0.45458	5.13	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.61714	0.2369	L	0.33189	0.99	0.50467	D	0.99987	D;B	0.89917	1.0;0.356	D;B	0.74674	0.984;0.043	T	0.57370	-0.7823	9	.	.	.	-9.4438	9.5331	0.39207	0.8422:0.0:0.0:0.1578	.	473;714	B4DSH5;O94991	.;SLIK5_HUMAN	C	714;473	ENSP00000366283:Y714C;ENSP00000442244:Y473C	.	Y	+	2	0	0	SLITRK5	87127785	87127785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.792000	0.91856	0.757000	0.33036	0.454000	0.30748	TAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	0	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-15.956900	1	0.170000				16	16		437	428	0		1	0		0	0	82	0		9.999242e-01	8.330957e-03	0	0	0	4	0	16	437
GPC5	2262	broad.mit.edu	37	13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97					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)				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)				TCTACATTAAAGTTTCTAATA	0.423																																						ENST00000377067.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(289-291)aAg>aCg		glypican 5							115.0	106.0	109.0					13																	92101141		2203	4300	6503	SO:0001583	missense	2262	0	0					g.chr13:92101141A>C	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.290A>C	chr13.hg19:g.92101141A>C	ENSP00000366267:p.Lys97Thr	0						p.K97T	NM_004466.4	NP_004457.1	0	0	0	1.903942	P78333	GPC5_HUMAN		2	662	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	1	1	hg19	c.290A>C	CCDS9468.1	1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505070	0.85282	.	.	ENSG00000179399	ENST00000377067	T	0.53640	0.61	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.77103	2.36	0.44055	D	0.996794	D	0.76494	0.999	D	0.76575	0.988	T	0.73933	-0.3826	10	0.87932	D	0	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	97	P78333	GPC5_HUMAN	T	97	ENSP00000366267:K97T	ENSP00000366267:K97T	K	+	2	0	0	GPC5	90899142	90899142	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	8.887000	0.92456	2.086000	0.62901	0.383000	0.25322	AAG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_004466			72	72		321	315	1		1			0	0	91	0		1	0	0	0	0	0	0	72	321
GPC5	2262	broad.mit.edu	37	13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	558					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)				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)				TGAATCTATGACATTCACTCT	0.428																																						ENST00000377067.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				69						c.(1672-1674)Aca>Tca		glypican 5							383.0	285.0	318.0					13																	93518645		2203	4300	6503	SO:0001583	missense	2262	0	0					g.chr13:93518645A>T	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.1672A>T	chr13.hg19:g.93518645A>T	ENSP00000366267:p.Thr558Ser	0						p.T558S	NM_004466.4	NP_004457.1	0	0	0	1.903942	P78333	GPC5_HUMAN		8	2044	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	1	1	hg19	c.1672A>T	CCDS9468.1	1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784820	0.16189	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.81	-5.13	0.02884	5.81	-5.13	0.02884	.	0.874487	0.09523	N	0.790567	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.20638	-1.0269	10	0.24483	T	0.36	-0.0387	7.112	0.25396	0.4492:0.0:0.436:0.1147	.	558	P78333	GPC5_HUMAN	S	558	ENSP00000366267:T558S	ENSP00000366267:T558S	T	+	1	0	0	GPC5	92316646	92316646	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.050000	0.14120	-1.190000	0.02698	-0.417000	0.06048	ACA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_004466			66	66		423	414	1		1	0		0	0	90	0		1	0	0	0	0	1	0	66	423
DCT	1638	broad.mit.edu	37	13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	517					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438																																						ENST00000377028.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				50						c.(1549-1551)Gaa>Taa		dopachrome tautomerase							127.0	126.0	126.0					13																	95092163		2203	4300	6503	SO:0001587	stop_gained	1638	0	0					g.chr13:95092163C>A	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.1549G>T	chr13.hg19:g.95092163C>A	ENSP00000366227:p.Glu517*	0					DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	p.E517*	NM_001922.3	NP_001913.2	0	0	0	1.903942	P40126	TYRP2_HUMAN		8	1962	-	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)	Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	0	1	hg19	c.1549G>T	CCDS9470.1	1	.	.	.	.	.	.	.	.	.	.	C	40	7.959632	0.98583	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	4.02	0.46733	4.88	4.02	0.46733	.	0.109699	0.64402	D	0.000014	.	.	.	.	.	.	0.46631	D	0.999132	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7436	13.6736	0.62440	0.0:0.8104:0.1896:0.0	.	.	.	.	X	517;550	.	ENSP00000366227:E517X	E	-	1	0	0	DCT	93890164	93890164	0.998000	0.40836	0.089000	0.20774	0.806000	0.45545	4.052000	0.57420	1.093000	0.41377	0.563000	0.77884	GAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.078005	1	0.170000				65	64		365	358	1		1			0	0	55	0		1	0	0	0	0	0	0	65	365
DCT	1638	broad.mit.edu	37	13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|AL139318.1_ENST00000390768.1_RNA	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	208					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413																																						ENST00000377028.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999866	0.990000	1.000000																										0				50						c.(622-624)Gat>Tat		dopachrome tautomerase							62.0	63.0	63.0					13																	95118886		2203	4300	6503	SO:0001583	missense	1638	0	0					g.chr13:95118886C>A	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.622G>T	chr13.hg19:g.95118886C>A	ENSP00000366227:p.Asp208Tyr	0					DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|DCT_ENST00000490854.1_5'UTR|AL139318.1_ENST00000390768.1_RNA	p.D208Y	NM_001922.3	NP_001913.2	0	0	0	1.903942	P40126	TYRP2_HUMAN		3	1035	-	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)	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	1	1	hg19	c.622G>T	CCDS9470.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953366	0.92660	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99060	-5.38;-5.38	5.7	5.7	0.88788	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98965	1.0799	10	0.87932	D	0	-24.8267	19.8418	0.96692	0.0:1.0:0.0:0.0	.	208;208	Q09GT4;P40126	.;TYRP2_HUMAN	Y	208	ENSP00000366227:D208Y;ENSP00000392762:D208Y	ENSP00000366227:D208Y	D	-	1	0	0	DCT	93916887	93916887	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.379120	1	0.170000				35	34		173	172	1		1			0	0	48	0		1	0	0	0	0	0	0	35	173
DCT	1638	broad.mit.edu	37	13	95131483	95131483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	9					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527																																						ENST00000377028.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999849	0.990000	1.000000																										0				50						c.(25-27)ctG>ctA		dopachrome tautomerase							25.0	25.0	25.0					13																	95131483		2203	4299	6502	SO:0001819	synonymous_variant	1638	0	0					g.chr13:95131483C>T	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.27G>A	chr13.hg19:g.95131483C>T		0					DCT_ENST00000446125.1_Silent_p.L9L	p.L9L	NM_001922.3	NP_001913.2	0	0	0	1.903942	P40126	TYRP2_HUMAN		1	440	-	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)	Q09GT4	Silent	SNP	ENST00000377028.5	1	1	hg19	c.27G>A	CCDS9470.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				30	28		131	129	1		1			0	0	29	0		1	0	0	0	0	0	0	30	131
ABCC4	10257	broad.mit.edu	37	13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	888	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCGCTTCACATCTCTTGACGT	0.443																																						ENST00000376887.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2662-2664)gAt>gTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)						86.0	91.0	90.0					13																	95735417		2203	4300	6503	SO:0001583	missense	10257	0	0					g.chr13:95735417T>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2663A>T	chr13.hg19:g.95735417T>A	ENSP00000366084:p.Asp888Val	0					ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	p.D888V	NM_005845.3	NP_005836.2	0	0	0	1.903942	O15439	MRP4_HUMAN		21	2777	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	1	1	hg19	c.2663A>T	CCDS9474.1	1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143521	0.57044	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.89552	-2.53;-2.53	5.29	5.29	0.74685	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.088371	0.85682	D	0.000000	D	0.94328	0.8177	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.69142	0.937;0.962	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.202	0.73147	0.0:0.0:0.0:1.0	.	841;888	O15439-2;O15439	.;MRP4_HUMAN	V	841;888	ENSP00000388657:D841V;ENSP00000366084:D888V	ENSP00000366084:D888V	D	-	2	0	0	ABCC4	94533418	94533418	1.000000	0.71417	0.989000	0.46669	0.110000	0.19582	7.520000	0.81821	2.120000	0.65058	0.460000	0.39030	GAT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_005845			78	77		312	309	1		1	1		0	0	77	0		1	9.999744e-01	0	8	0	56	0	78	312
ABCC4	10257	broad.mit.edu	37	13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	789	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTAACAAGGACGTAGAATACC	0.353																																						ENST00000376887.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999376	0.990000	1.000000																										0				43						c.(2365-2367)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)						89.0	88.0	89.0					13																	95813533		2203	4300	6503	SO:0001583	missense	10257	1	121408	33				g.chr13:95813533C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2365G>A	chr13.hg19:g.95813533C>T	ENSP00000366084:p.Val789Ile	0					ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I	p.V789I	NM_005845.3	NP_005836.2	0	0	0	1.903942	O15439	MRP4_HUMAN		19	2479	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	1	1	hg19	c.2365G>A	CCDS9474.1	1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845818	0.32606	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.45	2.77	0.32553	5.45	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.171789	0.51477	N	0.000091	T	0.76630	0.4014	N	0.16266	0.395	0.38575	D	0.950049	B;B;B;B	0.18013	0.001;0.005;0.025;0.006	B;B;B;B	0.20955	0.004;0.002;0.032;0.009	T	0.65001	-0.6274	10	0.06236	T	0.91	.	11.3749	0.49722	0.0:0.8098:0.0:0.1902	.	714;742;789;789	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	742;789;714;789	ENSP00000388657:V742I;ENSP00000366084:V789I;ENSP00000442024:V714I;ENSP00000398562:V789I	ENSP00000366084:V789I	V	-	1	0	0	ABCC4	94611534	94611534	0.917000	0.31117	0.897000	0.35233	0.982000	0.71751	1.786000	0.38694	0.344000	0.23847	0.650000	0.86243	GTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-17.558300	1	0.170000	NM_005845			35	35		209	205	1		1	1		0	0	49	0		1	9.961249e-01	0	22	0	32	0	35	209
ABCC4	10257	broad.mit.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCATAGGCGTACGCTGTGTTC	0.393																																						ENST00000376887.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999579	0.990000	1.000000																										2	Substitution - Missense(2)	p.Y135H(2)	large_intestine(2)	43						c.(403-405)Tac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)						82.0	71.0	75.0					13																	95886992		2203	4300	6503	SO:0001583	missense	10257	0	0					g.chr13:95886992A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.403T>C	chr13.hg19:g.95886992A>G	ENSP00000366084:p.Tyr135His	0					ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_3'UTR	p.Y135H	NM_005845.3	NP_005836.2	0	0	0	1.903942	O15439	MRP4_HUMAN		4	517	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	1	1	hg19	c.403T>C	CCDS9474.1	1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	0	ABCC4	94684993	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_005845			25	24		109	104	1		1	1		0	0	39	0		9.999999e-01	9.981418e-01	0	2	0	45	0	25	109
DZIP1	22873	broad.mit.edu	37	13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000376829.2	-	6	1507	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	219					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)			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)			AGTGTGGCGGCGTTGAATGTG	0.408																																						ENST00000376829.2	1.000000	0.580000	1	7.200000e-01	0.900000	0.876680	0.900000	1.000000																										0				38						c.(655-657)cGc>cTc		DAZ interacting zinc finger protein 1							112.0	106.0	108.0					13																	96285517		2203	4300	6503	SO:0001583	missense	22873	0	0					g.chr13:96285517C>A	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.656G>T	chr13.hg19:g.96285517C>A	ENSP00000366025:p.Arg219Leu	0					DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L	p.R219L	NM_198968.3	NP_945319.1	0	0	0	1.903942	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)	6	1507	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	1	1	hg19	c.656G>T	CCDS9478.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437293	0.83885	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.08	4.24	0.50183	5.08	4.24	0.50183	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	0.71796	0.3382	M	0.79475	2.455	0.46011	D	0.99881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.985	T	0.76285	-0.3015	10	0.87932	D	0	-7.4353	13.7411	0.62849	0.0:0.9252:0.0:0.0748	.	219;219;219	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	219	ENSP00000257312:R219L;ENSP00000355018:R219L;ENSP00000355175:R219L;ENSP00000366025:R219L	ENSP00000257312:R219L	R	-	2	0	0	DZIP1	95083518	95083518	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	1.283000	0.44513	0.561000	0.74099	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.142696	1	0.170000	NM_014934			21	21		238	235	0		1	0		0	0	47	0		9.999978e-01	7.997864e-01	0	0	0	36	0	21	238
DZIP1	22873	broad.mit.edu	37	13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000376829.2	-	5	1318	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	156					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)			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)			GCTCTGCTCGCCGTCGCAGTG	0.607																																						ENST00000376829.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999695	0.990000	1.000000																										0				38						c.(466-468)gGc>gAc		DAZ interacting zinc finger protein 1							65.0	45.0	51.0					13																	96293679		2203	4300	6503	SO:0001583	missense	22873	0	0					g.chr13:96293679C>T	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.467G>A	chr13.hg19:g.96293679C>T	ENSP00000366025:p.Gly156Asp	0					DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D	p.G156D	NM_198968.3	NP_945319.1	0	0	0	1.903942	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)	5	1318	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	1	1	hg19	c.467G>A	CCDS9478.1	1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616484	0.14129	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.68	1.82	0.25136	4.68	1.82	0.25136	.	0.964593	0.08613	N	0.919682	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40360	0.583;0.666;0.714	B;B;P	0.45428	0.29;0.348;0.48	T	0.26538	-1.0100	10	0.33940	T	0.23	3.5486	4.333	0.11073	0.0:0.3601:0.3114:0.3285	.	156;156;156	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	156	ENSP00000257312:G156D;ENSP00000355018:G156D;ENSP00000355175:G156D;ENSP00000366025:G156D	ENSP00000257312:G156D	G	-	2	0	0	DZIP1	95091680	95091680	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.044000	0.13992	0.395000	0.25257	-0.136000	0.14681	GGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_014934			35	35		192	190	1		1	0		0	0	38	0		1	9.846208e-01	0	1	0	38	0	35	192
DNAJC3	5611	broad.mit.edu	37	13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000602402.1	+	5	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343																																						ENST00000602402.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				15						c.(439-441)cAa>cCa		DnaJ (Hsp40) homolog, subfamily C, member 3							86.0	85.0	85.0					13																	96409944		2203	4300	6503	SO:0001583	missense	5611	0	0					g.chr13:96409944A>C	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.440A>C	chr13.hg19:g.96409944A>C	ENSP00000473631:p.Gln147Pro	0					DNAJC3_ENST00000376795.6_Intron	p.Q147P	NM_006260.4	NP_006251.1	0	0	0	1.903942	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)	5	557	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	1	1	hg19	c.440A>C	CCDS9479.1	1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798940	0.70567	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.8	4.59	0.56863	5.8	4.59	0.56863	Tetratricopeptide repeat-containing (1);	0.302554	0.36893	N	0.002357	T	0.67618	0.2912	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.55615	0.78	T	0.69094	-0.5236	9	0.59425	D	0.04	-1.706	11.7769	0.51991	0.8532:0.1468:0.0:0.0	.	147	Q13217	DNJC3_HUMAN	P	147	.	ENSP00000365991:Q147P	Q	+	2	0	0	DNAJC3	95207945	95207945	1.000000	0.71417	0.605000	0.28930	0.960000	0.62799	6.778000	0.75043	0.982000	0.38575	0.482000	0.46254	CAA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				48	48		213	206	1		1	1		0	0	51	0		1	1	0	36	0	126	0	48	213
DNAJC3	5611	broad.mit.edu	37	13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000602402.1	+	12	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418																																						ENST00000602402.1	1.000000	0.700000	1	8.100000e-01	0.940000	0.923068	0.940000	1.000000																										0				15						c.(1492-1494)Aga>Gga		DnaJ (Hsp40) homolog, subfamily C, member 3							92.0	96.0	95.0					13																	96443261		2203	4300	6503	SO:0001583	missense	5611	0	0					g.chr13:96443261A>G	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1492A>G	chr13.hg19:g.96443261A>G	ENSP00000473631:p.Arg498Gly	0					DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	p.R498G	NM_006260.4	NP_006251.1	0	0	0	1.903942	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)	12	1609	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	1	1	hg19	c.1492A>G	CCDS9479.1	1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077156	0.36662	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.63	-0.607	0.11615	5.63	-0.607	0.11615	.	0.190440	0.56097	D	0.000030	T	0.28764	0.0713	N	0.08118	0	0.27402	N	0.95481	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.21655	-1.0239	9	0.54805	T	0.06	-20.008	17.5413	0.87849	0.5106:0.4894:0.0:0.0	.	498;498	A8KA82;Q13217	.;DNJC3_HUMAN	G	498	.	ENSP00000365991:R498G	R	+	1	2	2	DNAJC3	95241262	95241262	0.905000	0.30787	0.938000	0.37757	0.856000	0.48823	0.912000	0.28597	-0.154000	0.11118	-1.256000	0.01477	AGA	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3	1	0	1		2	2	2	0		0	0	106		106	107	1	2.060000	-20.000000	1	0.170000				44	41		472	464	1		1	1		0	0	106	0		1	9.999680e-01	0	16	0	148	0	44	472
MBNL2	10150	broad.mit.edu	37	13	97928576	97928576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000376673.3	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000345429.6_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	29					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)			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)			CATGCTCACGCTCTGATGAAG	0.423																																						ENST00000376673.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(85-87)cgC>cgT		muscleblind-like splicing regulator 2							151.0	139.0	143.0					13																	97928576		2203	4300	6503	SO:0001819	synonymous_variant	10150	0	0					g.chr13:97928576C>T	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.87C>T	chr13.hg19:g.97928576C>T		0					MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000345429.6_Silent_p.R29R	p.R29R			0	0	0	1.903942	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)	2	868	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	1	1	hg19	c.87C>T		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_144778			101	99		549	532	1		1	1		0	0	147	0		1	1	0	19	0	171	0	101	549
MBNL2	10150	broad.mit.edu	37	13	98043610	98043610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000376673.3	+	8	1810	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000445661.2_Silent_p.E176E			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	343					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)			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)			ACGGAATGGAATGCCAAGAAT	0.338																																						ENST00000376673.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999389	0.990000	1.000000																										0				17						c.(1027-1029)gaA>gaG		muscleblind-like splicing regulator 2							141.0	124.0	130.0					13																	98043610		2203	4300	6503	SO:0001819	synonymous_variant	10150	0	0					g.chr13:98043610A>G	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.1029A>G	chr13.hg19:g.98043610A>G		0					MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000343600.4_Silent_p.E331E	p.E343E			0	0	0	1.903942	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)	8	1810	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	1	1	hg19	c.1029A>G		1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_144778			46	45		309	301	1		1	1		0	0	67	0		1	9.999993e-01	0	13	0	132	0	46	309
RAP2A	5911	broad.mit.edu	37	13	98086853	98086853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	43					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627																																						ENST00000245304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(127-129)gaG>gaA		RAP2A, member of RAS oncogene family							118.0	110.0	113.0					13																	98086853		2203	4300	6503	SO:0001819	synonymous_variant	5911	0	0					g.chr13:98086853G>A	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.129G>A	chr13.hg19:g.98086853G>A		0						p.E43E	NM_021033.6	NP_066361.1	0	0	0	1.903942	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)	1	378	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	1	1	hg19	c.129G>A	CCDS9485.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000				106	105		529	519	1		1	1		0	0	120	0		1	9.999671e-01	0	13	0	62	0	106	529
RNF113B	140432	broad.mit.edu	37	13	98828993	98828993	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	166							zinc ion binding (GO:0008270)			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)			CCGAGGAGGAGTTGCCCATGG	0.637																																						ENST00000267291.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(496-498)aaC>aaT		ring finger protein 113B							83.0	70.0	74.0					13																	98828993		2203	4300	6503	SO:0001819	synonymous_variant	140432	0	0					g.chr13:98828993G>A	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.498C>T	chr13.hg19:g.98828993G>A		0					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	p.N166N	NM_178861.4	NP_849192.1	0	0	0	1.903942	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)	1	526	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	1	1	hg19	c.498C>T	CCDS9486.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_178861			69	69		299	294	1		1			0	0	65	0		1	0	0	0	0	0	0	69	299
RNF113B	140432	broad.mit.edu	37	13	98829110	98829110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	127							zinc ion binding (GO:0008270)			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)			TGCACTTGAGGATGGTCGGCG	0.652																																						ENST00000267291.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				18						c.(379-381)atC>atT		ring finger protein 113B							83.0	78.0	80.0					13																	98829110		2203	4300	6503	SO:0001819	synonymous_variant	140432	0	0					g.chr13:98829110G>A	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.381C>T	chr13.hg19:g.98829110G>A		0					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	p.I127I	NM_178861.4	NP_849192.1	0	0	0	1.903942	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)	1	409	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	1	1	hg19	c.381C>T	CCDS9486.1	1																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_178861			51	50		276	270	1		1			0	0	74	0		1	0	0	0	0	0	0	51	276
FARP1	10160	broad.mit.edu	37	13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000319562.6	+	13	1548	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000595437.1_Missense_Mutation_p.P428H|FARP1_ENST00000376586.2_Missense_Mutation_p.P428H	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	428					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)			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)			CACCCGAGCCCTGCGCCGAGG	0.672																																						ENST00000319562.6	1.000000	0.680000	1	8.100000e-01	0.960000	0.926334	0.960000	1.000000																										0				49						c.(1282-1284)cCt>cAt		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							16.0	22.0	20.0					13																	99047599		2193	4281	6474	SO:0001583	missense	10160	0	0					g.chr13:99047599C>A	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.1283C>A	chr13.hg19:g.99047599C>A	ENSP00000322926:p.Pro428His	0					FARP1_ENST00000376586.2_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H	p.P428H	NM_005766.2	NP_005757.1	0	0	0	1.903942	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)	13	1548	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	1	1	hg19	c.1283C>A	CCDS9487.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685884	0.68157	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79247	-1.25;-1.07	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.340804	0.30742	N	0.008966	T	0.79257	0.4415	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.43287	0.8;0.802	B;B	0.44224	0.436;0.444	T	0.82307	-0.0522	10	0.56958	D	0.05	.	17.4097	0.87482	0.0:1.0:0.0:0.0	.	428;428	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	428;133;428	ENSP00000365771:P428H;ENSP00000322926:P428H	ENSP00000322926:P428H	P	+	2	0	0	FARP1	97845600	97845600	0.971000	0.33674	0.186000	0.23195	0.007000	0.05969	2.259000	0.43259	2.095000	0.63458	0.462000	0.41574	CCT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_005766			33	33		346	338	0		1	1		0	0	47	0		1	9.953770e-01	0	3	0	86	0	33	346
FARP1	10160	broad.mit.edu	37	13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T	rs201301105	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000319562.6	+	14	1725	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000595437.1_Missense_Mutation_p.S487L|FARP1_ENST00000376586.2_Missense_Mutation_p.S487L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	487					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)			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)			TCTGTGAACTCGCAGGGGGGA	0.542																																						ENST00000319562.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1459-1461)tCg>tTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	44.0	43.0	44.0		1460	5.5	1.0	13		44	0,8600		0,0,4300	no	missense	FARP1	NM_005766.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	487/1046	99061637	1,13005	2203	4300	6503	SO:0001583	missense	10160	23	121412	44				g.chr13:99061637C>T	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.1460C>T	chr13.hg19:g.99061637C>T	ENSP00000322926:p.Ser487Leu	0					FARP1_ENST00000376586.2_Missense_Mutation_p.S487L|FARP1_ENST00000595437.1_Missense_Mutation_p.S487L	p.S487L	NM_005766.2	NP_005757.1	0	0	0	1.903942	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)	14	1725	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	1	1	hg19	c.1460C>T	CCDS9487.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245831|3.245831	0.59103|0.59103	2.27E-4|2.27E-4	0.0|0.0	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.79749	.|-1.3;-1.11	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.208188	.|0.43260	.|D	.|0.000592	T|T	0.79633|0.79633	0.4479|0.4479	M|M	0.64997|0.64997	1.995|1.995	0.46542|0.46542	D|D	0.999091|0.999091	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.09377	.|0.001;0.004	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.51188	.|T	.|0.08	.|.	17.5056|17.5056	0.87745|0.87745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|487;487	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	16|487;192;487	.|ENSP00000365771:S487L;ENSP00000322926:S487L	.|ENSP00000322926:S487L	R|S	+|+	1|2	0|0	0|0	FARP1|FARP1	97859638|97859638	97859638|97859638	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.785000|0.785000	0.44390|0.44390	4.012000|4.012000	0.57131|0.57131	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.295467	1	0.170000	NM_005766			81	79		256	253	1		1	1		0	0	66	0		1	1	0	8	0	86	0	81	256
FARP1	10160	broad.mit.edu	37	13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000319562.6	+	26	3270	c.3005T>C	c.(3004-3006)tTc>tCc	p.F1002S	FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S|FARP1_ENST00000376586.2_Missense_Mutation_p.F1033S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1002	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)			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)			AAGCTGCACTTCAAGTCCCAC	0.577																																						ENST00000319562.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3004-3006)tTc>tCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							204.0	150.0	168.0					13																	99099020		2203	4300	6503	SO:0001583	missense	10160	0	0					g.chr13:99099020T>C	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.3005T>C	chr13.hg19:g.99099020T>C	ENSP00000322926:p.Phe1002Ser	0					FARP1_ENST00000376586.2_Missense_Mutation_p.F1033S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S	p.F1002S	NM_005766.2	NP_005757.1	0	0	0	1.903942	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)	26	3270	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	1	1	hg19	c.3005T>C	CCDS9487.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.264139	0.95399	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11495	2.77;2.77	5.45	5.45	0.79879	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047789	0.85682	D	0.000000	T	0.28333	0.0700	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.00998	-1.1486	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1002;1033	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	1033;1002	ENSP00000365771:F1033S;ENSP00000322926:F1002S	ENSP00000322926:F1002S	F	+	2	0	0	FARP1	97897021	97897021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TTC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_005766			78	77		370	364	1		1	1		0	0	96	0		1	1	0	15	0	175	0	78	370
DOCK9	23348	broad.mit.edu	37	13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C|DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1170					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)			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)					CAGCAGACCAAACAGAGGCAG	0.498																																						ENST00000376460.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998234	0.990000	1.000000																										0				59						c.(3505-3507)tTt>tGt		dedicator of cytokinesis 9							46.0	46.0	46.0					13																	99515346		1979	4165	6144	SO:0001583	missense	23348	0	0					g.chr13:99515346A>C	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.3506T>G	chr13.hg19:g.99515346A>C	ENSP00000365643:p.Phe1169Cys	0					DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C|DOCK9_ENST00000461998.1_5'UTR	p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	0	0	0	1.903942	Q9BZ29	DOCK9_HUMAN		32	3586	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	1	1	hg19	c.3506T>G	CCDS45062.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388034	0.82902	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.050998	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64997	1.995	0.58432	D	0.999999	P;P;D;P;D;D	0.89917	0.933;0.928;1.0;0.515;0.988;0.999	P;P;D;B;P;P	0.85130	0.664;0.541;0.997;0.438;0.887;0.894	T	0.42616	-0.9441	10	0.87932	D	0	.	15.0737	0.72059	1.0:0.0:0.0:0.0	.	1170;1169;1170;1169;1169;1170	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1169;1170;1170;1170;1169;100;1170;1181;1169	ENSP00000365643:F1169C;ENSP00000341086:F1170C;ENSP00000401958:F1181C;ENSP00000406883:F1169C	ENSP00000341086:F1170C	F	-	2	0	0	DOCK9	98313347	98313347	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	8.905000	0.92613	2.020000	0.59435	0.459000	0.35465	TTT	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_015296			14	14		40	39	1		1	1		0	0	16	0		9.998702e-01	9.989239e-01	0	5	0	34	0	14	40
DOCK9	23348	broad.mit.edu	37	13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					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)			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)					AAAAACGGTGCGGATGCCTTT	0.403																																						ENST00000448493.2	0.990000	0.310000	8.000000e-01	4.400000e-01	0.600000	0.625345	0.600000	1.000000																										0				59						c.(40-42)cGc>cAc		dedicator of cytokinesis 9							89.0	80.0	83.0					13																	99667822		876	1991	2867	SO:0001583	missense	23348	2	113986	31				g.chr13:99667822C>T	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	ENST00000448493.2:c.41G>A	chr13.hg19:g.99667822C>T	ENSP00000401958:p.Arg14His	0					DOCK9_ENST00000339416.2_Intron	p.R14H			0	0	0	1.903942	Q9BZ29	DOCK9_HUMAN		1	151	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000448493.2	1	1	hg19	c.41G>A		0	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898014	0.52227	.	.	ENSG00000088387	ENST00000448493	T	0.23147	1.92	5.91	5.03	0.67393	5.91	5.03	0.67393	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07635	-1.0762	5	.	.	.	.	13.0188	0.58773	0.0:0.9191:0.0:0.0809	.	.	.	.	H	14	ENSP00000401958:R14H	.	R	-	2	0	0	DOCK9	98465823	98465823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.096000	0.57734	1.411000	0.46957	0.655000	0.94253	CGC	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DOCK9-203	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.330855	1	0.170000	NM_015296			10	10		177	175	0		1			0	0	51	0		9.969587e-01	0	0	0	0	0	0	10	177
GPR183	1880	broad.mit.edu	37	13	99947758	99947758	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99947758G>T	ENST00000376414.4	-	2	725	c.642C>A	c.(640-642)atC>atA	p.I214I	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	214					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAGAATAGCAGATGAGAATGA	0.393																																						ENST00000376414.4	0.930000	0.470000	8.100000e-01	5.700000e-01	0.680000	0.698426	0.680000	0.680000																										0				23						c.(640-642)atC>atA		G protein-coupled receptor 183							74.0	74.0	74.0					13																	99947758		2203	4297	6500	SO:0001819	synonymous_variant	1880	0	0					g.chr13:99947758G>T	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.642C>A	chr13.hg19:g.99947758G>T		0					UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	p.I214I	NM_004951.4	NP_004942.1	0	0	0	1.903942	P32249	GP183_HUMAN		2	725	-			B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	1	1	hg19	c.642C>A	CCDS9492.1	0																																																																																								1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	0	0	1		19	7	2	1		1	1	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_004951			30	30		458	451	0		1	0		1	0	84	0		9.559753e-01	5.779623e-01	0	0	0	115	0	30	458
UPF3A	65110	broad.mit.edu	37	13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	465					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	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)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602																																						ENST00000375299.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1393-1395)tCg>tTg		UPF3 regulator of nonsense transcripts homolog A (yeast)							35.0	36.0	36.0					13																	115070355		2203	4296	6499	SO:0001583	missense	65110	2	121410	31				g.chr13:115070355C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1394C>T	chr13.hg19:g.115070355C>T	ENSP00000364448:p.Ser465Leu	0					UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L	p.S465L	NM_023011.3	NP_075387.1	0	0	0	1.903942	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	10	1450	+	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)	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	1	1	hg19	c.1394C>T	CCDS9543.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802184	0.31869	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.77620	-1.11;-1.11	3.47	2.56	0.30785	3.47	2.56	0.30785	.	2.138080	0.03144	N	0.166950	T	0.68366	0.2993	L	0.38175	1.15	0.09310	N	1	B;B	0.26081	0.059;0.141	B;B	0.17098	0.011;0.017	T	0.51164	-0.8740	9	.	.	.	.	6.2334	0.20750	0.1828:0.7158:0.0:0.1015	.	432;465	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	L	465;432;197	ENSP00000364448:S465L;ENSP00000329592:S432L	.	S	+	2	0	0	UPF3A	114088457	114088457	0.004000	0.15560	0.001000	0.08648	0.066000	0.16364	0.321000	0.19558	0.707000	0.31934	0.563000	0.77884	TCG	1.285174e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2	1	0	1		2	2	2	0		0	0	46		46	47	1	2.060000	-20.000000	1	0.170000				48	46		168	163	0		1	1		0	0	46	0		1	9.995447e-01	0	7	0	37	0	48	168
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A	rs200138544		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617																																						ENST00000330710.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V268I(1)	large_intestine(1)	15						c.(802-804)Gtc>Atc		HHIP-like 1							48.0	38.0	41.0					14																	100119107		2203	4300	6503	SO:0001583	missense	84439	10	121412	39				g.chr14:100119107G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.802G>A	chr14.hg19:g.100119107G>A	ENSP00000330601:p.Val268Ile	0					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	p.V268I	NM_001127258.1	NP_001120730.1	0	1	1	1.986586	Q96JK4	HIPL1_HUMAN		2	900	+		Melanoma(154;0.128)	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	1	1	hg19	c.802G>A	CCDS45162.1	1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	0	HHIPL1	99188860	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	0		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	XM_041566			47	46		158	156	1		1	1		0	0	38	0		1	9.969368e-01	0	13	0	20	0	47	158
HHIPL1	84439	broad.mit.edu	37	14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A	rs369676917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	295					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18884	0.0		0.001	False		,,,				2504	0.0					ENST00000330710.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(883-885)Gtg>Atg		HHIP-like 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	29.0	30.0	30.0		883,883	4.6	1.0	14		30	0,8600		0,0,4300	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	295/783,295/609	100119188	1,13005	2203	4300	6503	SO:0001583	missense	84439	5	121406	34				g.chr14:100119188G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.883G>A	chr14.hg19:g.100119188G>A	ENSP00000330601:p.Val295Met	0					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	p.V295M	NM_001127258.1	NP_001120730.1	0	1	1	1.986586	Q96JK4	HIPL1_HUMAN		2	981	+		Melanoma(154;0.128)	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	1	1	hg19	c.883G>A	CCDS45162.1	1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350023	0.61183	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.61	4.61	0.57282	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.079955	0.51477	D	0.000094	T	0.40145	0.1105	M	0.85462	2.755	0.47819	D	0.999523	D;D	0.76494	0.999;0.995	D;P	0.69654	0.965;0.898	T	0.44620	-0.9316	10	0.72032	D	0.01	.	14.0064	0.64465	0.0:0.0:0.8484:0.1516	.	295;295	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	295	ENSP00000330601:V295M;ENSP00000349757:V295M	ENSP00000330601:V295M	V	+	1	0	0	HHIPL1	99188941	99188941	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	3.063000	0.49978	2.106000	0.64143	0.563000	0.77884	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-4.365604	1	0.170000	XM_041566			56	55		175	171	1		1	1		0	0	36	0		1	9.866149e-01	0	7	0	17	0	56	175
HHIPL1	84439	broad.mit.edu	37	14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	536					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602																																						ENST00000330710.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				15						c.(1606-1608)aAc>aCc		HHIP-like 1							114.0	95.0	101.0					14																	100129317		2203	4300	6503	SO:0001583	missense	84439	0	0					g.chr14:100129317A>C	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1607A>C	chr14.hg19:g.100129317A>C	ENSP00000330601:p.Asn536Thr	0					HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	p.N536T	NM_001127258.1	NP_001120730.1	0	1	1	1.986586	Q96JK4	HIPL1_HUMAN		6	1705	+		Melanoma(154;0.128)	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	1	1	hg19	c.1607A>C	CCDS45162.1	1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956543	0.34565	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13657	5.03;2.57	4.87	4.87	0.63330	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054883	0.64402	D	0.000001	T	0.07683	0.0193	N	0.04746	-0.17	0.58432	D	0.999992	B;B	0.13145	0.005;0.007	B;B	0.25614	0.062;0.006	T	0.29243	-1.0018	10	0.13470	T	0.59	.	14.5057	0.67750	1.0:0.0:0.0:0.0	.	536;536	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	536	ENSP00000330601:N536T;ENSP00000349757:N536T	ENSP00000330601:N536T	N	+	2	0	0	HHIPL1	99199070	99199070	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.474000	0.81024	1.840000	0.53500	0.533000	0.62120	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	XM_041566			47	44		282	275	1		1	1		0	0	90	0		1	9.558819e-01	0	4	0	29	0	47	282
CYP46A1	10858	broad.mit.edu	37	14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532																																						ENST00000261835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(259-261)Gtc>Atc		cytochrome P450, family 46, subfamily A, polypeptide 1							181.0	156.0	164.0					14																	100158175		2203	4300	6503	SO:0001583	missense	10858	2	121412	33				g.chr14:100158175G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.259G>A	chr14.hg19:g.100158175G>A	ENSP00000261835:p.Val87Ile	0					RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	p.V87I	NM_006668.1	NP_006659.1	0	1	1	1.986586	Q9Y6A2	CP46A_HUMAN		3	363	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	1	1	hg19	c.259G>A	CCDS9954.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.791|7.791	0.711580|0.711580	0.15306|0.15306	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.68181	.|-0.31	4.32|4.32	-0.929|-0.929	0.10444|0.10444	4.32|4.32	-0.929|-0.929	0.10444|0.10444	.|.	.|0.288191	.|0.32401	.|N	.|0.006142	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12837	.|0.008	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.09843	.|T	.|0.71	.|.	8.9458|8.9458	0.35758|0.35758	0.5097:0.0:0.4903:0.0|0.5097:0.0:0.4903:0.0	.|.	.|87	.|Q9Y6A2	.|CP46A_HUMAN	H|I	73|87	.|ENSP00000261835:V87I	.|ENSP00000261835:V87I	R|V	+|+	2|1	0|0	0|0	CYP46A1|CYP46A1	99227928|99227928	99227928|99227928	0.013000|0.013000	0.17824|0.17824	0.987000|0.987000	0.45799|0.45799	0.403000|0.403000	0.30841|0.30841	-0.464000|-0.464000	0.06688|0.06688	-0.298000|-0.298000	0.08921|0.08921	-1.119000|-1.119000	0.02030|0.02030	CGT|GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				64	64		270	268	1		1	0		0	0	74	0		1	0	0	0	0	1	0	64	270
CYP46A1	10858	broad.mit.edu	37	14	100187648	100187648	+	Silent	SNP	G	G	A	rs370665505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000261835.3	+	11	1157	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CYP46A1_ENST00000423126.2_Silent_p.Q254Q|CYP46A1_ENST00000554176.1_Silent_p.Q198Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	351					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17685	0.0		0.0	False		,,,				2504	0.0					ENST00000261835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1051-1053)caG>caA		cytochrome P450, family 46, subfamily A, polypeptide 1		G		1,4405	2.1+/-5.4	0,1,2202	135.0	110.0	119.0		1053	4.2	1.0	14		119	0,8600		0,0,4300	no	coding-synonymous	CYP46A1	NM_006668.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		351/501	100187648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10858	0	0					g.chr14:100187648G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1053G>A	chr14.hg19:g.100187648G>A		0					CYP46A1_ENST00000554176.1_Silent_p.Q198Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	p.Q351Q	NM_006668.1	NP_006659.1	0	1	1	1.986586	Q9Y6A2	CP46A_HUMAN		11	1157	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	1	1	hg19	c.1053G>A	CCDS9954.1	1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.909957	0.17833	2.27E-4	0.0	ENSG00000036530	ENST00000380228	.	.	.	5.07	4.19	0.49359	5.07	4.19	0.49359	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.1049	0.42528	0.0931:0.0:0.9069:0.0	.	.	.	.	I	338	.	.	V	+	1	0	0	CYP46A1	99257401	99257401	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	1.296000	0.44742	-0.224000	0.12420	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				42	40		195	190	1		1			0	0	29	0		1	0	0	0	0	0	0	42	195
EML1	2009	broad.mit.edu	37	14	100367375	100367375	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000327921.9_Splice_Site_p.S324Y|EML1_ENST00000334192.4_Splice_Site_p.S355Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	336	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)			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)				TTCTCAAAATCTGTAAGTATG	0.458																																						ENST00000262233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1006-1008)tCt>tAt		echinoderm microtubule associated protein like 1							218.0	191.0	200.0					14																	100367375		2203	4300	6503	SO:0001630	splice_region_variant	2009	0	0					g.chr14:100367375C>A	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.1008+1C>A	chr14.hg19:g.100367375C>A		0					EML1_ENST00000327921.9_Splice_Site_p.S324Y|EML1_ENST00000334192.4_Splice_Site_p.S355Y	p.S336Y	NM_004434.2	NP_004425.2	0	1	1	1.986586	O00423	EMAL1_HUMAN		9	1146	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Splice_Site	SNP	ENST00000262233.6	1	0	hg19	c.1007C>A	CCDS32155.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927097	0.92389	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.30448	2.74;1.58;1.53;1.58	5.34	5.34	0.76211	5.34	5.34	0.76211	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	0.57740	0.2074	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.982;1.0;0.999	D;D;P;D;D	0.91635	0.998;0.994;0.839;0.999;0.996	T	0.61168	-0.7117	10	0.87932	D	0	-18.0254	19.0383	0.92987	0.0:1.0:0.0:0.0	.	324;324;336;355;355	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Y	323;324;336;355;355	ENSP00000451346:S323Y;ENSP00000327384:S324Y;ENSP00000262233:S336Y;ENSP00000334314:S355Y	ENSP00000262233:S336Y	S	+	2	0	0	EML1	99437128	99437128	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	7.355000	0.79434	2.491000	0.84063	0.591000	0.81541	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001008707	Missense_Mutation		65	65		295	288	1		1	1		0	0	74	0		1	9.997061e-01	0	9	0	48	0	65	295
EML1	2009	broad.mit.edu	37	14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	710	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)			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)				AGTCGTAAGTGTGGAAACTAC	0.483																																						ENST00000262233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2128-2130)Gtg>Atg		echinoderm microtubule associated protein like 1							269.0	231.0	244.0					14																	100404186		2203	4300	6503	SO:0001583	missense	2009	0	0					g.chr14:100404186G>A	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.2128G>A	chr14.hg19:g.100404186G>A	ENSP00000262233:p.Val710Met	0					EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	p.V710M	NM_004434.2	NP_004425.2	0	1	1	1.986586	O00423	EMAL1_HUMAN		20	2267	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	1	1	hg19	c.2128G>A	CCDS32155.1	1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993268	0.54041	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18174	2.23;2.23;2.23	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.13098	0.295	0.80722	D	1	B;B;B	0.30326	0.156;0.004;0.276	B;B;B	0.39185	0.151;0.004;0.293	T	0.16958	-1.0385	10	0.40728	T	0.16	-8.1253	18.1469	0.89661	0.0:0.0:1.0:0.0	.	698;710;729	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	M	698;710;729;729	ENSP00000327384:V698M;ENSP00000262233:V710M;ENSP00000334314:V729M	ENSP00000262233:V710M	V	+	1	0	0	EML1	99473939	99473939	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.549000	0.82163	2.364000	0.80123	0.561000	0.74099	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_001008707			80	79		428	419	1		1	1		0	0	112	0		1	9.999778e-01	0	14	0	70	0	80	428
EML1	2009	broad.mit.edu	37	14	100405613	100405613	+	Silent	SNP	C	C	T	rs542054890	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	757	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)			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)				TGTCAACAGGCGACGACTTTG	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.002					ENST00000262233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2269-2271)ggC>ggT		echinoderm microtubule associated protein like 1							128.0	116.0	120.0					14																	100405613		2203	4300	6503	SO:0001819	synonymous_variant	2009	31	121412	43				g.chr14:100405613C>T	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.2271C>T	chr14.hg19:g.100405613C>T		0					EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	p.G757G	NM_004434.2	NP_004425.2	0	1	1	1.986586	O00423	EMAL1_HUMAN		21	2410	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	1	1	hg19	c.2271C>T	CCDS32155.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.513255	1	0.170000	NM_001008707			62	63		251	250	1		1	1		0	0	75	0		1	9.999959e-01	0	15	0	62	0	62	251
YY1	7528	broad.mit.edu	37	14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	46	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				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)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711																																						ENST00000262238.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997232	0.990000	1.000000																										0				11						c.(136-138)Gag>Tag		YY1 transcription factor							22.0	16.0	18.0					14																	100705717		2172	4266	6438	SO:0001587	stop_gained	7528	0	0					g.chr14:100705717G>T	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.136G>T	chr14.hg19:g.100705717G>T	ENSP00000262238:p.Glu46*	0					RP11-638I2.4_ENST00000554537.1_RNA	p.E46*	NM_003403.3	NP_003394.1	0	1	1	1.986586	P25490	TYY1_HUMAN		1	396	+		Melanoma(154;0.152)	Q14935	Nonsense_Mutation	SNP	ENST00000262238.4	0	1	hg19	c.136G>T	CCDS9957.1	1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.779841	0.90195	.	.	ENSG00000100811	ENST00000262238	.	.	.	1.92	0.98	0.19750	1.92	0.98	0.19750	.	0.232106	0.24786	U	0.035613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0713	0.25179	0.1539:0.0:0.8461:0.0	.	.	.	.	X	46	.	ENSP00000262238:E46X	E	+	1	0	0	YY1	99775470	99775470	1.000000	0.71417	0.136000	0.22124	0.761000	0.43186	2.646000	0.46630	0.152000	0.19188	0.538000	0.68166	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	1	0	1		2	2	2	0		0	0	15		15	13	1	2.060000	-20.000000	1	0.170000	NM_003403			12	11		61	64	0		1	1		0	0	15	0		9.994886e-01	9.961243e-01	0	18	0	35	0	12	61
SLC25A29	123096	broad.mit.edu	37	14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000359232.3	-	4	578	c.278T>C	c.(277-279)cTc>cCc	p.L93P	SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000554912.1_Missense_Mutation_p.L27P|AL157871.2_ENST00000553954.1_RNA|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000392908.3_Silent_p.P78P	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	93						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706																																						ENST00000359232.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998910	0.990000	1.000000																										0				3						c.(277-279)cTc>cCc		solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	L-Carnitine(DB00583)						9.0	12.0	11.0					14																	100759254		2127	4178	6305	SO:0001583	missense	123096	0	0					g.chr14:100759254A>G	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"""Solute carriers"""	20116	protein-coding gene	gene with protein product		615064	"""chromosome 14 open reading frame 69"", ""solute carrier family 25, member 29"""	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.278T>C	chr14.hg19:g.100759254A>G	ENSP00000352167:p.Leu93Pro	0					SLC25A29_ENST00000392908.3_Silent_p.P78P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000554912.1_Missense_Mutation_p.L27P	p.L93P	NM_001039355.1	NP_001034444.1	0	1	1	1.986586	Q8N8R3	MCATL_HUMAN		4	578	-		Melanoma(154;0.152)	A3KMR5|Q541V0	Missense_Mutation	SNP	ENST00000359232.3	0	1	hg19	c.278T>C	CCDS32156.1	1	.	.	.	.	.	.	.	.	.	.	A	9.282	1.048416	0.19827	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927;ENST00000554291	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.99	4.99	0.66335	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.498441	0.20697	N	0.087352	T	0.79592	0.4472	L	0.39326	1.205	0.80722	D	1	P	0.38788	0.647	P	0.46419	0.516	T	0.77707	-0.2487	10	0.33940	T	0.23	-8.3233	14.6953	0.69118	1.0:0.0:0.0:0.0	.	93	Q8N8R3	MCATL_HUMAN	P	93;27;27;27;27;27	ENSP00000352167:L93P;ENSP00000450913:L27P;ENSP00000442985:L27P;ENSP00000452446:L27P;ENSP00000452078:L27P;ENSP00000452324:L27P	ENSP00000352167:L93P	L	-	2	0	0	SLC25A29	99829007	99829007	0.989000	0.36119	0.675000	0.29917	0.023000	0.10783	2.824000	0.48088	1.883000	0.54544	0.460000	0.39030	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000				15	14		75	71	1		1	1		0	0	15	0		9.998767e-01	9.971130e-01	0	11	0	42	0	15	75
WARS	7453	broad.mit.edu	37	14	100813093	100813093	+	Silent	SNP	G	G	A	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000556645.1_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Silent_p.S272S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	272					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473																																						ENST00000355338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(814-816)agC>agT		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)	G	,,,	0,4406		0,0,2203	146.0	107.0	120.0		816,816,693,693	-5.3	0.9	14	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WARS	NM_004184.3,NM_173701.1,NM_213645.1,NM_213646.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	272/472,272/472,231/431,231/431	100813093	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7453	5	121412	36				g.chr14:100813093G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.816C>T	chr14.hg19:g.100813093G>A		0					WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000557135.1_Silent_p.S272S	p.S272S	NM_173701.1	NP_776049.1	0	1	1	1.986586	P23381	SYWC_HUMAN		7	1434	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	1	1	hg19	c.816C>T	CCDS9960.1	1	.	.	.	.	.	.	.	.	.	.	G	1.204	-0.631742	0.03584	0.0	1.16E-4	ENSG00000140105	ENST00000554601	.	.	.	5.79	-5.31	0.02730	5.79	-5.31	0.02730	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63225	-0.6685	4	.	.	.	-5.3317	13.9893	0.64355	0.5038:0.0:0.4962:0.0	.	.	.	.	V	25	.	.	A	-	2	0	0	WARS	99882846	99882846	0.775000	0.28604	0.912000	0.35992	0.023000	0.10783	0.026000	0.13599	-1.029000	0.03317	-0.982000	0.02568	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.285716	1	0.170000	NM_004184			50	50		221	217	1		1	1		0	0	44	0		1	1	0	777	0	1769	0	50	221
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418																																						ENST00000355338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(316-318)Cgg>Tgg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						152.0	141.0	144.0					14																	100826997		2203	4300	6503	SO:0001583	missense	7453	0	0					g.chr14:100826997G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	chr14.hg19:g.100826997G>A	ENSP00000347495:p.Arg106Trp	0					WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W	p.R106W	NM_173701.1	NP_776049.1	0	1	1	1.986586	P23381	SYWC_HUMAN		4	934	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	0	1	hg19	c.316C>T	CCDS9960.1	1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	2	WARS	99896750	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_004184			64	63		261	259	0		1	1		0	0	59	0		1	1	0	724	0	1039	0	64	261
WARS	7453	broad.mit.edu	37	14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	68					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483																																						ENST00000355338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(202-204)Gca>Tca		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						223.0	210.0	214.0					14																	100828156		2203	4300	6503	SO:0001583	missense	7453	0	0					g.chr14:100828156C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.202G>T	chr14.hg19:g.100828156C>A	ENSP00000347495:p.Ala68Ser	0					WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S	p.A68S	NM_173701.1	NP_776049.1	0	1	1	1.986586	P23381	SYWC_HUMAN		3	820	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	1	1	hg19	c.202G>T	CCDS9960.1	1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483647	0.26598	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.13;0.96;1.13;0.96;1.13;0.96;0.92;0.92;1.13;0.96;0.96;0.96;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.67	-1.88	0.07713	5.67	-1.88	0.07713	WHEP-TRS (1);	0.826647	0.11454	N	0.562476	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29366	-1.0014	10	0.06891	T	0.86	-1.0898	2.7529	0.05286	0.109:0.4165:0.1068:0.3677	.	68	P23381	SYWC_HUMAN	S	68;27;68;27;68;27;27;27;68;27;27;27;68;68;102;68;68;68;68;68;68;102;68;68	ENSP00000376620:A68S;ENSP00000351481:A27S;ENSP00000347495:A68S;ENSP00000339485:A27S;ENSP00000451460:A68S;ENSP00000451887:A27S;ENSP00000451490:A27S;ENSP00000451251:A27S;ENSP00000450500:A68S;ENSP00000451599:A27S;ENSP00000452519:A27S;ENSP00000451544:A27S;ENSP00000450427:A68S;ENSP00000451349:A68S;ENSP00000450934:A102S;ENSP00000451469:A68S;ENSP00000451402:A68S;ENSP00000452550:A68S;ENSP00000451906:A68S;ENSP00000451716:A68S;ENSP00000450563:A68S;ENSP00000451894:A102S;ENSP00000451027:A68S;ENSP00000450978:A68S	ENSP00000339485:A27S	A	-	1	0	0	WARS	99897909	99897909	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	-0.164000	0.10927	-0.140000	0.14226	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_004184			90	86		386	380	1		1	1		0	0	117	0		1	1	0	807	0	1954	0	90	386
WDR25	79446	broad.mit.edu	37	14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000554175.1_Missense_Mutation_p.S162N|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468																																						ENST00000335290.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(484-486)aGc>aAc		WD repeat domain 25							81.0	91.0	88.0					14																	100847746		2203	4300	6503	SO:0001583	missense	79446	0	0					g.chr14:100847746G>A	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.485G>A	chr14.hg19:g.100847746G>A	ENSP00000334148:p.Ser162Asn	0					WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.S162N|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N	p.S162N	NM_024515.4	NP_078791.3	0	1	1	1.986586	Q64LD2	WDR25_HUMAN		2	711	+		Melanoma(154;0.212)	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	1	1	hg19	c.485G>A	CCDS32157.1	1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089731	0.20390	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.78	5.53	0.307	0.15811	5.53	0.307	0.15811	.	0.568068	0.17771	N	0.162570	T	0.44329	0.1288	L	0.35854	1.095	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.22068	-1.0227	10	0.35671	T	0.21	-8.6233	4.6728	0.12698	0.3262:0.0:0.5353:0.1385	.	162	Q64LD2	WDR25_HUMAN	N	162	ENSP00000450661:S162N;ENSP00000385540:S162N;ENSP00000334148:S162N;ENSP00000450727:S162N	ENSP00000334148:S162N	S	+	2	0	0	WDR25	99917499	99917499	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.463000	0.06696	-0.223000	0.09943	-0.345000	0.07892	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	1	0	0		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_024515			126	125		597	587	1		1	1		0	0	116	0		1	9.267925e-01	0	9	0	14	0	126	597
WDR25	79446	broad.mit.edu	37	14	100847801	100847801	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000554175.1_Silent_p.R180R|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000554998.1_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537																																						ENST00000335290.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(538-540)agA>agG		WD repeat domain 25							81.0	90.0	87.0					14																	100847801		2203	4300	6503	SO:0001819	synonymous_variant	79446	0	0					g.chr14:100847801A>G	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.540A>G	chr14.hg19:g.100847801A>G		0					WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000554175.1_Silent_p.R180R|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Silent_p.R180R	p.R180R	NM_024515.4	NP_078791.3	0	1	1	1.986586	Q64LD2	WDR25_HUMAN		2	766	+		Melanoma(154;0.212)	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	1	1	hg19	c.540A>G	CCDS32157.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	1	0	0		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_024515			169	167		619	607	1		1	1		0	0	110	0		1	9.979201e-01	0	14	0	22	0	169	619
DLK1	8788	broad.mit.edu	37	14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	241	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677																																						ENST00000341267.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(721-723)Ggt>Tgt		delta-like 1 homolog (Drosophila)							37.0	43.0	41.0					14																	101200802		2202	4300	6502	SO:0001583	missense	8788	0	0					g.chr14:101200802G>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.721G>T	chr14.hg19:g.101200802G>T	ENSP00000340292:p.Gly241Cys	0					DLK1_ENST00000331224.6_Intron	p.G241C	NM_003836.5	NP_003827	0	1	1	1.986586	P80370	DLK1_HUMAN		5	963	+		Melanoma(154;0.155)	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	1	1	hg19	c.721G>T	CCDS9963.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953983	0.73902	.	.	ENSG00000185559	ENST00000341267	D	0.99121	-5.45	4.46	4.46	0.54185	4.46	4.46	0.54185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	.	.	.	.	16.1202	0.81346	0.0:0.0:1.0:0.0	.	241	P80370	DLK1_HUMAN	C	241	ENSP00000340292:G241C	.	G	+	1	0	0	DLK1	100270555	100270555	1.000000	0.71417	0.175000	0.22980	0.825000	0.46686	9.183000	0.94887	2.031000	0.59945	0.491000	0.48974	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.794413	1	0.170000				101	100		387	383	1		1	0		0	0	81	0		1	8.917872e-01	0	0	0	17	0	101	387
DIO3	1735	broad.mit.edu	37	14	102028103	102028103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000510508.4	+	1	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.G64G			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	90					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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647																																						ENST00000510508.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(268-270)ggC>ggT		deiodinase, iodothyronine, type III							43.0	48.0	47.0					14																	102028103		1976	4126	6102	SO:0001819	synonymous_variant	1735	0	0					g.chr14:102028103C>T	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.270C>T	chr14.hg19:g.102028103C>T		0					DIO3_ENST00000359323.3_Silent_p.G64G|DIO3OS_ENST00000408206.1_lincRNA	p.G90G			0	1	1	1.986586	P55073	IOD3_HUMAN		1	416	+		all_neural(303;0.185)	G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	1	1	hg19	c.270C>T	CCDS41992.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	0	0		2	2	2	0		0	0	80		80	78	1	2.060000	-3.318969	1	0.170000	NM_001362			72	70		435	428	1		1	1		0	0	80	0		1	3.201617e-01	0	2	0	6	0	72	435
DIO3	1735	broad.mit.edu	37	14	102028265	102028265	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000510508.4	+	1	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.D118D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	144					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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637																																						ENST00000510508.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(430-432)gaC>gaT		deiodinase, iodothyronine, type III							40.0	45.0	43.0					14																	102028265		2040	4185	6225	SO:0001819	synonymous_variant	1735	0	0					g.chr14:102028265C>T	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.432C>T	chr14.hg19:g.102028265C>T		0					DIO3_ENST00000359323.3_Silent_p.D118D|DIO3OS_ENST00000408206.1_lincRNA	p.D144D			0	1	1	1.986586	P55073	IOD3_HUMAN		1	578	+		all_neural(303;0.185)	G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	1	1	hg19	c.432C>T	CCDS41992.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_001362			90	89		403	397	0		1	0		0	0	83	0		1	3.051722e-01	0	1	0	5	0	90	403
PPP2R5C	5527	broad.mit.edu	37	14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000334743.5	+	9	949	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	301					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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443																																						ENST00000334743.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(901-903)Gaa>Taa		protein phosphatase 2, regulatory subunit B', gamma							122.0	117.0	119.0					14																	102368104		2203	4300	6503	SO:0001587	stop_gained	5527	0	0					g.chr14:102368104G>T	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.901G>T	chr14.hg19:g.102368104G>T	ENSP00000333905:p.Glu301*	0					PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*	p.E301*	NM_002719.3	NP_002710.2	0	1	1	1.986586	Q13362	2A5G_HUMAN		9	949	+			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Nonsense_Mutation	SNP	ENST00000334743.5	0	1	hg19	c.901G>T	CCDS9964.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.606893	0.97701	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.28	4.39	0.52855	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6198	13.7895	0.63131	0.074:0.0:0.926:0.0	.	.	.	.	X	332;356;330;301;199;301;301;301;97	.	ENSP00000329009:E356X	E	+	1	0	0	PPP2R5C	101437857	101437857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	1.221000	0.43506	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_002719			99	97		407	402	1		1	1		0	0	83	0		1	1	0	12	0	236	0	99	407
DYNC1H1	1778	broad.mit.edu	37	14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	284	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)			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						TTGGAACGTGCGTTATACCGC	0.463																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998529	0.990000	1.000000																										0				166						c.(850-852)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							103.0	102.0	102.0					14																	102446777		2203	4300	6503	SO:0001583	missense	1778	2	121412	30				g.chr14:102446777C>T	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.851C>T	chr14.hg19:g.102446777C>T	ENSP00000348965:p.Ala284Val	0						p.A284V	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		5	1015	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.851C>T	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828299	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.24	5.24	0.73138	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82104	-0.0622	10	0.41790	T	0.15	.	19.1779	0.93611	0.0:1.0:0.0:0.0	.	284	Q14204	DYHC1_HUMAN	V	284	ENSP00000348965:A284V	ENSP00000348965:A284V	A	+	2	0	0	DYNC1H1	101516530	101516530	1.000000	0.71417	0.889000	0.34880	0.305000	0.27757	7.383000	0.79741	2.601000	0.87937	0.591000	0.81541	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.318801	1	0.170000	NM_001376			41	41		313	312	1		1	0		0	0	57	0		1	9.992513e-01	0	1	0	84	0	41	313
DYNC1H1	1778	broad.mit.edu	37	14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	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)			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						GAAGGCATTGCGTTGGTGTGG	0.502																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(2461-2463)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							117.0	105.0	109.0					14																	102453024		2203	4300	6503	SO:0001583	missense	1778	0	0					g.chr14:102453024C>T	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.2462C>T	chr14.hg19:g.102453024C>T	ENSP00000348965:p.Ala821Val	0						p.A821V	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		8	2626	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.2462C>T	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536019	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.52	5.52	0.82312	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.106999	0.64402	D	0.000004	T	0.45337	0.1337	L	0.40543	1.245	0.54753	D	0.999985	B	0.32051	0.354	B	0.24269	0.052	T	0.31971	-0.9924	10	0.31617	T	0.26	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	821	Q14204	DYHC1_HUMAN	V	821	ENSP00000348965:A821V	ENSP00000348965:A821V	A	+	2	0	0	DYNC1H1	101522777	101522777	1.000000	0.71417	0.276000	0.24689	0.607000	0.37147	7.425000	0.80255	2.767000	0.95098	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_001376			86	84		337	331	1		1	1		0	0	101	0		1	1	0	34	0	98	0	86	337
DYNC1H1	1778	broad.mit.edu	37	14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1378	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)			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						TGCCCGGTTGCGACAGTATGC	0.473																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(4132-4134)Cga>Tga		dynein, cytoplasmic 1, heavy chain 1							139.0	144.0	142.0					14																	102467348		2203	4300	6503	SO:0001587	stop_gained	1778	0	0					g.chr14:102467348C>T	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.4132C>T	chr14.hg19:g.102467348C>T	ENSP00000348965:p.Arg1378*	0						p.R1378*	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		19	4296	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	0	1	hg19	c.4132C>T	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.575953	0.99430	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000348965:R1378X	R	+	1	2	2	DYNC1H1	101537101	101537101	1.000000	0.71417	0.970000	0.41538	0.379000	0.30106	6.135000	0.71696	2.767000	0.95098	0.563000	0.77884	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-20.000000	1	0.170000	NM_001376			151	143		653	636	1		1	1		0	0	148	0		1	1	0	3	0	140	0	151	653
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	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)			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						TACTTTGACCCTAAGCAAACT	0.418																																						ENST00000360184.4	1.000000	0.800000	1	9.100000e-01	0.990000	0.971492	0.990000	1.000000																										0				166						c.(5542-5544)cCt>cAt		dynein, cytoplasmic 1, heavy chain 1							151.0	142.0	145.0					14																	102472334		2203	4300	6503	SO:0001583	missense	1778	0	0					g.chr14:102472334C>A	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.5543C>A	chr14.hg19:g.102472334C>A	ENSP00000348965:p.Pro1848His	0						p.P1848H	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		27	5707	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.5543C>A	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	0	DYNC1H1	101542087	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-2.578431	1	0.170000	NM_001376			60	60		612	602	0		1	1		0	0	149	0		1	9.989285e-01	0	2	0	102	0	60	612
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2. {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)			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						CGTACTTCACGTCCAACGGCC	0.532																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(7282-7284)acG>acA		dynein, cytoplasmic 1, heavy chain 1							102.0	82.0	89.0					14																	102482234		2203	4300	6503	SO:0001819	synonymous_variant	1778	15	121412	42				g.chr14:102482234G>A	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.7284G>A	chr14.hg19:g.102482234G>A		0						p.T2428T	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		36	7448	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	1	1	hg19	c.7284G>A	CCDS9966.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001376			50	47		188	185	1		1	1		0	0	44	0		1	1	0	40	0	102	0	50	188
DYNC1H1	1778	broad.mit.edu	37	14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3002	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)			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						TGTGTTAGATTCTGGATTCCT	0.433																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(9004-9006)Tct>Cct		dynein, cytoplasmic 1, heavy chain 1							120.0	115.0	116.0					14																	102493837		2203	4300	6503	SO:0001583	missense	1778	0	0					g.chr14:102493837T>C	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.9004T>C	chr14.hg19:g.102493837T>C	ENSP00000348965:p.Ser3002Pro	0						p.S3002P	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		46	9168	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.9004T>C	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653962	0.67472	.	.	ENSG00000197102	ENST00000360184	T	0.43294	0.95	5.7	5.7	0.88788	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.120080	0.64402	D	0.000015	T	0.50922	0.1644	L	0.39085	1.19	0.80722	D	1	D	0.53462	0.96	P	0.58077	0.832	T	0.49978	-0.8881	10	0.51188	T	0.08	.	15.961	0.79930	0.0:0.0:0.0:1.0	.	3002	Q14204	DYHC1_HUMAN	P	3002	ENSP00000348965:S3002P	ENSP00000348965:S3002P	S	+	1	0	0	DYNC1H1	101563590	101563590	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	7.755000	0.85180	2.168000	0.68352	0.491000	0.48974	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	0		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_001376			104	102		487	478	1		1	1		0	0	104	0		1	1	0	73	0	145	0	104	487
DYNC1H1	1778	broad.mit.edu	37	14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3005	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)			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						TTCTGGATTCCTGGAGCGAAT	0.433																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(9013-9015)Ctg>Atg		dynein, cytoplasmic 1, heavy chain 1							123.0	117.0	119.0					14																	102493846		2203	4300	6503	SO:0001583	missense	1778	0	0					g.chr14:102493846C>A	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.9013C>A	chr14.hg19:g.102493846C>A	ENSP00000348965:p.Leu3005Met	0						p.L3005M	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		46	9177	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.9013C>A	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566117	0.65651	.	.	ENSG00000197102	ENST00000360184	T	0.58358	0.34	5.71	2.65	0.31530	5.71	2.65	0.31530	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.073611	0.56097	D	0.000040	T	0.80048	0.4552	H	0.98295	4.195	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.81595	-0.0861	10	0.87932	D	0	.	8.3586	0.32346	0.0:0.5972:0.0:0.4028	.	3005	Q14204	DYHC1_HUMAN	M	3005	ENSP00000348965:L3005M	ENSP00000348965:L3005M	L	+	1	2	2	DYNC1H1	101563599	101563599	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.192000	0.32150	0.641000	0.30601	-0.192000	0.12808	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	0		2	2	2	0		0	0	110		110	110	1	2.060000	-2.977356	1	0.170000	NM_001376			104	102		514	504	1		1	1		0	0	110	0		1	1	0	69	0	152	0	104	514
DYNC1H1	1778	broad.mit.edu	37	14	102498609	102498609	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9884C>A	c.(9883-9885)gCt>gAt	p.A3295D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3295	Stalk. {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)			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						TGCCACTCAGCTGTGAAGTCG	0.567																																						ENST00000360184.4	0.280000	0.120000	2.400000e-01	1.500000e-01	0.190000	0.205378	0.190000	0.200000																										0				166						c.(9883-9885)gCt>gAt		dynein, cytoplasmic 1, heavy chain 1							210.0	198.0	202.0					14																	102498609		2203	4300	6503	SO:0001630	splice_region_variant	1778	0	0					g.chr14:102498609C>A	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.9884-1C>A	chr14.hg19:g.102498609C>A		0						p.A3295D	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		52	10048	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	0	1	hg19	c.9884C>A	CCDS9966.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.315928	0.97467	.	.	ENSG00000197102	ENST00000360184	T	0.80653	-1.4	5.3	5.3	0.74995	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92794	0.6251	9	.	.	.	.	19.3256	0.94261	0.0:1.0:0.0:0.0	.	3295	Q14204	DYHC1_HUMAN	D	3295	ENSP00000348965:A3295D	.	A	+	2	0	0	DYNC1H1	101568362	101568362	1.000000	0.71417	0.860000	0.33809	0.886000	0.51366	7.729000	0.84864	2.642000	0.89623	0.467000	0.42956	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	0	1		2	2	2	0		0	0	394		394	389	1	2.060000	-2.921294	1	0.170000	NM_001376	Missense_Mutation		25	24		1451	1417	0		1	0		0	0	394	0		9.999997e-01	9.227023e-01	0	1	0	252	0	25	1451
DYNC1H1	1778	broad.mit.edu	37	14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3796					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)			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						GAGGTGGAGACCGTGTCCCAG	0.577																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				166						c.(11386-11388)aCc>aAc		dynein, cytoplasmic 1, heavy chain 1							87.0	80.0	83.0					14																	102505518		2203	4300	6503	SO:0001583	missense	1778	0	0					g.chr14:102505518C>A	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.11387C>A	chr14.hg19:g.102505518C>A	ENSP00000348965:p.Thr3796Asn	0					RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.T3796N	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		60	11551	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	1	1	hg19	c.11387C>A	CCDS9966.1	1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945605	0.34377	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.97	5.08	0.68730	5.97	5.08	0.68730	.	0.173614	0.56097	D	0.000029	T	0.44008	0.1273	L	0.37507	1.11	0.58432	D	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.19590	T	0.45	.	16.7954	0.85600	0.0:0.8609:0.1391:0.0	.	3796	Q14204	DYHC1_HUMAN	N	3796	ENSP00000348965:T3796N	ENSP00000348965:T3796N	T	+	2	0	0	DYNC1H1	101575271	101575271	1.000000	0.71417	0.924000	0.36721	0.976000	0.68499	4.843000	0.62838	1.504000	0.48704	0.655000	0.94253	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_001376			72	72		378	375	1		1	1		0	0	84	0		1	1	0	18	0	399	0	72	378
DYNC1H1	1778	broad.mit.edu	37	14	102510214	102510214	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4172	AAA 6. {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)			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						CTCACCAGTCTCCCAACGAGC	0.507																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0				166						c.(12514-12516)tcT>tcC		dynein, cytoplasmic 1, heavy chain 1							84.0	81.0	82.0					14																	102510214		2203	4300	6503	SO:0001819	synonymous_variant	1778	0	0					g.chr14:102510214T>C	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.12516T>C	chr14.hg19:g.102510214T>C		0					RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.S4172S	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		70	12680	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	1	1	hg19	c.12516T>C	CCDS9966.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001376			41	41		265	262	1		1	1		0	0	74	0		1	1	0	136	0	320	0	41	265
DYNC1H1	1778	broad.mit.edu	37	14	102514985	102514985	+	Silent	SNP	C	C	T	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4451					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)			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						CTTGCGCACGCTGATCAACGA	0.602																																						ENST00000360184.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				166						c.(13351-13353)Ctg>Ttg		dynein, cytoplasmic 1, heavy chain 1							90.0	74.0	79.0					14																	102514985		2203	4300	6503	SO:0001819	synonymous_variant	1778	0	0					g.chr14:102514985C>T	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.13351C>T	chr14.hg19:g.102514985C>T		0					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.L4451L	NM_001376.4	NP_001367.2	0	1	1	1.986586	Q14204	DYHC1_HUMAN		74	13515	+			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	1	1	hg19	c.13351C>T	CCDS9966.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001376			33	33		158	157	0		1	1		0	0	37	0		1	1	0	184	0	374	0	33	158
HSP90AA1	3320	broad.mit.edu	37	14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000216281.8	-	11	2327	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T830A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	708	Required for homodimerization.				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)			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)	GCAGCACTGGTATCATCAGCA	0.413																																						ENST00000216281.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2122-2124)Acc>Gcc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Nedocromil(DB00716)|Rifabutin(DB00615)						185.0	162.0	170.0					14																	102548126		2203	4300	6503	SO:0001583	missense	3320	0	0					g.chr14:102548126T>C	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.2122A>G	chr14.hg19:g.102548126T>C	ENSP00000216281:p.Thr708Ala	0					HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T830A	p.T708A	NM_005348.3	NP_005339.3	0	1	1	1.986586	P07900	HS90A_HUMAN		11	2327	-			A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	1	1	hg19	c.2122A>G	CCDS9967.1	1	.	.	.	.	.	.	.	.	.	.	t	8.088	0.773911	0.16051	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.08896	3.04;3.04	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.837310	0.10573	U	0.658935	T	0.02012	0.0063	N	0.00560	-1.38	0.25982	N	0.982354	B;B	0.18166	0.009;0.026	B;B	0.20955	0.032;0.017	T	0.45381	-0.9265	10	0.13853	T	0.58	-10.756	1.5499	0.02572	0.1726:0.1003:0.1794:0.5477	.	830;708	P07900-2;P07900	.;HS90A_HUMAN	A	708;830	ENSP00000216281:T708A;ENSP00000335153:T830A	ENSP00000216281:T708A	T	-	1	0	0	HSP90AA1	101617879	101617879	0.708000	0.27876	0.974000	0.42286	0.969000	0.65631	0.679000	0.25291	1.739000	0.51704	0.377000	0.23210	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	1	0	1		2	2	2	0		0	0	117		117	118	1	2.060000	-20.000000	1	0.170000	NM_005348			119	115		472	465	1		1	1		0	0	117	0		1	1	0	1237	0	2154	0	119	472
HSP90AA1	3320	broad.mit.edu	37	14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000216281.8	-	8	1610	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.A591T	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	469					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)			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)	TCACCAGAGGCAGATGTGTAG	0.388																																						ENST00000216281.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				28						c.(1405-1407)Gcc>Acc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Nedocromil(DB00716)|Rifabutin(DB00615)						111.0	108.0	109.0					14																	102549964		2203	4300	6503	SO:0001583	missense	3320	0	0					g.chr14:102549964C>T	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.1405G>A	chr14.hg19:g.102549964C>T	ENSP00000216281:p.Ala469Thr	0					HSP90AA1_ENST00000334701.7_Missense_Mutation_p.A591T|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T	p.A469T	NM_005348.3	NP_005339.3	0	1	1	1.986586	P07900	HS90A_HUMAN		8	1610	-			A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	1	1	hg19	c.1405G>A	CCDS9967.1	1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511341	0.44660	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09817	2.94;2.94;2.94	4.61	4.61	0.57282	4.61	4.61	0.57282	Ribosomal protein S5 domain 2-type fold (1);	0.134283	0.49305	U	0.000156	T	0.12646	0.0307	L	0.41492	1.28	0.80722	D	1	B;P;B	0.40638	0.009;0.725;0.236	B;B;B	0.40009	0.008;0.316;0.173	T	0.05784	-1.0864	10	0.41790	T	0.15	-25.0233	17.4958	0.87717	0.0:1.0:0.0:0.0	.	290;591;469	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	469;591;290	ENSP00000216281:A469T;ENSP00000335153:A591T;ENSP00000396189:A290T	ENSP00000216281:A469T	A	-	1	0	0	HSP90AA1	101619717	101619717	1.000000	0.71417	0.886000	0.34754	0.123000	0.20343	3.722000	0.54948	2.299000	0.77371	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_005348			70	69		453	447	1		1	1		0	0	94	0		1	1	0	994	0	1957	0	70	453
ZNF839	55778	broad.mit.edu	37	14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000558850.1	+	2	438	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	30							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582																																						ENST00000558850.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(88-90)Gcc>Acc		zinc finger protein 839							39.0	45.0	43.0					14																	102792469		1944	4155	6099	SO:0001583	missense	55778	2	120868	30				g.chr14:102792469G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.88G>A	chr14.hg19:g.102792469G>A	ENSP00000453363:p.Ala30Thr	0					ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T|ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T	p.A30T	NM_001267827.1	NP_001254756.1	0	1	1	1.986586	A8K0R7	ZN839_HUMAN		2	438	+			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	1	1	hg19	c.88G>A	CCDS58336.1	1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937686	0.02340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42131	0.98;0.98	4.26	-6.21	0.02065	4.26	-6.21	0.02065	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.048;0.102;0.102	B;B;B	0.19148	0.011;0.013;0.024	T	0.20140	-1.0284	9	0.16896	T	0.51	.	3.8425	0.08920	0.5386:0.1098:0.2406:0.111	.	146;30;30	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	T	146;30	ENSP00000399863:A146T;ENSP00000262236:A30T	ENSP00000262236:A30T	A	+	1	0	0	ZNF839	101862222	101862222	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.652000	0.05366	-1.733000	0.01357	-1.060000	0.02296	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_018335			36	36		155	150	1		1	1		0	0	34	0		1	9.966029e-01	0	11	0	30	0	36	155
CINP	51550	broad.mit.edu	37	14	102822114	102822114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	99					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498																																						ENST00000216756.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(295-297)ttG>ttA		cyclin-dependent kinase 2 interacting protein							218.0	166.0	184.0					14																	102822114		2203	4300	6503	SO:0001819	synonymous_variant	51550	0	0					g.chr14:102822114C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.297G>A	chr14.hg19:g.102822114C>T		0					CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	p.L99L	NM_032630.2	NP_116019.1	0	1	1	1.986586	Q9BW66	CINP_HUMAN		3	337	-			F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	1	1	hg19	c.297G>A	CCDS9972.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.079345	1	0.170000	NM_032630			93	91		407	397	1		1	1		0	0	90	0		1	1	0	57	0	129	0	93	407
TECPR2	9895	broad.mit.edu	37	14	102900956	102900956	+	Missense_Mutation	SNP	C	C	T	rs118141823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900956C>T	ENST00000359520.7	+	9	2028	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	TECPR2_ENST00000558678.1_Missense_Mutation_p.P601L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	601					autophagy (GO:0006914)|cell death (GO:0008219)					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						GGAGATGAGCCGTGTCCTGCA	0.562													C|||	53	0.0105831	0.0015	0.0259	5008	,	,		21618	0.0		0.0268	False		,,,				2504	0.0061					ENST00000359520.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1801-1803)cCg>cTg		tectonin beta-propeller repeat containing 2		C	LEU/PRO,LEU/PRO	27,4379	33.5+/-64.1	0,27,2176	92.0	62.0	72.0		1802,1802	-0.3	0.1	14	dbSNP_132	72	197,8403	86.6+/-149.0	4,189,4107	yes	missense,missense	TECPR2	NM_001172631.1,NM_014844.3	98,98	4,216,6283	TT,TC,CC		2.2907,0.6128,1.7223	benign,benign	601/1268,601/1412	102900956	224,12782	2203	4300	6503	SO:0001583	missense	9895	2002	121364	63				g.chr14:102900956C>T	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.1802C>T	chr14.hg19:g.102900956C>T	ENSP00000352510:p.Pro601Leu	0					TECPR2_ENST00000558678.1_Missense_Mutation_p.P601L	p.P601L	NM_014844.3	NP_055659.2	0	1	1	1.986586	O15040	TCPR2_HUMAN		9	2028	+			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	1	0	hg19	c.1802C>T	CCDS32162.1	1	28	0.01282051282051282	1	0.0020325203252032522	9	0.024861878453038673	0	0.0	18	0.023746701846965697	C	12.93	2.085592	0.36758	0.006128	0.022907	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15718	2.4	5.24	-0.26	0.12967	5.24	-0.26	0.12967	.	3.162460	0.00875	N	0.002075	T	0.05823	0.0152	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.42905	T	0.14	.	1.2462	0.01973	0.332:0.298:0.2106:0.1594	.	601;601	A5PKY3;O15040	.;TCPR2_HUMAN	L	601	ENSP00000352510:P601L	ENSP00000352510:P601L	P	+	2	0	0	TECPR2	101970709	101970709	0.000000	0.05858	0.143000	0.22291	0.125000	0.20455	0.072000	0.14617	0.204000	0.20548	0.555000	0.69702	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	0	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-1.467252	0	0.170000	NM_014844			47	45		133	131	1		1	1		0	0	32	0		1	9.991464e-01	0	11	0	23	0	47	133
TECPR2	9895	broad.mit.edu	37	14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	610					autophagy (GO:0006914)|cell death (GO:0008219)					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						GGACCAAATAGCACACAGTTA	0.567																																						ENST00000359520.7	1.000000	0.290000	8.000000e-01	4.200000e-01	0.590000	0.618659	0.590000	1.000000																										0				50						c.(1828-1830)aGc>aTc		tectonin beta-propeller repeat containing 2							90.0	60.0	70.0					14																	102900983		2203	4300	6503	SO:0001583	missense	9895	0	0					g.chr14:102900983G>T	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.1829G>T	chr14.hg19:g.102900983G>T	ENSP00000352510:p.Ser610Ile	0					TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	p.S610I	NM_014844.3	NP_055659.2	0	1	1	1.986586	O15040	TCPR2_HUMAN		9	2055	+			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	1	1	hg19	c.1829G>T	CCDS32162.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.684223|1.684223	0.29872|0.29872	.|.	.|.	ENSG00000196663|ENSG00000196663	ENST00000380088|ENST00000359520	.|T	.|0.15603	.|2.41	4.59|4.59	1.58|1.58	0.23477|0.23477	4.59|4.59	1.58|1.58	0.23477|0.23477	.|.	.|1.679610	.|0.02402	.|N	.|0.080727	.|T	.|0.11324	.|0.0276	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.23726	.|-1.0180	.|9	.|.	.|.	.|.	.|.	3.6399|3.6399	0.08163|0.08163	0.0829:0.1333:0.3749:0.4089|0.0829:0.1333:0.3749:0.4089	.|.	.|610;610	.|A5PKY3;O15040	.|.;TCPR2_HUMAN	.|I	-1|610	.|ENSP00000352510:S610I	.|.	.|S	+|+	.|2	.|0	.|0	TECPR2|TECPR2	101970736|101970736	101970736|101970736	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.341000|0.341000	0.28922|0.28922	-0.853000|-0.853000	0.04303|0.04303	0.140000|0.140000	0.18849|0.18849	0.555000|0.555000	0.69702|0.69702	.|AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-12.166180	1	0.170000	NM_014844			9	9		172	167	0		1	0		0	0	40	0		9.938347e-01	5.830696e-01	0	0	0	37	0	9	172
TECPR2	9895	broad.mit.edu	37	14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	665					autophagy (GO:0006914)|cell death (GO:0008219)					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						ACAGTGGCTGCCTGGGACCAG	0.597																																						ENST00000359520.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999564	0.990000	1.000000																										0				50						c.(1993-1995)Cct>Tct		tectonin beta-propeller repeat containing 2							26.0	27.0	26.0					14																	102901147		2202	4300	6502	SO:0001583	missense	9895	0	0					g.chr14:102901147C>T	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.1993C>T	chr14.hg19:g.102901147C>T	ENSP00000352510:p.Pro665Ser	0					TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	p.P665S	NM_014844.3	NP_055659.2	0	1	1	1.986586	O15040	TCPR2_HUMAN		9	2219	+			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	1	1	hg19	c.1993C>T	CCDS32162.1	1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393809	0.42410	.	.	ENSG00000196663	ENST00000359520	T	0.13778	2.56	5.46	4.52	0.55395	5.46	4.52	0.55395	.	0.643972	0.12979	N	0.423492	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	P;P	0.36048	0.534;0.534	B;B	0.34138	0.176;0.176	T	0.17379	-1.0371	9	.	.	.	.	10.1963	0.43056	0.1591:0.7047:0.1362:0.0	.	665;665	A5PKY3;O15040	.;TCPR2_HUMAN	S	665	ENSP00000352510:P665S	.	P	+	1	0	0	TECPR2	101970900	101970900	0.000000	0.05858	0.010000	0.14722	0.110000	0.19582	0.082000	0.14847	2.576000	0.86940	0.555000	0.69702	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-2.141661	0	0.170000	NM_014844			28	28		174	167	1		1	1		0	0	36	0		1	9.824951e-01	0	10	0	33	0	28	174
ANKRD9	122416	broad.mit.edu	37	14	102974022	102974022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102974022C>T	ENST00000286918.4	-	4	801	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	ANKRD9_ENST00000559651.1_Missense_Mutation_p.A69T|ANKRD9_ENST00000560748.1_Missense_Mutation_p.A69T	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	69										pancreas(1)|skin(1)	2						GGCGAGTAGGCGGCGGCGCGC	0.716																																						ENST00000286918.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				2						c.(205-207)Gcc>Acc		ankyrin repeat domain 9							6.0	7.0	7.0					14																	102974022		1928	3806	5734	SO:0001583	missense	122416	0	0					g.chr14:102974022C>T	BC015422	CCDS9973.1	14q32.33	2013-01-11				ENSG00000156381		"""Ankyrin repeat domain containing"""	20096	protein-coding gene	gene with protein product							Standard	NM_152326		Approved		uc001ylz.1	Q96BM1		ENST00000286918.4:c.205G>A	chr14.hg19:g.102974022C>T	ENSP00000286918:p.Ala69Thr	0					ANKRD9_ENST00000559651.1_Missense_Mutation_p.A69T|ANKRD9_ENST00000560748.1_Missense_Mutation_p.A69T	p.A69T	NM_152326.2	NP_689539.1	0	1	1	1.986586	Q96BM1	ANKR9_HUMAN		4	801	-			A8K753	Missense_Mutation	SNP	ENST00000286918.4	1	0	hg19	c.205G>A	CCDS9973.1	1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868827	0.17322	.	.	ENSG00000156381	ENST00000286918	D	0.87029	-2.2	3.7	1.26	0.21427	3.7	1.26	0.21427	.	0.358652	0.28016	U	0.016922	T	0.57562	0.2062	N	0.02539	-0.55	0.29704	N	0.839951	B	0.12630	0.006	B	0.09377	0.004	T	0.52961	-0.8505	10	0.02654	T	1	-18.6369	0.8062	0.01084	0.1896:0.359:0.1902:0.2612	.	69	Q96BM1	ANKR9_HUMAN	T	69	ENSP00000286918:A69T	ENSP00000286918:A69T	A	-	1	0	0	ANKRD9	102043775	102043775	0.880000	0.30214	0.993000	0.49108	0.836000	0.47400	0.460000	0.21924	0.532000	0.28657	0.478000	0.44815	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ANKRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415057.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-20.000000	1	0.170000				16	15		53	52	0		1	1		0	0	11	0		9.999608e-01	5.943876e-01	0	6	0	2	0	16	53
RCOR1	23186	broad.mit.edu	37	14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000570597.1	+	6	699	c.699G>A	c.(697-699)tgG>tgA	p.W233*	RCOR1_ENST00000262241.6_Nonsense_Mutation_p.W236*			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	233	Interaction with HDAC1.|SANT 1. {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)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383																																						ENST00000570597.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(697-699)tgG>tgA		REST corepressor 1							153.0	172.0	166.0					14																	103174849		2203	4300	6503	SO:0001587	stop_gained	23186	0	0					g.chr14:103174849G>A	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.699G>A	chr14.hg19:g.103174849G>A	ENSP00000459789:p.Trp233*	0					RCOR1_ENST00000262241.6_Nonsense_Mutation_p.W236*	p.W233*			0	1	1	1.986586	Q9UKL0	RCOR1_HUMAN		6	699	+			Q15044|Q6P2I9|Q86VG5	Nonsense_Mutation	SNP	ENST00000570597.1	0	1	hg19	c.699G>A		1	.	.	.	.	.	.	.	.	.	.	G	39	7.449281	0.98292	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9651	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000262241:W233X	W	+	3	0	0	RCOR1	102244602	102244602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.778000	0.95560	0.655000	0.94253	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	265		265	263	1	2.060000	-20.000000	1	0.170000	NM_015156			250	244		1147	1104	1		1	1		0	0	265	0		1	9.998958e-01	0	2	0	59	0	250	1147
CDC42BPB	9578	broad.mit.edu	37	14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											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)		TGGAGGCTGGCGAGCCAGGTT	0.662																																						ENST00000361246.2	0.520000	0.220000	4.400000e-01	2.800000e-01	0.350000	0.370265	0.350000	0.350000																										0				49						c.(4885-4887)cGc>cAc		CDC42 binding protein kinase beta (DMPK-like)							60.0	70.0	67.0					14																	103404690		2203	4300	6503	SO:0001583	missense	9578	4	121346	36				g.chr14:103404690C>T	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.4886G>A	chr14.hg19:g.103404690C>T	ENSP00000355237:p.Arg1629His	0					RP11-365N19.2_ENST00000560931.1_RNA	p.R1629H	NM_006035.3	NP_006026.3	0	1	1	1.986586				35	5174	-		Melanoma(154;0.155)		Missense_Mutation	SNP	ENST00000361246.2	1	1	hg19	c.4886G>A	CCDS9978.1	0	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225273	0.39300	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.195819	0.45361	D	0.000368	T	0.65471	0.2694	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.48270	0.572	T	0.65129	-0.6243	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	1629	Q9Y5S2	MRCKB_HUMAN	H	1629	ENSP00000355237:R1629H	ENSP00000355237:R1629H	R	-	2	0	0	CDC42BPB	102474443	102474443	1.000000	0.71417	0.970000	0.41538	0.148000	0.21650	6.221000	0.72243	2.251000	0.74343	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	0	0	0		2	2	2	0		0	0	101		101	100	1	2.060000	-2.482020	0	0.170000	NM_006035			21	18		668	654	0		1	1		0	0	101	0		9.999968e-01	9.999654e-01	0	35	0	493	0	21	668
CDC42BPB	9578	broad.mit.edu	37	14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											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)		ATACCTTTCCGTTGTGAATGT	0.453																																						ENST00000361246.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				49						c.(1213-1215)aCg>aTg		CDC42 binding protein kinase beta (DMPK-like)							113.0	98.0	103.0					14																	103444469		2203	4300	6503	SO:0001583	missense	9578	0	0					g.chr14:103444469G>A	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.1214C>T	chr14.hg19:g.103444469G>A	ENSP00000355237:p.Thr405Met	0						p.T405M	NM_006035.3	NP_006026.3	0	1	1	1.986586				9	1502	-		Melanoma(154;0.155)		Missense_Mutation	SNP	ENST00000361246.2	1	1	hg19	c.1214C>T	CCDS9978.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069583	0.76301	.	.	ENSG00000198752	ENST00000361246	T	0.64260	-0.09	5.3	5.3	0.74995	5.3	5.3	0.74995	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	D	0.64776	0.929	T	0.75309	-0.3363	10	0.54805	T	0.06	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	405	Q9Y5S2	MRCKB_HUMAN	M	405	ENSP00000355237:T405M	ENSP00000355237:T405M	T	-	2	0	0	CDC42BPB	102514222	102514222	1.000000	0.71417	0.789000	0.31954	0.639000	0.38242	5.293000	0.65680	2.481000	0.83766	0.655000	0.94253	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_006035			43	43		218	211	1		1	1		0	0	63	0		1	1	0	76	0	192	0	43	218
TNFAIP2	7127	broad.mit.edu	37	14	103597432	103597432	+	Silent	SNP	C	C	T	rs374639192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000451723.2_Silent_p.L84L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	415					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557																																						ENST00000560869.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1243-1245)Ctg>Ttg		tumor necrosis factor, alpha-induced protein 2							105.0	92.0	96.0					14																	103597432		2203	4300	6503	SO:0001819	synonymous_variant	7127	0	0					g.chr14:103597432C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1243C>T	chr14.hg19:g.103597432C>T		0					TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000451723.2_Silent_p.L84L	p.L415L			0	1	1	1.986586	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)	7	1882	+		Melanoma(154;0.155)	Q86VI0	Silent	SNP	ENST00000560869.1	1	1	hg19	c.1243C>T	CCDS9979.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	1	0	1		2	2	2	0		0	0	83		83	80	1	2.060000	-20.000000	1	0.170000	NM_006291			86	84		397	389	1		1	1		0	0	83	0		1	1	0	106	0	209	0	86	397
EIF5	1983	broad.mit.edu	37	14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	302	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393																																						ENST00000216554.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(904-906)Cga>Tga		eukaryotic translation initiation factor 5							63.0	68.0	67.0					14																	103805668		2203	4300	6503	SO:0001587	stop_gained	1983	0	0					g.chr14:103805668C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.904C>T	chr14.hg19:g.103805668C>T	ENSP00000216554:p.Arg302*	0					EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*	p.R302*	NM_001969.4	NP_001960.2	0	1	1	1.986586	P55010	IF5_HUMAN	Epithelial(46;0.182)	9	1580	+		Melanoma(154;0.155)	Q53XB3|Q9H5N2|Q9UG48	Nonsense_Mutation	SNP	ENST00000216554.3	0	1	hg19	c.904C>T	CCDS9980.1	1	.	.	.	.	.	.	.	.	.	.	.	42	9.308945	0.99132	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.39	2.36	0.29203	5.39	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4976	13.3204	0.60430	0.3965:0.6035:0.0:0.0	.	.	.	.	X	302	.	ENSP00000216554:R302X	R	+	1	2	2	EIF5	102875421	102875421	0.999000	0.42202	0.856000	0.33681	0.561000	0.35649	1.540000	0.36115	0.160000	0.19432	0.460000	0.39030	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.319797	1	0.170000	NM_001969			60	60		353	345	1		1	1		0	0	94	0		1	1	0	4	0	453	0	60	353
MARK3	4140	broad.mit.edu	37	14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	609						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			AGTAAATTAACTTCAAAACTC	0.463																																						ENST00000429436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1825-1827)aCt>aAt		MAP/microtubule affinity-regulating kinase 3							51.0	48.0	49.0					14																	103958353		1893	4110	6003	SO:0001583	missense	4140	0	0					g.chr14:103958353C>A	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.1826C>A	chr14.hg19:g.103958353C>A	ENSP00000411397:p.Thr609Asn	0					MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N	p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	0	1	1	1.986586	P27448	MARK3_HUMAN	Epithelial(46;0.241)	15	2336	+		Melanoma(154;0.155)	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	1	1	hg19	c.1826C>A	CCDS45165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849609|4.849609	0.91277|0.91277	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.95;0.42;0.95;0.95;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.042880	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;P;B;B;B;D;P;B	.|0.71674	.|0.961;0.63;0.105;0.015;0.273;0.998;0.861;0.039	.|P;B;B;B;B;D;P;B	.|0.78314	.|0.838;0.41;0.099;0.132;0.23;0.991;0.591;0.099	T|T	0.77638|0.77638	-0.2513|-0.2513	5|10	.|0.54805	.|T	.|0.06	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;196;632;593;609;530;609;609	.|P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;MARK3_HUMAN;.;.;.	I|N	361|632;310;530;632;609;609;593;609;196	.|ENSP00000335347:T632N;ENSP00000402104:T530N;ENSP00000408092:T632N;ENSP00000411397:T609N;ENSP00000303698:T609N;ENSP00000216288:T593N;ENSP00000450772:T609N;ENSP00000451623:T196N	.|ENSP00000216288:T609N	L|T	+|+	1|2	0|0	0|0	MARK3|MARK3	103028106|103028106	103028106|103028106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.485000|7.485000	0.81204|0.81204	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_001128918			49	48		201	195	1		1	1		0	0	48	0		1	1	0	74	0	183	0	49	201
MARK3	4140	broad.mit.edu	37	14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	685						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			GTGTTGGACGCCAATAACTGC	0.552																																						ENST00000429436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2053-2055)gCc>gTc		MAP/microtubule affinity-regulating kinase 3							71.0	73.0	72.0					14																	103969356		2062	4221	6283	SO:0001583	missense	4140	0	0					g.chr14:103969356C>T	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.2054C>T	chr14.hg19:g.103969356C>T	ENSP00000411397:p.Ala685Val	0					MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V	p.A685V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	0	1	1	1.986586	P27448	MARK3_HUMAN	Epithelial(46;0.241)	18	2564	+		Melanoma(154;0.155)	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	1	1	hg19	c.2054C>T	CCDS45165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994032|4.994032	0.93167|0.93167	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81983|0.81983	0.4938|0.4938	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;D;B;B|.	0.63046|.	0.943;0.347;0.272;0.338;0.434;0.062;0.992;0.149;0.272|.	P;B;B;B;B;B;P;B;B|.	0.58721|.	0.844;0.075;0.209;0.03;0.249;0.178;0.778;0.139;0.209|.	T|T	0.79955|0.79955	-0.1585|-0.1585	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692;263;684;394;645;685;591;676;661|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	708;377;591;684;685;661;645;676;263|437	ENSP00000335347:A708V;ENSP00000402104:A591V;ENSP00000408092:A684V;ENSP00000411397:A685V;ENSP00000303698:A661V;ENSP00000216288:A645V;ENSP00000450772:A676V;ENSP00000451623:A263V|.	ENSP00000216288:A676V|.	A|P	+|+	2|1	0|0	0|0	MARK3|MARK3	103039109|103039109	103039109|103039109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	5.875000|5.875000	0.69660|0.69660	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_001128918			55	55		233	231	1		1	1		0	0	53	0		1	1	0	95	0	200	0	55	233
MARK3	4140	broad.mit.edu	37	14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	715	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			AGTGGGAAATGGAAGTGTGCA	0.527																																						ENST00000429436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2143-2145)atG>atT		MAP/microtubule affinity-regulating kinase 3							64.0	66.0	65.0					14																	103969447		2034	4215	6249	SO:0001583	missense	4140	0	0					g.chr14:103969447G>T	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.2145G>T	chr14.hg19:g.103969447G>T	ENSP00000411397:p.Met715Ile	0					MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I	p.M715I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	0	1	1	1.986586	P27448	MARK3_HUMAN	Epithelial(46;0.241)	18	2655	+		Melanoma(154;0.155)	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	1	1	hg19	c.2145G>T	CCDS45165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.697104|2.697104	0.48202|0.48202	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.105274|.	0.85682|.	D|.	0.000000|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;D;B;P;B;B;P;B;B|.	0.56746|.	0.168;0.977;0.168;0.932;0.162;0.035;0.454;0.264;0.289|.	B;D;B;D;B;B;B;B;B|.	0.63488|.	0.192;0.912;0.101;0.915;0.075;0.134;0.266;0.175;0.192|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.22706|.	T|.	0.39|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	722;293;714;424;675;715;621;706;691|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	738;407;621;714;715;691;675;706;293|467	ENSP00000335347:M738I;ENSP00000402104:M621I;ENSP00000408092:M714I;ENSP00000411397:M715I;ENSP00000303698:M691I;ENSP00000216288:M675I;ENSP00000450772:M706I;ENSP00000451623:M293I|.	ENSP00000216288:M706I|.	M|W	+|+	3|2	0|0	0|0	MARK3|MARK3	103039200|103039200	103039200|103039200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	9.807000|9.807000	0.99171|0.99171	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATG|TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-3.514295	1	0.170000	NM_001128918			69	69		271	264	1		1	1		0	0	77	0		1	1	0	86	0	148	0	69	271
CKB	1152	broad.mit.edu	37	14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				3						c.(37-39)cGc>cAc		creatine kinase, brain	Creatine(DB00148)						59.0	53.0	55.0					14																	103988793		2202	4300	6502	SO:0001583	missense	1152	0	0					g.chr14:103988793C>T		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.38G>A	chr14.hg19:g.103988793C>T	ENSP00000299198:p.Arg13His	0					RP11-600F24.7_ENST00000568177.1_RNA	p.R13H	NM_001823.4	NP_001814.2	0	1	1	1.986586	P12277	KCRB_HUMAN	Epithelial(46;0.14)	2	395	-		Melanoma(154;0.155)	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	1	1	hg19	c.38G>A	CCDS9981.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524213	0.44866	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.63580	-0.05;-0.05	4.17	3.28	0.37604	4.17	3.28	0.37604	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.50820	0.1638	L	0.50333	1.59	0.32913	D	0.514826	B	0.02656	0.0	B	0.01281	0.0	T	0.57579	-0.7787	10	0.72032	D	0.01	0.7127	5.0339	0.14424	0.0:0.6137:0.0:0.3863	.	13	P12277	KCRB_HUMAN	H	13	ENSP00000299198:R13H;ENSP00000451904:R13H	ENSP00000299198:R13H	R	-	2	0	0	CKB	103058546	103058546	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.145000	0.42207	1.001000	0.39076	0.297000	0.19635	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				33	31		134	132	0		1	1		0	0	32	0		1	9.433124e-01	0	4	0	18	0	33	134
TRMT61A	115708	broad.mit.edu	37	14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	83						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642																																						ENST00000389749.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(247-249)cGc>cAc		tRNA methyltransferase 61 homolog A (S. cerevisiae)							82.0	91.0	88.0					14																	103996563		2185	4284	6469	SO:0001583	missense	115708	0	0					g.chr14:103996563G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.248G>A	chr14.hg19:g.103996563G>A	ENSP00000374399:p.Arg83His	0					RP11-600F24.7_ENST00000568177.1_RNA	p.R83H	NM_152307.2	NP_689520.2	0	1	1	1.986586	Q96FX7	TRM61_HUMAN		2	355	+			A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	1	1	hg19	c.248G>A	CCDS41994.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.406675	0.96051	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.61742	0.08	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87926	0.2707	10	0.52906	T	0.07	-11.4544	16.8232	0.85924	0.0:0.0:1.0:0.0	.	83	Q96FX7	TRM61_HUMAN	H	83	ENSP00000374399:R83H	ENSP00000299201:R83H	R	+	2	0	0	TRMT61A	103066316	103066316	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.448000	0.97600	2.186000	0.69663	0.462000	0.41574	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	1	0	1		19	2	2	0		0	1	145		145	140	1	2.060000	-3.153878	1	0.170000	NM_152307			139	138		667	649	1		1	1		0	0	145	0		1	9.999956e-01	0	29	0	55	0	139	667
BAG5	9529	broad.mit.edu	37	14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	344	BAG 4. {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)			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)			TCAATATATGTGATCAGAGTT	0.478																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1030-1032)Aca>Gca		BCL2-associated athanogene 5							90.0	96.0	94.0					14																	104026472		2203	4300	6503	SO:0001583	missense	9529	0	0					g.chr14:104026472T>C	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.1030A>G	chr14.hg19:g.104026472T>C	ENSP00000391713:p.Thr344Ala	0					APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	p.T344A	NM_004873.3	NP_004864.1	0	1	1	1.986586	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)	2	1276	-		Melanoma(154;0.155)	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	1	1	hg19	c.1030A>G	CCDS9982.1	1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865222	0.51482	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87491	-2.26;-2.26;-2.26	5.76	5.76	0.90799	5.76	5.76	0.90799	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91468	0.5194	10	0.87932	D	0	-26.7047	16.0833	0.81020	0.0:0.0:0.0:1.0	.	344;385	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	A	344;344;385	ENSP00000299204:T344A;ENSP00000391713:T344A;ENSP00000338814:T385A	ENSP00000299204:T344A	T	-	1	0	0	BAG5	103096225	103096225	1.000000	0.71417	0.708000	0.30435	0.026000	0.11368	7.210000	0.77924	2.202000	0.70862	0.533000	0.62120	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000				135	133		488	483	1		1	1		0	0	122	0		1	1	0	29	0	70	0	135	488
KLC1	3831	broad.mit.edu	37	14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000348520.6	+	12	1773	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCTGCAGAAACGTTAGAAGAA	0.418																																						ENST00000348520.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									KLC1/ALK(2)	0				12						c.(1453-1455)aCg>aTg		kinesin light chain 1							147.0	141.0	143.0					14																	104143826		2203	4300	6503	SO:0001583	missense	3831	1	121412	30				g.chr14:104143826C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1454C>T	chr14.hg19:g.104143826C>T	ENSP00000341154:p.Thr485Met	0					KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M	p.T485M	NM_182923.3	NP_891553.2	0	1	1	1.986586	Q07866	KLC1_HUMAN		12	1773	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	1	1	hg19	c.1454C>T	CCDS41996.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694657|4.694657	0.88830|0.88830	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.|T;D;T;T;T;T;T;T;T;D;T;T;D;T	.|0.85258	.|-1.37;-1.85;-1.36;-1.36;-1.36;-1.37;-1.37;-1.36;-1.37;-1.96;-1.37;-1.36;-1.95;-0.62	5.52|5.52	5.52|5.52	0.82312|0.82312	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.090866	.|0.85682	.|D	.|0.000000	D|D	0.92580|0.92580	0.7643|0.7643	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;1.0;0.997	D|D	0.91455|0.91455	0.5184|0.5184	5|10	.|0.42905	.|T	.|0.14	-10.5759|-10.5759	19.7987|19.7987	0.96497|0.96497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|485;485;657;485;483	.|F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.|.;.;.;KLC1_HUMAN;.	C|M	65;61;59|485;485;485;485;485;485;485;485;485;485;485;485;485;483;657	.|ENSP00000341154:T485M;ENSP00000369377:T485M;ENSP00000374394:T485M;ENSP00000450617:T485M;ENSP00000452487:T485M;ENSP00000334618:T485M;ENSP00000452481:T485M;ENSP00000334523:T485M;ENSP00000246489:T485M;ENSP00000450648:T485M;ENSP00000451242:T485M;ENSP00000414982:T485M;ENSP00000412693:T483M;ENSP00000439065:T657M	.|ENSP00000246489:T485M	R|T	+|+	1|2	0|0	0|0	KLC1|KLC1;RP11-73M18.2	103213579|103213579	103213579|103213579	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.816000|0.816000	0.46133|0.46133	7.776000|7.776000	0.85560|0.85560	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_005552			81	78		411	403	1		1	1		0	0	95	0		1	1	0	123	0	403	0	81	411
PPP1R13B	23368	broad.mit.edu	37	14	104206599	104206599	+	Silent	SNP	G	G	A	rs149001440	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104206599G>A	ENST00000202556.9	-	12	2436	c.2154C>T	c.(2152-2154)ggC>ggT	p.G718G	PPP1R13B_ENST00000423488.2_Silent_p.G137G|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	718	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)				TGTTGGGCCCGCCGGGGCCCT	0.667													G|||	46	0.0091853	0.0333	0.0029	5008	,	,		13584	0.0		0.0	False		,,,				2504	0.0					ENST00000202556.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2152-2154)ggC>ggT		protein phosphatase 1, regulatory subunit 13B		G		117,3739		1,115,1812	40.0	48.0	45.0		2154	-7.4	0.1	14	dbSNP_134	45	2,8218		0,2,4108	no	coding-synonymous	PPP1R13B	NM_015316.2		1,117,5920	AA,AG,GG		0.0243,3.0342,0.9854		718/1091	104206599	119,11957	1928	4110	6038	SO:0001819	synonymous_variant	23368	353	120846	57				g.chr14:104206599G>A	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.2154C>T	chr14.hg19:g.104206599G>A		0					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.G137G	p.G718G	NM_015316.2	NP_056131.2	0	1	1	1.986586	Q96KQ4	ASPP1_HUMAN		12	2436	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	1	0	hg19	c.2154C>T	CCDS41997.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	0	0	1		25	3	2	1		1	1	78		78	75	1	2.060000	-2.626670	1	0.170000	NM_015316			121	117		514	502	1		1	1		1	0	78	0		1	9.407687e-01	0	3	0	27	0	121	514
TDRD9	122402	broad.mit.edu	37	14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	638					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)			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)				TTTTTGCAATGCCTTTCCGGC	0.328																																						ENST00000409874.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999192	0.990000	1.000000																										0				33						c.(1912-1914)atG>atA		tudor domain containing 9							58.0	59.0	58.0					14																	104473017		2203	4299	6502	SO:0001583	missense	122402	0	0					g.chr14:104473017G>A	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.1914G>A	chr14.hg19:g.104473017G>A	ENSP00000387303:p.Met638Ile	0					TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	p.M638I	NM_153046.2	NP_694591.2	0	1	1	1.986586	Q8NDG6	TDRD9_HUMAN		17	1962	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	0	1	hg19	c.1914G>A	CCDS9987.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699403|1.699403	0.30142|0.30142	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.02446	.|4.29;4.29	5.48|5.48	4.59|4.59	0.56863|0.56863	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Helicase-associated domain (2);	.|0.184337	.|0.47093	.|N	.|0.000243	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.14661|0.14661	0.345|0.345	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B	.|0.23058	.|0.079;0.002	.|B;B	.|0.20577	.|0.021;0.03	T|T	0.56798|0.56798	-0.7919|-0.7919	5|10	.|0.34782	.|T	.|0.22	.|.	7.8697|7.8697	0.29558|0.29558	0.1432:0.0:0.7243:0.1325|0.1432:0.0:0.7243:0.1325	.|.	.|638;638	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	T|I	365|638	.|ENSP00000387303:M638I;ENSP00000343545:M638I	.|ENSP00000343545:M638I	A|M	+|+	1|3	0|0	0|0	TDRD9|TDRD9	103542770|103542770	103542770|103542770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.605000|2.605000	0.46283|0.46283	1.310000|1.310000	0.45006|0.45006	0.563000|0.563000	0.77884|0.77884	GCC|ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_153046			23	23		140	138	1		1	0		0	0	19	0		9.999996e-01	2.190581e-02	0	0	0	2	0	23	140
KIF26A	26153	broad.mit.edu	37	14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A	rs200636236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000423312.2	+	8	1606	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	KIF26A_ENST00000315264.7_Missense_Mutation_p.E397K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	536	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721																																						ENST00000423312.2	1.000000	0.920000	1	9.900000e-01	0.990000	0.995486	0.990000	1.000000																										0				21						c.(1606-1608)Gag>Aag		kinesin family member 26A		G	LYS/GLU	1,4051		0,1,2025	12.0	18.0	16.0		1606	3.3	0.9	14		16	1,8273		0,1,4136	yes	missense	KIF26A	NM_015656.1	56	0,2,6161	AA,AG,GG		0.0121,0.0247,0.0162	possibly-damaging	536/1883	104639499	2,12324	2026	4137	6163	SO:0001583	missense	26153	13	119868	36				g.chr14:104639499G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1606G>A	chr14.hg19:g.104639499G>A	ENSP00000388241:p.Glu536Lys	0					KIF26A_ENST00000315264.7_Missense_Mutation_p.E397K	p.E536K	NM_015656.1	NP_056471.1	0	1	1	1.986586	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	8	1606	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	0	1	hg19	c.1606G>A	CCDS45171.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442707	0.83993	2.47E-4	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.43294	0.95;0.95	5.18	3.31	0.37934	5.18	3.31	0.37934	Kinesin, motor domain (4);	.	.	.	.	T	0.31544	0.0800	N	0.20845	0.615	0.49582	D	0.999808	D	0.57571	0.98	P	0.47044	0.535	T	0.02639	-1.1130	9	0.39692	T	0.17	.	9.8426	0.41008	0.0733:0.0:0.7873:0.1395	.	536	Q9ULI4	KI26A_HUMAN	K	536;397	ENSP00000388241:E536K;ENSP00000325452:E397K	ENSP00000325452:E397K	E	+	1	0	0	KIF26A	103709252	103709252	1.000000	0.71417	0.884000	0.34674	0.801000	0.45260	9.524000	0.98036	0.536000	0.28733	0.462000	0.41574	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000				16	16		104	102	1		1			0	0	22	0		9.999479e-01	0	0	0	0	0	0	16	104
KIF26A	26153	broad.mit.edu	37	14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000423312.2	+	12	3676	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A1087T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1226					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697																																						ENST00000423312.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(3676-3678)Gct>Act		kinesin family member 26A							20.0	25.0	23.0					14																	104642801		2020	4160	6180	SO:0001583	missense	26153	0	0					g.chr14:104642801G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3676G>A	chr14.hg19:g.104642801G>A	ENSP00000388241:p.Ala1226Thr	0					KIF26A_ENST00000315264.7_Missense_Mutation_p.A1087T	p.A1226T	NM_015656.1	NP_056471.1	0	1	1	1.986586	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	12	3676	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	1	1	hg19	c.3676G>A	CCDS45171.1	1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204088	0.01581	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77877	-1.13;-1.12	3.23	-6.45	0.01914	3.23	-6.45	0.01914	.	.	.	.	.	T	0.59032	0.2164	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.21014	T	0.42	.	4.4235	0.11492	0.2471:0.1681:0.5003:0.0846	.	1226	Q9ULI4	KI26A_HUMAN	T	1226;1087	ENSP00000388241:A1226T;ENSP00000325452:A1087T	ENSP00000325452:A1087T	A	+	1	0	0	KIF26A	103712554	103712554	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.406000	0.21032	-2.983000	0.00282	-1.021000	0.02439	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000				43	42		168	163	1		1	0		0	0	44	0		1	4.343820e-02	0	0	0	2	0	43	168
TMEM179	388021	broad.mit.edu	37	14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000556573.1	-	2	560	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000341595.3_Missense_Mutation_p.A107T			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	107						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632																																						ENST00000556573.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999861	0.990000	1.000000																										0				4						c.(319-321)Gcc>Acc		transmembrane protein 179							66.0	45.0	53.0					14																	105063451		2199	4296	6495	SO:0001583	missense	388021	1	120722	24				g.chr14:105063451C>T	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.319G>A	chr14.hg19:g.105063451C>T	ENSP00000450958:p.Ala107Thr	0					TMEM179_ENST00000341595.3_Missense_Mutation_p.A107T	p.A107T			0	1	1	1.986586	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	2	560	-				Missense_Mutation	SNP	ENST00000556573.1	1	1	hg19	c.319G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326812	0.41197	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.17054	2.3;2.3;2.3	3.45	2.46	0.29980	3.45	2.46	0.29980	.	0.444482	0.23160	N	0.051254	T	0.15825	0.0381	L	0.52126	1.63	0.42111	D	0.991384	P	0.52170	0.951	B	0.40134	0.32	T	0.13361	-1.0512	10	0.51188	T	0.08	.	12.3378	0.55077	0.1687:0.8313:0.0:0.0	.	107	Q6ZVK1-2	.	T	107	ENSP00000397763:A107T;ENSP00000450958:A107T;ENSP00000340477:A107T	ENSP00000340477:A107T	A	-	1	0	0	RP11-614O9.3;TMEM179	104134496	104134496	0.996000	0.38824	0.841000	0.33234	0.539000	0.34962	3.407000	0.52644	1.640000	0.50565	0.442000	0.29010	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_207379			13	13		34	33	1		1			0	0	15	0		9.997495e-01	0	0	0	0	0	0	13	34
INF2	64423	broad.mit.edu	37	14	105174179	105174179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174179C>T	ENST00000392634.4	+	8	1687	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	INF2_ENST00000330634.7_Silent_p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	525					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCCCTGCACCTGCAGCCCCC	0.716																																						ENST00000392634.4	1.000000	0.480000	1	6.900000e-01	0.950000	0.877427	0.950000	1.000000																										0				8						c.(1573-1575)acC>acT		inverted formin, FH2 and WH2 domain containing							13.0	15.0	14.0					14																	105174179		1920	4080	6000	SO:0001819	synonymous_variant	64423	0	0					g.chr14:105174179C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1575C>T	chr14.hg19:g.105174179C>T		0					INF2_ENST00000330634.7_Silent_p.T525T	p.T525T	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	8	1687	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	0	1	hg19	c.1575C>T	CCDS9989.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	0	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-18.251150	1	0.170000	NM_022489			9	8		102	101	0		1	1		0	0	15	0		9.943981e-01	9.680384e-01	0	10	0	61	0	9	102
INF2	64423	broad.mit.edu	37	14	105174224	105174224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	ENST00000392634.4	+	8	1732	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_ENST00000330634.7_Silent_p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	540					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCGTGGCCCAGGTGGACC	0.667																																						ENST00000392634.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				8						c.(1618-1620)gcC>gcT		inverted formin, FH2 and WH2 domain containing							28.0	31.0	30.0					14																	105174224		2079	4194	6273	SO:0001819	synonymous_variant	64423	0	0					g.chr14:105174224C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1620C>T	chr14.hg19:g.105174224C>T		0					INF2_ENST00000330634.7_Silent_p.A540A	p.A540A	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	8	1732	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	0	1	hg19	c.1620C>T	CCDS9989.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	0	0	0		2	2	2	0		0	0	46		46	39	1	2.060000	-20.000000	1	0.170000	NM_022489			36	28		173	152	0		1	1		0	0	46	0		1	9.999998e-01	0	46	0	75	0	36	173
INF2	64423	broad.mit.edu	37	14	105177986	105177986	+	Silent	SNP	C	C	T	rs543495305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	813	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15515	0.0		0.0	False		,,,				2504	0.0					ENST00000392634.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999842	0.990000	1.000000																										0				8						c.(2437-2439)ccC>ccT		inverted formin, FH2 and WH2 domain containing							53.0	69.0	64.0					14																	105177986		2051	4192	6243	SO:0001819	synonymous_variant	64423	2	120760	33				g.chr14:105177986C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2439C>T	chr14.hg19:g.105177986C>T		0					INF2_ENST00000330634.7_Silent_p.P813P	p.P813P	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	16	2551	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	1	1	hg19	c.2439C>T	CCDS9989.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-2.973015	1	0.170000	NM_022489			32	32		193	190	1		1	1		0	0	34	0		1	1	0	88	0	196	0	32	193
INF2	64423	broad.mit.edu	37	14	105179212	105179212	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	886	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652																																						ENST00000392634.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				8						c.(2656-2658)atC>atT		inverted formin, FH2 and WH2 domain containing							35.0	39.0	38.0					14																	105179212		2075	4210	6285	SO:0001819	synonymous_variant	64423	0	0					g.chr14:105179212C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2658C>T	chr14.hg19:g.105179212C>T		0					INF2_ENST00000330634.7_Silent_p.I886I	p.I886I	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	18	2770	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	1	1	hg19	c.2658C>T	CCDS9989.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-18.826490	1	0.170000	NM_022489			36	36		199	198	1		1	1		0	0	35	0		1	1	0	126	0	231	0	36	199
INF2	64423	broad.mit.edu	37	14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1004					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652																																						ENST00000392634.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				8						c.(3010-3012)tCc>tTc		inverted formin, FH2 and WH2 domain containing							45.0	63.0	57.0					14																	105179914		2038	4191	6229	SO:0001583	missense	64423	0	0					g.chr14:105179914C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3011C>T	chr14.hg19:g.105179914C>T	ENSP00000376410:p.Ser1004Phe	0					INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	p.S1004F	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	20	3123	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	1	1	hg19	c.3011C>T	CCDS9989.2	1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823223	0.32237	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.41;-1.41	4.04	2.16	0.27623	4.04	2.16	0.27623	.	7.488640	0.01565	U	0.020283	T	0.66056	0.2751	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43094	0.799;0.697	B;B	0.31946	0.138;0.094	T	0.60016	-0.7345	10	0.49607	T	0.09	.	6.2899	0.21054	0.0:0.6793:0.1498:0.1709	.	1004;1004	Q27J81-2;Q27J81	.;INF2_HUMAN	F	1004	ENSP00000376406:S1004F;ENSP00000376410:S1004F	ENSP00000252527:S472F	S	+	2	0	0	INF2	104250959	104250959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.929000	0.28844	0.269000	0.21961	-0.379000	0.06801	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_022489			25	25		121	121	1		1	1		0	0	33	0		9.999999e-01	1	0	121	0	237	0	25	121
INF2	64423	broad.mit.edu	37	14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T	rs376685243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677																																						ENST00000392634.4	1.000000	0.960000	1	9.900000e-01	0.990000	0.996555	0.990000	1.000000																										0				8						c.(3223-3225)Cgt>Tgt		inverted formin, FH2 and WH2 domain containing							40.0	48.0	45.0					14																	105180722		1935	4114	6049	SO:0001583	missense	64423	0	0					g.chr14:105180722C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3223C>T	chr14.hg19:g.105180722C>T	ENSP00000376410:p.Arg1075Cys	0					INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	p.R1075C	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	21	3335	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	0	1	hg19	c.3223C>T	CCDS9989.2	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726340	0.48833	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82255	-1.58;-1.59	4.06	3.15	0.36227	4.06	3.15	0.36227	.	2.226690	0.02138	N	0.056942	D	0.86264	0.5891	L	0.34521	1.04	0.47065	D	0.9993	D;D	0.89917	1.0;0.999	P;P	0.60886	0.88;0.761	T	0.73783	-0.3874	10	0.72032	D	0.01	.	9.5272	0.39171	0.2117:0.7883:0.0:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	C	1075	ENSP00000376406:R1075C;ENSP00000376410:R1075C	ENSP00000252527:R543C	R	+	1	0	0	INF2	104251767	104251767	1.000000	0.71417	0.077000	0.20336	0.958000	0.62258	2.098000	0.41757	0.979000	0.38497	0.491000	0.48974	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.835740	1	0.170000	NM_022489			11	11		55	53	1		1	1		0	0	12	0		9.985911e-01	1	0	99	0	194	0	11	55
INF2	64423	broad.mit.edu	37	14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T	rs372714774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1197					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687																																						ENST00000392634.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				8						c.(3589-3591)gCg>gTg		inverted formin, FH2 and WH2 domain containing		C	VAL/ALA,VAL/ALA	0,4032		0,0,2016	14.0	18.0	17.0		3590,3590	3.5	0.0	14		17	1,8261		0,1,4130	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	64,64	0,1,6146	TT,TC,CC		0.0121,0.0,0.0081	benign,benign	1197/1250,1197/1241	105181089	1,12293	2016	4131	6147	SO:0001583	missense	64423	4	120112	34				g.chr14:105181089C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3590C>T	chr14.hg19:g.105181089C>T	ENSP00000376410:p.Ala1197Val	0					INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	p.A1197V	NM_022489.3	NP_071934.3	0	1	1	1.986586	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	21	3702	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	1	1	hg19	c.3590C>T	CCDS9989.2	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631763	0.29068	0.0	1.21E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;D	0.81499	-1.49;-1.5	4.44	3.55	0.40652	4.44	3.55	0.40652	.	0.371075	0.19509	N	0.112548	T	0.63558	0.2521	N	0.17082	0.46	0.25501	N	0.987559	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.56426	-0.7981	10	0.52906	T	0.07	.	10.3378	0.43860	0.0:0.9063:0.0:0.0937	.	1197;1197	Q27J81-2;Q27J81	.;INF2_HUMAN	V	1197	ENSP00000376406:A1197V;ENSP00000376410:A1197V	ENSP00000252527:A665V	A	+	2	0	0	INF2	104252134	104252134	0.000000	0.05858	0.019000	0.16419	0.218000	0.24690	0.976000	0.29462	0.871000	0.35750	0.491000	0.48974	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_022489			23	22		103	101	1		1	1		0	0	16	0		9.999996e-01	1	0	76	0	115	0	23	103
ADSSL1	122622	broad.mit.edu	37	14	105208312	105208312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000330877.2	+	9	1006	c.921C>T	c.(919-921)atC>atT	p.I307I	ADSSL1_ENST00000332972.5_Silent_p.I350I	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GTGTGGGCATCGGGGCCTTCC	0.682																																						ENST00000330877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(919-921)atC>atT		adenylosuccinate synthase like 1							144.0	119.0	127.0					14																	105208312		2203	4300	6503	SO:0001819	synonymous_variant	122622	1	121408	32				g.chr14:105208312C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.921C>T	chr14.hg19:g.105208312C>T		0					ADSSL1_ENST00000332972.5_Silent_p.I350I	p.I307I	NM_152328.3	NP_689541.1	0	1	1	1.986586			all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	9	1006	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)		Silent	SNP	ENST00000330877.2	1	1	hg19	c.921C>T	CCDS9990.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-20.000000	1	0.170000				148	144		683	675	1		1	0		0	0	130	0		1	7.410305e-01	0	1	0	13	0	148	683
SIVA1	10572	broad.mit.edu	37	14	105222077	105222077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105222077G>T	ENST00000329967.6	+	2	331	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	77					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGGCCCTACAGGGGCCCCGAG	0.667																																						ENST00000329967.6	0.560000	0.160000	4.400000e-01	2.400000e-01	0.330000	0.347250	0.330000	0.310000																										0				3						c.(229-231)Ggg>Tgg		SIVA1, apoptosis-inducing factor							42.0	44.0	43.0					14																	105222077		2203	4300	6503	SO:0001583	missense	10572	0	0					g.chr14:105222077G>T	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.229G>T	chr14.hg19:g.105222077G>T	ENSP00000329213:p.Gly77Trp	0					SIVA1_ENST00000347067.5_Intron	p.G77W	NM_006427.3	NP_006418.2	0	1	1	1.986586	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	2	331	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	0	1	hg19	c.229G>T	CCDS9992.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981899|1.981899	0.34942|0.34942	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	5.1|5.1	4.21|4.21	0.49690|0.49690	5.1|5.1	4.21|4.21	0.49690|0.49690	.|.	0.646995|.	0.14521|.	N|.	0.314427|.	T|T	0.52451|0.52451	0.1735|0.1735	L|L	0.36672|0.36672	1.1|1.1	0.43745|0.43745	D|D	0.996247|0.996247	D;D;D|.	0.69078|.	0.975;0.992;0.997|.	D;D;D|.	0.64321|.	0.911;0.911;0.924|.	T|T	0.45804|0.45804	-0.9236|-0.9236	9|5	0.72032|.	D|.	0.01|.	-9.7975|-9.7975	9.738|9.738	0.40399|0.40399	0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0	.|.	77;77;77|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	W|H	77|94	.|.	ENSP00000329213:G77W|.	G|Q	+|+	1|3	0|2	0|2	SIVA1|SIVA1	104293122|104293122	104293122|104293122	0.015000|0.015000	0.18098|0.18098	0.014000|0.014000	0.15608|0.15608	0.043000|0.043000	0.13939|0.13939	2.116000|2.116000	0.41930|0.41930	1.139000|1.139000	0.42245|0.42245	0.655000|0.655000	0.94253|0.94253	GGG|CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	0	0	1		20	26	2	1		1	1	58		58	57	1	2.060000	-9.985297	1	0.170000	NM_006427			10	10		354	350	0		0	1		1	0	58	0		4.228860e-02	5.531939e-02	0	39	0	468	0	10	354
AKT1	207	broad.mit.edu	37	14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000554581.1	-	4	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	128					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000402615.2	0.650000	0.240000	5.400000e-01	3.200000e-01	0.420000	0.436831	0.420000	0.410000		1		Dom	yes			Dom	yes		14	14q32.32	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1				E	E			breast, colorectal, ovarian, NSCLC		0				176						c.(382-384)aAc>aGc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						146.0	109.0	121.0					14																	105242041		2203	4300	6503	SO:0001583	missense	207	0	0					g.chr14:105242041T>C	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.383A>G	chr14.hg19:g.105242041T>C	ENSP00000451828:p.Asn128Ser	0					AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000554581.1_Missense_Mutation_p.N128S|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000554585.1_5'Flank	p.N128S			0	1	1	1.986586	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	5	1863	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	1	1	hg19	c.383A>G	CCDS9994.1	0	.	.	.	.	.	.	.	.	.	.	T	8.764	0.924363	0.18056	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	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	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000007	T	0.18635	0.0447	N	0.04508	-0.205	0.41335	D	0.987261	B	0.02656	0.0	B	0.04013	0.001	T	0.09684	-1.0663	10	0.06494	T	0.89	.	12.8618	0.57918	0.0:0.0:0.0:1.0	.	128	P31749	AKT1_HUMAN	S	128;128;128;128;128;66;128;66	ENSP00000451828:N128S;ENSP00000384293:N128S;ENSP00000270202:N128S;ENSP00000385326:N128S;ENSP00000450688:N128S;ENSP00000443897:N66S;ENSP00000451166:N128S;ENSP00000451290:N66S	ENSP00000270202:N128S	N	-	2	0	0	AKT1	104313086	104313086	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.828000	0.27435	1.626000	0.50381	0.368000	0.22195	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-14.847840	1	0.170000	NM_005163			15	15		407	401	0		1	1		0	0	64	0		9.998628e-01	9.999605e-01	0	31	0	456	0	15	407
AKT1	207	broad.mit.edu	37	14	105258975	105258975	+	Silent	SNP	G	G	A	rs371534192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000554581.1	-	1	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	2					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000402615.2	1.000000	0.690000	1	8.000000e-01	0.910000	0.907023	0.910000	1.000000		1		Dom	yes			Dom	yes		14	14q32.32	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1				E	E			breast, colorectal, ovarian, NSCLC		0				176						c.(4-6)agC>agT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	G	,,	1,4405	2.1+/-5.4	0,1,2202	107.0	92.0	97.0		6,6,6	0.6	1.0	14		97	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	2/481,2/481,2/481	105258975	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	207	2	121330	37				g.chr14:105258975G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.6C>T	chr14.hg19:g.105258975G>A		0					AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000554581.1_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S	p.S2S			0	1	1	1.986586	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	2	1486	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	1	1	hg19	c.6C>T	CCDS9994.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	0	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-3.318794	1	0.170000	NM_005163			50	50		585	580	0		1	1		0	0	120	0		1	9.999894e-01	0	18	0	175	0	50	585
AHNAK2	113146	broad.mit.edu	37	14	105407193	105407193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000333244.5	-	7	14714	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4865						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)				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)			TTGGTTTATAGAATTTAGGAA	0.488																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				33						c.(14593-14595)ttC>ttT		AHNAK nucleoprotein 2							31.0	33.0	32.0					14																	105407193		1889	4115	6004	SO:0001819	synonymous_variant	113146	0	0					g.chr14:105407193G>A	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.14595C>T	chr14.hg19:g.105407193G>A		0					AHNAK2_ENST00000557457.1_Intron	p.F4865F	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	14714	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	1	1	hg19	c.14595C>T	CCDS45177.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_138420			26	27		114	113	1		1	1		0	0	32	0		1	1	0	40	0	220	0	26	114
AHNAK2	113146	broad.mit.edu	37	14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000333244.5	-	7	13588	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4490						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)				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)			CATCTTTGGCGCAGACACATC	0.572																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(13468-13470)gCg>gTg		AHNAK nucleoprotein 2							165.0	172.0	170.0					14																	105408319		2040	4187	6227	SO:0001583	missense	113146	4	120970	43				g.chr14:105408319G>A	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.13469C>T	chr14.hg19:g.105408319G>A	ENSP00000353114:p.Ala4490Val	0					AHNAK2_ENST00000557457.1_Intron	p.A4490V	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	13588	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.13469C>T	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	A	4.162	0.028622	0.08054	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	1.02	0.19986	3.6	1.02	0.19986	.	0.505334	0.13604	N	0.375608	T	0.00440	0.0014	N	0.04275	-0.24	0.09310	N	1	P	0.40931	0.733	B	0.31390	0.129	T	0.49826	-0.8898	10	0.35671	T	0.21	-2.8578	3.0753	0.06245	0.3547:0.0:0.381:0.2643	.	4490	Q8IVF2	AHNK2_HUMAN	V	4490	ENSP00000353114:A4490V	ENSP00000353114:A4490V	A	-	2	0	0	AHNAK2	104479364	104479364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.141000	0.11374	-1.028000	0.02416	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1		2	2	2	0		0	0	237		237	236	1	2.060000	-20.000000	1	0.170000	NM_138420			203	197		849	839	1		1	1		0	0	237	0		1	1	0	22	0	83	0	203	849
AHNAK2	113146	broad.mit.edu	37	14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000333244.5	-	7	10377	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3420						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)				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)			GGGACTTTTAGGTCCAGCTTG	0.612																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(10258-10260)Cta>Ata		AHNAK nucleoprotein 2							157.0	171.0	166.0					14																	105411530		1892	4131	6023	SO:0001583	missense	113146	0	0					g.chr14:105411530G>T	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.10258C>A	chr14.hg19:g.105411530G>T	ENSP00000353114:p.Leu3420Ile	0					AHNAK2_ENST00000557457.1_Intron	p.L3420I	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	10377	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.10258C>A	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	g	3.767	-0.048412	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.31	-5.55	0.02536	4.31	-5.55	0.02536	.	.	.	.	.	T	0.01695	0.0054	L	0.28014	0.82	0.09310	N	1	B	0.33940	0.433	B	0.26310	0.068	T	0.34153	-0.9840	9	0.19147	T	0.46	.	15.6144	0.76753	0.0:0.7229:0.1753:0.1018	.	3420	Q8IVF2	AHNK2_HUMAN	I	3420	ENSP00000353114:L3420I	ENSP00000353114:L3420I	L	-	1	2	2	AHNAK2	104482575	104482575	.	.	0.040000	0.18447	0.017000	0.09413	.	.	-1.090000	0.03069	-0.479000	0.04858	CTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1		2	3	2	1		1	0	344		344	340	1	2.060000	-20.000000	1	0.170000	NM_138420			301	298		1312	1300	1		1	1		1	0	344	0		1	9.999930e-01	0	63	0	22	0	301	1312
AHNAK2	113146	broad.mit.edu	37	14	105412761	105412761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000333244.5	-	7	9146	c.9027G>A	c.(9025-9027)gaG>gaA	p.E3009E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3009						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)				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)			TCACTTCGGCCTCCACCTTCG	0.612																																						ENST00000333244.5	0.510000	0.300000	4.600000e-01	3.500000e-01	0.400000	0.412284	0.400000	0.410000																										0				33						c.(9025-9027)gaG>gaA		AHNAK nucleoprotein 2							207.0	217.0	214.0					14																	105412761		2015	4154	6169	SO:0001819	synonymous_variant	113146	23	120930	43				g.chr14:105412761C>T	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.9027G>A	chr14.hg19:g.105412761C>T		0					AHNAK2_ENST00000557457.1_Intron	p.E3009E	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	9146	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	1	1	hg19	c.9027G>A	CCDS45177.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1		2	2	2	0		0	0	360		360	362	1	2.060000	-3.569456	1	0.170000	NM_138420			57	54		1584	1558	1		1	1		0	0	360	0		1	3.635975e-01	0	4	0	32	0	57	1584
AHNAK2	113146	broad.mit.edu	37	14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000333244.5	-	7	8991	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2958						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)				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)			TCCAGCCGTGCACCATCCAGC	0.627																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(8872-8874)Gca>Aca		AHNAK nucleoprotein 2							190.0	204.0	199.0					14																	105412916		2032	4185	6217	SO:0001583	missense	113146	1	120948	38				g.chr14:105412916C>T	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.8872G>A	chr14.hg19:g.105412916C>T	ENSP00000353114:p.Ala2958Thr	0					AHNAK2_ENST00000557457.1_Intron	p.A2958T	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	8991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.8872G>A	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	c	7.167	0.586811	0.13749	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	1.88	-2.39	0.06602	1.88	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.28530	T	0.3	.	5.3304	0.15930	0.0:0.4614:0.0:0.5386	.	2958	Q8IVF2	AHNK2_HUMAN	T	2958	ENSP00000353114:A2958T	ENSP00000353114:A2958T	A	-	1	0	0	AHNAK2	104483961	104483961	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.434000	0.06939	-0.642000	0.05480	-0.683000	0.03753	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1		2	2	2	0		0	0	378		378	371	1	2.060000	-20.000000	1	0.170000	NM_138420			368	362		1421	1395	1		1	1		0	0	378	0		1	1	0	14	0	84	0	368	1421
AHNAK2	113146	broad.mit.edu	37	14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000333244.5	-	7	7111	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2331						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)				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)			GCCAAGGGCAGACACCCCAAA	0.602																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(6991-6993)tCt>tAt		AHNAK nucleoprotein 2							191.0	213.0	206.0					14																	105414796		2056	4200	6256	SO:0001583	missense	113146	0	0					g.chr14:105414796G>T	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.6992C>A	chr14.hg19:g.105414796G>T	ENSP00000353114:p.Ser2331Tyr	0					AHNAK2_ENST00000557457.1_Intron	p.S2331Y	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	7111	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.6992C>A	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	-	16.73	3.203847	0.58234	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.64	3.64	0.41730	3.64	3.64	0.41730	.	.	.	.	.	T	0.07098	0.0180	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	9	0.66056	D	0.02	.	10.8683	0.46869	0.0:0.0:1.0:0.0	.	2331	Q8IVF2	AHNK2_HUMAN	Y	2331	ENSP00000353114:S2331Y	ENSP00000353114:S2331Y	S	-	2	0	0	AHNAK2	104485841	104485841	0.860000	0.29831	0.006000	0.13384	0.006000	0.05464	4.252000	0.58785	1.559000	0.49555	0.306000	0.20318	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1		2	2	2	0		0	0	408		408	406	1	2.060000	-3.379386	1	0.170000	NM_138420			327	309		1403	1383	1		1	1		0	0	408	0		1	9.999946e-01	0	56	0	17	0	327	1403
AHNAK2	113146	broad.mit.edu	37	14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T	rs374130169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000333244.5	-	7	5730	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1871						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)				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)			GGAATGCAGAGGTCCGTGGTC	0.662																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(5611-5613)Ctc>Atc		AHNAK nucleoprotein 2		G	ILE/LEU	0,3884		0,0,1942	108.0	126.0	120.0		5611	-2.0	0.0	14		120	3,8199		0,3,4098	no	missense	AHNAK2	NM_138420.2	5	0,3,6040	TT,TG,GG		0.0366,0.0,0.0248	benign	1871/5796	105416177	3,12083	1942	4101	6043	SO:0001583	missense	113146	55	120052	54				g.chr14:105416177G>T	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.5611C>A	chr14.hg19:g.105416177G>T	ENSP00000353114:p.Leu1871Ile	0					AHNAK2_ENST00000557457.1_Intron	p.L1871I	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	5730	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.5611C>A	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	t	5.472	0.272207	0.10349	0.0	3.66E-4	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.92	-2.04	0.07343	3.92	-2.04	0.07343	.	.	.	.	.	T	0.01189	0.0039	M	0.64997	1.995	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.32851	-0.9891	9	0.32370	T	0.25	-7.9399	13.4204	0.60994	0.0:0.4768:0.4255:0.0977	.	1871	Q8IVF2	AHNK2_HUMAN	I	1871	ENSP00000353114:L1871I	ENSP00000353114:L1871I	L	-	1	0	0	AHNAK2	104487222	104487222	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.726000	0.04895	-0.255000	0.11280	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1		2	2	2	0		0	0	293		293	293	1	2.060000	-4.117163	1	0.170000	NM_138420			253	249		1122	1104	1		1	1		0	0	293	0		1	9.999696e-01	0	54	0	12	0	253	1122
AHNAK2	113146	broad.mit.edu	37	14	105418648	105418648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105418648C>A	ENST00000333244.5	-	7	3259	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1047						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)				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)			AGGCTGAATGCTGAGGTCAGT	0.617																																						ENST00000333244.5	0.580000	0.300000	5.100000e-01	3.600000e-01	0.430000	0.444087	0.430000	0.430000																										0				33						c.(3139-3141)aGc>aTc		AHNAK nucleoprotein 2							109.0	120.0	117.0					14																	105418648		1988	4147	6135	SO:0001583	missense	113146	0	0					g.chr14:105418648C>A	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.3140G>T	chr14.hg19:g.105418648C>A	ENSP00000353114:p.Ser1047Ile	0					AHNAK2_ENST00000557457.1_Intron	p.S1047I	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	3259	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.3140G>T	CCDS45177.1	0	.	.	.	.	.	.	.	.	.	.	c	13.35	2.209663	0.39003	.	.	ENSG00000185567	ENST00000333244	T	0.00922	5.54	3.68	-2.37	0.06643	3.68	-2.37	0.06643	.	.	.	.	.	T	0.02888	0.0086	M	0.84433	2.695	0.09310	N	1	D	0.57899	0.981	P	0.54590	0.756	T	0.14282	-1.0478	9	0.42905	T	0.14	.	5.5041	0.16844	0.0:0.2944:0.4327:0.273	.	1047	Q8IVF2	AHNK2_HUMAN	I	1047	ENSP00000353114:S1047I	ENSP00000353114:S1047I	S	-	2	0	0	AHNAK2	104489693	104489693	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.375000	0.20518	-0.725000	0.04901	-0.479000	0.04858	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1		2	2	2	0		0	0	204		204	201	1	2.060000	-3.947790	1	0.170000	NM_138420			36	36		933	906	0		1	1		0	0	204	0		1	7.406379e-01	0	2	0	68	0	36	933
AHNAK2	113146	broad.mit.edu	37	14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000333244.5	-	7	2467	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	783						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)				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)			TTCCGCCTTGGGGCCTTTCAG	0.627																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2347-2349)cCc>cAc		AHNAK nucleoprotein 2							112.0	125.0	121.0					14																	105419440		1857	4091	5948	SO:0001583	missense	113146	0	0					g.chr14:105419440G>T	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.2348C>A	chr14.hg19:g.105419440G>T	ENSP00000353114:p.Pro783His	0					AHNAK2_ENST00000557457.1_Intron	p.P783H	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	2467	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	1	1	hg19	c.2348C>A	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106012	0.37145	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.12	2.21	0.28008	3.12	2.21	0.28008	.	.	.	.	.	T	0.19087	0.0458	M	0.91510	3.215	0.09310	N	1	D	0.67145	0.996	D	0.77004	0.989	T	0.05194	-1.0900	9	0.44086	T	0.13	.	6.823	0.23866	0.2304:0.0:0.7696:0.0	.	783	Q8IVF2	AHNK2_HUMAN	H	783	ENSP00000353114:P783H	ENSP00000353114:P783H	P	-	2	0	0	AHNAK2	104490485	104490485	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	0.699000	0.25586	0.297000	0.22615	0.485000	0.47835	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1		17	2	2	1		1	1	250		250	257	1	2.060000	-3.283455	1	0.170000	NM_138420			256	244		1048	954	1		1	1		1	0	250	0		1	9.914541e-01	0	24	0	8	0	256	1048
AHNAK2	113146	broad.mit.edu	37	14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	499						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)				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)			GGCTCTTTTTCTGTGGAAAAT	0.507																																						ENST00000333244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1495-1497)Gaa>Taa		AHNAK nucleoprotein 2							56.0	59.0	58.0					14																	105420293		1925	4125	6050	SO:0001587	stop_gained	113146	0	0					g.chr14:105420293C>A	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.1495G>T	chr14.hg19:g.105420293C>A	ENSP00000353114:p.Glu499*	0					AHNAK2_ENST00000557457.1_5'Flank	p.E499*	NM_138420.2	NP_612429.2	0	1	1	1.986586	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)	7	1614	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	0	1	hg19	c.1495G>T	CCDS45177.1	1	.	.	.	.	.	.	.	.	.	.	c	37	6.337537	0.97485	.	.	ENSG00000185567	ENST00000333244	.	.	.	5.03	3.12	0.35913	5.03	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.3871	0.32508	0.2317:0.3946:0.3736:0.0	.	.	.	.	X	499	.	ENSP00000353114:E499X	E	-	1	0	0	AHNAK2	104491338	104491338	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.375000	0.20518	0.569000	0.29329	0.561000	0.74099	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_138420			80	79		327	322	1		1	1		0	0	65	0		1	1	0	21	0	82	0	80	327
CDCA4	55038	broad.mit.edu	37	14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	188						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587																																						ENST00000336219.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(562-564)Tac>Cac		cell division cycle associated 4							69.0	64.0	66.0					14																	105477705		2203	4300	6503	SO:0001583	missense	55038	0	0					g.chr14:105477705A>G	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.562T>C	chr14.hg19:g.105477705A>G	ENSP00000337226:p.Tyr188His	0					CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	p.Y188H	NM_017955.3	NP_060425.2	0	1	1	1.986586	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	2	717	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	1	1	hg19	c.562T>C	CCDS9996.1	1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739827	0.49045	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.45276	0.9;0.9	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.70275	2.135	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.63743	-0.6568	10	0.45353	T	0.12	-0.0155	13.5504	0.61728	1.0:0.0:0.0:0.0	.	188	Q9BXL8	CDCA4_HUMAN	H	188	ENSP00000337226:Y188H;ENSP00000376369:Y188H	ENSP00000337226:Y188H	Y	-	1	0	0	CDCA4	104548750	104548750	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	5.796000	0.69080	1.856000	0.53863	0.529000	0.55759	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_145701			59	59		269	262	1		1	1		0	0	45	0		1	9.971099e-01	0	12	0	31	0	59	269
GPR132	29933	broad.mit.edu	37	14	105517442	105517442	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000329797.3	-	4	1943	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_ENST00000539291.2_Silent_p.T344T|GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000546679.1_5'Flank	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	344					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)			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)		GCAGCTCCTCGGTGTCCCTGC	0.607																																						ENST00000329797.3	0.860000	0.330000	7.200000e-01	4.400000e-01	0.560000	0.585271	0.560000	0.550000																										0				18						c.(1030-1032)acC>acT		G protein-coupled receptor 132							173.0	142.0	152.0					14																	105517442		2203	4300	6503	SO:0001819	synonymous_variant	29933	3	121412	37				g.chr14:105517442G>A	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.1032C>T	chr14.hg19:g.105517442G>A		0					GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.T344T	p.T344T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	0	1	1	1.986586	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	4	1943	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	1	1	hg19	c.1032C>T	CCDS9997.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-2.831633	1	0.170000	NM_013345			16	16		317	311	0		1	0		0	0	68	0		9.999285e-01	2.886745e-01	0	0	0	21	0	16	317
GPR132	29933	broad.mit.edu	37	14	105517775	105517775	+	Silent	SNP	G	G	A	rs75775050	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517775G>A	ENST00000329797.3	-	4	1610	c.699C>T	c.(697-699)agC>agT	p.S233S	GPR132_ENST00000539291.2_Silent_p.S233S|GPR132_ENST00000392585.2_Silent_p.S224S|GPR132_ENST00000546679.1_5'Flank	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	233					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.S233S(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)		TCTGGGCAGCGCTTAAGCCCA	0.577													G|||	26	0.00519169	0.0	0.0	5008	,	,		22218	0.0248		0.001	False		,,,				2504	0.0					ENST00000329797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S233S(1)	stomach(1)	18						c.(697-699)agC>agT		G protein-coupled receptor 132		G		0,4406		0,0,2203	96.0	87.0	90.0		699	0.1	0.3	14	dbSNP_131	90	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	GPR132	NM_013345.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		233/381	105517775	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	29933	230	121412	54				g.chr14:105517775G>A	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.699C>T	chr14.hg19:g.105517775G>A		0					GPR132_ENST00000392585.2_Silent_p.S224S|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.S233S	p.S233S	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	0	1	1	1.986586	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	4	1610	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	1	0	hg19	c.699C>T	CCDS9997.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.710193	1	0.170000	NM_013345			80	80		258	258	1		1	0		0	0	64	0		1	9.650560e-01	0	1	0	19	0	80	258
JAG2	3714	broad.mit.edu	37	14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	807	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTTGACGCCGTCAACACAG	0.667																																						ENST00000331782.3	1.000000	0.770000	1	9.900000e-01	0.990000	0.983697	0.990000	1.000000																										0				22						c.(2419-2421)Ggc>Agc		jagged 2							32.0	27.0	28.0					14																	105613723		2176	4287	6463	SO:0001583	missense	3714	1	120320	18				g.chr14:105613723C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2419G>A	chr14.hg19:g.105613723C>T	ENSP00000328169:p.Gly807Ser	0					JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	p.G807S	NM_002226.4	NP_002217.3	0	1	1	1.986586	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	20	2822	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	0	1	hg19	c.2419G>A	CCDS9998.1	1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.906351	0.92107	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.96459	-4.02;-4.02	4.19	4.19	0.49359	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.97566	1.0101	10	0.62326	D	0.03	.	15.6731	0.77295	0.0:1.0:0.0:0.0	.	769;807	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	807;769	ENSP00000328169:G807S;ENSP00000328566:G769S	ENSP00000328169:G807S	G	-	1	0	0	JAG2	104684768	104684768	0.987000	0.35691	0.868000	0.34077	0.640000	0.38277	5.757000	0.68766	2.172000	0.68678	0.446000	0.29264	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-17.334410	1	0.170000				10	9		68	67	0		1	0		0	0	10	0		9.971549e-01	4.939700e-01	0	0	0	12	0	10	68
JAG2	3714	broad.mit.edu	37	14	105614748	105614748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	683	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCGGCTGTGGCAGGGATCGG	0.692																																						ENST00000331782.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996279	0.990000	1.000000																										0				22						c.(2047-2049)tgC>tgT		jagged 2							22.0	22.0	22.0					14																	105614748		2186	4289	6475	SO:0001819	synonymous_variant	3714	0	0					g.chr14:105614748G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2049C>T	chr14.hg19:g.105614748G>A		0					JAG2_ENST00000347004.2_Silent_p.C645C	p.C683C	NM_002226.4	NP_002217.3	0	1	1	1.986586	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	16	2452	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	1	1	hg19	c.2049C>T	CCDS9998.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				26	26		193	190	0		1	0		0	0	34	0		9.999999e-01	4.790205e-01	0	0	0	13	0	26	193
JAG2	3714	broad.mit.edu	37	14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	394	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCGGCCGCACACGGGTTCGA	0.657																																						ENST00000331782.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(1180-1182)tGt>tAt		jagged 2							36.0	34.0	35.0					14																	105617706		2203	4300	6503	SO:0001583	missense	3714	0	0					g.chr14:105617706C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1181G>A	chr14.hg19:g.105617706C>T	ENSP00000328169:p.Cys394Tyr	0					RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	p.C394Y	NM_002226.4	NP_002217.3	0	1	1	1.986586	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	9	1584	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	1	1	hg19	c.1181G>A	CCDS9998.1	1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235646	0.58886	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.99992	-12.4;-12.4	3.76	3.76	0.43208	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99989	1.3819	10	0.87932	D	0	.	13.0718	0.59066	0.0:1.0:0.0:0.0	.	394;394	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	394	ENSP00000328169:C394Y;ENSP00000328566:C394Y	ENSP00000328169:C394Y	C	-	2	0	0	JAG2	104688751	104688751	1.000000	0.71417	0.446000	0.26920	0.386000	0.30323	5.834000	0.69361	1.610000	0.50200	0.297000	0.19635	TGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				36	36		154	151	1		1	1		0	0	53	0		1	6.954158e-01	0	2	0	10	0	36	154
JAG2	3714	broad.mit.edu	37	14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	254	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCATCCCCCGTGGAGCAAA	0.647																																						ENST00000331782.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(760-762)Ggg>Agg		jagged 2							100.0	100.0	100.0					14																	105621927		2203	4300	6503	SO:0001583	missense	3714	0	0					g.chr14:105621927C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.760G>A	chr14.hg19:g.105621927C>T	ENSP00000328169:p.Gly254Arg	0					RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.G254R	p.G254R	NM_002226.4	NP_002217.3	0	1	1	1.986586	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	5	1163	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	1	1	hg19	c.760G>A	CCDS9998.1	1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694988	0.68386	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.48836	0.8;0.8	3.76	3.76	0.43208	3.76	3.76	0.43208	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.76300	0.3968	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84545	0.0641	10	0.87932	D	0	.	14.9103	0.70752	0.0:1.0:0.0:0.0	.	254;254	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	R	254	ENSP00000328169:G254R;ENSP00000328566:G254R	ENSP00000328169:G254R	G	-	1	0	0	JAG2	104692972	104692972	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.059000	0.76684	1.796000	0.52611	0.563000	0.77884	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.389816	0	0.170000				119	119		549	539	1		1	1		0	0	87	0		1	7.015543e-01	0	2	0	11	0	119	549
NUDT14	256281	broad.mit.edu	37	14	105643299	105643299	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGGCCTCACCTGGCCGGAA	0.612										HNSCC(42;0.11)																												ENST00000392568.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998011	0.990000	1.000000																										0				14						c.e3+1		nudix (nucleoside diphosphate linked moiety X)-type motif 14							39.0	33.0	35.0					14																	105643299		2193	4289	6482	SO:0001630	splice_region_variant	256281	0	0					g.chr14:105643299C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.190+1G>A	chr14.hg19:g.105643299C>T		0	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA		NM_177533.4	NP_803877.2	0	1	1	1.986586	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	3	284	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Q86SJ8	Splice_Site	SNP	ENST00000392568.2	1	1	hg19		CCDS10000.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947373	0.73672	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.99	3.99	0.46301	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8587	0.52453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NUDT14	104714344	104714344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.518000	0.67068	2.506000	0.84524	0.655000	0.94253	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_177533	Intron		15	15		83	83	1		1			0	0	40	0		9.999170e-01	0	0	0	0	0	0	15	83
BRF1	2972	broad.mit.edu	37	14	105677562	105677562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	631					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667																																						ENST00000546474.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1891-1893)agC>agT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							45.0	44.0	44.0					14																	105677562		2202	4299	6501	SO:0001819	synonymous_variant	2972	2	121374	36				g.chr14:105677562G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1893C>T	chr14.hg19:g.105677562G>A		0					BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron	p.S631S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	0	1	1	1.986586	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	17	16852	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	1	1	hg19	c.1893C>T	CCDS10001.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-3.579664	1	0.170000	NM_001519			87	84		330	323	0		1	1		0	0	68	0		1	9.979905e-01	0	11	0	27	0	87	330
BRF1	2972	broad.mit.edu	37	14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	233					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607																																						ENST00000546474.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(697-699)Ctc>Atc		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							242.0	216.0	225.0					14																	105695248		2203	4300	6503	SO:0001583	missense	2972	0	0					g.chr14:105695248G>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.697C>A	chr14.hg19:g.105695248G>T	ENSP00000448323:p.Leu233Ile	0					BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I	p.L233I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	0	1	1	1.986586	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	7	15656	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	1	1	hg19	c.697C>A	CCDS10001.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848046|2.848046	0.51164|0.51164	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.999	.|D;D;D	.|0.79108	.|0.946;0.99;0.992	T|T	0.79095|0.79095	-0.1944|-0.1944	6|9	0.87932|0.72032	D|D	0|0.01	.|.	16.143|16.143	0.81539|0.81539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;206;233	.|F5H5Z7;Q92994-5;Q92994	.|.;.;TF3B_HUMAN	D|I	86|29;206;233;29;29;29;118;118;29;29;29	.|.	ENSP00000450258:A86D|ENSP00000329029:L118I	A|L	-|-	2|1	0|0	0|0	BRF1|BRF1	104766293|104766293	104766293|104766293	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.004000|0.004000	0.04260|0.04260	8.878000|8.878000	0.92393|0.92393	2.397000|2.397000	0.81536|0.81536	0.591000|0.591000	0.81541|0.81541	GCT|CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	1	0	1		2	2	2	0		0	0	256		256	253	1	2.060000	-20.000000	1	0.170000	NM_001519			286	282		1064	1045	1		1	1		0	0	256	0		1	9.692539e-01	0	8	0	15	0	286	1064
BRF1	2972	broad.mit.edu	37	14	105739099	105739099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105739099G>A	ENST00000546474.1	-	3	15357	c.398C>T	c.(397-399)gCt>gTt	p.A133V	BRF1_ENST00000548421.1_Missense_Mutation_p.A133V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	133					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GAGGCAGGCAGCAATCACGTG	0.622																																						ENST00000546474.1	0.410000	0.110000	3.200000e-01	1.600000e-01	0.230000	0.249740	0.230000	0.220000																										0				24						c.(397-399)gCt>gTt		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							64.0	58.0	60.0					14																	105739099		2203	4300	6503	SO:0001583	missense	2972	0	0					g.chr14:105739099G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.398C>T	chr14.hg19:g.105739099G>A	ENSP00000448323:p.Ala133Val	0					BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V	p.A133V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	0	1	1	1.986586	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	3	15357	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	0	1	hg19	c.398C>T	CCDS10001.1	0	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579328	0.86645	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513;ENST00000550692;ENST00000548421;ENST00000345053	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.997;0.995;1.0;0.999	D;D;D;D	0.77557	0.963;0.97;0.99;0.99	D	0.89856	0.4013	9	0.87932	D	0	.	15.8531	0.78952	0.0:0.0:1.0:0.0	.	18;106;133;133	F5H5Z7;Q92994-5;Q96KX3;Q92994	.;.;.;TF3B_HUMAN	V	106;133;18;18;18;133;133	.	ENSP00000329029:A18V	A	-	2	0	0	BRF1	104810144	104810144	1.000000	0.71417	0.590000	0.28732	0.485000	0.33311	9.158000	0.94723	2.333000	0.79357	0.650000	0.86243	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	0	0	0		20	3	2	1		1	1	79		79	75	1	2.060000	-7.797883	1	0.170000	NM_001519			9	9		453	440	0		0	0		1	0	79	0		2.359874e-02	2.587630e-02	0	0	0	28	0	9	453
MTA1	9112	broad.mit.edu	37	14	105905013	105905013	+	Silent	SNP	C	C	T	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000405646.1_Silent_p.Y11Y|MTA1_ENST00000406191.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	11	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612																																						ENST00000331320.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.Y11Y(1)	endometrium(1)	14						c.(31-33)taC>taT		metastasis associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	151.0	149.0	149.0		33,33	-2.5	1.0	14	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	11/431,11/716	105905013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9112	4	121408	41				g.chr14:105905013C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.33C>T	chr14.hg19:g.105905013C>T		0					MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	0	1	1	1.986586	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	2	247	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	1	1	hg19	c.33C>T	CCDS32169.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15	0	0	0		2	2	2	0		0	0	164		164	164	1	2.060000	-20.000000	1	0.170000				178	176		767	754	0		1	1		0	0	164	0		1	7.703961e-01	0	3	0	11	0	178	767
CRIP2	1397	broad.mit.edu	37	14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000329146.4	+	8	1334	c.621G>T	c.(619-621)caG>caT	p.Q207H	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	207					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGTCCAGCCCTAGGCTA	0.677																																						ENST00000329146.4	1.000000	0.330000	1	5.200000e-01	0.770000	0.764224	0.770000	1.000000																										0				2						c.(619-621)caG>caT		cysteine-rich protein 2							79.0	68.0	72.0					14																	105945984		2194	4290	6484	SO:0001583	missense	1397	0	0					g.chr14:105945984G>T		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.621G>T	chr14.hg19:g.105945984G>T	ENSP00000328521:p.Gln207His	0					CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H|CRIP2_ENST00000548989.1_3'UTR	p.Q207H	NM_001312.3	NP_001303.1	0	1	1	1.986586	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	8	1334	+		Melanoma(154;0.226)	A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	1	1	hg19	c.621G>T	CCDS10003.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724626|2.724626	0.48833|0.48833	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|T;T	.|0.73789	.|-0.78;-0.28	4.06|4.06	4.06|4.06	0.47325|0.47325	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|.	.|.	.|.	.|.	T|T	0.73528|0.73528	0.3598|0.3598	N|N	0.19112|0.19112	0.55|0.55	0.47621|0.47621	D|D	0.999477|0.999477	.|D;D;D	.|0.65815	.|0.989;0.995;0.989	.|P;P;P	.|0.62885	.|0.854;0.908;0.795	T|T	0.76165|0.76165	-0.3059|-0.3059	5|9	.|0.62326	.|D	.|0.03	-3.9129|-3.9129	11.5747|11.5747	0.50854|0.50854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;207;207	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	S|H	103;191|281;207	.|ENSP00000426119:Q281H;ENSP00000328521:Q207H	.|ENSP00000328521:Q207H	A|Q	+|+	1|3	0|2	0|2	CRIP2|CRIP2	105017029|105017029	105017029|105017029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.142000|0.142000	0.21351|0.21351	2.940000|2.940000	0.49003|0.49003	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	GCC|CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-10.521330	1	0.170000	NM_001312			6	6		87	87	0		1	0		0	0	27	0		9.666314e-01	8.128469e-01	0	1	0	46	0	6	87
OR11H12	440153	broad.mit.edu	37	14	19377733	19377733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	ENST00000550708.1	+	1	212	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTCTTTACTACAACATAT	0.423																																						ENST00000550708.1			0	0																														0				22						c.(139-141)aCt>aTt		olfactory receptor, family 11, subfamily H, member 12							57.0	63.0	61.0					14																	19377733		2192	4293	6485	SO:0001583	missense	440153	0	0					g.chr14:19377733C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.140C>T	chr14.hg19:g.19377733C>T	ENSP00000449002:p.Thr47Ile							p.T47I	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1					B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	212	+	all_cancers(95;0.00108)			Missense_Mutation	SNP	ENST00000550708.1	1	1	hg19	c.140C>T	CCDS32017.1		.	.	.	.	.	.	.	.	.	.	c	4.775	0.144168	0.09134	.	.	ENSG00000257115	ENST00000550708	T	0.00569	6.52	.	.	.	.	.	.	.	0.818440	0.10176	N	0.706451	T	0.00384	0.0012	N	0.20483	0.58	0.24248	N	0.995334	B	0.20261	0.043	B	0.15484	0.013	T	0.43686	-0.9376	8	0.66056	D	0.02	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	47	B2RN74	O11HC_HUMAN	I	47	ENSP00000449002:T47I	ENSP00000449002:T47I	T	+	2	0	0	CR383656.1	18447733	18447733	0.000000	0.05858	0.814000	0.32528	0.065000	0.16274	-0.124000	0.10595	0.413000	0.25759	0.064000	0.15345	ACT			TCGA-IB-7651-01A-11D-2154-08	0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	0	0	1		2	2	2	0		0	0	109		109	160	1	2.060000	-18.506850	1	0.170000	NM_001013354			54	37		451	335	0		1			0	0	109	0		1	0	0	0	0	0	0	54	451
POTEG	404785	broad.mit.edu	37	14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318																																						ENST00000409832.3	1.000000	0.540000	8.900000e-01	6.400000e-01	0.750000	0.768897	0.750000	1.000000																										0				47						c.(1099-1101)aaA>aaC		POTE ankyrin domain family, member G							84.0	98.0	93.0					14																	19566057		1508	2699	4207	SO:0001583	missense	404785	0	0					g.chr14:19566057A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1101A>C	chr14.hg19:g.19566057A>C	ENSP00000386971:p.Lys367Asn	0					CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	p.K367N	NM_001005356.2	NP_001005356.1	0	1	1	1.986586	Q6S5H5	POTEG_HUMAN		6	1153	+			A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	1	1	hg19	c.1101A>C	CCDS32018.1	0	.	.	.	.	.	.	.	.	.	.	a	10.67	1.416102	0.25552	.	.	ENSG00000222036	ENST00000409832	T	0.16897	2.31	2.2	-1.92	0.07618	2.2	-1.92	0.07618	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.48362	1.52	0.09310	N	1	B	0.21147	0.052	B	0.24541	0.054	T	0.34750	-0.9816	9	0.39692	T	0.17	.	5.1066	0.14787	0.3344:0.0:0.0:0.6656	.	367	Q6S5H5	POTEG_HUMAN	N	367	ENSP00000386971:K367N	ENSP00000386971:K367N	K	+	3	2	2	POTEG	18636057	18636057	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	-0.002000	0.14469	0.155000	0.16302	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	0	0	1		2	2	2	0		0	0	126		126	128	1	2.060000	-20.000000	1	0.170000	NM_001005356			36	28		519	375	0		1			0	0	126	0		1	0	0	0	0	0	0	36	519
OR4Q3	441669	broad.mit.edu	37	14	20215653	20215653	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383																																						ENST00000331723.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				47						c.(67-69)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							156.0	158.0	157.0					14																	20215653		2203	4300	6503	SO:0001819	synonymous_variant	441669	0	0					g.chr14:20215653C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.67C>T	chr14.hg19:g.20215653C>T		0						p.L23L	NM_172194.1	NP_751944.1	0	1	1	1.986586	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	67	+	all_cancers(95;0.00108)		Q6IEX4	Silent	SNP	ENST00000331723.1	1	1	hg19	c.67C>T	CCDS32020.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000				89	88		649	639	1		1			0	0	155	0		1	0	0	0	0	0	0	89	649
OR4Q3	441669	broad.mit.edu	37	14	20216181	20216181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTAGAGGTGCTGGTGATAGC	0.498																																						ENST00000331723.1	0.820000	0.340000	6.900000e-01	4.400000e-01	0.550000	0.571249	0.550000	0.550000																										0				47						c.(595-597)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							210.0	164.0	179.0					14																	20216181		2203	4300	6503	SO:0001819	synonymous_variant	441669	0	0					g.chr14:20216181C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.595C>T	chr14.hg19:g.20216181C>T		0						p.L199L	NM_172194.1	NP_751944.1	0	1	1	1.986586	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	595	+	all_cancers(95;0.00108)		Q6IEX4	Silent	SNP	ENST00000331723.1	1	1	hg19	c.595C>T	CCDS32020.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	0	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-4.986176	1	0.170000				19	19		384	375	0		1			0	0	73	0		9.999893e-01	0	0	0	0	0	0	19	384
OR4Q3	441669	broad.mit.edu	37	14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483																																						ENST00000331723.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.991617	0.990000	1.000000																										0				47						c.(709-711)Gtc>Atc		olfactory receptor, family 4, subfamily Q, member 3							166.0	151.0	156.0					14																	20216295		2203	4300	6503	SO:0001583	missense	441669	0	0					g.chr14:20216295G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.709G>A	chr14.hg19:g.20216295G>A	ENSP00000330049:p.Val237Ile	0						p.V237I	NM_172194.1	NP_751944.1	0	1	1	1.986586	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	709	+	all_cancers(95;0.00108)		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	1	1	hg19	c.709G>A	CCDS32020.1	1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807218	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.00202	8.56	4.1	4.1	0.47936	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.182095	0.25798	U	0.028227	T	0.00178	0.0005	L	0.31578	0.945	0.09310	N	0.999998	B	0.27166	0.17	B	0.32022	0.139	T	0.48896	-0.8994	10	0.87932	D	0	.	13.8562	0.63529	0.0:0.0:1.0:0.0	.	237	Q8NH05	OR4Q3_HUMAN	I	237	ENSP00000330049:V237I	ENSP00000330049:V237I	V	+	1	0	0	OR4Q3	19286135	19286135	0.986000	0.35501	0.967000	0.41034	0.006000	0.05464	3.452000	0.52971	2.106000	0.64143	0.509000	0.49947	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	1		2	2	2	0		0	0	125		125	121	1	2.060000	-20.000000	1	0.170000				63	61		583	575	0		1			0	0	125	0		1	0	0	0	0	0	0	63	583
OR4M1	441670	broad.mit.edu	37	14	20248580	20248580	+	Silent	SNP	C	C	A	rs546810415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413													.|||	1	0.000199681	0.0	0.0	5008	,	,		25304	0.001		0.0	False		,,,				2504	0.0					ENST00000315957.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(97-99)tcC>tcA		olfactory receptor, family 4, subfamily M, member 1							200.0	216.0	210.0					14																	20248580		2203	4300	6503	SO:0001819	synonymous_variant	441670	0	0					g.chr14:20248580C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.99C>A	chr14.hg19:g.20248580C>A		0						p.S33S	NM_001005500.1	NP_001005500.1	0	1	1	1.986586	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	180	+	all_cancers(95;0.00108)		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	1	1	hg19	c.99C>A	CCDS32021.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1	1	0	1		2	2	2	0		0	0	283		283	284	1	2.060000	-3.318794	1	0.170000				185	180		1349	1310	1		1			0	0	283	0		1	0	0	0	0	0	0	185	1349
OR4M1	441670	broad.mit.edu	37	14	20249045	20249045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458																																						ENST00000315957.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(562-564)gcC>gcA		olfactory receptor, family 4, subfamily M, member 1							300.0	265.0	277.0					14																	20249045		2203	4297	6500	SO:0001819	synonymous_variant	441670	0	0					g.chr14:20249045C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.564C>A	chr14.hg19:g.20249045C>A		0						p.A188A	NM_001005500.1	NP_001005500.1	0	1	1	1.986586	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	645	+	all_cancers(95;0.00108)		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	1	1	hg19	c.564C>A	CCDS32021.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1	1	0	1		2	2	2	0		0	0	268		268	315	1	2.060000	-20.000000	1	0.170000				188	168		1154	1003	0		1			0	0	268	0		1	0	0	0	0	0	0	188	1154
OR4N2	390429	broad.mit.edu	37	14	20296207	20296207	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296207C>A	ENST00000315947.1	+	1	600	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TTCTGATGGTCTTCAACAGTG	0.512																																						ENST00000315947.1	0.410000	0.180000	3.500000e-01	2.200000e-01	0.280000	0.294453	0.280000	0.290000																										0				52						c.(598-600)gtC>gtA		olfactory receptor, family 4, subfamily N, member 2							144.0	143.0	143.0					14																	20296207		2203	4300	6503	SO:0001819	synonymous_variant	390429	0	0					g.chr14:20296207C>A		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.600C>A	chr14.hg19:g.20296207C>A		0					OR4N2_ENST00000568211.1_3'UTR	p.V200V	NM_001004723.1	NP_001004723.1	0	1	1	1.986586	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	600	+	all_cancers(95;0.00108)		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	1	1	hg19	c.600C>A	CCDS32022.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2	0	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-3.160731	1	0.170000				22	22		886	866	0		1			0	0	150	0		9.999983e-01	0	0	0	0	0	0	22	886
OR4N2	390429	broad.mit.edu	37	14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TTTAATAAGCACATAGCCTGA	0.343																																						ENST00000315947.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				52						c.(913-915)cAc>cGc		olfactory receptor, family 4, subfamily N, member 2							23.0	25.0	24.0					14																	20296521		2187	4226	6413	SO:0001583	missense	390429	0	0					g.chr14:20296521A>G		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.914A>G	chr14.hg19:g.20296521A>G	ENSP00000319601:p.His305Arg	0					OR4N2_ENST00000568211.1_3'UTR	p.H305R	NM_001004723.1	NP_001004723.1	0	1	1	1.986586	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	914	+	all_cancers(95;0.00108)		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	1	1	hg19	c.914A>G	CCDS32022.1	1	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289193	0.10513	.	.	ENSG00000176294	ENST00000315947	T	0.00001	9.91	4.57	2.05	0.26809	4.57	2.05	0.26809	.	0.281551	0.25566	N	0.029790	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.01192	-1.1423	10	0.22706	T	0.39	.	6.2231	0.20693	0.674:0.1664:0.0:0.1596	.	305	Q8NGD1	OR4N2_HUMAN	R	305	ENSP00000319601:H305R	ENSP00000319601:H305R	H	+	2	0	0	OR4N2	19366361	19366361	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.702000	0.37836	0.301000	0.22738	0.482000	0.46254	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2	1	0	1		2	2	2	0		0	0	42		42	44	1	2.060000	-20.000000	1	0.170000				35	34		208	203	0		1			0	0	42	0		1	0	0	0	0	0	0	35	208
OR4K5	79317	broad.mit.edu	37	14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TGAGCCGAAGGACATGCACTG	0.453																																						ENST00000315915.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(415-417)agG>agT		olfactory receptor, family 4, subfamily K, member 5							241.0	238.0	239.0					14																	20389182		2203	4300	6503	SO:0001583	missense	79317	1	121412	37				g.chr14:20389182G>T	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.417G>T	chr14.hg19:g.20389182G>T	ENSP00000319511:p.Arg139Ser	0						p.R139S	NM_001005483.1	NP_001005483.1	0	1	1	1.986586	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	442	+	all_cancers(95;0.00108)		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	1	1	hg19	c.417G>T	CCDS32024.1	1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189108	0.09547	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.41	-4.2	0.03823	4.41	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	0.544994	0.16027	N	0.233039	T	0.28300	0.0699	L	0.55213	1.73	0.09310	N	1	B	0.21452	0.056	B	0.24974	0.057	T	0.27938	-1.0059	10	0.59425	D	0.04	.	0.8276	0.01124	0.4045:0.1219:0.2264:0.2472	.	139	Q8NGD3	OR4K5_HUMAN	S	139	ENSP00000319511:R139S	ENSP00000319511:R139S	R	+	3	2	2	OR4K5	19459022	19459022	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-2.953000	0.00676	-0.847000	0.04168	-0.137000	0.14449	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	0	0	1		18	2	2	1		1	1	310		310	308	1	2.060000	-20.000000	1	0.170000	NM_001005483			198	195		1342	1315	1		1			1	0	310	0		1	0	0	0	0	0	0	198	1342
OR4K1	79544	broad.mit.edu	37	14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, 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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438																																						ENST00000285600.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999081	0.990000	1.000000																										0				43						c.(373-375)Gcc>Tcc		olfactory receptor, family 4, subfamily K, member 1							136.0	130.0	132.0					14																	20404198		2203	4300	6503	SO:0001583	missense	79544	0	0					g.chr14:20404198G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.373G>T	chr14.hg19:g.20404198G>T	ENSP00000285600:p.Ala125Ser	0						p.A125S	NM_001004063.2	NP_001004063.2	0	1	1	1.986586	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	432	+	all_cancers(95;0.00108)		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	1	1	hg19	c.373G>T	CCDS32025.1	1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.936499	0.73442	.	.	ENSG00000155249	ENST00000285600	T	0.01209	5.17	4.94	4.94	0.65067	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.15089	0.0364	H	0.98786	4.33	0.38505	D	0.948311	D	0.89917	1.0	D	0.91635	0.999	T	0.30416	-0.9979	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	125	Q8NGD4	OR4K1_HUMAN	S	125	ENSP00000285600:A125S	ENSP00000285600:A125S	A	+	1	0	0	OR4K1	19474038	19474038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.825000	0.75293	2.557000	0.86248	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1	1	0	0		2	2	2	0		0	0	127		127	127	1	2.060000	-19.999970	1	0.170000				77	76		642	632	1		1			0	0	127	0		1	0	0	0	0	0	0	77	642
OR4K1	79544	broad.mit.edu	37	14	20404376	20404376	+	Missense_Mutation	SNP	T	T	C	rs138642977	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404376T>C	ENST00000285600.4	+	1	610	c.551T>C	c.(550-552)gTg>gCg	p.V184A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTCCCTTGGTGATAGAGCTG	0.453																																						ENST00000285600.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(550-552)gTg>gCg		olfactory receptor, family 4, subfamily K, member 1							161.0	165.0	164.0					14																	20404376		2203	4300	6503	SO:0001583	missense	79544	0	0					g.chr14:20404376T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.551T>C	chr14.hg19:g.20404376T>C	ENSP00000285600:p.Val184Ala	0						p.V184A	NM_001004063.2	NP_001004063.2	0	1	1	1.986586	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	610	+	all_cancers(95;0.00108)		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	1	0	hg19	c.551T>C	CCDS32025.1	1	.	.	.	.	.	.	.	.	.	.	.	19.35	3.811479	0.70797	.	.	ENSG00000155249	ENST00000285600	T	0.00231	8.49	4.82	4.82	0.62117	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.138510	0.33854	N	0.004496	T	0.00815	0.0027	H	0.95611	3.695	0.33978	D	0.64758	P	0.50272	0.933	D	0.65573	0.936	T	0.10245	-1.0638	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	184	Q8NGD4	OR4K1_HUMAN	A	184	ENSP00000285600:V184A	ENSP00000285600:V184A	V	+	2	0	0	OR4K1	19474216	19474216	0.125000	0.22332	1.000000	0.80357	0.927000	0.56198	2.704000	0.47118	2.011000	0.59026	0.460000	0.39030	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-5.341058	1	0.170000				115	111		614	596	1		1			0	0	133	0		1	0	0	0	0	0	0	115	614
OR4K14	122740	broad.mit.edu	37	14	20482665	20482665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20482665C>T	ENST00000305045.2	-	1	687	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CTACCGGCAGCACGCTGTCTG	0.493																																						ENST00000305045.2	0.760000	0.170000	5.800000e-01	2.700000e-01	0.400000	0.433252	0.400000	0.390000																										0				37						c.(688-690)Gct>Act		olfactory receptor, family 4, subfamily K, member 14							96.0	79.0	85.0					14																	20482665		2203	4300	6503	SO:0001583	missense	122740	0	0					g.chr14:20482665C>T		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.688G>A	chr14.hg19:g.20482665C>T	ENSP00000305011:p.Ala230Thr	0						p.A230T	NM_001004712.1	NP_001004712.1	0	1	1	1.986586	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	1	687	-	all_cancers(95;0.00108)		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	0	1	hg19	c.688G>A	CCDS32027.1	0	.	.	.	.	.	.	.	.	.	.	.	6.804	0.517319	0.13005	.	.	ENSG00000169484	ENST00000305045	T	0.35789	1.29	4.04	1.91	0.25777	4.04	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15451	N	0.261671	T	0.17577	0.0422	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.13872	-1.0493	10	0.59425	D	0.04	.	3.1463	0.06473	0.4265:0.3728:0.0:0.2007	.	230	Q8NGD5	OR4KE_HUMAN	T	230	ENSP00000305011:A230T	ENSP00000305011:A230T	A	-	1	0	0	OR4K14	19552505	19552505	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-1.249000	0.02888	0.864000	0.35578	0.505000	0.49811	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.825802	1	0.170000				6	6		176	174	0		1			0	0	42	0		9.645480e-01	0	0	0	0	0	0	6	176
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GCCATACATCCTCCAAAGGAG	0.488																																						ENST00000305045.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				37						c.(289-291)Gga>Tga		olfactory receptor, family 4, subfamily K, member 14							105.0	98.0	100.0					14																	20483064		2203	4300	6503	SO:0001587	stop_gained	122740	0	0					g.chr14:20483064C>A		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.289G>T	chr14.hg19:g.20483064C>A	ENSP00000305011:p.Gly97*	0						p.G97*	NM_001004712.1	NP_001004712.1	0	1	1	1.986586	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	1	288	-	all_cancers(95;0.00108)		Q6IEU1|Q96R71	Nonsense_Mutation	SNP	ENST00000305045.2	0	1	hg19	c.289G>T	CCDS32027.1	1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.412246	0.83340	.	.	ENSG00000169484	ENST00000305045	.	.	.	4.04	4.04	0.47022	4.04	4.04	0.47022	.	0.000000	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000305011:G97X	G	-	1	0	0	OR4K14	19552904	19552904	0.007000	0.16637	1.000000	0.80357	0.915000	0.54546	2.340000	0.43974	2.086000	0.62901	0.505000	0.49811	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.240057	1	0.170000				43	43		230	220	1		1			0	0	52	0		1	0	0	0	0	0	0	43	230
OR11G2	390439	broad.mit.edu	37	14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|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)		CTGTACCAATCTTGTGGTCAA	0.443																																						ENST00000357366.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				22						c.(544-546)Ctt>Att		olfactory receptor, family 11, subfamily G, member 2							112.0	94.0	100.0					14																	20666038		2203	4300	6503	SO:0001583	missense	390439	0	0					g.chr14:20666038C>A		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.544C>A	chr14.hg19:g.20666038C>A	ENSP00000349930:p.Leu182Ile	0						p.L182I	NM_001005503.1	NP_001005503.1	0	1	1	1.986586	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	1	544	+	all_cancers(95;0.00108)		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	1	1	hg19	c.544C>A	CCDS32032.1	1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308375	0.23821	.	.	ENSG00000196832	ENST00000357366	T	0.39056	1.1	4.93	4.93	0.64822	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000814	T	0.65165	0.2665	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.60342	-0.7282	10	0.62326	D	0.03	.	10.6449	0.45615	0.0:0.9109:0.0:0.0891	.	182	Q8NGC1	O11G2_HUMAN	I	182	ENSP00000349930:L182I	ENSP00000349930:L182I	L	+	1	0	0	OR11G2	19735878	19735878	0.001000	0.12720	0.099000	0.21106	0.002000	0.02628	-0.184000	0.09698	2.565000	0.86533	0.650000	0.86243	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				47	46		274	266	1		1			0	0	43	0		1	0	0	0	0	0	0	47	274
OR11G2	390439	broad.mit.edu	37	14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|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)		ATTGTGGGGTCCTATGCTCTG	0.498																																						ENST00000357366.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(763-765)tCc>tTc		olfactory receptor, family 11, subfamily G, member 2							200.0	198.0	198.0					14																	20666258		2203	4300	6503	SO:0001583	missense	390439	0	0					g.chr14:20666258C>T		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.764C>T	chr14.hg19:g.20666258C>T	ENSP00000349930:p.Ser255Phe	0						p.S255F	NM_001005503.1	NP_001005503.1	0	1	1	1.986586	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	1	764	+	all_cancers(95;0.00108)		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	1	1	hg19	c.764C>T	CCDS32032.1	1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442884	0.63067	.	.	ENSG00000196832	ENST00000357366	T	0.42513	0.97	4.93	4.93	0.64822	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.145321	0.31747	N	0.007129	T	0.63271	0.2497	H	0.94808	3.585	0.28100	N	0.931451	P	0.40909	0.732	P	0.47470	0.548	T	0.67945	-0.5539	10	0.87932	D	0	.	12.1995	0.54317	0.1708:0.8292:0.0:0.0	.	255	Q8NGC1	O11G2_HUMAN	F	255	ENSP00000349930:S255F	ENSP00000349930:S255F	S	+	2	0	0	OR11G2	19736098	19736098	1.000000	0.71417	0.925000	0.36789	0.786000	0.44442	7.118000	0.77137	2.565000	0.86533	0.650000	0.86243	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1	1	0	1		2	2	2	0		0	0	199		199	198	1	2.060000	-20.000000	1	0.170000				176	171		885	865	1		1			0	0	199	0		1	0	0	0	0	0	0	176	885
OR11H6	122748	broad.mit.edu	37	14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307N(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)		AATCCCCTTATCTATAGTCTT	0.408																																						ENST00000315519.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.I307N(1)	liver(1)	29						c.(919-921)aTc>aCc		olfactory receptor, family 11, subfamily H, member 6							98.0	101.0	100.0					14																	20692788		2203	4300	6503	SO:0001583	missense	122748	0	0					g.chr14:20692788T>C		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.920T>C	chr14.hg19:g.20692788T>C	ENSP00000319071:p.Ile307Thr	0						p.I307T	NM_001004480.1	NP_001004480.1	0	1	1	1.986586	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	1	998	+	all_cancers(95;0.00108)		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	1	1	hg19	c.920T>C	CCDS32033.1	1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164991	0.38217	.	.	ENSG00000176219	ENST00000315519	T	0.57273	0.41	5.0	5.0	0.66597	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.73410	0.3583	H	0.96916	3.905	0.38505	D	0.948328	P	0.45672	0.864	P	0.48770	0.589	D	0.83968	0.0325	10	0.87932	D	0	.	12.6958	0.57003	0.0:0.0:0.0:1.0	.	307	Q8NGC7	O11H6_HUMAN	T	307	ENSP00000319071:I307T	ENSP00000319071:I307T	I	+	2	0	0	OR11H6	19762628	19762628	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	7.402000	0.79972	2.094000	0.63399	0.386000	0.25728	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000				128	127		471	466	1		1			0	0	132	0		1	0	0	0	0	0	0	128	471
TTC5	91875	broad.mit.edu	37	14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	150					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)			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)		AGTGTCAGTCCGCAGCTGACG	0.502																																						ENST00000258821.3	1.000000	0.570000	1	7.000000e-01	0.850000	0.849937	0.850000	1.000000																										0				15						c.(448-450)cGg>cAg		tetratricopeptide repeat domain 5							156.0	125.0	136.0					14																	20767555		2203	4300	6503	SO:0001583	missense	91875	1	121412	28				g.chr14:20767555C>T	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.449G>A	chr14.hg19:g.20767555C>T	ENSP00000258821:p.Arg150Gln	0						p.R150Q	NM_138376.2	NP_612385.2	0	1	1	1.986586	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	4	505	-	all_cancers(95;0.00092)		A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	1	1	hg19	c.449G>A	CCDS9546.1	1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534768	0.27475	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.89	1.0	0.19881	4.89	1.0	0.19881	Tetratricopeptide-like helical (1);	0.201780	0.44902	N	0.000412	T	0.14270	0.0345	N	0.15975	0.35	0.28403	N	0.918559	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.12766	T	0.61	.	9.0259	0.36230	0.0:0.6849:0.0:0.3151	.	150	Q8N0Z6	TTC5_HUMAN	Q	150	ENSP00000258821:R150Q	ENSP00000258821:R150Q	R	-	2	0	0	TTC5	19837395	19837395	0.991000	0.36638	0.502000	0.27614	0.937000	0.57800	2.490000	0.45294	0.083000	0.17047	-0.127000	0.14921	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.429495	0	0.170000	NM_138376			26	25		330	329	1		1	1		0	0	46	0		9.999999e-01	6.411771e-01	0	5	0	24	0	26	330
TTC5	91875	broad.mit.edu	37	14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	55					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)			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)		CTTCCATCTGCTGTAGGGTTT	0.473																																						ENST00000258821.3	1.000000	0.650000	1	7.800000e-01	0.930000	0.907790	0.930000	1.000000																										0				15						c.(163-165)caG>caT		tetratricopeptide repeat domain 5							250.0	193.0	212.0					14																	20770011		2203	4300	6503	SO:0001583	missense	91875	0	0					g.chr14:20770011C>A	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.165G>T	chr14.hg19:g.20770011C>A	ENSP00000258821:p.Gln55His	0						p.Q55H	NM_138376.2	NP_612385.2	0	1	1	1.986586	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	2	221	-	all_cancers(95;0.00092)		A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	1	1	hg19	c.165G>T	CCDS9546.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.565085|1.565085	0.27915|0.27915	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821;ENST00000553828	.|T	.|0.32272	.|1.46	4.44|4.44	0.638|0.638	0.17742|0.17742	4.44|4.44	0.638|0.638	0.17742|0.17742	.|Tetratricopeptide-like helical (1);	.|0.349613	.|0.31279	.|N	.|0.007923	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.19112|0.19112	0.55|0.55	0.28962|0.28962	N|N	0.889745|0.889745	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.48119	.|T	.|0.1	.|.	1.72|1.72	0.02909|0.02909	0.1481:0.4512:0.1449:0.2559|0.1481:0.4512:0.1449:0.2559	.|.	.|55	.|Q8N0Z6	.|TTC5_HUMAN	S|H	55|55;6	.|ENSP00000258821:Q55H	.|ENSP00000258821:Q55H	A|Q	-|-	1|3	0|2	0|2	TTC5|TTC5	19839851|19839851	19839851|19839851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.827000|0.827000	0.27421|0.27421	0.520000|0.520000	0.28426|0.28426	0.650000|0.650000	0.86243|0.86243	GCA|CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-9.714752	1	0.170000	NM_138376			32	30		368	360	0		1	1		0	0	77	0		1	9.632763e-01	0	5	0	59	0	32	368
CCNB1IP1	57820	broad.mit.edu	37	14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	25					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473			T	HMGA2	leiomyoma																																	ENST00000398169.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000				Dom	yes			Dom	yes		14	14q11.2	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""				M	M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				9						c.(73-75)gTc>gCc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							114.0	102.0	106.0					14																	20784609		2203	4300	6503	SO:0001583	missense	57820	0	0					g.chr14:20784609A>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.74T>C	chr14.hg19:g.20784609A>G	ENSP00000381235:p.Val25Ala	0					CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A	p.V25A			0	1	1	1.986586	Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	5	690	-	all_cancers(95;0.00092)	all_lung(585;0.235)		Missense_Mutation	SNP	ENST00000398169.3	1	1	hg19	c.74T>C	CCDS9547.1	1	.	.	.	.	.	.	.	.	.	.	A	35	5.475759	0.96291	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	L	0.48642	1.525	0.53005	D	0.999965	D	0.64830	0.994	P	0.60541	0.876	D	0.94325	0.7557	10	0.87932	D	0	-18.525	15.6114	0.76721	1.0:0.0:0.0:0.0	.	25	Q9NPC3	CIP1_HUMAN	A	25;25;25;25;25;25;25;56	ENSP00000381226:V25A;ENSP00000381235:V25A;ENSP00000351810:V25A;ENSP00000337396:V25A;ENSP00000409896:V25A;ENSP00000381229:V25A;ENSP00000452486:V25A	ENSP00000337396:V25A	V	-	2	0	0	CCNB1IP1	19854449	19854449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.326000	0.78906	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_021178, NM_182849, NM_182851, NM_182852			43	39		248	246	1		1	1		0	0	71	0		1	9.999997e-01	0	37	0	99	0	43	248
PARP2	10038	broad.mit.edu	37	14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)			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)		AGATGGTTATACCCTCAACTA	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1657-1659)Acc>Gcc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							116.0	111.0	113.0					14																	20825861		1882	4122	6004	SO:0001583	missense	10038	0	0					g.chr14:20825861A>G	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.1657A>G	chr14.hg19:g.20825861A>G	ENSP00000250416:p.Thr553Ala	0					PARP2_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	p.T553A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	0	1	1	1.986586	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	16	1684	+	all_cancers(95;0.00092)	all_lung(585;0.235)	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	1	1	hg19	c.1657A>G	CCDS41910.1	1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872388	0.33069	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04809	3.55;3.55	5.65	4.52	0.55395	5.65	4.52	0.55395	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.028;0.282	B;B	0.24006	0.008;0.05	T	0.47355	-0.9124	10	0.29301	T	0.29	-16.6007	10.6316	0.45541	0.9247:0.0:0.0753:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	540;553	ENSP00000392972:T540A;ENSP00000250416:T553A	ENSP00000250416:T553A	T	+	1	0	0	PARP2	19895701	19895701	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.408000	0.59761	1.166000	0.42689	0.533000	0.62120	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2	0	0	1		17	4	2	1		1	1	96		96	96	1	2.060000	-20.000000	1	0.170000				78	75		409	400	1		1	1		1	0	96	0		1	9.936797e-01	0	23	0	42	0	78	409
TEP1	7011	broad.mit.edu	37	14	20841224	20841224	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000262715.5	-	48	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					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)			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)		CCCCAGCTTGATTTCCAGATA	0.517																																						ENST00000262715.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(6895-6897)aaT>aaC		telomerase-associated protein 1							77.0	76.0	76.0					14																	20841224		2203	4300	6503	SO:0001819	synonymous_variant	7011	0	0					g.chr14:20841224A>G		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.6897T>C	chr14.hg19:g.20841224A>G		0					TEP1_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	p.N2299N	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	48	6937	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Silent	SNP	ENST00000262715.5	1	1	hg19	c.6897T>C	CCDS9548.1	1	.	.	.	.	.	.	.	.	.	.	A	8.398	0.841223	0.16891	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	2.15	0.27550	5.77	2.15	0.27550	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.27235	N	0.959305	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.6531	5.7984	0.18399	0.6254:0.0:0.3746:0.0	.	.	.	.	P	6	.	.	S	-	1	0	0	TEP1	19911064	19911064	0.199000	0.23386	0.366000	0.25914	0.978000	0.69477	0.583000	0.23849	0.469000	0.27268	-0.250000	0.11733	TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000	NM_007110			69	67		327	312	0		1	1		0	0	81	0		1	9.968933e-01	0	15	0	29	0	69	327
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000262715.5	-	46	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					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)			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)		ATGCCATAACCGTGTGGCCCC	0.557																																						ENST00000262715.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(6661-6663)cGg>cAg		telomerase-associated protein 1		C	GLN/ARG	0,4406		0,0,2203	75.0	67.0	70.0		6662	3.4	1.0	14	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TEP1	NM_007110.4	43	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	2221/2628	20841685	5,13001	2203	4300	6503	SO:0001583	missense	7011	9	121412	40				g.chr14:20841685C>T		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.6662G>A	chr14.hg19:g.20841685C>T	ENSP00000262715:p.Arg2221Gln	0					TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	p.R2221Q	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	46	6702	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	1	1	hg19	c.6662G>A	CCDS9548.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305268	0.40795	0.0	5.81E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	1.89;1.89;0.1	5.25	3.41	0.39046	5.25	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411730	0.25307	N	0.031618	T	0.35799	0.0944	N	0.19112	0.55	0.27025	N	0.964372	B;B;B;B	0.31125	0.09;0.309;0.266;0.206	B;B;B;B	0.23852	0.008;0.049;0.027;0.022	T	0.15780	-1.0425	10	0.33940	T	0.23	-14.7572	7.4458	0.27211	0.0:0.7966:0.0:0.2034	.	559;2113;1564;2221	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2221;2221;2113;559	ENSP00000262715:R2221Q;ENSP00000452574:R2113Q;ENSP00000438849:R559Q	ENSP00000262715:R2221Q	R	-	2	0	0	TEP1	19911525	19911525	0.415000	0.25416	0.993000	0.49108	0.927000	0.56198	0.585000	0.23879	0.593000	0.29745	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_007110			44	44		192	186	1		1	1		0	0	62	0		1	9.982039e-01	0	12	0	33	0	44	192
TEP1	7011	broad.mit.edu	37	14	20841723	20841723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000262715.5	-	46	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2208					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)			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)		CCACCAGAAGCTCTGACCCAG	0.572																																						ENST00000262715.5	1.000000	0.480000	9.800000e-01	6.200000e-01	0.780000	0.790986	0.780000	1.000000																										0				96						c.(6622-6624)gaG>gaA		telomerase-associated protein 1							74.0	69.0	70.0					14																	20841723		2203	4300	6503	SO:0001819	synonymous_variant	7011	0	0					g.chr14:20841723C>T		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.6624G>A	chr14.hg19:g.20841723C>T		0					TEP1_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	p.E2208E	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	46	6664	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Silent	SNP	ENST00000262715.5	1	1	hg19	c.6624G>A	CCDS9548.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-19.957010	1	0.170000	NM_007110			17	17		237	229	1		1	1		0	0	72	0		9.999606e-01	8.649814e-01	0	9	0	43	0	17	237
TEP1	7011	broad.mit.edu	37	14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000262715.5	-	43	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N|TEP1_ENST00000545983.1_Missense_Mutation_p.D456N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2118					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)			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)		AGTAGGTTATCTTTGGTCCAG	0.582																																						ENST00000262715.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				96						c.(6352-6354)Gat>Aat		telomerase-associated protein 1							56.0	56.0	56.0					14																	20843925		2203	4300	6503	SO:0001583	missense	7011	0	0					g.chr14:20843925C>T		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.6352G>A	chr14.hg19:g.20843925C>T	ENSP00000262715:p.Asp2118Asn	0					TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N	p.D2118N	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	43	6392	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	1	1	hg19	c.6352G>A	CCDS9548.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492157	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.18;2.18;-1.45	5.62	4.74	0.60224	5.62	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219026	0.46145	N	0.000317	T	0.80788	0.4690	L	0.33339	1.005	0.38011	D	0.934544	D;B;D;B	0.60575	0.988;0.291;0.985;0.339	P;B;P;B	0.58266	0.836;0.177;0.802;0.168	T	0.81852	-0.0742	10	0.39692	T	0.17	-13.3143	11.8809	0.52576	0.0:0.9179:0.0:0.0821	.	456;2010;1461;2118	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	N	2118;2118;2010;456	ENSP00000262715:D2118N;ENSP00000452574:D2010N;ENSP00000438849:D456N	ENSP00000262715:D2118N	D	-	1	0	0	TEP1	19913765	19913765	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	1.942000	0.40243	1.380000	0.46344	0.563000	0.77884	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_007110			33	33		161	159	1		1	1		0	0	46	0		1	9.988314e-01	0	17	0	37	0	33	161
TEP1	7011	broad.mit.edu	37	14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000262715.5	-	30	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)			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)		CGGTAGTGTCCGCCACACACT	0.597																																						ENST00000262715.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(4315-4317)cGg>cAg		telomerase-associated protein 1							137.0	112.0	121.0					14																	20850180		2203	4300	6503	SO:0001583	missense	7011	10	121412	39				g.chr14:20850180C>T		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.4316G>A	chr14.hg19:g.20850180C>T	ENSP00000262715:p.Arg1439Gln	0					TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q	p.R1439Q	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	30	4356	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	1	1	hg19	c.4316G>A	CCDS9548.1	1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131068	0.21041	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.47177	0.89;0.85	5.22	-1.1	0.09872	5.22	-1.1	0.09872	.	1.168410	0.06032	N	0.653340	T	0.32823	0.0842	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.23490	0.086;0.009;0.052	B;B;B	0.12837	0.008;0.005;0.003	T	0.16630	-1.0396	10	0.22706	T	0.39	-6.439	0.6813	0.00875	0.1717:0.3262:0.1566:0.3455	.	1331;782;1439	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1439;1439;1331	ENSP00000262715:R1439Q;ENSP00000452574:R1331Q	ENSP00000262715:R1439Q	R	-	2	0	0	TEP1	19920020	19920020	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	-0.892000	0.04131	-0.080000	0.12685	0.462000	0.41574	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.068176	1	0.170000	NM_007110			57	56		274	269	1		1	1		0	0	55	0		1	9.992280e-01	0	10	0	44	0	57	274
TEP1	7011	broad.mit.edu	37	14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	rs144854568	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000262715.5	-	5	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	301	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				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)			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)		ACATTCCGGACGTTCAGCTGC	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(901-903)Gtc>Atc		telomerase-associated protein 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	62.0	64.0		901	-8.0	0.0	14	dbSNP_134	64	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	301/2628	20872901	1,13005	2203	4300	6503	SO:0001583	missense	7011	4	121412	36				g.chr14:20872901C>T		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.901G>A	chr14.hg19:g.20872901C>T	ENSP00000262715:p.Val301Ile	0					TEP1_ENST00000556935.1_Intron	p.V301I	NM_007110.4	NP_009041.2	0	1	1	1.986586	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	5	941	-	all_cancers(95;0.00123)	all_lung(585;0.235)	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	1	1	hg19	c.901G>A	CCDS9548.1	1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169402	0.09339	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13307	2.6	5.55	-7.97	0.01139	5.55	-7.97	0.01139	TROVE (2);	0.481200	0.21268	N	0.077374	T	0.02230	0.0069	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41910	-0.9482	10	0.02654	T	1	-1.0592	3.0455	0.06152	0.0847:0.1609:0.1646:0.5899	.	301	Q99973	TEP1_HUMAN	I	301	ENSP00000262715:V301I	ENSP00000262715:V301I	V	-	1	0	0	TEP1	19942741	19942741	0.221000	0.23642	0.005000	0.12908	0.695000	0.40330	-0.075000	0.11431	-1.621000	0.01562	-0.150000	0.13652	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-19.999920	1	0.170000	NM_007110			44	44		214	208	1		1	1		0	0	58	0		1	9.455722e-01	0	6	0	20	0	44	214
OSGEP	55644	broad.mit.edu	37	14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000206542.4	-	8	1145	c.724G>A	c.(724-726)Gta>Ata	p.V242I	OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I|OSGEP_ENST00000555656.1_Missense_Mutation_p.V43I	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	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;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGATCTCTACCAGCATTGCA	0.473																																						ENST00000206542.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.990911	0.990000	1.000000																										0				11						c.(724-726)Gta>Ata		O-sialoglycoprotein endopeptidase							110.0	115.0	113.0					14																	20916132		2203	4300	6503	SO:0001583	missense	55644	0	0					g.chr14:20916132C>T	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.724G>A	chr14.hg19:g.20916132C>T	ENSP00000206542:p.Val242Ile	0					OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I|OSGEP_ENST00000555656.1_Missense_Mutation_p.V43I	p.V242I	NM_017807.3	NP_060277.1	0	1	1	1.986586			Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	8	1145	-	all_cancers(95;0.00123)	all_lung(585;0.235)		Missense_Mutation	SNP	ENST00000206542.4	1	1	hg19	c.724G>A	CCDS9549.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016385	0.54468	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.71	4.71	0.59529	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.058863	0.64402	D	0.000003	T	0.44993	0.1320	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.33690	0.168	T	0.42666	-0.9438	10	0.45353	T	0.12	-6.2207	16.4221	0.83766	0.0:1.0:0.0:0.0	.	242	Q9NPF4	OSGEP_HUMAN	I	43;242;60;60;43	ENSP00000451784:V43I;ENSP00000206542:V242I;ENSP00000451548:V60I;ENSP00000450464:V60I;ENSP00000451787:V43I	ENSP00000206542:V242I	V	-	1	0	0	OSGEP	19985972	19985972	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	1	0	0		2	2	2	0		0	0	133		133	131	1	2.060000	-17.711230	1	0.170000	NM_017807			58	59		535	524	0		1	1		0	0	133	0		1	9.912391e-01	0	6	0	63	0	58	535
TMEM55B	90809	broad.mit.edu	37	14	20928928	20928928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	73	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	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)		CACTGTCCGGGCTAGTTAAGG	0.562																																						ENST00000250489.4	0.450000	0.160000	3.700000e-01	2.200000e-01	0.290000	0.303264	0.290000	0.290000																										0				11						c.(217-219)agC>agT		transmembrane protein 55B							111.0	108.0	109.0					14																	20928928		2203	4300	6503	SO:0001819	synonymous_variant	90809	0	0					g.chr14:20928928G>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.219C>T	chr14.hg19:g.20928928G>A		0					TMEM55B_ENST00000398020.4_Silent_p.S80S|TMEM55B_ENST00000554028.1_5'Flank	p.S73S			0	1	1	1.986586	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	2	505	-	all_cancers(95;0.00123)	all_lung(585;0.235)	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	1	1	hg19	c.219C>T	CCDS9551.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	0	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-3.007564	1	0.170000	NM_144568			15	15		596	591	0		1	1		0	0	149	0		9.998644e-01	9.339552e-01	0	9	0	177	0	15	596
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A	rs199763463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						AACTTTCCCCGAAGTACAGGT	0.468																																						ENST00000361505.5	1.000000	0.470000	1	6.300000e-01	0.830000	0.823752	0.830000	1.000000																										0				10						c.(172-174)cGa>cAa		purine nucleoside phosphorylase							57.0	51.0	53.0					14																	20940628		2203	4300	6503	SO:0001583	missense	4860	4	121412	35				g.chr14:20940628G>A		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.173G>A	chr14.hg19:g.20940628G>A	ENSP00000354532:p.Arg58Gln	0					RP11-203M5.8_ENST00000554678.1_lincRNA	p.R58Q	NM_000270.3	NP_000261.2	0	1	1	1.986586	P01298	PAHO_HUMAN		2	319	+				Missense_Mutation	SNP	ENST00000361505.5	0	1	hg19	c.173G>A	CCDS9552.1	0	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623376	0.28889	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.87103	-0.99;-2.21;-2.21	5.54	-10.7	0.00240	5.54	-10.7	0.00240	Nucleoside phosphorylase domain (1);	0.798013	0.12104	N	0.499173	T	0.54029	0.1833	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.56980	-0.7889	10	0.09843	T	0.71	0.7706	8.7381	0.34541	0.3584:0.0:0.4603:0.1813	.	58;58;58	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	Q	58;58;97	ENSP00000450663:R58Q;ENSP00000354532:R58Q;ENSP00000452421:R97Q	ENSP00000354532:R58Q	R	+	2	0	0	PNP	20010468	20010468	0.000000	0.05858	0.022000	0.16811	0.689000	0.40095	-0.715000	0.04997	-2.479000	0.00524	-2.290000	0.00267	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-6.064157	1	0.170000	NM_000270.2			13	13		170	168	0		1	1		0	0	54	0		9.995639e-01	9.999299e-01	0	28	0	206	0	13	170
RNASE11	122651	broad.mit.edu	37	14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448																																						ENST00000610205.1	1.000000	0.630000	1	7.800000e-01	0.950000	0.911253	0.950000	1.000000																										0				21						c.(517-519)aGt>aTt		ribonuclease, RNase A family, 11 (non-active)							106.0	88.0	94.0					14																	21052116		2203	4300	6503	SO:0001583	missense	122651	0	0					g.chr14:21052116C>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.518G>T	chr14.hg19:g.21052116C>A	ENSP00000476537:p.Ser173Ile	0					RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I	p.S173I	NM_145250.3	NP_660293.1	0	1	1	1.986586	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	3	701	-	all_cancers(95;0.00238)	all_lung(585;0.235)		Missense_Mutation	SNP	ENST00000610205.1	1	1	hg19	c.518G>T	CCDS9553.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103399	0.56291	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.06	3.17	0.36434	4.06	3.17	0.36434	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.72606	0.3481	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.60541	0.876	T	0.60209	-0.7308	10	0.56958	D	0.05	-12.3081	7.8189	0.29276	0.0:0.8873:0.0:0.1127	.	173	Q8TAA1	RNS11_HUMAN	I	173	ENSP00000338288:S173I;ENSP00000451318:S173I;ENSP00000451563:S173I;ENSP00000381093:S173I;ENSP00000381092:S173I;ENSP00000395210:S173I;ENSP00000401398:S173I;ENSP00000451839:S173I	ENSP00000338288:S173I	S	-	2	0	0	RNASE11	20121956	20121956	0.041000	0.20044	0.005000	0.12908	0.226000	0.24999	1.381000	0.34362	1.297000	0.44761	0.511000	0.50034	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_145250			23	23		258	256	0		1			0	0	54	0		9.999995e-01	0	0	0	0	0	0	23	258
EDDM3A	10876	broad.mit.edu	37	14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	41					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393																																						ENST00000326842.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(121-123)Cca>Tca		epididymal protein 3A							96.0	96.0	96.0					14																	21215860		2203	4300	6503	SO:0001583	missense	10876	0	0					g.chr14:21215860C>T	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.121C>T	chr14.hg19:g.21215860C>T	ENSP00000315098:p.Pro41Ser	0						p.P41S	NM_006683.4	NP_006674.2	0	1	1	1.986586	Q14507	EP3A_HUMAN		2	248	+			Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	1	1	hg19	c.121C>T	CCDS9556.1	1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570464	0.13560	.	.	ENSG00000181562	ENST00000326842	T	0.44881	0.91	2.46	-0.08	0.13708	2.46	-0.08	0.13708	Ribonuclease A, domain (2);	1.089430	0.07136	N	0.846540	T	0.30135	0.0755	L	0.38531	1.155	0.09310	N	1	B	0.28233	0.204	B	0.32724	0.151	T	0.30475	-0.9977	10	0.21540	T	0.41	.	3.3642	0.07198	0.304:0.542:0.0:0.154	.	41	Q14507	EP3A_HUMAN	S	41	ENSP00000315098:P41S	ENSP00000315098:P41S	P	+	1	0	0	EDDM3A	20285700	20285700	0.000000	0.05858	0.036000	0.18154	0.306000	0.27790	-0.629000	0.05508	-0.231000	0.09825	0.313000	0.20887	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				80	79		389	382	1		1			0	0	86	0		1	0	0	0	0	0	0	80	389
RNASE13	440163	broad.mit.edu	37	14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	104						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498																																						ENST00000382951.3	1.000000	0.840000	1	9.600000e-01	0.990000	0.983527	0.990000	1.000000																										0				12						c.(310-312)caG>caT		ribonuclease, RNase A family, 13 (non-active)							254.0	205.0	222.0					14																	21502136		2203	4300	6503	SO:0001583	missense	440163	0	0					g.chr14:21502136C>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.312G>T	chr14.hg19:g.21502136C>A	ENSP00000372410:p.Gln104His	0					NDRG2_ENST00000403829.3_Intron	p.Q104H	NM_001012264.3	NP_001012264.1	0	1	1	1.986586	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	2	449	-	all_cancers(95;0.000759)			Missense_Mutation	SNP	ENST00000382951.3	1	1	hg19	c.312G>T	CCDS32039.1	1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050194	0.19827	.	.	ENSG00000206150	ENST00000382951	T	0.73258	-0.73	5.42	3.32	0.38043	5.42	3.32	0.38043	Ribonuclease A, domain (3);	1.234980	0.05590	N	0.574488	T	0.53012	0.1770	N	0.12182	0.205	0.09310	N	1	B	0.19073	0.033	B	0.25405	0.06	T	0.41106	-0.9527	10	0.33940	T	0.23	-46.6539	5.426	0.16425	0.0:0.6805:0.208:0.1115	.	104	Q5GAN3	RNS13_HUMAN	H	104	ENSP00000372410:Q104H	ENSP00000372410:Q104H	Q	-	3	2	2	RNASE13	20571976	20571976	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.439000	0.21575	2.545000	0.85829	0.650000	0.86243	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-2.619824	1	0.170000				52	50		498	484	0		1			0	0	114	0		1	0	0	0	0	0	0	52	498
ZNF219	51222	broad.mit.edu	37	14	21561402	21561402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000421093.2_Silent_p.P18P|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	18					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(52-54)ccG>ccA		zinc finger protein 219							11.0	12.0	12.0					14																	21561402		2158	4218	6376	SO:0001819	synonymous_variant	51222	0	0					g.chr14:21561402C>T	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.54G>A	chr14.hg19:g.21561402C>T		0		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000421093.2_Silent_p.P18P|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000556101.1_5'Flank	p.P18P	NM_016423.2	NP_057507.2	0	1	1	1.986586	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	3	465	-	all_cancers(95;0.00185)		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	1	1	hg19	c.54G>A	CCDS9568.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				30	30		108	104	1		1	1		0	0	26	0		1	9.923887e-01	0	12	0	19	0	30	108
HNRNPC	3183	broad.mit.edu	37	14	21702191	21702191	+	Silent	SNP	G	G	A	rs117138992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000320084.7	-	2	401	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000430246.2_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000449098.1_Silent_p.F54F	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18339	0.0		0.001	False		,,,				2504	0.0				NSCLC(108;607 2244 12726 38757)	ENST00000320084.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(160-162)ttC>ttT		heterogeneous nuclear ribonucleoprotein C (C1/C2)							86.0	85.0	85.0					14																	21702191		2193	4294	6487	SO:0001819	synonymous_variant	3183	2	121338	32				g.chr14:21702191G>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.162C>T	chr14.hg19:g.21702191G>A		0					HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000430246.2_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F	p.F54F	NM_001077442.1	NP_001070910.1	0	1	1	1.986586	P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	2	401	-	all_cancers(95;0.00176)		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Silent	SNP	ENST00000320084.7	1	1	hg19	c.162C>T	CCDS41915.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.552399	1	0.170000				144	141		549	538	0		1	1		0	0	104	0		1	1	0	717	0	1003	0	144	549
RPGRIP1	57096	broad.mit.edu	37	14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000400017.2	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	465					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)				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)		CAGCCACAATTTCCCAACCTC	0.458																																						ENST00000400017.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1393-1395)atT>atG		retinitis pigmentosa GTPase regulator interacting protein 1							50.0	49.0	49.0					14																	21788264		1924	4135	6059	SO:0001583	missense	57096	0	0					g.chr14:21788264T>G	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.1395T>G	chr14.hg19:g.21788264T>G	ENSP00000382895:p.Ile465Met	0					RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M	p.I465M	NM_020366.3	NP_065099.3	0	1	1	1.986586	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	11	1395	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	1	1	hg19	c.1395T>G	CCDS45080.1	1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170421	0.21621	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76060	-0.16;-0.94;-0.99;-0.99;-0.48	4.68	-2.0	0.07433	4.68	-2.0	0.07433	.	1.272670	0.04951	N	0.460368	T	0.64864	0.2637	L	0.54323	1.7	0.09310	N	0.999995	B;P;B	0.38250	0.015;0.624;0.306	B;B;B	0.38954	0.023;0.286;0.11	T	0.51710	-0.8671	10	0.35671	T	0.21	2.5688	0.4158	0.00448	0.1926:0.1991:0.2835:0.3248	.	107;81;465	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	M	438;438;465;465;107;132	ENSP00000450445:I438M;ENSP00000451219:I438M;ENSP00000382895:I465M;ENSP00000206660:I465M;ENSP00000372391:I107M	ENSP00000206660:I465M	I	+	3	3	3	RPGRIP1	20858104	20858104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.230000	0.09083	-0.325000	0.08577	-0.256000	0.11100	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_020366			36	36		136	123	1		1			0	0	28	0		1	0	0	0	0	0	0	36	136
SUPT16H	11198	broad.mit.edu	37	14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	rs143235888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	569					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)			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)		AAGTTGATTCGCAAGTAAGTA	0.398																																						ENST00000216297.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1705-1707)Cga>Tga		suppressor of Ty 16 homolog (S. cerevisiae)							66.0	61.0	62.0					14																	21830444		2203	4300	6503	SO:0001587	stop_gained	11198	0	0					g.chr14:21830444G>A	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.1705C>T	chr14.hg19:g.21830444G>A	ENSP00000216297:p.Arg569*	0						p.R569*	NM_007192.3	NP_009123.1	0	1	1	1.986586	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	15	2043	-	all_cancers(95;0.00115)		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	0	1	hg19	c.1705C>T	CCDS9569.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.835193	0.98972	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	4.83	0.62350	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8971	9.2709	0.37670	0.0:0.1376:0.5956:0.2667	.	.	.	.	X	569	.	ENSP00000216297:R569X	R	-	1	2	2	SUPT16H	20900284	20900284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.400000	0.46741	0.650000	0.86243	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.834526	1	0.170000				51	51		190	185	1		1	1		0	0	38	0		1	1	0	4	0	137	0	51	190
CHD8	57680	broad.mit.edu	37	14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000557364.1	-	36	7283	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2340					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)			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)		GACCCTGTAACCACATCTCCA	0.512																																						ENST00000557364.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999832	0.990000	1.000000																										0				85						c.(7018-7020)tgG>tgA		chromodomain helicase DNA binding protein 8							50.0	51.0	51.0					14																	21859667		2025	4166	6191	SO:0001587	stop_gained	57680	0	0					g.chr14:21859667C>T	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.7020G>A	chr14.hg19:g.21859667C>T	ENSP00000451601:p.Trp2340*	0					SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*	p.W2340*			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	36	7283	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	0	1	hg19	c.7020G>A	CCDS53885.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.257496	0.99828	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6396	18.1527	0.89679	0.0:1.0:0.0:0.0	.	.	.	.	X	2061;2340;2060;2340	.	ENSP00000262707:W2060X	W	-	3	0	0	CHD8	20929507	20929507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.819000	0.97034	0.655000	0.94253	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_020920			22	22		110	109	1		1	1		0	0	43	0		9.999993e-01	1	0	29	0	154	0	22	110
CHD8	57680	broad.mit.edu	37	14	21861744	21861744	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	ENST00000557364.1	-	32	6473	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Silent_p.D2070D|CHD8_ENST00000430710.3_Silent_p.D1791D			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2070	Ser-rich.				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)			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)		CCAGCTCAGAGTCCGAATCAT	0.522																																						ENST00000557364.1	1.000000	0.700000	1	9.600000e-01	0.990000	0.972754	0.990000	1.000000																										0				85						c.(6208-6210)gaC>gaT		chromodomain helicase DNA binding protein 8							43.0	45.0	44.0					14																	21861744		2086	4216	6302	SO:0001819	synonymous_variant	57680	0	0					g.chr14:21861744G>A	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.6210C>T	chr14.hg19:g.21861744G>A		0					SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Silent_p.D1791D|CHD8_ENST00000399982.2_Silent_p.D2070D|CHD8_ENST00000555962.1_5'Flank	p.D2070D			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	32	6473	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	0	1	hg19	c.6210C>T	CCDS53885.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-18.247320	1	0.170000	NM_020920			11	11		87	86	0		1	1		0	0	25	0		9.985771e-01	9.997663e-01	0	41	0	89	0	11	87
CHD8	57680	broad.mit.edu	37	14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000557364.1	-	30	5493	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1744					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)			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)		GCTGTTAGGGCAGAGCCCGGA	0.522																																						ENST00000557364.1	1.000000	0.560000	1	7.500000e-01	0.980000	0.906780	0.980000	1.000000																										0				85						c.(5230-5232)Gcc>Acc		chromodomain helicase DNA binding protein 8							37.0	36.0	36.0					14																	21863231		1916	4130	6046	SO:0001583	missense	57680	0	0					g.chr14:21863231C>T	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.5230G>A	chr14.hg19:g.21863231C>T	ENSP00000451601:p.Ala1744Thr	0					SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR	p.A1744T			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	30	5493	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	1	1	hg19	c.5230G>A	CCDS53885.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432580	0.62844	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79554	-1.28;-1.28;-1.28	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.059716	0.64402	D	0.000002	T	0.76716	0.4026	L	0.39020	1.185	0.50467	D	0.99987	B	0.32128	0.357	B	0.36186	0.219	T	0.71224	-0.4656	10	0.25751	T	0.34	-17.1232	19.4308	0.94765	0.0:1.0:0.0:0.0	.	1465	Q9HCK8-2	.	T	1465;1744;1464;1744	ENSP00000406288:A1465T;ENSP00000382863:A1744T;ENSP00000451601:A1744T	ENSP00000262707:A1464T	A	-	1	0	0	CHD8	20933071	20933071	0.762000	0.28451	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.885000	0.99019	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-18.537990	1	0.170000	NM_020920			13	13		141	139	0		1	1		0	0	51	0		9.995736e-01	9.986706e-01	0	7	0	120	0	13	141
CHD8	57680	broad.mit.edu	37	14	21868399	21868399	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000557364.1	-	24	4901	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Silent_p.I1546I|CHD8_ENST00000430710.3_Silent_p.I1267I|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1546					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)			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)		CTGCCTTATGGATATCAAAAG	0.403																																						ENST00000557364.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(4636-4638)atC>atT		chromodomain helicase DNA binding protein 8							136.0	125.0	128.0					14																	21868399		1847	4096	5943	SO:0001819	synonymous_variant	57680	0	0					g.chr14:21868399G>A	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.4638C>T	chr14.hg19:g.21868399G>A		0					CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000399982.2_Silent_p.I1546I|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR	p.I1546I			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	24	4901	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	1	1	hg19	c.4638C>T	CCDS53885.1	1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063266	0.08388	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	2.41	0.29592	5.21	2.41	0.29592	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	-9.7636	4.8474	0.13521	0.1622:0.0:0.5391:0.2987	.	.	.	.	S	780	.	.	P	-	1	0	0	CHD8	20938239	20938239	0.028000	0.19301	1.000000	0.80357	0.921000	0.55340	-0.831000	0.04405	0.353000	0.24079	-0.745000	0.03516	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	52		52	53	1	2.060000	-20.000000	1	0.170000	NM_020920			67	67		252	246	1		1	1		0	0	52	0		1	1	0	14	0	91	0	67	252
CHD8	57680	broad.mit.edu	37	14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000557364.1	-	22	4548	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1429					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)			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)		GAGCGTGGCCGCTCATCATCC	0.498																																						ENST00000557364.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(4285-4287)Cgg>Tgg		chromodomain helicase DNA binding protein 8							129.0	126.0	127.0					14																	21869119		1988	4168	6156	SO:0001583	missense	57680	2	120918	33				g.chr14:21869119G>A	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.4285C>T	chr14.hg19:g.21869119G>A	ENSP00000451601:p.Arg1429Trp	0					CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W|CHD8_ENST00000555962.1_Intron	p.R1429W			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	22	4548	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	1	1	hg19	c.4285C>T	CCDS53885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.915889|2.915889	0.52546|0.52546	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.86097	.|-2.07;-2.07;-2.07	5.04|5.04	4.13|4.13	0.48395|0.48395	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.076903	.|0.56097	.|D	.|0.000033	D|D	0.85708|0.85708	0.5759|0.5759	N|N	0.22421|0.22421	0.69|0.69	0.48975|0.48975	D|D	0.999736|0.999736	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.71184	.|0.872;0.972	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.87932	.|D	.|0	-12.8282|-12.8282	11.6568|11.6568	0.51324|0.51324	0.0:0.0:0.6781:0.3219|0.0:0.0:0.6781:0.3219	.|.	.|1429;1150	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|W	654|1150;1429;1149;1429	.|ENSP00000406288:R1150W;ENSP00000382863:R1429W;ENSP00000451601:R1429W	.|ENSP00000262707:R1149W	A|R	-|-	2|1	0|2	0|2	CHD8|CHD8	20938959|20938959	20938959|20938959	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.670000|0.670000	0.39368|0.39368	3.463000|3.463000	0.53050|0.53050	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCG|CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.534421	1	0.170000	NM_020920			72	72		281	277	1		1	1		0	0	61	0		1	9.999996e-01	0	15	0	71	0	72	281
CHD8	57680	broad.mit.edu	37	14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000557364.1	-	5	1875	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	538					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)			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)		CCCACTACAGGAGTGATGGTG	0.353																																						ENST00000557364.1	1.000000	0.560000	1	8.200000e-01	0.990000	0.937842	0.990000	1.000000																										0				85						c.(1612-1614)Cct>Tct		chromodomain helicase DNA binding protein 8							85.0	72.0	76.0					14																	21894391		1856	4105	5961	SO:0001583	missense	57680	0	0					g.chr14:21894391G>A	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.1612C>T	chr14.hg19:g.21894391G>A	ENSP00000451601:p.Pro538Ser	0					CHD8_ENST00000399982.2_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000555962.1_Intron	p.P538S			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	5	1875	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	0	1	hg19	c.1612C>T	CCDS53885.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874985	0.51695	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88818	-2.4;-2.43;-2.43	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.060955	0.64402	D	0.000002	D	0.86322	0.5905	N	0.19112	0.55	0.50632	D	0.999885	P	0.50443	0.935	P	0.52881	0.712	T	0.82647	-0.0354	10	0.10636	T	0.68	-11.8128	18.349	0.90331	0.0:0.0:1.0:0.0	.	259	Q9HCK8-2	.	S	259;538;258;538	ENSP00000406288:P259S;ENSP00000382863:P538S;ENSP00000451601:P538S	ENSP00000262707:P258S	P	-	1	0	0	CHD8	20964231	20964231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-14.090450	1	0.170000	NM_020920			8	8		72	72	0		1	1		0	0	9	0		9.906174e-01	9.698937e-01	0	25	0	34	0	8	72
CHD8	57680	broad.mit.edu	37	14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000557364.1	-	2	898	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	212					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)			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)		AACACCTGGTCGAAGGGGTGT	0.572																																						ENST00000557364.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999049	0.990000	1.000000																										0				85						c.(634-636)cGa>cAa		chromodomain helicase DNA binding protein 8							45.0	41.0	42.0					14																	21899168		1568	3582	5150	SO:0001583	missense	57680	3	119012	31				g.chr14:21899168C>T	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.635G>A	chr14.hg19:g.21899168C>T	ENSP00000451601:p.Arg212Gln	0					CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA	p.R212Q			0	1	1	1.986586	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	2	898	-	all_cancers(95;0.00121)		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	1	1	hg19	c.635G>A	CCDS53885.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315742	0.81469	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.90004	-2.6;-2.6	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.150379	0.28230	U	0.016120	D	0.85915	0.5808	N	0.24115	0.695	0.36061	D	0.841445	.	.	.	.	.	.	D	0.83981	0.0332	8	0.13470	T	0.59	-4.9624	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	Q	212	ENSP00000382863:R212Q;ENSP00000451601:R212Q	ENSP00000382863:R212Q	R	-	2	0	0	CHD8	20969008	20969008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.901000	0.63259	2.775000	0.95449	0.585000	0.79938	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_020920			21	21		125	123	1		1	1		0	0	33	0		9.999984e-01	9.575894e-01	0	9	0	25	0	21	125
RAB2B	84932	broad.mit.edu	37	14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	141					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(421-423)Cat>Tat		RAB2B, member RAS oncogene family							153.0	141.0	145.0					14																	21931868		2203	4300	6503	SO:0001583	missense	84932	0	0					g.chr14:21931868G>A	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.421C>T	chr14.hg19:g.21931868G>A	ENSP00000380869:p.His141Tyr	0					RAB2B_ENST00000461909.1_5'UTR	p.H141Y	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	0	1	1	1.986586	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	6	521	-	all_cancers(95;0.000858)		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	1	1	hg19	c.421C>T	CCDS9570.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.131159	0.94473	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	6.01	6.01	0.97437	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	N	0.25825	0.765	0.80722	D	1	B;B;P	0.39311	0.075;0.408;0.667	B;B;B	0.38056	0.19;0.264;0.258	T	0.77133	-0.2700	10	0.87932	D	0	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	141;95;76	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	Y	141	ENSP00000380869:H141Y	ENSP00000302005:H141Y	H	-	1	0	0	RAB2B	21001708	21001708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.113000	0.94321	2.850000	0.98022	0.655000	0.94253	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000				90	89		370	363	1		1	1		0	0	86	0		1	9.999895e-01	0	15	0	55	0	90	370
TOX4	9878	broad.mit.edu	37	14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	453	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567																																						ENST00000405508.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1357-1359)caG>caT		TOX high mobility group box family member 4							95.0	88.0	90.0					14																	21961134		2203	4300	6503	SO:0001583	missense	9878	0	0					g.chr14:21961134G>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1359G>T	chr14.hg19:g.21961134G>T	ENSP00000385102:p.Gln453His	0					TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H|TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H	p.Q453H			0	1	1	1.986586	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	8	1635	+	all_cancers(95;0.000465)		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	1	1	hg19	c.1359G>T	CCDS32043.1	1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069594	0.20147	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15139	2.45;2.45;2.47	4.96	1.09	0.20402	4.96	1.09	0.20402	.	0.672239	0.14521	N	0.314432	T	0.11495	0.0280	N	0.08118	0	0.37097	D	0.899727	D;D	0.56521	0.976;0.976	P;P	0.47528	0.549;0.549	T	0.22871	-1.0204	10	0.38643	T	0.18	.	12.175	0.54180	0.2895:0.0:0.7105:0.0	.	430;453	B4DPY8;O94842	.;TOX4_HUMAN	H	453;453;430;381	ENSP00000385102:Q453H;ENSP00000262709:Q453H;ENSP00000393080:Q430H	ENSP00000262709:Q453H	Q	+	3	2	2	TOX4	21030974	21030974	0.998000	0.40836	0.999000	0.59377	0.154000	0.21943	0.605000	0.24179	0.106000	0.17784	-1.644000	0.00765	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	0	0	1		2	2	2	0		0	0	238		238	235	1	2.060000	-20.000000	1	0.170000	NM_014828			171	163		777	753	1		1	1		0	0	238	0		1	1	0	118	0	251	0	171	777
TOX4	9878	broad.mit.edu	37	14	21964723	21964723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21964723G>A	ENST00000405508.1	+	10	2101	c.1825G>A	c.(1825-1827)Gta>Ata	p.V609I	TOX4_ENST00000262709.3_Missense_Mutation_p.V609I|TOX4_ENST00000448790.2_Missense_Mutation_p.V586I			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	609						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTTGGCCTGGGTAGCCTCTAG	0.388																																						ENST00000405508.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1825-1827)Gta>Ata		TOX high mobility group box family member 4							154.0	142.0	146.0					14																	21964723		2203	4300	6503	SO:0001583	missense	9878	0	0					g.chr14:21964723G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1825G>A	chr14.hg19:g.21964723G>A	ENSP00000385102:p.Val609Ile	0					TOX4_ENST00000448790.2_Missense_Mutation_p.V586I|TOX4_ENST00000262709.3_Missense_Mutation_p.V609I	p.V609I			0	1	1	1.986586	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	10	2101	+	all_cancers(95;0.000465)		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	1	0	hg19	c.1825G>A	CCDS32043.1	1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977518	0.18812	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14766	2.48;2.48;2.48	5.01	4.11	0.48088	5.01	4.11	0.48088	.	0.304156	0.31809	N	0.007021	T	0.10551	0.0258	L	0.34521	1.04	0.29776	N	0.834394	B;B	0.20459	0.045;0.045	B;B	0.21360	0.034;0.034	T	0.07195	-1.0785	10	0.40728	T	0.16	.	8.5995	0.33736	0.0:0.1674:0.6592:0.1734	.	586;609	B4DPY8;O94842	.;TOX4_HUMAN	I	609;609;586;537	ENSP00000385102:V609I;ENSP00000262709:V609I;ENSP00000393080:V586I	ENSP00000262709:V609I	V	+	1	0	0	TOX4	21034563	21034563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.104000	0.41815	1.447000	0.47661	0.650000	0.86243	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	1	0	1		2	2	2	0		0	0	66		66	67	1	2.060000	-1.481256	0	0.170000	NM_014828			79	75		334	325	1		1	1		0	0	66	0		1	1	0	82	0	173	0	79	334
METTL3	56339	broad.mit.edu	37	14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	191					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)			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)		TAACGAACTGGCAAAGGCAGC	0.547																																						ENST00000298717.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(571-573)gCc>gTc		methyltransferase like 3							111.0	90.0	97.0					14																	21971467		2203	4300	6503	SO:0001583	missense	56339	0	0					g.chr14:21971467G>A	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.572C>T	chr14.hg19:g.21971467G>A	ENSP00000298717:p.Ala191Val	0					METTL3_ENST00000538267.1_Intron	p.A191V	NM_019852.3	NP_062826.2	0	1	1	1.986586	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	3	723	-	all_cancers(95;0.000628)		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	1	1	hg19	c.572C>T	CCDS32044.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688699	0.29962	.	.	ENSG00000165819	ENST00000298717	T	0.31247	1.5	5.36	4.48	0.54585	5.36	4.48	0.54585	.	0.495398	0.23868	N	0.043762	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.21546	0.006;0.035;0.002	T	0.08827	-1.0703	10	0.12103	T	0.63	.	9.3888	0.38361	0.163:0.0:0.837:0.0	.	191;191;191	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	191	ENSP00000298717:A191V	ENSP00000298717:A191V	A	-	2	0	0	METTL3	21041307	21041307	1.000000	0.71417	0.980000	0.43619	0.667000	0.39255	7.944000	0.87722	1.511000	0.48818	-0.251000	0.11542	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_019852			62	61		278	271	1		1	1		0	0	63	0		1	9.994828e-01	0	15	0	38	0	62	278
SALL2	6297	broad.mit.edu	37	14	21991201	21991201	+	Silent	SNP	G	G	A	rs199822625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	887					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19198	0.001		0.0	False		,,,				2504	0.0					ENST00000327430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2659-2661)agC>agT		spalt-like transcription factor 2							63.0	58.0	60.0					14																	21991201		2203	4300	6503	SO:0001819	synonymous_variant	6297	5	121412	37				g.chr14:21991201G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2661C>T	chr14.hg19:g.21991201G>A		0					AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S	p.S887S	NM_005407.1	NP_005398.1	0	1	1	1.986586	Q9Y467	SALL2_HUMAN		2	2955	-	all_cancers(95;0.000662)		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	1	1	hg19	c.2661C>T	CCDS32045.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.028	-1.352014	0.01256	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	2.79	0.32731	4.79	2.79	0.32731	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23254	N	0.998031	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-14.6793	5.2257	0.15393	0.1157:0.2131:0.6712:0.0	.	.	.	.	V	746	.	.	A	-	2	0	0	SALL2	21061041	21061041	0.007000	0.16637	0.593000	0.28771	0.007000	0.05969	-0.145000	0.10265	1.232000	0.43678	-0.257000	0.10917	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005407			67	64		225	219	1		1	0		0	0	51	0		1	6.466670e-01	0	1	0	8	0	67	225
SALL2	6297	broad.mit.edu	37	14	21993139	21993139	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602																																						ENST00000327430.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999401	0.990000	1.000000																										0				43						c.(721-723)ctC>ctA		spalt-like transcription factor 2							50.0	50.0	50.0					14																	21993139		2203	4300	6503	SO:0001819	synonymous_variant	6297	0	0					g.chr14:21993139G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.723C>A	chr14.hg19:g.21993139G>T		0					AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron	p.L241L	NM_005407.1	NP_005398.1	0	1	1	1.986586	Q9Y467	SALL2_HUMAN		2	1017	-	all_cancers(95;0.000662)		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	1	1	hg19	c.723C>A	CCDS32045.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	1	0	1		2	2	2	0		0	0	47		47	43	1	2.060000	-20.000000	1	0.170000	NM_005407			32	32		214	204	1		1	1		0	0	47	0		1	5.672141e-01	0	4	0	10	0	32	214
OR10G3	26533	broad.mit.edu	37	14	22038099	22038099	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582																																						ENST00000303532.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(775-777)atC>atT		olfactory receptor, family 10, subfamily G, member 3							81.0	85.0	83.0					14																	22038099		2203	4300	6503	SO:0001819	synonymous_variant	26533	1	121412	31				g.chr14:22038099G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.777C>T	chr14.hg19:g.22038099G>A		0						p.I259I	NM_001005465.1	NP_001005465.1	0	1	1	1.986586	Q8NGC4	O10G3_HUMAN		1	776	-	all_cancers(95;0.000987)		Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	1	1	hg19	c.777C>T	CCDS32046.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-3.365836	1	0.170000				110	109		504	491	0		1			0	0	107	0		1	0	0	0	0	0	0	110	504
OR10G2	26534	broad.mit.edu	37	14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(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)		TCCAGCCACAAGGACTGTGCA	0.557																																						ENST00000542433.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				22						c.(445-447)cTt>cGt		olfactory receptor, family 10, subfamily G, member 2							35.0	40.0	38.0					14																	22102553		2202	4298	6500	SO:0001583	missense	26534	0	0					g.chr14:22102553A>C		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.446T>G	chr14.hg19:g.22102553A>C	ENSP00000445383:p.Leu149Arg	0						p.L149R	NM_001005466.1	NP_001005466.1	0	1	1	1.986586	Q8NGC3	O10G2_HUMAN		1	543	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	1	1	hg19	c.446T>G	CCDS32047.1	1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693504	0.48202	.	.	ENSG00000255582	ENST00000542433	T	0.44881	0.91	3.64	3.64	0.41730	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001617	T	0.70962	0.3284	H	0.95260	3.645	0.28420	N	0.917786	D	0.71674	0.998	D	0.72982	0.979	T	0.69397	-0.5156	10	0.87932	D	0	-7.5525	10.2529	0.43379	1.0:0.0:0.0:0.0	.	149	Q8NGC3	O10G2_HUMAN	R	149	ENSP00000445383:L149R	ENSP00000445383:L149R	L	-	2	0	0	OR10G2	21172393	21172393	0.325000	0.24660	0.998000	0.56505	0.961000	0.63080	3.861000	0.56002	1.525000	0.49052	0.374000	0.22700	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1	1	0	1		2	2	2	0		0	0	25		25	35	1	2.060000	-20.000000	1	0.170000				29	24		127	105	0		1			0	0	25	0		9.999999e-01	0	0	0	0	0	0	29	127
SLC7A7	9056	broad.mit.edu	37	14	23243280	23243280	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	431					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493																																						ENST00000397532.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1291-1293)Ctg>Ttg		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							131.0	128.0	129.0					14																	23243280		2203	4300	6503	SO:0001819	synonymous_variant	9056	0	0					g.chr14:23243280G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1291C>T	chr14.hg19:g.23243280G>A		0					SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000554061.1_5'UTR	p.L431L			0	1	1	1.986586	Q9UM01	YLAT1_HUMAN		9	1816	-	all_cancers(95;8.44e-05)		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	1	1	hg19	c.1291C>T	CCDS9574.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000				54	53		291	281	1		1	1		0	0	96	0		1	1	0	11	0	217	0	54	291
SLC7A7	9056	broad.mit.edu	37	14	23282281	23282281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	109					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552																																						ENST00000397532.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(325-327)gaG>gaA		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							124.0	126.0	126.0					14																	23282281		2203	4300	6503	SO:0001819	synonymous_variant	9056	0	0					g.chr14:23282281C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.327G>A	chr14.hg19:g.23282281C>T		0					SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron	p.E109E			0	1	1	1.986586	Q9UM01	YLAT1_HUMAN		2	852	-	all_cancers(95;8.44e-05)		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	1	1	hg19	c.327G>A	CCDS9574.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-20.000000	1	0.170000				138	135		599	585	1		1	1		0	0	160	0		1	1	0	38	0	164	0	138	599
SLC7A7	9056	broad.mit.edu	37	14	23282626	23282626	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282626C>A	ENST00000397532.3	-	0	507				SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAGGAAACCCTTCACCAGCT	0.542																																						ENST00000397532.3	0.730000	0.220000	5.800000e-01	3.100000e-01	0.430000	0.455113	0.430000	0.410000																										0				20								solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							42.0	37.0	39.0					14																	23282626		2147	4202	6349			9056	0	0					g.chr14:23282626C>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.-19G>T	chr14.hg19:g.23282626C>A		0					SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron				0	1	1	1.986586	Q9UM01	YLAT1_HUMAN		0	507	-	all_cancers(95;8.44e-05)		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Translation_Start_Site	SNP	ENST00000397532.3	0	1	hg19		CCDS9574.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-2.848933	1	0.170000				10	10		266	262	0		1	1		0	0	70	0		9.967980e-01	9.757492e-01	0	3	0	168	0	10	266
MMP14	4323	broad.mit.edu	37	14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	11					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCCCCGTTGTCTCCTGCTCCC	0.726											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(31-33)Ctc>Atc		matrix metallopeptidase 14 (membrane-inserted)	Marimastat(DB00786)						30.0	25.0	27.0					14																	23306057		2203	4298	6501	SO:0001583	missense	4323	0	0					g.chr14:23306057C>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.31C>A	chr14.hg19:g.23306057C>A	ENSP00000308208:p.Leu11Ile	0		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L11I	NM_004995.2	NP_004986.1	0	1	1	1.986586	P50281	MMP14_HUMAN		1	292	+	all_cancers(95;9.47e-05)		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	1	1	hg19	c.31C>A	CCDS9577.1	1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604229	0.46423	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.59224	2.4;0.28	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.533597	0.20310	N	0.094848	T	0.37517	0.1006	N	0.08118	0	0.31485	N	0.666702	B	0.24823	0.112	B	0.23018	0.043	T	0.42310	-0.9459	10	0.40728	T	0.16	.	13.4433	0.61125	0.0:1.0:0.0:0.0	.	11	P50281	MMP14_HUMAN	I	11	ENSP00000308208:L11I;ENSP00000450323:L11I	ENSP00000308208:L11I	L	+	1	0	0	MMP14	22375897	22375897	0.813000	0.29090	0.998000	0.56505	0.991000	0.79684	1.956000	0.40382	2.630000	0.89119	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	0		2	2	2	0		0	0	38		38	36	1	2.060000	-20.000000	1	0.170000	NM_004995			45	45		146	143	1		1	1		0	0	38	0		1	1	0	65	0	618	0	45	146
MMP14	4323	broad.mit.edu	37	14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCTGCTCACGCTCGGCACCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6	1.000000	0.820000	1	9.900000e-01	0.990000	0.986123	0.990000	1.000000																										0				20						c.(52-54)Ctc>Ttc		matrix metallopeptidase 14 (membrane-inserted)	Marimastat(DB00786)						29.0	24.0	26.0					14																	23306078		2203	4298	6501	SO:0001583	missense	4323	0	0					g.chr14:23306078C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.52C>T	chr14.hg19:g.23306078C>T	ENSP00000308208:p.Leu18Phe	0		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L18F	NM_004995.2	NP_004986.1	0	1	1	1.986586	P50281	MMP14_HUMAN		1	313	+	all_cancers(95;9.47e-05)		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	1	1	hg19	c.52C>T	CCDS9577.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378692	0.42207	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.63417	2.34;-0.04	4.55	4.55	0.56014	4.55	4.55	0.56014	.	2.767510	0.01059	N	0.004607	T	0.60483	0.2272	N	0.08118	0	0.33990	D	0.649053	D	0.58970	0.984	P	0.59595	0.86	T	0.59511	-0.7441	10	0.09590	T	0.72	.	13.0028	0.58685	0.0:1.0:0.0:0.0	.	18	P50281	MMP14_HUMAN	F	18	ENSP00000308208:L18F;ENSP00000450323:L18F	ENSP00000308208:L18F	L	+	1	0	0	MMP14	22375918	22375918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.020000	0.49643	2.524000	0.85096	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	0		2	2	2	0		0	0	41		41	39	1	2.060000	-20.000000	1	0.170000	NM_004995			23	23		193	190	1		1	1		0	0	41	0		9.999995e-01	1	0	34	0	846	0	23	193
MMP14	4323	broad.mit.edu	37	14	23311685	23311685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	149					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGGCGTTCCGCGTGTGGGAGA	0.607																																						ENST00000311852.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				20						c.(445-447)cgC>cgT		matrix metallopeptidase 14 (membrane-inserted)	Marimastat(DB00786)						79.0	55.0	63.0					14																	23311685		2203	4300	6503	SO:0001819	synonymous_variant	4323	1	121412	26				g.chr14:23311685C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.447C>T	chr14.hg19:g.23311685C>T		0					MMP14_ENST00000548162.1_3'UTR	p.R149R	NM_004995.2	NP_004986.1	0	1	1	1.986586	P50281	MMP14_HUMAN		4	708	+	all_cancers(95;9.47e-05)		A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	1	1	hg19	c.447C>T	CCDS9577.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_004995			26	26		134	129	1		1	1		0	0	33	0		9.999999e-01	1	0	91	0	1173	0	26	134
LRP10	26020	broad.mit.edu	37	14	23345402	23345402	+	Silent	SNP	G	G	A	rs372856009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	415	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)		TGTATGAGACGTGGGTGTGCG	0.572																																						ENST00000359591.4	0.760000	0.390000	6.600000e-01	4.700000e-01	0.560000	0.573405	0.560000	0.550000																										0				32						c.(1243-1245)acG>acA		low density lipoprotein receptor-related protein 10		A		0,4406		0,0,2203	214.0	194.0	201.0		1245	-11.9	0.2	14		201	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	LRP10	NM_014045.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		415/714	23345402	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26020	2	121412	39				g.chr14:23345402G>A	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.1245G>A	chr14.hg19:g.23345402G>A		0					LRP10_ENST00000546834.1_Silent_p.T415T	p.T415T	NM_014045.3	NP_054764.2	0	1	1	1.986586	Q7Z4F1	LRP10_HUMAN		5	1936	+	all_cancers(95;4.69e-05)		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	1	1	hg19	c.1245G>A	CCDS9578.1	0	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205658	0.09704	0.0	1.16E-4	ENSG00000197324	ENST00000551466	.	.	.	5.97	-11.9	0.00025	5.97	-11.9	0.00025	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-8.3507	5.5399	0.17031	0.4097:0.2297:0.2983:0.0623	.	.	.	.	M	317	.	.	V	+	1	0	0	LRP10	22415242	22415242	0.000000	0.05858	0.232000	0.24009	0.871000	0.50021	-4.299000	0.00257	-2.310000	0.00650	-2.160000	0.00327	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3	1	0	1		18	33	2	1		1	1	134		134	134	1	2.060000	-3.315509	1	0.170000				34	34		674	661	0		1	1		1	0	134	0		9.905411e-01	9.995793e-01	0	123	0	1377	0	34	674
REM2	161253	broad.mit.edu	37	14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000267396.4	+	2	280	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000536884.1_Missense_Mutation_p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	53					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547																																						ENST00000267396.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(157-159)Cgg>Tgg		RAS (RAD and GEM)-like GTP binding 2							47.0	50.0	49.0					14																	23353936		1937	4131	6068	SO:0001583	missense	161253	4	120884	36				g.chr14:23353936C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.157C>T	chr14.hg19:g.23353936C>T	ENSP00000267396:p.Arg53Trp	0					REM2_ENST00000536884.1_Missense_Mutation_p.R53W	p.R53W	NM_173527.2	NP_775798.2	0	1	1	1.986586	Q8IYK8	REM2_HUMAN		2	280	+	all_cancers(95;4.69e-05)		B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	1	1	hg19	c.157C>T	CCDS45082.1	1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028516	0.35797	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.21	5.82	3.98	0.46160	5.82	3.98	0.46160	.	0.626172	0.16062	N	0.231414	T	0.51550	0.1681	N	0.19112	0.55	0.29543	N	0.851932	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.52102	-0.8620	10	0.87932	D	0	.	10.6536	0.45663	0.1317:0.7978:0.0:0.0705	.	53;53	B7Z5P1;Q8IYK8	.;REM2_HUMAN	W	53	ENSP00000267396:R53W;ENSP00000442774:R53W	ENSP00000267396:R53W	R	+	1	2	2	REM2	22423776	22423776	0.197000	0.23362	0.944000	0.38274	0.268000	0.26511	0.611000	0.24268	0.785000	0.33685	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.049309	1	0.170000	NM_173527			56	55		259	256	1		1	1		0	0	46	0		1	3.279567e-02	0	2	0	0	0	56	259
REM2	161253	broad.mit.edu	37	14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000267396.4	+	2	392	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000536884.1_Missense_Mutation_p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	90					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632																																						ENST00000267396.4	1.000000	0.800000	1	9.600000e-01	0.990000	0.980444	0.990000	1.000000																										0				5						c.(268-270)cCt>cTt		RAS (RAD and GEM)-like GTP binding 2							39.0	44.0	42.0					14																	23354048		2177	4273	6450	SO:0001583	missense	161253	0	0					g.chr14:23354048C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.269C>T	chr14.hg19:g.23354048C>T	ENSP00000267396:p.Pro90Leu	0					REM2_ENST00000536884.1_Missense_Mutation_p.P90L	p.P90L	NM_173527.2	NP_775798.2	0	1	1	1.986586	Q8IYK8	REM2_HUMAN		2	392	+	all_cancers(95;4.69e-05)		B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	1	1	hg19	c.269C>T	CCDS45082.1	1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508339	0.64410	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68181	-0.31;1.21	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.213901	0.39909	N	0.001222	T	0.64461	0.2600	L	0.29908	0.895	0.58432	D	0.999997	P;B	0.45827	0.867;0.164	P;B	0.48030	0.564;0.06	T	0.65240	-0.6216	10	0.49607	T	0.09	.	17.1447	0.86763	0.0:1.0:0.0:0.0	.	90;90	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	90	ENSP00000267396:P90L;ENSP00000442774:P90L	ENSP00000267396:P90L	P	+	2	0	0	REM2	22423888	22423888	0.085000	0.21516	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	2.778000	0.95560	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_173527			32	32		295	292	0		1	0		0	0	64	0		1	1.033435e-02	0	0	0	2	0	32	295
RBM23	55147	broad.mit.edu	37	14	23375564	23375564	+	Missense_Mutation	SNP	G	G	A	rs72681969	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23375564G>A	ENST00000359890.3	-	5	436	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	RBM23_ENST00000346528.5_Missense_Mutation_p.R65W|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R65W	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	81	Arg-rich.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCGATCCCGATCTCGACTA	0.512													G|||	72	0.014377	0.003	0.0259	5008	,	,		21445	0.0		0.0437	False		,,,				2504	0.0061					ENST00000359890.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994438	0.990000	1.000000																										0				10						c.(241-243)Cgg>Tgg		RNA binding motif protein 23		G	TRP/ARG,TRP/ARG,TRP/ARG	44,4080		1,42,2019	70.0	70.0	70.0		241,193,193	4.8	1.0	14	dbSNP_130	70	317,8085		7,303,3891	yes	missense,missense,missense	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	101,101,101	8,345,5910	AA,AG,GG		3.7729,1.0669,2.882	probably-damaging,probably-damaging,probably-damaging	81/440,65/406,65/424	23375564	361,12165	2062	4201	6263	SO:0001583	missense	55147	3391	120970	67				g.chr14:23375564G>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.241C>T	chr14.hg19:g.23375564G>A	ENSP00000352956:p.Arg81Trp	0					RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R65W|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R65W	p.R81W	NM_001077351.1	NP_001070819.1	0	1	1	1.986586	Q86U06	RBM23_HUMAN		5	436	-	all_cancers(95;4.69e-05)		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	1	0	hg19	c.241C>T	CCDS41921.1	1	44	0.020146520146520148	3	0.006097560975609756	8	0.022099447513812154	0	0.0	33	0.04353562005277045	G	21.6	4.170582	0.78452	0.010669	0.037729	ENSG00000100461	ENST00000359890;ENST00000399922;ENST00000346528;ENST00000554256;ENST00000557549;ENST00000555676;ENST00000557571;ENST00000556862;ENST00000557464	T;T;T	0.79940	-1.32;3.27;3.34	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.213810	0.30302	N	0.009932	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	P;P;P;P	0.59643	0.861;0.738;0.738;0.551	T	0.76686	-0.2868	10	0.87932	D	0	-6.2082	15.1845	0.72989	0.0:0.0:1.0:0.0	.	81;65;65;81	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	W	81;65;65;81;65;65;65;81;65	ENSP00000352956:R81W;ENSP00000382806:R65W;ENSP00000339220:R65W	ENSP00000305783:R81W	R	-	1	2	2	RBM23	22445404	22445404	0.988000	0.35896	0.978000	0.43139	0.610000	0.37248	2.301000	0.43628	2.398000	0.81561	0.561000	0.74099	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.966416	1	0.170000				35	35		288	278	1		1	1		0	0	66	0		1	1	0	43	0	250	0	35	288
PSMB5	5693	broad.mit.edu	37	14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000361611.6	-	2	585	c.322G>A	c.(322-324)Gca>Aca	p.A108T	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000460922.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	108					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)|response to oxidative stress (GO:0006979)|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)	threonine-type endopeptidase activity (GO:0004298)	p.A108T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CAATCCGCTGCGCCCCCAGCC	0.552																																						ENST00000361611.6	1.000000	0.960000	1	9.900000e-01	0.990000	0.997672	0.990000	1.000000																										1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	7						c.(322-324)Gca>Aca		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)|Carfilzomib(DB08889)						67.0	63.0	65.0					14																	23502760		2203	4300	6503	SO:0001583	missense	5693	0	0					g.chr14:23502760C>T	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.322G>A	chr14.hg19:g.23502760C>T	ENSP00000355325:p.Ala108Thr	0					PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|AL132780.1_ENST00000385031.1_RNA	p.A108T	NM_002797.3	NP_002788.1	0	1	1	1.986586	P28074	PSB5_HUMAN		2	585	-	all_cancers(95;3.3e-05)		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	1	1	hg19	c.322G>A	CCDS9584.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749066	0.89753	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762	T;T;T	0.36699	1.24;1.24;1.24	4.88	4.88	0.63580	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.99590	4.645	0.80722	D	1	P;D	0.76494	0.92;0.999	B;P	0.62014	0.109;0.897	D	0.87643	0.2523	10	0.87932	D	0	-1.9348	16.8115	0.85722	0.0:1.0:0.0:0.0	.	108;108	P28074-2;P28074	.;PSB5_HUMAN	T	108;108;5	ENSP00000355325:A108T;ENSP00000452424:A108T;ENSP00000395206:A5T	ENSP00000334973:A108T	A	-	1	0	0	PSMB5	22572600	22572600	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.476000	0.60216	2.237000	0.73441	0.561000	0.74099	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_002797			37	37		286	273	1		1	1		0	0	67	0		1	1	0	288	0	577	0	37	286
PSMB5	5693	broad.mit.edu	37	14	23504175	23504175	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23504175C>A	ENST00000361611.6	-	0	179				AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_5'Flank|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_5'Flank	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5						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)|response to oxidative stress (GO:0006979)|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)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GCTTCACTTCCTATTAAATCT	0.522																																						ENST00000361611.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999649	0.990000	1.000000																										0				7								proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)|Carfilzomib(DB08889)																																					5693	0	0					g.chr14:23504175C>A	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.-85G>T	chr14.hg19:g.23504175C>A		0					PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_5'Flank|PSMB5_ENST00000493471.2_5'Flank|AL132780.1_ENST00000385031.1_RNA		NM_002797.3	NP_002788.1	0	1	1	1.986586	P28074	PSB5_HUMAN		0	179	-	all_cancers(95;3.3e-05)		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Translation_Start_Site	SNP	ENST00000361611.6	0	1	hg19		CCDS9584.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_002797			11	11		28	28	0		1	1		0	0	10	0		9.991288e-01	3.377581e-01	0	3	0	1	0	11	28
ACIN1	22985	broad.mit.edu	37	14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3865-3867)aGg>aTg		apoptotic chromatin condensation inducer 1							106.0	82.0	90.0					14																	23528517		2203	4300	6503	SO:0001583	missense	22985	0	0					g.chr14:23528517C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3866G>T	chr14.hg19:g.23528517C>A	ENSP00000262710:p.Arg1289Met	0		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M	p.R1289M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	0	1	1	1.986586	Q9UKV3	ACINU_HUMAN		19	4193	-	all_cancers(95;1.36e-05)		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	1	1	hg19	c.3866G>T	CCDS9587.1	1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042506	0.55003	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.000000	0.37483	N	0.002076	T	0.63558	0.2521	N	0.24115	0.695	0.45161	D	0.998177	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.982;0.982	D;D;D;P;P	0.74348	0.983;0.962;0.962;0.629;0.629	T	0.69057	-0.5246	10	0.72032	D	0.01	-8.6477	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1276;1289;1249;562;531	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	530;562;531;1289;1249;531;1276	ENSP00000451138:R530M;ENSP00000345541:R562M;ENSP00000350073:R531M;ENSP00000262710:R1289M;ENSP00000405677:R1249M;ENSP00000380502:R531M;ENSP00000451328:R1276M	ENSP00000262710:R1289M	R	-	2	0	0	ACIN1	22598357	22598357	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.905000	0.39878	2.379000	0.81126	0.563000	0.77884	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_014977			60	59		248	234	1		1	1		0	0	46	0		1	1	0	91	0	124	0	60	248
ACIN1	22985	broad.mit.edu	37	14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3811-3813)Cgg>Tgg		apoptotic chromatin condensation inducer 1							114.0	91.0	99.0					14																	23528572		2203	4300	6503	SO:0001583	missense	22985	0	0					g.chr14:23528572G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3811C>T	chr14.hg19:g.23528572G>A	ENSP00000262710:p.Arg1271Trp	0		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W	p.R1271W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	0	1	1	1.986586	Q9UKV3	ACINU_HUMAN		19	4138	-	all_cancers(95;1.36e-05)		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	1	1	hg19	c.3811C>T	CCDS9587.1	1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608797	0.28623	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.14	3.24	0.37175	4.14	3.24	0.37175	.	0.000000	0.37393	N	0.002103	T	0.42675	0.1213	N	0.24115	0.695	0.42351	D	0.992378	D;D;D;P;P	0.64830	0.994;0.99;0.975;0.912;0.912	P;B;B;B;B	0.47102	0.537;0.336;0.336;0.082;0.082	T	0.46498	-0.9187	10	0.87932	D	0	-8.9988	10.8207	0.46604	0.0:0.0:0.8102:0.1898	.	1258;1271;1231;544;513	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	512;544;513;1271;1231;513;1258	ENSP00000451138:R512W;ENSP00000345541:R544W;ENSP00000350073:R513W;ENSP00000262710:R1271W;ENSP00000405677:R1231W;ENSP00000380502:R513W;ENSP00000451328:R1258W	ENSP00000262710:R1271W	R	-	1	2	2	ACIN1	22598412	22598412	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.283000	0.33237	1.074000	0.40909	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_014977			48	46		234	221	1		1	1		0	0	34	0		1	1	0	97	0	273	0	48	234
CEBPE	1053	broad.mit.edu	37	14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	101					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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(301-303)gCg>gTg		CCAAT/enhancer binding protein (C/EBP), epsilon							24.0	24.0	24.0					14																	23587999		2203	4299	6502	SO:0001583	missense	1053	1	121402	26				g.chr14:23587999G>A		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.302C>T	chr14.hg19:g.23587999G>A	ENSP00000206513:p.Ala101Val	0						p.A101V	NM_001805.3	NP_001796.2	0	1	1	1.986586	Q15744	CEBPE_HUMAN		1	826	-	all_cancers(95;4.6e-05)		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	1	1	hg19	c.302C>T	CCDS9589.1	1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	4.51	2.57	0.30868	4.51	2.57	0.30868	.	0.398028	0.23991	N	0.042566	T	0.13372	0.0324	N	0.08118	0	0.22253	N	0.999259	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	10	0.12766	T	0.61	-9.1206	9.9605	0.41693	0.0907:0.1529:0.7564:0.0	.	101	Q15744	CEBPE_HUMAN	V	101	ENSP00000206513:A101V	ENSP00000206513:A101V	A	-	2	0	0	CEBPE	22657839	22657839	0.999000	0.42202	0.806000	0.32338	0.994000	0.84299	2.808000	0.47963	1.094000	0.41399	0.561000	0.74099	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_001805			38	36		172	170	1		1	0		0	0	27	0		1	0	0	0	0	1	0	38	172
SLC7A8	23428	broad.mit.edu	37	14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000316902.7	-	5	1384	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					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)			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)	AAATGCATTCTTTGGCTCCAG	0.567																																						ENST00000316902.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(658-660)aAg>aCg		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						122.0	121.0	121.0					14																	23609809		2203	4300	6503	SO:0001583	missense	23428	0	0					g.chr14:23609809T>G	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.659A>C	chr14.hg19:g.23609809T>G	ENSP00000320378:p.Lys220Thr	0					SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T	p.K220T	NM_012244.3	NP_036376.2	0	1	1	1.986586	Q9UHI5	LAT2_HUMAN		5	1384	-	all_cancers(95;4.6e-05)		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	1	1	hg19	c.659A>C	CCDS9590.1	1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301603	0.40694	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89270	-2.49;-2.49;-2.22;-2.49	4.81	4.81	0.61882	4.81	4.81	0.61882	Amino acid permease domain (1);	0.116516	0.64402	D	0.000020	T	0.76227	0.3958	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.18263	0.021;0.006;0.005	T	0.71220	-0.4657	10	0.22706	T	0.39	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	115;220;220	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	T	220;17;220;17;115;17	ENSP00000320378:K220T;ENSP00000435114:K220T;ENSP00000391577:K17T;ENSP00000434345:K115T	ENSP00000206514:K17T	K	-	2	0	0	SLC7A8	22679649	22679649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.946000	0.56461	0.460000	0.39030	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3	0	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000				145	142		626	616	1		1	1		0	0	134	0		1	1	0	41	0	164	0	145	626
SLC22A17	51310	broad.mit.edu	37	14	23821156	23821156	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000206544.8	-	1	604		c.e1+1		SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCGCCTCACCTGGCCGATG	0.692																																						ENST00000206544.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.e1+1		solute carrier family 22, member 17							19.0	20.0	19.0					14																	23821156		2195	4291	6486	SO:0001630	splice_region_variant	51310	0	0					g.chr14:23821156C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.267+1G>A	chr14.hg19:g.23821156C>T		0					SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site		NM_020372.2	NP_065105.2	0	1	1	1.986586	Q8WUG5	S22AH_HUMAN		1	604	-	all_cancers(95;7.12e-06)		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	1	1	hg19		CCDS9593.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270684	0.59540	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	3.67	3.67	0.42095	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7391	0.46143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC22A17	22890996	22890996	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.987000	0.29603	1.867000	0.54127	0.462000	0.41574	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_020372	Intron		31	30		123	121	0		1			0	0	29	0		1	0	0	0	0	0	0	31	123
SLC22A17	51310	broad.mit.edu	37	14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000206544.8	-	1	493	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000354772.3_Missense_Mutation_p.T53A|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	53					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662																																						ENST00000206544.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				15						c.(157-159)Acc>Gcc		solute carrier family 22, member 17							25.0	21.0	23.0					14																	23821267		2198	4295	6493	SO:0001583	missense	51310	0	0					g.chr14:23821267T>C	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.157A>G	chr14.hg19:g.23821267T>C	ENSP00000206544:p.Thr53Ala	0					SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000354772.3_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR	p.T53A	NM_020372.2	NP_065105.2	0	1	1	1.986586	Q8WUG5	S22AH_HUMAN		1	493	-	all_cancers(95;7.12e-06)		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	0	1	hg19	c.157A>G	CCDS9593.1	1	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251576	0.10185	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.54675	0.56;0.56;0.56	2.86	2.86	0.33363	2.86	2.86	0.33363	Major facilitator superfamily domain (1);	0.421812	0.19588	U	0.110689	T	0.38746	0.1052	N	0.08118	0	0.29215	N	0.874315	D;P;P	0.56287	0.975;0.732;0.613	P;B;B	0.58130	0.833;0.124;0.058	T	0.22243	-1.0222	10	0.08179	T	0.78	-17.3251	7.5483	0.27781	0.0:0.0:0.0:1.0	.	53;53;53	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	A	53	ENSP00000346824:T53A;ENSP00000206544:T53A;ENSP00000380437:T53A	ENSP00000206544:T53A	T	-	1	0	0	SLC22A17	22891107	22891107	0.862000	0.29867	0.996000	0.52242	0.985000	0.73830	0.351000	0.20096	1.557000	0.49525	0.379000	0.24179	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	0		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_020372			22	18		83	77	0		1	0		0	0	9	0		9.999985e-01	7.873477e-01	0	0	0	13	0	22	83
SLC22A17	51310	broad.mit.edu	37	14	23821354	23821354	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	ENST00000206544.8	-	1	406	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_ENST00000354772.3_Missense_Mutation_p.A24T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	24					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCAGAGGCATTAGGGGGG	0.706																																						ENST00000206544.8	1.000000	0.530000	1	8.000000e-01	0.990000	0.931198	0.990000	1.000000																										0				15						c.(70-72)Gcc>Acc		solute carrier family 22, member 17							8.0	9.0	9.0					14																	23821354		2181	4246	6427	SO:0001583	missense	51310	0	0					g.chr14:23821354C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.70G>A	chr14.hg19:g.23821354C>T	ENSP00000206544:p.Ala24Thr	0					SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000354772.3_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR	p.A24T	NM_020372.2	NP_065105.2	0	1	1	1.986586	Q8WUG5	S22AH_HUMAN		1	406	-	all_cancers(95;7.12e-06)		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	0	1	hg19	c.70G>A	CCDS9593.1	1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193186	0.22037	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.68025	-0.3;-0.26;-0.26	3.72	2.82	0.32997	3.72	2.82	0.32997	.	0.209202	0.30890	U	0.008668	T	0.34629	0.0904	N	0.08118	0	0.23708	N	0.997058	B;P;P	0.48694	0.0;0.914;0.86	B;B;B	0.35182	0.002;0.197;0.129	T	0.20907	-1.0261	10	0.22109	T	0.4	-2.203	5.8303	0.18577	0.0:0.7573:0.0:0.2427	.	24;24;24	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	T	24	ENSP00000346824:A24T;ENSP00000206544:A24T;ENSP00000380437:A24T	ENSP00000206544:A24T	A	-	1	0	0	SLC22A17	22891194	22891194	0.000000	0.05858	0.865000	0.33974	0.097000	0.18754	0.050000	0.14120	0.768000	0.33290	0.462000	0.41574	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	0		2	2	2	0		0	0	11		11	10	1	2.060000	-13.546140	1	0.170000	NM_020372			7	7		63	63	0		1	0		0	0	11	0		9.824867e-01	3.739356e-02	0	0	0	3	0	7	63
EFS	10278	broad.mit.edu	37	14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.A148V|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	241	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657																																						ENST00000216733.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(721-723)gCa>gTa		embryonal Fyn-associated substrate							49.0	58.0	55.0					14																	23828965		2203	4298	6501	SO:0001583	missense	10278	0	0					g.chr14:23828965G>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.722C>T	chr14.hg19:g.23828965G>A	ENSP00000216733:p.Ala241Val	0					EFS_ENST00000351354.3_Missense_Mutation_p.A148V|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	p.A241V	NM_005864.2	NP_005855.1	0	1	1	1.986586	O43281	EFS_HUMAN		4	1329	-	all_cancers(95;7.12e-06)		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	1	1	hg19	c.722C>T	CCDS9595.1	1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967102	0.34754	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.93	4.62	0.251	0.15540	4.62	0.251	0.15540	.	1.158660	0.06436	N	0.724990	T	0.45135	0.1327	L	0.44542	1.39	0.09310	N	1	B;B	0.31548	0.328;0.043	B;B	0.30495	0.116;0.025	T	0.32955	-0.9887	10	0.34782	T	0.22	0.304	3.6496	0.08198	0.0898:0.1478:0.4939:0.2685	.	148;241	O43281-2;O43281	.;EFS_HUMAN	V	241;148	ENSP00000216733:A241V;ENSP00000340607:A148V	ENSP00000216733:A241V	A	-	2	0	0	EFS	22898805	22898805	0.014000	0.17966	0.011000	0.14972	0.929000	0.56500	0.208000	0.17415	0.156000	0.19299	0.563000	0.77884	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2	1	0	1		2	2	2	0		0	0	106		106	103	1	2.060000	-3.860661	1	0.170000				119	117		451	443	0		1	0		0	0	106	0		1	9.659929e-01	0	0	0	23	0	119	451
MYH6	4624	broad.mit.edu	37	14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000356287.3	-	33	5073	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					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)		GCCTGCAGCAGGTTGTTGCGC	0.642																																						ENST00000356287.3	0.810000	0.290000	6.700000e-01	3.900000e-01	0.510000	0.537081	0.510000	0.510000																										0				119						c.(5044-5046)Ctg>Atg		myosin, heavy chain 6, cardiac muscle, alpha							72.0	61.0	65.0					14																	23855256		2203	4300	6503	SO:0001583	missense	4624	0	0					g.chr14:23855256G>T	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.5044C>A	chr14.hg19:g.23855256G>T	ENSP00000348634:p.Leu1682Met	0					MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M|MIR208A_ENST00000362287.1_RNA	p.L1682M			0	1	1	1.986586	P13533	MYH6_HUMAN		33	5073	-	all_cancers(95;2.54e-05)		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	1	1	hg19	c.5044C>A	CCDS9600.1	0	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879769	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.2	4.2	0.49525	4.2	4.2	0.49525	Myosin tail (1);	.	.	.	.	D	0.90010	0.6881	M	0.82823	2.61	0.47245	D	0.999362	D	0.61080	0.989	D	0.71656	0.974	D	0.90520	0.4488	9	0.59425	D	0.04	.	10.5855	0.45280	0.09:0.0:0.91:0.0	.	1682	P13533	MYH6_HUMAN	M	1682	ENSP00000386041:L1682M;ENSP00000348634:L1682M	ENSP00000348634:L1682M	L	-	1	2	2	MYH6	22925096	22925096	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.145000	0.58065	2.048000	0.60808	0.561000	0.74099	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.346896	1	0.170000				14	14		306	299	0		1			0	0	74	0		9.997320e-01	0	0	0	0	0	0	14	306
MYH6	4624	broad.mit.edu	37	14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000356287.3	-	31	4575	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1516					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)		CCTAGCTGCTCAGTAAGGTCC	0.587																																						ENST00000356287.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(4546-4548)Gag>Aag		myosin, heavy chain 6, cardiac muscle, alpha							91.0	78.0	82.0					14																	23856842		2203	4300	6503	SO:0001583	missense	4624	0	0					g.chr14:23856842C>T	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.4546G>A	chr14.hg19:g.23856842C>T	ENSP00000348634:p.Glu1516Lys	0					MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K|MIR208A_ENST00000362287.1_RNA	p.E1516K			0	1	1	1.986586	P13533	MYH6_HUMAN		31	4575	-	all_cancers(95;2.54e-05)		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	1	1	hg19	c.4546G>A	CCDS9600.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.552207	0.96501	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.62	4.62	0.57501	4.62	4.62	0.57501	Myosin tail (1);	.	.	.	.	D	0.90058	0.6895	M	0.90542	3.125	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	D	0.92497	0.6005	9	0.72032	D	0.01	.	17.8518	0.88748	0.0:1.0:0.0:0.0	.	1516	P13533	MYH6_HUMAN	K	1516	ENSP00000386041:E1516K;ENSP00000348634:E1516K	ENSP00000348634:E1516K	E	-	1	0	0	MYH6	22926682	22926682	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.632000	0.83247	2.283000	0.76528	0.549000	0.68633	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.327552	1	0.170000				67	65		352	343	1		1	0		0	0	89	0		1	0	0	0	0	1	0	67	352
MYH6	4624	broad.mit.edu	37	14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000356287.3	-	29	4261	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1411					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)		GGAGCACTTGGCATTAACAGC	0.597																																						ENST00000356287.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(4231-4233)gCc>gTc		myosin, heavy chain 6, cardiac muscle, alpha							111.0	107.0	108.0					14																	23857491		2203	4300	6503	SO:0001583	missense	4624	0	0					g.chr14:23857491G>A	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.4232C>T	chr14.hg19:g.23857491G>A	ENSP00000348634:p.Ala1411Val	0					MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V|MIR208A_ENST00000362287.1_RNA	p.A1411V			0	1	1	1.986586	P13533	MYH6_HUMAN		29	4261	-	all_cancers(95;2.54e-05)		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	1	1	hg19	c.4232C>T	CCDS9600.1	1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907586	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78816	-1.21;-1.21	4.64	4.64	0.57946	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.87822	0.6274	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89631	0.3855	9	0.87932	D	0	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	1411	P13533	MYH6_HUMAN	V	1411	ENSP00000386041:A1411V;ENSP00000348634:A1411V	ENSP00000348634:A1411V	A	-	2	0	0	MYH6	22927331	22927331	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.441000	0.97557	2.292000	0.77174	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000				123	119		441	432	1		1			0	0	120	0		1	0	0	0	0	0	0	123	441
MYH6	4624	broad.mit.edu	37	14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000356287.3	-	7	690	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000405093.3_Missense_Mutation_p.I221L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			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)		GCCTGGATGATCTGGTCCTCC	0.612																																						ENST00000356287.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(661-663)Atc>Ctc		myosin, heavy chain 6, cardiac muscle, alpha							127.0	107.0	114.0					14																	23873579		2203	4300	6503	SO:0001583	missense	4624	0	0					g.chr14:23873579T>G	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.661A>C	chr14.hg19:g.23873579T>G	ENSP00000348634:p.Ile221Leu	0					MYH6_ENST00000405093.3_Missense_Mutation_p.I221L	p.I221L			0	1	1	1.986586	P13533	MYH6_HUMAN		7	690	-	all_cancers(95;2.54e-05)		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	1	1	hg19	c.661A>C	CCDS9600.1	1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.194954	0.78902	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88046	-2.33;-2.33	3.21	3.21	0.36854	3.21	3.21	0.36854	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.66297	2.02	0.52501	D	0.99995	P;P	0.35107	0.484;0.484	D;D	0.65010	0.931;0.931	D	0.92625	0.6111	9	0.72032	D	0.01	.	11.6217	0.51121	0.0:0.0:0.0:1.0	.	221;221	D9YZU2;P13533	.;MYH6_HUMAN	L	221	ENSP00000386041:I221L;ENSP00000348634:I221L	ENSP00000348634:I221L	I	-	1	0	0	MYH6	22943419	22943419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.573000	0.82421	1.467000	0.48044	0.247000	0.18012	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000				106	105		532	523	1		1			0	0	133	0		1	0	0	0	0	0	0	106	532
MYH7	4625	broad.mit.edu	37	14	23886420	23886420	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					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)			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)		ACTCCTCATAGGCGTTCTTGA	0.597																																						ENST00000355349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(4459-4461)gcC>gcA		myosin, heavy chain 7, cardiac muscle, beta							120.0	125.0	123.0					14																	23886420		2203	4300	6503	SO:0001819	synonymous_variant	4625	0	0					g.chr14:23886420G>T	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.4461C>A	chr14.hg19:g.23886420G>T		0					MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	p.A1487A	NM_000257.2	NP_000248.2	0	1	1	1.986586	P12883	MYH7_HUMAN		32	4623	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	1	1	hg19	c.4461C>A	CCDS9601.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1		2	2	2	0		0	0	214		214	212	1	2.060000	-3.319910	1	0.170000	NM_000257			147	144		754	738	1		1			0	0	214	0		1	0	0	0	0	0	0	147	754
MYH7	4625	broad.mit.edu	37	14	23894565	23894565	+	Silent	SNP	G	G	A	rs139882431	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23894565G>A	ENST00000355349.3	-	21	2511	c.2349C>T	c.(2347-2349)cgC>cgT	p.R783R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	783	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)			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)		GCGTGATGATGCGGCTCAGCC	0.587																																						ENST00000355349.3	0.520000	0.130000	4.100000e-01	2.000000e-01	0.290000	0.310004	0.290000	0.280000																										0				137						c.(2347-2349)cgC>cgT		myosin, heavy chain 7, cardiac muscle, beta		G		1,4405	2.1+/-5.4	0,1,2202	94.0	79.0	84.0		2349	-1.1	1.0	14	dbSNP_134	84	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	MYH7	NM_000257.2		0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923		783/1936	23894565	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	4625	41	121412	48				g.chr14:23894565G>A	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.2349C>T	chr14.hg19:g.23894565G>A		0						p.R783R	NM_000257.2	NP_000248.2	0	1	1	1.986586	P12883	MYH7_HUMAN		21	2511	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	0	1	hg19	c.2349C>T	CCDS9601.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	0	0		15	2	2	0		0	1	80		80	78	1	2.060000	-8.331489	1	0.170000	NM_000257			8	8		325	318	0		0			0	0	80	0		9.091006e-02	0	0	0	0	0	0	8	325
MYH7	4625	broad.mit.edu	37	14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	rs121913644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	728	Myosin motor.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype). {ECO:0000269|PubMed:11424919}.		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)			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)		AGGGATGGCCGCTGGGTTCAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20584	0.0		0.0	False		,,,				2504	0.001					ENST00000355349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137	GRCh37	CM011799	MYH7	M	rs121913644	c.(2182-2184)gCg>gTg		myosin, heavy chain 7, cardiac muscle, beta		G	VAL/ALA	1,4405		0,1,2202	97.0	83.0	87.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2183	4.9	1.0	14	dbSNP_133	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYH7	NM_000257.2	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	728/1936	23895007	3,13003	2203	4300	6503	SO:0001583	missense	4625	19	121412	43				g.chr14:23895007G>A	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.2183C>T	chr14.hg19:g.23895007G>A	ENSP00000347507:p.Ala728Val	0						p.A728V	NM_000257.2	NP_000248.2	0	1	1	1.986586	P12883	MYH7_HUMAN		20	2345	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	1	1	hg19	c.2183C>T	CCDS9601.1	1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983202	0.53827	2.27E-4	2.33E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87103	-2.21	4.88	4.88	0.63580	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.86527	0.5954	M	0.69248	2.105	0.40086	D	0.976191	B	0.12013	0.005	B	0.19946	0.027	D	0.84935	0.0862	9	0.66056	D	0.02	.	15.4006	0.74838	0.0:0.139:0.861:0.0	.	728	P12883	MYH7_HUMAN	V	728	ENSP00000347507:A728V	ENSP00000347507:A728V	A	-	2	0	0	MYH7	22964847	22964847	0.004000	0.15560	0.988000	0.46212	0.917000	0.54804	1.385000	0.34408	2.531000	0.85337	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_000257			61	54		283	275	1		1			0	0	62	0		1	0	0	0	0	0	0	61	283
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R703H(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)		CCTGCAGATGCGGATGCCCTC	0.602																																						ENST00000355349.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998349	0.990000	1.000000																										1	Substitution - Missense(1)	p.R703H(1)	ovary(1)	137						c.(2107-2109)cGc>cAc		myosin, heavy chain 7, cardiac muscle, beta							58.0	54.0	56.0					14																	23895227		2203	4300	6503	SO:0001583	missense	4625	0	0					g.chr14:23895227C>T	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.2108G>A	chr14.hg19:g.23895227C>T	ENSP00000347507:p.Arg703His	0						p.R703H	NM_000257.2	NP_000248.2	0	1	1	1.986586	P12883	MYH7_HUMAN		19	2270	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	1	1	hg19	c.2108G>A	CCDS9601.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	0	MYH7	22965067	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_000257			27	27		187	182	1		1			0	0	45	0		1	0	0	0	0	0	0	27	187
AP1G2	8906	broad.mit.edu	37	14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	367					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)			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)		CTTAGTTCCAGGGCTCTCCTG	0.592																																						ENST00000308724.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999931	0.990000	1.000000																										0				28						c.(1099-1101)Ctg>Atg		adaptor-related protein complex 1, gamma 2 subunit							60.0	56.0	58.0					14																	24033058		2203	4300	6503	SO:0001583	missense	8906	0	0					g.chr14:24033058G>T	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.1099C>A	chr14.hg19:g.24033058G>T	ENSP00000312442:p.Leu367Met	0					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	p.L367M	NM_003917.2	NP_003908.1	0	1	1	1.986586	O75843	AP1G2_HUMAN		11	1854	-	all_cancers(95;0.000251)		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	1	1	hg19	c.1099C>A	CCDS9602.1	1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921950	0.17982	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.39997	1.05;1.05	4.71	3.82	0.43975	4.71	3.82	0.43975	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.33440	0.0863	N	0.25144	0.715	0.53688	D	0.999977	P;P	0.41597	0.605;0.756	B;P	0.48704	0.264;0.587	T	0.06716	-1.0811	10	0.29301	T	0.29	-8.8989	6.1505	0.20308	0.0953:0.0:0.722:0.1827	.	367;222	O75843;Q86V28	AP1G2_HUMAN;.	M	367;367;136;222	ENSP00000312442:L367M;ENSP00000380309:L367M	ENSP00000312442:L367M	L	-	1	2	2	AP1G2	23102898	23102898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.203000	0.42752	1.180000	0.42898	0.557000	0.71058	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-2.880027	1	0.170000	NM_003917			44	43		282	277	1		1	1		0	0	77	0		1	9.999983e-01	0	47	0	83	0	44	282
AP1G2	8906	broad.mit.edu	37	14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	316					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)			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)		GAGTAGGAAGCGACCAAGAAT	0.532																																						ENST00000308724.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999923	0.990000	1.000000																										0				28						c.(946-948)cGc>cAc		adaptor-related protein complex 1, gamma 2 subunit							150.0	121.0	131.0					14																	24033572		2203	4300	6503	SO:0001583	missense	8906	0	0					g.chr14:24033572C>T	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.947G>A	chr14.hg19:g.24033572C>T	ENSP00000312442:p.Arg316His	0					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	p.R316H	NM_003917.2	NP_003908.1	0	1	1	1.986586	O75843	AP1G2_HUMAN		9	1702	-	all_cancers(95;0.000251)		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	1	1	hg19	c.947G>A	CCDS9602.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434074	0.83776	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28454	1.61;1.61	4.38	4.38	0.52667	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76868	-0.2800	10	0.87932	D	0	-6.1322	14.4989	0.67707	0.0:1.0:0.0:0.0	.	316;171	O75843;Q86V28	AP1G2_HUMAN;.	H	316;316;85;171	ENSP00000312442:R316H;ENSP00000380309:R316H	ENSP00000312442:R316H	R	-	2	0	0	AP1G2	23103412	23103412	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.751000	0.62169	2.269000	0.75478	0.557000	0.71058	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-19.726910	1	0.170000	NM_003917			46	45		301	291	1		1	1		0	0	72	0		1	9.999989e-01	0	39	0	97	0	46	301
JPH4	84502	broad.mit.edu	37	14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000397118.3	-	6	2580	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	560					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677																																						ENST00000397118.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1678-1680)Gca>Aca		junctophilin 4							45.0	50.0	48.0					14																	24040262		2203	4300	6503	SO:0001583	missense	84502	0	0					g.chr14:24040262C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1678G>A	chr14.hg19:g.24040262C>T	ENSP00000380307:p.Ala560Thr	0					JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000308724.5_5'Flank	p.A560T	NM_032452.2	NP_115828.2	0	1	1	1.986586	Q96JJ6	JPH4_HUMAN		6	2580	-	all_cancers(95;0.000251)		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	1	1	hg19	c.1678G>A	CCDS9603.1	1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856914	0.71834	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.56611	0.45;0.45;0.91	5.08	4.13	0.48395	5.08	4.13	0.48395	.	0.764876	0.10176	U	0.706458	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.037	B;B	0.23574	0.047;0.013	T	0.05801	-1.0863	10	0.14252	T	0.57	.	12.0487	0.53495	0.0:0.8254:0.1746:0.0	.	225;560	F5H1L9;Q96JJ6	.;JPH4_HUMAN	T	560;560;560;561;225	ENSP00000348648:A560T;ENSP00000380307:A560T;ENSP00000439562:A225T	ENSP00000267407:A561T	A	-	1	0	0	JPH4	23110102	23110102	0.002000	0.14202	0.777000	0.31699	0.900000	0.52787	1.311000	0.33562	2.518000	0.84900	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	1		2	2	2	0		0	0	77		77	74	1	2.060000	-20.000000	1	0.170000	NM_032452			128	126		470	461	1		1	0		0	0	77	0		1	2.047206e-01	0	0	0	4	0	128	470
JPH4	84502	broad.mit.edu	37	14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687																																						ENST00000397118.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999733	0.990000	1.000000																										0				22						c.(1141-1143)Gcc>Acc		junctophilin 4							11.0	12.0	12.0					14																	24044904		2181	4283	6464	SO:0001583	missense	84502	0	0					g.chr14:24044904C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1141G>A	chr14.hg19:g.24044904C>T	ENSP00000380307:p.Ala381Thr	0					JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	p.A381T	NM_032452.2	NP_115828.2	0	1	1	1.986586	Q96JJ6	JPH4_HUMAN		4	2043	-	all_cancers(95;0.000251)		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	0	1	hg19	c.1141G>A	CCDS9603.1	1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	0	JPH4	23114744	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	1		2	2	2	0		0	0	12		12	9	1	2.060000	-20.000000	1	0.170000	NM_032452			16	13		66	55	1		1			0	0	12	0		9.998388e-01	0	0	0	0	0	0	16	66
JPH4	84502	broad.mit.edu	37	14	24045124	24045124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Silent_p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	307					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741																																						ENST00000397118.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.996526	0.990000	1.000000																										0				22						c.(919-921)ggC>ggT		junctophilin 4							7.0	8.0	7.0					14																	24045124		1863	3754	5617	SO:0001819	synonymous_variant	84502	0	0					g.chr14:24045124G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.921C>T	chr14.hg19:g.24045124G>A		0					JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Silent_p.G307G	p.G307G	NM_032452.2	NP_115828.2	0	1	1	1.986586	Q96JJ6	JPH4_HUMAN		4	1823	-	all_cancers(95;0.000251)		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	0	1	hg19	c.921C>T	CCDS9603.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_032452			17	17		109	107	0		1			0	0	12	0		9.999736e-01	0	0	0	0	0	0	17	109
DHRS4L2	317749	broad.mit.edu	37	14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	179						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCTTCAGTCCTTACAATGTC	0.478																																						ENST00000335125.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(541-543)cCt>cAt		dehydrogenase/reductase (SDR family) member 4 like 2							97.0	117.0	111.0					14																	24470603		2141	4300	6441	SO:0001583	missense	317749	0	0					g.chr14:24470603C>A		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.542C>A	chr14.hg19:g.24470603C>A	ENSP00000334801:p.Pro181His	0					DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000543805.1_Intron	p.P181H	NM_198083.3	NP_932349.2	0	1	1	1.986586	Q6PKH6	DR4L2_HUMAN		6	668	+			Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	1	1	hg19	c.542C>A	CCDS9606.2	1	.	.	.	.	.	.	.	.	.	.	-	7.332	0.619136	0.14129	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.87256	-2.23;0.69;-2.23	2.85	0.915	0.19366	2.85	0.915	0.19366	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.98;0.948;0.988	T	0.79205	-0.1899	10	0.52906	T	0.07	.	6.6805	0.23117	0.0:0.7399:0.0:0.2601	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	H	119;181;106;179	ENSP00000334801:P181H;ENSP00000439942:P106H;ENSP00000372203:P179H	ENSP00000334801:P181H	P	+	2	0	0	DHRS4L2	23540443	23540443	0.998000	0.40836	0.148000	0.22405	0.107000	0.19398	4.550000	0.60733	0.091000	0.17302	0.194000	0.17425	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4	1	0	1		2	2	2	0		0	0	155		155	184	1	2.060000	-3.143355	1	0.170000				118	104		632	582	0		1	0		0	0	155	0		1	3.060281e-01	0	1	0	6	0	118	632
LRRC16B	90668	broad.mit.edu	37	14	24523715	24523715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	119						cytoplasm (GO:0005737)				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)		TCTGCCCTGGCCCTGGGTGAG	0.582																																						ENST00000342740.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				52						c.(355-357)ggC>ggT		leucine rich repeat containing 16B							68.0	59.0	62.0					14																	24523715		2203	4300	6503	SO:0001819	synonymous_variant	90668	0	0					g.chr14:24523715C>T	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.357C>T	chr14.hg19:g.24523715C>T		0					LRRC16B_ENST00000334420.7_5'UTR	p.G119G	NM_138360.3	NP_612369.3	0	1	1	1.986586	Q8ND23	LR16B_HUMAN		5	511	+			Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	1	1	hg19	c.357C>T	CCDS32054.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_138360			40	40		228	223	0		1	0		0	0	61	0		1	2.353424e-02	0	1	0	1	0	40	228
LRRC16B	90668	broad.mit.edu	37	14	24527939	24527939	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	481						cytoplasm (GO:0005737)				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)		GAGCTGTCACCTGTGTAGGCA	0.637											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342740.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1441-1443)acC>acA		leucine rich repeat containing 16B							95.0	97.0	96.0					14																	24527939		2203	4300	6503	SO:0001819	synonymous_variant	90668	0	0					g.chr14:24527939C>A	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.1443C>A	chr14.hg19:g.24527939C>A		0		OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	LRRC16B_ENST00000334420.7_5'UTR	p.T481T	NM_138360.3	NP_612369.3	0	1	1	1.986586	Q8ND23	LR16B_HUMAN		18	1597	+			Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	1	1	hg19	c.1443C>A	CCDS32054.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_138360			44	41		171	168	1		1	0		0	0	47	0		1	2.786751e-01	0	1	0	4	0	44	171
PCK2	5106	broad.mit.edu	37	14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000216780.4	+	2	401	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	45					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577																																						ENST00000216780.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(133-135)Cga>Tga		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							95.0	84.0	88.0					14																	24566204		2203	4300	6503	SO:0001587	stop_gained	5106	2	121412	34				g.chr14:24566204C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.133C>T	chr14.hg19:g.24566204C>T	ENSP00000216780:p.Arg45*	0					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000560657.1_3'UTR|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*	p.R45*	NM_004563.2	NP_004554.2	0	1	1	1.986586	Q16822	PCKGM_HUMAN		2	401	+			O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	0	1	hg19	c.133C>T	CCDS9609.1	1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000904	0.54254	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.58	0.56647	5.52	4.58	0.56647	.	0.179793	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0504	12.1787	0.54199	0.2581:0.7419:0.0:0.0	.	.	.	.	X	45	.	ENSP00000216780:R45X	R	+	1	2	2	PCK2	23636044	23636044	0.569000	0.26643	0.955000	0.39395	0.004000	0.04260	0.894000	0.28350	2.746000	0.94184	0.650000	0.86243	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001018073			89	89		374	370	0		1	1		0	0	98	0		1	1	0	20	0	116	0	89	374
PCK2	5106	broad.mit.edu	37	14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000216780.4	+	3	629	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000561286.1_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	121				Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627																																						ENST00000216780.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(361-363)Caa>Taa		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							58.0	45.0	49.0					14																	24567497		2203	4300	6503	SO:0001587	stop_gained	5106	0	0					g.chr14:24567497C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.361C>T	chr14.hg19:g.24567497C>T	ENSP00000216780:p.Gln121*	0					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*	p.Q121*	NM_004563.2	NP_004554.2	0	1	1	1.986586	Q16822	PCKGM_HUMAN		3	629	+			O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	0	1	hg19	c.361C>T	CCDS9609.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.478142	0.96291	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3507	16.1997	0.82060	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000216780:Q121X	Q	+	1	0	0	PCK2	23637337	23637337	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	7.487000	0.81328	2.419000	0.82065	0.462000	0.41574	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_001018073			37	35		169	164	1		1	1		0	0	41	0		1	9.999956e-01	0	20	0	71	0	37	169
PCK2	5106	broad.mit.edu	37	14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000216780.4	+	5	1073	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	269					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672																																						ENST00000216780.4	1.000000	0.720000	1	8.700000e-01	0.990000	0.956578	0.990000	1.000000																										0				18						c.(805-807)Gcc>Acc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							45.0	41.0	42.0					14																	24568398		2203	4300	6503	SO:0001583	missense	5106	7	121410	39				g.chr14:24568398G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.805G>A	chr14.hg19:g.24568398G>A	ENSP00000216780:p.Ala269Thr	0					PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T	p.A269T	NM_004563.2	NP_004554.2	0	1	1	1.986586	Q16822	PCKGM_HUMAN		5	1073	+			O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	1	1	hg19	c.805G>A	CCDS9609.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.854427	0.97030	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.63428	1.95	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;0.992;0.999;0.996	T	0.32798	-0.9893	10	0.87932	D	0	-19.0125	17.534	0.87822	0.0:0.0:1.0:0.0	.	135;269;269;269	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	269;269;135	ENSP00000216780:A269T;ENSP00000380171:A269T;ENSP00000441826:A135T	ENSP00000216780:A269T	A	+	1	0	0	PCK2	23638238	23638238	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.750000	0.94351	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_001018073			27	27		271	268	1		1	1		0	0	48	0		1	9.998335e-01	0	23	0	115	0	27	271
PSME1	5720	broad.mit.edu	37	14	24607694	24607694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24607694G>A	ENST00000206451.6	+	10	699	c.594G>A	c.(592-594)cgG>cgA	p.R198R	RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000382708.3_Silent_p.R198R|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000561435.1_Silent_p.R198R	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					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)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GTGATTATCGGCAGCTGGTGC	0.607																																						ENST00000206451.6	0.380000	0.130000	3.100000e-01	1.800000e-01	0.230000	0.248524	0.230000	0.230000																										0				11						c.(592-594)cgG>cgA		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							105.0	102.0	103.0					14																	24607694		2203	4300	6503	SO:0001819	synonymous_variant	5720	0	0					g.chr14:24607694G>A		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.594G>A	chr14.hg19:g.24607694G>A		0					PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000561435.1_Silent_p.R198R|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000382708.3_Silent_p.R198R	p.R198R	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	0	1	1	1.986586	Q06323	PSME1_HUMAN		10	699	+			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	0	1	hg19	c.594G>A	CCDS9612.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	0	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-2.872152	1	0.170000	NM_006263			14	14		686	673	0		1	1		0	0	134	0		9.997201e-01	1	0	52	0	2289	0	14	686
RNF31	55072	broad.mit.edu	37	14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	149	Polyubiquitin-binding.				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)			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)		GGTTGCTACAGTCACACTGGA	0.557																																						ENST00000324103.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(445-447)Gtc>Atc		ring finger protein 31							62.0	66.0	64.0					14																	24617572		2100	4215	6315	SO:0001583	missense	55072	0	0					g.chr14:24617572G>A	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.445G>A	chr14.hg19:g.24617572G>A	ENSP00000315112:p.Val149Ile	0					PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank	p.V149I	NM_017999.4	NP_060469.4	0	1	1	1.986586	Q96EP0	RNF31_HUMAN		3	765	+			A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	1	1	hg19	c.445G>A	CCDS41931.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220579	0.79464	.	.	ENSG00000092098	ENST00000324103	T	0.55588	0.51	5.31	5.31	0.75309	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	L	0.50333	1.59	0.80722	D	1	B	0.24186	0.099	B	0.31614	0.133	T	0.47812	-0.9088	10	0.49607	T	0.09	-20.5992	11.9072	0.52719	0.0827:0.0:0.9173:0.0	.	149	Q96EP0	RNF31_HUMAN	I	149	ENSP00000315112:V149I	ENSP00000315112:V149I	V	+	1	0	0	RNF31	23687412	23687412	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	6.548000	0.73896	2.779000	0.95612	0.655000	0.94253	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_017999			33	32		130	128	1		1	1		0	0	35	0		1	9.999999e-01	0	27	0	86	0	33	130
RNF31	55072	broad.mit.edu	37	14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T	rs375081171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_Missense_Mutation_p.S272L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	423	Polyubiquitin-binding.				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)			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)		TTCTGCAACTCGAGCCCTGGC	0.557																																						ENST00000324103.6	1.000000	0.910000	1	9.900000e-01	0.990000	0.993586	0.990000	1.000000																										0				39						c.(1267-1269)tCg>tTg		ring finger protein 31							131.0	145.0	140.0					14																	24619877		2009	4173	6182	SO:0001583	missense	55072	1	120932	42				g.chr14:24619877C>T	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.1268C>T	chr14.hg19:g.24619877C>T	ENSP00000315112:p.Ser423Leu	0					RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RP11-468E2.4_ENST00000558468.1_5'Flank	p.S423L	NM_017999.4	NP_060469.4	0	1	1	1.986586	Q96EP0	RNF31_HUMAN		8	1588	+			A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	1	1	hg19	c.1268C>T	CCDS41931.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412775	0.62511	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.98	5.87	4.99	0.66335	5.87	4.99	0.66335	Zinc finger, RanBP2-type (2);	0.331771	0.28414	N	0.015430	T	0.45458	0.1343	L	0.52364	1.645	0.33845	D	0.631964	D;D;D	0.67145	0.969;0.992;0.996	B;P;P	0.51945	0.296;0.487;0.685	T	0.62525	-0.6836	10	0.72032	D	0.01	-2.5388	7.735	0.28808	0.1614:0.7565:0.0:0.0821	.	238;423;272	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	423;272	ENSP00000315112:S423L;ENSP00000372134:S272L	ENSP00000315112:S423L	S	+	2	0	0	RNF31	23689717	23689717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	1.489000	0.48450	0.655000	0.94253	TCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	0		2	2	2	0		0	0	174		174	173	1	2.060000	-3.017764	1	0.170000	NM_017999			88	88		828	815	0		1	1		0	0	174	0		1	9.996496e-01	0	5	0	103	0	88	828
RNF31	55072	broad.mit.edu	37	14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_Missense_Mutation_p.S299I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	450	Polyubiquitin-binding.				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)			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)		CCCTATGCCAGCTCTTTGGAA	0.612																																						ENST00000324103.6	1.000000	0.760000	1	8.600000e-01	0.980000	0.949579	0.980000	1.000000																										0				39						c.(1348-1350)aGc>aTc		ring finger protein 31							71.0	77.0	75.0					14																	24619958		1882	4102	5984	SO:0001583	missense	55072	0	0					g.chr14:24619958G>T	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.1349G>T	chr14.hg19:g.24619958G>T	ENSP00000315112:p.Ser450Ile	0					RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RP11-468E2.4_ENST00000558468.1_5'Flank	p.S450I	NM_017999.4	NP_060469.4	0	1	1	1.986586	Q96EP0	RNF31_HUMAN		8	1669	+			A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	1	1	hg19	c.1349G>T	CCDS41931.1	1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102621	0.37145	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.48836	0.8;0.8	5.87	3.0	0.34707	5.87	3.0	0.34707	.	0.740640	0.13790	N	0.362573	T	0.41650	0.1168	L	0.56769	1.78	0.32017	N	0.601277	B;P;P	0.38078	0.346;0.483;0.617	B;B;B	0.37144	0.039;0.086;0.242	T	0.50800	-0.8785	10	0.45353	T	0.12	-1.4673	7.1867	0.25803	0.1577:0.1516:0.6907:0.0	.	265;450;299	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	450;299	ENSP00000315112:S450I;ENSP00000372134:S299I	ENSP00000315112:S450I	S	+	2	0	0	RNF31	23689798	23689798	0.817000	0.29147	0.997000	0.53966	0.916000	0.54674	0.234000	0.17930	0.792000	0.33850	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	0		2	2	2	0		0	0	109		109	109	1	2.060000	-14.856320	1	0.170000	NM_017999			57	56		616	592	1		1	1		0	0	109	0		1	9.991794e-01	0	12	0	102	0	57	616
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.S328N	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	388					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527																																						ENST00000396864.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.A388T(1)	large_intestine(1)	16						c.(1162-1164)Gcc>Acc		interferon regulatory factor 9							64.0	64.0	64.0					14																	24635385		2203	4300	6503	SO:0001583	missense	10379	0	0					g.chr14:24635385G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1162G>A	chr14.hg19:g.24635385G>A	ENSP00000380073:p.Ala388Thr	0					IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	p.A388T	NM_006084.4	NP_006075.3	0	1	1	1.986586	Q00978	IRF9_HUMAN		9	1449	+			D3DS61	Missense_Mutation	SNP	ENST00000396864.3	1	1	hg19	c.1162G>A	CCDS9615.1	1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	0	IRF9	23705225	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				30	29		110	106	1		1	1		0	0	46	0		1	1	0	240	0	577	0	30	110
REC8	9985	broad.mit.edu	37	14	24642111	24642111	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	43					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(127-129)gaG>gaA		REC8 meiotic recombination protein							54.0	62.0	59.0					14																	24642111		2043	4178	6221	SO:0001819	synonymous_variant	9985	0	0					g.chr14:24642111G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.129G>A	chr14.hg19:g.24642111G>A		0					REC8_ENST00000559919.1_Silent_p.E43E	p.E43E			0	1	1	1.986586	O95072	REC8_HUMAN		4	728	+			A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	1	1	hg19	c.129G>A	CCDS41932.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	1	0	1		2	2	2	0		0	0	55		55	52	1	2.060000	-3.403578	1	0.170000	NM_005132			83	79		339	337	1		1	0		0	0	55	0		1	4.174729e-01	0	0	0	7	0	83	339
REC8	9985	broad.mit.edu	37	14	24646361	24646361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	212	Glu-rich.				double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(634-636)gaG>gaA		REC8 meiotic recombination protein							50.0	55.0	53.0					14																	24646361		1884	4109	5993	SO:0001819	synonymous_variant	9985	0	0					g.chr14:24646361G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.636G>A	chr14.hg19:g.24646361G>A		0					REC8_ENST00000559919.1_Silent_p.E212E	p.E212E			0	1	1	1.986586	O95072	REC8_HUMAN		9	1235	+			A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	1	1	hg19	c.636G>A	CCDS41932.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_005132			61	57		316	304	1		1	1		0	0	74	0		1	7.245254e-01	0	2	0	13	0	61	316
IPO4	79711	broad.mit.edu	37	14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A	rs535037141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	953					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612																																						ENST00000354464.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2857-2859)Cga>Tga		importin 4							70.0	78.0	75.0					14																	24651000		2043	4196	6239	SO:0001587	stop_gained	79711	0	0					g.chr14:24651000G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2857C>T	chr14.hg19:g.24651000G>A	ENSP00000346453:p.Arg953*	0					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R953*	NM_024658.3	NP_078934.3	0	1	1	1.986586	Q8TEX9	IPO4_HUMAN		27	3033	-			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	0	1	hg19	c.2857C>T	CCDS9616.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451090	0.84209	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.97	5.08	0.68730	5.97	5.08	0.68730	.	0.224065	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.6638	15.4355	0.75143	0.0:0.0:0.8595:0.1405	.	.	.	.	X	953;629	.	ENSP00000346453:R953X	R	-	1	2	2	IPO4	23720840	23720840	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	1.486000	0.35530	0.873000	0.35799	-0.808000	0.03180	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.640082	1	0.170000	NM_024658			61	61		244	239	1		1	0		0	0	58	0		1	9.999973e-01	0	1	0	78	0	61	244
IPO4	79711	broad.mit.edu	37	14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T	rs372694223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	752					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662																																						ENST00000354464.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2254-2256)Gtg>Atg		importin 4		C	MET/VAL	0,4208		0,0,2104	43.0	50.0	47.0		2254	-1.4	0.9	14		47	2,8470		0,2,4234	no	missense	IPO4	NM_024658.3	21	0,2,6338	TT,TC,CC		0.0236,0.0,0.0158	benign	752/1082	24652349	2,12678	2104	4236	6340	SO:0001583	missense	79711	1	121056	40				g.chr14:24652349C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2254G>A	chr14.hg19:g.24652349C>T	ENSP00000346453:p.Val752Met	0					RP11-468E2.2_ENST00000561419.1_3'UTR	p.V752M	NM_024658.3	NP_078934.3	0	1	1	1.986586	Q8TEX9	IPO4_HUMAN		23	2430	-			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	1	1	hg19	c.2254G>A	CCDS9616.1	1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260088	0.23051	0.0	2.36E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.67171	-0.25	5.89	-1.42	0.08913	5.89	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (2);	0.788870	0.11743	N	0.533853	T	0.37598	0.1009	N	0.08118	0	0.30553	N	0.765211	B;B	0.19445	0.011;0.036	B;B	0.15870	0.006;0.014	T	0.25676	-1.0125	10	0.23891	T	0.37	-2.0618	4.6873	0.12764	0.0:0.2166:0.314:0.4694	.	752;752	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	752;428	ENSP00000346453:V752M	ENSP00000346453:V752M	V	-	1	0	0	IPO4	23722189	23722189	0.007000	0.16637	0.862000	0.33874	0.765000	0.43378	-1.611000	0.02062	-0.090000	0.12462	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_024658			70	69		369	356	1		1	1		0	0	105	0		1	9.999162e-01	0	34	0	40	0	70	369
TM9SF1	10548	broad.mit.edu	37	14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000261789.4	-	6	1874	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|IPO4_ENST00000354464.6_5'Flank|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	506					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527																																						ENST00000261789.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1516-1518)Gcc>Acc		transmembrane 9 superfamily member 1							117.0	108.0	111.0					14																	24658926		2203	4300	6503	SO:0001583	missense	10548	0	0					g.chr14:24658926C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1516G>A	chr14.hg19:g.24658926C>T	ENSP00000261789:p.Ala506Thr	0					IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T	p.A506T	NM_006405.5	NP_006396.2	0	1	1	1.986586	O15321	TM9S1_HUMAN		6	1874	-			D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	1	1	hg19	c.1516G>A	CCDS9617.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.189563|4.189563	0.78789|0.78789	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.43294|0.54866	0.95;0.95;0.95;0.95;0.95|0.55	5.65|5.65	5.65|5.65	0.86999|0.86999	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	B|.	0.32203|.	0.36|.	B|.	0.26416|.	0.069|.	T|T	0.54282|0.54282	-0.8317|-0.8317	10|7	0.59425|0.87932	D|D	0.04|0	-13.9922|-13.9922	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	506|.	O15321|.	TM9S1_HUMAN|.	T|H	506;489;715;419;715|73	ENSP00000261789:A506T;ENSP00000432997:A489T;ENSP00000451949:A715T;ENSP00000434387:A419T;ENSP00000433967:A715T|ENSP00000436486:R73H	ENSP00000433967:A715T|ENSP00000436486:R73H	A|R	-|-	1|2	0|0	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728766|23728766	23728766|23728766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-3.148666	1	0.170000	NM_006405			71	71		377	368	1		1	1		0	0	106	0		1	1	0	79	0	272	0	71	377
CHMP4A	29082	broad.mit.edu	37	14	24679567	24679567	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000609024.1	-	5	645	c.597G>A	c.(595-597)ctG>ctA	p.L199L	TM9SF1_ENST00000530611.1_Silent_p.L199L|CHMP4A_ENST00000347519.6_Silent_p.L242L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L199L|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000530996.1_Silent_p.L94L			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	199	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGCCGGCAGATGAGTAG	0.502																																						ENST00000609024.1	0.310000	0.100000	2.500000e-01	1.400000e-01	0.190000	0.200634	0.190000	0.190000																										0				9						c.(595-597)ctG>ctA		charged multivesicular body protein 4A							142.0	145.0	144.0					14																	24679567		2203	4300	6503	SO:0001819	synonymous_variant	29082	0	0					g.chr14:24679567C>T	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.597G>A	chr14.hg19:g.24679567C>T		0					CHMP4A_ENST00000347519.6_Silent_p.L242L|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Silent_p.L199L|TM9SF1_ENST00000556387.1_Silent_p.L199L|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Silent_p.L94L	p.L199L			0	1	1	1.986586	Q9BY43	CHM4A_HUMAN		5	645	-			Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	0	1	hg19	c.597G>A		0	.	.	.	.	.	.	.	.	.	.	C	6.553	0.470224	0.12461	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.46	-0.181	0.13291	5.46	-0.181	0.13291	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-7.8791	3.446	0.07481	0.4183:0.3136:0.0:0.2681	.	.	.	.	T	182	.	.	A	-	1	0	0	AL096870.1	23749407	23749407	0.975000	0.34042	0.463000	0.27130	0.239000	0.25481	0.120000	0.15647	0.271000	0.22005	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	0	0	0		2	2	2	0		0	0	172		172	171	1	2.060000	-2.694925	1	0.170000	NM_014169			12	11		740	716	0		1	1		0	0	172	0		9.989182e-01	9.667520e-01	0	12	0	343	0	12	740
CHMP4A	29082	broad.mit.edu	37	14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000609024.1	-	5	598	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	184	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GGTTCTTCTTCCTTGTCGCCC	0.517																																						ENST00000609024.1	0.500000	0.240000	4.400000e-01	3.000000e-01	0.360000	0.372836	0.360000	0.360000																										0				9						c.(550-552)Gaa>Taa		charged multivesicular body protein 4A							199.0	208.0	205.0					14																	24679614		2203	4300	6503	SO:0001587	stop_gained	29082	0	0					g.chr14:24679614C>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.550G>T	chr14.hg19:g.24679614C>A	ENSP00000476412:p.Glu184*	0					CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*	p.E184*			0	1	1	1.986586	Q9BY43	CHM4A_HUMAN		5	598	-			Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Nonsense_Mutation	SNP	ENST00000609024.1	0	1	hg19	c.550G>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245092|3.245092	0.59103|0.59103	.|.	.|.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505|ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011|ENST00000548308	.|.	.|.	.|.	5.46|5.46	3.62|3.62	0.41486|0.41486	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	0.313069|.	0.22848|.	N|.	0.054881|.	.|T	.|0.50360	.|0.1611	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59658	.|-0.7413	.|3	0.09590|.	T|.	0.72|.	-7.7942|-7.7942	8.6606|8.6606	0.34091|0.34091	0.0:0.8202:0.0:0.1798|0.0:0.8202:0.0:0.1798	.|.	.|.	.|.	.|.	X|V	184;184;227;194|166	.|.	ENSP00000324205:E227X|.	E|G	-|-	1|2	0|0	0|0	TM9SF1;AL096870.1;RP11-468E2.1|AL096870.1	23749454|23749454	23749454|23749454	0.017000|0.017000	0.18338|0.18338	0.983000|0.983000	0.44433|0.44433	0.596000|0.596000	0.36781|0.36781	1.319000|1.319000	0.33655|0.33655	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	GAA|GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	0	0	0		2	2	2	0		0	0	218		218	218	1	2.060000	-2.908312	1	0.170000	NM_014169			30	28		937	919	0		1	1		0	0	218	0		1	9.999541e-01	0	6	0	464	0	30	937
MDP1	145553	broad.mit.edu	37	14	24683242	24683242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|MDP1_ENST00000396833.2_3'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	173						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						AGGCCTCAAATGGGCTCTCCT	0.423																																						ENST00000288087.7	0.710000	0.250000	5.800000e-01	3.300000e-01	0.440000	0.465787	0.440000	0.430000																										0				7						c.(517-519)ccA>ccG		magnesium-dependent phosphatase 1							63.0	64.0	64.0					14																	24683242		2203	4300	6503	SO:0001819	synonymous_variant	145553	0	0					g.chr14:24683242T>C	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.519A>G	chr14.hg19:g.24683242T>C		0					MDP1_ENST00000396833.2_3'UTR|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank	p.P173P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	0	1	1	1.986586	Q86V88	MGDP1_HUMAN		6	630	-			Q86Y84|Q8NAD9	Silent	SNP	ENST00000288087.7	1	1	hg19	c.519A>G	CCDS9620.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-13.977560	1	0.170000	NM_138476			13	13		332	329	0		1	1		0	0	80	0		9.995305e-01	8.765545e-01	0	3	0	94	0	13	332
MDP1	145553	broad.mit.edu	37	14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W|MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'Flank|MDP1_ENST00000396833.2_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	126						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACAATATTCCGCCTCTCATCA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.001					ENST00000288087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(376-378)Cgg>Tgg		magnesium-dependent phosphatase 1		G	,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	137.0	139.0		,376,427,376	4.1	1.0	14	dbSNP_100	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	MDP1,NEDD8-MDP1	NM_001199821.1,NM_001199822.1,NM_001199823.1,NM_138476.3	,101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,probably-damaging	,126/138,143/194,126/177	24683543	2,13004	2203	4300	6503	SO:0001583	missense	145553	7	121412	51				g.chr14:24683543G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.376C>T	chr14.hg19:g.24683543G>A	ENSP00000288087:p.Arg126Trp	0					MDP1_ENST00000396833.2_Intron|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	p.R126W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	0	1	1	1.986586	Q86V88	MGDP1_HUMAN		5	487	-			Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	1	0	hg19	c.376C>T	CCDS9620.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149115	0.78001	2.27E-4	1.16E-4	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.0	4.1	0.47936	5.0	4.1	0.47936	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.27991	U	0.017029	D	0.97914	0.9314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.41790	T	0.15	-13.1301	10.6353	0.45560	0.0:0.0:0.8088:0.1912	.	126	Q86V88	MGDP1_HUMAN	W	126;143	ENSP00000288087:R126W;ENSP00000431482:R143W	ENSP00000288087:R126W	R	-	1	2	2	MDP1;NEDD8-MDP1	23753383	23753383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.475000	0.45162	1.323000	0.45263	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	1	0	0		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_138476			117	116		547	535	0		1	1		0	0	153	0		1	1	0	29	0	103	0	117	547
MDP1	145553	broad.mit.edu	37	14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	32						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACCTCACCTGCTCTTATGGAA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(94-96)aGc>aAc		magnesium-dependent phosphatase 1							172.0	166.0	168.0					14																	24684946		2203	4300	6503	SO:0001583	missense	145553	0	0					g.chr14:24684946C>T	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.95G>A	chr14.hg19:g.24684946C>T	ENSP00000288087:p.Ser32Asn	0		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'UTR|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Intron	p.S32N	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	0	1	1	1.986586	Q86V88	MGDP1_HUMAN		2	206	-			Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	1	1	hg19	c.95G>A	CCDS9620.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364688	0.61513	.	.	ENSG00000213920	ENST00000288087;ENST00000396833	D;D	0.97303	-4.33;-4.33	4.92	4.03	0.46877	4.92	4.03	0.46877	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92021	0.7472	N	0.17872	0.535	0.22601	N	0.998946	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.82544	-0.0404	9	0.17832	T	0.49	.	9.3942	0.38392	0.0:0.9028:0.0:0.0972	.	32;32;32	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	32	ENSP00000288087:S32N;ENSP00000380045:S32N	ENSP00000288087:S32N	S	-	2	0	0	MDP1	23754786	23754786	0.577000	0.26708	0.994000	0.49952	0.992000	0.81027	0.390000	0.20768	1.432000	0.47375	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	1	0	1		2	2	2	0		0	0	212		212	209	1	2.060000	-20.000000	1	0.170000	NM_138476			155	148		847	832	1		1	1		0	0	212	0		1	9.999998e-01	0	27	0	90	0	155	847
TINF2	26277	broad.mit.edu	37	14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000267415.7	-	3	659	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000399423.4_Missense_Mutation_p.K106N|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558510.1_5'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	106					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000267415.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				7						c.(316-318)aaG>aaT		TERF1 (TRF1)-interacting nuclear factor 2							69.0	65.0	66.0					14																	24710962		1904	4128	6032	SO:0001583	missense	26277	0	0		Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	g.chr14:24710962C>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.318G>T	chr14.hg19:g.24710962C>A	ENSP00000267415:p.Lys106Asn	0					TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.K106N	p.K106N	NM_001099274.1	NP_001092744.1	0	1	1	1.986586	Q9BSI4	TINF2_HUMAN		3	659	-			B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	1	1	hg19	c.318G>T	CCDS41936.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406045	0.62288	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.45276	0.9;0.9;0.9	5.13	3.31	0.37934	5.13	3.31	0.37934	.	0.255699	0.39544	N	0.001336	T	0.54334	0.1852	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;P;P	0.63877	0.919;0.801;0.801	T	0.50988	-0.8762	10	0.41790	T	0.15	-9.6111	7.729	0.28775	0.0:0.8111:0.0:0.1889	.	71;106;106	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	N	106;71;106	ENSP00000267415:K106N;ENSP00000442154:K71N;ENSP00000382350:K106N	ENSP00000267415:K106N	K	-	3	2	2	TINF2	23780802	23780802	0.980000	0.34600	0.997000	0.53966	0.767000	0.43475	0.129000	0.15830	0.743000	0.32719	0.491000	0.48974	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				23	23		96	95	1		1	1		0	0	27	0		9.999997e-01	1	0	51	0	171	0	23	96
TGM1	7051	broad.mit.edu	37	14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	511					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552																																						ENST00000206765.6	1.000000	0.610000	1	7.500000e-01	0.920000	0.894119	0.920000	1.000000																										0				24						c.(1531-1533)gGc>gAc		transglutaminase 1	L-Glutamine(DB00130)						100.0	82.0	88.0					14																	24724683		2203	4300	6503	SO:0001583	missense	7051	0	0					g.chr14:24724683C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1532G>A	chr14.hg19:g.24724683C>T	ENSP00000206765:p.Gly511Asp	0					TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	p.G511D	NM_000359.2	NP_000350.1	0	1	1	1.986586	P22735	TGM1_HUMAN		11	1655	-			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	1	1	hg19	c.1532G>A	CCDS9622.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870567	0.91587	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.81996	-1.56;-1.56	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90846	0.4727	10	0.72032	D	0.01	-31.6259	16.9613	0.86273	0.0:1.0:0.0:0.0	.	511	P22735	TGM1_HUMAN	D	511;69	ENSP00000206765:G511D;ENSP00000439446:G69D	ENSP00000206765:G511D	G	-	2	0	0	TGM1	23794523	23794523	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.602000	0.87976	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_000359			24	24		280	270	0		1	0		0	0	59	0		9.999996e-01	5.752267e-02	0	1	0	4	0	24	280
TGM1	7051	broad.mit.edu	37	14	24729006	24729006	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	296					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627																																						ENST00000206765.6	0.860000	0.190000	6.600000e-01	3.000000e-01	0.460000	0.489506	0.460000	0.430000																										0				24						c.(886-888)ggG>ggA		transglutaminase 1	L-Glutamine(DB00130)						47.0	38.0	41.0					14																	24729006		2203	4300	6503	SO:0001819	synonymous_variant	7051	0	0					g.chr14:24729006C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.888G>A	chr14.hg19:g.24729006C>T		0					TGM1_ENST00000544573.1_Intron	p.G296G	NM_000359.2	NP_000350.1	0	1	1	1.986586	P22735	TGM1_HUMAN		6	1011	-			B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	0	1	hg19	c.888G>A	CCDS9622.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-8.810765	1	0.170000	NM_000359			6	5		154	151	0		1	0		0	0	22	0		9.630770e-01	2.120730e-03	0	0	0	2	0	6	154
TGM1	7051	broad.mit.edu	37	14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	280					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572																																						ENST00000206765.6	0.750000	0.280000	6.200000e-01	3.700000e-01	0.480000	0.505067	0.480000	0.480000																										0				24						c.(838-840)Gaa>Aaa		transglutaminase 1	L-Glutamine(DB00130)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		838	5.4	1.0	14	dbSNP_134	89	0,8600		0,0,4300	no	missense	TGM1	NM_000359.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	280/818	24729184	1,13005	2203	4300	6503	SO:0001583	missense	7051	6	121412	40				g.chr14:24729184C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.838G>A	chr14.hg19:g.24729184C>T	ENSP00000206765:p.Glu280Lys	0					TGM1_ENST00000544573.1_Intron	p.E280K	NM_000359.2	NP_000350.1	0	1	1	1.986586	P22735	TGM1_HUMAN		5	961	-			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	1	1	hg19	c.838G>A	CCDS9622.1	0	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170292	0.38315	2.27E-4	0.0	ENSG00000092295	ENST00000206765	D	0.88664	-2.41	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.048812	0.85682	D	0.000000	T	0.76176	0.3951	N	0.11870	0.19	0.80722	D	1	D	0.59357	0.985	B	0.39660	0.306	T	0.76041	-0.3104	10	0.10111	T	0.7	-19.3187	13.7621	0.62973	0.0:0.8458:0.1542:0.0	.	280	P22735	TGM1_HUMAN	K	280	ENSP00000206765:E280K	ENSP00000206765:E280K	E	-	1	0	0	TGM1	23799024	23799024	0.001000	0.12720	0.967000	0.41034	0.969000	0.65631	0.709000	0.25734	2.800000	0.96347	0.650000	0.86243	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.086653	1	0.170000	NM_000359			15	15		349	340	0		1			0	0	89	0		9.998538e-01	0	0	0	0	0	0	15	349
TGM1	7051	broad.mit.edu	37	14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	113					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592																																						ENST00000206765.6	1.000000	0.650000	1	7.700000e-01	0.910000	0.898978	0.910000	1.000000																										0				24						c.(337-339)aaC>aaG		transglutaminase 1	L-Glutamine(DB00130)						100.0	92.0	95.0					14																	24731070		2203	4300	6503	SO:0001583	missense	7051	0	0					g.chr14:24731070G>C	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.339C>G	chr14.hg19:g.24731070G>C	ENSP00000206765:p.Asn113Lys	0					TGM1_ENST00000544573.1_Intron	p.N113K	NM_000359.2	NP_000350.1	0	1	1	1.986586	P22735	TGM1_HUMAN		3	462	-			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	1	1	hg19	c.339C>G	CCDS9622.1	1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474567	0.12521	.	.	ENSG00000092295	ENST00000206765	D	0.83673	-1.75	5.29	-10.6	0.00265	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.720818	0.13927	N	0.353165	T	0.51126	0.1656	N	0.04880	-0.145	0.26576	N	0.973466	B	0.02656	0.0	B	0.08055	0.003	T	0.49698	-0.8912	10	0.06891	T	0.86	-1.3594	7.4068	0.26995	0.6273:0.1535:0.1418:0.0774	.	113	P22735	TGM1_HUMAN	K	113	ENSP00000206765:N113K	ENSP00000206765:N113K	N	-	3	2	2	TGM1	23800910	23800910	0.000000	0.05858	0.023000	0.16930	0.131000	0.20780	-3.860000	0.00348	-3.021000	0.00269	-1.036000	0.02392	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.221883	1	0.170000	NM_000359			36	35		423	416	0		1			0	0	97	0		1	0	0	0	0	0	0	36	423
DHRS1	115817	broad.mit.edu	37	14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V|NOP9_ENST00000267425.3_5'Flank|NOP9_ENST00000396802.3_5'Flank	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	48						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557																																						ENST00000288111.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999836	0.990000	1.000000																										0				6						c.(142-144)gCt>gTt		dehydrogenase/reductase (SDR family) member 1							59.0	57.0	58.0					14																	24768170		2203	4300	6503	SO:0001583	missense	115817	0	0					g.chr14:24768170G>A	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.143C>T	chr14.hg19:g.24768170G>A	ENSP00000288111:p.Ala48Val	0					DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V|NOP9_ENST00000267425.3_5'Flank|NOP9_ENST00000396802.3_5'Flank	p.A48V	NM_001136050.2	NP_001129522.1	0	1	1	1.986586	Q96LJ7	DHRS1_HUMAN		2	419	-			D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	1	1	hg19	c.143C>T	CCDS9623.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781515	0.90282	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87179	-2.22;-2.22	5.15	5.15	0.70609	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	N	0.21194	0.64	0.80722	D	1	P	0.39717	0.684	P	0.45712	0.491	D	0.84989	0.0893	10	0.62326	D	0.03	-11.7277	13.9863	0.64337	0.0:0.0:1.0:0.0	.	48	Q96LJ7	DHRS1_HUMAN	V	48	ENSP00000288111:A48V;ENSP00000380027:A48V	ENSP00000288111:A48V	A	-	2	0	0	DHRS1	23838010	23838010	1.000000	0.71417	0.934000	0.37439	0.792000	0.44763	6.199000	0.72112	2.675000	0.91044	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_138452			40	37		262	259	1		1	1		0	0	81	0		1	9.999976e-01	0	52	0	79	0	40	262
LTB4R2	56413	broad.mit.edu	37	14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R_ENST00000345363.3_5'UTR|CIDEB_ENST00000336557.5_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	350					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677																																						ENST00000528054.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(1048-1050)cGc>cAc		leukotriene B4 receptor 2							33.0	43.0	40.0					14																	24780826		2194	4289	6483	SO:0001583	missense	56413	0	0					g.chr14:24780826G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1049G>A	chr14.hg19:g.24780826G>A	ENSP00000432146:p.Arg350His	0					CIDEB_ENST00000336557.5_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H	p.R350H			0	1	1	1.986586	Q9NPC1	LT4R2_HUMAN		1	2666	+			Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	1	1	hg19	c.1049G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738029	0.69304	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.36	4.81	3.91	0.45181	4.81	3.91	0.45181	.	0.431407	0.21050	U	0.081007	T	0.48554	0.1506	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.14023	0.01	T	0.43130	-0.9410	10	0.48119	T	0.1	.	7.7868	0.29097	0.1924:0.0:0.8076:0.0	.	350	Q9NPC1	LT4R2_HUMAN	H	350;319;319;319	ENSP00000432146:R350H;ENSP00000433290:R319H;ENSP00000445772:R319H;ENSP00000434760:R319H	ENSP00000337731:R350H	R	+	2	0	0	LTB4R2	23850666	23850666	0.074000	0.21230	0.995000	0.50966	0.972000	0.66771	0.866000	0.27954	1.015000	0.39444	0.591000	0.81541	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-5.344328	1	0.170000				129	127		394	388	1		1	0		0	0	78	0		1	6.143534e-02	0	0	0	2	0	129	394
RIPK3	11035	broad.mit.edu	37	14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	ADCY4_ENST00000310677.4_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D|ADCY4_ENST00000418030.2_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	428	Pro-rich.				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)			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)		TGCCTTGTCTCTCAGCCCCCT	0.557																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1282-1284)gaG>gaT		receptor-interacting serine-threonine kinase 3							114.0	107.0	109.0					14																	24806143		2203	4300	6503	SO:0001583	missense	11035	0	0					g.chr14:24806143C>A	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.1284G>T	chr14.hg19:g.24806143C>A	ENSP00000216274:p.Glu428Asp	0					ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000554068.2_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D|ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank	p.E428D	NM_006871.3	NP_006862.2	0	1	1	1.986586	Q9Y572	RIPK3_HUMAN		9	1502	-			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	1	1	hg19	c.1284G>T	CCDS9628.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007385|2.007385	0.35415|0.35415	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.44482|.	0.92|.	4.49|4.49	2.61|2.61	0.31194|0.31194	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	1.079420|.	0.07158|.	N|.	0.850264|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.037;0.046|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.02654|.	T|.	1|.	-1.3913|-1.3913	5.6008|5.6008	0.17353|0.17353	0.0:0.6885:0.2021:0.1094|0.0:0.6885:0.2021:0.1094	.|.	102;428|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	D|I	102;428|109	ENSP00000216274:E428D|.	ENSP00000216274:E428D|.	E|R	-|-	3|2	2|0	2|0	RIPK3;RP11-934B9.3|RIPK3	23875983|23875983	23875983|23875983	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.113000|0.113000	0.19764|0.19764	-0.998000|-0.998000	0.03701|0.03701	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GAG|AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-3.387172	1	0.170000	NM_006871			93	88		395	389	1		1	1		0	0	110	0		1	9.999997e-01	0	45	0	47	0	93	395
RIPK3	11035	broad.mit.edu	37	14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	58	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)			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)		GACCTCCCTGGATATCGCCTT	0.587																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(172-174)tCc>tAc		receptor-interacting serine-threonine kinase 3							88.0	77.0	80.0					14																	24808519		2203	4300	6503	SO:0001583	missense	11035	0	0					g.chr14:24808519G>T	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.173C>A	chr14.hg19:g.24808519G>T	ENSP00000216274:p.Ser58Tyr	0					RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	p.S58Y	NM_006871.3	NP_006862.2	0	1	1	1.986586	Q9Y572	RIPK3_HUMAN		3	391	-			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	1	1	hg19	c.173C>A	CCDS9628.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728327	0.48833	.	.	ENSG00000129465	ENST00000216274	T	0.66815	-0.23	4.69	2.85	0.33270	4.69	2.85	0.33270	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592034	0.15399	N	0.264383	T	0.67924	0.2945	L	0.48260	1.515	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.879;0.996	T	0.57573	-0.7788	10	0.02654	T	1	-5.91	6.448	0.21887	0.099:0.1844:0.7166:0.0	.	58;58	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Y	58	ENSP00000216274:S58Y	ENSP00000216274:S58Y	S	-	2	0	0	RIPK3	23878359	23878359	0.016000	0.18221	0.040000	0.18447	0.098000	0.18820	0.190000	0.17057	0.701000	0.31803	-0.304000	0.09214	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_006871			107	106		441	437	1		1	1		0	0	106	0		1	9.999977e-01	0	15	0	63	0	107	441
NFATC4	4776	broad.mit.edu	37	14	24838944	24838944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	ENST00000250373.4	+	2	481	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P177S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	114	Calcineurin-binding.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCGAGTGTCCCAGCATCCG	0.687																																						ENST00000250373.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				34						c.(340-342)Ccc>Tcc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							13.0	15.0	14.0					14																	24838944		2192	4262	6454	SO:0001583	missense	4776	0	0					g.chr14:24838944C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.340C>T	chr14.hg19:g.24838944C>T	ENSP00000250373:p.Pro114Ser	0					NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S	p.P114S	NM_004554.4	NP_004545.2	0	1	1	1.986586	Q14934	NFAC4_HUMAN		2	481	+			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	1	1	hg19	c.340C>T	CCDS9629.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028917	0.75504	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	3.48	3.48	0.39840	3.48	3.48	0.39840	.	0.000000	0.53938	D	0.000055	T	0.32585	0.0834	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;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	0.83275	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.994;0.996;0.992	T	0.09314	-1.0680	10	0.87932	D	0	-4.9353	12.5733	0.56349	0.0:1.0:0.0:0.0	.	102;102;146;146;127;127;127;177;177;102;146;91;177;114	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	177;177;127;127;127;146;146;146;114;114;114;114;91;44;44;44;102;44;102;102	ENSP00000388910:P177S;ENSP00000452039:P177S;ENSP00000451224:P127S;ENSP00000450644:P127S;ENSP00000388668:P127S;ENSP00000439350:P146S;ENSP00000452270:P146S;ENSP00000451502:P146S;ENSP00000451151:P114S;ENSP00000451853:P114S;ENSP00000250373:P114S;ENSP00000450590:P114S;ENSP00000452352:P91S;ENSP00000452349:P44S;ENSP00000450469:P44S;ENSP00000450733:P44S;ENSP00000451454:P102S;ENSP00000451284:P44S;ENSP00000396788:P102S;ENSP00000450686:P102S	ENSP00000250373:P114S	P	+	1	0	0	NFATC4	23908784	23908784	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.886000	0.75611	1.797000	0.52628	0.558000	0.71614	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_004554			28	27		122	119	0		1	1		0	0	14	0		1	9.387224e-01	0	3	0	20	0	28	122
NFATC4	4776	broad.mit.edu	37	14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000250373.4	+	2	613	c.472G>A	c.(472-474)Gca>Aca	p.A158T	NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000413692.2_Missense_Mutation_p.A221T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	158	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667																																						ENST00000250373.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998790	0.990000	1.000000																										0				34						c.(472-474)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							8.0	10.0	9.0					14																	24839076		2120	4234	6354	SO:0001583	missense	4776	0	0					g.chr14:24839076G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.472G>A	chr14.hg19:g.24839076G>A	ENSP00000250373:p.Ala158Thr	0					NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000413692.2_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T	p.A158T	NM_004554.4	NP_004545.2	0	1	1	1.986586	Q14934	NFAC4_HUMAN		2	613	+			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	1	1	hg19	c.472G>A	CCDS9629.1	1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171899	0.21704	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.8	2.91	0.33838	3.8	2.91	0.33838	.	0.397445	0.18366	N	0.143422	T	0.09905	0.0243	N	0.14661	0.345	0.42755	D	0.993781	P;B;P;B;P;P;P;B;B;B;B;B;B;P	0.50528	0.936;0.0;0.936;0.0;0.936;0.936;0.936;0.0;0.0;0.0;0.0;0.0;0.0;0.895	P;B;P;B;P;P;P;B;B;B;B;B;B;B	0.44477	0.451;0.001;0.451;0.001;0.451;0.451;0.451;0.001;0.001;0.001;0.001;0.001;0.001;0.264	T	0.18178	-1.0345	10	0.38643	T	0.18	-3.8362	5.22	0.15364	0.1177:0.2108:0.6714:0.0	.	146;146;190;190;171;171;171;221;221;146;190;135;221;158	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	221;221;171;171;171;190;190;190;158;158;158;135;88;88;88;146;88;146;146	ENSP00000388910:A221T;ENSP00000452039:A221T;ENSP00000451224:A171T;ENSP00000450644:A171T;ENSP00000388668:A171T;ENSP00000439350:A190T;ENSP00000452270:A190T;ENSP00000451502:A190T;ENSP00000451151:A158T;ENSP00000250373:A158T;ENSP00000450590:A158T;ENSP00000452352:A135T;ENSP00000452349:A88T;ENSP00000450469:A88T;ENSP00000450733:A88T;ENSP00000451454:A146T;ENSP00000451284:A88T;ENSP00000396788:A146T;ENSP00000450686:A146T	ENSP00000250373:A158T	A	+	1	0	0	NFATC4	23908916	23908916	1.000000	0.71417	0.915000	0.36163	0.688000	0.40055	1.570000	0.36439	0.804000	0.34136	0.467000	0.42956	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_004554			16	16		85	84	0		1	1		0	0	30	0		9.999552e-01	8.593162e-01	0	3	0	18	0	16	85
NFATC4	4776	broad.mit.edu	37	14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A	rs374808156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000250373.4	+	5	1813	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000413692.2_Missense_Mutation_p.V621M	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	558	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592																																						ENST00000250373.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1672-1674)Gtg>Atg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							81.0	74.0	77.0					14																	24843013		2203	4300	6503	SO:0001583	missense	4776	0	0					g.chr14:24843013G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1672G>A	chr14.hg19:g.24843013G>A	ENSP00000250373:p.Val558Met	0					NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000413692.2_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M	p.V558M	NM_004554.4	NP_004545.2	0	1	1	1.986586	Q14934	NFAC4_HUMAN		5	1813	+			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	1	1	hg19	c.1672G>A	CCDS9629.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939180	0.73557	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.99	4.99	0.66335	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.070256	0.56097	D	0.000027	T	0.59918	0.2229	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.70716	0.822;0.934;0.95;0.934;0.95;0.966;0.934;0.934;0.934;0.934;0.95;0.966;0.966;0.95;0.97	T	0.62685	-0.6802	10	0.87932	D	0	-5.9858	15.8129	0.78578	0.0:0.0:1.0:0.0	.	546;546;590;590;571;571;571;621;621;546;488;590;535;621;558	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	M	621;621;571;571;571;590;590;590;558;558;558;488;488;488;546;488;546;546;93;93;93	ENSP00000388910:V621M;ENSP00000452039:V621M;ENSP00000451224:V571M;ENSP00000450644:V571M;ENSP00000388668:V571M;ENSP00000439350:V590M;ENSP00000452270:V590M;ENSP00000451502:V590M;ENSP00000451151:V558M;ENSP00000250373:V558M;ENSP00000450590:V558M;ENSP00000452349:V488M;ENSP00000450469:V488M;ENSP00000450733:V488M;ENSP00000451454:V546M;ENSP00000451284:V488M;ENSP00000396788:V546M;ENSP00000450686:V546M;ENSP00000450810:V93M;ENSP00000451183:V93M;ENSP00000451395:V93M	ENSP00000250373:V558M	V	+	1	0	0	NFATC4	23912853	23912853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	2.573000	0.86826	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1		2	2	2	0		0	0	62		62	59	1	2.060000	-20.000000	1	0.170000	NM_004554			100	96		351	345	1		1	1		0	0	62	0		1	9.992529e-01	0	3	0	37	0	100	351
NFATC4	4776	broad.mit.edu	37	14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000250373.4	+	6	1878	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000413692.2_Missense_Mutation_p.Q642H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	579	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647																																						ENST00000250373.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				34						c.(1735-1737)caG>caT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							32.0	28.0	29.0					14																	24843536		2203	4300	6503	SO:0001583	missense	4776	0	0					g.chr14:24843536G>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1737G>T	chr14.hg19:g.24843536G>T	ENSP00000250373:p.Gln579His	0					NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000413692.2_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H	p.Q579H	NM_004554.4	NP_004545.2	0	1	1	1.986586	Q14934	NFAC4_HUMAN		6	1878	+			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	1	1	hg19	c.1737G>T	CCDS9629.1	1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907924	0.72868	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.1	5.1	0.69264	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.991;0.994;0.991;0.996;0.991;0.982;0.996;0.996;0.996;0.996;0.982;0.991;0.96	T	0.73936	-0.3825	10	0.87932	D	0	-6.7569	9.4289	0.38597	0.0935:0.0:0.9065:0.0	.	567;567;611;611;592;592;592;642;642;567;611;642;579	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	642;642;592;592;592;611;611;611;579;579;579;509;509;509;567;509;567;567;114;114;114	ENSP00000388910:Q642H;ENSP00000452039:Q642H;ENSP00000451224:Q592H;ENSP00000450644:Q592H;ENSP00000388668:Q592H;ENSP00000439350:Q611H;ENSP00000452270:Q611H;ENSP00000451502:Q611H;ENSP00000451151:Q579H;ENSP00000250373:Q579H;ENSP00000450590:Q579H;ENSP00000452349:Q509H;ENSP00000450469:Q509H;ENSP00000450733:Q509H;ENSP00000451454:Q567H;ENSP00000451284:Q509H;ENSP00000396788:Q567H;ENSP00000450686:Q567H;ENSP00000450810:Q114H;ENSP00000451183:Q114H;ENSP00000451395:Q114H	ENSP00000250373:Q579H	Q	+	3	2	2	NFATC4	23913376	23913376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.629000	0.46485	2.644000	0.89710	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_004554			32	31		137	135	1		1	1		0	0	32	0		1	9.999711e-01	0	2	0	72	0	32	137
NYNRIN	57523	broad.mit.edu	37	14	24868646	24868646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24868646C>T	ENST00000382554.3	+	2	512	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	65					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						ATGGGCAAAGCCAAGGTAAAC	0.617																																						ENST00000382554.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996513	0.990000	1.000000																										0				56						c.(193-195)gCc>gTc		NYN domain and retroviral integrase containing							18.0	23.0	22.0					14																	24868646		1928	4126	6054	SO:0001583	missense	57523	0	0					g.chr14:24868646C>T	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.194C>T	chr14.hg19:g.24868646C>T	ENSP00000371994:p.Ala65Val	0						p.A65V	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		2	512	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	0	hg19	c.194C>T	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987209	0.93106	.	.	ENSG00000205978	ENST00000382554	T	0.37915	1.17	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.000000	0.33732	U	0.004607	T	0.59878	0.2226	M	0.77820	2.39	0.33606	D	0.603016	D	0.76494	0.999	D	0.75484	0.986	T	0.74228	-0.3733	10	0.87932	D	0	.	13.9118	0.63871	0.0:1.0:0.0:0.0	.	65	Q9P2P1	NYNRI_HUMAN	V	65	ENSP00000371994:A65V	ENSP00000371994:A65V	A	+	2	0	0	NYNRIN	23938486	23938486	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.676000	0.46883	2.129000	0.65627	0.313000	0.20887	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.998360	1	0.170000				13	13		73	71	0		1	1		0	0	22	0		9.996216e-01	9.258327e-01	0	4	0	24	0	13	73
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CCTGAAGGGCCTGTGCAGCCC	0.627																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(214-216)Ctg>Atg		NYN domain and retroviral integrase containing							68.0	72.0	71.0					14																	24877090		2031	4192	6223	SO:0001583	missense	57523	0	0					g.chr14:24877090C>A	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.214C>A	chr14.hg19:g.24877090C>A	ENSP00000371994:p.Leu72Met	0						p.L72M	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		3	532	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	1	hg19	c.214C>A	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	2	NYNRIN	23946930	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000				97	96		385	378	1		1	0		0	0	93	0		1	6.291247e-01	0	1	0	9	0	97	385
NYNRIN	57523	broad.mit.edu	37	14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						GCAGGAGGCAGCAAACCAGCT	0.542																																						ENST00000382554.3	1.000000	0.310000	9.000000e-01	4.600000e-01	0.650000	0.676067	0.650000	1.000000																										0				56						c.(841-843)Gca>Tca		NYN domain and retroviral integrase containing							14.0	16.0	15.0					14																	24877717		2112	4232	6344	SO:0001583	missense	57523	0	0					g.chr14:24877717G>T	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.841G>T	chr14.hg19:g.24877717G>T	ENSP00000371994:p.Ala281Ser	0						p.A281S	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		3	1159	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	0	1	hg19	c.841G>T	CCDS45090.1	0	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272766	0.05716	.	.	ENSG00000205978	ENST00000382554	T	0.15718	2.4	4.96	0.915	0.19366	4.96	0.915	0.19366	.	5.157060	0.00166	N	0.000013	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21449	-1.0245	10	0.33141	T	0.24	.	3.9295	0.09278	0.276:0.0:0.5574:0.1666	.	281	Q9P2P1	NYNRI_HUMAN	S	281	ENSP00000371994:A281S	ENSP00000371994:A281S	A	+	1	0	0	NYNRIN	23947557	23947557	0.000000	0.05858	0.107000	0.21349	0.066000	0.16364	0.447000	0.21710	0.258000	0.21686	-0.291000	0.09656	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-11.519260	1	0.170000				8	8		138	135	0		1	0		0	0	23	0		9.891134e-01	4.227249e-01	0	0	0	24	0	8	138
NYNRIN	57523	broad.mit.edu	37	14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	333					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						AGATAAACTCCTCTTCCAACC	0.592																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				56						c.(997-999)Ctc>Atc		NYN domain and retroviral integrase containing							55.0	61.0	59.0					14																	24877997		2092	4221	6313	SO:0001583	missense	57523	0	0					g.chr14:24877997C>A	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.997C>A	chr14.hg19:g.24877997C>A	ENSP00000371994:p.Leu333Ile	0						p.L333I	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		4	1315	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	1	hg19	c.997C>A	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.144986	0.09134	.	.	ENSG00000205978	ENST00000382554	T	0.09723	2.95	5.15	-0.429	0.12303	5.15	-0.429	0.12303	.	1.504540	0.04431	N	0.369299	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.39143	-0.9628	10	0.59425	D	0.04	.	4.3648	0.11220	0.0:0.3338:0.1908:0.4754	.	333	Q9P2P1	NYNRI_HUMAN	I	333	ENSP00000371994:L333I	ENSP00000371994:L333I	L	+	1	0	0	NYNRIN	23947837	23947837	0.000000	0.05858	0.177000	0.23020	0.115000	0.19883	0.005000	0.13129	0.024000	0.15214	-0.136000	0.14681	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000				28	28		156	152	1		1	0		0	0	28	0		1	5.247060e-01	0	0	0	11	0	28	156
NYNRIN	57523	broad.mit.edu	37	14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	384					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CTGGCTCCTGTCCCAGGCGTG	0.577																																						ENST00000382554.3	1.000000	0.740000	1	9.500000e-01	0.990000	0.974597	0.990000	1.000000																										0				56						c.(1150-1152)Tcc>Acc		NYN domain and retroviral integrase containing							32.0	32.0	32.0					14																	24878150		1911	4119	6030	SO:0001583	missense	57523	0	0					g.chr14:24878150T>A	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.1150T>A	chr14.hg19:g.24878150T>A	ENSP00000371994:p.Ser384Thr	0						p.S384T	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		4	1468	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	1	hg19	c.1150T>A	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961623	0.74016	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	5.36	4.21	0.49690	5.36	4.21	0.49690	.	1.265810	0.05502	N	0.558597	T	0.18551	0.0445	L	0.27053	0.805	0.23758	N	0.996923	D	0.55172	0.97	P	0.51833	0.681	T	0.23190	-1.0195	10	0.87932	D	0	.	8.6955	0.34293	0.0:0.0:0.2085:0.7915	.	384	Q9P2P1	NYNRI_HUMAN	T	384	ENSP00000371994:S384T	ENSP00000371994:S384T	S	+	1	0	0	NYNRIN	23947990	23947990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.587000	0.36622	2.246000	0.74042	0.533000	0.62120	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999990	1	0.170000				17	17		147	145	1		1	0		0	0	25	0		9.999711e-01	5.210590e-01	0	1	0	15	0	17	147
NYNRIN	57523	broad.mit.edu	37	14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	860					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CACTCGCTCAAGATGCTTTCA	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2578-2580)aAg>aCg		NYN domain and retroviral integrase containing							204.0	201.0	202.0					14																	24880593		2001	4171	6172	SO:0001583	missense	57523	0	0					g.chr14:24880593A>C	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.2579A>C	chr14.hg19:g.24880593A>C	ENSP00000371994:p.Lys860Thr	0		OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.K860T	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		6	2897	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	1	hg19	c.2579A>C	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000205978	ENST00000382554	T	0.44083	0.93	5.02	-0.0439	0.13857	5.02	-0.0439	0.13857	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.44603	0.1301	L	0.36672	1.1	0.25084	N	0.9909	D	0.54601	0.967	P	0.58620	0.842	T	0.33445	-0.9868	9	0.87932	D	0	.	7.177	0.25751	0.5853:0.0:0.4147:0.0	.	860	Q9P2P1	NYNRI_HUMAN	T	860	ENSP00000371994:K860T	ENSP00000371994:K860T	K	+	2	0	0	NYNRIN	23950433	23950433	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.414000	0.52693	0.069000	0.16605	0.383000	0.25322	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	254		254	251	1	2.060000	-20.000000	1	0.170000				214	210		884	859	1		1	1		0	0	254	0		1	9.616089e-01	0	3	0	21	0	214	884
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CCCTGGACATCGACCTCCTGC	0.652																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3160-3162)atC>atT		NYN domain and retroviral integrase containing							77.0	92.0	87.0					14																	24884117		2068	4200	6268	SO:0001819	synonymous_variant	57523	0	0					g.chr14:24884117C>T	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.3162C>T	chr14.hg19:g.24884117C>T		0						p.I1054I	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		9	3480	+			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	1	1	hg19	c.3162C>T	CCDS45090.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000				75	74		378	366	1		1	1		0	0	99	0		1	9.715364e-01	0	5	0	26	0	75	378
NYNRIN	57523	broad.mit.edu	37	14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T	rs374730919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1283					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						GGGGGAGAACCGCCTGCTCAC	0.612																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3847-3849)Cgc>Tgc		NYN domain and retroviral integrase containing		C	CYS/ARG	0,3992		0,0,1996	61.0	66.0	64.0		3847	4.0	0.8	14		64	1,8307		0,1,4153	no	missense	NYNRIN	NM_025081.2	180	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1283/1899	24884802	1,12299	1996	4154	6150	SO:0001583	missense	57523	6	120928	42				g.chr14:24884802C>T	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.3847C>T	chr14.hg19:g.24884802C>T	ENSP00000371994:p.Arg1283Cys	0						p.R1283C	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		9	4165	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	1	1	hg19	c.3847C>T	CCDS45090.1	1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214810	0.22373	0.0	1.2E-4	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.93	4.01	0.46588	4.93	4.01	0.46588	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.26087	-1.0113	9	0.48119	T	0.1	.	13.0809	0.59114	0.0:0.8251:0.1749:0.0	.	1283	Q9P2P1	NYNRI_HUMAN	C	1283	ENSP00000371994:R1283C	ENSP00000371994:R1283C	R	+	1	0	0	NYNRIN	23954642	23954642	0.996000	0.38824	0.775000	0.31657	0.428000	0.31595	3.095000	0.50235	2.551000	0.86045	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.280124	1	0.170000				106	103		481	473	1		1	0		0	0	90	0		1	6.668262e-01	0	1	0	11	0	106	481
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						AACTGTCTGGCTCCTCACCGT	0.552																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				56						c.(4507-4509)ggC>ggT		NYN domain and retroviral integrase containing							38.0	41.0	40.0					14																	24885464		2009	4170	6179	SO:0001819	synonymous_variant	57523	0	0					g.chr14:24885464C>T	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.4509C>T	chr14.hg19:g.24885464C>T		0						p.G1503G	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		9	4827	+			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	1	1	hg19	c.4509C>T	CCDS45090.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000				29	29		137	134	1		1	1		0	0	36	0		1	9.415073e-01	0	7	0	18	0	29	137
NYNRIN	57523	broad.mit.edu	37	14	24886379	24886379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1808					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CTGACAAGGCGAGTGAAAAGG	0.582																																						ENST00000382554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(5422-5424)gcG>gcA		NYN domain and retroviral integrase containing							72.0	80.0	78.0					14																	24886379		2041	4193	6234	SO:0001819	synonymous_variant	57523	4	121000	37				g.chr14:24886379G>A	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.5424G>A	chr14.hg19:g.24886379G>A		0						p.A1808A	NM_025081.2	NP_079357.2	0	1	1	1.986586	Q9P2P1	NYNRI_HUMAN		9	5742	+			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	1	1	hg19	c.5424G>A	CCDS45090.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.154547	1	0.170000				64	62		333	325	1		1	1		0	0	80	0		1	9.858753e-01	0	4	0	33	0	64	333
KHNYN	23351	broad.mit.edu	37	14	24900668	24900668	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000556842.1_Splice_Site|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Splice_Site|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.e3-1		KH and NYN domain containing							39.0	34.0	36.0					14																	24900668		2202	4298	6500	SO:0001630	splice_region_variant	23351	0	0					g.chr14:24900668G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.202-1G>T	chr14.hg19:g.24900668G>T		0		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Splice_Site|CBLN3_ENST00000267406.6_5'Flank				0	1	1	1.986586	O15037	KHNYN_HUMAN		3	340	+			Q86TZ6|Q8IUQ2|Q96BA9	Splice_Site	SNP	ENST00000251343.5	1	1	hg19		CCDS32058.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764467	0.31228	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	.	.	.	4.79	4.79	0.61399	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6797	0.77357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	KHNYN	23970508	23970508	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	7.234000	0.78134	2.383000	0.81215	0.563000	0.77884	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000		Intron		44	44		168	166	1		1	1		0	0	48	0		1	9.070715e-01	0	18	0	0	0	44	168
KHNYN	23351	broad.mit.edu	37	14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	306							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(916-918)Gcc>Acc		KH and NYN domain containing							82.0	86.0	85.0					14																	24901383		2203	4300	6503	SO:0001583	missense	23351	0	0					g.chr14:24901383G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.916G>A	chr14.hg19:g.24901383G>A	ENSP00000251343:p.Ala306Thr	0		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|CBLN3_ENST00000267406.6_5'Flank	p.A306T			0	1	1	1.986586	O15037	KHNYN_HUMAN		3	1055	+			Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	1	1	hg19	c.916G>A	CCDS32058.1	1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540476	0.13250	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.96	1.95	0.26073	4.96	1.95	0.26073	.	1.291830	0.04908	N	0.452731	T	0.14700	0.0355	L	0.27053	0.805	0.19775	N	0.99995	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	4.1275	0.10134	0.1963:0.0:0.6217:0.182	.	347;306	D3DS77;O15037	.;KHNYN_HUMAN	T	306	ENSP00000251343:A306T;ENSP00000451106:A306T;ENSP00000450799:A306T	ENSP00000251343:A306T	A	+	1	0	0	KHNYN	23971223	23971223	0.741000	0.28217	0.110000	0.21437	0.668000	0.39293	1.130000	0.31393	0.507000	0.28148	-0.448000	0.05591	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				46	46		177	171	1		1	1		0	0	39	0		1	9.981537e-01	0	7	0	33	0	46	177
CTSG	1511	broad.mit.edu	37	14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	66	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552																																						ENST00000216336.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(196-198)Tgg>Cgg		cathepsin G							86.0	79.0	81.0					14																	25044478		2203	4300	6503	SO:0001583	missense	1511	0	0					g.chr14:25044478A>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.196T>C	chr14.hg19:g.25044478A>G	ENSP00000216336:p.Trp66Arg	0						p.W66R	NM_001911.2	NP_001902.1	0	1	1	1.986586	P08311	CATG_HUMAN		2	232	-			Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	1	1	hg19	c.196T>C	CCDS9631.1	1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828653	0.16749	.	.	ENSG00000100448	ENST00000216336	D	0.88431	-2.38	5.38	-3.44	0.04796	5.38	-3.44	0.04796	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.520840	0.04420	N	0.367522	T	0.75925	0.3916	N	0.12746	0.255	0.20196	N	0.999921	B	0.13594	0.008	B	0.22880	0.042	T	0.61496	-0.7051	10	0.25106	T	0.35	.	3.8901	0.09114	0.3929:0.0:0.3384:0.2687	.	66	P08311	CATG_HUMAN	R	66	ENSP00000216336:W66R	ENSP00000216336:W66R	W	-	1	0	0	CTSG	24114318	24114318	0.024000	0.19004	0.030000	0.17652	0.954000	0.61252	0.034000	0.13776	-0.535000	0.06307	-0.333000	0.08304	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_001911			68	67		326	316	0		1	0		0	0	85	0		1	6.411055e-01	0	0	0	12	0	68	326
STXBP6	29091	broad.mit.edu	37	14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	179	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567																																						ENST00000323944.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(535-537)Cga>Tga		syntaxin binding protein 6 (amisyn)							184.0	157.0	166.0					14																	25288317		2203	4300	6503	SO:0001587	stop_gained	29091	1	121412	33				g.chr14:25288317G>A	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.535C>T	chr14.hg19:g.25288317G>A	ENSP00000324302:p.Arg179*	0					STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*	p.R179*			0	1	1	1.986586	Q8NFX7	STXB6_HUMAN		5	986	-			D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Nonsense_Mutation	SNP	ENST00000323944.5	0	1	hg19	c.535C>T	CCDS9634.1	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000043	0.54147	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	.	.	.	5.35	2.14	0.27477	5.35	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.9822	14.3759	0.66874	0.0:0.0:0.5902:0.4098	.	.	.	.	X	179;179;179;179;179;179;77;179	.	ENSP00000324302:R179X	R	-	1	2	2	STXBP6	24358157	24358157	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	2.682000	0.46934	0.236000	0.21180	-2.160000	0.00327	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-3.539099	1	0.170000				165	163		677	670	1		1	0		0	0	135	0		1	1	0	1	0	174	0	165	677
NOVA1	4857	broad.mit.edu	37	14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	469	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)		ATTCCTTGTGCCAGGTACGAA	0.443																																						ENST00000539517.2	1.000000	0.490000	1	6.600000e-01	0.850000	0.839402	0.850000	1.000000																										0				40						c.(1396-1398)gGc>gAc		neuro-oncological ventral antigen 1							164.0	135.0	145.0					14																	26917292		2203	4300	6503	SO:0001583	missense	4857	0	0					g.chr14:26917292C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1397G>A	chr14.hg19:g.26917292C>T	ENSP00000438875:p.Gly466Asp	0					NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D	p.G466D	NM_002515.2	NP_002506.2	0	1	1	1.986586	P51513	NOVA1_HUMAN		5	1714	-			A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	1	1	hg19	c.1397G>A	CCDS32061.1	1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175514	0.57692	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.57;1.57;1.57	5.92	5.92	0.95590	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	M	0.82193	2.58	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.999	D;D;D	0.87578	0.998;0.988;0.991	T	0.64166	-0.6471	10	0.62326	D	0.03	-22.96	20.3151	0.98650	0.0:1.0:0.0:0.0	.	469;442;466	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	442;466;344	ENSP00000447391:G442D;ENSP00000438875:G466D;ENSP00000267422:G344D	ENSP00000267422:G344D	G	-	2	0	0	NOVA1	25987132	25987132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-18.656730	1	0.170000	NM_006491			14	14		178	175	0		1			0	0	39	0		9.997647e-01	0	0	0	0	0	0	14	178
NOVA1	4857	broad.mit.edu	37	14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000547619.1	-	4	579	c.521T>G	c.(520-522)gTa>gGa	p.V174G	NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site|NOVA1_ENST00000267422.7_Splice_Site			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	177	KH 2. {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)			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)		ATGATACTGTACCTGATTAGC	0.453																																						ENST00000547619.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999856	0.990000	1.000000																										0				40						c.(520-522)gTa>gGa		neuro-oncological ventral antigen 1							227.0	184.0	199.0					14																	26941524		2203	4300	6503	SO:0001583	missense	4857	0	0					g.chr14:26941524A>C	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	ENST00000547619.1:c.521T>G	chr14.hg19:g.26941524A>C	ENSP00000448157:p.Val174Gly	0					NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site	p.V174G			0	1	1	1.986586	P51513	NOVA1_HUMAN		4	579	-			A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000547619.1	1	0	hg19	c.521T>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746807|3.746807	0.69418|0.69418	.|.	.|.	ENSG00000139910|ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429|ENST00000547619	.|T	.|0.48522	.|0.81	5.92|5.92	5.92|5.92	0.95590|0.95590	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66396	.|0.2785	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70044	.|-0.4980	.|6	.|0.87932	.|D	.|0	.|.	16.3782|16.3782	0.83418|0.83418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|174	.|ENSP00000448157:V174G	.|ENSP00000448157:V174G	.|V	-|-	.|2	.|0	.|0	NOVA1|NOVA1	26011364|26011364	26011364|26011364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.165000|7.165000	0.77544|0.77544	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	.|GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NOVA1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000408504.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_006491			22	22		108	103	0		1			0	0	22	0		9.999990e-01	0	0	0	0	0	0	22	108
FOXG1	2290	broad.mit.edu	37	14	29236501	29236501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	ENST00000313071.4	+	1	215	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.D6N	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	6					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)			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)		GGACATGGGAGATAGGAAAGA	0.682																																						ENST00000313071.4	1.000000	0.630000	1	9.400000e-01	0.990000	0.963806	0.990000	1.000000																										0				43						c.(16-18)Gat>Aat		forkhead box G1							38.0	33.0	35.0					14																	29236501		2197	4294	6491	SO:0001583	missense	2290	0	0					g.chr14:29236501G>A		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.16G>A	chr14.hg19:g.29236501G>A	ENSP00000339004:p.Asp6Asn	0					FOXG1_ENST00000382535.3_Missense_Mutation_p.D6N|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	p.D6N	NM_005249.4	NP_005240.3	0	1	1	1.986586	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	1	215	+			A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	0	1	hg19	c.16G>A	CCDS9636.1	1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94828	-3.53;-3.53	1.99	1.0	0.19881	1.99	1.0	0.19881	.	.	.	.	.	D	0.89259	0.6664	L	0.27053	0.805	0.27461	N	0.953154	B	0.28026	0.198	B	0.29862	0.108	T	0.81780	-0.0776	9	0.72032	D	0.01	.	9.1221	0.36793	0.0:0.0:0.7789:0.2211	.	6	P55316	FOXG1_HUMAN	N	6	ENSP00000371975:D6N;ENSP00000339004:D6N	ENSP00000339004:D6N	D	+	1	0	0	FOXG1	28306252	28306252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.340000	0.59328	0.129000	0.18514	-0.553000	0.04205	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	0	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-13.971090	1	0.170000				7	7		51	48	0		1			0	0	14	0		9.792454e-01	0	0	0	0	0	0	7	51
FOXG1	2290	broad.mit.edu	37	14	29236593	29236593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000313071.4	+	1	307	c.108C>T	c.(106-108)agC>agT	p.S36S	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.S36S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	36	His-rich.				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)			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)		ACCACGCGAGCCACGGccacc	0.667																																						ENST00000313071.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999572	0.990000	1.000000																										0				43						c.(106-108)agC>agT		forkhead box G1							37.0	39.0	38.0					14																	29236593		2111	4165	6276	SO:0001819	synonymous_variant	2290	0	0					g.chr14:29236593C>T		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.108C>T	chr14.hg19:g.29236593C>T		0					FOXG1_ENST00000382535.3_Silent_p.S36S|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	p.S36S	NM_005249.4	NP_005240.3	0	1	1	1.986586	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	1	307	+			A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	1	1	hg19	c.108C>T	CCDS9636.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	1	0	0		2	2	2	0		0	0	16		16	9	1	2.060000	-20.000000	1	0.170000				14	13		55	47	0		1			0	0	16	0		9.996233e-01	0	0	0	0	0	0	14	55
FOXG1	2290	broad.mit.edu	37	14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000313071.4	+	1	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					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)			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)		CCTCACGGCCGCCGCGCTAGC	0.701																																						ENST00000313071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1144-1146)Gcc>Acc		forkhead box G1							41.0	36.0	38.0					14																	29237629		2202	4297	6499	SO:0001583	missense	2290	0	0					g.chr14:29237629G>A		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.1144G>A	chr14.hg19:g.29237629G>A	ENSP00000339004:p.Ala382Thr	0					FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	p.A382T	NM_005249.4	NP_005240.3	0	1	1	1.986586	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	1	1343	+			A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	1	1	hg19	c.1144G>A	CCDS9636.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886739	0.33348	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.88533	0.6462	N	0.19112	0.55	0.53005	D	0.999967	D	0.57899	0.981	B	0.44315	0.446	D	0.87944	0.2719	10	0.28530	T	0.3	.	16.9273	0.86180	0.0:0.0:1.0:0.0	.	382	P55316	FOXG1_HUMAN	T	382	ENSP00000371975:A382T;ENSP00000339004:A382T	ENSP00000339004:A382T	A	+	1	0	0	FOXG1	28307380	28307380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.678000	0.98647	2.042000	0.60477	0.491000	0.48974	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				81	80		265	260	1		1			0	0	45	0		1	0	0	0	0	0	0	81	265
PRKD1	5587	broad.mit.edu	37	14	30107904	30107904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.C309C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	301					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)			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)		CCTTACCTTTGCACTGCAAGC	0.458																																						ENST00000331968.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(901-903)tgC>tgT		protein kinase D1							56.0	51.0	53.0					14																	30107904		2203	4300	6503	SO:0001819	synonymous_variant	5587	0	0					g.chr14:30107904G>A		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.903C>T	chr14.hg19:g.30107904G>A		0					PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.C309C	p.C301C	NM_002742.2	NP_002733.2	0	1	1	1.986586	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	5	1132	-	Hepatocellular(127;0.0604)		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	1	1	hg19	c.903C>T	CCDS9637.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	1	0	0		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_002742			36	35		151	150	1		1	1		0	0	37	0		1	9.799041e-01	0	3	0	26	0	36	151
PRKD1	5587	broad.mit.edu	37	14	30107919	30107919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R304R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	296					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)			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)		GCAAGCCCTGCCTGAAAAGCC	0.458																																						ENST00000331968.5	0.840000	0.220000	6.600000e-01	3.300000e-01	0.480000	0.505972	0.480000	0.460000																										0				78						c.(886-888)agG>agA		protein kinase D1							59.0	54.0	56.0					14																	30107919		2203	4300	6503	SO:0001819	synonymous_variant	5587	0	0					g.chr14:30107919C>T		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.888G>A	chr14.hg19:g.30107919C>T		0					PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R304R	p.R296R	NM_002742.2	NP_002733.2	0	1	1	1.986586	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	5	1117	-	Hepatocellular(127;0.0604)		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	1	1	hg19	c.888G>A	CCDS9637.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	0	0	0		2	2	2	0		0	0	42		42	41	1	2.060000	-10.251310	1	0.170000	NM_002742			8	8		193	191	0		1	0		0	0	42	0		9.893735e-01	4.497551e-01	0	1	0	34	0	8	193
G2E3	55632	broad.mit.edu	37	14	31077197	31077197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000438909.2_Silent_p.C428C|G2E3_ENST00000553504.1_Silent_p.C504C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	474	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368																																						ENST00000206595.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1420-1422)tgC>tgT		G2/M-phase specific E3 ubiquitin protein ligase							135.0	123.0	127.0					14																	31077197		2203	4300	6503	SO:0001819	synonymous_variant	55632	0	0					g.chr14:31077197C>T	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.1422C>T	chr14.hg19:g.31077197C>T		0					G2E3_ENST00000438909.2_Silent_p.C428C|G2E3_ENST00000553504.1_Silent_p.C504C	p.C474C	NM_017769.3	NP_060239.2	0	1	1	1.986586	Q7L622	G2E3_HUMAN		12	1576	+			Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	1	1	hg19	c.1422C>T	CCDS9638.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	1	0	1		18	2	2	0		0	1	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_017769			80	80		413	402	1		1	1		0	0	90	0		1	9.973042e-01	0	19	0	29	0	80	413
G2E3	55632	broad.mit.edu	37	14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000438909.2_Missense_Mutation_p.T631I|G2E3_ENST00000553504.1_Missense_Mutation_p.T707I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	677	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353																																						ENST00000206595.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				23						c.(2029-2031)aCa>aTa		G2/M-phase specific E3 ubiquitin protein ligase							60.0	57.0	58.0					14																	31085649		2202	4300	6502	SO:0001583	missense	55632	0	0					g.chr14:31085649C>T	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.2030C>T	chr14.hg19:g.31085649C>T	ENSP00000206595:p.Thr677Ile	0					G2E3_ENST00000438909.2_Missense_Mutation_p.T631I|G2E3_ENST00000553504.1_Missense_Mutation_p.T707I	p.T677I	NM_017769.3	NP_060239.2	0	1	1	1.986586	Q7L622	G2E3_HUMAN		15	2184	+			Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	1	1	hg19	c.2030C>T	CCDS9638.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961191	0.74016	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.51325	0.71;0.71;0.71	5.8	5.8	0.92144	5.8	5.8	0.92144	HECT (3);	0.207572	0.50627	D	0.000104	T	0.67748	0.2926	M	0.69823	2.125	0.41583	D	0.988754	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.70400	-0.4882	10	0.87932	D	0	-14.5557	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	189;677	Q49AD9;Q7L622	.;G2E3_HUMAN	I	677;631;707	ENSP00000206595:T677I;ENSP00000391068:T631I;ENSP00000451653:T707I	ENSP00000206595:T677I	T	+	2	0	0	G2E3	30155400	30155400	0.070000	0.21116	0.997000	0.53966	0.850000	0.48378	2.887000	0.48586	2.736000	0.93811	0.591000	0.81541	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-16.860620	1	0.170000	NM_017769			30	28		159	157	1		1	1		0	0	45	0		1	9.956031e-01	0	20	0	28	0	30	159
SCFD1	23256	broad.mit.edu	37	14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G|SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	226					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294																																						ENST00000458591.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(676-678)gAc>gGc		sec1 family domain containing 1							45.0	50.0	49.0					14																	31119778		2203	4292	6495	SO:0001583	missense	23256	0	0					g.chr14:31119778A>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.677A>G	chr14.hg19:g.31119778A>G	ENSP00000390783:p.Asp226Gly	0					SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G	p.D226G	NM_016106.3	NP_057190.2	0	1	1	1.986586	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	9	904	+	Hepatocellular(127;0.0877)		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	1	1	hg19	c.677A>G	CCDS9639.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383097	0.82792	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.82193	2.58	0.80722	D	1	P;D;D;D	0.89917	0.888;1.0;1.0;1.0	P;D;D;D	0.80764	0.83;0.989;0.994;0.989	D	0.90252	0.4294	10	0.87932	D	0	-12.2595	15.1704	0.72869	1.0:0.0:0.0:0.0	.	167;159;134;226	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	226;159;167;41;67;134;81	ENSP00000390783:D226G;ENSP00000443010:D159G;ENSP00000388078:D167G;ENSP00000443537:D41G;ENSP00000452308:D67G;ENSP00000379870:D134G;ENSP00000452448:D81G	ENSP00000309417:D234G	D	+	2	0	0	SCFD1	30189529	30189529	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.600000	0.90860	2.180000	0.69256	0.533000	0.62120	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-19.890550	1	0.170000	NM_182835			35	35		155	150	1		1	1		0	0	49	0		1	1	0	70	0	201	0	35	155
SCFD1	23256	broad.mit.edu	37	14	31144232	31144232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000421551.3_Silent_p.L342L|SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000541123.1_Silent_p.L216L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	401					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299																																						ENST00000458591.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(1201-1203)ctC>ctT		sec1 family domain containing 1							72.0	73.0	72.0					14																	31144232		2203	4298	6501	SO:0001819	synonymous_variant	23256	0	0					g.chr14:31144232C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1203C>T	chr14.hg19:g.31144232C>T		0					SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000421551.3_Silent_p.L342L	p.L401L	NM_016106.3	NP_057190.2	0	1	1	1.986586	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	14	1430	+	Hepatocellular(127;0.0877)		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	1	1	hg19	c.1203C>T	CCDS9639.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-3.029936	1	0.170000	NM_182835			49	49		264	259	1		1	1		0	0	76	0		1	1	0	44	0	116	0	49	264
COCH	1690	broad.mit.edu	37	14	31348032	31348032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000396618.3	+	5	311	c.255C>T	c.(253-255)aaC>aaT	p.N85N	COCH_ENST00000382493.4_5'Flank|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	85	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				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)				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)		TAATCAGCAACTCAGGGGGAC	0.458																																						ENST00000396618.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				19						c.(253-255)aaC>aaT		cochlin							103.0	91.0	95.0					14																	31348032		2203	4300	6503	SO:0001819	synonymous_variant	1690	0	0					g.chr14:31348032C>T		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.255C>T	chr14.hg19:g.31348032C>T		0					COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000475087.1_Silent_p.N85N|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_5'Flank	p.N85N	NM_004086.2	NP_004077.1	0	1	1	1.986586	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	5	311	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	1	1	hg19	c.255C>T	CCDS9640.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004086			45	43		267	261	1		1	1		0	0	57	0		1	7.555089e-01	0	3	0	15	0	45	267
COCH	1690	broad.mit.edu	37	14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000396618.3	+	11	1177	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	COCH_ENST00000382493.4_Missense_Mutation_p.G225V|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|COCH_ENST00000460581.2_Missense_Mutation_p.G262V	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	374	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				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)		CTAATTGATGGCTCCAGCAGT	0.423																																						ENST00000396618.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1120-1122)gGc>gTc		cochlin							101.0	86.0	91.0					14																	31355162		2203	4300	6503	SO:0001583	missense	1690	0	0					g.chr14:31355162G>T		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.1121G>T	chr14.hg19:g.31355162G>T	ENSP00000379862:p.Gly374Val	0					COCH_ENST00000460581.2_Missense_Mutation_p.G262V|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.G225V|RP11-829H16.3_ENST00000556786.1_RNA	p.G374V	NM_004086.2	NP_004077.1	0	1	1	1.986586	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	11	1177	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	1	1	hg19	c.1121G>T	CCDS9640.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713168|4.713168	0.89112|0.89112	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	.|D;D;D;D;D	.|0.84370	.|-1.84;-1.84;-1.84;-1.84;-1.84	6.02|6.02	6.02|6.02	0.97574|0.97574	6.02|6.02	6.02|6.02	0.97574|0.97574	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94690|0.94690	0.7873|0.7873	5|10	.|0.87932	.|D	.|0	-14.0876|-14.0876	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;374;374	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	S|V	258|374;374;374;262;225	.|ENSP00000216361:G374V;ENSP00000379862:G374V;ENSP00000451528:G374V;ENSP00000451713:G262V;ENSP00000371933:G225V	.|ENSP00000216361:G374V	A|G	+|+	1|2	0|0	0|0	COCH|COCH	30424913|30424913	30424913|30424913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.827000|9.827000	0.99397|0.99397	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_004086			55	55		296	292	1		1	1		0	0	54	0		1	7.699891e-01	0	4	0	13	0	55	296
COCH	1690	broad.mit.edu	37	14	31355352	31355352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355352C>A	ENST00000396618.3	+	11	1367	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	COCH_ENST00000382493.4_Silent_p.I288I|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000475087.1_Silent_p.I437I|COCH_ENST00000460581.2_Silent_p.I325I	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				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)		TCAGAAACATCCGCTATATGA	0.453																																						ENST00000396618.3	0.610000	0.230000	5.100000e-01	3.000000e-01	0.390000	0.411878	0.390000	0.390000																										0				19						c.(1309-1311)atC>atA		cochlin							152.0	127.0	135.0					14																	31355352		2203	4300	6503	SO:0001819	synonymous_variant	1690	0	0					g.chr14:31355352C>A		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.1311C>A	chr14.hg19:g.31355352C>A		0					COCH_ENST00000460581.2_Silent_p.I325I|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Silent_p.I288I|RP11-829H16.3_ENST00000556786.1_RNA	p.I437I	NM_004086.2	NP_004077.1	0	1	1	1.986586	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	11	1367	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	0	1	hg19	c.1311C>A	CCDS9640.1	0	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479494	0.44044	.	.	ENSG00000100473	ENST00000468826	.	.	.	5.89	1.97	0.26223	5.89	1.97	0.26223	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	-16.2163	6.53	0.22322	0.2206:0.5955:0.0:0.1839	.	.	.	.	Y	321	.	.	S	+	2	0	0	COCH	30425103	30425103	0.911000	0.30947	0.998000	0.56505	0.980000	0.70556	0.214000	0.17541	0.080000	0.16959	0.557000	0.71058	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.478125	1	0.170000	NM_004086			15	15		433	428	0		1	1		0	0	72	0		9.998651e-01	1.355062e-01	0	2	0	16	0	15	433
STRN3	29966	broad.mit.edu	37	14	31374730	31374730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000357479.5	-	15	2119	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	STRN3_ENST00000355683.5_Silent_p.G557G	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	641					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358																																						ENST00000357479.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1921-1923)ggC>ggA		striatin, calmodulin binding protein 3							109.0	100.0	103.0					14																	31374730		2203	4299	6502	SO:0001819	synonymous_variant	29966	0	0					g.chr14:31374730G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1923C>A	chr14.hg19:g.31374730G>T		0					STRN3_ENST00000355683.5_Silent_p.G557G	p.G641G	NM_001083893.1	NP_001077362.1	0	1	1	1.986586	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	15	2119	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	1	1	hg19	c.1923C>A	CCDS41938.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_014574			60	55		223	218	1		1	1		0	0	84	0		1	1	0	21	0	82	0	60	223
STRN3	29966	broad.mit.edu	37	14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000357479.5	-	5	790	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000355683.5_Missense_Mutation_p.Q198H	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	198					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358																																						ENST00000357479.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				20						c.(592-594)caG>caT		striatin, calmodulin binding protein 3							149.0	145.0	147.0					14																	31416418		2203	4300	6503	SO:0001583	missense	29966	0	0					g.chr14:31416418C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.594G>T	chr14.hg19:g.31416418C>A	ENSP00000350071:p.Gln198His	0					STRN3_ENST00000355683.5_Missense_Mutation_p.Q198H	p.Q198H	NM_001083893.1	NP_001077362.1	0	1	1	1.986586	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	5	790	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	1	1	hg19	c.594G>T	CCDS41938.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491504	0.44249	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.9	4.06	0.47325	5.9	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.51351	0.944;0.035	B;B	0.41202	0.35;0.028	T	0.78866	-0.2035	10	0.54805	T	0.06	0.5774	10.3793	0.44101	0.0:0.8053:0.0:0.1947	.	198;198	Q13033-2;Q13033	.;STRN3_HUMAN	H	198;198;79	ENSP00000347909:Q198H;ENSP00000350071:Q198H	ENSP00000347909:Q198H	Q	-	3	2	2	STRN3	30486169	30486169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	0.812000	0.34326	0.591000	0.81541	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-20.000000	1	0.170000	NM_014574			70	70		443	434	1		1	1		0	0	108	0		1	9.999722e-01	0	25	0	71	0	70	443
HECTD1	25831	broad.mit.edu	37	14	31576881	31576881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2170	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			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)		TGGGTCCCAAGCCAGTTCCTT	0.358																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(6508-6510)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 1							66.0	63.0	64.0					14																	31576881		1804	4071	5875	SO:0001819	synonymous_variant	25831	0	0					g.chr14:31576881G>A	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.6510C>T	chr14.hg19:g.31576881G>A		0					HECTD1_ENST00000553700.1_Silent_p.G2170G	p.G2170G	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	37	6998	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	1	1	hg19	c.6510C>T	CCDS41939.1	1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.390926	0.11581	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.4	0.363	0.16118	5.4	0.363	0.16118	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-7.9649	1.3289	0.02130	0.2089:0.1226:0.4159:0.2526	.	.	.	.	V	536	.	.	A	-	2	0	0	HECTD1	30646632	30646632	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.423000	0.21313	-0.210000	0.10140	-0.274000	0.10170	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				64	64		237	236	1		1	1		0	0	55	0		1	1	0	38	0	117	0	64	237
HECTD1	25831	broad.mit.edu	37	14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1626	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)			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)		TGATAAAACTGTTGTTGCTGT	0.423																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4876-4878)aCa>aTa		HECT domain containing E3 ubiquitin protein ligase 1							151.0	142.0	145.0					14																	31597095		1960	4157	6117	SO:0001583	missense	25831	0	0					g.chr14:31597095G>A	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.4877C>T	chr14.hg19:g.31597095G>A	ENSP00000382269:p.Thr1626Ile	0					HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	p.T1626I	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	26	5365	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	1	1	hg19	c.4877C>T	CCDS41939.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965877	0.53507	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.08282	3.11;3.11;3.11	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	U	0.000000	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.04976	-1.0914	10	0.26408	T	0.33	-11.9377	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1626;1626	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1626;1628;1626;1053	ENSP00000450697:T1626I;ENSP00000382269:T1626I;ENSP00000451860:T1053I	ENSP00000261312:T1628I	T	-	2	0	0	HECTD1	30666846	30666846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.845000	0.99498	2.873000	0.98535	0.561000	0.74099	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0	0	1		16	7	2	1		1	1	88		88	86	1	2.060000	-3.433845	1	0.170000				74	74		327	319	1		1	1		1	0	88	0		1	9.999846e-01	0	24	0	109	0	74	327
HECTD1	25831	broad.mit.edu	37	14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1529	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)			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)		TTGCACTAGAGCTCATAGGGG	0.453																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4585-4587)agC>agA		HECT domain containing E3 ubiquitin protein ligase 1							69.0	63.0	65.0					14																	31597990		1910	4126	6036	SO:0001583	missense	25831	0	0					g.chr14:31597990G>T	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.4587C>A	chr14.hg19:g.31597990G>T	ENSP00000382269:p.Ser1529Arg	0					HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	p.S1529R	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	25	5075	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	1	1	hg19	c.4587C>A	CCDS41939.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036545	0.35893	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.56103	0.85;0.85;0.48	6.16	5.28	0.74379	6.16	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.54853	-0.8231	10	0.40728	T	0.16	-7.3109	9.5157	0.39104	0.2074:0.0:0.7926:0.0	.	1529;1529	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1529;1531;1529;956	ENSP00000450697:S1529R;ENSP00000382269:S1529R;ENSP00000451860:S956R	ENSP00000261312:S1531R	S	-	3	2	2	HECTD1	30667741	30667741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	1.626000	0.50381	0.650000	0.86243	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				45	44		144	141	1		1	1		0	0	58	0		1	1	0	33	0	100	0	45	144
HECTD1	25831	broad.mit.edu	37	14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	735					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)			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)		AGATGGCTTTACTTGGCCTCG	0.363																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2203-2205)gTa>gCa		HECT domain containing E3 ubiquitin protein ligase 1							145.0	124.0	130.0					14																	31618318		1870	4105	5975	SO:0001583	missense	25831	0	0					g.chr14:31618318A>G	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.2204T>C	chr14.hg19:g.31618318A>G	ENSP00000382269:p.Val735Ala	0					HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	p.V735A	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	14	2692	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	1	1	hg19	c.2204T>C	CCDS41939.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717245	0.89205	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.71	5.71	0.89125	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.924	P;P	0.59424	0.675;0.857	T	0.12811	-1.0533	10	0.54805	T	0.06	-15.8141	15.9701	0.80008	1.0:0.0:0.0:0.0	.	735;735	D3DS86;Q9ULT8	.;HECD1_HUMAN	A	735;735;735;209;735	ENSP00000450697:V735A;ENSP00000382269:V735A;ENSP00000451860:V209A;ENSP00000452015:V735A	ENSP00000261312:V735A	V	-	2	0	0	HECTD1	30688069	30688069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.317000	0.96327	2.166000	0.68216	0.528000	0.53228	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				44	43		174	170	1		1	1		0	0	41	0		1	9.999997e-01	0	22	0	74	0	44	174
HECTD1	25831	broad.mit.edu	37	14	31641142	31641142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	419					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)			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)		TAACATCTGCACCTCTCTCAC	0.303																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				70						c.(1255-1257)ggT>ggC		HECT domain containing E3 ubiquitin protein ligase 1							98.0	91.0	93.0					14																	31641142		1829	4086	5915	SO:0001819	synonymous_variant	25831	0	0					g.chr14:31641142A>G	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.1257T>C	chr14.hg19:g.31641142A>G		0					HECTD1_ENST00000553700.1_Silent_p.G419G	p.G419G	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	8	1745	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	1	1	hg19	c.1257T>C	CCDS41939.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				38	37		180	175	0		1	1		0	0	35	0		1	9.998852e-01	0	17	0	52	0	38	180
HECTD1	25831	broad.mit.edu	37	14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	52					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)			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)		GGTAAGAAAGTGCGAGGAGGA	0.338																																						ENST00000399332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(154-156)Act>Gct		HECT domain containing E3 ubiquitin protein ligase 1							62.0	58.0	59.0					14																	31647447		1851	4087	5938	SO:0001583	missense	25831	0	0					g.chr14:31647447T>C	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.154A>G	chr14.hg19:g.31647447T>C	ENSP00000382269:p.Thr52Ala	0					HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	p.T52A	NM_015382.2	NP_056197.2	0	1	1	1.986586	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	3	642	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	1	1	hg19	c.154A>G	CCDS41939.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572636	0.86542	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.11	5.11	0.69529	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.82323	2.585	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.59590	-0.7426	10	0.42905	T	0.14	-15.7729	15.1789	0.72938	0.0:0.0:0.0:1.0	.	52	Q9ULT8	HECD1_HUMAN	A	52	ENSP00000450697:T52A;ENSP00000382269:T52A;ENSP00000452015:T52A	ENSP00000261312:T52A	T	-	1	0	0	HECTD1	30717198	30717198	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.655000	0.83696	2.047000	0.60756	0.397000	0.26171	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				54	54		255	253	0		1	1		0	0	55	0		1	9.999794e-01	0	15	0	63	0	54	255
HEATR5A	25938	broad.mit.edu	37	14	31771685	31771685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31771685G>A	ENST00000389961.3	-	32	5261	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000543095.2_Silent_p.I1760I|HEATR5A_ENST00000439727.1_Silent_p.I1467I|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1754										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)		TGAGGACCCCGATTGTGAGGT	0.403																																						ENST00000389961.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993646	0.990000	1.000000																										0				26						c.(5260-5262)atC>atT		HEAT repeat containing 5A							30.0	32.0	31.0					14																	31771685		1837	4090	5927	SO:0001819	synonymous_variant	25938	0	0					g.chr14:31771685G>A	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.5262C>T	chr14.hg19:g.31771685G>A		0					HEATR5A_ENST00000439727.1_Silent_p.I1467I|HEATR5A_ENST00000543095.2_Silent_p.I1760I|HEATR5A_ENST00000439348.1_Intron|RP11-596D21.1_ENST00000551799.1_RNA	p.I1754I			0	1	1	1.986586	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	32	5261	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	0	1	hg19	c.5262C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-17.413480	1	0.170000	NM_015473			9	7		45	44	1		1	1		0	0	13	0		9.942037e-01	9.979491e-01	0	24	0	39	0	9	45
HEATR5A	25938	broad.mit.edu	37	14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000389961.3	-	17	2569	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G863E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	857										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)		TTCTAGGGCTCCCATAACTAA	0.448																																						ENST00000389961.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				26						c.(2569-2571)gGa>gAa		HEAT repeat containing 5A							48.0	47.0	47.0					14																	31819115		1879	4114	5993	SO:0001583	missense	25938	0	0					g.chr14:31819115C>T	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.2570G>A	chr14.hg19:g.31819115C>T	ENSP00000374611:p.Gly857Glu	0					HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G863E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E	p.G857E			0	1	1	1.986586	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	17	2569	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	1	1	hg19	c.2570G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637646|3.637646	0.67130|0.67130	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07	5.48|5.48	5.48|5.48	0.80851|0.80851	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.119841	.|0.56097	.|D	.|0.000036	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.66939|0.66939	2.045|2.045	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P;D	.|0.63046	.|0.992;0.516;0.975	.|P;B;P	.|0.55785	.|0.736;0.26;0.784	T|T	0.68849|0.68849	-0.5300|-0.5300	5|10	.|0.45353	.|T	.|0.12	.|.	14.9096|14.9096	0.70746|0.70746	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|863;857;857	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	491|857;857;570;863;863	.|ENSP00000374611:G857E;ENSP00000405407:G857E;ENSP00000408681:G570E;ENSP00000437968:G863E;ENSP00000384646:G863E	.|ENSP00000374611:G857E	E|G	-|-	1|2	0|0	0|0	HEATR5A|HEATR5A	30888866|30888866	30888866|30888866	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.660000|3.660000	0.54496|0.54496	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GAG|GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_015473			19	19		70	69	1		1	1		0	0	20	0		9.999955e-01	9.991126e-01	0	14	0	33	0	19	70
HEATR5A	25938	broad.mit.edu	37	14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000389961.3	-	11	1710	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.H577Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	571										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)		CGAGCAAGGTGATGGCTAACA	0.413																																						ENST00000389961.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(1711-1713)Cac>Tac		HEAT repeat containing 5A							61.0	63.0	63.0					14																	31844154		1935	4139	6074	SO:0001583	missense	25938	0	0					g.chr14:31844154G>A	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.1711C>T	chr14.hg19:g.31844154G>A	ENSP00000374611:p.His571Tyr	0					HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y	p.H571Y			0	1	1	1.986586	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	11	1710	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	1	1	hg19	c.1711C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981905|3.981905	0.74474|0.74474	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	5.72|5.72	5.72|5.72	0.89469|0.89469	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.051661|.	0.85682|.	D|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.997;0.92;0.999|.	D;P;D|.	0.67725|.	0.92;0.615;0.953|.	T|T	0.83343|0.83343	-0.0007|-0.0007	10|5	0.07990|.	T|.	0.79|.	.|.	19.8765|19.8765	0.96875|0.96875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	577;571;571|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	571;571;284;577;577|219	ENSP00000374611:H571Y;ENSP00000405407:H571Y;ENSP00000408681:H284Y;ENSP00000437968:H577Y;ENSP00000384646:H577Y|.	ENSP00000374611:H571Y|.	H|S	-|-	1|2	0|0	0|0	HEATR5A|HEATR5A	30913905|30913905	30913905|30913905	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.725000|5.725000	0.68507|0.68507	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAC|TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015473			23	23		60	56	1		1	1		0	0	18	0		9.999997e-01	9.998243e-01	0	14	0	28	0	23	60
ARHGAP5	394	broad.mit.edu	37	14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	64					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)			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)		TGACTTTGGAGGACGAGTAGT	0.368																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(190-192)Gga>Tga		Rho GTPase activating protein 5							137.0	133.0	134.0					14																	32560065		2203	4300	6503	SO:0001587	stop_gained	394	0	0					g.chr14:32560065G>T	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.190G>T	chr14.hg19:g.32560065G>T	ENSP00000371897:p.Gly64*	0					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*	p.G64*	NM_001030055.1	NP_001025226.1	0	1	1	1.986586	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	2	505	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	0	1	hg19	c.190G>T	CCDS32062.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055869	0.76074	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000371897:G64X	G	+	1	0	0	ARHGAP5	31629816	31629816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-20.000000	1	0.170000	NM_001030055			87	87		521	514	1		1	1		0	0	115	0		1	9.999971e-01	0	38	0	71	0	87	521
ARHGAP5	394	broad.mit.edu	37	14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C	rs369503160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	185					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)			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)		AACCTTTTTGTCCAGTTATCA	0.328																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(553-555)gTc>gCc		Rho GTPase activating protein 5							65.0	66.0	66.0					14																	32560429		2202	4296	6498	SO:0001583	missense	394	0	0					g.chr14:32560429T>C	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.554T>C	chr14.hg19:g.32560429T>C	ENSP00000371897:p.Val185Ala	0					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A	p.V185A	NM_001030055.1	NP_001025226.1	0	1	1	1.986586	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	2	869	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	1	1	hg19	c.554T>C	CCDS32062.1	1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171826	0.06421	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.179418	0.47852	D	0.000212	T	0.43277	0.1240	N	0.01668	-0.77	0.30798	N	0.740217	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41324	-0.9515	10	0.07325	T	0.83	.	10.4499	0.44516	0.0:0.0724:0.0:0.9276	.	185;185	Q13017-2;Q13017	.;RHG05_HUMAN	A	185	ENSP00000452222:V185A;ENSP00000441692:V185A;ENSP00000371897:V185A;ENSP00000393307:V185A	ENSP00000371897:V185A	V	+	2	0	0	ARHGAP5	31630180	31630180	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.194000	0.70268	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_001030055			107	103		367	361	1		1	1		0	0	97	0		1	1	0	27	0	66	0	107	367
ARHGAP5	394	broad.mit.edu	37	14	32561798	32561798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S641S|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					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)			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)		ATGCCAAATCGCCTTACTTTT	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1921-1923)tcG>tcA		Rho GTPase activating protein 5							140.0	138.0	138.0					14																	32561798		2203	4300	6503	SO:0001819	synonymous_variant	394	2	121412	35				g.chr14:32561798G>A	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.1923G>A	chr14.hg19:g.32561798G>A		0					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S641S|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.S641S	p.S641S	NM_001030055.1	NP_001025226.1	0	1	1	1.986586	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	2	2238	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	1	1	hg19	c.1923G>A	CCDS32062.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_001030055			153	149		661	652	1		1	1		0	0	158	0		1	1	0	37	0	95	0	153	661
ARHGAP5	394	broad.mit.edu	37	14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	740					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)			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)		TATCCTCGTAAATTTAATGAA	0.403																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2218-2220)aAa>aCa		Rho GTPase activating protein 5							79.0	78.0	78.0					14																	32562094		2202	4300	6502	SO:0001583	missense	394	0	0					g.chr14:32562094A>C	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.2219A>C	chr14.hg19:g.32562094A>C	ENSP00000371897:p.Lys740Thr	0					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T	p.K740T	NM_001030055.1	NP_001025226.1	0	1	1	1.986586	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	2	2534	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	1	1	hg19	c.2219A>C	CCDS32062.1	1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795819	0.31777	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.041205	0.85682	D	0.000000	T	0.37892	0.1020	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.25291	0.059;0.027	T	0.12372	-1.0550	10	0.33141	T	0.24	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	740;740	Q13017-2;Q13017	.;RHG05_HUMAN	T	740	ENSP00000452222:K740T;ENSP00000441692:K740T;ENSP00000371897:K740T;ENSP00000393307:K740T	ENSP00000371897:K740T	K	+	2	0	0	ARHGAP5	31631845	31631845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.206000	0.71126	0.528000	0.53228	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000	NM_001030055			113	111		424	417	1		1	1		0	0	118	0		1	1	0	34	0	81	0	113	424
AKAP6	9472	broad.mit.edu	37	14	32902714	32902714	+	Silent	SNP	C	C	T	rs575539231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000280979.4	+	2	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	5					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAACCATGAGCGTGACACTTT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				122						c.(13-15)agC>agT		A kinase (PRKA) anchor protein 6							80.0	73.0	75.0					14																	32902714		2203	4300	6503	SO:0001819	synonymous_variant	9472	6	121410	37				g.chr14:32902714C>T	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.15C>T	chr14.hg19:g.32902714C>T		0					AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	p.S5S	NM_004274.4	NP_004265.3	0	1	1	1.986586	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	2	185	+	Breast(36;0.0388)|Prostate(35;0.15)		A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	1	1	hg19	c.15C>T	CCDS9644.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-18.427160	1	0.170000	NM_004274			36	36		203	200	1		1	1		0	0	65	0		1	2.410754e-02	0	2	0	0	0	36	203
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_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				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4	1.000000	0.730000	1	8.800000e-01	0.990000	0.958766	0.990000	1.000000																										1	Substitution - Missense(1)	p.A731T(1)	large_intestine(1)	122						c.(2191-2193)Gct>Act		A kinase (PRKA) anchor protein 6		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	SO:0001583	missense	9472	77	121412	50				g.chr14:33016050G>A	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	chr14.hg19:g.33016050G>A	ENSP00000280979:p.Ala731Thr	0					AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	p.A731T	NM_004274.4	NP_004265.3	0	1	1	1.986586	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	4	2361	+	Breast(36;0.0388)|Prostate(35;0.15)		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	1	1	hg19	c.2191G>A	CCDS9644.1	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	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	0	AKAP6	32085801	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	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-10.850420	1	0.170000	NM_004274			32	32		324	319	0		1	0		0	0	69	0		1	0	0	1	0	0	0	32	324
NPAS3	64067	broad.mit.edu	37	14	34029338	34029338	+	Silent	SNP	C	C	T	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000356141.4	+	5	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000346562.2_Silent_p.G128G|NPAS3_ENST00000551492.1_Silent_p.G165G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	160	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			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)		CCCTGGATGGCTTTGTATTTG	0.318																																						ENST00000356141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(478-480)ggC>ggT		neuronal PAS domain protein 3							78.0	76.0	77.0					14																	34029338		2203	4300	6503	SO:0001819	synonymous_variant	64067	0	0					g.chr14:34029338C>T	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.480C>T	chr14.hg19:g.34029338C>T		0					NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000346562.2_Silent_p.G128G	p.G160G			0	1	1	1.986586	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	5	480	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	1	1	hg19	c.480C>T	CCDS53891.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-3.584332	1	0.170000				70	70		278	274	1		1	0		0	0	32	0		1	4.161172e-02	0	0	0	2	0	70	278
NPAS3	64067	broad.mit.edu	37	14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000356141.4	+	12	1625	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A510V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					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)			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)		AACCCCAAGGCGGGCGAGGAC	0.632																																						ENST00000356141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1624-1626)gCg>gTg		neuronal PAS domain protein 3							56.0	60.0	58.0					14																	34269138		2203	4300	6503	SO:0001583	missense	64067	0	0					g.chr14:34269138C>T	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.1625C>T	chr14.hg19:g.34269138C>T	ENSP00000348460:p.Ala542Val	0					NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A510V	p.A542V			0	1	1	1.986586	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	12	1625	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	1	1	hg19	c.1625C>T	CCDS53891.1	1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187001	0.57909	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71698	-0.59;3.25;3.25;3.25;3.25;3.11	5.14	3.29	0.37713	5.14	3.29	0.37713	.	0.261252	0.37012	N	0.002292	T	0.52075	0.1712	N	0.08118	0	0.80722	D	1	D;P;D;D	0.54601	0.967;0.944;0.967;0.967	P;B;P;P	0.46026	0.501;0.304;0.501;0.501	T	0.52895	-0.8514	10	0.46703	T	0.11	.	9.3778	0.38295	0.0:0.6552:0.2712:0.0736	.	512;542;510;529	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	516;547;510;512;542;529	ENSP00000448373:A516V;ENSP00000450392:A547V;ENSP00000319610:A510V;ENSP00000448916:A512V;ENSP00000348460:A542V;ENSP00000350446:A529V	ENSP00000319610:A510V	A	+	2	0	0	NPAS3	33338889	33338889	0.936000	0.31750	0.942000	0.38095	0.980000	0.70556	1.980000	0.40618	0.531000	0.28639	0.555000	0.69702	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000				53	53		231	225	1		1	0		0	0	36	0		1	1.639970e-01	0	0	0	4	0	53	231
NPAS3	64067	broad.mit.edu	37	14	34269619	34269619	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000356141.4	+	12	2106	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000346562.2_Silent_p.G670G|NPAS3_ENST00000551492.1_Silent_p.G707G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	702	Gly-rich.				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)			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)		GTGGGGGTGGCGGTGGCGGGG	0.741																																						ENST00000356141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2104-2106)ggC>ggT		neuronal PAS domain protein 3							10.0	13.0	12.0					14																	34269619		2060	4039	6099	SO:0001819	synonymous_variant	64067	0	0					g.chr14:34269619C>T	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.2106C>T	chr14.hg19:g.34269619C>T		0					NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000346562.2_Silent_p.G670G	p.G702G			0	1	1	1.986586	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	12	2106	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	1	1	hg19	c.2106C>T	CCDS53891.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000				49	48		154	152	0		1			0	0	18	0		1	0	0	0	0	0	0	49	154
EAPP	55837	broad.mit.edu	37	14	34985588	34985588	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	262					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)				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)		CTTCAGTGGAACATTCAGTGC	0.453																																						ENST00000250454.3	1.000000	0.680000	9.800000e-01	7.700000e-01	0.870000	0.874445	0.870000	1.000000																										0				12						c.(784-786)tgT>tgC		E2F-associated phosphoprotein							206.0	199.0	202.0					14																	34985588		1981	4160	6141	SO:0001819	synonymous_variant	55837	0	0					g.chr14:34985588A>G	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.786T>C	chr14.hg19:g.34985588A>G		0						p.C262C	NM_018453.3	NP_060923.2	0	1	1	1.986586	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	6	867	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	1	1	hg19	c.786T>C	CCDS41941.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-13.393650	1	0.170000	NM_018453			64	64		792	775	1		1	1		0	0	157	0		1	9.999999e-01	0	50	0	238	0	64	792
SNX6	58533	broad.mit.edu	37	14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000362031.4	-	13	1229	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	SNX6_ENST00000396526.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V|SNX6_ENST00000396534.3_Missense_Mutation_p.A272V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	388					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289																																						ENST00000362031.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1198-1200)gCa>gTa		sorting nexin 6							72.0	71.0	72.0					14																	35036896		2203	4297	6500	SO:0001583	missense	58533	0	0					g.chr14:35036896G>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1199C>T	chr14.hg19:g.35036896G>A	ENSP00000355217:p.Ala400Val	0					SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000396526.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V	p.A400V	NM_152233.2	NP_689419.2	0	1	1	1.986586	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	13	1229	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	1	1	hg19	c.1199C>T	CCDS41942.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491920	0.84962	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.9	4.0	0.46444	4.9	4.0	0.46444	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.87456	2.885	0.80722	D	1	B;B	0.28291	0.114;0.206	B;B	0.30572	0.055;0.117	T	0.70163	-0.4947	10	0.87932	D	0	-14.5445	14.1526	0.65395	0.0743:0.0:0.9257:0.0	.	276;388	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	272;272;400;276	ENSP00000379779:A272V;ENSP00000379785:A272V;ENSP00000355217:A400V;ENSP00000347230:A276V	ENSP00000347230:A276V	A	-	2	0	0	SNX6	34106647	34106647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.763000	0.85283	1.386000	0.46466	0.557000	0.71058	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000				41	41		182	177	1		1	1		0	0	13	0		1	1	0	122	0	345	0	41	182
SNX6	58533	broad.mit.edu	37	14	35078930	35078930	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35078930C>A	ENST00000362031.4	-	3	139	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	25	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTTGAAGATCTACATTTATT	0.313																																						ENST00000362031.4	0.540000	0.140000	4.200000e-01	2.100000e-01	0.300000	0.321339	0.300000	0.290000																										0				6						c.(109-111)Gat>Tat		sorting nexin 6							85.0	79.0	81.0					14																	35078930		1847	4101	5948	SO:0001583	missense	58533	1	120812	30				g.chr14:35078930C>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.109G>T	chr14.hg19:g.35078930C>A	ENSP00000355217:p.Asp37Tyr	0					SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	p.D37Y	NM_152233.2	NP_689419.2	0	1	1	1.986586	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	3	139	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	0	1	hg19	c.109G>T	CCDS41942.1	0	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756702	0.49362	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T	0.61742	2.03;0.08	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78386	-0.2224	10	0.87932	D	0	-17.3526	18.0431	0.89324	0.0:1.0:0.0:0.0	.	25	Q9UNH7	SNX6_HUMAN	Y	37;37;55	ENSP00000355217:D37Y;ENSP00000452577:D37Y	ENSP00000355217:D37Y	D	-	1	0	0	SNX6	34148681	34148681	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.609000	0.82925	2.432000	0.82394	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.275952	1	0.170000				8	8		313	309	0		1	1		0	0	63	0		9.890504e-01	9.388933e-01	0	11	0	183	0	8	313
BAZ1A	11177	broad.mit.edu	37	14	35245537	35245537	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000382422.2	-	17	2748	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_ENST00000360310.1_Silent_p.R807R|BAZ1A_ENST00000358716.4_Silent_p.R775R			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	807	Interaction with SMARCA5.				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)			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)		ACATGCGGTCGCGACCCAAGG	0.418																																						ENST00000382422.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2419-2421)cgC>cgT		bromodomain adjacent to zinc finger domain, 1A							133.0	132.0	132.0					14																	35245537		2203	4300	6503	SO:0001819	synonymous_variant	11177	3	121412	37				g.chr14:35245537G>A	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.2421C>T	chr14.hg19:g.35245537G>A		0					BAZ1A_ENST00000358716.4_Silent_p.R775R|BAZ1A_ENST00000360310.1_Silent_p.R807R	p.R807R			0	1	1	1.986586	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	17	2748	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	1	1	hg19	c.2421C>T	CCDS9651.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				101	100		481	471	1		1	1		0	0	110	0		1	9.999849e-01	0	22	0	55	0	101	481
SRP54	6729	broad.mit.edu	37	14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000555557.1_Missense_Mutation_p.G234D|SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	298	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)			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)		ATAGGTATGGGCGACATTGAA	0.328																																						ENST00000556994.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(892-894)gGc>gAc		signal recognition particle 54kDa							130.0	130.0	130.0					14																	35483956		2203	4299	6502	SO:0001583	missense	6729	0	0					g.chr14:35483956G>A	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.893G>A	chr14.hg19:g.35483956G>A	ENSP00000451818:p.Gly298Asp	0					SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D	p.G298D			0	1	1	1.986586	P61011	SRP54_HUMAN	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)	12	1290	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	1	1	hg19	c.893G>A	CCDS9652.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.181701	0.94885	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	9	0.87932	D	0	-6.511	20.1606	0.98132	0.0:0.0:1.0:0.0	.	249;298	B4DUW6;P61011	.;SRP54_HUMAN	D	298;298;249;234	.	ENSP00000216774:G298D	G	+	2	0	0	SRP54	34553707	34553707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.382000	0.97209	2.772000	0.95346	0.650000	0.86243	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_003136			72	70		379	373	1		1	1		0	0	86	0		1	1	0	49	0	222	0	72	379
KIAA0391	9692	broad.mit.edu	37	14	35593373	35593373	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.L308L|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	308					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279																																						ENST00000557565.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(922-924)Cta>Tta		KIAA0391							30.0	33.0	32.0					14																	35593373		2170	4274	6444	SO:0001819	synonymous_variant	9692	2	121214	33				g.chr14:35593373C>T	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.922C>T	chr14.hg19:g.35593373C>T		0					KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000604948.1_Silent_p.L213L|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank	p.L308L	NM_001282234.1	NP_001269163.1	0	1	1	1.986586	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	2	1303	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	1	0	hg19	c.922C>T	CCDS32063.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_014672			46	45		184	174	1		1	1		0	0	36	0		1	9.998673e-01	0	13	0	44	0	46	184
KIAA0391	9692	broad.mit.edu	37	14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	445					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478																																						ENST00000557565.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1333-1335)Cgg>Tgg		KIAA0391							215.0	207.0	210.0					14																	35735990		2203	4300	6503	SO:0001583	missense	9692	1	121412	38				g.chr14:35735990C>T	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.1333C>T	chr14.hg19:g.35735990C>T	ENSP00000454657:p.Arg445Trp	0					KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W	p.R445W	NM_001282234.1	NP_001269163.1	0	1	1	1.986586	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	6	1714	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	1	0	hg19	c.1333C>T	CCDS32063.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972826	0.74246	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.58;0.51;0.52;0.83	5.62	4.73	0.59995	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.88181	2.935	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-8.7734	12.7785	0.57464	0.2972:0.7028:0.0:0.0	.	429;445	O15091-2;O15091	.;MRRP3_HUMAN	W	350;350;429;445;429;73;73	ENSP00000250377:R350W;ENSP00000324697:R429W;ENSP00000440915:R445W;ENSP00000450898:R73W	ENSP00000250377:R350W	R	+	1	2	2	KIAA0391	34805741	34805741	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.588000	0.53964	1.369000	0.46134	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	0	0	1		2	4	2	1		1	0	160		160	159	1	2.060000	-3.382727	1	0.170000	NM_014672			137	135		541	534	1		1	1		1	0	160	0		1	9.999866e-01	0	20	0	67	0	137	541
PSMA6	5687	broad.mit.edu	37	14	35761742	35761742	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000553809.1_Silent_p.G20G|PSMA6_ENST00000556506.1_Silent_p.G20G|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	20					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577																																						ENST00000261479.4	0.660000	0.270000	5.600000e-01	3.500000e-01	0.440000	0.460242	0.440000	0.430000																										0				10						c.(58-60)ggT>ggC		proteasome (prosome, macropain) subunit, alpha type, 6							100.0	96.0	97.0					14																	35761742		2203	4300	6503	SO:0001819	synonymous_variant	5687	0	0					g.chr14:35761742T>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.60T>C	chr14.hg19:g.35761742T>C		0					PSMA6_ENST00000556506.1_Silent_p.G20G|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000553809.1_Silent_p.G20G	p.G20G	NM_002791.1	NP_002782.1	0	1	1	1.986586	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	1	180	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	1	1	hg19	c.60T>C	CCDS9655.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1	0	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-18.031510	1	0.170000				19	19		483	475	0		1	1		0	0	92	0		9.999893e-01	9.999999e-01	0	53	0	737	0	19	483
PSMA6	5687	broad.mit.edu	37	14	35783581	35783581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000540871.1_Silent_p.C182C|PSMA6_ENST00000553809.1_Silent_p.C207C|PSMA6_ENST00000556506.1_Intron|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Silent_p.C122C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323																																						ENST00000261479.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998639	0.990000	1.000000																										0				10						c.(601-603)tgC>tgT		proteasome (prosome, macropain) subunit, alpha type, 6							60.0	57.0	58.0					14																	35783581		2203	4300	6503	SO:0001819	synonymous_variant	5687	0	0					g.chr14:35783581C>T	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.603C>T	chr14.hg19:g.35783581C>T		0					PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000555764.1_Silent_p.C122C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Silent_p.C182C|PSMA6_ENST00000553809.1_Silent_p.C207C	p.C201C	NM_002791.1	NP_002782.1	0	1	1	1.986586	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	6	723	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	0	1	hg19	c.603C>T	CCDS9655.1	1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448254	0.04572	.	.	ENSG00000100902	ENST00000556221	.	.	.	5.55	1.72	0.24424	5.55	1.72	0.24424	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-13.0287	9.2121	0.37324	0.0:0.5445:0.0:0.4555	.	.	.	.	V	40	.	.	A	+	2	0	0	PSMA6	34853332	34853332	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	0.247000	0.18179	0.112000	0.17975	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-12.308770	1	0.170000				23	23		148	143	1		1	1		0	0	31	0		9.999995e-01	1	0	165	0	509	0	23	148
NFKBIA	4792	broad.mit.edu	37	14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000216797.5	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	90					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)			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)	CACTTCCATGGTCAGTGCCTT	0.607																																						ENST00000216797.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				7						c.(268-270)aCc>aTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	Acetylsalicylic acid(DB00945)						80.0	67.0	71.0					14																	35872963		2203	4300	6503	SO:0001583	missense	4792	0	0					g.chr14:35872963G>A		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.269C>T	chr14.hg19:g.35872963G>A	ENSP00000216797:p.Thr90Ile	0					NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I	p.T90I	NM_020529.2	NP_065390.1	0	1	1	1.986586	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	2	370	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	1	1	hg19	c.269C>T	CCDS9656.1	1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739977	0.69304	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.78924	-0.01;-0.01;-1.22	5.93	5.93	0.95920	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.57051	0.2027	N	0.04508	-0.205	0.80722	D	1	B;B	0.22211	0.053;0.066	B;B	0.24974	0.019;0.057	T	0.55673	-0.8104	9	0.37606	T	0.19	-17.6661	9.3287	0.38008	0.0777:0.1894:0.7329:0.0	.	90;90	G3V3I4;P25963	.;IKBA_HUMAN	I	90;90;66	ENSP00000216797:T90I;ENSP00000451257:T90I;ENSP00000451281:T66I	ENSP00000216797:T90I	T	-	2	0	0	NFKBIA	34942714	34942714	0.991000	0.36638	0.999000	0.59377	0.963000	0.63663	2.637000	0.46553	2.814000	0.96858	0.563000	0.77884	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_020529			26	26		114	111	1		1	1		0	0	19	0		1	1	0	48	0	368	0	26	114
INSM2	84684	broad.mit.edu	37	14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	310					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)			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)		GCCTCCCATCGCCGCTGGCAT	0.682																																						ENST00000307169.3	1.000000	0.840000	1	9.900000e-01	0.990000	0.987033	0.990000	1.000000																										0				10						c.(928-930)cGc>cAc		insulinoma-associated 2							26.0	30.0	29.0					14																	36004387		2203	4296	6499	SO:0001583	missense	84684	0	0					g.chr14:36004387G>A	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.929G>A	chr14.hg19:g.36004387G>A	ENSP00000306523:p.Arg310His	0						p.R310H	NM_032594.3	NP_115983.3	0	1	1	1.986586	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	1	1140	+	Breast(36;0.122)|Hepatocellular(127;0.158)		A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	1	1	hg19	c.929G>A	CCDS9657.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964553	0.92791	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005812	T	0.60431	0.2268	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63571	-0.6607	10	0.62326	D	0.03	-21.8935	16.9569	0.86262	0.0:0.0:1.0:0.0	.	310	Q96T92	INSM2_HUMAN	H	310	ENSP00000306523:R310H	ENSP00000306523:R310H	R	+	2	0	0	INSM2	35074138	35074138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.351000	0.97073	2.269000	0.75478	0.563000	0.77884	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1	0	0	1		20	2	2	1		1	1	51		51	51	1	2.060000	-20.000000	1	0.170000				33	33		292	287	1		1			1	0	51	0		9.733907e-01	0	0	0	0	0	0	33	292
INSM2	84684	broad.mit.edu	37	14	36004916	36004916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	486					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)			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)		ATATCAGGGAGAAGCACCGGC	0.682																																						ENST00000307169.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1456-1458)gaG>gaA		insulinoma-associated 2							28.0	31.0	30.0					14																	36004916		2202	4299	6501	SO:0001819	synonymous_variant	84684	0	0					g.chr14:36004916G>A	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.1458G>A	chr14.hg19:g.36004916G>A		0						p.E486E	NM_032594.3	NP_115983.3	0	1	1	1.986586	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	1	1669	+	Breast(36;0.122)|Hepatocellular(127;0.158)		A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	1	1	hg19	c.1458G>A	CCDS9657.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1	0	0	1		19	2	2	1		1	1	59		59	58	1	2.060000	-20.000000	1	0.170000				59	59		272	271	1		1			1	0	59	0		9.999997e-01	0	0	0	0	0	0	59	272
RALGAPA1	253959	broad.mit.edu	37	14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000389698.3	-	37	6170	c.5780G>A	c.(5779-5781)gGt>gAt	p.G1927D	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1927	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)			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						AAGGACATCACCAAATTCTGT	0.348																																						ENST00000389698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(5779-5781)gGt>gAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							109.0	109.0	109.0					14																	36041836		2203	4297	6500	SO:0001583	missense	253959	0	0					g.chr14:36041836C>T	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.5780G>A	chr14.hg19:g.36041836C>T	ENSP00000374348:p.Gly1927Asp	0					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D	p.G1927D	NM_014990.1	NP_055805.1	0	1	1	1.986586	Q6GYQ0	RGPA1_HUMAN		37	6170	-			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	0	1	hg19	c.5780G>A	CCDS32065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715974|4.715974	0.89205|0.89205	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.93763|.	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.992;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.928;0.998|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.42905|.	T|.	0.14|.	-13.561|-13.561	18.6419|18.6419	0.91398|0.91398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1974;1940;1927;1927|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	D|M	1927;1927;1927;1974;565;1940;1974|210	ENSP00000374348:G1927D;ENSP00000302647:G1927D;ENSP00000258840:G1974D;ENSP00000451133:G565D;ENSP00000371803:G1940D;ENSP00000451877:G1974D|.	ENSP00000258840:G1974D|.	G|V	-|-	2|1	0|0	0|0	RALGAPA1|RALGAPA1	35111587|35111587	35111587|35111587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.403000|2.403000	0.81681|0.81681	0.460000|0.460000	0.39030|0.39030	GGT|GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1		2	2	2	0		0	0	74		74	81	1	2.060000	-20.000000	1	0.170000	XM_210022			71	71		304	297	1		1	1		0	0	74	0		1	7.732012e-01	0	5	0	9	0	71	304
RALGAPA1	253959	broad.mit.edu	37	14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000389698.3	-	22	3545	c.3155C>A	c.(3154-3156)aCt>aAt	p.T1052N	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1052					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)			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						TCCAGTCAGAGTACCTCCTGC	0.373																																						ENST00000389698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3154-3156)aCt>aAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							23.0	23.0	23.0					14																	36143867		2203	4293	6496	SO:0001583	missense	253959	0	0					g.chr14:36143867G>T	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.3155C>A	chr14.hg19:g.36143867G>T	ENSP00000374348:p.Thr1052Asn	0					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N	p.T1052N	NM_014990.1	NP_055805.1	0	1	1	1.986586	Q6GYQ0	RGPA1_HUMAN		22	3545	-			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	1	1	hg19	c.3155C>A	CCDS32065.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046533	0.36085	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000002	T	0.69124	0.3076	L	0.46157	1.445	0.58432	D	0.999992	P;B;P;B	0.47545	0.897;0.047;0.763;0.104	P;B;B;B	0.47206	0.541;0.04;0.173;0.024	T	0.64757	-0.6332	10	0.09590	T	0.72	-15.642	19.0012	0.92834	0.0:0.0:1.0:0.0	.	1099;1065;1052;1052	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1052;1052;1052;1099;1065;1099	ENSP00000374348:T1052N;ENSP00000302647:T1052N;ENSP00000258840:T1099N;ENSP00000371803:T1065N;ENSP00000451877:T1099N	ENSP00000258840:T1099N	T	-	2	0	0	RALGAPA1	35213618	35213618	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.522000	0.73783	2.466000	0.83321	0.591000	0.81541	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1		2	2	2	0		0	0	37		37	55	1	2.060000	-20.000000	1	0.170000	XM_210022			39	37		141	137	1		1	1		0	0	37	0		1	9.049742e-01	0	6	0	11	0	39	141
RALGAPA1	253959	broad.mit.edu	37	14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000389698.3	-	19	3128	c.2738C>A	c.(2737-2739)tCt>tAt	p.S913Y	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	913					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)			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						AGCGCTGAAAGAATCCGAATG	0.433																																						ENST00000389698.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				67						c.(2737-2739)tCt>tAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							47.0	47.0	47.0					14																	36154173		2203	4300	6503	SO:0001583	missense	253959	0	0					g.chr14:36154173G>T	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.2738C>A	chr14.hg19:g.36154173G>T	ENSP00000374348:p.Ser913Tyr	0					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y	p.S913Y	NM_014990.1	NP_055805.1	0	1	1	1.986586	Q6GYQ0	RGPA1_HUMAN		19	3128	-			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	1	1	hg19	c.2738C>A	CCDS32065.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589901	0.86851	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95035	-3.54;-3.54;-3.59;-3.59;-3.59	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.996	D;D;D;D;P	0.87578	0.997;0.991;0.998;0.996;0.896	D	0.95649	0.8705	10	0.54805	T	0.06	-15.9621	20.3593	0.98849	0.0:0.0:1.0:0.0	.	960;926;960;913;913	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Y	913;913;913;960;926;960	ENSP00000374348:S913Y;ENSP00000302647:S913Y;ENSP00000258840:S960Y;ENSP00000371803:S926Y;ENSP00000451877:S960Y	ENSP00000258840:S960Y	S	-	2	0	0	RALGAPA1	35223924	35223924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.822000	0.97130	0.557000	0.71058	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1		2	2	2	0		0	0	29		29	33	1	2.060000	-20.000000	1	0.170000	XM_210022			21	21		98	96	1		1	1		0	0	29	0		9.999986e-01	8.660339e-01	0	4	0	15	0	21	98
BRMS1L	84312	broad.mit.edu	37	14	36295809	36295809	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	29					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627																																						ENST00000216807.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999346	0.990000	1.000000																										0				9						c.(85-87)agC>agT		breast cancer metastasis-suppressor 1-like							89.0	60.0	69.0					14																	36295809		2203	4300	6503	SO:0001819	synonymous_variant	84312	0	0					g.chr14:36295809C>T	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.87C>T	chr14.hg19:g.36295809C>T		0					RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	p.S29S	NM_032352.3	NP_115728.2	0	1	1	1.986586	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	1	286	+	Breast(36;0.137)|Hepatocellular(127;0.158)		A6NFW5|A6NH45|B2RD65|Q9BRI4	Silent	SNP	ENST00000216807.7	1	1	hg19	c.87C>T	CCDS32066.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_032352			16	16		77	77	1		1	1		0	0	20	0		9.999610e-01	9.413338e-01	0	5	0	21	0	16	77
NKX2-1	7080	broad.mit.edu	37	14	36986961	36986961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36986961C>T	ENST00000518149.1	-	3	1243	c.638G>A	c.(637-639)cGc>cAc	p.R213H	NKX2-1_ENST00000354822.5_Missense_Mutation_p.R243H|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.R213H|NKX2-1_ENST00000498187.2_Missense_Mutation_p.R213H|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	213			R -> S (in BHC; dbSNP:rs28936671). {ECO:0000269|PubMed:11971878}.		anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CATTTTGTAGCGGTGGTTCTG	0.672			A		NSCLC																																	ENST00000518149.1	1.000000	0.620000	1	8.700000e-01	0.990000	0.952447	0.990000	1.000000				Dom	yes			Dom	yes		14	14q13	14q13	7080	A	NK2 homeobox 1				E	E			NSCLC		0				7						c.(637-639)cGc>cAc		NK2 homeobox 1							34.0	31.0	32.0					14																	36986961		2203	4300	6503	SO:0001583	missense	7080	0	0					g.chr14:36986961C>T		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.638G>A	chr14.hg19:g.36986961C>T	ENSP00000428341:p.Arg213His	0					NKX2-1_ENST00000522719.2_Missense_Mutation_p.R213H|NKX2-1_ENST00000354822.5_Missense_Mutation_p.R243H|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.R213H|NKX2-1-AS1_ENST00000521292.2_RNA	p.R213H			0	1	1	1.986586	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	3	1243	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	1	0	hg19	c.638G>A	CCDS9659.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704399	0.88924	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	4.39	4.39	0.52855	4.39	4.39	0.52855	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.96931	0.9681	10	0.87932	D	0	.	16.9385	0.86209	0.0:1.0:0.0:0.0	.	243;213	P43699-3;P43699	.;NKX21_HUMAN	H	243;213;213;213	ENSP00000346879:R243H;ENSP00000429607:R213H;ENSP00000428341:R213H;ENSP00000429519:R213H	ENSP00000346879:R243H	R	-	2	0	0	NKX2-1	36056712	36056712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.005000	0.58758	0.555000	0.69702	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-6.928349	1	0.170000	NM_003317			10	10		88	84	0		1			0	0	25	0		9.967529e-01	0	0	0	0	0	0	10	88
NKX2-8	26257	broad.mit.edu	37	14	37050665	37050665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	54					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706																																						ENST00000258829.5	1.000000	0.780000	1	9.900000e-01	0.990000	0.985974	0.990000	1.000000																										0				1						c.(160-162)tcG>tcA		NK2 homeobox 8							6.0	7.0	7.0					14																	37050665		1994	4134	6128	SO:0001819	synonymous_variant	26257	0	0					g.chr14:37050665C>T		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.162G>A	chr14.hg19:g.37050665C>T		0						p.S54S	NM_014360.2	NP_055175.2	0	1	1	1.986586	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	2	379	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Q8IUT7	Silent	SNP	ENST00000258829.5	0	1	hg19	c.162G>A	CCDS9660.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-16.661090	1	0.170000				9	9		56	52	0		1			0	0	8	0		9.937312e-01	0	0	0	0	0	0	9	56
PAX9	5083	broad.mit.edu	37	14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	59	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642																																						ENST00000361487.6	1.000000	0.980000	1	9.900000e-01	0.990000	0.998370	0.990000	1.000000																										0				12	GRCh37	CM077220	PAX9	M		c.(175-177)Cga>Tga		paired box 9							45.0	45.0	45.0					14																	37132272		2203	4300	6503	SO:0001587	stop_gained	5083	0	0					g.chr14:37132272C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.175C>T	chr14.hg19:g.37132272C>T	ENSP00000355245:p.Arg59*	0					PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*	p.R59*			0	1	1	1.986586	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	2	400	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	0	1	hg19	c.175C>T	CCDS9662.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.951174	0.99303	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.054030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5219	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000355245:R59X	R	+	1	2	2	PAX9	36202023	36202023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.876000	0.63079	2.383000	0.81215	0.561000	0.74099	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000				40	38		306	302	1		1			0	0	56	0		1	0	0	0	0	0	0	40	306
PAX9	5083	broad.mit.edu	37	14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000402703.2_Missense_Mutation_p.V198I|PAX9_ENST00000554201.1_Missense_Mutation_p.V11I			P55771	PAX9_HUMAN	paired box 9	198					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716																																						ENST00000361487.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(592-594)Gtc>Atc		paired box 9							31.0	32.0	32.0					14																	37132689		2202	4297	6499	SO:0001583	missense	5083	0	0					g.chr14:37132689G>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.592G>A	chr14.hg19:g.37132689G>A	ENSP00000355245:p.Val198Ile	0					PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I	p.V198I			0	1	1	1.986586	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	2	817	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	1	1	hg19	c.592G>A	CCDS9662.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561606	0.86335	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.99353	-5.77;-5.77;0.08	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99683	1.0999	10	0.37606	T	0.19	.	18.8295	0.92132	0.0:0.0:1.0:0.0	.	198	P55771	PAX9_HUMAN	I	198;198;11	ENSP00000384817:V198I;ENSP00000355245:V198I;ENSP00000450434:V11I	ENSP00000355245:V198I	V	+	1	0	0	PAX9	36202440	36202440	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.861000	0.99562	2.445000	0.82738	0.561000	0.74099	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.396324	1	0.170000				84	82		344	334	1		1			0	0	54	0		1	0	0	0	0	0	0	84	344
SLC25A21	89874	broad.mit.edu	37	14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	118					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358																																						ENST00000331299.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(352-354)Gga>Aga		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							94.0	89.0	91.0					14																	37194861		2203	4300	6503	SO:0001583	missense	89874	0	0					g.chr14:37194861C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.352G>A	chr14.hg19:g.37194861C>T	ENSP00000329452:p.Gly118Arg	0					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	p.G118R	NM_030631.3	NP_085134.1	0	1	1	1.986586	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	6	867	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	1	1	hg19	c.352G>A	CCDS9663.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440300	0.63067	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.43	5.43	0.79202	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95004	3.61	0.80722	D	1	D	0.58620	0.983	D	0.66497	0.944	D	0.90820	0.4708	10	0.31617	T	0.26	-10.3573	19.3129	0.94198	0.0:1.0:0.0:0.0	.	118	Q9BQT8	ODC_HUMAN	R	118	ENSP00000451873:G118R;ENSP00000329452:G118R	ENSP00000329452:G118R	G	-	1	0	0	SLC25A21	36264612	36264612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.321060	1	0.170000	NM_030631			59	57		244	243	1		1	0		0	0	53	0		1	3.921569e-02	0	0	0	2	0	59	244
MIPOL1	145282	broad.mit.edu	37	14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000327441.7	+	6	828	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000539174.2_3'UTR	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	121						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAGAATTGGATATTCTCAGA	0.313																																						ENST00000327441.7	1.000000	0.690000	1	8.200000e-01	0.960000	0.928091	0.960000	1.000000																										0				23						c.(361-363)gAt>gGt		mirror-image polydactyly 1							83.0	88.0	86.0					14																	37737973		2201	4288	6489	SO:0001583	missense	145282	1	121362	28				g.chr14:37737973A>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.362A>G	chr14.hg19:g.37737973A>G	ENSP00000333539:p.Asp121Gly	0					MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron	p.D121G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	0	1	1	1.986586	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	6	828	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	1	1	hg19	c.362A>G	CCDS9664.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442142	0.83993	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56776	0.48;0.48;0.44;0.48;0.48;0.44	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.243144	0.39146	N	0.001447	T	0.58935	0.2157	L	0.48642	1.525	0.80722	D	1	P;P	0.51449	0.57;0.945	B;P	0.52909	0.364;0.713	T	0.60146	-0.7320	10	0.49607	T	0.09	-2.1235	15.2974	0.73919	1.0:0.0:0.0:0.0	.	121;90	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	121;90;90;121;121;121;90	ENSP00000333539:D121G;ENSP00000438319:D90G;ENSP00000450479:D90G;ENSP00000379589:D121G;ENSP00000444254:D121G;ENSP00000442529:D90G	ENSP00000333539:D121G	D	+	2	0	0	MIPOL1	36807724	36807724	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.720000	0.68470	2.084000	0.62774	0.482000	0.46254	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-10.759880	1	0.170000	NM_138731			36	35		399	387	0		1	1		0	0	126	0		1	5.835196e-01	0	2	0	21	0	36	399
MIPOL1	145282	broad.mit.edu	37	14	38016120	38016120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000396294.2_Silent_p.L425L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	425						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTGGAAAGGCTGGTGGATGT	0.473																																						ENST00000327441.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999499	0.990000	1.000000																										0				23						c.(1273-1275)Ctg>Ttg		mirror-image polydactyly 1							111.0	102.0	105.0					14																	38016120		2203	4300	6503	SO:0001819	synonymous_variant	145282	0	0					g.chr14:38016120C>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1273C>T	chr14.hg19:g.38016120C>T		0					MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000536774.1_Silent_p.L244L	p.L425L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	0	1	1	1.986586	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	14	1739	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	1	1	hg19	c.1273C>T	CCDS9664.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_138731			21	21		116	112	1		1	0		0	0	40	0		9.999981e-01	7.586441e-01	0	1	0	16	0	21	116
FOXA1	3169	broad.mit.edu	37	14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	52					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612																																						ENST00000250448.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(154-156)aCc>aTc		forkhead box A1							173.0	151.0	159.0					14																	38061834		2203	4300	6503	SO:0001583	missense	3169	0	0					g.chr14:38061834G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.155C>T	chr14.hg19:g.38061834G>A	ENSP00000250448:p.Thr52Ile	0					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	p.T52I	NM_004496.3	NP_004487.2	0	1	1	1.986586	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	2	216	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	1	1	hg19	c.155C>T	CCDS9665.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949068	0.53186	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.16	4.16	0.48862	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.164010	0.06577	N	0.749592	T	0.22166	0.0534	N	0.22421	0.69	0.45946	D	0.998773	P	0.37914	0.611	B	0.39617	0.305	T	0.15321	-1.0441	10	0.66056	D	0.02	.	16.2573	0.82524	0.0:0.0:1.0:0.0	.	52	P55317	FOXA1_HUMAN	I	52;19	ENSP00000250448:T52I;ENSP00000440178:T19I	ENSP00000250448:T52I	T	-	2	0	0	FOXA1	37131585	37131585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.830000	0.55768	2.135000	0.66039	0.561000	0.74099	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000				101	101		465	461	1		1	1		0	0	105	0		1	8.311367e-01	0	11	0	6	0	101	465
SSTR1	6751	broad.mit.edu	37	14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	123					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)			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)	TTGCGCCACTGGCCCTTCGGT	0.587																																						ENST00000267377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(367-369)tGg>tAg		somatostatin receptor 1	Octreotide(DB00104)|Pasireotide(DB06663)						190.0	172.0	178.0					14																	38678962		2203	4300	6503	SO:0001587	stop_gained	6751	0	0					g.chr14:38678962G>A		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.368G>A	chr14.hg19:g.38678962G>A	ENSP00000267377:p.Trp123*	0						p.W123*	NM_001049.2	NP_001040.1	0	1	1	1.986586	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	3	985	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)			Nonsense_Mutation	SNP	ENST00000267377.2	0	1	hg19	c.368G>A	CCDS9666.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.702552	0.99242	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000267377:W123X	W	+	2	0	0	SSTR1	37748713	37748713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.623000	0.98386	2.583000	0.87209	0.655000	0.94253	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2	0	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-3.406998	1	0.170000				205	201		881	863	1		1	0		0	0	184	0		1	3.185128e-01	0	0	0	6	0	205	881
SSTR1	6751	broad.mit.edu	37	14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					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)			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)	GTAGTAAACCTGGGCGTGTGG	0.642																																						ENST00000267377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(535-537)cTg>cCg		somatostatin receptor 1	Octreotide(DB00104)|Pasireotide(DB06663)						78.0	77.0	77.0					14																	38679130		2203	4300	6503	SO:0001583	missense	6751	0	0					g.chr14:38679130T>C		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.536T>C	chr14.hg19:g.38679130T>C	ENSP00000267377:p.Leu179Pro	0						p.L179P	NM_001049.2	NP_001040.1	0	1	1	1.986586	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	3	1153	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)			Missense_Mutation	SNP	ENST00000267377.2	1	1	hg19	c.536T>C	CCDS9666.1	1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370844	0.61624	.	.	ENSG00000139874	ENST00000267377	T	0.42513	0.97	4.82	4.82	0.62117	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000320	T	0.61299	0.2336	M	0.78344	2.41	0.80722	D	1	D	0.54207	0.965	P	0.60886	0.88	T	0.64449	-0.6405	10	0.48119	T	0.1	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	179	P30872	SSR1_HUMAN	P	179	ENSP00000267377:L179P	ENSP00000267377:L179P	L	+	2	0	0	SSTR1	37748881	37748881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	2.034000	0.60081	0.459000	0.35465	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000				73	73		303	298	1		1	0	0	0	0	60	0		1	3.874021e-02	0	0	0	2	1	73	303
CLEC14A	161198	broad.mit.edu	37	14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	312						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		CGGCACGGGGCTGGTTGCAGT	0.627																																						ENST00000342213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(934-936)aGc>aAc		C-type lectin domain family 14, member A							61.0	64.0	63.0					14																	38724293		2203	4299	6502	SO:0001583	missense	161198	0	0					g.chr14:38724293C>T		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.935G>A	chr14.hg19:g.38724293C>T	ENSP00000353013:p.Ser312Asn	0						p.S312N	NM_175060.2	NP_778230.1	0	1	1	1.986586	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	1	1281	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	1	1	hg19	c.935G>A	CCDS9667.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275745	0.40294	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75050	-0.9	3.86	2.96	0.34315	3.86	2.96	0.34315	.	.	.	.	.	T	0.64271	0.2583	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.55153	-0.8185	9	0.49607	T	0.09	-6.6257	9.6415	0.39842	0.0:0.7883:0.2117:0.0	.	312	Q86T13	CLC14_HUMAN	N	312;77	ENSP00000353013:S312N	ENSP00000353013:S312N	S	-	2	0	0	CLEC14A	37794044	37794044	0.479000	0.25925	0.039000	0.18376	0.008000	0.06430	-0.026000	0.12392	1.192000	0.43071	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	1		2	2	2	0		0	0	103		103	98	1	2.060000	-20.000000	1	0.170000	NM_175060			140	136		654	640	1		1	0		0	0	103	0		1	9.994628e-01	0	0	0	53	0	140	654
CLEC14A	161198	broad.mit.edu	37	14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		TTTGTCCCAGCGAGCGCCGAT	0.627																																						ENST00000342213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(700-702)cGc>cAc		C-type lectin domain family 14, member A							109.0	118.0	115.0					14																	38724527		2203	4300	6503	SO:0001583	missense	161198	3	121382	37				g.chr14:38724527C>T		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.701G>A	chr14.hg19:g.38724527C>T	ENSP00000353013:p.Arg234His	0						p.R234H	NM_175060.2	NP_778230.1	0	1	1	1.986586	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	1	1047	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	1	1	hg19	c.701G>A	CCDS9667.1	1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984154	0.02180	.	.	ENSG00000176435	ENST00000342213	T	0.74632	-0.86	4.02	-3.59	0.04583	4.02	-3.59	0.04583	.	.	.	.	.	T	0.46795	0.1411	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35968	-0.9767	9	0.09338	T	0.73	-5.413	7.5425	0.27746	0.0:0.2669:0.1305:0.6025	.	234	Q86T13	CLC14_HUMAN	H	234	ENSP00000353013:R234H	ENSP00000353013:R234H	R	-	2	0	0	CLEC14A	37794278	37794278	0.072000	0.21174	0.026000	0.17262	0.011000	0.07611	-0.732000	0.04904	-0.835000	0.04234	-0.216000	0.12614	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	0		2	2	2	0		0	0	219		219	216	1	2.060000	-20.000000	1	0.170000	NM_175060			307	303		1128	1108	1		1	0		0	0	219	0		1	9.999983e-01	0	0	0	69	0	307	1128
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GAAGGGCGCGCGATAGCTCAA	0.647																																						ENST00000342213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(577-579)cGc>cAc		C-type lectin domain family 14, member A							40.0	41.0	41.0					14																	38724650		2197	4288	6485	SO:0001583	missense	161198	0	0					g.chr14:38724650C>T		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.578G>A	chr14.hg19:g.38724650C>T	ENSP00000353013:p.Arg193His	0						p.R193H	NM_175060.2	NP_778230.1	0	1	1	1.986586	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	1	924	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	1	1	hg19	c.578G>A	CCDS9667.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531589	0.64972	.	.	ENSG00000176435	ENST00000342213	T	0.74526	-0.85	4.13	1.2	0.21068	4.13	1.2	0.21068	.	0.742908	0.11393	N	0.568573	T	0.55081	0.1898	N	0.24115	0.695	0.27874	N	0.939923	B	0.28082	0.2	B	0.21917	0.037	T	0.47935	-0.9078	10	0.51188	T	0.08	-3.0414	4.3188	0.11007	0.181:0.6143:0.0:0.2047	.	193	Q86T13	CLC14_HUMAN	H	193	ENSP00000353013:R193H	ENSP00000353013:R193H	R	-	2	0	0	CLEC14A	37794401	37794401	0.009000	0.17119	0.980000	0.43619	0.982000	0.71751	-0.147000	0.10234	0.268000	0.21939	0.591000	0.81541	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_175060			126	125		496	489	1		1	0		0	0	83	0		1	9.999966e-01	0	0	0	72	0	126	496
CLEC14A	161198	broad.mit.edu	37	14	38724747	38724747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724747G>A	ENST00000342213.2	-	1	827	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		AGGTGGCATCGCATCTCCTTC	0.682																																						ENST00000342213.2	0.510000	0.130000	4.000000e-01	1.900000e-01	0.280000	0.302881	0.280000	0.270000																										0				33						c.(481-483)Cga>Tga		C-type lectin domain family 14, member A							41.0	37.0	39.0					14																	38724747		2199	4293	6492	SO:0001587	stop_gained	161198	0	0					g.chr14:38724747G>A		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.481C>T	chr14.hg19:g.38724747G>A	ENSP00000353013:p.Arg161*	0						p.R161*	NM_175060.2	NP_778230.1	0	1	1	1.986586	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	1	827	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	ENST00000342213.2	0	1	hg19	c.481C>T	CCDS9667.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.498348	0.98322	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	3.91	3.0	0.34707	.	0.665335	0.12618	N	0.453257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4128	10.4834	0.44706	0.0:0.0:0.7906:0.2093	.	.	.	.	X	161	.	ENSP00000353013:R161X	R	-	1	2	2	CLEC14A	37794498	37794498	0.021000	0.18746	0.874000	0.34290	0.844000	0.47949	0.324000	0.19610	1.194000	0.43101	0.591000	0.81541	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	0	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-7.923264	1	0.170000	NM_175060			8	8		333	331	0		1	0		0	0	68	0		9.893244e-01	3.093820e-01	0	0	0	43	0	8	333
SEC23A	10484	broad.mit.edu	37	14	39510075	39510075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	ENST00000307712.6	-	18	2520	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000537403.1_Missense_Mutation_p.R466Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	668					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)			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)		TCCTGACTTCCGCCACTGTGC	0.373																																						ENST00000307712.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2002-2004)cGg>cAg		Sec23 homolog A (S. cerevisiae)							60.0	54.0	56.0					14																	39510075		2203	4300	6503	SO:0001583	missense	10484	0	0					g.chr14:39510075C>T	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.2003G>A	chr14.hg19:g.39510075C>T	ENSP00000306881:p.Arg668Gln	0					SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q|SEC23A_ENST00000537403.1_Missense_Mutation_p.R466Q|SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q	p.R668Q	NM_006364.2	NP_006355.2	0	1	1	1.986586	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	18	2520	-	Hepatocellular(127;0.213)		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	0	1	hg19	c.2003G>A	CCDS9668.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012533	0.75161	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	5.75	5.75	0.90469	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	H	0.94462	3.54	0.80722	D	1	B;B;B	0.26147	0.143;0.105;0.078	B;B;B	0.27380	0.065;0.077;0.079	T	0.69950	-0.5006	10	0.66056	D	0.02	-14.0486	13.1859	0.59680	0.0:0.9274:0.0:0.0726	.	639;566;668	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	Q	466;668;566;639	ENSP00000444193:R466Q;ENSP00000306881:R668Q;ENSP00000437715:R566Q;ENSP00000445393:R639Q	ENSP00000306881:R668Q	R	-	2	0	0	SEC23A	38579826	38579826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.846000	0.62860	2.719000	0.93026	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2	0	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-4.494828	1	0.170000				51	49		158	153	0		1	1		0	0	42	0		1	1	0	49	0	220	0	51	158
PNN	5411	broad.mit.edu	37	14	39650344	39650344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	477	Gln-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)			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)		CTcaacctcagcctcagtctc	0.502																																						ENST00000216832.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1429-1431)caG>caA		pinin, desmosome associated protein							42.0	44.0	44.0					14																	39650344		2203	4300	6503	SO:0001819	synonymous_variant	5411	0	0					g.chr14:39650344G>A	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.1431G>A	chr14.hg19:g.39650344G>A		0					PNN_ENST00000557680.1_Intron	p.Q477Q	NM_002687.3	NP_002678	0	1	1	1.986586	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	9	1498	+	Hepatocellular(127;0.213)		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	1	1	hg19	c.1431G>A	CCDS9671.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-20.000000	1	0.170000	NM_002687			59	56		250	243	1		1	1		0	0	57	0		1	1	0	68	0	159	0	59	250
PNN	5411	broad.mit.edu	37	14	39650731	39650731	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	ENST00000216832.4	+	9	1885	c.1818T>C	c.(1816-1818)agT>agC	p.S606S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	606	Necessary for interaction with PPIG.|Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		gtcgcagtagttccagtagca	0.512																																						ENST00000216832.4	1.000000	0.780000	1	9.900000e-01	0.990000	0.985326	0.990000	1.000000																										0				27						c.(1816-1818)agT>agC		pinin, desmosome associated protein							64.0	56.0	59.0					14																	39650731		2200	4299	6499	SO:0001819	synonymous_variant	5411	0	0					g.chr14:39650731T>C	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.1818T>C	chr14.hg19:g.39650731T>C		0					PNN_ENST00000557680.1_Intron	p.S606S	NM_002687.3	NP_002678	0	1	1	1.986586	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	9	1885	+	Hepatocellular(127;0.213)		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	1	1	hg19	c.1818T>C	CCDS9671.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-18.720440	1	0.170000	NM_002687			11	11		76	71	1		1	1		0	0	29	0		9.981843e-01	9.999999e-01	0	68	0	227	0	11	76
MIA2	117153	broad.mit.edu	37	14	39706205	39706205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	ENST00000280082.3	+	2	394	c.195G>T	c.(193-195)gaG>gaT	p.E65D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	65	SH3.				cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				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)		AGGGAGAAGAGATATCTGTTT	0.363																																						ENST00000280082.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				31						c.(193-195)gaG>gaT		melanoma inhibitory activity 2							87.0	82.0	84.0					14																	39706205		2203	4300	6503	SO:0001583	missense	117153	0	0					g.chr14:39706205G>T	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.195G>T	chr14.hg19:g.39706205G>T	ENSP00000280082:p.Glu65Asp	0					RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	p.E65D	NM_054024.3	NP_473365.3	0	1	1	1.986586	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	2	394	+	Hepatocellular(127;0.213)		A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	1	0	hg19	c.195G>T	CCDS9672.1	1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799117	0.70567	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.26	2.41	0.29592	5.26	2.41	0.29592	.	0.000000	0.38548	N	0.001651	T	0.81029	0.4738	L	0.39898	1.24	0.31873	N	0.61949	D	0.89917	1.0	D	0.77004	0.989	T	0.77536	-0.2551	9	.	.	.	-13.5182	4.4414	0.11575	0.3:0.0:0.5536:0.1464	.	65	Q96PC5-2	.	D	65	ENSP00000451883:E65D;ENSP00000451217:E65D;ENSP00000280082:E65D;ENSP00000451934:E65D;ENSP00000452252:E65D	.	E	+	3	2	2	MIA2;RP11-407N17.3	38775956	38775956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.223000	0.20920	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_054024			33	33		177	175	1		1	1		0	0	45	0		1	8.765315e-01	0	10	0	12	0	33	177
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000298119.4	+	3	1474	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000554171.1_Silent_p.F95F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348										HNSCC(30;0.082)																												ENST00000298119.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				120						c.(283-285)ttC>ttT		leucine rich repeat and fibronectin type III domain containing 5							56.0	57.0	57.0					14																	42356113		2203	4300	6503	SO:0001819	synonymous_variant	145581	12	121412	41				g.chr14:42356113C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.285C>T	chr14.hg19:g.42356113C>T		0	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Silent_p.F95F|LRFN5_ENST00000554120.1_Silent_p.F95F	p.F95F	NM_152447.3	NP_689660.2	0	1	1	1.986586	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	3	1474	+			B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	1	1	hg19	c.285C>T	CCDS9678.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.843630	1	0.170000	NM_152447			40	38		247	244	1		1	0		0	0	48	0		1	1.513245e-01	0	0	0	5	0	40	247
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000298119.4	+	3	1708	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000554120.1_Silent_p.L173L|LRFN5_ENST00000554171.1_Silent_p.L173L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)																												ENST00000298119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(517-519)ttG>ttA		leucine rich repeat and fibronectin type III domain containing 5							85.0	71.0	76.0					14																	42356347		2203	4300	6503	SO:0001819	synonymous_variant	145581	0	0					g.chr14:42356347G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.519G>A	chr14.hg19:g.42356347G>A		0	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Silent_p.L173L|LRFN5_ENST00000554120.1_Silent_p.L173L	p.L173L	NM_152447.3	NP_689660.2	0	1	1	1.986586	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	3	1708	+			B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	1	1	hg19	c.519G>A	CCDS9678.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_152447			43	42		175	172	1		1	0		0	0	41	0		1	4.072398e-02	0	0	0	2	0	43	175
LRFN5	145581	broad.mit.edu	37	14	42356731	42356731	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000298119.4	+	3	2092	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000554120.1_Silent_p.G301G|LRFN5_ENST00000554171.1_Silent_p.G301G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468										HNSCC(30;0.082)																												ENST00000298119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(901-903)ggA>ggG		leucine rich repeat and fibronectin type III domain containing 5							111.0	106.0	107.0					14																	42356731		2203	4300	6503	SO:0001819	synonymous_variant	145581	0	0					g.chr14:42356731A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.903A>G	chr14.hg19:g.42356731A>G		0	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Silent_p.G301G|LRFN5_ENST00000554120.1_Silent_p.G301G	p.G301G	NM_152447.3	NP_689660.2	0	1	1	1.986586	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	3	2092	+			B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	1	1	hg19	c.903A>G	CCDS9678.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_152447			104	101		417	409	1		1	0		0	0	81	0		1	4.061273e-02	0	0	0	2	0	104	417
LRFN5	145581	broad.mit.edu	37	14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403										HNSCC(30;0.082)																												ENST00000298119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(1441-1443)Atg>Gtg		leucine rich repeat and fibronectin type III domain containing 5							177.0	143.0	154.0					14																	42360508		2203	4300	6503	SO:0001583	missense	145581	0	0					g.chr14:42360508A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1441A>G	chr14.hg19:g.42360508A>G	ENSP00000298119:p.Met481Val	0	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.M481V	NM_152447.3	NP_689660.2	0	1	1	1.986586	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	4	2630	+			B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	1	1	hg19	c.1441A>G	CCDS9678.1	1	.	.	.	.	.	.	.	.	.	.	A	7.305	0.613840	0.14066	.	.	ENSG00000165379	ENST00000298119	T	0.67345	-0.26	5.88	3.54	0.40534	5.88	3.54	0.40534	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.44808	0.1311	N	0.22421	0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.33940	T	0.23	.	2.5238	0.04686	0.5668:0.0:0.2343:0.1989	.	481	Q96NI6	LRFN5_HUMAN	V	481	ENSP00000298119:M481V	ENSP00000298119:M481V	M	+	1	0	0	LRFN5	41430258	41430258	0.604000	0.26932	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.045000	0.40225	0.528000	0.53228	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	0		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_152447			151	147		619	612	1		1	0		0	0	146	0		1	3.887000e-02	0	0	0	2	0	151	619
LRFN5	145581	broad.mit.edu	37	14	42360546	42360546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	493	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458										HNSCC(30;0.082)																												ENST00000298119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(1477-1479)ggC>ggT		leucine rich repeat and fibronectin type III domain containing 5							210.0	176.0	187.0					14																	42360546		2203	4300	6503	SO:0001819	synonymous_variant	145581	0	0					g.chr14:42360546C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1479C>T	chr14.hg19:g.42360546C>T		0	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.G493G	NM_152447.3	NP_689660.2	0	1	1	1.986586	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	4	2668	+			B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	1	1	hg19	c.1479C>T	CCDS9678.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	0		2	2	2	0		0	0	156		156	154	1	2.060000	-20.000000	1	0.170000	NM_152447			178	176		734	718	1		1	0		0	0	156	0		1	9.994918e-02	0	0	0	3	0	178	734
FSCB	84075	broad.mit.edu	37	14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	rs75354082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	796						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			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)		TTAGACAAATCTTTAAGGACA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18052	0.001		0.0	False		,,,				2504	0.0					ENST00000340446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(2386-2388)Gat>Aat		fibrous sheath CABYR binding protein							73.0	79.0	77.0					14																	44973805		2202	4300	6502	SO:0001583	missense	84075	0	0					g.chr14:44973805C>T	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.2386G>A	chr14.hg19:g.44973805C>T	ENSP00000344579:p.Asp796Asn	0					RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	p.D796N	NM_032135.3	NP_115511.3	0	1	1	1.986586	Q5H9T9	FSCB_HUMAN		1	2677	-			Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	1	1	hg19	c.2386G>A	CCDS9679.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.86	2.662331	0.47572	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	3.52	0.672	0.17935	3.52	0.672	0.17935	.	.	.	.	.	T	0.18130	0.0435	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.12889	-1.0530	9	0.44086	T	0.13	-6.0457	7.0159	0.24887	0.0:0.6676:0.0:0.3324	.	796	Q5H9T9	FSCB_HUMAN	N	796;689	ENSP00000344579:D796N	ENSP00000344579:D796N	D	-	1	0	0	FSCB	44043555	44043555	0.988000	0.35896	0.003000	0.11579	0.079000	0.17450	0.299000	0.19138	0.134000	0.18681	0.484000	0.47621	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_032135			86	86		440	434	1		1			0	0	115	0		1	0	0	0	0	0	0	86	440
FSCB	84075	broad.mit.edu	37	14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	684						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			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)		AGCTGGTAGAGACTGAACTTC	0.592																																						ENST00000340446.4	0.950000	0.270000	7.500000e-01	4.000000e-01	0.560000	0.583236	0.560000	0.530000																										0				89						c.(2050-2052)tCt>tAt		fibrous sheath CABYR binding protein							32.0	39.0	37.0					14																	44974140		2202	4300	6502	SO:0001583	missense	84075	0	0					g.chr14:44974140G>T	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.2051C>A	chr14.hg19:g.44974140G>T	ENSP00000344579:p.Ser684Tyr	0					RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	p.S684Y	NM_032135.3	NP_115511.3	0	1	1	1.986586	Q5H9T9	FSCB_HUMAN		1	2342	-			Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	1	1	hg19	c.2051C>A	CCDS9679.1	0	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296614	0.23650	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15017	2.46	4.69	0.56	0.17279	4.69	0.56	0.17279	.	.	.	.	.	T	0.20780	0.0500	L	0.53249	1.67	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.11792	-1.0573	9	0.59425	D	0.04	1.4952	4.7706	0.13153	0.1696:0.0:0.5315:0.2988	.	684	Q5H9T9	FSCB_HUMAN	Y	684;577	ENSP00000344579:S684Y	ENSP00000344579:S684Y	S	-	2	0	0	FSCB	44043890	44043890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.068000	0.14531	0.009000	0.14813	-0.362000	0.07510	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	0		2	2	2	0		0	0	28		28	0	1	2.060000	-11.753570	1	0.170000	NM_032135			9	0		184	0	0					0	0	28	0		0	0	0	0	0	0	0	9	184
FSCB	84075	broad.mit.edu	37	14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	410	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			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)		TCTACTTTAGCTGGGGCCTCT	0.512																																						ENST00000340446.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				89						c.(1228-1230)Gct>Act		fibrous sheath CABYR binding protein							38.0	42.0	41.0					14																	44974963		2197	4296	6493	SO:0001583	missense	84075	0	0					g.chr14:44974963C>T	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.1228G>A	chr14.hg19:g.44974963C>T	ENSP00000344579:p.Ala410Thr	0					RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	p.A410T	NM_032135.3	NP_115511.3	0	1	1	1.986586	Q5H9T9	FSCB_HUMAN		1	1519	-			Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	1	1	hg19	c.1228G>A	CCDS9679.1	1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709338	0.30322	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13420	2.59	4.49	-2.33	0.06724	4.49	-2.33	0.06724	.	.	.	.	.	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.22880	0.042	T	0.43877	-0.9364	9	0.14656	T	0.56	-0.4729	2.0042	0.03474	0.1257:0.4363:0.1229:0.3152	.	410	Q5H9T9	FSCB_HUMAN	T	410	ENSP00000344579:A410T	ENSP00000344579:A410T	A	-	1	0	0	FSCB	44044713	44044713	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.358000	0.02604	-0.620000	0.05641	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_032135			46	45		266	261	1		1			0	0	56	0		1	0	0	0	0	0	0	46	266
FSCB	84075	broad.mit.edu	37	14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	ENST00000340446.4	-	1	1133	c.842C>T	c.(841-843)gCg>gTg	p.A281V	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			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)		TCTGGGCTCCGCTTTAGCAGT	0.483													G|||	5	0.000998403	0.003	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000340446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(841-843)gCg>gTg		fibrous sheath CABYR binding protein		G	VAL/ALA	11,4395	17.9+/-39.9	0,11,2192	55.0	57.0	56.0		842	-7.7	0.0	14	dbSNP_134	56	30,8570	20.4+/-63.3	1,28,4271	yes	missense	FSCB	NM_032135.3	64	1,39,6463	AA,AG,GG		0.3488,0.2497,0.3152	benign	281/826	44975349	41,12965	2203	4300	6503	SO:0001583	missense	84075	386	121412	57				g.chr14:44975349G>A	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.842C>T	chr14.hg19:g.44975349G>A	ENSP00000344579:p.Ala281Val	0					RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	p.A281V	NM_032135.3	NP_115511.3	0	1	1	1.986586	Q5H9T9	FSCB_HUMAN		1	1133	-			Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	1	0	hg19	c.842C>T	CCDS9679.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452098	0.01080	0.002497	0.003488	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25414	1.8	3.86	-7.73	0.01245	3.86	-7.73	0.01245	.	.	.	.	.	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.15870	0.014	T	0.12066	-1.0562	9	0.18710	T	0.47	1.4119	6.3551	0.21397	0.1309:0.2257:0.5317:0.1117	.	281	Q5H9T9	FSCB_HUMAN	V	281	ENSP00000344579:A281V	ENSP00000344579:A281V	A	-	2	0	0	FSCB	44045099	44045099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.261000	0.02855	-2.588000	0.00458	-1.224000	0.01588	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	0	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.351578	0	0.170000	NM_032135			78	78		307	299	1		1			0	0	84	0		1	0	0	0	0	0	0	78	307
FAM179B	23116	broad.mit.edu	37	14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361577.3	+	1	239	c.25C>A	c.(25-27)Ctt>Att	p.L9I	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|FAM179B_ENST00000361462.2_Missense_Mutation_p.L9I|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	9										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(25-27)Ctt>Att		family with sequence similarity 179, member B							20.0	23.0	22.0					14																	45431649		2198	4298	6496	SO:0001583	missense	23116	0	0					g.chr14:45431649C>A	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.25C>A	chr14.hg19:g.45431649C>A	ENSP00000355045:p.Leu9Ile	0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.L9I	p.L9I	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	239	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.25C>A	CCDS9681.1	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508303	0.44660	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38240	2.33;2.33;1.15	4.88	2.95	0.34219	4.88	2.95	0.34219	.	0.355039	0.20528	N	0.090567	T	0.24774	0.0601	N	0.24115	0.695	0.19575	N	0.999969	B;B;B;B	0.28760	0.221;0.221;0.221;0.221	B;B;B;B	0.34652	0.121;0.187;0.187;0.187	T	0.18681	-1.0329	10	0.48119	T	0.1	-0.5936	6.3557	0.21400	0.0:0.7529:0.0:0.2471	.	9;9;9;9	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	9	ENSP00000355045:L9I;ENSP00000354917:L9I;ENSP00000371668:L9I	ENSP00000354917:L9I	L	+	1	0	0	FAM179B	44501399	44501399	0.933000	0.31639	0.356000	0.25785	0.748000	0.42578	1.172000	0.31908	0.555000	0.29079	0.655000	0.94253	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	XM_113781			49	47		217	214	1		1	1		0	0	58	0		1	9.160587e-01	0	2	0	19	0	49	217
FAM179B	23116	broad.mit.edu	37	14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A	rs372220648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361577.3	+	1	302	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|FAM179B_ENST00000361462.2_Missense_Mutation_p.A30T|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	30										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(88-90)Gcc>Acc		family with sequence similarity 179, member B							29.0	30.0	29.0					14																	45431712		2203	4300	6503	SO:0001583	missense	23116	0	0					g.chr14:45431712G>A	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.88G>A	chr14.hg19:g.45431712G>A	ENSP00000355045:p.Ala30Thr	0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A30T	p.A30T	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	302	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.88G>A	CCDS9681.1	1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027082	0.19512	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36520	2.47;2.47;1.25	4.88	0.561	0.17285	4.88	0.561	0.17285	.	0.305959	0.23642	N	0.046008	T	0.16300	0.0392	N	0.12182	0.205	0.25685	N	0.98576	B;B;B;B	0.15930	0.015;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.15694	-1.0428	10	0.27082	T	0.32	0.0	6.2572	0.20879	0.4888:0.0:0.5112:0.0	.	30;30;30;30	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	30	ENSP00000355045:A30T;ENSP00000354917:A30T;ENSP00000371668:A30T	ENSP00000354917:A30T	A	+	1	0	0	FAM179B	44501462	44501462	0.955000	0.32602	0.999000	0.59377	0.647000	0.38526	0.783000	0.26802	0.220000	0.20860	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	XM_113781			54	54		151	149	1		1	0		0	0	43	0		1	9.126458e-01	0	1	0	13	0	54	151
FAM179B	23116	broad.mit.edu	37	14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361577.3	+	1	1025	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|FAM179B_ENST00000361462.2_Missense_Mutation_p.E271K|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	271										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(811-813)Gaa>Aaa		family with sequence similarity 179, member B							88.0	93.0	91.0					14																	45432435		2203	4300	6503	SO:0001583	missense	23116	0	0					g.chr14:45432435G>A	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.811G>A	chr14.hg19:g.45432435G>A	ENSP00000355045:p.Glu271Lys	0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.E271K	p.E271K	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	1025	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.811G>A	CCDS9681.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001673	0.74932	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52983	0.64;0.64;0.64	5.05	5.05	0.67936	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000111	T	0.32526	0.0832	N	0.19112	0.55	0.36094	D	0.84367	P;B;B;P	0.42296	0.775;0.167;0.167;0.649	B;B;B;B	0.36666	0.23;0.124;0.085;0.23	T	0.49862	-0.8894	10	0.66056	D	0.02	-15.5345	13.7639	0.62983	0.0:0.0:1.0:0.0	.	271;271;271;271	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	271	ENSP00000355045:E271K;ENSP00000354917:E271K;ENSP00000371668:E271K	ENSP00000354917:E271K	E	+	1	0	0	FAM179B	44502185	44502185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.307000	0.51888	2.619000	0.88677	0.561000	0.74099	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	XM_113781			104	102		466	462	1		1	0		0	0	108	0		1	8.425720e-01	0	1	0	16	0	104	466
FAM179B	23116	broad.mit.edu	37	14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361577.3	+	1	1045	c.831C>A	c.(829-831)ttC>ttA	p.F277L	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|FAM179B_ENST00000361462.2_Missense_Mutation_p.F277L|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	277										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(829-831)ttC>ttA		family with sequence similarity 179, member B							83.0	89.0	87.0					14																	45432455		2203	4300	6503	SO:0001583	missense	23116	0	0					g.chr14:45432455C>A	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.831C>A	chr14.hg19:g.45432455C>A	ENSP00000355045:p.Phe277Leu	0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.F277L	p.F277L	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	1045	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.831C>A	CCDS9681.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534101	0.45073	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.55052	0.54;0.54;0.54	5.05	3.07	0.35406	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000154	T	0.50309	0.1608	N	0.19112	0.55	0.29801	N	0.83247	B;D;D;B	0.58268	0.119;0.982;0.979;0.119	B;D;D;B	0.68943	0.067;0.961;0.92;0.067	T	0.43310	-0.9399	10	0.40728	T	0.16	-9.5516	6.3306	0.21269	0.0:0.7762:0.0:0.2238	.	277;277;277;277	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	277	ENSP00000355045:F277L;ENSP00000354917:F277L;ENSP00000371668:F277L	ENSP00000354917:F277L	F	+	3	2	2	FAM179B	44502205	44502205	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.604000	0.24164	1.354000	0.45846	0.561000	0.74099	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	XM_113781			99	98		465	463	1		1	1		0	0	106	0		1	9.547496e-01	0	4	0	22	0	99	465
FAM179B	23116	broad.mit.edu	37	14	45432488	45432488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361577.3	+	1	1078	c.864C>T	c.(862-864)ggC>ggT	p.G288G	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.G288G|FAM179B_ENST00000361462.2_Silent_p.G288G|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	288										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(862-864)ggC>ggT		family with sequence similarity 179, member B							75.0	80.0	78.0					14																	45432488		2203	4300	6503	SO:0001819	synonymous_variant	23116	0	0					g.chr14:45432488C>T	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.864C>T	chr14.hg19:g.45432488C>T		0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.G288G|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Silent_p.G288G	p.G288G	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	1078	+			Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	1	1	hg19	c.864C>T	CCDS9681.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	XM_113781			104	102		402	397	1		1	1		0	0	98	0		1	9.968128e-01	0	5	0	31	0	104	402
FAM179B	23116	broad.mit.edu	37	14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361577.3	+	1	1868	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|FAM179B_ENST00000361462.2_Missense_Mutation_p.A552T|KLHL28_ENST00000553817.1_5'UTR|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	552										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468																																						ENST00000361577.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1654-1656)Gct>Act		family with sequence similarity 179, member B							118.0	120.0	119.0					14																	45433278		2203	4300	6503	SO:0001583	missense	23116	0	0					g.chr14:45433278G>A	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.1654G>A	chr14.hg19:g.45433278G>A	ENSP00000355045:p.Ala552Thr	0					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.A552T	p.A552T	NM_015091.2	NP_055906.2	0	1	1	1.986586	Q9Y4F4	F179B_HUMAN		1	1868	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.1654G>A	CCDS9681.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413625	0.83449	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04551	3.6;3.6;3.6	4.47	4.47	0.54385	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.16041	0.0386	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	D;D;D;D	0.91635	0.98;0.998;0.999;0.98	T	0.01349	-1.1378	10	0.42905	T	0.14	-12.3087	16.9161	0.86152	0.0:0.0:1.0:0.0	.	552;552;552;552	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	552	ENSP00000355045:A552T;ENSP00000354917:A552T;ENSP00000371668:A552T	ENSP00000354917:A552T	A	+	1	0	0	FAM179B	44503028	44503028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	XM_113781			89	88		436	430	1		1	1		0	0	109	0		1	8.552941e-01	0	5	0	14	0	89	436
PRPF39	55015	broad.mit.edu	37	14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	241					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338																																						ENST00000355765.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(721-723)aGt>aTt		pre-mRNA processing factor 39							175.0	192.0	186.0					14																	45571884		2203	4300	6503	SO:0001583	missense	55015	0	0					g.chr14:45571884G>T	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.722G>T	chr14.hg19:g.45571884G>T	ENSP00000348010:p.Ser241Ile	0						p.S241I	NM_017922.3	NP_060392.3	0	1	1	1.986586	Q86UA1	PRP39_HUMAN		5	892	+			Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	1	1	hg19	c.722G>T	CCDS9682.2	1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.086607	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.67548	0.923;0.952	T	0.55457	-0.8138	10	0.44086	T	0.13	-5.6361	19.5493	0.95311	0.0:0.0:1.0:0.0	.	241;120	Q86UA1;F5H1P0	PRP39_HUMAN;.	I	241;120	ENSP00000348010:S241I	ENSP00000348010:S241I	S	+	2	0	0	PRPF39	44641634	44641634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.728000	0.93425	0.650000	0.86243	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2	0	0	1		2	2	2	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000				145	145		745	733	1		1	1		0	0	212	0		1	9.191677e-01	0	6	0	18	0	145	745
FANCM	57697	broad.mit.edu	37	14	45605403	45605403	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000267430.5	+	1	254	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.L57L|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000542564.2_Silent_p.L57L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	57					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)			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						CGATGATGTGTTGCTTGTCGC	0.632								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5	0.850000	0.370000	7.200000e-01	4.700000e-01	0.590000	0.604709	0.590000	0.580000																										0				85						c.(169-171)Ttg>Ctg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							78.0	76.0	77.0					14																	45605403		2203	4300	6503	SO:0001819	synonymous_variant	57697	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr14:45605403T>C	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.169T>C	chr14.hg19:g.45605403T>C		0					FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.L57L|FANCM_ENST00000542564.2_Silent_p.L57L|FKBP3_ENST00000396062.3_5'Flank	p.L57L	NM_020937.2	NP_065988.1	0	1	1	1.986586	Q8IYD8	FANCM_HUMAN		1	254	+			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	1	1	hg19	c.169T>C	CCDS32070.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-19.997690	1	0.170000	XM_048128			21	21		398	392	0		1	0		0	0	70	0		9.999974e-01	1.659895e-01	0	0	0	14	0	21	398
FANCM	57697	broad.mit.edu	37	14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000267430.5	+	11	1937	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	618	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)			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						TAACAGGCAGGTCCTTCATTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1852-1854)Gtc>Ctc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							107.0	120.0	116.0					14																	45636216		2203	4299	6502	SO:0001583	missense	57697	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr14:45636216G>C	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.1852G>C	chr14.hg19:g.45636216G>C	ENSP00000267430:p.Val618Leu	0					FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	p.V618L	NM_020937.2	NP_065988.1	0	1	1	1.986586	Q8IYD8	FANCM_HUMAN		11	1937	+			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	1	1	hg19	c.1852G>C	CCDS32070.1	1	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064910	0.08388	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.16897	2.78;2.85;2.86;2.31	5.65	2.81	0.32909	5.65	2.81	0.32909	Helicase, C-terminal (1);	0.930262	0.09313	N	0.819360	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.36744	-0.9735	10	0.10902	T	0.67	.	9.4997	0.39011	0.3437:0.0:0.6563:0.0	.	592;618;618	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	618;618;592;134	ENSP00000450596:V618L;ENSP00000267430:V618L;ENSP00000442493:V592L;ENSP00000452033:V134L	ENSP00000267430:V618L	V	+	1	0	0	FANCM	44705966	44705966	0.091000	0.21658	0.908000	0.35775	0.971000	0.66376	1.682000	0.37628	0.859000	0.35456	-0.244000	0.11960	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	XM_048128			119	116		619	603	1		1	0		0	0	116	0		1	3.175833e-01	0	1	0	6	0	119	619
FANCM	57697	broad.mit.edu	37	14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000267430.5	+	14	3380	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1099					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)			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						ACCTAACAATCGTGTTCAAAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(3295-3297)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							51.0	52.0	52.0					14																	45645252		2203	4300	6503	SO:0001583	missense	57697	1	121412	34	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr14:45645252C>T	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.3295C>T	chr14.hg19:g.45645252C>T	ENSP00000267430:p.Arg1099Cys	0					FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	p.R1099C	NM_020937.2	NP_065988.1	0	1	1	1.986586	Q8IYD8	FANCM_HUMAN		14	3380	+			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	1	1	hg19	c.3295C>T	CCDS32070.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.096|2.096	-0.407123|-0.407123	0.04832|0.04832	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17854|.	2.84;2.84;2.25|.	5.41|5.41	3.54|3.54	0.40534|0.40534	5.41|5.41	3.54|3.54	0.40534|0.40534	.|.	1.403590|.	0.03757|.	N|.	0.257590|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|5	0.34782|.	T|.	0.22|.	.|.	4.183|4.183	0.10385|0.10385	0.1626:0.5915:0.1576:0.0882|0.1626:0.5915:0.1576:0.0882	.|.	1073;1099|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	C|L	1099;1073;615|31	ENSP00000267430:R1099C;ENSP00000442493:R1073C;ENSP00000452033:R615C|.	ENSP00000267430:R1099C|.	R|S	+|+	1|2	0|0	0|0	FANCM|FANCM	44715002|44715002	44715002|44715002	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.025000|0.025000	0.11179|0.11179	-0.008000|-0.008000	0.12788|0.12788	0.715000|0.715000	0.32103|0.32103	0.591000|0.591000	0.81541|0.81541	CGT|TCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.237896	1	0.170000	XM_048128			65	63		294	289	1		1	0		0	0	61	0		1	3.015536e-01	0	0	0	6	0	65	294
FANCM	57697	broad.mit.edu	37	14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000267430.5	+	20	5421	c.5336A>C	c.(5335-5337)cAg>cCg	p.Q1779P	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1779	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			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						CCAGTTCCACAGAAGGTATGG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5	0.690000	0.270000	5.800000e-01	3.500000e-01	0.450000	0.469602	0.450000	0.450000																										0				85						c.(5335-5337)cAg>cCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							71.0	74.0	73.0					14																	45658561		2203	4300	6503	SO:0001583	missense	57697	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr14:45658561A>C	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.5336A>C	chr14.hg19:g.45658561A>C	ENSP00000267430:p.Gln1779Pro	0					FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	p.Q1779P	NM_020937.2	NP_065988.1	0	1	1	1.986586	Q8IYD8	FANCM_HUMAN		20	5421	+			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	1	1	hg19	c.5336A>C	CCDS32070.1	0	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714759	0.15306	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.28	-0.183	0.13284	5.28	-0.183	0.13284	.	2.779230	0.01115	N	0.005661	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.30078	T	0.28	.	3.3885	0.07281	0.2996:0.1744:0.0:0.526	.	1753;1779	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	1779;1753;1295	ENSP00000267430:Q1779P;ENSP00000442493:Q1753P;ENSP00000452033:Q1295P	ENSP00000267430:Q1779P	Q	+	2	0	0	FANCM	44728311	44728311	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.677000	0.05215	0.088000	0.17205	-1.328000	0.01277	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-16.115010	1	0.170000	XM_048128			16	15		401	397	0		1	0		0	0	93	0		9.999297e-01	3.139762e-02	0	0	0	7	0	16	401
FANCM	57697	broad.mit.edu	37	14	45667953	45667953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000267430.5	+	22	5908	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_ENST00000542564.2_Silent_p.T1915T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1941	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			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						AAGAAGAAACCGCAGATTTGC	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(5821-5823)acC>acT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							87.0	87.0	87.0					14																	45667953		2203	4300	6503	SO:0001819	synonymous_variant	57697	2	121412	36	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr14:45667953C>T	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.5823C>T	chr14.hg19:g.45667953C>T		0					FANCM_ENST00000542564.2_Silent_p.T1915T	p.T1941T	NM_020937.2	NP_065988.1	0	1	1	1.986586	Q8IYD8	FANCM_HUMAN		22	5908	+			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	1	1	hg19	c.5823C>T	CCDS32070.1	1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557919	0.27827	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.7	-2.24	0.06909	5.7	-2.24	0.06909	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	.	0.468	0.00527	0.3728:0.2053:0.1324:0.2895	.	.	.	.	C	909	.	.	R	+	1	0	0	FANCM	44737703	44737703	0.213000	0.23551	0.955000	0.39395	0.996000	0.88848	-0.980000	0.03770	-1.052000	0.03222	-0.269000	0.10298	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.546170	1	0.170000	XM_048128			82	81		368	362	1		1	1		0	0	81	0		1	7.139961e-01	0	2	0	11	0	82	368
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517																																						ENST00000298283.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(457-459)cGc>cAc		ribosomal protein L10-like							85.0	85.0	85.0					14																	47120482		2203	4300	6503	SO:0001583	missense	140801	19	121412	45				g.chr14:47120482C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.458G>A	chr14.hg19:g.47120482C>T	ENSP00000298283:p.Arg153His	0						p.R153H	NM_080746.2	NP_542784.1	0	1	1	1.986586	Q96L21	RL10L_HUMAN		1	546	-			Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	1	1	hg19	c.458G>A	CCDS32071.1	1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	0	RPL10L	46190232	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000				101	101		385	383	1		1			0	0	95	0		1	0	0	0	0	0	0	101	385
RPL10L	140801	broad.mit.edu	37	14	47120892	47120892	+	Silent	SNP	C	C	T	rs368319202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	16					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537																																						ENST00000298283.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(46-48)ccG>ccA		ribosomal protein L10-like		C		3,4403	6.2+/-15.9	0,3,2200	90.0	95.0	93.0		48	-8.6	0.0	14		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL10L	NM_080746.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		16/215	47120892	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	140801	10	121412	44				g.chr14:47120892C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.48G>A	chr14.hg19:g.47120892C>T		0						p.P16P	NM_080746.2	NP_542784.1	0	1	1	1.986586	Q96L21	RL10L_HUMAN		1	136	-			Q8IUD1	Silent	SNP	ENST00000298283.3	1	1	hg19	c.48G>A	CCDS32071.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1	1	0	1		2	2	2	0		0	0	124		124	114	1	2.060000	-20.000000	1	0.170000				119	114		522	496	1		1			0	0	124	0		1	0	0	0	0	0	0	119	522
MDGA2	161357	broad.mit.edu	37	14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000399232.2	-	15	3027	c.2663T>A	c.(2662-2664)aTt>aAt	p.I888N	MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000426342.1_Missense_Mutation_p.I659N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	888	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323																																						ENST00000399232.2	1.000000	0.790000	1	9.700000e-01	0.990000	0.981240	0.990000	1.000000																										0				76						c.(2662-2664)aTt>aAt		MAM domain containing glycosylphosphatidylinositol anchor 2							136.0	124.0	128.0					14																	47324240		1816	4076	5892	SO:0001583	missense	161357	0	0					g.chr14:47324240A>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2663T>A	chr14.hg19:g.47324240A>T	ENSP00000382178:p.Ile888Asn	0					MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000426342.1_Missense_Mutation_p.I659N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N	p.I888N	NM_001113498.2	NP_001106970.3	0	1	1	1.986586	Q7Z553	MDGA2_HUMAN		15	3027	-			F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	1	1	hg19	c.2663T>A		1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475480	0.26511	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.126462	0.34314	U	0.004061	T	0.01189	0.0039	N	0.02697	-0.525	0.33543	D	0.595187	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.311	0.26475	0.8997:0.0:0.1003:0.0	.	888	Q7Z553	MDGA2_HUMAN	N	888;659;957;90;659	ENSP00000400011:I888N;ENSP00000405456:I659N;ENSP00000382178:I957N;ENSP00000382168:I90N;ENSP00000349925:I659N	ENSP00000349925:I659N	I	-	2	0	0	MDGA2	46393990	46393990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	1.890000	0.54733	0.455000	0.32223	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_182830			24	23		211	205	1		1			0	0	75	0		9.999997e-01	0	0	0	0	0	0	24	211
MDGA2	161357	broad.mit.edu	37	14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000399232.2	-	8	1837	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000426342.1_Missense_Mutation_p.M262I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	491	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408																																						ENST00000399232.2	0.620000	0.320000	5.400000e-01	3.900000e-01	0.460000	0.471628	0.460000	0.460000																										0				76						c.(1471-1473)atG>atA		MAM domain containing glycosylphosphatidylinositol anchor 2							275.0	250.0	258.0					14																	47504353		1971	4173	6144	SO:0001583	missense	161357	0	0					g.chr14:47504353C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1473G>A	chr14.hg19:g.47504353C>T	ENSP00000382178:p.Met491Ile	0					MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000426342.1_Missense_Mutation_p.M262I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	p.M491I	NM_001113498.2	NP_001106970.3	0	1	1	1.986586	Q7Z553	MDGA2_HUMAN		8	1837	-			F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	1	1	hg19	c.1473G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189648	0.57909	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.41465	0.1160	N	0.04018	-0.295	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18263	0.012;0.021	T	0.32798	-0.9893	10	0.15066	T	0.55	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	262;491	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	491;262;560;262	ENSP00000400011:M491I;ENSP00000405456:M262I;ENSP00000382178:M560I;ENSP00000349925:M262I	ENSP00000349925:M262I	M	-	3	0	0	MDGA2	46574103	46574103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.608000	0.88229	0.491000	0.48974	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	1	0	1		2	2	2	0		0	0	153		153	152	1	2.060000	-3.921713	1	0.170000	NM_182830			36	35		876	854	0		1			0	0	153	0		1	0	0	0	0	0	0	36	876
MGAT2	4247	broad.mit.edu	37	14	50088031	50088031	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	15					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672																																						ENST00000305386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(43-45)ctC>ctA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							19.0	22.0	21.0					14																	50088031		2196	4285	6481	SO:0001819	synonymous_variant	4247	0	0					g.chr14:50088031C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.45C>A	chr14.hg19:g.50088031C>A		0					RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	p.L15L	NM_002408.3	NP_002399.1	0	1	1	1.986586	Q10469	MGAT2_HUMAN		1	543	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	1	1	hg19	c.45C>A	CCDS9690.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.245023	1	0.170000	NM_002408			47	47		188	186	0		1	1		0	0	42	0		1	8.001199e-01	0	4	0	10	0	47	188
POLE2	5427	broad.mit.edu	37	14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000216367.5	-	16	1397	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000539565.2_Missense_Mutation_p.S407N|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	433					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|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)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AGCCAAATTGCTGCTAGGAAA	0.318																																						ENST00000216367.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1297-1299)aGc>aAc		polymerase (DNA directed), epsilon 2, accessory subunit	Cladribine(DB00242)						75.0	76.0	76.0					14																	50118009		2203	4300	6503	SO:0001583	missense	5427	4	121410	33				g.chr14:50118009C>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1298G>A	chr14.hg19:g.50118009C>T	ENSP00000216367:p.Ser433Asn	0					POLE2_ENST00000539565.2_Missense_Mutation_p.S407N|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N	p.S433N	NM_002692.3	NP_002683.2	0	1	1	1.986586	P56282	DPOE2_HUMAN		16	1397	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	1	1	hg19	c.1298G>A	CCDS32073.1	1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450900	0.26074	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.52;1.52;1.52	5.73	5.73	0.89815	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.152499	0.64402	D	0.000001	T	0.19525	0.0469	N	0.20685	0.6	0.36970	D	0.893758	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.13495	-1.0507	10	0.25751	T	0.34	-14.4251	10.6341	0.45554	0.0:0.8577:0.0:0.1423	.	433;407;433	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	N	433;407;433	ENSP00000216367:S433N;ENSP00000446313:S407N;ENSP00000451621:S433N	ENSP00000216367:S433N	S	-	2	0	0	POLE2	49187759	49187759	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.097000	0.30988	2.861000	0.98227	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_002692			45	45		151	149	1		1	1		0	0	32	0		1	8.862228e-01	0	2	0	13	0	45	151
KLHDC1	122773	broad.mit.edu	37	14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	386						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284																																						ENST00000359332.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				12						c.(1156-1158)Cga>Tga		kelch domain containing 1							55.0	56.0	55.0					14																	50218425		2203	4299	6502	SO:0001587	stop_gained	122773	5	121400	35				g.chr14:50218425C>T	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1156C>T	chr14.hg19:g.50218425C>T	ENSP00000352282:p.Arg386*	0						p.R386*	NM_172193.2	NP_751943.1	0	1	1	1.986586	Q8N7A1	KLDC1_HUMAN		13	1246	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		B3KXD9|Q8WYI1	Nonsense_Mutation	SNP	ENST00000359332.2	0	1	hg19	c.1156C>T	CCDS9692.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947149	0.92593	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.53	4.62	0.57501	5.53	4.62	0.57501	.	0.106294	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6475	11.2832	0.49208	0.3314:0.6686:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352282:R386X	R	+	1	2	2	KLHDC1	49288175	49288175	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.867000	0.27968	1.280000	0.44463	0.467000	0.42956	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-2.572816	1	0.170000	NM_172193			27	26		121	118	1		1	1		0	0	35	0		1	8.391360e-01	0	3	0	14	0	27	121
SOS2	6655	broad.mit.edu	37	14	50641224	50641224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	ENST00000216373.5	-	8	1290	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	339	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of 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.R339H(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)					CAGCATAAGACGTGGAAGGAC	0.378																																						ENST00000216373.5	1.000000	0.450000	1	6.200000e-01	0.830000	0.817066	0.830000	1.000000																										2	Substitution - Missense(2)	p.R339H(2)	large_intestine(2)	39						c.(1015-1017)cGt>cAt		son of sevenless homolog 2 (Drosophila)							111.0	82.0	92.0					14																	50641224		2203	4300	6503	SO:0001583	missense	6655	4	121410	31				g.chr14:50641224C>T	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.1016G>A	chr14.hg19:g.50641224C>T	ENSP00000216373:p.Arg339His	0					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	p.R339H	NM_006939.2	NP_008870.2	0	1	1	1.986586	Q07890	SOS2_HUMAN		8	1290	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	1	1	hg19	c.1016G>A	CCDS9697.1	0	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347167	0.82022	.	.	ENSG00000100485	ENST00000216373	D	0.92348	-3.02	5.6	4.72	0.59763	5.6	4.72	0.59763	Dbl homology (DH) domain (5);	0.051123	0.85682	D	0.000000	D	0.94159	0.8126	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61275	0.886;0.886	D	0.94482	0.7694	10	0.72032	D	0.01	.	14.443	0.67330	0.0:0.9292:0.0:0.0707	.	369;339	Q59G32;Q07890	.;SOS2_HUMAN	H	339	ENSP00000216373:R339H	ENSP00000216373:R339H	R	-	2	0	0	SOS2	49710974	49710974	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.403000	0.66338	1.368000	0.46115	0.591000	0.81541	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-15.273760	1	0.170000				11	11		145	143	0		1	0		0	0	30	0		9.984153e-01	8.134485e-01	0	1	0	42	0	11	145
L2HGDH	79944	broad.mit.edu	37	14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000267436.4	-	3	720	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|MIR4504_ENST00000577413.1_RNA|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	108					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408																																						ENST00000267436.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(322-324)cTg>cCg		L-2-hydroxyglutarate dehydrogenase							148.0	143.0	145.0					14																	50768820		2203	4300	6503	SO:0001583	missense	79944	0	0					g.chr14:50768820A>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.323T>C	chr14.hg19:g.50768820A>G	ENSP00000267436:p.Leu108Pro	0					L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|MIR4504_ENST00000577413.1_RNA	p.L108P			0	1	1	1.986586	Q9H9P8	L2HDH_HUMAN		3	720	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	1	1	hg19	c.323T>C	CCDS9698.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498281	0.85069	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.55	5.55	0.83447	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.6461	16.008	0.80377	1.0:0.0:0.0:0.0	.	108;108	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	108	ENSP00000261699:L108P;ENSP00000267436:L108P;ENSP00000405559:L108P;ENSP00000450494:L108P;ENSP00000452483:L108P	ENSP00000261699:L108P	L	-	2	0	0	L2HGDH	49838570	49838570	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.089000	0.94137	2.250000	0.74265	0.533000	0.62120	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_024884			101	100		431	416	1		1	1		0	0	85	0		1	9.840968e-01	0	13	0	17	0	101	431
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000395834.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R313Q(2)	large_intestine(2)	12						c.(937-939)cGa>cAa		cyclin-dependent kinase-like 1 (CDC2-related kinase)							285.0	278.0	280.0					14																	50799011		2203	4300	6503	SO:0001583	missense	8814	2	121412	36				g.chr14:50799011C>T	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	chr14.hg19:g.50799011C>T	ENSP00000379176:p.Arg313Gln	0					ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000216378.2_3'UTR	p.R313Q	NM_004196.3	NP_004187.2	0	1	1	1.986586	Q00532	CDKL1_HUMAN		8	965	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	1	1	hg19	c.938G>A	CCDS9699.1	1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	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	0	CDKL1	49868761	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	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000				177	174		837	816	1		1	1		0	0	177	0		1	9.468782e-01	0	7	0	18	0	177	837
ATL1	51062	broad.mit.edu	37	14	51062341	51062341	+	Silent	SNP	G	G	A	rs35629585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51062341G>A	ENST00000358385.6	+	6	862	c.621G>A	c.(619-621)aaG>aaA	p.K207K	ATL1_ENST00000354525.4_Silent_p.K207K|ATL1_ENST00000357032.3_Silent_p.K207K|ATL1_ENST00000441560.2_Silent_p.K207K	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	207	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)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CATTCCTGAAGCCATTTCAGG	0.388													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		14600	0.0		0.0	False		,,,				2504	0.0					ENST00000358385.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(619-621)aaG>aaA		atlastin GTPase 1		G	,,	35,4371	40.0+/-72.8	0,35,2168	111.0	107.0	108.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	621,621,621	-1.4	1.0	14	dbSNP_126	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATL1	NM_001127713.1,NM_015915.4,NM_181598.3	,,	0,35,6468	AA,AG,GG		0.0,0.7944,0.2691	,,	207/554,207/559,207/554	51062341	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	51062	89	121412	52				g.chr14:51062341G>A	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.621G>A	chr14.hg19:g.51062341G>A		0					ATL1_ENST00000354525.4_Silent_p.K207K|ATL1_ENST00000357032.3_Silent_p.K207K|ATL1_ENST00000441560.2_Silent_p.K207K	p.K207K	NM_015915.4	NP_056999.2	0	1	1	1.986586	Q8WXF7	ATLA1_HUMAN		6	862	+			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	1	0	hg19	c.621G>A	CCDS9700.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.175997	1	0.170000				92	89		374	356	1		1	0		0	0	68	0		1	9.948176e-01	0	0	0	35	0	92	374
ATL1	51062	broad.mit.edu	37	14	51094994	51094994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000358385.6	+	12	1606	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000441560.2_Silent_p.I455I	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	455	Sufficient for membrane association.				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)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398																																						ENST00000358385.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1363-1365)atC>atT		atlastin GTPase 1							212.0	179.0	190.0					14																	51094994		2203	4300	6503	SO:0001819	synonymous_variant	51062	0	0					g.chr14:51094994C>T	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.1365C>T	chr14.hg19:g.51094994C>T		0					ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000441560.2_Silent_p.I455I	p.I455I	NM_015915.4	NP_056999.2	0	1	1	1.986586	Q8WXF7	ATLA1_HUMAN		12	1606	+			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	1	1	hg19	c.1365C>T	CCDS9700.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	0	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000				114	113		417	406	1		1	1		0	0	117	0		1	9.638359e-01	0	2	0	20	0	114	417
NIN	51199	broad.mit.edu	37	14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000382041.3	-	20	4863	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000245441.5_Missense_Mutation_p.T1558M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1558					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)			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)					TACAGTTTCCGTTTTTTGCCT	0.274			T	PDGFRB	MPD																																	ENST00000382041.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999372	0.990000	1.000000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(4672-4674)aCg>aTg		ninein (GSK3B interacting protein)							70.0	66.0	67.0					14																	51221342		2198	4293	6491	SO:0001583	missense	51199	3	121344	32				g.chr14:51221342G>A	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.4673C>T	chr14.hg19:g.51221342G>A	ENSP00000371472:p.Thr1558Met	0					NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000245441.5_Missense_Mutation_p.T1558M	p.T1558M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	1	1	1.986586	Q8N4C6	NIN_HUMAN		20	4863	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	1	1	hg19	c.4673C>T	CCDS32079.1	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466720	0.26335	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.11604	3.56;2.76;2.76;3.3;3.3;3.3	4.77	3.63	0.41609	4.77	3.63	0.41609	.	0.570870	0.19028	N	0.124637	T	0.07908	0.0198	N	0.22421	0.69	0.24797	N	0.992728	P;P;P;D;P	0.61080	0.799;0.871;0.709;0.989;0.895	B;B;B;B;B	0.43701	0.159;0.101;0.165;0.428;0.308	T	0.23619	-1.0183	10	0.30078	T	0.28	-4.709	8.8968	0.35470	0.9068:0.0:0.0932:0.0	.	1564;1558;1558;845;1558	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	1558;1541;845;845;1564;1558;1558;1558	ENSP00000245441:T1558M;ENSP00000374518:T845M;ENSP00000371474:T845M;ENSP00000371472:T1558M;ENSP00000324210:T1558M;ENSP00000412391:T1558M	ENSP00000245441:T1558M	T	-	2	0	0	NIN	50291092	50291092	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.796000	0.55507	0.791000	0.33826	-0.471000	0.05019	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-2.903294	1	0.170000	NM_182946			19	18		102	101	1		1	1		0	0	32	0		9.999938e-01	9.996235e-01	0	15	0	58	0	19	102
NIN	51199	broad.mit.edu	37	14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000382041.3	-	18	4004	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.R1272C|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1272					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)			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)					TCATCGTAGCGTGTCTCCATC	0.443			T	PDGFRB	MPD																																	ENST00000382041.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(3814-3816)Cgc>Tgc		ninein (GSK3B interacting protein)							173.0	175.0	175.0					14																	51223934		2203	4300	6503	SO:0001583	missense	51199	1	121412	37				g.chr14:51223934G>A	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.3814C>T	chr14.hg19:g.51223934G>A	ENSP00000371472:p.Arg1272Cys	0					NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000245441.5_Missense_Mutation_p.R1272C	p.R1272C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	1	1	1.986586	Q8N4C6	NIN_HUMAN		18	4004	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	1	1	hg19	c.3814C>T	CCDS32079.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.057|6.057	0.378912|0.378912	0.11466|0.11466	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.09538|0.14893	3.24;2.97;2.97;2.97|2.47;2.48	6.06|6.06	6.06|6.06	0.98353|0.98353	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.445379|.	0.23993|.	N|.	0.042559|.	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19817|.	0.039;0.022;0.038;0.017|.	B;B;B;B|.	0.14578|.	0.007;0.007;0.007;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.54805|0.45353	T|T	0.06|0.12	-3.2342|-3.2342	12.9848|12.9848	0.58586|0.58586	0.0:0.0:0.8387:0.1613|0.0:0.0:0.8387:0.1613	.|.	1278;1272;1272;1272|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	C|M	1272;1255;1278;1272;1272;1272|762	ENSP00000245441:R1272C;ENSP00000371472:R1272C;ENSP00000324210:R1272C;ENSP00000412391:R1272C|ENSP00000374519:T762M;ENSP00000433717:T762M	ENSP00000245441:R1272C|ENSP00000374519:T762M	R|T	-|-	1|2	0|0	0|0	NIN|NIN	50293684|50293684	50293684|50293684	0.009000|0.009000	0.17119|0.17119	0.305000|0.305000	0.25099|0.25099	0.015000|0.015000	0.08874|0.08874	1.696000|1.696000	0.37773|0.37773	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGC|ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_182946			186	183		690	680	1		1	1		0	0	143	0		1	9.996475e-01	0	3	0	42	0	186	690
NIN	51199	broad.mit.edu	37	14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000382041.3	-	18	3708	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.S1173F|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1173					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)			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)					TGAAGCTTCAGACTCCTCTAT	0.493			T	PDGFRB	MPD																																	ENST00000382041.3	0.420000	0.180000	3.600000e-01	2.300000e-01	0.280000	0.297930	0.280000	0.290000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(3517-3519)tCt>tTt		ninein (GSK3B interacting protein)							125.0	130.0	128.0					14																	51224230		2203	4300	6503	SO:0001583	missense	51199	0	0					g.chr14:51224230G>A	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.3518C>T	chr14.hg19:g.51224230G>A	ENSP00000371472:p.Ser1173Phe	0					NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000245441.5_Missense_Mutation_p.S1173F	p.S1173F	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	1	1	1.986586	Q8N4C6	NIN_HUMAN		18	3708	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	1	1	hg19	c.3518C>T	CCDS32079.1	0	.	.	.	.	.	.	.	.	.	.	G	8.869	0.948780	0.18356	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.08282	3.37;3.11;3.11;3.11	5.78	3.91	0.45181	5.78	3.91	0.45181	.	0.571186	0.18572	N	0.137314	T	0.15955	0.0384	M	0.67953	2.075	0.20074	N	0.999934	D;D;D;D	0.56746	0.968;0.968;0.977;0.96	P;P;P;P	0.54100	0.68;0.727;0.742;0.605	T	0.11179	-1.0598	10	0.48119	T	0.1	-6.9812	5.2825	0.15682	0.2186:0.2878:0.4936:0.0	.	1179;1173;1173;1173	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	F	1173;1156;1179;1173;1173;1173	ENSP00000245441:S1173F;ENSP00000371472:S1173F;ENSP00000324210:S1173F;ENSP00000412391:S1173F	ENSP00000245441:S1173F	S	-	2	0	0	NIN	50293980	50293980	0.011000	0.17503	0.912000	0.35992	0.102000	0.19082	0.647000	0.24812	0.761000	0.33130	0.563000	0.77884	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	0	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-2.738324	1	0.170000	NM_182946			21	18		837	824	0		1	0		0	0	163	0		9.999969e-01	2.448533e-01	0	1	0	36	0	21	837
NIN	51199	broad.mit.edu	37	14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000382041.3	-	18	3581	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1131					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)			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)					TGCTTCGTTCGGTTTTGCTGT	0.483			T	PDGFRB	MPD																																	ENST00000382041.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.997726	0.990000	1.000000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(3391-3393)Cga>Tga		ninein (GSK3B interacting protein)							156.0	147.0	150.0					14																	51224357		2203	4300	6503	SO:0001587	stop_gained	51199	1	121412	33				g.chr14:51224357G>A	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.3391C>T	chr14.hg19:g.51224357G>A	ENSP00000371472:p.Arg1131*	0					NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*	p.R1131*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	1	1	1.986586	Q8N4C6	NIN_HUMAN		18	3581	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	0	1	hg19	c.3391C>T	CCDS32079.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.912985|6.912985	0.97932|0.97932	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|.	.|.	.|.	5.56|5.56	2.23|2.23	0.28157|0.28157	5.56|5.56	2.23|2.23	0.28157|0.28157	.|.	.|0.857809	.|0.10228	.|N	.|0.700090	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34354|.	-0.9832|.	3|.	.|0.11182	.|T	.|0.66	0.2394|0.2394	7.5752|7.5752	0.27931|0.27931	0.0905:0.0:0.4837:0.4258|0.0905:0.0:0.4837:0.4258	.|.	.|.	.|.	.|.	L|X	621|1131;1114;1137;1131;1131;1131	.|.	.|ENSP00000245441:R1131X	P|R	-|-	2|1	0|2	0|2	NIN|NIN	50294107|50294107	50294107|50294107	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.419000|0.419000	0.21247|0.21247	0.596000|0.596000	0.29794|0.29794	0.563000|0.563000	0.77884|0.77884	CCG|CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-2.415704	0	0.170000	NM_182946			92	90		822	801	1		1	1		0	0	151	0		1	9.049090e-01	0	3	0	35	0	92	822
NIN	51199	broad.mit.edu	37	14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000382041.3	-	9	1022	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					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)			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)					GTGGTACGTCGTCCACTCTCA	0.498			T	PDGFRB	MPD																																	ENST00000382041.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(832-834)Cga>Tga		ninein (GSK3B interacting protein)							98.0	78.0	85.0					14																	51239168		2203	4300	6503	SO:0001587	stop_gained	51199	0	0					g.chr14:51239168G>A	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.832C>T	chr14.hg19:g.51239168G>A	ENSP00000371472:p.Arg278*	0					NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*	p.R278*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	1	1	1.986586	Q8N4C6	NIN_HUMAN		9	1022	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	0	1	hg19	c.832C>T	CCDS32079.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.661193	0.97743	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.55	3.4	0.38934	5.55	3.4	0.38934	.	0.052990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3615	13.1678	0.59581	0.0:0.0:0.4918:0.5082	.	.	.	.	X	278;278;278;278;284;278;278;278;240	.	ENSP00000245441:R278X	R	-	1	2	2	NIN	50308918	50308918	0.993000	0.37304	0.981000	0.43875	0.757000	0.42996	2.152000	0.42272	1.170000	0.42753	0.563000	0.77884	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_182946			34	33		161	161	1		1	1		0	0	41	0		1	9.816629e-01	0	2	0	31	0	34	161
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000544180.2_Silent_p.T552T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.T586T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTTGTACATCGTGATCACAT	0.512																																						ENST00000216392.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1756-1758)acG>acA		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)						171.0	151.0	158.0					14																	51378884		2203	4300	6503	SO:0001819	synonymous_variant	5836	2	121412	37				g.chr14:51378884C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1758G>A	chr14.hg19:g.51378884C>T		0					PYGL_ENST00000544180.2_Silent_p.T552T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.T586T	p.T586T	NM_002863.4	NP_002854.3	0	1	1	1.986586	P06737	PYGL_HUMAN		14	2090	-	all_epithelial(31;0.00825)|Breast(41;0.148)		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	1	1	hg19	c.1758G>A	CCDS32080.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-3.321764	1	0.170000	NM_002863			138	138		563	551	1		1	1		0	0	143	0		1	1	0	30	0	175	0	138	563
PYGL	5836	broad.mit.edu	37	14	51378995	51378995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.F549F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	549					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CCGTCTCCAGGAACTGAGAAA	0.448																																						ENST00000216392.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1645-1647)ttC>ttT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)						165.0	159.0	161.0					14																	51378995		2203	4300	6503	SO:0001819	synonymous_variant	5836	0	0					g.chr14:51378995G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1647C>T	chr14.hg19:g.51378995G>A		0					PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.F549F	p.F549F	NM_002863.4	NP_002854.3	0	1	1	1.986586	P06737	PYGL_HUMAN		14	1979	-	all_epithelial(31;0.00825)|Breast(41;0.148)		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	1	1	hg19	c.1647C>T	CCDS32080.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_002863			123	120		695	686	0		1	1		0	0	162	0		1	1	0	67	0	116	0	123	695
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A	rs199688614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000544180.2_Silent_p.I429I|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.I463I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TAGTCTTCACGATGTCTGAGT	0.473																																						ENST00000216392.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I463I(1)	large_intestine(1)	25						c.(1387-1389)atC>atT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)						263.0	226.0	239.0					14																	51382068		2203	4300	6503	SO:0001819	synonymous_variant	5836	1	121412	40				g.chr14:51382068G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1389C>T	chr14.hg19:g.51382068G>A		0					PYGL_ENST00000544180.2_Silent_p.I429I|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.I463I	p.I463I	NM_002863.4	NP_002854.3	0	1	1	1.986586	P06737	PYGL_HUMAN		11	1721	-	all_epithelial(31;0.00825)|Breast(41;0.148)		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	1	1	hg19	c.1389C>T	CCDS32080.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_002863			128	125		562	553	1		1	1		0	0	143	0		1	1	0	21	0	137	0	128	562
FRMD6	122786	broad.mit.edu	37	14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000344768.5	+	4	422	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F|FRMD6_ENST00000395718.2_Missense_Mutation_p.L76F|FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	76	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)				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)					GTCACAAAAGCTTTACAAATA	0.308																																						ENST00000344768.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999749	0.990000	1.000000																										0				34						c.(226-228)Ctt>Ttt		FERM domain containing 6							40.0	40.0	40.0					14																	52167809		2200	4297	6497	SO:0001583	missense	122786	0	0					g.chr14:52167809C>T	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.226C>T	chr14.hg19:g.52167809C>T	ENSP00000343899:p.Leu76Phe	0					FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000395718.2_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F	p.L76F			0	1	1	1.986586	Q96NE9	FRMD6_HUMAN		4	422	+	all_epithelial(31;0.0163)|Breast(41;0.089)		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	1	1	hg19	c.226C>T	CCDS58318.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716038	0.89205	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	D;D;D;T;D	0.85013	-1.93;-1.93;-1.93;0.06;-1.77	5.77	5.77	0.91146	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057299	0.64402	D	0.000001	D	0.92456	0.7605	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;D;D	0.74348	0.983;0.978;0.978	D	0.92506	0.6012	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	7;76;76	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	76;76;76;7;7	ENSP00000348550:L76F;ENSP00000379068:L76F;ENSP00000343899:L76F;ENSP00000451453:L7F;ENSP00000451977:L7F	ENSP00000343899:L76F	L	+	1	0	0	FRMD6	51237559	51237559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.951000	0.56684	2.727000	0.93392	0.650000	0.86243	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_152330			15	15		57	56	1		1	1		0	0	22	0		9.999243e-01	9.999924e-01	0	9	0	84	0	15	57
FRMD6	122786	broad.mit.edu	37	14	52182142	52182142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000344768.5	+	10	1145	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000356218.4_Silent_p.L309L|FRMD6_ENST00000395718.2_Silent_p.L309L|FRMD6_ENST00000554167.1_Silent_p.L240L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	317	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)				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)					CCTGCAACTTCTGAGCAACAG	0.542																																						ENST00000344768.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(949-951)Ctg>Ttg		FERM domain containing 6							59.0	62.0	61.0					14																	52182142		2203	4300	6503	SO:0001819	synonymous_variant	122786	0	0					g.chr14:52182142C>T	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.949C>T	chr14.hg19:g.52182142C>T		0					FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000395718.2_Silent_p.L309L|FRMD6_ENST00000356218.4_Silent_p.L309L	p.L317L			0	1	1	1.986586	Q96NE9	FRMD6_HUMAN		10	1145	+	all_epithelial(31;0.0163)|Breast(41;0.089)		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	1	1	hg19	c.949C>T	CCDS58318.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_152330			90	89		329	320	1		1	1		0	0	80	0		1	1	0	19	0	127	0	90	329
NID2	22795	broad.mit.edu	37	14	52493938	52493938	+	Silent	SNP	G	G	A	rs576898863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	ENST00000216286.5	-	12	2654	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	885	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGCCCATCGCCGGCATAAC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.001					ENST00000216286.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				87						c.(2653-2655)ggC>ggT		nidogen 2 (osteonidogen)							36.0	33.0	34.0					14																	52493938		2203	4300	6503	SO:0001819	synonymous_variant	22795	8	121376	34				g.chr14:52493938G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2655C>T	chr14.hg19:g.52493938G>A		0					NID2_ENST00000541773.1_Intron	p.G885G	NM_007361.3	NP_031387.3	0	1	1	1.986586	Q14112	NID2_HUMAN		12	2654	-	Breast(41;0.0639)|all_epithelial(31;0.123)		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	0	1	hg19	c.2655C>T	CCDS9706.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1	0	0	1		20	9	2	1		1	1	19		19	19	1	2.060000	-20.000000	1	0.170000				30	29		115	114	0		1	0		1	0	19	0		9.488391e-01	7.191730e-01	0	0	0	50	0	30	115
NID2	22795	broad.mit.edu	37	14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	158	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667																																						ENST00000216286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(472-474)Gcc>Tcc		nidogen 2 (osteonidogen)							55.0	69.0	64.0					14																	52534638		2176	4264	6440	SO:0001583	missense	22795	0	0					g.chr14:52534638C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.472G>T	chr14.hg19:g.52534638C>A	ENSP00000216286:p.Ala158Ser	0					NID2_ENST00000541773.1_Missense_Mutation_p.A105S	p.A158S	NM_007361.3	NP_031387.3	0	1	1	1.986586	Q14112	NID2_HUMAN		2	471	-	Breast(41;0.0639)|all_epithelial(31;0.123)		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	1	1	hg19	c.472G>T	CCDS9706.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450520	0.84101	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.202722	0.52532	D	0.000080	T	0.47893	0.1470	M	0.88979	2.995	0.31430	N	0.673213	P;D;P	0.53745	0.925;0.962;0.877	P;P;B	0.52672	0.453;0.706;0.265	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.579	0.95458	0.0:1.0:0.0:0.0	.	105;160;158	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	158;105;160	ENSP00000216286:A158S;ENSP00000443730:A105S	ENSP00000216286:A158S	A	-	1	0	0	NID2	51604388	51604388	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	3.463000	0.53050	2.626000	0.88956	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1	1	0	1		2	2	2	0		0	0	172		172	172	1	2.060000	-20.000000	1	0.170000				200	198		785	776	0		1	0		0	0	172	0		1	7.335976e-01	0	0	0	12	0	200	785
PTGDR	5729	broad.mit.edu	37	14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000306051.2	+	1	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	210					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)			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)	CATGGCGCTGCTGGTCCTCGC	0.667																																						ENST00000306051.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(628-630)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						80.0	65.0	70.0					14																	52735160		2203	4300	6503	SO:0001583	missense	5729	0	0					g.chr14:52735160C>A	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.628C>A	chr14.hg19:g.52735160C>A	ENSP00000303424:p.Leu210Met	0					PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	p.L210M	NM_000953.2	NP_000944.1	0	1	1	1.986586	Q13258	PD2R_HUMAN		1	730	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	1	1	hg19	c.628C>A	CCDS9707.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779967	0.49891	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37915	1.17;1.17	4.76	1.85	0.25348	4.76	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001694	T	0.49864	0.1582	M	0.64676	1.99	0.33085	D	0.537101	D	0.76494	0.999	D	0.75484	0.986	T	0.57785	-0.7751	10	0.49607	T	0.09	-7.4508	6.8445	0.23980	0.0:0.5646:0.2759:0.1596	.	210	Q13258	PD2R_HUMAN	M	210	ENSP00000303424:L210M;ENSP00000452408:L210M	ENSP00000303424:L210M	L	+	1	2	2	PTGDR	51804910	51804910	1.000000	0.71417	0.992000	0.48379	0.781000	0.44180	2.025000	0.41059	0.270000	0.21984	-0.302000	0.09304	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_000953			69	68		337	331	1		1	0		0	0	62	0		1	1.396448e-01	0	0	0	4	0	69	337
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000306051.2	+	1	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	267					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)			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)	CCTCCTGCTGCTGGCGCTGAT	0.687																																						ENST00000306051.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(799-801)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						100.0	102.0	102.0					14																	52735331		2180	4253	6433	SO:0001583	missense	5729	0	0					g.chr14:52735331C>A	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.799C>A	chr14.hg19:g.52735331C>A	ENSP00000303424:p.Leu267Met	0					PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	p.L267M	NM_000953.2	NP_000944.1	0	1	1	1.986586	Q13258	PD2R_HUMAN		1	901	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	1	1	hg19	c.799C>A	CCDS9707.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227231	0.58668	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.50001	0.76;0.76	4.38	3.49	0.39957	4.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001857	T	0.61689	0.2367	M	0.73962	2.25	0.41178	D	0.986219	D	0.65815	0.995	D	0.77557	0.99	T	0.60120	-0.7325	10	0.21540	T	0.41	-19.3755	8.2922	0.31965	0.0:0.8143:0.0:0.1857	.	267	Q13258	PD2R_HUMAN	M	267	ENSP00000303424:L267M;ENSP00000452408:L267M	ENSP00000303424:L267M	L	+	1	2	2	PTGDR	51805081	51805081	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.922000	0.40045	1.431000	0.47355	0.563000	0.77884	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	1	0	1		2	2	2	0		0	0	190		190	185	1	2.060000	-20.000000	1	0.170000	NM_000953			244	240		917	904	1		1			0	0	190	0		1	0	0	0	0	0	0	244	917
TXNDC16	57544	broad.mit.edu	37	14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	290					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393																																						ENST00000281741.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(868-870)Gca>Aca		thioredoxin domain containing 16							112.0	114.0	113.0					14																	52957612		2203	4300	6503	SO:0001583	missense	57544	0	0					g.chr14:52957612C>T	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.868G>A	chr14.hg19:g.52957612C>T	ENSP00000281741:p.Ala290Thr	0					TXNDC16_ENST00000554399.1_Intron	p.A290T	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	0	1	1	1.986586	Q9P2K2	TXD16_HUMAN		10	1239	-	Breast(41;0.0716)		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	1	1	hg19	c.868G>A	CCDS32083.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950519	0.92660	.	.	ENSG00000087301	ENST00000281741	T	0.24908	1.83	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.869	T	0.43130	-0.9410	10	0.42905	T	0.14	-20.0312	17.16	0.86801	0.0:1.0:0.0:0.0	.	285;290	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	290	ENSP00000281741:A290T	ENSP00000281741:A290T	A	-	1	0	0	TXNDC16	52027362	52027362	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.958000	0.63660	2.709000	0.92574	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	XM_051699			81	81		437	428	1		1	1		0	0	100	0		1	9.173005e-01	0	2	0	23	0	81	437
TXNDC16	57544	broad.mit.edu	37	14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	230					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333																																						ENST00000281741.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(688-690)Cta>Ata		thioredoxin domain containing 16							162.0	149.0	154.0					14																	52978026		2203	4300	6503	SO:0001583	missense	57544	0	0					g.chr14:52978026G>T	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.688C>A	chr14.hg19:g.52978026G>T	ENSP00000281741:p.Leu230Ile	0					TXNDC16_ENST00000554399.1_Intron	p.L230I	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	0	1	1	1.986586	Q9P2K2	TXD16_HUMAN		9	1059	-	Breast(41;0.0716)		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	1	1	hg19	c.688C>A	CCDS32083.1	1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438796	0.25900	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.13	3.27	0.37495	5.13	3.27	0.37495	.	0.605074	0.16762	N	0.200572	T	0.11452	0.0279	L	0.50919	1.6	0.23943	N	0.996394	B;B	0.31485	0.325;0.214	B;B	0.19391	0.025;0.023	T	0.19679	-1.0298	10	0.19147	T	0.46	-9.7799	4.3288	0.11053	0.1874:0.0:0.6307:0.1819	.	225;230	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	230	ENSP00000281741:L230I	ENSP00000281741:L230I	L	-	1	2	2	TXNDC16	52047776	52047776	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	0.671000	0.25172	1.278000	0.44430	0.460000	0.39030	CTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	XM_051699			69	68		372	369	1		1	1		0	0	76	0		1	9.442887e-01	0	6	0	22	0	69	372
FERMT2	10979	broad.mit.edu	37	14	53348188	53348188	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000341590.3_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TATATACTTCCTAATAAGTAA	0.353																																						ENST00000395631.2	1.000000	0.610000	9.900000e-01	7.200000e-01	0.850000	0.854260	0.850000	1.000000																									ERO1L/FERMT2(2)	0				20						c.e5-1		fermitin family member 2							99.0	100.0	100.0					14																	53348188		2203	4300	6503	SO:0001630	splice_region_variant	10979	0	0					g.chr14:53348188C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.527-1G>T	chr14.hg19:g.53348188C>A		0					FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000341590.3_Splice_Site				0	1	1	1.986586	Q96AC1	FERM2_HUMAN		5	743	-	Breast(41;0.0342)		B5TJY2|Q14840|Q86TY7	Splice_Site	SNP	ENST00000395631.2	1	1	hg19		CCDS9713.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016325	0.75161	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3068	0.98634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FERMT2	52417938	52417938	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.803000	0.96430	0.591000	0.81541	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-2.473696	0	0.170000	NM_006832	Intron		38	36		482	479	0		1			0	0	92	0		1	0	0	0	0	0	0	38	482
DDHD1	80821	broad.mit.edu	37	14	53518626	53518626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	819	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)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATTAAAGAACGATTCTTGAA	0.358																																						ENST00000323669.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997387	0.990000	1.000000																										0				25						c.(2455-2457)tcG>tcA		DDHD domain containing 1							86.0	75.0	78.0					14																	53518626		1564	3580	5144	SO:0001819	synonymous_variant	80821	0	0					g.chr14:53518626C>T	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.2457G>A	chr14.hg19:g.53518626C>T		0					DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	p.S819S	NM_001160148.1	NP_001153620.1	0	1	1	1.986586	Q8NEL9	DDHD1_HUMAN		12	2456	-	Breast(41;0.037)		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	0	1	hg19	c.2457G>A	CCDS53895.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-18.694030	1	0.170000				9	9		34	34	0		1	0		0	0	8	0		9.959164e-01	7.485301e-01	0	1	0	11	0	9	34
DDHD1	80821	broad.mit.edu	37	14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000323669.5	-	5	1336	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R|DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	446					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328																																						ENST00000323669.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1336-1338)cAt>cGt		DDHD domain containing 1							95.0	96.0	96.0					14																	53540518		2203	4300	6503	SO:0001583	missense	80821	0	0					g.chr14:53540518T>C	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.1337A>G	chr14.hg19:g.53540518T>C	ENSP00000327104:p.His446Arg	0					DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R	p.H446R	NM_001160148.1	NP_001153620.1	0	1	1	1.986586	Q8NEL9	DDHD1_HUMAN		5	1336	-	Breast(41;0.037)		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	1	1	hg19	c.1337A>G	CCDS53895.1	1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825067	0.32237	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.779055	0.13146	N	0.410275	T	0.14960	0.0361	N	0.05306	-0.075	0.29132	N	0.879586	B;B;B	0.20887	0.049;0.047;0.005	B;B;B	0.15052	0.012;0.007;0.006	T	0.17319	-1.0373	10	0.13853	T	0.58	-17.3861	10.0733	0.42345	0.2459:0.0:0.0:0.7541	.	453;446;446	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	446;453;446;317	ENSP00000327104:H446R;ENSP00000378970:H453R;ENSP00000350401:H446R	ENSP00000327104:H446R	H	-	2	0	0	DDHD1	52610268	52610268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.878000	0.48515	2.210000	0.71456	0.533000	0.62120	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				76	75		317	309	1		1	1		0	0	67	0		1	9.752135e-01	0	4	0	23	0	76	317
DDHD1	80821	broad.mit.edu	37	14	53558604	53558604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000323669.5	-	4	1187	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000357758.3_Silent_p.A396A|DDHD1_ENST00000395606.1_Silent_p.A403A	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	396					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348																																						ENST00000323669.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1186-1188)gcC>gcT		DDHD domain containing 1							151.0	143.0	146.0					14																	53558604		2203	4300	6503	SO:0001819	synonymous_variant	80821	0	0					g.chr14:53558604G>A	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.1188C>T	chr14.hg19:g.53558604G>A		0					DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000357758.3_Silent_p.A396A	p.A396A	NM_001160148.1	NP_001153620.1	0	1	1	1.986586	Q8NEL9	DDHD1_HUMAN		4	1187	-	Breast(41;0.037)		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	1	1	hg19	c.1188C>T	CCDS53895.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-3.215865	1	0.170000				83	82		330	323	1		1	1		0	0	83	0		1	9.654231e-01	0	9	0	15	0	83	330
BMP4	652	broad.mit.edu	37	14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	211					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537																																						ENST00000245451.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(631-633)cGg>cAg		bone morphogenetic protein 4							111.0	102.0	105.0					14																	54417345		2203	4300	6503	SO:0001583	missense	652	2	121412	37				g.chr14:54417345C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.632G>A	chr14.hg19:g.54417345C>T	ENSP00000245451:p.Arg211Gln	0					BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|MIR5580_ENST00000580850.1_RNA	p.R211Q	NM_001202.3	NP_001193.2	0	1	1	1.986586	P12644	BMP4_HUMAN		4	1025	-			Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	1	1	hg19	c.632G>A	CCDS9715.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013377	0.35511	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64260	-0.09;-0.09	5.09	3.11	0.35812	5.09	3.11	0.35812	Transforming growth factor-beta, N-terminal (1);	0.417987	0.27126	N	0.020803	T	0.49064	0.1535	L	0.41824	1.3	0.30831	N	0.736733	B	0.18310	0.027	B	0.18871	0.023	T	0.51164	-0.8740	10	0.40728	T	0.16	.	8.2551	0.31751	0.0:0.7359:0.0:0.2641	.	211	P12644	BMP4_HUMAN	Q	211	ENSP00000245451:R211Q;ENSP00000394165:R211Q	ENSP00000245451:R211Q	R	-	2	0	0	BMP4	53487095	53487095	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.364000	0.46038	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	1	0	0		2	2	2	0		0	0	104		104	103	1	2.060000	-2.541261	1	0.170000	NM_001202			78	78		446	438	1		1	1		0	0	104	0		1	1	0	54	0	104	0	78	446
BMP4	652	broad.mit.edu	37	14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|BMP4_ENST00000559087.1_Missense_Mutation_p.V190A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	190					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567																																						ENST00000245451.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(568-570)gTg>gCg		bone morphogenetic protein 4							66.0	64.0	65.0					14																	54417408		2203	4300	6503	SO:0001583	missense	652	0	0					g.chr14:54417408A>G	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.569T>C	chr14.hg19:g.54417408A>G	ENSP00000245451:p.Val190Ala	0					BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|MIR5580_ENST00000580850.1_RNA	p.V190A	NM_001202.3	NP_001193.2	0	1	1	1.986586	P12644	BMP4_HUMAN		4	962	-			Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	1	1	hg19	c.569T>C	CCDS9715.1	1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642132	0.00799	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.71103	-0.54;-0.54	5.2	-1.61	0.08399	5.2	-1.61	0.08399	Transforming growth factor-beta, N-terminal (1);	1.161200	0.06292	N	0.699329	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.12430	T	0.62	.	5.6727	0.17731	0.3354:0.1821:0.4825:0.0	.	190	P12644	BMP4_HUMAN	A	190	ENSP00000245451:V190A;ENSP00000394165:V190A	ENSP00000245451:V190A	V	-	2	0	0	BMP4	53487158	53487158	0.002000	0.14202	0.783000	0.31826	0.852000	0.48524	-0.047000	0.11963	-0.143000	0.11334	-0.408000	0.06270	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	0	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_001202			76	74		301	294	1		1	1		0	0	81	0		1	1	0	55	0	105	0	76	301
CDKN3	1033	broad.mit.edu	37	14	54882622	54882622	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54882622A>G	ENST00000335183.6	+	6	536	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000556102.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C	NM_005192.3	NP_005183.2	Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						TTCAGCTGCTATGGAGGACTT	0.343																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000335183.6	0.340000	0.080000	2.700000e-01	1.300000e-01	0.180000	0.202728	0.180000	0.180000																										0				3						c.(421-423)tAt>tGt		cyclin-dependent kinase inhibitor 3							148.0	137.0	141.0					14																	54882622		2203	4300	6503	SO:0001583	missense	1033	1	121410	34				g.chr14:54882622A>G	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000335183.6:c.422A>G	chr14.hg19:g.54882622A>G	ENSP00000335357:p.Tyr141Cys	0					CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000556102.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C	p.Y141C	NM_005192.3	NP_005183.2	0	1	1	1.986586	Q00526	CDK3_HUMAN		6	536	+				Missense_Mutation	SNP	ENST00000335183.6	0	1	hg19	c.422A>G	CCDS9716.1	0	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320151	0.60634	.	.	ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.29	5.29	0.74685	5.29	5.29	0.74685	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121890	0.56097	D	0.000021	T	0.71358	0.3330	M	0.77103	2.36	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.939;0.994	T	0.73307	-0.4024	10	0.48119	T	0.1	-19.5529	13.1044	0.59239	1.0:0.0:0.0:0.0	.	101;141	Q16667-2;Q16667	.;CDKN3_HUMAN	C	141;101;141;141;136;95	ENSP00000335357:Y141C;ENSP00000415333:Y101C;ENSP00000396451:Y141C;ENSP00000450711:Y141C;ENSP00000378944:Y95C	ENSP00000335357:Y141C	Y	+	2	0	0	CDKN3	53952372	53952372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.969000	0.49232	2.225000	0.72522	0.459000	0.35465	TAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CDKN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276893.2	0	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-3.331173	1	0.170000				8	8		505	489	0		1	1		0	0	61	0		9.880231e-01	3.705916e-01	0	3	0	72	0	8	505
CGRRF1	10668	broad.mit.edu	37	14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	258					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423																																						ENST00000216420.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(772-774)gGa>gAa		cell growth regulator with ring finger domain 1							102.0	96.0	98.0					14																	55004875		2203	4300	6503	SO:0001583	missense	10668	0	0					g.chr14:55004875G>A	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.773G>A	chr14.hg19:g.55004875G>A	ENSP00000216420:p.Gly258Glu	0					CGRRF1_ENST00000557512.1_3'UTR	p.G258E	NM_006568.2	NP_006559.1	0	1	1	1.986586	Q99675	CGRF1_HUMAN		6	905	+			Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	1	1	hg19	c.773G>A	CCDS9719.1	1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776869	0.16120	.	.	ENSG00000100532	ENST00000216420	T	0.27104	1.69	5.31	4.4	0.53042	5.31	4.4	0.53042	.	0.255488	0.37809	N	0.001938	T	0.34600	0.0903	L	0.50333	1.59	0.45554	D	0.998509	D	0.63880	0.993	P	0.52793	0.709	T	0.05305	-1.0893	10	0.24483	T	0.36	-17.8994	15.2224	0.73324	0.0:0.0:0.8583:0.1417	.	258	Q99675	CGRF1_HUMAN	E	258	ENSP00000216420:G258E	ENSP00000216420:G258E	G	+	2	0	0	CGRRF1	54074625	54074625	1.000000	0.71417	0.078000	0.20375	0.016000	0.09150	8.490000	0.90464	1.425000	0.47237	0.591000	0.81541	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_006568			61	59		310	307	1		1	1		0	0	75	0		1	1	0	35	0	95	0	61	310
GCH1	2643	broad.mit.edu	37	14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000491895.2	-	3	694	c.506C>T	c.(505-507)gCg>gTg	p.A169V	GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|RNU6ATAC9P_ENST00000516210.1_RNA|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	169					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A169E(1)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438																																					Pancreas(198;1245 2204 4807 21567 38372)	ENST00000491895.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A169E(1)	endometrium(1)	11						c.(505-507)gCg>gTg		GTP cyclohydrolase 1							125.0	108.0	114.0					14																	55326402		2203	4300	6503	SO:0001583	missense	2643	0	0					g.chr14:55326402G>A	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.506C>T	chr14.hg19:g.55326402G>A	ENSP00000419045:p.Ala169Val	0					GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|RNU6ATAC9P_ENST00000516210.1_RNA|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V	p.A169V	NM_000161.2	NP_000152.1	0	1	1	1.986586	P30793	GCH1_HUMAN		3	694	-			Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	1	1	hg19	c.506C>T	CCDS9720.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608521	0.87258	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8	5.1	4.19	0.49359	5.1	4.19	0.49359	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.051000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.937;0.962	D	0.97246	0.9894	10	0.66056	D	0.02	.	14.7219	0.69314	0.0:0.1456:0.8544:0.0	.	169;169;169;169	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	V	169	ENSP00000378890:A169V;ENSP00000444011:A169V;ENSP00000419045:A169V;ENSP00000445246:A169V	ENSP00000378890:A169V	A	-	2	0	0	GCH1	54396152	54396152	1.000000	0.71417	0.870000	0.34147	0.796000	0.44982	9.203000	0.95033	1.339000	0.45563	0.561000	0.74099	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.632048	1	0.170000				41	40		165	163	1		1	1		0	0	57	0		1	9.988940e-01	0	14	0	31	0	41	165
WDHD1	11169	broad.mit.edu	37	14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	457					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)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373																																						ENST00000360586.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1369-1371)tgC>tgA		WD repeat and HMG-box DNA binding protein 1							140.0	116.0	124.0					14																	55455901		2203	4300	6503	SO:0001587	stop_gained	11169	0	0					g.chr14:55455901G>T	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.1371C>A	chr14.hg19:g.55455901G>T	ENSP00000353793:p.Cys457*	0					WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*	p.C457*	NM_007086.3	NP_009017.1	0	1	1	1.986586	O75717	WDHD1_HUMAN		13	1436	-			C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	0	1	hg19	c.1371C>A	CCDS9721.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.669991	0.98908	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.099841	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3974	9.0848	0.36574	0.2059:0.0:0.7941:0.0	.	.	.	.	X	457;334	.	ENSP00000353793:C457X	C	-	3	2	2	WDHD1	54525651	54525651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.181000	0.42547	2.465000	0.83290	0.591000	0.81541	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_007086			47	47		207	203	1		1	1		0	0	42	0		1	7.610681e-01	0	2	0	12	0	47	207
WDHD1	11169	broad.mit.edu	37	14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	321					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)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAATCCTTTTCCACTC	0.274																																						ENST00000360586.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				42						c.(961-963)aaG>aaT		WD repeat and HMG-box DNA binding protein 1							61.0	58.0	59.0					14																	55462511		2203	4300	6503	SO:0001583	missense	11169	0	0					g.chr14:55462511C>A	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.963G>T	chr14.hg19:g.55462511C>A	ENSP00000353793:p.Lys321Asn	0					WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N	p.K321N	NM_007086.3	NP_009017.1	0	1	1	1.986586	O75717	WDHD1_HUMAN		11	1028	-			C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	1	1	hg19	c.963G>T	CCDS9721.1	1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724696	0.30593	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.64803	0.26;-0.12	4.99	1.88	0.25563	4.99	1.88	0.25563	.	0.204668	0.49916	N	0.000137	T	0.46444	0.1393	L	0.49350	1.555	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.28554	-1.0040	10	0.26408	T	0.33	.	2.1706	0.03848	0.2356:0.4012:0.0:0.3632	.	321	O75717	WDHD1_HUMAN	N	321;198	ENSP00000353793:K321N;ENSP00000391049:K198N	ENSP00000353793:K321N	K	-	3	2	2	WDHD1	54532261	54532261	0.933000	0.31639	1.000000	0.80357	0.941000	0.58515	-0.103000	0.10940	0.662000	0.31006	0.561000	0.74099	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.483493	1	0.170000	NM_007086			24	24		109	108	1		1	0		0	0	31	0		9.999998e-01	5.123658e-01	0	0	0	9	0	24	109
SOCS4	122809	broad.mit.edu	37	14	55510090	55510090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55510090C>T	ENST00000395472.2	+	2	663	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					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)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTGTAGTAGTCGGCACTCTTC	0.428																																						ENST00000395472.2	0.360000	0.100000	2.900000e-01	1.500000e-01	0.210000	0.223306	0.210000	0.200000																										0				14						c.(331-333)Cgg>Tgg		suppressor of cytokine signaling 4							79.0	81.0	80.0					14																	55510090		2203	4299	6502	SO:0001583	missense	122809	1	121412	30				g.chr14:55510090C>T	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.331C>T	chr14.hg19:g.55510090C>T	ENSP00000378855:p.Arg111Trp	0					SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W	p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	0	1	1	1.986586	Q8WXH5	SOCS4_HUMAN		2	663	+				Missense_Mutation	SNP	ENST00000395472.2	0	1	hg19	c.331C>T	CCDS9722.1	0	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855838	0.71834	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33438	1.41;1.41;1.41	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.50684	0.1630	L	0.44542	1.39	0.51233	D	0.999913	D	0.89917	1.0	D	0.76071	0.987	T	0.49597	-0.8923	10	0.72032	D	0.01	-13.5262	19.4425	0.94827	0.0:1.0:0.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	W	111	ENSP00000378855:R111W;ENSP00000452522:R111W;ENSP00000341327:R111W	ENSP00000341327:R111W	R	+	1	2	2	SOCS4	54579843	54579843	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	3.459000	0.53021	2.594000	0.87642	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.851301	1	0.170000				10	9		560	554	0		1	0		0	0	103	0		9.967252e-01	2.711434e-01	0	0	0	53	0	10	560
SOCS4	122809	broad.mit.edu	37	14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	440					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)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308																																						ENST00000395472.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1318-1320)tgC>tgA		suppressor of cytokine signaling 4							24.0	23.0	23.0					14																	55511079		2174	4284	6458	SO:0001587	stop_gained	122809	0	0					g.chr14:55511079C>A	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.1320C>A	chr14.hg19:g.55511079C>A	ENSP00000378855:p.Cys440*	0					SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	0	1	1	1.986586	Q8WXH5	SOCS4_HUMAN		2	1652	+				Nonsense_Mutation	SNP	ENST00000395472.2	0	1	hg19	c.1320C>A	CCDS9722.1	1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594096	0.66219	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	4.96	0.996	0.19844	4.96	0.996	0.19844	.	0.537537	0.16649	N	0.205289	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5584	0.22474	0.1332:0.6474:0.0:0.2194	.	.	.	.	X	440	.	ENSP00000341327:C440X	C	+	3	2	2	SOCS4	54580832	54580832	0.786000	0.28738	0.653000	0.29593	0.553000	0.35397	0.658000	0.24979	0.326000	0.23384	0.655000	0.94253	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				36	36		118	117	1		1	1		0	0	24	0		1	9.934234e-01	0	10	0	19	0	36	118
LGALS3	3958	broad.mit.edu	37	14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000254301.9	+	3	583	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	108	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|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 receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGCCCCTATGGCGCCCCTGC	0.612																																						ENST00000254301.9	0.790000	0.230000	6.300000e-01	3.300000e-01	0.460000	0.485622	0.460000	0.430000																										0				3						c.(322-324)Ggc>Tgc		lectin, galactoside-binding, soluble, 3							21.0	23.0	22.0					14																	55605066		1581	3657	5238	SO:0001583	missense	3958	0	0					g.chr14:55605066G>T	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.322G>T	chr14.hg19:g.55605066G>T	ENSP00000254301:p.Gly108Cys	0					LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C|LGALS3_ENST00000553755.1_3'UTR	p.G108C	NM_002306.3	NP_002297.2	0	1	1	1.986586	P17931	LEG3_HUMAN		3	583	+			B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	1	1	hg19	c.322G>T	CCDS41956.1	0	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201404	0.22121	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.09723	3.61;2.95	5.58	3.66	0.41972	5.58	3.66	0.41972	.	2.278500	0.01719	N	0.028192	T	0.15955	0.0384	N	0.14661	0.345	0.19775	N	0.999956	D	0.71674	0.998	P	0.58013	0.831	T	0.30475	-0.9977	10	0.39692	T	0.17	-2.8531	8.0152	0.30376	0.2051:0.0:0.7949:0.0	.	108	P17931	LEG3_HUMAN	C	108	ENSP00000254301:G108C;ENSP00000451381:G108C	ENSP00000254301:G108C	G	+	1	0	0	LGALS3	54674819	54674819	0.466000	0.25823	0.236000	0.24074	0.389000	0.30415	1.162000	0.31786	1.266000	0.44231	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	0	0	0		2	2	2	0		0	0	51		51	39	1	2.060000	-11.006680	1	0.170000	NM_002306			9	8		225	198	0		1	1		0	0	51	0		9.902609e-01	1	0	255	0	2985	0	9	225
DLGAP5	9787	broad.mit.edu	37	14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A	rs565083852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	496					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)			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						TTTATACCTCGTTTATATTCA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		16074	0.001		0.0	False		,,,				2504	0.0					ENST00000247191.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1486-1488)Cga>Tga		discs, large (Drosophila) homolog-associated protein 5							116.0	105.0	109.0					14																	55636179		2203	4300	6503	SO:0001587	stop_gained	9787	1	121410	30				g.chr14:55636179G>A	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.1486C>T	chr14.hg19:g.55636179G>A	ENSP00000247191:p.Arg496*	0					DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	p.R496*	NM_014750.4	NP_055565.3	0	1	1	1.986586	Q15398	DLGP5_HUMAN		12	1702	-			A8MTM6|B4DRM8|Q86T11|Q8NG58	Nonsense_Mutation	SNP	ENST00000247191.2	0	1	hg19	c.1486C>T	CCDS9723.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531200	0.85706	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	5.85	2.93	0.34026	5.85	2.93	0.34026	.	0.242538	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1119	0.42568	0.1297:0.1155:0.7548:0.0	.	.	.	.	X	496	.	ENSP00000247191:R496X	R	-	1	2	2	DLGAP5	54705932	54705932	0.996000	0.38824	0.101000	0.21167	0.009000	0.06853	2.861000	0.48380	0.897000	0.36392	-0.140000	0.14226	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_014750			65	63		306	295	1		1	0		0	0	65	0		1	9.267524e-01	0	1	0	22	0	65	306
FBXO34	55030	broad.mit.edu	37	14	55817495	55817495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413																																						ENST00000313833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(385-387)agT>agC		F-box protein 34							46.0	50.0	49.0					14																	55817495		2202	4300	6502	SO:0001819	synonymous_variant	55030	0	0					g.chr14:55817495T>C	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.387T>C	chr14.hg19:g.55817495T>C		0					FBXO34_ENST00000440021.1_Silent_p.S129S|FBXO34_ENST00000555087.1_3'UTR	p.S129S	NM_017943.3	NP_060413.2	0	1	1	1.986586	Q9NWN3	FBX34_HUMAN		2	632	+			Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	1	1	hg19	c.387T>C	CCDS32086.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				54	54		185	181	1		1	1		0	0	62	0		1	9.999964e-01	0	15	0	53	0	54	185
FBXO34	55030	broad.mit.edu	37	14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T	rs377640813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	309										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAACAGCTTCCGTCGAAATGT	0.537																																						ENST00000313833.4	0.540000	0.240000	4.600000e-01	3.000000e-01	0.370000	0.387096	0.370000	0.370000																										0				22						c.(925-927)Cgt>Tgt		F-box protein 34		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	111.0	112.0		925,925	2.7	0.4	14		112	0,8600		0,0,4300	no	missense,missense	FBXO34	NM_017943.3,NM_152231.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	309/712,309/712	55818033	1,13005	2203	4300	6503	SO:0001583	missense	55030	1	121412	38				g.chr14:55818033C>T	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.925C>T	chr14.hg19:g.55818033C>T	ENSP00000313159:p.Arg309Cys	0					FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	p.R309C	NM_017943.3	NP_060413.2	0	1	1	1.986586	Q9NWN3	FBX34_HUMAN		2	1170	+			Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	1	1	hg19	c.925C>T	CCDS32086.1	0	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481727	0.26598	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.27104	1.69;1.69	5.48	2.7	0.31948	5.48	2.7	0.31948	.	0.643718	0.14116	N	0.340394	T	0.23766	0.0575	M	0.72894	2.215	0.51767	D	0.999938	B	0.32939	0.391	B	0.23419	0.046	T	0.06356	-1.0831	10	0.87932	D	0	-6.6979	5.6371	0.17542	0.1376:0.6488:0.0:0.2136	.	309	Q9NWN3	FBX34_HUMAN	C	309	ENSP00000313159:R309C;ENSP00000394117:R309C	ENSP00000313159:R309C	R	+	1	0	0	FBXO34	54887786	54887786	1.000000	0.71417	0.370000	0.25965	0.046000	0.14306	3.229000	0.51278	0.436000	0.26393	0.650000	0.86243	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	0	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-2.571924	1	0.170000				22	21		667	657	0		1	1		0	0	132	0		9.999985e-01	7.143223e-01	0	6	0	71	0	22	667
FBXO34	55030	broad.mit.edu	37	14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468																																						ENST00000313833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1462-1464)gGt>gAt		F-box protein 34							92.0	91.0	91.0					14																	55818571		2203	4300	6503	SO:0001583	missense	55030	0	0					g.chr14:55818571G>A	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.1463G>A	chr14.hg19:g.55818571G>A	ENSP00000313159:p.Gly488Asp	0					FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	p.G488D	NM_017943.3	NP_060413.2	0	1	1	1.986586	Q9NWN3	FBX34_HUMAN		2	1708	+			Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	1	1	hg19	c.1463G>A	CCDS32086.1	1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495072	0.12762	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.19	1.27	0.21489	5.19	1.27	0.21489	.	0.678775	0.13082	N	0.415215	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	0.999995	B	0.17667	0.023	B	0.16722	0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-21.5041	5.5875	0.17283	0.2199:0.3356:0.4444:0.0	.	488	Q9NWN3	FBX34_HUMAN	D	488	ENSP00000313159:G488D;ENSP00000394117:G488D	ENSP00000313159:G488D	G	+	2	0	0	FBXO34	54888324	54888324	0.584000	0.26766	0.391000	0.26233	0.703000	0.40648	0.752000	0.26362	0.421000	0.25980	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-20.000000	1	0.170000				114	111		503	496	1		1	1		0	0	124	0		1	9.999975e-01	0	19	0	63	0	114	503
KTN1	3895	broad.mit.edu	37	14	56103175	56103175	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000395314.3	+	10	1538	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000395309.3_Silent_p.L490L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	490					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)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403			T	RET	papillary thryoid																																	ENST00000395314.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996281	0.990000	1.000000				Dom	yes			Dom	yes		14	14q22.1	14q22.1	3895	T	kinectin 1 (kinesin receptor)				E	E	RET		papillary thryoid		0				19						c.(1468-1470)ctA>ctG		kinectin 1 (kinesin receptor)							75.0	74.0	74.0					14																	56103175		2203	4300	6503	SO:0001819	synonymous_variant	3895	0	0					g.chr14:56103175A>G		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.1470A>G	chr14.hg19:g.56103175A>G		0					KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L	p.L490L	NM_001079521.1	NP_001072989.1	0	1	1	1.986586	Q86UP2	KTN1_HUMAN		10	1538	+			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	1	1	hg19	c.1470A>G	CCDS41957.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-9.313725	1	0.170000				11	11		56	55	1		1	1		0	0	26	0		9.987051e-01	1	0	150	0	373	0	11	56
OTX2	5015	broad.mit.edu	37	14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000555006.1	-	4	953	c.545C>A	c.(544-546)gCt>gAt	p.A182D	OTX2_ENST00000554788.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|OTX2_ENST00000339475.5_Missense_Mutation_p.A190D|OTX2_ENST00000554559.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	182					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522																																						ENST00000555006.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(544-546)gCt>gAt		orthodenticle homeobox 2							119.0	109.0	112.0					14																	57268778		2203	4300	6503	SO:0001583	missense	5015	0	0					g.chr14:57268778G>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.545C>A	chr14.hg19:g.57268778G>T	ENSP00000452336:p.Ala182Asp	0					OTX2_ENST00000339475.5_Missense_Mutation_p.A190D|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR	p.A182D			0	1	1	1.986586	P32243	OTX2_HUMAN		4	953	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	1	1	hg19	c.545C>A	CCDS41960.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010981	0.54361	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	6.06	5.17	0.71159	6.06	5.17	0.71159	Transcription factor Otx, C-terminal (1);	0.000000	0.42053	D	0.000764	D	0.91915	0.7440	M	0.78049	2.395	0.80722	D	1	P;P	0.49696	0.927;0.775	P;P	0.51742	0.678;0.67	D	0.92564	0.6060	10	0.66056	D	0.02	.	14.119	0.65175	0.0723:0.0:0.9277:0.0	.	190;182	F1T0D1;P32243	.;OTX2_HUMAN	D	190;182;182;190	ENSP00000343819:A190D;ENSP00000386185:A182D;ENSP00000452336:A182D;ENSP00000451357:A190D	ENSP00000343819:A190D	A	-	2	0	0	OTX2	56338531	56338531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.576000	0.49790	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_021728.			75	72		268	258	1		1			0	0	70	0		1	0	0	0	0	0	0	75	268
OTX2	5015	broad.mit.edu	37	14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000555006.1	-	2	415	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000339475.5_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	3					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562																																						ENST00000555006.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				19						c.(7-9)Tct>Cct		orthodenticle homeobox 2							120.0	102.0	108.0					14																	57272168		2203	4300	6503	SO:0001583	missense	5015	0	0					g.chr14:57272168A>G	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.7T>C	chr14.hg19:g.57272168A>G	ENSP00000452336:p.Ser3Pro	0					OTX2_ENST00000339475.5_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P	p.S3P			0	1	1	1.986586	P32243	OTX2_HUMAN		2	415	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	1	1	hg19	c.7T>C	CCDS41960.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028134	0.75390	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000554559;ENST00000555804	D;D;D;D;D	0.92545	-2.94;-2.88;-2.88;-3.06;-3.02	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.000000	0.42294	D	0.000724	D	0.94308	0.8171	M	0.71296	2.17	0.41365	D	0.987455	D;D	0.60160	0.987;0.986	P;P	0.60949	0.828;0.881	D	0.94798	0.7968	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	3;3	F1T0D1;P32243	.;OTX2_HUMAN	P	3	ENSP00000343819:S3P;ENSP00000386185:S3P;ENSP00000452336:S3P;ENSP00000451357:S3P;ENSP00000451272:S3P	ENSP00000343819:S3P	S	-	1	0	0	OTX2	56341921	56341921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	1.947000	0.56498	0.528000	0.53228	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-15.272980	1	0.170000	NM_021728.			24	23		114	110	1		1			0	0	33	0		9.999998e-01	0	0	0	0	0	0	24	114
EXOC5	10640	broad.mit.edu	37	14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A	rs199805336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	68					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GACATTGTTGCTCTAGTTTCT	0.343																																						ENST00000413566.2	0.780000	0.340000	6.600000e-01	4.300000e-01	0.540000	0.554131	0.540000	0.530000																										0				22						c.(202-204)gaG>gaT		exocyst complex component 5							141.0	138.0	139.0					14																	57713495		1831	4082	5913	SO:0001583	missense	10640	0	0					g.chr14:57713495C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.204G>T	chr14.hg19:g.57713495C>A	ENSP00000389934:p.Glu68Asp	0					EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	p.E68D	NM_006544.3	NP_006535.1	0	1	1	1.986586	O00471	EXOC5_HUMAN		3	563	-			B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	1	1	hg19	c.204G>T	CCDS45111.1	0	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945497	0.73672	.	.	ENSG00000070367	ENST00000413566;ENST00000340918;ENST00000556318	T;T	0.55588	0.69;0.51	5.17	-0.086	0.13683	5.17	-0.086	0.13683	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.68317	2.08	0.21064	N	0.999797	D;D	0.63880	0.99;0.993	D;D	0.73380	0.98;0.967	T	0.57300	-0.7835	10	0.09084	T	0.74	-13.5718	10.5882	0.45294	0.0:0.5358:0.0:0.4642	.	68;68	F8W9B8;O00471	.;EXOC5_HUMAN	D	68;68;13	ENSP00000389934:E68D;ENSP00000342100:E68D	ENSP00000342100:E68D	E	-	3	2	2	EXOC5	56783248	56783248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.963000	0.29293	0.024000	0.15214	0.650000	0.86243	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-4.862512	1	0.170000	NM_006544			21	19		437	427	0		1	1		0	0	68	0		9.999969e-01	9.603442e-01	0	7	0	106	0	21	437
SLC35F4	341880	broad.mit.edu	37	14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000339762.6	-	1	108	c.109C>A	c.(109-111)Cca>Aca	p.P37T	SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	37					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATGTCCTGGCTTCCATACC	0.433																																						ENST00000339762.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998272	0.990000	1.000000																										0				24						c.(109-111)Cca>Aca		solute carrier family 35, member F4							122.0	122.0	122.0					14																	58063507		1960	4170	6130	SO:0001583	missense	341880	0	0					g.chr14:58063507G>T			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.109C>A	chr14.hg19:g.58063507G>T	ENSP00000342518:p.Pro37Thr	0					SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron	p.P37T			0	1	1	1.986586	A4IF30	S35F4_HUMAN		1	108	-			A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	1	1	hg19	c.109C>A		1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126237	0.20959	.	.	ENSG00000151812	ENST00000339762	T	0.54866	0.55	4.28	2.44	0.29823	4.28	2.44	0.29823	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36040	-0.9764	8	0.87932	D	0	.	5.848	0.18677	0.104:0.1966:0.6994:0.0	.	37	A4IF30	S35F4_HUMAN	T	37	ENSP00000342518:P37T	ENSP00000342518:P37T	P	-	1	0	0	SLC35F4	57133260	57133260	0.099000	0.21834	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	0.748000	0.32831	0.650000	0.86243	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-11.986290	1	0.170000	XM_292260			21	21		134	131	1		1			0	0	27	0		9.999982e-01	0	0	0	0	0	0	21	134
C14orf37	145407	broad.mit.edu	37	14	58605363	58605363	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502																																						ENST00000267485.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(712-714)ggT>ggG		chromosome 14 open reading frame 37							105.0	90.0	95.0					14																	58605363		2203	4300	6503	SO:0001819	synonymous_variant	145407	0	0					g.chr14:58605363A>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.714T>G	chr14.hg19:g.58605363A>C		0					C14orf37_ENST00000334342.5_5'UTR	p.G238G	NM_001001872.2	NP_001001872.2	0	1	1	1.986586	Q86TY3	CN037_HUMAN		2	908	-			A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	1	1	hg19	c.714T>G	CCDS32089.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_001001872			78	78		314	308	1		1	1		0	0	62	0		1	9.988144e-01	0	6	0	37	0	78	314
C14orf37	145407	broad.mit.edu	37	14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	190						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393																																						ENST00000267485.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(568-570)cAa>cGa		chromosome 14 open reading frame 37							98.0	95.0	96.0					14																	58605508		2203	4300	6503	SO:0001583	missense	145407	0	0					g.chr14:58605508T>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.569A>G	chr14.hg19:g.58605508T>C	ENSP00000267485:p.Gln190Arg	0					C14orf37_ENST00000334342.5_5'UTR	p.Q190R	NM_001001872.2	NP_001001872.2	0	1	1	1.986586	Q86TY3	CN037_HUMAN		2	763	-			A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	1	1	hg19	c.569A>G	CCDS32089.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622137	0.46840	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34859	1.34	6.17	1.06	0.20224	6.17	1.06	0.20224	.	0.540195	0.18131	N	0.150725	T	0.43656	0.1257	M	0.64997	1.995	0.09310	N	1	P;D;P;P	0.59767	0.919;0.986;0.919;0.919	P;P;P;P	0.55391	0.59;0.775;0.59;0.59	T	0.23547	-1.0185	10	0.40728	T	0.16	-0.4011	7.364	0.26762	0.0:0.081:0.4972:0.4217	.	228;190;190;190	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	R	190;228	ENSP00000267485:Q190R	ENSP00000267485:Q190R	Q	-	2	0	0	C14orf37	57675261	57675261	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.207000	0.17395	0.158000	0.19367	0.533000	0.62120	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_001001872			77	77		368	366	1		1	1		0	0	95	0		1	9.856019e-01	0	6	0	28	0	77	368
C14orf37	145407	broad.mit.edu	37	14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	89						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478																																						ENST00000267485.7	0.680000	0.280000	5.800000e-01	3.600000e-01	0.460000	0.476140	0.460000	0.460000																										0				33						c.(265-267)Gca>Tca		chromosome 14 open reading frame 37							140.0	139.0	139.0					14																	58605812		2203	4300	6503	SO:0001583	missense	145407	0	0					g.chr14:58605812C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.265G>T	chr14.hg19:g.58605812C>A	ENSP00000267485:p.Ala89Ser	0					C14orf37_ENST00000334342.5_5'UTR	p.A89S	NM_001001872.2	NP_001001872.2	0	1	1	1.986586	Q86TY3	CN037_HUMAN		2	459	-			A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	1	1	hg19	c.265G>T	CCDS32089.1	0	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341151	0.41498	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	3.98	0.46160	5.82	3.98	0.46160	.	0.702903	0.13150	N	0.409977	T	0.21227	0.0511	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.41848	0.435;0.763;0.435;0.435	B;B;B;B	0.36608	0.124;0.229;0.124;0.124	T	0.05550	-1.0878	10	0.21540	T	0.41	-0.5202	10.1614	0.42853	0.0:0.8479:0.0:0.1521	.	127;89;89;89	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	S	89;127	ENSP00000267485:A89S	ENSP00000267485:A89S	A	-	1	0	0	C14orf37	57675565	57675565	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.728000	0.26013	0.784000	0.33661	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-4.020565	1	0.170000	NM_001001872			19	19		466	456	0		1	0		0	0	86	0		9.999891e-01	1.260944e-01	0	0	0	15	0	19	466
ACTR10	55860	broad.mit.edu	37	14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	272					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318																																						ENST00000254286.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(814-816)Gaa>Aaa		actin-related protein 10 homolog (S. cerevisiae)							84.0	91.0	89.0					14																	58697142		2203	4294	6497	SO:0001583	missense	55860	0	0					g.chr14:58697142G>A	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.814G>A	chr14.hg19:g.58697142G>A	ENSP00000254286:p.Glu272Lys	0						p.E272K	NM_018477.2	NP_060947.1	0	1	1	1.986586	Q9NZ32	ARP10_HUMAN		11	894	+			Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	1	1	hg19	c.814G>A	CCDS32090.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730951	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94330	-3.4	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.088942	0.85682	D	0.000000	D	0.91885	0.7431	L	0.39692	1.235	0.80722	D	1	B;B	0.27910	0.193;0.193	B;B	0.34536	0.185;0.129	D	0.89792	0.3969	10	0.87932	D	0	-8.36	18.9694	0.92709	0.0:0.0:1.0:0.0	.	272;272	Q53H79;Q9NZ32	.;ARP10_HUMAN	K	272	ENSP00000254286:E272K	ENSP00000254286:E272K	E	+	1	0	0	ACTR10	57766895	57766895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.176000	0.94839	2.731000	0.93534	0.549000	0.68633	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.167023	1	0.170000				72	72		355	350	1		1	1		0	0	81	0		1	1	0	78	0	210	0	72	355
ARID4A	5926	broad.mit.edu	37	14	58811415	58811415	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P|ARID4A_ENST00000348476.3_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	303					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)			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						CTTTACAGCCTGAGGAAGAAC	0.333																																						ENST00000355431.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999860	0.990000	1.000000																										0				60						c.(907-909)ccT>ccG		AT rich interactive domain 4A (RBP1-like)							52.0	50.0	51.0					14																	58811415		2203	4300	6503	SO:0001819	synonymous_variant	5926	0	0					g.chr14:58811415T>G	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.909T>G	chr14.hg19:g.58811415T>G		0					ARID4A_ENST00000431317.2_Silent_p.P303P|ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P	p.P303P	NM_002892.3	NP_002883.3	0	1	1	1.986586	P29374	ARI4A_HUMAN		12	1282	+			Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	1	1	hg19	c.909T>G	CCDS9732.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-15.619130	1	0.170000	NM_023001			29	29		166	162	1		1	1		0	0	28	0		1	9.940477e-01	0	12	0	37	0	29	166
ARID4A	5926	broad.mit.edu	37	14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1253					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)			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						AAATGTACTTGCTGTAGAATG	0.458																																						ENST00000355431.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				60						c.(3757-3759)Gct>Act		AT rich interactive domain 4A (RBP1-like)							154.0	121.0	132.0					14																	58838690		2203	4300	6503	SO:0001583	missense	5926	0	0					g.chr14:58838690G>A	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.3757G>A	chr14.hg19:g.58838690G>A	ENSP00000347602:p.Ala1253Thr	0					ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|RP11-517O13.3_ENST00000556390.1_RNA	p.A1253T	NM_002892.3	NP_002883.3	0	1	1	1.986586	P29374	ARI4A_HUMAN		24	4130	+			Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	1	1	hg19	c.3757G>A	CCDS9732.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041641	0.75732	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.46;2.46;2.46	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.10154	-1.0642	10	0.72032	D	0.01	-19.7907	19.087	0.93206	0.0:0.0:1.0:0.0	.	1184;1253;1199	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1253;1184;1199;1184	ENSP00000347602:A1253T;ENSP00000344556:A1184T;ENSP00000378597:A1199T;ENSP00000397368:A1184T	ENSP00000344556:A1184T	A	+	1	0	0	ARID4A	57908443	57908443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_023001			26	26		98	96	1		1	1		0	0	15	0		1	9.986143e-01	0	10	0	33	0	26	98
KIAA0586	9786	broad.mit.edu	37	14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000556134.1	+	22	3194	c.2920G>A	c.(2920-2922)Gcc>Acc	p.A974T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A945T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	974					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)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368																																						ENST00000556134.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				34						c.(2920-2922)Gcc>Acc		KIAA0586							48.0	46.0	47.0					14																	58949251		1850	4102	5952	SO:0001583	missense	9786	1	120798	34				g.chr14:58949251G>A	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.2920G>A	chr14.hg19:g.58949251G>A	ENSP00000452351:p.Ala974Thr	0					KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A945T|KIAA0586_ENST00000538571.2_3'UTR	p.A974T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	0	1	1	1.986586	Q9BVV6	TALD3_HUMAN		22	3194	+			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	1	1	hg19	c.2920G>A	CCDS58321.1	1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643865	0.29246	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.9	1.72	0.24424	5.9	1.72	0.24424	.	0.835333	0.10542	N	0.662544	T	0.38878	0.1057	M	0.72479	2.2	0.09310	N	1	B;B;B;B;B;B	0.32203	0.066;0.066;0.017;0.004;0.116;0.36	B;B;B;B;B;B	0.17722	0.007;0.013;0.003;0.002;0.013;0.019	T	0.16305	-1.0407	10	0.40728	T	0.16	.	11.0398	0.47825	0.272:0.0:0.728:0.0	.	849;849;1042;913;974;945	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1042;974;945;913;849	ENSP00000346359:A1042T;ENSP00000452351:A974T;ENSP00000399427:A945T;ENSP00000261244:A913T	ENSP00000261244:A913T	A	+	1	0	0	KIAA0586	58019004	58019004	1.000000	0.71417	0.016000	0.15963	0.200000	0.23975	2.792000	0.47837	0.323000	0.23307	-0.792000	0.03331	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_014749			26	25		121	117	1		1	1		0	0	27	0		9.999999e-01	9.135551e-01	0	3	0	19	0	26	121
KIAA0586	9786	broad.mit.edu	37	14	58953763	58953763	+	Silent	SNP	G	G	A	rs369590767		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58953763G>A	ENST00000556134.1	+	23	3412	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.T1017T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1046					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)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCCTACGCCTCCTTGCT	0.413																																						ENST00000556134.1	0.610000	0.210000	5.000000e-01	2.900000e-01	0.380000	0.401893	0.380000	0.370000																										0				34						c.(3136-3138)acG>acA		KIAA0586		G		0,3834		0,0,1917	99.0	95.0	96.0		2955	-2.6	1.0	14		96	2,8258		0,2,4128	no	coding-synonymous	KIAA0586	NM_014749.3		0,2,6045	AA,AG,GG		0.0242,0.0,0.0165		985/1473	58953763	2,12092	1917	4130	6047	SO:0001819	synonymous_variant	9786	4	120868	40				g.chr14:58953763G>A	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.3138G>A	chr14.hg19:g.58953763G>A		0					KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000423743.3_Silent_p.T1017T|KIAA0586_ENST00000538571.2_3'UTR	p.T1046T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	0	1	1	1.986586	Q9BVV6	TALD3_HUMAN		23	3412	+			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	0	1	hg19	c.3138G>A	CCDS58321.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.194675	1	0.170000	NM_014749			13	13		388	381	0		1	1		0	0	73	0		9.994871e-01	3.645692e-01	0	2	0	35	0	13	388
DACT1	51339	broad.mit.edu	37	14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000335867.4	+	1	359	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Missense_Mutation_p.R112K|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000541264.2_5'Flank			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	112	Required for self-association. {ECO:0000250}.				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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677																																						ENST00000335867.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997510	0.990000	1.000000																										0				53						c.(334-336)aGa>aAa		dishevelled-binding antagonist of beta-catenin 1							30.0	32.0	31.0					14																	59105255		1973	4143	6116	SO:0001583	missense	51339	0	0					g.chr14:59105255G>A	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.335G>A	chr14.hg19:g.59105255G>A	ENSP00000337439:p.Arg112Lys	0					DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Missense_Mutation_p.R112K|DACT1_ENST00000541264.2_5'Flank|DACT1_ENST00000555845.1_Intron	p.R112K			0	1	1	1.986586	Q9NYF0	DACT1_HUMAN		1	359	+			A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	0	1	hg19	c.335G>A	CCDS9736.1	1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043459	0.07452	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.44482	0.92;0.92	3.3	3.3	0.37823	3.3	3.3	0.37823	.	0.070956	0.49916	D	0.000127	T	0.22399	0.0540	L	0.31420	0.93	0.80722	D	1	B;B	0.31318	0.079;0.319	B;B	0.26416	0.039;0.069	T	0.08166	-1.0735	10	0.02654	T	1	-9.7086	8.7631	0.34687	0.107:0.0:0.893:0.0	.	112;112	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	112	ENSP00000378582:R112K;ENSP00000337439:R112K	ENSP00000337439:R112K	R	+	2	0	0	DACT1	58175008	58175008	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	4.141000	0.58038	1.673000	0.50895	0.313000	0.20887	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_016651			16	16		95	92	1		1	0		0	0	14	0		9.999454e-01	9.640726e-01	0	0	0	36	0	16	95
DACT1	51339	broad.mit.edu	37	14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000335867.4	+	4	760	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000541264.2_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	246					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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468																																						ENST00000335867.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(736-738)Gtc>Atc		dishevelled-binding antagonist of beta-catenin 1							161.0	147.0	152.0					14																	59112077		2203	4300	6503	SO:0001583	missense	51339	0	0					g.chr14:59112077G>A	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.736G>A	chr14.hg19:g.59112077G>A	ENSP00000337439:p.Val246Ile	0					DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000555845.1_Intron	p.V246I			0	1	1	1.986586	Q9NYF0	DACT1_HUMAN		4	760	+			A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	1	1	hg19	c.736G>A	CCDS9736.1	1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153085	0.38021	.	.	ENSG00000165617	ENST00000335867	T	0.44482	0.92	5.71	4.8	0.61643	5.71	4.8	0.61643	.	0.288933	0.33438	N	0.004919	T	0.40094	0.1103	M	0.65975	2.015	0.80722	D	1	B	0.28350	0.208	B	0.25759	0.063	T	0.32693	-0.9897	10	0.08179	T	0.78	-18.6973	16.529	0.84353	0.0:0.1309:0.8691:0.0	.	246	Q9NYF0	DACT1_HUMAN	I	246	ENSP00000337439:V246I	ENSP00000337439:V246I	V	+	1	0	0	DACT1	58181830	58181830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.382000	0.46385	0.563000	0.77884	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_016651			75	73		378	374	1		1	0		0	0	76	0		1	9.753790e-01	0	0	0	32	0	75	378
DACT1	51339	broad.mit.edu	37	14	59112781	59112781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112781G>T	ENST00000335867.4	+	4	1464	c.1440G>T	c.(1438-1440)caG>caT	p.Q480H	DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000395153.3_Missense_Mutation_p.Q443H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	480					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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAAGCGCTCAGCTCTCAGGGG	0.557																																						ENST00000335867.4	0.470000	0.190000	4.000000e-01	2.500000e-01	0.310000	0.327660	0.310000	0.310000																										0				53						c.(1438-1440)caG>caT		dishevelled-binding antagonist of beta-catenin 1							54.0	65.0	61.0					14																	59112781		2203	4300	6503	SO:0001583	missense	51339	0	0					g.chr14:59112781G>T	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.1440G>T	chr14.hg19:g.59112781G>T	ENSP00000337439:p.Gln480His	0					DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000395153.3_Missense_Mutation_p.Q443H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H	p.Q480H			0	1	1	1.986586	Q9NYF0	DACT1_HUMAN		4	1464	+			A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	1	1	hg19	c.1440G>T	CCDS9736.1	0	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633905	0.03584	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.35	1.47	0.22746	5.35	1.47	0.22746	.	0.528596	0.21428	N	0.074714	T	0.41743	0.1172	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39187	-0.9626	10	0.54805	T	0.06	-2.8615	7.1379	0.25539	0.2076:0.1239:0.6685:0.0	.	443;480	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	199;199;443;480;199	ENSP00000451598:Q199H;ENSP00000378581:Q199H;ENSP00000378582:Q443H;ENSP00000337439:Q480H;ENSP00000442850:Q199H	ENSP00000337439:Q480H	Q	+	3	2	2	DACT1	58182534	58182534	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.210000	0.09345	0.250000	0.21479	-0.244000	0.11960	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	0	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-3.512256	1	0.170000	NM_016651			19	19		689	676	0		1	0		0	0	134	0		9.999888e-01	4.723623e-01	0	0	0	57	0	19	689
DAAM1	23002	broad.mit.edu	37	14	59730276	59730276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	27					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473																																						ENST00000395125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(79-81)acG>acA		dishevelled associated activator of morphogenesis 1							143.0	127.0	133.0					14																	59730276		2203	4300	6503	SO:0001819	synonymous_variant	23002	2	121412	34				g.chr14:59730276G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.81G>A	chr14.hg19:g.59730276G>A		0					DAAM1_ENST00000360909.3_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T	p.T27T	NM_014992.2	NP_055807.1	0	1	1	1.986586	Q9Y4D1	DAAM1_HUMAN		1	104	+			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	1	1	hg19	c.81G>A	CCDS9737.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-20.000000	1	0.170000	NM_014992			97	97		421	415	1		1	1		0	0	87	0		1	9.997655e-01	0	12	0	43	0	97	421
DAAM1	23002	broad.mit.edu	37	14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	489					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448																																						ENST00000395125.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				37						c.(1465-1467)aaA>aaC		dishevelled associated activator of morphogenesis 1							90.0	88.0	89.0					14																	59797313		2203	4300	6503	SO:0001583	missense	23002	0	0					g.chr14:59797313A>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1467A>C	chr14.hg19:g.59797313A>C	ENSP00000378557:p.Lys489Asn	0					DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N|DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N	p.K489N	NM_014992.2	NP_055807.1	0	1	1	1.986586	Q9Y4D1	DAAM1_HUMAN		12	1490	+			Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	1	1	hg19	c.1467A>C	CCDS9737.1	1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158223	0.38119	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.33216	1.42;1.42;1.42	5.98	1.19	0.21007	5.98	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.16928	-1.0386	10	0.38643	T	0.18	.	8.9768	0.35941	0.5712:0.0:0.4288:0.0	.	489;489	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	489	ENSP00000354162:K489N;ENSP00000247170:K489N;ENSP00000378557:K489N	ENSP00000247170:K489N	K	+	3	2	2	DAAM1	58867066	58867066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.139000	0.42149	0.181000	0.19994	-0.256000	0.11100	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014992			52	52		286	285	1		1	1		0	0	51	0		1	9.812841e-01	0	6	0	31	0	52	286
DAAM1	23002	broad.mit.edu	37	14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	712	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373																																						ENST00000395125.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.989402	0.990000	1.000000																										0				37						c.(2134-2136)Cgg>Tgg		dishevelled associated activator of morphogenesis 1							79.0	69.0	72.0					14																	59814285		2203	4300	6503	SO:0001583	missense	23002	2	121410	34				g.chr14:59814285C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2134C>T	chr14.hg19:g.59814285C>T	ENSP00000378557:p.Arg712Trp	0					DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000553966.1_3'UTR	p.R712W	NM_014992.2	NP_055807.1	0	1	1	1.986586	Q9Y4D1	DAAM1_HUMAN		17	2157	+			Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	1	1	hg19	c.2134C>T	CCDS9737.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261330	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.35236	1.32;1.32;1.32	6.06	5.16	0.70880	6.06	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.978;0.995	T	0.73799	-0.3869	10	0.72032	D	0.01	.	16.6315	0.85035	0.131:0.869:0.0:0.0	.	702;712	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	702;712;712;712	ENSP00000354162:R702W;ENSP00000247170:R712W;ENSP00000378557:R712W	ENSP00000247170:R712W	R	+	1	2	2	DAAM1	58884038	58884038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.930000	0.48924	1.523000	0.49018	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_014992			21	21		167	164	1		1	1		0	0	42	0		9.999980e-01	9.839707e-01	0	10	0	46	0	21	167
DAAM1	23002	broad.mit.edu	37	14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1041	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413																																						ENST00000395125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3121-3123)cGc>cTc		dishevelled associated activator of morphogenesis 1							125.0	118.0	120.0					14																	59835462		2203	4300	6503	SO:0001583	missense	23002	0	0					g.chr14:59835462G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3122G>T	chr14.hg19:g.59835462G>T	ENSP00000378557:p.Arg1041Leu	0					DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000553966.1_3'UTR	p.R1041L	NM_014992.2	NP_055807.1	0	1	1	1.986586	Q9Y4D1	DAAM1_HUMAN		25	3145	+			Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	1	1	hg19	c.3122G>T	CCDS9737.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842526	0.91197	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82344	-1.6;-1.6;-1.6	5.64	5.64	0.86602	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.050738	0.85682	D	0.000000	D	0.91382	0.7281	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91773	0.5429	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1031;1041	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	1031;1041;1041	ENSP00000354162:R1031L;ENSP00000247170:R1041L;ENSP00000378557:R1041L	ENSP00000247170:R1041L	R	+	2	0	0	DAAM1	58905215	58905215	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_014992			51	51		185	179	1		1	1		0	0	40	0		1	9.999571e-01	0	13	0	45	0	51	185
RTN1	6252	broad.mit.edu	37	14	60074020	60074020	+	Silent	SNP	G	G	A	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000267484.5	-	4	2291	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Silent_p.D84D	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	652	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				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)		GGTGGCCTTCGTCGGTTTTCT	0.562													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0					ENST00000267484.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				49						c.(1954-1956)gaC>gaT		reticulon 1		G	,,	15,4391	22.3+/-47.3	0,15,2188	71.0	62.0	65.0		1956,252,696	-0.4	1.0	14	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RTN1	NM_021136.2,NM_206852.2,NM_206857.1	,,	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,	652/777,84/209,232/357	60074020	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	6252	30	121412	45				g.chr14:60074020G>A	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.1956C>T	chr14.hg19:g.60074020G>A		0					RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000342503.4_Silent_p.D84D	p.D652D	NM_021136.2	NP_066959.1	0	1	1	1.986586	Q16799	RTN1_HUMAN		4	2291	-			Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	1	1	hg19	c.1956C>T	CCDS9740.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.531284	1	0.170000				28	28		121	119	1		1	0		0	0	21	0		1	9.823990e-01	0	0	0	31	0	28	121
RTN1	6252	broad.mit.edu	37	14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	273					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				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)		CTGAGGAGCCCTGCGCTGTTC	0.453																																						ENST00000267484.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(817-819)aGg>aAg		reticulon 1							135.0	129.0	131.0					14																	60212623		2203	4300	6503	SO:0001583	missense	6252	0	0					g.chr14:60212623C>T	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.818G>A	chr14.hg19:g.60212623C>T	ENSP00000267484:p.Arg273Lys	0						p.R273K	NM_021136.2	NP_066959.1	0	1	1	1.986586	Q16799	RTN1_HUMAN		2	1153	-			Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	1	1	hg19	c.818G>A	CCDS9740.1	1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390455	0.11581	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22134	1.97	5.53	0.326	0.15908	5.53	0.326	0.15908	.	1.177410	0.05768	N	0.606107	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.28427	-1.0044	10	0.05525	T	0.97	.	1.0774	0.01635	0.2215:0.3573:0.1084:0.3128	.	273	Q16799	RTN1_HUMAN	K	273;199	ENSP00000267484:R273K	ENSP00000267484:R273K	R	-	2	0	0	RTN1	59282376	59282376	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.556000	0.23438	0.036000	0.15547	-0.259000	0.10710	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.044711	1	0.170000				117	113		549	538	1		1	0		0	0	114	0		1	9.616826e-01	0	0	0	27	0	117	549
C14orf39	317761	broad.mit.edu	37	14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	489					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					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)		TACAGAAGAATCAAATAAATT	0.308																																						ENST00000321731.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(1465-1467)gAt>gGt		chromosome 14 open reading frame 39							47.0	51.0	50.0					14																	60921756		2201	4284	6485	SO:0001583	missense	317761	0	0					g.chr14:60921756T>C	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.1466A>G	chr14.hg19:g.60921756T>C	ENSP00000324920:p.Asp489Gly	0						p.D489G	NM_174978.2	NP_777638	0	1	1	1.986586	Q8N1H7	S6OS1_HUMAN		16	1625	-			Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	1	1	hg19	c.1466A>G	CCDS9746.1	1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002911	0.35320	.	.	ENSG00000179008	ENST00000321731	T	0.32023	1.47	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.082515	0.52532	D	0.000080	T	0.53158	0.1779	M	0.67953	2.075	0.44345	D	0.997235	D	0.76494	0.999	D	0.74674	0.984	T	0.56195	-0.8019	10	0.87932	D	0	-20.2714	13.5881	0.61944	0.0:0.0:0.0:1.0	.	489	Q8N1H7	S6OS1_HUMAN	G	489	ENSP00000324920:D489G	ENSP00000324920:D489G	D	-	2	0	0	C14orf39	59991509	59991509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.234000	0.73211	0.459000	0.35465	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_174978			39	38		189	186	1		1			0	0	100	0		1	0	0	0	0	0	0	39	189
SIX6	4990	broad.mit.edu	37	14	60977961	60977961	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	244					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACAGCGAGTGCGACATCTGAG	0.557																																						ENST00000327720.5	1.000000	0.660000	1	7.900000e-01	0.950000	0.917531	0.950000	1.000000																										0				11						c.(730-732)tgC>tgT		SIX homeobox 6							41.0	41.0	41.0					14																	60977961		2202	4298	6500	SO:0001819	synonymous_variant	4990	0	0					g.chr14:60977961C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.732C>T	chr14.hg19:g.60977961C>T		0						p.C244C	NM_007374.2	NP_031400.2	0	1	1	1.986586	O95475	SIX6_HUMAN		2	1180	+			Q6NT42|Q9P1X8	Silent	SNP	ENST00000327720.5	1	1	hg19	c.732C>T	CCDS9747.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.142702	1	0.170000				30	30		337	329	0		1			0	0	81	0		1	0	0	0	0	0	0	30	337
SIX1	6495	broad.mit.edu	37	14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000247182.6	-	2	868	c.596A>G	c.(595-597)aAg>aGg	p.K199R	SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	199					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGGTTCTGCTTGTTGGAGGA	0.428																																						ENST00000247182.6	0.690000	0.240000	5.700000e-01	3.300000e-01	0.430000	0.454186	0.430000	0.430000																										0				13						c.(595-597)aAg>aGg		SIX homeobox 1							88.0	77.0	81.0					14																	61113260		2203	4300	6503	SO:0001583	missense	6495	0	0					g.chr14:61113260T>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.596A>G	chr14.hg19:g.61113260T>C	ENSP00000247182:p.Lys199Arg	0					SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	p.K199R	NM_005982.3	NP_005973.1	0	1	1	1.986586	Q15475	SIX1_HUMAN		2	868	-			Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	1	1	hg19	c.596A>G	CCDS9748.1	0	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010109	0.93346	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.86956	-2.19;-2.18;-2.18	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.045211	0.85682	D	0.000000	T	0.78641	0.4315	N	0.24115	0.695	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.72915	-0.4147	10	0.16896	T	0.51	-23.9489	15.22	0.73303	0.0:0.0:0.0:1.0	.	199	Q15475	SIX1_HUMAN	R	199;15;15	ENSP00000247182:K199R;ENSP00000450952:K15R;ENSP00000450739:K15R	ENSP00000247182:K199R	K	-	2	0	0	SIX1	60183013	60183013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.815000	0.69215	2.177000	0.69029	0.533000	0.62120	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-13.643730	1	0.170000				13	13		341	334	0		1	1		0	0	58	0		9.994933e-01	3.010771e-01	0	3	0	25	0	13	341
SIX1	6495	broad.mit.edu	37	14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000247182.6	-	1	724	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	151					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662																																						ENST00000247182.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(451-453)cCg>cTg		SIX homeobox 1							53.0	51.0	52.0					14																	61115456		2203	4300	6503	SO:0001583	missense	6495	0	0					g.chr14:61115456G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.452C>T	chr14.hg19:g.61115456G>A	ENSP00000247182:p.Pro151Leu	0					SIX1_ENST00000554986.1_Intron	p.P151L	NM_005982.3	NP_005973.1	0	1	1	1.986586	Q15475	SIX1_HUMAN		1	724	-			Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	1	1	hg19	c.452C>T	CCDS9748.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.344548	0.95807	.	.	ENSG00000126778	ENST00000247182	D	0.95918	-3.85	5.97	5.97	0.96955	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97063	0.9772	10	0.87932	D	0	-26.2444	20.0189	0.97489	0.0:0.0:1.0:0.0	.	151	Q15475	SIX1_HUMAN	L	151	ENSP00000247182:P151L	ENSP00000247182:P151L	P	-	2	0	0	SIX1	60185209	60185209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.797000	0.99108	2.828000	0.97474	0.655000	0.94253	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000				55	55		252	251	1		1	1		0	0	64	0		1	9.080404e-01	0	5	0	16	0	55	252
SIX4	51804	broad.mit.edu	37	14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	653					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)			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)		GACAGATGTCACAGTAGATTT	0.483																																						ENST00000216513.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998789	0.990000	1.000000																										0				28						c.(1957-1959)gTg>gCg		SIX homeobox 4							128.0	104.0	112.0					14																	61180513		2203	4300	6503	SO:0001583	missense	51804	1	121412	30				g.chr14:61180513A>G	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.1958T>C	chr14.hg19:g.61180513A>G	ENSP00000216513:p.Val653Ala	0						p.V653A	NM_017420.4	NP_059116.3	0	1	1	1.986586	Q9UIU6	SIX4_HUMAN		3	2017	-			Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	1	1	hg19	c.1958T>C	CCDS9749.2	1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699771	0.30142	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.41	3.01	0.34805	5.41	3.01	0.34805	.	0.806408	0.11312	N	0.577045	D	0.82779	0.5111	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70156	-0.4949	10	0.23891	T	0.37	.	7.3826	0.26864	0.6588:0.2713:0.07:0.0	.	653	Q9UIU6	SIX4_HUMAN	A	653;326	ENSP00000216513:V653A;ENSP00000451537:V326A	ENSP00000216513:V653A	V	-	2	0	0	SIX4	60250266	60250266	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.702000	0.47102	0.422000	0.26005	0.533000	0.62120	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				24	22		155	151	1		1	1		0	0	36	0		9.999997e-01	4.573228e-01	0	4	0	7	0	24	155
SIX4	51804	broad.mit.edu	37	14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	440					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)			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)		GAGACAGGGACACTGGGGCTG	0.512																																						ENST00000216513.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1318-1320)Gtc>Atc		SIX homeobox 4							162.0	156.0	158.0					14																	61186709		2203	4300	6503	SO:0001583	missense	51804	0	0					g.chr14:61186709C>T	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.1318G>A	chr14.hg19:g.61186709C>T	ENSP00000216513:p.Val440Ile	0						p.V440I	NM_017420.4	NP_059116.3	0	1	1	1.986586	Q9UIU6	SIX4_HUMAN		2	1377	-			Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	1	1	hg19	c.1318G>A	CCDS9749.2	1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594048	0.28445	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90563	-2.69;0.92	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.748974	0.13273	N	0.400382	T	0.78966	0.4367	N	0.08118	0	0.22591	N	0.998956	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63220	-0.6686	10	0.17369	T	0.5	.	8.5689	0.33556	0.1536:0.7653:0.0:0.0811	.	432;440	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	440;113;432	ENSP00000216513:V440I;ENSP00000451537:V113I	ENSP00000216513:V440I	V	-	1	0	0	SIX4	60256462	60256462	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.017000	0.40981	2.717000	0.92951	0.655000	0.94253	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000				103	101		469	466	1		1	0		0	0	133	0		1	5.037997e-01	0	1	0	8	0	103	469
SIX4	51804	broad.mit.edu	37	14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	362					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)			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)		TTAAGGAAGACAGGTGAAGTA	0.403																																						ENST00000216513.4	0.720000	0.290000	6.000000e-01	3.700000e-01	0.480000	0.494888	0.480000	0.470000																										0				28						c.(1084-1086)Gtc>Atc		SIX homeobox 4							94.0	91.0	92.0					14																	61186943		2203	4300	6503	SO:0001583	missense	51804	1	121412	28				g.chr14:61186943C>T	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.1084G>A	chr14.hg19:g.61186943C>T	ENSP00000216513:p.Val362Ile	0						p.V362I	NM_017420.4	NP_059116.3	0	1	1	1.986586	Q9UIU6	SIX4_HUMAN		2	1143	-			Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	1	1	hg19	c.1084G>A	CCDS9749.2	0	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377563	0.82682	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.11	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.066731	0.64402	D	0.000014	D	0.93779	0.8011	L	0.29908	0.895	0.53688	D	0.999974	D;P	0.67145	0.996;0.9	D;B	0.77557	0.99;0.36	D	0.94100	0.7361	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	354;362	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	362;35;354	ENSP00000216513:V362I;ENSP00000451537:V35I	ENSP00000216513:V362I	V	-	1	0	0	SIX4	60256696	60256696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.660000	0.90430	0.655000	0.94253	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-16.913940	1	0.170000				17	17		402	396	0		1	0		0	0	86	0		9.999619e-01	2.520723e-02	0	0	0	6	0	17	402
TRMT5	57570	broad.mit.edu	37	14	61442419	61442419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458																																						ENST00000261249.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1216-1218)caG>caA		tRNA methyltransferase 5							92.0	92.0	92.0					14																	61442419		2203	4300	6503	SO:0001819	synonymous_variant	57570	0	0					g.chr14:61442419C>T	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.1218G>A	chr14.hg19:g.61442419C>T		0					RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	p.Q406Q	NM_020810.2	NP_065861.2	0	1	1	1.986586				4	1602	-				Silent	SNP	ENST00000261249.6	1	1	hg19	c.1218G>A	CCDS32092.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.417588	1	0.170000	NM_02081			66	65		279	274	1		1	1		0	0	88	0		1	9.999024e-01	0	22	0	38	0	66	279
PRKCH	5583	broad.mit.edu	37	14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|RP11-47I22.1_ENST00000556543.1_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		TCAGGGAGGCGAGCACGCCAT	0.498																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1813-1815)Gag>Aag		protein kinase C, eta							263.0	261.0	262.0					14																	62014512		2203	4300	6503	SO:0001583	missense	5583	1	121412	36				g.chr14:62014512G>A	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.1813G>A	chr14.hg19:g.62014512G>A	ENSP00000329127:p.Glu605Lys	0					PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|RP11-47I22.1_ENST00000556543.1_RNA	p.E605K	NM_006255.3	NP_006246.2	0	1	1	1.986586	P24723	KPCL_HUMAN		13	2198	+			B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	1	1	hg19	c.1813G>A	CCDS9752.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.424392	0.96111	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	5.99	5.99	0.97316	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	0.000003	T	0.61311	0.2337	L	0.33137	0.985	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.61123	-0.7126	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	605	P24723	KPCL_HUMAN	K	605;444	ENSP00000329127:E605K;ENSP00000450981:E444K	ENSP00000329127:E605K	E	+	1	0	0	PRKCH	61084265	61084265	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	9.805000	0.99149	2.840000	0.97914	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	1	0	1		2	2	2	0		0	0	452		452	448	1	2.060000	-20.000000	1	0.170000	NM_006255			290	290		1417	1393	1		1	1		0	0	452	0		1	9.999582e-01	0	7	0	63	0	290	1417
HIF1A	3091	broad.mit.edu	37	14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000337138.4	+	12	2340	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S693Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	692	ID.				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)			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)	AACGTGTTATCTGTCGCTTTG	0.333																																						ENST00000337138.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2074-2076)tCt>tAt		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	Carvedilol(DB01136)						81.0	74.0	77.0					14																	62207888		2203	4300	6503	SO:0001583	missense	3091	0	0					g.chr14:62207888C>A	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.2075C>A	chr14.hg19:g.62207888C>A	ENSP00000338018:p.Ser692Tyr	0					HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S693Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y	p.S692Y	NM_001530.3	NP_001521.1	0	1	1	1.986586	Q16665	HIF1A_HUMAN		12	2340	+			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	1	1	hg19	c.2075C>A	CCDS9753.1	1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136336	0.37728	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.56776	0.59;0.59;0.44;0.59;0.58	5.72	5.72	0.89469	5.72	5.72	0.89469	.	1.828410	0.02128	N	0.056185	T	0.57359	0.2048	L	0.48642	1.525	0.37396	D	0.912625	P;P;P	0.42357	0.777;0.731;0.731	B;B;B	0.37047	0.232;0.24;0.24	T	0.60342	-0.7282	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	693;692;692	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	443;633;692;693;692;633;716	ENSP00000338018:S692Y;ENSP00000378446:S693Y;ENSP00000323326:S692Y;ENSP00000451696:S633Y;ENSP00000437955:S716Y	ENSP00000323326:S692Y	S	+	2	0	0	HIF1A	61277641	61277641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.937000	0.56575	2.857000	0.98124	0.650000	0.86243	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001530			65	64		310	297	1		1	1		0	0	52	0		1	1	0	156	0	576	0	65	310
SNAPC1	6617	broad.mit.edu	37	14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	122	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(364-366)gCa>gTa		small nuclear RNA activating complex, polypeptide 1, 43kDa							84.0	85.0	84.0					14																	62234006		2203	4300	6503	SO:0001583	missense	6617	0	0					g.chr14:62234006C>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.365C>T	chr14.hg19:g.62234006C>T	ENSP00000216294:p.Ala122Val	0					RP11-618G20.1_ENST00000555937.1_RNA	p.A122V	NM_003082.3	NP_003073.1	0	1	1	1.986586	Q16533	SNPC1_HUMAN		3	469	+				Missense_Mutation	SNP	ENST00000216294.4	1	1	hg19	c.365C>T	CCDS9755.1	1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810662	0.50421	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.96	5.08	0.68730	5.96	5.08	0.68730	.	0.095752	0.64402	N	0.000001	T	0.45796	0.1360	N	0.20357	0.565	0.46701	D	0.999162	B	0.26120	0.142	B	0.31869	0.137	T	0.34403	-0.9830	9	0.26408	T	0.33	-3.289	15.1923	0.73053	0.0:0.9328:0.0:0.0672	.	122	Q16533	SNPC1_HUMAN	V	122	.	ENSP00000216294:A122V	A	+	2	0	0	SNAPC1	61303759	61303759	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.014000	0.57145	1.533000	0.49186	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_003082			75	73		256	252	1		1	1		0	0	54	0		1	9.991718e-01	0	5	0	34	0	75	256
KCNH5	27133	broad.mit.edu	37	14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					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)			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)		TGCCGGAGGCGCTCCTCCTCC	0.498																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(2065-2067)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83.0	88.0	86.0					14																	63175128		2203	4300	6503	SO:0001583	missense	27133	0	0					g.chr14:63175128G>A	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.2065C>T	chr14.hg19:g.63175128G>A	ENSP00000321427:p.Arg689Cys	0					KCNH5_ENST00000420622.2_3'UTR	p.R689C	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		11	2333	-			C9JP98	Missense_Mutation	SNP	ENST00000322893.7	1	1	hg19	c.2065C>T	CCDS9756.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172220	0.57584	.	.	ENSG00000140015	ENST00000322893	T	0.18502	2.21	5.72	3.88	0.44766	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.01162	-1.1432	10	0.52906	T	0.07	.	11.0615	0.47950	0.0667:0.0:0.8045:0.1289	.	689	Q8NCM2	KCNH5_HUMAN	C	689	ENSP00000321427:R689C	ENSP00000321427:R689C	R	-	1	0	0	KCNH5	62244881	62244881	1.000000	0.71417	0.791000	0.31998	0.983000	0.72400	4.606000	0.61126	0.763000	0.33175	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_139318			120	117		431	425	1		1			0	0	79	0		1	0	0	0	0	0	0	120	431
KCNH5	27133	broad.mit.edu	37	14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	624					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)			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)		CATGCATGGGCAAGGGTGGTT	0.438																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1870-1872)Gcc>Acc		potassium voltage-gated channel, subfamily H (eag-related), member 5							101.0	87.0	92.0					14																	63246595		2203	4300	6503	SO:0001583	missense	27133	0	0					g.chr14:63246595C>T	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.1870G>A	chr14.hg19:g.63246595C>T	ENSP00000321427:p.Ala624Thr	0					KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T	p.A624T	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		10	2138	-			C9JP98	Missense_Mutation	SNP	ENST00000322893.7	1	1	hg19	c.1870G>A	CCDS9756.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401805	0.83120	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.98926	-5.24;-5.04	5.72	5.72	0.89469	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.41124	1.26	0.80722	D	1	P;D	0.64830	0.823;0.994	P;D	0.69479	0.535;0.964	D	0.99864	1.1087	10	0.54805	T	0.06	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	566;624	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	624;566	ENSP00000321427:A624T;ENSP00000378419:A566T	ENSP00000321427:A624T	A	-	1	0	0	KCNH5	62316348	62316348	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_139318			48	48		196	189	1		1			0	0	39	0		1	0	0	0	0	0	0	48	196
KCNH5	27133	broad.mit.edu	37	14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V|KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	586					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)			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)		AAAGCAGAGGGCATCCACACT	0.517																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1756-1758)gCc>gTc		potassium voltage-gated channel, subfamily H (eag-related), member 5							112.0	97.0	102.0					14																	63269112		2203	4300	6503	SO:0001583	missense	27133	0	0					g.chr14:63269112G>A	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.1757C>T	chr14.hg19:g.63269112G>A	ENSP00000321427:p.Ala586Val	0					KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V|KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V	p.A586V	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		9	2025	-			C9JP98	Missense_Mutation	SNP	ENST00000322893.7	1	1	hg19	c.1757C>T	CCDS9756.1	1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720742	0.48728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96802	-3.09;-4.13;-3.09	4.93	4.93	0.64822	4.93	4.93	0.64822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.173476	0.52532	D	0.000080	D	0.95582	0.8564	L	0.56340	1.77	0.80722	D	1	B;B;B	0.29341	0.01;0.01;0.242	B;B;B	0.36766	0.015;0.009;0.232	D	0.94704	0.7886	10	0.54805	T	0.06	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	528;586;586	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	586;586;528	ENSP00000321427:A586V;ENSP00000395439:A586V;ENSP00000378419:A528V	ENSP00000321427:A586V	A	-	2	0	0	KCNH5	62338865	62338865	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.913000	0.56394	2.449000	0.82847	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_139318			76	75		338	332	1		1			0	0	77	0		1	0	0	0	0	0	0	76	338
KCNH5	27133	broad.mit.edu	37	14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					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)			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)		CGCCAAGGCGCGCAGACACCC	0.507																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1678-1680)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83.0	78.0	79.0					14																	63269190		2203	4300	6503	SO:0001583	missense	27133	0	0					g.chr14:63269190C>T	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.1679G>A	chr14.hg19:g.63269190C>T	ENSP00000321427:p.Arg560His	0					KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H	p.R560H	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		9	1947	-			C9JP98	Missense_Mutation	SNP	ENST00000322893.7	1	1	hg19	c.1679G>A	CCDS9756.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509708	0.85282	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96885	-4.16;-4.16;-4.16	5.13	4.22	0.49857	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91038	3.17	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	0.99445	1.0939	10	0.87932	D	0	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	H	560;560;502	ENSP00000321427:R560H;ENSP00000395439:R560H;ENSP00000378419:R502H	ENSP00000321427:R560H	R	-	2	0	0	KCNH5	62338943	62338943	1.000000	0.71417	0.865000	0.33974	0.885000	0.51271	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_139318			65	64		321	316	1		1			0	0	94	0		1	0	0	0	0	0	0	65	321
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					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)			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)		GGGCAAATTTCGTCCAACCTT	0.388																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(439-441)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 5							85.0	82.0	83.0					14																	63453898		2203	4299	6502	SO:0001819	synonymous_variant	27133	2	121396	37				g.chr14:63453898C>T	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.441G>A	chr14.hg19:g.63453898C>T		0					KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T	p.T147T	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		5	709	-			C9JP98	Silent	SNP	ENST00000322893.7	1	1	hg19	c.441G>A	CCDS9756.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-3.574837	1	0.170000	NM_139318			65	65		267	265	0		1			0	0	67	0		1	0	0	0	0	0	0	65	267
KCNH5	27133	broad.mit.edu	37	14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	92	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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)			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)		GAACTTCAAAGCAGTTTGATT	0.353																																						ENST00000322893.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999722	0.990000	1.000000																										0				99						c.(274-276)tgC>tgA		potassium voltage-gated channel, subfamily H (eag-related), member 5							101.0	98.0	99.0					14																	63473112		2202	4299	6501	SO:0001587	stop_gained	27133	0	0					g.chr14:63473112G>T	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.276C>A	chr14.hg19:g.63473112G>T	ENSP00000321427:p.Cys92*	0					KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*	p.C92*	NM_139318.3	NP_647479.2	0	1	1	1.986586	Q8NCM2	KCNH5_HUMAN		3	544	-			C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	0	1	hg19	c.276C>A	CCDS9756.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.643477	0.96704	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	0.143	0.14820	5.35	0.143	0.14820	.	0.046540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0009	0.36081	0.4595:0.0:0.5405:0.0	.	.	.	.	X	92;92;34;34	.	ENSP00000321427:C92X	C	-	3	2	2	KCNH5	62542865	62542865	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.085000	0.30840	-0.203000	0.10251	0.655000	0.94253	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_139318			40	40		271	265	1		1			0	0	47	0		1	0	0	0	0	0	0	40	271
PPP2R5E	5529	broad.mit.edu	37	14	64006314	64006314	+	Silent	SNP	C	C	T	rs548702302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64006314C>T	ENST00000337537.3	-	2	692	c.90G>A	c.(88-90)tcG>tcA	p.S30S	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	30					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGGAACTTTGCGACCTCTTCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18272	0.0		0.001	False		,,,				2504	0.0					ENST00000337537.3	0.570000	0.200000	4.700000e-01	2.700000e-01	0.350000	0.374376	0.350000	0.350000																										0				15						c.(88-90)tcG>tcA		protein phosphatase 2, regulatory subunit B', epsilon isoform							177.0	149.0	158.0					14																	64006314		2203	4300	6503	SO:0001819	synonymous_variant	5529	18	121412	44				g.chr14:64006314C>T	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.90G>A	chr14.hg19:g.64006314C>T		0					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	p.S30S	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	0	1	1	1.986586	Q16537	2A5E_HUMAN		2	692	-			A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	ENST00000337537.3	1	1	hg19	c.90G>A	CCDS9758.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.707675	1	0.170000	NM_006246			13	13		418	415	0		1	1		0	0	82	0		9.995267e-01	7.905768e-01	0	4	0	92	0	13	418
WDR89	112840	broad.mit.edu	37	14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	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	181										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)		GTTGGGATTGCTGGGATGGAA	0.393																																						ENST00000394942.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(541-543)aGc>aAc		WD repeat domain 89							138.0	129.0	132.0					14																	64066119		2203	4300	6503	SO:0001583	missense	112840	0	0					g.chr14:64066119C>T	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.542G>A	chr14.hg19:g.64066119C>T	ENSP00000378399:p.Ser181Asn	0					CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	0	1	1	1.986586	Q96FK6	WDR89_HUMAN		2	630	-				Missense_Mutation	SNP	ENST00000394942.2	1	1	hg19	c.542G>A	CCDS9759.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303448	0.23736	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.60920	0.15;0.15;0.15	6.02	1.5	0.22942	6.02	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.585075	0.19934	N	0.102794	T	0.23649	0.0572	N	0.02854	-0.475	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07809	-1.0753	10	0.21014	T	0.42	.	1.9776	0.03419	0.1223:0.4161:0.2101:0.2514	.	181	Q96FK6	WDR89_HUMAN	N	181	ENSP00000378399:S181N;ENSP00000267522:S181N;ENSP00000451702:S181N	ENSP00000267522:S181N	S	-	2	0	0	WDR89	63135872	63135872	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	0.056000	0.14256	0.887000	0.36136	0.650000	0.86243	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	1	0	1		2	2	2	0		0	0	101		101	97	1	2.060000	-3.239104	1	0.170000	NM_080666			81	80		402	398	1		1	1		0	0	101	0		1	9.975728e-01	0	14	0	33	0	81	402
SGPP1	81537	broad.mit.edu	37	14	64152848	64152848	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	ENST00000247225.6	-	3	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	434					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)			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)		AAAGAAAAATATGTAAGGAAC	0.343																																						ENST00000247225.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				10						c.(1300-1302)aTa>aCa		sphingosine-1-phosphate phosphatase 1							62.0	51.0	55.0					14																	64152848		2203	4300	6503	SO:0001583	missense	81537	0	0					g.chr14:64152848A>G	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.1301T>C	chr14.hg19:g.64152848A>G	ENSP00000247225:p.Ile434Thr	0						p.I434T	NM_030791.2	NP_110418.1	0	1	1	1.986586	Q9BX95	SGPP1_HUMAN		3	1395	-			B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	0	1	hg19	c.1301T>C	CCDS9760.1	1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061569	0.36373	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.382330	0.26757	N	0.022650	T	0.42426	0.1202	L	0.40543	1.245	0.27067	N	0.963403	B	0.28713	0.22	B	0.24541	0.054	T	0.45145	-0.9281	9	0.66056	D	0.02	-5.5979	16.6406	0.85098	1.0:0.0:0.0:0.0	.	434	Q9BX95	SGPP1_HUMAN	T	434	.	ENSP00000247225:I434T	I	-	2	0	0	SGPP1	63222601	63222601	1.000000	0.71417	0.770000	0.31555	0.818000	0.46254	6.928000	0.75846	2.326000	0.78906	0.533000	0.62120	ATA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_030791			26	26		112	110	0		1	1		0	0	24	0		1	9.999360e-01	0	21	0	50	0	26	112
SYNE2	23224	broad.mit.edu	37	14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000344113.4	+	11	1288	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	359					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)			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)		CTGGATGAGCTGGACAAGGAT	0.428																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(1075-1077)cTg>cCg		spectrin repeat containing, nuclear envelope 2							133.0	127.0	129.0					14																	64434512		1904	4137	6041	SO:0001583	missense	23224	0	0					g.chr14:64434512T>C	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.1076T>C	chr14.hg19:g.64434512T>C	ENSP00000341781:p.Leu359Pro	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P|SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P	p.L359P	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		11	1288	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.1076T>C	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736240	0.15574	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.62364	0.38;0.38;0.03	5.24	2.8	0.32819	5.24	2.8	0.32819	.	0.454238	0.16247	N	0.222862	T	0.56292	0.1975	M	0.61703	1.905	0.80722	D	1	B;B	0.32800	0.266;0.385	B;B	0.33295	0.077;0.161	T	0.53718	-0.8399	10	0.87932	D	0	.	6.9347	0.24461	0.0:0.0775:0.1499:0.7727	.	359;359	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	359	ENSP00000350719:L359P;ENSP00000341781:L359P;ENSP00000452570:L359P	ENSP00000261678:L359P	L	+	2	0	0	SYNE2	63504265	63504265	0.033000	0.19621	0.323000	0.25347	0.034000	0.12701	0.576000	0.23744	0.284000	0.22305	0.482000	0.46254	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_182914			87	83		376	359	1		1	1		0	0	101	0		1	9.855833e-01	0	10	0	21	0	87	376
SYNE2	23224	broad.mit.edu	37	14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000344113.4	+	38	5776	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1855					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)			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)		AGCAACATTAAAGTGAACCTT	0.318																																						ENST00000344113.4	1.000000	0.270000	8.500000e-01	4.200000e-01	0.610000	0.632511	0.610000	1.000000																										0				224						c.(5563-5565)aAa>aGa		spectrin repeat containing, nuclear envelope 2							46.0	42.0	43.0					14																	64489508		1822	4080	5902	SO:0001583	missense	23224	0	0					g.chr14:64489508A>G	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.5564A>G	chr14.hg19:g.64489508A>G	ENSP00000341781:p.Lys1855Arg	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R	p.K1855R	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		38	5776	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	0	1	hg19	c.5564A>G	CCDS41963.1	0	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432125	0.25813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61627	0.48;0.48;0.09	5.75	4.6	0.57074	5.75	4.6	0.57074	.	0.471996	0.19589	N	0.110667	T	0.44685	0.1305	L	0.27053	0.805	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.32025	-0.9922	10	0.54805	T	0.06	.	10.5232	0.44931	0.9264:0.0:0.0736:0.0	.	1855;1855	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	R	1855	ENSP00000350719:K1855R;ENSP00000341781:K1855R;ENSP00000452570:K1855R	ENSP00000261678:K1855R	K	+	2	0	0	SYNE2	63559261	63559261	1.000000	0.71417	0.702000	0.30337	0.085000	0.17905	3.292000	0.51772	0.993000	0.38866	0.460000	0.39030	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-4.436380	1	0.170000	NM_182914			7	7		132	132	0		1	0		0	0	20	0		9.814829e-01	7.615499e-01	0	0	0	53	0	7	132
SYNE2	23224	broad.mit.edu	37	14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000344113.4	+	44	7048	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2279					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)			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)		TCTGATAAGCCTGTGGATCAA	0.378																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(6835-6837)cCt>cAt		spectrin repeat containing, nuclear envelope 2							69.0	67.0	68.0					14																	64496734		1840	4082	5922	SO:0001583	missense	23224	0	0					g.chr14:64496734C>A	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.6836C>A	chr14.hg19:g.64496734C>A	ENSP00000341781:p.Pro2279His	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H|SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H	p.P2279H	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		44	7048	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.6836C>A	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609305	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36878	1.23;1.23;1.23	5.03	3.17	0.36434	5.03	3.17	0.36434	.	0.856008	0.10108	N	0.715018	T	0.33818	0.0876	N	0.24115	0.695	0.19945	N	0.999941	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.05550	-1.0878	10	0.07813	T	0.8	.	9.4087	0.38477	0.0:0.8198:0.0:0.1802	.	2279;2279	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2279	ENSP00000350719:P2279H;ENSP00000341781:P2279H;ENSP00000452570:P2279H	ENSP00000261678:P2279H	P	+	2	0	0	SYNE2	63566487	63566487	0.014000	0.17966	0.009000	0.14445	0.889000	0.51656	2.798000	0.47884	1.249000	0.43950	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.464792	1	0.170000	NM_182914			37	36		155	151	1		1	1		0	0	44	0		1	9.971311e-01	0	15	0	26	0	37	155
SYNE2	23224	broad.mit.edu	37	14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000344113.4	+	48	7986	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2592					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)			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)		GACTGACATGGATAAGAAATT	0.348																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(7774-7776)Gat>Aat		spectrin repeat containing, nuclear envelope 2							91.0	84.0	86.0					14																	64518405		1857	4103	5960	SO:0001583	missense	23224	0	0					g.chr14:64518405G>A	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.7774G>A	chr14.hg19:g.64518405G>A	ENSP00000341781:p.Asp2592Asn	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N	p.D2592N	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		48	7986	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.7774G>A	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365146	0.41902	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.73152	1.15;1.15;-0.72	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	T	0.78438	0.4283	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77230	-0.2664	10	0.45353	T	0.12	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	2592;2592	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2592;2592;2625;2625	ENSP00000350719:D2592N;ENSP00000341781:D2592N;ENSP00000452570:D2625N	ENSP00000261678:D2625N	D	+	1	0	0	SYNE2	63588158	63588158	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.394000	0.73223	2.788000	0.95919	0.650000	0.86243	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_182914			68	68		261	260	1		1	1		0	0	59	0		1	9.977311e-01	0	4	0	34	0	68	261
SYNE2	23224	broad.mit.edu	37	14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000344113.4	+	48	8048	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2612					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)			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)		AAGTGGAACAGCAGATTCAAA	0.398																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(7834-7836)caG>caT		spectrin repeat containing, nuclear envelope 2							103.0	98.0	100.0					14																	64518467		1907	4121	6028	SO:0001583	missense	23224	0	0					g.chr14:64518467G>T	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.7836G>T	chr14.hg19:g.64518467G>T	ENSP00000341781:p.Gln2612His	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H	p.Q2612H	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		48	8048	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.7836G>T	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111435	0.01813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	1.27;1.27;0.34	5.91	-11.5	0.00074	5.91	-11.5	0.00074	.	0.216802	0.32386	N	0.006174	T	0.32763	0.0840	L	0.34521	1.04	0.58432	D	0.999992	B;B	0.24368	0.062;0.102	B;B	0.25759	0.028;0.063	T	0.37079	-0.9721	10	0.46703	T	0.11	.	14.6757	0.68978	0.2302:0.2164:0.5534:0.0	.	2612;2612	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2612;2612;2645;2645	ENSP00000350719:Q2612H;ENSP00000341781:Q2612H;ENSP00000452570:Q2645H	ENSP00000261678:Q2645H	Q	+	3	2	2	SYNE2	63588220	63588220	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.055000	0.00626	-2.273000	0.00681	-1.053000	0.02334	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_182914			70	69		370	362	1		1	1		0	0	73	0		1	9.986111e-01	0	25	0	29	0	70	370
SYNE2	23224	broad.mit.edu	37	14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000344113.4	+	48	8700	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2830					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)			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)		ACAGCAATTAGAATTTAAGTT	0.343																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(8488-8490)Gaa>Taa		spectrin repeat containing, nuclear envelope 2							43.0	41.0	42.0					14																	64519119		1810	4083	5893	SO:0001587	stop_gained	23224	0	0					g.chr14:64519119G>T	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.8488G>T	chr14.hg19:g.64519119G>T	ENSP00000341781:p.Glu2830*	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*	p.E2830*	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		48	8700	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	0	1	hg19	c.8488G>T	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	50	16.124919	0.99855	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.543	0.50677	0.0821:0.0:0.9179:0.0	.	.	.	.	X	2830;2830;2863;2863	.	ENSP00000261678:E2863X	E	+	1	0	0	SYNE2	63588872	63588872	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	3.719000	0.54926	2.475000	0.83589	0.313000	0.20887	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_182914			57	57		220	213	1		1	1		0	0	68	0		1	9.845920e-01	0	2	0	26	0	57	220
SYNE2	23224	broad.mit.edu	37	14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000344113.4	+	48	9940	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3243					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)			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)		CTTAACACAAGCATTGATTTG	0.453																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				224						c.(9727-9729)aGc>aTc		spectrin repeat containing, nuclear envelope 2							69.0	64.0	66.0					14																	64520359		1917	4133	6050	SO:0001583	missense	23224	0	0					g.chr14:64520359G>T	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.9728G>T	chr14.hg19:g.64520359G>T	ENSP00000341781:p.Ser3243Ile	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I	p.S3243I	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		48	9940	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.9728G>T	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004126	0.35320	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	5.67	3.84	0.44239	5.67	3.84	0.44239	.	0.179555	0.40818	N	0.001004	T	0.36552	0.0971	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61201	0.77;0.885	T	0.12656	-1.0539	10	0.34782	T	0.22	.	5.7365	0.18069	0.306:0.0:0.694:0.0	.	3243;3243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3243;3243;3276;3276	ENSP00000350719:S3243I;ENSP00000341781:S3243I;ENSP00000452570:S3276I	ENSP00000261678:S3276I	S	+	2	0	0	SYNE2	63590112	63590112	1.000000	0.71417	0.165000	0.22776	0.703000	0.40648	1.600000	0.36762	1.403000	0.46800	0.563000	0.77884	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_182914			53	51		291	286	1		1	1		0	0	59	0		1	9.916008e-01	0	16	0	27	0	53	291
SYNE2	23224	broad.mit.edu	37	14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000344113.4	+	51	10519	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					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)			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)		GAAAATGATGGCATATGTTTG	0.443																																						ENST00000344113.4	1.000000	0.450000	8.800000e-01	5.700000e-01	0.710000	0.727835	0.710000	1.000000																										0				224						c.(10306-10308)gGc>gTc		spectrin repeat containing, nuclear envelope 2							168.0	160.0	162.0					14																	64532244		1948	4151	6099	SO:0001583	missense	23224	0	0					g.chr14:64532244G>T	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.10307G>T	chr14.hg19:g.64532244G>T	ENSP00000341781:p.Gly3436Val	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V	p.G3436V	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		51	10519	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.10307G>T	CCDS41963.1	0	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.47528	1.41;0.84;1.41;4.19	5.2	0.842	0.18927	5.2	0.842	0.18927	.	0.684405	0.14471	N	0.317589	T	0.24851	0.0603	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.36183	0.407;0.542	B;B	0.34385	0.088;0.181	T	0.10730	-1.0617	10	0.41790	T	0.15	.	1.6822	0.02834	0.2422:0.184:0.4448:0.1291	.	3436;3436	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3436;3436;3469;3469;70	ENSP00000350719:G3436V;ENSP00000341781:G3436V;ENSP00000452570:G3469V;ENSP00000450831:G70V	ENSP00000261678:G3469V	G	+	2	0	0	SYNE2	63601997	63601997	0.007000	0.16637	0.000000	0.03702	0.264000	0.26372	1.415000	0.34748	0.171000	0.19730	0.650000	0.86243	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-6.154338	1	0.170000	NM_182914			20	20		309	305	0		1	1		0	0	49	0		9.999952e-01	8.694665e-01	0	5	0	53	0	20	309
SYNE2	23224	broad.mit.edu	37	14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T	rs372338837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000344113.4	+	51	10543	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					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.S3444L(1)|p.S3444>?(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)		AAGATTGTGTCGGCTCTGTGG	0.433																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(1)|Complex(1)	p.S3444L(1)|p.S3444>?(1)	kidney(2)	224						c.(10330-10332)tCg>tTg		spectrin repeat containing, nuclear envelope 2		C	LEU/SER,LEU/SER	1,3939		0,1,1969	168.0	165.0	166.0		10331,10331	1.7	0.0	14		166	0,8344		0,0,4172	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	145,145	0,1,6141	TT,TC,CC		0.0,0.0254,0.0081	benign,benign	3444/6886,3444/6908	64532268	1,12283	1970	4172	6142	SO:0001583	missense	23224	5	120908	41				g.chr14:64532268C>T	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.10331C>T	chr14.hg19:g.64532268C>T	ENSP00000341781:p.Ser3444Leu	0					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L	p.S3444L	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		51	10543	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.10331C>T	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043958	0.19748	2.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.51325	1.3;0.71;1.3;4.09	5.61	1.7	0.24286	5.61	1.7	0.24286	.	0.592105	0.15399	N	0.264435	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.18741	0.017;0.03	B;B	0.12156	0.003;0.007	T	0.15263	-1.0443	10	0.34782	T	0.22	.	6.4274	0.21778	0.0:0.5589:0.2442:0.1969	.	3444;3444	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3444;3444;3477;3477;78	ENSP00000350719:S3444L;ENSP00000341781:S3444L;ENSP00000452570:S3477L;ENSP00000450831:S78L	ENSP00000261678:S3477L	S	+	2	0	0	SYNE2	63602021	63602021	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.058000	0.14301	0.107000	0.17824	-0.145000	0.13849	TCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-4.169536	1	0.170000	NM_182914			68	66		225	223	1		1	1		0	0	63	0		1	9.999996e-01	0	18	0	58	0	68	225
SYNE2	23224	broad.mit.edu	37	14	64542662	64542662	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000344113.4	+	54	11078		c.e54-1		SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000394768.2_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						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)			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)		AATGCTTTTAGGAGCTTCAAA	0.378																																						ENST00000344113.4	0.850000	0.290000	7.000000e-01	4.000000e-01	0.530000	0.555153	0.530000	0.510000																										0				224						c.e54-1		spectrin repeat containing, nuclear envelope 2							56.0	58.0	57.0					14																	64542662		2203	4299	6502	SO:0001630	splice_region_variant	23224	0	0					g.chr14:64542662G>T	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.10867-1G>T	chr14.hg19:g.64542662G>T		0					SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000394768.2_5'UTR		NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		54	11078	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	1	1	hg19		CCDS41963.1	0	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924215	0.52653	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SYNE2	63612415	63612415	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.718000	0.74713	2.769000	0.95229	0.655000	0.94253	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.794655	1	0.170000	NM_182914	Intron		12	12		255	251	0		1	0		0	0	47	0		9.990958e-01	0	0	0	0	1	0	12	255
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	C	T	rs375987275		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000344113.4	+	79	14888	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	SYNE2_ENST00000357395.3_Silent_p.H1277H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.H4809H|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000394768.2_Silent_p.H1277H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4892					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.H4892H(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)		GTGGAAAACACGCCCGGCTTT	0.403																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.H4892H(1)	large_intestine(1)	224						c.(14674-14676)caC>caT		spectrin repeat containing, nuclear envelope 2							75.0	73.0	73.0					14																	64604534		2203	4300	6503	SO:0001819	synonymous_variant	23224	1	121412	43				g.chr14:64604534C>T	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.14676C>T	chr14.hg19:g.64604534C>T		0					SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.H4809H|SYNE2_ENST00000394768.2_Silent_p.H1277H	p.H4892H	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		79	14888	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	1	1	hg19	c.14676C>T	CCDS41963.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_182914			80	78		312	307	1		1	1		0	0	71	0		1	1	0	53	0	66	0	80	312
SYNE2	23224	broad.mit.edu	37	14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000344113.4	+	86	16028	c.15816G>A	c.(15814-15816)atG>atA	p.M5272I	SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5272					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)			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)		AAACCTCCATGCAGTCAGTTT	0.408																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(15814-15816)atG>atA		spectrin repeat containing, nuclear envelope 2							114.0	103.0	107.0					14																	64625366		2203	4300	6503	SO:0001583	missense	23224	0	0					g.chr14:64625366G>A	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.15816G>A	chr14.hg19:g.64625366G>A	ENSP00000341781:p.Met5272Ile	0					SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I	p.M5272I	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		86	16028	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.15816G>A	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424303	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.77	2.98	0.34508	5.77	2.98	0.34508	.	0.191659	0.37304	N	0.002151	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	B;B;B;B;B	0.29988	0.171;0.004;0.002;0.066;0.264	B;B;B;B;B	0.26094	0.038;0.011;0.004;0.025;0.066	T	0.04216	-1.0968	10	0.11182	T	0.66	.	8.582	0.33634	0.3021:0.0:0.6979:0.0	.	1657;5195;5189;5272;5272	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	5272;1657;5272;5189;5195;1906;1657	ENSP00000350719:M5272I;ENSP00000349969:M1657I;ENSP00000341781:M5272I;ENSP00000452570:M5189I;ENSP00000450831:M1906I;ENSP00000378249:M1657I	ENSP00000261678:M5195I	M	+	3	0	0	SYNE2	63695119	63695119	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	1.721000	0.38032	0.459000	0.27016	0.650000	0.86243	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_182914			49	48		236	233	1		1	1		0	0	37	0		1	9.999994e-01	0	17	0	89	0	49	236
SYNE2	23224	broad.mit.edu	37	14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T	rs376008959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000344113.4	+	94	17403	c.17191C>T	c.(17191-17193)Cgc>Tgc	p.R5731C	SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5731					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)			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)		GGGCCAGGAGCGCTTCAGCCT	0.512																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				224						c.(17191-17193)Cgc>Tgc		spectrin repeat containing, nuclear envelope 2		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	63.0	72.0		17191,17191	-1.9	0.0	14		72	0,8600		0,0,4300	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	5731/6886,5731/6908	64637136	1,13005	2203	4300	6503	SO:0001583	missense	23224	8	121410	37				g.chr14:64637136C>T	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.17191C>T	chr14.hg19:g.64637136C>T	ENSP00000341781:p.Arg5731Cys	0					SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C	p.R5731C	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		94	17403	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.17191C>T	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118488	0.20877	2.27E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.49139	0.79;4.07;0.8;4.12;4.07	5.68	-1.91	0.07641	5.68	-1.91	0.07641	.	0.348277	0.24523	N	0.037800	T	0.13457	0.0326	N	0.00841	-1.15	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.16247	-1.0409	10	0.51188	T	0.08	.	4.0351	0.09725	0.103:0.0822:0.2099:0.605	.	2116;119;5731;5731	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5731;2116;5731;2365;2116	ENSP00000350719:R5731C;ENSP00000349969:R2116C;ENSP00000341781:R5731C;ENSP00000450831:R2365C;ENSP00000378249:R2116C	ENSP00000341781:R5731C	R	+	1	0	0	SYNE2	63706889	63706889	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	-0.932000	0.03963	-0.583000	0.05921	0.555000	0.69702	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_182914			26	24		123	120	1		1	1		0	0	21	0		9.999999e-01	1	0	45	0	128	0	26	123
SYNE2	23224	broad.mit.edu	37	14	64679654	64679654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000344113.4	+	105	19199	c.18987C>T	c.(18985-18987)ctC>ctT	p.L6329L	SYNE2_ENST00000357395.3_Silent_p.L2714L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554584.1_Silent_p.L6288L|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000555022.1_Silent_p.L207L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6329					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)			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)		TGGAGGAACTCCACCGCTACT	0.572																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(18985-18987)ctC>ctT		spectrin repeat containing, nuclear envelope 2							93.0	91.0	92.0					14																	64679654		2203	4300	6503	SO:0001819	synonymous_variant	23224	0	0					g.chr14:64679654C>T	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.18987C>T	chr14.hg19:g.64679654C>T		0					SYNE2_ENST00000357395.3_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555002.1_Silent_p.L2963L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.L207L|SYNE2_ENST00000554584.1_Silent_p.L6288L|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554805.1_Silent_p.L112L	p.L6329L	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		105	19199	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	1	1	hg19	c.18987C>T	CCDS41963.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_182914			106	104		373	366	1		1	1		0	0	85	0		1	1	0	48	0	191	0	106	373
SYNE2	23224	broad.mit.edu	37	14	64691244	64691244	+	Silent	SNP	C	C	T	rs546213944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64691244C>T	ENST00000344113.4	+	113	20591	c.20379C>T	c.(20377-20379)tcC>tcT	p.S6793S	SYNE2_ENST00000357395.3_Silent_p.S3178S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000554584.1_Silent_p.S6709S|SYNE2_ENST00000555002.1_Silent_p.S3450S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000555022.1_Silent_p.S671S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6793					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)			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)		CTGCAACATCCGTGCCAGCTC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0					ENST00000344113.4	0.510000	0.180000	4.200000e-01	2.400000e-01	0.320000	0.335942	0.320000	0.310000																										0				224						c.(20377-20379)tcC>tcT		spectrin repeat containing, nuclear envelope 2							75.0	77.0	76.0					14																	64691244		2203	4300	6503	SO:0001819	synonymous_variant	23224	7	121412	43				g.chr14:64691244C>T	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.20379C>T	chr14.hg19:g.64691244C>T		0					SYNE2_ENST00000357395.3_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000555002.1_Silent_p.S3450S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.S671S|SYNE2_ENST00000554584.1_Silent_p.S6709S|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000554805.1_Silent_p.S576S	p.S6793S	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		113	20591	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	1	1	hg19	c.20379C>T	CCDS41963.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-2.846095	1	0.170000	NM_182914			14	14		502	486	0		1	1		0	0	110	0		9.996999e-01	9.918925e-01	0	16	0	270	0	14	502
SYNE2	23224	broad.mit.edu	37	14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000344113.4	+	115	20713	c.20501G>A	c.(20500-20502)cGg>cAg	p.R6834Q	SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6834	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				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)			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)		AGGGTGGTCCGGGCAGCCCTA	0.647																																						ENST00000344113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				224						c.(20500-20502)cGg>cAg		spectrin repeat containing, nuclear envelope 2							44.0	36.0	39.0					14																	64692087		2203	4300	6503	SO:0001583	missense	23224	3	121410	28				g.chr14:64692087G>A	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.20501G>A	chr14.hg19:g.64692087G>A	ENSP00000341781:p.Arg6834Gln	0					SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q	p.R6834Q	NM_015180.4	NP_055995.4	0	1	1	1.986586	Q8WXH0	SYNE2_HUMAN		115	20713	+			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	1	1	hg19	c.20501G>A	CCDS41963.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029618	0.93518	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.99	5.99	0.97316	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.124076	0.32175	N	0.006463	T	0.61788	0.2375	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.72338	0.953;0.974;0.977;0.945;0.976;0.976;0.966	T	0.67292	-0.5707	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	491;3219;378;505;1236;6834;6856	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	Q	6856;3219;6834;3490;3219;712;617;505;378	ENSP00000350719:R6856Q;ENSP00000349969:R3219Q;ENSP00000341781:R6834Q;ENSP00000450831:R3490Q;ENSP00000378249:R3219Q;ENSP00000451009:R712Q;ENSP00000450605:R617Q;ENSP00000391937:R505Q;ENSP00000396794:R378Q	ENSP00000341781:R6834Q	R	+	2	0	0	SYNE2	63761840	63761840	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.365521	1	0.170000	NM_182914			51	50		184	182	1		1	1		0	0	44	0		1	1	0	48	0	240	0	51	184
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000341099.4	-	5	1097	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587																																						ENST00000341099.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R227L(2)	lung(2)	23						c.(679-681)cGc>cAc		estrogen receptor 2 (ER beta)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						29.0	30.0	30.0					14																	64727439		2201	4294	6495	SO:0001583	missense	2100	0	0					g.chr14:64727439C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.680G>A	chr14.hg19:g.64727439C>T	ENSP00000343925:p.Arg227His	0					ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H	p.R227H	NM_001437.2	NP_001428.1	0	1	1	1.986586	Q92731	ESR2_HUMAN		5	1097	-			A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	1	1	hg19	c.680G>A	CCDS9762.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344503	0.61073	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.94;-2.89;-2.88;-2.88;-2.88;-2.96;-2.94;-2.96;-2.94;-2.79;-2.53	5.53	3.72	0.42706	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96513	0.8862	M	0.92923	3.36	0.58432	D	0.999997	P;D;D;D;B	0.89917	0.835;1.0;0.998;1.0;0.066	B;D;D;D;B	0.77557	0.401;0.985;0.921;0.99;0.017	D	0.96129	0.9091	10	0.54805	T	0.06	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	H	227	ENSP00000452485:R227H;ENSP00000441792:R227H;ENSP00000450699:R227H;ENSP00000335551:R227H;ENSP00000351412:R227H;ENSP00000450488:R227H;ENSP00000452426:R227H;ENSP00000350427:R227H;ENSP00000451582:R227H;ENSP00000343925:R227H;ENSP00000267525:R227H	ENSP00000267525:R227H	R	-	2	0	0	ESR2	63797192	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				59	59		232	229	1		1	0		0	0	68	0		1	4.248798e-02	0	0	0	2	0	59	232
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413																																						ENST00000554015.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(556-558)cCt>cTt		zinc finger and BTB domain containing 1							69.0	73.0	71.0					14																	64988779		2203	4300	6503	SO:0001583	missense	22890	0	0					g.chr14:64988779C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.557C>T	chr14.hg19:g.64988779C>T	ENSP00000451000:p.Pro186Leu	0					ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA	p.P186L			0	1	1	1.986586	Q9Y2K1	ZBTB1_HUMAN		4	988	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	1	1	hg19	c.557C>T	CCDS45126.1	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	0	ZBTB1	64058532	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.757118	1	0.170000				92	92		329	322	1		1	1		0	0	72	0		1	9.999998e-01	0	18	0	63	0	92	329
HSPA2	3306	broad.mit.edu	37	14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000394709.1	+	2	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	71					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000394709.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(211-213)Gcc>Acc		heat shock 70kDa protein 2							99.0	79.0	86.0					14																	65007778		2203	4300	6503	SO:0001583	missense	3306	1	121412	38				g.chr14:65007778G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.211G>A	chr14.hg19:g.65007778G>A	ENSP00000378199:p.Ala71Thr	0					HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|RP11-973N13.4_ENST00000554918.1_RNA	p.A71T			0	1	1	1.986586	P54652	HSP72_HUMAN		2	287	+			Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	1	1	hg19	c.211G>A	CCDS9766.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995842	0.74703	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01015	5.44;5.44	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.03739	0.0106	M	0.75085	2.285	0.58432	D	0.999999	P	0.43607	0.812	P	0.49192	0.602	T	0.33701	-0.9858	10	0.87932	D	0	0.4442	19.1451	0.93461	0.0:0.0:1.0:0.0	.	71	P54652	HSP72_HUMAN	T	71	ENSP00000378199:A71T;ENSP00000247207:A71T	ENSP00000247207:A71T	A	+	1	0	0	HSPA2	64077531	64077531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000				50	49		218	214	1		1	1		0	0	42	0		1	9.883020e-01	0	7	0	26	0	50	218
HSPA2	3306	broad.mit.edu	37	14	65008035	65008035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000394709.1	+	2	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.R156R|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	156					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000394709.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(466-468)cgC>cgT		heat shock 70kDa protein 2							44.0	45.0	44.0					14																	65008035		2203	4300	6503	SO:0001819	synonymous_variant	3306	0	0					g.chr14:65008035C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.468C>T	chr14.hg19:g.65008035C>T		0					HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.R156R|RP11-973N13.4_ENST00000554918.1_RNA	p.R156R			0	1	1	1.986586	P54652	HSP72_HUMAN		2	544	+			Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	1	1	hg19	c.468C>T	CCDS9766.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				63	63		295	293	1		1	1		0	0	56	0		1	9.927686e-01	0	6	0	32	0	63	295
PLEKHG3	26030	broad.mit.edu	37	14	65208098	65208098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65208098G>T	ENST00000394691.1	+	16	2010	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q565H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	621							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTGGCACAGGAGGACAGCA	0.667																																						ENST00000394691.1	0.550000	0.130000	4.200000e-01	2.000000e-01	0.290000	0.318643	0.290000	0.290000																										0				29						c.(1861-1863)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							41.0	45.0	44.0					14																	65208098		2203	4300	6503	SO:0001583	missense	26030	0	0					g.chr14:65208098G>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1863G>T	chr14.hg19:g.65208098G>T	ENSP00000378183:p.Gln621His	0					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q565H	p.Q621H			0	1	1	1.986586	A1L390	PKHG3_HUMAN		16	2010	+			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	0	1	hg19	c.1863G>T		0	.	.	.	.	.	.	.	.	.	.	G	7.951	0.744777	0.15710	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.67	2.84	0.33178	5.67	2.84	0.33178	.	0.512935	0.17080	N	0.187808	T	0.73426	0.3585	N	0.14661	0.345	0.21933	N	0.999463	P;P;B;B	0.40515	0.719;0.502;0.31;0.436	B;B;B;B	0.39152	0.243;0.243;0.153;0.292	T	0.64076	-0.6492	10	0.44086	T	0.13	.	4.7219	0.12922	0.302:0.0:0.5582:0.1398	.	154;126;621;565	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	H	565;621;154;126	ENSP00000247226:Q565H;ENSP00000378183:Q621H;ENSP00000450945:Q154H;ENSP00000450973:Q126H	ENSP00000247226:Q565H	Q	+	3	2	2	PLEKHG3	64277851	64277851	0.036000	0.19791	0.530000	0.27963	0.150000	0.21749	0.287000	0.18920	0.338000	0.23692	-0.140000	0.14226	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	0	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-7.984004	1	0.170000	NM_015549			7	7		280	276	0		1	0		0	0	53	0		9.799708e-01	2.142333e-01	0	1	0	30	0	7	280
PLEKHG3	26030	broad.mit.edu	37	14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000394691.1	+	17	3374	c.3227T>C	c.(3226-3228)gTc>gCc	p.V1076A	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V1020A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1076							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ggcccACCCGTCAACAGGAGC	0.716																																						ENST00000394691.1	0.670000	0.200000	5.300000e-01	2.900000e-01	0.390000	0.416874	0.390000	0.390000																										0				29						c.(3226-3228)gTc>gCc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							11.0	15.0	14.0					14																	65209988		2148	4220	6368	SO:0001583	missense	26030	0	0					g.chr14:65209988T>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3227T>C	chr14.hg19:g.65209988T>C	ENSP00000378183:p.Val1076Ala	0					PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V1020A	p.V1076A			0	1	1	1.986586	A1L390	PKHG3_HUMAN		17	3374	+			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	1	1	hg19	c.3227T>C		0	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886197	0.51908	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.68765	0.11;-0.35;1.07;1.07	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000116	T	0.78426	0.4281	M	0.61703	1.905	0.29738	N	0.83737	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.79784	0.99;0.99;0.984;0.993	T	0.75314	-0.3361	10	0.38643	T	0.18	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	609;581;1076;1020	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	A	1020;1076;609;581	ENSP00000247226:V1020A;ENSP00000378183:V1076A;ENSP00000450945:V609A;ENSP00000450973:V581A	ENSP00000247226:V1020A	V	+	2	0	0	PLEKHG3	64279741	64279741	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	5.053000	0.64269	1.987000	0.57996	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	0	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-15.279070	1	0.170000	NM_015549			10	10		292	281	0		1	0		0	0	38	0		9.963926e-01	4.149960e-03	0	0	0	3	0	10	292
SPTB	6710	broad.mit.edu	37	14	65241151	65241151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	ENST00000389721.5	-	23	4969	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1646Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1646					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGGGCCCGGCTGGCCAG	0.662																																						ENST00000389721.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998381	0.990000	1.000000																										0				106						c.(4936-4938)cGg>cAg		spectrin, beta, erythrocytic							10.0	12.0	12.0					14																	65241151		2173	4273	6446	SO:0001583	missense	6710	2	119018	23				g.chr14:65241151C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4937G>A	chr14.hg19:g.65241151C>T	ENSP00000374371:p.Arg1646Gln	0					SPTB_ENST00000389722.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q	p.R1646Q	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		23	4969	-		all_lung(585;4.15e-09)	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	0	1	hg19	c.4937G>A	CCDS32100.1	1	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543007	0.13250	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.063876	0.64402	D	0.000005	T	0.21468	0.0517	N	0.11427	0.14	0.41463	D	0.988053	P;B;B	0.37636	0.603;0.356;0.306	B;B;B	0.20955	0.032;0.02;0.009	T	0.15636	-1.0430	10	0.16896	T	0.51	.	11.432	0.50047	0.0:0.916:0.0:0.084	.	430;1646;1650	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1650;1646;430;311;1646;1646;1646;1646	ENSP00000374372:R1646Q;ENSP00000451324:R311Q;ENSP00000451752:R1646Q;ENSP00000374371:R1646Q;ENSP00000443882:R1646Q;ENSP00000374370:R1646Q	ENSP00000334218:R430Q	R	-	2	0	0	SPTB	64310904	64310904	0.271000	0.24162	0.980000	0.43619	0.417000	0.31264	1.666000	0.37460	2.516000	0.84829	0.542000	0.68232	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-18.460520	1	0.170000				8	7		20	20	0		1	1		0	0	8	0		9.918433e-01	6.453985e-01	0	2	0	5	0	8	20
SPTB	6710	broad.mit.edu	37	14	65249188	65249188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000389721.5	-	19	4118	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000389722.3_Silent_p.D1362D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1362					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597																																						ENST00000389721.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(4084-4086)gaC>gaT		spectrin, beta, erythrocytic							105.0	109.0	108.0					14																	65249188		2203	4300	6503	SO:0001819	synonymous_variant	6710	1	121412	41				g.chr14:65249188G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4086C>T	chr14.hg19:g.65249188G>A		0					SPTB_ENST00000389722.3_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D	p.D1362D	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		19	4118	-		all_lung(585;4.15e-09)	Q15510|Q15519	Silent	SNP	ENST00000389721.5	1	1	hg19	c.4086C>T	CCDS32100.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000				158	152		756	742	0		1	1		0	0	150	0		1	4.158915e-01	0	3	0	5	0	158	756
SPTB	6710	broad.mit.edu	37	14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000389721.5	-	15	3400	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1123					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597																																						ENST00000389721.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(3367-3369)tCt>tTt		spectrin, beta, erythrocytic							87.0	75.0	79.0					14																	65253315		2203	4300	6503	SO:0001583	missense	6710	0	0					g.chr14:65253315G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3368C>T	chr14.hg19:g.65253315G>A	ENSP00000374371:p.Ser1123Phe	0					SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F	p.S1123F	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		15	3400	-		all_lung(585;4.15e-09)	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	1	1	hg19	c.3368C>T	CCDS32100.1	1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221703	0.09863	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.196582	0.44483	D	0.000454	T	0.30070	0.0753	N	0.16368	0.405	0.37834	D	0.928837	B;B	0.33171	0.4;0.081	B;B	0.38194	0.267;0.028	T	0.19192	-1.0313	10	0.13108	T	0.6	.	7.8989	0.29723	0.1794:0.0:0.8206:0.0	.	1123;1127	P11277;Q59FP5	SPTB1_HUMAN;.	F	1127;1123;1123;1123;1123;1123	ENSP00000374372:S1123F;ENSP00000451752:S1123F;ENSP00000374371:S1123F;ENSP00000443882:S1123F;ENSP00000374370:S1123F	ENSP00000374370:S1123F	S	-	2	0	0	SPTB	64323068	64323068	0.002000	0.14202	0.911000	0.35937	0.930000	0.56654	0.780000	0.26760	2.430000	0.82344	0.549000	0.68633	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-20.000000	1	0.170000				61	60		235	230	1		1	0		0	0	51	0		1	1.942672e-01	0	1	0	3	0	61	235
SPTB	6710	broad.mit.edu	37	14	65253542	65253542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000389721.5	-	15	3173	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000389722.3_Silent_p.Q1047Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGGATTGCTGCAGGCCCT	0.612																																						ENST00000389721.5	0.560000	0.200000	4.600000e-01	2.700000e-01	0.350000	0.369882	0.350000	0.350000																										0				106						c.(3139-3141)caG>caA		spectrin, beta, erythrocytic							53.0	58.0	56.0					14																	65253542		2203	4300	6503	SO:0001819	synonymous_variant	6710	0	0					g.chr14:65253542C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3141G>A	chr14.hg19:g.65253542C>T		0					SPTB_ENST00000389722.3_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q	p.Q1047Q	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		15	3173	-		all_lung(585;4.15e-09)	Q15510|Q15519	Silent	SNP	ENST00000389721.5	1	1	hg19	c.3141G>A	CCDS32100.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-12.946540	1	0.170000				14	14		454	444	0		1	0		0	0	63	0		9.997223e-01	3.161091e-03	0	0	0	3	0	14	454
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	C	T	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000389721.5	-	13	2147	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000389722.3_Silent_p.A705A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	705					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592													c|||	4	0.000798722	0.003	0.0	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.0					ENST00000389721.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(2113-2115)gcG>gcA		spectrin, beta, erythrocytic		T	,	6,4400	11.4+/-27.6	0,6,2197	64.0	55.0	58.0		2115,2115	-9.4	0.0	14	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	705/2138,705/2329	65260266	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6710	27	121412	46				g.chr14:65260266C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2115G>A	chr14.hg19:g.65260266C>T		0					SPTB_ENST00000389722.3_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A	p.A705A	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		13	2147	-		all_lung(585;4.15e-09)	Q15510|Q15519	Silent	SNP	ENST00000389721.5	1	1	hg19	c.2115G>A	CCDS32100.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.451853	1	0.170000				49	49		191	188	1		1	1		0	0	54	0		1	2.770353e-01	0	3	0	2	0	49	191
SPTB	6710	broad.mit.edu	37	14	65263370	65263370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65263370G>A	ENST00000389721.5	-	10	1278	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000389722.3_Missense_Mutation_p.R416W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	416					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCCTGCCGAATGAGCTCA	0.582																																						ENST00000389721.5	0.540000	0.140000	4.300000e-01	2.100000e-01	0.300000	0.325303	0.300000	0.290000																										0				106						c.(1246-1248)Cgg>Tgg		spectrin, beta, erythrocytic							58.0	60.0	60.0					14																	65263370		2203	4300	6503	SO:0001583	missense	6710	3	121412	34				g.chr14:65263370G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1246C>T	chr14.hg19:g.65263370G>A	ENSP00000374371:p.Arg416Trp	0					SPTB_ENST00000389722.3_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W	p.R416W	NM_000347.5	NP_000338.3	0	1	1	1.986586	P11277	SPTB1_HUMAN		10	1278	-		all_lung(585;4.15e-09)	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	0	1	hg19	c.1246C>T	CCDS32100.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334333	0.81801	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91821	0.5467	10	0.87932	D	0	.	14.3709	0.66838	0.0:0.0:0.8514:0.1485	.	416;420	P11277;Q59FP5	SPTB1_HUMAN;.	W	420;416;416;416;416;416	ENSP00000374372:R416W;ENSP00000451752:R416W;ENSP00000374371:R416W;ENSP00000443882:R416W;ENSP00000374370:R416W	ENSP00000374370:R416W	R	-	1	2	2	SPTB	64333123	64333123	1.000000	0.71417	0.990000	0.47175	0.846000	0.48090	3.197000	0.51028	2.756000	0.94617	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0	0	1		17	2	2	0		0	1	63		63	63	1	2.060000	-3.558323	1	0.170000				8	7		309	305	0		0	0		0	0	63	0		4.553317e-02	8.816614e-04	0	0	0	2	0	8	309
GPX2	2877	broad.mit.edu	37	14	65409265	65409265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	60					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587																																						ENST00000389614.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				4						c.(178-180)cgC>cgT		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						81.0	86.0	85.0					14																	65409265		1953	4119	6072	SO:0001819	synonymous_variant	2877	0	0					g.chr14:65409265G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.180C>T	chr14.hg19:g.65409265G>A		0					CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	p.R60R	NM_002083.3	NP_002074.2	0	1	1	1.986586	P18283	GPX2_HUMAN		1	266	-			Q6PJ52|Q8WWI7|Q9NRP9	Silent	SNP	ENST00000389614.5	1	1	hg19	c.180C>T	CCDS41964.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1	0	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000				68	67		426	422	1		1	1		0	0	114	0		1	1	0	2831	0	3087	0	68	426
TMEM229B	161145	broad.mit.edu	37	14	67940506	67940506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000557006.1	-	4	417	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000357461.2_Silent_p.T45T			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	45						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627																																						ENST00000557006.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998184	0.990000	1.000000																										0				5						c.(133-135)acG>acA		transmembrane protein 229B							60.0	39.0	46.0					14																	67940506		2203	4300	6503	SO:0001819	synonymous_variant	161145	0	0					g.chr14:67940506C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.135G>A	chr14.hg19:g.67940506C>T		0					TMEM229B_ENST00000357461.2_Silent_p.T45T	p.T45T			0	1	1	1.986586	Q8NBD8	T229B_HUMAN		4	417	-				Silent	SNP	ENST00000557006.1	1	1	hg19	c.135G>A	CCDS9783.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_182526			19	19		117	116	1		1	0		0	0	22	0		9.999938e-01	7.653609e-01	0	0	0	19	0	19	117
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353																																						ENST00000261783.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D221Y(1)	large_intestine(1)	11						c.(661-663)Gat>Tat		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						96.0	93.0	94.0					14																	68113681		2203	4300	6503	SO:0001583	missense	384	0	0					g.chr14:68113681G>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.661G>T	chr14.hg19:g.68113681G>T	ENSP00000261783:p.Asp221Tyr	0						p.D221Y	NM_001172.3	NP_001163.1	0	1	1	1.986586	P78540	ARGI2_HUMAN		6	841	+			B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	1	1	hg19	c.661G>T	CCDS9785.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	0	ARG2	67183434	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_001172			56	55		292	287	1		1	1		0	0	70	0		1	9.916538e-01	0	13	0	28	0	56	292
RDH11	51109	broad.mit.edu	37	14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RP11-1012A1.4_ENST00000554493.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D|RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RP11-1012A1.4_ENST00000553306.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	143					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)			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)	CTATGTGCATCTCAAAGCCAT	0.468																																						ENST00000381346.4	0.470000	0.240000	4.100000e-01	2.900000e-01	0.340000	0.354691	0.340000	0.350000																										0				12						c.(427-429)gaG>gaT		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						268.0	252.0	257.0					14																	68157882		2203	4300	6503	SO:0001583	missense	51109	0	0					g.chr14:68157882C>A	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.429G>T	chr14.hg19:g.68157882C>A	ENSP00000370750:p.Glu143Asp	0					RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D|RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RP11-1012A1.4_ENST00000554493.1_5'Flank	p.E143D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	0	1	1	1.986586	Q8TC12	RDH11_HUMAN		4	539	-			A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	1	1	hg19	c.429G>T	CCDS32104.1	0	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.07	2.0	0.26442	6.07	2.0	0.26442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.60455	1.87	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88357	0.2985	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.6434:0.0:0.3566	.	143;130;143	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	143;130;143;42;91	ENSP00000370750:E143D;ENSP00000452079:E130D;ENSP00000416395:E143D;ENSP00000450802:E42D;ENSP00000450435:E91D	ENSP00000370750:E143D	E	-	3	2	2	RDH11	67227635	67227635	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.728000	0.47319	0.081000	0.16988	-0.482000	0.04802	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3	0	0	1		2	2	2	0		0	0	243		243	241	1	2.060000	-2.852116	1	0.170000				36	36		1179	1154	0		1	1		0	0	243	0		1	9.992475e-01	0	31	0	317	0	36	1179
RDH11	51109	broad.mit.edu	37	14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RP11-1012A1.4_ENST00000554493.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L|RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RP11-1012A1.4_ENST00000553306.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					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)			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)	GTGGTCTGGATCTCTTTGGCC	0.483																																						ENST00000381346.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(253-255)Atc>Ctc		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						213.0	202.0	206.0					14																	68159251		2203	4300	6503	SO:0001583	missense	51109	0	0					g.chr14:68159251T>G	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.253A>C	chr14.hg19:g.68159251T>G	ENSP00000370750:p.Ile85Leu	0					RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L|RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RP11-1012A1.4_ENST00000554493.1_5'Flank	p.I85L	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	0	1	1	1.986586	Q8TC12	RDH11_HUMAN		3	363	-			A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	1	1	hg19	c.253A>C	CCDS32104.1	1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923609	0.73213	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130	D;D;D	0.84223	-1.82;-1.82;-1.82	5.41	5.41	0.78517	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	N	0.21617	0.685	0.58432	D	0.999999	P;P;P	0.43477	0.756;0.808;0.551	P;P;P	0.50754	0.555;0.517;0.649	D	0.84727	0.0743	10	0.49607	T	0.09	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	85;72;85	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	85;72;85	ENSP00000370750:I85L;ENSP00000452079:I72L;ENSP00000416395:I85L	ENSP00000370750:I85L	I	-	1	0	0	RDH11	67229004	67229004	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	6.738000	0.74822	2.048000	0.60808	0.528000	0.53228	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3	1	0	1		2	2	2	0		0	0	224		224	224	1	2.060000	-20.000000	1	0.170000				158	155		814	793	1		1	1		0	0	224	0		1	1	0	120	0	328	0	158	814
ZFYVE26	23503	broad.mit.edu	37	14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2017					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)			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)		ATAGGCAGCAGCAACTAAAAT	0.498																																						ENST00000347230.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999121	0.990000	1.000000																										0				94						c.(6049-6051)gCt>gAt		zinc finger, FYVE domain containing 26							85.0	74.0	78.0					14																	68229498		2203	4300	6503	SO:0001583	missense	23503	0	0					g.chr14:68229498G>T	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.6050C>A	chr14.hg19:g.68229498G>T	ENSP00000251119:p.Ala2017Asp	0					ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	p.A2017D	NM_015346.3	NP_056161.2	0	1	1	1.986586	Q68DK2	ZFY26_HUMAN		33	6188	-			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	1	1	hg19	c.6050C>A	CCDS9788.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252266	0.80135	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.62	2.78	0.32641	5.62	2.78	0.32641	.	0.232813	0.43747	D	0.000530	T	0.41511	0.1162	L	0.46157	1.445	0.43426	D	0.995587	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.879	T	0.07809	-1.0753	10	0.31617	T	0.26	-0.1938	8.2721	0.31851	0.1347:0.0:0.7368:0.1285	.	2017;2017	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	2017;1996;2017	ENSP00000251119:A2017D;ENSP00000450603:A2017D	ENSP00000251119:A2017D	A	-	2	0	0	ZFYVE26	67299251	67299251	0.325000	0.24660	0.983000	0.44433	0.994000	0.84299	2.240000	0.43088	0.316000	0.23135	0.563000	0.77884	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_015346			24	23		150	145	1		1	1		0	0	49	0		9.999997e-01	9.848806e-01	0	12	0	33	0	24	150
ZFYVE26	23503	broad.mit.edu	37	14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2016					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)			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)		GGCAGCAGCAACTAAAATATT	0.488																																						ENST00000347230.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999738	0.990000	1.000000																										0				94						c.(6046-6048)gTt>gCt		zinc finger, FYVE domain containing 26							83.0	72.0	76.0					14																	68229501		2203	4300	6503	SO:0001583	missense	23503	0	0					g.chr14:68229501A>G	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.6047T>C	chr14.hg19:g.68229501A>G	ENSP00000251119:p.Val2016Ala	0					ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	p.V2016A	NM_015346.3	NP_056161.2	0	1	1	1.986586	Q68DK2	ZFY26_HUMAN		33	6185	-			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	1	1	hg19	c.6047T>C	CCDS9788.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.209454	0.95069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.28;1.12	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60125	-0.7324	10	0.52906	T	0.07	-14.7705	15.8326	0.78769	1.0:0.0:0.0:0.0	.	2016;2016	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	2016;1995;2016	ENSP00000251119:V2016A;ENSP00000450603:V2016A	ENSP00000251119:V2016A	V	-	2	0	0	ZFYVE26	67299254	67299254	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.339000	0.96797	2.146000	0.66826	0.460000	0.39030	GTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_015346			25	23		141	136	1		1	1		0	0	47	0		9.999999e-01	9.894935e-01	0	12	0	32	0	25	141
ZFYVE26	23503	broad.mit.edu	37	14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	412					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)			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)		GACCTCCAGGTGAGCCCACAA	0.602																																						ENST00000347230.4	1.000000	0.660000	1	8.700000e-01	0.990000	0.954785	0.990000	1.000000																										0				94						c.(1234-1236)cAc>cGc		zinc finger, FYVE domain containing 26							63.0	51.0	55.0					14																	68271970		2203	4300	6503	SO:0001583	missense	23503	0	0					g.chr14:68271970T>C	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.1235A>G	chr14.hg19:g.68271970T>C	ENSP00000251119:p.His412Arg	0					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	p.H412R	NM_015346.3	NP_056161.2	0	1	1	1.986586	Q68DK2	ZFY26_HUMAN		8	1373	-			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	1	1	hg19	c.1235A>G	CCDS9788.1	1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927777	0.73327	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.053647	0.85682	D	0.000000	T	0.43545	0.1252	L	0.51422	1.61	0.42057	D	0.991149	D;D;P	0.67145	0.996;0.992;0.842	P;P;B	0.62089	0.898;0.77;0.138	T	0.21895	-1.0232	10	0.46703	T	0.11	-19.8127	16.3196	0.82941	0.0:0.0:0.0:1.0	.	412;412;412	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	412;391;412	ENSP00000251119:H412R;ENSP00000450603:H412R	ENSP00000251119:H412R	H	-	2	0	0	ZFYVE26	67341723	67341723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-19.944480	1	0.170000	NM_015346			14	13		130	128	0		1	0		0	0	30	0		9.997728e-01	6.993742e-01	0	1	0	23	0	14	130
ACTN1	87	broad.mit.edu	37	14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000193403.6	-	10	1267	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	295	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)			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)		CTCCAGCCACGGGATTGTGCG	0.657																																						ENST00000193403.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(883-885)cCg>cTg		actinin, alpha 1							61.0	59.0	60.0					14																	69358972		2203	4300	6503	SO:0001583	missense	87	2	121412	32				g.chr14:69358972G>A	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.884C>T	chr14.hg19:g.69358972G>A	ENSP00000193403:p.Pro295Leu	0					ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L	p.P295L	NM_001102.3	NP_001093.1	0	1	1	1.986586	P12814	ACTN1_HUMAN		10	1267	-			B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	1	1	hg19	c.884C>T	CCDS9792.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.224766	0.95173	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616	T;T;T;T;T;T	0.66995	0.75;0.75;0.75;0.75;0.75;-0.24	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.999	P;P;D;D	0.71656	0.761;0.841;0.974;0.955	T	0.82190	-0.0580	10	0.72032	D	0.01	.	17.6725	0.88222	0.0:0.0:1.0:0.0	.	295;295;295;295	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	L	295;295;295;230;295;230	ENSP00000193403:P295L;ENSP00000377941:P295L;ENSP00000414272:P295L;ENSP00000366035:P230L;ENSP00000439828:P295L;ENSP00000450903:P230L	ENSP00000193403:P295L	P	-	2	0	0	ACTN1	68428725	68428725	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.641000	0.98458	2.383000	0.81215	0.643000	0.83706	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	1	0	1		2	2	2	0		0	0	115		115	111	1	2.060000	-2.629546	1	0.170000	NM_001102			80	78		385	378	1		1	1		0	0	115	0		1	1	0	187	0	733	0	80	385
DCAF5	8816	broad.mit.edu	37	14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	660					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498																																						ENST00000341516.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1978-1980)atT>atG		DDB1 and CUL4 associated factor 5							60.0	66.0	64.0					14																	69521423		2203	4300	6503	SO:0001583	missense	8816	0	0					g.chr14:69521423A>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1980T>G	chr14.hg19:g.69521423A>C	ENSP00000341351:p.Ile660Met	0					DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000553293.1_5'Flank	p.I660M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	0	1	1	1.986586	Q96JK2	DCAF5_HUMAN		9	2127	-			B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	1	1	hg19	c.1980T>G	CCDS32106.1	1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589626	0.46214	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76060	-0.99;-0.83;-0.83;-0.43	5.52	3.18	0.36537	5.52	3.18	0.36537	.	0.000000	0.64402	D	0.000004	T	0.75817	0.3901	L	0.32530	0.975	0.42590	D	0.993244	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75099	-0.3437	10	0.62326	D	0.03	-9.6901	6.6175	0.22784	0.6408:0.0:0.3592:0.0	.	659;660	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	660;578;578;659	ENSP00000341351:I660M;ENSP00000451551:I578M;ENSP00000452052:I578M;ENSP00000451845:I659M	ENSP00000341351:I660M	I	-	3	3	3	DCAF5	68591176	68591176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.686000	0.37669	0.933000	0.37291	0.459000	0.35465	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_003861			81	80		355	347	1		1	1		0	0	63	0		1	1	0	20	0	108	0	81	355
EXD2	55218	broad.mit.edu	37	14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409018.3	+	3	507	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000409014.1_Missense_Mutation_p.A2T	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	127							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498																																						ENST00000409018.3	1.000000	0.630000	1	8.100000e-01	0.990000	0.931291	0.990000	1.000000																										0				14						c.(379-381)Gcc>Acc		exonuclease 3'-5' domain containing 2							68.0	63.0	65.0					14																	69695578		2203	4300	6503	SO:0001583	missense	55218	0	0					g.chr14:69695578G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.379G>A	chr14.hg19:g.69695578G>A	ENSP00000387331:p.Ala127Thr	0					EXD2_ENST00000409014.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T	p.A127T	NM_001193361.1	NP_001180290.1	0	1	1	1.986586	Q9NVH0	EXD2_HUMAN		3	507	+			B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	1	1	hg19	c.379G>A	CCDS53902.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649751	0.87958	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.77229	-0.12;-0.6;-0.6;-0.6;-0.6;-0.12;-1.08;-0.6	5.63	5.63	0.86233	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.095984	0.64402	D	0.000001	D	0.88800	0.6535	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;0.988	D;D	0.77557	0.99;0.932	D	0.89341	0.3654	10	0.72032	D	0.01	-13.0244	19.686	0.95979	0.0:0.0:1.0:0.0	.	127;2	G5E947;Q9NVH0	.;EXD2_HUMAN	T	127;127;2;2;2;2;127;2;2	ENSP00000387331:A127T;ENSP00000386915:A2T;ENSP00000386762:A2T;ENSP00000386632:A2T;ENSP00000386839:A2T;ENSP00000313140:A127T;ENSP00000409089:A2T;ENSP00000392177:A2T	ENSP00000193422:A127T	A	+	1	0	0	EXD2	68765331	68765331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.677000	0.61634	2.659000	0.90383	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-19.999970	1	0.170000				18	17		188	184	1		1	1		0	0	37	0		9.999822e-01	9.392442e-01	0	7	0	45	0	18	188
SLC39A9	55334	broad.mit.edu	37	14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000336643.5	+	6	1347	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	223					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413																																						ENST00000336643.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(667-669)atG>atT		solute carrier family 39, member 9							129.0	116.0	120.0					14																	69922559		2203	4300	6503	SO:0001583	missense	55334	0	0					g.chr14:69922559G>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.669G>T	chr14.hg19:g.69922559G>T	ENSP00000336887:p.Met223Ile	0					SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000555245.1_3'UTR	p.M223I	NM_018375.4	NP_060845.2	0	1	1	1.986586	Q9NUM3	S39A9_HUMAN		6	1347	+			G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	1	1	hg19	c.669G>T	CCDS9795.1	1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007382	0.19199	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.40756	1.02;1.02;1.02	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.035383	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00405	-1.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.003	B;B;B	0.10450	0.002;0.004;0.005	T	0.37776	-0.9691	10	0.02654	T	1	-17.3407	18.8944	0.92417	0.0:0.0:1.0:0.0	.	200;223;223	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	223;223;200	ENSP00000452385:M223I;ENSP00000336887:M223I;ENSP00000451833:M200I	ENSP00000031146:M223I	M	+	3	0	0	SLC39A9	68992312	68992312	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.674000	0.83992	2.696000	0.92011	0.467000	0.42956	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-2.853555	1	0.170000	NM_018375			96	94		403	398	1		1	1		0	0	95	0		1	1	0	52	0	95	0	96	403
SLC10A1	6554	broad.mit.edu	37	14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A	rs200149939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	185					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)			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)	ATGACATAGCGCATGTATTGT	0.403																																						ENST00000216540.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(553-555)Cgc>Tgc		solute carrier family 10 (sodium/bile acid cotransporter), member 1	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)	G	CYS/ARG	1,4405		0,1,2202	169.0	146.0	154.0		553	3.2	0.4	14		154	0,8600		0,0,4300	no	missense	SLC10A1	NM_003049.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	185/350	70252828	1,13005	2203	4300	6503	SO:0001583	missense	6554	1	121412	34				g.chr14:70252828G>A	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.553C>T	chr14.hg19:g.70252828G>A	ENSP00000216540:p.Arg185Cys	0						p.R185C	NM_003049.3	NP_003040.1	0	1	1	1.986586	Q14973	NTCP_HUMAN		2	686	-			B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	1	1	hg19	c.553C>T	CCDS9797.1	1	.	.	.	.	.	.	.	.	.	.	G	3.033	-0.199272	0.06219	2.27E-4	0.0	ENSG00000100652	ENST00000216540	T	0.12672	2.66	5.01	3.15	0.36227	5.01	3.15	0.36227	.	0.641375	0.16982	N	0.191666	T	0.19287	0.0463	M	0.80183	2.485	0.09310	N	1	B	0.21147	0.052	B	0.16722	0.016	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.434	9.8085	0.40808	0.0762:0.3746:0.5491:0.0	.	185	Q14973	NTCP_HUMAN	C	185	ENSP00000216540:R185C	ENSP00000216540:R185C	R	-	1	0	0	SLC10A1	69322581	69322581	0.002000	0.14202	0.444000	0.26895	0.010000	0.07245	0.911000	0.28584	0.793000	0.33875	-0.305000	0.09177	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				55	55		298	292	1		1	0		0	0	76	0		1	2.525716e-02	0	0	0	2	0	55	298
SMOC1	64093	broad.mit.edu	37	14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	7					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736																																						ENST00000381280.4	1.000000	0.890000	1	9.900000e-01	0.990000	0.993765	0.990000	1.000000																										0				21						c.(19-21)Gcc>Acc		SPARC related modular calcium binding 1							6.0	7.0	7.0					14																	70346414		2127	4163	6290	SO:0001583	missense	64093	0	0					g.chr14:70346414G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.19G>A	chr14.hg19:g.70346414G>A	ENSP00000370680:p.Ala7Thr	0					SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	0	1	1	1.986586	Q9H4F8	SMOC1_HUMAN		1	272	+			A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	0	1	hg19	c.19G>A	CCDS9798.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815761	0.32145	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57752	0.38;0.39	5.1	3.23	0.37069	5.1	3.23	0.37069	.	0.925262	0.08828	U	0.887818	T	0.27063	0.0663	N	0.08118	0	0.21897	N	0.999486	B;B	0.29805	0.257;0.167	B;B	0.19666	0.026;0.012	T	0.13629	-1.0502	10	0.11182	T	0.66	-2.7874	7.5362	0.27712	0.0926:0.1659:0.7415:0.0	.	7;7	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	7	ENSP00000355110:A7T;ENSP00000370680:A7T	ENSP00000355110:A7T	A	+	1	0	0	SMOC1	69416167	69416167	0.973000	0.33851	1.000000	0.80357	0.343000	0.28985	0.343000	0.19944	1.141000	0.42275	0.306000	0.20318	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.769680	1	0.170000				11	11		63	62	0		1	1		0	0	14	0		9.986672e-01	5.699205e-01	0	5	0	7	0	11	63
SLC8A3	6547	broad.mit.edu	37	14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	445	Calx-beta 1.				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)			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)		AACTCATAGTCAGCCCCTGCA	0.512																																						ENST00000381269.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1333-1335)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 3							148.0	140.0	143.0					14																	70633807		2203	4300	6503	SO:0001583	missense	6547	0	0					g.chr14:70633807C>T	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.1333G>A	chr14.hg19:g.70633807C>T	ENSP00000370669:p.Asp445Asn	0					SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N	p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	0	1	1	1.986586	P57103	NAC3_HUMAN		2	2086	-			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	1	1	hg19	c.1333G>A	CCDS35498.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129873	0.77549	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.72	5.72	0.89469	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.86941	0.2079	10	0.54805	T	0.06	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	445;445;445;445	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	445	ENSP00000349392:D445N;ENSP00000370669:D445N;ENSP00000350560:D445N;ENSP00000436688:D445N;ENSP00000433531:D445N	ENSP00000349392:D445N	D	-	1	0	0	SLC8A3	69703560	69703560	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	1	0	1		2	2	2	0		0	0	163		163	161	1	2.060000	-20.000000	1	0.170000				188	183		747	731	1		1			0	0	163	0		1	0	0	0	0	0	0	188	747
ADAM21	8747	broad.mit.edu	37	14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	257	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			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)		ATTTTGATTGGAATTGAAATT	0.363																																						ENST00000603540.1	0.740000	0.300000	6.200000e-01	3.900000e-01	0.490000	0.512752	0.490000	0.490000																										0				31						c.(769-771)gGa>gAa		ADAM metallopeptidase domain 21							57.0	63.0	61.0					14																	70924986		2203	4300	6503	SO:0001583	missense	8747	0	0					g.chr14:70924986G>A	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.770G>A	chr14.hg19:g.70924986G>A	ENSP00000474385:p.Gly257Glu	0					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E	p.G257E	NM_003813.3	NP_003804.2	0	1	1	1.986586	Q9UKJ8	ADA21_HUMAN		2	1028	+			O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	1	1	hg19	c.770G>A	CCDS9804.1	0	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992807	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.11385	2.78	3.86	0.557	0.17260	3.86	0.557	0.17260	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44902	D	0.000420	T	0.34279	0.0892	M	0.91406	3.205	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.07501	-1.0769	10	0.87932	D	0	.	8.2495	0.31708	0.0:0.1501:0.5415:0.3084	.	257	Q9UKJ8	ADA21_HUMAN	E	257	ENSP00000267499:G257E	ENSP00000267499:G257E	G	+	2	0	0	ADAM21	69994739	69994739	0.419000	0.25449	0.985000	0.45067	0.259000	0.26198	0.817000	0.27281	0.365000	0.24400	-0.321000	0.08615	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-17.949490	1	0.170000				18	17		409	384	0		1			0	0	86	0		9.999694e-01	0	0	0	0	0	0	18	409
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					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)			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)		TGTTTACTGTCGGGCTTCTTA	0.413													c|||	2	0.000399361	0.0015	0.0	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.0					ENST00000603540.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2101-2103)gtC>gtT		ADAM metallopeptidase domain 21		T		6,4400	11.4+/-27.6	0,6,2197	81.0	74.0	77.0		2103	-2.4	0.0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8747	18	121412	44				g.chr14:70926319C>T	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.2103C>T	chr14.hg19:g.70926319C>T		0					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V701V	p.V701V	NM_003813.3	NP_003804.2	0	1	1	1.986586	Q9UKJ8	ADA21_HUMAN		2	2361	+			O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	1	1	hg19	c.2103C>T	CCDS9804.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.375231	1	0.170000				85	83		351	337	1		1	0		0	0	82	0		1	3.891160e-02	0	0	0	2	0	85	351
ADAM20	8748	broad.mit.edu	37	14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	49					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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517																																						ENST00000256389.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(295-297)Atc>Ctc		ADAM metallopeptidase domain 20							81.0	73.0	76.0					14																	70991330		2203	4300	6503	SO:0001583	missense	8748	0	0					g.chr14:70991330T>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.295A>C	chr14.hg19:g.70991330T>G	ENSP00000256389:p.Ile99Leu	0					RP11-486O13.4_ENST00000556646.1_lincRNA	p.I99L	NM_003814.4	NP_003805.3	0	1	1	1.986586	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	2	539	-			Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	1	1	hg19	c.295A>C	CCDS32111.1	1	.	.	.	.	.	.	.	.	.	.	T	8.508	0.865782	0.17250	.	.	ENSG00000134007	ENST00000256389	T	0.05649	3.41	4.14	0.241	0.15494	4.14	0.241	0.15494	Peptidase M12B, propeptide (1);	0.390677	0.17933	U	0.157114	T	0.04588	0.0125	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33752	-0.9856	10	0.66056	D	0.02	.	6.0527	0.19794	0.0:0.0836:0.3142:0.6021	.	49	O43506	ADA20_HUMAN	L	99	ENSP00000256389:I99L	ENSP00000256389:I99L	I	-	1	0	0	ADAM20	70061083	70061083	0.000000	0.05858	0.075000	0.20258	0.177000	0.22998	-0.244000	0.08903	-0.048000	0.13401	0.528000	0.53228	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000				84	82		289	284	1		1			0	0	76	0		1	0	0	0	0	0	0	84	289
TTC9	23508	broad.mit.edu	37	14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	99										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657																																						ENST00000256367.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998403	0.990000	1.000000																										0				1						c.(295-297)Cgg>Tgg		tetratricopeptide repeat domain 9							8.0	9.0	9.0					14																	71109141		1805	3996	5801	SO:0001583	missense	23508	0	0					g.chr14:71109141C>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.295C>T	chr14.hg19:g.71109141C>T	ENSP00000256367:p.Arg99Trp	0					CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	p.R99W	NM_015351.1	NP_056166.1	0	1	1	1.986586	Q92623	TTC9A_HUMAN		1	638	+			Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	0	1	hg19	c.295C>T	CCDS45132.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327117	0.41197	.	.	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.08	2.0	0.26442	4.08	2.0	0.26442	Tetratricopeptide-like helical (1);	1.444650	0.04344	N	0.354604	T	0.26304	0.0642	L	0.34521	1.04	0.20403	N	0.999902	D	0.63880	0.993	P	0.50352	0.638	T	0.31613	-0.9937	10	0.66056	D	0.02	-7.537	9.1798	0.37134	0.2773:0.5867:0.136:0.0	.	99	Q92623	TTC9A_HUMAN	W	99	ENSP00000256367:R99W	ENSP00000256367:R99W	R	+	1	2	2	TTC9	70178894	70178894	0.963000	0.33076	0.984000	0.44739	0.193000	0.23685	0.935000	0.28924	1.029000	0.39812	0.555000	0.69702	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.997650	1	0.170000	XM_027236			12	11		54	53	0		1	1		0	0	12	0		9.992966e-01	5.814440e-01	0	8	0	2	0	12	54
TTC9	23508	broad.mit.edu	37	14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	139										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512																																						ENST00000256367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(415-417)Ctc>Atc		tetratricopeptide repeat domain 9							50.0	49.0	49.0					14																	71134289		1967	4177	6144	SO:0001583	missense	23508	0	0					g.chr14:71134289C>A	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.415C>A	chr14.hg19:g.71134289C>A	ENSP00000256367:p.Leu139Ile	0						p.L139I	NM_015351.1	NP_056166.1	0	1	1	1.986586	Q92623	TTC9A_HUMAN		2	758	+			Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	1	1	hg19	c.415C>A	CCDS45132.1	1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937230	0.52972	.	.	ENSG00000133985	ENST00000256367	T	0.21932	1.98	5.02	5.02	0.67125	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000021	T	0.44726	0.1307	L	0.58101	1.795	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.23297	-1.0192	10	0.48119	T	0.1	-20.3401	18.5279	0.90980	0.0:1.0:0.0:0.0	.	139	Q92623	TTC9A_HUMAN	I	139	ENSP00000256367:L139I	ENSP00000256367:L139I	L	+	1	0	0	TTC9	70204042	70204042	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	3.420000	0.52735	2.596000	0.87737	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	XM_027236			43	41		186	186	1		1	1		0	0	40	0		1	9.695618e-01	0	11	0	16	0	43	186
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453					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)			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)		AGTGCAGCCCGCGTCAGCTCC	0.627																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				46						c.(1357-1359)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 9							38.0	36.0	36.0					14																	71209278		2203	4300	6503	SO:0001583	missense	4293	2	121408	28				g.chr14:71209278G>A	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.1357C>T	chr14.hg19:g.71209278G>A	ENSP00000451612:p.Arg453Trp	0					MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W	p.R453W	NM_001284230.1	NP_001271159.1	0	1	1	1.986586	P80192	M3K9_HUMAN		6	1356	-			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	1	1	hg19	c.1357C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683396	0.68157	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	6.06	5.12	0.69794	6.06	5.12	0.69794	Protein kinase-like domain (1);	0.115517	0.64402	D	0.000011	D	0.90417	0.7000	M	0.71871	2.18	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	0.999;0.997;0.999;0.998	D	0.90899	0.4767	10	0.87932	D	0	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	190;453;453;147	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	453;453;147;453;190;181	ENSP00000451612:R453W;ENSP00000451038:R147W;ENSP00000370649:R453W;ENSP00000451921:R190W	ENSP00000005198:R453W	R	-	1	2	2	MAP3K9	70279031	70279031	1.000000	0.71417	0.972000	0.41901	0.028000	0.11728	6.623000	0.74238	2.882000	0.98803	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				41	39		206	205	1		1	1		0	0	41	0		1	4.617494e-01	0	2	0	7	0	41	206
MAP3K9	4293	broad.mit.edu	37	14	71267541	71267541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000555993.2_Silent_p.E221E|MAP3K9_ENST00000381250.4_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	221	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)			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)		CACGAGCAAACTCCATGACCA	0.522																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				46						c.(661-663)gaG>gaA		mitogen-activated protein kinase kinase kinase 9							104.0	92.0	96.0					14																	71267541		2203	4300	6503	SO:0001819	synonymous_variant	4293	0	0					g.chr14:71267541C>T	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.663G>A	chr14.hg19:g.71267541C>T		0					MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	p.E221E	NM_001284230.1	NP_001271159.1	0	1	1	1.986586	P80192	M3K9_HUMAN		2	662	-			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	1	1	hg19	c.663G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000				52	51		324	318	1		1	1		0	0	91	0		1	5.414923e-02	0	2	0	1	0	52	324
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	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)			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)		CAGAAAGCACGATAGACCTTC	0.488																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(478-480)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 9							97.0	92.0	94.0					14																	71267726		2203	4300	6503	SO:0001583	missense	4293	1	121412	37				g.chr14:71267726G>A	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.478C>T	chr14.hg19:g.71267726G>A	ENSP00000451612:p.Arg160Cys	0					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	p.R160C	NM_001284230.1	NP_001271159.1	0	1	1	1.986586	P80192	M3K9_HUMAN		2	477	-			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	1	1	hg19	c.478C>T		1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395903	0.83011	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.90004	-2.6;-2.6	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (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	0.95487	0.8534	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95031	0.8169	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160;160	P80192;P80192-4	M3K9_HUMAN;.	C	160	ENSP00000451612:R160C;ENSP00000370649:R160C	ENSP00000005198:R160C	R	-	1	0	0	MAP3K9	70337479	70337479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.503000	0.73699	2.941000	0.99782	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.398731	1	0.170000				94	94		384	379	1		1	1		0	0	96	0		1	2.588969e-01	0	2	0	3	0	94	384
PCNX	22990	broad.mit.edu	37	14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1648						integral component of membrane (GO:0016021)				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)		GGCCATATTCCTCACATGCTT	0.443																																						ENST00000304743.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(4942-4944)cCt>cTt		pecanex homolog (Drosophila)							257.0	218.0	231.0					14																	71540352		2203	4300	6503	SO:0001583	missense	22990	0	0					g.chr14:71540352C>T	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.4943C>T	chr14.hg19:g.71540352C>T	ENSP00000304192:p.Pro1648Leu	0					PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	p.P1648L	NM_014982.2	NP_055797.2	0	1	1	1.986586	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	27	5389	+			B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	1	1	hg19	c.4943C>T	CCDS9806.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520918|4.520918	0.85495|0.85495	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12879	.|3.0;3.03;2.64	4.97|4.97	4.97|4.97	0.65823|0.65823	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.097108	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.79011|0.79011	2.435|2.435	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.72032	.|D	.|0.01	.|.	18.7985|18.7985	0.92007|0.92007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1537;1648	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	F|L	635|1648;1576;1537	.|ENSP00000304192:P1648L;ENSP00000238570:P1576L;ENSP00000396617:P1537L	.|ENSP00000238570:P1576L	L|P	+|+	1|2	0|0	0|0	PCNX|PCNX	70610105|70610105	70610105|70610105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.278000|7.278000	0.78587|0.78587	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CTC|CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	1		16	4	2	1		1	1	152		152	152	1	2.060000	-3.075690	1	0.170000	NM_014982			122	121		549	540	1		1	1		1	0	152	0		1	9.995888e-01	0	10	0	65	0	122	549
PCNX	22990	broad.mit.edu	37	14	71543085	71543085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71543085C>A	ENST00000304743.2	+	28	5732	c.5286C>A	c.(5284-5286)ttC>ttA	p.F1762L	PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L|PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1762						integral component of membrane (GO:0016021)				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)		GGGAGAGTTTCTGTGTGATTT	0.418																																						ENST00000304743.2	0.540000	0.160000	4.300000e-01	2.300000e-01	0.320000	0.338140	0.320000	0.310000																										0				87						c.(5284-5286)ttC>ttA		pecanex homolog (Drosophila)							119.0	108.0	112.0					14																	71543085		2203	4300	6503	SO:0001583	missense	22990	0	0					g.chr14:71543085C>A	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.5286C>A	chr14.hg19:g.71543085C>A	ENSP00000304192:p.Phe1762Leu	0					PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	p.F1762L	NM_014982.2	NP_055797.2	0	1	1	1.986586	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	28	5732	+			B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	0	1	hg19	c.5286C>A	CCDS9806.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765764|4.765764	0.90020|0.90020	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.23950|.	2.13;2.34;1.88|.	5.1|5.1	5.1|5.1	0.69264|0.69264	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.86268|0.86268	2.805|2.805	0.31272|0.31272	N|N	0.691596|0.691596	D;D;D|.	0.58268|.	0.974;0.972;0.982|.	D;P;D|.	0.70487|.	0.969;0.689;0.952|.	T|T	0.74368|0.74368	-0.3688|-0.3688	10|5	0.51188|.	T|.	0.08|.	.|.	13.3761|13.3761	0.60739|0.60739	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	1690;1651;1762|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|Y	1762;1690;1651|749	ENSP00000304192:F1762L;ENSP00000238570:F1690L;ENSP00000396617:F1651L|.	ENSP00000238570:F1690L|.	F|S	+|+	3|2	2|0	2|0	PCNX|PCNX	70612838|70612838	70612838|70612838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.355000|2.355000	0.44107|0.44107	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	TTC|TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.209583	1	0.170000	NM_014982			10	10		364	355	0		1	0		0	0	55	0		9.965775e-01	4.131688e-01	0	0	0	49	0	10	364
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral component of membrane (GO:0016021)				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)		GGCTTTCTTGCGACAGAGGGA	0.567																																						ENST00000304743.2	1.000000	0.730000	1	8.600000e-01	0.990000	0.949559	0.990000	1.000000																										0				87						c.(6637-6639)gCg>gTg		pecanex homolog (Drosophila)							84.0	82.0	83.0					14																	71575657		2203	4300	6503	SO:0001583	missense	22990	2	121412	34				g.chr14:71575657C>T	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.6638C>T	chr14.hg19:g.71575657C>T	ENSP00000304192:p.Ala2213Val	0					PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000556272.1_3'UTR	p.A2213V	NM_014982.2	NP_055797.2	0	1	1	1.986586	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	34	7084	+			B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	1	1	hg19	c.6638C>T	CCDS9806.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	0|2	PCNX|PCNX	70645410|70645410	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	1	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-11.126310	1	0.170000	NM_014982			38	38		401	393	0		1	1		0	0	80	0		1	9.985441e-01	0	8	0	98	0	38	401
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T	rs550985365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000555818.1	+	3	1940	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	531					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)			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)		GAAAATGGATCTCCGTACAAC	0.403																																						ENST00000555818.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1591-1593)tCt>tTt		signal-induced proliferation-associated 1 like 1							95.0	94.0	95.0					14																	72085567		2203	4300	6503	SO:0001583	missense	26037	0	0					g.chr14:72085567C>T	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.1592C>T	chr14.hg19:g.72085567C>T	ENSP00000450832:p.Ser531Phe	0					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F	p.S531F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	0	1	1	1.986586	O43166	SI1L1_HUMAN		3	1940	+			J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	1	1	hg19	c.1592C>T	CCDS9807.1	1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619053	0.28801	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.94184	-1.18;-1.17;-1.17;-1.96;-3.37	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.109437	0.64402	D	0.000005	D	0.94231	0.8148	L	0.53249	1.67	0.36692	D	0.87964	B;B;B;P;B	0.39094	0.391;0.0;0.236;0.659;0.138	P;B;B;B;B	0.48368	0.575;0.004;0.206;0.419;0.037	D	0.95998	0.8991	10	0.59425	D	0.04	-6.6639	19.0004	0.92830	0.0:1.0:0.0:0.0	.	6;531;6;531;531	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	531;531;531;6;32	ENSP00000370630:S531F;ENSP00000450832:S531F;ENSP00000351352:S531F;ENSP00000440682:S6F;ENSP00000452450:S32F	ENSP00000351352:S531F	S	+	2	0	0	SIPA1L1	71155320	71155320	1.000000	0.71417	0.726000	0.30738	0.035000	0.12851	4.646000	0.61411	2.497000	0.84241	0.655000	0.94253	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_015556			57	57		287	280	1		1	1		0	0	57	0		1	9.999669e-01	0	4	0	75	0	57	287
SIPA1L1	26037	broad.mit.edu	37	14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000555818.1	+	4	2113	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	589					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)			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)		CCTGCGGTTGGCCTTCAACAC	0.537																																						ENST00000555818.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1765-1767)Gcc>Acc		signal-induced proliferation-associated 1 like 1							160.0	132.0	142.0					14																	72090900		2203	4300	6503	SO:0001583	missense	26037	0	0					g.chr14:72090900G>A	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.1765G>A	chr14.hg19:g.72090900G>A	ENSP00000450832:p.Ala589Thr	0					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T	p.A589T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	0	1	1	1.986586	O43166	SI1L1_HUMAN		4	2113	+			J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	1	1	hg19	c.1765G>A	CCDS9807.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.453277	0.96223	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.043925	0.85682	D	0.000000	D	0.97204	0.9086	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.958;1.0;1.0;0.455	D;P;D;D;B	0.97110	0.999;0.767;1.0;0.997;0.091	D	0.97588	1.0115	10	0.87932	D	0	-25.7563	19.12	0.93358	0.0:0.0:1.0:0.0	.	64;589;64;589;589	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	589;589;589;64;90	ENSP00000370630:A589T;ENSP00000450832:A589T;ENSP00000351352:A589T;ENSP00000440682:A64T;ENSP00000452450:A90T	ENSP00000351352:A589T	A	+	1	0	0	SIPA1L1	71160653	71160653	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_015556			76	75		370	366	1		1	0		0	0	112	0		1	9.981278e-01	0	1	0	46	0	76	370
SIPA1L1	26037	broad.mit.edu	37	14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000555818.1	+	10	3535	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*	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)			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)		GTTTCCCTTCCGAAATAATAA	0.512																																						ENST00000555818.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3187-3189)Cga>Tga		signal-induced proliferation-associated 1 like 1							104.0	101.0	102.0					14																	72152161		2203	4300	6503	SO:0001587	stop_gained	26037	0	0					g.chr14:72152161C>T	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.3187C>T	chr14.hg19:g.72152161C>T	ENSP00000450832:p.Arg1063*	0					SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*	p.R1063*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	0	1	1	1.986586	O43166	SI1L1_HUMAN		10	3535	+			J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	0	1	hg19	c.3187C>T	CCDS9807.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.980838	0.99025	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3747	12.7979	0.57569	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1063;1063;1063;538	.	ENSP00000351352:R1063X	R	+	1	2	2	SIPA1L1	71221914	71221914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	2.726000	0.93360	0.561000	0.74099	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-2.610589	1	0.170000	NM_015556			107	105		463	452	0		1	0		0	0	129	0		1	9.998903e-01	0	0	0	59	0	107	463
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000555818.1	+	11	3865	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					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)			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)		GTCCATGCCCGAAGGGTAGTT	0.483																																						ENST00000555818.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3517-3519)Gaa>Aaa		signal-induced proliferation-associated 1 like 1							107.0	105.0	105.0					14																	72165840		2203	4300	6503	SO:0001583	missense	26037	2	121412	38				g.chr14:72165840G>A	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.3517G>A	chr14.hg19:g.72165840G>A	ENSP00000450832:p.Glu1173Lys	0					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K	p.E1173K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	0	1	1	1.986586	O43166	SI1L1_HUMAN		11	3865	+			J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	1	1	hg19	c.3517G>A	CCDS9807.1	1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835268	0.32421	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.58	4.7	0.59300	5.58	4.7	0.59300	.	0.047490	0.85682	D	0.000000	T	0.40862	0.1134	L	0.42245	1.32	0.58432	D	0.999997	B;P;B;P;B	0.38370	0.276;0.628;0.343;0.525;0.011	B;B;B;B;B	0.23018	0.043;0.039;0.042;0.043;0.002	T	0.45556	-0.9253	10	0.72032	D	0.01	-19.5596	14.4261	0.67218	0.0706:0.0:0.9294:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1173;1173;1173;648	ENSP00000370630:E1173K;ENSP00000450832:E1173K;ENSP00000351352:E1173K;ENSP00000440682:E648K	ENSP00000351352:E1173K	E	+	1	0	0	SIPA1L1	71235593	71235593	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	6.778000	0.75043	1.379000	0.46325	-0.251000	0.11542	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.143560	1	0.170000	NM_015556			60	59		266	262	1		1	0		0	0	61	0		1	9.960623e-01	0	1	0	39	0	60	266
SIPA1L1	26037	broad.mit.edu	37	14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000555818.1	+	21	5542	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1732					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)			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)		CAGCAGTAAAGACTCCTCTCC	0.423																																						ENST00000555818.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				78						c.(5194-5196)Gac>Tac		signal-induced proliferation-associated 1 like 1							94.0	84.0	87.0					14																	72204965		2203	4300	6503	SO:0001583	missense	26037	0	0					g.chr14:72204965G>T	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.5194G>T	chr14.hg19:g.72204965G>T	ENSP00000450832:p.Asp1732Tyr	0					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y	p.D1732Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	0	1	1	1.986586	O43166	SI1L1_HUMAN		21	5542	+			J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	1	1	hg19	c.5194G>T	CCDS9807.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211485	0.58343	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.03	0.67393	5.92	5.03	0.67393	.	0.134229	0.64402	D	0.000003	T	0.41213	0.1149	L	0.36672	1.1	0.51767	D	0.999936	B;P;B;B;D	0.54397	0.374;0.896;0.389;0.374;0.966	B;P;B;B;P	0.57204	0.203;0.701;0.369;0.203;0.815	T	0.33979	-0.9847	10	0.72032	D	0.01	-18.8942	15.3804	0.74651	0.0668:0.0:0.9332:0.0	.	1185;1731;1185;1711;1732	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1711;1732;1710;1185	ENSP00000370630:D1711Y;ENSP00000450832:D1732Y;ENSP00000351352:D1710Y;ENSP00000440682:D1185Y	ENSP00000351352:D1732Y	D	+	1	0	0	SIPA1L1	71274718	71274718	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	7.087000	0.76893	1.521000	0.48983	0.561000	0.74099	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_015556			37	37		211	203	1		1	1		0	0	58	0		1	9.999984e-01	0	2	0	119	0	37	211
DPF3	8110	broad.mit.edu	37	14	73159903	73159903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	ENST00000556509.1	-	7	622	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.K208T|DPF3_ENST00000546183.1_Missense_Mutation_p.K218T	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	208					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)			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)		CGGTCGGTTCTTGTAGCGCTT	0.547																																						ENST00000556509.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				22						c.(622-624)aAg>aCg		D4, zinc and double PHD fingers, family 3							89.0	92.0	91.0					14																	73159903		2002	4188	6190	SO:0001583	missense	8110	0	0					g.chr14:73159903T>G	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.623A>C	chr14.hg19:g.73159903T>G	ENSP00000450518:p.Lys208Thr	0					DPF3_ENST00000541685.1_Missense_Mutation_p.K208T|DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR	p.K208T	NM_001280542.1	NP_001267471.1	0	1	1	1.986586	Q92784	DPF3_HUMAN		7	622	-			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	0	1	hg19	c.623A>C		1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326574	0.81690	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.92858	-3.12;-0.53;-0.61	5.49	5.49	0.81192	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95893	0.8663	M	0.82323	2.585	0.80722	D	1	P;P;D	0.57899	0.569;0.532;0.981	P;B;D	0.65140	0.455;0.19;0.932	D	0.96480	0.9355	9	0.87932	D	0	.	15.5857	0.76479	0.0:0.0:0.0:1.0	.	218;208;208	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	208;207;208;218	ENSP00000450518:K208T;ENSP00000441640:K208T;ENSP00000444662:K218T	ENSP00000381791:K263T	K	-	2	0	0	DPF3	72229656	72229656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	2.081000	0.62600	0.459000	0.35465	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				49	48		285	273	0		1			0	0	67	0		1	0	0	0	0	0	0	49	285
DCAF4	26094	broad.mit.edu	37	14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000358377.2	+	7	839	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517																																						ENST00000358377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(619-621)Ctg>Atg		DDB1 and CUL4 associated factor 4							191.0	175.0	181.0					14																	73412676		2203	4300	6503	SO:0001583	missense	26094	0	0					g.chr14:73412676C>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.619C>A	chr14.hg19:g.73412676C>A	ENSP00000351147:p.Leu207Met	0					DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M	p.L207M	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	0	1	1	1.986586	Q8WV16	DCAF4_HUMAN		7	839	+			B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	1	1	hg19	c.619C>A	CCDS9809.1	1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011983	0.35511	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.73575	0.28;-0.44;-0.76;0.31;-0.13;4.76	6.04	4.98	0.66077	6.04	4.98	0.66077	.	0.233339	0.44483	D	0.000451	D	0.83308	0.5226	M	0.63843	1.955	0.24821	N	0.992582	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.78314	0.909;0.984;0.991;0.991;0.956;0.976	T	0.74884	-0.3512	10	0.41790	T	0.15	.	15.0067	0.71519	0.0:0.8821:0.0:0.1179	.	146;185;207;207;146;207	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	M	207;146;107;146;207;107	ENSP00000351147:L207M;ENSP00000345176:L146M;ENSP00000377781:L107M;ENSP00000426178:L146M;ENSP00000452131:L207M;ENSP00000451186:L107M	ENSP00000345176:L146M	L	+	1	2	2	DCAF4	72482429	72482429	0.340000	0.24792	0.621000	0.29145	0.112000	0.19704	0.772000	0.26647	2.873000	0.98535	0.561000	0.74099	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	1	0	1		2	2	2	0		0	0	224		224	224	1	2.060000	-20.000000	1	0.170000	NM_015604			195	192		845	830	1		1	1		0	0	224	0		1	9.834583e-01	0	5	0	25	0	195	845
RBM25	58517	broad.mit.edu	37	14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	383	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)			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)		GATCGCAGTCGATCAAGGTAA	0.463																																						ENST00000261973.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				31						c.(1147-1149)cGa>cAa		RNA binding motif protein 25							65.0	57.0	60.0					14																	73570180		2203	4300	6503	SO:0001583	missense	58517	0	0					g.chr14:73570180G>A	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.1148G>A	chr14.hg19:g.73570180G>A	ENSP00000261973:p.Arg383Gln	0					RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	p.R383Q	NM_021239.2	NP_067062.1	0	1	1	1.986586	P49756	RBM25_HUMAN		10	1433	+			A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	1	1	hg19	c.1148G>A	CCDS32113.1	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123003	0.56613	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.055040	0.64402	D	0.000002	T	0.60818	0.2298	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.58335	-0.7654	10	0.32370	T	0.25	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	383	P49756	RBM25_HUMAN	Q	383	ENSP00000261973:R383Q;ENSP00000431150:R383Q	ENSP00000261973:R383Q	R	+	2	0	0	RBM25	72639933	72639933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.429091	1	0.170000	XM_027330			28	27		133	129	1		1	1		0	0	46	0		1	1	0	87	0	195	0	28	133
PSEN1	5663	broad.mit.edu	37	14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000324501.5	+	9	1210	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	313					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368																																						ENST00000324501.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(937-939)tCc>tTc		presenilin 1							91.0	86.0	87.0					14																	73673163		2203	4300	6503	SO:0001583	missense	5663	0	0					g.chr14:73673163C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.938C>T	chr14.hg19:g.73673163C>T	ENSP00000326366:p.Ser313Phe	0					PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F	p.S313F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	0	1	1	1.986586	P49768	PSN1_HUMAN		9	1210	+			B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	1	1	hg19	c.938C>T	CCDS9812.1	1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298744	0.23650	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.1;-6.1;-6.34;-6.1;-6.34	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.350494	0.34088	N	0.004280	D	0.99190	0.9719	L	0.60455	1.87	0.27257	N	0.958745	B;P	0.35192	0.122;0.489	B;P	0.50136	0.285;0.632	D	0.97887	1.0295	10	0.24483	T	0.36	-3.8894	13.9605	0.64175	0.1519:0.848:0.0:0.0	.	309;313	P49768-2;P49768	.;PSN1_HUMAN	F	313;309;313;313;309;313;221	ENSP00000326366:S313F;ENSP00000350342:S309F;ENSP00000261970:S313F;ENSP00000339523:S313F;ENSP00000377719:S309F;ENSP00000451429:S313F;ENSP00000385948:S221F	ENSP00000261970:S313F	S	+	2	0	0	PSEN1	72742916	72742916	0.998000	0.40836	0.920000	0.36463	0.149000	0.21700	3.541000	0.53618	2.587000	0.87381	0.650000	0.86243	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				56	55		213	209	1		1	1		0	0	43	0		1	1	0	101	0	244	0	56	213
PAPLN	89932	broad.mit.edu	37	14	73720627	73720627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000554301.1	+	11	1423	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000427855.1_Silent_p.N420N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	420	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		AGGCCTGTAACCTGCAGCGCT	0.697																																						ENST00000554301.1	1.000000	0.630000	1	8.000000e-01	0.990000	0.925073	0.990000	1.000000																										0				42						c.(1258-1260)aaC>aaT		papilin, proteoglycan-like sulfated glycoprotein							23.0	24.0	24.0					14																	73720627		2198	4295	6493	SO:0001819	synonymous_variant	89932	0	0					g.chr14:73720627C>T	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.1260C>T	chr14.hg19:g.73720627C>T		0					PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000427855.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N	p.N420N			0	1	1	1.986586	O95428	PPN_HUMAN		11	1423	+			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	1	1	hg19	c.1260C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_173462			19	19		203	200	0		1	0		0	0	41	0		9.999916e-01	9.604739e-02	0	0	0	6	0	19	203
PAPLN	89932	broad.mit.edu	37	14	73721304	73721304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000554301.1	+	12	1549	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000427855.1_Silent_p.A462A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	462	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		ATACCGCAGCGTGCTCCTTGG	0.612																																						ENST00000554301.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1384-1386)gcG>gcA		papilin, proteoglycan-like sulfated glycoprotein							177.0	166.0	170.0					14																	73721304		2203	4300	6503	SO:0001819	synonymous_variant	89932	2	121412	37				g.chr14:73721304G>A	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.1386G>A	chr14.hg19:g.73721304G>A		0					PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000427855.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A	p.A462A			0	1	1	1.986586	O95428	PPN_HUMAN		12	1549	+			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	1	1	hg19	c.1386G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	0		2	2	2	0		0	0	132		132	129	1	2.060000	-20.000000	1	0.170000	NM_173462			127	125		614	607	1		1	0		0	0	132	0		1	9.088632e-01	0	1	0	21	0	127	614
PAPLN	89932	broad.mit.edu	37	14	73729383	73729383	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73729383C>A	ENST00000554301.1	+	18	2734	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000427855.1_Silent_p.L857L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	857						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		CTGGTGGTCTCTGGCGGCAAG	0.687																																						ENST00000554301.1	1.000000	0.750000	1	9.900000e-01	0.990000	0.981787	0.990000	1.000000																										0				42						c.(2569-2571)ctC>ctA		papilin, proteoglycan-like sulfated glycoprotein							10.0	12.0	12.0					14																	73729383		2188	4284	6472	SO:0001819	synonymous_variant	89932	0	0					g.chr14:73729383C>A	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.2571C>A	chr14.hg19:g.73729383C>A		0					PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000427855.1_Silent_p.L857L|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR	p.L857L			0	1	1	1.986586	O95428	PPN_HUMAN		18	2734	+			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	0	1	hg19	c.2571C>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-16.622050	1	0.170000	NM_173462			9	9		60	58	1		1	0		0	0	13	0		9.945707e-01	8.148374e-01	0	0	0	23	0	9	60
PAPLN	89932	broad.mit.edu	37	14	73730979	73730979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000554301.1	+	20	3085	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000427855.1_Silent_p.G974G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	974	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		AGGACGCGGGCACCTACAGCT	0.637																																						ENST00000554301.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				42						c.(2920-2922)ggC>ggT		papilin, proteoglycan-like sulfated glycoprotein							70.0	71.0	71.0					14																	73730979		2203	4300	6503	SO:0001819	synonymous_variant	89932	0	0					g.chr14:73730979C>T	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.2922C>T	chr14.hg19:g.73730979C>T		0					PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000427855.1_Silent_p.G974G|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR	p.G974G			0	1	1	1.986586	O95428	PPN_HUMAN		20	3085	+			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	1	1	hg19	c.2922C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_173462			64	62		404	397	1		1	1		0	0	83	0		1	8.017729e-01	0	2	0	19	0	64	404
PAPLN	89932	broad.mit.edu	37	14	73733247	73733247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73733247G>A	ENST00000554301.1	+	23	3465	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000427855.1_Missense_Mutation_p.R1101Q			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1101	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		GTCATTAGCCGAGTGGCTGTA	0.602																																						ENST00000554301.1	0.700000	0.150000	5.400000e-01	2.400000e-01	0.370000	0.399622	0.370000	0.340000																										0				42						c.(3301-3303)cGa>cAa		papilin, proteoglycan-like sulfated glycoprotein							55.0	47.0	50.0					14																	73733247		2203	4300	6503	SO:0001583	missense	89932	1	121410	28				g.chr14:73733247G>A	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.3302G>A	chr14.hg19:g.73733247G>A	ENSP00000451803:p.Arg1101Gln	0					PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000427855.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron	p.R1101Q			0	1	1	1.986586	O95428	PPN_HUMAN		23	3465	+			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	0	1	hg19	c.3302G>A		0	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229254	0.22542	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.8	-9.05	0.00730	4.8	-9.05	0.00730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17662	0.0424	N	0.21617	0.685	0.39908	D	0.973995	B;B;B;B	0.28082	0.018;0.2;0.145;0.17	B;B;B;B	0.22386	0.023;0.039;0.024;0.01	T	0.05582	-1.0876	9	0.39692	T	0.17	.	17.017	0.86422	0.1111:0.0945:0.7944:0.0	.	1085;1101;300;1074	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	Q	1074;1101;1101;1085	ENSP00000345395:R1074Q;ENSP00000403403:R1101Q;ENSP00000451803:R1101Q;ENSP00000451729:R1085Q	ENSP00000345395:R1074Q	R	+	2	0	0	PAPLN	72803000	72803000	0.000000	0.05858	0.004000	0.12327	0.435000	0.31806	-0.129000	0.10515	-1.380000	0.02115	-1.069000	0.02264	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.435678	1	0.170000	NM_173462			6	6		192	184	0		1	0		0	0	53	0		9.610054e-01	1.350509e-01	0	0	0	18	0	6	192
HEATR4	399671	broad.mit.edu	37	14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V|HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	728										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)		GAGAAGCTTGGCGGTCATAAG	0.552																																						ENST00000553558.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2182-2184)gCc>gTc		HEAT repeat containing 4							126.0	103.0	111.0					14																	73967357		2203	4300	6503	SO:0001583	missense	399671	0	0					g.chr14:73967357G>A	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.2183C>T	chr14.hg19:g.73967357G>A	ENSP00000450444:p.Ala728Val	0					HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	p.A728V	NM_001220484.1	NP_001207413.1	0	1	1	1.986586	Q86WZ0	HEAT4_HUMAN		12	2504	-			B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	1	1	hg19	c.2183C>T	CCDS9815.2	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567887	0.45798	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.18657	2.2	5.35	4.46	0.54185	5.35	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.382752	0.22466	N	0.059683	T	0.12603	0.0306	N	0.08118	0	0.30039	N	0.812774	B	0.21688	0.059	B	0.26094	0.066	T	0.09574	-1.0668	10	0.36615	T	0.2	-1.7862	13.3102	0.60376	0.078:0.0:0.922:0.0	.	728	Q86WZ0	HEAT4_HUMAN	V	728;681	ENSP00000450444:A728V	ENSP00000335447:A681V	A	-	2	0	0	HEATR4	73037110	73037110	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	2.773000	0.47686	1.384000	0.46424	0.555000	0.69702	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_203309			73	69		302	298	1		1	0		0	0	86	0		1	0	0	0	0	1	0	73	302
HEATR4	399671	broad.mit.edu	37	14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N|HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	283										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)		GTTCTGGCTTCTTCTTTTCCT	0.532																																						ENST00000553558.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(847-849)aaG>aaT		HEAT repeat containing 4							120.0	118.0	119.0					14																	73989008		2203	4300	6503	SO:0001583	missense	399671	0	0					g.chr14:73989008C>A	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.849G>T	chr14.hg19:g.73989008C>A	ENSP00000450444:p.Lys283Asn	0					HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA	p.K283N	NM_001220484.1	NP_001207413.1	0	1	1	1.986586	Q86WZ0	HEAT4_HUMAN		3	1170	-			B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	1	1	hg19	c.849G>T	CCDS9815.2	1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557739	0.13436	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.44083	0.93	5.69	3.88	0.44766	5.69	3.88	0.44766	.	0.173502	0.41097	D	0.000948	T	0.44871	0.1314	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58660	0.843	T	0.26360	-1.0105	10	0.62326	D	0.03	-6.6596	8.6657	0.34118	0.0:0.8262:0.0:0.1738	.	283	Q86WZ0	HEAT4_HUMAN	N	283;236	ENSP00000450444:K283N	ENSP00000335447:K236N	K	-	3	2	2	HEATR4	73058761	73058761	0.010000	0.17322	0.061000	0.19648	0.160000	0.22226	-0.349000	0.07731	0.777000	0.33496	0.561000	0.74099	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_203309			128	128		628	617	1		1	1		0	0	141	0		1	3.400594e-01	0	6	0	1	0	128	628
ENTPD5	957	broad.mit.edu	37	14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000334696.6	-	16	1548	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	410					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498																																						ENST00000334696.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1228-1230)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 5		G	MET/THR	0,4406		0,0,2203	137.0	116.0	123.0		1229	5.1	0.9	14	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ENTPD5	NM_001249.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	410/429	74433689	3,13003	2203	4300	6503	SO:0001583	missense	957	30	121412	47				g.chr14:74433689G>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1229C>T	chr14.hg19:g.74433689G>A	ENSP00000335246:p.Thr410Met	0					ENTPD5_ENST00000557325.1_Intron	p.T410M	NM_001249.2	NP_001240.1	0	1	1	1.986586	O75356	ENTP5_HUMAN		16	1548	-			A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	1	1	hg19	c.1229C>T	CCDS9825.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090243	0.76756	0.0	3.49E-4	ENSG00000187097	ENST00000334696	T	0.10668	2.85	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.108369	0.64402	N	0.000007	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.53490	0.727	T	0.00370	-1.1783	10	0.48119	T	0.1	-22.0174	16.8209	0.85745	0.0:0.0:1.0:0.0	.	410	O75356	ENTP5_HUMAN	M	410	ENSP00000335246:T410M	ENSP00000335246:T410M	T	-	2	0	0	ENTPD5	73503442	73503442	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	6.992000	0.76238	2.638000	0.89438	0.462000	0.41574	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	0	0	1		2	4	2	1		1	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001249			72	71		310	307	1		1	1		1	0	76	0		1	9.907104e-01	0	15	0	37	0	72	310
ALDH6A1	4329	broad.mit.edu	37	14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	101				R -> C (in Ref. 4; BAG57539). {ECO:0000305}.	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)			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)		ACCTGCTGGCGGCTTAATACT	0.468																																						ENST00000553458.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(301-303)Cgc>Tgc		aldehyde dehydrogenase 6 family, member A1							73.0	72.0	73.0					14																	74538953		2203	4300	6503	SO:0001583	missense	4329	0	0					g.chr14:74538953G>A	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.301C>T	chr14.hg19:g.74538953G>A	ENSP00000450436:p.Arg101Cys	0					CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|ALDH6A1_ENST00000555126.1_5'Flank	p.R101C	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	0	1	1	1.986586	Q02252	MMSA_HUMAN		4	399	-			B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	1	1	hg19	c.301C>T	CCDS9826.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623528	0.87460	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.97066	-4.23;-4.23	5.28	5.28	0.74379	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052739	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.87932	D	0	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	101	Q02252	MMSA_HUMAN	C	101	ENSP00000450436:R101C;ENSP00000342564:R101C	ENSP00000342564:R101C	R	-	1	0	0	ALDH6A1	73608706	73608706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.744000	0.94065	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.132031	1	0.170000				55	55		263	260	1		1	0		0	0	55	0		1	9.796092e-01	0	1	0	31	0	55	263
ISCA2	122961	broad.mit.edu	37	14	74961670	74961670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000556816.1	+	4	487	c.432C>T	c.(430-432)tgC>tgT	p.C144C	ISCA2_ENST00000298818.8_3'UTR|NPC2_ENST00000555619.1_5'Flank|NPC2_ENST00000434013.2_5'Flank|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000557510.1_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000554924.1_3'UTR			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	144					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463																																						ENST00000556816.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(430-432)tgC>tgT		iron-sulfur cluster assembly 2							119.0	118.0	118.0					14																	74961670		2203	4300	6503	SO:0001819	synonymous_variant	122961	0	0					g.chr14:74961670C>T		CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898			19857	protein-coding gene	gene with protein product		615317	"""HesB like domain containing 1"", ""iron-sulfur cluster assembly 2 homolog (S. cerevisiae)"""	HBLD1		22323289	Standard	NM_194279		Approved	ISA2	uc001xpz.3	Q86U28		ENST00000556816.1:c.432C>T	chr14.hg19:g.74961670C>T		0					NPC2_ENST00000555619.1_5'Flank|NPC2_ENST00000434013.2_5'Flank|ISCA2_ENST00000298818.8_3'UTR|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000557510.1_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000554924.1_3'UTR	p.C144C			0	1	1	1.986586	Q86U28	ISCA2_HUMAN		4	487	+			A6NFF1|A8K3W3|G3V291|Q8IYZ0|Q96BB2	Silent	SNP	ENST00000556816.1	1	1	hg19	c.432C>T	CCDS32122.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_194279			68	67		403	398	1		1	1		0	0	107	0		1	1	0	56	0	144	0	68	403
LTBP2	4053	broad.mit.edu	37	14	74971732	74971732	+	Silent	SNP	G	G	A	rs535962199		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000261978.4	-	29	4709	c.4323C>T	c.(4321-4323)ggC>ggT	p.G1441G	LTBP2_ENST00000556690.1_Silent_p.G1397G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1441	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCAGCTAGCGCCCTGGGTGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000261978.4	0.580000	0.210000	4.800000e-01	2.800000e-01	0.360000	0.383607	0.360000	0.360000																										0				58						c.(4321-4323)ggC>ggT		latent transforming growth factor beta binding protein 2							64.0	64.0	64.0					14																	74971732		2203	4300	6503	SO:0001819	synonymous_variant	4053	6	121412	40				g.chr14:74971732G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4323C>T	chr14.hg19:g.74971732G>A		0					LTBP2_ENST00000556690.1_Silent_p.G1397G	p.G1441G	NM_000428.2	NP_000419.1	0	1	1	1.986586	Q14767	LTBP2_HUMAN		29	4709	-			Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	1	1	hg19	c.4323C>T	CCDS9831.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.560277	1	0.170000	NM_000428			14	14		437	431	0		1	0		0	0	72	0		9.997387e-01	9.997345e-01	0	0	0	445	0	14	437
LTBP2	4053	broad.mit.edu	37	14	74975656	74975656	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000261978.4	-	23	3790		c.e23-1		LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617																																						ENST00000261978.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.e23-1		latent transforming growth factor beta binding protein 2							57.0	61.0	60.0					14																	74975656		2203	4300	6503	SO:0001630	splice_region_variant	4053	0	0					g.chr14:74975656C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3404-1G>A	chr14.hg19:g.74975656C>T		0					LTBP2_ENST00000556690.1_Splice_Site		NM_000428.2	NP_000419.1	0	1	1	1.986586	Q14767	LTBP2_HUMAN		23	3790	-			Q99907|Q9NS51	Splice_Site	SNP	ENST00000261978.4	1	1	hg19		CCDS9831.1	1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912648	0.72983	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556206	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9123	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LTBP2	74045409	74045409	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.276000	0.78559	2.771000	0.95319	0.561000	0.74099	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_000428	Intron		98	96		336	329	1		1			0	0	114	0		1	0	0	0	0	0	0	98	336
YLPM1	56252	broad.mit.edu	37	14	75279362	75279362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75279362G>A	ENST00000552421.1	+	10	3385	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	YLPM1_ENST00000325680.7_Missense_Mutation_p.M1793I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I			P49750	YLPM1_HUMAN	YLP motif containing 1	1598	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			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)		AGGAGCGAATGCCTCTGCCAG	0.463																																						ENST00000552421.1	1.000000	0.270000	9.100000e-01	4.300000e-01	0.640000	0.664665	0.640000	1.000000																										0				62						c.(3259-3261)atG>atA		YLP motif containing 1							43.0	46.0	45.0					14																	75279362		1995	4181	6176	SO:0001583	missense	56252	0	0					g.chr14:75279362G>A	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.3261G>A	chr14.hg19:g.75279362G>A	ENSP00000447921:p.Met1087Ile	0					YLPM1_ENST00000325680.7_Missense_Mutation_p.M1793I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I	p.M1087I			0	1	1	1.986586	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	10	3385	+			P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	0	1	hg19	c.3261G>A		0	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924446	0.34002	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	4.84	0.62591	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.27053	0.805	0.33071	D	0.535411	B;B	0.17667	0.013;0.023	B;B	0.08055	0.003;0.003	T	0.48658	-0.9016	9	0.39692	T	0.17	0.0452	13.518	0.61551	0.0:0.0:0.7179:0.2821	.	1598;1793	P49750-3;P49750-4	.;.	I	1087;1793;1598;1506;202	.	ENSP00000238571:M1598I	M	+	3	0	0	YLPM1	74349115	74349115	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.581000	0.46077	1.384000	0.46424	0.650000	0.86243	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-9.830915	1	0.170000	NM_019589			6	6		107	106	0		1	1		0	0	25	0		9.653573e-01	9.133811e-01	0	4	0	77	0	6	107
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000552421.1	+	15	4005	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H			P49750	YLPM1_HUMAN	YLP motif containing 1	1805					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)			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)		CTAGATATTCGTTCTTTGCTG	0.378																																						ENST00000552421.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997324	0.990000	1.000000																										0				62						c.(3880-3882)cGt>cAt		YLP motif containing 1							128.0	119.0	122.0					14																	75284986		1924	4155	6079	SO:0001583	missense	56252	0	0					g.chr14:75284986G>A	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.3881G>A	chr14.hg19:g.75284986G>A	ENSP00000447921:p.Arg1294His	0					YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H	p.R1294H			0	1	1	1.986586	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	15	4005	+			P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	1	1	hg19	c.3881G>A		1	.	.	.	.	.	.	.	.	.	.	G	32	5.136174	0.94517	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.34275	1.37;1.37;1.37	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.53498	0.1800	L	0.39898	1.24	0.80722	D	1	P;D	0.76494	0.786;0.999	P;D	0.75020	0.517;0.985	T	0.53753	-0.8394	10	0.62326	D	0.03	-6.6839	19.2226	0.93803	0.0:0.0:1.0:0.0	.	1805;2000	P49750-3;P49750-4	.;.	H	1294;2000;1765;1713;409	ENSP00000447921:R1294H;ENSP00000324463:R2000H;ENSP00000448367:R409H	ENSP00000238571:R1765H	R	+	2	0	0	YLPM1	74354739	74354739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.217440	1	0.170000	NM_019589			10	10		43	43	1		1	1		0	0	15	0		9.978149e-01	9.999951e-01	0	34	0	99	0	10	43
MLH3	27030	broad.mit.edu	37	14	75515131	75515131	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75515131C>A	ENST00000556740.1	-	1	1263	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.A410S|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	410					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)			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)		CTTTTCACAGCTTTTGACTGC	0.348								Mismatch excision repair (MMR)																														ENST00000556740.1	0.640000	0.180000	5.100000e-01	2.600000e-01	0.370000	0.392958	0.370000	0.360000																										0				44						c.(1228-1230)Gct>Tct	Mismatch excision repair (MMR)	mutL homolog 3							52.0	51.0	51.0					14																	75515131		2203	4300	6503	SO:0001583	missense	27030	0	0					g.chr14:75515131C>A	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.1228G>T	chr14.hg19:g.75515131C>A	ENSP00000452316:p.Ala410Ser	0					MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.A410S|MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000555671.1_5'Flank	p.A410S			0	1	1	1.986586	Q9UHC1	MLH3_HUMAN		1	1263	-			P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	1	1	hg19	c.1228G>T	CCDS32123.1	0	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983191	0.02180	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80738	-1.35;-1.36;-1.41;-1.35	5.74	3.6	0.41247	5.74	3.6	0.41247	.	0.363846	0.28803	N	0.014088	T	0.70133	0.3189	L	0.55103	1.725	0.80722	D	1	P;B	0.36990	0.577;0.0	B;B	0.30855	0.121;0.001	T	0.63959	-0.6519	10	0.11485	T	0.65	-9.4372	11.1063	0.48205	0.3113:0.6206:0.0:0.0681	.	410;410	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	410	ENSP00000348020:A410S;ENSP00000238662:A410S;ENSP00000451540:A410S;ENSP00000452316:A410S	ENSP00000238662:A410S	A	-	1	0	0	MLH3	74584884	74584884	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	0.137000	0.15995	0.787000	0.33731	-0.824000	0.03097	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.738427	1	0.170000	NM_014381			9	9		282	276	0		1	1		0	0	53	0		9.938550e-01	7.427436e-02	0	3	0	10	0	9	282
NEK9	91754	broad.mit.edu	37	14	75567812	75567812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	629					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542																																						ENST00000238616.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1885-1887)Ctg>Ttg		NIMA-related kinase 9							45.0	46.0	45.0					14																	75567812		2203	4300	6503	SO:0001819	synonymous_variant	91754	0	0					g.chr14:75567812G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1885C>T	chr14.hg19:g.75567812G>A		0						p.L629L	NM_033116.4	NP_149107.4	0	1	1	1.986586	Q8TD19	NEK9_HUMAN		16	2043	-			Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	1	1	hg19	c.1885C>T	CCDS9839.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.988021	1	0.170000	NM_033116			53	52		189	187	0		1	1		0	0	53	0		1	1	0	36	0	119	0	53	189
TMED10	10972	broad.mit.edu	37	14	75618848	75618848	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						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)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373																																						ENST00000303575.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999057	0.990000	1.000000																										0				9						c.e2-2		transmembrane emp24-like trafficking protein 10 (yeast)							63.0	59.0	60.0					14																	75618848		2203	4300	6503	SO:0001630	splice_region_variant	10972	0	0					g.chr14:75618848T>C	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.226-2A>G	chr14.hg19:g.75618848T>C		0							NM_006827.5	NP_006818.3	0	1	1	1.986586	P49755	TMEDA_HUMAN		2	277	-			B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	1	1	hg19		CCDS9840.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937216	0.73557	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5719	0.76345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TMED10	74688601	74688601	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.655000	0.83696	2.142000	0.66516	0.459000	0.35465	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_006827	Intron		31	31		213	209	0		1	0		0	0	42	0		1	1.737928e-02	0	0	0	2	0	31	213
TMED10	10972	broad.mit.edu	37	14	75643079	75643079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	68	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)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662																																						ENST00000303575.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(202-204)ggC>ggT		transmembrane emp24-like trafficking protein 10 (yeast)							50.0	53.0	52.0					14																	75643079		2203	4300	6503	SO:0001819	synonymous_variant	10972	0	0					g.chr14:75643079G>A	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.204C>T	chr14.hg19:g.75643079G>A		0						p.G68G	NM_006827.5	NP_006818.3	0	1	1	1.986586	P49755	TMEDA_HUMAN		1	255	-			B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Silent	SNP	ENST00000303575.4	1	1	hg19	c.204C>T	CCDS9840.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	1	0	1		2	2	2	0		0	0	71		71	67	1	2.060000	-4.957903	1	0.170000	NM_006827			127	125		405	401	1		1	1		0	0	71	0		1	1	0	282	0	913	0	127	405
BATF	10538	broad.mit.edu	37	14	76012831	76012831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	65	Leucine-zipper. {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)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607																																						ENST00000286639.6	1.000000	0.590000	1	7.500000e-01	0.930000	0.896353	0.930000	1.000000																										0				3						c.(193-195)aaC>aaT		basic leucine zipper transcription factor, ATF-like							69.0	56.0	60.0					14																	76012831		2203	4300	6503	SO:0001819	synonymous_variant	10538	0	0					g.chr14:76012831C>T	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.195C>T	chr14.hg19:g.76012831C>T		0					BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	p.N65N	NM_006399.3	NP_006390.1	0	1	1	1.986586	Q16520	BATF_HUMAN		3	453	+				Silent	SNP	ENST00000286639.6	1	1	hg19	c.195C>T	CCDS9843.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-7.865271	1	0.170000	NM_006399			20	19		230	228	1		1	1		0	0	38	0		9.999957e-01	9.961975e-01	0	23	0	82	0	20	230
FLVCR2	55640	broad.mit.edu	37	14	76108229	76108229	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000238667.4	+	9	1853	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	499					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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453																																						ENST00000238667.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1495-1497)gaA>gaG		feline leukemia virus subgroup C cellular receptor family, member 2							129.0	123.0	125.0					14																	76108229		2203	4300	6503	SO:0001819	synonymous_variant	55640	0	0					g.chr14:76108229A>G	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.1497A>G	chr14.hg19:g.76108229A>G		0					FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron	p.E499E	NM_017791.2	NP_060261.2	0	1	1	1.986586	Q9UPI3	FLVC2_HUMAN		9	1853	+			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	1	1	hg19	c.1497A>G	CCDS9844.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_017791			86	85		380	372	1		1	1		0	0	96	0		1	9.988838e-01	0	11	0	36	0	86	380
TTLL5	23093	broad.mit.edu	37	14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000298832.9	+	3	299	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R|TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	32					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408																																						ENST00000298832.9	0.710000	0.340000	6.200000e-01	4.100000e-01	0.510000	0.522755	0.510000	0.510000																										0				50						c.(94-96)Tgg>Cgg		tubulin tyrosine ligase-like family, member 5							180.0	174.0	176.0					14																	76135778		2203	4300	6503	SO:0001583	missense	23093	0	0					g.chr14:76135778T>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.94T>C	chr14.hg19:g.76135778T>C	ENSP00000298832:p.Trp32Arg	0					TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R	p.W32R	NM_015072.4	NP_055887.3	0	1	1	1.986586	Q6EMB2	TTLL5_HUMAN		3	299	+			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	1	1	hg19	c.94T>C	CCDS32124.1	0	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792195	0.70452	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.10763	2.84;3.06;3.32	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.118493	0.64402	D	0.000006	T	0.30166	0.0756	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.949;0.962	T	0.01386	-1.1368	10	0.54805	T	0.06	.	12.9317	0.58290	0.0:0.0:0.0:1.0	.	32;32;32	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	R	32	ENSP00000450713:W32R;ENSP00000286650:W32R;ENSP00000298832:W32R	ENSP00000286650:W32R	W	+	1	0	0	TTLL5	75205531	75205531	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.832000	0.62759	2.039000	0.60335	0.383000	0.25322	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-4.664048	1	0.170000	NM_015072			26	26		572	563	0		1	1		0	0	123	0		9.999999e-01	2.601333e-01	0	2	0	20	0	26	572
TTLL5	23093	broad.mit.edu	37	14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000298832.9	+	19	1865	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	554	Poly-Arg.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507																																						ENST00000298832.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1660-1662)Cgt>Tgt		tubulin tyrosine ligase-like family, member 5							125.0	112.0	116.0					14																	76231067		2203	4300	6503	SO:0001583	missense	23093	4	121412	38				g.chr14:76231067C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1660C>T	chr14.hg19:g.76231067C>T	ENSP00000298832:p.Arg554Cys	0					TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C	p.R554C	NM_015072.4	NP_055887.3	0	1	1	1.986586	Q6EMB2	TTLL5_HUMAN		19	1865	+			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	1	1	hg19	c.1660C>T	CCDS32124.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342561	0.82022	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.57;3.67;1.57;1.44	5.29	5.29	0.74685	5.29	5.29	0.74685	.	1.233700	0.05476	N	0.553897	T	0.46619	0.1402	L	0.43152	1.355	0.39164	D	0.962464	D;D;D	0.76494	0.998;0.999;0.996	P;P;P	0.56916	0.736;0.809;0.72	T	0.11348	-1.0591	10	0.72032	D	0.01	.	12.7236	0.57156	0.1642:0.8358:0.0:0.0	.	568;105;554	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	C	241;568;554;105;105;63	ENSP00000450713:R568C;ENSP00000298832:R554C;ENSP00000452524:R105C;ENSP00000451946:R63C	ENSP00000298832:R554C	R	+	1	0	0	TTLL5	75300820	75300820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.259000	0.43259	2.465000	0.83290	0.579000	0.79373	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_015072			69	69		310	303	1		1	1		0	0	92	0		1	9.849818e-01	0	3	0	29	0	69	310
TTLL5	23093	broad.mit.edu	37	14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000298832.9	+	25	2783	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	860					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338																																						ENST00000298832.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2578-2580)Gaa>Taa		tubulin tyrosine ligase-like family, member 5							98.0	96.0	97.0					14																	76248892		2203	4300	6503	SO:0001587	stop_gained	23093	0	0					g.chr14:76248892G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2578G>T	chr14.hg19:g.76248892G>T	ENSP00000298832:p.Glu860*	0					TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*	p.E860*	NM_015072.4	NP_055887.3	0	1	1	1.986586	Q6EMB2	TTLL5_HUMAN		25	2783	+			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Nonsense_Mutation	SNP	ENST00000298832.9	0	1	hg19	c.2578G>T	CCDS32124.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.315407	0.97467	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	3.520550	0.00496	N	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.6339	0.76933	0.0:0.0:1.0:0.0	.	.	.	.	X	547;874;860;411;411;369	.	ENSP00000298832:E860X	E	+	1	0	0	TTLL5	75318645	75318645	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.372000	0.59530	2.770000	0.95276	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_015072			43	43		192	190	1		1	1		0	0	45	0		1	9.938140e-01	0	5	0	33	0	43	192
ESRRB	2103	broad.mit.edu	37	14	76905684	76905684	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	ENST00000509242.1	+	0	86				ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_De_novo_Start_InFrame|ESRRB_ENST00000556177.1_De_novo_Start_InFrame	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta						gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTGTCCACAGGCTGCTGAACA	0.647																																						ENST00000509242.1	0.700000	0.360000	6.200000e-01	4.400000e-01	0.520000	0.533147	0.520000	0.520000																										0				24								estrogen-related receptor beta							71.0	75.0	74.0					14																	76905684		2177	4259	6436			2103	0	0					g.chr14:76905684G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718			chr14.hg19:g.76905684G>A		0					ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000380887.2_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_De_novo_Start_InFrame		NM_004452.3	NP_004443.3	0	1	1	1.986586	O95718	ERR2_HUMAN		0	86	+			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Translation_Start_Site	SNP	ENST00000509242.1	0	1	hg19		CCDS9850.2	0	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419138	0.62622	.	.	ENSG00000119715	ENST00000512784	D	0.92199	-2.99	4.89	4.89	0.63831	4.89	4.89	0.63831	.	.	.	.	.	D	0.94725	0.8298	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94249	0.7492	5	.	.	.	.	18.0685	0.89398	0.0:0.0:1.0:0.0	.	.	.	.	I	1	ENSP00000424992:M1I	.	M	+	3	0	0	ESRRB	75975437	75975437	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.778000	0.99011	2.272000	0.75746	0.655000	0.94253	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1	0	0	0		2	2	2	0		0	0	157		157	155	1	2.060000	-20.000000	1	0.170000				34	33		728	715	0		1			0	0	157	0		1	0	0	0	0	0	0	34	728
ESRRB	2103	broad.mit.edu	37	14	76905708	76905708	+	Silent	SNP	C	C	T	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000509242.1	+	3	110	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	4					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657																																						ENST00000509242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(10-12)gaC>gaT		estrogen-related receptor beta							62.0	67.0	65.0					14																	76905708		2195	4287	6482	SO:0001819	synonymous_variant	2103	0	0					g.chr14:76905708C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.12C>T	chr14.hg19:g.76905708C>T		0					ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000380887.2_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.D4D	p.D4D	NM_004452.3	NP_004443.3	0	1	1	1.986586	O95718	ERR2_HUMAN		3	110	+			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	1	1	hg19	c.12C>T	CCDS9850.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1	1	0	0		2	2	2	0		0	0	154		154	151	1	2.060000	-20.000000	1	0.170000				117	117		614	601	0		1			0	0	154	0		1	0	0	0	0	0	0	117	614
CIPC	85457	broad.mit.edu	37	14	77576198	77576198	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000361786.2	+	3	497	c.180C>T	c.(178-180)tcC>tcT	p.S60S	KIAA1737_ENST00000555611.1_Silent_p.S60S|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		60					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557																																						ENST00000361786.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(178-180)tcC>tcT									116.0	110.0	112.0					14																	77576198		2203	4300	6503	SO:0001819	synonymous_variant	0	1	121412	33				g.chr14:77576198C>T																												ENST00000361786.2:c.180C>T	chr14.hg19:g.77576198C>T		0					RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S|KIAA1737_ENST00000555437.1_Intron	p.S60S	NM_033426.2	NP_219494.2	0	1	1	1.986586	Q9C0C6	CIPC_HUMAN	Kidney(204;0.164)	3	497	+			B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	1	1	hg19	c.180C>T	CCDS9855.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-2.884238	1	0.170000				84	83		349	341	1		1	1		0	0	83	0		1	9.994070e-01	0	10	0	38	0	84	349
CIPC	85457	broad.mit.edu	37	14	77580103	77580103	+	Silent	SNP	G	G	A	rs546253011	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		214					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.002					ENST00000361786.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999770	0.990000	1.000000																										0				9						c.(640-642)acG>acA									46.0	44.0	45.0					14																	77580103		2203	4300	6503	SO:0001819	synonymous_variant	0	8	121412	37				g.chr14:77580103G>A																												ENST00000361786.2:c.642G>A	chr14.hg19:g.77580103G>A		0					RP11-463C8.4_ENST00000557752.1_Intron	p.T214T	NM_033426.2	NP_219494.2	0	1	1	1.986586	Q9C0C6	CIPC_HUMAN	Kidney(204;0.164)	4	959	+			B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	1	1	hg19	c.642G>A	CCDS9855.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				36	36		233	230	1		1	1		0	0	53	0		1	9.997930e-01	0	15	0	71	0	36	233
ZDHHC22	283576	broad.mit.edu	37	14	77605761	77605761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	107					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627																																						ENST00000319374.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				3						c.(319-321)caC>caT		zinc finger, DHHC-type containing 22							33.0	39.0	37.0					14																	77605761		2182	4273	6455	SO:0001819	synonymous_variant	283576	0	0					g.chr14:77605761G>A	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.321C>T	chr14.hg19:g.77605761G>A		0					RP11-463C8.4_ENST00000557752.1_Intron|AC007375.1_ENST00000600936.1_5'Flank	p.H107H	NM_174976.2	NP_777636.2	0	1	1	1.986586	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	2	523	-			A6NH02|B7Z2L5|Q149P4	Silent	SNP	ENST00000319374.4	1	1	hg19	c.321C>T	CCDS45140.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_174976			21	21		72	71	1		1			0	0	12	0		9.999990e-01	0	0	0	0	0	0	21	72
ZDHHC22	283576	broad.mit.edu	37	14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	22					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGCACGAAGGTCACCAGGGAG	0.677											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319374.4	1.000000	0.680000	1	9.900000e-01	0.990000	0.973512	0.990000	1.000000																										0				3						c.(64-66)Acc>Gcc		zinc finger, DHHC-type containing 22							10.0	13.0	12.0					14																	77606018		2105	4212	6317	SO:0001583	missense	283576	0	0					g.chr14:77606018T>C	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.64A>G	chr14.hg19:g.77606018T>C	ENSP00000318222:p.Thr22Ala	0		OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1177	RP11-463C8.4_ENST00000557752.1_Intron|AC007375.1_ENST00000600936.1_5'Flank	p.T22A	NM_174976.2	NP_777636.2	0	1	1	1.986586	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	2	266	-			A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	0	1	hg19	c.64A>G	CCDS45140.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.300149	0.95574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.55930	0.49	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.29908	0.895	0.80722	D	1	P	0.46656	0.882	P	0.48571	0.582	T	0.32348	-0.9910	10	0.09843	T	0.71	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	22	Q8N966	ZDH22_HUMAN	A	22	ENSP00000318222:T22A	ENSP00000318222:T22A	T	-	1	0	0	ZDHHC22	76675771	76675771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.163000	0.67991	0.459000	0.35465	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-14.185130	1	0.170000	NM_174976			7	7		46	43	1		1			0	0	10	0		9.791295e-01	0	0	0	0	0	0	7	46
POMT2	29954	broad.mit.edu	37	14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L	GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	2						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			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)		CGTGGCCGGCGGCATCTTCCC	0.746																																						ENST00000261534.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(4-6)cCg>cTg		protein-O-mannosyltransferase 2							9.0	10.0	10.0					14																	77787020		1496	3380	4876	SO:0001583	missense	29954	0	0					g.chr14:77787020G>A	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.5C>T	chr14.hg19:g.77787020G>A	ENSP00000261534:p.Pro2Leu	0					GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000393734.1_5'Flank	p.P2L	NM_013382.5	NP_037514.2	0	1	1	1.986586	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	1	207	-			Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	1	1	hg19	c.5C>T	CCDS9857.1	1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139893	0.37728	.	.	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	4.99	1.9	0.25705	4.99	1.9	0.25705	.	0.388197	0.26275	N	0.025302	T	0.52805	0.1757	N	0.08118	0	0.35751	D	0.819457	B	0.19073	0.033	B	0.09377	0.004	T	0.54576	-0.8273	10	0.72032	D	0.01	-11.0857	4.1682	0.10317	0.0892:0.1589:0.5879:0.164	.	2	Q9UKY4	POMT2_HUMAN	L	2	ENSP00000261534:P2L	ENSP00000261534:P2L	P	-	2	0	0	POMT2	76856773	76856773	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	3.318000	0.51975	1.051000	0.40369	0.655000	0.94253	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_013382			30	29		109	109	0		1	0		0	0	20	0		1	3.046709e-01	0	0	0	5	0	30	109
TMED8	283578	broad.mit.edu	37	14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				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)		TGTTCAGACTGGATCATAACG	0.448																																						ENST00000216468.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(376-378)Cag>Tag		transmembrane emp24 protein transport domain containing 8							156.0	150.0	152.0					14																	77810118		2203	4300	6503	SO:0001587	stop_gained	283578	0	0					g.chr14:77810118G>A	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.376C>T	chr14.hg19:g.77810118G>A	ENSP00000216468:p.Gln126*	0						p.Q126*	NM_213601.1	NP_998766.1	0	1	1	1.986586	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	4	431	-			B3KTI6|Q3MJB0|Q9P1V9	Nonsense_Mutation	SNP	ENST00000216468.7	0	1	hg19	c.376C>T	CCDS32125.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000100580	ENST00000216468	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000216468:Q126X	Q	-	1	0	0	TMED8	76879871	76879871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.359000	0.73060	2.833000	0.97629	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	1	0	1		19	2	2	1		1	1	128		128	127	1	2.060000	-2.624738	1	0.170000	NM_213601			120	119		602	591	1		1	0		1	0	128	0		1	7.388947e-01	0	1	0	14	0	120	602
TMED8	283578	broad.mit.edu	37	14	77812773	77812773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	82					transport (GO:0006810)	integral component of membrane (GO:0016021)				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)		CAGTTGCTTTCCGCAGATCTT	0.517																																						ENST00000216468.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(244-246)cgG>cgA		transmembrane emp24 protein transport domain containing 8							107.0	107.0	107.0					14																	77812773		2203	4300	6503	SO:0001819	synonymous_variant	283578	0	0					g.chr14:77812773C>T	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.246G>A	chr14.hg19:g.77812773C>T		0						p.R82R	NM_213601.1	NP_998766.1	0	1	1	1.986586	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	3	301	-			B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	1	1	hg19	c.246G>A	CCDS32125.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_213601			70	67		371	367	1		1	1		0	0	79	0		1	8.661860e-01	0	4	0	17	0	70	371
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	rs201324121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H|ISM2_ENST00000493585.1_3'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													C|||	0	0.0	0.0	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					ENST00000342219.4	0.740000	0.210000	5.900000e-01	3.100000e-01	0.430000	0.453765	0.430000	0.410000																										0				21						c.(1384-1386)cGc>cAc		isthmin 2							30.0	32.0	32.0					14																	77942269		2203	4298	6501	SO:0001583	missense	145501	4	121112	31				g.chr14:77942269C>T	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.1385G>A	chr14.hg19:g.77942269C>T	ENSP00000341490:p.Arg462His	0					ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H	p.R462H	NM_199296.2	NP_954993.1	0	1	1	1.986586	Q6H9L7	ISM2_HUMAN		7	1441	-			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	1	1	hg19	c.1385G>A	CCDS9864.1	0	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	0	ISM2	77012022	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	0	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-10.662100	1	0.170000	NM_182509			9	8		242	239	0		1	0		0	0	36	0		9.940337e-01	4.974122e-03	0	0	0	3	0	9	242
ISM2	145501	broad.mit.edu	37	14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000342219.4	-	7	1375	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N|ISM2_ENST00000493585.1_3'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	440	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652																																						ENST00000342219.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1318-1320)aGc>aAc		isthmin 2							39.0	40.0	40.0					14																	77942335		2203	4300	6503	SO:0001583	missense	145501	0	0					g.chr14:77942335C>T	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.1319G>A	chr14.hg19:g.77942335C>T	ENSP00000341490:p.Ser440Asn	0					ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N	p.S440N	NM_199296.2	NP_954993.1	0	1	1	1.986586	Q6H9L7	ISM2_HUMAN		7	1375	-			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	1	1	hg19	c.1319G>A	CCDS9864.1	1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394399	0.11638	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24538	1.85;1.87;1.86;2.18	4.98	4.09	0.47781	4.98	4.09	0.47781	AMOP (3);	0.250260	0.44097	D	0.000485	T	0.18800	0.0451	L	0.28115	0.83	0.18873	N	0.999986	B;B	0.30068	0.225;0.267	B;B	0.28385	0.032;0.089	T	0.12293	-1.0553	10	0.41790	T	0.15	-4.4567	13.3096	0.60371	0.0:0.9229:0.0:0.0771	.	359;440	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	440;359;359;352	ENSP00000341490:S440N;ENSP00000416773:S359N;ENSP00000395387:S359N;ENSP00000377289:S352N	ENSP00000341490:S440N	S	-	2	0	0	ISM2	77012088	77012088	0.996000	0.38824	0.001000	0.08648	0.001000	0.01503	3.227000	0.51262	1.098000	0.41479	0.561000	0.74099	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_182509			69	69		256	252	1		1			0	0	53	0		1	0	0	0	0	0	0	69	256
SPTLC2	9517	broad.mit.edu	37	14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	80					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGGTGAGTACGCCATACCCC	0.398																																						ENST00000216484.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(238-240)Gta>Ata		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)						130.0	111.0	117.0					14																	78063618		2203	4300	6503	SO:0001583	missense	9517	4	121410	38				g.chr14:78063618C>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.238G>A	chr14.hg19:g.78063618C>T	ENSP00000216484:p.Val80Ile	0						p.V80I	NM_004863.3	NP_004854.1	0	1	1	1.986586	O15270	SPTC2_HUMAN	Kidney(204;0.164)	2	431	-			Q16685	Missense_Mutation	SNP	ENST00000216484.2	1	1	hg19	c.238G>A	CCDS9865.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.663|4.663	0.123259|0.123259	0.08931|0.08931	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69806	.|-0.43	4.88|4.88	4.88|4.88	0.63580|0.63580	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.127042	.|0.53938	.|D	.|0.000048	T|T	0.29817|0.29817	0.0745|0.0745	N|N	0.00926|0.00926	-1.1|-1.1	0.42181|0.42181	D|D	0.991685|0.991685	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.02654	.|T	.|1	-16.3828|-16.3828	9.2779|9.2779	0.37711|0.37711	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|80	.|O15270	.|SPTC2_HUMAN	H|I	16|80	.|ENSP00000216484:V80I	.|ENSP00000216484:V80I	R|V	-|-	2|1	0|0	0|0	SPTLC2|SPTLC2	77133371|77133371	77133371|77133371	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.994000|0.994000	0.84299|0.84299	3.820000|3.820000	0.55693|0.55693	2.412000|2.412000	0.81896|0.81896	0.591000|0.591000	0.81541|0.81541	CGT|GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-4.307671	1	0.170000	NM_004863			58	57		193	189	1		1	1		0	0	42	0		1	1	0	17	0	82	0	58	193
ALKBH1	8846	broad.mit.edu	37	14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	205					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458																																						ENST00000216489.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(613-615)Gct>Act		alkB, alkylation repair homolog 1 (E. coli)							89.0	89.0	89.0					14																	78142126		2203	4300	6503	SO:0001583	missense	8846	0	0					g.chr14:78142126C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.613G>A	chr14.hg19:g.78142126C>T	ENSP00000216489:p.Ala205Thr	0						p.A205T	NM_006020.2	NP_006011.2	0	1	1	1.986586	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	5	628	-			Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	1	1	hg19	c.613G>A	CCDS32127.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834784	0.32421	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	1.31	0.21738	6.17	1.31	0.21738	.	0.172481	0.51477	N	0.000096	T	0.10380	0.0254	L	0.49778	1.585	0.29447	N	0.858722	P	0.37663	0.604	B	0.32465	0.146	T	0.24012	-1.0172	10	0.15499	T	0.54	-20.6112	10.5931	0.45321	0.0:0.6266:0.0:0.3734	.	205	Q13686	ALKB1_HUMAN	T	205	ENSP00000216489:A205T	ENSP00000216489:A205T	A	-	1	0	0	ALKBH1	77211879	77211879	0.005000	0.15991	0.031000	0.17742	0.888000	0.51559	0.135000	0.15952	-0.021000	0.14009	-0.123000	0.14984	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.166768	1	0.170000	NM_006020			58	56		293	287	1		1	1		0	0	64	0		1	9.997712e-01	0	18	0	47	0	58	293
SNW1	22938	broad.mit.edu	37	14	78189607	78189607	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SNW1_ENST00000555761.1_Silent_p.A349A|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.A187A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	349					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413																																						ENST00000261531.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1045-1047)gcA>gcG		SNW domain containing 1							136.0	109.0	118.0					14																	78189607		2203	4300	6503	SO:0001819	synonymous_variant	22938	0	0					g.chr14:78189607T>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1047A>G	chr14.hg19:g.78189607T>C		0					SNW1_ENST00000555761.1_Silent_p.A349A|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.A187A	p.A349A	NM_012245.2	NP_036377.1	0	1	1	1.986586	Q13573	SNW1_HUMAN	Kidney(204;0.164)	11	1109	-			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	1	1	hg19	c.1047A>G	CCDS9867.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	1	0	1		2	2	2	0		0	0	97		97	94	1	2.060000	-20.000000	1	0.170000	NM_012245			91	87		399	377	1		1	1		0	0	97	0		1	1	0	104	0	299	0	91	399
SNW1	22938	broad.mit.edu	37	14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	20					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453																																						ENST00000261531.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999719	0.990000	1.000000																										0				24						c.(58-60)gCt>gAt		SNW domain containing 1							69.0	60.0	63.0					14																	78221419		2203	4300	6503	SO:0001583	missense	22938	0	0					g.chr14:78221419G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.59C>A	chr14.hg19:g.78221419G>T	ENSP00000261531:p.Ala20Asp	0					SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	p.A20D	NM_012245.2	NP_036377.1	0	1	1	1.986586	Q13573	SNW1_HUMAN	Kidney(204;0.164)	2	121	-			A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	1	1	hg19	c.59C>A	CCDS9867.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671489	0.47781	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.145914	0.64402	D	0.000009	T	0.41373	0.1156	N	0.26042	0.785	0.58432	D	0.999999	B;B	0.24186	0.001;0.099	B;B	0.19946	0.002;0.027	T	0.27502	-1.0072	9	0.14252	T	0.57	.	11.4594	0.50202	0.1068:0.0:0.8932:0.0	.	20;20	G3V3A4;Q13573	.;SNW1_HUMAN	D	20	.	ENSP00000261531:A20D	A	-	2	0	0	SNW1	77291172	77291172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.028000	0.70889	2.873000	0.98535	0.561000	0.74099	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000	NM_012245			25	25		142	140	1		1	1		0	0	32	0		9.999999e-01	9.999999e-01	0	37	0	126	0	25	142
ADCK1	57143	broad.mit.edu	37	14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	217	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502																																						ENST00000238561.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(628-630)atG>atA		aarF domain containing kinase 1							179.0	155.0	163.0					14																	78365490		2203	4300	6503	SO:0001583	missense	57143	0	0					g.chr14:78365490G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.630G>A	chr14.hg19:g.78365490G>A	ENSP00000238561:p.Met210Ile	0					ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	p.M210I	NM_020421.3	NP_065154.2	0	1	1	1.986586	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	6	729	+			B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	1	1	hg19	c.630G>A	CCDS9869.1	1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553053	0.45487	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54071	0.59;0.59;0.59	5.53	3.64	0.41730	5.53	3.64	0.41730	.	0.118251	0.85682	N	0.000000	T	0.40791	0.1131	L	0.31294	0.92	0.80722	D	1	B;B	0.23806	0.091;0.05	B;B	0.29663	0.105;0.037	T	0.27773	-1.0064	10	0.36615	T	0.2	-51.955	10.9727	0.47448	0.0702:0.13:0.7999:0.0	.	142;210	Q9UIE6;Q86TW2-2	.;.	I	210;210;142	ENSP00000238561:M210I;ENSP00000451549:M210I;ENSP00000339663:M142I	ENSP00000238561:M210I	M	+	3	0	0	ADCK1	77435243	77435243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.677000	0.74503	1.335000	0.45486	0.591000	0.81541	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-20.000000	1	0.170000	NM_020421			127	121		520	507	1		1	1		0	0	142	0		1	9.096124e-01	0	3	0	16	0	127	520
ADCK1	57143	broad.mit.edu	37	14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	299	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572																																						ENST00000238561.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(874-876)Ggc>Tgc		aarF domain containing kinase 1							98.0	89.0	92.0					14																	78390815		2203	4300	6503	SO:0001583	missense	57143	0	0					g.chr14:78390815G>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.874G>T	chr14.hg19:g.78390815G>T	ENSP00000238561:p.Gly292Cys	0					ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C|ADCK1_ENST00000556560.1_3'UTR	p.G292C	NM_020421.3	NP_065154.2	0	1	1	1.986586	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	8	973	+			B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	1	1	hg19	c.874G>T	CCDS9869.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986766	0.93106	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.81739	1.57;-1.53;1.57	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85455	0.1163	10	0.36615	T	0.2	-19.8807	19.6876	0.95986	0.0:0.0:1.0:0.0	.	224;292	Q9UIE6;Q86TW2-2	.;.	C	292;253;224	ENSP00000238561:G292C;ENSP00000451549:G253C;ENSP00000339663:G224C	ENSP00000238561:G292C	G	+	1	0	0	ADCK1	77460568	77460568	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.665000	0.98609	2.659000	0.90383	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.006789	1	0.170000	NM_020421			67	66		305	296	1		1	1		0	0	69	0		1	8.350407e-01	0	6	0	10	0	67	305
ADCK1	57143	broad.mit.edu	37	14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	378	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582																																						ENST00000238561.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1111-1113)Ggg>Agg		aarF domain containing kinase 1							149.0	152.0	151.0					14																	78392209		2203	4300	6503	SO:0001583	missense	57143	5	121412	43				g.chr14:78392209G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1111G>A	chr14.hg19:g.78392209G>A	ENSP00000238561:p.Gly371Arg	0					ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	p.G371R	NM_020421.3	NP_065154.2	0	1	1	1.986586	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	9	1210	+			B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	1	1	hg19	c.1111G>A	CCDS9869.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966020	0.92855	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.1	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.049936	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86805	2.84	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.992	P;P;D	0.66979	0.823;0.868;0.948	D	0.85534	0.1211	10	0.49607	T	0.09	-20.5345	18.8748	0.92331	0.0:0.0:1.0:0.0	.	378;303;371	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	371;303	ENSP00000238561:G371R;ENSP00000339663:G303R	ENSP00000238561:G371R	G	+	1	0	0	ADCK1	77461962	77461962	1.000000	0.71417	0.385000	0.26158	0.882000	0.50991	9.818000	0.99354	2.461000	0.83175	0.643000	0.83706	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1		2	2	2	0		0	0	188		188	187	1	2.060000	-2.684782	1	0.170000	NM_020421			158	154		735	719	1		1	1		0	0	188	0		1	9.633347e-01	0	3	0	24	0	158	735
NRXN3	9369	broad.mit.edu	37	14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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)			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)		AATCTATGGCGAAGTTGTGTT	0.468																																						ENST00000554719.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(184-186)Gaa>Aaa		neurexin 3							105.0	101.0	102.0					14																	79175641		2203	4300	6503	SO:0001583	missense	9369	2	121410	36				g.chr14:79175641G>A	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.184G>A	chr14.hg19:g.79175641G>A	ENSP00000451648:p.Glu62Lys	0					NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	p.E62K	NM_004796.4	NP_004787.2	0	1	1	1.986586	Q9HDB5	NRX3B_HUMAN		4	675	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	1	1	hg19	c.184G>A	CCDS9870.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118189	0.37339	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78595	-1.19;-0.25;-0.25;-1.19	5.38	5.38	0.77491	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.126176	0.56097	D	0.000030	T	0.57330	0.2046	N	0.08118	0	0.46849	D	0.999226	P;P	0.42993	0.797;0.622	B;B	0.32090	0.085;0.14	T	0.61302	-0.7090	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	435;62	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	435;433;6;62;62;6	ENSP00000451947:E6K;ENSP00000451648:E62K;ENSP00000338349:E62K;ENSP00000450462:E6K	.	E	+	1	0	0	NRXN3	78245394	78245394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	0	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_001105250			78	77		325	322	1		1	0		0	0	85	0		1	3.843581e-02	0	0	0	2	0	78	325
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	166					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)			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)		AACAGTGACCGCCCCCTGAAT	0.423																																						ENST00000554719.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(1720-1722)cGc>cAc		neurexin 3		G	HIS/ARG	0,4406		0,0,2203	102.0	87.0	92.0		1721	6.0	1.0	14	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	574/1062	79433613	1,13005	2203	4300	6503	SO:0001583	missense	9369	13	121412	41				g.chr14:79433613G>A	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.1721G>A	chr14.hg19:g.79433613G>A	ENSP00000451648:p.Arg574His	0					NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	p.R574H	NM_004796.4	NP_004787.2	0	1	1	1.986586	Q9HDB5	NRX3B_HUMAN		10	2212	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	1	1	hg19	c.1721G>A	CCDS9870.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288622	0.80914	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78126	-1.15;-1.15	6.04	6.04	0.98038	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.233245	0.41938	D	0.000781	D	0.85639	0.5743	.	.	.	0.50813	D	0.999897	D;B	0.65815	0.995;0.137	P;B	0.55871	0.786;0.027	D	0.83950	0.0316	8	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	947;574	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	947;936;574;574	ENSP00000451648:R574H;ENSP00000338349:R574H	.	R	+	2	0	0	NRXN3	78503366	78503366	0.998000	0.40836	0.992000	0.48379	0.685000	0.39939	3.259000	0.51515	2.873000	0.98535	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.449965	1	0.170000	NM_001105250			58	56		242	235	1		1	0		0	0	46	0		1	3.333346e-01	0	0	0	6	0	58	242
NRXN3	9369	broad.mit.edu	37	14	79454462	79454462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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)			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)		TGACCTCTTATTCTGGAAACC	0.438																																						ENST00000554719.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(2119-2121)taT>taC		neurexin 3							167.0	156.0	160.0					14																	79454462		2203	4300	6503	SO:0001819	synonymous_variant	9369	0	0					g.chr14:79454462T>C	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.2121T>C	chr14.hg19:g.79454462T>C		0					NRXN3_ENST00000335750.5_Silent_p.Y707Y	p.Y707Y	NM_004796.4	NP_004787.2	0	1	1	1.986586	Q9HDB5	NRX3B_HUMAN		12	2612	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	1	1	hg19	c.2121T>C	CCDS9870.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	0	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_001105250			91	89		461	455	1		1	0		0	0	107	0		1	2.782711e-02	0	0	0	2	0	91	461
TSHR	7253	broad.mit.edu	37	14	81554371	81554371	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000298171.2_Splice_Site_p.L131I|TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000554263.1_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	131					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)			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)	CCTAAAGTTCCTGTAAGTATT	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom	yes		yes	Dom	yes		14	14q31	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E	E		thyroid  adenoma	toxic thyroid adenoma		0				337						c.(391-393)Ctt>Att		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						96.0	83.0	88.0					14																	81554371		2203	4300	6503	SO:0001630	splice_region_variant	7253	0	0					g.chr14:81554371C>A	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.392+1C>A	chr14.hg19:g.81554371C>A		0					TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000554263.1_Splice_Site_p.L131I	p.L131I			0	1	1	1.986586	P16473	TSHR_HUMAN		5	713	+			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Splice_Site	SNP	ENST00000541158.2	1	0	hg19	c.391C>A	CCDS9872.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412972	0.83449	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.90145	3.09	0.58432	D	0.999999	D;B;D;P	0.67145	0.985;0.321;0.996;0.637	D;P;D;P	0.75484	0.986;0.631;0.973;0.546	D	0.96868	0.9637	10	0.46703	T	0.11	.	15.6391	0.76981	0.0:1.0:0.0:0.0	.	131;131;131;131	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	I	131	ENSP00000441235:L131I;ENSP00000340113:L131I;ENSP00000298171:L131I;ENSP00000451202:L131I;ENSP00000450549:L131I	ENSP00000298171:L131I	L	+	1	0	0	TSHR	80624124	80624124	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.601000	0.61090	2.764000	0.94973	0.655000	0.94253	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.346851	1	0.170000	NM_000369	Missense_Mutation		55	55		225	221	1		1	0		0	0	64	0		1	0	0	0	0	1	0	55	225
TSHR	7253	broad.mit.edu	37	14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	346					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)			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)	TTCCAGGATACTCATAACAAC	0.438			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom	yes		yes	Dom	yes		14	14q31	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E	E		thyroid  adenoma	toxic thyroid adenoma		0				337						c.(1036-1038)aCt>aTt		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						224.0	203.0	210.0					14																	81609439		2203	4300	6503	SO:0001583	missense	7253	0	0					g.chr14:81609439C>T	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.1037C>T	chr14.hg19:g.81609439C>T	ENSP00000441235:p.Thr346Ile	0					TSHR_ENST00000298171.2_Missense_Mutation_p.T346I|RP11-114N19.3_ENST00000557775.1_RNA	p.T346I			0	1	1	1.986586	P16473	TSHR_HUMAN		11	1359	+			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	1	1	hg19	c.1037C>T	CCDS9872.1	1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404780	0.01155	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75154	-0.91;-0.91	5.78	-1.26	0.09376	5.78	-1.26	0.09376	.	0.851176	0.10874	N	0.624546	T	0.50871	0.1641	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25537	-1.0129	10	0.18710	T	0.47	.	2.0865	0.03647	0.1153:0.3039:0.1487:0.4321	.	346	F5GYU5	.	I	346	ENSP00000441235:T346I;ENSP00000298171:T346I	ENSP00000298171:T346I	T	+	2	0	0	TSHR	80679192	80679192	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.914000	0.28624	-0.070000	0.12908	0.655000	0.94253	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_000369			86	84		409	398	1		1	0		0	0	109	0		1	3.093258e-02	0	0	0	2	0	86	409
TSHR	7253	broad.mit.edu	37	14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A	rs201463943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	487					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)			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)	CCATGCCATCGACTGGCAGAC	0.552			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom	yes		yes	Dom	yes		14	14q31	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E	E		thyroid  adenoma	toxic thyroid adenoma		0				337						c.(1459-1461)Gac>Aac		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)	G	ASN/ASP	0,4406		0,0,2203	548.0	397.0	448.0		1459	5.6	1.0	14		448	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	487/765	81609861	1,13005	2203	4300	6503	SO:0001583	missense	7253	5	121412	36				g.chr14:81609861G>A	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.1459G>A	chr14.hg19:g.81609861G>A	ENSP00000441235:p.Asp487Asn	0					TSHR_ENST00000298171.2_Missense_Mutation_p.D487N|RP11-114N19.3_ENST00000557775.1_RNA	p.D487N			0	1	1	1.986586	P16473	TSHR_HUMAN		11	1781	+			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	1	1	hg19	c.1459G>A	CCDS9872.1	1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453515	0.63290	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85484	-1.99;-1.99	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.084418	0.85682	D	0.000000	D	0.84147	0.5408	M	0.74881	2.28	0.58432	D	0.999999	B	0.34161	0.439	B	0.32149	0.141	D	0.84814	0.0792	10	0.66056	D	0.02	.	12.9763	0.58538	0.074:0.0:0.926:0.0	.	487	F5GYU5	.	N	487;134;487	ENSP00000441235:D487N;ENSP00000298171:D487N	ENSP00000298171:D487N	D	+	1	0	0	TSHR	80679614	80679614	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	8.061000	0.89467	2.664000	0.90586	0.561000	0.74099	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_000369			85	85		297	289	1		1	0		0	0	72	0		1	5.060877e-02	0	0	0	2	0	85	297
STON2	85439	broad.mit.edu	37	14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000267540.2	-	2	379	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000555447.1_Missense_Mutation_p.S60Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	60					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)				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)		ATGGTCTTGAGAGCCTCCATC	0.602																																						ENST00000267540.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.993286	0.990000	1.000000																										0				34						c.(178-180)tCt>tAt		stonin 2							79.0	72.0	74.0					14																	81862432		2203	4300	6503	SO:0001583	missense	85439	0	0					g.chr14:81862432G>T	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.179C>A	chr14.hg19:g.81862432G>T	ENSP00000267540:p.Ser60Tyr	0					STON2_ENST00000555447.1_Missense_Mutation_p.S60Y	p.S60Y	NM_033104.3	NP_149095.2	0	1	1	1.986586	Q8WXE9	STON2_HUMAN		2	379	-			G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	1	1	hg19	c.179C>A	CCDS9875.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108371	0.37242	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	5.82	5.82	0.92795	Stonin-2, N-terminal (1);	0.399278	0.26126	N	0.026196	T	0.80768	0.4686	L	0.56769	1.78	0.30386	N	0.781489	B;P;B	0.35155	0.213;0.487;0.178	B;B;B	0.37650	0.09;0.255;0.054	T	0.81035	-0.1115	10	0.51188	T	0.08	-16.2854	11.0189	0.47707	0.0841:0.0:0.9159:0.0	.	60;60;60	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	60;72;60	ENSP00000450857:S60Y;ENSP00000267540:S60Y	ENSP00000267540:S60Y	S	-	2	0	0	STON2	80932185	80932185	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	1.966000	0.40481	2.751000	0.94390	0.655000	0.94253	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.318795	1	0.170000	NM_033104			35	35		293	290	1		1	0		0	0	51	0		1	0	0	0	0	1	0	35	293
FLRT2	23768	broad.mit.edu	37	14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	236					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)			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)		AAGGAATTTTCAATTGTACGT	0.517																																						ENST00000330753.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(706-708)tCa>tTa		fibronectin leucine rich transmembrane protein 2							86.0	86.0	86.0					14																	86088565		2203	4300	6503	SO:0001583	missense	23768	0	0					g.chr14:86088565C>T	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.707C>T	chr14.hg19:g.86088565C>T	ENSP00000332879:p.Ser236Leu	0					FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	p.S236L	NM_013231.4	NP_037363.1	0	1	1	1.986586	O43155	FLRT2_HUMAN		2	1474	+			A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	1	1	hg19	c.707C>T	CCDS9877.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989031	0.74589	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.057139	0.64402	D	0.000001	T	0.44623	0.1302	N	0.21097	0.63	0.80722	D	1	P	0.48089	0.905	B	0.43728	0.429	T	0.21484	-1.0244	10	0.19590	T	0.45	-14.9232	20.0026	0.97425	0.0:1.0:0.0:0.0	.	236	O43155	FLRT2_HUMAN	L	236	ENSP00000332879:S236L;ENSP00000451050:S236L	ENSP00000332879:S236L	S	+	2	0	0	FLRT2	85158318	85158318	1.000000	0.71417	0.474000	0.27266	0.730000	0.41778	7.817000	0.86213	2.722000	0.93159	0.650000	0.86243	TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000				98	96		380	376	1		1	0		0	0	91	0		1	9.981434e-01	0	0	0	39	0	98	380
FLRT2	23768	broad.mit.edu	37	14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	485	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		TAACTTAGAGCCCCGATCCAC	0.522																																						ENST00000330753.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1453-1455)Ccc>Tcc		fibronectin leucine rich transmembrane protein 2							147.0	128.0	135.0					14																	86089311		2203	4300	6503	SO:0001583	missense	23768	0	0					g.chr14:86089311C>T	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.1453C>T	chr14.hg19:g.86089311C>T	ENSP00000332879:p.Pro485Ser	0					FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	p.P485S	NM_013231.4	NP_037363.1	0	1	1	1.986586	O43155	FLRT2_HUMAN		2	2220	+			A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	1	1	hg19	c.1453C>T	CCDS9877.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544586	0.45280	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.68479	-0.33;-0.33	5.87	5.87	0.94306	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.55990	1.75	0.80722	D	1	P	0.44139	0.827	B	0.42087	0.375	T	0.71686	-0.4518	10	0.87932	D	0	-27.8567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	485	O43155	FLRT2_HUMAN	S	485;485;138	ENSP00000332879:P485S;ENSP00000451050:P485S	ENSP00000332879:P485S	P	+	1	0	0	FLRT2	85159064	85159064	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000				109	106		551	544	1		1	0		0	0	142	0		1	9.953042e-01	0	0	0	43	0	109	551
GALC	2581	broad.mit.edu	37	14	88411996	88411996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88411996C>T	ENST00000261304.2	-	14	1677	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	524					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGATGCTCGCCAGGGTCTTC	0.408																																						ENST00000261304.2	0.410000	0.120000	3.300000e-01	1.800000e-01	0.240000	0.260777	0.240000	0.240000																										0				21						c.(1570-1572)gGc>gAc		galactosylceramidase							106.0	102.0	103.0					14																	88411996		1850	4093	5943	SO:0001583	missense	2581	0	0					g.chr14:88411996C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1571G>A	chr14.hg19:g.88411996C>T	ENSP00000261304:p.Gly524Asp	0					GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D	p.G524D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	0	1	1	1.986586	P54803	GALC_HUMAN		14	1677	-			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	0	1	hg19	c.1571G>A	CCDS9878.2	0	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854964	0.51376	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.51	3.57	0.40892	5.51	3.57	0.40892	.	0.102365	0.64402	D	0.000002	D	0.93080	0.7797	M	0.64676	1.99	0.58432	D	0.999999	B;B;B;B	0.23990	0.013;0.044;0.035;0.095	B;B;B;B	0.31245	0.01;0.091;0.032;0.126	D	0.91738	0.5402	10	0.51188	T	0.08	-13.2204	13.2731	0.60172	0.1253:0.7539:0.1208:0.0	.	468;501;498;524	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	D	524;468;498;313;501	ENSP00000261304:G524D;ENSP00000437513:G468D;ENSP00000377199:G498D;ENSP00000377198:G501D	ENSP00000261304:G524D	G	-	2	0	0	GALC	87481749	87481749	1.000000	0.71417	0.884000	0.34674	0.018000	0.09664	5.790000	0.69038	1.444000	0.47605	0.591000	0.81541	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.376155	1	0.170000				11	11		521	514	0		1	1		0	0	95	0		9.982363e-01	8.489805e-01	0	5	0	158	0	11	521
GALC	2581	broad.mit.edu	37	14	88431876	88431876	+	Missense_Mutation	SNP	C	C	T	rs185073540	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88431876C>T	ENST00000261304.2	-	9	1112	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	GALC_ENST00000393569.2_Missense_Mutation_p.V310M|GALC_ENST00000544807.2_Missense_Mutation_p.V280M|GALC_ENST00000393568.4_Missense_Mutation_p.V313M	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	336					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTCTACCACGTAGTGCCCA	0.458													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		15321	0.0		0.0	False		,,,				2504	0.0					ENST00000261304.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1006-1008)Gtg>Atg		galactosylceramidase		C	MET/VAL,MET/VAL,MET/VAL	56,3788		0,56,1866	88.0	96.0	93.0		1006,937,928	3.3	0.1	14		93	0,8260		0,0,4130	yes	missense,missense,missense	GALC	NM_000153.3,NM_001201401.1,NM_001201402.1	21,21,21	0,56,5996	TT,TC,CC		0.0,1.4568,0.4627	possibly-damaging,possibly-damaging,possibly-damaging	336/686,313/663,310/660	88431876	56,12048	1922	4130	6052	SO:0001583	missense	2581	131	120846	53				g.chr14:88431876C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1006G>A	chr14.hg19:g.88431876C>T	ENSP00000261304:p.Val336Met	0					GALC_ENST00000544807.2_Missense_Mutation_p.V280M|GALC_ENST00000393569.2_Missense_Mutation_p.V310M|GALC_ENST00000393568.4_Missense_Mutation_p.V313M	p.V336M	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	0	1	1	1.986586	P54803	GALC_HUMAN		9	1112	-			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	1	0	hg19	c.1006G>A	CCDS9878.2	1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	14.70	2.613413	0.46631	0.014568	0.0	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568;ENST00000445021	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	6.17	3.32	0.38043	6.17	3.32	0.38043	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.671454	0.15342	N	0.267443	D	0.94208	0.8141	M	0.85630	2.765	0.21064	N	0.999799	D;P;P;P;P	0.53745	0.962;0.944;0.935;0.935;0.947	B;P;P;B;P	0.54544	0.315;0.755;0.606;0.221;0.618	D	0.87709	0.2565	10	0.48119	T	0.1	-0.2496	6.8754	0.24143	0.0:0.6588:0.1291:0.2121	.	280;313;310;336;336	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	M	336;280;310;125;313;336	ENSP00000261304:V336M;ENSP00000437513:V280M;ENSP00000377199:V310M;ENSP00000377198:V313M	ENSP00000261304:V336M	V	-	1	0	0	GALC	87501629	87501629	0.000000	0.05858	0.070000	0.20053	0.844000	0.47949	0.498000	0.22530	0.447000	0.26695	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-4.150741	1	0.170000				49	49		251	247	1		1	1		0	0	58	0		1	1	0	65	0	168	0	49	251
GPR65	8477	broad.mit.edu	37	14	88477387	88477387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88477387A>C	ENST00000267549.3	+	2	754	c.196A>C	c.(196-198)Act>Cct	p.T66P	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	66					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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTATGCATTAACTCTCCCTTT	0.378																																						ENST00000267549.3	0.350000	0.110000	2.800000e-01	1.600000e-01	0.210000	0.226510	0.210000	0.210000																										0				16						c.(196-198)Act>Cct		G protein-coupled receptor 65							157.0	154.0	155.0					14																	88477387		2203	4300	6503	SO:0001583	missense	8477	0	0					g.chr14:88477387A>C	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.196A>C	chr14.hg19:g.88477387A>C	ENSP00000267549:p.Thr66Pro	0					RP11-300J18.2_ENST00000554433.1_RNA	p.T66P	NM_003608.3	NP_003599.2	0	1	1	1.986586	Q8IYL9	PSYR_HUMAN		2	754	+			O75819	Missense_Mutation	SNP	ENST00000267549.3	0	1	hg19	c.196A>C	CCDS9879.1	0	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165130	0.57476	.	.	ENSG00000140030	ENST00000267549	T	0.73789	-0.78	5.82	5.82	0.92795	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.251553	0.29314	N	0.012518	D	0.87466	0.6184	M	0.87900	2.915	0.39757	D	0.971971	D	0.69078	0.997	D	0.67548	0.952	D	0.89914	0.4054	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	66	Q8IYL9	PSYR_HUMAN	P	66	ENSP00000267549:T66P	ENSP00000267549:T66P	T	+	1	0	0	GPR65	87547140	87547140	0.975000	0.34042	0.897000	0.35233	0.482000	0.33219	5.096000	0.64535	2.221000	0.72209	0.528000	0.53228	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4	0	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-9.900300	1	0.170000				13	13		704	691	0		1	0		0	0	146	0		9.994744e-01	8.711888e-02	0	0	0	25	0	13	704
KCNK10	54207	broad.mit.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H|KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667																																						ENST00000340700.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1219-1221)cGc>cAc		potassium channel, subfamily K, member 10		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	61.0	60.0		1220,1235,1235	4.8	1.0	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense	54207	4	121412	36				g.chr14:88652276C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	chr14.hg19:g.88652276C>T	ENSP00000343104:p.Arg407His	0					KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	p.R407H	NM_021161.4	NP_066984.1	0	1	1	1.986586	P57789	KCNKA_HUMAN		7	1671	-			B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	1	1	hg19	c.1220G>A	CCDS9880.1	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	0	KCNK10	87722029	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_021161			95	97		377	373	1		1	0		0	0	59	0		1	0	0	1	0	0	0	95	377
KCNK10	54207	broad.mit.edu	37	14	88654372	88654372	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88654372G>A	ENST00000340700.5	-	6	1386	c.935C>T	c.(934-936)gCa>gTa	p.A312V	KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V|KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	312					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGACAGCTGCAAAGTAGGC	0.473																																						ENST00000340700.5	0.380000	0.110000	3.100000e-01	1.600000e-01	0.220000	0.240275	0.220000	0.220000																										0				47						c.(934-936)gCa>gTa		potassium channel, subfamily K, member 10							155.0	152.0	153.0					14																	88654372		2203	4300	6503	SO:0001583	missense	54207	0	0					g.chr14:88654372G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.935C>T	chr14.hg19:g.88654372G>A	ENSP00000343104:p.Ala312Val	0					KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V	p.A312V	NM_021161.4	NP_066984.1	0	1	1	1.986586	P57789	KCNKA_HUMAN		6	1386	-			B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	0	1	hg19	c.935C>T	CCDS9880.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.411462	0.96072	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.32023	1.47;1.47;1.47	5.82	5.82	0.92795	5.82	5.82	0.92795	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	1.0;1.0;0.954	T	0.50882	-0.8775	10	0.45353	T	0.12	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	312;317;317	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	312;317;317	ENSP00000343104:A312V;ENSP00000310568:A317V;ENSP00000312811:A317V	ENSP00000310568:A317V	A	-	2	0	0	KCNK10	87724125	87724125	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.561000	0.74099	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	0	0	1		17	2	2	1		1	1	121		121	120	1	2.060000	-2.775983	1	0.170000	NM_021161			11	11		567	553	0		0	0		1	0	121	0		1.511013e-01	2.680293e-03	0	0	0	4	0	11	567
KCNK10	54207	broad.mit.edu	37	14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D|KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	243					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507																																						ENST00000340700.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(727-729)gGc>gAc		potassium channel, subfamily K, member 10							198.0	179.0	186.0					14																	88658693		2203	4300	6503	SO:0001583	missense	54207	0	0					g.chr14:88658693C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.728G>A	chr14.hg19:g.88658693C>T	ENSP00000343104:p.Gly243Asp	0					KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D|KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D	p.G243D	NM_021161.4	NP_066984.1	0	1	1	1.986586	P57789	KCNKA_HUMAN		5	1179	-			B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	1	1	hg19	c.728G>A	CCDS9880.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.438248	0.96168	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	H	0.94542	3.55	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	0.74284	-0.3715	10	0.66056	D	0.02	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	243;248;248	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	243;248;248	ENSP00000343104:G243D;ENSP00000310568:G248D;ENSP00000312811:G248D	ENSP00000310568:G248D	G	-	2	0	0	KCNK10	87728446	87728446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-20.000000	1	0.170000	NM_021161			83	80		466	460	1		1	0		0	0	124	0		1	2.347510e-02	0	1	0	1	0	83	466
SPATA7	55812	broad.mit.edu	37	14	88904553	88904553	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000393545.4	+	12	1876	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000556553.1_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	529					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348																																						ENST00000393545.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				18						c.(1585-1587)gaC>gaT		spermatogenesis associated 7							79.0	76.0	77.0					14																	88904553		2203	4300	6503	SO:0001819	synonymous_variant	55812	0	0					g.chr14:88904553C>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1587C>T	chr14.hg19:g.88904553C>T		0					SPATA7_ENST00000556553.1_Silent_p.D497D|SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron	p.D529D	NM_018418.4	NP_060888.2	0	1	1	1.986586	Q9P0W8	SPAT7_HUMAN		12	1876	+			Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	1	1	hg19	c.1587C>T	CCDS9883.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				50	47		320	312	0		1	1		0	0	82	0		1	9.747355e-01	0	11	0	29	0	50	320
PTPN21	11099	broad.mit.edu	37	14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	513					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			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						GTAGCTCAGGCTGAACGGGCA	0.711																																						ENST00000556564.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1537-1539)aGc>aAc		protein tyrosine phosphatase, non-receptor type 21							35.0	44.0	41.0					14																	88946237		2201	4298	6499	SO:0001583	missense	11099	0	0					g.chr14:88946237C>T	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.1538G>A	chr14.hg19:g.88946237C>T	ENSP00000452414:p.Ser513Asn	0					PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	p.S513N	NM_007039.3	NP_008970.2	0	1	1	1.986586	Q16825	PTN21_HUMAN		13	1822	-				Missense_Mutation	SNP	ENST00000556564.1	1	1	hg19	c.1538G>A	CCDS9884.1	1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710303	0.03230	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71222	-0.55;-0.55	5.35	-10.7	0.00240	5.35	-10.7	0.00240	.	0.392170	0.29987	N	0.010681	T	0.21674	0.0522	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	10	0.02654	T	1	.	8.8099	0.34961	0.0:0.2595:0.4736:0.2669	.	513	Q16825	PTN21_HUMAN	N	513	ENSP00000330276:S513N;ENSP00000452414:S513N	ENSP00000330276:S513N	S	-	2	0	0	PTPN21	88015990	88015990	0.516000	0.26218	0.000000	0.03702	0.349000	0.29174	0.820000	0.27323	-2.497000	0.00513	-0.311000	0.09066	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				101	101		422	413	0		1	1		0	0	74	0		1	4.070651e-01	0	3	0	4	0	101	422
PTPN21	11099	broad.mit.edu	37	14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	109	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)			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						CTGCAGCTGAGAAACTGAAGG	0.403																																						ENST00000556564.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(325-327)tCt>tAt		protein tyrosine phosphatase, non-receptor type 21							106.0	96.0	100.0					14																	88983460		2203	4300	6503	SO:0001583	missense	11099	0	0					g.chr14:88983460G>T	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.326C>A	chr14.hg19:g.88983460G>T	ENSP00000452414:p.Ser109Tyr	0					PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y	p.S109Y	NM_007039.3	NP_008970.2	0	1	1	1.986586	Q16825	PTN21_HUMAN		3	610	-				Missense_Mutation	SNP	ENST00000556564.1	1	1	hg19	c.326C>A	CCDS9884.1	1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984700	0.35036	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	3.96	0.45880	5.77	3.96	0.45880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.361101	0.26307	N	0.025124	D	0.85609	0.5736	M	0.85777	2.775	0.09310	N	0.999997	B;P	0.48016	0.125;0.904	B;P	0.54312	0.094;0.748	T	0.79266	-0.1874	10	0.87932	D	0	.	12.6804	0.56918	0.1189:0.0:0.8811:0.0	.	109;109	G3V3S6;Q16825	.;PTN21_HUMAN	Y	109	ENSP00000330276:S109Y;ENSP00000452414:S109Y;ENSP00000451401:S109Y	ENSP00000330276:S109Y	S	-	2	0	0	PTPN21	88053213	88053213	0.987000	0.35691	0.012000	0.15200	0.253000	0.25986	3.331000	0.52075	0.796000	0.33947	0.561000	0.74099	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-3.457715	1	0.170000				63	63		276	271	1		1	1		0	0	61	0		1	9.864643e-01	0	5	0	27	0	63	276
PTPN21	11099	broad.mit.edu	37	14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	105	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)			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						AACTGAAGGCACATAAAACAC	0.403																																						ENST00000556564.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(313-315)gTg>gCg		protein tyrosine phosphatase, non-receptor type 21							113.0	102.0	106.0					14																	88983472		2203	4300	6503	SO:0001583	missense	11099	1	121412	26				g.chr14:88983472A>G	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.314T>C	chr14.hg19:g.88983472A>G	ENSP00000452414:p.Val105Ala	0					PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A	p.V105A	NM_007039.3	NP_008970.2	0	1	1	1.986586	Q16825	PTN21_HUMAN		3	598	-				Missense_Mutation	SNP	ENST00000556564.1	1	1	hg19	c.314T>C	CCDS9884.1	1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417638	0.62622	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78364	-1.17;-1.17;-1.17	5.77	5.77	0.91146	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.076746	0.51477	D	0.000088	T	0.80253	0.4589	L	0.39633	1.23	0.44627	D	0.997602	P;P	0.51537	0.855;0.946	P;P	0.54060	0.615;0.741	T	0.82333	-0.0509	10	0.72032	D	0.01	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	105;105	G3V3S6;Q16825	.;PTN21_HUMAN	A	105	ENSP00000330276:V105A;ENSP00000452414:V105A;ENSP00000451401:V105A	ENSP00000330276:V105A	V	-	2	0	0	PTPN21	88053225	88053225	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	9.339000	0.96797	2.200000	0.70718	0.459000	0.35465	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				65	65		285	282	1		1	1		0	0	62	0		1	9.812149e-01	0	5	0	25	0	65	285
ZC3H14	79882	broad.mit.edu	37	14	89038501	89038501	+	Silent	SNP	C	C	T	rs376580827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000251038.5	+	5	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S	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	121						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488																																						ENST00000251038.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(361-363)agC>agT		zinc finger CCCH-type containing 14		C	,,,,	0,4406		0,0,2203	104.0	101.0	102.0		363,363,363,363,261	2.8	0.7	14		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZC3H14	NM_001160103.1,NM_001160104.1,NM_024824.4,NM_207660.3,NM_207661.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	121/736,121/731,121/737,121/580,87/572	89038501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79882	1	121412	33				g.chr14:89038501C>T	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.363C>T	chr14.hg19:g.89038501C>T		0					ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000302216.8_Silent_p.S121S	p.S121S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	0	1	1	1.986586	Q6PJT7	ZC3HE_HUMAN		5	588	+			A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	1	1	hg19	c.363C>T	CCDS32133.1	1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574602	0.03882	0.0	1.16E-4	ENSG00000100722	ENST00000556000	.	.	.	5.66	2.84	0.33178	5.66	2.84	0.33178	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	-1.469	10.1704	0.42906	0.0:0.734:0.0:0.266	.	.	.	.	V	37	.	.	A	+	2	0	0	ZC3H14	88108254	88108254	0.187000	0.23238	0.682000	0.30024	0.019000	0.09904	0.223000	0.17719	0.323000	0.23307	0.563000	0.77884	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.367638	1	0.170000	NM_024824			83	80		344	335	0		1	1		0	0	92	0		1	1	0	42	0	87	0	83	344
ZC3H14	79882	broad.mit.edu	37	14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000251038.5	+	6	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N	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	240						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408																																						ENST00000251038.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(718-720)aGt>aAt		zinc finger CCCH-type containing 14							122.0	121.0	121.0					14																	89039209		2203	4300	6503	SO:0001583	missense	79882	0	0					g.chr14:89039209G>A	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.719G>A	chr14.hg19:g.89039209G>A	ENSP00000251038:p.Ser240Asn	0					ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N	p.S240N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	0	1	1	1.986586	Q6PJT7	ZC3HE_HUMAN		6	944	+			A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	1	1	hg19	c.719G>A	CCDS32133.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728675|1.728675	0.30593|0.30593	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	3.1|3.1	0.35709|0.35709	5.92|5.92	3.1|3.1	0.35709|0.35709	.|.	0.147633|.	0.64402|.	D|.	0.000009|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.10685|0.10685	0.025|0.025	0.32355|0.32355	N|N	0.557954|0.557954	B;B;B;B;B;B|.	0.14012|.	0.001;0.003;0.001;0.001;0.009;0.001|.	B;B;B;B;B;B|.	0.16722|.	0.003;0.011;0.003;0.001;0.016;0.002|.	T|T	0.36237|0.36237	-0.9756|-0.9756	9|5	0.11794|.	T|.	0.64|.	-8.3463|-8.3463	11.4889|11.4889	0.50369|0.50369	0.2368:0.0:0.7632:0.0|0.2368:0.0:0.7632:0.0	.|.	240;221;240;240;240;240|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	240;240;240;206;240;221;240;85;206;240;240;206|156	.|.	ENSP00000251038:S240N|.	S|V	+|+	2|1	0|0	0|0	ZC3H14|ZC3H14	88108962|88108962	88108962|88108962	0.965000|0.965000	0.33210|0.33210	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	0.683000|0.683000	0.25349|0.25349	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AGT|GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_024824			94	93		427	424	1		1	1		0	0	114	0		1	9.999998e-01	0	33	0	67	0	94	427
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000251038.5	+	9	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S	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	425						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343																																						ENST00000251038.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1273-1275)aAt>aGt		zinc finger CCCH-type containing 14							47.0	51.0	49.0					14																	89044479		2201	4299	6500	SO:0001583	missense	79882	0	0					g.chr14:89044479A>G	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.1274A>G	chr14.hg19:g.89044479A>G	ENSP00000251038:p.Asn425Ser	0					ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S	p.N425S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	0	1	1	1.986586	Q6PJT7	ZC3HE_HUMAN		9	1499	+			A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	1	1	hg19	c.1274A>G	CCDS32133.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.653|0.653	-0.808587|-0.808587	0.02819|0.02819	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.08118|0.08118	0|0	0.24646|0.24646	N|N	0.993545|0.993545	.|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	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.30880|0.30880	-0.9963|-0.9963	5|9	.|0.09590	.|T	.|0.72	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	V|S	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425S	I|N	+|+	1|2	0|0	0|0	ZC3H14|ZC3H14	88114232|88114232	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_024824			56	56		256	254	1		1	1		0	0	81	0		1	1	0	49	0	133	0	56	256
EML5	161436	broad.mit.edu	37	14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000380664.5	-	40	5701	c.5702G>A	c.(5701-5703)gGa>gAa	p.G1901E	EML5_ENST00000554922.1_Missense_Mutation_p.G1909E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1901						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			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						AAGACTGATTCCTGAATGAGA	0.393																																						ENST00000380664.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(5701-5703)gGa>gAa		echinoderm microtubule associated protein like 5							88.0	84.0	86.0					14																	89083140		1931	4136	6067	SO:0001583	missense	161436	0	0					g.chr14:89083140C>T	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.5702G>A	chr14.hg19:g.89083140C>T	ENSP00000370039:p.Gly1901Glu	0					EML5_ENST00000554922.1_Missense_Mutation_p.G1909E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E	p.G1901E			0	1	1	1.986586	Q05BV3	EMAL5_HUMAN		40	5701	-			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	1	1	hg19	c.5702G>A	CCDS45148.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969264	0.92855	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.22134	1.97;1.97;1.97	5.26	5.26	0.73747	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48647	-0.9017	10	0.48119	T	0.1	-16.733	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1901	Q05BV3	EMAL5_HUMAN	E	1909;1863;1901	ENSP00000451998:G1909E;ENSP00000298315:G1863E;ENSP00000370039:G1901E	ENSP00000298315:G1863E	G	-	2	0	0	EML5	88152893	88152893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				49	48		185	182	1		1	0		0	0	37	0		1	1.990758e-01	0	0	0	4	0	49	185
EML5	161436	broad.mit.edu	37	14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000380664.5	-	13	2031	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*|EML5_ENST00000554922.1_Nonsense_Mutation_p.R678*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	678						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			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						AAGTGTAATCGAATACTATTT	0.343																																						ENST00000380664.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				50						c.(2032-2034)Cga>Tga		echinoderm microtubule associated protein like 5							146.0	131.0	135.0					14																	89171223		1813	4074	5887	SO:0001587	stop_gained	161436	1	120770	28				g.chr14:89171223G>A	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.2032C>T	chr14.hg19:g.89171223G>A	ENSP00000370039:p.Arg678*	0					EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*|EML5_ENST00000554922.1_Nonsense_Mutation_p.R678*	p.R678*			0	1	1	1.986586	Q05BV3	EMAL5_HUMAN		13	2031	-			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	0	1	hg19	c.2032C>T	CCDS45148.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.219840	0.99105	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.243309	0.32624	N	0.005856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.7002	13.3525	0.60609	0.0:0.0:0.8037:0.1963	.	.	.	.	X	678	.	ENSP00000298315:R678X	R	-	1	2	2	EML5	88240976	88240976	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.033000	0.57282	2.615000	0.88500	0.557000	0.71058	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.817101	1	0.170000				36	35		206	202	1		1	0		0	0	60	0		1	2.351957e-02	0	0	0	2	0	36	206
TTC8	123016	broad.mit.edu	37	14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000346301.4_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	46			Missing (in RP51).		axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTGCCAGTGCATCAGGT	0.343																																						ENST00000380656.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999900	0.990000	1.000000																										0				15						c.(136-138)Gtg>Atg		tetratricopeptide repeat domain 8							113.0	112.0	112.0					14																	89300058		2203	4300	6503	SO:0001583	missense	123016	0	0					g.chr14:89300058G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000380656.2:c.136G>A	chr14.hg19:g.89300058G>A	ENSP00000370031:p.Val46Met	0					TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000346301.4_Intron	p.V46M	NM_144596.2	NP_653197.2	0	1	1	1.986586	Q8TAM2	TTC8_HUMAN		2	182	+			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000380656.2	1	1	hg19	c.136G>A	CCDS32137.1	1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251971	0.22880	.	.	ENSG00000165533	ENST00000380656	T	0.77229	-1.08	5.79	1.82	0.25136	5.79	1.82	0.25136	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.18873	N	0.999988	B	0.15473	0.013	B	0.11329	0.006	T	0.37957	-0.9683	9	0.26408	T	0.33	.	4.7346	0.12982	0.2461:0.0:0.6041:0.1498	.	46	Q8TAM2-4	.	M	46	ENSP00000370031:V46M	ENSP00000370031:V46M	V	+	1	0	0	TTC8	88369811	88369811	0.141000	0.22595	0.160000	0.22671	0.926000	0.56050	-0.107000	0.10873	0.346000	0.23899	0.561000	0.74099	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TTC8-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410866.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_144596			38	38		237	230	1		1	0		0	0	48	0		1	2.025816e-02	0	0	0	2	0	38	237
TTC8	123016	broad.mit.edu	37	14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000345383.5	+	4	483	c.399A>C	c.(397-399)agA>agC	p.R133S	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Missense_Mutation_p.R133S|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	143					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532																																						ENST00000345383.5	1.000000	0.660000	1	8.000000e-01	0.960000	0.919151	0.960000	1.000000																										0				15						c.(397-399)agA>agC		tetratricopeptide repeat domain 8							50.0	57.0	54.0					14																	89307480		2203	4300	6503	SO:0001583	missense	123016	0	0					g.chr14:89307480A>C	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.399A>C	chr14.hg19:g.89307480A>C	ENSP00000339486:p.Arg133Ser	0					Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000338104.6_Missense_Mutation_p.R133S|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S	p.R133S	NM_198309.2	NP_938051.1	0	1	1	1.986586	Q8TAM2	TTC8_HUMAN		4	483	+			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	1	1	hg19	c.399A>C	CCDS9885.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.90|19.90|19.90	3.912562|3.912562|3.912562	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000343648|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	.|.|T;T;T;T	.|.|0.80909	.|.|-1.3;-1.38;-1.43;-1.29	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.88366|0.88366|0.88366	0.6417|0.6417|0.6417	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.993;1.0;0.999;1.0;0.998	.|.|D;D;D;D;D	.|.|0.87578	.|.|0.977;0.998;0.976;0.998;0.976	D|D|D	0.86104|0.86104|0.86104	0.1558|0.1558|0.1558	5|6|10	.|0.66056|0.62326	.|D|D	.|0.02|0.03	-19.6436|-19.6436|-19.6436	9.9788|9.9788|9.9788	0.41800|0.41800|0.41800	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.|.	.|.|143;133;143;133;143	.|.|Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	.|.|TTC8_HUMAN;.;.;.;.	A|H|S	123|185|133;133;133;143;133	.|.|ENSP00000339486:R133S;ENSP00000298324:R133S;ENSP00000337653:R133S;ENSP00000370031:R143S	.|ENSP00000343586:N185H|ENSP00000337653:R133S	E|N|R	+|+|+	2|1|3	0|0|2	0|0|2	TTC8|TTC8|TTC8	88377233|88377233|88377233	88377233|88377233|88377233	0.925000|0.925000|0.925000	0.31364|0.31364|0.31364	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	0.162000|0.162000|0.162000	0.16501|0.16501|0.16501	-0.385000|-0.385000|-0.385000	0.07833|0.07833|0.07833	-0.371000|-0.371000|-0.371000	0.07208|0.07208|0.07208	GAA|AAC|AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-2.806910	1	0.170000	NM_144596			29	29		324	309	1		1	1		0	0	80	0		1	9.921949e-01	0	12	0	75	0	29	324
TTC8	123016	broad.mit.edu	37	14	89343705	89343705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89343705A>G	ENST00000345383.5	+	14	1553	c.1469A>G	c.(1468-1470)gAc>gGc	p.D490G	TTC8_ENST00000354441.6_Missense_Mutation_p.D235G|TTC8_ENST00000338104.6_Missense_Mutation_p.D516G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	526					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GACCATGTGGACACACAACAT	0.398																																						ENST00000345383.5	0.450000	0.100000	3.500000e-01	1.600000e-01	0.240000	0.260982	0.240000	0.230000																										0				15						c.(1468-1470)gAc>gGc		tetratricopeptide repeat domain 8							109.0	93.0	98.0					14																	89343705		2203	4300	6503	SO:0001583	missense	123016	0	0					g.chr14:89343705A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1469A>G	chr14.hg19:g.89343705A>G	ENSP00000339486:p.Asp490Gly	0					TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000338104.6_Missense_Mutation_p.D516G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G	p.D490G	NM_198309.2	NP_938051.1	0	1	1	1.986586	Q8TAM2	TTC8_HUMAN		14	1553	+			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	0	1	hg19	c.1469A>G	CCDS9885.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334667|3.334667	0.60853|0.60853	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.78595|.	0.58;0.58;0.58;0.58;0.58;-1.19;-1.19|.	5.41|5.41	5.41|5.41	0.78517|0.78517	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.046399|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;B;P;B;B|.	0.59767|.	0.986;0.006;0.952;0.036;0.036|.	P;B;P;B;B|.	0.57846|.	0.828;0.02;0.612;0.044;0.073|.	T|T	0.74426|0.74426	-0.3669|-0.3669	10|5	0.46703|.	T|.	0.11|.	-23.1343|-23.1343	15.7397|15.7397	0.77882|0.77882	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	235;261;526;470;500|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	G|A	490;261;460;516;235;500;302|422	ENSP00000339486:D490G;ENSP00000445067:D261G;ENSP00000298324:D460G;ENSP00000337653:D516G;ENSP00000346427:D235G;ENSP00000370031:D500G;ENSP00000351439:D302G|.	ENSP00000337653:D516G|.	D|T	+|+	2|1	0|0	0|0	TTC8|TTC8	88413458|88413458	88413458|88413458	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.973000|0.973000	0.67179|0.67179	8.532000|8.532000	0.90613|0.90613	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAC|ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.097419	1	0.170000	NM_144596			7	7		345	344	0		1	1		0	0	53	0		9.806709e-01	4.063924e-01	0	3	0	60	0	7	345
TDP1	55775	broad.mit.edu	37	14	90485729	90485729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y|TDP1_ENST00000393452.3_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	537					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527								Repair of DNA-protein crosslinks																														ENST00000335725.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				25						c.(1609-1611)taC>taT	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							119.0	107.0	111.0					14																	90485729		2203	4300	6503	SO:0001819	synonymous_variant	55775	5	121412	38				g.chr14:90485729C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1611C>T	chr14.hg19:g.90485729C>T		0					TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	p.Y537Y	NM_018319.3	NP_060789.2	0	1	1	1.986586	Q9NUW8	TYDP1_HUMAN		15	1861	+		all_cancers(154;0.185)	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	1	1	hg19	c.1611C>T	CCDS9888.1	1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844518	0.16963	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.01	-5.69	0.02428	5.01	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4071	14.5368	0.67966	0.0:0.1961:0.0:0.8039	.	.	.	.	X	178	.	.	R	+	1	2	2	TDP1	89555482	89555482	0.015000	0.18098	0.891000	0.34965	0.962000	0.63368	-1.226000	0.02953	-1.082000	0.03101	-1.202000	0.01658	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_018319			34	34		162	161	1		1	1		0	0	31	0		1	9.998857e-01	0	19	0	51	0	34	162
KCNK13	56659	broad.mit.edu	37	14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T	rs541534783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	119					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21508	0.0		0.0	False		,,,				2504	0.0					ENST00000282146.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(355-357)gCg>gTg		potassium channel, subfamily K, member 13							94.0	101.0	99.0					14																	90650476		2203	4300	6503	SO:0001583	missense	56659	3	121412	37				g.chr14:90650476C>T	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.356C>T	chr14.hg19:g.90650476C>T	ENSP00000282146:p.Ala119Val	0						p.A119V	NM_022054.2	NP_071337.2	0	1	1	1.986586	Q9HB14	KCNKD_HUMAN		2	797	+		all_cancers(154;0.186)	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	1	1	hg19	c.356C>T	CCDS9889.1	1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105386	0.01828	.	.	ENSG00000152315	ENST00000282146	T	0.21031	2.03	5.31	4.41	0.53225	5.31	4.41	0.53225	Ion transport 2 (1);	0.178360	0.27284	N	0.020073	T	0.12518	0.0304	N	0.12443	0.215	0.58432	D	0.999999	B	0.15473	0.013	B	0.15484	0.013	T	0.11155	-1.0599	10	0.23891	T	0.37	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	119	Q9HB14	KCNKD_HUMAN	V	119	ENSP00000282146:A119V	ENSP00000282146:A119V	A	+	2	0	0	KCNK13	89720229	89720229	0.882000	0.30256	0.105000	0.21289	0.026000	0.11368	1.759000	0.38420	2.476000	0.83614	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.421544	1	0.170000	NM_022054			103	102		417	411	1		1	1		0	0	97	0		1	6.705760e-01	0	7	0	4	0	103	417
KCNK13	56659	broad.mit.edu	37	14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	210					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567																																						ENST00000282146.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(628-630)tgC>tgA		potassium channel, subfamily K, member 13							167.0	141.0	149.0					14																	90650750		2203	4300	6503	SO:0001587	stop_gained	56659	0	0					g.chr14:90650750C>A	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.630C>A	chr14.hg19:g.90650750C>A	ENSP00000282146:p.Cys210*	0						p.C210*	NM_022054.2	NP_071337.2	0	1	1	1.986586	Q9HB14	KCNKD_HUMAN		2	1071	+		all_cancers(154;0.186)	B5TJL8|Q96E79	Nonsense_Mutation	SNP	ENST00000282146.4	0	1	hg19	c.630C>A	CCDS9889.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.716592	0.96830	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.41	0.53225	5.31	4.41	0.53225	.	0.000000	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.074	0.36511	0.0:0.7791:0.0:0.2209	.	.	.	.	X	210	.	ENSP00000282146:C210X	C	+	3	2	2	KCNK13	89720503	89720503	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	0.957000	0.29215	2.476000	0.83614	0.655000	0.94253	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_022054			146	145		746	737	1		1	1		0	0	164	0		1	8.608019e-01	0	12	0	8	0	146	746
KCNK13	56659	broad.mit.edu	37	14	90651173	90651173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627																																						ENST00000282146.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1051-1053)gaC>gaT		potassium channel, subfamily K, member 13							46.0	47.0	47.0					14																	90651173		2203	4299	6502	SO:0001819	synonymous_variant	56659	0	0					g.chr14:90651173C>T	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.1053C>T	chr14.hg19:g.90651173C>T		0						p.D351D	NM_022054.2	NP_071337.2	0	1	1	1.986586	Q9HB14	KCNKD_HUMAN		2	1494	+		all_cancers(154;0.186)	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	1	1	hg19	c.1053C>T	CCDS9889.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_022054			72	71		361	353	0		1	1		0	0	69	0		1	6.180114e-01	0	5	0	7	0	72	361
PSMC1	5700	broad.mit.edu	37	14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	330					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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|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)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388																																						ENST00000261303.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				6						c.(988-990)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, ATPase, 1							138.0	137.0	138.0					14																	90735847		2203	4298	6501	SO:0001583	missense	5700	0	0					g.chr14:90735847G>A	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.988G>A	chr14.hg19:g.90735847G>A	ENSP00000261303:p.Ala330Thr	0					PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	p.A330T	NM_002802.2	NP_002793.2	0	1	1	1.986586	P62191	PRS4_HUMAN		9	1091	+		all_cancers(154;0.142)	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	1	1	hg19	c.988G>A	CCDS32139.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717645	0.89205	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94576	-3.46;-3.46	4.92	4.01	0.46588	4.92	4.01	0.46588	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.148921	0.64402	D	0.000012	D	0.95658	0.8588	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95992	0.8986	10	0.87932	D	0	-16.7283	14.7381	0.69430	0.0:0.0:0.854:0.146	.	330	P62191	PRS4_HUMAN	T	330;257	ENSP00000261303:A330T;ENSP00000445147:A257T	ENSP00000261303:A330T	A	+	1	0	0	PSMC1	89805600	89805600	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.830000	0.99415	1.166000	0.42689	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	1	0	1		2	2	2	0		0	0	99		99	105	1	2.060000	-19.999990	1	0.170000	NM_002802			68	68		492	478	1		1	1		0	0	99	0		1	9.999999e-01	0	20	0	153	0	68	492
TTC7B	145567	broad.mit.edu	37	14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000328459.6	-	19	2339	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740										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)				CGGAGCTCAGCAATCTGGCCG	0.602																																						ENST00000328459.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2218-2220)Gct>Tct		tetratricopeptide repeat domain 7B							102.0	86.0	91.0					14																	91044542		2203	4300	6503	SO:0001583	missense	145567	0	0					g.chr14:91044542C>A	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.2218G>T	chr14.hg19:g.91044542C>A	ENSP00000336127:p.Ala740Ser	0					TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S|TTC7B_ENST00000554654.1_5'UTR	p.A740S	NM_001010854.1	NP_001010854.1	0	1	1	1.986586	Q86TV6	TTC7B_HUMAN		19	2339	-		Melanoma(154;0.222)	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	1	1	hg19	c.2218G>T	CCDS32140.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.383|9.383	1.073633|1.073633	0.20147|0.20147	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.48|5.48	3.44|3.44	0.39384|0.39384	5.48|5.48	3.44|3.44	0.39384|0.39384	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.184815|.	0.46758|.	D|.	0.000263|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.17268|.	0.021;0.0|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.67577|0.67577	-0.5635|-0.5635	10|5	0.22109|.	T|.	0.4|.	-2.2328|-2.2328	12.6405|12.6405	0.56707|0.56707	0.155:0.7368:0.1082:0.0|0.155:0.7368:0.1082:0.0	.|.	740;757|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|F	638;757;740;227|167	ENSP00000349564:A757S;ENSP00000336127:A740S;ENSP00000451440:A227S|.	ENSP00000336127:A740S|.	A|C	-|-	1|2	0|0	0|0	TTC7B|TTC7B	90114295|90114295	90114295|90114295	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.177000|0.177000	0.22998|0.22998	4.822000|4.822000	0.62686|0.62686	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GCT|TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				33	33		123	119	1		1	1		0	0	30	0		1	9.992300e-01	0	7	0	38	0	33	123
TTC7B	145567	broad.mit.edu	37	14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000328459.6	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	174										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)				TCATAACAGGTGATGACATCC	0.428																																						ENST00000328459.6	0.730000	0.320000	6.200000e-01	4.100000e-01	0.500000	0.521087	0.500000	0.510000																										0				36						c.(520-522)Acc>Ccc		tetratricopeptide repeat domain 7B							152.0	135.0	141.0					14																	91211192		2203	4300	6503	SO:0001583	missense	145567	0	0					g.chr14:91211192T>G	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.520A>C	chr14.hg19:g.91211192T>G	ENSP00000336127:p.Thr174Pro	0					TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	p.T174P	NM_001010854.1	NP_001010854.1	0	1	1	1.986586	Q86TV6	TTC7B_HUMAN		4	641	-		Melanoma(154;0.222)	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	1	1	hg19	c.520A>C	CCDS32140.1	0	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493788	0.84962	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37752	1.86;1.18	5.53	5.53	0.82687	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.52573	1.65	0.58432	D	0.999998	P	0.43094	0.799	B	0.36504	0.226	T	0.08411	-1.0723	10	0.29301	T	0.29	-31.152	14.9498	0.71064	0.0:0.0:0.0:1.0	.	174	Q86TV6	TTC7B_HUMAN	P	72;174;174;72	ENSP00000349564:T174P;ENSP00000336127:T174P	ENSP00000336127:T174P	T	-	1	0	0	TTC7B	90280945	90280945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.231000	0.72958	0.460000	0.39030	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-4.500275	1	0.170000				22	22		488	480	0		1	1		0	0	111	0		9.999986e-01	4.480496e-01	0	2	0	32	0	22	488
RPS6KA5	9252	broad.mit.edu	37	14	91338562	91338562	+	Silent	SNP	C	C	T	rs144832163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91338562C>T	ENST00000261991.3	-	17	2438	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	RPS6KA5_ENST00000536315.2_Silent_p.T676T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	755					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)			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)		AACTGCTGCGCGTCTCGGTAC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		18508	0.0		0.002	False		,,,				2504	0.0					ENST00000261991.3	0.560000	0.160000	4.500000e-01	2.400000e-01	0.330000	0.349132	0.330000	0.310000																										0				24						c.(2263-2265)acG>acA		ribosomal protein S6 kinase, 90kDa, polypeptide 5		C		1,4405	2.1+/-5.4	0,1,2202	144.0	125.0	132.0		2265	-10.2	0.7	14	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RPS6KA5	NM_004755.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		755/803	91338562	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9252	13	121412	43				g.chr14:91338562C>T	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.2265G>A	chr14.hg19:g.91338562C>T		0					RPS6KA5_ENST00000536315.2_Silent_p.T676T	p.T755T	NM_004755.2	NP_004746.2	0	1	1	1.986586	O75582	KS6A5_HUMAN		17	2438	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	O95316|Q96AF7	Silent	SNP	ENST00000261991.3	0	1	hg19	c.2265G>A	CCDS9893.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.197765	1	0.170000	NM_004755			10	10		352	344	0		1	1		0	0	57	0		9.966180e-01	8.578226e-02	0	2	0	14	0	10	352
RPS6KA5	9252	broad.mit.edu	37	14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	543	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)			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)		TTTCAGATCCCTGTGCACCAC	0.438																																						ENST00000261991.3	0.830000	0.370000	7.100000e-01	4.700000e-01	0.580000	0.597223	0.580000	0.580000																										0				24						c.(1627-1629)aGg>aTg		ribosomal protein S6 kinase, 90kDa, polypeptide 5							135.0	115.0	122.0					14																	91360773		2203	4300	6503	SO:0001583	missense	9252	0	0					g.chr14:91360773C>A	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.1628G>T	chr14.hg19:g.91360773C>A	ENSP00000261991:p.Arg543Met	0					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	p.R543M	NM_004755.2	NP_004746.2	0	1	1	1.986586	O75582	KS6A5_HUMAN		13	1801	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	1	1	hg19	c.1628G>T	CCDS9893.1	0	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979109	0.74360	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	5.66	5.66	0.87406	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	0.86719	0.6000	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	543;543	O75582-2;O75582	.;KS6A5_HUMAN	M	543;464;543	ENSP00000261991:R543M;ENSP00000442803:R464M;ENSP00000402787:R543M	ENSP00000261991:R543M	R	-	2	0	0	RPS6KA5	90430526	90430526	1.000000	0.71417	0.987000	0.45799	0.533000	0.34776	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.577530	1	0.170000	NM_004755			22	21		422	414	0		1	1		0	0	78	0		9.999985e-01	2.570404e-01	0	2	0	17	0	22	422
RPS6KA5	9252	broad.mit.edu	37	14	91526692	91526692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000418736.2_Silent_p.K29K|RPS6KA5_ENST00000536315.2_5'Flank	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	29					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)			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)		GCAGCTCGTGCTTGACAGTGA	0.761																																						ENST00000261991.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				24						c.(85-87)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							9.0	10.0	9.0					14																	91526692		2151	4181	6332	SO:0001819	synonymous_variant	9252	0	0					g.chr14:91526692C>T	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.87G>A	chr14.hg19:g.91526692C>T		0					RPS6KA5_ENST00000536315.2_5'Flank|RPS6KA5_ENST00000418736.2_Silent_p.K29K	p.K29K	NM_004755.2	NP_004746.2	0	1	1	1.986586	O75582	KS6A5_HUMAN		1	260	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	O95316|Q96AF7	Silent	SNP	ENST00000261991.3	0	1	hg19	c.87G>A	CCDS9893.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_004755			22	22		59	58	0		1	1		0	0	9	0		9.999996e-01	6.847790e-01	0	2	0	6	0	22	59
CCDC88C	440193	broad.mit.edu	37	14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1496					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607																																						ENST00000389857.6	1.000000	0.550000	1	7.500000e-01	0.990000	0.910277	0.990000	1.000000																										0				24						c.(4486-4488)aGc>aTc		coiled-coil domain containing 88C							47.0	52.0	51.0					14																	91749816		2053	4177	6230	SO:0001583	missense	440193	0	0					g.chr14:91749816C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4487G>T	chr14.hg19:g.91749816C>A	ENSP00000374507:p.Ser1496Ile	0					CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	p.S1496I	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		26	4573	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	0	1	hg19	c.4487G>T	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823460	0.32237	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	1.95;0.49	5.67	4.77	0.60923	5.67	4.77	0.60923	.	0.656995	0.13910	U	0.354299	T	0.58452	0.2123	M	0.64997	1.995	0.32828	D	0.503644	P;P	0.49783	0.716;0.928	B;P	0.46253	0.312;0.509	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.6755	15.2156	0.73264	0.0:0.8605:0.1395:0.0	.	1496;20	Q9P219;Q9P219-2	DAPLE_HUMAN;.	I	1496;20;20	ENSP00000374507:S1496I;ENSP00000330332:S20I	ENSP00000330332:S20I	S	-	2	0	0	CCDC88C	90819569	90819569	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.576000	0.46033	1.377000	0.46286	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-16.729050	1	0.170000	XM_029353			11	11		116	111	1		1	1		0	0	15	0		9.982171e-01	9.550315e-01	0	11	0	48	0	11	116
CCDC88C	440193	broad.mit.edu	37	14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1408					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(4222-4224)gCc>gAc		coiled-coil domain containing 88C							212.0	220.0	217.0					14																	91755667		1957	4145	6102	SO:0001583	missense	440193	0	0					g.chr14:91755667G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4223C>A	chr14.hg19:g.91755667G>T	ENSP00000374507:p.Ala1408Asp	0						p.A1408D	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		25	4309	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.4223C>A	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751333	0.89753	.	.	ENSG00000015133	ENST00000389857	T	0.62105	0.05	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.310015	0.22674	U	0.057025	T	0.79281	0.4419	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80259	-0.1457	10	0.59425	D	0.04	-32.1102	19.1411	0.93446	0.0:0.0:1.0:0.0	.	1408	Q9P219	DAPLE_HUMAN	D	1408	ENSP00000374507:A1408D	ENSP00000374507:A1408D	A	-	2	0	0	CCDC88C	90825420	90825420	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.445000	0.90326	2.507000	0.84556	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	221		221	220	1	2.060000	-20.000000	1	0.170000	XM_029353			198	195		965	947	1		1	1		0	0	221	0		1	9.566108e-01	0	10	0	17	0	198	965
CCDC88C	440193	broad.mit.edu	37	14	91763825	91763825	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	ENST00000389857.6	-	22	3876	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1264					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGTGCAGGAAATTGACC	0.587																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.997085	0.990000	1.000000																										0				24						c.(3790-3792)Ctg>Atg		coiled-coil domain containing 88C							34.0	35.0	35.0					14																	91763825		2084	4177	6261	SO:0001583	missense	440193	0	0					g.chr14:91763825G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3790C>A	chr14.hg19:g.91763825G>T	ENSP00000374507:p.Leu1264Met	0						p.L1264M	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		22	3876	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	0	1	hg19	c.3790C>A	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426943	0.43122	.	.	ENSG00000015133	ENST00000389857	T	0.15139	2.45	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.234286	0.22159	U	0.063819	T	0.16727	0.0402	L	0.48362	1.52	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.01541	-1.1329	10	0.49607	T	0.09	-18.6969	10.2314	0.43258	0.1216:0.0:0.8784:0.0	.	1264	Q9P219	DAPLE_HUMAN	M	1264	ENSP00000374507:L1264M	ENSP00000374507:L1264M	L	-	1	2	2	CCDC88C	90833578	90833578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.864000	0.39469	2.513000	0.84729	0.609000	0.83330	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-16.816470	1	0.170000	XM_029353			7	7		18	18	1		1	1		0	0	11	0		9.861351e-01	9.934011e-01	0	8	0	22	0	7	18
CCDC88C	440193	broad.mit.edu	37	14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T	rs183646530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1214					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617													C|||	5	0.000998403	0.0	0.0029	5008	,	,		18277	0.001		0.002	False		,,,				2504	0.0					ENST00000389857.6	1.000000	0.660000	1	9.600000e-01	0.990000	0.968433	0.990000	1.000000																										0				24						c.(3640-3642)Ggt>Agt		coiled-coil domain containing 88C		C	SER/GLY	0,4202		0,0,2101	21.0	24.0	23.0		3640	-4.3	0.0	14		23	11,8453		0,11,4221	yes	missense	CCDC88C	NM_001080414.3	56	0,11,6322	TT,TC,CC		0.13,0.0,0.0868	benign	1214/2029	91766410	11,12655	2101	4232	6333	SO:0001583	missense	440193	128	120982	46				g.chr14:91766410C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3640G>A	chr14.hg19:g.91766410C>T	ENSP00000374507:p.Gly1214Ser	0						p.G1214S	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		21	3726	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	0	1	hg19	c.3640G>A	CCDS45151.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.112	0.388845	0.11581	0.0	0.0013	ENSG00000015133	ENST00000389857	T	0.12984	2.63	5.24	-4.35	0.03656	5.24	-4.35	0.03656	.	1.052770	0.07579	N	0.919860	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40117	-0.9580	10	0.36615	T	0.2	-1.4689	13.216	0.59861	0.0:0.2191:0.0:0.7809	.	1214	Q9P219	DAPLE_HUMAN	S	1214	ENSP00000374507:G1214S	ENSP00000374507:G1214S	G	-	1	0	0	CCDC88C	90836163	90836163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.734000	0.04843	-1.058000	0.02302	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-3.978256	1	0.170000	XM_029353			8	8		59	56	1		1	1		0	0	14	0		9.889614e-01	8.395522e-01	0	10	0	17	0	8	59
CCDC88C	440193	broad.mit.edu	37	14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1134					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(3400-3402)Gcg>Acg		coiled-coil domain containing 88C							65.0	71.0	69.0					14																	91770280		2144	4243	6387	SO:0001583	missense	440193	2	121118	33				g.chr14:91770280C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3400G>A	chr14.hg19:g.91770280C>T	ENSP00000374507:p.Ala1134Thr	0						p.A1134T	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		20	3486	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.3400G>A	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307042	0.60305	.	.	ENSG00000015133	ENST00000389857	T	0.17054	2.3	5.52	3.69	0.42338	5.52	3.69	0.42338	.	0.000000	0.48286	U	0.000192	T	0.22513	0.0543	L	0.46741	1.465	0.80722	D	1	D	0.61080	0.989	P	0.53518	0.728	T	0.01276	-1.1398	10	0.33141	T	0.24	-12.7778	8.6863	0.34240	0.2697:0.6613:0.0:0.069	.	1134	Q9P219	DAPLE_HUMAN	T	1134	ENSP00000374507:A1134T	ENSP00000374507:A1134T	A	-	1	0	0	CCDC88C	90840033	90840033	0.964000	0.33143	0.018000	0.16275	0.073000	0.16967	2.267000	0.43329	0.795000	0.33922	-0.258000	0.10820	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	XM_029353			67	67		376	371	1		1	1		0	0	70	0		1	9.567129e-01	0	7	0	24	0	67	376
CCDC88C	440193	broad.mit.edu	37	14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	994					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				24						c.(2980-2982)cGc>cAc		coiled-coil domain containing 88C							142.0	138.0	140.0					14																	91774720		2070	4211	6281	SO:0001583	missense	440193	1	121026	27				g.chr14:91774720C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2981G>A	chr14.hg19:g.91774720C>T	ENSP00000374507:p.Arg994His	0						p.R994H	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		17	3067	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.2981G>A	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167316	0.06461	.	.	ENSG00000015133	ENST00000389857	T	0.14516	2.5	4.53	-1.03	0.10102	4.53	-1.03	0.10102	.	0.422486	0.19662	N	0.108941	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	10	0.33141	T	0.24	-5.3296	4.6717	0.12692	0.1297:0.2315:0.0:0.6388	.	994	Q9P219	DAPLE_HUMAN	H	994	ENSP00000374507:R994H	ENSP00000374507:R994H	R	-	2	0	0	CCDC88C	90844473	90844473	0.997000	0.39634	0.001000	0.08648	0.044000	0.14063	1.276000	0.33156	-0.503000	0.06586	0.313000	0.20887	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-19.996550	1	0.170000	XM_029353			44	43		238	233	1		1	1		0	0	47	0		1	9.491561e-01	0	13	0	15	0	44	238
CCDC88C	440193	broad.mit.edu	37	14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	614					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1840-1842)Cgg>Tgg		coiled-coil domain containing 88C							74.0	75.0	75.0					14																	91780320		2109	4226	6335	SO:0001583	missense	440193	0	0					g.chr14:91780320G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1840C>T	chr14.hg19:g.91780320G>A	ENSP00000374507:p.Arg614Trp	0						p.R614W	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		15	1926	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.1840C>T	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659039	0.67586	.	.	ENSG00000015133	ENST00000389857	T	0.31510	1.49	5.46	0.828	0.18841	5.46	0.828	0.18841	.	0.630024	0.13382	U	0.392022	T	0.34337	0.0894	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.39901	-0.9591	10	0.87932	D	0	-10.4006	14.9305	0.70911	0.0:0.0:0.2364:0.7636	.	614	Q9P219	DAPLE_HUMAN	W	614	ENSP00000374507:R614W	ENSP00000374507:R614W	R	-	1	2	2	CCDC88C	90850073	90850073	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.998000	0.40796	0.224000	0.20940	0.491000	0.48974	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	XM_029353			51	48		182	174	1		1	1		0	0	43	0		1	9.980726e-01	0	12	0	25	0	51	182
CCDC88C	440193	broad.mit.edu	37	14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A	rs200829106		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19653	0.0		0.0	False		,,,				2504	0.0					ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(964-966)gCg>gTg		coiled-coil domain containing 88C							43.0	48.0	47.0					14																	91804434		2111	4231	6342	SO:0001583	missense	440193	4	121100	34				g.chr14:91804434G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.965C>T	chr14.hg19:g.91804434G>A	ENSP00000374507:p.Ala322Val	0						p.A322V	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		10	1051	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.965C>T	CCDS45151.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.631770	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.18502	2.21	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.48286	U	0.000193	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56960	0.81	T	0.25537	-1.0129	10	0.87932	D	0	-26.7377	19.4767	0.94992	0.0:0.0:1.0:0.0	.	322	Q9P219	DAPLE_HUMAN	V	322	ENSP00000374507:A322V	ENSP00000374507:A322V	A	-	2	0	0	CCDC88C	90874187	90874187	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.991000	0.88244	2.623000	0.88846	0.561000	0.74099	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	44		44	41	1	2.060000	-3.489699	1	0.170000	XM_029353			52	52		225	216	1		1	1		0	0	44	0		1	9.515962e-01	0	5	0	19	0	52	225
CCDC88C	440193	broad.mit.edu	37	14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	265					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627																																						ENST00000389857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(793-795)Cgc>Tgc		coiled-coil domain containing 88C							40.0	47.0	45.0					14																	91805638		2199	4296	6495	SO:0001583	missense	440193	0	0					g.chr14:91805638G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.793C>T	chr14.hg19:g.91805638G>A	ENSP00000374507:p.Arg265Cys	0						p.R265C	NM_001080414.3	NP_001073883.2	0	1	1	1.986586	Q9P219	DAPLE_HUMAN		8	879	-		all_cancers(154;0.0468)	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	1	1	hg19	c.793C>T	CCDS45151.1	1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583325	0.65992	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.46063	0.88	5.25	3.21	0.36854	5.25	3.21	0.36854	.	0.000000	0.47455	U	0.000234	T	0.59838	0.2223	M	0.83012	2.62	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	T	0.63010	-0.6732	10	0.87932	D	0	-13.8149	7.375	0.26823	0.0:0.1158:0.4603:0.4238	.	265	Q9P219	DAPLE_HUMAN	C	265;229	ENSP00000374507:R265C	ENSP00000374507:R265C	R	-	1	0	0	CCDC88C	90875391	90875391	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.344000	0.44010	1.185000	0.42971	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	XM_029353			37	36		124	121	1		1	1		0	0	30	0		1	9.868719e-01	0	6	0	20	0	37	124
SMEK1	55671	broad.mit.edu	37	14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554943.1	-	12	2066	c.1951C>T	c.(1951-1953)Caa>Taa	p.Q651*	SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000554684.1_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	651					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)				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)		GGATTATCTTGCCTTTCTCTT	0.313																																						ENST00000554943.1	1.000000	0.680000	1	8.100000e-01	0.960000	0.925669	0.960000	1.000000																										0				6						c.(1951-1953)Caa>Taa		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							237.0	238.0	238.0					14																	91929101		2202	4300	6502	SO:0001587	stop_gained	55671	1	121404	24				g.chr14:91929101G>A	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.1951C>T	chr14.hg19:g.91929101G>A	ENSP00000450883:p.Gln651*	0					SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000554684.1_Nonsense_Mutation_p.Q638*	p.Q651*			0	1	1	1.986586	Q6IN85	P4R3A_HUMAN		12	2066	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Nonsense_Mutation	SNP	ENST00000554943.1	0	1	hg19	c.1951C>T		1	.	.	.	.	.	.	.	.	.	.	G	43	10.496534	0.99416	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.4584	19.3709	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;412;651;412;638	.	ENSP00000337125:Q638X	Q	-	1	0	0	SMEK1	90998854	90998854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.756000	0.98918	2.576000	0.86940	0.655000	0.94253	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-10.046160	1	0.170000	NM_032560			33	33		366	362	0		1	0		0	0	93	0		1	9.999872e-01	0	0	0	192	0	33	366
SMEK1	55671	broad.mit.edu	37	14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554943.1	-	10	1727	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000554684.1_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538					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)				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)		AGCACTCTCCGGAGGATATCC	0.358																																						ENST00000554943.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1612-1614)Cgg>Tgg		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							117.0	119.0	119.0					14																	91937229		2203	4300	6503	SO:0001583	missense	55671	0	0					g.chr14:91937229G>A	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.1612C>T	chr14.hg19:g.91937229G>A	ENSP00000450883:p.Arg538Trp	0					SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000554684.1_Missense_Mutation_p.R525W	p.R538W			0	1	1	1.986586	Q6IN85	P4R3A_HUMAN		10	1727	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	1	1	hg19	c.1612C>T		1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582799	0.86748	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.48	5.48	0.80851	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.982;0.994	T	0.77408	-0.2599	10	0.72032	D	0.01	-7.1543	19.3334	0.94303	0.0:0.0:1.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	525;525;299;538;299;525	ENSP00000450864:R525W;ENSP00000337125:R525W;ENSP00000392704:R299W;ENSP00000450883:R538W;ENSP00000450891:R299W;ENSP00000452596:R525W	ENSP00000337125:R525W	R	-	1	2	2	SMEK1	91006982	91006982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.290000	0.65661	2.567000	0.86603	0.557000	0.71058	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-2.466117	0	0.170000	NM_032560			70	69		325	317	1		1	1		0	0	57	0		1	1	0	48	0	154	0	70	325
CATSPERB	79820	broad.mit.edu	37	14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	275					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)				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)				TACCGATAAGCTGTGGCGTGA	0.333																																						ENST00000256343.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				54						c.(823-825)aGc>aTc		catsper channel auxiliary subunit beta							96.0	92.0	93.0					14																	92159477		2203	4299	6502	SO:0001583	missense	79820	0	0					g.chr14:92159477C>A	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.824G>T	chr14.hg19:g.92159477C>A	ENSP00000256343:p.Ser275Ile	0						p.S275I	NM_024764.2	NP_079040.2	0	1	1	1.986586	Q9H7T0	CTSRB_HUMAN		9	980	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	1	1	hg19	c.824G>T	CCDS32142.1	1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293217	0.10567	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.08	-10.1	0.00402	5.08	-10.1	0.00402	.	6.205340	0.00496	N	0.000145	T	0.11707	0.0285	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17018	-1.0383	10	0.26408	T	0.33	15.6753	2.4325	0.04475	0.232:0.0968:0.1437:0.5274	.	275	Q9H7T0	CTSRB_HUMAN	I	275	ENSP00000256343:S275I	ENSP00000256343:S275I	S	-	2	0	0	CATSPERB	91229230	91229230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.323000	0.01117	-1.723000	0.01375	-1.251000	0.01509	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-19.999980	1	0.170000	NM_024764			54	52		323	319	1		1	1		0	0	86	0		1	2.692052e-01	0	2	0	5	0	54	323
TC2N	123036	broad.mit.edu	37	14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000556018.1_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000360594.5_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	4					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323																																						ENST00000435962.2	1.000000	0.680000	1	9.400000e-01	0.990000	0.968286	0.990000	1.000000																										0				18						c.(10-12)Gaa>Aaa		tandem C2 domains, nuclear							62.0	60.0	61.0					14																	92280104		2202	4298	6500	SO:0001583	missense	123036	0	0					g.chr14:92280104C>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.10G>A	chr14.hg19:g.92280104C>T	ENSP00000387882:p.Glu4Lys	0					TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K	p.E4K	NM_001128596.1	NP_001122068	0	1	1	1.986586	Q8N9U0	TAC2N_HUMAN		2	333	-				Missense_Mutation	SNP	ENST00000435962.2	1	1	hg19	c.10G>A	CCDS9897.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.102708	0.94245	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.20598	3.03;3.03;3.03;2.06	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.105362	0.64402	D	0.000007	T	0.32164	0.0820	M	0.64997	1.995	0.53688	D	0.999979	P;B	0.43231	0.801;0.297	B;B	0.42361	0.385;0.172	T	0.02632	-1.1131	10	0.87932	D	0	-19.9146	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4;4	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	4	ENSP00000387882:E4K;ENSP00000343199:E4K;ENSP00000353802:E4K;ENSP00000451317:E4K	ENSP00000343199:E4K	E	-	1	0	0	TC2N	91349857	91349857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.941000	0.99782	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-17.548270	1	0.170000	NM_152332			11	9		90	87	1		1	1		0	0	32	0		9.981986e-01	9.975845e-01	0	37	0	54	0	11	90
FBLN5	10516	broad.mit.edu	37	14	92347762	92347762	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000342058.4	-	9	1456	c.863A>C	c.(862-864)gAc>gCc	p.D288A	FBLN5_ENST00000556154.1_Splice_Site_p.D293A|FBLN5_ENST00000267620.10_Splice_Site_p.D329A	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	288	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)				TTCGTTGATGTCTGAAATGCA	0.542																																						ENST00000342058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(862-864)gAc>gCc		fibulin 5							97.0	87.0	90.0					14																	92347762		2203	4300	6503	SO:0001630	splice_region_variant	10516	0	0					g.chr14:92347762T>G	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.863-1A>C	chr14.hg19:g.92347762T>G		0					FBLN5_ENST00000267620.10_Splice_Site_p.D329A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A	p.D288A	NM_006329.3	NP_006320.2	0	1	1	1.986586	Q9UBX5	FBLN5_HUMAN		9	1456	-		all_cancers(154;0.0722)	O75966|Q6IAL4|Q6UWA3	Splice_Site	SNP	ENST00000342058.4	1	0	hg19	c.863A>C	CCDS9898.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834356	0.91036	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.99060	-5.38;-5.38;-5.38	5.5	5.5	0.81552	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	D	0.99164	1.0862	10	0.87932	D	0	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	329;293;288	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	329;288;293	ENSP00000267620:D329A;ENSP00000345008:D288A;ENSP00000451982:D293A	ENSP00000267620:D385A	D	-	2	0	0	FBLN5	91417515	91417515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.209000	0.71365	0.533000	0.62120	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		65	62		279	265	1		1	0		0	0	80	0		1	1	0	0	0	245	0	65	279
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000342058.4	-	7	1319	c.726C>T	c.(724-726)ggC>ggT	p.G242G	FBLN5_ENST00000556154.1_Silent_p.G247G|FBLN5_ENST00000267620.10_Silent_p.G283G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.G242G(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)				TGCAATGAACGCCATCTTCCT	0.547																																						ENST00000342058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G242G(1)	endometrium(1)	28						c.(724-726)ggC>ggT		fibulin 5		G		1,4405	2.1+/-5.4	0,1,2202	215.0	191.0	199.0		726	-10.6	0.0	14	dbSNP_134	199	0,8600		0,0,4300	no	coding-synonymous	FBLN5	NM_006329.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		242/449	92353550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10516	1	121412	39				g.chr14:92353550G>A	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.726C>T	chr14.hg19:g.92353550G>A		0					FBLN5_ENST00000267620.10_Silent_p.G283G|FBLN5_ENST00000556154.1_Silent_p.G247G	p.G242G	NM_006329.3	NP_006320.2	0	1	1	1.986586	Q9UBX5	FBLN5_HUMAN		7	1319	-		all_cancers(154;0.0722)	O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	1	1	hg19	c.726C>T	CCDS9898.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1	1	0	0		2	2	2	0		0	0	184		184	183	1	2.060000	-20.000000	1	0.170000				132	129		679	667	1		1	0		0	0	184	0		1	1	0	1	0	269	0	132	679
TRIP11	9321	broad.mit.edu	37	14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1623					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)			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)		TGCATTAGAGGATGAAACTAG	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000				Dom	yes			Dom	yes		14	14q31-q32	14q31-q32	9321	T	thyroid hormone receptor interactor 11				L	L	PDGFRB		AML		0				58						c.(4867-4869)tCc>tTc		thyroid hormone receptor interactor 11							105.0	96.0	99.0					14																	92465608		2203	4300	6503	SO:0001583	missense	9321	0	0					g.chr14:92465608G>A	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.4868C>T	chr14.hg19:g.92465608G>A	ENSP00000267622:p.Ser1623Phe	0						p.S1623F	NM_004239.3	NP_004230.2	0	1	1	1.986586	Q15643	TRIPB_HUMAN		13	5241	-			B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	1	1	hg19	c.4868C>T	CCDS9899.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318692	0.81469	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06528	3.29	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	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	T	0.02450	-1.1157	10	0.87932	D	0	.	19.1395	0.93443	0.0:0.0:1.0:0.0	.	1359;1623	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1623;1359	ENSP00000267622:S1623F	ENSP00000267622:S1623F	S	-	2	0	0	TRIP11	91535361	91535361	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	8.971000	0.93419	2.538000	0.85594	0.655000	0.94253	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				41	41		213	213	1		1	1		0	0	53	0		1	9.995268e-01	0	12	0	51	0	41	213
TRIP11	9321	broad.mit.edu	37	14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1403					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)			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)		TTGCAAAACATCTTGTTTCTC	0.353			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		14	14q31-q32	14q31-q32	9321	T	thyroid hormone receptor interactor 11				L	L	PDGFRB		AML		0				58						c.(4207-4209)gAt>gGt		thyroid hormone receptor interactor 11							106.0	103.0	104.0					14																	92470112		2203	4300	6503	SO:0001583	missense	9321	1	121406	32				g.chr14:92470112T>C	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.4208A>G	chr14.hg19:g.92470112T>C	ENSP00000267622:p.Asp1403Gly	0						p.D1403G	NM_004239.3	NP_004230.2	0	1	1	1.986586	Q15643	TRIPB_HUMAN		11	4581	-			B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	1	1	hg19	c.4208A>G	CCDS9899.1	1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955509	0.53293	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05580	3.42	5.36	4.21	0.49690	5.36	4.21	0.49690	.	0.442134	0.25135	N	0.032875	T	0.10294	0.0252	L	0.47716	1.5	0.39889	D	0.973749	B;P	0.48503	0.015;0.911	B;P	0.47705	0.015;0.555	T	0.04255	-1.0965	10	0.59425	D	0.04	.	10.9328	0.47228	0.0:0.0738:0.0:0.9262	.	1139;1403	F5H1Z0;Q15643	.;TRIPB_HUMAN	G	1403;1139	ENSP00000267622:D1403G	ENSP00000267622:D1403G	D	-	2	0	0	TRIP11	91539865	91539865	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	4.849000	0.62882	0.875000	0.35847	0.379000	0.24179	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				82	80		358	350	1		1	1		0	0	72	0		1	9.999996e-01	0	27	0	67	0	82	358
CPSF2	53981	broad.mit.edu	37	14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	238					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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(712-714)Gac>Aac		cleavage and polyadenylation specific factor 2, 100kDa							216.0	192.0	201.0					14																	92608558		2203	4300	6503	SO:0001583	missense	53981	0	0					g.chr14:92608558G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.712G>A	chr14.hg19:g.92608558G>A	ENSP00000298875:p.Asp238Asn	0						p.D238N	NM_017437.2	NP_059133.1	0	1	1	1.986586	Q9P2I0	CPSF2_HUMAN		8	997	+		all_cancers(154;0.0766)	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	1	1	hg19	c.712G>A	CCDS9902.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.566748	0.96540	.	.	ENSG00000165934	ENST00000298875	T	0.52295	0.67	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.045879	0.85682	D	0.000000	T	0.77212	0.4097	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81466	-0.0920	10	0.46703	T	0.11	.	19.4	0.94625	0.0:0.0:1.0:0.0	.	238	Q9P2I0	CPSF2_HUMAN	N	238	ENSP00000298875:D238N	ENSP00000298875:D238N	D	+	1	0	0	CPSF2	91678311	91678311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.575000	0.86900	0.563000	0.77884	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	0	0	1		17	5	2	1		1	1	162		162	162	1	2.060000	-20.000000	1	0.170000				142	139		627	613	1		1	1		1	0	162	0		1	9.999997e-01	0	33	0	99	0	142	627
CPSF2	53981	broad.mit.edu	37	14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	312					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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4	1.000000	0.650000	1	7.900000e-01	0.970000	0.920401	0.970000	1.000000																										0				24						c.(934-936)cAt>cGt		cleavage and polyadenylation specific factor 2, 100kDa							108.0	92.0	98.0					14																	92609433		2203	4300	6503	SO:0001583	missense	53981	0	0					g.chr14:92609433A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.935A>G	chr14.hg19:g.92609433A>G	ENSP00000298875:p.His312Arg	0						p.H312R	NM_017437.2	NP_059133.1	0	1	1	1.986586	Q9P2I0	CPSF2_HUMAN		9	1220	+		all_cancers(154;0.0766)	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	1	1	hg19	c.935A>G	CCDS9902.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377984	0.82682	.	.	ENSG00000165934	ENST00000298875	T	0.42900	0.96	4.99	4.99	0.66335	4.99	4.99	0.66335	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58864	-0.7561	10	0.29301	T	0.29	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	312	Q9P2I0	CPSF2_HUMAN	R	312	ENSP00000298875:H312R	ENSP00000298875:H312R	H	+	2	0	0	CPSF2	91679186	91679186	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-8.708482	1	0.170000				25	24		276	269	1		1	1		0	0	76	0		9.999998e-01	9.994316e-01	0	19	0	112	0	25	276
CPSF2	53981	broad.mit.edu	37	14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	392					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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1174-1176)cTt>cCt		cleavage and polyadenylation specific factor 2, 100kDa							59.0	59.0	59.0					14																	92620736		2203	4300	6503	SO:0001583	missense	53981	0	0					g.chr14:92620736T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1175T>C	chr14.hg19:g.92620736T>C	ENSP00000298875:p.Leu392Pro	0						p.L392P	NM_017437.2	NP_059133.1	0	1	1	1.986586	Q9P2I0	CPSF2_HUMAN		10	1460	+		all_cancers(154;0.0766)	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	1	1	hg19	c.1175T>C	CCDS9902.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476771	0.84640	.	.	ENSG00000165934	ENST00000298875	T	0.57907	0.37	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79914	-0.1602	10	0.66056	D	0.02	.	16.0967	0.81129	0.0:0.0:0.0:1.0	.	392	Q9P2I0	CPSF2_HUMAN	P	392	ENSP00000298875:L392P	ENSP00000298875:L392P	L	+	2	0	0	CPSF2	91690489	91690489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.189000	0.77747	2.263000	0.75096	0.379000	0.24179	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000				32	31		86	84	1		1	1		0	0	41	0		1	1	0	59	0	124	0	32	86
SLC24A4	123041	broad.mit.edu	37	14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	42					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)			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)		TCTTCGGCAGCTTGGGTGGGT	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				36						c.(124-126)agC>agA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							44.0	44.0	44.0					14																	92790300		2203	4300	6503	SO:0001583	missense	123041	0	0					g.chr14:92790300C>A	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.126C>A	chr14.hg19:g.92790300C>A	ENSP00000431840:p.Ser42Arg	0					SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R	p.S42R			0	1	1	1.986586	Q8NFF2	NCKX4_HUMAN		1	352	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	1	1	hg19	c.126C>A	CCDS9903.2	1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340847	0.24339	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.68181	0.11;0.11;-0.31;-0.31	4.09	2.23	0.28157	4.09	2.23	0.28157	.	0.294941	0.36932	N	0.002328	T	0.35799	0.0944	N	0.08118	0	0.22926	N	0.998557	B;B	0.33583	0.418;0.399	B;B	0.30943	0.122;0.065	T	0.17258	-1.0375	10	0.15499	T	0.54	.	4.3481	0.11143	0.0:0.6001:0.1879:0.212	.	42;42	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	R	42;42;25;25	ENSP00000433302:S42R;ENSP00000431840:S42R;ENSP00000298877:S25R;ENSP00000337789:S25R	ENSP00000298877:S25R	S	+	3	2	2	SLC24A4	91860053	91860053	0.999000	0.42202	0.941000	0.38009	0.669000	0.39330	0.380000	0.20602	0.378000	0.24764	0.462000	0.41574	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_153646			23	22		117	113	0		1			0	0	24	0		9.999995e-01	0	0	0	0	0	0	23	117
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197					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)			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)		CAGGTGGTCCGTCTGACGTGG	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(589-591)cGt>cAt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							149.0	106.0	120.0					14																	92909751		2203	4300	6503	SO:0001583	missense	123041	3	121412	37				g.chr14:92909751G>A	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.590G>A	chr14.hg19:g.92909751G>A	ENSP00000431840:p.Arg197His	0					SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H	p.R197H			0	1	1	1.986586	Q8NFF2	NCKX4_HUMAN		7	816	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	1	1	hg19	c.590G>A	CCDS9903.2	1	.	.	.	.	.	.	.	.	.	.	G	6.791	0.514922	0.12944	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.89	1.46	0.22682	4.89	1.46	0.22682	Sodium/calcium exchanger membrane region (1);	0.573016	0.19313	N	0.117344	T	0.38214	0.1032	N	0.12611	0.24	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.18681	-1.0329	10	0.28530	T	0.3	.	7.6125	0.28139	0.175:0.1392:0.6858:0.0	.	197;133;197	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	H	133;197;197;180;180	ENSP00000376948:R133H;ENSP00000433302:R197H;ENSP00000431840:R197H;ENSP00000298877:R180H;ENSP00000337789:R180H	ENSP00000298877:R180H	R	+	2	0	0	SLC24A4	91979504	91979504	0.837000	0.29446	0.110000	0.21437	0.929000	0.56500	1.395000	0.34520	0.459000	0.27016	0.462000	0.41574	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.163374	1	0.170000	NM_153646			48	48		205	200	1		1			0	0	44	0		1	0	0	0	0	0	0	48	205
RIN3	79890	broad.mit.edu	37	14	93118417	93118417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	ENST00000216487.7	+	6	1182	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	341	Pro-rich.				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)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGATGACCTGCGAGAGACTCC	0.697																																						ENST00000216487.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				36						c.(1021-1023)tgC>tgT		Ras and Rab interactor 3							22.0	24.0	24.0					14																	93118417		2050	4075	6125	SO:0001819	synonymous_variant	79890	0	0					g.chr14:93118417C>T	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.1023C>T	chr14.hg19:g.93118417C>T		0					RIN3_ENST00000418924.2_3'UTR	p.C341C	NM_024832.3	NP_079108.3	0	1	1	1.986586	Q8TB24	RIN3_HUMAN		6	1182	+		all_cancers(154;0.0701)	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	1	1	hg19	c.1023C>T	CCDS32144.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1	0	0	1		16	5	2	1		1	1	60		60	60	1	2.060000	-20.000000	1	0.170000				41	40		242	238	0		1	1		1	0	60	0		9.998357e-01	9.233419e-01	0	11	0	47	0	41	242
RIN3	79890	broad.mit.edu	37	14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	559					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)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612																																						ENST00000216487.7	1.000000	0.770000	1	9.200000e-01	0.990000	0.972209	0.990000	1.000000																										0				36						c.(1675-1677)Ctg>Atg		Ras and Rab interactor 3							59.0	52.0	55.0					14																	93119069		2203	4300	6503	SO:0001583	missense	79890	0	0					g.chr14:93119069C>A	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.1675C>A	chr14.hg19:g.93119069C>A	ENSP00000216487:p.Leu559Met	0					RIN3_ENST00000418924.2_3'UTR	p.L559M	NM_024832.3	NP_079108.3	0	1	1	1.986586	Q8TB24	RIN3_HUMAN		6	1834	+		all_cancers(154;0.0701)	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	1	1	hg19	c.1675C>A	CCDS32144.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.949714|1.949714	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.06371	.|3.31	4.58|4.58	3.62|3.62	0.41486|0.41486	4.58|4.58	3.62|3.62	0.41486|0.41486	.|.	.|0.882755	.|0.09617	.|N	.|0.778156	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.971;0.94;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.751;0.641;0.85	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.19147	.|T	.|0.46	-4.07|-4.07	14.0183|14.0183	0.64539|0.64539	0.0:0.848:0.152:0.0|0.0:0.848:0.152:0.0	.|.	.|559;605;484;559	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	D|M	75|559;483	.|ENSP00000216487:L559M	.|ENSP00000216487:L559M	A|L	+|+	2|1	0|2	0|2	RIN3|RIN3	92188822|92188822	92188822|92188822	0.001000|0.001000	0.12720|0.12720	0.994000|0.994000	0.49952|0.49952	0.627000|0.627000	0.37826|0.37826	0.056000|0.056000	0.14256|0.14256	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCT|CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				31	31		297	294	0		1	1		0	0	69	0		1	9.993661e-01	0	8	0	102	0	31	297
GOLGA5	9950	broad.mit.edu	37	14	93282689	93282689	+	Missense_Mutation	SNP	C	C	T	rs34964124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93282689C>T	ENST00000163416.2	+	7	1670	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	472					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)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGAAGAACTTCGGCATGAGAA	0.443			T	RET	papillary thyroid																																	ENST00000163416.2	0.580000	0.230000	4.900000e-01	3.000000e-01	0.380000	0.399560	0.380000	0.390000				Dom	yes			Dom	yes		14	14q	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""				E	E	RET		papillary thyroid		0				9						c.(1414-1416)Cgg>Tgg		golgin A5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	119.0	119.0		1414	5.3	1.0	14	dbSNP_126	119	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	472/732	93282689	1,13005	2203	4300	6503	SO:0001583	missense	9950	4	121412	38				g.chr14:93282689C>T	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.1414C>T	chr14.hg19:g.93282689C>T	ENSP00000163416:p.Arg472Trp	0					GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	p.R472W	NM_005113.2	NP_005104	0	1	1	1.986586	Q8TBA6	GOGA5_HUMAN		7	1670	+		all_cancers(154;0.0934)	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	1	1	hg19	c.1414C>T	CCDS9905.1	0	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870146	0.72065	2.27E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.43747	D	0.000537	T	0.66426	0.2788	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.69978	-0.4998	10	0.87932	D	0	-24.7581	12.2417	0.54546	0.2881:0.7119:0.0:0.0	rs34964124	472	Q8TBA6	GOGA5_HUMAN	W	472;472;381	ENSP00000163416:R472W;ENSP00000348252:R472W	ENSP00000163416:R472W	R	+	1	2	2	GOLGA5	92352442	92352442	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	2.571000	0.45990	2.490000	0.84030	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1	0	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-2.859215	1	0.170000				18	18		532	524	0		1	1		0	0	139	0		9.999798e-01	9.996799e-01	0	15	0	373	0	18	532
CHGA	1113	broad.mit.edu	37	14	93390551	93390551	+	Silent	SNP	G	G	A	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000334654.4_Silent_p.A18A|CHGA_ENST00000553866.1_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										0				8						c.(52-54)gcG>gcA		chromogranin A (parathyroid secretory protein 1)							50.0	49.0	49.0					14																	93390551		2203	4300	6503	SO:0001819	synonymous_variant	1113	1	121388	33				g.chr14:93390551G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.54G>A	chr14.hg19:g.93390551G>A		0					CHGA_ENST00000334654.4_Silent_p.A18A|CHGA_ENST00000553866.1_Intron	p.A18A	NM_001275.3	NP_001266.1	0	1	1	1.986586	P10645	CMGA_HUMAN		2	334	+		all_cancers(154;0.0843)	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	1	1	hg19	c.54G>A	CCDS9906.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_001275			20	20		86	86	1		1	0		0	0	23	0		9.999978e-01	9.999970e-01	0	0	0	103	0	20	86
CHGA	1113	broad.mit.edu	37	14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000216492.5	+	7	1455	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				8						c.(1174-1176)cGa>cAa		chromogranin A (parathyroid secretory protein 1)		G	GLN/ARG	1,4379		0,1,2189	12.0	14.0	13.0		1175	2.9	0.1	14	dbSNP_119	13	2,8550		0,2,4274	no	missense	CHGA	NM_001275.3	43	0,3,6463	AA,AG,GG		0.0234,0.0228,0.0232	benign	392/458	93399081	3,12929	2190	4276	6466	SO:0001583	missense	1113	8	120972	35				g.chr14:93399081G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1175G>A	chr14.hg19:g.93399081G>A	ENSP00000216492:p.Arg392Gln	0					CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	p.R392Q	NM_001275.3	NP_001266.1	0	1	1	1.986586	P10645	CMGA_HUMAN		7	1455	+		all_cancers(154;0.0843)	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	1	1	hg19	c.1175G>A	CCDS9906.1	1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930877	0.18131	2.28E-4	2.34E-4	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.02197	4.4;4.4	4.71	2.86	0.33363	4.71	2.86	0.33363	.	0.400442	0.21601	N	0.071941	T	0.02119	0.0066	L	0.48642	1.525	0.09310	N	1	P;B	0.39352	0.669;0.419	B;B	0.29440	0.053;0.102	T	0.48681	-0.9014	10	0.32370	T	0.25	-1.3963	8.8796	0.35367	0.3464:0.0:0.6536:0.0	rs9658669	241;392	G5E968;P10645	.;CMGA_HUMAN	Q	392;241	ENSP00000216492:R392Q;ENSP00000334023:R241Q	ENSP00000216492:R392Q	R	+	2	0	0	CHGA	92468834	92468834	0.991000	0.36638	0.139000	0.22197	0.339000	0.28857	3.094000	0.50227	0.092000	0.17331	-1.164000	0.01763	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_001275			22	22		73	71	0		1	0		0	0	20	0		9.999995e-01	1	0	0	0	216	0	22	73
UBR7	55148	broad.mit.edu	37	14	93678410	93678410	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	RP11-371E8.4_ENST00000557048.1_3'UTR|UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	126							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328																																						ENST00000013070.6	1.000000	0.880000	1	9.900000e-01	0.990000	0.993474	0.990000	1.000000																										0				19						c.(376-378)taC>taT		ubiquitin protein ligase E3 component n-recognin 7 (putative)							82.0	78.0	80.0					14																	93678410		2203	4300	6503	SO:0001819	synonymous_variant	55148	0	0					g.chr14:93678410C>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.378C>T	chr14.hg19:g.93678410C>T		0					RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y|UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR	p.Y126Y	NM_175748.3	NP_786924.2	0	1	1	1.986586	Q8N806	UBR7_HUMAN		4	614	+			Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	0	1	hg19	c.378C>T	CCDS9909.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981241|0.981241	0.18812|0.18812	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555113|ENST00000553857	.|.	.|.	.|.	5.89|5.89	1.59|1.59	0.23543|0.23543	5.89|5.89	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58264	.|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|4	.|.	.|.	.|.	-0.6792|-0.6792	9.7459|9.7459	0.40446|0.40446	0.0:0.5626:0.0:0.4374|0.0:0.5626:0.0:0.4374	.|.	.|.	.|.	.|.	X|I	117|52	.|.	.|.	Q|T	+|+	1|2	0|0	0|0	UBR7|UBR7	92748163|92748163	92748163|92748163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.018000|1.018000	0.30002|0.30002	0.414000|0.414000	0.25790|0.25790	0.591000|0.591000	0.81541|0.81541	CAA|ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.999990	1	0.170000	NM_175748			16	16		110	107	1		1	1		0	0	21	0		9.999433e-01	9.973308e-01	0	15	0	56	0	16	110
BTBD7	55727	broad.mit.edu	37	14	93712552	93712552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	734					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468																																						ENST00000334746.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2200-2202)cgC>cgT		BTB (POZ) domain containing 7							123.0	121.0	122.0					14																	93712552		2203	4300	6503	SO:0001819	synonymous_variant	55727	2	121412	37				g.chr14:93712552G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2202C>T	chr14.hg19:g.93712552G>A		0					BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	p.R734R	NM_001002860.2	NP_001002860.2	0	1	1	1.986586	Q9P203	BTBD7_HUMAN		10	2509	-		all_cancers(154;0.08)	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	1	1	hg19	c.2202C>T	CCDS32146.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-20.000000	1	0.170000	NM_001002860			101	98		627	581	1		1	1		0	0	125	0		1	9.705758e-01	0	8	0	29	0	101	627
BTBD7	55727	broad.mit.edu	37	14	93730244	93730244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93730244G>A	ENST00000334746.5	-	4	1565	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	420	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAGCTTGTCGGTGCACCCAT	0.428																																						ENST00000334746.5	0.710000	0.280000	6.000000e-01	3.700000e-01	0.470000	0.490288	0.470000	0.460000																										0				35						c.(1258-1260)Cga>Tga		BTB (POZ) domain containing 7							139.0	127.0	131.0					14																	93730244		2203	4300	6503	SO:0001587	stop_gained	55727	0	0					g.chr14:93730244G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1258C>T	chr14.hg19:g.93730244G>A	ENSP00000335615:p.Arg420*	0					BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	p.R420*	NM_001002860.2	NP_001002860.2	0	1	1	1.986586	Q9P203	BTBD7_HUMAN		4	1565	-		all_cancers(154;0.08)	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	0	1	hg19	c.1258C>T	CCDS32146.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.793190	0.98492	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	.	.	.	4.99	2.87	0.33458	4.99	2.87	0.33458	.	0.055019	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.747	0.57287	0.0:0.1175:0.7463:0.1362	.	.	.	.	X	420;69	.	ENSP00000335615:R420X	R	-	1	2	2	BTBD7	92799997	92799997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	1.100000	0.41517	0.558000	0.71614	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	0	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-2.417913	0	0.170000	NM_001002860			17	16		406	396	0		1	1		0	0	104	0		9.999578e-01	6.038259e-01	0	3	0	46	0	17	406
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453																																					GBM(134;630 1800 8342 13106 15419)	ENST00000342144.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T53T(1)	lung(1)	5						c.(157-159)acG>acA		cytochrome c oxidase subunit VIIIC							190.0	137.0	155.0					14																	93814406		2203	4300	6503	SO:0001819	synonymous_variant	341947	0	0					g.chr14:93814406G>A	AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"""Mitochondrial respiratory chain complex / Complex IV"""	24382	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIII isoform 3"""		"""cytochrome c oxidase subunit 8C"""			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.159G>A	chr14.hg19:g.93814406G>A		0					UNC79_ENST00000256339.4_Intron	p.T53T	NM_182971.2	NP_892016.1	0	1	1	1.986586	Q7Z4L0	COX8C_HUMAN		2	237	+		all_cancers(154;0.083)	Q495K7	Silent	SNP	ENST00000342144.2	1	1	hg19	c.159G>A	CCDS9910.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.547953	1	0.170000	NM_182971			60	60		250	245	1		1	0		0	0	62	0		1	1.739930e-01	0	1	0	3	0	60	250
PRIMA1	145270	broad.mit.edu	37	14	94187802	94187802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557																																						ENST00000393140.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(448-450)aaC>aaT		proline rich membrane anchor 1							131.0	92.0	105.0					14																	94187802		2203	4300	6503	SO:0001819	synonymous_variant	145270	4	121412	34				g.chr14:94187802G>A		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.450C>T	chr14.hg19:g.94187802G>A		0					PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N150N	p.N150N	NM_178013.3	NP_821092.1	0	1	1	1.986586	Q86XR5	PRIMA_HUMAN		5	552	-		all_cancers(154;0.127)	Q86XR6	Silent	SNP	ENST00000393140.1	1	1	hg19	c.450C>T	CCDS9912.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_178013			48	47		171	168	1		1			0	0	27	0		1	0	0	0	0	0	0	48	171
FAM181A	90050	broad.mit.edu	37	14	94395237	94395237	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V	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	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622																																						ENST00000267594.5	1.000000	0.710000	1	8.900000e-01	0.990000	0.961738	0.990000	1.000000																										0				18						c.(790-792)gtC>gtA		family with sequence similarity 181, member A							53.0	51.0	51.0					14																	94395237		2203	4300	6503	SO:0001819	synonymous_variant	90050	0	0					g.chr14:94395237C>A	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.792C>A	chr14.hg19:g.94395237C>A		0					FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A-AS1_ENST00000554742.1_RNA	p.V264V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	0	1	1	1.986586	Q8N9Y4	F181A_HUMAN		3	1099	+			B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	0	1	hg19	c.792C>A	CCDS9914.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_138344			20	19		190	186	0		1			0	0	23	0		9.999954e-01	0	0	0	0	0	0	20	190
ASB2	51676	broad.mit.edu	37	14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000315988.4	-	4	1065	c.577G>A	c.(577-579)Gct>Act	p.A193T	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.A241T	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	193					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622																																						ENST00000315988.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.996462	0.990000	1.000000																										0				27						c.(577-579)Gct>Act		ankyrin repeat and SOCS box containing 2							74.0	60.0	64.0					14																	94417504		2203	4300	6503	SO:0001583	missense	51676	1	121406	30				g.chr14:94417504C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.577G>A	chr14.hg19:g.94417504C>T	ENSP00000320675:p.Ala193Thr	0					ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.A241T|MIR4506_ENST00000584693.1_RNA	p.A193T	NM_016150.4	NP_057234.2	0	1	1	1.986586	Q96Q27	ASB2_HUMAN		4	1065	-		all_cancers(154;0.13)	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	1	1	hg19	c.577G>A	CCDS9915.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203926	0.79127	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.42	5.62	5.62	0.85841	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.052587	0.85682	D	0.000000	D	0.83408	0.5248	M	0.62154	1.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.84003	0.0344	10	0.66056	D	0.02	-21.6007	19.6758	0.95932	0.0:1.0:0.0:0.0	.	209;241;193	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	241;209;193;139;139;87	ENSP00000451575:A241T;ENSP00000320675:A193T;ENSP00000450940:A139T;ENSP00000451694:A87T	ENSP00000320675:A193T	A	-	1	0	0	ASB2	93487257	93487257	0.998000	0.40836	0.195000	0.23364	0.494000	0.33585	3.876000	0.56115	2.644000	0.89710	0.561000	0.74099	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1	1	0	0		19	2	2	0		0	1	72		72	70	1	2.060000	-20.000000	1	0.170000				45	45		373	366	1		1	0		0	0	72	0		9.997502e-01	1.741461e-01	0	0	0	7	0	45	373
ASB2	51676	broad.mit.edu	37	14	94419708	94419708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000315988.4	-	3	968	c.480G>A	c.(478-480)ccG>ccA	p.P160P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.P208P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	160			P -> S (in dbSNP:rs2295213).		intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572																																						ENST00000315988.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(478-480)ccG>ccA		ankyrin repeat and SOCS box containing 2							103.0	113.0	109.0					14																	94419708		2203	4300	6503	SO:0001819	synonymous_variant	51676	1	121410	37				g.chr14:94419708C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.480G>A	chr14.hg19:g.94419708C>T		0					ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.P208P	p.P160P	NM_016150.4	NP_057234.2	0	1	1	1.986586	Q96Q27	ASB2_HUMAN		3	968	-		all_cancers(154;0.13)	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	1	1	hg19	c.480G>A	CCDS9915.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000				120	113		636	625	1		1	0		0	0	135	0		1	4.329679e-01	0	0	0	9	0	120	636
DDX24	57062	broad.mit.edu	37	14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000330836.5	-	5	1677	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_ENST00000555054.1_Missense_Mutation_p.A473S|DDX24_ENST00000544005.1_Missense_Mutation_p.A266S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	516	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)			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)		CGAGCAGGAGCCTGATGCACC	0.473																																						ENST00000330836.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1546-1548)Gct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 24							193.0	179.0	184.0					14																	94526811		2203	4300	6503	SO:0001583	missense	57062	0	0					g.chr14:94526811C>A	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.1546G>T	chr14.hg19:g.94526811C>A	ENSP00000328690:p.Ala516Ser	0					DDX24_ENST00000544005.1_Missense_Mutation_p.A266S|DDX24_ENST00000555054.1_Missense_Mutation_p.A473S	p.A516S	NM_020414.3	NP_065147.1	0	1	1	1.986586	Q9GZR7	DDX24_HUMAN		5	1677	-		all_cancers(154;0.12)	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	1	1	hg19	c.1546G>T	CCDS9918.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780661	0.31502	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04706	3.57;3.57;3.57	5.36	3.5	0.40072	5.36	3.5	0.40072	DEAD-like helicase (2);	0.588254	0.19785	N	0.106136	T	0.02970	0.0088	N	0.14661	0.345	0.32623	N	0.523092	B	0.22414	0.069	B	0.26614	0.071	T	0.35101	-0.9802	10	0.12430	T	0.62	-0.1179	7.8637	0.29524	0.0:0.6935:0.1462:0.1603	.	516	Q9GZR7	DDX24_HUMAN	S	516;266;461;142;473;473	ENSP00000328690:A516S;ENSP00000440623:A266S;ENSP00000452145:A473S	ENSP00000328690:A516S	A	-	1	0	0	DDX24	93596564	93596564	0.908000	0.30866	0.988000	0.46212	0.653000	0.38743	0.647000	0.24812	0.713000	0.32060	0.563000	0.77884	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_020414			143	140		672	645	1		1	1		0	0	193	0		1	1	0	90	0	424	0	143	672
DDX24	57062	broad.mit.edu	37	14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000330836.5	-	2	573	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000554544.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					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)			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)		GCAGTTTGGACCAGGTTTTCT	0.473																																						ENST00000330836.5	1.000000	0.580000	9.100000e-01	6.800000e-01	0.790000	0.799159	0.790000	1.000000																										0				23						c.(442-444)Gtc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 24							92.0	96.0	95.0					14																	94545647		2203	4300	6503	SO:0001583	missense	57062	0	0					g.chr14:94545647C>T	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.442G>A	chr14.hg19:g.94545647C>T	ENSP00000328690:p.Val148Ile	0					IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank	p.V148I	NM_020414.3	NP_065147.1	0	1	1	1.986586	Q9GZR7	DDX24_HUMAN		2	573	-		all_cancers(154;0.12)	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	1	1	hg19	c.442G>A	CCDS9918.1	0	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806722	0.16467	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03152	4.03;4.05	5.31	-3.75	0.04372	5.31	-3.75	0.04372	.	1.340160	0.04202	N	0.330315	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.44544	-0.9321	10	0.29301	T	0.29	-1.4457	1.0959	0.01673	0.1641:0.2669:0.2463:0.3226	.	148	Q9GZR7	DDX24_HUMAN	I	148;148;105;105	ENSP00000328690:V148I;ENSP00000452145:V105I	ENSP00000328690:V148I	V	-	1	0	0	DDX24	93615400	93615400	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.267000	0.08619	-0.393000	0.07739	0.650000	0.86243	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_020414			45	43		620	600	0		1	1		0	0	97	0		1	1	0	33	0	377	0	45	620
IFI27L1	122509	broad.mit.edu	37	14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000555523.1	+	4	346	c.127G>A	c.(127-129)Gca>Aca	p.A43T	IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	43						integral component of membrane (GO:0016021)				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597																																						ENST00000555523.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(127-129)Gca>Aca		interferon, alpha-inducible protein 27-like 1		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121.0	96.0	105.0		127,127	2.6	0.2	14	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense	IFI27L1	NM_145249.2,NM_206949.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	43/105,43/105	94568225	1,13005	2203	4300	6503	SO:0001583	missense	122509	2	121412	36				g.chr14:94568225G>A	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.127G>A	chr14.hg19:g.94568225G>A	ENSP00000451851:p.Ala43Thr	0					IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron	p.A43T	NM_206949.2	NP_996832.1	0	1	1	1.986586	Q96BM0	I27L1_HUMAN		4	346	+				Missense_Mutation	SNP	ENST00000555523.1	1	1	hg19	c.127G>A	CCDS9919.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739288|2.739288	0.49045|0.49045	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	3.48|3.48	2.59|2.59	0.31030|0.31030	3.48|3.48	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.91612|0.91612	3.225|3.225	0.39235|0.39235	D|D	0.963742|0.963742	P|.	0.47302|.	0.893|.	B|.	0.38842|.	0.283|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.66056|.	D|.	0.02|.	.|.	6.7502|6.7502	0.23483|0.23483	0.1294:0.0:0.8706:0.0|0.1294:0.0:0.8706:0.0	.|.	43|.	Q96BM0|.	I27L1_HUMAN|.	T|H	43;43;42;42;42;43|65	ENSP00000451851:A43T;ENSP00000376824:A43T;ENSP00000452226:A42T;ENSP00000451459:A42T;ENSP00000451608:A42T;ENSP00000450620:A43T|.	ENSP00000376824:A43T|.	A|R	+|+	1|2	0|0	0|0	IFI27L1|IFI27L1	93637978|93637978	93637978|93637978	0.997000|0.997000	0.39634|0.39634	0.239000|0.239000	0.24122|0.24122	0.000000|0.000000	0.00434|0.00434	5.284000|5.284000	0.65627|0.65627	1.063000|1.063000	0.40649|0.40649	-0.218000|-0.218000	0.12543|0.12543	GCA|CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.262380	1	0.170000	NM_206949			54	54		242	242	1		1	1		0	0	64	0		1	9.999533e-01	0	10	0	59	0	54	242
IFI27	3429	broad.mit.edu	37	14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000555744.1	+	4	386	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	66					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627																																					GBM(128;797 1667 20895 29868 47129)	ENST00000555744.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.994982	0.990000	1.000000																										0				4						c.(196-198)aaG>aaT		interferon, alpha-inducible protein 27							38.0	30.0	33.0					14																	94582203		2203	4299	6502	SO:0001583	missense	3429	0	0					g.chr14:94582203G>T	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.198G>T	chr14.hg19:g.94582203G>T	ENSP00000451956:p.Lys66Asn	0					IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000444961.1_Missense_Mutation_p.K69N	p.K66N			0	1	1	1.986586	P40305	IFI27_HUMAN		4	386	+			Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	0	1	hg19	c.198G>T	CCDS32148.1	1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859737	0.17178	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	3.52	1.67	0.24075	3.52	1.67	0.24075	.	0.553031	0.19684	N	0.108458	T	0.53351	0.1791	M	0.83692	2.655	0.39283	D	0.964603	D	0.63880	0.993	D	0.63192	0.912	T	0.55186	-0.8180	10	0.66056	D	0.02	.	5.5879	0.17285	0.2502:0.0:0.7498:0.0	.	66	P40305	IFI27_HUMAN	N	69;69;21;66;66;56;66	ENSP00000413536:K69N;ENSP00000410901:K69N;ENSP00000450753:K21N;ENSP00000451875:K66N;ENSP00000298902:K66N;ENSP00000452560:K56N;ENSP00000451956:K66N	ENSP00000298902:K66N	K	+	3	2	2	IFI27	93651956	93651956	0.001000	0.12720	0.997000	0.53966	0.032000	0.12392	-0.770000	0.04705	0.475000	0.27415	0.563000	0.77884	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-19.682250	1	0.170000	NM_005532			11	11		60	60	1		1	1		0	0	12	0		9.987863e-01	1	0	2110	0	4245	0	11	60
PPP4R4	57718	broad.mit.edu	37	14	94711935	94711935	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	452					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)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313																																						ENST00000304338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1354-1356)gcT>gcA		protein phosphatase 4, regulatory subunit 4							88.0	90.0	89.0					14																	94711935		2203	4299	6502	SO:0001819	synonymous_variant	57718	0	0					g.chr14:94711935T>A	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.1356T>A	chr14.hg19:g.94711935T>A		0						p.A452A	NM_058237.1	NP_478144.1	0	1	1	1.986586	Q6NUP7	PP4R4_HUMAN		13	1510	+			Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	1	1	hg19	c.1356T>A	CCDS9921.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-19.999990	1	0.170000	NM_058237			44	39		201	198	1		1			0	0	92	0		1	0	0	0	0	0	0	44	201
PPP4R4	57718	broad.mit.edu	37	14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	697					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)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAA	0.274																																						ENST00000304338.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999828	0.990000	1.000000																										0				40						c.(2089-2091)caA>caC		protein phosphatase 4, regulatory subunit 4							27.0	29.0	28.0					14																	94725670		2189	4287	6476	SO:0001583	missense	57718	0	0					g.chr14:94725670A>C	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.2091A>C	chr14.hg19:g.94725670A>C	ENSP00000305924:p.Gln697His	0						p.Q697H	NM_058237.1	NP_478144.1	0	1	1	1.986586	Q6NUP7	PP4R4_HUMAN		19	2245	+			Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	1	1	hg19	c.2091A>C	CCDS9921.1	1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326833	0.60743	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.09	3.76	0.43208	5.09	3.76	0.43208	.	0.217642	0.40728	N	0.001033	T	0.69424	0.3109	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71213	-0.4659	9	0.66056	D	0.02	-13.8615	7.9117	0.29796	0.8219:0.0:0.1781:0.0	.	697	Q6NUP7	PP4R4_HUMAN	H	697	.	ENSP00000305924:Q697H	Q	+	3	2	2	PPP4R4	93795423	93795423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.117000	0.41939	2.028000	0.59812	0.377000	0.23210	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-13.787620	1	0.170000	NM_058237			21	21		102	101	1		1	0		0	0	20	0		9.999987e-01	0	0	0	0	1	0	21	102
SERPINA10	51156	broad.mit.edu	37	14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A	rs370404211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000393096.1	-	2	821	c.356C>T	c.(355-357)cCg>cTg	p.P119L	SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.P159L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	119					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.001					ENST00000393096.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(355-357)cCg>cTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							49.0	50.0	50.0					14																	94756575		2203	4300	6503	SO:0001583	missense	51156	9	121412	41				g.chr14:94756575G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.356C>T	chr14.hg19:g.94756575G>A	ENSP00000376809:p.Pro119Leu	0					SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.P159L	p.P119L	NM_016186.2	NP_057270.1	0	1	1	1.986586	Q9UK55	ZPI_HUMAN		2	821	-		all_cancers(154;0.105)	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	1	1	hg19	c.356C>T	CCDS9923.1	1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965782	0.02249	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.12	-1.12	0.09808	4.12	-1.12	0.09808	Serpin domain (3);	1.226040	0.05781	N	0.608681	T	0.81361	0.4806	L	0.42245	1.32	0.09310	N	1	B	0.21606	0.058	B	0.08055	0.003	T	0.64449	-0.6405	10	0.45353	T	0.12	.	8.1594	0.31190	0.125:0.0:0.4412:0.4338	.	119	Q9UK55	ZPI_HUMAN	L	159;119;119;119	ENSP00000450896:P159L;ENSP00000376809:P119L;ENSP00000261994:P119L;ENSP00000450971:P119L	ENSP00000261994:P119L	P	-	2	0	0	SERPINA10	93826328	93826328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.410000	0.07542	-2.087000	0.00375	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.443623	1	0.170000	NM_016186			54	51		241	240	1		1	0		0	0	55	0		1	0	0	0	0	1	0	54	241
SERPINA6	866	broad.mit.edu	37	14	94770780	94770780	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94770780A>G	ENST00000341584.3	-	5	1339	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	398					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACCCTCGCCAGGAAAAGGCT	0.532																																						ENST00000341584.3	0.560000	0.160000	4.500000e-01	2.400000e-01	0.330000	0.348188	0.330000	0.310000																										0				26						c.(1192-1194)cTg>cCg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						139.0	121.0	127.0					14																	94770780		2203	4300	6503	SO:0001583	missense	866	0	0					g.chr14:94770780A>G	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1193T>C	chr14.hg19:g.94770780A>G	ENSP00000342850:p.Leu398Pro	0						p.L398P	NM_001756.3	NP_001747	0	1	1	1.986586	P08185	CBG_HUMAN		5	1339	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	0	1	hg19	c.1193T>C	CCDS9924.1	0	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669831	0.47677	.	.	ENSG00000170099	ENST00000341584	D	0.85629	-2.01	4.83	4.83	0.62350	4.83	4.83	0.62350	Serpin domain (3);	0.409870	0.20102	N	0.099210	D	0.93687	0.7983	M	0.93062	3.375	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.87932	D	0	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	398	P08185	CBG_HUMAN	P	398	ENSP00000342850:L398P	ENSP00000342850:L398P	L	-	2	0	0	SERPINA6	93840533	93840533	0.995000	0.38212	0.077000	0.20336	0.133000	0.20885	6.149000	0.71795	2.164000	0.68074	0.533000	0.62120	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	0	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-3.291677	1	0.170000	NM_001756			10	10		353	347	0		1	0		0	0	69	0		9.967127e-01	2.840268e-01	0	0	0	35	0	10	353
SERPINA1	5265	broad.mit.edu	37	14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C	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	268					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)			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)		ATTGCCCAGGTATTTCATCAG	0.507																																						ENST00000448921.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(802-804)tAc>tGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1							139.0	118.0	125.0					14																	94847322		2203	4300	6503	SO:0001583	missense	5265	0	0					g.chr14:94847322T>C	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.803A>G	chr14.hg19:g.94847322T>C	ENSP00000416066:p.Tyr268Cys	0					SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C	p.Y268C	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	0	1	1	1.986586	P01009	A1AT_HUMAN		5	1375	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	1	1	hg19	c.803A>G	CCDS9925.1	1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433713	0.43224	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.05	5.05	0.67936	5.05	5.05	0.67936	Serpin domain (3);	0.197104	0.35179	N	0.003382	D	0.95326	0.8483	M	0.93638	3.44	0.48830	D	0.999713	D;D	0.56521	0.97;0.976	P;D	0.63793	0.809;0.918	D	0.96388	0.9287	10	0.87932	D	0	.	14.0833	0.64939	0.0:0.0:0.0:1.0	.	268;268	P01009-2;P01009	.;A1AT_HUMAN	C	268	ENSP00000390299:Y268C;ENSP00000416066:Y268C;ENSP00000408474:Y268C;ENSP00000348068:Y268C;ENSP00000376802:Y268C;ENSP00000376803:Y268C;ENSP00000385960:Y268C;ENSP00000416354:Y268C;ENSP00000386094:Y268C	ENSP00000348068:Y268C	Y	-	2	0	0	SERPINA1	93917075	93917075	1.000000	0.71417	0.076000	0.20297	0.163000	0.22366	3.694000	0.54742	2.051000	0.60960	0.374000	0.22700	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_001002235			56	55		299	295	1		1	1		0	0	72	0		1	1	0	2071	0	5272	0	56	299
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000380365.3	-	3	944	c.866G>A	c.(865-867)aGa>aAa	p.R289K	SERPINA9_ENST00000337425.5_Missense_Mutation_p.R307K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537																																						ENST00000380365.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(865-867)aGa>aAa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							113.0	108.0	110.0					14																	94933482		2001	4197	6198	SO:0001583	missense	327657	0	0					g.chr14:94933482C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.866G>A	chr14.hg19:g.94933482C>T	ENSP00000369723:p.Arg289Lys	0					SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R307K|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K	p.R289K			0	1	1	1.986586	Q86WD7	SPA9_HUMAN		3	944	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	1	1	hg19	c.866G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243737	0.22796	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.89	1.83	0.25207	3.89	1.83	0.25207	Serpin domain (3);	0.695785	0.13348	N	0.394612	T	0.63827	0.2544	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.0;0.0;0.0;0.012	B;B;B;B;B	0.14023	0.007;0.004;0.001;0.003;0.01	T	0.49351	-0.8949	10	0.25106	T	0.35	.	4.7624	0.13115	0.0:0.4258:0.4239:0.1503	.	271;289;209;307;207	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	K	209;207;158;307;289;271	ENSP00000414092:R209K;ENSP00000298845:R207K;ENSP00000409012:R158K;ENSP00000337133:R307K;ENSP00000369723:R289K;ENSP00000445476:R271K	ENSP00000298845:R207K	R	-	2	0	0	SERPINA9	94003235	94003235	0.000000	0.05858	0.055000	0.19348	0.965000	0.64279	0.080000	0.14802	0.972000	0.38314	0.462000	0.41574	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.381584	1	0.170000	NM_175739			59	59		278	268	1		1			0	0	80	0		1	0	0	0	0	0	0	59	278
SERPINA9	327657	broad.mit.edu	37	14	94935809	94935809	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000380365.3	-	2	447	c.369T>C	c.(367-369)gtT>gtC	p.V123V	SERPINA9_ENST00000337425.5_Silent_p.V141V|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	123					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTGCTGGGAACAGTCAGTG	0.547																																						ENST00000380365.3	0.380000	0.140000	3.200000e-01	1.800000e-01	0.240000	0.255691	0.240000	0.240000																										0				21						c.(367-369)gtT>gtC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							126.0	127.0	126.0					14																	94935809		2068	4222	6290	SO:0001819	synonymous_variant	327657	0	0					g.chr14:94935809A>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.369T>C	chr14.hg19:g.94935809A>G		0					SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000337425.5_Silent_p.V141V|SERPINA9_ENST00000298845.7_Intron	p.V123V			0	1	1	1.986586	Q86WD7	SPA9_HUMAN		2	447	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	1	1	hg19	c.369T>C		0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-11.588920	1	0.170000	NM_175739			15	15		711	690	0		1			0	0	131	0		9.998392e-01	0	0	0	0	0	0	15	711
SERPINA12	145264	broad.mit.edu	37	14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	290					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		GGAGAAAGTGTCCACCTGCAA	0.478																																						ENST00000341228.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(868-870)gAc>gGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							172.0	164.0	167.0					14																	94962746		2203	4300	6503	SO:0001583	missense	145264	0	0					g.chr14:94962746T>C	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.869A>G	chr14.hg19:g.94962746T>C	ENSP00000342109:p.Asp290Gly	0					SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	p.D290G	NM_173850.2	NP_776249.1	0	1	1	1.986586	Q8IW75	SPA12_HUMAN		4	1664	-				Missense_Mutation	SNP	ENST00000341228.2	1	1	hg19	c.869A>G	CCDS9926.1	1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805753	0.31961	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	5.46	5.46	0.80206	Serpin domain (3);	0.373627	0.25804	N	0.028183	T	0.81922	0.4925	M	0.62088	1.915	0.24392	N	0.994748	B	0.30068	0.267	B	0.34722	0.188	T	0.73799	-0.3869	10	0.41790	T	0.15	.	5.974	0.19369	0.1464:0.0786:0.0:0.775	.	290	Q8IW75	SPA12_HUMAN	G	290	ENSP00000451738:D290G;ENSP00000342109:D290G	ENSP00000342109:D290G	D	-	2	0	0	SERPINA12	94032499	94032499	0.155000	0.22806	0.026000	0.17262	0.005000	0.04900	3.341000	0.52151	2.074000	0.62210	0.459000	0.35465	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_173850			112	111		456	442	1		1			0	0	133	0		1	0	0	0	0	0	0	112	456
SERPINA5	5104	broad.mit.edu	37	14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000554866.1	+	2	568	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	152					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532																																						ENST00000554866.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(454-456)Ctg>Atg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						93.0	79.0	84.0					14																	95054153		2203	4300	6503	SO:0001583	missense	5104	0	0					g.chr14:95054153C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.454C>A	chr14.hg19:g.95054153C>A	ENSP00000451126:p.Leu152Met	0					SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M	p.L152M			0	1	1	1.986586	P05154	IPSP_HUMAN		2	568	+			Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	1	1	hg19	c.454C>A	CCDS9928.1	1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308874	0.40895	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	3.74	-2.4	0.06583	3.74	-2.4	0.06583	Serpin domain (3);	0.443348	0.18646	N	0.135143	D	0.84754	0.5542	M	0.65320	2	0.09310	N	1	B;P	0.45212	0.263;0.853	B;P	0.54924	0.258;0.764	T	0.76247	-0.3029	10	0.66056	D	0.02	.	4.7179	0.12904	0.4759:0.2975:0.0:0.2266	.	152;152	G3V5Q9;P05154	.;IPSP_HUMAN	M	152;152;152;152;152;152;4;76;152;152	ENSP00000450484:L152M;ENSP00000450837:L152M;ENSP00000452469:L152M;ENSP00000451126:L152M;ENSP00000333203:L152M;ENSP00000450745:L152M;ENSP00000451610:L152M;ENSP00000450485:L152M	ENSP00000333203:L152M	L	+	1	2	2	SERPINA5	94123906	94123906	0.000000	0.05858	0.042000	0.18584	0.019000	0.09904	-0.517000	0.06275	-0.244000	0.09639	-1.383000	0.01170	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_000624			48	46		208	204	1		1	1		0	0	51	0		1	1	0	19	0	154	0	48	208
SERPINA5	5104	broad.mit.edu	37	14	95054179	95054179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000554866.1	+	2	594	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000329597.7_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	160					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512																																						ENST00000554866.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				36						c.(478-480)acC>acT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						87.0	77.0	80.0					14																	95054179		2203	4300	6503	SO:0001819	synonymous_variant	5104	0	0					g.chr14:95054179C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.480C>T	chr14.hg19:g.95054179C>T		0					SERPINA5_ENST00000554276.1_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000329597.7_Silent_p.T160T	p.T160T			0	1	1	1.986586	P05154	IPSP_HUMAN		2	594	+			Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	1	1	hg19	c.480C>T	CCDS9928.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-2.883700	1	0.170000	NM_000624			45	45		261	255	1		1	1		0	0	52	0		1	1	0	30	0	144	0	45	261
SERPINA5	5104	broad.mit.edu	37	14	95056472	95056472	+	Silent	SNP	C	C	T	rs369065976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000554866.1	+	3	828	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000329597.7_Silent_p.R238R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000554276.1_Silent_p.R238R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	238					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567																																						ENST00000554866.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(712-714)cgC>cgT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	C		0,4406		0,0,2203	86.0	78.0	81.0		714	-9.4	0.0	14		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINA5	NM_000624.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/407	95056472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5104	8	121412	42				g.chr14:95056472C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.714C>T	chr14.hg19:g.95056472C>T		0					SERPINA5_ENST00000554276.1_Silent_p.R238R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000329597.7_Silent_p.R238R	p.R238R			0	1	1	1.986586	P05154	IPSP_HUMAN		3	828	+			Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	1	1	hg19	c.714C>T	CCDS9928.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_000624			41	40		193	190	1		1	1		0	0	48	0		1	1	0	40	0	180	0	41	193
SERPINA3	12	broad.mit.edu	37	14	95090073	95090073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000467132.1	+	5	2342	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					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)			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)		TCAACAGGCCCTTCCTGATGA	0.498																																						ENST00000467132.1	0.350000	0.110000	2.900000e-01	1.500000e-01	0.210000	0.226604	0.210000	0.210000																										0				40						c.(1192-1194)ccC>ccA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							209.0	180.0	190.0					14																	95090073		2203	4300	6503	SO:0001819	synonymous_variant	12	0	0					g.chr14:95090073C>A	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.1194C>A	chr14.hg19:g.95090073C>A		0					RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.P180P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P	p.P398P			0	1	1	1.986586	P01011	AACT_HUMAN		5	2342	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	0	1	hg19	c.1194C>A	CCDS32150.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	0	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-2.544705	1	0.170000	NM_001085			12	12		653	645	0		1	1		0	0	127	0		9.990546e-01	1	0	200	0	7461	0	12	653
DICER1	23405	broad.mit.edu	37	14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1759	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(5275-5277)aAa>aGa		dicer 1, ribonuclease type III		T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	145.0	135.0	138.0		5276,5276,5276	5.3	0.7	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	26,26,26	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	1759/1830,1759/1923,1759/1923	95560313	2,13004	2203	4300	6503	SO:0001583	missense	23405	6	121412	44	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95560313T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5276A>G	chr14.hg19:g.95560313T>C	ENSP00000437256:p.Lys1759Arg	0					DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527416.2_5'Flank	p.K1759R			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		26	5567	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.5276A>G	CCDS9931.1	1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893633	0.52121	2.27E-4	1.16E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	N	0.04994	-0.135	0.80722	D	1	B;D	0.76494	0.301;0.999	B;D	0.83275	0.144;0.996	T	0.65479	-0.6158	10	0.02654	T	1	-26.0429	15.2459	0.73507	0.0:0.0:0.0:1.0	.	657;1759	B3KRG4;Q9UPY3	.;DICER_HUMAN	R	1759;1759;1759;1759;657;1759	ENSP00000343745:K1759R;ENSP00000437256:K1759R;ENSP00000376783:K1759R;ENSP00000435681:K1759R;ENSP00000451041:K657R;ENSP00000444719:K1759R	ENSP00000343745:K1759R	K	-	2	0	0	DICER1	94630066	94630066	1.000000	0.71417	0.738000	0.30950	0.984000	0.73092	7.630000	0.83225	1.998000	0.58463	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				116	115		484	476	1		1	1		0	0	91	0		1	1	0	15	0	91	0	116	484
DICER1	23405	broad.mit.edu	37	14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1368	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(4102-4104)cGc>cAc		dicer 1, ribonuclease type III							148.0	139.0	142.0					14																	95566220		2203	4300	6503	SO:0001583	missense	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95566220C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4103G>A	chr14.hg19:g.95566220C>T	ENSP00000437256:p.Arg1368His	0					DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H	p.R1368H			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		24	4394	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.4103G>A	CCDS9931.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941045	0.92526	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	5.91	5.91	0.95273	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.989	T	0.74435	-0.3666	10	0.15952	T	0.53	-18.6466	20.2985	0.98592	0.0:1.0:0.0:0.0	.	266;1368;1368	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1368;1368;1368;1368;266;1368	ENSP00000343745:R1368H;ENSP00000437256:R1368H;ENSP00000376783:R1368H;ENSP00000435681:R1368H;ENSP00000451041:R266H;ENSP00000444719:R1368H	ENSP00000343745:R1368H	R	-	2	0	0	DICER1	94635973	94635973	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	0	0	1		2	5	2	1		1	0	103		103	101	1	2.060000	-3.115446	1	0.170000				90	88		386	374	1		1	1		1	0	103	0		1	9.979271e-01	0	15	0	56	0	90	386
DICER1	23405	broad.mit.edu	37	14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G	rs527872690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1249					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(3745-3747)aAa>aCa		dicer 1, ribonuclease type III							147.0	137.0	140.0					14																	95569987		2203	4300	6503	SO:0001583	missense	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95569987T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3746A>C	chr14.hg19:g.95569987T>G	ENSP00000437256:p.Lys1249Thr	0					DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T	p.K1249T			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		23	4037	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.3746A>C	CCDS9931.1	1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220878	0.39201	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.88046	0.3;0.3;0.3;0.3;-2.33;0.61	5.42	-10.7	0.00240	5.42	-10.7	0.00240	.	1.103310	0.06649	N	0.762409	T	0.69278	0.3093	N	0.08118	0	0.32462	N	0.543931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46624	-0.9178	10	0.16420	T	0.52	-0.1329	14.2372	0.65934	0.0:0.1201:0.6567:0.2232	.	147;1249;1249	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	T	1249;1249;1249;1249;147;1249	ENSP00000343745:K1249T;ENSP00000437256:K1249T;ENSP00000376783:K1249T;ENSP00000435681:K1249T;ENSP00000451041:K147T;ENSP00000444719:K1249T	ENSP00000343745:K1249T	K	-	2	0	0	DICER1	94639740	94639740	0.926000	0.31397	0.456000	0.27044	0.997000	0.91878	-0.044000	0.12023	-2.268000	0.00685	0.459000	0.35465	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000				109	109		485	478	1		1	1		0	0	125	0		1	9.999743e-01	0	6	0	63	0	109	485
DICER1	23405	broad.mit.edu	37	14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1080					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGACTCCCACGCCAGCATCG	0.488			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	0.750000	0.370000	6.500000e-01	4.500000e-01	0.540000	0.559567	0.540000	0.550000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(3238-3240)Gtg>Atg		dicer 1, ribonuclease type III							97.0	100.0	99.0					14																	95571439		2203	4300	6503	SO:0001583	missense	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95571439C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3238G>A	chr14.hg19:g.95571439C>T	ENSP00000437256:p.Val1080Met	0					DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M	p.V1080M			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		22	3529	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.3238G>A	CCDS9931.1	0	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539243	0.85917	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.4	5.65	4.74	0.60224	5.65	4.74	0.60224	.	0.059006	0.64402	D	0.000002	T	0.69024	0.3065	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.72207	-0.4360	10	0.62326	D	0.03	-15.7828	16.3846	0.83500	0.0:0.868:0.132:0.0	.	1080	Q9UPY3	DICER_HUMAN	M	1080	ENSP00000343745:V1080M;ENSP00000437256:V1080M;ENSP00000376783:V1080M;ENSP00000435681:V1080M;ENSP00000444719:V1080M	ENSP00000343745:V1080M	V	-	1	0	0	DICER1	94641192	94641192	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.786000	0.85741	1.343000	0.45638	0.462000	0.41574	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-5.390032	1	0.170000				29	29		592	583	0		1	1		0	0	132	0		1	7.608932e-01	0	3	0	55	0	29	592
DICER1	23405	broad.mit.edu	37	14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	944	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(2830-2832)cGa>cAa		dicer 1, ribonuclease type III							73.0	78.0	76.0					14																	95572534		2203	4300	6503	SO:0001583	missense	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95572534C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2831G>A	chr14.hg19:g.95572534C>T	ENSP00000437256:p.Arg944Gln	0					DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q	p.R944Q			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		20	3122	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.2831G>A	CCDS9931.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452143	0.84209	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.55	5.55	0.83447	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00308	-1.1829	10	0.30078	T	0.28	-9.8467	19.5062	0.95116	0.0:1.0:0.0:0.0	.	944	Q9UPY3	DICER_HUMAN	Q	944	ENSP00000343745:R944Q;ENSP00000437256:R944Q;ENSP00000376783:R944Q;ENSP00000435681:R944Q;ENSP00000444719:R944Q	ENSP00000343745:R944Q	R	-	2	0	0	DICER1	94642287	94642287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.604000	0.88044	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.086790	1	0.170000				73	73		375	368	1		1	1		0	0	73	0		1	9.902038e-01	0	4	0	35	0	73	375
DICER1	23405	broad.mit.edu	37	14	95582075	95582075	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000393063.1_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000343455.3_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	612					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(1834-1836)ccA>ccG		dicer 1, ribonuclease type III							252.0	191.0	212.0					14																	95582075		2203	4300	6503	SO:0001819	synonymous_variant	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95582075T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1836A>G	chr14.hg19:g.95582075T>C		0					DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P	p.P612P			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		13	2127	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	1	1	hg19	c.1836A>G	CCDS9931.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				88	82		344	340	1		1	1		0	0	79	0		1	9.999424e-01	0	9	0	49	0	88	344
DICER1	23405	broad.mit.edu	37	14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	328	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTGTAGTTCTCTTACCATC	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	0.710000	0.300000	6.000000e-01	3.800000e-01	0.480000	0.497360	0.480000	0.480000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(982-984)Gaa>Taa		dicer 1, ribonuclease type III							95.0	94.0	94.0					14																	95590927		2203	4300	6503	SO:0001587	stop_gained	23405	0	0		Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95590927C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.982G>T	chr14.hg19:g.95590927C>A	ENSP00000437256:p.Glu328*	0					DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*	p.E328*			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		10	1273	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	0	1	hg19	c.982G>T	CCDS9931.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.909045	0.98998	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.7842	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000343745:E328X	E	-	1	0	0	DICER1	94660680	94660680	1.000000	0.71417	0.656000	0.29637	0.992000	0.81027	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-4.465050	1	0.170000				19	19		445	435	0		1	0		0	0	96	0		9.999891e-01	5.454104e-01	0	1	0	42	0	19	445
DICER1	23405	broad.mit.edu	37	14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000393063.1_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000343455.3_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	155	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1	1.000000	0.680000	1	8.900000e-01	0.990000	0.960777	0.990000	1.000000			yes	Rec	yes	Familial Pleuropulmonary Blastoma	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	14q32.13	23405	Mis F, N	"""dicer 1, ribonuclease type III """				"""E, M, O"""	E, M, O		pleuropulmonary blastoma	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma		0				75						c.(463-465)Gcc>Acc		dicer 1, ribonuclease type III							87.0	73.0	77.0					14																	95596505		2203	4300	6503	SO:0001583	missense	23405	1	121410	30	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	g.chr14:95596505C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.463G>A	chr14.hg19:g.95596505C>T	ENSP00000437256:p.Ala155Thr	0					DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T	p.A155T			0	1	1	1.986586	Q9UPY3	DICER_HUMAN		7	754	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	1	1	hg19	c.463G>A	CCDS9931.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395293	0.62066	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.84	5.84	0.93424	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142483	0.64402	D	0.000005	T	0.11879	0.0289	N	0.17082	0.46	0.41634	D	0.98903	P	0.37663	0.604	B	0.32980	0.156	T	0.05767	-1.0865	10	0.87932	D	0	-14.1645	14.9169	0.70805	0.1431:0.8569:0.0:0.0	.	155	Q9UPY3	DICER_HUMAN	T	155	ENSP00000343745:A155T;ENSP00000437256:A155T;ENSP00000376783:A155T;ENSP00000435681:A155T;ENSP00000444719:A155T	ENSP00000343745:A155T	A	-	1	0	0	DICER1	94666258	94666258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	2.753000	0.94483	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-7.917590	1	0.170000				15	15		137	136	1		1	1		0	0	30	0		9.998943e-01	9.584699e-01	0	10	0	42	0	15	137
ATG2B	55102	broad.mit.edu	37	14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1814					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)				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)		AACTTCTGACGTGAATCTAAA	0.308																																						ENST00000359933.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(5440-5442)aCg>aTg		autophagy related 2B							115.0	117.0	117.0					14																	96758421		2203	4300	6503	SO:0001583	missense	55102	0	0					g.chr14:96758421G>A	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.5441C>T	chr14.hg19:g.96758421G>A	ENSP00000353010:p.Thr1814Met	0					ATG2B_ENST00000261834.5_5'UTR	p.T1814M	NM_018036.5	NP_060506	0	1	1	1.986586	Q96BY7	ATG2B_HUMAN		37	6334	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	1	1	hg19	c.5441C>T	CCDS9944.2	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944723	0.73672	.	.	ENSG00000066739	ENST00000359933	T	0.10960	2.82	5.14	3.31	0.37934	5.14	3.31	0.37934	.	0.050873	0.85682	D	0.000000	T	0.25082	0.0609	L	0.56769	1.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.00579	-1.1661	10	0.32370	T	0.25	.	10.3739	0.44071	0.1366:0.0:0.8634:0.0	.	1814	Q96BY7	ATG2B_HUMAN	M	1814	ENSP00000353010:T1814M	ENSP00000261834:T458M	T	-	2	0	0	ATG2B	95828174	95828174	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	4.832000	0.62759	0.652000	0.30806	0.655000	0.94253	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_018036			63	62		317	310	1		1	1		0	0	77	0		1	9.992151e-01	0	10	0	45	0	63	317
ATG2B	55102	broad.mit.edu	37	14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1355					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)				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)		ATTCATTAACGCAGCACAAGA	0.458																																						ENST00000359933.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(4063-4065)gCg>gTg		autophagy related 2B							186.0	176.0	179.0					14																	96777551		2203	4300	6503	SO:0001583	missense	55102	1	121412	32				g.chr14:96777551G>A	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.4064C>T	chr14.hg19:g.96777551G>A	ENSP00000353010:p.Ala1355Val	0					ATG2B_ENST00000261834.5_5'UTR	p.A1355V	NM_018036.5	NP_060506	0	1	1	1.986586	Q96BY7	ATG2B_HUMAN		28	4957	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	1	1	hg19	c.4064C>T	CCDS9944.2	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968575	0.74131	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.104808	0.64402	D	0.000004	T	0.40645	0.1125	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.30854	T	0.27	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1355	Q96BY7	ATG2B_HUMAN	V	1355	ENSP00000353010:A1355V	ENSP00000353010:A1355V	A	-	2	0	0	ATG2B	95847304	95847304	1.000000	0.71417	0.881000	0.34555	0.567000	0.35839	9.134000	0.94467	2.576000	0.86940	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1		2	2	2	1		1	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_018036			117	116		528	521	1		1	0		1	0	154	0		1	9.854710e-01	0	1	0	31	0	117	528
ATG2B	55102	broad.mit.edu	37	14	96789073	96789073	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						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)				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)		CAGTACAATTCTGATAGCAAA	0.358																																						ENST00000359933.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.e17-1		autophagy related 2B							94.0	85.0	88.0					14																	96789073		1839	4092	5931	SO:0001630	splice_region_variant	55102	0	0					g.chr14:96789073C>A	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.2541-1G>T	chr14.hg19:g.96789073C>A		0					snoU13_ENST00000458931.1_RNA		NM_018036.5	NP_060506	0	1	1	1.986586	Q96BY7	ATG2B_HUMAN		17	3434	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	SNP	ENST00000359933.4	1	1	hg19		CCDS9944.2	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516160	0.64634	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ATG2B	95858826	95858826	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.270000	0.78493	2.679000	0.91253	0.655000	0.94253	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.523648	1	0.170000	NM_018036	Intron		48	47		204	200	1		1			0	0	41	0		1	0	0	0	0	0	0	48	204
ATG2B	55102	broad.mit.edu	37	14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	652					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)				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)		CTATTCTCAGAATGCTTATAA	0.333																																						ENST00000359933.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				64						c.(1954-1956)Tct>Gct		autophagy related 2B							69.0	64.0	65.0					14																	96795031		1800	4077	5877	SO:0001583	missense	55102	0	0					g.chr14:96795031A>C	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.1954T>G	chr14.hg19:g.96795031A>C	ENSP00000353010:p.Ser652Ala	0						p.S652A	NM_018036.5	NP_060506	0	1	1	1.986586	Q96BY7	ATG2B_HUMAN		13	2847	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	1	1	hg19	c.1954T>G	CCDS9944.2	1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716959	0.48622	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.549872	0.16658	U	0.204891	T	0.15478	0.0373	M	0.62723	1.935	0.33735	D	0.618764	B	0.10296	0.003	B	0.06405	0.002	T	0.06752	-1.0809	10	0.30854	T	0.27	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	652	Q96BY7	ATG2B_HUMAN	A	652	ENSP00000353010:S652A	ENSP00000353010:S652A	S	-	1	0	0	ATG2B	95864784	95864784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.243000	0.73865	0.482000	0.46254	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_018036			47	45		258	258	1		1	1		0	0	69	0		1	9.468381e-01	0	6	0	23	0	47	258
ATG2B	55102	broad.mit.edu	37	14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	80					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)				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)		CATGGAACTGACAGGGAAATT	0.458																																						ENST00000359933.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				64						c.(238-240)Tca>Cca		autophagy related 2B							98.0	97.0	97.0					14																	96813603		1966	4172	6138	SO:0001583	missense	55102	0	0					g.chr14:96813603A>G	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.238T>C	chr14.hg19:g.96813603A>G	ENSP00000353010:p.Ser80Pro	0						p.S80P	NM_018036.5	NP_060506	0	1	1	1.986586	Q96BY7	ATG2B_HUMAN		2	1131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	1	1	hg19	c.238T>C	CCDS9944.2	1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720166	0.68844	.	.	ENSG00000066739	ENST00000359933	D	0.83163	-1.69	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.082874	0.49916	U	0.000134	D	0.88923	0.6569	M	0.71581	2.175	0.45227	D	0.998237	D	0.60575	0.988	P	0.59357	0.856	D	0.89978	0.4098	10	0.62326	D	0.03	.	15.3981	0.74812	1.0:0.0:0.0:0.0	.	80	Q96BY7	ATG2B_HUMAN	P	80	ENSP00000353010:S80P	ENSP00000353010:S80P	S	-	1	0	0	ATG2B	95883356	95883356	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.667000	0.68067	2.046000	0.60703	0.459000	0.35465	TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-16.839820	1	0.170000	NM_018036			32	32		183	182	1		1	1		0	0	37	0		1	5.086915e-01	0	2	0	9	0	32	183
AK7	122481	broad.mit.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A	rs373883064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433																																						ENST00000267584.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				31						c.(322-324)cGc>cAc		adenylate kinase 7							93.0	87.0	89.0					14																	96871122		2203	4300	6503	SO:0001583	missense	122481	5	121412	35				g.chr14:96871122G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.323G>A	chr14.hg19:g.96871122G>A	ENSP00000267584:p.Arg108His	0					AK7_ENST00000554313.1_3'UTR	p.R108H	NM_152327.3	NP_689540.2	0	1	1	1.986586	Q96M32	KAD7_HUMAN		3	367	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	1	1	hg19	c.323G>A	CCDS9945.1	1	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	0	AK7	95940875	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.194413	1	0.170000				38	38		190	187	1		1	1		0	0	47	0		1	9.600503e-01	0	11	0	17	0	38	190
AK7	122481	broad.mit.edu	37	14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	168					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343																																						ENST00000267584.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(502-504)gaT>gaG		adenylate kinase 7							64.0	67.0	66.0					14																	96887164		2203	4300	6503	SO:0001583	missense	122481	0	0					g.chr14:96887164T>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.504T>G	chr14.hg19:g.96887164T>G	ENSP00000267584:p.Asp168Glu	0					AK7_ENST00000554313.1_3'UTR	p.D168E	NM_152327.3	NP_689540.2	0	1	1	1.986586	Q96M32	KAD7_HUMAN		5	548	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	1	1	hg19	c.504T>G	CCDS9945.1	1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021001	0.54576	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	-3.58	0.04597	5.21	-3.58	0.04597	NAD(P)-binding domain (1);	0.107337	0.64402	D	0.000009	T	0.72236	0.3435	M	0.84585	2.705	0.26550	N	0.973937	D	0.55605	0.972	P	0.58013	0.831	T	0.70270	-0.4918	10	0.72032	D	0.01	-40.7125	11.2731	0.49150	0.0:0.4445:0.0:0.5555	.	168	Q96M32	KAD7_HUMAN	E	168	ENSP00000267584:D168E	ENSP00000267584:D168E	D	+	3	2	2	AK7	95956917	95956917	0.024000	0.19004	0.001000	0.08648	0.187000	0.23431	0.008000	0.13197	-0.996000	0.03455	-0.441000	0.05720	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				50	49		242	234	1		1	1		0	0	41	0		1	9.837941e-01	0	16	0	18	0	50	242
AK7	122481	broad.mit.edu	37	14	96904235	96904235	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	225					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGGCATGTTACACACATT	0.373																																						ENST00000267584.4	0.490000	0.110000	3.800000e-01	1.800000e-01	0.270000	0.288269	0.270000	0.260000																										0				31						c.(673-675)Tta>Cta		adenylate kinase 7							90.0	94.0	93.0					14																	96904235		2203	4300	6503	SO:0001819	synonymous_variant	122481	0	0					g.chr14:96904235T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.673T>C	chr14.hg19:g.96904235T>C		0						p.L225L	NM_152327.3	NP_689540.2	0	1	1	1.986586	Q96M32	KAD7_HUMAN		6	717	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Q8IYP6	Silent	SNP	ENST00000267584.4	1	1	hg19	c.673T>C	CCDS9945.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	0	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-7.695373	1	0.170000				7	7		311	304	0		1	1		0	0	46	0		9.793211e-01	2.202209e-01	0	4	0	31	0	7	311
AK7	122481	broad.mit.edu	37	14	96909108	96909108	+	Silent	SNP	C	C	T	rs373955939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96909108C>T	ENST00000267584.4	+	7	776	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	244					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGTTTTTGGCGATGGAACAA	0.428																																						ENST00000267584.4	0.360000	0.120000	2.900000e-01	1.600000e-01	0.220000	0.233608	0.220000	0.220000																										0				31						c.(730-732)ggC>ggT		adenylate kinase 7							284.0	250.0	262.0					14																	96909108		2203	4300	6503	SO:0001819	synonymous_variant	122481	0	0					g.chr14:96909108C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.732C>T	chr14.hg19:g.96909108C>T		0						p.G244G	NM_152327.3	NP_689540.2	0	1	1	1.986586	Q96M32	KAD7_HUMAN		7	776	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Q8IYP6	Silent	SNP	ENST00000267584.4	0	1	hg19	c.732C>T	CCDS9945.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-2.114023	0	0.170000				13	12		682	671	0		1	0		0	0	124	0		9.994831e-01	1.175699e-01	0	1	0	28	0	13	682
PAPOLA	10914	broad.mit.edu	37	14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A	rs369122749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000216277.8	+	17	1790	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA. {ECO:0000250}.			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)			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)		CAGCAGCCTCGACTTGTCTAT	0.413																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1570-1572)Gac>Aac		poly(A) polymerase alpha		G	ASN/ASP	0,4406		0,0,2203	111.0	102.0	105.0		1570	5.3	1.0	14		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPOLA	NM_032632.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	524/746	97018865	1,13005	2203	4300	6503	SO:0001583	missense	10914	1	121412	31				g.chr14:97018865G>A	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.1570G>A	chr14.hg19:g.97018865G>A	ENSP00000216277:p.Asp524Asn	0					PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	p.D524N	NM_032632.4	NP_116021.2	0	1	1	1.986586	P51003	PAPOA_HUMAN		17	1790	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	1	1	hg19	c.1570G>A	CCDS9946.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070980	0.76301	0.0	1.16E-4	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.89;0.856;0.856	B;B;B	0.36335	0.222;0.148;0.148	T	0.54879	-0.8227	9	0.18710	T	0.47	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	540;540;524	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	N	524;540;524;274	.	ENSP00000216277:D524N	D	+	1	0	0	PAPOLA	96088618	96088618	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.102000	0.89548	2.644000	0.89710	0.650000	0.86243	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.348804	1	0.170000				68	66		333	329	1		1	1		0	0	80	0		1	1	0	53	0	167	0	68	333
PAPOLA	10914	broad.mit.edu	37	14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000216277.8	+	21	2326	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	702	Required for interaction with NUDT21.				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)			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)		CTCAATCAGAAACTATTCAGA	0.378																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2104-2106)gaA>gaC		poly(A) polymerase alpha							129.0	132.0	131.0					14																	97029194		2203	4300	6503	SO:0001583	missense	10914	0	0					g.chr14:97029194A>C	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.2106A>C	chr14.hg19:g.97029194A>C	ENSP00000216277:p.Glu702Asp	0					PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	p.E702D	NM_032632.4	NP_116021.2	0	1	1	1.986586	P51003	PAPOA_HUMAN		21	2326	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	1	1	hg19	c.2106A>C	CCDS9946.1	1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279488	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.93	2.27	0.28462	5.93	2.27	0.28462	.	0.324591	0.29410	N	0.012234	T	0.23846	0.0577	N	0.14661	0.345	0.34784	D	0.73503	B;B;B	0.23316	0.004;0.002;0.083	B;B;B	0.17098	0.004;0.002;0.017	T	0.15752	-1.0426	9	0.18710	T	0.47	.	5.4407	0.16507	0.6994:0.1476:0.153:0.0	.	697;718;702	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	D	702;697;681;452	.	ENSP00000216277:E702D	E	+	3	2	2	PAPOLA	96098947	96098947	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.002000	0.29796	0.145000	0.18977	0.482000	0.46254	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000				149	149		554	546	1		1	1		0	0	145	0		1	1	0	74	0	208	0	149	554
BCL11B	64919	broad.mit.edu	37	14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000357195.3	-	4	2548	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R	BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000345514.2_Missense_Mutation_p.G776R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	847					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTGCCCGTGCGTCTTC	0.627			T	TLX3	T-ALL																																	ENST00000357195.3	0.850000	0.260000	6.800000e-01	3.700000e-01	0.510000	0.531741	0.510000	0.480000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(2539-2541)Ggg>Agg		B-cell CLL/lymphoma 11B (zinc finger protein)							91.0	72.0	78.0					14																	99640634		2203	4300	6503	SO:0001583	missense	64919	0	0					g.chr14:99640634C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2539G>A	chr14.hg19:g.99640634C>T	ENSP00000349723:p.Gly847Arg	0					BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000345514.2_Missense_Mutation_p.G776R	p.G847R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	0	1	1	1.986586	Q9C0K0	BC11B_HUMAN		4	2548	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	1	1	hg19	c.2539G>A	CCDS9950.1	0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325480	0.81580	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.295993	0.27567	N	0.018789	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.21655	-1.0239	10	0.87932	D	0	-14.1891	17.9731	0.89119	0.0:1.0:0.0:0.0	.	776;847	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	R	847;776;653	ENSP00000349723:G847R;ENSP00000280435:G776R;ENSP00000387419:G653R	ENSP00000280435:G776R	G	-	1	0	0	BCL11B	98710387	98710387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.331000	0.79229	0.462000	0.41574	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.925714	1	0.170000	NM_138576			10	10		225	222	0		1	0		0	0	50	0		9.968630e-01	5.272843e-02	0	0	0	8	0	10	225
BCL11B	64919	broad.mit.edu	37	14	99641019	99641019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000357195.3	-	4	2163	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000345514.2_Silent_p.S647S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	718					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672			T	TLX3	T-ALL																																	ENST00000357195.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(2152-2154)tcG>tcA		B-cell CLL/lymphoma 11B (zinc finger protein)							22.0	20.0	21.0					14																	99641019		2196	4293	6489	SO:0001819	synonymous_variant	64919	1	120356	26				g.chr14:99641019C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2154G>A	chr14.hg19:g.99641019C>T		0					BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000345514.2_Silent_p.S647S	p.S718S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	0	1	1	1.986586	Q9C0K0	BC11B_HUMAN		4	2163	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Silent	SNP	ENST00000357195.3	1	1	hg19	c.2154G>A	CCDS9950.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_138576			29	29		101	99	0		1	0		0	0	20	0		1	1.336193e-01	0	1	0	2	0	29	101
BCL11B	64919	broad.mit.edu	37	14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	207					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721			T	TLX3	T-ALL																																	ENST00000357195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(619-621)gGa>gAa		B-cell CLL/lymphoma 11B (zinc finger protein)							27.0	26.0	26.0					14																	99697702		2203	4296	6499	SO:0001583	missense	64919	0	0					g.chr14:99697702C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.620G>A	chr14.hg19:g.99697702C>T	ENSP00000349723:p.Gly207Glu	0					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.G207E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	0	1	1	1.986586	Q9C0K0	BC11B_HUMAN		3	629	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	1	1	hg19	c.620G>A	CCDS9950.1	1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570624	0.65765	.	.	ENSG00000127152	ENST00000357195	T	0.44881	0.91	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.875761	0.09533	N	0.789240	T	0.56615	0.1997	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50955	-0.8766	10	0.49607	T	0.09	-1.9845	17.1189	0.86696	0.0:1.0:0.0:0.0	.	207	Q9C0K0	BC11B_HUMAN	E	207	ENSP00000349723:G207E	ENSP00000349723:G207E	G	-	2	0	0	BCL11B	98767455	98767455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.474000	0.83562	0.555000	0.69702	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_138576			37	37		140	137	0		1	0		0	0	30	0		1	4.548803e-02	0	1	0	1	0	37	140
BCL11B	64919	broad.mit.edu	37	14	99697788	99697788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	ENST00000357195.3	-	3	543	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	178					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAGGCAGGGCGGGAGAGCGC	0.697			T	TLX3	T-ALL																																	ENST00000357195.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(532-534)ccG>ccA		B-cell CLL/lymphoma 11B (zinc finger protein)							23.0	26.0	25.0					14																	99697788		2196	4298	6494	SO:0001819	synonymous_variant	64919	0	0					g.chr14:99697788C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.534G>A	chr14.hg19:g.99697788C>T		0					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.P178P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	0	1	1	1.986586	Q9C0K0	BC11B_HUMAN		3	543	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Silent	SNP	ENST00000357195.3	0	1	hg19	c.534G>A	CCDS9950.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	0	0	0		18	2	2	1		1	1	21		21	20	1	2.060000	-18.771590	1	0.170000	NM_138576			27	27		99	97	0		1	0		1	0	21	0		9.406011e-01	2.096231e-01	0	0	0	4	0	27	99
BCL11B	64919	broad.mit.edu	37	14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000357195.3	-	2	249	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.Q80H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	80					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607			T	TLX3	T-ALL																																	ENST00000357195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(238-240)caG>caT		B-cell CLL/lymphoma 11B (zinc finger protein)							62.0	65.0	64.0					14																	99723995		2203	4300	6503	SO:0001583	missense	64919	0	0					g.chr14:99723995C>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.240G>T	chr14.hg19:g.99723995C>A	ENSP00000349723:p.Gln80His	0					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.Q80H	p.Q80H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	0	1	1	1.986586	Q9C0K0	BC11B_HUMAN		2	249	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	1	1	hg19	c.240G>T	CCDS9950.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631309	0.46944	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.18657	2.2;2.2	5.89	4.06	0.47325	5.89	4.06	0.47325	.	0.088060	0.45867	N	0.000331	T	0.35682	0.0940	L	0.52266	1.64	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.011	T	0.03818	-1.1001	10	0.19590	T	0.45	-16.8894	12.052	0.53511	0.0:0.8138:0.1209:0.0653	.	80;80	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	80	ENSP00000349723:Q80H;ENSP00000280435:Q80H	ENSP00000280435:Q80H	Q	-	3	2	2	BCL11B	98793748	98793748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	0.816000	0.34421	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_138576			77	73		364	356	1		1	1		0	0	69	0		1	1.459813e-01	0	2	0	2	0	77	364
CCNK	8812	broad.mit.edu	37	14	99959071	99959071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	19					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458																																						ENST00000389879.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998794	0.990000	1.000000																										0				6						c.(55-57)caC>caT		cyclin K							67.0	64.0	65.0					14																	99959071		1904	4122	6026	SO:0001819	synonymous_variant	8812	0	0					g.chr14:99959071C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.57C>T	chr14.hg19:g.99959071C>T		0					CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	p.H19H	NM_001099402.1	NP_001092872.1	0	1	1	1.986586	O75909	CCNK_HUMAN		2	180	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	1	1	hg19	c.57C>T	CCDS45160.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				19	19		111	110	1		1	1		0	0	33	0		9.999940e-01	1	0	52	0	161	0	19	111
CCNK	8812	broad.mit.edu	37	14	99976659	99976659	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	ENST00000389879.5	+	11	1406	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	428					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCCTCCAGCTACATGACCGGG	0.682																																						ENST00000389879.5	1.000000	0.460000	1	7.500000e-01	0.990000	0.912691	0.990000	1.000000																										0				6						c.(1282-1284)tAc>tGc		cyclin K							16.0	17.0	17.0					14																	99976659		1839	4080	5919	SO:0001583	missense	8812	0	0					g.chr14:99976659A>G	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1283A>G	chr14.hg19:g.99976659A>G	ENSP00000374529:p.Tyr428Cys	0					CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	p.Y428C	NM_001099402.1	NP_001092872.1	0	1	1	1.986586	O75909	CCNK_HUMAN		11	1406	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	0	1	hg19	c.1283A>G	CCDS45160.1	1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294859	0.23564	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.21932	1.98	3.96	3.96	0.45880	3.96	3.96	0.45880	.	0.313205	0.31031	N	0.008392	T	0.24624	0.0597	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.02365	-1.1170	10	0.44086	T	0.13	-6.2002	13.0066	0.58707	1.0:0.0:0.0:0.0	.	428	O75909	CCNK_HUMAN	C	448;428	ENSP00000374529:Y428C	ENSP00000374529:Y428C	Y	+	2	0	0	CCNK	99046412	99046412	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	8.145000	0.89625	1.665000	0.50811	0.397000	0.26171	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-10.769270	1	0.170000				5	5		45	43	0		1	1		0	0	11	0		9.341555e-01	9.664802e-01	0	14	0	47	0	5	45
TMEM121	80757	broad.mit.edu	37	14	105995269	105995269	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	ENST00000392519.2	+	2	262	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	33						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GTGGAGCAGAACCAGGGCCCG	0.687																																						ENST00000392519.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				3						c.(97-99)aAc>aCc		transmembrane protein 121							92.0	78.0	83.0					14																	105995269		2200	4297	6497	SO:0001583	missense	80757	0	0					g.chr14:105995269A>C		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.98A>C	chr14.hg19:g.105995269A>C	ENSP00000376304:p.Asn33Thr	0					TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	p.N33T	NM_025268.2	NP_079544.1	0	1	1	1.986586	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	2	262	+		Melanoma(154;0.226)		Missense_Mutation	SNP	ENST00000392519.2	0	1	hg19	c.98A>C	CCDS10006.1	1	.	.	.	.	.	.	.	.	.	.	a	14.33	2.503675	0.44558	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	3.77	2.32	0.28847	3.77	2.32	0.28847	.	0.068612	0.56097	U	0.000027	T	0.34948	0.0915	L	0.27053	0.805	0.53688	D	0.999971	B	0.34181	0.44	B	0.31614	0.133	T	0.33189	-0.9878	9	0.66056	D	0.02	.	8.4915	0.33104	0.8774:0.0:0.1226:0.0	.	33	Q9BTD3	TM121_HUMAN	T	33	.	ENSP00000376304:N33T	N	+	2	0	0	TMEM121	105066314	105066314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.530000	0.67141	1.355000	0.45865	0.397000	0.26171	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_025268			16	15		51	50	0		1	0		0	0	9	0		9.999616e-01	0	0	0	0	1	0	16	51
MEF2A	4205	broad.mit.edu	37	15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000557785.1	+	5	734	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	131					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)			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)			TTTCAAACGAGGCCCTGTAAG	0.388																																						ENST00000557785.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				12						c.(385-387)Ggc>Tgc		myocyte enhancer factor 2A							175.0	159.0	163.0					15																	100211654		1568	3582	5150	SO:0001583	missense	4205	0	0					g.chr15:100211654G>T		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.385G>T	chr15.hg19:g.100211654G>T	ENSP00000453441:p.Gly129Cys	0					MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C	p.G129C	NM_001171894.1	NP_001165365.1	0	1	1	1.986442	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)	5	734	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	1	1	hg19	c.385G>T	CCDS53978.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388376	0.61956	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	5.4	5.4	0.78164	.	.	.	.	.	T	0.53948	0.1828	N	0.01352	-0.895	0.34472	D	0.702941	D;D;B;P	0.62365	0.965;0.991;0.001;0.931	P;P;B;P	0.62298	0.855;0.9;0.004;0.671	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	61;50;129;129	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	C	129;129;61	ENSP00000404110:G129C;ENSP00000337202:G129C;ENSP00000399460:G61C	ENSP00000337202:G129C	G	+	1	0	0	MEF2A	98029177	98029177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.694000	0.91930	0.561000	0.74099	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1	1	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-3.319536	1	0.170000				54	53		328	324	1		1	1		0	0	73	0		1	9.997337e-01	0	5	0	71	0	54	328
LYSMD4	145748	broad.mit.edu	37	15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000409796.1	-	2	325	c.263C>T	c.(262-264)gCg>gTg	p.A88V	LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.R59C|LYSMD4_ENST00000545021.1_5'UTR	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	88						integral component of membrane (GO:0016021)				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)			ATACTGCAGCGCCAGCTTGTT	0.667																																						ENST00000409796.1	1.000000	0.850000	1	9.900000e-01	0.990000	0.987876	0.990000	1.000000																										0				10						c.(262-264)gCg>gTg		LysM, putative peptidoglycan-binding, domain containing 4							56.0	58.0	58.0					15																	100271942		2203	4300	6503	SO:0001583	missense	145748	0	0					g.chr15:100271942G>A	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.263C>T	chr15.hg19:g.100271942G>A	ENSP00000386283:p.Ala88Val	0					LYSMD4_ENST00000344791.2_Missense_Mutation_p.R59C|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR	p.A88V	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	0	1	1	1.986442	Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)	2	325	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	1	1	hg19	c.263C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.153457|5.153457	0.94645|0.94645	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T;T	0.57595|0.19105	0.39;0.39|2.17;2.17	5.03|5.03	5.03|5.03	0.67393|0.67393	5.03|5.03	5.03|5.03	0.67393|0.67393	Peptidoglycan-binding Lysin subgroup (1);|.	.|4.488390	.|0.00732	.|N	.|0.000950	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52842	1.0|0.956	D|B	0.79784|0.39152	0.993|0.292	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.72032	D|D	0|0.01	-23.904|-23.904	18.3844|18.3844	0.90462|0.90462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88|59	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	V|C	88|59	ENSP00000386283:A88V;ENSP00000333008:A88V|ENSP00000342840:R59C;ENSP00000400054:R59C	ENSP00000333008:A88V|ENSP00000342840:R59C	A|R	-|-	2|1	0|0	0|0	LYSMD4|LYSMD4	98089465|98089465	98089465|98089465	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.996000|0.996000	0.88848|0.88848	8.816000|8.816000	0.91979|0.91979	2.325000|2.325000	0.78763|0.78763	0.655000|0.655000	0.94253|0.94253	GCG|CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.075755	1	0.170000	NM_152449			43	43		392	388	1		1	1		0	0	78	0		1	6.327713e-01	0	3	0	18	0	43	392
ADAMTS17	170691	broad.mit.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.1_ENST00000528696.3_RNA|CTD-3076O17.2_ENST00000559400.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592																																						ENST00000268070.4	0.540000	0.190000	4.500000e-01	2.600000e-01	0.340000	0.360031	0.340000	0.340000																										1	Substitution - Missense(1)	p.R1089C(1)	large_intestine(1)	50						c.(3265-3267)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 17							63.0	60.0	61.0					15																	100514630		2203	4300	6503	SO:0001583	missense	170691	5	121412	40				g.chr15:100514630G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	chr15.hg19:g.100514630G>A	ENSP00000268070:p.Arg1089Cys	0					CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	p.R1089C	NM_139057.2	NP_620688.2	0	1	1	1.986442	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	22	3370	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	1	1	hg19	c.3265C>T	CCDS10383.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	0	ADAMTS17	98332153	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.073149	1	0.170000	NM_139057			14	14		467	460	0		1	0		0	0	90	0		9.997349e-01	0	0	0	0	1	0	14	467
ADAMTS17	170691	broad.mit.edu	37	15	100591811	100591811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	807	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		CTTCCCAGCCGCTGTGGGTCC	0.527																																						ENST00000268070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2419-2421)agC>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							151.0	153.0	153.0					15																	100591811		2203	4300	6503	SO:0001819	synonymous_variant	170691	4	121412	42				g.chr15:100591811G>A	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.2421C>T	chr15.hg19:g.100591811G>A		0						p.S807S	NM_139057.2	NP_620688.2	0	1	1	1.986442	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	17	2526	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	1	1	hg19	c.2421C>T	CCDS10383.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	1	0	1		2	2	2	0		0	0	208		208	204	1	2.060000	-20.000000	1	0.170000	NM_139057			181	179		832	812	0		1	0		0	0	208	0		1	3.223353e-02	0	1	0	1	0	181	832
ADAMTS17	170691	broad.mit.edu	37	15	100636586	100636586	+	Silent	SNP	G	G	A	rs4965583	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100636586G>A	ENST00000268070.4	-	15	2217	c.2112C>T	c.(2110-2112)ggC>ggT	p.G704G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	704	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		GGCTGAAGTCGCCCTTCACCA	0.577													g|||	1321	0.263778	0.2504	0.2925	5008	,	,		17908	0.5		0.1262	False		,,,				2504	0.1595					ENST00000268070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2110-2112)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 17		G		1028,3378	376.8+/-322.2	113,802,1288	110.0	118.0	115.0		2112	-9.5	0.9	15	dbSNP_111	115	1127,7473	231.2+/-265.3	82,963,3255	no	coding-synonymous	ADAMTS17	NM_139057.2		195,1765,4543	AA,AG,GG		13.1047,23.3318,16.5693		704/1096	100636586	2155,10851	2203	4300	6503	SO:0001819	synonymous_variant	170691	22757	121410	79				g.chr15:100636586G>A	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.2112C>T	chr15.hg19:g.100636586G>A		0						p.G704G	NM_139057.2	NP_620688.2	0	1	1	1.986442	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	15	2217	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	1	0	hg19	c.2112C>T	CCDS10383.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	1		19	2	2	0		0	1	210		210	206	1	2.060000	-2.007498	0	0.170000	NM_139057			198	193		924	907	1		1	0		0	0	210	0		1	0	0	0	0	1	0	198	924
ADAMTS17	170691	broad.mit.edu	37	15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		CTGCACACACCTCCTAAGTAA	0.522																																						ENST00000268070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1093-1095)Ggt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 17							279.0	226.0	244.0					15																	100739611		2203	4300	6503	SO:0001583	missense	170691	0	0					g.chr15:100739611C>A	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.1093G>T	chr15.hg19:g.100739611C>A	ENSP00000268070:p.Gly365Cys	0					ADAMTS17_ENST00000559976.1_5'UTR	p.G365C	NM_139057.2	NP_620688.2	0	1	1	1.986442	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	8	1198	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	1	1	hg19	c.1093G>T	CCDS10383.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638920	0.87760	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	5.55	5.55	0.83447	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	122;365	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	C	365;122	ENSP00000268070:G365C	ENSP00000268070:G365C	G	-	1	0	0	ADAMTS17	98557134	98557134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	1	0	1		2	2	2	0		0	0	166		166	163	1	2.060000	-3.230969	1	0.170000	NM_139057			123	119		540	530	1		1	0		0	0	166	0		1	3.499740e-02	0	0	0	2	0	123	540
ADAMTS17	170691	broad.mit.edu	37	15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A	rs545485140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	233	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		GGTCTCCACCGTGTGCTCGCT	0.627																																						ENST00000268070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(697-699)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							45.0	44.0	44.0					15																	100821525		2203	4299	6502	SO:0001583	missense	170691	1	121386	34				g.chr15:100821525G>A	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.698C>T	chr15.hg19:g.100821525G>A	ENSP00000268070:p.Thr233Met	0						p.T233M	NM_139057.2	NP_620688.2	0	1	1	1.986442	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	4	803	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	1	1	hg19	c.698C>T	CCDS10383.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032945	0.75504	.	.	ENSG00000140470	ENST00000268070	D	0.87491	-2.26	4.89	4.89	0.63831	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.062019	0.64402	D	0.000009	D	0.90796	0.7110	L	0.46157	1.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.89864	0.4018	10	0.35671	T	0.21	.	18.0645	0.89387	0.0:0.0:1.0:0.0	.	233	Q8TE56	ATS17_HUMAN	M	233	ENSP00000268070:T233M	ENSP00000268070:T233M	T	-	2	0	0	ADAMTS17	98639048	98639048	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	5.800000	0.69108	2.259000	0.74868	0.462000	0.41574	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	1		19	2	2	1		1	1	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_139057			92	88		288	284	1		1	0		1	0	67	0		1	5.975148e-02	0	0	0	2	0	92	288
ALDH1A3	220	broad.mit.edu	37	15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	rs147752643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	470					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)			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)	CTGCTACAACGCCCTCTATGC	0.512																																						ENST00000329841.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1408-1410)Gcc>Acc		aldehyde dehydrogenase 1 family, member A3	Vitamin A(DB00162)	G	THR/ALA	0,4406		0,0,2203	134.0	115.0	121.0		1408	5.2	0.5	15	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ALDH1A3	NM_000693.2	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	470/513	101448629	5,13001	2203	4300	6503	SO:0001583	missense	220	28	121412	46				g.chr15:101448629G>A	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.1408G>A	chr15.hg19:g.101448629G>A	ENSP00000332256:p.Ala470Thr	0					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	p.A470T	NM_000693.2	NP_000684.2	0	1	1	1.986442	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)	12	1940	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	1	1	hg19	c.1408G>A	CCDS10389.1	1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280781	0.59758	0.0	5.81E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.14640	2.49	5.22	5.22	0.72569	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050216	0.85682	D	0.000000	T	0.20495	0.0493	N	0.16833	0.445	0.58432	D	0.999999	D;P	0.71674	0.998;0.927	D;B	0.66084	0.941;0.184	T	0.03278	-1.1053	10	0.42905	T	0.14	.	14.5249	0.67881	0.0:0.0:0.853:0.147	.	374;470	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	470;374	ENSP00000332256:A470T	ENSP00000332256:A470T	A	+	1	0	0	ALDH1A3	99266152	99266152	1.000000	0.71417	0.485000	0.27403	0.340000	0.28889	5.457000	0.66672	2.430000	0.82344	0.643000	0.83706	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-4.818349	1	0.170000				62	60		325	318	1		1	1		0	0	66	0		1	1	0	18	0	184	0	62	325
LRRK1	79705	broad.mit.edu	37	15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000388948.3	+	4	669	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C|LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 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)			GGAGATGGTCCGCTACCTACT	0.587																																						ENST00000388948.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(310-312)Cgc>Tgc		leucine-rich repeat kinase 1							97.0	99.0	98.0					15																	101523781		1973	4157	6130	SO:0001583	missense	79705	4	120896	38				g.chr15:101523781C>T	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.310C>T	chr15.hg19:g.101523781C>T	ENSP00000373600:p.Arg104Cys	0					LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C|LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C	p.R104C	NM_024652.3	NP_078928.3	0	1	1	1.986442			OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	4	669	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)			Missense_Mutation	SNP	ENST00000388948.3	1	1	hg19	c.310C>T	CCDS42086.1	1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239573	0.22711	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	3.65	0.41850	5.7	3.65	0.41850	Ankyrin repeat-containing domain (4);	0.153474	0.40302	N	0.001139	T	0.63558	0.2521	M	0.82923	2.615	0.09310	N	0.999992	B;P	0.40931	0.019;0.733	B;B	0.28465	0.011;0.09	T	0.65055	-0.6261	10	0.87932	D	0	.	12.9465	0.58375	0.3792:0.6208:0.0:0.0	.	104;104	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	104;77;104	ENSP00000373600:R104C;ENSP00000284395:R77C;ENSP00000433268:R104C	ENSP00000284395:R77C	R	+	1	0	0	LRRK1	99341304	99341304	0.652000	0.27349	0.017000	0.16124	0.411000	0.31082	1.551000	0.36233	1.382000	0.46385	0.585000	0.79938	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-2.851668	1	0.170000	NM_024652			112	108		551	536	1		1	1		0	0	125	0		1	9.288921e-01	0	3	0	21	0	112	551
LRRK1	79705	broad.mit.edu	37	15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000388948.3	+	10	1767	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 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)			CCTGGGACTTTTCCAGCTTGA	0.433																																						ENST00000388948.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(1408-1410)Ttc>Ctc		leucine-rich repeat kinase 1							127.0	126.0	126.0					15																	101552339		1833	4092	5925	SO:0001583	missense	79705	0	0					g.chr15:101552339T>C	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.1408T>C	chr15.hg19:g.101552339T>C	ENSP00000373600:p.Phe470Leu	0					LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	p.F470L	NM_024652.3	NP_078928.3	0	1	1	1.986442			OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	10	1767	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)			Missense_Mutation	SNP	ENST00000388948.3	1	1	hg19	c.1408T>C	CCDS42086.1	1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946632	0.18356	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67698	-0.28;-0.28	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39397	1.21	0.54753	D	0.99998	B	0.15141	0.012	B	0.14578	0.011	T	0.51849	-0.8653	10	0.11182	T	0.66	.	14.5142	0.67809	0.0:0.0:0.0:1.0	.	470	Q38SD2	LRRK1_HUMAN	L	470;467	ENSP00000373600:F470L;ENSP00000284395:F467L	ENSP00000284395:F467L	F	+	1	0	0	LRRK1	99369862	99369862	1.000000	0.71417	0.472000	0.27241	0.373000	0.29922	7.158000	0.77470	2.008000	0.58898	0.528000	0.53228	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000	NM_024652			113	113		549	530	1		1	1		0	0	137	0		1	9.871648e-01	0	8	0	27	0	113	549
LRRK1	79705	broad.mit.edu	37	15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000388948.3	+	31	5181	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 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)			CATCTACACCCTCAAGGGCAT	0.532																																						ENST00000388948.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4822-4824)Ctc>Atc		leucine-rich repeat kinase 1							133.0	138.0	136.0					15																	101602803		1996	4164	6160	SO:0001583	missense	79705	0	0					g.chr15:101602803C>A	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.4822C>A	chr15.hg19:g.101602803C>A	ENSP00000373600:p.Leu1608Ile	0					LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I|RP11-505E24.2_ENST00000559857.1_RNA	p.L1608I	NM_024652.3	NP_078928.3	0	1	1	1.986442			OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	31	5181	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)			Missense_Mutation	SNP	ENST00000388948.3	1	1	hg19	c.4822C>A	CCDS42086.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931718	0.73442	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72505	-0.66;-0.66	5.29	4.26	0.50523	5.29	4.26	0.50523	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.64997	1.995	0.38501	D	0.948239	D	0.76494	0.999	D	0.63793	0.918	T	0.79245	-0.1883	10	0.51188	T	0.08	.	9.1937	0.37215	0.0:0.8023:0.0:0.1977	.	1608	Q38SD2	LRRK1_HUMAN	I	1608;1605;299;162	ENSP00000373600:L1608I;ENSP00000284395:L1605I	ENSP00000284395:L1605I	L	+	1	0	0	LRRK1	99420326	99420326	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.479000	0.45197	2.484000	0.83849	0.491000	0.48974	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-2.607855	1	0.170000	NM_024652			67	64		329	320	1		1	1		0	0	92	0		1	9.893851e-01	0	9	0	28	0	67	329
LRRK1	79705	broad.mit.edu	37	15	101605829	101605829	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000388948.3	+	32	5546	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1726P|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 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)			GGCTGGAGCCCTACATGGCCC	0.622																																						ENST00000388948.3	0.710000	0.270000	5.900000e-01	3.600000e-01	0.470000	0.485627	0.470000	0.460000																										0				72						c.(5185-5187)ccC>ccA		leucine-rich repeat kinase 1							67.0	79.0	75.0					15																	101605829		2081	4212	6293	SO:0001819	synonymous_variant	79705	0	0					g.chr15:101605829C>A	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.5187C>A	chr15.hg19:g.101605829C>A		0					LRRK1_ENST00000284395.5_Silent_p.P1726P|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	p.P1729P	NM_024652.3	NP_078928.3	0	1	1	1.986442			OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	32	5546	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)			Silent	SNP	ENST00000388948.3	1	1	hg19	c.5187C>A	CCDS42086.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-2.968835	1	0.170000	NM_024652			16	16		387	382	0		1	1		0	0	86	0		9.999298e-01	5.199969e-01	0	3	0	39	0	16	387
SNRPA1	6627	broad.mit.edu	37	15	101821938	101821938	+	Silent	SNP	G	G	A	rs151201574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	253					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)			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)			CTCAGGACCCGTTTGTGACTG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20652	0.0		0.0	False		,,,				2504	0.0					ENST00000254193.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(757-759)aaC>aaT		small nuclear ribonucleoprotein polypeptide A'		G		1,4405	2.1+/-5.4	0,1,2202	100.0	96.0	98.0		759	-8.6	0.3	15	dbSNP_134	98	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	SNRPA1	NM_003090.2		0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076		253/256	101821938	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6627	68	121412	50				g.chr15:101821938G>A	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.759C>T	chr15.hg19:g.101821938G>A		0						p.N253N	NM_003090.2	NP_003081.2	0	1	1	1.986442	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	9	831	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	1	1	hg19	c.759C>T	CCDS10391.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.115157	1	0.170000	NM_003090			51	50		232	224	1		1	1		0	0	58	0		1	1	0	45	0	124	0	51	232
PCSK6	5046	broad.mit.edu	37	15	101905197	101905197	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101905197A>G	ENST00000331826.7	-	12	1412	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PCSK6_ENST00000398181.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000344273.2_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	0	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)			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)			agagtgtggaaacgaacctct	0.393																																						ENST00000331826.7	1.000000	0.200000	7.700000e-01	3.300000e-01	0.520000	0.555817	0.520000	1.000000																										0				32						c.(1411-1413)gtT>gtC		proprotein convertase subtilisin/kexin type 6							108.0	109.0	108.0					15																	101905197		1891	4119	6010	SO:0001819	synonymous_variant	5046	0	0					g.chr15:101905197A>G		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		ENST00000331826.7:c.1413T>C	chr15.hg19:g.101905197A>G		0					PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000398181.2_Intron	p.V471V			0	1	1	1.986442	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	12	1412	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000331826.7	1	1	hg19	c.1413T>C		0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PCSK6-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.970135	1	0.170000	NM_002570			5	5		113	111	0		1			0	0	34	0		9.360980e-01	0	0	0	0	0	0	5	113
PCSK6	5046	broad.mit.edu	37	15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000348070.1	-	9	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	352	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)			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)			CAGTAGTCCCCCTCTCTCCCG	0.612																																						ENST00000348070.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1051-1053)Ggg>Agg		proprotein convertase subtilisin/kexin type 6							62.0	71.0	68.0					15																	101933572		2203	4300	6503	SO:0001583	missense	5046	0	0					g.chr15:101933572C>T		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.1051G>A	chr15.hg19:g.101933572C>T	ENSP00000305056:p.Gly351Arg	0					PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	0	1	1	1.986442	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	9	1050	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	1	1	hg19	c.1051G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159489	0.38119	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.61	5.61	0.85477	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048919	0.85682	D	0.000000	D	0.91593	0.7344	L	0.37466	1.105	0.48762	D	0.999704	D;B;B;B;B;B;P;B;B	0.89917	1.0;0.42;0.055;0.044;0.055;0.055;0.782;0.285;0.333	D;B;B;B;B;B;B;B;B	0.97110	1.0;0.223;0.05;0.03;0.05;0.05;0.3;0.091;0.147	D	0.88946	0.3383	10	0.25106	T	0.35	-36.4737	18.9896	0.92786	0.0:1.0:0.0:0.0	.	352;257;351;352;351;351;352;352;351	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	351;351;256;351;351;186	ENSP00000305056:G351R;ENSP00000351193:G351R;ENSP00000344410:G351R;ENSP00000381243:G351R;ENSP00000332052:G186R	ENSP00000332052:G186R	G	-	1	0	0	PCSK6	99751095	99751095	0.227000	0.23707	0.997000	0.53966	0.572000	0.35998	2.255000	0.43222	2.793000	0.96121	0.655000	0.94253	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.474333	1	0.170000	NM_002570			55	55		227	224	1		1	1		0	0	60	0		1	9.968574e-01	0	15	0	24	0	55	227
TARSL2	123283	broad.mit.edu	37	15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	605					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348																																						ENST00000335968.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				29						c.(1813-1815)tTt>tCt		threonyl-tRNA synthetase-like 2							68.0	66.0	67.0					15																	102211926		2203	4300	6503	SO:0001583	missense	123283	0	0					g.chr15:102211926A>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1814T>C	chr15.hg19:g.102211926A>G	ENSP00000338093:p.Phe605Ser	0						p.F605S	NM_152334.2	NP_689547.2	0	1	1	1.986442	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	14	2030	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	1	1	hg19	c.1814T>C	CCDS10394.1	1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976726	0.53720	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.049922	0.85682	D	0.000000	T	0.43831	0.1265	N	0.26042	0.785	0.58432	D	0.99999	B;B	0.32338	0.365;0.167	B;B	0.31245	0.099;0.126	T	0.38286	-0.9668	9	0.31617	T	0.26	-9.3299	12.9168	0.58211	1.0:0.0:0.0:0.0	.	605;510	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	605;510;605	.	ENSP00000329291:F510S	F	-	2	0	0	TARSL2	100029449	100029449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.820000	0.92003	1.943000	0.56356	0.477000	0.44152	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_152334			37	37		176	170	1		1	1		0	0	55	0		1	9.999790e-01	0	24	0	58	0	37	176
OR4N4	283694	broad.mit.edu	37	15	22382753	22382753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	ENST00000328795.4	+	1	372	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GTAATCTCCTACAGAGGCTGC	0.502																																						ENST00000328795.4			0	0																														0				40						c.(280-282)tAc>tGc		olfactory receptor, family 4, subfamily N, member 4							46.0	47.0	47.0					15																	22382753		2188	4244	6432	SO:0001583	missense	283694	3	121110	32				g.chr15:22382753A>G	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.281A>G	chr15.hg19:g.22382753A>G	ENSP00000332500:p.Tyr94Cys	1					RP11-69H14.6_ENST00000558896.1_RNA	p.Y94C	NM_001005241.2	NP_001005241.2	0	0	0	1.765604	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	1	372	+		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)	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	0	1	hg19	c.281A>G	CCDS32173.1		.	.	.	.	.	.	.	.	.	.	.	8.881	0.951543	0.18431	.	.	ENSG00000183706	ENST00000328795	T	0.00330	8.08	3.2	2.0	0.26442	3.2	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.158240	0.29980	N	0.010703	T	0.00724	0.0024	M	0.89095	3.005	0.20196	N	0.999925	D	0.89917	1.0	D	0.70935	0.971	T	0.40627	-0.9553	10	0.87932	D	0	-7.8503	5.8534	0.18707	0.5674:0.0:0.0:0.4326	.	94	Q8N0Y3	OR4N4_HUMAN	C	94	ENSP00000332500:Y94C	ENSP00000332500:Y94C	Y	+	2	0	0	OR4N4	19884117	19884117	0.013000	0.17824	0.975000	0.42487	0.376000	0.30014	0.210000	0.17455	0.402000	0.25451	0.155000	0.16302	TAC	0		TCGA-IB-7651-01A-11D-2154-08	0.502	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1	0	0	1		2	2	2	0		0	0	95		95	165	1	2.060000	-20.000000	1	0.170000				70	58		401	289	0		1			0	0	95	0		1	0	0	0	0	0	0	70	401
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A	rs376814938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000328795.4			0	0																														1	Substitution - Missense(1)	p.S272Y(1)	large_intestine(1)	40						c.(814-816)tCt>tAt		olfactory receptor, family 4, subfamily N, member 4		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	SO:0001583	missense	283694	5	120650	36				g.chr15:22383287C>A	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	chr15.hg19:g.22383287C>A	ENSP00000332500:p.Ser272Tyr	1					RP11-69H14.6_ENST00000558896.1_RNA	p.S272Y	NM_001005241.2	NP_001005241.2	0	0	0	1.765604	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	1	906	+		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)	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	1	1	hg19	c.815C>A	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	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	0	OR4N4	19884651	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		TCGA-IB-7651-01A-11D-2154-08	0.418	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				118	117		528	519	0		1			0	0	110	0		1	0	0	0	0	0	0	118	528
MKRN3	7681	broad.mit.edu	37	15	23810940	23810940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	ENST00000314520.3	+	1	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	4					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		ATGGAAGAGCCTGCAGCTCCC	0.647																																						ENST00000314520.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997092	0.990000	1.000000																										0				61						c.(10-12)cCt>cAt		makorin ring finger protein 3							14.0	20.0	18.0					15																	23810940		2194	4294	6488	SO:0001583	missense	7681	0	0					g.chr15:23810940C>A	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.11C>A	chr15.hg19:g.23810940C>A	ENSP00000313881:p.Pro4His	0					RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	p.P4H	NM_005664.3	NP_005655.1	1	2	3	2.017291	Q13064	MKRN3_HUMAN		1	487	+		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)		Missense_Mutation	SNP	ENST00000314520.3	0	1	hg19	c.11C>A	CCDS10013.1	1	.	.	.	.	.	.	.	.	.	.	c	3.118	-0.181086	0.06380	.	.	ENSG00000179455	ENST00000314520	T	0.30981	1.51	3.36	2.45	0.29901	3.36	2.45	0.29901	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.22639	N	0.998905	D;D	0.71674	0.998;0.983	P;B	0.59012	0.85;0.431	T	0.07121	-1.0789	9	0.87932	D	0	.	6.6317	0.22861	0.0:0.8687:0.0:0.1313	.	4;4	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	4	ENSP00000313881:P4H	ENSP00000313881:P4H	P	+	2	0	0	MKRN3	21362033	21362033	0.988000	0.35896	0.969000	0.41365	0.048000	0.14542	1.612000	0.36889	0.987000	0.38709	-0.253000	0.11424	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.980880	1	0.170000	NM_005664			12	12		67	67	0		1	0		0	0	17	0		9.993713e-01	2.740139e-02	0	0	0	2	0	12	67
MKRN3	7681	broad.mit.edu	37	15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000314520.3	+	1	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	114					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		AGGGGGAGAACTGTCGCTATT	0.607																																						ENST00000314520.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(340-342)aaC>aaA		makorin ring finger protein 3							62.0	63.0	62.0					15																	23811271		2203	4300	6503	SO:0001583	missense	7681	0	0					g.chr15:23811271C>A	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.342C>A	chr15.hg19:g.23811271C>A	ENSP00000313881:p.Asn114Lys	0					RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.N114K	NM_005664.3	NP_005655.1	1	2	3	2.017291	Q13064	MKRN3_HUMAN		1	818	+		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)		Missense_Mutation	SNP	ENST00000314520.3	1	1	hg19	c.342C>A	CCDS10013.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896754	0.52121	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.94	-0.124	0.13523	3.94	-0.124	0.13523	Zinc finger, CCCH-type (2);	0.251054	0.38005	N	0.001852	T	0.19046	0.0457	N	0.21282	0.65	0.50313	D	0.999868	B	0.33266	0.404	B	0.24848	0.056	T	0.05273	-1.0895	10	0.22706	T	0.39	.	4.5958	0.12329	0.0:0.4436:0.3527:0.2036	.	114	Q13064	MKRN3_HUMAN	K	114	ENSP00000313881:N114K	ENSP00000313881:N114K	N	+	3	2	2	MKRN3	21362364	21362364	0.974000	0.33945	0.990000	0.47175	0.972000	0.66771	0.082000	0.14847	-0.002000	0.14469	0.563000	0.77884	AAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_005664			79	78		363	359	1		1	0		0	0	75	0		1	8.633070e-02	0	0	0	3	0	79	363
MKRN3	7681	broad.mit.edu	37	15	23812378	23812378	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000314520.3	+	1	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	483					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		CACTGAGAGATGAGTTACCCT	0.458																																						ENST00000314520.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1447-1449)gaT>gaC		makorin ring finger protein 3							158.0	149.0	152.0					15																	23812378		2203	4300	6503	SO:0001819	synonymous_variant	7681	0	0					g.chr15:23812378T>C	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.1449T>C	chr15.hg19:g.23812378T>C		0					MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.D483D	NM_005664.3	NP_005655.1	1	2	3	2.017291	Q13064	MKRN3_HUMAN		1	1925	+		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)		Silent	SNP	ENST00000314520.3	1	1	hg19	c.1449T>C	CCDS10013.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_005664			133	129		612	603	0		1	0		0	0	136	0		1	0	0	0	0	1	0	133	612
MAGEL2	54551	broad.mit.edu	37	15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	500					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552																																						ENST00000532292.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1849-1851)Ctc>Atc		MAGE-like 2							59.0	63.0	61.0					15																	23889232		2040	4195	6235	SO:0001583	missense	54551	0	0					g.chr15:23889232G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1849C>A	chr15.hg19:g.23889232G>T	ENSP00000433433:p.Leu617Ile	0						p.L617I	NM_019066.4	NP_061939.3	1	2	3	2.017291	Q9UJ55	MAGL2_HUMAN		1	1943	-		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)		Missense_Mutation	SNP	ENST00000532292.1	1	1	hg19	c.1849C>A		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_019066			59	57		216	212	0		1	0		0	0	53	0		1	4.670204e-01	0	0	0	7	0	59	216
MAGEL2	54551	broad.mit.edu	37	15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	98					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562																																						ENST00000532292.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(643-645)Cca>Tca		MAGE-like 2							64.0	68.0	67.0					15																	23890438		1988	4181	6169	SO:0001583	missense	54551	0	0					g.chr15:23890438G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.643C>T	chr15.hg19:g.23890438G>A	ENSP00000433433:p.Pro215Ser	0						p.P215S	NM_019066.4	NP_061939.3	1	2	3	2.017291	Q9UJ55	MAGL2_HUMAN		1	737	-		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)		Missense_Mutation	SNP	ENST00000532292.1	1	1	hg19	c.643C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_019066			72	71		305	288	0		1	0		0	0	79	0		1	9.775884e-02	0	0	0	3	0	72	305
NDN	4692	broad.mit.edu	37	15	23931896	23931896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23931896G>A	ENST00000331837.4	-	1	554	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	157	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)			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)		AGGCTGGTTAGCCTCAGGTGC	0.627									Prader-Willi syndrome																													ENST00000331837.4	1.000000	0.160000	5.900000e-01	2.400000e-01	0.370000	0.437592	0.370000	0.330000																										0				39						c.(469-471)Cta>Tta		necdin, melanoma antigen (MAGE) family member							35.0	36.0	36.0					15																	23931896		2203	4300	6503	SO:0001819	synonymous_variant	4692	2	121408	35	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	g.chr15:23931896G>A	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.469C>T	chr15.hg19:g.23931896G>A		0						p.L157L	NM_002487.2	NP_002478.1	1	2	3	2.017291	Q99608	NECD_HUMAN		1	554	-		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)	B2R6Z5	Silent	SNP	ENST00000331837.4	0	1	hg19	c.469C>T	CCDS10014.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	0	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-8.810607	1	0.170000	NM_002487			7	7		242	235	0		1	0		0	0	52	0		9.789875e-01	8.600789e-01	0	1	0	124	0	7	242
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000400100.1	+	9	1071	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNURF_ENST00000551312.2_Intron|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428									Prader-Willi syndrome																													ENST00000400100.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										1	Substitution - Missense(1)	p.R61C(1)	lung(1)	24						c.(181-183)Cgt>Tgt		small nuclear ribonucleoprotein polypeptide N							87.0	91.0	89.0					15																	25221477		1900	4118	6018	SO:0001583	missense	6638	0	0		Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	g.chr15:25221477C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.181C>T	chr15.hg19:g.25221477C>T	ENSP00000382972:p.Arg61Cys	0					SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C	p.R61C	NM_022807.2	NP_073718.1	1	2	3	2.017291	P63162	RSMN_HUMAN		9	1071	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	1	1	hg19	c.181C>T	CCDS10017.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885805	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.21	1.22	0.21188	4.21	1.22	0.21188	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.137297	0.48767	D	0.000174	T	0.47358	0.1441	M	0.88979	2.995	0.80722	D	1	P;P	0.34997	0.479;0.479	B;B	0.32677	0.15;0.15	T	0.45716	-0.9242	10	0.62326	D	0.03	-1.3672	5.3002	0.15773	0.1637:0.651:0.0:0.1853	.	65;61	B3KVR1;P63162	.;RSMN_HUMAN	C	61;61;61;65;61;65	ENSP00000382972:R61C;ENSP00000382970:R61C;ENSP00000382969:R61C;ENSP00000452342:R65C;ENSP00000375105:R61C;ENSP00000408767:R65C	ENSP00000375105:R61C	R	+	1	0	0	SNRPN	22772570	22772570	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	4.028000	0.57246	0.296000	0.22592	0.591000	0.81541	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-19.993520	1	0.170000	NM_003097			48	46		286	280	1		1	0		0	0	61	0		1	1	0	0	0	474	0	48	286
SNRPN	6638	broad.mit.edu	37	15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000400100.1	+	11	1380	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000551312.2_Intron|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	164					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597									Prader-Willi syndrome																													ENST00000400100.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(490-492)Gcc>Tcc		small nuclear ribonucleoprotein polypeptide N							36.0	38.0	37.0					15																	25222994		1963	4167	6130	SO:0001583	missense	6638	3	120894	33	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	g.chr15:25222994G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.490G>T	chr15.hg19:g.25222994G>T	ENSP00000382972:p.Ala164Ser	0					SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S	p.A164S	NM_022807.2	NP_073718.1	1	2	3	2.017291	P63162	RSMN_HUMAN		11	1380	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	1	1	hg19	c.490G>T	CCDS10017.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989846	0.74589	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.168726	0.51477	N	0.000081	T	0.58495	0.2126	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62338	-0.6875	10	0.87932	D	0	-14.2258	14.2785	0.66196	0.0:0.0:1.0:0.0	.	168;164	B3KVR1;P63162	.;RSMN_HUMAN	S	164;164;164;168;164;168;23	ENSP00000382972:A164S;ENSP00000382970:A164S;ENSP00000382969:A164S;ENSP00000452342:A168S;ENSP00000375105:A164S;ENSP00000408767:A168S	ENSP00000306223:A23S	A	+	1	0	0	SNRPN;SNURF	22774087	22774087	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.292000	0.89930	2.482000	0.83794	0.585000	0.79938	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_003097			39	37		151	146	1		1	1		0	0	40	0		1	1	0	89	0	268	0	39	151
UBE3A	7337	broad.mit.edu	37	15	25601996	25601996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25601996A>G	ENST00000397954.2	-	6	1809	c.1810T>C	c.(1810-1812)Tct>Cct	p.S604P	UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000232165.3_Missense_Mutation_p.S601P			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	604					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)			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)		TCAAAAGAAGATGGATTAAAC	0.313																																						ENST00000397954.2	1.000000	0.100000	2.700000e-01	1.400000e-01	0.190000	0.277294	0.190000	0.190000																										0				38						c.(1810-1812)Tct>Cct		ubiquitin protein ligase E3A							145.0	157.0	153.0					15																	25601996		2203	4300	6503	SO:0001583	missense	7337	0	0					g.chr15:25601996A>G	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.1810T>C	chr15.hg19:g.25601996A>G	ENSP00000381045:p.Ser604Pro	0					UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000232165.3_Missense_Mutation_p.S601P|SNHG14_ENST00000554726.1_RNA	p.S604P			1	2	3	2.017291	Q05086	UBE3A_HUMAN		6	1809	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	0	1	hg19	c.1810T>C	CCDS45192.1	0	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939995	0.92526	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.71	5.71	0.89125	5.71	5.71	0.89125	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61477	0.766;0.889	T	0.61510	-0.7048	10	0.33940	T	0.23	.	15.9836	0.80130	1.0:0.0:0.0:0.0	.	601;604	Q05086-3;Q05086	.;UBE3A_HUMAN	P	601;601;604;581;581	ENSP00000232165:S601P;ENSP00000381045:S604P;ENSP00000411258:S581P;ENSP00000401265:S581P	ENSP00000232165:S601P	S	-	1	0	0	UBE3A	23153089	23153089	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.338000	0.96553	2.185000	0.69588	0.528000	0.53228	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	0	0	1		2	2	2	0		0	0	226		226	224	1	2.060000	-3.076556	1	0.170000	NM_000462			16	16		1024	1014	0		1	1		0	0	226	0		9.999255e-01	6.764486e-01	0	3	0	144	0	16	1024
UBE3A	7337	broad.mit.edu	37	15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000397954.2	-	5	1629	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	544					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)			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)		TTTTCCATAGCGATCATCTCT	0.353																																						ENST00000397954.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				38						c.(1630-1632)Gct>Act		ubiquitin protein ligase E3A							72.0	65.0	68.0					15																	25605662		2202	4300	6502	SO:0001583	missense	7337	1	121408	27				g.chr15:25605662C>T	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.1630G>A	chr15.hg19:g.25605662C>T	ENSP00000381045:p.Ala544Thr	0					UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T|SNHG14_ENST00000554726.1_RNA	p.A544T			1	2	3	2.017291	Q05086	UBE3A_HUMAN		5	1629	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	1	1	hg19	c.1630G>A	CCDS45192.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.4	5.4	0.78164	5.4	5.4	0.78164	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51853	1.615	0.80722	D	1	D;D	0.67145	0.986;0.996	B;B	0.39738	0.288;0.308	D	0.85027	0.0915	10	0.40728	T	0.16	.	19.1816	0.93625	0.0:1.0:0.0:0.0	.	541;544	Q05086-3;Q05086	.;UBE3A_HUMAN	T	541;541;544;521;521	ENSP00000232165:A541T;ENSP00000381045:A544T;ENSP00000411258:A521T;ENSP00000401265:A521T	ENSP00000232165:A541T	A	-	1	0	0	UBE3A	23156755	23156755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.927000	0.63440	2.510000	0.84645	0.655000	0.94253	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_000462			32	31		150	149	1		1	1		0	0	32	0		1	9.999997e-01	0	16	0	104	0	32	150
UBE3A	7337	broad.mit.edu	37	15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000397954.2	-	4	867	c.868G>A	c.(868-870)Gta>Ata	p.V290I	UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	290			V -> G (in dbSNP:rs1059383). {ECO:0000269|PubMed:8380895, ECO:0000269|PubMed:9143503, ECO:0000269|Ref.9}.		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)			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)		TTCTCCATTACGATAATGAAC	0.393																																						ENST00000397954.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				38						c.(868-870)Gta>Ata		ubiquitin protein ligase E3A							54.0	52.0	53.0					15																	25616462		2203	4300	6503	SO:0001583	missense	7337	0	0					g.chr15:25616462C>T	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.868G>A	chr15.hg19:g.25616462C>T	ENSP00000381045:p.Val290Ile	0					UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I|SNHG14_ENST00000554726.1_RNA	p.V290I			1	2	3	2.017291	Q05086	UBE3A_HUMAN		4	867	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	1	1	hg19	c.868G>A	CCDS45192.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834978	0.32421	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.26;2.26	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.33293	1	0.58432	D	0.999998	B;B	0.34313	0.448;0.004	B;B	0.25614	0.062;0.004	T	0.07481	-1.0770	10	0.21014	T	0.42	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	287;290	Q05086-3;Q05086	.;UBE3A_HUMAN	I	287;287;290;267;267	ENSP00000232165:V287I;ENSP00000381045:V290I;ENSP00000411258:V267I;ENSP00000401265:V267I	ENSP00000232165:V287I	V	-	1	0	0	UBE3A	23167555	23167555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.044000	0.57361	2.779000	0.95612	0.591000	0.81541	GTA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	1	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-20.000000	1	0.170000	NM_000462			47	47		270	263	1		1	1		0	0	76	0		1	9.999991e-01	0	23	0	99	0	47	270
ATP10A	57194	broad.mit.edu	37	15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	692					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)			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)		GCCTCGTACCGCAGCTCGCGC	0.667																																						ENST00000356865.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(2074-2076)Cgg>Tgg		ATPase, class V, type 10A							35.0	36.0	36.0					15																	25959091		2203	4299	6502	SO:0001583	missense	57194	0	0					g.chr15:25959091G>A	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.2074C>T	chr15.hg19:g.25959091G>A	ENSP00000349325:p.Arg692Trp	0						p.R692W	NM_024490.3	NP_077816.1	1	2	3	2.017291	O60312	AT10A_HUMAN		10	2185	-		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)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	1	1	hg19	c.2074C>T	CCDS32178.1	1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199519	0.58126	.	.	ENSG00000206190	ENST00000356865	T	0.63580	-0.05	4.5	3.56	0.40772	4.5	3.56	0.40772	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86864	2.845	0.53688	D	0.999978	D	0.76494	0.999	P	0.61658	0.892	T	0.79936	-0.1593	10	0.38643	T	0.18	-30.3787	13.9862	0.64337	0.0:0.0:0.8471:0.1529	.	692	O60312	AT10A_HUMAN	W	692	ENSP00000349325:R692W	ENSP00000349325:R692W	R	-	1	2	2	ATP10A	23510184	23510184	1.000000	0.71417	0.997000	0.53966	0.675000	0.39556	4.994000	0.63901	1.003000	0.39130	0.561000	0.74099	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_024490			51	51		231	228	1		1	1		0	0	58	0		1	9.898229e-01	0	3	0	32	0	51	231
ATP10A	57194	broad.mit.edu	37	15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	486					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)			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)		ACTCTGGTGGCTGCCGATGCT	0.701																																						ENST00000356865.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				103						c.(1456-1458)aGc>aAc		ATPase, class V, type 10A							27.0	26.0	26.0					15																	25963453		2198	4299	6497	SO:0001583	missense	57194	0	0					g.chr15:25963453C>T	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.1457G>A	chr15.hg19:g.25963453C>T	ENSP00000349325:p.Ser486Asn	0						p.S486N	NM_024490.3	NP_077816.1	1	2	3	2.017291	O60312	AT10A_HUMAN		8	1568	-		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)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	1	1	hg19	c.1457G>A	CCDS32178.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021428	0.75275	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.14	5.14	0.70334	5.14	5.14	0.70334	HAD-like domain (1);	0.133177	0.64402	D	0.000002	T	0.22282	0.0537	L	0.43757	1.38	0.50313	D	0.999866	P	0.41188	0.741	P	0.53809	0.735	T	0.00636	-1.1633	10	0.33940	T	0.23	-23.9993	18.6071	0.91271	0.0:1.0:0.0:0.0	.	486	O60312	AT10A_HUMAN	N	486	ENSP00000349325:S486N	ENSP00000349325:S486N	S	-	2	0	0	ATP10A	23514546	23514546	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	5.742000	0.68646	2.382000	0.81193	0.655000	0.94253	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_024490			28	28		143	141	1		1	0		0	0	26	0		1	9.662423e-01	0	0	0	31	0	28	143
ATP10A	57194	broad.mit.edu	37	15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T	rs539032579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	208					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.R208Q(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)		CACCTGCCGCCGCTTCAGGTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16301	0.0		0.0	False		,,,				2504	0.001					ENST00000356865.6	1.000000	0.320000	7.100000e-01	4.100000e-01	0.530000	0.577634	0.530000	0.510000																										1	Substitution - Missense(1)	p.R208Q(1)	large_intestine(1)	103						c.(622-624)cGg>cAg		ATPase, class V, type 10A							72.0	74.0	74.0					15																	26026197		2203	4300	6503	SO:0001583	missense	57194	15	121412	43				g.chr15:26026197C>T	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.623G>A	chr15.hg19:g.26026197C>T	ENSP00000349325:p.Arg208Gln	0						p.R208Q	NM_024490.3	NP_077816.1	1	2	3	2.017291	O60312	AT10A_HUMAN		2	734	-		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)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	1	1	hg19	c.623G>A	CCDS32178.1	0	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839056	0.16891	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	3.67	0.42095	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121989	0.56097	D	0.000034	T	0.55862	0.1947	N	0.00082	-2.215	0.38704	D	0.953065	B	0.11235	0.004	B	0.09377	0.004	T	0.66803	-0.5831	10	0.02654	T	1	-29.3942	4.2405	0.10645	0.0:0.7173:0.0:0.2827	.	208	O60312	AT10A_HUMAN	Q	208	ENSP00000349325:R208Q	ENSP00000349325:R208Q	R	-	2	0	0	ATP10A	23577290	23577290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.672000	0.54583	2.428000	0.82296	0.561000	0.74099	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.162972	1	0.170000	NM_024490			20	18		446	435	0		1	0		0	0	93	0		9.999941e-01	6.158761e-01	0	0	0	47	0	20	446
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000311550.5	-	8	1104	c.993C>A	c.(991-993)ttC>ttA	p.F331L	GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F387L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					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)			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)	CTCTTCCAAAGAAAATGTAGT	0.483																																						ENST00000311550.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(991-993)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, beta 3	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)						139.0	145.0	143.0					15																	26806166		2203	4300	6503	SO:0001583	missense	2562	0	0					g.chr15:26806166G>T		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.993C>A	chr15.hg19:g.26806166G>T	ENSP00000308725:p.Phe331Leu	0					GABRB3_ENST00000541819.2_Missense_Mutation_p.F387L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L	p.F331L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	1	2	3	2.017291	P28472	GBRB3_HUMAN		8	1104	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	1	1	hg19	c.993C>A	CCDS10019.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226466	0.79576	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.19	3.28	0.37604	5.19	3.28	0.37604	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.55743	1.74	0.80722	D	1	P;P;P	0.46457	0.878;0.717;0.76	B;B;B	0.42245	0.381;0.187;0.378	T	0.82271	-0.0540	10	0.62326	D	0.03	.	11.1972	0.48719	0.1517:0.0:0.8483:0.0	.	387;331;331	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	331;387;331;260;246	ENSP00000308725:F331L;ENSP00000442408:F387L;ENSP00000299267:F331L;ENSP00000383049:F260L;ENSP00000439169:F246L	ENSP00000299267:F331L	F	-	3	2	2	GABRB3	24357259	24357259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	1.174000	0.42811	0.655000	0.94253	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				89	89		440	432	1		1	1		0	0	110	0		1	9.031453e-01	0	15	0	7	0	89	440
GABRB3	2562	broad.mit.edu	37	15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000311550.5	-	4	469	c.358G>A	c.(358-360)Gac>Aac	p.D120N	GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000541819.2_Missense_Mutation_p.D176N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	120	Agonist binding.				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.D120Y(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)	AAATATGTGTCGGGCACCCAT	0.463																																						ENST00000311550.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D120Y(1)	lung(1)	68						c.(358-360)Gac>Aac		gamma-aminobutyric acid (GABA) A receptor, beta 3	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)						107.0	102.0	104.0					15																	26866564		2203	4300	6503	SO:0001583	missense	2562	0	0					g.chr15:26866564C>T		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.358G>A	chr15.hg19:g.26866564C>T	ENSP00000308725:p.Asp120Asn	0					GABRB3_ENST00000541819.2_Missense_Mutation_p.D176N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N	p.D120N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	1	2	3	2.017291	P28472	GBRB3_HUMAN		4	469	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	1	1	hg19	c.358G>A	CCDS10019.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.652241	0.96724	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.81	5.81	0.92471	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	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	1.0;1.0;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	176;120;120	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	120;176;120;49;35;35	ENSP00000308725:D120N;ENSP00000442408:D176N;ENSP00000299267:D120N;ENSP00000383049:D49N;ENSP00000439169:D35N;ENSP00000452272:D35N	ENSP00000299267:D120N	D	-	1	0	0	GABRB3	24417657	24417657	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.148413	1	0.170000				82	82		373	367	1		1	1		0	0	94	0		1	7.473623e-01	0	4	0	10	0	82	373
GABRB3	2562	broad.mit.edu	37	15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000311550.5	-	3	323	c.212G>T	c.(211-213)aGc>aTc	p.S71I	GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000541819.2_Missense_Mutation_p.S127I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	71					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)			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)	CATGTCGATGCTGGCGATGTC	0.692																																						ENST00000311550.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999780	0.990000	1.000000																										0				68						c.(211-213)aGc>aTc		gamma-aminobutyric acid (GABA) A receptor, beta 3	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)						41.0	35.0	37.0					15																	27017577		2198	4299	6497	SO:0001583	missense	2562	0	0					g.chr15:27017577C>A		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.212G>T	chr15.hg19:g.27017577C>A	ENSP00000308725:p.Ser71Ile	0					GABRB3_ENST00000541819.2_Missense_Mutation_p.S127I|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR	p.S71I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	1	2	3	2.017291	P28472	GBRB3_HUMAN		3	323	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	1	1	hg19	c.212G>T	CCDS10019.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934442	0.73442	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.80738	-1.41;-1.41;-1.41	4.57	4.57	0.56435	4.57	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091921	0.85682	D	0.000000	D	0.92977	0.7765	H	0.97240	3.965	0.80722	D	1	D;P;D	0.65815	0.995;0.917;0.993	D;P;D	0.67900	0.917;0.813;0.954	D	0.95584	0.8649	10	0.87932	D	0	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	127;71;71	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	71;127;71	ENSP00000308725:S71I;ENSP00000442408:S127I;ENSP00000299267:S71I	ENSP00000299267:S71I	S	-	2	0	0	GABRB3	24568670	24568670	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.560000	0.73950	2.063000	0.61619	0.313000	0.20887	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				16	16		71	69	0		1	0		0	0	17	0		9.999547e-01	3.230721e-01	0	0	0	6	0	16	71
GABRA5	2558	broad.mit.edu	37	15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	26					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)			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)	GAACTTATCCAGTCACTTTGG	0.393																																						ENST00000335625.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(76-78)Agt>Ggt		gamma-aminobutyric acid (GABA) A receptor, alpha 5	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)						175.0	172.0	173.0					15																	27114471		1936	4155	6091	SO:0001583	missense	2558	0	0					g.chr15:27114471A>G		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.76A>G	chr15.hg19:g.27114471A>G	ENSP00000335592:p.Ser26Gly	0					GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G|GABRA5_ENST00000557449.1_3'UTR	p.S26G	NM_000810.3	NP_000801.1	1	2	3	2.017291	P31644	GBRA5_HUMAN		3	964	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	1	1	hg19	c.76A>G	CCDS45194.1	1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776450	0.49786	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.80653	-0.55;-0.55;-0.55;-1.08;-1.08;-1.4	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.343920	0.32134	N	0.006526	T	0.62405	0.2425	N	0.08118	0	0.34251	D	0.67878	B	0.02656	0.0	B	0.01281	0.0	T	0.64896	-0.6299	10	0.17832	T	0.49	.	12.5835	0.56403	1.0:0.0:0.0:0.0	.	26	P31644	GBRA5_HUMAN	G	26	ENSP00000335592:S26G;ENSP00000347557:S26G;ENSP00000382953:S26G;ENSP00000451527:S26G;ENSP00000450806:S26G;ENSP00000450717:S26G	ENSP00000335592:S26G	S	+	1	0	0	GABRA5	24665564	24665564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	2.216000	0.71823	0.533000	0.62120	AGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				71	71		310	306	1		1			0	0	83	0		1	0	0	0	0	0	0	71	310
GABRA5	2558	broad.mit.edu	37	15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			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)	GAAAGGCTTCGGTTTAAGGGG	0.562																																						ENST00000335625.5	1.000000	0.320000	6.300000e-01	3.900000e-01	0.480000	0.540003	0.480000	0.470000																										0				49						c.(328-330)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	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)						107.0	117.0	114.0					15																	27128536		2118	4262	6380	SO:0001583	missense	2558	0	0					g.chr15:27128536G>A		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.329G>A	chr15.hg19:g.27128536G>A	ENSP00000335592:p.Arg110Gln	0					GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRA5_ENST00000557449.1_Intron	p.R110Q	NM_000810.3	NP_000801.1	1	2	3	2.017291	P31644	GBRA5_HUMAN		6	1217	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	1	1	hg19	c.329G>A	CCDS45194.1	0	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651070	0.47362	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.4	3.39	0.38822	5.4	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	N	0.000002	T	0.59715	0.2214	N	0.13098	0.295	0.35436	D	0.794458	B	0.06786	0.001	B	0.08055	0.003	T	0.59968	-0.7354	10	0.62326	D	0.03	.	8.0138	0.30368	0.2683:0.0:0.7317:0.0	.	110	P31644	GBRA5_HUMAN	Q	110;110;78;110;110;110;78	ENSP00000335592:R110Q;ENSP00000347557:R110Q;ENSP00000450653:R78Q;ENSP00000382953:R110Q;ENSP00000450806:R110Q;ENSP00000450717:R110Q;ENSP00000450529:R78Q	ENSP00000335592:R110Q	R	+	2	0	0	GABRA5	24679629	24679629	0.033000	0.19621	0.919000	0.36401	0.646000	0.38490	1.164000	0.31810	0.655000	0.30866	0.561000	0.74099	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1		2	2	2	1		1	0	121		121	119	1	2.060000	-2.459638	0	0.170000				27	28		651	647	0		1			1	0	121	0		1	0	0	0	0	0	0	27	651
GABRA5	2558	broad.mit.edu	37	15	27188450	27188450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	ENST00000335625.5	+	10	1854	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	322					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)			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)	CCATGGACTGGTTCATAGCCG	0.582																																						ENST00000335625.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999850	0.990000	1.000000																										0				49						c.(964-966)tgG>tgA		gamma-aminobutyric acid (GABA) A receptor, alpha 5	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)						28.0	30.0	30.0					15																	27188450		2128	4273	6401	SO:0001587	stop_gained	2558	0	0					g.chr15:27188450G>A		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.966G>A	chr15.hg19:g.27188450G>A	ENSP00000335592:p.Trp322*	0					GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	p.W322*	NM_000810.3	NP_000801.1	1	2	3	2.017291	P31644	GBRA5_HUMAN		10	1854	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	0	1	hg19	c.966G>A	CCDS45194.1	1	.	.	.	.	.	.	.	.	.	.	-	40	8.056675	0.98632	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	.	.	.	X	322	.	ENSP00000335592:W322X	W	+	3	0	0	GABRA5	24771196	24771196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999980	1	0.170000				12	12		35	35	1		1	0		0	0	10	0		9.995328e-01	0	0	0	0	1	0	12	35
GABRG3	2567	broad.mit.edu	37	15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	141					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACCGCAGAGGCTCACTGGAT	0.453																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(421-423)Gct>Act		gamma-aminobutyric acid (GABA) A receptor, gamma 3	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						87.0	87.0	87.0					15																	27572106		1992	4183	6175	SO:0001583	missense	2567	0	0					g.chr15:27572106G>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.421G>A	chr15.hg19:g.27572106G>A	ENSP00000331912:p.Ala141Thr	0					GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	p.A141T	NM_033223.4	NP_150092.2	1	2	3	2.017291	Q99928	GBRG3_HUMAN		4	675	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	1	1	hg19	c.421G>A	CCDS45195.1	1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822371	0.71028	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77620	-1.11;-1.11;-1.11	5.79	5.79	0.91817	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053250	0.85682	D	0.000000	D	0.84674	0.5524	L	0.60455	1.87	0.41409	D	0.987727	P;P	0.41978	0.767;0.725	P;P	0.54431	0.752;0.611	D	0.84862	0.0820	10	0.62326	D	0.03	.	19.0355	0.92976	0.0:0.0:1.0:0.0	.	141;141	Q99928;G3V594	GBRG3_HUMAN;.	T	141;141;83	ENSP00000331912:A141T;ENSP00000452244:A141T;ENSP00000451862:A83T	ENSP00000331912:A141T	A	+	1	0	0	GABRG3	25154852	25154852	1.000000	0.71417	0.995000	0.50966	0.517000	0.34286	4.933000	0.63484	2.722000	0.93159	0.655000	0.94253	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000				58	55		234	232	0		1	0		0	0	59	0		1	1.818283e-01	0	0	0	4	0	58	234
HERC2	8924	broad.mit.edu	37	15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GTCTGGAGGGTTGTATTTATC	0.473																																						ENST00000261609.7	1.000000	0.740000	1	8.900000e-01	0.990000	0.963168	0.990000	1.000000																										0				204						c.(14248-14250)aAc>aGc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							82.0	71.0	75.0					15																	28357165		2203	4300	6503	SO:0001583	missense	8924	2	121408	35				g.chr15:28357165T>C	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.14249A>G	chr15.hg19:g.28357165T>C	ENSP00000261609:p.Asn4750Ser	0						p.N4750S	NM_004667.5	NP_004658.3	1	2	3	2.017291				93	14357	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.14249A>G	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027429	0.75390	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.84	4.72	0.59763	5.84	4.72	0.59763	HECT (4);	0.045918	0.85682	N	0.000000	T	0.46658	0.1404	L	0.27053	0.805	0.80722	D	1	P;B	0.49090	0.919;0.034	P;B	0.60173	0.87;0.038	T	0.40098	-0.9581	10	0.46703	T	0.11	.	11.797	0.52106	0.0:0.0683:0.0:0.9317	.	4750;439	O95714;Q8ND39	HERC2_HUMAN;.	S	4750	ENSP00000261609:N4750S	ENSP00000261609:N4750S	N	-	2	0	0	HERC2	26030760	26030760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	1.039000	0.40074	0.533000	0.62120	AAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	69		69	66	1	2.060000	-20.000000	1	0.170000	NM_004667			33	32		341	332	0		1	1		0	0	69	0		1	9.986239e-01	0	14	0	92	0	33	341
HERC2	8924	broad.mit.edu	37	15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AAAAGAGAGCGCTCTGTGTTG	0.607																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(14146-14148)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							70.0	64.0	66.0					15																	28358303		2203	4300	6503	SO:0001583	missense	8924	0	0					g.chr15:28358303G>A	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.14146C>T	chr15.hg19:g.28358303G>A	ENSP00000261609:p.Arg4716Cys	0						p.R4716C	NM_004667.5	NP_004658.3	1	2	3	2.017291				92	14254	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.14146C>T	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574110	0.86542	.	.	ENSG00000128731	ENST00000261609	T	0.54071	0.59	5.0	5.0	0.66597	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.964;0.987	D	0.86189	0.1611	10	0.87932	D	0	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	4716;405	O95714;Q8ND39	HERC2_HUMAN;.	C	4716	ENSP00000261609:R4716C	ENSP00000261609:R4716C	R	-	1	0	0	HERC2	26031898	26031898	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.274000	0.58921	2.331000	0.79229	0.561000	0.74099	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_004667			68	67		258	254	1		1	1		0	0	49	0		1	9.999971e-01	0	21	0	53	0	68	258
HERC2	8924	broad.mit.edu	37	15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	rs144912188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCATACCATCGTCTCCAGTTC	0.582																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				204						c.(14014-14016)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G	MET/THR	0,4406		0,0,2203	85.0	79.0	81.0		14015	5.3	1.0	15	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	HERC2	NM_004667.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4672/4835	28358723	1,13005	2203	4300	6503	SO:0001583	missense	8924	12	121412	42				g.chr15:28358723G>A	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.14015C>T	chr15.hg19:g.28358723G>A	ENSP00000261609:p.Thr4672Met	0						p.T4672M	NM_004667.5	NP_004658.3	1	2	3	2.017291				91	14123	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.14015C>T	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712289	0.68730	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.33	5.33	0.75918	5.33	5.33	0.75918	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	L	0.49640	1.575	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64144	0.788;0.922	T	0.73307	-0.4024	10	0.72032	D	0.01	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4672;361	O95714;Q8ND39	HERC2_HUMAN;.	M	4672	ENSP00000261609:T4672M	ENSP00000261609:T4672M	T	-	2	0	0	HERC2	26032318	26032318	1.000000	0.71417	0.954000	0.39281	0.172000	0.22775	9.801000	0.99128	2.503000	0.84419	0.561000	0.74099	ACG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_004667			40	39		206	205	1		1	1		0	0	34	0		1	9.999832e-01	0	15	0	74	0	40	206
HERC2	8924	broad.mit.edu	37	15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCTCATCCCAGCCAGCTGCTT	0.612																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(13687-13689)gCt>gAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65.0	57.0	60.0					15																	28360609		2203	4300	6503	SO:0001583	missense	8924	1	121412	30				g.chr15:28360609G>T	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.13688C>A	chr15.hg19:g.28360609G>T	ENSP00000261609:p.Ala4563Asp	0						p.A4563D	NM_004667.5	NP_004658.3	1	2	3	2.017291				89	13796	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.13688C>A	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.687309	0.96784	.	.	ENSG00000128731	ENST00000261609	T	0.58506	0.33	5.56	5.56	0.83823	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72982	0.979;0.972	T	0.81004	-0.1129	10	0.87932	D	0	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	4563;252	O95714;Q8ND39	HERC2_HUMAN;.	D	4563	ENSP00000261609:A4563D	ENSP00000261609:A4563D	A	-	2	0	0	HERC2	26034204	26034204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.601000	0.87937	0.655000	0.94253	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	38		38	27	1	2.060000	-20.000000	1	0.170000	NM_004667			40	36		183	167	0		1	1		0	0	38	0		1	9.999903e-01	0	29	0	55	0	40	183
HERC2	8924	broad.mit.edu	37	15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CTGTGCCCCAGCCGGCCGTAG	0.647																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(12367-12369)Ctg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46.0	48.0	47.0					15																	28377840		2201	4300	6501	SO:0001583	missense	8924	0	0					g.chr15:28377840G>T	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.12367C>A	chr15.hg19:g.28377840G>T	ENSP00000261609:p.Leu4123Met	0						p.L4123M	NM_004667.5	NP_004658.3	1	2	3	2.017291				80	12475	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.12367C>A	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677307	0.68042	.	.	ENSG00000128731	ENST00000261609	D	0.97161	-4.27	4.86	3.94	0.45596	4.86	3.94	0.45596	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167980	0.38381	N	0.001718	D	0.99032	0.9669	H	0.98446	4.235	0.58432	D	0.999999	P	0.51351	0.944	D	0.68353	0.957	D	0.98968	1.0800	10	0.87932	D	0	.	13.7802	0.63079	0.0755:0.0:0.9245:0.0	.	4123	O95714	HERC2_HUMAN	M	4123	ENSP00000261609:L4123M	ENSP00000261609:L4123M	L	-	1	2	2	HERC2	26051435	26051435	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	4.856000	0.62932	1.168000	0.42723	0.555000	0.69702	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_004667			109	106		398	392	1		1	1		0	0	113	0		1	9.999888e-01	0	22	0	40	0	109	398
HERC2	8924	broad.mit.edu	37	15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCGATCATGGCGGCCGGCATC	0.632																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(10261-10263)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							32.0	34.0	33.0					15																	28413705		2203	4300	6503	SO:0001583	missense	8924	10	121408	42				g.chr15:28413705C>T	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.10261G>A	chr15.hg19:g.28413705C>T	ENSP00000261609:p.Ala3421Thr	0						p.A3421T	NM_004667.5	NP_004658.3	1	2	3	2.017291				67	10369	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.10261G>A	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640486	0.29157	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.46	0.624	0.17659	5.46	0.624	0.17659	.	0.137592	0.64402	D	0.000006	T	0.13927	0.0337	N	0.03608	-0.345	0.24273	N	0.995238	B	0.24426	0.103	B	0.19666	0.026	T	0.18461	-1.0336	10	0.38643	T	0.18	.	7.3517	0.26695	0.0:0.3306:0.0:0.6694	.	3421	O95714	HERC2_HUMAN	T	3421	ENSP00000261609:A3421T	ENSP00000261609:A3421T	A	-	1	0	0	HERC2	26087300	26087300	0.977000	0.34250	0.327000	0.25402	0.051000	0.14879	2.057000	0.41365	0.293000	0.22520	0.491000	0.48974	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_004667			78	77		316	311	0		1	1		0	0	47	0		1	9.981873e-01	0	10	0	31	0	78	316
HERC2	8924	broad.mit.edu	37	15	28446601	28446601	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAATTACTCACCTGAATATTC	0.433																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.e48+1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	89.0	92.0					15																	28446601		2203	4299	6502	SO:0001630	splice_region_variant	8924	0	0					g.chr15:28446601C>T	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.7716+1G>A	chr15.hg19:g.28446601C>T		0							NM_004667.5	NP_004658.3	1	2	3	2.017291				48	7825	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Splice_Site	SNP	ENST00000261609.7	1	1	hg19		CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.411424	0.83340	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	HERC2	26120196	26120196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.629000	0.83207	2.577000	0.86979	0.561000	0.74099	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_004667	Intron		73	68		313	306	1		1			0	0	63	0		1	0	0	0	0	0	0	73	313
HERC2	8924	broad.mit.edu	37	15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CATACATGTCTTGTCCGTCGT	0.557																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(6022-6024)aAg>aCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65.0	80.0	74.0					15																	28463640		1391	2356	3747	SO:0001583	missense	8924	0	0					g.chr15:28463640T>G	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.6023A>C	chr15.hg19:g.28463640T>G	ENSP00000261609:p.Lys2008Thr	0						p.K2008T	NM_004667.5	NP_004658.3	1	2	3	2.017291				38	6131	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.6023A>C	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	T	9.983	1.228679	0.22542	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.25	0.37280	4.4	3.25	0.37280	.	0.110120	0.64402	N	0.000015	T	0.28962	0.0719	L	0.33485	1.01	0.58432	D	0.999999	B	0.18741	0.03	B	0.15052	0.012	T	0.05616	-1.0874	10	0.15952	T	0.53	.	11.3329	0.49487	0.0:0.0:0.1525:0.8475	.	2008	O95714	HERC2_HUMAN	T	2008	ENSP00000261609:K2008T	ENSP00000261609:K2008T	K	-	2	0	0	HERC2	26137235	26137235	1.000000	0.71417	0.984000	0.44739	0.404000	0.30871	3.061000	0.49963	0.805000	0.34159	0.528000	0.53228	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0		2	2	2	0		0	0	97		97	124	1	2.060000	-20.000000	1	0.170000	NM_004667			93	65		410	291	0		1	1		0	0	97	0		1	7.609765e-01	0	3	0	11	0	93	410
HERC2	8924	broad.mit.edu	37	15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AGCAGAAGGTCGAGGTTGTTT	0.612																																						ENST00000261609.7	1.000000	0.480000	1	6.300000e-01	0.830000	0.822077	0.830000	1.000000																										0				204						c.(5407-5409)Gac>Aac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							80.0	61.0	67.0					15																	28473421		2203	4300	6503	SO:0001583	missense	8924	0	0					g.chr15:28473421C>T	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.5407G>A	chr15.hg19:g.28473421C>T	ENSP00000261609:p.Asp1803Asn	0						p.D1803N	NM_004667.5	NP_004658.3	1	2	3	2.017291				35	5515	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.5407G>A	CCDS10021.1	0	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363679	0.05103	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.21	0.74	0.18330	4.21	0.74	0.18330	.	0.334862	0.33875	N	0.004471	T	0.10208	0.0250	N	0.02011	-0.69	0.27090	N	0.962869	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.05525	T	0.97	.	7.4641	0.27312	0.0:0.2304:0.0:0.7696	.	1803	O95714	HERC2_HUMAN	N	1803	ENSP00000261609:D1803N	ENSP00000261609:D1803N	D	-	1	0	0	HERC2	26147016	26147016	1.000000	0.71417	0.888000	0.34837	0.289000	0.27227	2.211000	0.42825	0.065000	0.16485	-0.234000	0.12200	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.319401	1	0.170000	NM_004667			15	14		209	206	0		1	1		0	0	31	0		9.998722e-01	6.197053e-01	0	2	0	28	0	15	209
HERC2	8924	broad.mit.edu	37	15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AAGCCCGGCTACCAGCATCGG	0.572																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(1789-1791)gTa>gCa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							171.0	118.0	136.0					15																	28510844		2203	4300	6503	SO:0001583	missense	8924	0	0					g.chr15:28510844A>G	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.1790T>C	chr15.hg19:g.28510844A>G	ENSP00000261609:p.Val597Ala	0						p.V597A	NM_004667.5	NP_004658.3	1	2	3	2.017291				14	1898	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.1790T>C	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	A	31	5.083169	0.94050	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.44	5.44	0.79542	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.92122	3.275	0.80722	D	1	D	0.62365	0.991	D	0.80764	0.994	D	0.96716	0.9529	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	597	O95714	HERC2_HUMAN	A	597	ENSP00000261609:V597A	ENSP00000261609:V597A	V	-	2	0	0	HERC2	26184439	26184439	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	8.806000	0.91930	2.202000	0.70862	0.491000	0.48974	GTA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_004667			72	71		347	343	1		1	1		0	0	84	0		1	8.381828e-01	0	6	0	12	0	72	347
HERC2	8924	broad.mit.edu	37	15	28510973	28510973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CATGGCCCAGCCGGCCGTAGT	0.627																																						ENST00000261609.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(1744-1746)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							51.0	48.0	49.0					15																	28510973		2203	4300	6503	SO:0001819	synonymous_variant	8924	0	0					g.chr15:28510973C>T	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.1746G>A	chr15.hg19:g.28510973C>T		0						p.R582R	NM_004667.5	NP_004658.3	1	2	3	2.017291				13	1854	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Silent	SNP	ENST00000261609.7	1	1	hg19	c.1746G>A	CCDS10021.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-20.000000	1	0.170000	NM_004667			56	54		273	268	1		1	1		0	0	64	0		1	9.832830e-01	0	9	0	25	0	56	273
HERC2	8924	broad.mit.edu	37	15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TGTGTGTACACGCGGCCATTG	0.557																																						ENST00000261609.7	1.000000	0.890000	1	9.900000e-01	0.990000	0.994025	0.990000	1.000000																										0				204						c.(1414-1416)Gtg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							88.0	67.0	74.0					15																	28514426		2203	4300	6503	SO:0001583	missense	8924	1	121410	24				g.chr15:28514426C>T	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.1414G>A	chr15.hg19:g.28514426C>T	ENSP00000261609:p.Val472Met	0						p.V472M	NM_004667.5	NP_004658.3	1	2	3	2.017291				11	1522	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		Missense_Mutation	SNP	ENST00000261609.7	1	1	hg19	c.1414G>A	CCDS10021.1	1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272161	0.40194	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.74	5.74	0.90152	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.065567	0.64402	D	0.000013	T	0.80874	0.4707	L	0.59912	1.85	0.51482	D	0.999924	P	0.47910	0.902	B	0.33521	0.165	D	0.84544	0.0640	10	0.87932	D	0	.	15.4685	0.75422	0.0:0.862:0.138:0.0	.	472	O95714	HERC2_HUMAN	M	472	ENSP00000261609:V472M	ENSP00000261609:V472M	V	-	1	0	0	HERC2	26188021	26188021	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.492000	0.66893	2.718000	0.92993	0.650000	0.86243	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_004667			17	16		123	120	1		1	0		0	0	25	0		9.999688e-01	4.551443e-01	0	1	0	11	0	17	123
APBA2	321	broad.mit.edu	37	15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000561069.1_Missense_Mutation_p.D368N|APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	368	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)			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)		AGACCTCATCGACGGGATCAT	0.537																																						ENST00000558402.1	1.000000	0.770000	1	9.000000e-01	0.990000	0.966710	0.990000	1.000000																										0				59						c.(1102-1104)Gac>Aac		amyloid beta (A4) precursor protein-binding, family A, member 2							118.0	107.0	111.0					15																	29385310		2203	4300	6503	SO:0001583	missense	321	1	121412	33				g.chr15:29385310G>A	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.1102G>A	chr15.hg19:g.29385310G>A	ENSP00000453293:p.Asp368Asn	0					APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N	p.D368N			1	2	3	2.017291	Q99767	APBA2_HUMAN		8	1701	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	1	1	hg19	c.1102G>A	CCDS10022.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303623	0.81136	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.54675	0.56	5.01	5.01	0.66863	5.01	5.01	0.66863	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.71674	0.863;0.86;0.998;0.936	B;B;P;B	0.60682	0.255;0.189;0.878;0.425	T	0.66352	-0.5945	10	0.56958	D	0.05	.	17.3238	0.87242	0.0:0.0:1.0:0.0	.	368;72;368;368	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	368;368;72	ENSP00000409312:D368N	ENSP00000219865:D368N	D	+	1	0	0	APBA2	27172602	27172602	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.318794	1	0.170000	NM_005503			42	41		437	433	0		1	0		0	0	90	0		1	4.542050e-01	0	0	0	17	0	42	437
APBA2	321	broad.mit.edu	37	15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000561069.1_Missense_Mutation_p.A461T|APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	461	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)			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)		CTCCTACATCGCCGACATTGG	0.587																																						ENST00000558402.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999843	0.990000	1.000000																										0				59						c.(1381-1383)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family A, member 2							106.0	75.0	85.0					15																	29393844		2203	4300	6503	SO:0001583	missense	321	0	0					g.chr15:29393844G>A	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.1381G>A	chr15.hg19:g.29393844G>A	ENSP00000453293:p.Ala461Thr	0					APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T	p.A461T			1	2	3	2.017291	Q99767	APBA2_HUMAN		11	1980	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	1	1	hg19	c.1381G>A	CCDS10022.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.312706	0.95655	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.32272	1.46	4.27	4.27	0.50696	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.130099	0.48767	D	0.000177	T	0.57198	0.2037	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.991;1.0;0.976;0.977	T	0.64158	-0.6473	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	449;153;449;461	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	449;461;153	ENSP00000409312:A449T	ENSP00000219865:A461T	A	+	1	0	0	APBA2	27181136	27181136	1.000000	0.71417	0.606000	0.28943	0.985000	0.73830	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_005503			21	21		108	107	1		1	0		0	0	29	0		9.999986e-01	8.537824e-01	0	0	0	20	0	21	108
NDNL2	56160	broad.mit.edu	37	15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	124	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532																																						ENST00000332303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(370-372)Ccc>Tcc		necdin-like 2							91.0	86.0	87.0					15																	29561540		2203	4300	6503	SO:0001583	missense	56160	0	0					g.chr15:29561540G>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.370C>T	chr15.hg19:g.29561540G>A	ENSP00000330694:p.Pro124Ser	0					FAM189A1_ENST00000261275.4_Intron	p.P124S	NM_138704.3	NP_619649.1	1	2	3	2.017291	Q96MG7	MAGG1_HUMAN		1	493	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	1	1	hg19	c.370C>T	CCDS10023.1	1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826058	0.16749	.	.	ENSG00000185115	ENST00000332303	T	0.05199	3.48	3.8	0.771	0.18504	3.8	0.771	0.18504	.	0.307886	0.30704	U	0.009044	T	0.10508	0.0257	L	0.59436	1.845	0.09310	N	0.999996	P	0.41498	0.752	P	0.51016	0.656	T	0.09164	-1.0687	10	0.48119	T	0.1	.	3.9345	0.09299	0.2245:0.1991:0.5764:0.0	.	124	Q96MG7	MAGG1_HUMAN	S	124	ENSP00000330694:P124S	ENSP00000330694:P124S	P	-	1	0	0	NDNL2	27348832	27348832	0.785000	0.28726	0.005000	0.12908	0.255000	0.26057	0.330000	0.19715	0.169000	0.19679	-0.251000	0.11542	CCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-2.842369	1	0.170000	NM_138704			86	85		482	472	1		1	1		0	0	88	0		1	1	0	29	0	119	0	86	482
TJP1	7082	broad.mit.edu	37	15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000346128.6	-	24	4743	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					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)				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)		GGGGAGTGGCCTGGATGGGTT	0.527																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(4267-4269)caG>caT		tight junction protein 1							174.0	188.0	184.0					15																	30003138		2061	4204	6265	SO:0001583	missense	7082	0	0					g.chr15:30003138C>A		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.4269G>T	chr15.hg19:g.30003138C>A	ENSP00000281537:p.Gln1423His	0					TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H	p.Q1423H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.017291	Q07157	ZO1_HUMAN		24	4743	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	1	1	hg19	c.4269G>T	CCDS42007.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395094	0.42512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.42131	0.98;0.98	5.62	3.53	0.40419	5.62	3.53	0.40419	.	0.201017	0.47093	D	0.000248	T	0.52549	0.1741	L	0.54323	1.7	0.21355	N	0.999712	D;D;P;D	0.65815	0.992;0.988;0.956;0.995	P;P;P;D	0.77004	0.838;0.847;0.564;0.989	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.0942	0.14725	0.2127:0.5753:0.0:0.212	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1423;1347;1423;1343;1343	ENSP00000281537:Q1423H;ENSP00000382890:Q1347H	ENSP00000281537:Q1423H	Q	-	3	2	2	TJP1	27790430	27790430	1.000000	0.71417	0.631000	0.29282	0.413000	0.31143	1.573000	0.36472	1.379000	0.46325	-0.136000	0.14681	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-20.000000	1	0.170000	NM_003257			166	156		757	732	1		1	1		0	0	159	0		1	1	0	53	0	152	0	166	757
TJP1	7082	broad.mit.edu	37	15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	rs141258029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000346128.6	-	21	3889	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1139					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)				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)		CTGTCGTAAGACAGAGGGGCT	0.537													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20578	0.0		0.0	False		,,,				2504	0.0				Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3415-3417)Tct>Cct		tight junction protein 1							144.0	146.0	145.0					15																	30010931		2092	4212	6304	SO:0001583	missense	7082	1	121068	34				g.chr15:30010931A>G		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.3415T>C	chr15.hg19:g.30010931A>G	ENSP00000281537:p.Ser1139Pro	0					TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P	p.S1139P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.017291	Q07157	ZO1_HUMAN		21	3889	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	1	1	hg19	c.3415T>C	CCDS42007.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.50	2.254561	0.39896	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08008	3.14;3.25	5.93	-2.63	0.06133	5.93	-2.63	0.06133	.	0.565561	0.20714	N	0.087029	T	0.06600	0.0169	L	0.56769	1.78	0.25561	N	0.986993	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.39692	T	0.17	.	2.7068	0.05164	0.2688:0.3544:0.2722:0.1047	.	1132;1059;1139;1063	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1139;1063;1139;1059;1059	ENSP00000281537:S1139P;ENSP00000382890:S1063P	ENSP00000281537:S1139P	S	-	1	0	0	TJP1	27798223	27798223	0.966000	0.33281	0.010000	0.14722	0.859000	0.49053	0.557000	0.23454	-0.367000	0.08052	0.460000	0.39030	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	0		2	2	2	0		0	0	167		167	165	1	2.060000	-20.000000	1	0.170000	NM_003257			129	123		650	626	1		1	1		0	0	167	0		1	1	0	44	0	127	0	129	650
TJP1	7082	broad.mit.edu	37	15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000346128.6	-	21	3801	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1109					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)				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)		CTTGAGAGTGCTGATTATCAA	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3325-3327)caG>caT		tight junction protein 1							215.0	213.0	214.0					15																	30011019		2087	4211	6298	SO:0001583	missense	7082	0	0					g.chr15:30011019C>A		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.3327G>T	chr15.hg19:g.30011019C>A	ENSP00000281537:p.Gln1109His	0					TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H	p.Q1109H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.017291	Q07157	ZO1_HUMAN		21	3801	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	1	1	hg19	c.3327G>T	CCDS42007.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042766	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.27	6.06	3.13	0.36017	6.06	3.13	0.36017	.	0.270402	0.43416	N	0.000561	T	0.14700	0.0355	L	0.58101	1.795	0.80722	D	1	D;D;D;B	0.62365	0.991;0.975;0.966;0.001	P;P;P;B	0.54140	0.646;0.743;0.641;0.007	T	0.01108	-1.1449	10	0.52906	T	0.07	.	6.8109	0.23805	0.0:0.6724:0.1273:0.2003	.	1102;1029;1109;1033	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1109;1033;1109;1029;1029	ENSP00000281537:Q1109H;ENSP00000382890:Q1033H	ENSP00000281537:Q1109H	Q	-	3	2	2	TJP1	27798311	27798311	0.999000	0.42202	0.988000	0.46212	0.959000	0.62525	0.657000	0.24963	0.424000	0.26061	-0.140000	0.14226	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	0	0		17	7	2	1		1	1	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_003257			120	119		612	600	1		1	1		1	0	145	0		1	1	0	53	0	150	0	120	612
TJP1	7082	broad.mit.edu	37	15	30012008	30012008	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000346128.6	-	20	3450	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	992					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)				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)		GCGACGACAATGATGGTTCTT	0.463																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2974-2976)tcA>tcG		tight junction protein 1							193.0	190.0	191.0					15																	30012008		2036	4182	6218	SO:0001819	synonymous_variant	7082	0	0					g.chr15:30012008T>C		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.2976A>G	chr15.hg19:g.30012008T>C		0					TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron	p.S992S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.017291	Q07157	ZO1_HUMAN		20	3450	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	1	1	hg19	c.2976A>G	CCDS42007.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_003257			114	110		541	530	1		1	1		0	0	145	0		1	9.999985e-01	0	32	0	59	0	114	541
TJP1	7082	broad.mit.edu	37	15	30065561	30065561	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000545208.2_Splice_Site	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1						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)				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)		ATCCAGGAGCCTAAAGTAAAA	0.318																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				68						c.e3-1		tight junction protein 1							81.0	73.0	76.0					15																	30065561		1812	4070	5882	SO:0001630	splice_region_variant	7082	0	0					g.chr15:30065561C>A		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.85-1G>T	chr15.hg19:g.30065561C>A		0					TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000400011.2_Splice_Site		NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.017291	Q07157	ZO1_HUMAN		3	559	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Splice_Site	SNP	ENST00000346128.6	1	1	hg19		CCDS42007.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274696	0.40194	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7625	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TJP1	27852853	27852853	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.701000	0.84566	2.749000	0.94314	0.585000	0.79938	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-19.999830	1	0.170000	NM_003257	Intron		50	49		287	281	1		1			0	0	101	0		1	0	0	0	0	0	0	50	287
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000299847.2	-	9	1123	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		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)		TACTGCAGCACGATCACCGTC	0.637																																						ENST00000299847.2	1.000000	0.400000	8.600000e-01	5.100000e-01	0.640000	0.680210	0.640000	0.620000																										0				6						c.(670-672)Gtg>Atg		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion							149.0	123.0	131.0					15																	30659671		2191	4288	6479	SO:0001583	missense	89832	1	121136	30				g.chr15:30659671C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.670G>A	chr15.hg19:g.30659671C>T	ENSP00000299847:p.Val224Met	0					CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M	p.V224M	NM_139320.1	NP_647536.1	1	2	3	2.017291	Q494W8	CRFM7_HUMAN		9	1123	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	1	1	hg19	c.670G>A	CCDS32184.1	0	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193467	0.78902	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.90504	-2.68;-2.68;-2.68	3.23	3.23	0.37069	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055343	0.64402	D	0.000001	D	0.96448	0.8841	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97057	0.9768	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	224	Q494W8	CRFM7_HUMAN	M	224;133;133	ENSP00000299847:V224M;ENSP00000380927:V133M;ENSP00000385389:V133M	ENSP00000299847:V224M	V	-	1	0	0	CHRFAM7A	28446963	28446963	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.312872	1	0.170000	NM_148911			21	21		379	370	0		1	0		0	0	89	0		9.999971e-01	2.783195e-01	0	1	0	18	0	21	379
ARHGAP11B	89839	broad.mit.edu	37	15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	94	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)			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)		TCTGTGATTCGCCTAAAAGCA	0.323																																						ENST00000428041.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(280-282)cGc>cAc		Rho GTPase activating protein 11B							75.0	79.0	77.0					15																	30925773		2202	4300	6502	SO:0001583	missense	89839	2	121398	32				g.chr15:30925773G>A	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.281G>A	chr15.hg19:g.30925773G>A	ENSP00000392760:p.Arg94His	0						p.R94H	NM_001039841.1	NP_001034930.1	1	2	3	2.017291	Q3KRB8	RHGBB_HUMAN		3	426	+		all_lung(180;2.71e-09)|Breast(32;0.00116)		Missense_Mutation	SNP	ENST00000428041.2	1	1	hg19	c.281G>A	CCDS32185.1	1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406947	0.42715	.	.	ENSG00000187951	ENST00000428041	T	0.20069	2.1	1.94	0.99	0.19807	1.94	0.99	0.19807	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	U	0.000254	T	0.39489	0.1080	M	0.76002	2.32	0.45515	D	0.998477	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.72032	D	0.01	.	6.5968	0.22679	0.1673:0.0:0.8327:0.0	.	94	Q3KRB8	RHGBB_HUMAN	H	94	ENSP00000392760:R94H	ENSP00000392760:R94H	R	+	2	0	0	ARHGAP11B	28713065	28713065	1.000000	0.71417	0.978000	0.43139	0.479000	0.33129	7.878000	0.87231	0.364000	0.24374	0.384000	0.25694	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	1	0	1		2	2	2	0		0	0	67		67	70	1	2.060000	-20.000000	1	0.170000	NM_001039841			65	63		301	290	1		1	0		0	0	67	0		1	0	0	1	0	0	0	65	301
TRPM1	4308	broad.mit.edu	37	15	31318431	31318431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000256552.6	-	27	3687	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.F1197F|TRPM1_ENST00000397795.2_Silent_p.F1158F|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557																																						ENST00000256552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3538-3540)ttC>ttT		transient receptor potential cation channel, subfamily M, member 1							54.0	57.0	56.0					15																	31318431		2102	4233	6335	SO:0001819	synonymous_variant	4308	0	0					g.chr15:31318431G>A	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.3540C>T	chr15.hg19:g.31318431G>A		0					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1158F|TRPM1_ENST00000542188.1_Silent_p.F1197F|RP11-348B17.1_ENST00000561299.1_RNA	p.F1180F	NM_001252024.1	NP_001238953.1	1	2	3	2.017291				27	3687	-		all_lung(180;1.92e-11)		Silent	SNP	ENST00000256552.6	1	1	hg19	c.3540C>T	CCDS58346.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	0		2	2	2	0		0	0	49		49	47	1	2.060000	-20.000000	1	0.170000	NM_002420			39	39		145	145	1		1			0	0	49	0		1	0	0	0	0	0	0	39	145
TRPM1	4308	broad.mit.edu	37	15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000256552.6	-	27	3674	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542																																						ENST00000256552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3526-3528)aGg>aTg		transient receptor potential cation channel, subfamily M, member 1							53.0	56.0	55.0					15																	31318444		2090	4219	6309	SO:0001583	missense	4308	0	0					g.chr15:31318444C>A	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.3527G>T	chr15.hg19:g.31318444C>A	ENSP00000256552:p.Arg1176Met	0					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|RP11-348B17.1_ENST00000561299.1_RNA	p.R1176M	NM_001252024.1	NP_001238953.1	1	2	3	2.017291				27	3674	-		all_lung(180;1.92e-11)		Missense_Mutation	SNP	ENST00000256552.6	1	1	hg19	c.3527G>T	CCDS58346.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082368	0.36758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.12774	2.65;2.65;2.65	5.5	2.09	0.27110	5.5	2.09	0.27110	.	0.280157	0.43260	D	0.000597	T	0.08670	0.0215	N	0.25992	0.78	0.20975	N	0.999819	B;B	0.22851	0.076;0.01	B;B	0.21917	0.037;0.011	T	0.23940	-1.0174	10	0.87932	D	0	-29.4723	5.458	0.16602	0.0:0.4423:0.0:0.5577	.	1148;1154	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1154;1193;1176;1154	ENSP00000380897:R1154M;ENSP00000437849:R1193M;ENSP00000256552:R1176M	ENSP00000256552:R1176M	R	-	2	0	0	TRPM1	29105736	29105736	0.276000	0.24211	0.847000	0.33407	0.717000	0.41224	0.641000	0.24720	0.785000	0.33685	-0.194000	0.12790	AGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_002420			39	39		138	136	1		1			0	0	49	0		1	0	0	0	0	0	0	39	138
TRPM1	4308	broad.mit.edu	37	15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000256552.6	-	23	3224	c.3077A>G	c.(3076-3078)tAc>tGc	p.Y1026C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488																																						ENST00000256552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3076-3078)tAc>tGc		transient receptor potential cation channel, subfamily M, member 1							149.0	152.0	151.0					15																	31323236		2161	4289	6450	SO:0001583	missense	4308	0	0					g.chr15:31323236T>C	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.3077A>G	chr15.hg19:g.31323236T>C	ENSP00000256552:p.Tyr1026Cys	0					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|RP11-348B17.1_ENST00000561299.1_RNA	p.Y1026C	NM_001252024.1	NP_001238953.1	1	2	3	2.017291				23	3224	-		all_lung(180;1.92e-11)		Missense_Mutation	SNP	ENST00000256552.6	1	1	hg19	c.3077A>G	CCDS58346.1	1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448492	0.84101	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98455	-4.94;-4.94;-4.94	6.05	6.05	0.98169	6.05	6.05	0.98169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77004	0.987;0.989	D	0.99846	1.1066	10	0.87932	D	0	-26.5266	16.5932	0.84781	0.0:0.0:0.0:1.0	.	998;1004	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1004;1043;1026;1004	ENSP00000380897:Y1004C;ENSP00000437849:Y1043C;ENSP00000256552:Y1026C	ENSP00000256552:Y1026C	Y	-	2	0	0	TRPM1	29110528	29110528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.320000	0.78422	0.528000	0.53228	TAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_002420			105	105		420	415	1		1			0	0	135	0		1	0	0	0	0	0	0	105	420
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000256552.6	-	20	2719		c.e20+1		RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373																																						ENST00000256552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Unknown(1)	p.?(1)	lung(1)	99						c.e20+1		transient receptor potential cation channel, subfamily M, member 1							148.0	131.0	137.0					15																	31329913		1869	4106	5975	SO:0001630	splice_region_variant	4308	0	0					g.chr15:31329913C>A	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.2571+1G>T	chr15.hg19:g.31329913C>A		0					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Splice_Site|TRPM1_ENST00000542188.1_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA		NM_001252024.1	NP_001238953.1	1	2	3	2.017291				20	2719	-		all_lung(180;1.92e-11)		Splice_Site	SNP	ENST00000256552.6	1	1	hg19		CCDS58346.1	1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772569	0.69992	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.88	4.88	0.63580	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TRPM1	29117205	29117205	1.000000	0.71417	0.976000	0.42696	0.694000	0.40290	7.776000	0.85560	2.420000	0.82092	0.655000	0.94253	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_002420	Intron		78	76		321	311	1		1			0	0	81	0		1	0	0	0	0	0	0	78	321
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000256552.6	-	17	2040	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527																																						ENST00000256552.6	1.000000	0.360000	1	5.100000e-01	0.720000	0.734912	0.720000	1.000000																										1	Substitution - coding silent(1)	p.Q609Q(1)	lung(1)	99						c.(1891-1893)caG>caT		transient receptor potential cation channel, subfamily M, member 1							68.0	75.0	73.0					15																	31334348		2177	4286	6463	SO:0001583	missense	4308	0	0					g.chr15:31334348C>A	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.1893G>T	chr15.hg19:g.31334348C>A	ENSP00000256552:p.Gln631His	0					TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|RP11-348B17.1_ENST00000561299.1_RNA	p.Q631H	NM_001252024.1	NP_001238953.1	1	2	3	2.017291				17	2040	-		all_lung(180;1.92e-11)		Missense_Mutation	SNP	ENST00000256552.6	1	1	hg19	c.1893G>T	CCDS58346.1	0	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010980	0.35511	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	2.78	0.32641	4.72	2.78	0.32641	.	0.179366	0.50627	D	0.000115	T	0.53916	0.1826	N	0.17474	0.49	0.45464	D	0.998439	B;B	0.14012	0.009;0.005	B;B	0.17433	0.018;0.008	T	0.54840	-0.8233	10	0.72032	D	0.01	-16.7394	11.5534	0.50733	0.0:0.8441:0.0:0.1559	.	603;609	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	609;648;631;609	ENSP00000380897:Q609H;ENSP00000437849:Q648H;ENSP00000256552:Q631H	ENSP00000256552:Q631H	Q	-	3	2	2	TRPM1	29121640	29121640	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.916000	0.28651	1.083000	0.41159	0.655000	0.94253	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-13.325560	1	0.170000	NM_002420			10	10		166	160	0		1			0	0	41	0		9.965866e-01	0	0	0	0	0	0	10	166
TRPM1	4308	broad.mit.edu	37	15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000256552.6	-	4	361	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493																																						ENST00000256552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(214-216)Agc>Cgc		transient receptor potential cation channel, subfamily M, member 1							383.0	365.0	371.0					15																	31362299		1945	4150	6095	SO:0001583	missense	4308	0	0					g.chr15:31362299T>G	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.214A>C	chr15.hg19:g.31362299T>G	ENSP00000256552:p.Ser72Arg	0					TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R	p.S72R	NM_001252024.1	NP_001238953.1	1	2	3	2.017291				4	361	-		all_lung(180;1.92e-11)		Missense_Mutation	SNP	ENST00000256552.6	1	1	hg19	c.214A>C	CCDS58346.1	1	.	.	.	.	.	.	.	.	.	.	T	9.985	1.229159	0.22542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.81415	-1.49;-1.49;-1.49	6.03	3.52	0.40303	6.03	3.52	0.40303	.	0.439281	0.20773	U	0.085936	T	0.80199	0.4579	L	0.31926	0.97	0.09310	N	0.999996	D;B	0.56968	0.978;0.177	P;B	0.60609	0.877;0.122	T	0.69217	-0.5203	10	0.52906	T	0.07	-25.2032	8.0341	0.30482	0.0:0.1021:0.3481:0.5498	.	50;50	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	50;89;72;50	ENSP00000380897:S50R;ENSP00000437849:S89R;ENSP00000256552:S72R	ENSP00000256552:S72R	S	-	1	0	0	TRPM1	29149591	29149591	0.893000	0.30496	1.000000	0.80357	0.996000	0.88848	0.322000	0.19576	1.053000	0.40415	0.533000	0.62120	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1		2	2	2	0		0	0	526		526	522	1	2.060000	-20.000000	1	0.170000	NM_002420			479	474		2078	2043	1		1			0	0	526	0		1	0	0	0	0	0	0	479	2078
OTUD7A	161725	broad.mit.edu	37	15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000307050.4	-	8	1141	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	350	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)			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)		TCTGTTGGGAGGGACCTCCAA	0.577																																						ENST00000307050.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1048-1050)cCt>cAt		OTU deubiquitinase 7A							148.0	131.0	137.0					15																	31793994		2202	4300	6502	SO:0001583	missense	161725	0	0					g.chr15:31793994G>T	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.1049C>A	chr15.hg19:g.31793994G>T	ENSP00000305926:p.Pro350His	0					OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	p.P350H	NM_130901.1	NP_570971.1	1	2	3	2.017291	Q8TE49	OTU7A_HUMAN		8	1141	-		all_lung(180;1.6e-09)	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	1	1	hg19	c.1049C>A	CCDS10026.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676297	0.67928	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.84	3.92	0.45320	4.84	3.92	0.45320	Ovarian tumour, otubain (2);	0.107611	0.64402	D	0.000004	T	0.50292	0.1607	M	0.77616	2.38	0.43835	D	0.996413	D;D	0.76494	0.998;0.999	P;D	0.65323	0.891;0.934	T	0.52540	-0.8562	10	0.72032	D	0.01	-4.3143	8.354	0.32318	0.2337:0.0:0.7663:0.0	.	357;350	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	350;357	ENSP00000305926:P350H;ENSP00000372358:P357H	ENSP00000305926:P350H	P	-	2	0	0	OTUD7A	29581286	29581286	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.820000	0.69250	1.135000	0.42183	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-2.895706	1	0.170000	NM_130901			98	98		449	442	1		1	0		0	0	111	0		1	1.519734e-01	0	1	0	3	0	98	449
OTUD7A	161725	broad.mit.edu	37	15	31818563	31818563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000307050.4	-	6	953	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_ENST00000382902.1_Silent_p.G294G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	287	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)			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)		CCCCGCCCGTGCCGCCATTCT	0.677																																						ENST00000307050.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999080	0.990000	1.000000																										0				30						c.(859-861)ggC>ggT		OTU deubiquitinase 7A							36.0	37.0	37.0					15																	31818563		2202	4300	6502	SO:0001819	synonymous_variant	161725	0	0					g.chr15:31818563G>A	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.861C>T	chr15.hg19:g.31818563G>A		0					OTUD7A_ENST00000382902.1_Silent_p.G294G	p.G287G	NM_130901.1	NP_570971.1	1	2	3	2.017291	Q8TE49	OTU7A_HUMAN		6	953	-		all_lung(180;1.6e-09)	Q8IWK5	Silent	SNP	ENST00000307050.4	1	1	hg19	c.861C>T	CCDS10026.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-19.999740	1	0.170000	NM_130901			13	13		62	61	1		1	1		0	0	16	0		9.996693e-01	1.576525e-01	0	2	0	2	0	13	62
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000307050.4	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	190	Catalytic. {ECO:0000250}.|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)			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)		GCACACAGTGGACCACCAGTT	0.527																																						ENST00000307050.4	1.000000	0.310000	8.700000e-01	4.300000e-01	0.600000	0.638552	0.600000	0.550000																										0				30						c.(568-570)tCc>tAc		OTU deubiquitinase 7A							110.0	94.0	99.0					15																	31822993		2201	4300	6501	SO:0001583	missense	161725	0	0					g.chr15:31822993G>T	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.569C>A	chr15.hg19:g.31822993G>T	ENSP00000305926:p.Ser190Tyr	0					OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	p.S190Y	NM_130901.1	NP_570971.1	1	2	3	2.017291	Q8TE49	OTU7A_HUMAN		4	661	-		all_lung(180;1.6e-09)	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	1	1	hg19	c.569C>A	CCDS10026.1	0	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433298	0.25813	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.52;1.51	6.06	5.15	0.70609	6.06	5.15	0.70609	.	0.053150	0.85682	D	0.000000	T	0.31104	0.0786	N	0.21142	0.635	0.48185	D	0.999606	D;P	0.55605	0.972;0.952	P;B	0.50440	0.641;0.438	T	0.04440	-1.0951	10	0.40728	T	0.16	-29.3876	15.4188	0.74995	0.0664:0.0:0.9336:0.0	.	190;190	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Y	190	ENSP00000305926:S190Y;ENSP00000372358:S190Y	ENSP00000305926:S190Y	S	-	2	0	0	OTUD7A	29610285	29610285	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.832000	0.92079	1.579000	0.49836	-0.145000	0.13849	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-3.341150	1	0.170000	NM_130901			11	11		221	215	0		1	0		0	0	63	0		9.982067e-01	0	0	0	0	1	0	11	221
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	G	A	rs201968105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	377					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)			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)	TGGCGCCGCCGCCCGCCAGCA	0.706																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999870	0.990000	1.000000																										0				12						c.(1129-1131)ccG>ccA		cholinergic receptor, nicotinic, alpha 7 (neuronal)	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)						21.0	28.0	26.0					15																	32460281		2191	4295	6486	SO:0001819	synonymous_variant	1139	4	120596	32				g.chr15:32460281G>A	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.1131G>A	chr15.hg19:g.32460281G>A		0					CHRNA7_ENST00000455693.2_Silent_p.P196P|CHRNA7_ENST00000454250.3_Silent_p.P406P	p.P377P	NM_000746.5	NP_000737.1	1	2	3	2.017291	P36544	ACHA7_HUMAN		10	1228	+		all_lung(180;6.35e-11)	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	1	1	hg19	c.1131G>A	CCDS10027.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2	0	0	1		2	2	2	0		0	0	73		73	78	1	2.060000	-2.443732	0	0.170000				63	63		471	448	0		1	0		0	0	73	0		1	1.429259e-02	0	0	0	2	0	63	471
ARHGAP11A	9824	broad.mit.edu	37	15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000361627.3	+	12	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	916					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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)		ATTGGTGCAATTTCAAAGTCA	0.368																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2746-2748)aTt>aGt		Rho GTPase activating protein 11A							98.0	99.0	98.0					15																	32929721		2201	4300	6501	SO:0001583	missense	9824	0	0					g.chr15:32929721T>G	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.2747T>G	chr15.hg19:g.32929721T>G	ENSP00000355090:p.Ile916Ser	0					ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	p.I916S	NM_014783.3	NP_055598.1	1	2	3	2.017291	Q6P4F7	RHGBA_HUMAN		12	3469	+		all_lung(180;1.3e-11)	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	1	1	hg19	c.2747T>G	CCDS10028.1	1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.295039	0.05532	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10860	2.83	4.55	0.908	0.19326	4.55	0.908	0.19326	.	0.936787	0.08882	N	0.879885	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.23442	0.085	B	0.22386	0.039	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.3575	0.21410	0.0:0.3165:0.0:0.6834	.	916	Q6P4F7	RHGBA_HUMAN	S	916;727	ENSP00000355090:I916S	ENSP00000355090:I916S	I	+	2	0	0	ARHGAP11A	30717013	30717013	0.275000	0.24201	0.015000	0.15790	0.020000	0.10135	0.298000	0.19120	0.283000	0.22279	0.482000	0.46254	ATT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_014783			74	74		389	385	1		1	1		0	0	86	0		1	9.490707e-01	0	9	0	19	0	74	389
FMN1	342184	broad.mit.edu	37	15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000559047.1	-	14	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y|FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y			Q68DA7	FMN1_HUMAN	formin 1	1291	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		CTCCTTTGGGGACTCCTTGCA	0.468																																						ENST00000559047.1	1.000000	0.760000	1	9.100000e-01	0.990000	0.969954	0.990000	1.000000																										0				29						c.(3871-3873)tCc>tAc		formin 1							132.0	132.0	132.0					15																	33149272		1955	4146	6101	SO:0001583	missense	342184	0	0					g.chr15:33149272G>T	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.3872C>A	chr15.hg19:g.33149272G>T	ENSP00000454047:p.Ser1291Tyr	0					FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y	p.S1291Y			1	2	3	2.017291	Q68DA7	FMN1_HUMAN		14	3871	-		all_lung(180;1.14e-07)	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	1	1	hg19	c.3872C>A		1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717737	0.68844	.	.	ENSG00000248905	ENST00000334528	T	0.66460	-0.21	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.056948	0.64402	D	0.000001	D	0.83059	0.5172	M	0.85373	2.75	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.86841	0.2017	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1068	Q68DA7-5	.	Y	1068	ENSP00000333950:S1068Y	ENSP00000333950:S1068Y	S	-	2	0	0	FMN1	30936564	30936564	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-11.417900	1	0.170000	NM_001103184			34	34		343	335	0		1	0		0	0	95	0		1	5.294483e-01	0	0	0	19	0	34	343
FMN1	342184	broad.mit.edu	37	15	33260974	33260974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000559047.1	-	5	2927	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	FMN1_ENST00000561249.1_Silent_p.I878I|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Silent_p.I753I			Q68DA7	FMN1_HUMAN	formin 1	976	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		AACTGGGCTCGATGGCTGGTT	0.507																																						ENST00000559047.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2926-2928)atC>atT		formin 1							123.0	119.0	120.0					15																	33260974		1838	4090	5928	SO:0001819	synonymous_variant	342184	2	120808	39				g.chr15:33260974G>A	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.2928C>T	chr15.hg19:g.33260974G>A		0					FMN1_ENST00000334528.9_Silent_p.I753I|FMN1_ENST00000561249.1_Silent_p.I878I|SNORD77_ENST00000391113.1_RNA	p.I976I			1	2	3	2.017291	Q68DA7	FMN1_HUMAN		5	2927	-		all_lung(180;1.14e-07)	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	1	1	hg19	c.2928C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_001103184			99	95		543	521	1		1	0		0	0	143	0		1	1.746915e-01	0	0	0	5	0	99	543
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A	rs202224266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*			Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		CAACCCCCTCGCCATCTGTGT	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		16763	0.0		0.001	False		,,,				2504	0.0					ENST00000559047.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2332-2334)Cga>Tga		formin 1							245.0	229.0	234.0					15																	33261570		1958	4161	6119	SO:0001587	stop_gained	342184	1	120888	41				g.chr15:33261570G>A	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.2332C>T	chr15.hg19:g.33261570G>A	ENSP00000454047:p.Arg778*	0					FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|SNORD77_ENST00000391113.1_RNA	p.R778*			1	2	3	2.017291	Q68DA7	FMN1_HUMAN		5	2331	-		all_lung(180;1.14e-07)	Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	ENST00000559047.1	0	1	hg19	c.2332C>T		1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	2	FMN1	31048862	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	0		18	2	2	0		0	1	236		236	236	1	2.060000	-20.000000	1	0.170000	NM_001103184			229	224		967	942	0		1	1		0	0	236	0		1	9.579281e-01	0	2	0	22	0	229	967
RYR3	6263	broad.mit.edu	37	15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	127	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			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)		ACTACATCAAGATCCCAGACA	0.463																																						ENST00000389232.4	1.000000	0.520000	1	8.100000e-01	0.990000	0.934125	0.990000	1.000000																										0				311						c.(379-381)aGa>aAa		ryanodine receptor 3							106.0	101.0	103.0					15																	33825537		1976	4163	6139	SO:0001583	missense	6263	0	0					g.chr15:33825537G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.380G>A	chr15.hg19:g.33825537G>A	ENSP00000373884:p.Arg127Lys	0					RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	p.R127K	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		5	450	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	0	1	hg19	c.380G>A	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588542	0.86851	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	4.73	0.59995	4.73	4.73	0.59995	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.72118	2.19	0.48185	D	0.999609	D;P	0.53312	0.959;0.951	D;P	0.65684	0.937;0.76	D	0.98945	1.0792	10	0.07990	T	0.79	.	17.5237	0.87793	0.0:0.0:1.0:0.0	.	127;127	Q15413-2;Q15413	.;RYR3_HUMAN	K	127	ENSP00000373884:R127K;ENSP00000399610:R127K	ENSP00000354735:R127K	R	+	2	0	0	RYR3	31612829	31612829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.442000	0.82660	0.655000	0.94253	AGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-11.650220	1	0.170000				6	6		55	53	1		1			0	0	22	0		9.639932e-01	0	0	0	0	0	0	6	55
RYR3	6263	broad.mit.edu	37	15	33855181	33855181	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	372	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			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)		AAGACGCCAAAACTTCCCGCC	0.448																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(1114-1116)aaA>aaG		ryanodine receptor 3							126.0	125.0	126.0					15																	33855181		1872	4105	5977	SO:0001819	synonymous_variant	6263	0	0					g.chr15:33855181A>G		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.1116A>G	chr15.hg19:g.33855181A>G		0					RYR3_ENST00000415757.3_Silent_p.K372K	p.K372K	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		11	1186	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.1116A>G	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000				83	82		383	375	1		1			0	0	102	0		1	0	0	0	0	0	0	83	383
RYR3	6263	broad.mit.edu	37	15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	428					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)			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)		AAACAATCGCACAGCTGCCCC	0.557																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				311						c.(1282-1284)Aca>Gca		ryanodine receptor 3							58.0	57.0	57.0					15																	33872190		2009	4186	6195	SO:0001583	missense	6263	1	120942	27				g.chr15:33872190A>G		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.1282A>G	chr15.hg19:g.33872190A>G	ENSP00000373884:p.Thr428Ala	0					RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	p.T428A	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		13	1352	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.1282A>G	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283132	0.10458	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96427	-4.01;-4.01	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.370359	0.29376	N	0.012324	D	0.88865	0.6553	N	0.17082	0.46	0.28262	N	0.924809	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.75838	-0.3176	10	0.06099	T	0.92	.	7.2164	0.25961	0.778:0.1465:0.0756:0.0	.	428;428	Q15413-2;Q15413	.;RYR3_HUMAN	A	428	ENSP00000373884:T428A;ENSP00000399610:T428A	ENSP00000354735:T428A	T	+	1	0	0	RYR3	31659482	31659482	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.266000	0.43320	2.160000	0.67779	0.533000	0.62120	ACA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				35	35		204	201	1		1			0	0	53	0		1	0	0	0	0	0	0	35	204
RYR3	6263	broad.mit.edu	37	15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	524					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)			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)		CTACAAATTGCTGGGTAAGTA	0.458																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(1570-1572)Ctg>Atg		ryanodine receptor 3							106.0	109.0	108.0					15																	33873841		1918	4134	6052	SO:0001583	missense	6263	0	0					g.chr15:33873841C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1570C>A	chr15.hg19:g.33873841C>A	ENSP00000373884:p.Leu524Met	0					RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	p.L524M	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		14	1640	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.1570C>A	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128371	0.37533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95918	-3.85;-3.85	5.31	3.44	0.39384	5.31	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97576	0.9206	M	0.88105	2.93	0.44221	D	0.99705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.97111	0.9804	10	0.87932	D	0	.	10.0129	0.41997	0.0:0.7247:0.0:0.2753	.	524;524	Q15413-2;Q15413	.;RYR3_HUMAN	M	524	ENSP00000373884:L524M;ENSP00000399610:L524M	ENSP00000354735:L524M	L	+	1	2	2	RYR3	31661133	31661133	0.987000	0.35691	0.990000	0.47175	0.406000	0.30931	1.186000	0.32078	0.626000	0.30322	-0.251000	0.11542	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				66	66		304	299	1		1			0	0	61	0		1	0	0	0	0	0	0	66	304
RYR3	6263	broad.mit.edu	37	15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	677	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			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)		ACAGCAGAGCCCACACATCTG	0.582																																						ENST00000389232.4	1.000000	0.270000	5.100000e-01	3.300000e-01	0.400000	0.462431	0.400000	0.390000																										0				311						c.(2029-2031)cCc>cTc		ryanodine receptor 3							153.0	159.0	157.0					15																	33895431		2008	4166	6174	SO:0001583	missense	6263	0	0					g.chr15:33895431C>T		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.2030C>T	chr15.hg19:g.33895431C>T	ENSP00000373884:p.Pro677Leu	0					RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	p.P677L	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		18	2100	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.2030C>T	CCDS45210.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.168315	0.94768	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062563	0.64402	D	0.000004	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	P;D	0.58268	0.873;0.982	B;P	0.59825	0.382;0.864	T	0.76085	-0.3088	10	0.87932	D	0	.	19.3248	0.94258	0.0:1.0:0.0:0.0	.	677;677	Q15413-2;Q15413	.;RYR3_HUMAN	L	677	ENSP00000373884:P677L;ENSP00000399610:P677L	ENSP00000354735:P677L	P	+	2	0	0	RYR3	31682723	31682723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.796000	0.96246	0.597000	0.82753	CCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0	0	1		2	2	2	0		0	0	191		191	188	1	2.060000	-3.152446	1	0.170000				32	33		943	920	0		1			0	0	191	0		1	0	0	0	0	0	0	32	943
RYR3	6263	broad.mit.edu	37	15	33926885	33926885	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1042	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			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)		AAGCTGTGCGCACTTTTGTTG	0.463																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(3124-3126)cgC>cgT		ryanodine receptor 3							155.0	152.0	153.0					15																	33926885		1927	4141	6068	SO:0001819	synonymous_variant	6263	0	0					g.chr15:33926885C>T		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.3126C>T	chr15.hg19:g.33926885C>T		0					RYR3_ENST00000415757.3_Silent_p.R1042R	p.R1042R	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		25	3196	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.3126C>T	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000				100	98		370	363	1		1			0	0	86	0		1	0	0	0	0	0	0	100	370
RYR3	6263	broad.mit.edu	37	15	33926918	33926918	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1053	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			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)		ACATTGAGCCATCAGACCAAG	0.458																																						ENST00000389232.4	1.000000	0.730000	1	8.600000e-01	0.990000	0.949636	0.990000	1.000000																										0				311						c.(3157-3159)ccA>ccG		ryanodine receptor 3							161.0	154.0	157.0					15																	33926918		1917	4134	6051	SO:0001819	synonymous_variant	6263	0	0					g.chr15:33926918A>G		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.3159A>G	chr15.hg19:g.33926918A>G		0					RYR3_ENST00000415757.3_Silent_p.P1053P	p.P1053P	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		25	3229	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.3159A>G	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				39	38		426	419	0		1			0	0	80	0		1	0	0	0	0	0	0	39	426
RYR3	6263	broad.mit.edu	37	15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1081	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.			A -> P (in Ref. 1; BAA23795). {ECO:0000305}.	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)			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)		CGATCTTATGCAGTGAGATCT	0.527																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				311						c.(3241-3243)gCa>gTa		ryanodine receptor 3							72.0	73.0	73.0					15																	33927881		2052	4232	6284	SO:0001583	missense	6263	0	0					g.chr15:33927881C>T		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.3242C>T	chr15.hg19:g.33927881C>T	ENSP00000373884:p.Ala1081Val	0					RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	p.A1081V	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		26	3312	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.3242C>T	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.224308	0.95139	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74209	-0.82;-0.82	5.32	5.32	0.75619	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.85416	0.1140	10	0.37606	T	0.19	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1081;1081	Q15413-2;Q15413	.;RYR3_HUMAN	V	1081	ENSP00000373884:A1081V;ENSP00000399610:A1081V	ENSP00000354735:A1081V	A	+	2	0	0	RYR3	31715173	31715173	1.000000	0.71417	0.836000	0.33094	0.901000	0.52897	7.559000	0.82265	2.760000	0.94817	0.655000	0.94253	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-15.627560	1	0.170000				27	27		145	142	1		1			0	0	31	0		1	0	0	0	0	0	0	27	145
RYR3	6263	broad.mit.edu	37	15	33936603	33936603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33936603C>A	ENST00000389232.4	+	28	3718	c.3648C>A	c.(3646-3648)tgC>tgA	p.C1216*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1216	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.C1216C(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)		ATACCATGTGCGGTCTCCAAG	0.522																																						ENST00000389232.4	1.000000	0.180000	9.500000e-01	3.200000e-01	0.540000	0.587734	0.540000	1.000000																										1	Substitution - coding silent(1)	p.C1216C(1)	large_intestine(1)	311						c.(3646-3648)tgC>tgA		ryanodine receptor 3							76.0	76.0	76.0					15																	33936603		1936	4144	6080	SO:0001587	stop_gained	6263	0	0					g.chr15:33936603C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3648C>A	chr15.hg19:g.33936603C>A	ENSP00000373884:p.Cys1216*	0					RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	p.C1216*	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		28	3718	+		all_lung(180;7.18e-09)	O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	0	1	hg19	c.3648C>A	CCDS45210.1	0	.	.	.	.	.	.	.	.	.	.	C	40	8.482325	0.98832	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.13	-9.61	0.00550	5.13	-9.61	0.00550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0701	0.97718	0.0:0.1782:0.0:0.8218	.	.	.	.	X	1216	.	ENSP00000354735:C1216X	C	+	3	2	2	RYR3	31723895	31723895	0.088000	0.21588	0.406000	0.26421	0.938000	0.57974	-0.638000	0.05452	-1.975000	0.00997	-1.648000	0.00760	TGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-4.022391	1	0.170000				4	4		98	93	0		1			0	0	24	0		8.796080e-01	0	0	0	0	0	0	4	98
RYR3	6263	broad.mit.edu	37	15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1598	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)			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)		CAACAAGTACCTCCCCGGCCT	0.582																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999147	0.990000	1.000000																										0				311						c.(4792-4794)Ctc>Ttc		ryanodine receptor 3							86.0	82.0	83.0					15																	33954523		2018	4189	6207	SO:0001583	missense	6263	0	0					g.chr15:33954523C>T		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.4792C>T	chr15.hg19:g.33954523C>T	ENSP00000373884:p.Leu1598Phe	0					RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	p.L1598F	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		35	4862	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.4792C>T	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567655	0.65651	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.76060	-0.99;-0.99	4.89	3.96	0.45880	4.89	3.96	0.45880	.	0.000000	0.64402	D	0.000005	D	0.84633	0.5515	M	0.83012	2.62	0.49213	D	0.999769	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.85319	0.1083	10	0.87932	D	0	.	8.4807	0.33040	0.0:0.7771:0.0:0.2229	.	1598;1598	Q15413-2;Q15413	.;RYR3_HUMAN	F	1598	ENSP00000373884:L1598F;ENSP00000399610:L1598F	ENSP00000354735:L1598F	L	+	1	0	0	RYR3	31741815	31741815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.494000	0.35616	1.270000	0.44297	0.650000	0.86243	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000				15	14		78	77	1		1			0	0	27	0		9.999044e-01	0	0	0	0	0	0	15	78
RYR3	6263	broad.mit.edu	37	15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1713	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)			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)		ATCCGAGACCCTGTAGGGGGG	0.562																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(5137-5139)cCt>cAt		ryanodine receptor 3							74.0	80.0	78.0					15																	33954869		2081	4238	6319	SO:0001583	missense	6263	0	0					g.chr15:33954869C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5138C>A	chr15.hg19:g.33954869C>A	ENSP00000373884:p.Pro1713His	0					RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	p.P1713H	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		35	5208	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.5138C>A	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351827	0.82132	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74737	-0.87;-0.87	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	D	0.88336	0.2971	10	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1713;1713	Q15413-2;Q15413	.;RYR3_HUMAN	H	1713	ENSP00000373884:P1713H;ENSP00000399610:P1713H	ENSP00000354735:P1713H	P	+	2	0	0	RYR3	31742161	31742161	1.000000	0.71417	0.970000	0.41538	0.818000	0.46254	7.411000	0.80078	2.826000	0.97356	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.162972	1	0.170000				74	73		282	280	1		1			0	0	73	0		1	0	0	0	0	0	0	74	282
RYR3	6263	broad.mit.edu	37	15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1866	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)			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)		GACCAAGGAGTTCCGCTCACC	0.552																																						ENST00000389232.4	1.000000	0.520000	1	8.000000e-01	0.990000	0.929136	0.990000	1.000000																										0				311						c.(5596-5598)Ttc>Ctc		ryanodine receptor 3							30.0	30.0	30.0					15																	33955915		1986	4147	6133	SO:0001583	missense	6263	0	0					g.chr15:33955915T>C		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.5596T>C	chr15.hg19:g.33955915T>C	ENSP00000373884:p.Phe1866Leu	0					RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	p.F1866L	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		36	5666	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	0	1	hg19	c.5596T>C	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.300383	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72942	-0.7;-0.7	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.84511	2.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.99;0.995	D	0.87923	0.2705	10	0.87932	D	0	.	15.3557	0.74425	0.0:0.0:0.0:1.0	.	1866;1866	Q15413-2;Q15413	.;RYR3_HUMAN	L	1866	ENSP00000373884:F1866L;ENSP00000399610:F1866L	ENSP00000354735:F1866L	F	+	1	0	0	RYR3	31743207	31743207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.820000	0.86633	2.203000	0.70933	0.459000	0.35465	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-12.906340	1	0.170000				7	7		68	67	1		1			0	0	19	0		9.814605e-01	0	0	0	0	0	0	7	68
RYR3	6263	broad.mit.edu	37	15	33988633	33988633	+	Silent	SNP	C	C	A	rs200936684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	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)			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)		GCCAAATCCGCTCCCTCCTCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(6073-6075)cgC>cgA		ryanodine receptor 3							84.0	90.0	88.0					15																	33988633		2118	4241	6359	SO:0001819	synonymous_variant	6263	1	121126	31				g.chr15:33988633C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6075C>A	chr15.hg19:g.33988633C>A		0					RYR3_ENST00000415757.3_Silent_p.R2025R	p.R2025R	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		39	6145	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.6075C>A	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				49	48		237	230	1		1			0	0	55	0		1	0	0	0	0	0	0	49	237
RYR3	6263	broad.mit.edu	37	15	34030740	34030740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2535	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)			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)		AAGAAGAGCTGCACCTAACGG	0.498											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(7603-7605)ctG>ctA		ryanodine receptor 3							107.0	116.0	113.0					15																	34030740		1928	4122	6050	SO:0001819	synonymous_variant	6263	0	0					g.chr15:34030740G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7605G>A	chr15.hg19:g.34030740G>A		0		OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	RYR3_ENST00000415757.3_Silent_p.L2535L	p.L2535L	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		50	7675	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.7605G>A	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				50	50		235	232	1		1			0	0	63	0		1	0	0	0	0	0	0	50	235
RYR3	6263	broad.mit.edu	37	15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	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)			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)		TGAGAAGCTTCGAAGTGTGTC	0.572																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999886	0.990000	1.000000																										0				311						c.(8113-8115)Cga>Tga		ryanodine receptor 3							65.0	70.0	68.0					15																	34040438		1954	4150	6104	SO:0001587	stop_gained	6263	0	0					g.chr15:34040438C>T		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.8113C>T	chr15.hg19:g.34040438C>T	ENSP00000373884:p.Arg2705*	0					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	p.R2705*	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		54	8183	+		all_lung(180;7.18e-09)	O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	0	1	hg19	c.8113C>T	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	50	16.492308	0.99864	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	.	.	.	X	2705	.	ENSP00000354735:R2705X	R	+	1	2	2	RYR3	31827730	31827730	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	4.110000	0.57831	2.679000	0.91253	0.655000	0.94253	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				29	29		170	167	1		1			0	0	34	0		1	0	0	0	0	0	0	29	170
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					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)			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)		TGGGAGCGGGGTCCTGAGAAC	0.572																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(9445-9447)gGt>gTt		ryanodine receptor 3							151.0	169.0	163.0					15																	34078040		2159	4268	6427	SO:0001583	missense	6263	0	0					g.chr15:34078040G>T		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.9446G>T	chr15.hg19:g.34078040G>T	ENSP00000373884:p.Gly3149Val	0					RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	p.G3149V	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		66	9516	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.9446G>T	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928608	0.92389	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85902	0.1435	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	V	3149	ENSP00000373884:G3149V;ENSP00000399610:G3149V	ENSP00000354735:G3149V	G	+	2	0	0	RYR3	31865332	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1		2	2	2	0		0	0	190		190	188	1	2.060000	-20.000000	1	0.170000				166	163		792	770	1		1			0	0	190	0		1	0	0	0	0	0	0	166	792
RYR3	6263	broad.mit.edu	37	15	34137128	34137128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4454					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)			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)		CCTTTAATGACGAGGAAGAGG	0.458																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(13360-13362)gaC>gaT		ryanodine receptor 3							130.0	121.0	124.0					15																	34137128		1933	4133	6066	SO:0001819	synonymous_variant	6263	2	120868	32				g.chr15:34137128C>T		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.13362C>T	chr15.hg19:g.34137128C>T		0					RYR3_ENST00000415757.3_Silent_p.D4449D	p.D4454D	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		93	13432	+		all_lung(180;7.18e-09)	O15175|Q15412	Silent	SNP	ENST00000389232.4	1	1	hg19	c.13362C>T	CCDS45210.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				43	42		172	169	1		1			0	0	54	0		1	0	0	0	0	0	0	43	172
RYR3	6263	broad.mit.edu	37	15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4463					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)			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)		CGATGGTATTCTTTGTCCTTC	0.488																																						ENST00000389232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				311						c.(13387-13389)ttC>ttA		ryanodine receptor 3							153.0	145.0	147.0					15																	34137155		1969	4156	6125	SO:0001583	missense	6263	0	0					g.chr15:34137155C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13389C>A	chr15.hg19:g.34137155C>A	ENSP00000373884:p.Phe4463Leu	0					RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	p.F4463L	NM_001036.3	NP_001027.3	1	2	3	2.017291	Q15413	RYR3_HUMAN		93	13459	+		all_lung(180;7.18e-09)	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	1	1	hg19	c.13389C>A	CCDS45210.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894511	0.33442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92858	-3.12	5.24	5.24	0.73138	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.339606	0.31495	N	0.007552	D	0.82870	0.5131	N	0.14661	0.345	0.37342	D	0.910447	B;B	0.23249	0.082;0.024	B;B	0.29524	0.058;0.103	T	0.77027	-0.2740	10	0.11182	T	0.66	.	9.4709	0.38842	0.0:0.8415:0.0:0.1585	.	4458;4463	Q15413-2;Q15413	.;RYR3_HUMAN	L	4463;4459	ENSP00000373884:F4463L	ENSP00000354735:F4459L	F	+	3	2	2	RYR3	31924447	31924447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.828000	0.27435	2.884000	0.98904	0.655000	0.94253	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000				62	61		248	244	1		1			0	0	79	0		1	0	0	0	0	0	0	62	248
CHRM5	1133	broad.mit.edu	37	15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	75					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)			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)	TTAGCCTGTGCAGATCTCATC	0.493																																						ENST00000383263.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(223-225)gCa>gTa		cholinergic receptor, muscarinic 5	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)						142.0	113.0	123.0					15																	34355142		2201	4298	6499	SO:0001583	missense	1133	0	0					g.chr15:34355142C>T		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.224C>T	chr15.hg19:g.34355142C>T	ENSP00000372750:p.Ala75Val	0					CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	p.A75V	NM_012125.3	NP_036257.1	1	2	3	2.017291	P08912	ACM5_HUMAN		3	894	+		all_lung(180;1.76e-08)	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	1	1	hg19	c.224C>T	CCDS10031.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864736	0.91511	.	.	ENSG00000184984	ENST00000383263	T	0.79454	-1.27	5.64	5.64	0.86602	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91248	0.5027	10	0.87932	D	0	-11.1248	19.8946	0.96949	0.0:1.0:0.0:0.0	.	75	P08912	ACM5_HUMAN	V	75	ENSP00000372750:A75V	ENSP00000372750:A75V	A	+	2	0	0	CHRM5	32142434	32142434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-19.995750	1	0.170000				41	40		205	199	1		1	0		0	0	48	0		1	0	0	0	0	1	0	41	205
CHRM5	1133	broad.mit.edu	37	15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	207					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)			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)	ATCCCTGTTTCTGTCATGACC	0.532																																						ENST00000383263.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(619-621)tCt>tAt		cholinergic receptor, muscarinic 5	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)						251.0	261.0	257.0					15																	34355538		2201	4298	6499	SO:0001583	missense	1133	0	0					g.chr15:34355538C>A		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.620C>A	chr15.hg19:g.34355538C>A	ENSP00000372750:p.Ser207Tyr	0					CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	p.S207Y	NM_012125.3	NP_036257.1	1	2	3	2.017291	P08912	ACM5_HUMAN		3	1290	+		all_lung(180;1.76e-08)	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	1	1	hg19	c.620C>A	CCDS10031.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948850	0.73787	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.32	5.32	0.75619	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.130454	0.53938	D	0.000044	T	0.68668	0.3026	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.72924	-0.4144	10	0.87932	D	0	-14.5017	19.1883	0.93653	0.0:1.0:0.0:0.0	.	207	P08912	ACM5_HUMAN	Y	207	ENSP00000372750:S207Y	ENSP00000372750:S207Y	S	+	2	0	0	CHRM5	32142830	32142830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.764000	0.94973	0.650000	0.86243	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1		2	2	2	0		0	0	286		286	285	1	2.060000	-20.000000	1	0.170000				265	259		1152	1130	1		1	0		0	0	286	0		1	0	0	0	0	1	0	265	1152
CHRM5	1133	broad.mit.edu	37	15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	268					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)			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)	AAAGGAACCAGGCCTCCTGGT	0.612																																						ENST00000383263.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(802-804)caG>caT		cholinergic receptor, muscarinic 5	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)						52.0	52.0	52.0					15																	34355722		2201	4298	6499	SO:0001583	missense	1133	0	0					g.chr15:34355722G>T		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.804G>T	chr15.hg19:g.34355722G>T	ENSP00000372750:p.Gln268His	0					CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	p.Q268H	NM_012125.3	NP_036257.1	1	2	3	2.017291	P08912	ACM5_HUMAN		3	1474	+		all_lung(180;1.76e-08)	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	1	1	hg19	c.804G>T	CCDS10031.1	1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195375	0.09599	.	.	ENSG00000184984	ENST00000383263	T	0.61980	0.06	5.42	1.22	0.21188	5.42	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.538533	0.19932	N	0.102821	T	0.55893	0.1949	M	0.65498	2.005	0.42048	D	0.991109	B	0.10296	0.003	B	0.12156	0.007	T	0.51092	-0.8749	10	0.54805	T	0.06	-2.3311	7.9424	0.29965	0.1768:0.1361:0.6871:0.0	.	268	P08912	ACM5_HUMAN	H	268	ENSP00000372750:Q268H	ENSP00000372750:Q268H	Q	+	3	2	2	CHRM5	32143014	32143014	1.000000	0.71417	0.663000	0.29738	0.146000	0.21551	0.908000	0.28545	0.051000	0.15978	0.650000	0.86243	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1		2	2	2	0		0	0	106		106	103	1	2.060000	-20.000000	1	0.170000				82	82		376	366	1		1			0	0	106	0		1	0	0	0	0	0	0	82	376
PGBD4	161779	broad.mit.edu	37	15	34394945	34394945	+	Silent	SNP	C	C	A	rs374986308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	71										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)		ACTCAGGGCGCTCCATGAAAT	0.458																																						ENST00000397766.2	1.000000	0.520000	1	6.600000e-01	0.840000	0.832452	0.840000	1.000000																										0				16						c.(211-213)cgC>cgA		piggyBac transposable element derived 4							76.0	70.0	72.0					15																	34394945		2201	4298	6499	SO:0001819	synonymous_variant	161779	0	0					g.chr15:34394945C>A	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.213C>A	chr15.hg19:g.34394945C>A		0					EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	p.R71R	NM_152595.4	NP_689808.2	1	2	3	2.017291	Q96DM1	PGBD4_HUMAN		1	672	+		all_lung(180;1.76e-08)	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	1	1	hg19	c.213C>A	CCDS10033.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	1		17	2	2	0		0	1	57		57	56	1	2.060000	-19.999940	1	0.170000				20	19		274	270	0		1	0		0	0	57	0		7.303265e-01	5.255255e-03	0	0	0	2	0	20	274
PGBD4	161779	broad.mit.edu	37	15	34395249	34395249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	173										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)		GAAACCTGAGCTGGAGATGTT	0.398																																						ENST00000397766.2	1.000000	0.220000	5.800000e-01	3.000000e-01	0.410000	0.472790	0.410000	0.380000																										0				16						c.(517-519)Ctg>Ttg		piggyBac transposable element derived 4							104.0	101.0	102.0					15																	34395249		2201	4298	6499	SO:0001819	synonymous_variant	161779	0	0					g.chr15:34395249C>T	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.517C>T	chr15.hg19:g.34395249C>T		0					EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	p.L173L	NM_152595.4	NP_689808.2	1	2	3	2.017291	Q96DM1	PGBD4_HUMAN		1	976	+		all_lung(180;1.76e-08)	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	1	1	hg19	c.517C>T	CCDS10033.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	0	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.530852	1	0.170000				14	14		413	406	0		1	0		0	0	93	0		9.997341e-01	0	0	0	0	1	0	14	413
PGBD4	161779	broad.mit.edu	37	15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										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)		GCAGTACCTCCCGACAAAACG	0.418																																						ENST00000397766.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(799-801)Ccg>Tcg		piggyBac transposable element derived 4							70.0	60.0	63.0					15																	34395531		2201	4298	6499	SO:0001583	missense	161779	0	0					g.chr15:34395531C>T	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.799C>T	chr15.hg19:g.34395531C>T	ENSP00000380872:p.Pro267Ser	0					EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	p.P267S	NM_152595.4	NP_689808.2	1	2	3	2.017291	Q96DM1	PGBD4_HUMAN		1	1258	+		all_lung(180;1.76e-08)	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	1	1	hg19	c.799C>T	CCDS10033.1	1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.807889	0.31961	.	.	ENSG00000182405	ENST00000397766	T	0.21543	2.0	0.801	-0.709	0.11237	0.801	-0.709	0.11237	.	1.950110	0.04017	N	0.299119	T	0.40839	0.1133	M	0.64997	1.995	0.22787	N	0.99874	D	0.76494	0.999	D	0.73708	0.981	T	0.24333	-1.0163	10	0.59425	D	0.04	.	6.0789	0.19931	0.0:0.6757:0.3243:0.0	.	267	Q96DM1	PGBD4_HUMAN	S	267	ENSP00000380872:P267S	ENSP00000380872:P267S	P	+	1	0	0	PGBD4	32182823	32182823	0.678000	0.27586	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.187000	0.10516	0.299000	0.19835	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-3.398720	1	0.170000				50	50		234	230	1		1	0		0	0	51	0		1	3.230915e-02	0	1	0	1	0	50	234
PGBD4	161779	broad.mit.edu	37	15	34395759	34395759	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	343										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)		TTTCAGAGAATTACATCAAAA	0.403																																						ENST00000397766.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1027-1029)Tta>Cta		piggyBac transposable element derived 4							88.0	85.0	86.0					15																	34395759		2201	4298	6499	SO:0001819	synonymous_variant	161779	0	0					g.chr15:34395759T>C	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.1027T>C	chr15.hg19:g.34395759T>C		0					EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	p.L343L	NM_152595.4	NP_689808.2	1	2	3	2.017291	Q96DM1	PGBD4_HUMAN		1	1486	+		all_lung(180;1.76e-08)	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	1	1	hg19	c.1027T>C	CCDS10033.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				74	74		315	310	0		1	1		0	0	73	0		1	2.456565e-01	0	2	0	3	0	74	315
SLC12A6	9990	broad.mit.edu	37	15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	942					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)			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)	GTGAAGATCCGTATGCTGCAC	0.428																																						ENST00000354181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2824-2826)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						283.0	217.0	240.0					15																	34529730		2201	4298	6499	SO:0001583	missense	9990	0	0					g.chr15:34529730G>A	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.2824C>T	chr15.hg19:g.34529730G>A	ENSP00000346112:p.Arg942Trp	0					SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W	p.R942W			1	2	3	2.017291	Q9UHW9	S12A6_HUMAN		22	3316	-		all_lung(180;2.78e-08)	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	1	1	hg19	c.2824C>T	CCDS58352.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.95470	3.675	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;0.991;0.998	D	0.99204	1.0874	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	927;942;891;754	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	891;927;933;883;883;754	ENSP00000290209:R891W;ENSP00000380819:R927W;ENSP00000380814:R883W;ENSP00000387725:R883W;ENSP00000390199:R754W	ENSP00000290209:R891W	R	-	1	2	2	SLC12A6	32317022	32317022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.662000	0.90505	0.563000	0.77884	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.297297	1	0.170000	NM_005135			76	76		327	320	1		1	1		0	0	69	0		1	9.997949e-01	0	10	0	46	0	76	327
SLC12A6	9990	broad.mit.edu	37	15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	834					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)			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)	CCTCTCTCAGCTTGGCGGCCA	0.557																																						ENST00000354181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2500-2502)aaG>aaT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						181.0	169.0	173.0					15																	34531296		2201	4298	6499	SO:0001583	missense	9990	0	0					g.chr15:34531296C>A	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.2502G>T	chr15.hg19:g.34531296C>A	ENSP00000346112:p.Lys834Asn	0					SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N	p.K834N			1	2	3	2.017291	Q9UHW9	S12A6_HUMAN		20	2994	-		all_lung(180;2.78e-08)	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	1	1	hg19	c.2502G>T	CCDS58352.1	1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261117	0.05791	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.97	-1.61	0.08399	4.97	-1.61	0.08399	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	N	0.01729	-0.75	0.48395	D	0.999641	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12156	0.001;0.007;0.003;0.002	T	0.66324	-0.5952	10	0.02654	T	1	.	10.0645	0.42295	0.0:0.41:0.0:0.59	.	819;834;783;646	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	783;819;825;775;775;646	ENSP00000290209:K783N;ENSP00000380819:K819N;ENSP00000380814:K775N;ENSP00000387725:K775N;ENSP00000390199:K646N	ENSP00000290209:K783N	K	-	3	2	2	SLC12A6	32318588	32318588	0.337000	0.24766	0.989000	0.46669	0.988000	0.76386	-0.131000	0.10482	-0.133000	0.11537	-0.252000	0.11476	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1		2	2	2	0		0	0	224		224	219	1	2.060000	-20.000000	1	0.170000	NM_005135			198	198		988	975	1		1	1		0	0	224	0		1	9.983934e-01	0	14	0	35	0	198	988
SLC12A6	9990	broad.mit.edu	37	15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	768					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)			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)	GACATGTAAGTCTTCATCTAG	0.488																																						ENST00000354181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2302-2304)gAc>gGc		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						96.0	77.0	83.0					15																	34532995		2201	4298	6499	SO:0001583	missense	9990	0	0					g.chr15:34532995T>C	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.2303A>G	chr15.hg19:g.34532995T>C	ENSP00000346112:p.Asp768Gly	0					SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G	p.D768G			1	2	3	2.017291	Q9UHW9	S12A6_HUMAN		19	2795	-		all_lung(180;2.78e-08)	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	1	1	hg19	c.2303A>G	CCDS58352.1	1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298737	0.60195	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P	0.42584	0.367;0.76;0.784;0.588	B;B;B;B	0.44224	0.059;0.416;0.444;0.206	D	0.93407	0.6765	10	0.66056	D	0.02	.	13.793	0.63152	0.0:0.0:0.0:1.0	.	753;768;717;580	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	717;753;759;709;709;580	ENSP00000290209:D717G;ENSP00000380819:D753G;ENSP00000380814:D709G;ENSP00000387725:D709G;ENSP00000390199:D580G	ENSP00000290209:D717G	D	-	2	0	0	SLC12A6	32320287	32320287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.086000	0.62901	0.482000	0.46254	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_005135			35	35		139	136	0		1	1		0	0	32	0		1	9.864278e-01	0	5	0	25	0	35	139
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	rs369334993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					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)			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)	GCCGTAGACACGCATGTTATT	0.453																																						ENST00000354181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(955-957)cGt>cAt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142.0	124.0	130.0		779,779,929,911,803,956	5.1	1.0	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense	9990	0	0					g.chr15:34546711C>T	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.956G>A	chr15.hg19:g.34546711C>T	ENSP00000346112:p.Arg319His	0					SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H	p.R319H			1	2	3	2.017291	Q9UHW9	S12A6_HUMAN		9	1448	-		all_lung(180;2.78e-08)	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	1	1	hg19	c.956G>A	CCDS58352.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	0	SLC12A6	32334003	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_005135			49	47		200	197	1		1	1		0	0	56	0		1	9.962665e-01	0	7	0	31	0	49	200
LPCAT4	254531	broad.mit.edu	37	15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	313					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCCACCACAATCACAGGTAA	0.537																																						ENST00000314891.6	1.000000	0.180000	4.700000e-01	2.500000e-01	0.330000	0.403731	0.330000	0.320000																										0				10						c.(937-939)aTt>aGt		lysophosphatidylcholine acyltransferase 4							109.0	105.0	106.0					15																	34654469		2201	4298	6499	SO:0001583	missense	254531	0	0					g.chr15:34654469A>C	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.938T>G	chr15.hg19:g.34654469A>C	ENSP00000317300:p.Ile313Ser	0					LPCAT4_ENST00000562431.1_5'Flank	p.I313S	NM_153613.2	NP_705841.2	1	2	3	2.017291	Q643R3	LPCT4_HUMAN		10	1115	-			A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	1	1	hg19	c.938T>G	CCDS32191.1	0	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459603	0.43736	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.35	4.22	0.49857	5.35	4.22	0.49857	.	0.502673	0.20331	N	0.094425	T	0.58694	0.2140	N	0.13168	0.305	0.36546	D	0.871549	B	0.02656	0.0	B	0.01281	0.0	T	0.55321	-0.8159	10	0.13853	T	0.58	-2.434	3.6788	0.08302	0.6844:0.0:0.3156:0.0	.	313	Q643R3	LPCT4_HUMAN	S	313	ENSP00000317300:I313S	ENSP00000317300:I313S	I	-	2	0	0	LPCAT4	32441761	32441761	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.021000	0.59480	0.482000	0.46254	ATT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	0	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-12.549690	1	0.170000	NM_153613			14	13		513	490	0		1	1		0	0	121	0		9.996662e-01	9.996323e-01	0	22	0	474	0	14	513
ACTC1	70	broad.mit.edu	37	15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	249					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532																																						ENST00000290378.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(745-747)Gtc>Ttc		actin, alpha, cardiac muscle 1							98.0	92.0	94.0					15																	35084354		2201	4298	6499	SO:0001583	missense	70	0	0					g.chr15:35084354C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.745G>T	chr15.hg19:g.35084354C>A	ENSP00000290378:p.Val249Phe	0					RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.V249F	NM_005159.4	NP_005150.1	0	1	1	1.989262	P68032	ACTC_HUMAN		5	1400	-		all_lung(180;2.3e-08)	P04270	Missense_Mutation	SNP	ENST00000290378.4	1	1	hg19	c.745G>T	CCDS10041.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94758	-3.51	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.000000	0.47093	U	0.000258	D	0.97841	0.9291	H	0.96576	3.845	0.80722	D	1	P	0.39535	0.677	P	0.51918	0.684	D	0.99364	1.0918	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	249	P68032	ACTC_HUMAN	F	249;214	ENSP00000290378:V249F	ENSP00000290378:V249F	V	-	1	0	0	ACTC1	32871646	32871646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	0	0	1		2	2	2	1		1	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_005159			63	61		234	231	1		1			1	0	70	0		1	0	0	0	0	0	0	63	234
AQR	9716	broad.mit.edu	37	15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	647					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)		CATACACATCCTCTGCTCCAT	0.328																																						ENST00000156471.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				57						c.(1939-1941)gaG>gaT		aquarius intron-binding spliceosomal factor							104.0	95.0	98.0					15																	35196597		1805	4065	5870	SO:0001583	missense	9716	0	0					g.chr15:35196597C>A	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.1941G>T	chr15.hg19:g.35196597C>A	ENSP00000156471:p.Glu647Asp	0						p.E647D	NM_014691.2	NP_055506.1	0	1	1	1.989262	O60306	AQR_HUMAN		19	2166	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	1	1	hg19	c.1941G>T	CCDS42013.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780978	0.31502	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94138	-3.36	5.26	1.72	0.24424	5.26	1.72	0.24424	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	L	0.33710	1.025	0.40691	D	0.982397	B	0.12630	0.006	B	0.16289	0.015	T	0.76080	-0.3090	10	0.22109	T	0.4	-18.8299	7.9653	0.30095	0.0:0.3197:0.0:0.6803	.	647	O60306	AQR_HUMAN	D	647	ENSP00000156471:E647D	ENSP00000156471:E647D	E	-	3	2	2	AQR	32983889	32983889	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.569000	0.45973	0.413000	0.25759	-0.302000	0.09304	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.232241	1	0.170000	NM_014691			45	45		248	241	1		1	1		0	0	40	0		1	9.999426e-01	0	26	0	57	0	45	248
ZNF770	54989	broad.mit.edu	37	15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	639					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423																																						ENST00000356321.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1915-1917)aAa>aGa		zinc finger protein 770							146.0	134.0	138.0					15																	35273720		2201	4298	6499	SO:0001583	missense	54989	0	0					g.chr15:35273720T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1916A>G	chr15.hg19:g.35273720T>C	ENSP00000348673:p.Lys639Arg	0						p.K639R	NM_014106.3	NP_054825.2	0	1	1	1.989262	Q6IQ21	ZN770_HUMAN		3	2260	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	1	1	hg19	c.1916A>G	CCDS10042.1	1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611236	0.46631	.	.	ENSG00000198146	ENST00000356321	T	0.27890	1.64	5.27	5.27	0.74061	5.27	5.27	0.74061	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	0.25005	0.0607	N	0.11364	0.135	0.23716	N	0.997036	P	0.48503	0.911	P	0.54460	0.753	T	0.13045	-1.0524	10	0.15066	T	0.55	-13.6585	10.5307	0.44975	0.0:0.0751:0.0:0.9249	.	639	Q6IQ21	ZN770_HUMAN	R	639	ENSP00000348673:K639R	ENSP00000348673:K639R	K	-	2	0	0	ZNF770	33061012	33061012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.219000	0.72066	0.460000	0.39030	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_014106			111	109		512	504	1		1	1		0	0	121	0		1	9.999948e-01	0	25	0	56	0	111	512
ZNF770	54989	broad.mit.edu	37	15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	189					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348																																						ENST00000356321.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				29						c.(565-567)aAa>aCa		zinc finger protein 770							61.0	60.0	61.0					15																	35275070		2201	4298	6499	SO:0001583	missense	54989	0	0					g.chr15:35275070T>G	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.566A>C	chr15.hg19:g.35275070T>G	ENSP00000348673:p.Lys189Thr	0						p.K189T	NM_014106.3	NP_054825.2	0	1	1	1.989262	Q6IQ21	ZN770_HUMAN		3	910	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	1	1	hg19	c.566A>C	CCDS10042.1	1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751978	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.18810	2.19	5.28	4.13	0.48395	5.28	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.312282	0.25833	N	0.028016	T	0.26666	0.0652	L	0.39633	1.23	0.30520	N	0.768574	P	0.44776	0.843	P	0.51866	0.682	T	0.07102	-1.0790	10	0.34782	T	0.22	-6.6884	11.1873	0.48664	0.0:0.0:0.2942:0.7058	.	189	Q6IQ21	ZN770_HUMAN	T	189	ENSP00000348673:K189T	ENSP00000348673:K189T	K	-	2	0	0	ZNF770	33062362	33062362	0.430000	0.25538	1.000000	0.80357	0.994000	0.84299	0.305000	0.19254	0.986000	0.38683	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_014106			37	35		179	175	1		1	1		0	0	64	0		1	9.994836e-01	0	14	0	45	0	37	179
ZNF770	54989	broad.mit.edu	37	15	35275451	35275451	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275451T>C	ENST00000356321.4	-	3	529	c.185A>G	c.(184-186)aAa>aGa	p.K62R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	62					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTAAAGGTTTTATGACACAC	0.348																																						ENST00000356321.4	0.500000	0.120000	3.900000e-01	1.800000e-01	0.270000	0.290953	0.270000	0.260000																										0				29						c.(184-186)aAa>aGa		zinc finger protein 770							76.0	74.0	75.0					15																	35275451		2201	4298	6499	SO:0001583	missense	54989	0	0					g.chr15:35275451T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.185A>G	chr15.hg19:g.35275451T>C	ENSP00000348673:p.Lys62Arg	0						p.K62R	NM_014106.3	NP_054825.2	0	1	1	1.989262	Q6IQ21	ZN770_HUMAN		3	529	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	0	1	hg19	c.185A>G	CCDS10042.1	0	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236829	0.58886	.	.	ENSG00000198146	ENST00000356321	T	0.26223	1.75	5.0	5.0	0.66597	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	0.64402	D	0.000001	T	0.42063	0.1186	L	0.39245	1.2	0.42829	D	0.994015	D	0.76494	0.999	D	0.87578	0.998	T	0.34054	-0.9844	10	0.66056	D	0.02	-12.231	14.0763	0.64891	0.0:0.0:0.0:1.0	.	62	Q6IQ21	ZN770_HUMAN	R	62	ENSP00000348673:K62R	ENSP00000348673:K62R	K	-	2	0	0	ZNF770	33062743	33062743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.962000	0.70364	2.100000	0.63781	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	0	0	1		2	2	2	0		0	0	62		62	64	1	2.060000	-3.453565	1	0.170000	NM_014106			7	7		308	302	0		1	0		0	0	62	0		9.795481e-01	4.498598e-01	0	1	0	61	0	7	308
C15orf41	84529	broad.mit.edu	37	15	36984338	36984338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428																																						ENST00000566621.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				12						c.(436-438)aaC>aaT		chromosome 15 open reading frame 41							95.0	87.0	90.0					15																	36984338		1861	4091	5952	SO:0001819	synonymous_variant	84529	0	0					g.chr15:36984338C>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.438C>T	chr15.hg19:g.36984338C>T		0					C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N	p.N146N	NM_001130010.1	NP_001123482.1	0	1	1	1.989262	Q9Y2V0	CO041_HUMAN		7	688	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	B2RD87	Silent	SNP	ENST00000566621.1	1	1	hg19	c.438C>T	CCDS45215.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-15.056600	1	0.170000	NM_032499			24	24		117	116	1		1	1		0	0	24	0		9.999998e-01	8.529647e-01	0	6	0	13	0	24	117
MEIS2	4212	broad.mit.edu	37	15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000561208.1	-	6	1022	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K			O14770	MEIS2_HUMAN	Meis homeobox 2	202	Ser/Thr-rich.				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)			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)		CCTGAAAGTTCTTCATGATCT	0.448																																						ENST00000561208.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(604-606)Gaa>Aaa		Meis homeobox 2							156.0	137.0	144.0					15																	37385817		2201	4297	6498	SO:0001583	missense	4212	0	0					g.chr15:37385817C>T	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.604G>A	chr15.hg19:g.37385817C>T	ENSP00000453793:p.Glu202Lys	0					MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E202K	p.E202K			0	1	1	1.989262	O14770	MEIS2_HUMAN		6	1022	-		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)	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	1	1	hg19	c.604G>A	CCDS10044.1	1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637900	0.67130	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	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	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.31730	0.032;0.337;0.228;0.03;0.089;0.142;0.159;0.03	B;B;B;B;B;B;B;B	0.35278	0.044;0.199;0.071;0.062;0.075;0.044;0.06;0.044	T	0.02743	-1.1116	10	0.42905	T	0.14	-0.1362	20.5568	0.99304	0.0:1.0:0.0:0.0	.	189;202;202;202;202;56;114;189	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	K	202;202;202;202;202;189;189;114;56	ENSP00000326296:E202K;ENSP00000341400:E202K;ENSP00000372216:E202K;ENSP00000404185:E202K;ENSP00000391887:E202K;ENSP00000339549:E189K;ENSP00000380745:E114K;ENSP00000219869:E56K	ENSP00000219869:E56K	E	-	1	0	0	MEIS2	35173109	35173109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_170677			55	54		303	297	1		1	1		0	0	65	0		1	9.980115e-01	0	6	0	48	0	55	303
MEIS2	4212	broad.mit.edu	37	15	37390266	37390266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000561208.1	-	2	565	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000338564.5_Silent_p.Q49Q|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000559085.1_Silent_p.Q36Q|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000559561.1_Silent_p.Q49Q			O14770	MEIS2_HUMAN	Meis homeobox 2	49					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)			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)		CGCCGTAGTGCTGTGTGGCGT	0.672																																						ENST00000561208.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(145-147)caG>caA		Meis homeobox 2							54.0	56.0	55.0					15																	37390266		2200	4296	6496	SO:0001819	synonymous_variant	4212	0	0					g.chr15:37390266C>T	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.147G>A	chr15.hg19:g.37390266C>T		0					MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000559085.1_Silent_p.Q36Q|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000338564.5_Silent_p.Q49Q	p.Q49Q			0	1	1	1.989262	O14770	MEIS2_HUMAN		2	565	-		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)	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	1	1	hg19	c.147G>A	CCDS10044.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_170677			94	93		398	391	1		1	1		0	0	60	0		1	8.378426e-01	0	3	0	13	0	94	398
RASGRP1	10125	broad.mit.edu	37	15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	618					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)			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)		TCTTTGGCTCCCAATGAGCAA	0.468																																						ENST00000310803.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1852-1854)Gga>Tga		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							111.0	109.0	109.0					15																	38791016		1873	4095	5968	SO:0001587	stop_gained	10125	0	0					g.chr15:38791016C>A	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.1852G>T	chr15.hg19:g.38791016C>A	ENSP00000310244:p.Gly618*	0					RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*	p.G618*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	0	1	1	1.989262	O95267	GRP1_HUMAN		15	2029	-		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)	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	0	1	hg19	c.1852G>T	CCDS45222.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.629023	0.96671	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.399974	0.27130	N	0.020800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4143	19.34	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	X	618;583;583;570	.	ENSP00000310244:G618X	G	-	1	0	0	RASGRP1	36578308	36578308	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.190000	0.65104	2.808000	0.96608	0.655000	0.94253	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-3.131152	1	0.170000	NM_005739			100	101		436	427	0		1	0		0	0	99	0		1	8.520699e-01	0	1	0	16	0	100	436
RASGRP1	10125	broad.mit.edu	37	15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	304	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)			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)		CGAGATTGAGCTGTGACACAG	0.488																																						ENST00000310803.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(910-912)aGc>aAc		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							125.0	125.0	125.0					15																	38803860		1996	4175	6171	SO:0001583	missense	10125	0	0					g.chr15:38803860C>T	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.911G>A	chr15.hg19:g.38803860C>T	ENSP00000310244:p.Ser304Asn	0					RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N	p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	0	1	1	1.989262	O95267	GRP1_HUMAN		8	1088	-		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)	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	1	1	hg19	c.911G>A	CCDS45222.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046704	0.93740	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.998	T	0.64753	-0.6333	10	0.87932	D	0	-24.3189	19.0978	0.93260	0.0:1.0:0.0:0.0	.	304;304;304;304	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	N	304;304;304;304;256;304;304	ENSP00000310244:S304N;ENSP00000388540:S304N;ENSP00000444762:S256N;ENSP00000413105:S304N	ENSP00000310244:S304N	S	-	2	0	0	RASGRP1	36591152	36591152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.745021	1	0.170000	NM_005739			75	75		282	281	1		1	0		0	0	67	0		1	7.910257e-01	0	0	0	13	0	75	282
C15orf54	400360	broad.mit.edu	37	15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458																																						ENST00000318578.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(370-372)Cct>Tct		chromosome 15 open reading frame 54							133.0	119.0	124.0					15																	39544706		2200	4297	6497	SO:0001583	missense	400360	0	0					g.chr15:39544706C>T		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.370C>T	chr15.hg19:g.39544706C>T	ENSP00000323686:p.Pro124Ser	0					RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000560484.1_RNA	p.P124S	NM_207445.2	NP_997328.1	0	1	1	1.989262	Q8N8G6	CO054_HUMAN		2	738	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	1	1	hg19	c.370C>T	CCDS10049.1	1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687291	0.14973	.	.	ENSG00000175746	ENST00000318578	T	0.40756	1.02	5.07	2.71	0.32032	5.07	2.71	0.32032	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	0.999994	B	0.12013	0.005	B	0.10450	0.005	T	0.22800	-1.0206	9	0.87932	D	0	.	9.227	0.37414	0.6178:0.3822:0.0:0.0	.	124	Q8N8G6	CO054_HUMAN	S	124	ENSP00000323686:P124S	ENSP00000323686:P124S	P	+	1	0	0	C15orf54	37331998	37331998	0.710000	0.27896	0.189000	0.23252	0.044000	0.14063	1.137000	0.31479	0.387000	0.25024	-0.262000	0.10625	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	1	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-20.000000	1	0.170000	NM_207445			111	110		514	498	1		1			0	0	135	0		1	0	0	0	0	0	0	111	514
THBS1	7057	broad.mit.edu	37	15	39885650	39885651	+	Missense_Mutation	DNP	CG	CG	TA	rs566389840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C|G	T|A	C|G	C|G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650_39885651CG>TA	ENST00000260356.5	+	19	3213_3214	c.3048_3049CG>TA	c.(3046-3051)acCGaa>acTAaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				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)			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)		TCATCAACACCGAAAGGGACGA	0.495																																						ENST00000260356.5	1.000000|0.630000	0.990000|0.370000	1|5.700000e-01	9.900000e-01|4.300000e-01	0.990000|0.490000	1.000000|0.503944	0.990000|0.490000	1.000000|0.490000																										0				53						c.(3046-3048)acC>acT|c.(3049-3051)Gaa>Aaa		thrombospondin 1																																				SO:0001583	missense	7057	1	121412	36|37				g.chr15:39885650C>T|g.chr15:39885651G>A		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	Exception_encountered	chr15.hg19:g.39885650_39885651delinsTA	ENSP00000260356:p.Glu1017Lys	0					CTD-2033D15.1_ENST00000560769.1_RNA	p.T1016T|p.E1017K	NM_003246.2	NP_003237.2	0	1	1	1.989262	P07996	TSP1_HUMAN		19	3213|3214	+		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)	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent|Missense_Mutation	SNP	ENST00000260356.5	1	1|0	hg19	c.3048C>T|c.3049G>A	CCDS32194.1	1|0																									|5.77	|5.77	|0.91146																																												|0			|37672943														1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.495	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	1		2	2	2	0		0	0	296		303|296	302|296	1	2.060000	-2.330057|-4.181722	0|1	0.170000	NM_003246			223|56	222|56		1126|1262	1101|1239	1|0		1	1		0	0	303|296	0		1	1	0	37|11	0	869|907	0	56	1126
THBS1	7057	broad.mit.edu	37	15	39886550	39886550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1138	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				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)			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)		CAGGACCCATCTATGATAAAA	0.388																																						ENST00000260356.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3412-3414)atC>atT		thrombospondin 1							138.0	132.0	134.0					15																	39886550		2200	4297	6497	SO:0001819	synonymous_variant	7057	0	0					g.chr15:39886550C>T		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.3414C>T	chr15.hg19:g.39886550C>T		0					CTD-2033D15.1_ENST00000560769.1_RNA	p.I1138I	NM_003246.2	NP_003237.2	0	1	1	1.989262	P07996	TSP1_HUMAN		21	3579	+		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)	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	1	1	hg19	c.3414C>T	CCDS32194.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_003246			69	69		349	345	1		1	1		0	0	94	0		1	1	0	38	0	698	0	69	349
FSIP1	161835	broad.mit.edu	37	15	40005738	40005738	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	365										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)		GTATCTTTTCTCCTGGAGTTA	0.378																																						ENST00000350221.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1093-1095)ggA>ggC		fibrous sheath interacting protein 1							225.0	219.0	221.0					15																	40005738		2203	4300	6503	SO:0001819	synonymous_variant	161835	0	0					g.chr15:40005738T>G	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.1095A>C	chr15.hg19:g.40005738T>G		0						p.G365G	NM_152597.4	NP_689810.3	0	1	1	1.989262	Q8NA03	FSIP1_HUMAN		10	1304	-		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)	Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	1	1	hg19	c.1095A>C	CCDS10050.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	1	0	1		2	2	2	0		0	0	132		132	129	1	2.060000	-20.000000	1	0.170000	NM_152597			180	175		864	842	1		1	0		0	0	132	0		1	3.002216e-02	0	1	0	1	0	180	864
FSIP1	161835	broad.mit.edu	37	15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	316										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)		GCTGCTGATGCTGGGTGACTG	0.443																																						ENST00000350221.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(946-948)caG>caT		fibrous sheath interacting protein 1							87.0	83.0	85.0					15																	40018892		2203	4300	6503	SO:0001583	missense	161835	0	0					g.chr15:40018892C>A	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.948G>T	chr15.hg19:g.40018892C>A	ENSP00000280236:p.Gln316His	0						p.Q316H	NM_152597.4	NP_689810.3	0	1	1	1.989262	Q8NA03	FSIP1_HUMAN		9	1157	-		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)	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	1	1	hg19	c.948G>T	CCDS10050.1	1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451852	0.43531	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.540943	0.18233	N	0.147512	T	0.40886	0.1135	L	0.60455	1.87	0.30993	N	0.72124	P	0.52061	0.95	P	0.57620	0.824	T	0.30119	-0.9989	9	.	.	.	-3.3257	13.1909	0.59711	0.0:1.0:0.0:0.0	.	316	Q8NA03	FSIP1_HUMAN	H	316	ENSP00000280236:Q316H	.	Q	-	3	2	2	FSIP1	37806184	37806184	0.995000	0.38212	0.895000	0.35142	0.198000	0.23893	3.018000	0.49625	2.832000	0.97577	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_152597			51	49		192	184	1		1	0		0	0	44	0		1	4.572756e-02	0	1	0	1	0	51	192
EIF2AK4	440275	broad.mit.edu	37	15	40269004	40269004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	736	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)			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)		ACGAGGACGACGACGAGGACG	0.657																																						ENST00000263791.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				40						c.(2206-2208)gaC>gaT		eukaryotic translation initiation factor 2 alpha kinase 4							48.0	52.0	51.0					15																	40269004		1792	3889	5681	SO:0001819	synonymous_variant	440275	0	0					g.chr15:40269004C>T	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.2208C>T	chr15.hg19:g.40269004C>T		0					EIF2AK4_ENST00000382727.2_Silent_p.D736D	p.D736D	NM_001013703.2	NP_001013725.2	0	1	1	1.989262	Q9P2K8	E2AK4_HUMAN		12	2251	+		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)	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	1	1	hg19	c.2208C>T	CCDS42016.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1	1	0	1		2	2	2	0		0	0	98		98	94	1	2.060000	-20.000000	1	0.170000				84	84		612	601	0		1	1		0	0	98	0		1	9.636585e-01	0	14	0	27	0	84	612
EIF2AK4	440275	broad.mit.edu	37	15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T	rs372621513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1236	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)			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)		GAGAAGCTGACGAGGAGAGAA	0.373													C|||	6	0.00119808	0.0	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0061					ENST00000263791.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(3706-3708)aCg>aTg		eukaryotic translation initiation factor 2 alpha kinase 4		C	MET/THR	0,3748		0,0,1874	109.0	110.0	110.0		3707	6.0	1.0	15		110	1,8219		0,1,4109	no	missense	EIF2AK4	NM_001013703.2	81	0,1,5983	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1236/1650	40303495	1,11967	1874	4110	5984	SO:0001583	missense	440275	0	0					g.chr15:40303495C>T	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.3707C>T	chr15.hg19:g.40303495C>T	ENSP00000263791:p.Thr1236Met	0					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	p.T1236M	NM_001013703.2	NP_001013725.2	0	1	1	1.989262	Q9P2K8	E2AK4_HUMAN		27	3750	+		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)	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	1	1	hg19	c.3707C>T	CCDS42016.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669489	0.88348	0.0	1.22E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.43294	0.95;0.95	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.42905	T	0.14	-15.7224	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1208;1236	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	M	1236;1208	ENSP00000263791:T1236M;ENSP00000372174:T1208M	ENSP00000263791:T1236M	T	+	2	0	0	EIF2AK4	38090787	38090787	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.554000	0.73923	2.835000	0.97688	0.650000	0.86243	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-19.998740	1	0.170000				31	31		99	98	1		1	1		0	0	28	0		1	1	0	26	0	128	0	31	99
BUB1B	701	broad.mit.edu	37	15	40494850	40494850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	563					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)			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)		TTCTCAAAACCTCAGAAAGCA	0.403			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Mosaic variegated aneuploidy	yes	Rec		Mosaic variegated aneuploidy	15	15q15	15q15	701	Mis, N, F, S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)				M	M		rhabdomyosarcoma			0				36						c.(1687-1689)acC>acA		BUB1 mitotic checkpoint serine/threonine kinase B							137.0	136.0	136.0					15																	40494850		2203	4300	6503	SO:0001819	synonymous_variant	701	0	0		Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	g.chr15:40494850C>A	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.1689C>A	chr15.hg19:g.40494850C>A		0					BUB1B_ENST00000412359.3_Silent_p.T577T	p.T563T	NM_001211.5	NP_001202	0	1	1	1.989262	O60566	BUB1B_HUMAN		14	1884	+		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)	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	1	1	hg19	c.1689C>A	CCDS10053.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-3.339177	1	0.170000				111	108		530	514	1		1	1		0	0	140	0		1	9.648591e-01	0	8	0	20	0	111	530
PAK6	56924	broad.mit.edu	37	15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000542403.2	+	4	1112	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000455577.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	334	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692																																						ENST00000542403.2	0.840000	0.430000	7.300000e-01	5.200000e-01	0.620000	0.632596	0.620000	0.620000																										0				24						c.(1000-1002)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							46.0	53.0	51.0					15																	40564567		2203	4300	6503	SO:0001583	missense	56924	3	121400	40				g.chr15:40564567G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1001G>A	chr15.hg19:g.40564567G>A	ENSP00000439597:p.Arg334His	0					PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000455577.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H	p.R334H	NM_001276717.1	NP_001263646.1	0	1	1	1.989262	Q9NQU5	PAK6_HUMAN		4	1112	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	1	1	hg19	c.1001G>A	CCDS10054.1	0	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291122	0.23564	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.78;-0.78;-0.83;-0.78;-0.78	3.97	3.97	0.46021	3.97	3.97	0.46021	.	0.744197	0.12876	N	0.431845	T	0.58977	0.2160	L	0.29908	0.895	0.34774	D	0.734001	B;B	0.30914	0.199;0.3	B;B	0.25759	0.029;0.063	T	0.66228	-0.5976	10	0.49607	T	0.09	.	6.6628	0.23024	0.0918:0.0:0.7297:0.1785	.	334;334	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	334	ENSP00000406873:R334H;ENSP00000401153:R334H;ENSP00000409465:R334H;ENSP00000260404:R334H;ENSP00000439597:R334H	ENSP00000260404:R334H	R	+	2	0	0	PAK6	38351859	38351859	0.991000	0.36638	0.966000	0.40874	0.324000	0.28378	0.784000	0.26816	2.210000	0.71456	0.555000	0.69702	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1	1	0	1		21	2	2	0		0	1	93		93	91	1	2.060000	-20.000000	1	0.170000				32	31		572	564	0		1	1	0	0	0	93	0		9.482856e-01	3.760570e-01	0	3	0	21	1	32	572
PLCB2	5330	broad.mit.edu	37	15	40583386	40583386	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731																																						ENST00000260402.3	1.000000	0.710000	1	9.900000e-01	0.990000	0.978150	0.990000	1.000000																										0				39						c.e27-2		phospholipase C, beta 2							5.0	7.0	6.0					15																	40583386		1769	3833	5602	SO:0001630	splice_region_variant	5330	0	0					g.chr15:40583386T>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2871-2A>G	chr15.hg19:g.40583386T>C		0					PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site		NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	0	1	1	1.989262	Q00722	PLCB2_HUMAN		27	3120	-		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)	A8K6J2|B9EGH5	Splice_Site	SNP	ENST00000260402.3	0	1	hg19		CCDS42020.1	1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626412	0.46840	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.34	4.34	0.51931	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2433	0.54555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PLCB2	38370678	38370678	0.997000	0.39634	0.180000	0.23079	0.091000	0.18340	1.835000	0.39181	1.788000	0.52465	0.459000	0.35465	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-18.868630	1	0.170000		Intron		8	8		53	51	0		1	0		0	0	9	0		9.896903e-01	0	0	0	0	1	0	8	53
PLCB2	5330	broad.mit.edu	37	15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	830					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542																																						ENST00000260402.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2488-2490)tCt>tAt		phospholipase C, beta 2							94.0	100.0	98.0					15																	40584302		2067	4214	6281	SO:0001583	missense	5330	0	0					g.chr15:40584302G>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2489C>A	chr15.hg19:g.40584302G>T	ENSP00000260402:p.Ser830Tyr	0					PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	0	1	1	1.989262	Q00722	PLCB2_HUMAN		23	2738	-		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)	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	1	1	hg19	c.2489C>A	CCDS42020.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161357	0.57368	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.23950	1.91;1.88	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.370926	0.28784	N	0.014151	T	0.41858	0.1177	L	0.52011	1.625	0.80722	D	1	P;D;P	0.63880	0.911;0.993;0.62	B;P;B	0.62649	0.424;0.905;0.396	T	0.22312	-1.0220	10	0.72032	D	0.01	.	13.5805	0.61901	0.0782:0.0:0.9218:0.0	.	830;826;830	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Y	830	ENSP00000260402:S830Y;ENSP00000411991:S830Y	ENSP00000260402:S830Y	S	-	2	0	0	PLCB2	38371594	38371594	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	4.878000	0.63093	2.605000	0.88082	0.491000	0.48974	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000				76	74		322	318	1		1	0		0	0	120	0		1	9.992720e-01	0	0	0	48	0	76	322
PLCB2	5330	broad.mit.edu	37	15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000260402.3	-	3	476	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	76					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P76L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597																																						ENST00000260402.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P76L(1)	upper_aerodigestive_tract(1)	39						c.(226-228)cCc>cTc		phospholipase C, beta 2							93.0	92.0	92.0					15																	40595493		1986	4167	6153	SO:0001583	missense	5330	0	0					g.chr15:40595493G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.227C>T	chr15.hg19:g.40595493G>A	ENSP00000260402:p.Pro76Leu	0					PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	0	1	1	1.989262	Q00722	PLCB2_HUMAN		3	476	-		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)	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	1	1	hg19	c.227C>T	CCDS42020.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403713	0.83230	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.42513	0.97;0.97;0.97	4.53	3.61	0.41365	4.53	3.61	0.41365	.	0.186336	0.47852	N	0.000216	T	0.62913	0.2467	M	0.75615	2.305	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;1.0;0.998	D;P;D;D	0.97110	0.999;0.885;1.0;0.967	T	0.67995	-0.5526	10	0.87932	D	0	.	13.0206	0.58784	0.0788:0.0:0.9212:0.0	.	76;76;76;76	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	L	76	ENSP00000260402:P76L;ENSP00000411991:P76L;ENSP00000444652:P76L	ENSP00000260402:P76L	P	-	2	0	0	PLCB2	38382785	38382785	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.386000	0.90166	1.253000	0.44018	0.655000	0.94253	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	1		19	2	2	0		0	1	57		57	57	1	2.060000	-3.032746	1	0.170000				55	56		288	280	1		1	0		0	0	57	0		9.999972e-01	9.329611e-01	0	0	0	26	0	55	288
DISP2	85455	broad.mit.edu	37	15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	536	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				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)		GTGGCCTTCCGCATGGCCTAC	0.617																																						ENST00000267889.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1606-1608)cGc>cAc		dispatched homolog 2 (Drosophila)							87.0	76.0	80.0					15																	40659920		2203	4300	6503	SO:0001583	missense	85455	1	121412	29				g.chr15:40659920G>A	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.1607G>A	chr15.hg19:g.40659920G>A	ENSP00000267889:p.Arg536His	0					RP11-64K12.4_ENST00000558421.1_RNA	p.R536H	NM_033510.1	NP_277045.1	0	1	1	1.989262	A7MBM2	DISP2_HUMAN		8	1694	+		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)	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	1	1	hg19	c.1607G>A	CCDS10056.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158351	0.38119	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.105275	0.64402	D	0.000007	D	0.93032	0.7782	L	0.45137	1.4	0.47905	D	0.999545	P	0.46656	0.882	B	0.39503	0.301	D	0.92354	0.5892	10	0.34782	T	0.22	-28.3214	19.5634	0.95382	0.0:0.0:1.0:0.0	.	536	A7MBM2	DISP2_HUMAN	H	536	ENSP00000267889:R536H	ENSP00000267889:R536H	R	+	2	0	0	DISP2	38447212	38447212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.979000	0.56888	2.625000	0.88918	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.229404	1	0.170000	NM_033510			60	55		275	273	1		1	1	1	0	0	57	950		1	6.145838e-01	1	4	192	7	788	60	275
DISP2	85455	broad.mit.edu	37	15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1243					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				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)		GCTGGCCCCAGCCCCAAAACC	0.682																																						ENST00000267889.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(3727-3729)aGc>aAc		dispatched homolog 2 (Drosophila)							15.0	17.0	16.0					15																	40662041		2201	4291	6492	SO:0001583	missense	85455	0	0					g.chr15:40662041G>A	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.3728G>A	chr15.hg19:g.40662041G>A	ENSP00000267889:p.Ser1243Asn	0					RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	p.S1243N	NM_033510.1	NP_277045.1	0	1	1	1.989262	A7MBM2	DISP2_HUMAN		8	3815	+		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)	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	1	1	hg19	c.3728G>A	CCDS10056.1	1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818993	0.16607	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.3	1.31	0.21738	5.3	1.31	0.21738	.	0.708449	0.15445	N	0.261977	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40664	-0.9551	10	0.19590	T	0.45	-9.9672	6.7334	0.23395	0.2686:0.2421:0.4894:0.0	.	1243	A7MBM2	DISP2_HUMAN	N	1243	ENSP00000267889:S1243N	ENSP00000267889:S1243N	S	+	2	0	0	DISP2	38449333	38449333	0.996000	0.38824	0.972000	0.41901	0.937000	0.57800	1.217000	0.32455	0.439000	0.26476	0.561000	0.74099	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_033510			36	35		158	154	1		1	1	1	0	0	42	453		1	6.366171e-01	1	3	91	8	401	36	158
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A	rs373140549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000416165.1	+	2	529	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662																																						ENST00000416165.1	1.000000	0.830000	1	9.700000e-01	0.990000	0.985059	0.990000	1.000000																										0				28						c.(457-459)cGc>cAc		bromo adjacent homology domain containing 1		G	HIS/ARG	0,4378		0,0,2189	24.0	31.0	29.0		458	4.4	1.0	15		29	1,8559		0,1,4279	no	missense	BAHD1	NM_014952.3	29	0,1,6468	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	153/781	40751121	1,12937	2189	4280	6469	SO:0001583	missense	22893	6	121240	39				g.chr15:40751121G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.458G>A	chr15.hg19:g.40751121G>A	ENSP00000396976:p.Arg153His	0					BAHD1_ENST00000561234.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	p.R153H	NM_014952.3	NP_055767.3	0	1	1	1.989262	Q8TBE0	BAHD1_HUMAN		2	529	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	1	1	hg19	c.458G>A	CCDS10058.1	1	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291807	0.10567	0.0	1.17E-4	ENSG00000140320	ENST00000416165	T	0.18174	2.23	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	P;P;P	0.52577	0.954;0.923;0.954	P;B;P	0.45449	0.481;0.288;0.481	T	0.16158	-1.0412	10	0.36615	T	0.2	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	153	ENSP00000396976:R153H	ENSP00000396976:R153H	R	+	2	0	0	BAHD1	38538413	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	1	0	1		2	2	2	0		0	0	53		53	35	1	2.060000	-3.075755	1	0.170000	NM_014952			41	35		379	327	1		1	1		0	0	53	0		1	9.931665e-01	0	9	0	64	0	41	379
BAHD1	22893	broad.mit.edu	37	15	40751773	40751773	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000416165.1	+	2	1181	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000561234.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	370					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632																																						ENST00000416165.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1108-1110)ggG>ggT		bromo adjacent homology domain containing 1							81.0	75.0	77.0					15																	40751773		2203	4300	6503	SO:0001819	synonymous_variant	22893	0	0					g.chr15:40751773G>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1110G>T	chr15.hg19:g.40751773G>T		0					BAHD1_ENST00000561234.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	p.G370G	NM_014952.3	NP_055767.3	0	1	1	1.989262	Q8TBE0	BAHD1_HUMAN		2	1181	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	1	1	hg19	c.1110G>T	CCDS10058.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	1	0	1		2	2	2	0		0	0	95		95	89	1	2.060000	-20.000000	1	0.170000	NM_014952			98	96		411	404	1		1	1		0	0	95	0		1	9.997034e-01	0	12	0	40	0	98	411
BAHD1	22893	broad.mit.edu	37	15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000416165.1	+	3	1831	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R586H|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	587	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647																																						ENST00000416165.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1759-1761)cGc>cAc		bromo adjacent homology domain containing 1							75.0	86.0	82.0					15																	40754438		2154	4204	6358	SO:0001583	missense	22893	1	120974	34				g.chr15:40754438G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1760G>A	chr15.hg19:g.40754438G>A	ENSP00000396976:p.Arg587His	0					BAHD1_ENST00000561234.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H|RP11-64K12.8_ENST00000559730.1_RNA	p.R587H	NM_014952.3	NP_055767.3	0	1	1	1.989262	Q8TBE0	BAHD1_HUMAN		3	1831	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	1	1	hg19	c.1760G>A	CCDS10058.1	1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.235644	0.58886	.	.	ENSG00000140320	ENST00000416165	T	0.18016	2.24	5.74	3.82	0.43975	5.74	3.82	0.43975	.	0.250811	0.38436	N	0.001682	T	0.15912	0.0383	N	0.08118	0	0.24179	N	0.995593	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.58660	0.843;0.7;0.843	T	0.04481	-1.0948	10	0.52906	T	0.07	-13.8077	9.1975	0.37237	0.0:0.3781:0.5076:0.1143	.	587;587;586	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	587	ENSP00000396976:R587H	ENSP00000396976:R587H	R	+	2	0	0	BAHD1	38541730	38541730	0.995000	0.38212	1.000000	0.80357	0.559000	0.35586	3.604000	0.54081	1.460000	0.47911	-0.196000	0.12772	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	0	0	1		24	2	2	1		1	1	140		140	134	1	2.060000	-20.000000	1	0.170000	NM_014952			180	177		821	809	1		1	1		1	0	140	0		1	9.661642e-01	0	7	0	20	0	180	821
CHST14	113189	broad.mit.edu	37	15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	258					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597																																						ENST00000306243.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(772-774)gTc>gCc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							108.0	117.0	114.0					15																	40764185		2203	4300	6503	SO:0001583	missense	113189	0	0					g.chr15:40764185T>C	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.773T>C	chr15.hg19:g.40764185T>C	ENSP00000307297:p.Val258Ala	0					CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	p.V258A	NM_130468.3	NP_569735.1	0	1	1	1.989262	Q8NCH0	CHSTE_HUMAN		1	1026	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	1	1	hg19	c.773T>C	CCDS10059.1	1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759780	0.69763	.	.	ENSG00000169105	ENST00000306243	T	0.75821	-0.97	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.70228	0.3200	M	0.67625	2.065	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.70967	-0.4728	10	0.40728	T	0.16	-34.1455	8.9559	0.35818	0.0:0.0869:0.0:0.9131	.	258	Q8NCH0	CHSTE_HUMAN	A	258	ENSP00000307297:V258A	ENSP00000307297:V258A	V	+	2	0	0	CHST14	38551477	38551477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.135000	0.71696	2.109000	0.64355	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	1	0	1		2	2	2	0		0	0	196		196	192	1	2.060000	-20.000000	1	0.170000	NM_130468			197	196		784	774	1		1	1		0	0	196	0		1	1	0	34	0	163	0	197	784
RPUSD2	27079	broad.mit.edu	37	15	40863937	40863937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000315616.7	+	2	779	c.741C>T	c.(739-741)ggC>ggT	p.G247G	RPUSD2_ENST00000559271.1_Silent_p.G186G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	247					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ACCCCTGTGGCCGCTTCCGAC	0.562																																						ENST00000315616.7	0.550000	0.230000	4.700000e-01	3.000000e-01	0.370000	0.389221	0.370000	0.370000																										0				11						c.(739-741)ggC>ggT		RNA pseudouridylate synthase domain containing 2							200.0	143.0	163.0					15																	40863937		2203	4300	6503	SO:0001819	synonymous_variant	27079	0	0					g.chr15:40863937C>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.741C>T	chr15.hg19:g.40863937C>T		0					RPUSD2_ENST00000559271.1_Silent_p.G186G	p.G247G	NM_152260.1	NP_689473.1	0	1	1	1.989262	Q8IZ73	RUSD2_HUMAN		2	779	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	ENST00000315616.7	1	1	hg19	c.741C>T	CCDS10061.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	0	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-2.755509	1	0.170000	NM_152260			20	19		605	582	0		1	1		0	0	151	0		9.999929e-01	7.829757e-01	0	6	0	83	0	20	605
CASC5	57082	broad.mit.edu	37	15	40920867	40920867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40920867C>T	ENST00000346991.5	+	13	6042	c.5652C>T	c.(5650-5652)agC>agT	p.S1884S	CASC5_ENST00000399668.2_Silent_p.S1858S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1884	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)				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)		GTGAAGAGAGCTTGAGGGAGG	0.313																																						ENST00000346991.5	0.490000	0.140000	3.900000e-01	2.100000e-01	0.290000	0.308221	0.290000	0.290000																										0				57						c.(5650-5652)agC>agT		cancer susceptibility candidate 5							122.0	105.0	110.0					15																	40920867		1803	4073	5876	SO:0001819	synonymous_variant	57082	1	120778	32				g.chr15:40920867C>T	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.5652C>T	chr15.hg19:g.40920867C>T		0					CASC5_ENST00000399668.2_Silent_p.S1858S	p.S1884S			0	1	1	1.989262	Q8NG31	CASC5_HUMAN		13	6042	+		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)	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	0	1	hg19	c.5652C>T	CCDS42023.1	0	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020658	0.19433	.	.	ENSG00000137812	ENST00000532406	.	.	.	5.75	1.64	0.23874	5.75	1.64	0.23874	.	.	.	.	.	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48811	-0.9002	4	.	.	.	.	8.9461	0.35760	0.0:0.5138:0.0:0.4862	.	.	.	.	V	65	.	.	A	+	2	0	0	CASC5	38708159	38708159	0.961000	0.32948	0.995000	0.50966	0.980000	0.70556	-0.104000	0.10923	0.051000	0.15978	-0.268000	0.10319	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-9.443834	1	0.170000	NM_144508			10	10		401	396	0		1	1		0	0	80	0		9.967669e-01	2.942083e-02	0	2	0	8	0	10	401
CASC5	57082	broad.mit.edu	37	15	40949277	40949277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	ENST00000346991.5	+	24	6990	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2200	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)				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)		tagttcataagcttattttcc	0.368																																						ENST00000346991.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998374	0.990000	1.000000																										0				57						c.(6598-6600)aaG>aaT		cancer susceptibility candidate 5							31.0	29.0	29.0					15																	40949277		1819	4087	5906	SO:0001583	missense	57082	0	0					g.chr15:40949277G>T	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.6600G>T	chr15.hg19:g.40949277G>T	ENSP00000335463:p.Lys2200Asn	0					CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N	p.K2200N			0	1	1	1.989262	Q8NG31	CASC5_HUMAN		24	6990	+		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)	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	0	1	hg19	c.6600G>T	CCDS42023.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655224	0.67472	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06068	3.35;3.35	5.73	0.0106	0.14083	5.73	0.0106	0.14083	.	0.476666	0.18695	U	0.133755	T	0.04318	0.0119	L	0.34521	1.04	0.28308	N	0.922827	B;B	0.14438	0.01;0.01	B;B	0.16722	0.016;0.016	T	0.42498	-0.9448	10	0.16896	T	0.51	.	6.8251	0.23878	0.327:0.1318:0.5412:0.0	.	2174;2200	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	N	2200;2174	ENSP00000335463:K2200N;ENSP00000382576:K2174N	ENSP00000335463:K2200N	K	+	3	2	2	CASC5	38736569	38736569	0.994000	0.37717	0.999000	0.59377	0.973000	0.67179	-0.017000	0.12590	0.089000	0.17243	-0.150000	0.13652	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_144508			16	16		89	88	0		1	1		0	0	20	0		9.999543e-01	5.315108e-01	0	5	0	6	0	16	89
GCHFR	2644	broad.mit.edu	37	15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000260447.4	+	3	316	c.155C>A	c.(154-156)cCt>cAt	p.P52H	GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|DNAJC17_ENST00000558727.1_5'Flank	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	52					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592																																						ENST00000260447.4	1.000000	0.760000	1	8.700000e-01	0.990000	0.952304	0.990000	1.000000																										0				6						c.(154-156)cCt>cAt		GTP cyclohydrolase I feedback regulator							110.0	102.0	105.0					15																	41059447		2203	4300	6503	SO:0001583	missense	2644	0	0					g.chr15:41059447C>A	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.155C>A	chr15.hg19:g.41059447C>A	ENSP00000260447:p.Pro52His	0					GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|GCHFR_ENST00000558670.1_3'UTR|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H|DNAJC17_ENST00000558727.1_5'Flank	p.P52H	NM_005258.2	NP_005249.1	0	1	1	1.989262	P30047	GFRP_HUMAN		3	316	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	1	1	hg19	c.155C>A	CCDS10064.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.129110	0.94473	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.045192	0.85682	D	0.000000	D	0.82467	0.5043	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.947	D	0.83786	0.0228	8	0.87932	D	0	-6.9784	19.6421	0.95762	0.0:1.0:0.0:0.0	.	41;52	B7ZLM8;P30047	.;GFRP_HUMAN	H	52	.	ENSP00000260447:P52H	P	+	2	0	0	GCHFR	38846739	38846739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-3.075755	1	0.170000	NM_005258			57	55		612	602	0		1	1		0	0	147	0		1	1	0	35	0	260	0	57	612
RHOV	171177	broad.mit.edu	37	15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4	1.000000	0.960000	1	9.900000e-01	0.990000	0.997584	0.990000	1.000000																										0				2						c.(700-702)Tgc>Ggc		ras homolog family member V							66.0	72.0	70.0					15																	41165267		2203	4300	6503	SO:0001583	missense	171177	0	0					g.chr15:41165267A>C	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.700T>G	chr15.hg19:g.41165267A>C	ENSP00000220507:p.Cys234Gly	0					AC025166.1_ENST00000582049.1_RNA	p.C234G	NM_133639.3	NP_598378.3	0	1	1	1.989262				3	849	-		all_cancers(109;1.42e-13)|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)		Missense_Mutation	SNP	ENST00000220507.4	1	1	hg19	c.700T>G	CCDS10068.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092332	0.76756	.	.	ENSG00000104140	ENST00000220507	T	0.72942	-0.7	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85743	0.1338	10	0.72032	D	0.01	.	15.3612	0.74475	1.0:0.0:0.0:0.0	.	234	Q96L33	RHOV_HUMAN	G	234	ENSP00000220507:C234G	ENSP00000220507:C234G	C	-	1	0	0	RHOV	38952559	38952559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.869000	0.92326	2.037000	0.60232	0.254000	0.18369	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				52	51		430	423	1		1	1		0	0	81	0		1	5.657111e-01	0	2	0	15	0	52	430
VPS18	57617	broad.mit.edu	37	15	41192523	41192523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41192523C>A	ENST00000220509.5	+	4	1846	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	503					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGAGCCGGCTTGGGGCTCT	0.607																																						ENST00000220509.5	0.550000	0.280000	4.800000e-01	3.400000e-01	0.400000	0.415822	0.400000	0.410000																										0				28						c.(1507-1509)Ctt>Att		vacuolar protein sorting 18 homolog (S. cerevisiae)							77.0	86.0	83.0					15																	41192523		2203	4300	6503	SO:0001583	missense	57617	0	0					g.chr15:41192523C>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1507C>A	chr15.hg19:g.41192523C>A	ENSP00000220509:p.Leu503Ile	0					VPS18_ENST00000558474.1_Intron	p.L503I	NM_020857.2	NP_065908.1	0	1	1	1.989262	Q9P253	VPS18_HUMAN		4	1846	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	1	1	hg19	c.1507C>A	CCDS10069.1	0	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925968	0.73327	.	.	ENSG00000104142	ENST00000220509	T	0.22539	1.95	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.45470	1.425	0.80722	D	1	P	0.40515	0.719	B	0.37091	0.241	T	0.02781	-1.1111	10	0.19590	T	0.45	-24.7712	19.3228	0.94248	0.0:1.0:0.0:0.0	.	503	Q9P253	VPS18_HUMAN	I	503	ENSP00000220509:L503I	ENSP00000220509:L503I	L	+	1	0	0	VPS18	38979815	38979815	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.048000	0.71046	2.633000	0.89246	0.561000	0.74099	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	0	0	1		2	2	2	0		0	0	186		186	183	1	2.060000	-3.579353	1	0.170000				34	34		945	931	0		1	1		0	0	186	0		1	7.877468e-01	0	3	0	80	0	34	945
VPS18	57617	broad.mit.edu	37	15	41194882	41194882	+	Silent	SNP	G	G	A	rs202073150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41194882G>A	ENST00000220509.5	+	5	2604	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	755					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCAAGAAGCTGTGGCTGAAGA	0.582																																						ENST00000220509.5	1.000000	0.410000	9.400000e-01	5.500000e-01	0.730000	0.742450	0.730000	1.000000																										0				28						c.(2263-2265)ctG>ctA		vacuolar protein sorting 18 homolog (S. cerevisiae)							150.0	127.0	135.0					15																	41194882		2203	4300	6503	SO:0001819	synonymous_variant	57617	0	0					g.chr15:41194882G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2265G>A	chr15.hg19:g.41194882G>A		0					VPS18_ENST00000558474.1_3'UTR	p.L755L	NM_020857.2	NP_065908.1	0	1	1	1.989262	Q9P253	VPS18_HUMAN		5	2604	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	1	1	hg19	c.2265G>A	CCDS10069.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-16.528420	1	0.170000				13	13		197	192	0		1	1		0	0	50	0		9.995126e-01	9.849025e-01	0	8	0	100	0	13	197
INO80	54617	broad.mit.edu	37	15	41275118	41275118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.A1465A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	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)			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						CTGCAGCCCCGGCTTTGGCTC	0.617																																						ENST00000361937.3	1.000000	0.650000	1	7.600000e-01	0.880000	0.882305	0.880000	1.000000																										0				49						c.(4393-4395)gcC>gcT		INO80 complex subunit							45.0	51.0	49.0					15																	41275118		2202	4294	6496	SO:0001819	synonymous_variant	54617	1	121402	30				g.chr15:41275118G>A	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.4395C>T	chr15.hg19:g.41275118G>A		0					INO80_ENST00000401393.3_Silent_p.A1465A|INO80_ENST00000561244.1_5'Flank	p.A1465A			0	1	1	1.989262	Q9ULG1	INO80_HUMAN		35	4819	-			A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	1	1	hg19	c.4395C>T	CCDS10071.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	1	0	1		2	2	2	0		0	0	94		94	88	1	2.060000	-2.578431	1	0.170000	NM_017553			44	43		535	528	1		1	1		0	0	94	0		1	9.442279e-01	0	8	0	52	0	44	535
INO80	54617	broad.mit.edu	37	15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	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)			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						TTGGCTGCCAGACTCCCTCCT	0.507																																						ENST00000361937.3	0.820000	0.320000	6.900000e-01	4.200000e-01	0.540000	0.562273	0.540000	0.530000																										0				49						c.(3130-3132)Ctg>Atg		INO80 complex subunit							94.0	85.0	88.0					15																	41313242		2203	4300	6503	SO:0001583	missense	54617	0	0					g.chr15:41313242G>T	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.3130C>A	chr15.hg19:g.41313242G>T	ENSP00000355205:p.Leu1044Met	0					RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.L1044M	p.L1044M			0	1	1	1.989262	Q9ULG1	INO80_HUMAN		26	3554	-			A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	1	1	hg19	c.3130C>A	CCDS10071.1	0	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744557	0.49151	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	4.23	0.50019	5.14	4.23	0.50019	.	0.427308	0.24260	N	0.040091	D	0.83811	0.5335	N	0.24115	0.695	0.35107	D	0.765768	P	0.46277	0.875	B	0.41571	0.36	D	0.85873	0.1417	10	0.28530	T	0.3	.	13.7206	0.62725	0.074:0.0:0.926:0.0	.	1044	Q9ULG1	INO80_HUMAN	M	1044	ENSP00000355205:L1044M;ENSP00000384686:L1044M	ENSP00000355205:L1044M	L	-	1	2	2	INO80	39100534	39100534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.784000	0.38674	1.397000	0.46682	-0.136000	0.14681	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.237618	1	0.170000	NM_017553			16	14		331	324	0		1	1		0	0	78	0		9.999232e-01	8.186173e-01	0	3	0	64	0	16	331
INO80	54617	broad.mit.edu	37	15	41372020	41372020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41372020C>T	ENST00000361937.3	-	9	1434	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	INO80_ENST00000401393.3_Missense_Mutation_p.R337H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	337	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				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)			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						GGTGAGGCGGCGGGCACGAGG	0.532																																						ENST00000361937.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1009-1011)cGc>cAc		INO80 complex subunit							153.0	160.0	158.0					15																	41372020		2203	4300	6503	SO:0001583	missense	54617	0	0					g.chr15:41372020C>T	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.1010G>A	chr15.hg19:g.41372020C>T	ENSP00000355205:p.Arg337His	0					INO80_ENST00000401393.3_Missense_Mutation_p.R337H	p.R337H			0	1	1	1.989262	Q9ULG1	INO80_HUMAN		9	1434	-			A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	1	0	hg19	c.1010G>A	CCDS10071.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358374	0.41801	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92647	-3.08;-3.08	4.91	4.91	0.64330	4.91	4.91	0.64330	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96014	0.9004	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	337	Q9ULG1	INO80_HUMAN	H	337	ENSP00000355205:R337H;ENSP00000384686:R337H	ENSP00000355205:R337H	R	-	2	0	0	INO80	39159312	39159312	1.000000	0.71417	0.984000	0.44739	0.056000	0.15407	7.430000	0.80321	2.566000	0.86566	0.467000	0.42956	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	0	0	0		25	3	2	3		3	2	215		215	210	1	2.060000	-20.000000	1	0.170000	NM_017553			206	205		924	905	1		1	1		3	0	215	0		1	8.913346e-01	0	7	0	20	0	206	924
NUSAP1	51203	broad.mit.edu	37	15	41657701	41657701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000559596.1	+	7	849	c.762G>A	c.(760-762)cgG>cgA	p.R254R	NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Silent_p.R253R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000260359.6_Silent_p.R239R			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	254	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		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;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547																																						ENST00000559596.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				13						c.(760-762)cgG>cgA		nucleolar and spindle associated protein 1							35.0	35.0	35.0					15																	41657701		1897	4138	6035	SO:0001819	synonymous_variant	51203	0	0					g.chr15:41657701G>A	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.762G>A	chr15.hg19:g.41657701G>A		0					NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000260359.6_Silent_p.R239R|NUSAP1_ENST00000414849.2_Silent_p.R253R	p.R254R			0	1	1	1.989262	Q9BXS6	NUSAP_HUMAN		7	849	+		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)	B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	ENST00000559596.1	1	1	hg19	c.762G>A	CCDS45234.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_016359			24	23		97	97	1		1	1		0	0	14	0		9.999999e-01	9.999501e-01	0	27	0	42	0	24	97
RTF1	23168	broad.mit.edu	37	15	41745191	41745191	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	134					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)			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)		ACAAAACTGCCTCCTCAGGCA	0.463																																						ENST00000389629.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(400-402)gcC>gcA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							79.0	74.0	76.0					15																	41745191		2203	4300	6503	SO:0001819	synonymous_variant	23168	0	0					g.chr15:41745191C>A	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.402C>A	chr15.hg19:g.41745191C>A		0					RTF1_ENST00000462276.1_3'UTR	p.A134A	NM_015138.4	NP_055953.3	0	1	1	1.989262	Q92541	RTF1_HUMAN		3	414	+		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)	Q96BX6	Silent	SNP	ENST00000389629.4	1	1	hg19	c.402C>A	CCDS32200.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.492121	1	0.170000	NM_015138			44	44		158	156	1		1	1		0	0	70	0		1	1	0	52	0	99	0	44	158
RTF1	23168	broad.mit.edu	37	15	41758365	41758365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41758365T>C	ENST00000389629.4	+	6	816	c.804T>C	c.(802-804)cgT>cgC	p.R268R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	268	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)			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)		AGGAACGGCGTTCCAAGCGGG	0.433																																						ENST00000389629.4	1.000000	0.240000	1	4.600000e-01	0.780000	0.752485	0.780000	1.000000																										0				18						c.(802-804)cgT>cgC		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							93.0	85.0	88.0					15																	41758365		2203	4299	6502	SO:0001819	synonymous_variant	23168	0	0					g.chr15:41758365T>C	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.804T>C	chr15.hg19:g.41758365T>C		0						p.R268R	NM_015138.4	NP_055953.3	0	1	1	1.989262	Q92541	RTF1_HUMAN		6	816	+		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)	Q96BX6	Silent	SNP	ENST00000389629.4	0	1	hg19	c.804T>C	CCDS32200.2	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-4.573919	1	0.170000	NM_015138			3	3		44	44	0		1	1		0	0	11	0		8.126084e-01	9.840721e-01	0	22	0	117	0	3	44
LTK	4058	broad.mit.edu	37	15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000263800.6	-	2	172	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	26					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617										TSP Lung(18;0.14)																												ENST00000263800.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999838	0.990000	1.000000																										0				26						c.(76-78)Gag>Tag		leukocyte receptor tyrosine kinase							16.0	21.0	19.0					15																	41805286		2185	4286	6471	SO:0001587	stop_gained	4058	0	0					g.chr15:41805286C>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.76G>T	chr15.hg19:g.41805286C>A	ENSP00000263800:p.Glu26*	0	TSP Lung(18;0.14)				LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*	p.E26*	NM_002344.5	NP_002335.2	0	1	1	1.989262	P29376	LTK_HUMAN		2	172	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	A6NNJ8|B4DL89|E9PFX4	Nonsense_Mutation	SNP	ENST00000263800.6	0	1	hg19	c.76G>T	CCDS10077.1	1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818287	0.71028	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	.	.	.	4.15	-1.42	0.08913	4.15	-1.42	0.08913	.	1.747210	0.04129	U	0.317719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9101	0.29785	0.0:0.5192:0.0:0.4808	.	.	.	.	X	26	.	ENSP00000263800:E26X	E	-	1	0	0	LTK	39592578	39592578	0.011000	0.17503	0.001000	0.08648	0.225000	0.24961	0.468000	0.22051	-0.355000	0.08199	-0.258000	0.10820	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2	1	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-20.000000	1	0.170000				20	20		93	91	1		1			0	0	25	0		9.999971e-01	0	0	0	0	0	0	20	93
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000304330.4	-	21	3016	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A967V(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)		TGGCTGCAGCGCTGCCTGCAG	0.587																																						ENST00000304330.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A967V(1)	NS(1)	45						c.(2899-2901)gCg>gTg		RNA polymerase II associated protein 1							32.0	31.0	31.0					15																	41814074		2203	4300	6503	SO:0001583	missense	26015	4	121410	35				g.chr15:41814074G>A	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.2900C>T	chr15.hg19:g.41814074G>A	ENSP00000306123:p.Ala967Val	0					RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	p.A967V	NM_015540.2	NP_056355.2	0	1	1	1.989262	Q9BWH6	RPAP1_HUMAN		21	3016	-		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)	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	1	1	hg19	c.2900C>T	CCDS10079.1	1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331785	0.24167	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.88	-0.796	0.10912	4.88	-0.796	0.10912	.	1.434620	0.04140	N	0.319392	T	0.56529	0.1991	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.42582	-0.9443	10	0.36615	T	0.2	-15.5212	6.4346	0.21817	0.5094:0.1402:0.3504:0.0	.	967	Q9BWH6	RPAP1_HUMAN	V	967	ENSP00000306123:A967V	ENSP00000306123:A967V	A	-	2	0	0	RPAP1	39601366	39601366	0.354000	0.24912	0.000000	0.03702	0.002000	0.02628	2.133000	0.42093	-0.015000	0.14150	-0.259000	0.10710	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015540			48	46		145	142	1		1	1		0	0	40	0		1	9.999371e-01	0	9	0	39	0	48	145
RPAP1	26015	broad.mit.edu	37	15	41814317	41814317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000304330.4	-	20	2990	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000561603.1_Silent_p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	958	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			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)		CCAGAGCGAGTGCCAGGTACT	0.582																																						ENST00000304330.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2872-2874)gcA>gcG		RNA polymerase II associated protein 1							81.0	82.0	82.0					15																	41814317		2203	4300	6503	SO:0001819	synonymous_variant	26015	0	0					g.chr15:41814317T>C	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.2874A>G	chr15.hg19:g.41814317T>C		0					RPAP1_ENST00000561603.1_Silent_p.A958A	p.A958A	NM_015540.2	NP_056355.2	0	1	1	1.989262	Q9BWH6	RPAP1_HUMAN		20	2990	-		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)	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	1	1	hg19	c.2874A>G	CCDS10079.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	0	0	1		2	2	2	0		0	0	112		112	108	1	2.060000	-20.000000	1	0.170000	NM_015540			99	97		455	447	1		1	1		0	0	112	0		1	9.901281e-01	0	5	0	30	0	99	455
MGA	23269	broad.mit.edu	37	15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000570161.1	+	1	983	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T			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)			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)	TCCCTTAATATAAAACGAGAC	0.408																																						ENST00000570161.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				95						c.(982-984)aTa>aCa		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						52.0	51.0	52.0					15																	41962075		1863	4091	5954	SO:0001583	missense	23269	0	0					g.chr15:41962075T>C	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.983T>C	chr15.hg19:g.41962075T>C	ENSP00000457035:p.Ile328Thr	0					MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000219905.7_Missense_Mutation_p.I328T	p.I328T			0	1	1	1.989262	O43451	MGA_HUMAN		1	983	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	1	1	hg19	c.983T>C	CCDS55959.1	1	.	.	.	.	.	.	.	.	.	.	T	7.224	0.597876	0.13939	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83506	-1.73;-1.73;-1.73	5.62	2.93	0.34026	5.62	2.93	0.34026	.	1.281880	0.04560	N	0.391515	T	0.71117	0.3302	N	0.22421	0.69	0.22240	N	0.999264	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.56565	-0.7958	10	0.33141	T	0.24	.	2.3255	0.04222	0.0:0.2529:0.2946:0.4525	.	328;328	F5H7K2;E7ENI0	.;.	T	328	ENSP00000219905:I328T;ENSP00000374586:I328T;ENSP00000442467:I328T	ENSP00000219905:I328T	I	+	2	0	0	MGA	39749367	39749367	1.000000	0.71417	0.944000	0.38274	0.946000	0.59487	2.270000	0.43355	1.018000	0.39521	0.383000	0.25322	ATA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_001164273.1			29	29		135	134	1		1	1		0	0	44	0		1	8.487280e-01	0	6	0	12	0	29	135
MGA	23269	broad.mit.edu	37	15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000570161.1	+	4	2177	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V			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)			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)	ATACATCCTGGTCTTCAAGAA	0.373																																						ENST00000570161.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997834	0.990000	1.000000																										0				95						c.(2176-2178)gGt>gTt		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66.0	61.0	63.0					15																	41991346		1832	4077	5909	SO:0001583	missense	23269	0	0					g.chr15:41991346G>T	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.2177G>T	chr15.hg19:g.41991346G>T	ENSP00000457035:p.Gly726Val	0					MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V	p.G726V			0	1	1	1.989262	O43451	MGA_HUMAN		4	2177	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	0	1	hg19	c.2177G>T	CCDS55959.1	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422001	0.25639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.34275	1.37;1.37;1.37	4.81	3.87	0.44632	4.81	3.87	0.44632	.	3.584270	0.00424	N	0.000070	T	0.26955	0.0660	N	0.08118	0	0.43471	D	0.995682	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.002	T	0.01810	-1.1269	10	0.32370	T	0.25	.	12.9702	0.58508	0.0:0.1692:0.8308:0.0	.	726;726	F5H7K2;E7ENI0	.;.	V	726	ENSP00000219905:G726V;ENSP00000374586:G726V;ENSP00000442467:G726V	ENSP00000219905:G726V	G	+	2	0	0	MGA	39778638	39778638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	0.967000	0.38186	0.561000	0.74099	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_001164273.1			16	16		93	91	1		1	1		0	0	16	0		9.999497e-01	7.078898e-01	0	5	0	11	0	16	93
MGA	23269	broad.mit.edu	37	15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000570161.1	+	14	5059	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron			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)			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)	TTCAACCATAACTCTTCCTGT	0.498																																						ENST00000570161.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				95						c.(5059-5061)Act>Gct		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						157.0	148.0	151.0					15																	42035217		2020	4193	6213	SO:0001583	missense	23269	0	0					g.chr15:42035217A>G	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.5059A>G	chr15.hg19:g.42035217A>G	ENSP00000457035:p.Thr1687Ala	0					MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A	p.T1687A			0	1	1	1.989262	O43451	MGA_HUMAN		14	5059	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	1	1	hg19	c.5059A>G	CCDS55959.1	1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022615	0.54683	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86769	-2.16;-2.17	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.245644	0.28284	N	0.015907	D	0.85588	0.5731	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58266	0.836;0.694	D	0.87228	0.2258	10	0.87932	D	0	.	11.381	0.49757	0.8487:0.1513:0.0:0.0	.	303;1687	B4DVS1;E7ENI0	.;.	A	1687	ENSP00000219905:T1687A;ENSP00000374586:T1687A	ENSP00000219905:T1687A	T	+	1	0	0	MGA	39822509	39822509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.056000	0.61249	0.460000	0.39030	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001164273.1			41	40		203	200	1		1	1		0	0	63	0		1	8.499034e-01	0	5	0	14	0	41	203
MGA	23269	broad.mit.edu	37	15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000570161.1	+	16	5597	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H			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)			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)	GTCATGAATCCTGTAATTCAA	0.488																																						ENST00000570161.1	0.710000	0.290000	6.000000e-01	3.800000e-01	0.480000	0.495634	0.480000	0.470000																										0				95						c.(5596-5598)cCt>cAt		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						123.0	117.0	119.0					15																	42041402		1973	4160	6133	SO:0001583	missense	23269	0	0					g.chr15:42041402C>A	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.5597C>A	chr15.hg19:g.42041402C>A	ENSP00000457035:p.Pro1866His	0					MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H	p.P1866H			0	1	1	1.989262	O43451	MGA_HUMAN		16	5597	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	1	1	hg19	c.5597C>A	CCDS55959.1	0	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344375	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22945	1.93;1.93;1.93	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.455762	0.18443	N	0.141068	T	0.38931	0.1059	N	0.19112	0.55	0.30792	N	0.740823	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;P	0.70935	0.936;0.971;0.936;0.894	T	0.36866	-0.9730	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	482;1657;1866;1827	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1866;1827;1657	ENSP00000219905:P1866H;ENSP00000374586:P1827H;ENSP00000442467:P1657H	ENSP00000219905:P1866H	P	+	2	0	0	MGA	39828694	39828694	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-2.811370	1	0.170000	NM_001164273.1			18	18		424	418	0		1	0		0	0	90	0		9.999806e-01	4.799860e-01	0	0	0	38	0	18	424
MGA	23269	broad.mit.edu	37	15	42042630	42042630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000570161.1	+	16	6825	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L			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)			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)	GTCACTTACTGCTACCTGGAG	0.438																																						ENST00000570161.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(6823-6825)ctG>ctA		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						79.0	75.0	76.0					15																	42042630		1896	4119	6015	SO:0001819	synonymous_variant	23269	0	0					g.chr15:42042630G>A	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.6825G>A	chr15.hg19:g.42042630G>A		0					MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L	p.L2275L			0	1	1	1.989262	O43451	MGA_HUMAN		16	6825	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	1	1	hg19	c.6825G>A	CCDS55959.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.351805	1	0.170000	NM_001164273.1			52	51		166	164	1		1	1		0	0	40	0		1	9.998584e-01	0	14	0	32	0	52	166
MGA	23269	broad.mit.edu	37	15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000570161.1	+	22	7799	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L			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)			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)	GTGATGACTCCGCAAGGGCAA	0.443																																						ENST00000570161.1	1.000000	0.790000	1	9.200000e-01	0.990000	0.972168	0.990000	1.000000																										0				95						c.(7798-7800)cCg>cTg		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						116.0	119.0	118.0					15																	42057138		2019	4187	6206	SO:0001583	missense	23269	3	120992	36				g.chr15:42057138C>T	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.7799C>T	chr15.hg19:g.42057138C>T	ENSP00000457035:p.Pro2600Leu	0					MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L	p.P2600L			0	1	1	1.989262	O43451	MGA_HUMAN		22	7799	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	1	1	hg19	c.7799C>T	CCDS55959.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835652	0.91117	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86956	-2.16;-2.14;-2.19	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.50627	D	0.000118	D	0.89448	0.6718	N	0.24115	0.695	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90607	0.4549	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2391;2600	F5H7K2;E7ENI0	.;.	L	2600;2561;2391	ENSP00000219905:P2600L;ENSP00000374586:P2561L;ENSP00000442467:P2391L	ENSP00000219905:P2600L	P	+	2	0	0	MGA	39844430	39844430	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.505880	1	0.170000	NM_001164273.1			49	49		491	481	0		1	1		0	0	87	0		1	8.483585e-01	0	2	0	34	0	49	491
MGA	23269	broad.mit.edu	37	15	42058209	42058209	+	Silent	SNP	C	C	T	rs370684330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000570161.1	+	23	7929	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000219905.7_Silent_p.D2643D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D			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)			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)	CAGAAAATGACGACTTATTTA	0.353																																						ENST00000570161.1	0.880000	0.350000	7.400000e-01	4.600000e-01	0.590000	0.607083	0.590000	0.580000																										0				95						c.(7927-7929)gaC>gaT		MGA, MAX dimerization protein	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C	,	0,3640		0,0,1820	69.0	65.0	66.0		7302,7929	-1.0	1.0	15		66	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,5902	TT,TC,CC		0.0122,0.0,0.0085	,	2434/2857,2643/3066	42058209	1,11805	1820	4083	5903	SO:0001819	synonymous_variant	23269	6	120800	38				g.chr15:42058209C>T	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.7929C>T	chr15.hg19:g.42058209C>T		0					MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000219905.7_Silent_p.D2643D	p.D2643D			0	1	1	1.989262	O43451	MGA_HUMAN		23	7929	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	1	1	hg19	c.7929C>T	CCDS55959.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-18.461590	1	0.170000	NM_001164273.1			17	16		323	320	0		1	0		0	0	60	0		9.999647e-01	6.497556e-01	0	0	0	43	0	17	323
MAPKBP1	23005	broad.mit.edu	37	15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000456763.2	+	13	1581	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D456G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557																																						ENST00000456763.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999632	0.990000	1.000000																										0				56						c.(1384-1386)gAc>gGc		mitogen-activated protein kinase binding protein 1							61.0	51.0	55.0					15																	42107871		2203	4300	6503	SO:0001583	missense	23005	0	0					g.chr15:42107871A>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1385A>G	chr15.hg19:g.42107871A>G	ENSP00000393099:p.Asp462Gly	0					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G	p.D462G	NM_001128608.1	NP_001122080.1	0	1	1	1.989262	O60336	MABP1_HUMAN		13	1581	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	1	1	hg19	c.1385A>G	CCDS45239.1	1	.	.	.	.	.	.	.	.	.	.	a	19.42	3.824024	0.71143	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.48522	0.81;0.94;1.09;0.87;1.03	5.67	5.67	0.87782	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.24115	0.695	0.80722	D	1	D;D;B;B	0.89917	1.0;1.0;0.007;0.005	D;D;B;B	0.91635	0.998;0.999;0.008;0.008	T	0.59878	-0.7371	10	0.54805	T	0.06	-23.4698	15.9544	0.79871	1.0:0.0:0.0:0.0	.	295;456;462;456	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	456;339;295;462;456	ENSP00000397570:D456G;ENSP00000221214:D339G;ENSP00000260357:D295G;ENSP00000393099:D462G;ENSP00000426154:D456G	ENSP00000221214:D339G	D	+	2	0	0	MAPKBP1	39895163	39895163	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.238000	0.65366	2.176000	0.68965	0.374000	0.22700	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_014994			19	17		95	94	1		1	0		0	0	34	0		9.999934e-01	4.105090e-01	0	1	0	7	0	19	95
MAPKBP1	23005	broad.mit.edu	37	15	42116132	42116132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000456763.2	+	30	4300	c.4104C>T	c.(4102-4104)ccC>ccT	p.P1368P	RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000457542.2_Silent_p.P1362P|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Silent_p.P1245P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607																																						ENST00000456763.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(4102-4104)ccC>ccT		mitogen-activated protein kinase binding protein 1							54.0	62.0	59.0					15																	42116132		2203	4300	6503	SO:0001819	synonymous_variant	23005	0	0					g.chr15:42116132C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4104C>T	chr15.hg19:g.42116132C>T		0					MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000457542.2_Silent_p.P1362P|RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.P1201P	p.P1368P	NM_001128608.1	NP_001122080.1	0	1	1	1.989262	O60336	MABP1_HUMAN		30	4300	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	1	1	hg19	c.4104C>T	CCDS45239.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-3.010351	1	0.170000	NM_014994			110	108		506	496	1		1	1		0	0	133	0		1	9.427424e-01	0	7	0	17	0	110	506
MAPKBP1	23005	broad.mit.edu	37	15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000456763.2	+	31	4434	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A1407V|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642																																						ENST00000456763.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998176	0.990000	1.000000																										0				56						c.(4237-4239)gCg>gTg		mitogen-activated protein kinase binding protein 1							36.0	33.0	34.0					15																	42116688		2199	4296	6495	SO:0001583	missense	23005	2	120944	25				g.chr15:42116688C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4238C>T	chr15.hg19:g.42116688C>T	ENSP00000393099:p.Ala1413Val	0					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A1407V|RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V	p.A1413V	NM_001128608.1	NP_001122080.1	0	1	1	1.989262	O60336	MABP1_HUMAN		31	4434	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	1	1	hg19	c.4238C>T	CCDS45239.1	1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.448093	0.26074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41400	1.18;1.34;1.0;1.22;1.3	5.06	-3.72	0.04411	5.06	-3.72	0.04411	.	0.774545	0.11970	N	0.511842	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	1	B;B;B;B;B;B	0.12013	0.0;0.003;0.0;0.0;0.005;0.004	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.003;0.004	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.479	3.9825	0.09501	0.0955:0.373:0.1026:0.4289	.	1246;1288;1246;1130;1413;1407	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	V	1407;1290;1246;1413;1130	ENSP00000397570:A1407V;ENSP00000221214:A1290V;ENSP00000260357:A1246V;ENSP00000393099:A1413V;ENSP00000426154:A1130V	ENSP00000221214:A1290V	A	+	2	0	0	MAPKBP1	39903980	39903980	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.042000	0.12063	-0.616000	0.05671	-1.278000	0.01390	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-19.918360	1	0.170000	NM_014994			11	11		47	46	1		1	1		0	0	15	0		9.987668e-01	8.488868e-01	0	4	0	13	0	11	47
MAPKBP1	23005	broad.mit.edu	37	15	42117590	42117590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000456763.2	+	32	4697	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L	JMJD7_ENST00000408047.1_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|JMJD7_ENST00000397299.4_5'Flank|MAPKBP1_ENST00000457542.2_Silent_p.L1495L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602																																						ENST00000456763.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				56						c.(4501-4503)Ctg>Ttg		mitogen-activated protein kinase binding protein 1							37.0	37.0	37.0					15																	42117590		2203	4300	6503	SO:0001819	synonymous_variant	23005	0	0					g.chr15:42117590C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4501C>T	chr15.hg19:g.42117590C>T		0					MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000457542.2_Silent_p.L1495L|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7_ENST00000397299.4_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|JMJD7_ENST00000408047.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank	p.L1501L	NM_001128608.1	NP_001122080.1	0	1	1	1.989262	O60336	MABP1_HUMAN		32	4697	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	1	1	hg19	c.4501C>T	CCDS45239.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_014994			37	36		200	196	1		1	1		0	0	43	0		1	9.025446e-01	0	5	0	19	0	37	200
PLA2G4B	100137049	broad.mit.edu	37	15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T	rs199962342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000452633.1	+	12	1115	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	255	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GCTGGCCGTGCGACTGGGCTT	0.642													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18886	0.0		0.001	False		,,,				2504	0.0					ENST00000452633.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(763-765)Cga>Tga		phospholipase A2, group IVB (cytosolic)		C	stop/ARG,stop/ARG,stop/ARG	1,4405		0,1,2202	37.0	36.0	36.0		763,1456,1456	5.2	1.0	15		36	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	255/782,486/894,486/1013	42135893	3,13003	2203	4300	6503	SO:0001587	stop_gained	100137049	21	121406	44				g.chr15:42135893C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.763C>T	chr15.hg19:g.42135893C>T	ENSP00000396045:p.Arg255*	0					PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*	p.R255*			0	1	1	1.989262	P0C869	PA24B_HUMAN		12	1115	+		all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	ENST00000452633.1	0	0	hg19	c.763C>T	CCDS45241.1	1	.	.	.	.	.	.	.	.	.	.	.	37	6.069963	0.97256	2.27E-4	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9013	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	X	486;486;255;255	.	ENSP00000342785:R486X	R	+	1	2	2	JMJD7-PLA2G4B;PLA2G4B	39923185	39923185	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.545000	0.53648	2.573000	0.86826	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.376773	1	0.170000	NM_001114633			62	62		250	244	1		1	0		0	0	52	0		1	3.461869e-01	0	1	0	5	0	62	250
PLA2G4B	100137049	broad.mit.edu	37	15	42136770	42136770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000452633.1	+	13	1333	c.981C>T	c.(979-981)tgC>tgT	p.C327C	PLA2G4B_ENST00000542534.2_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|PLA2G4B_ENST00000458483.1_Silent_p.C327C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	327	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTTGGATTGCGTCTCCTACA	0.637																																						ENST00000452633.1	1.000000	0.630000	1	7.400000e-01	0.860000	0.864103	0.860000	1.000000																										0										c.(979-981)tgC>tgT		phospholipase A2, group IVB (cytosolic)							82.0	82.0	82.0					15																	42136770		2203	4300	6503	SO:0001819	synonymous_variant	100137049	2	121412	35				g.chr15:42136770C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.981C>T	chr15.hg19:g.42136770C>T		0					PLA2G4B_ENST00000542534.2_Silent_p.C558C|PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C	p.C327C			0	1	1	1.989262	P0C869	PA24B_HUMAN		13	1333	+		all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	1	0	hg19	c.981C>T	CCDS45241.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	1		18	2	2	1		1	1	111		111	111	1	2.060000	-10.436220	1	0.170000	NM_001114633			43	42		538	526	0		1	0		1	0	111	0		9.996275e-01	1.449854e-01	0	1	0	8	0	43	538
PLA2G4B	100137049	broad.mit.edu	37	15	42137858	42137858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000452633.1	+	16	1732	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PLA2G4B_ENST00000542534.2_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|PLA2G4B_ENST00000458483.1_Silent_p.Y460Y			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	460	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTCTCCCTACGAGGTCGGCT	0.612																																						ENST00000452633.1	1.000000	0.540000	1	6.800000e-01	0.830000	0.832451	0.830000	1.000000																										0										c.(1378-1380)taC>taT		phospholipase A2, group IVB (cytosolic)							69.0	64.0	66.0					15																	42137858		2203	4300	6503	SO:0001819	synonymous_variant	100137049	1	121412	35				g.chr15:42137858C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1380C>T	chr15.hg19:g.42137858C>T		0					PLA2G4B_ENST00000542534.2_Silent_p.Y691Y|PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y	p.Y460Y			0	1	1	1.989262	P0C869	PA24B_HUMAN		16	1732	+		all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	1	0	hg19	c.1380C>T	CCDS45241.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_001114633			23	23		300	297	0		1	0		0	0	80	0		9.999994e-01	1.672167e-01	0	0	0	10	0	23	300
PLA2G4B	100137049	broad.mit.edu	37	15	42139009	42139009	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000452633.1	+	19	2275	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PLA2G4B_ENST00000542534.2_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|PLA2G4B_ENST00000458483.1_Silent_p.D641D			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	641	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TGTCATTGGACTACAACCTCC	0.637																																						ENST00000452633.1	0.470000	0.180000	3.900000e-01	2.300000e-01	0.300000	0.319120	0.300000	0.310000																										0										c.(1921-1923)gaC>gaT		phospholipase A2, group IVB (cytosolic)							84.0	79.0	81.0					15																	42139009		2203	4300	6503	SO:0001819	synonymous_variant	100137049	0	0					g.chr15:42139009C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1923C>T	chr15.hg19:g.42139009C>T		0					PLA2G4B_ENST00000542534.2_Silent_p.D872D|PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D	p.D641D			0	1	1	1.989262	P0C869	PA24B_HUMAN		19	2275	+		all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	0	1	hg19	c.1923C>T	CCDS45241.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	0	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-13.217530	1	0.170000	NM_001114633			16	16		601	584	0		1	0		0	0	117	0		9.999156e-01	2.481467e-02	0	0	0	9	0	16	601
PLA2G4B	100137049	broad.mit.edu	37	15	42139603	42139603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000452633.1	+	20	2368	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	PLA2G4B_ENST00000542534.2_Silent_p.P903P|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|PLA2G4B_ENST00000458483.1_Silent_p.P672P			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	672	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGCCCAGCCCCGAAGAGCAGC	0.677																																						ENST00000452633.1	0.620000	0.340000	5.500000e-01	4.000000e-01	0.460000	0.478136	0.460000	0.470000																										0										c.(2014-2016)ccC>ccT		phospholipase A2, group IVB (cytosolic)							80.0	85.0	83.0					15																	42139603		2203	4300	6503	SO:0001819	synonymous_variant	100137049	2	121410	40				g.chr15:42139603C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2016C>T	chr15.hg19:g.42139603C>T		0					PLA2G4B_ENST00000542534.2_Silent_p.P903P|PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|JMJD7-PLA2G4B_ENST00000342159.4_Intron	p.P672P			0	1	1	1.989262	P0C869	PA24B_HUMAN		20	2368	+		all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	0	1	hg19	c.2016C>T	CCDS45241.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	0	0	1		20	2	2	1		1	1	177		177	173	1	2.060000	-2.447908	0	0.170000	NM_001114633			41	42		981	962	0		1	0		1	0	177	0		9.975540e-01	7.323349e-02	0	0	0	11	0	41	981
SPTBN5	51332	broad.mit.edu	37	15	42162667	42162667	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1847					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)			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)		AGGACTTCCAAGAGATCTCTG	0.647																																						ENST00000320955.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998958	0.990000	1.000000																										0				62						c.(5539-5541)Ttg>Ctg		spectrin, beta, non-erythrocytic 5							70.0	75.0	73.0					15																	42162667		2030	4182	6212	SO:0001819	synonymous_variant	51332	0	0					g.chr15:42162667A>G	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.5539T>C	chr15.hg19:g.42162667A>G		0						p.L1847L	NM_016642.2	NP_057726.4	0	1	1	1.989262	Q9NRC6	SPTN5_HUMAN		30	5766	-		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)		Silent	SNP	ENST00000320955.6	1	1	hg19	c.5539T>C		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_016642			28	28		188	185	1		1			0	0	45	0		1	0	0	0	0	0	0	28	188
SPTBN5	51332	broad.mit.edu	37	15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1702					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)			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)		TGCACCACACGCTGCTGCTCA	0.612																																						ENST00000320955.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(5104-5106)Cgt>Tgt		spectrin, beta, non-erythrocytic 5							36.0	40.0	39.0					15																	42164561		2110	4252	6362	SO:0001583	missense	51332	2	120914	34				g.chr15:42164561G>A	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.5104C>T	chr15.hg19:g.42164561G>A	ENSP00000317790:p.Arg1702Cys	0						p.R1702C	NM_016642.2	NP_057726.4	0	1	1	1.989262	Q9NRC6	SPTN5_HUMAN		27	5331	-		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)		Missense_Mutation	SNP	ENST00000320955.6	1	1	hg19	c.5104C>T		1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.597539	0.46318	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.12	-8.23	0.01033	4.12	-8.23	0.01033	.	2.359520	0.01718	N	0.028136	T	0.51500	0.1678	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.54174	0.744	T	0.63932	-0.6525	10	0.56958	D	0.05	.	11.1247	0.48310	0.0:0.2549:0.581:0.1641	.	1702	Q9NRC6	SPTN5_HUMAN	C	1702	ENSP00000317790:R1702C	ENSP00000317790:R1702C	R	-	1	0	0	SPTBN5	39951853	39951853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-1.364000	0.02161	-1.086000	0.02197	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_016642			29	29		82	82	1		1	1		0	0	21	0		1	7.219376e-02	0	2	0	0	0	29	82
SPTBN5	51332	broad.mit.edu	37	15	42166183	42166183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42166183G>A	ENST00000320955.6	-	25	4977	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1584					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)			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)		GCCAGGCTCCGCCCAGAACTC	0.632																																						ENST00000320955.6	0.930000	0.210000	7.100000e-01	3.300000e-01	0.500000	0.529573	0.500000	0.460000																										0				62						c.(4750-4752)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							28.0	33.0	32.0					15																	42166183		2027	4200	6227	SO:0001583	missense	51332	0	0					g.chr15:42166183G>A	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.4750C>T	chr15.hg19:g.42166183G>A	ENSP00000317790:p.Arg1584Trp	0						p.R1584W	NM_016642.2	NP_057726.4	0	1	1	1.989262	Q9NRC6	SPTN5_HUMAN		25	4977	-		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)		Missense_Mutation	SNP	ENST00000320955.6	0	1	hg19	c.4750C>T		0	.	.	.	.	.	.	.	.	.	.	.	5.857	0.342341	0.11069	.	.	ENSG00000137877	ENST00000320955	T	0.36340	1.26	5.26	3.38	0.38709	5.26	3.38	0.38709	.	0.357061	0.24606	N	0.037096	T	0.27098	0.0664	L	0.48362	1.52	0.09310	N	1	B	0.26081	0.141	B	0.22880	0.042	T	0.19257	-1.0311	10	0.42905	T	0.14	.	5.2006	0.15262	0.1607:0.0:0.5872:0.2521	.	1584	Q9NRC6	SPTN5_HUMAN	W	1584	ENSP00000317790:R1584W	ENSP00000317790:R1584W	R	-	1	2	2	SPTBN5	39953475	39953475	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.047000	0.11963	0.603000	0.29913	-0.130000	0.14895	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	0	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-8.834858	1	0.170000	NM_016642			6	6		141	139	0		1	0		0	0	21	0		9.644791e-01	0	0	0	0	1	0	6	141
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A	rs528552734		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					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.R342W(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)		AGTAGCTGCCGCATGGCGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.001	False		,,,				2504	0.0					ENST00000320955.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R342W(1)	prostate(1)	62						c.(1024-1026)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							25.0	29.0	28.0					15																	42178429		2001	4186	6187	SO:0001583	missense	51332	6	120908	33				g.chr15:42178429G>A	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.1024C>T	chr15.hg19:g.42178429G>A	ENSP00000317790:p.Arg342Trp	0						p.R342W	NM_016642.2	NP_057726.4	0	1	1	1.989262	Q9NRC6	SPTN5_HUMAN		7	1251	-		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)		Missense_Mutation	SNP	ENST00000320955.6	1	1	hg19	c.1024C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	2	SPTBN5	39965721	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.236568	1	0.170000	NM_016642			48	48		222	220	1		1	0		0	0	47	0		1	0	0	0	0	1	0	48	222
EHD4	30844	broad.mit.edu	37	15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	241	Dynamin-type G.				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)			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)		CCTAGGGACCACATGAGGGCC	0.632																																						ENST00000220325.4	0.710000	0.220000	5.700000e-01	3.100000e-01	0.430000	0.450392	0.430000	0.410000																										0				20						c.(721-723)Tgg>Ggg		EH-domain containing 4							79.0	73.0	75.0					15																	42211611		2203	4299	6502	SO:0001583	missense	30844	0	0					g.chr15:42211611A>C	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.721T>G	chr15.hg19:g.42211611A>C	ENSP00000220325:p.Trp241Gly	0					CTD-2382E5.4_ENST00000564168.1_RNA	p.W241G	NM_139265.3	NP_644670.1	0	1	1	1.989262	Q9H223	EHD4_HUMAN		4	804	-		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)	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	1	1	hg19	c.721T>G	CCDS10081.1	0	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435371	0.83885	.	.	ENSG00000103966	ENST00000220325	D	0.94862	-3.54	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99568	1.0970	10	0.87932	D	0	-11.9241	15.2845	0.73816	1.0:0.0:0.0:0.0	.	241	Q9H223	EHD4_HUMAN	G	241	ENSP00000220325:W241G	ENSP00000220325:W241G	W	-	1	0	0	EHD4	39998903	39998903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.017000	0.59298	0.533000	0.62120	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-12.415930	1	0.170000	NM_139265			11	11		294	292	0		1	1		0	0	67	0		9.983232e-01	9.973687e-01	0	15	0	264	0	11	294
PLA2G4E	123745	broad.mit.edu	37	15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	837	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)			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)		AGAGCCTGGAGGAGAGTGTCC	0.547																																						ENST00000399518.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999933	0.990000	1.000000																										0				16						c.(2545-2547)Ctc>Ttc		phospholipase A2, group IVE							59.0	59.0	59.0					15																	42276014		1915	4122	6037	SO:0001583	missense	123745	0	0					g.chr15:42276014G>A		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.2545C>T	chr15.hg19:g.42276014G>A	ENSP00000382434:p.Leu849Phe	0					CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F	p.L849F	NM_001206670.1	NP_001193599.1	0	1	1	1.989262	Q3MJ16	PA24E_HUMAN		20	3031	-		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)	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	1	1	hg19	c.2545C>T	CCDS55962.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823967	0.32237	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04603	3.59;3.59	5.56	2.41	0.29592	5.56	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.450271	0.21517	N	0.073294	T	0.06234	0.0161	M	0.80982	2.52	0.24240	N	0.995364	P;B	0.44816	0.844;0.279	B;B	0.34242	0.178;0.178	T	0.33214	-0.9877	10	0.59425	D	0.04	-2.2893	5.4388	0.16496	0.1566:0.0:0.5502:0.2932	.	820;837	C9JK77;Q3MJ16	.;PA24E_HUMAN	F	849;820	ENSP00000382434:L849F;ENSP00000413897:L820F	ENSP00000382434:L849F	L	-	1	0	0	PLA2G4E	40063306	40063306	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	1.983000	0.40648	0.658000	0.30925	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_198442			16	16		50	49	1		1			0	0	16	0		9.999667e-01	0	0	0	0	0	0	16	50
PLA2G4E	123745	broad.mit.edu	37	15	42285034	42285034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	445	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)			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)		CCTGGAATTTGCGGAGCTGGT	0.582																																						ENST00000399518.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1369-1371)cgC>cgT		phospholipase A2, group IVE							49.0	51.0	51.0					15																	42285034		1930	4144	6074	SO:0001819	synonymous_variant	123745	0	0					g.chr15:42285034G>A		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.1371C>T	chr15.hg19:g.42285034G>A		0					CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.R428R	p.R457R	NM_001206670.1	NP_001193599.1	0	1	1	1.989262	Q3MJ16	PA24E_HUMAN		13	1857	-		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)	Q6ZSC0	Silent	SNP	ENST00000399518.3	1	1	hg19	c.1371C>T	CCDS55962.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_198442			47	47		224	219	1		1			0	0	59	0		1	0	0	0	0	0	0	47	224
PLA2G4D	283748	broad.mit.edu	37	15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|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)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612																																						ENST00000290472.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1525-1527)Gga>Aga		phospholipase A2, group IVD (cytosolic)							49.0	52.0	51.0					15																	42364020		2203	4299	6502	SO:0001583	missense	283748	2	121412	31				g.chr15:42364020C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1525G>A	chr15.hg19:g.42364020C>T	ENSP00000290472:p.Gly509Arg	0						p.G509R	NM_178034.3	NP_828848.3	0	1	1	1.989262	Q86XP0	PA24D_HUMAN		15	1619	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	Q8N176	Missense_Mutation	SNP	ENST00000290472.3	1	1	hg19	c.1525G>A	CCDS32203.1	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349577	0.61183	.	.	ENSG00000159337	ENST00000290472	T	0.51325	0.71	4.79	3.86	0.44501	4.79	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076843	0.49916	N	0.000126	T	0.75715	0.3887	M	0.93462	3.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	T	0.82890	-0.0233	10	0.87932	D	0	-29.4707	14.5948	0.68397	0.0:0.8528:0.1472:0.0	.	509	Q86XP0	PA24D_HUMAN	R	509	ENSP00000290472:G509R	ENSP00000290472:G509R	G	-	1	0	0	PLA2G4D	40151312	40151312	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.846000	0.69444	0.997000	0.38969	-0.305000	0.09177	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.227133	1	0.170000	NM_178034			69	69		370	367	1		1	0		0	0	79	0		1	6.820405e-02	0	1	0	2	0	69	370
PLA2G4D	283748	broad.mit.edu	37	15	42373813	42373813	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|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)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617																																						ENST00000290472.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.992461	0.990000	1.000000																										0				27						c.e11-1		phospholipase A2, group IVD (cytosolic)							53.0	56.0	55.0					15																	42373813		2203	4299	6502	SO:0001630	splice_region_variant	283748	1	121410	34				g.chr15:42373813C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.822-1G>A	chr15.hg19:g.42373813C>T		0							NM_178034.3	NP_828848.3	0	1	1	1.989262	Q86XP0	PA24D_HUMAN		11	916	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	Q8N176	Splice_Site	SNP	ENST00000290472.3	1	1	hg19		CCDS32203.1	1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271183	0.40194	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.58	4.58	0.56647	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PLA2G4D	40161105	40161105	1.000000	0.71417	0.945000	0.38365	0.007000	0.05969	4.928000	0.63447	2.267000	0.75376	0.650000	0.86243	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_178034	Intron		46	46		406	393	1		1			0	0	79	0		1	0	0	0	0	0	0	46	406
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000348544.4	-	16	1596	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_ENST00000318006.5_Silent_p.L522L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	533					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557																																						ENST00000348544.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1597-1599)Ctg>Ttg		vacuolar protein sorting 39 homolog (S. cerevisiae)							92.0	87.0	89.0					15																	42458803		2203	4299	6502	SO:0001819	synonymous_variant	23339	0	0					g.chr15:42458803G>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1597C>T	chr15.hg19:g.42458803G>A		0					VPS39_ENST00000318006.5_Silent_p.L522L	p.L533L			0	1	1	1.989262	Q96JC1	VPS39_HUMAN		16	1596	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	1	1	hg19	c.1597C>T	CCDS10083.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.462875	1	0.170000	NM_015289			50	50		208	202	1		1	1		0	0	71	0		1	1	0	22	0	96	0	50	208
VPS39	23339	broad.mit.edu	37	15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000348544.4	-	6	325	c.326C>A	c.(325-327)aCt>aAt	p.T109N	VPS39_ENST00000568357.1_5'Flank|VPS39_ENST00000318006.5_Missense_Mutation_p.T98N			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	109	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368																																						ENST00000348544.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(325-327)aCt>aAt		vacuolar protein sorting 39 homolog (S. cerevisiae)							211.0	176.0	188.0					15																	42481361		2203	4299	6502	SO:0001583	missense	23339	0	0					g.chr15:42481361G>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.326C>A	chr15.hg19:g.42481361G>T	ENSP00000335193:p.Thr109Asn	0					VPS39_ENST00000568357.1_5'Flank|VPS39_ENST00000318006.5_Missense_Mutation_p.T98N	p.T109N			0	1	1	1.989262	Q96JC1	VPS39_HUMAN		6	325	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	1	1	hg19	c.326C>A	CCDS10083.1	1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896044	0.72639	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04654	3.58;3.58	5.92	5.92	0.95590	5.92	5.92	0.95590	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.54323	1.7	0.80722	D	1	P;P	0.45428	0.642;0.858	B;B	0.41666	0.288;0.363	T	0.42498	-0.9448	10	0.14252	T	0.57	-13.9161	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;98	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	98;109	ENSP00000326534:T98N;ENSP00000335193:T109N	ENSP00000326534:T98N	T	-	2	0	0	VPS39	40268653	40268653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.822000	0.97130	0.650000	0.86243	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_015289			74	74		313	306	1		1	1		0	0	79	0		1	9.999977e-01	0	13	0	69	0	74	313
TMEM87A	25963	broad.mit.edu	37	15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	380						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383																																						ENST00000389834.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1138-1140)aTt>aGt		transmembrane protein 87A							96.0	93.0	94.0					15																	42521011		2203	4299	6502	SO:0001583	missense	25963	0	0					g.chr15:42521011A>C	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1139T>G	chr15.hg19:g.42521011A>C	ENSP00000374484:p.Ile380Ser	0					RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	p.I380S	NM_015497.3	NP_056312.2	0	1	1	1.989262	Q8NBN3	TM87A_HUMAN		13	1403	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	1	1	hg19	c.1139T>G	CCDS32205.1	1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583501	0.65992	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.546137	0.15099	U	0.280612	T	0.43634	0.1256	N	0.19112	0.55	0.80722	D	1	P	0.42203	0.773	P	0.44623	0.455	T	0.18555	-1.0333	9	0.14252	T	0.57	-2.8816	15.5958	0.76578	1.0:0.0:0.0:0.0	.	380	Q8NBN3	TM87A_HUMAN	S	380;319;356	.	ENSP00000374484:I380S	I	-	2	0	0	TMEM87A	40308303	40308303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.277000	0.76020	0.528000	0.53228	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_015497			57	56		278	269	1		1	1		0	0	61	0		1	1	0	66	0	213	0	57	278
GANC	2595	broad.mit.edu	37	15	42602499	42602499	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000318010.8	+	9	981	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000566442.1_Silent_p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	247					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			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)	ATGCTTACCGTCTTTATAACC	0.343																																						ENST00000318010.8	0.500000	0.190000	4.200000e-01	2.500000e-01	0.320000	0.340975	0.320000	0.320000																										0				23						c.(739-741)cgT>cgC		glucosidase, alpha; neutral C	Miglitol(DB00491)						103.0	103.0	103.0					15																	42602499		2203	4299	6502	SO:0001819	synonymous_variant	2595	0	0					g.chr15:42602499T>C	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.741T>C	chr15.hg19:g.42602499T>C		0					GANC_ENST00000566442.1_Silent_p.R247R	p.R247R	NM_198141.2	NP_937784.2	0	1	1	1.989262	Q8TET4	GANC_HUMAN		9	981	+		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)	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	1	1	hg19	c.741T>C	CCDS10084.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	0	0	1		19	3	2	1		1	1	102		102	102	1	2.060000	-3.322505	1	0.170000	NM_198141			16	16		561	552	0		0	0		1	0	102	0		3.462709e-01	5.207669e-02	0	2	0	26	0	16	561
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			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)	TCCAGAGACAGAGCTGCTAGT	0.542																																						ENST00000318010.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1879-1881)Gag>Aag		glucosidase, alpha; neutral C	Miglitol(DB00491)						94.0	93.0	93.0					15																	42631902		2203	4299	6502	SO:0001583	missense	2595	0	0					g.chr15:42631902G>A	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.1879G>A	chr15.hg19:g.42631902G>A	ENSP00000326227:p.Glu627Lys	0						p.E627K	NM_198141.2	NP_937784.2	0	1	1	1.989262	Q8TET4	GANC_HUMAN		17	2119	+		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)	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	1	1	hg19	c.1879G>A	CCDS10084.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.972882	0.97162	.	.	ENSG00000214013	ENST00000318010	D	0.95205	-3.64	6.03	6.03	0.97812	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.98113	1.0421	10	0.87932	D	0	-20.7149	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627	Q8TET4	GANC_HUMAN	K	627	ENSP00000326227:E627K	ENSP00000326227:E627K	E	+	1	0	0	GANC	40419194	40419194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	1	0	1		2	2	2	0		0	0	122		122	116	1	2.060000	-3.568332	1	0.170000	NM_198141			113	112		439	432	1		1	1		0	0	122	0		1	9.549968e-01	0	2	0	20	0	113	439
CAPN3	825	broad.mit.edu	37	15	42652272	42652272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42652272G>A	ENST00000397163.3	+	1	488	c.269G>A	c.(268-270)aGc>aAc	p.S90N	CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	90	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)			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)		CTCTTTTATAGCCAGAAGTTC	0.498																																						ENST00000397163.3	0.250000	0.110000	2.200000e-01	1.400000e-01	0.170000	0.182327	0.170000	0.180000																										0				47						c.(268-270)aGc>aAc		calpain 3, (p94)							180.0	200.0	193.0					15																	42652272		2203	4299	6502	SO:0001583	missense	825	0	0					g.chr15:42652272G>A	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.269G>A	chr15.hg19:g.42652272G>A	ENSP00000380349:p.Ser90Asn	0					RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N	p.S90N	NM_000070.2	NP_000061.1	0	1	1	1.989262	P20807	CAN3_HUMAN		1	488	+		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)	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	0	1	hg19	c.269G>A	CCDS45245.1	0	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278620	0.80692	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.83	5.83	0.93111	5.83	5.83	0.93111	Peptidase C2, calpain, catalytic domain (3);	0.148988	0.46442	U	0.000295	D	0.96281	0.8787	N	0.16016	0.355	0.58432	D	0.999996	B;P;D	0.53619	0.206;0.951;0.961	B;P;P	0.61477	0.141;0.823;0.889	D	0.95688	0.8738	10	0.32370	T	0.25	.	20.1047	0.97888	0.0:0.0:1.0:0.0	.	90;90;90	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	N	90	ENSP00000380349:S90N;ENSP00000350181:S90N;ENSP00000183936:S90N;ENSP00000326281:S90N	ENSP00000326281:S90N	S	+	2	0	0	CAPN3	40439564	40439564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.438000	0.59961	2.762000	0.94881	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	0	0	1		2	2	2	0		0	0	329		329	325	1	2.060000	-2.716748	1	0.170000				27	26		1765	1734	0		1			0	0	329	0		9.999999e-01	0	0	0	0	0	0	27	1765
CAPN3	825	broad.mit.edu	37	15	42676689	42676689	+	Silent	SNP	C	C	T	rs117609395	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42676689C>T	ENST00000397163.3	+	2	537	c.318C>T	c.(316-318)tgC>tgT	p.C106C	CAPN3_ENST00000357568.3_Silent_p.C106C|CAPN3_ENST00000318023.7_Silent_p.C106C|CAPN3_ENST00000349748.3_Silent_p.C106C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C19C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	106	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.C106C(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)		AGGAAATTTGCGAGAATCCCC	0.418													C|||	13	0.00259585	0.0015	0.0029	5008	,	,		21222	0.0		0.0089	False		,,,				2504	0.0					ENST00000397163.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999465	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C106C(1)	prostate(1)	47						c.(316-318)tgC>tgT		calpain 3, (p94)		C	,,	4,4402	8.1+/-20.4	0,4,2199	134.0	129.0	131.0		318,318,318	-4.1	1.0	15	dbSNP_132	131	78,8520	45.8+/-104.6	1,76,4222	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	,,	1,80,6421	TT,TC,CC		0.9072,0.0908,0.6306	,,	106/822,106/816,106/730	42676689	82,12922	2203	4299	6502	SO:0001819	synonymous_variant	825	579	121412	60				g.chr15:42676689C>T	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.318C>T	chr15.hg19:g.42676689C>T		0					RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C19C|CAPN3_ENST00000349748.3_Silent_p.C106C|CAPN3_ENST00000318023.7_Silent_p.C106C|CAPN3_ENST00000357568.3_Silent_p.C106C	p.C106C	NM_000070.2	NP_000061.1	0	1	1	1.989262	P20807	CAN3_HUMAN		2	537	+		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)	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	1	0	hg19	c.318C>T	CCDS45245.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.316243	1	0.170000				40	39		283	273	1		1	0		0	0	81	0		1	1.232754e-01	0	1	0	4	0	40	283
CAPN3	825	broad.mit.edu	37	15	42693957	42693957	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000349748.3_Silent_p.K443K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.K404K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	491	Domain III.				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)			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)		ACCGGCGGAAGGACCGGAAGC	0.577																																						ENST00000397163.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1471-1473)aaG>aaA		calpain 3, (p94)							71.0	61.0	64.0					15																	42693957		2203	4299	6502	SO:0001819	synonymous_variant	825	0	0					g.chr15:42693957G>A	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.1473G>A	chr15.hg19:g.42693957G>A		0					RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000357568.3_Silent_p.K491K	p.K491K	NM_000070.2	NP_000061.1	0	1	1	1.989262	P20807	CAN3_HUMAN		11	1692	+		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)	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	1	1	hg19	c.1473G>A	CCDS45245.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				39	39		139	134	1		1	0		0	0	42	0		1	3.983670e-01	0	1	0	5	0	39	139
CAPN3	825	broad.mit.edu	37	15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000569136.1_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	519	Domain III.				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)			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)		GAACAAGCAGCACCTGCAGAA	0.612																																						ENST00000397163.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				47						c.(1555-1557)Cac>Tac		calpain 3, (p94)							99.0	75.0	83.0					15																	42695010		2203	4299	6502	SO:0001583	missense	825	0	0					g.chr15:42695010C>T	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.1555C>T	chr15.hg19:g.42695010C>T	ENSP00000380349:p.His519Tyr	0					CAPN3_ENST00000397204.4_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y	p.H519Y	NM_000070.2	NP_000061.1	0	1	1	1.989262	P20807	CAN3_HUMAN		13	1774	+		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)	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	1	1	hg19	c.1555C>T	CCDS45245.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538072	0.85917	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	4.87	4.87	0.63330	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93360	0.7883	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.996;0.999;0.999;0.993	D;D;D;D;D;D	0.72338	0.961;0.961;0.935;0.962;0.977;0.952	D	0.94129	0.7386	10	0.87932	D	0	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	384;432;471;519;519;432	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	432;7;519;519;471;519;7	ENSP00000348667:H432Y;ENSP00000380349:H519Y;ENSP00000350181:H519Y;ENSP00000183936:H471Y;ENSP00000326281:H519Y;ENSP00000380384:H7Y	ENSP00000326281:H519Y	H	+	1	0	0	CAPN3	40482302	40482302	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.584000	0.82572	2.527000	0.85204	0.455000	0.32223	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				50	48		285	281	0		1	1		0	0	74	0		1	2.274886e-01	0	3	0	3	0	50	285
CAPN3	825	broad.mit.edu	37	15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	718	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)		CAGGAGTTCCACCACCTCTGG	0.537																																						ENST00000397163.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2152-2154)cAc>cGc		calpain 3, (p94)							98.0	103.0	102.0					15																	42702663		2203	4299	6502	SO:0001583	missense	825	0	0					g.chr15:42702663A>G	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.2153A>G	chr15.hg19:g.42702663A>G	ENSP00000380349:p.His718Arg	0					CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R	p.H718R	NM_000070.2	NP_000061.1	0	1	1	1.989262	P20807	CAN3_HUMAN		20	2372	+		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)	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	1	1	hg19	c.2153A>G	CCDS45245.1	1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843131	0.32606	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.72	4.72	0.59763	4.72	4.72	0.59763	EF-hand-like domain (1);	0.225090	0.35646	U	0.003074	T	0.48607	0.1509	N	0.01686	-0.76	0.32931	D	0.517108	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.003;0.002;0.0	B;B;B;B;B;B;B	0.11329	0.004;0.006;0.006;0.002;0.003;0.001;0.006	T	0.53387	-0.8446	10	0.11485	T	0.65	.	9.2716	0.37675	0.9082:0.0:0.0918:0.0	.	583;631;53;626;712;718;625	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	R	625;206;718;712;626;712;206;53;53	ENSP00000348667:H625R;ENSP00000380349:H718R;ENSP00000350181:H712R;ENSP00000183936:H626R;ENSP00000326281:H712R;ENSP00000380384:H206R;ENSP00000336840:H53R;ENSP00000380387:H53R	ENSP00000326281:H712R	H	+	2	0	0	CAPN3	40489955	40489955	0.930000	0.31532	0.998000	0.56505	0.653000	0.38743	1.396000	0.34531	1.992000	0.58205	0.460000	0.39030	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				103	100		358	345	1		1	0		0	0	110	0		1	5.635764e-01	0	1	0	7	0	103	358
SNAP23	8773	broad.mit.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418																																						ENST00000249647.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(556-558)Cga>Tga		synaptosomal-associated protein, 23kDa							102.0	96.0	98.0					15																	42822003		2203	4299	6502	SO:0001587	stop_gained	8773	0	0					g.chr15:42822003C>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.556C>T	chr15.hg19:g.42822003C>T	ENSP00000249647:p.Arg186*	0					SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Intron	p.R186*	NM_003825.3	NP_003816.2	0	1	1	1.989262	O00161	SNP23_HUMAN		7	1024	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	ENST00000249647.3	0	1	hg19	c.556C>T	CCDS10087.1	1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	2	SNAP23	40609295	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_003825			61	61		335	331	0		1	1		0	0	76	0		1	1	0	187	0	389	0	61	335
SNAP23	8773	broad.mit.edu	37	15	42823668	42823668	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42823668G>T	ENST00000249647.3	+	8	1096	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	210					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GAAACTCATTGACAGCTAAAG	0.383																																						ENST00000249647.3	0.390000	0.120000	3.200000e-01	1.700000e-01	0.240000	0.252530	0.240000	0.240000																										0				2						c.(628-630)Gac>Tac		synaptosomal-associated protein, 23kDa							161.0	145.0	151.0					15																	42823668		2203	4299	6502	SO:0001583	missense	8773	0	0					g.chr15:42823668G>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.628G>T	chr15.hg19:g.42823668G>T	ENSP00000249647:p.Asp210Tyr	0					SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F	p.D210Y	NM_003825.3	NP_003816.2	0	1	1	1.989262	O00161	SNP23_HUMAN		8	1096	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	0	1	hg19	c.628G>T	CCDS10087.1	0	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641378	0.67244	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	4.69	0.59074	5.64	4.69	0.59074	.	0.362190	0.32190	N	0.006450	T	0.64821	0.2633	L	0.44542	1.39	0.42954	D	0.994389	P;P	0.48640	0.913;0.88	P;P	0.59171	0.733;0.853	T	0.65957	-0.6042	9	0.51188	T	0.08	-8.3922	12.7923	0.57541	0.084:0.0:0.916:0.0	.	157;210	O00161-2;O00161	.;SNP23_HUMAN	Y	210;157;157	.	ENSP00000249647:D210Y	D	+	1	0	0	SNAP23	40610960	40610960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.110000	0.31147	1.298000	0.44778	0.563000	0.77884	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	0	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-2.707327	1	0.170000	NM_003825			12	12		584	579	0		1	1		0	0	119	0		9.990799e-01	9.972984e-01	0	12	0	478	0	12	584
HAUS2	55142	broad.mit.edu	37	15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	91					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363																																						ENST00000260372.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(271-273)Act>Gct		HAUS augmin-like complex, subunit 2							96.0	92.0	93.0					15																	42853482		2203	4299	6502	SO:0001583	missense	55142	0	0					g.chr15:42853482A>G	AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.271A>G	chr15.hg19:g.42853482A>G	ENSP00000260372:p.Thr91Ala	0					HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	p.T91A	NM_018097.2	NP_060567.1	0	1	1	1.989262	Q9NVX0	HAUS2_HUMAN		4	334	+			C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	1	1	hg19	c.271A>G	CCDS10090.1	1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004160	0.35320	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46451	0.87	5.8	-2.36	0.06663	5.8	-2.36	0.06663	.	1.191630	0.05775	N	0.607497	T	0.19725	0.0474	N	0.11427	0.14	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.25363	-1.0134	10	0.07030	T	0.85	-15.2457	8.1408	0.31082	0.3617:0.0:0.5174:0.1208	.	60;91	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	A	91;60	ENSP00000260372:T91A	ENSP00000260372:T91A	T	+	1	0	0	HAUS2	40640774	40640774	0.000000	0.05858	0.019000	0.16419	0.996000	0.88848	-0.165000	0.09968	-0.184000	0.10567	0.533000	0.62120	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_018097			53	52		242	240	1		1	1		0	0	76	0		1	9.999983e-01	0	27	0	66	0	53	242
CDAN1	146059	broad.mit.edu	37	15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	516					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)				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)		AGCACCACCAGGGCTCTGACA	0.527																																						ENST00000356231.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1546-1548)cCt>cTt		codanin 1							33.0	36.0	35.0					15																	43024010		2203	4299	6502	SO:0001583	missense	146059	0	0					g.chr15:43024010G>A	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.1547C>T	chr15.hg19:g.43024010G>A	ENSP00000348564:p.Pro516Leu	0						p.P516L	NM_138477.2	NP_612486.2	0	1	1	1.989262	Q8IWY9	CDAN1_HUMAN		11	1570	-		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)	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	1	1	hg19	c.1547C>T	CCDS32209.1	1	.	.	.	.	.	.	.	.	.	.	g	19.04	3.749927	0.69533	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	5.97	3.08	0.35506	5.97	3.08	0.35506	.	0.100299	0.64402	N	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88797	0.3282	10	0.72032	D	0.01	-3.2241	8.6882	0.34251	0.1292:0.0:0.746:0.1248	.	516	Q8IWY9	CDAN1_HUMAN	L	516;514	ENSP00000348564:P516L	ENSP00000267892:P514L	P	-	2	0	0	CDAN1	40811302	40811302	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	6.110000	0.71535	0.417000	0.25871	-0.141000	0.14075	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.463824	1	0.170000	XM_085300			62	62		248	245	1		1	1		0	0	48	0		1	9.389576e-01	0	6	0	15	0	62	248
CDAN1	146059	broad.mit.edu	37	15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	341					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)				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)		GGTCGCTGTCCTTGGCAGTCA	0.493																																						ENST00000356231.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997200	0.990000	1.000000																										0				24						c.(1021-1023)aaG>aaT		codanin 1							36.0	36.0	36.0					15																	43027493		2203	4299	6502	SO:0001583	missense	146059	0	0					g.chr15:43027493C>A	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.1023G>T	chr15.hg19:g.43027493C>A	ENSP00000348564:p.Lys341Asn	0						p.K341N	NM_138477.2	NP_612486.2	0	1	1	1.989262	Q8IWY9	CDAN1_HUMAN		5	1046	-		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)	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	0	1	hg19	c.1023G>T	CCDS32209.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384808	0.25031	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.65	0.31530	5.94	2.65	0.31530	.	0.252628	0.45867	D	0.000321	T	0.80358	0.4608	L	0.29908	0.895	0.33438	D	0.581967	P	0.37276	0.589	B	0.39027	0.288	D	0.83626	0.0142	10	0.51188	T	0.08	-9.1438	11.5676	0.50815	0.0:0.7932:0.0:0.2068	.	341	Q8IWY9	CDAN1_HUMAN	N	341;339	ENSP00000348564:K341N	ENSP00000267892:K339N	K	-	3	2	2	CDAN1	40814785	40814785	0.710000	0.27896	0.810000	0.32431	0.414000	0.31173	0.783000	0.26802	0.874000	0.35823	0.561000	0.74099	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999090	1	0.170000	XM_085300			13	12		70	70	1		1	1		0	0	14	0		9.996554e-01	8.835559e-01	0	5	0	18	0	13	70
CDAN1	146059	broad.mit.edu	37	15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	320					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)				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)		CAAGAAGAGGTTTGGTACCAG	0.498																																						ENST00000356231.3	1.000000	0.450000	1	7.000000e-01	0.990000	0.889902	0.990000	1.000000																										0				24						c.(958-960)aAc>aGc		codanin 1							34.0	38.0	36.0					15																	43027557		2203	4299	6502	SO:0001583	missense	146059	0	0					g.chr15:43027557T>C	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.959A>G	chr15.hg19:g.43027557T>C	ENSP00000348564:p.Asn320Ser	0						p.N320S	NM_138477.2	NP_612486.2	0	1	1	1.989262	Q8IWY9	CDAN1_HUMAN		5	982	-		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)	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	0	1	hg19	c.959A>G	CCDS32209.1	1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525466	0.44969	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.04	4.92	0.64577	6.04	4.92	0.64577	.	0.180260	0.64402	D	0.000014	T	0.80297	0.4597	L	0.31207	0.915	0.42507	D	0.992951	B	0.19583	0.037	B	0.18561	0.022	T	0.74551	-0.3628	10	0.33940	T	0.23	-18.465	6.6711	0.23068	0.0:0.1664:0.0:0.8336	.	320	Q8IWY9	CDAN1_HUMAN	S	320;318	ENSP00000348564:N320S	ENSP00000267892:N318S	N	-	2	0	0	CDAN1	40814849	40814849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.021000	0.41020	2.317000	0.78254	0.459000	0.35465	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-11.316660	1	0.170000	XM_085300			6	6		62	60	0		1	1		0	0	13	0		9.640760e-01	4.675518e-01	0	5	0	11	0	6	62
CDAN1	146059	broad.mit.edu	37	15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	277					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)				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)		GGGGAGGGGCGACCCCAATTC	0.577																																						ENST00000356231.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(829-831)tCg>tTg		codanin 1							37.0	41.0	40.0					15																	43027821		2199	4284	6483	SO:0001583	missense	146059	0	0					g.chr15:43027821G>A	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.830C>T	chr15.hg19:g.43027821G>A	ENSP00000348564:p.Ser277Leu	0						p.S277L	NM_138477.2	NP_612486.2	0	1	1	1.989262	Q8IWY9	CDAN1_HUMAN		4	853	-		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)	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	1	1	hg19	c.830C>T	CCDS32209.1	1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042707	0.19748	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.68	2.26	0.28386	5.68	2.26	0.28386	.	0.396178	0.30667	N	0.009131	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53099	-0.8486	10	0.21540	T	0.41	-0.9898	4.8896	0.13721	0.0897:0.148:0.6104:0.152	.	277	Q8IWY9	CDAN1_HUMAN	L	277;275	ENSP00000348564:S277L	ENSP00000267892:S275L	S	-	2	0	0	CDAN1	40815113	40815113	0.004000	0.15560	0.367000	0.25926	0.071000	0.16799	0.710000	0.25748	0.727000	0.32360	0.561000	0.74099	TCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	1		2	2	2	0		0	0	83		83	77	1	2.060000	-3.640980	1	0.170000	XM_085300			67	67		259	245	1		1	1		0	0	83	0		1	9.455638e-01	0	9	0	12	0	67	259
TTBK2	146057	broad.mit.edu	37	15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	727					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)			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)		CAAATCTGTTCTGCTTCCTCC	0.463																																						ENST00000267890.6	1.000000	0.810000	1	9.200000e-01	0.990000	0.973447	0.990000	1.000000																										0				43						c.(2179-2181)aGa>aTa		tau tubulin kinase 2							154.0	149.0	150.0					15																	43045264		1887	4105	5992	SO:0001583	missense	146057	0	0					g.chr15:43045264C>A	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.2180G>T	chr15.hg19:g.43045264C>A	ENSP00000267890:p.Arg727Ile	0						p.R727I	NM_173500.3	NP_775771.3	0	1	1	1.989262	Q6IQ55	TTBK2_HUMAN		14	2288	-		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)	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	1	1	hg19	c.2180G>T	CCDS42029.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.103999	0.51477	D	0.000086	T	0.52468	0.1736	L	0.54323	1.7	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.54312	0.748;0.383	T	0.53746	-0.8395	10	0.72032	D	0.01	.	13.9765	0.64277	0.0:0.9278:0.0:0.0722	.	658;727	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	727;657;1132	ENSP00000267890:R727I	ENSP00000263802:R1132I	R	-	2	0	0	TTBK2	40832556	40832556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.964000	0.40462	2.661000	0.90470	0.655000	0.94253	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	1	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-17.279390	1	0.170000	NM_173500			67	67		684	674	0		1	0		0	0	150	0		1	2.616680e-01	0	0	0	11	0	67	684
TTBK2	146057	broad.mit.edu	37	15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	625					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)			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)		AGCAGTAGGAGGACCCTCTGC	0.483																																						ENST00000267890.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1873-1875)cCt>cAt		tau tubulin kinase 2							115.0	111.0	112.0					15																	43067457		1871	4110	5981	SO:0001583	missense	146057	0	0					g.chr15:43067457G>T	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.1874C>A	chr15.hg19:g.43067457G>T	ENSP00000267890:p.Pro625His	0						p.P625H	NM_173500.3	NP_775771.3	0	1	1	1.989262	Q6IQ55	TTBK2_HUMAN		13	1982	-		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)	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	1	1	hg19	c.1874C>A	CCDS42029.1	1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685987	0.14973	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37411	1.2	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.411457	0.25587	N	0.029660	T	0.33962	0.0881	L	0.51422	1.61	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.05666	-1.0871	10	0.39692	T	0.17	.	13.1575	0.59527	0.0:0.16:0.84:0.0	.	556;625	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	625;555;1030	ENSP00000267890:P625H	ENSP00000263802:P1030H	P	-	2	0	0	TTBK2	40854749	40854749	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	1.884000	0.39668	2.726000	0.93360	0.650000	0.86243	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	1	0	0		2	2	2	0		0	0	123		123	122	1	2.060000	-3.089443	1	0.170000	NM_173500			100	100		491	487	1		1	1		0	0	123	0		1	4.044449e-01	0	3	0	5	0	100	491
UBR1	197131	broad.mit.edu	37	15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	316					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)			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)		GAACCAAGACGCAAAGCAAAT	0.348																																						ENST00000290650.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(946-948)Cgt>Tgt		ubiquitin protein ligase E3 component n-recognin 1							79.0	78.0	79.0					15																	43351939		2203	4299	6502	SO:0001583	missense	197131	0	0					g.chr15:43351939G>A		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.946C>T	chr15.hg19:g.43351939G>A	ENSP00000290650:p.Arg316Cys	0					UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	p.R316C	NM_174916.2	NP_777576.1	0	1	1	1.989262	Q8IWV7	UBR1_HUMAN		8	1024	-		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)	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	1	1	hg19	c.946C>T	CCDS10091.1	1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505141	0.26949	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72051	0.19;-0.62	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.051151	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39147	1.195	0.58432	D	0.999999	B;B	0.27450	0.134;0.179	B;B	0.17722	0.016;0.019	T	0.60900	-0.7171	10	0.56958	D	0.05	-24.1461	12.402	0.55418	0.0763:0.0:0.9237:0.0	.	316;316	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	316	ENSP00000290650:R316C;ENSP00000371612:R316C	ENSP00000290650:R316C	R	-	1	0	0	UBR1	41139231	41139231	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	5.971000	0.70440	2.746000	0.94184	0.561000	0.74099	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_174916			56	56		253	247	1		1	1		0	0	46	0		1	9.814287e-01	0	9	0	22	0	56	253
EPB42	2038	broad.mit.edu	37	15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000441366.2	-	4	683	c.458C>T	c.(457-459)gCt>gTt	p.A153V	EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000300215.3_Missense_Mutation_p.A183V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	153					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CATGCGCTGAGCCTCATTCTT	0.577																																						ENST00000441366.2	0.680000	0.260000	5.700000e-01	3.400000e-01	0.440000	0.461979	0.440000	0.430000																										0				20						c.(457-459)gCt>gTt		erythrocyte membrane protein band 4.2							159.0	125.0	137.0					15																	43503705		2203	4299	6502	SO:0001583	missense	2038	0	0					g.chr15:43503705G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.458C>T	chr15.hg19:g.43503705G>A	ENSP00000396616:p.Ala153Val	0					EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000300215.3_Missense_Mutation_p.A183V	p.A153V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	0	1	1	1.989262	P16452	EPB42_HUMAN		4	683	-		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;0.215)	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	1	1	hg19	c.458C>T	CCDS45249.1	0	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810516	0.50421	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87256	-1.82;-2.23;-1.82	5.84	4.91	0.64330	5.84	4.91	0.64330	.	0.164522	0.53938	N	0.000053	D	0.83871	0.5348	M	0.64080	1.96	0.30097	N	0.807804	B;P;P	0.45986	0.023;0.87;0.476	B;B;B	0.42138	0.054;0.377;0.209	T	0.80329	-0.1428	10	0.30078	T	0.28	-4.773	8.7641	0.34692	0.0803:0.1502:0.7694:0.0	.	75;183;153	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	V	183;75;153;153	ENSP00000300215:A183V;ENSP00000444699:A75V;ENSP00000396616:A153V	ENSP00000300215:A183V	A	-	2	0	0	EPB42	41290997	41290997	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	1.926000	0.40084	1.460000	0.47911	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-4.161338	1	0.170000	NM_000119			16	16		408	404	0		1			0	0	87	0		9.999310e-01	0	0	0	0	0	0	16	408
TGM5	9333	broad.mit.edu	37	15	43527084	43527084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	586					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)			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)	TTGACAGGTACTGGCTGTACT	0.473																																						ENST00000220420.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1756-1758)caG>caA		transglutaminase 5	L-Glutamine(DB00130)						132.0	122.0	125.0					15																	43527084		2203	4299	6502	SO:0001819	synonymous_variant	9333	0	0					g.chr15:43527084C>T	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.1758G>A	chr15.hg19:g.43527084C>T		0					TGM5_ENST00000349114.4_Silent_p.Q504Q	p.Q586Q	NM_201631.3	NP_963925.2	0	1	1	1.989262	O43548	TGM5_HUMAN		11	1765	-		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)	O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	1	1	hg19	c.1758G>A	CCDS32212.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004245			56	55		302	301	1		1			0	0	89	0		1	0	0	0	0	0	0	56	302
TGM7	116179	broad.mit.edu	37	15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	597					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			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)	TTAGGACCAGCATGGACCTCC	0.547																																						ENST00000452443.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				39						c.(1789-1791)atG>atT		transglutaminase 7	L-Glutamine(DB00130)						99.0	83.0	88.0					15																	43571363		2202	4299	6501	SO:0001583	missense	116179	0	0					g.chr15:43571363C>A	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.1791G>T	chr15.hg19:g.43571363C>A	ENSP00000389466:p.Met597Ile	0						p.M597I	NM_052955.2	NP_443187.1	0	1	1	1.989262	Q96PF1	TGM7_HUMAN		11	1795	-		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)		Missense_Mutation	SNP	ENST00000452443.2	1	1	hg19	c.1791G>T	CCDS32213.1	1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137116	0.09032	.	.	ENSG00000159495	ENST00000452443	T	0.27557	1.66	5.41	2.18	0.27775	5.41	2.18	0.27775	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.464340	0.24645	N	0.036766	T	0.10423	0.0255	N	0.04508	-0.205	0.24677	N	0.99338	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.14252	T	0.57	-12.4081	3.1494	0.06483	0.1786:0.5559:0.1608:0.1046	.	597	Q96PF1	TGM7_HUMAN	I	597	ENSP00000389466:M597I	ENSP00000389466:M597I	M	-	3	0	0	TGM7	41358655	41358655	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	-0.187000	0.09656	0.140000	0.18849	0.650000	0.86243	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_052955			32	31		162	161	1		1			0	0	32	0		1	0	0	0	0	0	0	32	162
TGM7	116179	broad.mit.edu	37	15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	381					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			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)	TTCCCTGATGGCCTTCACAGA	0.607																																						ENST00000452443.2	1.000000	0.620000	1	8.300000e-01	0.990000	0.941695	0.990000	1.000000																										0				39						c.(1141-1143)gCc>gTc		transglutaminase 7	L-Glutamine(DB00130)						47.0	39.0	42.0					15																	43574251		2202	4299	6501	SO:0001583	missense	116179	0	0					g.chr15:43574251G>A	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.1142C>T	chr15.hg19:g.43574251G>A	ENSP00000389466:p.Ala381Val	0						p.A381V	NM_052955.2	NP_443187.1	0	1	1	1.989262	Q96PF1	TGM7_HUMAN		9	1146	-		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)		Missense_Mutation	SNP	ENST00000452443.2	1	1	hg19	c.1142C>T	CCDS32213.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.258926	0.95368	.	.	ENSG00000159495	ENST00000452443	T	0.61859	0.07	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.94306	3.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.87394	0.2365	10	0.87932	D	0	-15.8349	16.4717	0.84113	0.0:0.0:1.0:0.0	.	381	Q96PF1	TGM7_HUMAN	V	381	ENSP00000389466:A381V	ENSP00000389466:A381V	A	-	2	0	0	TGM7	41361543	41361543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.487000	0.83934	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-19.092220	1	0.170000	NM_052955			13	13		126	126	0		1			0	0	28	0		9.995996e-01	0	0	0	0	0	0	13	126
LCMT2	9836	broad.mit.edu	37	15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	403					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532																																						ENST00000305641.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1207-1209)aGc>aTc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						106.0	111.0	109.0					15																	43621480		2201	4299	6500	SO:0001583	missense	9836	0	0					g.chr15:43621480C>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1208G>T	chr15.hg19:g.43621480C>A	ENSP00000307214:p.Ser403Ile	0					LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	p.S403I	NM_014793.4	NP_055608.2	0	1	1	1.989262	O60294	TYW4_HUMAN		1	1323	-		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)	Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	1	1	hg19	c.1208G>T	CCDS10094.1	1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.838980	0.16891	.	.	ENSG00000168806	ENST00000305641	T	0.74315	-0.83	4.99	1.83	0.25207	4.99	1.83	0.25207	.	0.643115	0.16492	N	0.212070	T	0.52306	0.1726	N	0.14661	0.345	0.58432	D	0.999998	B	0.18610	0.029	B	0.16722	0.016	T	0.31364	-0.9946	10	0.33940	T	0.23	-10.8025	5.1773	0.15141	0.2037:0.6553:0.0:0.1411	.	403	O60294	LCMT2_HUMAN	I	403	ENSP00000307214:S403I	ENSP00000307214:S403I	S	-	2	0	0	LCMT2	41408772	41408772	0.188000	0.23250	0.942000	0.38095	0.706000	0.40770	0.084000	0.14891	0.274000	0.22072	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_014793			106	103		448	443	1		1	1		0	0	109	0		1	9.909418e-01	0	11	0	22	0	106	448
ZSCAN29	146050	broad.mit.edu	37	15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	750					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)			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)		CTGGTGAATGATAAGGCTTGA	0.423																																						ENST00000396976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2248-2250)aTc>aGc		zinc finger and SCAN domain containing 29							126.0	120.0	122.0					15																	43653581		2201	4299	6500	SO:0001583	missense	146050	0	0					g.chr15:43653581A>C	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.2249T>G	chr15.hg19:g.43653581A>C	ENSP00000380174:p.Ile750Ser	0					ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	p.I750S	NM_152455.3	NP_689668.3	0	1	1	1.989262	Q8IWY8	ZSC29_HUMAN		5	2383	-		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)	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	1	1	hg19	c.2249T>G	CCDS10095.2	1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750813	0.49257	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.37584	1.19;1.19	5.17	5.17	0.71159	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081571	0.52532	D	0.000068	T	0.22781	0.0550	N	0.04655	-0.195	0.37129	D	0.901151	P;B	0.46220	0.874;0.145	P;P	0.47786	0.542;0.557	T	0.18967	-1.0320	10	0.48119	T	0.1	-11.3561	8.3719	0.32421	0.8254:0.0:0.0:0.1746	.	361;750	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	S	750;361	ENSP00000380174:I750S;ENSP00000380170:I361S	ENSP00000380170:I361S	I	-	2	0	0	ZSCAN29	41440873	41440873	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.242000	0.43106	2.168000	0.68352	0.533000	0.62120	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_152455			119	117		485	476	1		1	1		0	0	97	0		1	9.956824e-01	0	10	0	26	0	119	485
TUBGCP4	27229	broad.mit.edu	37	15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000260383.7	+	6	773	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E173D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	173					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448																																						ENST00000260383.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				21						c.(517-519)gaA>gaC		tubulin, gamma complex associated protein 4							80.0	82.0	82.0					15																	43672359		1884	4107	5991	SO:0001583	missense	27229	0	0					g.chr15:43672359A>C	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.519A>C	chr15.hg19:g.43672359A>C	ENSP00000260383:p.Glu173Asp	0					TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E173D	p.E173D			0	1	1	1.989262	Q9UGJ1	GCP4_HUMAN		6	773	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	1	1	hg19	c.519A>C		1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456013	0.84209	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08370	3.1;3.1	5.72	4.59	0.56863	5.72	4.59	0.56863	.	0.041945	0.85682	D	0.000000	T	0.17534	0.0421	M	0.61703	1.905	0.49687	D	0.99981	D;D	0.55385	0.971;0.964	P;P	0.53490	0.727;0.606	T	0.00626	-1.1638	10	0.45353	T	0.12	-10.5663	11.0935	0.48130	0.9276:0.0:0.0724:0.0	.	173;173	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	173;37	ENSP00000260383:E173D;ENSP00000382387:E37D	ENSP00000260383:E173D	E	+	3	2	2	TUBGCP4	41459651	41459651	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.748000	0.47483	1.101000	0.41535	0.533000	0.62120	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-17.258620	1	0.170000	NM_014444			33	33		183	182	1		1	1		0	0	48	0		1	9.655272e-01	0	4	0	29	0	33	183
TUBGCP4	27229	broad.mit.edu	37	15	43692416	43692416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000260383.7	+	14	1850	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L531L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	532					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443																																						ENST00000260383.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1594-1596)ctC>ctT		tubulin, gamma complex associated protein 4							134.0	132.0	133.0					15																	43692416		1923	4131	6054	SO:0001819	synonymous_variant	27229	0	0					g.chr15:43692416C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1596C>T	chr15.hg19:g.43692416C>T		0					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L531L	p.L532L			0	1	1	1.989262	Q9UGJ1	GCP4_HUMAN		14	1850	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	1	1	hg19	c.1596C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.612770	1	0.170000	NM_014444			55	55		289	285	1		1	1		0	0	76	0		1	9.407655e-01	0	2	0	25	0	55	289
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423																																						ENST00000260383.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1672-1674)Cga>Tga		tubulin, gamma complex associated protein 4							135.0	127.0	129.0					15																	43693986		1907	4130	6037	SO:0001587	stop_gained	27229	0	0					g.chr15:43693986C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1672C>T	chr15.hg19:g.43693986C>T	ENSP00000260383:p.Arg558*	0					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*	p.R558*			0	1	1	1.989262	Q9UGJ1	GCP4_HUMAN		15	1926	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	0	1	hg19	c.1672C>T		1	.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	2	TUBGCP4	41481278	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-2.565350	1	0.170000	NM_014444			78	76		361	351	1		1	1		0	0	68	0		1	9.196091e-01	0	4	0	18	0	78	361
TP53BP1	7158	broad.mit.edu	37	15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000263801.3	-	24	5429	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1726	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)			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)		AAACAAGGTCTTGTTGAGAGG	0.562								Other conserved DNA damage response genes																														ENST00000263801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(5176-5178)aAg>aCg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							106.0	87.0	93.0					15																	43705430		2201	4298	6499	SO:0001583	missense	7158	0	0					g.chr15:43705430T>G	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.5177A>C	chr15.hg19:g.43705430T>G	ENSP00000263801:p.Lys1726Thr	0					TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	p.K1726T	NM_005657.2	NP_005648.1	0	1	1	1.989262	Q12888	TP53B_HUMAN		24	5429	-		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)	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	1	1	hg19	c.5177A>C	CCDS10096.1	1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392771	0.83011	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	6.03	6.03	0.97812	6.03	6.03	0.97812	BRCT (3);	0.159621	0.56097	D	0.000022	D	0.91845	0.7419	L	0.54323	1.7	0.48185	D	0.999607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91443	0.5175	10	0.45353	T	0.12	-18.3041	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1726;1731;1729	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	T	1726;1731;1681;1729	ENSP00000263801:K1726T;ENSP00000371475:K1731T;ENSP00000371470:K1681T;ENSP00000393497:K1729T	ENSP00000263801:K1726T	K	-	2	0	0	TP53BP1	41492722	41492722	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.259000	0.51515	2.308000	0.77769	0.533000	0.62120	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				42	42		190	190	1		1	1		0	0	62	0		1	9.999238e-01	0	22	0	46	0	42	190
TP53BP1	7158	broad.mit.edu	37	15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000263801.3	-	22	5017	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1589	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			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)		TGCTCCAAGGACAGGATGACA	0.473								Other conserved DNA damage response genes																														ENST00000263801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4765-4767)Tcc>Ccc	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							185.0	156.0	166.0					15																	43708516		2201	4298	6499	SO:0001583	missense	7158	0	0					g.chr15:43708516A>G	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.4765T>C	chr15.hg19:g.43708516A>G	ENSP00000263801:p.Ser1589Pro	0					TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	p.S1589P	NM_005657.2	NP_005648.1	0	1	1	1.989262	Q12888	TP53B_HUMAN		22	5017	-		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)	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	1	1	hg19	c.4765T>C	CCDS10096.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442899	0.83993	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	5.57	0.84162	5.57	5.57	0.84162	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.87578	0.993;0.998;0.996;0.996	T	0.63712	-0.6575	10	0.51188	T	0.08	-9.0154	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1594;1589;1594;1594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1589;1594;1544;1594	ENSP00000263801:S1589P;ENSP00000371475:S1594P;ENSP00000371470:S1544P;ENSP00000393497:S1594P	ENSP00000263801:S1589P	S	-	1	0	0	TP53BP1	41495808	41495808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.745000	0.74860	2.247000	0.74100	0.482000	0.46254	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				79	76		344	340	1		1	1		0	0	83	0		1	9.999987e-01	0	16	0	71	0	79	344
TP53BP1	7158	broad.mit.edu	37	15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000263801.3	-	20	4439	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1396					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)			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)		CCCACGCCCACGAGGCGTGAC	0.572								Other conserved DNA damage response genes																														ENST00000263801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4186-4188)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							112.0	100.0	104.0					15																	43713271		2201	4298	6499	SO:0001583	missense	7158	1	121412	32				g.chr15:43713271C>T	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.4187G>A	chr15.hg19:g.43713271C>T	ENSP00000263801:p.Arg1396His	0					TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	p.R1396H	NM_005657.2	NP_005648.1	0	1	1	1.989262	Q12888	TP53B_HUMAN		20	4439	-		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)	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	1	1	hg19	c.4187G>A	CCDS10096.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124623	0.77436	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.16597	2.36;2.36;2.33	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.982;0.992;0.992	T	0.04522	-1.0945	10	0.72032	D	0.01	-11.394	19.5806	0.95465	0.0:1.0:0.0:0.0	.	1401;1396;1401;1401	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1396;1401;1401	ENSP00000263801:R1396H;ENSP00000371475:R1401H;ENSP00000393497:R1401H	ENSP00000263801:R1396H	R	-	2	0	0	TP53BP1	41500563	41500563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.686000	0.91538	0.650000	0.86243	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				127	123		539	519	1		1	1		0	0	103	0		1	9.999584e-01	0	10	0	53	0	127	539
MAP1A	4130	broad.mit.edu	37	15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000300231.5	+	4	3392	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1219G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	981					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)			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)	GGAGAAGCAGAGGAGCGGTGC	0.552																																						ENST00000300231.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2941-2943)gAg>gGg		microtubule-associated protein 1A	Estramustine(DB01196)						112.0	115.0	114.0					15																	43816613		2065	4197	6262	SO:0001583	missense	4130	0	0					g.chr15:43816613A>G	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.2942A>G	chr15.hg19:g.43816613A>G	ENSP00000300231:p.Glu981Gly	0					MAP1A_ENST00000382031.1_Missense_Mutation_p.E1219G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G	p.E981G			0	1	1	1.989262	P78559	MAP1A_HUMAN		4	3392	+		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)	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	1	1	hg19	c.2942A>G	CCDS42031.1	1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087952	0.36855	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02032	4.5;4.49;4.49	5.1	5.1	0.69264	5.1	5.1	0.69264	.	.	.	.	.	T	0.13200	0.0320	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00249	-1.1879	9	0.66056	D	0.02	-20.7677	15.0596	0.71942	1.0:0.0:0.0:0.0	.	981	P78559	MAP1A_HUMAN	G	1219;981;981	ENSP00000371462:E1219G;ENSP00000382380:E981G;ENSP00000300231:E981G	ENSP00000300231:E981G	E	+	2	0	0	MAP1A	41603905	41603905	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	8.729000	0.91490	2.137000	0.66172	0.533000	0.62120	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_002373			119	118		586	575	1		1	0		0	0	157	0		1	9.991639e-01	0	0	0	53	0	119	586
MAP1A	4130	broad.mit.edu	37	15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000300231.5	+	4	3778	c.3328G>A	c.(3328-3330)Ggc>Agc	p.G1110S	MAP1A_ENST00000382031.1_Missense_Mutation_p.G1348S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1110					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)			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)	AGAGCCCACAGGCCCAATTCT	0.507																																						ENST00000300231.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3328-3330)Ggc>Agc		microtubule-associated protein 1A	Estramustine(DB01196)						75.0	79.0	78.0					15																	43816999		1926	4110	6036	SO:0001583	missense	4130	0	0					g.chr15:43816999G>A	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.3328G>A	chr15.hg19:g.43816999G>A	ENSP00000300231:p.Gly1110Ser	0					MAP1A_ENST00000382031.1_Missense_Mutation_p.G1348S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S	p.G1110S			0	1	1	1.989262	P78559	MAP1A_HUMAN		4	3778	+		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)	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	1	1	hg19	c.3328G>A	CCDS42031.1	1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047335	0.19827	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.94	3.02	0.34903	4.94	3.02	0.34903	.	.	.	.	.	T	0.02119	0.0066	M	0.65975	2.015	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.50276	-0.8847	9	0.09084	T	0.74	-0.3322	3.4006	0.07321	0.1578:0.1335:0.5714:0.1373	.	1110	P78559	MAP1A_HUMAN	S	1348;1110;1110	ENSP00000371462:G1348S;ENSP00000382380:G1110S;ENSP00000300231:G1110S	ENSP00000300231:G1110S	G	+	1	0	0	MAP1A	41604291	41604291	0.039000	0.19947	0.144000	0.22314	0.531000	0.34715	2.172000	0.42463	1.315000	0.45114	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_002373			83	83		417	406	1		1	0		0	0	113	0		1	9.926046e-01	0	0	0	40	0	83	417
MAP1A	4130	broad.mit.edu	37	15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000300231.5	+	4	4267	c.3817T>C	c.(3817-3819)Tac>Cac	p.Y1273H	MAP1A_ENST00000382031.1_Missense_Mutation_p.Y1511H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1273					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)			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)	GACAACTCGATACTCTGCACA	0.537																																						ENST00000300231.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3817-3819)Tac>Cac		microtubule-associated protein 1A	Estramustine(DB01196)						94.0	105.0	101.0					15																	43817488		2146	4257	6403	SO:0001583	missense	4130	0	0					g.chr15:43817488T>C	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.3817T>C	chr15.hg19:g.43817488T>C	ENSP00000300231:p.Tyr1273His	0					MAP1A_ENST00000382031.1_Missense_Mutation_p.Y1511H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H	p.Y1273H			0	1	1	1.989262	P78559	MAP1A_HUMAN		4	4267	+		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)	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	1	1	hg19	c.3817T>C	CCDS42031.1	1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639184	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.89	2.45	0.29901	4.89	2.45	0.29901	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	9	0.15952	T	0.53	-2.1529	1.6221	0.02716	0.1669:0.1003:0.3468:0.3861	.	1273	P78559	MAP1A_HUMAN	H	1511;1273;1273	ENSP00000371462:Y1511H;ENSP00000382380:Y1273H;ENSP00000300231:Y1273H	ENSP00000300231:Y1273H	Y	+	1	0	0	MAP1A	41604780	41604780	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.119000	0.15626	0.855000	0.35359	0.460000	0.39030	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_002373			52	51		266	260	1		1	0		0	0	57	0		1	9.763923e-01	0	0	0	33	0	52	266
MAP1A	4130	broad.mit.edu	37	15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000300231.5	+	4	5761	c.5311C>T	c.(5311-5313)Cgc>Tgc	p.R1771C	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2009C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1771					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)			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)	AGAGGTGGAGCGCTGGCTTGC	0.587																																						ENST00000300231.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(5311-5313)Cgc>Tgc		microtubule-associated protein 1A	Estramustine(DB01196)						84.0	86.0	86.0					15																	43818982		1973	4150	6123	SO:0001583	missense	4130	0	0					g.chr15:43818982C>T	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.5311C>T	chr15.hg19:g.43818982C>T	ENSP00000300231:p.Arg1771Cys	0					MAP1A_ENST00000382031.1_Missense_Mutation_p.R2009C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C	p.R1771C			0	1	1	1.989262	P78559	MAP1A_HUMAN		4	5761	+		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)	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	1	1	hg19	c.5311C>T	CCDS42031.1	1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006320	0.35415	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01947	4.54;4.54;4.55	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.000000	0.34314	N	0.004061	T	0.04048	0.0113	L	0.32530	0.975	0.43512	D	0.995775	D	0.69078	0.997	P	0.52710	0.707	T	0.48387	-0.9040	10	0.72032	D	0.01	-0.4217	9.7751	0.40614	0.0:0.9038:0.0:0.0962	.	1771	P78559	MAP1A_HUMAN	C	2009;1771;1771	ENSP00000371462:R2009C;ENSP00000382380:R1771C;ENSP00000300231:R1771C	ENSP00000300231:R1771C	R	+	1	0	0	MAP1A	41606274	41606274	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	2.321000	0.78463	0.455000	0.32223	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000	NM_002373			116	115		619	610	1		1	0		0	0	149	0		1	9.968765e-01	0	0	0	48	0	116	619
PPIP5K1	9677	broad.mit.edu	37	15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T	rs201054366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000396923.3	-	8	945	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	275					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493																																						ENST00000396923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(823-825)tCt>tAt		diphosphoinositol pentakisphosphate kinase 1																																				SO:0001583	missense	9677	0	0					g.chr15:43873540G>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.824C>A	chr15.hg19:g.43873540G>T	ENSP00000380129:p.Ser275Tyr	0					PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y	p.S275Y			0	1	1	1.989262	Q6PFW1	VIP1_HUMAN		8	945	-			O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	1	1	hg19	c.824C>A	CCDS45252.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216593	0.79352	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.52295	0.68;0.72;1.33;0.72;0.67;0.67;0.68;1.33	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.059970	0.64402	D	0.000002	T	0.77322	0.4113	M	0.93720	3.45	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;1.0;1.0	D	0.84384	0.0551	10	0.87932	D	0	-13.8522	17.9907	0.89168	0.0:0.0:1.0:0.0	.	275;275;275;275	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Y	275;275;275;275;275;275;275;275;275;275;276	ENSP00000371309:S275Y;ENSP00000353446:S275Y;ENSP00000353253:S275Y;ENSP00000334779:S275Y;ENSP00000380129:S275Y;ENSP00000400887:S275Y;ENSP00000371303:S275Y;ENSP00000308773:S275Y	ENSP00000304750:S275Y	S	-	2	0	0	PPIP5K1	41660832	41660832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.444000	0.82710	0.644000	0.83932	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	0	0	1		2	2	2	0		0	0	145		145	226	1	2.060000	-4.686251	1	0.170000	NM_014659			87	64		441	355	0		1	0		0	0	145	0		1	7.407197e-02	0	0	0	3	0	87	441
STRC	161497	broad.mit.edu	37	15	43897593	43897593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43897593G>A	ENST00000450892.2	-	19	3876	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1267					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)				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)		TCCATCAACTGGATCCTATTA	0.532																																						ENST00000450892.2	1.000000	0.210000	1	4.200000e-01	0.720000	0.713273	0.720000	1.000000																										0				4						c.(3799-3801)Cag>Tag		stereocilin							35.0	27.0	30.0					15																	43897593		2199	4297	6496	SO:0001587	stop_gained	161497	0	0					g.chr15:43897593G>A	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.3799C>T	chr15.hg19:g.43897593G>A	ENSP00000401513:p.Gln1267*	0					RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	p.Q1267*	NM_153700.2	NP_714544.1	0	1	1	1.989262	Q7RTU9	STRC_HUMAN		19	3876	-		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)		Nonsense_Mutation	SNP	ENST00000450892.2	0	1	hg19	c.3799C>T	CCDS10098.1	0	.	.	.	.	.	.	.	.	.	.	G	38	7.279096	0.98182	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.46	3.59	0.41128	5.46	3.59	0.41128	.	0.845936	0.10432	N	0.675342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.6165	8.9018	0.35499	0.1737:0.0:0.8263:0.0	.	.	.	.	X	1267;1267;494	.	ENSP00000299992:Q1267X	Q	-	1	0	0	STRC	41684885	41684885	0.133000	0.22466	0.020000	0.16555	0.230000	0.25150	1.498000	0.35660	0.795000	0.33922	0.556000	0.70494	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-7.491751	1	0.170000	NM_153700			3	3		49	48	0		1			0	0	13	0		8.064020e-01	0	0	0	0	0	0	3	49
STRC	161497	broad.mit.edu	37	15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	152					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)				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)		GTAGGGGGGCCCCCAGGAACT	0.637																																						ENST00000450892.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.992664	0.990000	1.000000																										0				4						c.(454-456)Ggc>Agc		stereocilin							44.0	65.0	58.0					15																	43910165		2196	4296	6492	SO:0001583	missense	161497	0	0					g.chr15:43910165C>T	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.454G>A	chr15.hg19:g.43910165C>T	ENSP00000401513:p.Gly152Ser	0					STRC_ENST00000541030.1_5'UTR	p.G152S	NM_153700.2	NP_714544.1	0	1	1	1.989262	Q7RTU9	STRC_HUMAN		2	531	-		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)		Missense_Mutation	SNP	ENST00000450892.2	1	1	hg19	c.454G>A	CCDS10098.1	1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795824	0.70452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78364	-1.17	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.295993	0.27518	N	0.019002	T	0.66538	0.2799	N	0.24115	0.695	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.66810	-0.5829	10	0.31617	T	0.26	-12.2091	13.9904	0.64362	0.0:1.0:0.0:0.0	.	152;152	E9PBT5;Q7RTU9	.;STRC_HUMAN	S	152;152;152;92	ENSP00000401513:G152S	ENSP00000299992:G152S	G	-	1	0	0	STRC	41697457	41697457	0.541000	0.26417	0.574000	0.28523	0.855000	0.48748	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	0	0	1		2	2	2	0		0	0	89		89	101	1	2.060000	-20.000000	1	0.170000	NM_153700			55	55		496	482	0		1	0		0	0	89	0		1	0	0	0	0	1	0	55	496
CKMT1A	548596	broad.mit.edu	37	15	43990318	43990318	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	ENST00000413453.2	+	7	1507	c.983T>C	c.(982-984)gTg>gCg	p.V328A	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	328	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(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)	Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532																																						ENST00000413453.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(982-984)gTg>gCg		creatine kinase, mitochondrial 1A	Creatine(DB00148)						82.0	69.0	73.0					15																	43990318		2198	4278	6476	SO:0001583	missense	548596	0	0					g.chr15:43990318T>C	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.983T>C	chr15.hg19:g.43990318T>C	ENSP00000406577:p.Val328Ala	0					CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A|STRC_ENST00000541030.1_Intron	p.V328A			0	1	1	1.989262	P12532	KCRU_HUMAN		7	1507	+		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)	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	0	1	hg19	c.983T>C	CCDS32217.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943072	0.73672	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.37058	1.22;1.22	3.72	3.72	0.42706	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54275	-0.8318	7	0.66056	D	0.02	-3.3673	12.4039	0.55428	0.0:0.0:0.0:1.0	.	.	.	.	A	359;328;328	ENSP00000413165:V328A;ENSP00000406577:V328A	ENSP00000406577:V328A	V	+	2	0	0	CKMT1A	41777610	41777610	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.615000	0.83006	1.312000	0.45043	0.327000	0.21459	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1	0	0	1		2	2	2	0		0	0	96		96	168	1	2.060000	-20.000000	1	0.170000				100	92		458	393	0		1	1		0	0	96	0		1	8.774471e-01	0	18	0	1	0	100	458
PDIA3	2923	broad.mit.edu	37	15	44057696	44057696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44057696C>T	ENST00000300289.5	+	6	799	c.651C>T	c.(649-651)gaC>gaT	p.D217D	PDIA3_ENST00000538521.1_Silent_p.D197D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	217				D -> Y (in Ref. 1; BAA03759). {ECO:0000305}.	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 redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGTTTGAGGACAAGACTGTGG	0.358																																						ENST00000300289.5	0.440000	0.170000	3.700000e-01	2.200000e-01	0.290000	0.303220	0.290000	0.290000																										0				17						c.(649-651)gaC>gaT		protein disulfide isomerase family A, member 3							119.0	119.0	119.0					15																	44057696		2198	4298	6496	SO:0001819	synonymous_variant	2923	0	0					g.chr15:44057696C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.651C>T	chr15.hg19:g.44057696C>T		0					PDIA3_ENST00000538521.1_Silent_p.D197D	p.D217D	NM_005313.4	NP_005304.3	0	1	1	1.989262	P30101	PDIA3_HUMAN		6	799	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	0	1	hg19	c.651C>T	CCDS10101.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	0	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-2.960277	1	0.170000	NM_005313			18	17		709	688	0		1	1		0	0	147	0		9.999760e-01	1	0	67	0	3389	0	18	709
PDIA3	2923	broad.mit.edu	37	15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	331					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 redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428																																						ENST00000300289.5	0.730000	0.350000	6.300000e-01	4.300000e-01	0.520000	0.538555	0.520000	0.530000																										0				17						c.(991-993)gCt>gAt		protein disulfide isomerase family A, member 3							123.0	129.0	127.0					15																	44059072		2198	4298	6496	SO:0001583	missense	2923	0	0					g.chr15:44059072C>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.992C>A	chr15.hg19:g.44059072C>A	ENSP00000300289:p.Ala331Asp	0					PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	p.A331D	NM_005313.4	NP_005304.3	0	1	1	1.989262	P30101	PDIA3_HUMAN		8	1140	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	1	1	hg19	c.992C>A	CCDS10101.1	0	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391325	0.42410	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.30714	1.52;1.52	5.74	5.74	0.90152	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.143545	0.64402	D	0.000007	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.004;0.004	T	0.14952	-1.0454	10	0.18276	T	0.48	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	311;331	G5EA52;P30101	.;PDIA3_HUMAN	D	331;306;105;311	ENSP00000300289:A331D;ENSP00000438260:A311D	ENSP00000300289:A331D	A	+	2	0	0	PDIA3	41846364	41846364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.937000	0.56575	2.683000	0.91414	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	1	0	1		2	2	2	0		0	0	125		125	138	1	2.060000	-4.549151	1	0.170000	NM_005313			27	27		575	565	0		1	1		0	0	125	0		9.999999e-01	1	0	70	0	1796	0	27	575
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T|ELL3_ENST00000497465.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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 redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398																																						ENST00000300289.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1312-1314)Gcc>Acc		protein disulfide isomerase family A, member 3							76.0	68.0	70.0					15																	44062493		2198	4298	6496	SO:0001583	missense	2923	0	0					g.chr15:44062493G>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1312G>A	chr15.hg19:g.44062493G>A	ENSP00000300289:p.Ala438Thr	0					PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T|ELL3_ENST00000497465.1_5'Flank	p.A438T	NM_005313.4	NP_005304.3	0	1	1	1.989262	P30101	PDIA3_HUMAN		11	1460	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	1	1	hg19	c.1312G>A	CCDS10101.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.477466	0.96291	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.23147	1.92;1.92	6.04	6.04	0.98038	6.04	6.04	0.98038	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.089021	0.85682	D	0.000000	T	0.51278	0.1665	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.43940	-0.9360	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	418;438	G5EA52;P30101	.;PDIA3_HUMAN	T	438;413;212;418	ENSP00000300289:A438T;ENSP00000438260:A418T	ENSP00000300289:A438T	A	+	1	0	0	PDIA3	41849785	41849785	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_005313			50	49		227	220	1		1	1		0	0	54	0		1	1	0	822	0	2249	0	50	227
HYPK	25764	broad.mit.edu	37	15	44088365	44088365	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	ENST00000406925.1	+	0	26				SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.S132S|SERINC4_ENST00000319327.6_Silent_p.S376S|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							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)		GAAACTCATAGCTGTAAACCT	0.468																																						ENST00000406925.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0												huntingtin interacting protein K							116.0	113.0	114.0					15																	44088365		2198	4298	6496			25764	0	0					g.chr15:44088365G>A	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.-4086G>A	chr15.hg19:g.44088365G>A		0					MIR1282_ENST00000408865.1_RNA|SERINC4_ENST00000319327.6_Silent_p.S376S|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.S132S|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR				0	1	1	1.989262	Q9NX55	HYPK_HUMAN		0	26	+		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)	C9JKJ0|O75408|Q8WUW8|Q9P024	Translation_Start_Site	SNP	ENST00000406925.1	1	0	hg19		CCDS10104.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877537	0.33162	.	.	ENSG00000184716	ENST00000299969	T	0.26518	1.73	5.7	3.78	0.43462	5.7	3.78	0.43462	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	B	0.31077	0.307	B	0.28991	0.097	T	0.09618	-1.0666	8	0.02654	T	1	1.8637	10.4519	0.44526	0.0:0.2839:0.5776:0.1386	.	302	A6NM42	.	V	302	ENSP00000299969:A302V	ENSP00000299969:A302V	A	-	2	0	0	SERINC4	41875657	41875657	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	1.138000	0.31491	0.711000	0.32018	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	0	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000	NM_016400			55	54		317	300	1		1			0	0	90	0		1	0	0	0	0	0	0	55	317
FRMD5	84978	broad.mit.edu	37	15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000417257.1	-	8	855	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V|FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	227	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448																																						ENST00000417257.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(679-681)Ttt>Gtt		FERM domain containing 5							150.0	124.0	133.0					15																	44184228		2198	4298	6496	SO:0001583	missense	84978	0	0					g.chr15:44184228A>C	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.679T>G	chr15.hg19:g.44184228A>C	ENSP00000403067:p.Phe227Val	0					FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V|FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V	p.F227V	NM_032892.3	NP_116281.2	0	1	1	1.989262	Q7Z6J6	FRMD5_HUMAN		8	855	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	1	1	hg19	c.679T>G	CCDS10107.2	1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493163	0.26774	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86432	-2.12;-2.12;-2.12	4.48	4.48	0.54585	4.48	4.48	0.54585	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.137493	0.64402	D	0.000020	T	0.78162	0.4240	N	0.19112	0.55	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.23852	0.049;0.049	T	0.75909	-0.3151	10	0.42905	T	0.14	.	13.0247	0.58808	1.0:0.0:0.0:0.0	.	227;227	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	227;227;193	ENSP00000403067:F227V;ENSP00000384142:F227V;ENSP00000399684:F193V	ENSP00000384142:F227V	F	-	1	0	0	FRMD5	41971520	41971520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.341000	0.90046	2.011000	0.59026	0.377000	0.23210	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	0	0	1		18	2	2	1		1	1	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_032892			59	58		254	251	1		1	0		1	0	57	0		9.999999e-01	9.592453e-02	0	0	0	3	0	59	254
FRMD5	84978	broad.mit.edu	37	15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000417257.1	-	2	357	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000484674.1_5'UTR|FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	61	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428																																						ENST00000417257.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(181-183)Cgc>Tgc		FERM domain containing 5							178.0	169.0	172.0					15																	44216429		2198	4298	6496	SO:0001583	missense	84978	2	121412	38				g.chr15:44216429G>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.181C>T	chr15.hg19:g.44216429G>A	ENSP00000403067:p.Arg61Cys	0					FRMD5_ENST00000484674.1_5'UTR|FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C	p.R61C	NM_032892.3	NP_116281.2	0	1	1	1.989262	Q7Z6J6	FRMD5_HUMAN		2	357	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	1	1	hg19	c.181C>T	CCDS10107.2	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430422	0.83776	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	5.46	0.80206	5.46	5.46	0.80206	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88666	0.3192	10	0.59425	D	0.04	.	16.8041	0.85621	0.0:0.0:1.0:0.0	.	61	Q7Z6J6	FRMD5_HUMAN	C	61;61;27	ENSP00000403067:R61C;ENSP00000384142:R61C;ENSP00000399684:R27C	ENSP00000384142:R61C	R	-	1	0	0	FRMD5	42003721	42003721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.545000	0.60698	2.572000	0.86782	0.467000	0.42956	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-2.962160	1	0.170000	NM_032892			130	131		593	585	1		1	1		0	0	133	0		1	3.694357e-01	0	4	0	3	0	130	593
CASC4	113201	broad.mit.edu	37	15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000345795.2	+	1	401	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000299957.6_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	44						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)		CTGCTTCAGGAGGAGGTGGCC	0.662																																						ENST00000345795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(130-132)gAg>gCg		cancer susceptibility candidate 4							48.0	47.0	47.0					15																	44581358		2198	4297	6495	SO:0001583	missense	113201	0	0					g.chr15:44581358A>C	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.131A>C	chr15.hg19:g.44581358A>C	ENSP00000335063:p.Glu44Ala	0					CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000299957.6_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	p.E44A	NM_177974.2	NP_816929.1	0	1	1	1.989262	Q6P4E1	CASC4_HUMAN		1	401	+		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)	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	1	1	hg19	c.131A>C	CCDS10109.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.276396	0.95459	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.052169	0.85682	D	0.000000	T	0.68696	0.3029	L	0.53249	1.67	0.58432	D	0.999992	D;D;D	0.71674	0.993;0.998;0.998	P;P;D	0.65987	0.879;0.879;0.94	T	0.64786	-0.6325	9	0.21540	T	0.41	-17.9117	15.44	0.75176	1.0:0.0:0.0:0.0	.	44;44;44	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	44;44;44;44;23	.	ENSP00000299957:E44A	E	+	2	0	0	CASC4	42368650	42368650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.050000	0.60909	0.459000	0.35465	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	1	0	1		2	2	2	0		0	0	77		77	69	1	2.060000	-20.000000	1	0.170000	NM_138423			109	104		459	430	1		1	1		0	0	77	0		1	1	0	59	0	150	0	109	459
CASC4	113201	broad.mit.edu	37	15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_ENST00000345795.2_Intron|CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	386						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)		GATGGTAACGTAGGTGAGTAT	0.507																																						ENST00000299957.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1156-1158)gTa>gCa		cancer susceptibility candidate 4							139.0	109.0	120.0					15																	44695169		2198	4298	6496	SO:0001583	missense	113201	0	0					g.chr15:44695169T>C	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	ENST00000299957.6:c.1157T>C	chr15.hg19:g.44695169T>C	ENSP00000299957:p.Val386Ala	0					CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA	p.V386A	NM_138423.3	NP_612432.2	0	1	1	1.989262	Q6P4E1	CASC4_HUMAN		9	1456	+		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)	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000299957.6	1	1	hg19	c.1157T>C	CCDS10108.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299781	0.81136	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.73745	0.3626	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68930	-0.5279	9	0.07813	T	0.8	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	386;386	G5E934;Q6P4E1	.;CASC4_HUMAN	A	386;365	.	ENSP00000299957:V386A	V	+	2	0	0	CASC4	42482461	42482461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_138423			46	44		176	171	1		1	1		0	0	51	0		1	1	0	130	0	272	0	46	176
SPG11	80208	broad.mit.edu	37	15	44855412	44855412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000427534.2_3'UTR|SPG11_ENST00000535302.2_Silent_p.K2300K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2413					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)				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)		CGTATGCCAACTTGTAATACA	0.363																																						ENST00000261866.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(7237-7239)aaG>aaA		spastic paraplegia 11 (autosomal recessive)							133.0	121.0	125.0					15																	44855412		2198	4298	6496	SO:0001819	synonymous_variant	80208	0	0					g.chr15:44855412C>T		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.7239G>A	chr15.hg19:g.44855412C>T		0					SPG11_ENST00000535302.2_Silent_p.K2300K|SPG11_ENST00000427534.2_3'UTR	p.K2413K	NM_025137.3	NP_079413.3	0	1	1	1.989262	Q96JI7	SPTCS_HUMAN		40	7255	-		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)	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	1	1	hg19	c.7239G>A	CCDS10112.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				66	66		233	229	1		1	1		0	0	72	0		1	1	0	28	0	97	0	66	233
SPG11	80208	broad.mit.edu	37	15	44951421	44951421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44951421G>A	ENST00000261866.7	-	3	539	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y|SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	175					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)				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)		AATATAATATGTAGGATGACA	0.368																																						ENST00000261866.7	0.550000	0.160000	4.400000e-01	2.300000e-01	0.320000	0.341726	0.320000	0.310000																										0				72						c.(523-525)Cat>Tat		spastic paraplegia 11 (autosomal recessive)							104.0	103.0	104.0					15																	44951421		2198	4298	6496	SO:0001583	missense	80208	0	0					g.chr15:44951421G>A		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.523C>T	chr15.hg19:g.44951421G>A	ENSP00000261866:p.His175Tyr	0					SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y	p.H175Y	NM_025137.3	NP_079413.3	0	1	1	1.989262	Q96JI7	SPTCS_HUMAN		3	539	-		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)	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	1	1	hg19	c.523C>T	CCDS10112.1	0	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483901	0.26598	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.99	4.13	0.48395	5.99	4.13	0.48395	.	0.589894	0.18157	N	0.149885	T	0.75064	0.3799	L	0.55481	1.735	0.09310	N	1	P;P;P;P	0.45827	0.776;0.787;0.867;0.467	B;B;B;B	0.44044	0.306;0.419;0.439;0.244	T	0.67245	-0.5719	10	0.66056	D	0.02	.	11.0246	0.47739	0.1441:0.0:0.8559:0.0	.	175;175;175;175	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Y	175	ENSP00000261866:H175Y;ENSP00000445278:H175Y;ENSP00000396110:H175Y	ENSP00000261866:H175Y	H	-	1	0	0	SPG11	42738713	42738713	0.115000	0.22152	0.004000	0.12327	0.031000	0.12232	1.881000	0.39638	0.890000	0.36211	-0.156000	0.13503	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-9.948226	1	0.170000				10	10		360	350	0		1	1		0	0	63	0		9.965265e-01	4.819196e-01	0	2	0	54	0	10	360
TRIM69	140691	broad.mit.edu	37	15	45050992	45050992	+	Missense_Mutation	SNP	G	G	T	rs372211170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45050992G>T	ENST00000559390.1	+	5	1681	c.753G>T	c.(751-753)aaG>aaT	p.K251N	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_Missense_Mutation_p.K47N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	251					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)			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)		TCTTAGCCAAGGATATGTTGG	0.453																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000559390.1	0.820000	0.180000	6.300000e-01	2.900000e-01	0.430000	0.464900	0.430000	0.410000																										0				20						c.(751-753)aaG>aaT		tripartite motif containing 69		G	ASN/LYS,ASN/LYS	1,4395	2.1+/-5.4	0,1,2197	80.0	69.0	73.0		276,753	2.8	1.0	15		73	0,8596		0,0,4298	no	missense,missense	TRIM69	NM_080745.3,NM_182985.3	94,94	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	92/342,251/501	45050992	1,12991	2198	4298	6496	SO:0001583	missense	140691	1	121412	30				g.chr15:45050992G>T	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.753G>T	chr15.hg19:g.45050992G>T	ENSP00000453177:p.Lys251Asn	0					TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_Missense_Mutation_p.K47N	p.K251N			0	1	1	1.989262	Q86WT6	TRI69_HUMAN		5	1681	+		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)	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	0	1	hg19	c.753G>T	CCDS32220.1	0	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004820	0.54254	2.27E-4	0.0	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57107	1.07;0.42	5.97	2.82	0.32997	5.97	2.82	0.32997	.	0.201253	0.35040	N	0.003492	T	0.57651	0.2068	L	0.36672	1.1	0.32131	N	0.586813	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77004	0.984;0.989;0.959	T	0.61367	-0.7077	10	0.39692	T	0.17	.	8.6543	0.34053	0.194:0.0:0.806:0.0	.	47;92;251	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	N	251;92	ENSP00000332284:K251N;ENSP00000342922:K92N	ENSP00000332284:K251N	K	+	3	2	2	TRIM69	42838284	42838284	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.160000	0.42348	0.296000	0.22592	0.591000	0.81541	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-8.329174	1	0.170000				6	6		163	161	0		1	0		0	0	34	0		9.645257e-01	0	0	0	0	1	0	6	163
TRIM69	140691	broad.mit.edu	37	15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000559390.1	+	8	2007	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R156K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	360	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)			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)		GATCCTGAGAGGTTTGACTCA	0.478																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000559390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1078-1080)aGg>aAg		tripartite motif containing 69							149.0	149.0	149.0					15																	45059546		2198	4298	6496	SO:0001583	missense	140691	0	0					g.chr15:45059546G>A	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.1079G>A	chr15.hg19:g.45059546G>A	ENSP00000453177:p.Arg360Lys	0					TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R156K	p.R360K			0	1	1	1.989262	Q86WT6	TRI69_HUMAN		8	2007	+		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)	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	1	1	hg19	c.1079G>A	CCDS32220.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675339	0.88445	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.58506	0.33;0.33	5.5	5.5	0.81552	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.77350	0.4117	M	0.85373	2.75	0.37631	D	0.921682	D;D;D	0.64830	0.965;0.994;0.991	P;D;P	0.63877	0.838;0.919;0.9	T	0.82190	-0.0580	10	0.52906	T	0.07	.	16.8968	0.86102	0.0:0.0:1.0:0.0	.	139;201;360	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	360;201	ENSP00000332284:R360K;ENSP00000342922:R201K	ENSP00000332284:R360K	R	+	2	0	0	TRIM69	42846838	42846838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.784000	0.99039	2.589000	0.87451	0.650000	0.86243	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000				117	115		575	558	1		1	0		0	0	130	0		1	2.032009e-01	0	0	0	5	0	117	575
DUOX2	50506	broad.mit.edu	37	15	45394056	45394056	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45394056C>T	ENST00000603300.1	-	21	2988	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R929Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	929	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCATGGTCCCGCAGCATGAA	0.587																																						ENST00000603300.1	0.550000	0.150000	4.400000e-01	2.200000e-01	0.320000	0.338479	0.320000	0.310000																										0				63						c.(2785-2787)cGg>cAg		dual oxidase 2							140.0	115.0	124.0					15																	45394056		2198	4298	6496	SO:0001583	missense	50506	1	121412	29				g.chr15:45394056C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2786G>A	chr15.hg19:g.45394056C>T	ENSP00000475084:p.Arg929Gln	0					DUOX2_ENST00000389039.6_Missense_Mutation_p.R929Q	p.R929Q	NM_014080.4	NP_054799.4	0	1	1	1.989262	Q9NRD8	DUOX2_HUMAN		21	2988	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	0	1	hg19	c.2786G>A	CCDS10117.1	0	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506816	0.64410	.	.	ENSG00000140279	ENST00000389039	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	EF-hand-like domain (1);	0.312746	0.33534	N	0.004807	T	0.29389	0.0732	N	0.22421	0.69	0.49051	D	0.999741	P;P	0.47604	0.812;0.898	B;B	0.35073	0.105;0.195	T	0.06954	-1.0798	9	0.23302	T	0.38	-29.9214	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	929;491	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	929	.	ENSP00000373691:R929Q	R	-	2	0	0	DUOX2	43181348	43181348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.894000	0.99253	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-2.529300	1	0.170000	NM_014080			9	8		330	317	0		1	1		0	0	69	0		9.931912e-01	9.999092e-01	0	24	0	690	0	9	330
DUOXA2	405753	broad.mit.edu	37	15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A	rs371428294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	145					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607																																						ENST00000323030.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(433-435)Gca>Aca		dual oxidase maturation factor 2							56.0	63.0	61.0					15																	45408806		2087	4233	6320	SO:0001583	missense	405753	0	0					g.chr15:45408806G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.433G>A	chr15.hg19:g.45408806G>A	ENSP00000319705:p.Ala145Thr	0					DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	p.A145T	NM_207581.3	NP_997464.2	0	1	1	1.989262	Q1HG44	DOXA2_HUMAN		4	718	+		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)	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	1	1	hg19	c.433G>A	CCDS10118.2	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031029	0.75504	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.62232	0.04	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.106984	0.64402	D	0.000006	T	0.81403	0.4815	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83964	0.0323	10	0.72032	D	0.01	-18.6423	18.5627	0.91107	0.0:0.0:1.0:0.0	.	145	Q1HG44	DOXA2_HUMAN	T	145;100	ENSP00000319705:A145T	ENSP00000319705:A145T	A	+	1	0	0	DUOXA2	43196098	43196098	1.000000	0.71417	0.122000	0.21767	0.005000	0.04900	5.750000	0.68712	2.633000	0.89246	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_207581			61	60		257	252	1		1	1		0	0	102	0		1	1	0	163	0	272	0	61	257
DUOX1	53905	broad.mit.edu	37	15	45431796	45431796	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	463	Peroxidase-like; mediates peroxidase activity.				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)			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)		AGCAATGACACTGTGAGGAGG	0.602																																						ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				57						c.(1387-1389)aCt>aTt		dual oxidase 1							27.0	24.0	25.0					15																	45431796		2198	4298	6496	SO:0001630	splice_region_variant	53905	0	0					g.chr15:45431796C>T	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.1389+1C>T	chr15.hg19:g.45431796C>T		0					DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	p.T463I	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		13	1795	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Splice_Site	SNP	ENST00000321429.4	1	0	hg19	c.1388C>T	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886650	0.17540	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	5.72	2.71	0.32032	5.72	2.71	0.32032	.	0.243293	0.39909	N	0.001234	T	0.52964	0.1767	N	0.25647	0.755	0.32324	N	0.562014	B	0.02656	0.0	B	0.10450	0.005	T	0.55535	-0.8126	10	0.54805	T	0.06	-0.7355	6.0181	0.19615	0.1547:0.6792:0.0:0.1661	.	463	Q9NRD9	DUOX1_HUMAN	I	463	ENSP00000317997:T463I;ENSP00000373689:T463I	ENSP00000317997:T463I	T	+	2	0	0	DUOX1	43219088	43219088	0.017000	0.18338	0.747000	0.31113	0.149000	0.21700	0.147000	0.16202	0.846000	0.35142	0.655000	0.94253	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	40		40	37	1	2.060000	-20.000000	1	0.170000	NM_017434	Missense_Mutation		32	32		152	152	1		1	1		0	0	40	0		1	9.398644e-01	0	8	0	17	0	32	152
DUOX1	53905	broad.mit.edu	37	15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	746					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)			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)		TGGGAGCTGCGGGAGCAGGAG	0.597																																						ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2236-2238)cGg>cAg		dual oxidase 1							93.0	98.0	96.0					15																	45437193		2198	4298	6496	SO:0001583	missense	53905	2	121412	35				g.chr15:45437193G>A	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.2237G>A	chr15.hg19:g.45437193G>A	ENSP00000317997:p.Arg746Gln	0					DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	p.R746Q	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		19	2644	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	1	1	hg19	c.2237G>A	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723706	0.30593	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	4.81	3.9	0.45041	4.81	3.9	0.45041	.	0.255145	0.43260	D	0.000594	T	0.76688	0.4022	L	0.48642	1.525	0.35635	D	0.810526	P	0.46656	0.882	B	0.41332	0.354	T	0.75966	-0.3131	10	0.14252	T	0.57	-18.0719	7.5208	0.27626	0.1912:0.0:0.8088:0.0	.	746	Q9NRD9	DUOX1_HUMAN	Q	746	ENSP00000317997:R746Q;ENSP00000373689:R746Q	ENSP00000317997:R746Q	R	+	2	0	0	DUOX1	43224485	43224485	0.961000	0.32948	0.992000	0.48379	0.898000	0.52572	1.737000	0.38197	1.388000	0.46506	-0.140000	0.14226	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-2.441705	0	0.170000	NM_017434			114	112		526	515	1		1	1		0	0	117	0		1	9.900778e-01	0	12	0	22	0	114	526
DUOX1	53905	broad.mit.edu	37	15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1043	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			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)		AACTACCGGCGCCACATCGGC	0.587																																						ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				57						c.(3127-3129)cGc>cAc		dual oxidase 1							56.0	53.0	54.0					15																	45444185		2198	4298	6496	SO:0001583	missense	53905	2	121412	35				g.chr15:45444185G>A	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.3128G>A	chr15.hg19:g.45444185G>A	ENSP00000317997:p.Arg1043His	0					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H	p.R1043H	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		25	3535	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	1	1	hg19	c.3128G>A	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.103198	0.94245	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87179	-2.22;-2.22	4.17	4.17	0.49024	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.932	D	0.92687	0.6163	10	0.66056	D	0.02	-27.6461	14.3394	0.66614	0.0:0.0:1.0:0.0	.	176;1043	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	1043	ENSP00000317997:R1043H;ENSP00000373689:R1043H	ENSP00000317997:R1043H	R	+	2	0	0	DUOX1	43231477	43231477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.511000	0.98006	2.302000	0.77476	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_017434			39	39		199	192	1		1	1		0	0	40	0		1	8.918829e-01	0	12	0	10	0	39	199
DUOX1	53905	broad.mit.edu	37	15	45448079	45448079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45448079C>A	ENST00000321429.4	+	29	4061	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1218	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			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)		GCCGCAGTTTCCGGGGCTTCT	0.582																																						ENST00000321429.4	0.390000	0.120000	3.200000e-01	1.700000e-01	0.240000	0.252949	0.240000	0.240000																										0				57						c.(3652-3654)ttC>ttA		dual oxidase 1							101.0	96.0	98.0					15																	45448079		2198	4298	6496	SO:0001583	missense	53905	0	0					g.chr15:45448079C>A	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.3654C>A	chr15.hg19:g.45448079C>A	ENSP00000317997:p.Phe1218Leu	0					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L	p.F1218L	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		29	4061	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	0	1	hg19	c.3654C>A	CCDS32221.1	0	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902934	0.72754	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91011	-2.77;-2.77	4.11	3.18	0.36537	4.11	3.18	0.36537	Flavoprotein transmembrane component (1);	0.047507	0.85682	D	0.000000	D	0.95686	0.8597	H	0.96889	3.9	0.80722	D	1	D	0.55385	0.971	P	0.62435	0.902	D	0.94539	0.7743	10	0.87932	D	0	-28.569	6.4686	0.21995	0.0:0.7793:0.0:0.2207	.	1218	Q9NRD9	DUOX1_HUMAN	L	1218	ENSP00000317997:F1218L;ENSP00000373689:F1218L	ENSP00000317997:F1218L	F	+	3	2	2	DUOX1	43235371	43235371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.141000	0.31528	1.050000	0.40346	0.563000	0.77884	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	0	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.008895	1	0.170000	NM_017434			12	12		583	566	0		1	0		0	0	107	0		9.989585e-01	2.571462e-01	0	1	0	44	0	12	583
DUOX1	53905	broad.mit.edu	37	15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1262	Ferric oxidoreductase.				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)			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)		ATCTATGGGGGCGACAAGCTG	0.577																																						ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3784-3786)gGc>gTc		dual oxidase 1							137.0	120.0	126.0					15																	45453117		2198	4298	6496	SO:0001583	missense	53905	0	0					g.chr15:45453117G>T	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.3785G>T	chr15.hg19:g.45453117G>T	ENSP00000317997:p.Gly1262Val	0					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V	p.G1262V	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		30	4192	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	1	1	hg19	c.3785G>T	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487774	0.26686	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85773	-2.03;-2.03	3.47	3.47	0.39725	3.47	3.47	0.39725	.	0.341780	0.30869	N	0.008712	T	0.78729	0.4329	L	0.49256	1.55	0.51767	D	0.999938	B	0.31174	0.311	B	0.29524	0.103	T	0.74216	-0.3737	10	0.15952	T	0.53	-26.5883	12.8006	0.57584	0.0:0.0:1.0:0.0	.	1262	Q9NRD9	DUOX1_HUMAN	V	1262	ENSP00000317997:G1262V;ENSP00000373689:G1262V	ENSP00000317997:G1262V	G	+	2	0	0	DUOX1	43240409	43240409	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.581000	0.53914	1.920000	0.55613	0.462000	0.41574	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_017434			105	104		402	399	1		1	1		0	0	103	0		1	9.995757e-01	0	28	0	18	0	105	402
DUOX1	53905	broad.mit.edu	37	15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1423					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)			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)		ATCTGGGTGACGCGGACCCAG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				57						c.(4267-4269)aCg>aTg		dual oxidase 1		C	MET/THR,MET/THR	2,4394	4.2+/-10.8	0,2,2196	99.0	90.0	93.0		4268,4268	4.4	1.0	15	dbSNP_134	93	0,8596		0,0,4298	yes	missense,missense	DUOX1	NM_017434.3,NM_175940.1	81,81	0,2,6494	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging	1423/1552,1423/1552	45455749	2,12990	2198	4298	6496	SO:0001583	missense	53905	7	121412	39				g.chr15:45455749C>T	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.4268C>T	chr15.hg19:g.45455749C>T	ENSP00000317997:p.Thr1423Met	0		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M	p.T1423M	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		33	4675	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	1	1	hg19	c.4268C>T	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487713	0.84854	4.55E-4	0.0	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95342	-3.68;-3.68	4.36	4.36	0.52297	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98119	1.0424	10	0.87932	D	0	-10.2487	14.4383	0.67298	0.0:1.0:0.0:0.0	.	1423	Q9NRD9	DUOX1_HUMAN	M	1423	ENSP00000317997:T1423M;ENSP00000373689:T1423M	ENSP00000317997:T1423M	T	+	2	0	0	DUOX1	43243041	43243041	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	5.894000	0.69806	2.243000	0.73865	0.491000	0.48974	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	86		86	81	1	2.060000	-20.000000	1	0.170000	NM_017434			45	43		272	264	1		1	1		0	0	86	0		1	9.273450e-01	0	12	0	17	0	45	272
DUOX1	53905	broad.mit.edu	37	15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1468					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)			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)		GACCACTATGCTGGTATGTCA	0.567											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(4402-4404)Ctg>Atg		dual oxidase 1							127.0	115.0	119.0					15																	45455883		2198	4298	6496	SO:0001583	missense	53905	0	0					g.chr15:45455883C>A	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.4402C>A	chr15.hg19:g.45455883C>A	ENSP00000317997:p.Leu1468Met	0		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M	p.L1468M	NM_017434.3	NP_059130.2	0	1	1	1.989262	Q9NRD9	DUOX1_HUMAN		33	4809	+		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)	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	1	1	hg19	c.4402C>A	CCDS32221.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094597	0.56075	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95035	-3.59;-3.59	4.36	1.21	0.21127	4.36	1.21	0.21127	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.94379	0.7603	10	0.87932	D	0	-13.5525	7.5385	0.27725	0.0:0.674:0.0:0.326	.	1468	Q9NRD9	DUOX1_HUMAN	M	1468	ENSP00000317997:L1468M;ENSP00000373689:L1468M	ENSP00000317997:L1468M	L	+	1	2	2	DUOX1	43243175	43243175	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.069000	0.41481	0.474000	0.27392	0.491000	0.48974	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_017434			84	83		361	348	1		1	1		0	0	140	0		1	9.802022e-01	0	8	0	21	0	84	361
SEMA6D	80031	broad.mit.edu	37	15	48055280	48055280	+	Silent	SNP	C	C	T	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	242	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.V242V(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)		AAATCGCTGTCGAACATAATA	0.363																																						ENST00000316364.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999728	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V242V(1)	skin(1)	77						c.(724-726)gtC>gtT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							83.0	79.0	80.0					15																	48055280		2197	4295	6492	SO:0001819	synonymous_variant	80031	1	121366	32				g.chr15:48055280C>T	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.726C>T	chr15.hg19:g.48055280C>T		0					SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V	p.V242V	NM_153618.1	NP_705871.1	0	1	1	1.989262	Q8NFY4	SEM6D_HUMAN		9	1165	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	1	1	hg19	c.726C>T	CCDS32225.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-14.495310	1	0.170000	NM_024966			26	26		150	149	1		1	0		0	0	32	0		1	5.560699e-01	0	1	0	11	0	26	150
SEMA6D	80031	broad.mit.edu	37	15	48056061	48056061	+	Silent	SNP	C	C	T	rs374731818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	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)			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)		TGTATTCCCGCGTGGCCCGCA	0.493																																						ENST00000316364.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(760-762)cgC>cgT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D		C	,,,,,,	1,4395	2.1+/-5.4	0,1,2197	136.0	133.0	134.0		762,762,762,762,762,762,762	-3.7	1.0	15		134	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA6D	NM_001198999.1,NM_020858.1,NM_024966.2,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	254/1012,254/1012,254/477,254/999,254/1018,254/1074,254/598	48056061	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	80031	2	121412	39				g.chr15:48056061C>T	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.762C>T	chr15.hg19:g.48056061C>T		0					SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R	p.R254R	NM_153618.1	NP_705871.1	0	1	1	1.989262	Q8NFY4	SEM6D_HUMAN		10	1201	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	1	1	hg19	c.762C>T	CCDS32225.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	1	0	1		2	2	2	0		0	0	181		181	178	1	2.060000	-20.000000	1	0.170000	NM_024966			163	162		676	662	1		1	0		0	0	181	0		1	1.728490e-01	0	1	0	3	0	163	676
SLC24A5	283652	broad.mit.edu	37	15	48414088	48414088	+	Silent	SNP	G	G	A	rs539688524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000341459.3	+	2	229	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000482911.2_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18597	0.0		0.0	False		,,,				2504	0.0					ENST00000341459.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(154-156)tcG>tcA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							122.0	125.0	124.0					15																	48414088		2198	4297	6495	SO:0001819	synonymous_variant	283652	1	121412	29				g.chr15:48414088G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.156G>A	chr15.hg19:g.48414088G>A		0					SLC24A5_ENST00000482911.2_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron	p.S52S	NM_205850.2	NP_995322.1	0	1	1	1.989262	Q71RS6	NCKX5_HUMAN		2	229	+		all_lung(180;0.00217)	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	1	1	hg19	c.156G>A	CCDS10128.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.710746	1	0.170000	NM_205850			88	86		400	392	1		1			0	0	94	0		1	0	0	0	0	0	0	88	400
SLC24A5	283652	broad.mit.edu	37	15	48426538	48426538	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	129					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGCTTTCCTAGGTAAATATTG	0.388																																						ENST00000341459.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(385-387)Ggt>Agt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							209.0	197.0	201.0					15																	48426538		2198	4297	6495	SO:0001630	splice_region_variant	283652	0	0					g.chr15:48426538G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.385+1G>A	chr15.hg19:g.48426538G>A		0					SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	p.G129S	NM_205850.2	NP_995322.1	0	1	1	1.989262	Q71RS6	NCKX5_HUMAN		3	458	+		all_lung(180;0.00217)	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Splice_Site	SNP	ENST00000341459.3	1	0	hg19	c.385G>A	CCDS10128.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.424352	0.96111	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	5.65	5.65	0.86999	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	10	0.40728	T	0.16	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	69;129	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	129;69	ENSP00000341550:G129S;ENSP00000389966:G69S	ENSP00000341550:G129S	G	+	1	0	0	SLC24A5	46213830	46213830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-2.849880	1	0.170000	NM_205850	Missense_Mutation		74	72		385	378	1		1			0	0	102	0		1	0	0	0	0	0	0	74	385
MYEF2	50804	broad.mit.edu	37	15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	511	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATTCCGCTTCCCATTGGACC	0.393																																						ENST00000324324.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1531-1533)gGa>gAa		myelin expression factor 2							118.0	117.0	118.0					15																	48441415		2198	4296	6494	SO:0001583	missense	50804	0	0					g.chr15:48441415C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1532G>A	chr15.hg19:g.48441415C>T	ENSP00000316950:p.Gly511Glu	0					MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	p.G511E	NM_016132.3	NP_057216	0	1	1	1.989262	Q9P2K5	MYEF2_HUMAN		15	1811	-		all_lung(180;0.00217)	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	1	1	hg19	c.1532G>A	CCDS32230.1	1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417490	0.62622	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.26660	2.21;1.72	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65573	0.936;0.864	T	0.38929	-0.9638	10	0.72032	D	0.01	-10.7172	18.4822	0.90817	0.0:1.0:0.0:0.0	.	487;511	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	511;487;99	ENSP00000316950:G511E;ENSP00000267836:G487E	ENSP00000267836:G487E	G	-	2	0	0	MYEF2	46228707	46228707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.477000	0.60223	2.539000	0.85634	0.585000	0.79938	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	1	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-20.000000	1	0.170000	NM_016132			134	131		555	541	1		1	0		0	0	110	0		1	4.822243e-01	0	0	0	8	0	134	555
SLC12A1	6557	broad.mit.edu	37	15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000558405.1	+	10	1425	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	471					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)			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)	CTCAAGATGTCGACATGAACC	0.423																																						ENST00000558405.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				59						c.(1411-1413)Cga>Tga		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						141.0	119.0	126.0					15																	48537060		2198	4297	6495	SO:0001587	stop_gained	6557	3	121408	35				g.chr15:48537060C>T		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.1411C>T	chr15.hg19:g.48537060C>T	ENSP00000453409:p.Arg471*	0					SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.R471*	p.R471*			0	1	1	1.989262	Q13621	S12A1_HUMAN		10	1425	+		all_lung(180;0.00219)	A8JYA2|E9PDW4	Nonsense_Mutation	SNP	ENST00000558405.1	0	1	hg19	c.1411C>T	CCDS10129.2	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889681	0.91889	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	3.45	0.39498	5.58	3.45	0.39498	.	1.009920	0.07935	N	0.978155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.2468	0.06799	0.22:0.3429:0.3488:0.0882	.	.	.	.	X	284;471;471	.	ENSP00000370381:R471X	R	+	1	2	2	SLC12A1	46324352	46324352	0.000000	0.05858	0.852000	0.33557	0.672000	0.39443	0.158000	0.16422	2.642000	0.89623	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-15.793530	1	0.170000				30	30		168	165	1		1			0	0	46	0		1	0	0	0	0	0	0	30	168
DUT	1854	broad.mit.edu	37	15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A	rs373308210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000559540.1_Missense_Mutation_p.G87D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	175	Substrate binding.			G -> S (in Ref. 6; BAF84204). {ECO:0000305}.	DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328								Modulation of nucleotide pools																														ENST00000331200.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(523-525)gGc>gAc	Modulation of nucleotide pools	deoxyuridine triphosphatase		G	ASP/GLY,ASP/GLY,ASP/GLY	0,4396		0,0,2198	173.0	163.0	166.0		524,191,260	5.3	1.0	15		166	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	DUT	NM_001025248.1,NM_001025249.1,NM_001948.3	94,94,94	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/253,64/142,87/165	48628255	1,12989	2198	4297	6495	SO:0001583	missense	1854	0	0					g.chr15:48628255G>A	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.524G>A	chr15.hg19:g.48628255G>A	ENSP00000370376:p.Gly175Asp	0					DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000558813.1_Missense_Mutation_p.G64D	p.G175D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	0	1	1	1.989262	P33316	DUT_HUMAN		4	617	+		all_lung(180;0.00265)	A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	1	1	hg19	c.524G>A	CCDS32231.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357620	0.82243	0.0	1.16E-4	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.61274	0.12;0.35	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91393	0.5137	10	0.87932	D	0	.	17.9865	0.89157	0.0:0.0:1.0:0.0	.	87;175	P33316-2;P33316	.;DUT_HUMAN	D	175;64;173;87	ENSP00000370376:G175D;ENSP00000405160:G87D	ENSP00000249783:G173D	G	+	2	0	0	DUT	46415547	46415547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.607000	0.88179	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2	1	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				51	51		235	232	1		1	1		0	0	68	0		1	1	0	90	0	218	0	51	235
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2802					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)			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)		TTTAAAGAAGCCATCTTCATT	0.423																																						ENST00000316623.5	1.000000	0.720000	1	8.200000e-01	0.930000	0.922039	0.930000	1.000000																										0				139						c.(8404-8406)gGc>gAc		fibrillin 1							155.0	148.0	150.0					15																	48703398		2198	4297	6495	SO:0001583	missense	2200	0	0					g.chr15:48703398C>T	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.8405G>A	chr15.hg19:g.48703398C>T	ENSP00000325527:p.Gly2802Asp	0					FBN1_ENST00000561429.1_5'UTR	p.G2802D	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		66	8860	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	1	1	hg19	c.8405G>A	CCDS32232.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775808	0.70107	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75615	2.305	0.80722	D	1	P	0.48834	0.916	P	0.48166	0.569	D	0.86549	0.1833	10	0.59425	D	0.04	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	2802	P35555	FBN1_HUMAN	D	2802	ENSP00000325527:G2802D	ENSP00000325527:G2802D	G	-	2	0	0	FBN1	46490690	46490690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.585000	0.82584	2.785000	0.95823	0.650000	0.86243	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-13.799590	1	0.170000				56	55		640	631	0		1	0		0	0	114	0		1	1	0	0	0	653	0	56	640
FBN1	2200	broad.mit.edu	37	15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	rs398122832|rs61746008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2726			R -> W (in MFS; defects in protein processing; dbSNP:rs61746008). {ECO:0000269|PubMed:7738200}.		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)			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)		TTCCTGCCCCGTTTGGGGTAG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19870	0.0		0.0	False		,,,				2504	0.0					ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139	GRCh37	CM950453	FBN1	M	rs61746008	c.(8176-8178)Cgg>Tgg		fibrillin 1		G	TRP/ARG	5,4391	11.4+/-27.6	0,5,2193	228.0	186.0	200.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8176	1.0	0.9	15	dbSNP_129	200	9,8583	7.1+/-27.0	0,9,4287	yes	missense	FBN1	NM_000138.4	101	0,14,6480	AA,AG,GG		0.1047,0.1137,0.1078	probably-damaging	2726/2872	48704816	14,12974	2198	4296	6494	SO:0001583	missense	2200	89	121412	55				g.chr15:48704816G>A	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.8176C>T	chr15.hg19:g.48704816G>A	ENSP00000325527:p.Arg2726Trp	0					FBN1_ENST00000561429.1_5'UTR	p.R2726W	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		65	8631	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	1	1	hg19	c.8176C>T	CCDS32232.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.306873	0.60305	0.001137	0.001047	ENSG00000166147	ENST00000316623	D	0.83591	-1.74	5.38	1.03	0.20045	5.38	1.03	0.20045	Growth factor, receptor (1);	0.104411	0.64402	D	0.000004	T	0.79275	0.4418	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.74785	-0.3547	10	0.87932	D	0	.	9.5746	0.39450	0.0692:0.0:0.3942:0.5366	.	2726	P35555	FBN1_HUMAN	W	2726	ENSP00000325527:R2726W	ENSP00000325527:R2726W	R	-	1	2	2	FBN1	46492108	46492108	1.000000	0.71417	0.888000	0.34837	0.873000	0.50193	2.367000	0.44213	0.348000	0.23949	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	164		164	161	1	2.060000	-2.981921	1	0.170000				155	152		598	588	1		1	0		0	0	164	0		1	1	0	1	0	575	0	155	598
FBN1	2200	broad.mit.edu	37	15	48718062	48718062	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						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.?(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)		TCATCGATATCTGTAATTTAA	0.313																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	139						c.e59-1		fibrillin 1							76.0	66.0	69.0					15																	48718062		2198	4295	6493	SO:0001630	splice_region_variant	2200	0	0					g.chr15:48718062C>A	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.7205-1G>T	chr15.hg19:g.48718062C>A		0							NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		59	7660	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	1	1	hg19		CCDS32232.1	1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525982	0.64860	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FBN1	46505354	46505354	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.008604	1	0.170000		Intron		29	29		153	148	1		1	0		0	0	42	0		1	2.732080e-02	0	0	0	2	0	29	153
FBN1	2200	broad.mit.edu	37	15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2324	EGF-like 40; 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)			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)		TTGGGGCTGGCGGTAAACCCA	0.542																																						ENST00000316623.5	1.000000	0.720000	1	8.900000e-01	0.990000	0.961139	0.990000	1.000000																										0				139						c.(6970-6972)Gcc>Acc		fibrillin 1		C	THR/ALA	0,4396		0,0,2198	129.0	92.0	105.0		6970	2.8	0.4	15	dbSNP_134	105	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	58	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	2324/2872	48720570	1,12987	2198	4296	6494	SO:0001583	missense	2200	1	121410	34				g.chr15:48720570C>T	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.6970G>A	chr15.hg19:g.48720570C>T	ENSP00000325527:p.Ala2324Thr	0						p.A2324T	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		57	7425	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	1	1	hg19	c.6970G>A	CCDS32232.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590464	0.28357	0.0	1.16E-4	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.91996	-2.95	5.76	2.81	0.32909	5.76	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202371	0.51477	D	0.000092	D	0.85017	0.5601	N	0.21448	0.665	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.75393	-0.3333	10	0.12766	T	0.61	.	16.8327	0.85949	0.0:0.6384:0.3616:0.0	.	2324	P35555	FBN1_HUMAN	T	2324;892	ENSP00000325527:A2324T	ENSP00000325527:A2324T	A	-	1	0	0	FBN1	46507862	46507862	0.078000	0.21339	0.390000	0.26220	0.652000	0.38707	0.390000	0.20768	0.335000	0.23614	0.555000	0.69702	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	41		41	42	1	2.060000	-2.966613	1	0.170000				23	23		223	217	0		1	0		0	0	41	0		9.999994e-01	1	0	1	0	501	0	23	223
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				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.R1539Q(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)		TCCTCGAGGTCGAATATCCAA	0.438																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1539Q(1)	large_intestine(1)	139						c.(4615-4617)cGa>cAa		fibrillin 1							107.0	105.0	106.0					15																	48760266		2198	4296	6494	SO:0001583	missense	2200	1	121412	36				g.chr15:48760266C>T	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.4616G>A	chr15.hg19:g.48760266C>T	ENSP00000325527:p.Arg1539Gln	0						p.R1539Q	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		38	5071	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	1	1	hg19	c.4616G>A	CCDS32232.1	1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	0	FBN1	46547558	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.402468	1	0.170000				82	82		347	343	1		1	0		0	0	89	0		1	1	0	0	0	442	0	82	347
FBN1	2200	broad.mit.edu	37	15	48779354	48779354	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1169	EGF-like 18; 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)			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)		TCACGCAACGGCCATTGGGGC	0.448																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				139						c.(3505-3507)ggC>ggT		fibrillin 1							80.0	71.0	74.0					15																	48779354		2198	4296	6494	SO:0001819	synonymous_variant	2200	0	0					g.chr15:48779354G>A	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.3507C>T	chr15.hg19:g.48779354G>A		0						p.G1169G	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		29	3962	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	1	1	hg19	c.3507C>T	CCDS32232.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000				37	37		192	186	1		1	0		0	0	51	0		1	1	0	0	0	326	0	37	192
FBN1	2200	broad.mit.edu	37	15	48787772	48787772	+	Silent	SNP	G	G	A	rs193921256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	811	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> Y (in MFS). {ECO:0000269|PubMed:21542060}.		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)			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)		GACTTGATTCGCATTCATCAA	0.383																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139	GRCh37	CM042037	FBN1	M		c.(2431-2433)tgC>tgT		fibrillin 1							168.0	182.0	178.0					15																	48787772		2197	4296	6493	SO:0001819	synonymous_variant	2200	0	0					g.chr15:48787772G>A	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.2433C>T	chr15.hg19:g.48787772G>A		0						p.C811C	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		21	2888	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	1	1	hg19	c.2433C>T	CCDS32232.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	196		196	195	1	2.060000	-20.000000	1	0.170000				138	136		730	719	1		1	0		0	0	196	0		1	1	0	0	0	311	0	138	730
FBN1	2200	broad.mit.edu	37	15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T	rs200388305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	344	TB 2.				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)			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)		GTTAGAGCAGCGCCCGTTTGT	0.517																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(1030-1032)cGc>cAc		fibrillin 1							79.0	68.0	72.0					15																	48812972		2197	4296	6493	SO:0001583	missense	2200	0	0					g.chr15:48812972C>T	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.1031G>A	chr15.hg19:g.48812972C>T	ENSP00000325527:p.Arg344His	0						p.R344H	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		10	1486	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	1	1	hg19	c.1031G>A	CCDS32232.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.569925	0.96540	.	.	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94643	0.7832	10	0.37606	T	0.19	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	344	P35555	FBN1_HUMAN	H	344	ENSP00000325527:R344H	ENSP00000325527:R344H	R	-	2	0	0	FBN1	46600264	46600264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.939000	0.56591	2.941000	0.99782	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				44	44		207	201	1		1	0		0	0	55	0		1	1	0	0	0	270	0	44	207
FBN1	2200	broad.mit.edu	37	15	48905247	48905247	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	69					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)			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)		TTTTCCATCCAGGGCAACAGT	0.383																																						ENST00000316623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(205-207)ccT>ccC		fibrillin 1							143.0	140.0	141.0					15																	48905247		2197	4296	6493	SO:0001819	synonymous_variant	2200	2	121270	35				g.chr15:48905247A>G	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.207T>C	chr15.hg19:g.48905247A>G		0						p.P69P	NM_000138.4	NP_000129	0	1	1	1.989262	P35555	FBN1_HUMAN		3	662	-		all_lung(180;0.00279)	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	1	1	hg19	c.207T>C	CCDS32232.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000				75	73		326	320	1		1	0		0	0	111	0		1	1	0	0	0	154	0	75	326
CEP152	22995	broad.mit.edu	37	15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1685					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373																																						ENST00000380950.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.997783	0.990000	1.000000																										0				63						c.(5053-5055)caG>caT		centrosomal protein 152kDa							124.0	116.0	119.0					15																	49030524		1875	4096	5971	SO:0001583	missense	22995	0	0					g.chr15:49030524C>A	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.5055G>T	chr15.hg19:g.49030524C>A	ENSP00000370337:p.Gln1685His	0					CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	p.Q1685H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		27	5242	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.5055G>T	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923478	0.73213	.	.	ENSG00000103995	ENST00000399334	T	0.54675	0.56	4.76	3.85	0.44370	4.76	3.85	0.44370	.	0.363112	0.20109	N	0.099049	T	0.41743	0.1172	L	0.27053	0.805	0.26648	N	0.972153	P	0.45827	0.867	P	0.44946	0.465	T	0.24119	-1.0169	10	0.46703	T	0.11	-0.917	8.8499	0.35192	0.0:0.7633:0.0:0.2367	.	1629	O94986	CE152_HUMAN	H	1629	ENSP00000382271:Q1629H	ENSP00000382271:Q1629H	Q	-	3	2	2	CEP152	46817816	46817816	0.014000	0.17966	0.403000	0.26384	0.717000	0.41224	0.208000	0.17415	1.231000	0.43661	0.563000	0.77884	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-16.265350	1	0.170000	NM_014985			42	42		332	330	1		1	1		0	0	68	0		1	2.756153e-01	0	2	0	7	0	42	332
CEP152	22995	broad.mit.edu	37	15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000399334.3_Missense_Mutation_p.A831D|CEP152_ENST00000325747.5_Missense_Mutation_p.A738D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	831					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2491-2493)gCc>gAc		centrosomal protein 152kDa							166.0	152.0	156.0					15																	49054658		1846	4087	5933	SO:0001583	missense	22995	0	0					g.chr15:49054658G>T	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.2492C>A	chr15.hg19:g.49054658G>T	ENSP00000370337:p.Ala831Asp	0					CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		18	2679	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.2492C>A	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256788	0.39896	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.69806	-0.43;-0.39;-0.36	5.18	4.27	0.50696	5.18	4.27	0.50696	.	0.173091	0.50627	D	0.000120	T	0.77903	0.4200	M	0.71581	2.175	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.71414	0.973;0.858;0.907	T	0.68655	-0.5351	10	0.48119	T	0.1	-2.873	10.953	0.47341	0.0867:0.0:0.9133:0.0	.	738;831;831	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	831;738;831	ENSP00000370337:A831D;ENSP00000321000:A738D;ENSP00000382271:A831D	ENSP00000321000:A738D	A	-	2	0	0	CEP152	46841950	46841950	0.008000	0.16893	0.008000	0.14137	0.349000	0.29174	1.461000	0.35255	1.562000	0.49601	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_014985			94	93		412	407	1		1	1		0	0	102	0		1	2.361060e-01	0	2	0	3	0	94	412
CEP152	22995	broad.mit.edu	37	15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N|CEP152_ENST00000325747.5_Missense_Mutation_p.D648N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	741					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2221-2223)Gat>Aat		centrosomal protein 152kDa							208.0	198.0	201.0					15																	49059316		1930	4128	6058	SO:0001583	missense	22995	0	0					g.chr15:49059316C>T	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.2221G>A	chr15.hg19:g.49059316C>T	ENSP00000370337:p.Asp741Asn	0					CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		17	2408	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.2221G>A	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.086811	0.94100	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.27;0.32;0.26	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.216802	0.45361	D	0.000361	T	0.76212	0.3956	M	0.77103	2.36	0.45076	D	0.998092	P;D;D	0.89917	0.925;1.0;0.992	P;D;P	0.68943	0.691;0.961;0.891	T	0.77456	-0.2581	10	0.54805	T	0.06	-16.5704	17.4356	0.87550	0.0:1.0:0.0:0.0	.	648;741;741	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	741;648;741	ENSP00000370337:D741N;ENSP00000321000:D648N;ENSP00000382271:D741N	ENSP00000321000:D648N	D	-	1	0	0	CEP152	46846608	46846608	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	5.358000	0.66064	2.716000	0.92895	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_014985			165	161		688	679	1		1	1		0	0	143	0		1	6.586200e-01	0	2	0	9	0	165	688
CEP152	22995	broad.mit.edu	37	15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	573					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1717-1719)Gac>Tac		centrosomal protein 152kDa							162.0	147.0	152.0					15																	49064749		1878	4119	5997	SO:0001583	missense	22995	0	0					g.chr15:49064749C>A	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.1717G>T	chr15.hg19:g.49064749C>A	ENSP00000370337:p.Asp573Tyr	0					CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		13	1904	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.1717G>T	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567788	0.86439	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.78	2.74	0.32292	5.78	2.74	0.32292	.	1.094050	0.06685	N	0.768702	D	0.84906	0.5576	M	0.62723	1.935	0.09310	N	0.999993	D;D;D	0.63880	0.993;0.974;0.988	P;P;P	0.58873	0.847;0.8;0.847	T	0.68387	-0.5422	10	0.72032	D	0.01	-2.1459	5.1919	0.15214	0.1455:0.6256:0.0:0.2288	.	480;573;573	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	573;480;573;573	ENSP00000370337:D573Y;ENSP00000321000:D480Y;ENSP00000382271:D573Y	ENSP00000321000:D480Y	D	-	1	0	0	CEP152	46852041	46852041	0.996000	0.38824	0.389000	0.26208	0.996000	0.88848	0.620000	0.24403	0.919000	0.36945	0.591000	0.81541	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	0		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_014985			80	77		420	413	1		1	1		0	0	102	0		1	3.782642e-01	0	4	0	4	0	80	420
CEP152	22995	broad.mit.edu	37	15	49064762	49064762	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.Q568Q|CEP152_ENST00000325747.5_Silent_p.Q475Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	568					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1702-1704)caA>caG		centrosomal protein 152kDa							167.0	152.0	157.0					15																	49064762		1899	4126	6025	SO:0001819	synonymous_variant	22995	0	0					g.chr15:49064762T>C	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.1704A>G	chr15.hg19:g.49064762T>C		0					CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.Q568Q	p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		13	1891	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	1	1	hg19	c.1704A>G	CCDS58361.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	0		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_014985			82	81		437	431	1		1	1		0	0	105	0		1	3.096284e-01	0	2	0	5	0	82	437
CEP152	22995	broad.mit.edu	37	15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	561					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1681-1683)cGt>cAt		centrosomal protein 152kDa							174.0	158.0	163.0					15																	49064784		1913	4135	6048	SO:0001583	missense	22995	1	120846	31				g.chr15:49064784C>T	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.1682G>A	chr15.hg19:g.49064784C>T	ENSP00000370337:p.Arg561His	0					CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		13	1869	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.1682G>A	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.052836	0.93793	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84070	-1.8;-1.8;-1.8	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.054450	0.64402	D	0.000001	D	0.90950	0.7155	M	0.76002	2.32	0.45515	D	0.998477	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.988;0.999	D	0.90165	0.4231	10	0.49607	T	0.09	-7.1829	18.1631	0.89716	0.0:1.0:0.0:0.0	.	468;561;561	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	561;468;561;561	ENSP00000370337:R561H;ENSP00000321000:R468H;ENSP00000382271:R561H	ENSP00000321000:R468H	R	-	2	0	0	CEP152	46852076	46852076	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	0		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_014985			78	77		452	446	1		1	1		0	0	109	0		1	3.946977e-01	0	2	0	7	0	78	452
CEP152	22995	broad.mit.edu	37	15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C	rs181295720	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.I301V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	394					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAGAGCAAATGTCTTCCTAA	0.294													T|||	6	0.00119808	0.0	0.0	5008	,	,		14863	0.0		0.005	False		,,,				2504	0.001					ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1180-1182)Att>Gtt		centrosomal protein 152kDa		T	VAL/ILE,VAL/ILE	5,3649		0,5,1822	76.0	68.0	71.0		1180,1180	-1.8	0.1	15		71	26,8116		0,26,4045	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,31,5867	CC,CT,TT		0.3193,0.1368,0.2628	benign,benign	394/1711,394/1655	49076311	31,11765	1827	4071	5898	SO:0001583	missense	22995	267	120764	54				g.chr15:49076311T>C	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.1180A>G	chr15.hg19:g.49076311T>C	ENSP00000370337:p.Ile394Val	0					CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|RP11-485O10.2_ENST00000558304.1_RNA	p.I394V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		10	1367	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	0	hg19	c.1180A>G	CCDS58361.1	1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	1.159	-0.644461	0.03531	0.001368	0.003193	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77877	-1.13;-1.13;-1.13	5.35	-1.79	0.07932	5.35	-1.79	0.07932	.	0.475067	0.22648	N	0.057372	T	0.51584	0.1683	L	0.35288	1.05	0.19945	N	0.999949	B;B;B	0.16603	0.001;0.007;0.018	B;B;B	0.12156	0.001;0.007;0.005	T	0.38436	-0.9661	10	0.02654	T	1	-3.6909	0.3026	0.00275	0.2147:0.2372:0.202:0.346	.	301;394;394	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	394;301;394;394	ENSP00000370337:I394V;ENSP00000321000:I301V;ENSP00000382271:I394V	ENSP00000321000:I301V	I	-	1	0	0	CEP152	46863603	46863603	0.004000	0.15560	0.083000	0.20561	0.157000	0.22087	-0.235000	0.09016	-0.233000	0.09797	-1.216000	0.01612	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	0	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-2.365132	0	0.170000	NM_014985			34	33		117	114	1		1	1		0	0	27	0		1	6.387044e-01	0	2	0	7	0	34	117
CEP152	22995	broad.mit.edu	37	15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000399334.3_Missense_Mutation_p.D345N|CEP152_ENST00000325747.5_Missense_Mutation_p.D252N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	345					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1033-1035)Gac>Aac		centrosomal protein 152kDa							165.0	152.0	156.0					15																	49081138		1941	4143	6084	SO:0001583	missense	22995	0	0					g.chr15:49081138C>T	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.1033G>A	chr15.hg19:g.49081138C>T	ENSP00000370337:p.Asp345Asn	0					CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		9	1220	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	1	1	hg19	c.1033G>A	CCDS58361.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226869	0.79576	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80304	-1.36;-1.36;-1.36	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.240671	0.48286	D	0.000186	D	0.86176	0.5870	L	0.45581	1.43	0.43782	D	0.99631	D;D;D	0.69078	0.977;0.997;0.976	P;P;P	0.59357	0.787;0.856;0.724	D	0.86157	0.1591	10	0.72032	D	0.01	-14.6367	20.5568	0.99304	0.0:1.0:0.0:0.0	.	252;345;345	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	345;252;345;345	ENSP00000370337:D345N;ENSP00000321000:D252N;ENSP00000382271:D345N	ENSP00000321000:D252N	D	-	1	0	0	CEP152	46868430	46868430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.306000	0.72810	2.861000	0.98227	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	NM_014985			112	110		574	562	1		1	0		0	0	126	0		1	2.717538e-02	0	1	0	1	0	112	574
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000380950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.E69E(1)	large_intestine(1)	63						c.(205-207)gaG>gaA		centrosomal protein 152kDa							170.0	154.0	159.0					15																	49089912		1939	4136	6075	SO:0001819	synonymous_variant	22995	0	0					g.chr15:49089912C>T	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	chr15.hg19:g.49089912C>T		0					CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	0	1	1	1.989262	O94986	CE152_HUMAN		4	394	-		all_lung(180;0.0428)	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	1	1	hg19	c.207G>A	CCDS58361.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_014985			96	95		413	401	1		1	0		0	0	90	0		1	3.633348e-02	0	1	0	1	0	96	413
SHC4	399694	broad.mit.edu	37	15	49135605	49135605	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000537958.1_Splice_Site|SHC4_ENST00000396535.3_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458																																						ENST00000332408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.e10+1		SHC (Src homology 2 domain containing) family, member 4							143.0	142.0	142.0					15																	49135605		2197	4295	6492	SO:0001630	splice_region_variant	399694	1	121412	32				g.chr15:49135605C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1483+1G>A	chr15.hg19:g.49135605C>T		0					SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site		NM_203349.3	NP_976224.3	0	1	1	1.989262	Q6S5L8	SHC4_HUMAN		10	1912	-		all_lung(180;0.00466)	Q6UXQ3|Q8IYW3	Splice_Site	SNP	ENST00000332408.4	1	1	hg19		CCDS10130.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712436	0.68730	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6164	0.76769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SHC4	46922897	46922897	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	4.674000	0.61612	2.591000	0.87537	0.650000	0.86243	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	1	0	1		2	2	2	0		0	0	172		172	172	1	2.060000	-20.000000	1	0.170000	NM_203349	Intron		143	142		727	717	1		1			0	0	172	0		1	0	0	0	0	0	0	143	727
SECISBP2L	9728	broad.mit.edu	37	15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	Y_RNA_ENST00000384377.1_RNA|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	828							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCAGCCTGCTCCTGTTCCA	0.428																																						ENST00000559471.1	0.390000	0.190000	3.400000e-01	2.300000e-01	0.280000	0.290918	0.280000	0.280000																										0				46						c.(2482-2484)gaG>gaT		SECIS binding protein 2-like							261.0	241.0	247.0					15																	49288703		2197	4295	6492	SO:0001583	missense	9728	0	0					g.chr15:49288703C>A	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.2484G>T	chr15.hg19:g.49288703C>A	ENSP00000453854:p.Glu828Asp	0					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D|Y_RNA_ENST00000384377.1_RNA	p.E828D	NM_001193489.1	NP_001180418.1	0	1	1	1.989262	Q93073	SBP2L_HUMAN		17	2747	-			Q8N767	Missense_Mutation	SNP	ENST00000559471.1	1	1	hg19	c.2484G>T	CCDS53942.1	0	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820874	0.71028	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	0.893	0.19236	4.94	0.893	0.19236	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	L	0.29908	0.895	0.39808	D	0.972668	D;D	0.71674	0.996;0.998	P;D	0.63488	0.824;0.915	D	0.89300	0.3625	10	0.72032	D	0.01	.	9.1906	0.37197	0.0:0.5318:0.0:0.4682	.	828;783	Q93073;Q93073-2	SBP2L_HUMAN;.	D	783;828	ENSP00000261847:E783D	ENSP00000261847:E783D	E	-	3	2	2	SECISBP2L	47075995	47075995	0.989000	0.36119	0.999000	0.59377	0.992000	0.81027	0.302000	0.19192	0.288000	0.22398	0.650000	0.86243	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	0	0	1		2	2	2	0		0	0	245		245	244	1	2.060000	-3.028088	1	0.170000	NM_014701			29	29		1172	1152	0		1	0		0	0	245	0		1	7.080109e-01	0	1	0	99	0	29	1172
SECISBP2L	9728	broad.mit.edu	37	15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	495							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343																																						ENST00000559471.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1483-1485)Atg>Gtg		SECIS binding protein 2-like							176.0	156.0	163.0					15																	49308835		2197	4295	6492	SO:0001583	missense	9728	0	0					g.chr15:49308835T>C	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.1483A>G	chr15.hg19:g.49308835T>C	ENSP00000453854:p.Met495Val	0					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	p.M495V	NM_001193489.1	NP_001180418.1	0	1	1	1.989262	Q93073	SBP2L_HUMAN		11	1746	-			Q8N767	Missense_Mutation	SNP	ENST00000559471.1	1	1	hg19	c.1483A>G	CCDS53942.1	1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386745	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76186	-1.0	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.72118	2.19	0.54753	D	0.999981	D;D	0.61697	0.983;0.99	P;D	0.72982	0.708;0.979	D	0.84915	0.0850	10	0.44086	T	0.13	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	495;450	Q93073;Q93073-2	SBP2L_HUMAN;.	V	450;495	ENSP00000261847:M450V	ENSP00000261847:M450V	M	-	1	0	0	SECISBP2L	47096127	47096127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.222000	0.72286	0.528000	0.53228	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_014701			59	59		272	267	1		1	1		0	0	61	0		1	9.999919e-01	0	12	0	70	0	59	272
SECISBP2L	9728	broad.mit.edu	37	15	49320695	49320695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	283							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448																																						ENST00000559471.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(847-849)caG>caA		SECIS binding protein 2-like							142.0	120.0	127.0					15																	49320695		2197	4295	6492	SO:0001819	synonymous_variant	9728	0	0					g.chr15:49320695C>T	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.849G>A	chr15.hg19:g.49320695C>T		0					SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	p.Q283Q	NM_001193489.1	NP_001180418.1	0	1	1	1.989262	Q93073	SBP2L_HUMAN		5	1112	-			Q8N767	Silent	SNP	ENST00000559471.1	1	1	hg19	c.849G>A	CCDS53942.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_014701			95	93		402	398	1		1	1		0	0	93	0		1	9.999942e-01	0	21	0	54	0	95	402
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W|Y_RNA_ENST00000363250.1_RNA	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5	1.000000	0.560000	9.800000e-01	6.800000e-01	0.820000	0.826663	0.820000	1.000000																										0				18						c.(298-300)Cgg>Tgg		COP9 signalosome subunit 2							74.0	79.0	77.0					15																	49431799		2196	4288	6484	SO:0001583	missense	9318	1	121394	30				g.chr15:49431799G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.298C>T	chr15.hg19:g.49431799G>A	ENSP00000373553:p.Arg100Trp	0					COPS2_ENST00000542928.1_Missense_Mutation_p.R36W|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W	p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	0	1	1	1.989262	P61201	CSN2_HUMAN		4	371	-		all_lung(180;0.0428)	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	1	1	hg19	c.298C>T	CCDS32235.1	0	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372939	0.82573	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	3.59	0.41128	5.48	3.59	0.41128	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.54629	0.757;0.757;0.757	T	0.66995	-0.5782	9	0.87932	D	0	-25.2134	12.3137	0.54944	0.139:0.0:0.861:0.0	.	36;101;100	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	W	100;100;36	.	ENSP00000299259:R100W	R	-	1	2	2	COPS2	47219091	47219091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	1.317000	0.45149	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.318775	1	0.170000	NM_004236			29	29		383	377	1		1	1		0	0	124	0		1	9.999877e-01	0	24	0	209	0	29	383
ATP8B4	79895	broad.mit.edu	37	15	50209130	50209130	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4							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)			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)		tcAACACCTACCTGAGTTCTT	0.453																																						ENST00000284509.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.e20+1		ATPase, class I, type 8B, member 4							271.0	223.0	239.0					15																	50209130		2196	4295	6491	SO:0001630	splice_region_variant	79895	0	0					g.chr15:50209130C>A	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.2141+1G>T	chr15.hg19:g.50209130C>A		0					ATP8B4_ENST00000559829.1_Splice_Site		NM_024837.2	NP_079113.2	0	1	1	1.989262	Q8TF62	AT8B4_HUMAN		20	2283	-		all_lung(180;0.00183)	Q9H727	Splice_Site	SNP	ENST00000284509.6	1	1	hg19		CCDS32238.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077341	0.76415	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ATP8B4	47996422	47996422	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.137000	0.77295	2.600000	0.87896	0.655000	0.94253	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_024837	Intron		62	60		248	238	0		1			0	0	71	0		1	0	0	0	0	0	0	62	248
ATP8B4	79895	broad.mit.edu	37	15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H|ATP8B4_ENST00000558959.1_5'Flank	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	32						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)			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)		TGTGTGGATACGATTATCCTG	0.373																																						ENST00000284509.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(94-96)cGt>cAt		ATPase, class I, type 8B, member 4							92.0	94.0	94.0					15																	50339654		2196	4295	6491	SO:0001583	missense	79895	6	121410	37				g.chr15:50339654C>T	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.95G>A	chr15.hg19:g.50339654C>T	ENSP00000284509:p.Arg32His	0					ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	p.R32H	NM_024837.2	NP_079113.2	0	1	1	1.989262	Q8TF62	AT8B4_HUMAN		4	236	-		all_lung(180;0.00183)	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	1	1	hg19	c.95G>A	CCDS32238.1	1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056893	0.36277	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.233701	0.36519	N	0.002553	T	0.66046	0.2750	N	0.26042	0.785	0.39911	D	0.97403	B	0.15719	0.014	B	0.11329	0.006	T	0.61806	-0.6987	10	0.11485	T	0.65	.	16.8191	0.85741	0.0:1.0:0.0:0.0	.	32	Q8TF62	AT8B4_HUMAN	H	32	ENSP00000284509:R32H	ENSP00000284509:R32H	R	-	2	0	0	ATP8B4	48126946	48126946	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	2.569000	0.86673	0.591000	0.81541	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-16.102950	1	0.170000	NM_024837			98	96		145	141	1		1	0		0	0	44	0		1	7.698683e-01	0	0	0	6	0	98	145
HDC	3067	broad.mit.edu	37	15	50534865	50534865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	HDC_ENST00000543581.1_Silent_p.Q494Q|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				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)		CTCCCACACGCTGAGGCTGCT	0.577																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1579-1581)caG>caA		histidine decarboxylase							58.0	57.0	57.0					15																	50534865		2196	4295	6491	SO:0001819	synonymous_variant	3067	0	0					g.chr15:50534865C>T		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.1581G>A	chr15.hg19:g.50534865C>T		0					HDC_ENST00000543581.1_Silent_p.Q494Q|RN7SL494P_ENST00000461517.2_RNA	p.Q527Q	NM_002112.3	NP_002103.2	0	1	1	1.989262	Q9UBI9	HDC_HUMAN		12	1983	-		all_lung(180;0.0138)		Silent	SNP	ENST00000267845.3	1	1	hg19	c.1581G>A	CCDS10134.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				64	64		241	239	1		1	0		0	0	62	0		1	2.874030e-01	0	0	0	5	0	64	241
HDC	3067	broad.mit.edu	37	15	50546817	50546817	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50546817C>T	ENST00000267845.3	-	5	888	c.486G>A	c.(484-486)agG>agA	p.R162R	HDC_ENST00000543581.1_Silent_p.R162R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				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)		TTTTGTTCTTCCTTGCTGCCA	0.507																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3	0.660000	0.180000	5.200000e-01	2.700000e-01	0.380000	0.403786	0.380000	0.360000																										0				50						c.(484-486)agG>agA		histidine decarboxylase							97.0	89.0	92.0					15																	50546817		2196	4295	6491	SO:0001819	synonymous_variant	3067	0	0					g.chr15:50546817C>T		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.486G>A	chr15.hg19:g.50546817C>T		0					HDC_ENST00000543581.1_Silent_p.R162R	p.R162R	NM_002112.3	NP_002103.2	0	1	1	1.989262	Q9UBI9	HDC_HUMAN		5	888	-		all_lung(180;0.0138)		Silent	SNP	ENST00000267845.3	1	1	hg19	c.486G>A	CCDS10134.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.165183	1	0.170000				9	8		274	266	0		1	0		0	0	62	0		9.935365e-01	1.340123e-03	0	0	0	2	0	9	274
GABPB1	2553	broad.mit.edu	37	15	50592987	50592987	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000220429.8	-	6	900	c.732A>G	c.(730-732)ccA>ccG	p.P244P	GABPB1_ENST00000396464.3_Splice_Site_p.P232P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000380877.3_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000560825.1_Splice_Site_p.P232P			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					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)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTTTCTAACCTGGAGTTTCTG	0.453																																						ENST00000220429.8	0.650000	0.200000	5.200000e-01	2.800000e-01	0.390000	0.410243	0.390000	0.370000																										0				14						c.(730-732)ccA>ccG		GA binding protein transcription factor, beta subunit 1							80.0	77.0	78.0					15																	50592987		2196	4295	6491	SO:0001630	splice_region_variant	2553	0	0					g.chr15:50592987T>C	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.733+1A>G	chr15.hg19:g.50592987T>C		0					GABPB1_ENST00000560825.1_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000380877.3_Splice_Site_p.P232P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000396464.3_Splice_Site_p.P232P	p.P244P			0	1	1	1.989262	Q06547	GABP1_HUMAN		6	900	-			A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Splice_Site	SNP	ENST00000220429.8	0	1	hg19	c.732A>G	CCDS32239.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-10.951970	1	0.170000		Silent		10	9		297	290	0		1	1		0	0	37	0		9.965782e-01	8.711735e-01	0	8	0	103	0	10	297
USP8	9101	broad.mit.edu	37	15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000396444.3	+	14	2563	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	742					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)			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)		ACAGTTAATCGGGAAAACAAG	0.403																																						ENST00000396444.3	1.000000	0.790000	1	9.200000e-01	0.990000	0.973200	0.990000	1.000000																										0				35						c.(2224-2226)cGg>cAg		ubiquitin specific peptidase 8							95.0	96.0	96.0					15																	50782713		2196	4294	6490	SO:0001583	missense	9101	0	0					g.chr15:50782713G>A	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.2225G>A	chr15.hg19:g.50782713G>A	ENSP00000379721:p.Arg742Gln	0					USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	p.R742Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	0	1	1	1.989262	P40818	UBP8_HUMAN		14	2563	+			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	1	1	hg19	c.2225G>A	CCDS10137.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236592	0.79800	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19669	2.13;2.13;2.13;2.15	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.650366	0.16020	N	0.233361	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D;P	0.60575	0.988;0.947	P;P	0.55260	0.752;0.772	T	0.02751	-1.1115	10	0.59425	D	0.04	-14.7141	19.9733	0.97292	0.0:0.0:1.0:0.0	.	636;742	B4DKA8;P40818	.;UBP8_HUMAN	Q	742;742;742;636	ENSP00000379721:R742Q;ENSP00000405537:R742Q;ENSP00000302239:R742Q;ENSP00000412682:R636Q	ENSP00000302239:R742Q	R	+	2	0	0	USP8	48570005	48570005	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.169000	0.94788	2.790000	0.95986	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	0	0	1		13	7	2	1		1	1	123		123	121	1	2.060000	-2.376785	0	0.170000	NM_005154			40	39		392	384	0		1	1		1	0	123	0		9.999649e-01	9.901882e-01	0	19	0	147	0	40	392
USP8	9101	broad.mit.edu	37	15	50786282	50786282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000396444.3	+	16	2801	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	USP8_ENST00000307179.4_Silent_p.G821G|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.G715G|USP8_ENST00000433963.1_Silent_p.G821G	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	821	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)			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)		ATTTGTTGGGGCATAAAGGTG	0.348																																						ENST00000396444.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.997392	0.990000	1.000000																										0				35						c.(2461-2463)ggG>ggA		ubiquitin specific peptidase 8							95.0	92.0	93.0					15																	50786282		2196	4294	6490	SO:0001819	synonymous_variant	9101	0	0					g.chr15:50786282G>A	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.2463G>A	chr15.hg19:g.50786282G>A		0					USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000433963.1_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	p.G821G	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	0	1	1	1.989262	P40818	UBP8_HUMAN		16	2801	+			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	1	1	hg19	c.2463G>A	CCDS10137.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.142705	1	0.170000	NM_005154			40	40		317	307	1		1	1		0	0	74	0		1	9.996903e-01	0	12	0	86	0	40	317
USP8	9101	broad.mit.edu	37	15	50788095	50788095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000396444.3	+	17	3047	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	USP8_ENST00000307179.4_Silent_p.D903D|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.D797D|USP8_ENST00000433963.1_Silent_p.D903D|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	903	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)			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)		ATCTCGATGACTTTAAAGCTG	0.343																																						ENST00000396444.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(2707-2709)gaC>gaT		ubiquitin specific peptidase 8							42.0	38.0	40.0					15																	50788095		2196	4285	6481	SO:0001819	synonymous_variant	9101	0	0					g.chr15:50788095C>T	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.2709C>T	chr15.hg19:g.50788095C>T		0					USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000433963.1_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA	p.D903D	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	0	1	1	1.989262	P40818	UBP8_HUMAN		17	3047	+			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	1	1	hg19	c.2709C>T	CCDS10137.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_005154			45	45		227	226	1		1	1		0	0	47	0		1	9.999995e-01	0	34	0	81	0	45	227
USP50	373509	broad.mit.edu	37	15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A	rs557823387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	286	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388																																						ENST00000532404.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(841-843)aCg>aTg		ubiquitin specific peptidase 50							207.0	185.0	192.0					15																	50822088		1832	4090	5922	SO:0001583	missense	373509	3	120808	40				g.chr15:50822088G>A	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.842C>T	chr15.hg19:g.50822088G>A	ENSP00000434676:p.Thr281Met	0					USP50_ENST00000530218.1_5'UTR	p.T281M	NM_203494.4	NP_987090.2	0	1	1	1.989262	Q70EL3	UBP50_HUMAN		6	1015	-			E9PP86	Missense_Mutation	SNP	ENST00000532404.1	1	1	hg19	c.842C>T	CCDS53944.1	1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194840	0.58017	.	.	ENSG00000170236	ENST00000532404	T	0.32753	1.44	5.66	4.75	0.60458	5.66	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.194190	0.43416	D	0.000575	T	0.54515	0.1863	M	0.81497	2.545	0.34114	D	0.663346	D	0.89917	1.0	D	0.69824	0.966	T	0.70676	-0.4806	10	0.72032	D	0.01	-8.1603	10.7927	0.46443	0.0878:0.0:0.9122:0.0	.	286	Q70EL3	UBP50_HUMAN	M	281	ENSP00000434676:T281M	ENSP00000434676:T281M	T	-	2	0	0	USP50	48609380	48609380	0.999000	0.42202	0.872000	0.34217	0.840000	0.47671	4.049000	0.57397	1.406000	0.46857	-0.143000	0.13931	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000				70	69		312	306	1		1	1		0	0	97	0		1	3.439876e-02	0	2	0	0	0	70	312
TRPM7	54822	broad.mit.edu	37	15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	839					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)			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)		CGTAATTGGAAGCTTTTTTGA	0.274																																						ENST00000313478.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				52						c.(2515-2517)cTt>cGt		transient receptor potential cation channel, subfamily M, member 7							188.0	174.0	178.0					15																	50901842		1818	4068	5886	SO:0001583	missense	54822	0	0					g.chr15:50901842A>C	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.2516T>G	chr15.hg19:g.50901842A>C	ENSP00000320239:p.Leu839Arg	0					TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	p.L839R	NM_017672.4	NP_060142.3	0	1	1	1.989262	Q96QT4	TRPM7_HUMAN		19	2797	-			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	1	1	hg19	c.2516T>G	CCDS42035.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366274	0.82463	.	.	ENSG00000092439	ENST00000313478	T	0.81415	-1.49	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.90256	0.4297	10	0.87932	D	0	-19.001	15.7606	0.78076	1.0:0.0:0.0:0.0	.	839	Q96QT4	TRPM7_HUMAN	R	839	ENSP00000320239:L839R	ENSP00000320239:L839R	L	-	2	0	0	TRPM7	48689134	48689134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.497000	0.81536	2.137000	0.66172	0.383000	0.25322	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.999060	1	0.170000	NM_017672			42	42		204	201	1		1	1		0	0	55	0		1	9.999636e-01	0	23	0	55	0	42	204
TRPM7	54822	broad.mit.edu	37	15	50911964	50911964	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50911964T>G	ENST00000313478.7	-	13	1753	c.1472A>C	c.(1471-1473)cAt>cCt	p.H491P	TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	491					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)			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)		TCGAACAAGATGAAACAGCAT	0.254																																						ENST00000313478.7	0.700000	0.150000	5.400000e-01	2.400000e-01	0.370000	0.399622	0.370000	0.340000																										0				52						c.(1471-1473)cAt>cCt		transient receptor potential cation channel, subfamily M, member 7							58.0	54.0	55.0					15																	50911964		1787	4058	5845	SO:0001583	missense	54822	1	120764	26				g.chr15:50911964T>G	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.1472A>C	chr15.hg19:g.50911964T>G	ENSP00000320239:p.His491Pro	0					TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	p.H491P	NM_017672.4	NP_060142.3	0	1	1	1.989262	Q96QT4	TRPM7_HUMAN		13	1753	-			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	0	1	hg19	c.1472A>C	CCDS42035.1	0	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865604	0.71949	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	4.11	4.11	0.48088	4.11	4.11	0.48088	.	0.170164	0.52532	D	0.000077	T	0.59797	0.2220	L	0.58583	1.82	0.52099	D	0.999947	D	0.67145	0.996	P	0.53649	0.731	T	0.65627	-0.6122	10	0.87932	D	0	-15.5063	12.7744	0.57439	0.0:0.0:0.0:1.0	.	491	Q96QT4	TRPM7_HUMAN	P	491	ENSP00000320239:H491P	ENSP00000320239:H491P	H	-	2	0	0	TRPM7	48699256	48699256	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.443000	0.80521	1.867000	0.54127	0.456000	0.33151	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.254	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-8.340914	1	0.170000	NM_017672			6	6		192	190	0		1	1		0	0	32	0		9.645715e-01	6.549102e-01	0	3	0	66	0	6	192
AP4E1	23431	broad.mit.edu	37	15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	77					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		TCAGAAAATGATGAAGGAATG	0.303																																						ENST00000261842.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(229-231)Atg>Ttg		adaptor-related protein complex 4, epsilon 1 subunit							117.0	121.0	119.0					15																	51207651		2195	4292	6487	SO:0001583	missense	23431	0	0					g.chr15:51207651A>T	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.229A>T	chr15.hg19:g.51207651A>T	ENSP00000261842:p.Met77Leu	0					AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	p.M77L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	0	1	1	1.989262	Q9UPM8	AP4E1_HUMAN		3	335	+			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	1	1	hg19	c.229A>T	CCDS32240.1	1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885118	0.51908	.	.	ENSG00000081014	ENST00000261842	T	0.24908	1.83	5.58	5.58	0.84498	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042722	0.85682	N	0.000000	T	0.21427	0.0516	L	0.31578	0.945	0.53005	D	0.999962	B;B	0.16603	0.0;0.018	B;B	0.19666	0.001;0.026	T	0.03000	-1.1084	10	0.33940	T	0.23	-11.7069	14.9133	0.70776	1.0:0.0:0.0:0.0	.	77;77	B4DM48;Q9UPM8	.;AP4E1_HUMAN	L	77	ENSP00000261842:M77L	ENSP00000261842:M77L	M	+	1	0	0	AP4E1	48994943	48994943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.727000	0.91480	2.252000	0.74401	0.529000	0.55759	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				60	58		288	286	1		1	1		0	0	54	0		1	4.807873e-01	0	2	0	7	0	60	288
AP4E1	23431	broad.mit.edu	37	15	51223034	51223034	+	Silent	SNP	G	G	A	rs146147470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	245					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		ACTTGACTGGGAGTTTTGTAA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0					ENST00000261842.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(733-735)ggG>ggA		adaptor-related protein complex 4, epsilon 1 subunit		G		7,4385	12.9+/-30.5	0,7,2189	92.0	94.0	93.0		735	0.4	1.0	15	dbSNP_134	93	0,8588		0,0,4294	no	coding-synonymous	AP4E1	NM_007347.3		0,7,6483	AA,AG,GG		0.0,0.1594,0.0539		245/1138	51223034	7,12973	2196	4294	6490	SO:0001819	synonymous_variant	23431	13	121412	44				g.chr15:51223034G>A	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.735G>A	chr15.hg19:g.51223034G>A		0					AP4E1_ENST00000560508.1_Silent_p.G170G	p.G245G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	0	1	1	1.989262	Q9UPM8	AP4E1_HUMAN		7	841	+			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	1	1	hg19	c.735G>A	CCDS32240.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.082654	1	0.170000				83	83		429	412	1		1	1		0	0	91	0		1	6.042578e-01	0	2	0	10	0	83	429
AP4E1	23431	broad.mit.edu	37	15	51289963	51289963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000261842.5	+	18	2893	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	929					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		CTATATCAGTGTCTTCTTATA	0.323																																						ENST00000261842.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2785-2787)gtG>gtA		adaptor-related protein complex 4, epsilon 1 subunit							56.0	62.0	60.0					15																	51289963		2196	4294	6490	SO:0001819	synonymous_variant	23431	0	0					g.chr15:51289963G>A	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.2787G>A	chr15.hg19:g.51289963G>A		0					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	p.V929V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	0	1	1	1.989262	Q9UPM8	AP4E1_HUMAN		18	2893	+			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	1	1	hg19	c.2787G>A	CCDS32240.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				53	52		258	256	1		1	1		0	0	42	0		1	6.779772e-01	0	6	0	7	0	53	258
AP4E1	23431	broad.mit.edu	37	15	51293263	51293263	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293263T>C	ENST00000261842.5	+	20	3242	c.3136T>C	c.(3136-3138)Tta>Cta	p.L1046L	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1046					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		GAAACTCTGGTTATCCTTCGC	0.328																																						ENST00000261842.5	0.620000	0.210000	5.100000e-01	2.900000e-01	0.390000	0.405871	0.390000	0.390000																										0				27						c.(3136-3138)Tta>Cta		adaptor-related protein complex 4, epsilon 1 subunit							99.0	102.0	101.0					15																	51293263		2196	4294	6490	SO:0001819	synonymous_variant	23431	0	0					g.chr15:51293263T>C	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.3136T>C	chr15.hg19:g.51293263T>C		0					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	p.L1046L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	0	1	1	1.989262	Q9UPM8	AP4E1_HUMAN		20	3242	+			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	1	1	hg19	c.3136T>C	CCDS32240.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.826830	1	0.170000				13	13		384	377	0		1	0		0	0	96	0		9.994953e-01	1.572260e-01	0	0	0	20	0	13	384
AP4E1	23431	broad.mit.edu	37	15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000261842.5	+	20	3352	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1082					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		ATATTATTGAGATTATAGGTT	0.328																																						ENST00000261842.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(3244-3246)gaG>gaT		adaptor-related protein complex 4, epsilon 1 subunit							77.0	80.0	79.0					15																	51293373		2196	4294	6490	SO:0001583	missense	23431	0	0					g.chr15:51293373G>T	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.3246G>T	chr15.hg19:g.51293373G>T	ENSP00000261842:p.Glu1082Asp	0					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	p.E1082D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	0	1	1	1.989262	Q9UPM8	AP4E1_HUMAN		20	3352	+			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	1	1	hg19	c.3246G>T	CCDS32240.1	1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541238	0.00934	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	4.93	-3.71	0.04424	4.93	-3.71	0.04424	Coatomer, beta subunit, C-terminal (1);	0.312135	0.35615	N	0.003083	T	0.03651	0.0104	N	0.04203	-0.255	0.27938	N	0.937604	B	0.02656	0.0	B	0.08055	0.003	T	0.32824	-0.9892	10	0.02654	T	1	-3.3318	1.2787	0.02036	0.47:0.1469:0.1173:0.2658	.	1082	Q9UPM8	AP4E1_HUMAN	D	1082	ENSP00000261842:E1082D	ENSP00000261842:E1082D	E	+	3	2	2	AP4E1	49080665	49080665	0.066000	0.20996	0.442000	0.26870	0.102000	0.19082	-0.350000	0.07721	-0.513000	0.06496	-1.204000	0.01649	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				55	52		235	230	1		1	1		0	0	75	0		1	8.336198e-01	0	4	0	12	0	55	235
TNFAIP8L3	388121	broad.mit.edu	37	15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	162										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)		ATCTTGTGGGCTTCCTTCTTG	0.458																																						ENST00000327536.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(484-486)Gcc>Tcc		tumor necrosis factor, alpha-induced protein 8-like 3							334.0	269.0	291.0					15																	51350473		2196	4293	6489	SO:0001583	missense	388121	0	0					g.chr15:51350473C>A	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.484G>T	chr15.hg19:g.51350473C>A	ENSP00000328016:p.Ala162Ser	0					RP11-108K3.1_ENST00000559909.1_lincRNA	p.A162S	NM_207381.2	NP_997264.2	0	1	1	1.989262	Q5GJ75	TP8L3_HUMAN		3	583	-			Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	1	1	hg19	c.484G>T	CCDS32241.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813604	0.90790	.	.	ENSG00000183578	ENST00000327536	T	0.38722	1.12	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62618	-0.6816	10	0.54805	T	0.06	-14.7162	18.3372	0.90293	0.0:1.0:0.0:0.0	.	162	Q5GJ75	TP8L3_HUMAN	S	162	ENSP00000328016:A162S	ENSP00000328016:A162S	A	-	1	0	0	TNFAIP8L3	49137765	49137765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.569000	0.86673	0.508000	0.49915	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_207381			94	94		604	594	1		1	0		0	0	157	0		1	9.660619e-01	0	0	0	37	0	94	604
CYP19A1	1588	broad.mit.edu	37	15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	73					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)			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)	TAGTTGCAGGCACTGCCGATC	0.502																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(217-219)Gcc>Acc		cytochrome P450, family 19, subfamily A, polypeptide 1	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)						108.0	102.0	104.0					15																	51529135		2196	4293	6489	SO:0001583	missense	1588	0	0					g.chr15:51529135C>T	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.217G>A	chr15.hg19:g.51529135C>T	ENSP00000379683:p.Ala73Thr	0					CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T	p.A73T	NM_000103.3	NP_000094.2	0	1	1	1.989262	P11511	CP19A_HUMAN		3	370	-			Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	1	1	hg19	c.217G>A	CCDS10139.1	1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441462	0.63067	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	5.06	0.68205	5.98	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.91196	3.185	0.80722	D	1	B;P	0.37038	0.253;0.579	B;P	0.47162	0.101;0.54	D	0.83742	0.0204	10	0.66056	D	0.02	-15.5037	14.5829	0.68305	0.0:0.9301:0.0:0.0699	.	73;73	Q8IYJ7;P11511	.;CP19A_HUMAN	T	73	ENSP00000379683:A73T;ENSP00000260433:A73T;ENSP00000379685:A73T;ENSP00000390614:A73T;ENSP00000383930:A73T;ENSP00000391139:A73T;ENSP00000384389:A73T	ENSP00000260433:A73T	A	-	1	0	0	CYP19A1	49316427	49316427	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.600000	0.67599	1.542000	0.49330	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				120	117		462	458	1		1			0	0	95	0		1	0	0	0	0	0	0	120	462
GLDN	342035	broad.mit.edu	37	15	51693790	51693790	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	343	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335449.6	1.000000	0.750000	1	8.700000e-01	0.990000	0.956284	0.990000	1.000000																										0				19						c.(1027-1029)gGc>gTc		gliomedin							198.0	162.0	174.0					15																	51693790		2196	4293	6489	SO:0001630	splice_region_variant	342035	0	0					g.chr15:51693790G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1028-1G>T	chr15.hg19:g.51693790G>T		0		OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979	GLDN_ENST00000396399.2_Splice_Site_p.G219V	p.G343V	NM_181789.2	NP_861454.2	0	1	1	1.989262	Q6ZMI3	GLDN_HUMAN		9	1084	+			Q6UXZ7|Q7Z359	Splice_Site	SNP	ENST00000335449.6	1	0	hg19	c.1028G>T	CCDS10140.2	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803327	0.90623	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92647	-3.08;-3.08	5.71	5.71	0.89125	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44285	D	0.000476	D	0.96244	0.8775	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95788	0.8822	9	.	.	.	.	18.8497	0.92222	0.0:0.0:1.0:0.0	.	343	Q6ZMI3	GLDN_HUMAN	V	343;219;219	ENSP00000335196:G343V;ENSP00000379681:G219V	.	G	+	2	0	0	GLDN	49481082	49481082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.384000	0.90160	2.692000	0.91855	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-12.154070	1	0.170000	NM_181789	Missense_Mutation		42	42		438	432	0		1	0		0	0	128	0		1	8.126938e-03	0	0	0	2	0	42	438
GLDN	342035	broad.mit.edu	37	15	51696637	51696637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	ENST00000335449.6	+	10	1398	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	448	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTCGAGCATTCTTGTAGCACA	0.448																																						ENST00000335449.6	1.000000	0.840000	1	9.500000e-01	0.990000	0.981931	0.990000	1.000000																										0				19						c.(1342-1344)Ctt>Att		gliomedin							159.0	147.0	151.0					15																	51696637		2196	4293	6489	SO:0001583	missense	342035	0	0					g.chr15:51696637C>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1342C>A	chr15.hg19:g.51696637C>A	ENSP00000335196:p.Leu448Ile	0					GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	p.L448I	NM_181789.2	NP_861454.2	0	1	1	1.989262	Q6ZMI3	GLDN_HUMAN		10	1398	+			Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	1	1	hg19	c.1342C>A	CCDS10140.2	1	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073370	0.08485	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88975	-2.45;-2.45	5.71	0.907	0.19321	5.71	0.907	0.19321	Olfactomedin-like (3);	0.402479	0.18238	N	0.147340	T	0.79240	0.4412	L	0.28115	0.83	0.31440	N	0.672055	B	0.25667	0.131	B	0.30029	0.11	T	0.71334	-0.4624	10	0.36615	T	0.2	.	5.3883	0.16229	0.1935:0.3411:0.3907:0.0747	.	448	Q6ZMI3	GLDN_HUMAN	I	448;324;324	ENSP00000335196:L448I;ENSP00000379681:L324I	ENSP00000335196:L448I	L	+	1	0	0	GLDN	49483929	49483929	1.000000	0.71417	0.011000	0.14972	0.156000	0.22039	1.863000	0.39459	0.296000	0.22592	0.563000	0.77884	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	0	0	1		21	2	2	1		1	1	103		103	102	1	2.060000	-17.216010	1	0.170000	NM_181789			63	63		619	611	0		1	0		1	0	103	0		9.999995e-01	2.033315e-01	0	0	0	9	0	63	619
DMXL2	23312	broad.mit.edu	37	15	51750948	51750948	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2656						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		ATTCCTTATGGATGACTTTCG	0.373																																						ENST00000251076.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(7966-7968)atC>atA		Dmx-like 2							118.0	113.0	115.0					15																	51750948		2196	4293	6489	SO:0001819	synonymous_variant	23312	0	0					g.chr15:51750948G>T	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.7968C>A	chr15.hg19:g.51750948G>T		0					DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA	p.I2656I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	0	1	1	1.989262	Q8TDJ6	DMXL2_HUMAN		34	8255	-			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	1	1	hg19	c.7968C>A	CCDS10141.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.233130	1	0.170000	NM_015263			66	65		343	338	1		1	1		0	0	109	0		1	9.966028e-01	0	6	0	41	0	66	343
DMXL2	23312	broad.mit.edu	37	15	51772901	51772901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1498L|DMXL2_ENST00000543779.2_Silent_p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2134						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		GTTTGGCCTGCAATCTTCTTC	0.448																																						ENST00000251076.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(6400-6402)ttG>ttA		Dmx-like 2							137.0	129.0	131.0					15																	51772901		2196	4293	6489	SO:0001819	synonymous_variant	23312	0	0					g.chr15:51772901C>T	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.6402G>A	chr15.hg19:g.51772901C>T		0					DMXL2_ENST00000543779.2_Silent_p.L2134L|DMXL2_ENST00000449909.3_Silent_p.L1498L|RP11-707P17.1_ENST00000561007.1_RNA	p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	0	1	1	1.989262	Q8TDJ6	DMXL2_HUMAN		24	6689	-			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	1	1	hg19	c.6402G>A	CCDS10141.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_015263			129	126		578	570	0		1	1		0	0	108	0		1	9.881083e-01	0	4	0	29	0	129	578
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		GTCTATAGATCTAAGAAGAAC	0.428																																						ENST00000251076.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(3700-3702)aGa>aAa		Dmx-like 2							185.0	159.0	168.0					15																	51791720		2195	4293	6488	SO:0001583	missense	23312	0	0					g.chr15:51791720C>T	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.3701G>A	chr15.hg19:g.51791720C>T	ENSP00000251076:p.Arg1234Lys	0					DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	p.R1234K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	0	1	1	1.989262	Q8TDJ6	DMXL2_HUMAN		18	3988	-			B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	1	1	hg19	c.3701G>A	CCDS10141.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	0	DMXL2	49579012	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_015263			101	100		502	493	1		1	0		0	0	124	0		1	7.430568e-01	0	1	0	14	0	101	502
DMXL2	23312	broad.mit.edu	37	15	51860756	51860756	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		AAGCTGCAATCTAAAAAAGAA	0.249																																						ENST00000251076.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				101						c.e3-1		Dmx-like 2							27.0	27.0	27.0					15																	51860756		2170	4257	6427	SO:0001630	splice_region_variant	23312	0	0					g.chr15:51860756C>A	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.214-1G>T	chr15.hg19:g.51860756C>A		0					DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	0	1	1	1.989262	Q8TDJ6	DMXL2_HUMAN		3	501	-			B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	1	1	hg19		CCDS10141.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550711	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.04	5.04	0.67666	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7452	0.91789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DMXL2	49648048	49648048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.359000	0.79477	2.507000	0.84556	0.650000	0.86243	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_015263	Intron		22	21		76	75	0		1	0		0	0	38	0		9.999994e-01	0	0	0	0	1	0	22	76
SCG3	29106	broad.mit.edu	37	15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	114					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)			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)		AACCAAGAATCGAAAACTGAT	0.318																																						ENST00000220478.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(340-342)Cga>Tga		secretogranin III							119.0	126.0	124.0					15																	51975574		2195	4293	6488	SO:0001587	stop_gained	29106	0	0					g.chr15:51975574C>T	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.340C>T	chr15.hg19:g.51975574C>T	ENSP00000220478:p.Arg114*	0					SCG3_ENST00000542355.2_5'UTR	p.R114*	NM_013243.3	NP_037375.2	0	1	1	1.989262	Q8WXD2	SCG3_HUMAN		4	743	+			A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Nonsense_Mutation	SNP	ENST00000220478.3	0	1	hg19	c.340C>T	CCDS10142.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.080766	0.98643	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.07	4.16	0.48862	6.07	4.16	0.48862	.	0.059838	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.973	10.9175	0.47146	0.1314:0.8019:0.0:0.0667	.	.	.	.	X	114	.	ENSP00000220478:R114X	R	+	1	2	2	SCG3	49762866	49762866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.223000	0.51231	1.534000	0.49203	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-3.319085	1	0.170000	NM_013243			83	83		481	473	1		1	0		0	0	110	0		1	9.988679e-01	0	0	0	60	0	83	481
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					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)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378																																						ENST00000261845.5	1.000000	0.860000	1	9.700000e-01	0.990000	0.986798	0.990000	1.000000																										0				20						c.(46-48)Ctg>Ttg		mitogen-activated protein kinase 6							146.0	149.0	148.0					15																	52338703		2195	4293	6488	SO:0001819	synonymous_variant	5597	0	0					g.chr15:52338703C>T	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.46C>T	chr15.hg19:g.52338703C>T		0						p.L16L	NM_002748.3	NP_002739.1	0	1	1	1.989262	Q16659	MK06_HUMAN		2	853	+			B2R945|B5BU65|Q68DH4|Q8IYN8	Silent	SNP	ENST00000261845.5	1	1	hg19	c.46C>T	CCDS10147.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	1	0	0		2	2	2	0		0	0	179		179	178	1	2.060000	-19.604640	1	0.170000	NM_002748			74	73		719	697	1		1	1		0	0	179	0		1	9.998399e-01	0	12	0	110	0	74	719
MAPK6	5597	broad.mit.edu	37	15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTTTCTGCTGTAGACAAT	0.378																																						ENST00000261845.5	0.660000	0.310000	5.700000e-01	3.900000e-01	0.470000	0.485907	0.470000	0.470000																										0				20						c.(109-111)gCt>gTt		mitogen-activated protein kinase 6							117.0	118.0	118.0					15																	52338767		2195	4293	6488	SO:0001583	missense	5597	0	0					g.chr15:52338767C>T	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.110C>T	chr15.hg19:g.52338767C>T	ENSP00000261845:p.Ala37Val	0						p.A37V	NM_002748.3	NP_002739.1	0	1	1	1.989262	Q16659	MK06_HUMAN		2	917	+			B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	1	1	hg19	c.110C>T	CCDS10147.1	0	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588654	0.86851	.	.	ENSG00000069956	ENST00000261845	T	0.55413	0.52	5.17	5.17	0.71159	5.17	5.17	0.71159	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	0.64438	0.2598	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66618	-0.5878	10	0.56958	D	0.05	-17.1548	18.7507	0.91814	0.0:1.0:0.0:0.0	.	37	Q16659	MK06_HUMAN	V	37	ENSP00000261845:A37V	ENSP00000261845:A37V	A	+	2	0	0	MAPK6	50126059	50126059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.445000	0.82738	0.650000	0.86243	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	0	0	0		2	2	2	0		0	0	148		148	148	1	2.060000	-4.208557	1	0.170000	NM_002748			27	28		641	626	0		1	1		0	0	148	0		9.999999e-01	9.733711e-01	0	11	0	129	0	27	641
GNB5	10681	broad.mit.edu	37	15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T	rs201352368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	274					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493																																						ENST00000261837.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(820-822)Gtg>Atg		guanine nucleotide binding protein (G protein), beta 5		C	MET/VAL,MET/VAL	0,4390		0,0,2195	164.0	126.0	139.0		694,820	4.8	1.0	15		139	4,8582	3.7+/-12.6	0,4,4289	yes	missense,missense	GNB5	NM_006578.3,NM_016194.3	21,21	0,4,6484	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	232/354,274/396	52425618	4,12972	2195	4293	6488	SO:0001583	missense	10681	20	121412	46				g.chr15:52425618C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.820G>A	chr15.hg19:g.52425618C>T	ENSP00000261837:p.Val274Met	0					GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M	p.V274M	NM_016194.3	NP_057278.2	0	1	1	1.989262	O14775	GBB5_HUMAN		9	885	-			B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	1	1	hg19	c.820G>A	CCDS10149.1	1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925855	0.73213	0.0	4.66E-4	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62105	0.05	5.78	4.77	0.60923	5.78	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126087	0.52532	D	0.000066	T	0.58764	0.2145	L	0.37630	1.12	0.80722	D	1	P;P	0.46621	0.881;0.871	P;P	0.51701	0.574;0.677	T	0.60860	-0.7179	10	0.66056	D	0.02	-18.5063	6.5084	0.22208	0.0:0.7194:0.0:0.2806	.	274;162	O14775;O14775-3	GBB5_HUMAN;.	M	274;232;72;162	ENSP00000261837:V274M	ENSP00000261837:V274M	V	-	1	0	0	GNB5	50212910	50212910	0.997000	0.39634	0.990000	0.47175	0.929000	0.56500	3.033000	0.49743	2.724000	0.93272	0.563000	0.77884	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-20.000000	1	0.170000				63	63		362	353	1		1	1		0	0	94	0		1	1	0	45	0	127	0	63	362
MYO5C	55930	broad.mit.edu	37	15	52513390	52513390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1230						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348																																						ENST00000261839.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999920	0.990000	1.000000																										0				66						c.(3688-3690)atC>atT		myosin VC							117.0	109.0	111.0					15																	52513390		1829	4075	5904	SO:0001819	synonymous_variant	55930	0	0					g.chr15:52513390G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3690C>T	chr15.hg19:g.52513390G>A		0						p.I1230I	NM_018728.3	NP_061198.2	0	1	1	1.989262	Q9NQX4	MYO5C_HUMAN		30	3851	-			Q6P1W8	Silent	SNP	ENST00000261839.7	1	1	hg19	c.3690C>T	CCDS42036.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_018728			43	40		276	267	0		1	1		0	0	51	0		1	9.986897e-01	0	3	0	64	0	43	276
MYO5C	55930	broad.mit.edu	37	15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	633	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443																																						ENST00000261839.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				66						c.(1897-1899)taC>taA		myosin VC							116.0	115.0	116.0					15																	52539194		2007	4173	6180	SO:0001587	stop_gained	55930	0	0					g.chr15:52539194G>T	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.1899C>A	chr15.hg19:g.52539194G>T	ENSP00000261839:p.Tyr633*	0					MYO5C_ENST00000443683.2_3'UTR	p.Y633*	NM_018728.3	NP_061198.2	0	1	1	1.989262	Q9NQX4	MYO5C_HUMAN		16	2060	-			Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	0	1	hg19	c.1899C>A	CCDS42036.1	1	.	.	.	.	.	.	.	.	.	.	G	40	7.983179	0.98594	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.27	4.12	0.48240	5.27	4.12	0.48240	.	0.660669	0.15813	N	0.243391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7352	0.23405	0.2559:0.0:0.7441:0.0	.	.	.	.	X	633	.	ENSP00000261839:Y633X	Y	-	3	2	2	MYO5C	50326486	50326486	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.936000	0.40183	2.628000	0.89032	0.561000	0.74099	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_018728			52	52		288	284	1		1	0		0	0	90	0		1	9.456109e-01	0	1	0	28	0	52	288
MYO5A	4644	broad.mit.edu	37	15	52656853	52656853	+	Silent	SNP	G	G	A	rs183302379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1069					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)			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)		CATTAAGGTCGAGTTCCAGTT	0.388													G|||	10	0.00199681	0.0	0.0	5008	,	,		16743	0.0099		0.0	False		,,,				2504	0.0					ENST00000399231.3	1.000000	0.800000	1	9.200000e-01	0.990000	0.974521	0.990000	1.000000																										0				57						c.(3205-3207)ctC>ctT		myosin VA (heavy chain 12, myoxin)							175.0	158.0	163.0					15																	52656853		1842	4088	5930	SO:0001819	synonymous_variant	4644	88	120816	52				g.chr15:52656853G>A		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.3207C>T	chr15.hg19:g.52656853G>A		0					MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	p.L1069L	NM_000259.3	NP_000250	0	1	1	1.989262	Q9Y4I1	MYO5A_HUMAN		24	3450	-			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	1	1	hg19	c.3207C>T	CCDS42037.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.017764	1	0.170000	NM_000259			47	46		465	455	0		1	1		0	0	74	0		1	7.051852e-01	0	4	0	22	0	47	465
WDR72	256764	broad.mit.edu	37	15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000396328.1	-	19	3481	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1081										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)		TGGACTCTCAGACTCTTCCAA	0.468																																						ENST00000396328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(3241-3243)tCt>tTt		WD repeat domain 72							183.0	178.0	180.0					15																	53815426		2194	4293	6487	SO:0001583	missense	256764	0	0					g.chr15:53815426G>A	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.3242C>T	chr15.hg19:g.53815426G>A	ENSP00000379619:p.Ser1081Phe	0					WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F	p.S1081F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	0	1	1	1.989262	Q3MJ13	WDR72_HUMAN		19	3481	-			Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	1	1	hg19	c.3242C>T	CCDS10151.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616979	0.66672	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.235283	0.30649	N	0.009171	T	0.63129	0.2485	L	0.51422	1.61	0.37861	D	0.929711	D	0.64830	0.994	P	0.60173	0.87	T	0.65076	-0.6256	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1081	Q3MJ13	WDR72_HUMAN	F	1081	ENSP00000379619:S1081F;ENSP00000353699:S1081F	ENSP00000353699:S1081F	S	-	2	0	0	WDR72	51602718	51602718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.941000	0.99782	0.655000	0.94253	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	1	0	1		2	2	2	0		0	0	196		196	195	1	2.060000	-20.000000	1	0.170000	NM_182758			166	162		861	828	1		1	0		0	0	196	0		1	2.529266e-01	0	0	0	6	0	166	861
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000396328.1	-	18	3228	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I	WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										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)		TGTTGTTGAACTTCCGCCAAG	0.383																																						ENST00000396328.1	0.590000	0.310000	5.200000e-01	3.700000e-01	0.430000	0.448683	0.430000	0.430000																										0				71						c.(2989-2991)Gtt>Att		WD repeat domain 72							219.0	202.0	208.0					15																	53889435		2194	4293	6487	SO:0001583	missense	256764	0	0					g.chr15:53889435C>T	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.2989G>A	chr15.hg19:g.53889435C>T	ENSP00000379619:p.Val997Ile	0					WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I	p.V997I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	0	1	1	1.989262	Q3MJ13	WDR72_HUMAN		18	3228	-			Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	1	1	hg19	c.2989G>A	CCDS10151.1	0	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909339	0.72868	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	6.04	5.13	0.70059	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.47116	0.1428	M	0.61703	1.905	0.28436	N	0.917058	D	0.53312	0.959	P	0.47744	0.556	T	0.49303	-0.8954	10	0.42905	T	0.14	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	I	997	ENSP00000379619:V997I;ENSP00000353699:V997I	ENSP00000353699:V997I	V	-	1	0	0	WDR72	51676727	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	0	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-4.337845	1	0.170000	NM_182758			36	36		923	903	0		1	0		0	0	149	0		1	4.421214e-03	0	0	0	3	0	36	923
WDR72	256764	broad.mit.edu	37	15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000396328.1	-	15	2242	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	668										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)		CTTCACAGGCAAGACATTAAA	0.343																																						ENST00000396328.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				71						c.(2002-2004)tTg>tCg		WD repeat domain 72							59.0	57.0	57.0					15																	53908400		2193	4292	6485	SO:0001583	missense	256764	0	0					g.chr15:53908400A>G	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.2003T>C	chr15.hg19:g.53908400A>G	ENSP00000379619:p.Leu668Ser	0					WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S	p.L668S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	0	1	1	1.989262	Q3MJ13	WDR72_HUMAN		15	2242	-			Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	1	1	hg19	c.2003T>C	CCDS10151.1	1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598868	0.46318	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39229	1.09;1.09	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.221234	0.31519	N	0.007503	T	0.42314	0.1197	L	0.32530	0.975	0.35638	D	0.810786	P	0.46706	0.883	P	0.49752	0.621	T	0.51379	-0.8713	10	0.33141	T	0.24	.	14.2825	0.66221	1.0:0.0:0.0:0.0	.	668	Q3MJ13	WDR72_HUMAN	S	668	ENSP00000379619:L668S;ENSP00000353699:L668S	ENSP00000353699:L668S	L	-	2	0	0	WDR72	51695692	51695692	0.969000	0.33509	0.979000	0.43373	0.571000	0.35966	2.695000	0.47043	1.972000	0.57404	0.260000	0.18958	TTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_182758			40	40		207	203	1		1	0		0	0	57	0		1	1.936691e-01	0	0	0	5	0	40	207
UNC13C	440279	broad.mit.edu	37	15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000260323.11	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	535					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363																																						ENST00000260323.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				121						c.(1603-1605)tgG>tgA		unc-13 homolog C (C. elegans)							58.0	58.0	58.0					15																	54306705		1854	4111	5965	SO:0001587	stop_gained	440279	0	0					g.chr15:54306705G>A	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.1605G>A	chr15.hg19:g.54306705G>A	ENSP00000260323:p.Trp535*	0					UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*	p.W535*	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		1	1605	+			Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	0	1	hg19	c.1605G>A	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.471675	0.98306	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000260323:W535X	W	+	3	0	0	UNC13C	52093997	52093997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.608000	0.88229	0.655000	0.94253	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.789354	1	0.170000	NM_173166			50	49		189	184	1		1			0	0	44	0		1	0	0	0	0	0	0	50	189
UNC13C	440279	broad.mit.edu	37	15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000260323.11	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	964					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413																																						ENST00000260323.11	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				121						c.(2890-2892)aaG>aaT		unc-13 homolog C (C. elegans)							64.0	61.0	62.0					15																	54307992		1853	4093	5946	SO:0001583	missense	440279	0	0					g.chr15:54307992G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2892G>T	chr15.hg19:g.54307992G>T	ENSP00000260323:p.Lys964Asn	0					UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N	p.K964N	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		1	2892	+			Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	1	1	hg19	c.2892G>T	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311224	0.23821	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.31;-1.32	5.58	4.47	0.54385	5.58	4.47	0.54385	.	.	.	.	.	T	0.79161	0.4399	L	0.29908	0.895	0.31722	N	0.638127	D	0.67145	0.996	P	0.54544	0.755	T	0.76531	-0.2925	9	0.25751	T	0.34	.	14.4467	0.67356	0.0835:0.0:0.9165:0.0	.	964	Q8NB66	UN13C_HUMAN	N	964	ENSP00000260323:K964N;ENSP00000438156:K964N;ENSP00000442569:K964N	ENSP00000260323:K964N	K	+	3	2	2	UNC13C	52095284	52095284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.635000	0.89317	0.650000	0.86243	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-15.660190	1	0.170000	NM_173166			20	19		70	69	1		1			0	0	18	0		9.999976e-01	0	0	0	0	0	0	20	70
UNC13C	440279	broad.mit.edu	37	15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000260323.11	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378																																						ENST00000260323.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				121						c.(3139-3141)gTc>gCc		unc-13 homolog C (C. elegans)							138.0	129.0	132.0					15																	54527296		1853	4092	5945	SO:0001583	missense	440279	0	0					g.chr15:54527296T>C	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.3140T>C	chr15.hg19:g.54527296T>C	ENSP00000260323:p.Val1047Ala	0					UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A	p.V1047A	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		4	3140	+			Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	1	1	hg19	c.3140T>C	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849672	0.71603	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85411	-1.97;-1.98;-1.94	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.131907	0.49916	D	0.000125	D	0.92028	0.7474	M	0.80332	2.49	0.47862	D	0.999538	D	0.63880	0.993	D	0.70016	0.967	D	0.92958	0.6386	10	0.87932	D	0	.	14.1387	0.65306	0.0:0.0:0.0:1.0	.	1047	Q8NB66	UN13C_HUMAN	A	1047	ENSP00000260323:V1047A;ENSP00000438156:V1047A;ENSP00000442569:V1047A	ENSP00000260323:V1047A	V	+	2	0	0	UNC13C	52314588	52314588	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.601000	0.74136	2.287000	0.76781	0.482000	0.46254	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-19.999810	1	0.170000	NM_173166			39	38		161	161	1		1			0	0	30	0		1	0	0	0	0	0	0	39	161
UNC13C	440279	broad.mit.edu	37	15	54556523	54556523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000260323.11	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000545554.1_Silent_p.Q1202Q|UNC13C_ENST00000537900.1_Silent_p.Q1200Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1202					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358																																						ENST00000260323.11	1.000000	0.900000	1	9.900000e-01	0.990000	0.994150	0.990000	1.000000																										0				121						c.(3604-3606)caG>caA		unc-13 homolog C (C. elegans)							41.0	40.0	40.0					15																	54556523		1804	4061	5865	SO:0001819	synonymous_variant	440279	0	0					g.chr15:54556523G>A	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.3606G>A	chr15.hg19:g.54556523G>A		0					UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000545554.1_Silent_p.Q1202Q	p.Q1202Q	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		8	3606	+			Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	0	1	hg19	c.3606G>A	CCDS45264.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-18.696260	1	0.170000	NM_173166			10	10		53	53	1		1			0	0	11	0		9.976685e-01	0	0	0	0	0	0	10	53
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000260323.11	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353																																						ENST00000260323.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				121						c.(3961-3963)gGa>gAa		unc-13 homolog C (C. elegans)							231.0	233.0	233.0					15																	54586236		1871	4103	5974	SO:0001583	missense	440279	0	0					g.chr15:54586236G>A	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.3962G>A	chr15.hg19:g.54586236G>A	ENSP00000260323:p.Gly1321Glu	0					UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E	p.G1321E	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		10	3962	+			Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	1	1	hg19	c.3962G>A	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915595	0.92178	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72051	-0.62;-0.62;-0.62	5.91	5.91	0.95273	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	E	1321;1321;1319	ENSP00000260323:G1321E;ENSP00000438156:G1321E;ENSP00000442569:G1319E	ENSP00000260323:G1321E	G	+	2	0	0	UNC13C	52373528	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	174		174	173	1	2.060000	-3.246615	1	0.170000	NM_173166			132	127		616	602	1		1			0	0	174	0		1	0	0	0	0	0	0	132	616
UNC13C	440279	broad.mit.edu	37	15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000260323.11	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1511					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGACTGCAAGACCTGAAATC	0.348																																						ENST00000260323.11	1.000000	0.990000	1	9.900000e-01	0.990000	0.998577	0.990000	1.000000																										0				121						c.(4531-4533)Gac>Aac		unc-13 homolog C (C. elegans)							140.0	130.0	133.0					15																	54626001		1851	4083	5934	SO:0001583	missense	440279	0	0					g.chr15:54626001G>A	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.4531G>A	chr15.hg19:g.54626001G>A	ENSP00000260323:p.Asp1511Asn	0					UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N|UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N	p.D1511N	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		15	4531	+			Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	1	1	hg19	c.4531G>A	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.201310	0.94997	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.82;-1.84;-1.83	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.047752	0.85682	D	0.000000	D	0.92685	0.7675	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92876	0.6319	10	0.66056	D	0.02	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1511;1511	F5H090;Q8NB66	.;UN13C_HUMAN	N	1511;1511;1509	ENSP00000260323:D1511N;ENSP00000438156:D1511N;ENSP00000442569:D1509N	ENSP00000260323:D1511N	D	+	1	0	0	UNC13C	52413293	52413293	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.970880	1	0.170000	NM_173166			11	11		44	43	1		1			0	0	19	0		9.987915e-01	0	0	0	0	0	0	11	44
UNC13C	440279	broad.mit.edu	37	15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000260323.11	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAAACACCACATCTAATAA	0.313																																						ENST00000260323.11	1.000000	0.820000	1	9.900000e-01	0.990000	0.989348	0.990000	1.000000																										0				121						c.(5623-5625)Aca>Cca		unc-13 homolog C (C. elegans)							81.0	82.0	81.0					15																	54825191		1824	4090	5914	SO:0001583	missense	440279	0	0					g.chr15:54825191A>C	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.5623A>C	chr15.hg19:g.54825191A>C	ENSP00000260323:p.Thr1875Pro	0					UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P	p.T1875P	NM_001080534.1	NP_001074003.1	0	1	1	1.989262	Q8NB66	UN13C_HUMAN		25	5623	+			Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	0	1	hg19	c.5623A>C	CCDS45264.1	1	.	.	.	.	.	.	.	.	.	.	A	8.458	0.854665	0.17106	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13901	2.55;2.55;2.55	5.69	-1.44	0.08856	5.69	-1.44	0.08856	.	0.457329	0.24452	N	0.038410	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.24974	0.057	T	0.36529	-0.9744	10	0.30078	T	0.28	.	6.431	0.21796	0.4589:0.0:0.4189:0.1221	.	1875	Q8NB66	UN13C_HUMAN	P	1875;1875;1873	ENSP00000260323:T1875P;ENSP00000438156:T1875P;ENSP00000442569:T1873P	ENSP00000260323:T1875P	T	+	1	0	0	UNC13C	52612483	52612483	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.379000	0.07437	-0.249000	0.09569	0.459000	0.35465	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-7.784347	1	0.170000	NM_173166			9	9		52	51	1		1			0	0	9	0		9.950406e-01	0	0	0	0	0	0	9	52
RSL24D1	51187	broad.mit.edu	37	15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	87					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313																																						ENST00000260443.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				7						c.(259-261)aAt>aTt		ribosomal L24 domain containing 1							107.0	105.0	106.0					15																	55483181		2193	4289	6482	SO:0001583	missense	51187	0	0					g.chr15:55483181T>A	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"""chromosome 15 open reading frame 15"""	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.260A>T	chr15.hg19:g.55483181T>A	ENSP00000260443:p.Asn87Ile	0					RSL24D1_ENST00000565854.1_5'Flank	p.N87I	NM_016304.2	NP_057388.1	0	1	1	1.989262	Q9UHA3	RLP24_HUMAN		3	436	-			B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	ENST00000260443.4	1	1	hg19	c.260A>T	CCDS10152.1	1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083419	0.36758	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.99	2.61	0.31194	4.99	2.61	0.31194	.	0.365309	0.34067	N	0.004288	T	0.37348	0.1000	L	0.38175	1.15	0.39358	D	0.965879	P	0.40398	0.716	B	0.37833	0.259	T	0.11203	-1.0597	9	0.35671	T	0.21	-35.9334	7.1273	0.25479	0.0:0.1844:0.0:0.8156	.	87	Q9UHA3	RLP24_HUMAN	I	87	.	ENSP00000260443:N87I	N	-	2	0	0	RSL24D1	53270473	53270473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.726000	0.25984	0.316000	0.23135	-0.290000	0.09829	AAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_016304			28	28		131	127	1		1	1		0	0	42	0		1	1	0	120	0	405	0	28	131
RAB27A	5873	broad.mit.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). {ECO:0000269|PubMed:10835631}.		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393																																						ENST00000396307.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9	GRCh37	CM001324	RAB27A	M	rs104894499	c.(454-456)Gca>Aca		RAB27A, member RAS oncogene family							177.0	181.0	180.0					15																	55516100		2193	4292	6485	SO:0001583	missense	5873	0	0					g.chr15:55516100C>T	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	chr15.hg19:g.55516100C>T	ENSP00000379601:p.Ala152Thr	0					RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T	p.A152T	NM_004580.4	NP_004571.2	0	1	1	1.989262	P51159	RB27A_HUMAN		5	705	-			O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	1	1	hg19	c.454G>A	CCDS10153.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	0	RAB27A	53303392	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	1	0	1		2	2	2	0		0	0	229		229	229	1	2.060000	-20.000000	1	0.170000	NM_004580, NM_183236			213	209		1040	1031	1		1	1		0	0	229	0		1	1	0	35	0	145	0	213	1040
PIGB	9488	broad.mit.edu	37	15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	RP11-139H15.1_ENST00000565225.1_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000436697.2_RNA|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	128					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)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338																																						ENST00000164305.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998705	0.990000	1.000000																										0				11						c.(382-384)Ctt>Att		phosphatidylinositol glycan anchor biosynthesis, class B							88.0	83.0	84.0					15																	55613553		1817	4077	5894	SO:0001583	missense	9488	0	0					g.chr15:55613553C>A	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.382C>A	chr15.hg19:g.55613553C>A	ENSP00000164305:p.Leu128Ile	0					RP11-139H15.1_ENST00000436697.2_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000567948.1_RNA|RP11-139H15.1_ENST00000565225.1_RNA|PIGB_ENST00000539642.1_Intron	p.L128I	NM_004855.4	NP_004846.4	0	1	1	1.989262	Q92521	PIGB_HUMAN		3	673	+			Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	1	1	hg19	c.382C>A		1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314419	0.60524	.	.	ENSG00000069943	ENST00000164305	T	0.66638	-0.22	4.77	3.85	0.44370	4.77	3.85	0.44370	.	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.78981	-0.1989	10	0.49607	T	0.09	-8.4769	9.1361	0.36875	0.0:0.9004:0.0:0.0996	.	128	Q92521	PIGB_HUMAN	I	128	ENSP00000164305:L128I	ENSP00000164305:L128I	L	+	1	0	0	PIGB	53400845	53400845	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.935000	0.28924	1.223000	0.43536	0.650000	0.86243	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.999850	1	0.170000	NM_004855			13	12		60	60	1		1	1		0	0	18	0		9.996733e-01	9.862475e-01	0	5	0	32	0	13	60
PRTG	283659	broad.mit.edu	37	15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498																																						ENST00000389286.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3298-3300)aGc>aAc		protogenin							112.0	110.0	111.0					15																	55912364		1893	4115	6008	SO:0001583	missense	283659	0	0					g.chr15:55912364C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3299G>A	chr15.hg19:g.55912364C>T	ENSP00000373937:p.Ser1100Asn	0						p.S1100N	NM_173814.4	NP_776175.2	0	1	1	1.989262				20	3346	-				Missense_Mutation	SNP	ENST00000389286.4	1	1	hg19	c.3299G>A	CCDS42040.1	1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817317	0.16607	.	.	ENSG00000166450	ENST00000389286	T	0.53640	0.61	5.84	-0.687	0.11320	5.84	-0.687	0.11320	.	0.386496	0.30501	N	0.009484	T	0.28167	0.0695	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02950	-1.1090	10	0.36615	T	0.2	-6.4774	5.4248	0.16419	0.0:0.3966:0.2439:0.3595	.	1100	Q2VWP7	PRTG_HUMAN	N	1100	ENSP00000373937:S1100N	ENSP00000373937:S1100N	S	-	2	0	0	PRTG	53699656	53699656	0.001000	0.12720	0.912000	0.35992	0.489000	0.33432	-0.035000	0.12205	-0.109000	0.12044	-0.808000	0.03180	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1		2	2	2	0		0	0	116		116	112	1	2.060000	-20.000000	1	0.170000	NM_173814			71	71		388	382	1		1	0		0	0	116	0		1	2.467814e-02	0	0	0	2	0	71	388
PRTG	283659	broad.mit.edu	37	15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498																																						ENST00000389286.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1948-1950)gGc>gAc		protogenin							119.0	118.0	119.0					15																	55964735		1950	4125	6075	SO:0001583	missense	283659	0	0					g.chr15:55964735C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1949G>A	chr15.hg19:g.55964735C>T	ENSP00000373937:p.Gly650Asp	0						p.G650D	NM_173814.4	NP_776175.2	0	1	1	1.989262				11	1996	-				Missense_Mutation	SNP	ENST00000389286.4	1	1	hg19	c.1949G>A	CCDS42040.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004642	0.93287	.	.	ENSG00000166450	ENST00000389286	T	0.37235	1.21	5.52	5.52	0.82312	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267337	0.42964	D	0.000640	T	0.68787	0.3039	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75439	-0.3317	10	0.72032	D	0.01	-15.1368	18.4581	0.90728	0.0:1.0:0.0:0.0	.	650	Q2VWP7	PRTG_HUMAN	D	650	ENSP00000373937:G650D	ENSP00000373937:G650D	G	-	2	0	0	PRTG	53752027	53752027	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.537000	0.82033	2.591000	0.87537	0.650000	0.86243	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	0		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_173814			72	70		284	281	1		1	0		0	0	82	0		1	1.876679e-01	0	0	0	4	0	72	284
PRTG	283659	broad.mit.edu	37	15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512																																						ENST00000389286.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1657-1659)cGc>cAc		protogenin							106.0	112.0	110.0					15																	55965763		1914	4113	6027	SO:0001583	missense	283659	0	0					g.chr15:55965763C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1658G>A	chr15.hg19:g.55965763C>T	ENSP00000373937:p.Arg553His	0						p.R553H	NM_173814.4	NP_776175.2	0	1	1	1.989262				10	1705	-				Missense_Mutation	SNP	ENST00000389286.4	1	1	hg19	c.1658G>A	CCDS42040.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872775	0.72180	.	.	ENSG00000166450	ENST00000389286	T	0.58940	0.3	4.92	4.92	0.64577	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058015	0.64402	D	0.000001	T	0.57961	0.2089	M	0.67625	2.065	0.80722	D	1	P	0.35328	0.495	B	0.33254	0.16	T	0.64309	-0.6438	10	0.59425	D	0.04	-12.1641	17.4907	0.87702	0.0:1.0:0.0:0.0	.	553	Q2VWP7	PRTG_HUMAN	H	553	ENSP00000373937:R553H	ENSP00000373937:R553H	R	-	2	0	0	PRTG	53753055	53753055	1.000000	0.71417	0.654000	0.29608	0.810000	0.45777	5.601000	0.67606	2.428000	0.82296	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_173814			98	98		522	509	1		1	0		0	0	136	0		1	1.215417e-01	0	1	0	3	0	98	522
PRTG	283659	broad.mit.edu	37	15	55972411	55972411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1		RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323																																						ENST00000389286.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.e6-1		protogenin							57.0	53.0	54.0					15																	55972411		1837	4088	5925	SO:0001630	splice_region_variant	283659	0	0					g.chr15:55972411C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.815-1G>T	chr15.hg19:g.55972411C>A		0					RP11-420M1.2_ENST00000561155.1_RNA		NM_173814.4	NP_776175.2	0	1	1	1.989262				6	862	-				Splice_Site	SNP	ENST00000389286.4	1	1	hg19		CCDS42040.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134080	0.77662	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.62	5.62	0.85841	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PRTG	53759703	53759703	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.583000	0.82559	2.809000	0.96659	0.467000	0.42956	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_173814	Intron		32	32		131	130	1		1			0	0	24	0		1	0	0	0	0	0	0	32	131
NEDD4	4734	broad.mit.edu	37	15	56132913	56132913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000508342.1	-	16	3407	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T|NEDD4_ENST00000338963.2_Silent_p.T964T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1036	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)			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)		TTATCTGTAGGGTATAATTGT	0.343																																						ENST00000508342.1	1.000000	0.780000	1	8.900000e-01	0.990000	0.963565	0.990000	1.000000																										0				43						c.(3106-3108)acC>acT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							128.0	138.0	135.0					15																	56132913		2193	4292	6485	SO:0001819	synonymous_variant	4734	0	0					g.chr15:56132913G>A	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.3108C>T	chr15.hg19:g.56132913G>A		0					NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T|NEDD4_ENST00000338963.2_Silent_p.T964T	p.T1036T	NM_001284338.1	NP_001271267.1	0	1	1	1.989262	P46934	NEDD4_HUMAN		16	3407	-			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	1	1	hg19	c.3108C>T		1	.	.	.	.	.	.	.	.	.	.	G	8.466	0.856497	0.17106	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.96	3.05	0.35203	5.96	3.05	0.35203	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	4.4455	0.11595	0.2991:0.0:0.5536:0.1473	.	.	.	.	L	627	.	.	P	-	2	0	0	NEDD4	53920205	53920205	0.658000	0.27402	0.998000	0.56505	0.998000	0.95712	-0.196000	0.09532	0.398000	0.25338	0.655000	0.94253	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-2.598634	1	0.170000	NM_198400			57	56		594	589	0		1	1		0	0	115	0		1	6.367933e-01	0	4	0	20	0	57	594
NEDD4	4734	broad.mit.edu	37	15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000508342.1	-	14	3116	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S|NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	939	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			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)		TTTTGTAATCCCTGGAGTAGG	0.299																																						ENST00000508342.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				43						c.(2815-2817)agG>agT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							56.0	55.0	56.0					15																	56139215		2192	4286	6478	SO:0001583	missense	4734	0	0					g.chr15:56139215C>A	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.2817G>T	chr15.hg19:g.56139215C>A	ENSP00000424827:p.Arg939Ser	0					NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S|NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S	p.R939S	NM_001284338.1	NP_001271267.1	0	1	1	1.989262	P46934	NEDD4_HUMAN		14	3116	-			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	1	1	hg19	c.2817G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807542|3.807542	0.70797|0.70797	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.24538	.|1.85;1.95;1.89;1.87	5.95|5.95	3.29|3.29	0.37713|0.37713	5.95|5.95	3.29|3.29	0.37713|0.37713	.|HECT (1);	.|0.122035	.|0.85682	.|D	.|0.000000	T|T	0.52757|0.52757	0.1754|0.1754	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.993;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.995;0.912;0.933;0.952	T|T	0.58741|0.58741	-0.7583|-0.7583	5|10	.|0.87932	.|D	.|0	.|.	9.2975|9.2975	0.37824|0.37824	0.0:0.6987:0.0:0.3013|0.0:0.6987:0.0:0.3013	.|.	.|923;520;939;867	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	530|939;520;867;923	.|ENSP00000424827:R939S;ENSP00000410613:R520S;ENSP00000345530:R867S;ENSP00000422705:R923S	.|ENSP00000345530:R867S	G|R	-|-	2|3	0|2	0|2	NEDD4|NEDD4	53926507|53926507	53926507|53926507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.470000|1.470000	0.35354|0.35354	1.167000|1.167000	0.42706|0.42706	0.650000|0.650000	0.86243|0.86243	GGG|AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-2.849532	1	0.170000	NM_198400			37	35		179	177	1		1	1		0	0	41	0		1	9.465383e-01	0	5	0	21	0	37	179
RFX7	64864	broad.mit.edu	37	15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000559447.2	-	9	4026	c.3755C>T	c.(3754-3756)aCt>aTt	p.T1252I	RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1252					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						GTCTTTAACAGTGCTATTGAA	0.423																																						ENST00000559447.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999849	0.990000	1.000000																										0				19						c.(3754-3756)aCt>aTt		regulatory factor X, 7							98.0	93.0	94.0					15																	56385880		1907	4119	6026	SO:0001583	missense	64864	0	0					g.chr15:56385880G>A			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.3755C>T	chr15.hg19:g.56385880G>A	ENSP00000453281:p.Thr1252Ile	0					RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I	p.T1252I			0	1	1	1.989262	Q2KHR2	RFX7_HUMAN		9	4026	-			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	1	1	hg19	c.3755C>T		1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307294	0.60305	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.63255	0.06;0.05;-0.03	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.74386	-0.3682	10	0.87932	D	0	-18.6485	19.1131	0.93326	0.0:0.0:1.0:0.0	.	1252;1252	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	1252;1349;1349	ENSP00000387504:T1252I;ENSP00000313299:T1349I;ENSP00000397644:T1349I	ENSP00000313299:T1349I	T	-	2	0	0	RFX7	54173172	54173172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.832000	0.97577	0.655000	0.94253	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.237523	1	0.170000	NM_022841			29	27		167	164	1		1	1		0	0	54	0		1	9.597444e-01	0	5	0	28	0	29	167
RFX7	64864	broad.mit.edu	37	15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000559447.2	-	9	1566	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000423270.1_Missense_Mutation_p.A529V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	432					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						TGTTCCCCCCGCACTGCTGCT	0.512																																						ENST00000559447.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1294-1296)gCg>gTg		regulatory factor X, 7							66.0	66.0	66.0					15																	56388340		2026	4180	6206	SO:0001583	missense	64864	0	0					g.chr15:56388340G>A			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.1295C>T	chr15.hg19:g.56388340G>A	ENSP00000453281:p.Ala432Val	0					RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000423270.1_Missense_Mutation_p.A529V	p.A432V			0	1	1	1.989262	Q2KHR2	RFX7_HUMAN		9	1566	-			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	1	1	hg19	c.1295C>T		1	.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077149	0.01903	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.66;0.66	5.23	4.31	0.51392	5.23	4.31	0.51392	.	0.777644	0.11207	N	0.588138	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.25187	-1.0139	10	0.52906	T	0.07	0.0044	13.119	0.59314	0.0782:0.0:0.9218:0.0	.	432;432	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	432;529;529	ENSP00000387504:A432V;ENSP00000313299:A529V;ENSP00000397644:A529V	ENSP00000313299:A529V	A	-	2	0	0	RFX7	54175632	54175632	0.000000	0.05858	0.338000	0.25549	0.666000	0.39218	0.620000	0.24403	1.181000	0.42912	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-3.764455	1	0.170000	NM_022841			32	31		106	103	1		1	1		0	0	29	0		1	9.800703e-01	0	7	0	17	0	32	106
ZNF280D	54816	broad.mit.edu	37	15	56923986	56923986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000267807.7	-	22	2866	c.2650T>C	c.(2650-2652)Ttg>Ctg	p.L884L	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Silent_p.L871L	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	884					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348																																						ENST00000267807.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2650-2652)Ttg>Ctg		zinc finger protein 280D							120.0	118.0	119.0					15																	56923986		2192	4292	6484	SO:0001819	synonymous_variant	54816	0	0					g.chr15:56923986A>G	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.2650T>C	chr15.hg19:g.56923986A>G		0					ZNF280D_ENST00000559237.1_Silent_p.L871L|RP11-1129I3.1_ENST00000562300.1_RNA	p.L884L	NM_017661.2	NP_060131.2	0	1	1	1.989262	Q6N043	Z280D_HUMAN		22	2866	-			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	1	1	hg19	c.2650T>C	CCDS32245.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	XM_370867			67	65		322	316	1		1	1		0	0	65	0		1	9.904657e-01	0	2	0	35	0	67	322
ZNF280D	54816	broad.mit.edu	37	15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000267807.7	-	16	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333																																						ENST00000267807.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1894-1896)Gaa>Aaa		zinc finger protein 280D							95.0	89.0	91.0					15																	56958693		2192	4292	6484	SO:0001583	missense	54816	1	121406	30				g.chr15:56958693C>T	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.1894G>A	chr15.hg19:g.56958693C>T	ENSP00000267807:p.Glu632Lys	0					ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K	p.E632K	NM_017661.2	NP_060131.2	0	1	1	1.989262	Q6N043	Z280D_HUMAN		16	2110	-			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	1	1	hg19	c.1894G>A	CCDS32245.1	1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325527	0.24080	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03242	4.0;4.48	4.96	4.03	0.46877	4.96	4.03	0.46877	.	0.898672	0.09068	U	0.853314	T	0.04952	0.0133	L	0.39085	1.19	0.32489	N	0.540437	B;B	0.28880	0.115;0.226	B;B	0.27380	0.025;0.079	T	0.24905	-1.0147	10	0.27785	T	0.31	-22.9372	14.0291	0.64604	0.1524:0.8476:0.0:0.0	.	695;632	B4DHL1;Q6N043	.;Z280D_HUMAN	K	632;619;336	ENSP00000267807:E632K;ENSP00000379545:E336K	ENSP00000267807:E632K	E	-	1	0	0	ZNF280D	54745985	54745985	0.999000	0.42202	0.962000	0.40283	0.991000	0.79684	4.260000	0.58835	1.193000	0.43086	0.467000	0.42956	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.161104	1	0.170000	XM_370867			86	84		361	357	1		1	1		0	0	81	0		1	9.874175e-01	0	2	0	29	0	86	361
ZNF280D	54816	broad.mit.edu	37	15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000267807.7	-	7	686	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TCCCCCTTGGTAATGTGATAA	0.343																																						ENST00000267807.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(469-471)tAc>tGc		zinc finger protein 280D							92.0	86.0	88.0					15																	56985325		2192	4292	6484	SO:0001583	missense	54816	1	121412	28				g.chr15:56985325T>C	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.470A>G	chr15.hg19:g.56985325T>C	ENSP00000267807:p.Tyr157Cys	0					ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C	p.Y157C	NM_017661.2	NP_060131.2	0	1	1	1.989262	Q6N043	Z280D_HUMAN		7	686	-			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	1	1	hg19	c.470A>G	CCDS32245.1	1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938903	0.52972	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.25414	1.8	5.73	3.35	0.38373	5.73	3.35	0.38373	.	.	.	.	.	T	0.33904	0.0879	L	0.34521	1.04	0.80722	D	1	D;D	0.56035	0.974;0.971	P;P	0.62813	0.907;0.855	T	0.01739	-1.1284	9	0.45353	T	0.12	-5.1008	10.3731	0.44066	0.262:0.0:0.0:0.738	.	220;157	B4DHL1;Q6N043	.;Z280D_HUMAN	C	157;144	ENSP00000267807:Y157C	ENSP00000267807:Y157C	Y	-	2	0	0	ZNF280D	54772617	54772617	1.000000	0.71417	0.355000	0.25773	0.983000	0.72400	2.039000	0.41193	0.398000	0.25338	0.477000	0.44152	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	XM_370867			44	44		209	204	1		1	1		0	0	56	0		1	9.927163e-01	0	3	0	35	0	44	209
CGNL1	84952	broad.mit.edu	37	15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	323	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			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)		TGCCATCCATGCCGACAACGT	0.498																																						ENST00000281282.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				60						c.(967-969)Gcc>Acc		cingulin-like 1							59.0	54.0	56.0					15																	57731164		2192	4292	6484	SO:0001583	missense	84952	0	0					g.chr15:57731164G>A	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.967G>A	chr15.hg19:g.57731164G>A	ENSP00000281282:p.Ala323Thr	0						p.A323T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	0	1	1	1.989262	Q0VF96	CGNL1_HUMAN		2	1045	+			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	1	1	hg19	c.967G>A	CCDS10161.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531946	0.85706	.	.	ENSG00000128849	ENST00000281282	T	0.49432	0.78	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.61640	0.2363	L	0.57536	1.79	0.39778	D	0.972257	D	0.57899	0.981	P	0.54924	0.764	T	0.64984	-0.6278	10	0.72032	D	0.01	-23.2504	19.8119	0.96549	0.0:0.0:1.0:0.0	.	323	Q0VF96	CGNL1_HUMAN	T	323	ENSP00000281282:A323T	ENSP00000281282:A323T	A	+	1	0	0	CGNL1	55518456	55518456	1.000000	0.71417	0.220000	0.23810	0.979000	0.70002	4.174000	0.58256	2.664000	0.90586	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_032866			40	40		200	194	1		1	0		0	0	42	0		1	9.221398e-01	0	0	0	24	0	40	200
CGNL1	84952	broad.mit.edu	37	15	57754064	57754064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	793						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			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)		GCAGGCCCTGAGGGAGAGTGT	0.537																																						ENST00000281282.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				60						c.(2377-2379)Agg>Cgg		cingulin-like 1							89.0	84.0	86.0					15																	57754064		2192	4292	6484	SO:0001819	synonymous_variant	84952	0	0					g.chr15:57754064A>C	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.2377A>C	chr15.hg19:g.57754064A>C		0						p.R793R	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	0	1	1	1.989262	Q0VF96	CGNL1_HUMAN		8	2455	+			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	1	1	hg19	c.2377A>C	CCDS10161.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	1	0	0		2	2	2	0		0	0	58		58	56	1	2.060000	-19.998860	1	0.170000	NM_032866			45	45		242	236	1		1	0		0	0	58	0		1	9.742218e-01	0	0	0	34	0	45	242
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					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)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299																																						ENST00000260408.3	0.610000	0.110000	4.500000e-01	1.900000e-01	0.300000	0.329737	0.300000	0.290000																										0				27						c.(220-222)cGa>cAa		ADAM metallopeptidase domain 10							75.0	76.0	76.0					15																	58974499		2192	4289	6481	SO:0001583	missense	102	1	121400	29				g.chr15:58974499C>T	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.221G>A	chr15.hg19:g.58974499C>T	ENSP00000260408:p.Arg74Gln	0					ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	p.R74Q	NM_001110.2	NP_001101.1	0	1	1	1.989262	O14672	ADA10_HUMAN		3	664	-			B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	0	1	hg19	c.221G>A	CCDS10167.1	0	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697421	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06449	3.3;3.3	5.67	5.67	0.87782	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66506	2.035	0.80722	D	1	P;P	0.42518	0.769;0.782	B;B	0.43386	0.322;0.418	T	0.02081	-1.1217	10	0.30854	T	0.27	-29.3089	19.7476	0.96257	0.0:1.0:0.0:0.0	.	74;74	A0AV88;O14672	.;ADA10_HUMAN	Q	74	ENSP00000260408:R74Q;ENSP00000391930:R74Q	ENSP00000260408:R74Q	R	-	2	0	0	ADAM10	56761791	56761791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.678000	0.91216	0.591000	0.81541	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	0	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-2.998402	1	0.170000	NM_001110			5	5		201	200	0		1	1		0	0	56	0		9.375078e-01	8.842918e-01	0	10	0	149	0	5	201
FAM63B	54629	broad.mit.edu	37	15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	176										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						CCTGGACTCTCTGGAGTCGTT	0.647																																						ENST00000559228.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				15						c.(526-528)Ctg>Atg		family with sequence similarity 63, member B							23.0	25.0	24.0					15																	59064120		1868	4095	5963	SO:0001583	missense	54629	1	120562	38				g.chr15:59064120C>A	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.526C>A	chr15.hg19:g.59064120C>A	ENSP00000452885:p.Leu176Met	0					FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M|RP11-30K9.6_ENST00000500929.2_lincRNA	p.L176M			0	1	1	1.989262	Q8NBR6	FA63B_HUMAN		1	608	+			B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	1	1	hg19	c.526C>A	CCDS42046.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513697	0.85389	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60040	0.22	3.79	3.79	0.43588	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.62048	0.2396	N	0.24115	0.695	0.48901	D	0.999725	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.62803	-0.6777	10	0.34782	T	0.22	-22.5119	15.8313	0.78752	0.0:1.0:0.0:0.0	.	176;176	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	176	ENSP00000393231:L176M	ENSP00000326194:L176M	L	+	1	2	2	FAM63B	56851412	56851412	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	2.083000	0.41615	1.938000	0.56188	0.543000	0.68304	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_019092			38	36		207	199	1		1	1		0	0	42	0		1	8.151783e-01	0	3	0	16	0	38	207
RNF111	54778	broad.mit.edu	37	15	59323801	59323801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000557998.1	+	2	1067	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000348370.4_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000559209.1_Silent_p.D260D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	260	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)			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)		GTGAGAATGACCTCAGCAGTG	0.413																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000557998.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(778-780)gaC>gaT		ring finger protein 111							134.0	131.0	132.0					15																	59323801		2192	4291	6483	SO:0001819	synonymous_variant	54778	0	0					g.chr15:59323801C>T	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.780C>T	chr15.hg19:g.59323801C>T		0					RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000348370.4_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D	p.D260D	NM_001270530.1	NP_001257459.1	0	1	1	1.989262	Q6ZNA4	RN111_HUMAN		2	1067	+			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	1	1	hg19	c.780C>T	CCDS58366.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_017610			96	93		516	507	0		1	1		0	0	111	0		1	9.998525e-01	0	18	0	51	0	96	516
RNF111	54778	broad.mit.edu	37	15	59344625	59344625	+	Silent	SNP	C	C	T	rs376450850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000557998.1	+	3	1289	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000348370.4_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000559209.1_Silent_p.S334S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	334	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)			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)		TTGGAGAAAGCTATCGGTGAG	0.313																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000557998.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1000-1002)agC>agT		ring finger protein 111							101.0	90.0	94.0					15																	59344625		2192	4291	6483	SO:0001819	synonymous_variant	54778	0	0					g.chr15:59344625C>T	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.1002C>T	chr15.hg19:g.59344625C>T		0					RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000348370.4_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S	p.S334S	NM_001270530.1	NP_001257459.1	0	1	1	1.989262	Q6ZNA4	RN111_HUMAN		3	1289	+			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	1	1	hg19	c.1002C>T	CCDS58366.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_017610			71	69		273	271	1		1	1		0	0	54	0		1	9.996496e-01	0	12	0	36	0	71	273
RNF111	54778	broad.mit.edu	37	15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000557998.1	+	7	2183	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000348370.4_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	632	Pro-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)			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)		CCCAGCCCCAGCCCCCTCCAC	0.507																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000557998.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1894-1896)caG>caT		ring finger protein 111							98.0	105.0	103.0					15																	59368362		2192	4291	6483	SO:0001583	missense	54778	0	0					g.chr15:59368362G>T	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.1896G>T	chr15.hg19:g.59368362G>T	ENSP00000452732:p.Gln632His	0					RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000348370.4_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H	p.Q632H	NM_001270530.1	NP_001257459.1	0	1	1	1.989262	Q6ZNA4	RN111_HUMAN		7	2183	+			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	1	1	hg19	c.1896G>T	CCDS58366.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353369	0.61293	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.27	5.55	3.69	0.42338	5.55	3.69	0.42338	.	0.060419	0.64402	D	0.000002	T	0.19327	0.0464	N	0.24115	0.695	0.44366	D	0.99726	D;D;D	0.64830	0.993;0.989;0.994	P;P;P	0.62740	0.891;0.781;0.906	T	0.07693	-1.0759	10	0.34782	T	0.22	-11.2479	4.6727	0.12698	0.2388:0.0:0.608:0.1532	.	632;632;632	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	632	ENSP00000288199:Q632H;ENSP00000393641:Q632H	ENSP00000288199:Q632H	Q	+	3	2	2	RNF111	57155654	57155654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.639000	0.37176	0.831000	0.34780	-0.259000	0.10710	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_017610			126	120		676	660	1		1	1		0	0	143	0		1	9.999690e-01	0	13	0	67	0	126	676
CCNB2	9133	broad.mit.edu	37	15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	32					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353																																						ENST00000288207.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(94-96)cGa>cAa		cyclin B2							78.0	77.0	77.0					15																	59399591		2191	4291	6482	SO:0001583	missense	9133	0	0					g.chr15:59399591G>A	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.95G>A	chr15.hg19:g.59399591G>A	ENSP00000288207:p.Arg32Gln	0					CCNB2_ENST00000559622.1_Intron	p.R32Q	NM_004701.3	NP_004692.1	0	1	1	1.989262	O95067	CCNB2_HUMAN		2	286	+			B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	1	1	hg19	c.95G>A	CCDS10170.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565353	0.65651	.	.	ENSG00000157456	ENST00000288207	T	0.22539	1.95	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	15.4855	0.75564	0.0:0.0:1.0:0.0	.	32	O95067	CCNB2_HUMAN	Q	32	ENSP00000288207:R32Q	ENSP00000288207:R32Q	R	+	2	0	0	CCNB2	57186883	57186883	1.000000	0.71417	0.356000	0.25785	0.461000	0.32589	6.531000	0.73820	2.410000	0.81850	0.563000	0.77884	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.460589	1	0.170000	NM_004701			63	63		261	261	1		1	1		0	0	60	0		1	9.963301e-01	0	15	0	23	0	63	261
BNIP2	663	broad.mit.edu	37	15	59964895	59964895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000607373.1	-	6	718	c.516C>T	c.(514-516)gtC>gtT	p.V172V	BNIP2_ENST00000415213.2_Silent_p.V234V|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000267859.3_Silent_p.V293V	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	172	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333																																					Ovarian(174;1936 1978 6671 8240 38212)	ENST00000607373.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999879	0.990000	1.000000																										0				9						c.(514-516)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 2							101.0	101.0	101.0					15																	59964895		2190	4290	6480	SO:0001819	synonymous_variant	663	0	0					g.chr15:59964895G>A	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.516C>T	chr15.hg19:g.59964895G>A		0					AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000267859.3_Silent_p.V293V	p.V172V	NM_004330.2	NP_004321.2	0	1	1	1.989262	Q12982	BNIP2_HUMAN		6	718	-			B4DS94	Silent	SNP	ENST00000607373.1	1	1	hg19	c.516C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-17.795960	1	0.170000	NM_004330			40	40		257	250	1		1	1		0	0	69	0		1	1	0	50	0	151	0	40	257
FOXB1	27023	broad.mit.edu	37	15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	133					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721																																						ENST00000396057.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				6						c.(397-399)gCc>gTc		forkhead box B1							7.0	8.0	7.0					15																	60297560		2055	4057	6112	SO:0001583	missense	27023	0	0					g.chr15:60297560C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.398C>T	chr15.hg19:g.60297560C>T	ENSP00000379369:p.Ala133Val	0					FOXB1_ENST00000560857.1_Intron	p.A133V	NM_012182.2	NP_036314.2	0	1	1	1.989262	Q99853	FOXB1_HUMAN		2	877	+			O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	1	1	hg19	c.398C>T	CCDS32255.1	1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846310	0.71603	.	.	ENSG00000171956	ENST00000396057	D	0.96300	-3.97	4.11	4.11	0.48088	4.11	4.11	0.48088	.	0.273372	0.31370	U	0.007767	D	0.94218	0.8144	L	0.55481	1.735	0.58432	D	0.999999	B	0.26744	0.158	B	0.26864	0.074	D	0.92964	0.6391	10	0.38643	T	0.18	.	15.073	0.72053	0.0:1.0:0.0:0.0	.	133	Q99853	FOXB1_HUMAN	V	133	ENSP00000379369:A133V	ENSP00000379369:A133V	A	+	2	0	0	FOXB1	58084852	58084852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.091000	0.63221	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-20.000000	1	0.170000				24	22		103	102	0		1			0	0	21	0		9.999998e-01	0	0	0	0	0	0	24	103
ICE2	79664	broad.mit.edu	37	15	60720793	60720793	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60720793T>G	ENST00000261520.4	-	15	2889	c.2655A>C	c.(2653-2655)gcA>gcC	p.A885A	NARG2_ENST00000439632.1_Silent_p.A748A	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAATTGTATGCTGTCCTAG	0.428																																						ENST00000261520.4	0.530000	0.120000	4.100000e-01	1.900000e-01	0.280000	0.308169	0.280000	0.270000																										0				32						c.(2653-2655)gcA>gcC									78.0	76.0	77.0					15																	60720793		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr15:60720793T>G																												ENST00000261520.4:c.2655A>C	chr15.hg19:g.60720793T>G		0					NARG2_ENST00000439632.1_Silent_p.A748A	p.A885A	NM_024611.4	NP_078887.2	0	1	1	1.989262				15	2889	-				Silent	SNP	ENST00000261520.4	0	1	hg19	c.2655A>C	CCDS10176.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-8.248938	1	0.170000				7	7		290	287	0		1	0		0	0	56	0		9.802314e-01	4.050020e-01	0	1	0	52	0	7	290
ICE2	79664	broad.mit.edu	37	15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A	rs531287375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		12634	0.0		0.0	False		,,,				2504	0.001					ENST00000261520.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.995801	0.990000	1.000000																										0				32						c.(2533-2535)Ctc>Ttc									53.0	61.0	58.0					15																	60724161		2199	4285	6484	SO:0001583	missense	0	3	121348	36				g.chr15:60724161G>A																												ENST00000261520.4:c.2533C>T	chr15.hg19:g.60724161G>A	ENSP00000261520:p.Leu845Phe	0					NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	p.L845F	NM_024611.4	NP_078887.2	0	1	1	1.989262				14	2767	-				Missense_Mutation	SNP	ENST00000261520.4	1	1	hg19	c.2533C>T	CCDS10176.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102634	0.76983	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.146650	0.47455	D	0.000237	T	0.77384	0.4122	M	0.65498	2.005	0.45118	D	0.998131	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	9	0.87932	D	0	-9.5329	15.8264	0.78709	0.0:0.0:1.0:0.0	.	845	Q659A1	NARG2_HUMAN	F	845;708	.	ENSP00000261520:L845F	L	-	1	0	0	NARG2	58511453	58511453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.639000	0.89480	0.650000	0.86243	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-9.815012	1	0.170000				17	17		112	111	1		1	1		0	0	32	0		9.999752e-01	9.993806e-01	0	28	0	57	0	17	112
ICE2	79664	broad.mit.edu	37	15	60741867	60741867	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428																																						ENST00000261520.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1297-1299)acA>acC									157.0	133.0	141.0					15																	60741867		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr15:60741867T>G																												ENST00000261520.4:c.1299A>C	chr15.hg19:g.60741867T>G		0					NARG2_ENST00000439632.1_Silent_p.T296T	p.T433T	NM_024611.4	NP_078887.2	0	1	1	1.989262				10	1533	-				Silent	SNP	ENST00000261520.4	1	1	hg19	c.1299A>C	CCDS10176.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000				144	141		532	524	1		1	1		0	0	144	0		1	9.999997e-01	0	17	0	63	0	144	532
ICE2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000561114.1_Missense_Mutation_p.I178S|NARG2_ENST00000439632.1_Missense_Mutation_p.I41S	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303																																						ENST00000261520.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				32						c.(532-534)aTt>aGt									44.0	50.0	48.0					15																	60748989		2200	4295	6495	SO:0001583	missense	0	0	0					g.chr15:60748989A>C																												ENST00000261520.4:c.533T>G	chr15.hg19:g.60748989A>C	ENSP00000261520:p.Ile178Ser	0					NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	p.I178S	NM_024611.4	NP_078887.2	0	1	1	1.989262				6	767	-				Missense_Mutation	SNP	ENST00000261520.4	1	1	hg19	c.533T>G	CCDS10176.1	1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	0	NARG2	58536281	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				35	35		208	203	1		1	1		0	0	66	0		1	8.735727e-01	0	7	0	17	0	35	208
RORA	6095	broad.mit.edu	37	15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	202	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612																																						ENST00000335670.6	1.000000	0.690000	1	7.900000e-01	0.900000	0.901304	0.900000	1.000000																										0				21						c.(604-606)Aac>Gac		RAR-related orphan receptor A							205.0	151.0	169.0					15																	60803641		2203	4300	6503	SO:0001583	missense	6095	0	0					g.chr15:60803641T>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.604A>G	chr15.hg19:g.60803641T>C	ENSP00000335087:p.Asn202Asp	0					RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559902.1_RNA	p.N202D	NM_134261.2	NP_599023.1	0	1	1	1.989262	P35398	RORA_HUMAN		5	704	-			P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	1	1	hg19	c.604A>G	CCDS10177.1	1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184127	0.57800	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	4.78	0.61160	5.9	4.78	0.61160	.	0.345548	0.38111	N	0.001813	T	0.79003	0.4373	N	0.02539	-0.55	0.34849	D	0.741446	B;B;B;B	0.33022	0.016;0.005;0.394;0.0	B;B;B;B	0.27076	0.05;0.037;0.076;0.001	T	0.78861	-0.2037	10	0.13470	T	0.59	.	9.0528	0.36387	0.0:0.1401:0.0:0.8599	.	202;227;235;147	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	D	202;147;227;235	ENSP00000335087:N202D;ENSP00000402971:N147D;ENSP00000309753:N227D;ENSP00000261523:N235D	ENSP00000261523:N235D	N	-	1	0	0	RORA	58590933	58590933	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.728000	0.54991	1.059000	0.40554	0.528000	0.53228	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000				52	52		615	604	0		1	1		0	0	113	0		1	7.552972e-01	0	3	0	31	0	52	615
VPS13C	54832	broad.mit.edu	37	15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											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						GCAGAAAGCCCTTTCCTCCTC	0.408																																						ENST00000261517.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(10564-10566)aaG>aaT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							181.0	178.0	179.0					15																	62165457		2203	4300	6503	SO:0001583	missense	54832	0	0					g.chr15:62165457C>A	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.10566G>T	chr15.hg19:g.62165457C>A	ENSP00000261517:p.Lys3522Asn	0					VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000558919.1_5'Flank	p.K3522N	NM_020821.2	NP_065872.1	0	1	1	1.989262				78	10639	-				Missense_Mutation	SNP	ENST00000261517.5	1	1	hg19	c.10566G>T	CCDS32257.1	1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544169	0.65198	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53857	0.6;0.6;0.78	6.02	2.0	0.26442	6.02	2.0	0.26442	Autophagy-related, C-terminal (1);	0.050323	0.85682	D	0.000000	T	0.66356	0.2781	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	D;D;D;D	0.76575	0.972;0.972;0.988;0.984	T	0.63301	-0.6668	10	0.39692	T	0.17	.	10.0938	0.42462	0.0:0.5936:0.0:0.4064	.	3479;3522;3479;3522	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	3479;3522;3522;3522	ENSP00000249837:K3479N;ENSP00000261517:K3522N;ENSP00000379233:K3522N	ENSP00000249837:K3479N	K	-	3	2	2	VPS13C	59952749	59952749	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.282000	0.33226	0.423000	0.26033	0.655000	0.94253	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-3.462767	1	0.170000	NM_017684			211	208		884	863	1		1	1		0	0	184	0		1	1	0	59	0	199	0	211	884
VPS13C	54832	broad.mit.edu	37	15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											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						TTTTTAAGTTCTGATCCTTTC	0.333																																						ENST00000261517.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(2686-2688)Gaa>Aaa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							136.0	134.0	135.0					15																	62264895		2203	4300	6503	SO:0001583	missense	54832	0	0					g.chr15:62264895C>T	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.2686G>A	chr15.hg19:g.62264895C>T	ENSP00000261517:p.Glu896Lys	0					VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	p.E896K	NM_020821.2	NP_065872.1	0	1	1	1.989262				27	2759	-				Missense_Mutation	SNP	ENST00000261517.5	1	1	hg19	c.2686G>A	CCDS32257.1	1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599160	0.28534	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.357258	0.26796	N	0.022455	T	0.18676	0.0448	L	0.50333	1.59	0.43394	D	0.99551	B;B;B;B	0.30973	0.302;0.152;0.185;0.004	B;B;B;B	0.23852	0.036;0.036;0.049;0.007	T	0.02766	-1.1113	10	0.28530	T	0.3	.	19.3229	0.94250	0.0:1.0:0.0:0.0	.	853;896;853;896	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	853;896;896;896	ENSP00000249837:E853K;ENSP00000261517:E896K;ENSP00000379233:E896K	ENSP00000249837:E853K	E	-	1	0	0	VPS13C	60052187	60052187	0.889000	0.30405	0.955000	0.39395	0.506000	0.33950	3.224000	0.51238	2.642000	0.89623	0.591000	0.81541	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_017684			77	75		375	373	1		1	1		0	0	96	0		1	9.959931e-01	0	10	0	33	0	77	375
VPS13C	54832	broad.mit.edu	37	15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											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						TTGCCCAGACCGAATCACCTG	0.373																																						ENST00000261517.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999699	0.990000	1.000000																										0				117						c.(1360-1362)cGg>cTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							114.0	119.0	117.0					15																	62283994		2203	4300	6503	SO:0001583	missense	54832	0	0					g.chr15:62283994C>A	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.1361G>T	chr15.hg19:g.62283994C>A	ENSP00000261517:p.Arg454Leu	0					VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	p.R454L	NM_020821.2	NP_065872.1	0	1	1	1.989262				17	1434	-				Missense_Mutation	SNP	ENST00000261517.5	1	1	hg19	c.1361G>T	CCDS32257.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.49139	0.79;0.79;0.95	5.78	4.86	0.63082	5.78	4.86	0.63082	.	0.078555	0.48767	D	0.000166	T	0.56426	0.1984	M	0.69823	2.125	0.53688	D	0.999978	P;P;P;P	0.47350	0.894;0.798;0.798;0.696	P;P;B;B	0.48425	0.577;0.577;0.392;0.3	T	0.62163	-0.6912	10	0.66056	D	0.02	.	13.9353	0.64021	0.0:0.9261:0.0:0.0738	.	411;454;411;454	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	411;454;454;454	ENSP00000249837:R411L;ENSP00000261517:R454L;ENSP00000379233:R454L	ENSP00000249837:R411L	R	-	2	0	0	VPS13C	60071286	60071286	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.735000	0.62051	1.420000	0.47138	0.591000	0.81541	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-2.966611	1	0.170000	NM_017684			79	77		628	619	0		1	1		0	0	122	0		1	9.123184e-01	0	4	0	31	0	79	628
TLN2	83660	broad.mit.edu	37	15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T	rs201378780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2	1099	Ala-rich.				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)			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						ACATCCAAGGCGGTGGGCTCC	0.532																																						ENST00000561311.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				99						c.(3295-3297)gCg>gTg		talin 2		C	VAL/ALA	0,4406		0,0,2203	86.0	75.0	79.0		3296	4.3	0.5	15		79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLN2	NM_015059.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1099/2543	63019326	1,13005	2203	4300	6503	SO:0001583	missense	83660	7	121412	35				g.chr15:63019326C>T	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.3296C>T	chr15.hg19:g.63019326C>T	ENSP00000453508:p.Ala1099Val	0					TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V	p.A1099V			0	1	1	1.989262	Q9Y4G6	TLN2_HUMAN		27	3526	+			A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	0	1	hg19	c.3296C>T	CCDS32261.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569842	0.45798	0.0	1.16E-4	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.27	4.33	0.51752	5.27	4.33	0.51752	.	0.150976	0.64402	D	0.000013	T	0.18383	0.0441	M	0.66506	2.035	0.36145	D	0.84707	P	0.39601	0.68	B	0.31191	0.125	T	0.23297	-1.0192	10	0.33141	T	0.24	-7.9278	15.8286	0.78733	0.0:0.8591:0.1409:0.0	.	1099	Q9Y4G6	TLN2_HUMAN	V	1099	ENSP00000303476:A1099V	ENSP00000303476:A1099V	A	+	2	0	0	TLN2	60806618	60806618	1.000000	0.71417	0.531000	0.27976	0.411000	0.31082	6.092000	0.71414	1.300000	0.44818	0.650000	0.86243	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1		17	2	2	1		1	1	47		47	46	1	2.060000	-3.286293	1	0.170000				43	42		208	206	1		1	1		1	0	47	0		9.998947e-01	4.788903e-01	0	2	0	7	0	43	208
TLN2	83660	broad.mit.edu	37	15	63029241	63029241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1175	Ala-rich.				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)			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						CAAGCAGGCCCTGATTGCACC	0.547																																						ENST00000561311.1	1.000000	0.580000	1	7.300000e-01	0.910000	0.886296	0.910000	1.000000																										0				99						c.(3523-3525)Ctg>Ttg		talin 2							65.0	60.0	61.0					15																	63029241		2203	4300	6503	SO:0001819	synonymous_variant	83660	1	121412	27				g.chr15:63029241C>T	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.3523C>T	chr15.hg19:g.63029241C>T		0					TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR	p.L1175L			0	1	1	1.989262	Q9Y4G6	TLN2_HUMAN		28	3753	+			A6NLB8	Silent	SNP	ENST00000561311.1	1	1	hg19	c.3523C>T	CCDS32261.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-2.744779	1	0.170000				20	20		235	232	0		1	1		0	0	40	0		9.999956e-01	3.483922e-01	0	2	0	13	0	20	235
TLN2	83660	broad.mit.edu	37	15	63084884	63084884	+	Silent	SNP	C	C	A	rs199706459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2	1927					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)			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						TGGGCCACGGCTGTATCTTCC	0.612																																						ENST00000561311.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(5779-5781)ggC>ggA		talin 2							70.0	60.0	63.0					15																	63084884		2203	4300	6503	SO:0001819	synonymous_variant	83660	0	0					g.chr15:63084884C>A	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.5781C>A	chr15.hg19:g.63084884C>A		0					TLN2_ENST00000306829.6_Silent_p.G1927G	p.G1927G			0	1	1	1.989262	Q9Y4G6	TLN2_HUMAN		45	6011	+			A6NLB8	Silent	SNP	ENST00000561311.1	1	1	hg19	c.5781C>A	CCDS32261.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				57	56		208	206	1		1	1		0	0	57	0		1	9.877980e-01	0	8	0	20	0	57	208
TPM1	7168	broad.mit.edu	37	15	63356268	63356268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000403994.3	+	9	858	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000288398.6_Silent_p.L260L|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000334895.5_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	260					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CATAGACGAGCTGTACGCTCA	0.522																																						ENST00000403994.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999402	0.990000	1.000000																										0				4						c.(778-780)Ctg>Ttg		tropomyosin 1 (alpha)							113.0	86.0	95.0					15																	63356268		2203	4300	6503	SO:0001819	synonymous_variant	7168	0	0					g.chr15:63356268C>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.778C>T	chr15.hg19:g.63356268C>T		0					TPM1_ENST00000317516.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Silent_p.L260L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Silent_p.L224L	p.L260L	NM_001018005.1	NP_001018005.1	0	1	1	1.989262	P09493	TPM1_HUMAN		9	858	+			B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	1	1	hg19	c.778C>T	CCDS45273.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001018004			22	22		127	123	1		1	1		0	0	26	0		9.999991e-01	9.954446e-01	0	17	0	36	0	22	127
RAB8B	51762	broad.mit.edu	37	15	63551873	63551873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	154					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)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398																																						ENST00000321437.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999928	0.990000	1.000000																										0				9						c.(460-462)tcC>tcT		RAB8B, member RAS oncogene family							99.0	99.0	99.0					15																	63551873		2203	4300	6503	SO:0001819	synonymous_variant	51762	0	0					g.chr15:63551873C>T	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.462C>T	chr15.hg19:g.63551873C>T		0					RAB8B_ENST00000448330.2_Silent_p.S154S	p.S154S	NM_016530.2	NP_057614.1	0	1	1	1.989262	Q92930	RAB8B_HUMAN		6	618	+			Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	1	1	hg19	c.462C>T	CCDS10183.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.702005	1	0.170000	NM_016530			33	33		190	186	1		1	1		0	0	59	0		1	1	0	35	0	143	0	33	190
HERC1	8925	broad.mit.edu	37	15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					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)			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						ATGGGATGTGCTGTTCTGTAA	0.423																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(13279-13281)aGc>aAc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							124.0	113.0	116.0					15																	63916522		1886	4126	6012	SO:0001583	missense	8925	0	0					g.chr15:63916522C>T	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.13280G>A	chr15.hg19:g.63916522C>T	ENSP00000390158:p.Ser4427Asn	0						p.S4427N	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		72	13367	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.13280G>A	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614439	0.66672	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.20941	0.0504	N	0.22421	0.69	0.45762	D	0.998653	B	0.06786	0.001	B	0.04013	0.001	T	0.03095	-1.1073	10	0.30078	T	0.28	.	19.3238	0.94253	0.0:1.0:0.0:0.0	.	4427	Q15751	HERC1_HUMAN	N	4427	ENSP00000390158:S4427N	ENSP00000390158:S4427N	S	-	2	0	0	HERC1	61703575	61703575	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.797000	0.69087	2.614000	0.88457	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_003922			62	57		331	324	1		1	1		0	0	74	0		1	9.997992e-01	0	6	0	63	0	62	331
HERC1	8925	broad.mit.edu	37	15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C	rs2229746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4359					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)			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						GGTGGTGCTGTCCATGCAGCA	0.532																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(13075-13077)Aca>Gca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							81.0	86.0	85.0					15																	63920906		1987	4174	6161	SO:0001583	missense	8925	0	0					g.chr15:63920906T>C	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.13075A>G	chr15.hg19:g.63920906T>C	ENSP00000390158:p.Thr4359Ala	0						p.T4359A	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		70	13162	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.13075A>G	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648175	0.67358	.	.	ENSG00000103657	ENST00000443617	T	0.80033	-1.33	6.02	6.02	0.97574	6.02	6.02	0.97574	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.138522	0.47093	D	0.000242	T	0.74589	0.3736	L	0.40543	1.245	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.74751	-0.3559	10	0.72032	D	0.01	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	4359	Q15751	HERC1_HUMAN	A	4359	ENSP00000390158:T4359A	ENSP00000390158:T4359A	T	-	1	0	0	HERC1	61707959	61707959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.196000	0.72094	2.299000	0.77371	0.528000	0.53228	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_003922			53	53		213	210	0		1	1		0	0	45	0		1	9.966770e-01	0	9	0	29	0	53	213
HERC1	8925	broad.mit.edu	37	15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3783					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)			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						acaacagtttgcaagACAGAG	0.348																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999676	0.990000	1.000000																										0				132						c.(11347-11349)Caa>Taa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							66.0	60.0	62.0					15																	63935242		1862	4091	5953	SO:0001587	stop_gained	8925	0	0					g.chr15:63935242G>A	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.11347C>T	chr15.hg19:g.63935242G>A	ENSP00000390158:p.Gln3783*	0						p.Q3783*	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		59	11434	-			Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	0	1	hg19	c.11347C>T	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	G	52	19.959870	0.99925	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8081	0.57626	0.0:0.0:1.0:0.0	.	.	.	.	X	3783	.	ENSP00000390158:Q3783X	Q	-	1	0	0	HERC1	61722295	61722295	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.926000	0.75835	2.153000	0.67306	0.467000	0.42956	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-12.663270	1	0.170000	NM_003922			18	18		85	81	1		1	1		0	0	18	0		9.999859e-01	9.990023e-01	0	5	0	53	0	18	85
HERC1	8925	broad.mit.edu	37	15	63967220	63967220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T	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	2389					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)			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						GCACAGAAGCCGTCAGGCCTC	0.488																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(7165-7167)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							119.0	113.0	115.0					15																	63967220		2036	4195	6231	SO:0001819	synonymous_variant	8925	0	0					g.chr15:63967220C>T	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.7167G>A	chr15.hg19:g.63967220C>T		0					RP11-317G6.1_ENST00000559303.2_RNA	p.T2389T	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		38	7254	-			Q8IW65	Silent	SNP	ENST00000443617.2	1	1	hg19	c.7167G>A	CCDS45277.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-3.436787	1	0.170000	NM_003922			108	104		468	454	1		1	1		0	0	123	0		1	9.982032e-01	0	7	0	35	0	108	468
HERC1	8925	broad.mit.edu	37	15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1185					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)			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						TTGAGGAGTGTCCATTTCTAC	0.448																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999890	0.990000	1.000000																										0				132						c.(3553-3555)gAc>gCc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							68.0	66.0	66.0					15																	64017505		1998	4176	6174	SO:0001583	missense	8925	0	0					g.chr15:64017505T>G	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.3554A>C	chr15.hg19:g.64017505T>G	ENSP00000390158:p.Asp1185Ala	0						p.D1185A	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		18	3641	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.3554A>C	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564733	0.65651	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.287715	0.31450	N	0.007624	T	0.19886	0.0478	N	0.19112	0.55	0.54753	D	0.999989	B	0.24186	0.099	B	0.22601	0.04	T	0.03673	-1.1014	10	0.66056	D	0.02	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1185	Q15751	HERC1_HUMAN	A	1185	ENSP00000390158:D1185A	ENSP00000390158:D1185A	D	-	2	0	0	HERC1	61804558	61804558	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.187000	0.72039	2.199000	0.70637	0.528000	0.53228	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_003922			27	27		146	142	1		1	0		0	0	40	0		1	6.303512e-01	0	1	0	12	0	27	146
HERC1	8925	broad.mit.edu	37	15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1078					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)			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						AAAGGCCGAGCCACTGACACA	0.468																																						ENST00000443617.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996342	0.990000	1.000000																										0				132						c.(3232-3234)Gct>Act		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							69.0	70.0	70.0					15																	64019960		1932	4153	6085	SO:0001583	missense	8925	0	0					g.chr15:64019960C>T	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.3232G>A	chr15.hg19:g.64019960C>T	ENSP00000390158:p.Ala1078Thr	0						p.A1078T	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		17	3319	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.3232G>A	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857267	0.71834	.	.	ENSG00000103657	ENST00000443617	T	0.41758	0.99	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.27731	0.0682	N	0.12182	0.205	0.80722	D	1	P	0.43750	0.816	B	0.39068	0.289	T	0.05517	-1.0880	10	0.19147	T	0.46	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1078	Q15751	HERC1_HUMAN	T	1078	ENSP00000390158:A1078T	ENSP00000390158:A1078T	A	-	1	0	0	HERC1	61807013	61807013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_003922			27	26		202	196	1		1	0		0	0	69	0		1	2.977741e-01	0	1	0	8	0	27	202
HERC1	8925	broad.mit.edu	37	15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	899					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)			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						AGGGAGGCTACGTGGGTATGA	0.423																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(2695-2697)Gta>Ata		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							155.0	151.0	152.0					15																	64025296		1967	4156	6123	SO:0001583	missense	8925	0	0					g.chr15:64025296C>T	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.2695G>A	chr15.hg19:g.64025296C>T	ENSP00000390158:p.Val899Ile	0						p.V899I	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		14	2782	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.2695G>A	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458896	0.63401	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000006	T	0.36880	0.0983	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.07908	-1.0748	10	0.29301	T	0.29	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	899	Q15751	HERC1_HUMAN	I	899	ENSP00000390158:V899I	ENSP00000390158:V899I	V	-	1	0	0	HERC1	61812349	61812349	1.000000	0.71417	0.916000	0.36221	0.951000	0.60555	7.709000	0.84645	2.658000	0.90341	0.655000	0.94253	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_003922			94	92		426	415	1		1	0		0	0	128	0		1	7.490125e-01	0	0	0	14	0	94	426
HERC1	8925	broad.mit.edu	37	15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	373					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)			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						ACATAAACCTCACAGGTTTCG	0.448																																						ENST00000443617.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(1117-1119)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104.0	98.0	99.0					15																	64050478		1872	4114	5986	SO:0001583	missense	8925	0	0					g.chr15:64050478C>T	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.1117G>A	chr15.hg19:g.64050478C>T	ENSP00000390158:p.Glu373Lys	0						p.E373K	NM_003922.3	NP_003913.3	0	1	1	1.989262	Q15751	HERC1_HUMAN		4	1204	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.1117G>A	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.712006	0.96830	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.35	5.35	0.76521	5.35	5.35	0.76521	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	U	0.000001	D	0.88676	0.6501	L	0.37630	1.12	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62885	0.908;0.908	D	0.89424	0.3712	10	0.66056	D	0.02	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	373;373	C9JUT5;Q15751	.;HERC1_HUMAN	K	373	ENSP00000390158:E373K	ENSP00000390158:E373K	E	-	1	0	0	HERC1	61837531	61837531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.647000	0.89833	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_003922			43	43		171	168	1		1	1		0	0	48	0		1	6.819318e-01	0	2	0	9	0	43	171
FAM96A	84191	broad.mit.edu	37	15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000300030.3	-	2	527	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000557835.1_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	93					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343																																						ENST00000300030.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(277-279)gCg>gTg		family with sequence similarity 96, member A							74.0	68.0	70.0					15																	64380897		2203	4300	6503	SO:0001583	missense	84191	0	0					g.chr15:64380897G>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.278C>T	chr15.hg19:g.64380897G>A	ENSP00000300030:p.Ala93Val	0					FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V|FAM96A_ENST00000557835.1_Missense_Mutation_p.A93V	p.A93V	NM_032231.4	NP_115607.1	0	1	1	1.989262	Q9H5X1	FA96A_HUMAN		2	527	-			A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	1	1	hg19	c.278C>T	CCDS10189.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.099840	0.94197	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.057092	0.64402	N	0.000001	T	0.79695	0.4490	M	0.76727	2.345	0.80722	D	1	D;P	0.89917	1.0;0.892	D;B	0.91635	0.999;0.201	T	0.80522	-0.1345	9	0.62326	D	0.03	-22.9898	17.573	0.87940	0.0:0.0:1.0:0.0	.	93;93	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	V	93	.	ENSP00000300030:A93V	A	-	2	0	0	FAM96A	62167950	62167950	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.339000	0.96797	2.735000	0.93741	0.650000	0.86243	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.837010	1	0.170000	NM_032231			30	30		112	107	1		1	1		0	0	23	0		1	1	0	117	0	352	0	30	112
SNX1	6642	broad.mit.edu	37	15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T	rs11551154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000559844.1	+	2	272	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|Y_RNA_ENST00000364201.1_RNA			Q13596	SNX1_HUMAN	sorting nexin 1	86					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)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388																																						ENST00000559844.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				13						c.(256-258)caG>caT		sorting nexin 1							74.0	68.0	70.0					15																	64404870		2203	4300	6503	SO:0001583	missense	6642	0	0					g.chr15:64404870G>T	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.258G>T	chr15.hg19:g.64404870G>T	ENSP00000453785:p.Gln86His	0					SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000560829.1_5'UTR	p.Q86H			0	1	1	1.989262	Q13596	SNX1_HUMAN		2	272	+			A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	1	1	hg19	c.258G>T	CCDS32266.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138485	0.56936	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.46451	0.87;0.87;0.87	5.66	0.545	0.17190	5.66	0.545	0.17190	.	0.507362	0.16503	N	0.211577	T	0.45657	0.1353	L	0.29908	0.895	0.45403	D	0.998383	D;D;P;D	0.60575	0.972;0.988;0.934;0.972	P;D;P;P	0.72338	0.873;0.977;0.62;0.796	T	0.22138	-1.0225	10	0.34782	T	0.22	-4.0139	8.7912	0.34852	0.3806:0.0:0.6194:0.0	.	86;86;86;86	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	H	86	ENSP00000369638:Q86H;ENSP00000326668:Q86H;ENSP00000261889:Q86H	ENSP00000261889:Q86H	Q	+	3	2	2	SNX1	62191923	62191923	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.719000	0.25881	0.075000	0.16796	-0.258000	0.10820	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_003099			31	31		135	132	1		1	1		0	0	48	0		1	1	0	91	0	271	0	31	135
ZNF609	23060	broad.mit.edu	37	15	64915077	64915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	ENST00000326648.3	+	2	927	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	267						nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						CCTTTTGGTGCCAGTGGTCAA	0.512																																						ENST00000326648.3	0.620000	0.290000	5.300000e-01	3.600000e-01	0.430000	0.450534	0.430000	0.430000																										0				39						c.(799-801)Cca>Tca		zinc finger protein 609							200.0	177.0	185.0					15																	64915077		2203	4299	6502	SO:0001583	missense	23060	0	0					g.chr15:64915077C>T	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.799C>T	chr15.hg19:g.64915077C>T	ENSP00000316527:p.Pro267Ser	0						p.P267S	NM_015042.1	NP_055857.1	0	1	1	1.989262	O15014	ZN609_HUMAN		2	927	+			Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	1	1	hg19	c.799C>T	CCDS32270.1	0	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258531	0.23051	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.116785	0.64402	D	0.000009	T	0.41604	0.1166	L	0.31664	0.95	0.80722	D	1	P	0.36683	0.565	B	0.41917	0.37	T	0.14476	-1.0471	10	0.07030	T	0.85	-22.871	19.6299	0.95698	0.0:1.0:0.0:0.0	.	267	O15014	ZN609_HUMAN	S	267	ENSP00000316527:P267S	ENSP00000316527:P267S	P	+	1	0	0	ZNF609	62702130	62702130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.639000	0.89480	0.655000	0.94253	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	0	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-3.654053	1	0.170000	XM_042833			26	26		669	656	0		1	0		0	0	133	0		9.999999e-01	3.516262e-01	0	1	0	31	0	26	669
ZNF609	23060	broad.mit.edu	37	15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	347						nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						TGACTGCACACGACATGATTG	0.403																																						ENST00000326648.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1039-1041)Cga>Tga		zinc finger protein 609							259.0	213.0	229.0					15																	64962610		2203	4299	6502	SO:0001587	stop_gained	23060	0	0					g.chr15:64962610C>T	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.1039C>T	chr15.hg19:g.64962610C>T	ENSP00000316527:p.Arg347*	0					RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	p.R347*	NM_015042.1	NP_055857.1	0	1	1	1.989262	O15014	ZN609_HUMAN		3	1167	+			Q0D2I2	Nonsense_Mutation	SNP	ENST00000326648.3	0	1	hg19	c.1039C>T	CCDS32270.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.093044	0.97276	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.34	3.32	0.38043	5.34	3.32	0.38043	.	0.059257	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8235	13.6805	0.62481	0.2903:0.7097:0.0:0.0	.	.	.	.	X	347	.	ENSP00000316527:R347X	R	+	1	2	2	ZNF609	62749663	62749663	0.984000	0.35163	0.950000	0.38849	0.991000	0.79684	1.511000	0.35801	0.516000	0.28340	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	XM_042833			66	66		324	318	1		1	1		0	0	107	0		1	9.598005e-01	0	2	0	26	0	66	324
PIF1	80119	broad.mit.edu	37	15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542																																						ENST00000268043.4	1.000000	0.280000	8.200000e-01	4.200000e-01	0.600000	0.624929	0.600000	1.000000																										0				2						c.(1378-1380)Gcc>Acc		PIF1 5'-to-3' DNA helicase							45.0	41.0	43.0					15																	65111378		2202	4299	6501	SO:0001583	missense	80119	0	0					g.chr15:65111378C>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1378G>A	chr15.hg19:g.65111378C>T	ENSP00000268043:p.Ala460Thr	0					PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T	p.A460T			0	1	1	1.989262				9	1472	-				Missense_Mutation	SNP	ENST00000268043.4	1	1	hg19	c.1378G>A	CCDS10195.2	0	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716799	0.03206	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.76968	-1.06;-1.06	5.11	3.16	0.36331	5.11	3.16	0.36331	.	0.295485	0.36740	N	0.002427	T	0.50429	0.1615	N	0.03903	-0.33	0.26512	N	0.974573	B	0.17852	0.024	B	0.20384	0.029	T	0.35919	-0.9769	10	0.13470	T	0.59	-12.1785	7.4709	0.27349	0.1659:0.7433:0.0:0.0908	.	460	Q9H611	PIF1_HUMAN	T	460	ENSP00000268043:A460T;ENSP00000328174:A460T	ENSP00000268043:A460T	A	-	1	0	0	PIF1	62898431	62898431	1.000000	0.71417	0.342000	0.25602	0.133000	0.20885	4.742000	0.62103	0.606000	0.29965	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-10.744640	1	0.170000	NM_025049			8	8		152	150	0		1	0		0	0	37	0		9.894053e-01	1.867092e-02	0	0	0	4	0	8	152
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617																																						ENST00000268043.4	0.800000	0.330000	6.700000e-01	4.200000e-01	0.530000	0.554881	0.530000	0.530000																										0				2						c.(1285-1287)caG>caT		PIF1 5'-to-3' DNA helicase							68.0	60.0	62.0					15																	65112092		2202	4299	6501	SO:0001583	missense	80119	0	0					g.chr15:65112092C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1287G>T	chr15.hg19:g.65112092C>A	ENSP00000268043:p.Gln429His	0					PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H	p.Q429H			0	1	1	1.989262				8	1381	-				Missense_Mutation	SNP	ENST00000268043.4	1	1	hg19	c.1287G>T	CCDS10195.2	0	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884722	0.51908	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77489	-1.1;-1.1	5.62	4.7	0.59300	5.62	4.7	0.59300	.	0.047074	0.85682	D	0.000000	T	0.79305	0.4423	L	0.36672	1.1	0.40223	D	0.977751	D	0.69078	0.997	D	0.64410	0.925	T	0.79245	-0.1883	10	0.48119	T	0.1	-29.2408	8.5208	0.33275	0.0:0.8264:0.0:0.1736	.	429	Q9H611	PIF1_HUMAN	H	429	ENSP00000268043:Q429H;ENSP00000328174:Q429H	ENSP00000268043:Q429H	Q	-	3	2	2	PIF1	62899145	62899145	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	0.885000	0.28227	1.379000	0.46325	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-18.619980	1	0.170000	NM_025049			18	18		376	370	0		1	0		0	0	85	0		9.999807e-01	6.996282e-03	0	0	0	3	0	18	376
PLEKHO2	80301	broad.mit.edu	37	15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602																																						ENST00000323544.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1006-1008)Cca>Tca		pleckstrin homology domain containing, family O member 2							54.0	58.0	57.0					15																	65157620		2202	4299	6501	SO:0001583	missense	80301	0	0					g.chr15:65157620C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1006C>T	chr15.hg19:g.65157620C>T	ENSP00000326706:p.Pro336Ser	0					AC069368.3_ENST00000437723.1_Intron	p.P336S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	0	1	1	1.989262	Q8TD55	PKHO2_HUMAN		6	1134	+			Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	1	1	hg19	c.1006C>T	CCDS10196.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720908	0.15372	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.42	3.55	0.40652	5.42	3.55	0.40652	.	0.419926	0.26796	N	0.022445	T	0.19248	0.0462	N	0.20986	0.625	0.09310	N	1	B;P	0.43094	0.06;0.799	B;B	0.36845	0.032;0.234	T	0.09907	-1.0653	10	0.17369	T	0.5	.	8.1887	0.31354	0.0:0.8176:0.0:0.1824	.	286;336	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	336	ENSP00000326706:P336S	ENSP00000326706:P336S	P	+	1	0	0	PLEKHO2	62944673	62944673	0.004000	0.15560	0.010000	0.14722	0.008000	0.06430	1.931000	0.40134	0.662000	0.31006	0.655000	0.94253	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.054502	1	0.170000	NM_025201			56	56		276	268	1		1	1		0	0	72	0		1	9.999997e-01	0	11	0	101	0	56	276
ANKDD1A	348094	broad.mit.edu	37	15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000395723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	371					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502																																						ENST00000380230.3	1.000000	0.720000	1	9.200000e-01	0.990000	0.968466	0.990000	1.000000																										0				21						c.(1111-1113)aGc>aTc		ankyrin repeat and death domain containing 1A							98.0	83.0	88.0					15																	65236895		2202	4299	6501	SO:0001583	missense	348094	0	0					g.chr15:65236895G>T		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.1112G>T	chr15.hg19:g.65236895G>T	ENSP00000369579:p.Ser371Ile	0					ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000357698.3_Intron	p.S371I	NM_182703.3	NP_874362.3	0	1	1	1.989262	Q495B1	AKD1A_HUMAN		12	1141	+			Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	1	1	hg19	c.1112G>T	CCDS10197.2	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812775	0.32053	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.64991	-0.13;-0.13	5.23	4.33	0.51752	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.364418	0.26244	N	0.025498	T	0.48892	0.1525	L	0.41236	1.265	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.50276	-0.8847	10	0.56958	D	0.05	-23.632	4.8555	0.13557	0.1712:0.0:0.6581:0.1707	.	371	Q495B1	AKD1A_HUMAN	I	371	ENSP00000369579:S371I;ENSP00000379070:S371I	ENSP00000369579:S371I	S	+	2	0	0	ANKDD1A	63023948	63023948	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.578000	0.36525	1.456000	0.47831	0.591000	0.81541	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-19.999990	1	0.170000	NM_182703			18	18		163	160	0		1	0		0	0	51	0		9.999843e-01	4.649392e-01	0	1	0	14	0	18	163
MTFMT	123263	broad.mit.edu	37	15	65316129	65316129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000220058.4	-	3	436	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	141						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433																																						ENST00000220058.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(421-423)ggC>ggT		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						63.0	61.0	61.0					15																	65316129		1917	4130	6047	SO:0001819	synonymous_variant	123263	0	0					g.chr15:65316129G>A	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.423C>T	chr15.hg19:g.65316129G>A		0					MTFMT_ENST00000561025.1_Intron	p.G141G	NM_139242.3	NP_640335.2	0	1	1	1.989262	Q96DP5	FMT_HUMAN		3	436	-			B7Z734	Silent	SNP	ENST00000220058.4	1	1	hg19	c.423C>T	CCDS45280.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_139242			39	38		110	106	1		1	1		0	0	29	0		1	9.999323e-01	0	9	0	37	0	39	110
CLPX	10845	broad.mit.edu	37	15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	428					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398																																						ENST00000300107.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1282-1284)aGa>aAa		caseinolytic mitochondrial matrix peptidase chaperone subunit							132.0	128.0	129.0					15																	65448058		2202	4299	6501	SO:0001583	missense	10845	0	0					g.chr15:65448058C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1283G>A	chr15.hg19:g.65448058C>T	ENSP00000300107:p.Arg428Lys	0						p.R428K	NM_006660.3	NP_006651.2	0	1	1	1.989262	O76031	CLPX_HUMAN		10	1471	-			A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	1	1	hg19	c.1283G>A	CCDS10202.1	1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551455	0.45487	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.38240	1.15	5.98	5.98	0.97165	5.98	5.98	0.97165	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.02111	-0.68	0.80722	D	1	B	0.24132	0.098	B	0.34180	0.177	T	0.17592	-1.0364	10	0.05351	T	0.99	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	428	O76031	CLPX_HUMAN	K	428	ENSP00000300107:R428K	ENSP00000300107:R428K	R	-	2	0	0	CLPX	63235111	63235111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.838000	0.97847	0.591000	0.81541	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_006660			110	110		458	451	1		1	1		0	0	89	0		1	1	0	58	0	119	0	110	458
PARP16	54956	broad.mit.edu	37	15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000444347.2	-	2	687	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	PARP16_ENST00000261888.6_Missense_Mutation_p.G206S			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	206	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000444347.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				9						c.(271-273)Ggc>Agc		poly (ADP-ribose) polymerase family, member 16							82.0	64.0	70.0					15																	65555562		2201	4299	6500	SO:0001583	missense	54956	7	121412	36				g.chr15:65555562C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.271G>A	chr15.hg19:g.65555562C>T	ENSP00000396118:p.Gly91Ser	0					PARP16_ENST00000261888.6_Missense_Mutation_p.G206S	p.G91S			0	1	1	1.989262	Q8N5Y8	PAR16_HUMAN		2	687	-			Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	1	1	hg19	c.271G>A		1	.	.	.	.	.	.	.	.	.	.	C	35	5.460407	0.96240	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.61510	0.74;0.1	5.6	5.6	0.85130	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.989;0.993	T	0.68032	-0.5516	10	0.33141	T	0.24	-29.5579	18.6133	0.91294	0.0:1.0:0.0:0.0	.	206;91;206	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	S	206;91	ENSP00000261888:G206S;ENSP00000396118:G91S	ENSP00000261888:G206S	G	-	1	0	0	PARP16	63342615	63342615	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.133539	1	0.170000	NM_017851			31	30		157	154	1		1	1		0	0	41	0		1	9.977225e-01	0	21	0	30	0	31	157
PARP16	54956	broad.mit.edu	37	15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000444347.2	-	1	492	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|PARP16_ENST00000558873.1_Intron|SNORA24_ENST00000384176.1_RNA			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	26	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000444347.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999036	0.990000	1.000000																										0				9						c.(76-78)Ctc>Ttc		poly (ADP-ribose) polymerase family, member 16							8.0	10.0	9.0					15																	65578689		2173	4272	6445	SO:0001583	missense	54956	0	0					g.chr15:65578689G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.76C>T	chr15.hg19:g.65578689G>A	ENSP00000396118:p.Leu26Phe	0					PARP16_ENST00000558873.1_Intron|PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|SNORA24_ENST00000384176.1_RNA	p.L26F			0	1	1	1.989262	Q8N5Y8	PAR16_HUMAN		1	492	-			Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	0	1	hg19	c.76C>T		1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462976	0.26248	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.60171	0.43;0.21	3.29	-0.0327	0.13904	3.29	-0.0327	0.13904	.	0.234953	0.36482	N	0.002573	T	0.47322	0.1439	L	0.59436	1.845	0.28420	N	0.917767	B;B;B	0.28178	0.202;0.0;0.039	B;B;B	0.29663	0.105;0.003;0.049	T	0.41787	-0.9489	10	0.45353	T	0.12	-10.0549	6.6763	0.23095	0.4103:0.0:0.5897:0.0	.	26;26;26	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	F	26	ENSP00000261888:L26F;ENSP00000396118:L26F	ENSP00000261888:L26F	L	-	1	0	0	PARP16	63365742	63365742	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.199000	0.42715	0.131000	0.18576	-0.481000	0.04817	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_017851			16	16		82	82	0		1	1		0	0	9	0		9.999596e-01	5.694908e-01	0	3	0	8	0	16	82
IGDCC3	9543	broad.mit.edu	37	15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622																																						ENST00000327987.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1276-1278)cCt>cAt		immunoglobulin superfamily, DCC subclass, member 3							36.0	36.0	36.0					15																	65623869		2201	4299	6500	SO:0001583	missense	9543	0	0					g.chr15:65623869G>T	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.1277C>A	chr15.hg19:g.65623869G>T	ENSP00000332773:p.Pro426His	0					IGDCC3_ENST00000559231.1_5'UTR	p.P426H	NM_004884.3	NP_004875.2	0	1	1	1.989262	Q8IVU1	IGDC3_HUMAN		8	1528	-			O95215	Missense_Mutation	SNP	ENST00000327987.4	1	1	hg19	c.1277C>A	CCDS10205.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861591	0.51482	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59906	0.23	4.92	4.92	0.64577	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215894	0.41605	D	0.000857	T	0.78880	0.4353	M	0.85777	2.775	0.46849	D	0.999225	D	0.71674	0.998	D	0.70487	0.969	T	0.83357	-0.0000	10	0.87932	D	0	-10.6279	18.1374	0.89624	0.0:0.0:1.0:0.0	.	426	Q8IVU1	IGDC3_HUMAN	H	426;289	ENSP00000332773:P426H	ENSP00000332773:P426H	P	-	2	0	0	IGDCC3	63410922	63410922	1.000000	0.71417	0.948000	0.38648	0.318000	0.28184	4.402000	0.59722	2.241000	0.73720	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_004884			45	41		139	135	1		1			0	0	30	0		1	0	0	0	0	0	0	45	139
IGDCC4	57722	broad.mit.edu	37	15	65678349	65678349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	ENST00000352385.2	-	18	3209	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1000						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGTACAGCGCGGGATTCC	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999845	0.990000	1.000000																										0				44						c.(2998-3000)gcG>gcA		immunoglobulin superfamily, DCC subclass, member 4							7.0	9.0	8.0					15																	65678349		2163	4248	6411	SO:0001819	synonymous_variant	57722	0	0					g.chr15:65678349C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3000G>A	chr15.hg19:g.65678349C>T		0		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_ENST00000558048.1_5'Flank	p.A1000A	NM_020962.1	NP_066013.1	0	1	1	1.989262	Q8TDY8	IGDC4_HUMAN		18	3209	-			Q9HCE4	Silent	SNP	ENST00000352385.2	0	1	hg19	c.3000G>A	CCDS10206.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	0	1		2	2	2	0		0	0	20		20	12	1	2.060000	-20.000000	1	0.170000	NM_020962			18	14		76	62	0		1	0		0	0	20	0		9.999392e-01	2.605466e-01	0	1	0	4	0	18	76
IGDCC4	57722	broad.mit.edu	37	15	65682504	65682504	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	799	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532																																						ENST00000352385.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				44						c.(2395-2397)acC>acA		immunoglobulin superfamily, DCC subclass, member 4							74.0	71.0	72.0					15																	65682504		2201	4299	6500	SO:0001819	synonymous_variant	57722	0	0					g.chr15:65682504G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2397C>A	chr15.hg19:g.65682504G>T		0						p.T799T	NM_020962.1	NP_066013.1	0	1	1	1.989262	Q8TDY8	IGDC4_HUMAN		13	2606	-			Q9HCE4	Silent	SNP	ENST00000352385.2	1	1	hg19	c.2397C>A	CCDS10206.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	1		2	2	2	0		0	0	86		86	87	1	2.060000	-3.224545	1	0.170000	NM_020962			47	47		277	275	1		1	0		0	0	86	0		1	1.608592e-01	0	0	0	5	0	47	277
IGDCC4	57722	broad.mit.edu	37	15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	414	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701																																						ENST00000352385.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999876	0.990000	1.000000																										0				44						c.(1240-1242)gCg>gTg		immunoglobulin superfamily, DCC subclass, member 4							16.0	15.0	15.0					15																	65688258		2185	4277	6462	SO:0001583	missense	57722	0	0					g.chr15:65688258G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1241C>T	chr15.hg19:g.65688258G>A	ENSP00000319623:p.Ala414Val	0						p.A414V	NM_020962.1	NP_066013.1	0	1	1	1.989262	Q8TDY8	IGDC4_HUMAN		7	1450	-			Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	1	1	hg19	c.1241C>T	CCDS10206.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.67171	-0.25	4.45	4.45	0.53987	4.45	4.45	0.53987	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	N	0.11927	0.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65932	-0.6048	10	0.21014	T	0.42	-25.2419	17.4669	0.87635	0.0:0.0:1.0:0.0	.	414	Q8TDY8	IGDC4_HUMAN	V	414;143	ENSP00000319623:A414V	ENSP00000319623:A414V	A	-	2	0	0	IGDCC4	63475311	63475311	1.000000	0.71417	0.021000	0.16686	0.302000	0.27658	9.761000	0.98940	2.187000	0.69744	0.462000	0.41574	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_020962			16	16		57	50	0		1			0	0	19	0		9.999255e-01	0	0	0	0	0	0	16	57
IGDCC4	57722	broad.mit.edu	37	15	65688350	65688350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	383	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731																																						ENST00000352385.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998577	0.990000	1.000000																										0				44						c.(1147-1149)gtC>gtT		immunoglobulin superfamily, DCC subclass, member 4							11.0	10.0	10.0					15																	65688350		2156	4238	6394	SO:0001819	synonymous_variant	57722	0	0					g.chr15:65688350G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1149C>T	chr15.hg19:g.65688350G>A		0						p.V383V	NM_020962.1	NP_066013.1	0	1	1	1.989262	Q8TDY8	IGDC4_HUMAN		7	1358	-			Q9HCE4	Silent	SNP	ENST00000352385.2	0	1	hg19	c.1149C>T	CCDS10206.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	0		2	2	2	0		0	0	9		9	9	1	2.060000	-19.994560	1	0.170000	NM_020962			11	10		44	42	0		1			0	0	9	0		9.984982e-01	0	0	0	0	0	0	11	44
IGDCC4	57722	broad.mit.edu	37	15	65694733	65694733	+	Missense_Mutation	SNP	C	C	T	rs371134708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	ENST00000352385.2	-	4	865	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	219	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGTGCTGGCGAGCTGAGTT	0.622																																						ENST00000352385.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.991758	0.990000	1.000000																										0				44						c.(655-657)cGc>cAc		immunoglobulin superfamily, DCC subclass, member 4		C	HIS/ARG	1,4391		0,1,2195	37.0	33.0	35.0		656	-0.6	0.0	15		35	0,8590		0,0,4295	no	missense	IGDCC4	NM_020962.1	29	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	benign	219/1251	65694733	1,12981	2196	4295	6491	SO:0001583	missense	57722	5	119650	30				g.chr15:65694733C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.656G>A	chr15.hg19:g.65694733C>T	ENSP00000319623:p.Arg219His	0						p.R219H	NM_020962.1	NP_066013.1	0	1	1	1.989262	Q8TDY8	IGDC4_HUMAN		4	865	-			Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	0	1	hg19	c.656G>A	CCDS10206.1	1	.	.	.	.	.	.	.	.	.	.	C	5.100	0.204122	0.09704	2.28E-4	0.0	ENSG00000103742	ENST00000352385	T	0.67171	-0.25	5.4	-0.629	0.11533	5.4	-0.629	0.11533	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674300	0.15537	N	0.257185	T	0.43188	0.1236	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25502	-1.0130	10	0.33141	T	0.24	-1.3428	9.526	0.39165	0.0:0.4041:0.0:0.5959	.	219	Q8TDY8	IGDC4_HUMAN	H	219	ENSP00000319623:R219H	ENSP00000319623:R219H	R	-	2	0	0	IGDCC4	63481786	63481786	0.000000	0.05858	0.015000	0.15790	0.058000	0.15608	0.469000	0.22067	-0.005000	0.14395	-0.140000	0.14226	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-14.383650	1	0.170000	NM_020962			6	6		21	21	1		1	0		0	0	12	0		9.711907e-01	5.157855e-01	0	0	0	7	0	6	21
SLC24A1	9187	broad.mit.edu	37	15	65917907	65917907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	ENST00000261892.6	+	2	1776	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T	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	497					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.A497T(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAGGCGCCACATTCAT	0.557																																						ENST00000261892.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A497T(1)	endometrium(1)	23						c.(1489-1491)Gcc>Acc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							124.0	132.0	129.0					15																	65917907		2059	4222	6281	SO:0001583	missense	9187	2	120984	34				g.chr15:65917907G>A	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.1489G>A	chr15.hg19:g.65917907G>A	ENSP00000261892:p.Ala497Thr	0					SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T	p.A497T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	0	1	1	1.989262	O60721	NCKX1_HUMAN		2	1776	+			O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	1	1	hg19	c.1489G>A	CCDS45284.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.329097	0.95733	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.39	5.39	0.77823	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.90079	0.4169	10	0.87932	D	0	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	497;497;497;497;497	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	T	497	ENSP00000439693:A497T;ENSP00000261892:A497T;ENSP00000341837:A497T;ENSP00000445163:A497T;ENSP00000381991:A497T;ENSP00000439190:A497T	ENSP00000261892:A497T	A	+	1	0	0	SLC24A1	63704961	63704961	1.000000	0.71417	0.643000	0.29450	0.893000	0.52053	9.596000	0.98267	2.808000	0.96608	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	1	0	1		2	2	2	0		0	0	76		76	56	1	2.060000	-1.916362	0	0.170000	NM_004727			117	109		379	329	1		1	1		0	0	76	0		1	9.993873e-01	0	12	0	26	0	117	379
SLC24A1	9187	broad.mit.edu	37	15	65918300	65918300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	ENST00000261892.6	+	2	2169	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I	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	628					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)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTAGAAGACCTCAGCAAGGT	0.522																																						ENST00000261892.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1882-1884)Ctc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							82.0	79.0	80.0					15																	65918300		2017	4184	6201	SO:0001583	missense	9187	0	0					g.chr15:65918300C>A	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.1882C>A	chr15.hg19:g.65918300C>A	ENSP00000261892:p.Leu628Ile	0					SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I	p.L628I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	0	1	1	1.989262	O60721	NCKX1_HUMAN		2	2169	+			O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	1	1	hg19	c.1882C>A	CCDS45284.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957923	0.53400	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.69306	0.01;-0.37;-0.21;0.11;-0.39;-0.21	5.53	1.53	0.23141	5.53	1.53	0.23141	.	0.867616	0.10298	N	0.691508	T	0.65354	0.2683	M	0.73598	2.24	0.21386	N	0.999701	P;B;B;P;P	0.46912	0.583;0.447;0.447;0.886;0.885	B;B;B;B;B	0.44163	0.14;0.066;0.066;0.425;0.443	T	0.53337	-0.8453	10	0.38643	T	0.18	.	6.1408	0.20259	0.1316:0.6591:0.0:0.2094	.	628;628;628;628;628	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	I	628	ENSP00000439693:L628I;ENSP00000261892:L628I;ENSP00000341837:L628I;ENSP00000445163:L628I;ENSP00000381991:L628I;ENSP00000439190:L628I	ENSP00000261892:L628I	L	+	1	0	0	SLC24A1	63705354	63705354	0.989000	0.36119	0.744000	0.31058	0.611000	0.37282	0.712000	0.25779	0.137000	0.18759	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-2.901469	1	0.170000	NM_004727			75	73		348	337	1		1	1		0	0	89	0		1	9.892764e-01	0	7	0	28	0	75	348
DENND4A	10260	broad.mit.edu	37	15	65982789	65982789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	ENST00000431932.2	-	22	4219	c.4011G>T	c.(4009-4011)tgG>tgT	p.W1337C	DENND4A_ENST00000443035.3_Missense_Mutation_p.W1380C|DENND4A_ENST00000567323.1_5'UTR	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					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)			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						ATCTTGAATACCATTTGCTTG	0.373																																						ENST00000431932.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999311	0.990000	1.000000																										0				51						c.(4009-4011)tgG>tgT		DENN/MADD domain containing 4A							125.0	115.0	118.0					15																	65982789		2008	4166	6174	SO:0001583	missense	10260	0	0					g.chr15:65982789C>A	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.4011G>T	chr15.hg19:g.65982789C>A	ENSP00000396830:p.Trp1337Cys	0					DENND4A_ENST00000443035.3_Missense_Mutation_p.W1380C|DENND4A_ENST00000567323.1_5'UTR	p.W1337C	NM_005848.3	NP_005839.3	0	1	1	1.989262	Q7Z401	MYCPP_HUMAN		22	4219	-			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	1	1	hg19	c.4011G>T	CCDS45285.1	1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147367	0.57151	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.07444	3.24;3.19	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	T	0.26122	0.0637	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.921;0.956	T	0.00184	-1.1944	10	0.62326	D	0.03	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	1380;1337	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1380;1337	ENSP00000391167:W1380C;ENSP00000396830:W1337C	ENSP00000396830:W1337C	W	-	3	0	0	DENND4A	63769843	63769843	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.684000	0.46951	2.576000	0.86940	0.650000	0.86243	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_005848			25	24		155	148	1		1	1		0	0	41	0		9.999998e-01	9.994103e-01	0	25	0	51	0	25	155
DENND4A	10260	broad.mit.edu	37	15	66007885	66007885	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	ENST00000431932.2	-	14	2092	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_ENST00000443035.3_Missense_Mutation_p.F628L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	628	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				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)			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						ATTCTTCAATGAAGCGAATAA	0.338																																						ENST00000431932.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999525	0.990000	1.000000																										0				51						c.(1882-1884)ttC>ttA		DENN/MADD domain containing 4A							80.0	73.0	75.0					15																	66007885		1829	4084	5913	SO:0001583	missense	10260	0	0					g.chr15:66007885G>T	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.1884C>A	chr15.hg19:g.66007885G>T	ENSP00000396830:p.Phe628Leu	0					DENND4A_ENST00000443035.3_Missense_Mutation_p.F628L	p.F628L	NM_005848.3	NP_005839.3	0	1	1	1.989262	Q7Z401	MYCPP_HUMAN		14	2092	-			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	0	1	hg19	c.1884C>A	CCDS45285.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583130	0.86748	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.72167	-0.63;-0.63	5.41	3.51	0.40186	5.41	3.51	0.40186	dDENN (3);	0.092891	0.85682	D	0.000000	D	0.83704	0.5312	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.99;0.998;0.995	D	0.85024	0.0913	10	0.87932	D	0	.	9.3824	0.38322	0.2213:0.0:0.7787:0.0	.	628;628;628	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	628	ENSP00000391167:F628L;ENSP00000396830:F628L	ENSP00000396830:F628L	F	-	3	2	2	DENND4A	63794939	63794939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.552000	0.53705	1.264000	0.44198	0.591000	0.81541	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_005848			16	16		73	72	0		1	1		0	0	27	0		9.999584e-01	9.956696e-01	0	14	0	31	0	16	73
DENND4A	10260	broad.mit.edu	37	15	66031062	66031062	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000431932.2	-	6	991	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000443035.3_Silent_p.T261T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	261	UDENN.				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)			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						CTGAGGCTCCAGTTAAAACAA	0.343																																						ENST00000431932.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(781-783)acT>acC		DENN/MADD domain containing 4A							102.0	99.0	100.0					15																	66031062		1815	4068	5883	SO:0001819	synonymous_variant	10260	0	0					g.chr15:66031062A>G	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.783T>C	chr15.hg19:g.66031062A>G		0					DENND4A_ENST00000443035.3_Silent_p.T261T	p.T261T	NM_005848.3	NP_005839.3	0	1	1	1.989262	Q7Z401	MYCPP_HUMAN		6	991	-			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	1	1	hg19	c.783T>C	CCDS45285.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_005848			74	73		329	320	1		1	1		0	0	101	0		1	9.980340e-01	0	15	0	29	0	74	329
DENND4A	10260	broad.mit.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	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)			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						CTAATATTTGCGGGGCGCCCA	0.358																																						ENST00000431932.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999371	0.990000	1.000000																										0				51						c.(385-387)Gca>Aca		DENN/MADD domain containing 4A							58.0	53.0	54.0					15																	66044893		1820	4069	5889	SO:0001583	missense	10260	0	0					g.chr15:66044893C>T	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.385G>A	chr15.hg19:g.66044893C>T	ENSP00000396830:p.Ala129Thr	0					DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	p.A129T	NM_005848.3	NP_005839.3	0	1	1	1.989262	Q7Z401	MYCPP_HUMAN		4	593	-			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	0	1	hg19	c.385G>A	CCDS45285.1	1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	0	DENND4A	63831947	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-11.875290	1	0.170000	NM_005848			17	16		85	83	0		1	1		0	0	15	0		9.999739e-01	9.494479e-01	0	7	0	21	0	17	85
RAB11A	8766	broad.mit.edu	37	15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	140					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)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378																																						ENST00000261890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(418-420)agA>agT		RAB11A, member RAS oncogene family							203.0	181.0	188.0					15																	66170283		2201	4299	6500	SO:0001583	missense	8766	0	0					g.chr15:66170283A>T	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.420A>T	chr15.hg19:g.66170283A>T	ENSP00000261890:p.Arg140Ser	0					RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S	p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	0	1	1	1.989262	P62491	RB11A_HUMAN		3	548	+			B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	1	1	hg19	c.420A>T	CCDS10212.1	1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732545	0.48939	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76578	-1.03;-1.03	5.59	4.4	0.53042	5.59	4.4	0.53042	Small GTP-binding protein domain (1);	0.045017	0.85682	D	0.000000	T	0.61813	0.2377	N	0.20328	0.56	0.53688	D	0.999975	B;B	0.14805	0.001;0.011	B;B	0.14023	0.002;0.01	T	0.61043	-0.7142	10	0.59425	D	0.04	.	7.7218	0.28736	0.7179:0.1441:0.0:0.138	.	140;140	B4DT13;P62491	.;RB11A_HUMAN	S	140	ENSP00000261890:R140S;ENSP00000405767:R140S	ENSP00000261890:R140S	R	+	3	2	2	RAB11A	63957337	63957337	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.411000	0.21115	2.132000	0.65825	0.533000	0.62120	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000				99	96		506	496	1		1	1		0	0	142	0		1	1	0	457	0	800	0	99	506
MEGF11	84465	broad.mit.edu	37	15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1035					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CGGCCCATTGGCAGGGCTCTG	0.483																																						ENST00000409699.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(3103-3105)gCc>gTc		multiple EGF-like-domains 11							135.0	131.0	132.0					15																	66190303		2201	4298	6499	SO:0001583	missense	84465	2	121408	35				g.chr15:66190303G>A	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.3104C>T	chr15.hg19:g.66190303G>A	ENSP00000386908:p.Ala1035Val	0					MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V	p.A1035V			0	1	1	1.989262	A6BM72	MEG11_HUMAN		23	3276	-			Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	1	1	hg19	c.3104C>T	CCDS10213.2	1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175873	0.57692	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.206026	0.23813	U	0.044314	T	0.81800	0.4899	N	0.22421	0.69	0.80722	D	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.057;0.121	T	0.80547	-0.1334	10	0.62326	D	0.03	.	17.9876	0.89159	0.0:0.0:1.0:0.0	.	1035;960	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	1035;960;1035;960	ENSP00000386908:A1035V;ENSP00000288745:A960V;ENSP00000414475:A1035V;ENSP00000378987:A960V	ENSP00000288745:A960V	A	-	2	0	0	MEGF11	63977357	63977357	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.576000	0.60915	2.713000	0.92767	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_032445			78	78		375	364	1		1			0	0	82	0		1	0	0	0	0	0	0	78	375
MEGF11	84465	broad.mit.edu	37	15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T	rs267604294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1014					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CTAGGTAGGTCGTATGCATTC	0.478																																						ENST00000409699.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(3040-3042)Gac>Aac		multiple EGF-like-domains 11							139.0	124.0	129.0					15																	66190367		2201	4299	6500	SO:0001583	missense	84465	1	121408	31				g.chr15:66190367C>T	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.3040G>A	chr15.hg19:g.66190367C>T	ENSP00000386908:p.Asp1014Asn	0					MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N	p.D1014N			0	1	1	1.989262	A6BM72	MEG11_HUMAN		23	3212	-			Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	1	1	hg19	c.3040G>A	CCDS10213.2	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838665	0.71373	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95103	-3.61;-3.5;-3.61;-3.5	5.03	4.12	0.48240	5.03	4.12	0.48240	.	0.000000	0.39020	U	0.001487	D	0.92064	0.7485	M	0.73217	2.22	0.80722	D	1	B;B	0.34255	0.445;0.374	B;B	0.20577	0.03;0.025	D	0.91630	0.5318	10	0.87932	D	0	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	1014;939	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	1014;939;1014;939	ENSP00000386908:D1014N;ENSP00000288745:D939N;ENSP00000414475:D1014N;ENSP00000378987:D939N	ENSP00000288745:D939N	D	-	1	0	0	MEGF11	63977421	63977421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.452000	0.52971	1.345000	0.45676	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-19.999800	1	0.170000	NM_032445			44	44		220	218	1		1			0	0	45	0		1	0	0	0	0	0	0	44	220
DIS3L	115752	broad.mit.edu	37	15	66607510	66607510	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66607510C>T	ENST00000319212.4	+	7	1001	c.951C>T	c.(949-951)gaC>gaT	p.D317D	DIS3L_ENST00000319194.5_Silent_p.D234D|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.D183D	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	317					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)			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						ATGACTGTGACGACAAGGCTT	0.498																																						ENST00000319212.4	0.500000	0.140000	4.000000e-01	2.000000e-01	0.290000	0.306595	0.290000	0.280000																										0				33						c.(949-951)gaC>gaT		DIS3 like exosome 3'-5' exoribonuclease							113.0	103.0	106.0					15																	66607510		2201	4299	6500	SO:0001819	synonymous_variant	115752	0	0					g.chr15:66607510C>T		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.951C>T	chr15.hg19:g.66607510C>T		0					RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.D183D|DIS3L_ENST00000319194.5_Silent_p.D234D	p.D317D	NM_001143688.1	NP_001137160.1	0	1	1	1.989262	Q8TF46	DI3L1_HUMAN		7	1001	+			Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	0	1	hg19	c.951C>T	CCDS45286.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-8.726091	1	0.170000	NM_133375			9	9		366	360	0		1	0		0	0	74	0		9.939205e-01	5.220772e-01	0	1	0	67	0	9	366
TIPIN	54962	broad.mit.edu	37	15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	198					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGTTGTTGCTCTTCTGTTAGG	0.373																																						ENST00000261881.4	1.000000	0.740000	1	8.800000e-01	0.990000	0.959735	0.990000	1.000000																										0				7						c.(592-594)Gag>Aag		TIMELESS interacting protein							113.0	105.0	108.0					15																	66633578		2201	4299	6500	SO:0001583	missense	54962	0	0					g.chr15:66633578C>T	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.592G>A	chr15.hg19:g.66633578C>T	ENSP00000261881:p.Glu198Lys	0					TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	p.E198K	NM_017858.2	NP_060328	0	1	1	1.989262	Q9BVW5	TIPIN_HUMAN		7	677	-			B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	1	1	hg19	c.592G>A	CCDS10215.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.441037	0.96168	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.32753	1.44;1.88	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.53933	-0.8368	10	0.72032	D	0.01	-11.8662	18.1069	0.89523	0.0:1.0:0.0:0.0	.	198	Q9BVW5	TIPIN_HUMAN	K	97;198	ENSP00000356682:E97K;ENSP00000261881:E198K	ENSP00000261881:E198K	E	-	1	0	0	TIPIN	64420632	64420632	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.448000	0.60027	2.530000	0.85305	0.557000	0.71058	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.075755	1	0.170000	NM_017858			34	34		345	334	1		1	1		0	0	86	0		1	9.216145e-01	0	12	0	34	0	34	345
MAP2K1	5604	broad.mit.edu	37	15	66729129	66729129	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	113	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)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCAGATCATAAGGGAGCTGCA	0.488																																						ENST00000307102.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(337-339)Agg>Cgg		mitogen-activated protein kinase kinase 1	Bosutinib(DB06616)|Trametinib(DB08911)						132.0	105.0	114.0					15																	66729129		2201	4299	6500	SO:0001819	synonymous_variant	5604	0	0					g.chr15:66729129A>C	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.337A>C	chr15.hg19:g.66729129A>C		0						p.R113R	NM_002755.3	NP_002746.1	0	1	1	1.989262	Q02750	MP2K1_HUMAN		3	868	+				Silent	SNP	ENST00000307102.5	1	1	hg19	c.337A>C	CCDS10216.1	1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539635	0.27563	.	.	ENSG00000169032	ENST00000425818	.	.	.	4.52	-3.33	0.04958	4.52	-3.33	0.04958	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	4	.	.	.	-26.682	14.717	0.69277	0.2366:0.7634:0.0:0.0	.	.	.	.	T	52	.	.	K	+	2	0	0	MAP2K1	64516183	64516183	0.932000	0.31603	0.982000	0.44146	0.993000	0.82548	0.554000	0.23407	-0.367000	0.08052	0.533000	0.62120	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				59	55		295	288	0		1	1		0	0	67	0		1	1	0	85	0	261	0	59	295
RPL4	6124	broad.mit.edu	37	15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000307961.6	-	10	1170	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SNAPC5_ENST00000395589.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000307979.7_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000566658.1_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.A266T	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	360					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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478																																						ENST00000307961.6	1.000000	0.460000	9.100000e-01	5.800000e-01	0.730000	0.748743	0.730000	1.000000																										0				17						c.(1078-1080)Gca>Aca		ribosomal protein L4							32.0	36.0	35.0					15																	66791951		2197	4288	6485	SO:0001583	missense	6124	0	0					g.chr15:66791951C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1078G>A	chr15.hg19:g.66791951C>T	ENSP00000311430:p.Ala360Thr	0					SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.A266T|SNAPC5_ENST00000563480.2_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000566658.1_5'Flank	p.A360T	NM_000968.3	NP_000959.2	0	1	1	1.989262	P36578	RL4_HUMAN		10	1170	-			A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	1	1	hg19	c.1078G>A	CCDS10218.1	0	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154500	0.06544	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	2.03	2.03	0.26663	2.03	2.03	0.26663	.	0.606515	0.15758	N	0.246053	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	9	0.18276	T	0.48	0.0827	4.5628	0.12168	0.0:0.6969:0.0:0.3031	.	360	P36578	RL4_HUMAN	T	360	.	ENSP00000311430:A360T	A	-	1	0	0	RPL4	64579005	64579005	0.024000	0.19004	0.023000	0.16930	0.045000	0.14185	1.306000	0.33505	1.048000	0.40298	0.313000	0.20887	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.997940	1	0.170000	NM_000968			19	19		284	277	0		1	1		0	0	44	0		9.999899e-01	1	0	684	0	7125	0	19	284
RPL4	6124	broad.mit.edu	37	15	66793365	66793365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66793365C>T	ENST00000307961.6	-	7	847	c.755G>A	c.(754-756)tGg>tAg	p.W252*	SNORD16_ENST00000362803.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	252					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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTTCAGTCCAAATGCAGAA	0.403																																						ENST00000307961.6	0.530000	0.150000	4.200000e-01	2.100000e-01	0.300000	0.323526	0.300000	0.290000																										0				17						c.(754-756)tGg>tAg		ribosomal protein L4							66.0	64.0	65.0					15																	66793365		2201	4299	6500	SO:0001587	stop_gained	6124	0	0					g.chr15:66793365C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.755G>A	chr15.hg19:g.66793365C>T	ENSP00000311430:p.Trp252*	0					RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA	p.W252*	NM_000968.3	NP_000959.2	0	1	1	1.989262	P36578	RL4_HUMAN		7	847	-			A8K502|P39029|Q4VBR0|Q969Z9	Nonsense_Mutation	SNP	ENST00000307961.6	0	1	hg19	c.755G>A	CCDS10218.1	0	.	.	.	.	.	.	.	.	.	.	C	43	10.289014	0.99376	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.5	4.58	0.56647	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9401	15.7932	0.78384	0.137:0.863:0.0:0.0	.	.	.	.	X	252	.	ENSP00000311430:W252X	W	-	2	0	0	RPL4	64580419	64580419	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	1.311000	0.45024	0.563000	0.77884	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	0	0	1		2	2	2	0		0	0	59		59	60	1	2.060000	-2.943443	1	0.170000	NM_000968			9	9		346	343	0		1	1		0	0	59	0		9.941419e-01	1	0	4	0	6586	0	9	346
RPL4	6124	broad.mit.edu	37	15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000307961.6	-	5	578	c.486G>T	c.(484-486)aaG>aaT	p.K162N	SNORD16_ENST00000362803.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.K68N|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	162					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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388																																						ENST00000307961.6	1.000000	0.610000	1	7.700000e-01	0.970000	0.911982	0.970000	1.000000																										0				17						c.(484-486)aaG>aaT		ribosomal protein L4							90.0	86.0	87.0					15																	66794186		2201	4299	6500	SO:0001583	missense	6124	0	0					g.chr15:66794186C>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.486G>T	chr15.hg19:g.66794186C>A	ENSP00000311430:p.Lys162Asn	0					RPL4_ENST00000568588.1_Missense_Mutation_p.K68N|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA	p.K162N	NM_000968.3	NP_000959.2	0	1	1	1.989262	P36578	RL4_HUMAN		5	578	-			A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	1	1	hg19	c.486G>T	CCDS10218.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725205	0.48833	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42744	1.35	0.80722	D	1	B;B	0.27351	0.017;0.176	B;B	0.32864	0.056;0.154	T	0.52396	-0.8581	9	0.32370	T	0.25	-19.9368	13.0628	0.59015	0.0:0.9239:0.0:0.0761	.	162;162	B4DFI6;P36578	.;RL4_HUMAN	N	162	.	ENSP00000311430:K162N	K	-	3	2	2	RPL4	64581240	64581240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.652000	0.90054	0.655000	0.94253	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-19.999990	1	0.170000	NM_000968			19	19		210	205	0		1	1		0	0	61	0		9.999908e-01	1	0	327	0	3665	0	19	210
ZWILCH	55055	broad.mit.edu	37	15	66807941	66807941	+	Silent	SNP	C	C	T	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000307897.5	+	4	659	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565960.1_3'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	93					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTCTACTGGCGAAAATGTTG	0.358																																						ENST00000307897.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				18						c.(277-279)ggC>ggT		zwilch kinetochore protein		C		0,4402		0,0,2201	104.0	99.0	101.0		279	-1.4	1.0	15	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZWILCH	NM_017975.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		93/592	66807941	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	55055	8	121412	37				g.chr15:66807941C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.279C>T	chr15.hg19:g.66807941C>T		0					RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000535141.2_5'UTR	p.G93G	NM_017975.3	NP_060445.3	0	1	1	1.989262	Q9H900	ZWILC_HUMAN		4	659	+			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	1	1	hg19	c.279C>T	CCDS10219.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.242776	1	0.170000	NM_017975			35	35		191	182	1		1	1		0	0	48	0		1	9.986069e-01	0	19	0	39	0	35	191
ZWILCH	55055	broad.mit.edu	37	15	66813472	66813472	+	Missense_Mutation	SNP	G	G	A	rs373537835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66813472G>A	ENST00000307897.5	+	7	1056	c.676G>A	c.(676-678)Gct>Act	p.A226T	ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	226					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AACTGCGATCGCTTTGGATAT	0.463																																						ENST00000307897.5	0.310000	0.150000	2.700000e-01	1.800000e-01	0.220000	0.232488	0.220000	0.230000																										0				18						c.(676-678)Gct>Act		zwilch kinetochore protein		A	THR/ALA	1,4401	825.8+/-416.5	0,1,2200	262.0	262.0	262.0		676	1.6	0.1	15		262	0,8598		0,0,4299	no	missense	ZWILCH	NM_017975.3	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	226/592	66813472	1,12999	2201	4299	6500	SO:0001583	missense	55055	4	121412	46				g.chr15:66813472G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.676G>A	chr15.hg19:g.66813472G>A	ENSP00000311429:p.Ala226Thr	0					RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T	p.A226T	NM_017975.3	NP_060445.3	0	1	1	1.989262	Q9H900	ZWILC_HUMAN		7	1056	+			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	1	1	hg19	c.676G>A	CCDS10219.1	0	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.529569	0.00951	2.27E-4	0.0	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.35236	1.32;1.32;1.32	5.63	1.56	0.23342	5.63	1.56	0.23342	.	0.391190	0.29059	N	0.013277	T	0.05456	0.0144	N	0.00119	-2.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.02654	T	1	-7.5116	4.4607	0.11665	0.5438:0.0:0.2255:0.2307	.	226	Q9H900	ZWILC_HUMAN	T	226;112;112	ENSP00000311429:A226T;ENSP00000402217:A112T;ENSP00000437749:A112T	ENSP00000311429:A226T	A	+	1	0	0	ZWILCH	64600526	64600526	0.116000	0.22171	0.128000	0.21923	0.053000	0.15095	1.114000	0.31196	0.079000	0.16929	-0.269000	0.10298	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	0	0	1		18	3	2	1		1	1	295		295	293	1	2.060000	-2.601059	1	0.170000	NM_017975			30	30		1525	1503	0		1	1		1	0	295	0		9.676669e-01	1.525080e-01	0	3	0	64	0	30	1525
LCTL	197021	broad.mit.edu	37	15	66844115	66844115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66844115C>A	ENST00000341509.5	-	11	1540	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	470					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAATCCATATCTATCTGAGTA	0.353																																						ENST00000341509.5	0.380000	0.130000	3.100000e-01	1.800000e-01	0.240000	0.252250	0.240000	0.240000																										0				32						c.(1408-1410)aGa>aTa		lactase-like							147.0	150.0	149.0					15																	66844115		2201	4299	6500	SO:0001583	missense	197021	0	0					g.chr15:66844115C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1409G>T	chr15.hg19:g.66844115C>A	ENSP00000343490:p.Arg470Ile	0					LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	p.R470I	NM_207338.2	NP_997221.2	0	1	1	1.989262	Q6UWM7	LCTL_HUMAN		11	1540	-			B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	0	1	hg19	c.1409G>T	CCDS10220.1	0	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622767	0.87460	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.50277	0.75;0.75	5.77	4.86	0.63082	5.77	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.041706	0.85682	D	0.000000	T	0.79358	0.4432	H	0.98612	4.28	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.86776	0.1976	10	0.87932	D	0	-21.9098	13.1925	0.59719	0.0:0.9231:0.0:0.0769	.	470	Q6UWM7	LCTL_HUMAN	I	297;470	ENSP00000445419:R297I;ENSP00000343490:R470I	ENSP00000343490:R470I	R	-	2	0	0	LCTL	64631169	64631169	1.000000	0.71417	0.786000	0.31890	0.980000	0.70556	5.469000	0.66749	1.439000	0.47511	0.655000	0.94253	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	0	0	1		2	2	2	0		0	0	142		142	140	1	2.060000	-2.952706	1	0.170000	NM_207338			15	16		721	714	0		1			0	0	142	0		9.998627e-01	0	0	0	0	0	0	15	721
LCTL	197021	broad.mit.edu	37	15	66857032	66857032	+	Silent	SNP	G	G	A	rs544840401	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	88					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D88D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		22426	0.0		0.0	False		,,,				2504	0.0031					ENST00000341509.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D88D(1)	large_intestine(1)	32						c.(262-264)gaC>gaT		lactase-like							192.0	125.0	148.0					15																	66857032		2201	4299	6500	SO:0001819	synonymous_variant	197021	18	121412	42				g.chr15:66857032G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.264C>T	chr15.hg19:g.66857032G>A		0					LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	p.D88D	NM_207338.2	NP_997221.2	0	1	1	1.989262	Q6UWM7	LCTL_HUMAN		2	395	-			B3KQY0	Silent	SNP	ENST00000341509.5	1	1	hg19	c.264C>T	CCDS10220.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_207338			78	75		286	284	0		1			0	0	57	0		1	0	0	0	0	0	0	78	286
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000261880.5	-	5	567	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K|AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403																																						ENST00000261880.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.E155*(1)	large_intestine(1)	9						c.(463-465)Gaa>Aaa		alpha- and gamma-adaptin binding protein							211.0	198.0	202.0					15																	67524224		1887	4126	6013	SO:0001583	missense	79719	0	0					g.chr15:67524224C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.463G>A	chr15.hg19:g.67524224C>T	ENSP00000261880:p.Glu155Lys	0					AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	p.E155K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	0	1	1	1.989262	Q6PD74	AAGAB_HUMAN		5	567	-			B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	1	1	hg19	c.463G>A	CCDS42050.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.306213	0.95629	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.55588	0.51;0.51	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	T	0.66819	0.2828	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.69639	-0.5091	10	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	155	Q6PD74	AAGAB_HUMAN	K	155;46	ENSP00000261880:E155K;ENSP00000440735:E46K	ENSP00000261880:E155K	E	-	1	0	0	AAGAB	65311278	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	1	0	1		2	2	2	0		0	0	204		204	203	1	2.060000	-20.000000	1	0.170000	NM_024666			151	147		680	656	1		1	1		0	0	204	0		1	1	0	72	0	156	0	151	680
IQCH	64799	broad.mit.edu	37	15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	448										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)		AGGACCTCCAGGAGGACTATT	0.428																																						ENST00000335894.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1342-1344)aGg>aTg		IQ motif containing H							151.0	131.0	138.0					15																	67665742		2201	4299	6500	SO:0001583	missense	64799	0	0					g.chr15:67665742G>T	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.1343G>T	chr15.hg19:g.67665742G>T	ENSP00000336861:p.Arg448Met	0					IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	p.R448M	NM_001031715.2	NP_001026885	0	1	1	1.989262	Q86VS3	IQCH_HUMAN		10	1409	+			A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	1	1	hg19	c.1343G>T	CCDS32273.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977290	0.53720	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.50277	0.76;0.8;0.75;0.79	5.95	5.04	0.67666	5.95	5.04	0.67666	.	0.091195	0.85682	D	0.000000	T	0.69333	0.3099	M	0.78637	2.42	0.29267	N	0.870963	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.961;0.977;0.982;0.997	T	0.69914	-0.5016	10	0.62326	D	0.03	0.0092	15.0812	0.72117	0.0677:0.0:0.9323:0.0	.	196;200;448;275	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	M	275;196;448;200	ENSP00000351617:R275M;ENSP00000444118:R196M;ENSP00000336861:R448M;ENSP00000353419:R200M	ENSP00000336861:R448M	R	+	2	0	0	IQCH	65452796	65452796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.251000	0.58778	1.520000	0.48965	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.279773	1	0.170000	NM_022784			73	72		318	314	1		1	1		0	0	62	0		1	3.160715e-01	0	3	0	3	0	73	318
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I|IQCH_ENST00000358767.3_Silent_p.I658I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										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)		TTCTCCAGATCTGTAGGGCCC	0.502																																						ENST00000335894.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2764-2766)atC>atA		IQ motif containing H							151.0	122.0	132.0					15																	67768123		2201	4299	6500	SO:0001819	synonymous_variant	64799	1	121412	35				g.chr15:67768123C>A	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.2766C>A	chr15.hg19:g.67768123C>A		0					IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I	p.I922I	NM_001031715.2	NP_001026885	0	1	1	1.989262	Q86VS3	IQCH_HUMAN		18	2832	+			A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	1	1	hg19	c.2766C>A	CCDS32273.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_022784			71	69		251	248	1		1	1		0	0	51	0		1	3.987007e-01	0	2	0	4	0	71	251
PIAS1	8554	broad.mit.edu	37	15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000249636.6	+	14	1865	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.D575Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	573	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463																																						ENST00000249636.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1717-1719)Gac>Tac		protein inhibitor of activated STAT, 1							88.0	86.0	87.0					15																	68479934		1914	4118	6032	SO:0001583	missense	8554	0	0					g.chr15:68479934G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1717G>T	chr15.hg19:g.68479934G>T	ENSP00000249636:p.Asp573Tyr	0					PIAS1_ENST00000545237.1_Missense_Mutation_p.D575Y	p.D573Y	NM_016166.1	NP_057250.1	0	1	1	1.989262	O75925	PIAS1_HUMAN		14	1865	+			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	1	1	hg19	c.1717G>T	CCDS45290.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831959	0.91036	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36878	1.24;1.23	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.134217	0.64402	D	0.000002	T	0.40372	0.1114	L	0.53249	1.67	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19484	-1.0304	10	0.87932	D	0	-7.6537	20.1731	0.98165	0.0:0.0:1.0:0.0	.	573	O75925	PIAS1_HUMAN	Y	573;575	ENSP00000249636:D573Y;ENSP00000438574:D575Y	ENSP00000249636:D573Y	D	+	1	0	0	PIAS1	66266988	66266988	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.122000	0.94380	2.768000	0.95171	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				70	70		338	336	1		1	1		0	0	63	0		1	1	0	87	0	195	0	70	338
PIAS1	8554	broad.mit.edu	37	15	68479978	68479978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000249636.6	+	14	1909	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	PIAS1_ENST00000545237.1_Silent_p.Q589Q	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502																																						ENST00000249636.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1759-1761)caG>caA		protein inhibitor of activated STAT, 1							87.0	84.0	85.0					15																	68479978		1959	4164	6123	SO:0001819	synonymous_variant	8554	0	0					g.chr15:68479978G>A	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1761G>A	chr15.hg19:g.68479978G>A		0					PIAS1_ENST00000545237.1_Silent_p.Q589Q	p.Q587Q	NM_016166.1	NP_057250.1	0	1	1	1.989262	O75925	PIAS1_HUMAN		14	1909	+			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	1	1	hg19	c.1761G>A	CCDS45290.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000				63	63		275	272	1		1	1		0	0	54	0		1	1	0	75	0	127	0	63	275
CLN6	54982	broad.mit.edu	37	15	68500636	68500636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500636G>T	ENST00000249806.5	-	7	935	c.778C>A	c.(778-780)Ctc>Atc	p.L260I	CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|CALML4_ENST00000395465.3_5'Flank|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000448060.2_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	260					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGAGGAAGAGGCCGTTGCTG	0.592																																						ENST00000249806.5	0.370000	0.120000	3.000000e-01	1.700000e-01	0.230000	0.242951	0.230000	0.230000																										0				7						c.(778-780)Ctc>Atc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							115.0	106.0	109.0					15																	68500636		2200	4298	6498	SO:0001583	missense	54982	0	0					g.chr15:68500636G>T	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.778C>A	chr15.hg19:g.68500636G>T	ENSP00000249806:p.Leu260Ile	0					CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank	p.L260I	NM_017882.2	NP_060352.1	0	1	1	1.989262	Q9NWW5	CLN6_HUMAN		7	935	-			A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	0	1	hg19	c.778C>A	CCDS10227.1	0	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428218	0.83667	.	.	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.95103	-3.61;-3.61;-3.61	5.24	4.32	0.51571	5.24	4.32	0.51571	.	0.074290	0.56097	D	0.000039	D	0.95345	0.8489	M	0.61703	1.905	0.44149	D	0.996948	D;P;D	0.59767	0.986;0.767;0.961	P;B;P	0.56278	0.795;0.439;0.616	D	0.94807	0.7975	10	0.51188	T	0.08	-32.0251	13.6395	0.62241	0.0752:0.0:0.9248:0.0	.	292;131;260	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	I	260;131;292	ENSP00000249806:L260I;ENSP00000393826:L131I;ENSP00000445770:L292I	ENSP00000249806:L260I	L	-	1	0	0	CLN6	66287690	66287690	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.041000	0.70988	1.204000	0.43247	0.462000	0.41574	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	0	0	0		2	2	2	0		0	0	105		105	104	1	2.060000	-3.346331	1	0.170000	NM_017882			13	13		655	638	0		1	1		0	0	105	0		9.994499e-01	7.153034e-01	0	3	0	123	0	13	655
CLN6	54982	broad.mit.edu	37	15	68500697	68500697	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000565471.1_Silent_p.F86F|CALML4_ENST00000395465.3_5'Flank|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000418702.2_Silent_p.F110F|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000564752.1_3'UTR	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	239					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607																																						ENST00000249806.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(715-717)ttC>ttT		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							75.0	64.0	68.0					15																	68500697		2200	4298	6498	SO:0001819	synonymous_variant	54982	3	121412	35				g.chr15:68500697G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.717C>T	chr15.hg19:g.68500697G>A		0					CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000565471.1_Silent_p.F86F|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000564752.1_3'UTR|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank	p.F239F	NM_017882.2	NP_060352.1	0	1	1	1.989262	Q9NWW5	CLN6_HUMAN		7	874	-			A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	1	1	hg19	c.717C>T	CCDS10227.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	1	0	0		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_017882			58	57		313	311	0		1	1		0	0	89	0		1	9.999998e-01	0	26	0	98	0	58	313
CORO2B	10391	broad.mit.edu	37	15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000566799.1	+	2	82	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	CORO2B_ENST00000543950.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	18					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612																																						ENST00000566799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R18Q(1)	large_intestine(1)	36						c.(52-54)cGg>cAg		coronin, actin binding protein, 2B							87.0	73.0	77.0					15																	68937536		2200	4298	6498	SO:0001583	missense	10391	0	0					g.chr15:68937536G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.53G>A	chr15.hg19:g.68937536G>A	ENSP00000454783:p.Arg18Gln	0					CORO2B_ENST00000543950.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q	p.R18Q			0	1	1	1.989262	Q9UQ03	COR2B_HUMAN		2	82	+			A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	1	1	hg19	c.53G>A	CCDS10229.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.338139	0.95758	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71817	-0.6;-0.6	4.38	4.38	0.52667	4.38	4.38	0.52667	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91793	0.5445	10	0.87932	D	0	-17.718	15.8812	0.79207	0.0:0.0:1.0:0.0	.	18	Q9UQ03	COR2B_HUMAN	Q	18;13;13	ENSP00000446250:R13Q;ENSP00000443819:R13Q	ENSP00000261861:R18Q	R	+	2	0	0	CORO2B	66724590	66724590	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.540000	0.98080	2.142000	0.66516	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.144805	1	0.170000	NM_006091			43	42		171	168	1		1	0		0	0	41	0		1	4.224270e-02	0	0	0	2	0	43	171
CORO2B	10391	broad.mit.edu	37	15	69006382	69006382	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000566799.1	+	6	794		c.e6+2		CORO2B_ENST00000543950.1_Splice_Site|CORO2B_ENST00000540068.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607																																						ENST00000566799.1	0.810000	0.220000	6.400000e-01	3.200000e-01	0.460000	0.487442	0.460000	0.430000																										0				36						c.e6+2		coronin, actin binding protein, 2B							58.0	46.0	50.0					15																	69006382		2200	4298	6498	SO:0001630	splice_region_variant	10391	0	0					g.chr15:69006382T>C	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.765+2T>C	chr15.hg19:g.69006382T>C		0					CORO2B_ENST00000543950.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000540068.1_Splice_Site				0	1	1	1.989262	Q9UQ03	COR2B_HUMAN		6	794	+			A8K0W3|O94767|Q8TAN1	Splice_Site	SNP	ENST00000566799.1	1	1	hg19		CCDS10229.2	0	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601805	0.87055	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3006	0.60324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CORO2B	66793436	66793436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.899000	0.87370	2.018000	0.59344	0.533000	0.62120	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-10.392900	1	0.170000	NM_006091	Intron		8	8		201	197	0		1			0	0	44	0		9.889376e-01	0	0	0	0	0	0	8	201
SPESP1	246777	broad.mit.edu	37	15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	337					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269																																						ENST00000310673.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1009-1011)Atg>Gtg		sperm equatorial segment protein 1							39.0	42.0	41.0					15																	69238882		1990	4140	6130	SO:0001583	missense	246777	0	0					g.chr15:69238882A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.1009A>G	chr15.hg19:g.69238882A>G	ENSP00000312284:p.Met337Val	0					NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	p.M337V	NM_145658.3	NP_663633.1	0	1	1	1.989262	Q6UW49	SPESP_HUMAN		2	1163	+			Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	1	1	hg19	c.1009A>G	CCDS10230.1	1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093309	0.01858	.	.	ENSG00000258484	ENST00000310673	T	0.18810	2.19	4.94	1.23	0.21249	4.94	1.23	0.21249	.	1.099980	0.07012	N	0.825205	T	0.09992	0.0245	N	0.14661	0.345	0.80722	D	1	B	0.32573	0.376	B	0.27887	0.084	T	0.33085	-0.9882	10	0.29301	T	0.29	-0.7718	2.6801	0.05091	0.5967:0.0:0.2104:0.1929	.	337	Q6UW49	SPESP_HUMAN	V	337	ENSP00000312284:M337V	ENSP00000312284:M337V	M	+	1	0	0	SPESP1	67025936	67025936	1.000000	0.71417	0.987000	0.45799	0.089000	0.18198	1.328000	0.33758	0.851000	0.35264	0.533000	0.62120	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_145658			64	61		231	228	1		1	0		0	0	58	0		1	4.814707e-02	0	0	0	2	0	64	231
NOX5	79400	broad.mit.edu	37	15	69323949	69323949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000388866.3	+	4	458	c.417C>A	c.(415-417)ggC>ggA	p.G139G	NOX5_ENST00000260364.5_Silent_p.G121G|NOX5_ENST00000530406.2_Silent_p.G111G|NOX5_ENST00000448182.3_Silent_p.G93G|NOX5_ENST00000455873.3_Silent_p.G104G|RP11-809H16.2_ENST00000557966.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	139	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				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)			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						CAGGCAGTGGCTCCATTGACC	0.662																																						ENST00000388866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(415-417)ggC>ggA		NADPH oxidase, EF-hand calcium binding domain 5							36.0	36.0	36.0					15																	69323949		2200	4298	6498	SO:0001819	synonymous_variant	79400	0	0					g.chr15:69323949C>A	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.417C>A	chr15.hg19:g.69323949C>A		0					NOX5_ENST00000260364.5_Silent_p.G121G|NOX5_ENST00000448182.3_Silent_p.G93G|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000530406.2_Silent_p.G111G	p.G139G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	0	1	1	1.989262	Q96PH1	NOX5_HUMAN		4	458	+			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	1	1	hg19	c.417C>A	CCDS32276.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_024505			37	37		164	162	1		1			0	0	32	0		1	0	0	0	0	0	0	37	164
NOX5	79400	broad.mit.edu	37	15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C	rs377391333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000388866.3	+	4	643	c.602T>C	c.(601-603)aTg>aCg	p.M201T	NOX5_ENST00000260364.5_Missense_Mutation_p.M183T|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|RP11-809H16.2_ENST00000557966.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	201					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)			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						CCCGGAGTCATGGAGAACCTG	0.662																																						ENST00000388866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999838	0.990000	1.000000																										0				35						c.(601-603)aTg>aCg		NADPH oxidase, EF-hand calcium binding domain 5		T	THR/MET,THR/MET,THR/MET	1,4397		0,1,2198	18.0	18.0	18.0		518,497,602	0.9	1.0	15		18	0,8596		0,0,4298	no	missense,missense,missense	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	81,81,81	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	173/738,166/731,201/766	69324134	1,12993	2199	4298	6497	SO:0001583	missense	79400	1	121328	22				g.chr15:69324134T>C	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.602T>C	chr15.hg19:g.69324134T>C	ENSP00000373518:p.Met201Thr	0					NOX5_ENST00000260364.5_Missense_Mutation_p.M183T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T	p.M201T	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	0	1	1	1.989262	Q96PH1	NOX5_HUMAN		4	643	+			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	1	1	hg19	c.602T>C	CCDS32276.2	1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234200	0.58886	2.27E-4	0.0	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.66995	-0.24;1.6;-0.24	3.33	0.912	0.19349	3.33	0.912	0.19349	EF-hand-like domain (1);	0.161027	0.52532	U	0.000077	T	0.49423	0.1556	L	0.41961	1.31	0.41937	D	0.990592	B;B;B	0.20550	0.046;0.022;0.019	B;B;B	0.14578	0.011;0.004;0.011	T	0.23226	-1.0194	10	0.13470	T	0.59	.	6.9543	0.24562	0.0:0.1942:0.0:0.8058	.	166;201;173	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	166;183;201;173	ENSP00000416828:M166T;ENSP00000373518:M201T;ENSP00000432440:M173T	ENSP00000373518:M201T	M	+	2	0	0	NOX5	67111188	67111188	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	3.638000	0.54332	-0.118000	0.11851	-0.628000	0.03992	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_024505			20	20		93	93	1		1			0	0	17	0		9.999976e-01	0	0	0	0	0	0	20	93
NOX5	79400	broad.mit.edu	37	15	69325509	69325509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	ENST00000388866.3	+	5	788	c.747C>T	c.(745-747)caC>caT	p.H249H	NOX5_ENST00000260364.5_Silent_p.H231H|NOX5_ENST00000530406.2_Silent_p.H221H|NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	249					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)			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						CAGGCCTCCACGTGCTGCTCT	0.731																																						ENST00000388866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(745-747)caC>caT		NADPH oxidase, EF-hand calcium binding domain 5							14.0	14.0	14.0					15																	69325509		2191	4287	6478	SO:0001819	synonymous_variant	79400	0	0					g.chr15:69325509C>T	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.747C>T	chr15.hg19:g.69325509C>T		0					NOX5_ENST00000260364.5_Silent_p.H231H|NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000530406.2_Silent_p.H221H	p.H249H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	0	1	1	1.989262	Q96PH1	NOX5_HUMAN		5	788	+			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	0	1	hg19	c.747C>T	CCDS32276.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_024505			21	20		46	43	0		1			0	0	9	0		9.999989e-01	0	0	0	0	0	0	21	46
NOX5	79400	broad.mit.edu	37	15	69348991	69348991	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000388866.3	+	16	2294	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	NOX5_ENST00000260364.5_Silent_p.G733G|NOX5_ENST00000530406.2_Silent_p.G723G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	751					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)			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						TGCTGAAGGGCCATTGTGAGA	0.537																																						ENST00000388866.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2251-2253)ggC>ggT		NADPH oxidase, EF-hand calcium binding domain 5							84.0	81.0	82.0					15																	69348991		2200	4298	6498	SO:0001819	synonymous_variant	79400	0	0					g.chr15:69348991C>T	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.2253C>T	chr15.hg19:g.69348991C>T		0					NOX5_ENST00000260364.5_Silent_p.G733G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000530406.2_Silent_p.G723G	p.G751G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	0	1	1	1.989262	Q96PH1	NOX5_HUMAN		16	2294	+			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	1	1	hg19	c.2253C>T	CCDS32276.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_024505			68	68		240	238	1		1			0	0	64	0		1	0	0	0	0	0	0	68	240
KIF23	9493	broad.mit.edu	37	15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000260363.4	+	9	1040	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	308	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)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403																																						ENST00000260363.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(922-924)aAa>aCa		kinesin family member 23							217.0	206.0	210.0					15																	69718750		2199	4298	6497	SO:0001583	missense	9493	0	0					g.chr15:69718750A>C	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.923A>C	chr15.hg19:g.69718750A>C	ENSP00000260363:p.Lys308Thr	0					KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T	p.K308T	NM_138555.2	NP_612565.1	0	1	1	1.989262	Q02241	KIF23_HUMAN		9	1040	+			Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	1	1	hg19	c.923A>C	CCDS32278.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004930	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.53	4.4	0.53042	5.53	4.4	0.53042	Kinesin, motor domain (5);	0.044773	0.85682	D	0.000000	T	0.70692	0.3253	N	0.12831	0.26	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.948;0.996;0.989	T	0.65038	-0.6265	10	0.13853	T	0.58	.	10.8694	0.46875	0.9254:0.0:0.0746:0.0	.	125;308;308	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	308;308;308;125	ENSP00000260363:K308T;ENSP00000304978:K308T;ENSP00000378790:K308T;ENSP00000442969:K125T	ENSP00000260363:K308T	K	+	2	0	0	KIF23	67505804	67505804	1.000000	0.71417	0.787000	0.31911	0.964000	0.63967	6.190000	0.72057	0.910000	0.36722	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000				239	236		931	906	1		1	1		0	0	212	0		1	9.791335e-01	0	13	0	13	0	239	931
KIF23	9493	broad.mit.edu	37	15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000260363.4	+	15	1814	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	566					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)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGAAAAACAAAACTTTAGAA	0.353																																						ENST00000260363.4	0.760000	0.230000	6.100000e-01	3.300000e-01	0.450000	0.478727	0.450000	0.430000																										0				21						c.(1696-1698)aAa>aCa		kinesin family member 23							60.0	64.0	63.0					15																	69730728		2199	4297	6496	SO:0001583	missense	9493	0	0					g.chr15:69730728A>C	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.1697A>C	chr15.hg19:g.69730728A>C	ENSP00000260363:p.Lys566Thr	0					KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T	p.K566T	NM_138555.2	NP_612565.1	0	1	1	1.989262	Q02241	KIF23_HUMAN		15	1814	+			Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	1	1	hg19	c.1697A>C	CCDS32278.1	0	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282333	0.80692	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.55	4.43	0.53597	5.55	4.43	0.53597	.	0.087928	0.85682	D	0.000000	T	0.66694	0.2815	L	0.38175	1.15	0.58432	D	0.999995	P;D;D	0.71674	0.945;0.998;0.986	P;D;P	0.70487	0.493;0.969;0.835	T	0.62374	-0.6868	10	0.29301	T	0.29	.	10.2854	0.43564	0.9233:0.0:0.0767:0.0	.	383;566;566	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	566;566;566;383	ENSP00000260363:K566T;ENSP00000304978:K566T;ENSP00000378790:K566T;ENSP00000442969:K383T	ENSP00000260363:K566T	K	+	2	0	0	KIF23	67517782	67517782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.841000	0.75374	0.950000	0.37743	0.528000	0.53228	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-12.268640	1	0.170000				10	10		252	247	0		1	1		0	0	62	0		9.967328e-01	3.385577e-01	0	2	0	27	0	10	252
TLE3	7090	broad.mit.edu	37	15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	190	Gly/Pro-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672																																						ENST00000558939.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999952	0.990000	1.000000																										0				31						c.(568-570)Gat>Aat		transducin-like enhancer of split 3							32.0	33.0	32.0					15																	70358362		1858	4087	5945	SO:0001583	missense	7090	0	0					g.chr15:70358362C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.568G>A	chr15.hg19:g.70358362C>T	ENSP00000452871:p.Asp190Asn	0					TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N	p.D190N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	0	1	1	1.989262	Q04726	TLE3_HUMAN		7	1945	-			B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	1	1	hg19	c.568G>A	CCDS45293.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094663	0.56075	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.52526	0.84;0.92;0.98;0.91;0.66	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.112013	0.64402	D	0.000012	T	0.47488	0.1448	L	0.52573	1.65	0.53005	D	0.999965	B;B;B;P;P;P;P;P	0.38195	0.024;0.149;0.028;0.488;0.605;0.488;0.622;0.6	B;B;B;B;B;B;B;B	0.38296	0.011;0.025;0.027;0.088;0.087;0.088;0.27;0.181	T	0.41378	-0.9512	10	0.37606	T	0.19	-21.5296	19.131	0.93406	0.0:1.0:0.0:0.0	.	183;190;190;190;190;190;195;134	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	190;190;190;183;134	ENSP00000390007:D190N;ENSP00000394717:D190N;ENSP00000319233:D190N;ENSP00000415057:D183N;ENSP00000442594:D134N	ENSP00000319233:D190N	D	-	1	0	0	TLE3	68145416	68145416	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	5.861000	0.69553	2.609000	0.88269	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.329179	1	0.170000	NM_005078			35	32		201	196	0		1	1		0	0	40	0		1	9.998633e-01	0	14	0	67	0	35	201
UACA	55075	broad.mit.edu	37	15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	335					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)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274																																						ENST00000322954.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1003-1005)gTt>gGt		uveal autoantigen with coiled-coil domains and ankyrin repeats							56.0	62.0	60.0					15																	70969475		2199	4295	6494	SO:0001583	missense	55075	0	0					g.chr15:70969475A>C	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.1004T>G	chr15.hg19:g.70969475A>C	ENSP00000314556:p.Val335Gly	0					UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G	p.V335G	NM_018003.2	NP_060473.2	0	1	1	1.989262	Q9BZF9	UACA_HUMAN		12	1189	-			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	1	1	hg19	c.1004T>G	CCDS10235.1	1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477796	0.63849	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34667	1.35;1.37;1.8	5.4	4.21	0.49690	5.4	4.21	0.49690	.	0.591373	0.15170	N	0.276723	T	0.44222	0.1283	L	0.51422	1.61	0.44677	D	0.997667	D;D;D	0.57899	0.967;0.968;0.981	P;P;P	0.57324	0.604;0.587;0.818	T	0.10917	-1.0609	10	0.23302	T	0.38	-18.2105	9.5199	0.39129	0.7722:0.0:0.0:0.2278	.	226;335;322	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	G	335;322;226	ENSP00000314556:V335G;ENSP00000369319:V322G;ENSP00000438667:V226G	ENSP00000314556:V335G	V	-	2	0	0	UACA	68756529	68756529	0.988000	0.35896	0.972000	0.41901	0.984000	0.73092	2.588000	0.46137	2.175000	0.68902	0.477000	0.44152	GTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				50	49		212	206	1		1	1		0	0	78	0		1	1	0	9	0	139	0	50	212
UACA	55075	broad.mit.edu	37	15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	316					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)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTTTGTTCTTGCTGAATT	0.308																																						ENST00000322954.6	1.000000	0.480000	1	6.300000e-01	0.810000	0.809875	0.810000	1.000000																										0				50						c.(946-948)Gaa>Taa		uveal autoantigen with coiled-coil domains and ankyrin repeats							118.0	114.0	116.0					15																	70970491		2197	4292	6489	SO:0001587	stop_gained	55075	0	0					g.chr15:70970491C>A	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.946G>T	chr15.hg19:g.70970491C>A	ENSP00000314556:p.Glu316*	0					UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*	p.E316*	NM_018003.2	NP_060473.2	0	1	1	1.989262	Q9BZF9	UACA_HUMAN		11	1131	-			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	0	1	hg19	c.946G>T	CCDS10235.1	0	.	.	.	.	.	.	.	.	.	.	C	40	8.384269	0.98786	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.0907	17.5243	0.87795	0.0:1.0:0.0:0.0	.	.	.	.	X	316;303;303;207	.	ENSP00000314556:E316X	E	-	1	0	0	UACA	68757545	68757545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.560000	0.73950	2.658000	0.90341	0.585000	0.79938	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-5.838772	1	0.170000				15	15		202	199	0		1	0		0	0	83	0		9.998770e-01	9.900419e-01	0	0	0	105	0	15	202
UACA	55075	broad.mit.edu	37	15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308					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)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303																																						ENST00000322954.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				50						c.(922-924)Gag>Aag		uveal autoantigen with coiled-coil domains and ankyrin repeats							96.0	93.0	94.0					15																	70970515		2196	4295	6491	SO:0001583	missense	55075	0	0					g.chr15:70970515C>T	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.922G>A	chr15.hg19:g.70970515C>T	ENSP00000314556:p.Glu308Lys	0					UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K	p.E308K	NM_018003.2	NP_060473.2	0	1	1	1.989262	Q9BZF9	UACA_HUMAN		11	1107	-			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	1	1	hg19	c.922G>A	CCDS10235.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691807	0.88735	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38240	1.15;1.16;1.73	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.270250	0.31922	N	0.006854	T	0.45094	0.1325	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.41929	0.765;0.653;0.653;0.73	P;B;B;B	0.44359	0.447;0.26;0.26;0.281	T	0.45906	-0.9229	10	0.62326	D	0.03	-17.5848	17.5243	0.87795	0.0:1.0:0.0:0.0	.	199;308;308;295	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	308;295;295;199	ENSP00000314556:E308K;ENSP00000369319:E295K;ENSP00000438667:E199K	ENSP00000314556:E308K	E	-	1	0	0	UACA	68757569	68757569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.912000	0.63335	2.658000	0.90341	0.585000	0.79938	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-3.365197	1	0.170000				30	30		156	153	1		1	1		0	0	66	0		1	9.999999e-01	0	26	0	118	0	30	156
THAP10	56906	broad.mit.edu	37	15	71174954	71174954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363																																						ENST00000249861.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L205M(1)	kidney(1)	12						c.(613-615)Ctg>Ttg		THAP domain containing 10							121.0	116.0	118.0					15																	71174954		2199	4297	6496	SO:0001819	synonymous_variant	56906	0	0					g.chr15:71174954G>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.613C>T	chr15.hg19:g.71174954G>A		0					LRRC49_ENST00000544974.2_Intron	p.L205L	NM_020147.3	NP_064532.1	0	1	1	1.989262	Q9P2Z0	THA10_HUMAN		3	1125	-			B2R8R0	Silent	SNP	ENST00000249861.4	1	1	hg19	c.613C>T	CCDS10237.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_020147			80	80		284	279	1		1	1		0	0	83	0		1	8.133849e-01	0	2	0	11	0	80	284
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A	rs200144297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000443425.2_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.001		0.0	False		,,,				2504	0.0					ENST00000260382.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(133-135)tcG>tcA		leucine rich repeat containing 49							90.0	86.0	88.0					15																	71188217		2199	4297	6496	SO:0001819	synonymous_variant	54839	0	0					g.chr15:71188217G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.135G>A	chr15.hg19:g.71188217G>A		0					LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000436542.2_3'UTR	p.S45S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	0	1	1	1.989262	Q8IUZ0	LRC49_HUMAN		3	395	+			B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	ENST00000260382.5	1	1	hg19	c.135G>A	CCDS32282.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_017691			56	56		207	202	1		1	1		0	0	42	0		1	9.428596e-01	0	4	0	16	0	56	207
LRRC49	54839	broad.mit.edu	37	15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000260382.5	+	11	1305	c.1045T>C	c.(1045-1047)Tgg>Cgg	p.W349R	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	349						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378																																						ENST00000260382.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1045-1047)Tgg>Cgg		leucine rich repeat containing 49							110.0	95.0	100.0					15																	71276472		2199	4297	6496	SO:0001583	missense	54839	0	0					g.chr15:71276472T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1045T>C	chr15.hg19:g.71276472T>C	ENSP00000260382:p.Trp349Arg	0					LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000436542.2_3'UTR	p.W349R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	0	1	1	1.989262	Q8IUZ0	LRC49_HUMAN		11	1305	+			B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	1	1	hg19	c.1045T>C	CCDS32282.1	1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218337	0.39201	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22743	1.94;1.94;1.94	4.31	4.31	0.51392	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	T	0.28618	-1.0038	10	0.51188	T	0.08	-0.4011	11.7414	0.51794	0.0:0.0:0.0:1.0	.	354;321;305;349;339	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	339;349;305;321	ENSP00000439600:W339R;ENSP00000260382:W349R;ENSP00000414065:W305R	ENSP00000260382:W349R	W	+	1	0	0	LRRC49	69063526	69063526	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	4.186000	0.58337	1.939000	0.56221	0.383000	0.25322	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_017691			47	46		186	184	1		1	1		0	0	52	0		1	9.485974e-01	0	6	0	16	0	47	186
THSD4	79875	broad.mit.edu	37	15	72039244	72039244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	702	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617																																						ENST00000355327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2104-2106)Ctg>Ttg		thrombospondin, type I, domain containing 4							48.0	57.0	54.0					15																	72039244		2188	4294	6482	SO:0001819	synonymous_variant	79875	0	0					g.chr15:72039244C>T	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.2104C>T	chr15.hg19:g.72039244C>T		0					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000261862.6_Silent_p.L702L	p.L702L			0	1	1	1.989262	Q6ZMP0	THSD4_HUMAN		13	2238	+			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	1	1	hg19	c.2104C>T	CCDS10238.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_024817			65	63		235	230	1		1	0		0	0	43	0		1	9.948973e-01	0	1	0	31	0	65	235
NR2E3	10002	broad.mit.edu	37	15	72103910	72103910	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	ENST00000398840.2	+	0	396							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGCTGCAGCGGCTTCTTCAAG	0.672																																						ENST00000398840.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.986517	0.990000	1.000000																										0				3								nuclear receptor subfamily 2, group E, member 3							16.0	20.0	19.0					15																	72103910		2060	4207	6267			10002	0	0					g.chr15:72103910G>A		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		chr15.hg19:g.72103910G>A		0									0	1	1	1.989262	Q9Y5X4	NR2E3_HUMAN		0	396	+			B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	0	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802620	0.31869	.	.	ENSG00000031544	ENST00000398840	.	.	.	4.13	4.13	0.48395	4.13	4.13	0.48395	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.110700	0.64402	D	0.000011	D	0.85588	0.5731	H	0.95004	3.61	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	8	0.87932	D	0	.	12.98	0.58557	0.0:0.164:0.836:0.0	.	69	Q9Y5X4	NR2E3_HUMAN	D	69	.	ENSP00000381820:G69D	G	+	2	0	0	NR2E3	69890964	69890964	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	5.543000	0.67225	1.828000	0.53243	0.484000	0.47621	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-17.734620	1	0.170000	NM_014249			10	10		65	61	0		1			0	0	11	0		9.967346e-01	0	0	0	0	0	0	10	65
MYO9A	4649	broad.mit.edu	37	15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000356056.5	-	42	7981	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2503	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)			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						TTTTCACATTCTTTAATTTTT	0.488																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(7507-7509)aaG>aaT		myosin IXA							152.0	157.0	156.0					15																	72119059		2199	4297	6496	SO:0001583	missense	4649	0	0					g.chr15:72119059C>A	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.7509G>T	chr15.hg19:g.72119059C>A	ENSP00000348349:p.Lys2503Asn	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N|MYO9A_ENST00000564571.1_3'UTR	p.K2503N	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		42	7981	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	1	1	hg19	c.7509G>T	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276009	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87571	-2.27;-2.27;-2.26	5.2	4.28	0.50868	5.2	4.28	0.50868	.	.	.	.	.	D	0.86264	0.5891	L	0.32530	0.975	0.40054	D	0.975819	D;D	0.63046	0.986;0.992	P;P	0.55923	0.738;0.787	D	0.86612	0.1873	9	0.62326	D	0.03	.	10.2152	0.43164	0.0:0.8455:0.0:0.1544	.	2503;2267	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	N	2503;2574;2484	ENSP00000348349:K2503N;ENSP00000399162:K2574N;ENSP00000398250:K2484N	ENSP00000348349:K2503N	K	-	3	2	2	MYO9A	69906113	69906113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.348000	0.33987	1.164000	0.42652	0.563000	0.77884	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	1		2	2	2	0		0	0	136		136	133	1	2.060000	-20.000000	1	0.170000	NM_006901			140	137		701	690	1		1	1		0	0	136	0		1	8.852600e-01	0	3	0	18	0	140	701
MYO9A	4649	broad.mit.edu	37	15	72119296	72119296	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000356056.5	-	42	7744	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_ENST00000424560.1_Silent_p.D2495D|MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2424	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)			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						CATCTAAAGAGTCTTGCTGCT	0.428																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(7270-7272)gaC>gaT		myosin IXA							69.0	71.0	70.0					15																	72119296		2199	4297	6496	SO:0001819	synonymous_variant	4649	0	0					g.chr15:72119296G>A	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.7272C>T	chr15.hg19:g.72119296G>A		0					MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000424560.1_Silent_p.D2495D|MYO9A_ENST00000564571.1_3'UTR	p.D2424D	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		42	7744	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	1	1	hg19	c.7272C>T	CCDS10239.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_006901			56	56		269	265	1		1	1		0	0	59	0		1	6.841309e-01	0	3	0	10	0	56	269
MYO9A	4649	broad.mit.edu	37	15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A	rs371514628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2299	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)			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						GAAGGCAACCGAACTACAACA	0.488																																						ENST00000356056.5	0.380000	0.100000	3.000000e-01	1.500000e-01	0.210000	0.231942	0.210000	0.210000																										0				88						c.(6895-6897)Cgg>Tgg		myosin IXA		G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	134.0	126.0	128.0		6895	3.8	0.1	15		128	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	2299/2549	72122595	2,12990	2199	4297	6496	SO:0001583	missense	4649	18	121410	44				g.chr15:72122595G>A	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.6895C>T	chr15.hg19:g.72122595G>A	ENSP00000348349:p.Arg2299Trp	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W	p.R2299W	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		40	7367	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	0	1	hg19	c.6895C>T	CCDS10239.1	0	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587506	0.66105	2.27E-4	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85556	-1.99;-2.0;-1.98	4.73	3.79	0.43588	4.73	3.79	0.43588	.	.	.	.	.	D	0.84763	0.5544	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.67145	0.996;0.994	B;P	0.46049	0.425;0.502	T	0.77194	-0.2677	9	0.66056	D	0.02	.	13.8244	0.63342	0.0:0.2922:0.7078:0.0	.	2299;2063	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	W	2299;2370;2280	ENSP00000348349:R2299W;ENSP00000399162:R2370W;ENSP00000398250:R2280W	ENSP00000348349:R2299W	R	-	1	2	2	MYO9A	69909649	69909649	0.995000	0.38212	0.088000	0.20740	0.981000	0.71138	4.128000	0.57951	1.324000	0.45282	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-2.794094	1	0.170000	NM_006901			9	9		489	483	0		1	0		0	0	96	0		9.939762e-01	1.306237e-01	0	0	0	30	0	9	489
MYO9A	4649	broad.mit.edu	37	15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000356056.5	-	35	6764	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2098	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|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)			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						CCAGACTTTCGATAAATACCT	0.373																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(6292-6294)Cga>Tga		myosin IXA							156.0	149.0	151.0					15																	72146772		2199	4297	6496	SO:0001587	stop_gained	4649	0	0					g.chr15:72146772G>A	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.6292C>T	chr15.hg19:g.72146772G>A	ENSP00000348349:p.Arg2098*	0					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*	p.R2098*	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		35	6764	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	0	1	hg19	c.6292C>T	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.510016	0.99190	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.99	5.99	0.97316	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2853	0.66243	0.0:0.0:0.7534:0.2466	.	.	.	.	X	2098;2169;2079	.	ENSP00000348349:R2098X	R	-	1	2	2	MYO9A	69933826	69933826	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.124000	0.42006	2.843000	0.97960	0.591000	0.81541	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	0		2	2	2	0		0	0	136		136	137	1	2.060000	-3.390536	1	0.170000	NM_006901			145	142		639	632	0		1	1		0	0	136	0		1	9.309024e-01	0	4	0	18	0	145	639
MYO9A	4649	broad.mit.edu	37	15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000356056.5	-	35	6717	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H|MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2082	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|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)			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						GTAGTTTATGAGCTTTTCCAC	0.408																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(6244-6246)cTc>cAc		myosin IXA							150.0	136.0	141.0					15																	72146819		2199	4297	6496	SO:0001583	missense	4649	0	0					g.chr15:72146819A>T	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.6245T>A	chr15.hg19:g.72146819A>T	ENSP00000348349:p.Leu2082His	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H	p.L2082H	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		35	6717	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	1	1	hg19	c.6245T>A	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993873	0.93167	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.21543	2.0;2.0;2.0	5.99	5.99	0.97316	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.53997	0.1831	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.65212	-0.6223	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2082	B2RTY4	MYO9A_HUMAN	H	2082;2153;2063	ENSP00000348349:L2082H;ENSP00000399162:L2153H;ENSP00000398250:L2063H	ENSP00000348349:L2082H	L	-	2	0	0	MYO9A	69933873	69933873	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	0		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_006901			116	114		498	492	1		1	1		0	0	107	0		1	9.463506e-01	0	2	0	21	0	116	498
MYO9A	4649	broad.mit.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						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)			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						TCTCTGAGGTCTGTTTAAAGA	0.368																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.e28-1		myosin IXA							124.0	123.0	124.0					15																	72176078		2199	4297	6496	SO:0001630	splice_region_variant	4649	0	0					g.chr15:72176078C>T	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.5256-1G>A	chr15.hg19:g.72176078C>T		0					MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site		NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		28	5728	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Splice_Site	SNP	ENST00000356056.5	1	1	hg19		CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859482	0.71834	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MYO9A	69963132	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_006901	Intron		52	49		238	236	1		1	0		0	0	54	0		1	0	0	1	0	0	0	52	238
MYO9A	4649	broad.mit.edu	37	15	72191130	72191130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000356056.5	-	25	4186	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.A1238A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1238	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)			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						TCTGGCTTTGGGCTCTCTCCT	0.473																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(3712-3714)gcC>gcT		myosin IXA							163.0	157.0	159.0					15																	72191130		2199	4297	6496	SO:0001819	synonymous_variant	4649	0	0					g.chr15:72191130G>A	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.3714C>T	chr15.hg19:g.72191130G>A		0					MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A	p.A1238A	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		25	4186	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	1	1	hg19	c.3714C>T	CCDS10239.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-3.178769	1	0.170000	NM_006901			157	154		712	697	1		1	1		0	0	155	0		1	9.606799e-01	0	3	0	23	0	157	712
MYO9A	4649	broad.mit.edu	37	15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000356056.5	-	24	3908	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1146	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				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)			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						CATGTTGATTGCAAAAGGATA	0.368																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(3436-3438)Caa>Taa		myosin IXA							80.0	77.0	78.0					15																	72192062		2199	4297	6496	SO:0001587	stop_gained	4649	0	0					g.chr15:72192062G>A	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.3436C>T	chr15.hg19:g.72192062G>A	ENSP00000348349:p.Gln1146*	0					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*	p.Q1146*	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		24	3908	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	0	1	hg19	c.3436C>T	CCDS10239.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.782160|12.782160	0.99696|0.99696	.|.	.|.	ENSG00000066933|ENSG00000066933	ENST00000261864|ENST00000356056;ENST00000424560;ENST00000444904	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|.	0.81814|.	0.4902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82153|.	-0.0598|.	4|.	0.10636|0.56958	T|D	0.68|0.05	.|.	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1126|1146;1146;1127	.|.	ENSP00000261864:A1126V|ENSP00000348349:Q1146X	A|Q	-|-	2|1	0|0	0|0	MYO9A|MYO9A	69979116|69979116	69979116|69979116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.263000|8.263000	0.89864|0.89864	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.504657	1	0.170000	NM_006901			71	71		301	296	1		1	0		0	0	63	0		1	7.773214e-01	0	1	0	13	0	71	301
MYO9A	4649	broad.mit.edu	37	15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000356056.5	-	19	3086	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	872	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)			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						GTAATGCGATCTTGTAGTGTC	0.338																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2614-2616)Gat>Aat		myosin IXA							97.0	101.0	100.0					15																	72208782		2199	4297	6496	SO:0001583	missense	4649	0	0					g.chr15:72208782C>T	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.2614G>A	chr15.hg19:g.72208782C>T	ENSP00000348349:p.Asp872Asn	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N	p.D872N	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		19	3086	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	1	1	hg19	c.2614G>A	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.408315	0.96051	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71698	-0.59;-0.59;-0.59	5.24	5.24	0.73138	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77157	0.4089	L	0.35414	1.06	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.943	D;P;P	0.91635	0.999;0.781;0.896	T	0.73736	-0.3889	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	853;853;872	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	872;872;853;853	ENSP00000348349:D872N;ENSP00000399162:D872N;ENSP00000398250:D853N	ENSP00000261864:D853N	D	-	1	0	0	MYO9A	69995836	69995836	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.240000	0.78192	2.709000	0.92574	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-4.055864	1	0.170000	NM_006901			67	64		238	232	1		1	1		0	0	60	0		1	7.321279e-01	0	2	0	9	0	67	238
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000356056.5	-	10	2010	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	513	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)			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						ATGATTAATTCGAAAAACTAT	0.338																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(1537-1539)cGa>cAa		myosin IXA							111.0	112.0	112.0					15																	72286859		2199	4297	6496	SO:0001583	missense	4649	2	121412	34				g.chr15:72286859C>T	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.1538G>A	chr15.hg19:g.72286859C>T	ENSP00000348349:p.Arg513Gln	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q	p.R513Q	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		10	2010	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	1	1	hg19	c.1538G>A	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974210	0.92919	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.14	5.14	0.70334	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	D	0.90721	0.7088	L	0.33792	1.035	0.80722	D	1	D;P;D;P	0.71674	0.998;0.867;0.961;0.886	D;B;P;P	0.70716	0.97;0.23;0.688;0.564	D	0.88017	0.2766	9	0.19147	T	0.46	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	494;513;494;513	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	Q	513;513;494;494;513	ENSP00000348349:R513Q;ENSP00000399162:R513Q;ENSP00000398250:R494Q	ENSP00000261864:R494Q	R	-	2	0	0	MYO9A	70073913	70073913	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.275000	0.78548	2.385000	0.81259	0.557000	0.71058	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000	NM_006901			106	102		447	440	1		1	1		0	0	107	0		1	9.404101e-01	0	4	0	18	0	106	447
MYO9A	4649	broad.mit.edu	37	15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000356056.5	-	2	1014	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	181	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)			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						TATTAGAATACTGCCAACATA	0.323																																						ENST00000356056.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(541-543)aGt>aTt		myosin IXA							65.0	70.0	68.0					15																	72338363		2199	4297	6496	SO:0001583	missense	4649	0	0					g.chr15:72338363C>A	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.542G>T	chr15.hg19:g.72338363C>A	ENSP00000348349:p.Ser181Ile	0					MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron	p.S181I	NM_006901.3	NP_008832.2	0	1	1	1.989262	B2RTY4	MYO9A_HUMAN		2	1014	-			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	1	1	hg19	c.542G>T	CCDS10239.1	1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.662272	0.67700	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87179	-2.22;-2.22;-2.22	5.8	5.8	0.92144	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.90696	0.7081	L	0.43598	1.365	0.58432	D	0.999995	P;D;D	0.63046	0.948;0.975;0.992	P;P;D	0.70487	0.759;0.861;0.969	D	0.91177	0.4973	9	0.87932	D	0	.	15.587	0.76491	0.0:0.863:0.137:0.0	.	181;181;181	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	181	ENSP00000348349:S181I;ENSP00000399162:S181I;ENSP00000398250:S181I	ENSP00000261864:S181I	S	-	2	0	0	MYO9A	70125417	70125417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.749000	0.94314	0.650000	0.86243	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_006901			78	76		294	291	1		1	1		0	0	66	0		1	6.537590e-01	0	4	0	6	0	78	294
SENP8	123228	broad.mit.edu	37	15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000542035.2	+	2	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	120	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433																																						ENST00000542035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(358-360)tCc>tTc		SUMO/sentrin specific peptidase family member 8							58.0	62.0	61.0					15																	72432323		2199	4297	6496	SO:0001583	missense	123228	0	0					g.chr15:72432323C>T	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.359C>T	chr15.hg19:g.72432323C>T	ENSP00000446057:p.Ser120Phe	0					RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	p.S120F	NM_001166340.1	NP_001159812.1	0	1	1	1.989262	Q96LD8	SENP8_HUMAN		2	692	+			Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	1	1	hg19	c.359C>T	CCDS10240.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892924	0.91889	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-17.7189	19.8681	0.96839	0.0:1.0:0.0:0.0	.	120	Q96LD8	SENP8_HUMAN	F	120	ENSP00000446057:S120F;ENSP00000441753:S120F;ENSP00000340505:S120F;ENSP00000439415:S120F	ENSP00000340505:S120F	S	+	2	0	0	SENP8	70219377	70219377	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.764000	0.94973	0.643000	0.83706	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_145204			68	67		312	305	1		1	1		0	0	78	0		1	6.137880e-01	0	8	0	3	0	68	312
SENP8	123228	broad.mit.edu	37	15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000542035.2	+	2	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	205							cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448																																						ENST00000542035.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.997983	0.990000	1.000000																										0				6						c.(613-615)Ctc>Atc		SUMO/sentrin specific peptidase family member 8							64.0	59.0	61.0					15																	72432577		2199	4297	6496	SO:0001583	missense	123228	0	0					g.chr15:72432577C>A	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.613C>A	chr15.hg19:g.72432577C>A	ENSP00000446057:p.Leu205Ile	0					RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	p.L205I	NM_001166340.1	NP_001159812.1	0	1	1	1.989262	Q96LD8	SENP8_HUMAN		2	946	+			Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	1	1	hg19	c.613C>A	CCDS10240.1	1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056735	0.36277	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.84	0.62591	5.76	4.84	0.62591	.	0.069030	0.64402	D	0.000014	T	0.48786	0.1519	L	0.48877	1.53	0.80722	D	1	B	0.28026	0.198	B	0.41917	0.37	T	0.34428	-0.9829	10	0.20519	T	0.43	-13.4616	13.5248	0.61589	0.0:0.9264:0.0:0.0736	.	205	Q96LD8	SENP8_HUMAN	I	205	ENSP00000446057:L205I;ENSP00000441753:L205I;ENSP00000340505:L205I;ENSP00000439415:L205I	ENSP00000340505:L205I	L	+	1	0	0	SENP8	70219631	70219631	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.575000	0.53870	2.730000	0.93505	0.591000	0.81541	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_145204			30	30		218	215	1		1	1		0	0	43	0		1	4.458422e-01	0	4	0	8	0	30	218
GRAMD2	196996	broad.mit.edu	37	15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	301						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCCCAGTGCTCCTGGGCTC	0.577																																						ENST00000309731.7	1.000000	0.790000	1	9.300000e-01	0.990000	0.974818	0.990000	1.000000																										0				13						c.(901-903)aGc>aAc		GRAM domain containing 2							73.0	75.0	74.0					15																	72455661		2199	4297	6496	SO:0001583	missense	196996	0	0					g.chr15:72455661C>T	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.902G>A	chr15.hg19:g.72455661C>T	ENSP00000311657:p.Ser301Asn	0					GRAMD2_ENST00000564184.1_5'UTR	p.S301N	NM_001012642.2	NP_001012660.1	0	1	1	1.989262	Q8IUY3	GRAM2_HUMAN		10	915	-			B3KT68	Missense_Mutation	SNP	ENST00000309731.7	1	1	hg19	c.902G>A	CCDS32283.1	1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637417	0.14386	.	.	ENSG00000175318	ENST00000309731	T	0.32272	1.46	5.46	2.45	0.29901	5.46	2.45	0.29901	.	0.839871	0.11079	N	0.602061	T	0.25082	0.0609	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30001	-0.9993	10	0.20519	T	0.43	.	8.5009	0.33156	0.0:0.6177:0.3011:0.0812	.	301	Q8IUY3	GRAM2_HUMAN	N	301	ENSP00000311657:S301N	ENSP00000311657:S301N	S	-	2	0	0	GRAMD2	70242715	70242715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	0.235000	0.21160	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-12.508630	1	0.170000	NM_001012642			41	41		400	392	0		1	0		0	0	77	0		1	2.807585e-01	0	1	0	10	0	41	400
PARP6	56965	broad.mit.edu	37	15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	390							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443																																						ENST00000569795.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998349	0.990000	1.000000																										0				18						c.(1168-1170)Atg>Ctg		poly (ADP-ribose) polymerase family, member 6							107.0	110.0	109.0					15																	72546819		1897	4114	6011	SO:0001583	missense	56965	0	0					g.chr15:72546819T>G	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1168A>C	chr15.hg19:g.72546819T>G	ENSP00000456348:p.Met390Leu	0					PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L	p.M390L			0	1	1	1.989262	Q2NL67	PARP6_HUMAN		15	1855	-			Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	1	1	hg19	c.1168A>C	CCDS10241.2	1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092446	0.36952	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.18863	0.0;0.031;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.29882	-0.9997	9	0.23891	T	0.37	-33.475	14.8922	0.70617	0.0:0.0:0.0:1.0	.	390;390;322	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	390;390;390;235;235	.	ENSP00000260376:M390L	M	-	1	0	0	PARP6	70333873	70333873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.107000	0.64212	0.460000	0.39030	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020214			27	27		187	179	1		1	1		0	0	44	0		1	9.998775e-01	0	18	0	82	0	27	187
PARP6	56965	broad.mit.edu	37	15	72551961	72551961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000260376.7_Silent_p.G266G			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493																																						ENST00000569795.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(796-798)ggA>ggG		poly (ADP-ribose) polymerase family, member 6							295.0	289.0	291.0					15																	72551961		1921	4136	6057	SO:0001819	synonymous_variant	56965	0	0					g.chr15:72551961T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.798A>G	chr15.hg19:g.72551961T>C		0					PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Silent_p.G266G	p.G266G			0	1	1	1.989262	Q2NL67	PARP6_HUMAN		11	1485	-			Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	1	1	hg19	c.798A>G	CCDS10241.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	1		2	2	2	0		0	0	304		304	302	1	2.060000	-20.000000	1	0.170000	NM_020214			250	247		1058	1031	0		1	1		0	0	304	0		1	1	0	20	0	84	0	250	1058
PARP6	56965	broad.mit.edu	37	15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	79							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468																																						ENST00000569795.1	1.000000	0.750000	1	9.100000e-01	0.990000	0.969173	0.990000	1.000000																										0				18						c.(235-237)Gat>Aat		poly (ADP-ribose) polymerase family, member 6							133.0	129.0	130.0					15																	72557756		1995	4169	6164	SO:0001583	missense	56965	2	120932	34				g.chr15:72557756C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.235G>A	chr15.hg19:g.72557756C>T	ENSP00000456348:p.Asp79Asn	0					PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N	p.D79N			0	1	1	1.989262	Q2NL67	PARP6_HUMAN		6	922	-			Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	1	1	hg19	c.235G>A	CCDS10241.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.649327	0.96714	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.66716	-0.5853	9	0.39692	T	0.17	-15.8467	18.1292	0.89596	0.0:1.0:0.0:0.0	.	79;79	Q0VDG0;Q2NL67	.;PARP6_HUMAN	N	79	.	ENSP00000260376:D79N	D	-	1	0	0	PARP6	70344810	70344810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.533000	0.85409	0.563000	0.77884	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-3.017764	1	0.170000	NM_020214			27	26		258	256	0		1	1		0	0	56	0		1	9.950171e-01	0	5	0	77	0	27	258
CELF6	60677	broad.mit.edu	37	15	72582592	72582592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000569547.1	-	4	470	c.399C>T	c.(397-399)gaC>gaT	p.D133D	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000543764.2_Silent_p.D18D|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000539635.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	133					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602																																						ENST00000569547.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999181	0.990000	1.000000																										0				13						c.(397-399)gaC>gaT		CUGBP, Elav-like family member 6							46.0	39.0	42.0					15																	72582592		2199	4297	6496	SO:0001819	synonymous_variant	60677	0	0					g.chr15:72582592G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.399C>T	chr15.hg19:g.72582592G>A		0					CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000543764.2_Silent_p.D18D	p.D133D			0	1	1	1.989262	Q96J87	CELF6_HUMAN		4	470	-			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	1	1	hg19	c.399C>T	CCDS10242.1	1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138296	0.37728	.	.	ENSG00000140488	ENST00000379915	.	.	.	5.41	2.5	0.30297	5.41	2.5	0.30297	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57015	-0.7883	5	0.45353	T	0.12	-17.7166	8.2792	0.31889	0.2471:0.0:0.7529:0.0	.	.	.	.	I	11	.	ENSP00000369247:T11I	T	-	2	0	0	CELF6	70369646	70369646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	0.660000	0.30964	0.561000	0.74099	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_052840			18	16		97	95	1		1	0		0	0	31	0		9.999853e-01	7.285835e-02	0	0	0	3	0	18	97
CELF6	60677	broad.mit.edu	37	15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000569547.1	-	2	411	c.340C>T	c.(340-342)Cca>Tca	p.P114S	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.P114S|CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	114	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637																																						ENST00000569547.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				13						c.(340-342)Cca>Tca		CUGBP, Elav-like family member 6							38.0	35.0	36.0					15																	72608191		2199	4297	6496	SO:0001583	missense	60677	0	0					g.chr15:72608191G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.340C>T	chr15.hg19:g.72608191G>A	ENSP00000454749:p.Pro114Ser	0					RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Missense_Mutation_p.P114S	p.P114S			0	1	1	1.989262	Q96J87	CELF6_HUMAN		2	411	-			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	1	1	hg19	c.340C>T	CCDS10242.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744052	0.89663	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.15718	2.4	5.95	5.95	0.96441	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000506	T	0.37461	0.1004	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.01702	-1.1292	10	0.66056	D	0.02	-4.7191	18.957	0.92662	0.0:0.0:1.0:0.0	.	114;114	B4DJB6;Q96J87	.;CELF6_HUMAN	S	114	ENSP00000287202:P114S	ENSP00000287202:P114S	P	-	1	0	0	CELF6	70395245	70395245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_052840			16	15		48	46	1		1			0	0	11	0		9.999575e-01	0	0	0	0	0	0	16	48
TMEM202	338949	broad.mit.edu	37	15	72691241	72691241	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72691241A>C	ENST00000341689.3	+	2	383	c.329A>C	c.(328-330)aAg>aCg	p.K110T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	110						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACACACCCAAGCCACCCTGT	0.517																																						ENST00000341689.3	0.560000	0.210000	4.700000e-01	2.800000e-01	0.360000	0.379370	0.360000	0.360000																										0				18						c.(328-330)aAg>aCg		transmembrane protein 202							91.0	86.0	87.0					15																	72691241		2199	4297	6496	SO:0001583	missense	338949	0	0					g.chr15:72691241A>C		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.329A>C	chr15.hg19:g.72691241A>C	ENSP00000340212:p.Lys110Thr	0					TMEM202_ENST00000567679.1_Intron	p.K110T	NM_001080462.1	NP_001073931.1	0	1	1	1.989262	A6NGA9	TM202_HUMAN		2	383	+				Missense_Mutation	SNP	ENST00000341689.3	1	1	hg19	c.329A>C	CCDS32287.1	0	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775452	0.31411	.	.	ENSG00000187806	ENST00000341689	T	0.44881	0.91	3.72	2.55	0.30701	3.72	2.55	0.30701	.	0.279921	0.25552	N	0.029897	T	0.48892	0.1525	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39461	-0.9613	10	0.42905	T	0.14	-14.1691	6.0233	0.19640	0.878:0.0:0.122:0.0	.	110	A6NGA9	TM202_HUMAN	T	110	ENSP00000340212:K110T	ENSP00000340212:K110T	K	+	2	0	0	TMEM202	70478295	70478295	0.001000	0.12720	0.998000	0.56505	0.263000	0.26337	0.464000	0.21988	0.583000	0.29574	0.533000	0.62120	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	0	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-13.936540	1	0.170000	NM_001080462			15	15		472	454	0		1			0	0	115	0		9.998341e-01	0	0	0	0	0	0	15	472
ARIH1	25820	broad.mit.edu	37	15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	265					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259																																						ENST00000379887.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999852	0.990000	1.000000																										0				14						c.(793-795)aGc>aTc		ariadne RBR E3 ubiquitin protein ligase 1							38.0	41.0	40.0					15																	72853880		2195	4290	6485	SO:0001583	missense	25820	0	0					g.chr15:72853880G>T	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.794G>T	chr15.hg19:g.72853880G>T	ENSP00000369217:p.Ser265Ile	0						p.S265I	NM_005744.3	NP_005735.2	0	1	1	1.989262	Q9Y4X5	ARI1_HUMAN		6	1108	+			B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	1	1	hg19	c.794G>T	CCDS10244.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937987	0.92526	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.92459	0.5976	10	0.87932	D	0	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	265	Q9Y4X5	ARI1_HUMAN	I	265;235	ENSP00000369217:S265I	ENSP00000299305:S235I	S	+	2	0	0	ARIH1	70640934	70640934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.419000	0.97397	2.765000	0.95021	0.650000	0.86243	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.259	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005744			24	24		125	123	1		1	1		0	0	28	0		9.999998e-01	9.999913e-01	0	22	0	82	0	24	125
ARIH1	25820	broad.mit.edu	37	15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	541					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373																																						ENST00000379887.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1621-1623)caG>caT		ariadne RBR E3 ubiquitin protein ligase 1							123.0	117.0	119.0					15																	72875582		2198	4297	6495	SO:0001583	missense	25820	0	0					g.chr15:72875582G>T	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.1623G>T	chr15.hg19:g.72875582G>T	ENSP00000369217:p.Gln541His	0					ARIH1_ENST00000562891.1_3'UTR	p.Q541H	NM_005744.3	NP_005735.2	0	1	1	1.989262	Q9Y4X5	ARI1_HUMAN		14	1937	+			B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	1	1	hg19	c.1623G>T	CCDS10244.1	1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713107	0.48517	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86562	-2.14	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.31926	0.97	0.80722	D	1	P	0.39424	0.673	B	0.40982	0.345	D	0.84533	0.0634	10	0.62326	D	0.03	.	14.8637	0.70399	0.0:0.0:0.8565:0.1435	.	541	Q9Y4X5	ARI1_HUMAN	H	541;511	ENSP00000369217:Q541H	ENSP00000299305:Q511H	Q	+	3	2	2	ARIH1	70662636	70662636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.242000	0.72376	2.763000	0.94921	0.650000	0.86243	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_005744			81	81		412	402	1		1	1		0	0	68	0		1	1	0	27	0	114	0	81	412
GOLGA6B	55889	broad.mit.edu	37	15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	203						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587																																						ENST00000421285.3	1.000000	0.490000	7.700000e-01	5.700000e-01	0.650000	0.681945	0.650000	0.650000																										0				16						c.(607-609)caG>caT		golgin A6 family, member B							62.0	81.0	74.0					15																	72953649		1481	2647	4128	SO:0001583	missense	55889	0	0					g.chr15:72953649G>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.609G>T	chr15.hg19:g.72953649G>T	ENSP00000408132:p.Gln203His	1						p.Q203H	NM_018652.4	NP_061122.4	1	3	4	2.292824	A6NDN3	GOG6B_HUMAN		8	609	+			A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	1	1	hg19	c.609G>T	CCDS10245.2	0	.	.	.	.	.	.	.	.	.	.	.	9.908	1.208805	0.22205	.	.	ENSG00000215186	ENST00000421285	T	0.22945	1.93	0.39	0.39	0.16275	0.39	0.39	0.16275	.	.	.	.	.	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	1	D	0.54397	0.966	P	0.61592	0.891	T	0.12656	-1.0539	9	0.49607	T	0.09	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	203	A6NDN3	GOG6B_HUMAN	H	203	ENSP00000408132:Q203H	ENSP00000408132:Q203H	Q	+	3	2	2	GOLGA6B	70740703	70740703	0.805000	0.28982	0.008000	0.14137	0.007000	0.05969	2.996000	0.49449	0.472000	0.27344	0.134000	0.15878	CAG	2.811986e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	0	0	1		2	2	2	0		0	0	289		289	307	1	2.060000	-6.308494	1	0.170000	NM_018652			56	54		1118	1054	0		1			0	0	289	0		1	0	0	0	0	0	0	56	1118
BBS4	585	broad.mit.edu	37	15	72987519	72987519	+	Splice_Site	SNP	G	G	T	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000542334.1_Intron|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353									Bardet-Biedl syndrome																													ENST00000268057.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(25-27)aGa>aTa		Bardet-Biedl syndrome 4							75.0	78.0	77.0					15																	72987519		2198	4296	6494	SO:0001630	splice_region_variant	585	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr15:72987519G>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.25-1G>T	chr15.hg19:g.72987519G>T		0					BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17I	p.R9I	NM_033028.4	NP_149017.2	1	2	3	1.997959	Q96RK4	BBS4_HUMAN		2	67	+			B4E178|Q53DZ5|Q8NHU9|Q96H45	Splice_Site	SNP	ENST00000268057.4	1	0	hg19	c.26G>T	CCDS10246.1	1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395838	0.25205	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.71461	-0.55;-0.57	3.33	-0.121	0.13535	3.33	-0.121	0.13535	.	0.793638	0.11520	N	0.555855	T	0.46852	0.1414	N	0.11427	0.14	0.80722	D	1	P;B	0.35656	0.514;0.001	B;B	0.35688	0.208;0.002	T	0.22941	-1.0202	10	0.44086	T	0.13	-1.6484	5.3806	0.16189	0.5246:0.0:0.4754:0.0	.	17;9	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	9;17	ENSP00000268057:R9I;ENSP00000378631:R17I	ENSP00000268057:R9I	R	+	2	0	0	BBS4	70774572	70774572	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.039000	0.13884	-0.015000	0.14150	0.591000	0.81541	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.382313	1	0.170000	NM_033028	Missense_Mutation		45	45		217	203	1		1	1		0	0	46	0		1	9.997839e-01	0	16	0	48	0	45	217
BBS4	585	broad.mit.edu	37	15	73029167	73029167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73029167A>G	ENST00000268057.4	+	15	1354	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	438	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTCTGGACCAAACCAGTTAAA	0.507									Bardet-Biedl syndrome																													ENST00000268057.4	1.000000	0.130000	3.400000e-01	1.800000e-01	0.250000	0.298400	0.250000	0.240000																										0				19						c.(1312-1314)aAa>aGa		Bardet-Biedl syndrome 4							131.0	122.0	125.0					15																	73029167		2198	4297	6495	SO:0001583	missense	585	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr15:73029167A>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1313A>G	chr15.hg19:g.73029167A>G	ENSP00000268057:p.Lys438Arg	0					BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	p.K438R	NM_033028.4	NP_149017.2	1	2	3	1.997959	Q96RK4	BBS4_HUMAN		15	1354	+			B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	0	1	hg19	c.1313A>G	CCDS10246.1	0	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582989	0.65992	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.43152	1.355	0.54753	D	0.999987	B;B;B	0.21753	0.06;0.06;0.035	B;B;B	0.21917	0.037;0.037;0.016	T	0.78645	-0.2123	10	0.33141	T	0.24	-7.3833	14.7172	0.69277	1.0:0.0:0.0:0.0	.	426;446;438	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	R	266;438;426;446	ENSP00000445964:K266R;ENSP00000268057:K438R;ENSP00000442492:K426R;ENSP00000378631:K446R	ENSP00000268057:K438R	K	+	2	0	0	BBS4	70816220	70816220	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	6.216000	0.72212	2.219000	0.72066	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	0	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-10.445980	1	0.170000	NM_033028			13	13		625	614	0		1	1		0	0	173	0		9.994804e-01	4.987738e-01	0	2	0	76	0	13	625
ADPGK	83440	broad.mit.edu	37	15	73045191	73045191	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000456471.2_Silent_p.L54L|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	329	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493																																						ENST00000311669.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(982-984)Ctg>Ttg		ADP-dependent glucokinase							54.0	53.0	54.0					15																	73045191		1957	4147	6104	SO:0001819	synonymous_variant	83440	0	0					g.chr15:73045191G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.982C>T	chr15.hg19:g.73045191G>A		0					ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.L54L	p.L328L	NM_031284.4	NP_112574.3	1	2	3	1.997959	Q9BRR6	ADPGK_HUMAN		7	1075	-			Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	1	1	hg19	c.982C>T	CCDS42057.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_031284			63	63		229	219	1		1	1		0	0	67	0		1	1	0	33	0	162	0	63	229
NEO1	4756	broad.mit.edu	37	15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1	137	Ig-like C2-type 1.				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)			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						GAGAGTCTTGGAACTATTATC	0.343																																						ENST00000339362.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(409-411)gGa>gTa		neogenin 1							97.0	97.0	97.0					15																	73409160		2198	4296	6494	SO:0001583	missense	4756	0	0					g.chr15:73409160G>T	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.410G>T	chr15.hg19:g.73409160G>T	ENSP00000341198:p.Gly137Val	0					NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V	p.G137V			1	2	3	1.997959	Q92859	NEO1_HUMAN		3	857	+			B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	1	1	hg19	c.410G>T	CCDS10247.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675237	0.88445	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	H	0.95294	3.65	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	0.87943	0.2718	10	0.72032	D	0.01	-16.9501	20.33	0.98713	0.0:0.0:1.0:0.0	.	137;137;137	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	137	ENSP00000341198:G137V;ENSP00000261908:G137V	ENSP00000261908:G137V	G	+	2	0	0	NEO1	71196213	71196213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000	NM_002499			95	93		424	417	1		1	1		0	0	92	0		1	9.998157e-01	0	6	0	52	0	95	424
NEO1	4756	broad.mit.edu	37	15	73541462	73541462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73541462T>C	ENST00000339362.5	+	11	2115	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T			Q92859	NEO1_HUMAN	neogenin 1	556	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)			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						CCTCCATCACTGTTACGTGGG	0.428																																						ENST00000339362.5	1.000000	0.140000	3.700000e-01	1.900000e-01	0.260000	0.314816	0.260000	0.250000																										0				57						c.(1666-1668)acT>acC		neogenin 1							116.0	112.0	113.0					15																	73541462		2198	4297	6495	SO:0001819	synonymous_variant	4756	0	0					g.chr15:73541462T>C	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.1668T>C	chr15.hg19:g.73541462T>C		0					NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000560352.1_3'UTR	p.T556T			1	2	3	1.997959	Q92859	NEO1_HUMAN		11	2115	+			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	0	1	hg19	c.1668T>C	CCDS10247.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	1		2	2	2	0		0	0	97		97	94	1	2.060000	-10.075060	1	0.170000	NM_002499			12	12		542	532	0		1	1		0	0	97	0		9.990272e-01	7.195682e-01	0	4	0	110	0	12	542
NEO1	4756	broad.mit.edu	37	15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1	623	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)			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						TCCACACCAGATGTTGCTGTT	0.423																																						ENST00000339362.5	1.000000	0.220000	5.100000e-01	2.900000e-01	0.380000	0.423367	0.380000	0.370000																										0				57						c.(1867-1869)gAt>gGt		neogenin 1							189.0	171.0	177.0					15																	73542036		2198	4297	6495	SO:0001583	missense	4756	0	0					g.chr15:73542036A>G	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.1868A>G	chr15.hg19:g.73542036A>G	ENSP00000341198:p.Asp623Gly	0					NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G	p.D623G			1	2	3	1.997959	Q92859	NEO1_HUMAN		12	2315	+			B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	1	1	hg19	c.1868A>G	CCDS10247.1	0	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962056	0.92791	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.63046	0.992;0.48;0.801;0.953	D;P;P;P	0.71870	0.975;0.75;0.806;0.886	T	0.64542	-0.6383	10	0.46703	T	0.11	-22.4207	15.803	0.78471	1.0:0.0:0.0:0.0	.	623;623;361;623	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	G	623;361;623	ENSP00000341198:D623G;ENSP00000261908:D623G	ENSP00000261908:D623G	D	+	2	0	0	NEO1	71329089	71329089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.204000	0.95041	2.198000	0.70561	0.533000	0.62120	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-14.740870	1	0.170000	NM_002499			16	16		494	483	0		1	1		0	0	120	0		9.999221e-01	7.200263e-01	0	4	0	75	0	16	494
HCN4	10021	broad.mit.edu	37	15	73616569	73616569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	668					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)			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)		TGGCTGTGCGCCGGCCCCGGG	0.647																																						ENST00000261917.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2002-2004)cgG>cgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							51.0	43.0	46.0					15																	73616569		2197	4297	6494	SO:0001819	synonymous_variant	10021	0	0					g.chr15:73616569C>T	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.2004G>A	chr15.hg19:g.73616569C>T		0						p.R668R	NM_005477.2	NP_005468.1	1	2	3	1.997959	Q9Y3Q4	HCN4_HUMAN		7	2997	-			Q9UMQ7	Silent	SNP	ENST00000261917.3	1	1	hg19	c.2004G>A	CCDS10248.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_005477			68	68		246	240	0		1	0		0	0	46	0		1	0	0	1	0	0	0	68	246
HCN4	10021	broad.mit.edu	37	15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	521					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)			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)		CGGGAGGAGTCCAGGGACTGG	0.637																																						ENST00000261917.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1561-1563)Gac>Aac		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							72.0	65.0	67.0					15																	73621943		2198	4297	6495	SO:0001583	missense	10021	0	0					g.chr15:73621943C>T	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.1561G>A	chr15.hg19:g.73621943C>T	ENSP00000261917:p.Asp521Asn	0						p.D521N	NM_005477.2	NP_005468.1	1	2	3	1.997959	Q9Y3Q4	HCN4_HUMAN		4	2554	-			Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	1	1	hg19	c.1561G>A	CCDS10248.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114948	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.96554	-4.05	4.2	4.2	0.49525	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96787	0.8951	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95483	0.8562	9	0.21014	T	0.42	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	521	Q9Y3Q4	HCN4_HUMAN	N	521	ENSP00000261917:D521N	ENSP00000261917:D521N	D	-	1	0	0	HCN4	71408996	71408996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_005477			84	83		320	310	1		1	0		0	0	73	0		1	0	0	0	0	1	0	84	320
CD276	80381	broad.mit.edu	37	15	73994861	73994861	+	Silent	SNP	G	G	A	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A|CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18188	0.0		0.001	False		,,,				2504	0.0					ENST00000318443.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(343-345)gcG>gcA		CD276 molecule		G	,	22,4374	29.0+/-57.7	0,22,2176	43.0	37.0	39.0		345,345	-5.6	0.7	15	dbSNP_134	39	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	CD276	NM_001024736.1,NM_025240.2	,	0,24,6469	AA,AG,GG		0.0233,0.5005,0.1848	,	115/535,115/317	73994861	24,12962	2198	4295	6493	SO:0001819	synonymous_variant	80381	39	121366	47				g.chr15:73994861G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.345G>A	chr15.hg19:g.73994861G>A		0					CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A	p.A115A	NM_001024736.1	NP_001019907.1	1	2	3	1.997959	Q5ZPR3	CD276_HUMAN		3	647	+			Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Silent	SNP	ENST00000318443.5	1	1	hg19	c.345G>A	CCDS32288.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1		2	2	2	0		0	0	40		40	41	1	2.060000	-3.717428	1	0.170000	NM_025240			36	36		153	147	1		1	1		0	0	40	0		1	9.999514e-01	0	9	0	60	0	36	153
CD276	80381	broad.mit.edu	37	15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000537340.2_Missense_Mutation_p.L55V	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	201	Ig-like C2-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632																																						ENST00000318443.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999901	0.990000	1.000000																										0				13						c.(601-603)Ttg>Gtg		CD276 molecule							106.0	85.0	92.0					15																	73995295		2198	4297	6495	SO:0001583	missense	80381	0	0					g.chr15:73995295T>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.601T>G	chr15.hg19:g.73995295T>G	ENSP00000320084:p.Leu201Val	0					CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron	p.L201V	NM_001024736.1	NP_001019907.1	1	2	3	1.997959	Q5ZPR3	CD276_HUMAN		4	903	+			Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	1	1	hg19	c.601T>G	CCDS32288.1	1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595574	0.46318	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.80824	-1.42;-1.42	3.29	-3.87	0.04218	3.29	-3.87	0.04218	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89897	0.6848	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.994	D	0.89774	0.3956	9	0.87932	D	0	.	13.8295	0.63370	0.0:0.8405:0.0:0.1595	.	147;201;201	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	V	201;201;55	ENSP00000320084:L201V;ENSP00000441087:L55V	ENSP00000320084:L201V	L	+	1	2	2	CD276	71782348	71782348	0.053000	0.20554	0.962000	0.40283	0.127000	0.20565	0.193000	0.17116	-0.903000	0.03881	0.260000	0.18958	TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1		2	2	2	0		0	0	57		57	65	1	2.060000	-20.000000	1	0.170000	NM_025240			37	35		233	221	1		1	1		0	0	57	0		1	1	0	21	0	218	0	37	233
CD276	80381	broad.mit.edu	37	15	74003513	74003513	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000564751.1_Splice_Site|CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000537340.2_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532																																						ENST00000318443.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.e9+2		CD276 molecule							155.0	131.0	139.0					15																	74003513		2198	4297	6495	SO:0001630	splice_region_variant	80381	0	0					g.chr15:74003513T>C	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1582+2T>C	chr15.hg19:g.74003513T>C		0					CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000564751.1_Splice_Site		NM_001024736.1	NP_001019907.1	1	2	3	1.997959	Q5ZPR3	CD276_HUMAN		9	1884	+			Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Splice_Site	SNP	ENST00000318443.5	1	1	hg19		CCDS32288.1	1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973409	0.53614	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340	.	.	.	4.17	4.17	0.49024	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0701	0.59057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CD276	71790566	71790566	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.423000	0.59861	1.756000	0.51951	0.459000	0.35465	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_025240	Intron		59	57		294	286	1		1	1		0	0	81	0		1	3.367452e-01	0	4	0	3	0	59	294
PML	5371	broad.mit.edu	37	15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A	rs375594567		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000268058.3	+	3	1175	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000565898.1_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	360					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCGCCTGCGCCAGGAGGAG	0.677			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268058.3	1.000000	0.290000	7.600000e-01	4.000000e-01	0.550000	0.583465	0.550000	0.520000				Dom	yes			Dom	yes		15	15q22	15q22	5371	T	promyelocytic leukemia				L	L	RARA, PAX5		APL, ALL		0				31						c.(1078-1080)cGc>cAc		promyelocytic leukemia		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	23.0	26.0	25.0		1079,1079,1079,1079,1079,1079,1079,1079,1079	2.6	0.9	15		25	1,8539		0,1,4269	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	29,29,29,29,29,29,29,29,29	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	360/634,360/883,360/830,360/612,360/561,360/424,360/436,360/586,360/782	74315645	1,12907	2184	4270	6454	SO:0001583	missense	5371	5	121088	39				g.chr15:74315645G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1079G>A	chr15.hg19:g.74315645G>A	ENSP00000268058:p.Arg360His	0					PML_ENST00000565898.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H	p.R360H	NM_033238.2	NP_150241.2	1	2	3	1.997959	P29590	PML_HUMAN		3	1175	+			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	1	1	hg19	c.1079G>A	CCDS10255.1	0	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996970	0.35226	0.0	1.17E-4	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.48201	0.82	4.53	2.61	0.31194	4.53	2.61	0.31194	.	0.685983	0.13244	N	0.402604	T	0.59252	0.2180	L	0.59436	1.845	0.20196	N	0.999927	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.998;0.999;0.996;0.999;1.0;0.999;0.999;0.998;0.999;0.998	D;P;D;P;P;P;D;D;P;D;P;D;P	0.68621	0.949;0.775;0.959;0.877;0.9;0.899;0.91;0.923;0.868;0.931;0.799;0.909;0.89	T	0.42965	-0.9420	10	0.62326	D	0.03	-17.2149	7.2127	0.25943	0.209:0.0:0.791:0.0	.	360;310;360;360;360;360;360;360;360;360;360;360;363	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	360	ENSP00000268058:R360H	ENSP00000268058:R360H	R	+	2	0	0	PML	72102698	72102698	0.369000	0.25039	0.944000	0.38274	0.040000	0.13550	1.448000	0.35112	1.136000	0.42199	-0.379000	0.06801	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.351574	1	0.170000	NM_002675			11	11		236	234	0		1	1		0	0	57	0		9.983690e-01	9.769600e-01	0	7	0	133	0	11	236
PML	5371	broad.mit.edu	37	15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000268058.3	+	6	1726	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron|PML_ENST00000565898.1_Missense_Mutation_p.H496Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000359928.4_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	544	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268058.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q22	15q22	5371	T	promyelocytic leukemia				L	L	RARA, PAX5		APL, ALL		0				31						c.(1630-1632)Cac>Tac		promyelocytic leukemia							47.0	47.0	47.0					15																	74325728		2198	4297	6495	SO:0001583	missense	5371	0	0					g.chr15:74325728C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1630C>T	chr15.hg19:g.74325728C>T	ENSP00000268058:p.His544Tyr	0					PML_ENST00000565898.1_Missense_Mutation_p.H496Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_Missense_Mutation_p.H544Y	p.H544Y	NM_033238.2	NP_150241.2	1	2	3	1.997959	P29590	PML_HUMAN		6	1726	+			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	1	1	hg19	c.1630C>T	CCDS10255.1	1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505103	0.64410	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.47869	0.83	4.81	3.83	0.44106	4.81	3.83	0.44106	.	3.797720	0.00397	N	0.000054	T	0.65502	0.2697	M	0.61703	1.905	0.31687	N	0.64232	B;P;P;P;P;D;D;B;B;D	0.62365	0.003;0.917;0.952;0.952;0.952;0.991;0.986;0.01;0.003;0.986	B;P;B;P;P;P;P;B;B;P	0.59115	0.004;0.472;0.439;0.536;0.536;0.852;0.536;0.006;0.004;0.842	T	0.53472	-0.8434	10	0.59425	D	0.04	-32.366	10.8648	0.46849	0.1874:0.8126:0.0:0.0	.	544;544;496;496;544;496;544;544;544;499	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	Y	544;544;544;544;544;496;105;544	ENSP00000268058:H544Y	ENSP00000268058:H544Y	H	+	1	0	0	PML	72112781	72112781	0.733000	0.28132	0.918000	0.36340	0.060000	0.15804	1.853000	0.39358	2.386000	0.81285	0.549000	0.68633	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-2.969353	1	0.170000	NM_002675			58	55		329	325	1		1	1		0	0	52	0		1	1	0	68	0	225	0	58	329
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632																																						ENST00000361742.3			0	0																														0				36						c.(178-180)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							72.0	60.0	64.0					15																	74425273		2198	4297	6495	SO:0001583	missense	57611	0	0					g.chr15:74425273G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.178G>A	chr15.hg19:g.74425273G>A	ENSP00000355402:p.Ala60Thr						ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T	p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1					Q6UXK2	ISLR2_HUMAN		4	947	+			A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	1	1	hg19	c.178G>A	CCDS10259.1		.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	0	ISLR2	72212326	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG			TCGA-IB-7651-01A-11D-2154-08	0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_020851			109	108		418	414	1		1	1		0	0	104	0		1	9.704078e-01	0	7	0	17	0	109	418
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	87					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632																																						ENST00000249842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(259-261)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat							37.0	39.0	38.0					15																	74467458		2198	4297	6495	SO:0001583	missense	3671	0	0					g.chr15:74467458C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.259C>T	chr15.hg19:g.74467458C>T	ENSP00000249842:p.Arg87Cys	0					ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	p.R87C	NM_005545.3	NP_005536.1	0	1	1	1.986442	O14498	ISLR_HUMAN		2	616	+				Missense_Mutation	SNP	ENST00000249842.3	1	1	hg19	c.259C>T	CCDS10260.1	1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098976	0.37048	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.05	0.35203	4.05	3.05	0.35203	.	0.269415	0.25622	U	0.029420	T	0.50514	0.1620	L	0.38692	1.165	0.29700	N	0.840249	D	0.76494	0.999	P	0.60541	0.876	T	0.50668	-0.8801	10	0.54805	T	0.06	.	2.1307	0.03749	0.2833:0.3843:0.2311:0.1013	.	87	O14498	ISLR_HUMAN	C	87	ENSP00000249842:R87C;ENSP00000378550:R87C	ENSP00000249842:R87C	R	+	1	0	0	ISLR	72254511	72254511	0.872000	0.30054	0.960000	0.40013	0.520000	0.34377	1.133000	0.31430	1.822000	0.53115	0.313000	0.20887	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-2.983498	1	0.170000	NM_005545			62	61		291	289	1		1	0		0	0	50	0		1	1	0	1	0	674	0	62	291
ISLR	3671	broad.mit.edu	37	15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	193	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657																																						ENST00000249842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(577-579)aCa>aTa		immunoglobulin superfamily containing leucine-rich repeat							56.0	47.0	50.0					15																	74467777		2198	4297	6495	SO:0001583	missense	3671	0	0					g.chr15:74467777C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.578C>T	chr15.hg19:g.74467777C>T	ENSP00000249842:p.Thr193Ile	0					ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	p.T193I	NM_005545.3	NP_005536.1	0	1	1	1.986442	O14498	ISLR_HUMAN		2	935	+				Missense_Mutation	SNP	ENST00000249842.3	1	1	hg19	c.578C>T	CCDS10260.1	1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168026	0.06461	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52983	0.64;0.64	4.05	2.86	0.33363	4.05	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	1.087340	0.07255	U	0.866544	T	0.37183	0.0994	L	0.49350	1.555	0.09310	N	1	B	0.27625	0.183	B	0.16289	0.015	T	0.32161	-0.9917	10	0.42905	T	0.14	.	2.7872	0.05377	0.3256:0.4383:0.1303:0.1058	.	193	O14498	ISLR_HUMAN	I	193	ENSP00000249842:T193I;ENSP00000378550:T193I	ENSP00000249842:T193I	T	+	2	0	0	ISLR	72254830	72254830	0.469000	0.25846	0.855000	0.33649	0.120000	0.20174	1.615000	0.36922	1.822000	0.53115	0.313000	0.20887	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_005545			56	55		233	229	1		1	0		0	0	41	0		1	1	0	1	0	772	0	56	233
SEMA7A	8482	broad.mit.edu	37	15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542																																						ENST00000261918.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(796-798)tGc>tAc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							185.0	152.0	163.0					15																	74708920		2197	4296	6493	SO:0001583	missense	8482	0	0					g.chr15:74708920C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.797G>A	chr15.hg19:g.74708920C>T	ENSP00000261918:p.Cys266Tyr	0					SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y	p.C266Y	NM_003612.3	NP_003603.1	0	1	1	1.986442	O75326	SEM7A_HUMAN		7	1345	-			B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	1	1	hg19	c.797G>A	CCDS10262.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439914	0.63067	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	D;D;D	0.90133	-2.62;-2.62;-2.62	5.39	5.39	0.77823	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97514	1.0068	10	0.87932	D	0	-31.9584	16.9441	0.86226	0.0:1.0:0.0:0.0	.	252;266	F5H1S0;O75326	.;SEM7A_HUMAN	Y	266;252;101	ENSP00000261918:C266Y;ENSP00000438966:C252Y;ENSP00000441493:C101Y	ENSP00000261918:C266Y	C	-	2	0	0	SEMA7A	72495973	72495973	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.368000	0.59505	2.525000	0.85131	0.655000	0.94253	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_003612			40	40		190	180	1		1	1		0	0	52	0		1	9.998938e-01	0	12	0	57	0	40	190
ARID3B	10620	broad.mit.edu	37	15	74882175	74882175	+	Nonsense_Mutation	SNP	C	C	T	rs148447597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74882175C>T	ENST00000346246.5	+	5	943	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	238	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Interaction with RB1.					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)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCATCAACCGAATCCCCAT	0.522																																						ENST00000346246.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(712-714)Cga>Tga		AT rich interactive domain 3B (BRIGHT-like)							90.0	78.0	82.0					15																	74882175		2197	4296	6493	SO:0001587	stop_gained	10620	0	0					g.chr15:74882175C>T		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.712C>T	chr15.hg19:g.74882175C>T	ENSP00000343126:p.Arg238*	0						p.R238*	NM_006465.2	NP_006456.1	0	1	1	1.986442	Q8IVW6	ARI3B_HUMAN		5	943	+			O95443|Q59HC9|Q6P9C9	Nonsense_Mutation	SNP	ENST00000346246.5	0	0	hg19	c.712C>T	CCDS10264.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.607772	0.97701	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6754	14.6832	0.69033	0.1542:0.8458:0.0:0.0	.	.	.	.	X	238	.	ENSP00000343126:R238X	R	+	1	2	2	ARID3B	72669228	72669228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.455000	0.83008	0.591000	0.81541	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.719957	1	0.170000	NM_006465			61	61		323	317	1		1	1		0	0	88	0		1	8.267832e-01	0	2	0	17	0	61	323
CLK3	1198	broad.mit.edu	37	15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	154					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACTGTAAGCGATACCGCTCC	0.602																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3	0.750000	0.420000	6.700000e-01	4.900000e-01	0.570000	0.585711	0.570000	0.580000																										0				15						c.(460-462)cGa>cAa		CDC-like kinase 3							184.0	174.0	177.0					15																	74911554		2197	4296	6493	SO:0001583	missense	1198	3	121412	38				g.chr15:74911554G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.461G>A	chr15.hg19:g.74911554G>A	ENSP00000378505:p.Arg154Gln	0					CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	p.R154Q	NM_001130028.1	NP_001123500.1	0	1	1	1.986442	P49761	CLK3_HUMAN		2	922	+			D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	1	1	hg19	c.461G>A	CCDS45304.1	0	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924401	0.73213	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.55234	0.53;0.77	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000016	T	0.60248	0.2254	L	0.27053	0.805	0.42845	D	0.994061	D;D;D	0.89917	0.997;1.0;0.99	D;D;P	0.78314	0.968;0.991;0.776	T	0.64123	-0.6481	10	0.56958	D	0.05	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	154;154;6	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	Q	6;6;154;6;6	ENSP00000344112:R6Q;ENSP00000323106:R6Q	ENSP00000344112:R6Q	R	+	2	0	0	CLK3	72698607	72698607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.093000	0.64517	2.405000	0.81733	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3	1	0	0		2	2	2	0		0	0	177		177	175	1	2.060000	-5.795259	1	0.170000				46	44		887	872	0		1	1		0	0	177	0		1	9.128307e-01	0	5	0	76	0	46	887
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(547-549)Cga>Tga		CDC-like kinase 3							161.0	139.0	146.0					15																	74911640		2197	4296	6493	SO:0001587	stop_gained	1198	0	0					g.chr15:74911640C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.547C>T	chr15.hg19:g.74911640C>T	ENSP00000378505:p.Arg183*	0					CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	p.R183*	NM_001130028.1	NP_001123500.1	0	1	1	1.986442	P49761	CLK3_HUMAN		2	1008	+			D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	0	1	hg19	c.547C>T	CCDS45304.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929923	0.92389	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	.	.	.	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.514121	0.17940	N	0.156900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.699	0.77528	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;183;35;35	.	ENSP00000344112:R35X	R	+	1	2	2	CLK3	72698693	72698693	0.998000	0.40836	0.979000	0.43373	0.949000	0.60115	2.819000	0.48049	2.464000	0.83262	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3	1	0	0		2	2	2	0		0	0	125		125	123	1	2.060000	-20.000000	1	0.170000				112	111		590	577	0		1	1		0	0	125	0		1	9.999936e-01	0	4	0	85	0	112	590
EDC3	80153	broad.mit.edu	37	15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y|EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438																																						ENST00000315127.4	1.000000	0.750000	1	8.800000e-01	0.990000	0.959031	0.990000	1.000000																										0				16						c.(502-504)Cac>Tac		enhancer of mRNA decapping 3							75.0	72.0	73.0					15																	74948392		2197	4296	6493	SO:0001583	missense	80153	0	0					g.chr15:74948392G>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.502C>T	chr15.hg19:g.74948392G>A	ENSP00000320503:p.His168Tyr	0					EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y	p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	0	1	1	1.986442	Q96F86	EDC3_HUMAN		4	683	-			B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	1	1	hg19	c.502C>T	CCDS10267.1	1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158716	0.09236	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.290119	0.38959	N	0.001513	T	0.29389	0.0732	N	0.04508	-0.205	0.36208	D	0.851152	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.27082	T	0.32	-10.107	11.6774	0.51438	0.0809:0.0:0.9191:0.0	.	168	Q96F86	EDC3_HUMAN	Y	168	.	ENSP00000320503:H168Y	H	-	1	0	0	EDC3	72735445	72735445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.535000	0.85469	0.655000	0.94253	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-11.656020	1	0.170000	NM_025083			37	36		379	373	1		1	1		0	0	87	0		1	9.958620e-01	0	9	0	79	0	37	379
CYP1A1	1543	broad.mit.edu	37	15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000379727.3	-	2	916	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	240					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGGTAGCGAAGAATAGGGATG	0.473									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(718-720)Ctt>Att		cytochrome P450, family 1, subfamily A, polypeptide 1	Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)						96.0	93.0	94.0					15																	75014721		2197	4296	6493	SO:0001583	missense	1543	0	0		Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	g.chr15:75014721G>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.718C>A	chr15.hg19:g.75014721G>T	ENSP00000369050:p.Leu240Ile	0					CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I	p.L240I			0	1	1	1.986442	P04798	CP1A1_HUMAN		2	916	-			A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	1	1	hg19	c.718C>A	CCDS10268.1	1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919052	0.73098	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.71579	-0.58;-0.58;-0.58	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.968	D;D	0.74348	0.983;0.936	D	0.87143	0.2204	10	0.56958	D	0.05	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	240;240	E7EMT5;P04798	.;CP1A1_HUMAN	I	240	ENSP00000369050:L240I;ENSP00000378488:L240I;ENSP00000378489:L240I	ENSP00000369050:L240I	L	-	1	0	0	CYP1A1	72801774	72801774	1.000000	0.71417	0.725000	0.30721	0.863000	0.49368	6.597000	0.74118	2.322000	0.78497	0.555000	0.69702	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_000499			54	53		285	278	1		1			0	0	41	0		1	0	0	0	0	0	0	54	285
CYP1A2	1544	broad.mit.edu	37	15	75042451	75042451	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	124					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGAGCTTGACCTTCAGCACAG	0.642																																						ENST00000343932.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(370-372)acC>acA		cytochrome P450, family 1, subfamily A, polypeptide 2	"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"						82.0	79.0	80.0					15																	75042451		2197	4295	6492	SO:0001819	synonymous_variant	1544	0	0					g.chr15:75042451C>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.372C>A	chr15.hg19:g.75042451C>A		0						p.T124T	NM_000761.3	NP_000752.2	0	1	1	1.986442	P05177	CP1A2_HUMAN		2	435	+			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	1	1	hg19	c.372C>A	CCDS32293.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	1	0	1		2	2	2	0		0	0	147		147	144	1	2.060000	-20.000000	1	0.170000	NM_000761			180	179		651	643	1		1			0	0	147	0		1	0	0	0	0	0	0	180	651
LMAN1L	79748	broad.mit.edu	37	15	75114202	75114202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.T352T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	364						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607																																						ENST00000309664.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1090-1092)acC>acT		lectin, mannose-binding, 1 like							75.0	73.0	74.0					15																	75114202		2197	4296	6493	SO:0001819	synonymous_variant	79748	0	0					g.chr15:75114202C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1092C>T	chr15.hg19:g.75114202C>T		0					LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	p.T364T	NM_021819.2	NP_068591.2	0	1	1	1.986442	Q9HAT1	LMA1L_HUMAN		10	1231	+			Q6UWN2	Silent	SNP	ENST00000309664.5	1	1	hg19	c.1092C>T	CCDS10270.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	0	0	1		15	2	2	1		1	1	128		128	127	1	2.060000	-3.224279	1	0.170000				80	74		434	426	1		1			1	0	128	0		1	0	0	0	0	0	0	80	434
LMAN1L	79748	broad.mit.edu	37	15	75116790	75116790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.T462T|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	474						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597																																						ENST00000309664.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1420-1422)acT>acC		lectin, mannose-binding, 1 like							120.0	117.0	118.0					15																	75116790		2197	4295	6492	SO:0001819	synonymous_variant	79748	0	0					g.chr15:75116790T>C	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1422T>C	chr15.hg19:g.75116790T>C		0					LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	p.T474T	NM_021819.2	NP_068591.2	0	1	1	1.986442	Q9HAT1	LMA1L_HUMAN		13	1561	+			Q6UWN2	Silent	SNP	ENST00000309664.5	1	1	hg19	c.1422T>C	CCDS10270.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-20.000000	1	0.170000				166	164		750	730	1		1			0	0	171	0		1	0	0	0	0	0	0	166	750
ULK3	25989	broad.mit.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627																																						ENST00000440863.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				2						c.(1027-1029)Gag>Aag		unc-51 like kinase 3							33.0	36.0	35.0					15																	75131059		1963	4154	6117	SO:0001583	missense	25989	0	0					g.chr15:75131059C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1027G>A	chr15.hg19:g.75131059C>T	ENSP00000400312:p.Glu343Lys	0					ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	p.E343K	NM_001099436.1	NP_001092906	0	1	1	1.986442	Q6PHR2	ULK3_HUMAN		10	1118	-			B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	1	1	hg19	c.1027G>A	CCDS45305.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	0	ULK3	72918112	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_015518			23	23		78	75	1		1	1		0	0	24	0		9.999997e-01	9.999874e-01	0	27	0	43	0	23	78
ULK3	25989	broad.mit.edu	37	15	75133792	75133792	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537																																						ENST00000440863.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				2						c.(421-423)caG>caA		unc-51 like kinase 3							116.0	122.0	120.0					15																	75133792		1990	4168	6158	SO:0001819	synonymous_variant	25989	0	0					g.chr15:75133792C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.423G>A	chr15.hg19:g.75133792C>T		0					ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	p.Q141Q	NM_001099436.1	NP_001092906	0	1	1	1.986442	Q6PHR2	ULK3_HUMAN		4	514	-			B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Silent	SNP	ENST00000440863.2	1	1	hg19	c.423G>A	CCDS45305.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.345991	1	0.170000	NM_015518			30	30		164	161	1		1	1		0	0	45	0		1	9.998078e-01	0	13	0	63	0	30	164
MPI	4351	broad.mit.edu	37	15	75190002	75190002	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N			P34949	MPI_HUMAN	mannose phosphate isomerase	401					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567																																						ENST00000352410.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1201-1203)aaT>aaC		mannose phosphate isomerase							192.0	167.0	175.0					15																	75190002		2197	4295	6492	SO:0001819	synonymous_variant	4351	0	0					g.chr15:75190002T>C		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1203T>C	chr15.hg19:g.75190002T>C		0					MPI_ENST00000566377.1_3'UTR|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000563786.1_Silent_p.N381N	p.N401N			0	1	1	1.986442	P34949	MPI_HUMAN		8	1270	+			A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	1	1	hg19	c.1203T>C	CCDS10272.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				76	76		346	338	1		1	1		0	0	71	0		1	1	0	42	0	71	0	76	346
SCAMP5	192683	broad.mit.edu	37	15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	87					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587																																						ENST00000361900.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(259-261)Gtc>Atc		secretory carrier membrane protein 5							126.0	125.0	125.0					15																	75309056		2135	4236	6371	SO:0001583	missense	192683	0	0					g.chr15:75309056G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.259G>A	chr15.hg19:g.75309056G>A	ENSP00000355387:p.Val87Ile	0					SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000565923.1_3'UTR	p.V87I	NM_001178111.1	NP_001171582.1	0	1	1	1.986442	Q8TAC9	SCAM5_HUMAN		5	466	+			B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	1	1	hg19	c.259G>A	CCDS45306.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864774	0.91511	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18502	2.21;2.21	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.76071	0.987;0.6	T	0.08932	-1.0698	10	0.52906	T	0.07	-7.7649	17.294	0.87164	0.0:0.0:1.0:0.0	.	87;87	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	I	87	ENSP00000355387:V87I;ENSP00000406547:V87I	ENSP00000355387:V87I	V	+	1	0	0	SCAMP5	73096109	73096109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.391000	0.81399	0.561000	0.74099	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_138967			81	80		396	382	1		1	0		0	0	83	0		1	5.292171e-01	0	1	0	9	0	81	396
SCAMP5	192683	broad.mit.edu	37	15	75310804	75310804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000425597.3_Silent_p.S147S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582																																						ENST00000361900.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(439-441)tcG>tcA		secretory carrier membrane protein 5							174.0	163.0	167.0					15																	75310804		2031	4187	6218	SO:0001819	synonymous_variant	192683	0	0					g.chr15:75310804G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.441G>A	chr15.hg19:g.75310804G>A		0					SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000568081.1_Silent_p.S80S	p.S147S	NM_001178111.1	NP_001171582.1	0	1	1	1.986442	Q8TAC9	SCAM5_HUMAN		7	648	+			B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	1	1	hg19	c.441G>A	CCDS45306.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	1	0	1		2	2	2	0		0	0	186		186	180	1	2.060000	-2.523161	1	0.170000	NM_138967			159	155		838	806	1		1	1		0	0	186	0		1	9.838889e-01	0	4	0	32	0	159	838
C15orf39	56905	broad.mit.edu	37	15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	432						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642																																						ENST00000360639.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1294-1296)cCt>cAt		chromosome 15 open reading frame 39							34.0	39.0	38.0					15																	75499684		2197	4294	6491	SO:0001583	missense	56905	0	0					g.chr15:75499684C>A	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.1295C>A	chr15.hg19:g.75499684C>A	ENSP00000353854:p.Pro432His	0					C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H	p.P432H			0	1	1	1.986442	Q6ZRI6	CO039_HUMAN		2	1615	+			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	1	1	hg19	c.1295C>A	CCDS10276.1	1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104607	0.20632	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69926	-0.44;-0.44	4.89	3.97	0.46021	4.89	3.97	0.46021	.	0.193003	0.33895	N	0.004454	T	0.72550	0.3474	L	0.60455	1.87	0.37175	D	0.903238	D	0.71674	0.998	P	0.61003	0.882	T	0.77835	-0.2440	10	0.87932	D	0	-3.5373	8.1575	0.31178	0.0:0.8921:0.0:0.1079	.	432	Q6ZRI6	CO039_HUMAN	H	432	ENSP00000353854:P432H;ENSP00000378438:P432H	ENSP00000353854:P432H	P	+	2	0	0	C15orf39	73286737	73286737	0.005000	0.15991	0.436000	0.26797	0.255000	0.26057	0.529000	0.23019	2.280000	0.76307	0.462000	0.41574	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_015492			66	64		380	372	1		1	1		0	0	89	0		1	9.963371e-01	0	9	0	42	0	66	380
C15orf39	56905	broad.mit.edu	37	15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T	rs543541900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	481						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17621	0.0		0.0	False		,,,				2504	0.0					ENST00000360639.2	1.000000	0.720000	1	8.400000e-01	0.980000	0.940863	0.980000	1.000000																										0				16						c.(1441-1443)Cgg>Tgg		chromosome 15 open reading frame 39							45.0	50.0	48.0					15																	75499830		2197	4294	6491	SO:0001583	missense	56905	1	121412	29				g.chr15:75499830C>T	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.1441C>T	chr15.hg19:g.75499830C>T	ENSP00000353854:p.Arg481Trp	0					C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W	p.R481W			0	1	1	1.986442	Q6ZRI6	CO039_HUMAN		2	1761	+			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	1	1	hg19	c.1441C>T	CCDS10276.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999260	0.35226	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.2	0.504	0.16946	5.2	0.504	0.16946	.	1.000980	0.08061	N	0.998225	T	0.42630	0.1211	N	0.08118	0	0.23966	N	0.996329	D	0.60160	0.987	B	0.43783	0.431	T	0.38779	-0.9645	10	0.72032	D	0.01	-2.613	8.491	0.33100	0.4953:0.3806:0.1241:0.0	.	481	Q6ZRI6	CO039_HUMAN	W	481	ENSP00000353854:R481W;ENSP00000378438:R481W	ENSP00000353854:R481W	R	+	1	2	2	C15orf39	73286883	73286883	0.005000	0.15991	0.942000	0.38095	0.602000	0.36980	0.424000	0.21330	0.533000	0.28675	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1		2	2	2	0		0	0	87		87	84	1	2.060000	-2.744762	1	0.170000	NM_015492			40	39		433	419	0		1	1		0	0	87	0		1	9.911306e-01	0	5	0	75	0	40	433
C15orf39	56905	broad.mit.edu	37	15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	619						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567																																						ENST00000360639.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1855-1857)Aaa>Gaa		chromosome 15 open reading frame 39							54.0	46.0	49.0					15																	75500244		2197	4295	6492	SO:0001583	missense	56905	0	0					g.chr15:75500244A>G	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.1855A>G	chr15.hg19:g.75500244A>G	ENSP00000353854:p.Lys619Glu	0					C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E	p.K619E			0	1	1	1.986442	Q6ZRI6	CO039_HUMAN		2	2175	+			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	1	1	hg19	c.1855A>G	CCDS10276.1	1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966688	0.53507	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.81078	-1.45;-1.45	4.89	1.0	0.19881	4.89	1.0	0.19881	.	0.441548	0.22792	N	0.055595	T	0.59004	0.2162	N	0.21448	0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.003;0.004	T	0.33828	-0.9853	10	0.09590	T	0.72	-0.4539	3.9376	0.09313	0.3225:0.3998:0.2777:0.0	.	181;619	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	619;619;17	ENSP00000353854:K619E;ENSP00000378438:K619E	ENSP00000353854:K619E	K	+	1	0	0	C15orf39	73287297	73287297	0.030000	0.19436	0.020000	0.16555	0.782000	0.44232	1.660000	0.37397	0.193000	0.20303	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_015492			49	46		192	188	1		1	1		0	0	41	0		1	9.999465e-01	0	11	0	50	0	49	192
C15orf39	56905	broad.mit.edu	37	15	75500779	75500779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500779C>A	ENST00000360639.2	+	2	2710	c.2390C>A	c.(2389-2391)gCt>gAt	p.A797D	C15orf39_ENST00000394987.4_Missense_Mutation_p.A797D|C15orf39_ENST00000567617.1_Missense_Mutation_p.A797D|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	797						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAGAGACGGCTGGGCCCTGG	0.637																																						ENST00000360639.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999402	0.990000	1.000000																										0				16						c.(2389-2391)gCt>gAt		chromosome 15 open reading frame 39							19.0	17.0	18.0					15																	75500779		2191	4294	6485	SO:0001583	missense	56905	0	0					g.chr15:75500779C>A	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.2390C>A	chr15.hg19:g.75500779C>A	ENSP00000353854:p.Ala797Asp	0					C15orf39_ENST00000394987.4_Missense_Mutation_p.A797D|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_Missense_Mutation_p.A797D	p.A797D			0	1	1	1.986442	Q6ZRI6	CO039_HUMAN		2	2710	+			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	1	0	hg19	c.2390C>A	CCDS10276.1	1	.	.	.	.	.	.	.	.	.	.	C	8.265	0.812139	0.16537	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38722	1.12;1.12	5.37	4.43	0.53597	5.37	4.43	0.53597	.	0.689440	0.14516	N	0.314744	T	0.40979	0.1139	L	0.50333	1.59	0.09310	N	1	B;B	0.33637	0.42;0.42	B;B	0.35240	0.087;0.198	T	0.35525	-0.9785	10	0.66056	D	0.02	-3.4692	12.5436	0.56186	0.1794:0.8206:0.0:0.0	.	359;797	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	D	797;797;195	ENSP00000353854:A797D;ENSP00000378438:A797D	ENSP00000353854:A797D	A	+	2	0	0	C15orf39	73287832	73287832	0.002000	0.14202	0.005000	0.12908	0.085000	0.17905	1.330000	0.33781	1.174000	0.42811	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	0		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000	NM_015492			14	14		59	57	1		1	1		0	0	16	0		9.998238e-01	9.997592e-01	0	16	0	52	0	14	59
MAN2C1	4123	broad.mit.edu	37	15	75653521	75653521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000267978.5	-	12	1372	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_ENST00000565683.1_Silent_p.T442T|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000563622.1_Silent_p.T343T	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	442					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657																																						ENST00000267978.5	1.000000	0.850000	1	9.900000e-01	0.990000	0.991081	0.990000	1.000000																										0				44						c.(1324-1326)acC>acT		mannosidase, alpha, class 2C, member 1							58.0	57.0	57.0					15																	75653521		2197	4293	6490	SO:0001819	synonymous_variant	4123	7	121396	35				g.chr15:75653521G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1326C>T	chr15.hg19:g.75653521G>A		0					MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000565683.1_Silent_p.T442T	p.T442T	NM_006715.3	NP_006706.2	0	1	1	1.986442	Q9NTJ4	MA2C1_HUMAN		12	1372	-			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	1	1	hg19	c.1326C>T	CCDS32298.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.161608	1	0.170000				13	12		87	87	1		1	1		0	0	25	0		9.996325e-01	9.998939e-01	0	22	0	96	0	13	87
SIN3A	25942	broad.mit.edu	37	15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D|SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											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						CATGGTAAAGGCAATGTAGGC	0.498																																						ENST00000394947.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2980-2982)gCc>gAc		SIN3 transcription regulator family member A							220.0	163.0	182.0					15																	75682033		2197	4294	6491	SO:0001583	missense	25942	0	0					g.chr15:75682033G>T	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.2981C>A	chr15.hg19:g.75682033G>T	ENSP00000378402:p.Ala994Asp	0					SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	p.A994D	NM_001145358.1	NP_001138830.1	0	1	1	1.986442				16	3295	-				Missense_Mutation	SNP	ENST00000394947.3	1	1	hg19	c.2981C>A	CCDS10279.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783921	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	T	0.63915	-0.6529	10	0.48119	T	0.1	-15.6064	18.4191	0.90582	0.0:0.0:1.0:0.0	.	994	Q96ST3	SIN3A_HUMAN	D	994	ENSP00000378402:A994D;ENSP00000378403:A994D;ENSP00000353622:A994D	ENSP00000353622:A994D	A	-	2	0	0	SIN3A	73469086	73469086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.592000	0.87571	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_015477			74	71		355	343	1		1	1		0	0	99	0		1	1	0	39	0	97	0	74	355
SIN3A	25942	broad.mit.edu	37	15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I|SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											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						AATGGCAGGGCTGTCACTCTT	0.502																																						ENST00000394947.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2818-2820)aGc>aTc		SIN3 transcription regulator family member A							182.0	168.0	173.0					15																	75684615		2197	4294	6491	SO:0001583	missense	25942	0	0					g.chr15:75684615C>A	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.2819G>T	chr15.hg19:g.75684615C>A	ENSP00000378402:p.Ser940Ile	0					SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	p.S940I	NM_001145358.1	NP_001138830.1	0	1	1	1.986442				15	3133	-				Missense_Mutation	SNP	ENST00000394947.3	1	1	hg19	c.2819G>T	CCDS10279.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951296	0.73787	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48201	0.82;0.82;0.82	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.036039	0.85682	D	0.000000	T	0.55705	0.1937	M	0.61703	1.905	0.80722	D	1	P	0.45474	0.859	P	0.46543	0.52	T	0.54675	-0.8258	10	0.45353	T	0.12	-19.3019	19.0195	0.92908	0.0:1.0:0.0:0.0	.	940	Q96ST3	SIN3A_HUMAN	I	940	ENSP00000378402:S940I;ENSP00000378403:S940I;ENSP00000353622:S940I	ENSP00000353622:S940I	S	-	2	0	0	SIN3A	73471668	73471668	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.715000	0.61909	2.746000	0.94184	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	0		2	2	2	0		0	0	147		147	144	1	2.060000	-20.000000	1	0.170000	NM_015477			177	174		654	644	1		1	1		0	0	147	0		1	1	0	25	0	81	0	177	654
SIN3A	25942	broad.mit.edu	37	15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											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						AGCACTTCCCGTTCCCATTCT	0.502																																						ENST00000394947.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2782-2784)Cgg>Tgg		SIN3 transcription regulator family member A							190.0	173.0	179.0					15																	75684652		2197	4294	6491	SO:0001583	missense	25942	0	0					g.chr15:75684652G>A	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.2782C>T	chr15.hg19:g.75684652G>A	ENSP00000378402:p.Arg928Trp	0					SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	p.R928W	NM_001145358.1	NP_001138830.1	0	1	1	1.986442				15	3096	-				Missense_Mutation	SNP	ENST00000394947.3	1	1	hg19	c.2782C>T	CCDS10279.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703670	0.68501	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50001	0.76;0.76;0.76	5.6	4.68	0.58851	5.6	4.68	0.58851	.	0.048289	0.85682	D	0.000000	T	0.66157	0.2761	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69847	-0.5034	10	0.87932	D	0	-13.6199	12.4793	0.55833	0.0:0.0:0.5775:0.4225	.	928	Q96ST3	SIN3A_HUMAN	W	928	ENSP00000378402:R928W;ENSP00000378403:R928W;ENSP00000353622:R928W	ENSP00000353622:R928W	R	-	1	2	2	SIN3A	73471705	73471705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.362000	0.46000	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	0		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_015477			149	148		684	675	1		1	1		0	0	153	0		1	1	0	38	0	98	0	149	684
SNX33	257364	broad.mit.edu	37	15	75942240	75942240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942240G>A	ENST00000308527.5	+	1	1994	c.797G>A	c.(796-798)cGc>cAc	p.R266H	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R266H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTCTACCGGCGCTACAAACAC	0.552																																						ENST00000308527.5	0.350000	0.140000	2.900000e-01	1.800000e-01	0.230000	0.241032	0.230000	0.230000																										1	Substitution - Missense(1)	p.R266H(1)	large_intestine(1)	19						c.(796-798)cGc>cAc		sorting nexin 33							147.0	136.0	140.0					15																	75942240		2197	4294	6491	SO:0001583	missense	257364	0	0					g.chr15:75942240G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.797G>A	chr15.hg19:g.75942240G>A	ENSP00000311427:p.Arg266His	0					IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	p.R266H	NM_153271.1	NP_695003.1	0	1	1	1.986442	Q8WV41	SNX33_HUMAN		1	1994	+			B1NM17	Missense_Mutation	SNP	ENST00000308527.5	0	1	hg19	c.797G>A	CCDS10283.1	0	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448401	0.43429	.	.	ENSG00000173548	ENST00000308527	T	0.55052	0.54	5.42	5.42	0.78866	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89689	0.3896	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:0.0:1.0:0.0	.	266	Q8WV41	SNX33_HUMAN	H	266	ENSP00000311427:R266H	ENSP00000311427:R266H	R	+	2	0	0	SNX33	73729295	73729295	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	0	0	1		16	2	2	0		0	1	222		222	222	1	2.060000	-2.321734	0	0.170000	NM_153271			19	19		946	918	0		1	1		0	0	222	0		7.224066e-01	7.218016e-01	0	4	0	123	0	19	946
SNX33	257364	broad.mit.edu	37	15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A	rs574554026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	376	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGACGTGGAAGATCGCGTGGA	0.592													G|||	13	0.00259585	0.0	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0133					ENST00000308527.5	0.520000	0.140000	4.100000e-01	2.100000e-01	0.300000	0.317392	0.300000	0.290000																										0				19						c.(1126-1128)Gat>Aat		sorting nexin 33							73.0	67.0	69.0					15																	75942569		2197	4294	6491	SO:0001583	missense	257364	248	121346	52				g.chr15:75942569G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1126G>A	chr15.hg19:g.75942569G>A	ENSP00000311427:p.Asp376Asn	0					IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	p.D376N	NM_153271.1	NP_695003.1	0	1	1	1.986442	Q8WV41	SNX33_HUMAN		1	2323	+			B1NM17	Missense_Mutation	SNP	ENST00000308527.5	1	1	hg19	c.1126G>A	CCDS10283.1	0	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766693	0.49574	.	.	ENSG00000173548	ENST00000308527	T	0.42131	0.98	5.48	5.48	0.80851	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.052515	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999998	B;B	0.24043	0.096;0.096	B;B	0.30401	0.115;0.115	T	0.10847	-1.0612	10	0.40728	T	0.16	-20.2346	18.3366	0.90290	0.0:0.0:1.0:0.0	.	376;376	B1NM17;Q8WV41	.;SNX33_HUMAN	N	376	ENSP00000311427:D376N	ENSP00000311427:D376N	D	+	1	0	0	SNX33	73729624	73729624	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.867000	0.99620	2.586000	0.87340	0.561000	0.74099	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	0	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-3.775501	1	0.170000	NM_153271			9	9		353	348	0		1	1		0	0	69	0		9.939900e-01	8.433345e-01	0	3	0	131	0	9	353
SNX33	257364	broad.mit.edu	37	15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	377	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592																																						ENST00000308527.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1129-1131)Cgc>Tgc		sorting nexin 33							73.0	67.0	69.0					15																	75942572		2197	4294	6491	SO:0001583	missense	257364	0	0					g.chr15:75942572C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1129C>T	chr15.hg19:g.75942572C>T	ENSP00000311427:p.Arg377Cys	0					IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	p.R377C	NM_153271.1	NP_695003.1	0	1	1	1.986442	Q8WV41	SNX33_HUMAN		1	2326	+			B1NM17	Missense_Mutation	SNP	ENST00000308527.5	1	1	hg19	c.1129C>T	CCDS10283.1	1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813202	0.32053	.	.	ENSG00000173548	ENST00000308527	T	0.50548	0.74	5.48	5.48	0.80851	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.65899	-0.6056	10	0.87932	D	0	-10.5611	13.3236	0.60447	0.1579:0.8421:0.0:0.0	.	377;377	B1NM17;Q8WV41	.;SNX33_HUMAN	C	377	ENSP00000311427:R377C	ENSP00000311427:R377C	R	+	1	0	0	SNX33	73729627	73729627	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.002000	0.49496	2.586000	0.87340	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_153271			74	72		280	277	1		1	1		0	0	63	0		1	1	0	29	0	110	0	74	280
SNX33	257364	broad.mit.edu	37	15	75949349	75949349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	506	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647																																						ENST00000308527.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1516-1518)ggC>ggT		sorting nexin 33							56.0	52.0	53.0					15																	75949349		2197	4294	6491	SO:0001819	synonymous_variant	257364	0	0					g.chr15:75949349C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1518C>T	chr15.hg19:g.75949349C>T		0						p.G506G	NM_153271.1	NP_695003.1	0	1	1	1.986442	Q8WV41	SNX33_HUMAN		2	2715	+			B1NM17	Silent	SNP	ENST00000308527.5	1	1	hg19	c.1518C>T	CCDS10283.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_153271			44	44		203	199	1		1	1		0	0	39	0		1	9.999989e-01	0	27	0	73	0	44	203
CSPG4	1464	broad.mit.edu	37	15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1941	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662																																						ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(5821-5823)Gcc>Acc		chondroitin sulfate proteoglycan 4							41.0	47.0	45.0					15																	75969039		2197	4293	6490	SO:0001583	missense	1464	0	0					g.chr15:75969039C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5821G>A	chr15.hg19:g.75969039C>T	ENSP00000312506:p.Ala1941Thr	0					CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	p.A1941T	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		10	5913	-			D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	1	1	hg19	c.5821G>A	CCDS10284.1	1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.434673	0.01108	.	.	ENSG00000173546	ENST00000308508	T	0.15372	2.43	5.04	-5.44	0.02624	5.04	-5.44	0.02624	.	0.966971	0.08531	N	0.932103	T	0.06371	0.0164	N	0.12961	0.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39800	-0.9596	10	0.18710	T	0.47	.	1.8144	0.03097	0.1936:0.3577:0.0923:0.3563	.	1941	Q6UVK1	CSPG4_HUMAN	T	1941	ENSP00000312506:A1941T	ENSP00000312506:A1941T	A	-	1	0	0	CSPG4	73756094	73756094	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-1.125000	0.03257	-0.697000	0.05092	-0.228000	0.12330	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.293019	1	0.170000	NM_001897			76	76		348	344	0		1	0		0	0	64	0		1	9.510477e-01	0	1	0	24	0	76	348
CSPG4	1464	broad.mit.edu	37	15	75975290	75975290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692																																						ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4540-4542)gaG>gaA		chondroitin sulfate proteoglycan 4							19.0	20.0	20.0					15																	75975290		2190	4289	6479	SO:0001819	synonymous_variant	1464	0	0					g.chr15:75975290C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4542G>A	chr15.hg19:g.75975290C>T		0						p.E1514E	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		6	4634	-			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	1	1	hg19	c.4542G>A	CCDS10284.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_001897			45	44		147	145	1		1	0		0	0	25	0		1	7.187043e-01	0	0	0	10	0	45	147
CSPG4	1464	broad.mit.edu	37	15	75980460	75980460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572																																						ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2944-2946)gaT>gaC		chondroitin sulfate proteoglycan 4							84.0	88.0	87.0					15																	75980460		2197	4293	6490	SO:0001819	synonymous_variant	1464	0	0					g.chr15:75980460A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2946T>C	chr15.hg19:g.75980460A>G		0						p.D982D	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	3038	-			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	1	1	hg19	c.2946T>C	CCDS10284.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	0		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_001897			133	131		546	529	0		1	0		0	0	153	0		1	8.905462e-01	0	0	0	18	0	133	546
CSPG4	1464	broad.mit.edu	37	15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602																																						ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2656-2658)Ctc>Ttc		chondroitin sulfate proteoglycan 4							60.0	59.0	59.0					15																	75980750		2197	4294	6491	SO:0001583	missense	1464	0	0					g.chr15:75980750G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2656C>T	chr15.hg19:g.75980750G>A	ENSP00000312506:p.Leu886Phe	0						p.L886F	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	2748	-			D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	1	1	hg19	c.2656C>T	CCDS10284.1	1	.	.	.	.	.	.	.	.	.	.	.	3.860	-0.030019	0.07543	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.02	3.12	0.35913	5.02	3.12	0.35913	.	0.228408	0.29225	N	0.012762	T	0.23014	0.0556	L	0.56769	1.78	0.22851	N	0.998654	P	0.42409	0.779	B	0.42462	0.388	T	0.07443	-1.0772	10	0.56958	D	0.05	.	9.0331	0.36271	0.0835:0.4142:0.5023:0.0	.	886	Q6UVK1	CSPG4_HUMAN	F	886	ENSP00000312506:L886F	ENSP00000312506:L886F	L	-	1	0	0	CSPG4	73767805	73767805	0.109000	0.22037	0.492000	0.27490	0.155000	0.21991	0.496000	0.22499	0.499000	0.27970	-0.145000	0.13849	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_001897			52	50		248	238	1		1	0		0	0	56	0		1	9.418436e-01	0	1	0	24	0	52	248
CSPG4	1464	broad.mit.edu	37	15	75981045	75981045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981045C>T	ENST00000308508.5	-	3	2453	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	787	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCCAGCCGCAGCATCCACA	0.642																																						ENST00000308508.5	0.600000	0.150000	4.700000e-01	2.300000e-01	0.330000	0.357258	0.330000	0.310000																										0				48						c.(2359-2361)ctG>ctA		chondroitin sulfate proteoglycan 4							36.0	35.0	35.0					15																	75981045		2194	4287	6481	SO:0001819	synonymous_variant	1464	0	0					g.chr15:75981045C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2361G>A	chr15.hg19:g.75981045C>T		0						p.L787L	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	2453	-			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	0	1	hg19	c.2361G>A	CCDS10284.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	0	1		2	2	2	0		0	0	50		50	47	1	2.060000	-9.273811	1	0.170000	NM_001897			8	8		280	268	0		1	0		0	0	50	0		9.876798e-01	8.136446e-02	0	0	0	15	0	8	280
CSPG4	1464	broad.mit.edu	37	15	75981567	75981567	+	Silent	SNP	C	C	T	rs567486526	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672													C|||	4	0.000798722	0.0	0.0	5008	,	,		16408	0.0		0.0	False		,,,				2504	0.0041					ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				48						c.(1837-1839)gcG>gcA		chondroitin sulfate proteoglycan 4							13.0	16.0	15.0					15																	75981567		2173	4258	6431	SO:0001819	synonymous_variant	1464	33	120894	41				g.chr15:75981567C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1839G>A	chr15.hg19:g.75981567C>T		0						p.A613A	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	1931	-			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	1	1	hg19	c.1839G>A	CCDS10284.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_001897			34	33		173	167	1		1	0		0	0	36	0		1	5.141410e-01	0	0	0	10	0	34	173
CSPG4	1464	broad.mit.edu	37	15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662																																						ENST00000308508.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				48						c.(1414-1416)Gtg>Atg		chondroitin sulfate proteoglycan 4							64.0	60.0	61.0					15																	75981992		2196	4290	6486	SO:0001583	missense	1464	7	121364	39				g.chr15:75981992C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1414G>A	chr15.hg19:g.75981992C>T	ENSP00000312506:p.Val472Met	0						p.V472M	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	1506	-			D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	1	1	hg19	c.1414G>A	CCDS10284.1	1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889935	0.33348	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.12	4.14	0.48551	5.12	4.14	0.48551	.	0.246882	0.28062	N	0.016759	T	0.35653	0.0939	L	0.56769	1.78	0.18873	N	0.999981	D	0.65815	0.995	P	0.54965	0.765	T	0.15321	-1.0441	10	0.72032	D	0.01	.	8.3235	0.32142	0.0:0.7519:0.1604:0.0877	.	472	Q6UVK1	CSPG4_HUMAN	M	472	ENSP00000312506:V472M	ENSP00000312506:V472M	V	-	1	0	0	CSPG4	73769047	73769047	0.989000	0.36119	0.993000	0.49108	0.113000	0.19764	2.504000	0.45416	2.375000	0.81037	0.555000	0.69702	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1		2	2	2	0		0	0	158		158	161	1	2.060000	-20.000000	1	0.170000	NM_001897			96	95		685	666	1		1	0		0	0	158	0		1	4.474336e-01	0	0	0	12	0	96	685
CSPG4	1464	broad.mit.edu	37	15	75982969	75982969	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	ENST00000308508.5	-	3	529	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	146	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCAACAAAGAGCCCATAGGG	0.647																																						ENST00000308508.5	0.710000	0.240000	5.800000e-01	3.300000e-01	0.440000	0.462730	0.440000	0.430000																										0				48						c.(436-438)cTc>cCc		chondroitin sulfate proteoglycan 4							20.0	24.0	22.0					15																	75982969		2176	4245	6421	SO:0001583	missense	1464	0	0					g.chr15:75982969A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.437T>C	chr15.hg19:g.75982969A>G	ENSP00000312506:p.Leu146Pro	0						p.L146P	NM_001897.4	NP_001888.2	0	1	1	1.986442	Q6UVK1	CSPG4_HUMAN		3	529	-			D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	0	1	hg19	c.437T>C	CCDS10284.1	0	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684992	0.68157	.	.	ENSG00000173546	ENST00000308508	D	0.83837	-1.77	4.97	4.97	0.65823	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.640591	0.14356	N	0.324763	D	0.90045	0.6891	M	0.82823	2.61	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	D	0.90553	0.4510	10	0.87932	D	0	.	13.4697	0.61276	1.0:0.0:0.0:0.0	.	146	Q6UVK1	CSPG4_HUMAN	P	146	ENSP00000312506:L146P	ENSP00000312506:L146P	L	-	2	0	0	CSPG4	73770024	73770024	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	8.904000	0.92590	1.873000	0.54277	0.454000	0.30748	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	0	1		2	2	2	0		0	0	62		62	63	1	2.060000	-13.373880	1	0.170000	NM_001897			12	11		310	303	0		1	0		0	0	62	0		9.990215e-01	7.232160e-02	0	0	0	11	0	12	310
C15orf27	123591	broad.mit.edu	37	15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	260					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736																																						ENST00000388942.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999784	0.990000	1.000000																										0				13						c.(778-780)Cgg>Tgg		chromosome 15 open reading frame 27							8.0	10.0	9.0					15																	76484318		2037	4010	6047	SO:0001583	missense	123591	0	0					g.chr15:76484318C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.778C>T	chr15.hg19:g.76484318C>T	ENSP00000373594:p.Arg260Trp	0						p.R260W	NM_152335.2	NP_689548.2	0	1	1	1.986442	Q2M3C6	CO027_HUMAN		9	1054	+			Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	1	1	hg19	c.778C>T	CCDS10289.2	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780264	0.49891	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.58	3.58	0.41010	4.58	3.58	0.41010	.	0.114885	0.56097	D	0.000038	T	0.53546	0.1803	M	0.66939	2.045	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.917	T	0.56257	-0.8009	10	0.72032	D	0.01	-15.5283	9.394	0.38390	0.3178:0.6821:0.0:0.0	.	224;260	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	260	ENSP00000373594:R260W	ENSP00000373594:R260W	R	+	1	2	2	C15orf27	74271373	74271373	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.662000	0.46766	2.097000	0.63578	0.491000	0.48974	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_152335			24	24		130	128	0		1	0		0	0	36	0		9.999998e-01	0	0	0	0	1	0	24	130
ISL2	64843	broad.mit.edu	37	15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	81	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(241-243)tAt>tGt		ISL LIM homeobox 2							45.0	34.0	38.0					15																	76630302		2197	4294	6491	SO:0001583	missense	64843	0	0					g.chr15:76630302A>G	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.242A>G	chr15.hg19:g.76630302A>G	ENSP00000290759:p.Tyr81Cys	0					RP11-685G9.2_ENST00000559539.1_RNA	p.Y81C	NM_145805.1	NP_665804.1	0	1	1	1.986442	Q96A47	ISL2_HUMAN		2	402	+			B3KM37	Missense_Mutation	SNP	ENST00000290759.4	1	1	hg19	c.242A>G	CCDS10290.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140328	0.77775	.	.	ENSG00000159556	ENST00000290759	D	0.93763	-3.28	4.58	4.58	0.56647	4.58	4.58	0.56647	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98633	1.0672	10	0.87932	D	0	.	12.8378	0.57784	1.0:0.0:0.0:0.0	.	81	Q96A47	ISL2_HUMAN	C	81	ENSP00000290759:Y81C	ENSP00000290759:Y81C	Y	+	2	0	0	ISL2	74417357	74417357	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.190000	0.77755	1.712000	0.51347	0.248000	0.18094	TAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				51	51		241	240	0		1	0		0	0	38	0		1	2.171216e-01	0	0	0	5	0	51	241
SCAPER	49855	broad.mit.edu	37	15	76696915	76696915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000563290.1	-	27	3512	c.3417C>T	c.(3415-3417)gcC>gcT	p.A1139A	SCAPER_ENST00000324767.7_Silent_p.A1139A|SCAPER_ENST00000538941.2_Silent_p.A893A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1139			A -> T (in dbSNP:rs3743176).			endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						AGAGTCCTGCGGCATGCTGCA	0.478																																						ENST00000563290.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3415-3417)gcC>gcT		S-phase cyclin A-associated protein in the ER							201.0	184.0	189.0					15																	76696915		2054	4199	6253	SO:0001819	synonymous_variant	49855	0	0					g.chr15:76696915G>A	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.3417C>T	chr15.hg19:g.76696915G>A		0					SCAPER_ENST00000538941.2_Silent_p.A893A|SCAPER_ENST00000324767.7_Silent_p.A1139A	p.A1139A			0	1	1	1.986442	Q9BY12	SCAPE_HUMAN		27	3512	-			F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	1	1	hg19	c.3417C>T	CCDS53962.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-2.717694	1	0.170000	NM_020843			103	100		556	545	1		1	1		0	0	152	0		1	9.676861e-01	0	6	0	26	0	103	556
SCAPER	49855	broad.mit.edu	37	15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000563290.1	-	10	1194	c.1099A>C	c.(1099-1101)Act>Cct	p.T367P	SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P|SCAPER_ENST00000538941.2_Missense_Mutation_p.T121P			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	367						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						ATTTCAGAAGTTCGAACATAA	0.363																																						ENST00000563290.1	1.000000	0.790000	1	9.300000e-01	0.990000	0.975166	0.990000	1.000000																										0				39						c.(1099-1101)Act>Cct		S-phase cyclin A-associated protein in the ER							129.0	123.0	125.0					15																	77064232		1865	4114	5979	SO:0001583	missense	49855	0	0					g.chr15:77064232T>G	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.1099A>C	chr15.hg19:g.77064232T>G	ENSP00000454973:p.Thr367Pro	0					SCAPER_ENST00000538941.2_Missense_Mutation_p.T121P|SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P	p.T367P			0	1	1	1.986442	Q9BY12	SCAPE_HUMAN		10	1194	-			F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	1	1	hg19	c.1099A>C	CCDS53962.1	1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503271	0.12822	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26660	1.83;1.72	5.11	1.21	0.21127	5.11	1.21	0.21127	.	0.674263	0.15665	N	0.250695	T	0.20861	0.0502	M	0.65975	2.015	0.19945	N	0.999945	B;B;B	0.31040	0.305;0.002;0.001	B;B;B	0.31614	0.133;0.001;0.001	T	0.20472	-1.0274	10	0.33141	T	0.24	.	0.9449	0.01363	0.1512:0.2691:0.1568:0.4229	.	367;382;121	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	P	367;121;383	ENSP00000326924:T367P;ENSP00000442190:T121P	ENSP00000303560:T383P	T	-	1	0	0	SCAPER	74851287	74851287	0.008000	0.16893	0.154000	0.22540	0.131000	0.20780	0.008000	0.13197	0.351000	0.24027	0.477000	0.44152	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_020843			39	38		378	374	0		1	1		0	0	85	0		1	6.025885e-01	0	5	0	15	0	39	378
PSTPIP1	9051	broad.mit.edu	37	15	77325208	77325208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	ENST00000558012.1	+	12	1333	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Intron	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	282					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCAGCTCCGGTGCCCTACCA	0.647																																						ENST00000558012.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				9						c.(844-846)Gtg>Atg		proline-serine-threonine phosphatase interacting protein 1							22.0	21.0	22.0					15																	77325208		1893	4091	5984	SO:0001583	missense	9051	0	0					g.chr15:77325208G>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.844G>A	chr15.hg19:g.77325208G>A	ENSP00000452746:p.Val282Met	0					PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M	p.V282M	NM_003978.3	NP_003969.2	0	1	1	1.986442	O43586	PPIP1_HUMAN		12	1333	+			B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	0	1	hg19	c.844G>A	CCDS45312.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503751	0.44558	.	.	ENSG00000140368	ENST00000379595	T	0.46819	0.86	4.34	3.41	0.39046	4.34	3.41	0.39046	.	0.504438	0.20542	N	0.090290	T	0.30135	0.0755	L	0.36672	1.1	0.80722	D	1	P	0.44986	0.847	B	0.35931	0.214	T	0.04650	-1.0936	10	0.33940	T	0.23	-25.3733	7.2166	0.25963	0.1182:0.0:0.8818:0.0	.	282	O43586	PPIP1_HUMAN	M	282	ENSP00000368914:V282M	ENSP00000368914:V282M	V	+	1	0	0	PSTPIP1	75112263	75112263	0.883000	0.30277	0.997000	0.53966	0.601000	0.36947	1.653000	0.37323	2.357000	0.79964	0.462000	0.41574	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_003978			14	13		26	25	1		1	0		0	0	12	0		9.998835e-01	9.912552e-01	0	0	0	19	0	14	26
HMG20A	10363	broad.mit.edu	37	15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	213					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTAAAGGAACGGTCTGTTTT	0.333																																						ENST00000381714.3	0.890000	0.220000	6.900000e-01	3.300000e-01	0.490000	0.519001	0.490000	0.460000																										0				18						c.(637-639)Cgg>Tgg		high mobility group 20A							82.0	82.0	82.0					15																	77769918		2196	4294	6490	SO:0001583	missense	10363	0	0					g.chr15:77769918C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.637C>T	chr15.hg19:g.77769918C>T	ENSP00000371133:p.Arg213Trp	0					HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	p.R213W	NM_018200.2	NP_060670.1	0	1	1	1.986442	Q9NP66	HM20A_HUMAN		8	1065	+			A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	1	1	hg19	c.637C>T	CCDS10295.1	0	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446283	0.63178	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69435	-0.4;-0.4	6.04	3.99	0.46301	6.04	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	P	0.60286	0.872	T	0.73263	-0.4038	10	0.37606	T	0.19	-15.2639	12.498	0.55940	0.561:0.439:0.0:0.0	.	213	Q9NP66	HM20A_HUMAN	W	213	ENSP00000336856:R213W;ENSP00000371133:R213W	ENSP00000336856:R213W	R	+	1	2	2	HMG20A	75556973	75556973	1.000000	0.71417	0.908000	0.35775	0.993000	0.82548	3.834000	0.55798	1.525000	0.49052	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-9.394309	1	0.170000	NM_018200			7	7		166	163	0		1	1		0	0	30	0		9.800607e-01	7.904208e-01	0	2	0	68	0	7	166
LINGO1	84894	broad.mit.edu	37	15	77907931	77907931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	106					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)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGCGCTCACGATGTTCTCGT	0.627																																						ENST00000355300.6	1.000000	0.700000	1	9.500000e-01	0.990000	0.971316	0.990000	1.000000																										0				31						c.(316-318)atC>atT		leucine rich repeat and Ig domain containing 1							35.0	39.0	38.0					15																	77907931		2060	4201	6261	SO:0001819	synonymous_variant	84894	5	120968	35				g.chr15:77907931G>A	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.318C>T	chr15.hg19:g.77907931G>A		0					LINGO1_ENST00000561030.1_Silent_p.I100I	p.I106I	NM_032808.5	NP_116197.4	0	1	1	1.986442	Q96FE5	LIGO1_HUMAN		2	492	-			D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	0	1	hg19	c.318C>T	CCDS45313.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-7.636344	1	0.170000	NM_032808			11	11		88	84	1		1	0		0	0	11	0		9.983003e-01	3.785013e-01	0	0	0	11	0	11	88
TBC1D2B	23102	broad.mit.edu	37	15	78290595	78290595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78290595G>A	ENST00000300584.3	-	13	2798	c.2799C>T	c.(2797-2799)acC>acT	p.T933T	TBC1D2B_ENST00000409931.3_3'UTR|TBC1D2B_ENST00000492078.1_5'UTR|RP11-114H24.6_ENST00000562716.1_RNA	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	933							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCCAGCTCGGTCAGCTCCA	0.612																																						ENST00000300584.3	1.000000	0.310000	1	5.400000e-01	0.870000	0.807224	0.870000	1.000000																										0				26						c.(2797-2799)acC>acT		TBC1 domain family, member 2B							35.0	29.0	31.0					15																	78290595		2196	4289	6485	SO:0001819	synonymous_variant	23102	9	121004	34				g.chr15:78290595G>A	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.2799C>T	chr15.hg19:g.78290595G>A		0					TBC1D2B_ENST00000409931.3_3'UTR|RP11-114H24.6_ENST00000562716.1_RNA|TBC1D2B_ENST00000492078.1_5'UTR	p.T933T	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	0	1	1	1.986442	Q9UPU7	TBD2B_HUMAN		13	2798	-			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	0	1	hg19	c.2799C>T	CCDS45314.1	1	.	.	.	.	.	.	.	.	.	.	g	0.387	-0.925472	0.02377	.	.	ENSG00000167202	ENST00000418039	.	.	.	4.48	-8.97	0.00758	4.48	-8.97	0.00758	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	.	1.3117	0.02099	0.1662:0.183:0.2526:0.3982	.	.	.	.	L	815	.	.	P	-	2	0	0	TBC1D2B	76077650	76077650	0.000000	0.05858	0.761000	0.31378	0.066000	0.16364	-5.413000	0.00124	-1.951000	0.01029	-1.544000	0.00907	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-8.653572	1	0.170000	NM_015079			4	4		51	49	0		1	1		0	0	11	0		8.839921e-01	9.907494e-01	0	10	0	123	0	4	51
TBC1D2B	23102	broad.mit.edu	37	15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000300584.3	-	9	2047	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.F683C	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	683	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557																																						ENST00000300584.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				26						c.(2047-2049)tTc>tGc		TBC1 domain family, member 2B							125.0	97.0	107.0					15																	78305387		2196	4293	6489	SO:0001583	missense	23102	0	0					g.chr15:78305387A>C	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.2048T>G	chr15.hg19:g.78305387A>C	ENSP00000300584:p.Phe683Cys	0					TBC1D2B_ENST00000409931.3_Missense_Mutation_p.F683C	p.F683C	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	0	1	1	1.986442	Q9UPU7	TBD2B_HUMAN		9	2047	-			A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	1	1	hg19	c.2048T>G	CCDS45314.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089766|3.089766	0.55968|0.55968	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11495|.	2.77;2.77|.	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.207578|.	0.51477|.	D|.	0.000086|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.41492|0.41492	1.28|1.28	0.48511|0.48511	D|D	0.999667|0.999667	D;P;D|.	0.63880|.	0.992;0.88;0.993|.	P;P;P|.	0.60173|.	0.794;0.694;0.87|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.56958|.	D|.	0.05|.	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	683;135;683|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	C|A	683|565	ENSP00000387165:F683C;ENSP00000300584:F683C|.	ENSP00000300584:F683C|.	F|S	-|-	2|1	0|0	0|0	TBC1D2B|TBC1D2B	76092442|76092442	76092442|76092442	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.296000|0.296000	0.27459|0.27459	5.797000|5.797000	0.69087|0.69087	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTC|TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_015079			29	28		154	152	1		1	1		0	0	36	0		1	1	0	6	0	158	0	29	154
TBC1D2B	23102	broad.mit.edu	37	15	78316861	78316861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	ENST00000300584.3	-	6	1106	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_ENST00000409931.3_Silent_p.Q369Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	369							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGTCTGCTGGAGCAGTC	0.517																																						ENST00000300584.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1105-1107)caG>caA		TBC1 domain family, member 2B							46.0	50.0	48.0					15																	78316861		2196	4293	6489	SO:0001819	synonymous_variant	23102	0	0					g.chr15:78316861C>T	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.1107G>A	chr15.hg19:g.78316861C>T		0					TBC1D2B_ENST00000409931.3_Silent_p.Q369Q	p.Q369Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	0	1	1	1.986442	Q9UPU7	TBD2B_HUMAN		6	1106	-			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	0	1	hg19	c.1107G>A	CCDS45314.1	1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.191961	0.21954	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.55	1.5	0.22942	5.55	1.5	0.22942	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	.	9.9733	0.41768	0.0:0.7174:0.0:0.2826	.	.	.	.	N	251	.	.	S	-	2	0	0	TBC1D2B	76103916	76103916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.866000	0.39489	0.291000	0.22468	0.491000	0.48974	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_015079			49	49		203	199	0		1	1		0	0	58	0		1	9.999990e-01	0	6	0	84	0	49	203
TBC1D2B	23102	broad.mit.edu	37	15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000300584.3	-	4	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S230L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	230							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353																																						ENST00000300584.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999620	0.990000	1.000000																										0				26						c.(688-690)tCg>tTg		TBC1 domain family, member 2B							49.0	44.0	46.0					15																	78322507		2196	4293	6489	SO:0001583	missense	23102	0	0					g.chr15:78322507G>A	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.689C>T	chr15.hg19:g.78322507G>A	ENSP00000300584:p.Ser230Leu	0					TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S230L	p.S230L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	0	1	1	1.986442	Q9UPU7	TBD2B_HUMAN		4	688	-			A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	1	1	hg19	c.689C>T	CCDS45314.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453516|3.453516	0.63290|0.63290	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.10763	.|2.84;2.84	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.135418	.|0.51477	.|D	.|0.000098	.|T	.|0.33904	.|0.0879	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.69307	.|0.963;0.909	.|T	.|0.09952	.|-1.0651	.|10	.|0.87932	.|D	.|0	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;230	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	X|L	112|230;230;118	.|ENSP00000387165:S230L;ENSP00000300584:S230L	.|ENSP00000300584:S230L	R|S	-|-	1|2	2|0	2|0	TBC1D2B|TBC1D2B	76109562|76109562	76109562|76109562	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.583000|0.583000	0.36354|0.36354	5.682000|5.682000	0.68182|0.68182	2.350000|2.350000	0.79820|0.79820	0.467000|0.467000	0.42956|0.42956	CGA|TCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.449949	1	0.170000	NM_015079			18	18		87	86	1		1	1		0	0	28	0		9.999892e-01	9.999994e-01	0	5	0	133	0	18	87
CIB2	10518	broad.mit.edu	37	15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000557846.1_Missense_Mutation_p.G113D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	162	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617																																						ENST00000258930.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(484-486)gGc>gAc		calcium and integrin binding family member 2							182.0	149.0	160.0					15																	78398138		2196	4293	6489	SO:0001583	missense	10518	0	0					g.chr15:78398138C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.485G>A	chr15.hg19:g.78398138C>T	ENSP00000258930:p.Gly162Asp	0					CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000557846.1_Missense_Mutation_p.G113D	p.G162D	NM_006383.2	NP_006374.1	0	1	1	1.986442	O75838	CIB2_HUMAN		5	813	-			B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	1	1	hg19	c.485G>A	CCDS10296.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025649	0.75390	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	D;D	0.83837	-1.77;-1.77	5.59	4.67	0.58626	5.59	4.67	0.58626	EF-hand-like domain (1);	0.239373	0.43110	D	0.000604	D	0.91650	0.7361	M	0.91818	3.245	0.54753	D	0.999986	D;B	0.69078	0.997;0.439	D;B	0.63957	0.92;0.328	D	0.92658	0.6139	10	0.54805	T	0.06	-22.6145	13.2955	0.60294	0.0:0.9243:0.0:0.0757	.	162;162	B4DDF0;O75838	.;CIB2_HUMAN	D	162;119	ENSP00000258930:G162D;ENSP00000442459:G119D	ENSP00000258930:G162D	G	-	2	0	0	CIB2	76185193	76185193	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	3.234000	0.51320	1.364000	0.46038	0.591000	0.81541	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-4.065743	1	0.170000	NM_006383			73	70		260	254	1		1	1		0	0	70	0		1	9.999990e-01	0	24	0	51	0	73	260
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A	rs376577933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567																																						ENST00000258930.3	1.000000	0.700000	1	8.400000e-01	0.990000	0.939560	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C149C(1)	large_intestine(1)	11						c.(445-447)tgC>tgT		calcium and integrin binding family member 2		G		0,4392		0,0,2196	219.0	172.0	188.0		447	-8.9	0.5	15		188	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CIB2	NM_006383.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		149/188	78398176	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	10518	8	121412	44				g.chr15:78398176G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.447C>T	chr15.hg19:g.78398176G>A		0					CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C	p.C149C	NM_006383.2	NP_006374.1	0	1	1	1.986442	O75838	CIB2_HUMAN		5	775	-			B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	1	1	hg19	c.447C>T	CCDS10296.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-3.017764	1	0.170000	NM_006383			35	34		377	367	1		1	1		0	0	63	0		1	9.931338e-01	0	16	0	69	0	35	377
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T	rs541843030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000557846.1_Intron	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.001					ENST00000258930.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(94-96)tcG>tcA		calcium and integrin binding family member 2							82.0	79.0	80.0					15																	78403609		2196	4293	6489	SO:0001819	synonymous_variant	10518	3	121412	36				g.chr15:78403609C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	chr15.hg19:g.78403609C>T		0					CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000557846.1_Intron	p.S32S	NM_006383.2	NP_006374.1	0	1	1	1.986442	O75838	CIB2_HUMAN		3	424	-			B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	1	1	hg19	c.96G>A	CCDS10296.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_006383			57	55		276	271	0		1	1		0	0	59	0		1	8.922276e-01	0	5	0	16	0	57	276
IDH3A	3419	broad.mit.edu	37	15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000561366.1_5'Flank	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					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)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCCTTACACCGATGTAAATAT	0.423																																						ENST00000299518.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(415-417)Gat>Aat		isocitrate dehydrogenase 3 (NAD+) alpha							192.0	183.0	186.0					15																	78454048		2196	4293	6489	SO:0001583	missense	3419	1	121412	37				g.chr15:78454048G>A		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.415G>A	chr15.hg19:g.78454048G>A	ENSP00000299518:p.Asp139Asn	0					IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron	p.D139N	NM_005530.2	NP_005521.1	0	1	1	1.986442	P50213	IDH3A_HUMAN		5	498	+			D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	1	1	hg19	c.415G>A	CCDS10297.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828324	0.32329	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.54866	0.55;0.55	6.02	6.02	0.97574	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.11927	0.2	0.80722	D	1	B;B	0.18013	0.025;0.008	B;B	0.23574	0.047;0.014	T	0.28235	-1.0050	10	0.02654	T	1	-31.065	19.5254	0.95203	0.0:0.0:1.0:0.0	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	N	139;30	ENSP00000299518:D139N;ENSP00000387506:D30N	ENSP00000299518:D139N	D	+	1	0	0	IDH3A	76241103	76241103	1.000000	0.71417	0.730000	0.30809	0.862000	0.49288	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	1	0	1		2	2	2	0		0	0	177		177	176	1	2.060000	-3.382720	1	0.170000	NM_005530			165	163		673	663	1		1	1		0	0	177	0		1	1	0	40	0	126	0	165	673
IDH3A	3419	broad.mit.edu	37	15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000561366.1_Silent_p.I37I	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	304					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)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CATGGCGAATCCCACAGCCCT	0.507																																						ENST00000299518.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(910-912)Ccc>Acc		isocitrate dehydrogenase 3 (NAD+) alpha							174.0	149.0	158.0					15																	78458537		2196	4293	6489	SO:0001583	missense	3419	0	0					g.chr15:78458537C>A		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.910C>A	chr15.hg19:g.78458537C>A	ENSP00000299518:p.Pro304Thr	0					IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T	p.P304T	NM_005530.2	NP_005521.1	0	1	1	1.986442	P50213	IDH3A_HUMAN		10	993	+			D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	1	1	hg19	c.910C>A	CCDS10297.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.217635	0.95104	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	D;D	0.81996	-1.56;-1.56	5.7	5.7	0.88788	5.7	5.7	0.88788	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.99225	4.475	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	0.97303	0.9932	10	0.87932	D	0	-16.5781	18.8361	0.92164	0.0:1.0:0.0:0.0	.	269;254;304	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	T	304;195	ENSP00000299518:P304T;ENSP00000387506:P195T	ENSP00000299518:P304T	P	+	1	0	0	IDH3A	76245592	76245592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.741000	0.84997	2.681000	0.91329	0.655000	0.94253	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	0	0	1		19	8	2	1		1	1	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_005530			122	121		513	503	1		1	1		1	0	107	0		1	1	0	50	0	143	0	122	513
ACSBG1	23205	broad.mit.edu	37	15	78466006	78466006	+	Missense_Mutation	SNP	G	G	A	rs11072735	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78466006G>A	ENST00000258873.4	-	13	2223	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A431V|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A431V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	673			A -> V (in dbSNP:rs11072735). {ECO:0000269|PubMed:14702039}.		long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGGCCGGGCCGCCGCGTTCAT	0.567													G|||	306	0.0611022	0.1354	0.0159	5008	,	,		18635	0.0685		0.0189	False		,,,				2504	0.0286					ENST00000258873.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2017-2019)gCg>gTg		acyl-CoA synthetase bubblegum family member 1		G	VAL/ALA,VAL/ALA	471,3921	223.3+/-239.8	25,421,1750	91.0	75.0	80.0		2006,2018	4.4	0.0	15	dbSNP_120	80	129,8457	67.0+/-129.4	1,127,4165	yes	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	64,64	26,548,5915	AA,AG,GG		1.5024,10.724,4.6232	benign,benign	669/721,673/725	78466006	600,12378	2196	4293	6489	SO:0001583	missense	23205	3694	121412	67				g.chr15:78466006G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2018C>T	chr15.hg19:g.78466006G>A	ENSP00000258873:p.Ala673Val	0					ACSBG1_ENST00000541759.1_Missense_Mutation_p.A431V|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A431V	p.A673V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	0	1	1	1.986442	Q96GR2	ACBG1_HUMAN		13	2223	-			B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	1	0	hg19	c.2018C>T	CCDS10298.1	1	119	0.05448717948717949	58	0.11788617886178862	9	0.024861878453038673	38	0.06643356643356643	14	0.018469656992084433	G	4.942	0.174970	0.09391	0.10724	0.015024	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.03831	3.79;3.79	5.35	4.43	0.53597	5.35	4.43	0.53597	.	0.224065	0.37437	N	0.002091	T	0.00039	0.0001	N	0.01482	-0.84	0.09310	N	1	B;B	0.19706	0.038;0.011	B;B	0.12156	0.007;0.005	T	0.48210	-0.9055	10	0.02654	T	1	-9.3878	9.6131	0.39674	0.1571:0.0:0.8429:0.0	rs11072735;rs11072735	669;673	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	673;431	ENSP00000258873:A673V;ENSP00000439955:A431V	ENSP00000258873:A673V	A	-	2	0	0	ACSBG1	76253061	76253061	0.997000	0.39634	0.019000	0.16419	0.090000	0.18270	5.564000	0.67359	1.491000	0.48482	0.591000	0.81541	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-1.293869	0	0.170000	NM_015162			76	75		262	256	1		1			0	0	62	0		1	0	0	0	0	0	0	76	262
ACSBG1	23205	broad.mit.edu	37	15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	258					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617																																						ENST00000258873.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(772-774)gAa>gGa		acyl-CoA synthetase bubblegum family member 1							80.0	71.0	74.0					15																	78474929		2196	4293	6489	SO:0001583	missense	23205	0	0					g.chr15:78474929T>C	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.773A>G	chr15.hg19:g.78474929T>C	ENSP00000258873:p.Glu258Gly	0					ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	p.E258G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	0	1	1	1.986442	Q96GR2	ACBG1_HUMAN		7	978	-			B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	1	1	hg19	c.773A>G	CCDS10298.1	1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063865	0.36373	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.16	4.03	0.46877	5.16	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.557117	0.18063	N	0.152890	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.32981	-0.9886	10	0.23891	T	0.37	-1.6861	9.7706	0.40587	0.0:0.0821:0.0:0.9179	.	254;258	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	258;16	ENSP00000258873:E258G;ENSP00000439955:E16G	ENSP00000258873:E258G	E	-	2	0	0	ACSBG1	76261984	76261984	0.954000	0.32549	0.001000	0.08648	0.511000	0.34104	3.434000	0.52841	0.806000	0.34183	0.529000	0.55759	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_015162			53	52		268	266	1		1			0	0	55	0		1	0	0	0	0	0	0	53	268
ACSBG1	23205	broad.mit.edu	37	15	78475047	78475047	+	Splice_Site	SNP	C	C	T	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532																																						ENST00000258873.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(742-744)acG>acA		acyl-CoA synthetase bubblegum family member 1							128.0	121.0	123.0					15																	78475047		2196	4293	6489	SO:0001630	splice_region_variant	23205	0	0					g.chr15:78475047C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.744+1G>A	chr15.hg19:g.78475047C>T		0					ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	p.T248T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	0	1	1	1.986442	Q96GR2	ACBG1_HUMAN		6	949	-			B2RB61|O75126|Q76N27|Q9HC26	Splice_Site	SNP	ENST00000258873.4	1	0	hg19	c.744G>A	CCDS10298.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-2.123068	0	0.170000	NM_015162	Silent		129	128		666	659	1		1			0	0	156	0		1	0	0	0	0	0	0	129	666
DNAJA4	55466	broad.mit.edu	37	15	78557118	78557118	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78557118A>G	ENST00000394852.3	+	1	203	c.13A>G	c.(13-15)Acc>Gcc	p.T5A	RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000394855.3_Missense_Mutation_p.T34A	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	5	J.				negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GGTGAAGGAGACCCAGTACTA	0.697																																						ENST00000394852.3	1.000000	0.840000	1	9.900000e-01	0.990000	0.990983	0.990000	1.000000																										0				8						c.(13-15)Acc>Gcc		DnaJ (Hsp40) homolog, subfamily A, member 4							29.0	26.0	27.0					15																	78557118		2196	4293	6489	SO:0001583	missense	55466	0	0					g.chr15:78557118A>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.13A>G	chr15.hg19:g.78557118A>G	ENSP00000378321:p.Thr5Ala	0					DNAJA4_ENST00000394855.3_Missense_Mutation_p.T34A|RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000559954.1_RNA	p.T5A	NM_001130182.1	NP_001123654.1	0	1	1	1.986442	Q8WW22	DNJA4_HUMAN		1	203	+			E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	0	1	hg19	c.13A>G	CCDS45316.1	1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760177	0.49468	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.65	4.65	0.58169	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	N	0.25485	0.75	0.80722	D	1	D;D	0.71674	0.998;0.995	P;D	0.67725	0.858;0.953	T	0.74734	-0.3565	10	0.72032	D	0.01	-13.9376	9.8993	0.41338	0.8476:0.0:0.0:0.1524	.	5;34	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	A	34;34;5;5	ENSP00000378324:T34A;ENSP00000438263:T34A;ENSP00000339581:T5A;ENSP00000378321:T5A	ENSP00000339581:T5A	T	+	1	0	0	DNAJA4	76344173	76344173	1.000000	0.71417	0.825000	0.32803	0.009000	0.06853	6.644000	0.74338	1.739000	0.51704	0.455000	0.32223	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-18.547090	1	0.170000	NM_018602			10	10		59	58	0		1	1		0	0	18	0		9.974084e-01	9.824842e-01	0	22	0	23	0	10	59
DNAJA4	55466	broad.mit.edu	37	15	78566680	78566680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78566680G>A	ENST00000394852.3	+	4	750	c.560G>A	c.(559-561)cGc>cAc	p.R187H	DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000394855.3_Missense_Mutation_p.R216H	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	187					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGGGTGAGCGCATCAACCCC	0.602																																						ENST00000394852.3	0.520000	0.140000	4.100000e-01	2.100000e-01	0.300000	0.317392	0.300000	0.290000																										0				8						c.(559-561)cGc>cAc		DnaJ (Hsp40) homolog, subfamily A, member 4							73.0	63.0	66.0					15																	78566680		2196	4293	6489	SO:0001583	missense	55466	2	121412	39				g.chr15:78566680G>A	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.560G>A	chr15.hg19:g.78566680G>A	ENSP00000378321:p.Arg187His	0					DNAJA4_ENST00000394855.3_Missense_Mutation_p.R216H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H	p.R187H	NM_001130182.1	NP_001123654.1	0	1	1	1.986442	Q8WW22	DNJA4_HUMAN		4	750	+			E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	0	1	hg19	c.560G>A	CCDS45316.1	0	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912019	0.52439	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.63744	0.16;0.16;0.16;-0.06	5.63	4.71	0.59529	5.63	4.71	0.59529	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.047080	0.85682	D	0.000000	T	0.61098	0.2320	M	0.74258	2.255	0.46011	D	0.998812	B;B;B;B	0.29212	0.211;0.07;0.237;0.093	B;B;B;B	0.27608	0.052;0.052;0.081;0.03	T	0.58853	-0.7563	10	0.16420	T	0.52	-2.4379	15.7352	0.77837	0.0:0.1366:0.8634:0.0	.	102;160;187;216	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	H	216;187;187;160	ENSP00000378324:R216H;ENSP00000339581:R187H;ENSP00000378321:R187H;ENSP00000413499:R160H	ENSP00000339581:R187H	R	+	2	0	0	DNAJA4	76353735	76353735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.366000	0.46076	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	0	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-2.743370	1	0.170000	NM_018602			9	9		353	348	0		1	1		0	0	64	0		9.939900e-01	8.579385e-01	0	4	0	136	0	9	353
WDR61	80349	broad.mit.edu	37	15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|RP11-762H8.1_ENST00000560057.1_RNA			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	56					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517																																						ENST00000267973.2	1.000000	0.660000	1	8.400000e-01	0.990000	0.943652	0.990000	1.000000																										0				9						c.(166-168)Cta>Ata		WD repeat domain 61							62.0	57.0	59.0					15																	78585111		2196	4293	6489	SO:0001583	missense	80349	0	0					g.chr15:78585111G>T		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.166C>A	chr15.hg19:g.78585111G>T	ENSP00000267973:p.Leu56Ile	0					WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|RP11-762H8.1_ENST00000560057.1_RNA	p.L56I			0	1	1	1.986442	Q9GZS3	WDR61_HUMAN		5	437	-			D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	1	1	hg19	c.166C>A	CCDS10300.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036652	0.54896	.	.	ENSG00000140395	ENST00000267973	D	0.82255	-1.59	5.91	3.8	0.43715	5.91	3.8	0.43715	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	0.77811	0.4186	L	0.49640	1.575	0.80722	D	1	B;B	0.26809	0.068;0.16	B;B	0.32533	0.141;0.147	T	0.73251	-0.4042	10	0.33940	T	0.23	-4.9475	8.9529	0.35801	0.1003:0.0:0.7482:0.1514	.	56;56	B4E387;Q9GZS3	.;WDR61_HUMAN	I	56	ENSP00000267973:L56I	ENSP00000267973:L56I	L	-	1	2	2	WDR61	76372166	76372166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.389000	0.73199	1.484000	0.48361	0.655000	0.94253	CTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_025234			19	19		192	185	1		1	1		0	0	46	0		9.999900e-01	9.999998e-01	0	51	0	250	0	19	192
CRABP1	1381	broad.mit.edu	37	15	78640310	78640310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	135					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	GAATTTATGTCCGAGAGTGAA	0.498																																					Ovarian(146;578 3231 38536)	ENST00000299529.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(403-405)gtC>gtT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Tretinoin(DB00755)						161.0	145.0	150.0					15																	78640310		2196	4293	6489	SO:0001819	synonymous_variant	1381	0	0					g.chr15:78640310C>T		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.405C>T	chr15.hg19:g.78640310C>T		0						p.V135V	NM_004378.2	NP_004369.1	0	1	1	1.986442	P29762	RABP1_HUMAN		4	510	+			Q6IAY7|Q8WTV5	Silent	SNP	ENST00000299529.6	1	1	hg19	c.405C>T	CCDS10301.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_004378			65	65		375	362	1		1	1		0	0	88	0		1	9.999940e-01	0	29	0	73	0	65	375
IREB2	3658	broad.mit.edu	37	15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	602					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)			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)		GGTGATTTGGTTACCTGTGGA	0.343																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1804-1806)gTt>gCt		iron-responsive element binding protein 2							124.0	130.0	128.0					15																	78780532		2195	4293	6488	SO:0001583	missense	3658	0	0					g.chr15:78780532T>C	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.1805T>C	chr15.hg19:g.78780532T>C	ENSP00000258886:p.Val602Ala	0						p.V602A	NM_004136.2	NP_004127	0	1	1	1.986442	P48200	IREB2_HUMAN		15	1954	+			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	1	1	hg19	c.1805T>C	CCDS10302.1	1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557804	0.65425	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.05	5.05	0.67936	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.175846	0.49305	D	0.000148	T	0.51432	0.1674	M	0.86178	2.8	0.80722	D	1	P	0.45569	0.861	B	0.42214	0.38	T	0.62006	-0.6945	10	0.54805	T	0.06	.	14.8033	0.69932	0.0:0.0:0.0:1.0	.	602	P48200	IREB2_HUMAN	A	602	ENSP00000258886:V602A	ENSP00000258886:V602A	V	+	2	0	0	IREB2	76567587	76567587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.807000	0.86032	1.905000	0.55150	0.528000	0.53228	GTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_004136			91	88		435	428	1		1	1		0	0	81	0		1	9.999855e-01	0	28	0	50	0	91	435
PSMA4	5685	broad.mit.edu	37	15	78837253	78837253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000044462.7	+	6	480	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	110					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)	cytoplasmic mRNA processing body (GO:0000932)|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)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328																																						ENST00000044462.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(328-330)ttG>ttA		proteasome (prosome, macropain) subunit, alpha type, 4							103.0	99.0	100.0					15																	78837253		2196	4293	6489	SO:0001819	synonymous_variant	5685	0	0					g.chr15:78837253G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.330G>A	chr15.hg19:g.78837253G>A		0					PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000560217.1_Silent_p.L79L	p.L110L	NM_002789.4	NP_002780.1	0	1	1	1.986442	P25789	PSA4_HUMAN		6	480	+			D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	1	1	hg19	c.330G>A	CCDS10303.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.840482	1	0.170000	NM_002789			53	53		237	233	1		1	1		0	0	63	0		1	1	0	121	0	418	0	53	237
CHRNA3	1136	broad.mit.edu	37	15	78893898	78893898	+	Silent	SNP	G	G	A	rs201180674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000326828.5	-	5	1470	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000348639.3_Silent_p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	362					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTTGCCCTCGTTGCTTGTTG	0.567																																						ENST00000326828.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1084-1086)aaC>aaT		cholinergic receptor, nicotinic, alpha 3 (neuronal)	Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	G	,	0,4392		0,0,2196	100.0	91.0	94.0		1086,1086	-3.8	0.0	15		94	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CHRNA3	NM_000743.4,NM_001166694.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	362/506,362/490	78893898	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	1136	4	121412	37				g.chr15:78893898G>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1086C>T	chr15.hg19:g.78893898G>A		0					CHRNA3_ENST00000348639.3_Silent_p.N362N	p.N362N	NM_000743.4	NP_000734.2	0	1	1	1.986442	P32297	ACHA3_HUMAN		5	1470	-			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	1	1	hg19	c.1086C>T	CCDS10305.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3	1	0	0		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000				82	82		367	361	1		1	1		0	0	99	0		1	2.309685e-01	0	2	0	3	0	82	367
CHRNB4	1143	broad.mit.edu	37	15	78921375	78921375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000261751.3	-	5	1383	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	424					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)	p.V424V(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGCCTCCTGCACATCCTGTC	0.592																																						ENST00000261751.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V424V(1)	endometrium(1)	22						c.(1270-1272)gtG>gtA		cholinergic receptor, nicotinic, beta 4 (neuronal)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)						72.0	66.0	68.0					15																	78921375		2196	4293	6489	SO:0001819	synonymous_variant	1143	1	121412	29				g.chr15:78921375C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1272G>A	chr15.hg19:g.78921375C>T		0					RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	p.V424V	NM_000750.3	NP_000741.1	0	1	1	1.986442	P30926	ACHB4_HUMAN		5	1383	-			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	1	1	hg19	c.1272G>A	CCDS10306.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				70	70		303	300	1		1	0		0	0	55	0		1	9.472544e-02	0	1	0	2	0	70	303
CHRNB4	1143	broad.mit.edu	37	15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000261751.3	-	5	1262	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	384					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CATGGAGTTCCCATAGAAGTT	0.647																																						ENST00000261751.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1150-1152)gGg>gTg		cholinergic receptor, nicotinic, beta 4 (neuronal)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)						53.0	54.0	54.0					15																	78921496		2196	4293	6489	SO:0001583	missense	1143	0	0					g.chr15:78921496C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1151G>T	chr15.hg19:g.78921496C>A	ENSP00000261751:p.Gly384Val	0					RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	p.G384V	NM_000750.3	NP_000741.1	0	1	1	1.986442	P30926	ACHB4_HUMAN		5	1262	-			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	1	1	hg19	c.1151G>T	CCDS10306.1	1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001711	0.07819	.	.	ENSG00000117971	ENST00000261751	T	0.69926	-0.44	5.3	0.0871	0.14449	5.3	0.0871	0.14449	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.56717	0.2004	M	0.62088	1.915	0.30273	N	0.792051	B	0.14805	0.011	B	0.21151	0.033	T	0.50303	-0.8844	9	0.25751	T	0.34	.	4.6321	0.12507	0.0:0.3665:0.1614:0.4721	.	384	P30926	ACHB4_HUMAN	V	384	ENSP00000261751:G384V	ENSP00000261751:G384V	G	-	2	0	0	CHRNB4	76708551	76708551	0.000000	0.05858	0.060000	0.19600	0.122000	0.20287	0.259000	0.18405	0.231000	0.21079	-0.136000	0.14681	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	1	0	1		2	2	2	0		0	0	34		34	32	1	2.060000	-3.010570	1	0.170000				45	43		202	193	1		1	0		0	0	34	0		1	0	0	1	0	0	0	45	202
CHRNB4	1143	broad.mit.edu	37	15	78923439	78923439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78923439G>T	ENST00000261751.3	-	4	449	c.338C>A	c.(337-339)cCt>cAt	p.P113H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	113					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CACGATGTCAGGCAACCAGAT	0.592																																						ENST00000261751.3	0.430000	0.100000	3.300000e-01	1.500000e-01	0.230000	0.248528	0.230000	0.220000																										0				22						c.(337-339)cCt>cAt		cholinergic receptor, nicotinic, beta 4 (neuronal)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)						122.0	95.0	104.0					15																	78923439		2196	4293	6489	SO:0001583	missense	1143	0	0					g.chr15:78923439G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.338C>A	chr15.hg19:g.78923439G>T	ENSP00000261751:p.Pro113His	0					RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H	p.P113H	NM_000750.3	NP_000741.1	0	1	1	1.986442	P30926	ACHB4_HUMAN		4	449	-			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	0	1	hg19	c.338C>A	CCDS10306.1	0	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762921	0.89932	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.98567	-5.0;-5.0	5.12	5.12	0.69794	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97969	1.0342	10	0.87932	D	0	.	18.6314	0.91361	0.0:0.0:1.0:0.0	.	113;113	E9PHE8;P30926	.;ACHB4_HUMAN	H	113	ENSP00000261751:P113H;ENSP00000416386:P113H	ENSP00000261751:P113H	P	-	2	0	0	CHRNB4	76710494	76710494	1.000000	0.71417	0.993000	0.49108	0.816000	0.46133	9.761000	0.98940	2.405000	0.81733	0.650000	0.86243	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-4.199953	1	0.170000				7	7		363	355	0		1			0	0	78	0		9.792844e-01	0	0	0	0	0	0	7	363
ADAMTS7	11173	broad.mit.edu	37	15	79058949	79058949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	ENST00000388820.4	-	19	3514	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1102					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGCAGCAGGATGGCTGTGT	0.657																																						ENST00000388820.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.988810	0.990000	1.000000																										0				54						c.(3304-3306)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 7							12.0	19.0	17.0					15																	79058949		2143	4270	6413	SO:0001583	missense	11173	0	0					g.chr15:79058949G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3304C>A	chr15.hg19:g.79058949G>T	ENSP00000373472:p.Pro1102Thr	0					ADAMTS7_ENST00000566303.1_5'Flank	p.P1102T	NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		19	3514	-			Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	0	1	hg19	c.3304C>A	CCDS32303.1	1	.	.	.	.	.	.	.	.	.	.	g	9.927	1.213878	0.22289	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	3.47	2.51	0.30379	3.47	2.51	0.30379	.	0.313022	0.29987	N	0.010681	T	0.52484	0.1737	M	0.72894	2.215	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.42882	-0.9425	10	0.28530	T	0.3	.	10.5915	0.45312	0.0:0.3802:0.6198:0.0	.	1102	Q9UKP4	ATS7_HUMAN	T	1102	ENSP00000373472:P1102T	ENSP00000373472:P1102T	P	-	1	0	0	ADAMTS7	76846004	76846004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.030000	0.13688	0.521000	0.28445	0.574000	0.79327	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_014272			22	20		178	164	0		1	0		0	0	29	0		9.999978e-01	2.304457e-01	0	0	0	8	0	22	178
ADAMTS7	11173	broad.mit.edu	37	15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	970	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667																																						ENST00000388820.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2908-2910)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							41.0	45.0	44.0					15																	79059345		2192	4280	6472	SO:0001583	missense	11173	0	0					g.chr15:79059345T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2908A>G	chr15.hg19:g.79059345T>C	ENSP00000373472:p.Thr970Ala	0					ADAMTS7_ENST00000566303.1_5'UTR	p.T970A	NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		19	3118	-			Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	1	1	hg19	c.2908A>G	CCDS32303.1	1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736240	0.03111	.	.	ENSG00000136378	ENST00000388820	T	0.50548	0.74	4.83	2.5	0.30297	4.83	2.5	0.30297	.	0.752267	0.12865	N	0.432744	T	0.28995	0.0720	N	0.21194	0.64	0.19300	N	0.999978	B	0.21452	0.056	B	0.27076	0.076	T	0.30650	-0.9971	10	0.05959	T	0.93	.	8.0235	0.30423	0.0:0.1736:0.0:0.8264	.	970	Q9UKP4	ATS7_HUMAN	A	970	ENSP00000373472:T970A	ENSP00000373472:T970A	T	-	1	0	0	ADAMTS7	76846400	76846400	1.000000	0.71417	0.004000	0.12327	0.062000	0.15995	2.832000	0.48152	0.213000	0.20722	-0.342000	0.07992	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_014272			60	61		284	278	1		1	0		0	0	65	0		1	9.969126e-01	0	0	0	44	0	60	284
ADAMTS7	11173	broad.mit.edu	37	15	79059868	79059868	+	Silent	SNP	G	G	A	rs368801533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	ENST00000388820.4	-	18	2922	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	904	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGCACGGCCCGGCGGG	0.697																																						ENST00000388820.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				54						c.(2710-2712)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 7		A		1,4333		0,1,2166	12.0	15.0	14.0		2712	-9.2	0.0	15		14	0,8544		0,0,4272	no	coding-synonymous	ADAMTS7	NM_014272.3		0,1,6438	AA,AG,GG		0.0,0.0231,0.0078		904/1687	79059868	1,12877	2167	4272	6439	SO:0001819	synonymous_variant	11173	1	119060	31				g.chr15:79059868G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2712C>T	chr15.hg19:g.79059868G>A		0					ADAMTS7_ENST00000566303.1_Intron	p.A904A	NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		18	2922	-			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	0	1	hg19	c.2712C>T	CCDS32303.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014272			18	16		65	63	0		1	0		0	0	11	0		9.999873e-01	6.760528e-01	0	0	0	10	0	18	65
ADAMTS7	11173	broad.mit.edu	37	15	79064008	79064008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	765	Spacer.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642																																						ENST00000388820.4	1.000000	0.770000	1	9.500000e-01	0.990000	0.977060	0.990000	1.000000																										0				54						c.(2293-2295)ggG>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							72.0	56.0	61.0					15																	79064008		2196	4293	6489	SO:0001819	synonymous_variant	11173	0	0					g.chr15:79064008C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2295G>T	chr15.hg19:g.79064008C>A		0					ADAMTS7_ENST00000566303.1_Intron	p.G765G	NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		15	2505	-			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	1	1	hg19	c.2295G>T	CCDS32303.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_014272			22	22		196	190	1		1	0		0	0	53	0		9.999988e-01	8.651575e-01	0	0	0	34	0	22	196
ADAMTS7	11173	broad.mit.edu	37	15	79064172	79064172	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637																																						ENST00000388820.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999876	0.990000	1.000000																										0				54						c.e15-1		ADAM metallopeptidase with thrombospondin type 1 motif, 7							40.0	30.0	33.0					15																	79064172		2196	4293	6489	SO:0001630	splice_region_variant	11173	0	0					g.chr15:79064172C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2132-1G>T	chr15.hg19:g.79064172C>A		0					ADAMTS7_ENST00000566303.1_Intron		NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		15	2342	-			Q14F51|Q6P7J9	Splice_Site	SNP	ENST00000388820.4	1	1	hg19		CCDS32303.1	1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748845	0.49257	.	.	ENSG00000136378	ENST00000388820	.	.	.	4.03	4.03	0.46877	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0564	0.71917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ADAMTS7	76851227	76851227	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	7.453000	0.80700	2.106000	0.64143	0.433000	0.28618	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.072168	1	0.170000	NM_014272	Intron		25	24		131	126	1		1			0	0	41	0		9.999999e-01	0	0	0	0	0	0	25	131
ADAMTS7	11173	broad.mit.edu	37	15	79082066	79082066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	381	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGCCAGCGGCAGGCCCG	0.672																																						ENST00000388820.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				54						c.(1141-1143)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							33.0	29.0	30.0					15																	79082066		2196	4292	6488	SO:0001819	synonymous_variant	11173	0	0					g.chr15:79082066C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1143G>A	chr15.hg19:g.79082066C>T		0					ADAMTS7_ENST00000566303.1_5'UTR	p.P381P	NM_014272.3	NP_055087.2	0	1	1	1.986442	Q9UKP4	ATS7_HUMAN		7	1353	-			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	1	1	hg19	c.1143G>A	CCDS32303.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-3.349400	1	0.170000	NM_014272			24	24		105	102	1		1	0		0	0	20	0		9.999998e-01	9.531028e-01	0	0	0	25	0	24	105
CTSH	1512	broad.mit.edu	37	15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622																																						ENST00000220166.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				10						c.(475-477)Gga>Aga		cathepsin H							73.0	71.0	72.0					15																	79224731		2196	4293	6489	SO:0001583	missense	1512	2	121412	33				g.chr15:79224731C>T	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.475G>A	chr15.hg19:g.79224731C>T	ENSP00000220166:p.Gly159Arg	0					CTSH_ENST00000534533.1_5'UTR	p.G159R	NM_004390.3	NP_004381.2	0	1	1	1.986442	P09668	CATH_HUMAN		6	584	-			B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	1	1	hg19	c.475G>A	CCDS10308.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893569	0.52121	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	T;T	0.27402	1.67;1.67	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.72551	-0.4259	10	0.66056	D	0.02	.	13.2051	0.59790	0.0:1.0:0.0:0.0	.	147	E9PBP2	.	R	159;147;83	ENSP00000220166:G159R;ENSP00000435329:G83R	ENSP00000220166:G159R	G	-	1	0	0	CTSH	77011786	77011786	0.999000	0.42202	0.317000	0.25265	0.177000	0.22998	4.443000	0.59994	2.155000	0.67459	0.655000	0.94253	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-2.955058	1	0.170000	NM_004390			38	38		197	196	1		1	1		0	0	58	0		1	1	0	170	0	1211	0	38	197
RASGRF1	5923	broad.mit.edu	37	15	79296436	79296436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)			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						AGGAGAACTTGCGGGTGGCGC	0.647																																						ENST00000419573.3	0.620000	0.250000	5.200000e-01	3.200000e-01	0.410000	0.429635	0.410000	0.410000																										0				71						c.(2203-2205)cgC>cgT		Ras protein-specific guanine nucleotide-releasing factor 1							40.0	46.0	44.0					15																	79296436		2196	4293	6489	SO:0001819	synonymous_variant	5923	0	0					g.chr15:79296436G>A	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.2205C>T	chr15.hg19:g.79296436G>A		0					RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R|RASGRF1_ENST00000560334.1_5'UTR	p.R735R	NM_002891.4	NP_002882.3	0	1	1	1.986442	Q13972	RGRF1_HUMAN		16	2479	-			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	1	1	hg19	c.2205C>T	CCDS10309.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-16.789660	1	0.170000	NM_002891			18	16		493	484	0		1	0		0	0	83	0		9.999787e-01	7.264840e-02	0	1	0	11	0	18	493
KIAA1024	23251	broad.mit.edu	37	15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	897						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458																																						ENST00000305428.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				49						c.(2689-2691)Gct>Act		KIAA1024							77.0	67.0	70.0					15																	79760664		2196	4293	6489	SO:0001583	missense	23251	1	121412	25				g.chr15:79760664G>A	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.2689G>A	chr15.hg19:g.79760664G>A	ENSP00000307461:p.Ala897Thr	0						p.A897T	NM_015206.2	NP_056021.1	0	1	1	1.986442	Q9UPX6	K1024_HUMAN		4	2764	+			A7MD43	Missense_Mutation	SNP	ENST00000305428.3	1	1	hg19	c.2689G>A	CCDS32306.1	1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625106	0.03636	.	.	ENSG00000169330	ENST00000305428	T	0.39997	1.05	5.67	0.306	0.15806	5.67	0.306	0.15806	.	0.554149	0.19760	N	0.106696	T	0.13628	0.0330	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.23726	-1.0180	9	.	.	.	.	4.7925	0.13256	0.362:0.0:0.5035:0.1345	.	897	Q9UPX6	K1024_HUMAN	T	897	ENSP00000307461:A897T	.	A	+	1	0	0	KIAA1024	77547719	77547719	0.425000	0.25498	0.001000	0.08648	0.062000	0.15995	1.620000	0.36976	0.064000	0.16427	-0.122000	0.15005	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_015206			28	27		110	107	1		1	0		0	0	24	0		1	1.939244e-01	0	0	0	4	0	28	110
FAH	2184	broad.mit.edu	37	15	80478528	80478528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000407106.1	+	15	1392	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	FAH_ENST00000539156.1_Silent_p.L343L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000561421.1_Silent_p.L413L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	413					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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562									Tyrosinemia, type 1																													ENST00000407106.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1237-1239)Ctg>Ttg		fumarylacetoacetate hydrolase (fumarylacetoacetase)							159.0	133.0	142.0					15																	80478528		2203	4300	6503	SO:0001819	synonymous_variant	2184	0	0		Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	g.chr15:80478528C>T	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.1237C>T	chr15.hg19:g.80478528C>T		0					FAH_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000539156.1_Silent_p.L343L	p.L413L			0	1	1	1.986442	P16930	FAAA_HUMAN		15	1392	+			B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	1	1	hg19	c.1237C>T	CCDS10314.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				64	62		276	268	1		1	1		0	0	74	0		1	9.999979e-01	0	10	0	75	0	64	276
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000303329.4	+	10	1176	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000533983.1_Silent_p.F326F	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			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)			CCACAGAGTTCTTATCCCGGC	0.493																																						ENST00000303329.4	0.560000	0.220000	4.700000e-01	2.900000e-01	0.370000	0.385713	0.370000	0.370000																										0				35						c.(1009-1011)ttC>ttT		aryl-hydrocarbon receptor nuclear translocator 2							170.0	142.0	152.0					15																	80845037		2203	4300	6503	SO:0001819	synonymous_variant	9915	0	0					g.chr15:80845037C>T	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.1011C>T	chr15.hg19:g.80845037C>T		0					ARNT2_ENST00000533983.1_Silent_p.F326F|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Silent_p.F326F	p.F337F	NM_014862.3	NP_055677.3	0	1	1	1.986442	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)	10	1176	+			B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	1	1	hg19	c.1011C>T	CCDS32307.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2	0	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.767738	1	0.170000				18	17		552	542	0		1	0		0	0	107	0		9.999788e-01	1.576579e-02	0	0	0	6	0	18	552
CEMIP	57214	broad.mit.edu	37	15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site			Q8WUJ3	CEMIP_HUMAN		1354					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)			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						GTGCCCATCCCTGTGGTGAAG	0.557																																						ENST00000394685.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(4060-4062)cCt>cAt									177.0	150.0	159.0					15																	81241240		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr15:81241240C>A																												ENST00000394685.3:c.4061C>A	chr15.hg19:g.81241240C>A	ENSP00000378177:p.Pro1354His	0					KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site	p.P1354H			0	1	1	1.986442	Q8WUJ3	CEMIP_HUMAN		30	4480	+			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	0	1	hg19	c.4061C>A	CCDS10315.1	1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528904	0.64860	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.70399	-0.48;-0.48;-0.48	5.26	4.34	0.51931	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.83673	0.0167	10	0.87932	D	0	-21.3879	13.7161	0.62697	0.0:0.9245:0.0:0.0755	.	1354	Q8WUJ3	K1199_HUMAN	H	1354	ENSP00000220244:P1354H;ENSP00000378177:P1354H;ENSP00000348583:P1354H	ENSP00000220244:P1354H	P	+	2	0	0	KIAA1199	79028295	79028295	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	6.475000	0.73582	1.361000	0.45981	0.650000	0.86243	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1	1	0	1		2	2	2	0		0	0	163		163	161	1	2.060000	-2.644200	1	0.170000				129	127		660	652	0		1	1		0	0	163	0		1	1	0	134	0	161	0	129	660
MESDC1	59274	broad.mit.edu	37	15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721																																						ENST00000267984.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998202	0.990000	1.000000																										0				3						c.(331-333)aGc>aAc		mesoderm development candidate 1							14.0	13.0	13.0					15																	81294944		1995	3889	5884	SO:0001583	missense	59274	0	0					g.chr15:81294944G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.332G>A	chr15.hg19:g.81294944G>A	ENSP00000267984:p.Ser111Asn	0						p.S111N	NM_022566.2	NP_072088.1	0	1	1	1.986442	Q9H1K6	MESD1_HUMAN		1	1650	+				Missense_Mutation	SNP	ENST00000267984.2	0	1	hg19	c.332G>A	CCDS10316.1	1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326163	0.41197	.	.	ENSG00000140406	ENST00000267984	T	0.08193	3.12	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.146929	0.45606	U	0.000351	T	0.05318	0.0141	N	0.14661	0.345	0.44181	D	0.996998	B	0.25169	0.119	B	0.24155	0.051	T	0.33214	-0.9877	10	0.56958	D	0.05	-15.6875	8.6701	0.34145	0.0:0.165:0.6648:0.1702	.	111	Q9H1K6	MESD1_HUMAN	N	111	ENSP00000267984:S111N	ENSP00000267984:S111N	S	+	2	0	0	MESDC1	79081999	79081999	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.930000	0.70104	1.935000	0.56089	0.313000	0.20887	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_022566			18	18		108	107	0		1	1		0	0	23	0		9.999879e-01	9.872973e-01	0	10	0	36	0	18	108
C15orf26	161502	broad.mit.edu	37	15	81427610	81427610	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26											endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343																																						ENST00000286732.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999767	0.990000	1.000000																										0				17						c.e2-1		chromosome 15 open reading frame 26							65.0	68.0	67.0					15																	81427610		1793	4067	5860	SO:0001630	splice_region_variant	161502	0	0					g.chr15:81427610G>T	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.70-1G>T	chr15.hg19:g.81427610G>T		0							NM_173528.2	NP_775799.2	0	1	1	1.986442	Q6P656	CO026_HUMAN		2	152	+			Q8N906	Splice_Site	SNP	ENST00000286732.4	1	1	hg19		CCDS42068.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026856	0.35797	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	C15orf26	79214665	79214665	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.320980	1	0.170000	NM_173528	Intron		34	32		216	210	1		1			0	0	64	0		1	0	0	0	0	0	0	34	216
C15orf26	161502	broad.mit.edu	37	15	81430434	81430434	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393																																						ENST00000286732.4	1.000000	0.700000	1	8.300000e-01	0.990000	0.937422	0.990000	1.000000																										0				17						c.(433-435)caG>caA		chromosome 15 open reading frame 26							194.0	186.0	188.0					15																	81430434		1901	4128	6029	SO:0001819	synonymous_variant	161502	0	0					g.chr15:81430434G>A	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.435G>A	chr15.hg19:g.81430434G>A		0						p.Q145Q	NM_173528.2	NP_775799.2	0	1	1	1.986442	Q6P656	CO026_HUMAN		4	518	+			Q8N906	Silent	SNP	ENST00000286732.4	1	1	hg19	c.435G>A	CCDS42068.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-9.620500	1	0.170000	NM_173528			33	33		356	348	0		1			0	0	100	0		1	0	0	0	0	0	0	33	356
IL16	3603	broad.mit.edu	37	15	81571983	81571983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000302987.4	+	7	949	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000394660.2_Silent_p.L317L			Q14005	IL16_HUMAN	interleukin 16	317	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607																																						ENST00000302987.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(949-951)Ctg>Ttg		interleukin 16							39.0	42.0	41.0					15																	81571983		1964	4158	6122	SO:0001819	synonymous_variant	3603	0	0					g.chr15:81571983C>T	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.949C>T	chr15.hg19:g.81571983C>T		0					IL16_ENST00000394660.2_Silent_p.L317L	p.L317L			0	1	1	1.986442	Q14005	IL16_HUMAN		7	949	+			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	1	1	hg19	c.949C>T	CCDS42069.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_172217			49	49		231	230	0		1	0		0	0	55	0		1	3.597846e-01	0	0	0	7	0	49	231
IL16	3603	broad.mit.edu	37	15	81592491	81592491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000302987.4	+	13	2824	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000394652.2_Silent_p.L241L|IL16_ENST00000394660.2_Silent_p.L942L			Q14005	IL16_HUMAN	interleukin 16	942				LRL -> PRE (in Ref. 5). {ECO:0000305}.	immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652																																						ENST00000302987.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2824-2826)Cta>Tta		interleukin 16							31.0	35.0	33.0					15																	81592491		2203	4300	6503	SO:0001819	synonymous_variant	3603	0	0					g.chr15:81592491C>T	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.2824C>T	chr15.hg19:g.81592491C>T		0					IL16_ENST00000394660.2_Silent_p.L942L|IL16_ENST00000394652.2_Silent_p.L241L	p.L942L			0	1	1	1.986442	Q14005	IL16_HUMAN		13	2824	+			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	1	1	hg19	c.2824C>T	CCDS42069.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	0	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_172217			63	62		246	243	0		1	0		0	0	55	0		1	9.999643e-01	0	0	0	62	0	63	246
STARD5	80765	broad.mit.edu	37	15	81614779	81614779	+	Silent	SNP	G	G	A	rs142670896	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	84	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000302824.6	1.000000	0.640000	1	7.700000e-01	0.910000	0.898349	0.910000	1.000000																										0				6						c.(250-252)acC>acT		StAR-related lipid transfer (START) domain containing 5		G		3,4403	6.2+/-15.9	0,3,2200	160.0	133.0	142.0		252	4.5	0.0	15	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	STARD5	NM_181900.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		84/214	81614779	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80765	10	121412	43				g.chr15:81614779G>A	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.252C>T	chr15.hg19:g.81614779G>A		0					RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA	p.T84T	NM_181900.2	NP_871629.1	0	1	1	1.986442	Q9NSY2	STAR5_HUMAN		3	277	-			P59094	Silent	SNP	ENST00000302824.6	1	1	hg19	c.252C>T	CCDS10318.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.841672	1	0.170000				33	34		387	375	0		1	1		0	0	96	0		1	8.405043e-01	0	6	0	35	0	33	387
TMC3	342125	broad.mit.edu	37	15	81625165	81625165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000359440.5	-	22	3033	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.L967L|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCCCGACGGAGGTCTATCA	0.577																																						ENST00000359440.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				34						c.(2896-2898)ctC>ctT		transmembrane channel-like 3							16.0	17.0	16.0					15																	81625165		1851	4074	5925	SO:0001819	synonymous_variant	342125	0	0					g.chr15:81625165G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2898C>T	chr15.hg19:g.81625165G>A		0					RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.L967L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.L966L	NM_001080532.1	NP_001074001.1	0	1	1	1.986442				22	3033	-				Silent	SNP	ENST00000359440.5	1	1	hg19	c.2898C>T	CCDS45324.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-20.000000	1	0.170000	NM_181841			23	20		98	95	1		1			0	0	21	0		9.999995e-01	0	0	0	0	0	0	23	98
TMC3	342125	broad.mit.edu	37	15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000359440.5	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A229V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGGAAATACGCCAAGGGCAG	0.458																																						ENST00000359440.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(685-687)gCg>gTg		transmembrane channel-like 3							70.0	74.0	72.0					15																	81650547		1919	4111	6030	SO:0001583	missense	342125	0	0					g.chr15:81650547G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.686C>T	chr15.hg19:g.81650547G>A	ENSP00000352413:p.Ala229Val	0					RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA	p.A229V	NM_001080532.1	NP_001074001.1	0	1	1	1.986442				7	821	-				Missense_Mutation	SNP	ENST00000359440.5	1	1	hg19	c.686C>T	CCDS45324.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.540252	0.96474	.	.	ENSG00000188869	ENST00000359440	D	0.85629	-2.01	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.275034	0.34725	N	0.003737	D	0.93203	0.7835	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.93632	0.6957	10	0.87932	D	0	-20.1369	19.6883	0.95987	0.0:0.0:1.0:0.0	.	229;229	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	229	ENSP00000352413:A229V	ENSP00000352413:A229V	A	-	2	0	0	TMC3	79437602	79437602	1.000000	0.71417	0.960000	0.40013	0.893000	0.52053	9.005000	0.93587	2.654000	0.90174	0.650000	0.86243	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_181841			66	65		336	329	0		1			0	0	60	0		1	0	0	0	0	0	0	66	336
TMC3	342125	broad.mit.edu	37	15	81666401	81666401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000359440.5	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000558726.1_Silent_p.A6A	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCGCTGGGATGCCTTCGAGG	0.547																																						ENST00000359440.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				34						c.(16-18)gcA>gcG		transmembrane channel-like 3							76.0	76.0	76.0					15																	81666401		2050	4204	6254	SO:0001819	synonymous_variant	342125	0	0					g.chr15:81666401T>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.18A>G	chr15.hg19:g.81666401T>C		0					TMC3_ENST00000558726.1_Silent_p.A6A	p.A6A	NM_001080532.1	NP_001074001.1	0	1	1	1.986442				1	153	-				Silent	SNP	ENST00000359440.5	1	1	hg19	c.18A>G	CCDS45324.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_181841			21	21		95	91	1		1			0	0	25	0		9.999983e-01	0	0	0	0	0	0	21	95
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	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	550					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627																																						ENST00000329713.4	0.660000	0.260000	5.500000e-01	3.400000e-01	0.430000	0.451460	0.430000	0.430000																										0				19						c.(1648-1650)agC>agT		mex-3 RNA binding family member B							56.0	55.0	55.0					15																	82335561		2203	4300	6503	SO:0001819	synonymous_variant	84206	0	0					g.chr15:82335561G>A	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.1650C>T	chr15.hg19:g.82335561G>A		0					AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	p.S550S	NM_032246.4	NP_115622.2	0	1	1	1.986442	Q6ZN04	MEX3B_HUMAN		2	2085	-			Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	1	1	hg19	c.1650C>T	CCDS10319.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-4.121306	1	0.170000	XM_290645			17	17		443	439	0		1	0		0	0	86	0		9.999640e-01	1.562936e-01	0	1	0	17	0	17	443
MEX3B	84206	broad.mit.edu	37	15	82335787	82335787	+	Missense_Mutation	SNP	G	G	A	rs369068173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	ENST00000329713.4	-	2	1859	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	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	475					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAGCCCGTTGGCATAAGCGGC	0.697																																						ENST00000329713.4	1.000000	0.770000	1	9.900000e-01	0.990000	0.985391	0.990000	1.000000																										0				19						c.(1423-1425)gCc>gTc		mex-3 RNA binding family member B		G	VAL/ALA	1,4311		0,1,2155	23.0	22.0	22.0		1424	4.5	1.0	15		22	0,8450		0,0,4225	no	missense	MEX3B	NM_032246.3	64	0,1,6380	AA,AG,GG		0.0,0.0232,0.0078	benign	475/570	82335787	1,12761	2156	4225	6381	SO:0001583	missense	84206	2	114992	29				g.chr15:82335787G>A	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.1424C>T	chr15.hg19:g.82335787G>A	ENSP00000329918:p.Ala475Val	0					AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	p.A475V	NM_032246.4	NP_115622.2	0	1	1	1.986442	Q6ZN04	MEX3B_HUMAN		2	1859	-			Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	0	1	hg19	c.1424C>T	CCDS10319.1	1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	2.32E-4	0.0	ENSG00000183496	ENST00000329713	T	0.23950	1.88	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.375112	0.23532	N	0.047161	T	0.14614	0.0353	N	0.08118	0	0.80722	D	1	B	0.25007	0.116	B	0.24006	0.05	T	0.10567	-1.0624	10	0.23302	T	0.38	-13.7427	16.1323	0.81449	0.0:0.0:1.0:0.0	.	475	Q6ZN04	MEX3B_HUMAN	V	475	ENSP00000329918:A475V	ENSP00000329918:A475V	A	-	2	0	0	MEX3B	80122842	80122842	0.998000	0.40836	0.998000	0.56505	0.614000	0.37383	4.819000	0.62664	2.333000	0.79357	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.912190	1	0.170000	XM_290645			8	8		47	47	1		1	0		0	0	13	0		9.912247e-01	3.648065e-01	0	0	0	8	0	8	47
MEX3B	84206	broad.mit.edu	37	15	82336392	82336392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82336392C>T	ENST00000329713.4	-	2	1254	c.819G>A	c.(817-819)acG>acA	p.T273T	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	273					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGGGGGTGGGCGTGATGCTGG	0.652																																						ENST00000329713.4	0.720000	0.230000	5.800000e-01	3.200000e-01	0.440000	0.459209	0.440000	0.430000																										0				19						c.(817-819)acG>acA		mex-3 RNA binding family member B							21.0	25.0	23.0					15																	82336392		2197	4286	6483	SO:0001819	synonymous_variant	84206	0	0					g.chr15:82336392C>T	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.819G>A	chr15.hg19:g.82336392C>T		0					AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	p.T273T	NM_032246.4	NP_115622.2	0	1	1	1.986442	Q6ZN04	MEX3B_HUMAN		2	1254	-			Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	0	1	hg19	c.819G>A	CCDS10319.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-3.016142	1	0.170000	XM_290645			11	11		288	264	0		1	0		0	0	37	0		9.972618e-01	1.180178e-01	0	0	0	15	0	11	288
EFTUD1	79631	broad.mit.edu	37	15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	701					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358																																						ENST00000268206.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2101-2103)aaA>aaC		elongation factor Tu GTP binding domain containing 1							147.0	147.0	147.0					15																	82444692		1830	4087	5917	SO:0001583	missense	79631	0	0					g.chr15:82444692T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2103A>C	chr15.hg19:g.82444692T>G	ENSP00000268206:p.Lys701Asn	0					EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	p.K701N	NM_024580.5	NP_078856.4	0	1	1	1.986442	Q7Z2Z2	ETUD1_HUMAN		18	2271	-			A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	1	1	hg19	c.2103A>C	CCDS42071.1	1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.73	3.43	0.39272	5.73	3.43	0.39272	Ribosomal protein S5 domain 2-type fold (1);	0.157020	0.28766	N	0.014218	T	0.24509	0.0594	N	0.10809	0.05	0.58432	D	0.999998	P;P	0.52692	0.954;0.955	P;P	0.58928	0.848;0.839	T	0.03034	-1.1080	10	0.37606	T	0.19	-7.7117	10.1789	0.42955	0.0:0.135:0.0:0.865	.	650;701	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	701;650	ENSP00000268206:K701N;ENSP00000352418:K650N	ENSP00000268206:K701N	K	-	3	2	2	EFTUD1	80231747	80231747	1.000000	0.71417	0.749000	0.31150	0.988000	0.76386	1.473000	0.35387	0.445000	0.26639	-0.400000	0.06385	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_024580			126	125		652	643	1		1	1		0	0	154	0		1	9.999882e-01	0	22	0	62	0	126	652
EFTUD1	79631	broad.mit.edu	37	15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	168	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373																																						ENST00000268206.7	1.000000	0.710000	1	9.900000e-01	0.990000	0.975354	0.990000	1.000000																										0				32						c.(502-504)aAt>aCt		elongation factor Tu GTP binding domain containing 1							36.0	32.0	33.0					15																	82532772		1790	4067	5857	SO:0001583	missense	79631	0	0					g.chr15:82532772T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.503A>C	chr15.hg19:g.82532772T>G	ENSP00000268206:p.Asn168Thr	0					EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	p.N168T	NM_024580.5	NP_078856.4	0	1	1	1.986442	Q7Z2Z2	ETUD1_HUMAN		6	671	-			A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	0	1	hg19	c.503A>C	CCDS42071.1	1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006488	0.54361	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75938	-0.98;-0.98	4.01	4.01	0.46588	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (1);	0.102941	0.40302	U	0.001139	T	0.64238	0.2580	N	0.26162	0.8	0.44899	D	0.997911	B;B	0.32693	0.38;0.142	B;B	0.36030	0.205;0.216	T	0.68435	-0.5409	10	0.66056	D	0.02	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	117;168	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	168;117	ENSP00000268206:N168T;ENSP00000352418:N117T	ENSP00000268206:N168T	N	-	2	0	0	EFTUD1	80319827	80319827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	1.804000	0.52760	0.438000	0.28831	AAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-17.593750	1	0.170000	NM_024580			10	10		75	75	1		1	1		0	0	21	0		9.974610e-01	9.937889e-01	0	19	0	52	0	10	75
FAM154B	283726	broad.mit.edu	37	15	82555261	82555261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000339465.5	+	1	110	c.41T>G	c.(40-42)aTt>aGt	p.I14S	FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|EFTUD1_ENST00000359445.3_5'Flank|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|EFTUD1_ENST00000268206.7_5'Flank|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	14										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642																																						ENST00000339465.5	1.000000	0.810000	1	9.900000e-01	0.990000	0.988170	0.990000	1.000000																										0				19						c.(40-42)aTt>aGt		family with sequence similarity 154, member B							112.0	103.0	106.0					15																	82555261		2201	4300	6501	SO:0001583	missense	283726	0	0					g.chr15:82555261T>G	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.41T>G	chr15.hg19:g.82555261T>G	ENSP00000340445:p.Ile14Ser	0					FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|EFTUD1_ENST00000268206.7_5'Flank|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|EFTUD1_ENST00000359445.3_5'Flank|FAM154B_ENST00000565501.1_3'UTR	p.I14S	NM_001008226.1	NP_001008227.1	0	1	1	1.986442	Q658L1	F154B_HUMAN		1	110	+			B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	0	0	hg19	c.41T>G	CCDS32310.1	1	.	.	.	.	.	.	.	.	.	.	T	9.312	1.055836	0.19907	.	.	ENSG00000188659	ENST00000339465	T	0.17528	2.27	3.22	3.22	0.36961	3.22	3.22	0.36961	.	0.162599	0.37095	U	0.002253	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14337	-1.0476	10	0.59425	D	0.04	-10.1081	11.6085	0.51045	0.0:0.0:0.0:1.0	.	14	Q658L1	F154B_HUMAN	S	14	ENSP00000340445:I14S	ENSP00000340445:I14S	I	+	2	0	0	FAM154B	80342316	80342316	1.000000	0.71417	0.990000	0.47175	0.342000	0.28953	4.568000	0.60857	1.480000	0.48289	0.172000	0.16884	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-17.976400	1	0.170000	NM_001008226			10	10		63	62	1		1	0		0	0	11	0		9.973767e-01	6.165414e-02	0	0	0	3	0	10	63
AP3B2	8120	broad.mit.edu	37	15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000261722.3	-	15	1960	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	585					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587																																						ENST00000261722.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1753-1755)Ctc>Atc		adaptor-related protein complex 3, beta 2 subunit							61.0	68.0	66.0					15																	83335598		1955	4134	6089	SO:0001583	missense	8120	0	0					g.chr15:83335598G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1753C>A	chr15.hg19:g.83335598G>T	ENSP00000261722:p.Leu585Ile	0					AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I	p.L585I	NM_004644.3	NP_004635.2	0	1	1	1.986442	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)	15	1960	-			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	1	1	hg19	c.1753C>A	CCDS45331.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662158	0.88251	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.92	0.64577	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52266	1.64	0.80722	D	1	D;P;P	0.56968	0.978;0.756;0.859	P;P;P	0.53006	0.715;0.456;0.679	T	0.15263	-1.0443	10	0.35671	T	0.21	-24.1255	15.1021	0.72288	0.068:0.0:0.932:0.0	.	553;585;585	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	585;553;585	ENSP00000261722:L585I;ENSP00000438721:L553I;ENSP00000440984:L585I	ENSP00000261722:L585I	L	-	1	0	0	AP3B2	81132653	81132653	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.838000	0.99474	1.475000	0.48197	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000				76	74		378	370	1		1	0		0	0	97	0		1	2.882068e-02	0	0	0	2	0	76	378
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535348.1_Silent_p.N374N|AP3B2_ENST00000535359.1_Silent_p.N406N|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572																																						ENST00000261722.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				41						c.(1216-1218)aaC>aaT		adaptor-related protein complex 3, beta 2 subunit							51.0	49.0	50.0					15																	83346884		1943	4146	6089	SO:0001819	synonymous_variant	8120	0	0					g.chr15:83346884G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1218C>T	chr15.hg19:g.83346884G>A		0					AP3B2_ENST00000535359.1_Silent_p.N406N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.N374N	p.N406N	NM_004644.3	NP_004635.2	0	1	1	1.986442	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)	11	1425	-			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	1	1	hg19	c.1218C>T	CCDS45331.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000				26	26		101	99	1		1	0		0	0	44	0		1	0	0	0	0	1	0	26	101
FSD2	123722	broad.mit.edu	37	15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000334574.8	-	7	1299	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	373										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498																																						ENST00000334574.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				18						c.(1117-1119)tCt>tAt		fibronectin type III and SPRY domain containing 2							42.0	42.0	42.0					15																	83440974		1882	4124	6006	SO:0001583	missense	123722	0	0					g.chr15:83440974G>T	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.1118C>A	chr15.hg19:g.83440974G>T	ENSP00000335651:p.Ser373Tyr	0					FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y	p.S373Y			0	1	1	1.986442	A1L4K1	FSD2_HUMAN		7	1299	-			B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	1	1	hg19	c.1118C>A	CCDS45332.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508891	0.64410	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.58797	0.31;1.7	5.42	4.45	0.53987	5.42	4.45	0.53987	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057505	0.64402	D	0.000001	T	0.72779	0.3503	M	0.62723	1.935	0.43852	D	0.996446	D;D	0.76494	0.987;0.999	P;D	0.74348	0.883;0.983	T	0.75733	-0.3214	10	0.66056	D	0.02	-20.8773	16.226	0.82293	0.0:0.1776:0.8224:0.0	.	373;373	B7ZM02;A1L4K1	.;FSD2_HUMAN	Y	373	ENSP00000335651:S373Y;ENSP00000444078:S373Y	ENSP00000335651:S373Y	S	-	2	0	0	FSD2	81238028	81238028	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.199000	0.51043	2.525000	0.85131	0.561000	0.74099	TCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_001007122			19	18		54	54	1		1			0	0	15	0		9.999964e-01	0	0	0	0	0	0	19	54
WHAMM	123720	broad.mit.edu	37	15	83478510	83478510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	ENST00000286760.4	+	1	131	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	11	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGCCTGGAGGGCTGGGTGCCG	0.736																																						ENST00000286760.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998527	0.990000	1.000000																										0				13						c.(31-33)gGc>gAc		WAS protein homolog associated with actin, golgi membranes and microtubules							6.0	7.0	6.0					15																	83478510		1597	3593	5190	SO:0001583	missense	123720	0	0					g.chr15:83478510G>A	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.32G>A	chr15.hg19:g.83478510G>A	ENSP00000286760:p.Gly11Asp	0						p.G11D	NM_001080435.1	NP_001073904.1	0	1	1	1.986442	Q8TF30	WHAMM_HUMAN		1	131	+			Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	0	1	hg19	c.32G>A	CCDS45333.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.131709	0.94473	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09255	3.0	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00521	-1.1691	10	0.52906	T	0.07	.	18.2166	0.89887	0.0:0.0:1.0:0.0	.	11	Q8TF30	WHAMM_HUMAN	D	11	ENSP00000286760:G11D	ENSP00000234505:G11D	G	+	2	0	0	WHAMM	81275564	81275564	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.840000	0.75369	2.547000	0.85894	0.585000	0.79938	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000				12	12		53	53	0		1			0	0	9	0		9.994254e-01	0	0	0	0	0	0	12	53
SH3GL3	6457	broad.mit.edu	37	15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000427482.2	+	4	554	c.248C>T	c.(247-249)aCc>aTc	p.T83I	SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T91I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	83	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468																																						ENST00000427482.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(247-249)aCc>aTc		SH3-domain GRB2-like 3							86.0	86.0	86.0					15																	84237341		2203	4300	6503	SO:0001583	missense	6457	0	0					g.chr15:84237341C>T	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.248C>T	chr15.hg19:g.84237341C>T	ENSP00000391372:p.Thr83Ile	0					SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T91I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I	p.T83I	NM_003027.3	NP_003018.3	0	1	1	1.986442	Q99963	SH3G3_HUMAN		4	554	+			O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	1	1	hg19	c.248C>T	CCDS10325.2	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888960	0.33348	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.86	2.82	0.32997	4.86	2.82	0.32997	BAR (3);	0.420176	0.25997	N	0.026979	T	0.28928	0.0718	L	0.57536	1.79	0.38708	D	0.953143	B;B;B	0.28820	0.224;0.054;0.076	B;B;B	0.28305	0.088;0.064;0.084	T	0.18903	-1.0322	10	0.38643	T	0.18	-25.1471	11.2328	0.48923	0.1415:0.7217:0.1368:0.0	.	83;83;91	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	83;83;91;91	ENSP00000391372:T83I;ENSP00000439239:T83I;ENSP00000320092:T91I;ENSP00000397871:T91I	ENSP00000320092:T91I	T	+	2	0	0	SH3GL3	82028345	82028345	0.427000	0.25514	0.844000	0.33320	0.876000	0.50452	0.547000	0.23299	1.148000	0.42385	0.544000	0.68410	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_003027			63	60		348	343	1		1			0	0	78	0		1	0	0	0	0	0	0	63	348
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458																																						ENST00000427482.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999878	0.990000	1.000000																										0				30						c.(757-759)Cga>Tga		SH3-domain GRB2-like 3							131.0	96.0	108.0					15																	84257442		2203	4300	6503	SO:0001587	stop_gained	6457	3	121412	37				g.chr15:84257442C>T	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.757C>T	chr15.hg19:g.84257442C>T	ENSP00000391372:p.Arg253*	0					SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*	p.R253*	NM_003027.3	NP_003018.3	0	1	1	1.986442	Q99963	SH3G3_HUMAN		8	1063	+			O43553|O43554	Nonsense_Mutation	SNP	ENST00000427482.2	0	1	hg19	c.757C>T	CCDS10325.2	1	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	2	SH3GL3	82048446	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-15.738390	1	0.170000	NM_003027			29	29		164	160	0		1			0	0	39	0		1	0	0	0	0	0	0	29	164
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	286						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)			TTAACAGCCCCGGCGTCTTTC	0.378																																						ENST00000286744.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				130						c.(856-858)ccC>ccT		ADAMTS-like 3							56.0	62.0	60.0					15																	84539609		2203	4300	6503	SO:0001819	synonymous_variant	57188	5	121406	40				g.chr15:84539609C>T	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.858C>T	chr15.hg19:g.84539609C>T		0					ADAMTSL3_ENST00000567476.1_Silent_p.P286P	p.P286P	NM_207517.2	NP_997400.2	0	1	1	1.986442	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	9	1082	+			A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	1	1	hg19	c.858C>T	CCDS10326.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.876199	1	0.170000	NM_207517			66	66		254	251	1		1	0		0	0	66	0		1	5.181325e-01	0	0	0	8	0	66	254
WDR73	84942	broad.mit.edu	37	15	85186746	85186746	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85186746G>T	ENST00000434634.2	-	8	1152	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	364										cervix(1)|large_intestine(1)|lung(1)	3						CATGCAGAGAGGCATCATTTG	0.542																																						ENST00000434634.2	1.000000	0.600000	1	9.100000e-01	0.990000	0.958029	0.990000	1.000000																										0				3						c.(1090-1092)gcC>gcA		WD repeat domain 73							96.0	106.0	103.0					15																	85186746		2170	4286	6456	SO:0001819	synonymous_variant	84942	0	0					g.chr15:85186746G>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1092C>A	chr15.hg19:g.85186746G>T		0					WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	p.A364A	NM_032856.2	NP_116245.2	0	1	1	1.986442	Q6P4I2	WDR73_HUMAN		8	1152	-			Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	0	1	hg19	c.1092C>A	CCDS45339.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-12.515140	1	0.170000	NM_032856			6	6		43	41	1		1	1		0	0	10	0		9.638013e-01	9.881158e-01	0	13	0	52	0	6	43
WDR73	84942	broad.mit.edu	37	15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453																																						ENST00000434634.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(250-252)aGg>aAg		WD repeat domain 73							165.0	164.0	164.0					15																	85191804		1942	4136	6078	SO:0001583	missense	84942	0	0					g.chr15:85191804C>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.251G>A	chr15.hg19:g.85191804C>T	ENSP00000387982:p.Arg84Lys	0					WDR73_ENST00000398528.3_5'UTR	p.R84K	NM_032856.2	NP_116245.2	0	1	1	1.986442	Q6P4I2	WDR73_HUMAN		4	311	-			Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	1	1	hg19	c.251G>A	CCDS45339.1	1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432820	0.25813	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28454	1.61	5.91	0.265	0.15612	5.91	0.265	0.15612	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.613293	0.17647	N	0.166813	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.14172	-1.0482	10	0.45353	T	0.12	-11.0667	4.9785	0.14153	0.0:0.4561:0.1674:0.3765	.	84;84	B4DI20;Q6P4I2	.;WDR73_HUMAN	K	92;84	ENSP00000387982:R84K	ENSP00000381539:R92K	R	-	2	0	0	WDR73	82992808	82992808	0.000000	0.05858	0.009000	0.14445	0.936000	0.57629	0.010000	0.13242	0.089000	0.17243	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-2.920896	1	0.170000	NM_032856			79	79		488	480	1		1	1		0	0	134	0		1	9.931907e-01	0	18	0	31	0	79	488
ZNF592	9640	broad.mit.edu	37	15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000560079.2	+	4	1226	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	313					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)			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)			GATCTCTCAGGGCCCACTAAA	0.537																																						ENST00000560079.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(937-939)gGg>gTg		zinc finger protein 592							61.0	69.0	67.0					15																	85326844		2203	4299	6502	SO:0001583	missense	9640	0	0					g.chr15:85326844G>T	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.938G>T	chr15.hg19:g.85326844G>T	ENSP00000452877:p.Gly313Val	0					ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	p.G313V	NM_014630.2	NP_055445.2	0	1	1	1.986442	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	4	1226	+			Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	1	1	hg19	c.938G>T	CCDS32317.1	1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023302	0.19433	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.65	3.78	0.43462	5.65	3.78	0.43462	.	0.236852	0.42682	D	0.000680	T	0.00412	0.0013	N	0.12182	0.205	0.53688	D	0.999975	P	0.42518	0.782	B	0.36378	0.223	D	0.85856	0.1407	10	0.37606	T	0.19	-30.6874	9.883	0.41245	0.1648:0.0:0.8352:0.0	.	313	Q92610	ZN592_HUMAN	V	313	ENSP00000299927:G313V	ENSP00000299927:G313V	G	+	2	0	0	ZNF592	83127848	83127848	0.731000	0.28111	1.000000	0.80357	0.942000	0.58702	1.042000	0.30303	1.393000	0.46605	0.655000	0.94253	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-3.099830	1	0.170000	NM_014630			89	88		430	419	1		1	1		0	0	123	0		1	9.999980e-01	0	18	0	74	0	89	430
ZNF592	9640	broad.mit.edu	37	15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000560079.2	+	8	3082	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	932					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)			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)			GTCTTCAGCGGACACATCCTC	0.622																																						ENST00000560079.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2794-2796)Gac>Tac		zinc finger protein 592							43.0	45.0	44.0					15																	85341876		2203	4299	6502	SO:0001583	missense	9640	0	0					g.chr15:85341876G>T	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.2794G>T	chr15.hg19:g.85341876G>T	ENSP00000452877:p.Asp932Tyr	0					ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	p.D932Y	NM_014630.2	NP_055445.2	0	1	1	1.986442	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	8	3082	+			Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	1	1	hg19	c.2794G>T	CCDS32317.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092952	0.36952	.	.	ENSG00000166716	ENST00000299927	T	0.00622	6.16	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.330880	0.31721	N	0.007167	T	0.01627	0.0052	L	0.32530	0.975	0.37890	D	0.930687	D	0.63880	0.993	P	0.59487	0.858	T	0.73294	-0.4028	10	0.59425	D	0.04	-27.3243	15.2915	0.73870	0.0:0.0:1.0:0.0	.	932	Q92610	ZN592_HUMAN	Y	932	ENSP00000299927:D932Y	ENSP00000299927:D932Y	D	+	1	0	0	ZNF592	83142880	83142880	0.996000	0.38824	0.621000	0.29145	0.235000	0.25334	5.113000	0.64640	2.439000	0.82584	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_014630			48	48		214	211	1		1	1		0	0	62	0		1	9.999969e-01	0	16	0	72	0	48	214
ALPK3	57538	broad.mit.edu	37	15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1267					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			TGGGGTCCTGGTCCCAGCTCC	0.682																																						ENST00000258888.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999892	0.990000	1.000000																										0				81						c.(3799-3801)gGt>gAt		alpha-kinase 3							19.0	15.0	16.0					15																	85401163		2200	4290	6490	SO:0001583	missense	57538	1	121192	26				g.chr15:85401163G>A	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.3800G>A	chr15.hg19:g.85401163G>A	ENSP00000258888:p.Gly1267Asp	0						p.G1267D	NM_020778.4	NP_065829.3	0	1	1	1.986442	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	6	3967	+			Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	1	1	hg19	c.3800G>A	CCDS10333.1	1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896135	0.17686	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	4.87	-0.919	0.10478	4.87	-0.919	0.10478	.	1.130040	0.06420	N	0.722229	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.35051	-0.9804	10	0.07644	T	0.81	-1.6914	1.0785	0.01638	0.1812:0.1478:0.3685:0.3026	.	1267	Q96L96	ALPK3_HUMAN	D	1267	ENSP00000258888:G1267D	ENSP00000258888:G1267D	G	+	2	0	0	ALPK3	83202167	83202167	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-0.367000	0.07553	0.107000	0.17824	0.563000	0.77884	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000	NM_020778			20	20		88	87	1		1	0		0	0	19	0		9.999975e-01	3.783784e-02	0	0	0	2	0	20	88
ALPK3	57538	broad.mit.edu	37	15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1736	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			CTGTTCTCGGGAATGGGGCTG	0.547																																						ENST00000258888.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(5206-5208)Gaa>Aaa		alpha-kinase 3							110.0	96.0	101.0					15																	85407773		2203	4299	6502	SO:0001583	missense	57538	5	121412	41				g.chr15:85407773G>A	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.5206G>A	chr15.hg19:g.85407773G>A	ENSP00000258888:p.Glu1736Lys	0						p.E1736K	NM_020778.4	NP_065829.3	0	1	1	1.986442	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	12	5373	+			Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	1	1	hg19	c.5206G>A	CCDS10333.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678367	0.88542	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	5.62	4.69	0.59074	5.62	4.69	0.59074	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.642960	0.15699	N	0.249015	T	0.09247	0.0228	N	0.22421	0.69	0.28334	N	0.921641	B;P	0.40534	0.437;0.72	B;P	0.47118	0.257;0.538	T	0.08126	-1.0737	10	0.72032	D	0.01	-1.4623	13.9844	0.64324	0.0:0.1588:0.8412:0.0	.	37;1736	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1736	ENSP00000258888:E1736K	ENSP00000258888:E1736K	E	+	1	0	0	ALPK3	83208777	83208777	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	3.720000	0.54933	1.335000	0.45486	0.563000	0.77884	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_020778			80	78		367	357	1		1	0		0	0	101	0		1	4.996658e-01	0	0	0	9	0	80	367
SLC28A1	9154	broad.mit.edu	37	15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000286749.3	+	6	626	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	179					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)			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)	CCTGAGCAACTGGTGTCCTTC	0.587																																						ENST00000286749.3	0.490000	0.170000	4.000000e-01	2.300000e-01	0.300000	0.320281	0.300000	0.290000																										0				41						c.(535-537)cTg>cGg		solute carrier family 28 (concentrative nucleoside transporter), member 1	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)						179.0	149.0	159.0					15																	85447402		2203	4299	6502	SO:0001583	missense	9154	0	0					g.chr15:85447402T>G	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.536T>G	chr15.hg19:g.85447402T>G	ENSP00000286749:p.Leu179Arg	0					SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R	p.L179R			0	1	1	1.986442	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	6	626	+			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	1	1	hg19	c.536T>G	CCDS10334.1	0	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953784	0.34471	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.38	3.26	0.37387	4.38	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.993;1.0	T	0.53208	-0.8471	10	0.87932	D	0	-0.008	6.4798	0.22057	0.0:0.1088:0.0:0.8912	.	179;179;179;101;179	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	179;179;179;179;179;101	ENSP00000440546:L179R;ENSP00000443752:L179R;ENSP00000444700:L179R;ENSP00000286749:L179R;ENSP00000378074:L179R;ENSP00000443764:L101R	ENSP00000286749:L179R	L	+	2	0	0	SLC28A1	83248406	83248406	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.495000	0.66912	0.753000	0.32945	-0.256000	0.11100	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-11.568080	1	0.170000				13	12		492	482	0		1			0	0	78	0		9.994717e-01	0	0	0	0	0	0	13	492
SLC28A1	9154	broad.mit.edu	37	15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000286749.3	+	14	1634	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	515					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)			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)	CTGGCAGGGGCCGAGGAGTGG	0.617																																						ENST00000286749.3	0.630000	0.310000	5.500000e-01	3.700000e-01	0.450000	0.467314	0.450000	0.450000																										0				41						c.(1543-1545)gCc>gTc		solute carrier family 28 (concentrative nucleoside transporter), member 1	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)						107.0	102.0	104.0					15																	85478712		2203	4299	6502	SO:0001583	missense	9154	0	0					g.chr15:85478712C>T	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.1544C>T	chr15.hg19:g.85478712C>T	ENSP00000286749:p.Ala515Val	0					RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V	p.A515V			0	1	1	1.986442	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	14	1634	+			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	1	1	hg19	c.1544C>T	CCDS10334.1	0	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902119	0.02453	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01933	4.55;4.66;4.69;4.69	5.19	-7.83	0.01201	5.19	-7.83	0.01201	Na dependent nucleoside transporter, C-terminal (1);	1.306430	0.04674	N	0.411195	T	0.01189	0.0039	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.47749	-0.9093	10	0.15952	T	0.53	-16.176	15.5491	0.76133	0.0:0.3386:0.0:0.6614	.	515;515;515	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	515	ENSP00000440546:A515V;ENSP00000444700:A515V;ENSP00000286749:A515V;ENSP00000378074:A515V	ENSP00000286749:A515V	A	+	2	0	0	SLC28A1	83279716	83279716	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.457000	0.06745	-1.555000	0.01697	-1.360000	0.01215	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-4.046775	1	0.170000				29	28		716	703	0		1			0	0	115	0		1	0	0	0	0	0	0	29	716
SLC28A1	9154	broad.mit.edu	37	15	85488368	85488368	+	Silent	SNP	G	G	A	rs376019418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000286749.3	+	18	1977	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000394573.1_Silent_p.E629E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	629					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)			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)	TCAATCCAGAGTTCAGCCCAG	0.557																																						ENST00000286749.3	1.000000	0.700000	1	8.600000e-01	0.990000	0.951735	0.990000	1.000000																										0				41						c.(1885-1887)gaG>gaA		solute carrier family 28 (concentrative nucleoside transporter), member 1	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	G		1,4405	2.1+/-5.4	0,1,2202	145.0	127.0	133.0		1887	1.2	0.0	15		133	0,8598		0,0,4299	no	coding-synonymous	SLC28A1	NM_004213.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		629/650	85488368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9154	0	0					g.chr15:85488368G>A	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.1887G>A	chr15.hg19:g.85488368G>A		0					SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Silent_p.E629E|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000537624.1_Intron	p.E629E			0	1	1	1.986442	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	18	1977	+			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	1	1	hg19	c.1887G>A	CCDS10334.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				24	24		242	234	0		1			0	0	71	0		9.999996e-01	0	0	0	0	0	0	24	242
PDE8A	5151	broad.mit.edu	37	15	85610412	85610412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000394553.1_Silent_p.Q137Q|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	137					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATCCTCGACAGCTGGATGCAG	0.458																																						ENST00000310298.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(409-411)caG>caA		phosphodiesterase 8A	Caffeine(DB00201)|Ketotifen(DB00920)						109.0	92.0	98.0					15																	85610412		2203	4299	6502	SO:0001819	synonymous_variant	5151	1	121408	34				g.chr15:85610412G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.411G>A	chr15.hg19:g.85610412G>A		0					PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Silent_p.Q137Q	p.Q137Q			0	1	1	1.986442	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)	4	663	+	Colorectal(223;0.227)		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	1	1	hg19	c.411G>A	CCDS10336.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_002605			58	56		294	290	0		1	1		0	0	78	0		1	9.988581e-01	0	14	0	40	0	58	294
PDE8A	5151	broad.mit.edu	37	15	85652283	85652283	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000394553.1_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGTTTCTACAGATAATCAGAC	0.348																																						ENST00000310298.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				25						c.e13-1		phosphodiesterase 8A	Caffeine(DB00201)|Ketotifen(DB00920)						95.0	94.0	95.0					15																	85652283		2203	4299	6502	SO:0001630	splice_region_variant	5151	0	0					g.chr15:85652283G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1037-1G>A	chr15.hg19:g.85652283G>A		0					PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site				0	1	1	1.986442	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)	13	1288	+	Colorectal(223;0.227)		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Splice_Site	SNP	ENST00000310298.4	1	1	hg19		CCDS10336.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457121	0.63401	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6931	0.62559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PDE8A	83453287	83453287	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.295000	0.89937	2.074000	0.62210	0.514000	0.50259	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_002605	Intron		47	47		244	238	1		1			0	0	77	0		1	0	0	0	0	0	0	47	244
PDE8A	5151	broad.mit.edu	37	15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	454					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGATGGTTTGCGAAGACTATC	0.358																																						ENST00000310298.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998159	0.990000	1.000000																										0				25						c.(1360-1362)Cga>Tga		phosphodiesterase 8A	Caffeine(DB00201)|Ketotifen(DB00920)						133.0	129.0	130.0					15																	85658679		2202	4299	6501	SO:0001587	stop_gained	5151	0	0					g.chr15:85658679C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1360C>T	chr15.hg19:g.85658679C>T	ENSP00000311453:p.Arg454*	0					PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*	p.R454*			0	1	1	1.986442	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)	16	1612	+	Colorectal(223;0.227)		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Nonsense_Mutation	SNP	ENST00000310298.4	0	1	hg19	c.1360C>T	CCDS10336.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.550329	0.98352	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	5.66	2.66	0.31614	5.66	2.66	0.31614	.	0.068745	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5494	0.45079	0.1405:0.5885:0.271:0.0	.	.	.	.	X	454;454;408	.	ENSP00000311453:R454X	R	+	1	2	2	PDE8A	83459683	83459683	0.953000	0.32496	0.686000	0.30086	0.798000	0.45092	2.016000	0.40971	0.288000	0.22398	-0.176000	0.13171	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-11.690220	1	0.170000	NM_002605			21	21		135	133	1		1	1		0	0	25	0		9.999983e-01	9.328948e-01	0	2	0	30	0	21	135
AKAP13	11214	broad.mit.edu	37	15	86076846	86076846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86076846G>T	ENST00000394518.2	+	4	308	c.213G>T	c.(211-213)caG>caT	p.Q71H	AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAAGGTGCAGCTCTGTGCTT	0.468																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	1.000000	0.510000	9.000000e-01	6.200000e-01	0.750000	0.764604	0.750000	1.000000																										0				98						c.(211-213)caG>caT		A kinase (PRKA) anchor protein 13							142.0	127.0	132.0					15																	86076846		2202	4299	6501	SO:0001583	missense	11214	0	0					g.chr15:86076846G>T	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.213G>T	chr15.hg19:g.86076846G>T	ENSP00000378026:p.Gln71His	0					AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H	p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	0	1	1	1.986442	Q12802	AKP13_HUMAN		4	308	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	0	1	hg19	c.213G>T	CCDS32319.1	0	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460328	0.63401	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59502	0.26;0.26	5.67	3.73	0.42828	5.67	3.73	0.42828	.	.	.	.	.	T	0.42040	0.1185	N	0.08118	0	0.80722	D	1	P;P;D	0.53885	0.85;0.907;0.963	B;B;P	0.50136	0.258;0.443;0.632	T	0.39702	-0.9601	9	0.62326	D	0.03	.	6.3501	0.21370	0.1609:0.2851:0.554:0.0	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	H	71;71;70;70	ENSP00000354718:Q71H;ENSP00000378026:Q71H	ENSP00000354718:Q71H	Q	+	3	2	2	AKAP13	83877850	83877850	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.880000	0.28159	0.798000	0.33994	0.655000	0.94253	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	1		21	3	2	1		1	1	63		63	63	1	2.060000	-7.354938	1	0.170000	NM_007200			28	28		407	401	0		1	1		1	0	63	0		8.683981e-01	2.494034e-01	0	3	0	23	0	28	407
AKAP13	11214	broad.mit.edu	37	15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	547					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGTAACAAACCTGCTGAG	0.488																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				98						c.(1639-1641)aAa>aGa		A kinase (PRKA) anchor protein 13							88.0	94.0	92.0					15																	86122939		2202	4299	6501	SO:0001583	missense	11214	0	0					g.chr15:86122939A>G	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.1640A>G	chr15.hg19:g.86122939A>G	ENSP00000378026:p.Lys547Arg	0					AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	p.K547R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	0	1	1	1.986442	Q12802	AKP13_HUMAN		7	1735	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	1	1	hg19	c.1640A>G	CCDS32319.1	1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567026	0.65651	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.88;2.88	5.87	-8.0	0.01126	5.87	-8.0	0.01126	.	.	.	.	.	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.41945	-0.9480	9	0.21540	T	0.41	.	5.7191	0.17976	0.2046:0.5528:0.1386:0.1039	.	547;547	Q12802;Q12802-2	AKP13_HUMAN;.	R	547;547;546;546	ENSP00000354718:K547R;ENSP00000378026:K547R	ENSP00000354718:K547R	K	+	2	0	0	AKAP13	83923943	83923943	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-2.079000	0.01369	-1.133000	0.02903	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	1	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-20.000000	1	0.170000	NM_007200			112	111		504	493	1		1	1		0	0	144	0		1	9.878110e-01	0	4	0	29	0	112	504
AKAP13	11214	broad.mit.edu	37	15	86124899	86124899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.E1200E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1200					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGACATGGAGCTCTCAGCCC	0.587																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	0.650000	0.160000	5.000000e-01	2.400000e-01	0.350000	0.380741	0.350000	0.340000																										0				98						c.(3598-3600)gaG>gaA		A kinase (PRKA) anchor protein 13							57.0	55.0	55.0					15																	86124899		2202	4299	6501	SO:0001819	synonymous_variant	11214	0	0					g.chr15:86124899G>A	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.3600G>A	chr15.hg19:g.86124899G>A		0					AKAP13_ENST00000361243.2_Silent_p.E1200E|RP11-815J21.2_ENST00000561409.1_RNA	p.E1200E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	0	1	1	1.986442	Q12802	AKP13_HUMAN		7	3695	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	1	1	hg19	c.3600G>A	CCDS32319.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-8.839191	1	0.170000	NM_007200			7	7		232	231	1		1	1		0	0	57	0		9.807682e-01	6.800191e-01	0	7	0	69	0	7	232
AKAP13	11214	broad.mit.edu	37	15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1267					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGCCGCTGGAGCACTGCTT	0.552																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				98						c.(3799-3801)gGa>gAa		A kinase (PRKA) anchor protein 13							58.0	55.0	56.0					15																	86125099		2202	4299	6501	SO:0001583	missense	11214	0	0					g.chr15:86125099G>A	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.3800G>A	chr15.hg19:g.86125099G>A	ENSP00000378026:p.Gly1267Glu	0					AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E|RP11-815J21.2_ENST00000561409.1_RNA	p.G1267E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	0	1	1	1.986442	Q12802	AKP13_HUMAN		7	3895	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	1	1	hg19	c.3800G>A	CCDS32319.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818539	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13538	2.58;2.58	5.53	1.48	0.22813	5.53	1.48	0.22813	.	.	.	.	.	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.24258	0.1;0.05	B;B	0.26770	0.033;0.073	T	0.32481	-0.9905	9	0.38643	T	0.18	.	4.7716	0.13158	0.2482:0.1669:0.5849:0.0	.	1267;1267	Q12802;Q12802-2	AKP13_HUMAN;.	E	1267;1267;1266;1266	ENSP00000354718:G1267E;ENSP00000378026:G1267E	ENSP00000354718:G1267E	G	+	2	0	0	AKAP13	83926103	83926103	0.394000	0.25246	0.009000	0.14445	0.004000	0.04260	0.557000	0.23454	0.652000	0.30806	0.655000	0.94253	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_007200			42	42		172	168	1		1	1		0	0	34	0		1	9.999995e-01	0	23	0	73	0	42	172
AKAP13	11214	broad.mit.edu	37	15	86225399	86225399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86225399C>A	ENST00000394518.2	+	15	5207	c.5112C>A	c.(5110-5112)ccC>ccA	p.P1704P	AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.P1708P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1704					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCACGGCCCTTCCACAGTA	0.333																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2	0.570000	0.150000	4.500000e-01	2.200000e-01	0.320000	0.344425	0.320000	0.310000																										0				98						c.(5110-5112)ccC>ccA		A kinase (PRKA) anchor protein 13							110.0	102.0	105.0					15																	86225399		2202	4299	6501	SO:0001819	synonymous_variant	11214	0	0					g.chr15:86225399C>A	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.5112C>A	chr15.hg19:g.86225399C>A		0					AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	p.P1704P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	0	1	1	1.986442	Q12802	AKP13_HUMAN		15	5207	+			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	0	1	hg19	c.5112C>A	CCDS32319.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-3.059424	1	0.170000	NM_007200			8	8		291	281	0		1	0		0	0	61	0		9.880808e-01	9.197419e-01	0	0	0	163	0	8	291
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507																																						ENST00000441037.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999876	0.990000	1.000000																										0				62						c.(715-717)ccG>ccA		ATP/GTP binding protein-like 1							74.0	75.0	75.0					15																	86800203		2039	4197	6236	SO:0001819	synonymous_variant	123624	2	120940	37				g.chr15:86800203G>A	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.717G>A	chr15.hg19:g.86800203G>A		0					AGBL1_ENST00000421325.2_Silent_p.P239P	p.P239P	NM_152336.2	NP_689549.2	0	1	1	1.986442	Q96MI9	CBPC4_HUMAN		7	812	+			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	1	1	hg19	c.717G>A	CCDS58398.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.130160	1	0.170000	NM_152336			25	25		131	128	1		1			0	0	36	0		9.999999e-01	0	0	0	0	0	0	25	131
AGBL1	123624	broad.mit.edu	37	15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A	rs376573682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	650					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507																																						ENST00000441037.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1948-1950)cGc>cAc		ATP/GTP binding protein-like 1		G	HIS/ARG	1,4099		0,1,2049	94.0	96.0	95.0		1949	0.1	0.0	15		95	0,8384		0,0,4192	no	missense	AGBL1	NM_152336.2	29	0,1,6241	AA,AG,GG		0.0,0.0244,0.0080	benign	650/1067	86822881	1,12483	2050	4192	6242	SO:0001583	missense	123624	6	120988	40				g.chr15:86822881G>A	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.1949G>A	chr15.hg19:g.86822881G>A	ENSP00000413001:p.Arg650His	0					AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H	p.R650H	NM_152336.2	NP_689549.2	0	1	1	1.986442	Q96MI9	CBPC4_HUMAN		15	2044	+			A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	0	1	hg19	c.1949G>A	CCDS58398.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561146	0.27915	2.44E-4	0.0	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11277	2.8;2.79	5.3	0.0935	0.14477	5.3	0.0935	0.14477	.	0.605985	0.17360	N	0.177067	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.01	B;B;B	0.15484	0.009;0.013;0.003	T	0.23904	-1.0175	10	0.42905	T	0.14	-0.9957	3.6769	0.08295	0.1411:0.3666:0.3668:0.1256	.	349;381;650	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	679;650;381	ENSP00000397173:R650H;ENSP00000373949:R381H	ENSP00000373949:R381H	R	+	2	0	0	AGBL1	84623885	84623885	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.615000	0.24329	-0.115000	0.11915	-0.140000	0.14226	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	0		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000	NM_152336			72	69		321	313	0		1			0	0	81	0		1	0	0	0	0	0	0	72	321
AGBL1	123624	broad.mit.edu	37	15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A	rs369790993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1021					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532																																						ENST00000441037.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999078	0.990000	1.000000																										0				62						c.(3061-3063)Gct>Act		ATP/GTP binding protein-like 1		G	THR/ALA	0,3976		0,0,1988	40.0	40.0	40.0		3061	-0.5	0.0	15		40	2,8310		0,2,4154	no	missense	AGBL1	NM_152336.2	58	0,2,6142	AA,AG,GG		0.0241,0.0,0.0163	benign	1021/1067	87217645	2,12286	1988	4156	6144	SO:0001583	missense	123624	5	120862	33				g.chr15:87217645G>A	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.3061G>A	chr15.hg19:g.87217645G>A	ENSP00000413001:p.Ala1021Thr	0					AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T|AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T	p.A1021T	NM_152336.2	NP_689549.2	0	1	1	1.986442	Q96MI9	CBPC4_HUMAN		22	3156	+			A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	1	1	hg19	c.3061G>A	CCDS58398.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890460	0.33348	0.0	2.41E-4	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10099	2.92;2.91	5.63	-0.477	0.12097	5.63	-0.477	0.12097	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45101	-0.9284	9	0.16420	T	0.52	-0.0733	3.0314	0.06108	0.3053:0.0:0.3541:0.3407	.	1021	Q96MI9	CBPC4_HUMAN	T	1021;752	ENSP00000397173:A1021T;ENSP00000373949:A752T	ENSP00000373949:A752T	A	+	1	0	0	AGBL1	85018649	85018649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.408000	0.07169	0.301000	0.22738	-0.222000	0.12452	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_152336			17	17		90	87	1		1			0	0	43	0		9.999733e-01	0	0	0	0	0	0	17	90
AGBL1	123624	broad.mit.edu	37	15	87531283	87531283	+	Missense_Mutation	SNP	A	A	G	rs114992033	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87531283A>G	ENST00000441037.2	+	23	3244	c.3149A>G	c.(3148-3150)aAc>aGc	p.N1050S	AGBL1_ENST00000389298.3_Missense_Mutation_p.N781S|AGBL1_ENST00000421325.2_Missense_Mutation_p.N1050S|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1050			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)			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						gccattacaaactttttcaag	0.403													A|||	14	0.00279553	0.0068	0.0029	5008	,	,		16989	0.0		0.001	False		,,,				2504	0.002					ENST00000441037.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3148-3150)aAc>aGc		ATP/GTP binding protein-like 1		A	SER/ASN	9,3711		0,9,1851	273.0	255.0	260.0		3149	1.6	0.0	15	dbSNP_132	260	35,8139		0,35,4052	yes	missense	AGBL1	NM_152336.2	46	0,44,5903	GG,GA,AA		0.4282,0.2419,0.3699	benign	1050/1067	87531283	44,11850	1860	4087	5947	SO:0001583	missense	123624	457	120814	63				g.chr15:87531283A>G	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.3149A>G	chr15.hg19:g.87531283A>G	ENSP00000413001:p.Asn1050Ser	0					AGBL1_ENST00000421325.2_Missense_Mutation_p.N1050S|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.N781S	p.N1050S	NM_152336.2	NP_689549.2	0	1	1	1.986442	Q96MI9	CBPC4_HUMAN		23	3244	+			A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	1	0	hg19	c.3149A>G	CCDS58398.1	1	12	0.005494505494505495	8	0.016260162601626018	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	A	3.575	-0.086871	0.07097	0.002419	0.004282	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.09911	2.95;2.93	1.57	1.57	0.23409	1.57	1.57	0.23409	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.34675	-0.9819	9	0.87932	D	0	.	5.2126	0.15325	1.0:0.0:0.0:0.0	.	1050	Q96MI9	CBPC4_HUMAN	S	1050;781	ENSP00000397173:N1050S;ENSP00000373949:N781S	ENSP00000373949:N781S	N	+	2	0	0	AGBL1	85332287	85332287	0.002000	0.14202	0.001000	0.08648	0.161000	0.22273	1.112000	0.31172	0.957000	0.37930	0.421000	0.28195	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	0	0	1		2	2	2	0		0	0	200		200	198	1	2.060000	-2.848873	1	0.170000	NM_152336			174	169		760	748	1		1			0	0	200	0		1	0	0	0	0	0	0	174	760
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000360948.2	-	19	2532	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000394480.2_Missense_Mutation_p.R777W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		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)			ACTCGGGGCCGCTCCAAAACA	0.527			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000360948.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000				Dom	yes			Dom	yes		15	15q25	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""				"""E, M"""	E, M	ETV6		congenital fibrosarcoma, Secretory breast 	ETV6/NTRK3(238)	0				119						c.(2371-2373)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 3							78.0	67.0	70.0					15																	88420315		2201	4299	6500	SO:0001583	missense	4916	1	121412	30				g.chr15:88420315G>A	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.2371C>T	chr15.hg19:g.88420315G>A	ENSP00000354207:p.Arg791Trp	0	TSP Lung(13;0.10)				NTRK3_ENST00000394480.2_Missense_Mutation_p.R777W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W	p.R791W	NM_001012338.2	NP_001012338.1	0	1	1	1.986442	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	19	2532	-			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	1	1	hg19	c.2371C>T	CCDS32322.1	1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873862	0.72180	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.58	2.28	0.28536	5.58	2.28	0.28536	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	0.87478	0.6187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87664	0.2536	10	0.87932	D	0	.	13.2102	0.59819	0.0:0.0:0.2524:0.7476	.	769;777;791	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	777;791;783;777	ENSP00000377990:R777W;ENSP00000354207:R791W;ENSP00000350356:R783W;ENSP00000347397:R777W	ENSP00000347397:R777W	R	-	1	2	2	NTRK3	86221319	86221319	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	0.025000	0.13577	0.645000	0.30675	0.561000	0.74099	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.049021	1	0.170000				39	39		203	199	1		1	0		0	0	45	0		1	7.237875e-02	0	0	0	3	0	39	203
NTRK3	4916	broad.mit.edu	37	15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	rs139392904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000360948.2	-	16	2094	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		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)			TTGGCCTGGCGTGGCTGTCCA	0.587			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18909	0.001		0.0	False		,,,				2504	0.0					ENST00000360948.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000				Dom	yes			Dom	yes		15	15q25	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""				"""E, M"""	E, M	ETV6		congenital fibrosarcoma, Secretory breast 	ETV6/NTRK3(238)	0				119						c.(1933-1935)Cgc>Tgc		neurotrophic tyrosine kinase, receptor, type 3		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	56.0	51.0	53.0		1933,1933	5.2	1.0	15	dbSNP_134	53	9,8589	6.4+/-24.3	0,9,4290	yes	missense,missense	NTRK3	NM_001012338.2,NM_002530.3	180,180	0,10,6490	AA,AG,GG		0.1047,0.0227,0.0769	probably-damaging,probably-damaging	645/840,645/826	88472622	10,12990	2201	4299	6500	SO:0001583	missense	4916	79	121412	48				g.chr15:88472622G>A	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.1933C>T	chr15.hg19:g.88472622G>A	ENSP00000354207:p.Arg645Cys	0	TSP Lung(13;0.10)				NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C	p.R645C	NM_001012338.2	NP_001012338.1	0	1	1	1.986442	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	16	2094	-			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	1	1	hg19	c.1933C>T	CCDS32322.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255390	0.80135	2.27E-4	0.001047	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.16	5.16	0.70880	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059478	0.64402	D	0.000001	D	0.91981	0.7460	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.992;0.994;0.997	P;P;P;P;P	0.57548	0.684;0.684;0.684;0.556;0.823	D	0.92621	0.6108	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	547;637;637;645;645	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	645;645;637;645;547	ENSP00000377990:R645C;ENSP00000354207:R645C;ENSP00000350356:R637C;ENSP00000347397:R645C;ENSP00000437773:R547C	ENSP00000347397:R645C	R	-	1	0	0	NTRK3	86273626	86273626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.409000	0.81822	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.459035	1	0.170000				26	26		117	117	1		1			0	0	39	0		1	0	0	0	0	0	0	26	117
NTRK3	4916	broad.mit.edu	37	15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000360948.2	-	12	1464	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435					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)		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)			AGTCCAACTGCTATGGATACC	0.438			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000360948.2	1.000000	0.710000	1	9.000000e-01	0.990000	0.964873	0.990000	1.000000				Dom	yes			Dom	yes		15	15q25	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""				"""E, M"""	E, M	ETV6		congenital fibrosarcoma, Secretory breast 	ETV6/NTRK3(238)	0				119						c.(1303-1305)Gca>Tca		neurotrophic tyrosine kinase, receptor, type 3							105.0	91.0	96.0					15																	88669595		2201	4299	6500	SO:0001583	missense	4916	0	0					g.chr15:88669595C>A	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.1303G>T	chr15.hg19:g.88669595C>A	ENSP00000354207:p.Ala435Ser	0	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S	p.A435S	NM_001012338.2	NP_001012338.1	0	1	1	1.986442	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	12	1464	-			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	1	1	hg19	c.1303G>T	CCDS32322.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687306	0.68157	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74526	-0.84;-0.79;-0.85;-0.84;-0.73;-0.1;-0.1	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.71206	2.165	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.997;0.947;1.0;0.999;0.947	D;D;P;D;D;P	0.81914	0.994;0.985;0.677;0.994;0.995;0.677	D	0.86621	0.1879	10	0.66056	D	0.02	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	435;435;427;435;337;435;435	ENSP00000377990:A435S;ENSP00000354207:A435S;ENSP00000350356:A427S;ENSP00000347397:A435S;ENSP00000437773:A337S;ENSP00000444673:A435S;ENSP00000318328:A435S	ENSP00000318328:A435S	A	-	1	0	0	NTRK3	86470599	86470599	1.000000	0.71417	0.932000	0.37286	0.122000	0.20287	7.543000	0.82106	2.652000	0.90054	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-8.747463	1	0.170000				18	17		166	163	0		1	0		0	0	46	0		9.999825e-01	1.080897e-02	0	0	0	2	0	18	166
NTRK3	4916	broad.mit.edu	37	15	88799241	88799241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000360948.2	-	2	305	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000394480.2_Silent_p.P48P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	48					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)		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)			TCCCATCGTCCGGCCGCCGGC	0.547			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000360948.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q25	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""				"""E, M"""	E, M	ETV6		congenital fibrosarcoma, Secretory breast 	ETV6/NTRK3(238)	0				119						c.(142-144)ccG>ccA		neurotrophic tyrosine kinase, receptor, type 3							268.0	220.0	237.0					15																	88799241		2201	4299	6500	SO:0001819	synonymous_variant	4916	0	0					g.chr15:88799241C>T	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.144G>A	chr15.hg19:g.88799241C>T		0	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000394480.2_Silent_p.P48P|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P	p.P48P	NM_001012338.2	NP_001012338.1	0	1	1	1.986442	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	2	305	-			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	1	1	hg19	c.144G>A	CCDS32322.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-2.775329	1	0.170000				71	71		413	410	0		1			0	0	85	0		1	0	0	0	0	0	0	71	413
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517																																						ENST00000325844.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R118W(1)	large_intestine(1)	3						c.(352-354)Cgg>Tgg		mitochondrial ribosomal protein S11		C	TRP/ARG,TRP/ARG	3,4399	4.2+/-10.8	0,3,2198	120.0	103.0	109.0		352,253	4.3	1.0	15	dbSNP_134	109	0,8598		0,0,4299	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	118/195,85/162	89018411	3,12997	2201	4299	6500	SO:0001583	missense	64963	14	121412	43				g.chr15:89018411C>T	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.352C>T	chr15.hg19:g.89018411C>T	ENSP00000317376:p.Arg118Trp	0					MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	p.R118W	NM_022839.3	NP_073750.2	0	1	1	1.986442	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)	4	617	+	Lung NSC(78;0.203)		B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	1	1	hg19	c.352C>T	CCDS10342.1	1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	2	MRPS11	86819415	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.971667	1	0.170000	NM_022839			57	55		315	309	1		1	1		0	0	60	0		1	1	0	97	0	154	0	57	315
DET1	55070	broad.mit.edu	37	15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000268148.8	-	2	1125	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DET1_ENST00000564406.1_Missense_Mutation_p.R338Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	327						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493																																						ENST00000268148.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(979-981)cGg>cAg		de-etiolated homolog 1 (Arabidopsis)							43.0	46.0	45.0					15																	89073957		1932	4124	6056	SO:0001583	missense	55070	1	120848	26				g.chr15:89073957C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.980G>A	chr15.hg19:g.89073957C>T	ENSP00000268148:p.Arg327Gln	0					DET1_ENST00000564406.1_Missense_Mutation_p.R338Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	p.R327Q	NM_001144074.1	NP_001137546.1	0	1	1	1.986442	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)	2	1125	-	Lung NSC(78;0.105)|all_lung(78;0.182)		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	1	1	hg19	c.980G>A	CCDS45344.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991526	0.35131	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	4.71	0.59529	5.65	4.71	0.59529	.	0.048971	0.85682	N	0.000000	T	0.57007	0.2024	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.19817	0.039;0.039	B;B	0.19946	0.016;0.027	T	0.53669	-0.8406	9	0.13470	T	0.59	-28.4679	15.0509	0.71867	0.1428:0.8572:0.0:0.0	.	327;338	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	338;327	.	ENSP00000268148:R327Q	R	-	2	0	0	DET1	86874961	86874961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.277000	0.58939	1.584000	0.49913	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.783197	1	0.170000	NM_017996			35	34		123	123	1		1	0		0	0	55	0		1	9.581094e-01	0	1	0	20	0	35	123
AEN	64782	broad.mit.edu	37	15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	148	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602																																						ENST00000332810.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(442-444)aGg>aAg		apoptosis enhancing nuclease							78.0	74.0	75.0					15																	89169883		2200	4299	6499	SO:0001583	missense	64782	0	0					g.chr15:89169883G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.443G>A	chr15.hg19:g.89169883G>A	ENSP00000331944:p.Arg148Lys	0					AEN_ENST00000379231.3_Missense_Mutation_p.R148K	p.R148K	NM_022767.3	NP_073604.3	0	1	1	1.986442	Q8WTP8	AEN_HUMAN		2	594	+			C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	1	1	hg19	c.443G>A	CCDS10344.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741046	0.30865	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27890	1.64;1.64	5.32	1.26	0.21427	5.32	1.26	0.21427	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.858239	0.10110	N	0.714869	T	0.09468	0.0233	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.16289	0.009;0.015	T	0.37056	-0.9722	10	0.09590	T	0.72	-11.5789	3.8604	0.08993	0.2922:0.0:0.4457:0.2621	.	148;148	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	K	148	ENSP00000331944:R148K;ENSP00000368533:R148K	ENSP00000331944:R148K	R	+	2	0	0	AEN	86970887	86970887	0.986000	0.35501	0.946000	0.38457	0.965000	0.64279	1.355000	0.34068	-0.014000	0.14175	0.609000	0.83330	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.319004	1	0.170000	NM_022767			91	90		524	516	1		1	1		0	0	91	0		1	9.993034e-01	0	12	0	51	0	91	524
ACAN	176	broad.mit.edu	37	15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000561243.1	+	11	4973	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I			P16112	PGCA_HUMAN	aggrecan	1699	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)			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)			GGATTCCCAACTGTTTCCCTA	0.532																																						ENST00000561243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(4972-4974)aCt>aTt		aggrecan							144.0	145.0	144.0					15																	89400789		1953	4132	6085	SO:0001583	missense	176	0	0					g.chr15:89400789C>T	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.4973C>T	chr15.hg19:g.89400789C>T	ENSP00000453342:p.Thr1658Ile	0					ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I	p.T1658I			0	1	1	1.986442	P16112	PGCA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)	11	4973	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	1	1	hg19	c.4973C>T	CCDS53970.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956519	0.73902	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03607	4.13;3.87	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.33553	N	0.004785	T	0.22044	0.0531	M	0.82823	2.61	0.36779	D	0.884243	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01298	-1.1392	10	0.45353	T	0.12	-19.2149	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1658;1658	E7ENV9;E7EX88	.;.	I	1658;1658;1544	ENSP00000387356:T1658I;ENSP00000341615:T1658I	ENSP00000268134:T1544I	T	+	2	0	0	ACAN	87201793	87201793	0.992000	0.36948	0.973000	0.42090	0.998000	0.95712	3.920000	0.56446	2.775000	0.95449	0.655000	0.94253	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	0	0		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	NM_001135			118	117		586	577	1		1	0		0	0	150	0		1	2.860909e-02	0	0	0	2	0	118	586
ACAN	176	broad.mit.edu	37	15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000561243.1	+	11	5015	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D			P16112	PGCA_HUMAN	aggrecan	1726	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)			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)			GTGGTCACAGCCTCCACTGCA	0.537																																						ENST00000561243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(5014-5016)gCc>gAc		aggrecan							144.0	145.0	145.0					15																	89400831		1969	4150	6119	SO:0001583	missense	176	0	0					g.chr15:89400831C>A	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.5015C>A	chr15.hg19:g.89400831C>A	ENSP00000453342:p.Ala1672Asp	0					ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D	p.A1672D			0	1	1	1.986442	P16112	PGCA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)	11	5015	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	1	1	hg19	c.5015C>A	CCDS53970.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02606	4.47;4.23	5.86	4.94	0.65067	5.86	4.94	0.65067	.	0.532223	0.14184	N	0.335806	T	0.10637	0.0260	M	0.65975	2.015	0.09310	N	0.99999	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.24225	-1.0166	10	0.21014	T	0.42	-14.2096	8.8309	0.35082	0.149:0.7764:0.0:0.0746	.	1672;1672	E7ENV9;E7EX88	.;.	D	1672;1672;1558	ENSP00000387356:A1672D;ENSP00000341615:A1672D	ENSP00000268134:A1558D	A	+	2	0	0	ACAN	87201835	87201835	0.542000	0.26426	0.997000	0.53966	0.880000	0.50808	1.432000	0.34936	1.477000	0.48234	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	0		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_001135			114	113		610	601	1		1	0		0	0	175	0		1	3.070600e-01	0	0	0	7	0	114	610
ACAN	176	broad.mit.edu	37	15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000561243.1	+	11	6362	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I			P16112	PGCA_HUMAN	aggrecan	2006	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)			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)			GAGGCCAGCAGAGAAGATTCT	0.562																																						ENST00000561243.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				93						c.(6361-6363)aGa>aTa		aggrecan							51.0	53.0	53.0					15																	89402178		1931	4130	6061	SO:0001583	missense	176	0	0					g.chr15:89402178G>T	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.6362G>T	chr15.hg19:g.89402178G>T	ENSP00000453342:p.Arg2121Ile	0					ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I	p.R2121I			0	1	1	1.986442	P16112	PGCA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)	11	6362	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	1	1	hg19	c.6362G>T	CCDS53970.1	1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239075	0.10023	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.69;4.43	4.31	3.37	0.38596	4.31	3.37	0.38596	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.964;0.98	P;P	0.46275	0.51;0.51	T	0.54938	-0.8218	9	0.36615	T	0.2	-2.7329	9.1516	0.36967	0.0:0.1486:0.6761:0.1753	.	2121;2121	E7ENV9;E7EX88	.;.	I	2121;2121;2007	ENSP00000387356:R2121I;ENSP00000341615:R2121I	ENSP00000268134:R2007I	R	+	2	0	0	ACAN	87203182	87203182	0.062000	0.20869	0.042000	0.18584	0.015000	0.08874	1.400000	0.34577	0.900000	0.36469	-0.494000	0.04653	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.077929	1	0.170000	NM_001135			51	51		299	293	1		1	0		0	0	93	0		1	1.616653e-01	0	0	0	5	0	51	299
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000561243.1	+	12	6906	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C			P16112	PGCA_HUMAN	aggrecan	2187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				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)			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)			ACGTCATATGCCTGTGCCCCC	0.632																																						ENST00000561243.1	1.000000	0.850000	1	9.900000e-01	0.990000	0.991036	0.990000	1.000000																										0				93						c.(6904-6906)tgC>tgT		aggrecan							43.0	47.0	46.0					15																	89403630		2057	4176	6233	SO:0001819	synonymous_variant	176	1	120994	27				g.chr15:89403630C>T	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.6906C>T	chr15.hg19:g.89403630C>T		0					ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C	p.C2302C			0	1	1	1.986442	P16112	PGCA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)	12	6906	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	1	1	hg19	c.6906C>T	CCDS53970.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.999640	1	0.170000	NM_001135			15	15		106	106	1		1	0		0	0	33	0		9.999080e-01	4.836507e-02	0	0	0	3	0	15	106
HAPLN3	145864	broad.mit.edu	37	15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000359595.3	-	5	1118	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	302	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AACTTCCAGGCGGCAAAGAGC	0.632																																						ENST00000359595.3	0.540000	0.270000	4.700000e-01	3.300000e-01	0.390000	0.408917	0.390000	0.390000																										0				17						c.(904-906)Gcc>Acc		hyaluronan and proteoglycan link protein 3	Hyaluronan(DB08818)	C	THR/ALA	0,4400		0,0,2200	150.0	139.0	143.0		904	2.8	0.5	15	dbSNP_134	143	1,8597	1.2+/-3.3	0,1,4298	no	missense	HAPLN3	NM_178232.2	58	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/361	89421380	1,12997	2200	4299	6499	SO:0001583	missense	145864	2	121412	42				g.chr15:89421380C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.904G>A	chr15.hg19:g.89421380C>T	ENSP00000352606:p.Ala302Thr	0					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	p.A302T	NM_178232.2	NP_839946.1	0	1	1	1.986442	Q96S86	HPLN3_HUMAN		5	1118	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	1	1	hg19	c.904G>A	CCDS10346.1	0	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563356	0.86335	0.0	1.16E-4	ENSG00000140511	ENST00000359595	T	0.18502	2.21	4.7	2.76	0.32466	4.7	2.76	0.32466	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.92604	3.325	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48055	-0.9068	10	0.87932	D	0	-17.0017	8.2766	0.31877	0.1553:0.761:0.0:0.0837	.	302;302	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	302	ENSP00000352606:A302T	ENSP00000352606:A302T	A	-	1	0	0	HAPLN3	87222384	87222384	1.000000	0.71417	0.544000	0.28141	0.929000	0.56500	7.391000	0.79828	0.481000	0.27557	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	0	0	0		2	2	2	0		0	0	161		161	158	1	2.060000	-3.044896	1	0.170000	NM_178232			33	32		934	915	0		1	1		0	0	161	0		1	9.753351e-01	0	2	0	166	0	33	934
HAPLN3	145864	broad.mit.edu	37	15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000359595.3	-	5	1086	c.872C>T	c.(871-873)gCc>gTc	p.A291V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	291	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GGCGATCGTGGCATCATCTTC	0.647																																						ENST00000359595.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(871-873)gCc>gTc		hyaluronan and proteoglycan link protein 3	Hyaluronan(DB08818)						160.0	146.0	151.0					15																	89421412		2200	4299	6499	SO:0001583	missense	145864	0	0					g.chr15:89421412G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.872C>T	chr15.hg19:g.89421412G>A	ENSP00000352606:p.Ala291Val	0					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	p.A291V	NM_178232.2	NP_839946.1	0	1	1	1.986442	Q96S86	HPLN3_HUMAN		5	1086	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	1	1	hg19	c.872C>T	CCDS10346.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170122	0.57584	.	.	ENSG00000140511	ENST00000359595	T	0.47869	0.83	4.7	4.7	0.59300	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.181464	0.46758	D	0.000268	T	0.79209	0.4407	H	0.96604	3.85	0.44652	D	0.997635	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87004	0.2118	10	0.87932	D	0	-25.7978	16.5998	0.84810	0.0:0.0:1.0:0.0	.	291;291	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	291	ENSP00000352606:A291V	ENSP00000352606:A291V	A	-	2	0	0	HAPLN3	87222416	87222416	1.000000	0.71417	0.264000	0.24511	0.010000	0.07245	5.495000	0.66912	2.306000	0.77630	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	1	0	0		2	2	2	0		0	0	165		165	163	1	2.060000	-20.000000	1	0.170000	NM_178232			161	160		805	790	1		1	1		0	0	165	0		1	1	0	9	0	145	0	161	805
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GACACGCACACGCCGCGGGGA	0.657																																						ENST00000359595.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(247-249)cGt>cAt		hyaluronan and proteoglycan link protein 3	Hyaluronan(DB08818)						73.0	70.0	71.0					15																	89424833		2200	4299	6499	SO:0001583	missense	145864	0	0					g.chr15:89424833C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.248G>A	chr15.hg19:g.89424833C>T	ENSP00000352606:p.Arg83His	0					HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	p.R83H	NM_178232.2	NP_839946.1	0	1	1	1.986442	Q96S86	HPLN3_HUMAN		3	462	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	1	1	hg19	c.248G>A	CCDS10346.1	1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	0	HAPLN3	87225837	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	1	0	1		2	2	2	0		0	0	110		110	98	1	2.060000	-20.000000	1	0.170000	NM_178232			114	105		504	466	1		1	1		0	0	110	0		1	1	0	7	0	151	0	114	504
RLBP1	6017	broad.mit.edu	37	15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	148	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)			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)	CGACTAGAGAGGACACCAGGG	0.542																																						ENST00000268125.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(442-444)Ctc>Atc		retinaldehyde binding protein 1	Vitamin A(DB00162)						125.0	114.0	118.0					15																	89758374		2200	4299	6499	SO:0001583	missense	6017	0	0					g.chr15:89758374G>T	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.442C>A	chr15.hg19:g.89758374G>T	ENSP00000268125:p.Leu148Ile	0						p.L148I	NM_000326.4	NP_000317.1	0	1	1	1.986442	P12271	RLBP1_HUMAN		6	881	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		B2R667	Missense_Mutation	SNP	ENST00000268125.5	1	1	hg19	c.442C>A	CCDS32324.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362622	0.82353	.	.	ENSG00000140522	ENST00000268125	T	0.74737	-0.87	4.8	4.8	0.61643	4.8	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.72032	D	0.01	-14.822	11.386	0.49785	0.0835:0.0:0.9165:0.0	.	148	P12271	RLBP1_HUMAN	I	148	ENSP00000268125:L148I	ENSP00000268125:L148I	L	-	1	0	0	RLBP1	87559378	87559378	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.433000	0.80362	2.229000	0.72834	0.561000	0.74099	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.411438	1	0.170000	NM_000326			123	119		482	474	1		1	1		0	0	124	0		1	1.086182e-01	0	3	0	0	0	123	482
POLG	5428	broad.mit.edu	37	15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	839					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2515-2517)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							59.0	59.0	59.0					15																	89865049		2200	4299	6499	SO:0001583	missense	5428	0	0					g.chr15:89865049G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2516C>T	chr15.hg19:g.89865049G>A	ENSP00000268124:p.Ala839Val	0					POLG_ENST00000442287.2_Missense_Mutation_p.A839V	p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	0	1	1	1.986442	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)	16	2849	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	1	1	hg19	c.2516C>T	CCDS10350.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938706	0.92526	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98362	-4.89;-4.89	5.37	5.37	0.77165	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.103397	0.64402	D	0.000003	D	0.97993	0.9339	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.97162	0.9838	10	0.13108	T	0.6	-20.404	14.6815	0.69020	0.0:0.145:0.855:0.0	.	839	P54098	DPOG1_HUMAN	V	839	ENSP00000268124:A839V;ENSP00000399851:A839V	ENSP00000268124:A839V	A	-	2	0	0	POLG	87666053	87666053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.478000	0.81082	2.529000	0.85273	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_002693			73	71		341	332	1		1	1		0	0	73	0		1	1	0	27	0	90	0	73	341
POLG	5428	broad.mit.edu	37	15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	346					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1036-1038)Gac>Aac	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							56.0	56.0	56.0					15																	89872050		2200	4299	6499	SO:0001583	missense	5428	0	0					g.chr15:89872050C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1036G>A	chr15.hg19:g.89872050C>T	ENSP00000268124:p.Asp346Asn	0					POLG_ENST00000442287.2_Missense_Mutation_p.D346N	p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	0	1	1	1.986442	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)	5	1369	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	1	1	hg19	c.1036G>A	CCDS10350.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.316201	0.95655	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99376	-5.79;-5.79	5.53	5.53	0.82687	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.041214	0.85682	D	0.000000	D	0.99199	0.9722	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.99924	1.1273	10	0.16896	T	0.51	-35.7266	19.6556	0.95837	0.0:1.0:0.0:0.0	.	346	P54098	DPOG1_HUMAN	N	346	ENSP00000268124:D346N;ENSP00000399851:D346N	ENSP00000268124:D346N	D	-	1	0	0	POLG	87673054	87673054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_002693			71	69		330	328	1		1	1		0	0	83	0		1	9.999997e-01	0	17	0	86	0	71	330
POLG	5428	broad.mit.edu	37	15	89872175	89872175	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	341					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1021-1023)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							77.0	68.0	71.0					15																	89872175		2200	4299	6499	SO:0001630	splice_region_variant	5428	1	121412	32				g.chr15:89872175G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1023+1C>T	chr15.hg19:g.89872175G>A		0					POLG_ENST00000442287.2_Splice_Site_p.A341V	p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	0	1	1	1.986442	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)	4	1355	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		Q8NFM2|Q92515	Splice_Site	SNP	ENST00000268124.5	1	0	hg19	c.1022C>T	CCDS10350.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724842	0.48833	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92595	-3.07;-3.07	6.06	-7.57	0.01318	6.06	-7.57	0.01318	Ribonuclease H-like (1);	1.214350	0.05347	N	0.531184	D	0.86648	0.5983	M	0.65975	2.015	0.24342	N	0.99495	B	0.02656	0.0	B	0.01281	0.0	T	0.69339	-0.5171	10	0.27785	T	0.31	0.3442	2.8765	0.05632	0.4242:0.0849:0.3187:0.1722	.	341	P54098	DPOG1_HUMAN	V	341	ENSP00000268124:A341V;ENSP00000399851:A341V	ENSP00000268124:A341V	A	-	2	0	0	POLG	87673179	87673179	0.000000	0.05858	0.028000	0.17463	0.389000	0.30415	-0.861000	0.04268	-1.448000	0.01941	-0.812000	0.03155	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.539425	1	0.170000	NM_002693	Missense_Mutation		55	55		205	199	1		1	1		0	0	48	0		1	1	0	6	0	104	0	55	205
POLG	5428	broad.mit.edu	37	15	89873447	89873447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000442287.2_Silent_p.S240S|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5	1.000000	0.560000	1	7.100000e-01	0.890000	0.869658	0.890000	1.000000																										0				33						c.(718-720)tcG>tcA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							40.0	39.0	39.0					15																	89873447		2200	4299	6499	SO:0001819	synonymous_variant	5428	0	0					g.chr15:89873447C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.720G>A	chr15.hg19:g.89873447C>T		0					POLG_ENST00000442287.2_Silent_p.S240S|POLG_ENST00000525806.1_5'Flank	p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	0	1	1	1.986442	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)	3	1053	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	1	1	hg19	c.720G>A	CCDS10350.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-19.999990	1	0.170000	NM_002693			20	20		243	236	1		1	1		0	0	82	0		9.999949e-01	9.547207e-01	0	6	0	59	0	20	243
PEX11A	8800	broad.mit.edu	37	15	90229721	90229721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90229721T>G	ENST00000300056.3	-	2	262	c.113A>C	c.(112-114)aAa>aCa	p.K38T	PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	38					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)			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)			CACCTTCTCTTTGCCAGCTTT	0.408																																						ENST00000300056.3	0.390000	0.090000	3.000000e-01	1.500000e-01	0.210000	0.230163	0.210000	0.210000																										0				7						c.(112-114)aAa>aCa		peroxisomal biogenesis factor 11 alpha							174.0	161.0	166.0					15																	90229721		2200	4299	6499	SO:0001583	missense	8800	0	0					g.chr15:90229721T>G	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.113A>C	chr15.hg19:g.90229721T>G	ENSP00000300056:p.Lys38Thr	0					PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T	p.K38T	NM_001271573.1	NP_001258502.1	0	1	1	1.986442	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)	2	262	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	0	1	hg19	c.113A>C	CCDS10354.1	0	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121402	0.37436	.	.	ENSG00000166821	ENST00000300056	T	0.41065	1.01	5.84	4.52	0.55395	5.84	4.52	0.55395	.	0.312733	0.43260	D	0.000592	T	0.28632	0.0709	L	0.35487	1.065	0.80722	D	1	B	0.16166	0.016	B	0.21917	0.037	T	0.09292	-1.0681	10	0.19590	T	0.45	-4.2629	7.6494	0.28340	0.0:0.0815:0.1433:0.7751	.	38	O75192	PX11A_HUMAN	T	38	ENSP00000300056:K38T	ENSP00000300056:K38T	K	-	2	0	0	PEX11A	88030725	88030725	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.014000	0.29950	2.229000	0.72834	0.528000	0.53228	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	0	0	1		2	2	2	0		0	0	100		100	97	1	2.060000	-7.480090	1	0.170000	NM_003847			8	8		443	435	0		1	0		0	0	100	0		9.887042e-01	9.786277e-02	0	1	0	25	0	8	443
ANPEP	290	broad.mit.edu	37	15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	703	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)			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)	TTGAAGTAGCTCAGGCTGCTC	0.572																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2107-2109)Agc>Tgc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)|Icatibant(DB06196)						145.0	131.0	136.0					15																	90340856		2200	4299	6499	SO:0001583	missense	290	0	0					g.chr15:90340856T>A	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.2107A>T	chr15.hg19:g.90340856T>A	ENSP00000300060:p.Ser703Cys	0					ANPEP_ENST00000558177.1_5'UTR	p.S703C	NM_001150.2	NP_001141.2	0	1	1	1.986442	P15144	AMPN_HUMAN	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)	15	2420	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	1	1	hg19	c.2107A>T	CCDS10356.1	1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825501	0.71143	.	.	ENSG00000166825	ENST00000300060	T	0.06528	3.29	5.46	2.99	0.34606	5.46	2.99	0.34606	.	0.496209	0.25631	N	0.029345	T	0.17704	0.0425	M	0.85197	2.74	0.09310	N	1	D	0.52996	0.957	P	0.54856	0.762	T	0.03945	-1.0990	10	0.56958	D	0.05	.	7.11	0.25384	0.0:0.0811:0.2142:0.7047	.	703	P15144	AMPN_HUMAN	C	703	ENSP00000300060:S703C	ENSP00000300060:S703C	S	-	1	0	0	ANPEP	88141860	88141860	0.000000	0.05858	0.979000	0.43373	0.995000	0.86356	-0.112000	0.10791	1.012000	0.39366	0.533000	0.62120	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000				142	139		647	639	1		1	1		0	0	171	0		1	1	0	142	0	177	0	142	647
ANPEP	290	broad.mit.edu	37	15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	637	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)			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)	TCCTCCAGTTCTCTTCGTCGT	0.577																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6	0.730000	0.270000	6.100000e-01	3.600000e-01	0.470000	0.489324	0.470000	0.460000																										0				57						c.(1909-1911)gaG>gaT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)|Icatibant(DB06196)						137.0	124.0	128.0					15																	90342699		2200	4299	6499	SO:0001583	missense	290	0	0					g.chr15:90342699C>A	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.1911G>T	chr15.hg19:g.90342699C>A	ENSP00000300060:p.Glu637Asp	0					ANPEP_ENST00000558177.1_5'UTR	p.E637D	NM_001150.2	NP_001141.2	0	1	1	1.986442	P15144	AMPN_HUMAN	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)	13	2224	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	1	1	hg19	c.1911G>T	CCDS10356.1	0	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289855	0.05568	.	.	ENSG00000166825	ENST00000300060	T	0.29397	1.57	5.15	0.631	0.17699	5.15	0.631	0.17699	.	1.719790	0.02482	N	0.088618	T	0.21227	0.0511	N	0.17631	0.505	0.21719	N	0.999573	B	0.06786	0.001	B	0.15052	0.012	T	0.20806	-1.0264	10	0.10377	T	0.69	.	10.3218	0.43771	0.0:0.5417:0.3197:0.1385	.	637	P15144	AMPN_HUMAN	D	637	ENSP00000300060:E637D	ENSP00000300060:E637D	E	-	3	2	2	ANPEP	88143703	88143703	0.000000	0.05858	0.287000	0.24848	0.281000	0.26958	-0.806000	0.04525	0.154000	0.19237	-0.256000	0.11100	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-14.716170	1	0.170000				14	14		338	335	0		1	1		0	0	69	0		9.997537e-01	9.999514e-01	0	33	0	400	0	14	338
ANPEP	290	broad.mit.edu	37	15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	445	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)			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)	GCATCCACTGCCATCACGCGG	0.612																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999344	0.990000	1.000000																										0				57						c.(1333-1335)Gca>Aca		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)|Icatibant(DB06196)						95.0	98.0	97.0					15																	90346982		2200	4299	6499	SO:0001583	missense	290	0	0					g.chr15:90346982C>T	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.1333G>A	chr15.hg19:g.90346982C>T	ENSP00000300060:p.Ala445Thr	0					ANPEP_ENST00000558177.1_5'Flank	p.A445T	NM_001150.2	NP_001141.2	0	1	1	1.986442	P15144	AMPN_HUMAN	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)	8	1646	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	1	1	hg19	c.1333G>A	CCDS10356.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939934	0.52972	.	.	ENSG00000166825	ENST00000300060	T	0.02787	4.16	4.58	4.58	0.56647	4.58	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054594	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46885	1.475	0.44061	D	0.996802	P	0.43633	0.813	P	0.48952	0.596	T	0.55328	-0.8158	10	0.16420	T	0.52	.	14.8532	0.70313	0.0:1.0:0.0:0.0	.	445	P15144	AMPN_HUMAN	T	445	ENSP00000300060:A445T	ENSP00000300060:A445T	A	-	1	0	0	ANPEP	88147986	88147986	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.163000	0.50763	2.093000	0.63338	0.305000	0.20034	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000				42	42		305	303	1		1	1		0	0	83	0		1	9.999995e-01	0	87	0	74	0	42	305
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|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.T277T(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)	CCAGCAAGTACGTGGACATCT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T277T(1)	lung(1)	57						c.(829-831)acG>acA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)|Icatibant(DB06196)						335.0	277.0	297.0					15																	90348375		2200	4299	6499	SO:0001819	synonymous_variant	290	5	121412	41				g.chr15:90348375C>T	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.831G>A	chr15.hg19:g.90348375C>T		0					ANPEP_ENST00000558177.1_5'Flank	p.T277T	NM_001150.2	NP_001141.2	0	1	1	1.986442	P15144	AMPN_HUMAN	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)	4	1144	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	1	1	hg19	c.831G>A	CCDS10356.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1		2	2	2	0		0	0	161		161	159	1	2.060000	-20.000000	1	0.170000				165	161		724	710	1		1	1		0	0	161	0		1	1	0	39	0	148	0	165	724
IDH2	3418	broad.mit.edu	37	15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000330062.3	-	5	715	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_ENST00000559482.1_Missense_Mutation_p.G92D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000540499.2_Missense_Mutation_p.G149D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	201					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587			M		GBM																																	ENST00000330062.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q26.1	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """				M	M			GBM		0				1109						c.(601-603)gGc>gAc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							88.0	84.0	85.0					15																	90631667		2200	4298	6498	SO:0001583	missense	3418	0	0					g.chr15:90631667C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.602G>A	chr15.hg19:g.90631667C>T	ENSP00000331897:p.Gly201Asp	0					IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D	p.G201D	NM_002168.2	NP_002159.2	0	1	1	1.986442	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)	5	715	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	1	1	hg19	c.602G>A	CCDS10359.1	1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819696	0.50633	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.973	D;D	0.68483	0.955;0.958	D	0.93049	0.6464	10	0.72032	D	0.01	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	201;201	Q53GL5;P48735	.;IDHP_HUMAN	D	201;71;149	ENSP00000331897:G201D;ENSP00000438457:G71D;ENSP00000446147:G149D	ENSP00000331897:G201D	G	-	2	0	0	IDH2	88432671	88432671	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.781000	0.85668	2.747000	0.94245	0.462000	0.41574	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000				128	128		472	460	1		1	1		0	0	98	0		1	1	0	66	0	329	0	128	472
IDH2	3418	broad.mit.edu	37	15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000330062.3	-	4	540	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000540499.2_Missense_Mutation_p.L91M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	143					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552			M		GBM																																	ENST00000330062.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q26.1	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """				M	M			GBM		0				1109						c.(427-429)Ctg>Atg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							105.0	105.0	105.0					15																	90631926		2200	4298	6498	SO:0001583	missense	3418	0	0					g.chr15:90631926G>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.427C>A	chr15.hg19:g.90631926G>T	ENSP00000331897:p.Leu143Met	0					IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000559482.1_Intron	p.L143M	NM_002168.2	NP_002159.2	0	1	1	1.986442	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)	4	540	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	1	1	hg19	c.427C>A	CCDS10359.1	1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225975	0.39300	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.85955	-2.05;-2.05;-2.05	5.67	4.56	0.56223	5.67	4.56	0.56223	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.64402	D	0.000001	D	0.94571	0.8251	H	0.98276	4.19	0.44995	D	0.998017	D	0.76494	0.999	D	0.80764	0.994	D	0.94648	0.7836	10	0.87932	D	0	.	8.6475	0.34013	0.1763:0.0:0.8237:0.0	.	143	P48735	IDHP_HUMAN	M	143;13;91	ENSP00000331897:L143M;ENSP00000438457:L13M;ENSP00000446147:L91M	ENSP00000331897:L143M	L	-	1	2	2	IDH2	88432930	88432930	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.443000	0.44881	2.666000	0.90696	0.561000	0.74099	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	0		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000				66	65		368	358	1		1	1		0	0	77	0		1	1	0	77	0	336	0	66	368
IDH2	3418	broad.mit.edu	37	15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000330062.3	-	4	511	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000540499.2_Missense_Mutation_p.K81R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	133					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517			M		GBM																																	ENST00000330062.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		15	15q26.1	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """				M	M			GBM		0				1109						c.(397-399)aAa>aGa		isocitrate dehydrogenase 2 (NADP+), mitochondrial							91.0	92.0	91.0					15																	90631955		2200	4298	6498	SO:0001583	missense	3418	0	0					g.chr15:90631955T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.398A>G	chr15.hg19:g.90631955T>C	ENSP00000331897:p.Lys133Arg	0					IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000559482.1_Intron	p.K133R	NM_002168.2	NP_002159.2	0	1	1	1.986442	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)	4	511	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	1	1	hg19	c.398A>G	CCDS10359.1	1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639058	0.29157	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.73258	-0.73;-0.73;-0.73	5.67	4.53	0.55603	5.67	4.53	0.55603	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.25144	0.715	0.42806	D	0.993945	B	0.09022	0.002	B	0.11329	0.006	T	0.45352	-0.9267	10	0.21540	T	0.41	.	11.1028	0.48186	0.0:0.0:0.1553:0.8447	.	133	P48735	IDHP_HUMAN	R	133;3;81	ENSP00000331897:K133R;ENSP00000438457:K3R;ENSP00000446147:K81R	ENSP00000331897:K133R	K	-	2	0	0	IDH2	88432959	88432959	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.238000	0.72350	0.952000	0.37798	0.459000	0.35465	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000				58	57		343	336	1		1	1		0	0	68	0		1	1	0	85	0	290	0	58	343
SEMA4B	10509	broad.mit.edu	37	15	90766793	90766793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000379122.3_Silent_p.G283G|SEMA4B_ENST00000332496.6_Silent_p.G288G	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	283	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)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647																																						ENST00000411539.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997510	0.990000	1.000000																										0				12						c.(862-864)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							20.0	21.0	21.0					15																	90766793		2113	4221	6334	SO:0001819	synonymous_variant	10509	2	121046	31				g.chr15:90766793C>T	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.864C>T	chr15.hg19:g.90766793C>T		0					SEMA4B_ENST00000379122.3_Silent_p.G283G|SEMA4B_ENST00000332496.6_Silent_p.G288G	p.G288G	NM_198925.2	NP_945119.1	0	1	1	1.986442	Q9NPR2	SEM4B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)	8	1124	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	1	1	hg19	c.864C>T	CCDS45347.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_198925			16	16		95	94	1		1	1		0	0	27	0		9.999529e-01	1	0	183	0	245	0	16	95
CIB1	10519	broad.mit.edu	37	15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	138	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582																																						ENST00000328649.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999604	0.990000	1.000000																										0				2						c.(412-414)Gag>Tag		calcium and integrin binding 1 (calmyrin)							86.0	86.0	86.0					15																	90774380		2199	4298	6497	SO:0001587	stop_gained	10519	0	0					g.chr15:90774380C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.412G>T	chr15.hg19:g.90774380C>A	ENSP00000333873:p.Glu138*	0					GDPGP1_ENST00000558017.1_5'Flank	p.E138*	NM_006384.3	NP_006375.2	0	1	1	1.986442	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)	5	573	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Nonsense_Mutation	SNP	ENST00000328649.6	0	1	hg19	c.412G>T	CCDS10360.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246815	0.80024	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.44	3.53	0.40419	5.44	3.53	0.40419	.	0.337042	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-20.3041	9.9796	0.41806	0.0:0.6325:0.2911:0.0764	.	.	.	.	X	138	.	ENSP00000333873:E138X	E	-	1	0	0	CIB1	88575384	88575384	0.996000	0.38824	0.944000	0.38274	0.348000	0.29142	3.252000	0.51461	1.284000	0.44531	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1	1	0	0		2	2	2	0		0	0	97		97	97	1	2.060000	-3.142705	1	0.170000				51	47		376	367	0		1	1		0	0	97	0		1	1	0	45	0	824	0	51	376
CIB1	10519	broad.mit.edu	37	15	90774446	90774446	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774446C>T	ENST00000328649.6	-	5	508		c.e5-1		GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCATCAAAGTCTAGAGAGCAG	0.582																																						ENST00000328649.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				2						c.e5-1		calcium and integrin binding 1 (calmyrin)							72.0	76.0	74.0					15																	90774446		2199	4298	6497	SO:0001630	splice_region_variant	10519	0	0					g.chr15:90774446C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.347-1G>A	chr15.hg19:g.90774446C>T		0					GDPGP1_ENST00000558017.1_5'Flank		NM_006384.3	NP_006375.2	0	1	1	1.986442	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)	5	508	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Splice_Site	SNP	ENST00000328649.6	1	0	hg19		CCDS10360.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314714	0.81358	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5535	0.87884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CIB1	88575450	88575450	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.487000	0.81328	2.389000	0.81357	0.467000	0.42956	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1	1	0	0		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000		Intron		61	63		400	397	1		1	1		0	0	110	0		1	9.998462e-01	0	83	0	3	0	61	400
NGRN	51335	broad.mit.edu	37	15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	49					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	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)			GGAGGAACGGGAGCTGCAGGA	0.751																																						ENST00000379095.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				11						c.(145-147)Gag>Aag		neugrin, neurite outgrowth associated							7.0	10.0	9.0					15																	90809089		2143	4177	6320	SO:0001583	missense	51335	0	0					g.chr15:90809089G>A	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.145G>A	chr15.hg19:g.90809089G>A	ENSP00000368389:p.Glu49Lys	0					RP11-697E2.6_ENST00000561573.1_Intron|NGRN_ENST00000331497.3_3'UTR	p.E49K	NM_001033088.1	NP_001028260.2	0	1	1	1.986442	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)	1	153	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	0	1	hg19	c.145G>A	CCDS32329.1	1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331857	0.41297	.	.	ENSG00000182768	ENST00000379095	T	0.30981	1.51	4.77	3.86	0.44501	4.77	3.86	0.44501	.	0.104340	0.36591	U	0.002516	T	0.27134	0.0665	L	0.32530	0.975	0.32686	N	0.514831	P	0.43094	0.799	P	0.50537	0.643	T	0.14643	-1.0465	10	0.07030	T	0.85	.	8.6983	0.34310	0.1017:0.0:0.8983:0.0	.	49	Q9NPE2	NGRN_HUMAN	K	49	ENSP00000368389:E49K	ENSP00000368389:E49K	E	+	1	0	0	NGRN	88610093	88610093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.250000	0.43966	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1	1	0	1		2	2	2	0		0	0	10		10	8	1	2.060000	-20.000000	1	0.170000				22	22		81	79	1		1	1		0	0	10	0		9.999994e-01	9.998893e-01	0	22	0	38	0	22	81
NGRN	51335	broad.mit.edu	37	15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	235					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	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)			AAGAGAGCTGCAGAAGTACTC	0.517																																						ENST00000379095.3	1.000000	0.420000	9.600000e-01	5.600000e-01	0.740000	0.754227	0.740000	1.000000																										0				11						c.(703-705)Cag>Tag		neugrin, neurite outgrowth associated							50.0	45.0	47.0					15																	90814847		2199	4298	6497	SO:0001587	stop_gained	51335	0	0					g.chr15:90814847C>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.703C>T	chr15.hg19:g.90814847C>T	ENSP00000368389:p.Gln235*	0					RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	p.Q235*	NM_001033088.1	NP_001028260.2	0	1	1	1.986442	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)	3	711	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		B2R6M8|Q4V9L7|Q9HBL4	Nonsense_Mutation	SNP	ENST00000379095.3	0	1	hg19	c.703C>T	CCDS32329.1	0	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583783	0.46006	.	.	ENSG00000182768	ENST00000379095	.	.	.	3.67	2.74	0.32292	3.67	2.74	0.32292	.	0.433136	0.19828	U	0.105146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.6392	0.45584	0.1933:0.8067:0.0:0.0	.	.	.	.	X	235	.	ENSP00000368389:Q235X	Q	+	1	0	0	NGRN	88615851	88615851	0.167000	0.22975	0.003000	0.11579	0.323000	0.28346	1.272000	0.33109	1.108000	0.41662	0.557000	0.71058	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-16.825910	1	0.170000				13	13		193	188	0		1	1		0	0	50	0		9.995127e-01	1	0	40	0	707	0	13	193
ZNF774	342132	broad.mit.edu	37	15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A	rs368856575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000354377.3	+	4	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	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)			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)			AAGAGCTTCCGTCAGAAAGCG	0.433																																						ENST00000354377.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1405-1407)cGt>cAt		zinc finger protein 774		G	HIS/ARG	0,4398		0,0,2199	90.0	91.0	91.0		1406	-3.2	0.1	15		91	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF774	NM_001004309.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	469/484	90904469	1,12993	2199	4298	6497	SO:0001583	missense	342132	2	121412	38				g.chr15:90904469G>A	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.1406G>A	chr15.hg19:g.90904469G>A	ENSP00000346348:p.Arg469His	0					ZNF774_ENST00000379090.5_Intron	p.R469H	NM_001004309.2	NP_001004309.2	0	1	1	1.986442	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)	4	1592	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		A8K020	Missense_Mutation	SNP	ENST00000354377.3	1	1	hg19	c.1406G>A	CCDS32330.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019029	0.54576	0.0	1.16E-4	ENSG00000196391	ENST00000354377	T	0.18016	2.24	5.86	-3.2	0.05156	5.86	-3.2	0.05156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33438	U	0.004915	T	0.24122	0.0584	M	0.62016	1.91	0.39717	D	0.97141	D	0.76494	0.999	D	0.65773	0.938	T	0.25779	-1.0122	10	0.54805	T	0.06	.	1.1591	0.01802	0.4239:0.1154:0.2257:0.2349	.	469	Q6NX45	ZN774_HUMAN	H	469	ENSP00000346348:R469H	ENSP00000346348:R469H	R	+	2	0	0	ZNF774	88705473	88705473	0.000000	0.05858	0.122000	0.21767	0.870000	0.49936	0.565000	0.23578	-0.543000	0.06240	-0.244000	0.11960	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_001004309			113	113		440	432	1		1	1		0	0	113	0		1	6.908857e-01	0	6	0	5	0	113	440
IQGAP1	8826	broad.mit.edu	37	15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	851	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433																																						ENST00000268182.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2551-2553)gCt>gTt		IQ motif containing GTPase activating protein 1							58.0	57.0	57.0					15																	91017342		2198	4298	6496	SO:0001583	missense	8826	0	0					g.chr15:91017342C>T	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.2552C>T	chr15.hg19:g.91017342C>T	ENSP00000268182:p.Ala851Val	0					IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	p.A851V	NM_003870.3	NP_003861.1	0	1	1	1.986442	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)	22	2676	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	1	1	hg19	c.2552C>T	CCDS10362.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.654607	0.96724	.	.	ENSG00000140575	ENST00000268182	T	0.02498	4.27	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.80616	2.505	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	T	0.00127	-1.2019	10	0.46703	T	0.11	-14.4008	18.7225	0.91700	0.0:1.0:0.0:0.0	.	851	P46940	IQGA1_HUMAN	V	851	ENSP00000268182:A851V	ENSP00000268182:A851V	A	+	2	0	0	IQGAP1	88818346	88818346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.746000	0.94184	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-3.425203	1	0.170000	NM_003870			43	42		198	195	1		1	1		0	0	33	0		1	1	0	159	0	360	0	43	198
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A	rs192214530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000268184.6	+	2	223	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000420329.2_Silent_p.A73A|CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				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)		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)			GGAGCAGTGCGTCAGAGTTTC	0.423			T	MAML2	salivary gland mucoepidermoid								G|||	1	0.000199681	0.0	0.0	5008	,	,		17350	0.001		0.0	False		,,,				2504	0.0					ENST00000268184.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q26.1	15q26.1	64784	T	CREB regulated transcription coactivator 3				E	E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				20						c.(217-219)gcG>gcA		CREB regulated transcription coactivator 3							96.0	91.0	93.0					15																	91083357		2198	4298	6496	SO:0001819	synonymous_variant	64784	0	0					g.chr15:91083357G>A		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.219G>A	chr15.hg19:g.91083357G>A		0					CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000420329.2_Silent_p.A73A|CRTC3_ENST00000560098.1_Silent_p.A73A	p.A73A			0	1	1	1.986442	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)	2	223	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	1	1	hg19	c.219G>A	CCDS32331.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-4.304804	1	0.170000	NM_022769			53	51		175	175	1		1	1		0	0	55	0		1	9.999999e-01	0	11	0	77	0	53	175
BLM	641	broad.mit.edu	37	15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000355112.3	+	7	1457	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000560509.1_Missense_Mutation_p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	447	Necessary for interaction with SPIDR.				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)			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)			CTGCCCTACAGGGAATTCTAT	0.438			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Bloom Syndrome	yes	Rec		Bloom Syndrome	15	15q26.1	15q26.1	641	Mis, N, F	Bloom Syndrome				"""L, E"""	L, E		leukemia, lymphoma, skin squamous cell , other cancers			0				51						c.(1339-1341)Ggg>Agg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							122.0	125.0	124.0					15																	91303942		2198	4298	6496	SO:0001583	missense	641	0	0		Bloom syndrome	Familial Cancer Database		g.chr15:91303942G>A	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.1339G>A	chr15.hg19:g.91303942G>A	ENSP00000347232:p.Gly447Arg	0					BLM_ENST00000560509.1_Missense_Mutation_p.G447R	p.G447R	NM_000057.2	NP_000048.1	0	1	1	1.986442	P54132	BLM_HUMAN	Lung(145;0.189)	7	1457	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	1	1	hg19	c.1339G>A	CCDS10363.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987362	0.35036	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.83	4.91	0.64330	5.83	4.91	0.64330	.	2.117220	0.01426	N	0.014550	T	0.43255	0.1239	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.35126	-0.9801	10	0.17369	T	0.5	-10.5917	12.8054	0.57610	0.0:0.1764:0.8236:0.0	.	447;72;447	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	R	447;100	ENSP00000347232:G447R	ENSP00000347232:G447R	G	+	1	0	0	BLM	89104946	89104946	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	1.458000	0.47871	0.591000	0.81541	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1		2	2	2	0		0	0	177		177	176	1	2.060000	-2.791010	1	0.170000				118	117		566	548	1		1	0		0	0	177	0		1	5.904047e-01	0	0	0	11	0	118	566
BLM	641	broad.mit.edu	37	15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A	rs372013507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000355112.3	+	14	2858	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)			AGATGGGCTCGCTGCTCTTGC	0.473			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Bloom Syndrome	yes	Rec		Bloom Syndrome	15	15q26.1	15q26.1	641	Mis, N, F	Bloom Syndrome				"""L, E"""	L, E		leukemia, lymphoma, skin squamous cell , other cancers			0				51						c.(2740-2742)Gct>Act	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like		G	THR/ALA	0,4396		0,0,2198	102.0	92.0	96.0		2740	4.0	0.6	15		96	2,8594	2.2+/-6.3	0,2,4296	no	missense	BLM	NM_000057.2	58	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	benign	914/1418	91328228	2,12990	2198	4298	6496	SO:0001583	missense	641	5	121412	38	Bloom syndrome	Familial Cancer Database		g.chr15:91328228G>A	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.2740G>A	chr15.hg19:g.91328228G>A	ENSP00000347232:p.Ala914Thr	0					BLM_ENST00000560509.1_Missense_Mutation_p.A914T|BLM_ENST00000560136.1_3'UTR	p.A914T	NM_000057.2	NP_000048.1	0	1	1	1.986442	P54132	BLM_HUMAN	Lung(145;0.189)	14	2858	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	1	1	hg19	c.2740G>A	CCDS10363.1	1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991236	0.18966	0.0	2.33E-4	ENSG00000197299	ENST00000355112;ENST00000543977	T	0.74947	-0.89	5.84	3.95	0.45737	5.84	3.95	0.45737	Helicase, C-terminal (3);	0.299378	0.36665	N	0.002465	T	0.59595	0.2205	N	0.17474	0.49	0.36005	D	0.837663	B;B;B	0.24721	0.015;0.11;0.032	B;B;B	0.29942	0.034;0.109;0.034	T	0.60026	-0.7343	10	0.34782	T	0.22	-14.9564	11.2575	0.49063	0.0:0.138:0.7184:0.1436	.	914;539;914	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	914;101	ENSP00000347232:A914T	ENSP00000347232:A914T	A	+	1	0	0	BLM	89129232	89129232	0.252000	0.23972	0.647000	0.29507	0.050000	0.14768	1.471000	0.35365	0.801000	0.34066	-0.152000	0.13540	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				72	71		302	298	1		1	0		0	0	80	0		1	4.779746e-01	0	0	0	8	0	72	302
BLM	641	broad.mit.edu	37	15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000355112.3	+	18	3552	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1145					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)			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)			GCCGAAAGACTTTTTAAAAAG	0.383			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Bloom Syndrome	yes	Rec		Bloom Syndrome	15	15q26.1	15q26.1	641	Mis, N, F	Bloom Syndrome				"""L, E"""	L, E		leukemia, lymphoma, skin squamous cell , other cancers			0				51						c.(3433-3435)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							89.0	89.0	89.0					15																	91346826		2198	4298	6496	SO:0001583	missense	641	0	0		Bloom syndrome	Familial Cancer Database		g.chr15:91346826T>G	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.3434T>G	chr15.hg19:g.91346826T>G	ENSP00000347232:p.Leu1145Arg	0					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1145R	NM_000057.2	NP_000048.1	0	1	1	1.986442	P54132	BLM_HUMAN	Lung(145;0.189)	18	3552	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	1	1	hg19	c.3434T>G	CCDS10363.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405061	0.83230	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.56103	0.48	5.65	5.65	0.86999	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.90425	3.115	0.80722	D	1	P	0.51791	0.948	P	0.55011	0.766	T	0.79196	-0.1903	10	0.87932	D	0	-1.4901	13.8364	0.63413	0.0:0.0:0.0:1.0	.	1145	P54132	BLM_HUMAN	R	1145;775;332	ENSP00000347232:L1145R	ENSP00000347232:L1145R	L	+	2	0	0	BLM	89147830	89147830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.163000	0.67991	0.459000	0.35465	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				86	85		378	371	1		1	0		0	0	95	0		1	2.346630e-01	0	0	0	5	0	86	378
BLM	641	broad.mit.edu	37	15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000355112.3	+	19	3788	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1224	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				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)			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)			AGAACTTACAGAAGTCTGCAA	0.388			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Bloom Syndrome	yes	Rec		Bloom Syndrome	15	15q26.1	15q26.1	641	Mis, N, F	Bloom Syndrome				"""L, E"""	L, E		leukemia, lymphoma, skin squamous cell , other cancers			0				51						c.(3670-3672)Gaa>Taa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							103.0	108.0	106.0					15																	91347508		2198	4298	6496	SO:0001587	stop_gained	641	0	0		Bloom syndrome	Familial Cancer Database		g.chr15:91347508G>T	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.3670G>T	chr15.hg19:g.91347508G>T	ENSP00000347232:p.Glu1224*	0					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.E1224*	NM_000057.2	NP_000048.1	0	1	1	1.986442	P54132	BLM_HUMAN	Lung(145;0.189)	19	3788	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		Q52M96	Nonsense_Mutation	SNP	ENST00000355112.3	0	1	hg19	c.3670G>T	CCDS10363.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.542031	0.99424	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.278177	0.39544	N	0.001330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-14.6196	17.7921	0.88555	0.0:0.0:1.0:0.0	.	.	.	.	X	1224;854;411	.	ENSP00000347232:E1224X	E	+	1	0	0	BLM	89148512	89148512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.802000	0.96397	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000				141	138		596	586	1		1	0		0	0	99	0		1	5.984901e-01	0	0	0	10	0	141	596
FURIN	5045	broad.mit.edu	37	15	91424215	91424215	+	Silent	SNP	C	C	T	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	579					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622													C|||	4	0.000798722	0.0015	0.0	5008	,	,		18223	0.001		0.0	False		,,,				2504	0.001					ENST00000268171.3	1.000000	0.660000	1	7.700000e-01	0.900000	0.893109	0.900000	1.000000																										0				36						c.(1735-1737)ccC>ccT		furin (paired basic amino acid cleaving enzyme)		C		4,4392	8.1+/-20.4	0,4,2194	87.0	94.0	92.0		1737	-5.9	0.0	15	dbSNP_134	92	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,5,6491	TT,TC,CC		0.0116,0.091,0.0385		579/795	91424215	5,12987	2198	4298	6496	SO:0001819	synonymous_variant	5045	17	121412	45				g.chr15:91424215C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1737C>T	chr15.hg19:g.91424215C>T		0						p.P579P	NM_002569.2	NP_002560.1	0	1	1	1.986442	P09958	FURIN_HUMAN	Lung(145;0.189)	15	2016	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	1	1	hg19	c.1737C>T	CCDS10364.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-2.619823	1	0.170000	NM_002569			42	40		501	489	0		1	1		0	0	120	0		1	1	0	41	0	488	0	42	501
FURIN	5045	broad.mit.edu	37	15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	rs145582614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	624					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18211	0.0		0.0	False		,,,				2504	0.0					ENST00000268171.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1870-1872)Gat>Aat		furin (paired basic amino acid cleaving enzyme)		G	ASN/ASP	7,4387	12.9+/-30.5	0,7,2190	72.0	66.0	68.0		1870	1.1	0.0	15	dbSNP_134	68	0,8596		0,0,4298	yes	missense	FURIN	NM_002569.2	23	0,7,6488	AA,AG,GG		0.0,0.1593,0.0539	benign	624/795	91424593	7,12983	2197	4298	6495	SO:0001583	missense	5045	24	121394	46				g.chr15:91424593G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1870G>A	chr15.hg19:g.91424593G>A	ENSP00000268171:p.Asp624Asn	0						p.D624N	NM_002569.2	NP_002560.1	0	1	1	1.986442	P09958	FURIN_HUMAN	Lung(145;0.189)	16	2149	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	1	1	hg19	c.1870G>A	CCDS10364.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.019	-1.466039	0.01053	0.001593	0.0	ENSG00000140564	ENST00000268171	D	0.87103	-2.21	5.02	1.07	0.20283	5.02	1.07	0.20283	Growth factor, receptor (1);	0.663946	0.15833	N	0.242409	T	0.58090	0.2098	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53669	-0.8406	10	0.10111	T	0.7	-2.6261	8.3769	0.32449	0.7967:0.0:0.2033:0.0	.	624	P09958	FURIN_HUMAN	N	624	ENSP00000268171:D624N	ENSP00000268171:D624N	D	+	1	0	0	FURIN	89225597	89225597	0.212000	0.23540	0.001000	0.08648	0.046000	0.14306	2.576000	0.46033	0.017000	0.15025	0.555000	0.69702	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_002569			122	116		467	454	1		1	1		0	0	118	0		1	1	0	93	0	390	0	122	467
FES	2242	broad.mit.edu	37	15	91435948	91435948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	ENST00000328850.3	+	14	1861	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_ENST00000394300.3_Silent_p.G515G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAACTTTGGCGAAGTGTTCA	0.597																																						ENST00000328850.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0				3						c.(1717-1719)ggC>ggT		FES proto-oncogene, tyrosine kinase							64.0	57.0	59.0					15																	91435948		2197	4297	6494	SO:0001819	synonymous_variant	2242	1	121366	28				g.chr15:91435948C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1719C>T	chr15.hg19:g.91435948C>T		0					FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000394300.3_Silent_p.G515G	p.G573G	NM_002005.3	NP_001996.1	0	1	1	1.986442	P07332	FES_HUMAN	Lung(145;0.229)	14	1861	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	0	1	hg19	c.1719C>T	CCDS10365.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-13.574350	1	0.170000	NM_002005			19	19		80	75	0		1	0		0	0	28	0		9.999926e-01	9.999898e-01	0	1	0	90	0	19	80
MAN2A2	4122	broad.mit.edu	37	15	91447469	91447469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91447469G>A	ENST00000559717.1	+	2	491	c.32G>A	c.(31-33)gGg>gAg	p.G11E	MAN2A2_ENST00000360468.3_Missense_Mutation_p.G11E			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	11					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAGTGTGTGGGGCTGCCATC	0.567																																						ENST00000559717.1	0.470000	0.180000	3.900000e-01	2.400000e-01	0.300000	0.321412	0.300000	0.310000																										0				47						c.(31-33)gGg>gAg		mannosidase, alpha, class 2A, member 2							186.0	176.0	180.0					15																	91447469		2198	4298	6496	SO:0001583	missense	4122	0	0					g.chr15:91447469G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.32G>A	chr15.hg19:g.91447469G>A	ENSP00000452948:p.Gly11Glu	0					MAN2A2_ENST00000360468.3_Missense_Mutation_p.G11E	p.G11E			0	1	1	1.986442	P49641	MA2A2_HUMAN	Lung(145;0.229)	2	491	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	0	1	hg19	c.32G>A	CCDS32332.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.699651	0.96802	.	.	ENSG00000196547	ENST00000360468	T	0.78816	-1.21	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.104809	0.64402	D	0.000003	D	0.85465	0.5703	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.86549	0.1833	10	0.87932	D	0	-38.6804	17.5858	0.87981	0.0:0.0:1.0:0.0	.	11;11	P49641-1;P49641	.;MA2A2_HUMAN	E	11	ENSP00000353655:G11E	ENSP00000353655:G11E	G	+	2	0	0	MAN2A2	89248473	89248473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	2.678000	0.91216	0.555000	0.69702	GGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-1.968198	0	0.170000	NM_006122			17	16		632	624	0		1	0		0	0	134	0		9.999608e-01	4.709213e-01	0	0	0	58	0	17	632
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000559717.1	+	22	3676	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000558538.1_3'UTR			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1073					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607																																						ENST00000559717.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999062	0.990000	1.000000																										0				47						c.(3217-3219)Gca>Aca		mannosidase, alpha, class 2A, member 2							49.0	41.0	44.0					15																	91461902		2198	4298	6496	SO:0001583	missense	4122	6	121412	35				g.chr15:91461902G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3217G>A	chr15.hg19:g.91461902G>A	ENSP00000452948:p.Ala1073Thr	0					MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000558538.1_3'UTR	p.A1073T			0	1	1	1.986442	P49641	MA2A2_HUMAN	Lung(145;0.229)	22	3676	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	1	1	hg19	c.3217G>A	CCDS32332.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.528441	0.96446	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.95	5.95	0.96441	5.95	5.95	0.96441	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.995;0.997	D	0.91919	0.5546	10	0.59425	D	0.04	-17.2714	20.458	0.99154	0.0:0.0:1.0:0.0	.	581;701;1073	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	T	1073;581;263	ENSP00000353655:A1073T;ENSP00000388221:A581T;ENSP00000394372:A263T	ENSP00000353655:A1073T	A	+	1	0	0	MAN2A2	89262906	89262906	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	7.414000	0.80117	2.835000	0.97688	0.650000	0.86243	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-3.326907	1	0.170000	NM_006122			24	24		151	144	1		1	1		0	0	40	0		9.999997e-01	9.999986e-01	0	24	0	124	0	24	151
MAN2A2	4122	broad.mit.edu	37	15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000559717.1	+	23	3902	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1148					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTCGCCTCCGCTTGGGTTAG	0.527																																						ENST00000559717.1	0.670000	0.250000	5.600000e-01	3.300000e-01	0.430000	0.452651	0.430000	0.430000																										0				47						c.(3442-3444)cGc>cAc		mannosidase, alpha, class 2A, member 2							136.0	115.0	122.0					15																	91463007		2198	4298	6496	SO:0001583	missense	4122	1	121412	37				g.chr15:91463007G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3443G>A	chr15.hg19:g.91463007G>A	ENSP00000452948:p.Arg1148His	0					MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|AC068831.15_ENST00000560522.1_RNA	p.R1148H			0	1	1	1.986442	P49641	MA2A2_HUMAN	Lung(145;0.229)	23	3902	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	1	1	hg19	c.3443G>A	CCDS32332.1	0	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227900	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	5.24	5.24	0.73138	Glycoside hydrolase-type carbohydrate-binding (1);	0.128109	0.52532	D	0.000073	T	0.78451	0.4285	L	0.52759	1.655	0.51233	D	0.99991	P;P;B	0.37636	0.603;0.603;0.051	B;B;B	0.28709	0.093;0.059;0.023	T	0.79818	-0.1643	10	0.48119	T	0.1	-29.5313	19.2433	0.93891	0.0:0.0:1.0:0.0	.	656;776;1148	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	1148;656;338	ENSP00000353655:R1148H;ENSP00000388221:R656H;ENSP00000394372:R338H	ENSP00000353655:R1148H	R	+	2	0	0	MAN2A2	89264011	89264011	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.440000	0.59975	2.636000	0.89361	0.555000	0.69702	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.543683	1	0.170000	NM_006122			15	15		392	379	0		1	1		0	0	85	0		9.998434e-01	9.597752e-01	0	6	0	137	0	15	392
PRC1	9055	broad.mit.edu	37	15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1_ENST00000361919.3_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000361188.5_Intron|PRC1-AS1_ENST00000556200.1_RNA	NM_003981.3	NP_003972			protein regulator of cytokinesis 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)					GAGAGGGACGGATCCTTCTAA	0.488																																						ENST00000394249.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996994	0.990000	1.000000																										0				25						c.(1756-1758)Ccg>Tcg		protein regulator of cytokinesis 1							108.0	87.0	95.0					15																	91512344		2198	4298	6496	SO:0001583	missense	9055	0	0					g.chr15:91512344G>A	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	ENST00000394249.3:c.1756C>T	chr15.hg19:g.91512344G>A	ENSP00000377793:p.Pro586Ser	0					PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000442656.2_Intron	p.P586S	NM_003981.3	NP_003972	0	1	1	1.986442				14	1833	-	Lung NSC(78;0.0987)|all_lung(78;0.175)			Missense_Mutation	SNP	ENST00000394249.3	1	1	hg19	c.1756C>T	CCDS32334.1	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662517	0.67700	.	.	ENSG00000198901	ENST00000394249;ENST00000555455	T	0.32023	1.47	5.97	5.05	0.67936	5.97	5.05	0.67936	.	0.192367	0.32970	N	0.005440	T	0.27205	0.0667	N	0.22421	0.69	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.02202	-1.1196	10	0.07325	T	0.83	-15.7032	10.1602	0.42847	0.0881:0.0:0.9119:0.0	.	586	O43663	PRC1_HUMAN	S	586;189	ENSP00000377793:P586S	ENSP00000377793:P586S	P	-	1	0	0	PRC1	89313348	89313348	0.999000	0.42202	0.968000	0.41197	0.959000	0.62525	2.695000	0.47043	2.851000	0.98039	0.644000	0.83932	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414757.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-11.172390	1	0.170000	NM_003981			21	21		143	140	1		1	1		0	0	65	0		9.999981e-01	4.350539e-01	0	4	0	7	0	21	143
VPS33B	26276	broad.mit.edu	37	15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	379					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567																																						ENST00000333371.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				16						c.(1135-1137)aGc>aAc		vacuolar protein sorting 33 homolog B (yeast)							111.0	99.0	103.0					15																	91548319		2198	4298	6496	SO:0001583	missense	26276	0	0					g.chr15:91548319C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1136G>A	chr15.hg19:g.91548319C>T	ENSP00000327650:p.Ser379Asn	0					VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	p.S379N	NM_018668.3	NP_061138.3	0	1	1	1.986442	Q9H267	VP33B_HUMAN		15	1489	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	1	1	hg19	c.1136G>A	CCDS10369.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742781	0.69418	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76578	-1.03;-1.03;-1.03	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.124870	0.85682	D	0.000000	T	0.72661	0.3488	L	0.46157	1.445	0.50313	D	0.999867	B;B	0.15719	0.011;0.014	B;B	0.15870	0.008;0.014	T	0.65508	-0.6151	10	0.17369	T	0.5	-21.0209	18.3522	0.90342	0.0:1.0:0.0:0.0	.	352;379	F5H008;Q9H267	.;VP33B_HUMAN	N	379;352;288;334	ENSP00000327650:S379N;ENSP00000444053:S352N;ENSP00000446267:S288N	ENSP00000327650:S379N	S	-	2	0	0	VPS33B	89349323	89349323	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.517000	0.73759	2.873000	0.98535	0.561000	0.74099	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-19.999320	1	0.170000	NM_018668			51	50		308	294	1		1	1		0	0	89	0		1	9.997912e-01	0	25	0	53	0	51	308
SLCO3A1	28232	broad.mit.edu	37	15	92459545	92459545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	ENST00000318445.6	+	2	717	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585). {ECO:0000305}.	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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCATCTGCCGCAACCGGACG	0.701																																						ENST00000318445.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999886	0.990000	1.000000																										0				25						c.(502-504)cGc>cAc		solute carrier organic anion transporter family, member 3A1	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)						18.0	16.0	17.0					15																	92459545		2190	4289	6479	SO:0001583	missense	28232	0	0					g.chr15:92459545G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.503G>A	chr15.hg19:g.92459545G>A	ENSP00000320634:p.Arg168His	0					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	p.R168H	NM_013272.3	NP_037404.2	0	1	1	1.986442	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)	2	717	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	0	1	hg19	c.503G>A	CCDS10371.1	1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107290	0.56291	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39406	1.08;1.08;1.08	5.34	5.34	0.76211	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.32823	0.0842	N	0.11724	0.165	0.80722	D	1	P;D;B	0.59767	0.945;0.986;0.165	B;P;B	0.44696	0.258;0.458;0.046	T	0.27226	-1.0080	10	0.48119	T	0.1	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	H	168;168;110	ENSP00000320634:R168H;ENSP00000387846:R168H;ENSP00000450559:R110H	ENSP00000320634:R168H	R	+	2	0	0	SLCO3A1	90260549	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_013272			16	16		56	55	0		1	1		0	0	9	0		9.999642e-01	9.061966e-01	0	3	0	14	0	16	56
SLCO3A1	28232	broad.mit.edu	37	15	92459678	92459678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000318445.6	+	2	850	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000424469.2_Silent_p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGGACTCCTCGCTCTATATAG	0.582																																						ENST00000318445.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				25						c.(634-636)tcG>tcA		solute carrier organic anion transporter family, member 3A1	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)						14.0	16.0	15.0					15																	92459678		2197	4297	6494	SO:0001819	synonymous_variant	28232	3	121194	34				g.chr15:92459678G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.636G>A	chr15.hg19:g.92459678G>A		0					SLCO3A1_ENST00000424469.2_Silent_p.S212S	p.S212S	NM_013272.3	NP_037404.2	0	1	1	1.986442	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)	2	850	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	1	1	hg19	c.636G>A	CCDS10371.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_013272			20	19		65	64	1		1	1		0	0	17	0		9.999978e-01	9.882700e-01	0	3	0	24	0	20	65
SLCO3A1	28232	broad.mit.edu	37	15	92647576	92647576	+	Silent	SNP	C	C	T	rs552651566		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000318445.6	+	4	1027	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000424469.2_Silent_p.C271C|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	271					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTCTGCTCTGCGGTGCCTTAC	0.577																																						ENST00000318445.6	1.000000	0.880000	1	9.700000e-01	0.990000	0.988683	0.990000	1.000000																										0				25						c.(811-813)tgC>tgT		solute carrier organic anion transporter family, member 3A1	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)						222.0	196.0	205.0					15																	92647576		2198	4298	6496	SO:0001819	synonymous_variant	28232	0	0					g.chr15:92647576C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.813C>T	chr15.hg19:g.92647576C>T		0					SLCO3A1_ENST00000424469.2_Silent_p.C271C|SLCO3A1_ENST00000555549.1_3'UTR	p.C271C	NM_013272.3	NP_037404.2	0	1	1	1.986442	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)	4	1027	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	1	1	hg19	c.813C>T	CCDS10371.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	1		2	2	2	0		0	0	180		180	175	1	2.060000	-19.997080	1	0.170000	NM_013272			88	86		858	840	0		1	1		0	0	180	0		1	9.914410e-01	0	4	0	68	0	88	858
CHD2	1106	broad.mit.edu	37	15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	883	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)			GGACACAGTCGTCATCTTTGA	0.493																																						ENST00000394196.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2647-2649)Gtc>Atc		chromodomain helicase DNA binding protein 2							115.0	103.0	107.0					15																	93521533		2197	4298	6495	SO:0001583	missense	1106	0	0					g.chr15:93521533G>A	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.2647G>A	chr15.hg19:g.93521533G>A	ENSP00000377747:p.Val883Ile	0					CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	p.V883I	NM_001271.3	NP_001262.3	0	1	1	1.986442	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)	21	3715	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	1	1	hg19	c.2647G>A	CCDS10374.2	1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538166	0.27475	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.71461	-0.57;-0.57	5.82	5.82	0.92795	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.31102	U	0.008259	T	0.44074	0.1276	N	0.00894	-1.105	0.80722	D	1	B;P;P	0.35923	0.158;0.528;0.477	B;B;B	0.38500	0.241;0.275;0.051	T	0.56836	-0.7913	10	0.02654	T	1	-17.3595	20.1001	0.97870	0.0:0.0:1.0:0.0	.	883;883;883	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	I	883	ENSP00000377747:V883I;ENSP00000451366:V883I	ENSP00000377747:V883I	V	+	1	0	0	CHD2	91322537	91322537	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_001271			79	77		348	343	1		1	1		0	0	94	0		1	9.999532e-01	0	20	0	46	0	79	348
MCTP2	55784	broad.mit.edu	37	15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	5					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			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)			GATCTGGATAAACCATCTGTT	0.433																																						ENST00000357742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(13-15)aAa>aCa		multiple C2 domains, transmembrane 2							86.0	88.0	87.0					15																	94841508		2197	4298	6495	SO:0001583	missense	55784	0	0					g.chr15:94841508A>C	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.14A>C	chr15.hg19:g.94841508A>C	ENSP00000350377:p.Lys5Thr	0					MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	p.K5T	NM_018349.3	NP_060819.3	0	1	1	1.986442	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)	1	14	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	1	1	hg19	c.14A>C	CCDS32338.1	1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534538	0.45073	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.80033	-1.33;-0.94;-0.75	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000029	D	0.84374	0.5458	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	D;D;D;P;D	0.83275	0.973;0.996;0.915;0.866;0.973	D	0.86282	0.1668	10	0.72032	D	0.01	.	14.4272	0.67225	1.0:0.0:0.0:0.0	.	5;5;5;5;5	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	5	ENSP00000438521:K5T;ENSP00000395109:K5T;ENSP00000350377:K5T	ENSP00000350377:K5T	K	+	2	0	0	MCTP2	92642512	92642512	1.000000	0.71417	0.804000	0.32291	0.100000	0.18952	4.396000	0.59684	1.897000	0.54924	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	0		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_018349			93	91		407	394	1		1	1		0	0	95	0		1	8.257280e-01	0	3	0	13	0	93	407
MCTP2	55784	broad.mit.edu	37	15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A	rs367656045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	10					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			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)			TCTGTTTGGGGCTCATTAAAA	0.463																																						ENST00000357742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(28-30)gGc>gAc		multiple C2 domains, transmembrane 2							95.0	97.0	96.0					15																	94841523		2197	4298	6495	SO:0001583	missense	55784	0	0					g.chr15:94841523G>A	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.29G>A	chr15.hg19:g.94841523G>A	ENSP00000350377:p.Gly10Asp	0					MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	p.G10D	NM_018349.3	NP_060819.3	0	1	1	1.986442	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)	1	29	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	1	1	hg19	c.29G>A	CCDS32338.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025205	0.35701	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74947	-0.89;-0.63;-0.48	5.02	2.11	0.27256	5.02	2.11	0.27256	.	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.46327	0.587;0.412;0.289;0.803;0.876	B;B;B;B;P	0.48166	0.245;0.137;0.065;0.249;0.569	T	0.58092	-0.7697	10	0.42905	T	0.14	.	8.3384	0.32228	0.3112:0.0:0.6888:0.0	.	10;10;10;10;10	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	D	10	ENSP00000438521:G10D;ENSP00000395109:G10D;ENSP00000350377:G10D	ENSP00000350377:G10D	G	+	2	0	0	MCTP2	92642527	92642527	0.999000	0.42202	0.589000	0.28718	0.452000	0.32318	2.963000	0.49184	0.170000	0.19704	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	0		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_018349			97	94		418	405	1		1	1		0	0	96	0		1	8.297392e-01	0	3	0	13	0	97	418
MCTP2	55784	broad.mit.edu	37	15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T	rs202093309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	817					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			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)			CATTCCACTGCGGTACATCAT	0.408																																						ENST00000357742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2449-2451)Cgg>Tgg		multiple C2 domains, transmembrane 2		C	TRP/ARG,TRP/ARG	0,4394		0,0,2197	173.0	162.0	166.0		2284,2449	5.3	1.0	15		166	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	MCTP2	NM_001159643.1,NM_018349.3	101,101	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	762/824,817/879	95013650	1,12989	2197	4298	6495	SO:0001583	missense	55784	14	121412	45				g.chr15:95013650C>T	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.2449C>T	chr15.hg19:g.95013650C>T	ENSP00000350377:p.Arg817Trp	0					MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	p.R817W	NM_018349.3	NP_060819.3	0	1	1	1.986442	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)	20	2449	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	1	1	hg19	c.2449C>T	CCDS32338.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052804	0.75960	0.0	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.78003	-1.14;-0.56	5.32	5.32	0.75619	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	12.5357	0.56140	0.2773:0.7227:0.0:0.0	.	762;817	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	762;817	ENSP00000395109:R762W;ENSP00000350377:R817W	ENSP00000350377:R817W	R	+	1	2	2	MCTP2	92814654	92814654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.820000	0.55693	2.645000	0.89757	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-6.143841	1	0.170000	NM_018349			88	85		496	487	1		1	1		0	0	102	0		1	9.619974e-01	0	12	0	20	0	88	496
NR2F2	7026	broad.mit.edu	37	15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000421109.2_Intron|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	73	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697																																						ENST00000394166.3	1.000000	0.820000	1	9.900000e-01	0.990000	0.989348	0.990000	1.000000																										0				17						c.(217-219)caG>caT		nuclear receptor subfamily 2, group F, member 2							24.0	19.0	21.0					15																	96875553		2192	4295	6487	SO:0001583	missense	7026	1	121246	23				g.chr15:96875553G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.219G>T	chr15.hg19:g.96875553G>T	ENSP00000377721:p.Gln73His	0					NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank	p.Q73H	NM_021005.3	NP_066285.1	0	1	1	1.986442	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)	1	1608	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	0	1	hg19	c.219G>T	CCDS10375.1	1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054866	0.19907	.	.	ENSG00000185551	ENST00000394166	D	0.93604	-3.25	4.53	-0.248	0.13015	4.53	-0.248	0.13015	Zinc finger, NHR/GATA-type (1);	0.234402	0.30277	N	0.009992	D	0.83954	0.5366	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.35550	0.205	T	0.78262	-0.2272	10	0.44086	T	0.13	.	10.2126	0.43150	0.3553:0.0:0.6447:0.0	.	73	P24468	COT2_HUMAN	H	73	ENSP00000377721:Q73H	ENSP00000377721:Q73H	Q	+	3	2	2	NR2F2	94676557	94676557	.	.	0.995000	0.50966	0.297000	0.27493	.	.	0.041000	0.15688	-0.379000	0.06801	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-17.179070	1	0.170000				9	9		52	50	0		1	1		0	0	9	0		9.946333e-01	9.990026e-01	0	7	0	75	0	9	52
ARRDC4	91947	broad.mit.edu	37	15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	106					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308																																						ENST00000268042.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(316-318)Atc>Gtc		arrestin domain containing 4							114.0	117.0	116.0					15																	98508838		2197	4298	6495	SO:0001583	missense	91947	0	0					g.chr15:98508838A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.316A>G	chr15.hg19:g.98508838A>G	ENSP00000268042:p.Ile106Val	0					ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	p.I106V	NM_183376.2	NP_899232.2	0	1	1	1.986442	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)	2	480	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	1	1	hg19	c.316A>G	CCDS10377.1	1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075076	0.08485	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.12984	2.63;3.34	5.81	-1.79	0.07932	5.81	-1.79	0.07932	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.240820	0.01691	N	0.026654	T	0.06600	0.0169	N	0.11927	0.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22556	-1.0213	10	0.11485	T	0.65	-10.3062	2.6754	0.05080	0.3704:0.1052:0.3795:0.1449	.	106;19	Q8NCT1;F5H824	ARRD4_HUMAN;.	V	19;106	ENSP00000443774:I19V;ENSP00000268042:I106V	ENSP00000268042:I106V	I	+	1	0	0	ARRDC4	96309842	96309842	0.066000	0.20996	0.015000	0.15790	0.964000	0.63967	-0.056000	0.11787	-0.328000	0.08539	0.455000	0.32223	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_183376			73	72		337	330	1		1	1		0	0	100	0		1	9.768747e-01	0	6	0	24	0	73	337
ARRDC4	91947	broad.mit.edu	37	15	98513913	98513913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	380					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418																																						ENST00000268042.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1138-1140)tgC>tgT		arrestin domain containing 4							122.0	102.0	108.0					15																	98513913		2197	4298	6495	SO:0001819	synonymous_variant	91947	0	0					g.chr15:98513913C>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1140C>T	chr15.hg19:g.98513913C>T		0					ARRDC4_ENST00000538249.1_Silent_p.C293C	p.C380C	NM_183376.2	NP_899232.2	0	1	1	1.986442	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)	7	1304	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		Q6NSI9	Silent	SNP	ENST00000268042.6	1	1	hg19	c.1140C>T	CCDS10377.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_183376			76	75		355	351	1		1	1		0	0	68	0		1	9.999989e-01	0	19	0	75	0	76	355
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T	rs553386234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383													C|||	5	0.000998403	0.0	0.0	5008	,	,		22898	0.0		0.0	False		,,,				2504	0.0051					ENST00000558256.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				7						c.(49-51)Gcc>Acc		family with sequence similarity 169, member B							86.0	83.0	84.0					15																	99023964		1867	4094	5961	SO:0001583	missense	283777	79	120822	47				g.chr15:99023964C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.49G>A	chr15.hg19:g.99023964C>T	ENSP00000453554:p.Ala17Thr	0					FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	p.A17T	NM_182562.2	NP_872368.2	0	1	1	1.986442	Q8N8A8	F169B_HUMAN		4	298	-			B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	1	1	hg19	c.49G>A	CCDS45360.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291580	0.23564	.	.	ENSG00000185087	ENST00000332908	T	0.71817	-0.6	5.27	2.1	0.27182	5.27	2.1	0.27182	.	0.694331	0.13929	N	0.353052	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16070	-1.0415	10	0.17369	T	0.5	-6.2819	2.9599	0.05889	0.3016:0.4772:0.1264:0.0949	.	17	Q8N8A8	F169B_HUMAN	T	17	ENSP00000332615:A17T	ENSP00000332615:A17T	A	-	1	0	0	FAM169B	96841487	96841487	0.982000	0.34865	0.113000	0.21522	0.798000	0.45092	1.370000	0.34238	1.180000	0.42898	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.242035	1	0.170000	NM_182562			39	39		210	206	1		1	0		0	0	46	0		1	2.592803e-02	0	0	0	2	0	39	210
IGF1R	3480	broad.mit.edu	37	15	99456414	99456414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000268035.6	+	8	2342	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000558762.1_Silent_p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	577	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)"""	GGACTCAGTACGCCGTTTACG	0.572																																						ENST00000268035.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				63						c.(1729-1731)taC>taT		insulin-like growth factor 1 receptor	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						140.0	98.0	112.0					15																	99456414		2197	4297	6494	SO:0001819	synonymous_variant	3480	1	121412	33				g.chr15:99456414C>T	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.1731C>T	chr15.hg19:g.99456414C>T		0					IGF1R_ENST00000558762.1_Silent_p.Y577Y	p.Y577Y	NM_000875.3	NP_000866.1	0	1	1	1.986442	P08069	IGF1R_HUMAN	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)	8	2342	+	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)		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	1	1	hg19	c.1731C>T	CCDS10378.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_000875			54	54		309	300	1		1	0		0	0	92	0		1	9.008891e-01	0	0	0	25	0	54	309
IGF1R	3480	broad.mit.edu	37	15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000268035.6	+	11	3015	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	802	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)"""	GTACCGCATCGATATCCACAG	0.517																																						ENST00000268035.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2404-2406)Gat>Aat		insulin-like growth factor 1 receptor	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						109.0	108.0	108.0					15																	99465579		2197	4297	6494	SO:0001583	missense	3480	0	0					g.chr15:99465579G>A	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.2404G>A	chr15.hg19:g.99465579G>A	ENSP00000268035:p.Asp802Asn	0					IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	p.D802N	NM_000875.3	NP_000866.1	0	1	1	1.986442	P08069	IGF1R_HUMAN	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)	11	3015	+	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)		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	1	1	hg19	c.2404G>A	CCDS10378.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.438773	0.96168	.	.	ENSG00000140443	ENST00000268035	T	0.76448	-1.02	5.5	5.5	0.81552	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.88672	0.6500	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.48	D;B	0.97110	1.0;0.048	D	0.88542	0.3110	10	0.51188	T	0.08	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	802;802	C9J5X1;P08069	.;IGF1R_HUMAN	N	802	ENSP00000268035:D802N	ENSP00000268035:D802N	D	+	1	0	0	IGF1R	97283102	97283102	1.000000	0.71417	0.953000	0.39169	0.880000	0.50808	9.848000	0.99507	2.567000	0.86603	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.288765	1	0.170000	NM_000875			72	72		301	295	1		1	1		0	0	96	0		1	9.910759e-01	0	2	0	31	0	72	301
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	rs541998637		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					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)			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)"""	CGCTCTGCCCGTCGCTGTCCT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.0					ENST00000268035.6	1.000000	0.680000	1	8.000000e-01	0.930000	0.912536	0.930000	1.000000																										0				63						c.(2824-2826)Gtc>Atc		insulin-like growth factor 1 receptor	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						219.0	192.0	201.0					15																	99472828		2197	4297	6494	SO:0001583	missense	3480	2	121412	35				g.chr15:99472828G>A	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.2824G>A	chr15.hg19:g.99472828G>A	ENSP00000268035:p.Val942Ile	0					IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	p.V942I	NM_000875.3	NP_000866.1	0	1	1	1.986442	P08069	IGF1R_HUMAN	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)	14	3435	+	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)		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	1	1	hg19	c.2824G>A	CCDS10378.1	1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	0	IGF1R	97290351	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-10.419190	1	0.170000	NM_000875			39	38		448	443	0		1	1		0	0	79	0		1	8.287026e-01	0	2	0	37	0	39	448
IGF1R	3480	broad.mit.edu	37	15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000268035.6	+	21	4707	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1366					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)			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)"""	CCAGTCTTCGACCTGCTGATC	0.612																																						ENST00000268035.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(4096-4098)Acc>Gcc		insulin-like growth factor 1 receptor	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"																																			SO:0001583	missense	3480	0	0					g.chr15:99500663A>G	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.4096A>G	chr15.hg19:g.99500663A>G	ENSP00000268035:p.Thr1366Ala	0					IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	p.T1366A	NM_000875.3	NP_000866.1	0	1	1	1.986442	P08069	IGF1R_HUMAN	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)	21	4707	+	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)		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	1	1	hg19	c.4096A>G	CCDS10378.1	1	.	.	.	.	.	.	.	.	.	.	A	7.662	0.685143	0.14973	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.67	4.55	0.56014	5.67	4.55	0.56014	.	0.101038	0.41396	D	0.000887	T	0.24812	0.0602	N	0.00237	-1.79	0.42249	D	0.991965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47156	-0.9139	10	0.02654	T	1	.	3.2816	0.06917	0.6614:0.0:0.3386:0.0	.	1365;1366	C9J5X1;P08069	.;IGF1R_HUMAN	A	1366	ENSP00000268035:T1366A	ENSP00000268035:T1366A	T	+	1	0	0	IGF1R	97318186	97318186	1.000000	0.71417	0.923000	0.36655	0.965000	0.64279	7.583000	0.82559	2.159000	0.67721	0.455000	0.32223	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_000875			61	60		275	271	1		1	0		0	0	55	0		1	9.750036e-01	0	1	0	28	0	61	275
PGPEP1L	145814	broad.mit.edu	37	15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000378919.6	-	5	746	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A127T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	181							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537																																						ENST00000378919.6	1.000000	0.930000	1	9.900000e-01	0.990000	0.995732	0.990000	1.000000																										0				14						c.(541-543)Gcc>Acc		pyroglutamyl-peptidase I-like							56.0	56.0	56.0					15																	99511757		1930	4123	6053	SO:0001583	missense	145814	0	0					g.chr15:99511757C>T		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.541G>A	chr15.hg19:g.99511757C>T	ENSP00000368199:p.Ala181Thr	0					PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A127T|RP11-654A16.3_ENST00000559468.1_RNA	p.A181T	NM_001102612.2	NP_001096082.2	0	1	1	1.986442	A6NFU8	PGPIL_HUMAN		5	746	-			H0YF86	Missense_Mutation	SNP	ENST00000378919.6	0	1	hg19	c.541G>A	CCDS53977.1	1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174029	0.21704	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.31769	1.48	5.39	3.52	0.40303	5.39	3.52	0.40303	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.31943	-0.9925	9	0.12430	T	0.62	.	7.48	0.27400	0.0:0.7385:0.0:0.2615	.	181	A6NFU8	PGPIL_HUMAN	T	181;174	ENSP00000368199:A181T	ENSP00000368199:A181T	A	-	1	0	0	PGPEP1L	97329280	97329280	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.273000	0.18662	0.669000	0.31146	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999980	1	0.170000	NM_001102612.2			15	14		94	93	1		1			0	0	12	0		9.998987e-01	0	0	0	0	0	0	15	94
SYNM	23336	broad.mit.edu	37	15	99666928	99666928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000560674.1	+	3	548	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Splice_Site_p.A312T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Splice_Site_p.A312T			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	313	Coil 1A.|Interaction with DMD and UTRN.|Rod.				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)			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						TTTTTACAGGGCCTTATTGGA	0.388																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000560674.1	1.000000	0.430000	1	7.400000e-01	0.990000	0.909533	0.990000	1.000000																										0				29						c.(79-81)Gcc>Acc		synemin, intermediate filament protein							86.0	82.0	83.0					15																	99666928		1836	4097	5933	SO:0001630	splice_region_variant	23336	0	0					g.chr15:99666928G>A	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.78-1G>A	chr15.hg19:g.99666928G>A		0					SYNM_ENST00000336292.6_Splice_Site_p.A312T|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Splice_Site_p.A312T|RP11-6O2.4_ENST00000566974.1_RNA	p.A27T			0	1	1	1.986442	O15061	SYNEM_HUMAN		3	548	+			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Splice_Site	SNP	ENST00000560674.1	0	1	hg19	c.79G>A		1	.	.	.	.	.	.	.	.	.	.	G	34	5.325606	0.95708	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.88664	-2.41;-2.41	5.83	5.83	0.93111	5.83	5.83	0.93111	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95040	0.8394	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.939	D	0.95146	0.8268	8	0.87932	D	0	.	18.6976	0.91607	0.0:0.0:1.0:0.0	.	313;312	O15061;C9JIE4	SYNEM_HUMAN;.	T	312	ENSP00000336775:A312T;ENSP00000330469:A312T	ENSP00000330469:A312T	A	+	1	0	0	SYNM	97484451	97484451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-9.361537	1	0.170000	NM_145728	Missense_Mutation		4	3		34	32	0		1	1		0	0	9	0		8.736085e-01	5.980560e-01	0	4	0	13	0	4	34
SYNM	23336	broad.mit.edu	37	15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000560674.1	+	4	1394	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G594S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	595	Interaction with DMD and UTRN.|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)			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						GTCCCCGAAAGGTTTGCAGAC	0.557																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000560674.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(925-927)Ggt>Agt		synemin, intermediate filament protein							71.0	72.0	72.0					15																	99670348		2005	4177	6182	SO:0001583	missense	23336	0	0					g.chr15:99670348G>A	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.925G>A	chr15.hg19:g.99670348G>A	ENSP00000453040:p.Gly309Ser	0					SYNM_ENST00000336292.6_Missense_Mutation_p.G594S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|RP11-6O2.4_ENST00000566974.1_RNA	p.G309S			0	1	1	1.986442	O15061	SYNEM_HUMAN		4	1394	+			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	1	1	hg19	c.925G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823962	0.32237	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.30981	1.51;1.51	5.76	1.73	0.24493	5.76	1.73	0.24493	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.22152	0.032;0.038	T	0.21348	-1.0248	8	0.31617	T	0.26	.	5.3931	0.16255	0.2965:0.1425:0.5611:0.0	.	595;594	O15061;C9JIE4	SYNEM_HUMAN;.	S	594	ENSP00000336775:G594S;ENSP00000330469:G594S	ENSP00000330469:G594S	G	+	1	0	0	SYNM	97487871	97487871	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.596000	0.24044	0.341000	0.23771	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.151940	1	0.170000	NM_145728			50	50		273	264	1		1	1		0	0	75	0		1	9.543680e-01	0	10	0	20	0	50	273
SYNM	23336	broad.mit.edu	37	15	99672987	99672987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000560674.1	+	5	3097	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.S1473S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.S1161S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1474	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)			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						CGATCCGCAGCCGGACACAGG	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000560674.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2626-2628)agC>agT		synemin, intermediate filament protein							159.0	168.0	165.0					15																	99672987		2053	4183	6236	SO:0001819	synonymous_variant	23336	0	0					g.chr15:99672987C>T	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.2628C>T	chr15.hg19:g.99672987C>T		0					SYNM_ENST00000336292.6_Silent_p.S1473S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.S1161S|RP11-6O2.4_ENST00000566974.1_RNA	p.S876S			0	1	1	1.986442	O15061	SYNEM_HUMAN		5	3097	+			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	1	1	hg19	c.2628C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	1		2	2	2	0		0	0	197		197	194	1	2.060000	-20.000000	1	0.170000	NM_145728			167	165		962	934	1		1	1		0	0	197	0		1	9.478252e-01	0	5	0	25	0	167	962
TTC23	64927	broad.mit.edu	37	15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	236										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463																																						ENST00000394132.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(706-708)Ggt>Agt		tetratricopeptide repeat domain 23							274.0	241.0	252.0					15																	99740177		2197	4297	6494	SO:0001583	missense	64927	0	0					g.chr15:99740177C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.706G>A	chr15.hg19:g.99740177C>T	ENSP00000377690:p.Gly236Ser	0					TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S	p.G236S			0	1	1	1.986442	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)	9	1523	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	1	1	hg19	c.706G>A	CCDS10379.2	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808939	0.90707	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.75704	2.57;2.57;2.57;2.57;0.03;-0.96	5.87	3.98	0.46160	5.87	3.98	0.46160	Tetratricopeptide-like helical (1);	0.299368	0.36740	N	0.002439	T	0.66436	0.2789	L	0.60455	1.87	0.09310	N	1	B;P	0.48294	0.291;0.908	B;P	0.44422	0.073;0.449	T	0.57087	-0.7871	10	0.07644	T	0.81	-3.1979	8.012	0.30359	0.1572:0.7622:0.0:0.0806	.	236;236	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	S	236	ENSP00000377690:G236S;ENSP00000377693:G236S;ENSP00000262074:G236S;ENSP00000377692:G236S;ENSP00000377688:G236S;ENSP00000457901:G236S	ENSP00000262074:G236S	G	-	1	0	0	TTC23	97557700	97557700	0.024000	0.19004	0.015000	0.15790	0.984000	0.73092	2.426000	0.44731	0.922000	0.37019	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.368756	1	0.170000	NM_022905			105	105		481	476	1		1	1		0	0	118	0		1	9.996432e-01	0	17	0	38	0	105	481
TARSL2	123283	broad.mit.edu	37	15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	243					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448																																						ENST00000335968.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				29						c.(727-729)gCc>gTc		threonyl-tRNA synthetase-like 2							81.0	68.0	73.0					15																	102252167		2203	4300	6503	SO:0001583	missense	123283	0	0					g.chr15:102252167G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.728C>T	chr15.hg19:g.102252167G>A	ENSP00000338093:p.Ala243Val	0						p.A243V	NM_152334.2	NP_689547.2	0	1	1	1.986442	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	5	944	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	1	1	hg19	c.728C>T	CCDS10394.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.24538	1.85;1.85	5.38	5.38	0.77491	5.38	5.38	0.77491	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.050606	0.85682	D	0.000000	T	0.54886	0.1886	M	0.93854	3.465	0.80722	D	1	P	0.51240	0.943	P	0.53224	0.721	T	0.68085	-0.5502	10	0.72032	D	0.01	-13.9248	16.6349	0.85050	0.0:0.0:1.0:0.0	.	243	A2RTX5	SYTC2_HUMAN	V	243	ENSP00000338093:A243V;ENSP00000439899:A243V	ENSP00000338093:A243V	A	-	2	0	0	TARSL2	100069690	100069690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.552000	0.98115	2.528000	0.85240	0.530000	0.56133	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-3.513256	1	0.170000	NM_152334			30	30		131	128	1		1	1		0	0	34	0		1	9.970285e-01	0	14	0	29	0	30	131
SOX8	30812	broad.mit.edu	37	16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	273					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697																																						ENST00000293894.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(817-819)Gtc>Atc		SRY (sex determining region Y)-box 8							39.0	37.0	37.0					16																	1034862		2199	4297	6496	SO:0001583	missense	30812	0	0					g.chr16:1034862G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.817G>A	chr16.hg19:g.1034862G>A	ENSP00000293894:p.Val273Ile	0						p.V273I	NM_014587.3	NP_055402.2	1	2	3	2.056757	P57073	SOX8_HUMAN		3	932	+		Hepatocellular(780;0.00308)	Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	1	1	hg19	c.817G>A	CCDS10428.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.054954	0.93793	.	.	ENSG00000005513	ENST00000293894	T	0.80123	-1.34	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89163	3.01	0.58432	D	0.999999	D	0.61080	0.989	D	0.64410	0.925	D	0.91694	0.5368	10	0.52906	T	0.07	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	273	P57073	SOX8_HUMAN	I	273	ENSP00000293894:V273I	ENSP00000293894:V273I	V	+	1	0	0	SOX8	974863	974863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.309000	0.77851	0.650000	0.86243	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				49	49		199	199	0		1	0		0	0	52	0		1	4.063745e-02	0	1	0	1	0	49	199
SOX8	30812	broad.mit.edu	37	16	1034993	1034993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	ENST00000293894.3	+	3	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	316					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCCGTGTGGGCCCACAAGA	0.756																																						ENST00000293894.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				10						c.(946-948)tgG>tgT		SRY (sex determining region Y)-box 8							6.0	8.0	7.0					16																	1034993		2047	4058	6105	SO:0001583	missense	30812	0	0					g.chr16:1034993G>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.948G>T	chr16.hg19:g.1034993G>T	ENSP00000293894:p.Trp316Cys	0						p.W316C	NM_014587.3	NP_055402.2	1	2	3	2.056757	P57073	SOX8_HUMAN		3	1063	+		Hepatocellular(780;0.00308)	Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	1	1	hg19	c.948G>T	CCDS10428.1	1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057114	0.36277	.	.	ENSG00000005513	ENST00000293894	T	0.75938	-0.98	4.31	3.36	0.38483	4.31	3.36	0.38483	.	0.116020	0.64402	D	0.000006	D	0.87059	0.6083	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87194	0.2236	10	0.62326	D	0.03	.	8.6232	0.33872	0.0871:0.1533:0.7596:0.0	.	316	P57073	SOX8_HUMAN	C	316	ENSP00000293894:W316C	ENSP00000293894:W316C	W	+	3	0	0	SOX8	974994	974994	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	4.104000	0.57790	1.045000	0.40225	0.650000	0.86243	TGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				18	18		63	62	0		1	0		0	0	14	0		9.999913e-01	0	0	0	0	1	0	18	63
SOX8	30812	broad.mit.edu	37	16	1035032	1035032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	329					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751																																						ENST00000293894.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				10						c.(985-987)acC>acT		SRY (sex determining region Y)-box 8							4.0	5.0	5.0					16																	1035032		1823	3784	5607	SO:0001819	synonymous_variant	30812	4	113532	27				g.chr16:1035032C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.987C>T	chr16.hg19:g.1035032C>T		0						p.T329T	NM_014587.3	NP_055402.2	1	2	3	2.056757	P57073	SOX8_HUMAN		3	1102	+		Hepatocellular(780;0.00308)	Q9NZW2	Silent	SNP	ENST00000293894.3	0	1	hg19	c.987C>T	CCDS10428.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000				18	18		71	70	0		1			0	0	11	0		9.999905e-01	0	0	0	0	0	0	18	71
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333																																						ENST00000396560.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(1039-1041)cGc>cAc		activating transcription factor 7 interacting protein 2							138.0	136.0	137.0					16																	10532037		2197	4300	6497	SO:0001583	missense	80063	2	121412	35				g.chr16:10532037G>A	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.1040G>A	chr16.hg19:g.10532037G>A	ENSP00000379808:p.Arg347His	0					ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron	p.R347H	NM_024997.3	NP_079273.2	1	2	3	2.056757	Q5U623	MCAF2_HUMAN		5	1267	+			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	1	1	hg19	c.1040G>A	CCDS10540.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	0	ATF7IP2	10439538	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_024997			92	91		392	386	1		1	0		0	0	87	0		1	2.456058e-01	0	1	0	4	0	92	392
RHBDF1	64285	broad.mit.edu	37	16	108725	108725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	728					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647																																						ENST00000262316.6	1.000000	0.710000	1	9.300000e-01	0.990000	0.969355	0.990000	1.000000																										0				18						c.(2182-2184)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							20.0	24.0	23.0					16																	108725		2202	4299	6501	SO:0001583	missense	64285	0	0					g.chr16:108725C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2182G>A	chr16.hg19:g.108725C>T	ENSP00000262316:p.Ala728Thr	0						p.A728T	NM_022450.3	NP_071895.3	1	2	3	2.056757	Q96CC6	RHDF1_HUMAN		18	2324	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	1	1	hg19	c.2182G>A	CCDS32344.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	30|30	5.049882|5.049882	0.93740|0.93740	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000262316|ENST00000448893	T|.	0.12984|.	2.63|.	5.16|5.16	5.16|5.16	0.70880|0.70880	5.16|5.16	5.16|5.16	0.70880|0.70880	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84960|.	0.5588|.	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.87865|.	0.2667|.	10|.	0.87932|.	D|.	0|.	-34.8431|-34.8431	17.997|17.997	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	728|.	Q96CC6|.	RHDF1_HUMAN|.	T|X	728|104	ENSP00000262316:A728T|.	ENSP00000262316:A728T|.	A|W	-|-	1|3	0|0	0|0	RHBDF1|RHBDF1	48725|48725	48725|48725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.945000|5.945000	0.70226|0.70226	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCC|TGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-19.999170	1	0.170000	NM_022450			16	16		151	147	1		1	1		0	0	32	0		9.999364e-01	9.998889e-01	0	25	0	125	0	16	151
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	254						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542																																						ENST00000283025.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(760-762)Gaa>Aaa		tektin 5							242.0	194.0	210.0					16																	10775953		2197	4300	6497	SO:0001583	missense	146279	5	121412	40				g.chr16:10775953C>T		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.760G>A	chr16.hg19:g.10775953C>T	ENSP00000283025:p.Glu254Lys	0						p.E254K	NM_144674.1	NP_653275.1	1	2	3	2.056757	Q96M29	TEKT5_HUMAN		4	831	-			A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	1	1	hg19	c.760G>A	CCDS10542.1	1	.	.	.	.	.	.	.	.	.	.	C	6.681	0.494159	0.12702	.	.	ENSG00000153060	ENST00000283025	T	0.02280	4.36	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.239661	0.28865	N	0.013890	T	0.01254	0.0041	N	0.04203	-0.255	0.30759	N	0.74427	B	0.17852	0.024	B	0.17722	0.019	T	0.34428	-0.9829	10	0.27082	T	0.32	-34.5828	6.6583	0.23000	0.1787:0.7307:0.0:0.0906	.	254	Q96M29	TEKT5_HUMAN	K	254	ENSP00000283025:E254K	ENSP00000283025:E254K	E	-	1	0	0	TEKT5	10683454	10683454	0.307000	0.24500	0.915000	0.36163	0.004000	0.04260	0.882000	0.28186	2.331000	0.79229	0.655000	0.94253	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_144674			153	151		615	601	1		1	0		0	0	133	0		1	0	0	0	0	1	0	153	615
CIITA	4261	broad.mit.edu	37	16	10996534	10996534	+	Silent	SNP	G	G	A	rs374843831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000381835.5_Silent_p.S167S|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					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)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""				L	L	FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6		PMBL, Hodgkin Lymphona, 		0				12						c.(646-648)tcG>tcA		class II, major histocompatibility complex, transactivator		G		3,4391	6.2+/-15.9	0,3,2194	145.0	114.0	124.0		648	-6.8	0.0	16		124	0,8600		0,0,4300	no	coding-synonymous	CIITA	NM_000246.3		0,3,6494	AA,AG,GG		0.0,0.0683,0.0231		216/1131	10996534	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	4261	5	121412	42				g.chr16:10996534G>A	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.648G>A	chr16.hg19:g.10996534G>A		0					CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	p.S216S	NM_000246.3	NP_000237	1	2	3	2.056757	P33076	C2TA_HUMAN		8	781	+			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	1	1	hg19	c.648G>A	CCDS10544.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.601941	1	0.170000	NM_000246			71	71		288	281	1		1	1		0	0	58	0		1	9.999363e-01	0	4	0	56	0	71	288
CLEC16A	23274	broad.mit.edu	37	16	11066877	11066877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											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						TCATTGGGAGCCATGTGATCG	0.488																																						ENST00000409790.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				37						c.(685-687)agC>agT		C-type lectin domain family 16, member A							79.0	77.0	77.0					16																	11066877		1967	4164	6131	SO:0001819	synonymous_variant	23274	0	0					g.chr16:11066877C>T	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.687C>T	chr16.hg19:g.11066877C>T		0					CLEC16A_ENST00000409552.3_Silent_p.S227S	p.S229S	NM_015226.2	NP_056041.1	1	2	3	2.056757				7	917	+				Silent	SNP	ENST00000409790.1	1	1	hg19	c.687C>T	CCDS45409.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-14.157080	1	0.170000	NM_015226			17	17		59	59	1		1	1		0	0	15	0		9.999844e-01	9.947928e-01	0	14	0	20	0	17	59
CLEC16A	23274	broad.mit.edu	37	16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									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						GAAAAGCGCCGCCGCCACCTG	0.617																																						ENST00000409790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	37						c.(1402-1404)Gcc>Acc		C-type lectin domain family 16, member A							21.0	26.0	24.0					16																	11114148		2004	4173	6177	SO:0001583	missense	23274	1	120898	27				g.chr16:11114148G>A	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.1402G>A	chr16.hg19:g.11114148G>A	ENSP00000387122:p.Ala468Thr	0					CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	p.A468T	NM_015226.2	NP_056041.1	1	2	3	2.056757				12	1632	+				Missense_Mutation	SNP	ENST00000409790.1	1	1	hg19	c.1402G>A	CCDS45409.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655504	0.67586	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47177	0.85	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.56486	-0.7971	10	0.14656	T	0.56	-18.8815	14.6545	0.68823	0.0:0.0:1.0:0.0	.	468;450	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	468;468;450	ENSP00000387122:A468T	ENSP00000386495:A450T	A	+	1	0	0	CLEC16A	11021649	11021649	1.000000	0.71417	0.303000	0.25071	0.018000	0.09664	7.199000	0.77831	2.521000	0.84997	0.555000	0.69702	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.697720	1	0.170000	NM_015226			29	29		109	107	1		1	1		0	0	25	0		1	9.995981e-01	0	17	0	33	0	29	109
RHBDF1	64285	broad.mit.edu	37	16	112988	112988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	219					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701																																						ENST00000262316.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(655-657)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							21.0	28.0	26.0					16																	112988		2198	4294	6492	SO:0001583	missense	64285	0	0					g.chr16:112988C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.655G>A	chr16.hg19:g.112988C>T	ENSP00000262316:p.Ala219Thr	0					RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	p.A219T	NM_022450.3	NP_071895.3	1	2	3	2.056757	Q96CC6	RHDF1_HUMAN		5	797	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	1	1	hg19	c.655G>A	CCDS32344.1	1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139759	0.56936	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70164	-0.46;-0.46	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.46157	1.445	0.80722	D	1	P;P;P	0.48162	0.778;0.906;0.529	B;P;B	0.49561	0.374;0.615;0.361	T	0.65471	-0.6160	10	0.27082	T	0.32	-12.3562	17.0258	0.86446	0.0:1.0:0.0:0.0	.	219;242;219	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	T	219	ENSP00000262316:A219T;ENSP00000392133:A219T	ENSP00000262316:A219T	A	-	1	0	0	RHBDF1	52988	52988	1.000000	0.71417	0.111000	0.21465	0.256000	0.26092	7.748000	0.85085	2.243000	0.73865	0.462000	0.41574	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_022450			43	43		158	152	1		1	1		0	0	21	0		1	9.999853e-01	0	21	0	45	0	43	158
RHBDF1	64285	broad.mit.edu	37	16	113124	113124	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	173					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682																																						ENST00000262316.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998441	0.990000	1.000000																										0				18						c.(517-519)gaA>gaG		rhomboid 5 homolog 1 (Drosophila)							39.0	39.0	39.0					16																	113124		2183	4274	6457	SO:0001819	synonymous_variant	64285	0	0					g.chr16:113124T>C	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.519A>G	chr16.hg19:g.113124T>C		0					RHBDF1_ENST00000454039.2_Silent_p.E173E	p.E173E	NM_022450.3	NP_071895.3	1	2	3	2.056757	Q96CC6	RHDF1_HUMAN		5	661	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	0	1	hg19	c.519A>G	CCDS32344.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.998990	1	0.170000	NM_022450			13	13		71	70	1		1	1		0	0	10	0		9.996538e-01	9.997495e-01	0	31	0	56	0	13	71
SSTR5	6755	broad.mit.edu	37	16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A	rs200422161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	113					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R113H(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCCTGTGCCGCCTGGTCATG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15183	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4	1.000000	0.750000	1	9.100000e-01	0.990000	0.968836	0.990000	1.000000																										1	Substitution - Missense(1)	p.R113H(1)	endometrium(1)	9						c.(337-339)cGc>cAc		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)						56.0	50.0	52.0					16																	1129206		2194	4297	6491	SO:0001583	missense	6755	5	120708	38				g.chr16:1129206G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.338G>A	chr16.hg19:g.1129206G>A	ENSP00000293897:p.Arg113His	0					SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5-AS1_ENST00000569832.1_RNA	p.R113H	NM_001053.3	NP_001044.1	1	2	3	2.056757	P35346	SSR5_HUMAN		1	426	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	0	1	hg19	c.338G>A	CCDS10429.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.1	4.705785	0.89018	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19532	2.14;2.14	4.87	4.87	0.63330	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.069740	0.56097	D	0.000032	T	0.37972	0.1023	L	0.54863	1.705	0.48696	D	0.999693	D	0.60160	0.987	P	0.57846	0.828	T	0.17107	-1.0380	10	0.62326	D	0.03	.	16.9817	0.86329	0.0:0.0:1.0:0.0	.	113	P35346	SSR5_HUMAN	H	113	ENSP00000380680:R113H;ENSP00000293897:R113H	ENSP00000293897:R113H	R	+	2	0	0	SSTR5	1069207	1069207	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.360000	0.66086	2.260000	0.74910	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	1		20	2	2	1		1	1	52		52	51	1	2.060000	-20.000000	1	0.170000				30	28		307	306	0		1	0		1	0	52	0		9.425926e-01	8.606628e-03	0	0	0	2	0	30	307
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T	rs375313304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13414	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(547-549)ggC>ggT		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	C	,	4,4340		0,4,2168	19.0	23.0	22.0		549,549	1.3	1.0	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC		0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant	6755	13	119952	36				g.chr16:1129417C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	chr16.hg19:g.1129417C>T		0					SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5-AS1_ENST00000569832.1_RNA	p.G183G	NM_001053.3	NP_001044.1	1	2	3	2.056757	P35346	SSR5_HUMAN		1	637	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	1	1	hg19	c.549C>T	CCDS10429.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000				31	31		108	107	1		1			0	0	13	0		1	0	0	0	0	0	0	31	108
SSTR5	6755	broad.mit.edu	37	16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	205					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTACACGGCCGTGCTG	0.697																																						ENST00000293897.4	1.000000	0.380000	1	5.500000e-01	0.800000	0.787718	0.800000	1.000000																										0				9						c.(613-615)aCg>aTg		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)						40.0	42.0	42.0					16																	1129482		2183	4294	6477	SO:0001583	missense	6755	0	0					g.chr16:1129482C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.614C>T	chr16.hg19:g.1129482C>T	ENSP00000293897:p.Thr205Met	0					SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5-AS1_ENST00000569832.1_RNA	p.T205M	NM_001053.3	NP_001044.1	1	2	3	2.056757	P35346	SSR5_HUMAN		1	702	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	0	1	hg19	c.614C>T	CCDS10429.1	0	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563140	0.45694	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.72615	-0.67;-0.67	4.76	4.76	0.60689	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.71871	2.18	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.84967	0.0880	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:1.0:0.0:0.0	.	205	P35346	SSR5_HUMAN	M	205	ENSP00000380680:T205M;ENSP00000293897:T205M	ENSP00000293897:T205M	T	+	2	0	0	SSTR5	1069483	1069483	1.000000	0.71417	0.968000	0.41197	0.391000	0.30476	7.602000	0.82796	2.202000	0.70862	0.561000	0.74099	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0		2	2	2	0		0	0	20		20	18	1	2.060000	-5.109055	1	0.170000				9	9		141	140	0		1	0		0	0	20	0		9.945021e-01	0	0	1	0	0	0	9	141
SSTR5	6755	broad.mit.edu	37	16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	281					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAGGAGCCCGCCTCCGCCGG	0.627																																						ENST00000293897.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(841-843)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)						88.0	93.0	91.0					16																	1129709		2194	4297	6491	SO:0001583	missense	6755	4	120710	35				g.chr16:1129709G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.841G>A	chr16.hg19:g.1129709G>A	ENSP00000293897:p.Ala281Thr	0					SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	p.A281T	NM_001053.3	NP_001044.1	1	2	3	2.056757	P35346	SSR5_HUMAN		1	929	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	1	1	hg19	c.841G>A	CCDS10429.1	1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314254	0.05422	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	1.62	0.23740	4.76	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.594342	0.17596	N	0.168594	T	0.47820	0.1466	N	0.16602	0.42	0.18873	N	0.999989	B	0.18166	0.026	B	0.21917	0.037	T	0.24440	-1.0160	10	0.18710	T	0.47	.	5.5565	0.17119	0.1766:0.0:0.6637:0.1597	.	281	P35346	SSR5_HUMAN	T	281	ENSP00000380680:A281T;ENSP00000293897:A281T	ENSP00000293897:A281T	A	+	1	0	0	SSTR5	1069710	1069710	0.248000	0.23930	0.861000	0.33841	0.064000	0.16182	3.106000	0.50322	0.401000	0.25424	-0.314000	0.08810	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.701565	1	0.170000				87	86		341	337	0		1			0	0	46	0		1	0	0	0	0	0	0	87	341
SSTR5	6755	broad.mit.edu	37	16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	353					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCGCACCGCGCCGCAGCCAAC	0.711																																						ENST00000293897.4	1.000000	0.530000	1	7.600000e-01	0.990000	0.917485	0.990000	1.000000																										0				9						c.(1057-1059)gCc>gTc		somatostatin receptor 5	Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)						13.0	13.0	13.0					16																	1129926		2161	4257	6418	SO:0001583	missense	6755	0	0					g.chr16:1129926C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1058C>T	chr16.hg19:g.1129926C>T	ENSP00000293897:p.Ala353Val	0					SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	p.A353V	NM_001053.3	NP_001044.1	1	2	3	2.056757	P35346	SSR5_HUMAN		1	1146	+		Hepatocellular(780;0.00369)	P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	0	1	hg19	c.1058C>T	CCDS10429.1	1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746364	0.30955	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	2.77	0.32553	4.76	2.77	0.32553	.	1.361990	0.04495	U	0.380244	T	0.60314	0.2259	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40905	-0.9538	10	0.23891	T	0.37	.	9.249	0.37543	0.0:0.5594:0.3532:0.0874	.	353	P35346	SSR5_HUMAN	V	353	ENSP00000380680:A353V;ENSP00000293897:A353V	ENSP00000293897:A353V	A	+	2	0	0	SSTR5	1069927	1069927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.008000	0.13197	0.420000	0.25954	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-18.385020	1	0.170000				9	9		99	97	0		1	0		0	0	17	0		9.944058e-01	0	0	0	0	1	0	9	99
CLEC16A	23274	broad.mit.edu	37	16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A	rs199811620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									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						AATCGTCAACGAAACGGAAGC	0.607																																						ENST00000409790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	37						c.(2869-2871)Gaa>Aaa		C-type lectin domain family 16, member A		G	LYS/GLU	1,4321		0,1,2160	108.0	123.0	118.0		2869	4.5	0.0	16		118	2,8506		0,2,4252	yes	missense	CLEC16A	NM_015226.2	56	0,3,6412	AA,AG,GG		0.0235,0.0231,0.0234	probably-damaging	957/1054	11272254	3,12827	2161	4254	6415	SO:0001583	missense	23274	25	121196	49				g.chr16:11272254G>A	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.2869G>A	chr16.hg19:g.11272254G>A	ENSP00000387122:p.Glu957Lys	0					CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	p.E957K	NM_015226.2	NP_056041.1	1	2	3	2.056757				24	3099	+				Missense_Mutation	SNP	ENST00000409790.1	1	1	hg19	c.2869G>A	CCDS45409.1	1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541002	0.45280	2.31E-4	2.35E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50813	0.73	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.064355	0.64402	D	0.000014	T	0.61261	0.2333	L	0.46157	1.445	0.27050	N	0.963812	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.935	T	0.56360	-0.7992	10	0.62326	D	0.03	-4.7551	14.7192	0.69294	0.0:0.0:1.0:0.0	.	44;957	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	K	957;957;44	ENSP00000387122:E957K	ENSP00000371244:E44K	E	+	1	0	0	CLEC16A	11179755	11179755	1.000000	0.71417	0.044000	0.18714	0.002000	0.02628	6.109000	0.71528	2.215000	0.71742	0.655000	0.94253	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	0		2	2	2	0		0	0	190		190	187	1	2.060000	-3.821062	1	0.170000	NM_015226			165	164		716	704	1		1	1		0	0	190	0		1	9.970986e-01	0	11	0	29	0	165	716
TNP2	7142	broad.mit.edu	37	16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	61					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)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617																																						ENST00000312693.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	6						c.(181-183)Gga>Tga		transition protein 2 (during histone to protamine replacement)							142.0	157.0	152.0					16																	11362939		2075	4213	6288	SO:0001587	stop_gained	7142	0	0					g.chr16:11362939C>A		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.181G>T	chr16.hg19:g.11362939C>A	ENSP00000325738:p.Gly61*	0					RMI2_ENST00000572173.1_Intron	p.G61*	NM_005425.4	NP_005416.1	1	2	3	2.056757	Q05952	STP2_HUMAN		1	250	-			Q9NZB0	Nonsense_Mutation	SNP	ENST00000312693.3	0	1	hg19	c.181G>T	CCDS45410.1	1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698888	0.30142	.	.	ENSG00000178279	ENST00000312693	.	.	.	0.91	-1.43	0.08884	0.91	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.9045	0.09176	0.0:0.4369:0.0:0.5631	.	.	.	.	X	61	.	ENSP00000325738:G61X	G	-	1	0	0	TNP2	11270440	11270440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-0.602000	0.05775	-0.266000	0.10368	GGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	1	0	1		2	2	2	0		0	0	191		191	190	1	2.060000	-20.000000	1	0.170000	NM_005425			195	193		916	894	1		1			0	0	191	0		1	0	0	0	0	0	0	195	916
TXNDC11	51061	broad.mit.edu	37	16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					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.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423																																						ENST00000356957.3	1.000000	0.230000	1	3.100000e-01	0.420000	0.515022	0.420000	0.390000																										1	Substitution - Missense(1)	p.S618C(1)	lung(1)	21						c.(1933-1935)tCt>tAt		thioredoxin domain containing 11							124.0	121.0	122.0					16																	11785193		2197	4300	6497	SO:0001583	missense	51061	0	0					g.chr16:11785193G>T	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.1934C>A	chr16.hg19:g.11785193G>T	ENSP00000349439:p.Ser645Tyr	0					TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y|TXNDC11_ENST00000570917.1_5'Flank	p.S645Y			1	2	3	2.056757	Q6PKC3	TXD11_HUMAN		9	2041	-			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	1	1	hg19	c.1934C>A		0	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803146	0.70682	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.38054	0.1026	L	0.50333	1.59	0.37626	D	0.921503	D;D	0.67145	0.978;0.996	P;P	0.60682	0.805;0.878	T	0.35674	-0.9779	10	0.59425	D	0.04	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Y	645;618	ENSP00000349439:S645Y;ENSP00000283033:S618Y	ENSP00000283033:S618Y	S	-	2	0	0	TXNDC11	11692694	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	0	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-3.527516	1	0.170000	NM_015914			15	15		444	435	0		1	1		0	0	87	0		9.998557e-01	9.991750e-01	0	10	0	341	0	15	444
TXNDC11	51061	broad.mit.edu	37	16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	627					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)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438																																						ENST00000356957.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1879-1881)cCg>cTg		thioredoxin domain containing 11							133.0	130.0	131.0					16																	11785247		2197	4300	6497	SO:0001583	missense	51061	0	0					g.chr16:11785247G>A	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.1880C>T	chr16.hg19:g.11785247G>A	ENSP00000349439:p.Pro627Leu	0					TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L|TXNDC11_ENST00000570917.1_5'Flank	p.P627L			1	2	3	2.056757	Q6PKC3	TXD11_HUMAN		9	1987	-			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	1	1	hg19	c.1880C>T		1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420081	0.62622	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14266	2.74;2.52	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.245095	0.42821	D	0.000651	T	0.12475	0.0303	L	0.34521	1.04	0.58432	D	0.999992	P;P	0.43519	0.491;0.809	B;B	0.35655	0.098;0.207	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.9249	19.0707	0.93134	0.0:0.0:1.0:0.0	.	627;600	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	627;600	ENSP00000349439:P627L;ENSP00000283033:P600L	ENSP00000283033:P600L	P	-	2	0	0	TXNDC11	11692748	11692748	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.778000	0.75043	2.746000	0.94184	0.655000	0.94253	CCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	1	0	0		2	2	2	0		0	0	122		122	120	1	2.060000	-2.742806	1	0.170000	NM_015914			95	94		437	432	1		1	1		0	0	122	0		1	1	0	63	0	288	0	95	437
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					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)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507																																						ENST00000356957.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1162-1164)gcC>gcT		thioredoxin domain containing 11							117.0	117.0	117.0					16																	11792005		2197	4300	6497	SO:0001819	synonymous_variant	51061	7	121412	42				g.chr16:11792005G>A	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.1164C>T	chr16.hg19:g.11792005G>A		0					TXNDC11_ENST00000283033.5_Silent_p.A361A	p.A388A			1	2	3	2.056757	Q6PKC3	TXD11_HUMAN		8	1271	-			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	1	1	hg19	c.1164C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-4.416671	1	0.170000	NM_015914			132	132		455	449	1		1	1		0	0	99	0		1	1	0	70	0	145	0	132	455
ZC3H7A	29066	broad.mit.edu	37	16	11873039	11873039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11873039C>T	ENST00000396516.2	-	3	486	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A97T|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	97						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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						GAATAGCAGGCAATACGATTT	0.274																																						ENST00000396516.2	1.000000	0.820000	1	9.600000e-01	0.990000	0.982733	0.990000	1.000000																										0				25						c.(289-291)Gcc>Acc		zinc finger CCCH-type containing 7A							67.0	77.0	74.0					16																	11873039		2195	4299	6494	SO:0001583	missense	29066	0	0					g.chr16:11873039C>T	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.289G>A	chr16.hg19:g.11873039C>T	ENSP00000379773:p.Ala97Thr	0					ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A97T	p.A97T			1	2	3	2.056757	Q8IWR0	Z3H7A_HUMAN		3	486	-			D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	1	0	hg19	c.289G>A	CCDS10550.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.162631	0.94727	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.61274	0.12;0.12	5.7	5.7	0.88788	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84670	0.0711	10	0.72032	D	0.01	.	18.8171	0.92081	0.0:1.0:0.0:0.0	.	97	Q8IWR0	Z3H7A_HUMAN	T	97	ENSP00000347999:A97T;ENSP00000379773:A97T	ENSP00000347999:A97T	A	-	1	0	0	ZC3H7A	11780540	11780540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.692000	0.91855	0.467000	0.42956	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014153			45	43		447	441	0		1	1		0	0	55	0		1	9.921990e-01	0	9	0	67	0	45	447
RSL1D1	26156	broad.mit.edu	37	16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	126					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318																																						ENST00000571133.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(376-378)Gtt>Att		ribosomal L1 domain containing 1							88.0	89.0	89.0					16																	11941533		2197	4299	6496	SO:0001583	missense	26156	1	121406	34				g.chr16:11941533C>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.376G>A	chr16.hg19:g.11941533C>T	ENSP00000460871:p.Val126Ile	0					RSL1D1_ENST00000542106.1_5'UTR	p.V126I	NM_015659.2	NP_056474.2	1	2	3	2.056757	O76021	RL1D1_HUMAN		3	448	-			B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	1	1	hg19	c.376G>A	CCDS10551.1	1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226134	0.00283	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.37915	1.17	5.0	1.47	0.22746	5.0	1.47	0.22746	Ribosomal protein L1, superfamily (1);	0.298473	0.36374	N	0.002639	T	0.09247	0.0228	N	0.01076	-1.035	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.011	T	0.35822	-0.9773	10	0.02654	T	1	-7.1063	7.6356	0.28264	0.0:0.359:0.0:0.641	.	126;126	Q32Q62;O76021	.;RL1D1_HUMAN	I	126	ENSP00000347897:V126I	ENSP00000347897:V126I	V	-	1	0	0	RSL1D1	11849034	11849034	0.010000	0.17322	0.157000	0.22605	0.144000	0.21451	-0.013000	0.12678	0.046000	0.15833	-1.327000	0.01280	GTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.344172	1	0.170000	NM_015659			58	57		292	286	1		1	1		0	0	68	0		1	1	0	144	0	332	0	58	292
GSPT1	2935	broad.mit.edu	37	16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000563468.1	-	13	1486	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	GSPT1_ENST00000434724.2_Missense_Mutation_p.A625V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V			P15170	ERF3A_HUMAN	G1 to S phase transition 1	487					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308																																						ENST00000563468.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1459-1461)gCa>gTa		G1 to S phase transition 1							141.0	140.0	140.0					16																	11967016		1873	4112	5985	SO:0001583	missense	2935	0	0					g.chr16:11967016G>A	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1460C>T	chr16.hg19:g.11967016G>A	ENSP00000454351:p.Ala487Val	0					RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.A625V|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V	p.A487V			1	2	3	2.056757	P15170	ERF3A_HUMAN		13	1486	-			J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	1	1	hg19	c.1460C>T	CCDS45414.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450010	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.59906	0.54;0.55;0.23	5.54	5.54	0.83059	5.54	5.54	0.83059	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83487	0.5265	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68039	0.955;0.955;0.935	D	0.88726	0.3233	10	0.87932	D	0	-19.6359	18.0661	0.89391	0.0:0.0:1.0:0.0	.	624;621;487	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	V	625;624;487	ENSP00000398131:A625V;ENSP00000408399:A624V;ENSP00000399539:A487V	ENSP00000399539:A487V	A	-	2	0	0	GSPT1	11874517	11874517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.605000	0.88082	0.591000	0.81541	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_002094			85	83		484	479	1		1	1		0	0	94	0		1	1	0	98	0	290	0	85	484
GSPT1	2935	broad.mit.edu	37	16	11990584	11990584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000563468.1	-	2	107	c.81A>C	c.(79-81)atA>atC	p.I27I	GSPT1_ENST00000434724.2_Silent_p.I165I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I			P15170	ERF3A_HUMAN	G1 to S phase transition 1	27					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433																																						ENST00000563468.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				14						c.(79-81)atA>atC		G1 to S phase transition 1							64.0	58.0	60.0					16																	11990584		1894	4128	6022	SO:0001819	synonymous_variant	2935	0	0					g.chr16:11990584T>G	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.81A>C	chr16.hg19:g.11990584T>G		0					RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Silent_p.I165I|GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I	p.I27I			1	2	3	2.056757	P15170	ERF3A_HUMAN		2	107	-			J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	1	1	hg19	c.81A>C	CCDS45414.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_002094			15	15		42	42	0		1	1		0	0	12	0		9.999455e-01	1	0	88	0	215	0	15	42
CACNA1H	8912	broad.mit.edu	37	16	1254314	1254314	+	Silent	SNP	G	G	A	rs61072201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1254314G>A	ENST00000348261.5	+	10	2555	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Silent_p.P769P|CACNA1H_ENST00000358590.4_Silent_p.P769P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	769					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGCAGCCCCGGGCGAGCCAG	0.706																																						ENST00000348261.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				34						c.(2305-2307)ccG>ccA		calcium channel, voltage-dependent, T type, alpha 1H subunit	Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	G	,	2,3998		0,2,1998	12.0	14.0	13.0		2307,2307	-8.4	0.0	16	dbSNP_129	13	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,2,6138	AA,AG,GG		0.0,0.05,0.0163	,	769/2348,769/2354	1254314	2,12278	2000	4140	6140	SO:0001819	synonymous_variant	8912	8	119550	34				g.chr16:1254314G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2307G>A	chr16.hg19:g.1254314G>A		0					CACNA1H_ENST00000565831.1_Silent_p.P769P|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.P769P	p.P769P	NM_021098.2	NP_066921.2	1	2	3	2.056757	O95180	CAC1H_HUMAN		10	2555	+		Hepatocellular(780;0.00369)	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	1	0	hg19	c.2307G>A	CCDS45375.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	1	0	0		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_001005407			20	20		94	94	0		1	0		0	0	17	0		9.999976e-01	5.556960e-01	0	0	0	10	0	20	94
TPSD1	23430	broad.mit.edu	37	16	1306840	1306840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	TPSD1_ENST00000397534.2_Silent_p.E92E|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667																																						ENST00000211076.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(295-297)gaG>gaA		tryptase delta 1							48.0	53.0	51.0					16																	1306840		2199	4300	6499	SO:0001819	synonymous_variant	23430	0	0					g.chr16:1306840G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.297G>A	chr16.hg19:g.1306840G>A		0					RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.E92E	p.E99E	NM_012217.2	NP_036349.1	1	2	3	2.056757	Q9BZJ3	TRYD_HUMAN		3	445	+		Hepatocellular(780;0.00369)	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	1	1	hg19	c.297G>A	CCDS10432.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				42	40		163	153	0		1			0	0	33	0		1	0	0	0	0	0	0	42	163
BAIAP3	8938	broad.mit.edu	37	16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000324385.5	+	18	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	573					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612																																						ENST00000324385.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1717-1719)cGt>cAt		BAI1-associated protein 3							102.0	102.0	102.0					16																	1394480		2199	4300	6499	SO:0001583	missense	8938	2	121410	34				g.chr16:1394480G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1718G>A	chr16.hg19:g.1394480G>A	ENSP00000324510:p.Arg573His	0					BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H	p.R573H	NM_003933.4	NP_003924.2	1	2	3	2.056757	O94812	BAIP3_HUMAN		18	1876	+		Hepatocellular(780;0.0893)	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	1	1	hg19	c.1718G>A	CCDS10434.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870421	0.33069	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71817	-0.59;-0.59;-0.6;-0.59;-0.6	4.17	0.721	0.18219	4.17	0.721	0.18219	.	0.510616	0.20686	N	0.087546	T	0.55433	0.1920	L	0.47716	1.5	0.20873	N	0.999833	P;P;P;P	0.49696	0.916;0.834;0.927;0.834	B;B;B;B	0.40782	0.247;0.255;0.255;0.34	T	0.50866	-0.8777	10	0.45353	T	0.12	-8.1547	4.0236	0.09677	0.1184:0.0:0.4607:0.4209	.	502;515;573;555	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	538;555;573;555;502	ENSP00000407242:R538H;ENSP00000380625:R555H;ENSP00000324510:R573H;ENSP00000380626:R555H;ENSP00000409533:R502H	ENSP00000324510:R573H	R	+	2	0	0	BAIAP3	1334481	1334481	0.481000	0.25941	0.818000	0.32626	0.847000	0.48162	1.203000	0.32284	0.826000	0.34661	0.491000	0.48974	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000				129	128		428	421	1		1	1		0	0	98	0		1	9.995437e-01	0	10	0	30	0	129	428
BAIAP3	8938	broad.mit.edu	37	16	1396176	1396176	+	Silent	SNP	C	C	T	rs115798223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000324385.5	+	25	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000426824.3_Silent_p.C769C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	804					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16770	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5	1.000000	0.960000	1	9.900000e-01	0.990000	0.997238	0.990000	1.000000																										0				42						c.(2410-2412)tgC>tgT		BAI1-associated protein 3		C	,,,,	0,4388		0,0,2194	25.0	28.0	27.0		2199,2307,2238,2223,2412	-3.0	1.0	16	dbSNP_132	27	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,,,,	733/1117,769/1153,746/1130,741/1125,804/1188	1396176	1,12985	2194	4299	6493	SO:0001819	synonymous_variant	8938	50	120860	44				g.chr16:1396176C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2412C>T	chr16.hg19:g.1396176C>T		0					BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000397489.1_Silent_p.C786C	p.C804C	NM_003933.4	NP_003924.2	1	2	3	2.056757	O94812	BAIP3_HUMAN		25	2570	+		Hepatocellular(780;0.0893)	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	1	1	hg19	c.2412C>T	CCDS10434.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-3.318336	1	0.170000				23	23		169	167	1		1	1		0	0	23	0		9.999995e-01	6.869237e-01	0	3	0	16	0	23	169
BAIAP3	8938	broad.mit.edu	37	16	1397298	1397298	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000324385.5	+	29	3014		c.e29-1		BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGCCCCAGGCCCTGGTCA	0.647																																						ENST00000324385.5	1.000000	0.380000	1	5.600000e-01	0.800000	0.790833	0.800000	1.000000																										0				42						c.e29-1		BAI1-associated protein 3							40.0	39.0	39.0					16																	1397298		2198	4299	6497	SO:0001630	splice_region_variant	8938	0	0					g.chr16:1397298G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2857-1G>T	chr16.hg19:g.1397298G>T		0					BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site		NM_003933.4	NP_003924.2	1	2	3	2.056757	O94812	BAIP3_HUMAN		29	3014	+		Hepatocellular(780;0.0893)	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	SNP	ENST00000324385.5	1	1	hg19		CCDS10434.1	0	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037427	0.35989	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9418	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	BAIAP3	1337299	1337299	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	2.661000	0.46758	2.367000	0.80283	0.561000	0.74099	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-13.133340	1	0.170000		Intron		9	9		140	140	0		1	0		0	0	27	0		9.946738e-01	4.792611e-03	0	1	0	1	0	9	140
BAIAP3	8938	broad.mit.edu	37	16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000324385.5	+	32	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14079	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3190-3192)cGc>cAc		BAI1-associated protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	61.0	66.0	64.0		2978,3086,3017,3002,3191	2.8	1.0	16	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	29,29,29,29,29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	993/1117,1029/1153,1006/1130,1001/1125,1064/1188	1397955	2,12994	2198	4300	6498	SO:0001583	missense	8938	12	121330	45				g.chr16:1397955G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3191G>A	chr16.hg19:g.1397955G>A	ENSP00000324510:p.Arg1064His	0					BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H	p.R1064H	NM_003933.4	NP_003924.2	1	2	3	2.056757	O94812	BAIP3_HUMAN		32	3349	+		Hepatocellular(780;0.0893)	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	1	1	hg19	c.3191G>A	CCDS10434.1	1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212959	0.39102	0.0	2.33E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.75	2.77	0.32553	4.75	2.77	0.32553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	N	0.000693	T	0.42291	0.1196	N	0.10685	0.025	0.38294	D	0.942807	B;B;B;B	0.18310	0.027;0.027;0.027;0.027	B;B;B;B	0.14578	0.003;0.006;0.011;0.006	T	0.28839	-1.0031	10	0.56958	D	0.05	-24.6693	7.0705	0.25175	0.2877:0.0:0.7123:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1029;1046;1064;1046;993	ENSP00000407242:R1029H;ENSP00000380625:R1046H;ENSP00000324510:R1064H;ENSP00000380626:R1046H;ENSP00000409533:R993H	ENSP00000324510:R1064H	R	+	2	0	0	BAIAP3	1337956	1337956	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.847000	0.27696	0.421000	0.25980	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000				126	124		599	589	1		1	1		0	0	101	0		1	9.260315e-01	0	4	0	19	0	126	599
BAIAP3	8938	broad.mit.edu	37	16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000324385.5	+	33	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1095	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701																																						ENST00000324385.5	1.000000	0.340000	1	4.600000e-01	0.630000	0.677108	0.630000	0.570000																										0				42						c.(3283-3285)cGc>cAc		BAI1-associated protein 3							25.0	26.0	26.0					16																	1398126		2192	4293	6485	SO:0001583	missense	8938	0	0					g.chr16:1398126G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3284G>A	chr16.hg19:g.1398126G>A	ENSP00000324510:p.Arg1095His	0					BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H	p.R1095H	NM_003933.4	NP_003924.2	1	2	3	2.056757	O94812	BAIP3_HUMAN		33	3442	+		Hepatocellular(780;0.0893)	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	1	1	hg19	c.3284G>A	CCDS10434.1	0	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942314	0.53079	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.64;-0.62	4.65	4.65	0.58169	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.070764	0.53938	D	0.000056	T	0.76033	0.3931	L	0.46885	1.475	0.41808	D	0.989951	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;D;D;D	0.68483	0.891;0.958;0.958;0.958	T	0.77281	-0.2646	10	0.59425	D	0.04	-11.4728	8.7969	0.34885	0.1047:0.0:0.8953:0.0	.	1024;1037;1095;1077	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1060;1077;1095;1077;1024	ENSP00000407242:R1060H;ENSP00000380625:R1077H;ENSP00000324510:R1095H;ENSP00000380626:R1077H;ENSP00000409533:R1024H	ENSP00000324510:R1095H	R	+	2	0	0	BAIAP3	1338127	1338127	0.966000	0.33281	0.804000	0.32291	0.073000	0.16967	3.136000	0.50554	2.117000	0.64856	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-15.240840	1	0.170000				13	13		256	254	0		1	1		0	0	38	0		9.995473e-01	2.579342e-01	0	3	0	16	0	13	256
SNX29	92017	broad.mit.edu	37	16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	597						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587																																						ENST00000566228.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				7						c.(1789-1791)gaG>gaT		sorting nexin 29							39.0	43.0	42.0					16																	12450028		2077	4216	6293	SO:0001583	missense	92017	0	0					g.chr16:12450028G>T	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.1791G>T	chr16.hg19:g.12450028G>T	ENSP00000456480:p.Glu597Asp	0					SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	p.E597D	NM_032167.3	NP_115543.3	1	2	3	2.056757	Q8TEQ0	SNX29_HUMAN		16	1860	+			B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	1	1	hg19	c.1791G>T	CCDS10553.2	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275544	0.59649	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.36	4.31	0.51392	5.36	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.38175	1.15	0.26902	N	0.967094	.	.	.	.	.	.	T	0.11717	-1.0576	7	0.30854	T	0.27	-28.2457	4.8659	0.13607	0.2513:0.0:0.7487:0.0	.	.	.	.	D	212	.	ENSP00000306940:E212D	E	+	3	2	2	SNX29	12357529	12357529	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.968000	0.63728	2.496000	0.84212	0.563000	0.77884	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				22	22		80	79	1		1	0		0	0	23	0		9.999995e-01	9.872809e-01	0	1	0	28	0	22	80
ERCC4	2072	broad.mit.edu	37	16	14022092	14022092	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA|ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	264	Helicase-like.				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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (F)	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	16p13.3-p13.13	2072	Mis, N, F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""				E	E		skin basal cell, skin squamous cell, melanoma			0				38						c.(790-792)aaG>aaT	Nucleotide excision repair (NER)	excision repair cross-complementation group 4							59.0	60.0	60.0					16																	14022092		2197	4300	6497	SO:0001630	splice_region_variant	2072	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr16:14022092G>T	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.792+1G>T	chr16.hg19:g.14022092G>T		0					CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	p.K264N	NM_005236.2	NP_005227.1	1	2	3	2.056757	Q92889	XPF_HUMAN		4	801	+			A5PKV6|A8K111|O00140|Q8TD83	Splice_Site	SNP	ENST00000311895.7	1	0	hg19	c.792G>T	CCDS32390.1	1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616793	0.66672	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.66280	-0.2	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.83312	2.635	0.80722	D	1	P;D	0.56035	0.687;0.974	B;P	0.55615	0.259;0.78	T	0.76751	-0.2844	10	0.41790	T	0.15	-34.8801	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264;264	A5PKV6;Q92889	.;XPF_HUMAN	N	264;253;253	ENSP00000310520:K264N	ENSP00000310520:K264N	K	+	3	2	2	ERCC4	13929593	13929593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.787002	1	0.170000	NM_005236	Missense_Mutation		37	37		189	189	0		1	0		0	0	67	0		1	8.585204e-01	0	1	0	19	0	37	189
ERCC4	2072	broad.mit.edu	37	16	14029331	14029331	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029331T>G	ENST00000311895.7	+	8	1551	c.1542T>G	c.(1540-1542)taT>taG	p.Y514*	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	514					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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAAGGATATCGTCGAGAAA	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7	1.000000	0.160000	1	2.300000e-01	0.340000	0.445873	0.340000	0.300000			yes	Rec		Xeroderma pigmentosum (F)	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	16p13.3-p13.13	2072	Mis, N, F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""				E	E		skin basal cell, skin squamous cell, melanoma			0				38						c.(1540-1542)taT>taG	Nucleotide excision repair (NER)	excision repair cross-complementation group 4							73.0	74.0	73.0					16																	14029331		2197	4300	6497	SO:0001587	stop_gained	2072	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr16:14029331T>G	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.1542T>G	chr16.hg19:g.14029331T>G	ENSP00000310520:p.Tyr514*	0					CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	p.Y514*	NM_005236.2	NP_005227.1	1	2	3	2.056757	Q92889	XPF_HUMAN		8	1551	+			A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	0	1	hg19	c.1542T>G	CCDS32390.1	0	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254748	0.39896	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.51	-5.5	0.02576	5.51	-5.5	0.02576	.	3.664390	0.00397	N	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8712	9.2505	0.37551	0.0:0.4804:0.2273:0.2922	.	.	.	.	X	514;503	.	ENSP00000310520:Y514X	Y	+	3	2	2	ERCC4	13936832	13936832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.546000	0.02188	-1.237000	0.02539	-0.250000	0.11733	TAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-10.177100	1	0.170000	NM_005236			10	10		385	380	0		1	0		0	0	95	0		9.967645e-01	3.223234e-01	0	0	0	42	0	10	385
ERCC4	2072	broad.mit.edu	37	16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A	rs202186213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	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	578					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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.0		0.001	False		,,,				2504	0.0					ENST00000311895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (F)	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	16p13.3-p13.13	2072	Mis, N, F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""				E	E		skin basal cell, skin squamous cell, melanoma			0				38						c.(1732-1734)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementation group 4							79.0	78.0	78.0					16																	14029521		2197	4300	6497	SO:0001583	missense	2072	2	121412	33	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr16:14029521G>A	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.1732G>A	chr16.hg19:g.14029521G>A	ENSP00000310520:p.Val578Met	0					CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	p.V578M	NM_005236.2	NP_005227.1	1	2	3	2.056757	Q92889	XPF_HUMAN		8	1741	+			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	1	1	hg19	c.1732G>A	CCDS32390.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831633	0.91036	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83833	0.0253	10	0.72032	D	0.01	-23.4834	18.3806	0.90449	0.0:0.0:1.0:0.0	.	578	Q92889	XPF_HUMAN	M	578;567	ENSP00000310520:V578M	ENSP00000310520:V578M	V	+	1	0	0	ERCC4	13937022	13937022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.644000	0.89710	0.591000	0.81541	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_005236			96	94		358	357	1		1	1		0	0	71	0		1	9.427757e-01	0	2	0	18	0	96	358
ERCC4	2072	broad.mit.edu	37	16	14041754	14041754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	767	Nuclease.				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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (F)	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	16p13.3-p13.13	2072	Mis, N, F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""				E	E		skin basal cell, skin squamous cell, melanoma			0				38						c.(2299-2301)ttC>ttT	Nucleotide excision repair (NER)	excision repair cross-complementation group 4							122.0	118.0	119.0					16																	14041754		2197	4300	6497	SO:0001819	synonymous_variant	2072	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr16:14041754C>T	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.2301C>T	chr16.hg19:g.14041754C>T		0						p.F767F	NM_005236.2	NP_005227.1	1	2	3	2.056757	Q92889	XPF_HUMAN		11	2310	+			A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	1	1	hg19	c.2301C>T	CCDS32390.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-20.000000	1	0.170000	NM_005236			112	109		473	459	1		1	1		0	0	94	0		1	8.629493e-01	0	2	0	15	0	112	473
MKL2	57496	broad.mit.edu	37	16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000574045.1	+	3	172	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000571589.1_Missense_Mutation_p.A6V|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					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)			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						CACACAGGGGCGATAGACACC	0.502																																						ENST00000574045.1	1.000000	0.410000	1	5.500000e-01	0.720000	0.749229	0.720000	1.000000																										0				42						c.(16-18)gCg>gTg		MKL/myocardin-like 2							123.0	99.0	107.0					16																	14234480		2197	4300	6497	SO:0001583	missense	57496	6	121412	35				g.chr16:14234480C>T	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	ENST00000574045.1:c.17C>T	chr16.hg19:g.14234480C>T	ENSP00000459205:p.Ala6Val	0					MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.A6V|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V	p.A6V			1	2	3	2.056757	Q9ULH7	MKL2_HUMAN		3	172	+			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	1	1	hg19	c.17C>T	CCDS32391.1	0	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158251	0.21454	.	.	ENSG00000186260	ENST00000318282	.	.	.	4.93	2.59	0.31030	4.93	2.59	0.31030	.	.	.	.	.	T	0.26774	0.0655	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.25719	0.081;0.132	B;B	0.21546	0.016;0.035	T	0.14868	-1.0457	8	0.23302	T	0.38	.	11.1804	0.48625	0.0:0.8158:0.0:0.1842	.	6;6	B4DGT8;Q9ULH7-4	.;.	V	6	.	ENSP00000339086:A6V	A	+	2	0	0	MKL2	14141981	14141981	0.028000	0.19301	0.537000	0.28052	0.191000	0.23601	0.397000	0.20883	1.083000	0.41159	-0.140000	0.14226	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.317413	1	0.170000	NM_014048			16	16		269	262	0		1	0		0	0	70	0		9.999266e-01	3.725602e-01	0	1	0	21	0	16	269
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000571589.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000574045.1_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																																						ENST00000341243.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										3	Substitution - coding silent(3)	p.I581I(3)	large_intestine(2)|lung(1)	42						c.(1708-1710)atC>atT		MKL/myocardin-like 2		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	SO:0001819	synonymous_variant	57496	13	121412	41				g.chr16:14340860C>T	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	chr16.hg19:g.14340860C>T		0					MKL2_ENST00000571589.1_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I	p.I570I			1	2	3	2.056757	Q9ULH7	MKL2_HUMAN		10	1710	+			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	1	1	hg19	c.1710C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.329098	1	0.170000	NM_014048			39	39		220	212	1		1	1		0	0	50	0		1	9.640777e-01	0	2	0	31	0	39	220
MKL2	57496	broad.mit.edu	37	16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000341243.5	+	10	1908	c.1908C>A	c.(1906-1908)tgC>tgA	p.C636*	MKL2_ENST00000571589.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	636					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)			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						TCCCTGACTGCTCCAGCTCCA	0.587																																						ENST00000341243.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1906-1908)tgC>tgA		MKL/myocardin-like 2							40.0	41.0	41.0					16																	14341058		2197	4300	6497	SO:0001587	stop_gained	57496	0	0					g.chr16:14341058C>A	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.1908C>A	chr16.hg19:g.14341058C>A	ENSP00000345841:p.Cys636*	0					MKL2_ENST00000571589.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*	p.C636*			1	2	3	2.056757	Q9ULH7	MKL2_HUMAN		10	1908	+			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Nonsense_Mutation	SNP	ENST00000341243.5	0	1	hg19	c.1908C>A		1	.	.	.	.	.	.	.	.	.	.	C	40	7.948015	0.98577	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.43	4.25	0.50352	5.43	4.25	0.50352	.	0.202123	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3376	8.5521	0.33458	0.0:0.7987:0.0:0.2013	.	.	.	.	X	647;636	.	ENSP00000339086:C647X	C	+	3	2	2	MKL2	14248559	14248559	0.961000	0.32948	1.000000	0.80357	0.816000	0.46133	0.562000	0.23531	2.700000	0.92200	0.655000	0.94253	TGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MKL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_014048			56	56		294	290	1		1	0		0	0	61	0		1	9.653065e-01	0	0	0	31	0	56	294
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	RNU7-125P_ENST00000458760.1_RNA|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488																																						ENST00000261658.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(163-165)cGt>cAt		bifunctional apoptosis regulator							145.0	133.0	137.0					16																	14738367		2197	4300	6497	SO:0001583	missense	51283	13	121412	46				g.chr16:14738367G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.164G>A	chr16.hg19:g.14738367G>A	ENSP00000261658:p.Arg55His	0					RNU7-125P_ENST00000458760.1_RNA|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	p.R55H	NM_016561.2	NP_057645.1	1	2	3	2.056757	Q9NZS9	BFAR_HUMAN		2	441	+			A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	1	1	hg19	c.164G>A	CCDS10554.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.520793	0.96416	.	.	ENSG00000103429	ENST00000261658	T	0.08193	3.12	6.02	6.02	0.97574	6.02	6.02	0.97574	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.74467	2.265	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	T	0.00536	-1.1683	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	55;55;55	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	H	55	ENSP00000261658:R55H	ENSP00000261658:R55H	R	+	2	0	0	BFAR	14645868	14645868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.855000	0.98099	0.655000	0.94253	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	NM_016561			155	153		599	584	1		1	1		0	0	150	0		1	1	0	104	0	200	0	155	599
NOMO1	23420	broad.mit.edu	37	16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	806						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507																																						ENST00000287667.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2416-2418)caG>caT		NODAL modulator 1							98.0	92.0	94.0					16																	14970277		2194	4297	6491	SO:0001583	missense	23420	0	0					g.chr16:14970277G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2418G>T	chr16.hg19:g.14970277G>T	ENSP00000287667:p.Gln806His	0						p.Q806H	NM_014287.3	NP_055102.3	1	2	3	2.056757	Q15155	NOMO1_HUMAN		21	2589	+			P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	1	1	hg19	c.2418G>T	CCDS10556.1	1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.621047	0.46736	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04234	3.67	3.57	3.57	0.40892	3.57	3.57	0.40892	.	0.059244	0.64402	D	0.000002	T	0.06462	0.0166	L	0.54323	1.7	0.50467	D	0.999874	P	0.41748	0.761	B	0.38500	0.275	T	0.41305	-0.9516	10	0.35671	T	0.21	-19.8079	12.7421	0.57259	0.0:0.0:1.0:0.0	.	806	Q15155	NOMO1_HUMAN	H	806;806;639	ENSP00000287667:Q806H	ENSP00000287667:Q806H	Q	+	3	2	2	NOMO1	14877778	14877778	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.034000	0.41145	1.821000	0.53095	0.398000	0.26397	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1	1	0	1		2	2	2	0		0	0	126		126	168	1	2.060000	-20.000000	1	0.170000				103	79		448	354	0		1	1		0	0	126	0		1	1	0	34	0	120	0	103	448
NPRL3	8131	broad.mit.edu	37	16	150396	150396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000399953.3	-	7	1143	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	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)	247					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602																																						ENST00000399953.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				6						c.(739-741)gcC>gcT		nitrogen permease regulator-like 3 (S. cerevisiae)							37.0	43.0	41.0					16																	150396		2013	4155	6168	SO:0001819	synonymous_variant	8131	0	0					g.chr16:150396G>A		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.741C>T	chr16.hg19:g.150396G>A		0					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	p.A247A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	1	2	3	2.056757	Q12980	NPRL3_HUMAN		7	1143	-			D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	ENST00000399953.3	1	1	hg19	c.741C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001039476			20	20		64	63	1		1	1		0	0	13	0		9.999980e-01	9.999998e-01	0	34	0	67	0	20	64
CLCN7	1186	broad.mit.edu	37	16	1502883	1502883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	ENST00000382745.4	-	15	1831	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q|CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGCAGGGCCGGTGGATGTA	0.662																																						ENST00000382745.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				24						c.(1225-1227)cGg>cAg		chloride channel, voltage-sensitive 7							15.0	14.0	14.0					16																	1502883		2166	4280	6446	SO:0001583	missense	1186	4	118234	38				g.chr16:1502883C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1226G>A	chr16.hg19:g.1502883C>T	ENSP00000372193:p.Arg409Gln	0					CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q|LA16c-390E6.4_ENST00000563610.1_RNA	p.R409Q	NM_001287.5	NP_001278.1	1	2	3	2.056757	P51798	CLCN7_HUMAN		15	1831	-		Hepatocellular(780;0.0893)	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	0	1	hg19	c.1226G>A	CCDS32361.1	1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919562	0.52653	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94232	-3.38;-3.38	5.15	5.15	0.70609	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	L	0.39633	1.23	0.80722	D	1	B;P	0.50710	0.09;0.938	B;B	0.36092	0.069;0.217	D	0.87485	0.2423	10	0.22109	T	0.4	-33.6187	17.1754	0.86840	0.0:1.0:0.0:0.0	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	Q	385;362;409;351	ENSP00000410907:R385Q;ENSP00000372193:R409Q	ENSP00000262318:R362Q	R	-	2	0	0	CLCN7	1442884	1442884	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.125000	0.77193	2.404000	0.81709	0.561000	0.74099	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.999960	1	0.170000	NM_001287			12	12		40	38	0		1	1		0	0	9	0		9.993537e-01	9.999998e-01	0	37	0	98	0	12	40
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F|CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607																																						ENST00000382745.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(694-696)tCc>tTc		chloride channel, voltage-sensitive 7							87.0	77.0	81.0					16																	1507738		2199	4300	6499	SO:0001583	missense	1186	0	0					g.chr16:1507738G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.695C>T	chr16.hg19:g.1507738G>A	ENSP00000372193:p.Ser232Phe	0					CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	p.S232F	NM_001287.5	NP_001278.1	1	2	3	2.056757	P51798	CLCN7_HUMAN		8	1300	-		Hepatocellular(780;0.0893)	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	1	1	hg19	c.695C>T	CCDS32361.1	1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335237	0.24253	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93811	-3.29;-3.29	5.39	4.41	0.53225	5.39	4.41	0.53225	Chloride channel, core (2);	0.290406	0.40064	N	0.001198	T	0.72020	0.3409	N	0.00226	-1.805	0.38954	D	0.958401	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71234	-0.4653	10	0.24483	T	0.36	-21.299	6.9991	0.24799	0.1016:0.2644:0.634:0.0	.	208;232	E9PDB9;P51798	.;CLCN7_HUMAN	F	208;185;232;174	ENSP00000410907:S208F;ENSP00000372193:S232F	ENSP00000262318:S185F	S	-	2	0	0	CLCN7	1447739	1447739	0.882000	0.30256	0.966000	0.40874	0.836000	0.47400	1.519000	0.35888	2.521000	0.84997	0.561000	0.74099	TCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_001287			74	74		339	336	1		1	1		0	0	75	0		1	1	0	47	0	141	0	74	339
CLCN7	1186	broad.mit.edu	37	16	1509188	1509188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000448525.1_Splice_Site_p.P175S|CLCN7_ENST00000262318.8_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657																																						ENST00000382745.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(595-597)Ccg>Tcg		chloride channel, voltage-sensitive 7							34.0	36.0	35.0					16																	1509188		2197	4300	6497	SO:0001630	splice_region_variant	1186	0	0					g.chr16:1509188G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.595-1C>T	chr16.hg19:g.1509188G>A		0					CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	p.P199S	NM_001287.5	NP_001278.1	1	2	3	2.056757	P51798	CLCN7_HUMAN		7	1200	-		Hepatocellular(780;0.0893)	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Splice_Site	SNP	ENST00000382745.4	1	0	hg19	c.595C>T	CCDS32361.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224290	0.79576	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82984	-1.67;-1.67	4.67	4.67	0.58626	4.67	4.67	0.58626	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.93486	0.6831	10	0.87932	D	0	-20.5361	11.72	0.51677	0.0:0.0:0.8233:0.1767	.	175;199	E9PDB9;P51798	.;CLCN7_HUMAN	S	175;152;199;141	ENSP00000410907:P175S;ENSP00000372193:P199S	ENSP00000262318:P152S	P	-	1	0	0	CLCN7	1449189	1449189	1.000000	0.71417	0.689000	0.30133	0.060000	0.15804	6.343000	0.72986	2.314000	0.78098	0.655000	0.94253	CCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_001287	Missense_Mutation		32	31		139	137	1		1	1		0	0	31	0		1	1	0	27	0	108	0	32	139
NOMO1	23420	broad.mit.edu	37	16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1200						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542																																						ENST00000287667.7	1.000000	0.900000	1	9.600000e-01	0.990000	0.986745	0.990000	1.000000																										0				30						c.(3598-3600)gCa>gTa		NODAL modulator 1							253.0	319.0	297.0					16																	14989432		2193	4298	6491	SO:0001583	missense	23420	0	0					g.chr16:14989432C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3599C>T	chr16.hg19:g.14989432C>T	ENSP00000287667:p.Ala1200Val	0						p.A1200V	NM_014287.3	NP_055102.3	1	2	3	2.056757	Q15155	NOMO1_HUMAN		31	3770	+			P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	1	1	hg19	c.3599C>T	CCDS10556.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303128	0.40795	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.54479	0.57	2.99	2.99	0.34606	2.99	2.99	0.34606	.	0.210335	0.41605	D	0.000860	T	0.45316	0.1336	L	0.50333	1.59	0.46376	D	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.48790	-0.9004	10	0.48119	T	0.1	-1.1936	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1200	Q15155	NOMO1_HUMAN	V	1200;1200;1033	ENSP00000287667:A1200V	ENSP00000287667:A1200V	A	+	2	0	0	NOMO1	14896933	14896933	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.900000	0.56295	1.681000	0.50988	0.384000	0.25694	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1	0	0	1		2	2	2	0		0	0	649		649	689	1	2.060000	-20.000000	1	0.170000				273	260		2955	2714	0		1	0		0	0	649	0		1	1	0	0	0	329	0	273	2955
PDXDC1	23042	broad.mit.edu	37	16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	95					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)			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						GCTTTGTTGGGACATAGTCTG	0.353																																						ENST00000396410.4	1.000000	0.300000	1	3.700000e-01	0.440000	0.536168	0.440000	0.430000																										0				38						c.(283-285)gGa>gAa		pyridoxal-dependent decarboxylase domain containing 1							162.0	176.0	171.0					16																	15098085		2197	4300	6497	SO:0001583	missense	23042	0	0					g.chr16:15098085G>A	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.284G>A	chr16.hg19:g.15098085G>A	ENSP00000379691:p.Gly95Glu	0					PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000447912.2_Intron	p.G95E	NM_015027.2	NP_055842.2	1	2	3	2.056757	Q6P996	PDXD1_HUMAN		5	381	+			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	1	1	hg19	c.284G>A	CCDS32393.1	0	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944065	0.92593	.	.	ENSG00000179889	ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.72	5.72	0.89469	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.984	D;D;D;D;D;P	0.97110	0.998;1.0;0.995;0.998;0.998;0.885	T	0.43766	-0.9371	10	0.72032	D	0.01	-24.923	19.2382	0.93871	0.0:0.0:1.0:0.0	.	67;80;95;67;95;95	E7EPL4;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	E	80;95;95;67;95	ENSP00000322807:G80E;ENSP00000437835:G95E;ENSP00000379691:G95E;ENSP00000391147:G67E;ENSP00000406703:G95E	ENSP00000322807:G80E	G	+	2	0	0	PDXDC1	15005586	15005586	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.850000	0.98022	0.650000	0.86243	GGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	0	0	1		2	2	2	0		0	0	197		197	195	1	2.060000	-3.500225	1	0.170000	NM_015027			36	37		971	957	0		1	1		0	0	197	0		1	9.998234e-01	0	22	0	321	0	36	971
PTX4	390667	broad.mit.edu	37	16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L			Q96A99	PTX4_HUMAN	pentraxin 4, long	236						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662																																						ENST00000447419.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(706-708)cCt>cTt		pentraxin 4, long							28.0	34.0	32.0					16																	1537406		2199	4297	6496	SO:0001583	missense	390667	0	0					g.chr16:1537406G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.707C>T	chr16.hg19:g.1537406G>A	ENSP00000445277:p.Pro236Leu	0					PTX4_ENST00000293922.1_Missense_Mutation_p.P231L|PTX4_ENST00000440447.2_Intron	p.P236L			1	2	3	2.056757	Q96A99	PTX4_HUMAN		2	732	-				Missense_Mutation	SNP	ENST00000447419.2	1	1	hg19	c.707C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431251	0.43122	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05199	3.62;3.48	5.15	-0.739	0.11120	5.15	-0.739	0.11120	.	3.081050	0.00877	N	0.002089	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	D	0.58970	0.984	P	0.55161	0.77	T	0.19224	-1.0312	10	0.25751	T	0.34	.	2.4394	0.04490	0.1607:0.2717:0.4279:0.1397	.	231	Q96A99-2	.	L	236;231	ENSP00000445277:P236L;ENSP00000293922:P231L	ENSP00000293922:P231L	P	-	2	0	0	PTX4	1477407	1477407	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.241000	0.09681	-0.165000	0.13383	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_001013658			68	68		292	280	0		1			0	0	58	0		1	0	0	0	0	0	0	68	292
PTX4	390667	broad.mit.edu	37	16	1537808	1537808	+	Missense_Mutation	SNP	G	G	A	rs61733465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537808G>A	ENST00000447419.2	-	2	330	c.305C>T	c.(304-306)gCg>gTg	p.A102V	PTX4_ENST00000440447.2_Missense_Mutation_p.A102V|PTX4_ENST00000293922.1_Missense_Mutation_p.A97V			Q96A99	PTX4_HUMAN	pentraxin 4, long	102						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTTGAGCTGCGCCAGCTCCCC	0.677													G|||	28	0.00559105	0.0197	0.0029	5008	,	,		15570	0.0		0.0	False		,,,				2504	0.0					ENST00000447419.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(304-306)gCg>gTg		pentraxin 4, long		G	VAL/ALA	73,4325		1,71,2127	55.0	58.0	57.0		290	1.1	0.1	16	dbSNP_129	57	0,8594		0,0,4297	yes	missense	PTX4	NM_001013658.1	64	1,71,6424	AA,AG,GG		0.0,1.6598,0.5619	benign	97/474	1537808	73,12919	2199	4297	6496	SO:0001583	missense	390667	209	121348	56				g.chr16:1537808G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.305C>T	chr16.hg19:g.1537808G>A	ENSP00000445277:p.Ala102Val	0					PTX4_ENST00000293922.1_Missense_Mutation_p.A97V|PTX4_ENST00000440447.2_Missense_Mutation_p.A102V	p.A102V			1	2	3	2.056757	Q96A99	PTX4_HUMAN		2	330	-				Missense_Mutation	SNP	ENST00000447419.2	1	0	hg19	c.305C>T		1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	G	5.119	0.207595	0.09704	0.016598	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.55;3.41	5.77	1.14	0.20703	5.77	1.14	0.20703	.	1.841690	0.02491	N	0.089444	T	0.01870	0.0059	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37979	-0.9682	10	0.35671	T	0.21	.	2.402	0.04404	0.1102:0.1576:0.4385:0.2937	.	97	Q96A99-2	.	V	102;97	ENSP00000445277:A102V;ENSP00000293922:A97V	ENSP00000293922:A97V	A	-	2	0	0	PTX4	1477809	1477809	0.068000	0.21057	0.075000	0.20258	0.001000	0.01503	0.402000	0.20965	0.103000	0.17682	-1.151000	0.01829	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	0	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-2.775691	1	0.170000	NM_001013658			128	127		503	497	1		1	0		0	0	133	0		1	0	0	0	0	1	0	128	503
TELO2	9894	broad.mit.edu	37	16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	450					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687																																						ENST00000262319.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1348-1350)Gcc>Acc		telomere maintenance 2							29.0	28.0	28.0					16																	1551487		2195	4295	6490	SO:0001583	missense	9894	0	0					g.chr16:1551487G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1348G>A	chr16.hg19:g.1551487G>A	ENSP00000262319:p.Ala450Thr	0						p.A450T	NM_016111.3	NP_057195.2	1	2	3	2.056757	Q9Y4R8	TELO2_HUMAN		10	1627	+		Hepatocellular(780;0.219)	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	1	1	hg19	c.1348G>A	CCDS32363.1	1	.	.	.	.	.	.	.	.	.	.	g	8.776	0.927147	0.18056	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.83992	-1.79	5.27	-5.6	0.02497	5.27	-5.6	0.02497	.	1.112770	0.06593	N	0.752326	T	0.55909	0.1950	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47394	-0.9121	10	0.13108	T	0.6	-6.8133	0.4389	0.00483	0.2154:0.1788:0.2547:0.351	.	450	Q9Y4R8	TELO2_HUMAN	T	64;450	ENSP00000262319:A450T	ENSP00000262319:A450T	A	+	1	0	0	TELO2	1491488	1491488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-1.029000	0.03317	-0.142000	0.14014	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	1	0	1		2	2	2	0		0	0	17		17	15	1	2.060000	-4.516604	1	0.170000	NM_016111			38	37		115	114	1		1	1		0	0	17	0		1	9.957137e-01	0	5	0	23	0	38	115
TELO2	9894	broad.mit.edu	37	16	1557010	1557010	+	Silent	SNP	G	G	A	rs147404164	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1557010G>A	ENST00000262319.6	+	18	2463	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	728					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGGCTGGCGCACACCTTAG	0.647													G|||	6	0.00119808	0.0	0.0	5008	,	,		15948	0.005		0.0	False		,,,				2504	0.001					ENST00000262319.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				19						c.(2182-2184)gcG>gcA		telomere maintenance 2							68.0	52.0	57.0					16																	1557010		2199	4298	6497	SO:0001819	synonymous_variant	9894	13	121216	37				g.chr16:1557010G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2184G>A	chr16.hg19:g.1557010G>A		0						p.A728A	NM_016111.3	NP_057195.2	1	2	3	2.056757	Q9Y4R8	TELO2_HUMAN		18	2463	+		Hepatocellular(780;0.219)	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	1	0	hg19	c.2184G>A	CCDS32363.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_016111			19	19		85	85	1		1	1		0	0	22	0		9.999953e-01	9.999163e-01	0	11	0	65	0	19	85
PDXDC1	23042	broad.mit.edu	37	16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A	rs568115955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					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)			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						CAGAGTCAACGGTTGCAGGAA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		30426	0.0		0.0	False		,,,				2504	0.0					ENST00000396410.4	1.000000	0.620000	1	7.800000e-01	0.980000	0.915047	0.980000	1.000000																										0				38						c.(1096-1098)cGg>cAg		pyridoxal-dependent decarboxylase domain containing 1							150.0	133.0	139.0					16																	15116568		2197	4300	6497	SO:0001583	missense	23042	1	121412	34				g.chr16:15116568G>A	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.1097G>A	chr16.hg19:g.15116568G>A	ENSP00000379691:p.Arg366Gln	0					PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q	p.R366Q	NM_015027.2	NP_055842.2	1	2	3	2.056757	Q6P996	PDXD1_HUMAN		13	1194	+			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	1	1	hg19	c.1097G>A	CCDS32393.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411756	0.25465	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.96	4.01	0.46588	4.96	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.29061	0.0722	L	0.32530	0.975	0.31088	N	0.711142	B;B;B;B;B;B	0.20052	0.004;0.004;0.014;0.004;0.004;0.041	B;B;B;B;B;B	0.11329	0.002;0.003;0.003;0.003;0.002;0.006	T	0.21621	-1.0240	10	0.26408	T	0.33	-20.2729	9.0978	0.36649	0.167:0.0:0.833:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Q	351;275;366;366;338;72;343	ENSP00000322807:R351Q;ENSP00000400310:R275Q;ENSP00000437835:R366Q;ENSP00000379691:R366Q;ENSP00000391147:R338Q;ENSP00000406703:R343Q	ENSP00000322807:R351Q	R	+	2	0	0	PDXDC1	15024069	15024069	0.987000	0.35691	0.119000	0.21687	0.970000	0.65996	3.786000	0.55431	1.094000	0.41399	-0.350000	0.07774	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.619824	1	0.170000	NM_015027			23	23		274	268	1		1	1		0	0	56	0		9.999993e-01	1	0	111	0	370	0	23	274
KIAA0430	9665	broad.mit.edu	37	16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T	rs370385036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000396368.3	-	10	2454	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	750					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428																																						ENST00000396368.3	1.000000	0.690000	1	8.200000e-01	0.970000	0.928932	0.970000	1.000000																										0				40						c.(2248-2250)Gca>Aca		KIAA0430		C	THR/ALA,THR/ALA,THR/ALA	0,3946		0,0,1973	115.0	121.0	119.0		2248,2239,2245	-7.6	0.0	16		119	1,8323		0,1,4161	no	missense,missense,missense	KIAA0430	NM_014647.3,NM_001184999.1,NM_001184998.1	58,58,58	0,1,6134	TT,TC,CC		0.012,0.0,0.0081	benign,benign,benign	750/1743,747/1740,749/1743	15718648	1,12269	1973	4162	6135	SO:0001583	missense	9665	8	120894	41				g.chr16:15718648C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2248G>A	chr16.hg19:g.15718648C>T	ENSP00000379654:p.Ala750Thr	0					KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T	p.A750T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	1	2	3	2.056757	Q9Y4F3	MARF1_HUMAN		10	2454	-			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	1	1	hg19	c.2248G>A	CCDS10562.2	1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212746	0.09757	0.0	1.2E-4	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	-7.59	0.01308	6.08	-7.59	0.01308	.	1.014950	0.07841	N	0.963039	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44452	-0.9327	9	0.05959	T	0.93	.	12.1485	0.54036	0.1754:0.5963:0.0:0.2282	.	748;747;746;749	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	750;607;749;428;747;749;606	.	ENSP00000315718:A749T	A	-	1	0	0	KIAA0430	15626149	15626149	0.001000	0.12720	0.004000	0.12327	0.596000	0.36781	-0.766000	0.04725	-1.422000	0.02004	-1.083000	0.02208	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-3.318793	1	0.170000	NM_014647			41	41		484	476	0		1	1		0	0	140	0		1	9.462084e-01	0	7	0	52	0	41	484
IFT140	9742	broad.mit.edu	37	16	1573949	1573949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000426508.2	-	25	3513	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_ENST00000361339.5_Silent_p.G244G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1050					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)				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)				GGTCGTCCAGGCCGTTCTCCT	0.662																																						ENST00000426508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3148-3150)ggC>ggT		intraflagellar transport 140							54.0	48.0	50.0					16																	1573949		2199	4300	6499	SO:0001819	synonymous_variant	9742	0	0					g.chr16:1573949G>A	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.3150C>T	chr16.hg19:g.1573949G>A		0					IFT140_ENST00000361339.5_Silent_p.G244G	p.G1050G	NM_014714.3	NP_055529.2	1	2	3	2.056757	Q96RY7	IF140_HUMAN		25	3513	-		Hepatocellular(780;0.219)	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	1	1	hg19	c.3150C>T	CCDS10439.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_014714			47	46		160	159	1		1	1		0	0	24	0		1	9.997446e-01	0	12	0	34	0	47	160
KIAA0430	9665	broad.mit.edu	37	16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000396368.3	-	3	817	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	204					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522																																						ENST00000396368.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(610-612)gGt>gTt		KIAA0430							94.0	96.0	95.0					16																	15729733		2056	4189	6245	SO:0001583	missense	9665	0	0					g.chr16:15729733C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.611G>T	chr16.hg19:g.15729733C>A	ENSP00000379654:p.Gly204Val	0					KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V	p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	1	2	3	2.056757	Q9Y4F3	MARF1_HUMAN		3	817	-			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	1	1	hg19	c.611G>T	CCDS10562.2	1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714553	0.48622	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.94	0.45596	5.91	3.94	0.45596	.	0.365309	0.27219	N	0.020377	T	0.51024	0.1650	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.50369	0.05;0.934;0.934;0.934;0.891	B;P;P;P;P	0.55923	0.067;0.688;0.787;0.787;0.49	T	0.44283	-0.9338	9	0.72032	D	0.01	.	11.7683	0.51943	0.0:0.8098:0.124:0.0662	.	203;203;204;203;203	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	204;204;203;26;204;204;204	.	ENSP00000315718:G203V	G	-	2	0	0	KIAA0430	15637234	15637234	0.973000	0.33851	0.001000	0.08648	0.957000	0.61999	3.123000	0.50453	0.815000	0.34398	0.655000	0.94253	GGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_014647			97	95		316	306	1		1	1		0	0	75	0		1	9.999698e-01	0	12	0	40	0	97	316
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396353.2	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_ENST00000396355.1_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|CTB-193M12.3_ENST00000576454.1_RNA|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	145	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498																																						ENST00000396353.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(433-435)gCc>gTc		nudE neurodevelopment protein 1							83.0	85.0	84.0					16																	15781279		2197	4300	6497	SO:0001583	missense	54820	0	0					g.chr16:15781279C>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.434C>T	chr16.hg19:g.15781279C>T	ENSP00000379641:p.Ala145Val	0					CTB-193M12.3_ENST00000576454.1_RNA|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V|NDE1_ENST00000396355.1_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V	p.A145V			1	2	3	2.056757	Q9NXR1	NDE1_HUMAN		6	1260	+			Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	1	1	hg19	c.434C>T		1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294382	0.81025	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.051998	0.85682	D	0.000000	T	0.60196	0.2250	M	0.69463	2.115	0.80722	D	1	B;D	0.58620	0.299;0.983	B;B	0.42522	0.013;0.39	T	0.62765	-0.6785	9	0.40728	T	0.16	-51.7478	19.1736	0.93590	0.0:1.0:0.0:0.0	.	145;145	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	V	145	.	ENSP00000345892:A145V	A	+	2	0	0	NDE1	15688780	15688780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	2.766000	0.95052	0.591000	0.81541	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_017668			61	61		246	239	1		1	1		0	0	58	0		1	9.999993e-01	0	14	0	73	0	61	246
MYH11	4629	broad.mit.edu	37	16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000300036.5	-	33	4799	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1564					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)			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						ACTTCCAGCCGCAGTTTGGCG	0.602			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		0				123						c.(4690-4692)Cgg>Tgg		myosin, heavy chain 11, smooth muscle							110.0	101.0	104.0					16																	15814797		2197	4300	6497	SO:0001583	missense	4629	1	121412	33				g.chr16:15814797G>A	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.4690C>T	chr16.hg19:g.15814797G>A	ENSP00000300036:p.Arg1564Trp	0					MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|NDE1_ENST00000396354.1_Intron	p.R1564W	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		33	4799	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	1	1	hg19	c.4690C>T	CCDS10565.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946232	0.73672	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	2.73	0.32206	4.97	2.73	0.32206	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94435	0.7653	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.5351:0.4649	.	1571;1564;1571;1564;1571	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	1564;1564;1571;1571;1571	ENSP00000300036:R1564W;ENSP00000345136:R1564W;ENSP00000379616:R1571W;ENSP00000407821:R1571W	ENSP00000300036:R1564W	R	-	1	2	2	MYH11	15722298	15722298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.928000	0.40104	1.056000	0.40484	0.561000	0.74099	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.442073	1	0.170000	NM_001040113			111	107		479	474	1		1	0		0	0	109	0		1	1	0	1	0	270	0	111	479
MYH11	4629	broad.mit.edu	37	16	15826526	15826526	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000300036.5	-	27	3655	c.3546C>A	c.(3544-3546)gcC>gcA	p.A1182A	MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000576790.2_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.A1189A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1182					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)			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						CTTCATCCAGGGCCTTCTTCA	0.597			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		0				123						c.(3544-3546)gcC>gcA		myosin, heavy chain 11, smooth muscle							181.0	131.0	148.0					16																	15826526		2197	4300	6497	SO:0001819	synonymous_variant	4629	0	0					g.chr16:15826526G>T	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.3546C>A	chr16.hg19:g.15826526G>T		0					MYH11_ENST00000576790.2_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000396324.3_Silent_p.A1189A	p.A1182A	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		27	3655	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	1	1	hg19	c.3546C>A	CCDS10565.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.556995	1	0.170000	NM_001040113			106	103		406	394	1		1	1		0	0	104	0		1	1	0	6	0	222	0	106	406
MYH11	4629	broad.mit.edu	37	16	15829434	15829434	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000300036.5	-	26	3404	c.3295C>A	c.(3295-3297)Ctt>Att	p.L1099I	MYH11_ENST00000396324.3_Splice_Site_p.L1106I|MYH11_ENST00000576790.2_Splice_Site_p.L1099I|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.L1106I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1099					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)			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						TCATCGTCAAGCCTTCCAGGG	0.542			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		0				123						c.(3295-3297)Ctt>Att		myosin, heavy chain 11, smooth muscle							57.0	60.0	59.0					16																	15829434		2197	4300	6497	SO:0001630	splice_region_variant	4629	5	121412	40				g.chr16:15829434G>T	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.3294-1C>A	chr16.hg19:g.15829434G>T		0					MYH11_ENST00000576790.2_Splice_Site_p.L1099I|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.L1106I|MYH11_ENST00000396324.3_Splice_Site_p.L1106I	p.L1099I	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		26	3404	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Splice_Site	SNP	ENST00000300036.5	1	0	hg19	c.3295C>A	CCDS10565.1	1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550723	0.13374	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.51	5.51	0.81932	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	N	0.20986	0.625	0.53005	D	0.999961	B;B;B;B;B	0.11235	0.002;0.004;0.004;0.002;0.002	B;B;B;B;B	0.18263	0.021;0.02;0.02;0.02;0.012	T	0.72357	-0.4318	10	0.02654	T	1	.	18.4136	0.90561	0.0:0.0:1.0:0.0	.	1106;1099;1106;1099;1106	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1099;1099;1106;1106;1106	ENSP00000300036:L1099I;ENSP00000345136:L1099I;ENSP00000379616:L1106I;ENSP00000407821:L1106I	ENSP00000300036:L1099I	L	-	1	0	0	MYH11	15736935	15736935	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	1.568000	0.36418	2.593000	0.87608	0.442000	0.29010	CTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_001040113	Missense_Mutation		96	96		375	370	0		1	1		0	0	72	0		1	1	0	2	0	206	0	96	375
MYH11	4629	broad.mit.edu	37	16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000300036.5	-	18	2295	c.2186A>C	c.(2185-2187)gAg>gCg	p.E729A	MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000576790.2_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	729	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)			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						CGCCAGGATCTCGTAGCTTGA	0.607			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		0				123						c.(2185-2187)gAg>gCg		myosin, heavy chain 11, smooth muscle							82.0	75.0	77.0					16																	15841795		2197	4300	6497	SO:0001583	missense	4629	0	0					g.chr16:15841795T>G	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.2186A>C	chr16.hg19:g.15841795T>G	ENSP00000300036:p.Glu729Ala	0					MYH11_ENST00000576790.2_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A	p.E729A	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		18	2295	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	1	1	hg19	c.2186A>C	CCDS10565.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634848	0.87760	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.82	4.82	0.62117	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91576	0.5275	10	0.72032	D	0.01	.	13.5925	0.61967	0.0:0.0:0.0:1.0	.	736;729;736;729;736	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	729;729;736;736;736	ENSP00000300036:E729A;ENSP00000345136:E729A;ENSP00000379616:E736A;ENSP00000407821:E736A	ENSP00000300036:E729A	E	-	2	0	0	MYH11	15749296	15749296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.024000	0.88770	1.806000	0.52798	0.459000	0.35465	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-20.000000	1	0.170000	NM_001040113			66	66		330	323	1		1	0		0	0	64	0		1	1	0	0	0	186	0	66	330
MYH11	4629	broad.mit.edu	37	16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000300036.5	-	16	2013	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000576790.2_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	635	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.T635M(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						CGAGCTCTCCGTCATCTTGGC	0.627			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		1	Substitution - Missense(1)	p.T635M(1)	large_intestine(1)	123						c.(1903-1905)aCg>aTg		myosin, heavy chain 11, smooth muscle							93.0	69.0	77.0					16																	15844149		2197	4300	6497	SO:0001583	missense	4629	4	121404	36				g.chr16:15844149G>A	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.1904C>T	chr16.hg19:g.15844149G>A	ENSP00000300036:p.Thr635Met	0					MYH11_ENST00000576790.2_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M	p.T635M	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		16	2013	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	0	1	hg19	c.1904C>T	CCDS10565.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993385	0.74703	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	5.47	0.80525	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.123826	0.53938	D	0.000050	D	0.87313	0.6146	L	0.47190	1.495	0.80722	D	1	D;P;P;P;P;P	0.54397	0.966;0.619;0.619;0.619;0.904;0.619	P;P;P;P;P;P	0.49799	0.622;0.5;0.5;0.5;0.5;0.5	D	0.88077	0.2804	10	0.56958	D	0.05	.	15.4747	0.75468	0.0:0.1387:0.8613:0.0	.	642;635;635;642;635;642	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	635;635;642;642;642	ENSP00000300036:T635M;ENSP00000345136:T635M;ENSP00000379616:T642M;ENSP00000407821:T642M	ENSP00000300036:T635M	T	-	2	0	0	MYH11	15751650	15751650	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.660000	0.74417	2.571000	0.86741	0.561000	0.74099	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-14.954080	1	0.170000	NM_001040113			23	23		110	110	0		1	0		0	0	13	0		9.999997e-01	1	0	0	0	156	0	23	110
MYH11	4629	broad.mit.edu	37	16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000300036.5	-	12	1427	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000576790.2_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	440	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)			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						GCTTTGTTCACGCGGGTGAGT	0.552			T	CBFB	AML																																	ENST00000300036.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p13.13-p13.12	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""				L	L	CBFB		AML		0				123						c.(1318-1320)Gtg>Atg		myosin, heavy chain 11, smooth muscle							118.0	105.0	109.0					16																	15853516		2197	4300	6497	SO:0001583	missense	4629	0	0					g.chr16:15853516C>T	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.1318G>A	chr16.hg19:g.15853516C>T	ENSP00000300036:p.Val440Met	0					MYH11_ENST00000576790.2_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M	p.V440M	NM_002474.2	NP_002465.1	1	2	3	2.056757	P35749	MYH11_HUMAN		12	1427	-			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	1	1	hg19	c.1318G>A	CCDS10565.1	1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520021	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.997;0.997;0.997;0.997;0.981	D;D;D;D;P;P	0.63703	0.917;0.917;0.917;0.917;0.891;0.879	D	0.87710	0.2566	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	447;440;440;447;440;447	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	440;440;447;447;447	ENSP00000300036:V440M;ENSP00000345136:V440M;ENSP00000379616:V447M;ENSP00000407821:V447M	ENSP00000300036:V440M	V	-	1	0	0	MYH11	15761017	15761017	0.944000	0.32072	0.966000	0.40874	0.496000	0.33645	2.105000	0.41825	2.706000	0.92434	0.561000	0.74099	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_001040113			107	106		458	447	1		1	0		0	0	107	0		1	1	0	1	0	190	0	107	458
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCCGGAACTCGATCTGCCCG	0.627																																						ENST00000205557.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(3796-3798)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 6	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)						48.0	42.0	44.0					16																	16251606		2197	4300	6497	SO:0001583	missense	368	7	121412	36				g.chr16:16251606C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3796G>A	chr16.hg19:g.16251606C>T	ENSP00000205557:p.Glu1266Lys	0						p.E1266K	NM_001171.5	NP_001162	1	2	3	2.056757	O95255	MRP6_HUMAN		27	3825	-			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	1	1	hg19	c.3796G>A	CCDS10568.1	1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056895	0.76074	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90955	-2.76	5.09	4.13	0.48395	5.09	4.13	0.48395	ABC transporter-like (1);	0.000000	0.47852	U	0.000214	D	0.86079	0.5847	L	0.45352	1.415	0.80722	D	1	D	0.55385	0.971	B	0.39258	0.295	D	0.86918	0.2065	10	0.87932	D	0	.	14.3582	0.66752	0.1485:0.8515:0.0:0.0	.	1266	O95255	MRP6_HUMAN	K	1266;204	ENSP00000205557:E1266K	ENSP00000205557:E1266K	E	-	1	0	0	ABCC6	16159107	16159107	0.399000	0.25287	0.836000	0.33094	0.891000	0.51852	1.188000	0.32102	1.151000	0.42436	0.530000	0.56133	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				51	51		172	169	1		1	0		0	0	39	0		1	5.805080e-01	0	1	0	7	0	51	172
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	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)	92					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478																																						ENST00000399953.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				6						c.(274-276)Cga>Tga		nitrogen permease regulator-like 3 (S. cerevisiae)							87.0	89.0	88.0					16																	169169		1955	4146	6101	SO:0001587	stop_gained	8131	0	0					g.chr16:169169G>A		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.274C>T	chr16.hg19:g.169169G>A	ENSP00000382834:p.Arg92*	0					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	p.R92*	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	1	2	3	2.056757	Q12980	NPRL3_HUMAN		3	676	-			D3DU40|Q1W6H0|Q4TT56|Q92469	Nonsense_Mutation	SNP	ENST00000399953.3	0	1	hg19	c.274C>T		1	.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	2	NPRL3	109169	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-16.710270	1	0.170000	NM_001039476			21	21		67	67	1		1	0		0	0	21	0		9.999992e-01	9.999946e-01	0	1	0	73	0	21	67
IFT140	9742	broad.mit.edu	37	16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	358					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)				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)				GGGCTGCCCAGGAAGTCTGGT	0.567																																						ENST00000426508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1072-1074)Ctg>Atg		intraflagellar transport 140							111.0	99.0	103.0					16																	1636214		2199	4300	6499	SO:0001583	missense	9742	0	0					g.chr16:1636214G>T	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.1072C>A	chr16.hg19:g.1636214G>T	ENSP00000406012:p.Leu358Met	0					IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	p.L358M	NM_014714.3	NP_055529.2	1	2	3	2.056757	Q96RY7	IF140_HUMAN		10	1435	-		Hepatocellular(780;0.219)	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	1	1	hg19	c.1072C>A	CCDS10439.1	1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58506	0.33	5.13	3.06	0.35304	5.13	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);	1.556770	0.03386	N	0.201114	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.29353	0.101	T	0.45556	-0.9253	10	0.33141	T	0.24	.	14.1787	0.65559	0.0:0.2861:0.7139:0.0	.	358	Q96RY7	IF140_HUMAN	M	358	ENSP00000406012:L358M	ENSP00000380562:L358M	L	-	1	2	2	IFT140	1576215	1576215	0.197000	0.23362	0.001000	0.08648	0.003000	0.03518	2.310000	0.43708	0.496000	0.27904	0.591000	0.81541	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_014714			98	95		454	439	1		1	1		0	0	93	0		1	9.998910e-01	0	23	0	40	0	98	454
CRAMP1L	57585	broad.mit.edu	37	16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	268						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AATGCAACAAAGCTGAATGAA	0.363																																						ENST00000397412.3	1.000000	0.190000	1	2.800000e-01	0.400000	0.498776	0.400000	0.360000																										0				22						c.(802-804)aAg>aCg		Crm, cramped-like (Drosophila)							134.0	134.0	134.0					16																	1691164		1866	4114	5980	SO:0001583	missense	57585	0	0					g.chr16:1691164A>C	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.803A>C	chr16.hg19:g.1691164A>C	ENSP00000380559:p.Lys268Thr	0					LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T	p.K268T			1	2	3	2.056757	Q96RY5	CRML_HUMAN		6	902	+			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	1	1	hg19	c.803A>C	CCDS10440.2	0	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	T	0.76421	0.3985	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.79485	-0.1784	9	0.87932	D	0	-21.7209	15.5282	0.75928	1.0:0.0:0.0:0.0	.	268	Q96RY5	CRML_HUMAN	T	268;268;265	.	ENSP00000293925:K268T	K	+	2	0	0	CRAMP1L	1631165	1631165	1.000000	0.71417	0.967000	0.41034	0.582000	0.36321	8.836000	0.92105	2.076000	0.62316	0.459000	0.35465	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.191400	1	0.170000				9	9		290	286	0		1	1		0	0	52	0		9.940508e-01	1.453968e-01	0	4	0	16	0	9	290
CRAMP1L	57585	broad.mit.edu	37	16	1705257	1705257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1705257A>G	ENST00000397412.3	+	9	1174	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|CRAMP1L_ENST00000262317.4_5'Flank|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	359						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCAGCCTCATCGAATTCTT	0.532																																						ENST00000397412.3	1.000000	0.160000	1	2.500000e-01	0.360000	0.464567	0.360000	0.320000																										0				22						c.(1075-1077)Atc>Gtc		Crm, cramped-like (Drosophila)							113.0	115.0	115.0					16																	1705257		2042	4176	6218	SO:0001583	missense	57585	0	0					g.chr16:1705257A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1075A>G	chr16.hg19:g.1705257A>G	ENSP00000380559:p.Ile359Val	0					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|CRAMP1L_ENST00000262317.4_5'Flank|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V	p.I359V			1	2	3	2.056757	Q96RY5	CRML_HUMAN		9	1174	+			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	0	1	hg19	c.1075A>G	CCDS10440.2	0	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354142	0.82243	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.60455	1.87	0.80722	D	1	P	0.38597	0.639	B	0.33890	0.172	T	0.59573	-0.7429	9	0.72032	D	0.01	-27.0427	13.1975	0.59746	0.8676:0.1324:0.0:0.0	.	359	Q96RY5	CRML_HUMAN	V	359;359;356	.	ENSP00000293925:I359V	I	+	1	0	0	CRAMP1L	1645258	1645258	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.344000	0.79328	2.228000	0.72767	0.533000	0.62120	ATC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-9.442693	1	0.170000				9	9		326	320	0		1	0		0	0	57	0		9.938935e-01	1.216238e-01	0	0	0	20	0	9	326
CRAMP1L	57585	broad.mit.edu	37	16	1719150	1719150	+	Silent	SNP	G	G	A	rs200957173	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1719150G>A	ENST00000397412.3	+	19	3582	c.3483G>A	c.(3481-3483)tcG>tcA	p.S1161S	CRAMP1L_ENST00000293925.5_Silent_p.S1161S|CRAMP1L_ENST00000262317.4_Silent_p.S536S|CRAMP1L_ENST00000436138.3_Silent_p.S1158S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1161	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCGACTCCTCGCTCAGCAGCC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		14934	0.0		0.002	False		,,,				2504	0.0					ENST00000397412.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998958	0.990000	1.000000																										0				22						c.(3481-3483)tcG>tcA		Crm, cramped-like (Drosophila)		G		1,3975		0,1,1987	35.0	42.0	39.0		3483	-11.5	0.1	16	dbSNP_134	39	14,8278		0,14,4132	no	coding-synonymous	CRAMP1L	NM_020825.3		0,15,6119	AA,AG,GG		0.1688,0.0252,0.1223		1161/1270	1719150	15,12253	1988	4146	6134	SO:0001819	synonymous_variant	57585	154	120874	47				g.chr16:1719150G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3483G>A	chr16.hg19:g.1719150G>A		0					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.S1161S|CRAMP1L_ENST00000262317.4_Silent_p.S536S|CRAMP1L_ENST00000436138.3_Silent_p.S1158S	p.S1161S			1	2	3	2.056757	Q96RY5	CRML_HUMAN		19	3582	+			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	1	0	hg19	c.3483G>A	CCDS10440.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-3.143572	1	0.170000				12	12		58	56	1		1	1		0	0	15	0		9.992845e-01	8.840475e-01	0	3	0	18	0	12	58
ABCC6	368	broad.mit.edu	37	16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	728	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CAGGGCACAGGCTTCTAGTAC	0.582																																						ENST00000205557.7	1.000000	0.200000	1	2.800000e-01	0.400000	0.493640	0.400000	0.360000																										0				43						c.(2182-2184)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)						86.0	81.0	82.0					16																	16276333		2197	4300	6497	SO:0001583	missense	368	0	0					g.chr16:16276333G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2183C>T	chr16.hg19:g.16276333G>A	ENSP00000205557:p.Ala728Val	0					ABCC6_ENST00000574094.1_Intron	p.A728V	NM_001171.5	NP_001162	1	2	3	2.056757	O95255	MRP6_HUMAN		17	2212	-			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	1	1	hg19	c.2183C>T	CCDS10568.1	0	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136748	0.56936	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.94046	-3.34;-3.34	4.62	4.62	0.57501	4.62	4.62	0.57501	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48767	U	0.000164	D	0.94693	0.8288	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95589	0.8653	10	0.87932	D	0	.	16.2357	0.82371	0.0:0.0:1.0:0.0	.	728	O95255	MRP6_HUMAN	V	728	ENSP00000205557:A728V;ENSP00000405002:A728V	ENSP00000205557:A728V	A	-	2	0	0	ABCC6	16183834	16183834	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	6.247000	0.72411	2.113000	0.64589	0.491000	0.48974	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-3.450509	1	0.170000				11	11		355	350	0		1	0		0	0	102	0		9.982651e-01	2.765096e-02	0	1	0	7	0	11	355
XYLT1	64131	broad.mit.edu	37	16	17211831	17211831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	743					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)			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						CCCAGTCAGTGCCGACCTGAA	0.547																																						ENST00000261381.6	1.000000	0.870000	1	9.900000e-01	0.990000	0.991827	0.990000	1.000000																										0				67						c.(2227-2229)ggC>ggT		xylosyltransferase I							55.0	49.0	51.0					16																	17211831		2197	4300	6497	SO:0001819	synonymous_variant	64131	0	0					g.chr16:17211831G>A	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.2229C>T	chr16.hg19:g.17211831G>A		0						p.G743G	NM_022166.3	NP_071449.1	1	2	3	2.056757	Q86Y38	XYLT1_HUMAN		11	2313	-			Q9H1B6	Silent	SNP	ENST00000261381.6	1	1	hg19	c.2229C>T	CCDS10569.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_022166			25	25		211	208	0		1	0		0	0	60	0		9.999999e-01	9.278818e-01	0	1	0	39	0	25	211
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					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)			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						AATCTCCTGGCGGCAGTGCTT	0.607																																						ENST00000261381.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(829-831)cGc>cAc		xylosyltransferase I							68.0	63.0	65.0					16																	17352928		2197	4300	6497	SO:0001583	missense	64131	2	121068	34				g.chr16:17352928C>T	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.830G>A	chr16.hg19:g.17352928C>T	ENSP00000261381:p.Arg277His	0						p.R277H	NM_022166.3	NP_071449.1	1	2	3	2.056757	Q86Y38	XYLT1_HUMAN		3	914	-			Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	1	1	hg19	c.830G>A	CCDS10569.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823876	0.90873	.	.	ENSG00000103489	ENST00000261381	T	0.07216	3.21	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:1.0:0.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	H	277	ENSP00000261381:R277H	ENSP00000261381:R277H	R	-	2	0	0	XYLT1	17260429	17260429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.988000	0.70579	2.547000	0.85894	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.025038	1	0.170000	NM_022166			83	82		428	421	1		1	1		0	0	96	0		1	9.999280e-01	0	7	0	66	0	83	428
MAPK8IP3	23162	broad.mit.edu	37	16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	57					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642																																						ENST00000250894.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(169-171)Ccg>Tcg		mitogen-activated protein kinase 8 interacting protein 3							69.0	66.0	67.0					16																	1756509		2199	4300	6499	SO:0001583	missense	23162	0	0					g.chr16:1756509C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.169C>T	chr16.hg19:g.1756509C>T	ENSP00000250894:p.Pro57Ser	0					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	p.P57S	NM_015133.3	NP_055948.2	1	2	3	2.056757	Q9UPT6	JIP3_HUMAN		1	326	+			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	1	1	hg19	c.169C>T	CCDS10442.2	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319823	0.81469	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73152	-0.72;-0.72	3.52	3.52	0.40303	3.52	3.52	0.40303	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	D	0.89170	0.3536	10	0.87932	D	0	-23.6301	14.8211	0.70074	0.0:1.0:0.0:0.0	.	57;57;57;57	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	S	57	ENSP00000250894:P57S;ENSP00000348290:P57S	ENSP00000250894:P57S	P	+	1	0	0	MAPK8IP3	1696510	1696510	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.319000	0.79040	1.790000	0.52503	0.185000	0.17295	CCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-4.163628	1	0.170000	NM_001040439			47	47		155	153	1		1	1		0	0	35	0		1	9.404752e-01	0	7	0	11	0	47	155
MAPK8IP3	23162	broad.mit.edu	37	16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1013					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697																																						ENST00000250894.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3037-3039)Ctg>Atg		mitogen-activated protein kinase 8 interacting protein 3							53.0	60.0	57.0					16																	1816924		2100	4210	6310	SO:0001583	missense	23162	0	0					g.chr16:1816924C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3037C>A	chr16.hg19:g.1816924C>A	ENSP00000250894:p.Leu1013Met	0					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	p.L1013M	NM_015133.3	NP_055948.2	1	2	3	2.056757	Q9UPT6	JIP3_HUMAN		25	3194	+			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	1	1	hg19	c.3037C>A	CCDS10442.2	1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921714	0.73213	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38887	1.11;1.11	4.03	4.03	0.46877	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.176079	0.38436	N	0.001696	T	0.64702	0.2622	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.989;0.993;0.998	T	0.71115	-0.4686	10	0.72032	D	0.01	-15.1615	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1014;1007;1013	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	1013;1007	ENSP00000250894:L1013M;ENSP00000348290:L1007M	ENSP00000250894:L1013M	L	+	1	2	2	MAPK8IP3	1756925	1756925	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.686000	0.54685	1.976000	0.57569	0.591000	0.81541	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	0	0	1		18	4	2	1		1	1	99		99	96	1	2.060000	-3.326472	1	0.170000	NM_001040439			85	84		436	423	1		1	1		1	0	99	0		1	9.932508e-01	0	11	0	52	0	85	436
MAPK8IP3	23162	broad.mit.edu	37	16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1032					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622																																						ENST00000250894.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3094-3096)Tgg>Cgg		mitogen-activated protein kinase 8 interacting protein 3							89.0	102.0	98.0					16																	1817158		2122	4236	6358	SO:0001583	missense	23162	0	0					g.chr16:1817158T>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3094T>C	chr16.hg19:g.1817158T>C	ENSP00000250894:p.Trp1032Arg	0					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	p.W1032R	NM_015133.3	NP_055948.2	1	2	3	2.056757	Q9UPT6	JIP3_HUMAN		26	3251	+			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	1	1	hg19	c.3094T>C	CCDS10442.2	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231571	0.79688	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63744	-0.06;-0.06	4.03	4.03	0.46877	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.91635	0.983;0.999;0.998	D	0.84928	0.0858	10	0.87932	D	0	-12.7884	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1033;1026;1032	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	1032;1026	ENSP00000250894:W1032R;ENSP00000348290:W1026R	ENSP00000250894:W1032R	W	+	1	0	0	MAPK8IP3	1757159	1757159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_001040439			152	146		625	619	1		1	1		0	0	121	0		1	9.999117e-01	0	24	0	33	0	152	625
MRPS34	65993	broad.mit.edu	37	16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A	rs368249423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000397375.2	-	3	596	c.561G>T	c.(559-561)gaG>gaT	p.E187D	MRPS34_ENST00000177742.3_Missense_Mutation_p.E194D|EME2_ENST00000307394.7_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	187						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592																																						ENST00000397375.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(559-561)gaG>gaT		mitochondrial ribosomal protein S34							122.0	101.0	108.0					16																	1822318		2196	4299	6495	SO:0001583	missense	65993	0	0					g.chr16:1822318C>A	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.561G>T	chr16.hg19:g.1822318C>A	ENSP00000380531:p.Glu187Asp	0					NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E194D|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_5'Flank	p.E187D	NM_023936.1	NP_076425.1	1	2	3	2.056757	P82930	RT34_HUMAN		3	596	-			Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	1	1	hg19	c.561G>T	CCDS10444.1	1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.846007	0.16963	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.35236	1.32;1.32	4.31	2.18	0.27775	4.31	2.18	0.27775	.	0.734279	0.13004	N	0.421381	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.13710	-1.0499	10	0.38643	T	0.18	-24.4263	3.2935	0.06957	0.3427:0.4531:0.0:0.2042	.	194;187	C9JJ19;P82930	.;RT34_HUMAN	D	187;194	ENSP00000380531:E187D;ENSP00000177742:E194D	ENSP00000177742:E194D	E	-	3	2	2	MRPS34	1762319	1762319	0.999000	0.42202	0.928000	0.36995	0.025000	0.11179	0.828000	0.27435	0.812000	0.34326	-0.258000	0.10820	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_023936			98	98		441	437	1		1	1		0	0	89	0		1	1	0	210	0	414	0	98	441
SPSB3	90864	broad.mit.edu	37	16	1827164	1827164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677																																						ENST00000566339.1	1.000000	0.630000	1	7.600000e-01	0.920000	0.898065	0.920000	1.000000																										0				10						c.(1000-1002)gcG>gcA		splA/ryanodine receptor domain and SOCS box containing 3							37.0	37.0	37.0					16																	1827164		2197	4291	6488	SO:0001819	synonymous_variant	90864	2	120994	32				g.chr16:1827164C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.1002G>A	chr16.hg19:g.1827164C>T		0					SPSB3_ENST00000301717.4_Silent_p.A334A	p.A334A	NM_080861.3	NP_543137.2	1	2	3	2.056757	Q6PJ21	SPSB3_HUMAN		7	1332	-			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	1	1	hg19	c.1002G>A	CCDS32365.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_080861			33	33		414	404	1		1	1		0	0	54	0		1	9.999778e-01	0	39	0	166	0	33	414
SPSB3	90864	broad.mit.edu	37	16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617																																						ENST00000566339.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(703-705)aaG>aaT		splA/ryanodine receptor domain and SOCS box containing 3							76.0	71.0	73.0					16																	1827764		2199	4300	6499	SO:0001583	missense	90864	0	0					g.chr16:1827764C>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.705G>T	chr16.hg19:g.1827764C>A	ENSP00000457206:p.Lys235Asn	0					SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	p.K235N	NM_080861.3	NP_543137.2	1	2	3	2.056757	Q6PJ21	SPSB3_HUMAN		6	1035	-			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	1	1	hg19	c.705G>T	CCDS32365.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779810	0.31502	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69806	-0.43	4.09	2.85	0.33270	4.09	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.58354	1.805	0.48395	D	0.999647	D	0.89917	1.0	D	0.83275	0.996	T	0.73665	-0.3911	10	0.62326	D	0.03	-18.758	5.8281	0.18564	0.0:0.6901:0.0:0.3099	.	235	Q6PJ21	SPSB3_HUMAN	N	235;39	ENSP00000301717:K235N	ENSP00000301717:K235N	K	-	3	2	2	SPSB3	1767765	1767765	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	1.369000	0.34227	1.821000	0.53095	0.561000	0.74099	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_080861			51	49		216	214	1		1	1		0	0	39	0		1	1	0	45	0	138	0	51	216
SPSB3	90864	broad.mit.edu	37	16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	187	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697																																						ENST00000566339.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				10						c.(559-561)Ggc>Agc		splA/ryanodine receptor domain and SOCS box containing 3							57.0	57.0	57.0					16																	1827983		2197	4300	6497	SO:0001583	missense	90864	0	0					g.chr16:1827983C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.559G>A	chr16.hg19:g.1827983C>T	ENSP00000457206:p.Gly187Ser	0					SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	p.G187S	NM_080861.3	NP_543137.2	1	2	3	2.056757	Q6PJ21	SPSB3_HUMAN		5	889	-			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	1	1	hg19	c.559G>A	CCDS32365.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937168	0.92458	.	.	ENSG00000162032	ENST00000301717	D	0.86562	-2.14	4.29	4.29	0.51040	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.94771	3.58	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95015	0.8155	10	0.87932	D	0	-31.5361	10.1509	0.42794	0.0:0.8992:0.0:0.1008	.	187	Q6PJ21	SPSB3_HUMAN	S	187	ENSP00000301717:G187S	ENSP00000301717:G187S	G	-	1	0	0	SPSB3	1767984	1767984	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.487000	0.66863	1.918000	0.55548	0.561000	0.74099	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.080908	1	0.170000	NM_080861			46	46		263	261	1		1	1		0	0	54	0		1	1	0	90	0	147	0	46	263
IGFALS	3483	broad.mit.edu	37	16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T	rs200009743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000215539.3	-	2	1084	c.974G>A	c.(973-975)cGc>cAc	p.R325H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R363H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	325					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667																																						ENST00000215539.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				8						c.(973-975)cGc>cAc		insulin-like growth factor binding protein, acid labile subunit							27.0	30.0	29.0					16																	1841445		2197	4298	6495	SO:0001583	missense	3483	2	121274	28				g.chr16:1841445C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.974G>A	chr16.hg19:g.1841445C>T	ENSP00000215539:p.Arg325His	0					IGFALS_ENST00000415638.3_Missense_Mutation_p.R363H	p.R325H			1	2	3	2.056757	P35858	ALS_HUMAN		2	1084	-			B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	1	1	hg19	c.974G>A	CCDS10446.1	1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412083	0.25465	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58210	0.35;0.35	5.37	3.02	0.34903	5.37	3.02	0.34903	.	0.313999	0.31612	N	0.007360	T	0.59810	0.2221	L	0.58969	1.84	0.23950	N	0.996374	P;D	0.89917	0.768;1.0	B;D	0.70935	0.215;0.971	T	0.49123	-0.8972	10	0.15066	T	0.55	.	7.5217	0.27633	0.0:0.6865:0.1539:0.1596	.	363;325	E9PGU3;P35858	.;ALS_HUMAN	H	325;363	ENSP00000215539:R325H;ENSP00000416683:R363H	ENSP00000215539:R325H	R	-	2	0	0	IGFALS	1781446	1781446	0.933000	0.31639	0.851000	0.33527	0.523000	0.34469	1.883000	0.39658	1.238000	0.43771	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2	1	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-20.000000	1	0.170000				29	29		133	129	1		1	0		0	0	41	0		1	3.033422e-01	0	0	0	6	0	29	133
XYLT1	64131	broad.mit.edu	37	16	17353281	17353281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	159					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)			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						CATTCTCAAAGTCTTTGGGGA	0.502																																						ENST00000261381.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(475-477)gaC>gaT		xylosyltransferase I							140.0	127.0	132.0					16																	17353281		2197	4300	6497	SO:0001819	synonymous_variant	64131	0	0					g.chr16:17353281G>A	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.477C>T	chr16.hg19:g.17353281G>A		0						p.D159D	NM_022166.3	NP_071449.1	1	2	3	2.056757	Q86Y38	XYLT1_HUMAN		3	561	-			Q9H1B6	Silent	SNP	ENST00000261381.6	1	1	hg19	c.477C>T	CCDS10569.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_022166			113	111		448	439	1		1	0		0	0	79	0		1	9.999535e-01	0	1	0	58	0	113	448
HAGH	3029	broad.mit.edu	37	16	1866938	1866938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000397356.3	-	7	1109	c.703G>A	c.(703-705)Gag>Aag	p.E235K	HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*|HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	235					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000397356.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				5						c.(703-705)Gag>Aag		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						101.0	84.0	90.0					16																	1866938		2199	4300	6499	SO:0001583	missense	3029	1	121410	27				g.chr16:1866938C>T	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.703G>A	chr16.hg19:g.1866938C>T	ENSP00000380514:p.Glu235Lys	0					HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*|HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K	p.E235K	NM_005326.4	NP_005317.2	1	2	3	2.056757	Q16775	GLO2_HUMAN		7	1109	-		Hepatocellular(780;0.00335)	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	0	0	hg19	c.703G>A	CCDS10447.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.675775|5.675775	0.96764|0.96764	.|.	.|.	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.96041|.	-3.89;-3.89|.	4.97|4.97	4.97|4.97	0.65823|0.65823	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87305|.	0.6144|.	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.989|.	D|.	0.91263|.	0.5038|.	10|.	0.87932|0.72032	D|D	0|0.01	-1.0464|-1.0464	17.2325|17.2325	0.86988|0.86988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35956038|rs35956038	187;235|.	Q16775-2;Q16775|.	.;GLO2_HUMAN|.	K|X	235;187|198	ENSP00000380514:E235K;ENSP00000380511:E187K|.	ENSP00000380511:E187K|ENSP00000406552:W198X	E|W	-|-	1|3	0|0	0|0	HAGH|HAGH	1806939|1806939	1806939|1806939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.442000|7.442000	0.80503|0.80503	2.313000|2.313000	0.78055|0.78055	0.655000|0.655000	0.94253|0.94253	GAG|TGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_005326			35	35		179	177	1		1	1		0	0	45	0		1	1	0	72	0	175	0	35	179
FAHD1	81889	broad.mit.edu	37	16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000427358.2	+	1	113	c.107G>T	c.(106-108)aGc>aTc	p.S36I	HAGH_ENST00000455446.2_5'Flank|FAHD1_ENST00000382666.4_Missense_Mutation_p.S36I|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|HAGH_ENST00000566709.1_5'Flank|HAGH_ENST00000397353.2_5'Flank|HAGH_ENST00000397356.3_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	36						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647																																						ENST00000427358.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(106-108)aGc>aTc		fumarylacetoacetate hydrolase domain containing 1							65.0	48.0	54.0					16																	1877337		2199	4300	6499	SO:0001583	missense	81889	0	0					g.chr16:1877337G>T	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 36"""	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.107G>T	chr16.hg19:g.1877337G>T	ENSP00000398053:p.Ser36Ile	0					HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|FAHD1_ENST00000382666.4_Missense_Mutation_p.S36I|HAGH_ENST00000397353.2_5'Flank	p.S36I	NM_031208.3	NP_112485.1	1	2	3	2.056757	Q6P587	FAHD1_HUMAN		1	113	+			B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	ENST00000427358.2	1	1	hg19	c.107G>T	CCDS10448.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633616	0.67015	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.111145	0.64402	D	0.000012	T	0.30198	0.0757	L	0.28400	0.85	0.39297	D	0.964838	B;B;B	0.30973	0.108;0.302;0.131	B;B;B	0.29663	0.037;0.105;0.063	T	0.25710	-1.0124	10	0.62326	D	0.03	.	10.0609	0.42275	0.0932:0.0:0.9068:0.0	.	36;36;36	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	36	ENSP00000372114:S36I;ENSP00000372112:S36I;ENSP00000398053:S36I	ENSP00000372112:S36I	S	+	2	0	0	FAHD1	1817338	1817338	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	5.125000	0.64715	2.458000	0.83093	0.655000	0.94253	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_001018104			55	54		241	238	1		1	1		0	0	60	0		1	9.999949e-01	0	34	0	48	0	55	241
NOMO2	283820	broad.mit.edu	37	16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000381474.3	-	19	2272	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000330537.6_Missense_Mutation_p.P736H|NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557																																						ENST00000381474.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(2206-2208)cCt>cAt		NODAL modulator 2							284.0	288.0	287.0					16																	18532153		2196	4298	6494	SO:0001583	missense	283820	0	0					g.chr16:18532153G>T	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.2207C>A	chr16.hg19:g.18532153G>T	ENSP00000370883:p.Pro736His	0					NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H|NOMO2_ENST00000330537.6_Missense_Mutation_p.P736H	p.P736H	NM_001004060.1	NP_001004060.1	1	2	3	2.056757	Q5JPE7	NOMO2_HUMAN		19	2272	-			Q4G177	Missense_Mutation	SNP	ENST00000381474.3	1	1	hg19	c.2207C>A	CCDS32394.1	1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163273	0.38217	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04119	3.72;3.71;3.7	3.37	2.4	0.29515	3.37	2.4	0.29515	.	0.056200	0.64402	D	0.000001	T	0.07143	0.0181	N	0.08118	0	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.45293	-0.9271	10	0.46703	T	0.11	-11.1418	9.5696	0.39420	0.1064:0.0:0.8936:0.0	.	569;736	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	736;736;569	ENSP00000331851:P736H;ENSP00000370883:P736H;ENSP00000439970:P569H	ENSP00000331851:P736H	P	-	2	0	0	NOMO2	18439654	18439654	1.000000	0.71417	0.092000	0.20876	0.179000	0.23085	6.912000	0.75753	0.719000	0.32188	0.455000	0.32223	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	0	0	1		2	2	2	0		0	0	267		267	381	1	2.060000	-20.000000	1	0.170000	NM_001004060			140	136		1074	1029	0		1	1		0	0	267	0		1	1	0	51	0	253	0	140	1074
SMG1	23049	broad.mit.edu	37	16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					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)			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						AGTGTTACTCCGGACTGCTAC	0.473																																						ENST00000446231.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(10627-10629)cGg>cAg		SMG1 phosphatidylinositol 3-kinase-related kinase							96.0	87.0	90.0					16																	18823443		1976	4164	6140	SO:0001583	missense	23049	5	120932	41				g.chr16:18823443C>T	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.10628G>A	chr16.hg19:g.18823443C>T	ENSP00000402515:p.Arg3543Gln	0					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q	p.R3543Q			1	2	3	2.056757	Q96Q15	SMG1_HUMAN		61	11040	-			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	1	1	hg19	c.10628G>A	CCDS45430.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943109	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01265	5.08;5.08	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.094431	0.46758	D	0.000266	T	0.01730	0.0055	L	0.29908	0.895	0.34855	D	0.742045	P	0.49253	0.921	B	0.37780	0.258	T	0.68059	-0.5509	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3543	Q96Q15	SMG1_HUMAN	Q	3543;3544	ENSP00000402515:R3543Q;ENSP00000374118:R3544Q	ENSP00000374118:R3544Q	R	-	2	0	0	SMG1	18730944	18730944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.481000	0.60250	2.941000	0.99782	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-2.375657	0	0.170000	NM_015092			47	47		232	227	1		1	1		0	0	49	0		1	1	0	40	0	108	0	47	232
SMG1	23049	broad.mit.edu	37	16	18840938	18840938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3091					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)			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						TCAAGAGCTGCCTCACAAAGT	0.458																																						ENST00000446231.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				92						c.(9271-9273)agG>agA		SMG1 phosphatidylinositol 3-kinase-related kinase							57.0	57.0	57.0					16																	18840938		1907	4120	6027	SO:0001819	synonymous_variant	23049	0	0					g.chr16:18840938C>T	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.9273G>A	chr16.hg19:g.18840938C>T		0					SMG1_ENST00000389467.3_Silent_p.R3091R	p.R3091R			1	2	3	2.056757	Q96Q15	SMG1_HUMAN		54	9685	-			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	1	1	hg19	c.9273G>A	CCDS45430.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_015092			30	29		155	152	1		1	1		0	0	29	0		1	9.999781e-01	0	22	0	69	0	30	155
SMG1	23049	broad.mit.edu	37	16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2364	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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						ACTCTAAGGCTTTTACCTTGA	0.343																																						ENST00000446231.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(7090-7092)Agc>Cgc		SMG1 phosphatidylinositol 3-kinase-related kinase							170.0	151.0	157.0					16																	18849783		1827	4089	5916	SO:0001583	missense	23049	0	0					g.chr16:18849783T>G	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.7090A>C	chr16.hg19:g.18849783T>G	ENSP00000402515:p.Ser2364Arg	0					SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R	p.S2364R			1	2	3	2.056757	Q96Q15	SMG1_HUMAN		44	7502	-			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	1	1	hg19	c.7090A>C	CCDS45430.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078884	0.76528	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.74632	-0.86;-0.86	5.87	5.87	0.94306	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.02842	-0.48	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71248	-0.4649	10	0.17369	T	0.5	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2364	Q96Q15	SMG1_HUMAN	R	2364	ENSP00000402515:S2364R;ENSP00000374118:S2364R	ENSP00000374118:S2364R	S	-	1	0	0	SMG1	18757284	18757284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.371000	0.80710	0.533000	0.62120	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_015092			73	72		276	274	1		1	1		0	0	72	0		1	9.998230e-01	0	11	0	40	0	73	276
SMG1	23049	broad.mit.edu	37	16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					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)			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						CTCCCAGGCTTTGCAGGGTTC	0.428																																						ENST00000446231.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(6187-6189)Aag>Gag		SMG1 phosphatidylinositol 3-kinase-related kinase							73.0	68.0	70.0					16																	18856783		1864	4100	5964	SO:0001583	missense	23049	0	0					g.chr16:18856783T>C	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.6187A>G	chr16.hg19:g.18856783T>C	ENSP00000402515:p.Lys2063Glu	0					SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E	p.K2063E			1	2	3	2.056757	Q96Q15	SMG1_HUMAN		39	6599	-			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	1	1	hg19	c.6187A>G	CCDS45430.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152266	0.78001	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.79	5.79	0.91817	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01627	0.0052	L	0.38175	1.15	0.42668	D	0.993502	B;B	0.25809	0.135;0.039	B;B	0.25405	0.06;0.027	T	0.66056	-0.6018	10	0.31617	T	0.26	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1923;2063	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2063	ENSP00000402515:K2063E;ENSP00000374118:K2063E	ENSP00000374118:K2063E	K	-	1	0	0	SMG1	18764284	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_015092			50	50		211	211	1		1	1		0	0	55	0		1	9.993783e-01	0	18	0	32	0	50	211
TMC7	79905	broad.mit.edu	37	16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000304381.5	+	12	1737	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R	TMC7_ENST00000421369.3_Missense_Mutation_p.Q426R|TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	536					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532																																						ENST00000304381.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1606-1608)cAg>cGg		transmembrane channel-like 7							230.0	229.0	229.0					16																	19058438		2197	4300	6497	SO:0001583	missense	79905	1	121412	36				g.chr16:19058438A>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1607A>G	chr16.hg19:g.19058438A>G	ENSP00000304710:p.Gln536Arg	0					TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R|TMC7_ENST00000421369.3_Missense_Mutation_p.Q426R	p.Q536R	NM_024847.3	NP_079123.3	1	2	3	2.056757	Q7Z402	TMC7_HUMAN		12	1737	+			E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	1	1	hg19	c.1607A>G	CCDS10573.1	1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752720	0.89753	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64803	-0.12;-0.12	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.85373	2.75	0.58432	D	0.999997	D;P	0.53151	0.958;0.915	P;P	0.62560	0.904;0.885	D	0.83469	0.0058	10	0.72032	D	0.01	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	536;536	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	536;426	ENSP00000304710:Q536R;ENSP00000397081:Q426R	ENSP00000304710:Q536R	Q	+	2	0	0	TMC7	18965939	18965939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.146000	0.66826	0.533000	0.62120	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	1	0	1		2	2	2	0		0	0	260		260	257	1	2.060000	-20.000000	1	0.170000	NM_024847			284	279		1121	1095	1		1	1		0	0	260	0		1	9.952835e-01	0	15	0	19	0	284	1121
SYT17	51760	broad.mit.edu	37	16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T	rs374172730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000355377.2	+	5	1143	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SYT17_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000562034.1_Missense_Mutation_p.R188C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			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						CGGGGTCAAACGCAAGACCCA	0.597																																						ENST00000355377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(745-747)Cgc>Tgc		synaptotagmin XVII			CYS/ARG	0,4394		0,0,2197	125.0	114.0	118.0		745	5.7	1.0	16		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT17	NM_016524.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	249/475	19195263	1,12993	2197	4300	6497	SO:0001583	missense	51760	5	121412	42				g.chr16:19195263C>T		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.745C>T	chr16.hg19:g.19195263C>T	ENSP00000347538:p.Arg249Cys	0					SYT17_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000562034.1_Missense_Mutation_p.R188C	p.R249C	NM_016524.2	NP_057608.2	1	2	3	2.056757	Q9BSW7	SYT17_HUMAN		5	1143	+			O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	1	1	hg19	c.745C>T	CCDS10575.1	1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.855826	0.71834	0.0	1.16E-4	ENSG00000103528	ENST00000355377	T	0.70749	-0.51	5.65	5.65	0.86999	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.74558	0.3732	M	0.65975	2.015	0.80722	D	1	B;B	0.24618	0.107;0.061	B;B	0.31946	0.095;0.138	T	0.73033	-0.4110	10	0.87932	D	0	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	249	ENSP00000347538:R249C	ENSP00000347538:R249C	R	+	1	0	0	SYT17	19102764	19102764	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.747000	0.62141	2.661000	0.90470	0.558000	0.71614	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	1	0	1		2	2	2	0		0	0	159		159	154	1	2.060000	-20.000000	1	0.170000	NM_016524			139	137		722	709	1		1	0		0	0	159	0		1	5.520699e-01	0	1	0	10	0	139	722
C16orf62	57020	broad.mit.edu	37	16	19702706	19702706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000251143.5	+	29	2571	c.2559C>T	c.(2557-2559)gaC>gaT	p.D853D	C16orf62_ENST00000438132.3_Silent_p.D942D|C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000417362.2_Silent_p.D760D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	853						integral component of membrane (GO:0016021)				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						ACGGGGGAGACTCCAAGTTCC	0.577																																						ENST00000251143.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2557-2559)gaC>gaT		chromosome 16 open reading frame 62							124.0	99.0	108.0					16																	19702706		2197	4300	6497	SO:0001819	synonymous_variant	57020	0	0					g.chr16:19702706C>T		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.2559C>T	chr16.hg19:g.19702706C>T		0					C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000438132.3_Silent_p.D942D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000542263.1_Silent_p.D849D	p.D853D			1	2	3	2.056757	Q7Z3J2	CP062_HUMAN		29	2571	+			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	1	1	hg19	c.2559C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020314			50	50		151	145	1		1	1		0	0	44	0		1	1	0	18	0	168	0	50	151
C16orf62	57020	broad.mit.edu	37	16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T	rs377505002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000251143.5	+	30	2668	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	C16orf62_ENST00000438132.3_Missense_Mutation_p.R975C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	886						integral component of membrane (GO:0016021)				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						GGCCCTGAAGCGCCAGAGCTC	0.582																																						ENST00000251143.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				36						c.(2656-2658)Cgc>Tgc		chromosome 16 open reading frame 62		C	CYS/ARG	0,4394		0,0,2197	88.0	78.0	81.0		2923	4.6	1.0	16		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf62	NM_020314.5	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/1053	19710833	1,12993	2197	4300	6497	SO:0001583	missense	57020	2	121412	37				g.chr16:19710833C>T		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.2656C>T	chr16.hg19:g.19710833C>T	ENSP00000251143:p.Arg886Cys	0					C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R975C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C	p.R886C			1	2	3	2.056757	Q7Z3J2	CP062_HUMAN		30	2668	+			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	1	1	hg19	c.2656C>T		1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316318	0.81469	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.67698	-0.28;0.6;-0.28;0.6;-0.28	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59288	0.736;0.855	T	0.80603	-0.1309	9	.	.	.	-15.6426	17.699	0.88289	0.0:1.0:0.0:0.0	.	882;886	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	975;882;886;793;736	ENSP00000400815:R975C;ENSP00000442468:R882C;ENSP00000251143:R886C;ENSP00000395973:R793C;ENSP00000398009:R736C	.	R	+	1	0	0	C16orf62	19618334	19618334	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.790000	0.47821	2.225000	0.72522	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_020314			36	36		208	200	1		1	1		0	0	57	0		1	9.999974e-01	0	38	0	80	0	36	208
IQCK	124152	broad.mit.edu	37	16	19838353	19838353	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000320394.6	+	9	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_ENST00000541926.1_Missense_Mutation_p.A204V|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	232										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448																																						ENST00000320394.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(694-696)cgC>cgT		IQ motif containing K							120.0	116.0	118.0					16																	19838353		2197	4300	6497	SO:0001819	synonymous_variant	124152	0	0					g.chr16:19838353C>T	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.696C>T	chr16.hg19:g.19838353C>T		0					IQCK_ENST00000541926.1_Missense_Mutation_p.A204V|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000562762.1_3'UTR	p.R232R	NM_153208.1	NP_694940.1	1	2	3	2.056757	Q8N0W5	IQCK_HUMAN		9	1395	+			B2RDU0|O43327|Q8NFF4	Silent	SNP	ENST00000320394.6	1	1	hg19	c.696C>T	CCDS10580.1	1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554189	0.45487	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.24	0.28232	5.73	2.24	0.28232	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.34093	0.175	T	0.06935	-1.0799	6	.	.	.	-17.3005	3.5784	0.07943	0.0:0.4875:0.2148:0.2977	.	204	B4DXE1	.	V	204	.	.	A	+	2	0	0	IQCK	19745854	19745854	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	0.930000	0.28858	0.867000	0.35654	0.655000	0.94253	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_153208			82	82		394	385	1		1	1		0	0	92	0		1	9.941074e-01	0	8	0	32	0	82	394
GPRC5B	51704	broad.mit.edu	37	16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	310					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617																																						ENST00000300571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(928-930)aCg>aTg		G protein-coupled receptor, class C, group 5, member B							82.0	75.0	78.0					16																	19883239		2197	4300	6497	SO:0001583	missense	51704	1	121412	34				g.chr16:19883239G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.929C>T	chr16.hg19:g.19883239G>A	ENSP00000300571:p.Thr310Met	0					GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M	p.T310M	NM_016235.1	NP_057319.1	1	2	3	2.056757	Q9NZH0	GPC5B_HUMAN		2	1120	-			D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	1	1	hg19	c.929C>T	CCDS10581.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327035	0.81690	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.056857	0.64402	D	0.000001	T	0.50667	0.1629	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.83275	0.877;0.996	T	0.35773	-0.9775	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	336;310	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	310;310;159;336	ENSP00000300571:T310M;ENSP00000442858:T310M;ENSP00000441775:T336M	.	T	-	2	0	0	GPRC5B	19790740	19790740	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.371000	0.79600	2.688000	0.91661	0.655000	0.94253	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-20.000000	1	0.170000				96	94		371	363	1		1	1		0	0	82	0		1	9.999984e-01	0	3	0	73	0	96	371
GPRC5B	51704	broad.mit.edu	37	16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	273					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622																																						ENST00000300571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(817-819)gCc>gTc		G protein-coupled receptor, class C, group 5, member B							70.0	76.0	74.0					16																	19883350		2197	4300	6497	SO:0001583	missense	51704	0	0					g.chr16:19883350G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.818C>T	chr16.hg19:g.19883350G>A	ENSP00000300571:p.Ala273Val	0					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V	p.A273V	NM_016235.1	NP_057319.1	1	2	3	2.056757	Q9NZH0	GPC5B_HUMAN		2	1009	-			D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	1	1	hg19	c.818C>T	CCDS10581.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551288	0.86127	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88431	-2.38;-2.38;-2.38	5.18	5.18	0.71444	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.977	D	0.94209	0.7457	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	299;273	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	273;273;122;299	ENSP00000300571:A273V;ENSP00000442858:A273V;ENSP00000441775:A299V	.	A	-	2	0	0	GPRC5B	19790851	19790851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000				57	57		215	212	1		1	1		0	0	36	0		1	9.996605e-01	0	2	0	46	0	57	215
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	249					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622																																						ENST00000300571.2	1.000000	0.820000	1	9.900000e-01	0.990000	0.986533	0.990000	1.000000																										0				25						c.(745-747)Gcc>Acc		G protein-coupled receptor, class C, group 5, member B							103.0	106.0	105.0					16																	19883423		2197	4300	6497	SO:0001583	missense	51704	0	0					g.chr16:19883423C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.745G>A	chr16.hg19:g.19883423C>T	ENSP00000300571:p.Ala249Thr	0					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T	p.A249T	NM_016235.1	NP_057319.1	1	2	3	2.056757	Q9NZH0	GPC5B_HUMAN		2	936	-			D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	1	1	hg19	c.745G>A	CCDS10581.1	1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	0	GPRC5B	19790924	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-10.593960	1	0.170000				25	24		224	221	0		1	0		0	0	35	0		9.999999e-01	9.784540e-01	0	1	0	57	0	25	224
RPL3L	6123	broad.mit.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000361871.3_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					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)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627																																						ENST00000268661.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1042-1044)aGa>aTa		ribosomal protein L3-like							139.0	119.0	126.0					16																	1995840		2199	4300	6499	SO:0001583	missense	6123	0	0					g.chr16:1995840C>A	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.1043G>T	chr16.hg19:g.1995840C>A	ENSP00000268661:p.Arg348Ile	0					MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank	p.R348I	NM_005061.2	NP_005052.1	1	2	3	2.056757	Q92901	RL3L_HUMAN		8	1137	-				Missense_Mutation	SNP	ENST00000268661.7	1	1	hg19	c.1043G>T	CCDS10450.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	0	RPL3L	1935841	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.643442	1	0.170000	NM_005061			102	99		407	397	1		1			0	0	93	0		1	0	0	0	0	0	0	102	407
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					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)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.001					ENST00000268661.7	1.000000	0.410000	1	5.100000e-01	0.630000	0.684023	0.630000	0.600000																										0				17						c.(745-747)cGc>cAc		ribosomal protein L3-like		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55.0	58.0	57.0		746	4.0	1.0	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense	6123	16	121392	44				g.chr16:1997042C>T	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.746G>A	chr16.hg19:g.1997042C>T	ENSP00000268661:p.Arg249His	0						p.R249H	NM_005061.2	NP_005052.1	1	2	3	2.056757	Q92901	RL3L_HUMAN		6	840	-				Missense_Mutation	SNP	ENST00000268661.7	1	1	hg19	c.746G>A	CCDS10450.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	0	RPL3L	1937043	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-5.528184	1	0.170000	NM_005061			27	27		511	506	0		1			0	0	89	0		1	0	0	0	0	0	0	27	511
GPRC5B	51704	broad.mit.edu	37	16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A	rs200327225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	80					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637																																						ENST00000300571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R80W(1)	endometrium(1)	25						c.(238-240)Cgg>Tgg		G protein-coupled receptor, class C, group 5, member B		G	TRP/ARG	1,4393		0,1,2196	38.0	43.0	41.0		238	2.3	1.0	16		41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPRC5B	NM_016235.1	101	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	80/404	19883930	3,12991	2197	4300	6497	SO:0001583	missense	51704	27	121412	45				g.chr16:19883930G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.238C>T	chr16.hg19:g.19883930G>A	ENSP00000300571:p.Arg80Trp	0					GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W	p.R80W	NM_016235.1	NP_057319.1	1	2	3	2.056757	Q9NZH0	GPC5B_HUMAN		2	429	-			D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	1	1	hg19	c.238C>T	CCDS10581.1	1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446399	0.63178	2.28E-4	2.33E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89552	-2.53;-2.53;-2.53	5.8	2.32	0.28847	5.8	2.32	0.28847	GPCR, family 3, C-terminal (1);	0.063725	0.64402	D	0.000012	D	0.92492	0.7616	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	P;D	0.87578	0.861;0.998	D	0.91511	0.5227	9	.	.	.	.	13.9379	0.64036	0.0:0.0:0.4665:0.5335	.	106;80	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	80;80;80;106	ENSP00000300571:R80W;ENSP00000442858:R80W;ENSP00000441775:R106W	.	R	-	1	2	2	GPRC5B	19791431	19791431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.630000	0.46494	0.737000	0.32582	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.061086	1	0.170000				61	61		278	277	1		1	0		0	0	52	0		1	9.984842e-01	0	1	0	46	0	61	278
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552																																						ENST00000570682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A274S(1)	lung(1)	30						c.(820-822)Gcc>Tcc		G protein-coupled receptor 139							88.0	89.0	89.0					16																	20043299		2203	4300	6503	SO:0001583	missense	124274	0	0					g.chr16:20043299C>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.820G>T	chr16.hg19:g.20043299C>A	ENSP00000458791:p.Ala274Ser	0						p.A274S	NM_001002911.2	NP_001002911.1	1	2	3	2.056757	Q6DWJ6	GP139_HUMAN		2	1120	-			A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	1	1	hg19	c.820G>T	CCDS32398.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	0	GPR139	19950800	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	1	0	0		19	2	2	1		1	1	88		88	88	1	2.060000	-5.034672	1	0.170000	NM_001002911			124	120		401	389	1		1			1	0	88	0		1	0	0	0	0	0	0	124	401
GPR139	124274	broad.mit.edu	37	16	20043983	20043983	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	46					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATCACTGTCAAGATATTTGCT	0.473																																						ENST00000570682.1	1.000000	0.190000	1	3.100000e-01	0.480000	0.560341	0.480000	0.400000																										0				30						c.(136-138)Ttg>Ctg		G protein-coupled receptor 139							42.0	44.0	43.0					16																	20043983		2203	4300	6503	SO:0001819	synonymous_variant	124274	0	0					g.chr16:20043983A>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.136T>C	chr16.hg19:g.20043983A>G		0						p.L46L	NM_001002911.2	NP_001002911.1	1	2	3	2.056757	Q6DWJ6	GP139_HUMAN		2	436	-			A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	1	1	hg19	c.136T>C	CCDS32398.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-8.694698	1	0.170000	NM_001002911			6	6		167	166	0		1			0	0	45	0		9.651724e-01	0	0	0	0	0	0	6	167
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000302555.5_Missense_Mutation_p.V301A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)			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						GAAATCATTGACCAAGGAGAG	0.423																																						ENST00000381362.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(910-912)gTc>gCc		glycoprotein 2 (zymogen granule membrane)							449.0	418.0	429.0					16																	20331047		2203	4300	6503	SO:0001583	missense	2813	0	0					g.chr16:20331047A>G	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.911T>C	chr16.hg19:g.20331047A>G	ENSP00000370767:p.Val304Ala	0					GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	p.V304A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	1	2	3	2.056757	P55259	GP2_HUMAN		7	987	-			A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	1	1	hg19	c.911T>C	CCDS42128.1	1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	0	GP2	20238548	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	1	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-20.000000	1	0.170000	NM_016295			188	182		904	884	1		1	0		0	0	184	0		1	1	0	0	0	441	0	188	904
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	rs199541169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|GFER_ENST00000569451.1_3'UTR	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	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)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607																																						ENST00000248114.6	1.000000	0.910000	1	9.900000e-01	0.990000	0.995021	0.990000	1.000000																										0				5						c.(535-537)cGc>cAc		growth factor, augmenter of liver regeneration	Flavin adenine dinucleotide(DB03147)	G	HIS/ARG	0,4396		0,0,2198	94.0	90.0	91.0		536	1.1	1.0	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense	2671	15	121396	46				g.chr16:2035947G>A	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.536G>A	chr16.hg19:g.2035947G>A	ENSP00000248114:p.Arg179His	0					AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	p.R179H	NM_005262.2	NP_005253.3	1	2	3	2.056757	P55789	ALR_HUMAN		3	542	+			Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	1	1	hg19	c.536G>A	CCDS32368.1	1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	0	GFER	1975948	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-3.075755	1	0.170000	NM_005262			66	65		617	606	0		1	1		0	0	114	0		1	9.999576e-01	0	10	0	125	0	66	617
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	C	T	rs142220504	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR	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					ENST00000248114.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F186F(1)	large_intestine(1)	5						c.(556-558)ttC>ttT		growth factor, augmenter of liver regeneration	Flavin adenine dinucleotide(DB03147)						92.0	86.0	88.0					16																	2035969		2198	4300	6498	SO:0001819	synonymous_variant	2671	6	121392	43				g.chr16:2035969C>T	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	chr16.hg19:g.2035969C>T		0					AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Silent_p.F111F	p.F186F	NM_005262.2	NP_005253.3	1	2	3	2.056757	P55789	ALR_HUMAN		3	564	+			Q53YM6|Q8TAH6|Q9H290|Q9UK40	Silent	SNP	ENST00000248114.6	1	1	hg19	c.558C>T	CCDS32368.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_005262			115	114		521	513	0		1	1		0	0	101	0		1	1	0	43	0	108	0	115	521
UMOD	7369	broad.mit.edu	37	16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000570689.1	-	6	1458	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000396134.2_Missense_Mutation_p.A471T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T			P07911	UROM_HUMAN	uromodulin	438	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542																																						ENST00000570689.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1312-1314)Gcc>Acc		uromodulin							113.0	98.0	103.0					16																	20355365		2203	4300	6503	SO:0001583	missense	7369	2	121412	34				g.chr16:20355365C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1312G>A	chr16.hg19:g.20355365C>T	ENSP00000460548:p.Ala438Thr	0					UMOD_ENST00000396134.2_Missense_Mutation_p.A471T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T	p.A438T			1	2	3	2.056757	P07911	UROM_HUMAN		6	1458	-			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	1	1	hg19	c.1312G>A	CCDS10583.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343922	0.41498	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.49	1.89	0.25635	5.49	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.137477	0.34110	N	0.004243	T	0.76659	0.4018	L	0.52364	1.645	0.19775	N	0.999956	P;P	0.40282	0.543;0.711	B;P	0.45610	0.18;0.487	T	0.67647	-0.5617	10	0.59425	D	0.04	-31.8589	7.0744	0.25197	0.3886:0.4834:0.0:0.128	.	471;438	E9PEA4;P07911	.;UROM_HUMAN	T	438;471;471;438;416;438	ENSP00000379438:A471T;ENSP00000416346:A471T;ENSP00000306279:A438T;ENSP00000379446:A438T	ENSP00000306279:A438T	A	-	1	0	0	UMOD	20262866	20262866	0.358000	0.24947	0.989000	0.46669	0.740000	0.42216	0.371000	0.20450	0.339000	0.23719	-0.264000	0.10439	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				61	58		211	208	1		1			0	0	54	0		1	0	0	0	0	0	0	61	211
PDILT	204474	broad.mit.edu	37	16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	256					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)			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						ATCACAAAATCTGTAAGGTGC	0.443																																						ENST00000302451.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(766-768)Gat>Tat		protein disulfide isomerase-like, testis expressed							216.0	205.0	208.0					16																	20384360		2203	4300	6503	SO:0001583	missense	204474	0	0					g.chr16:20384360C>A		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.766G>T	chr16.hg19:g.20384360C>A	ENSP00000305465:p.Asp256Tyr	0						p.D256Y	NM_174924.1	NP_777584.1	1	2	3	2.056757	Q8N807	PDILT_HUMAN		6	1014	-			Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	1	1	hg19	c.766G>T	CCDS10584.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728574	0.48833	.	.	ENSG00000169340	ENST00000302451	T	0.30182	1.54	4.91	3.93	0.45458	4.91	3.93	0.45458	Thioredoxin-like fold (3);	0.196686	0.52532	D	0.000075	T	0.46870	0.1415	L	0.59436	1.845	0.09310	N	0.999991	D	0.76494	0.999	D	0.65323	0.934	T	0.32214	-0.9915	10	0.72032	D	0.01	.	10.8628	0.46835	0.0:0.8095:0.1905:0.0	.	256	Q8N807	PDILT_HUMAN	Y	256	ENSP00000305465:D256Y	ENSP00000305465:D256Y	D	-	1	0	0	PDILT	20291861	20291861	0.040000	0.19996	0.186000	0.23195	0.862000	0.49288	1.154000	0.31688	1.223000	0.43536	0.563000	0.77884	GAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_174924			135	126		582	574	1		1			0	0	145	0		1	0	0	0	0	0	0	135	582
SYNGR3	9143	broad.mit.edu	37	16	2042719	2042719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000248121.2	+	3	578	c.420G>A	c.(418-420)acG>acA	p.T140T	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R52H	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721																																						ENST00000248121.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				3						c.(418-420)acG>acA		synaptogyrin 3							14.0	15.0	15.0					16																	2042719		2175	4262	6437	SO:0001819	synonymous_variant	9143	0	0					g.chr16:2042719G>A	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.420G>A	chr16.hg19:g.2042719G>A		0					SYNGR3_ENST00000562045.1_Missense_Mutation_p.R52H	p.T140T	NM_004209.5	NP_004200.2	1	2	3	2.056757	O43761	SNG3_HUMAN		3	578	+			B2R9S0	Silent	SNP	ENST00000248121.2	1	1	hg19	c.420G>A	CCDS10456.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1	0	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000				24	24		106	102	0		1	1		0	0	15	0		9.999998e-01	2.429306e-01	0	3	0	2	0	24	106
SYNGR3	9143	broad.mit.edu	37	16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	198					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692																																						ENST00000248121.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				3						c.(592-594)gTg>gCg		synaptogyrin 3							23.0	22.0	22.0					16																	2042976		2193	4294	6487	SO:0001583	missense	9143	0	0					g.chr16:2042976T>C	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.593T>C	chr16.hg19:g.2042976T>C	ENSP00000248121:p.Val198Ala	0					SYNGR3_ENST00000562045.1_3'UTR	p.V198A	NM_004209.5	NP_004200.2	1	2	3	2.056757	O43761	SNG3_HUMAN		4	751	+			B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	1	1	hg19	c.593T>C	CCDS10456.1	1	.	.	.	.	.	.	.	.	.	.	t	2.597	-0.293785	0.05568	.	.	ENSG00000127561	ENST00000248121	T	0.12984	2.63	3.63	2.48	0.30137	3.63	2.48	0.30137	.	0.367084	0.27442	N	0.019357	T	0.05502	0.0145	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.16896	T	0.51	.	3.3863	0.07273	0.0:0.3591:0.0:0.6409	.	198	O43761	SNG3_HUMAN	A	198	ENSP00000248121:V198A	ENSP00000248121:V198A	V	+	2	0	0	SYNGR3	1982977	1982977	0.982000	0.34865	0.994000	0.49952	0.865000	0.49528	2.578000	0.46051	1.512000	0.48834	0.379000	0.24179	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1	1	0	1		2	2	2	0		0	0	26		26	23	1	2.060000	-20.000000	1	0.170000				28	26		138	131	0		1	1		0	0	26	0		1	8.687825e-01	0	7	0	13	0	28	138
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	32					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577																																						ENST00000331849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(94-96)cCt>cAt		acyl-CoA synthetase medium-chain family member 5							90.0	75.0	80.0					16																	20422901		2203	4300	6503	SO:0001583	missense	54988	0	0					g.chr16:20422901C>A		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.95C>A	chr16.hg19:g.20422901C>A	ENSP00000327916:p.Pro32His	0					ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	p.P32H	NM_017888.2	NP_060358.2	1	2	3	2.056757	Q6NUN0	ACSM5_HUMAN		2	242	+			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	1	1	hg19	c.95C>A	CCDS10585.1	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879921	0.33162	.	.	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.69	3.74	0.42951	4.69	3.74	0.42951	.	1.094530	0.07036	N	0.829339	T	0.44222	0.1283	L	0.46157	1.445	0.21355	N	0.999718	B	0.28933	0.228	B	0.29176	0.099	T	0.34527	-0.9825	10	0.34782	T	0.22	-6.7651	10.9456	0.47299	0.0:0.9118:0.0:0.0882	.	32	Q6NUN0	ACSM5_HUMAN	H	32	ENSP00000327916:P32H	ENSP00000327916:P32H	P	+	2	0	0	ACSM5	20330402	20330402	0.007000	0.16637	0.277000	0.24703	0.061000	0.15899	1.969000	0.40510	1.187000	0.43000	-0.140000	0.14226	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.278594	1	0.170000	NM_017888			51	48		205	203	1		1	0		0	0	48	0		1	5.649622e-01	0	0	0	9	0	51	205
ACSM5	54988	broad.mit.edu	37	16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	173					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACTCCCTAGCTCCAAGGGTG	0.582																																						ENST00000331849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(517-519)gCt>gTt		acyl-CoA synthetase medium-chain family member 5							88.0	73.0	78.0					16																	20430652		2203	4300	6503	SO:0001583	missense	54988	0	0					g.chr16:20430652C>T		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.518C>T	chr16.hg19:g.20430652C>T	ENSP00000327916:p.Ala173Val	0					ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	p.A173V	NM_017888.2	NP_060358.2	1	2	3	2.056757	Q6NUN0	ACSM5_HUMAN		4	665	+			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	1	1	hg19	c.518C>T	CCDS10585.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946946	0.53186	.	.	ENSG00000183549	ENST00000331849	T	0.50001	0.76	4.65	3.7	0.42460	4.65	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.44329	0.1288	L	0.39147	1.195	0.40815	D	0.983451	P	0.45396	0.857	P	0.48400	0.576	T	0.37820	-0.9689	10	0.42905	T	0.14	-11.2626	9.1503	0.36959	0.0:0.8309:0.0:0.1691	.	173	Q6NUN0	ACSM5_HUMAN	V	173	ENSP00000327916:A173V	ENSP00000327916:A173V	A	+	2	0	0	ACSM5	20338153	20338153	0.994000	0.37717	0.897000	0.35233	0.471000	0.32888	3.242000	0.51384	1.303000	0.44873	0.650000	0.86243	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_017888			63	63		227	221	1		1	0		0	0	65	0		1	3.894710e-01	0	0	0	6	0	63	227
ACSM5	54988	broad.mit.edu	37	16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	rs113178652	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552																																						ENST00000331849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1183-1185)gCg>gTg		acyl-CoA synthetase medium-chain family member 5							196.0	180.0	186.0					16																	20442373		2203	4300	6503	SO:0001583	missense	54988	10	121412	40				g.chr16:20442373C>T		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.1184C>T	chr16.hg19:g.20442373C>T	ENSP00000327916:p.Ala395Val	0						p.A395V	NM_017888.2	NP_060358.2	1	2	3	2.056757	Q6NUN0	ACSM5_HUMAN		9	1331	+			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	1	1	hg19	c.1184C>T	CCDS10585.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582553	0.65992	.	.	ENSG00000183549	ENST00000331849	T	0.40756	1.02	4.37	4.37	0.52481	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000069	T	0.57814	0.2079	L	0.59436	1.845	0.42229	D	0.991882	D	0.89917	1.0	P	0.61397	0.888	T	0.63915	-0.6529	10	0.72032	D	0.01	-15.9681	16.0686	0.80907	0.0:1.0:0.0:0.0	.	395	Q6NUN0	ACSM5_HUMAN	V	395	ENSP00000327916:A395V	ENSP00000327916:A395V	A	+	2	0	0	ACSM5	20349874	20349874	0.921000	0.31238	0.901000	0.35422	0.230000	0.25150	3.621000	0.54210	2.119000	0.64992	0.650000	0.86243	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1		2	2	2	0		0	0	202		202	202	1	2.060000	-20.000000	1	0.170000	NM_017888			181	152		932	911	1		1	0		0	0	202	0		1	1.271111e-01	0	0	0	4	0	181	932
ACSM5	54988	broad.mit.edu	37	16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	rs141553052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	458					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21785	0.0		0.001	False		,,,				2504	0.0					ENST00000331849.4	1.000000	0.810000	1	9.300000e-01	0.990000	0.975859	0.990000	1.000000																										0				51						c.(1372-1374)cGc>cAc		acyl-CoA synthetase medium-chain family member 5		G	HIS/ARG	0,4406		0,0,2203	181.0	166.0	171.0		1373	-10.3	0.0	16	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	458/580	20448438	1,13005	2203	4300	6503	SO:0001583	missense	54988	9	121412	41				g.chr16:20448438G>A		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.1373G>A	chr16.hg19:g.20448438G>A	ENSP00000327916:p.Arg458His	0						p.R458H	NM_017888.2	NP_060358.2	1	2	3	2.056757	Q6NUN0	ACSM5_HUMAN		11	1520	+			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	1	1	hg19	c.1373G>A	CCDS10585.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	8.711	0.911994	0.17907	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.50548	0.74	5.15	-10.3	0.00346	5.15	-10.3	0.00346	AMP-dependent synthetase/ligase (1);	1.371240	0.04612	N	0.400456	T	0.24005	0.0581	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06789	-1.0807	10	0.22706	T	0.39	-0.8747	3.6884	0.08336	0.19:0.0888:0.4284:0.2928	.	458	Q6NUN0	ACSM5_HUMAN	H	458	ENSP00000327916:R458H	ENSP00000327916:R458H	R	+	2	0	0	ACSM5	20355939	20355939	0.000000	0.05858	0.006000	0.13384	0.835000	0.47333	-0.596000	0.05720	-2.007000	0.00956	-0.781000	0.03364	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	0		18	2	2	1		1	1	128		128	129	1	2.060000	-15.217400	1	0.170000	NM_017888			61	61		642	626	0		1	0		1	0	128	0		9.999998e-01	1.211398e-01	0	0	0	7	0	61	642
ZNF598	90850	broad.mit.edu	37	16	2048484	2048485	+	Missense_Mutation	DNP	CC	CC	TT	rs557029560		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484_2048485CC>TT	ENST00000563630.1	-	12	2540_2541	c.2298_2299GG>AA	c.(2296-2301)acGGcc>acAAcc	p.A767T	ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T|ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	822							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGCA	0.584																																						ENST00000563630.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2299-2301)Gcc>Acc|c.(2296-2298)acG>acA		zinc finger protein 598																																				SO:0001583	missense	90850	0|16	0|120728	|40				g.chr16:2048484C>T|g.chr16:2048485C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2298_2299delinsTT	chr16.hg19:g.2048484_2048485delinsTT	ENSP00000455882:p.Ala767Thr	0					ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T|ZNF598_ENST00000562103.1_Silent_p.T766T|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.T821T	p.A767T|p.T766T			1	2	3	2.056757	Q86UK7	ZN598_HUMAN		12	2541|2540	-			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation|Silent	SNP	ENST00000563630.1	1	1	hg19	c.2299G>A|c.2298G>A		1																									4.77|	2.83|	0.33086|																																												0|			1988485|														1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.584	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-4.038574|-20.000000	1	0.170000	NM_178167			67|65	67|64		230	227|228	0		1	1		0	0	58	0		1	1	0	23|29	0	69|70	0	65	230
ZNF598	90850	broad.mit.edu	37	16	2049591	2049591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF598_ENST00000431526.1_Silent_p.L653L|ZNF598_ENST00000562103.1_Silent_p.L598L|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	653	Pro-rich.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731																																						ENST00000563630.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1792-1794)ctC>ctT		zinc finger protein 598							11.0	14.0	13.0					16																	2049591		1715	3872	5587	SO:0001819	synonymous_variant	90850	0	0					g.chr16:2049591G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1794C>T	chr16.hg19:g.2049591G>A		0					ZNF598_ENST00000562103.1_Silent_p.L598L|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.L653L	p.L598L			1	2	3	2.056757	Q86UK7	ZN598_HUMAN		9	2036	-			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	1	1	hg19	c.1794C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_178167			30	30		129	127	0		1	1		0	0	38	0		1	9.990345e-01	0	13	0	37	0	30	129
ACSM2A	123876	broad.mit.edu	37	16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612																																						ENST00000573854.1	1.000000	0.570000	1	7.100000e-01	0.880000	0.868292	0.880000	1.000000																										0				51						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2A							126.0	112.0	117.0					16																	20476939		2203	4300	6503	SO:0001583	missense	123876	0	0					g.chr16:20476939C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.278C>T	chr16.hg19:g.20476939C>T	ENSP00000459451:p.Ala93Val	0					ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V	p.A93V	NM_001010845.2	NP_001010845	1	2	3	2.056757	Q08AH3	ACS2A_HUMAN		3	392	+			B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	1	1	hg19	c.278C>T	CCDS32401.1	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860063	0.32884	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.76	1.74	0.24563	3.76	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.15089	0.0364	N	0.17312	0.475	0.23174	N	0.998176	B;B	0.34290	0.174;0.447	B;B	0.26202	0.046;0.067	T	0.20505	-1.0273	10	0.02654	T	1	-0.3522	7.392	0.26915	0.0:0.6887:0.0:0.3113	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	14;93;93;93	ENSP00000392169:A14V;ENSP00000219054:A93V;ENSP00000394904:A93V;ENSP00000379411:A93V	ENSP00000219054:A93V	A	+	2	0	0	ACSM2A	20384440	20384440	0.010000	0.17322	0.051000	0.19133	0.453000	0.32348	0.333000	0.19768	0.200000	0.20447	0.298000	0.19748	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	0	0	1		2	2	2	0		0	0	79		79	90	1	2.060000	-7.606588	1	0.170000	NM_001010845			26	25		345	334	0		1			0	0	79	0		9.999999e-01	0	0	0	0	0	0	26	345
ACSM2B	348158	broad.mit.edu	37	16	20559396	20559396	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000565232.1_Silent_p.G362G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	362					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507																																						ENST00000329697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1084-1086)ggC>ggA		acyl-CoA synthetase medium-chain family member 2B							159.0	162.0	161.0					16																	20559396		2201	4300	6501	SO:0001819	synonymous_variant	348158	0	0					g.chr16:20559396G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1086C>A	chr16.hg19:g.20559396G>T		0					ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G	p.G362G	NM_001105069.1	NP_001098539.1	1	2	3	2.056757	Q68CK6	ACS2B_HUMAN		8	1254	-			Q86YT1	Silent	SNP	ENST00000329697.6	1	1	hg19	c.1086C>A	CCDS10586.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	1	0	1		2	2	2	0		0	0	267		267	268	1	2.060000	-20.000000	1	0.170000	NM_182617			188	183		1036	1008	1		1			0	0	267	0		1	0	0	0	0	0	0	188	1036
ACSM2B	348158	broad.mit.edu	37	16	20570669	20570669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	ENST00000329697.6	-	3	446	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATGTTGGCTGCCTGCTGGCT	0.602																																						ENST00000329697.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				57						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2B							25.0	21.0	22.0					16																	20570669		2201	4284	6485	SO:0001583	missense	348158	0	0					g.chr16:20570669G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.278C>T	chr16.hg19:g.20570669G>A	ENSP00000327453:p.Ala93Val	0					ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V	p.A93V	NM_001105069.1	NP_001098539.1	1	2	3	2.056757	Q68CK6	ACS2B_HUMAN		3	446	-			Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	0	1	hg19	c.278C>T	CCDS10586.1	1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022450	0.08006	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.37411	1.2;1.2	3.51	2.55	0.30701	3.51	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.16342	0.0393	N	0.17082	0.46	0.22639	N	0.998907	B;B	0.34290	0.447;0.447	B;B	0.26202	0.067;0.067	T	0.13150	-1.0520	10	0.02654	T	1	-0.3522	9.68	0.40065	0.1073:0.0:0.8927:0.0	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	V	93	ENSP00000327453:A93V;ENSP00000390378:A93V	ENSP00000327453:A93V	A	-	2	0	0	ACSM2B	20478170	20478170	0.000000	0.05858	0.040000	0.18447	0.013000	0.08279	0.468000	0.22051	0.685000	0.31468	-0.192000	0.12808	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	0	0	1		2	2	2	0		0	0	17		17	24	1	2.060000	-20.000000	1	0.170000	NM_182617			25	21		94	78	0		1			0	0	17	0		9.999994e-01	0	0	0	0	0	0	25	94
ACSM1	116285	broad.mit.edu	37	16	20681260	20681260	+	Silent	SNP	C	C	T	rs577881935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	267					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.S267S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20004	0.001		0.0	False		,,,				2504	0.0					ENST00000307493.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S267S(1)	lung(1)	42						c.(799-801)tcG>tcA		acyl-CoA synthetase medium-chain family member 1							141.0	120.0	127.0					16																	20681260		2201	4300	6501	SO:0001819	synonymous_variant	116285	4	121410	35				g.chr16:20681260C>T	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.801G>A	chr16.hg19:g.20681260C>T		0					ACSM1_ENST00000520010.1_Silent_p.S267S|ACSM1_ENST00000219151.4_5'UTR	p.S267S	NM_052956.2	NP_443188.2	1	2	3	2.056757	Q08AH1	ACSM1_HUMAN		5	868	-			Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	1	1	hg19	c.801G>A	CCDS10587.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	1	0	0		2	2	2	0		0	0	42		42	41	1	2.060000	-3.263077	1	0.170000	NM_052956			50	49		225	219	0		1	1		0	0	42	0		1	7.142231e-01	0	3	0	10	0	50	225
ACSM1	116285	broad.mit.edu	37	16	20681265	20681265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000307493.4	-	5	863	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ACSM1_ENST00000219151.4_De_novo_Start_InFrame|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	266					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)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGTCCGACAGGCACCAGGAG	0.507																																						ENST00000307493.4	1.000000	0.210000	1	3.100000e-01	0.460000	0.542088	0.460000	0.400000																										0				42						c.(796-798)Ctg>Atg		acyl-CoA synthetase medium-chain family member 1							139.0	120.0	127.0					16																	20681265		2201	4300	6501	SO:0001583	missense	116285	0	0					g.chr16:20681265G>T	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.796C>A	chr16.hg19:g.20681265G>T	ENSP00000301956:p.Leu266Met	0					ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M|ACSM1_ENST00000219151.4_De_novo_Start_InFrame	p.L266M	NM_052956.2	NP_443188.2	1	2	3	2.056757	Q08AH1	ACSM1_HUMAN		5	863	-			Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	0	1	hg19	c.796C>A	CCDS10587.1	0	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252155	0.22880	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.44083	0.93;0.93	5.05	-9.56	0.00566	5.05	-9.56	0.00566	AMP-dependent synthetase/ligase (1);	1.387560	0.05286	N	0.520143	T	0.21550	0.0519	N	0.25789	0.76	0.25753	N	0.985031	B	0.21606	0.058	B	0.21917	0.037	T	0.12400	-1.0549	10	0.23302	T	0.38	.	4.6505	0.12592	0.0689:0.3267:0.2181:0.3862	.	266	Q08AH1	ACSM1_HUMAN	M	266	ENSP00000301956:L266M;ENSP00000428047:L266M	ENSP00000301956:L266M	L	-	1	2	2	ACSM1	20588766	20588766	0.000000	0.05858	0.023000	0.16930	0.376000	0.30014	-2.590000	0.00899	-1.145000	0.02858	0.514000	0.50259	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	0	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-10.453610	1	0.170000	NM_052956			9	9		254	248	0		1	0		0	0	41	0		9.938235e-01	5.536506e-02	0	0	0	10	0	9	254
ACSM3	6296	broad.mit.edu	37	16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448																																						ENST00000289416.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(385-387)Agg>Ggg		acyl-CoA synthetase medium-chain family member 3							86.0	88.0	87.0					16																	20787326		2201	4300	6501	SO:0001583	missense	6296	0	0					g.chr16:20787326A>G	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.385A>G	chr16.hg19:g.20787326A>G	ENSP00000289416:p.Arg129Gly	0					ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	p.R129G	NM_005622.3	NP_005613.2	1	2	3	2.056757	Q53FZ2	ACSM3_HUMAN		3	860	+			O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	1	1	hg19	c.385A>G	CCDS10589.1	1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895802	0.72639	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52526	0.66;0.66;0.66	5.81	2.05	0.26809	5.81	2.05	0.26809	AMP-dependent synthetase/ligase (1);	0.303746	0.33732	N	0.004619	T	0.65101	0.2659	M	0.89353	3.025	0.34674	D	0.724058	P;D;D	0.63880	0.675;0.99;0.993	P;P;P	0.60117	0.672;0.869;0.864	T	0.75519	-0.3289	10	0.72032	D	0.01	-10.5388	8.1248	0.30992	0.3688:0.5437:0.0876:0.0	.	84;129;129	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	G	129;129;84	ENSP00000289416:R129G;ENSP00000394565:R129G;ENSP00000395297:R84G	ENSP00000289416:R129G	R	+	1	2	2	ACSM3	20694827	20694827	0.843000	0.29541	1.000000	0.80357	0.869000	0.49853	0.962000	0.29280	1.004000	0.39156	0.383000	0.25322	AGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_005622			84	84		326	315	1		1	1		0	0	90	0		1	9.849805e-01	0	12	0	16	0	84	326
SLC9A3R2	9351	broad.mit.edu	37	16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	322					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999389	0.990000	1.000000																										0				2						c.(964-966)gCg>gTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							43.0	53.0	50.0					16																	2087936		2116	4212	6328	SO:0001583	missense	9351	0	0					g.chr16:2087936C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.965C>T	chr16.hg19:g.2087936C>T	ENSP00000408005:p.Ala322Val	0					SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V	p.A322V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	1	2	3	2.056757	Q15599	NHRF2_HUMAN		7	1103	+			D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	1	1	hg19	c.965C>T	CCDS45382.1	1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.55760	0.5;1.09	5.09	5.09	0.68999	5.09	5.09	0.68999	EBP50, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.949;0.994	T	0.71968	-0.4432	10	0.59425	D	0.04	-11.734	17.4642	0.87628	0.0:1.0:0.0:0.0	.	357;311;322	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	322;311	ENSP00000408005:A322V;ENSP00000402857:A311V	ENSP00000408005:A322V	A	+	2	0	0	SLC9A3R2	2027937	2027937	1.000000	0.71417	0.939000	0.37840	0.365000	0.29674	7.125000	0.77193	2.377000	0.81083	0.491000	0.48974	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				17	17		94	92	1		1	1		0	0	32	0		9.999751e-01	1	0	53	0	262	0	17	94
DCUN1D3	123879	broad.mit.edu	37	16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	284					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567																																						ENST00000324344.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.991804	0.990000	1.000000																										0				14						c.(850-852)Gaa>Aaa		DCN1, defective in cullin neddylation 1, domain containing 3							72.0	64.0	67.0					16																	20871273		2201	4300	6501	SO:0001583	missense	123879	0	0					g.chr16:20871273C>T	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.850G>A	chr16.hg19:g.20871273C>T	ENSP00000319482:p.Glu284Lys	0					ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K	p.E284K	NM_173475.2	NP_775746.1	1	2	3	2.056757	Q8IWE4	DCNL3_HUMAN		3	1135	-			B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	1	1	hg19	c.850G>A	CCDS10592.1	1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153360	0.57259	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.134496	0.64402	D	0.000003	T	0.51736	0.1692	L	0.34521	1.04	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.51196	-0.8736	9	0.06494	T	0.89	-27.7325	20.6634	0.99662	0.0:1.0:0.0:0.0	.	284	Q8IWE4	DCNL3_HUMAN	K	284	.	ENSP00000319482:E284K	E	-	1	0	0	DCUN1D3	20778774	20778774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.894000	0.99253	0.655000	0.94253	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	0	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_173475			23	23		191	183	1		1	1		0	0	33	0		9.999993e-01	9.172500e-01	0	9	0	29	0	23	191
DNAH3	55567	broad.mit.edu	37	16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T	rs187501827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3745					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)			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)		CAGCAGGAGACGCCGGTCTTT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18798	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(11233-11235)cGt>cAt		dynein, axonemal, heavy chain 3							103.0	91.0	95.0					16																	20959914		2201	4300	6501	SO:0001583	missense	55567	1	121412	33				g.chr16:20959914C>T	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.11234G>A	chr16.hg19:g.20959914C>T	ENSP00000261383:p.Arg3745His	0					DNAH3_ENST00000415178.1_3'UTR	p.R3745H	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		57	11233	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.11234G>A	CCDS10594.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.103288	0.94245	.	.	ENSG00000158486	ENST00000261383	T	0.12984	2.63	5.9	4.94	0.65067	5.9	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	10	0.72032	D	0.01	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	3745	Q8TD57	DYH3_HUMAN	H	3745	ENSP00000261383:R3745H	ENSP00000261383:R3745H	R	-	2	0	0	DNAH3	20867415	20867415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.482000	0.48325	0.650000	0.86243	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_017539			39	39		146	146	1		1			0	0	43	0		1	0	0	0	0	0	0	39	146
DNAH3	55567	broad.mit.edu	37	16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3664	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)|microtubule motor activity (GO:0003777)			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)		CCACATCACCGCCTTTGCACA	0.527																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(10990-10992)gCg>gTg		dynein, axonemal, heavy chain 3							130.0	125.0	127.0					16																	20966215		2201	4300	6501	SO:0001583	missense	55567	5	121412	40				g.chr16:20966215G>A	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.10991C>T	chr16.hg19:g.20966215G>A	ENSP00000261383:p.Ala3664Val	0					DNAH3_ENST00000415178.1_3'UTR	p.A3664V	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		55	10990	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.10991C>T	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828909	0.16749	.	.	ENSG00000158486	ENST00000261383	T	0.08720	3.06	5.43	2.3	0.28687	5.43	2.3	0.28687	Dynein heavy chain (1);	0.362903	0.27236	N	0.020283	T	0.02848	0.0085	N	0.02192	-0.645	0.09310	N	1	B	0.30439	0.279	B	0.27887	0.084	T	0.43925	-0.9361	10	0.30078	T	0.28	.	6.8303	0.23907	0.0693:0.1285:0.6688:0.1335	.	3664	Q8TD57	DYH3_HUMAN	V	3664	ENSP00000261383:A3664V	ENSP00000261383:A3664V	A	-	2	0	0	DNAH3	20873716	20873716	0.008000	0.16893	0.010000	0.14722	0.242000	0.25591	1.261000	0.32980	0.229000	0.21039	0.655000	0.94253	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_017539			160	160		573	559	1		1	0		0	0	137	0		1	0	0	1	0	0	0	160	573
DNAH3	55567	broad.mit.edu	37	16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3453					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)			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)		TGGGGCCAGGCCGAGTCATAG	0.527																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(10357-10359)Gcc>Tcc		dynein, axonemal, heavy chain 3							95.0	77.0	83.0					16																	20974849		2201	4300	6501	SO:0001583	missense	55567	0	0					g.chr16:20974849C>A	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.10357G>T	chr16.hg19:g.20974849C>A	ENSP00000261383:p.Ala3453Ser	0					DNAH3_ENST00000415178.1_3'UTR	p.A3453S	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		53	10356	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.10357G>T	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031049	0.02029	.	.	ENSG00000158486	ENST00000261383	T	0.08102	3.13	5.39	2.25	0.28309	5.39	2.25	0.28309	Dynein heavy chain (1);	0.299368	0.30575	N	0.009337	T	0.02970	0.0088	N	0.04297	-0.235	0.21020	N	0.99981	B	0.11235	0.004	B	0.20384	0.029	T	0.46762	-0.9168	10	0.09338	T	0.73	.	5.3477	0.16018	0.2812:0.5656:0.0:0.1533	.	3453	Q8TD57	DYH3_HUMAN	S	3453	ENSP00000261383:A3453S	ENSP00000261383:A3453S	A	-	1	0	0	DNAH3	20882350	20882350	0.987000	0.35691	0.761000	0.31378	0.782000	0.44232	2.256000	0.43231	0.210000	0.20664	0.563000	0.77884	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_017539			65	63		215	212	1		1			0	0	64	0		1	0	0	0	0	0	0	65	215
DNAH3	55567	broad.mit.edu	37	16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3351					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)			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)		GGTGAAATGGTCAATGATGTA	0.473																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(10051-10053)gAc>gGc		dynein, axonemal, heavy chain 3							174.0	133.0	147.0					16																	20975154		2201	4300	6501	SO:0001583	missense	55567	2	121412	39				g.chr16:20975154T>C	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.10052A>G	chr16.hg19:g.20975154T>C	ENSP00000261383:p.Asp3351Gly	0					DNAH3_ENST00000415178.1_3'UTR	p.D3351G	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		53	10051	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.10052A>G	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	T	7.842	0.722045	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.61980	0.06	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.343223	0.30401	N	0.009716	T	0.66396	0.2785	M	0.87328	2.875	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.67741	-0.5592	10	0.72032	D	0.01	.	10.4542	0.44539	0.0:0.0724:0.0:0.9276	.	3351	Q8TD57	DYH3_HUMAN	G	3351	ENSP00000261383:D3351G	ENSP00000261383:D3351G	D	-	2	0	0	DNAH3	20882655	20882655	0.878000	0.30173	0.693000	0.30195	0.054000	0.15201	2.893000	0.48633	2.207000	0.71202	0.460000	0.39030	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_017539			114	114		482	471	1		1			0	0	97	0		1	0	0	0	0	0	0	114	482
DNAH3	55567	broad.mit.edu	37	16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3188	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)			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)		GGAGACAGACCTTCACGGCAA	0.473																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(9562-9564)aaG>aaT		dynein, axonemal, heavy chain 3							88.0	86.0	86.0					16																	20975642		2201	4300	6501	SO:0001583	missense	55567	0	0					g.chr16:20975642C>A	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.9564G>T	chr16.hg19:g.20975642C>A	ENSP00000261383:p.Lys3188Asn	0					DNAH3_ENST00000415178.1_3'UTR	p.K3188N	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		53	9563	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.9564G>T	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858220	0.51376	.	.	ENSG00000158486	ENST00000261383	T	0.22743	1.94	6.03	-0.0983	0.13629	6.03	-0.0983	0.13629	.	0.112712	0.64402	D	0.000012	T	0.55386	0.1917	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64605	-0.6368	10	0.87932	D	0	.	10.7353	0.46122	0.0:0.3047:0.0:0.6953	.	3188	Q8TD57	DYH3_HUMAN	N	3188	ENSP00000261383:K3188N	ENSP00000261383:K3188N	K	-	3	2	2	DNAH3	20883143	20883143	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.073000	0.30691	-0.046000	0.13446	-0.294000	0.09567	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-5.097442	1	0.170000	NM_017539			123	122		388	380	1		1	0		0	0	94	0		1	5.878293e-02	0	0	0	2	0	123	388
DNAH3	55567	broad.mit.edu	37	16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2960	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)|microtubule motor activity (GO:0003777)			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)		GCTTTTGGGAGCAGATTTCAA	0.517																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(8878-8880)tgC>tgA		dynein, axonemal, heavy chain 3							153.0	146.0	148.0					16																	20976326		2201	4300	6501	SO:0001587	stop_gained	55567	0	0					g.chr16:20976326G>T	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.8880C>A	chr16.hg19:g.20976326G>T	ENSP00000261383:p.Cys2960*	0					DNAH3_ENST00000415178.1_3'UTR	p.C2960*	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		53	8879	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	0	1	hg19	c.8880C>A	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.098613	0.99636	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.93	-0.998	0.10212	5.93	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9877	0.47530	0.4789:0.0:0.5211:0.0	.	.	.	.	X	2960	.	ENSP00000261383:C2960X	C	-	3	2	2	DNAH3	20883827	20883827	0.989000	0.36119	0.892000	0.35008	0.016000	0.09150	0.209000	0.17435	-0.384000	0.07845	-0.136000	0.14681	TGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	1		20	2	2	1		1	1	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_017539			170	167		695	683	1		1			1	0	146	0		1	0	0	0	0	0	0	170	695
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1. {ECO:0000250}.			YGMR -> FGLH (in Ref. 5; CAB06059). {ECO:0000305}.	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)			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)		CTTGACAGCGCGCATACCGTA	0.522																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(4810-4812)cGc>cAc		dynein, axonemal, heavy chain 3							124.0	97.0	106.0					16																	21049222		2201	4300	6501	SO:0001583	missense	55567	0	0					g.chr16:21049222C>T	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.4811G>A	chr16.hg19:g.21049222C>T	ENSP00000261383:p.Arg1604His	0					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	p.R1604H	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		34	4810	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.4811G>A	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.393775	0.96009	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93649	0.6971	10	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	1604	Q8TD57	DYH3_HUMAN	H	1604	ENSP00000261383:R1604H;ENSP00000394245:R1604H	ENSP00000261383:R1604H	R	-	2	0	0	DNAH3	20956723	20956723	1.000000	0.71417	0.986000	0.45419	0.814000	0.46013	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.737306	1	0.170000	NM_017539			45	45		167	165	1		1	1		0	0	35	0		1	4.622156e-01	0	2	0	5	0	45	167
TSC2	7249	broad.mit.edu	37	16	2112582	2112582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000568454.1_Silent_p.L459L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000350773.4_Silent_p.L448L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	448					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998856	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(1342-1344)Ctg>Ttg		tuberous sclerosis 2							45.0	44.0	44.0					16																	2112582		2198	4300	6498	SO:0001819	synonymous_variant	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2112582C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1342C>T	chr16.hg19:g.2112582C>T		0					TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000568454.1_Silent_p.L459L	p.L448L	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		13	1972	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	0	1	hg19	c.1342C>T	CCDS10458.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.994540	1	0.170000	NM_000548			12	12		59	59	1		1	1		0	0	15	0		9.993999e-01	9.986261e-01	0	11	0	51	0	12	59
DNAH3	55567	broad.mit.edu	37	16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	912	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)			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)		CTTGATCAGTTTATACGTTGT	0.463																																						ENST00000261383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				202						c.(2734-2736)aAa>aCa		dynein, axonemal, heavy chain 3							245.0	220.0	229.0					16																	21098312		2201	4300	6501	SO:0001583	missense	55567	0	0					g.chr16:21098312T>G	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.2735A>C	chr16.hg19:g.21098312T>G	ENSP00000261383:p.Lys912Thr	0					DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	p.K912T	NM_017539.1	NP_060009.1	1	2	3	2.056757	Q8TD57	DYH3_HUMAN		19	2734	-			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	1	1	hg19	c.2735A>C	CCDS10594.1	1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255099	0.59321	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63417	-0.04;-0.04	5.58	5.58	0.84498	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84403	0.0561	10	0.66056	D	0.02	.	15.7487	0.77967	0.0:0.0:0.0:1.0	.	912	Q8TD57	DYH3_HUMAN	T	912	ENSP00000261383:K912T;ENSP00000394245:K912T	ENSP00000261383:K912T	K	-	2	0	0	DNAH3	21005813	21005813	1.000000	0.71417	0.582000	0.28627	0.133000	0.20885	7.576000	0.82467	2.126000	0.65437	0.533000	0.62120	AAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_017539			161	160		690	680	1		1			0	0	144	0		1	0	0	0	0	0	0	161	690
TSC2	7249	broad.mit.edu	37	16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T	rs397515296|rs137854119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T. {ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56	GRCh37	CM090848	TSC2	M		c.(1819-1821)gCg>gTg		tuberous sclerosis 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	68.0	51.0	57.0		1820,1820,1820	5.5	1.0	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	64,64,64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	607/1808,607/1741,607/1785	2120560	1,12995	2198	4300	6498	SO:0001583	missense	7249	6	121380	39	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2120560C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1820C>T	chr16.hg19:g.2120560C>T	ENSP00000219476:p.Ala607Val	0					TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V	p.A607V	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		17	2450	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	1	1	hg19	c.1820C>T	CCDS10458.1	1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770716	0.69992	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.51	5.51	0.81932	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.89022	0.6597	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.936;0.981;0.98;0.999;0.995	D	0.86560	0.1840	10	0.27785	T	0.31	-33.4261	19.4153	0.94694	0.0:1.0:0.0:0.0	.	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	607;607;607;570;558;607	ENSP00000219476:A607V;ENSP00000384468:A607V;ENSP00000248099:A607V;ENSP00000399232:A570V;ENSP00000371978:A558V;ENSP00000344383:A607V	ENSP00000219476:A607V	A	+	2	0	0	TSC2	2060561	2060561	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.946000	0.70234	2.595000	0.87683	0.561000	0.74099	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_000548			70	70		286	284	1		1	1		0	0	59	0		1	9.999854e-01	0	15	0	54	0	70	286
TSC2	7249	broad.mit.edu	37	16	2124212	2124212	+	Silent	SNP	C	C	A	rs137854061|rs397515224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000350773.4_Silent_p.V789V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	789					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(2365-2367)gtC>gtA		tuberous sclerosis 2							71.0	57.0	62.0					16																	2124212		2198	4300	6498	SO:0001819	synonymous_variant	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2124212C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2367C>A	chr16.hg19:g.2124212C>A		0					TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000568454.1_Silent_p.V800V	p.V789V	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		22	2997	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	1	1	hg19	c.2367C>A	CCDS10458.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_000548			41	40		197	195	1		1	1		0	0	42	0		1	9.993073e-01	0	13	0	43	0	41	197
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000233047.4	+	3	712	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458																																						ENST00000233047.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(244-246)Ctg>Atg		transmembrane protein 159							188.0	154.0	166.0					16																	21181905		2200	4300	6500	SO:0001583	missense	57146	0	0					g.chr16:21181905C>A	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.244C>A	chr16.hg19:g.21181905C>A	ENSP00000233047:p.Leu82Met	0					TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M	p.L82M			1	2	3	2.056757	Q96B96	TM159_HUMAN		3	712	+			A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	1	1	hg19	c.244C>A	CCDS10595.1	1	.	.	.	.	.	.	.	.	.	.	C	5.328	0.245831	0.10077	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.18810	2.19;2.19;2.19	5.48	0.112	0.14623	5.48	0.112	0.14623	.	0.453294	0.21551	N	0.072728	T	0.07954	0.0199	N	0.11255	0.115	0.25155	N	0.990391	B;B	0.22003	0.053;0.063	B;B	0.20955	0.032;0.013	T	0.19031	-1.0318	10	0.36615	T	0.2	-4.6191	1.3316	0.02136	0.2386:0.2792:0.3437:0.1385	.	106;82	B4DEC1;Q96B96	.;TM159_HUMAN	M	82;82;106	ENSP00000233047:L82M;ENSP00000261388:L82M;ENSP00000409879:L106M	ENSP00000233047:L82M	L	+	1	2	2	TMEM159	21089406	21089406	0.966000	0.33281	0.822000	0.32727	0.061000	0.15899	0.354000	0.20146	0.026000	0.15269	-0.147000	0.13772	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	1	0	1		24	10	2	1		1	1	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_020422			135	131		457	447	1		1	1		1	0	74	0		1	1	0	51	0	124	0	135	457
TSC2	7249	broad.mit.edu	37	16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1045					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(3133-3135)tCt>tTt		tuberous sclerosis 2							91.0	77.0	82.0					16																	2129279		2197	4300	6497	SO:0001583	missense	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2129279C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3134C>T	chr16.hg19:g.2129279C>T	ENSP00000219476:p.Ser1045Phe	0					TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000568366.1_3'UTR	p.S1045F	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		28	3764	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	1	1	hg19	c.3134C>T	CCDS10458.1	1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695163	0.68386	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.91996	-2.87;-2.88;-2.95;-2.93;-2.84	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D	0.91635	0.986;0.999;0.994;0.999;0.988;0.982	D	0.94960	0.8107	10	0.40728	T	0.16	-24.1477	18.0348	0.89296	0.0:1.0:0.0:0.0	.	953;965;1045;1001;1001;1045	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	1045;1002;1002;965;953;1045	ENSP00000219476:S1045F;ENSP00000248099:S1002F;ENSP00000399232:S965F;ENSP00000371978:S953F;ENSP00000344383:S1045F	ENSP00000219476:S1045F	S	+	2	0	0	TSC2	2069280	2069280	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	5.798000	0.69095	2.339000	0.79563	0.561000	0.74099	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_000548			88	85		363	356	1		1	1		0	0	78	0		1	1	0	32	0	106	0	88	363
TSC2	7249	broad.mit.edu	37	16	2130198	2130198	+	Missense_Mutation	SNP	G	G	A	rs45517294	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130198G>A	ENST00000219476.3	+	30	4060	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1144			V -> M (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCCCTGGACGTGCCGGCCTC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.110000	1	1.400000e-01	0.190000	0.335652	0.190000	0.180000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56	GRCh37	CM983889	TSC2	M	rs45517294	c.(3430-3432)Gtg>Atg		tuberous sclerosis 2		G	MET/VAL,MET/VAL,MET/VAL	1,4395	2.1+/-5.4	0,1,2197	100.0	106.0	104.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3430,3298,3430	-9.5	0.0	16	dbSNP_127	104	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	21,21,21	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	1144/1808,1100/1741,1144/1785	2130198	2,12990	2198	4298	6496	SO:0001583	missense	7249	27	121358	49	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2130198G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3430G>A	chr16.hg19:g.2130198G>A	ENSP00000219476:p.Val1144Met	0					TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M	p.V1144M	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		30	4060	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	0	1	hg19	c.3430G>A	CCDS10458.1	0	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788889	0.31685	2.27E-4	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89050	-2.38;-2.37;-2.46;-2.41;-2.38	4.74	-9.47	0.00594	4.74	-9.47	0.00594	.	1.939910	0.02201	N	0.062319	T	0.74989	0.3789	N	0.08118	0	0.09310	N	1	B;B;P;B;B;P	0.43024	0.029;0.049;0.485;0.049;0.086;0.798	B;B;B;B;B;B	0.38803	0.008;0.018;0.282;0.018;0.013;0.089	T	0.75150	-0.3419	10	0.48119	T	0.1	0.0994	10.1082	0.42546	0.6815:0.172:0.1466:0.0	.	1052;1064;1144;1100;1100;1144	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	1144;1101;1101;1064;1052;1144	ENSP00000219476:V1144M;ENSP00000248099:V1101M;ENSP00000399232:V1064M;ENSP00000371978:V1052M;ENSP00000344383:V1144M	ENSP00000219476:V1144M	V	+	1	0	0	TSC2	2070199	2070199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	-2.326000	0.00637	-1.186000	0.01703	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	0	0	1		2	2	2	0		0	0	170		170	168	1	2.060000	-3.143343	1	0.170000	NM_000548			17	16		1082	1069	0		1	0		0	0	170	0		9.999597e-01	2.043105e-01	0	0	0	51	0	17	1082
TSC2	7249	broad.mit.edu	37	16	2130329	2130329	+	Silent	SNP	G	G	A	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000568454.1_Silent_p.V1154V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000350773.4_Silent_p.V1187V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1187					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(3559-3561)gtG>gtA		tuberous sclerosis 2							48.0	54.0	52.0					16																	2130329		2198	4298	6496	SO:0001819	synonymous_variant	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2130329G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3561G>A	chr16.hg19:g.2130329G>A		0					TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000568454.1_Silent_p.V1154V	p.V1187V	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		30	4191	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	1	1	hg19	c.3561G>A	CCDS10458.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_000548			103	100		452	442	1		1	1		0	0	98	0		1	9.999970e-01	0	27	0	54	0	103	452
TSC2	7249	broad.mit.edu	37	16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1343					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(4027-4029)gaG>gaT		tuberous sclerosis 2							24.0	21.0	22.0					16																	2134252		2187	4292	6479	SO:0001583	missense	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2134252G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4029G>T	chr16.hg19:g.2134252G>T	ENSP00000219476:p.Glu1343Asp	0					TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D	p.E1343D	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		34	4659	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	1	1	hg19	c.4029G>T	CCDS10458.1	1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175842	0.09443	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.90261	-2.46;-2.56;-2.48;-2.64;-2.6;-2.57	4.86	-0.0207	0.13955	4.86	-0.0207	0.13955	.	0.262292	0.36665	N	0.002468	T	0.75939	0.3918	N	0.12746	0.255	0.34610	D	0.717498	B;B;B;B;B;B;B	0.23735	0.004;0.008;0.008;0.09;0.008;0.008;0.003	B;B;B;B;B;B;B	0.22386	0.008;0.019;0.019;0.039;0.019;0.019;0.004	T	0.64529	-0.6386	10	0.15499	T	0.54	-29.8903	6.3064	0.21141	0.3882:0.0:0.4925:0.1193	.	1228;1240;1320;118;1299;1276;1343	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1343;1277;1300;1240;1228;1320	ENSP00000219476:E1343D;ENSP00000384468:E1277D;ENSP00000248099:E1300D;ENSP00000399232:E1240D;ENSP00000371978:E1228D;ENSP00000344383:E1320D	ENSP00000219476:E1343D	E	+	3	2	2	TSC2	2074253	2074253	0.924000	0.31332	0.999000	0.59377	0.684000	0.39900	0.003000	0.13083	0.122000	0.18314	-0.221000	0.12465	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_000548			25	25		64	60	0		1	1		0	0	10	0		9.999999e-01	1	0	30	0	71	0	25	64
TSC2	7249	broad.mit.edu	37	16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1590	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			0				56						c.(4768-4770)Gac>Aac		tuberous sclerosis 2							121.0	95.0	104.0					16																	2136299		2198	4299	6497	SO:0001583	missense	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2136299G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4768G>A	chr16.hg19:g.2136299G>A	ENSP00000219476:p.Asp1590Asn	0					TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N	p.D1590N	NM_000548.3	NP_000539.2	1	2	3	2.056757	P49815	TSC2_HUMAN		37	5398	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	1	1	hg19	c.4768G>A	CCDS10458.1	1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851442	0.71719	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	4.47	3.51	0.40186	4.47	3.51	0.40186	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	N	0.04959	-0.14	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;0.999;0.998;0.213;0.998;0.998;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.996;0.997;0.345;0.997;0.997;0.998	D	0.88000	0.2755	10	0.11794	T	0.64	-24.0776	13.8775	0.63662	0.0:0.0:0.8464:0.1536	.	1475;1487;1567;365;1546;1523;1590	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1590;1524;1547;1487;1475;1567	ENSP00000219476:D1590N;ENSP00000248099:D1547N;ENSP00000399232:D1487N;ENSP00000371978:D1475N;ENSP00000344383:D1567N	ENSP00000219476:D1590N	D	+	1	0	0	TSC2	2076300	2076300	1.000000	0.71417	0.819000	0.32651	0.706000	0.40770	7.741000	0.84997	1.077000	0.40990	0.561000	0.74099	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_000548			60	60		222	218	1		1	1		0	0	44	0		1	1	0	33	0	85	0	60	222
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642																																						ENST00000262304.4	1.000000	0.310000	1	3.800000e-01	0.470000	0.553618	0.470000	0.450000																										0				72						c.(11089-11091)caC>caT		polycystic kidney disease 1 (autosomal dominant)							107.0	107.0	107.0					16																	2143020		2198	4299	6497	SO:0001819	synonymous_variant	5310	0	0					g.chr16:2143020G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11091C>T	chr16.hg19:g.2143020G>A		0					RP11-304L19.3_ENST00000565937.1_RNA|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	p.H3697H	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		38	11299	-			Q15140|Q15141	Silent	SNP	ENST00000262304.4	1	1	hg19	c.11091C>T	CCDS32369.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0		21	4	2	1		1	1	142		142	141	1	2.060000	-4.078068	1	0.170000				33	33		849	835	0		1	0		1	0	142	0		9.589796e-01	4.443229e-01	0	1	0	88	0	33	849
PKD1	5310	broad.mit.edu	37	16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3393					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(10177-10179)Gtt>Att		polycystic kidney disease 1 (autosomal dominant)							91.0	101.0	97.0					16																	2147772		2198	4300	6498	SO:0001583	missense	5310	0	0					g.chr16:2147772C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10177G>A	chr16.hg19:g.2147772C>T	ENSP00000262304:p.Val3393Ile	0					RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	p.V3393I	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		32	10385	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.10177G>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601532	0.13939	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.4	4.44	-1.98	0.07480	4.44	-1.98	0.07480	.	0.805808	0.11217	N	0.587105	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P;B	0.35226	0.491;0.128	B;B	0.27076	0.076;0.05	T	0.16541	-1.0399	10	0.34782	T	0.22	.	6.1194	0.20144	0.5948:0.2285:0.0:0.1767	.	3392;3393	P98161-3;P98161	.;PKD1_HUMAN	I	3393;3392;2727	ENSP00000262304:V3393I;ENSP00000399501:V3392I	ENSP00000262304:V3393I	V	-	1	0	0	PKD1	2087773	2087773	0.134000	0.22483	0.047000	0.18901	0.004000	0.04260	0.088000	0.14979	-0.109000	0.12044	-0.300000	0.09419	GTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-20.000000	1	0.170000				176	157		816	744	1		1	1		0	0	202	0		1	9.998253e-01	0	6	0	53	0	176	816
PKD1	5310	broad.mit.edu	37	16	2147955	2147955	+	Missense_Mutation	SNP	C	C	T	rs556305710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	ENST00000262304.4	-	31	10289	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3361					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGCTGCCCGGCAGGTGTG	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		16616	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(10081-10083)Ggg>Agg		polycystic kidney disease 1 (autosomal dominant)							6.0	7.0	7.0					16																	2147955		2077	4122	6199	SO:0001583	missense	5310	14	118592	39				g.chr16:2147955C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10081G>A	chr16.hg19:g.2147955C>T	ENSP00000262304:p.Gly3361Arg	0					RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	p.G3361R	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		31	10289	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	0	1	hg19	c.10081G>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159263	0.38119	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	4.29	2.28	0.28536	4.29	2.28	0.28536	.	0.251232	0.37955	N	0.001866	T	0.32133	0.0819	M	0.62723	1.935	0.23411	N	0.997732	P;P	0.47841	0.901;0.748	B;B	0.39217	0.294;0.106	T	0.21655	-1.0239	10	0.21014	T	0.42	.	13.3637	0.60671	0.0:0.8516:0.0:0.1484	.	3361;3361	P98161-3;P98161	.;PKD1_HUMAN	R	3361;3361;2696	ENSP00000262304:G3361R;ENSP00000399501:G3361R	ENSP00000262304:G3361R	G	-	1	0	0	PKD1	2087956	2087956	0.768000	0.28519	0.002000	0.10522	0.017000	0.09413	1.389000	0.34453	0.112000	0.17975	-1.164000	0.01763	GGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	14		14	16	1	2.060000	-3.908981	1	0.170000				29	21		99	69	0		1	1		0	0	14	0		9.999996e-01	9.991899e-01	0	5	0	37	0	29	99
PKD1	5310	broad.mit.edu	37	16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2883					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(8647-8649)gCt>gAt		polycystic kidney disease 1 (autosomal dominant)							33.0	37.0	36.0					16																	2153410		2030	3976	6006	SO:0001583	missense	5310	0	0					g.chr16:2153410G>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8648C>A	chr16.hg19:g.2153410G>T	ENSP00000262304:p.Ala2883Asp	0					PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	p.A2883D	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		23	8856	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.8648C>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063084	0.55432	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36520	1.25;1.25	4.65	2.58	0.30949	4.65	2.58	0.30949	.	0.440473	0.23298	N	0.049704	T	0.33760	0.0874	M	0.65975	2.015	0.09310	N	1	B;P	0.48911	0.013;0.917	B;P	0.46850	0.014;0.529	T	0.13602	-1.0503	10	0.10902	T	0.67	.	5.5778	0.17233	0.1112:0.2203:0.6685:0.0	.	2883;2883	P98161-3;P98161	.;PKD1_HUMAN	D	2883;2883;2218	ENSP00000262304:A2883D;ENSP00000399501:A2883D	ENSP00000262304:A2883D	A	-	2	0	0	PKD1	2093411	2093411	0.000000	0.05858	0.124000	0.21820	0.088000	0.18126	0.548000	0.23314	1.183000	0.42943	0.555000	0.69702	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	135		135	140	1	2.060000	-20.000000	1	0.170000				175	144		687	569	0		1	1		0	0	135	0		1	9.978013e-01	0	10	0	28	0	175	687
PKD1	5310	broad.mit.edu	37	16	2153863	2153863	+	Missense_Mutation	SNP	C	C	T	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	ENST00000262304.4	-	23	8403	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2732	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGTGCCCGCACGTCCGA	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		10585	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				72						c.(8194-8196)cGg>cAg		polycystic kidney disease 1 (autosomal dominant)		C	GLN/ARG,GLN/ARG	0,4328		0,0,2164	15.0	15.0	15.0		8195,8195	1.9	0.0	16	dbSNP_131	15	2,8538		0,2,4268	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	43,43	0,2,6432	TT,TC,CC		0.0234,0.0,0.0155	benign,benign	2732/4303,2732/4304	2153863	2,12866	2164	4270	6434	SO:0001583	missense	5310	10	119946	40				g.chr16:2153863C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8195G>A	chr16.hg19:g.2153863C>T	ENSP00000262304:p.Arg2732Gln	0					PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q	p.R2732Q	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		23	8403	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.8195G>A	CCDS32369.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.137	0.393575	0.11638	0.0	2.34E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32272	1.46;1.46	4.41	1.91	0.25777	4.41	1.91	0.25777	Egg jelly receptor, REJ-like (1);	0.372642	0.27650	N	0.018440	T	0.04815	0.0130	N	0.00162	-1.95	0.09310	N	1	B;B	0.15719	0.011;0.014	B;B	0.04013	0.001;0.001	T	0.37888	-0.9686	10	0.06757	T	0.87	.	4.7784	0.13190	0.0:0.1667:0.3067:0.5266	.	2732;2732	P98161-3;P98161	.;PKD1_HUMAN	Q	2732;2732;2067;1011	ENSP00000262304:R2732Q;ENSP00000399501:R2732Q	ENSP00000262304:R2732Q	R	-	2	0	0	PKD1	2093864	2093864	0.323000	0.24643	0.022000	0.16811	0.001000	0.01503	0.449000	0.21744	0.211000	0.20683	-0.678000	0.03780	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				23	23		97	95	0		1	1		0	0	26	0		9.999997e-01	9.975001e-01	0	5	0	39	0	23	97
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4639-4641)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							43.0	48.0	46.0					16																	2160529		2195	4289	6484	SO:0001583	missense	5310	0	0					g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	chr16.hg19:g.2160529G>A	ENSP00000262304:p.Arg1547Cys	0					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		15	4847	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.4639C>T	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	0	PKD1	2100530	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000				123	122		465	459	1		1	1		0	0	83	0		1	9.967551e-01	0	8	0	27	0	123	465
PKD1	5310	broad.mit.edu	37	16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1136	PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				72						c.(3406-3408)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							15.0	17.0	16.0					16																	2161761		2172	4287	6459	SO:0001583	missense	5310	0	0					g.chr16:2161761C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3407G>A	chr16.hg19:g.2161761C>T	ENSP00000262304:p.Gly1136Asp	0					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	p.G1136D	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		15	3615	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.3407G>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	c	8.145	0.786085	0.16189	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67345	-0.26;-0.26	5.66	-5.54	0.02544	5.66	-5.54	0.02544	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	1.816110	0.02356	N	0.076399	T	0.39682	0.1087	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.004;0.012	T	0.35773	-0.9775	10	0.12103	T	0.63	.	8.7888	0.34837	0.0:0.1369:0.4152:0.4479	.	1136;1136	P98161-3;P98161	.;PKD1_HUMAN	D	1136;1136;851	ENSP00000262304:G1136D;ENSP00000399501:G1136D	ENSP00000262304:G1136D	G	-	2	0	0	PKD1	2101762	2101762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.110000	0.02992	-0.147000	0.13772	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000				19	18		77	76	0		1	1		0	0	16	0		9.999947e-01	9.673265e-01	0	6	0	20	0	19	77
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	G	A	rs530066894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.|PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15930	0.0		0.0	False		,,,				2504	0.0					ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3382-3384)tcC>tcT		polycystic kidney disease 1 (autosomal dominant)							18.0	20.0	19.0					16																	2161784		2185	4285	6470	SO:0001819	synonymous_variant	5310	5	120270	41				g.chr16:2161784G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3384C>T	chr16.hg19:g.2161784G>A		0					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.S1128S	p.S1128S	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		15	3592	-			Q15140|Q15141	Silent	SNP	ENST00000262304.4	1	1	hg19	c.3384C>T	CCDS32369.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				27	26		88	88	1		1	1		0	0	25	0		1	9.722803e-01	0	4	0	18	0	27	88
PKD1	5310	broad.mit.edu	37	16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	PKD1_ENST00000423118.1_Missense_Mutation_p.V873L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	873	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2617-2619)Gtc>Ctc		polycystic kidney disease 1 (autosomal dominant)							19.0	16.0	17.0					16																	2164407		2179	4276	6455	SO:0001583	missense	5310	0	0					g.chr16:2164407C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2617G>C	chr16.hg19:g.2164407C>G	ENSP00000262304:p.Val873Leu	0					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	p.V873L	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		11	2825	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.2617G>C	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	c	5.489	0.275161	0.10403	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.33865	1.39;1.39	4.96	-7.17	0.01511	4.96	-7.17	0.01511	Polycystin cation channel (1);	0.538685	0.18726	N	0.132895	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.39692	T	0.17	.	4.6711	0.12689	0.1067:0.2556:0.0826:0.5551	.	873;873	P98161-3;P98161	.;PKD1_HUMAN	L	873	ENSP00000262304:V873L;ENSP00000399501:V873L	ENSP00000262304:V873L	V	-	1	0	0	PKD1	2104408	2104408	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-3.652000	0.00403	-0.952000	0.03649	-0.476000	0.04901	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000				39	35		141	133	1		1	1		0	0	21	0		1	9.677859e-01	0	5	0	18	0	39	141
PKD1	5310	broad.mit.edu	37	16	2164529	2164529	+	Missense_Mutation	SNP	C	C	T	rs565256491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	ENST00000262304.4	-	11	2703	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PKD1_ENST00000423118.1_Missense_Mutation_p.R832H|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	832					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGCCGTCGCGGGGGGCAGG	0.692													c|||	1	0.000199681	0.0	0.0	5008	,	,		14696	0.0		0.0	False		,,,				2504	0.001					ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2494-2496)cGc>cAc		polycystic kidney disease 1 (autosomal dominant)							8.0	7.0	7.0					16																	2164529		1648	3207	4855	SO:0001583	missense	5310	7	114232	35				g.chr16:2164529C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2495G>A	chr16.hg19:g.2164529C>T	ENSP00000262304:p.Arg832His	0					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R832H	p.R832H	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		11	2703	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.2495G>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	t	0.094	-1.162638	0.01673	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.34472	1.36;1.36	5.39	1.4	0.22301	5.39	1.4	0.22301	Polycystin cation channel (1);	0.707453	0.14522	N	0.314417	T	0.08492	0.0211	N	0.00347	-1.61	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.35822	-0.9773	10	0.17369	T	0.5	.	6.2873	0.21041	0.37:0.074:0.0:0.556	.	832;832	P98161-3;P98161	.;PKD1_HUMAN	H	832	ENSP00000262304:R832H;ENSP00000399501:R832H	ENSP00000262304:R832H	R	-	2	0	0	PKD1	2104530	2104530	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	0.918000	0.28678	-0.032000	0.13758	-0.255000	0.11280	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1		2	2	2	0		0	0	16		16	18	1	2.060000	-20.000000	1	0.170000				31	28		110	85	0		1	1		0	0	16	0		1	8.113878e-01	0	2	0	11	0	31	110
PKD1	5310	broad.mit.edu	37	16	2168027	2168027	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	ENST00000262304.4	-	5	1174	c.966G>A	c.(964-966)tcG>tcA	p.S322S	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.S322S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	322	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCGATGCGAGGCAGCCG	0.701																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(964-966)tcG>tcA		polycystic kidney disease 1 (autosomal dominant)							4.0	5.0	5.0					16																	2168027		1874	3896	5770	SO:0001819	synonymous_variant	5310	0	0					g.chr16:2168027C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.966G>A	chr16.hg19:g.2168027C>T		0					PKD1_ENST00000423118.1_Silent_p.S322S|RP11-304L19.2_ENST00000562027.1_RNA	p.S322S	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		5	1174	-			Q15140|Q15141	Silent	SNP	ENST00000262304.4	0	1	hg19	c.966G>A	CCDS32369.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0		2	2	2	0		0	0	18		18	23	1	2.060000	-20.000000	1	0.170000				42	21		109	60	0		1	0		0	0	18	0		1	8.100541e-01	0	1	0	9	0	42	109
PKD1	5310	broad.mit.edu	37	16	2168110	2168110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168110C>T	ENST00000262304.4	-	5	1091	c.883G>A	c.(883-885)Gct>Act	p.A295T	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	295	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGGGCAGCGATGTGGAAG	0.711																																						ENST00000262304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(883-885)Gct>Act		polycystic kidney disease 1 (autosomal dominant)							6.0	8.0	8.0					16																	2168110		2039	4114	6153	SO:0001583	missense	5310	0	0					g.chr16:2168110C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.883G>A	chr16.hg19:g.2168110C>T	ENSP00000262304:p.Ala295Thr	0					PKD1_ENST00000423118.1_Missense_Mutation_p.A295T|RP11-304L19.2_ENST00000562027.1_RNA	p.A295T	NM_001009944.2	NP_001009944	1	2	3	2.056757	P98161	PKD1_HUMAN		5	1091	-			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	1	1	hg19	c.883G>A	CCDS32369.1	1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.622001	0.00820	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60548	0.18;0.18	4.78	1.04	0.20106	4.78	1.04	0.20106	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.664574	0.14722	N	0.302282	T	0.25382	0.0617	N	0.02708	-0.52	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.13407	0.001;0.009	T	0.24083	-1.0170	10	0.07990	T	0.79	.	7.8225	0.29296	0.0:0.3811:0.0:0.6189	.	295;295	P98161-3;P98161	.;PKD1_HUMAN	T	295;295;228	ENSP00000262304:A295T;ENSP00000399501:A295T	ENSP00000262304:A295T	A	-	1	0	0	PKD1	2108111	2108111	0.091000	0.21658	0.000000	0.03702	0.464000	0.32679	0.595000	0.24029	-0.086000	0.12550	0.444000	0.29173	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000				30	20		116	87	0		1	1		0	0	16	0		9.999998e-01	9.311396e-01	0	2	0	18	0	30	116
ANKS4B	257629	broad.mit.edu	37	16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	319					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507																																						ENST00000311620.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(955-957)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 4B							151.0	160.0	157.0					16																	21261844		2089	4223	6312	SO:0001583	missense	257629	0	0					g.chr16:21261844G>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.957G>T	chr16.hg19:g.21261844G>T	ENSP00000308772:p.Glu319Asp	0						p.E319D	NM_145865.2	NP_665872.2	1	2	3	2.056757	Q8N8V4	ANS4B_HUMAN		2	1030	+				Missense_Mutation	SNP	ENST00000311620.5	1	1	hg19	c.957G>T	CCDS42130.1	1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058951	0.01950	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.87	0.135	0.14775	5.87	0.135	0.14775	.	0.583457	0.18380	N	0.142989	T	0.30386	0.0763	L	0.60455	1.87	0.32789	N	0.501461	B	0.15930	0.015	B	0.14578	0.011	T	0.31420	-0.9944	10	0.12430	T	0.62	-7.3885	5.6077	0.17389	0.3447:0.2906:0.3646:0.0	.	319	Q8N8V4	ANS4B_HUMAN	D	319	ENSP00000308772:E319D	ENSP00000308772:E319D	E	+	3	2	2	ANKS4B	21169345	21169345	0.000000	0.05858	0.282000	0.24776	0.009000	0.06853	-0.491000	0.06474	0.053000	0.16036	-0.283000	0.09986	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.978203	1	0.170000	NM_145865			40	38		197	193	1		1	1		0	0	47	0		1	9.996778e-01	0	33	0	30	0	40	197
OTOA	146183	broad.mit.edu	37	16	21721387	21721387	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21721387T>C	ENST00000286149.4	+	12	1326	c.1325T>C	c.(1324-1326)gTc>gCc	p.V442A	OTOA_ENST00000388958.3_Missense_Mutation_p.V428A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A			Q7RTW8	OTOAN_HUMAN	otoancorin	442					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)				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)		AAGAGCCAGGTCATCATCTTG	0.512																																						ENST00000286149.4	1.000000	0.210000	1	3.400000e-01	0.530000	0.594810	0.530000	0.430000																										0				46						c.(1324-1326)gTc>gCc		otoancorin							69.0	58.0	62.0					16																	21721387		2199	4300	6499	SO:0001583	missense	146183	0	0					g.chr16:21721387T>C	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.1325T>C	chr16.hg19:g.21721387T>C	ENSP00000286149:p.Val442Ala	0					OTOA_ENST00000388957.3_Missense_Mutation_p.V104A|OTOA_ENST00000388958.3_Missense_Mutation_p.V428A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A	p.V442A			1	2	3	2.056757	Q7RTW8	OTOAN_HUMAN		12	1326	+			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	0	1	hg19	c.1325T>C		0	.	.	.	.	.	.	.	.	.	.	T	9.963	1.223292	0.22457	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.21	1.68	0.24146	5.21	1.68	0.24146	.	0.662679	0.14853	N	0.294589	T	0.67571	0.2907	L	0.50333	1.59	0.24453	N	0.994475	B;B;B;B	0.13594	0.008;0.008;0.002;0.008	B;B;B;B	0.15052	0.012;0.012;0.003;0.012	T	0.50890	-0.8774	10	0.19147	T	0.46	-2.4377	8.0775	0.30724	0.0:0.2387:0.0:0.7613	.	442;349;104;428	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	428;442;349;104	ENSP00000373610:V428A;ENSP00000286149:V442A;ENSP00000373608:V349A;ENSP00000373609:V104A	ENSP00000286149:V442A	V	+	2	0	0	OTOA	21628888	21628888	0.203000	0.23435	0.684000	0.30055	0.998000	0.95712	0.413000	0.21148	0.004000	0.14682	0.523000	0.50628	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-3.711572	1	0.170000				6	6		152	149	0		1			0	0	18	0		9.637871e-01	0	0	0	0	0	0	6	152
OTOA	146183	broad.mit.edu	37	16	21739636	21739636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000286149.4	+	19	2134	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	OTOA_ENST00000388958.3_Silent_p.I697I|OTOA_ENST00000388956.4_Silent_p.I618I|OTOA_ENST00000388957.3_Silent_p.I373I			Q7RTW8	OTOAN_HUMAN	otoancorin	711					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)				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)		CAGCCATCATCGACAGGGGGA	0.582																																						ENST00000286149.4	1.000000	0.540000	1	6.500000e-01	0.800000	0.814700	0.800000	1.000000																										0				46						c.(2131-2133)atC>atT		otoancorin							97.0	84.0	88.0					16																	21739636		2198	4300	6498	SO:0001819	synonymous_variant	146183	3	121412	35				g.chr16:21739636C>T	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.2133C>T	chr16.hg19:g.21739636C>T		0					OTOA_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388958.3_Silent_p.I697I|OTOA_ENST00000388956.4_Silent_p.I618I	p.I711I			1	2	3	2.056757	Q7RTW8	OTOAN_HUMAN		19	2134	+			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	1	1	hg19	c.2133C>T		0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-7.808436	1	0.170000				32	32		470	458	0		1			0	0	82	0		1	0	0	0	0	0	0	32	470
VWA3A	146177	broad.mit.edu	37	16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	574	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498																																						ENST00000389398.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1720-1722)gCc>gTc		von Willebrand factor A domain containing 3A							72.0	72.0	72.0					16																	22142594		1956	4143	6099	SO:0001583	missense	146177	0	0					g.chr16:22142594C>T	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.1721C>T	chr16.hg19:g.22142594C>T	ENSP00000374049:p.Ala574Val	0					VWA3A_ENST00000389397.4_5'UTR	p.A574V	NM_173615.3	NP_775886.3	1	2	3	2.056757	A6NCI4	VWA3A_HUMAN		18	1817	+			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	1	1	hg19	c.1721C>T	CCDS45441.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323604	0.81580	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09073	3.02	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.068546	0.64402	D	0.000017	T	0.28234	0.0697	M	0.73319	2.225	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.66084	0.941;0.785	T	0.01121	-1.1445	10	0.87932	D	0	.	17.295	0.87168	0.0:1.0:0.0:0.0	.	574;198	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	574;197	ENSP00000374049:A574V	ENSP00000299840:A197V	A	+	2	0	0	VWA3A	22050095	22050095	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.885000	0.63142	2.415000	0.81967	0.558000	0.71614	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-19.999490	1	0.170000				34	33		124	121	1		1			0	0	29	0		1	0	0	0	0	0	0	34	124
TRAF7	84231	broad.mit.edu	37	16	2223366	2223366	+	Silent	SNP	C	C	T	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	326					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637																																						ENST00000326181.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				23						c.(976-978)atC>atT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							61.0	59.0	59.0					16																	2223366		2198	4300	6498	SO:0001819	synonymous_variant	84231	1	121406	27				g.chr16:2223366C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.978C>T	chr16.hg19:g.2223366C>T		0						p.I326I	NM_032271.2	NP_115647.2	1	2	3	2.056757	Q6Q0C0	TRAF7_HUMAN		10	1110	+			Q9H073	Silent	SNP	ENST00000326181.6	1	1	hg19	c.978C>T	CCDS10461.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_032271			37	37		225	220	1		1	1		0	0	81	0		1	1	0	113	0	230	0	37	225
TRAF7	84231	broad.mit.edu	37	16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	370					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706																																						ENST00000326181.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1108-1110)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							38.0	37.0	38.0					16																	2223811		2197	4298	6495	SO:0001583	missense	84231	0	0					g.chr16:2223811C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1109C>T	chr16.hg19:g.2223811C>T	ENSP00000318944:p.Ala370Val	0						p.A370V	NM_032271.2	NP_115647.2	1	2	3	2.056757	Q6Q0C0	TRAF7_HUMAN		12	1241	+			Q9H073	Missense_Mutation	SNP	ENST00000326181.6	1	1	hg19	c.1109C>T	CCDS10461.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280166	0.80692	.	.	ENSG00000131653	ENST00000326181	T	0.51071	0.72	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.24115	0.695	0.80722	D	1	P	0.48640	0.913	B	0.31390	0.129	T	0.21381	-1.0247	10	0.39692	T	0.17	-20.8037	17.1906	0.86878	0.0:1.0:0.0:0.0	.	370	Q6Q0C0	TRAF7_HUMAN	V	370	ENSP00000318944:A370V	ENSP00000318944:A370V	A	+	2	0	0	TRAF7	2163812	2163812	1.000000	0.71417	0.111000	0.21465	0.848000	0.48234	7.195000	0.77798	2.521000	0.84997	0.655000	0.94253	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-20.000000	1	0.170000	NM_032271			48	49		215	209	0		1	1		0	0	51	0		1	1	0	131	0	231	0	48	215
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389398.5	+	31	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587																																						ENST00000389398.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				7						c.(3283-3285)gCg>gTg		von Willebrand factor A domain containing 3A																																				SO:0001583	missense	146177	0	0					g.chr16:22163834C>T	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.3284C>T	chr16.hg19:g.22163834C>T	ENSP00000374049:p.Ala1095Val	0					VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V	p.A1095V	NM_173615.3	NP_775886.3	1	2	3	2.056757	A6NCI4	VWA3A_HUMAN		31	3380	+			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	1	1	hg19	c.3284C>T	CCDS45441.1	1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783587	0.31593	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.10192	2.9;2.9	5.41	0.262	0.15597	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04137	0.0115	N	0.10733	0.035	0.09310	N	1	B;B	0.33379	0.209;0.41	B;B	0.22601	0.031;0.04	T	0.32508	-0.9904	10	0.18276	T	0.48	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	V	1095;197;718	ENSP00000374049:A1095V;ENSP00000374048:A197V	ENSP00000299840:A718V	A	+	2	0	0	VWA3A	22071335	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000				23	21		107	100	1		1			0	0	22	0		9.999993e-01	0	0	0	0	0	0	23	107
EEF2K	29904	broad.mit.edu	37	16	22268113	22268113	+	Silent	SNP	G	G	A	rs112106407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22268113G>A	ENST00000263026.5	+	7	1137	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	221	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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)			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)		AGGACAGACCGGGCAAGCCCC	0.597																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5	1.000000	0.160000	1	2.500000e-01	0.380000	0.479881	0.380000	0.340000																										0				29						c.(661-663)ccG>ccA		eukaryotic elongation factor-2 kinase							128.0	90.0	103.0					16																	22268113		2197	4300	6497	SO:0001819	synonymous_variant	29904	15	121412	40				g.chr16:22268113G>A	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.663G>A	chr16.hg19:g.22268113G>A		0						p.P221P	NM_013302.3	NP_037434	1	2	3	2.056757	O00418	EF2K_HUMAN		7	1137	+			Q8N588	Silent	SNP	ENST00000263026.5	0	1	hg19	c.663G>A	CCDS10604.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.137717	1	0.170000	NM_013302			7	7		246	241	0		1	0		0	0	40	0		9.796140e-01	4.950947e-01	0	0	0	55	0	7	246
POLR3E	55718	broad.mit.edu	37	16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	rs145630346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	71					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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18459	0.0		0.002	False		,,,				2504	0.0					ENST00000299853.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(211-213)cGc>cAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							130.0	104.0	112.0					16																	22320292		2197	4300	6497	SO:0001583	missense	55718	34	121412	47				g.chr16:22320292G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.212G>A	chr16.hg19:g.22320292G>A	ENSP00000299853:p.Arg71His	0					POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H	p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	1	2	3	2.056757	Q9NVU0	RPC5_HUMAN		5	379	+			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	1	1	hg19	c.212G>A	CCDS10605.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.615409	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.61387	1.9	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.977;0.868;0.95;0.971	D;P;B;P;B	0.71656	0.974;0.64;0.271;0.64;0.378	T	0.68880	-0.5292	10	0.87932	D	0	-18.8766	18.5571	0.91089	0.0:0.0:1.0:0.0	.	35;71;71;71;71	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	H	71;71;35	ENSP00000299853:R71H;ENSP00000352140:R71H;ENSP00000399254:R35H	ENSP00000299853:R71H	R	+	2	0	0	POLR3E	22227793	22227793	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.381000	0.97205	2.684000	0.91462	0.555000	0.69702	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.961238	1	0.170000	NM_018119			82	80		362	354	1		1	1		0	0	82	0		1	1	0	50	0	85	0	82	362
POLR3E	55718	broad.mit.edu	37	16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	138					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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627																																						ENST00000299853.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(412-414)aGc>aAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							50.0	51.0	51.0					16																	22324989		2197	4300	6497	SO:0001583	missense	55718	0	0					g.chr16:22324989G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.413G>A	chr16.hg19:g.22324989G>A	ENSP00000299853:p.Ser138Asn	0					POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N	p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	1	2	3	2.056757	Q9NVU0	RPC5_HUMAN		7	580	+			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	1	1	hg19	c.413G>A	CCDS10605.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337964	0.81911	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B;B	0.28400	0.116;0.009;0.116;0.075;0.116;0.21	B;B;B;B;B;B	0.35278	0.199;0.036;0.129;0.05;0.129;0.125	T	0.58730	-0.7585	10	0.87932	D	0	-18.61	18.0983	0.89498	0.0:0.0:1.0:0.0	.	82;102;138;138;138;138	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	138;138;102	ENSP00000299853:S138N;ENSP00000352140:S138N;ENSP00000399254:S102N	ENSP00000299853:S138N	S	+	2	0	0	POLR3E	22232490	22232490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.563000	0.86464	0.561000	0.74099	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_018119			68	68		266	258	1		1	1		0	0	46	0		1	9.999996e-01	0	33	0	55	0	68	266
CASKIN1	57524	broad.mit.edu	37	16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	274					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAACAGCTGCTTGATCTCCC	0.662																																						ENST00000343516.6	1.000000	0.320000	1	4.200000e-01	0.560000	0.623049	0.560000	0.520000																										0				28						c.(820-822)aaG>aaT		CASK interacting protein 1							75.0	77.0	77.0					16																	2237180		2146	4253	6399	SO:0001583	missense	57524	0	0					g.chr16:2237180C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.822G>T	chr16.hg19:g.2237180C>A	ENSP00000345436:p.Lys274Asn	0					CASKIN1_ENST00000564289.1_5'Flank	p.K274N	NM_020764.3	NP_065815.1	1	2	3	2.056757	Q8WXD9	CSKI1_HUMAN		8	914	-			Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	1	1	hg19	c.822G>T	CCDS42103.1	0	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201134	0.58234	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.69561	-0.41	3.69	1.7	0.24286	3.69	1.7	0.24286	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.68650	0.3024	L	0.34521	1.04	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.67696	-0.5604	9	0.72032	D	0.01	-22.2528	6.8935	0.24243	0.0:0.6855:0.0:0.3145	.	274	Q8WXD9	CSKI1_HUMAN	N	274;103	ENSP00000345436:K274N	ENSP00000345436:K274N	K	-	3	2	2	CASKIN1	2177181	2177181	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	0.891000	0.36235	0.455000	0.32223	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-16.954960	1	0.170000	NM_020764			16	16		353	342	0		1			0	0	70	0		9.999200e-01	0	0	0	0	0	0	16	353
CASKIN1	57524	broad.mit.edu	37	16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T	rs371614946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	160					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662																																						ENST00000343516.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				28						c.(478-480)cGc>cAc		CASK interacting protein 1		C	HIS/ARG	1,4025		0,1,2012	34.0	44.0	41.0		479	3.5	1.0	16		41	0,8318		0,0,4159	no	missense	CASKIN1	NM_020764.3	29	0,1,6171	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	160/1432	2239246	1,12343	2013	4159	6172	SO:0001583	missense	57524	2	120798	26				g.chr16:2239246C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.479G>A	chr16.hg19:g.2239246C>T	ENSP00000345436:p.Arg160His	0						p.R160H	NM_020764.3	NP_065815.1	1	2	3	2.056757	Q8WXD9	CSKI1_HUMAN		5	571	-			Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	1	1	hg19	c.479G>A	CCDS42103.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336137	0.60963	2.48E-4	0.0	ENSG00000167971	ENST00000343516	T	0.63417	-0.04	3.46	3.46	0.39613	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.54631	0.1870	N	0.01705	-0.755	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.66504	-0.5907	9	0.44086	T	0.13	-11.7501	14.0324	0.64624	0.0:1.0:0.0:0.0	.	160	Q8WXD9	CSKI1_HUMAN	H	160	ENSP00000345436:R160H	ENSP00000345436:R160H	R	-	2	0	0	CASKIN1	2179247	2179247	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	5.790000	0.69038	1.954000	0.56735	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_020764			38	37		199	193	1		1			0	0	45	0		1	0	0	0	0	0	0	38	199
MLST8	64223	broad.mit.edu	37	16	2256400	2256400	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Silent_p.I57I|MLST8_ENST00000564088.1_Silent_p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	57					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)				large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582																																						ENST00000569417.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(169-171)atT>atC		MTOR associated protein, LST8 homolog (S. cerevisiae)							114.0	115.0	115.0					16																	2256400		2032	4170	6202	SO:0001819	synonymous_variant	64223	0	0					g.chr16:2256400T>C		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.171T>C	chr16.hg19:g.2256400T>C		0					MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000397124.1_Silent_p.I57I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000561651.1_3'UTR	p.I57I	NM_022372.4	NP_071767.3	1	2	3	2.056757	Q9BVC4	LST8_HUMAN		3	525	+			B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	1	1	hg19	c.171T>C	CCDS10462.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_022372			70	67		355	348	1		1	1		0	0	78	0		1	9.999999e-01	0	22	0	97	0	70	355
PGP	283871	broad.mit.edu	37	16	2264199	2264199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_5'Flank	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	194					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				1						c.(580-582)Ctg>Ttg		phosphoglycolate phosphatase							10.0	12.0	12.0					16																	2264199		2049	4163	6212	SO:0001819	synonymous_variant	283871	0	0					g.chr16:2264199G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.580C>T	chr16.hg19:g.2264199G>A		0					BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	p.L194L	NM_001042371.2	NP_001035830.1	1	2	3	2.056757	A6NDG6	PGP_HUMAN		1	609	-				Silent	SNP	ENST00000333503.7	1	1	hg19	c.580C>T	CCDS42104.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_024118			22	22		93	92	0		1	1		0	0	19	0		9.999994e-01	9.999685e-01	0	23	0	55	0	22	93
PGP	283871	broad.mit.edu	37	16	2264203	2264203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_5'Flank	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	192					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998440	0.990000	1.000000																										0				1						c.(574-576)ggC>ggT		phosphoglycolate phosphatase							10.0	12.0	12.0					16																	2264203		2043	4147	6190	SO:0001819	synonymous_variant	283871	0	0					g.chr16:2264203G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.576C>T	chr16.hg19:g.2264203G>A		0					BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	p.G192G	NM_001042371.2	NP_001035830.1	1	2	3	2.056757	A6NDG6	PGP_HUMAN		1	605	-				Silent	SNP	ENST00000333503.7	1	1	hg19	c.576C>T	CCDS42104.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_024118			16	16		97	96	0		1	1		0	0	19	0		9.999527e-01	9.987865e-01	0	22	0	50	0	16	97
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000565090.1_Missense_Mutation_p.V121M|E4F1_ENST00000564139.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592																																						ENST00000301727.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V121L(1)	lung(1)	1						c.(361-363)Gtg>Atg		E4F transcription factor 1							100.0	105.0	104.0					16																	2279622		2198	4300	6498	SO:0001583	missense	1877	2	121404	40				g.chr16:2279622G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.361G>A	chr16.hg19:g.2279622G>A	ENSP00000301727:p.Val121Met	0					E4F1_ENST00000564139.1_Missense_Mutation_p.V121M|E4F1_ENST00000565090.1_Missense_Mutation_p.V121M	p.V121M	NM_004424.3	NP_004415.2	1	2	3	2.056757	Q66K89	E4F1_HUMAN		3	409	+			A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	1	1	hg19	c.361G>A	CCDS32370.1	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928132	0.52759	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.62	3.65	0.41850	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.07908	0.0198	L	0.53249	1.67	0.33903	D	0.638749	P;B;B	0.36315	0.547;0.338;0.174	B;B;B	0.23574	0.047;0.023;0.022	T	0.16394	-1.0404	10	0.72032	D	0.01	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	121	ENSP00000301727:V121M	ENSP00000301727:V121M	V	+	1	0	0	E4F1	2219623	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_004424			221	218		796	783	1		1	1		0	0	151	0		1	9.965663e-01	0	9	0	24	0	221	796
POLR3E	55718	broad.mit.edu	37	16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	253					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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622																																						ENST00000299853.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(757-759)aGc>aTc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							98.0	97.0	97.0					16																	22328345		2197	4300	6497	SO:0001583	missense	55718	0	0					g.chr16:22328345G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.758G>T	chr16.hg19:g.22328345G>T	ENSP00000299853:p.Ser253Ile	0					POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I	p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	1	2	3	2.056757	Q9NVU0	RPC5_HUMAN		11	925	+			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	1	1	hg19	c.758G>T	CCDS10605.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017760	0.35606	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46063	0.88;0.88;0.88	5.22	2.89	0.33648	5.22	2.89	0.33648	.	0.259797	0.45126	D	0.000383	T	0.26268	0.0641	N	0.11427	0.14	0.34833	D	0.739931	B;B;B;B;B;B	0.33883	0.43;0.43;0.229;0.191;0.143;0.376	B;B;B;B;B;B	0.37833	0.259;0.122;0.243;0.109;0.175;0.168	T	0.44726	-0.9309	10	0.87932	D	0	-11.3541	10.3174	0.43745	0.2381:0.0:0.7619:0.0	.	197;217;253;253;253;253	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	I	253;253;217	ENSP00000299853:S253I;ENSP00000352140:S253I;ENSP00000399254:S217I	ENSP00000299853:S253I	S	+	2	0	0	POLR3E	22235846	22235846	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.155000	0.42301	1.186000	0.42985	0.561000	0.74099	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_018119			129	128		506	492	1		1	1		0	0	113	0		1	1	0	44	0	79	0	129	506
HS3ST2	9956	broad.mit.edu	37	16	22826268	22826268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	ENST00000261374.3	+	1	771	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	113					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)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGTACCAAGCGGTTGCCCCA	0.716																																						ENST00000261374.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.996983	0.990000	1.000000																										0				19						c.(337-339)Cgg>Tgg		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							10.0	12.0	11.0					16																	22826268		2184	4293	6477	SO:0001583	missense	9956	0	0					g.chr16:22826268C>T	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.337C>T	chr16.hg19:g.22826268C>T	ENSP00000261374:p.Arg113Trp	0						p.R113W	NM_006043.1	NP_006034.1	1	2	3	2.056757	Q9Y278	HS3S2_HUMAN		1	771	+			Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	0	1	hg19	c.337C>T	CCDS10606.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994931	0.74703	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.51574	0.7	5.12	3.01	0.34805	5.12	3.01	0.34805	.	0.053328	0.64402	D	0.000001	T	0.51210	0.1661	L	0.36672	1.1	0.53688	D	0.999977	D	0.71674	0.998	D	0.63793	0.918	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.645	0.28315	0.2493:0.6578:0.0:0.0929	.	113	Q9Y278	HS3S2_HUMAN	W	113;121	ENSP00000261374:R113W	ENSP00000261374:R113W	R	+	1	2	2	HS3ST2	22733769	22733769	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.513000	0.22770	1.137000	0.42214	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999710	1	0.170000	NM_006043			14	12		88	84	0		1	0		0	0	14	0		9.997337e-01	2.689496e-01	0	0	0	7	0	14	88
HS3ST2	9956	broad.mit.edu	37	16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	187					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)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562																																						ENST00000261374.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(559-561)Gct>Act		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							103.0	96.0	98.0					16																	22926338		2197	4300	6497	SO:0001583	missense	9956	2	121412	33				g.chr16:22926338G>A	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.559G>A	chr16.hg19:g.22926338G>A	ENSP00000261374:p.Ala187Thr	0						p.A187T	NM_006043.1	NP_006034.1	1	2	3	2.056757	Q9Y278	HS3S2_HUMAN		2	993	+			Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	1	1	hg19	c.559G>A	CCDS10606.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655980	0.47467	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.25	4.3	0.51218	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.051785	0.85682	D	0.000000	T	0.45155	0.1328	L	0.43646	1.37	0.80722	D	1	P	0.42649	0.786	B	0.44044	0.439	T	0.42361	-0.9456	10	0.49607	T	0.09	.	13.1286	0.59369	0.0769:0.0:0.9231:0.0	.	187	Q9Y278	HS3S2_HUMAN	T	187;195	ENSP00000261374:A187T	ENSP00000261374:A187T	A	+	1	0	0	HS3ST2	22833839	22833839	1.000000	0.71417	0.999000	0.59377	0.153000	0.21895	5.575000	0.67430	1.225000	0.43566	0.561000	0.74099	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_006043			148	147		513	500	1		1	0		0	0	115	0		1	7.429664e-01	0	0	0	11	0	148	513
HS3ST2	9956	broad.mit.edu	37	16	22926574	22926574	+	Silent	SNP	G	G	A	rs373421243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265					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)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0					ENST00000261374.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(793-795)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							108.0	99.0	102.0					16																	22926574		2197	4300	6497	SO:0001819	synonymous_variant	9956	7	121412	46				g.chr16:22926574G>A	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.795G>A	chr16.hg19:g.22926574G>A		0						p.P265P	NM_006043.1	NP_006034.1	1	2	3	2.056757	Q9Y278	HS3S2_HUMAN		2	1229	+			Q52LZ1	Silent	SNP	ENST00000261374.3	1	1	hg19	c.795G>A	CCDS10606.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	0		2	2	2	0		0	0	179		179	174	1	2.060000	-4.260970	1	0.170000	NM_006043			189	190		686	671	1		1	0		0	0	179	0		1	8.057074e-01	0	0	0	13	0	189	686
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	C	T	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	271					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)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582																																						ENST00000261374.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(811-813)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 2		C		0,4394		0,0,2197	105.0	99.0	101.0		813	1.7	1.0	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		271/368	22926592	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9956	2	121412	38				g.chr16:22926592C>T	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.813C>T	chr16.hg19:g.22926592C>T		0						p.F271F	NM_006043.1	NP_006034.1	1	2	3	2.056757	Q9Y278	HS3S2_HUMAN		2	1247	+			Q52LZ1	Silent	SNP	ENST00000261374.3	1	1	hg19	c.813C>T	CCDS10606.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	0		2	2	2	0		0	0	192		192	185	1	2.060000	-20.000000	1	0.170000	NM_006043			209	208		736	723	1		1	0		0	0	192	0		1	8.753015e-01	0	0	0	15	0	209	736
USP31	57478	broad.mit.edu	37	16	23080093	23080093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	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)			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)		GCTTCTGTGGCGAAGGAGATG	0.587																																						ENST00000219689.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3331-3333)tcG>tcA		ubiquitin specific peptidase 31							99.0	106.0	103.0					16																	23080093		2197	4300	6497	SO:0001819	synonymous_variant	57478	1	121352	36				g.chr16:23080093C>T	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.3333G>A	chr16.hg19:g.23080093C>T		0					USP31_ENST00000567975.1_Silent_p.S404S	p.S1111S	NM_020718.3	NP_065769.3	1	2	3	2.056757	Q86UV5	UBP48_HUMAN		16	3332	-			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	1	1	hg19	c.3333G>A	CCDS10607.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	0	0	1		17	2	2	1		1	1	157		157	156	1	2.060000	-3.333802	1	0.170000	NM_020718			129	126		616	597	1		1	1		1	0	157	0		1	9.352143e-01	0	7	0	17	0	129	616
HBQ1	3049	broad.mit.edu	37	16	231010	231010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	111					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706																																						ENST00000199708.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(331-333)gCc>gTc		hemoglobin, theta 1							23.0	27.0	26.0					16																	231010		2203	4299	6502	SO:0001583	missense	3049	0	0					g.chr16:231010C>T	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.332C>T	chr16.hg19:g.231010C>T	ENSP00000199708:p.Ala111Val	0					Y_RNA_ENST00000384514.1_RNA	p.A111V	NM_005331.4	NP_005322.1	1	2	3	2.056757	P09105	HBAT_HUMAN		3	366	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	1	1	hg19	c.332C>T	CCDS10400.1	1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.497944	0.64186	.	.	ENSG00000086506	ENST00000199708	D	0.94966	-3.57	3.83	2.87	0.33458	3.83	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.89095	3.005	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	D	0.96715	0.9528	10	0.87932	D	0	-22.2468	10.336	0.43850	0.0:0.9026:0.0:0.0974	.	111	P09105	HBAT_HUMAN	V	111	ENSP00000199708:A111V	ENSP00000199708:A111V	A	+	2	0	0	HBQ1	171010	171010	0.968000	0.33430	0.881000	0.34555	0.993000	0.82548	2.412000	0.44609	0.819000	0.34492	0.486000	0.48141	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_005331			39	38		182	180	0		1			0	0	29	0		1	0	0	0	0	0	0	39	182
USP31	57478	broad.mit.edu	37	16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	294	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			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)		TCTTTAGATGTATAATAAGCA	0.498																																						ENST00000219689.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1927-1929)atA>atG		ubiquitin specific peptidase 31							94.0	86.0	89.0					16																	23093780		2197	4300	6497	SO:0001583	missense	57478	0	0					g.chr16:23093780T>C	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.1929A>G	chr16.hg19:g.23093780T>C	ENSP00000219689:p.Ile643Met	0						p.I643M	NM_020718.3	NP_065769.3	1	2	3	2.056757	Q86UV5	UBP48_HUMAN		12	1928	-			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	1	1	hg19	c.1929A>G	CCDS10607.1	1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751067	0.69533	.	.	ENSG00000103404	ENST00000219689	T	0.04083	3.71	4.75	-7.99	0.01131	4.75	-7.99	0.01131	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.155815	0.43110	D	0.000605	T	0.04182	0.0116	L	0.38175	1.15	0.80722	D	1	D	0.55800	0.973	P	0.49226	0.603	T	0.32508	-0.9904	10	0.72032	D	0.01	-2.6077	5.5788	0.17238	0.1062:0.1315:0.5449:0.2175	.	643	Q70CQ4	UBP31_HUMAN	M	643	ENSP00000219689:I643M	ENSP00000219689:I643M	I	-	3	3	3	USP31	23001281	23001281	0.017000	0.18338	0.011000	0.14972	0.999000	0.98932	-1.059000	0.03479	-1.905000	0.01090	0.528000	0.53228	ATA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_020718			83	82		324	319	1		1	1		0	0	68	0		1	9.939074e-01	0	12	0	21	0	83	324
ABCA3	21	broad.mit.edu	37	16	2328417	2328417	+	Silent	SNP	G	G	A	rs375910092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000301732.5	-	30	5290	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_ENST00000382381.3_Silent_p.I1472I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1530	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	CAGGCTCTCCGATCAGGGCGA	0.637																																						ENST00000301732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4588-4590)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3	Imatinib(DB00619)	G		0,4396		0,0,2198	72.0	66.0	68.0		4590	-10.8	0.0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1530/1705	2328417	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21	1	121410	29				g.chr16:2328417G>A	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.4590C>T	chr16.hg19:g.2328417G>A		0					ABCA3_ENST00000382381.3_Silent_p.I1472I	p.I1530I	NM_001089.2	NP_001080.2	1	2	3	2.056757	Q99758	ABCA3_HUMAN		30	5290	-		Ovarian(90;0.17)	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	1	1	hg19	c.4590C>T	CCDS10466.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1		2	2	2	0		0	0	80		80	81	1	2.060000	-3.343978	1	0.170000	NM_001089			90	87		359	354	1		1	1		0	0	80	0		1	1	0	39	0	62	0	90	359
ABCA3	21	broad.mit.edu	37	16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000301732.5	-	25	4439	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1247					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)			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)	AGGAACACGTGATCCAGGGTT	0.587																																						ENST00000301732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3739-3741)Cac>Tac		ATP-binding cassette, sub-family A (ABC1), member 3	Imatinib(DB00619)						144.0	137.0	140.0					16																	2334403		2198	4300	6498	SO:0001583	missense	21	0	0					g.chr16:2334403G>A	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.3739C>T	chr16.hg19:g.2334403G>A	ENSP00000301732:p.His1247Tyr	0					ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	p.H1247Y	NM_001089.2	NP_001080.2	1	2	3	2.056757	Q99758	ABCA3_HUMAN		25	4439	-		Ovarian(90;0.17)	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	1	1	hg19	c.3739C>T	CCDS10466.1	1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835772	0.16820	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86366	-2.11	5.31	2.05	0.26809	5.31	2.05	0.26809	.	0.740809	0.13088	N	0.414772	T	0.75391	0.3843	L	0.34521	1.04	0.53005	D	0.99996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.60561	-0.7239	10	0.06494	T	0.89	.	6.4674	0.21990	0.1554:0.0:0.6437:0.2009	.	1251;1247	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1247;1251	ENSP00000301732:H1247Y	ENSP00000301732:H1247Y	H	-	1	0	0	ABCA3	2274404	2274404	1.000000	0.71417	0.267000	0.24556	0.537000	0.34900	5.356000	0.66052	0.642000	0.30620	0.650000	0.86243	CAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000	NM_001089			117	118		515	510	1		1	1		0	0	111	0		1	9.999993e-01	0	30	0	59	0	117	515
SCNN1G	6340	broad.mit.edu	37	16	23226069	23226069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	510					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)			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)	TCTACAAAGACCTGAACCAGA	0.493																																						ENST00000300061.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1528-1530)gaC>gaT		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						87.0	83.0	84.0					16																	23226069		2197	4300	6497	SO:0001819	synonymous_variant	6340	0	0					g.chr16:23226069C>T	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.1530C>T	chr16.hg19:g.23226069C>T		0					CTC-391G2.1_ENST00000563471.1_RNA	p.D510D	NM_001039.3	NP_001030.2	1	2	3	2.056757	P51170	SCNNG_HUMAN		12	1673	+			P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	1	1	hg19	c.1530C>T	CCDS10608.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_001039			52	51		209	205	1		1	0		0	0	58	0		1	1.842833e-01	0	0	0	4	0	52	209
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	C	A	rs201804824		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000343070.2	+	3	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	173					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)			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)	ACCACAATGGCTTAACAAGCA	0.502																																						ENST00000343070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32	GRCh37	CI994507	SCNN1B	I		c.(517-519)ggC>ggA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						152.0	132.0	138.0					16																	23364329		2197	4300	6497	SO:0001819	synonymous_variant	6338	0	0					g.chr16:23364329C>A	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.519C>A	chr16.hg19:g.23364329C>A		0					SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568085.1_Silent_p.G173G	p.G173G	NM_000336.2	NP_000327.2	1	2	3	2.056757	P51168	SCNNB_HUMAN		3	695	+			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	1	1	hg19	c.519C>A	CCDS10609.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2	0	0	1		17	2	2	1		1	1	131		131	129	1	2.060000	-20.000000	1	0.170000				112	112		511	501	1		1	0		1	0	131	0		1	6.632607e-01	0	0	0	12	0	112	511
SCNN1B	6338	broad.mit.edu	37	16	23382619	23382619	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						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)			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)	CCTCCCCACAGGCCTGAAGTT	0.622																																						ENST00000343070.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.e6-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						69.0	49.0	56.0					16																	23382619		2197	4300	6497	SO:0001630	splice_region_variant	6338	0	0					g.chr16:23382619G>A	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.881-1G>A	chr16.hg19:g.23382619G>A		0					SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site		NM_000336.2	NP_000327.2	1	2	3	2.056757	P51168	SCNNB_HUMAN		6	1056	+			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	1	1	hg19		CCDS10609.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796929	0.70567	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.01	5.01	0.66863	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SCNN1B	23290120	23290120	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.235000	0.78143	2.327000	0.79052	0.655000	0.94253	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000		Intron		34	33		135	134	1		1			0	0	40	0		1	0	0	0	0	0	0	34	135
COG7	91949	broad.mit.edu	37	16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	692					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)				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)		ATCACAGTAGGTCTGCATTGT	0.577																																						ENST00000307149.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2074-2076)aCc>aTc		component of oligomeric golgi complex 7							129.0	111.0	117.0					16																	23403772		2197	4300	6497	SO:0001583	missense	91949	0	0					g.chr16:23403772G>A	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.2075C>T	chr16.hg19:g.23403772G>A	ENSP00000305442:p.Thr692Ile	0					COG7_ENST00000569635.1_Intron	p.T692I	NM_153603.3	NP_705831.1	1	2	3	2.056757	P83436	COG7_HUMAN		16	2260	-			Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	1	1	hg19	c.2075C>T	CCDS10610.1	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662772	0.67700	.	.	ENSG00000168434	ENST00000307149	T	0.42900	0.96	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.16420	T	0.52	-37.0723	18.2016	0.89840	0.0:0.0:1.0:0.0	.	692	P83436	COG7_HUMAN	I	692	ENSP00000305442:T692I	ENSP00000305442:T692I	T	-	2	0	0	COG7	23311273	23311273	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.013000	0.88655	2.534000	0.85438	0.484000	0.47621	ACC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				68	68		253	248	1		1	1		0	0	69	0		1	9.999996e-01	0	27	0	57	0	68	253
COG7	91949	broad.mit.edu	37	16	23409440	23409440	+	Missense_Mutation	SNP	G	G	A	rs16940094	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23409440G>A	ENST00000307149.5	-	14	1999	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	605			T -> M (in dbSNP:rs16940094).		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)				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)		GATGCCAGCCGTATTCCAGCT	0.532													G|||	441	0.0880591	0.1861	0.1239	5008	,	,		19099	0.0169		0.0258	False		,,,				2504	0.0675					ENST00000307149.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1813-1815)aCg>aTg		component of oligomeric golgi complex 7		G	MET/THR	681,3713	286.9+/-279.0	50,581,1566	122.0	98.0	106.0		1814	3.7	0.7	16	dbSNP_123	106	257,8343	101.4+/-162.7	4,249,4047	yes	missense	COG7	NM_153603.3	81	54,830,5613	AA,AG,GG		2.9884,15.4984,7.2187	possibly-damaging	605/771	23409440	938,12056	2197	4300	6497	SO:0001583	missense	91949	6261	121412	69				g.chr16:23409440G>A	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.1814C>T	chr16.hg19:g.23409440G>A	ENSP00000305442:p.Thr605Met	0						p.T605M	NM_153603.3	NP_705831.1	1	2	3	2.056757	P83436	COG7_HUMAN		14	1999	-			Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	1	0	hg19	c.1814C>T	CCDS10610.1	1	136	0.06227106227106227	79	0.16056910569105692	28	0.07734806629834254	11	0.019230769230769232	18	0.023746701846965697	G	13.05	2.121490	0.37436	0.154984	0.029884	ENSG00000168434	ENST00000307149	T	0.44881	0.91	5.6	3.67	0.42095	5.6	3.67	0.42095	.	0.270197	0.42682	N	0.000671	T	0.00178	0.0005	N	0.24115	0.695	0.34894	P	0.254186	D	0.57571	0.98	P	0.52109	0.69	T	0.05632	-1.0873	9	0.42905	T	0.14	-15.5303	10.0248	0.42066	0.1547:0.0:0.8453:0.0	rs16940094;rs16940094	605	P83436	COG7_HUMAN	M	605	ENSP00000305442:T605M	ENSP00000305442:T605M	T	-	2	0	0	COG7	23316941	23316941	1.000000	0.71417	0.745000	0.31077	0.194000	0.23727	5.583000	0.67484	0.747000	0.32809	-0.742000	0.03525	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-1.658989	0	0.170000				46	45		206	204	1		1	1		0	0	40	0		1	9.999965e-01	0	36	0	51	0	46	206
ABCA3	21	broad.mit.edu	37	16	2347331	2347331	+	Splice_Site	SNP	G	G	A	rs370268801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	754	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	ACCGCTCACCGTATTTCTGCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.0					ENST00000301732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2260-2262)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 3	Imatinib(DB00619)	G		0,4396		0,0,2198	63.0	51.0	55.0		2262	-12.3	0.0	16		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		754/1705	2347331	1,12995	2198	4300	6498	SO:0001630	splice_region_variant	21	5	121406	37				g.chr16:2347331G>A	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.2263+1C>T	chr16.hg19:g.2347331G>A		0					ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	p.Y754Y	NM_001089.2	NP_001080.2	1	2	3	2.056757	Q99758	ABCA3_HUMAN		17	2962	-		Ovarian(90;0.17)	B2RU09|Q54A95|Q6P5P9|Q92473	Splice_Site	SNP	ENST00000301732.5	1	0	hg19	c.2262C>T	CCDS10466.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	0		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_001089	Silent		67	65		243	241	1		1	1		0	0	47	0		1	9.999989e-01	0	35	0	41	0	67	243
ABCA3	21	broad.mit.edu	37	16	2347394	2347394	+	Silent	SNP	G	G	A	rs138901284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000301732.5	-	17	2899	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_ENST00000382381.3_Silent_p.I675I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	733	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	CCATGATGGCGATGCGGTCTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.001					ENST00000301732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2197-2199)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3	Imatinib(DB00619)	G		0,4396		0,0,2198	138.0	102.0	114.0		2199	-11.7	0.4	16	dbSNP_134	114	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	ABCA3	NM_001089.2		0,8,6490	AA,AG,GG		0.093,0.0,0.0616		733/1705	2347394	8,12988	2198	4300	6498	SO:0001819	synonymous_variant	21	42	121412	51				g.chr16:2347394G>A	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.2199C>T	chr16.hg19:g.2347394G>A		0					ABCA3_ENST00000382381.3_Silent_p.I675I	p.I733I	NM_001089.2	NP_001080.2	1	2	3	2.056757	Q99758	ABCA3_HUMAN		17	2899	-		Ovarian(90;0.17)	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	1	1	hg19	c.2199C>T	CCDS10466.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-3.352476	1	0.170000	NM_001089			108	105		461	457	1		1	1		0	0	90	0		1	9.998851e-01	0	23	0	35	0	108	461
COG7	91949	broad.mit.edu	37	16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	377					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)				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)		TACCAGAGGCACAGCACTCAT	0.572																																						ENST00000307149.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1129-1131)gTg>gCg		component of oligomeric golgi complex 7							113.0	86.0	95.0					16																	23430028		2197	4300	6497	SO:0001583	missense	91949	0	0					g.chr16:23430028A>G	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.1130T>C	chr16.hg19:g.23430028A>G	ENSP00000305442:p.Val377Ala	0						p.V377A	NM_153603.3	NP_705831.1	1	2	3	2.056757	P83436	COG7_HUMAN		8	1315	-			Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	1	1	hg19	c.1130T>C	CCDS10610.1	1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826711	0.50739	.	.	ENSG00000168434	ENST00000307149	T	0.52295	0.67	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.165224	0.53938	D	0.000059	T	0.43500	0.1250	L	0.46157	1.445	0.49798	D	0.99982	B	0.29671	0.254	B	0.32342	0.144	T	0.28106	-1.0054	10	0.22706	T	0.39	-14.745	15.1912	0.73047	1.0:0.0:0.0:0.0	.	377	P83436	COG7_HUMAN	A	377	ENSP00000305442:V377A	ENSP00000305442:V377A	V	-	2	0	0	COG7	23337529	23337529	1.000000	0.71417	0.946000	0.38457	0.299000	0.27559	9.290000	0.96065	2.185000	0.69588	0.533000	0.62120	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				39	39		152	151	1		1	1		0	0	45	0		1	9.999901e-01	0	28	0	45	0	39	152
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000301732.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										1	Substitution - Missense(1)	p.A427V(1)	large_intestine(1)	70						c.(1279-1281)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 3	Imatinib(DB00619)						103.0	86.0	92.0					16																	2358456		2198	4300	6498	SO:0001583	missense	21	1	121412	32				g.chr16:2358456G>A	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	chr16.hg19:g.2358456G>A	ENSP00000301732:p.Ala427Val	0					ABCA3_ENST00000382381.3_Intron	p.A427V	NM_001089.2	NP_001080.2	1	2	3	2.056757	Q99758	ABCA3_HUMAN		11	1980	-		Ovarian(90;0.17)	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	1	1	hg19	c.1280C>T	CCDS10466.1	1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	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	0	ABCA3	2298457	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	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001089			38	38		228	222	1		1	1		0	0	49	0		1	9.961502e-01	0	19	0	35	0	38	228
EARS2	124454	broad.mit.edu	37	16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000563459.1	-	3	380	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000449606.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	125					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGTGGCCTGGGCATACAGCTC	0.632																																						ENST00000563459.1	1.000000	0.490000	1	7.100000e-01	0.990000	0.894561	0.990000	1.000000																										0				8						c.(373-375)gCc>gTc		glutamyl-tRNA synthetase 2, mitochondrial							24.0	28.0	27.0					16																	23555946		1967	4150	6117	SO:0001583	missense	124454	0	0					g.chr16:23555946G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.374C>T	chr16.hg19:g.23555946G>A	ENSP00000456467:p.Ala125Val	0					EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000449606.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V	p.A125V			1	2	3	2.056757	Q5JPH6	SYEM_HUMAN		3	380	-			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	0	1	hg19	c.374C>T	CCDS42132.1	1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522232	0.27211	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.22539	1.95	5.66	5.66	0.87406	5.66	5.66	0.87406	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.684095	0.15332	N	0.267955	T	0.17492	0.0420	L	0.31526	0.94	0.29233	N	0.873174	P;B	0.45827	0.867;0.04	B;B	0.41860	0.368;0.166	T	0.07328	-1.0778	10	0.56958	D	0.05	-0.6922	9.9702	0.41749	0.0:0.1579:0.6978:0.1443	.	125;125	Q86YH3;Q5JPH6	.;SYEM_HUMAN	V	125	ENSP00000395196:A125V	ENSP00000343488:A125V	A	-	2	0	0	EARS2	23463447	23463447	0.000000	0.05858	0.991000	0.47740	0.096000	0.18686	0.438000	0.21559	2.673000	0.90976	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-14.070620	1	0.170000	NM_133451			9	9		107	105	1		1	1		0	0	21	0		9.943864e-01	9.392733e-01	0	12	0	49	0	9	107
PALB2	79728	broad.mit.edu	37	16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	595					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)			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)		CAGCATTCCATCCCTATGAAA	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4	1.000000	0.580000	1	7.400000e-01	0.940000	0.892771	0.940000	1.000000			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	16p12.1	79728	F, N, Mis	partner and localizer of BRCA2				"""L, O, E"""	L, O, E		Wilms tumor, medulloblastoma, AML ,breast			0				55						c.(1783-1785)gAt>gCt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							66.0	58.0	61.0					16																	23641691		2197	4300	6497	SO:0001583	missense	79728	0	0					g.chr16:23641691T>G		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.1784A>C	chr16.hg19:g.23641691T>G	ENSP00000261584:p.Asp595Ala	0						p.D595A	NM_024675.3	NP_078951.2	1	2	3	2.056757	Q86YC2	PALB2_HUMAN		5	1936	-			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	1	1	hg19	c.1784A>C	CCDS32406.1	1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024334	0.19433	.	.	ENSG00000083093	ENST00000261584	T	0.15139	2.45	5.89	3.65	0.41850	5.89	3.65	0.41850	.	1.087770	0.06976	N	0.818945	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.28011	0.085	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.2254	7.4692	0.27338	0.0:0.2393:0.0:0.7607	.	595	Q86YC2	PALB2_HUMAN	A	595	ENSP00000261584:D595A	ENSP00000261584:D595A	D	-	2	0	0	PALB2	23549192	23549192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.219000	0.32479	0.475000	0.27415	-0.250000	0.11733	GAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-7.522296	1	0.170000	NM_024675			21	21		263	259	0		1	0	1	0	0	43	337		9.999976e-01	5.935233e-01	1	1	25	25	434	21	263
PALB2	79728	broad.mit.edu	37	16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T	rs202151522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	308	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				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)			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)		TTACTTATAGCTTTATTTACA	0.353			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	16p12.1	79728	F, N, Mis	partner and localizer of BRCA2				"""L, O, E"""	L, O, E		Wilms tumor, medulloblastoma, AML ,breast			0				55						c.(922-924)Gct>Act	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							80.0	81.0	81.0					16																	23646945		2197	4300	6497	SO:0001583	missense	79728	0	0					g.chr16:23646945C>T		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.922G>A	chr16.hg19:g.23646945C>T	ENSP00000261584:p.Ala308Thr	0						p.A308T	NM_024675.3	NP_078951.2	1	2	3	2.056757	Q86YC2	PALB2_HUMAN		4	1074	-			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	1	1	hg19	c.922G>A	CCDS32406.1	1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202066	0.22121	.	.	ENSG00000083093	ENST00000261584	T	0.16457	2.34	6.07	-5.77	0.02369	6.07	-5.77	0.02369	.	1.442380	0.03986	N	0.294067	T	0.17916	0.0430	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.39292	-0.9621	10	0.48119	T	0.1	0.8454	8.884	0.35392	0.0:0.3679:0.1007:0.5314	.	308	Q86YC2	PALB2_HUMAN	T	308	ENSP00000261584:A308T	ENSP00000261584:A308T	A	-	1	0	0	PALB2	23554446	23554446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-1.030000	0.03312	-0.136000	0.14681	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_024675			107	104		496	487	1		1	1	1	0	0	133	150		1	9.926041e-01	1	11	54	26	153	107	496
PALB2	79728	broad.mit.edu	37	16	23649187	23649187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	65	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)			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)		GTTTTAGCTGCGGTGAGAGAT	0.388			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	16p12.1	79728	F, N, Mis	partner and localizer of BRCA2				"""L, O, E"""	L, O, E		Wilms tumor, medulloblastoma, AML ,breast			0				55						c.(193-195)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							174.0	164.0	168.0					16																	23649187		2197	4300	6497	SO:0001819	synonymous_variant	79728	5	121412	41				g.chr16:23649187C>T		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.195G>A	chr16.hg19:g.23649187C>T		0						p.P65P	NM_024675.3	NP_078951.2	1	2	3	2.056757	Q86YC2	PALB2_HUMAN		3	347	-			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	0	1	hg19	c.195G>A	CCDS32406.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	0		23	4	6	1		1	1	51		51	51	1	2.060000	-3.892211	1	0.170000	NM_024675			84	83		313	310	0		1	1	1	1	1	51	607		1	8.270348e-01	1	8	122	18	586	84	313
PLK1	5347	broad.mit.edu	37	16	23693421	23693421	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	253	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)			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)		CTTTTGAGACTTCTTGCCTAA	0.423																																					Colon(12;240 564 27038 33155)	ENST00000300093.4	1.000000	0.390000	1	4.900000e-01	0.630000	0.679176	0.630000	0.590000																										0				23						c.(757-759)acT>acG		polo-like kinase 1							147.0	136.0	140.0					16																	23693421		2197	4300	6497	SO:0001819	synonymous_variant	5347	0	0					g.chr16:23693421T>G		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.759T>G	chr16.hg19:g.23693421T>G		0						p.T253T	NM_005030.3	NP_005021.2	1	2	3	2.056757	P53350	PLK1_HUMAN		4	870	+			Q15153|Q99746	Silent	SNP	ENST00000300093.4	1	1	hg19	c.759T>G	CCDS10616.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-19.999100	1	0.170000	NM_005030			22	22		423	414	1		1	1		0	0	106	0		9.999985e-01	6.884918e-01	0	5	0	42	0	22	423
ERN2	10595	broad.mit.edu	37	16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000457008.2	-	16	1836	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	ERN2_ENST00000256797.4_Missense_Mutation_p.G700C					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632																																						ENST00000457008.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(1798-1800)Ggc>Tgc		endoplasmic reticulum to nucleus signaling 2							39.0	39.0	39.0					16																	23706195		2196	4300	6496	SO:0001583	missense	10595	0	0					g.chr16:23706195C>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1798G>T	chr16.hg19:g.23706195C>A	ENSP00000413812:p.Gly600Cys	0					ERN2_ENST00000256797.4_Missense_Mutation_p.G700C	p.G600C			1	2	3	2.056757				16	1836	-				Missense_Mutation	SNP	ENST00000457008.2	1	1	hg19	c.1798G>T		1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388176	0.61956	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.56941	0.43;0.43	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	600;652	E7ETG2;A5YM65	.;.	C	700;600	ENSP00000256797:G700C;ENSP00000413812:G600C	ENSP00000256797:G700C	G	-	1	0	0	ERN2	23613696	23613696	1.000000	0.71417	0.976000	0.42696	0.054000	0.15201	5.689000	0.68234	2.676000	0.91093	0.655000	0.94253	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				36	36		170	165	1		1	1		0	0	39	0		1	9.999958e-01	0	42	0	52	0	36	170
ERN2	10595	broad.mit.edu	37	16	23713497	23713497	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000457008.2	-	11	1217	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	ERN2_ENST00000256797.4_Silent_p.T441T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607																																						ENST00000457008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1177-1179)acC>acA		endoplasmic reticulum to nucleus signaling 2							67.0	72.0	71.0					16																	23713497		2197	4300	6497	SO:0001819	synonymous_variant	10595	0	0					g.chr16:23713497G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1179C>A	chr16.hg19:g.23713497G>T		0					ERN2_ENST00000256797.4_Silent_p.T441T	p.T393T			1	2	3	2.056757				11	1217	-				Silent	SNP	ENST00000457008.2	1	1	hg19	c.1179C>A		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.043150	1	0.170000				95	94		455	445	1		1	1		0	0	103	0		1	9.999832e-01	0	37	0	40	0	95	455
CHP2	63928	broad.mit.edu	37	16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A	rs190915905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527													G|||	8	0.00159744	0.0	0.0	5008	,	,		18726	0.0079		0.0	False		,,,				2504	0.0					ENST00000300113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(271-273)cGc>cAc		calcineurin-like EF-hand protein 2							85.0	82.0	83.0					16																	23767434		2197	4300	6497	SO:0001583	missense	63928	22	121412	44				g.chr16:23767434G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.272G>A	chr16.hg19:g.23767434G>A	ENSP00000300113:p.Arg91His	0						p.R91H	NM_022097.2	NP_071380.1	1	2	3	2.056757	O43745	CHP2_HUMAN		4	695	+			A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	1	1	hg19	c.272G>A	CCDS10617.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.47	3.133391	0.56828	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.48	3.51	0.40186	4.48	3.51	0.40186	EF-hand-like domain (1);	0.081158	0.48767	D	0.000165	T	0.40595	0.1123	M	0.77103	2.36	0.50171	D	0.999855	D	0.76494	0.999	P	0.57425	0.82	T	0.49293	-0.8955	10	0.48119	T	0.1	-4.8275	12.4389	0.55614	0.0:0.1709:0.8291:0.0	.	91	O43745	CHP2_HUMAN	H	91	ENSP00000300113:R91H	ENSP00000300113:R91H	R	+	2	0	0	AC130454.2	23674935	23674935	1.000000	0.71417	0.727000	0.30756	0.196000	0.23810	8.491000	0.90468	1.223000	0.43536	0.591000	0.81541	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.221883	1	0.170000	NM_022097			58	55		238	234	1		1	0		0	0	53	0		1	0	0	0	0	1	0	58	238
PRKCB	5579	broad.mit.edu	37	16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000321728.7	+	1	230	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000303531.7_Missense_Mutation_p.R19C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	19					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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706																																						ENST00000321728.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(55-57)Cgc>Tgc		protein kinase C, beta	Tamoxifen(DB00675)|Vitamin E(DB00163)						53.0	46.0	48.0					16																	23847551		2197	4300	6497	SO:0001583	missense	5579	0	0					g.chr16:23847551C>T	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.55C>T	chr16.hg19:g.23847551C>T	ENSP00000318315:p.Arg19Cys	0					PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000303531.7_Missense_Mutation_p.R19C	p.R19C	NM_212535.2	NP_997700.1	1	2	3	2.056757	P05771	KPCB_HUMAN		1	230	+			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	1	1	hg19	c.55C>T	CCDS10618.1	1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811300	0.50527	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.92851	0.7726	M	0.66939	2.045	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.79784	0.966;0.993	D	0.93132	0.6534	10	0.56958	D	0.05	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	C	19	ENSP00000318315:R19C;ENSP00000305355:R19C	ENSP00000305355:R19C	R	+	1	0	0	PRKCB	23755052	23755052	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	4.341000	0.59335	1.768000	0.52137	0.558000	0.71614	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_212535			86	86		233	231	0		1	0		0	0	52	0		1	6.036586e-01	0	0	0	7	0	86	233
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000321728.7	+	13	1618	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000303531.7_Missense_Mutation_p.K481N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453																																						ENST00000321728.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1441-1443)aaG>aaT		protein kinase C, beta	Tamoxifen(DB00675)|Vitamin E(DB00163)						205.0	178.0	187.0					16																	24192159		2197	4300	6497	SO:0001583	missense	5579	0	0					g.chr16:24192159G>T	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.1443G>T	chr16.hg19:g.24192159G>T	ENSP00000318315:p.Lys481Asn	0					PRKCB_ENST00000303531.7_Missense_Mutation_p.K481N	p.K481N	NM_212535.2	NP_997700.1	1	2	3	2.056757	P05771	KPCB_HUMAN		13	1618	+			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	1	1	hg19	c.1443G>T	CCDS10618.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489032	0.84962	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.38887	1.11;1.11	5.9	3.93	0.45458	5.9	3.93	0.45458	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	0.70254	0.3203	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76987	-0.2755	10	0.87932	D	0	.	10.5616	0.45148	0.1552:0.0:0.8448:0.0	.	481;481	P05771-2;P05771	.;KPCB_HUMAN	N	481	ENSP00000318315:K481N;ENSP00000305355:K481N	ENSP00000305355:K481N	K	+	3	2	2	PRKCB	24099660	24099660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	1.467000	0.48044	0.650000	0.86243	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	1	0	1		20	2	2	1		1	1	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_212535			118	117		511	506	1		1	0		1	0	103	0		1	8.753583e-01	0	0	0	18	0	118	511
RBBP6	5930	broad.mit.edu	37	16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	445					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)			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)		TTGCATCAGAGCACTCAAAGG	0.328																																						ENST00000319715.4	1.000000	0.270000	1	3.300000e-01	0.410000	0.509916	0.410000	0.390000																										0				46						c.(1333-1335)gaG>gaT		retinoblastoma binding protein 6							78.0	87.0	84.0					16																	24574565		2184	4290	6474	SO:0001583	missense	5930	0	0					g.chr16:24574565G>T		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.1335G>T	chr16.hg19:g.24574565G>T	ENSP00000317872:p.Glu445Asp	0					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D	p.E445D	NM_006910.4	NP_008841.2	1	2	3	2.056757	Q7Z6E9	RBBP6_HUMAN		11	1767	+			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	1	1	hg19	c.1335G>T	CCDS10621.1	0	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357741	0.41801	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14391	2.51;2.52	5.75	-1.1	0.09872	5.75	-1.1	0.09872	.	0.219325	0.31113	N	0.008225	T	0.05777	0.0151	N	0.14661	0.345	0.31755	N	0.634154	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.32851	-0.9891	10	0.19147	T	0.46	-26.9606	6.0765	0.19919	0.3838:0.0:0.4308:0.1854	.	445;445	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	D	445	ENSP00000317872:E445D;ENSP00000316291:E445D	ENSP00000317872:E445D	E	+	3	2	2	RBBP6	24482066	24482066	0.003000	0.15002	0.996000	0.52242	0.971000	0.66376	-1.903000	0.01594	-0.076000	0.12775	-0.471000	0.05019	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	0	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.261332	1	0.170000	NM_006910			28	28		822	802	0		1	0		0	0	122	0		1	2.216649e-01	0	1	0	25	0	28	822
RBBP6	5930	broad.mit.edu	37	16	24581479	24581479	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1156					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)			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)		AAAAAGGCGTAGATAAAGATT	0.338																																						ENST00000319715.4	1.000000	0.440000	1	5.500000e-01	0.700000	0.738385	0.700000	0.660000																										0				46						c.(3466-3468)gtA>gtG		retinoblastoma binding protein 6							52.0	59.0	57.0					16																	24581479		2197	4296	6493	SO:0001819	synonymous_variant	5930	1	121378	30				g.chr16:24581479A>G		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.3468A>G	chr16.hg19:g.24581479A>G		0					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	p.V1156V	NM_006910.4	NP_008841.2	1	2	3	2.056757	Q7Z6E9	RBBP6_HUMAN		17	3900	+			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	1	1	hg19	c.3468A>G	CCDS10621.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-5.752765	1	0.170000	NM_006910			22	22		375	366	1		1	1		0	0	68	0		9.999985e-01	8.992335e-01	0	9	0	61	0	22	375
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					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.A1204V(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)		TCTTTAAGTGCGCCAGCCAAA	0.368																																						ENST00000319715.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A1204V(1)	large_intestine(1)	46						c.(3610-3612)gCg>gTg		retinoblastoma binding protein 6							42.0	47.0	45.0					16																	24581622		2197	4298	6495	SO:0001583	missense	5930	2	121402	31				g.chr16:24581622C>T		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.3611C>T	chr16.hg19:g.24581622C>T	ENSP00000317872:p.Ala1204Val	0					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	p.A1204V	NM_006910.4	NP_008841.2	1	2	3	2.056757	Q7Z6E9	RBBP6_HUMAN		17	4043	+			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	1	1	hg19	c.3611C>T	CCDS10621.1	1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	0	RBBP6	24489123	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_006910			83	81		364	356	1		1	1		0	0	75	0		1	1	0	37	0	72	0	83	364
TNRC6A	27327	broad.mit.edu	37	16	24788479	24788479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788479C>A	ENST00000395799.3	+	5	518	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	130	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)			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)		cagGCCTTGCCTCGGTATCCT	0.587																																						ENST00000395799.3	1.000000	0.120000	1	1.700000e-01	0.240000	0.367321	0.240000	0.220000																										0				64						c.(388-390)cCt>cAt		trinucleotide repeat containing 6A							57.0	67.0	64.0					16																	24788479		2182	4294	6476	SO:0001583	missense	27327	0	0					g.chr16:24788479C>A	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.389C>A	chr16.hg19:g.24788479C>A	ENSP00000379144:p.Pro130His	0					TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	p.P130H	NM_014494.2	NP_055309.2	1	2	3	2.056757	Q8NDV7	TNR6A_HUMAN		5	518	+			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	0	1	hg19	c.389C>A	CCDS10624.2	0	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698489	0.88830	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.71	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.30103	0.0754	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00118	-1.2033	10	0.42905	T	0.14	-3.9194	20.3495	0.98807	0.0:1.0:0.0:0.0	.	130	Q8NDV7	TNR6A_HUMAN	H	130	ENSP00000326900:P130H;ENSP00000379144:P130H	ENSP00000326900:P130H	P	+	2	0	0	TNRC6A	24695980	24695980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.043000	0.64208	2.814000	0.96858	0.591000	0.81541	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	0	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-3.080666	1	0.170000	NM_020847			12	12		649	616	0		1	0		0	0	106	0		9.988056e-01	8.262089e-02	0	0	0	24	0	12	649
TNRC6A	27327	broad.mit.edu	37	16	24831545	24831545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24831545G>A	ENST00000395799.3	+	22	5295	c.5166G>A	c.(5164-5166)ttG>ttA	p.L1722L	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1673L|TNRC6A_ENST00000432286.2_Silent_p.L200L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1722	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)			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)		AGGTCCCTTTGCCACCTAAAA	0.517																																						ENST00000395799.3	1.000000	0.210000	1	2.800000e-01	0.360000	0.468212	0.360000	0.340000																										0				64						c.(5164-5166)ttG>ttA		trinucleotide repeat containing 6A							141.0	131.0	134.0					16																	24831545		2197	4300	6497	SO:0001819	synonymous_variant	27327	0	0					g.chr16:24831545G>A	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.5166G>A	chr16.hg19:g.24831545G>A		0					TNRC6A_ENST00000432286.2_Silent_p.L200L|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1673L	p.L1722L	NM_014494.2	NP_055309.2	1	2	3	2.056757	Q8NDV7	TNR6A_HUMAN		22	5295	+			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	1	1	hg19	c.5166G>A	CCDS10624.2	0	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225771	0.22542	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.79	3.76	0.43208	5.79	3.76	0.43208	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59402	-0.7461	4	.	.	.	-5.0009	12.1343	0.53961	0.1445:0.0:0.8555:0.0	.	.	.	.	T	613	.	.	A	+	1	0	0	TNRC6A	24739046	24739046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	0.720000	0.32209	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	0	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-2.960110	1	0.170000	NM_020847			19	20		649	640	0		1	0		0	0	120	0		9.999895e-01	6.764761e-01	0	1	0	79	0	19	649
SLC5A11	115584	broad.mit.edu	37	16	24922842	24922842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000545376.1_Silent_p.G602G	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											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)		TTATCTGGGGCTATTTTGCTT	0.438																																						ENST00000347898.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2014-2016)ggC>ggT		solute carrier family 5 (sodium/inositol cotransporter), member 11							122.0	123.0	123.0					16																	24922842		2197	4300	6497	SO:0001819	synonymous_variant	115584	0	0					g.chr16:24922842C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.2016C>T	chr16.hg19:g.24922842C>T		0					SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000424767.2_Silent_p.G637G	p.G672G	NM_052944.3	NP_443176.2	1	2	3	2.056757				16	2638	+				Silent	SNP	ENST00000347898.3	1	1	hg19	c.2016C>T	CCDS10625.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_052944			119	115		543	537	1		1			0	0	146	0		1	0	0	0	0	0	0	119	543
ARHGAP17	55114	broad.mit.edu	37	16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	877					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)			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)		GGGCAGTGCTCTCGGTATCAT	0.557																																						ENST00000289968.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2629-2631)gaG>gaT		Rho GTPase activating protein 17							211.0	202.0	205.0					16																	24931466		2197	4300	6497	SO:0001583	missense	55114	0	0					g.chr16:24931466C>A	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.2631G>T	chr16.hg19:g.24931466C>A	ENSP00000289968:p.Glu877Asp	0					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	p.E877D	NM_001006634.1	NP_001006635.1	1	2	3	2.056757	Q68EM7	RHG17_HUMAN		20	2700	-			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	1	1	hg19	c.2631G>T	CCDS32409.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295147	0.23564	.	.	ENSG00000140750	ENST00000289968;ENST00000303665	T;T	0.36520	1.49;1.25	6.08	-7.63	0.01290	6.08	-7.63	0.01290	.	0.000000	0.41396	D	0.000890	T	0.51160	0.1658	M	0.65975	2.015	0.33623	D	0.605049	D;D;D;D	0.76494	0.996;0.994;0.998;0.999	D;D;D;D	0.77557	0.987;0.97;0.99;0.987	T	0.66085	-0.6011	10	0.87932	D	0	.	17.2368	0.87001	0.0:0.6168:0.0:0.3832	.	799;877;410;710	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	877;799	ENSP00000289968:E877D;ENSP00000303130:E799D	ENSP00000289968:E877D	E	-	3	2	2	ARHGAP17	24838967	24838967	0.035000	0.19736	0.083000	0.20561	0.012000	0.07955	-1.553000	0.02174	-1.429000	0.01987	-1.631000	0.00782	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_018054			142	139		590	578	1		1	1		0	0	124	0		1	1	0	26	0	144	0	142	590
ARHGAP17	55114	broad.mit.edu	37	16	24942726	24942726	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						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)			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)		TTTTTAACAGCTGCACAAaaa	0.537																																						ENST00000289968.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.e19-1		Rho GTPase activating protein 17							25.0	32.0	30.0					16																	24942726		2171	4282	6453	SO:0001630	splice_region_variant	55114	0	0					g.chr16:24942726C>A	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.1895-1G>T	chr16.hg19:g.24942726C>A		0					ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site		NM_001006634.1	NP_001006635.1	1	2	3	2.056757	Q68EM7	RHG17_HUMAN		19	1964	-			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Splice_Site	SNP	ENST00000289968.6	1	1	hg19		CCDS32409.1	1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532339	0.27387	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6581	0.85234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ARHGAP17	24850227	24850227	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.056000	0.71111	2.518000	0.84900	0.561000	0.74099	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_018054	Intron		107	104		328	315	0		1	1		0	0	51	0		1	6.150277e-02	0	2	0	0	0	107	328
ARHGAP17	55114	broad.mit.edu	37	16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	600	Pro-rich.				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)			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)		CTGATTTTGGCCAGATGCTAT	0.567																																						ENST00000289968.6	1.000000	0.830000	1	9.900000e-01	0.990000	0.989254	0.990000	1.000000																										0				30						c.(1798-1800)gGc>gAc		Rho GTPase activating protein 17							85.0	79.0	81.0					16																	24946886		2197	4300	6497	SO:0001583	missense	55114	0	0					g.chr16:24946886C>T	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.1799G>A	chr16.hg19:g.24946886C>T	ENSP00000289968:p.Gly600Asp	0					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	p.G600D	NM_001006634.1	NP_001006635.1	1	2	3	2.056757	Q68EM7	RHG17_HUMAN		18	1868	-			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	1	1	hg19	c.1799G>A	CCDS32409.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524083	0.44866	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22945	1.93;1.96	5.3	4.32	0.51571	5.3	4.32	0.51571	.	0.158822	0.29579	N	0.011758	T	0.41026	0.1141	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.966;0.999;1.0	P;P;D;D	0.70016	0.876;0.598;0.967;0.957	T	0.19095	-1.0316	10	0.16420	T	0.52	.	10.8375	0.46696	0.1965:0.8035:0.0:0.0	.	522;600;133;433	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	600;522;600	ENSP00000289968:G600D;ENSP00000303130:G522D	ENSP00000289968:G600D	G	-	2	0	0	ARHGAP17	24854387	24854387	0.786000	0.28738	0.719000	0.30619	0.112000	0.19704	1.485000	0.35519	1.172000	0.42781	0.655000	0.94253	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-9.085290	1	0.170000	NM_018054			17	17		137	137	1		1	1		0	0	42	0		9.999747e-01	9.997501e-01	0	13	0	104	0	17	137
CCNF	899	broad.mit.edu	37	16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	438					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652																																						ENST00000397066.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1312-1314)Tcc>Ccc		cyclin F							46.0	45.0	45.0					16																	2499376		2198	4300	6498	SO:0001583	missense	899	0	0					g.chr16:2499376T>C	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1312T>C	chr16.hg19:g.2499376T>C	ENSP00000380256:p.Ser438Pro	0						p.S438P	NM_001761.2	NP_001752.2	1	2	3	2.056757	P41002	CCNF_HUMAN		12	1400	+		Ovarian(90;0.17)	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	1	1	hg19	c.1312T>C	CCDS10467.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435819	0.83885	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27720	1.65	5.43	4.31	0.51392	5.43	4.31	0.51392	Cyclin, C-terminal (1);Cyclin-like (3);	0.050440	0.85682	D	0.000000	T	0.57344	0.2047	M	0.89715	3.055	0.52501	D	0.999954	P	0.50066	0.931	P	0.61003	0.882	T	0.62978	-0.6739	10	0.87932	D	0	-28.9433	10.3694	0.44044	0.1518:0.0:0.0:0.8482	.	438	P41002	CCNF_HUMAN	P	438;353	ENSP00000380256:S438P	ENSP00000293968:S353P	S	+	1	0	0	CCNF	2439377	2439377	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.524000	0.60552	0.853000	0.35312	0.460000	0.39030	TCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001761			73	73		247	241	1		1	1		0	0	41	0		1	9.372073e-01	0	6	0	12	0	73	247
C16orf59	80178	broad.mit.edu	37	16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000361837.4	+	4	406	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000569496.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617																																						ENST00000361837.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(340-342)tCt>tAt		chromosome 16 open reading frame 59							68.0	77.0	74.0					16																	2510961		2075	4206	6281	SO:0001583	missense	80178	0	0					g.chr16:2510961C>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.341C>A	chr16.hg19:g.2510961C>A	ENSP00000355022:p.Ser114Tyr	0					C16orf59_ENST00000569496.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA	p.S114Y	NM_025108.2	NP_079384.2	1	2	3	2.056757	Q7L2K0	CP059_HUMAN		4	406	+		Ovarian(90;0.17)	B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	1	1	hg19	c.341C>A	CCDS10468.2	1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720521	0.30503	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	3.12	2.13	0.27403	3.12	2.13	0.27403	.	.	.	.	.	T	0.43366	0.1244	L	0.36672	1.1	0.18873	N	0.999989	P	0.47191	0.891	P	0.48227	0.571	T	0.23868	-1.0176	9	0.62326	D	0.03	-0.2078	8.1298	0.31020	0.0:0.7507:0.2493:0.0	.	114	Q7L2K0	CP059_HUMAN	Y	114	ENSP00000355022:S114Y	ENSP00000355022:S114Y	S	+	2	0	0	C16orf59	2450962	2450962	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.034000	0.30204	0.609000	0.30018	0.655000	0.94253	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-3.661295	1	0.170000	NM_025108			82	80		316	313	1		1	1		0	0	67	0		1	9.083088e-01	0	11	0	7	0	82	316
C16orf59	80178	broad.mit.edu	37	16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000361837.4	+	4	415	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000569496.1_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617																																						ENST00000361837.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(349-351)aCg>aTg		chromosome 16 open reading frame 59							60.0	69.0	66.0					16																	2510970		2081	4207	6288	SO:0001583	missense	80178	0	0					g.chr16:2510970C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.350C>T	chr16.hg19:g.2510970C>T	ENSP00000355022:p.Thr117Met	0					C16orf59_ENST00000569496.1_Missense_Mutation_p.T117M|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA	p.T117M	NM_025108.2	NP_079384.2	1	2	3	2.056757	Q7L2K0	CP059_HUMAN		4	415	+		Ovarian(90;0.17)	B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	1	1	hg19	c.350C>T	CCDS10468.2	1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550521	0.45383	.	.	ENSG00000162062	ENST00000361837	T	0.47528	0.84	3.97	-0.205	0.13196	3.97	-0.205	0.13196	.	0.621363	0.11903	U	0.518417	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	0.999999	P	0.37398	0.593	B	0.27715	0.082	T	0.25012	-1.0144	10	0.72032	D	0.01	-0.6322	3.1424	0.06460	0.1875:0.5022:0.0:0.3103	.	117	Q7L2K0	CP059_HUMAN	M	117	ENSP00000355022:T117M	ENSP00000355022:T117M	T	+	2	0	0	C16orf59	2450971	2450971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	0.004000	0.14682	-0.793000	0.03317	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-3.941666	1	0.170000	NM_025108			81	79		298	295	1		1	1		0	0	62	0		1	9.022265e-01	0	9	0	8	0	81	298
C16orf59	80178	broad.mit.edu	37	16	2511088	2511088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000361837.4	+	4	533	c.468G>A	c.(466-468)cgG>cgA	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000483320.1_De_novo_Start_InFrame|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.R156R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697																																						ENST00000361837.4	1.000000	0.780000	1	9.500000e-01	0.990000	0.977574	0.990000	1.000000																										0				3						c.(466-468)cgG>cgA		chromosome 16 open reading frame 59							26.0	30.0	29.0					16																	2511088		1959	4138	6097	SO:0001819	synonymous_variant	80178	0	0					g.chr16:2511088G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.468G>A	chr16.hg19:g.2511088G>A		0					C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000483320.1_De_novo_Start_InFrame|RP11-715J22.4_ENST00000566085.1_lincRNA	p.R156R	NM_025108.2	NP_079384.2	1	2	3	2.056757	Q7L2K0	CP059_HUMAN		4	533	+		Ovarian(90;0.17)	B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	1	0	hg19	c.468G>A	CCDS10468.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_025108			29	28		283	277	0		1	0		0	0	39	0		1	4.240607e-01	0	1	0	14	0	29	283
ARHGAP17	55114	broad.mit.edu	37	16	24958811	24958811	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	411	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)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			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)		ACCCTTCATTTCTGGCCCATA	0.403																																						ENST00000289968.6	1.000000	0.490000	1	6.300000e-01	0.820000	0.818825	0.820000	1.000000																										0				30						c.(1231-1233)agA>agG		Rho GTPase activating protein 17							99.0	86.0	91.0					16																	24958811		2197	4300	6497	SO:0001819	synonymous_variant	55114	0	0					g.chr16:24958811T>C	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.1233A>G	chr16.hg19:g.24958811T>C		0					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	p.R411R	NM_001006634.1	NP_001006635.1	1	2	3	2.056757	Q68EM7	RHG17_HUMAN		14	1302	-			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	1	1	hg19	c.1233A>G	CCDS32409.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.995490	1	0.170000	NM_018054			18	18		263	262	0		1	1		0	0	49	0		9.999839e-01	9.942494e-01	0	12	0	112	0	18	263
LCMT1	51451	broad.mit.edu	37	16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	99					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0										c.(295-297)Gca>Aca		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						108.0	106.0	107.0					16																	25143812		1933	4130	6063	SO:0001583	missense	51451	0	0					g.chr16:25143812G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.295G>A	chr16.hg19:g.25143812G>A	ENSP00000382021:p.Ala99Thr	0					LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	p.A99T	NM_016309.2	NP_057393.2	1	2	3	2.056757	Q9UIC8	LCMT1_HUMAN		3	450	+			A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	1	1	hg19	c.295G>A	CCDS45445.1	1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407039	0.42715	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.30448	1.53;1.53	5.51	4.54	0.55810	5.51	4.54	0.55810	.	0.121669	0.56097	D	0.000037	T	0.67126	0.2860	H	0.96175	3.78	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.81914	0.982;0.995	T	0.78339	-0.2242	10	0.87932	D	0	-16.1964	13.5204	0.61563	0.0:0.0:0.8429:0.1571	.	99;99	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	99;99;116	ENSP00000382021:A99T;ENSP00000370353:A99T	ENSP00000370349:A116T	A	+	1	0	0	LCMT1	25051313	25051313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.312000	0.45043	0.655000	0.94253	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.460978	1	0.170000	NM_016309			30	30		137	134	1		1	1		0	0	33	0		1	1	0	50	0	124	0	30	137
NTN3	4917	broad.mit.edu	37	16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	239	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657																																						ENST00000293973.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(715-717)Gtc>Atc		netrin 3							49.0	45.0	46.0					16																	2522417		2197	4297	6494	SO:0001583	missense	4917	1	121204	34				g.chr16:2522417G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.715G>A	chr16.hg19:g.2522417G>A	ENSP00000293973:p.Val239Ile	0					TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	p.V239I	NM_006181.2	NP_006172.1	1	2	3	2.056757	O00634	NET3_HUMAN		1	918	+				Missense_Mutation	SNP	ENST00000293973.1	1	1	hg19	c.715G>A	CCDS10469.1	1	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641649	0.03531	.	.	ENSG00000162068	ENST00000293973	T	0.75154	-0.91	3.94	-1.18	0.09617	3.94	-1.18	0.09617	Laminin, N-terminal (3);	1.578620	0.03511	N	0.219615	T	0.56645	0.1999	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.37606	T	0.19	.	5.5086	0.16868	0.4158:0.2571:0.3271:0.0	.	239	O00634	NET3_HUMAN	I	239	ENSP00000293973:V239I	ENSP00000293973:V239I	V	+	1	0	0	NTN3	2462418	2462418	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.177000	0.03096	-0.993000	0.03467	-4.718000	0.00003	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_006181			73	73		306	299	1		1			0	0	75	0		1	0	0	0	0	0	0	73	306
NTN3	4917	broad.mit.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697																																						ENST00000293973.1	1.000000	0.770000	1	8.700000e-01	0.990000	0.952733	0.990000	1.000000																										0				7						c.(967-969)aAc>aCc		netrin 3							43.0	52.0	49.0					16																	2522741		2158	4249	6407	SO:0001583	missense	4917	0	0					g.chr16:2522741A>C	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.968A>C	chr16.hg19:g.2522741A>C	ENSP00000293973:p.Asn323Thr	0					TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	p.N323T	NM_006181.2	NP_006172.1	1	2	3	2.056757	O00634	NET3_HUMAN		2	1171	+				Missense_Mutation	SNP	ENST00000293973.1	1	1	hg19	c.968A>C	CCDS10469.1	1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593810	0.46214	.	.	ENSG00000162068	ENST00000293973	T	0.63255	-0.03	4.52	4.52	0.55395	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.82220	-0.0565	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	T	323	ENSP00000293973:N323T	ENSP00000293973:N323T	N	+	2	0	0	NTN3	2462742	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	1	0	1		2	2	2	0		0	0	143		143	92	1	2.060000	-20.000000	1	0.170000	NM_006181			71	55		808	653	0		1			0	0	143	0		1	0	0	0	0	0	0	71	808
LCMT1	51451	broad.mit.edu	37	16	25189343	25189343	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.*280*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	0					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1003-1005)tAa>tGa		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						75.0	80.0	79.0					16																	25189343		1892	4125	6017	SO:0001819	synonymous_variant	51451	0	0					g.chr16:25189343A>G	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.1004A>G	chr16.hg19:g.25189343A>G		0					LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.*280*	p.*335*	NM_016309.2	NP_057393.2	1	2	3	2.056757	Q9UIC8	LCMT1_HUMAN		11	1159	+			A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	0	1	hg19	c.1004A>G	CCDS45445.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	1	0	0		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_016309			90	90		360	352	1		1	1		0	0	80	0		1	1	0	47	0	62	0	90	360
NTN3	4917	broad.mit.edu	37	16	2523431	2523431	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	440					axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622																																						ENST00000293973.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1318-1320)gaC>gaA		netrin 3							112.0	117.0	115.0					16																	2523431		2198	4300	6498	SO:0001630	splice_region_variant	4917	0	0					g.chr16:2523431C>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1319-1C>A	chr16.hg19:g.2523431C>A		0					TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	p.D440E	NM_006181.2	NP_006172.1	1	2	3	2.056757	O00634	NET3_HUMAN		5	1523	+				Splice_Site	SNP	ENST00000293973.1	1	0	hg19	c.1320C>A	CCDS10469.1	1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589449	0.03799	.	.	ENSG00000162068	ENST00000293973	T	0.30182	1.54	3.67	1.15	0.20763	3.67	1.15	0.20763	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.126926	0.50627	D	0.000104	T	0.13500	0.0327	N	0.19112	0.55	0.52099	D	0.999941	B	0.20780	0.048	B	0.15484	0.013	T	0.19910	-1.0291	10	0.05436	T	0.98	.	7.6096	0.28122	0.0:0.6439:0.0:0.3561	.	440	O00634	NET3_HUMAN	E	440	ENSP00000293973:D440E	ENSP00000293973:D440E	D	+	3	2	2	NTN3	2463432	2463432	0.468000	0.25839	0.953000	0.39169	0.345000	0.29048	0.001000	0.13038	0.547000	0.28938	0.306000	0.20318	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	0	0	1		17	2	2	1		1	1	180		180	177	1	2.060000	-20.000000	1	0.170000	NM_006181	Missense_Mutation		150	149		736	723	1		1	0		1	0	180	0		1	0	0	0	0	1	0	150	736
AQP8	343	broad.mit.edu	37	16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					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)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622																																						ENST00000219660.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(130-132)gGc>gAc		aquaporin 8							202.0	194.0	197.0					16																	25228637		2197	4300	6497	SO:0001583	missense	343	0	0					g.chr16:25228637G>A	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.131G>A	chr16.hg19:g.25228637G>A	ENSP00000219660:p.Gly44Asp	0					AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	p.G44D	NM_001169.2	NP_001160.2	1	2	3	2.056757	O94778	AQP8_HUMAN		2	256	+			Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	1	1	hg19	c.131G>A	CCDS10626.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850675	0.91277	.	.	ENSG00000103375	ENST00000219660	D	0.96856	-4.15	5.52	5.52	0.82312	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	-18.2355	18.0064	0.89211	0.0:0.0:1.0:0.0	.	44	O94778	AQP8_HUMAN	D	44	ENSP00000219660:G44D	ENSP00000219660:G44D	G	+	2	0	0	AQP8	25136138	25136138	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.267000	0.95665	2.595000	0.87683	0.555000	0.69702	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	0	0	1		2	2	2	0		0	0	222		222	217	1	2.060000	-20.000000	1	0.170000	NM_001169			288	283		1232	1213	1		1	0		0	0	222	0		1	8.595552e-01	0	0	0	17	0	288	1232
ZKSCAN2	342357	broad.mit.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458																																						ENST00000328086.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2716-2718)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							97.0	84.0	89.0					16																	25251325		2197	4300	6497	SO:0001583	missense	342357	0	0					g.chr16:25251325G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2716C>T	chr16.hg19:g.25251325G>A	ENSP00000331626:p.Arg906Trp	0					CTD-2547G23.2_ENST00000569456.1_RNA	p.R906W	NM_001012981.4	NP_001012999.3	1	2	3	2.056757	Q63HK3	ZKSC2_HUMAN		7	3519	-			A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	1	1	hg19	c.2716C>T	CCDS32410.1	1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	2	ZKSCAN2	25158826	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_001012981			77	77		271	263	1		1	1		0	0	59	0		1	8.958759e-01	0	7	0	9	0	77	271
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453																																						ENST00000328086.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2626-2628)Gcc>Acc		zinc finger with KRAB and SCAN domains 2		C	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	85.0	79.0	81.0		2626	4.7	1.0	16	dbSNP_134	81	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZKSCAN2	NM_001012981.4	58	0,7,6490	TT,TC,CC		0.0698,0.0228,0.0539	probably-damaging	876/968	25251415	7,12987	2197	4300	6497	SO:0001583	missense	342357	74	121412	50				g.chr16:25251415C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2626G>A	chr16.hg19:g.25251415C>T	ENSP00000331626:p.Ala876Thr	0					CTD-2547G23.2_ENST00000569456.1_RNA	p.A876T	NM_001012981.4	NP_001012999.3	1	2	3	2.056757	Q63HK3	ZKSC2_HUMAN		7	3429	-			A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	1	1	hg19	c.2626G>A	CCDS32410.1	1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	0	ZKSCAN2	25158916	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	0		2	2	2	0		0	0	66		66	62	1	2.060000	-3.028677	1	0.170000	NM_001012981			88	87		294	287	1		1	1		0	0	66	0		1	6.492684e-01	0	2	0	7	0	88	294
ZKSCAN2	342357	broad.mit.edu	37	16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A	rs544572365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	516					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17400	0.0		0.0	False		,,,				2504	0.001					ENST00000328086.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1546-1548)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							58.0	58.0	58.0					16																	25255541		2197	4300	6497	SO:0001583	missense	342357	1	121412	27				g.chr16:25255541G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1546C>T	chr16.hg19:g.25255541G>A	ENSP00000331626:p.Arg516Trp	0						p.R516W	NM_001012981.4	NP_001012999.3	1	2	3	2.056757	Q63HK3	ZKSC2_HUMAN		6	2349	-			A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	1	1	hg19	c.1546C>T	CCDS32410.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021567	0.75275	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.48836	0.8	5.48	4.53	0.55603	5.48	4.53	0.55603	SANT domain, DNA binding (1);	0.122880	0.38272	N	0.001742	T	0.42944	0.1225	L	0.53249	1.67	0.36416	D	0.864056	B;B	0.22346	0.04;0.068	B;B	0.19946	0.027;0.027	T	0.52290	-0.8595	10	0.66056	D	0.02	-6.1889	10.6188	0.45467	0.0887:0.0:0.9113:0.0	.	312;516	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	516	ENSP00000331626:R516W	ENSP00000331626:R516W	R	-	1	2	2	ZKSCAN2	25163042	25163042	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.457000	0.53007	1.456000	0.47831	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.247208	1	0.170000	NM_001012981			100	100		394	384	1		1	0		0	0	64	0		1	6.325872e-01	0	0	0	10	0	100	394
AMDHD2	51005	broad.mit.edu	37	16	2570854	2570854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000293971.6	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000302956.4_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	56					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697																																						ENST00000293971.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(166-168)cgG>cgA		amidohydrolase domain containing 2							22.0	30.0	27.0					16																	2570854		2194	4294	6488	SO:0001819	synonymous_variant	51005	0	0					g.chr16:2570854G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.168G>A	chr16.hg19:g.2570854G>A		0					AMDHD2_ENST00000413459.3_Silent_p.R56R|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000302956.4_Silent_p.R56R	p.R56R	NM_015944.3	NP_057028.2	1	2	3	2.056757	Q9Y303	NAGA_HUMAN		2	262	+			B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	1	1	hg19	c.168G>A		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	1	0	1		2	2	2	0		0	0	44		44	36	1	2.060000	-20.000000	1	0.170000	NM_015944			84	82		325	306	0		1	1		0	0	44	0		1	9.995879e-01	0	13	0	34	0	84	325
CEMP1	752014	broad.mit.edu	37	16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T	rs373411042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000567119.1	-	1	506	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T|CEMP1_ENST00000565480.1_Intron|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662																																						ENST00000567119.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(172-174)Gcg>Acg		cementum protein 1		C	,THR/ALA	0,4086		0,0,2043	38.0	46.0	44.0		,172	-2.6	0.0	16		44	1,8349		0,1,4174	no	utr-3,missense	AMDHD2,CEMP1	NM_001145815.1,NM_001048212.3	,58	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,benign	,58/248	2580903	1,12435	2043	4175	6218	SO:0001583	missense	752014	5	120934	40				g.chr16:2580903C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.172G>A	chr16.hg19:g.2580903C>T	ENSP00000457380:p.Ala58Thr	0					AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T	p.A58T	NM_001048212.3	NP_001041677.1	1	2	3	2.056757	Q6PRD7	CEMP1_HUMAN		1	506	-			B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	1	1	hg19	c.172G>A	CCDS42108.1	1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074199	0.07184	0.0	1.2E-4	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.3	-2.59	0.06209	1.3	-2.59	0.06209	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	0.87932	D	0	.	3.6591	0.08232	0.0:0.467:0.2191:0.3139	.	58	Q6PRD7	CEMP1_HUMAN	T	58	ENSP00000371787:A58T	ENSP00000371787:A58T	A	-	1	0	0	CEMP1	2520904	2520904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.467000	0.00229	-1.585000	0.01634	-1.567000	0.00876	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	0	0	1		18	5	2	1		1	1	57		57	55	1	2.060000	-3.693075	1	0.170000	NM_001048212			66	65		251	249	0		1	1		1	0	57	0		1	9.477454e-01	0	12	0	30	0	66	251
ZKSCAN2	342357	broad.mit.edu	37	16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473																																						ENST00000328086.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(931-933)gTt>gGt		zinc finger with KRAB and SCAN domains 2							131.0	118.0	123.0					16																	25258585		2197	4300	6497	SO:0001583	missense	342357	0	0					g.chr16:25258585A>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.932T>G	chr16.hg19:g.25258585A>C	ENSP00000331626:p.Val311Gly	0						p.V311G	NM_001012981.4	NP_001012999.3	1	2	3	2.056757	Q63HK3	ZKSC2_HUMAN		5	1735	-			A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	1	1	hg19	c.932T>G	CCDS32410.1	1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656243	0.14580	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.76	3.34	0.38264	5.76	3.34	0.38264	.	0.246896	0.28241	N	0.016079	T	0.10895	0.0266	L	0.38175	1.15	0.52099	D	0.999948	B;P;B	0.51791	0.0;0.948;0.001	B;P;B	0.53861	0.001;0.736;0.003	T	0.13019	-1.0525	10	0.38643	T	0.18	-10.3527	5.4928	0.16785	0.6867:0.2218:0.0915:0.0	.	107;311;311	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	311	ENSP00000331626:V311G	ENSP00000331626:V311G	V	-	2	0	0	ZKSCAN2	25166086	25166086	0.001000	0.12720	0.920000	0.36463	0.744000	0.42396	0.351000	0.20096	1.109000	0.41680	0.533000	0.62120	GTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_001012981			73	73		355	350	1		1	1		0	0	72	0		1	8.927045e-01	0	4	0	17	0	73	355
IL4R	3566	broad.mit.edu	37	16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000170630.2_Missense_Mutation_p.T439A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	439	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612																																						ENST00000395762.2	1.000000	0.310000	1	4.000000e-01	0.520000	0.589511	0.520000	0.480000																										0				33						c.(1315-1317)Acg>Gcg		interleukin 4 receptor							71.0	70.0	71.0					16																	27373988		2197	4300	6497	SO:0001583	missense	3566	0	0					g.chr16:27373988A>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1315A>G	chr16.hg19:g.27373988A>G	ENSP00000379111:p.Thr439Ala	0					IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A	p.T439A	NM_000418.3	NP_000409.1	1	2	3	2.056757	P24394	IL4RA_HUMAN		11	1574	+			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	1	1	hg19	c.1315A>G	CCDS10629.1	0	.	.	.	.	.	.	.	.	.	.	A	1.427	-0.571301	0.03882	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.2	-7.59	0.01308	5.2	-7.59	0.01308	.	9.612440	0.00166	N	0.000001	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.39502	-0.9611	10	0.08599	T	0.76	-16.6382	7.3258	0.26555	0.5114:0.3494:0.1392:0.0	.	424;439;439	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	439;439;424;439	ENSP00000379111:T439A;ENSP00000441667:T439A;ENSP00000370309:T424A;ENSP00000170630:T439A	ENSP00000170630:T439A	T	+	1	0	0	IL4R	27281489	27281489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-1.278000	0.02408	-0.408000	0.06270	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-18.875930	1	0.170000				19	19		452	443	0		1	1		0	0	74	0		9.999893e-01	9.925144e-01	0	4	0	184	0	19	452
IL21R	50615	broad.mit.edu	37	16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386). {ECO:0000269|Ref.4}.		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)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677			T	BCL6	NHL																																	ENST00000337929.3	1.000000	0.780000	1	9.300000e-01	0.990000	0.975170	0.990000	1.000000				Dom	yes			Dom	yes		16	16p11	16p11	50615	T	interleukin 21 receptor				L	L	BCL6		NHL		0				8						c.(1450-1452)gGc>gAc		interleukin 21 receptor							42.0	39.0	40.0					16																	27460438		2197	4300	6497	SO:0001583	missense	50615	0	0					g.chr16:27460438G>A	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.1451G>A	chr16.hg19:g.27460438G>A	ENSP00000338010:p.Gly484Asp	0					IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA	p.G484D	NM_181078.2	NP_851564.1	1	2	3	2.056757	Q9HBE5	IL21R_HUMAN		9	1924	+			A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	1	1	hg19	c.1451G>A	CCDS10630.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359155	0.61403	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15372	2.43;2.43;2.43	4.9	3.93	0.45458	4.9	3.93	0.45458	.	0.231408	0.37437	N	0.002082	T	0.28400	0.0702	M	0.63428	1.95	0.34257	D	0.67947	D	0.57571	0.98	P	0.53649	0.731	T	0.43940	-0.9360	10	0.49607	T	0.09	-30.5288	10.9479	0.47312	0.0:0.2238:0.7762:0.0	.	484	Q9HBE5	IL21R_HUMAN	D	484	ENSP00000338010:G484D;ENSP00000379104:G484D;ENSP00000379103:G484D	ENSP00000338010:G484D	G	+	2	0	0	IL21R	27367939	27367939	0.954000	0.32549	0.979000	0.43373	0.803000	0.45373	2.135000	0.42112	1.013000	0.39391	0.561000	0.74099	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_181078			34	32		342	337	0		1	0		0	0	61	0		1	2.010066e-01	0	0	0	9	0	34	342
GTF3C1	2975	broad.mit.edu	37	16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1976					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)			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						ACTCTCACAGTCCCTGCAGGG	0.627																																						ENST00000356183.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.991244	0.990000	1.000000																										0				80						c.(5926-5928)gAc>gGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							64.0	39.0	47.0					16																	27473805		2197	4300	6497	SO:0001583	missense	2975	0	0					g.chr16:27473805T>C	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.5927A>G	chr16.hg19:g.27473805T>C	ENSP00000348510:p.Asp1976Gly	0					GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	p.D1976G	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		36	5942	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	1	1	hg19	c.5927A>G	CCDS32414.1	1	.	.	.	.	.	.	.	.	.	.	t	5.628	0.300635	0.10678	.	.	ENSG00000077235	ENST00000356183	T	0.24723	1.84	4.38	1.54	0.23209	4.38	1.54	0.23209	.	0.378699	0.22030	N	0.065608	T	0.15176	0.0366	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.13407	0.004;0.009	T	0.23297	-1.0192	10	0.19590	T	0.45	-13.5801	1.1587	0.01801	0.1567:0.139:0.3214:0.3829	.	1976;1951	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1976	ENSP00000348510:D1976G	ENSP00000348510:D1976G	D	-	2	0	0	GTF3C1	27381306	27381306	0.957000	0.32711	0.044000	0.18714	0.126000	0.20510	0.834000	0.27518	0.062000	0.16340	-0.663000	0.03849	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_001520			17	17		133	132	1		1	1		0	0	35	0		9.999735e-01	9.996256e-01	0	23	0	84	0	17	133
GTF3C1	2975	broad.mit.edu	37	16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1518					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)			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						CGTGCAGATGGTGCTTGGAAA	0.498																																						ENST00000356183.4	1.000000	0.240000	1	2.900000e-01	0.370000	0.474190	0.370000	0.350000																										0				80						c.(4552-4554)aCc>aAc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							115.0	124.0	121.0					16																	27481690		2197	4300	6497	SO:0001583	missense	2975	0	0					g.chr16:27481690G>T	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.4553C>A	chr16.hg19:g.27481690G>T	ENSP00000348510:p.Thr1518Asn	0					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	p.T1518N	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		31	4568	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	1	1	hg19	c.4553C>A	CCDS32414.1	0	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658758	0.67586	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22945	1.93	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.120412	0.64402	D	0.000017	T	0.38108	0.1028	M	0.65975	2.015	0.31874	N	0.619404	P;D	0.53312	0.732;0.959	B;P	0.48030	0.202;0.564	T	0.42965	-0.9420	10	0.33940	T	0.23	-12.9464	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1518;1518	Q12789;Q12789-3	TF3C1_HUMAN;.	N	1518;1514	ENSP00000348510:T1518N	ENSP00000348510:T1518N	T	-	2	0	0	GTF3C1	27389191	27389191	1.000000	0.71417	0.822000	0.32727	0.979000	0.70002	6.373000	0.73128	2.618000	0.88619	0.591000	0.81541	ACC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	0	1		2	2	2	0		0	0	196		196	194	1	2.060000	-3.527369	1	0.170000	NM_001520			28	27		924	904	0		1	0		0	0	196	0		1	7.210910e-01	0	0	0	85	0	28	924
GTF3C1	2975	broad.mit.edu	37	16	27495625	27495625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27495625G>A	ENST00000356183.4	-	25	3923	c.3908C>T	c.(3907-3909)gCc>gTc	p.A1303V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1303					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)			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						TTCAAACGTGGCATGCAAAAT	0.468																																						ENST00000356183.4	1.000000	0.220000	1	3.100000e-01	0.450000	0.533573	0.450000	0.390000																										0				80						c.(3907-3909)gCc>gTc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							113.0	105.0	107.0					16																	27495625		2197	4300	6497	SO:0001583	missense	2975	0	0					g.chr16:27495625G>A	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.3908C>T	chr16.hg19:g.27495625G>A	ENSP00000348510:p.Ala1303Val	0					GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	p.A1303V	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		25	3923	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	0	1	hg19	c.3908C>T	CCDS32414.1	0	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586325	0.46110	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.91	3.88	0.44766	5.91	3.88	0.44766	.	0.545009	0.19901	N	0.103513	T	0.31544	0.0800	L	0.60455	1.87	0.09310	N	1	P;P	0.51449	0.945;0.868	P;P	0.47528	0.549;0.526	T	0.08953	-1.0697	10	0.39692	T	0.17	-3.1335	11.8013	0.52128	0.0:0.2493:0.6215:0.1292	.	1303;1303	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1303;1299	ENSP00000348510:A1303V	ENSP00000348510:A1303V	A	-	2	0	0	GTF3C1	27403126	27403126	0.735000	0.28153	0.001000	0.08648	0.577000	0.36160	4.116000	0.57871	0.777000	0.33496	-0.176000	0.13171	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-10.808540	1	0.170000	NM_001520			10	10		287	278	0		1	1		0	0	70	0		9.965090e-01	6.655275e-01	0	6	0	59	0	10	287
GTF3C1	2975	broad.mit.edu	37	16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1089					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)			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						GCGCACTTGCGCTCCAGGTTG	0.667																																						ENST00000356183.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				80						c.(3265-3267)Cgc>Tgc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							120.0	69.0	87.0					16																	27500951		2197	4300	6497	SO:0001583	missense	2975	0	0					g.chr16:27500951G>A	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.3265C>T	chr16.hg19:g.27500951G>A	ENSP00000348510:p.Arg1089Cys	0					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	p.R1089C	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		20	3280	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	0	1	hg19	c.3265C>T	CCDS32414.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552817	0.86127	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.257040	0.39475	N	0.001348	T	0.49474	0.1559	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	P;D	0.65874	0.8;0.939	T	0.52852	-0.8520	10	0.72032	D	0.01	.	16.2195	0.82251	0.0:0.0:1.0:0.0	.	1089;1089	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1089;1087	ENSP00000348510:R1089C	ENSP00000348510:R1089C	R	-	1	0	0	GTF3C1	27408452	27408452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.005000	0.57075	2.351000	0.79841	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_001520			20	20		85	84	1		1	1		0	0	12	0		9.999975e-01	9.998732e-01	0	15	0	54	0	20	85
GTF3C1	2975	broad.mit.edu	37	16	27503771	27503771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1013					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)			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						TGCGGGCCAGGTTGTAATGTG	0.522																																						ENST00000356183.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3037-3039)aaC>aaT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							66.0	73.0	71.0					16																	27503771		2197	4300	6497	SO:0001819	synonymous_variant	2975	0	0					g.chr16:27503771G>A	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.3039C>T	chr16.hg19:g.27503771G>A		0					GTF3C1_ENST00000561623.1_Silent_p.N1013N	p.N1013N	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		19	3054	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	1	1	hg19	c.3039C>T	CCDS32414.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_001520			87	84		435	433	0		1	1		0	0	90	0		1	9.999979e-01	0	7	0	88	0	87	435
GTF3C1	2975	broad.mit.edu	37	16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A	rs531481141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831					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)			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						CTGCTTTATCGTTCTCCGTTC	0.602																																						ENST00000356183.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				80						c.(2491-2493)aCg>aTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							60.0	51.0	54.0					16																	27506672		2197	4300	6497	SO:0001583	missense	2975	1	121412	37				g.chr16:27506672G>A	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.2492C>T	chr16.hg19:g.27506672G>A	ENSP00000348510:p.Thr831Met	0					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	p.T831M	NM_001520.3	NP_001511.2	1	2	3	2.056757	Q12789	TF3C1_HUMAN		15	2507	-			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	1	1	hg19	c.2492C>T	CCDS32414.1	1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142122	0.37825	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.55	-8.25	0.01025	5.55	-8.25	0.01025	.	1.765350	0.02242	N	0.065889	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.15484	0.006;0.013	T	0.24799	-1.0150	10	0.56958	D	0.05	-10.6773	0.692	0.00893	0.3206:0.1841:0.3077:0.1876	.	831;831	Q12789;Q12789-3	TF3C1_HUMAN;.	M	831;829	ENSP00000348510:T831M	ENSP00000348510:T831M	T	-	2	0	0	GTF3C1	27414173	27414173	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.124000	0.01318	-1.048000	0.03238	-0.152000	0.13540	ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1		2	2	2	0		0	0	55		55	52	1	2.060000	-3.320620	1	0.170000	NM_001520			38	38		238	236	1		1	0		0	0	55	0		1	9.892364e-01	0	0	0	47	0	38	238
KIAA0556	23247	broad.mit.edu	37	16	27642431	27642431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	ENST00000261588.4	+	5	375	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	119						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						GAAGCCTTAAGACGCAGTTCA	0.552																																						ENST00000261588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999685	0.990000	1.000000																										0				76						c.(355-357)aGa>aAa		KIAA0556							44.0	35.0	38.0					16																	27642431		2197	4299	6496	SO:0001583	missense	23247	7	120248	35				g.chr16:27642431G>A	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.356G>A	chr16.hg19:g.27642431G>A	ENSP00000261588:p.Arg119Lys	0						p.R119K	NM_015202.2	NP_056017.2	1	2	3	2.056757	O60303	K0556_HUMAN		5	375	+			A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	0	1	hg19	c.356G>A	CCDS32415.1	1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747245	0.15710	.	.	ENSG00000047578	ENST00000261588	T	0.47528	0.84	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.674959	0.13056	N	0.417256	T	0.41073	0.1143	L	0.55103	1.725	0.25739	N	0.985187	P	0.41450	0.75	B	0.36808	0.233	T	0.32693	-0.9897	10	0.09338	T	0.73	-4.875	14.9347	0.70944	0.0:0.0:1.0:0.0	.	119	O60303	K0556_HUMAN	K	119	ENSP00000261588:R119K	ENSP00000261588:R119K	R	+	2	0	0	KIAA0556	27549932	27549932	0.995000	0.38212	0.288000	0.24862	0.198000	0.23893	5.066000	0.64351	2.241000	0.73720	0.455000	0.32223	AGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.885600	1	0.170000	NM_015202			9	9		22	21	1		1	1		0	0	9	0		9.959384e-01	9.992205e-01	0	12	0	29	0	9	22
KIAA0556	23247	broad.mit.edu	37	16	27751850	27751850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	744						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						GCAGAAAAATCTGTGAGCCAC	0.572																																						ENST00000261588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2230-2232)atC>atA		KIAA0556							70.0	69.0	69.0					16																	27751850		2197	4300	6497	SO:0001819	synonymous_variant	23247	0	0					g.chr16:27751850C>A	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.2232C>A	chr16.hg19:g.27751850C>A		0						p.I744I	NM_015202.2	NP_056017.2	1	2	3	2.056757	O60303	K0556_HUMAN		15	2251	+			A7E2C2	Silent	SNP	ENST00000261588.4	1	1	hg19	c.2232C>A	CCDS32415.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_015202			141	136		481	473	1		1	1		0	0	127	0		1	9.997140e-01	0	8	0	35	0	141	481
KIAA0556	23247	broad.mit.edu	37	16	27789047	27789047	+	Silent	SNP	C	C	T	rs113619157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1556						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						TCCTCTTCACCGAGGACAGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0					ENST00000261588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(4666-4668)acC>acT		KIAA0556		C		1,4393	2.1+/-5.4	0,1,2196	111.0	92.0	98.0		4668	-1.6	1.0	16	dbSNP_132	98	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	KIAA0556	NM_015202.2		0,13,6484	TT,TC,CC		0.1395,0.0228,0.1		1556/1619	27789047	13,12981	2197	4300	6497	SO:0001819	synonymous_variant	23247	99	121412	53				g.chr16:27789047C>T	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.4668C>T	chr16.hg19:g.27789047C>T		0						p.T1556T	NM_015202.2	NP_056017.2	1	2	3	2.056757	O60303	K0556_HUMAN		26	4687	+			A7E2C2	Silent	SNP	ENST00000261588.4	1	0	hg19	c.4668C>T	CCDS32415.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-2.625994	1	0.170000	NM_015202			103	103		419	416	1		1	1		0	0	93	0		1	9.988202e-01	0	13	0	30	0	103	419
GSG1L	146395	broad.mit.edu	37	16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000447459.2	-	6	973	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	297					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)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512																																						ENST00000447459.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				17						c.(889-891)Tac>Aac		GSG1-like							80.0	63.0	69.0					16																	27818817		2196	4300	6496	SO:0001583	missense	146395	0	0					g.chr16:27818817A>T	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.889T>A	chr16.hg19:g.27818817A>T	ENSP00000394954:p.Tyr297Asn	0					GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N	p.Y297N	NM_001109763.1	NP_001103233.1	1	2	3	2.056757	Q6UXU4	GSG1L_HUMAN		6	973	-			Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	1	1	hg19	c.889T>A	CCDS45450.1	1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447450	0.25987	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.39056	1.2;1.1	3.81	2.71	0.32032	3.81	2.71	0.32032	.	0.845752	0.10437	N	0.674780	T	0.32585	0.0834	N	0.19112	0.55	0.29055	N	0.884258	P;P;P	0.50528	0.936;0.891;0.808	P;P;B	0.48227	0.534;0.571;0.212	T	0.14117	-1.0484	10	0.45353	T	0.12	.	6.0671	0.19870	0.8844:0.0:0.1156:0.0	.	246;160;297	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	297;246;160;142	ENSP00000394954:Y297N;ENSP00000379074:Y246N	ENSP00000370282:Y142N	Y	-	1	0	0	GSG1L	27726318	27726318	1.000000	0.71417	0.847000	0.33407	0.620000	0.37586	1.654000	0.37334	0.816000	0.34421	0.459000	0.35465	TAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	0		2	2	2	0		0	0	30		30	28	1	2.060000	-20.000000	1	0.170000	NM_144675			23	22		101	98	1		1			0	0	30	0		9.999996e-01	0	0	0	0	0	0	23	101
GSG1L	146395	broad.mit.edu	37	16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000447459.2	-	5	837	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	251					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)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592																																						ENST00000447459.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(751-753)aaG>aaT		GSG1-like							103.0	76.0	85.0					16																	27840187		2197	4300	6497	SO:0001583	missense	146395	0	0					g.chr16:27840187C>A	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.753G>T	chr16.hg19:g.27840187C>A	ENSP00000394954:p.Lys251Asn	0					GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N	p.K251N	NM_001109763.1	NP_001103233.1	1	2	3	2.056757	Q6UXU4	GSG1L_HUMAN		5	837	-			Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	1	1	hg19	c.753G>T	CCDS45450.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440517	0.63067	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.35421	1.31;1.31	5.24	1.57	0.23409	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.40543	1.245	0.51233	D	0.999918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.973;0.982;0.991	T	0.20107	-1.0285	10	0.42905	T	0.14	3.1709	6.2651	0.20922	0.0:0.5726:0.14:0.2874	.	200;96;251	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	251;200;96;96	ENSP00000394954:K251N;ENSP00000379074:K200N	ENSP00000370282:K96N	K	-	3	2	2	GSG1L	27747688	27747688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.093000	0.41710	0.539000	0.28788	0.650000	0.86243	AAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_144675			54	52		255	251	1		1			0	0	60	0		1	0	0	0	0	0	0	54	255
SRRM2	23524	broad.mit.edu	37	16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	539	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)			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						GTCTCCTCAGCGACCAGGCTG	0.607																																						ENST00000301740.8	1.000000	0.770000	1	9.400000e-01	0.990000	0.976351	0.990000	1.000000																										0				105						c.(1615-1617)Cga>Tga		serine/arginine repetitive matrix 2							50.0	49.0	50.0					16																	2812144		2198	4300	6498	SO:0001587	stop_gained	23524	0	0					g.chr16:2812144C>T	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.1615C>T	chr16.hg19:g.2812144C>T	ENSP00000301740:p.Arg539*	0						p.R539*	NM_016333.3	NP_057417.3	1	2	3	2.056757	Q9UQ35	SRRM2_HUMAN		11	2164	+			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	0	1	hg19	c.1615C>T	CCDS32373.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.147204	0.97324	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	.	.	.	5.91	1.33	0.21861	5.91	1.33	0.21861	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4156	13.596	0.61991	0.5421:0.4579:0.0:0.0	.	.	.	.	X	539;539;504	.	ENSP00000301740:R539X	R	+	1	2	2	SRRM2	2752145	2752145	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.373000	0.20484	0.330000	0.23485	0.655000	0.94253	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000				28	27		274	266	0		1	1		0	0	61	0		1	9.999895e-01	0	7	0	172	0	28	274
SRRM2	23524	broad.mit.edu	37	16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	580	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)			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						AACACCAGCCCGCCGGGGCAG	0.612																																						ENST00000301740.8	1.000000	0.400000	1	5.400000e-01	0.740000	0.759732	0.740000	1.000000																										0				105						c.(1738-1740)Cgc>Tgc		serine/arginine repetitive matrix 2		C	CYS/ARG	0,4396		0,0,2198	33.0	39.0	37.0		1738	-0.7	0.3	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM2	NM_016333.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	580/2753	2812267	1,12995	2198	4300	6498	SO:0001583	missense	23524	3	121408	34				g.chr16:2812267C>T	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.1738C>T	chr16.hg19:g.2812267C>T	ENSP00000301740:p.Arg580Cys	0						p.R580C	NM_016333.3	NP_057417.3	1	2	3	2.056757	Q9UQ35	SRRM2_HUMAN		11	2287	+			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	1	1	hg19	c.1738C>T	CCDS32373.1	0	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807616	0.31961	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	-0.722	0.11184	5.91	-0.722	0.11184	.	0.000000	0.56097	D	0.000033	T	0.39332	0.1074	L	0.27053	0.805	0.22171	N	0.999313	D	0.89917	1.0	D	0.80764	0.994	T	0.46048	-0.9219	10	0.87932	D	0	-8.7656	15.3162	0.74081	0.6804:0.3196:0.0:0.0	.	580	Q9UQ35	SRRM2_HUMAN	C	580;580;545	ENSP00000301740:R580C	ENSP00000301740:R580C	R	+	1	0	0	SRRM2	2752268	2752268	0.020000	0.18652	0.280000	0.24747	0.992000	0.81027	0.103000	0.15292	-0.044000	0.13491	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-3.022094	1	0.170000				13	13		215	207	0		1	1		0	0	49	0		9.994672e-01	9.900131e-01	0	8	0	122	0	13	215
SRRM2	23524	broad.mit.edu	37	16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T	rs200295693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1803	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)			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						GCGAAGACAGCGGAGCCGGTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16846	0.0		0.0	False		,,,				2504	0.0					ENST00000301740.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(5407-5409)Cgg>Tgg		serine/arginine repetitive matrix 2							39.0	46.0	44.0					16																	2815936		2198	4300	6498	SO:0001583	missense	23524	0	0					g.chr16:2815936C>T	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.5407C>T	chr16.hg19:g.2815936C>T	ENSP00000301740:p.Arg1803Trp	0						p.R1803W	NM_016333.3	NP_057417.3	1	2	3	2.056757	Q9UQ35	SRRM2_HUMAN		11	5956	+			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	1	1	hg19	c.5407C>T	CCDS32373.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.025	0.985903	0.18889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	3.3	0.37823	5.46	3.3	0.37823	.	0.000000	0.56097	D	0.000032	T	0.41419	0.1158	N	0.08118	0	0.32718	N	0.510672	D	0.89917	1.0	D	0.77557	0.99	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.0486	10.9653	0.47408	0.4254:0.5746:0.0:0.0	.	1803	Q9UQ35	SRRM2_HUMAN	W	1803;1803;1055	ENSP00000301740:R1803W	ENSP00000301740:R1803W	R	+	1	2	2	SRRM2	2755937	2755937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.904000	0.28491	0.479000	0.27511	0.650000	0.86243	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-3.315749	1	0.170000				48	47		222	217	1		1	1		0	0	38	0		1	1	0	60	0	302	0	48	222
GSG1L	146395	broad.mit.edu	37	16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000447459.2	-	4	697	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S|GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	205					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)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597																																						ENST00000447459.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				17						c.(613-615)Ggt>Agt		GSG1-like							95.0	64.0	75.0					16																	27856320		2197	4300	6497	SO:0001583	missense	146395	2	121412	32				g.chr16:27856320C>T	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.613G>A	chr16.hg19:g.27856320C>T	ENSP00000394954:p.Gly205Ser	0					GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S	p.G205S	NM_001109763.1	NP_001103233.1	1	2	3	2.056757	Q6UXU4	GSG1L_HUMAN		4	697	-			Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	1	1	hg19	c.613G>A	CCDS45450.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.699849	0.96802	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.87571	0.96;1.16;-2.27;-2.27	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.057467	0.64402	D	0.000002	D	0.93262	0.7853	M	0.76574	2.34	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	0.93950	0.7231	10	0.87932	D	0	-6.9936	17.6218	0.88084	0.0:1.0:0.0:0.0	.	154;50;205	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	S	205;154;50;50	ENSP00000394954:G205S;ENSP00000379074:G154S;ENSP00000370283:G50S;ENSP00000370282:G50S	ENSP00000370282:G50S	G	-	1	0	0	GSG1L	27763821	27763821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.496000	0.81526	2.460000	0.83146	0.655000	0.94253	GGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_144675			21	20		96	92	1		1			0	0	23	0		9.999981e-01	0	0	0	0	0	0	21	96
SRRM2	23524	broad.mit.edu	37	16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000301740.8	+	11	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2416	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607																																						ENST00000301740.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(7246-7248)caA>caC		serine/arginine repetitive matrix 2							78.0	67.0	71.0					16																	2817777		2198	4300	6498	SO:0001583	missense	23524	0	0					g.chr16:2817777A>C	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.7248A>C	chr16.hg19:g.2817777A>C	ENSP00000301740:p.Gln2416His	0					AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	p.Q2416H	NM_016333.3	NP_057417.3	1	2	3	2.056757	Q9UQ35	SRRM2_HUMAN		11	7797	+			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	1	1	hg19	c.7248A>C	CCDS32373.1	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281883	0.23392	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.91	-0.206	0.13193	5.91	-0.206	0.13193	.	0.095774	0.46442	N	0.000283	T	0.58148	0.2102	N	0.19112	0.55	0.26150	N	0.980158	B	0.06786	0.001	B	0.04013	0.001	T	0.50004	-0.8878	10	0.62326	D	0.03	-2.6915	6.4015	0.21640	0.3947:0.1244:0.4809:0.0	.	2416	Q9UQ35	SRRM2_HUMAN	H	2416;1668	ENSP00000301740:Q2416H	ENSP00000301740:Q2416H	Q	+	3	2	2	SRRM2	2757778	2757778	1.000000	0.71417	0.986000	0.45419	0.622000	0.37654	0.476000	0.22180	-0.086000	0.12550	-0.119000	0.15052	CAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000				69	65		334	321	1		1	1		0	0	83	0		1	1	0	138	0	307	0	69	334
TCEB2	6923	broad.mit.edu	37	16	2822078	2822078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000409906.4	-	4	327	c.270C>T	c.(268-270)atC>atT	p.I90I	TCEB2_ENST00000572954.1_Missense_Mutation_p.S55L|TCEB2_ENST00000262306.7_Silent_p.I90I|AC092117.2_ENST00000581119.1_RNA|TCEB2_ENST00000409477.1_Silent_p.I85I	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	90					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)	p.I90I(1)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612																																					GBM(141;5215 5962)	ENST00000409906.4	1.000000	0.510000	1	7.000000e-01	0.950000	0.879363	0.950000	1.000000																										1	Substitution - coding silent(1)	p.I90I(1)	endometrium(1)	3						c.(268-270)atC>atT		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							32.0	31.0	31.0					16																	2822078		2198	4300	6498	SO:0001819	synonymous_variant	6923	12	121402	37				g.chr16:2822078G>A	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.270C>T	chr16.hg19:g.2822078G>A		0					TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000572954.1_Missense_Mutation_p.S55L|TCEB2_ENST00000409477.1_Silent_p.I85I|AC092117.2_ENST00000581119.1_RNA	p.I90I	NM_007108.3	NP_009039.1	1	2	3	2.056757	Q15370	ELOB_HUMAN		4	327	-			B7WPD3	Silent	SNP	ENST00000409906.4	1	1	hg19	c.270C>T	CCDS45387.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	0	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-17.386590	1	0.170000	NM_007108			13	13		165	162	1		1	1		0	0	30	0		9.995486e-01	1	0	316	0	1707	0	13	165
XPO6	23214	broad.mit.edu	37	16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567																																						ENST00000304658.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(868-870)Gcg>Acg		exportin 6							67.0	72.0	71.0					16																	28167624		2004	4164	6168	SO:0001583	missense	23214	0	0					g.chr16:28167624C>T	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.868G>A	chr16.hg19:g.28167624C>T	ENSP00000302790:p.Ala290Thr	0					XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	p.A290T	NM_015171.3	NP_055986.1	1	2	3	2.056757	Q96QU8	XPO6_HUMAN		7	1368	-			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	1	1	hg19	c.868G>A	CCDS42135.1	1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471401	0.43942	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	5.87	5.87	0.94306	Armadillo-type fold (1);	0.149306	0.64402	D	0.000008	T	0.29716	0.0742	N	0.08118	0	0.46981	D	0.999273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.15066	T	0.55	-10.5702	18.0718	0.89410	0.0:1.0:0.0:0.0	.	290;290	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	290	ENSP00000302790:A290T	ENSP00000302790:A290T	A	-	1	0	0	XPO6	28075125	28075125	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.049000	0.41288	2.941000	0.99782	0.655000	0.94253	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000	XM_055195			98	97		358	348	1		1	1		0	0	92	0		1	1	0	28	0	81	0	98	358
SBK1	388228	broad.mit.edu	37	16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711																																						ENST00000341901.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				5						c.(433-435)gGg>gAg		SH3 domain binding kinase 1							5.0	7.0	7.0					16																	28331401		2107	4150	6257	SO:0001583	missense	388228	0	0					g.chr16:28331401G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.434G>A	chr16.hg19:g.28331401G>A	ENSP00000343248:p.Gly145Glu	0						p.G145E	NM_001024401.2	NP_001019572.1	1	2	3	2.056757	Q52WX2	SBK1_HUMAN		4	1223	+				Missense_Mutation	SNP	ENST00000341901.4	1	1	hg19	c.434G>A	CCDS32416.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577179	0.86645	.	.	ENSG00000188322	ENST00000341901	T	0.22336	1.96	4.17	4.17	0.49024	4.17	4.17	0.49024	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	0.46132	0.1377	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45264	-0.9273	10	0.40728	T	0.16	-27.0193	13.9542	0.64137	0.0:0.0:1.0:0.0	.	145	Q52WX2	SBK1_HUMAN	E	145	ENSP00000343248:G145E	ENSP00000343248:G145E	G	+	2	0	0	SBK1	28238902	28238902	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.561000	0.98142	1.846000	0.53633	0.561000	0.74099	GGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	XM_370948			15	15		47	46	0		1	1		0	0	12	0		9.999323e-01	6.821046e-01	0	4	0	5	0	15	47
CLN3	1201	broad.mit.edu	37	16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A	rs386833741		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	320					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617																																						ENST00000569430.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(958-960)Cgc>Tgc		ceroid-lipofuscinosis, neuronal 3							45.0	33.0	37.0					16																	28493652		2197	4300	6497	SO:0001583	missense	1201	2	121410	27				g.chr16:28493652G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.958C>T	chr16.hg19:g.28493652G>A	ENSP00000454229:p.Arg320Cys	0					CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C	p.R320C			1	2	3	2.056757	Q13286	CLN3_HUMAN		14	1777	-			B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	1	1	hg19	c.958C>T	CCDS10632.1	1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926431	0.73327	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.94138	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;-3.36	5.41	5.41	0.78517	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88640	2.97	0.49130	D	0.99975	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.997;1.0;0.998;1.0	D	0.97495	1.0056	10	0.59425	D	0.04	.	16.6881	0.85315	0.0:0.0:1.0:0.0	.	296;303;218;220;266;272;320;221	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	C	242;320;320;303;272;266;220;221;210	ENSP00000443221:R242C;ENSP00000353073:R320C;ENSP00000353116:R320C;ENSP00000346650:R303C;ENSP00000347660:R272C;ENSP00000350523:R266C;ENSP00000379014:R220C;ENSP00000350457:R221C;ENSP00000349586:R210C	ENSP00000346650:R303C	R	-	1	0	0	CLN3	28401153	28401153	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.748000	0.85085	2.547000	0.85894	0.486000	0.48141	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				31	31		121	121	1		1	1		0	0	35	0		1	1	0	66	0	182	0	31	121
CCDC101	112869	broad.mit.edu	37	16	28596992	28596992	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	59					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597																																						ENST00000317058.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(175-177)Ctg>Ttg		coiled-coil domain containing 101							121.0	87.0	98.0					16																	28596992		2197	4300	6497	SO:0001819	synonymous_variant	112869	0	0					g.chr16:28596992C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.175C>T	chr16.hg19:g.28596992C>T		0						p.L59L	NM_138414.2	NP_612423.1	1	2	3	2.056757	Q96ES7	SGF29_HUMAN		4	362	+			Q96MF5	Silent	SNP	ENST00000317058.3	1	1	hg19	c.175C>T	CCDS10635.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_138414			74	73		311	305	1		1	1		0	0	64	0		1	9.999981e-01	0	20	0	63	0	74	311
CCDC101	112869	broad.mit.edu	37	16	28602223	28602223	+	Silent	SNP	C	C	T	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	244	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642																																						ENST00000317058.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				10						c.(730-732)ttC>ttT		coiled-coil domain containing 101							49.0	44.0	46.0					16																	28602223		2197	4300	6497	SO:0001819	synonymous_variant	112869	0	0					g.chr16:28602223C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.732C>T	chr16.hg19:g.28602223C>T		0						p.F244F	NM_138414.2	NP_612423.1	1	2	3	2.056757	Q96ES7	SGF29_HUMAN		9	919	+			Q96MF5	Silent	SNP	ENST00000317058.3	1	1	hg19	c.732C>T	CCDS10635.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_138414			23	23		108	108	1		1	1		0	0	28	0		9.999997e-01	9.997933e-01	0	18	0	51	0	23	108
PRSS21	10942	broad.mit.edu	37	16	2867430	2867430	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000005995.3	+	2	106		c.e2-1		PRSS21_ENST00000455114.1_Splice_Site|PRSS21_ENST00000450020.3_Splice_Site			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)						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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741																																						ENST00000005995.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997189	0.990000	1.000000																										0				15						c.e2-1		protease, serine, 21 (testisin)							9.0	9.0	9.0					16																	2867430		1961	3915	5876	SO:0001630	splice_region_variant	10942	0	0					g.chr16:2867430G>A	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.65-1G>A	chr16.hg19:g.2867430G>A		0					PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000455114.1_Splice_Site				1	2	3	2.056757	Q9Y6M0	TEST_HUMAN		2	106	+			Q9NS34|Q9P2V6	Splice_Site	SNP	ENST00000005995.3	1	1	hg19		CCDS10478.1	1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490727	0.26686	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.33	3.33	0.38152	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8718	0.46887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PRSS21	2807431	2807431	0.006000	0.16342	0.024000	0.17045	0.013000	0.08279	0.630000	0.24553	1.800000	0.52685	0.401000	0.26515	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	1	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-19.999960	1	0.170000	NM_006799	Intron		15	15		96	95	0		1			0	0	25	0		9.999050e-01	0	0	0	0	0	0	15	96
SULT1A2	6799	broad.mit.edu	37	16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000395630.1	-	5	846	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572																																						ENST00000395630.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(496-498)Gaa>Taa		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141.0	136.0	137.0					16																	28604766		2197	4300	6497	SO:0001587	stop_gained	6799	0	0					g.chr16:28604766C>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.496G>T	chr16.hg19:g.28604766C>A	ENSP00000378992:p.Glu166*	0					SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	p.E166*	NM_177528.2	NP_803564	1	2	3	2.056757	P50226	ST1A2_HUMAN		5	846	-			A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	0	1	hg19	c.496G>T	CCDS10636.1	1	.	.	.	.	.	.	.	.	.	.	c	15.58	2.875264	0.51695	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.6	-9.2	0.00682	4.6	-9.2	0.00682	.	0.747635	0.12823	N	0.436265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4016	0.32590	0.0:0.1891:0.2499:0.561	.	.	.	.	X	166	.	ENSP00000338742:E166X	E	-	1	0	0	SULT1A2	28512267	28512267	0.002000	0.14202	0.826000	0.32828	0.145000	0.21501	-0.098000	0.11024	-1.320000	0.02283	-0.300000	0.09419	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-20.000000	1	0.170000	NM_001054			86	85		383	369	1		1	0		0	0	115	0		1	0	0	1	0	0	0	86	383
ZG16B	124220	broad.mit.edu	37	16	2880318	2880318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2880318G>T	ENST00000382280.3	+	1	149	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F	ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	24					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAGACGCCCAGTCACAGGCGA	0.652																																						ENST00000382280.3	1.000000	0.290000	1	4.700000e-01	0.730000	0.736930	0.730000	1.000000																										0				5						c.(70-72)Gtc>Ttc		zymogen granule protein 16B							38.0	48.0	45.0					16																	2880318		1955	4128	6083	SO:0001583	missense	124220	0	0					g.chr16:2880318G>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.70G>T	chr16.hg19:g.2880318G>T	ENSP00000371715:p.Val24Phe	0					ZG16B_ENST00000572863.1_5'Flank	p.V24F	NM_145252.2	NP_660295.2	1	2	3	2.056757	Q96DA0	ZG16B_HUMAN		1	149	+			A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	0	1	hg19	c.70G>T	CCDS10479.2	0	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812131	0.16537	.	.	ENSG00000162078	ENST00000382280	T	0.38887	1.11	2.93	-5.85	0.02311	2.93	-5.85	0.02311	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	P	0.42908	0.793	B	0.40134	0.32	T	0.23332	-1.0191	9	0.54805	T	0.06	.	5.8272	0.18560	0.318:0.0:0.5352:0.1467	.	24	Q96DA0	ZG16B_HUMAN	F	24	ENSP00000371715:V24F	ENSP00000371715:V24F	V	+	1	0	0	ZG16B	2820319	2820319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.451000	0.21779	-1.582000	0.01640	-0.360000	0.07572	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-9.765201	1	0.170000	NM_145252			6	6		107	106	0		1	1		0	0	23	0		9.653573e-01	9.968040e-01	0	5	0	207	0	6	107
EIF3C	8663	broad.mit.edu	37	16	28734551	28734551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577																																						ENST00000331666.6	1.000000	0.900000	1	9.700000e-01	0.990000	0.990114	0.990000	1.000000																										0				6						c.(841-843)aaG>aaA		eukaryotic translation initiation factor 3, subunit C							255.0	291.0	278.0					16																	28734551		2197	4298	6495	SO:0001819	synonymous_variant	8663	1	121412	26				g.chr16:28734551G>A	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		ENST00000331666.6:c.843G>A	chr16.hg19:g.28734551G>A		0					EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K	p.K281K			1	2	3	2.056757				9	1029	+				Silent	SNP	ENST00000331666.6	1	1	hg19	c.843G>A	CCDS10638.1	1	.	.	.	.	.	.	.	.	.	.	g	1.696	-0.502756	0.04261	.	.	ENSG00000184110	ENST00000395583	.	.	.	4.23	4.23	0.50019	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0464	0.64708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	EIF3C	28642052	28642052	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.167000	0.50793	2.356000	0.79943	0.545000	0.68477	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	1	0	0		2	2	2	0		0	0	432		432	585	1	2.060000	-20.000000	1	0.170000	NM_003752			189	183		1990	1926	0		1	1		0	0	432	0		1	9.324882e-01	0	12	0	37	0	189	1990
ATXN2L	11273	broad.mit.edu	37	16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000336783.4	+	5	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	190					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507																																						ENST00000336783.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(568-570)gTc>gGc		ataxin 2-like							247.0	202.0	217.0					16																	28837664		2197	4300	6497	SO:0001583	missense	11273	0	0					g.chr16:28837664T>G		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.569T>G	chr16.hg19:g.28837664T>G	ENSP00000338718:p.Val190Gly	0					ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G	p.V190G	NM_007245.3	NP_009176.2	1	2	3	2.056757	Q8WWM7	ATX2L_HUMAN		5	736	+			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	1	1	hg19	c.569T>G	CCDS10641.1	1	.	.	.	.	.	.	.	.	.	.	.	28.8	4.948541	0.92593	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.69;0.7;0.69	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.64260	0.2582	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.74023	0.969;0.929;0.982;0.982;0.969;0.969;0.982;0.969	T	0.66945	-0.5795	10	0.87932	D	0	-16.5268	15.0745	0.72066	0.0:0.0:0.0:1.0	.	190;190;190;190;190;190;190;190	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	G	190	ENSP00000341459:V190G;ENSP00000378917:V190G;ENSP00000338718:V190G;ENSP00000372133:V190G;ENSP00000315650:V190G	ENSP00000315650:V190G	V	+	2	0	0	ATXN2L	28745165	28745165	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.597000	0.82733	2.201000	0.70794	0.459000	0.35465	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_007245			87	85		432	422	1		1	1		0	0	113	0		1	1	0	13	0	116	0	87	432
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365					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.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612																																						ENST00000336783.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R365*(2)	large_intestine(2)	36						c.(1093-1095)Cga>Tga		ataxin 2-like							43.0	43.0	43.0					16																	28841994		2197	4300	6497	SO:0001587	stop_gained	11273	0	0					g.chr16:28841994C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1093C>T	chr16.hg19:g.28841994C>T	ENSP00000338718:p.Arg365*	0					ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*	p.R365*	NM_007245.3	NP_009176.2	1	2	3	2.056757	Q8WWM7	ATX2L_HUMAN		9	1260	+			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	0	1	hg19	c.1093C>T	CCDS10641.1	1	.	.	.	.	.	.	.	.	.	.	.	38	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	2	ATXN2L	28749495	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_007245			62	61		231	230	1		1	1		0	0	38	0		1	1	0	10	0	160	0	62	231
SH2B1	25970	broad.mit.edu	37	16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000322610.8	+	4	956	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	173	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642																																						ENST00000322610.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(517-519)Cgg>Tgg		SH2B adaptor protein 1							78.0	74.0	75.0					16																	28877932		2197	4300	6497	SO:0001583	missense	25970	2	121410	32				g.chr16:28877932C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.517C>T	chr16.hg19:g.28877932C>T	ENSP00000321221:p.Arg173Trp	0					SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W|SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron	p.R173W			1	2	3	2.056757	Q9NRF2	SH2B1_HUMAN		4	956	+			A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	1	1	hg19	c.517C>T	CCDS53996.1	1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290829	0.59976	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.60171	0.21;0.23;0.25;0.25	4.48	3.45	0.39498	4.48	3.45	0.39498	.	0.000000	0.64402	D	0.000014	T	0.57359	0.2048	N	0.19112	0.55	0.40827	D	0.98355	D;D;D	0.76494	0.986;0.999;0.99	B;D;B	0.67548	0.432;0.952;0.249	T	0.62497	-0.6842	10	0.87932	D	0	-25.0824	9.5837	0.39504	0.4051:0.5949:0.0:0.0	.	173;173;173	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	W	173	ENSP00000321221:R173W;ENSP00000352232:R173W;ENSP00000378903:R173W;ENSP00000337163:R173W	ENSP00000321221:R173W	R	+	1	2	2	SH2B1	28785433	28785433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.960000	0.29253	2.055000	0.61198	0.455000	0.32223	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	1	0	1		2	2	2	0		0	0	98		98	76	1	2.060000	-2.885172	1	0.170000	NM_015503			135	133		513	435	1		1	1		0	0	98	0		1	1	0	30	0	91	0	135	513
SH2B1	25970	broad.mit.edu	37	16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000322610.8	+	10	2301	c.1862T>G	c.(1861-1863)cTt>cGt	p.L621R	SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	621	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GATGTTGTCCTTGTCAGCTAT	0.602																																						ENST00000322610.8	1.000000	0.350000	1	4.700000e-01	0.620000	0.668893	0.620000	0.570000																										0				25						c.(1861-1863)cTt>cGt		SH2B adaptor protein 1							104.0	89.0	94.0					16																	28883991		2197	4300	6497	SO:0001583	missense	25970	0	0					g.chr16:28883991T>G	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1862T>G	chr16.hg19:g.28883991T>G	ENSP00000321221:p.Leu621Arg	0					SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R	p.L621R			1	2	3	2.056757	Q9NRF2	SH2B1_HUMAN		10	2301	+			A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	1	1	hg19	c.1862T>G	CCDS53996.1	0	.	.	.	.	.	.	.	.	.	.	t	19.48	3.835100	0.71373	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.1	5.1	0.69264	5.1	5.1	0.69264	SH2 motif (1);	0.000000	0.64402	D	0.000007	D	0.98994	0.9657	M	0.89214	3.015	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-12.0959	13.8724	0.63626	0.0:0.0:0.0:1.0	.	285;311;621;621;621	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	621;311;621;285;621;621	ENSP00000321221:L621R;ENSP00000440354:L311R;ENSP00000352232:L621R;ENSP00000438784:L285R;ENSP00000378903:L621R;ENSP00000337163:L621R	ENSP00000321221:L621R	L	+	2	0	0	SH2B1	28791492	28791492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.915000	0.55452	0.456000	0.33151	CTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-17.661250	1	0.170000	NM_015503			16	15		318	311	0		1	1		0	0	54	0		9.999249e-01	9.910322e-01	0	13	0	142	0	16	318
ATP2A1	487	broad.mit.edu	37	16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000357084.3	+	9	1232	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G322D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	322					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602																																						ENST00000357084.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(964-966)gGt>gAt		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							128.0	115.0	119.0					16																	28900144		2197	4300	6497	SO:0001583	missense	487	0	0					g.chr16:28900144G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.965G>A	chr16.hg19:g.28900144G>A	ENSP00000349595:p.Gly322Asp	0					ATP2A1_ENST00000395503.4_Missense_Mutation_p.G322D|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D	p.G322D	NM_173201.3	NP_775293.1	1	2	3	2.056757	O14983	AT2A1_HUMAN		9	1232	+			A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	1	1	hg19	c.965G>A	CCDS10643.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569331	0.86439	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.92397	-2.9;-2.9;-3.03	5.42	5.42	0.78866	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99797	1.1034	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	197;322;322	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	322;322;359;197	ENSP00000349595:G322D;ENSP00000378879:G322D;ENSP00000443101:G197D	ENSP00000349595:G322D	G	+	2	0	0	ATP2A1	28807645	28807645	1.000000	0.71417	0.958000	0.39756	0.611000	0.37282	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_004320			153	148		613	593	1		1	1		0	0	131	0		1	4.041707e-02	0	2	0	0	0	153	613
ATP2A1	487	broad.mit.edu	37	16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000357084.3	+	16	2434	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G723S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	723					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597																																						ENST00000357084.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2167-2169)Ggc>Agc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							98.0	75.0	83.0					16																	28913250		2197	4300	6497	SO:0001583	missense	487	0	0					g.chr16:28913250G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2167G>A	chr16.hg19:g.28913250G>A	ENSP00000349595:p.Gly723Ser	0					ATP2A1_ENST00000395503.4_Missense_Mutation_p.G723S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S	p.G723S	NM_173201.3	NP_775293.1	1	2	3	2.056757	O14983	AT2A1_HUMAN		16	2434	+			A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	1	1	hg19	c.2167G>A	CCDS10643.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.311291	0.95655	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048624	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97962	4.115	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.96	P;P;D	0.64042	0.796;0.835;0.921	D	0.97501	1.0060	10	0.87932	D	0	.	17.6376	0.88127	0.0:0.0:1.0:0.0	.	598;723;723	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	723;723;760;598	ENSP00000349595:G723S;ENSP00000378879:G723S;ENSP00000443101:G598S	ENSP00000349595:G723S	G	+	1	0	0	ATP2A1	28820751	28820751	1.000000	0.71417	0.922000	0.36590	0.900000	0.52787	9.761000	0.98940	2.460000	0.83146	0.561000	0.74099	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_004320			44	44		166	160	1		1	0		0	0	44	0		1	0	0	0	0	1	0	44	166
ATP2A1	487	broad.mit.edu	37	16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000357084.3	+	17	2773	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R836C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	836					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662																																						ENST00000357084.3	1.000000	0.730000	1	8.600000e-01	0.990000	0.948471	0.990000	1.000000																										0				38						c.(2506-2508)Cgc>Tgc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							42.0	49.0	46.0					16																	28913689		2197	4300	6497	SO:0001583	missense	487	1	121412	29				g.chr16:28913689C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2506C>T	chr16.hg19:g.28913689C>T	ENSP00000349595:p.Arg836Cys	0					ATP2A1_ENST00000395503.4_Missense_Mutation_p.R836C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C	p.R836C	NM_173201.3	NP_775293.1	1	2	3	2.056757	O14983	AT2A1_HUMAN		17	2773	+			A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	1	1	hg19	c.2506C>T	CCDS10643.1	1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674581	0.67928	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	4.83	3.88	0.44766	4.83	3.88	0.44766	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	12.2849	0.54788	0.0:0.9152:0.0:0.0848	.	711;836;836	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	836;836;711	ENSP00000349595:R836C;ENSP00000378879:R836C;ENSP00000443101:R711C	ENSP00000349595:R836C	R	+	1	0	0	ATP2A1	28821190	28821190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	1.250000	0.43966	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-2.966611	1	0.170000	NM_004320			45	44		508	503	0		1	0		0	0	92	0		1	0	0	0	0	1	0	45	508
RABEP2	79874	broad.mit.edu	37	16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	379					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1135-1137)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 2							136.0	139.0	138.0					16																	28920040		2051	4191	6242	SO:0001583	missense	79874	1	121006	27				g.chr16:28920040G>A	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.1135C>T	chr16.hg19:g.28920040G>A	ENSP00000350934:p.Arg379Trp	0					RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	p.R379W	NM_024816.2	NP_079092.2	1	2	3	2.056757	Q9H5N1	RABE2_HUMAN		8	1723	-				Missense_Mutation	SNP	ENST00000358201.4	1	1	hg19	c.1135C>T	CCDS42140.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500304	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.59083	0.29;0.29;0.29	4.78	2.71	0.32032	4.78	2.71	0.32032	Rabaptin, GTPase-Rab5 binding (1);	0.305929	0.25106	N	0.033084	T	0.70202	0.3197	M	0.65498	2.005	0.34244	D	0.67799	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.73380	0.907;0.85;0.98	T	0.77046	-0.2733	10	0.87932	D	0	-22.8773	9.8174	0.40860	0.0:0.0:0.6271:0.3729	.	308;347;379	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	W	379;347;308	ENSP00000350934:R379W;ENSP00000350186:R347W;ENSP00000442798:R308W	ENSP00000350186:R347W	R	-	1	2	2	RABEP2	28827541	28827541	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	2.256000	0.43231	0.384000	0.24942	0.462000	0.41574	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	1	0	1		2	2	2	0		0	0	185		185	182	1	2.060000	-20.000000	1	0.170000	NM_024816			140	136		829	817	1		1	1		0	0	185	0		1	9.988358e-01	0	14	0	46	0	140	829
CD19	930	broad.mit.edu	37	16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000324662.3	+	1	102	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S			P15391	CD19_HUMAN	CD19 molecule	20	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592																																						ENST00000324662.3	1.000000	0.740000	1	8.600000e-01	0.990000	0.950214	0.990000	1.000000																										0				29						c.(58-60)Ccc>Tcc		CD19 molecule							120.0	109.0	113.0					16																	28943379		2197	4300	6497	SO:0001583	missense	930	0	0					g.chr16:28943379C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.58C>T	chr16.hg19:g.28943379C>T	ENSP00000313419:p.Pro20Ser	0					CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S	p.P20S			1	2	3	2.056757	P15391	CD19_HUMAN		1	102	+			A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	1	1	hg19	c.58C>T	CCDS10644.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424646	0.62733	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.35789	1.29;1.29	5.24	3.16	0.36331	5.24	3.16	0.36331	Immunoglobulin-like (1);	0.131330	0.35151	N	0.003401	T	0.22975	0.0555	N	0.24115	0.695	0.28910	N	0.892784	B;B	0.26672	0.129;0.156	B;B	0.30105	0.067;0.111	T	0.13072	-1.0523	10	0.49607	T	0.09	-13.4691	6.5767	0.22571	0.0:0.7214:0.1816:0.097	.	20;20	F5H635;P15391	.;CD19_HUMAN	S	20;5;20	ENSP00000437940:P20S;ENSP00000313419:P20S	ENSP00000313419:P20S	P	+	1	0	0	CD19	28850880	28850880	0.000000	0.05858	0.856000	0.33681	0.030000	0.12068	-0.037000	0.12164	1.212000	0.43366	0.558000	0.71614	CCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.318794	1	0.170000				48	49		541	532	0		1	0		0	0	107	0		1	8.321055e-02	0	0	0	6	0	48	541
SPNS1	83985	broad.mit.edu	37	16	28995106	28995106	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		SPNS1_ENST00000565975.1_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Splice_Site|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632																																						ENST00000311008.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.e11-1		spinster homolog 1 (Drosophila)							53.0	58.0	56.0					16																	28995106		2196	4300	6496	SO:0001630	splice_region_variant	83985	0	0					g.chr16:28995106G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1321-1G>A	chr16.hg19:g.28995106G>A		0					LAT_ENST00000354453.4_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Splice_Site|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000323081.8_Splice_Site|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site		NM_032038.2	NP_114427.1	1	2	3	2.056757	Q9H2V7	SPNS1_HUMAN		11	1697	+			B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Splice_Site	SNP	ENST00000311008.11	1	1	hg19		CCDS10646.1	1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532887	0.64972	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.47	4.47	0.54385	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SPNS1	28902607	28902607	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.118000	0.71583	2.308000	0.77769	0.555000	0.69702	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_032038	Intron		100	99		511	497	1		1	1		0	0	101	0		1	3.248737e-01	0	5	0	2	0	100	511
SPNS1	83985	broad.mit.edu	37	16	28995175	28995175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	SPNS1_ENST00000565975.1_Silent_p.S508S|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Silent_p.S390S|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	463					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667																																						ENST00000311008.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1387-1389)tcG>tcA		spinster homolog 1 (Drosophila)							59.0	63.0	62.0					16																	28995175		2197	4300	6497	SO:0001819	synonymous_variant	83985	4	121408	39				g.chr16:28995175G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1389G>A	chr16.hg19:g.28995175G>A		0					LAT_ENST00000354453.4_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Silent_p.S508S|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000323081.8_Silent_p.S390S|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S	p.S463S	NM_032038.2	NP_114427.1	1	2	3	2.056757	Q9H2V7	SPNS1_HUMAN		11	1766	+			B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	1	1	hg19	c.1389G>A	CCDS10646.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	1	0	0		2	2	2	0		0	0	96		96	93	1	2.060000	-20.000000	1	0.170000	NM_032038			118	116		565	555	1		1	0		0	0	96	0		1	1	0	0	0	148	0	118	565
C16orf54	283897	broad.mit.edu	37	16	29755643	29755643	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	210						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672																																						ENST00000329410.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998474	0.990000	1.000000																										0				6						c.(628-630)atC>atT		chromosome 16 open reading frame 54							15.0	17.0	16.0					16																	29755643		2090	4165	6255	SO:0001819	synonymous_variant	283897	0	0					g.chr16:29755643G>A	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.630C>T	chr16.hg19:g.29755643G>A		0					AC009133.17_ENST00000565600.1_RNA	p.I210I	NM_175900.3	NP_787096.2	1	2	3	2.056757	Q6UWD8	CP054_HUMAN		2	725	-			A6NJR6|Q8NAB0	Silent	SNP	ENST00000329410.3	1	1	hg19	c.630C>T	CCDS10652.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_175900			20	20		132	130	0		1	0		0	0	24	0		9.999966e-01	4.951026e-01	0	0	0	12	0	20	132
KIF22	3835	broad.mit.edu	37	16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000160827.4	+	3	365	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	109	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517																																						ENST00000160827.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(325-327)Cag>Tag		kinesin family member 22							141.0	123.0	129.0					16																	29809753		2197	4300	6497	SO:0001587	stop_gained	3835	0	0					g.chr16:29809753C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.325C>T	chr16.hg19:g.29809753C>T	ENSP00000160827:p.Gln109*	0					KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR	p.Q109*	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	1	2	3	2.056757	Q14807	KIF22_HUMAN		3	365	+			B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Nonsense_Mutation	SNP	ENST00000160827.4	0	1	hg19	c.325C>T	CCDS10653.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.235056	0.98719	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.1845	0.48648	0.0:0.917:0.0:0.083	.	.	.	.	X	109;41	.	ENSP00000160827:Q109X	Q	+	1	0	0	KIF22	29717254	29717254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.819000	0.97034	0.655000	0.94253	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000				94	90		379	366	0		1	1		0	0	102	0		1	9.998192e-01	0	2	0	51	0	94	379
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000160827.4	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547																																						ENST00000160827.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(604-606)Cgg>Tgg		kinesin family member 22							92.0	99.0	97.0					16																	29810350		2197	4296	6493	SO:0001583	missense	3835	0	0					g.chr16:29810350C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.604C>T	chr16.hg19:g.29810350C>T	ENSP00000160827:p.Arg202Trp	0					KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR	p.R202W	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	1	2	3	2.056757	Q14807	KIF22_HUMAN		5	644	+			B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	1	1	hg19	c.604C>T	CCDS10653.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	2	KIF22	29717851	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	1	0	1		2	2	2	0		0	0	155		155	152	1	2.060000	-3.142704	1	0.170000				96	96		615	600	1		1	1		0	0	155	0		1	9.960689e-01	0	4	0	51	0	96	615
FLYWCH1	84256	broad.mit.edu	37	16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T	rs374956718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000253928.9	+	5	1328	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	308						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667																																						ENST00000253928.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999868	0.990000	1.000000																										0				4						c.(922-924)gCg>gTg		FLYWCH-type zinc finger 1		C	VAL/ALA,VAL/ALA	0,4200		0,0,2100	21.0	25.0	24.0		920,920	1.2	0.0	16		24	1,8409		0,1,4204	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	64,64	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	307/704,307/716	2983257	1,12609	2100	4205	6305	SO:0001583	missense	84256	1	121030	30				g.chr16:2983257C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.923C>T	chr16.hg19:g.2983257C>T	ENSP00000253928:p.Ala308Val	0					FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V	p.A308V			1	2	3	2.056757	Q4VC44	FWCH1_HUMAN		5	1328	+			D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	1	1	hg19	c.923C>T		1	.	.	.	.	.	.	.	.	.	.	C	5.962	0.361467	0.11296	0.0	1.19E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	1.16	0.20824	4.29	1.16	0.20824	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.35393	0.0930	L	0.48642	1.525	0.09310	N	1	B;D	0.61697	0.106;0.99	B;P	0.48704	0.018;0.587	T	0.16424	-1.0403	8	0.59425	D	0.04	.	7.0628	0.25135	0.0:0.6751:0.0:0.3249	.	308;307	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	V	308;308;307	.	ENSP00000253928:A308V	A	+	2	0	0	FLYWCH1	2923258	2923258	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.149000	0.10204	0.399000	0.25367	-0.258000	0.10820	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_032296			24	23		134	125	1		1	1		0	0	20	0		9.999996e-01	9.998569e-01	0	24	0	59	0	24	134
PRRT2	112476	broad.mit.edu	37	16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000358758.7	+	2	710	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PAGR1_ENST00000320330.6_5'Flank|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.D143Y|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	143	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632																																						ENST00000358758.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(427-429)Gac>Tac		proline-rich transmembrane protein 2							34.0	39.0	37.0					16																	29824802		2197	4300	6497	SO:0001583	missense	112476	0	0					g.chr16:29824802G>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.427G>T	chr16.hg19:g.29824802G>T	ENSP00000351608:p.Asp143Tyr	0					AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PRRT2_ENST00000300797.6_Missense_Mutation_p.D143Y|AC009133.14_ENST00000569981.1_RNA	p.D143Y	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	1	2	3	2.056757	Q7Z6L0	PRRT2_HUMAN		2	710	+			A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	1	1	hg19	c.427G>T	CCDS10654.1	1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221955	0.39300	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.72051	-0.62;0.25	3.97	3.97	0.46021	3.97	3.97	0.46021	.	0.778179	0.11447	N	0.563121	T	0.72415	0.3457	L	0.27053	0.805	0.34795	D	0.736158	D;D;D	0.76494	0.999;0.992;0.995	P;P;P	0.61003	0.882;0.67;0.823	T	0.76870	-0.2799	10	0.72032	D	0.01	-3.8345	11.7683	0.51943	0.0:0.0:1.0:0.0	.	143;143;143	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	143	ENSP00000351608:D143Y;ENSP00000300797:D143Y	ENSP00000300797:D143Y	D	+	1	0	0	PRRT2	29732303	29732303	0.195000	0.23338	0.993000	0.49108	0.575000	0.36095	1.338000	0.33873	2.242000	0.73789	0.563000	0.77884	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	1	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-20.000000	1	0.170000	NM_145239			78	73		228	223	1		1	0		0	0	59	0		1	2.733512e-01	0	0	0	4	0	78	228
MVP	9961	broad.mit.edu	37	16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	84					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632																																						ENST00000357402.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(250-252)Cgc>Tgc		major vault protein		C	CYS/ARG,CYS/ARG	0,4394		0,0,2197	92.0	68.0	76.0		250,250	5.5	1.0	16	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	180,180	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	84/894,84/894	29842323	2,12992	2197	4300	6497	SO:0001583	missense	9961	23	121412	45				g.chr16:29842323C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.250C>T	chr16.hg19:g.29842323C>T	ENSP00000349977:p.Arg84Cys	0					MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.R84C	p.R84C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	1	2	3	2.056757	Q14764	MVP_HUMAN		3	388	+			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	1	1	hg19	c.250C>T	CCDS10656.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181939	0.78677	0.0	2.33E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35605	1.3;1.3	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.156352	0.56097	D	0.000023	T	0.59959	0.2232	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.65142	-0.6240	10	0.87932	D	0	-20.0859	11.8372	0.52333	0.1749:0.8251:0.0:0.0	.	84	Q14764	MVP_HUMAN	C	84	ENSP00000349977:R84C;ENSP00000378760:R84C	ENSP00000349977:R84C	R	+	1	0	0	MVP	29749824	29749824	0.932000	0.31603	1.000000	0.80357	0.987000	0.75469	1.701000	0.37825	2.576000	0.86940	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.656251	1	0.170000	NM_005115			44	43		175	174	1		1	1		0	0	37	0		1	1	0	360	0	748	0	44	175
MVP	9961	broad.mit.edu	37	16	29853245	29853245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	482					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677																																						ENST00000357402.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1444-1446)ttC>ttT		major vault protein							40.0	44.0	42.0					16																	29853245		2197	4300	6497	SO:0001819	synonymous_variant	9961	17	121412	40				g.chr16:29853245C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1446C>T	chr16.hg19:g.29853245C>T		0					MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Silent_p.F482F	p.F482F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	1	2	3	2.056757	Q14764	MVP_HUMAN		10	1584	+			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	1	1	hg19	c.1446C>T	CCDS10656.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	0	0	1		19	56	2	1		1	1	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_005115			50	50		203	199	1		1	1		1	0	43	0		9.999815e-01	1	0	342	0	633	0	50	203
CDIPT	10423	broad.mit.edu	37	16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000219789.6	-	6	1504	c.626G>A	c.(625-627)cGc>cAc	p.R209H	CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	209					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667																																						ENST00000219789.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999811	0.990000	1.000000																										0				4						c.(625-627)cGc>cAc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							26.0	25.0	25.0					16																	29870526		2195	4290	6485	SO:0001583	missense	10423	0	0					g.chr16:29870526C>T	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.626G>A	chr16.hg19:g.29870526C>T	ENSP00000219789:p.Arg209His	0					CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H|CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H	p.R209H	NM_006319.3	NP_006310.1	1	2	3	2.056757	O14735	CDIPT_HUMAN		6	1504	-			B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	1	1	hg19	c.626G>A	CCDS10657.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.712574	0.96830	.	.	ENSG00000103502	ENST00000219789	T	0.51574	0.7	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.72130	-0.4383	10	0.56958	D	0.05	-5.9296	17.2093	0.86926	0.0:1.0:0.0:0.0	.	164;209;233	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	H	209	ENSP00000219789:R209H	ENSP00000219789:R209H	R	-	2	0	0	CDIPT	29778027	29778027	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	6.382000	0.73167	2.664000	0.90586	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999830	1	0.170000	NM_006319			12	12		41	40	1		1	1		0	0	13	0		9.994242e-01	1	0	143	0	408	0	12	41
CDIPT	10423	broad.mit.edu	37	16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000219789.6	-	1	904	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000561555.1_5'Flank|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	9					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						GTTGGGCACGAACAGGAAGAT	0.697																																						ENST00000219789.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(25-27)tTc>tGc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							101.0	103.0	102.0					16																	29874153		2197	4300	6497	SO:0001583	missense	10423	0	0					g.chr16:29874153A>C	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.26T>G	chr16.hg19:g.29874153A>C	ENSP00000219789:p.Phe9Cys	0					CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C|CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000561555.1_5'Flank	p.F9C	NM_006319.3	NP_006310.1	1	2	3	2.056757	O14735	CDIPT_HUMAN		1	904	-			B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	1	1	hg19	c.26T>G	CCDS10657.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512933|3.512933	0.64522|0.64522	.|.	.|.	ENSG00000103502|ENSG00000103502	ENST00000219789|ENST00000403894	T|.	0.48201|.	0.82|.	5.24|5.24	4.13|4.13	0.48395|0.48395	5.24|5.24	4.13|4.13	0.48395|0.48395	.|.	0.049082|.	0.85682|.	N|.	0.000000|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.85099|0.85099	2.735|2.735	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.997|.	T|T	0.75513|0.75513	-0.3291|-0.3291	10|6	0.87932|0.46703	D|T	0|0.11	-14.366|-14.366	10.7309|10.7309	0.46096|0.46096	0.8398:0.1602:0.0:0.0|0.8398:0.1602:0.0:0.0	.|.	9;9|.	B4DUV0;O14735|.	.;CDIPT_HUMAN|.	C|A	9|31	ENSP00000219789:F9C|.	ENSP00000219789:F9C|ENSP00000386065:S31A	F|S	-|-	2|1	0|0	0|0	CDIPT|CDIPT	29781654|29781654	29781654|29781654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	5.039000|5.039000	0.64185|0.64185	0.914000|0.914000	0.36822|0.36822	-0.466000|-0.466000	0.05196|0.05196	TTC|TCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	1	0	0		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_006319			160	157		786	776	1		1	1		0	0	175	0		1	1	0	81	0	280	0	160	786
SEZ6L2	26470	broad.mit.edu	37	16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	682	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701																																						ENST00000308713.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998391	0.990000	1.000000																										0				39						c.(2044-2046)Gac>Aac		seizure related 6 homolog (mouse)-like 2							20.0	20.0	20.0					16																	29888137		2194	4299	6493	SO:0001583	missense	26470	0	0					g.chr16:29888137C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2044G>A	chr16.hg19:g.29888137C>T	ENSP00000312550:p.Asp682Asn	0					SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N	p.D682N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	1	2	3	2.056757	Q6UXD5	SE6L2_HUMAN		12	2571	-			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	0	1	hg19	c.2044G>A	CCDS10659.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234224	0.79688	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	4.62	0.57501	5.57	4.62	0.57501	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;P	0.89917	0.027;0.101;0.385;1.0;1.0;0.487	B;B;B;D;D;B	0.91635	0.008;0.025;0.07;0.999;0.998;0.062	T	0.68804	-0.5312	10	0.44086	T	0.13	.	13.6591	0.62357	0.0:0.9238:0.0:0.0762	.	638;682;568;612;682;612	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	612;682;568;638	ENSP00000310206:D612N;ENSP00000312550:D682N;ENSP00000319215:D568N;ENSP00000439412:D638N	ENSP00000312550:D682N	D	-	1	0	0	SEZ6L2	29795638	29795638	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.658000	0.61497	1.350000	0.45770	0.655000	0.94253	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.999900	1	0.170000	NM_012410			14	14		80	78	1		1	1		0	0	18	0		9.998061e-01	1	0	167	0	196	0	14	80
SEZ6L2	26470	broad.mit.edu	37	16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	507	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0					ENST00000308713.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1519-1521)Gaa>Aaa		seizure related 6 homolog (mouse)-like 2		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	147.0	144.0	145.0		1309,1177,1309,1519	5.3	1.0	16	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	56,56,56,56	0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/841,393/810,437/854,507/911	29891239	2,12992	2197	4300	6497	SO:0001583	missense	26470	10	121412	47				g.chr16:29891239C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1519G>A	chr16.hg19:g.29891239C>T	ENSP00000312550:p.Glu507Lys	0					SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	p.E507K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	1	2	3	2.056757	Q6UXD5	SE6L2_HUMAN		9	2046	-			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	1	1	hg19	c.1519G>A	CCDS10659.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.8	5.039132	0.93630	2.28E-4	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.105878	0.41823	D	0.000808	T	0.74642	0.3743	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;P	0.63880	0.993;0.96;0.824;0.951;0.96;0.951	P;B;B;B;B;B	0.61201	0.885;0.348;0.278;0.236;0.348;0.236	T	0.72865	-0.4163	10	0.39692	T	0.17	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	463;507;393;437;507;437	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	K	437;507;393;463	ENSP00000310206:E437K;ENSP00000312550:E507K;ENSP00000319215:E393K;ENSP00000439412:E463K	ENSP00000312550:E507K	E	-	1	0	0	SEZ6L2	29798740	29798740	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.505000	0.60421	2.735000	0.93741	0.655000	0.94253	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	1	0	1		2	2	2	0		0	0	241		241	239	1	2.060000	-3.278350	1	0.170000	NM_012410			224	219		940	932	1		1	1		0	0	241	0		1	1	0	241	0	343	0	224	940
TAOK2	9344	broad.mit.edu	37	16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	15					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612																																						ENST00000308893.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(43-45)gTg>gCg		TAO kinase 2							42.0	46.0	45.0					16																	29989137		2197	4300	6497	SO:0001583	missense	9344	0	0					g.chr16:29989137T>C	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.44T>C	chr16.hg19:g.29989137T>C	ENSP00000310094:p.Val15Ala	0					TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A|TAOK2_ENST00000416441.2_5'Flank	p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	1	2	3	2.056757	Q9UL54	TAOK2_HUMAN		2	1087	+			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	1	1	hg19	c.44T>C	CCDS10663.1	1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900361	0.72754	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.49;-0.55	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.064535	0.64402	D	0.000011	T	0.66799	0.2826	L	0.34521	1.04	0.80722	D	1	P;B;B;P	0.37038	0.579;0.169;0.105;0.579	B;B;B;P	0.44811	0.361;0.241;0.121;0.461	T	0.64343	-0.6430	9	.	.	.	.	14.6093	0.68504	0.0:0.0:0.0:1.0	.	199;15;15;15	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	A	15	ENSP00000310094:V15A;ENSP00000440336:V15A;ENSP00000279394:V15A	.	V	+	2	0	0	TAOK2	29896638	29896638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.155000	0.67459	0.533000	0.62120	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_016151			73	73		305	295	1		1	1		0	0	68	0		1	9.999967e-01	0	26	0	53	0	73	305
TAOK2	9344	broad.mit.edu	37	16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	569					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCACATCCTTGGGCAGCA	0.622																																						ENST00000308893.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1705-1707)Ctt>Att		TAO kinase 2							26.0	22.0	23.0					16																	29996816		2197	4296	6493	SO:0001583	missense	9344	0	0					g.chr16:29996816C>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1705C>A	chr16.hg19:g.29996816C>A	ENSP00000310094:p.Leu569Ile	0					TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I	p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	1	2	3	2.056757	Q9UL54	TAOK2_HUMAN		14	2748	+			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	1	1	hg19	c.1705C>A	CCDS10663.1	1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418553	0.62622	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.44083	0.93;0.93;0.93	5.27	2.91	0.33838	5.27	2.91	0.33838	.	0.000000	0.64402	D	0.000002	T	0.52386	0.1731	L	0.50333	1.59	0.44547	D	0.997506	D;D;P;P;D	0.76494	0.996;0.999;0.713;0.764;0.983	P;D;P;B;P	0.68483	0.824;0.958;0.614;0.345;0.771	T	0.48801	-0.9003	9	.	.	.	.	9.9385	0.41565	0.0:0.7575:0.0:0.2425	.	760;396;569;569;569	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	569	ENSP00000310094:L569I;ENSP00000440336:L569I;ENSP00000279394:L569I	.	L	+	1	0	0	TAOK2	29904317	29904317	0.079000	0.21365	0.977000	0.42913	0.769000	0.43574	1.207000	0.32333	1.193000	0.43086	0.563000	0.77884	CTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.659681	1	0.170000	NM_016151			37	37		147	145	1		1	1		0	0	30	0		1	1	0	54	0	138	0	37	147
TAOK2	9344	broad.mit.edu	37	16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	882	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612																																						ENST00000308893.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2644-2646)Gat>Aat		TAO kinase 2							88.0	87.0	87.0					16																	29998237		2197	4300	6497	SO:0001583	missense	9344	0	0					g.chr16:29998237G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2644G>A	chr16.hg19:g.29998237G>A	ENSP00000310094:p.Asp882Asn	0					TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N	p.D882N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	1	2	3	2.056757	Q9UL54	TAOK2_HUMAN		16	3687	+			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	1	1	hg19	c.2644G>A	CCDS10663.1	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481917	0.44147	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73152	-0.67;-0.72	5.32	4.37	0.52481	5.32	4.37	0.52481	.	1.132340	0.06700	N	0.771279	T	0.51550	0.1681	N	0.08118	0	0.25522	N	0.987355	B;B;B	0.27498	0.18;0.0;0.18	B;B;B	0.21546	0.035;0.002;0.035	T	0.36578	-0.9742	9	.	.	.	.	11.0008	0.47604	0.0882:0.0:0.9118:0.0	.	1073;709;882	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	N	882;769	ENSP00000310094:D882N;ENSP00000440336:D769N	.	D	+	1	0	0	TAOK2	29905738	29905738	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	3.753000	0.55180	1.258000	0.44101	0.563000	0.77884	GAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_016151			69	68		242	237	1		1	1		0	0	53	0		1	1	0	42	0	82	0	69	242
TAOK2	9344	broad.mit.edu	37	16	29999166	29999166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000416441.2_Silent_p.P1018P|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1191					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706																																						ENST00000308893.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(3571-3573)ccC>ccT		TAO kinase 2							18.0	17.0	17.0					16																	29999166		2195	4294	6489	SO:0001819	synonymous_variant	9344	1	121096	25				g.chr16:29999166C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3573C>T	chr16.hg19:g.29999166C>T		0					TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P1018P	p.P1191P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	1	2	3	2.056757	Q9UL54	TAOK2_HUMAN		16	4616	+			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	1	1	hg19	c.3573C>T	CCDS10663.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_016151			30	30		138	135	1		1	1		0	0	33	0		1	9.998067e-01	0	18	0	47	0	30	138
HIRIP3	8479	broad.mit.edu	37	16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	527					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612																																						ENST00000279392.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1579-1581)Acc>Gcc		HIRA interacting protein 3							59.0	63.0	62.0					16																	30004620		2197	4300	6497	SO:0001583	missense	8479	0	0					g.chr16:30004620T>C	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1579A>G	chr16.hg19:g.30004620T>C	ENSP00000279392:p.Thr527Ala	0					INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR	p.T527A	NM_003609.4	NP_003600.2	1	2	3	2.056757	Q9BW71	HIRP3_HUMAN		7	2409	-			H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	1	1	hg19	c.1579A>G	CCDS10664.1	1	.	.	.	.	.	.	.	.	.	.	T	1.242	-0.621104	0.03636	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.28666	1.6	5.02	1.46	0.22682	5.02	1.46	0.22682	.	0.562321	0.17672	N	0.165940	T	0.13713	0.0332	N	0.12182	0.205	0.19945	N	0.999941	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	10	0.29301	T	0.29	-4.3486	4.1826	0.10383	0.0:0.266:0.1701:0.5639	.	527	Q9BW71	HIRP3_HUMAN	A	527;214	ENSP00000279392:T527A	ENSP00000279392:T527A	T	-	1	0	0	HIRIP3	29912121	29912121	0.985000	0.35326	0.137000	0.22149	0.015000	0.08874	0.925000	0.28791	0.058000	0.16222	-0.256000	0.11100	ACC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.873700	1	0.170000	NM_003609			73	71		272	267	1		1	1		0	0	63	0		1	1	0	24	0	73	0	73	272
INO80E	283899	broad.mit.edu	37	16	30007925	30007925	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	ENST00000563197.1	+	2	1156	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000279392.3_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000304516.7_Missense_Mutation_p.S47P	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	47					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACTGAAGGTGTCCCGGGACAA	0.597																																						ENST00000563197.1	1.000000	0.760000	1	9.900000e-01	0.990000	0.984463	0.990000	1.000000																										0				6						c.(139-141)Tcc>Ccc		INO80 complex subunit E							57.0	47.0	50.0					16																	30007925		2194	4298	6492	SO:0001583	missense	283899	0	0					g.chr16:30007925T>C	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.139T>C	chr16.hg19:g.30007925T>C	ENSP00000457016:p.Ser47Pro	0					INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000279392.3_5'Flank|INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_5'Flank	p.S47P	NM_173618.1	NP_775889.1	1	2	3	2.056757	Q8NBZ0	IN80E_HUMAN		2	1156	+			Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	0	1	hg19	c.139T>C	CCDS10665.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.394629	0.96009	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64170	1.965	0.58432	D	0.999998	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.71184	0.959;0.972;0.959	T	0.78344	-0.2240	9	0.87932	D	0	-17.7738	13.6838	0.62504	0.0:0.0:0.0:1.0	.	71;47;47	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	P	47;71;47	.	ENSP00000303977:S47P	S	+	1	0	0	INO80E	29915426	29915426	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.974000	0.70465	2.125000	0.65367	0.533000	0.62120	TCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.952980	1	0.170000	NM_173618			7	7		45	44	1		1	1		0	0	9	0		9.819346e-01	9.999998e-01	0	118	0	276	0	7	45
DOC2A	8448	broad.mit.edu	37	16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	62	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706																																						ENST00000350119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(184-186)Gcc>Acc		double C2-like domains, alpha							16.0	18.0	17.0					16																	30021360		2171	4232	6403	SO:0001583	missense	8448	0	0					g.chr16:30021360C>T	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.184G>A	chr16.hg19:g.30021360C>T	ENSP00000340017:p.Ala62Thr	0					DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T	p.A62T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	1	2	3	2.056757	Q14183	DOC2A_HUMAN		2	374	-			B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	1	1	hg19	c.184G>A	CCDS10666.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592566	0.46214	.	.	ENSG00000149927	ENST00000350119	T	0.62364	0.03	4.23	3.2	0.36748	4.23	3.2	0.36748	.	0.200290	0.24791	N	0.035562	T	0.36663	0.0975	N	0.14661	0.345	0.28953	N	0.890294	B	0.06786	0.001	B	0.04013	0.001	T	0.13548	-1.0505	10	0.13108	T	0.6	.	6.3465	0.21353	0.2189:0.5965:0.1846:0.0	.	62	Q14183	DOC2A_HUMAN	T	62	ENSP00000340017:A62T	ENSP00000340017:A62T	A	-	1	0	0	DOC2A	29928861	29928861	0.148000	0.22702	1.000000	0.80357	0.985000	0.73830	0.291000	0.18994	2.203000	0.70933	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000	NM_003586			63	61		266	264	0		1			0	0	47	0		1	0	0	0	0	0	0	63	266
PPP4C	5531	broad.mit.edu	37	16	30094745	30094745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	112					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607																																						ENST00000279387.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(334-336)Cgg>Agg		protein phosphatase 4, catalytic subunit							98.0	94.0	96.0					16																	30094745		2197	4300	6497	SO:0001819	synonymous_variant	5531	0	0					g.chr16:30094745C>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.334C>A	chr16.hg19:g.30094745C>A		0					PPP4C_ENST00000561610.1_Silent_p.R112R	p.R112R	NM_002720.1	NP_002711.1	1	2	3	2.056757	P60510	PP4C_HUMAN		6	502	+			P33172	Silent	SNP	ENST00000279387.7	1	1	hg19	c.334C>A	CCDS10669.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-3.018514	1	0.170000	NM_002720			82	79		462	451	0		1	1		0	0	106	0		1	1	0	11	0	346	0	82	462
TBX6	6911	broad.mit.edu	37	16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000395224.2	-	4	570	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000553607.1_Missense_Mutation_p.R171C|TBX6_ENST00000279386.2_Missense_Mutation_p.R171C	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	171					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632																																						ENST00000395224.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(511-513)Cgt>Tgt		T-box 6							60.0	62.0	61.0					16																	30100374		2197	4300	6497	SO:0001583	missense	6911	2	121404	32				g.chr16:30100374G>A	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.511C>T	chr16.hg19:g.30100374G>A	ENSP00000378650:p.Arg171Cys	0					TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000553607.1_Missense_Mutation_p.R171C	p.R171C	NM_004608.3	NP_004599.2	1	2	3	2.056757	O95947	TBX6_HUMAN		4	570	-			Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	1	1	hg19	c.511C>T	CCDS10670.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092673	0.76756	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90732	-2.72;-2.72;-2.72	5.8	5.8	0.92144	5.8	5.8	0.92144	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.76938	2.355	0.80722	D	1	D;D	0.64830	0.994;0.973	P;B	0.55222	0.771;0.414	D	0.94483	0.7695	10	0.87932	D	0	.	18.8306	0.92137	0.0:0.0:1.0:0.0	.	171;171	O95947;Q9HA44	TBX6_HUMAN;.	C	171	ENSP00000378650:R171C;ENSP00000279386:R171C;ENSP00000461223:R171C	ENSP00000279386:R171C	R	-	1	0	0	TBX6	30007875	30007875	1.000000	0.71417	0.987000	0.45799	0.596000	0.36781	6.172000	0.71932	2.747000	0.94245	0.462000	0.41574	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	0	0	1		20	2	2	1		1	1	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_004608, NM_080758			122	118		565	557	1		1	1		1	0	111	0		1	6.569873e-01	0	11	0	1	0	122	565
PAQR4	124222	broad.mit.edu	37	16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A	rs377539451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000318782.8	+	3	1098	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	223						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R223L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672																																						ENST00000318782.8	1.000000	0.710000	1	8.700000e-01	0.990000	0.953939	0.990000	1.000000																										1	Substitution - Missense(1)	p.R223L(1)	lung(1)	8						c.(667-669)cGt>cAt		progestin and adipoQ receptor family member IV		G	HIS/ARG	0,4396		0,0,2198	47.0	50.0	49.0		668	4.8	1.0	16		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	223/274	3021795	1,12995	2198	4300	6498	SO:0001583	missense	124222	14	121342	42				g.chr16:3021795G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.668G>A	chr16.hg19:g.3021795G>A	ENSP00000321804:p.Arg223His	0					PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000571102.1_5'Flank	p.R223H	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	1	2	3	2.056757	Q8N4S7	PAQR4_HUMAN		3	1098	+			A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	1	1	hg19	c.668G>A	CCDS10485.1	1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583961	0.65992	0.0	1.16E-4	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.33865	1.39	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.063428	0.64402	D	0.000004	T	0.56673	0.2001	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.973;0.929;0.982	T	0.58864	-0.7561	10	0.54805	T	0.06	-29.6577	15.3988	0.74818	0.0:0.0:1.0:0.0	.	148;184;223	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	H	223;149	ENSP00000321804:R223H	ENSP00000293978:R149H	R	+	2	0	0	PAQR4	2961796	2961796	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.200000	0.77838	2.220000	0.72140	0.457000	0.33378	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-3.318794	1	0.170000	NM_152341			30	30		325	321	1		1	1		0	0	65	0		1	9.952491e-01	0	15	0	77	0	30	325
PAQR4	124222	broad.mit.edu	37	16	3021850	3021850	+	Silent	SNP	G	G	A	rs576724634		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000318782.8	+	3	1153	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PAQR4_ENST00000576565.1_Silent_p.Q174Q|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000574988.1_Silent_p.Q174Q|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	241						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677																																						ENST00000318782.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(721-723)caG>caA		progestin and adipoQ receptor family member IV							40.0	43.0	42.0					16																	3021850		2197	4300	6497	SO:0001819	synonymous_variant	124222	0	0					g.chr16:3021850G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.723G>A	chr16.hg19:g.3021850G>A		0					PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PAQR4_ENST00000574988.1_Silent_p.Q174Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PKMYT1_ENST00000571102.1_5'Flank	p.Q241Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	1	2	3	2.056757	Q8N4S7	PAQR4_HUMAN		3	1153	+			A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	1	1	hg19	c.723G>A	CCDS10485.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_152341			59	53		233	229	1		1	1		0	0	66	0		1	9.999977e-01	0	34	0	45	0	59	233
PKMYT1	9088	broad.mit.edu	37	16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000262300.8	-	9	2004	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	499	Interaction with CDC2-CCNB1.|Interaction with PIN1.				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)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCTCAGGTTGGGTCTAG	0.577																																						ENST00000262300.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				10						c.(1495-1497)aCc>aTc		protein kinase, membrane associated tyrosine/threonine 1							56.0	53.0	54.0					16																	3022958		2195	4296	6491	SO:0001583	missense	9088	0	0					g.chr16:3022958G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1496C>T	chr16.hg19:g.3022958G>A	ENSP00000262300:p.Thr499Ile	0					PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	p.T499I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	1	2	3	2.056757	Q99640	PMYT1_HUMAN		9	2004	-			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	0	1	hg19	c.1496C>T	CCDS10486.1	1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051002	0.19827	.	.	ENSG00000127564	ENST00000262300;ENST00000402679	T	0.58940	0.3	5.34	0.64	0.17752	5.34	0.64	0.17752	.	0.858383	0.10244	N	0.698096	T	0.32882	0.0844	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.015;0.015	T	0.14868	-1.0457	10	0.66056	D	0.02	.	4.123	0.10114	0.0873:0.2402:0.5013:0.1713	.	430;499	B4DXD4;Q99640	.;PMYT1_HUMAN	I	499	ENSP00000262300:T499I	ENSP00000262300:T499I	T	-	2	0	0	PKMYT1	2962959	2962959	0.030000	0.19436	0.761000	0.31378	0.963000	0.63663	0.014000	0.13333	0.230000	0.21059	0.561000	0.74099	ACC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_004203			19	16		82	82	1		1	1		0	0	11	0		9.999939e-01	1	0	74	0	127	0	19	82
PKMYT1	9088	broad.mit.edu	37	16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000262300.8	-	3	776	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	90					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)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667																																						ENST00000262300.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(268-270)Gag>Tag		protein kinase, membrane associated tyrosine/threonine 1							11.0	11.0	11.0					16																	3026775		2184	4297	6481	SO:0001587	stop_gained	9088	0	0					g.chr16:3026775C>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.268G>T	chr16.hg19:g.3026775C>A	ENSP00000262300:p.Glu90*	0					PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	p.E90*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	1	2	3	2.056757	Q99640	PMYT1_HUMAN		3	776	-			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000262300.8	0	1	hg19	c.268G>T	CCDS10486.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119419	0.77323	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.78	4.83	0.62350	5.78	4.83	0.62350	.	0.598474	0.18049	N	0.153369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.655	12.6587	0.56801	0.0:0.92:0.0:0.08	.	.	.	.	X	90;90;90;90;81	.	ENSP00000262300:E90X	E	-	1	0	0	PKMYT1	2966776	2966776	0.035000	0.19736	0.176000	0.23000	0.070000	0.16714	1.081000	0.30791	1.436000	0.47453	-0.140000	0.14226	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_004203			23	23		54	52	1		1	1		0	0	17	0		9.999998e-01	9.727521e-01	0	2	0	15	0	23	54
GDPD3	79153	broad.mit.edu	37	16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D	RP11-455F5.3_ENST00000515455.2_RNA|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	314					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532																																						ENST00000406256.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(940-942)gCt>gAt		glycerophosphodiester phosphodiesterase domain containing 3							81.0	82.0	82.0					16																	30116209		2197	4300	6497	SO:0001583	missense	79153	0	0					g.chr16:30116209G>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.941C>A	chr16.hg19:g.30116209G>T	ENSP00000384363:p.Ala314Asp	0					RP11-455F5.3_ENST00000515455.2_RNA|RP11-455F5.4_ENST00000566190.1_RNA	p.A314D	NM_024307.2	NP_077283.2	1	2	3	2.056757	Q7L5L3	GDPD3_HUMAN		10	1318	-			Q9H652	Missense_Mutation	SNP	ENST00000406256.3	1	1	hg19	c.941C>A	CCDS10671.2	1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487391	0.26686	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	4.13	-0.602	0.11634	4.13	-0.602	0.11634	.	1.727610	0.04224	N	0.334052	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	9	0.12430	T	0.62	.	3.0282	0.06098	0.1015:0.3404:0.395:0.1631	.	314	Q7L5L3	GDPD3_HUMAN	D	314;252	.	ENSP00000353909:A252D	A	-	2	0	0	GDPD3	30023710	30023710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-0.142000	0.11354	0.561000	0.74099	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_024307			61	61		251	247	1		1	1		0	0	58	0		1	9.982227e-01	0	22	0	20	0	61	251
TBC1D10B	26000	broad.mit.edu	37	16	30370680	30370680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	ENST00000409939.3	-	7	1535	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	485	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCTGAATGGCCTCCTGCAGGT	0.667																																						ENST00000409939.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999833	0.990000	1.000000																										0				6						c.(1453-1455)gaG>gaT		TBC1 domain family, member 10B							12.0	12.0	12.0					16																	30370680		2186	4255	6441	SO:0001583	missense	26000	0	0					g.chr16:30370680C>A	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1455G>T	chr16.hg19:g.30370680C>A	ENSP00000386538:p.Glu485Asp	0					RP11-347C12.10_ENST00000563252.1_lincRNA	p.E485D	NM_015527.3	NP_056342.3	1	2	3	2.056757	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)	7	1535	-			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	0	1	hg19	c.1455G>T	CCDS10676.2	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342328	0.41498	.	.	ENSG00000169221	ENST00000409939	T	0.12147	2.71	5.31	2.27	0.28462	5.31	2.27	0.28462	Rab-GAP/TBC domain (5);	0.000000	0.64402	D	0.000001	T	0.25901	0.0631	M	0.76433	2.335	0.50632	D	0.999888	P	0.50710	0.938	P	0.54664	0.758	T	0.00904	-1.1520	10	0.59425	D	0.04	.	7.8216	0.29290	0.0:0.5928:0.0:0.4072	.	485	Q4KMP7	TB10B_HUMAN	D	485	ENSP00000386538:E485D	ENSP00000386538:E485D	E	-	3	2	2	TBC1D10B	30278181	30278181	0.993000	0.37304	1.000000	0.80357	0.541000	0.35023	0.420000	0.21263	0.243000	0.21327	0.462000	0.41574	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.999570	1	0.170000	NM_015527			11	11		32	31	0		1	1		0	0	8	0		9.989226e-01	9.999985e-01	0	25	0	79	0	11	32
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000442458.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000399932.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.996766	0.990000	1.000000																										0				16						c.(25-27)gcC>gcT		integrin alpha FG-GAP repeat containing 3							157.0	161.0	160.0					16																	304439		1906	4121	6027	SO:0001819	synonymous_variant	83986	0	0					g.chr16:304439C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.27C>T	chr16.hg19:g.304439C>T		0		OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A	p.A9A	NM_001284497.1	NP_001271426.1	1	2	3	2.056757	Q9H0X4	ITFG3_HUMAN		3	478	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	1	1	hg19	c.27C>T	CCDS10402.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	1	0	1		2	2	2	0		0	0	239		239	238	1	2.060000	-3.318794	1	0.170000	NM_032039			126	126		1226	1208	1		1	1		0	0	239	0		1	1	0	42	0	304	0	126	1226
SEPT1	1731	broad.mit.edu	37	16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000571393.1	-	7	640	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000321367.3_Missense_Mutation_p.D199Y|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	152	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632																																						ENST00000571393.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(454-456)Gat>Tat		septin 1							93.0	89.0	90.0					16																	30392552		2197	4300	6497	SO:0001583	missense	1731	0	0					g.chr16:30392552C>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.454G>T	chr16.hg19:g.30392552C>A	ENSP00000460441:p.Asp152Tyr	0					SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000321367.3_Missense_Mutation_p.D199Y	p.D152Y			1	2	3	2.056757	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)	7	640	-			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	1	1	hg19	c.454G>T		1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.748985	0.69533	.	.	ENSG00000180096	ENST00000321367	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.175497	0.39909	N	0.001224	D	0.90256	0.6953	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92568	0.6064	9	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	152	Q8WYJ6	SEPT1_HUMAN	Y	152	.	ENSP00000324511:D152Y	D	-	1	0	0	SEPT1	30300053	30300053	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.783000	0.85696	2.884000	0.98904	0.655000	0.94253	GAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_052838			113	113		389	378	1		1	0		0	0	88	0		1	9.964734e-01	0	0	0	32	0	113	389
ZNF768	79724	broad.mit.edu	37	16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	362					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCGCTGGTGTCGCAGGAGGTA	0.632																																						ENST00000380412.5	1.000000	0.210000	1	3.200000e-01	0.460000	0.543455	0.460000	0.400000																										0				15						c.(1084-1086)cGa>cAa		zinc finger protein 768							43.0	44.0	44.0					16																	30536376		2197	4300	6497	SO:0001583	missense	79724	0	0					g.chr16:30536376C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1085G>A	chr16.hg19:g.30536376C>T	ENSP00000369777:p.Arg362Gln	0					ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	p.R362Q	NM_024671.3	NP_078947.3	1	2	3	2.056757	Q9H5H4	ZN768_HUMAN		2	1260	-			Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	1	1	hg19	c.1085G>A	CCDS10681.2	0	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205440	0.39003	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.55	4.55	0.56014	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002285	T	0.03564	0.0102	L	0.28458	0.855	0.28164	N	0.928832	P	0.40360	0.714	B	0.29176	0.099	T	0.23190	-1.0195	10	0.02654	T	1	-7.1639	5.7035	0.17895	0.1955:0.7065:0.0:0.098	.	362	Q9H5H4	ZN768_HUMAN	Q	362;275	ENSP00000369777:R362Q	ENSP00000369777:R362Q	R	-	2	0	0	ZNF768	30443877	30443877	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-1.355000	0.02612	2.384000	0.81235	0.205000	0.17691	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-10.378970	1	0.170000	NM_024671			9	9		253	247	0		1	1		0	0	45	1		9.938222e-01	9.944457e-01	0	9	0	253	0	9	253
ZNF768	79724	broad.mit.edu	37	16	30536780	30536780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536780C>T	ENST00000380412.5	-	2	856	c.681G>A	c.(679-681)ccG>ccA	p.P227P	ZNF768_ENST00000562803.1_Silent_p.P196P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	227					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTCAAACTGCGGTGTAGACA	0.662																																						ENST00000380412.5	1.000000	0.140000	1	2.000000e-01	0.270000	0.396695	0.270000	0.250000																										0				15						c.(679-681)ccG>ccA		zinc finger protein 768							60.0	64.0	63.0					16																	30536780		2197	4299	6496	SO:0001819	synonymous_variant	79724	23	121410	45				g.chr16:30536780C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.681G>A	chr16.hg19:g.30536780C>T		0					ZNF768_ENST00000562803.1_Silent_p.P196P	p.P227P	NM_024671.3	NP_078947.3	1	2	3	2.056757	Q9H5H4	ZN768_HUMAN		2	856	-			Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	0	1	hg19	c.681G>A	CCDS10681.2	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-2.679917	1	0.170000	NM_024671			14	14		648	645	0		1	1		0	0	117	0		9.997475e-01	8.793141e-01	0	4	0	171	0	14	648
ZNF768	79724	broad.mit.edu	37	16	30536921	30536921	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536921G>A	ENST00000380412.5	-	2	715	c.540C>T	c.(538-540)ccC>ccT	p.P180P	ZNF768_ENST00000562803.1_Silent_p.P149P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	180					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P180P(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTTTCCTCGGGGTTCAGAA	0.522																																						ENST00000380412.5	1.000000	0.110000	1	1.600000e-01	0.210000	0.348612	0.210000	0.200000																										2	Substitution - coding silent(2)	p.P180P(2)	lung(1)|kidney(1)	15						c.(538-540)ccC>ccT		zinc finger protein 768							110.0	117.0	114.0					16																	30536921		2197	4300	6497	SO:0001819	synonymous_variant	79724	0	0					g.chr16:30536921G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.540C>T	chr16.hg19:g.30536921G>A		0					ZNF768_ENST00000562803.1_Silent_p.P149P	p.P180P	NM_024671.3	NP_078947.3	1	2	3	2.056757	Q9H5H4	ZN768_HUMAN		2	715	-			Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	0	1	hg19	c.540C>T	CCDS10681.2	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-1.777015	0	0.170000	NM_024671			16	16		944	929	0		1	1		0	0	172	0		9.999215e-01	9.340730e-01	0	7	0	267	0	16	944
ZNF768	79724	broad.mit.edu	37	16	30537047	30537047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507																																						ENST00000380412.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(412-414)cgG>cgA		zinc finger protein 768							55.0	60.0	58.0					16																	30537047		2197	4300	6497	SO:0001819	synonymous_variant	79724	0	0					g.chr16:30537047C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.414G>A	chr16.hg19:g.30537047C>T		0					ZNF768_ENST00000562803.1_Silent_p.R107R	p.R138R	NM_024671.3	NP_078947.3	1	2	3	2.056757	Q9H5H4	ZN768_HUMAN		2	589	-			Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	1	1	hg19	c.414G>A	CCDS10681.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_024671			120	119		494	492	1		1	1		0	0	147	0		1	1	0	108	0	196	0	120	494
ZNF688	146542	broad.mit.edu	37	16	30581384	30581384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	ZNF688_ENST00000395219.1_Silent_p.A214A|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	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)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721																																						ENST00000223459.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(682-684)gcG>gcA		zinc finger protein 688							13.0	15.0	14.0					16																	30581384		2188	4282	6470	SO:0001819	synonymous_variant	146542	0	0					g.chr16:30581384C>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.684G>A	chr16.hg19:g.30581384C>T		0					ZNF688_ENST00000395219.1_Silent_p.A214A|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	p.A228A	NM_145271.3	NP_660314.1	1	2	3	2.056757	P0C7X2	ZN688_HUMAN		3	1788	-			A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	1	1	hg19	c.684G>A	CCDS10684.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_145271			27	25		103	103	1		1	1		0	0	18	0		1	9.854895e-01	0	9	0	20	0	27	103
CLDN9	9080	broad.mit.edu	37	16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	79					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647																																						ENST00000445369.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(235-237)gCc>gTc		claudin 9							100.0	79.0	86.0					16																	3063599		2198	4300	6498	SO:0001583	missense	9080	0	0					g.chr16:3063599C>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.236C>T	chr16.hg19:g.3063599C>T	ENSP00000398017:p.Ala79Val	0						p.A79V	NM_020982.3	NP_066192.1	1	2	3	2.056757	O95484	CLD9_HUMAN		1	1143	+				Missense_Mutation	SNP	ENST00000445369.2	1	1	hg19	c.236C>T	CCDS10487.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941470	0.53079	.	.	ENSG00000213937	ENST00000445369	D	0.91996	-2.95	4.72	3.74	0.42951	4.72	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.52758	0.708	D	0.93375	0.6738	10	0.66056	D	0.02	.	11.8215	0.52240	0.1766:0.8234:0.0:0.0	.	79	O95484	CLD9_HUMAN	V	79	ENSP00000398017:A79V	ENSP00000398017:A79V	A	+	2	0	0	CLDN9	3003600	3003600	1.000000	0.71417	0.828000	0.32881	0.394000	0.30568	5.929000	0.70096	1.144000	0.42321	0.467000	0.42956	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_020982			97	97		326	319	1		1	0		0	0	61	0		1	1.350857e-01	0	0	0	3	0	97	326
ZNF785	146540	broad.mit.edu	37	16	30594073	30594073	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	342					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(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667																																						ENST00000395216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1024-1026)tgC>tgT		zinc finger protein 785							50.0	55.0	53.0					16																	30594073		2197	4300	6497	SO:0001819	synonymous_variant	146540	0	0					g.chr16:30594073G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1026C>T	chr16.hg19:g.30594073G>A		0					ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	p.C342C	NM_152458.6	NP_689671.2	1	2	3	2.056757	A8K8V0	ZN785_HUMAN		3	1185	-			O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	1	1	hg19	c.1026C>T	CCDS10685.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_152458			81	77		394	389	1		1	1		0	0	77	0		1	9.072623e-01	0	7	0	15	0	81	394
PRR14	78994	broad.mit.edu	37	16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652																																						ENST00000542965.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(322-324)Gac>Aac		proline rich 14							42.0	46.0	45.0					16																	30664242		2197	4300	6497	SO:0001583	missense	78994	1	121412	36				g.chr16:30664242G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.322G>A	chr16.hg19:g.30664242G>A	ENSP00000441641:p.Asp108Asn	0					PRR14_ENST00000300835.4_Missense_Mutation_p.D108N	p.D108N			1	2	3	2.056757	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)	4	778	+			Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	1	1	hg19	c.322G>A	CCDS10687.1	1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372918	0.24857	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61158	0.13;0.13	5.5	3.46	0.39613	5.5	3.46	0.39613	.	0.325087	0.26116	N	0.026241	T	0.49898	0.1584	M	0.64997	1.995	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.48779	-0.9005	10	0.54805	T	0.06	-0.9373	5.4869	0.16755	0.1091:0.0:0.6967:0.1942	.	108	Q9BWN1	PRR14_HUMAN	N	81;108;108	ENSP00000300835:D108N;ENSP00000441641:D108N	ENSP00000287463:D81N	D	+	1	0	0	PRR14	30571743	30571743	0.859000	0.29813	0.010000	0.14722	0.110000	0.19582	2.079000	0.41577	0.587000	0.29643	0.585000	0.79938	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-3.551133	1	0.170000	NM_024031			72	70		274	270	1		1	1		0	0	68	0		1	9.998702e-01	0	17	0	36	0	72	274
PRR14	78994	broad.mit.edu	37	16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*			Q9BWN1	PRR14_HUMAN	proline rich 14	293	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGAGGCCGAGCAGTCTGGGGC	0.627																																						ENST00000542965.2	1.000000	0.260000	1	3.600000e-01	0.490000	0.566890	0.490000	0.450000																										0				18						c.(877-879)Cag>Tag		proline rich 14							36.0	39.0	38.0					16																	30666168		2197	4299	6496	SO:0001587	stop_gained	78994	0	0					g.chr16:30666168C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.877C>T	chr16.hg19:g.30666168C>T	ENSP00000441641:p.Gln293*	0					PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR	p.Q293*			1	2	3	2.056757	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)	7	1333	+			Q8WTX2	Nonsense_Mutation	SNP	ENST00000542965.2	0	1	hg19	c.877C>T	CCDS10687.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.361763	0.98235	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	5.75	3.56	0.40772	5.75	3.56	0.40772	.	0.440563	0.20816	N	0.085141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.0254	9.3627	0.38206	0.142:0.6106:0.2474:0.0	.	.	.	.	X	266;293;293	.	ENSP00000287463:Q266X	Q	+	1	0	0	PRR14	30573669	30573669	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.508000	0.35769	2.716000	0.92895	0.643000	0.83706	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-13.889910	1	0.170000	NM_024031			13	13		334	325	0		1	0		0	0	57	0		9.994730e-01	9.007015e-01	0	1	0	105	0	13	334
PRR14	78994	broad.mit.edu	37	16	30666368	30666368	+	Silent	SNP	G	G	A	rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Silent_p.P359P			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481). {ECO:0000269|PubMed:15489334}.							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701													G|||	10	0.00199681	0.0076	0.0	5008	,	,		12043	0.0		0.0	False		,,,				2504	0.0					ENST00000542965.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1075-1077)ccG>ccA		proline rich 14		G		16,4372		0,16,2178	24.0	30.0	28.0		1077	-10.4	0.8	16	dbSNP_134	28	0,8592		0,0,4296	no	coding-synonymous	PRR14	NM_024031.2		0,16,6474	AA,AG,GG		0.0,0.3646,0.1233		359/586	30666368	16,12964	2194	4296	6490	SO:0001819	synonymous_variant	78994	55	121224	47				g.chr16:30666368G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1077G>A	chr16.hg19:g.30666368G>A		0					PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron	p.P359P			1	2	3	2.056757	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)	7	1533	+			Q8WTX2	Silent	SNP	ENST00000542965.2	1	1	hg19	c.1077G>A	CCDS10687.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-5.437837	1	0.170000	NM_024031			66	66		370	360	1		1	1		0	0	72	0		1	1	0	48	0	147	0	66	370
PRR14	78994	broad.mit.edu	37	16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q			Q9BWN1	PRR14_HUMAN	proline rich 14	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701																																						ENST00000542965.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1078-1080)cGg>cAg		proline rich 14							24.0	30.0	28.0					16																	30666370		2192	4295	6487	SO:0001583	missense	78994	1	121242	31				g.chr16:30666370G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1079G>A	chr16.hg19:g.30666370G>A	ENSP00000441641:p.Arg360Gln	0					PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron	p.R360Q			1	2	3	2.056757	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)	7	1535	+			Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	1	1	hg19	c.1079G>A	CCDS10687.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.457720	0.20325	N	0.094558	T	0.67078	0.2855	M	0.67953	2.075	0.33381	D	0.574913	D	0.89917	1.0	D	0.83275	0.996	T	0.73594	-0.3933	10	0.42905	T	0.14	-12.9856	16.0349	0.80617	0.0:0.0:1.0:0.0	.	360	Q9BWN1	PRR14_HUMAN	Q	333;360;360	ENSP00000300835:R360Q;ENSP00000441641:R360Q	ENSP00000287463:R333Q	R	+	2	0	0	PRR14	30573871	30573871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.502000	0.66956	2.507000	0.84556	0.563000	0.77884	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.646816	1	0.170000	NM_024031			92	87		344	339	1		1	1		0	0	70	0		1	1	0	50	0	145	0	92	344
PRR14	78994	broad.mit.edu	37	16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q			Q9BWN1	PRR14_HUMAN	proline rich 14	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642																																						ENST00000542965.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.991910	0.990000	1.000000																										0				18						c.(1588-1590)cGa>cAa		proline rich 14							71.0	78.0	76.0					16																	30667463		2197	4300	6497	SO:0001583	missense	78994	1	121402	42				g.chr16:30667463G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1589G>A	chr16.hg19:g.30667463G>A	ENSP00000441641:p.Arg530Gln	0					FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q	p.R530Q			1	2	3	2.056757	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)	11	2045	+			Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	1	1	hg19	c.1589G>A	CCDS10687.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029849	0.75504	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.59906	0.23;0.23	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.68593	2.085	0.44110	D	0.996881	D	0.76494	0.999	D	0.68765	0.96	T	0.75468	-0.3307	10	0.87932	D	0	-7.6571	17.5606	0.87906	0.0:0.0:1.0:0.0	.	530	Q9BWN1	PRR14_HUMAN	Q	503;530;530	ENSP00000300835:R530Q;ENSP00000441641:R530Q	ENSP00000287463:R503Q	R	+	2	0	0	PRR14	30574964	30574964	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.874000	0.63064	2.890000	0.99128	0.650000	0.86243	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1		2	2	2	0		0	0	121		121	117	1	2.060000	-3.318794	1	0.170000	NM_024031			64	63		617	606	1		1	1		0	0	121	0		1	1	0	36	0	255	0	64	617
FBRS	64319	broad.mit.edu	37	16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000287468.5	+	11	915	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000356166.6_Missense_Mutation_p.A738T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687																																						ENST00000287468.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.995938	0.990000	1.000000																										0				1						c.(652-654)Gcc>Acc		fibrosin							11.0	16.0	14.0					16																	30680146		2185	4283	6468	SO:0001583	missense	64319	2	120908	26				g.chr16:30680146G>A	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.652G>A	chr16.hg19:g.30680146G>A	ENSP00000287468:p.Ala218Thr	0					FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000356166.6_Missense_Mutation_p.A738T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T	p.A218T	NM_001105079.1	NP_001098549.1	1	2	3	2.056757	Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)	11	915	+			B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	0	1	hg19	c.652G>A		1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408585	0.42715	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32515	1.45	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.166295	0.37715	N	0.001969	T	0.22859	0.0552	L	0.29908	0.895	0.29528	N	0.852992	B	0.26400	0.148	B	0.16722	0.016	T	0.10314	-1.0635	10	0.41790	T	0.15	-5.1837	13.0397	0.58891	0.0:0.2736:0.7264:0.0	.	218	Q9HAH7	FBRS_HUMAN	T	738;218;130	ENSP00000348489:A738T	ENSP00000287468:A218T	A	+	1	0	0	FBRS	30587647	30587647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.389000	0.44407	2.584000	0.87258	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	9		9	7	1	2.060000	-19.993970	1	0.170000	NM_022452			13	13		83	83	0		1	1		0	0	9	0		9.996621e-01	9.999995e-01	0	59	0	155	0	13	83
TNFRSF12A	51330	broad.mit.edu	37	16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|TNFRSF12A_ENST00000575124.1_Intron|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000574549.1_5'Flank|TNFRSF12A_ENST00000341627.5_Intron|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|CLDN6_ENST00000396925.1_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	54					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736																																						ENST00000326577.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				2						c.(160-162)tCt>tTt		tumor necrosis factor receptor superfamily, member 12A							13.0	15.0	14.0					16																	3071282		2182	4281	6463	SO:0001583	missense	51330	0	0					g.chr16:3071282C>T	AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.161C>T	chr16.hg19:g.3071282C>T	ENSP00000326737:p.Ser54Phe	0					TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|THOC6_ENST00000253952.9_5'Flank|TNFRSF12A_ENST00000341627.5_Intron|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000575124.1_Intron|THOC6_ENST00000575576.1_5'Flank|CLDN6_ENST00000396925.1_5'Flank	p.S54F	NM_016639.2	NP_057723.1	1	2	3	2.056757	Q9NP84	TNR12_HUMAN		2	247	+			D3DUA6|Q9HCS0	Missense_Mutation	SNP	ENST00000326577.4	1	1	hg19	c.161C>T	CCDS10489.1	1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050320	0.19827	.	.	ENSG00000006327	ENST00000326577	.	.	.	4.76	3.81	0.43845	4.76	3.81	0.43845	.	.	.	.	.	T	0.44286	0.1286	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.46850	0.529	T	0.37291	-0.9712	8	0.54805	T	0.06	-7.165	9.1036	0.36685	0.0:0.8976:0.0:0.1024	.	54	Q9NP84	TNR12_HUMAN	F	54	.	ENSP00000326737:S54F	S	+	2	0	0	TNFRSF12A	3011283	3011283	0.707000	0.27866	0.682000	0.30024	0.219000	0.24729	2.992000	0.49417	1.003000	0.39130	0.561000	0.74099	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				24	24		97	97	0		1	1		0	0	15	0		9.999999e-01	1	0	139	0	207	0	24	97
FBRS	64319	broad.mit.edu	37	16	30680839	30680839	+	Missense_Mutation	SNP	C	C	T	rs146279694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680839C>T	ENST00000287468.5	+	12	1519	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000356166.6_Missense_Mutation_p.P939L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	419	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			GCTGCGGCCCCGGGAACCCCT	0.716																																						ENST00000287468.5	1.000000	0.120000	1	1.500000e-01	0.190000	0.334178	0.190000	0.180000																										0				1						c.(1255-1257)cCg>cTg		fibrosin		C	LEU/PRO	0,4274		0,0,2137	80.0	101.0	94.0		1256	4.1	0.9	16	dbSNP_134	94	1,8475		0,1,4237	no	missense	FBRS	NM_001105079.1	98	0,1,6374	TT,TC,CC		0.0118,0.0,0.0078	benign	419/461	30680839	1,12749	2137	4238	6375	SO:0001583	missense	64319	3	121076	41				g.chr16:30680839C>T	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1256C>T	chr16.hg19:g.30680839C>T	ENSP00000287468:p.Pro419Leu	0					FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000356166.6_Missense_Mutation_p.P939L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L	p.P419L	NM_001105079.1	NP_001098549.1	1	2	3	2.056757	Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)	12	1519	+			B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	0	1	hg19	c.1256C>T		0	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893585	0.33442	0.0	1.18E-4	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32753	1.44	5.09	4.14	0.48551	5.09	4.14	0.48551	.	0.344694	0.27473	N	0.019219	T	0.19406	0.0466	N	0.22421	0.69	0.50813	D	0.999891	B	0.06786	0.001	B	0.04013	0.001	T	0.04593	-1.0940	10	0.40728	T	0.16	-4.522	8.3844	0.32491	0.1539:0.7642:0.0:0.0819	.	419	Q9HAH7	FBRS_HUMAN	L	939;419;331	ENSP00000348489:P939L	ENSP00000287468:P419L	P	+	2	0	0	FBRS	30588340	30588340	0.947000	0.32204	0.880000	0.34516	0.974000	0.67602	2.146000	0.42216	1.383000	0.46405	0.561000	0.74099	CCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	234		234	228	1	2.060000	-1.708724	0	0.170000	NM_022452			25	25		1580	1556	0		1	1		0	0	234	0		9.999998e-01	6.648737e-01	0	2	0	142	0	25	1580
SRCAP	10847	broad.mit.edu	37	16	30740437	30740437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30740437G>A	ENST00000262518.4	+	26	6194	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1937					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)			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)			CAGCCCCATCGGCCCTCGTTC	0.597																																						ENST00000262518.4	1.000000	0.210000	1	2.900000e-01	0.400000	0.499312	0.400000	0.360000																										0				136						c.(5809-5811)Ggc>Agc		Snf2-related CREBBP activator protein							54.0	55.0	55.0					16																	30740437		2197	4300	6497	SO:0001583	missense	10847	2	121412	34				g.chr16:30740437G>A	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.5809G>A	chr16.hg19:g.30740437G>A	ENSP00000262518:p.Gly1937Ser	0					SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S	p.G1937S	NM_006662.2	NP_006653.2	1	2	3	2.056757	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	26	6194	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	1	1	hg19	c.5809G>A	CCDS10689.2	0	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496274	0.44352	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91180	-2.77;-2.8;-2.78	5.4	4.45	0.53987	5.4	4.45	0.53987	.	0.000000	0.56097	D	0.000035	T	0.75708	0.3886	N	0.03608	-0.345	0.36061	D	0.841433	P;B	0.39443	0.674;0.32	B;B	0.32677	0.15;0.072	T	0.80770	-0.1234	10	0.36615	T	0.2	-1.5968	11.2141	0.48817	0.0851:0.0:0.9149:0.0	.	1875;1937	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1937;1875;1779	ENSP00000262518:G1937S;ENSP00000378499:G1875S;ENSP00000343042:G1779S	ENSP00000262518:G1937S	G	+	1	0	0	SRCAP	30647938	30647938	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.899000	0.48679	1.525000	0.49052	0.591000	0.81541	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.318794	1	0.170000	NM_006662			12	11		378	370	0		1	1		0	0	78	0		9.990174e-01	9.112126e-01	0	11	0	124	0	12	378
SRCAP	10847	broad.mit.edu	37	16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2234	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			AGAGACTGTGGCCAGCAAGCA	0.478																																						ENST00000262518.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(6700-6702)Gcc>Tcc		Snf2-related CREBBP activator protein							117.0	110.0	112.0					16																	30745907		2197	4300	6497	SO:0001583	missense	10847	0	0					g.chr16:30745907G>T	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.6700G>T	chr16.hg19:g.30745907G>T	ENSP00000262518:p.Ala2234Ser	0					SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S	p.A2234S	NM_006662.2	NP_006653.2	1	2	3	2.056757	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	31	7085	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	1	1	hg19	c.6700G>T	CCDS10689.2	1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573208	0.45902	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07688	3.17;3.17;3.17	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.240983	0.29480	N	0.012035	T	0.07369	0.0186	N	0.04508	-0.205	0.30318	N	0.787897	D;D	0.56287	0.975;0.958	P;B	0.52386	0.697;0.423	T	0.27262	-1.0079	10	0.24483	T	0.36	-13.8238	12.661	0.56813	0.076:0.0:0.924:0.0	.	2172;2234	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2234;2172;2076	ENSP00000262518:A2234S;ENSP00000378499:A2172S;ENSP00000343042:A2076S	ENSP00000262518:A2234S	A	+	1	0	0	SRCAP	30653408	30653408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.873000	0.98535	0.563000	0.77884	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_006662			105	105		372	362	1		1	1		0	0	113	0		1	1	0	44	0	111	0	105	372
SRCAP	10847	broad.mit.edu	37	16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2675	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)			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)			CAGGACCTCGGAAGAGCTGAC	0.592																																						ENST00000262518.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.990993	0.990000	1.000000																										0				136						c.(8023-8025)Gaa>Taa		Snf2-related CREBBP activator protein							78.0	66.0	70.0					16																	30749384		2197	4300	6497	SO:0001587	stop_gained	10847	0	0					g.chr16:30749384G>T	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.8023G>T	chr16.hg19:g.30749384G>T	ENSP00000262518:p.Glu2675*	0					SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|RP11-2C24.4_ENST00000483578.1_lincRNA	p.E2675*	NM_006662.2	NP_006653.2	1	2	3	2.056757	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	34	8408	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	0	1	hg19	c.8023G>T	CCDS10689.2	1	.	.	.	.	.	.	.	.	.	.	G	44	10.550334	0.99426	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.272978	0.26289	N	0.025226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.7686	14.0938	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	2675;2613;2517	.	ENSP00000262518:E2675X	E	+	1	0	0	SRCAP	30656885	30656885	0.993000	0.37304	0.967000	0.41034	0.135000	0.20990	2.659000	0.46741	2.543000	0.85770	0.467000	0.42956	GAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_006662			35	34		316	307	1		1	1		0	0	91	0		1	9.999974e-01	0	34	0	146	0	35	316
THOC6	79228	broad.mit.edu	37	16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	172					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607																																						ENST00000326266.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(514-516)cAc>cGc		THO complex 6 homolog (Drosophila)							69.0	62.0	65.0					16																	3076711		2198	4300	6498	SO:0001583	missense	79228	0	0					g.chr16:3076711A>G	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.515A>G	chr16.hg19:g.3076711A>G	ENSP00000326531:p.His172Arg	0					HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	p.H172R	NM_024339.3	NP_077315.2	1	2	3	2.056757	Q86W42	THOC6_HUMAN		8	811	+			B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	1	1	hg19	c.515A>G	CCDS10491.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152989	0.78001	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.57107	0.42;0.42	5.59	5.59	0.84812	5.59	5.59	0.84812	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	0.54287	0.1849	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.967;0.979	T	0.51348	-0.8717	10	0.20046	T	0.44	-12.7575	13.695	0.62572	1.0:0.0:0.0:0.0	.	172;172	Q86W42-3;Q86W42	.;THOC6_HUMAN	R	172	ENSP00000326531:H172R;ENSP00000253952:H172R	ENSP00000253952:H172R	H	+	2	0	0	THOC6	3016712	3016712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.125000	0.65367	0.459000	0.35465	CAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_024339			32	32		110	107	1		1	1		0	0	32	0		1	1	0	81	0	142	0	32	110
THOC6	79228	broad.mit.edu	37	16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	175					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACTGCCTGGCACTGCGGGA	0.607																																						ENST00000326266.8	1.000000	0.230000	1	3.700000e-01	0.580000	0.635233	0.580000	1.000000																										0				13						c.(523-525)Gca>Aca		THO complex 6 homolog (Drosophila)							72.0	65.0	67.0					16																	3076719		2198	4300	6498	SO:0001583	missense	79228	0	0					g.chr16:3076719G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.523G>A	chr16.hg19:g.3076719G>A	ENSP00000326531:p.Ala175Thr	0					HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	p.A175T	NM_024339.3	NP_077315.2	1	2	3	2.056757	Q86W42	THOC6_HUMAN		8	819	+			B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	1	1	hg19	c.523G>A	CCDS10491.1	0	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591751	0.46214	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.63744	-0.06;-0.06	5.59	5.59	0.84812	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161710	0.53938	D	0.000043	T	0.59432	0.2193	L	0.52759	1.655	0.39501	D	0.968208	B;B	0.29552	0.208;0.248	B;B	0.30179	0.068;0.112	T	0.60326	-0.7285	10	0.46703	T	0.11	-22.8815	17.0618	0.86549	0.0:0.0:1.0:0.0	.	175;175	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	175	ENSP00000326531:A175T;ENSP00000253952:A175T	ENSP00000253952:A175T	A	+	1	0	0	THOC6	3016720	3016720	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.137000	0.42130	2.631000	0.89168	0.561000	0.74099	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	1	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-4.065004	1	0.170000	NM_024339			6	6		137	134	0		1	1		0	0	31	0		9.636741e-01	9.932652e-01	0	15	0	210	0	6	137
SRCAP	10847	broad.mit.edu	37	16	30750367	30750367	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000395059.2_Silent_p.P2940P|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.P2844P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3002	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)			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)			CAACGTCCCCACCCAAACGGA	0.592																																						ENST00000262518.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				136						c.(9004-9006)ccA>ccG		Snf2-related CREBBP activator protein							146.0	115.0	126.0					16																	30750367		2197	4300	6497	SO:0001819	synonymous_variant	10847	0	0					g.chr16:30750367A>G	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.9006A>G	chr16.hg19:g.30750367A>G		0					SRCAP_ENST00000344771.4_Silent_p.P2844P|SRCAP_ENST00000395059.2_Silent_p.P2940P|RP11-2C24.4_ENST00000483578.1_lincRNA	p.P3002P	NM_006662.2	NP_006653.2	1	2	3	2.056757	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	34	9391	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	1	1	hg19	c.9006A>G	CCDS10689.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_006662			49	48		318	306	1		1	1		0	0	74	0		1	1	0	90	0	141	0	49	318
CCDC64B	146439	broad.mit.edu	37	16	3078764	3078764	+	Missense_Mutation	SNP	G	G	A	rs376295108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	ENST00000572449.1	-	8	1237	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V|CCDC64B_ENST00000573514.1_Missense_Mutation_p.A185V			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	392										breast(1)|endometrium(2)|large_intestine(1)	4						GTCTTCCTGCGCCCGCAGCTC	0.667																																						ENST00000572449.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				4						c.(1174-1176)gCg>gTg		coiled-coil domain containing 64B		G	VAL/ALA	2,4062		0,2,2030	23.0	32.0	29.0		1175	-0.6	0.0	16		29	0,8302		0,0,4151	no	missense	CCDC64B	NM_001103175.1	64	0,2,6181	AA,AG,GG		0.0,0.0492,0.0162	benign	392/509	3078764	2,12364	2032	4151	6183	SO:0001583	missense	146439	4	115244	27				g.chr16:3078764G>A	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1175C>T	chr16.hg19:g.3078764G>A	ENSP00000459043:p.Ala392Val	0					CCDC64B_ENST00000573514.1_Missense_Mutation_p.A185V|CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V	p.A392V			1	2	3	2.056757	A1A5D9	BICR2_HUMAN		8	1237	-			Q658L9	Missense_Mutation	SNP	ENST00000572449.1	0	1	hg19	c.1175C>T	CCDS45393.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274034	0.23221	4.92E-4	0.0	ENSG00000162069	ENST00000389347	T	0.32023	1.47	4.28	-0.618	0.11576	4.28	-0.618	0.11576	.	0.720818	0.12366	N	0.475230	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18366	-1.0339	10	0.45353	T	0.12	-3.7626	5.0526	0.14516	0.1749:0.0:0.2826:0.5425	.	392	A1A5D9	BICR2_HUMAN	V	392	ENSP00000373998:A392V	ENSP00000373998:A392V	A	-	2	0	0	CCDC64B	3018765	3018765	0.000000	0.05858	0.006000	0.13384	0.239000	0.25481	0.214000	0.17541	-0.176000	0.10707	0.561000	0.74099	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.997120	1	0.170000				9	9		12	12	1		1	1		0	0	9	0		9.975165e-01	9.999558e-01	0	23	0	18	0	9	12
RNF40	9810	broad.mit.edu	37	16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	rs11556801	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000324685.6	+	11	1823	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	463			R -> H (in dbSNP:rs11556801).		histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612																																						ENST00000324685.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1387-1389)cGc>cAc		ring finger protein 40, E3 ubiquitin protein ligase							71.0	49.0	56.0					16																	30778156		2197	4300	6497	SO:0001583	missense	9810	0	0					g.chr16:30778156G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1388G>A	chr16.hg19:g.30778156G>A	ENSP00000325677:p.Arg463His	0					RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H	p.R463H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	1	2	3	2.056757	O75150	BRE1B_HUMAN	Colorectal(24;0.198)	11	1823	+			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	1	1	hg19	c.1388G>A	CCDS10691.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.522352	0.96431	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.37235	1.21;1.21;1.21	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68454	-0.5404	10	0.52906	T	0.07	-11.9928	18.7552	0.91830	0.0:0.0:1.0:0.0	rs11556801;rs11556801	155;363;463;463	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	463;363;155	ENSP00000325677:R463H;ENSP00000350563:R363H;ENSP00000384942:R155H	ENSP00000325677:R463H	R	+	2	0	0	RNF40	30685657	30685657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_014771			41	41		115	113	1		1	1		0	0	36	0		1	1	0	69	0	177	0	41	115
ITFG3	83986	broad.mit.edu	37	16	309975	309975	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000442458.2_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	131						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGCTTTTCCTCTCCCTGCA	0.637																																						ENST00000399932.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(391-393)tcC>tcA		integrin alpha FG-GAP repeat containing 3							54.0	54.0	54.0					16																	309975		2019	4159	6178	SO:0001819	synonymous_variant	83986	0	0					g.chr16:309975C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.393C>A	chr16.hg19:g.309975C>A		0					ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S	p.S131S	NM_001284497.1	NP_001271426.1	1	2	3	2.056757	Q9H0X4	ITFG3_HUMAN		5	844	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	1	1	hg19	c.393C>A	CCDS10402.1	1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093049	0.01858	.	.	ENSG00000167930	ENST00000421000	.	.	.	4.38	1.3	0.21679	4.38	1.3	0.21679	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24654	N	0.993503	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-4.4893	3.7011	0.08383	0.0:0.4522:0.1843:0.3635	.	.	.	.	H	60	.	.	P	+	2	0	0	ITFG3	249976	249976	0.001000	0.12720	0.091000	0.20842	0.034000	0.12701	-0.327000	0.07955	0.579000	0.29504	0.655000	0.94253	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_032039			49	49		179	175	1		1	1		0	0	39	0		1	1	0	121	0	216	0	49	179
ZNF629	23361	broad.mit.edu	37	16	30794890	30794890	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642																																						ENST00000262525.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(757-759)caG>caA		zinc finger protein 629							97.0	101.0	100.0					16																	30794890		2196	4300	6496	SO:0001819	synonymous_variant	23361	0	0					g.chr16:30794890C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.759G>A	chr16.hg19:g.30794890C>T		0						p.Q253Q	NM_001080417.1	NP_001073886.1	1	2	3	2.056757	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)	3	966	-			Q15938	Silent	SNP	ENST00000262525.4	1	1	hg19	c.759G>A	CCDS45463.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_015309			87	85		328	320	1		1	1		0	0	70	0		1	9.966101e-01	0	4	0	31	0	87	328
HSD3B7	80270	broad.mit.edu	37	16	30997931	30997931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30997931A>G	ENST00000297679.5	+	5	530	c.437A>G	c.(436-438)aAc>aGc	p.N146S	HSD3B7_ENST00000262520.6_Missense_Mutation_p.N146S|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	146					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAGGGGCAACGAAGACACC	0.602																																						ENST00000297679.5	1.000000	0.130000	1	1.900000e-01	0.290000	0.406158	0.290000	0.250000																										0				12						c.(436-438)aAc>aGc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							95.0	94.0	94.0					16																	30997931		2197	4300	6497	SO:0001583	missense	80270	0	0					g.chr16:30997931A>G	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.437A>G	chr16.hg19:g.30997931A>G	ENSP00000297679:p.Asn146Ser	0					HSD3B7_ENST00000262520.6_Missense_Mutation_p.N146S|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|AC135048.1_ENST00000602217.1_5'Flank	p.N146S	NM_025193.3	NP_079469.2	1	2	3	2.056757	Q9H2F3	3BHS7_HUMAN		5	530	+			Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	0	1	hg19	c.437A>G	CCDS10698.1	0	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038306	0.75617	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.84873	-1.91;-1.91;-1.91	5.65	5.65	0.86999	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.042077	0.85682	D	0.000000	D	0.88687	0.6504	M	0.62088	1.915	0.52501	D	0.999951	B;P	0.49862	0.368;0.929	B;P	0.56216	0.292;0.794	D	0.87868	0.2669	10	0.38643	T	0.18	-15.5205	13.8286	0.63366	1.0:0.0:0.0:0.0	.	146;146	Q96M28;Q9H2F3	.;3BHS7_HUMAN	S	146	ENSP00000262520:N146S;ENSP00000370662:N146S;ENSP00000297679:N146S	ENSP00000262520:N146S	N	+	2	0	0	HSD3B7	30905432	30905432	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.574000	0.67424	2.154000	0.67381	0.459000	0.35465	AAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	0	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-8.758649	1	0.170000				9	7		412	407	0		1	1		0	0	83	0		9.938780e-01	9.855500e-01	0	29	0	310	0	9	412
HSD3B7	80270	broad.mit.edu	37	16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632																																						ENST00000297679.5	1.000000	0.310000	1	3.700000e-01	0.440000	0.532970	0.440000	0.430000																										0				12						c.(796-798)aGg>aTg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							126.0	124.0	125.0					16																	30999191		2197	4299	6496	SO:0001583	missense	80270	0	0					g.chr16:30999191G>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.797G>T	chr16.hg19:g.30999191G>T	ENSP00000297679:p.Arg266Met	0					HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	p.R266M	NM_025193.3	NP_079469.2	1	2	3	2.056757	Q9H2F3	3BHS7_HUMAN		7	890	+			Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	1	1	hg19	c.797G>T	CCDS10698.1	0	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066174	0.55539	.	.	ENSG00000099377	ENST00000297679	T	0.62941	-0.01	5.1	5.1	0.69264	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.044917	0.85682	D	0.000000	T	0.30978	0.0782	N	0.00879	-1.12	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.09422	-1.0675	10	0.41790	T	0.15	-25.6465	10.0568	0.42250	0.9187:0.0:0.0813:0.0	.	266	Q9H2F3	3BHS7_HUMAN	M	266	ENSP00000297679:R266M	ENSP00000297679:R266M	R	+	2	0	0	HSD3B7	30906692	30906692	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.505000	0.53356	0.785000	0.33685	-0.254000	0.11334	AGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	0	0	1		2	2	2	0		0	0	204		204	198	1	2.060000	-2.893166	1	0.170000				47	47		1273	1262	1		1	1		0	0	204	0		1	9.903240e-01	0	26	0	166	0	47	1273
MMP25	64386	broad.mit.edu	37	16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A	rs538501940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	184					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CATCCTCATCGACTTTGCCCG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.001		0.0	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4	1.000000	0.290000	1	3.900000e-01	0.530000	0.596107	0.530000	0.480000																										0				14						c.(517-519)Gac>Aac		matrix metallopeptidase 25	Marimastat(DB00786)						52.0	48.0	49.0					16																	3100403		2197	4300	6497	SO:0001583	missense	64386	1	121412	32				g.chr16:3100403G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.517G>A	chr16.hg19:g.3100403G>A	ENSP00000337816:p.Asp173Asn	0					MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	p.D173N	NM_022468.4	NP_071913.1	1	2	3	2.056757	Q9H239	MMP28_HUMAN		4	754	+			Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	1	1	hg19	c.517G>A	CCDS10492.1	0	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891265	0.17613	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.20463	2.07	4.96	2.83	0.33086	4.96	2.83	0.33086	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123299	0.36034	N	0.002821	T	0.21186	0.0510	L	0.54323	1.7	0.22127	N	0.999349	P;P	0.44690	0.806;0.841	B;P	0.44897	0.232;0.463	T	0.07790	-1.0754	10	0.27785	T	0.31	.	7.8239	0.29303	0.0949:0.2212:0.6838:0.0	.	97;173	O43923;Q9NPA2	.;MMP25_HUMAN	N	173;100	ENSP00000337816:D173N	ENSP00000324953:D100N	D	+	1	0	0	MMP25	3040404	3040404	0.000000	0.05858	0.990000	0.47175	0.115000	0.19883	0.369000	0.20416	0.380000	0.24823	0.655000	0.94253	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-14.651440	1	0.170000	NM_022468			14	14		332	326	0		1	0		0	0	57	0		9.997381e-01	2.601728e-02	0	0	0	6	0	14	332
HSD3B7	80270	broad.mit.edu	37	16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	340					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.R340L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647																																						ENST00000297679.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										1	Substitution - Missense(1)	p.R340L(1)	upper_aerodigestive_tract(1)	12						c.(1018-1020)cGc>cAc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							41.0	36.0	38.0					16																	30999413		2197	4300	6497	SO:0001583	missense	80270	1	121404	27				g.chr16:30999413G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1019G>A	chr16.hg19:g.30999413G>A	ENSP00000297679:p.Arg340His	0					HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	p.R340H	NM_025193.3	NP_079469.2	1	2	3	2.056757	Q9H2F3	3BHS7_HUMAN		7	1112	+			Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	1	1	hg19	c.1019G>A	CCDS10698.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504362	0.85176	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	4.2	0.49525	5.17	4.2	0.49525	.	0.105382	0.64402	D	0.000019	T	0.69869	0.3159	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.71636	-0.4533	10	0.62326	D	0.03	-24.6471	9.4788	0.38889	0.1662:0.0:0.8338:0.0	.	340	Q9H2F3	3BHS7_HUMAN	H	340	ENSP00000297679:R340H	ENSP00000297679:R340H	R	+	2	0	0	HSD3B7	30906914	30906914	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.398000	0.81561	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				34	34		192	191	1		1	1		0	0	39	0		1	1	0	93	0	222	0	34	192
STX4	6810	broad.mit.edu	37	16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T	rs376316073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000313843.3	+	9	1121	c.806C>T	c.(805-807)gCg>gTg	p.A269V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.A267V	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	269	Interaction with CENPF. {ECO:0000250}.			A -> V (in Ref. 1; AAA20967). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587																																						ENST00000313843.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(805-807)gCg>gTg		syntaxin 4		C	VAL/ALA	0,4394		0,0,2197	149.0	128.0	135.0		806	6.1	1.0	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX4	NM_004604.3	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	269/298	31050965	1,12993	2197	4300	6497	SO:0001583	missense	6810	0	0					g.chr16:31050965C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.806C>T	chr16.hg19:g.31050965C>T	ENSP00000317714:p.Ala269Val	0					STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.A267V	p.A269V	NM_004604.3	NP_004595.2	1	2	3	2.056757	Q12846	STX4_HUMAN		9	1121	+			A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	1	1	hg19	c.806C>T	CCDS10700.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546054	0.86022	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.39406	1.08;1.26	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.102174	0.64402	D	0.000002	T	0.51109	0.1655	M	0.81682	2.555	0.46096	D	0.99886	D;D	0.64830	0.993;0.994	B;B	0.42030	0.373;0.198	T	0.60424	-0.7266	10	0.62326	D	0.03	-11.455	19.4349	0.94788	0.0:1.0:0.0:0.0	.	269;267	Q12846;A8MXY0	STX4_HUMAN;.	V	267;269	ENSP00000378447:A267V;ENSP00000317714:A269V	ENSP00000317714:A269V	A	+	2	0	0	STX4	30958466	30958466	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.379000	0.66196	2.894000	0.99253	0.655000	0.94253	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_004604			130	129		539	530	1		1	1		0	0	125	0		1	1	0	10	0	260	0	130	539
MMP25	64386	broad.mit.edu	37	16	3107048	3107048	+	Missense_Mutation	SNP	G	G	A	rs61747718	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3107048G>A	ENST00000336577.4	+	5	913	c.676G>A	c.(676-678)Gac>Aac	p.D226N	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	233					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGAGGGGACCGACCTGTTTGC	0.667													G|||	172	0.034345	0.1225	0.0144	5008	,	,		16582	0.0		0.0	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(676-678)Gac>Aac		matrix metallopeptidase 25	Marimastat(DB00786)	G	ASN/ASP	492,3902	225.2+/-241.2	28,436,1733	61.0	62.0	62.0		676	4.5	0.9	16	dbSNP_129	62	10,8590	7.1+/-27.0	0,10,4290	yes	missense	MMP25	NM_022468.4	23	28,446,6023	AA,AG,GG		0.1163,11.1971,3.8633	probably-damaging	226/563	3107048	502,12492	2197	4300	6497	SO:0001583	missense	64386	1347	121370	63				g.chr16:3107048G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.676G>A	chr16.hg19:g.3107048G>A	ENSP00000337816:p.Asp226Asn	0					RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA	p.D226N	NM_022468.4	NP_071913.1	1	2	3	2.056757	Q9H239	MMP28_HUMAN		5	913	+			Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	1	0	hg19	c.676G>A	CCDS10492.1	1	62	0.028388278388278388	56	0.11382113821138211	6	0.016574585635359115	0	0.0	0	0.0	g	18.51	3.638965	0.67130	0.111971	0.001163	ENSG00000008516	ENST00000336577	T	0.21191	2.02	4.48	4.48	0.54585	4.48	4.48	0.54585	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.238912	0.29139	N	0.013031	T	0.00552	0.0018	L	0.42245	1.32	0.19575	P	0.9999691773	D	0.76494	0.999	P	0.62298	0.9	T	0.01496	-1.1340	9	0.02654	T	1	.	14.677	0.68986	0.0:0.0:1.0:0.0	rs61747718	226	Q9NPA2	MMP25_HUMAN	N	226	ENSP00000337816:D226N	ENSP00000337816:D226N	D	+	1	0	0	MMP25	3047049	3047049	1.000000	0.71417	0.895000	0.35142	0.114000	0.19823	3.909000	0.56363	2.052000	0.61016	0.306000	0.20318	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	0	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-2.096472	0	0.170000	NM_022468			122	119		503	490	1		1	0		0	0	103	0		1	4.123337e-01	0	1	0	6	0	122	503
STX4	6810	broad.mit.edu	37	16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000313843.3	+	10	1168	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V283I	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	285	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602																																						ENST00000313843.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(853-855)Gtc>Atc		syntaxin 4							328.0	246.0	274.0					16																	31051083		2197	4300	6497	SO:0001583	missense	6810	2	121412	40				g.chr16:31051083G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.853G>A	chr16.hg19:g.31051083G>A	ENSP00000317714:p.Val285Ile	0					STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V283I	p.V285I	NM_004604.3	NP_004595.2	1	2	3	2.056757	Q12846	STX4_HUMAN		10	1168	+			A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	1	1	hg19	c.853G>A	CCDS10700.1	1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075803	0.01903	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.34667	1.35;1.55	6.08	1.95	0.26073	6.08	1.95	0.26073	.	0.454422	0.23652	N	0.045909	T	0.14442	0.0349	N	0.03281	-0.365	0.21553	N	0.999647	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28459	-1.0043	10	0.10636	T	0.68	-4.7427	11.2572	0.49060	0.2188:0.3492:0.432:0.0	.	285;283	Q12846;A8MXY0	STX4_HUMAN;.	I	283;285	ENSP00000378447:V283I;ENSP00000317714:V285I	ENSP00000317714:V285I	V	+	1	0	0	STX4	30958584	30958584	0.998000	0.40836	0.707000	0.30419	0.044000	0.14063	0.405000	0.21015	0.153000	0.19213	-0.882000	0.02950	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	0	0	1		2	2	2	0		0	0	204		204	203	1	2.060000	-20.000000	1	0.170000	NM_004604			218	215		913	888	1		1	1		0	0	204	0		1	1	0	78	0	300	0	218	913
ZNF668	79759	broad.mit.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1750-1752)gCc>gTc		zinc finger protein 668							62.0	64.0	64.0					16																	31072498		2197	4300	6497	SO:0001583	missense	79759	0	0					g.chr16:31072498G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>T	chr16.hg19:g.31072498G>A	ENSP00000440149:p.Ala584Val	0					ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V	p.A584V	NM_001172668.1	NP_001166139	1	2	3	2.056757	Q96K58	ZN668_HUMAN		3	2535	-			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	1	1	hg19	c.1751C>T	CCDS10701.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658554	0.67586	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.93	4.93	0.64822	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	N	0.14661	0.345	0.47476	D	0.99943	D	0.61080	0.989	P	0.57846	0.828	T	0.02736	-1.1117	10	0.27785	T	0.31	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	V	607;584;584;584;584	ENSP00000442573:A607V;ENSP00000441349:A584V;ENSP00000440149:A584V;ENSP00000378434:A584V;ENSP00000300849:A584V	ENSP00000300849:A584V	A	-	2	0	0	ZNF668	30979999	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	1	0	0		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_024706			151	150		506	502	1		1	1		0	0	112	0		1	9.999995e-01	0	18	0	53	0	151	506
ZNF668	79759	broad.mit.edu	37	16	31075549	31075549	+	Missense_Mutation	SNP	C	C	T	rs202118331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31075549C>T	ENST00000538906.1	-	2	1016	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTTGGCCGCGGAGCCTGAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16384	0.0		0.0	False		,,,				2504	0.0				Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1	1.000000	0.220000	1	3.000000e-01	0.410000	0.504336	0.410000	0.380000																										0				27						c.(232-234)Gcg>Acg		zinc finger protein 668							80.0	73.0	75.0					16																	31075549		2197	4300	6497	SO:0001583	missense	79759	1	121400	29				g.chr16:31075549C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.232G>A	chr16.hg19:g.31075549C>T	ENSP00000440149:p.Ala78Thr	0					ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T	p.A78T	NM_001172668.1	NP_001166139	1	2	3	2.056757	Q96K58	ZN668_HUMAN		2	1016	-			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	1	1	hg19	c.232G>A	CCDS10701.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.950	0.967889	0.18659	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.46819	3.21;3.22;3.22;3.22;3.22;3.1;0.86	4.77	2.63	0.31362	4.77	2.63	0.31362	.	0.424966	0.22156	N	0.063841	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31998	-0.9923	10	0.66056	D	0.02	-14.7359	10.7323	0.46104	0.1533:0.7108:0.1359:0.0	.	78	Q96K58	ZN668_HUMAN	T	101;78;78;78;78;78;78	ENSP00000442573:A101T;ENSP00000441349:A78T;ENSP00000440149:A78T;ENSP00000378434:A78T;ENSP00000300849:A78T;ENSP00000416853:A78T;ENSP00000390671:A78T	ENSP00000300849:A78T	A	-	1	0	0	ZNF668	30983050	30983050	0.004000	0.15560	0.009000	0.14445	0.057000	0.15508	1.151000	0.31651	1.324000	0.45282	0.561000	0.74099	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-12.440100	1	0.170000	NM_024706			13	13		401	393	0		1	1		0	0	55	0		9.994878e-01	4.307156e-01	0	3	0	41	0	13	401
ZNF646	9726	broad.mit.edu	37	16	31087864	31087864	+	Silent	SNP	C	C	T	rs544717319		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Silent_p.G73G|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627																																						ENST00000394979.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(217-219)ggC>ggT		zinc finger protein 646							101.0	61.0	75.0					16																	31087864		2197	4300	6497	SO:0001819	synonymous_variant	9726	0	0					g.chr16:31087864C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.219C>T	chr16.hg19:g.31087864C>T		0					ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Silent_p.G73G|ZNF668_ENST00000300849.4_5'Flank	p.G73G			1	2	3	2.056757	O15015	ZN646_HUMAN		1	642	+			Q8IVD8	Silent	SNP	ENST00000394979.2	1	1	hg19	c.219C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.625617	1	0.170000	NM_014699			71	71		276	273	1		1	1		0	0	56	0		1	9.924873e-01	0	5	0	27	0	71	276
ZNF646	9726	broad.mit.edu	37	16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597																																						ENST00000394979.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(706-708)Gag>Aag		zinc finger protein 646							53.0	53.0	53.0					16																	31088351		2197	4300	6497	SO:0001583	missense	9726	0	0					g.chr16:31088351G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.706G>A	chr16.hg19:g.31088351G>A	ENSP00000378429:p.Glu236Lys	0					ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K|ZNF668_ENST00000300849.4_5'Flank	p.E236K			1	2	3	2.056757	O15015	ZN646_HUMAN		1	1129	+			Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	1	1	hg19	c.706G>A		1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065241	0.76187	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979;ENST00000439353	T;T;T	0.34859	2.92;1.34;1.34	5.6	5.6	0.85130	5.6	5.6	0.85130	.	.	.	.	.	T	0.51890	0.1701	L	0.34521	1.04	0.37802	D	0.927732	D	0.76494	0.999	D	0.85130	0.997	T	0.57306	-0.7834	9	0.87932	D	0	-19.1463	18.3906	0.90481	0.0:0.0:1.0:0.0	.	236	O15015-2	.	K	236;236;236;1	ENSP00000391271:E236K;ENSP00000300850:E236K;ENSP00000378429:E236K	ENSP00000300850:E236K	E	+	1	0	0	ZNF646	30995852	30995852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.892000	0.56235	2.640000	0.89533	0.655000	0.94253	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_014699			65	64		219	212	1		1	1		0	0	59	0		1	9.935733e-01	0	6	0	23	0	65	219
ZNF646	9726	broad.mit.edu	37	16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532																																						ENST00000394979.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1738-1740)tGt>tAt		zinc finger protein 646							98.0	102.0	101.0					16																	31089384		2197	4300	6497	SO:0001583	missense	9726	0	0					g.chr16:31089384G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1739G>A	chr16.hg19:g.31089384G>A	ENSP00000378429:p.Cys580Tyr	0					ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y	p.C580Y			1	2	3	2.056757	O15015	ZN646_HUMAN		1	2162	+			Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	1	1	hg19	c.1739G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431314	0.62844	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	T	0.61739	0.2371	L	0.32530	0.975	0.43300	D	0.995291	D	0.67145	0.996	D	0.63192	0.912	T	0.64732	-0.6338	9	0.87932	D	0	-3.1242	17.6776	0.88235	0.0:0.0:1.0:0.0	.	580	O15015-2	.	Y	580	ENSP00000300850:C580Y;ENSP00000378429:C580Y	ENSP00000300850:C580Y	C	+	2	0	0	ZNF646	30996885	30996885	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.425000	0.44723	2.722000	0.93159	0.655000	0.94253	TGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_014699			58	57		319	309	1		1	1		0	0	86	0		1	9.593684e-01	0	4	0	27	0	58	319
PRSS53	339105	broad.mit.edu	37	16	31096484	31096484	+	Silent	SNP	G	G	A	rs371720280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	327	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667																																						ENST00000280606.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				4						c.(979-981)ggC>ggT		protease, serine, 53							22.0	27.0	26.0					16																	31096484		2076	4214	6290	SO:0001819	synonymous_variant	339105	8	120956	34				g.chr16:31096484G>A		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.981C>T	chr16.hg19:g.31096484G>A		0						p.G327G	NM_001039503.2	NP_001034592.1	1	2	3	2.056757	Q2L4Q9	PRS53_HUMAN		7	1134	-				Silent	SNP	ENST00000280606.6	1	1	hg19	c.981C>T	CCDS42153.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-13.696530	1	0.170000	NM_001081268			19	18		79	79	1		1	1		0	0	19	0		9.999951e-01	9.119717e-01	0	9	0	11	0	19	79
VKORC1	79001	broad.mit.edu	37	16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T	rs202194968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000394975.2	-	2	435	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000319788.7_Missense_Mutation_p.L70M|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	70					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592																																						ENST00000394975.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(208-210)Ctg>Atg		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						139.0	100.0	113.0					16																	31104708		2197	4300	6497	SO:0001583	missense	79001	0	0					g.chr16:31104708G>T		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.208C>A	chr16.hg19:g.31104708G>T	ENSP00000378426:p.Leu70Met	0					VKORC1_ENST00000319788.7_Missense_Mutation_p.L70M|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D	p.L70M	NM_024006.4	NP_076869.1	1	2	3	2.056757	Q9BQB6	VKOR1_HUMAN		2	435	-			A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	1	1	hg19	c.208C>A	CCDS10703.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901624|3.901624	0.72754|0.72754	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97303|0.98649	-4.33|-4.71;-5.05;-3.23	6.17|6.17	0.769|0.769	0.18492|0.18492	6.17|6.17	0.769|0.769	0.18492|0.18492	.|Vitamin K epoxide reductase (2);	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.98707|0.98707	0.9566|0.9566	M|M	0.78456|0.78456	2.415|2.415	0.24446|0.24446	N|N	0.994508|0.994508	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96014|0.96014	0.9004|0.9004	7|10	0.36615|0.62326	T|D	0.2|0.03	-2.9956|-2.9956	10.007|10.007	0.41964|0.41964	0.4261:0.0:0.5738:0.0|0.4261:0.0:0.5738:0.0	.|.	.|70;70	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	D|M	90;101;102|70	ENSP00000300851:A90D|ENSP00000326135:L70M;ENSP00000378426:L70M;ENSP00000431371:L70M	ENSP00000300851:A90D|ENSP00000431371:L70M	A|L	-|-	2|1	0|2	0|2	VKORC1|RP11-196G11.1;VKORC1	31012209|31012209	31012209|31012209	0.992000|0.992000	0.36948|0.36948	0.770000|0.770000	0.31555|0.31555	0.903000|0.903000	0.53119|0.53119	0.200000|0.200000	0.17257|0.17257	-0.055000|-0.055000	0.13244|0.13244	0.655000|0.655000	0.94253|0.94253	GCT|CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_024006			68	65		288	284	1		1	1		0	0	70	0		1	1	0	132	0	595	0	68	288
VKORC1	79001	broad.mit.edu	37	16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000394975.2	-	2	415	c.188T>C	c.(187-189)tTc>tCc	p.F63S	VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000319788.7_Missense_Mutation_p.F63S|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000300851.6_Silent_p.F83F|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557																																						ENST00000394975.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(187-189)tTc>tCc		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						101.0	77.0	85.0					16																	31104728		2197	4300	6497	SO:0001583	missense	79001	0	0					g.chr16:31104728A>G		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.188T>C	chr16.hg19:g.31104728A>G	ENSP00000378426:p.Phe63Ser	0					VKORC1_ENST00000319788.7_Missense_Mutation_p.F63S|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000498155.1_Silent_p.F95F	p.F63S	NM_024006.4	NP_076869.1	1	2	3	2.056757	Q9BQB6	VKOR1_HUMAN		2	415	-			A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	1	1	hg19	c.188T>C	CCDS10703.1	1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743712	0.89663	.	.	ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000319788;ENST00000394975;ENST00000529564	D;D;D	0.98717	-5.09;-5.09;-5.09	6.08	6.08	0.98989	6.08	6.08	0.98989	Vitamin K epoxide reductase (2);	0.000000	0.64402	D	0.000002	D	0.99162	0.9710	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99556	1.0967	10	0.87932	D	0	-42.7049	15.6264	0.76863	1.0:0.0:0.0:0.0	.	63;63	Q9BQB6-2;Q9BQB6	.;VKOR1_HUMAN	S	63	ENSP00000326135:F63S;ENSP00000378426:F63S;ENSP00000431371:F63S	ENSP00000431371:F63S	F	-	2	0	0	RP11-196G11.1;VKORC1	31012229	31012229	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.469000	0.80959	2.333000	0.79357	0.533000	0.62120	TTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_024006			53	52		248	245	1		1	1		0	0	63	0		1	1	0	90	0	396	0	53	248
IL32	9235	broad.mit.edu	37	16	3117423	3117423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	ENST00000534507.1	+	3	272	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_ENST00000382213.3_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000552936.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000549213.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000530538.2_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000529550.1_Intron			P24001	IL32_HUMAN	interleukin 32	21					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AATGGTAATGCTCCTCCCTAC	0.567																																						ENST00000534507.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(61-63)Ctc>Ttc		interleukin 32							139.0	124.0	129.0					16																	3117423		2197	4300	6497	SO:0001583	missense	9235	0	0					g.chr16:3117423C>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.61C>T	chr16.hg19:g.3117423C>T	ENSP00000431775:p.Leu21Phe	0					IL32_ENST00000396887.3_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000530890.1_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000530538.2_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000533097.2_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000552664.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000008180.9_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000549213.1_Intron	p.L21F			1	2	3	2.056757	P24001	IL32_HUMAN		3	272	+			A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	1	1	hg19	c.61C>T		1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170705	0.38315	.	.	ENSG00000008517	ENST00000534507;ENST00000548807;ENST00000396890;ENST00000525377;ENST00000548476;ENST00000551513	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	2.13	-1.14	0.09741	2.13	-1.14	0.09741	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B;B;B	0.29612	0.034;0.034;0.251	B;B;B	0.31245	0.061;0.061;0.126	T	0.20207	-1.0282	7	.	.	.	.	2.7767	0.05349	0.0:0.4225:0.2516:0.3259	.	21;21;21	F8VSD2;E9PIV2;P24001	.;.;IL32_HUMAN	F	21	ENSP00000431775:L21F;ENSP00000448354:L21F;ENSP00000380099:L21F;ENSP00000433866:L21F;ENSP00000449483:L21F;ENSP00000449147:L21F	.	L	+	1	0	0	IL32	3057424	3057424	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.226000	0.09899	0.551000	0.68910	CTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	0	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_004221			128	124		515	497	1		1	1		0	0	127	0		1	1	0	23	0	122	0	128	515
PRSS36	146547	broad.mit.edu	37	16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	227	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617																																						ENST00000268281.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(679-681)Ctg>Atg		protease, serine, 36							67.0	68.0	68.0					16																	31157151		2197	4300	6497	SO:0001583	missense	146547	0	0					g.chr16:31157151G>T	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.679C>A	chr16.hg19:g.31157151G>T	ENSP00000268281:p.Leu227Met	0					PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M|PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M	p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	1	2	3	2.056757	Q5K4E3	POLS2_HUMAN		6	737	-			A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	1	1	hg19	c.679C>A	CCDS32436.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414918	0.62511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.90385	-2.66;-2.66	5.45	0.754	0.18410	5.45	0.754	0.18410	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90943	0.7153	L	0.48174	1.505	0.40839	D	0.983656	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.87075	0.2162	9	0.36615	T	0.2	.	5.5116	0.16884	0.1691:0.0:0.5682:0.2627	.	227;227;227	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	227	ENSP00000268281:L227M;ENSP00000407160:L227M	ENSP00000268281:L227M	L	-	1	2	2	PRSS36	31064652	31064652	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	0.165000	0.16564	0.658000	0.30925	0.491000	0.48974	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_173502			91	89		428	419	1		1	0		0	0	93	0		1	2.154758e-01	0	0	0	5	0	91	428
FUS	2521	broad.mit.edu	37	16	31202336	31202336	+	Silent	SNP	C	C	T	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G483G|FUS_ENST00000380244.3_Silent_p.G481G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	482	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16p11.2	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""				"""M, L"""	M, L	DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1		liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				22						c.(1444-1446)ggC>ggT		FUS RNA binding protein							47.0	57.0	54.0					16																	31202336		2196	4300	6496	SO:0001819	synonymous_variant	2521	0	0					g.chr16:31202336C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1446C>T	chr16.hg19:g.31202336C>T		0					FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000568685.1_Silent_p.G483G	p.G482G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	1	2	3	2.056757	P35637	FUS_HUMAN		14	1551	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	Q9H4A8	Silent	SNP	ENST00000254108.7	1	1	hg19	c.1446C>T	CCDS10707.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_004960			110	102		508	499	1		1	1		0	0	101	0		1	1	0	73	0	178	0	110	508
ITGAM	3684	broad.mit.edu	37	16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000287497.8	+	12	1328	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000544665.3_Missense_Mutation_p.S418N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	418					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)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587																																						ENST00000287497.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.998641	0.990000	1.000000																										0				56						c.(1252-1254)aGc>aAc		integrin, alpha M (complement component 3 receptor 3 subunit)							44.0	45.0	45.0					16																	31289327		2042	4183	6225	SO:0001583	missense	3684	0	0					g.chr16:31289327G>A	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.1253G>A	chr16.hg19:g.31289327G>A	ENSP00000287497:p.Ser418Asn	0					ITGAM_ENST00000544665.3_Missense_Mutation_p.S418N	p.S418N			1	2	3	2.056757	P11215	ITAM_HUMAN		12	1328	+			Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	1	1	hg19	c.1253G>A	CCDS45470.1	1	.	.	.	.	.	.	.	.	.	.	G	7.835	0.720633	0.15372	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.75	-2.93	0.05598	4.75	-2.93	0.05598	.	.	.	.	.	T	0.14013	0.0339	L	0.43554	1.36	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.38672	-0.9650	9	0.16896	T	0.51	.	6.729	0.23373	0.4375:0.1202:0.4423:0.0	.	418;418	Q4VAK1;P11215	.;ITAM_HUMAN	N	418	ENSP00000441691:S418N;ENSP00000287497:S418N	ENSP00000287497:S418N	S	+	2	0	0	ITGAM	31196828	31196828	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.896000	0.04114	-0.948000	0.03668	-2.236000	0.00289	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.518840	1	0.170000	NM_000632			10	10		44	44	1		1	1		0	0	15	0		9.977981e-01	9.991467e-01	0	2	0	62	0	10	44
ITGAX	3687	broad.mit.edu	37	16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	596					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)			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						ACCTCACCCAGGATGGACTGG	0.652																																						ENST00000268296.4	1.000000	0.550000	1	6.600000e-01	0.790000	0.810793	0.790000	1.000000																										0				77						c.(1786-1788)caG>caT		integrin, alpha X (complement component 3 receptor 4 subunit)							50.0	56.0	54.0					16																	31382482		2197	4300	6497	SO:0001583	missense	3687	0	0					g.chr16:31382482G>T	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.1788G>T	chr16.hg19:g.31382482G>T	ENSP00000268296:p.Gln596His	0					ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	p.Q596H	NM_000887.3	NP_000878.2	1	2	3	2.056757	P20702	ITAX_HUMAN		15	1909	+			Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	1	1	hg19	c.1788G>T	CCDS10711.1	0	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106802	0.37145	.	.	ENSG00000140678	ENST00000268296	T	0.55588	0.51	5.39	4.44	0.53790	5.39	4.44	0.53790	.	.	.	.	.	T	0.43722	0.1260	L	0.41961	1.31	0.28191	N	0.927758	B	0.13145	0.007	B	0.11329	0.006	T	0.36089	-0.9762	9	0.42905	T	0.14	.	8.4724	0.32993	0.1767:0.0:0.8233:0.0	.	596	P20702	ITAX_HUMAN	H	596	ENSP00000268296:Q596H	ENSP00000268296:Q596H	Q	+	3	2	2	ITGAX	31289983	31289983	0.989000	0.36119	0.873000	0.34254	0.857000	0.48899	1.990000	0.40717	1.390000	0.46547	0.655000	0.94253	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-3.221889	1	0.170000	NM_000887			36	36		532	527	0		1	0		0	0	107	0		1	9.453410e-01	0	0	0	73	0	36	532
ZSCAN10	84891	broad.mit.edu	37	16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	580					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721																																						ENST00000252463.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				24						c.(1738-1740)cGc>cAc		zinc finger and SCAN domain containing 10							13.0	14.0	13.0					16																	3139531		2186	4268	6454	SO:0001583	missense	84891	0	0					g.chr16:3139531C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1739G>A	chr16.hg19:g.3139531C>T	ENSP00000252463:p.Arg580His	0					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|RP11-473M20.9_ENST00000571404.1_lincRNA	p.R580H	NM_032805.1	NP_116194.1	1	2	3	2.056757	Q96SZ4	ZSC10_HUMAN		5	1826	-			B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	1	1	hg19	c.1739G>A	CCDS10493.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894870	0.52121	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.37411	1.2	5.34	5.34	0.76211	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136846	0.34067	N	0.004290	T	0.40040	0.1101	N	0.16708	0.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.63703	0.917;0.916;0.877	T	0.33879	-0.9851	10	0.62326	D	0.03	-34.0564	11.6059	0.51031	0.1779:0.8221:0.0:0.0	.	241;513;580	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	513;580	ENSP00000252463:R580H	ENSP00000252463:R580H	R	-	2	0	0	ZSCAN10	3079532	3079532	0.000000	0.05858	1.000000	0.80357	0.900000	0.52787	-1.643000	0.02004	2.504000	0.84457	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	1	0	1		2	2	2	0		0	0	22		22	19	1	2.060000	-20.000000	1	0.170000	NM_032805			28	26		140	138	1		1			0	0	22	0		1	0	0	0	0	0	0	28	140
ITGAX	3687	broad.mit.edu	37	16	31383786	31383786	+	Missense_Mutation	SNP	C	C	T	rs139559004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31383786C>T	ENST00000268296.4	+	18	2369	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ITGAX_ENST00000562522.1_Missense_Mutation_p.R750W	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	750					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)			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						CAGAAACCTGCGGCCTATGCT	0.642													C|||	5	0.000998403	0.0	0.0014	5008	,	,		15587	0.001		0.003	False		,,,				2504	0.0					ENST00000268296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2248-2250)Cgg>Tgg		integrin, alpha X (complement component 3 receptor 4 subunit)		C	TRP/ARG	1,4391	2.1+/-5.4	0,1,2195	56.0	52.0	53.0		2248	3.7	0.1	16	dbSNP_134	53	12,8588	9.1+/-34.3	0,12,4288	yes	missense	ITGAX	NM_000887.3	101	0,13,6483	TT,TC,CC		0.1395,0.0228,0.1001	probably-damaging	750/1164	31383786	13,12979	2196	4300	6496	SO:0001583	missense	3687	255	121412	55				g.chr16:31383786C>T	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.2248C>T	chr16.hg19:g.31383786C>T	ENSP00000268296:p.Arg750Trp	0					ITGAX_ENST00000562522.1_Missense_Mutation_p.R750W	p.R750W	NM_000887.3	NP_000878.2	1	2	3	2.056757	P20702	ITAX_HUMAN		18	2369	+			Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	1	0	hg19	c.2248C>T	CCDS10711.1	1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	20.8	4.048045	0.75846	2.28E-4	0.001395	ENSG00000140678	ENST00000268296	T	0.47869	0.83	4.69	3.71	0.42584	4.69	3.71	0.42584	Integrin alpha-2 (1);	.	.	.	.	T	0.51534	0.1680	M	0.67700	2.07	0.24917	N	0.992006	D	0.89917	1.0	P	0.56612	0.802	T	0.49351	-0.8949	9	0.72032	D	0.01	.	11.6127	0.51069	0.1787:0.8213:0.0:0.0	.	750	P20702	ITAX_HUMAN	W	750	ENSP00000268296:R750W	ENSP00000268296:R750W	R	+	1	2	2	ITGAX	31291287	31291287	0.000000	0.05858	0.117000	0.21633	0.320000	0.28249	0.223000	0.17719	1.268000	0.44264	0.467000	0.42956	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.238651	1	0.170000	NM_000887			79	77		379	370	1		1	0		0	0	76	0		1	9.999908e-01	0	0	0	82	0	79	379
ZSCAN10	84891	broad.mit.edu	37	16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W|ZSCAN10_ENST00000575108.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	4	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)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657																																						ENST00000252463.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(10-12)Cgg>Tgg		zinc finger and SCAN domain containing 10							10.0	12.0	12.0					16																	3142764		2192	4289	6481	SO:0001583	missense	84891	0	0					g.chr16:3142764G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.10C>T	chr16.hg19:g.3142764G>A	ENSP00000252463:p.Arg4Trp	0					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	p.R4W	NM_032805.1	NP_116194.1	1	2	3	2.056757	Q96SZ4	ZSC10_HUMAN		1	97	-			B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	1	1	hg19	c.10C>T	CCDS10493.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741812|1.741812	0.30865|0.30865	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000252463|ENST00000538082	T|.	0.05580|.	3.42|.	5.39|5.39	0.17|0.17	0.15021|0.15021	5.39|5.39	0.17|0.17	0.15021|0.15021	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);|.	0.145945|.	0.31279|.	N|.	0.007926|.	T|T	0.55465|0.55465	0.1922|0.1922	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	D|B	0.69078|0.28055	0.997|0.199	P|B	0.58077|0.25140	0.832|0.058	T|T	0.52815|0.52815	-0.8525|-0.8525	10|8	0.87932|0.42905	D|T	0|0.14	-39.5061|-39.5061	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.4185:0.5815|0.0:0.0:0.4185:0.5815	.|.	4|26	Q96SZ4|Q1WWM2	ZSC10_HUMAN|.	W|M	4|26	ENSP00000252463:R4W|.	ENSP00000252463:R4W|ENSP00000440047:T26M	R|T	-|-	1|2	2|0	2|0	ZSCAN10|ZSCAN10	3082765|3082765	3082765|3082765	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.116000|-0.116000	0.10724|0.10724	0.156000|0.156000	0.19299|0.19299	-0.277000|-0.277000	0.10078|0.10078	CGG|ACG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_032805			24	24		79	77	0		1			0	0	16	0		9.999999e-01	0	0	0	0	0	0	24	79
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					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)			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						GGGGCCCCCCGCTACCAGCAT	0.642																																						ENST00000389202.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1273-1275)cGc>cAc		integrin, alpha D							39.0	39.0	39.0					16																	31422117		2197	4300	6497	SO:0001583	missense	3681	1	121412	35				g.chr16:31422117G>A	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.1274G>A	chr16.hg19:g.31422117G>A	ENSP00000373854:p.Arg425His	0						p.R425H	NM_005353.2	NP_005344.2	1	2	3	2.056757	Q13349	ITAD_HUMAN		12	1323	+			Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	1	1	hg19	c.1274G>A	CCDS32438.1	1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	0	ITGAD	31329618	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.355185	1	0.170000	NM_005353			71	69		297	288	0		1			0	0	57	0		1	0	0	0	0	0	0	71	297
ARMC5	79798	broad.mit.edu	37	16	31478178	31478178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31478178G>T	ENST00000563544.1	+	7	3322	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.G1021W			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	926										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTGGTGATGGGGATTGAGTT	0.637																																						ENST00000563544.1	1.000000	0.360000	1	5.600000e-01	0.850000	0.806233	0.850000	1.000000																										0				28						c.(2776-2778)Ggg>Tgg		armadillo repeat containing 5							32.0	39.0	36.0					16																	31478178		2018	4170	6188	SO:0001583	missense	79798	0	0					g.chr16:31478178G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2776G>T	chr16.hg19:g.31478178G>T	ENSP00000456877:p.Gly926Trp	0					ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.G1021W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W	p.G926W			1	2	3	2.056757	Q96C12	ARMC5_HUMAN		7	3322	+			Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	0	1	hg19	c.2776G>T	CCDS45472.1	1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682392	0.68157	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.59502	1.29;1.43;1.52;0.26	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	N	0.14661	0.345	0.45161	D	0.998174	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	0.66252	-0.5970	10	0.87932	D	0	-30.0352	13.8303	0.63377	0.0:0.0:1.0:0.0	.	958;958;1021;926	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	W	1021;958;926;570	ENSP00000386125:G1021W;ENSP00000443995:G958W;ENSP00000268314:G926W;ENSP00000400183:G570W	ENSP00000268314:G926W	G	+	1	0	0	ARMC5	31385679	31385679	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.971000	0.63749	2.636000	0.89361	0.448000	0.29417	GGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-11.515030	1	0.170000	NM_024742			7	7		105	104	0		1	1		0	0	19	0		9.811207e-01	5.296047e-01	0	3	0	23	0	7	105
SLC5A2	6524	broad.mit.edu	37	16	31499495	31499495	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CTGTACCCAGGTAACATCCCT	0.627																																						ENST00000330498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.e8+1		solute carrier family 5 (sodium/glucose cotransporter), member 2	Canagliflozin(DB08907)|Dapagliflozin(DB06292)						113.0	110.0	111.0					16																	31499495		2197	4300	6497	SO:0001630	splice_region_variant	6524	0	0					g.chr16:31499495G>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1021+1G>T	chr16.hg19:g.31499495G>T		0					AC026471.6_ENST00000565137.1_RNA		NM_003041.3	NP_003032.1	1	2	3	2.056757	P31639	SC5A2_HUMAN		8	1040	+			A2RRD2	Splice_Site	SNP	ENST00000330498.3	1	1	hg19		CCDS10714.1	1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.681357	0.29872	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9502	0.64111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SLC5A2	31406996	31406996	1.000000	0.71417	0.940000	0.37924	0.083000	0.17756	9.409000	0.97331	2.136000	0.66102	0.457000	0.33378	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	0	0	1		2	2	2	0		0	0	187		187	184	1	2.060000	-20.000000	1	0.170000		Intron		161	160		765	753	1		1			0	0	187	0		1	0	0	0	0	0	0	161	765
ZNF205	7755	broad.mit.edu	37	16	3170128	3170128	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	489					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)			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						GCCACAGCTCGCACCTCACCG	0.677																																						ENST00000382192.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1465-1467)tcG>tcA		zinc finger protein 205							94.0	82.0	86.0					16																	3170128		2197	4300	6497	SO:0001819	synonymous_variant	7755	0	0					g.chr16:3170128G>A	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.1467G>A	chr16.hg19:g.3170128G>A		0					RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	1	2	3	2.056757	O95201	ZN205_HUMAN		7	1672	+			A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	1	1	hg19	c.1467G>A	CCDS10494.2	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_003456			120	119		503	499	1		1	1		0	0	99	0		1	9.970751e-01	0	16	0	23	0	120	503
ZNF213	7760	broad.mit.edu	37	16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000571449.1_RNA|RP11-473M20.14_ENST00000575089.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	39					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622																																						ENST00000396878.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(115-117)aGg>aTg		zinc finger protein 213							39.0	41.0	40.0					16																	3187397		2197	4298	6495	SO:0001583	missense	7760	0	0					g.chr16:3187397G>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.116G>T	chr16.hg19:g.3187397G>T	ENSP00000380087:p.Arg39Met	0					RP11-473M20.14_ENST00000575089.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA	p.R39M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	1	2	3	2.056757	O14771	ZN213_HUMAN		2	591	+			A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	1	1	hg19	c.116G>T	CCDS10495.1	1	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335251	0.11013	.	.	ENSG00000085644	ENST00000396878	T	0.05717	3.4	5.12	1.98	0.26296	5.12	1.98	0.26296	Retrovirus capsid, C-terminal (1);	0.760921	0.11583	N	0.549599	T	0.10380	0.0254	L	0.43152	1.355	0.09310	N	1	P	0.52577	0.954	P	0.52109	0.69	T	0.21930	-1.0231	10	0.66056	D	0.02	.	6.7552	0.23510	0.189:0.184:0.627:0.0	.	39	O14771	ZN213_HUMAN	M	39	ENSP00000380087:R39M	ENSP00000380087:R39M	R	+	2	0	0	ZNF213	3127398	3127398	0.000000	0.05858	0.350000	0.25708	0.663000	0.39108	0.087000	0.14958	0.581000	0.29539	-0.140000	0.14226	AGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.771377	1	0.170000	NM_004220			60	59		300	294	1		1	1		0	0	78	0		1	9.718792e-01	0	6	0	25	0	60	300
ZNF213	7760	broad.mit.edu	37	16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657																																						ENST00000396878.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1261-1263)cGt>cAt		zinc finger protein 213							41.0	42.0	41.0					16																	3191230		2196	4299	6495	SO:0001583	missense	7760	0	0					g.chr16:3191230G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1262G>A	chr16.hg19:g.3191230G>A	ENSP00000380087:p.Arg421His	0					ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H	p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	1	2	3	2.056757	O14771	ZN213_HUMAN		6	1737	+			A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	1	1	hg19	c.1262G>A	CCDS10495.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083241	0.76642	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.54159	0.1841	M	0.81112	2.525	0.37749	D	0.925892	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.87932	D	0	.	15.9873	0.80168	0.0:0.0:1.0:0.0	.	421	O14771	ZN213_HUMAN	H	421;263	ENSP00000380087:R421H;ENSP00000403892:R263H	ENSP00000380087:R421H	R	+	2	0	0	ZNF213	3131231	3131231	0.004000	0.15560	0.958000	0.39756	0.981000	0.71138	1.334000	0.33827	2.365000	0.80145	0.462000	0.41574	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_004220			83	82		314	308	1		1	1		0	0	74	0		1	9.655317e-01	0	8	0	15	0	83	314
SLC5A2	6524	broad.mit.edu	37	16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	639					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCCAGGCGGCTGGAGGAC	0.647																																						ENST00000330498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1915-1917)cGg>cAg		solute carrier family 5 (sodium/glucose cotransporter), member 2	Canagliflozin(DB08907)|Dapagliflozin(DB06292)						33.0	35.0	34.0					16																	31501753		2197	4300	6497	SO:0001583	missense	6524	0	0					g.chr16:31501753G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1916G>A	chr16.hg19:g.31501753G>A	ENSP00000327943:p.Arg639Gln	0					C16orf58_ENST00000570164.1_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR	p.R639Q	NM_003041.3	NP_003032.1	1	2	3	2.056757	P31639	SC5A2_HUMAN		14	1935	+			A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	1	1	hg19	c.1916G>A	CCDS10714.1	1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768689	0.49680	.	.	ENSG00000140675	ENST00000330498	D	0.92647	-3.08	5.39	-2.0	0.07433	5.39	-2.0	0.07433	.	0.715087	0.13852	N	0.358262	D	0.84750	0.5541	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.69339	-0.5171	10	0.25106	T	0.35	.	9.7626	0.40541	0.7106:0.0:0.2894:0.0	.	639	P31639	SC5A2_HUMAN	Q	639	ENSP00000327943:R639Q	ENSP00000327943:R639Q	R	+	2	0	0	SLC5A2	31409254	31409254	0.000000	0.05858	0.991000	0.47740	0.781000	0.44180	-0.391000	0.07323	-0.193000	0.10415	-0.254000	0.11334	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000				40	39		112	112	0		1	1		0	0	18	0		1	1	0	67	0	162	0	40	112
ZNF267	10308	broad.mit.edu	37	16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	99					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373																																						ENST00000300870.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(295-297)atA>atG		zinc finger protein 267							94.0	93.0	94.0					16																	31925867		2197	4300	6497	SO:0001583	missense	10308	0	0					g.chr16:31925867A>G	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.297A>G	chr16.hg19:g.31925867A>G	ENSP00000300870:p.Ile99Met	0					ZNF267_ENST00000394846.3_3'UTR	p.I99M	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	1	2	3	2.056757	Q14586	ZN267_HUMAN		4	506	+			A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	1	1	hg19	c.297A>G	CCDS32440.1	1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128715	0.06753	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.08102	3.13	0.593	-1.19	0.09585	0.593	-1.19	0.09585	.	.	.	.	.	T	0.08980	0.0222	L	0.41492	1.28	0.09310	N	1	P	0.51240	0.943	P	0.52598	0.703	T	0.19289	-1.0310	9	0.24483	T	0.36	.	1.5643	0.02601	0.3561:0.3213:0.0:0.3226	.	99	Q14586	ZN267_HUMAN	M	99;66	ENSP00000300870:I99M	ENSP00000300870:I99M	I	+	3	3	3	ZNF267	31833368	31833368	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	-0.489000	0.06490	-0.548000	0.06199	0.254000	0.18369	ATA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_003414			100	100		358	348	1		1	1		0	0	78	0		1	9.999994e-01	0	23	0	53	0	100	358
ZNF267	10308	broad.mit.edu	37	16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	386					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363																																						ENST00000300870.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1156-1158)aGc>aAc		zinc finger protein 267							71.0	79.0	76.0					16																	31926727		2197	4300	6497	SO:0001583	missense	10308	0	0					g.chr16:31926727G>A	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.1157G>A	chr16.hg19:g.31926727G>A	ENSP00000300870:p.Ser386Asn	0						p.S386N	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	1	2	3	2.056757	Q14586	ZN267_HUMAN		4	1366	+			A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	1	1	hg19	c.1157G>A	CCDS32440.1	1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827568	0.16749	.	.	ENSG00000185947	ENST00000300870	T	0.15017	2.46	0.458	0.458	0.16670	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.20845	0.615	0.80722	D	1	B	0.31931	0.347	B	0.17722	0.019	T	0.21109	-1.0255	9	0.72032	D	0.01	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	386	Q14586	ZN267_HUMAN	N	386	ENSP00000300870:S386N	ENSP00000300870:S386N	S	+	2	0	0	ZNF267	31834228	31834228	0.989000	0.36119	0.055000	0.19348	0.050000	0.14768	0.778000	0.26732	0.482000	0.27582	0.484000	0.47621	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_003414			108	106		365	351	1		1	1		0	0	90	0		1	9.989404e-01	0	6	0	31	0	108	365
ZNF267	10308	broad.mit.edu	37	16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	540					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343																																						ENST00000300870.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				41						c.(1618-1620)aGa>aTa		zinc finger protein 267							37.0	41.0	40.0					16																	31927189		2197	4299	6496	SO:0001583	missense	10308	0	0					g.chr16:31927189G>T	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.1619G>T	chr16.hg19:g.31927189G>T	ENSP00000300870:p.Arg540Ile	0						p.R540I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	1	2	3	2.056757	Q14586	ZN267_HUMAN		4	1828	+			A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	1	1	hg19	c.1619G>T	CCDS32440.1	1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674609	0.14841	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.458	0.458	0.16670	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.44359	0.447	T	0.50162	-0.8860	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	540	Q14586	ZN267_HUMAN	I	540	ENSP00000300870:R540I	ENSP00000300870:R540I	R	+	2	0	0	ZNF267	31834690	31834690	0.000000	0.05858	0.108000	0.21378	0.095000	0.18619	0.278000	0.18753	0.482000	0.27582	0.484000	0.47621	AGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003414			41	39		230	226	1		1	1		0	0	33	0		1	9.852224e-01	0	5	0	35	0	41	230
ARHGDIG	398	broad.mit.edu	37	16	331765	331765	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	ENST00000219409.3	+	2	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	31					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGACAAGGAGGGTGGGCCGC	0.701																																						ENST00000219409.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999912	0.990000	1.000000																										0				3						c.(91-93)gaG>gaA		Rho GDP dissociation inhibitor (GDI) gamma							8.0	9.0	9.0					16																	331765		2130	4224	6354	SO:0001819	synonymous_variant	398	0	0					g.chr16:331765G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.93G>A	chr16.hg19:g.331765G>A		0					PDIA2_ENST00000404312.1_5'Flank|PDIA2_ENST00000219406.6_5'Flank	p.E31E	NM_001176.3	NP_001167.2	1	2	3	2.056757	Q99819	GDIR3_HUMAN		2	168	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	0	1	hg19	c.93G>A	CCDS10404.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1	0	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000				18	18		81	79	0		1	1		0	0	15	0		9.999886e-01	1.659252e-01	0	2	0	2	0	18	81
PDIA2	64714	broad.mit.edu	37	16	335387	335387	+	Missense_Mutation	SNP	C	C	T	rs201912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	291					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667													c|||	2	0.000399361	0.0008	0.0	5008	,	,		11520	0.0		0.001	False		,,,				2504	0.0					ENST00000219406.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(871-873)Cgg>Tgg		protein disulfide isomerase family A, member 2			TRP/ARG	2,3958		0,2,1978	30.0	33.0	32.0		871	-5.2	0.6	16	dbSNP_134	32	2,8310		0,2,4154	yes	missense	PDIA2	NM_006849.2	101	0,4,6132	TT,TC,CC		0.0241,0.0505,0.0326	probably-damaging	291/526	335387	4,12268	1980	4156	6136	SO:0001583	missense	64714	9	120714	36				g.chr16:335387C>T	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.871C>T	chr16.hg19:g.335387C>T	ENSP00000219406:p.Arg291Trp	0					PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W|PDIA2_ENST00000462950.1_3'UTR	p.R291W	NM_006849.2	NP_006840.2	1	2	3	2.056757	Q13087	PDIA2_HUMAN		6	889	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	1	1	hg19	c.871C>T	CCDS42089.1	1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398440	0.25205	5.05E-4	2.41E-4	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14893	2.47;2.47	3.87	-5.16	0.02857	3.87	-5.16	0.02857	Thioredoxin-like fold (1);	0.825023	0.10819	N	0.630708	T	0.25865	0.0630	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.58970	0.849	T	0.30031	-0.9992	10	0.87932	D	0	.	12.8524	0.57864	0.1846:0.7175:0.0:0.0979	.	291	Q13087	PDIA2_HUMAN	W	291;260;288	ENSP00000219406:R291W;ENSP00000384410:R288W	ENSP00000219406:R291W	R	+	1	2	2	PDIA2	275388	275388	0.012000	0.17670	0.622000	0.29159	0.059000	0.15707	0.974000	0.29436	-0.593000	0.05844	-0.509000	0.04479	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	1	0	1		2	2	2	0		0	0	32		32	29	1	2.060000	-20.000000	1	0.170000	NM_006849			54	54		170	166	1		1	0		0	0	32	0		1	9.998132e-01	0	1	0	43	0	54	170
AXIN1	8312	broad.mit.edu	37	16	347979	347979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.A509A	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	509	Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706																																						ENST00000262320.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				221						c.(1525-1527)gcC>gcT		axin 1							44.0	35.0	38.0					16																	347979		2198	4297	6495	SO:0001819	synonymous_variant	8312	2	120442	23				g.chr16:347979G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1527C>T	chr16.hg19:g.347979G>A		0					AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	p.A509A	NM_003502.3	NP_003493.1	1	2	3	2.056757	O15169	AXIN1_HUMAN		6	1898	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	1	1	hg19	c.1527C>T	CCDS10405.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000				24	23		97	94	1		1	1		0	0	25	1		9.999998e-01	9.974313e-01	0	23	0	19	0	24	97
AXIN1	8312	broad.mit.edu	37	16	360044	360044	+	Missense_Mutation	SNP	G	G	A	rs369325988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.R349C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617																																						ENST00000262320.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999514	0.990000	1.000000																										1	Substitution - Missense(1)	p.R349C(1)	liver(1)	221						c.(1045-1047)Cgt>Tgt		axin 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79.0	51.0	60.0		1045,1045	4.8	0.9	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	349/863,349/827	360044	1,13005	2203	4300	6503	SO:0001583	missense	8312	2	121334	26				g.chr16:360044G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1045C>T	chr16.hg19:g.360044G>A	ENSP00000262320:p.Arg349Cys	0					AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	p.R349C	NM_003502.3	NP_003493.1	1	2	3	2.056757	O15169	AXIN1_HUMAN		4	1416	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	1	1	hg19	c.1045C>T	CCDS10405.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010028	0.54361	0.0	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82893	-1.66;-1.66	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.057737	0.64402	D	0.000001	D	0.89111	0.6622	M	0.78801	2.425	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.55087	0.768;0.667	D	0.91021	0.4857	10	0.87932	D	0	14.04	17.9962	0.89185	0.0:0.0:1.0:0.0	.	349;349	O15169-2;O15169	.;AXIN1_HUMAN	C	349	ENSP00000262320:R349C;ENSP00000346935:R349C	ENSP00000262320:R349C	R	-	1	0	0	AXIN1	300045	300045	1.000000	0.71417	0.939000	0.37840	0.174000	0.22865	7.486000	0.81215	2.257000	0.74773	0.456000	0.33151	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000				16	16		83	80	1		1	1		0	0	33	0		9.999474e-01	9.999871e-01	0	42	0	71	0	16	83
MRPL28	10573	broad.mit.edu	37	16	419132	419132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	126					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547																																						ENST00000199706.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(376-378)aCt>aTt		mitochondrial ribosomal protein L28							203.0	152.0	170.0					16																	419132		2203	4300	6503	SO:0001583	missense	10573	0	0					g.chr16:419132G>A	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.377C>T	chr16.hg19:g.419132G>A	ENSP00000199706:p.Thr126Ile	0					MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I|MRPL28_ENST00000429738.1_Intron	p.T126I	NM_006428.4	NP_006419.2	1	2	3	2.056757	Q13084	RM28_HUMAN		3	412	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	ENST00000199706.8	1	1	hg19	c.377C>T	CCDS32349.1	1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838861	0.16891	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33438	1.82;1.82;1.83;1.42;1.41	4.35	2.24	0.28232	4.35	2.24	0.28232	.	0.156920	0.56097	D	0.000032	T	0.31575	0.0801	M	0.69823	2.125	0.49798	D	0.999828	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.35510	0.204;0.204;0.204	T	0.31916	-0.9926	10	0.66056	D	0.02	-21.5801	10.7298	0.46089	0.1878:0.0:0.8122:0.0	.	126;126;126	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	I	126	ENSP00000199706:T126I;ENSP00000374326:T126I;ENSP00000398684:T126I;ENSP00000390399:T126I;ENSP00000395305:T126I	ENSP00000199706:T126I	T	-	2	0	0	MRPL28	359133	359133	1.000000	0.71417	0.068000	0.19968	0.002000	0.02628	4.373000	0.59537	1.061000	0.40601	-0.136000	0.14681	ACT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000				78	78		330	322	1		1	1		0	0	75	0		1	1	0	129	0	238	0	78	330
TMEM8A	58986	broad.mit.edu	37	16	426714	426714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	245					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692																																						ENST00000431232.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998882	0.990000	1.000000																										0				14						c.(733-735)cCg>cTg		transmembrane protein 8A							22.0	25.0	24.0					16																	426714		2197	4294	6491	SO:0001583	missense	58986	1	120910	22				g.chr16:426714G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.734C>T	chr16.hg19:g.426714G>A	ENSP00000401338:p.Pro245Leu	0					TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	p.P245L	NM_021259.2	NP_067082.2	1	2	3	2.056757	Q9HCN3	TMM8A_HUMAN		5	894	-			D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	0	1	hg19	c.734C>T	CCDS10407.1	1	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985263	0.18889	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.31769	1.92;1.48	4.1	-1.8	0.07907	4.1	-1.8	0.07907	.	1.025100	0.07779	N	0.953031	T	0.21468	0.0517	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.28522	-1.0041	10	0.40728	T	0.16	-16.4183	6.0529	0.19794	0.3762:0.1241:0.4997:0.0	.	245	Q9HCN3	TMM8A_HUMAN	L	245;52	ENSP00000401338:P245L;ENSP00000250930:P52L	ENSP00000250930:P52L	P	-	2	0	0	TMEM8A	366715	366715	0.767000	0.28508	0.016000	0.15963	0.693000	0.40251	0.980000	0.29513	-0.539000	0.06273	0.305000	0.20034	CCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.321548	1	0.170000	NM_021259			24	23		163	161	1		1	1		0	0	23	0		9.999998e-01	1	0	35	0	186	0	24	163
NME4	4833	broad.mit.edu	37	16	449418	449418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000219479.2	+	3	279	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000397722.1_Missense_Mutation_p.R19W|DECR2_ENST00000219481.5_5'Flank|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000450036.1_Missense_Mutation_p.R19W|DECR2_ENST00000397710.1_5'Flank	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	89					CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632																																						ENST00000219479.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(265-267)Cgg>Tgg		NME/NM23 nucleoside diphosphate kinase 4							164.0	161.0	162.0					16																	449418		2202	4300	6502	SO:0001583	missense	4833	2	121370	41				g.chr16:449418C>T	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"""non-metastatic cells 4, protein expressed in"""			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.265C>T	chr16.hg19:g.449418C>T	ENSP00000219479:p.Arg89Trp	0					NME4_ENST00000450036.1_Missense_Mutation_p.R19W|DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000397722.1_Missense_Mutation_p.R19W|NME4_ENST00000382940.4_Missense_Mutation_p.R97W	p.R89W	NM_005009.2	NP_005000.1	1	2	3	2.056757	O00746	NDKM_HUMAN		3	279	+		Hepatocellular(16;0.00015)	A2IDD0|Q5U0M9	Missense_Mutation	SNP	ENST00000219479.2	1	1	hg19	c.265C>T	CCDS10408.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.831977|1.831977	0.32421|0.32421	.|.	.|.	ENSG00000103202|ENSG00000103202	ENST00000433358|ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000450036	.|T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42	4.74|4.74	-0.194|-0.194	0.13240|0.13240	4.74|4.74	-0.194|-0.194	0.13240|0.13240	.|.	.|0.575824	.|0.19021	.|N	.|0.124809	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.51550	.|0.673	T|T	0.66980|0.66980	-0.5786|-0.5786	5|10	.|0.87932	.|D	.|0	-5.5321|-5.5321	13.8811|13.8811	0.63682|0.63682	0.5062:0.4938:0.0:0.0|0.5062:0.4938:0.0:0.0	.|.	.|89	.|O00746	.|NDKM_HUMAN	V|W	84|19;19;89;97;19	.|ENSP00000380834:R19W;ENSP00000406317:R19W;ENSP00000219479:R89W;ENSP00000372398:R97W;ENSP00000389048:R19W	.|ENSP00000219479:R89W	A|R	+|+	2|1	0|2	0|2	NME4|NME4	389419|389419	389419|389419	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.345000|0.345000	0.29048|0.29048	1.056000|1.056000	0.30480|0.30480	0.161000|0.161000	0.19458|0.19458	-0.521000|-0.521000	0.04368|0.04368	GCG|CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	1	0	1		2	2	2	0		0	0	205		205	201	1	2.060000	-20.000000	1	0.170000	NM_005009			240	237		844	833	1		1	1		0	0	205	0		1	1	0	30	0	269	0	240	844
DECR2	26063	broad.mit.edu	37	16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	237					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692																																						ENST00000219481.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(709-711)Cag>Tag		2,4-dienoyl CoA reductase 2, peroxisomal							49.0	51.0	50.0					16																	461408		2202	4299	6501	SO:0001587	stop_gained	26063	0	0					g.chr16:461408C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.709C>T	chr16.hg19:g.461408C>T	ENSP00000219481:p.Gln237*	0					DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	p.Q237*	NM_020664.3	NP_065715.1	1	2	3	2.056757	Q9NUI1	DECR2_HUMAN		8	847	+		Hepatocellular(16;0.00015)	Q6ZRS7|Q96ET0	Nonsense_Mutation	SNP	ENST00000219481.5	0	1	hg19	c.709C>T	CCDS10409.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244166	0.59103	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	.	.	.	5.33	4.35	0.52113	5.33	4.35	0.52113	.	0.272166	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0866	0.64962	0.1518:0.8482:0.0:0.0	.	.	.	.	X	237;225	.	ENSP00000219481:Q237X	Q	+	1	0	0	DECR2	401409	401409	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	3.819000	0.55686	1.195000	0.43115	0.555000	0.69702	CAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_020664			69	68		299	293	1		1	1		0	0	52	0		1	9.999898e-01	0	3	0	72	0	69	299
MEFV	4210	broad.mit.edu	37	16	3293600	3293600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000219596.1	-	10	1926	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000339854.4_Silent_p.L449L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	629	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)			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						GGCCATCAGGCAGCCTCTCCC	0.502																																						ENST00000219596.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1885-1887)ctG>ctA		Mediterranean fever							178.0	192.0	187.0					16																	3293600		2197	4300	6497	SO:0001819	synonymous_variant	4210	0	0					g.chr16:3293600C>T	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.1887G>A	chr16.hg19:g.3293600C>T		0					MEFV_ENST00000339854.4_Silent_p.L449L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.L418L	p.L629L	NM_000243.2	NP_000234.1	1	2	3	2.056757	O15553	MEFV_HUMAN		10	1926	-			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	1	1	hg19	c.1887G>A	CCDS10498.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1		2	2	2	0		0	0	324		324	322	1	2.060000	-20.000000	1	0.170000	NM_000243			290	285		1317	1289	1		1	0		0	0	324	0		1	2.242247e-01	0	0	0	5	0	290	1317
ZNF263	10127	broad.mit.edu	37	16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000219069.5	+	1	943	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	23					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)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677																																						ENST00000219069.5	1.000000	0.900000	1	9.900000e-01	0.990000	0.994132	0.990000	1.000000																										0				20						c.(67-69)Gcc>Acc		zinc finger protein 263							34.0	40.0	38.0					16																	3333885		2197	4299	6496	SO:0001583	missense	10127	0	0					g.chr16:3333885G>A	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.67G>A	chr16.hg19:g.3333885G>A	ENSP00000219069:p.Ala23Thr	0					ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T	p.A23T	NM_005741.4	NP_005732.2	1	2	3	2.056757	O14978	ZN263_HUMAN		1	943	+			B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	1	1	hg19	c.67G>A	CCDS10499.1	1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096876	0.08681	.	.	ENSG00000006194	ENST00000219069	T	0.04809	3.55	5.06	3.08	0.35506	5.06	3.08	0.35506	.	0.623424	0.15188	N	0.275713	T	0.02455	0.0075	N	0.14661	0.345	0.29067	N	0.883524	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	7.4218	0.27075	0.1935:0.0:0.8065:0.0	.	23;23	O14978;D3DUC1	ZN263_HUMAN;.	T	23	ENSP00000219069:A23T	ENSP00000219069:A23T	A	+	1	0	0	ZNF263	3273886	3273886	0.021000	0.18746	0.999000	0.59377	0.980000	0.70556	0.319000	0.19522	1.468000	0.48064	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				32	32		273	265	1		1	1		0	0	34	0		1	9.590491e-01	0	5	0	42	0	32	273
ZNF263	10127	broad.mit.edu	37	16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000219069.5	+	5	1748	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	291					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)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547																																						ENST00000219069.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999757	0.990000	1.000000																										0				20						c.(871-873)aGa>aTa		zinc finger protein 263							50.0	49.0	50.0					16																	3338556		2197	4300	6497	SO:0001583	missense	10127	0	0					g.chr16:3338556G>T	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.872G>T	chr16.hg19:g.3338556G>T	ENSP00000219069:p.Arg291Ile	0					ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000538765.1_Intron	p.R291I	NM_005741.4	NP_005732.2	1	2	3	2.056757	O14978	ZN263_HUMAN		5	1748	+			B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	1	1	hg19	c.872G>T	CCDS10499.1	1	.	.	.	.	.	.	.	.	.	.	G	4.403	0.074462	0.08485	.	.	ENSG00000006194	ENST00000219069	T	0.05855	3.38	5.5	3.31	0.37934	5.5	3.31	0.37934	.	0.552403	0.16687	N	0.203685	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999994	B	0.22480	0.07	B	0.25759	0.063	T	0.38802	-0.9644	10	0.38643	T	0.18	.	8.8994	0.35485	0.1948:0.0:0.8052:0.0	.	291	O14978	ZN263_HUMAN	I	291	ENSP00000219069:R291I	ENSP00000219069:R291I	R	+	2	0	0	ZNF263	3278557	3278557	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.366000	0.20365	1.300000	0.44818	0.655000	0.94253	AGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				29	29		184	180	1		1	1		0	0	47	0		1	9.939874e-01	0	10	0	44	0	29	184
OR2C1	4993	broad.mit.edu	37	16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	249					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542																																						ENST00000304936.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(745-747)Ttc>Ctc		olfactory receptor, family 2, subfamily C, member 1							151.0	124.0	134.0					16																	3406685		2197	4300	6497	SO:0001583	missense	4993	0	0					g.chr16:3406685T>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.745T>C	chr16.hg19:g.3406685T>C	ENSP00000307726:p.Phe249Leu	0						p.F249L	NM_012368.2	NP_036500.2	1	2	3	2.056757	O95371	OR2C1_HUMAN		1	797	+			A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	1	1	hg19	c.745T>C	CCDS10502.1	1	.	.	.	.	.	.	.	.	.	.	t	2.689	-0.273511	0.05679	.	.	ENSG00000168158	ENST00000304936	T	0.34072	1.38	5.0	-1.61	0.08399	5.0	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	1.444030	0.05098	N	0.486474	T	0.18087	0.0434	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.23691	-1.0181	10	0.49607	T	0.09	.	5.3433	0.15996	0.0:0.2708:0.2594:0.4699	.	249	O95371	OR2C1_HUMAN	L	249	ENSP00000307726:F249L	ENSP00000307726:F249L	F	+	1	0	0	OR2C1	3346686	3346686	0.000000	0.05858	0.244000	0.24202	0.114000	0.19823	-0.662000	0.05305	-0.504000	0.06577	-1.288000	0.01363	TTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				106	105		356	348	1		1			0	0	74	0		1	0	0	0	0	0	0	106	356
C16orf90	646174	broad.mit.edu	37	16	3544819	3544819	+	Silent	SNP	G	G	A	rs368416924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716																																						ENST00000437192.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(103-105)taC>taT		chromosome 16 open reading frame 90		G		0,3652		0,0,1826	13.0	15.0	14.0		105	-1.3	1.0	16		14	3,8051		0,3,4024	no	coding-synonymous	C16orf90	NM_001080524.1		0,3,5850	AA,AG,GG		0.0372,0.0,0.0256		35/183	3544819	3,11703	1826	4027	5853	SO:0001819	synonymous_variant	646174	14	120070	37				g.chr16:3544819G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.105C>T	chr16.hg19:g.3544819G>A		0					LA16c-306E5.3_ENST00000574423.2_RNA	p.Y35Y	NM_001080524.1	NP_001073993.1	1	2	3	2.056757	A8MZG2	CP090_HUMAN		2	107	-				Silent	SNP	ENST00000437192.3	1	1	hg19	c.105C>T	CCDS45397.1	1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864105	0.17250	0.0	3.72E-4	ENSG00000215131	ENST00000399645	.	.	.	5.7	-1.31	0.09230	5.7	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0974	9.0821	0.36558	0.592:0.0:0.408:0.0	.	.	.	.	X	44	.	.	R	-	1	2	2	C16orf90	3484820	3484820	0.799000	0.28903	0.976000	0.42696	0.917000	0.54804	-0.431000	0.06965	-0.488000	0.06726	0.591000	0.81541	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_001080524			36	35		138	136	1		1			0	0	23	0		1	0	0	0	0	0	0	36	138
CLUAP1	23059	broad.mit.edu	37	16	3569998	3569998	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000576634.1	+	7	819	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000571025.1_Silent_p.E225E|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000341633.5_Silent_p.E225E	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	225					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)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403																																						ENST00000576634.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(673-675)gaA>gaG		clusterin associated protein 1							93.0	95.0	94.0					16																	3569998		2197	4300	6497	SO:0001819	synonymous_variant	23059	3	121412	31				g.chr16:3569998A>G	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.675A>G	chr16.hg19:g.3569998A>G		0					CLUAP1_ENST00000571025.1_Silent_p.E225E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E	p.E225E	NM_015041.2	NP_055856.1	1	2	3	2.056757	Q96AJ1	CLUA1_HUMAN		7	819	+			O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	1	1	hg19	c.675A>G	CCDS32381.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_024793			117	115		466	454	1		1	1		0	0	136	0		1	1	0	32	0	90	0	117	466
NLRC3	197358	broad.mit.edu	37	16	3613437	3613437	+	RNA	SNP	G	G	A	rs370250460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCATGGCCCGCTGGGCTGCG	0.657																																						ENST00000301749.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				34								NLR family, CARD domain containing 3							10.0	12.0	11.0					16																	3613437		2053	4180	6233			197358	1	119674	30				g.chr16:3613437G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3613437G>A		0					NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	1	2	3	2.056757	Q7RTR2	NLRC3_HUMAN		0	1906	-			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	1	0	hg19			1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472651	0.43942	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.09	-1.14	0.09741	5.09	-1.14	0.09741	.	0.068615	0.64402	D	0.000017	D	0.89350	0.6690	.	.	.	0.23981	N	0.996276	D	0.76494	0.999	P	0.61477	0.889	D	0.84616	0.0681	9	0.87932	D	0	.	14.2232	0.65841	0.0:0.0:0.4064:0.5936	.	548	C9JLH9	.	W	501;501;501;548;483	ENSP00000301749:R501W;ENSP00000352039:R501W;ENSP00000414415:R548W;ENSP00000323897:R483W	ENSP00000301749:R501W	R	-	1	2	2	NLRC3	3553438	3553438	0.994000	0.37717	0.991000	0.47740	0.990000	0.78478	0.261000	0.18442	0.169000	0.19679	-0.152000	0.13540	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_178844			16	16		39	38	1		1	0		0	0	12	0		9.999724e-01	8.622195e-01	0	0	0	11	0	16	39
NLRC3	197358	broad.mit.edu	37	16	3614177	3614177	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGCCACGGATGATGTT	0.602																																						ENST00000301749.7	1.000000	0.380000	1	5.400000e-01	0.750000	0.763945	0.750000	1.000000																										0				34								NLR family, CARD domain containing 3							68.0	75.0	73.0					16																	3614177		2019	4173	6192			197358	0	0					g.chr16:3614177C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3614177C>T		0					NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	1	2	3	2.056757	Q7RTR2	NLRC3_HUMAN		0	1166	-			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	1	0	hg19			0	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259544	0.59321	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.89065	0.6609	.	.	.	0.27180	N	0.960699	D	0.89917	1.0	D	0.91635	0.999	D	0.83701	0.0182	9	0.72032	D	0.01	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	301	C9JLH9	.	H	254;254;254;301;236	ENSP00000301749:R254H;ENSP00000352039:R254H;ENSP00000414415:R301H;ENSP00000323897:R236H	ENSP00000301749:R254H	R	-	2	0	0	NLRC3	3554178	3554178	1.000000	0.71417	0.620000	0.29132	0.359000	0.29487	4.890000	0.63178	2.273000	0.75805	0.655000	0.94253	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-14.386880	1	0.170000	NM_178844			11	11		181	179	0		1	0		0	0	48	0		9.983916e-01	6.818739e-02	0	0	0	7	0	11	181
NLRC3	197358	broad.mit.edu	37	16	3614447	3614447	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCTGCCCATGGGCCCAGAG	0.652																																						ENST00000301749.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34								NLR family, CARD domain containing 3							41.0	50.0	47.0					16																	3614447		2047	4174	6221			197358	0	0					g.chr16:3614447T>C	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3614447T>C		0					NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	1	2	3	2.056757	Q7RTR2	NLRC3_HUMAN		0	896	-			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	1	0	hg19			1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104095	0.00356	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.93	0.605	0.17553	4.93	0.605	0.17553	.	0.490181	0.20083	N	0.099603	T	0.61160	0.2325	.	.	.	0.19300	N	0.99997	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	0.14252	T	0.57	.	7.8904	0.29675	0.0:0.6419:0.0:0.3581	.	211	C9JLH9	.	R	164;164;164;211;146	ENSP00000301749:H164R;ENSP00000352039:H164R;ENSP00000414415:H211R;ENSP00000323897:H146R	ENSP00000301749:H164R	H	-	2	0	0	NLRC3	3554448	3554448	0.001000	0.12720	0.194000	0.23346	0.894000	0.52154	-0.131000	0.10482	0.138000	0.18790	-0.177000	0.13119	CAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1		2	2	2	0		0	0	52		52	46	1	2.060000	-20.000000	1	0.170000	NM_178844			73	71		301	286	1		1	0		0	0	52	0		1	3.915289e-02	0	0	0	2	0	73	301
TRAP1	10131	broad.mit.edu	37	16	3713514	3713514	+	Missense_Mutation	SNP	C	C	T	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	ENST00000246957.5	-	14	1707	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000573872.1_5'Flank|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R331H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	540					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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCAAACTCACGAAGGTGCAG	0.567																																						ENST00000246957.5	1.000000	0.860000	1	9.900000e-01	0.990000	0.989267	0.990000	1.000000																										0				19						c.(1618-1620)cGt>cAt		TNF receptor-associated protein 1							125.0	116.0	119.0					16																	3713514		2197	4300	6497	SO:0001583	missense	10131	2	121412	39				g.chr16:3713514C>T	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.1619G>A	chr16.hg19:g.3713514C>T	ENSP00000246957:p.Arg540His	0					TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|TRAP1_ENST00000573872.1_5'Flank|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R331H	p.R540H	NM_016292.2	NP_057376.2	1	2	3	2.056757	Q12931	TRAP1_HUMAN		14	1707	-		Ovarian(90;0.0261)	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	1	1	hg19	c.1619G>A	CCDS10508.1	1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236201	0.58886	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.83	4.88	0.63580	5.83	4.88	0.63580	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.52266	1.64	0.58432	D	0.999999	B;B	0.16396	0.013;0.017	B;B	0.16289	0.008;0.015	T	0.07770	-1.0755	10	0.12430	T	0.62	-9.1608	14.3252	0.66515	0.0:0.9286:0.0:0.0714	.	487;540	F5H897;Q12931	.;TRAP1_HUMAN	H	540;487	ENSP00000246957:R540H;ENSP00000442070:R487H	ENSP00000246957:R540H	R	-	2	0	0	TRAP1	3653515	3653515	0.724000	0.28038	0.195000	0.23364	0.957000	0.61999	3.333000	0.52090	1.474000	0.48178	0.557000	0.71058	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	0	0	1		2	12	2	1		1	0	98		98	98	1	2.060000	-15.554220	1	0.170000	NM_016292			51	49		491	483	0		1	1		1	0	98	0		1	9.982535e-01	0	42	0	242	0	51	491
TRAP1	10131	broad.mit.edu	37	16	3722703	3722703	+	Missense_Mutation	SNP	C	C	T	rs148180859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3722703C>T	ENST00000246957.5	-	10	1251	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	TRAP1_ENST00000538171.1_Missense_Mutation_p.R335Q|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.R179Q	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	388					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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CAGCGTACCTCGGATGAAGCG	0.637																																						ENST00000246957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1162-1164)cGa>cAa		TNF receptor-associated protein 1		C	GLN/ARG	0,4390	2.1+/-5.4	0,0,2195	113.0	78.0	90.0		1163	5.3	1.0	16	dbSNP_134	90	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TRAP1	NM_016292.2	43	0,6,6489	TT,TC,CC		0.0698,0.0,0.0462	probably-damaging	388/705	3722703	6,12984	2195	4300	6495	SO:0001583	missense	10131	32	121304	43				g.chr16:3722703C>T	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.1163G>A	chr16.hg19:g.3722703C>T	ENSP00000246957:p.Arg388Gln	0					TRAP1_ENST00000538171.1_Missense_Mutation_p.R335Q|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.R179Q	p.R388Q	NM_016292.2	NP_057376.2	1	2	3	2.056757	Q12931	TRAP1_HUMAN		10	1251	-		Ovarian(90;0.0261)	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	1	0	hg19	c.1163G>A	CCDS10508.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574950	0.86542	0.0	6.98E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.35	5.35	0.76521	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	M	0.76727	2.345	0.80722	D	1	P;P	0.42941	0.756;0.794	B;P	0.46659	0.388;0.523	T	0.00581	-1.1660	10	0.52906	T	0.07	-19.8289	18.3915	0.90485	0.0:1.0:0.0:0.0	.	335;388	F5H897;Q12931	.;TRAP1_HUMAN	Q	388;335	ENSP00000246957:R388Q;ENSP00000442070:R335Q	ENSP00000246957:R388Q	R	-	2	0	0	TRAP1	3662704	3662704	1.000000	0.71417	0.975000	0.42487	0.215000	0.24574	5.675000	0.68123	2.665000	0.90641	0.491000	0.48974	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-3.040148	1	0.170000	NM_016292			22	22		59	59	1		1	1		0	0	13	0		9.999997e-01	1	0	141	0	168	0	22	59
TRAP1	10131	broad.mit.edu	37	16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000246957.5	-	9	1035	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R107H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	316					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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607																																						ENST00000246957.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999668	0.990000	1.000000																										0				19						c.(946-948)cGc>cAc		TNF receptor-associated protein 1		C	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	190.0	110.0	137.0		947	5.8	1.0	16	dbSNP_134	137	0,8600		0,0,4300	no	missense	TRAP1	NM_016292.2	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	316/705	3724437	2,12992	2197	4300	6497	SO:0001583	missense	10131	2	121410	33				g.chr16:3724437C>T	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.947G>A	chr16.hg19:g.3724437C>T	ENSP00000246957:p.Arg316His	0					TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R107H	p.R316H	NM_016292.2	NP_057376.2	1	2	3	2.056757	Q12931	TRAP1_HUMAN		9	1035	-		Ovarian(90;0.0261)	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	1	1	hg19	c.947G>A	CCDS10508.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000810	0.74818	4.55E-4	0.0	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09630	2.96;2.96	5.82	5.82	0.92795	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.65677	2.01	0.80722	D	1	P;P	0.51449	0.933;0.945	P;P	0.57324	0.586;0.818	T	0.00198	-1.1929	10	0.72032	D	0.01	-28.6882	19.0936	0.93240	0.0:1.0:0.0:0.0	.	263;316	F5H897;Q12931	.;TRAP1_HUMAN	H	316;263	ENSP00000246957:R316H;ENSP00000442070:R263H	ENSP00000246957:R316H	R	-	2	0	0	TRAP1	3664438	3664438	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.320199	1	0.170000	NM_016292			31	31		206	203	1		1	1		0	0	38	0		1	1	0	172	0	209	0	31	206
TRAP1	10131	broad.mit.edu	37	16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	41					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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(121-123)Gcc>Tcc		TNF receptor-associated protein 1							70.0	65.0	67.0					16																	3740954		2197	4300	6497	SO:0001583	missense	10131	0	0					g.chr16:3740954C>A	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.121G>T	chr16.hg19:g.3740954C>A	ENSP00000246957:p.Ala41Ser	0		OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	613	TRAP1_ENST00000538171.1_Intron	p.A41S	NM_016292.2	NP_057376.2	1	2	3	2.056757	Q12931	TRAP1_HUMAN		2	209	-		Ovarian(90;0.0261)	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	1	1	hg19	c.121G>T	CCDS10508.1	1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129480	0.56721	.	.	ENSG00000126602	ENST00000246957	T	0.14022	2.54	5.61	3.63	0.41609	5.61	3.63	0.41609	.	1.396980	0.04856	N	0.443279	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.36615	T	0.2	-15.4687	5.0127	0.14321	0.1384:0.5165:0.2688:0.0764	.	41	Q12931	TRAP1_HUMAN	S	41	ENSP00000246957:A41S	ENSP00000246957:A41S	A	-	1	0	0	TRAP1	3680955	3680955	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.159000	0.10056	0.703000	0.31848	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_016292			48	47		227	224	1		1	1		0	0	56	0		1	1	0	57	0	75	0	48	227
CREBBP	1387	broad.mit.edu	37	16	3778862	3778862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2062					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)			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)		CGCTGGGTGAGATGCTCCTGG	0.652			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5	1.000000	0.500000	1	6.100000e-01	0.760000	0.786561	0.760000	1.000000				Dom/Rec	yes			Dom/Rec	yes		16	16p13.3	16p13.3	1387	T, N, F, Mis, O	CREB binding protein (CBP)	yes	yes	Rubinstein-Taybi syndrome	L	L	MLL, MORF, RUNXBP2		ALL, AML, DLBCL, B-NHL 		0				295						c.(6184-6186)atC>atT		CREB binding protein																																				SO:0001819	synonymous_variant	1387	2	121382	33				g.chr16:3778862G>A	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.6186C>T	chr16.hg19:g.3778862G>A		0					CREBBP_ENST00000382070.3_Silent_p.I2024I	p.I2062I	NM_004380.2	NP_004371.2	1	2	3	2.056757	Q92793	CBP_HUMAN		31	6995	-		Ovarian(90;0.0266)	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	1	1	hg19	c.6186C>T	CCDS10509.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_004380			26	26		403	393	0		1	1		0	0	46	0		9.999999e-01	9.006047e-01	0	3	0	61	0	26	403
CREBBP	1387	broad.mit.edu	37	16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1218	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)		ATGGTACACAGCTGCTTCCCA	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000				Dom/Rec	yes			Dom/Rec	yes		16	16p13.3	16p13.3	1387	T, N, F, Mis, O	CREB binding protein (CBP)	yes	yes	Rubinstein-Taybi syndrome	L	L	MLL, MORF, RUNXBP2		ALL, AML, DLBCL, B-NHL 		0				295						c.(3652-3654)Ctg>Atg		CREB binding protein							68.0	59.0	62.0					16																	3807335		2197	4300	6497	SO:0001583	missense	1387	0	0					g.chr16:3807335G>T	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.3652C>A	chr16.hg19:g.3807335G>T	ENSP00000262367:p.Leu1218Met	0					CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	p.L1218M	NM_004380.2	NP_004371.2	1	2	3	2.056757	Q92793	CBP_HUMAN		19	4461	-		Ovarian(90;0.0266)	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	1	1	hg19	c.3652C>A	CCDS10509.1	1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328756	0.41197	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85013	-1.93;-1.86	6.04	5.0	0.66597	6.04	5.0	0.66597	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.64402	D	0.000017	D	0.89649	0.6776	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88591	0.3143	10	0.36615	T	0.2	-20.96	14.8977	0.70656	0.073:0.0:0.927:0.0	.	1248;1218	Q4LE28;Q92793	.;CBP_HUMAN	M	1218;1248;1180	ENSP00000262367:L1218M;ENSP00000371502:L1180M	ENSP00000262367:L1218M	L	-	1	2	2	CREBBP	3747336	3747336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.405000	0.46838	0.563000	0.77884	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	0	0	1		16	16	2	1		1	1	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_004380			19	19		85	85	0		1	1		1	0	19	0		7.609141e-01	7.883386e-01	0	28	0	79	0	19	85
ADCY9	115	broad.mit.edu	37	16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					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)			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						CTCCAGCAGGCGCTTGGTGCA	0.662																																						ENST00000294016.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2560-2562)cGc>cAc		adenylate cyclase 9		C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	60.0	60.0	60.0		2561	2.1	1.0	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	29	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	854/1354	4029235	1,12993	2197	4300	6497	SO:0001583	missense	115	1	121412	35				g.chr16:4029235C>T	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.2561G>A	chr16.hg19:g.4029235C>T	ENSP00000294016:p.Arg854His	0						p.R854H	NM_001116.3	NP_001107.2	1	2	3	2.056757	O60503	ADCY9_HUMAN		8	3099	-			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	1	1	hg19	c.2561G>A	CCDS32382.1	1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	0	ADCY9	3969236	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1		2	2	2	0		0	0	66		66	61	1	2.060000	-20.000000	1	0.170000				73	68		355	345	1		1	1		0	0	66	0		1	9.992118e-01	0	18	0	35	0	73	355
ADCY9	115	broad.mit.edu	37	16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	538					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)			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						TCATCTAAGTATTTTGCGGTG	0.498																																						ENST00000294016.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1612-1614)Tac>Cac		adenylate cyclase 9							117.0	113.0	114.0					16																	4163832		2197	4300	6497	SO:0001583	missense	115	0	0					g.chr16:4163832A>G	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.1612T>C	chr16.hg19:g.4163832A>G	ENSP00000294016:p.Tyr538His	0						p.Y538H	NM_001116.3	NP_001107.2	1	2	3	2.056757	O60503	ADCY9_HUMAN		2	2150	-			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	1	1	hg19	c.1612T>C	CCDS32382.1	1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653982	0.47362	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.39	5.39	0.77823	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.063531	0.64402	D	0.000003	T	0.80265	0.4591	N	0.16478	0.41	0.50813	D	0.999899	D	0.69078	0.997	D	0.63488	0.915	T	0.79562	-0.1752	10	0.29301	T	0.29	.	15.4464	0.75235	1.0:0.0:0.0:0.0	.	538	O60503	ADCY9_HUMAN	H	538	ENSP00000294016:Y538H	ENSP00000294016:Y538H	Y	-	1	0	0	ADCY9	4103833	4103833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.064000	0.61679	0.454000	0.30748	TAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000				138	132		522	511	1		1	1		0	0	107	0		1	9.999999e-01	0	28	0	60	0	138	522
ADCY9	115	broad.mit.edu	37	16	4164631	4164631	+	Silent	SNP	C	C	T	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	271					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)			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						CGGCTCCGGGCGAGGGGAAGC	0.617													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17919	0.0		0.0	False		,,,				2504	0.0					ENST00000294016.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(811-813)tcG>tcA		adenylate cyclase 9		C		25,4369		0,25,2172	29.0	29.0	29.0		813	-4.5	0.0	16	dbSNP_134	29	0,8598		0,0,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,25,6471	TT,TC,CC		0.0,0.569,0.1924		271/1354	4164631	25,12967	2197	4299	6496	SO:0001819	synonymous_variant	115	66	121396	47				g.chr16:4164631C>T	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.813G>A	chr16.hg19:g.4164631C>T		0						p.S271S	NM_001116.3	NP_001107.2	1	2	3	2.056757	O60503	ADCY9_HUMAN		2	1351	-			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	1	1	hg19	c.813G>A	CCDS32382.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.274566	1	0.170000				69	67		273	271	1		1	1		0	0	47	0		1	9.999984e-01	0	19	0	60	0	69	273
CORO7	79585	broad.mit.edu	37	16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	730					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTGAGGGAGCCACGTCCAGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				23						c.(2188-2190)Gct>Act		coronin 7							34.0	38.0	37.0					16																	4409543		2197	4298	6495	SO:0001583	missense	79585	0	0					g.chr16:4409543C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2188G>A	chr16.hg19:g.4409543C>T	ENSP00000251166:p.Ala730Thr	0		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	p.A730T	NM_024535.4	NP_078811.3	1	2	3	2.056757	P57737	CORO7_HUMAN		22	2333	-			B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	1	1	hg19	c.2188G>A	CCDS10513.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990845	0.74703	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	1.895140	0.02286	N	0.069820	T	0.61825	0.2378	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.989;0.99	P;D;D;P;P	0.91635	0.796;0.999;0.993;0.824;0.897	T	0.18209	-1.0344	10	0.52906	T	0.07	-16.4401	14.1279	0.65233	0.1503:0.8497:0.0:0.0	.	645;712;510;730;711	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	T	730;645;510	ENSP00000251166:A730T;ENSP00000446221:A510T	ENSP00000251166:A730T	A	-	1	0	0	CORO7	4349544	4349544	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	4.287000	0.59001	2.649000	0.89929	0.655000	0.94253	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_024535			41	40		241	239	1		1	1		0	0	37	0		1	9.999978e-01	0	21	0	98	0	41	241
DNAJA3	9093	broad.mit.edu	37	16	4491569	4491569	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4491569C>A	ENST00000262375.6	+	4	700	c.623C>A	c.(622-624)cCt>cAt	p.P208H	DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	208					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)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGATCAGCCTCAGGAAGTA	0.428																																						ENST00000262375.6	1.000000	0.300000	1	4.100000e-01	0.570000	0.630178	0.570000	0.510000																										0				15						c.(622-624)cCt>cAt		DnaJ (Hsp40) homolog, subfamily A, member 3							58.0	58.0	58.0					16																	4491569		2197	4300	6497	SO:0001583	missense	9093	0	0					g.chr16:4491569C>A	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.623C>A	chr16.hg19:g.4491569C>A	ENSP00000262375:p.Pro208His	0					DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H	p.P208H	NM_005147.5	NP_005138.3	1	2	3	2.056757	Q96EY1	DNJA3_HUMAN		4	700	+			B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	0	1	hg19	c.623C>A	CCDS10515.1	0	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705733	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66280	-0.2;-0.19;0.88	5.79	4.83	0.62350	5.79	4.83	0.62350	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.997;0.993;0.999	P;D;P	0.64595	0.864;0.927;0.907	T	0.78099	-0.2336	10	0.72032	D	0.01	-9.1381	14.4155	0.67148	0.0:0.928:0.0:0.072	.	55;208;208	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	208;208;55	ENSP00000262375:P208H;ENSP00000347445:P208H;ENSP00000393970:P55H	ENSP00000262375:P208H	P	+	2	0	0	DNAJA3	4431570	4431570	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.768000	0.85345	2.752000	0.94435	0.558000	0.71614	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.110441	1	0.170000				12	12		264	257	0		1	1		0	0	58	0		9.990325e-01	9.780749e-01	0	16	0	128	0	12	264
ZNF267	10308	broad.mit.edu	37	16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388																																						ENST00000300870.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999485	0.990000	1.000000																										0				41						c.(2185-2187)Tca>Cca		zinc finger protein 267							69.0	71.0	70.0					16																	31927755		2197	4300	6497	SO:0001583	missense	10308	0	0					g.chr16:31927755T>C	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.2185T>C	chr16.hg19:g.31927755T>C	ENSP00000300870:p.Ser729Pro	0						p.S729P	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	1	2	3	2.056757	Q14586	ZN267_HUMAN		4	2394	+			A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	1	1	hg19	c.2185T>C	CCDS32440.1	1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463235	0.26248	.	.	ENSG00000185947	ENST00000300870	T	0.32988	1.43	0.468	0.468	0.16732	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	M	0.76002	2.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.6393	0.04966	0.0:0.3837:0.0:0.6163	.	729	Q14586	ZN267_HUMAN	P	729	ENSP00000300870:S729P	ENSP00000300870:S729P	S	+	1	0	0	ZNF267	31835256	31835256	0.000000	0.05858	0.215000	0.23724	0.201000	0.24016	-0.131000	0.10482	0.413000	0.25759	0.402000	0.26972	TCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_003414			35	35		249	244	1		1	1		0	0	68	0		1	9.950794e-01	0	17	0	44	0	35	249
SHCBP1	79801	broad.mit.edu	37	16	46629512	46629512	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	472					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453																																						ENST00000303383.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999257	0.990000	1.000000																										0				28						c.(1414-1416)cgG>cgA		SHC SH2-domain binding protein 1							102.0	91.0	95.0					16																	46629512		2203	4300	6503	SO:0001819	synonymous_variant	79801	0	0					g.chr16:46629512C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1416G>A	chr16.hg19:g.46629512C>T		0						p.R472R	NM_024745.4	NP_079021	1	2	3	2.056757	Q8NEM2	SHCBP_HUMAN		10	1682	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	1	1	hg19	c.1416G>A	CCDS10720.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_024745			49	49		387	379	1		1	0		0	0	84	0		1	7.024356e-01	0	1	0	20	0	49	387
C16orf87	388272	broad.mit.edu	37	16	46843515	46843515	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383																																						ENST00000285697.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.993504	0.990000	1.000000																										0				5						c.(346-348)Gag>Aag		chromosome 16 open reading frame 87							215.0	197.0	203.0					16																	46843515		2203	4300	6503	SO:0001630	splice_region_variant	388272	0	0					g.chr16:46843515C>T		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.346+1G>A	chr16.hg19:g.46843515C>T		0					C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	p.E116K	NM_001001436.2	NP_001001436.1	1	2	3	2.056757	Q6PH81	CP087_HUMAN		3	607	-			Q63HN9	Splice_Site	SNP	ENST00000285697.4	0	1	hg19	c.346G>A	CCDS10724.1	1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177511	0.57692	.	.	ENSG00000155330	ENST00000285697	.	.	.	5.68	4.72	0.59763	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	8	.	.	.	-6.9821	15.1206	0.72441	0.0:0.9316:0.0:0.0684	.	116	Q6PH81	CP087_HUMAN	K	116	.	.	E	-	1	0	0	C16orf87	45401016	45401016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.943000	0.75934	1.541000	0.49316	0.585000	0.79938	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	0	0	1		18	3	2	1		1	1	176		176	175	1	2.060000	-19.992710	1	0.170000	NM_001001436	Missense_Mutation		87	86		851	822	0		1	0		1	0	176	0		1	7.983083e-01	0	0	0	45	0	87	851
GPT2	84706	broad.mit.edu	37	16	46918680	46918680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	ENST00000340124.4	+	2	165	c.53G>T	c.(52-54)aGc>aTc	p.S18I	GPT2_ENST00000440783.2_5'Flank	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	18					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CGGACCCCCAGCTCCTGGGGC	0.721																																						ENST00000340124.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(52-54)aGc>aTc		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|Phenelzine(DB00780)						7.0	9.0	8.0					16																	46918680		1422	3190	4612	SO:0001583	missense	84706	0	0					g.chr16:46918680G>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.53G>T	chr16.hg19:g.46918680G>T	ENSP00000345282:p.Ser18Ile	0					GPT2_ENST00000440783.2_5'Flank	p.S18I	NM_133443.2	NP_597700.1	1	2	3	2.056757	Q8TD30	ALAT2_HUMAN		2	165	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	0	1	hg19	c.53G>T	CCDS10725.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093386	0.36952	.	.	ENSG00000166123	ENST00000340124	D	0.83075	-1.68	4.92	4.92	0.64577	4.92	4.92	0.64577	.	1.077360	0.07185	N	0.854704	T	0.72301	0.3443	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.53556	-0.8422	10	0.42905	T	0.14	.	15.1791	0.72941	0.0:0.0:1.0:0.0	.	18	Q8TD30	ALAT2_HUMAN	I	18	ENSP00000345282:S18I	ENSP00000345282:S18I	S	+	2	0	0	GPT2	45476181	45476181	0.479000	0.25925	0.367000	0.25926	0.088000	0.18126	2.108000	0.41854	2.434000	0.82447	0.313000	0.20887	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000				44	44		100	98	0		1			0	0	18	0		1	0	0	0	0	0	0	44	100
DNAJA2	10294	broad.mit.edu	37	16	47001552	47001552	+	Silent	SNP	G	G	A	rs575291050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	150					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)			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)				CAGACTTTCCGCCTTGGCTAA	0.463																																						ENST00000317089.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(448-450)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 2							198.0	159.0	172.0					16																	47001552		2203	4300	6503	SO:0001819	synonymous_variant	10294	5	121412	41				g.chr16:47001552G>A	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.450C>T	chr16.hg19:g.47001552G>A		0						p.G150G	NM_005880.3	NP_005871.1	1	2	3	2.056757	O60884	DNJA2_HUMAN		5	665	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	B2R7L7|O14711	Silent	SNP	ENST00000317089.5	1	1	hg19	c.450C>T	CCDS10726.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000				131	127		547	534	1		1	1		0	0	123	0		1	1	0	106	0	339	0	131	547
MGRN1	23295	broad.mit.edu	37	16	4732890	4732890	+	Silent	SNP	C	C	T	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000588994.1_Silent_p.D453D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	475					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)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701																																						ENST00000399577.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				18						c.(1423-1425)gaC>gaT		mahogunin ring finger 1, E3 ubiquitin protein ligase		C	,,,	2,3910		0,2,1954	31.0	33.0	33.0		1359,1425,1359,1425	-10.0	0.0	16	dbSNP_129	33	2,8278		0,2,4138	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,4,6092	TT,TC,CC		0.0242,0.0511,0.0328	,,,	453/555,475/553,453/531,475/577	4732890	4,12188	1956	4140	6096	SO:0001819	synonymous_variant	23295	22	120838	41				g.chr16:4732890C>T	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.1425C>T	chr16.hg19:g.4732890C>T		0					MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000586183.1_Silent_p.D453D	p.D475D	NM_001142290.2	NP_001135762.1	1	2	3	2.056757	O60291	MGRN1_HUMAN		14	1518	+			A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	1	1	hg19	c.1425C>T	CCDS45402.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-20.000000	1	0.170000				27	26		112	110	1		1	1		0	0	38	0		1	1	0	47	0	159	0	27	112
ANKS3	124401	broad.mit.edu	37	16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T	rs373599022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597																																						ENST00000304283.4	1.000000	0.740000	1	8.400000e-01	0.960000	0.934587	0.960000	1.000000																										0				19						c.(862-864)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 3		C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	71.0	76.0	74.0		542,863	1.7	0.0	16		74	0,8598		0,0,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	29,29	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	181/550,288/657	4755101	1,12989	2196	4299	6495	SO:0001583	missense	124401	5	121398	42				g.chr16:4755101C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.863G>A	chr16.hg19:g.4755101C>T	ENSP00000304586:p.Arg288His	0					ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H	p.R288H	NM_133450.3	NP_597707.1	1	2	3	2.056757	Q6ZW76	ANKS3_HUMAN		8	1157	-			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	1	1	hg19	c.863G>A	CCDS10520.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992886	0.35131	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.36;3.11;0.89	5.94	1.73	0.24493	5.94	1.73	0.24493	.	1.311960	0.04445	N	0.371542	T	0.35624	0.0938	L	0.40543	1.245	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.12837	0.008;0.0	T	0.25537	-1.0129	10	0.45353	T	0.12	-2.6572	7.2688	0.26244	0.0:0.6024:0.2561:0.1414	.	82;288	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	H	288;159;82	ENSP00000304586:R288H;ENSP00000406796:R159H;ENSP00000388270:R82H	ENSP00000304586:R288H	R	-	2	0	0	ANKS3	4695102	4695102	0.004000	0.15560	0.000000	0.03702	0.096000	0.18686	0.356000	0.20181	0.103000	0.17682	0.563000	0.77884	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-14.971510	1	0.170000	NM_133450			68	68		805	797	0		1	1		0	0	130	0		1	7.084525e-01	0	6	0	25	0	68	805
ITFG1	81533	broad.mit.edu	37	16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328																																						ENST00000320640.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1585-1587)Cga>Tga		integrin alpha FG-GAP repeat containing 1							175.0	162.0	166.0					16																	47195737		2202	4300	6502	SO:0001587	stop_gained	81533	0	0					g.chr16:47195737G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1585C>T	chr16.hg19:g.47195737G>A	ENSP00000319918:p.Arg529*	0					ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*	p.R529*	NM_030790.3	NP_110417.2	1	2	3	2.056757	Q8TB96	TIP_HUMAN		16	1813	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	Q96SR4|Q9BRE2|Q9H2V9	Nonsense_Mutation	SNP	ENST00000320640.6	0	1	hg19	c.1585C>T	CCDS10728.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.733351	0.97796	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.41	1.6	0.23607	5.41	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.0712	9.6162	0.39692	0.0707:0.0:0.4397:0.4895	.	.	.	.	X	529;189;274;416	.	ENSP00000319918:R529X	R	-	1	2	2	ITFG1	45753238	45753238	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	1.485000	0.35519	0.383000	0.24910	0.467000	0.42956	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_030790			98	98		443	435	1		1	1		0	0	105	0		1	1	0	10	0	393	0	98	443
ANKS3	124401	broad.mit.edu	37	16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T	rs372034547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617																																						ENST00000304283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(700-702)cGg>cAg		ankyrin repeat and sterile alpha motif domain containing 3		C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	86.0	67.0	73.0		380,701	4.7	1.0	16		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	43,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	127/550,234/657	4764060	1,12993	2197	4300	6497	SO:0001583	missense	124401	1	121412	35				g.chr16:4764060C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.701G>A	chr16.hg19:g.4764060C>T	ENSP00000304586:p.Arg234Gln	0					ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q	p.R234Q	NM_133450.3	NP_597707.1	1	2	3	2.056757	Q6ZW76	ANKS3_HUMAN		7	995	-			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	1	1	hg19	c.701G>A	CCDS10520.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909587	0.92107	0.0	1.16E-4	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.52754	1.21;2.98;0.65	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.393434	0.23023	N	0.052828	T	0.66107	0.2756	M	0.69823	2.125	0.40360	D	0.979238	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.944	T	0.67902	-0.5550	10	0.48119	T	0.1	-7.6051	14.5727	0.68224	0.0:1.0:0.0:0.0	.	28;234	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	Q	234;105;28	ENSP00000304586:R234Q;ENSP00000406796:R105Q;ENSP00000388270:R28Q	ENSP00000304586:R234Q	R	-	2	0	0	ANKS3	4704061	4704061	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.192000	0.58378	2.472000	0.83506	0.561000	0.74099	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.272300	1	0.170000	NM_133450			66	63		261	253	1		1	1		0	0	60	0		1	9.918409e-01	0	3	0	29	0	66	261
PHKB	5257	broad.mit.edu	37	16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000323584.5	+	10	938	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	305					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)			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)				TATCCTGCATTTGCCCTGGAT	0.423																																						ENST00000323584.5	1.000000	0.470000	1	5.800000e-01	0.740000	0.766452	0.740000	1.000000																										0				41						c.(913-915)tTt>tCt		phosphorylase kinase, beta							98.0	92.0	94.0					16																	47622859		2201	4300	6501	SO:0001583	missense	5257	1	121412	29				g.chr16:47622859T>C		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.914T>C	chr16.hg19:g.47622859T>C	ENSP00000313504:p.Phe305Ser	0					PHKB_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000567402.1_3'UTR	p.F305S	NM_000293.2	NP_000284.1	1	2	3	2.056757	Q93100	KPBB_HUMAN		10	938	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	1	1	hg19	c.914T>C	CCDS10729.1	0	.	.	.	.	.	.	.	.	.	.	T	30	5.057005	0.93846	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.92459	3.31	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.761	D	0.98270	1.0503	10	0.87932	D	0	-9.115	16.635	0.85050	0.0:0.0:0.0:1.0	.	305;298	Q93100;Q93100-4	KPBB_HUMAN;.	S	298;298;305	ENSP00000414345:F298S;ENSP00000313504:F305S	ENSP00000299167:F298S	F	+	2	0	0	PHKB	46180360	46180360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.922000	0.87538	2.330000	0.79161	0.477000	0.44152	TTT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				23	22		371	362	1		1	1		0	0	70	0		9.999992e-01	9.929862e-01	0	27	0	102	0	23	371
PHKB	5257	broad.mit.edu	37	16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000323584.5	+	26	2522	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000455779.1_Missense_Mutation_p.N826S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	833					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)			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)				GTGATTCAAAACATCATCTAT	0.403																																						ENST00000323584.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2497-2499)aAc>aGc		phosphorylase kinase, beta							118.0	111.0	114.0					16																	47703196		2201	4300	6501	SO:0001583	missense	5257	0	0					g.chr16:47703196A>G		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.2498A>G	chr16.hg19:g.47703196A>G	ENSP00000313504:p.Asn833Ser	0					PHKB_ENST00000566044.1_Missense_Mutation_p.N826S|PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000455779.1_Missense_Mutation_p.N826S	p.N833S	NM_000293.2	NP_000284.1	1	2	3	2.056757	Q93100	KPBB_HUMAN		26	2522	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	1	1	hg19	c.2498A>G	CCDS10729.1	1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188263	0.38609	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88741	-2.42;-2.42	6.16	6.16	0.99307	6.16	6.16	0.99307	Glycoside hydrolase 15-related (1);	0.206100	0.53938	D	0.000047	D	0.83552	0.5279	L	0.35414	1.06	0.42581	D	0.993217	B;B;B	0.27559	0.181;0.008;0.18	B;B;B	0.29862	0.083;0.016;0.108	T	0.79617	-0.1729	10	0.09843	T	0.71	-24.4208	16.8061	0.85666	1.0:0.0:0.0:0.0	.	74;833;826	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	S	826;826;833	ENSP00000414345:N826S;ENSP00000313504:N833S	ENSP00000299167:N826S	N	+	2	0	0	PHKB	46260697	46260697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.746000	0.62133	2.367000	0.80283	0.528000	0.53228	AAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				87	86		388	381	1		1	1		0	0	80	0		1	1	0	54	0	101	0	87	388
PHKB	5257	broad.mit.edu	37	16	47727313	47727313	+	Silent	SNP	C	C	T	rs201377441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000323584.5	+	28	2814	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I|PHKB_ENST00000566044.1_Silent_p.I923I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	930	Calmodulin-binding. {ECO:0000255}.				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)			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)				GGCGTCAGATCGATGGGTCTT	0.483																																						ENST00000323584.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(2788-2790)atC>atT		phosphorylase kinase, beta							87.0	81.0	83.0					16																	47727313		2201	4300	6501	SO:0001819	synonymous_variant	5257	0	0					g.chr16:47727313C>T		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.2790C>T	chr16.hg19:g.47727313C>T		0					PHKB_ENST00000566044.1_Silent_p.I923I|PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I	p.I930I	NM_000293.2	NP_000284.1	1	2	3	2.056757	Q93100	KPBB_HUMAN		28	2814	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	Q8N4T5	Silent	SNP	ENST00000323584.5	1	1	hg19	c.2790C>T	CCDS10729.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.253550	1	0.170000				35	35		163	163	1		1	1		0	0	47	0		1	1	0	43	0	120	0	35	163
ANKS3	124401	broad.mit.edu	37	16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	182										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCACGATTATCTCATGGCCAG	0.438																																						ENST00000304283.4	1.000000	0.320000	1	4.500000e-01	0.630000	0.677803	0.630000	0.570000																										0				19						c.(544-546)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 3							81.0	71.0	74.0					16																	4774778		2197	4300	6497	SO:0001583	missense	124401	0	0					g.chr16:4774778C>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.546G>T	chr16.hg19:g.4774778C>A	ENSP00000304586:p.Glu182Asp	0					ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	p.E182D	NM_133450.3	NP_597707.1	1	2	3	2.056757	Q6ZW76	ANKS3_HUMAN		6	840	-			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	1	1	hg19	c.546G>T	CCDS10520.1	0	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787099	0.70337	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65549	-0.16;-0.1	5.51	-0.996	0.10218	5.51	-0.996	0.10218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.64922	-0.6293	10	0.40728	T	0.16	-3.7901	11.9999	0.53224	0.0:0.6751:0.0:0.3249	.	182	Q6ZW76	ANKS3_HUMAN	D	182;53	ENSP00000304586:E182D;ENSP00000406796:E53D	ENSP00000304586:E182D	E	-	3	2	2	ANKS3	4714779	4714779	1.000000	0.71417	0.763000	0.31416	0.888000	0.51559	0.937000	0.28951	-0.032000	0.13758	-0.345000	0.07892	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-13.418660	1	0.170000	NM_133450			11	11		218	213	0		1	0		0	0	48	0		9.982497e-01	4.057609e-01	0	1	0	26	0	11	218
ANKS3	124401	broad.mit.edu	37	16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577																																						ENST00000304283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(136-138)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 3							177.0	158.0	164.0					16																	4780014		2197	4300	6497	SO:0001583	missense	124401	0	0					g.chr16:4780014C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.137G>A	chr16.hg19:g.4780014C>T	ENSP00000304586:p.Gly46Asp	0					ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	p.G46D	NM_133450.3	NP_597707.1	1	2	3	2.056757	Q6ZW76	ANKS3_HUMAN		3	431	-			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	1	1	hg19	c.137G>A	CCDS10520.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951772	0.92660	.	.	ENSG00000168096	ENST00000304283	T	0.62232	0.04	5.82	5.82	0.92795	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	10	0.72032	D	0.01	-1.4544	19.0811	0.93182	0.0:1.0:0.0:0.0	.	46	Q6ZW76	ANKS3_HUMAN	D	46	ENSP00000304586:G46D	ENSP00000304586:G46D	G	-	2	0	0	ANKS3	4720015	4720015	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.466000	0.80914	2.756000	0.94617	0.561000	0.74099	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	1		2	2	2	0		0	0	209		209	206	1	2.060000	-20.000000	1	0.170000	NM_133450			145	144		798	785	1		1	1		0	0	209	0		1	9.491338e-01	0	3	0	26	0	145	798
C16orf71	146562	broad.mit.edu	37	16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C	rs201035593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000299320.5	+	2	536	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	ANKS3_ENST00000585773.1_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000304283.4_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|ANKS3_ENST00000450067.2_5'Flank|ANKS3_ENST00000592711.1_5'Flank	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592																																						ENST00000299320.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(58-60)Atg>Ctg		chromosome 16 open reading frame 71							67.0	66.0	66.0					16																	4786573		2197	4300	6497	SO:0001583	missense	146562	0	0					g.chr16:4786573A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.58A>C	chr16.hg19:g.4786573A>C	ENSP00000299320:p.Met20Leu	0					C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|ANKS3_ENST00000585773.1_5'Flank|ANKS3_ENST00000450067.2_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000304283.4_5'Flank|ANKS3_ENST00000592711.1_5'Flank	p.M20L	NM_139170.2	NP_631909.2	1	2	3	2.056757	Q8IYS4	CP071_HUMAN		2	536	+			Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	1	1	hg19	c.58A>C	CCDS10521.1	1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.209884	0.01555	.	.	ENSG00000166246	ENST00000299320	T	0.11604	2.76	1.47	0.336	0.15958	1.47	0.336	0.15958	.	0.941963	0.08679	U	0.909651	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43426	-0.9392	10	0.25106	T	0.35	.	4.0857	0.09947	0.5859:0.0:0.4141:0.0	.	20	Q8IYS4	CP071_HUMAN	L	20	ENSP00000299320:M20L	ENSP00000299320:M20L	M	+	1	0	0	C16orf71	4726574	4726574	0.005000	0.15991	0.126000	0.21872	0.014000	0.08584	0.408000	0.21065	0.079000	0.16929	-0.441000	0.05720	ATG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_139170			79	79		316	311	1		1	0		0	0	73	0		1	4.101110e-02	0	1	0	1	0	79	316
C16orf71	146562	broad.mit.edu	37	16	4790160	4790160	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000299320.5	+	4	761	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.L109L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423																																						ENST00000299320.5	1.000000	0.370000	1	4.600000e-01	0.570000	0.633469	0.570000	0.540000																										0				11						c.(283-285)Ctg>Ttg		chromosome 16 open reading frame 71							80.0	82.0	82.0					16																	4790160		2197	4300	6497	SO:0001819	synonymous_variant	146562	0	0					g.chr16:4790160C>T	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.283C>T	chr16.hg19:g.4790160C>T		0					C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	p.L95L	NM_139170.2	NP_631909.2	1	2	3	2.056757	Q8IYS4	CP071_HUMAN		4	761	+			Q8NCV0	Silent	SNP	ENST00000299320.5	1	1	hg19	c.283C>T	CCDS10521.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	0	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-3.017764	1	0.170000	NM_139170			27	27		571	561	0		1	0		0	0	115	0		9.999999e-01	2.035902e-02	0	0	0	5	0	27	571
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000323584.5	+	29	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000455779.1_Silent_p.I991I|PHKB_ENST00000566044.1_Silent_p.I991I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					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)			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)				ACAGACAGATCGTTGTAGAGG	0.423																																						ENST00000323584.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				41						c.(2992-2994)atC>atT		phosphorylase kinase, beta							114.0	101.0	105.0					16																	47730390		2201	4300	6501	SO:0001819	synonymous_variant	5257	0	0					g.chr16:47730390C>T		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.2994C>T	chr16.hg19:g.47730390C>T		0					PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000455779.1_Silent_p.I991I	p.I998I	NM_000293.2	NP_000284.1	1	2	3	2.056757	Q93100	KPBB_HUMAN		29	3018	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	Q8N4T5	Silent	SNP	ENST00000323584.5	1	1	hg19	c.2994C>T	CCDS10729.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	0		2	2	2	0		0	0	61		61	59	1	2.060000	-3.154028	1	0.170000				41	40		228	220	0		1	1		0	0	61	0		1	1	0	55	0	119	0	41	228
ABCC12	94160	broad.mit.edu	37	16	48125031	48125031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1095						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATTTCTTACCGAAATGTATT	0.458																																						ENST00000311303.3	1.000000	0.310000	1	3.700000e-01	0.450000	0.542343	0.450000	0.430000																										0				90						c.(3283-3285)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							142.0	140.0	141.0					16																	48125031		2201	4300	6501	SO:0001630	splice_region_variant	94160	0	0					g.chr16:48125031C>T	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.3285+1G>A	chr16.hg19:g.48125031C>T		0					ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.S1095S	NM_033226.2	NP_150229.2	1	2	3	2.056757	Q96J65	MRP9_HUMAN		23	3630	-		all_cancers(37;0.0474)|all_lung(18;0.047)	Q49AL2|Q8TAF0|Q8TEY2	Splice_Site	SNP	ENST00000311303.3	0	1	hg19	c.3285G>A	CCDS10730.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	1		2	2	2	0		0	0	172		172	169	1	2.060000	-2.435600	0	0.170000	NM_033226	Silent		36	35		954	927	0		1			0	0	172	0		1	0	0	0	0	0	0	36	954
ABCC12	94160	broad.mit.edu	37	16	48138236	48138236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48138236C>T	ENST00000311303.3	-	20	3062	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	906	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATTAGCCTGCCAGTGGGAGT	0.473																																						ENST00000311303.3	1.000000	0.180000	1	2.400000e-01	0.330000	0.439034	0.330000	0.300000																										0				90						c.(2716-2718)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							117.0	111.0	113.0					16																	48138236		2201	4300	6501	SO:0001583	missense	94160	0	0					g.chr16:48138236C>T	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.2717G>A	chr16.hg19:g.48138236C>T	ENSP00000311030:p.Gly906Asp	0					ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	p.G906D	NM_033226.2	NP_150229.2	1	2	3	2.056757	Q96J65	MRP9_HUMAN		20	3062	-		all_cancers(37;0.0474)|all_lung(18;0.047)	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	1	1	hg19	c.2717G>A	CCDS10730.1	0	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910898	0.92178	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.97772	-4.53	5.55	5.55	0.83447	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.103764	0.64402	D	0.000003	D	0.99089	0.9687	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	16.4256	0.83813	0.0:1.0:0.0:0.0	.	906	Q96J65	MRP9_HUMAN	D	906;824	ENSP00000311030:G906D	ENSP00000311030:G906D	G	-	2	0	0	ABCC12	46695737	46695737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.840000	0.75369	2.594000	0.87642	0.655000	0.94253	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-2.749816	1	0.170000	NM_033226			16	14		614	602	0		1			0	0	136	0		9.999202e-01	0	0	0	0	0	0	16	614
ABCC12	94160	broad.mit.edu	37	16	48149406	48149406	+	Missense_Mutation	SNP	C	C	T	rs147110729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48149406C>T	ENST00000311303.3	-	13	2254	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ABCC12_ENST00000416054.1_Silent_p.T612T|ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	637	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)			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)				TGCTTCCCCACGTGGGCGTCC	0.622																																						ENST00000311303.3	1.000000	0.120000	1	1.700000e-01	0.230000	0.365601	0.230000	0.220000																										0				90						c.(1909-1911)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							135.0	123.0	127.0					16																	48149406		2201	4300	6501	SO:0001583	missense	94160	5	121412	42				g.chr16:48149406C>T	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.1909G>A	chr16.hg19:g.48149406C>T	ENSP00000311030:p.Val637Met	0					ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	p.V637M	NM_033226.2	NP_150229.2	1	2	3	2.056757	Q96J65	MRP9_HUMAN		13	2254	-		all_cancers(37;0.0474)|all_lung(18;0.047)	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	0	1	hg19	c.1909G>A	CCDS10730.1	0	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937206	0.52972	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81078	-1.45;-1.45	5.24	4.28	0.50868	5.24	4.28	0.50868	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88899	0.3351	10	0.87932	D	0	.	14.5334	0.67942	0.1479:0.852:0.0:0.0	.	637	Q96J65	MRP9_HUMAN	M	637;637;579	ENSP00000311030:V637M;ENSP00000401855:V637M	ENSP00000311030:V637M	V	-	1	0	0	ABCC12	46706907	46706907	1.000000	0.71417	0.973000	0.42090	0.012000	0.07955	4.659000	0.61504	1.323000	0.45263	-0.470000	0.05040	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-8.811485	1	0.170000	NM_033226			12	12		655	648	0		1			0	0	135	0		9.990634e-01	0	0	0	0	0	0	12	655
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	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)			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)	AACAGGACGGCGATCACCATT	0.463																																						ENST00000394747.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				83						c.(2848-2850)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11	Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)						104.0	87.0	93.0					16																	48221197		2201	4300	6501	SO:0001583	missense	85320	0	0					g.chr16:48221197C>T	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.2848G>A	chr16.hg19:g.48221197C>T	ENSP00000378230:p.Ala950Thr	0					ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR	p.A950T	NM_033151.3	NP_149163.2	1	2	3	2.056757	Q96J66	ABCCB_HUMAN		20	3197	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	1	1	hg19	c.2848G>A	CCDS10732.1	1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700967	0.68501	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.0	-10.0	0.00425	5.0	-10.0	0.00425	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.985385	0.08272	N	0.971317	D	0.85678	0.5752	M	0.68317	2.08	0.09310	N	1	B;P	0.38020	0.098;0.615	B;B	0.40199	0.008;0.322	T	0.75311	-0.3362	10	0.33940	T	0.23	0.3528	6.9598	0.24591	0.2208:0.4704:0.0:0.3088	.	950;950	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	950	ENSP00000311326:A950T;ENSP00000349017:A950T;ENSP00000378231:A950T;ENSP00000378230:A950T	ENSP00000311326:A950T	A	-	1	0	0	ABCC11	46778698	46778698	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-2.090000	0.00859	0.563000	0.77884	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.223651	1	0.170000	NM_032583			43	42		263	261	1		1	0		0	0	59	0		1	0	0	1	0	0	0	43	263
LONP2	83752	broad.mit.edu	37	16	48290601	48290601	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403																																						ENST00000285737.4	1.000000	0.300000	1	4.000000e-01	0.540000	0.604694	0.540000	0.490000																										0				31						c.(547-549)ttA>ttG		lon peptidase 2, peroxisomal							108.0	106.0	107.0					16																	48290601		2200	4300	6500	SO:0001819	synonymous_variant	83752	0	0					g.chr16:48290601A>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.549A>G	chr16.hg19:g.48290601A>G		0					LONP2_ENST00000535754.1_Intron	p.L183L	NM_031490.2	NP_113678.2	1	2	3	2.056757				3	642	+				Silent	SNP	ENST00000285737.4	1	1	hg19	c.549A>G	CCDS10734.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-4.220227	1	0.170000	NM_031490			15	15		347	343	0		1	1		0	0	64	0		9.998685e-01	9.660402e-01	0	5	0	128	0	15	347
LONP2	83752	broad.mit.edu	37	16	48381426	48381426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498																																						ENST00000285737.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1945-1947)caG>caA		lon peptidase 2, peroxisomal							131.0	135.0	134.0					16																	48381426		2200	4300	6500	SO:0001819	synonymous_variant	83752	0	0					g.chr16:48381426G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1947G>A	chr16.hg19:g.48381426G>A		0					LONP2_ENST00000535754.1_Silent_p.Q605Q	p.Q649Q	NM_031490.2	NP_113678.2	1	2	3	2.056757				13	2040	+				Silent	SNP	ENST00000285737.4	1	1	hg19	c.1947G>A	CCDS10734.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_031490			73	71		382	371	1		1	1		0	0	88	0		1	1	0	75	0	180	0	73	382
LONP2	83752	broad.mit.edu	37	16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A	rs199759503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423																																						ENST00000285737.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2275-2277)cGg>cAg		lon peptidase 2, peroxisomal							141.0	140.0	140.0					16																	48382140		2200	4300	6500	SO:0001583	missense	83752	10	121412	46				g.chr16:48382140G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2276G>A	chr16.hg19:g.48382140G>A	ENSP00000285737:p.Arg759Gln	0					LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q|LONP2_ENST00000564259.1_3'UTR	p.R759Q	NM_031490.2	NP_113678.2	1	2	3	2.056757				14	2369	+				Missense_Mutation	SNP	ENST00000285737.4	1	1	hg19	c.2276G>A	CCDS10734.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.648787	0.96714	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.60845	1.875	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.44447	0.45;0.45	T	0.02829	-1.1105	10	0.25751	T	0.34	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	759;488;715	ENSP00000285737:R759Q;ENSP00000445426:R715Q	ENSP00000285737:R759Q	R	+	2	0	0	LONP2	46939641	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	1		2	2	2	0		0	0	169		169	167	1	2.060000	-20.000000	1	0.170000	NM_031490			139	139		652	641	1		1	1		0	0	169	0		1	1	0	47	0	162	0	139	652
LONP2	83752	broad.mit.edu	37	16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.A745V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453																																						ENST00000285737.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2365-2367)gCg>gTg		lon peptidase 2, peroxisomal							61.0	64.0	63.0					16																	48385520		2200	4300	6500	SO:0001583	missense	83752	0	0					g.chr16:48385520C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2366C>T	chr16.hg19:g.48385520C>T	ENSP00000285737:p.Ala789Val	0					LONP2_ENST00000535754.1_Missense_Mutation_p.A745V|LONP2_ENST00000564259.1_3'UTR	p.A789V	NM_031490.2	NP_113678.2	1	2	3	2.056757				15	2459	+				Missense_Mutation	SNP	ENST00000285737.4	1	1	hg19	c.2366C>T	CCDS10734.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.721766	0.96839	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87938	0.2715	10	0.87932	D	0	-18.7393	20.3938	0.98981	0.0:1.0:0.0:0.0	.	745;789	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	789;518;745	ENSP00000285737:A789V;ENSP00000445426:A745V	ENSP00000285737:A789V	A	+	2	0	0	LONP2	46943021	46943021	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	7.786000	0.85741	2.831000	0.97527	0.585000	0.79938	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.397947	1	0.170000	NM_031490			56	56		224	219	1		1	1		0	0	52	0		1	1	0	69	0	148	0	56	224
UBN1	29855	broad.mit.edu	37	16	4902975	4902975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	19	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567																																						ENST00000396658.4	1.000000	0.690000	1	8.200000e-01	0.990000	0.935322	0.990000	1.000000																										0				38						c.(55-57)gcG>gcA		ubinuclein 1							73.0	73.0	73.0					16																	4902975		2197	4300	6497	SO:0001819	synonymous_variant	29855	1	121412	33				g.chr16:4902975G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.57G>A	chr16.hg19:g.4902975G>A		0					UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A	p.A19A	NM_016936.3	NP_058632.2	1	2	3	2.056757	Q9NPG3	UBN1_HUMAN		1	760	+			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	1	1	hg19	c.57G>A	CCDS10525.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_016936			34	33		392	385	0		1	1		0	0	82	0		1	9.675436e-01	0	6	0	60	0	34	392
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642																																						ENST00000396658.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3343-3345)caG>caA		ubinuclein 1							112.0	118.0	116.0					16																	4927465		2197	4300	6497	SO:0001819	synonymous_variant	29855	0	0					g.chr16:4927465G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3345G>A	chr16.hg19:g.4927465G>A		0					UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron	p.Q1115Q	NM_016936.3	NP_058632.2	1	2	3	2.056757	Q9NPG3	UBN1_HUMAN		16	4048	+			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	1	1	hg19	c.3345G>A	CCDS10525.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	1	0	1		2	2	2	0		0	0	198		198	197	1	2.060000	-3.527839	1	0.170000	NM_016936			250	248		1001	979	1		1	1		0	0	198	0		1	1	0	26	0	69	0	250	1001
PPL	5493	broad.mit.edu	37	16	4934369	4934369	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCAGCGCTGCCAGCC	0.687																																						ENST00000345988.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(4285-4287)gcG>gcA		periplakin							54.0	56.0	55.0					16																	4934369		2171	4254	6425	SO:0001819	synonymous_variant	5493	2	120964	39				g.chr16:4934369C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4287G>A	chr16.hg19:g.4934369C>T		0					PPL_ENST00000590782.2_Silent_p.A1427A	p.A1429A	NM_002705.4	NP_002696	1	2	3	2.056757	O60437	PEPL_HUMAN		22	4376	-			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	1	1	hg19	c.4287G>A	CCDS10526.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1		2	2	2	0		0	0	140		140	136	1	2.060000	-20.000000	1	0.170000	NM_002705			162	161		630	618	1		1	1		0	0	140	0		1	9.999931e-01	0	36	0	31	0	162	630
PPL	5493	broad.mit.edu	37	16	4934822	4934822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1278					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTTTCAGGGCCTGGATTT	0.522																																						ENST00000345988.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3832-3834)gcC>gcT		periplakin							176.0	177.0	177.0					16																	4934822		2197	4300	6497	SO:0001819	synonymous_variant	5493	0	0					g.chr16:4934822G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3834C>T	chr16.hg19:g.4934822G>A		0					PPL_ENST00000590782.2_Silent_p.A1276A	p.A1278A	NM_002705.4	NP_002696	1	2	3	2.056757	O60437	PEPL_HUMAN		22	3923	-			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	1	1	hg19	c.3834C>T	CCDS10526.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-20.000000	1	0.170000	NM_002705			238	235		931	918	1		1	1		0	0	202	0		1	1	0	54	0	100	0	238	931
PPL	5493	broad.mit.edu	37	16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	797					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCTTTACAGCTTGCTGGTAC	0.512																																						ENST00000345988.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2389-2391)Gct>Tct		periplakin							349.0	342.0	344.0					16																	4938987		2197	4300	6497	SO:0001583	missense	5493	0	0					g.chr16:4938987C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2389G>T	chr16.hg19:g.4938987C>A	ENSP00000340510:p.Ala797Ser	0					PPL_ENST00000590782.2_Missense_Mutation_p.A795S	p.A797S	NM_002705.4	NP_002696	1	2	3	2.056757	O60437	PEPL_HUMAN		19	2478	-			O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	1	1	hg19	c.2389G>T	CCDS10526.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837230	0.71373	.	.	ENSG00000118898	ENST00000345988	T	0.55052	0.54	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74256	-0.3724	10	0.59425	D	0.04	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	797	O60437	PEPL_HUMAN	S	797	ENSP00000340510:A797S	ENSP00000340510:A797S	A	-	1	0	0	PPL	4878988	4878988	1.000000	0.71417	0.765000	0.31456	0.118000	0.20060	5.210000	0.65214	2.569000	0.86673	0.555000	0.69702	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1		21	2	2	0		0	1	380		380	378	1	2.060000	-20.000000	1	0.170000	NM_002705			448	438		1882	1842	1		1	1		0	0	380	0		1	1	0	81	0	76	0	448	1882
N4BP1	9683	broad.mit.edu	37	16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A	rs377500906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C	N4BP1_ENST00000565423.1_5'Flank	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	668					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363																																						ENST00000262384.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(2002-2004)Cgt>Tgt		NEDD4 binding protein 1		G	CYS/ARG	0,3780		0,0,1890	66.0	61.0	63.0		2002	5.9	0.9	16		63	1,8241		0,1,4120	no	missense	N4BP1	NM_153029.3	180	0,1,6010	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	668/897	48587468	1,12021	1890	4121	6011	SO:0001583	missense	9683	2	120826	31				g.chr16:48587468G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2002C>T	chr16.hg19:g.48587468G>A	ENSP00000262384:p.Arg668Cys	0					N4BP1_ENST00000565423.1_5'Flank	p.R668C	NM_153029.3	NP_694574.3	1	2	3	2.056757	O75113	N4BP1_HUMAN		3	2238	-		all_cancers(37;0.179)|all_lung(18;0.11)	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	1	1	hg19	c.2002C>T	CCDS45479.1	1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829345	0.71258	0.0	1.21E-4	ENSG00000102921	ENST00000262384	T	0.44881	0.91	5.93	5.93	0.95920	5.93	5.93	0.95920	Ribonuclease Zc3h12a-like (1);	0.048713	0.85682	D	0.000000	T	0.64305	0.2586	M	0.71581	2.175	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.64778	-0.6327	10	0.62326	D	0.03	-17.7326	15.8935	0.79318	0.0:0.0:0.8641:0.1359	.	668	O75113	N4BP1_HUMAN	C	668	ENSP00000262384:R668C	ENSP00000262384:R668C	R	-	1	0	0	N4BP1	47144969	47144969	0.996000	0.38824	0.925000	0.36789	0.994000	0.84299	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-18.952020	1	0.170000	NM_014664			26	25		92	88	1		1	1		0	0	43	0		1	1	0	25	0	99	0	26	92
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20790	0.0		0.0	False		,,,				2504	0.0					ENST00000299191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(79-81)cGc>cAc		chromosome 16 open reading frame 78		G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141.0	124.0	130.0		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG		0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense	123970	15	121412	43				g.chr16:49407930G>A	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.80G>A	chr16.hg19:g.49407930G>A	ENSP00000299191:p.Arg27His	0						p.R27H	NM_144602.2	NP_653203.1	1	2	3	2.056757	Q8WTQ4	CP078_HUMAN		1	197	+				Missense_Mutation	SNP	ENST00000299191.3	1	1	hg19	c.80G>A	CCDS10738.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	0	C16orf78	47965431	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	1	0	1		2	2	2	0		0	0	106		106	101	1	2.060000	-2.966797	1	0.170000	NM_144602			80	77		473	455	1		1			0	0	106	0		1	0	0	0	0	0	0	80	473
PPL	5493	broad.mit.edu	37	16	4945601	4945601	+	Silent	SNP	C	C	T	rs372300152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	ENST00000345988.2	-	10	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PPL_ENST00000590782.2_Silent_p.E361E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	363					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCACATCCAGCTCCCGCAGCA	0.657																																						ENST00000345988.2	1.000000	0.300000	1	4.000000e-01	0.540000	0.608220	0.540000	0.490000																										0				62						c.(1087-1089)gaG>gaA		periplakin		C		1,4393		0,1,2196	81.0	65.0	71.0		1089	1.3	1.0	16		71	0,8600		0,0,4300	no	coding-synonymous	PPL	NM_002705.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		363/1757	4945601	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	5493	0	0					g.chr16:4945601C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1089G>A	chr16.hg19:g.4945601C>T		0					PPL_ENST00000590782.2_Silent_p.E361E	p.E363E	NM_002705.4	NP_002696	1	2	3	2.056757	O60437	PEPL_HUMAN		10	1178	-			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	1	1	hg19	c.1089G>A	CCDS10526.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-15.770090	1	0.170000	NM_002705			15	15		344	335	0		1	1		0	0	60	0		9.998537e-01	9.330202e-01	0	5	0	103	0	15	344
C16orf78	123970	broad.mit.edu	37	16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A	rs182553423	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		20957	0.002		0.0	False		,,,				2504	0.0					ENST00000299191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(679-681)cGg>cAg		chromosome 16 open reading frame 78							128.0	106.0	113.0					16																	49433071		2199	4300	6499	SO:0001583	missense	123970	13	121412	43				g.chr16:49433071G>A	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.680G>A	chr16.hg19:g.49433071G>A	ENSP00000299191:p.Arg227Gln	0						p.R227Q	NM_144602.2	NP_653203.1	1	2	3	2.056757	Q8WTQ4	CP078_HUMAN		5	797	+				Missense_Mutation	SNP	ENST00000299191.3	1	1	hg19	c.680G>A	CCDS10738.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.16	1.557611	0.27827	.	.	ENSG00000166152	ENST00000299191	T	0.52983	0.64	5.47	0.731	0.18277	5.47	0.731	0.18277	.	1.434460	0.04753	N	0.424991	T	0.41719	0.1171	L	0.54323	1.7	0.09310	N	1	P	0.46952	0.887	B	0.39258	0.295	T	0.36529	-0.9744	9	.	.	.	-25.0095	6.4856	0.22087	0.6281:0.0:0.3719:0.0	.	227	Q8WTQ4	CP078_HUMAN	Q	227	ENSP00000299191:R227Q	.	R	+	2	0	0	C16orf78	47990572	47990572	0.006000	0.16342	0.049000	0.19019	0.561000	0.35649	0.752000	0.26362	0.202000	0.20498	0.561000	0.74099	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-2.615518	1	0.170000	NM_144602			61	61		289	286	1		1			0	0	89	0		1	0	0	0	0	0	0	61	289
ZNF423	23090	broad.mit.edu	37	16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					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.G1253W(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)				TCCTCCTGCCCGTGCACGGCA	0.612																																						ENST00000561648.1	1.000000	0.240000	1	3.400000e-01	0.490000	0.568601	0.490000	0.430000																										2	Substitution - Missense(2)	p.G1253W(2)	lung(2)	89						c.(3757-3759)Ggg>Agg		zinc finger protein 423							173.0	119.0	137.0					16																	49557603		2199	4300	6499	SO:0001583	missense	23090	0	0					g.chr16:49557603C>T	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.3757G>A	chr16.hg19:g.49557603C>T	ENSP00000455426:p.Gly1253Arg	0					ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R	p.G1253R	NM_001271620.1	NP_001258549.1	1	2	3	2.056757	Q2M1K9	ZN423_HUMAN		7	3810	-		all_cancers(37;0.0155)	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	1	1	hg19	c.3757G>A	CCDS32445.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	0	ZNF423	48115104	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.347716	0	0.170000	NM_015069			10	10		260	256	0		1	0		0	0	70	0		9.967974e-01	1.956630e-01	0	0	0	20	0	10	260
ZNF423	23090	broad.mit.edu	37	16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					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)			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)				TGTCCGTTGGCGCTGCGGGCC	0.697																																						ENST00000561648.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(3298-3300)Gcc>Acc		zinc finger protein 423							16.0	18.0	17.0					16																	49669765		2196	4293	6489	SO:0001583	missense	23090	1	120794	27				g.chr16:49669765C>T	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.3298G>A	chr16.hg19:g.49669765C>T	ENSP00000455426:p.Ala1100Thr	0					ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T	p.A1100T	NM_001271620.1	NP_001258549.1	1	2	3	2.056757	Q2M1K9	ZN423_HUMAN		4	3351	-		all_cancers(37;0.0155)	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	1	1	hg19	c.3298G>A	CCDS32445.1	1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408956	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07800	3.16;3.18	5.16	1.7	0.24286	5.16	1.7	0.24286	.	0.098188	0.64402	D	0.000002	T	0.02083	0.0065	N	0.01576	-0.805	0.31995	N	0.604178	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	.	.	.	-16.2003	2.3233	0.04216	0.3978:0.3609:0.0:0.2413	.	1100	Q2M1K9	ZN423_HUMAN	T	1100;983	ENSP00000262383:A1100T;ENSP00000442321:A983T	.	A	-	1	0	0	ZNF423	48227266	48227266	0.997000	0.39634	0.832000	0.32986	0.886000	0.51366	1.701000	0.37825	0.557000	0.29117	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_015069			43	43		194	192	0		1	0		0	0	32	0		1	1.582426e-01	0	0	0	4	0	43	194
ZNF423	23090	broad.mit.edu	37	16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	991					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)			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)				CTTGCAGATGCGACAGGTGCC	0.597																																						ENST00000561648.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(2971-2973)cGc>cAc		zinc finger protein 423							55.0	50.0	51.0					16																	49670091		2199	4300	6499	SO:0001583	missense	23090	1	121406	30				g.chr16:49670091C>T	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.2972G>A	chr16.hg19:g.49670091C>T	ENSP00000455426:p.Arg991His	0					ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H	p.R991H	NM_001271620.1	NP_001258549.1	1	2	3	2.056757	Q2M1K9	ZN423_HUMAN		4	3025	-		all_cancers(37;0.0155)	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	1	1	hg19	c.2972G>A	CCDS32445.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523857	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09911	2.93;2.97	4.81	4.81	0.61882	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.24115	0.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.07501	-1.0769	9	.	.	.	-48.8797	17.8857	0.88854	0.0:1.0:0.0:0.0	.	991	Q2M1K9	ZN423_HUMAN	H	991;874	ENSP00000262383:R991H;ENSP00000442321:R874H	.	R	-	2	0	0	ZNF423	48227592	48227592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.234000	0.73211	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015069			40	40		177	172	1		1	0		0	0	40	0		1	8.200903e-01	0	0	0	16	0	40	177
HEATR3	55027	broad.mit.edu	37	16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	133										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388																																						ENST00000299192.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(397-399)Gag>Tag		HEAT repeat containing 3							262.0	231.0	241.0					16																	50102776		2198	4300	6498	SO:0001587	stop_gained	55027	0	0					g.chr16:50102776G>T	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.397G>T	chr16.hg19:g.50102776G>T	ENSP00000299192:p.Glu133*	0					HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*|RP11-429P3.3_ENST00000568130.2_RNA	p.E133*	NM_182922.2	NP_891552.1	1	2	3	2.056757	Q7Z4Q2	HEAT3_HUMAN		3	588	+			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	0	1	hg19	c.397G>T	CCDS10739.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.720586	0.96839	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.44	4.47	0.54385	5.44	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4935	0.75632	0.0:0.0:0.8603:0.1397	.	.	.	.	X	47;133	.	ENSP00000285767:E47X	E	+	1	0	0	HEATR3	48660277	48660277	1.000000	0.71417	0.964000	0.40570	0.617000	0.37484	8.696000	0.91302	1.274000	0.44362	0.655000	0.94253	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-3.499042	1	0.170000	NM_182922			158	155		638	626	1		1	1		0	0	169	0		1	9.828812e-01	0	4	0	24	0	158	638
HEATR3	55027	broad.mit.edu	37	16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	160										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408																																						ENST00000299192.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				28						c.(478-480)gCc>gTc		HEAT repeat containing 3							106.0	97.0	100.0					16																	50104168		2198	4300	6498	SO:0001583	missense	55027	0	0					g.chr16:50104168C>T	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.479C>T	chr16.hg19:g.50104168C>T	ENSP00000299192:p.Ala160Val	0					HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	p.A160V	NM_182922.2	NP_891552.1	1	2	3	2.056757	Q7Z4Q2	HEAT3_HUMAN		4	670	+			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	1	1	hg19	c.479C>T	CCDS10739.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483595	0.84854	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.63913	-0.07;-0.07	5.73	5.73	0.89815	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.55481	1.735	0.80722	D	1	P;D	0.89917	0.885;1.0	P;D	0.83275	0.465;0.996	T	0.64441	-0.6407	10	0.06757	T	0.87	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	74;160	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	74;160	ENSP00000285767:A74V;ENSP00000299192:A160V	ENSP00000285767:A74V	A	+	2	0	0	HEATR3	48661669	48661669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.510000	0.73729	2.861000	0.98227	0.655000	0.94253	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.755190	1	0.170000	NM_182922			41	41		238	233	1		1	0		0	0	60	0		1	9.494151e-01	0	1	0	30	0	41	238
HEATR3	55027	broad.mit.edu	37	16	50106618	50106618	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50106618T>G	ENST00000299192.7	+	5	806	c.615T>G	c.(613-615)atT>atG	p.I205M	HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	205										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACCTGGCTATTTCAGTAGGTA	0.358																																						ENST00000299192.7	1.000000	0.240000	1	3.400000e-01	0.480000	0.558629	0.480000	0.430000																										0				28						c.(613-615)atT>atG		HEAT repeat containing 3							174.0	161.0	165.0					16																	50106618		2198	4300	6498	SO:0001583	missense	55027	0	0					g.chr16:50106618T>G	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.615T>G	chr16.hg19:g.50106618T>G	ENSP00000299192:p.Ile205Met	0					HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	p.I205M	NM_182922.2	NP_891552.1	1	2	3	2.056757	Q7Z4Q2	HEAT3_HUMAN		5	806	+			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	0	1	hg19	c.615T>G	CCDS10739.1	0	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428511	0.43122	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.39406	1.08;1.08	5.65	3.38	0.38709	5.65	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.142732	0.64402	D	0.000012	T	0.53174	0.1780	M	0.74258	2.255	0.39974	D	0.974838	P;P	0.46512	0.879;0.624	P;B	0.53593	0.73;0.4	T	0.53872	-0.8377	10	0.51188	T	0.08	.	8.7871	0.34827	0.0:0.1608:0.0:0.8392	.	119;205	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	M	119;205	ENSP00000285767:I119M;ENSP00000299192:I205M	ENSP00000285767:I119M	I	+	3	3	3	HEATR3	48664119	48664119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.779000	0.26746	0.508000	0.28173	0.533000	0.62120	ATT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-12.165810	1	0.170000	NM_182922			11	11		292	286	0		1	1		0	0	68	0		9.982269e-01	4.470453e-01	0	2	0	37	0	11	292
HEATR3	55027	broad.mit.edu	37	16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	648										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294																																						ENST00000299192.7	1.000000	0.650000	1	7.900000e-01	0.970000	0.918030	0.970000	1.000000																										0				28						c.(1942-1944)aaC>aaA		HEAT repeat containing 3							119.0	124.0	122.0					16																	50138873		2198	4300	6498	SO:0001583	missense	55027	0	0					g.chr16:50138873C>A	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.1944C>A	chr16.hg19:g.50138873C>A	ENSP00000299192:p.Asn648Lys	0					HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	p.N648K	NM_182922.2	NP_891552.1	1	2	3	2.056757	Q7Z4Q2	HEAT3_HUMAN		15	2135	+			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	1	1	hg19	c.1944C>A	CCDS10739.1	1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698907	0.03279	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.38560	1.13;1.19	5.88	-2.38	0.06622	5.88	-2.38	0.06622	.	0.142339	0.64402	N	0.000009	T	0.06462	0.0166	N	0.00237	-1.79	0.23107	N	0.998284	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.02654	T	1	.	2.3785	0.04348	0.5172:0.2099:0.1745:0.0985	.	562;648	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	562;648	ENSP00000285767:N562K;ENSP00000299192:N648K	ENSP00000285767:N562K	N	+	3	2	2	HEATR3	48696374	48696374	0.997000	0.39634	0.041000	0.18516	0.791000	0.44710	0.605000	0.24179	-0.777000	0.04572	-1.103000	0.02113	AAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_182922			30	30		359	353	1		1	1		0	0	79	0		1	8.889261e-01	0	13	0	35	0	30	359
ADCY7	113	broad.mit.edu	37	16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M			P51828	ADCY7_HUMAN	adenylate cyclase 7	506					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)			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)		CCGTGAGAGCGTGAGCAGTGG	0.677																																						ENST00000394697.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1516-1518)Gtg>Atg		adenylate cyclase 7							57.0	60.0	59.0					16																	50338418		2198	4300	6498	SO:0001583	missense	113	13	121370	41				g.chr16:50338418G>A	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.1516G>A	chr16.hg19:g.50338418G>A	ENSP00000378187:p.Val506Met	0					ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000537579.1_Intron	p.V506M			1	2	3	2.056757	P51828	ADCY7_HUMAN		11	1856	+		all_cancers(37;0.0127)	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	1	1	hg19	c.1516G>A	CCDS10741.1	1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500671	0.04261	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	4.84	3.85	0.44370	4.84	3.85	0.44370	.	0.219761	0.21876	U	0.067804	T	0.67487	0.2898	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.33299	0.231;0.407	B;B	0.29598	0.104;0.063	T	0.69884	-0.5024	10	0.44086	T	0.13	.	14.2036	0.65721	0.0:0.1916:0.8084:0.0	.	506;506	P51828;F5H4D1	ADCY7_HUMAN;.	M	506	ENSP00000445046:V506M;ENSP00000378187:V506M;ENSP00000254235:V506M	ENSP00000254235:V506M	V	+	1	0	0	ADCY7	48895919	48895919	0.938000	0.31826	0.732000	0.30844	0.037000	0.13140	1.432000	0.34936	2.215000	0.71742	0.491000	0.48974	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-4.663293	1	0.170000				84	84		412	401	1		1	1		0	0	72	0		1	9.958942e-01	0	4	0	39	0	84	412
ADCY7	113	broad.mit.edu	37	16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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)		GCGGCAGCATGCCCACATTGG	0.617																																						ENST00000394697.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999001	0.990000	1.000000																										0				35						c.(2875-2877)Gcc>Acc		adenylate cyclase 7							91.0	66.0	74.0					16																	50348221		2198	4300	6498	SO:0001583	missense	113	2	121412	29				g.chr16:50348221G>A	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.2875G>A	chr16.hg19:g.50348221G>A	ENSP00000378187:p.Ala959Thr	0					ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T	p.A959T			1	2	3	2.056757	P51828	ADCY7_HUMAN		24	3215	+		all_cancers(37;0.0127)	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	1	1	hg19	c.2875G>A	CCDS10741.1	1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368059	0.24771	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29397	1.57;1.57	4.95	1.89	0.25635	4.95	1.89	0.25635	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.156878	0.29059	U	0.013273	T	0.19327	0.0464	N	0.25380	0.74	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.06826	-1.0805	10	0.20519	T	0.43	.	10.9179	0.47148	0.1706:0.0:0.8294:0.0	.	959	P51828	ADCY7_HUMAN	T	959	ENSP00000378187:A959T;ENSP00000254235:A959T	ENSP00000254235:A959T	A	+	1	0	0	ADCY7	48905722	48905722	0.997000	0.39634	0.324000	0.25361	0.928000	0.56348	3.267000	0.51577	0.278000	0.22164	0.650000	0.86243	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				33	33		243	241	1		1	1		0	0	50	0		1	9.911390e-01	0	14	0	43	0	33	243
SEC14L5	9717	broad.mit.edu	37	16	5041991	5041991	+	Silent	SNP	T	T	C	rs373345210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	209						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697																																						ENST00000251170.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				29						c.(625-627)cgT>cgC		SEC14-like 5 (S. cerevisiae)							11.0	12.0	12.0					16																	5041991		1904	4094	5998	SO:0001819	synonymous_variant	9717	0	0					g.chr16:5041991T>C	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.627T>C	chr16.hg19:g.5041991T>C		0						p.R209R	NM_014692.1	NP_055507.1	1	2	3	2.056757	O43304	S14L5_HUMAN		6	807	+				Silent	SNP	ENST00000251170.7	0	1	hg19	c.627T>C	CCDS45403.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000				15	15		44	44	1		1			0	0	9	0		9.999435e-01	0	0	0	0	0	0	15	44
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	rs369407626		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637																																						ENST00000251170.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1171-1173)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)		C	TRP/ARG	0,3876		0,0,1938	41.0	48.0	46.0		1171	1.2	1.0	16		46	1,8273		0,1,4136	no	missense	SEC14L5	NM_014692.1	101	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	391/697	5053443	1,12149	1938	4137	6075	SO:0001583	missense	9717	3	120904	33				g.chr16:5053443C>T	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.1171C>T	chr16.hg19:g.5053443C>T	ENSP00000251170:p.Arg391Trp	0						p.R391W	NM_014692.1	NP_055507.1	1	2	3	2.056757	O43304	S14L5_HUMAN		11	1351	+				Missense_Mutation	SNP	ENST00000251170.7	1	1	hg19	c.1171C>T	CCDS45403.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	2	SEC14L5	4993444	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.412159	1	0.170000				83	82		330	323	1		1			0	0	69	0		1	0	0	0	0	0	0	83	330
BRD7	29117	broad.mit.edu	37	16	50402680	50402680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.G2G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	2					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771																																						ENST00000394688.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(4-6)ggC>ggT		bromodomain containing 7							24.0	23.0	24.0					16																	50402680		2179	4254	6433	SO:0001819	synonymous_variant	29117	0	0					g.chr16:50402680G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.6C>T	chr16.hg19:g.50402680G>A		0					RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.G2G	p.G2G			1	2	3	2.056757	Q9NPI1	BRD7_HUMAN		1	165	-		all_cancers(37;0.0127)	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	1	1	hg19	c.6C>T	CCDS10742.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_013263			52	52		204	200	0		1	1		0	0	29	0		1	9.760242e-01	0	9	0	16	0	52	204
NKD1	85407	broad.mit.edu	37	16	50583467	50583467	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		RP11-401P9.1_ENST00000569940.2_RNA|NKD1_ENST00000564336.1_Splice_Site	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652																																						ENST00000268459.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999220	0.990000	1.000000																										0				23						c.e3+1		naked cuticle homolog 1 (Drosophila)							18.0	19.0	18.0					16																	50583467		2196	4299	6495	SO:0001630	splice_region_variant	85407	0	0					g.chr16:50583467G>A	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.192+1G>A	chr16.hg19:g.50583467G>A		0					NKD1_ENST00000564336.1_Splice_Site|RP11-401P9.1_ENST00000569940.2_RNA		NM_033119.4	NP_149110.1	1	2	3	2.056757	Q969G9	NKD1_HUMAN		3	416	+		all_cancers(37;0.229)	B2RC39|Q8WZ08	Splice_Site	SNP	ENST00000268459.3	0	1	hg19		CCDS10743.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924349	0.52653	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.04	4.04	0.47022	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3982	0.60868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NKD1	49140968	49140968	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.869000	0.63028	2.263000	0.75096	0.313000	0.20887	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000		Intron		15	15		80	78	1		1	0		0	0	15	0		9.999032e-01	0	0	0	0	1	0	15	80
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642																																						ENST00000268459.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1006-1008)cGg>cAg		naked cuticle homolog 1 (Drosophila)							72.0	83.0	79.0					16																	50667286		2198	4300	6498	SO:0001583	missense	85407	3	121412	39				g.chr16:50667286G>A	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.1007G>A	chr16.hg19:g.50667286G>A	ENSP00000268459:p.Arg336Gln	0						p.R336Q	NM_033119.4	NP_149110.1	1	2	3	2.056757	Q969G9	NKD1_HUMAN		10	1231	+		all_cancers(37;0.229)	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	1	1	hg19	c.1007G>A	CCDS10743.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308309	0.81247	.	.	ENSG00000140807	ENST00000268459	T	0.69435	-0.4	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.79851	0.4517	M	0.74881	2.28	0.46586	D	0.999114	D	0.76494	0.999	D	0.65323	0.934	T	0.82922	-0.0217	10	0.72032	D	0.01	-23.2055	15.4353	0.75140	0.0:0.0:1.0:0.0	.	336	Q969G9	NKD1_HUMAN	Q	336	ENSP00000268459:R336Q	ENSP00000268459:R336Q	R	+	2	0	0	NKD1	49224787	49224787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.636000	0.74299	2.297000	0.77311	0.585000	0.79938	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	1		19	3	2	1		1	1	112		112	112	1	2.060000	-2.511951	1	0.170000				106	106		535	524	1		1	0		1	0	112	0		1	8.449111e-01	0	0	0	27	0	106	535
NOD2	64127	broad.mit.edu	37	16	50733613	50733613	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAATAAGGGTACTTGGGCCT	0.657																																						ENST00000300589.2	1.000000	0.290000	1	3.800000e-01	0.510000	0.585832	0.510000	0.470000																										0				52						c.(286-288)ggT>ggC		nucleotide-binding oligomerization domain containing 2							36.0	40.0	39.0					16																	50733613		2198	4300	6498	SO:0001819	synonymous_variant	64127	0	0					g.chr16:50733613T>C	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.288T>C	chr16.hg19:g.50733613T>C		0					NOD2_ENST00000526417.2_3'UTR	p.G96G	NM_022162.1	NP_071445.1	1	2	3	2.056757	Q9HC29	NOD2_HUMAN		2	393	+		all_cancers(37;0.0156)	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	1	1	hg19	c.288T>C	CCDS10746.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	0	0	1		2	2	2	1		1	0	54		54	54	1	2.060000	-16.500420	1	0.170000	NM_022162			16	16		387	376	0		1	0		1	0	54	0		9.999206e-01	1.693523e-02	0	0	0	5	0	16	387
NOD2	64127	broad.mit.edu	37	16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622																																						ENST00000300589.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.998359	0.990000	1.000000																										0				52						c.(1375-1377)cGc>cAc		nucleotide-binding oligomerization domain containing 2							68.0	72.0	70.0					16																	50745198		2198	4299	6497	SO:0001583	missense	64127	1	121412	33				g.chr16:50745198G>A	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.1376G>A	chr16.hg19:g.50745198G>A	ENSP00000300589:p.Arg459His	0					RP11-327F22.6_ENST00000602304.1_RNA	p.R459H	NM_022162.1	NP_071445.1	1	2	3	2.056757	Q9HC29	NOD2_HUMAN		4	1481	+		all_cancers(37;0.0156)	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	1	1	hg19	c.1376G>A	CCDS10746.1	1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470983	0.01044	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78003	-1.14	5.12	2.32	0.28847	5.12	2.32	0.28847	.	0.954894	0.08725	N	0.902954	T	0.51958	0.1705	N	0.03948	-0.315	0.25087	N	0.990887	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.0;0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	6.681	0.23119	0.5308:0.0:0.4692:0.0	.	243;432;459	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	H	432;459	ENSP00000300589:R459H	ENSP00000300589:R459H	R	+	2	0	0	NOD2	49302699	49302699	0.712000	0.27916	0.723000	0.30687	0.042000	0.13812	3.150000	0.50662	0.267000	0.21916	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	0	0	1		2	2	2	0		0	0	141		141	137	1	2.060000	-19.901420	1	0.170000	NM_022162			68	68		596	583	0		1	0		0	0	141	0		1	1.590174e-01	0	0	0	7	0	68	596
NOD2	64127	broad.mit.edu	37	16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	557	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637																																						ENST00000300589.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1669-1671)gGc>gAc		nucleotide-binding oligomerization domain containing 2							34.0	34.0	34.0					16																	50745492		2198	4300	6498	SO:0001583	missense	64127	0	0					g.chr16:50745492G>A	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.1670G>A	chr16.hg19:g.50745492G>A	ENSP00000300589:p.Gly557Asp	0					RP11-327F22.6_ENST00000602304.1_RNA	p.G557D	NM_022162.1	NP_071445.1	1	2	3	2.056757	Q9HC29	NOD2_HUMAN		4	1775	+		all_cancers(37;0.0156)	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	1	1	hg19	c.1670G>A	CCDS10746.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593940	0.66219	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.74526	-0.85	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000008	D	0.88804	0.6536	M	0.93106	3.38	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91025	0.4860	10	0.66056	D	0.02	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	341;530;557	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	D	530;557	ENSP00000300589:G557D	ENSP00000300589:G557D	G	+	2	0	0	NOD2	49302993	49302993	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.344000	0.65981	2.399000	0.81585	0.556000	0.70494	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_022162			49	50		189	187	1		1	0		0	0	37	0		1	3.648934e-01	0	0	0	6	0	49	189
NOD2	64127	broad.mit.edu	37	16	50746021	50746021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	733					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)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677																																						ENST00000300589.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2197-2199)gtG>gtA		nucleotide-binding oligomerization domain containing 2							62.0	54.0	57.0					16																	50746021		2198	4300	6498	SO:0001819	synonymous_variant	64127	0	0					g.chr16:50746021G>A	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.2199G>A	chr16.hg19:g.50746021G>A		0					RP11-327F22.6_ENST00000602304.1_RNA	p.V733V	NM_022162.1	NP_071445.1	1	2	3	2.056757	Q9HC29	NOD2_HUMAN		4	2304	+		all_cancers(37;0.0156)	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	1	1	hg19	c.2199G>A	CCDS10746.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_022162			66	64		306	301	1		1	0		0	0	67	0		1	8.553191e-02	0	0	0	3	0	66	306
NAGPA	51172	broad.mit.edu	37	16	5083700	5083700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	ENST00000312251.3	-	2	135	c.116C>T	c.(115-117)cCc>cTc	p.P39L	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	39					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761																																						ENST00000312251.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.995670	0.990000	1.000000																										0				12						c.(115-117)cCc>cTc		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						6.0	9.0	8.0					16																	5083700		1786	3666	5452	SO:0001583	missense	51172	0	0					g.chr16:5083700G>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.116C>T	chr16.hg19:g.5083700G>A	ENSP00000310998:p.Pro39Leu	0					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR	p.P39L	NM_016256.3	NP_057340.2	1	2	3	2.056757	Q9UK23	NAGPA_HUMAN		2	135	-			B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	0	1	hg19	c.116C>T	CCDS10527.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671262	0.88348	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.38240	1.15;1.43	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.96	T	0.63395	-0.6647	10	0.87932	D	0	-24.0811	16.9798	0.86324	0.0:0.0:1.0:0.0	.	39;39	B4DZG9;Q9UK23	.;NAGPA_HUMAN	L	39	ENSP00000310998:P39L;ENSP00000371381:P39L	ENSP00000310998:P39L	P	-	2	0	0	NAGPA	5023701	5023701	1.000000	0.71417	0.967000	0.41034	0.135000	0.20990	7.063000	0.76714	2.414000	0.81942	0.650000	0.86243	CCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_016256			14	14		93	90	0		1	0		0	0	9	0		9.997841e-01	5.391881e-02	0	1	0	2	0	14	93
CYLD	1540	broad.mit.edu	37	16	50815323	50815323	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000427738.3	+	9	1889		c.e9+1		CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000564326.1_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						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)			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)				AACTCTTTAGGTATTTGGATG	0.383			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000427738.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial cylindromatosis	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	16q12-q13	1540	Mis, N, F, S	familial cylindromatosis gene				E	E		cylindroma	cylindroma		0				62						c.e9+1		cylindromatosis (turban tumor syndrome)							107.0	98.0	101.0					16																	50815323		1882	4115	5997	SO:0001630	splice_region_variant	1540	0	0		Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	g.chr16:50815323G>T	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.1684+1G>T	chr16.hg19:g.50815323G>T		0					CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000568704.2_Intron|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site				1	2	3	2.056757	Q9NQC7	CYLD_HUMAN		9	1889	+		all_cancers(37;0.0156)	O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	ENST00000427738.3	1	1	hg19		CCDS45482.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750995	0.89753	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.97	5.97	0.96955	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CYLD	49372824	49372824	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.414000	0.97362	2.836000	0.97738	0.655000	0.94253	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000		Intron		45	45		229	224	1		1	0		0	0	50	0		1	2.827918e-02	0	0	0	2	0	45	229
SALL1	6299	broad.mit.edu	37	16	51174870	51174870	+	Silent	SNP	G	G	T	rs554599187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000251020.4	-	2	1296	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.A324A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	421					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)			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)			GCTGGGCCAAGGCAGACAAGG	0.493																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000251020.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126	GRCh37	CD054417	SALL1	D		c.(1261-1263)gcC>gcA		spalt-like transcription factor 1							101.0	102.0	102.0					16																	51174870		2198	4300	6498	SO:0001819	synonymous_variant	6299	0	0					g.chr16:51174870G>T	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.1263C>A	chr16.hg19:g.51174870G>T		0					SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.A324A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.A421A	NM_002968.2	NP_002959.2	1	2	3	2.056757	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)	2	1296	-		all_cancers(37;0.0322)	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	1	1	hg19	c.1263C>A	CCDS10747.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-20.000000	1	0.170000	NM_002968			101	100		497	482	1		1	0		0	0	115	0		1	1.371720e-01	0	0	0	4	0	101	497
TOX3	27324	broad.mit.edu	37	16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	427					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532																																						ENST00000219746.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1279-1281)Gca>Aca		TOX high mobility group box family member 3							123.0	120.0	121.0					16																	52473589		2185	4294	6479	SO:0001583	missense	27324	0	0					g.chr16:52473589C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1279G>A	chr16.hg19:g.52473589C>T	ENSP00000219746:p.Ala427Thr	0					TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	p.A427T	NM_001080430.2	NP_001073899.2	1	2	3	2.056757	O15405	TOX3_HUMAN		7	1563	-			B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	0	1	hg19	c.1279G>A	CCDS54009.1	1	.	.	.	.	.	.	.	.	.	.	C	2.332	-0.353204	0.05173	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10099	2.94;2.91	5.85	2.76	0.32466	5.85	2.76	0.32466	.	0.618951	0.16793	N	0.199299	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42103	-0.9471	10	0.12766	T	0.61	.	2.7183	0.05194	0.1109:0.4213:0.2926:0.1752	.	422;427	B4DRD0;O15405	.;TOX3_HUMAN	T	427;422	ENSP00000219746:A427T;ENSP00000385705:A422T	ENSP00000219746:A427T	A	-	1	0	0	TOX3	51031090	51031090	0.332000	0.24722	0.009000	0.14445	0.739000	0.42172	1.266000	0.33039	0.813000	0.34350	0.655000	0.94253	GCA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	0	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	XM_049037			69	67		291	285	1		1	1		0	0	73	0		1	9.959416e-01	0	15	0	23	0	69	291
CHD9	80205	broad.mit.edu	37	16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000398510.3	+	1	574	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000566029.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	163					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)			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)				CCATGACTTTGCCTTATTTCA	0.398																																						ENST00000398510.3	1.000000	0.370000	1	4.700000e-01	0.590000	0.652767	0.590000	0.560000																										0				78						c.(487-489)Gcc>Acc		chromodomain helicase DNA binding protein 9							86.0	84.0	84.0					16																	53190488		1931	4140	6071	SO:0001583	missense	80205	0	0					g.chr16:53190488G>A	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.487G>A	chr16.hg19:g.53190488G>A	ENSP00000381522:p.Ala163Thr	0					CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000566029.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T	p.A163T			1	2	3	2.056757	Q3L8U1	CHD9_HUMAN		1	574	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	1	1	hg19	c.487G>A		0	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294011	0.23564	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86230	-2.01;-2.09	5.86	3.92	0.45320	5.86	3.92	0.45320	.	0.194774	0.35805	N	0.002969	T	0.79347	0.4430	L	0.31294	0.92	0.32306	N	0.564381	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.002;0.006;0.004	T	0.76971	-0.2761	10	0.49607	T	0.09	-0.801	10.0684	0.42317	0.2052:0.0:0.7948:0.0	.	163;163;163;163	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	163	ENSP00000396345:A163T;ENSP00000381522:A163T	ENSP00000381522:A163T	A	+	1	0	0	CHD9	51747989	51747989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	0.829000	0.34733	-0.145000	0.13849	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-19.996000	1	0.170000	NM_025134			22	22		448	442	0		1	0		0	0	77	0		9.999986e-01	6.603635e-01	0	1	0	46	0	22	448
RAB11FIP3	9727	broad.mit.edu	37	16	532617	532617	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	332					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(994-996)gtG>gtA		RAB11 family interacting protein 3 (class II)							80.0	64.0	69.0					16																	532617		2202	4300	6502	SO:0001819	synonymous_variant	9727	0	0					g.chr16:532617G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.996G>A	chr16.hg19:g.532617G>A		0					RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	p.V332V	NM_014700.3	NP_055515.1	1	2	3	2.056757	O75154	RFIP3_HUMAN		4	1384	+		Hepatocellular(16;0.0218)	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	1	1	hg19	c.996G>A	CCDS32351.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_014700			65	65		242	242	1		1	1		0	0	49	0		1	9.999999e-01	0	20	0	72	0	65	242
CHD9	80205	broad.mit.edu	37	16	53191042	53191042	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000398510.3	+	1	1128	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000566029.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	347					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)			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)				ATCCTCAGGGTAATTATAGCA	0.358																																						ENST00000398510.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999912	0.990000	1.000000																										0				78						c.(1039-1041)ggT>ggC		chromodomain helicase DNA binding protein 9							42.0	39.0	40.0					16																	53191042		1851	4096	5947	SO:0001819	synonymous_variant	80205	0	0					g.chr16:53191042T>C	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.1041T>C	chr16.hg19:g.53191042T>C		0					CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000566029.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G	p.G347G			1	2	3	2.056757	Q3L8U1	CHD9_HUMAN		1	1128	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	1	1	hg19	c.1041T>C		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_025134			18	18		81	78	1		1	0		0	0	26	0		9.999875e-01	9.382434e-01	0	0	0	24	0	18	81
CHD9	80205	broad.mit.edu	37	16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A	rs375430251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000398510.3	+	17	3994	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000566029.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1303	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)				AGCAGTTAAAGTCTACAGACT	0.388																																						ENST00000398510.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3907-3909)Gtc>Atc		chromodomain helicase DNA binding protein 9		G	ILE/VAL	1,3715		0,1,1857	179.0	172.0	174.0		3907	5.5	1.0	16		174	0,8206		0,0,4103	no	missense	CHD9	NM_025134.4	29	0,1,5960	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	1303/2882	53288395	1,11921	1858	4103	5961	SO:0001583	missense	80205	1	120820	36				g.chr16:53288395G>A	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.3907G>A	chr16.hg19:g.53288395G>A	ENSP00000381522:p.Val1303Ile	0					CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000566029.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I	p.V1303I			1	2	3	2.056757	Q3L8U1	CHD9_HUMAN		17	3994	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	1	1	hg19	c.3907G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573962	0.65765	2.69E-4	0.0	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	5.48	5.48	0.80851	Helicase, C-terminal (1);	0.000000	0.51477	D	0.000092	D	0.82788	0.5113	L	0.41124	1.26	0.80722	D	1	B;P;D;D	0.61697	0.068;0.678;0.984;0.99	B;B;D;D	0.73380	0.05;0.421;0.956;0.98	T	0.76961	-0.2765	10	0.13470	T	0.59	-8.3751	19.3515	0.94389	0.0:0.0:1.0:0.0	.	829;1303;1303;1303	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1303;1303;829	ENSP00000396345:V1303I;ENSP00000381522:V1303I	ENSP00000219084:V829I	V	+	1	0	0	CHD9	51845896	51845896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.580000	0.87095	0.650000	0.86243	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_025134			128	126		632	625	1		1	1		0	0	162	0		1	9.960033e-01	0	4	0	39	0	128	632
CHD9	80205	broad.mit.edu	37	16	53326775	53326775	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53326775A>G	ENST00000398510.3	+	28	5408	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000566029.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1774					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)			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)				GATAAAGTATATTGGCCTACT	0.368																																						ENST00000398510.3	1.000000	0.220000	1	3.100000e-01	0.430000	0.518409	0.430000	0.390000																										0				78						c.(5320-5322)tAt>tGt		chromodomain helicase DNA binding protein 9							122.0	114.0	116.0					16																	53326775		1886	4111	5997	SO:0001583	missense	80205	1	120818	28				g.chr16:53326775A>G	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.5321A>G	chr16.hg19:g.53326775A>G	ENSP00000381522:p.Tyr1774Cys	0					CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000566029.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C	p.Y1774C			1	2	3	2.056757	Q3L8U1	CHD9_HUMAN		28	5408	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	1	1	hg19	c.5321A>G		0	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960762	0.53400	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91945	-2.94;-2.94	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000098	D	0.95567	0.8559	M	0.76328	2.33	0.80722	D	1	D;B;D;D	0.89917	0.999;0.103;0.999;1.0	D;B;D;D	0.85130	0.995;0.093;0.994;0.997	D	0.95318	0.8418	10	0.45353	T	0.12	-14.8435	15.3271	0.74172	1.0:0.0:0.0:0.0	.	142;1774;1774;1774	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	C	1774;1774;142	ENSP00000396345:Y1774C;ENSP00000381522:Y1774C	ENSP00000381522:Y1774C	Y	+	2	0	0	CHD9	51884276	51884276	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.869000	0.92326	2.023000	0.59567	0.482000	0.46254	TAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	0	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-12.488130	1	0.170000	NM_025134			12	12		356	350	0		1	0		0	0	94	0		9.990617e-01	4.618863e-01	0	0	0	45	0	12	356
CHD9	80205	broad.mit.edu	37	16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000398510.3	+	30	6275	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2063					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)			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)				GAAGAAGAATCTATGTCTTCT	0.408																																						ENST00000398510.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996248	0.990000	1.000000																										0				78						c.(6187-6189)tCt>tAt		chromodomain helicase DNA binding protein 9							36.0	34.0	34.0					16																	53338106		1840	4082	5922	SO:0001583	missense	80205	0	0					g.chr16:53338106C>A	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.6188C>A	chr16.hg19:g.53338106C>A	ENSP00000381522:p.Ser2063Tyr	0					CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y	p.S2063Y			1	2	3	2.056757	Q3L8U1	CHD9_HUMAN		30	6275	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	1	1	hg19	c.6188C>A		1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843191	0.71488	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71934	-0.61;-0.61	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.099037	0.45126	D	0.000383	D	0.83308	0.5226	L	0.57536	1.79	0.53005	D	0.999963	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.80764	0.986;0.935;0.986;0.994	T	0.82645	-0.0355	10	0.72032	D	0.01	-16.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2063;2063;2063;2063	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2063	ENSP00000396345:S2063Y;ENSP00000381522:S2063Y	ENSP00000381522:S2063Y	S	+	2	0	0	CHD9	51895607	51895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.256000	0.65468	2.937000	0.99478	0.650000	0.86243	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.700260	1	0.170000	NM_025134			11	11		64	63	1		1	1		0	0	24	0		9.986623e-01	9.900208e-01	0	6	0	44	0	11	64
RBL2	5934	broad.mit.edu	37	16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	987	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512																																						ENST00000262133.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2959-2961)cCt>cAt		retinoblastoma-like 2							132.0	115.0	120.0					16																	53514557		2198	4300	6498	SO:0001583	missense	5934	0	0					g.chr16:53514557C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2960C>A	chr16.hg19:g.53514557C>A	ENSP00000262133:p.Pro987His	0					RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	p.P987H	NM_005611.3	NP_005602.3	1	2	3	2.056757	Q08999	RBL2_HUMAN		20	3097	+			B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	1	1	hg19	c.2960C>A	CCDS10748.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871245	0.91587	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.67	5.67	0.87782	5.67	5.67	0.87782	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.93;1.0	D	0.95414	0.8501	10	0.87932	D	0	-18.8095	19.7806	0.96414	0.0:1.0:0.0:0.0	.	697;987	E9PG04;Q08999	.;RBL2_HUMAN	H	987;697	ENSP00000262133:P987H	ENSP00000262133:P987H	P	+	2	0	0	RBL2	52072058	52072058	1.000000	0.71417	0.965000	0.40720	0.865000	0.49528	7.502000	0.81614	2.669000	0.90835	0.650000	0.86243	CCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-20.000000	1	0.170000	NM_005611			73	70		386	377	1		1	1		0	0	105	0		1	1	0	47	0	187	0	73	386
RBL2	5934	broad.mit.edu	37	16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1043					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333																																						ENST00000262133.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3127-3129)Ggc>Agc		retinoblastoma-like 2							77.0	68.0	71.0					16																	53515625		2198	4300	6498	SO:0001583	missense	5934	0	0					g.chr16:53515625G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3127G>A	chr16.hg19:g.53515625G>A	ENSP00000262133:p.Gly1043Ser	0					RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	p.G1043S	NM_005611.3	NP_005602.3	1	2	3	2.056757	Q08999	RBL2_HUMAN		21	3264	+			B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	0	1	hg19	c.3127G>A	CCDS10748.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367181|3.367181	0.61513|0.61513	.|.	.|.	ENSG00000103479|ENSG00000103479	ENST00000544545|ENST00000262133;ENST00000379935	.|T	.|0.53206	.|0.63	5.37|5.37	3.42|3.42	0.39159|0.39159	5.37|5.37	3.42|3.42	0.39159|0.39159	.|.	.|0.148324	.|0.64402	.|N	.|0.000011	.|T	.|0.30386	.|0.0763	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27498	.|0.017;0.18	.|B;B	.|0.23150	.|0.015;0.044	.|T	.|0.05194	.|-1.0900	.|10	.|0.22109	.|T	.|0.4	.|-5.3975	11.2464|11.2464	0.49000|0.49000	0.1955:0.0:0.8045:0.0|0.1955:0.0:0.8045:0.0	.|.	.|753;1043	.|E9PG04;Q08999	.|.;RBL2_HUMAN	.|S	-1|1043;753	.|ENSP00000262133:G1043S	.|ENSP00000262133:G1043S	.|G	+|+	.|1	.|0	.|0	RBL2|RBL2	52073126|52073126	52073126|52073126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.956000|4.956000	0.63645|0.63645	0.758000|0.758000	0.33059|0.33059	0.650000|0.650000	0.86243|0.86243	.|GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-19.945920	1	0.170000	NM_005611			35	34		148	140	1		1	1		0	0	38	0		1	1	0	32	0	161	0	35	148
AKTIP	64400	broad.mit.edu	37	16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P|AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	102					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)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383																																						ENST00000394657.7	1.000000	0.810000	1	9.800000e-01	0.990000	0.983524	0.990000	1.000000																										0				5						c.(304-306)Tct>Cct		AKT interacting protein							96.0	87.0	90.0					16																	53529183		2198	4300	6498	SO:0001583	missense	64400	0	0					g.chr16:53529183A>G	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.304T>C	chr16.hg19:g.53529183A>G	ENSP00000378152:p.Ser102Pro	0					AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P	p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	1	2	3	2.056757	Q9H8T0	AKTIP_HUMAN		4	478	-		all_cancers(37;0.14)	Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	1	1	hg19	c.304T>C	CCDS10749.1	1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896442	0.91962	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.73152	-0.72;-0.72	5.55	5.55	0.83447	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.051077	0.85682	D	0.000000	D	0.83862	0.5346	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.976	D;P;D	0.91635	0.999;0.885;0.936	D	0.85926	0.1449	10	0.87932	D	0	-4.2089	16.0135	0.80420	1.0:0.0:0.0:0.0	.	102;102;102	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	P	102	ENSP00000378152:S102P;ENSP00000300245:S102P	ENSP00000300245:S102P	S	-	1	0	0	AKTIP	52086684	52086684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.126000	0.94411	2.242000	0.73789	0.533000	0.62120	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_022476			30	29		283	277	1		1	1		0	0	61	0		1	9.993298e-01	0	10	0	98	0	30	283
AKTIP	64400	broad.mit.edu	37	16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M|AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	27					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)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423																																						ENST00000394657.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(79-81)Gtg>Atg		AKT interacting protein							116.0	110.0	112.0					16																	53532472		2198	4300	6498	SO:0001583	missense	64400	1	121412	31				g.chr16:53532472C>T	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.79G>A	chr16.hg19:g.53532472C>T	ENSP00000378152:p.Val27Met	0					AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M	p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	1	2	3	2.056757	Q9H8T0	AKTIP_HUMAN		3	253	-		all_cancers(37;0.14)	Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	1	1	hg19	c.79G>A	CCDS10749.1	1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222642	0.39300	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.82803	-1.65;-1.65	5.05	2.98	0.34508	5.05	2.98	0.34508	.	0.407215	0.27345	N	0.019790	T	0.64305	0.2586	N	0.08118	0	0.27982	N	0.935988	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.15870	0.006;0.014;0.006	T	0.58126	-0.7691	10	0.45353	T	0.12	0.9395	8.2208	0.31541	0.0:0.5872:0.3207:0.0922	.	27;27;27	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	M	27	ENSP00000378152:V27M;ENSP00000300245:V27M	ENSP00000300245:V27M	V	-	1	0	0	AKTIP	52089973	52089973	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.535000	0.45685	1.506000	0.48736	0.555000	0.69702	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	1	0	1		2	2	2	0		0	0	87		87	107	1	2.060000	-20.000000	1	0.170000	NM_022476			82	82		372	367	1		1	1		0	0	87	0		1	9.999896e-01	0	20	0	57	0	82	372
RPGRIP1L	23322	broad.mit.edu	37	16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000379925.3	-	15	1995	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R649*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	649	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.R649*(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)				TGAAGGCCTCGCACTACGGGA	0.373																																						ENST00000379925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R649*(1)	endometrium(1)	46						c.(1945-1947)Cga>Tga		RPGRIP1-like							107.0	107.0	107.0					16																	53686654		2198	4300	6498	SO:0001587	stop_gained	23322	2	121410	32				g.chr16:53686654G>A		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.1945C>T	chr16.hg19:g.53686654G>A	ENSP00000369257:p.Arg649*	0					RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R649*	p.R649*	NM_015272.2	NP_056087.2	1	2	3	2.056757	Q68CZ1	FTM_HUMAN		15	1995	-		all_cancers(37;0.0973)	A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	0	1	hg19	c.1945C>T	CCDS32447.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.623483	0.96660	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.45	3.08	0.35506	5.45	3.08	0.35506	.	1.118250	0.06586	N	0.751119	.	.	.	.	.	.	0.34598	D	0.716193	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9957	10.9132	0.47120	0.0793:0.0:0.7882:0.1325	.	.	.	.	X	649	.	ENSP00000262135:R649X	R	-	1	2	2	RPGRIP1L	52244155	52244155	0.017000	0.18338	0.838000	0.33150	0.818000	0.46254	1.447000	0.35101	1.244000	0.43870	0.563000	0.77884	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.707171	1	0.170000	NM_015272			74	73		281	277	1		1	1		0	0	86	0		1	7.025122e-01	0	2	0	9	0	74	281
FTO	79068	broad.mit.edu	37	16	54145726	54145726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	ENST00000471389.1	+	9	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_ENST00000472835.1_3'UTR|FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	473					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)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAATGTCGGCCATACTG	0.488																																						ENST00000471389.1	1.000000	0.330000	1	3.800000e-01	0.450000	0.544990	0.450000	0.440000																										0				29						c.(1417-1419)Cgg>Tgg		fat mass and obesity associated							227.0	213.0	218.0					16																	54145726		2198	4300	6498	SO:0001583	missense	79068	0	0					g.chr16:54145726C>T	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.1417C>T	chr16.hg19:g.54145726C>T	ENSP00000418823:p.Arg473Trp	0					FTO_ENST00000431610.2_Missense_Mutation_p.R74W|FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000472835.1_3'UTR|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W	p.R473W	NM_001080432.2	NP_001073901.1	1	2	3	2.056757	Q9C0B1	FTO_HUMAN		9	1639	+			A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	1	1	hg19	c.1417C>T	CCDS32448.1	0	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241272	0.39598	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855;ENST00000268349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.66	2.11	0.27256	5.66	2.11	0.27256	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.624461	0.15337	N	0.267712	T	0.26376	0.0644	N	0.21448	0.665	0.39046	D	0.960224	B	0.17268	0.021	B	0.10450	0.005	T	0.09378	-1.0677	10	0.49607	T	0.09	-7.0723	6.9537	0.24560	0.1305:0.6562:0.0:0.2133	.	473	Q9C0B1	FTO_HUMAN	W	473;177;74;74;74;95;28	ENSP00000418823:R473W;ENSP00000378142:R177W;ENSP00000415636:R74W;ENSP00000417422:R74W;ENSP00000417843:R95W	ENSP00000268349:R28W	R	+	1	2	2	FTO	52703227	52703227	0.975000	0.34042	0.516000	0.27786	0.934000	0.57294	1.033000	0.30191	0.714000	0.32081	0.655000	0.94253	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	0	0	1		2	2	2	0		0	0	231		231	230	1	2.060000	-3.041051	1	0.170000	NM_001080432			47	46		1230	1199	0		1	1		0	0	231	0		1	9.663057e-01	0	3	0	140	0	47	1230
IRX3	79191	broad.mit.edu	37	16	54317630	54317630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54317630C>T	ENST00000329734.3	-	4	2186	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	492					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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGACCAGGGCGGCGTCCAGA	0.423																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3	1.000000	0.220000	1	3.500000e-01	0.560000	0.615566	0.560000	1.000000																										0				14						c.(1474-1476)Gcc>Acc		iroquois homeobox 3							55.0	54.0	55.0					16																	54317630		2198	4300	6498	SO:0001583	missense	79191	0	0					g.chr16:54317630C>T	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.1474G>A	chr16.hg19:g.54317630C>T	ENSP00000331608:p.Ala492Thr	0						p.A492T	NM_024336.2	NP_077312.2	1	2	3	2.056757	P78415	IRX3_HUMAN		4	2186	-			Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	0	1	hg19	c.1474G>A	CCDS10750.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107366	0.77096	.	.	ENSG00000177508	ENST00000329734	T	0.61742	0.08	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.186035	0.32473	N	0.006042	T	0.66436	0.2789	L	0.39898	1.24	0.50171	D	0.999859	D	0.76494	0.999	D	0.75020	0.985	T	0.58148	-0.7687	10	0.10111	T	0.7	0.3728	18.9484	0.92630	0.0:1.0:0.0:0.0	.	492	P78415	IRX3_HUMAN	T	492	ENSP00000331608:A492T	ENSP00000331608:A492T	A	-	1	0	0	IRX3	52875131	52875131	1.000000	0.71417	0.693000	0.30195	0.879000	0.50718	6.855000	0.75445	2.554000	0.86153	0.561000	0.74099	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2	0	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-3.991706	1	0.170000				6	6		144	138	0		1	0		0	0	32	0		9.613492e-01	6.617426e-02	0	0	0	9	0	6	144
IRX5	10265	broad.mit.edu	37	16	54967479	54967479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000394636.4	+	3	1483	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_ENST00000558597.1_Silent_p.P316P|IRX5_ENST00000560154.1_Silent_p.P162P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.P381P			P78411	IRX5_HUMAN	iroquois homeobox 5	382					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)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716																																						ENST00000394636.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1144-1146)ccG>ccA		iroquois homeobox 5							10.0	12.0	11.0					16																	54967479		2165	4241	6406	SO:0001819	synonymous_variant	10265	0	0					g.chr16:54967479G>A	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.1146G>A	chr16.hg19:g.54967479G>A		0					IRX5_ENST00000558597.1_Silent_p.P316P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000560154.1_Silent_p.P162P|CTD-3032H12.2_ENST00000560487.1_lincRNA	p.P382P			1	2	3	2.056757	P78411	IRX5_HUMAN		3	1483	+			H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	1	1	hg19	c.1146G>A	CCDS10751.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				27	27		110	109	0		1	0		0	0	15	0		1	4.172662e-02	0	0	0	2	0	27	110
IRX6	79190	broad.mit.edu	37	16	55361564	55361564	+	Silent	SNP	A	A	G	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	160					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572																																						ENST00000290552.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(478-480)acA>acG		iroquois homeobox 6							105.0	79.0	88.0					16																	55361564		2198	4300	6498	SO:0001819	synonymous_variant	79190	0	0					g.chr16:55361564A>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.480A>G	chr16.hg19:g.55361564A>G		0					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.T160T	NM_024335.2	NP_077311.2	1	2	3	2.056757	P78412	IRX6_HUMAN		4	1812	+			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	1	1	hg19	c.480A>G	CCDS32449.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_024335			51	50		203	197	1		1			0	0	40	0		1	0	0	0	0	0	0	51	203
MMP2	4313	broad.mit.edu	37	16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000219070.4	+	2	853	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	115	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)			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)	TTCTTCCCTCGCAAGCCCAAG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18998	0.0		0.0	False		,,,				2504	0.0					ENST00000219070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(343-345)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Captopril(DB01197)|Marimastat(DB00786)						87.0	80.0	83.0					16																	55517011		2198	4300	6498	SO:0001583	missense	4313	3	121412	42				g.chr16:55517011G>A		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.344G>A	chr16.hg19:g.55517011G>A	ENSP00000219070:p.Arg115His	0					MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000570308.1_Missense_Mutation_p.R39H	p.R115H	NM_004530.4	NP_004521.1	1	2	3	2.056757	P08253	MMP2_HUMAN		2	853	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	1	1	hg19	c.344G>A	CCDS10752.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.82	1.458337	0.26248	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.83	0.44106	4.79	3.83	0.44106	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.301229	0.38663	N	0.001605	T	0.72366	0.3451	L	0.37630	1.12	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.68804	-0.5312	10	0.51188	T	0.08	.	13.476	0.61308	0.077:0.0:0.923:0.0	.	65;115	E9PE45;P08253	.;MMP2_HUMAN	H	115;39;65	ENSP00000219070:R115H;ENSP00000444143:R39H;ENSP00000394237:R65H	ENSP00000219070:R115H	R	+	2	0	0	MMP2	54074512	54074512	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	6.718000	0.74713	1.145000	0.42336	-0.252000	0.11476	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.855929	1	0.170000				82	82		308	304	1		1	1		0	0	89	0		1	1	0	2	0	1897	0	82	308
MMP2	4313	broad.mit.edu	37	16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000219070.4	+	7	1612	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	368	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)			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)	AGCGCCGGCCGCAGTGACGGA	0.582																																						ENST00000219070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1102-1104)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Captopril(DB01197)|Marimastat(DB00786)						109.0	97.0	101.0					16																	55523659		2198	4300	6498	SO:0001583	missense	4313	2	121412	37				g.chr16:55523659G>A		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.1103G>A	chr16.hg19:g.55523659G>A	ENSP00000219070:p.Arg368His	0					MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000570308.1_Missense_Mutation_p.R292H	p.R368H	NM_004530.4	NP_004521.1	1	2	3	2.056757	P08253	MMP2_HUMAN		7	1612	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	1	1	hg19	c.1103G>A	CCDS10752.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879572	0.91740	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53640	0.61;0.61;0.61	4.91	4.91	0.64330	4.91	4.91	0.64330	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.81826	-0.0754	10	0.87932	D	0	.	18.459	0.90731	0.0:0.0:1.0:0.0	.	318;368	E9PE45;P08253	.;MMP2_HUMAN	H	368;292;318	ENSP00000219070:R368H;ENSP00000444143:R292H;ENSP00000394237:R318H	ENSP00000219070:R368H	R	+	2	0	0	MMP2	54081160	54081160	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.813000	0.99286	2.423000	0.82170	0.655000	0.94253	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000				119	119		452	448	1		1	0		0	0	101	0		1	1	0	0	0	1673	0	119	452
CAPNS2	84290	broad.mit.edu	37	16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAACAACTTTACCAAATGATT	0.488																																						ENST00000457326.2	1.000000	0.260000	1	3.200000e-01	0.400000	0.503760	0.400000	0.390000																										0				7						c.(568-570)tAc>tGc		calpain, small subunit 2							143.0	140.0	141.0					16																	55601237		1891	4112	6003	SO:0001583	missense	84290	0	0					g.chr16:55601237A>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.569A>G	chr16.hg19:g.55601237A>G	ENSP00000400882:p.Tyr190Cys	0					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.Y190C	NM_032330.1	NP_115706.1	1	2	3	2.056757	Q96L46	CPNS2_HUMAN		1	654	+			Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	1	1	hg19	c.569A>G	CCDS54010.1	0	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627736	0.28978	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.42268	0.1195	L	0.42744	1.35	0.09310	N	0.999998	B	0.26809	0.16	B	0.26969	0.075	T	0.40664	-0.9551	9	0.62326	D	0.03	.	11.0497	0.47880	0.923:0.0:0.077:0.0	.	190	Q96L46	CPNS2_HUMAN	C	190	ENSP00000400882:Y190C	ENSP00000400882:Y190C	Y	+	2	0	0	CAPNS2	54158738	54158738	1.000000	0.71417	0.452000	0.26994	0.840000	0.47671	2.419000	0.44671	2.288000	0.76882	0.528000	0.53228	TAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	0	0	1		2	2	2	0		0	0	187		187	186	1	2.060000	-19.999290	1	0.170000	NM_032330			28	27		838	821	0		1	0		0	0	187	0		1	1.153399e-03	0	0	0	2	0	28	838
SLC6A2	6530	broad.mit.edu	37	16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	205					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)			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)	GTACTCCAAGTACAAGTTCAC	0.567																																						ENST00000379906.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(613-615)Tac>Cac		solute carrier family 6 (neurotransmitter transporter), member 2	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)						100.0	87.0	91.0					16																	55706056		2198	4300	6498	SO:0001583	missense	6530	0	0					g.chr16:55706056T>C		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.613T>C	chr16.hg19:g.55706056T>C	ENSP00000369237:p.Tyr205His	0					SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H	p.Y205H	NM_001043.3	NP_001034.1	1	2	3	2.056757	P23975	SC6A2_HUMAN		3	868	+			B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	1	1	hg19	c.613T>C	CCDS10754.1	1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092195	0.36952	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	4.65	0.58169	5.8	4.65	0.58169	.	0.307757	0.37012	N	0.002281	T	0.60983	0.2311	L	0.31120	0.905	0.51233	D	0.999914	B;B;B	0.15930	0.006;0.015;0.006	B;B;B	0.21546	0.013;0.035;0.013	T	0.55003	-0.8208	10	0.15066	T	0.55	.	11.8823	0.52581	0.1306:0.0:0.0:0.8694	.	205;100;205	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	H	205	ENSP00000394956:Y205H;ENSP00000369237:Y205H;ENSP00000219833:Y205H	ENSP00000219833:Y205H	Y	+	1	0	0	SLC6A2	54263557	54263557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.213000	0.71641	0.528000	0.53228	TAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000				50	48		237	228	1		1			0	0	52	0		1	0	0	0	0	0	0	50	237
CES1	1066	broad.mit.edu	37	16	55844569	55844569	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55844569G>T	ENST00000361503.4	-	11	1305	c.1175C>A	c.(1174-1176)gCt>gAt	p.A392D	CES1_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000422046.2_Missense_Mutation_p.A391D			P23141	EST1_HUMAN	carboxylesterase 1	392					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCTTAGCAATGCACTG	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000361503.4			0	0																														0										c.(1174-1176)gCt>gAt		carboxylesterase 1	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)						127.0	136.0	133.0					16																	55844569		2198	4300	6498	SO:0001583	missense	1066	0	0					g.chr16:55844569G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1175C>A	chr16.hg19:g.55844569G>T	ENSP00000355193:p.Ala392Asp						CES1_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000422046.2_Missense_Mutation_p.A391D	p.A392D							P23141	EST1_HUMAN		11	1305	-			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	0	1	hg19	c.1175C>A	CCDS45488.1		.	.	.	.	.	.	.	.	.	.	.	12.49	1.953664	0.34471	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.08984	3.09;3.09;3.03	4.69	4.69	0.59074	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.644142	0.15298	N	0.269790	T	0.06872	0.0175	N	0.11131	0.1	0.09310	N	1	B;B;B	0.20261	0.021;0.043;0.017	B;B;B	0.30495	0.116;0.116;0.071	T	0.34551	-0.9824	10	0.59425	D	0.04	.	13.1724	0.59606	0.0:0.0:1.0:0.0	.	391;392;393	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	D	393;392;391;257	ENSP00000353720:A393D;ENSP00000355193:A392D;ENSP00000390492:A391D	ENSP00000353720:A393D	A	-	2	0	0	CES1	54402070	54402070	0.507000	0.26146	0.005000	0.12908	0.003000	0.03518	5.319000	0.65835	2.182000	0.69389	0.456000	0.33151	GCT			TCGA-IB-7651-01A-11D-2154-08	0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	0	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-3.060661	1	0.170000	NM_001266			19	19		846	834	0		1	0		0	0	159	0		9.999890e-01	9.350292e-01	0	0	0	207	0	19	846
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507																																						ENST00000262493.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999443	0.990000	1.000000																										1	Substitution - Missense(1)	p.D252N(1)	large_intestine(1)	17						c.(754-756)Gac>Aac		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							154.0	128.0	137.0					16																	56385326		2198	4300	6498	SO:0001583	missense	2775	0	0					g.chr16:56385326G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.754G>A	chr16.hg19:g.56385326G>A	ENSP00000262493:p.Asp252Asn	0					RP11-441F2.5_ENST00000606772.1_RNA	p.D252N	NM_020988.2	NP_066268.1	1	2	3	1.993938	P09471	GNAO_HUMAN		7	1600	+		all_neural(199;0.159)	P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	1	1	hg19	c.754G>A	CCDS10756.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	0	GNAO1	54942827	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-14.513530	1	0.170000	NM_020988			30	29		199	196	1		1	0		0	0	57	0		1	1.381567e-01	0	0	0	5	0	30	199
AMFR	267	broad.mit.edu	37	16	56437031	56437031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						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)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468																																					Pancreas(2;144 323 39528)	ENST00000290649.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e7-1		autocrine motility factor receptor, E3 ubiquitin protein ligase							89.0	74.0	79.0					16																	56437031		2198	4300	6498	SO:0001630	splice_region_variant	267	0	0					g.chr16:56437031C>T	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.841-1G>A	chr16.hg19:g.56437031C>T		0							NM_001144.5	NP_001135.3	1	2	3	1.993938	Q9UKV5	AMFR_HUMAN		7	1051	-			P26442|Q8IZ70	Splice_Site	SNP	ENST00000290649.5	1	1	hg19		CCDS10758.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049295	0.75846	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	AMFR	54994532	54994532	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.770000	0.85390	2.540000	0.85666	0.650000	0.86243	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000		Intron		57	56		295	291	1		1			0	0	59	0		1	0	0	0	0	0	0	57	295
BBS2	583	broad.mit.edu	37	16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	652					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)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368									Bardet-Biedl syndrome																													ENST00000245157.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1954-1956)aGa>aAa		Bardet-Biedl syndrome 2							141.0	134.0	137.0					16																	56519606		2198	4300	6498	SO:0001583	missense	583	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr16:56519606C>T	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.1955G>A	chr16.hg19:g.56519606C>T	ENSP00000245157:p.Arg652Lys	0					BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	p.R652K	NM_031885.3	NP_114091	1	2	3	1.993938	Q9BXC9	BBS2_HUMAN		16	2375	-			Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	1	1	hg19	c.1955G>A	CCDS32451.1	1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647083	0.29246	.	.	ENSG00000125124	ENST00000245157	D	0.90444	-2.67	5.64	3.41	0.39046	5.64	3.41	0.39046	.	0.131453	0.64402	N	0.000003	D	0.82563	0.5064	L	0.33245	0.995	0.34455	D	0.701105	B	0.09022	0.002	B	0.13407	0.009	T	0.75164	-0.3414	10	0.22109	T	0.4	-9.6526	7.1628	0.25672	0.0:0.4023:0.0:0.5977	.	652	Q9BXC9	BBS2_HUMAN	K	652	ENSP00000245157:R652K	ENSP00000245157:R652K	R	-	2	0	0	BBS2	55077107	55077107	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.301000	0.43628	0.433000	0.26313	-0.482000	0.04802	AGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-3.618787	1	0.170000	NM_031885			113	112		412	408	1		1	1		0	0	108	0		1	1	0	32	0	107	0	113	412
BBS2	583	broad.mit.edu	37	16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	114					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)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353									Bardet-Biedl syndrome																													ENST00000245157.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(340-342)agA>agT		Bardet-Biedl syndrome 2							70.0	67.0	68.0					16																	56548368		2198	4300	6498	SO:0001583	missense	583	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr16:56548368T>A	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.342A>T	chr16.hg19:g.56548368T>A	ENSP00000245157:p.Arg114Ser	0					BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	p.R114S	NM_031885.3	NP_114091	1	2	3	1.993938	Q9BXC9	BBS2_HUMAN		2	762	-			Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	1	1	hg19	c.342A>T	CCDS32451.1	1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891511	0.52014	.	.	ENSG00000125124	ENST00000245157	D	0.83075	-1.68	5.4	5.4	0.78164	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.124466	0.64402	D	0.000003	T	0.79879	0.4522	L	0.61218	1.895	0.48830	D	0.999713	B;B	0.34399	0.452;0.452	B;B	0.33620	0.167;0.167	T	0.81013	-0.1125	10	0.87932	D	0	-14.9158	9.8741	0.41194	0.0:0.0764:0.0:0.9236	.	114;114	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	114	ENSP00000245157:R114S	ENSP00000245157:R114S	R	-	3	2	2	BBS2	55105869	55105869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.690000	0.47001	2.050000	0.60909	0.482000	0.46254	AGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_031885			60	57		252	251	1		1	1		0	0	59	0		1	1	0	31	0	91	0	60	252
MT1M	4499	broad.mit.edu	37	16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I	AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	9	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592																																						ENST00000379818.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(25-27)aCt>aTt		metallothionein 1M							65.0	71.0	69.0					16																	56666669		2197	4300	6497	SO:0001583	missense	4499	0	0					g.chr16:56666669C>T	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.26C>T	chr16.hg19:g.56666669C>T	ENSP00000369146:p.Thr9Ile	0					AC026461.1_ENST00000600389.1_5'Flank	p.T9I	NM_176870.2	NP_789846.1	1	2	3	1.993938	Q8N339	MT1M_HUMAN		1	525	+			Q8TDN3	Missense_Mutation	SNP	ENST00000379818.3	1	1	hg19	c.26C>T	CCDS42166.1	1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431737	0.25813	.	.	ENSG00000205364	ENST00000379818	T	0.10288	2.89	2.61	1.48	0.22813	2.61	1.48	0.22813	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.102672	0.38005	U	0.001860	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.34301	0.179	T	0.22208	-1.0223	9	0.87932	D	0	.	5.9454	0.19215	0.3093:0.6907:0.0:0.0	.	9	Q8N339	MT1M_HUMAN	I	9	ENSP00000369146:T9I	ENSP00000369146:T9I	T	+	2	0	0	MT1M	55224170	55224170	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.537000	0.23144	1.466000	0.48025	0.306000	0.20318	ACT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_176870			77	75		483	471	1		1	1		0	0	118	0		1	9.999897e-01	0	12	0	92	0	77	483
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A	rs368113609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*	MT1JP_ENST00000564564.1_RNA|AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622																																						ENST00000379818.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.C34C(2)	lung(1)|endometrium(1)	5						c.(100-102)tgC>tgA		metallothionein 1M							134.0	137.0	136.0					16																	56667670		2198	4300	6498	SO:0001587	stop_gained	4499	0	0					g.chr16:56667670C>A	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.102C>A	chr16.hg19:g.56667670C>A	ENSP00000369146:p.Cys34*	0					MT1JP_ENST00000564564.1_RNA|AC026461.1_ENST00000600389.1_5'Flank	p.C34*	NM_176870.2	NP_789846.1	1	2	3	1.993938	Q8N339	MT1M_HUMAN		3	601	+			Q8TDN3	Nonsense_Mutation	SNP	ENST00000379818.3	0	1	hg19	c.102C>A	CCDS42166.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.037933	0.97226	.	.	ENSG00000205364	ENST00000379818	.	.	.	2.41	2.41	0.29592	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0436	0.42173	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000369146:C34X	C	+	3	2	2	MT1M	55225171	55225171	0.698000	0.27777	0.998000	0.56505	0.557000	0.35523	-0.062000	0.11674	1.338000	0.45544	0.461000	0.40582	TGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	1	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-20.000000	1	0.170000	NM_176870			153	152		853	839	1		1	1		0	0	216	0		1	9.995243e-01	0	5	0	58	0	153	853
MT1H	4496	broad.mit.edu	37	16	56704811	56704811	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617																																						ENST00000332374.4	1.000000	0.630000	1	7.400000e-01	0.870000	0.869667	0.870000	1.000000																										0				5						c.(94-96)agC>agA		metallothionein 1H							122.0	113.0	116.0					16																	56704811		2198	4300	6498	SO:0001630	splice_region_variant	4496	0	0					g.chr16:56704811C>A	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.95-1C>A	chr16.hg19:g.56704811C>A		0					MT1G_ENST00000569500.1_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000568675.1_5'Flank	p.S32R	NM_005951.2	NP_005942.1	1	2	3	1.993938	P80294	MT1H_HUMAN		3	167	+			B2RUY6	Splice_Site	SNP	ENST00000332374.4	1	0	hg19	c.96C>A	CCDS10767.1	1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908037	0.17833	.	.	ENSG00000205358	ENST00000332374	T	0.12984	2.63	2.6	2.6	0.31112	2.6	2.6	0.31112	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.064398	0.64402	U	0.000011	T	0.11750	0.0286	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.08722	-1.0708	9	0.87932	D	0	.	10.313	0.43721	0.0:1.0:0.0:0.0	.	32	P80294	MT1H_HUMAN	R	32	ENSP00000330587:S32R	ENSP00000330587:S32R	S	+	3	2	2	MT1H	55262312	55262312	1.000000	0.71417	0.965000	0.40720	0.142000	0.21351	1.968000	0.40500	1.141000	0.42275	0.313000	0.20887	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-10.010050	1	0.170000	NM_005951	Missense_Mutation		40	39		506	499	0		1	0		0	0	116	0		1	5.833633e-01	0	0	0	26	0	40	506
NUP93	9688	broad.mit.edu	37	16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000308159.5	+	13	1641	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NUP93_ENST00000564887.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	507					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)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537																																					Colon(33;610 796 1305 1705 38917)	ENST00000308159.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1519-1521)gGa>gAa		nucleoporin 93kDa							68.0	60.0	63.0					16																	56867301		2198	4300	6498	SO:0001583	missense	9688	0	0					g.chr16:56867301G>A	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.1520G>A	chr16.hg19:g.56867301G>A	ENSP00000310668:p.Gly507Glu	0					NUP93_ENST00000564887.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E	p.G507E	NM_014669.4	NP_055484.3	1	2	3	1.993938	Q8N1F7	NUP93_HUMAN		13	1641	+			B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	1	1	hg19	c.1520G>A	CCDS10769.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216492	0.58452	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42131	0.98;0.98	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.09228	-1.0684	10	0.27785	T	0.31	-12.0839	19.7096	0.96089	0.0:0.0:1.0:0.0	.	507	Q8N1F7	NUP93_HUMAN	E	507;384	ENSP00000310668:G507E;ENSP00000440235:G384E	ENSP00000310668:G507E	G	+	2	0	0	NUP93	55424802	55424802	1.000000	0.71417	0.982000	0.44146	0.655000	0.38815	7.863000	0.87023	2.652000	0.90054	0.655000	0.94253	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_014669			52	50		199	198	1		1	1		0	0	49	0		1	9.999990e-01	0	29	0	54	0	52	199
SLC12A3	6559	broad.mit.edu	37	16	56906698	56906698	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000563236.1	+	8	1120	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000438926.2_Splice_Site_p.K365N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N|SLC12A3_ENST00000262502.5_Splice_Site_p.K364N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	365					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597																																						ENST00000563236.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1093-1095)aaG>aaT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						68.0	61.0	63.0					16																	56906698		2198	4300	6498	SO:0001630	splice_region_variant	6559	0	0					g.chr16:56906698G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1095+1G>T	chr16.hg19:g.56906698G>T		0					SLC12A3_ENST00000262502.5_Splice_Site_p.K364N|SLC12A3_ENST00000438926.2_Splice_Site_p.K365N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N	p.K365N			1	2	3	1.993938	P55017	S12A3_HUMAN		8	1120	+			A8MSJ2|C9JNN9	Splice_Site	SNP	ENST00000563236.1	1	0	hg19	c.1095G>T	CCDS58464.1	1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902203	0.72754	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.67	4.72	0.59763	5.67	4.72	0.59763	Amino acid permease domain (1);	0.044027	0.85682	D	0.000000	D	0.86243	0.5886	H	0.95816	3.725	0.80722	D	1	B;P;P	0.43412	0.329;0.806;0.769	B;P;P	0.61397	0.279;0.888;0.821	D	0.89721	0.3919	9	0.87932	D	0	.	14.6175	0.68560	0.0702:0.0:0.9297:0.0	.	364;365;365	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	364;365	.	ENSP00000262502:K365N	K	+	3	2	2	SLC12A3	55464199	55464199	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.634000	0.61325	1.395000	0.46643	0.561000	0.74099	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.198577	1	0.170000		Missense_Mutation		57	56		254	249	1		1			0	0	67	0		1	0	0	0	0	0	0	57	254
SLC12A3	6559	broad.mit.edu	37	16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000563236.1	+	21	2447	c.2422G>T	c.(2422-2424)Gac>Tac	p.D808Y	SLC12A3_ENST00000438926.2_Missense_Mutation_p.D817Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	808					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642																																						ENST00000563236.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				50						c.(2422-2424)Gac>Tac		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						73.0	53.0	60.0					16																	56926867		2198	4300	6498	SO:0001583	missense	6559	0	0					g.chr16:56926867G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2422G>T	chr16.hg19:g.56926867G>T	ENSP00000456149:p.Asp808Tyr	0					SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000438926.2_Missense_Mutation_p.D817Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y	p.D808Y			1	2	3	1.993938	P55017	S12A3_HUMAN		21	2447	+			A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	1	1	hg19	c.2422G>T	CCDS58464.1	1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383581	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.09	1.48	0.22813	5.09	1.48	0.22813	.	0.794787	0.11471	N	0.560748	T	0.66187	0.2764	M	0.77313	2.365	0.36043	D	0.840258	P;P;P	0.41673	0.759;0.712;0.512	P;B;B	0.49953	0.627;0.429;0.391	T	0.70590	-0.4830	9	0.62326	D	0.03	.	8.3943	0.32548	0.1684:0.133:0.6986:0.0	.	816;808;817	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	816;817	.	ENSP00000262502:D817Y	D	+	1	0	0	SLC12A3	55484368	55484368	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	3.972000	0.56838	0.529000	0.28599	0.561000	0.74099	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				32	31		147	141	1		1			0	0	35	0		1	0	0	0	0	0	0	32	147
HERPUD1	9709	broad.mit.edu	37	16	56977193	56977193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Silent_p.I230I|HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000300302.5_Silent_p.I388I|RP11-325K4.3_ENST00000565861.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	389					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522			T	ERG	prostate																																	ENST00000439977.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16q12.2-q13	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""				E	E	ERG		prostate		0				11						c.(1165-1167)atC>atT		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							188.0	181.0	183.0					16																	56977193		2198	4300	6498	SO:0001819	synonymous_variant	9709	0	0					g.chr16:56977193C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1167C>T	chr16.hg19:g.56977193C>T		0					RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Silent_p.I364I|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Silent_p.I388I|HERPUD1_ENST00000344114.4_Silent_p.I230I	p.I389I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	1	2	3	1.993938	Q15011	HERP1_HUMAN		8	1364	+			E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	1	1	hg19	c.1167C>T	CCDS10771.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5	0	0	1		2	2	2	0		0	0	238		238	233	1	2.060000	-20.000000	1	0.170000				200	197		921	907	0		1	1		0	0	238	0		1	1	0	167	0	964	0	200	921
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A	rs368370938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000262510.6	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	574					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000262510.6	1.000000	0.750000	1	8.900000e-01	0.990000	0.961386	0.990000	1.000000																										0				75						c.(1720-1722)cGc>cAc		NLR family, CARD domain containing 5		G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	59.0	54.0	56.0		1721	-3.6	0.0	16		56	0,8600		0,0,4300	no	missense	NLRC5	NM_032206.3	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	574/1867	57060576	1,12995	2198	4300	6498	SO:0001583	missense	84166	2	121412	33				g.chr16:57060576G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1721G>A	chr16.hg19:g.57060576G>A	ENSP00000262510:p.Arg574His	0					NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H	p.R574H	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		6	1946	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	1	1	hg19	c.1721G>A	CCDS10773.1	1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098957	0.08681	2.27E-4	0.0	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.36	-3.61	0.04556	5.36	-3.61	0.04556	.	1.014940	0.07930	N	0.977276	T	0.74152	0.3679	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.23316	0.083;0.067;0.012;0.007	B;B;B;B	0.16289	0.01;0.015;0.009;0.006	T	0.58165	-0.7684	10	0.39692	T	0.17	.	5.0745	0.14625	0.4379:0.0:0.3413:0.2208	.	574;574;574;574	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	574;574;574;48;574;81	ENSP00000262510:R574H;ENSP00000308886:R574H;ENSP00000389739:R574H;ENSP00000441727:R574H;ENSP00000441597:R81H	ENSP00000262510:R574H	R	+	2	0	0	NLRC5	55618077	55618077	0.000000	0.05858	0.030000	0.17652	0.031000	0.12232	0.137000	0.15995	-0.473000	0.06871	-0.310000	0.09108	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1		2	2	2	0		0	0	91		91	88	1	2.060000	-3.075755	1	0.170000	NM_032206			39	39		405	391	1		1	1		0	0	91	0		1	9.779261e-01	0	9	0	56	0	39	405
NLRC5	84166	broad.mit.edu	37	16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000262510.6	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	859					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGATGCGGAGGCCCTC	0.622																																						ENST00000262510.6	1.000000	0.890000	1	9.900000e-01	0.990000	0.994079	0.990000	1.000000																										0				75						c.(2575-2577)gCg>gTg		NLR family, CARD domain containing 5							55.0	45.0	49.0					16																	57068112		2198	4300	6498	SO:0001583	missense	84166	3	121412	32				g.chr16:57068112C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2576C>T	chr16.hg19:g.57068112C>T	ENSP00000262510:p.Ala859Val	0					NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V	p.A859V	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		13	2801	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	1	1	hg19	c.2576C>T	CCDS10773.1	1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918783	0.33908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.82	0.146	0.14833	4.82	0.146	0.14833	.	1.318100	0.05844	N	0.619853	T	0.25044	0.0608	N	0.05124	-0.11	0.09310	N	1	P;P;B;B	0.37061	0.58;0.542;0.375;0.051	B;B;B;B	0.33890	0.144;0.172;0.089;0.014	T	0.07673	-1.0760	10	0.06365	T	0.9	.	7.0124	0.24869	0.0:0.4574:0.0:0.5426	.	859;859;859;859	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	859;859;859;333;859;366;158	ENSP00000262510:A859V;ENSP00000308886:A859V;ENSP00000389739:A859V;ENSP00000441727:A859V;ENSP00000441597:A366V;ENSP00000440153:A158V	ENSP00000262510:A859V	A	+	2	0	0	NLRC5	55625613	55625613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.010000	0.03656	-0.157000	0.11059	-1.244000	0.01528	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_032206			18	18		130	128	1		1	1		0	0	38	0		9.999861e-01	9.927264e-01	0	13	0	48	0	18	130
NLRC5	84166	broad.mit.edu	37	16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000262510.6	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1052					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGTTGGGTTTGGTTCGGTGC	0.602																																						ENST00000262510.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(3154-3156)tTg>tCg		NLR family, CARD domain containing 5							437.0	319.0	359.0					16																	57077468		2198	4300	6498	SO:0001583	missense	84166	0	0					g.chr16:57077468T>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3155T>C	chr16.hg19:g.57077468T>C	ENSP00000262510:p.Leu1052Ser	0					NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S	p.L1052S	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		20	3380	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	1	1	hg19	c.3155T>C	CCDS10773.1	1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867533	0.51588	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.000000	0.27469	N	0.019238	D	0.83087	0.5178	M	0.83118	2.625	0.09310	N	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	0.74595	-0.3613	10	0.87932	D	0	.	10.0221	0.42048	0.0:0.0:0.0:1.0	.	1052;1052;1052;1052	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	S	1052;1052;1052;526;1052;559;351	ENSP00000262510:L1052S;ENSP00000308886:L1052S;ENSP00000389739:L1052S;ENSP00000441727:L1052S;ENSP00000441597:L559S;ENSP00000440153:L351S	ENSP00000262510:L1052S	L	+	2	0	0	NLRC5	55634969	55634969	0.106000	0.21978	0.093000	0.20910	0.004000	0.04260	1.686000	0.37669	1.941000	0.56285	0.460000	0.39030	TTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1		2	2	2	0		0	0	244		244	240	1	2.060000	-20.000000	1	0.170000	NM_032206			278	273		1180	1151	1		1	1		0	0	244	0		1	9.999998e-01	0	22	0	67	0	278	1180
NLRC5	84166	broad.mit.edu	37	16	57091998	57091998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000262510.6	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000436936.1_Silent_p.G1256G|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000539144.1_Silent_p.G1227G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1256					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGCTGGGCGACAGCGGAC	0.577																																						ENST00000262510.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				75						c.(3766-3768)ggC>ggT		NLR family, CARD domain containing 5							57.0	47.0	50.0					16																	57091998		2198	4300	6498	SO:0001819	synonymous_variant	84166	3	121406	35				g.chr16:57091998C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3768C>T	chr16.hg19:g.57091998C>T		0					NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000436936.1_Silent_p.G1256G|RP11-322D14.2_ENST00000562970.1_RNA	p.G1256G	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		28	3993	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	1	1	hg19	c.3768C>T	CCDS10773.1	1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908825	0.02434	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.68	-1.89	0.07689	4.68	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464	0.01366	0.1515:0.2682:0.1567:0.4237	.	.	.	.	X	1008;8	.	.	R	+	1	2	2	NLRC5	55649499	55649499	0.995000	0.38212	0.443000	0.26883	0.005000	0.04900	-0.097000	0.11042	-0.621000	0.05633	-1.490000	0.00973	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_032206			17	17		63	61	1		1	1		0	0	44	0		9.999794e-01	9.999956e-01	0	28	0	64	0	17	63
NLRC5	84166	broad.mit.edu	37	16	57111861	57111861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000539144.1_Silent_p.G1641G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1670					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCTTGGCTGCAATGCCC	0.672																																						ENST00000262510.6	1.000000	0.180000	5.700000e-01	2.700000e-01	0.400000	0.438767	0.400000	0.370000																										0				75						c.(5008-5010)ggC>ggT		NLR family, CARD domain containing 5							46.0	43.0	44.0					16																	57111861		2198	4300	6498	SO:0001819	synonymous_variant	84166	0	0					g.chr16:57111861C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5010C>T	chr16.hg19:g.57111861C>T		0					NLRC5_ENST00000539144.1_Silent_p.G1641G|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000436936.1_3'UTR	p.G1670G	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		43	5235	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	1	1	hg19	c.5010C>T	CCDS10773.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	0	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-9.429105	1	0.170000	NM_032206			8	8		244	243	0		1	1		0	0	47	0		9.895223e-01	8.469470e-01	0	6	0	100	0	8	244
NLRC5	84166	broad.mit.edu	37	16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGACATGGCCCAGCACCT	0.567																																						ENST00000262510.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(5521-5523)Gcc>Acc		NLR family, CARD domain containing 5							105.0	94.0	98.0					16																	57116360		2198	4300	6498	SO:0001583	missense	84166	0	0					g.chr16:57116360G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5521G>A	chr16.hg19:g.57116360G>A	ENSP00000262510:p.Ala1841Thr	0					NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000436936.1_3'UTR	p.A1841T	NM_032206.4	NP_115582.4	1	2	3	1.993938	Q86WI3	NLRC5_HUMAN		49	5746	+		all_neural(199;0.225)	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	1	1	hg19	c.5521G>A	CCDS10773.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039218	0.75617	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54479	0.57;0.57;0.57	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.898467	0.09038	N	0.857661	T	0.67202	0.2868	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.66192	-0.5985	10	0.56958	D	0.05	.	13.013	0.58741	0.0:0.0:1.0:0.0	.	1841	Q86WI3	NLRC5_HUMAN	T	1841;1812;1812	ENSP00000262510:A1841T;ENSP00000308886:A1812T;ENSP00000441727:A1812T	ENSP00000262510:A1841T	A	+	1	0	0	NLRC5	55673861	55673861	0.999000	0.42202	0.665000	0.29768	0.006000	0.05464	4.344000	0.59354	2.203000	0.70933	0.563000	0.77884	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_032206			82	81		445	438	1		1	1		0	0	123	0		1	9.999990e-01	0	27	0	81	0	82	445
CPNE2	221184	broad.mit.edu	37	16	57149461	57149461	+	Splice_Site	SNP	C	C	T	rs376741496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000565874.1_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M|CPNE2_ENST00000290776.8_Splice_Site_p.T145M			Q96FN4	CPNE2_HUMAN	copine II	145	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607																																						ENST00000535318.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(433-435)aCg>aTg		copine II		C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	77.0	68.0	71.0		434	3.8	1.0	16		71	0,8600		0,0,4300	no	missense-near-splice	CPNE2	NM_152727.5	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	145/549	57149461	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	221184	6	121412	38				g.chr16:57149461C>T		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.435+1C>T	chr16.hg19:g.57149461C>T		0					CPNE2_ENST00000290776.8_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M	p.T145M			1	2	3	1.993938	Q96FN4	CPNE2_HUMAN		5	795	+		all_neural(199;0.224)	Q68D19|Q719H8|Q86XP9	Splice_Site	SNP	ENST00000535318.2	1	0	hg19	c.434C>T	CCDS10774.1	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527307	0.44969	4.55E-4	0.0	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09255	3.43;3.0;3.43	4.73	3.78	0.43462	4.73	3.78	0.43462	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.83852	2.665	0.54753	D	0.999988	D;P	0.69078	0.997;0.668	P;B	0.50231	0.635;0.207	T	0.11108	-1.0601	10	0.66056	D	0.02	-10.54	13.0984	0.59206	0.0:0.9224:0.0:0.0776	.	145;145	A8K8A4;Q96FN4	.;CPNE2_HUMAN	M	145;43;145	ENSP00000290776:T145M;ENSP00000445468:T43M;ENSP00000439018:T145M	ENSP00000290776:T145M	T	+	2	0	0	CPNE2	55706962	55706962	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.616000	0.54174	1.015000	0.39444	-0.119000	0.15052	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_152727	Missense_Mutation		59	58		231	221	0		1	1		0	0	46	0		1	9.999964e-01	0	2	0	74	0	59	231
FAM192A	80011	broad.mit.edu	37	16	57188214	57188214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000309137.8	-	7	1011	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	251						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547																																						ENST00000309137.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				11						c.(751-753)ctC>ctT		family with sequence similarity 192, member A							55.0	66.0	62.0					16																	57188214		1967	4143	6110	SO:0001819	synonymous_variant	80011	1	120896	33				g.chr16:57188214G>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.753C>T	chr16.hg19:g.57188214G>A		0					FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L	p.L251L	NM_024946.2	NP_079222.1	1	2	3	1.993938	Q9GZU8	F192A_HUMAN		7	1011	-				Silent	SNP	ENST00000309137.8	1	1	hg19	c.753C>T	CCDS42168.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.244450	1	0.170000	NM_024946			29	28		162	156	1		1	1		0	0	34	0		1	1	0	86	0	265	0	29	162
RSPRY1	89970	broad.mit.edu	37	16	57272872	57272872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	ENST00000537866.1	+	15	2589	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	572						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCAGACAGATTTCTCATATTT	0.393																																						ENST00000537866.1	1.000000	0.260000	7.100000e-01	3.700000e-01	0.510000	0.544767	0.510000	0.480000																										0				27						c.(1714-1716)atT>atG		ring finger and SPRY domain containing 1							93.0	81.0	85.0					16																	57272872		2198	4300	6498	SO:0001583	missense	89970	0	0					g.chr16:57272872T>G	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.1716T>G	chr16.hg19:g.57272872T>G	ENSP00000443176:p.Ile572Met	0					RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M	p.I572M			1	2	3	1.993938	Q96DX4	RSPRY_HUMAN		15	2589	+			Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	1	1	hg19	c.1716T>G	CCDS10775.1	0	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572026	0.45798	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86366	-2.11;-2.11	5.73	0.987	0.19790	5.73	0.987	0.19790	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.67397	2.05	0.49051	D	0.999746	D	0.56521	0.976	P	0.50659	0.647	T	0.81957	-0.0695	10	0.52906	T	0.07	.	5.7173	0.17968	0.1194:0.3027:0.0:0.5779	.	572	Q96DX4	RSPRY_HUMAN	M	572	ENSP00000377942:I572M;ENSP00000443176:I572M	ENSP00000377942:I572M	I	+	3	3	3	RSPRY1	55830373	55830373	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.341000	0.19909	0.105000	0.17753	0.533000	0.62120	ATT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-12.262420	1	0.170000	NM_133368			10	10		232	231	0		1	1		0	0	54	0		9.969926e-01	8.957539e-01	0	5	0	90	0	10	232
CX3CL1	6376	broad.mit.edu	37	16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000006053.6	+	3	1136	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	342					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)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657																																						ENST00000006053.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1024-1026)gCg>gTg		chemokine (C-X3-C motif) ligand 1							41.0	43.0	42.0					16																	57416775		2198	4300	6498	SO:0001583	missense	6376	8	121252	41				g.chr16:57416775C>T	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.1025C>T	chr16.hg19:g.57416775C>T	ENSP00000006053:p.Ala342Val	0					CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V	p.A342V	NM_002996.3	NP_002987.1	1	2	3	1.993938	P78423	X3CL1_HUMAN		3	1136	+			O00672	Missense_Mutation	SNP	ENST00000006053.6	1	1	hg19	c.1025C>T	CCDS10779.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269945	0.80469	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.607960	0.13882	N	0.356231	T	0.28995	0.0720	L	0.36672	1.1	0.41076	D	0.985482	D	0.89917	1.0	D	0.81914	0.995	T	0.01401	-1.1364	10	0.87932	D	0	-27.547	14.2662	0.66121	0.0:1.0:0.0:0.0	.	342	P78423	X3CL1_HUMAN	V	342	ENSP00000006053:A342V	ENSP00000006053:A342V	A	+	2	0	0	CX3CL1	55974276	55974276	0.987000	0.35691	0.982000	0.44146	0.728000	0.41692	3.446000	0.52928	2.412000	0.81896	0.558000	0.71614	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_002996			73	72		333	330	1		1	1		0	0	62	0		1	1	0	6	0	108	0	73	333
CIAPIN1	57019	broad.mit.edu	37	16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A	rs575853934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000569979.1	-	6	768	c.722G>T	c.(721-723)aGc>aTc	p.S241I	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATGAAGATTGCTATCACTCAG	0.582																																						ENST00000569979.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(721-723)aGc>aTc		cytokine induced apoptosis inhibitor 1							74.0	74.0	74.0					16																	57463101		2019	4166	6185	SO:0001583	missense	57019	0	0					g.chr16:57463101C>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.722G>T	chr16.hg19:g.57463101C>A	ENSP00000458000:p.Ser241Ile	0					CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I	p.S241I			1	2	3	1.993938				6	768	-				Missense_Mutation	SNP	ENST00000569979.1	1	1	hg19	c.722G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818791	0.50633	.	.	ENSG00000005194	ENST00000394391	T	0.32272	1.46	4.73	-0.119	0.13543	4.73	-0.119	0.13543	.	0.716513	0.14083	N	0.342575	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	1	P;B	0.37636	0.603;0.201	B;B	0.42422	0.387;0.063	T	0.17992	-1.0351	10	0.59425	D	0.04	-2.4236	4.2962	0.10902	0.0:0.3044:0.1827:0.5129	.	294;307	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	I	307	ENSP00000377914:S307I	ENSP00000377914:S307I	S	-	2	0	0	CIAPIN1	56020602	56020602	0.002000	0.14202	0.009000	0.14445	0.753000	0.42808	0.020000	0.13466	0.174000	0.19809	0.561000	0.74099	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_020313			39	39		171	168	1		1	1		0	0	42	0		1	1	0	68	0	161	0	39	171
COQ9	57017	broad.mit.edu	37	16	57490417	57490417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Splice_Site_p.S127F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	127					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512																																						ENST00000262507.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(379-381)tCt>tTt		coenzyme Q9							119.0	107.0	111.0					16																	57490417		2198	4300	6498	SO:0001630	splice_region_variant	57017	0	0					g.chr16:57490417C>T	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.379-1C>T	chr16.hg19:g.57490417C>T		0					COQ9_ENST00000567072.1_Splice_Site_p.S127F|COQ9_ENST00000567933.1_Intron	p.S127F	NM_020312.3	NP_064708.1	1	2	3	1.993938	O75208	COQ9_HUMAN		4	449	+			A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Splice_Site	SNP	ENST00000262507.6	1	0	hg19	c.380C>T	CCDS32459.1	1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578520	0.65878	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.148137	0.64402	D	0.000008	D	0.82898	0.5137	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.977	D;D;P;P	0.71656	0.974;0.943;0.885;0.723	D	0.84756	0.0759	9	0.72032	D	0.01	-9.4722	18.5507	0.91063	0.0:1.0:0.0:0.0	.	127;127;127;127	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	F	127	.	ENSP00000262507:S127F	S	+	2	0	0	COQ9	56047918	56047918	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.403000	0.66338	2.620000	0.88729	0.563000	0.77884	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	1	0	0		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_020312	Missense_Mutation		87	85		374	365	1		1	1		0	0	102	0		1	1	0	87	0	160	0	87	374
DOK4	55715	broad.mit.edu	37	16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000340099.4	-	9	1282	c.911A>C	c.(910-912)aAc>aCc	p.N304T	DOK4_ENST00000566936.1_Missense_Mutation_p.N343T|DOK4_ENST00000569548.1_Missense_Mutation_p.N304T|DOK4_ENST00000561918.1_5'Flank	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	304					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597																																						ENST00000340099.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(910-912)aAc>aCc		docking protein 4							119.0	97.0	105.0					16																	57507359		2198	4300	6498	SO:0001583	missense	55715	0	0					g.chr16:57507359T>G	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.911A>C	chr16.hg19:g.57507359T>G	ENSP00000344277:p.Asn304Thr	0					DOK4_ENST00000566936.1_Missense_Mutation_p.N343T|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Missense_Mutation_p.N304T	p.N304T	NM_018110.3	NP_060580.2	1	2	3	1.993938	Q8TEW6	DOK4_HUMAN		9	1282	-			O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	1	1	hg19	c.911A>C	CCDS10783.1	1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473549	0.43942	.	.	ENSG00000125170	ENST00000340099	D	0.91894	-2.93	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.743799	0.13215	N	0.404870	D	0.86826	0.6026	N	0.22421	0.69	0.38814	D	0.95547	B	0.16166	0.016	B	0.13407	0.009	T	0.82659	-0.0348	10	0.48119	T	0.1	-22.6822	13.1758	0.59626	0.0:0.0:0.0:1.0	.	304	Q8TEW6	DOK4_HUMAN	T	304	ENSP00000344277:N304T	ENSP00000344277:N304T	N	-	2	0	0	DOK4	56064860	56064860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.356000	0.52269	2.048000	0.60808	0.533000	0.62120	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				43	43		184	181	1		1	1		0	0	37	0		1	1	0	158	0	233	0	43	184
DOK4	55715	broad.mit.edu	37	16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000340099.4	-	4	556	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000566936.1_Missense_Mutation_p.I62S|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	62	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577																																						ENST00000340099.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				6						c.(184-186)aTc>aGc		docking protein 4							70.0	57.0	61.0					16																	57509522		2198	4300	6498	SO:0001583	missense	55715	0	0					g.chr16:57509522A>C	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.185T>G	chr16.hg19:g.57509522A>C	ENSP00000344277:p.Ile62Ser	0					DOK4_ENST00000566936.1_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S	p.I62S	NM_018110.3	NP_060580.2	1	2	3	1.993938	Q8TEW6	DOK4_HUMAN		4	556	-			O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	1	1	hg19	c.185T>G	CCDS10783.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726227	0.89298	.	.	ENSG00000125170	ENST00000340099	T	0.73047	-0.71	5.53	5.53	0.82687	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	D;P	0.62955	0.909;0.869	T	0.80151	-0.1502	10	0.59425	D	0.04	-0.1115	14.4951	0.67680	1.0:0.0:0.0:0.0	.	62;62	Q8TEW6;B2RD67	DOK4_HUMAN;.	S	62	ENSP00000344277:I62S	ENSP00000344277:I62S	I	-	2	0	0	DOK4	56067023	56067023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.103000	0.63969	0.528000	0.53228	ATC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000				17	17		59	58	1		1	1		0	0	12	0		9.999824e-01	1	0	117	0	209	0	17	59
CCDC102A	92922	broad.mit.edu	37	16	57550216	57550216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57550216C>T	ENST00000258214.2	-	7	1654	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	470										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCGTCCTCAGCCTGGGCCAGC	0.667																																						ENST00000258214.2	1.000000	0.170000	5.800000e-01	2.700000e-01	0.390000	0.439122	0.390000	0.370000																										0				8						c.(1408-1410)Gct>Act		coiled-coil domain containing 102A							63.0	49.0	54.0					16																	57550216		2198	4300	6498	SO:0001583	missense	92922	0	0					g.chr16:57550216C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1408G>A	chr16.hg19:g.57550216C>T	ENSP00000258214:p.Ala470Thr	0						p.A470T	NM_033212.3	NP_149989.2	1	2	3	1.993938	Q96A19	C102A_HUMAN		7	1654	-			Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	0	1	hg19	c.1408G>A	CCDS10784.1	0	.	.	.	.	.	.	.	.	.	.	c	22.8	4.337255	0.81911	.	.	ENSG00000135736	ENST00000258214	T	0.78816	-1.21	3.97	3.0	0.34707	3.97	3.0	0.34707	.	0.060265	0.64402	U	0.000003	T	0.80127	0.4566	M	0.68317	2.08	0.58432	D	0.999997	P	0.46327	0.876	P	0.50192	0.634	T	0.79909	-0.1604	10	0.49607	T	0.09	-7.7109	11.9481	0.52940	0.1752:0.8247:0.0:0.0	.	470	Q96A19	C102A_HUMAN	T	470	ENSP00000258214:A470T	ENSP00000258214:A470T	A	-	1	0	0	CCDC102A	56107717	56107717	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.586000	0.67503	0.863000	0.35553	0.466000	0.42574	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	0	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-8.568056	1	0.170000	NM_033212			7	7		216	209	0		1	1		0	0	31	0		9.788054e-01	5.119546e-01	0	2	0	48	0	7	216
GPR56	9289	broad.mit.edu	37	16	57689823	57689823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000388812.4	+	7	1376	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000562631.1_Silent_p.V312V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	312					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)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562																																						ENST00000388812.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(934-936)gtC>gtT		G protein-coupled receptor 56							130.0	125.0	126.0					16																	57689823		2198	4300	6498	SO:0001819	synonymous_variant	9289	1	121412	36				g.chr16:57689823C>T	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.936C>T	chr16.hg19:g.57689823C>T		0					GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000562631.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000568909.1_Silent_p.V312V	p.V312V			1	2	3	1.993938	Q9Y653	GPR56_HUMAN		7	1376	+			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	1	1	hg19	c.936C>T	CCDS32460.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3	1	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-20.000000	1	0.170000				144	139		682	673	1		1	1		0	0	172	0		1	1	0	77	0	163	0	144	682
GPR56	9289	broad.mit.edu	37	16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000388812.4	+	11	1845	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000562631.1_Missense_Mutation_p.T463A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	469					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)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622																																						ENST00000388812.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1405-1407)Aca>Gca		G protein-coupled receptor 56							70.0	58.0	62.0					16																	57693425		2198	4300	6498	SO:0001583	missense	9289	0	0					g.chr16:57693425A>G	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.1405A>G	chr16.hg19:g.57693425A>G	ENSP00000373464:p.Thr469Ala	0					GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000562631.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A	p.T469A			1	2	3	1.993938	Q9Y653	GPR56_HUMAN		11	1845	+			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	1	1	hg19	c.1405A>G	CCDS32460.1	1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003116	0.07773	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	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	4.9	-3.91	0.04168	4.9	-3.91	0.04168	GPCR, family 2-like (1);	1.372880	0.04900	N	0.451228	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.003;0.003	T	0.10359	-1.0633	10	0.27785	T	0.31	.	0.6742	0.00864	0.4539:0.1509:0.1772:0.218	.	288;468;463;469;299	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	A	463;469;463;469;463;288;299;469	ENSP00000373465:T463A;ENSP00000373464:T469A;ENSP00000444415:T463A;ENSP00000398034:T469A;ENSP00000444911:T463A;ENSP00000438006:T288A;ENSP00000369016:T299A;ENSP00000369018:T469A	ENSP00000369016:T299A	T	+	1	0	0	GPR56	56250926	56250926	0.000000	0.05858	0.015000	0.15790	0.489000	0.33432	-1.526000	0.02229	-0.598000	0.05806	0.482000	0.46254	ACA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3	1	0	1		2	2	2	0		0	0	70		70	61	1	2.060000	-20.000000	1	0.170000				87	82		374	338	1		1	1		0	0	70	0		1	1	0	37	0	109	0	87	374
DRC7	84229	broad.mit.edu	37	16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M|CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		56					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597																																						ENST00000360716.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(166-168)Ctg>Atg									100.0	92.0	95.0					16																	57732027		2198	4300	6498	SO:0001583	missense	0	0	0					g.chr16:57732027C>A																												ENST00000360716.3:c.166C>A	chr16.hg19:g.57732027C>A	ENSP00000353942:p.Leu56Met	0					CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M|CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA	p.L56M			1	2	3	1.993938	Q8IY82	CC135_HUMAN		3	387	+			A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	0	1	hg19	c.166C>A	CCDS10787.1	1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368654	0.24771	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20069	2.38;2.1;2.38	4.18	-1.39	0.08997	4.18	-1.39	0.08997	.	0.136039	0.33553	N	0.004795	T	0.39462	0.1079	M	0.79693	2.465	0.32066	N	0.595015	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.43458	-0.9390	10	0.72032	D	0.01	-8.9274	6.0355	0.19706	0.0:0.3466:0.4672:0.1862	.	56;56	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	56	ENSP00000377869:L56M;ENSP00000338938:L56M;ENSP00000353942:L56M	ENSP00000338938:L56M	L	+	1	2	2	CCDC135	56289528	56289528	0.894000	0.30519	0.393000	0.26258	0.022000	0.10575	-0.012000	0.12699	-0.191000	0.10448	-0.326000	0.08463	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				46	46		229	223	1		1			0	0	54	0		1	0	0	0	0	0	0	46	229
DRC7	84229	broad.mit.edu	37	16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T	rs373693140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V|CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V			Q8IY82	CC135_HUMAN		769					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		16251	0.001		0.0	False		,,,				2504	0.0					ENST00000360716.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2305-2307)gCg>gTg				C	VAL/ALA	1,4391	2.1+/-5.4	0,1,2195	45.0	47.0	46.0		2306	4.2	0.9	16		46	0,8594		0,0,4297	no	missense	CCDC135	NM_032269.5	64	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	769/875	57762411	1,12985	2196	4297	6493	SO:0001583	missense	0	22	121222	44				g.chr16:57762411C>T																												ENST00000360716.3:c.2306C>T	chr16.hg19:g.57762411C>T	ENSP00000353942:p.Ala769Val	0					CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V|CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V	p.A769V			1	2	3	1.993938	Q8IY82	CC135_HUMAN		17	2527	+			A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	1	1	hg19	c.2306C>T	CCDS10787.1	1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540465	0.65085	2.28E-4	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.53857	0.6;0.6;0.6	5.15	4.19	0.49359	5.15	4.19	0.49359	.	0.119998	0.56097	D	0.000040	T	0.54208	0.1844	L	0.58969	1.84	0.50171	D	0.99985	P;D	0.71674	0.883;0.998	B;P	0.49192	0.146;0.602	T	0.55842	-0.8077	10	0.42905	T	0.14	-27.7712	11.8083	0.52169	0.0:0.9138:0.0:0.0862	.	704;769	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	769;704;769	ENSP00000377869:A769V;ENSP00000338938:A704V;ENSP00000353942:A769V	ENSP00000338938:A704V	A	+	2	0	0	CCDC135	56319912	56319912	0.998000	0.40836	0.943000	0.38184	0.601000	0.36947	4.120000	0.57897	2.399000	0.81585	0.491000	0.48974	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000				59	58		274	267	0		1	0		0	0	72	0		1	0	0	0	0	1	0	59	274
KIFC3	3801	broad.mit.edu	37	16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A	rs374127529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000379655.4	-	19	2742	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000445690.2_3'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	829					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)			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)				GGCAGTGGCCGCGACTTCCCT	0.662																																						ENST00000379655.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				23						c.(2485-2487)Cgg>Tgg		kinesin family member C3		G	,,TRP/ARG	0,4396		0,0,2198	75.0	57.0	63.0		,,2485	2.1	0.5	16		63	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,utr-3,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	,,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging	,,829/834	57792813	1,12993	2198	4299	6497	SO:0001583	missense	3801	3	121222	37				g.chr16:57792813G>A	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.2485C>T	chr16.hg19:g.57792813G>A	ENSP00000368976:p.Arg829Trp	0					KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000421376.2_3'UTR	p.R829W	NM_005550.3	NP_005541.3	1	2	3	1.993938	Q9BVG8	KIFC3_HUMAN		19	2742	-		all_neural(199;0.224)	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	0	1	hg19	c.2485C>T	CCDS10789.2	1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685838	0.29962	0.0	1.16E-4	ENSG00000140859	ENST00000379655	T	0.75704	-0.96	3.22	2.09	0.27110	3.22	2.09	0.27110	.	0.214284	0.29246	U	0.012717	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.45377	0.478	T	0.58103	-0.7695	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0:0.216:0.784	.	829	Q9BVG8	KIFC3_HUMAN	W	829	ENSP00000368976:R829W	ENSP00000368976:R829W	R	-	1	2	2	KIFC3	56350314	56350314	0.889000	0.30405	0.494000	0.27515	0.090000	0.18270	1.244000	0.32778	0.624000	0.30286	-0.749000	0.03505	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	0	0	1		19	11	2	1		1	1	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_005550			43	43		241	239	1		1	1		1	0	48	0		9.996102e-01	9.914003e-01	0	19	0	123	0	43	241
KIFC3	3801	broad.mit.edu	37	16	57794323	57794323	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000379655.4	-	17	2495	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000445690.2_Silent_p.S746S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	746	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)				TCTCCACGGGGGACACCTAGG	0.642																																						ENST00000379655.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				23						c.(2236-2238)tcC>tcA		kinesin family member C3							64.0	64.0	64.0					16																	57794323		2198	4300	6498	SO:0001819	synonymous_variant	3801	0	0					g.chr16:57794323G>T	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.2238C>A	chr16.hg19:g.57794323G>T		0					KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000421376.2_Silent_p.S607S	p.S746S	NM_005550.3	NP_005541.3	1	2	3	1.993938	Q9BVG8	KIFC3_HUMAN		17	2495	-		all_neural(199;0.224)	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	1	1	hg19	c.2238C>A	CCDS10789.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.223198	1	0.170000	NM_005550			56	55		330	324	1		1	1		0	0	72	0		1	1	0	31	0	128	0	56	330
KIFC3	3801	broad.mit.edu	37	16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000379655.4	-	12	1834	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	526	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)				CTGGCCGTACGCAAAGATGCA	0.637																																						ENST00000379655.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				23						c.(1576-1578)gCg>gTg		kinesin family member C3							69.0	59.0	63.0					16																	57798095		2198	4300	6498	SO:0001583	missense	3801	0	0					g.chr16:57798095G>A	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.1577C>T	chr16.hg19:g.57798095G>A	ENSP00000368976:p.Ala526Val	0					KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V	p.A526V	NM_005550.3	NP_005541.3	1	2	3	1.993938	Q9BVG8	KIFC3_HUMAN		12	1834	-		all_neural(199;0.224)	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	1	1	hg19	c.1577C>T	CCDS10789.2	1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.475183	0.84640	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.02	5.02	0.67125	5.02	5.02	0.67125	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83953	2.67	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	0.75020	0.971;0.951;0.98;0.975;0.985;0.971;0.959	T	0.79773	-0.1662	10	0.87932	D	0	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	548;468;384;424;231;526;387	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	V	526;526;387;548;424;384;468	ENSP00000368976:A526V;ENSP00000401696:A526V;ENSP00000396399:A387V;ENSP00000442008:A548V;ENSP00000438805:A424V;ENSP00000444012:A384V;ENSP00000444884:A468V	ENSP00000368976:A526V	A	-	2	0	0	KIFC3	56355596	56355596	1.000000	0.71417	0.908000	0.35775	0.289000	0.27227	9.820000	0.99359	2.345000	0.79718	0.552000	0.68991	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.226014	1	0.170000	NM_005550			42	42		247	243	1		1	1		0	0	65	0		1	1	0	40	0	129	0	42	247
KIFC3	3801	broad.mit.edu	37	16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000379655.4	-	9	1459	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	401					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)			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)				CTTGACACTCCTGAGGGCCTC	0.657																																						ENST00000379655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1201-1203)aGg>aTg		kinesin family member C3							37.0	39.0	39.0					16																	57803523		2198	4300	6498	SO:0001583	missense	3801	0	0					g.chr16:57803523C>A	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.1202G>T	chr16.hg19:g.57803523C>A	ENSP00000368976:p.Arg401Met	0					KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M	p.R401M	NM_005550.3	NP_005541.3	1	2	3	1.993938	Q9BVG8	KIFC3_HUMAN		9	1459	-		all_neural(199;0.224)	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	1	1	hg19	c.1202G>T	CCDS10789.2	1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006246	0.35415	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75477	-0.86;-0.86;-0.86;-0.87;-0.85;-0.94;-0.87	5.86	-3.14	0.05250	5.86	-3.14	0.05250	.	0.730840	0.14053	N	0.344569	T	0.67401	0.2889	L	0.39898	1.24	0.09310	N	1	P;P;B;B;B;P;B	0.39181	0.533;0.663;0.24;0.238;0.153;0.533;0.102	B;B;B;B;B;B;B	0.43251	0.155;0.413;0.155;0.357;0.111;0.155;0.078	T	0.63708	-0.6576	10	0.54805	T	0.06	.	13.8935	0.63755	0.0:0.5905:0.0:0.4095	.	423;343;262;299;106;401;262	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	M	401;401;262;423;299;262;343	ENSP00000368976:R401M;ENSP00000401696:R401M;ENSP00000396399:R262M;ENSP00000442008:R423M;ENSP00000438805:R299M;ENSP00000444012:R262M;ENSP00000444884:R343M	ENSP00000368976:R401M	R	-	2	0	0	KIFC3	56361024	56361024	0.001000	0.12720	0.014000	0.15608	0.233000	0.25261	-0.416000	0.07097	-0.452000	0.07087	0.655000	0.94253	AGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.261291	1	0.170000	NM_005550			53	52		238	235	1		1	1		0	0	41	0		1	1	0	28	0	99	0	53	238
CNGB1	1258	broad.mit.edu	37	16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000251102.8	-	33	3538	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1154Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1160					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000251102.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3478-3480)Gac>Tac		cyclic nucleotide gated channel beta 1							25.0	26.0	26.0					16																	57918346		2000	4180	6180	SO:0001583	missense	1258	0	0					g.chr16:57918346C>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3478G>T	chr16.hg19:g.57918346C>A	ENSP00000251102:p.Asp1160Tyr	0					CNGB1_ENST00000564448.1_Missense_Mutation_p.D1154Y	p.D1160Y	NM_001297.4	NP_001288.3	1	2	3	1.993938	Q14028	CNGB1_HUMAN		33	3538	-			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	1	1	hg19	c.3478G>T	CCDS42169.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302802	0.23736	.	.	ENSG00000070729	ENST00000251102	D	0.96685	-4.09	3.93	2.98	0.34508	3.93	2.98	0.34508	.	0.806464	0.11325	N	0.575614	D	0.95414	0.8511	L	0.44542	1.39	0.20703	N	0.999867	D;P	0.54207	0.965;0.94	P;P	0.54312	0.748;0.564	D	0.88986	0.3411	10	0.72032	D	0.01	.	7.4308	0.27126	0.0:0.8823:0.0:0.1177	.	532;1160	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1160	ENSP00000251102:D1160Y	ENSP00000251102:D1160Y	D	-	1	0	0	CNGB1	56475847	56475847	0.004000	0.15560	0.007000	0.13788	0.134000	0.20937	1.662000	0.37418	1.233000	0.43693	0.655000	0.94253	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001297			52	52		245	244	1		1	0		0	0	49	0		1	0	0	0	0	1	0	52	245
CNGB1	1258	broad.mit.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000251102.8	-	18	1700	c.1640C>A	c.(1639-1641)aCt>aAt	p.T547N	CNGB1_ENST00000564448.1_Missense_Mutation_p.T541N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000251102.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999794	0.990000	1.000000																										0				54						c.(1639-1641)aCt>aAt		cyclic nucleotide gated channel beta 1							49.0	51.0	50.0					16																	57957180		1885	4109	5994	SO:0001583	missense	1258	0	0					g.chr16:57957180G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1640C>A	chr16.hg19:g.57957180G>T	ENSP00000251102:p.Thr547Asn	0					CNGB1_ENST00000564448.1_Missense_Mutation_p.T541N	p.T547N	NM_001297.4	NP_001288.3	1	2	3	1.993938	Q14028	CNGB1_HUMAN		18	1700	-			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	1	1	hg19	c.1640C>A	CCDS42169.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697899	0.48307	.	.	ENSG00000070729	ENST00000251102	T	0.29397	1.57	4.97	1.69	0.24217	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.34048	0.0884	L	0.57536	1.79	0.09310	N	0.999999	D	0.58970	0.984	P	0.52672	0.706	T	0.12451	-1.0547	10	0.27785	T	0.31	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	N	547	ENSP00000251102:T547N	ENSP00000251102:T547N	T	-	2	0	0	CNGB1	56514681	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_001297			37	36		244	240	0		1			0	0	48	0		1	0	0	0	0	0	0	37	244
CNGB1	1258	broad.mit.edu	37	16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000251102.8	-	16	1286	c.1226T>G	c.(1225-1227)gTt>gGt	p.V409G	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000564448.1_Missense_Mutation_p.V403G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	409					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000251102.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1225-1227)gTt>gGt		cyclic nucleotide gated channel beta 1							92.0	97.0	95.0					16																	57973480		1957	4151	6108	SO:0001583	missense	1258	0	0					g.chr16:57973480A>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1226T>G	chr16.hg19:g.57973480A>C	ENSP00000251102:p.Val409Gly	0					CNGB1_ENST00000564448.1_Missense_Mutation_p.V403G|CNGB1_ENST00000564654.1_5'UTR	p.V409G	NM_001297.4	NP_001288.3	1	2	3	1.993938	Q14028	CNGB1_HUMAN		16	1286	-			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	1	1	hg19	c.1226T>G	CCDS42169.1	1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095945	0.01843	.	.	ENSG00000070729	ENST00000251102	T	0.28255	1.62	0.637	-0.447	0.12234	0.637	-0.447	0.12234	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21965	-1.0230	8	0.66056	D	0.02	.	.	.	.	.	409	Q14028	CNGB1_HUMAN	G	409	ENSP00000251102:V409G	ENSP00000251102:V409G	V	-	2	0	0	CNGB1	56530981	56530981	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.191000	0.10448	-0.407000	0.06327	GTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_001297			63	58		274	260	1		1			0	0	68	0		1	0	0	0	0	0	0	63	274
CNGB1	1258	broad.mit.edu	37	16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000251102.8	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000564448.1_Missense_Mutation_p.P69S|CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	69					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000251102.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(205-207)Cca>Tca		cyclic nucleotide gated channel beta 1							49.0	55.0	53.0					16																	57998403		2025	4181	6206	SO:0001583	missense	1258	0	0					g.chr16:57998403G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.205C>T	chr16.hg19:g.57998403G>A	ENSP00000251102:p.Pro69Ser	0					CNGB1_ENST00000564448.1_Missense_Mutation_p.P69S|CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S	p.P69S	NM_001297.4	NP_001288.3	1	2	3	1.993938	Q14028	CNGB1_HUMAN		3	265	-			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	1	1	hg19	c.205C>T	CCDS42169.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459938	0.26248	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96427	-4.01;0.97	3.75	2.8	0.32819	3.75	2.8	0.32819	.	0.232817	0.22319	N	0.061633	D	0.92993	0.7770	L	0.43923	1.385	0.09310	N	1	P;B	0.36392	0.551;0.028	B;B	0.38842	0.283;0.009	D	0.88097	0.2817	10	0.87932	D	0	.	7.1745	0.25736	0.1202:0.0:0.8798:0.0	.	69;69	Q14028-3;Q14028	.;CNGB1_HUMAN	S	69	ENSP00000251102:P69S;ENSP00000311670:P69S	ENSP00000251102:P69S	P	-	1	0	0	CNGB1	56555904	56555904	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.624000	0.24462	1.157000	0.42530	0.655000	0.94253	CCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-20.000000	1	0.170000	NM_001297			49	47		219	214	1		1			0	0	82	0		1	0	0	0	0	0	0	49	219
ZNF319	57567	broad.mit.edu	37	16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	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)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632																																						ENST00000299237.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(550-552)Ccc>Acc		zinc finger protein 319							88.0	108.0	101.0					16																	58031620		2197	4298	6495	SO:0001583	missense	57567	0	0					g.chr16:58031620G>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.550C>A	chr16.hg19:g.58031620G>T	ENSP00000299237:p.Pro184Thr	0					USB1_ENST00000561743.1_5'Flank	p.P184T	NM_020807.1	NP_065858.1	1	2	3	1.993938	Q9P2F9	ZN319_HUMAN		2	1172	-			Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	1	1	hg19	c.550C>A	CCDS32462.1	1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774707	0.02951	.	.	ENSG00000166188	ENST00000299237	T	0.02863	4.13	3.86	2.87	0.33458	3.86	2.87	0.33458	.	0.103862	0.42172	U	0.000741	T	0.01905	0.0060	L	0.29908	0.895	0.34535	D	0.709588	P	0.39480	0.675	B	0.27887	0.084	T	0.55891	-0.8069	10	0.15499	T	0.54	-12.5787	10.88	0.46933	0.0:0.0:0.8105:0.1895	.	184	Q9P2F9	ZN319_HUMAN	T	184	ENSP00000299237:P184T	ENSP00000299237:P184T	P	-	1	0	0	ZNF319	56589121	56589121	0.969000	0.33509	0.337000	0.25536	0.015000	0.08874	5.094000	0.64523	1.155000	0.42497	0.563000	0.77884	CCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1	1	0	1		2	2	2	0		0	0	177		177	172	1	2.060000	-20.000000	1	0.170000				299	295		1129	1109	1		1	1		0	0	177	0		1	9.851946e-01	0	3	0	24	0	299	1129
MMP15	4324	broad.mit.edu	37	16	58079010	58079010	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079010T>C	ENST00000219271.3	+	10	2455	c.1670T>C	c.(1669-1671)aTg>aCg	p.M557T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	557					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)			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)	CGGGACTTCATGGGCTGCCAG	0.667																																						ENST00000219271.3	1.000000	0.170000	8.000000e-01	3.000000e-01	0.500000	0.541058	0.500000	1.000000																										0				18						c.(1669-1671)aTg>aCg		matrix metallopeptidase 15 (membrane-inserted)	Marimastat(DB00786)						16.0	16.0	16.0					16																	58079010		2197	4300	6497	SO:0001583	missense	4324	0	0					g.chr16:58079010T>C	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.1670T>C	chr16.hg19:g.58079010T>C	ENSP00000219271:p.Met557Thr	0						p.M557T	NM_002428.2	NP_002419.1	1	2	3	1.993938	P51511	MMP15_HUMAN		10	2455	+			A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	0	1	hg19	c.1670T>C	CCDS10792.1	0	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057026	0.76074	.	.	ENSG00000102996	ENST00000219271	T	0.02472	4.28	4.65	4.65	0.58169	4.65	4.65	0.58169	Hemopexin/matrixin (2);	0.037572	0.85682	D	0.000000	T	0.14227	0.0344	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.00163	-1.1969	10	0.87932	D	0	.	12.074	0.53632	0.0:0.0:0.0:1.0	.	557	P51511	MMP15_HUMAN	T	557	ENSP00000219271:M557T	ENSP00000219271:M557T	M	+	2	0	0	MMP15	56636511	56636511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.857000	0.86963	1.958000	0.56883	0.454000	0.30748	ATG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-7.741718	1	0.170000	NM_002428			4	4		102	100	0		1	1		0	0	18	0		8.872446e-01	9.617507e-01	0	14	0	148	0	4	102
MMP15	4324	broad.mit.edu	37	16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	645					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)			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)	CTCACCTACGCGCTGGTGCAG	0.652																																						ENST00000219271.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				18						c.(1933-1935)gCg>gTg		matrix metallopeptidase 15 (membrane-inserted)	Marimastat(DB00786)						118.0	120.0	119.0					16																	58079274		2197	4298	6495	SO:0001583	missense	4324	2	120648	21				g.chr16:58079274C>T	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.1934C>T	chr16.hg19:g.58079274C>T	ENSP00000219271:p.Ala645Val	0						p.A645V	NM_002428.2	NP_002419.1	1	2	3	1.993938	P51511	MMP15_HUMAN		10	2719	+			A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	1	1	hg19	c.1934C>T	CCDS10792.1	1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840009	0.16891	.	.	ENSG00000102996	ENST00000219271	T	0.32023	1.47	4.65	1.37	0.22104	4.65	1.37	0.22104	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.354298	0.31936	N	0.006838	T	0.10937	0.0267	N	0.03209	-0.39	0.40827	D	0.983555	B	0.28470	0.213	B	0.31495	0.131	T	0.09509	-1.0671	10	0.26408	T	0.33	.	3.1214	0.06392	0.0:0.4653:0.219:0.3157	.	645	P51511	MMP15_HUMAN	V	645	ENSP00000219271:A645V	ENSP00000219271:A645V	A	+	2	0	0	MMP15	56636775	56636775	0.652000	0.27349	0.042000	0.18584	0.046000	0.14306	1.282000	0.33226	0.565000	0.29255	0.555000	0.69702	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_002428			16	16		46	45	1		1	1		0	0	15	0		9.999686e-01	1	0	138	0	146	0	16	46
CCDC113	29070	broad.mit.edu	37	16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413																																						ENST00000219299.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(502-504)Act>Cct		coiled-coil domain containing 113							81.0	79.0	80.0					16																	58292383		2198	4300	6498	SO:0001583	missense	29070	0	0					g.chr16:58292383A>C	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.502A>C	chr16.hg19:g.58292383A>C	ENSP00000219299:p.Thr168Pro	0					CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	p.T168P	NM_014157.3	NP_054876.2	1	2	3	1.993938	Q9H0I3	CC113_HUMAN		4	581	+			B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	1	1	hg19	c.502A>C	CCDS10795.1	1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024128	0.35701	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32023	1.47;1.51	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.171358	0.52532	D	0.000061	T	0.27384	0.0672	L	0.55103	1.725	0.34379	D	0.692857	B;B	0.23377	0.012;0.084	B;B	0.24269	0.012;0.052	T	0.32134	-0.9918	10	0.21540	T	0.41	-15.1493	9.5198	0.39129	0.8226:0.1774:0.0:0.0	.	114;168	B4DR20;Q9H0I3	.;CC113_HUMAN	P	114;168	ENSP00000402588:T114P;ENSP00000219299:T168P	ENSP00000219299:T168P	T	+	1	0	0	CCDC113	56849884	56849884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.084000	0.62774	0.533000	0.62120	ACT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_014157			76	73		296	291	1		1	1		0	0	79	0		1	3.589942e-01	0	3	0	3	0	76	296
PRSS54	221191	broad.mit.edu	37	16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463																																						ENST00000219301.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(610-612)Gaa>Aaa		protease, serine, 54							174.0	143.0	154.0					16																	58318538		2198	4300	6498	SO:0001583	missense	221191	0	0					g.chr16:58318538C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.610G>A	chr16.hg19:g.58318538C>T	ENSP00000219301:p.Glu204Lys	0					PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K|PRSS54_ENST00000563336.1_5'UTR	p.E204K	NM_001080492.1	NP_001073961.1	1	2	3	1.993938	Q6PEW0	PRS54_HUMAN		6	1004	-			Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	1	1	hg19	c.610G>A	CCDS32463.1	1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.896084	0.17686	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88509	-2.39;-2.39	5.83	4.88	0.63580	5.83	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.747469	0.12424	N	0.470150	T	0.81069	0.4746	L	0.29908	0.895	0.19775	N	0.99996	P	0.36438	0.553	B	0.37387	0.248	T	0.67381	-0.5685	10	0.05959	T	0.93	-2.453	10.6438	0.45608	0.0:0.9126:0.0:0.0874	.	204	Q6PEW0	PRS54_HUMAN	K	204;105	ENSP00000219301:E204K;ENSP00000437705:E105K	ENSP00000219301:E204K	E	-	1	0	0	PRSS54	56876039	56876039	0.870000	0.30015	0.731000	0.30826	0.022000	0.10575	2.661000	0.46758	1.467000	0.48044	0.563000	0.77884	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001080492			95	94		389	376	1		1			0	0	87	0		1	0	0	0	0	0	0	95	389
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000219301.4	1.000000	0.730000	1	8.400000e-01	0.960000	0.935516	0.960000	1.000000																										0				25						c.(412-414)gCg>gTg		protease, serine, 54		G	VAL/ALA	0,4396		0,0,2198	279.0	241.0	254.0		413	3.5	0.0	16	dbSNP_134	254	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS54	NM_001080492.1	64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/396	58319950	1,12995	2198	4300	6498	SO:0001583	missense	221191	18	121412	49				g.chr16:58319950G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.413C>T	chr16.hg19:g.58319950G>A	ENSP00000219301:p.Ala138Val	0					PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000563336.1_5'Flank	p.A138V	NM_001080492.1	NP_001073961.1	1	2	3	1.993938	Q6PEW0	PRS54_HUMAN		5	807	-			Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	1	1	hg19	c.413C>T	CCDS32463.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.36	2.213193	0.39102	0.0	1.16E-4	ENSG00000103023	ENST00000219301;ENST00000543437	T;T	0.59906	0.23;0.23	5.5	3.47	0.39725	5.5	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437819	0.21555	N	0.072678	T	0.70894	0.3276	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	P	0.62885	0.908	T	0.62656	-0.6808	10	0.54805	T	0.06	-5.0004	11.0333	0.47787	0.0:0.0:0.634:0.366	.	138	Q6PEW0	PRS54_HUMAN	V	138;39	ENSP00000219301:A138V;ENSP00000437705:A39V	ENSP00000219301:A138V	A	-	2	0	0	PRSS54	56877451	56877451	0.018000	0.18449	0.001000	0.08648	0.542000	0.35054	1.985000	0.40668	0.614000	0.30107	-0.284000	0.09977	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-13.429190	1	0.170000	NM_001080492			57	55		646	641	0		1			0	0	157	0		1	0	0	0	0	0	0	57	646
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A	rs377250240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	144					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463																																						ENST00000318129.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(430-432)Gga>Aga		GINS complex subunit 3 (Psf3 homolog)		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4396		0,0,2198	114.0	90.0	98.0		547,196,430	5.9	1.0	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GINS3	NM_001126129.1,NM_001126130.1,NM_022770.3	125,125,125	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	183/256,66/139,144/217	58438412	1,12995	2198	4300	6498	SO:0001583	missense	64785	2	121412	34				g.chr16:58438412G>A	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.430G>A	chr16.hg19:g.58438412G>A	ENSP00000318196:p.Gly144Arg	0					GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	p.G144R	NM_022770.3	NP_073607.2	1	2	3	1.993938	Q9BRX5	PSF3_HUMAN		3	638	+			B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	1	1	hg19	c.430G>A	CCDS10796.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370616	0.82573	0.0	1.16E-4	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.100927	0.64402	D	0.000002	T	0.32133	0.0819	L	0.51914	1.62	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.881	D;P;B	0.67900	0.954;0.875;0.141	T	0.01175	-1.1428	10	0.15952	T	0.53	-0.9754	14.5934	0.68386	0.0714:0.0:0.9286:0.0	.	183;66;144	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	R	183;66;144	ENSP00000401018:G183R;ENSP00000327449:G66R;ENSP00000318196:G144R	ENSP00000318196:G144R	G	+	1	0	0	GINS3	56995913	56995913	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.387000	0.59626	2.824000	0.97209	0.655000	0.94253	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.843453	1	0.170000	NM_022770			52	52		224	219	1		1	1		0	0	56	0		1	9.870851e-01	0	17	0	15	0	52	224
NDRG4	65009	broad.mit.edu	37	16	58538164	58538164	+	Silent	SNP	G	G	A	rs374032396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000570248.1	+	3	340	c.234G>A	c.(232-234)tcG>tcA	p.S78S	NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000394282.4_Silent_p.S130S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000394279.2_Silent_p.S110S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	78					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597																																						ENST00000570248.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(232-234)tcG>tcA		NDRG family member 4		G	,,,,,,	0,4396		0,0,2198	97.0	101.0	100.0		390,324,288,234,234,330,330	-10.7	0.4	16		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	130/392,108/370,96/358,78/353,78/340,110/372,110/372	58538164	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	65009	9	121412	44				g.chr16:58538164G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.234G>A	chr16.hg19:g.58538164G>A		0					NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394282.4_Silent_p.S130S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S	p.S78S	NM_001242835.1	NP_001229764.1	1	2	3	1.993938	Q9ULP0	NDRG4_HUMAN		3	340	+			B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	1	1	hg19	c.234G>A	CCDS58466.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-3.152331	1	0.170000				127	128		618	611	1		1	0		0	0	128	0		1	5.304530e-01	0	1	0	9	0	127	618
NDRG4	65009	broad.mit.edu	37	16	58545414	58545414	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000570248.1	+	15	1099	c.993C>A	c.(991-993)gcC>gcA	p.A331A	NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000394282.4_Silent_p.A370A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000394279.2_Silent_p.A350A	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	331					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667																																						ENST00000570248.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(991-993)gcC>gcA		NDRG family member 4							61.0	58.0	59.0					16																	58545414		2198	4297	6495	SO:0001819	synonymous_variant	65009	0	0					g.chr16:58545414C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.993C>A	chr16.hg19:g.58545414C>A		0					NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394282.4_Silent_p.A370A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000566192.1_Silent_p.A318A	p.A331A	NM_001242835.1	NP_001229764.1	1	2	3	1.993938	Q9ULP0	NDRG4_HUMAN		15	1099	+			B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	1	1	hg19	c.993C>A	CCDS58466.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2	1	0	1		2	2	2	0		0	0	86		86	83	1	2.060000	-4.921998	1	0.170000				116	116		373	369	0		1	1		0	0	86	0		1	9.825963e-01	0	4	0	19	0	116	373
SETD6	79918	broad.mit.edu	37	16	58550529	58550529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000219315.4	+	4	674	c.624C>A	c.(622-624)cgC>cgA	p.R208R	SETD6_ENST00000310682.2_Silent_p.R184R|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.R139R			Q8TBK2	SETD6_HUMAN	SET domain containing 6	208	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567																																						ENST00000219315.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(622-624)cgC>cgA		SET domain containing 6							76.0	76.0	76.0					16																	58550529		2198	4300	6498	SO:0001819	synonymous_variant	79918	0	0					g.chr16:58550529C>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.624C>A	chr16.hg19:g.58550529C>A		0					SETD6_ENST00000394266.4_Silent_p.R139R|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.R184R	p.R208R			1	2	3	1.993938	Q8TBK2	SETD6_HUMAN		4	674	+			A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	1	1	hg19	c.624C>A	CCDS54013.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_024860			51	50		222	217	1		1	1		0	0	59	0		1	9.740045e-01	0	9	0	19	0	51	222
SETD6	79918	broad.mit.edu	37	16	58552845	58552845	+	Missense_Mutation	SNP	C	C	T	rs36085499	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58552845C>T	ENST00000219315.4	+	8	1384	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	SETD6_ENST00000310682.2_Missense_Mutation_p.A421V|SETD6_ENST00000394266.4_Missense_Mutation_p.A376V			Q8TBK2	SETD6_HUMAN	SET domain containing 6	445			A -> V (in dbSNP:rs36085499).		negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAAGTCTATGCGAAACTCAGC	0.443													C|||	3	0.000599042	0.0	0.0	5008	,	,		21698	0.0		0.003	False		,,,				2504	0.0					ENST00000219315.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1333-1335)gCg>gTg		SET domain containing 6		C	VAL/ALA,VAL/ALA	2,4394	4.2+/-10.8	0,2,2196	101.0	98.0	99.0		1334,1262	4.6	0.0	16	dbSNP_126	99	27,8573	19.2+/-60.6	0,27,4273	yes	missense,missense	SETD6	NM_001160305.1,NM_024860.2	64,64	0,29,6469	TT,TC,CC		0.314,0.0455,0.2231	possibly-damaging,possibly-damaging	445/474,421/450	58552845	29,12967	2198	4300	6498	SO:0001583	missense	79918	201	121412	55				g.chr16:58552845C>T	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.1334C>T	chr16.hg19:g.58552845C>T	ENSP00000219315:p.Ala445Val	0					SETD6_ENST00000394266.4_Missense_Mutation_p.A376V|SETD6_ENST00000310682.2_Missense_Mutation_p.A421V	p.A445V			1	2	3	1.993938	Q8TBK2	SETD6_HUMAN		8	1384	+			A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	1	0	hg19	c.1334C>T	CCDS54013.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.81	2.347891	0.41599	4.55E-4	0.00314	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.28454	1.61;1.61;1.61	5.56	4.61	0.57282	5.56	4.61	0.57282	Rubisco LS methyltransferase, substrate-binding domain (2);	0.343478	0.32819	N	0.005613	T	0.34658	0.0905	M	0.61703	1.905	0.09310	N	0.999998	P;P	0.51240	0.943;0.878	P;B	0.47528	0.549;0.183	T	0.18999	-1.0319	10	0.31617	T	0.26	-14.1913	9.0703	0.36488	0.1556:0.7657:0.0:0.0787	rs36085499	445;421	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	V	421;376;445	ENSP00000310082:A421V;ENSP00000377809:A376V;ENSP00000219315:A445V	ENSP00000219315:A445V	A	+	2	0	0	SETD6	57110346	57110346	0.000000	0.05858	0.007000	0.13788	0.250000	0.25880	0.250000	0.18235	1.334000	0.45468	0.655000	0.94253	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.990278	1	0.170000	NM_024860			57	56		281	276	1		1	1		0	0	71	0		1	9.996016e-01	0	17	0	43	0	57	281
CNOT1	23019	broad.mit.edu	37	16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58581543C>T	ENST00000317147.5	-	26	3898	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189	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)			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)		CAGCAAAGAACGATCTGAGAA	0.358																																						ENST00000317147.5	1.000000	0.200000	6.400000e-01	3.100000e-01	0.440000	0.484262	0.440000	0.410000																										0				87						c.(3565-3567)cGt>cAt		CCR4-NOT transcription complex, subunit 1							78.0	73.0	75.0					16																	58581543		2198	4300	6498	SO:0001583	missense	23019	0	0					g.chr16:58581543C>T	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.3566G>A	chr16.hg19:g.58581543C>T	ENSP00000320949:p.Arg1189His	0					SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H	p.R1189H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	1	2	3	1.993938	A5YKK6	CNOT1_HUMAN		26	3898	-			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	0	1	hg19	c.3566G>A	CCDS10799.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.545468	0.96488	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19806	2.12;2.12	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.048935	0.85682	D	0.000000	T	0.53400	0.1794	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.77004	0.989;0.664;0.94	T	0.57335	-0.7829	10	0.87932	D	0	.	18.4816	0.90813	0.0:1.0:0.0:0.0	.	1189;1189;1184	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1189;1184;1189	ENSP00000320949:R1189H;ENSP00000413113:R1189H	ENSP00000320949:R1189H	R	-	2	0	0	CNOT1	57139044	57139044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-9.755252	1	0.170000	NM_016284			8	8		217	210	0		1	1		0	0	57	0		9.883296e-01	9.059701e-01	0	2	0	114	0	8	217
CNOT1	23019	broad.mit.edu	37	16	58621318	58621318	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						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)			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)		GCTTTAAACTCTGAAACAAAC	0.358																																						ENST00000317147.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.e5-1		CCR4-NOT transcription complex, subunit 1							76.0	80.0	79.0					16																	58621318		2198	4300	6498	SO:0001630	splice_region_variant	23019	0	0					g.chr16:58621318C>T	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.310-1G>A	chr16.hg19:g.58621318C>T		0					CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	1	2	3	1.993938	A5YKK6	CNOT1_HUMAN		5	642	-			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	SNP	ENST00000317147.5	1	1	hg19		CCDS10799.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372153	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CNOT1	57178819	57178819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-2.997926	1	0.170000	NM_016284	Intron		61	58		282	277	0		1			0	0	54	0		1	0	0	0	0	0	0	61	282
SLC38A7	55238	broad.mit.edu	37	16	58711301	58711301	+	Silent	SNP	G	G	A	rs111704627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000570101.1	-	5	1522	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000219320.4_Silent_p.Y213Y			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	213					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000570101.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.990389	0.990000	1.000000																										0				13						c.(637-639)taC>taT		solute carrier family 38, member 7		G		6,4390	11.4+/-27.6	0,6,2192	172.0	126.0	142.0		639	-5.1	0.9	16	dbSNP_132	142	0,8600		0,0,4300	no	coding-synonymous	SLC38A7	NM_018231.1		0,6,6492	AA,AG,GG		0.0,0.1365,0.0462		213/463	58711301	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	55238	15	121412	44				g.chr16:58711301G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.639C>T	chr16.hg19:g.58711301G>A		0					SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y	p.Y213Y			1	2	3	1.993938	Q9NVC3	S38A7_HUMAN		5	1522	-			Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	1	1	hg19	c.639C>T	CCDS10800.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.318794	1	0.170000	NM_018231			40	39		359	357	0		1	1		0	0	67	0		1	9.724268e-01	0	6	0	48	0	40	359
SLC38A7	55238	broad.mit.edu	37	16	58713944	58713944	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000570101.1	-	2	970	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000564391.1_Silent_p.P29P			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	29					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627																																						ENST00000570101.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999952	0.990000	1.000000																										0				13						c.(85-87)ccC>ccT		solute carrier family 38, member 7							33.0	31.0	32.0					16																	58713944		2198	4300	6498	SO:0001819	synonymous_variant	55238	0	0					g.chr16:58713944G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.87C>T	chr16.hg19:g.58713944G>A		0					SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron	p.P29P			1	2	3	1.993938	Q9NVC3	S38A7_HUMAN		2	970	-			Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	1	1	hg19	c.87C>T	CCDS10800.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_018231			26	26		132	131	1		1	1		0	0	24	0		1	9.982287e-01	0	9	0	45	0	26	132
CDH8	1006	broad.mit.edu	37	16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					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)			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)		TTTATGCCGCCGTAGAGTTAC	0.383																																						ENST00000577390.1	1.000000	0.100000	3.200000e-01	1.500000e-01	0.220000	0.267070	0.220000	0.210000																										0				112						c.(1933-1935)cGg>cAg		cadherin 8, type 2							61.0	61.0	61.0					16																	61687978		2203	4300	6503	SO:0001583	missense	1006	1	121412	37				g.chr16:61687978C>T	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.1934G>A	chr16.hg19:g.61687978C>T	ENSP00000462701:p.Arg645Gln	0					CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q|CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q	p.R645Q	NM_001796.4	NP_001787.2	1	2	3	1.993938	P55286	CADH8_HUMAN		12	2888	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	0	1	hg19	c.1934G>A	CCDS10802.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	0	CDH8	60245479	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.974021	1	0.170000	NM_001796			8	8		446	439	0		1			0	0	67	0		9.888104e-01	0	0	0	0	0	0	8	446
CDH8	1006	broad.mit.edu	37	16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000577390.1	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	488	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)			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)		GTCATTGACATCCAGCACTTT	0.403																																						ENST00000577390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(1462-1464)gAt>gGt		cadherin 8, type 2							191.0	174.0	180.0					16																	61761071		2203	4299	6502	SO:0001583	missense	1006	0	0					g.chr16:61761071T>C	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.1463A>G	chr16.hg19:g.61761071T>C	ENSP00000462701:p.Asp488Gly	0					CDH8_ENST00000577730.1_Missense_Mutation_p.D488G|CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G	p.D488G	NM_001796.4	NP_001787.2	1	2	3	1.993938	P55286	CADH8_HUMAN		9	2417	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	1	1	hg19	c.1463A>G	CCDS10802.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900754	0.92035	.	.	ENSG00000150394	ENST00000299345	T	0.02944	4.1	5.75	5.75	0.90469	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	T	0.56956	-0.7893	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	304;488	Q3LID3;P55286	.;CADH8_HUMAN	G	488	ENSP00000299345:D488G	ENSP00000299345:D488G	D	-	2	0	0	CDH8	60318572	60318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	GAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_001796			156	150		645	637	1		1	0		0	0	159	0		1	0	0	0	0	1	0	156	645
PIGQ	9091	broad.mit.edu	37	16	624165	624165	+	Missense_Mutation	SNP	G	G	A	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000026218.5	+	2	179	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000321878.5_Missense_Mutation_p.V31M|PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	31					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701																																						ENST00000026218.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(91-93)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class Q		G	MET/VAL,MET/VAL	0,4400		0,0,2200	76.0	61.0	66.0		91,91	5.2	0.9	16	dbSNP_134	66	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	21,21	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/582,31/761	624165	1,12995	2200	4298	6498	SO:0001583	missense	9091	11	121226	39				g.chr16:624165G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.91G>A	chr16.hg19:g.624165G>A	ENSP00000026218:p.Val31Met	0					PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000321878.5_Missense_Mutation_p.V31M|PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M	p.V31M	NM_148920.2	NP_683721.1	1	2	3	2.056757	Q9BRB3	PIGQ_HUMAN		2	179	+		Hepatocellular(780;0.00335)	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	1	1	hg19	c.91G>A	CCDS10411.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620397	0.66787	0.0	1.16E-4	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58652	0.38;0.43;0.36;0.42;0.43;0.42;1.68;0.32	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.982;0.992;0.988	T	0.77101	-0.2712	10	0.87932	D	0	-31.9028	17.6476	0.88153	0.0:0.0:1.0:0.0	.	45;31;31;31	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	M	31	ENSP00000293874:V31M;ENSP00000386760:V31M;ENSP00000386554:V31M;ENSP00000413753:V31M;ENSP00000326674:V31M;ENSP00000387820:V31M;ENSP00000026218:V31M;ENSP00000439650:V31M	ENSP00000026218:V31M	V	+	1	0	0	PIGQ	564166	564166	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	6.413000	0.73308	2.409000	0.81822	0.511000	0.50034	GTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_004204			58	58		157	151	1		1	1		0	0	35	0		1	8.375652e-01	0	7	0	4	0	58	157
PIGQ	9091	broad.mit.edu	37	16	628425	628425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000026218.5	+	5	1077	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000321878.5_Missense_Mutation_p.A330V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	330	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677																																						ENST00000026218.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(988-990)gCt>gTt		phosphatidylinositol glycan anchor biosynthesis, class Q							41.0	36.0	37.0					16																	628425		2197	4298	6495	SO:0001583	missense	9091	0	0					g.chr16:628425C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.989C>T	chr16.hg19:g.628425C>T	ENSP00000026218:p.Ala330Val	0					PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000321878.5_Missense_Mutation_p.A330V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V	p.A330V	NM_148920.2	NP_683721.1	1	2	3	2.056757	Q9BRB3	PIGQ_HUMAN		5	1077	+		Hepatocellular(780;0.00335)	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	1	1	hg19	c.989C>T	CCDS10411.1	1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715057	0.15306	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44881	0.91;0.91;2.2	5.47	3.32	0.38043	5.47	3.32	0.38043	.	0.097986	0.64402	D	0.000001	T	0.16896	0.0406	N	0.02213	-0.635	0.80722	D	1	P;P;B	0.44776	0.62;0.843;0.033	B;B;B	0.40659	0.136;0.336;0.027	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.6134	10.2282	0.43238	0.0:0.7882:0.0:0.2118	.	344;330;330	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	330	ENSP00000386760:A330V;ENSP00000326674:A330V;ENSP00000026218:A330V	ENSP00000026218:A330V	A	+	2	0	0	PIGQ	568426	568426	0.983000	0.35010	0.045000	0.18777	0.349000	0.29174	2.593000	0.46180	1.337000	0.45525	-0.229000	0.12294	GCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_004204			44	44		235	234	1		1	1		0	0	32	0		1	9.999910e-01	0	34	0	62	0	44	235
PIGQ	9091	broad.mit.edu	37	16	633231	633231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	627					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCAGCCAGGCTGGCCGCA	0.642																																						ENST00000026218.5	1.000000	0.300000	1	3.600000e-01	0.430000	0.522373	0.430000	0.410000																										0				13						c.(1879-1881)aGg>aTg		phosphatidylinositol glycan anchor biosynthesis, class Q							104.0	112.0	109.0					16																	633231		2201	4300	6501	SO:0001583	missense	9091	0	0					g.chr16:633231G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1880G>T	chr16.hg19:g.633231G>T	ENSP00000026218:p.Arg627Met	0					PIGQ_ENST00000321878.5_3'UTR	p.R627M	NM_148920.2	NP_683721.1	1	2	3	2.056757	Q9BRB3	PIGQ_HUMAN		10	1968	+		Hepatocellular(780;0.00335)	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	1	1	hg19	c.1880G>T	CCDS10411.1	0	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443129	0.25987	.	.	ENSG00000007541	ENST00000026218	T	0.23950	1.88	3.49	-1.56	0.08532	3.49	-1.56	0.08532	.	0.716622	0.12313	N	0.479982	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	D;B	0.55605	0.972;0.41	P;B	0.49047	0.599;0.146	T	0.15178	-1.0446	9	.	.	.	.	3.4154	0.07373	0.4076:0.2047:0.3877:0.0	.	197;627	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	M	627	ENSP00000026218:R627M	.	R	+	2	0	0	PIGQ	573232	573232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.537000	0.02206	-0.037000	0.13646	-0.513000	0.04457	AGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	0	0	1		2	2	2	0		0	0	179		179	175	1	2.060000	-3.572200	1	0.170000	NM_004204			42	42		1176	1162	0		1	1		0	0	179	0		1	9.478730e-01	0	12	0	125	0	42	1176
PIGQ	9091	broad.mit.edu	37	16	633554	633554	+	Missense_Mutation	SNP	G	G	A	rs575374982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	735					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.0		0.001	False		,,,				2504	0.0					ENST00000026218.5	1.000000	0.720000	1	8.500000e-01	0.990000	0.948794	0.990000	1.000000																										0				13						c.(2203-2205)Gtc>Atc		phosphatidylinositol glycan anchor biosynthesis, class Q							37.0	39.0	38.0					16																	633554		2200	4300	6500	SO:0001583	missense	9091	2	121376	28				g.chr16:633554G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2203G>A	chr16.hg19:g.633554G>A	ENSP00000026218:p.Val735Ile	0					PIGQ_ENST00000321878.5_3'UTR	p.V735I	NM_148920.2	NP_683721.1	1	2	3	2.056757	Q9BRB3	PIGQ_HUMAN		10	2291	+		Hepatocellular(780;0.00335)	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	1	1	hg19	c.2203G>A	CCDS10411.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689420	0.29962	.	.	ENSG00000007541	ENST00000026218	T	0.20881	2.04	3.3	-6.6	0.01824	3.3	-6.6	0.01824	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	P;B	0.47677	0.899;0.13	B;B	0.34824	0.19;0.022	T	0.28554	-1.0040	8	.	.	.	.	2.0104	0.03486	0.1858:0.2673:0.397:0.1499	.	305;735	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	735	ENSP00000026218:V735I	.	V	+	1	0	0	PIGQ	573555	573555	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.619000	0.02048	-1.407000	0.02043	0.449000	0.29647	GTC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_004204			37	36		413	406	1		1	1		0	0	70	0		1	9.999515e-01	0	26	0	141	0	37	413
CDH8	1006	broad.mit.edu	37	16	61891126	61891126	+	Silent	SNP	G	G	A	rs113885361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000577390.1	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	188	Cadherin 2. {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)			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)		TCGCAGTGACGTTAGTGACAG	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		16997	0.002		0.0	False		,,,				2504	0.0					ENST00000577390.1	1.000000	0.320000	8.000000e-01	4.400000e-01	0.590000	0.618414	0.590000	0.550000																										0				112						c.(562-564)aaC>aaT		cadherin 8, type 2							68.0	62.0	64.0					16																	61891126		2203	4300	6503	SO:0001819	synonymous_variant	1006	3	121382	38				g.chr16:61891126G>A	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.564C>T	chr16.hg19:g.61891126G>A		0					CDH8_ENST00000577730.1_Silent_p.N188N|CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N	p.N188N	NM_001796.4	NP_001787.2	1	2	3	1.993938	P55286	CADH8_HUMAN		4	1518	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	1	1	hg19	c.564C>T	CCDS10802.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-14.140530	1	0.170000	NM_001796			12	10		237	230	0		1			0	0	48	0		9.989767e-01	0	0	0	0	0	0	12	237
CDH11	1009	broad.mit.edu	37	16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P578H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCAGGTCTAGGCATGTACTG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4	1.000000	0.310000	5.900000e-01	3.900000e-01	0.470000	0.508135	0.470000	0.470000				Dom	yes			Dom	yes		16	16q22.1	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""				M	M	USP6		aneurysmal bone cysts		0				88						c.(2110-2112)cCt>cAt		cadherin 11, type 2, OB-cadherin (osteoblast)							131.0	123.0	126.0					16																	64981786		2203	4300	6503	SO:0001583	missense	1009	0	0					g.chr16:64981786G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2111C>A	chr16.hg19:g.64981786G>T	ENSP00000268603:p.Pro704His	0	TSP Lung(24;0.17)				CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P578H	p.P704H	NM_001797.2	NP_001788.2	1	2	3	1.993938	P55287	CAD11_HUMAN		13	2726	-		Ovarian(137;0.0973)	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	1	1	hg19	c.2111C>A	CCDS10803.1	0	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215385	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78816	-1.21	6.17	6.17	0.99709	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.197764	0.53938	D	0.000052	D	0.86772	0.6013	M	0.66939	2.045	0.53688	D	0.99997	D	0.67145	0.996	D	0.67231	0.95	T	0.83101	-0.0128	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	704	P55287	CAD11_HUMAN	H	704;687	ENSP00000268603:P704H	ENSP00000268603:P704H	P	-	2	0	0	CDH11	63539287	63539287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.941000	0.99782	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-4.010006	1	0.170000	NM_033664			26	26		627	615	0		1	0		0	0	117	0		9.999999e-01	9.999974e-01	0	0	0	494	0	26	627
CDH11	1009	broad.mit.edu	37	16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000268603.4	-	10	2038	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000394156.3_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	475	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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998573	0.990000	1.000000				Dom	yes			Dom	yes		16	16q22.1	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""				M	M	USP6		aneurysmal bone cysts		0				88						c.(1423-1425)Gcc>Acc		cadherin 11, type 2, OB-cadherin (osteoblast)							105.0	91.0	96.0					16																	65005935		2203	4300	6503	SO:0001583	missense	1009	0	0					g.chr16:65005935C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1423G>A	chr16.hg19:g.65005935C>T	ENSP00000268603:p.Ala475Thr	0	TSP Lung(24;0.17)				CDH11_ENST00000394156.3_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T	p.A475T	NM_001797.2	NP_001788.2	1	2	3	1.993938	P55287	CAD11_HUMAN		10	2038	-		Ovarian(137;0.0973)	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	1	1	hg19	c.1423G>A	CCDS10803.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.02682	4.2;4.2	5.91	4.95	0.65309	5.91	4.95	0.65309	Cadherin (5);Cadherin-like (1);	0.325201	0.36628	N	0.002483	T	0.02380	0.0073	N	0.11673	0.155	0.42665	D	0.99349	B;B	0.23128	0.063;0.08	B;B	0.26864	0.055;0.074	T	0.58584	-0.7611	10	0.22706	T	0.39	.	15.5412	0.76048	0.139:0.8609:0.0:0.0	.	475;475	P55287-2;P55287	.;CAD11_HUMAN	T	475;475;458	ENSP00000268603:A475T;ENSP00000377711:A475T	ENSP00000268603:A475T	A	-	1	0	0	CDH11	63563436	63563436	0.734000	0.28142	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	1.484000	0.48361	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-13.386370	1	0.170000	NM_033664			28	28		197	193	1		1	0		0	0	58	0		1	1	0	0	0	509	0	28	197
CDH11	1009	broad.mit.edu	37	16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A	rs547313548	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000268603.4	-	3	694	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000394156.3_Missense_Mutation_p.R27W|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	27					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		18947	0.0		0.0	False		,,,				2504	0.0					ENST00000268603.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999619	0.990000	1.000000				Dom	yes			Dom	yes		16	16q22.1	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""				M	M	USP6		aneurysmal bone cysts		0				88						c.(79-81)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							18.0	21.0	20.0					16																	65038694		2202	4299	6501	SO:0001583	missense	1009	3	121124	37				g.chr16:65038694G>A	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.79C>T	chr16.hg19:g.65038694G>A	ENSP00000268603:p.Arg27Trp	0	TSP Lung(24;0.17)				CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.R27W|CDH11_ENST00000566827.1_Intron	p.R27W	NM_001797.2	NP_001788.2	1	2	3	1.993938	P55287	CAD11_HUMAN		3	694	-		Ovarian(137;0.0973)	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	1	1	hg19	c.79C>T	CCDS10803.1	1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948665	0.18356	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.33	0.28932	5.74	2.33	0.28932	.	0.534254	0.19811	N	0.105525	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.0;0.75	B;B	0.37346	0.0;0.247	T	0.18147	-1.0346	10	0.66056	D	0.02	.	7.7322	0.28793	0.0908:0.0:0.4795:0.4297	.	27;27	P55287-2;P55287	.;CAD11_HUMAN	W	27	ENSP00000268603:R27W;ENSP00000377711:R27W	ENSP00000268603:R27W	R	-	1	2	2	CDH11	63596195	63596195	0.503000	0.26115	0.996000	0.52242	0.546000	0.35178	0.589000	0.23939	0.692000	0.31613	0.591000	0.81541	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-20.000000	1	0.170000	NM_033664			14	12		58	54	1		1	0		0	0	20	0		9.997324e-01	1	0	0	0	255	0	14	58
CDH5	1003	broad.mit.edu	37	16	66420804	66420804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGACAGGAGACGTGTTCGCCA	0.512																																						ENST00000341529.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				54						c.(301-303)gaC>gaT		cadherin 5, type 2 (vascular endothelium)	Lenalidomide(DB00480)						99.0	85.0	90.0					16																	66420804		2202	4300	6502	SO:0001819	synonymous_variant	1003	0	0					g.chr16:66420804C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.303C>T	chr16.hg19:g.66420804C>T		0					CDH5_ENST00000563425.2_Silent_p.D101D	p.D101D	NM_001795.3	NP_001786.2	1	2	3	1.993938	P33151	CADH5_HUMAN		3	451	+		Ovarian(137;0.0955)	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	1	1	hg19	c.303C>T	CCDS10804.1	1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366899	0.05069	.	.	ENSG00000179776	ENST00000539262	.	.	.	5.79	-6.06	0.02165	5.79	-6.06	0.02165	.	.	.	.	.	T	0.70245	0.3202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	5	0.87932	D	0	.	15.9692	0.79998	0.0:0.2583:0.0:0.7417	.	.	.	.	M	23	.	ENSP00000437691:T23M	T	+	2	0	0	CDH5	64978305	64978305	0.094000	0.21725	0.583000	0.28640	0.378000	0.30076	-0.609000	0.05635	-1.009000	0.03400	-0.137000	0.14449	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001795			28	27		158	155	1		1	0		0	0	41	0		1	9.964817e-01	0	0	0	53	0	28	158
CDH5	1003	broad.mit.edu	37	16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000341529.3	+	8	1402	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGGGCCAGTTCTTCCGAGTCA	0.488																																						ENST00000341529.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1252-1254)ttC>ttA		cadherin 5, type 2 (vascular endothelium)	Lenalidomide(DB00480)						91.0	85.0	87.0					16																	66429998		2201	4300	6501	SO:0001583	missense	1003	0	0					g.chr16:66429998C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1254C>A	chr16.hg19:g.66429998C>A	ENSP00000344115:p.Phe418Leu	0					CDH5_ENST00000539168.1_5'UTR	p.F418L	NM_001795.3	NP_001786.2	1	2	3	1.993938	P33151	CADH5_HUMAN		8	1402	+		Ovarian(137;0.0955)	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	1	1	hg19	c.1254C>A	CCDS10804.1	1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778105	0.31502	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.69685	-0.42	4.96	3.93	0.45458	4.96	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51753	0.1693	N	0.25789	0.76	0.50813	D	0.999897	B	0.17852	0.024	B	0.29077	0.098	T	0.48927	-0.8991	9	0.34782	T	0.22	.	7.1131	0.25401	0.1751:0.727:0.0:0.0979	.	418	P33151	CADH5_HUMAN	L	418;159	ENSP00000344115:F418L	ENSP00000344115:F418L	F	+	3	2	2	CDH5	64987499	64987499	0.905000	0.30787	0.999000	0.59377	0.590000	0.36582	0.389000	0.20751	2.590000	0.87494	0.561000	0.74099	TTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_001795			71	70		269	265	1		1	0		0	0	73	0		1	9.999841e-01	0	0	0	63	0	71	269
CDH5	1003	broad.mit.edu	37	16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000341529.3	+	9	1511	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCTGCAGGAACCCCCACAGG	0.542																																						ENST00000341529.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1363-1365)Acc>Gcc		cadherin 5, type 2 (vascular endothelium)	Lenalidomide(DB00480)						101.0	100.0	100.0					16																	66431887		2201	4300	6501	SO:0001583	missense	1003	0	0					g.chr16:66431887A>G	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1363A>G	chr16.hg19:g.66431887A>G	ENSP00000344115:p.Thr455Ala	0					CDH5_ENST00000539168.1_5'UTR	p.T455A	NM_001795.3	NP_001786.2	1	2	3	1.993938	P33151	CADH5_HUMAN		9	1511	+		Ovarian(137;0.0955)	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	1	1	hg19	c.1363A>G	CCDS10804.1	1	.	.	.	.	.	.	.	.	.	.	A	5.119	0.207528	0.09704	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.49720	0.77	4.4	0.705	0.18127	4.4	0.705	0.18127	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.22389	N	0.999149	B	0.11235	0.004	B	0.17979	0.02	T	0.21314	-1.0249	9	0.15066	T	0.55	.	0.9773	0.01428	0.3435:0.2616:0.0919:0.303	.	455	P33151	CADH5_HUMAN	A	455;196	ENSP00000344115:T455A	ENSP00000344115:T455A	T	+	1	0	0	CDH5	64989388	64989388	0.001000	0.12720	0.013000	0.15412	0.396000	0.30629	1.223000	0.32527	-0.077000	0.12752	0.459000	0.35465	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-20.000000	1	0.170000	NM_001795			79	78		437	434	1		1	0		0	0	123	0		1	9.984084e-01	0	0	0	55	0	79	437
CDH5	1003	broad.mit.edu	37	16	66436913	66436913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000341529.3	+	12	2344	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CDH5_ENST00000539168.1_Silent_p.G171G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ACATCTACGGCTACGAGGGCT	0.642																																						ENST00000341529.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				54						c.(2194-2196)ggC>ggT		cadherin 5, type 2 (vascular endothelium)	Lenalidomide(DB00480)						55.0	46.0	49.0					16																	66436913		2200	4300	6500	SO:0001819	synonymous_variant	1003	0	0					g.chr16:66436913C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2196C>T	chr16.hg19:g.66436913C>T		0					CDH5_ENST00000539168.1_Silent_p.G171G	p.G732G	NM_001795.3	NP_001786.2	1	2	3	1.993938	P33151	CADH5_HUMAN		12	2344	+		Ovarian(137;0.0955)	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	1	1	hg19	c.2196C>T	CCDS10804.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_001795			28	28		101	101	1		1	0		0	0	24	0		1	9.999258e-01	0	0	0	59	0	28	101
DYNC1LI2	1783	broad.mit.edu	37	16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000258198.2	-	1	210	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	2					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)			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)		CCCACCGGCGCCATCTTGCCA	0.756																																						ENST00000258198.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(4-6)Gcg>Tcg		dynein, cytoplasmic 1, light intermediate chain 2							13.0	16.0	15.0					16																	66785491		2071	4067	6138	SO:0001583	missense	1783	0	0					g.chr16:66785491C>A	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.4G>T	chr16.hg19:g.66785491C>A	ENSP00000258198:p.Ala2Ser	0					DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	p.A2S	NM_006141.2	NP_006132.1	1	2	3	1.993938	O43237	DC1L2_HUMAN		1	210	-		Ovarian(137;0.0563)	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	1	1	hg19	c.4G>T	CCDS10818.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576714	0.86645	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.50277	2.17;0.77;0.75;1.16	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.49213	D	0.999766	B;B;P;D	0.63880	0.037;0.001;0.953;0.993	B;B;D;D	0.70227	0.017;0.001;0.935;0.968	T	0.38972	-0.9636	10	0.18276	T	0.48	-9.9804	14.7925	0.69854	0.0:1.0:0.0:0.0	.	2;2;2;2	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	S	2	ENSP00000258198:A2S;ENSP00000368795:A2S;ENSP00000394289:A2S;ENSP00000408566:A2S	ENSP00000258198:A2S	A	-	1	0	0	DYNC1LI2	65342992	65342992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.106000	0.50322	1.985000	0.57927	0.557000	0.71058	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_006141			51	47		208	201	0		1	1		0	0	32	0		1	9.969967e-01	0	11	0	27	0	51	208
RRAD	6236	broad.mit.edu	37	16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes	272					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607																																						ENST00000299759.6	1.000000	0.700000	1	8.400000e-01	0.990000	0.941172	0.990000	1.000000																										0				17						c.(814-816)gaG>gaT		Ras-related associated with diabetes							97.0	77.0	84.0					16																	66956090		2200	4300	6500	SO:0001583	missense	6236	0	0					g.chr16:66956090C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.816G>T	chr16.hg19:g.66956090C>A	ENSP00000299759:p.Glu272Asp	0					RRAD_ENST00000420652.1_Missense_Mutation_p.E272D	p.E272D			1	2	3	1.993938	P55042	RAD_HUMAN		5	1066	-		Ovarian(137;0.192)	Q96F39	Missense_Mutation	SNP	ENST00000299759.6	1	1	hg19	c.816G>T	CCDS10824.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241458	0.79912	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	2.94	0.34122	5.93	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77103	2.36	0.51482	D	0.999929	D	0.58970	0.984	D	0.66979	0.948	T	0.75233	-0.3390	10	0.42905	T	0.14	.	8.2417	0.31665	0.0:0.5943:0.0:0.4057	.	272	P55042	RAD_HUMAN	D	272	ENSP00000388744:E272D;ENSP00000299759:E272D	ENSP00000299759:E272D	E	-	3	2	2	RRAD	65513591	65513591	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.302000	0.43637	0.838000	0.34948	0.561000	0.74099	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.221884	1	0.170000	NM_004165			31	30		336	331	1		1	1		0	0	69	0		1	9.995717e-01	0	22	0	108	0	31	336
CES3	23491	broad.mit.edu	37	16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000303334.4	+	11	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	432						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498																																						ENST00000303334.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1294-1296)tCt>tTt		carboxylesterase 3							303.0	315.0	311.0					16																	67006262		2200	4300	6500	SO:0001583	missense	23491	0	0					g.chr16:67006262C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1295C>T	chr16.hg19:g.67006262C>T	ENSP00000304782:p.Ser432Phe	0					CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	p.S432F	NM_024922.5	NP_079198.2	1	2	3	1.993938	Q6UWW8	EST3_HUMAN		11	1366	+		Ovarian(137;0.0563)	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	1	1	hg19	c.1295C>T	CCDS10826.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743562	0.69418	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.09911	2.93;2.93;2.93	5.13	3.15	0.36227	5.13	3.15	0.36227	Carboxylesterase, type B (1);	0.442058	0.16934	N	0.193544	T	0.11110	0.0271	L	0.43554	1.36	0.25662	N	0.986	B;B	0.15719	0.003;0.014	B;B	0.22152	0.026;0.038	T	0.20438	-1.0275	10	0.87932	D	0	.	9.6111	0.39663	0.0:0.7787:0.1426:0.0787	.	71;432	F5H242;Q6UWW8	.;EST3_HUMAN	F	432;432;71	ENSP00000304782:S432F;ENSP00000377602:S432F;ENSP00000445559:S71F	ENSP00000304782:S432F	S	+	2	0	0	CES3	65563763	65563763	0.931000	0.31567	0.010000	0.14722	0.051000	0.14879	2.671000	0.46842	0.554000	0.29061	-0.304000	0.09214	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	1	0	1		16	2	2	0		0	1	500		500	496	1	2.060000	-20.000000	1	0.170000	NM_024922			368	367		1729	1693	1		1	0		0	0	500	0		1	6.489127e-01	0	1	0	11	0	368	1729
CES3	23491	broad.mit.edu	37	16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000303334.4	+	13	1745	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	558						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577																																						ENST00000303334.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.990708	0.990000	1.000000																										0				24						c.(1672-1674)tgG>tgA		carboxylesterase 3							72.0	64.0	67.0					16																	67006910		2200	4300	6500	SO:0001587	stop_gained	23491	0	0					g.chr16:67006910G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1674G>A	chr16.hg19:g.67006910G>A	ENSP00000304782:p.Trp558*	0					CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	p.W558*	NM_024922.5	NP_079198.2	1	2	3	1.993938	Q6UWW8	EST3_HUMAN		13	1745	+		Ovarian(137;0.0563)	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Nonsense_Mutation	SNP	ENST00000303334.4	0	1	hg19	c.1674G>A	CCDS10826.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196124	0.78902	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	.	.	.	3.54	2.58	0.30949	3.54	2.58	0.30949	.	0.538057	0.14257	N	0.331073	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5445	0.33413	0.1187:0.0:0.8813:0.0	.	.	.	.	X	558;555;197	.	ENSP00000304782:W558X	W	+	3	0	0	CES3	65564411	65564411	0.025000	0.19082	0.280000	0.24747	0.027000	0.11550	0.550000	0.23345	1.995000	0.58328	0.579000	0.79373	TGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_024922			35	35		307	302	1		1	1		0	0	79	0		1	3.995196e-01	0	6	0	7	0	35	307
C16orf70	80262	broad.mit.edu	37	16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458																																						ENST00000219139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(70-72)cCt>cTt		chromosome 16 open reading frame 70							140.0	128.0	132.0					16																	67154021		2200	4300	6500	SO:0001583	missense	80262	0	0					g.chr16:67154021C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.71C>T	chr16.hg19:g.67154021C>T	ENSP00000219139:p.Pro24Leu	0					C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	p.P24L	NM_025187.3	NP_079463.2	1	2	3	1.993938	Q9BSU1	CP070_HUMAN		2	259	+		Ovarian(137;0.192)	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	1	1	hg19	c.71C>T	CCDS10828.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162170	0.57368	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.81497	2.545	0.80722	D	1	P;B	0.46220	0.874;0.339	B;B	0.43508	0.422;0.306	T	0.73678	-0.3907	9	0.54805	T	0.06	-23.057	17.8263	0.88666	0.0:1.0:0.0:0.0	.	2;24	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	L	24	.	ENSP00000219139:P24L	P	+	2	0	0	C16orf70	65711522	65711522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.971000	0.76105	2.805000	0.96524	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_025187			79	79		403	398	1		1	1		0	0	97	0		1	9.699456e-01	0	9	0	22	0	79	403
C16orf70	80262	broad.mit.edu	37	16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512																																						ENST00000219139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(613-615)cGa>cAa		chromosome 16 open reading frame 70							282.0	260.0	267.0					16																	67168323		2200	4300	6500	SO:0001583	missense	80262	1	121412	36				g.chr16:67168323G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.614G>A	chr16.hg19:g.67168323G>A	ENSP00000219139:p.Arg205Gln	0					C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	p.R205Q	NM_025187.3	NP_079463.2	1	2	3	1.993938	Q9BSU1	CP070_HUMAN		8	802	+		Ovarian(137;0.192)	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	1	1	hg19	c.614G>A	CCDS10828.1	1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444686	0.63178	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.71036	2.16	0.58432	D	0.999999	P	0.50819	0.939	P	0.47891	0.56	T	0.65191	-0.6228	9	0.24483	T	0.36	-3.9249	19.0219	0.92919	0.0:0.0:1.0:0.0	.	205	Q9BSU1	CP070_HUMAN	Q	205	.	ENSP00000219139:R205Q	R	+	2	0	0	C16orf70	65725824	65725824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.835000	0.97688	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	1	0	1		2	2	2	0		0	0	256		256	253	1	2.060000	-20.000000	1	0.170000	NM_025187			277	275		1175	1155	1		1	1		0	0	256	0		1	9.998237e-01	0	18	0	36	0	277	1175
TRADD	8717	broad.mit.edu	37	16	67190432	67190432	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345057.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(130-132)gcT>gcC		TNFRSF1A-associated via death domain							83.0	72.0	76.0					16																	67190432		2198	4300	6498	SO:0001819	synonymous_variant	8717	0	0					g.chr16:67190432A>G	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.132T>C	chr16.hg19:g.67190432A>G		0		OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	p.A44A	NM_003789.3	NP_003780.1	1	2	3	1.993938	Q15628	TRADD_HUMAN		2	600	-		Ovarian(137;0.0563)	B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	1	1	hg19	c.132T>C	CCDS10829.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-20.000000	1	0.170000				84	78		400	388	1		1	1		0	0	105	0		1	1	0	70	0	121	0	84	400
HSF4	3299	broad.mit.edu	37	16	67199722	67199722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000521374.1	+	3	333	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000264009.8_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	111					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687																																						ENST00000521374.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999786	0.990000	1.000000																										0				12						c.(331-333)gaG>gaA		heat shock transcription factor 4							10.0	14.0	13.0					16																	67199722		1880	3957	5837	SO:0001819	synonymous_variant	3299	0	0					g.chr16:67199722G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.333G>A	chr16.hg19:g.67199722G>A		0					HSF4_ENST00000584272.1_Silent_p.E111E|HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000264009.8_Silent_p.E111E	p.E111E			1	2	3	1.993938	Q9ULV5	HSF4_HUMAN		3	333	+		Ovarian(137;0.0563)	Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	1	1	hg19	c.333G>A	CCDS42175.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000	NM_001538			24	24		134	132	0		1	1		0	0	32	0		9.999998e-01	2.523292e-02	0	2	0	0	0	24	134
KIAA0895L	653319	broad.mit.edu	37	16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587																																						ENST00000290881.7	1.000000	0.630000	1	7.500000e-01	0.900000	0.886821	0.900000	1.000000																										0				17						c.(430-432)Cgg>Tgg		KIAA0895-like							92.0	98.0	96.0					16																	67214084		1979	4158	6137	SO:0001583	missense	653319	0	0					g.chr16:67214084G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.430C>T	chr16.hg19:g.67214084G>A	ENSP00000290881:p.Arg144Trp	0					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W	p.R144W			1	2	3	1.993938	Q68EN5	K895L_HUMAN		3	1356	-			A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	1	1	hg19	c.430C>T	CCDS42177.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581171	0.65992	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.76	0.32466	4.92	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.58101	1.795	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72551	-0.4259	9	0.87932	D	0	-22.2723	11.5454	0.50690	0.0:0.0:0.6661:0.3339	.	144;144	Q68EN5-2;Q68EN5	.;K895L_HUMAN	W	144	.	ENSP00000290881:R144W	R	-	1	2	2	KIAA0895L	65771585	65771585	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.174000	0.16743	1.245000	0.43885	0.555000	0.69702	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.806909	1	0.170000	NM_001040715			32	33		391	389	0		1	0		0	0	87	0		1	4.092846e-01	0	1	0	17	0	32	391
KIAA0895L	653319	broad.mit.edu	37	16	67214520	67214520	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like											breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCATTCTGTCCTGGGGGTCAC	0.627																																						ENST00000290881.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17								KIAA0895-like							18.0	22.0	21.0					16																	67214520		1767	3659	5426			653319	0	0					g.chr16:67214520C>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.-7G>T	chr16.hg19:g.67214520C>A		0					KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame				1	2	3	1.993938	Q68EN5	K895L_HUMAN		0	920	-			A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Translation_Start_Site	SNP	ENST00000290881.7	0	1	hg19		CCDS42177.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_001040715			42	42		140	137	0		1	1		0	0	22	0		1	9.813952e-01	0	10	0	14	0	42	140
E2F4	1874	broad.mit.edu	37	16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	180	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562																																						ENST00000379378.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(538-540)caG>caT		E2F transcription factor 4, p107/p130-binding							106.0	102.0	103.0					16																	67228615		2198	4300	6498	SO:0001583	missense	1874	0	0					g.chr16:67228615G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.540G>T	chr16.hg19:g.67228615G>T	ENSP00000368686:p.Gln180His	0					E2F4_ENST00000564718.1_3'UTR	p.Q180H	NM_001950.3	NP_001941.2	1	2	3	1.993938	Q16254	E2F4_HUMAN		6	599	+		Ovarian(137;0.0563)	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	1	1	hg19	c.540G>T	CCDS32464.1	1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494055	0.44352	.	.	ENSG00000205250	ENST00000379378	D	0.87029	-2.2	5.72	4.77	0.60923	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.85859	2.78	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94264	0.7505	10	0.87932	D	0	-16.4072	13.4026	0.60891	0.0762:0.0:0.9238:0.0	.	180	Q16254	E2F4_HUMAN	H	180	ENSP00000368686:Q180H	ENSP00000368686:Q180H	Q	+	3	2	2	E2F4	65786116	65786116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	1.424000	0.47217	0.655000	0.94253	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_001950			67	65		300	293	1		1	1		0	0	64	0		1	1	0	31	0	143	0	67	300
E2F4	1874	broad.mit.edu	37	16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	293			T -> P (in dbSNP:rs1801013).		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587																																						ENST00000379378.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				11						c.(877-879)Aca>Tca		E2F transcription factor 4, p107/p130-binding							77.0	71.0	73.0					16																	67229753		2198	4300	6498	SO:0001583	missense	1874	0	0					g.chr16:67229753A>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.877A>T	chr16.hg19:g.67229753A>T	ENSP00000368686:p.Thr293Ser	0						p.T293S	NM_001950.3	NP_001941.2	1	2	3	1.993938	Q16254	E2F4_HUMAN		7	936	+		Ovarian(137;0.0563)	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	1	1	hg19	c.877A>T	CCDS32464.1	1	.	.	.	.	.	.	.	.	.	.	A	4.392	0.072297	0.08436	.	.	ENSG00000205250	ENST00000379378	D	0.83914	-1.78	4.64	1.54	0.23209	4.64	1.54	0.23209	.	0.534717	0.13958	N	0.351005	T	0.47135	0.1429	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	10	0.05721	T	0.95	-0.1102	4.5922	0.12313	0.25:0.0:0.5966:0.1534	.	293	Q16254	E2F4_HUMAN	S	293	ENSP00000368686:T293S	ENSP00000368686:T293S	T	+	1	0	0	E2F4	65787254	65787254	0.005000	0.15991	0.091000	0.20842	0.420000	0.31355	1.045000	0.30341	0.182000	0.20032	-0.146000	0.13790	ACA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_001950			53	51		321	316	1		1	1		0	0	62	0		1	1	0	47	0	166	0	53	321
E2F4	1874	broad.mit.edu	37	16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	323	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622																																						ENST00000379378.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(967-969)aGc>aTc		E2F transcription factor 4, p107/p130-binding							65.0	67.0	66.0					16																	67229844		2198	4300	6498	SO:0001583	missense	1874	0	0					g.chr16:67229844G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.968G>T	chr16.hg19:g.67229844G>T	ENSP00000368686:p.Ser323Ile	0						p.S323I	NM_001950.3	NP_001941.2	1	2	3	1.993938	Q16254	E2F4_HUMAN		7	1027	+		Ovarian(137;0.0563)	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	1	1	hg19	c.968G>T	CCDS32464.1	1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374558	0.11409	.	.	ENSG00000205250	ENST00000379378	D	0.82984	-1.67	3.78	-2.63	0.06133	3.78	-2.63	0.06133	.	1.239140	0.05425	N	0.544915	T	0.67449	0.2894	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.48317	-0.9046	10	0.18710	T	0.47	0.0374	4.3173	0.11000	0.4512:0.3471:0.2017:0.0	.	323	Q16254	E2F4_HUMAN	I	323	ENSP00000368686:S323I	ENSP00000368686:S323I	S	+	2	0	0	E2F4	65787345	65787345	0.006000	0.16342	0.228000	0.23943	0.012000	0.07955	-0.660000	0.05317	-0.452000	0.07087	-0.140000	0.14226	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	0		2	2	2	0		0	0	116		116	107	1	2.060000	-20.000000	1	0.170000	NM_001950			114	111		483	468	1		1	1		0	0	116	0		1	1	0	35	0	118	0	114	483
ELMO3	79767	broad.mit.edu	37	16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000360833.1	+	19	2312	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	716					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642																																						ENST00000360833.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(2254-2256)aGc>aAc		engulfment and cell motility 3							15.0	16.0	16.0					16																	67237764		1941	4123	6064	SO:0001583	missense	79767	0	0					g.chr16:67237764G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2255G>A	chr16.hg19:g.67237764G>A	ENSP00000354077:p.Ser752Asn	0					MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N	p.S752N			1	2	3	1.993938	Q96BJ8	ELMO3_HUMAN		19	2312	+		Ovarian(137;0.0563)	B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	1	1	hg19	c.2255G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885780	0.17540	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14766	2.48;2.48	5.32	4.34	0.51931	5.32	4.34	0.51931	.	0.124832	0.64402	D	0.000001	T	0.13243	0.0321	L	0.39020	1.185	0.49582	D	0.999802	B;P;P	0.39480	0.181;0.675;0.493	B;B;B	0.41988	0.033;0.372;0.234	T	0.10154	-1.0642	10	0.18710	T	0.47	-11.2324	13.1906	0.59709	0.0:0.3065:0.6935:0.0	.	716;752;769	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	752;769	ENSP00000354077:S752N;ENSP00000377566:S769N	ENSP00000354077:S752N	S	+	2	0	0	ELMO3	65795265	65795265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.302000	0.51849	1.221000	0.43506	0.563000	0.77884	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_024712			27	26		96	94	1		1	1		0	0	13	0		1	9.999982e-01	0	40	0	44	0	27	96
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					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)			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)		TCGTCTTTGGCGAGTCCCTGC	0.592																																						ENST00000299798.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(622-624)ggC>ggT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							116.0	117.0	117.0					16																	67289057		2181	4284	6465	SO:0001819	synonymous_variant	6553	1	121298	34				g.chr16:67289057C>T		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.624C>T	chr16.hg19:g.67289057C>T		0					SLC9A5_ENST00000561472.2_3'UTR	p.G208G	NM_004594.2	NP_004585.1	1	2	3	1.993938	Q14940	SL9A5_HUMAN		3	689	+		Ovarian(137;0.0563)	A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	1	1	hg19	c.624C>T	CCDS42178.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	0	0	1		17	2	2	1		1	1	101		101	101	1	2.060000	-3.111656	1	0.170000				96	93		425	415	1		1	0		1	0	101	0		1	0	0	0	0	1	0	96	425
SLC9A5	6553	broad.mit.edu	37	16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	514					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)			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)		GCTGCTGATGCGACGATCAGC	0.592																																						ENST00000299798.11	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1540-1542)Cga>Tga		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							60.0	66.0	64.0					16																	67292264		2071	4214	6285	SO:0001587	stop_gained	6553	0	0					g.chr16:67292264C>T		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.1540C>T	chr16.hg19:g.67292264C>T	ENSP00000299798:p.Arg514*	0					CTC-277H1.7_ENST00000573063.1_RNA	p.R514*	NM_004594.2	NP_004585.1	1	2	3	1.993938	Q14940	SL9A5_HUMAN		10	1605	+		Ovarian(137;0.0563)	A5PKY7|Q9Y626	Nonsense_Mutation	SNP	ENST00000299798.11	0	1	hg19	c.1540C>T	CCDS42178.1	1	.	.	.	.	.	.	.	.	.	.	c	36	5.912023	0.97099	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	5.24	4.28	0.50868	5.24	4.28	0.50868	.	0.105727	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.837	0.57780	0.4038:0.5962:0.0:0.0	.	.	.	.	X	514;2	.	ENSP00000299798:R514X	R	+	1	2	2	SLC9A5	65849765	65849765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.943000	0.29030	1.445000	0.47624	0.556000	0.70494	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.121771	1	0.170000				53	52		225	222	1		1	1		0	0	60	0		1	4.736883e-01	0	3	0	5	0	53	225
KCTD19	146212	broad.mit.edu	37	16	67333397	67333397	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	285					protein homooligomerization (GO:0051260)					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)		TTGTGTAGAGCGGTTTCACGG	0.632																																						ENST00000304372.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(853-855)ccG>ccA		potassium channel tetramerization domain containing 19							93.0	103.0	100.0					16																	67333397		2000	4157	6157	SO:0001819	synonymous_variant	146212	2	120886	36				g.chr16:67333397C>T	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.855G>A	chr16.hg19:g.67333397C>T		0					KCTD19_ENST00000562860.1_5'UTR	p.P285P	NM_001100915.1	NP_001094385.1	1	2	3	1.993938	Q17RG1	KCD19_HUMAN		6	910	-		Ovarian(137;0.192)	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	1	1	hg19	c.855G>A	CCDS42179.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	XM_085367			121	120		677	669	1		1			0	0	131	0		1	0	0	0	0	0	0	121	677
KCTD19	146212	broad.mit.edu	37	16	67360624	67360624	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67360624G>T	ENST00000304372.5	-	0	42				LRRC36_ENST00000329956.6_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19						protein homooligomerization (GO:0051260)					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)		CGCGGCTCCAGCAGCGGGCGG	0.756											OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000304372.5	1.000000	0.200000	8.100000e-01	3.300000e-01	0.520000	0.563176	0.520000	1.000000																										0				23								potassium channel tetramerization domain containing 19							7.0	9.0	8.0					16																	67360624		1788	4011	5799			146212	0	0					g.chr16:67360624G>T	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.-14C>A	chr16.hg19:g.67360624G>T		0		OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1098	LRRC36_ENST00000329956.6_5'Flank		NM_001100915.1	NP_001094385.1	1	2	3	1.993938	Q17RG1	KCD19_HUMAN		0	42	-		Ovarian(137;0.192)	B4DZ49|Q8N804	Translation_Start_Site	SNP	ENST00000304372.5	0	1	hg19		CCDS42179.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-8.331943	1	0.170000	XM_085367			5	5		118	116	0		1			0	0	10	0		9.361555e-01	0	0	0	0	0	0	5	118
TPPP3	51673	broad.mit.edu	37	16	67424128	67424128	+	Silent	SNP	G	G	A	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TPPP3_ENST00000393957.2_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	160					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622																																						ENST00000564104.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.986999	0.990000	1.000000																										0				7						c.(478-480)taC>taT		tubulin polymerization-promoting protein family member 3			,	0,4396		0,0,2198	113.0	88.0	97.0		480,480	-3.5	1.0	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	160/177,160/177	67424128	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	51673	4	121412	36				g.chr16:67424128G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.480C>T	chr16.hg19:g.67424128G>A		0					TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000393957.2_Silent_p.Y160Y|RNU1-123P_ENST00000458950.1_RNA	p.Y160Y			1	2	3	1.993938	Q9BW30	TPPP3_HUMAN		3	1321	-		Ovarian(137;0.0563)	Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	1	1	hg19	c.480C>T	CCDS10835.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-2.188460	0	0.170000	NM_015964			39	39		359	353	0		1	1		0	0	77	0		1	1	0	32	0	224	0	39	359
ZDHHC1	29800	broad.mit.edu	37	16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	TPPP3_ENST00000393957.2_5'Flank|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000290942.5_5'Flank|ZDHHC1_ENST00000566075.1_Intron	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	362					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637																																						ENST00000348579.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999665	0.990000	1.000000																										0				10						c.(1084-1086)Tgg>Ggg		zinc finger, DHHC-type containing 1							20.0	22.0	21.0					16																	67429051		2198	4300	6498	SO:0001583	missense	29800	0	0					g.chr16:67429051A>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1084T>G	chr16.hg19:g.67429051A>C	ENSP00000340299:p.Trp362Gly	0					TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	p.W362G	NM_013304.2	NP_037436.1	1	2	3	1.993938	Q8WTX9	ZDHC1_HUMAN		10	1425	-		Ovarian(137;0.223)	O15461	Missense_Mutation	SNP	ENST00000348579.2	1	1	hg19	c.1084T>G	CCDS10836.1	1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761202	0.15914	.	.	ENSG00000159714	ENST00000348579	T	0.36340	1.26	3.72	0.533	0.17121	3.72	0.533	0.17121	.	16.041100	0.00166	N	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.20519	T	0.43	.	3.3198	0.07047	0.2081:0.5612:0.0:0.2307	.	362	Q8WTX9	ZDHC1_HUMAN	G	362	ENSP00000340299:W362G	ENSP00000340299:W362G	W	-	1	0	0	ZDHHC1	65986552	65986552	0.000000	0.05858	0.048000	0.18961	0.081000	0.17604	-0.240000	0.08952	0.050000	0.15949	-0.302000	0.09304	TGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_013304			22	22		123	123	0		1	1		0	0	26	0		9.999993e-01	8.769030e-01	0	2	0	21	0	22	123
ZDHHC1	29800	broad.mit.edu	37	16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	248					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632																																						ENST00000348579.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				10						c.(742-744)Gcc>Acc		zinc finger, DHHC-type containing 1							31.0	37.0	35.0					16																	67432548		2197	4300	6497	SO:0001583	missense	29800	2	121196	28				g.chr16:67432548C>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.742G>A	chr16.hg19:g.67432548C>T	ENSP00000340299:p.Ala248Thr	0					ZDHHC1_ENST00000566075.1_5'Flank	p.A248T	NM_013304.2	NP_037436.1	1	2	3	1.993938	Q8WTX9	ZDHC1_HUMAN		7	1083	-		Ovarian(137;0.223)	O15461	Missense_Mutation	SNP	ENST00000348579.2	0	1	hg19	c.742G>A	CCDS10836.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822471	0.90873	.	.	ENSG00000159714	ENST00000348579	T	0.25085	1.82	5.41	4.46	0.54185	5.41	4.46	0.54185	.	0.417736	0.24318	N	0.039579	T	0.36496	0.0969	L	0.49455	1.56	0.29527	N	0.853069	D	0.69078	0.997	P	0.57468	0.821	T	0.19943	-1.0290	10	0.22109	T	0.4	.	13.0988	0.59208	0.0:0.9224:0.0:0.0776	.	248	Q8WTX9	ZDHC1_HUMAN	T	248	ENSP00000340299:A248T	ENSP00000340299:A248T	A	-	1	0	0	ZDHHC1	65990049	65990049	1.000000	0.71417	0.117000	0.21633	0.936000	0.57629	4.549000	0.60726	1.279000	0.44446	0.498000	0.49722	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_013304			21	21		76	75	1		1	0		0	0	10	0		9.999989e-01	9.999878e-01	0	0	0	76	0	21	76
ZDHHC1	29800	broad.mit.edu	37	16	67432784	67432784	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	198					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587																																						ENST00000348579.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.989483	0.990000	1.000000																										0				10						c.(592-594)acA>acG		zinc finger, DHHC-type containing 1							84.0	77.0	79.0					16																	67432784		2198	4300	6498	SO:0001819	synonymous_variant	29800	1	121376	22				g.chr16:67432784T>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.594A>G	chr16.hg19:g.67432784T>C		0					ZDHHC1_ENST00000566075.1_5'Flank	p.T198T	NM_013304.2	NP_037436.1	1	2	3	1.993938	Q8WTX9	ZDHC1_HUMAN		6	935	-		Ovarian(137;0.223)	O15461	Silent	SNP	ENST00000348579.2	1	1	hg19	c.594A>G	CCDS10836.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.997530	1	0.170000	NM_013304			14	14		102	100	1		1	1		0	0	26	0		9.997941e-01	9.803226e-01	0	15	0	36	0	14	102
ATP6V0D1	9114	broad.mit.edu	37	16	67472759	67472759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000290949.3	-	7	981	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	277					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)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602																																						ENST00000290949.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(829-831)ctC>ctT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							101.0	98.0	99.0					16																	67472759		2198	4300	6498	SO:0001819	synonymous_variant	9114	0	0					g.chr16:67472759G>A	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.831C>T	chr16.hg19:g.67472759G>A		0					ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L	p.L277L	NM_004691.4	NP_004682.2	1	2	3	1.993938	P61421	VA0D1_HUMAN		7	981	-		Ovarian(137;0.0563)	P12953|Q02547	Silent	SNP	ENST00000290949.3	1	0	hg19	c.831C>T	CCDS10838.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	0	0	1		2	2	2	0		0	0	182		182	180	1	2.060000	-20.000000	1	0.170000	NM_004691			155	154		671	659	1		1	1		0	0	182	0		1	1	0	104	0	413	0	155	671
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000379312.3	+	10	877	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Silent_p.V268V|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Silent_p.V262V|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000540839.3_Silent_p.V268V|FAM65A_ENST00000042381.4_Silent_p.V248V	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		GAAAGCAGGTGTGGGACAGTG	0.542																																						ENST00000379312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(754-756)gtG>gtA		family with sequence similarity 65, member A							248.0	219.0	229.0					16																	67574550		2198	4300	6498	SO:0001819	synonymous_variant	79567	0	0					g.chr16:67574550G>A	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.756G>A	chr16.hg19:g.67574550G>A		0					CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000540839.3_Silent_p.V268V|FAM65A_ENST00000428437.2_Silent_p.V262V	p.V252V	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	1	2	3	1.993938	Q6ZS17	FA65A_HUMAN		10	877	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	1	1	hg19	c.756G>A	CCDS54028.1	1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410593	0.25465	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.42	3.34	0.38264	5.42	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74405	-0.3676	6	0.51188	T	0.08	-9.3239	14.4179	0.67163	0.0:0.0:0.732:0.268	.	.	.	.	M	243	.	ENSP00000389456:V243M	V	+	1	0	0	FAM65A	66132051	66132051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	1.253000	0.44018	0.555000	0.69702	GTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_024519			120	118		572	557	1		1	0		0	0	151	0		1	1	0	0	0	136	0	120	572
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000379312.3	+	15	2856	c.2735G>A	c.(2734-2736)cGc>cAc	p.R912H	FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H	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																																						ENST00000379312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R908H(1)	large_intestine(1)	39						c.(2734-2736)cGc>cAc		family with sequence similarity 65, member A							90.0	82.0	85.0					16																	67578324		2198	4300	6498	SO:0001583	missense	79567	7	121406	40				g.chr16:67578324G>A	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	chr16.hg19:g.67578324G>A	ENSP00000368614:p.Arg912His	0					CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H	p.R912H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	1	2	3	1.993938	Q6ZS17	FA65A_HUMAN		15	2856	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	1	1	hg19	c.2735G>A	CCDS54028.1	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	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	0	FAM65A	66135825	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	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-20.000000	1	0.170000	NM_024519			130	128		561	552	1		1	1		0	0	123	0		1	1	0	2	0	116	0	130	561
FAM65A	79567	broad.mit.edu	37	16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000379312.3	+	16	2936	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*	FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R954*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	939						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		GCGGGAAGCCCGAGTACTGGA	0.652																																						ENST00000379312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2815-2817)Cga>Tga		family with sequence similarity 65, member A							47.0	56.0	53.0					16																	67578667		2198	4300	6498	SO:0001587	stop_gained	79567	0	0					g.chr16:67578667C>T	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.2815C>T	chr16.hg19:g.67578667C>T	ENSP00000368614:p.Arg939*	0					CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R954*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*	p.R939*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	1	2	3	1.993938	Q6ZS17	FA65A_HUMAN		16	2936	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	0	1	hg19	c.2815C>T	CCDS54028.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.616036|7.616036	0.98390|0.98390	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.65|5.65	3.66|3.66	0.41972|0.41972	5.65|5.65	3.66|3.66	0.41972|0.41972	.|.	.|0.283027	.|0.34245	.|N	.|0.004121	T|.	0.35393|.	0.0930|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.02654	.|T	.|1	-1.3622|-1.3622	14.7684|14.7684	0.69657|0.69657	0.2766:0.7234:0.0:0.0|0.2766:0.7234:0.0:0.0	.|.	.|.	.|.	.|.	L|X	928|939;935;955;949	.|.	.|ENSP00000042381:R935X	P|R	+|+	2|1	0|2	0|2	FAM65A|FAM65A	66136168|66136168	66136168|66136168	0.995000|0.995000	0.38212|0.38212	0.652000|0.652000	0.29579|0.29579	0.910000|0.910000	0.53928|0.53928	4.112000|4.112000	0.57845|0.57845	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	CCG|CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1		2	2	2	0		0	0	90		90	86	1	2.060000	-2.846722	1	0.170000	NM_024519			128	125		519	509	1		1	1		0	0	90	0		1	1	0	3	0	124	0	128	519
RAB40C	57799	broad.mit.edu	37	16	676048	676048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000248139.3	+	5	695	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000535977.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	164					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000248139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(490-492)atC>atT		RAB40C, member RAS oncogene family							111.0	95.0	101.0					16																	676048		2201	4300	6501	SO:0001819	synonymous_variant	57799	1	121408	33				g.chr16:676048C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.492C>T	chr16.hg19:g.676048C>T		0					RAB40C_ENST00000538492.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000535977.1_Silent_p.I164I	p.I164I	NM_021168.4	NP_066991.3	1	2	3	2.056757	Q96S21	RB40C_HUMAN		5	695	+		Hepatocellular(780;0.0218)	A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	1	1	hg19	c.492C>T	CCDS10413.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	1	0	1		17	2	2	0		0	1	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_021168			102	101		431	425	1		1	1		0	0	109	0		1	9.999999e-01	0	32	0	70	0	102	431
FAM65A	79567	broad.mit.edu	37	16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000379312.3	+	19	3495	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L	FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.S1140L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1125						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		CGGAGCCTGTCACTGGGCCCT	0.662																																						ENST00000379312.3	1.000000	0.820000	1	9.600000e-01	0.990000	0.982209	0.990000	1.000000																										0				39						c.(3373-3375)tCa>tTa		family with sequence similarity 65, member A							49.0	56.0	54.0					16																	67579738		2198	4300	6498	SO:0001583	missense	79567	0	0					g.chr16:67579738C>T	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.3374C>T	chr16.hg19:g.67579738C>T	ENSP00000368614:p.Ser1125Leu	0					CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000540839.3_Missense_Mutation_p.S1140L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L	p.S1125L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	1	2	3	1.993938	Q6ZS17	FA65A_HUMAN		19	3495	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	1	1	hg19	c.3374C>T	CCDS54028.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507564	0.85282	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.78003	-1.14;-1.14;-1.14	5.58	4.61	0.57282	5.58	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.518270	0.19794	N	0.105918	D	0.83464	0.5260	L	0.42245	1.32	0.33306	D	0.565508	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68039	0.955;0.955;0.955	D	0.88327	0.2966	10	0.87932	D	0	-5.5324	15.6803	0.77364	0.138:0.862:0.0:0.0	.	1135;1141;1125	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	L	1125;1121;1141;1135	ENSP00000368614:S1125L;ENSP00000042381:S1121L;ENSP00000400099:S1141L	ENSP00000042381:S1121L	S	+	2	0	0	FAM65A	66137239	66137239	0.913000	0.31002	1.000000	0.80357	0.940000	0.58332	2.813000	0.48002	1.319000	0.45190	0.655000	0.94253	TCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_024519			38	38		360	359	1		1	1		0	0	74	0		1	9.999714e-01	0	17	0	132	0	38	360
CTCF	10664	broad.mit.edu	37	16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	267					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)			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)		GAAGACATTCCAGTGTGAGCT	0.388																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4	1.000000	0.700000	1	8.300000e-01	0.980000	0.933718	0.980000	1.000000																										0				79						c.(799-801)Cag>Tag		CCCTC-binding factor (zinc finger protein)							131.0	113.0	119.0					16																	67645871		2198	4300	6498	SO:0001587	stop_gained	10664	0	0					g.chr16:67645871C>T	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.799C>T	chr16.hg19:g.67645871C>T	ENSP00000264010:p.Gln267*	0					CTCF_ENST00000401394.1_Intron|AC009095.4_ENST00000388909.4_RNA	p.Q267*	NM_006565.3	NP_006556.1	1	2	3	1.993938	P49711	CTCF_HUMAN		4	1243	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	0	1	hg19	c.799C>T	CCDS10841.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.867881	0.97897	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000264010:Q267X	Q	+	1	0	0	CTCF	66203372	66203372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-2.690405	1	0.170000	NM_006565			37	34		413	405	0		1	0		0	0	96	0		1	9.999168e-01	0	1	0	157	0	37	413
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					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)			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)		GAAGCAGCTTCTCGACATGCA	0.547																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1612-1614)Ctc>Atc		CCCTC-binding factor (zinc finger protein)							197.0	163.0	174.0					16																	67662366		2198	4300	6498	SO:0001583	missense	10664	0	0					g.chr16:67662366C>A	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.1612C>A	chr16.hg19:g.67662366C>A	ENSP00000264010:p.Leu538Ile	0					CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	p.L538I	NM_006565.3	NP_006556.1	1	2	3	1.993938	P49711	CTCF_HUMAN		9	2056	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	1	1	hg19	c.1612C>A	CCDS10841.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.306403	0.95629	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68624	-0.34;-0.34	5.72	5.72	0.89469	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	D	0.85805	0.5782	M	0.91561	3.22	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.67548	0.888;0.952	D	0.88196	0.2880	10	0.72032	D	0.01	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	I	538;210	ENSP00000264010:L538I;ENSP00000384707:L210I	ENSP00000264010:L538I	L	+	1	0	0	CTCF	66219867	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_006565			136	131		529	520	1		1	1		0	0	108	0		1	1	0	39	0	144	0	136	529
RLTPR	146206	broad.mit.edu	37	16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	191					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637																																						ENST00000334583.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				18						c.(571-573)cGc>cAc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							24.0	26.0	26.0					16																	67680837		1999	4176	6175	SO:0001583	missense	146206	2	120960	28				g.chr16:67680837G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.572G>A	chr16.hg19:g.67680837G>A	ENSP00000334958:p.Arg191His	0					RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	p.R191H	NM_001013838.1	NP_001013860.1	1	2	3	1.993938	Q6F5E8	LR16C_HUMAN		8	900	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	1	1	hg19	c.572G>A	CCDS45513.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531042	0.85706	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.059925	0.64402	D	0.000003	T	0.69151	0.3079	M	0.63843	1.955	0.44432	D	0.99735	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70346	-0.4897	10	0.51188	T	0.08	-21.1664	15.5787	0.76414	0.0:0.0:1.0:0.0	.	191;191	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	191	ENSP00000334958:R191H;ENSP00000441481:R191H	ENSP00000334958:R191H	R	+	2	0	0	RLTPR	66238338	66238338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.794000	0.62482	2.516000	0.84829	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.305793	1	0.170000	NM_001013838			29	29		142	141	1		1	0		0	0	32	0		1	3.488208e-01	0	0	0	7	0	29	142
RAB40C	57799	broad.mit.edu	37	16	677435	677435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000248139.3	+	6	862	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	220	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000248139.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(658-660)aGc>aAc		RAB40C, member RAS oncogene family							176.0	146.0	157.0					16																	677435		2201	4300	6501	SO:0001583	missense	57799	0	0					g.chr16:677435G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.659G>A	chr16.hg19:g.677435G>A	ENSP00000248139:p.Ser220Asn	0					RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N	p.S220N	NM_021168.4	NP_066991.3	1	2	3	2.056757	Q96S21	RB40C_HUMAN		6	862	+		Hepatocellular(780;0.0218)	A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	1	1	hg19	c.659G>A	CCDS10413.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.145907	0.94603	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.17	4.21	0.49690	5.17	4.21	0.49690	SOCS protein, C-terminal (4);	0.264812	0.41823	N	0.000801	T	0.57621	0.2066	M	0.62723	1.935	0.58432	D	0.999996	D;D	0.57571	0.98;0.98	P;P	0.62740	0.906;0.906	T	0.61227	-0.7105	10	0.87932	D	0	.	12.3215	0.54987	0.0817:0.0:0.9183:0.0	.	220;201	Q96S21;Q5PXE8	RB40C_HUMAN;.	N	220	ENSP00000438492:S220N;ENSP00000445050:S220N;ENSP00000438382:S220N;ENSP00000248139:S220N	ENSP00000248139:S220N	S	+	2	0	0	RAB40C	617436	617436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	1.169000	0.42739	0.561000	0.74099	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	1	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000	NM_021168			123	121		651	639	1		1	1		0	0	189	0		1	9.999974e-01	0	32	0	64	0	123	651
C16orf86	388284	broad.mit.edu	37	16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403458.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999906	0.990000	1.000000																										0				6						c.(571-573)cGg>cAg		chromosome 16 open reading frame 86							14.0	15.0	15.0					16																	67702121		2193	4292	6485	SO:0001583	missense	388284	0	0					g.chr16:67702121G>A		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.572G>A	chr16.hg19:g.67702121G>A	ENSP00000384117:p.Arg191Gln	0		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	p.R191Q	NM_001012984.2	NP_001013002.2	1	2	3	1.993938	Q6ZW13	CP086_HUMAN		4	727	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	1	1	hg19	c.572G>A	CCDS32468.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.328238	0.95733	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	.	.	.	.	T	0.64394	0.2594	L	0.29908	0.895	0.32848	D	0.506291	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	8	0.87932	D	0	-14.3871	18.1519	0.89677	0.0:0.0:1.0:0.0	.	191	Q6ZW13	CP086_HUMAN	Q	191	.	ENSP00000384117:R191Q	R	+	2	0	0	C16orf86	66259622	66259622	0.982000	0.34865	0.998000	0.56505	0.953000	0.61014	4.142000	0.58044	2.826000	0.97356	0.563000	0.77884	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_001012984			17	15		67	67	1		1	1		0	0	14	0		9.999785e-01	9.061105e-01	0	4	0	15	0	17	67
CENPT	80152	broad.mit.edu	37	16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	135	Flexible stalk domain. {ECO:0000250}.				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)			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)		TCGAGCTCAGGAAGTTGCAGC	0.567																																						ENST00000562787.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(403-405)Cct>Act		centromere protein T							18.0	22.0	21.0					16																	67865777		1934	4128	6062	SO:0001583	missense	80152	0	0					g.chr16:67865777G>T	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		ENST00000562787.1:c.403C>A	chr16.hg19:g.67865777G>T	ENSP00000457810:p.Pro135Thr	0					CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T	p.P135T	NM_025082.3	NP_079358.3	1	2	3	1.993938	Q96BT3	CENPT_HUMAN		8	951	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	1	1	hg19	c.403C>A	CCDS42182.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376729	0.82682	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	D;D;D	0.81659	-1.52;-1.52;-1.52	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.89431	0.6713	M	0.74881	2.28	0.42055	D	0.991135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89459	0.3735	10	0.62326	D	0.03	-20.6962	16.3795	0.83443	0.0:0.0:1.0:0.0	.	32;135;135	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	T	135;135;32	ENSP00000400140:P135T;ENSP00000219172:P135T;ENSP00000411594:P32T	ENSP00000219172:P135T	P	-	1	0	0	CENPT	66423278	66423278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_025082			28	27		91	89	1		1	1		0	0	13	0		1	9.999989e-01	0	29	0	51	0	28	91
EDC4	23644	broad.mit.edu	37	16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667																																						ENST00000358933.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2308-2310)gCt>gTt		enhancer of mRNA decapping 4							98.0	95.0	96.0					16																	67914671		2198	4300	6498	SO:0001583	missense	23644	0	0					g.chr16:67914671C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2309C>T	chr16.hg19:g.67914671C>T	ENSP00000351811:p.Ala770Val	0					CTC-479C5.10_ENST00000572067.1_lincRNA	p.A770V	NM_014329.4	NP_055144.3	1	2	3	1.993938	Q6P2E9	EDC4_HUMAN		18	2548	+		Ovarian(137;0.0563)	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	1	1	hg19	c.2309C>T	CCDS10849.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238363	0.95240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.100889	0.64402	D	0.000002	T	0.49423	0.1556	L	0.29908	0.895	0.48395	D	0.999648	D	0.56968	0.978	P	0.50825	0.651	T	0.36744	-0.9735	9	0.25751	T	0.34	-15.198	14.5219	0.67856	0.0:0.8534:0.1466:0.0	.	770	Q6P2E9	EDC4_HUMAN	V	770	.	ENSP00000351811:A770V	A	+	2	0	0	EDC4	66472172	66472172	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.921000	0.70028	2.560000	0.86352	0.591000	0.81541	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	1	0	1		2	2	2	0		0	0	178		178	177	1	2.060000	-2.790256	1	0.170000	NM_014329			192	191		760	738	1		1	1		0	0	178	0		1	9.893430e-01	0	6	0	24	0	192	760
PSMB10	5699	broad.mit.edu	37	16	67969889	67969889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					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)|cell morphogenesis (GO:0000902)|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)|humoral immune response (GO:0006959)|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)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GGCGCAGGATGCGAGTGACCG	0.657																																						ENST00000358514.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(358-360)cgC>cgT		proteasome (prosome, macropain) subunit, beta type, 10	Carfilzomib(DB08889)						20.0	24.0	23.0					16																	67969889		2190	4280	6470	SO:0001819	synonymous_variant	5699	0	0					g.chr16:67969889G>A	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.360C>T	chr16.hg19:g.67969889G>A		0					CTC-479C5.12_ENST00000573493.1_5'Flank	p.R120R	NM_002801.3	NP_002792.1	1	2	3	1.993938	P40306	PSB10_HUMAN		4	697	-		Ovarian(137;0.0563)	B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	1	1	hg19	c.360C>T	CCDS10853.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_002801			49	48		214	213	1		1	1		0	0	39	0		1	1	0	117	0	528	0	49	214
SLC12A4	6560	broad.mit.edu	37	16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000316341.3	-	17	2260	c.2120A>C	c.(2119-2121)aAg>aCg	p.K707T	CTC-479C5.17_ENST00000590594.1_lincRNA|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	707					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652																																						ENST00000316341.3	1.000000	0.550000	1	7.700000e-01	0.990000	0.915941	0.990000	1.000000																										0				29						c.(2119-2121)aAg>aCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						28.0	24.0	25.0					16																	67980961		2197	4300	6497	SO:0001583	missense	6560	0	0					g.chr16:67980961T>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2120A>C	chr16.hg19:g.67980961T>G	ENSP00000318557:p.Lys707Thr	0					SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T	p.K707T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	1	2	3	1.993938	Q9UP95	S12A4_HUMAN		17	2260	-		Ovarian(137;0.192)	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	1	1	hg19	c.2120A>C	CCDS10855.1	1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706646	0.89018	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.47078	1.49	0.80722	D	1	B;B;P;B;B;B	0.40553	0.09;0.172;0.721;0.138;0.138;0.172	B;B;P;B;B;B	0.45310	0.193;0.052;0.476;0.111;0.111;0.052	D	0.90615	0.4555	10	0.24483	T	0.36	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	709;707;676;701;707;707	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	709;676;701;707;707	ENSP00000395983:K709T;ENSP00000438334:K676T;ENSP00000445962:K701T;ENSP00000343374:K707T;ENSP00000318557:K707T	ENSP00000318557:K707T	K	-	2	0	0	SLC12A4	66538462	66538462	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.182000	0.58310	2.206000	0.71126	0.533000	0.62120	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-19.988170	1	0.170000	NM_005072			11	11		117	114	1		1	1		0	0	33	0		9.983715e-01	9.986969e-01	0	13	0	117	0	11	117
SLC12A4	6560	broad.mit.edu	37	16	67984390	67984390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000316341.3	-	12	1601	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000422611.2_Silent_p.G489G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000541864.2_Silent_p.G456G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	487					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627																																						ENST00000316341.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1459-1461)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						63.0	60.0	61.0					16																	67984390		2198	4300	6498	SO:0001819	synonymous_variant	6560	2	121408	38				g.chr16:67984390G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1461C>T	chr16.hg19:g.67984390G>A		0					SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000422611.2_Silent_p.G489G	p.G487G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	1	2	3	1.993938	Q9UP95	S12A4_HUMAN		12	1601	-		Ovarian(137;0.192)	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	1	1	hg19	c.1461C>T	CCDS10855.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.214024	1	0.170000	NM_005072			41	41		184	179	1		1	1		0	0	50	0		1	1	0	33	0	171	0	41	184
DPEP3	64180	broad.mit.edu	37	16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	316					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)			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)		CATCACGATGCCACCGTTCTT	0.567																																						ENST00000268793.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(1021-1023)gGc>gAc		dipeptidase 3							162.0	125.0	137.0					16																	68011244		2198	4300	6498	SO:0001583	missense	64180	1	121408	24				g.chr16:68011244C>T	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.1022G>A	chr16.hg19:g.68011244C>T	ENSP00000268793:p.Gly341Asp	0					DPEP3_ENST00000574342.1_5'Flank	p.G341D	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	1	2	3	1.993938	Q9H4B8	DPEP3_HUMAN		7	1395	-		Ovarian(137;0.192)	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	1	1	hg19	c.1022G>A	CCDS10856.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522503	0.85600	.	.	ENSG00000141096	ENST00000268793	T	0.58940	0.3	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88955	0.3389	10	0.87932	D	0	-0.1207	16.2186	0.82243	0.0:1.0:0.0:0.0	.	316	Q9H4B8	DPEP3_HUMAN	D	341	ENSP00000268793:G341D	ENSP00000268793:G341D	G	-	2	0	0	DPEP3	66568745	66568745	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.945000	0.70226	2.420000	0.82092	0.655000	0.94253	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_022357			32	32		129	127	1		1			0	0	34	0		1	0	0	0	0	0	0	32	129
DDX28	55794	broad.mit.edu	37	16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	389	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)			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)		TTCTGCTCTGTCACGATGCTT	0.493																																						ENST00000332395.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1165-1167)gAc>gGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							112.0	95.0	101.0					16																	68055940		2198	4300	6498	SO:0001583	missense	55794	0	0					g.chr16:68055940T>C	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.1166A>G	chr16.hg19:g.68055940T>C	ENSP00000332340:p.Asp389Gly	0					DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	p.D389G	NM_018380.3	NP_060850.2	1	2	3	1.993938	Q9NUL7	DDX28_HUMAN		1	1830	-		Ovarian(137;0.0563)		Missense_Mutation	SNP	ENST00000332395.5	1	1	hg19	c.1166A>G	CCDS10858.1	1	.	.	.	.	.	.	.	.	.	.	T	1.152	-0.646409	0.03531	.	.	ENSG00000182810	ENST00000332395	T	0.71103	-0.54	5.28	1.61	0.23674	5.28	1.61	0.23674	Helicase, C-terminal (1);	0.597438	0.18393	N	0.142606	T	0.44307	0.1287	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.33141	T	0.24	-10.4312	4.0144	0.09637	0.0:0.1847:0.1799:0.6354	.	389	Q9NUL7	DDX28_HUMAN	G	389	ENSP00000332340:D389G	ENSP00000332340:D389G	D	-	2	0	0	DDX28	66613441	66613441	0.000000	0.05858	0.054000	0.19295	0.004000	0.04260	0.787000	0.26858	0.535000	0.28714	-0.256000	0.11100	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_018380			77	72		333	329	1		1	1		0	0	80	0		1	9.999992e-01	0	33	0	57	0	77	333
NFATC3	4775	broad.mit.edu	37	16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000346183.3	+	2	247	c.223T>C	c.(223-225)Tca>Cca	p.S75P	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	75			S -> L (in dbSNP:rs2230092).		cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408																																						ENST00000346183.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(223-225)Tca>Cca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							217.0	194.0	202.0					16																	68156009		2198	4300	6498	SO:0001583	missense	4775	0	0					g.chr16:68156009T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.223T>C	chr16.hg19:g.68156009T>C	ENSP00000300659:p.Ser75Pro	0					RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P	p.S75P	NM_173165.2	NP_775188.1	1	2	3	1.993938	Q12968	NFAC3_HUMAN		2	247	+		Ovarian(137;0.0563)	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	1	1	hg19	c.223T>C	CCDS10860.1	1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127301	0.56721	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.61	0.57282	5.71	4.61	0.57282	.	0.646421	0.16210	N	0.224538	T	0.20210	0.0486	L	0.39898	1.24	0.36192	D	0.850152	P;P;P;P	0.51147	0.542;0.942;0.542;0.811	B;P;B;B	0.54401	0.288;0.751;0.288;0.288	T	0.10497	-1.0627	10	0.25106	T	0.35	0.3816	11.5118	0.50498	0.0:0.0709:0.0:0.9291	.	75;75;75;75	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	P	75	ENSP00000264008:S75P;ENSP00000300659:S75P;ENSP00000331324:S75P	ENSP00000331324:S75P	S	+	1	0	0	NFATC3	66713510	66713510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.259000	0.78381	1.101000	0.41535	0.456000	0.33151	TCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_004555			151	148		551	537	1		1	1		0	0	108	0		1	9.941782e-01	0	2	0	29	0	151	551
NFATC3	4775	broad.mit.edu	37	16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000346183.3	+	2	721	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	233	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552																																						ENST00000346183.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(697-699)Cac>Tac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							104.0	103.0	103.0					16																	68156483		2198	4300	6498	SO:0001583	missense	4775	0	0					g.chr16:68156483C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.697C>T	chr16.hg19:g.68156483C>T	ENSP00000300659:p.His233Tyr	0					RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y	p.H233Y	NM_173165.2	NP_775188.1	1	2	3	1.993938	Q12968	NFAC3_HUMAN		2	721	+		Ovarian(137;0.0563)	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	1	1	hg19	c.697C>T	CCDS10860.1	1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855006	0.17106	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08720	3.06;3.06;3.06	5.28	3.28	0.37604	5.28	3.28	0.37604	.	0.224215	0.46442	D	0.000294	T	0.08935	0.0221	L	0.46157	1.445	0.49051	D	0.999746	B;P;B;B	0.41313	0.437;0.745;0.437;0.437	B;B;B;B	0.40375	0.075;0.327;0.12;0.12	T	0.23583	-1.0184	9	.	.	.	-0.3688	10.0157	0.42014	0.1474:0.7807:0.0:0.0719	.	233;233;233;233	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	233	ENSP00000264008:H233Y;ENSP00000300659:H233Y;ENSP00000331324:H233Y	.	H	+	1	0	0	NFATC3	66713984	66713984	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	3.159000	0.50731	0.660000	0.30964	0.563000	0.77884	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_004555			57	56		294	287	1		1	1		0	0	94	0		1	9.959532e-01	0	9	0	37	0	57	294
ESRP2	80004	broad.mit.edu	37	16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000565858.1	-	15	2264	c.2178T>G	c.(2176-2178)tgT>tgG	p.C726W	RP11-96D1.10_ENST00000571975.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.C716W|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	726					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000565858.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2176-2178)tgT>tgG		epithelial splicing regulatory protein 2							98.0	97.0	97.0					16																	68264135		2198	4300	6498	SO:0001583	missense	80004	0	0					g.chr16:68264135A>C	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2178T>G	chr16.hg19:g.68264135A>C	ENSP00000454554:p.Cys726Trp	0		OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1105	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.C716W|RP11-96D1.10_ENST00000571975.1_RNA	p.C726W	NM_024939.2	NP_079215.2	1	2	3	1.993938	Q9H6T0	ESRP2_HUMAN		15	2264	-			Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	1	1	hg19	c.2178T>G		1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020819	0.54576	.	.	ENSG00000103067	ENST00000473183	T	0.19394	2.15	6.06	2.52	0.30459	6.06	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.12630	-1.0540	10	0.72032	D	0.01	-10.2521	9.6903	0.40125	0.7449:0.0:0.2551:0.0	.	726;716	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	716	ENSP00000418748:C716W	ENSP00000418748:C716W	C	-	3	2	2	ESRP2	66821636	66821636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.587000	0.46128	0.533000	0.28675	0.533000	0.62120	TGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_024939			75	73		357	349	1		1	1		0	0	83	0		1	9.999973e-01	0	31	0	59	0	75	357
ESRP2	80004	broad.mit.edu	37	16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000565858.1	-	14	2106	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	RP11-96D1.10_ENST00000571975.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A664T|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	674					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632																																						ENST00000565858.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2020-2022)Gcc>Acc		epithelial splicing regulatory protein 2							91.0	92.0	92.0					16																	68264366		2198	4300	6498	SO:0001583	missense	80004	1	121412	25				g.chr16:68264366C>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2020G>A	chr16.hg19:g.68264366C>T	ENSP00000454554:p.Ala674Thr	0					RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A664T|RP11-96D1.10_ENST00000571975.1_RNA	p.A674T	NM_024939.2	NP_079215.2	1	2	3	1.993938	Q9H6T0	ESRP2_HUMAN		14	2106	-			Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	1	1	hg19	c.2020G>A		1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694056	0.68386	.	.	ENSG00000103067	ENST00000473183	T	0.11277	2.79	5.93	4.98	0.66077	5.93	4.98	0.66077	.	0.101915	0.64402	D	0.000002	T	0.12390	0.0301	L	0.39397	1.21	0.80722	D	1	B;B	0.31599	0.33;0.184	B;B	0.37833	0.132;0.259	T	0.11717	-1.0576	10	0.15499	T	0.54	-11.6059	15.2254	0.73348	0.0:0.9327:0.0:0.0673	.	674;664	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	T	664	ENSP00000418748:A664T	ENSP00000418748:A664T	A	-	1	0	0	ESRP2	66821867	66821867	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.900000	0.63252	1.517000	0.48917	0.561000	0.74099	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_024939			98	93		438	426	1		1	1		0	0	88	0		1	9.999910e-01	0	31	0	44	0	98	438
PLA2G15	23659	broad.mit.edu	37	16	68293398	68293398	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000219345.5	+	6	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.G265G|PLA2G15_ENST00000444212.2_Silent_p.G159G|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	359					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587																																						ENST00000219345.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1075-1077)ggC>ggT		phospholipase A2, group XV							81.0	74.0	77.0					16																	68293398		2198	4300	6498	SO:0001819	synonymous_variant	23659	2	121412	37				g.chr16:68293398C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1077C>T	chr16.hg19:g.68293398C>T		0					RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Silent_p.G159G|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.G265G	p.G359G	NM_012320.3	NP_036452.1	1	2	3	1.993938	Q8NCC3	PAG15_HUMAN		6	1160	+			B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	1	1	hg19	c.1077C>T	CCDS10864.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_012320			63	61		312	311	1		1	1		0	0	67	0		1	1	0	18	0	131	0	63	312
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463																																						ENST00000339507.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(517-519)gCc>gTc		protein arginine methyltransferase 7							63.0	58.0	60.0					16																	68373238		2198	4300	6498	SO:0001583	missense	54496	0	0					g.chr16:68373238C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.518C>T	chr16.hg19:g.68373238C>T	ENSP00000343103:p.Ala173Val	0					PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V	p.A173V			1	2	3	1.993938	Q9NVM4	ANM7_HUMAN		8	1348	+		Ovarian(137;0.192)	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	1	1	hg19	c.518C>T	CCDS10866.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	0	PRMT7	66930739	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_019023			52	51		268	266	1		1	1		0	0	56	0		1	9.920144e-01	0	9	0	32	0	52	268
PRMT7	54496	broad.mit.edu	37	16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	531	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGCGGATCCGGAGCCCCTGT	0.617																																						ENST00000339507.5	1.000000	0.300000	6.800000e-01	4.000000e-01	0.510000	0.548685	0.510000	0.500000																										0				20						c.(1591-1593)cGg>cAg		protein arginine methyltransferase 7							83.0	71.0	75.0					16																	68387411		2198	4300	6498	SO:0001583	missense	54496	0	0					g.chr16:68387411G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1592G>A	chr16.hg19:g.68387411G>A	ENSP00000343103:p.Arg531Gln	0					PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q	p.R531Q			1	2	3	1.993938	Q9NVM4	ANM7_HUMAN		16	2422	+		Ovarian(137;0.192)	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	1	1	hg19	c.1592G>A	CCDS10866.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.897583	0.97081	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.83774	2.66	0.33124	D	0.542121	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.966;0.997;0.91	T	0.67090	-0.5758	10	0.54805	T	0.06	-30.2729	15.8933	0.79318	0.0:0.0:1.0:0.0	.	481;383;531	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	481;481;383;531	ENSP00000414716:R481Q;ENSP00000409324:R481Q;ENSP00000345775:R383Q;ENSP00000343103:R531Q	ENSP00000343103:R531Q	R	+	2	0	0	PRMT7	66944912	66944912	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.756000	0.91651	2.824000	0.97209	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-2.870347	1	0.170000	NM_019023			16	16		359	352	0		1	1		0	0	99	0		9.999268e-01	9.002105e-01	0	6	0	87	0	16	359
SMPD3	55512	broad.mit.edu	37	16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	439					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612																																						ENST00000219334.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				21						c.(1315-1317)Ttt>Ctt		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						46.0	49.0	48.0					16																	68404770		2198	4300	6498	SO:0001583	missense	55512	0	0					g.chr16:68404770A>G	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1315T>C	chr16.hg19:g.68404770A>G	ENSP00000219334:p.Phe439Leu	0					SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR	p.F439L	NM_018667.3	NP_061137.1	1	2	3	1.993938	Q9NY59	NSMA2_HUMAN		3	1918	-		Ovarian(137;0.0563)	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	1	1	hg19	c.1315T>C	CCDS10867.1	1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072488	0.36566	.	.	ENSG00000103056	ENST00000219334	T	0.27890	1.64	5.37	5.37	0.77165	5.37	5.37	0.77165	Endonuclease/exonuclease/phosphatase (2);	0.047576	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.47819	D	0.99952	B;B;B	0.21225	0.003;0.053;0.053	B;B;B	0.27715	0.007;0.082;0.082	T	0.05971	-1.0853	10	0.23891	T	0.37	-5.2878	13.319	0.60423	1.0:0.0:0.0:0.0	.	439;439;439	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	439	ENSP00000219334:F439L	ENSP00000219334:F439L	F	-	1	0	0	SMPD3	66962271	66962271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.036000	0.60181	0.533000	0.62120	TTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-17.641890	1	0.170000	NM_018667			25	25		96	96	1		1	1		0	0	22	0		9.999999e-01	9.187359e-01	0	9	0	10	0	25	96
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.A78A|SMPD3_ENST00000563226.1_Silent_p.A78A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672																																						ENST00000219334.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999224	0.990000	1.000000																										0				21						c.(232-234)gcG>gcA		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)	C		1,4391		0,1,2195	22.0	22.0	22.0		234	-10.6	0.0	16	dbSNP_134	22	0,8596		0,0,4298	no	coding-synonymous	SMPD3	NM_018667.3		0,1,6493	TT,TC,CC		0.0,0.0228,0.0077		78/656	68405851	1,12987	2196	4298	6494	SO:0001819	synonymous_variant	55512	15	121332	41				g.chr16:68405851C>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.234G>A	chr16.hg19:g.68405851C>T		0					SMPD3_ENST00000568373.1_Silent_p.A78A|SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000566009.1_5'Flank	p.A78A	NM_018667.3	NP_061137.1	1	2	3	1.993938	Q9NY59	NSMA2_HUMAN		3	837	-		Ovarian(137;0.0563)	B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	1	0	hg19	c.234G>A	CCDS10867.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_018667			18	17		100	98	1		1	1		0	0	18	0		9.999864e-01	8.058450e-01	0	6	0	13	0	18	100
CDH1	999	broad.mit.edu	37	16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	776					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Familial gastric carcinoma	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	16q22.1	999	Mis, N, F, S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""				E	E		gastric	lobular breast, gastric		0				311						c.(2326-2328)Ctg>Atg		cadherin 1, type 1, E-cadherin (epithelial)							74.0	63.0	67.0					16																	68863587		2198	4300	6498	SO:0001583	missense	999	0	0		Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	g.chr16:68863587C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2326C>A	chr16.hg19:g.68863587C>A	ENSP00000261769:p.Leu776Met	0					CDH1_ENST00000422392.2_Missense_Mutation_p.L715M|CDH1_ENST00000562836.1_3'UTR	p.L776M	NM_004360.3	NP_004351.1	1	2	3	1.993938	P12830	CADH1_HUMAN		15	2517	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	1	1	hg19	c.2326C>A	CCDS10869.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77358	-1.09;-1.09	5.94	5.94	0.96194	5.94	5.94	0.96194	Cadherin, cytoplasmic domain (1);	0.000000	0.40064	N	0.001183	D	0.88100	0.6346	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86591	0.1860	10	0.46703	T	0.11	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	715;776	Q9UII8;P12830	.;CADH1_HUMAN	M	776;794;715	ENSP00000261769:L776M;ENSP00000414946:L715M	ENSP00000261769:L776M	L	+	1	2	2	CDH1	67421088	67421088	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.855000	0.62925	2.826000	0.97356	0.561000	0.74099	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_004360			51	51		240	237	1		1	1		0	0	48	0		1	1	0	152	0	253	0	51	240
HAS3	3038	broad.mit.edu	37	16	69143880	69143880	+	Silent	SNP	C	C	T	rs200119038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000219322.3_Silent_p.R194R|HAS3_ENST00000569188.1_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	194					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627																																						ENST00000306560.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(580-582)cgC>cgT		hyaluronan synthase 3		C	,,	0,4396		0,0,2198	77.0	61.0	67.0		582,582,582	-3.4	1.0	16		67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	194/554,194/554,194/282	69143880	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3038	5	121402	40				g.chr16:69143880C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.582C>T	chr16.hg19:g.69143880C>T		0					HAS3_ENST00000569188.1_Silent_p.R194R|HAS3_ENST00000219322.3_Silent_p.R194R	p.R194R	NM_005329.2	NP_005320.2	1	2	3	1.993938	O00219	HYAS3_HUMAN		2	738	+		Ovarian(137;0.101)	A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	1	1	hg19	c.582C>T	CCDS10871.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_138612			45	44		160	156	1		1	1		0	0	31	0		1	2.170961e-01	0	4	0	0	0	45	160
HAS3	3038	broad.mit.edu	37	16	69148647	69148647	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.T380T	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	380					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547																																						ENST00000306560.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1138-1140)acC>acA		hyaluronan synthase 3							149.0	129.0	136.0					16																	69148647		2198	4300	6498	SO:0001819	synonymous_variant	3038	0	0					g.chr16:69148647C>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1140C>A	chr16.hg19:g.69148647C>A		0					HAS3_ENST00000569188.1_Silent_p.T380T|HAS3_ENST00000219322.3_Intron	p.T380T	NM_005329.2	NP_005320.2	1	2	3	1.993938	O00219	HYAS3_HUMAN		4	1296	+		Ovarian(137;0.101)	A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	1	1	hg19	c.1140C>A	CCDS10871.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.948388	1	0.170000	NM_138612			143	142		536	527	1		1	1		0	0	103	0		1	7.537011e-01	0	7	0	5	0	143	536
CIRH1A	84916	broad.mit.edu	37	16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000314423.7	+	15	2000	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A|CIRH1A_ENST00000563094.1_Missense_Mutation_p.D608A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	608					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000314423.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1822-1824)gAc>gCc		cirrhosis, autosomal recessive 1A (cirhin)							163.0	123.0	137.0					16																	69199419		2198	4300	6498	SO:0001583	missense	84916	0	0					g.chr16:69199419A>C	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.1823A>C	chr16.hg19:g.69199419A>C	ENSP00000327179:p.Asp608Ala	0					CIRH1A_ENST00000563094.1_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A	p.D608A			1	2	3	1.993938	Q969X6	CIR1A_HUMAN		15	2000	+			Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	1	1	hg19	c.1823A>C	CCDS10872.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218425	0.79464	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.58060	0.87;0.36	6.17	5.08	0.68730	6.17	5.08	0.68730	.	0.044316	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74881	2.28	0.58432	D	0.999995	D;D	0.89917	1.0;0.983	D;P	0.77004	0.989;0.808	T	0.73347	-0.4011	10	0.87932	D	0	.	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	608;608	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	608;493	ENSP00000327179:D608A;ENSP00000339164:D493A	ENSP00000327179:D608A	D	+	2	0	0	CIRH1A	67756920	67756920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.048000	0.89442	1.146000	0.42352	0.533000	0.62120	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	1	0	1		2	2	2	0		0	0	43		43	41	1	2.060000	-19.999010	1	0.170000	NM_032830			38	37		162	160	1		1	1		0	0	43	0		1	1	0	53	0	135	0	38	162
TERF2	7014	broad.mit.edu	37	16	69395344	69395344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	463					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)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1387-1389)gaG>gaA		telomeric repeat binding factor 2							214.0	187.0	196.0					16																	69395344		2198	4300	6498	SO:0001819	synonymous_variant	7014	0	0					g.chr16:69395344C>T		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.1389G>A	chr16.hg19:g.69395344C>T		0					TERF2_ENST00000603068.1_Silent_p.E421E	p.E463E	NM_005652.3	NP_005643.2	1	2	3	1.993938	Q15554	TERF2_HUMAN		8	1405	-		Ovarian(137;0.101)		Silent	SNP	ENST00000254942.3	1	1	hg19	c.1389G>A		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000				90	89		456	449	1		1	1		0	0	114	0		1	9.999970e-01	0	35	0	58	0	90	456
NFAT5	10725	broad.mit.edu	37	16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000354436.2	+	12	2446	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	710					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453																																						ENST00000354436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2128-2130)Cag>Tag		nuclear factor of activated T-cells 5, tonicity-responsive							103.0	98.0	100.0					16																	69725910		2198	4300	6498	SO:0001587	stop_gained	10725	0	0					g.chr16:69725910C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2128C>T	chr16.hg19:g.69725910C>T	ENSP00000346420:p.Gln710*	0					NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*	p.Q710*	NM_006599.3	NP_006590.1	1	2	3	1.993938	O94916	NFAT5_HUMAN		12	2446	+			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	0	1	hg19	c.2128C>T	CCDS10881.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.348624	0.98228	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.270197	0.42964	D	0.000628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.16	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	728;727;634;710;634	.	ENSP00000338806:Q634X	Q	+	1	0	0	NFAT5	68283411	68283411	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	3.648000	0.54410	2.894000	0.99253	0.655000	0.94253	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_138714			70	70		309	305	1		1	1		0	0	74	0		1	9.808199e-01	0	2	0	28	0	70	309
FAM195A	84331	broad.mit.edu	37	16	697444	697444	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R	WDR90_ENST00000549091.1_5'Flank|WDR90_ENST00000293879.4_5'Flank|AL022341.3_ENST00000455294.1_RNA	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632																																						ENST00000307650.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(208-210)cgT>cgG		family with sequence similarity 195, member A							84.0	75.0	78.0					16																	697444		2200	4300	6500	SO:0001819	synonymous_variant	84331	0	0					g.chr16:697444T>G	BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366			14142	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 14"""	C16orf14		12477932	Standard	NM_138418		Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.210T>G	chr16.hg19:g.697444T>G		0					WDR90_ENST00000293879.4_5'Flank|AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_5'Flank	p.R70R	NM_138418.2	NP_612427.2	1	2	3	2.056757	Q9BUT9	F195A_HUMAN		3	389	+			Q969E9|Q96KV8	Silent	SNP	ENST00000307650.4	1	1	hg19	c.210T>G	CCDS10415.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_138418			56	56		219	214	1		1	1		0	0	56	0		1	1	0	35	0	73	0	56	219
NFAT5	10725	broad.mit.edu	37	16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000354436.2	+	12	2465	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	716					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453																																						ENST00000354436.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2146-2148)aCt>aTt		nuclear factor of activated T-cells 5, tonicity-responsive							117.0	109.0	112.0					16																	69725929		2198	4300	6498	SO:0001583	missense	10725	0	0					g.chr16:69725929C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2147C>T	chr16.hg19:g.69725929C>T	ENSP00000346420:p.Thr716Ile	0					NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	p.T716I	NM_006599.3	NP_006590.1	1	2	3	1.993938	O94916	NFAT5_HUMAN		12	2465	+			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	1	1	hg19	c.2147C>T	CCDS10881.1	1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537703	0.45176	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.08	5.12	0.69794	6.08	5.12	0.69794	.	0.847763	0.11135	N	0.595942	T	0.31167	0.0788	N	0.14661	0.345	0.24227	N	0.995411	B;B;B	0.18166	0.016;0.016;0.026	B;B;B	0.17979	0.009;0.009;0.02	T	0.20907	-1.0261	10	0.32370	T	0.25	-1.521	16.105	0.81213	0.0:0.6288:0.3712:0.0	.	733;716;734	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	734;733;640;716;640	ENSP00000396538:T734I;ENSP00000338806:T640I;ENSP00000346420:T716I;ENSP00000377343:T640I	ENSP00000338806:T640I	T	+	2	0	0	NFAT5	68283430	68283430	0.050000	0.20438	0.968000	0.41197	0.967000	0.64934	1.052000	0.30429	1.556000	0.49512	0.655000	0.94253	ACT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_138714			66	65		303	300	1		1	1		0	0	78	0		1	9.857712e-01	0	11	0	22	0	66	303
WWP2	11060	broad.mit.edu	37	16	69922018	69922018	+	Silent	SNP	C	C	A	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	260					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)			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						CTGCTGCACCCTTGAGTGTGA	0.557																																						ENST00000359154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(778-780)ccC>ccA		WW domain containing E3 ubiquitin protein ligase 2							147.0	124.0	132.0					16																	69922018		2198	4300	6498	SO:0001819	synonymous_variant	11060	0	0					g.chr16:69922018C>A	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.780C>A	chr16.hg19:g.69922018C>A		0					WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR	p.P260P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	1	2	3	1.993938	O00308	WWP2_HUMAN		8	881	+			A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	1	1	hg19	c.780C>A	CCDS10885.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-3.116153	1	0.170000	NM_007014			106	102		491	471	1		1	1	1	0	0	111	547		1	1	1	51	129	101	561	106	491
WDR90	197335	broad.mit.edu	37	16	701862	701862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000293879.4	+	9	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_ENST00000549091.1_Silent_p.P292P|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682																																						ENST00000293879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(874-876)ccG>ccA		WD repeat domain 90							22.0	28.0	26.0					16																	701862		2097	4227	6324	SO:0001819	synonymous_variant	197335	0	0					g.chr16:701862G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.876G>A	chr16.hg19:g.701862G>A		0					AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Silent_p.P292P	p.P292P			1	2	3	2.056757	Q96KV7	WDR90_HUMAN		9	876	+		Hepatocellular(780;0.0218)	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	1	1	hg19	c.876G>A	CCDS42092.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_145294			43	41		204	202	1		1	0		0	0	44	0		1	4.878764e-01	0	1	0	8	0	43	204
WWP2	11060	broad.mit.edu	37	16	69971090	69971090	+	Silent	SNP	C	C	T	rs144693307	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	729	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			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						ATGGCTTCAACGAGGTGGCCC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18767	0.0		0.0	False		,,,				2504	0.0					ENST00000359154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2185-2187)aaC>aaT		WW domain containing E3 ubiquitin protein ligase 2		C	,	0,4396		0,0,2198	78.0	73.0	75.0		2187,870	-9.8	0.5	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	729/871,290/432	69971090	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	11060	3	121412	36				g.chr16:69971090C>T	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.2187C>T	chr16.hg19:g.69971090C>T		0					WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	p.N729N	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	1	2	3	1.993938	O00308	WWP2_HUMAN		20	2288	+			A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	1	1	hg19	c.2187C>T	CCDS10885.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	1	0	1		2	2	6	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_007014			57	57		243	238	1		1	1	1	0	1	64	1291		1	1	1	36	234	109	1156	57	243
PDPR	55066	broad.mit.edu	37	16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	757					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542																																						ENST00000288050.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999893	0.990000	1.000000																										0				33						c.(2269-2271)Cag>Tag		pyruvate dehydrogenase phosphatase regulatory subunit							138.0	153.0	148.0					16																	70190411		2079	4225	6304	SO:0001587	stop_gained	55066	1	121054	28				g.chr16:70190411C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2269C>T	chr16.hg19:g.70190411C>T	ENSP00000288050:p.Gln757*	0					RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*	p.Q757*	NM_017990.3	NP_060460.4	1	2	3	1.993938	Q8NCN5	PDPR_HUMAN		19	3226	+			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Nonsense_Mutation	SNP	ENST00000288050.4	0	1	hg19	c.2269C>T	CCDS45520.1	1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569369	0.28003	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	.	.	.	6.03	5.05	0.67936	6.03	5.05	0.67936	.	0.464135	0.24764	N	0.035792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8745	0.41195	0.2471:0.6157:0.1372:0.0	.	.	.	.	X	757;657;424;102	.	ENSP00000205055:Q424X	Q	+	1	0	0	PDPR	68747912	68747912	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.617000	0.36943	2.868000	0.98415	0.557000	0.71058	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_017990			76	74		581	574	0		1	1		0	0	134	0		1	9.416183e-01	0	2	0	36	0	76	581
FUK	197258	broad.mit.edu	37	16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000288078.6	+	8	828	c.596A>G	c.(595-597)gAc>gGc	p.D199G	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.D231G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	199						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597																																						ENST00000288078.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(595-597)gAc>gGc		fucokinase							84.0	86.0	85.0					16																	70501802		2057	4212	6269	SO:0001583	missense	197258	0	0					g.chr16:70501802A>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.596A>G	chr16.hg19:g.70501802A>G	ENSP00000288078:p.Asp199Gly	0					FUK_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000571514.1_Intron	p.D199G	NM_145059.2	NP_659496.2	1	2	3	1.993938	Q8N0W3	FUK_HUMAN		8	828	+		Ovarian(137;0.0694)	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	1	1	hg19	c.596A>G	CCDS10891.2	1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797143	0.70567	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.32988	1.43;1.43	5.17	5.17	0.71159	5.17	5.17	0.71159	L-fucokinase (1);	0.123047	0.52532	D	0.000076	T	0.53658	0.1810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	T	0.53940	-0.8367	10	0.44086	T	0.13	-23.5079	14.3028	0.66364	1.0:0.0:0.0:0.0	.	231;199	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	G	199;231	ENSP00000288078:D199G;ENSP00000368192:D231G	ENSP00000288078:D199G	D	+	2	0	0	FUK	69059303	69059303	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.373000	0.73128	2.102000	0.63906	0.459000	0.35465	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_145059			68	68		242	240	1		1	1		0	0	54	0		1	9.657492e-01	0	4	0	18	0	68	242
WDR90	197335	broad.mit.edu	37	16	705640	705640	+	Missense_Mutation	SNP	C	C	A	rs368151213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000293879.4	+	16	1786	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.R596S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	596										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGCATGCCCGCCGCCTGCT	0.682																																						ENST00000293879.4	1.000000	0.600000	1	8.600000e-01	0.990000	0.949729	0.990000	1.000000																										0				37						c.(1786-1788)Cgc>Agc		WD repeat domain 90							17.0	21.0	20.0					16																	705640		2169	4262	6431	SO:0001583	missense	197335	0	0					g.chr16:705640C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1786C>A	chr16.hg19:g.705640C>A	ENSP00000293879:p.Arg596Ser	0					WDR90_ENST00000549091.1_Missense_Mutation_p.R596S|LA16c-349E10.1_ENST00000573609.1_RNA	p.R596S			1	2	3	2.056757	Q96KV7	WDR90_HUMAN		16	1786	+		Hepatocellular(780;0.0218)	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	0	1	hg19	c.1786C>A	CCDS42092.1	1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541312	0.45280	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.33438	1.44;1.41	4.67	4.67	0.58626	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000002	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.70227	0.923;0.919;0.921;0.968	T	0.46005	-0.9222	10	0.23302	T	0.38	.	11.7813	0.52016	0.1755:0.8245:0.0:0.0	.	596;596;597;596	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	S	596	ENSP00000448122:R596S;ENSP00000293879:R596S	ENSP00000293879:R596S	R	+	1	0	0	WDR90	645641	645641	0.988000	0.35896	0.302000	0.25058	0.141000	0.21300	2.803000	0.47924	2.157000	0.67596	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-14.707820	1	0.170000	NM_145294			9	9		86	85	0		1	0		0	0	10	0		9.947144e-01	1.619701e-01	0	0	0	7	0	9	86
COG4	25839	broad.mit.edu	37	16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	rs146268306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	365					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.R369H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19193	0.0		0.001	False		,,,				2504	0.0					ENST00000323786.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R369H(1)	large_intestine(1)	33						c.(1105-1107)cGc>cAc		component of oligomeric golgi complex 4							103.0	88.0	93.0					16																	70534950		2198	4300	6498	SO:0001583	missense	25839	12	121412	42				g.chr16:70534950C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1106G>A	chr16.hg19:g.70534950C>T	ENSP00000315775:p.Arg369His	0						p.R369H	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	1	2	3	1.993938	Q9H9E3	COG4_HUMAN		9	1127	-		Ovarian(137;0.0694)	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	1	1	hg19	c.1106G>A	CCDS10892.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.541253	0.96474	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.55930	0.49	5.84	5.84	0.93424	5.84	5.84	0.93424	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81497	2.545	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	0.78066	-0.2349	10	0.87932	D	0	-10.7016	20.1551	0.98106	0.0:1.0:0.0:0.0	.	275;364;365	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	H	369;365;27	ENSP00000315775:R369H	ENSP00000315775:R369H	R	-	2	0	0	COG4	69092451	69092451	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.427000	0.80284	2.760000	0.94817	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-4.153358	1	0.170000				50	49		242	238	1		1	1		0	0	79	0		1	9.999992e-01	0	12	0	93	0	50	242
SF3B3	23450	broad.mit.edu	37	16	70589013	70589013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	538					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)			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)				AGTGGAAGACCCCTGGAAAGA	0.458																																						ENST00000302516.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1612-1614)acC>acT		splicing factor 3b, subunit 3, 130kDa							194.0	185.0	188.0					16																	70589013		2198	4300	6498	SO:0001819	synonymous_variant	23450	1	121412	30				g.chr16:70589013C>T	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.1614C>T	chr16.hg19:g.70589013C>T		0						p.T538T	NM_012426.4	NP_036558.3	1	2	3	1.993938	Q15393	SF3B3_HUMAN		13	1825	+		Ovarian(137;0.0694)	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	1	1	hg19	c.1614C>T	CCDS10894.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-3.228294	1	0.170000	NM_012426			68	67		362	354	1		1	1		0	0	103	0		1	1	0	58	0	134	0	68	362
SF3B3	23450	broad.mit.edu	37	16	70589061	70589061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	554					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)			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)				AGCGACAAGTGGTGATTGCCC	0.468																																						ENST00000302516.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1660-1662)gtG>gtA		splicing factor 3b, subunit 3, 130kDa							279.0	264.0	269.0					16																	70589061		2198	4300	6498	SO:0001819	synonymous_variant	23450	0	0					g.chr16:70589061G>A	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.1662G>A	chr16.hg19:g.70589061G>A		0						p.V554V	NM_012426.4	NP_036558.3	1	2	3	1.993938	Q15393	SF3B3_HUMAN		13	1873	+		Ovarian(137;0.0694)	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	1	1	hg19	c.1662G>A	CCDS10894.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	0		2	2	2	0		0	0	146		146	145	1	2.060000	-3.098995	1	0.170000	NM_012426			120	119		503	491	1		1	1		0	0	146	0		1	1	0	75	0	201	0	120	503
SF3B3	23450	broad.mit.edu	37	16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	557					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)			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)				AGTGGTGATTGCCCTGACAGG	0.473																																						ENST00000302516.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1669-1671)Gcc>Acc		splicing factor 3b, subunit 3, 130kDa							287.0	271.0	277.0					16																	70589068		2198	4300	6498	SO:0001583	missense	23450	0	0					g.chr16:70589068G>A	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.1669G>A	chr16.hg19:g.70589068G>A	ENSP00000305790:p.Ala557Thr	0						p.A557T	NM_012426.4	NP_036558.3	1	2	3	1.993938	Q15393	SF3B3_HUMAN		13	1880	+		Ovarian(137;0.0694)	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	1	1	hg19	c.1669G>A	CCDS10894.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890067	0.91889	.	.	ENSG00000189091	ENST00000302516	T	0.19105	2.17	5.73	5.73	0.89815	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79258	2.445	0.80722	D	1	P	0.45011	0.848	P	0.47941	0.562	T	0.23797	-1.0178	10	0.59425	D	0.04	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	557	Q15393	SF3B3_HUMAN	T	557	ENSP00000305790:A557T	ENSP00000305790:A557T	A	+	1	0	0	SF3B3	69146569	69146569	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.835000	0.99442	2.720000	0.93068	0.591000	0.81541	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	0		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_012426			98	97		531	520	1		1	1		0	0	147	0		1	1	0	82	0	189	0	98	531
SF3B3	23450	broad.mit.edu	37	16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1113					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)			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)				GATCCCTGGAGGCTCAGAATC	0.532																																						ENST00000302516.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.991570	0.990000	1.000000																										0				53						c.(3337-3339)Ggc>Tgc		splicing factor 3b, subunit 3, 130kDa							185.0	129.0	148.0					16																	70603981		2198	4300	6498	SO:0001583	missense	23450	0	0					g.chr16:70603981G>T	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.3337G>T	chr16.hg19:g.70603981G>T	ENSP00000305790:p.Gly1113Cys	0						p.G1113C	NM_012426.4	NP_036558.3	1	2	3	1.993938	Q15393	SF3B3_HUMAN		24	3548	+		Ovarian(137;0.0694)	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	1	1	hg19	c.3337G>T	CCDS10894.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407359	0.83230	.	.	ENSG00000189091	ENST00000302516	T	0.48201	0.82	5.66	5.66	0.87406	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83781	0.0225	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1113	Q15393	SF3B3_HUMAN	C	1113	ENSP00000305790:G1113C	ENSP00000305790:G1113C	G	+	1	0	0	SF3B3	69161482	69161482	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-12.911680	1	0.170000	NM_012426			33	33		284	277	1		1	1		0	0	51	0		1	1	0	46	0	293	0	33	284
SF3B3	23450	broad.mit.edu	37	16	70605707	70605707	+	Silent	SNP	C	C	T	rs376546377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1215					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)			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)				GGACCCGCTACGCCTTCTGAG	0.552																																						ENST00000302516.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3643-3645)taC>taT		splicing factor 3b, subunit 3, 130kDa		C		0,4396		0,0,2198	89.0	77.0	81.0		3645	-2.0	1.0	16		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SF3B3	NM_012426.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		1215/1218	70605707	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23450	7	121412	40				g.chr16:70605707C>T	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.3645C>T	chr16.hg19:g.70605707C>T		0						p.Y1215Y	NM_012426.4	NP_036558.3	1	2	3	1.993938	Q15393	SF3B3_HUMAN		26	3856	+		Ovarian(137;0.0694)	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	1	1	hg19	c.3645C>T	CCDS10894.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	0	0	1		15	17	2	1		1	1	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_012426			59	54		272	268	1		1	1		1	0	80	0		1	1	0	104	0	296	0	59	272
MTSS1L	92154	broad.mit.edu	37	16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	496					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672																																						ENST00000338779.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				7						c.(1486-1488)tgC>tgA		metastasis suppressor 1-like							23.0	22.0	22.0					16																	70698336		2196	4298	6494	SO:0001587	stop_gained	92154	0	0					g.chr16:70698336G>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1488C>A	chr16.hg19:g.70698336G>T	ENSP00000341171:p.Cys496*	0					FLJ00418_ENST00000597002.1_5'UTR	p.C496*	NM_138383.2	NP_612392.1	1	2	3	1.993938	Q765P7	MTSSL_HUMAN		15	1762	-			A6NJI7|Q9BUA8	Nonsense_Mutation	SNP	ENST00000338779.6	0	1	hg19	c.1488C>A	CCDS32476.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.245377	0.98161	.	.	ENSG00000132613	ENST00000338779	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-33.5027	11.2412	0.48970	0.0861:0.0:0.9139:0.0	.	.	.	.	X	496	.	ENSP00000341171:C496X	C	-	3	2	2	MTSS1L	69255837	69255837	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.019000	0.49635	2.245000	0.73994	0.462000	0.41574	TGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000	NM_138383			20	20		76	75	1		1	1		0	0	12	0		9.999977e-01	9.971541e-01	0	2	0	38	0	20	76
MTSS1L	92154	broad.mit.edu	37	16	70714875	70714875	+	Silent	SNP	G	G	A	rs561940484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	41	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647																																						ENST00000338779.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				7						c.(121-123)tcC>tcT		metastasis suppressor 1-like							55.0	58.0	57.0					16																	70714875		2195	4297	6492	SO:0001819	synonymous_variant	92154	0	0					g.chr16:70714875G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.123C>T	chr16.hg19:g.70714875G>A		0						p.S41S	NM_138383.2	NP_612392.1	1	2	3	1.993938	Q765P7	MTSSL_HUMAN		2	397	-			A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	1	1	hg19	c.123C>T	CCDS32476.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_138383			17	17		53	52	1		1	1		0	0	16	0		9.999837e-01	9.962995e-01	0	2	0	31	0	17	53
VAC14	55697	broad.mit.edu	37	16	70778369	70778369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	495					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)			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)				TGGGCACCTGGAGCTCTGAGT	0.642																																						ENST00000261776.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1483-1485)ctC>ctA		Vac14 homolog (S. cerevisiae)							39.0	42.0	41.0					16																	70778369		2198	4300	6498	SO:0001819	synonymous_variant	55697	0	0					g.chr16:70778369G>T	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.1485C>A	chr16.hg19:g.70778369G>T		0					RP11-394B2.6_ENST00000567186.1_RNA	p.L495L	NM_018052.3	NP_060522.3	1	2	3	1.993938	Q08AM6	VAC14_HUMAN		13	1745	-		Ovarian(137;0.0699)	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	1	1	hg19	c.1485C>A	CCDS10896.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1		2	2	2	0		0	0	56		56	52	1	2.060000	-3.427957	1	0.170000	NM_018052			67	65		299	293	1		1	1		0	0	56	0		1	1	0	25	0	127	0	67	299
VAC14	55697	broad.mit.edu	37	16	70815788	70815788	+	Silent	SNP	G	G	A	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	310					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)			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)				TGCGGTCATCGTAGGCCAAGC	0.572																																						ENST00000261776.5	1.000000	0.840000	1	9.900000e-01	0.990000	0.987803	0.990000	1.000000																										0				33						c.(928-930)taC>taT		Vac14 homolog (S. cerevisiae)		G		0,4396		0,0,2198	55.0	53.0	54.0		930	-3.4	0.9	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	VAC14	NM_018052.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		310/783	70815788	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	55697	22	121412	45				g.chr16:70815788G>A	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.930C>T	chr16.hg19:g.70815788G>A		0						p.Y310Y	NM_018052.3	NP_060522.3	1	2	3	1.993938	Q08AM6	VAC14_HUMAN		8	1190	-		Ovarian(137;0.0699)	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	1	1	hg19	c.930C>T	CCDS10896.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-8.191019	1	0.170000	NM_018052			29	29		254	253	1		1	1		0	0	55	0		1	9.998548e-01	0	16	0	106	0	29	254
VAC14	55697	broad.mit.edu	37	16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	156					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)			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)				CGGTCTAGGAGCTCAGATCCG	0.498																																						ENST00000261776.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(466-468)Ctc>Ttc		Vac14 homolog (S. cerevisiae)							118.0	126.0	123.0					16																	70818699		2198	4300	6498	SO:0001583	missense	55697	0	0					g.chr16:70818699G>A	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.466C>T	chr16.hg19:g.70818699G>A	ENSP00000261776:p.Leu156Phe	0						p.L156F	NM_018052.3	NP_060522.3	1	2	3	1.993938	Q08AM6	VAC14_HUMAN		4	726	-		Ovarian(137;0.0699)	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	1	1	hg19	c.466C>T	CCDS10896.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540889	0.85917	.	.	ENSG00000103043	ENST00000261776	D	0.97665	-4.48	5.38	5.38	0.77491	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97880	1.0291	10	0.59425	D	0.04	-28.1775	12.4816	0.55847	0.0762:0.0:0.9237:0.0	.	156	Q08AM6	VAC14_HUMAN	F	156	ENSP00000261776:L156F	ENSP00000261776:L156F	L	-	1	0	0	VAC14	69376200	69376200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.850000	0.69473	2.531000	0.85337	0.563000	0.77884	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_018052			143	139		659	644	1		1	1		0	0	129	0		1	1	0	33	0	76	0	143	659
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000293879.4	+	23	2822	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.R941H			Q96KV7	WDR90_HUMAN	WD repeat domain 90	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662																																						ENST00000293879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2821-2823)cGc>cAc		WD repeat domain 90							42.0	50.0	47.0					16																	708580		2079	4190	6269	SO:0001583	missense	197335	1	120852	27				g.chr16:708580G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2822G>A	chr16.hg19:g.708580G>A	ENSP00000293879:p.Arg941His	0					WDR90_ENST00000549091.1_Missense_Mutation_p.R941H|LA16c-349E10.1_ENST00000573609.1_RNA	p.R941H			1	2	3	2.056757	Q96KV7	WDR90_HUMAN		23	2822	+		Hepatocellular(780;0.0218)	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	1	1	hg19	c.2822G>A	CCDS42092.1	1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785589	0.16189	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.53423	0.62;3.51	5.12	-2.04	0.07343	5.12	-2.04	0.07343	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.080706	0.50627	U	0.000119	T	0.32315	0.0825	L	0.50847	1.595	0.09310	N	1	B;B	0.27971	0.066;0.196	B;B	0.18561	0.011;0.022	T	0.15178	-1.0446	10	0.31617	T	0.26	.	7.9236	0.29861	0.3941:0.1034:0.5026:0.0	.	941;941	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	941	ENSP00000448122:R941H;ENSP00000293879:R941H	ENSP00000293879:R941H	R	+	2	0	0	WDR90	648581	648581	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.987000	0.29603	-0.231000	0.09825	-0.140000	0.14226	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	0	0		2	3	2	1		1	0	52		52	51	1	2.060000	-4.508702	1	0.170000	NM_145294			109	109		362	358	1		1	1		1	0	52	0		1	7.094495e-01	0	3	0	12	0	109	362
WDR90	197335	broad.mit.edu	37	16	708595	708595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000293879.4	+	23	2837	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.A946D			Q96KV7	WDR90_HUMAN	WD repeat domain 90	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672																																						ENST00000293879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2836-2838)gCc>gAc		WD repeat domain 90							38.0	44.0	42.0					16																	708595		2058	4171	6229	SO:0001583	missense	197335	0	0					g.chr16:708595C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2837C>A	chr16.hg19:g.708595C>A	ENSP00000293879:p.Ala946Asp	0					WDR90_ENST00000549091.1_Missense_Mutation_p.A946D|LA16c-349E10.1_ENST00000573609.1_RNA	p.A946D			1	2	3	2.056757	Q96KV7	WDR90_HUMAN		23	2837	+		Hepatocellular(780;0.0218)	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	1	1	hg19	c.2837C>A	CCDS42092.1	1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299650	0.60195	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.56444	0.46;3.32	5.42	4.47	0.54385	5.42	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75686	0.3883	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.80754	-0.1241	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.9232:0.0:0.0768	.	946;946	F8VUX9;Q96KV7	.;WDR90_HUMAN	D	946	ENSP00000448122:A946D;ENSP00000293879:A946D	ENSP00000293879:A946D	A	+	2	0	0	WDR90	648596	648596	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	6.960000	0.76036	1.294000	0.44707	-0.136000	0.14681	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-4.396591	1	0.170000	NM_145294			101	101		338	335	1		1	1		0	0	50	0		1	9.096807e-01	0	2	0	14	0	101	338
HYDIN	54768	broad.mit.edu	37	16	70841708	70841708	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5047					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)				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)				TCACCATGTGATAGAAGACAT	0.532																																						ENST00000393567.2	1.000000	0.300000	6.700000e-01	3.900000e-01	0.510000	0.546075	0.510000	0.500000																										0				43						c.(15139-15141)taT>taC		HYDIN, axonemal central pair apparatus protein							122.0	124.0	123.0					16																	70841708		2036	4203	6239	SO:0001819	synonymous_variant	54768	0	0					g.chr16:70841708A>G	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.15141T>C	chr16.hg19:g.70841708A>G		0						p.Y5047Y	NM_001270974.1	NP_001257903.1	1	2	3	1.993938	Q4G0P3	HYDIN_HUMAN		86	15291	-		Ovarian(137;0.0654)	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	1	1	hg19	c.15141T>C	CCDS59269.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-4.144614	1	0.170000				16	16		361	358	0		1	0		0	0	74	0		9.999329e-01	0	0	0	0	1	0	16	361
HYDIN	54768	broad.mit.edu	37	16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2576					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)				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)				CAAGCCTTCAAAGTCTGGTGT	0.592																																						ENST00000393567.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				43						c.(7726-7728)tTt>tCt		HYDIN, axonemal central pair apparatus protein							41.0	43.0	42.0					16																	70954552		2006	4177	6183	SO:0001583	missense	54768	0	0					g.chr16:70954552A>G	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.7727T>C	chr16.hg19:g.70954552A>G	ENSP00000377197:p.Phe2576Ser	0						p.F2576S	NM_001270974.1	NP_001257903.1	1	2	3	1.993938	Q4G0P3	HYDIN_HUMAN		46	7877	-		Ovarian(137;0.0654)	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	1	1	hg19	c.7727T>C	CCDS59269.1	1	.	.	.	.	.	.	.	.	.	.	A	8.662	0.900781	0.17686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.89	-4.2	0.03823	5.89	-4.2	0.03823	.	1.438640	0.05358	N	0.533179	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48293	-0.9048	10	0.08599	T	0.76	.	10.6572	0.45682	0.2027:0.1429:0.6544:0.0	.	2575	F8WD23	.	S	2576;2575	ENSP00000377197:F2576S	ENSP00000313052:F2575S	F	-	2	0	0	HYDIN	69512053	69512053	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.702000	0.25631	-0.698000	0.05085	-0.315000	0.08773	TTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000				23	21		110	106	1		1	0		0	0	16	0		9.999995e-01	0	0	0	0	1	0	23	110
ZNF19	7567	broad.mit.edu	37	16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000288177.5	-	6	593	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGACATCATCCCATCTCTTTC	0.428																																						ENST00000288177.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				22						c.(337-339)gGg>gTg		zinc finger protein 19							113.0	101.0	105.0					16																	71510112		2198	4300	6498	SO:0001583	missense	7567	0	0					g.chr16:71510112C>A	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.338G>T	chr16.hg19:g.71510112C>A	ENSP00000288177:p.Gly113Val	0					ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V	p.G113V	NM_006961.3	NP_008892.2	1	2	3	1.993938	P17023	ZNF19_HUMAN		6	593	-		Ovarian(137;0.00965)	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	1	1	hg19	c.338G>T	CCDS10901.1	1	.	.	.	.	.	.	.	.	.	.	C	5.104	0.204858	0.09704	.	.	ENSG00000157429	ENST00000288177	T	0.05258	3.47	3.0	-2.25	0.06888	3.0	-2.25	0.06888	.	2.866660	0.01468	N	0.016151	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.27785	T	0.31	.	6.4821	0.22069	0.3951:0.5005:0.1045:0.0	.	113	P17023	ZNF19_HUMAN	V	113	ENSP00000288177:G113V	ENSP00000288177:G113V	G	-	2	0	0	ZNF19	70067613	70067613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.648000	0.00859	-0.534000	0.06315	-0.397000	0.06425	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-2.927346	1	0.170000	NM_006961			41	40		236	231	1		1	0		0	0	72	0		1	3.442055e-01	0	0	0	8	0	41	236
ZNF19	7567	broad.mit.edu	37	16	71515996	71515996	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	ENST00000288177.5	-	3	277	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ZNF19_ENST00000565637.1_Intron|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGGTATTGAGCTTTCAGAGGC	0.507																																						ENST00000288177.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(22-24)Gct>Tct		zinc finger protein 19							65.0	52.0	57.0					16																	71515996		2198	4300	6498	SO:0001583	missense	7567	0	0					g.chr16:71515996C>A	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.22G>T	chr16.hg19:g.71515996C>A	ENSP00000288177:p.Ala8Ser	0					ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000568446.1_5'Flank	p.A8S	NM_006961.3	NP_008892.2	1	2	3	1.993938	P17023	ZNF19_HUMAN		3	277	-		Ovarian(137;0.00965)	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	1	0	hg19	c.22G>T	CCDS10901.1	1	.	.	.	.	.	.	.	.	.	.	C	7.008	0.556229	0.13436	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	2.62	0.54	0.17163	2.62	0.54	0.17163	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.33668	1.02	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40040	-0.9584	9	0.39692	T	0.17	.	5.5727	0.17206	0.1911:0.6832:0.0:0.1257	.	8	P17023	ZNF19_HUMAN	S	8	ENSP00000288177:A8S	ENSP00000288177:A8S	A	-	1	0	0	ZNF19	70073497	70073497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.308000	0.08156	-0.093000	0.12396	-1.579000	0.00862	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_006961			28	28		100	97	1		1	0		0	0	34	0		1	4.823559e-01	0	0	0	7	0	28	100
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	304					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)			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)	ATTATCACCTCATTGCCAAAA	0.473																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4	1.000000	0.200000	5.500000e-01	2.800000e-01	0.390000	0.435767	0.390000	0.370000																										0				29						c.(910-912)Gag>Aag		tyrosine aminotransferase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)						64.0	61.0	62.0					16																	71604584		2198	4300	6498	SO:0001583	missense	6898	0	0					g.chr16:71604584C>T		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.910G>A	chr16.hg19:g.71604584C>T	ENSP00000348234:p.Glu304Lys	0					RP11-432I5.1_ENST00000561529.1_RNA	p.E304K	NM_000353.2	NP_000344.1	1	2	3	1.993938	P17735	ATTY_HUMAN		8	1043	-		Ovarian(137;0.125)	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	1	1	hg19	c.910G>A	CCDS10903.1	0	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367297	0.41902	.	.	ENSG00000198650	ENST00000355962	D	0.91124	-2.79	5.44	5.44	0.79542	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.163302	0.56097	D	0.000033	D	0.86973	0.6062	L	0.31845	0.965	0.54753	D	0.999987	B	0.27264	0.173	B	0.27170	0.077	T	0.83192	-0.0083	10	0.35671	T	0.21	-22.7911	19.2736	0.94021	0.0:1.0:0.0:0.0	.	304	P17735	ATTY_HUMAN	K	304	ENSP00000348234:E304K	ENSP00000348234:E304K	E	-	1	0	0	TAT	70162085	70162085	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.518000	0.60510	2.546000	0.85860	0.563000	0.77884	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.402320	1	0.170000				10	9		302	296	0		1	0		0	0	56	0		9.966385e-01	1.334547e-03	0	0	0	2	0	10	302
MARVELD3	91862	broad.mit.edu	37	16	71674597	71674597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	303	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				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)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567																																						ENST00000299952.4	1.000000	0.460000	9.800000e-01	6.000000e-01	0.760000	0.773983	0.760000	1.000000																										0				17						c.(898-900)ctC>ctT		MARVEL domain containing 3							54.0	51.0	52.0					16																	71674597		2198	4300	6498	SO:0001819	synonymous_variant	91862	0	0					g.chr16:71674597C>T	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	ENST00000299952.4:c.900C>T	chr16.hg19:g.71674597C>T		0					MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	p.L300L	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	1	2	3	1.993938	Q96A59	MALD3_HUMAN		3	943	+		Ovarian(137;0.125)	A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000299952.4	1	1	hg19	c.900C>T	CCDS32478.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-19.990140	1	0.170000	NM_052858			18	17		266	260	0		1	1		0	0	62	0		9.999804e-01	8.146331e-01	0	6	0	42	0	18	266
PHLPP2	23035	broad.mit.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000568954.1	-	19	3434	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.				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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493																																						ENST00000568954.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3055-3057)aGc>aAc		PH domain and leucine rich repeat protein phosphatase 2							226.0	209.0	215.0					16																	71683709		2198	4300	6498	SO:0001583	missense	23035	0	0					g.chr16:71683709C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3056G>A	chr16.hg19:g.71683709C>T	ENSP00000457991:p.Ser1019Asn	0					PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron	p.S1019N			1	2	3	1.993938	Q6ZVD8	PHLP2_HUMAN		19	3434	-			A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	1	1	hg19	c.3056G>A	CCDS32479.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	0	PHLPP2	70241210	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-20.000000	1	0.170000	NM_015020			192	190		757	746	1		1	0		0	0	208	0		1	8.627537e-01	0	1	0	15	0	192	757
PHLPP2	23035	broad.mit.edu	37	16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000568954.1	-	18	3193	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E872K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	939	PP2C-like.				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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557																																						ENST00000568954.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999780	0.990000	1.000000																										0				37						c.(2815-2817)Gag>Aag		PH domain and leucine rich repeat protein phosphatase 2							117.0	88.0	98.0					16																	71686695		2198	4300	6498	SO:0001583	missense	23035	0	0					g.chr16:71686695C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2815G>A	chr16.hg19:g.71686695C>T	ENSP00000457991:p.Glu939Lys	0					PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E872K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K	p.E939K			1	2	3	1.993938	Q6ZVD8	PHLP2_HUMAN		18	3193	-			A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	1	1	hg19	c.2815G>A	CCDS32479.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.513646	0.96402	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.41	5.41	0.78517	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.02417	-1.1162	10	0.44086	T	0.13	-18.1224	18.1921	0.89810	0.0:1.0:0.0:0.0	.	872;939	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	149;746;939;939;872	ENSP00000445781:E149K;ENSP00000353610:E939K;ENSP00000348611:E939K;ENSP00000377159:E872K	ENSP00000299971:E746K	E	-	1	0	0	PHLPP2	70244196	70244196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_015020			41	40		280	269	1		1	1		0	0	64	0		1	7.670588e-01	0	4	0	17	0	41	280
PHLPP2	23035	broad.mit.edu	37	16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000568954.1	-	14	2488	c.2110A>G	c.(2110-2112)Agc>Ggc	p.S704G	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S637G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	704					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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458																																						ENST00000568954.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2110-2112)Agc>Ggc		PH domain and leucine rich repeat protein phosphatase 2							277.0	244.0	255.0					16																	71692594		2198	4300	6498	SO:0001583	missense	23035	0	0					g.chr16:71692594T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2110A>G	chr16.hg19:g.71692594T>C	ENSP00000457991:p.Ser704Gly	0					PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S637G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000540628.1_5'UTR	p.S704G			1	2	3	1.993938	Q6ZVD8	PHLP2_HUMAN		14	2488	-			A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	1	1	hg19	c.2110A>G	CCDS32479.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972492	0.74246	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.26373	1.74;2.11;2.08	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.040777	0.85682	D	0.000000	T	0.30823	0.0777	N	0.19112	0.55	0.51012	D	0.999909	D;P	0.56968	0.978;0.919	P;B	0.56343	0.796;0.35	T	0.04593	-1.0940	10	0.44086	T	0.13	-18.2593	15.3644	0.74510	0.0:0.0:0.0:1.0	.	637;704	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	511;704;704;637	ENSP00000353610:S704G;ENSP00000348611:S704G;ENSP00000377159:S637G	ENSP00000299971:S511G	S	-	1	0	0	PHLPP2	70250095	70250095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.157000	0.64911	2.228000	0.72767	0.533000	0.62120	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_015020			118	117		465	455	1		1	1		0	0	119	0		1	8.371378e-01	0	4	0	11	0	118	465
RHOT2	89941	broad.mit.edu	37	16	718508	718508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	39	Miro 1.				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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGCGGAGGAGATCACCATCC	0.761																																						ENST00000315082.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(115-117)gaG>gaT		ras homolog family member T2							16.0	20.0	19.0					16																	718508		2111	4220	6331	SO:0001583	missense	89941	0	0					g.chr16:718508G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.117G>T	chr16.hg19:g.718508G>T	ENSP00000321971:p.Glu39Asp	0					RHOT2_ENST00000569943.2_3'UTR	p.E39D	NM_138769.2	NP_620124.1	1	2	3	2.056757	Q8IXI1	MIRO2_HUMAN		3	231	+		Hepatocellular(780;0.0218)	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	1	1	hg19	c.117G>T	CCDS10417.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095509	0.36952	.	.	ENSG00000140983	ENST00000315082	T	0.77229	-1.08	3.91	3.91	0.45181	3.91	3.91	0.45181	MIRO (1);	0.000000	0.85682	U	0.000000	D	0.82637	0.5080	M	0.63428	1.95	0.49130	D	0.999752	D	0.63880	0.993	P	0.61940	0.896	D	0.83593	0.0124	10	0.72032	D	0.01	-9.6593	8.9251	0.35634	0.1049:0.0:0.8951:0.0	.	39	Q8IXI1	MIRO2_HUMAN	D	39	ENSP00000321971:E39D	ENSP00000321971:E39D	E	+	3	2	2	RHOT2	658509	658509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.973000	0.56845	1.744000	0.51775	0.306000	0.20318	GAG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_138769			47	46		194	193	0		1	1		0	0	41	0		1	1	0	45	0	76	0	47	194
RHOT2	89941	broad.mit.edu	37	16	720170	720170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	108	Miro 1.				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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632																																						ENST00000315082.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(322-324)ggG>ggA		ras homolog family member T2							39.0	42.0	41.0					16																	720170		2195	4296	6491	SO:0001819	synonymous_variant	89941	0	0					g.chr16:720170G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.324G>A	chr16.hg19:g.720170G>A		0					RHOT2_ENST00000569943.2_3'UTR	p.G108G	NM_138769.2	NP_620124.1	1	2	3	2.056757	Q8IXI1	MIRO2_HUMAN		6	438	+		Hepatocellular(780;0.0218)	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	1	1	hg19	c.324G>A	CCDS10417.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_138769			54	54		262	260	1		1	1		0	0	58	0		1	1	0	37	0	128	0	54	262
PHLPP2	23035	broad.mit.edu	37	16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000568954.1	-	7	1400	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	341					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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388																																						ENST00000568954.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1021-1023)aTt>aCt		PH domain and leucine rich repeat protein phosphatase 2							90.0	87.0	88.0					16																	71713307		2198	4300	6498	SO:0001583	missense	23035	3	121412	35				g.chr16:71713307A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1022T>C	chr16.hg19:g.71713307A>G	ENSP00000457991:p.Ile341Thr	0					PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T	p.I341T			1	2	3	1.993938	Q6ZVD8	PHLP2_HUMAN		7	1400	-			A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	1	1	hg19	c.1022T>C	CCDS32479.1	1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667761	0.67814	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26067	1.76;1.76;1.76	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.52933	0.1765	M	0.80847	2.515	0.45528	D	0.998486	P;D	0.69078	0.949;0.997	P;D	0.65874	0.675;0.939	T	0.58132	-0.7690	10	0.87932	D	0	-20.5139	15.7393	0.77876	1.0:0.0:0.0:0.0	.	341;341	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	148;341;341;341;341	ENSP00000353610:I341T;ENSP00000348611:I341T;ENSP00000377159:I341T	ENSP00000299971:I148T	I	-	2	0	0	PHLPP2	70270808	70270808	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.079000	0.94032	2.308000	0.77769	0.533000	0.62120	ATT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_015020			65	63		274	266	1		1	1		0	0	72	0		1	5.993135e-01	0	4	0	6	0	65	274
RHOT2	89941	broad.mit.edu	37	16	721082	721082	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721082G>T	ENST00000315082.4	+	11	862		c.e11-1			NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2						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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCTCGGTGCAGGTTTCCTCTT	0.677																																						ENST00000315082.4	1.000000	0.170000	1	2.400000e-01	0.340000	0.445562	0.340000	0.300000																										0				13						c.e11-1		ras homolog family member T2							68.0	63.0	64.0					16																	721082		2199	4297	6496	SO:0001630	splice_region_variant	89941	0	0					g.chr16:721082G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.749-1G>T	chr16.hg19:g.721082G>T		0							NM_138769.2	NP_620124.1	1	2	3	2.056757	Q8IXI1	MIRO2_HUMAN		11	862	+		Hepatocellular(780;0.0218)	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Splice_Site	SNP	ENST00000315082.4	0	1	hg19		CCDS10417.1	0	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437089	0.25900	.	.	ENSG00000140983	ENST00000315082	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6718	0.88220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RHOT2	661083	661083	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	9.477000	0.97925	2.520000	0.84964	0.561000	0.74099	.	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-10.147080	1	0.170000	NM_138769	Intron		11	11		421	410	0		1	0		0	0	58	0		9.981277e-01	1.169085e-01	0	0	0	21	0	11	421
DHODH	1723	broad.mit.edu	37	16	72055168	72055168	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000219240.4	+	5	684	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000573922.1_Intron|DHODH_ENST00000572887.1_Silent_p.R221R	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	221					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CCGGGCTGCGGAGCCTTCAGG	0.697																																						ENST00000219240.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.991731	0.990000	1.000000																										0				10						c.(661-663)cgG>cgA		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)						20.0	28.0	26.0					16																	72055168		2046	4177	6223	SO:0001819	synonymous_variant	1723	1	120916	31				g.chr16:72055168G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.663G>A	chr16.hg19:g.72055168G>A		0					DHODH_ENST00000572887.1_Silent_p.R221R|DHODH_ENST00000573922.1_Intron	p.R221R	NM_001361.4	NP_001352.2	1	2	3	1.993938	Q02127	PYRD_HUMAN		5	684	+		Ovarian(137;0.125)	A8K8C8|Q6P176	Silent	SNP	ENST00000219240.4	0	1	hg19	c.663G>A	CCDS42192.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.998970	1	0.170000	NM_001361			14	14		98	93	1		1	1		0	0	16	0		9.997513e-01	6.555556e-01	0	5	0	12	0	14	98
HPR	3250	broad.mit.edu	37	16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V|HPR_ENST00000228226.8_Missense_Mutation_p.A156V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	119	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532																																						ENST00000540303.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(355-357)gCt>gTt		haptoglobin-related protein							56.0	39.0	45.0					16																	72110289		1994	4165	6159	SO:0001583	missense	3250	0	0					g.chr16:72110289C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.356C>T	chr16.hg19:g.72110289C>T	ENSP00000441828:p.Ala119Val	0					HPR_ENST00000228226.8_Missense_Mutation_p.A156V|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V	p.A119V	NM_020995.3	NP_066275.3	1	2	3	1.993938	P00739	HPTR_HUMAN		5	388	+		Ovarian(137;0.125)	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	1	1	hg19	c.356C>T	CCDS42193.1	1	.	.	.	.	.	.	.	.	.	.	.	9.882	1.201811	0.22121	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91577	-2.87;-2.87;-2.87	2.46	1.32	0.21799	2.46	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066639	0.56097	D	0.000022	D	0.87184	0.6114	N	0.19112	0.55	0.40059	D	0.97587	D	0.71674	0.998	D	0.70227	0.968	T	0.82598	-0.0378	10	0.26408	T	0.33	.	4.0998	0.10009	0.0:0.4798:0.3603:0.1599	.	119	P00739	HPTR_HUMAN	V	119;119;156	ENSP00000349451:A119V;ENSP00000441828:A119V;ENSP00000228226:A156V	ENSP00000228226:A156V	A	+	2	0	0	HP	70667790	70667790	0.931000	0.31567	0.997000	0.53966	0.236000	0.25371	1.823000	0.39062	1.381000	0.46364	0.194000	0.17425	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	1	0	1		2	2	2	0		0	0	52		52	66	1	2.060000	-20.000000	1	0.170000	NM_020995			59	52		203	191	1		1	0		0	0	52	0		1	0	0	0	0	1	0	59	203
DHX38	9785	broad.mit.edu	37	16	72138495	72138495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	707					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2119-2121)cgT>cgC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							242.0	186.0	205.0					16																	72138495		2198	4300	6498	SO:0001819	synonymous_variant	9785	0	0					g.chr16:72138495T>C	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.2121T>C	chr16.hg19:g.72138495T>C		0					DHX38_ENST00000536867.1_Intron	p.R707R	NM_014003.3	NP_054722.2	1	2	3	1.993938	Q92620	PRP16_HUMAN		15	2630	+		Ovarian(137;0.125)	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	1	1	hg19	c.2121T>C	CCDS10907.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_014003			136	134		542	529	1		1	1		0	0	116	0		1	1	0	41	0	94	0	136	542
RHOT2	89941	broad.mit.edu	37	16	721923	721923	+	Missense_Mutation	SNP	C	C	T	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	340					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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677																																						ENST00000315082.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1018-1020)Ccc>Tcc		ras homolog family member T2		C	SER/PRO	0,4400		0,0,2200	51.0	63.0	59.0		1018	5.3	1.0	16	dbSNP_132	59	1,8587	1.2+/-3.3	0,1,4293	no	missense	RHOT2	NM_138769.1	74	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	340/619	721923	1,12987	2200	4294	6494	SO:0001583	missense	89941	1	120834	27				g.chr16:721923C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1018C>T	chr16.hg19:g.721923C>T	ENSP00000321971:p.Pro340Ser	0						p.P340S	NM_138769.2	NP_620124.1	1	2	3	2.056757	Q8IXI1	MIRO2_HUMAN		13	1132	+		Hepatocellular(780;0.0218)	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	1	1	hg19	c.1018C>T	CCDS10417.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001027	0.93227	0.0	1.16E-4	ENSG00000140983	ENST00000315082	T	0.09073	3.02	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.72032	D	0.01	-3.178	17.5876	0.87987	0.0:1.0:0.0:0.0	.	340	Q8IXI1	MIRO2_HUMAN	S	340	ENSP00000321971:P340S	ENSP00000321971:P340S	P	+	1	0	0	RHOT2	661924	661924	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.697000	0.84279	2.503000	0.84419	0.456000	0.33151	CCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	0		2	2	2	0		0	0	105		105	102	1	2.060000	-20.000000	1	0.170000	NM_138769			128	124		589	573	0		1	1		0	0	105	0		1	1	0	46	0	111	0	128	589
RHOT2	89941	broad.mit.edu	37	16	721946	721946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701																																						ENST00000315082.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1039-1041)cgC>cgT		ras homolog family member T2							50.0	61.0	57.0					16																	721946		2201	4296	6497	SO:0001819	synonymous_variant	89941	0	0					g.chr16:721946C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1041C>T	chr16.hg19:g.721946C>T		0						p.R347R	NM_138769.2	NP_620124.1	1	2	3	2.056757	Q8IXI1	MIRO2_HUMAN		13	1155	+		Hepatocellular(780;0.0218)	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	1	1	hg19	c.1041C>T	CCDS10417.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_138769			128	125		568	559	0		1	1		0	0	92	0		1	1	0	56	0	104	0	128	568
DHX38	9785	broad.mit.edu	37	16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	917					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2749-2751)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 38							44.0	44.0	44.0					16																	72141387		2198	4300	6498	SO:0001583	missense	9785	0	0					g.chr16:72141387G>A	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.2749G>A	chr16.hg19:g.72141387G>A	ENSP00000268482:p.Glu917Lys	0					DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	p.E917K	NM_014003.3	NP_054722.2	1	2	3	1.993938	Q92620	PRP16_HUMAN		20	3258	+		Ovarian(137;0.125)	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	1	1	hg19	c.2749G>A	CCDS10907.1	1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02525	4.26;4.26	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.063541	0.64402	D	0.000007	T	0.03520	0.0101	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.21688	0.049;0.059	B;B	0.17098	0.016;0.017	T	0.56312	-0.8000	10	0.34782	T	0.22	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	229;917	B4DVG8;Q92620	.;PRP16_HUMAN	K	917;229	ENSP00000268482:E917K;ENSP00000437898:E229K	ENSP00000268482:E917K	E	+	1	0	0	DHX38	70698888	70698888	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.590000	0.61013	2.825000	0.97269	0.655000	0.94253	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_014003			46	46		232	230	1		1	1		0	0	57	0		1	1	0	39	0	95	0	46	232
ZFHX3	463	broad.mit.edu	37	16	72821372	72821372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	ZFHX3_ENST00000397992.5_Silent_p.S2687S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					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)			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)				GGGCGGCGGCCGACGGGGGAG	0.652																																						ENST00000268489.5			0	0																														0				153						c.(10801-10803)tcG>tcA		zinc finger homeobox 3							42.0	41.0	41.0					16																	72821372		2198	4300	6498	SO:0001819	synonymous_variant	463	0	0					g.chr16:72821372C>T	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.10803G>A	chr16.hg19:g.72821372C>T							RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2687S|AC004943.1_ENST00000584072.1_RNA	p.S3601S	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	11475	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	1	1	hg19	c.10803G>A	CCDS10908.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-3.043130	1	0.170000	NM_006885			64	56		295	279	0		1	1		0	0	51	0		1	9.797929e-01	0	8	0	23	0	64	295
ZFHX3	463	broad.mit.edu	37	16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3595					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)			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)				GGGGGGCTGTCGTTTGAGTGA	0.642																																						ENST00000268489.5			0	0																														0				153						c.(10783-10785)Gac>Aac		zinc finger homeobox 3							147.0	120.0	129.0					16																	72821392		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72821392C>T	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.10783G>A	chr16.hg19:g.72821392C>T	ENSP00000268489:p.Asp3595Asn						RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N|AC004943.1_ENST00000584072.1_RNA	p.D3595N	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	11455	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.10783G>A	CCDS10908.1		.	.	.	.	.	.	.	.	.	.	C	13.23	2.173645	0.38413	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29142	1.58;1.58	3.95	3.95	0.45737	3.95	3.95	0.45737	.	0.000000	0.49305	D	0.000151	T	0.10035	0.0246	N	0.01048	-1.04	0.44092	D	0.996856	B	0.15473	0.013	B	0.04013	0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3595	Q15911	ZFHX3_HUMAN	N	3595;2681	ENSP00000268489:D3595N;ENSP00000438926:D2681N	ENSP00000268489:D3595N	D	-	1	0	0	ZFHX3	71378893	71378893	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	1.914000	0.55421	0.557000	0.71058	GAC			TCGA-IB-7651-01A-11D-2154-08	0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-9.712408	1	0.170000	NM_006885			169	163		426	404	0		1	1		0	0	87	0		1	9.987685e-01	0	4	0	24	0	169	426
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					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)			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)				CGGCAGACTGCGAGGTAGATG	0.617																																						ENST00000268489.5			0	0																														0				153						c.(10759-10761)tcG>tcA		zinc finger homeobox 3							234.0	184.0	201.0					16																	72821414		2198	4300	6498	SO:0001819	synonymous_variant	463	2	121412	36				g.chr16:72821414C>T	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.10761G>A	chr16.hg19:g.72821414C>T							RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2673S|AC004943.1_ENST00000584072.1_RNA	p.S3587S	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	11433	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	1	1	hg19	c.10761G>A	CCDS10908.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0		2	2	2	0		0	0	131		131	130	1	2.060000	-4.544630	1	0.170000	NM_006885			37	36		808	781	0		1	0		0	0	131	0		1	3.258672e-01	0	1	0	25	0	37	808
ZFHX3	463	broad.mit.edu	37	16	72822080	72822080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_ENST00000397992.5_Silent_p.Q2451Q|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3365					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)			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)				GCTGGTATTGCTGGTACTGCT	0.592																																						ENST00000268489.5			0	0																														0				153						c.(10093-10095)caG>caA		zinc finger homeobox 3							31.0	32.0	32.0					16																	72822080		2196	4297	6493	SO:0001819	synonymous_variant	463	1	121378	20				g.chr16:72822080C>T	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.10095G>A	chr16.hg19:g.72822080C>T							RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2451Q|AC004943.1_ENST00000584072.1_RNA	p.Q3365Q	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	10767	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	1	1	hg19	c.10095G>A	CCDS10908.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_006885			58	55		281	276	1		1	0		0	0	55	0		1	9.924483e-01	0	1	0	38	0	58	281
ZFHX3	463	broad.mit.edu	37	16	72822566	72822566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822566C>T	ENST00000268489.5	-	10	10281	c.9609G>A	c.(9607-9609)caG>caA	p.Q3203Q	ZFHX3_ENST00000397992.5_Silent_p.Q2289Q|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				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)			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)				cctgtggttgctgctgctgct	0.652																																						ENST00000268489.5			0	0																														0				153						c.(9607-9609)caG>caA		zinc finger homeobox 3							61.0	69.0	66.0					16																	72822566		2198	4298	6496	SO:0001819	synonymous_variant	463	0	0					g.chr16:72822566C>T	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.9609G>A	chr16.hg19:g.72822566C>T							RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2289Q|AC004943.1_ENST00000584072.1_RNA	p.Q3203Q	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	10281	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	1	0	hg19	c.9609G>A	CCDS10908.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	0		2	3	2	1		1	0	126		126	86	1	2.060000	-1.500898	0	0.170000	NM_006885			324	308		804	567	1		1	1		1	0	126	0		1	9.991022e-01	0	8	0	27	0	324	804
ZFHX3	463	broad.mit.edu	37	16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3156					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)			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)				AACAGTTGTGCTGGGCAGACC	0.562																																						ENST00000268489.5			0	0																														0				153						c.(9466-9468)aGc>aAc		zinc finger homeobox 3							102.0	105.0	104.0					16																	72822708		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72822708C>T	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.9467G>A	chr16.hg19:g.72822708C>T	ENSP00000268489:p.Ser3156Asn						RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N|AC004943.1_ENST00000584072.1_RNA	p.S3156N	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		10	10139	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.9467G>A	CCDS10908.1		.	.	.	.	.	.	.	.	.	.	C	13.51	2.259301	0.39995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.209166	0.32753	N	0.005690	T	0.64227	0.2579	N	0.19112	0.55	0.52099	D	0.999941	B	0.27559	0.181	B	0.21360	0.034	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	3156	Q15911	ZFHX3_HUMAN	N	3156;2242	ENSP00000268489:S3156N;ENSP00000438926:S2242N	ENSP00000268489:S3156N	S	-	2	0	0	ZFHX3	71380209	71380209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.277000	0.51654	2.788000	0.95919	0.557000	0.71058	AGC			TCGA-IB-7651-01A-11D-2154-08	0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	164		164	163	1	2.060000	-20.000000	1	0.170000	NM_006885			150	148		810	801	1		1	1		0	0	164	0		1	9.865157e-01	0	4	0	34	0	150	810
ZFHX3	463	broad.mit.edu	37	16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2821					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)			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)				TTTAGATTAACTGAGGACATG	0.458																																						ENST00000268489.5			0	0																														0				153						c.(8461-8463)Gtt>Ttt		zinc finger homeobox 3							147.0	131.0	136.0					16																	72828120		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72828120C>A	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.8461G>T	chr16.hg19:g.72828120C>A	ENSP00000268489:p.Val2821Phe						RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	p.V2821F	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		9	9133	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.8461G>T	CCDS10908.1		.	.	.	.	.	.	.	.	.	.	C	10.49	1.363561	0.24684	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.83	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000396	D	0.83004	0.5160	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.82592	-0.0381	10	0.59425	D	0.04	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2821	Q15911	ZFHX3_HUMAN	F	2821;1907	ENSP00000268489:V2821F;ENSP00000438926:V1907F	ENSP00000268489:V2821F	V	-	1	0	0	ZFHX3	71385621	71385621	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.849000	0.62882	2.823000	0.97156	0.650000	0.86243	GTT			TCGA-IB-7651-01A-11D-2154-08	0.458	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-7.532885	1	0.170000	NM_006885			35	35		529	514	1		1	1		0	0	89	0		1	5.524873e-01	0	4	0	25	0	35	529
ZFHX3	463	broad.mit.edu	37	16	72829446	72829446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829446T>G	ENST00000268489.5	-	9	7807	c.7135A>C	c.(7135-7137)Agc>Cgc	p.S2379R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2379					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)			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)				CAGGATGAGCTGGTAGGCGTC	0.547																																						ENST00000268489.5			0	0																														0				153						c.(7135-7137)Agc>Cgc		zinc finger homeobox 3							114.0	109.0	111.0					16																	72829446		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72829446T>G	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.7135A>C	chr16.hg19:g.72829446T>G	ENSP00000268489:p.Ser2379Arg						ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	p.S2379R	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		9	7807	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	0	1	hg19	c.7135A>C	CCDS10908.1		.	.	.	.	.	.	.	.	.	.	T	15.14	2.743710	0.49151	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.81	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000013	T	0.57989	0.2091	N	0.14661	0.345	0.51482	D	0.999925	B	0.14438	0.01	B	0.08055	0.003	T	0.54248	-0.8322	10	0.16896	T	0.51	.	15.5119	0.75789	0.0:0.0:0.0:1.0	.	2379	Q15911	ZFHX3_HUMAN	R	2379;1465	ENSP00000268489:S2379R;ENSP00000438926:S1465R	ENSP00000268489:S2379R	S	-	1	0	0	ZFHX3	71386947	71386947	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.758000	0.68776	2.063000	0.61619	0.459000	0.35465	AGC			TCGA-IB-7651-01A-11D-2154-08	0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	0		2	2	2	0		0	0	122		122	122	1	2.060000	-7.805124	1	0.170000	NM_006885			10	10		617	608	0		1	0		0	0	122	0		9.966807e-01	5.879858e-02	0	0	0	22	0	10	617
ZFHX3	463	broad.mit.edu	37	16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2291					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)			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)				GTCGGGCATTCTGAAACCACA	0.453																																						ENST00000268489.5			0	0																														0				153						c.(6871-6873)caG>caT		zinc finger homeobox 3							145.0	148.0	147.0					16																	72829708		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72829708C>A	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.6873G>T	chr16.hg19:g.72829708C>A	ENSP00000268489:p.Gln2291His						ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	p.Q2291H	NM_006885.3	NP_008816.3					Q15911	ZFHX3_HUMAN		9	7545	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.6873G>T	CCDS10908.1		.	.	.	.	.	.	.	.	.	.	C	13.47	2.246188	0.39697	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97688	-4.49;-4.49	5.65	0.87	0.19102	5.65	0.87	0.19102	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47852	D	0.000215	D	0.99077	0.9683	H	0.98577	4.27	0.53688	D	0.99997	D	0.69078	0.997	D	0.85130	0.997	D	0.98597	1.0657	10	0.87932	D	0	.	10.672	0.45764	0.0:0.7574:0.0:0.2426	.	2291	Q15911	ZFHX3_HUMAN	H	2291;1377	ENSP00000268489:Q2291H;ENSP00000438926:Q1377H	ENSP00000268489:Q2291H	Q	-	3	2	2	ZFHX3	71387209	71387209	0.848000	0.29623	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.189000	0.20188	0.561000	0.74099	CAG			TCGA-IB-7651-01A-11D-2154-08	0.453	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	1		2	2	2	0		0	0	186		186	186	1	2.060000	-20.000000	1	0.170000	NM_006885			181	177		936	922	1		1	0		0	0	186	0		1	9.697198e-01	0	1	0	30	0	181	936
ZFHX3	463	broad.mit.edu	37	16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2112					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)			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)				GGTAGCTGAGCCGGCAAGGTC	0.642																																						ENST00000268489.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(6334-6336)Gct>Tct		zinc finger homeobox 3							48.0	45.0	46.0					16																	72830247		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72830247C>A	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.6334G>T	chr16.hg19:g.72830247C>A	ENSP00000268489:p.Ala2112Ser	1					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	p.A2112S	NM_006885.3	NP_008816.3	1	2	3	2.195832	Q15911	ZFHX3_HUMAN		9	7006	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.6334G>T	CCDS10908.1	1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459948	0.12342	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73469	-0.75;-0.74	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000135	T	0.59783	0.2219	N	0.12182	0.205	0.43756	D	0.996261	B	0.14438	0.01	B	0.13407	0.009	T	0.54214	-0.8327	10	0.20046	T	0.44	.	19.1839	0.93635	0.0:1.0:0.0:0.0	.	2112	Q15911	ZFHX3_HUMAN	S	2112;1198	ENSP00000268489:A2112S;ENSP00000438926:A1198S	ENSP00000268489:A2112S	A	-	1	0	0	ZFHX3	71387748	71387748	0.993000	0.37304	0.314000	0.25224	0.145000	0.21501	3.019000	0.49635	2.523000	0.85059	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_006885			82	77		323	320	1		1	1		0	0	61	0		1	9.520822e-01	0	4	0	18	0	82	323
ZFHX3	463	broad.mit.edu	37	16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1791	Poly-Gln.				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)			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)				GCTGCTGCTGCTGTAGTTGCA	0.572																																						ENST00000268489.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(5371-5373)caG>caT		zinc finger homeobox 3							101.0	102.0	101.0					16																	72831208		2198	4300	6498	SO:0001583	missense	463	0	0					g.chr16:72831208C>A	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.5373G>T	chr16.hg19:g.72831208C>A	ENSP00000268489:p.Gln1791His	1					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	p.Q1791H	NM_006885.3	NP_008816.3	1	2	3	2.195832	Q15911	ZFHX3_HUMAN		9	6045	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.5373G>T	CCDS10908.1	1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492633	0.26774	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.86164	-2.08;-1.95	6.17	3.21	0.36854	6.17	3.21	0.36854	.	0.000000	0.47455	D	0.000230	D	0.89760	0.6808	L	0.49126	1.545	0.54753	D	0.999988	D	0.71674	0.998	D	0.79784	0.993	D	0.88453	0.3050	10	0.52906	T	0.07	.	9.4691	0.38831	0.0:0.6739:0.0:0.3261	.	1791	Q15911	ZFHX3_HUMAN	H	1791;877	ENSP00000268489:Q1791H;ENSP00000438926:Q877H	ENSP00000268489:Q1791H	Q	-	3	2	2	ZFHX3	71388709	71388709	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	0.133000	0.15912	0.949000	0.37715	-0.150000	0.13652	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	106		106	109	1	2.060000	-20.000000	1	0.170000	NM_006885			72	70		436	431	1		1	0		0	0	106	0		1	8.704609e-01	0	0	0	24	0	72	436
WDR24	84219	broad.mit.edu	37	16	734755	734755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000248142.6	-	13	2741	c.2742C>T	c.(2740-2742)ggC>ggT	p.G914G	JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.G784G			Q96S15	WDR24_HUMAN	WD repeat domain 24	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697																																						ENST00000248142.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999270	0.990000	1.000000																										0				19						c.(2740-2742)ggC>ggT		WD repeat domain 24							15.0	15.0	15.0					16																	734755		2166	4264	6430	SO:0001819	synonymous_variant	84219	1	119536	16				g.chr16:734755G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2742C>T	chr16.hg19:g.734755G>A		0					JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.G784G|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank	p.G914G			1	2	3	2.056757	Q96S15	WDR24_HUMAN		13	2741	-		Hepatocellular(780;0.0218)	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	1	1	hg19	c.2742C>T		1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.985040	1	0.170000	NM_032259			11	9		46	46	0		1	1		0	0	16	0		9.986403e-01	8.335094e-01	0	6	0	10	0	11	46
WDR24	84219	broad.mit.edu	37	16	737061	737061	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000248142.6	-	7	1404	c.1405A>T	c.(1405-1407)Aac>Tac	p.N469Y	JMJD8_ENST00000293882.4_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.N339Y			Q96S15	WDR24_HUMAN	WD repeat domain 24	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706																																						ENST00000248142.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				19						c.(1405-1407)Aac>Tac		WD repeat domain 24							13.0	17.0	15.0					16																	737061		2189	4288	6477	SO:0001583	missense	84219	0	0					g.chr16:737061T>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1405A>T	chr16.hg19:g.737061T>A	ENSP00000248142:p.Asn469Tyr	0					JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.N339Y|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank	p.N469Y			1	2	3	2.056757	Q96S15	WDR24_HUMAN		7	1404	-		Hepatocellular(780;0.0218)	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	1	1	hg19	c.1405A>T		1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745631	0.69418	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79554	-1.28;0.15	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89353	0.3662	10	0.72032	D	0.01	-23.566	13.5165	0.61543	0.0:0.0:0.0:1.0	.	339	Q96S15-2	.	Y	469;339	ENSP00000248142:N469Y;ENSP00000293883:N339Y	ENSP00000248142:N469Y	N	-	1	0	0	WDR24	677062	677062	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.142000	0.77339	2.033000	0.60031	0.533000	0.62120	AAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000	NM_032259			24	23		99	95	1		1	0		0	0	12	0		9.999998e-01	1.831857e-01	0	0	0	4	0	24	99
WDR24	84219	broad.mit.edu	37	16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000248142.6	-	7	1278	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	JMJD8_ENST00000293882.4_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.R297*			Q96S15	WDR24_HUMAN	WD repeat domain 24	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637																																						ENST00000248142.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1279-1281)Cga>Tga		WD repeat domain 24							46.0	52.0	50.0					16																	737187		2199	4300	6499	SO:0001587	stop_gained	84219	2	121372	34				g.chr16:737187G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1279C>T	chr16.hg19:g.737187G>A	ENSP00000248142:p.Arg427*	0					JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.R297*|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank	p.R427*			1	2	3	2.056757	Q96S15	WDR24_HUMAN		7	1278	-		Hepatocellular(780;0.0218)	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Nonsense_Mutation	SNP	ENST00000248142.6	0	1	hg19	c.1279C>T		1	.	.	.	.	.	.	.	.	.	.	G	41	8.683699	0.98914	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.067073	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-16.6398	10.3454	0.43903	0.0:0.0:0.7036:0.2964	.	.	.	.	X	427;297	.	ENSP00000248142:R427X	R	-	1	2	2	WDR24	677188	677188	1.000000	0.71417	0.993000	0.49108	0.424000	0.31475	6.039000	0.70972	2.513000	0.84729	0.655000	0.94253	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-2.823617	1	0.170000	NM_032259			58	57		279	274	1		1	1		0	0	65	0		1	9.623250e-01	0	5	0	22	0	58	279
WDR24	84219	broad.mit.edu	37	16	739280	739280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000248142.6	-	3	546	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Missense_Mutation_p.R121C			Q96S15	WDR24_HUMAN	WD repeat domain 24	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597																																						ENST00000248142.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(547-549)Cgc>Tgc		WD repeat domain 24							132.0	100.0	111.0					16																	739280		2200	4300	6500	SO:0001583	missense	84219	0	0					g.chr16:739280G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.547C>T	chr16.hg19:g.739280G>A	ENSP00000248142:p.Arg183Cys	0					WDR24_ENST00000293883.4_Missense_Mutation_p.R121C|LA16c-313D11.12_ENST00000566927.1_RNA	p.R183C			1	2	3	2.056757	Q96S15	WDR24_HUMAN		3	546	-		Hepatocellular(780;0.0218)	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	1	1	hg19	c.547C>T		1	.	.	.	.	.	.	.	.	.	.	g	33	5.223778	0.95139	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76748	-0.2845	10	0.56958	D	0.05	-15.7029	17.5824	0.87972	0.0:0.0:1.0:0.0	.	121	Q96S15-2	.	C	183;121	ENSP00000248142:R183C;ENSP00000293883:R121C	ENSP00000248142:R183C	R	-	1	0	0	WDR24	679281	679281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.132000	0.94455	2.391000	0.81399	0.561000	0.74099	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_032259			43	43		216	214	1		1	1		0	0	48	0		1	9.958024e-01	0	5	0	40	0	43	216
ZFHX3	463	broad.mit.edu	37	16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T	rs561634666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	361					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)			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)				AAACTGTGTCCGGGGCCTATG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.001					ENST00000268489.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(1081-1083)Gga>Aga		zinc finger homeobox 3							55.0	68.0	64.0					16																	72992964		2195	4299	6494	SO:0001583	missense	463	3	121394	37				g.chr16:72992964C>T	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.1081G>A	chr16.hg19:g.72992964C>T	ENSP00000268489:p.Gly361Arg	1					ZFHX3_ENST00000397992.5_Intron	p.G361R	NM_006885.3	NP_008816.3	1	2	3	2.195832	Q15911	ZFHX3_HUMAN		2	1753	-		Ovarian(137;0.13)	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	1	1	hg19	c.1081G>A	CCDS10908.1	1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316310	0.40996	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.47455	D	0.000224	T	0.82001	0.4942	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82141	-0.0604	10	0.46703	T	0.11	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	361	Q15911	ZFHX3_HUMAN	R	361	ENSP00000268489:G361R	ENSP00000268489:G361R	G	-	1	0	0	ZFHX3	71550465	71550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.448000	0.82819	0.591000	0.81541	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-6.230468	1	0.170000	NM_006885			172	170		503	499	1		1	0		0	0	105	0		1	9.238378e-01	0	0	0	15	0	172	503
GLG1	2734	broad.mit.edu	37	16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493																																						ENST00000422840.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1408-1410)Cga>Tga		golgi glycoprotein 1							129.0	118.0	122.0					16																	74524940		2198	4300	6498	SO:0001587	stop_gained	2734	0	0					g.chr16:74524940G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1408C>T	chr16.hg19:g.74524940G>A	ENSP00000405984:p.Arg470*	1					GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	p.R470*	NM_001145667.1	NP_001139139.1	1	2	3	2.195832	Q92896	GSLG1_HUMAN		8	1407	-			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	0	1	hg19	c.1408C>T	CCDS45527.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.850222	0.97885	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	4.75	0.60458	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.977	16.2296	0.82322	0.0:0.0:0.8664:0.1336	.	.	.	.	X	470;459;470	.	ENSP00000205061:R470X	R	-	1	2	2	GLG1	73082441	73082441	1.000000	0.71417	0.941000	0.38009	0.939000	0.58152	6.367000	0.73099	1.384000	0.46424	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	1	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-3.282411	1	0.170000	NM_012201			105	104		450	442	1		1	1		0	0	103	0		1	1	0	5	0	479	0	105	450
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	rs535254738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458																																						ENST00000361070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1021-1023)Gtc>Atc		ring finger and WD repeat domain 3							222.0	193.0	203.0					16																	74678318		2198	4300	6498	SO:0001583	missense	55159	5	121412	39				g.chr16:74678318C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1021G>A	chr16.hg19:g.74678318C>T	ENSP00000354361:p.Val341Ile	1					RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	p.V341I	NM_018124.3	NP_060594.3	1	2	3	2.195832	Q6PCD5	RFWD3_HUMAN		6	1118	-			A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	1	1	hg19	c.1021G>A	CCDS32486.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	0	RFWD3	73235819	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-20.000000	1	0.170000	NM_018124			182	180		579	571	1		1	1		0	0	123	0		1	9.999995e-01	0	27	0	40	0	182	579
MLKL	197259	broad.mit.edu	37	16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483																																						ENST00000308807.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1201-1203)Gtc>Atc		mixed lineage kinase domain-like							104.0	100.0	101.0					16																	74709292		2198	4300	6498	SO:0001583	missense	197259	1	121412	35				g.chr16:74709292C>T	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.1201G>A	chr16.hg19:g.74709292C>T	ENSP00000308351:p.Val401Ile	1					MLKL_ENST00000306247.7_Silent_p.S182S	p.V401I	NM_152649.2	NP_689862.1	1	2	3	2.195832				9	1664	-				Missense_Mutation	SNP	ENST00000308807.7	1	1	hg19	c.1201G>A	CCDS32487.1	1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802705	0.50315	.	.	ENSG00000168404	ENST00000308807	D	0.93659	-3.26	4.96	4.0	0.46444	4.96	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061471	0.64402	N	0.000005	D	0.88040	0.6330	.	.	.	0.33832	D	0.630322	P	0.45348	0.856	B	0.40165	0.321	D	0.88334	0.2970	9	0.23891	T	0.37	-20.2887	9.8095	0.40815	0.0:0.9015:0.0:0.0985	.	401	Q8NB16	MLKL_HUMAN	I	401	ENSP00000308351:V401I	ENSP00000308351:V401I	V	-	1	0	0	MLKL	73266793	73266793	0.995000	0.38212	0.999000	0.59377	0.946000	0.59487	1.105000	0.31086	1.398000	0.46701	0.498000	0.49722	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	1	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_152649			113	108		348	342	1		1	1		0	0	73	0		1	9.999995e-01	0	13	0	54	0	113	348
ZNRF1	84937	broad.mit.edu	37	16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000335325.4	+	3	1180	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	180					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587																																						ENST00000335325.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999102	0.990000	1.000000																										0				1						c.(538-540)Gac>Tac		zinc and ring finger 1, E3 ubiquitin protein ligase							87.0	68.0	74.0					16																	75138699		2198	4300	6498	SO:0001583	missense	84937	0	0					g.chr16:75138699G>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.538G>T	chr16.hg19:g.75138699G>T	ENSP00000335091:p.Asp180Tyr	1					ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y	p.D180Y	NM_032268.4	NP_115644.1	1	2	3	2.195832	Q8ND25	ZNRF1_HUMAN		3	1180	+			D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	1	1	hg19	c.538G>T	CCDS10912.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880101	0.91740	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52983	0.64	6.17	6.17	0.99709	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);	0.045801	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.988;0.994	T	0.68398	-0.5419	10	0.87932	D	0	-16.4321	20.8794	0.99867	0.0:0.0:1.0:0.0	.	180;231;180	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	Y	231;180	ENSP00000335091:D180Y	ENSP00000323362:D231Y	D	+	1	0	0	ZNRF1	73696200	73696200	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	9.672000	0.98629	2.941000	0.99782	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.866080	1	0.170000				11	10		55	49	1		1	1		0	0	17	0		9.977791e-01	9.999954e-01	0	38	0	107	0	11	55
BCAR1	9564	broad.mit.edu	37	16	75263526	75263526	+	Silent	SNP	G	G	A	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000162330.5	-	7	2622	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000393420.6_Silent_p.A850A|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Silent_p.A832A	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	832					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677																																						ENST00000162330.5	1.000000	0.830000	1	9.900000e-01	0.990000	0.988644	0.990000	1.000000																										0				35						c.(2494-2496)gcC>gcT		breast cancer anti-estrogen resistance 1		G	,,,,,,,,	0,4394		0,0,2197	38.0	29.0	32.0		2634,2550,2550,2550,2496,2490,2052,1866,2496	-9.8	0.0	16	dbSNP_134	32	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,	878/917,850/889,850/889,850/889,832/871,830/869,684/723,622/661,832/871	75263526	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	9564	2	121276	32				g.chr16:75263526G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2496C>T	chr16.hg19:g.75263526G>A		1					BCAR1_ENST00000418647.3_Silent_p.A878A|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000393420.6_Silent_p.A850A|BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.A850A	p.A832A	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	1	2	3	2.195832	P56945	BCAR1_HUMAN		7	2622	-			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	0	1	hg19	c.2496C>T	CCDS10915.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.999990	1	0.170000	NM_014567			17	17		145	144	1		1	1		0	0	21	0		9.999728e-01	9.999994e-01	0	21	0	216	0	17	145
BCAR1	9564	broad.mit.edu	37	16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000162330.5	-	6	2194	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	690					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642																																						ENST00000162330.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999443	0.990000	1.000000																										0				35						c.(2068-2070)Cgg>Tgg		breast cancer anti-estrogen resistance 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	39.0	35.0	37.0		2206,2122,2122,2122,2068,2062,1624,1438,2068	4.4	1.0	16	dbSNP_134	37	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	101,101,101,101,101,101,101,101,101	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	736/917,708/889,708/889,708/889,690/871,688/869,542/723,480/661,690/871	75267776	2,12992	2198	4299	6497	SO:0001583	missense	9564	11	121298	34				g.chr16:75267776G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2068C>T	chr16.hg19:g.75267776G>A	ENSP00000162330:p.Arg690Trp	1					BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W	p.R690W	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	1	2	3	2.195832	P56945	BCAR1_HUMAN		6	2194	-			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	1	1	hg19	c.2068C>T	CCDS10915.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994052	0.74703	0.0	2.33E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	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	5.34	4.37	0.52481	5.34	4.37	0.52481	CAS family, DUF3513 (1);	0.125811	0.50627	D	0.000115	T	0.41213	0.1149	L	0.43152	1.355	0.40525	D	0.980876	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	0.85130	0.997;0.99;0.997;0.995;0.995;0.997;0.985;0.997;0.994	T	0.33979	-0.9847	10	0.72032	D	0.01	-47.822	11.3366	0.49507	0.0:0.0:0.67:0.33	.	708;542;736;688;708;708;690;690;480	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	W	690;708;708;690;736;542;708;688;661	ENSP00000162330:R690W;ENSP00000377074:R708W;ENSP00000392708:R708W;ENSP00000443841:R690W;ENSP00000391669:R736W;ENSP00000440370:R542W;ENSP00000377072:R708W;ENSP00000440415:R688W;ENSP00000442161:R661W	ENSP00000162330:R690W	R	-	1	2	2	BCAR1	73825277	73825277	0.987000	0.35691	1.000000	0.80357	0.839000	0.47603	1.029000	0.30140	1.368000	0.46115	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.998530	1	0.170000	NM_014567			13	13		67	66	1		1	1		0	0	21	0		9.996603e-01	1	0	60	0	190	0	13	67
BCAR1	9564	broad.mit.edu	37	16	75269582	75269582	+	Silent	SNP	G	G	A	rs61729594	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75269582G>A	ENST00000162330.5	-	5	1341	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	BCAR1_ENST00000546196.1_Silent_p.V376V|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.V451V|BCAR1_ENST00000542031.2_Silent_p.V403V|BCAR1_ENST00000535626.2_Silent_p.V257V|BCAR1_ENST00000420641.3_Silent_p.V423V|BCAR1_ENST00000393422.2_Silent_p.V423V|BCAR1_ENST00000393420.6_Silent_p.V423V|BCAR1_ENST00000538440.2_Silent_p.V405V	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	405	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCACTGTCGACCACGCCAC	0.697													G|||	43	0.00858626	0.0325	0.0	5008	,	,		15499	0.0		0.0	False		,,,				2504	0.0					ENST00000162330.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1213-1215)gtC>gtT		breast cancer anti-estrogen resistance 1		G	,,,,,,,,	96,4300	74.7+/-112.8	2,92,2104	30.0	37.0	35.0		1353,1269,1269,1269,1215,1209,771,585,1215	-8.1	0.0	16	dbSNP_129	35	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	2,93,6402	AA,AG,GG		0.0116,2.1838,0.7465	,,,,,,,,	451/917,423/889,423/889,423/889,405/871,403/869,257/723,195/661,405/871	75269582	97,12897	2198	4299	6497	SO:0001819	synonymous_variant	9564	238	121178	52				g.chr16:75269582G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1215C>T	chr16.hg19:g.75269582G>A		1					BCAR1_ENST00000418647.3_Silent_p.V451V|BCAR1_ENST00000538440.2_Silent_p.V405V|BCAR1_ENST00000393420.6_Silent_p.V423V|BCAR1_ENST00000546196.1_Silent_p.V376V|BCAR1_ENST00000393422.2_Silent_p.V423V|BCAR1_ENST00000542031.2_Silent_p.V403V|BCAR1_ENST00000535626.2_Silent_p.V257V|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.V423V	p.V405V	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	1	2	3	2.195832	P56945	BCAR1_HUMAN		5	1341	-			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	1	0	hg19	c.1215C>T	CCDS10915.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-2.526011	1	0.170000	NM_014567			55	54		149	147	1		1	1		0	0	30	0		1	1	0	68	0	127	0	55	149
BCAR1	9564	broad.mit.edu	37	16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000162330.5	-	2	406	c.280C>T	c.(280-282)Cct>Tct	p.P94S	BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	94					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677																																						ENST00000162330.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(280-282)Cct>Tct		breast cancer anti-estrogen resistance 1							34.0	37.0	36.0					16																	75276721		2198	4299	6497	SO:0001583	missense	9564	0	0					g.chr16:75276721G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.280C>T	chr16.hg19:g.75276721G>A	ENSP00000162330:p.Pro94Ser	1					BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S	p.P94S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	1	2	3	2.195832	P56945	BCAR1_HUMAN		2	406	-			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	1	1	hg19	c.280C>T	CCDS10915.1	1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405442	0.00195	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.0	2.74	0.32292	4.0	2.74	0.32292	.	0.733051	0.11840	N	0.524401	T	0.73337	0.3574	L	0.34521	1.04	0.20403	N	0.999903	B;P;D;B;P;B;B	0.67145	0.136;0.948;0.996;0.033;0.492;0.007;0.05	B;P;D;B;B;B;B	0.78314	0.02;0.68;0.991;0.04;0.112;0.007;0.02	T	0.61058	-0.7139	10	0.09843	T	0.71	-18.0329	6.4284	0.21782	0.2322:0.0:0.7678:0.0	.	112;140;92;94;112;94;94	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	94;112;112;94;140;94;92;65	ENSP00000162330:P94S;ENSP00000377074:P112S;ENSP00000392708:P112S;ENSP00000443841:P94S;ENSP00000391669:P140S;ENSP00000377072:P94S;ENSP00000440415:P92S;ENSP00000442161:P65S	ENSP00000162330:P94S	P	-	1	0	0	BCAR1	73834222	73834222	0.223000	0.23663	0.144000	0.22314	0.035000	0.12851	0.902000	0.28459	1.929000	0.55896	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_014567			91	85		384	373	1		1	1		0	0	52	0		1	1	0	42	0	126	0	91	384
TMEM170A	124491	broad.mit.edu	37	16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000561878.1	-	1	189	c.92G>T	c.(91-93)gGg>gTg	p.G31V	RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000569540.1_5'Flank|TMEM170A_ENST00000357613.4_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral component of membrane (GO:0016021)				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746																																						ENST00000561878.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(91-93)gGg>gTg		transmembrane protein 170A							34.0	31.0	32.0					16																	75498407		2193	4289	6482	SO:0001583	missense	124491	0	0					g.chr16:75498407C>A	BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822			29577	protein-coding gene	gene with protein product			"""transmembrane protein 170"""	TMEM170		12477932	Standard	NM_145254		Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000561878.1:c.92G>T	chr16.hg19:g.75498407C>A	ENSP00000454404:p.Gly31Val	1					TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000357613.4_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000569540.1_5'Flank|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V	p.G31V	NM_145254.1	NP_660297.1	1	2	3	2.195832	Q8WVE7	T170A_HUMAN		1	189	-			B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	Missense_Mutation	SNP	ENST00000561878.1	1	1	hg19	c.92G>T	CCDS10917.1	1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441336	0.63067	.	.	ENSG00000166822	ENST00000357613	.	.	.	5.5	4.55	0.56014	5.5	4.55	0.56014	.	0.196110	0.53938	D	0.000044	T	0.29882	0.0747	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12502	-1.0545	9	0.15952	T	0.53	-6.9541	9.2532	0.37568	0.0:0.9036:0.0:0.0964	.	31;31	Q8WVE7;Q8WVE7-2	T170A_HUMAN;.	V	31	.	ENSP00000350230:G31V	G	-	2	0	0	TMEM170A	74055908	74055908	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.978000	0.29488	2.593000	0.87608	0.655000	0.94253	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_145254			42	42		126	122	0		1	1		0	0	14	0		1	9.994405e-01	0	11	0	27	0	42	126
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	ENST00000332272.4	-	3	1174	c.995C>A	c.(994-996)gCc>gAc	p.A332D	CHST6_ENST00000390664.2_Missense_Mutation_p.A332D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	332					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642																																						ENST00000332272.4	0.670000	0.270000	5.700000e-01	3.500000e-01	0.450000	0.465254	0.450000	0.450000																										0				17						c.(994-996)gCc>gAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							65.0	59.0	61.0					16																	75512732		2198	4300	6498	SO:0001583	missense	4166	0	0					g.chr16:75512732G>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.995C>A	chr16.hg19:g.75512732G>T	ENSP00000328983:p.Ala332Asp	1					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A332D	p.A332D	NM_021615.4	NP_067628.1	1	2	3	2.195832	Q9GZX3	CHST6_HUMAN		3	1174	-			D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	1	1	hg19	c.995C>A	CCDS10918.1	0	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225761	0.79576	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	T;T	0.79554	-1.28;-1.28	4.9	4.9	0.64082	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.89287	3.02	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.89635	0.3858	10	0.27082	T	0.32	.	15.563	0.76266	0.0:0.0:1.0:0.0	.	332	Q9GZX3	CHST6_HUMAN	D	332	ENSP00000328983:A332D;ENSP00000375079:A332D	ENSP00000328983:A332D	A	-	2	0	0	CHST6	74070233	74070233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.740000	0.84986	2.278000	0.76064	0.591000	0.81541	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-16.765380	1	0.170000	NM_021615			18	18		498	493	0		1	0		0	0	80	0		9.999805e-01	6.089739e-02	0	0	0	11	0	18	498
CHST6	4166	broad.mit.edu	37	16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	CHST6_ENST00000390664.2_Missense_Mutation_p.S27T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	27					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGCCGGGAAACCAGAAAG	0.687																																						ENST00000332272.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(79-81)Tcc>Acc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							13.0	16.0	15.0					16																	75513648		2189	4294	6483	SO:0001583	missense	4166	0	0					g.chr16:75513648A>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.79T>A	chr16.hg19:g.75513648A>T	ENSP00000328983:p.Ser27Thr	1					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	p.S27T	NM_021615.4	NP_067628.1	1	2	3	2.195832	Q9GZX3	CHST6_HUMAN		3	258	-			D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	0	1	hg19	c.79T>A	CCDS10918.1	1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339809	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96334	-3.98;-3.98	5.01	2.62	0.31277	5.01	2.62	0.31277	.	1.219520	0.06151	N	0.674135	D	0.91841	0.7418	L	0.29908	0.895	0.33931	D	0.642091	B	0.14438	0.01	B	0.08055	0.003	D	0.85804	0.1375	10	0.18276	T	0.48	.	7.2899	0.26360	0.7159:0.144:0.0:0.1401	.	27	Q9GZX3	CHST6_HUMAN	T	27	ENSP00000328983:S27T;ENSP00000375079:S27T	ENSP00000328983:S27T	S	-	1	0	0	CHST6	74071149	74071149	0.375000	0.25089	0.997000	0.53966	0.293000	0.27360	1.087000	0.30865	1.871000	0.54225	0.482000	0.46254	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_021615			27	27		75	73	0		1	1		0	0	8	0		1	4.069209e-01	0	3	0	2	0	27	75
CHST5	23563	broad.mit.edu	37	16	75563056	75563056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	CHST5_ENST00000541075.1_Silent_p.S415S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	409					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657																																						ENST00000336257.3	1.000000	0.360000	9.300000e-01	5.100000e-01	0.690000	0.712432	0.690000	1.000000																										0				24						c.(1225-1227)tcG>tcA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							31.0	25.0	27.0					16																	75563056		2197	4298	6495	SO:0001819	synonymous_variant	23563	1	121232	26				g.chr16:75563056C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1227G>A	chr16.hg19:g.75563056C>T		1					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	p.S409S	NM_024533.4	NP_078809.2	1	2	3	2.195832	Q9GZS9	CHST5_HUMAN		3	2621	-			B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	1	1	hg19	c.1227G>A	CCDS10919.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.155181	1	0.170000	NM_012126			10	10		178	176	0		1	0		0	0	36	0		9.969580e-01	1.990755e-02	0	0	0	4	0	10	178
CHST5	23563	broad.mit.edu	37	16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	CHST5_ENST00000541075.1_Missense_Mutation_p.V226M|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697																																						ENST00000336257.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(658-660)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							42.0	47.0	46.0					16																	75563625		2197	4299	6496	SO:0001583	missense	23563	0	0					g.chr16:75563625C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.658G>A	chr16.hg19:g.75563625C>T	ENSP00000338783:p.Val220Met	1					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	p.V220M	NM_024533.4	NP_078809.2	1	2	3	2.195832	Q9GZS9	CHST5_HUMAN		3	2052	-			B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	1	1	hg19	c.658G>A	CCDS10919.1	1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688457	0.29962	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.29142	1.58;1.58	2.84	1.87	0.25490	2.84	1.87	0.25490	Sulfotransferase domain (1);	0.204220	0.40222	N	0.001141	T	0.47563	0.1452	M	0.79805	2.47	0.40904	D	0.984174	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.49224	-0.8962	10	0.52906	T	0.07	.	3.652	0.08206	0.0:0.6029:0.0:0.3971	.	226;220	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	220;226	ENSP00000338783:V220M;ENSP00000441220:V226M	ENSP00000338783:V220M	V	-	1	0	0	CHST5	74121126	74121126	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.279000	0.43435	1.583000	0.49898	0.313000	0.20887	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_012126			119	118		596	589	1		1	0		0	0	80	0		1	0	0	1	0	0	0	119	596
GABARAPL2	11345	broad.mit.edu	37	16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000568455.1_5'UTR	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	26					autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627																																						ENST00000037243.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(76-78)cCc>cTc		GABA(A) receptor-associated protein-like 2							55.0	50.0	51.0					16																	75600792		2198	4300	6498	SO:0001583	missense	11345	0	0					g.chr16:75600792C>T	AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.77C>T	chr16.hg19:g.75600792C>T	ENSP00000037243:p.Pro26Leu	1					GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L	p.P26L	NM_007285.6	NP_009216.1	1	2	3	2.195832	P60520	GBRL2_HUMAN		2	213	+			O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	1	1	hg19	c.77C>T	CCDS10921.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.726844	0.96847	.	.	ENSG00000034713	ENST00000037243	T	0.53857	0.6	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.048229	0.85682	N	0.000000	T	0.67702	0.2921	M	0.88450	2.955	0.80722	D	1	B	0.28082	0.2	B	0.37731	0.257	T	0.71484	-0.4579	10	0.72032	D	0.01	-3.1656	17.7527	0.88439	0.0:1.0:0.0:0.0	.	26	P60520	GBRL2_HUMAN	L	26	ENSP00000037243:P26L	ENSP00000037243:P26L	P	+	2	0	0	GABARAPL2	74158293	74158293	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	7.115000	0.77110	2.544000	0.85801	0.655000	0.94253	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_007285			68	66		228	226	1		1	1		0	0	77	0		1	1	0	232	0	500	0	68	228
ADAT1	23536	broad.mit.edu	37	16	75642133	75642133	+	Silent	SNP	G	G	A	rs371519531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	426	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443																																						ENST00000307921.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1276-1278)agC>agT		adenosine deaminase, tRNA-specific 1							258.0	230.0	240.0					16																	75642133		2198	4300	6498	SO:0001819	synonymous_variant	23536	0	0					g.chr16:75642133G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1278C>T	chr16.hg19:g.75642133G>A		1					RP11-77K12.8_ENST00000564489.1_RNA	p.S426S	NM_012091.3	NP_036223.2	1	2	3	2.195832	Q9BUB4	ADAT1_HUMAN		9	1423	-			Q9NVB7|Q9UNG3	Silent	SNP	ENST00000307921.3	1	1	hg19	c.1278C>T	CCDS10922.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	1	0	1		2	2	2	0		0	0	225		225	222	1	2.060000	-20.000000	1	0.170000	NM_012091			230	222		1026	981	0		1	1		0	0	225	0		1	9.998032e-01	0	18	0	38	0	230	1026
KARS	3735	broad.mit.edu	37	16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000302445.3	-	12	1537	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	KARS_ENST00000319410.5_Missense_Mutation_p.T528A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	500					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517																																						ENST00000302445.3	1.000000	0.810000	1	9.000000e-01	0.990000	0.964171	0.990000	1.000000																										0				18						c.(1498-1500)Act>Gct		lysyl-tRNA synthetase	L-Lysine(DB00123)						177.0	176.0	176.0					16																	75663366		2198	4300	6498	SO:0001583	missense	3735	0	0					g.chr16:75663366T>C	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1498A>G	chr16.hg19:g.75663366T>C	ENSP00000303043:p.Thr500Ala	1					KARS_ENST00000319410.5_Missense_Mutation_p.T528A|KARS_ENST00000568378.1_Intron	p.T500A	NM_005548.2	NP_005539.1	1	2	3	2.195832	Q15046	SYK_HUMAN		12	1537	-			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	1	1	hg19	c.1498A>G	CCDS10923.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.227218	0.95173	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84442	-1.85;-1.85	5.81	5.81	0.92471	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.94771	3.58	0.80722	D	1	P;D	0.61080	0.928;0.989	P;P	0.62491	0.635;0.903	D	0.95310	0.8411	10	0.87932	D	0	-18.1764	15.0088	0.71533	0.0:0.0:0.0:1.0	.	528;500	Q15046-2;Q15046	.;SYK_HUMAN	A	528;500	ENSP00000325448:T528A;ENSP00000303043:T500A	ENSP00000303043:T500A	T	-	1	0	0	KARS	74220867	74220867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.013000	0.88655	2.221000	0.72209	0.455000	0.32223	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	1	0	1		2	2	2	0		0	0	215		215	214	1	2.060000	-20.000000	1	0.170000	NM_005548			100	96		1177	1152	0		1	1		0	0	215	0		1	1	0	73	0	732	0	100	1177
TERF2IP	54386	broad.mit.edu	37	16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413																																						ENST00000300086.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(829-831)aTa>aCa		telomeric repeat binding factor 2, interacting protein							91.0	94.0	93.0					16																	75690139		2198	4300	6498	SO:0001583	missense	54386	0	0					g.chr16:75690139T>C	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.830T>C	chr16.hg19:g.75690139T>C	ENSP00000300086:p.Ile277Thr	1						p.I277T	NM_018975.3	NP_061848.2	1	2	3	2.195832	Q9NYB0	TE2IP_HUMAN		3	927	+			B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	1	1	hg19	c.830T>C	CCDS32491.1	1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519194	0.44866	.	.	ENSG00000166848	ENST00000300086	T	0.50548	0.74	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.456793	0.24128	N	0.041294	T	0.27832	0.0685	N	0.19112	0.55	0.26115	N	0.980632	B	0.13594	0.008	B	0.09377	0.004	T	0.12993	-1.0526	10	0.14656	T	0.56	-9.2054	7.6006	0.28073	0.0:0.0938:0.0:0.9062	.	277	Q9NYB0	TE2IP_HUMAN	T	277	ENSP00000300086:I277T	ENSP00000300086:I277T	I	+	2	0	0	TERF2IP	74247640	74247640	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	2.228000	0.72767	0.482000	0.46254	ATA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_018975			85	80		420	414	1		1	1		0	0	78	0		1	1	0	55	0	222	0	85	420
CNTNAP4	85445	broad.mit.edu	37	16	76389355	76389355	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	ENST00000476707.1	+	2	485	c.346T>G	c.(346-348)Ttc>Gtc	p.F116V	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F112V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	113	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)				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						CCTCCTGATGTTCAGTGATAG	0.483																																						ENST00000476707.1	1.000000	0.590000	1	7.100000e-01	0.840000	0.847594	0.840000	1.000000																										0				64						c.(346-348)Ttc>Gtc		contactin associated protein-like 4							100.0	91.0	94.0					16																	76389355		2198	4300	6498	SO:0001583	missense	85445	0	0					g.chr16:76389355T>G	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.346T>G	chr16.hg19:g.76389355T>G	ENSP00000417628:p.Phe116Val	1					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F112V	p.F116V			1	2	3	2.195832	Q9C0A0	CNTP4_HUMAN		2	485	+			E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	1	1	hg19	c.346T>G		0	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235826	0.79800	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.8	4.8	0.61643	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42420	D	0.000711	D	0.98485	0.9495	.	.	.	0.45883	D	0.998738	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.995;0.992;0.99;1.0	D	0.99285	1.0897	9	0.87932	D	0	.	12.6038	0.56511	0.0:0.0:0.0:1.0	.	88;116;88;113	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	112;112;88;116	ENSP00000306893:F112V;ENSP00000439733:F112V;ENSP00000418741:F88V;ENSP00000417628:F116V	ENSP00000306893:F112V	F	+	1	0	0	CNTNAP4	74946856	74946856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.145000	0.66743	0.482000	0.46254	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-8.139774	1	0.170000	NM_033401			32	32		451	439	0		1	0		0	0	103	0		1	0	0	0	0	1	0	32	451
CNTNAP4	85445	broad.mit.edu	37	16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000476707.1	+	6	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1. {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)				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						GATCATTGCTATGGTGAGAGT	0.338																																						ENST00000476707.1	1.000000	0.730000	1	9.900000e-01	0.990000	0.980856	0.990000	1.000000																										0				64						c.(1078-1080)Atg>Ttg		contactin associated protein-like 4							42.0	40.0	41.0					16																	76483753		2198	4300	6498	SO:0001583	missense	85445	0	0					g.chr16:76483753A>T	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.1078A>T	chr16.hg19:g.76483753A>T	ENSP00000417628:p.Met360Leu	1					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L	p.M360L			1	2	3	2.195832	Q9C0A0	CNTP4_HUMAN		6	1217	+			E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	0	1	hg19	c.1078A>T		1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625272	0.28889	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.77877	-1.13;-1.13	5.43	3.1	0.35709	5.43	3.1	0.35709	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.56746	0.2006	.	.	.	0.26725	N	0.970691	B;B;B	0.16396	0.008;0.004;0.017	B;B;B	0.19391	0.012;0.017;0.025	T	0.34428	-0.9829	9	0.19590	T	0.45	.	1.6134	0.02698	0.5569:0.1547:0.1396:0.1489	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	L	356;360	ENSP00000306893:M356L;ENSP00000417628:M360L	ENSP00000306893:M356L	M	+	1	0	0	CNTNAP4	75041254	75041254	0.032000	0.19561	0.033000	0.17914	0.088000	0.18126	1.286000	0.33273	0.447000	0.26695	-0.336000	0.08194	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-15.106780	1	0.170000	NM_033401			8	8		61	61	1		1			0	0	17	0		9.908313e-01	0	0	0	0	0	0	8	61
MON1B	22879	broad.mit.edu	37	16	77228783	77228783	+	Silent	SNP	C	C	T	rs533041353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000248248.3	+	4	1377	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_ENST00000439557.2_Silent_p.L234L|MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	343										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637																																						ENST00000248248.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1027-1029)Ctg>Ttg		MON1 secretory trafficking family member B							99.0	102.0	101.0					16																	77228783		2198	4300	6498	SO:0001819	synonymous_variant	22879	7	121412	43				g.chr16:77228783C>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1027C>T	chr16.hg19:g.77228783C>T		1					MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.L234L	p.L343L	NM_014940.2	NP_055755.1	1	2	3	2.195832	Q7L1V2	MON1B_HUMAN		4	1377	+			B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	1	1	hg19	c.1027C>T	CCDS10925.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	1	0	0		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_014940			121	120		624	610	0		1	1		0	0	135	0		1	9.999999e-01	0	29	0	90	0	121	624
MON1B	22879	broad.mit.edu	37	16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000248248.3	+	4	1401	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_ENST00000439557.2_Missense_Mutation_p.L242M|MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	351										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637																																						ENST00000248248.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1051-1053)Ctg>Atg		MON1 secretory trafficking family member B							92.0	94.0	93.0					16																	77228807		2198	4300	6498	SO:0001583	missense	22879	0	0					g.chr16:77228807C>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1051C>A	chr16.hg19:g.77228807C>A	ENSP00000248248:p.Leu351Met	1					MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M	p.L351M	NM_014940.2	NP_055755.1	1	2	3	2.195832	Q7L1V2	MON1B_HUMAN		4	1401	+			B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	1	1	hg19	c.1051C>A	CCDS10925.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248251	0.59103	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.53	3.49	0.39957	4.53	3.49	0.39957	.	0.145145	0.44688	D	0.000439	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.994	D;D;D;D	0.70935	0.94;0.971;0.964;0.94	T	0.66586	-0.5886	9	0.39692	T	0.17	.	10.4658	0.44607	0.0:0.6801:0.3198:0.0	.	205;242;231;351	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	M	351;242;205	.	ENSP00000248248:L351M	L	+	1	2	2	MON1B	75786308	75786308	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	0.901000	0.28445	2.456000	0.83038	0.563000	0.77884	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	0	0	0		18	6	2	1		1	1	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_014940			168	166		464	458	1		1	1		1	0	120	0		1	1	0	61	0	80	0	168	464
ADAMTS18	170692	broad.mit.edu	37	16	77323306	77323306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1135	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532																																						ENST00000282849.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(3403-3405)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 18							61.0	65.0	63.0					16																	77323306		2198	4300	6498	SO:0001819	synonymous_variant	170692	1	121412	30				g.chr16:77323306G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3405C>T	chr16.hg19:g.77323306G>A		1					RP11-538I12.3_ENST00000561672.1_RNA	p.C1135C	NM_199355.2	NP_955387.1	1	2	3	2.195832	Q8TE60	ATS18_HUMAN		22	3823	-			Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	1	1	hg19	c.3405C>T	CCDS10926.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				125	121		366	358	0		1	0		0	0	71	0		1	1.631350e-01	0	0	0	3	0	125	366
ADAMTS18	170692	broad.mit.edu	37	16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537																																						ENST00000282849.5	0.640000	0.130000	4.900000e-01	2.200000e-01	0.330000	0.359821	0.330000	0.310000																										0				118						c.(2992-2994)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							87.0	70.0	76.0					16																	77328833		2198	4300	6498	SO:0001583	missense	170692	0	0					g.chr16:77328833C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2993G>A	chr16.hg19:g.77328833C>T	ENSP00000282849:p.Gly998Glu	1						p.G998E	NM_199355.2	NP_955387.1	1	2	3	2.195832	Q8TE60	ATS18_HUMAN		19	3411	-			Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	0	1	hg19	c.2993G>A	CCDS10926.1	0	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550931	0.65311	.	.	ENSG00000140873	ENST00000282849	T	0.63417	-0.04	5.79	4.84	0.62591	5.79	4.84	0.62591	.	0.119417	0.56097	D	0.000025	T	0.78266	0.4256	M	0.81341	2.54	0.40781	D	0.983175	D;D	0.67145	0.996;0.986	D;D	0.69824	0.966;0.955	T	0.79806	-0.1648	10	0.39692	T	0.17	.	13.9284	0.63978	0.0:0.9275:0.0:0.0725	.	998;998	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	E	998	ENSP00000282849:G998E	ENSP00000282849:G998E	G	-	2	0	0	ADAMTS18	75886334	75886334	1.000000	0.71417	0.655000	0.29622	0.606000	0.37113	7.202000	0.77856	1.454000	0.47793	0.655000	0.94253	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	0	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-7.320661	1	0.170000				6	6		237	233	0		1	0		0	0	32	0		9.636937e-01	0	0	0	0	1	0	6	237
ADAMTS18	170692	broad.mit.edu	37	16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	463	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458																																						ENST00000282849.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(1387-1389)cCc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							141.0	121.0	128.0					16																	77389909		2198	4300	6498	SO:0001583	missense	170692	0	0					g.chr16:77389909G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1388C>T	chr16.hg19:g.77389909G>A	ENSP00000282849:p.Pro463Leu	1						p.P463L	NM_199355.2	NP_955387.1	1	2	3	2.195832	Q8TE60	ATS18_HUMAN		9	1806	-			Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	1	1	hg19	c.1388C>T	CCDS10926.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097467	0.76870	.	.	ENSG00000140873	ENST00000282849	T	0.03441	3.93	5.19	5.19	0.71726	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.986;0.995	T	0.44190	-0.9344	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	463;463	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	463	ENSP00000282849:P463L	ENSP00000282849:P463L	P	-	2	0	0	ADAMTS18	75947410	75947410	1.000000	0.71417	0.828000	0.32881	0.312000	0.27988	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-8.960443	1	0.170000				137	134		329	323	1		1			0	0	89	0		1	0	0	0	0	0	0	137	329
ADAMTS18	170692	broad.mit.edu	37	16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	281					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478																																						ENST00000282849.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(841-843)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							81.0	77.0	78.0					16																	77398216		2198	4300	6498	SO:0001587	stop_gained	170692	1	121412	28				g.chr16:77398216G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.841C>T	chr16.hg19:g.77398216G>A	ENSP00000282849:p.Arg281*	1						p.R281*	NM_199355.2	NP_955387.1	1	2	3	2.195832	Q8TE60	ATS18_HUMAN		5	1259	-			Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	0	1	hg19	c.841C>T	CCDS10926.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.521404	0.97633	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	0.466	0.16716	5.17	0.466	0.16716	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3354	0.74247	0.0:0.0:0.2693:0.7307	.	.	.	.	X	281	.	ENSP00000282849:R281X	R	-	1	2	2	ADAMTS18	75955717	75955717	0.004000	0.15560	0.823000	0.32752	0.966000	0.64601	0.095000	0.15127	0.251000	0.21505	-0.282000	0.10007	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-6.000823	1	0.170000				88	86		243	239	1		1	0		0	0	50	0		1	0	0	0	0	1	0	88	243
CCDC78	124093	broad.mit.edu	37	16	775563	775563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	95					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667																																						ENST00000293889.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(283-285)agC>agT		coiled-coil domain containing 78							38.0	38.0	38.0					16																	775563		2190	4296	6486	SO:0001819	synonymous_variant	124093	0	0					g.chr16:775563G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.285C>T	chr16.hg19:g.775563G>A		0					HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	p.S95S	NM_001031737.2	NP_001026907.2	1	2	3	2.056757	A2IDD5	CCD78_HUMAN		4	390	-		Hepatocellular(780;0.0218)	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	1	1	hg19	c.285C>T	CCDS32353.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_173476			45	45		186	184	1		1	1		0	0	50	0		1	6.113770e-01	0	2	0	8	0	45	186
ADAMTS18	170692	broad.mit.edu	37	16	77401620	77401620	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	166					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468																																						ENST00000282849.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(496-498)Tca>Gca		ADAM metallopeptidase with thrombospondin type 1 motif, 18							97.0	89.0	92.0					16																	77401620		2198	4300	6498	SO:0001630	splice_region_variant	170692	0	0					g.chr16:77401620A>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.496-1T>G	chr16.hg19:g.77401620A>C		1					ADAMTS18_ENST00000567121.1_5'UTR	p.S166A	NM_199355.2	NP_955387.1	1	2	3	2.195832	Q8TE60	ATS18_HUMAN		4	914	-			Q6P4R5|Q6ZWJ9	Splice_Site	SNP	ENST00000282849.5	1	0	hg19	c.496T>G	CCDS10926.1	1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781749	0.31502	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	4.72	3.62	0.41486	4.72	3.62	0.41486	Peptidase M12B, propeptide (1);	0.157146	0.44902	D	0.000408	T	0.04998	0.0134	L	0.33485	1.01	0.41481	D	0.988164	B	0.12013	0.005	B	0.18263	0.021	T	0.30060	-0.9991	10	0.09843	T	0.71	.	10.0528	0.42225	0.8493:0.0:0.0:0.1507	.	166	Q8TE60	ATS18_HUMAN	A	166	ENSP00000282849:S166A;ENSP00000392540:S166A	ENSP00000282849:S166A	S	-	1	0	0	ADAMTS18	75959121	75959121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.863000	0.56016	0.813000	0.34350	0.454000	0.30748	TCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		97	95		314	310	1		1	0		0	0	73	0		1	0	0	0	0	1	0	97	314
VAT1L	57687	broad.mit.edu	37	16	77850827	77850827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	81							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGATTAAACTTCATTGACT	0.428																																						ENST00000302536.2	0.690000	0.260000	5.700000e-01	3.400000e-01	0.440000	0.463863	0.440000	0.450000																										0				24						c.(241-243)aaC>aaT		vesicle amine transport 1-like							103.0	97.0	99.0					16																	77850827		2198	4300	6498	SO:0001819	synonymous_variant	57687	1	121412	31				g.chr16:77850827C>T	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.243C>T	chr16.hg19:g.77850827C>T		1						p.N81N	NM_020927.1	NP_065978.1	1	2	3	2.195832	Q9HCJ6	VAT1L_HUMAN		2	396	+			Q8IYW8	Silent	SNP	ENST00000302536.2	1	1	hg19	c.243C>T	CCDS32492.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-14.780910	1	0.170000	NM_020927			15	14		420	414	0		1	0		0	0	75	0		9.998603e-01	3.376744e-02	0	0	0	8	0	15	420
NARFL	64428	broad.mit.edu	37	16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000251588.2	-	5	515	c.499C>T	c.(499-501)Cga>Tga	p.R167*	NARFL_ENST00000301694.5_Silent_p.S122S|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*|HAGHL_ENST00000569604.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	167					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACAAACTCTCGCTGGCTCTCC	0.647																																						ENST00000251588.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(499-501)Cga>Tga		nuclear prelamin A recognition factor-like							72.0	71.0	71.0					16																	784812		2200	4300	6500	SO:0001587	stop_gained	64428	2	121324	35				g.chr16:784812G>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.499C>T	chr16.hg19:g.784812G>A	ENSP00000251588:p.Arg167*	0					NARFL_ENST00000301694.5_Silent_p.S122S|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*	p.R167*	NM_022493.1	NP_071938.1	1	2	3	2.056757	Q9H6Q4	NARFL_HUMAN		5	515	-		Hepatocellular(780;0.0218)	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Nonsense_Mutation	SNP	ENST00000251588.2	0	1	hg19	c.499C>T	CCDS10425.1	1	.	.	.	.	.	.	.	.	.	.	g	40	8.095785	0.98651	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	5.48	3.47	0.39725	5.48	3.47	0.39725	.	0.111691	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-24.7795	8.8158	0.34996	0.0722:0.0:0.6566:0.2711	.	.	.	.	X	167;65	.	ENSP00000251588:R167X	R	-	1	2	2	NARFL	724813	724813	0.965000	0.33210	0.958000	0.39756	0.920000	0.55202	1.599000	0.36751	0.641000	0.30601	0.561000	0.74099	CGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_022493			96	96		363	360	1		1	1		0	0	69	0		1	9.998984e-01	0	5	0	48	0	96	363
WWOX	51741	broad.mit.edu	37	16	78149014	78149014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	124					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)			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)		ATTTCACTGGCAAAGTGGTTG	0.478																																						ENST00000566780.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(370-372)ggC>ggT		WW domain containing oxidoreductase							94.0	94.0	94.0					16																	78149014		1857	4095	5952	SO:0001819	synonymous_variant	51741	0	0					g.chr16:78149014C>T	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.372C>T	chr16.hg19:g.78149014C>T		1					WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G	p.G124G	NM_016373.2	NP_057457.1	1	2	3	2.195832	Q9NZC7	WWOX_HUMAN		4	738	+		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)	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	1	1	hg19	c.372C>T	CCDS42196.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000				142	138		431	423	1		1	1		0	0	111	0		1	9.990646e-01	0	12	0	22	0	142	431
MAF	4094	broad.mit.edu	37	16	79633021	79633021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633021C>T	ENST00000393350.1	-	1	1590	c.779G>A	c.(778-780)cGc>cAc	p.R260H	MAF_ENST00000569649.1_Missense_Mutation_p.R260H|MAF_ENST00000326043.4_Missense_Mutation_p.R260H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	260	Represses ARE-mediated transcription.				cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTCGGAGAAGCGGTCGTCGAA	0.766			T	IGH@	MM																																	ENST00000393350.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16q22-q23	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog				L	L	IGH@		MM		0				10						c.(778-780)cGc>cAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							9.0	10.0	10.0					16																	79633021		2179	4272	6451	SO:0001583	missense	4094	0	0					g.chr16:79633021C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.779G>A	chr16.hg19:g.79633021C>T	ENSP00000377019:p.Arg260His	1					MAF_ENST00000326043.4_Missense_Mutation_p.R260H|MAF_ENST00000569649.1_Missense_Mutation_p.R260H	p.R260H	NM_001031804.2	NP_001026974.1	1	2	3	2.195832	O75444	MAF_HUMAN		1	1590	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	1	0	hg19	c.779G>A	CCDS42198.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695894	0.88830	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	T;T	0.80653	-1.4;-1.4	3.73	3.73	0.42828	3.73	3.73	0.42828	Maf transcription factor (1);	0.137672	0.49916	U	0.000139	D	0.82879	0.5133	L	0.37630	1.12	0.58432	D	0.99999	D;P	0.61080	0.989;0.938	P;P	0.60886	0.88;0.454	D	0.84769	0.0766	10	0.54805	T	0.06	-26.8111	15.5414	0.76052	0.0:1.0:0.0:0.0	.	260;260	O75444;O75444-1	MAF_HUMAN;.	H	260	ENSP00000327048:R260H;ENSP00000377019:R260H	ENSP00000327048:R260H	R	-	2	0	0	MAF	78190522	78190522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.299000	0.78831	1.806000	0.52798	0.442000	0.29010	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.766	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000				25	23		64	62	0		1	1		0	0	16	0		9.999999e-01	9.999965e-01	0	5	0	56	0	25	64
MAF	4094	broad.mit.edu	37	16	79633438	79633438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	ENST00000393350.1	-	1	1173	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_ENST00000569649.1_Missense_Mutation_p.S121N|MAF_ENST00000326043.4_Missense_Mutation_p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	121					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GAGCTGGTGGCTGTTGCTGAT	0.736			T	IGH@	MM																																	ENST00000393350.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998848	0.990000	1.000000				Dom	yes			Dom	yes		16	16q22-q23	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog				L	L	IGH@		MM		0				10						c.(361-363)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							4.0	4.0	4.0					16																	79633438		1804	3735	5539	SO:0001583	missense	4094	0	0					g.chr16:79633438C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.362G>A	chr16.hg19:g.79633438C>T	ENSP00000377019:p.Ser121Asn	1					MAF_ENST00000326043.4_Missense_Mutation_p.S121N|MAF_ENST00000569649.1_Missense_Mutation_p.S121N	p.S121N	NM_001031804.2	NP_001026974.1	1	2	3	2.195832	O75444	MAF_HUMAN		1	1173	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	0	1	hg19	c.362G>A	CCDS42198.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384905	0.25031	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	3.01	2.0	0.26442	3.01	2.0	0.26442	.	0.104535	0.64402	D	0.000003	D	0.93562	0.7945	L	0.32530	0.975	0.32007	N	0.602629	B;P	0.36535	0.421;0.557	B;B	0.32864	0.074;0.154	D	0.91611	0.5303	10	0.31617	T	0.26	.	11.5877	0.50929	0.0:0.8167:0.1833:0.0	.	121;121	O75444;O75444-1	MAF_HUMAN;.	N	121	ENSP00000327048:S121N;ENSP00000377019:S121N	ENSP00000327048:S121N	S	-	2	0	0	MAF	78190939	78190939	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.998000	0.49465	0.554000	0.29061	0.638000	0.83543	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.880480	1	0.170000				8	8		33	33	0		1	0		0	0	12	0		9.918790e-01	9.550661e-01	0	0	0	26	0	8	33
MAF	4094	broad.mit.edu	37	16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000569649.1_Missense_Mutation_p.S65N|MAF_ENST00000326043.4_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	65					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682			T	IGH@	MM																																	ENST00000393350.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000				Dom	yes			Dom	yes		16	16q22-q23	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog				L	L	IGH@		MM		0				10						c.(193-195)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							16.0	19.0	18.0					16																	79633606		2193	4298	6491	SO:0001583	missense	4094	0	0					g.chr16:79633606C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.194G>A	chr16.hg19:g.79633606C>T	ENSP00000377019:p.Ser65Asn	1					MAF_ENST00000326043.4_Missense_Mutation_p.S65N|MAF_ENST00000569649.1_Missense_Mutation_p.S65N	p.S65N	NM_001031804.2	NP_001026974.1	1	2	3	2.195832	O75444	MAF_HUMAN		1	1005	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	1	1	hg19	c.194G>A	CCDS42198.1	1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340061	0.60963	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98835	-5.17;-5.14	4.11	4.11	0.48088	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.99360	1.0917	10	0.49607	T	0.09	-6.6173	15.9937	0.80225	0.0:1.0:0.0:0.0	.	65;65	O75444;O75444-1	MAF_HUMAN;.	N	65	ENSP00000327048:S65N;ENSP00000377019:S65N	ENSP00000327048:S65N	S	-	2	0	0	MAF	78191107	78191107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.830000	0.53286	0.638000	0.83543	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				29	29		156	154	0		1	0		0	0	26	0		1	9.992065e-01	0	0	0	63	0	29	156
CDYL2	124359	broad.mit.edu	37	16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	129						nucleus (GO:0005634)	catalytic activity (GO:0003824)			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						GGTGGCCCTGTCACCTCCTGA	0.542																																						ENST00000570137.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(385-387)gAc>gGc		chromodomain protein, Y-like 2							81.0	84.0	83.0					16																	80718665		2203	4300	6503	SO:0001583	missense	124359	0	0					g.chr16:80718665T>C	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.386A>G	chr16.hg19:g.80718665T>C	ENSP00000476295:p.Asp129Gly	1					CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G	p.D129G	NM_152342.2	NP_689555.2	1	2	3	2.195832	Q8N8U2	CDYL2_HUMAN		2	541	-			Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	1	1	hg19	c.386A>G	CCDS32493.1	1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345323	0.24426	.	.	ENSG00000166446	ENST00000299564	T	0.56776	0.44	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.432209	0.23830	N	0.044141	T	0.46405	0.1391	N	0.14661	0.345	0.46542	D	0.999092	D	0.58620	0.983	P	0.55222	0.771	T	0.30679	-0.9970	10	0.12430	T	0.62	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	129	Q8N8U2	CDYL2_HUMAN	G	129	ENSP00000299564:D129G	ENSP00000299564:D129G	D	-	2	0	0	CDYL2	79276166	79276166	1.000000	0.71417	0.987000	0.45799	0.061000	0.15899	4.807000	0.62576	2.154000	0.67381	0.482000	0.46254	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_152342			79	76		339	333	1		1	1		0	0	70	0		1	7.723504e-01	0	2	0	12	0	79	339
CDYL2	124359	broad.mit.edu	37	16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus (GO:0005634)	catalytic activity (GO:0003824)			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						GACGGGCCTCGACTGTCACGC	0.522																																						ENST00000570137.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(244-246)Cga>Tga		chromodomain protein, Y-like 2							111.0	94.0	100.0					16																	80718807		2203	4300	6503	SO:0001587	stop_gained	124359	0	0					g.chr16:80718807G>A	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.244C>T	chr16.hg19:g.80718807G>A	ENSP00000476295:p.Arg82*	1					CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*	p.R82*	NM_152342.2	NP_689555.2	1	2	3	2.195832	Q8N8U2	CDYL2_HUMAN		2	399	-			Q7Z5I8	Nonsense_Mutation	SNP	ENST00000570137.2	0	1	hg19	c.244C>T	CCDS32493.1	1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819058	0.50633	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.23	4.27	0.50696	5.23	4.27	0.50696	.	0.259870	0.33235	N	0.005121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7971	0.57565	0.0:0.0:0.8366:0.1634	.	.	.	.	X	82	.	ENSP00000299564:R82X	R	-	1	2	2	CDYL2	79276308	79276308	1.000000	0.71417	0.231000	0.23993	0.080000	0.17528	2.062000	0.41413	1.407000	0.46875	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.419460	1	0.170000	NM_152342			76	73		339	335	1		1	1		0	0	60	0		1	5.735472e-01	0	2	0	8	0	76	339
ATMIN	23300	broad.mit.edu	37	16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000299575.4	+	4	1043	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	340	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522																																						ENST00000299575.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1018-1020)gCt>gAt		ATM interactor							56.0	57.0	56.0					16																	81077122		2202	4300	6502	SO:0001583	missense	23300	0	0					g.chr16:81077122C>A	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.1019C>A	chr16.hg19:g.81077122C>A	ENSP00000299575:p.Ala340Asp	1					ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D	p.A340D	NM_015251.2	NP_056066.2	1	2	3	2.195832	O43313	ATMIN_HUMAN		4	1043	+			A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	1	1	hg19	c.1019C>A	CCDS32494.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821537	0.50633	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02974	4.09	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.210337	0.49916	D	0.000122	T	0.07188	0.0182	M	0.65975	2.015	0.39799	D	0.972549	P	0.50272	0.933	B	0.41860	0.368	T	0.03231	-1.1058	10	0.87932	D	0	-14.4784	20.3539	0.98825	0.0:1.0:0.0:0.0	.	340	O43313	ATMIN_HUMAN	D	340;111	ENSP00000299575:A340D	ENSP00000299575:A340D	A	+	2	0	0	ATMIN	79634623	79634623	1.000000	0.71417	0.353000	0.25747	0.064000	0.16182	7.262000	0.78410	2.826000	0.97356	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-6.327677	1	0.170000	NM_015251			133	129		388	384	1		1	1		0	0	78	0		1	1	0	44	0	51	0	133	388
ATMIN	23300	broad.mit.edu	37	16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000299575.4	+	4	1947	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	641					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493																																						ENST00000299575.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1921-1923)ttC>ttA		ATM interactor							46.0	49.0	48.0					16																	81078026		2202	4300	6502	SO:0001583	missense	23300	0	0					g.chr16:81078026C>A	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.1923C>A	chr16.hg19:g.81078026C>A	ENSP00000299575:p.Phe641Leu	1					ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L	p.F641L	NM_015251.2	NP_056066.2	1	2	3	2.195832	O43313	ATMIN_HUMAN		4	1947	+			A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	1	1	hg19	c.1923C>A	CCDS32494.1	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508707	0.44660	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39229	1.09	6.17	1.43	0.22495	6.17	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.37630	1.12	0.49051	D	0.999743	D	0.76494	0.999	D	0.80764	0.994	T	0.47873	-0.9083	10	0.87932	D	0	-26.8835	10.0453	0.42184	0.0:0.6098:0.0:0.3902	.	641	O43313	ATMIN_HUMAN	L	641;412	ENSP00000299575:F641L	ENSP00000299575:F641L	F	+	3	2	2	ATMIN	79635527	79635527	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.136000	0.31467	0.430000	0.26230	0.655000	0.94253	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_015251			65	65		328	322	1		1	1		0	0	81	0		1	1	0	44	0	159	0	65	328
C16orf46	123775	broad.mit.edu	37	16	81097352	81097352	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000299578.5	-	3	444	c.209C>T	c.(208-210)gCa>gTa	p.A70V	C16orf46_ENST00000378611.4_Splice_Site_p.A70V|C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368																																						ENST00000299578.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(208-210)gCa>gTa		chromosome 16 open reading frame 46							144.0	135.0	138.0					16																	81097352		2202	4300	6502	SO:0001630	splice_region_variant	123775	0	0					g.chr16:81097352G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.210+1C>T	chr16.hg19:g.81097352G>A		1					C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000378611.4_Splice_Site_p.A70V|RP11-303E16.8_ENST00000564536.1_RNA	p.A70V	NM_152337.2	NP_689550.2	1	2	3	2.195832	Q6P387	CP046_HUMAN		3	444	-			Q96MA7	Splice_Site	SNP	ENST00000299578.5	1	0	hg19	c.209C>T	CCDS10932.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724517	0.68959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.27890	1.64;1.64	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.47655	0.1457	L	0.36672	1.1	0.45403	D	0.998388	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	16.9976	0.86372	0.0:0.0:1.0:0.0	.	70;70	Q6P387-2;Q6P387	.;CP046_HUMAN	V	70	ENSP00000367874:A70V;ENSP00000299578:A70V	ENSP00000299578:A70V	A	-	2	0	0	C16orf46	79654853	79654853	1.000000	0.71417	0.999000	0.59377	0.234000	0.25298	5.178000	0.65037	2.822000	0.97130	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_152337	Missense_Mutation		109	105		311	302	1		1	1		0	0	70	0		1	6.566116e-01	0	5	0	3	0	109	311
PKD1L2	114780	broad.mit.edu	37	16	81164153	81164153	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000534142.1	-	0	342				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAGCCCCTGGTGAAGCTGTG	0.592																																						ENST00000534142.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998790	0.990000	1.000000																										0				44								polycystic kidney disease 1-like 2							44.0	50.0	48.0					16																	81164153		2000	4171	6171			114780	0	0					g.chr16:81164153G>A	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		chr16.hg19:g.81164153G>A		1					PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA				1	2	3	2.195832	Q7Z442	PK1L2_HUMAN		0	342	-			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	0	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.973460	1	0.170000				12	12		66	63	0		1	0		0	0	19	0		9.992009e-01	2.808642e-02	0	1	0	1	0	12	66
PKD1L2	114780	broad.mit.edu	37	16	81181859	81181859	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000525539.1	-	0	4856				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)			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						CGACCCGGGGACGGGTGTTCT	0.572																																						ENST00000525539.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44								polycystic kidney disease 1-like 2							54.0	55.0	54.0					16																	81181859		1873	4111	5984			114780	0	0					g.chr16:81181859A>C	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		chr16.hg19:g.81181859A>C		1					PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	1	2	3	2.195832	Q7Z442	PK1L2_HUMAN		0	4856	-			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				54	54		253	249	0		1	0		0	0	61	0		1	0	0	0	0	1	0	54	253
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	RNA	SNP	C	C	T	rs372988572	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000525539.1	-	0	4647				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.V1550F(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						ACCCTCTGGACGCGGGTGAAG	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18217	0.0		0.0	False		,,,				2504	0.001					ENST00000525539.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V1550F(1)	kidney(1)	44								polycystic kidney disease 1-like 2		C	ILE/VAL	3,3935		0,3,1966	41.0	43.0	42.0		4648	4.4	0.4	16		42	0,8306		0,0,4153	no	missense	PKD1L2	NM_052892.3	29	0,3,6119	TT,TC,CC		0.0,0.0762,0.0245	probably-damaging	1550/2460	81183400	3,12241	1969	4153	6122			114780	7	120898	37				g.chr16:81183400C>T	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		chr16.hg19:g.81183400C>T		1					PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	1	2	3	2.195832	Q7Z442	PK1L2_HUMAN		0	4647	-			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				42	40		144	140	0		1			0	0	42	0		1	0	0	0	0	0	0	42	144
PKD1L2	114780	broad.mit.edu	37	16	81198334	81198334	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000525539.1	-	0	3259				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)			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						GTCTGCGGCATCAGGGCGCAG	0.597																																						ENST00000525539.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44								polycystic kidney disease 1-like 2							53.0	62.0	59.0					16																	81198334		2168	4273	6441			114780	0	0					g.chr16:81198334T>G	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		chr16.hg19:g.81198334T>G		1					PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	1	2	3	2.195832	Q7Z442	PK1L2_HUMAN		0	3259	-			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	0	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				94	91		273	269	0		1			0	0	59	0		1	0	0	0	0	0	0	94	273
PKD1L2	114780	broad.mit.edu	37	16	81248637	81248637	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000525539.1	-	0	625				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)			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						CTTGACGTTGGCCCAGCTGCA	0.627											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000525539.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998601	0.990000	1.000000																										0				44								polycystic kidney disease 1-like 2							16.0	20.0	19.0					16																	81248637		2034	4180	6214			114780	0	0					g.chr16:81248637G>A	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		chr16.hg19:g.81248637G>A		1		OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1204	PKD1L2_ENST00000337114.4_RNA		NM_052892.3	NP_443124.3	1	2	3	2.195832	Q7Z442	PK1L2_HUMAN		0	625	-			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	0	0	hg19			1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004989	0.00431	.	.	ENSG00000166473	ENST00000337114	T	0.17691	2.26	4.77	-1.65	0.08291	4.77	-1.65	0.08291	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.791308	0.11216	N	0.587175	T	0.06280	0.0162	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	9	0.02654	T	1	-0.0759	10.4722	0.44644	0.5602:0.0:0.4398:0.0	.	209;209	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	209	ENSP00000337397:A209V	ENSP00000337397:A209V	A	-	2	0	0	PKD1L2	79806138	79806138	0.044000	0.20184	0.001000	0.08648	0.018000	0.09664	0.949000	0.29109	-0.709000	0.05008	-0.781000	0.03364	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.552460	1	0.170000				11	11		59	58	1		1			0	0	11	0		9.986880e-01	0	0	0	0	0	0	11	59
BCO1	53630	broad.mit.edu	37	16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398																																						ENST00000258168.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(475-477)gaT>gaG									146.0	130.0	135.0					16																	81298250		2202	4300	6502	SO:0001583	missense	0	0	0					g.chr16:81298250T>G																												ENST00000258168.2:c.477T>G	chr16.hg19:g.81298250T>G	ENSP00000258168:p.Asp159Glu	1					BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	p.D159E	NM_017429.2	NP_059125.2	1	2	3	2.195832				5	938	+				Missense_Mutation	SNP	ENST00000258168.2	1	1	hg19	c.477T>G	CCDS10934.1	1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273056	0.59649	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95656	-3.77;-3.77	4.71	3.61	0.41365	4.71	3.61	0.41365	.	0.365800	0.33834	N	0.004502	D	0.96790	0.8952	M	0.85197	2.74	0.42593	D	0.99325	D;D	0.63880	0.993;0.96	D;P	0.63283	0.913;0.856	D	0.95147	0.8269	10	0.39692	T	0.17	-14.6836	7.3337	0.26596	0.0:0.2278:0.0:0.7722	.	90;159	E7EM88;Q9HAY6	.;BCDO1_HUMAN	E	159;90	ENSP00000258168:D159E;ENSP00000400586:D90E	ENSP00000258168:D159E	D	+	3	2	2	BCMO1	79855751	79855751	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.050000	0.30404	0.761000	0.33130	0.449000	0.29647	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000				159	156		424	420	1		1	1		0	0	97	0		1	9.946189e-01	0	14	0	10	0	159	424
BCO1	53630	broad.mit.edu	37	16	81303878	81303878	+	Missense_Mutation	SNP	G	G	A	rs570126506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81303878G>A	ENST00000258168.2	+	7	1419	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	NM_017429.2	NP_059125.2												p.V320M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CGGCTGCATCGTGTTTGACGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18977	0.0		0.0	False		,,,				2504	0.001					ENST00000258168.2	0.450000	0.140000	3.700000e-01	2.000000e-01	0.270000	0.289455	0.270000	0.270000																										1	Substitution - Missense(1)	p.V320M(1)	large_intestine(1)	23						c.(958-960)Gtg>Atg									186.0	137.0	154.0					16																	81303878		2202	4300	6502	SO:0001583	missense	0	11	121412	43				g.chr16:81303878G>A																												ENST00000258168.2:c.958G>A	chr16.hg19:g.81303878G>A	ENSP00000258168:p.Val320Met	1					BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	p.V320M	NM_017429.2	NP_059125.2	1	2	3	2.195832				7	1419	+				Missense_Mutation	SNP	ENST00000258168.2	0	1	hg19	c.958G>A	CCDS10934.1	0	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881124	0.33255	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.96232	-3.95;-3.95	5.62	-2.09	0.07232	5.62	-2.09	0.07232	.	0.432303	0.24076	N	0.041767	D	0.94571	0.8251	M	0.79343	2.45	0.37085	D	0.899185	D;P	0.63046	0.992;0.875	P;B	0.44897	0.463;0.344	D	0.92091	0.5680	10	0.62326	D	0.03	-4.5565	9.1771	0.37118	0.1574:0.1476:0.6236:0.0714	.	251;320	E7EM88;Q9HAY6	.;BCDO1_HUMAN	M	320;251	ENSP00000258168:V320M;ENSP00000400586:V251M	ENSP00000258168:V320M	V	+	1	0	0	BCMO1	79861379	79861379	0.000000	0.05858	0.198000	0.23420	0.306000	0.27790	-0.226000	0.09139	-0.197000	0.10350	-0.171000	0.13296	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1	0	0	1		20	2	2	0		0	1	93		93	92	1	2.060000	-3.202060	1	0.170000				12	12		556	548	0		0	0		0	0	93	0		9.629566e-02	5.271735e-02	0	0	0	16	0	12	556
GAN	8139	broad.mit.edu	37	16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000568107.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(208-210)Act>Gct		gigaxonin							118.0	110.0	113.0					16																	81385228		2202	4300	6502	SO:0001583	missense	8139	0	0					g.chr16:81385228A>G	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.208A>G	chr16.hg19:g.81385228A>G	ENSP00000476795:p.Thr70Ala	1						p.T70A	NM_022041.3	NP_071324.1	1	2	3	2.195832	Q9H2C0	GAN_HUMAN		2	370	+		Colorectal(91;0.153)		Missense_Mutation	SNP	ENST00000568107.2	1	1	hg19	c.208A>G	CCDS10935.1	1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239798	0.10023	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.88	5.88	0.94601	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197356	0.53938	D	0.000046	T	0.46347	0.1388	N	0.04297	-0.235	0.37084	D	0.899104	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.29301	T	0.29	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	70	Q9H2C0	GAN_HUMAN	A	70	ENSP00000248272:T70A	ENSP00000248272:T70A	T	+	1	0	0	GAN	79942729	79942729	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.246000	0.74042	0.533000	0.62120	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				103	102		286	284	1		1	0		0	0	103	0		1	5.010283e-01	0	1	0	5	0	103	286
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000568107.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(871-873)gCg>gTg		gigaxonin							182.0	162.0	169.0					16																	81391435		2202	4300	6502	SO:0001583	missense	8139	1	121412	37				g.chr16:81391435C>T	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.872C>T	chr16.hg19:g.81391435C>T	ENSP00000476795:p.Ala291Val	1						p.A291V	NM_022041.3	NP_071324.1	1	2	3	2.195832	Q9H2C0	GAN_HUMAN		5	1034	+		Colorectal(91;0.153)		Missense_Mutation	SNP	ENST00000568107.2	1	1	hg19	c.872C>T	CCDS10935.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	0	GAN	79948936	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	1	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-3.222118	1	0.170000				134	132		724	708	1		1	1		0	0	148	0		1	4.240272e-01	0	3	0	6	0	134	724
MSLN	10232	broad.mit.edu	37	16	814919	814919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000382862.3	+	7	488	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000566549.1_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	131					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687																																						ENST00000382862.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(391-393)ttC>ttT		mesothelin							23.0	24.0	23.0					16																	814919		2177	4287	6464	SO:0001819	synonymous_variant	10232	0	0					g.chr16:814919C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.393C>T	chr16.hg19:g.814919C>T		0					MSLN_ENST00000566549.1_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F	p.F131F	NM_013404.4	NP_037536.2	1	2	3	2.056757	Q13421	MSLN_HUMAN		7	488	+		Hepatocellular(780;0.00335)	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	1	1	hg19	c.393C>T	CCDS32356.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000				32	32		109	109	0		1	1		0	0	19	0		1	1	0	209	0	392	0	32	109
GAN	8139	broad.mit.edu	37	16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	492					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000568107.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1474-1476)Tcc>Ccc		gigaxonin							237.0	211.0	220.0					16																	81399055		2201	4300	6501	SO:0001583	missense	8139	0	0					g.chr16:81399055T>C	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.1474T>C	chr16.hg19:g.81399055T>C	ENSP00000476795:p.Ser492Pro	1					GAN_ENST00000567335.1_3'UTR	p.S492P	NM_022041.3	NP_071324.1	1	2	3	2.195832	Q9H2C0	GAN_HUMAN		9	1636	+		Colorectal(91;0.153)		Missense_Mutation	SNP	ENST00000568107.2	1	1	hg19	c.1474T>C	CCDS10935.1	1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117291	0.56505	.	.	ENSG00000127688	ENST00000248272	T	0.66099	-0.19	5.69	5.69	0.88448	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	63.454200	0.00357	N	0.000027	T	0.73822	0.3636	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.57159	-0.7859	10	0.66056	D	0.02	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	492	Q9H2C0	GAN_HUMAN	P	492	ENSP00000248272:S492P	ENSP00000248272:S492P	S	+	1	0	0	GAN	79956556	79956556	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	7.749000	0.85096	2.291000	0.77112	0.533000	0.62120	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	0	0	1		2	2	2	0		0	0	163		163	160	1	2.060000	-20.000000	1	0.170000				194	191		647	625	1		1	1		0	0	163	0		1	7.588760e-01	0	3	0	8	0	194	647
CMIP	80790	broad.mit.edu	37	16	81685954	81685954	+	Silent	SNP	G	G	A	rs562434205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000398040.4_Silent_p.S55S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	208						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18101	0.0		0.0	False		,,,				2504	0.001					ENST00000537098.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(622-624)tcG>tcA		c-Maf inducing protein							63.0	66.0	65.0					16																	81685954		1913	4111	6024	SO:0001819	synonymous_variant	80790	1	120846	28				g.chr16:81685954G>A	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.624G>A	chr16.hg19:g.81685954G>A		1					CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000566513.1_3'UTR	p.S208S	NM_198390.2	NP_938204.2	1	2	3	2.195832	Q8IY22	CMIP_HUMAN		4	696	+			Q9C0G9	Silent	SNP	ENST00000537098.3	1	1	hg19	c.624G>A	CCDS54044.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-9.129630	1	0.170000	NM_030629			104	100		236	233	1		1	1		0	0	66	0		1	1	0	84	0	152	0	104	236
CMIP	80790	broad.mit.edu	37	16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTTGAACGAGCTCAACGCGGG	0.587																																						ENST00000537098.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998910	0.990000	1.000000																										0				13						c.(889-891)Ctc>Ttc		c-Maf inducing protein							60.0	64.0	63.0					16																	81703810		1996	4177	6173	SO:0001583	missense	80790	0	0					g.chr16:81703810C>T	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.889C>T	chr16.hg19:g.81703810C>T	ENSP00000446100:p.Leu297Phe	1					CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000566513.1_3'UTR	p.L297F	NM_198390.2	NP_938204.2	1	2	3	2.195832	Q8IY22	CMIP_HUMAN		8	961	+			Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	1	1	hg19	c.889C>T	CCDS54044.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874812	0.72180	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.18964	0.0455	N	0.19112	0.55	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.75484	0.986;0.986;0.979	T	0.02654	-1.1128	10	0.62326	D	0.03	.	13.5913	0.61961	0.0:0.9228:0.0:0.0771	.	144;203;297	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	297;203;203;110	ENSP00000446100:L297F;ENSP00000440401:L203F	ENSP00000381120:L203F	L	+	1	0	0	CMIP	80261311	80261311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.522000	0.60539	2.298000	0.77334	0.467000	0.42956	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.971890	1	0.170000	NM_030629			12	12		65	62	1		1	1		0	0	17	0		9.991320e-01	9.999830e-01	0	34	0	95	0	12	65
CMIP	80790	broad.mit.edu	37	16	81739151	81739151	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000398040.4_Silent_p.L560L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	713						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652																																						ENST00000537098.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2137-2139)ctC>ctT		c-Maf inducing protein							46.0	50.0	49.0					16																	81739151		2027	4170	6197	SO:0001819	synonymous_variant	80790	3	120330	27				g.chr16:81739151C>T	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.2139C>T	chr16.hg19:g.81739151C>T		1					CMIP_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000566513.1_3'UTR	p.L713L	NM_198390.2	NP_938204.2	1	2	3	2.195832	Q8IY22	CMIP_HUMAN		19	2211	+			Q9C0G9	Silent	SNP	ENST00000537098.3	1	1	hg19	c.2139C>T	CCDS54044.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_030629			24	24		81	80	1		1	1		0	0	13	0		9.999999e-01	1	0	84	0	167	0	24	81
PLCG2	5336	broad.mit.edu	37	16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	483					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)			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						GAGCTGTACATGTGGGATTCC	0.587																																						ENST00000359376.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1447-1449)aTg>aCg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67.0	73.0	71.0					16																	81939093		2050	4192	6242	SO:0001583	missense	5336	0	0					g.chr16:81939093T>C		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.1448T>C	chr16.hg19:g.81939093T>C	ENSP00000352336:p.Met483Thr	1						p.M483T	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		15	1662	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	1	1	hg19	c.1448T>C	CCDS42204.1	1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703665	0.48412	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.18	5.18	0.71444	5.18	5.18	0.71444	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.043429	0.85682	D	0.000000	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.48764	0.017;0.915	B;B	0.33750	0.008;0.169	T	0.63594	-0.6602	10	0.72032	D	0.01	.	15.0501	0.71862	0.0:0.0:0.0:1.0	.	350;483	B4E3H3;P16885	.;PLCG2_HUMAN	T	483	ENSP00000352336:M483T	ENSP00000352336:M483T	M	+	2	0	0	PLCG2	80496594	80496594	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.010000	0.64004	1.964000	0.57103	0.445000	0.29226	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				56	56		132	130	1		1	1		0	0	41	0		1	1	0	28	0	62	0	56	132
PLCG2	5336	broad.mit.edu	37	16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	562	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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						TGGCACCTTCCTGGTTCGGGA	0.572																																						ENST00000359376.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1684-1686)Ctg>Atg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							71.0	79.0	76.0					16																	81942147		2035	4178	6213	SO:0001583	missense	5336	0	0					g.chr16:81942147C>A		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.1684C>A	chr16.hg19:g.81942147C>A	ENSP00000352336:p.Leu562Met	1						p.L562M	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		17	1898	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	1	1	hg19	c.1684C>A	CCDS42204.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245294	0.59103	.	.	ENSG00000197943	ENST00000359376	T	0.60672	0.17	4.72	-2.06	0.07298	4.72	-2.06	0.07298	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.081372	0.49916	D	0.000134	T	0.69024	0.3065	M	0.83692	2.655	0.54753	D	0.999986	D;P	0.59357	0.985;0.771	P;P	0.58928	0.848;0.714	T	0.71094	-0.4692	10	0.49607	T	0.09	.	11.9618	0.53013	0.0:0.5831:0.0:0.4169	.	429;562	B4E3H3;P16885	.;PLCG2_HUMAN	M	562	ENSP00000352336:L562M	ENSP00000352336:L562M	L	+	1	2	2	PLCG2	80499648	80499648	0.191000	0.23288	0.991000	0.47740	0.938000	0.57974	-0.480000	0.06559	-0.368000	0.08040	-0.251000	0.11542	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				37	37		159	153	1		1	1		0	0	30	0		1	9.999983e-01	0	22	0	71	0	37	159
MSLNL	401827	broad.mit.edu	37	16	819456	819456	+	Missense_Mutation	SNP	C	C	T	rs377582247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000442466.1	-	15	2080	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.R1045H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	694					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632																																						ENST00000442466.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2080-2082)cGc>cAc		mesothelin-like							68.0	80.0	76.0					16																	819456		2049	4192	6241	SO:0001583	missense	401827	0	0					g.chr16:819456C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.2081G>A	chr16.hg19:g.819456C>T	ENSP00000415767:p.Arg694His	0					MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.R1045H	p.R694H			1	2	3	2.056757	Q96KJ4	MSLNL_HUMAN		15	2080	-				Missense_Mutation	SNP	ENST00000442466.1	1	1	hg19	c.2081G>A		1	.	.	.	.	.	.	.	.	.	.	C	3.391	-0.124381	0.06795	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19938	2.11;2.51;2.12	2.98	-5.47	0.02600	2.98	-5.47	0.02600	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.04013	0.001	T	0.31806	-0.9930	8	0.87932	D	0	.	4.8329	0.13449	0.0:0.2008:0.3172:0.482	.	694	Q96KJ4	MSLNL_HUMAN	H	744;694;1045	ENSP00000441381:R744H;ENSP00000415767:R694H;ENSP00000293892:R1045H	ENSP00000293892:R1045H	R	-	2	0	0	MSLNL	759457	759457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.901000	0.00338	-1.098000	0.03038	-0.693000	0.03709	CGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		18	2	2	1		1	1	64		64	64	1	2.060000	-3.804081	1	0.170000	NM_001025190			74	72		281	278	1		1	0		1	0	64	0		1	1.963627e-01	0	0	0	4	0	74	281
PLCG2	5336	broad.mit.edu	37	16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A	rs367884906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	642					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)			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						CAACCCCCACGAGTCCAAGCC	0.667																																						ENST00000359376.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1924-1926)Gag>Aag		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	LYS/GLU	1,4155		0,1,2077	83.0	92.0	89.0		1924	5.0	1.0	16		89	0,8422		0,0,4211	no	missense	PLCG2	NM_002661.3	56	0,1,6288	AA,AG,GG		0.0,0.0241,0.0080	possibly-damaging	642/1266	81944315	1,12577	2078	4211	6289	SO:0001583	missense	5336	0	0					g.chr16:81944315G>A		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.1924G>A	chr16.hg19:g.81944315G>A	ENSP00000352336:p.Glu642Lys	1						p.E642K	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		18	2138	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	1	1	hg19	c.1924G>A	CCDS42204.1	1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450329	0.63290	2.41E-4	0.0	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (1);	0.194915	0.45867	D	0.000333	D	0.93383	0.7890	L	0.59436	1.845	0.43863	D	0.996463	D;P	0.64830	0.994;0.888	P;B	0.51487	0.671;0.073	D	0.93177	0.6571	10	0.49607	T	0.09	.	13.2269	0.59919	0.0:0.0:0.841:0.159	.	509;642	B4E3H3;P16885	.;PLCG2_HUMAN	K	642	ENSP00000352336:E642K	ENSP00000352336:E642K	E	+	1	0	0	PLCG2	80501816	80501816	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.682000	0.61671	2.320000	0.78422	0.491000	0.48974	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	0	0	1		2	2	2	0		0	0	201		201	195	1	2.060000	-2.267113	0	0.170000				220	218		1024	997	1		1	1		0	0	201	0		1	9.999990e-01	0	18	0	71	0	220	1024
PLCG2	5336	broad.mit.edu	37	16	81969845	81969845	+	Missense_Mutation	SNP	G	G	A	rs369090249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81969845G>A	ENST00000359376.3	+	27	3128	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	972	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)			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						ACAGAAGCCCGTCGACCTCCT	0.517																																						ENST00000359376.3	0.660000	0.180000	5.300000e-01	2.700000e-01	0.380000	0.406118	0.380000	0.360000																										0				58						c.(2914-2916)Gtc>Atc		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	ILE/VAL	0,3902		0,0,1951	75.0	78.0	77.0		2914	-2.5	0.0	16		77	1,8307		0,1,4153	no	missense	PLCG2	NM_002661.3	29	0,1,6104	AA,AG,GG		0.012,0.0,0.0082	benign	972/1266	81969845	1,12209	1951	4154	6105	SO:0001583	missense	5336	5	120878	39				g.chr16:81969845G>A		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.2914G>A	chr16.hg19:g.81969845G>A	ENSP00000352336:p.Val972Ile	1						p.V972I	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		27	3128	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	1	1	hg19	c.2914G>A	CCDS42204.1	0	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253447	0.10185	0.0	1.2E-4	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	4.79	-2.47	0.06442	4.79	-2.47	0.06442	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.908362	0.09494	N	0.794498	T	0.39886	0.1095	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.37606	T	0.19	.	8.6391	0.33966	0.276:0.2342:0.4898:0.0	.	972	P16885	PLCG2_HUMAN	I	972	ENSP00000352336:V972I	ENSP00000352336:V972I	V	+	1	0	0	PLCG2	80527346	80527346	0.000000	0.05858	0.014000	0.15608	0.122000	0.20287	0.091000	0.15046	-0.838000	0.04218	-0.311000	0.09066	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-9.736789	1	0.170000				9	9		300	299	0		1	0		0	0	55	0		9.943153e-01	8.699312e-01	0	1	0	123	0	9	300
PLCG2	5336	broad.mit.edu	37	16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1102	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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						TTCAAGACGACGGTTGTGAGT	0.512																																						ENST00000359376.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				58						c.(3304-3306)aCg>aTg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							113.0	108.0	110.0					16																	81972512		1955	4160	6115	SO:0001583	missense	5336	0	0					g.chr16:81972512C>T		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.3305C>T	chr16.hg19:g.81972512C>T	ENSP00000352336:p.Thr1102Met	1						p.T1102M	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		29	3519	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	1	1	hg19	c.3305C>T	CCDS42204.1	1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282341	0.23392	.	.	ENSG00000197943	ENST00000359376	T	0.69806	-0.43	5.39	5.39	0.77823	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309400	0.38959	N	0.001501	T	0.63522	0.2518	M	0.75447	2.3	0.09310	N	0.999994	P	0.34934	0.476	B	0.27887	0.084	T	0.64795	-0.6323	10	0.59425	D	0.04	.	12.4855	0.55871	0.0:0.9236:0.0:0.0764	.	1102	P16885	PLCG2_HUMAN	M	1102	ENSP00000352336:T1102M	ENSP00000352336:T1102M	T	+	2	0	0	PLCG2	80530013	80530013	0.233000	0.23772	0.582000	0.28627	0.660000	0.38997	1.732000	0.38146	2.517000	0.84864	0.561000	0.74099	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-12.691820	1	0.170000				18	18		87	84	1		1	1		0	0	29	0		9.999871e-01	9.999997e-01	0	20	0	129	0	18	87
MSLNL	401827	broad.mit.edu	37	16	820164	820164	+	Missense_Mutation	SNP	C	C	T	rs370742535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000442466.1	-	14	1767	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.G941S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	590					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGTCCAGGCCGAGCTGGCCC	0.721																																						ENST00000442466.1	1.000000	0.440000	1	6.800000e-01	0.990000	0.881568	0.990000	1.000000																										0				36						c.(1768-1770)Ggc>Agc		mesothelin-like			SER/GLY	0,4314		0,0,2157	11.0	13.0	13.0		2821	3.5	0.9	16		13	1,8523		0,1,4261	no	missense	MSLNL	NM_001025190.1	56	0,1,6418	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	941/1054	820164	1,12837	2157	4262	6419	SO:0001583	missense	401827	7	119190	33				g.chr16:820164C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1768G>A	chr16.hg19:g.820164C>T	ENSP00000415767:p.Gly590Ser	0					MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.G941S	p.G590S			1	2	3	2.056757	Q96KJ4	MSLNL_HUMAN		14	1767	-				Missense_Mutation	SNP	ENST00000442466.1	0	1	hg19	c.1768G>A		1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.974818	0.53720	0.0	1.17E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.22336	1.96;1.96;1.96	4.44	3.48	0.39840	4.44	3.48	0.39840	.	0.147080	0.45126	D	0.000392	T	0.16514	0.0397	.	.	.	0.31954	N	0.609335	P	0.40050	0.7	B	0.36378	0.223	T	0.15694	-1.0428	9	0.54805	T	0.06	-41.6552	10.5908	0.45308	0.0:0.8045:0.1955:0.0	.	590	Q96KJ4	MSLNL_HUMAN	S	640;590;941	ENSP00000441381:G640S;ENSP00000415767:G590S;ENSP00000293892:G941S	ENSP00000293892:G941S	G	-	1	0	0	MSLNL	760165	760165	0.988000	0.35896	0.930000	0.37139	0.005000	0.04900	0.643000	0.24750	1.215000	0.43411	0.537000	0.68136	GGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-12.114450	1	0.170000	NM_001025190			7	8		85	81	0		1			0	0	14	0		9.796993e-01	0	0	0	0	0	0	7	85
PLCG2	5336	broad.mit.edu	37	16	81979814	81979814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1172					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)			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						ATGGGTACAGCGAGGACATAG	0.488																																						ENST00000359376.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3514-3516)agC>agT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							164.0	162.0	163.0					16																	81979814		1968	4160	6128	SO:0001819	synonymous_variant	5336	8	120902	43				g.chr16:81979814C>T		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.3516C>T	chr16.hg19:g.81979814C>T		1						p.S1172S	NM_002661.3	NP_002652.2	1	2	3	2.195832	P16885	PLCG2_HUMAN		31	3730	+			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	1	1	hg19	c.3516C>T	CCDS42204.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-6.266481	1	0.170000				163	163		493	484	0		1	1		0	0	116	0		1	1	0	35	0	90	0	163	493
HSD17B2	3294	broad.mit.edu	37	16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	46					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)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GGCCTCTGTGCAGTCTGCCTG	0.512																																						ENST00000199936.4	1.000000	0.720000	1	8.900000e-01	0.990000	0.961976	0.990000	1.000000																										0				10						c.(136-138)gCa>gTa		hydroxysteroid (17-beta) dehydrogenase 2							123.0	86.0	99.0					16																	82069166		2201	4300	6501	SO:0001583	missense	3294	0	0					g.chr16:82069166C>T		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.137C>T	chr16.hg19:g.82069166C>T	ENSP00000199936:p.Ala46Val	1						p.A46V	NM_002153.2	NP_002144.1	1	2	3	2.195832	P37059	DHB2_HUMAN		1	330	+			B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	1	1	hg19	c.137C>T	CCDS10936.1	1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698495	0.30142	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.31	0.988	0.19796	5.31	0.988	0.19796	.	0.700950	0.12992	N	0.422406	T	0.67841	0.2936	N	0.22421	0.69	0.22240	N	0.999265	P	0.38335	0.627	B	0.35114	0.196	T	0.54180	-0.8332	10	0.23891	T	0.37	.	8.7751	0.34756	0.0891:0.5215:0.3895:0.0	.	46	P37059	DHB2_HUMAN	V	46	ENSP00000199936:A46V	ENSP00000199936:A46V	A	+	2	0	0	HSD17B2	80626667	80626667	0.997000	0.39634	0.982000	0.44146	0.169000	0.22640	0.538000	0.23160	0.291000	0.22468	-0.340000	0.08031	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-9.017921	1	0.170000	NM_002153			24	23		258	253	1		1	1		0	0	55	0		9.999997e-01	9.999999e-01	0	53	0	254	0	24	258
HSD17B2	3294	broad.mit.edu	37	16	82131894	82131894	+	Silent	SNP	G	G	A	rs372570633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	339					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)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CCTATTACACGCCAGGGAAAG	0.483																																						ENST00000199936.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1015-1017)acG>acA		hydroxysteroid (17-beta) dehydrogenase 2		G		0,4402		0,0,2201	163.0	142.0	149.0		1017	-11.1	0.0	16		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSD17B2	NM_002153.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		339/388	82131894	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	3294	8	121412	44				g.chr16:82131894G>A		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.1017G>A	chr16.hg19:g.82131894G>A		1					RP11-510J16.5_ENST00000567021.1_RNA	p.T339T	NM_002153.2	NP_002144.1	1	2	3	2.195832	P37059	DHB2_HUMAN		5	1210	+			B2R7T4	Silent	SNP	ENST00000199936.4	1	1	hg19	c.1017G>A	CCDS10936.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_002153			100	99		485	477	1		1	1		0	0	98	0		1	1	0	175	0	357	0	100	485
RPUSD1	113000	broad.mit.edu	37	16	836178	836178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.C237C|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.C108C			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	237					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGGGCTCCAGCAGGCATCCA	0.667																																						ENST00000561734.1	1.000000	0.340000	1	4.300000e-01	0.550000	0.616934	0.550000	0.520000																										0				7						c.(709-711)tgC>tgT		RNA pseudouridylate synthase domain containing 1							54.0	64.0	61.0					16																	836178		2200	4296	6496	SO:0001819	synonymous_variant	113000	0	0					g.chr16:836178G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.711C>T	chr16.hg19:g.836178G>A		0					RPUSD1_ENST00000007264.2_Silent_p.C237C|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.C108C|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank|CHTF18_ENST00000455171.2_5'Flank	p.C237C			1	2	3	2.056757	Q9UJJ7	RUSD1_HUMAN		5	954	-		Hepatocellular(780;0.00335)	D3DU66	Silent	SNP	ENST00000561734.1	1	1	hg19	c.711C>T	CCDS10426.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-19.995740	1	0.170000	NM_058192			23	23		508	498	1		1	1		0	0	88	0		9.999992e-01	6.813363e-01	0	5	0	48	0	23	508
RPUSD1	113000	broad.mit.edu	37	16	836310	836310	+	Silent	SNP	G	G	A	rs367977361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836310G>A	ENST00000561734.1	-	5	822	c.579C>T	c.(577-579)taC>taT	p.Y193Y	MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.Y193Y|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.Y64Y			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	193					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				AGACTTCTCCGTAGGTCAGGT	0.677																																						ENST00000561734.1	1.000000	0.160000	1	2.200000e-01	0.300000	0.418232	0.300000	0.270000																										0				7						c.(577-579)taC>taT		RNA pseudouridylate synthase domain containing 1		G		0,4400		0,0,2200	53.0	61.0	58.0		579	-5.4	0.3	16		58	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	RPUSD1	NM_058192.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		193/313	836310	2,12996	2200	4299	6499	SO:0001819	synonymous_variant	113000	4	121064	39				g.chr16:836310G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.579C>T	chr16.hg19:g.836310G>A		0					RPUSD1_ENST00000007264.2_Silent_p.Y193Y|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.Y64Y|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank|CHTF18_ENST00000455171.2_5'Flank	p.Y193Y			1	2	3	2.056757	Q9UJJ7	RUSD1_HUMAN		5	822	-		Hepatocellular(780;0.00335)	D3DU66	Silent	SNP	ENST00000561734.1	0	1	hg19	c.579C>T	CCDS10426.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	0	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-2.903361	1	0.170000	NM_058192			14	14		589	577	0		1	1		0	0	107	0		9.997199e-01	5.502116e-01	0	5	0	71	0	14	589
CDH13	1012	broad.mit.edu	37	16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000566620.1	+	6	1056	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR	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	256	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACGTCATGGAAGGGTCACC	0.507																																						ENST00000566620.1	0.680000	0.270000	5.700000e-01	3.500000e-01	0.440000	0.463903	0.440000	0.450000																										0				1						c.(766-768)Gaa>Taa		cadherin 13							106.0	106.0	106.0					16																	83378596		1980	4159	6139	SO:0001587	stop_gained	1012	0	0					g.chr16:83378596G>T	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.766G>T	chr16.hg19:g.83378596G>T	ENSP00000454435:p.Glu256*	1					CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR	p.E256*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	1	2	3	2.195832	P55290	CAD13_HUMAN		6	1056	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Nonsense_Mutation	SNP	ENST00000566620.1	0	1	hg19	c.766G>T	CCDS58486.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.332772	0.98217	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8872	0.92383	0.0:0.0:1.0:0.0	.	.	.	.	X	303;256;217	.	ENSP00000268613:E303X	E	+	1	0	0	CDH13	81936097	81936097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.822000	0.86651	2.882000	0.98803	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-15.687620	1	0.170000	NM_001257			17	17		473	461	0		1	0		0	0	103	0		9.999583e-01	4.737917e-01	0	0	0	44	0	17	473
CHTF18	63922	broad.mit.edu	37	16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000262315.9	+	4	508	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	149					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627																																						ENST00000262315.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(445-447)Gaa>Taa		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							41.0	48.0	45.0					16																	839554		2050	4184	6234	SO:0001587	stop_gained	63922	0	0					g.chr16:839554G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.445G>T	chr16.hg19:g.839554G>T	ENSP00000262315:p.Glu149*	0					RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*	p.E149*	NM_022092.2	NP_071375.1	1	2	3	2.056757	Q8WVB6	CTF18_HUMAN		4	508	+		Hepatocellular(780;0.00335)	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Nonsense_Mutation	SNP	ENST00000262315.9	0	1	hg19	c.445G>T	CCDS45371.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599175|3.599175	0.66332|0.66332	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	.|.	.|.	.|.	4.17|4.17	3.21|3.21	0.36854|0.36854	4.17|4.17	3.21|3.21	0.36854|0.36854	.|.	1.724250|.	0.02839|.	N|.	0.127711|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|3	0.06365|.	T|.	0.9|.	-14.3195|-14.3195	6.4388|6.4388	0.21839|0.21839	0.2197:0.0:0.7803:0.0|0.2197:0.0:0.7803:0.0	.|.	.|.	.|.	.|.	X|I	346;177;149|19	.|.	ENSP00000262315:E149X|.	E|R	+|+	1|2	0|0	0|0	CHTF18|CHTF18	779555|779555	779555|779555	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.817000|0.817000	0.27281|0.27281	1.093000|1.093000	0.41377|0.41377	0.549000|0.549000	0.68633|0.68633	GAA|AGA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.354859	1	0.170000	NM_022092			73	72		351	345	0		1	1		0	0	64	0		1	7.213336e-01	0	2	0	12	0	73	351
CDH13	1012	broad.mit.edu	37	16	83704532	83704532	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000566620.1	+	9	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CDH13_ENST00000268613.10_Silent_p.I460I|CDH13_ENST00000428848.3_Silent_p.I374I	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	413	Cadherin 3. {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)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517																																						ENST00000566620.1	1.000000	0.760000	1	8.600000e-01	0.990000	0.950283	0.990000	1.000000																										0				1						c.(1237-1239)atC>atT		cadherin 13							146.0	145.0	145.0					16																	83704532		1957	4143	6100	SO:0001819	synonymous_variant	1012	0	0					g.chr16:83704532C>T	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.1239C>T	chr16.hg19:g.83704532C>T		1					CDH13_ENST00000268613.10_Silent_p.I460I|CDH13_ENST00000428848.3_Silent_p.I374I	p.I413I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	1	2	3	2.195832	P55290	CAD13_HUMAN		9	1529	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	1	1	hg19	c.1239C>T	CCDS58486.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	1	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-12.822790	1	0.170000	NM_001257			57	54		677	666	0		1	0		0	0	159	0		1	9.459364e-01	0	0	0	59	0	57	677
OSGIN1	29948	broad.mit.edu	37	16	83992884	83992884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000361711.3_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000565123.1_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622																																						ENST00000343939.2	0.630000	0.250000	5.300000e-01	3.300000e-01	0.420000	0.434421	0.420000	0.420000																										0				12						c.(334-336)atC>atA		oxidative stress induced growth inhibitor 1							144.0	123.0	130.0					16																	83992884		2200	4300	6500	SO:0001819	synonymous_variant	29948	0	0					g.chr16:83992884C>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.336C>A	chr16.hg19:g.83992884C>A		1					OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I	p.I112I			1	2	3	2.195832	Q9UJX0	OSGI1_HUMAN		4	719	+			Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	1	1	hg19	c.336C>A		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.652687	1	0.170000	NM_013370			18	17		535	510	0		1	0		0	0	118	0		9.999727e-01	8.518396e-01	0	1	0	103	0	18	535
OSGIN1	29948	broad.mit.edu	37	16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	237					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612																																						ENST00000343939.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(709-711)gTc>gGc		oxidative stress induced growth inhibitor 1							67.0	68.0	68.0					16																	83994650		2200	4300	6500	SO:0001583	missense	29948	0	0					g.chr16:83994650T>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.710T>G	chr16.hg19:g.83994650T>G	ENSP00000343376:p.Val237Gly	1					OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G	p.V237G			1	2	3	2.195832	Q9UJX0	OSGI1_HUMAN		6	1093	+			Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	1	1	hg19	c.710T>G		1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333273	0.41297	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21191	2.02;2.02;2.02	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.201058	0.43110	N	0.000609	T	0.19565	0.0470	L	0.40543	1.245	0.54753	D	0.999985	B	0.12630	0.006	B	0.14578	0.011	T	0.03514	-1.1029	10	0.87932	D	0	-14.9239	13.0035	0.58690	0.0:0.0:0.0:1.0	.	237	Q9UJX0	OSGI1_HUMAN	G	237;154;154	ENSP00000343376:V237G;ENSP00000355374:V154G;ENSP00000376983:V154G	ENSP00000343376:V237G	V	+	2	0	0	OSGIN1	82552151	82552151	0.717000	0.27966	1.000000	0.80357	0.622000	0.37654	4.020000	0.57189	1.662000	0.50781	0.402000	0.26972	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_013370			70	69		328	321	1		1	1		0	0	55	0		1	9.999803e-01	0	25	0	51	0	70	328
OSGIN1	29948	broad.mit.edu	37	16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	462					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647																																						ENST00000343939.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1384-1386)Gac>Aac		oxidative stress induced growth inhibitor 1							118.0	106.0	110.0					16																	83999313		2200	4300	6500	SO:0001583	missense	29948	0	0					g.chr16:83999313G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1384G>A	chr16.hg19:g.83999313G>A	ENSP00000343376:p.Asp462Asn	1					NECAB2_ENST00000305202.4_5'Flank|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N	p.D462N			1	2	3	2.195832	Q9UJX0	OSGI1_HUMAN		7	1767	+			Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	1	1	hg19	c.1384G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913690	0.17907	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.33216	1.42;1.42;1.42	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.252505	0.41500	D	0.000867	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36553	-0.9743	10	0.22706	T	0.39	-48.3103	16.5398	0.84382	0.0:0.0:1.0:0.0	.	462	Q9UJX0	OSGI1_HUMAN	N	462;379;379	ENSP00000343376:D462N;ENSP00000355374:D379N;ENSP00000376983:D379N	ENSP00000343376:D462N	D	+	1	0	0	OSGIN1	82556814	82556814	0.995000	0.38212	0.596000	0.28811	0.226000	0.24999	4.166000	0.58203	2.140000	0.66376	0.313000	0.20887	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_013370			90	89		351	347	1		1	1		0	0	81	0		1	1	0	53	0	61	0	90	351
SLC38A8	146167	broad.mit.edu	37	16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	373					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587																																						ENST00000299709.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1117-1119)aGc>aAc		solute carrier family 38, member 8							91.0	76.0	81.0					16																	84050168		2200	4300	6500	SO:0001583	missense	146167	0	0					g.chr16:84050168C>T		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.1118G>A	chr16.hg19:g.84050168C>T	ENSP00000299709:p.Ser373Asn	1						p.S373N	NM_001080442.1	NP_001073911.1	1	2	3	2.195832	A6NNN8	S38A8_HUMAN		8	1117	-				Missense_Mutation	SNP	ENST00000299709.3	1	1	hg19	c.1118G>A	CCDS32495.1	1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522115	0.13066	.	.	ENSG00000166558	ENST00000299709	T	0.02890	4.12	4.47	2.35	0.29111	4.47	2.35	0.29111	.	0.922945	0.09335	N	0.816306	T	0.04092	0.0114	M	0.62723	1.935	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.33137	-0.9880	10	0.48119	T	0.1	.	4.7346	0.12982	0.1527:0.6074:0.149:0.0909	.	373	A6NNN8	S38A8_HUMAN	N	373	ENSP00000299709:S373N	ENSP00000299709:S373N	S	-	2	0	0	SLC38A8	82607669	82607669	0.002000	0.14202	0.300000	0.25030	0.020000	0.10135	0.893000	0.28336	2.038000	0.60285	0.478000	0.44815	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001080442			51	50		266	266	1		1	0		0	0	61	0		1	0	0	1	0	0	0	51	266
SLC38A8	146167	broad.mit.edu	37	16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	253					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCACAGACACCAGGGCCCAG	0.607																																						ENST00000299709.3	1.000000	0.760000	1	9.500000e-01	0.990000	0.976014	0.990000	1.000000																										0				26						c.(757-759)Gtg>Atg		solute carrier family 38, member 8							84.0	68.0	74.0					16																	84056428		2200	4300	6500	SO:0001583	missense	146167	0	0					g.chr16:84056428C>T		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.757G>A	chr16.hg19:g.84056428C>T	ENSP00000299709:p.Val253Met	1						p.V253M	NM_001080442.1	NP_001073911.1	1	2	3	2.195832	A6NNN8	S38A8_HUMAN		6	756	-				Missense_Mutation	SNP	ENST00000299709.3	1	1	hg19	c.757G>A	CCDS32495.1	1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141028	0.37825	.	.	ENSG00000166558	ENST00000299709	T	0.02682	4.2	5.37	3.36	0.38483	5.37	3.36	0.38483	.	0.187239	0.46758	D	0.000261	T	0.14570	0.0352	M	0.80746	2.51	0.48571	D	0.999673	D	0.67145	0.996	D	0.67231	0.95	T	0.00553	-1.1674	10	0.72032	D	0.01	.	14.7349	0.69409	0.0:0.7244:0.2756:0.0	.	253	A6NNN8	S38A8_HUMAN	M	253	ENSP00000299709:V253M	ENSP00000299709:V253M	V	-	1	0	0	SLC38A8	82613929	82613929	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	1.445000	0.35079	0.602000	0.29896	-0.326000	0.08463	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_001080442			20	19		196	195	0		1	0		0	0	42	0		9.999960e-01	0	0	1	0	0	0	20	196
SLC38A8	146167	broad.mit.edu	37	16	84056464	84056464	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056464T>C	ENST00000299709.3	-	6	720	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	241					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCGCATGCTGCAGTAGATG	0.582																																						ENST00000299709.3	0.910000	0.200000	7.000000e-01	3.200000e-01	0.480000	0.516677	0.480000	0.450000																										0				26						c.(721-723)Agc>Ggc		solute carrier family 38, member 8							75.0	58.0	63.0					16																	84056464		2200	4300	6500	SO:0001583	missense	146167	0	0					g.chr16:84056464T>C		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.721A>G	chr16.hg19:g.84056464T>C	ENSP00000299709:p.Ser241Gly	1						p.S241G	NM_001080442.1	NP_001073911.1	1	2	3	2.195832	A6NNN8	S38A8_HUMAN		6	720	-				Missense_Mutation	SNP	ENST00000299709.3	0	1	hg19	c.721A>G	CCDS32495.1	0	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523176	0.44866	.	.	ENSG00000166558	ENST00000299709	T	0.02606	4.23	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.83603	2.65	0.58432	D	0.999992	D	0.76494	0.999	D	0.70487	0.969	T	0.00373	-1.1781	10	0.51188	T	0.08	.	14.3515	0.66705	0.0:0.0:0.0:1.0	.	241	A6NNN8	S38A8_HUMAN	G	241	ENSP00000299709:S241G	ENSP00000299709:S241G	S	-	1	0	0	SLC38A8	82613965	82613965	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.278000	0.78587	2.029000	0.59856	0.448000	0.29417	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	0	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-8.941334	1	0.170000	NM_001080442			6	6		161	159	0		1			0	0	33	0		9.645219e-01	0	0	0	0	0	0	6	161
SLC38A8	146167	broad.mit.edu	37	16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	238					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567																																						ENST00000299709.3	1.000000	0.790000	1	9.900000e-01	0.990000	0.984279	0.990000	1.000000																										0				26						c.(712-714)Atc>Gtc		solute carrier family 38, member 8							72.0	55.0	61.0					16																	84056473		2200	4300	6500	SO:0001583	missense	146167	0	0					g.chr16:84056473T>C		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.712A>G	chr16.hg19:g.84056473T>C	ENSP00000299709:p.Ile238Val	1						p.I238V	NM_001080442.1	NP_001073911.1	1	2	3	2.195832	A6NNN8	S38A8_HUMAN		6	711	-				Missense_Mutation	SNP	ENST00000299709.3	1	1	hg19	c.712A>G	CCDS32495.1	1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442334	0.01089	.	.	ENSG00000166558	ENST00000299709	T	0.03860	3.78	5.37	1.73	0.24493	5.37	1.73	0.24493	.	0.174225	0.49916	N	0.000124	T	0.02929	0.0087	N	0.17838	0.53	0.47737	D	0.999505	B	0.27013	0.166	B	0.28465	0.09	T	0.50996	-0.8761	10	0.12103	T	0.63	.	7.7735	0.29023	0.0:0.2919:0.0:0.7081	.	238	A6NNN8	S38A8_HUMAN	V	238	ENSP00000299709:I238V	ENSP00000299709:I238V	I	-	1	0	0	SLC38A8	82613974	82613974	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.236000	0.32683	0.305000	0.22832	-0.384000	0.06662	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-19.999990	1	0.170000	NM_001080442			17	16		152	150	1		1			0	0	31	0		9.999693e-01	0	0	0	0	0	0	17	152
SLC38A8	146167	broad.mit.edu	37	16	84056480	84056480	+	Silent	SNP	G	G	A	rs146922664	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	235					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572													G|||	5	0.000998403	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0051					ENST00000299709.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.995697	0.990000	1.000000																										0				26						c.(703-705)gcC>gcT		solute carrier family 38, member 8		G		1,4399	2.1+/-5.4	0,1,2199	68.0	52.0	58.0		705	-10.6	0.0	16	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		235/436	84056480	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	146167	51	121408	44				g.chr16:84056480G>A		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.705C>T	chr16.hg19:g.84056480G>A		1						p.A235A	NM_001080442.1	NP_001073911.1	1	2	3	2.195832	A6NNN8	S38A8_HUMAN		6	704	-				Silent	SNP	ENST00000299709.3	0	1	hg19	c.705C>T	CCDS32495.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001080442			19	20		147	145	0		1			0	0	26	0		9.999932e-01	0	0	0	0	0	0	19	147
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522																																						ENST00000343411.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1663-1665)ttA>ttG		membrane-bound transcription factor peptidase, site 1							106.0	94.0	98.0					16																	84104310		2200	4300	6500	SO:0001819	synonymous_variant	8720	0	0					g.chr16:84104310T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1665A>G	chr16.hg19:g.84104310T>C		1					MBTPS1_ENST00000569770.1_5'Flank	p.L555L	NM_003791.2	NP_003782.1	1	2	3	2.195832	Q14703	MBTP1_HUMAN		13	2160	-			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	1	1	hg19	c.1665A>G	CCDS10941.1	1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	0	MBTPS1	82661811	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_003791			132	133		403	393	1		1	1		0	0	119	0		1	1	0	82	0	199	0	132	403
MBTPS1	8720	broad.mit.edu	37	16	84115363	84115363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567																																						ENST00000343411.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1435-1437)aaG>aaA		membrane-bound transcription factor peptidase, site 1							88.0	86.0	87.0					16																	84115363		2200	4300	6500	SO:0001819	synonymous_variant	8720	0	0					g.chr16:84115363C>T	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.1437G>A	chr16.hg19:g.84115363C>T		1					MBTPS1_ENST00000569770.1_5'UTR	p.K479K	NM_003791.2	NP_003782.1	1	2	3	2.195832	Q14703	MBTP1_HUMAN		11	1932	-			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	1	1	hg19	c.1437G>A	CCDS10941.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1		2	2	2	0		0	0	80		80	76	1	2.060000	-2.720066	1	0.170000	NM_003791			81	81		433	413	1		1	1		0	0	80	0		1	1	0	55	0	271	0	81	433
MBTPS1	8720	broad.mit.edu	37	16	84129262	84129262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84129262C>T	ENST00000343411.3	-	4	1065	c.570G>A	c.(568-570)ccG>ccA	p.P190P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAACCTGGCGCGGGATGGCTC	0.582																																						ENST00000343411.3	0.350000	0.100000	2.800000e-01	1.400000e-01	0.200000	0.219636	0.200000	0.210000																										0				41						c.(568-570)ccG>ccA		membrane-bound transcription factor peptidase, site 1							91.0	80.0	84.0					16																	84129262		2200	4300	6500	SO:0001819	synonymous_variant	8720	1	121412	32				g.chr16:84129262C>T	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.570G>A	chr16.hg19:g.84129262C>T		1					MBTPS1_ENST00000569770.1_5'Flank	p.P190P	NM_003791.2	NP_003782.1	1	2	3	2.195832	Q14703	MBTP1_HUMAN		4	1065	-			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	0	1	hg19	c.570G>A	CCDS10941.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	0	0	0		2	2	2	0		0	0	94		94	94	1	2.060000	-3.149952	1	0.170000	NM_003791			10	10		624	618	0		1	1		0	0	94	0		9.967618e-01	9.043296e-01	0	3	0	256	0	10	624
MBTPS1	8720	broad.mit.edu	37	16	84132743	84132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423																																						ENST00000343411.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(334-336)gcG>gcA		membrane-bound transcription factor peptidase, site 1							198.0	183.0	188.0					16																	84132743		2200	4300	6500	SO:0001819	synonymous_variant	8720	4	121412	43				g.chr16:84132743C>T	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.336G>A	chr16.hg19:g.84132743C>T		1						p.A112A	NM_003791.2	NP_003782.1	1	2	3	2.195832	Q14703	MBTP1_HUMAN		3	831	-			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	1	1	hg19	c.336G>A	CCDS10941.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	0		2	2	2	0		0	0	122		122	120	1	2.060000	-2.444326	0	0.170000	NM_003791			120	117		577	569	1		1	1		0	0	122	0		1	1	0	51	0	282	0	120	577
CHTF18	63922	broad.mit.edu	37	16	841944	841944	+	Missense_Mutation	SNP	G	G	A	rs368315905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000262315.9	+	9	1261	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T|CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	400					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627																																						ENST00000262315.9	1.000000	0.800000	1	9.900000e-01	0.990000	0.987459	0.990000	1.000000																										0				11						c.(1198-1200)Gcc>Acc		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)		G	THR/ALA	0,4338		0,0,2169	51.0	53.0	52.0		1198	5.0	0.8	16		52	2,8538		0,2,4268	no	missense	CHTF18	NM_022092.2	58	0,2,6437	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	400/976	841944	2,12876	2169	4270	6439	SO:0001583	missense	63922	3	120554	31				g.chr16:841944G>A	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1198G>A	chr16.hg19:g.841944G>A	ENSP00000262315:p.Ala400Thr	0					CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T|CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T	p.A400T	NM_022092.2	NP_071375.1	1	2	3	2.056757	Q8WVB6	CTF18_HUMAN		9	1261	+		Hepatocellular(780;0.00335)	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	0	1	hg19	c.1198G>A	CCDS45371.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750830	0.89753	0.0	2.34E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55547	-0.8124	10	0.87932	D	0	-14.4997	15.8801	0.79197	0.0:0.0:1.0:0.0	.	428;400	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	T	595;428;400	ENSP00000313029:A595T;ENSP00000406252:A428T;ENSP00000262315:A400T	ENSP00000262315:A400T	A	+	1	0	0	CHTF18	781945	781945	1.000000	0.71417	0.806000	0.32338	0.365000	0.29674	9.587000	0.98229	2.344000	0.79699	0.591000	0.81541	GCC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-17.267920	1	0.170000	NM_022092			10	10		71	69	1		1	1		0	0	13	0		9.971420e-01	2.885334e-01	0	5	0	3	0	10	71
MBTPS1	8720	broad.mit.edu	37	16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	87					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378																																						ENST00000343411.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(259-261)aTt>aGt		membrane-bound transcription factor peptidase, site 1							155.0	140.0	145.0					16																	84132819		2200	4300	6500	SO:0001583	missense	8720	0	0					g.chr16:84132819A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.260T>G	chr16.hg19:g.84132819A>C	ENSP00000344223:p.Ile87Ser	1						p.I87S	NM_003791.2	NP_003782.1	1	2	3	2.195832	Q14703	MBTP1_HUMAN		3	755	-			A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	1	1	hg19	c.260T>G	CCDS10941.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537704	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.36520	1.25	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.088634	0.85682	D	0.000000	T	0.58466	0.2124	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.63959	-0.6519	10	0.87932	D	0	-19.3983	16.1685	0.81786	1.0:0.0:0.0:0.0	.	87	Q14703	MBTP1_HUMAN	S	87	ENSP00000344223:I87S	ENSP00000344223:I87S	I	-	2	0	0	MBTPS1	82690320	82690320	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	8.870000	0.92336	2.225000	0.72522	0.528000	0.53228	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	0		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_003791			122	118		558	547	1		1	1		0	0	121	0		1	1	0	39	0	270	0	122	558
TAF1C	9013	broad.mit.edu	37	16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	717					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716																																						ENST00000567759.1	1.000000	0.610000	1	7.600000e-01	0.940000	0.905057	0.940000	1.000000																										0				26						c.(2149-2151)Ctc>Atc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							22.0	26.0	25.0					16																	84213008		2198	4294	6492	SO:0001583	missense	9013	0	0					g.chr16:84213008G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2149C>A	chr16.hg19:g.84213008G>T	ENSP00000455265:p.Leu717Ile	1					TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I	p.L717I	NM_005679.3	NP_005670	1	2	3	2.195832	Q15572	TAF1C_HUMAN		14	2331	-			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	1	1	hg19	c.2149C>A	CCDS32496.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440383	0.63067	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02709	4.19;4.19;4.19	5.14	3.97	0.46021	5.14	3.97	0.46021	.	0.117523	0.33834	N	0.004508	T	0.11793	0.0287	M	0.72118	2.19	0.28389	N	0.919179	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.00520	-1.1692	10	0.87932	D	0	-37.0793	9.4541	0.38745	0.1147:0.0:0.8853:0.0	.	691;240;717;623	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	I	717;624;623;240	ENSP00000367802:L717I;ENSP00000437900:L624I;ENSP00000345305:L623I	ENSP00000345305:L623I	L	-	1	0	0	TAF1C	82770509	82770509	0.812000	0.29077	0.998000	0.56505	0.707000	0.40811	1.602000	0.36783	2.390000	0.81377	0.561000	0.74099	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_139353			22	22		276	270	0		1	1		0	0	31	0		9.999987e-01	6.999292e-01	0	4	0	28	0	22	276
TAF1C	9013	broad.mit.edu	37	16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A	rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	389					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652													G|||	5	0.000998403	0.0	0.0029	5008	,	,		16161	0.0		0.003	False		,,,				2504	0.0					ENST00000567759.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1165-1167)Cgt>Tgt		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa		G	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	54.0	51.0	52.0		1165,886	4.6	1.0	16	dbSNP_134	52	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	TAF1C	NM_005679.3,NM_139353.2	180,180	0,12,6488	AA,AG,GG		0.1163,0.0455,0.0923	probably-damaging,probably-damaging	389/870,296/776	84215011	12,12988	2200	4300	6500	SO:0001583	missense	9013	127	121406	49				g.chr16:84215011G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1165C>T	chr16.hg19:g.84215011G>A	ENSP00000455265:p.Arg389Cys	1					TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C	p.R389C	NM_005679.3	NP_005670	1	2	3	2.195832	Q15572	TAF1C_HUMAN		10	1347	-			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	1	1	hg19	c.1165C>T	CCDS32496.1	1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.88	3.498123	0.64186	4.55E-4	0.001163	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.03301	3.98;3.98;3.98	4.56	4.56	0.56223	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.094549	0.41500	D	0.000877	T	0.15825	0.0381	M	0.72118	2.19	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.983	T	0.00090	-1.2087	10	0.66056	D	0.02	-23.8596	12.7086	0.57076	0.0:0.0:1.0:0.0	.	363;389;296	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	389;296;296	ENSP00000367802:R389C;ENSP00000437900:R296C;ENSP00000345305:R296C	ENSP00000345305:R296C	R	-	1	0	0	TAF1C	82772512	82772512	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.360000	0.80028	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-3.015776	1	0.170000	NM_139353			45	43		164	157	1		1	1		0	0	37	0		1	9.980839e-01	0	10	0	27	0	45	164
TAF1C	9013	broad.mit.edu	37	16	84215021	84215021	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000570117.1_Silent_p.S53S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000378541.4_Silent_p.S385S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	385					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657																																						ENST00000567759.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1153-1155)tcC>tcA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							56.0	52.0	53.0					16																	84215021		2200	4300	6500	SO:0001819	synonymous_variant	9013	0	0					g.chr16:84215021G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1155C>A	chr16.hg19:g.84215021G>T		1					TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000570117.1_Silent_p.S53S	p.S385S	NM_005679.3	NP_005670	1	2	3	2.195832	Q15572	TAF1C_HUMAN		10	1337	-			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	1	1	hg19	c.1155C>A	CCDS32496.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_139353			36	36		172	168	1		1	1		0	0	38	0		1	9.990021e-01	0	14	0	40	0	36	172
KCNG4	93107	broad.mit.edu	37	16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	405					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGCGGGGATGCTGGTGAAC	0.647																																						ENST00000308251.4	1.000000	0.680000	1	8.400000e-01	0.990000	0.941998	0.990000	1.000000																										0				31						c.(1213-1215)Atc>Gtc		potassium voltage-gated channel, subfamily G, member 4							28.0	27.0	27.0					16																	84256170		2199	4299	6498	SO:0001583	missense	93107	0	0					g.chr16:84256170T>C	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1213A>G	chr16.hg19:g.84256170T>C	ENSP00000312129:p.Ile405Val	1						p.I405V	NM_172347.2	NP_758857.1	1	2	3	2.195832	Q8TDN1	KCNG4_HUMAN		3	1281	-			Q96H24	Missense_Mutation	SNP	ENST00000308251.4	1	1	hg19	c.1213A>G	CCDS10945.1	1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683031	0.47991	.	.	ENSG00000168418	ENST00000308251	D	0.98455	-4.94	5.61	5.61	0.85477	5.61	5.61	0.85477	Ion transport (1);	0.046703	0.85682	D	0.000000	D	0.96614	0.8895	L	0.55743	1.74	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	D	0.95789	0.8823	10	0.66056	D	0.02	.	9.4757	0.38869	0.0:0.0783:0.0:0.9217	.	405	Q8TDN1	KCNG4_HUMAN	V	405	ENSP00000312129:I405V	ENSP00000312129:I405V	I	-	1	0	0	KCNG4	82813671	82813671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.232000	0.58645	2.127000	0.65507	0.533000	0.62120	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_172347			24	24		276	270	0		1			0	0	39	0		9.999997e-01	0	0	0	0	0	0	24	276
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000308251.4	-	2	429	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000568181.1_Missense_Mutation_p.G121R	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622																																						ENST00000308251.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				31						c.(361-363)Ggg>Agg		potassium voltage-gated channel, subfamily G, member 4							50.0	53.0	52.0					16																	84270731		2200	4300	6500	SO:0001583	missense	93107	0	0					g.chr16:84270731C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.361G>A	chr16.hg19:g.84270731C>T	ENSP00000312129:p.Gly121Arg	1					KCNG4_ENST00000568181.1_Missense_Mutation_p.G121R	p.G121R	NM_172347.2	NP_758857.1	1	2	3	2.195832	Q8TDN1	KCNG4_HUMAN		2	429	-			Q96H24	Missense_Mutation	SNP	ENST00000308251.4	1	1	hg19	c.361G>A	CCDS10945.1	1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159132	0.09236	.	.	ENSG00000168418	ENST00000308251	T	0.74842	-0.88	5.12	4.16	0.48862	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.158983	0.56097	D	0.000038	T	0.40067	0.1102	N	0.01277	-0.915	0.38865	D	0.956576	B;P	0.35011	0.008;0.48	B;B	0.26614	0.017;0.071	T	0.43147	-0.9409	10	0.25751	T	0.34	.	8.9585	0.35832	0.0:0.8319:0.0:0.1681	.	121;121	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	R	121	ENSP00000312129:G121R	ENSP00000312129:G121R	G	-	1	0	0	KCNG4	82828232	82828232	0.233000	0.23772	0.820000	0.32676	0.953000	0.61014	0.089000	0.15002	1.144000	0.42321	0.549000	0.68633	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-2.744839	1	0.170000	NM_172347			46	46		315	310	1		1	0		0	0	54	0		1	0	0	0	0	1	0	46	315
WFDC1	58189	broad.mit.edu	37	16	84353101	84353101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	162					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667																																						ENST00000219454.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(484-486)tgC>tgT		WAP four-disulfide core domain 1							84.0	65.0	72.0					16																	84353101		2200	4300	6500	SO:0001819	synonymous_variant	58189	0	0					g.chr16:84353101C>T	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.486C>T	chr16.hg19:g.84353101C>T		1					WFDC1_ENST00000568638.1_Silent_p.C162C	p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	1	2	3	2.195832	Q9HC57	WFDC1_HUMAN		4	812	+			D3DUL7|Q8NC27|Q9HAU1	Silent	SNP	ENST00000219454.5	1	1	hg19	c.486C>T	CCDS10946.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				97	96		248	244	1		1	0		0	0	51	0		1	8.174031e-01	0	0	0	10	0	97	248
WFDC1	58189	broad.mit.edu	37	16	84358039	84358039	+	Nonsense_Mutation	SNP	C	C	T	rs148672864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84358039C>T	ENST00000219454.5	+	5	903	c.577C>T	c.(577-579)Cga>Tga	p.R193*	WFDC1_ENST00000568638.1_Nonsense_Mutation_p.R193*	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCGAATCCTACGACACAAACT	0.358													C|||	11	0.00219649	0.0061	0.0014	5008	,	,		19797	0.002		0.0	False		,,,				2504	0.0					ENST00000219454.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(577-579)Cga>Tga		WAP four-disulfide core domain 1		C	stop/ARG	14,4386	21.2+/-45.6	0,14,2186	110.0	107.0	108.0		577	-5.5	0.0	16	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	WFDC1	NM_021197.2		0,15,6485	TT,TC,CC		0.0116,0.3182,0.1154		193/221	84358039	15,12985	2200	4300	6500	SO:0001587	stop_gained	58189	62	121408	50				g.chr16:84358039C>T	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.577C>T	chr16.hg19:g.84358039C>T	ENSP00000219454:p.Arg193*	1					WFDC1_ENST00000568638.1_Nonsense_Mutation_p.R193*	p.R193*	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	1	2	3	2.195832	Q9HC57	WFDC1_HUMAN		5	903	+			D3DUL7|Q8NC27|Q9HAU1	Nonsense_Mutation	SNP	ENST00000219454.5	0	0	hg19	c.577C>T	CCDS10946.1	1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	18.33	3.599834	0.66332	0.003182	1.16E-4	ENSG00000103175	ENST00000219454	.	.	.	4.55	-5.54	0.02544	4.55	-5.54	0.02544	.	0.125962	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5874	13.6663	0.62398	0.765:0.1425:0.0925:0.0	.	.	.	.	X	193	.	ENSP00000219454:R193X	R	+	1	2	2	WFDC1	82915540	82915540	0.204000	0.23447	0.000000	0.03702	0.010000	0.07245	0.265000	0.18515	-0.688000	0.05155	-1.229000	0.01577	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.181547	1	0.170000				72	72		261	259	1		1	0		0	0	71	0		1	9.799446e-01	0	0	0	25	0	72	261
ATP2C2	9914	broad.mit.edu	37	16	84442094	84442094	+	Silent	SNP	C	C	T	rs199924990		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000262429.4	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I137I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	137					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537																																						ENST00000262429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(409-411)atC>atT		ATPase, Ca++ transporting, type 2C, member 2							42.0	44.0	43.0					16																	84442094		2094	4226	6320	SO:0001819	synonymous_variant	9914	8	121044	37				g.chr16:84442094C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.411C>T	chr16.hg19:g.84442094C>T		1					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I137I	p.I137I	NM_014861.2	NP_055676.2	1	2	3	2.195832	O75185	AT2C2_HUMAN		4	500	+			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	1	1	hg19	c.411C>T	CCDS42207.1	1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275063	0.05679	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.7	2.75	0.32379	4.7	2.75	0.32379	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39313	-0.9620	7	0.87932	D	0	.	6.9582	0.24583	0.0:0.7117:0.0:0.2883	.	7	F8WAA5	.	L	7	.	ENSP00000393378:S7L	S	+	2	0	0	ATP2C2	82999595	82999595	0.464000	0.25807	0.948000	0.38648	0.075000	0.17131	0.355000	0.20163	0.431000	0.26258	-0.362000	0.07510	TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.329922	1	0.170000	NM_014861			54	54		159	156	0		1	1		0	0	38	0		1	9.489592e-01	0	12	0	5	0	54	159
ATP2C2	9914	broad.mit.edu	37	16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000262429.4	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L308F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	308					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502																																						ENST00000262429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(922-924)Ctc>Ttc		ATPase, Ca++ transporting, type 2C, member 2							260.0	254.0	256.0					16																	84459343		2011	4184	6195	SO:0001583	missense	9914	1	120926	34				g.chr16:84459343C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.922C>T	chr16.hg19:g.84459343C>T	ENSP00000262429:p.Leu308Phe	1					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L308F	p.L308F	NM_014861.2	NP_055676.2	1	2	3	2.195832	O75185	AT2C2_HUMAN		11	1011	+			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	1	1	hg19	c.922C>T	CCDS42207.1	1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933585	0.18206	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90324	-2.65;-2.65	5.0	-2.62	0.06152	5.0	-2.62	0.06152	ATPase, P-type, ATPase-associated domain (1);	1.503780	0.03710	N	0.250100	D	0.85283	0.5661	L	0.28115	0.83	0.38978	D	0.958882	B;B;B;B	0.21753	0.027;0.018;0.022;0.06	B;B;B;B	0.33750	0.12;0.043;0.073;0.169	T	0.70132	-0.4956	10	0.56958	D	0.05	.	5.7035	0.17895	0.0:0.1713:0.4723:0.3564	.	308;157;325;308	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	F	308;308;157	ENSP00000397925:L308F;ENSP00000262429:L308F	ENSP00000262429:L308F	L	+	1	0	0	ATP2C2	83016844	83016844	0.985000	0.35326	0.274000	0.24659	0.152000	0.21847	0.236000	0.17967	-0.250000	0.09555	-0.176000	0.13171	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	1	0	1		2	2	2	0		0	0	241		241	239	1	2.060000	-20.000000	1	0.170000	NM_014861			245	241		865	851	1		1	1		0	0	241	0		1	9.953711e-01	0	15	0	16	0	245	865
ATP2C2	9914	broad.mit.edu	37	16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	rs146513346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000262429.4	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L571I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627																																						ENST00000262429.4	1.000000	0.890000	1	9.900000e-01	0.990000	0.991313	0.990000	1.000000																										0				33						c.(1711-1713)Ctt>Att		ATPase, Ca++ transporting, type 2C, member 2							85.0	94.0	91.0					16																	84485577		1981	4158	6139	SO:0001583	missense	9914	0	0					g.chr16:84485577C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1711C>A	chr16.hg19:g.84485577C>A	ENSP00000262429:p.Leu571Ile	1					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L571I	p.L571I	NM_014861.2	NP_055676.2	1	2	3	2.195832	O75185	AT2C2_HUMAN		18	1800	+			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	1	1	hg19	c.1711C>A	CCDS42207.1	1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362537	0.41902	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74526	-0.85;-0.85	4.97	4.02	0.46733	4.97	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000013	T	0.77994	0.4214	L	0.45422	1.42	0.49483	D	0.999795	P;B;B;B	0.34934	0.476;0.264;0.421;0.31	P;B;B;B	0.51777	0.679;0.175;0.396;0.268	T	0.77091	-0.2716	10	0.48119	T	0.1	.	12.4434	0.55637	0.0:0.9179:0.0:0.0821	.	571;420;588;571	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	I	571;571;420	ENSP00000397925:L571I;ENSP00000262429:L571I	ENSP00000262429:L571I	L	+	1	0	0	ATP2C2	83043078	83043078	0.998000	0.40836	0.070000	0.20053	0.025000	0.11179	3.669000	0.54561	1.094000	0.41399	0.491000	0.48974	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-19.502670	1	0.170000	NM_014861			81	77		848	829	0		1	1		0	0	144	0		1	9.455617e-01	0	6	0	46	0	81	848
KLHL36	79786	broad.mit.edu	37	16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607																																						ENST00000564996.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(286-288)gGg>gAg		kelch-like family member 36							81.0	73.0	76.0					16																	84690700		2199	4300	6499	SO:0001583	missense	79786	0	0					g.chr16:84690700G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.287G>A	chr16.hg19:g.84690700G>A	ENSP00000456743:p.Gly96Glu	1					KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	p.G96E	NM_024731.2	NP_079007.2	1	2	3	2.195832	Q8N4N3	KLH36_HUMAN		3	428	+			Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	1	1	hg19	c.287G>A	CCDS10948.1	1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922463	0.52653	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65732	-0.17	5.7	4.73	0.59995	5.7	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046923	0.85682	D	0.000000	T	0.76877	0.4049	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79671	-0.1706	10	0.72032	D	0.01	.	15.805	0.78491	0.0:0.1363:0.8637:0.0	.	96;96	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	96	ENSP00000258157:G96E	ENSP00000258157:G96E	G	+	2	0	0	KLHL36	83248201	83248201	1.000000	0.71417	0.965000	0.40720	0.202000	0.24057	9.664000	0.98607	1.380000	0.46344	-0.176000	0.13171	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	0	0	1		2	2	2	0		0	0	48		48	44	1	2.060000	-20.000000	1	0.170000				94	91		287	280	1		1	1		0	0	48	0		1	1	0	28	0	51	0	94	287
KLHL36	79786	broad.mit.edu	37	16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	219	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667																																						ENST00000564996.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(655-657)aCg>aTg		kelch-like family member 36							27.0	25.0	26.0					16																	84691069		2184	4287	6471	SO:0001583	missense	79786	1	120852	28				g.chr16:84691069C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.656C>T	chr16.hg19:g.84691069C>T	ENSP00000456743:p.Thr219Met	1					KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	p.T219M	NM_024731.2	NP_079007.2	1	2	3	2.195832	Q8N4N3	KLH36_HUMAN		3	797	+			Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	1	1	hg19	c.656C>T	CCDS10948.1	1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269783	0.59540	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69435	-0.4	5.53	5.53	0.82687	5.53	5.53	0.82687	BTB/Kelch-associated (2);	0.180710	0.56097	D	0.000033	T	0.72203	0.3431	L	0.28274	0.84	0.47308	D	0.999388	D;D	0.71674	0.998;0.998	D;P	0.63703	0.917;0.891	T	0.74999	-0.3472	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	219;219	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	M	219	ENSP00000258157:T219M	ENSP00000258157:T219M	T	+	2	0	0	KLHL36	83248570	83248570	0.947000	0.32204	0.999000	0.59377	0.989000	0.77384	3.012000	0.49575	2.587000	0.87381	0.563000	0.77884	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1		2	2	2	0		0	0	60		60	57	1	2.060000	-20.000000	1	0.170000				99	98		223	218	1		1	1		0	0	60	0		1	9.999586e-01	0	19	0	18	0	99	223
KLHL36	79786	broad.mit.edu	37	16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677																																						ENST00000564996.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(919-921)Cgg>Tgg		kelch-like family member 36							19.0	21.0	20.0					16																	84691332		2197	4298	6495	SO:0001583	missense	79786	1	121258	30				g.chr16:84691332C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.919C>T	chr16.hg19:g.84691332C>T	ENSP00000456743:p.Arg307Trp	1					KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	p.R307W	NM_024731.2	NP_079007.2	1	2	3	2.195832	Q8N4N3	KLH36_HUMAN		3	1060	+			Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	1	1	hg19	c.919C>T	CCDS10948.1	1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840363	0.71488	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.15	4.2	0.49525	5.15	4.2	0.49525	Kelch-type beta propeller (1);	0.122178	0.56097	D	0.000030	T	0.73745	0.3626	M	0.62723	1.935	0.52099	D	0.999941	D;D	0.67145	0.996;0.983	P;P	0.53954	0.738;0.588	T	0.77760	-0.2467	10	0.87932	D	0	.	14.9005	0.70675	0.0:0.8562:0.1438:0.0	.	307;307	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	307	ENSP00000258157:R307W	ENSP00000258157:R307W	R	+	1	2	2	KLHL36	83248833	83248833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.730000	0.62015	1.163000	0.42636	-0.257000	0.10917	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				41	41		128	127	1		1	1		0	0	28	0		1	9.999956e-01	0	29	0	35	0	41	128
KLHL36	79786	broad.mit.edu	37	16	84695391	84695391	+	Silent	SNP	C	C	T	rs372073383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	501					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682																																						ENST00000564996.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1501-1503)agC>agT		kelch-like family member 36		C		0,4398		0,0,2199	67.0	60.0	62.0		1503	-3.6	1.0	16		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL36	NM_024731.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		501/617	84695391	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	79786	0	0					g.chr16:84695391C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1503C>T	chr16.hg19:g.84695391C>T		1					KLHL36_ENST00000258157.5_Silent_p.S438S	p.S501S	NM_024731.2	NP_079007.2	1	2	3	2.195832	Q8N4N3	KLH36_HUMAN		5	1644	+			Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	1	1	hg19	c.1503C>T	CCDS10948.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-6.416538	1	0.170000				90	90		240	236	1		1	1		0	0	47	0		1	9.999977e-01	0	17	0	37	0	90	240
GINS2	51659	broad.mit.edu	37	16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512																																						ENST00000253462.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(322-324)cCg>cTg		GINS complex subunit 2 (Psf2 homolog)							126.0	112.0	116.0					16																	85712255		2198	4300	6498	SO:0001583	missense	51659	1	121392	34				g.chr16:85712255G>A	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.323C>T	chr16.hg19:g.85712255G>A	ENSP00000253462:p.Pro108Leu	1						p.P108L	NM_016095.2	NP_057179.1	1	2	3	2.195832	Q9Y248	PSF2_HUMAN		4	423	-			D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	1	1	hg19	c.323C>T	CCDS10953.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337646	0.81911	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	4.58	0.56647	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.79921	-0.1599	9	0.42905	T	0.14	-34.2138	13.9823	0.64313	0.0732:0.0:0.9268:0.0	.	108	Q9Y248	PSF2_HUMAN	L	108	.	ENSP00000253462:P108L	P	-	2	0	0	GINS2	84269756	84269756	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.257000	0.95545	1.349000	0.45751	-0.259000	0.10710	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-2.243406	0	0.170000	NM_016095			92	90		481	473	1		1	1		0	0	106	0		1	9.998196e-01	0	11	0	56	0	92	481
COX4I1	1327	broad.mit.edu	37	16	85840345	85840345	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.375G>A	c.(373-375)gtG>gtA	p.V125V	COX4I1_ENST00000561569.1_Splice_Site_p.V125V|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000564903.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	125					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ACACCGTAGTGTACGGCCCCC	0.547																																						ENST00000562336.1	0.740000	0.280000	6.200000e-01	3.700000e-01	0.480000	0.503127	0.480000	0.480000																										0				9						c.(373-375)gtG>gtA		cytochrome c oxidase subunit IV isoform 1							81.0	72.0	75.0					16																	85840345		2198	4300	6498	SO:0001630	splice_region_variant	1327	0	0					g.chr16:85840345G>A	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.374-1G>A	chr16.hg19:g.85840345G>A		1					COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000561569.1_Splice_Site_p.V125V	p.V125V			1	2	3	2.195832	P13073	COX41_HUMAN		5	568	+		Renal(780;0.228)	B2R4J2|D3DUM7|Q6P666	Splice_Site	SNP	ENST00000562336.1	0	1	hg19	c.375G>A	CCDS10955.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	0	0	1		2	2	2	0		0	0	87		87	83	1	2.060000	-15.495600	1	0.170000	NM_001861	Silent		16	16		410	400	0		1	1		0	0	87	0		9.999225e-01	1	0	135	0	2905	0	16	410
IRF8	3394	broad.mit.edu	37	16	85942733	85942733	+	Silent	SNP	C	C	T	rs541779534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85942733C>T	ENST00000268638.5	+	3	734	c.312C>T	c.(310-312)tcC>tcT	p.S104S	IRF8_ENST00000563180.1_Silent_p.S104S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	104					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGACATTTCCGAGCCATACA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.001					ENST00000268638.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(310-312)tcC>tcT		interferon regulatory factor 8							56.0	56.0	56.0					16																	85942733		2198	4300	6498	SO:0001819	synonymous_variant	3394	4	121412	43				g.chr16:85942733C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.312C>T	chr16.hg19:g.85942733C>T		1					IRF8_ENST00000563180.1_Silent_p.S104S	p.S104S	NM_002163.2	NP_002154.1	1	2	3	2.195832	Q02556	IRF8_HUMAN		3	734	+		Prostate(104;0.0771)	A0AV82	Silent	SNP	ENST00000268638.5	1	0	hg19	c.312C>T	CCDS10956.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	1		2	2	2	0		0	0	59		59	55	1	2.060000	-1.501821	0	0.170000	NM_002163			52	52		246	240	1		1	1		0	0	59	0		1	1	0	2	0	137	0	52	246
IRF8	3394	broad.mit.edu	37	16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	257					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726																																						ENST00000268638.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(769-771)Gcc>Acc		interferon regulatory factor 8							14.0	18.0	17.0					16																	85952190		2154	4243	6397	SO:0001583	missense	3394	1	120094	26				g.chr16:85952190G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.769G>A	chr16.hg19:g.85952190G>A	ENSP00000268638:p.Ala257Thr	1					IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	p.A257T	NM_002163.2	NP_002154.1	1	2	3	2.195832	Q02556	IRF8_HUMAN		7	1191	+		Prostate(104;0.0771)	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	1	1	hg19	c.769G>A	CCDS10956.1	1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032788	0.19590	.	.	ENSG00000140968	ENST00000268638	D	0.95272	-3.66	5.1	-10.2	0.00374	5.1	-10.2	0.00374	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.932551	0.09287	N	0.822867	D	0.82540	0.5059	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70421	-0.4876	10	0.14656	T	0.56	-2.6013	2.0591	0.03587	0.46:0.1642:0.21:0.1658	.	257	Q02556	IRF8_HUMAN	T	257	ENSP00000268638:A257T	ENSP00000268638:A257T	A	+	1	0	0	IRF8	84509691	84509691	0.000000	0.05858	0.029000	0.17559	0.913000	0.54294	-0.493000	0.06459	-2.503000	0.00509	-0.142000	0.14014	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_002163			79	76		230	226	1		1	0		0	0	43	0		1	2.746015e-01	0	0	0	4	0	79	230
IRF8	3394	broad.mit.edu	37	16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	404					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587																																						ENST00000268638.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1210-1212)cGg>cAg		interferon regulatory factor 8							63.0	68.0	66.0					16																	85954818		2198	4300	6498	SO:0001583	missense	3394	2	121412	34				g.chr16:85954818G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1211G>A	chr16.hg19:g.85954818G>A	ENSP00000268638:p.Arg404Gln	1					IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	p.R404Q	NM_002163.2	NP_002154.1	1	2	3	2.195832	Q02556	IRF8_HUMAN		9	1633	+		Prostate(104;0.0771)	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	1	1	hg19	c.1211G>A	CCDS10956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604648	0.87157	.	.	ENSG00000140968	ENST00000268638	D	0.95171	-3.63	5.63	5.63	0.86233	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);	0.108661	0.64402	D	0.000009	D	0.91801	0.7406	L	0.32530	0.975	0.45390	D	0.998373	D	0.55605	0.972	B	0.42522	0.39	D	0.92082	0.5673	10	0.49607	T	0.09	-44.2873	19.6783	0.95946	0.0:0.0:1.0:0.0	.	404	Q02556	IRF8_HUMAN	Q	404	ENSP00000268638:R404Q	ENSP00000268638:R404Q	R	+	2	0	0	IRF8	84512319	84512319	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.305000	0.72805	2.655000	0.90218	0.555000	0.69702	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-6.935671	1	0.170000	NM_002163			156	151		430	418	1		1	1		0	0	93	0		1	1	0	4	0	89	0	156	430
FOXF1	2294	broad.mit.edu	37	16	86544232	86544232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	ENST00000262426.4	+	1	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	19					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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						gcggcggcggcgggggaggcg	0.776																																						ENST00000262426.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				12						c.(55-57)ggC>ggT		forkhead box F1							2.0	3.0	2.0					16																	86544232		1341	2962	4303	SO:0001819	synonymous_variant	2294	0	0					g.chr16:86544232C>T	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.57C>T	chr16.hg19:g.86544232C>T		1					FENDRR_ENST00000595886.1_lincRNA	p.G19G	NM_001451.2	NP_001442.2	1	2	3	2.195832	Q12946	FOXF1_HUMAN		1	100	+			B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	0	1	hg19	c.57C>T	CCDS10957.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.776	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	0	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_001451			12	12		25	23	0		1			0	0	8	0		9.994613e-01	0	0	0	0	0	0	12	25
FOXF1	2294	broad.mit.edu	37	16	86545078	86545078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	301					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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706																																						ENST00000262426.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(901-903)tcC>tcT		forkhead box F1							5.0	6.0	6.0					16																	86545078		2037	4050	6087	SO:0001819	synonymous_variant	2294	0	0					g.chr16:86545078C>T	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.903C>T	chr16.hg19:g.86545078C>T		1					FENDRR_ENST00000595886.1_lincRNA	p.S301S	NM_001451.2	NP_001442.2	1	2	3	2.195832	Q12946	FOXF1_HUMAN		1	946	+			B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	1	1	hg19	c.903C>T	CCDS10957.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_001451			21	21		61	60	0		1	0		0	0	18	0		9.999991e-01	9.999741e-01	0	1	0	58	0	21	61
FOXC2	2303	broad.mit.edu	37	16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	67					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652									Late-onset Hereditary Lymphedema																													ENST00000320354.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(199-201)cCt>cAt		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							54.0	57.0	56.0					16																	86601141		2198	4300	6498	SO:0001583	missense	2303	0	0		Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	g.chr16:86601141C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.200C>A	chr16.hg19:g.86601141C>A	ENSP00000326371:p.Pro67His	1					RP11-463O9.5_ENST00000563280.1_RNA	p.P67H	NM_005251.2	NP_005242.1	1	2	3	2.195832	Q99958	FOXC2_HUMAN		1	285	+			C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	1	1	hg19	c.200C>A	CCDS10958.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500724	0.64298	.	.	ENSG00000176692	ENST00000320354	D	0.96011	-3.88	4.67	4.67	0.58626	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.388043	0.21425	U	0.074752	D	0.96623	0.8898	M	0.62723	1.935	0.43061	D	0.994685	D	0.69078	0.997	P	0.62014	0.897	D	0.96193	0.9139	10	0.38643	T	0.18	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	67	Q99958	FOXC2_HUMAN	H	67	ENSP00000326371:P67H	ENSP00000326371:P67H	P	+	2	0	0	FOXC2	85158642	85158642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.145000	0.66743	0.650000	0.86243	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	1	0	0		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_005251			130	129		341	334	0		1	0		0	0	69	0		1	6.167446e-01	0	0	0	7	0	130	341
FOXC2	2303	broad.mit.edu	37	16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	97					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597									Late-onset Hereditary Lymphedema																													ENST00000320354.4	0.830000	0.460000	7.400000e-01	5.400000e-01	0.630000	0.647804	0.630000	0.630000																										0				15	GRCh37	CD012256	FOXC2	D		c.(289-291)gGc>gAc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							118.0	122.0	120.0					16																	86601231		2198	4300	6498	SO:0001583	missense	2303	0	0		Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	g.chr16:86601231G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.290G>A	chr16.hg19:g.86601231G>A	ENSP00000326371:p.Gly97Asp	1					RP11-463O9.5_ENST00000563280.1_RNA	p.G97D	NM_005251.2	NP_005242.1	1	2	3	2.195832	Q99958	FOXC2_HUMAN		1	375	+			C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	1	1	hg19	c.290G>A	CCDS10958.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000176692	ENST00000320354	D	0.95103	-3.61	4.67	4.67	0.58626	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000029	D	0.94673	0.8282	L	0.37697	1.125	0.80722	D	1	P	0.41978	0.767	P	0.56648	0.803	D	0.94092	0.7354	10	0.37606	T	0.19	.	16.2107	0.82151	0.0:0.0:1.0:0.0	.	97	Q99958	FOXC2_HUMAN	D	97	ENSP00000326371:G97D	ENSP00000326371:G97D	G	+	2	0	0	FOXC2	85158732	85158732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.145000	0.66743	0.650000	0.86243	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	1	0	0		2	2	2	0		0	0	178		178	176	1	2.060000	-5.655000	1	0.170000	NM_005251			42	41		800	779	0		1	0		0	0	178	0		1	1.061978e-01	0	0	0	11	0	42	800
FOXC2	2303	broad.mit.edu	37	16	86601383	86601383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601383C>A	ENST00000320354.4	+	1	527	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	148					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TTACTGGACCCTGGACCCGGA	0.627									Late-onset Hereditary Lymphedema																													ENST00000320354.4	0.410000	0.150000	3.400000e-01	2.000000e-01	0.260000	0.275144	0.260000	0.270000																										0				15						c.(442-444)Ctg>Atg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							58.0	69.0	65.0					16																	86601383		2198	4300	6498	SO:0001583	missense	2303	0	0		Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	g.chr16:86601383C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.442C>A	chr16.hg19:g.86601383C>A	ENSP00000326371:p.Leu148Met	1					RP11-463O9.5_ENST00000563280.1_RNA	p.L148M	NM_005251.2	NP_005242.1	1	2	3	2.195832	Q99958	FOXC2_HUMAN		1	527	+			C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	0	1	hg19	c.442C>A	CCDS10958.1	0	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025122	0.54683	.	.	ENSG00000176692	ENST00000320354	D	0.96913	-4.17	4.54	3.58	0.41010	4.54	3.58	0.41010	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.43747	U	0.000525	D	0.97879	0.9303	M	0.85197	2.74	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.72032	D	0.01	.	11.5189	0.50539	0.0:0.9096:0.0:0.0904	.	148	Q99958	FOXC2_HUMAN	M	148	ENSP00000326371:L148M	ENSP00000326371:L148M	L	+	1	2	2	FOXC2	85158884	85158884	0.969000	0.33509	0.984000	0.44739	0.989000	0.77384	2.354000	0.44098	0.899000	0.36444	0.558000	0.71614	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	0	0	1		2	2	2	0		0	0	157		157	157	1	2.060000	-2.506689	1	0.170000	NM_005251			15	14		722	709	0		1	0		0	0	157	0		9.998508e-01	1.598889e-02	0	0	0	9	0	15	722
FBXO31	79791	broad.mit.edu	37	16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	528					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617																																						ENST00000311635.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1582-1584)Gat>Aat		F-box protein 31							97.0	71.0	80.0					16																	87364932		2198	4300	6498	SO:0001583	missense	79791	0	0					g.chr16:87364932C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1582G>A	chr16.hg19:g.87364932C>T	ENSP00000310841:p.Asp528Asn	1					RP11-178L8.4_ENST00000568879.1_Intron	p.D528N	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	1	2	3	2.195832	Q5XUX0	FBX31_HUMAN		9	1594	-			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	1	1	hg19	c.1582G>A	CCDS32501.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236583	0.79800	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.108090	0.64402	D	0.000006	T	0.55513	0.1925	L	0.36672	1.1	0.51767	D	0.999931	P;D	0.54047	0.939;0.964	B;P	0.45971	0.303;0.499	T	0.62695	-0.6800	9	0.72032	D	0.01	-29.6364	18.3459	0.90322	0.0:1.0:0.0:0.0	.	528;420	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	N	528	.	ENSP00000310841:D528N	D	-	1	0	0	FBXO31	85922433	85922433	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_024735			51	51		261	259	1		1	1		0	0	50	0		1	1	0	28	0	112	0	51	261
FBXO31	79791	broad.mit.edu	37	16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	211					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637																																						ENST00000311635.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				17						c.(631-633)aAa>aCa		F-box protein 31							48.0	45.0	46.0					16																	87377229		2198	4300	6498	SO:0001583	missense	79791	0	0					g.chr16:87377229T>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.632A>C	chr16.hg19:g.87377229T>G	ENSP00000310841:p.Lys211Thr	1						p.K211T	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	1	2	3	2.195832	Q5XUX0	FBX31_HUMAN		4	644	-			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	1	1	hg19	c.632A>C	CCDS32501.1	1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674904	0.29783	.	.	ENSG00000103264	ENST00000311635	T	0.70164	-0.46	5.05	-1.46	0.08800	5.05	-1.46	0.08800	.	0.096351	0.64402	D	0.000001	T	0.49081	0.1536	N	0.24115	0.695	0.39230	D	0.963656	P;P	0.46706	0.883;0.675	B;B	0.42827	0.399;0.381	T	0.45789	-0.9237	10	0.40728	T	0.16	-14.7255	10.9479	0.47312	0.0:0.1776:0.0:0.8224	.	211;103	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	T	211	ENSP00000310841:K211T	ENSP00000310841:K211T	K	-	2	0	0	FBXO31	85934730	85934730	0.994000	0.37717	0.007000	0.13788	0.812000	0.45895	2.197000	0.42696	-0.482000	0.06782	0.533000	0.62120	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_024735			20	19		96	93	1		1	1		0	0	26	0		9.999965e-01	9.999971e-01	0	23	0	91	0	20	96
ZCCHC14	23174	broad.mit.edu	37	16	87445750	87445750	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	722	Ser-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642																																						ENST00000268616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2164-2166)acG>acA		zinc finger, CCHC domain containing 14							39.0	43.0	42.0					16																	87445750		2198	4299	6497	SO:0001819	synonymous_variant	23174	2	121412	36				g.chr16:87445750C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2166G>A	chr16.hg19:g.87445750C>T		1						p.T722T	NM_015144.2	NP_055959.1	1	2	3	2.195832	Q8WYQ9	ZCH14_HUMAN		12	2383	-			D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	1	1	hg19	c.2166G>A	CCDS10961.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_015144			87	85		400	389	1		1	1		0	0	80	0		1	9.999993e-01	0	15	0	80	0	87	400
ZCCHC14	23174	broad.mit.edu	37	16	87446179	87446179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87446179C>T	ENST00000268616.4	-	12	1954	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	579							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGCTCTCCGAAAGCCCAG	0.612																																						ENST00000268616.4	0.530000	0.160000	4.300000e-01	2.300000e-01	0.320000	0.337177	0.320000	0.300000																										0				36						c.(1735-1737)tcG>tcA		zinc finger, CCHC domain containing 14							50.0	55.0	53.0					16																	87446179		2198	4300	6498	SO:0001819	synonymous_variant	23174	7	121412	39				g.chr16:87446179C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1737G>A	chr16.hg19:g.87446179C>T		1						p.S579S	NM_015144.2	NP_055959.1	1	2	3	2.195832	Q8WYQ9	ZCH14_HUMAN		12	1954	-			D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	0	1	hg19	c.1737G>A	CCDS10961.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-2.961085	1	0.170000	NM_015144			11	11		438	429	0		1	0		0	0	65	0		9.981807e-01	4.566703e-01	0	0	0	59	0	11	438
ZCCHC14	23174	broad.mit.edu	37	16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	327							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393																																						ENST00000268616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(979-981)aGc>aTc		zinc finger, CCHC domain containing 14							93.0	93.0	93.0					16																	87448966		2198	4300	6498	SO:0001583	missense	23174	0	0					g.chr16:87448966C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.980G>T	chr16.hg19:g.87448966C>A	ENSP00000268616:p.Ser327Ile	1						p.S327I	NM_015144.2	NP_055959.1	1	2	3	2.195832	Q8WYQ9	ZCH14_HUMAN		9	1197	-			D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	1	1	hg19	c.980G>T	CCDS10961.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036877	0.75617	.	.	ENSG00000140948	ENST00000268616	T	0.50813	0.73	5.8	5.8	0.92144	5.8	5.8	0.92144	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.133890	0.64402	D	0.000002	T	0.64114	0.2569	L	0.42245	1.32	0.39463	D	0.967599	D;D	0.76494	0.998;0.999	D;D	0.74674	0.934;0.984	T	0.65425	-0.6171	10	0.72032	D	0.01	-30.6939	20.0537	0.97638	0.0:1.0:0.0:0.0	.	327;327	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	327	ENSP00000268616:S327I	ENSP00000268616:S327I	S	-	2	0	0	ZCCHC14	86006467	86006467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.334000	0.59291	2.758000	0.94735	0.561000	0.74099	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	0	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_015144			71	69		337	329	1		1	1		0	0	68	0		1	9.944255e-01	0	7	0	33	0	71	337
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Silent	SNP	C	C	T	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|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)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677																																						ENST00000284262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(439-441)agC>agT		junctophilin 3		C		1,4395	2.1+/-5.4	0,1,2197	51.0	53.0	52.0		441	-4.0	0.9	16	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JPH3	NM_020655.2		0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154		147/749	87677922	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	57338	9	121270	42				g.chr16:87677922C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.441C>T	chr16.hg19:g.87677922C>T		1						p.S147S	NM_020655.2	NP_065706.2	1	2	3	2.195832	Q8WXH2	JPH3_HUMAN		2	683	+			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	1	1	hg19	c.441C>T	CCDS10962.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-20.000000	1	0.170000				179	178		481	470	1		1			0	0	90	0		1	0	0	0	0	0	0	179	481
JPH3	57338	broad.mit.edu	37	16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A	rs371703523		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	282					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|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)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGACATCGACGCCACCACCAC	0.667																																						ENST00000284262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(844-846)Gcc>Acc		junctophilin 3		G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	85.0	79.0	81.0		844	4.9	1.0	16		81	0,8600		0,0,4300	no	missense	JPH3	NM_020655.2	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	282/749	87678325	1,12995	2198	4300	6498	SO:0001583	missense	57338	5	121394	39				g.chr16:87678325G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.844G>A	chr16.hg19:g.87678325G>A	ENSP00000284262:p.Ala282Thr	1						p.A282T	NM_020655.2	NP_065706.2	1	2	3	2.195832	Q8WXH2	JPH3_HUMAN		2	1086	+			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	1	1	hg19	c.844G>A	CCDS10962.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.223433	0.95139	2.27E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51071	0.72	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.64622	-0.6364	10	0.26408	T	0.33	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	282	Q8WXH2	JPH3_HUMAN	T	145;282	ENSP00000284262:A282T	ENSP00000284262:A282T	A	+	1	0	0	JPH3	86235826	86235826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				144	143		360	355	1		1	0		0	0	63	0		1	0	0	0	0	1	0	144	360
JPH3	57338	broad.mit.edu	37	16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	345					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|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)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATCCTCGTCGGCGGCAAGCGC	0.677																																						ENST00000284262.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1033-1035)gGc>gAc		junctophilin 3							47.0	56.0	53.0					16																	87678515		2197	4300	6497	SO:0001583	missense	57338	0	0					g.chr16:87678515G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1034G>A	chr16.hg19:g.87678515G>A	ENSP00000284262:p.Gly345Asp	1						p.G345D	NM_020655.2	NP_065706.2	1	2	3	2.195832	Q8WXH2	JPH3_HUMAN		2	1276	+			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	1	1	hg19	c.1034G>A	CCDS10962.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018483	0.54576	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.70045	-0.45	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.08118	0	0.26726	N	0.970681	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.21014	T	0.42	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	345	Q8WXH2	JPH3_HUMAN	D	208;345	ENSP00000284262:G345D	ENSP00000284262:G345D	G	+	2	0	0	JPH3	86236016	86236016	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	6.520000	0.73773	2.098000	0.63641	0.561000	0.74099	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000				84	83		305	300	1		1			0	0	48	0		1	0	0	0	0	0	0	84	305
KLHDC4	54758	broad.mit.edu	37	16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	rs141733244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587																																						ENST00000270583.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1021-1023)Cgt>Tgt		kelch domain containing 4		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4394	2.1+/-5.4	0,2,2196	108.0	103.0	105.0		850,928,1021	3.6	1.0	16	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	180,180,180	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging	284/464,310/490,341/521	87744864	2,12994	2198	4300	6498	SO:0001583	missense	54758	4	121412	43				g.chr16:87744864G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1021C>T	chr16.hg19:g.87744864G>A	ENSP00000270583:p.Arg341Cys	1					KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	p.R341C	NM_017566.3	NP_060036.2	1	2	3	2.195832	Q8TBB5	KLDC4_HUMAN		9	1079	-			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	1	1	hg19	c.1021C>T	CCDS10963.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173339	0.57584	4.55E-4	0.0	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.18502	2.21;2.21;2.21	4.54	3.59	0.41128	4.54	3.59	0.41128	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93462	3.42	0.80722	D	1	P;P;D;D	0.89917	0.892;0.939;1.0;1.0	B;B;D;D	0.83275	0.376;0.357;0.978;0.996	T	0.59252	-0.7489	10	0.59425	D	0.04	-18.6654	11.4437	0.50110	0.0889:0.0:0.9111:0.0	.	160;284;310;341	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	C	341;160;310;284	ENSP00000270583:R341C;ENSP00000325717:R310C;ENSP00000262530:R284C	ENSP00000270583:R341C	R	-	1	0	0	KLHDC4	86302365	86302365	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	8.659000	0.91116	0.910000	0.36722	0.591000	0.81541	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	1	0	1		2	2	2	0		0	0	79		79	76	1	2.060000	-2.578581	1	0.170000	NM_017566			60	59		378	374	1		1	1		0	0	79	0		1	9.998317e-01	0	16	0	66	0	60	378
KLHDC4	54758	broad.mit.edu	37	16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438																																						ENST00000270583.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(571-573)Ctg>Atg		kelch domain containing 4							148.0	127.0	134.0					16																	87764186		2198	4300	6498	SO:0001583	missense	54758	0	0					g.chr16:87764186G>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.571C>A	chr16.hg19:g.87764186G>T	ENSP00000270583:p.Leu191Met	1					KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	p.L191M	NM_017566.3	NP_060036.2	1	2	3	2.195832	Q8TBB5	KLDC4_HUMAN		6	629	-			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	1	1	hg19	c.571C>A	CCDS10963.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528879	0.64860	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	T;T	0.69040	-0.37;-0.37	4.92	1.22	0.21188	4.92	1.22	0.21188	Kelch-type beta propeller (1);	0.291280	0.32593	N	0.005883	T	0.65217	0.2670	L	0.31476	0.935	0.31859	N	0.621278	D;D;B	0.64830	0.994;0.991;0.397	D;P;B	0.65987	0.94;0.894;0.206	T	0.66110	-0.6005	10	0.45353	T	0.12	-21.5663	7.3044	0.26438	0.0:0.3857:0.3034:0.311	.	10;134;191	Q9UF94;Q8TBB5-2;Q8TBB5	.;.;KLDC4_HUMAN	M	191;10;134	ENSP00000270583:L191M;ENSP00000262530:L134M	ENSP00000270583:L191M	L	-	1	2	2	KLHDC4	86321687	86321687	0.043000	0.20138	0.538000	0.28064	0.827000	0.46813	-0.176000	0.09811	1.010000	0.39314	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	0	0	0		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_017566			135	133		471	463	1		1	1		0	0	136	0		1	9.999991e-01	0	32	0	39	0	135	471
KLHDC4	54758	broad.mit.edu	37	16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18624	0.001		0.0	False		,,,				2504	0.0					ENST00000270583.5	0.960000	0.500000	8.400000e-01	6.000000e-01	0.710000	0.726798	0.710000	0.720000																										0				21						c.(541-543)cGg>cAg		kelch domain containing 4		C	GLN/ARG,,GLN/ARG	6,4390	11.4+/-27.6	0,6,2192	136.0	120.0	126.0		371,,542	4.9	1.0	16	dbSNP_134	126	0,8600		0,0,4300	yes	missense,intron,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	43,,43	0,6,6492	TT,TC,CC		0.0,0.1365,0.0462	probably-damaging,,probably-damaging	124/464,,181/521	87764215	6,12990	2198	4300	6498	SO:0001583	missense	54758	11	121412	46				g.chr16:87764215C>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.542G>A	chr16.hg19:g.87764215C>T	ENSP00000270583:p.Arg181Gln	1					KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	p.R181Q	NM_017566.3	NP_060036.2	1	2	3	2.195832	Q8TBB5	KLDC4_HUMAN		6	600	-			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	1	1	hg19	c.542G>A	CCDS10963.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.604795	0.96626	0.001365	0.0	ENSG00000104731	ENST00000270583;ENST00000353170	T;T	0.62232	0.04;0.04	4.92	4.92	0.64577	4.92	4.92	0.64577	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.79926	-0.1597	10	0.59425	D	0.04	-1.9439	15.2697	0.73689	0.0:1.0:0.0:0.0	.	124;181	Q8TBB5-2;Q8TBB5	.;KLDC4_HUMAN	Q	181;124	ENSP00000270583:R181Q;ENSP00000262530:R124Q	ENSP00000270583:R181Q	R	-	2	0	0	KLHDC4	86321716	86321716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.272000	0.75746	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	1	0	0		2	2	2	0		0	0	144		144	144	1	2.060000	-2.773874	1	0.170000	NM_017566			33	32		558	544	0		1	1		0	0	144	0		1	8.992015e-01	0	5	0	64	0	33	558
SLC7A5	8140	broad.mit.edu	37	16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	439					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|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)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGCCAGGATGAAGAACACAGG	0.647																																						ENST00000261622.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				10						c.(1315-1317)tTc>tGc		solute carrier family 7 (amino acid transporter light chain, L system), member 5	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)						39.0	36.0	37.0					16																	87868172		2189	4294	6483	SO:0001583	missense	8140	0	0					g.chr16:87868172A>C	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1316T>G	chr16.hg19:g.87868172A>C	ENSP00000261622:p.Phe439Cys	1					RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	p.F439C	NM_003486.5	NP_003477.4	1	2	3	2.195832	Q01650	LAT1_HUMAN		9	1381	-			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	1	1	hg19	c.1316T>G	CCDS10964.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473396	0.84640	.	.	ENSG00000103257	ENST00000261622	D	0.90444	-2.67	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.7371	0.69424	1.0:0.0:0.0:0.0	.	439	Q01650	LAT1_HUMAN	C	439	ENSP00000261622:F439C	ENSP00000261622:F439C	F	-	2	0	0	SLC7A5	86425673	86425673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.087000	0.76893	2.084000	0.62774	0.374000	0.22700	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_003486			15	15		44	44	1		1	1		0	0	11	0		9.999435e-01	1	0	49	0	153	0	15	44
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|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)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522																																						ENST00000261622.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(751-753)Ctc>Atc		solute carrier family 7 (amino acid transporter light chain, L system), member 5	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)						205.0	176.0	186.0					16																	87874675		2198	4300	6498	SO:0001583	missense	8140	0	0					g.chr16:87874675G>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	chr16.hg19:g.87874675G>T	ENSP00000261622:p.Leu251Ile	1					SLC7A5_ENST00000565644.1_5'UTR	p.L251I	NM_003486.5	NP_003477.4	1	2	3	2.195832	Q01650	LAT1_HUMAN		3	816	-			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	1	1	hg19	c.751C>A	CCDS10964.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	0	SLC7A5	86432176	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.221908	1	0.170000	NM_003486			65	63		425	423	1		1	1		0	0	120	0		1	9.999995e-01	0	35	0	102	0	65	425
BANP	54971	broad.mit.edu	37	16	88039849	88039849	+	Silent	SNP	G	G	T	rs372273341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88039849G>T	ENST00000393207.1	+	6	830	c.609G>T	c.(607-609)acG>acT	p.T203T	BANP_ENST00000538234.1_Silent_p.T211T|BANP_ENST00000479780.2_Silent_p.T172T|BANP_ENST00000286122.7_Silent_p.T203T|BANP_ENST00000355163.5_Silent_p.T178T|BANP_ENST00000355022.4_Silent_p.T172T|BANP_ENST00000393208.2_Silent_p.T172T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	203	Interaction with CUX1 and HDAC1. {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)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCAACGTCACGCTCATCACCC	0.582																																						ENST00000393207.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(607-609)acG>acT		BTG3 associated nuclear protein							74.0	75.0	75.0					16																	88039849		2198	4300	6498	SO:0001819	synonymous_variant	54971	0	0					g.chr16:88039849G>T	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.609G>T	chr16.hg19:g.88039849G>T		1					BANP_ENST00000393208.2_Silent_p.T172T|BANP_ENST00000355163.5_Silent_p.T178T|BANP_ENST00000479780.2_Silent_p.T172T|BANP_ENST00000355022.4_Silent_p.T172T|BANP_ENST00000538234.1_Silent_p.T211T|BANP_ENST00000286122.7_Silent_p.T203T	p.T203T	NM_001173543.1	NP_001167014.1	1	2	3	2.195832	Q8N9N5	BANP_HUMAN		6	830	+			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	1	0	hg19	c.609G>T	CCDS54054.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	0		2	2	2	0		0	0	86		86	84	1	2.060000	-15.209310	1	0.170000	NM_017869			177	174		363	358	0		1	1		0	0	86	0		1	9.999433e-01	0	9	0	23	0	177	363
ABAT	18	broad.mit.edu	37	16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000396600.2	+	2	949	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_ENST00000268251.8_Missense_Mutation_p.M4R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000425191.2_Missense_Mutation_p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587																																						ENST00000396600.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999859	0.990000	1.000000																										0				26						c.(10-12)aTg>aGg		4-aminobutyrate aminotransferase	L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						38.0	29.0	32.0					16																	8829607		2197	4300	6497	SO:0001583	missense	18	0	0					g.chr16:8829607T>G	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.11T>G	chr16.hg19:g.8829607T>G	ENSP00000379845:p.Met4Arg	0					ABAT_ENST00000425191.2_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R	p.M4R	NM_000663.4	NP_000654.2	1	2	3	2.056757	P80404	GABT_HUMAN		2	949	+			A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	0	1	hg19	c.11T>G	CCDS10534.1	1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110442	0.20714	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.81739	-1.53;-1.53;-1.53	4.1	2.99	0.34606	4.1	2.99	0.34606	.	0.314257	0.35615	N	0.003093	T	0.69771	0.3148	L	0.36672	1.1	0.28748	N	0.901563	B	0.02656	0.0	B	0.01281	0.0	T	0.64317	-0.6436	10	0.62326	D	0.03	-2.3346	8.544	0.33410	0.0:0.0:0.2275:0.7725	.	4	P80404	GABT_HUMAN	R	4	ENSP00000268251:M4R;ENSP00000379845:M4R;ENSP00000411916:M4R	ENSP00000268251:M4R	M	+	2	0	0	ABAT	8737108	8737108	0.998000	0.40836	0.855000	0.33649	0.299000	0.27559	1.916000	0.39986	0.781000	0.33589	0.529000	0.55759	ATG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_020686			14	14		54	53	1		1	1		0	0	10	0		9.998474e-01	9.806368e-01	0	9	0	20	0	14	54
ABAT	18	broad.mit.edu	37	16	8844347	8844347	+	Silent	SNP	C	C	T	rs199666932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8844347C>T	ENST00000396600.2	+	5	1205	c.267C>T	c.(265-267)gaC>gaT	p.D89D	ABAT_ENST00000268251.8_Silent_p.D89D|ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000425191.2_Silent_p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	89					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGATGTGGACGGCAACCGAA	0.468													C|||	9	0.00179712	0.0	0.0	5008	,	,		20866	0.0079		0.001	False		,,,				2504	0.0					ENST00000396600.2	1.000000	0.110000	1	1.600000e-01	0.230000	0.360889	0.230000	0.210000																										0				26						c.(265-267)gaC>gaT		4-aminobutyrate aminotransferase	L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	C	,,	0,4394		0,0,2197	203.0	182.0	189.0		267,267,267	-5.4	0.9	16		189	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	,,	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	,,	89/501,89/501,89/501	8844347	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	18	83	121412	54				g.chr16:8844347C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.267C>T	chr16.hg19:g.8844347C>T		0					ABAT_ENST00000425191.2_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000268251.8_Silent_p.D89D	p.D89D	NM_000663.4	NP_000654.2	1	2	3	2.056757	P80404	GABT_HUMAN		5	1205	+			A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	0	1	hg19	c.267C>T	CCDS10534.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	0	0	0		2	2	2	0		0	0	122		122	122	1	2.060000	-2.753100	1	0.170000	NM_020686			12	12		672	660	0		1	1		0	0	122	0		9.990123e-01	1.381498e-01	0	2	0	32	0	12	672
BANP	54971	broad.mit.edu	37	16	88066767	88066767	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000393208.2_Silent_p.P333P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	364	DNA-binding. {ECO:0000250}.|Gln-rich.				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)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627																																						ENST00000393207.1	1.000000	0.320000	8.300000e-01	4.500000e-01	0.620000	0.644190	0.620000	1.000000																										0				12						c.(1090-1092)ccG>ccA		BTG3 associated nuclear protein							27.0	23.0	25.0					16																	88066767		2198	4299	6497	SO:0001819	synonymous_variant	54971	4	121364	30				g.chr16:88066767G>A	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.1092G>A	chr16.hg19:g.88066767G>A		1					BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000286122.7_Silent_p.P364P	p.P364P	NM_001173543.1	NP_001167014.1	1	2	3	2.195832	Q8N9N5	BANP_HUMAN		9	1313	+			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	0	1	hg19	c.1092G>A	CCDS54054.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	1		2	2	2	0		0	0	32		32	29	1	2.060000	-4.566931	1	0.170000	NM_017869			10	9		201	175	0		1	1		0	0	32	0		9.942759e-01	4.680656e-01	0	5	0	26	0	10	201
ZFPM1	161882	broad.mit.edu	37	16	88600853	88600853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	ENST00000319555.3	+	10	2809	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	829					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCACAGCCTCGAGGCCTACC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3	1.000000	0.770000	1	9.900000e-01	0.990000	0.985816	0.990000	1.000000																										0				4						c.(2485-2487)ctC>ctT		zinc finger protein, FOG family member 1							4.0	5.0	5.0					16																	88600853		1615	3521	5136	SO:0001819	synonymous_variant	161882	1	111920	27				g.chr16:88600853C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2487C>T	chr16.hg19:g.88600853C>T		1						p.L829L	NM_153813.2	NP_722520.2	1	2	3	2.195832	Q8IX07	FOG1_HUMAN		10	2809	+				Silent	SNP	ENST00000319555.3	0	1	hg19	c.2487C>T	CCDS32502.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-15.083780	1	0.170000				8	8		57	57	0		1	0		0	0	10	0		9.909267e-01	0	0	0	0	1	0	8	57
ZFPM1	161882	broad.mit.edu	37	16	88601210	88601210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	ENST00000319555.3	+	10	3166	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	948					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ccccgccggcgcccccCTCCT	0.791																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3	1.000000	0.630000	1	8.400000e-01	0.990000	0.944605	0.990000	1.000000																										0				4						c.(2842-2844)gcG>gcA		zinc finger protein, FOG family member 1							7.0	9.0	9.0					16																	88601210		1898	4030	5928	SO:0001819	synonymous_variant	161882	0	0					g.chr16:88601210G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2844G>A	chr16.hg19:g.88601210G>A		1						p.A948A	NM_153813.2	NP_722520.2	1	2	3	2.195832	Q8IX07	FOG1_HUMAN		10	3166	+				Silent	SNP	ENST00000319555.3	0	1	hg19	c.2844G>A	CCDS32502.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.791	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2	0	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.325850	1	0.170000				13	13		139	139	0		1	0		0	0	22	0		9.996105e-01	1.309576e-01	0	0	0	7	0	13	139
ZC3H18	124245	broad.mit.edu	37	16	88643732	88643732	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	67						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(199-201)tcC>tcT		zinc finger CCCH-type containing 18							33.0	35.0	35.0					16																	88643732		2197	4300	6497	SO:0001819	synonymous_variant	124245	4	121390	30				g.chr16:88643732C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.201C>T	chr16.hg19:g.88643732C>T		1					ZC3H18_ENST00000452588.2_Silent_p.S67S	p.S67S	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		2	401	+			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	1	1	hg19	c.201C>T	CCDS10967.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-4.397225	1	0.170000	NM_144604			52	51		160	155	1		1	1		0	0	31	0		1	9.999637e-01	0	5	0	46	0	52	160
ZC3H18	124245	broad.mit.edu	37	16	88643861	88643861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	110						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACCGGACAAGCGACCTTAGGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.250000	7.900000e-01	3.900000e-01	0.560000	0.594575	0.560000	1.000000																										0				42						c.(328-330)agC>agT		zinc finger CCCH-type containing 18							47.0	47.0	47.0					16																	88643861		2198	4300	6498	SO:0001819	synonymous_variant	124245	0	0					g.chr16:88643861C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.330C>T	chr16.hg19:g.88643861C>T		1					ZC3H18_ENST00000452588.2_Silent_p.S110S	p.S110S	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		2	530	+			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	1	1	hg19	c.330C>T	CCDS10967.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-9.903525	1	0.170000	NM_144604			7	7		158	155	0		1	0		0	0	26	0		9.795975e-01	8.670711e-01	0	1	0	84	0	7	158
ZC3H18	124245	broad.mit.edu	37	16	88677771	88677771	+	Silent	SNP	C	C	T	rs545485000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	ENST00000301011.5	+	8	1502	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	ZC3H18_ENST00000452588.2_Silent_p.R458R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	434						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagggagcgcgagcgagagc	0.711																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42						c.(1300-1302)cgC>cgT		zinc finger CCCH-type containing 18							21.0	20.0	20.0					16																	88677771		2011	3961	5972	SO:0001819	synonymous_variant	124245	0	0					g.chr16:88677771C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1302C>T	chr16.hg19:g.88677771C>T		1					ZC3H18_ENST00000452588.2_Silent_p.R458R	p.R434R	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		8	1502	+			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	0	1	hg19	c.1302C>T	CCDS10967.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	0	0	0		2	2	2	0		0	0	8		8	4	1	2.060000	-20.000000	1	0.170000	NM_144604			14	9		29	10	0		1	1		0	0	8	0		9.869402e-01	9.986562e-01	0	5	0	24	0	14	29
ZC3H18	124245	broad.mit.edu	37	16	88677775	88677775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	ENST00000301011.5	+	8	1506	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	436						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgcgagcgagagcggga	0.716																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				42						c.(1306-1308)Cga>Tga		zinc finger CCCH-type containing 18							23.0	21.0	22.0					16																	88677775		2004	3945	5949	SO:0001587	stop_gained	124245	0	0					g.chr16:88677775C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1306C>T	chr16.hg19:g.88677775C>T	ENSP00000301011:p.Arg436*	1					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	p.R436*	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		8	1506	+			Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	0	1	hg19	c.1306C>T	CCDS10967.1	1	.	.	.	.	.	.	.	.	.	.	c	40	8.273678	0.98737	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.185891	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4202	13.8736	0.63638	0.0:1.0:0.0:0.0	.	.	.	.	X	436;460	.	ENSP00000301011:R436X	R	+	1	2	2	ZC3H18	87205276	87205276	1.000000	0.71417	0.978000	0.43139	0.766000	0.43426	2.287000	0.43505	2.064000	0.61679	0.457000	0.33378	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	0		2	2	2	0		0	0	8		8	4	1	2.060000	-20.000000	1	0.170000	NM_144604			12	9		27	11	0		1	1		0	0	8	0		9.847877e-01	9.986337e-01	0	5	0	27	0	12	27
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	G	A	rs370135967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1519-1521)ccG>ccA		zinc finger CCCH-type containing 18		G		0,4396		0,0,2198	50.0	52.0	52.0		1521	-11.3	0.1	16		52	1,8599		0,1,4299	no	coding-synonymous	ZC3H18	NM_144604.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		507/954	88688650	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	124245	2	121410	36				g.chr16:88688650G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>A	chr16.hg19:g.88688650G>A		1					ZC3H18_ENST00000452588.2_Silent_p.P531P	p.P507P	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		9	1721	+			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	1	1	hg19	c.1521G>A	CCDS10967.1	1	.	.	.	.	.	.	.	.	.	.	G	2.574	-0.298990	0.05532	0.0	1.16E-4	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	5.64	-11.3	0.00108	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	5	0.87932	D	0	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	H	331	.	ENSP00000442341:R331H	R	+	2	0	0	ZC3H18	87216151	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-5.508754	1	0.170000	NM_144604			66	65		182	182	1		1	1		0	0	26	0		1	1	0	12	0	66	0	66	182
ZC3H18	124245	broad.mit.edu	37	16	88690390	88690390	+	Silent	SNP	G	G	A	rs200434508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	606	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14940	0.0		0.0	False		,,,				2504	0.0				Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1816-1818)ccG>ccA		zinc finger CCCH-type containing 18							96.0	88.0	91.0					16																	88690390		2198	4300	6498	SO:0001819	synonymous_variant	124245	1	121410	32				g.chr16:88690390G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1818G>A	chr16.hg19:g.88690390G>A		1					ZC3H18_ENST00000452588.2_Silent_p.P630P	p.P606P	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		11	2018	+			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	1	1	hg19	c.1818G>A	CCDS10967.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_144604			127	125		526	512	1		1	1		0	0	85	0		1	9.999998e-01	0	35	0	57	0	127	526
ZC3H18	124245	broad.mit.edu	37	16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	664	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1990-1992)Gac>Tac		zinc finger CCCH-type containing 18							37.0	55.0	49.0					16																	88691101		2198	4300	6498	SO:0001583	missense	124245	0	0					g.chr16:88691101G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1990G>T	chr16.hg19:g.88691101G>T	ENSP00000301011:p.Asp664Tyr	1					ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	p.D664Y	NM_144604.3	NP_653205.3	1	2	3	2.195832	Q86VM9	ZCH18_HUMAN		12	2190	+			Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	1	1	hg19	c.1990G>T	CCDS10967.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746622	0.30955	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.33216	1.42;1.42	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.098661	0.64402	D	0.000001	T	0.49847	0.1581	L	0.51422	1.61	0.49582	D	0.999801	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.49670	-0.8915	10	0.87932	D	0	-20.5211	17.3162	0.87225	0.0:0.0:1.0:0.0	.	688;664	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	664;632;688	ENSP00000301011:D664Y;ENSP00000416951:D688Y	ENSP00000289509:D632Y	D	+	1	0	0	ZC3H18	87218602	87218602	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	5.129000	0.64739	2.527000	0.85204	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_144604			86	86		222	217	1		1	1		0	0	33	0		1	1	0	14	0	90	0	86	222
IL17C	27189	broad.mit.edu	37	16	88706252	88706252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706252G>T	ENST00000244241.4	+	3	415	c.366G>T	c.(364-366)caG>caT	p.Q122H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	122					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTATCCACAGAAGCTGGCCT	0.667																																						ENST00000244241.4	1.000000	0.280000	1	5.000000e-01	0.810000	0.772939	0.810000	1.000000																										0				2						c.(364-366)caG>caT		interleukin 17C							22.0	29.0	27.0					16																	88706252		2095	4213	6308	SO:0001583	missense	27189	0	0					g.chr16:88706252G>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.366G>T	chr16.hg19:g.88706252G>T	ENSP00000244241:p.Gln122His	1						p.Q122H	NM_013278.3	NP_037410.1	1	2	3	2.195832	Q9P0M4	IL17C_HUMAN		3	415	+			Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	0	1	hg19	c.366G>T	CCDS42217.1	0	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995595	0.35226	.	.	ENSG00000124391	ENST00000244241	T	0.56611	0.45	4.66	0.998	0.19857	4.66	0.998	0.19857	.	0.101773	0.42053	D	0.000763	T	0.56891	0.2016	M	0.61703	1.905	0.27750	N	0.944196	D	0.61697	0.99	P	0.55455	0.776	T	0.52419	-0.8578	10	0.56958	D	0.05	-18.9878	7.2541	0.26166	0.2758:0.159:0.5652:0.0	.	122	Q9P0M4	IL17C_HUMAN	H	122	ENSP00000244241:Q122H	ENSP00000244241:Q122H	Q	+	3	2	2	IL17C	87233753	87233753	0.362000	0.24980	0.648000	0.29521	0.009000	0.06853	0.326000	0.19646	0.081000	0.16988	-1.134000	0.01955	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	0	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-8.503617	1	0.170000	NM_013278			4	4		64	64	0		1	0		0	0	11	0		8.924257e-01	0	0	0	0	1	0	4	64
IL17C	27189	broad.mit.edu	37	16	88706264	88706264	+	Silent	SNP	C	C	T	rs375212710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	ENST00000244241.4	+	3	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	126					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGCTGGCCTTCGCCGAGTGCC	0.667																																						ENST00000244241.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(376-378)ttC>ttT		interleukin 17C		C		1,4203		0,1,2101	24.0	30.0	28.0		378	-2.4	0.2	16		28	0,8432		0,0,4216	no	coding-synonymous	IL17C	NM_013278.3		0,1,6317	TT,TC,CC		0.0,0.0238,0.0079		126/198	88706264	1,12635	2102	4216	6318	SO:0001819	synonymous_variant	27189	2	120148	31				g.chr16:88706264C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.378C>T	chr16.hg19:g.88706264C>T		1						p.F126F	NM_013278.3	NP_037410.1	1	2	3	2.195832	Q9P0M4	IL17C_HUMAN		3	427	+			Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	1	1	hg19	c.378C>T	CCDS42217.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_013278			24	24		56	55	1		1			0	0	14	0		9.999999e-01	0	0	0	0	0	0	24	56
MVD	4597	broad.mit.edu	37	16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T	rs202128233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	253					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTCAGCTGGGCGAAGCTGGGG	0.642																																						ENST00000301012.3	1.000000	0.620000	1	9.100000e-01	0.990000	0.959629	0.990000	1.000000																										0				12						c.(757-759)Gcc>Acc		mevalonate (diphospho) decarboxylase							230.0	174.0	193.0					16																	88721747		2193	4295	6488	SO:0001583	missense	4597	9	120718	32				g.chr16:88721747C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.757G>A	chr16.hg19:g.88721747C>T	ENSP00000301012:p.Ala253Thr	1					MVD_ENST00000568709.1_5'Flank	p.A253T	NM_002461.1	NP_002452.1	1	2	3	2.195832	P53602	MVD1_HUMAN		7	786	-			Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	0	1	hg19	c.757G>A	CCDS10968.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.370501|4.370501	0.82573|0.82573	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000301012|ENST00000378400	T|.	0.37915|.	1.17|.	4.53|4.53	4.53|4.53	0.55603|0.55603	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.161617|.	0.53938|.	D|.	0.000051|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.58520|.	0.84|.	T|T	0.82362|0.82362	-0.0495|-0.0495	10|6	0.51188|0.66056	T|D	0.08|0.02	-20.2679|-20.2679	17.6298|17.6298	0.88103|0.88103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	P53602|.	MVD1_HUMAN|.	T|H	253|81	ENSP00000301012:A253T|.	ENSP00000301012:A253T|ENSP00000367653:R81H	A|R	-|-	1|2	0|0	0|0	MVD|MVD	87249248|87249248	87249248|87249248	0.982000|0.982000	0.34865|0.34865	0.039000|0.039000	0.18376|0.18376	0.432000|0.432000	0.31715|0.31715	5.257000|5.257000	0.65473|0.65473	2.244000|2.244000	0.73946|0.73946	0.491000|0.491000	0.48974|0.48974	GCC|CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-6.415709	1	0.170000	NM_002461			8	8		73	73	1		1	1		0	0	14	0		9.906008e-01	9.997654e-01	0	30	0	137	0	8	73
MVD	4597	broad.mit.edu	37	16	88723885	88723885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88723885G>A	ENST00000301012.3	-	4	391	c.362C>T	c.(361-363)gCt>gTt	p.A121V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	121					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGGCCCGCAGCCGTGGGGAA	0.687																																						ENST00000301012.3	0.990000	0.220000	7.500000e-01	3.500000e-01	0.520000	0.556974	0.520000	1.000000																										0				12						c.(361-363)gCt>gTt		mevalonate (diphospho) decarboxylase							31.0	26.0	27.0					16																	88723885		2197	4298	6495	SO:0001583	missense	4597	0	0					g.chr16:88723885G>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.362C>T	chr16.hg19:g.88723885G>A	ENSP00000301012:p.Ala121Val	1					MVD_ENST00000568709.1_5'UTR	p.A121V	NM_002461.1	NP_002452.1	1	2	3	2.195832	P53602	MVD1_HUMAN		4	391	-			Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	0	1	hg19	c.362C>T	CCDS10968.1	0	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450964	0.84209	.	.	ENSG00000167508	ENST00000301012	D	0.86297	-2.1	5.18	5.18	0.71444	5.18	5.18	0.71444	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104735	0.64402	D	0.000003	D	0.95370	0.8497	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96491	0.9364	10	0.87932	D	0	-19.8806	18.6462	0.91410	0.0:0.0:1.0:0.0	.	121	P53602	MVD1_HUMAN	V	121	ENSP00000301012:A121V	ENSP00000301012:A121V	A	-	2	0	0	MVD	87251386	87251386	1.000000	0.71417	0.954000	0.39281	0.274000	0.26718	6.912000	0.75753	2.574000	0.86865	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-9.030918	1	0.170000	NM_002461			6	6		148	145	0		1	1		0	0	13	0		9.637592e-01	9.544215e-01	0	11	0	129	0	6	148
SNAI3	333929	broad.mit.edu	37	16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T	rs576263427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	249					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				6						c.(745-747)cGc>cAc		snail family zinc finger 3							69.0	56.0	61.0					16																	88744989		2197	4300	6497	SO:0001583	missense	333929	3	121238	33				g.chr16:88744989C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.746G>A	chr16.hg19:g.88744989C>T	ENSP00000327968:p.Arg249His	1					SNAI3-AS1_ENST00000563261.1_RNA	p.R249H	NM_178310.3	NP_840101.1	1	2	3	2.195832	Q3KNW1	SNAI3_HUMAN		3	832	-			Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	1	1	hg19	c.746G>A	CCDS32505.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.054378	0.93793	.	.	ENSG00000185669	ENST00000332281	T	0.36157	1.27	5.09	5.09	0.68999	5.09	5.09	0.68999	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	0.51449	0.1675	L	0.38733	1.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49184	-0.8966	10	0.48119	T	0.1	-54.8198	17.6108	0.88053	0.0:1.0:0.0:0.0	.	249	Q3KNW1	SNAI3_HUMAN	H	249	ENSP00000327968:R249H	ENSP00000327968:R249H	R	-	2	0	0	SNAI3	87272490	87272490	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.647000	0.67923	2.521000	0.84997	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				31	31		201	196	1		1	0		0	0	38	0		1	5.420938e-01	0	1	0	12	0	31	201
TMEM186	25880	broad.mit.edu	37	16	8890416	8890416	+	Missense_Mutation	SNP	C	C	T	rs147051924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8890416C>T	ENST00000333050.6	-	2	68	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	12						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						AGCTTTTCCCCGAAACCTACG	0.552																																						ENST00000333050.6	1.000000	0.140000	1	2.100000e-01	0.310000	0.428135	0.310000	0.280000																										0				9						c.(34-36)cGg>cAg		transmembrane protein 186		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	71.0	75.0	74.0		35	-7.4	0.0	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	TMEM186	NM_015421.3	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	12/214	8890416	1,12993	2197	4300	6497	SO:0001583	missense	25880	1	121412	36				g.chr16:8890416C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.35G>A	chr16.hg19:g.8890416C>T	ENSP00000331640:p.Arg12Gln	0					PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank	p.R12Q	NM_015421.3	NP_056236.2	1	2	3	2.056757	Q96B77	TM186_HUMAN		2	68	-			B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	0	1	hg19	c.35G>A	CCDS10535.1	0	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255064	0.22965	2.28E-4	0.0	ENSG00000184857	ENST00000333050	.	.	.	5.05	-7.42	0.01388	5.05	-7.42	0.01388	.	1.353990	0.05738	N	0.600896	T	0.07548	0.0190	N	0.00926	-1.1	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.25572	-1.0128	9	0.21540	T	0.41	-7.2867	4.1844	0.10392	0.0928:0.1276:0.2435:0.5362	.	12	Q96B77	TM186_HUMAN	Q	12	.	ENSP00000331640:R12Q	R	-	2	0	0	TMEM186	8797917	8797917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-0.985000	0.03503	-0.818000	0.03119	CGG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.053878	1	0.170000	NM_015421			9	9		375	369	0		1	0		0	0	78	0		9.939258e-01	5.454263e-01	0	1	0	71	0	9	375
SNAI3	333929	broad.mit.edu	37	16	88747821	88747821	+	Silent	SNP	C	C	T	rs200850230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	126					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16415	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5	0.890000	0.510000	8.000000e-01	6.000000e-01	0.690000	0.705612	0.690000	0.690000																										0				6						c.(376-378)ccG>ccA		snail family zinc finger 3							58.0	70.0	66.0					16																	88747821		2198	4299	6497	SO:0001819	synonymous_variant	333929	4	121366	41				g.chr16:88747821C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.378G>A	chr16.hg19:g.88747821C>T		1					SNAI3-AS1_ENST00000563261.1_RNA	p.P126P	NM_178310.3	NP_840101.1	1	2	3	2.195832	Q3KNW1	SNAI3_HUMAN		2	464	-			Q86SU5	Silent	SNP	ENST00000332281.5	1	1	hg19	c.378G>A	CCDS32505.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1	1	0	1		2	2	2	0		0	0	146		146	140	1	2.060000	-7.187770	1	0.170000				48	47		833	820	0		1	0		0	0	146	0		1	1.611726e-01	0	1	0	12	0	48	833
TRAPPC2L	51693	broad.mit.edu	37	16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000301021.3	+	2	118	c.53G>A	c.(52-54)cGc>cAc	p.R18H	TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|GALNS_ENST00000568311.1_5'Flank|GALNS_ENST00000542788.1_5'Flank|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000268695.5_5'Flank|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000564365.1_5'UTR			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	18					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCTACATTCGCAGCACCCCT	0.557											OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(52-54)cGc>cAc		trafficking protein particle complex 2-like							166.0	147.0	154.0					16																	88925046		2198	4300	6498	SO:0001583	missense	51693	0	0					g.chr16:88925046G>A	BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.53G>A	chr16.hg19:g.88925046G>A	ENSP00000301021:p.Arg18His	1		OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1263	GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000561840.1_Intron|GALNS_ENST00000268695.5_5'Flank|GALNS_ENST00000565364.1_5'Flank|GALNS_ENST00000569433.1_5'Flank|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H	p.R18H			1	2	3	2.195832	Q9UL33	TPC2L_HUMAN		2	118	+			B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	ENST00000301021.3	1	1	hg19	c.53G>A	CCDS10971.1	1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214329	0.39102	.	.	ENSG00000167515	ENST00000301021	D	0.83250	-1.7	5.23	5.23	0.72850	5.23	5.23	0.72850	Longin-like (1);	0.055567	0.64402	N	0.000001	T	0.77785	0.4182	L	0.50333	1.59	0.80722	D	1	B;B	0.32573	0.084;0.376	B;B	0.30572	0.016;0.117	T	0.75833	-0.3178	10	0.35671	T	0.21	-13.922	13.1498	0.59482	0.0783:0.0:0.9217:0.0	.	18;18	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	H	18	ENSP00000301021:R18H	ENSP00000301021:R18H	R	+	2	0	0	TRAPPC2L	87452547	87452547	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	4.661000	0.61518	2.602000	0.87976	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	1	0	1		2	2	2	0		0	0	218		218	216	1	2.060000	-20.000000	1	0.170000	NM_016209			270	268		745	729	1		1	1		0	0	218	0		1	1	0	104	0	197	0	270	745
CBFA2T3	863	broad.mit.edu	37	16	88945800	88945800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88945800G>A	ENST00000268679.4	-	11	1936	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	514					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCGCTTTGCGCTCCGCGTCC	0.662			T	RUNX1	AML																																	ENST00000268679.4	0.500000	0.130000	3.900000e-01	1.900000e-01	0.280000	0.298942	0.280000	0.270000				Dom	yes			Dom	yes		16	16q24	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""				L	L	RUNX1		AML		0				17						c.(1540-1542)Cgc>Tgc		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							82.0	69.0	73.0					16																	88945800		2198	4299	6497	SO:0001583	missense	863	3	121326	34				g.chr16:88945800G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1540C>T	chr16.hg19:g.88945800G>A	ENSP00000268679:p.Arg514Cys	1					RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C	p.R514C	NM_005187.5	NP_005178.4	1	2	3	2.195832	O75081	MTG16_HUMAN		11	1936	-			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	0	1	hg19	c.1540C>T	CCDS10972.1	0	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469413	0.63625	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.954	T	0.70920	-0.4741	10	0.87932	D	0	-21.2643	17.6401	0.88133	0.0:0.0:1.0:0.0	.	514;428	O75081;O75081-2	MTG16_HUMAN;.	C	428;514;476;438;428	ENSP00000332122:R428C;ENSP00000268679:R514C;ENSP00000395739:R476C;ENSP00000401254:R438C;ENSP00000353449:R428C	ENSP00000268679:R514C	R	-	1	0	0	CBFA2T3	87473301	87473301	1.000000	0.71417	0.743000	0.31040	0.208000	0.24298	5.889000	0.69766	2.145000	0.66743	0.462000	0.41574	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-7.770924	1	0.170000	NM_005187			8	8		371	366	0		1	0		0	0	60	0		9.889635e-01	2.852918e-02	0	0	0	11	0	8	371
PMM2	5373	broad.mit.edu	37	16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T	rs200503569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000268261.4	+	4	389	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000537352.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	108			A -> V (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9	GRCh37	CM971223	PMM2	M		c.(322-324)gCg>gTg		phosphomannomutase 2							90.0	87.0	88.0					16																	8900240		2197	4300	6497	SO:0001583	missense	5373	2	121412	33				g.chr16:8900240C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.323C>T	chr16.hg19:g.8900240C>T	ENSP00000268261:p.Ala108Val	0					PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V	p.A108V	NM_000303.2	NP_000294.1	1	2	3	2.056757	O15305	PMM2_HUMAN		4	389	+			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	1	1	hg19	c.323C>T	CCDS10536.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335558	0.60853	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.98777	-5.13;-5.13	5.56	5.56	0.83823	5.56	5.56	0.83823	HAD-like domain (1);	0.152193	0.64402	D	0.000017	D	0.97939	0.9322	M	0.85859	2.78	0.80722	D	1	B;B;P	0.37781	0.033;0.393;0.608	B;B;B	0.31101	0.004;0.124;0.07	D	0.98847	1.0757	10	0.59425	D	0.04	-10.7806	18.5214	0.90954	0.0:1.0:0.0:0.0	.	25;108;108	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	V	108;25	ENSP00000268261:A108V;ENSP00000445879:A25V	ENSP00000268261:A108V	A	+	2	0	0	PMM2	8807741	8807741	0.975000	0.34042	0.250000	0.24296	0.890000	0.51754	2.371000	0.44248	2.608000	0.88229	0.591000	0.81541	GCG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.329575	1	0.170000	NM_000303			63	63		268	265	1		1	1		0	0	56	0		1	1	0	73	0	192	0	63	268
CBFA2T3	863	broad.mit.edu	37	16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A	rs377163386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687			T	RUNX1	AML																																	ENST00000268679.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		16	16q24	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""				L	L	RUNX1		AML		0				17						c.(1087-1089)Cgg>Tgg		core-binding factor, runt domain, alpha subunit 2; translocated to, 3		G	TRP/ARG,TRP/ARG	0,4378		0,0,2189	59.0	55.0	56.0		1087,829	4.1	1.0	16		56	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	CBFA2T3	NM_005187.5,NM_175931.2	101,101	0,1,6480	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	363/654,277/568	88951484	1,12961	2189	4292	6481	SO:0001583	missense	863	7	120346	38				g.chr16:88951484G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1087C>T	chr16.hg19:g.88951484G>A	ENSP00000268679:p.Arg363Trp	1					RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000565053.1_RNA	p.R363W	NM_005187.5	NP_005178.4	1	2	3	2.195832	O75081	MTG16_HUMAN		7	1483	-			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	1	1	hg19	c.1087C>T	CCDS10972.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133312	0.56828	0.0	1.16E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.57273	1.04;0.41;0.69;1.04;1.04	4.12	4.12	0.48240	4.12	4.12	0.48240	.	0.331834	0.26719	N	0.022859	T	0.69931	0.3166	M	0.78637	2.42	0.47905	D	0.999547	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.60415	0.874;0.614;0.762;0.858	T	0.76457	-0.2952	10	0.87932	D	0	-13.385	16.5087	0.84278	0.0:0.0:1.0:0.0	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	277;363;325;287;277	ENSP00000332122:R277W;ENSP00000268679:R363W;ENSP00000395739:R325W;ENSP00000401254:R287W;ENSP00000353449:R277W	ENSP00000268679:R363W	R	-	1	2	2	CBFA2T3	87478985	87478985	1.000000	0.71417	0.967000	0.41034	0.075000	0.17131	1.216000	0.32443	2.282000	0.76494	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-6.722993	1	0.170000	NM_005187			69	69		160	155	1		1	0		0	0	34	0		1	8.040424e-01	0	0	0	9	0	69	160
ACSF3	197322	broad.mit.edu	37	16	89167209	89167209	+	Silent	SNP	G	G	A	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000317447.4	+	3	497	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.S40S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677																																						ENST00000317447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(118-120)tcG>tcA		acyl-CoA synthetase family member 3							23.0	27.0	26.0					16																	89167209		2196	4297	6493	SO:0001819	synonymous_variant	197322	34	121374	45				g.chr16:89167209G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.120G>A	chr16.hg19:g.89167209G>A		1					ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	p.S40S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	1	2	3	2.195832	Q4G176	ACSF3_HUMAN		3	497	+			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	1	1	hg19	c.120G>A	CCDS10974.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.328488	1	0.170000	NM_174917			65	63		261	259	1		1	1		0	0	47	0		1	9.969735e-01	0	7	0	31	0	65	261
ACSF3	197322	broad.mit.edu	37	16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000317447.4	+	3	607	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	77					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652																																						ENST00000317447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(229-231)cGc>cAc		acyl-CoA synthetase family member 3							39.0	40.0	39.0					16																	89167319		2198	4300	6498	SO:0001583	missense	197322	0	0					g.chr16:89167319G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.230G>A	chr16.hg19:g.89167319G>A	ENSP00000320646:p.Arg77His	1					ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	p.R77H	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	1	2	3	2.195832	Q4G176	ACSF3_HUMAN		3	607	+			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	1	1	hg19	c.230G>A	CCDS10974.1	1	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951502	0.18431	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.51071	0.72;0.72;0.72	5.27	2.27	0.28462	5.27	2.27	0.28462	AMP-dependent synthetase/ligase (1);	0.754413	0.13650	N	0.372372	T	0.49253	0.1546	M	0.87682	2.9	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.49808	-0.8900	10	0.49607	T	0.09	-11.1186	5.0448	0.14477	0.3073:0.1421:0.5507:0.0	.	77	Q4G176	ACSF3_HUMAN	H	77	ENSP00000320646:R77H;ENSP00000440734:R77H;ENSP00000384627:R77H	ENSP00000320646:R77H	R	+	2	0	0	ACSF3	87694820	87694820	0.002000	0.14202	0.222000	0.23844	0.268000	0.26511	1.032000	0.30178	0.235000	0.21160	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	0		2	2	2	0		0	0	48		48	43	1	2.060000	-20.000000	1	0.170000	NM_174917			55	55		292	281	1		1	1		0	0	48	0		1	9.988102e-01	0	14	0	42	0	55	292
ACSF3	197322	broad.mit.edu	37	16	89167347	89167347	+	Silent	SNP	C	C	T	rs560101290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000317447.4	+	3	635	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.C86C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	86					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15196	0.0		0.0	False		,,,				2504	0.001					ENST00000317447.4	1.000000	0.510000	9.400000e-01	6.300000e-01	0.770000	0.786699	0.770000	1.000000																										0				15						c.(256-258)tgC>tgT		acyl-CoA synthetase family member 3							43.0	44.0	44.0					16																	89167347		2198	4299	6497	SO:0001819	synonymous_variant	197322	0	0					g.chr16:89167347C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.258C>T	chr16.hg19:g.89167347C>T		1					ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	p.C86C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	1	2	3	2.195832	Q4G176	ACSF3_HUMAN		3	635	+			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	1	1	hg19	c.258C>T	CCDS10974.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	0		2	2	2	0		0	0	63		63	57	1	2.060000	-3.142487	1	0.170000	NM_174917			24	23		372	352	1		1	1		0	0	63	0		9.999994e-01	8.289090e-01	0	5	0	47	0	24	372
ACSF3	197322	broad.mit.edu	37	16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000317447.4	+	3	702	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	109					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647																																						ENST00000317447.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(325-327)Gtc>Atc		acyl-CoA synthetase family member 3							85.0	72.0	76.0					16																	89167414		2198	4300	6498	SO:0001583	missense	197322	1	121412	34				g.chr16:89167414G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.325G>A	chr16.hg19:g.89167414G>A	ENSP00000320646:p.Val109Ile	1					ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	p.V109I	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	1	2	3	2.195832	Q4G176	ACSF3_HUMAN		3	702	+			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	1	1	hg19	c.325G>A	CCDS10974.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946386	0.53079	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.163204	0.56097	D	0.000040	T	0.54532	0.1864	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.51356	-0.8716	10	0.41790	T	0.15	-40.9689	18.891	0.92403	0.0:0.0:1.0:0.0	.	109	Q4G176	ACSF3_HUMAN	I	109	ENSP00000320646:V109I;ENSP00000440734:V109I;ENSP00000384627:V109I	ENSP00000320646:V109I	V	+	1	0	0	ACSF3	87694915	87694915	1.000000	0.71417	0.113000	0.21522	0.035000	0.12851	4.632000	0.61311	2.460000	0.83146	0.655000	0.94253	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_174917			95	95		309	305	1		1	1		0	0	58	0		1	9.983666e-01	0	5	0	29	0	95	309
CDH15	1013	broad.mit.edu	37	16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627																																						ENST00000289746.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1051-1053)gCt>gAt		cadherin 15, type 1, M-cadherin (myotubule)							26.0	26.0	26.0					16																	89256724		2194	4297	6491	SO:0001583	missense	1013	0	0					g.chr16:89256724C>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1052C>A	chr16.hg19:g.89256724C>A	ENSP00000289746:p.Ala351Asp	1						p.A351D	NM_004933.2	NP_004924.1	1	2	3	2.195832	P55291	CAD15_HUMAN		8	1117	+				Missense_Mutation	SNP	ENST00000289746.2	1	1	hg19	c.1052C>A	CCDS10976.1	1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333505	0.24167	.	.	ENSG00000129910	ENST00000289746	T	0.50277	0.75	4.37	2.29	0.28610	4.37	2.29	0.28610	Cadherin (4);Cadherin-like (1);	0.785759	0.10424	U	0.676280	T	0.36963	0.0986	N	0.26042	0.785	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.15037	-1.0451	10	0.36615	T	0.2	.	8.5853	0.33655	0.0:0.7586:0.1529:0.0885	.	351	P55291	CAD15_HUMAN	D	351	ENSP00000289746:A351D	ENSP00000289746:A351D	A	+	2	0	0	CDH15	87784225	87784225	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	2.379000	0.44318	0.832000	0.34804	0.555000	0.69702	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_004933			41	40		95	93	1		1			0	0	18	0		1	0	0	0	0	0	0	41	95
CDH15	1013	broad.mit.edu	37	16	89256765	89256765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256765C>T	ENST00000289746.2	+	8	1158	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCCGCGTGCATGTGCAGGA	0.652																																						ENST00000289746.2	1.000000	0.340000	9.800000e-01	5.000000e-01	0.720000	0.729151	0.720000	1.000000																										0				18						c.(1093-1095)Cat>Tat		cadherin 15, type 1, M-cadherin (myotubule)							41.0	39.0	40.0					16																	89256765		2196	4299	6495	SO:0001583	missense	1013	0	0					g.chr16:89256765C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1093C>T	chr16.hg19:g.89256765C>T	ENSP00000289746:p.His365Tyr	1						p.H365Y	NM_004933.2	NP_004924.1	1	2	3	2.195832	P55291	CAD15_HUMAN		8	1158	+				Missense_Mutation	SNP	ENST00000289746.2	0	1	hg19	c.1093C>T	CCDS10976.1	0	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117686	0.08881	.	.	ENSG00000129910	ENST00000289746	T	0.51817	0.69	4.37	-0.792	0.10925	4.37	-0.792	0.10925	Cadherin (4);Cadherin-like (2);	1.865220	0.03230	U	0.178773	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.28744	-1.0034	10	0.66056	D	0.02	.	1.7201	0.02910	0.3857:0.3398:0.1466:0.1279	.	365	P55291	CAD15_HUMAN	Y	365	ENSP00000289746:H365Y	ENSP00000289746:H365Y	H	+	1	0	0	CDH15	87784266	87784266	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-1.673000	0.01951	0.176000	0.19873	0.555000	0.69702	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	0	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-11.602350	1	0.170000	NM_004933			8	8		139	134	0		1			0	0	20	0		9.884751e-01	0	0	0	0	0	0	8	139
CDH15	1013	broad.mit.edu	37	16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	391	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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672																																						ENST00000289746.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1171-1173)Ggc>Tgc		cadherin 15, type 1, M-cadherin (myotubule)							25.0	24.0	24.0					16																	89256843		2194	4296	6490	SO:0001583	missense	1013	0	0					g.chr16:89256843G>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1171G>T	chr16.hg19:g.89256843G>T	ENSP00000289746:p.Gly391Cys	1						p.G391C	NM_004933.2	NP_004924.1	1	2	3	2.195832	P55291	CAD15_HUMAN		8	1236	+				Missense_Mutation	SNP	ENST00000289746.2	1	1	hg19	c.1171G>T	CCDS10976.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697553	0.48307	.	.	ENSG00000129910	ENST00000289746	T	0.70399	-0.48	4.52	4.52	0.55395	4.52	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000070	D	0.87111	0.6096	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90522	0.4489	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	391	P55291	CAD15_HUMAN	C	391	ENSP00000289746:G391C	ENSP00000289746:G391C	G	+	1	0	0	CDH15	87784344	87784344	1.000000	0.71417	0.134000	0.22075	0.003000	0.03518	7.457000	0.80775	2.064000	0.61679	0.455000	0.32223	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_004933			23	23		70	68	1		1			0	0	15	0		9.999998e-01	0	0	0	0	0	0	23	70
ANKRD11	29123	broad.mit.edu	37	16	89341252	89341252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2561					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)				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)		TGTAGACCTCGGAGTCCAGCA	0.647																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(7681-7683)tcC>tcT		ankyrin repeat domain 11							59.0	58.0	58.0					16																	89341252		2198	4300	6498	SO:0001819	synonymous_variant	29123	4	121410	40				g.chr16:89341252G>A	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.7683C>T	chr16.hg19:g.89341252G>A		1					ANKRD11_ENST00000378330.2_Silent_p.S2561S	p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		11	8143	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.7683C>T	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0		2	2	2	0		0	0	72		72	71	1	2.060000	-5.352826	1	0.170000	NM_013275			119	118		353	348	1		1	1		0	0	72	0		1	1	0	13	0	69	0	119	353
ANKRD11	29123	broad.mit.edu	37	16	89341273	89341273	+	Silent	SNP	G	G	T	rs139657234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2554					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)				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)		GCATCGTGCAGGCGCTGAATG	0.622																																						ENST00000301030.4	0.680000	0.260000	5.700000e-01	3.400000e-01	0.440000	0.463390	0.440000	0.450000																										0				83						c.(7660-7662)gcC>gcA		ankyrin repeat domain 11							64.0	60.0	61.0					16																	89341273		2198	4300	6498	SO:0001819	synonymous_variant	29123	0	0					g.chr16:89341273G>T	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.7662C>A	chr16.hg19:g.89341273G>T		1					ANKRD11_ENST00000378330.2_Silent_p.A2554A	p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		11	8122	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.7662C>A	CCDS32513.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	0		2	2	2	0		0	0	67		67	65	1	2.060000	-15.366140	1	0.170000	NM_013275			16	17		447	443	0		1	1		0	0	67	0		9.999319e-01	9.591039e-01	0	8	0	143	0	16	447
ANKRD11	29123	broad.mit.edu	37	16	89345738	89345738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2404					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)				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)		GCGTCTGCTGCGTGGACGTGT	0.682																																						ENST00000301030.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996745	0.990000	1.000000																										0				83						c.(7210-7212)acG>acA		ankyrin repeat domain 11							19.0	18.0	18.0					16																	89345738		2195	4299	6494	SO:0001819	synonymous_variant	29123	1	121380	27				g.chr16:89345738C>T	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.7212G>A	chr16.hg19:g.89345738C>T		1					ANKRD11_ENST00000378330.2_Silent_p.T2404T	p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	7672	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.7212G>A	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	37		37	40	1	2.060000	-20.000000	1	0.170000	NM_013275			20	20		152	149	0		1	1		0	0	37	0		9.999961e-01	9.365156e-01	0	4	0	34	0	20	152
ANKRD11	29123	broad.mit.edu	37	16	89346638	89346638	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2104	Pro-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.D2104D(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)		CGCGGCTGCCGTCCAGGAAGC	0.726																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D2104D(1)	endometrium(1)	83						c.(6310-6312)gaC>gaT		ankyrin repeat domain 11																																				SO:0001819	synonymous_variant	29123	5	119232	34				g.chr16:89346638G>A	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.6312C>T	chr16.hg19:g.89346638G>A		1					ANKRD11_ENST00000378330.2_Silent_p.D2104D	p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	6772	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.6312C>T	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_013275			59	59		149	146	0		1	1		0	0	21	0		1	9.999743e-01	0	14	0	30	0	59	149
ANKRD11	29123	broad.mit.edu	37	16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2103	Pro-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)				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)		CTGCCGTCCAGGAAGCTATTT	0.716																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998596	0.990000	1.000000																										0				83						c.(6307-6309)Ctg>Atg		ankyrin repeat domain 11							8.0	11.0	10.0					16																	89346643		1962	3938	5900	SO:0001583	missense	29123	0	0					g.chr16:89346643G>T	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.6307C>A	chr16.hg19:g.89346643G>T	ENSP00000301030:p.Leu2103Met	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	6767	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	0	1	hg19	c.6307C>A	CCDS32513.1	1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969239	0.34754	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	5.29	3.06	0.35304	5.29	3.06	0.35304	.	0.510157	0.17790	N	0.161903	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.10989	-1.0606	10	0.33141	T	0.24	.	3.321	0.07050	0.1492:0.0:0.3929:0.4579	.	2103	Q6UB99	ANR11_HUMAN	M	2103	ENSP00000301030:L2103M;ENSP00000367581:L2103M	ENSP00000301030:L2103M	L	-	1	2	2	ANKRD11	87874144	87874144	0.995000	0.38212	1.000000	0.80357	0.343000	0.28985	0.831000	0.27476	2.475000	0.83589	0.450000	0.29827	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_013275			25	24		186	186	0		1	1		0	0	22	0		9.999999e-01	9.768585e-01	0	10	0	38	0	25	186
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-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)				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)		GGCGGCCGTCGCCTGCTGGTC	0.677																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(5755-5757)gCg>gTg		ankyrin repeat domain 11							19.0	24.0	22.0					16																	89347194		2159	4237	6396	SO:0001583	missense	29123	0	0					g.chr16:89347194G>A	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.5756C>T	chr16.hg19:g.89347194G>A	ENSP00000301030:p.Ala1919Val	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	6216	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	1	1	hg19	c.5756C>T	CCDS32513.1	1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	0	ANKRD11	87874695	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_013275			63	62		337	331	0		1	1		0	0	61	0		1	9.999951e-01	0	32	0	65	0	63	337
ANKRD11	29123	broad.mit.edu	37	16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1762					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)				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)		GAGAACCTGTCGAAAAAGGAG	0.637																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(5284-5286)Gac>Aac		ankyrin repeat domain 11							40.0	42.0	42.0					16																	89347666		2198	4299	6497	SO:0001583	missense	29123	0	0					g.chr16:89347666C>T	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.5284G>A	chr16.hg19:g.89347666C>T	ENSP00000301030:p.Asp1762Asn	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	5744	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	1	1	hg19	c.5284G>A	CCDS32513.1	1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299473	0.81136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43294	0.95;0.95	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.226096	0.35436	N	0.003218	T	0.30665	0.0772	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.23574	0.047	T	0.30149	-0.9988	10	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1762	Q6UB99	ANR11_HUMAN	N	1762	ENSP00000301030:D1762N;ENSP00000367581:D1762N	ENSP00000301030:D1762N	D	-	1	0	0	ANKRD11	87875167	87875167	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	4.278000	0.58946	2.266000	0.75297	0.457000	0.33378	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-20.000000	1	0.170000	NM_013275			123	121		361	350	1		1	1		0	0	66	0		1	1	0	27	0	74	0	123	361
ANKRD11	29123	broad.mit.edu	37	16	89348197	89348197	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1585	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)				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)		GACAGCATCCTCTCGAAGCTG	0.597																																						ENST00000301030.4	0.770000	0.330000	6.600000e-01	4.200000e-01	0.530000	0.544497	0.530000	0.510000																										0				83						c.(4753-4755)Agg>Cgg		ankyrin repeat domain 11							76.0	69.0	72.0					16																	89348197		2198	4300	6498	SO:0001819	synonymous_variant	29123	0	0					g.chr16:89348197T>G	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.4753A>C	chr16.hg19:g.89348197T>G		1					ANKRD11_ENST00000378330.2_Silent_p.R1585R	p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	5213	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.4753A>C	CCDS32513.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-19.399710	1	0.170000	NM_013275			20	20		467	459	0		1	1		0	0	66	0		9.999946e-01	9.334664e-01	0	5	0	104	0	20	467
ANKRD11	29123	broad.mit.edu	37	16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1476	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)				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)		CTGTCCCGGTGCctctccttc	0.552																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4426-4428)Cac>Tac		ankyrin repeat domain 11							101.0	60.0	74.0					16																	89348524		2198	4300	6498	SO:0001583	missense	29123	0	0					g.chr16:89348524G>A	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.4426C>T	chr16.hg19:g.89348524G>A	ENSP00000301030:p.His1476Tyr	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	4886	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	1	1	hg19	c.4426C>T	CCDS32513.1	1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397951	0.25205	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.312185	0.31847	N	0.006979	T	0.36690	0.0976	L	0.55103	1.725	0.80722	D	1	P	0.45283	0.855	B	0.37650	0.255	T	0.40251	-0.9573	10	0.62326	D	0.03	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	1476	Q6UB99	ANR11_HUMAN	Y	1476	ENSP00000301030:H1476Y;ENSP00000367581:H1476Y	ENSP00000301030:H1476Y	H	-	1	0	0	ANKRD11	87876025	87876025	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	5.766000	0.68843	2.530000	0.85305	0.563000	0.77884	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_013275			60	60		242	233	1		1	1		0	0	36	0		1	1	0	35	0	114	0	60	242
ANKRD11	29123	broad.mit.edu	37	16	89348801	89348801	+	Silent	SNP	G	G	A	rs146025366	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348801G>A	ENST00000301030.4	-	9	4609	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ANKRD11_ENST00000378330.2_Silent_p.G1383G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1383	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)				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)		TCCTGCTACCGCCCTCCTTGT	0.512													G|||	7	0.00139776	0.0	0.0058	5008	,	,		18635	0.0		0.003	False		,,,				2504	0.0					ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4147-4149)ggC>ggT		ankyrin repeat domain 11		G		0,4396		0,0,2198	120.0	104.0	109.0		4149	-9.0	0.0	16	dbSNP_134	109	31,8569	21.0+/-64.5	0,31,4269	no	coding-synonymous	ANKRD11	NM_013275.4		0,31,6467	AA,AG,GG		0.3605,0.0,0.2385		1383/2664	89348801	31,12965	2198	4300	6498	SO:0001819	synonymous_variant	29123	301	121412	58				g.chr16:89348801G>A	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.4149C>T	chr16.hg19:g.89348801G>A		1					ANKRD11_ENST00000378330.2_Silent_p.G1383G	p.G1383G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	4609	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	0	hg19	c.4149C>T	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-2.757961	1	0.170000	NM_013275			133	128		588	576	1		1	1		0	0	82	0		1	9.999988e-01	0	23	0	62	0	133	588
ANKRD11	29123	broad.mit.edu	37	16	89349137	89349137	+	Silent	SNP	C	C	T	rs368590420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1271	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)				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)		CGGCACTTCTCGAGGACTTCC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19547	0.0		0.001	False		,,,				2504	0.0					ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(3811-3813)tcG>tcA		ankyrin repeat domain 11		C		1,4395	2.1+/-5.4	0,1,2197	63.0	66.0	65.0		3813	-10.6	0.0	16		65	0,8600		0,0,4300	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1271/2664	89349137	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123	2	121412	34				g.chr16:89349137C>T	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.3813G>A	chr16.hg19:g.89349137C>T		1					ANKRD11_ENST00000378330.2_Silent_p.S1271S	p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	4273	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.3813G>A	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-2.887758	1	0.170000	NM_013275			84	83		430	423	1		1	1		0	0	51	0		1	1	0	28	0	123	0	84	430
ANKRD11	29123	broad.mit.edu	37	16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	807	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)				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)		TTCCCTATAAACCTTTTCTTT	0.313																																						ENST00000301030.4	1.000000	0.340000	8.900000e-01	4.900000e-01	0.670000	0.690747	0.670000	1.000000																										0				83						c.(2419-2421)gTt>gGt		ankyrin repeat domain 11							37.0	40.0	39.0					16																	89350530		2198	4300	6498	SO:0001583	missense	29123	0	0					g.chr16:89350530A>C	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.2420T>G	chr16.hg19:g.89350530A>C	ENSP00000301030:p.Val807Gly	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		9	2880	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	1	1	hg19	c.2420T>G	CCDS32513.1	0	.	.	.	.	.	.	.	.	.	.	A	0.971	-0.700084	0.03279	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.66	-0.892	0.10570	5.66	-0.892	0.10570	.	0.755412	0.12064	N	0.502858	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25882	-1.0119	10	0.15952	T	0.53	.	6.1812	0.20472	0.3566:0.366:0.2774:0.0	.	426;807	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	807;807;426	ENSP00000301030:V807G;ENSP00000367581:V807G	ENSP00000301030:V807G	V	-	2	0	0	ANKRD11	87878031	87878031	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	0.721000	0.25911	-0.456000	0.07043	-0.441000	0.05720	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-13.125040	1	0.170000	NM_013275			10	10		185	182	1		1	1		0	0	35	0		9.968712e-01	9.342338e-01	0	13	0	77	0	10	185
ANKRD11	29123	broad.mit.edu	37	16	89357207	89357207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89357207A>G	ENST00000301030.4	-	6	887	c.427T>C	c.(427-429)Tct>Cct	p.S143P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	143					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)				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)		CACACTGTAGACTGGGAGGGG	0.557																																						ENST00000301030.4	0.610000	0.280000	5.200000e-01	3.400000e-01	0.420000	0.439419	0.420000	0.420000																										0				83						c.(427-429)Tct>Cct		ankyrin repeat domain 11							85.0	85.0	85.0					16																	89357207		2198	4300	6498	SO:0001583	missense	29123	0	0					g.chr16:89357207A>G	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.427T>C	chr16.hg19:g.89357207A>G	ENSP00000301030:p.Ser143Pro	1					ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		6	887	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	1	1	hg19	c.427T>C	CCDS32513.1	0	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234037	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.41758	0.99;0.99	5.3	4.18	0.49190	5.3	4.18	0.49190	.	0.061993	0.64402	D	0.000003	T	0.54679	0.1873	L	0.43152	1.355	0.80722	D	1	D;P;D	0.71674	0.998;0.492;0.99	D;B;D	0.77557	0.99;0.287;0.972	T	0.55673	-0.8104	10	0.72032	D	0.01	.	12.1198	0.53885	0.8237:0.1763:0.0:0.0	.	143;157;143	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	P	143;143;157	ENSP00000301030:S143P;ENSP00000367581:S143P	ENSP00000301030:S143P	S	-	1	0	0	ANKRD11	87884708	87884708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.796000	0.62496	0.890000	0.36211	0.459000	0.35465	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.813471	1	0.170000	NM_013275			25	25		725	713	0		1	1		0	0	88	0		9.999998e-01	8.933651e-01	0	6	0	109	0	25	725
CARHSP1	23589	broad.mit.edu	37	16	8953039	8953039	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R|CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	49					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642																																						ENST00000396593.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999777	0.990000	1.000000																										0				3						c.(145-147)agG>agA		calcium regulated heat stable protein 1, 24kDa							27.0	23.0	24.0					16																	8953039		2196	4300	6496	SO:0001819	synonymous_variant	23589	0	0					g.chr16:8953039C>T	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.147G>A	chr16.hg19:g.8953039C>T		0					CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R	p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	1	2	3	2.056757	Q9Y2V2	CHSP1_HUMAN		2	506	-			B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Silent	SNP	ENST00000396593.2	1	0	hg19	c.147G>A	CCDS10537.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	0	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_014316			19	19		99	93	1		1	1		0	0	19	0		9.999914e-01	1	0	167	0	426	0	19	99
ANKRD11	29123	broad.mit.edu	37	16	89371699	89371699	+	Silent	SNP	G	G	A	rs200889723		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000563291.1_Silent_p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	47					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.G47G(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)		CCTCCTTCCCGCCATCGCCAC	0.557																																						ENST00000301030.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G47G(1)	endometrium(1)	83						c.(139-141)ggC>ggT		ankyrin repeat domain 11							67.0	65.0	66.0					16																	89371699		2198	4300	6498	SO:0001819	synonymous_variant	29123	2	121412	35				g.chr16:89371699G>A	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.141C>T	chr16.hg19:g.89371699G>A		1					ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR	p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	1	2	3	2.195832	Q6UB99	ANR11_HUMAN		4	601	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	1	1	hg19	c.141C>T	CCDS32513.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1		20	14	2	1		1	1	60		60	59	1	2.060000	-6.210327	1	0.170000	NM_013275			102	99		277	269	1		1	1		1	0	60	0		1	1	0	82	0	145	0	102	277
SPG7	6687	broad.mit.edu	37	16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_ENST00000341316.2_Missense_Mutation_p.A412V|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	412					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627																																						ENST00000268704.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1234-1236)gCg>gTg		spastic paraplegia 7 (pure and complicated autosomal recessive)							43.0	44.0	44.0					16																	89598955		2198	4300	6498	SO:0001583	missense	6687	1	121402	33				g.chr16:89598955C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1235C>T	chr16.hg19:g.89598955C>T	ENSP00000268704:p.Ala412Val	1					RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	p.A412V	NM_003119.2	NP_003110.1	1	2	3	2.195832	Q9UQ90	SPG7_HUMAN		9	1250	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	1	1	hg19	c.1235C>T	CCDS10977.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747758	0.89663	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94138	-3.36;-3.36	5.45	5.45	0.79879	5.45	5.45	0.79879	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.048162	0.85682	D	0.000000	D	0.96781	0.8949	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97102	0.9798	10	0.87932	D	0	-1.6581	19.3347	0.94312	0.0:1.0:0.0:0.0	.	412;412	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	V	412	ENSP00000268704:A412V;ENSP00000341157:A412V	ENSP00000268704:A412V	A	+	2	0	0	SPG7	88126456	88126456	1.000000	0.71417	0.235000	0.24058	0.352000	0.29268	7.455000	0.80726	2.571000	0.86741	0.456000	0.33151	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	0	0	1		17	7	2	1		1	1	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_003119			74	74		351	340	1		1	1		1	0	83	0		1	9.998442e-01	0	32	0	89	0	74	351
SPG7	6687	broad.mit.edu	37	16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A	rs370852816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	603			A -> T. {ECO:0000269|PubMed:16534102}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602																																						ENST00000268704.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1807-1809)Gcc>Acc		spastic paraplegia 7 (pure and complicated autosomal recessive)		G	THR/ALA	0,4396		0,0,2198	67.0	56.0	60.0		1807	5.8	0.2	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPG7	NM_003119.2	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	603/796	89619414	1,12995	2198	4300	6498	SO:0001583	missense	6687	3	121412	38				g.chr16:89619414G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1807G>A	chr16.hg19:g.89619414G>A	ENSP00000268704:p.Ala603Thr	1						p.A603T	NM_003119.2	NP_003110.1	1	2	3	2.195832	Q9UQ90	SPG7_HUMAN		14	1822	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	1	1	hg19	c.1807G>A	CCDS10977.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360229	0.82353	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.87103	-2.21	5.84	5.84	0.93424	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.86864	2.845	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.94351	0.7579	10	0.87932	D	0	1.556	20.1278	0.97990	0.0:0.0:1.0:0.0	.	603	Q9UQ90	SPG7_HUMAN	T	603;193	ENSP00000268704:A603T	ENSP00000268704:A603T	A	+	1	0	0	SPG7	88146915	88146915	1.000000	0.71417	0.206000	0.23566	0.184000	0.23303	7.745000	0.85046	2.768000	0.95171	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003119			41	40		141	140	1		1	1		0	0	50	0		1	1	0	72	0	111	0	41	141
CPNE7	27132	broad.mit.edu	37	16	89661804	89661804	+	Silent	SNP	C	C	T	rs144641606	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89661804C>T	ENST00000268720.5	+	16	1687	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	CPNE7_ENST00000319518.8_Silent_p.D444D|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	519	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCTGACGGACGGCGTGGTGA	0.632													C|||	23	0.00459265	0.0159	0.0029	5008	,	,		18342	0.0		0.0	False		,,,				2504	0.0					ENST00000268720.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1555-1557)gaC>gaT		copine VII		C	,	54,4340	53.6+/-89.4	0,54,2143	71.0	51.0	58.0		1557,1332	-1.0	1.0	16	dbSNP_134	58	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	CPNE7	NM_014427.4,NM_153636.2	,	0,54,6438	TT,TC,CC		0.0,1.2289,0.4159	,	519/634,444/559	89661804	54,12930	2197	4295	6492	SO:0001819	synonymous_variant	27132	159	121130	52				g.chr16:89661804C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1557C>T	chr16.hg19:g.89661804C>T		1					CPNE7_ENST00000319518.8_Silent_p.D444D|CPNE7_ENST00000566398.1_3'UTR	p.D519D	NM_014427.4	NP_055242.1	1	2	3	2.195832	Q9UBL6	CPNE7_HUMAN		16	1687	+		all_hematologic(23;0.0748)		Silent	SNP	ENST00000268720.5	1	0	hg19	c.1557C>T	CCDS10980.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.754829	1	0.170000				70	69		233	228	1		1	1		0	0	66	0		1	9.604665e-01	0	4	0	16	0	70	233
DPEP1	1800	broad.mit.edu	37	16	89703612	89703612	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	198					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652																																						ENST00000393092.3	0.700000	0.260000	5.800000e-01	3.500000e-01	0.450000	0.470270	0.450000	0.450000																										0				14						c.(592-594)Cgt>Tgt		dipeptidase 1 (renal)	Cilastatin(DB01597)						60.0	64.0	63.0					16																	89703612		2194	4292	6486	SO:0001630	splice_region_variant	1800	4	120962	35				g.chr16:89703612C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.592-1C>T	chr16.hg19:g.89703612C>T		1					DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	p.R198C	NM_004413.3	NP_004404.1	1	2	3	2.195832	P16444	DPEP1_HUMAN		7	883	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	D3DX80|Q96AK2	Splice_Site	SNP	ENST00000393092.3	0	1	hg19	c.592C>T	CCDS10982.1	0	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447057	0.84101	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.14	-4.67	0.03319	5.14	-4.67	0.03319	.	0.985709	0.08297	N	0.967567	T	0.40398	0.1115	M	0.74881	2.28	0.32834	D	0.504453	D	0.89917	1.0	D	0.68039	0.955	T	0.56884	-0.7905	9	.	.	.	-5.7528	4.4237	0.11493	0.3622:0.413:0.1444:0.0804	.	198	P16444	DPEP1_HUMAN	C	198	ENSP00000397313:R198C;ENSP00000376807:R198C;ENSP00000261615:R198C	.	R	+	1	0	0	DPEP1	88231113	88231113	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-1.050000	0.03510	-0.492000	0.06687	0.436000	0.28706	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-14.302690	1	0.170000	NM_001128141	Missense_Mutation		15	15		414	409	0		1	0		0	0	69	0		9.998652e-01	9.917177e-01	0	0	0	219	0	15	414
CDK10	8558	broad.mit.edu	37	16	89758865	89758865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000353379.7	+	6	469	c.426C>T	c.(424-426)tgC>tgT	p.C142C	CDK10_ENST00000331006.8_Silent_p.C95C|CDK10_ENST00000505473.1_Silent_p.C71C	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597																																						ENST00000353379.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(424-426)tgC>tgT		cyclin-dependent kinase 10							84.0	74.0	78.0					16																	89758865		2198	4300	6498	SO:0001819	synonymous_variant	8558	0	0					g.chr16:89758865C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.426C>T	chr16.hg19:g.89758865C>T		1					CDK10_ENST00000505473.1_Silent_p.C71C|CDK10_ENST00000331006.8_Silent_p.C95C	p.C142C	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	1	2	3	2.195832	Q15131	CDK10_HUMAN		6	469	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	1	1	hg19	c.426C>T	CCDS10984.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				93	91		305	302	0		1	1		0	0	65	0		1	9.999999e-01	0	29	0	52	0	93	305
CDK10	8558	broad.mit.edu	37	16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000353379.7	+	8	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CDK10_ENST00000331006.8_Missense_Mutation_p.K151N|CDK10_ENST00000505473.1_Missense_Mutation_p.K127N	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607																																						ENST00000353379.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.K198N(1)	endometrium(1)	1						c.(592-594)aaG>aaT		cyclin-dependent kinase 10							69.0	64.0	65.0					16																	89759861		2198	4300	6498	SO:0001583	missense	8558	0	0					g.chr16:89759861G>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.594G>T	chr16.hg19:g.89759861G>T	ENSP00000338673:p.Lys198Asn	1					CDK10_ENST00000505473.1_Missense_Mutation_p.K127N|CDK10_ENST00000331006.8_Missense_Mutation_p.K151N	p.K198N	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	1	2	3	2.195832	Q15131	CDK10_HUMAN		8	637	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	1	1	hg19	c.594G>T	CCDS10984.2	1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942347	0.18281	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.42900	0.96;0.96;0.96	4.97	2.88	0.33553	4.97	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162260	0.52532	D	0.000066	T	0.18045	0.0433	N	0.05199	-0.095	0.49389	D	0.99978	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.004	T	0.05451	-1.0884	10	0.17832	T	0.49	-38.7351	6.7509	0.23487	0.3406:0.0:0.6594:0.0	.	198;127;127	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	N	151;169;127;198	ENSP00000329957:K151N;ENSP00000424415:K127N;ENSP00000338673:K198N	ENSP00000329957:K151N	K	+	3	2	2	CDK10	88287362	88287362	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.674000	0.46867	1.325000	0.45301	0.655000	0.94253	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-9.260384	1	0.170000				104	104		234	229	1		1	1		0	0	68	0		1	1	0	50	0	65	0	104	234
SPATA2L	124044	broad.mit.edu	37	16	89764195	89764195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697																																						ENST00000289805.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				6						c.(820-822)ggG>ggA		spermatogenesis associated 2-like							11.0	13.0	12.0					16																	89764195		2167	4266	6433	SO:0001819	synonymous_variant	124044	0	0					g.chr16:89764195C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.822G>A	chr16.hg19:g.89764195C>T		1					SPATA2L_ENST00000335360.7_Intron	p.G274G	NM_152339.3	NP_689552.2	1	2	3	2.195832	Q8IUW3	SPA2L_HUMAN		3	890	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	1	1	hg19	c.822G>A	CCDS10985.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_152339			19	19		70	70	1		1	1		0	0	15	0		9.999960e-01	9.999259e-01	0	21	0	44	0	19	70
SPATA2L	124044	broad.mit.edu	37	16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	186										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726																																						ENST00000289805.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999925	0.990000	1.000000																										0				6						c.(556-558)Cgg>Tgg		spermatogenesis associated 2-like							11.0	13.0	13.0					16																	89764461		2168	4251	6419	SO:0001583	missense	124044	2	120094	20				g.chr16:89764461G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.556C>T	chr16.hg19:g.89764461G>A	ENSP00000289805:p.Arg186Trp	1					SPATA2L_ENST00000335360.7_Intron	p.R186W	NM_152339.3	NP_689552.2	1	2	3	2.195832	Q8IUW3	SPA2L_HUMAN		3	624	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	1	1	hg19	c.556C>T	CCDS10985.1	1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259451	0.59321	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	3.72	0.42706	4.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.71082	0.3298	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72802	-0.4183	9	0.87932	D	0	.	11.473	0.50280	0.0:0.0:0.8048:0.1952	.	186	Q8IUW3	SPA2L_HUMAN	W	186	.	ENSP00000289805:R186W	R	-	1	2	2	SPATA2L	88291962	88291962	0.081000	0.21417	0.688000	0.30117	0.605000	0.37080	0.617000	0.24359	0.887000	0.36136	0.462000	0.41574	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_152339			26	26		154	149	1		1	1		0	0	33	0		9.999999e-01	4.965341e-01	0	8	0	3	0	26	154
FANCA	2175	broad.mit.edu	37	16	89807275	89807275	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	1.000000	0.790000	1	9.900000e-01	0.990000	0.985023	0.990000	1.000000			yes	Rec		Fanconi anaemia A	yes	Rec		Fanconi anaemia A	16	16q24.3	16q24.3	2175	D, Mis, N, F, S	"""Fanconi anemia, complementation group A"""				L	L		AML, leukemia			0				47						c.e38-1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							77.0	72.0	74.0					16																	89807275		2198	4300	6498	SO:0001630	splice_region_variant	2175	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr16:89807275C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3766-1G>A	chr16.hg19:g.89807275C>T		1					ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site		NM_000135.2	NP_000126.2	1	2	3	2.195832	O15360	FANCA_HUMAN		38	3796	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	0	1	hg19		CCDS32515.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489304	0.44249	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	5.21	0.72293	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FANCA	88334776	88334776	1.000000	0.71417	0.726000	0.30738	0.508000	0.34012	4.115000	0.57865	2.586000	0.87340	0.561000	0.74099	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.973070	1	0.170000		Intron		14	14		119	118	1		1	0		0	0	20	0		9.997989e-01	2.228441e-01	0	0	0	8	0	14	119
USP7	7874	broad.mit.edu	37	16	8993578	8993578	+	Silent	SNP	G	G	A	rs372148483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000535863.1_Silent_p.T683T|USP7_ENST00000381886.4_Silent_p.T766T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	782	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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						ACTCCTTTGCGGTGGGTAATT	0.428																																						ENST00000344836.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2344-2346)acC>acT		ubiquitin specific peptidase 7 (herpes virus-associated)		G		1,4393	2.1+/-5.4	0,1,2196	151.0	132.0	139.0		2346	-11.4	0.2	16		139	0,8600		0,0,4300	no	coding-synonymous	USP7	NM_003470.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		782/1103	8993578	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	7874	2	121412	35				g.chr16:8993578G>A	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.2346C>T	chr16.hg19:g.8993578G>A		0					USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	p.T782T	NM_003470.2	NP_003461.2	1	2	3	2.056757	Q93009	UBP7_HUMAN		22	2544	-			A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	1	1	hg19	c.2346C>T	CCDS32385.1	1																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.422213	1	0.170000				80	79		282	278	1		1	1		0	0	77	0		1	1	0	63	0	193	0	80	282
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000535863.1_Splice_Site_p.H584Y|USP7_ENST00000381886.4_Splice_Site_p.H667Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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						GGGCACTTACGATCTTTATCA	0.483																																						ENST00000344836.4	1.000000	0.360000	1	4.500000e-01	0.570000	0.631970	0.570000	0.530000																										0				48						c.(2047-2049)Cat>Tat		ubiquitin specific peptidase 7 (herpes virus-associated)							121.0	106.0	111.0					16																	8995939		2197	4300	6497	SO:0001630	splice_region_variant	7874	0	0					g.chr16:8995939G>A	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.2047+1C>T	chr16.hg19:g.8995939G>A		0					USP7_ENST00000381886.4_Splice_Site_p.H667Y|USP7_ENST00000535863.1_Splice_Site_p.H584Y	p.H683Y	NM_003470.2	NP_003461.2	1	2	3	2.056757	Q93009	UBP7_HUMAN		18	2245	-			A6NMY8|B7Z815|H0Y3G8	Splice_Site	SNP	ENST00000344836.4	1	0	hg19	c.2047C>T	CCDS32385.1	0	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001818	0.74932	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.27	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.043956	0.85682	D	0.000000	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	P;P	0.46142	0.873;0.873	B;B	0.19148	0.024;0.024	T	0.50668	-0.8801	9	.	.	.	.	19.2247	0.93814	0.0:0.0:1.0:0.0	.	683;667	Q93009;B7Z815	UBP7_HUMAN;.	Y	683;691;584;584	ENSP00000343535:H683Y;ENSP00000443646:H584Y	.	H	-	1	0	0	USP7	8903440	8903440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.549000	0.85964	0.561000	0.74099	CAT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.882905	1	0.170000		Missense_Mutation		24	24		511	505	0		1	1		0	0	64	0		9.999996e-01	9.948600e-01	0	3	0	174	0	24	511
FANCA	2175	broad.mit.edu	37	16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1097					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Fanconi anaemia A	yes	Rec		Fanconi anaemia A	16	16q24.3	16q24.3	2175	D, Mis, N, F, S	"""Fanconi anemia, complementation group A"""				L	L		AML, leukemia			0				47						c.(3289-3291)gCa>gTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							95.0	66.0	76.0					16																	89815125		2198	4300	6498	SO:0001583	missense	2175	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr16:89815125G>A	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.3290C>T	chr16.hg19:g.89815125G>A	ENSP00000373952:p.Ala1097Val	1					FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	p.A1097V	NM_000135.2	NP_000126.2	1	2	3	2.195832	O15360	FANCA_HUMAN		33	3320	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	1	1	hg19	c.3290C>T	CCDS32515.1	1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976831	0.34848	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84730	-1.89	4.32	-5.26	0.02772	4.32	-5.26	0.02772	.	0.733388	0.12716	N	0.445132	T	0.69441	0.3111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.006;0.006	B;B;B	0.12837	0.008;0.005;0.005	T	0.56050	-0.8043	10	0.51188	T	0.08	0.0037	0.58	0.00710	0.2516:0.1259:0.2383:0.3842	.	74;1097;1097	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	V	1097;74	ENSP00000373952:A1097V	ENSP00000306281:A74V	A	-	2	0	0	FANCA	88342626	88342626	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.040000	0.03546	-0.628000	0.05582	0.462000	0.41574	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				46	46		175	173	1		1	1		0	0	30	0		1	8.717324e-01	0	8	0	8	0	46	175
USP7	7874	broad.mit.edu	37	16	8997161	8997161	+	Silent	SNP	C	C	T	rs146507622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8997161C>T	ENST00000344836.4	-	16	2001	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	USP7_ENST00000535863.1_Silent_p.S502S|USP7_ENST00000381886.4_Silent_p.S585S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	601					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)			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						ACTCAGCAAGCGAGGAGTTCT	0.502																																						ENST00000344836.4	1.000000	0.150000	1	2.300000e-01	0.350000	0.454403	0.350000	0.300000																										0				48						c.(1801-1803)tcG>tcA		ubiquitin specific peptidase 7 (herpes virus-associated)		C		1,4393	2.1+/-5.4	0,1,2196	150.0	119.0	129.0		1803	-8.9	0.3	16	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP7	NM_003470.2		0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154		601/1103	8997161	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	7874	8	121412	39				g.chr16:8997161C>T	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.1803G>A	chr16.hg19:g.8997161C>T		0					USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	p.S601S	NM_003470.2	NP_003461.2	1	2	3	2.056757	Q93009	UBP7_HUMAN		16	2001	-			A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	0	1	hg19	c.1803G>A	CCDS32385.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.997158	1	0.170000				8	8		304	294	0		1	1		0	0	59	0		9.881330e-01	9.879731e-01	0	6	0	295	0	8	304
TCF25	22980	broad.mit.edu	37	16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	TCF25_ENST00000263347.7_Missense_Mutation_p.F273S|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	508					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632																																						ENST00000263346.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				18						c.(1522-1524)tTt>tCt		transcription factor 25 (basic helix-loop-helix)							27.0	28.0	28.0					16																	89971399		2193	4298	6491	SO:0001583	missense	22980	0	0					g.chr16:89971399T>C	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1523T>C	chr16.hg19:g.89971399T>C	ENSP00000263346:p.Phe508Ser	1					RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	p.F508S	NM_014972.2	NP_055787.1	1	2	3	2.195832	Q9BQ70	TCF25_HUMAN		14	1579	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	1	1	hg19	c.1523T>C	CCDS10987.1	1	.	.	.	.	.	.	.	.	.	.	T	7.543	0.661108	0.14645	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	3.4	0.38934	5.7	3.4	0.38934	.	0.299198	0.40554	N	0.001070	T	0.03827	0.0108	N	0.00057	-2.36	0.28664	N	0.905978	B;B	0.18013	0.021;0.025	B;B	0.13407	0.009;0.009	T	0.26677	-1.0096	9	0.17369	T	0.5	.	4.3785	0.11283	0.0:0.3371:0.0:0.6629	.	273;508	Q9H384;Q9BQ70	.;TCF25_HUMAN	S	508;273	.	ENSP00000263346:F508S	F	+	2	0	0	TCF25	88498900	88498900	0.249000	0.23941	1.000000	0.80357	0.774000	0.43823	0.447000	0.21710	1.000000	0.39049	0.482000	0.46254	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	NM_014972			16	16		65	64	1		1	1		0	0	13	0		9.999605e-01	1	0	137	0	236	0	16	65
TCF25	22980	broad.mit.edu	37	16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	TCF25_ENST00000263347.7_Missense_Mutation_p.A451D|MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	647					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667																																						ENST00000263346.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1939-1941)Ctg>Atg		transcription factor 25 (basic helix-loop-helix)							55.0	52.0	53.0					16																	89977554		2195	4297	6492	SO:0001583	missense	22980	0	0					g.chr16:89977554C>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1939C>A	chr16.hg19:g.89977554C>A	ENSP00000263346:p.Leu647Met	1					MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.A451D	p.L647M	NM_014972.2	NP_055787.1	1	2	3	2.195832	Q9BQ70	TCF25_HUMAN		18	1995	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	1	1	hg19	c.1939C>A	CCDS10987.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401336|4.401336	0.83120|0.83120	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263347|ENST00000263346	.|.	.|.	.|.	5.21|5.21	0.701|0.701	0.18104|0.18104	5.21|5.21	0.701|0.701	0.18104|0.18104	.|.	.|0.472377	.|0.22676	.|N	.|0.057014	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.25369|0.25369	N|N	0.988718|0.988718	B|B	0.09022|0.24675	0.002|0.109	B|B	0.10450|0.15484	0.005|0.013	T|T	0.11155|0.11155	-1.0599|-1.0599	8|9	0.87932|0.48119	D|T	0|0.1	.|.	3.7855|3.7855	0.08698|0.08698	0.1298:0.3136:0.4523:0.1044|0.1298:0.3136:0.4523:0.1044	.|.	451|647	Q9H384|Q9BQ70	.|TCF25_HUMAN	D|M	451|647	.|.	ENSP00000263347:A451D|ENSP00000263346:L647M	A|L	+|+	2|1	0|2	0|2	TCF25|TCF25	88505055|88505055	88505055|88505055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.958000|2.958000	0.49145|0.49145	0.184000|0.184000	0.20083|0.20083	0.561000|0.561000	0.74099|0.74099	GCT|CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_014972			131	128		286	281	1		1	1		0	0	63	0		1	1	0	117	0	245	0	131	286
TCF25	22980	broad.mit.edu	37	16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	TCF25_ENST00000263347.7_Missense_Mutation_p.P462L|MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	658					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647																																						ENST00000263346.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1972-1974)Ctc>Ttc		transcription factor 25 (basic helix-loop-helix)							57.0	54.0	55.0					16																	89977587		2194	4297	6491	SO:0001583	missense	22980	0	0					g.chr16:89977587C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1972C>T	chr16.hg19:g.89977587C>T	ENSP00000263346:p.Leu658Phe	1					MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.P462L	p.L658F	NM_014972.2	NP_055787.1	1	2	3	2.195832	Q9BQ70	TCF25_HUMAN		18	2028	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	1	1	hg19	c.1972C>T	CCDS10987.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472323|3.472323	0.63737|0.63737	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	4.12|4.12	0.48240|0.48240	5.21|5.21	4.12|4.12	0.48240|0.48240	.|.	0.117444|.	0.64402|.	N|.	0.000008|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.01188|0.01188	-0.97|-0.97	0.32697|0.32697	N|N	0.513374|0.513374	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.08513|0.08513	-1.0718|-1.0718	9|8	0.02654|0.87932	T|D	1|0	.|.	7.251|7.251	0.26150|0.26150	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	658|462	Q9BQ70|Q9H384	TCF25_HUMAN|.	F|L	658|462	.|.	ENSP00000263346:L658F|ENSP00000263347:P462L	L|P	+|+	1|2	0|0	0|0	TCF25|TCF25	88505088|88505088	88505088|88505088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.827000|4.827000	0.62723|0.62723	0.843000|0.843000	0.35070|0.35070	0.561000|0.561000	0.74099|0.74099	CTC|CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-3.221911	1	0.170000	NM_014972			68	68		439	427	1		1	1		0	0	77	0		1	1	0	82	0	301	0	68	439
TUBB3	10381	broad.mit.edu	37	16	89999002	89999002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000315491.7	+	2	204	c.81G>A	c.(79-81)gaG>gaA	p.E27E	TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000556922.1_Silent_p.E374E|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000553967.1_Silent_p.E27E	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	27					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TCAGTGATGAGCATGGCATCG	0.607																																						ENST00000315491.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(79-81)gaG>gaA		tubulin, beta 3 class III	Ixabepilone(DB04845)						88.0	70.0	76.0					16																	89999002		2198	4299	6497	SO:0001819	synonymous_variant	10381	0	0					g.chr16:89999002G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.81G>A	chr16.hg19:g.89999002G>A		1					TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000556922.1_Silent_p.E374E|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554444.1_5'UTR	p.E27E	NM_006086.3	NP_006077.2	1	2	3	2.195832	Q13509	TBB3_HUMAN		2	204	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	1	1	hg19	c.81G>A	CCDS10988.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_006086			68	68		247	246	0		1	1		0	0	62	0		1	1	0	63	0	76	0	68	247
TUBB3	10381	broad.mit.edu	37	16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000315491.7	+	4	874	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	251					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CGCTGACCTGCGCAAGCTGGC	0.687																																						ENST00000315491.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(751-753)Cgc>Tgc		tubulin, beta 3 class III	Ixabepilone(DB04845)						44.0	42.0	43.0					16																	90001610		2198	4300	6498	SO:0001583	missense	10381	0	0					g.chr16:90001610C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.751C>T	chr16.hg19:g.90001610C>T	ENSP00000320295:p.Arg251Cys	1					TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C	p.R251C	NM_006086.3	NP_006077.2	1	2	3	2.195832	Q13509	TBB3_HUMAN		4	874	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	1	1	hg19	c.751C>T	CCDS10988.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84873	-1.91;-1.91;-1.0;-1.91;-1.91	4.67	4.67	0.58626	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000019	D	0.93926	0.8056	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	251;251	Q13509;B2RBD5	TBB3_HUMAN;.	C	598;251;179;179;179;251	ENSP00000451560:R598C;ENSP00000302777:R179C;ENSP00000450538:R179C;ENSP00000451617:R179C;ENSP00000320295:R251C	.	R	+	1	0	0	RP11-566K11.2;TUBB3	88529111	88529111	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.385000	0.44371	2.316000	0.78162	0.407000	0.27541	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_006086			122	120		348	344	1		1	1		0	0	74	0		1	1	0	75	0	80	0	122	348
DEF8	54849	broad.mit.edu	37	16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000268676.7	+	7	789	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000563594.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000563848.1_3'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	234					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582																																						ENST00000268676.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(700-702)Tgt>Cgt		differentially expressed in FDCP 8 homolog (mouse)							154.0	134.0	141.0					16																	90027341		2198	4300	6498	SO:0001583	missense	54849	0	0					g.chr16:90027341T>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.700T>C	chr16.hg19:g.90027341T>C	ENSP00000268676:p.Cys234Arg	1					DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563594.1_Missense_Mutation_p.C173R|DEF8_ENST00000563848.1_3'UTR	p.C234R	NM_207514.2	NP_997397.1	1	2	3	2.195832	Q6ZN54	DEFI8_HUMAN		7	789	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	1	1	hg19	c.700T>C	CCDS10989.1	1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470659	0.43942	.	.	ENSG00000140995	ENST00000268676	D	0.99876	-7.41	3.82	3.82	0.43975	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.138480	0.51477	D	0.000081	D	0.99876	0.9941	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.96365	0.9269	10	0.87932	D	0	-25.1315	12.6876	0.56956	0.0:0.0:0.0:1.0	.	173;163;234	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	R	234	ENSP00000268676:C234R	ENSP00000268676:C234R	C	+	1	0	0	DEF8	88554842	88554842	1.000000	0.71417	0.789000	0.31954	0.172000	0.22775	7.164000	0.77533	1.721000	0.51461	0.379000	0.24179	TGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	0	0	1		19	4	2	1		1	1	153		153	152	1	2.060000	-20.000000	1	0.170000	NM_207514			208	207		616	608	1		1	1		1	0	153	0		1	9.999967e-01	0	24	0	48	0	208	616
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		GGGACAAGATCCACACCTTCT	0.622																																						ENST00000268699.4	1.000000	0.440000	1	5.900000e-01	0.770000	0.781071	0.770000	1.000000																										0				14						c.(175-177)atC>atA		growth arrest-specific 8							106.0	101.0	103.0					16																	90097793		2198	4300	6498	SO:0001819	synonymous_variant	2622	0	0					g.chr16:90097793C>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.177C>A	chr16.hg19:g.90097793C>A		1					GAS8_ENST00000536122.1_Silent_p.I34I|GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank	p.I59I	NM_001481.2	NP_001472.1	1	2	3	2.195832	O95995	GAS8_HUMAN		3	299	+		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)	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	1	1	hg19	c.177C>A	CCDS10992.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-16.357800	1	0.170000				13	13		204	201	0		1	1		0	0	33	0		9.995419e-01	7.530626e-01	0	7	0	37	0	13	204
GAS8	2622	broad.mit.edu	37	16	90102049	90102049	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	168	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		AGAAACACACCGAGGAGATCA	0.562																																						ENST00000268699.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(502-504)acC>acT		growth arrest-specific 8							191.0	152.0	165.0					16																	90102049		2198	4300	6498	SO:0001819	synonymous_variant	2622	4	121412	39				g.chr16:90102049C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.504C>T	chr16.hg19:g.90102049C>T		1					GAS8_ENST00000536122.1_Silent_p.T143T|GAS8_ENST00000540721.1_3'UTR	p.T168T	NM_001481.2	NP_001472.1	1	2	3	2.195832	O95995	GAS8_HUMAN		5	626	+		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)	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	1	1	hg19	c.504C>T	CCDS10992.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	1		2	2	2	0		0	0	111		111	108	1	2.060000	-2.721722	1	0.170000				98	97		463	456	1		1	1		0	0	111	0		1	9.939076e-01	0	5	0	34	0	98	463
GAS8	2622	broad.mit.edu	37	16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Missense_Mutation_p.A446T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	471					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637																																						ENST00000268699.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1411-1413)Gcg>Acg		growth arrest-specific 8							42.0	43.0	43.0					16																	90109727		2198	4300	6498	SO:0001583	missense	2622	1	121360	22				g.chr16:90109727G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1411G>A	chr16.hg19:g.90109727G>A	ENSP00000268699:p.Ala471Thr	1					GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_RNA	p.A471T	NM_001481.2	NP_001472.1	1	2	3	2.195832	O95995	GAS8_HUMAN		11	1533	+		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)	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	1	1	hg19	c.1411G>A	CCDS10992.1	1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169634	0.57584	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.51071	0.83;0.72	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	P	0.45377	0.478	T	0.57923	-0.7727	9	.	.	.	-31.3668	18.2512	0.90004	0.0:0.0:1.0:0.0	.	471	O95995	GAS8_HUMAN	T	446;471	ENSP00000440977:A446T;ENSP00000268699:A471T	.	A	+	1	0	0	GAS8	88637228	88637228	1.000000	0.71417	0.815000	0.32552	0.046000	0.14306	8.551000	0.90678	2.688000	0.91661	0.557000	0.71058	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				102	100		273	269	1		1	1		0	0	61	0		1	9.998164e-01	0	18	0	19	0	102	273
LMF1	64788	broad.mit.edu	37	16	921238	921238	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	334					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCTGGCCCAGAGGGGAACAA	0.642																																						ENST00000262301.11	1.000000	0.410000	1	6.100000e-01	0.890000	0.834153	0.890000	1.000000																										0				18						c.(1000-1002)tCt>tAt		lipase maturation factor 1							28.0	34.0	32.0					16																	921238		2027	4161	6188	SO:0001583	missense	64788	0	0					g.chr16:921238G>T	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1001C>A	chr16.hg19:g.921238G>T	ENSP00000262301:p.Ser334Tyr	0					LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y	p.S334Y	NM_022773.2	NP_073610.2	1	2	3	2.056757	Q96S06	LMF1_HUMAN		7	1019	-		Hepatocellular(780;0.00308)	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	0	1	hg19	c.1001C>A	CCDS45373.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504376	0.44558	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25414	1.8;1.8;1.8	5.48	4.51	0.55191	5.48	4.51	0.55191	.	0.262403	0.38605	N	0.001621	T	0.30355	0.0762	M	0.80616	2.505	0.80722	D	1	P	0.38223	0.623	B	0.30251	0.113	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.2062	14.3017	0.66357	0.0:0.0:0.8501:0.1499	.	334	Q96S06	LMF1_HUMAN	Y	334;334;117;88;97	ENSP00000262301:S334Y;ENSP00000382737:S334Y;ENSP00000437418:S97Y	ENSP00000262301:S334Y	S	-	2	0	0	LMF1	861239	861239	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	4.439000	0.59968	1.298000	0.44778	0.561000	0.74099	TCT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-12.426050	1	0.170000	NM_022773			8	8		112	105	0		1	1		0	0	25	0		9.874294e-01	8.593727e-01	0	2	0	50	0	8	112
C16orf72	29035	broad.mit.edu	37	16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000327827.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(415-417)cGt>cAt		chromosome 16 open reading frame 72		G	HIS/ARG	9,4385	15.5+/-35.6	0,9,2188	100.0	92.0	95.0		416	5.8	1.0	16	dbSNP_134	95	0,8600		0,0,4300	yes	missense	C16orf72	NM_014117.2	29	0,9,6488	AA,AG,GG		0.0,0.2048,0.0693	probably-damaging	139/276	9196949	9,12985	2197	4300	6497	SO:0001583	missense	29035	2	121412	43				g.chr16:9196949G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.416G>A	chr16.hg19:g.9196949G>A	ENSP00000331720:p.Arg139His	0					RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	p.R139H	NM_014117.2	NP_054836.2	1	2	3	2.056757	Q14CZ0	CP072_HUMAN		3	813	+				Missense_Mutation	SNP	ENST00000327827.7	1	1	hg19	c.416G>A	CCDS10538.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.379836	0.95945	0.002048	0.0	ENSG00000182831	ENST00000327827	T	0.54479	0.57	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.052554	0.85682	D	0.000000	T	0.74711	0.3752	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75479	-0.3303	10	0.66056	D	0.02	-4.3905	20.1294	0.97995	0.0:0.0:1.0:0.0	.	139	Q14CZ0	CP072_HUMAN	H	139	ENSP00000331720:R139H	ENSP00000331720:R139H	R	+	2	0	0	C16orf72	9104450	9104450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.758000	0.94735	0.591000	0.81541	CGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.334625	1	0.170000	NM_014117			81	80		258	255	1		1	1		0	0	64	0		1	1	0	53	0	183	0	81	258
GRIN2A	2903	broad.mit.edu	37	16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1330					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)			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)	TGAGGGGACACTAAACAGGCT	0.547																																						ENST00000396573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				198						c.(3988-3990)aGt>aAt		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	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)						79.0	84.0	82.0					16																	9857412		2197	4300	6497	SO:0001583	missense	2903	0	0					g.chr16:9857412C>T		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.3989G>A	chr16.hg19:g.9857412C>T	ENSP00000379818:p.Ser1330Asn	0					GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	p.S1330N	NM_000833.3	NP_000824.1	1	2	3	2.056757	Q12879	NMDE1_HUMAN		14	4298	-			O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	1	1	hg19	c.3989G>A	CCDS10539.1	1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323454	0.10900	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10763	2.84;2.84;2.84	5.47	5.47	0.80525	5.47	5.47	0.80525	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.264128	0.48767	D	0.000168	T	0.07098	0.0180	N	0.13043	0.29	0.51233	D	0.999914	B	0.02656	0.0	B	0.10450	0.005	T	0.38650	-0.9651	9	.	.	.	.	13.692	0.62550	0.1541:0.8459:0.0:0.0	.	1330	Q12879	NMDE1_HUMAN	N	1330	ENSP00000379818:S1330N;ENSP00000332549:S1330N;ENSP00000379820:S1330N	.	S	-	2	0	0	GRIN2A	9764913	9764913	0.865000	0.29922	0.070000	0.20053	0.918000	0.54935	1.631000	0.37092	2.741000	0.93983	0.650000	0.86243	AGT	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000				116	115		448	442	1		1	0		0	0	90	0		1	4.301980e-02	0	0	0	2	0	116	448
GRIN2A	2903	broad.mit.edu	37	16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1251			D -> N (in FESD). {ECO:0000269|PubMed:23933820}.		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)			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)	AGCATCTGGTCTTCATCGATG	0.542																																						ENST00000396573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				198						c.(3751-3753)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	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)						119.0	110.0	113.0					16																	9857650		2197	4300	6497	SO:0001583	missense	2903	0	0					g.chr16:9857650C>T		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.3751G>A	chr16.hg19:g.9857650C>T	ENSP00000379818:p.Asp1251Asn	0					GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N	p.D1251N	NM_000833.3	NP_000824.1	1	2	3	2.056757	Q12879	NMDE1_HUMAN		14	4060	-			O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	1	1	hg19	c.3751G>A	CCDS10539.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302940	0.81136	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50813	0.73;1.76;1.83;0.73;0.73	5.11	5.11	0.69529	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.995	T	0.75102	-0.3436	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1094;1251;1251	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1251;1251;1094;1251;1251	ENSP00000379818:D1251N;ENSP00000385872:D1251N;ENSP00000441572:D1094N;ENSP00000332549:D1251N;ENSP00000379820:D1251N	.	D	-	1	0	0	GRIN2A	9765151	9765151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.365000	0.80145	0.655000	0.94253	GAC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				100	99		400	392	1		1	1		0	0	75	0		1	4.260061e-01	0	4	0	3	0	100	400
GRIN2A	2903	broad.mit.edu	37	16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1005					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)			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)	TAGAGTTCGCTTTGGATTCTG	0.507																																						ENST00000396573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				198						c.(3013-3015)aaA>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	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)						95.0	93.0	94.0					16																	9858386		2197	4300	6497	SO:0001583	missense	2903	0	0					g.chr16:9858386T>G		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.3015A>C	chr16.hg19:g.9858386T>G	ENSP00000379818:p.Lys1005Asn	0					GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N	p.K1005N	NM_000833.3	NP_000824.1	1	2	3	2.056757	Q12879	NMDE1_HUMAN		14	3324	-			O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	1	1	hg19	c.3015A>C	CCDS10539.1	1	.	.	.	.	.	.	.	.	.	.	T	6.706	0.498927	0.12762	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.69;2.68;2.68;2.69;2.69	5.33	-2.16	0.07080	5.33	-2.16	0.07080	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.138656	0.64402	D	0.000005	T	0.13841	0.0335	L	0.51422	1.61	0.29012	N	0.886792	B;P;P	0.39576	0.358;0.679;0.611	B;B;B	0.43413	0.106;0.248;0.419	T	0.11494	-1.0585	9	.	.	.	.	10.8181	0.46589	0.0:0.4309:0.0:0.569	.	848;1005;1005	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1005;1005;848;1005;1005	ENSP00000379818:K1005N;ENSP00000385872:K1005N;ENSP00000441572:K848N;ENSP00000332549:K1005N;ENSP00000379820:K1005N	.	K	-	3	2	2	GRIN2A	9765887	9765887	0.876000	0.30132	0.497000	0.27552	0.541000	0.35023	0.365000	0.20348	-0.475000	0.06852	0.533000	0.62120	AAA	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				112	112		399	396	1		1	1		0	0	69	0		1	4.774343e-01	0	3	0	4	0	112	399
GRIN2A	2903	broad.mit.edu	37	16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	794					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)			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)	GTGAGCCACAGGGTCTCCAGC	0.557																																						ENST00000396573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				198						c.(2380-2382)Ctg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	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)						108.0	90.0	96.0					16																	9862923		2197	4300	6497	SO:0001583	missense	2903	0	0					g.chr16:9862923G>T		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.2380C>A	chr16.hg19:g.9862923G>T	ENSP00000379818:p.Leu794Met	0					GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M	p.L794M	NM_000833.3	NP_000824.1	1	2	3	2.056757	Q12879	NMDE1_HUMAN		13	2689	-			O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	1	1	hg19	c.2380C>A	CCDS10539.1	1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544199	0.65198	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.45	4.45	0.53987	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.068047	0.64402	D	0.000012	T	0.30039	0.0752	N	0.25647	0.755	0.37532	D	0.917965	P;P;P	0.51653	0.835;0.947;0.776	P;P;P	0.59825	0.676;0.864;0.567	T	0.08848	-1.0702	9	.	.	.	.	10.1679	0.42890	0.0923:0.0:0.9077:0.0	.	637;794;794	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	794;794;637;794;794	ENSP00000379818:L794M;ENSP00000385872:L794M;ENSP00000441572:L637M;ENSP00000332549:L794M;ENSP00000379820:L794M	.	L	-	1	2	2	GRIN2A	9770424	9770424	1.000000	0.71417	0.920000	0.36463	0.966000	0.64601	5.549000	0.67261	2.163000	0.67991	0.563000	0.77884	CTG	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-2.638682	1	0.170000				59	58		302	301	1		1	0		0	0	87	0		1	2.754779e-02	0	0	0	2	0	59	302
PRDM7	11105	broad.mit.edu	37	16	90128425	90128425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90128425G>A	ENST00000449207.2	-	7	805	c.786C>T	c.(784-786)aaC>aaT	p.N262N	PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000407825.1_Silent_p.N56N	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	262	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			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)		CAGATGCCTCGTTCCATACTC	0.577																																						ENST00000449207.2	0.660000	0.260000	5.500000e-01	3.400000e-01	0.430000	0.449387	0.430000	0.420000																										0				5						c.(784-786)aaC>aaT		PR domain containing 7							91.0	84.0	86.0					16																	90128425		2198	4300	6498	SO:0001819	synonymous_variant	11105	0	0					g.chr16:90128425G>A	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.786C>T	chr16.hg19:g.90128425G>A		1					PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000407825.1_Silent_p.N56N	p.N262N	NM_001098173.1	NP_001091643.1	1	2	3	2.195832	Q9NQW5	PRDM7_HUMAN		7	805	-		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)	A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	0	1	hg19	c.786C>T	CCDS45557.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1	0	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-3.716544	1	0.170000				17	16		489	485	0		1	0		0	0	84	0		9.999632e-01	0	0	0	0	1	0	17	489
MYH13	8735	broad.mit.edu	37	17	10212991	10212991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	MYH13_ENST00000252172.4_Silent_p.L1605L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1605					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)			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						TCAGCATCCAGCACGCTCTGC	0.547																																						ENST00000418404.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				108						c.(4813-4815)Ctg>Ttg		myosin, heavy chain 13, skeletal muscle							52.0	54.0	53.0					17																	10212991		2167	4282	6449	SO:0001819	synonymous_variant	8735	0	0					g.chr17:10212991G>A	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.4813C>T	chr17.hg19:g.10212991G>A		0					RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1605L	p.L1605L			1	2	3	2.017774	Q9UKX3	MYH13_HUMAN		33	4976	-			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	1	1	hg19	c.4813C>T	CCDS45613.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-12.479420	1	0.170000	NM_003802			15	15		58	58	1		1	0		0	0	17	0		9.999316e-01	0	0	0	0	1	0	15	58
MYH13	8735	broad.mit.edu	37	17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	MYH13_ENST00000252172.4_Missense_Mutation_p.E932D|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	932					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)			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						TCTCCTCTTCCTCTTCCAATC	0.458																																						ENST00000418404.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(2794-2796)gaG>gaT		myosin, heavy chain 13, skeletal muscle							141.0	143.0	142.0					17																	10227477		2102	4237	6339	SO:0001583	missense	8735	0	0					g.chr17:10227477C>A	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.2796G>T	chr17.hg19:g.10227477C>A	ENSP00000404570:p.Glu932Asp	0					RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D	p.E932D			1	2	3	2.017774	Q9UKX3	MYH13_HUMAN		22	2959	-			O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	1	1	hg19	c.2796G>T	CCDS45613.1	1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.708326	0.00712	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93659	-3.26	4.37	0.881	0.19166	4.37	0.881	0.19166	.	.	.	.	.	T	0.74959	0.3785	N	0.02181	-0.65	0.31291	N	0.689455	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.68217	-0.5467	9	0.02654	T	1	.	3.4732	0.07575	0.2993:0.305:0.0:0.3957	.	558;932	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	932;558	ENSP00000252172:E932D	ENSP00000252172:E932D	E	-	3	2	2	MYH13	10168202	10168202	0.999000	0.42202	0.992000	0.48379	0.162000	0.22319	0.779000	0.26746	0.107000	0.17824	-0.302000	0.09304	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	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	1	0	1		2	2	2	0		0	0	68		68	69	1	2.060000	-3.087995	1	0.170000	NM_003802			64	64		297	293	1		1			0	0	68	0		1	0	0	0	0	0	0	64	297
MYH13	8735	broad.mit.edu	37	17	10265484	10265484	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	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)			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						AGATGTGGGGCGGGGCCTCCT	0.502																																						ENST00000418404.3	1.000000	0.600000	9.400000e-01	6.800000e-01	0.790000	0.806930	0.790000	0.780000																										0				108						c.(454-456)ccG>ccA		myosin, heavy chain 13, skeletal muscle							99.0	110.0	106.0					17																	10265484		2203	4297	6500	SO:0001819	synonymous_variant	8735	1	121412	32				g.chr17:10265484C>T	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.456G>A	chr17.hg19:g.10265484C>T		0					MYH13_ENST00000252172.4_Silent_p.P152P	p.P152P			1	2	3	2.017774	Q9UKX3	MYH13_HUMAN		4	619	-			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	1	1	hg19	c.456G>A	CCDS45613.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1		2	2	2	0		0	0	202		202	244	1	2.060000	-10.021770	1	0.170000	NM_003802			58	55		829	745	0		1	0		0	0	202	0		1	0	0	0	0	1	0	58	829
MYH8	4626	broad.mit.edu	37	17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1890					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)			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						CATTGGATTGTTCCTCCTAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(5668-5670)gaA>gaT		myosin, heavy chain 8, skeletal muscle, perinatal							81.0	85.0	84.0					17																	10293915		2203	4300	6503	SO:0001583	missense	4626	0	0		Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	g.chr17:10293915T>A		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.5670A>T	chr17.hg19:g.10293915T>A	ENSP00000384330:p.Glu1890Asp	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.E1890D	NM_002472.2	NP_002463.2	1	2	3	2.017774	P13535	MYH8_HUMAN		40	5764	-			Q14910	Missense_Mutation	SNP	ENST00000403437.2	1	1	hg19	c.5670A>T	CCDS11153.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108485	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81996	-1.56	5.15	0.555	0.17247	5.15	0.555	0.17247	Myosin tail (1);	0.000000	0.42172	U	0.000741	D	0.90930	0.7149	M	0.92833	3.35	0.40283	D	0.978417	D	0.54207	0.965	D	0.65573	0.936	D	0.89785	0.3964	10	0.72032	D	0.01	.	9.6578	0.39936	0.0:0.4681:0.0:0.5319	.	1890	P13535	MYH8_HUMAN	D	1890	ENSP00000384330:E1890D	ENSP00000252173:E1890D	E	-	3	2	2	MYH8	10234640	10234640	0.026000	0.19158	0.998000	0.56505	0.921000	0.55340	-0.867000	0.04241	-0.094000	0.12374	0.528000	0.53228	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_002472			84	84		436	429	1		1			0	0	78	0		1	0	0	0	0	0	0	84	436
MYH8	4626	broad.mit.edu	37	17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T	rs199592324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1472					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)			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						TTCTGGGAGGCCTCAAGTTCA	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					ENST00000403437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(4414-4416)Gcc>Acc		myosin, heavy chain 8, skeletal muscle, perinatal		C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	103.0	105.0	105.0		4414	0.8	1.0	17		105	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1472/1938	10299984	5,13001	2203	4300	6503	SO:0001583	missense	4626	9	121412	42	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	g.chr17:10299984C>T		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.4414G>A	chr17.hg19:g.10299984C>T	ENSP00000384330:p.Ala1472Thr	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A1472T	NM_002472.2	NP_002463.2	1	2	3	2.017774	P13535	MYH8_HUMAN		32	4508	-			Q14910	Missense_Mutation	SNP	ENST00000403437.2	1	1	hg19	c.4414G>A	CCDS11153.1	1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998557	0.54147	0.001135	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.26	0.808	0.18719	5.26	0.808	0.18719	Myosin tail (1);	0.362158	0.19522	N	0.112257	T	0.72630	0.3484	L	0.36672	1.1	0.32477	N	0.541975	B	0.22003	0.063	B	0.24848	0.056	T	0.69764	-0.5057	10	0.59425	D	0.04	.	7.0599	0.25119	0.2492:0.6169:0.0:0.134	.	1472	P13535	MYH8_HUMAN	T	1472	ENSP00000384330:A1472T	ENSP00000252173:A1472T	A	-	1	0	0	MYH8	10240709	10240709	0.231000	0.23751	0.997000	0.53966	0.552000	0.35366	0.814000	0.27239	0.324000	0.23333	-0.133000	0.14855	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_002472			53	52		288	287	1		1			0	0	73	0		1	0	0	0	0	0	0	53	288
MYH8	4626	broad.mit.edu	37	17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1109					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)			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						TTTGATCTTCTTCTGTAGTTG	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2	1.000000	0.410000	1	5.600000e-01	0.750000	0.760972	0.750000	1.000000																										0				134						c.(3325-3327)aAg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal							65.0	62.0	63.0					17																	10304205		2203	4300	6503	SO:0001583	missense	4626	0	0		Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	g.chr17:10304205T>A		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.3326A>T	chr17.hg19:g.10304205T>A	ENSP00000384330:p.Lys1109Met	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.K1109M	NM_002472.2	NP_002463.2	1	2	3	2.017774	P13535	MYH8_HUMAN		26	3420	-			Q14910	Missense_Mutation	SNP	ENST00000403437.2	1	1	hg19	c.3326A>T	CCDS11153.1	0	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631872	0.67015	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.38	5.38	0.77491	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.92593	0.7647	H	0.95712	3.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	D	0.94676	0.7861	10	0.87932	D	0	.	15.5555	0.76189	0.0:0.0:0.0:1.0	.	1109	P13535	MYH8_HUMAN	M	1109	ENSP00000384330:K1109M	ENSP00000252173:K1109M	K	-	2	0	0	MYH8	10244930	10244930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.255000	0.74692	0.533000	0.62120	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-5.403379	1	0.170000	NM_002472			13	13		204	200	0		1			0	0	44	0		9.995275e-01	0	0	0	0	0	0	13	204
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	185	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			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						CAGTCTTTCCGGCACCAGATT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(553-555)gcC>gcT		myosin, heavy chain 8, skeletal muscle, perinatal							118.0	111.0	114.0					17																	10318882		2203	4300	6503	SO:0001819	synonymous_variant	4626	1	121412	29	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	g.chr17:10318882G>A		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.555C>T	chr17.hg19:g.10318882G>A		0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A185A	NM_002472.2	NP_002463.2	1	2	3	2.017774	P13535	MYH8_HUMAN		7	649	-			Q14910	Silent	SNP	ENST00000403437.2	1	1	hg19	c.555C>T	CCDS11153.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1		2	2	2	0		0	0	100		100	96	1	2.060000	-3.122827	1	0.170000	NM_002472			97	95		381	378	1		1			0	0	100	0		1	0	0	0	0	0	0	97	381
MYH8	4626	broad.mit.edu	37	17	10323446	10323446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	33					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)			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						TAGCATCAAACGGCTTGTTTT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(97-99)ccG>ccA		myosin, heavy chain 8, skeletal muscle, perinatal							229.0	218.0	222.0					17																	10323446		2203	4300	6503	SO:0001819	synonymous_variant	4626	2	121412	35	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	g.chr17:10323446C>T		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.99G>A	chr17.hg19:g.10323446C>T		0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.P33P	NM_002472.2	NP_002463.2	1	2	3	2.017774	P13535	MYH8_HUMAN		3	193	-			Q14910	Silent	SNP	ENST00000403437.2	1	1	hg19	c.99G>A	CCDS11153.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1		2	2	2	0		0	0	217		217	216	1	2.060000	-20.000000	1	0.170000	NM_002472			188	182		713	702	1		1			0	0	217	0		1	0	0	0	0	0	0	188	713
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					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)			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						CCTTGGCCTCCTCCAGCTCGT	0.468																																						ENST00000255381.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				149						c.(5722-5724)gaG>gaT		myosin, heavy chain 4, skeletal muscle							129.0	118.0	122.0					17																	10346788		2203	4300	6503	SO:0001583	missense	4622	0	0					g.chr17:10346788C>A		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.5724G>T	chr17.hg19:g.10346788C>A	ENSP00000255381:p.Glu1908Asp	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.E1908D	NM_017533.2	NP_060003.2	1	2	3	2.017774	Q9Y623	MYH4_HUMAN		40	5834	-				Missense_Mutation	SNP	ENST00000255381.2	1	1	hg19	c.5724G>T	CCDS11154.1	1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035179	0.07543	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.19	1.03	0.20045	5.19	1.03	0.20045	Myosin tail (1);	0.000000	0.37577	U	0.002023	T	0.74943	0.3783	L	0.43646	1.37	0.38826	D	0.955749	B	0.24317	0.101	B	0.34385	0.181	T	0.62267	-0.6890	10	0.15499	T	0.54	.	8.9865	0.35997	0.0:0.5736:0.0:0.4264	.	1908	Q9Y623	MYH4_HUMAN	D	1908	ENSP00000255381:E1908D	ENSP00000255381:E1908D	E	-	3	2	2	MYH4	10287513	10287513	0.136000	0.22515	1.000000	0.80357	0.750000	0.42670	-0.450000	0.06803	0.447000	0.26695	0.655000	0.94253	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-3.077930	1	0.170000	NM_017533			114	111		514	509	1		1			0	0	111	0		1	0	0	0	0	0	0	114	514
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512																																						ENST00000255381.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996163	0.990000	1.000000																										2	Substitution - Missense(2)	p.A1781T(2)	large_intestine(1)|endometrium(1)	149						c.(5341-5343)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							128.0	126.0	126.0					17																	10348418		2203	4298	6501	SO:0001583	missense	4622	3	121410	38				g.chr17:10348418C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5341G>A	chr17.hg19:g.10348418C>T	ENSP00000255381:p.Ala1781Thr	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A1781T	NM_017533.2	NP_060003.2	1	2	3	2.017774	Q9Y623	MYH4_HUMAN		37	5451	-				Missense_Mutation	SNP	ENST00000255381.2	1	1	hg19	c.5341G>A	CCDS11154.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	0	MYH4	10289143	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-19.999830	1	0.170000	NM_017533			88	87		823	798	1		1			0	0	161	0		1	0	0	0	0	0	0	88	823
MYH4	4622	broad.mit.edu	37	17	10360803	10360803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			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						TTCTGGTACAGCCCCACCACA	0.512																																						ENST00000255381.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				149						c.(1831-1833)Ctg>Ttg		myosin, heavy chain 4, skeletal muscle							86.0	84.0	85.0					17																	10360803		2203	4300	6503	SO:0001819	synonymous_variant	4622	0	0					g.chr17:10360803G>A		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.1831C>T	chr17.hg19:g.10360803G>A		0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.L611L	NM_017533.2	NP_060003.2	1	2	3	2.017774	Q9Y623	MYH4_HUMAN		16	1941	-				Silent	SNP	ENST00000255381.2	1	1	hg19	c.1831C>T	CCDS11154.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_017533			100	99		371	368	1		1			0	0	92	0		1	0	0	0	0	0	0	100	371
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380). {ECO:0000305}.	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)			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						CTCATGTTTGCGTAGACCCTT	0.393																																						ENST00000226207.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(5533-5535)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							227.0	206.0	213.0					17																	10397923		2203	4300	6503	SO:0001583	missense	4619	1	121412	33				g.chr17:10397923C>T		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.5534G>A	chr17.hg19:g.10397923C>T	ENSP00000226207:p.Arg1845His	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.R1845H	NM_005963.3	NP_005954.3	1	2	3	2.017774	P12882	MYH1_HUMAN		38	5628	-			Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	1	1	hg19	c.5534G>A	CCDS11155.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955331	0.73902	.	.	ENSG00000109061	ENST00000226207	D	0.83163	-1.69	5.09	5.09	0.68999	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.88548	0.6466	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.48304	0.573	D	0.90525	0.4491	10	0.56958	D	0.05	.	18.8437	0.92196	0.0:1.0:0.0:0.0	.	1845	P12882	MYH1_HUMAN	H	1845	ENSP00000226207:R1845H	ENSP00000226207:R1845H	R	-	2	0	0	MYH1	10338648	10338648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.044000	0.71012	2.523000	0.85059	0.561000	0.74099	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_005963			97	97		526	515	1		1			0	0	120	0		1	0	0	0	0	0	0	97	526
MYH1	4619	broad.mit.edu	37	17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1643				A -> D (in Ref. 4; CAA27380). {ECO:0000305}.	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)			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						TTCCTCAGGGCCTCAGCAGCC	0.502																																						ENST00000226207.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(4927-4929)Gcc>Acc		myosin, heavy chain 1, skeletal muscle, adult							182.0	163.0	170.0					17																	10399596		2203	4300	6503	SO:0001583	missense	4619	1	121412	32				g.chr17:10399596C>T		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.4927G>A	chr17.hg19:g.10399596C>T	ENSP00000226207:p.Ala1643Thr	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A1643T	NM_005963.3	NP_005954.3	1	2	3	2.017774	P12882	MYH1_HUMAN		34	5021	-			Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	1	1	hg19	c.4927G>A	CCDS11155.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076045	0.36662	.	.	ENSG00000109061	ENST00000226207	T	0.79845	-1.31	5.53	5.53	0.82687	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76011	0.3928	M	0.62154	1.92	0.42200	D	0.991768	B	0.06786	0.001	B	0.15052	0.012	T	0.71163	-0.4673	10	0.40728	T	0.16	.	9.0459	0.36347	0.1477:0.7783:0.0:0.074	.	1643	P12882	MYH1_HUMAN	T	1643	ENSP00000226207:A1643T	ENSP00000226207:A1643T	A	-	1	0	0	MYH1	10340321	10340321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.784000	0.38674	2.758000	0.94735	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	0		2	2	2	0		0	0	153		153	154	1	2.060000	-20.000000	1	0.170000	NM_005963			125	121		586	572	1		1			0	0	153	0		1	0	0	0	0	0	0	125	586
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	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.R445L(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						CTGGTTGATGCGGGTGACCAT	0.463																																						ENST00000226207.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R445L(1)	endometrium(1)	176						c.(1333-1335)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							246.0	225.0	232.0					17																	10415238		2203	4300	6503	SO:0001583	missense	4619	1	121412	35				g.chr17:10415238C>T		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.1334G>A	chr17.hg19:g.10415238C>T	ENSP00000226207:p.Arg445His	0					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.R445H	NM_005963.3	NP_005954.3	1	2	3	2.017774	P12882	MYH1_HUMAN		14	1428	-			Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	1	1	hg19	c.1334G>A	CCDS11155.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	0	MYH1	10355963	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	1		2	2	2	0		0	0	245		245	243	1	2.060000	-20.000000	1	0.170000	NM_005963			244	240		973	946	1		1			0	0	245	0		1	0	0	0	0	0	0	244	973
MYH2	4620	broad.mit.edu	37	17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000245503.5	-	19	2457	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	691	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)			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						CAAGCTCATGCTCCATGGCAC	0.453																																						ENST00000245503.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(2071-2073)gaG>gaT		myosin, heavy chain 2, skeletal muscle, adult							85.0	80.0	82.0					17																	10438497		2203	4300	6503	SO:0001583	missense	4620	0	0					g.chr17:10438497C>A		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.2073G>T	chr17.hg19:g.10438497C>A	ENSP00000245503:p.Glu691Asp	0					RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|CTC-297N7.11_ENST00000587182.2_RNA	p.E691D	NM_017534.5	NP_060004.3	1	2	3	2.017774	Q9UKX2	MYH2_HUMAN		19	2457	-			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	1	1	hg19	c.2073G>T	CCDS11156.1	1	.	.	.	.	.	.	.	.	.	.	C	3.634	-0.074998	0.07184	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.1	2.96	0.34315	5.1	2.96	0.34315	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001342	T	0.55737	0.1939	N	0.01152	-0.98	0.41702	D	0.989408	B	0.02656	0.0	B	0.06405	0.002	T	0.57394	-0.7819	10	0.02654	T	1	.	8.1088	0.30903	0.0:0.6937:0.0:0.3063	.	691	Q9UKX2	MYH2_HUMAN	D	691	ENSP00000245503:E691D;ENSP00000380367:E691D	ENSP00000245503:E691D	E	-	3	2	2	MYH2	10379222	10379222	0.222000	0.23652	1.000000	0.80357	0.845000	0.48019	-0.368000	0.07543	1.363000	0.46019	0.591000	0.81541	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_017534			60	60		243	236	1		1			0	0	70	0		1	0	0	0	0	0	0	60	243
MYH2	4620	broad.mit.edu	37	17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000245503.5	-	10	1274	c.890A>C	c.(889-891)aAa>aCa	p.K297T	MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	297	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)			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						AAGTTCTGGTTTCTTATTCGA	0.343																																						ENST00000245503.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				176						c.(889-891)aAa>aCa		myosin, heavy chain 2, skeletal muscle, adult							53.0	54.0	53.0					17																	10446206		2202	4293	6495	SO:0001583	missense	4620	0	0					g.chr17:10446206T>G		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.890A>C	chr17.hg19:g.10446206T>G	ENSP00000245503:p.Lys297Thr	0					MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|CTC-297N7.11_ENST00000587182.2_RNA	p.K297T	NM_017534.5	NP_060004.3	1	2	3	2.017774	Q9UKX2	MYH2_HUMAN		10	1274	-			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	1	1	hg19	c.890A>C	CCDS11156.1	1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457002	0.63401	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.71341	-0.56;-0.56;-0.56	4.89	4.89	0.63831	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000958	T	0.82051	0.4953	M	0.67517	2.055	0.58432	D	0.999994	D;P	0.65815	0.995;0.577	D;P	0.85130	0.997;0.833	D	0.84078	0.0383	10	0.72032	D	0.01	.	13.8513	0.63499	0.0:0.0:0.0:1.0	.	297;297	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	297	ENSP00000433944:K297T;ENSP00000245503:K297T;ENSP00000380367:K297T	ENSP00000245503:K297T	K	-	2	0	0	MYH2	10386931	10386931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.063000	0.61619	0.528000	0.53228	AAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_017534			29	29		120	118	1		1			0	0	50	0		1	0	0	0	0	0	0	29	120
MYH3	4621	broad.mit.edu	37	17	10532983	10532983	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1909					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)			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						TATCCGCACGTTCCTCGGCCT	0.552																																						ENST00000583535.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.998433	0.990000	1.000000																										0				83						c.(5725-5727)gaA>gaG		myosin, heavy chain 3, skeletal muscle, embryonic							86.0	77.0	80.0					17																	10532983		2203	4300	6503	SO:0001819	synonymous_variant	4621	0	0					g.chr17:10532983T>C		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.5727A>G	chr17.hg19:g.10532983T>C		0					MYH3_ENST00000226209.7_Silent_p.E1909E	p.E1909E	NM_002470.3	NP_002461.2	1	2	3	2.017774	P11055	MYH3_HUMAN		40	5814	-			Q15492	Silent	SNP	ENST00000583535.1	1	1	hg19	c.5727A>G	CCDS11157.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	1	0	1		2	2	2	0		0	0	72		72	68	1	2.060000	-16.779880	1	0.170000	NM_002470			45	42		361	356	1		1	0		0	0	72	0		1	3.583451e-02	0	1	0	2	0	45	361
MYH3	4621	broad.mit.edu	37	17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	590	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)			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						ACCTGAGACACTGTAGTCCAC	0.552																																						ENST00000583535.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1768-1770)aGt>aTt		myosin, heavy chain 3, skeletal muscle, embryonic							165.0	158.0	161.0					17																	10545853		2203	4300	6503	SO:0001583	missense	4621	0	0					g.chr17:10545853C>A		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.1769G>T	chr17.hg19:g.10545853C>A	ENSP00000464317:p.Ser590Ile	0					MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	p.S590I	NM_002470.3	NP_002461.2	1	2	3	2.017774	P11055	MYH3_HUMAN		16	1856	-			Q15492	Missense_Mutation	SNP	ENST00000583535.1	1	1	hg19	c.1769G>T	CCDS11157.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668877	0.47677	.	.	ENSG00000109063	ENST00000226209	T	0.73789	-0.78	4.71	3.74	0.42951	4.71	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	T	0.71728	0.3374	M	0.79011	2.435	0.40627	D	0.981821	B	0.30870	0.298	B	0.32583	0.148	T	0.73754	-0.3883	9	0.87932	D	0	.	5.7549	0.18168	0.0:0.6681:0.0:0.3319	.	590	P11055	MYH3_HUMAN	I	590	ENSP00000226209:S590I	ENSP00000226209:S590I	S	-	2	0	0	MYH3	10486578	10486578	0.998000	0.40836	0.994000	0.49952	0.946000	0.59487	3.265000	0.51561	1.340000	0.45581	0.650000	0.86243	AGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	1	0	1		2	2	2	0		0	0	145		145	142	1	2.060000	-20.000000	1	0.170000	NM_002470			130	127		594	581	1		1	0		0	0	145	0		1	3.249338e-02	0	0	0	2	0	130	594
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	C	T	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	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)			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						TTGGAAGCTTCGTATCCAGTT	0.383																																						ENST00000583535.1	1.000000	0.260000	6.000000e-01	3.400000e-01	0.440000	0.499861	0.440000	0.420000																										0				83						c.(1348-1350)acG>acA		myosin, heavy chain 3, skeletal muscle, embryonic		G		4,4402	9.9+/-24.2	0,4,2199	138.0	134.0	135.0		1350	-9.0	0.2	17	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	MYH3	NM_002470.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		450/1941	10547728	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4621	14	121412	44				g.chr17:10547728C>T		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.1350G>A	chr17.hg19:g.10547728C>T		0					MYH3_ENST00000226209.7_Silent_p.T450T	p.T450T	NM_002470.3	NP_002461.2	1	2	3	2.017774	P11055	MYH3_HUMAN		14	1437	-			Q15492	Silent	SNP	ENST00000583535.1	1	1	hg19	c.1350G>A	CCDS11157.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.936122	1	0.170000	NM_002470			19	19		513	507	0		1			0	0	80	0		9.999899e-01	0	0	0	0	0	0	19	513
SCO1	6341	broad.mit.edu	37	17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	192					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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(574-576)Act>Gct		SCO1 cytochrome c oxidase assembly protein							113.0	108.0	110.0					17																	10595270		2203	4300	6503	SO:0001583	missense	6341	0	0					g.chr17:10595270T>C	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.574A>G	chr17.hg19:g.10595270T>C	ENSP00000255390:p.Thr192Ala	0					SCO1_ENST00000577427.1_Missense_Mutation_p.T161A|SCO1_ENST00000582053.1_5'Flank	p.T192A	NM_004589.2	NP_004580.1	1	2	3	2.017774	O75880	SCO1_HUMAN		4	634	-			B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	1	1	hg19	c.574A>G	CCDS11158.1	1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050417	0.08243	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83914	-1.78	5.5	-1.17	0.09648	5.5	-1.17	0.09648	Thioredoxin-like fold (2);	0.482809	0.24419	N	0.038699	T	0.66396	0.2785	N	0.11255	0.115	0.32910	D	0.514421	B;B	0.22800	0.075;0.004	B;B	0.32393	0.145;0.031	T	0.56685	-0.7938	10	0.08179	T	0.78	-10.4468	15.0142	0.71570	0.7322:0.0:0.0:0.2677	.	161;192	A8MY34;O75880	.;SCO1_HUMAN	A	192;161	ENSP00000255390:T192A	ENSP00000255390:T192A	T	-	1	0	0	SCO1	10535995	10535995	0.977000	0.34250	0.463000	0.27130	0.777000	0.43975	1.403000	0.34612	-0.456000	0.07043	-0.438000	0.05819	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_004589			52	51		250	247	1		1	1		0	0	44	0		1	1	0	62	0	99	0	52	250
DNAH9	1770	broad.mit.edu	37	17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.4	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	491	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)			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)		GAGATGTACAGGCTTCTCTCA	0.547																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999443	0.990000	1.000000																										0				290						c.(1471-1473)aGg>aTg		dynein, axonemal, heavy chain 9							107.0	101.0	103.0					17																	11532855		2203	4300	6503	SO:0001583	missense	1770	0	0					g.chr17:11532855G>T	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.1472G>T	chr17.hg19:g.11532855G>T	ENSP00000262442:p.Arg491Met	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	p.R491M	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		7	1540	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.1472G>T	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656503	0.47467	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56941	0.43;0.43	5.61	1.84	0.25277	5.61	1.84	0.25277	Dynein heavy chain, domain-1 (1);	0.323004	0.31020	N	0.008406	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	B	0.33413	0.411	P	0.47102	0.537	T	0.52852	-0.8520	10	0.54805	T	0.06	.	7.0825	0.25239	0.5122:0.0:0.4878:0.0	.	491	Q9NYC9	DYH9_HUMAN	M	491	ENSP00000262442:R491M;ENSP00000414874:R491M	ENSP00000262442:R491M	R	+	2	0	0	DNAH9	11473580	11473580	0.956000	0.32656	0.989000	0.46669	0.184000	0.23303	0.847000	0.27696	0.606000	0.29965	0.655000	0.94253	AGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001372			48	47		365	357	1		1	0		0	0	87	0		1	1.419138e-02	0	0	0	2	0	48	365
DNAH9	1770	broad.mit.edu	37	17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.4	+	8	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	528	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)			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)		AGATTGGGGACTATCTTTATT	0.433																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(1582-1584)aCt>aTt		dynein, axonemal, heavy chain 9							125.0	121.0	123.0					17																	11535968		2203	4300	6503	SO:0001583	missense	1770	0	0					g.chr17:11535968C>T	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.1583C>T	chr17.hg19:g.11535968C>T	ENSP00000262442:p.Thr528Ile	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	p.T528I	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		8	1651	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.1583C>T	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058066	0.36277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.18	4.0	0.46444	5.18	4.0	0.46444	Dynein heavy chain, domain-1 (1);	2.959590	0.01254	N	0.008973	T	0.64659	0.2618	M	0.63843	1.955	0.31554	N	0.658352	P	0.49090	0.919	P	0.49597	0.616	T	0.57318	-0.7832	10	0.72032	D	0.01	.	11.5811	0.50891	0.0:0.899:0.0:0.101	.	528	Q9NYC9	DYH9_HUMAN	I	528	ENSP00000262442:T528I;ENSP00000414874:T528I	ENSP00000262442:T528I	T	+	2	0	0	DNAH9	11476693	11476693	0.612000	0.27000	0.775000	0.31657	0.083000	0.17756	3.276000	0.51646	2.427000	0.82271	0.650000	0.86243	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_001372			81	80		454	444	1		1	0		0	0	101	0		1	0	0	0	0	1	0	81	454
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	787	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.C787C(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)		CAGGCATTTGCGATTATGTCA	0.358																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C787C(1)	large_intestine(1)	290						c.(2359-2361)tgC>tgT		dynein, axonemal, heavy chain 9							93.0	92.0	93.0					17																	11556085		2203	4300	6503	SO:0001819	synonymous_variant	1770	1	121412	29				g.chr17:11556085C>T	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.2361C>T	chr17.hg19:g.11556085C>T		0					DNAH9_ENST00000454412.2_Silent_p.C787C	p.C787C	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		14	2429	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	1	1	hg19	c.2361C>T	CCDS11160.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_001372			65	64		344	340	1		1			0	0	78	0		1	0	0	0	0	0	0	65	344
DNAH9	1770	broad.mit.edu	37	17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.4	+	30	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2018	AAA 1. {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)			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)		GAAGCCCAGTCATTAGCCAGA	0.458																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(6052-6054)tCa>tTa		dynein, axonemal, heavy chain 9							192.0	168.0	176.0					17																	11645572		2203	4300	6503	SO:0001583	missense	1770	0	0					g.chr17:11645572C>T	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.6053C>T	chr17.hg19:g.11645572C>T	ENSP00000262442:p.Ser2018Leu	0					AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	p.S2018L	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		30	6121	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.6053C>T	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640598	0.03557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	5.61	-1.09	0.09904	5.61	-1.09	0.09904	.	1.252010	0.05540	N	0.565486	T	0.19604	0.0471	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.02654	T	1	.	11.5605	0.50774	0.0:0.5102:0.0:0.4898	.	2018	Q9NYC9	DYH9_HUMAN	L	2018;2018;600	ENSP00000262442:S2018L;ENSP00000414874:S2018L	ENSP00000262442:S2018L	S	+	2	0	0	DNAH9	11586297	11586297	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.755000	0.26405	-0.064000	0.13043	-0.322000	0.08575	TCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.224568	1	0.170000	NM_001372			87	83		391	387	1		1			0	0	94	0		1	0	0	0	0	0	0	87	391
DNAH9	1770	broad.mit.edu	37	17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	rs138652506	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.4	+	32	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2. {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)			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)		CCTGGCTGTGCGGCACTCTGT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		17074	0.002		0.0	False		,,,				2504	0.0					ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(6430-6432)Cgg>Tgg		dynein, axonemal, heavy chain 9		C	TRP/ARG	0,4406		0,0,2203	65.0	61.0	62.0		6430	0.1	0.3	17	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2144/4487	11650903	1,13005	2203	4300	6503	SO:0001583	missense	1770	25	121412	44				g.chr17:11650903C>T	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.6430C>T	chr17.hg19:g.11650903C>T	ENSP00000262442:p.Arg2144Trp	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	p.R2144W	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		32	6498	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.6430C>T	CCDS11160.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.38	3.611421	0.66558	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.03	0.113	0.14631	5.03	0.113	0.14631	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.70254	0.3203	H	0.99740	4.74	0.80722	D	1	D	0.55605	0.972	P	0.50537	0.643	D	0.83810	0.0241	10	0.72032	D	0.01	.	13.858	0.63542	0.5383:0.4617:0.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	W	2144;2144;726	ENSP00000262442:R2144W;ENSP00000414874:R2144W	ENSP00000262442:R2144W	R	+	1	2	2	DNAH9	11591628	11591628	0.013000	0.17824	0.299000	0.25016	0.864000	0.49448	0.130000	0.15850	0.093000	0.17368	0.557000	0.71058	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.092427	1	0.170000	NM_001372			41	41		186	181	1		1			0	0	46	0		1	0	0	0	0	0	0	41	186
DNAH9	1770	broad.mit.edu	37	17	11684429	11684429	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.4	+	39	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000454412.2_Silent_p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2552	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		TGCCTGAGGTGGATGCCTACG	0.552																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999889	0.990000	1.000000																										0				290						c.(7654-7656)gtG>gtT		dynein, axonemal, heavy chain 9							68.0	56.0	60.0					17																	11684429		2203	4300	6503	SO:0001819	synonymous_variant	1770	0	0					g.chr17:11684429G>T	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.7656G>T	chr17.hg19:g.11684429G>T		0					DNAH9_ENST00000454412.2_Silent_p.V2552V	p.V2552V	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		39	7724	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	1	1	hg19	c.7656G>T	CCDS11160.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.328520	1	0.170000	NM_001372			30	30		178	172	1		1			0	0	58	0		1	0	0	0	0	0	0	30	178
DNAH9	1770	broad.mit.edu	37	17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.4	+	41	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2657	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		TCTGGCCCTCGCCTTCCACCA	0.502																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(7969-7971)Gcc>Acc		dynein, axonemal, heavy chain 9							172.0	162.0	166.0					17																	11687764		2203	4300	6503	SO:0001583	missense	1770	1	121412	34				g.chr17:11687764G>A	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.7969G>A	chr17.hg19:g.11687764G>A	ENSP00000262442:p.Ala2657Thr	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	p.A2657T	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		41	8037	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.7969G>A	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055534	0.19907	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41758	0.99;0.99	5.56	0.599	0.17519	5.56	0.599	0.17519	.	0.197317	0.45126	N	0.000395	T	0.24736	0.0600	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.04961	-1.0915	10	0.19590	T	0.45	.	3.973	0.09462	0.4292:0.0:0.4033:0.1676	.	2657	Q9NYC9	DYH9_HUMAN	T	2657;2657;1239	ENSP00000262442:A2657T;ENSP00000414874:A2657T	ENSP00000262442:A2657T	A	+	1	0	0	DNAH9	11628489	11628489	0.041000	0.20044	0.972000	0.41901	0.532000	0.34746	1.208000	0.32345	0.313000	0.23062	-1.552000	0.00895	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		22	2	2	1		1	2	184		184	182	1	2.060000	-20.000000	1	0.170000	NM_001372			140	135		727	702	1		1			1	0	184	0		1	0	0	0	0	0	0	140	727
DNAH9	1770	broad.mit.edu	37	17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.4	+	42	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2715					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)			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)		AAATCGAGTTTATCGGGATAA	0.398																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(8143-8145)Tat>Cat		dynein, axonemal, heavy chain 9							138.0	135.0	136.0					17																	11696901		2203	4300	6503	SO:0001583	missense	1770	0	0					g.chr17:11696901T>C	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.8143T>C	chr17.hg19:g.11696901T>C	ENSP00000262442:p.Tyr2715His	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	p.Y2715H	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		42	8211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.8143T>C	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611899	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40756	1.02;1.02	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.140928	0.49916	D	0.000140	T	0.71281	0.3321	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2715	Q9NYC9	DYH9_HUMAN	H	2715;2715;1297	ENSP00000262442:Y2715H;ENSP00000414874:Y2715H	ENSP00000262442:Y2715H	Y	+	1	0	0	DNAH9	11637626	11637626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		20	2	2	0		0	1	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001372			86	85		382	375	1		1			0	0	74	0		1	0	0	0	0	0	0	86	382
DNAH9	1770	broad.mit.edu	37	17	11711199	11711199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.4	+	44	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000454412.2_Silent_p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2857	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)			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)		GCTACCAGATCCAGGACTTCA	0.557																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(8569-8571)atC>atA		dynein, axonemal, heavy chain 9							57.0	51.0	53.0					17																	11711199		2203	4300	6503	SO:0001819	synonymous_variant	1770	0	0					g.chr17:11711199C>A	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.8571C>A	chr17.hg19:g.11711199C>A		0					DNAH9_ENST00000454412.2_Silent_p.I2857I	p.I2857I	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		44	8639	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	1	1	hg19	c.8571C>A	CCDS11160.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001372			52	49		186	184	0		1			0	0	63	0		1	0	0	0	0	0	0	52	186
DNAH9	1770	broad.mit.edu	37	17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.4	+	50	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3286	Stalk. {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)			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)		GAACCCAAGCGCCAGGCACTG	0.562																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(9856-9858)cGc>cAc		dynein, axonemal, heavy chain 9							71.0	73.0	73.0					17																	11757669		2203	4300	6503	SO:0001583	missense	1770	8	121412	40				g.chr17:11757669G>A	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.9857G>A	chr17.hg19:g.11757669G>A	ENSP00000262442:p.Arg3286His	0					DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	p.R3286H	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		50	9925	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.9857G>A	CCDS11160.1	1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813593	0.70912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.239323	0.41097	D	0.000942	D	0.94248	0.8153	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95977	0.8974	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	3286	Q9NYC9	DYH9_HUMAN	H	3286;3286;1868	ENSP00000262442:R3286H;ENSP00000414874:R3286H	ENSP00000262442:R3286H	R	+	2	0	0	DNAH9	11698394	11698394	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.384000	0.79751	2.828000	0.97474	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_001372			116	113		479	468	1		1			0	0	100	0		1	0	0	0	0	0	0	116	479
DNAH9	1770	broad.mit.edu	37	17	11845625	11845625	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.4	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.K534K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4222					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)			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)		GGCAGGTCAAGGCACTTCTGG	0.498																																						ENST00000262442.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				290						c.(12664-12666)aaG>aaA		dynein, axonemal, heavy chain 9							164.0	158.0	160.0					17																	11845625		2203	4300	6503	SO:0001819	synonymous_variant	1770	0	0					g.chr17:11845625G>A	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.12666G>A	chr17.hg19:g.11845625G>A		0					DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.K534K|DNAH9_ENST00000454412.2_Silent_p.K4146K	p.K4222K	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		67	12734	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	1	1	hg19	c.12666G>A	CCDS11160.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	166		166	165	1	2.060000	-20.000000	1	0.170000	NM_001372			147	143		762	742	0		1			0	0	166	0		1	0	0	0	0	0	0	147	762
DNAH9	1770	broad.mit.edu	37	17	11865483	11865483	+	Silent	SNP	G	G	A	rs138480985|rs573981769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.4	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.T693T|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4381					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)			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)		GTGACATGACGAAGAAGAACA	0.552																																						ENST00000262442.4	1.000000	0.690000	1	8.300000e-01	0.990000	0.936349	0.990000	1.000000																										0				290						c.(13141-13143)acG>acA		dynein, axonemal, heavy chain 9		A	,	0,4406		0,0,2203	76.0	76.0	76.0		13143,2079	-10.1	0.4	17	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	4381/4487,693/799	11865483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1770	2	121152	36				g.chr17:11865483G>A	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.13143G>A	chr17.hg19:g.11865483G>A		0					DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Silent_p.T693T|DNAH9_ENST00000454412.2_Silent_p.T4305T	p.T4381T	NM_001372.3	NP_001363.2	1	2	3	2.017774	Q9NYC9	DYH9_HUMAN		68	13211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	1	1	hg19	c.13143G>A	CCDS11160.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.318794	1	0.170000	NM_001372			32	31		358	353	0		1	0		0	0	101	0		1	0	0	0	0	1	0	32	358
ZNF18	7566	broad.mit.edu	37	17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	49	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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)		ACATCACCTGGTAACGGAACT	0.547																																						ENST00000322748.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(145-147)taC>taA		zinc finger protein 18							95.0	89.0	91.0					17																	11896000		2203	4300	6503	SO:0001587	stop_gained	7566	0	0					g.chr17:11896000G>T	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.147C>A	chr17.hg19:g.11896000G>T	ENSP00000315664:p.Tyr49*	0					ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*	p.Y49*	NM_144680.2	NP_653281.2	1	2	3	2.017774	P17022	ZNF18_HUMAN		4	751	-			Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	ENST00000322748.3	0	1	hg19	c.147C>A	CCDS32568.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.544561	0.96488	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.29	3.31	0.37934	5.29	3.31	0.37934	.	0.000000	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1966	7.8206	0.29286	0.1889:0.0:0.8111:0.0	.	.	.	.	X	49	.	ENSP00000315664:Y49X	Y	-	3	2	2	ZNF18	11836725	11836725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.417000	0.44653	0.628000	0.30357	0.655000	0.94253	TAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	XM_085596			69	69		336	332	1		1	1		0	0	86	0		1	9.782649e-01	0	4	0	28	0	69	336
MAP2K4	6416	broad.mit.edu	37	17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000353533.5	+	3	310	c.247T>G	c.(247-249)Tca>Gca	p.S83A	MAP2K4_ENST00000581941.1_3'UTR|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	83					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.?(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)		CAGCATTGAGTCATCAGGAAA	0.378			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000353533.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		17	17p11.2	17p11.2	6416	D, Mis, N	mitogen-activated protein kinase kinase 4				E	E			pancreatic, breast, colorectal		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	100						c.(247-249)Tca>Gca		mitogen-activated protein kinase kinase 4							82.0	78.0	79.0					17																	11984701		2203	4300	6503	SO:0001583	missense	6416	0	0					g.chr17:11984701T>G	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.247T>G	chr17.hg19:g.11984701T>G	ENSP00000262445:p.Ser83Ala	0					MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A	p.S83A	NM_003010.2	NP_003001.1	1	2	3	2.017774	P45985	MP2K4_HUMAN		3	310	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	1	1	hg19	c.247T>G	CCDS11162.1	1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573666	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72505	-0.55;-0.66	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64997	1.995	0.80722	D	1	B;B	0.26975	0.165;0.103	B;B	0.30855	0.121;0.023	T	0.70666	-0.4809	10	0.59425	D	0.04	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	94;83	P45985-2;P45985	.;MP2K4_HUMAN	A	83;94;60	ENSP00000262445:S83A;ENSP00000410402:S94A	ENSP00000262445:S83A	S	+	1	0	0	MAP2K4	11925426	11925426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.123000	0.65237	0.459000	0.35465	TCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000				102	100		358	352	1		1	1	1	0	0	65	663		1	9.997784e-01	1	10	134	36	589	102	358
YWHAE	7531	broad.mit.edu	37	17	1257631	1257631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	ENST00000264335.8	-	5	856	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	197					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAAAAGCTGCTTTTGCCAAC	0.348			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8	1.000000	0.250000	8.600000e-01	3.800000e-01	0.560000	0.602893	0.560000	0.510000				Dom	yes			Dom	yes		17	17p13.3	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	yes	Miller-Dieker lissencephaly syndrome	M	M	FAM22a, FAM22B		edometrial stromal sarcoma		0				14						c.(589-591)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon							88.0	71.0	77.0					17																	1257631		2203	4300	6503	SO:0001583	missense	7531	0	0					g.chr17:1257631C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.589G>A	chr17.hg19:g.1257631C>T	ENSP00000264335:p.Ala197Thr	0					YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T	p.A197T	NM_006761.4	NP_006752.1	1	2	3	2.017774	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	5	856	-			B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	0	1	hg19	c.589G>A	CCDS11001.1	0	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020559	0.75275	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.41065	1.01	5.51	5.51	0.81932	5.51	5.51	0.81932	14-3-3 domain (4);	0.128998	0.50627	U	0.000101	T	0.27663	0.0680	N	0.11756	0.17	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.06899	-1.0801	10	0.21014	T	0.42	-6.4486	16.9304	0.86189	0.0:1.0:0.0:0.0	.	197	P62258	1433E_HUMAN	T	197;175	ENSP00000264335:A197T	ENSP00000264335:A197T	A	-	1	0	0	YWHAE	1204381	1204381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.885000	0.56182	2.580000	0.87095	0.650000	0.86243	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-10.576290	1	0.170000	NM_006761			8	8		177	177	0		1	1		0	0	40	0		9.898493e-01	1	0	157	0	1871	0	8	177
YWHAE	7531	broad.mit.edu	37	17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	133					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17p13.3	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	yes	Miller-Dieker lissencephaly syndrome	M	M	FAM22a, FAM22B		edometrial stromal sarcoma		0				14						c.(397-399)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon							91.0	87.0	88.0					17																	1264567		2203	4300	6503	SO:0001583	missense	7531	0	0					g.chr17:1264567C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.397G>A	chr17.hg19:g.1264567C>T	ENSP00000264335:p.Ala133Thr	0					YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T	p.A133T	NM_006761.4	NP_006752.1	1	2	3	2.017774	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	4	664	-			B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	1	1	hg19	c.397G>A	CCDS11001.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.265945	0.95399	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.52983	0.64	5.25	5.25	0.73442	5.25	5.25	0.73442	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.76478	0.3993	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83363	0.0003	10	0.87932	D	0	-3.0444	16.4303	0.83840	0.0:1.0:0.0:0.0	.	133	P62258	1433E_HUMAN	T	133;111	ENSP00000264335:A133T	ENSP00000264335:A133T	A	-	1	0	0	YWHAE	1211317	1211317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.454000	0.82982	0.650000	0.86243	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_006761			96	94		441	432	1		1	1		0	0	100	0		1	1	0	594	0	1426	0	96	441
MAP2K4	6416	broad.mit.edu	37	17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000353533.5	+	9	1073	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S348Y	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	337	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.?(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)		AGGGAATTCTCCCCGAGTTTC	0.428			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000353533.5	1.000000	0.330000	7.800000e-01	4.300000e-01	0.560000	0.609125	0.560000	0.540000				Rec	yes			Rec	yes		17	17p11.2	17p11.2	6416	D, Mis, N	mitogen-activated protein kinase kinase 4				E	E			pancreatic, breast, colorectal		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	100						c.(1009-1011)tCc>tAc		mitogen-activated protein kinase kinase 4							114.0	108.0	110.0					17																	12032574		2203	4300	6503	SO:0001583	missense	6416	0	0					g.chr17:12032574C>A	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.1010C>A	chr17.hg19:g.12032574C>A	ENSP00000262445:p.Ser337Tyr	0					MAP2K4_ENST00000415385.3_Missense_Mutation_p.S348Y	p.S337Y	NM_003010.2	NP_003001.1	1	2	3	2.017774	P45985	MP2K4_HUMAN		9	1073	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	1	1	hg19	c.1010C>A	CCDS11162.1	0	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983003	0.93044	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.974;0.985	T	0.72855	-0.4166	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	209;348;337	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Y	337;348;314;209	ENSP00000262445:S337Y;ENSP00000410402:S348Y	ENSP00000262445:S337Y	S	+	2	0	0	MAP2K4	11973299	11973299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	1		2	2	7	0		0	0	47		47	46	1	2.060000	-2.831705	1	0.170000				16	16		336	332	0		1	1	1	0	1	47	602		9.999317e-01	9.393569e-01	9.999486e-01	3	41	99	686	16	336
ELAC2	60528	broad.mit.edu	37	17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	467					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGTCCTGCGCACTCCTCCT	0.567																																						ENST00000338034.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999890	0.990000	1.000000																										0				23						c.(1399-1401)gCg>gTg		elaC ribonuclease Z 2							53.0	51.0	52.0					17																	12903496		2203	4300	6503	SO:0001583	missense	60528	2	121412	35				g.chr17:12903496G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1400C>T	chr17.hg19:g.12903496G>A	ENSP00000337445:p.Ala467Val	0					ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	p.A467V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	1	2	3	2.017774	Q9BQ52	RNZ2_HUMAN		15	1639	-			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	0	1	hg19	c.1400C>T	CCDS11164.1	1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537678	0.27475	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64618	0.29;-0.11;-0.11	5.0	-2.19	0.07015	5.0	-2.19	0.07015	.	1.307490	0.04695	N	0.414906	T	0.36908	0.0984	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.002;0.003;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.0;0.001;0.002	T	0.25916	-1.0118	10	0.09084	T	0.74	-0.8698	9.9441	0.41598	0.4499:0.0:0.5501:0.0	.	427;450;448;265;467;227;452;95	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	427;467;448;145	ENSP00000405223:A427V;ENSP00000337445:A467V;ENSP00000379291:A448V	ENSP00000337445:A467V	A	-	2	0	0	ELAC2	12844221	12844221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.146000	0.03191	-0.586000	0.05898	-0.142000	0.14014	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	0		20	18	2	1		1	1	43		43	43	1	2.060000	-20.000000	1	0.170000				37	37		237	234	0		1	1		1	0	43	0		9.933835e-01	9.888849e-01	0	83	0	153	0	37	237
ELAC2	60528	broad.mit.edu	37	17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	450					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A450V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577																																						ENST00000338034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A450V(1)	lung(1)	23						c.(1348-1350)gCg>gTg		elaC ribonuclease Z 2							65.0	63.0	64.0					17																	12903547		2203	4300	6503	SO:0001583	missense	60528	1	121412	28				g.chr17:12903547G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1349C>T	chr17.hg19:g.12903547G>A	ENSP00000337445:p.Ala450Val	0					ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	p.A450V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	1	2	3	2.017774	Q9BQ52	RNZ2_HUMAN		15	1588	-			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	1	1	hg19	c.1349C>T	CCDS11164.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860073	0.32884	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.65178	0.29;-0.13;-0.14	5.0	4.03	0.46877	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.62723	1.935	0.80722	D	1	D;B;D;B;D;D;P;P	0.89917	1.0;0.414;0.999;0.414;1.0;0.987;0.888;0.55	D;B;D;B;D;P;B;B	0.87578	0.998;0.087;0.966;0.041;0.998;0.64;0.28;0.18	T	0.70135	-0.4955	10	0.27785	T	0.31	-20.3679	11.023	0.47728	0.0901:0.0:0.9099:0.0	.	410;433;431;248;450;210;435;78	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	410;450;431;128	ENSP00000405223:A410V;ENSP00000337445:A450V;ENSP00000379291:A431V	ENSP00000337445:A450V	A	-	2	0	0	ELAC2	12844272	12844272	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.790000	0.85794	1.345000	0.45676	0.650000	0.86243	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				52	51		231	227	1		1	1		0	0	57	0		1	1	0	71	0	145	0	52	231
CRK	1398	broad.mit.edu	37	17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000574295.1_Splice_Site	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	134	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463																																						ENST00000300574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(400-402)gCg>gTg		v-crk avian sarcoma virus CT10 oncogene homolog							109.0	103.0	105.0					17																	1340290		2203	4300	6503	SO:0001583	missense	1398	4	121412	38				g.chr17:1340290G>A	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.401C>T	chr17.hg19:g.1340290G>A	ENSP00000300574:p.Ala134Val	0					CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000574295.1_Splice_Site	p.A134V	NM_016823.3	NP_058431.2	1	2	3	2.017774	P46108	CRK_HUMAN		2	541	-			A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	0	1	hg19	c.401C>T	CCDS11002.1	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813633	0.50527	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.40476	2.05;1.03	5.73	4.77	0.60923	5.73	4.77	0.60923	Src homology-3 domain (2);	0.486247	0.24130	N	0.041279	T	0.21631	0.0521	N	0.10733	0.035	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.06607	-1.0817	10	0.26408	T	0.33	-10.8069	9.0027	0.36092	0.166:0.0:0.834:0.0	.	134;134	P46108-2;P46108	.;CRK_HUMAN	V	134	ENSP00000300574:A134V;ENSP00000381942:A134V	ENSP00000300574:A134V	A	-	2	0	0	CRK	1287040	1287040	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	1.571000	0.49722	0.655000	0.94253	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_016823			128	126		445	436	1		1	1		0	0	136	0		1	1	0	56	0	165	0	128	445
MYO1C	4641	broad.mit.edu	37	17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	rs147805425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000575158.1	-	13	1482	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000359786.5_Missense_Mutation_p.V471I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	438	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19164	0.001		0.0	False		,,,				2504	0.0					ENST00000575158.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1306-1308)Gtc>Atc		myosin IC		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	108.0	106.0	107.0		1411,1354,1306	5.1	1.0	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	471/1064,452/1045,436/1029	1381256	1,13005	2203	4300	6503	SO:0001583	missense	4641	9	121412	45				g.chr17:1381256C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1306G>A	chr17.hg19:g.1381256C>T	ENSP00000459174:p.Val436Ile	0					MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000359786.5_Missense_Mutation_p.V471I|MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000573198.1_5'Flank	p.V436I			1	2	3	2.017774	Q12965	MYO1E_HUMAN		13	1482	-			Q14778	Missense_Mutation	SNP	ENST00000575158.1	1	1	hg19	c.1306G>A	CCDS11003.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.92	2.082513	0.36758	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.07	5.07	0.68467	5.07	5.07	0.68467	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	N	0.05441	-0.05	0.54753	D	0.999989	B;B;B	0.32620	0.18;0.378;0.149	B;B;B	0.31337	0.052;0.128;0.031	T	0.70392	-0.4884	10	0.18276	T	0.48	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	447;471;452	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	I	471;452;452;436;447;436	ENSP00000352834:V471I;ENSP00000412197:V452I;ENSP00000354283:V436I;ENSP00000437685:V447I	ENSP00000352834:V471I	V	-	1	0	0	MYO1C	1328006	1328006	0.999000	0.42202	1.000000	0.80357	0.872000	0.50106	4.021000	0.57196	2.507000	0.84556	0.563000	0.77884	GTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-3.970938	1	0.170000				150	147		561	550	1		1	1		0	0	143	0		1	1	0	94	0	349	0	150	561
MYO1C	4641	broad.mit.edu	37	17	1381754	1381754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000575158.1	-	11	1316	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000359786.5_Silent_p.T415T|MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	383	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637																																						ENST00000575158.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1138-1140)acG>acA		myosin IC							62.0	71.0	68.0					17																	1381754		2203	4300	6503	SO:0001819	synonymous_variant	4641	1	121412	33				g.chr17:1381754C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1140G>A	chr17.hg19:g.1381754C>T		0					MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000359786.5_Silent_p.T415T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000573198.1_5'Flank	p.T380T			1	2	3	2.017774	Q12965	MYO1E_HUMAN		11	1316	-			Q14778	Silent	SNP	ENST00000575158.1	1	1	hg19	c.1140G>A	CCDS11003.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-2.880030	1	0.170000				79	77		452	443	1		1	1		0	0	77	0		1	1	0	123	0	336	0	79	452
PITPNA	5306	broad.mit.edu	37	17	1438814	1438814	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478																																						ENST00000313486.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.e8-2		phosphatidylinositol transfer protein, alpha							59.0	56.0	57.0					17																	1438814		1869	4107	5976	SO:0001630	splice_region_variant	5306	0	0					g.chr17:1438814T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.457-2A>G	chr17.hg19:g.1438814T>C		0					PITPNA_ENST00000539476.1_Splice_Site		NM_006224.3	NP_006215.1	1	2	3	2.017774	Q00169	PIPNA_HUMAN		8	712	-				Splice_Site	SNP	ENST00000313486.7	1	1	hg19		CCDS45563.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187847	0.78789	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.913	0.70773	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PITPNA	1385564	1385564	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.933000	0.87642	2.205000	0.71048	0.533000	0.62120	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-19.967110	1	0.170000		Intron		36	34		161	154	1		1	0		0	0	34	0		1	3.532663e-02	0	1	0	1	0	36	161
SLC43A2	124935	broad.mit.edu	37	17	1479048	1479048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000301335.5	-	14	1648	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G	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	520					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)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682																																						ENST00000301335.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1558-1560)ggG>ggA		solute carrier family 43 (amino acid system L transporter), member 2							38.0	34.0	35.0					17																	1479048		2201	4299	6500	SO:0001819	synonymous_variant	124935	0	0					g.chr17:1479048C>T	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.1560G>A	chr17.hg19:g.1479048C>T		0					SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G|SLC43A2_ENST00000412517.3_Silent_p.G383G	p.G520G	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	1	2	3	2.017774	Q8N370	LAT4_HUMAN		14	1648	-			B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	1	1	hg19	c.1560G>A	CCDS11006.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_152346			32	32		97	95	1		1	1		0	0	24	0		1	1	0	12	0	81	0	32	97
SLC43A2	124935	broad.mit.edu	37	17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000301335.5	-	8	834	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR	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	249					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)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687																																						ENST00000301335.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(745-747)aGc>aAc		solute carrier family 43 (amino acid system L transporter), member 2							71.0	65.0	67.0					17																	1494748		2203	4300	6503	SO:0001583	missense	124935	0	0					g.chr17:1494748C>T	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.746G>A	chr17.hg19:g.1494748C>T	ENSP00000301335:p.Ser249Asn	0					SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N	p.S249N	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	1	2	3	2.017774	Q8N370	LAT4_HUMAN		8	834	-			B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	1	1	hg19	c.746G>A	CCDS11006.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465755	0.84425	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.34275	1.83;1.85;1.37	6.07	6.07	0.98685	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.80722	D	1	D;D;B;B	0.71674	0.998;0.998;0.182;0.151	D;D;B;B	0.80764	0.957;0.994;0.058;0.144	T	0.30268	-0.9984	10	0.19147	T	0.46	-21.9657	20.6439	0.99570	0.0:1.0:0.0:0.0	.	112;249;249;249	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	N	249;249;112	ENSP00000301335:S249N;ENSP00000371582:S249N;ENSP00000408284:S112N	ENSP00000301335:S249N	S	-	2	0	0	SLC43A2	1441498	1441498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.666000	0.61554	2.884000	0.98904	0.655000	0.94253	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_152346			72	72		361	357	0		1	1		0	0	81	0		1	9.999960e-01	0	4	0	88	0	72	361
ELAC2	60528	broad.mit.edu	37	17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	272					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502																																						ENST00000338034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(814-816)gCt>gAt		elaC ribonuclease Z 2							135.0	127.0	130.0					17																	12909125		2203	4300	6503	SO:0001583	missense	60528	0	0					g.chr17:12909125G>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.815C>A	chr17.hg19:g.12909125G>T	ENSP00000337445:p.Ala272Asp	0					ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D|ELAC2_ENST00000609345.1_5'UTR	p.A272D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	1	2	3	2.017774	Q9BQ52	RNZ2_HUMAN		10	1054	-			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	1	1	hg19	c.815C>A	CCDS11164.1	1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125188	0.20959	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.64618	0.33;-0.1;-0.11	4.85	3.86	0.44501	4.85	3.86	0.44501	.	0.436165	0.26463	N	0.024232	T	0.70596	0.3242	M	0.68317	2.08	0.09310	N	0.999999	D;P;D;P;D;P	0.63880	0.987;0.954;0.993;0.839;0.987;0.907	P;P;P;B;P;P	0.56916	0.649;0.467;0.809;0.347;0.649;0.475	T	0.63690	-0.6580	10	0.66056	D	0.02	-19.3785	11.1433	0.48415	0.0:0.1865:0.8135:0.0	.	232;255;253;95;272;32	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	D	232;272;253	ENSP00000405223:A232D;ENSP00000337445:A272D;ENSP00000379291:A253D	ENSP00000337445:A272D	A	-	2	0	0	ELAC2	12849850	12849850	0.815000	0.29118	0.015000	0.15790	0.760000	0.43138	2.003000	0.40844	1.356000	0.45884	0.563000	0.77884	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000				89	86		357	352	1		1	1		0	0	80	0		1	1	0	45	0	128	0	89	357
SLC43A2	124935	broad.mit.edu	37	17	1519929	1519929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000301335.5	-	3	383	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F|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	99					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)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ATGGCACTGAGCAGAAAGGAG	0.622																																						ENST00000301335.5	1.000000	0.120000	5.700000e-01	2.000000e-01	0.330000	0.407611	0.330000	0.280000																										0				12						c.(295-297)Ctc>Ttc		solute carrier family 43 (amino acid system L transporter), member 2							94.0	70.0	78.0					17																	1519929		2203	4300	6503	SO:0001583	missense	124935	0	0					g.chr17:1519929G>A	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.295C>T	chr17.hg19:g.1519929G>A	ENSP00000301335:p.Leu99Phe	0					SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F	p.L99F	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	1	2	3	2.017774	Q8N370	LAT4_HUMAN		3	383	-			B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	0	1	hg19	c.295C>T	CCDS11006.1	0	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699104	0.88830	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.71817	-0.6;-0.6	4.36	4.36	0.52297	4.36	4.36	0.52297	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.91635	0.999;0.95;0.994	T	0.77928	-0.2404	10	0.10377	T	0.69	-22.1218	18.2018	0.89840	0.0:0.0:1.0:0.0	.	99;99;99	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	F	99	ENSP00000301335:L99F;ENSP00000371582:L99F	ENSP00000301335:L99F	L	-	1	0	0	SLC43A2	1466679	1466679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.715000	0.92844	0.655000	0.94253	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	0	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-6.861365	1	0.170000	NM_152346			5	5		199	197	0		1	0		0	0	32	0		9.366919e-01	5.550632e-01	0	0	0	68	0	5	199
PMP22	5376	broad.mit.edu	37	17	15134314	15134314	+	Missense_Mutation	SNP	C	C	T	rs141094419	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15134314C>T	ENST00000395938.2	-	5	597	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PMP22_ENST00000494511.1_Missense_Mutation_p.R75H|PMP22_ENST00000312280.3_Missense_Mutation_p.A135T|PMP22_ENST00000395936.1_3'UTR	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	135					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGGATGTAGGCGAAACCGTAG	0.602													C|||	11	0.00219649	0.0083	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0					ENST00000395938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(403-405)Gcc>Acc		peripheral myelin protein 22		C	THR/ALA,THR/ALA,THR/ALA	36,4370	43.1+/-76.7	0,36,2167	79.0	70.0	73.0		403,403,403	0.6	0.2	17	dbSNP_134	73	0,8600		0,0,4300	yes	missense,missense,missense	PMP22	NM_000304.2,NM_153321.1,NM_153322.1	58,58,58	0,36,6467	TT,TC,CC		0.0,0.8171,0.2768	benign,benign,benign	135/161,135/161,135/161	15134314	36,12970	2203	4300	6503	SO:0001583	missense	5376	107	121412	51				g.chr17:15134314C>T	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.403G>A	chr17.hg19:g.15134314C>T	ENSP00000379269:p.Ala135Thr	0					PMP22_ENST00000494511.1_Missense_Mutation_p.R75H|PMP22_ENST00000312280.3_Missense_Mutation_p.A135T|PMP22_ENST00000395936.1_3'UTR	p.A135T	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	1	2	3	2.017774	Q01453	PMP22_HUMAN		5	597	-			Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	1	0	hg19	c.403G>A	CCDS11168.1	1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	7.414	0.635436	0.14322	0.008171	0.0	ENSG00000109099	ENST00000395938;ENST00000312280	D;D	0.91068	-2.78;-2.78	5.05	0.627	0.17675	5.05	0.627	0.17675	.	0.336619	0.35436	N	0.003211	D	0.82715	0.5097	M	0.72894	2.215	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75983	-0.3125	10	0.56958	D	0.05	-27.4143	4.9521	0.14019	0.2546:0.5323:0.0:0.2132	.	135	Q01453	PMP22_HUMAN	T	135	ENSP00000379269:A135T;ENSP00000308937:A135T	ENSP00000308937:A135T	A	-	1	0	0	PMP22	15075039	15075039	0.083000	0.21467	0.166000	0.22797	0.230000	0.25150	0.469000	0.22067	0.015000	0.14971	-0.214000	0.12660	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.758799	1	0.170000	NM_000304			70	68		330	322	1		1	1		0	0	75	0		1	1	0	38	0	779	0	70	330
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Silent_p.P407P|TEKT3_ENST00000462175.1_5'Flank	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577																																						ENST00000395930.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1219-1221)ccG>ccA		tektin 3							180.0	140.0	153.0					17																	15212016		2203	4300	6503	SO:0001819	synonymous_variant	64518	0	0					g.chr17:15212016C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1221G>A	chr17.hg19:g.15212016C>T		0					TEKT3_ENST00000462175.1_5'Flank|TEKT3_ENST00000338696.2_Silent_p.P407P|RNU6-799P_ENST00000363567.1_RNA	p.P407P	NM_031898.2	NP_114104.1	1	2	3	2.017774	Q9BXF9	TEKT3_HUMAN		8	1407	-			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	1	1	hg19	c.1221G>A	CCDS11169.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_031898			100	97		436	425	1		1			0	0	96	0		1	0	0	0	0	0	0	100	436
TEKT3	64518	broad.mit.edu	37	17	15234932	15234932	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	ENST00000395930.1	-	3	158		c.e3-1		TEKT3_ENST00000338696.2_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3						cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAAATCTCTCCTGTTAAAAAA	0.373																																						ENST00000395930.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e3-1		tektin 3							28.0	28.0	28.0					17																	15234932		2203	4300	6503	SO:0001630	splice_region_variant	64518	0	0					g.chr17:15234932C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.29-1G>A	chr17.hg19:g.15234932C>T		0					TEKT3_ENST00000338696.2_5'UTR		NM_031898.2	NP_114104.1	1	2	3	2.017774	Q9BXF9	TEKT3_HUMAN		3	158	-			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Splice_Site	SNP	ENST00000395930.1	1	1	hg19		CCDS11169.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_031898	Intron		29	29		106	101	0		1			0	0	20	0		1	0	0	0	0	0	0	29	106
CDRT4	284040	broad.mit.edu	37	17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478																																						ENST00000312177.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(391-393)aaC>aaA		CMT1A duplicated region transcript 4							132.0	113.0	119.0					17																	15341153		2203	4300	6503	SO:0001583	missense	284040	0	0					g.chr17:15341153G>T	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.393C>A	chr17.hg19:g.15341153G>T	ENSP00000310031:p.Asn131Lys	0					CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	p.N131K	NM_001204477.1	NP_001191406.1	1	2	3	2.017774	Q8N9R6	CDRT4_HUMAN		4	673	-			A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	1	1	hg19	c.393C>A		1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764707	0.49574	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.33438	1.41	4.98	1.66	0.24008	4.98	1.66	0.24008	.	0.729990	0.12744	N	0.442764	T	0.25754	0.0627	L	0.56769	1.78	0.09310	N	0.999999	B	0.27882	0.192	B	0.25759	0.063	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.0843	3.8536	0.08965	0.2239:0.2043:0.5718:0.0	.	131	Q8N9R6	CDRT4_HUMAN	K	132;131	ENSP00000310031:N131K	ENSP00000310031:N131K	N	-	3	2	2	CDRT4	15281878	15281878	0.391000	0.25221	0.029000	0.17559	0.701000	0.40568	1.313000	0.33585	0.665000	0.31066	0.650000	0.86243	AAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_173622			61	61		228	225	1		1	1		0	0	56	0		1	9.411036e-01	0	3	0	17	0	61	228
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672																																						ENST00000263071.4	1.000000	0.780000	1	8.900000e-01	0.990000	0.961707	0.990000	1.000000																										0				20						c.(1750-1752)Cgg>Tgg		scavenger receptor class F, member 1							59.0	61.0	60.0					17																	1538795		2203	4300	6503	SO:0001583	missense	8578	2	121406	35				g.chr17:1538795G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1750C>T	chr17.hg19:g.1538795G>A	ENSP00000263071:p.Arg584Trp	0					SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	p.R584W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	1	2	3	2.017774	Q14162	SREC_HUMAN		11	1799	-			A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	1	1	hg19	c.1750C>T	CCDS11007.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888416	0.72524	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35789	1.29;1.29	5.21	0.552	0.17230	5.21	0.552	0.17230	.	0.000000	0.38897	N	0.001532	T	0.54303	0.1850	L	0.57536	1.79	0.27762	N	0.943808	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.58457	-0.7633	10	0.87932	D	0	-23.6421	16.2366	0.82380	0.0:0.0:0.2687:0.7313	.	498;584	Q14162-2;Q14162	.;SREC_HUMAN	W	584;498	ENSP00000263071:R584W;ENSP00000323964:R498W	ENSP00000263071:R584W	R	-	1	2	2	SCARF1	1485545	1485545	1.000000	0.71417	0.259000	0.24435	0.979000	0.70002	2.324000	0.43831	-0.099000	0.12263	0.555000	0.69702	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.075755	1	0.170000	NM_003693			57	57		615	606	0		1	0		0	0	110	0		1	6.822730e-01	0	0	0	27	0	57	615
CDRT4	284040	broad.mit.edu	37	17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493																																						ENST00000312177.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(127-129)aTt>aCt		CMT1A duplicated region transcript 4							131.0	115.0	120.0					17																	15341418		2203	4300	6503	SO:0001583	missense	284040	0	0					g.chr17:15341418A>G	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.128T>C	chr17.hg19:g.15341418A>G	ENSP00000310031:p.Ile43Thr	0					CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR	p.I43T	NM_001204477.1	NP_001191406.1	1	2	3	2.017774	Q8N9R6	CDRT4_HUMAN		4	408	-			A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	1	1	hg19	c.128T>C		1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823926	0.32237	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.34472	1.36	5.01	3.93	0.45458	5.01	3.93	0.45458	.	0.119145	0.38058	N	0.001826	T	0.25644	0.0624	L	0.42245	1.32	0.80722	D	1	B	0.30937	0.301	B	0.27715	0.082	T	0.05321	-1.0892	10	0.27082	T	0.32	-19.6174	6.6705	0.23066	0.8924:0.0:0.1076:0.0	.	43	Q8N9R6	CDRT4_HUMAN	T	44;43	ENSP00000310031:I43T	ENSP00000310031:I43T	I	-	2	0	0	CDRT4	15282143	15282143	0.916000	0.31088	0.659000	0.29680	0.106000	0.19336	2.505000	0.45424	0.956000	0.37904	0.482000	0.46254	ATT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_173622			89	88		419	414	1		1	1		0	0	96	0		1	9.866563e-01	0	3	0	31	0	89	419
CDRT1	374286	broad.mit.edu	37	17	15522551	15522551	+	Silent	SNP	G	G	A	rs535994502	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	92										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)		TGCTGAGGTCGATCCGGGACC	0.388													G|||	3	0.000599042	0.0	0.0	5008	,	,		21927	0.0		0.0	False		,,,				2504	0.0031					ENST00000395906.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(274-276)atC>atT		CMT1A duplicated region transcript 1							133.0	136.0	135.0					17																	15522551		2202	4298	6500	SO:0001819	synonymous_variant	374286	40	121412	49				g.chr17:15522551G>A	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.276C>T	chr17.hg19:g.15522551G>A		0					RP11-385D13.1_ENST00000455584.2_Intron	p.I92I	NM_006382.3	NP_006373.2	1	2	3	2.017774	O95170	CDRT1_HUMAN		1	275	-			O43848|O95611	Silent	SNP	ENST00000395906.3	1	1	hg19	c.276C>T	CCDS45619.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-20.000000	1	0.170000	NM_006382			129	127		652	638	1		1	0		0	0	172	0		1	2.774194e-02	0	1	0	1	0	129	652
TRIM16	10626	broad.mit.edu	37	17	15532139	15532139	+	Silent	SNP	G	G	A	rs368962289	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000416464.2_Silent_p.L365L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000336708.7_Silent_p.L495L			O95361	TRI16_HUMAN	tripartite motif containing 16	495	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TATAGACCCCGAGCCTCCGGA	0.522													G|||	12	0.00239617	0.0	0.0	5008	,	,		18290	0.0119		0.0	False		,,,				2504	0.0					ENST00000578237.1	1.000000	0.470000	9.200000e-01	5.800000e-01	0.710000	0.738420	0.710000	0.680000																										0				19						c.(1483-1485)ctC>ctT		tripartite motif containing 16							69.0	71.0	70.0					17																	15532139		2203	4300	6503	SO:0001819	synonymous_variant	10626	47	121412	49				g.chr17:15532139G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1485C>T	chr17.hg19:g.15532139G>A		0					TRIM16_ENST00000577886.1_Silent_p.L279L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000336708.7_Silent_p.L495L|TRIM16_ENST00000579219.1_3'UTR	p.L495L			1	2	3	2.017774	O95361	TRI16_HUMAN		11	2340	-			Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	1	0	hg19	c.1485C>T	CCDS11171.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.075785	1	0.170000	NM_006470			27	27		436	428	0		1	1		0	0	110	0		1	9.999976e-01	0	19	0	315	0	27	436
PRPF8	10594	broad.mit.edu	37	17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		TATGACTTTCGGGGATGGATT	0.448																																						ENST00000572621.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(4849-4851)Cga>Tga		pre-mRNA processing factor 8							178.0	146.0	157.0					17																	1563232		2203	4300	6503	SO:0001587	stop_gained	10594	0	0					g.chr17:1563232G>A	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.4849C>T	chr17.hg19:g.1563232G>A	ENSP00000460348:p.Arg1617*	0					PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*	p.R1617*			1	2	3	2.017774	Q6P2Q9	PRP8_HUMAN		30	5114	-			O14547|O75965	Nonsense_Mutation	SNP	ENST00000572621.1	0	1	hg19	c.4849C>T	CCDS11010.1	1	.	.	.	.	.	.	.	.	.	.	g	45	12.059471	0.99632	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	.	.	.	6.06	3.86	0.44501	6.06	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5008	15.7685	0.78146	0.0:0.0:0.6624:0.3376	.	.	.	.	X	1617;144	.	ENSP00000304350:R1617X	R	-	1	2	2	PRPF8	1509982	1509982	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.556000	0.45862	1.533000	0.49186	0.655000	0.94253	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-2.665731	1	0.170000				78	78		358	347	1		1	1		0	0	88	0		1	1	0	9	0	259	0	78	358
PRPF8	10594	broad.mit.edu	37	17	1563837	1563837	+	Silent	SNP	C	C	T	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1558	Linker.				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)			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)		TGAAGATACCCGTCAGGTCTA	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22992	0.0		0.0	False		,,,				2504	0.0					ENST00000572621.1	1.000000	0.220000	4.500000e-01	2.700000e-01	0.340000	0.413892	0.340000	0.330000																										0				77						c.(4672-4674)acG>acA		pre-mRNA processing factor 8		C		6,4400	11.4+/-27.6	0,6,2197	141.0	138.0	139.0		4674	-8.8	0.9	17	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		1558/2336	1563837	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594	21	121412	47				g.chr17:1563837C>T	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.4674G>A	chr17.hg19:g.1563837C>T		0					PRPF8_ENST00000304992.6_Silent_p.T1558T	p.T1558T			1	2	3	2.017774	Q6P2Q9	PRP8_HUMAN		29	4939	-			O14547|O75965	Silent	SNP	ENST00000572621.1	1	1	hg19	c.4674G>A	CCDS11010.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	1		2	2	2	0		0	0	195		195	195	1	2.060000	-1.914803	0	0.170000				25	25		863	848	0		1	1		0	0	195	0		9.999998e-01	9.982054e-01	0	20	0	316	0	25	863
PRPF8	10594	broad.mit.edu	37	17	1576444	1576444	+	Silent	SNP	C	C	T	rs201906457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1576444C>T	ENST00000572621.1	-	23	3970	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	PRPF8_ENST00000304992.6_Silent_p.E1235E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		GCTGCATTGACTCATCGTCCA	0.542																																						ENST00000572621.1	1.000000	0.250000	6.600000e-01	3.400000e-01	0.460000	0.520130	0.460000	0.430000																										0				77						c.(3703-3705)gaG>gaA		pre-mRNA processing factor 8							163.0	124.0	137.0					17																	1576444		2203	4300	6503	SO:0001819	synonymous_variant	10594	0	0					g.chr17:1576444C>T	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.3705G>A	chr17.hg19:g.1576444C>T		0					PRPF8_ENST00000304992.6_Silent_p.E1235E	p.E1235E			1	2	3	2.017774	Q6P2Q9	PRP8_HUMAN		23	3970	-			O14547|O75965	Silent	SNP	ENST00000572621.1	1	1	hg19	c.3705G>A	CCDS11010.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-13.606670	1	0.170000				13	13		339	328	0		1	1		0	0	62	0		9.994531e-01	9.934740e-01	0	7	0	214	0	13	339
PRPF8	10594	broad.mit.edu	37	17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	165					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)			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)		AGGGGGAAAACGCATCCTCTT	0.502																																						ENST00000572621.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(493-495)cGt>cAt		pre-mRNA processing factor 8							89.0	88.0	88.0					17																	1585273		2203	4300	6503	SO:0001583	missense	10594	0	0					g.chr17:1585273C>T	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.494G>A	chr17.hg19:g.1585273C>T	ENSP00000460348:p.Arg165His	0					PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H	p.R165H			1	2	3	2.017774	Q6P2Q9	PRP8_HUMAN		4	759	-			O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	1	1	hg19	c.494G>A	CCDS11010.1	1	.	.	.	.	.	.	.	.	.	.	c	32	5.154767	0.94686	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.47	5.47	0.80525	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82096	-0.0626	10	0.72032	D	0.01	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	165	Q6P2Q9	PRP8_HUMAN	H	165	ENSP00000304350:R165H	ENSP00000304350:R165H	R	-	2	0	0	PRPF8	1532023	1532023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000				75	71		297	285	1		1	1		0	0	83	0		1	1	0	77	0	131	0	75	297
ZNF286A	57335	broad.mit.edu	37	17	15620048	15620048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	ENST00000464847.2	+	5	1563	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q|ZNF286A_ENST00000585171.1_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R337Q(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)		GGTTTTAATCGAAGTACACAT	0.378																																						ENST00000464847.2	1.000000	0.470000	1	6.200000e-01	0.820000	0.812444	0.820000	1.000000																										1	Substitution - Missense(1)	p.R337Q(1)	endometrium(1)	24						c.(1009-1011)cGa>cAa		zinc finger protein 286A							59.0	52.0	54.0					17																	15620048		2202	4297	6499	SO:0001583	missense	57335	2	121406	33				g.chr17:15620048G>A	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.1010G>A	chr17.hg19:g.15620048G>A	ENSP00000464218:p.Arg337Gln	0					ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q	p.R337Q			1	2	3	2.017774	Q9HBT8	Z286A_HUMAN		5	1563	+			B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	0	1	hg19	c.1010G>A	CCDS11172.1	0	.	.	.	.	.	.	.	.	.	.	g	5.552	0.286729	0.10513	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07444	3.19;3.19	4.2	4.2	0.49525	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	0.33290	N	0.005063	T	0.03053	0.0090	N	0.11106	0.095	0.09310	N	1	B	0.33826	0.427	B	0.24006	0.05	T	0.38735	-0.9647	10	0.02654	T	1	-8.8043	9.6418	0.39844	0.0:0.0:0.7918:0.2081	.	337	Q9HBT8	Z286A_HUMAN	Q	337;327;337	ENSP00000397163:R337Q;ENSP00000408168:R327Q	ENSP00000435872:R337Q	R	+	2	0	0	ZNF286A	15560773	15560773	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.266000	0.18534	2.335000	0.79485	0.650000	0.86243	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	1	0	1		2	2	2	0		0	0	40		40	55	1	2.060000	-5.851547	1	0.170000	NM_020652			15	13		213	194	0		1	0		0	0	40	0		9.997697e-01	6.229696e-02	0	0	0	6	0	15	213
NCOR1	9611	broad.mit.edu	37	17	15938174	15938174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15938174G>A	ENST00000268712.3	-	45	7297	c.7040C>T	c.(7039-7041)aCg>aTg	p.T2347M	NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M|NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2347	Interaction with C1D. {ECO:0000250}.				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)			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)		GGGCCGTTCCGTTCCTAAGTA	0.502																																						ENST00000268712.3	1.000000	0.180000	4.600000e-01	2.500000e-01	0.330000	0.400906	0.330000	0.310000																										0				107						c.(7039-7041)aCg>aTg		nuclear receptor corepressor 1							125.0	119.0	121.0					17																	15938174		2203	4300	6503	SO:0001583	missense	9611	3	121412	36				g.chr17:15938174G>A	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.7040C>T	chr17.hg19:g.15938174G>A	ENSP00000268712:p.Thr2347Met	0					NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M	p.T2347M	NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		45	7297	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	0	1	hg19	c.7040C>T	CCDS11175.1	0	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886070	0.72410	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.48522	0.81;1.39;0.81	5.35	4.36	0.52297	5.35	4.36	0.52297	.	0.431594	0.29572	N	0.011776	T	0.63534	0.2519	L	0.54323	1.7	0.31714	N	0.639108	D;B;D;P;P	0.76494	0.961;0.298;0.999;0.914;0.951	P;B;D;P;P	0.73380	0.518;0.09;0.98;0.595;0.727	T	0.71513	-0.4570	10	0.87932	D	0	-0.5725	15.0177	0.71600	0.0:0.1555:0.8444:0.0	.	2250;2347;2244;866;360	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	M	2347;2244;2250;931	ENSP00000268712:T2347M;ENSP00000379192:T2244M;ENSP00000379198:T931M	ENSP00000268712:T2347M	T	-	2	0	0	NCOR1	15878899	15878899	1.000000	0.71417	0.046000	0.18839	0.962000	0.63368	4.224000	0.58593	1.362000	0.46000	0.650000	0.86243	ACG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	0	1		24	10	2	1		1	1	72		72	72	1	2.060000	-2.932323	1	0.170000	NM_006311			15	15		553	545	0		0	1		1	0	72	0		8.750127e-02	5.195092e-02	0	14	0	165	0	15	553
NCOR1	9611	broad.mit.edu	37	17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1007	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)			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)		GCAGGCTGAAGGACTTTTAAA	0.428																																						ENST00000268712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3019-3021)Ctt>Att		nuclear receptor corepressor 1							62.0	63.0	63.0					17																	15989754		2203	4300	6503	SO:0001583	missense	9611	0	0					g.chr17:15989754G>T	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.3019C>A	chr17.hg19:g.15989754G>T	ENSP00000268712:p.Leu1007Ile	0					NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	p.L1007I	NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		23	3276	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	1	1	hg19	c.3019C>A	CCDS11175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162501|3.162501	0.57368|0.57368	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.85171|.	-1.95;-1.95|.	5.9|5.9	5.9|5.9	0.94986|0.94986	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55940|0.55940	0.1952|0.1952	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.629;0.745|.	D;B;P|.	0.72625|.	0.978;0.212;0.504|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.11485|.	T|.	0.65|.	-7.6952|-7.6952	17.5022|17.5022	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	914;1007;1023|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	I|H	1007;1023;914|78	ENSP00000268712:L1007I;ENSP00000379192:L1023I|.	ENSP00000268712:L1007I|.	L|P	-|-	1|2	0|0	0|0	NCOR1|NCOR1	15930479|15930479	15930479|15930479	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.833000|0.833000	0.47200|0.47200	5.911000|5.911000	0.69939|0.69939	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	CTT|CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-4.116279	1	0.170000	NM_006311			52	51		175	169	1		1	1		0	0	48	0		1	9.999993e-01	0	31	0	45	0	52	175
NCOR1	9611	broad.mit.edu	37	17	15989758	15989758	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						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)			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)		GCTGAAGGACTTTTAAAAGGA	0.418																																						ENST00000268712.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999889	0.990000	1.000000																										0				107						c.e23-2		nuclear receptor corepressor 1							58.0	59.0	59.0					17																	15989758		2203	4300	6503	SO:0001630	splice_region_variant	9611	0	0					g.chr17:15989758T>G	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.3017-2A>C	chr17.hg19:g.15989758T>G		0					NCOR1_ENST00000395851.1_Splice_Site		NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		23	3274	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	ENST00000268712.3	1	1	hg19		CCDS11175.1	1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654394	0.67472	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000436068	.	.	.	5.9	5.9	0.94986	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1246	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NCOR1	15930483	15930483	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.235000	0.72332	2.272000	0.75746	0.524000	0.50904	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-15.565780	1	0.170000	NM_006311	Intron		30	30		178	170	0		1	0		0	0	44	0		1	6.600613e-01	0	0	0	15	0	30	178
NCOR1	9611	broad.mit.edu	37	17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	581					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)			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)		CGGCCCTTACGGCGGCCCTGA	0.597																																						ENST00000268712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1741-1743)Cgt>Tgt		nuclear receptor corepressor 1							76.0	80.0	79.0					17																	16024477		2203	4300	6503	SO:0001583	missense	9611	0	0					g.chr17:16024477G>A	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.1741C>T	chr17.hg19:g.16024477G>A	ENSP00000268712:p.Arg581Cys	0					NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C	p.R581C	NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		16	1998	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	1	1	hg19	c.1741C>T	CCDS11175.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524587	0.85600	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.33865	1.39;1.39;1.39	5.7	2.48	0.30137	5.7	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.87578	0.863;0.556;0.998	T	0.59322	-0.7476	10	0.87932	D	0	-9.9335	14.0288	0.64601	0.0:0.0:0.5936:0.4064	.	472;581;581	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	C	581;581;472;472	ENSP00000268712:R581C;ENSP00000379192:R581C;ENSP00000379189:R472C	ENSP00000268712:R581C	R	-	1	0	0	NCOR1	15965202	15965202	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.895000	0.56258	0.268000	0.21939	0.655000	0.94253	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1		2	2	2	0		0	0	116		116	106	1	2.060000	-2.657411	1	0.170000	NM_006311			139	136		659	633	1		1	1		0	0	116	0		1	9.999998e-01	0	7	0	97	0	139	659
NCOR1	9611	broad.mit.edu	37	17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	319	Interaction with ZBTB33 and HEXIM1.				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)			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)		CACTTTTTTCTCCCATGCCTC	0.343																																						ENST00000268712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(955-957)gAg>gGg		nuclear receptor corepressor 1							113.0	106.0	108.0					17																	16049816		2203	4300	6503	SO:0001583	missense	9611	0	0					g.chr17:16049816T>C	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.956A>G	chr17.hg19:g.16049816T>C	ENSP00000268712:p.Glu319Gly	0					NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G|NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G	p.E319G	NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		10	1213	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	1	1	hg19	c.956A>G	CCDS11175.1	1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751672	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.44542	1.39	0.80722	D	1	D;D;D;P;D;D	0.89917	0.974;0.974;0.974;0.92;0.978;1.0	P;P;P;P;P;D	0.85130	0.776;0.776;0.776;0.573;0.867;0.997	D	0.87494	0.2429	10	0.87932	D	0	-11.7257	15.2981	0.73925	0.0:0.0:0.0:1.0	.	328;319;319;210;319;319	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	G	319;319;210;328;210;319;328	ENSP00000268712:E319G;ENSP00000379192:E319G;ENSP00000379189:E210G;ENSP00000407998:E319G;ENSP00000387727:E328G	ENSP00000268712:E319G	E	-	2	0	0	NCOR1	15990541	15990541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.270000	0.75569	0.459000	0.35465	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_006311			66	65		251	247	1		1	1		0	0	40	0		1	1	0	6	0	127	0	66	251
NCOR1	9611	broad.mit.edu	37	17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A	rs376695361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	107	Interaction with ZBTB33 and HEXIM1.				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)			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)		GACGTGGTCGCTTCGATTCCA	0.483																																						ENST00000268712.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				107						c.(319-321)aaG>aaT		nuclear receptor corepressor 1							92.0	78.0	83.0					17																	16075231		2203	4300	6503	SO:0001583	missense	9611	0	0					g.chr17:16075231C>A	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.321G>T	chr17.hg19:g.16075231C>A	ENSP00000268712:p.Lys107Asn	0					NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N	p.K107N	NM_006311.3	NP_006302.2	1	2	3	2.017774	O75376	NCOR1_HUMAN		4	578	-			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	1	1	hg19	c.321G>T	CCDS11175.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501099	0.26861	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.57436	0.4;1.06	5.81	1.69	0.24217	5.81	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.995;0.996	T	0.65594	-0.6130	10	0.87932	D	0	-15.0086	8.382	0.32477	0.0:0.6346:0.0:0.3654	.	107;107;107;107;107;107	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	107	ENSP00000268712:K107N;ENSP00000379192:K107N	ENSP00000268712:K107N	K	-	3	2	2	NCOR1	16015956	16015956	0.999000	0.42202	0.342000	0.25602	0.745000	0.42441	0.576000	0.23744	0.384000	0.24942	-0.137000	0.14449	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_006311			33	31		159	156	1		1	1		0	0	53	0		1	9.999779e-01	0	29	0	55	0	33	159
PIGL	9487	broad.mit.edu	37	17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000225609.5	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*|PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000395844.4_Nonsense_Mutation_p.W16*|NCOR1_ENST00000268712.3_5'Flank	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	16					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)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612																																						ENST00000225609.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(46-48)tgG>tgA		phosphatidylinositol glycan anchor biosynthesis, class L							114.0	98.0	104.0					17																	16120588		2203	4300	6503	SO:0001587	stop_gained	9487	1	121412	28				g.chr17:16120588G>A	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.48G>A	chr17.hg19:g.16120588G>A	ENSP00000225609:p.Trp16*	0					PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000395844.4_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*	p.W16*	NM_004278.3	NP_004269.1	1	2	3	2.017774	Q9Y2B2	PIGL_HUMAN		1	65	+			A8KA67|B4DYN4	Nonsense_Mutation	SNP	ENST00000225609.5	0	1	hg19	c.48G>A	CCDS11176.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270030	0.59540	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.22	1.6	0.23607	5.22	1.6	0.23607	.	0.885835	0.09977	N	0.731447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.0087	8.2005	0.31421	0.0:0.3186:0.5178:0.1636	.	.	.	.	X	16	.	ENSP00000225609:W16X	W	+	3	0	0	PIGL	16061313	16061313	0.237000	0.23815	0.030000	0.17652	0.199000	0.23934	1.056000	0.30480	1.146000	0.42352	0.655000	0.94253	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-2.826746	1	0.170000				51	50		265	257	0		1	1		0	0	70	0		1	9.936563e-01	0	10	0	33	0	51	265
PIGL	9487	broad.mit.edu	37	17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T	rs373994072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000225609.5	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F|PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000395844.4_Missense_Mutation_p.S24F|NCOR1_ENST00000268712.3_5'Flank	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	24					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)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587																																						ENST00000225609.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(70-72)tCc>tTc		phosphatidylinositol glycan anchor biosynthesis, class L							109.0	98.0	102.0					17																	16120611		2203	4300	6503	SO:0001583	missense	9487	0	0					g.chr17:16120611C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.71C>T	chr17.hg19:g.16120611C>T	ENSP00000225609:p.Ser24Phe	0					PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000395844.4_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F	p.S24F	NM_004278.3	NP_004269.1	1	2	3	2.017774	Q9Y2B2	PIGL_HUMAN		1	88	+			A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	1	1	hg19	c.71C>T	CCDS11176.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667515	0.29604	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78364	-1.1;-1.17	5.49	-1.33	0.09172	5.49	-1.33	0.09172	.	1.039030	0.07536	N	0.913102	T	0.60612	0.2282	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.09843	T	0.71	-0.3025	5.2966	0.15756	0.0:0.4091:0.1566:0.4343	.	24;24	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	F	24	ENSP00000225609:S24F;ENSP00000379185:S24F	ENSP00000225609:S24F	S	+	2	0	0	PIGL	16061336	16061336	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.094000	0.11094	0.016000	0.14998	0.655000	0.94253	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	0		2	2	2	0		0	0	75		75	74	1	2.060000	-3.868133	1	0.170000				69	68		257	255	1		1	1		0	0	75	0		1	9.926854e-01	0	10	0	21	0	69	257
PIGL	9487	broad.mit.edu	37	17	16216893	16216893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000225609.5	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000395844.4_Silent_p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	153					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)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488																																						ENST00000225609.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				11						c.(457-459)ggC>ggT		phosphatidylinositol glycan anchor biosynthesis, class L							238.0	204.0	215.0					17																	16216893		2203	4300	6503	SO:0001819	synonymous_variant	9487	0	0					g.chr17:16216893C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.459C>T	chr17.hg19:g.16216893C>T		0					PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000395844.4_Silent_p.G153G|PIGL_ENST00000581006.1_Intron	p.G153G	NM_004278.3	NP_004269.1	1	2	3	2.017774	Q9Y2B2	PIGL_HUMAN		4	476	+			A8KA67|B4DYN4	Silent	SNP	ENST00000225609.5	1	1	hg19	c.459C>T	CCDS11176.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-20.000000	1	0.170000				73	71		477	462	1		1	1		0	0	108	0		1	9.278489e-01	0	9	0	22	0	73	477
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	rs373733043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	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)			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)		CCTCAACTACCGAAAGGGAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19562	0.0		0.0	False		,,,				2504	0.001					ENST00000338560.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999058	0.990000	1.000000																										0				28						c.(181-183)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	32.0		181	-2.2	0.0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained	51393	2	121410	27				g.chr17:16321163C>T	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.181C>T	chr17.hg19:g.16321163C>T	ENSP00000342222:p.Arg61*	0					RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	p.R61*	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		2	580	+			A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	0	1	hg19	c.181C>T	CCDS32576.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	2	TRPV2	16261888	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_016113			24	23		157	154	1		1	0		0	0	41	0		9.999997e-01	9.997450e-01	0	0	0	90	0	24	157
TRPV2	51393	broad.mit.edu	37	17	16330045	16330045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330045C>T	ENST00000338560.7	+	7	1504	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	369	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)			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)		GCACCGACACCGAATGGTCGT	0.517																																						ENST00000338560.7	1.000000	0.220000	6.400000e-01	3.100000e-01	0.440000	0.496830	0.440000	0.400000																										0				28						c.(1105-1107)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2							78.0	67.0	70.0					17																	16330045		2203	4300	6503	SO:0001587	stop_gained	51393	0	0					g.chr17:16330045C>T	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.1105C>T	chr17.hg19:g.16330045C>T	ENSP00000342222:p.Arg369*	0					TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	p.R369*	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		7	1504	+			A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	0	1	hg19	c.1105C>T	CCDS32576.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.196707	0.99098	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.29	3.17	0.36434	5.29	3.17	0.36434	.	0.277108	0.40144	N	0.001171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-42.5873	11.3436	0.49548	0.5677:0.4323:0.0:0.0	.	.	.	.	X	369	.	ENSP00000342222:R369X	R	+	1	2	2	TRPV2	16270770	16270770	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.131000	0.31406	1.251000	0.43983	-0.225000	0.12378	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	0	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-2.725170	1	0.170000	NM_016113			11	10		308	295	0		1	0		0	0	71	0		9.979583e-01	9.076694e-01	0	0	0	119	0	11	308
TRPV2	51393	broad.mit.edu	37	17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	407					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)			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)		ATCTTCACCGCTGTTGCCTAC	0.532																																						ENST00000338560.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1219-1221)gCt>gTt		transient receptor potential cation channel, subfamily V, member 2							111.0	85.0	94.0					17																	16330160		2203	4300	6503	SO:0001583	missense	51393	0	0					g.chr17:16330160C>T	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.1220C>T	chr17.hg19:g.16330160C>T	ENSP00000342222:p.Ala407Val	0					TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	p.A407V	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		7	1619	+			A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	1	1	hg19	c.1220C>T	CCDS32576.1	1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283833	0.23392	.	.	ENSG00000187688	ENST00000338560	D	0.88431	-2.38	5.78	4.58	0.56647	5.78	4.58	0.56647	.	0.461480	0.25964	N	0.027178	T	0.76485	0.3994	N	0.12831	0.26	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.60667	-0.7218	10	0.20046	T	0.44	-28.5902	8.3753	0.32440	0.0:0.7901:0.0:0.2099	.	407	Q9Y5S1	TRPV2_HUMAN	V	407	ENSP00000342222:A407V	ENSP00000342222:A407V	A	+	2	0	0	TRPV2	16270885	16270885	0.000000	0.05858	0.001000	0.08648	0.582000	0.36321	0.516000	0.22817	1.105000	0.41606	0.557000	0.71058	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_016113			60	59		268	260	1		1	0		0	0	51	0		1	9.999999e-01	0	0	0	110	0	60	268
TRPV2	51393	broad.mit.edu	37	17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A	rs372855524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000338560.7	+	12	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	564					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)			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)		TTGGCGCCCCGAAGCTCCTAC	0.647																																						ENST00000338560.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1690-1692)Gaa>Aaa		transient receptor potential cation channel, subfamily V, member 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42.0	42.0	42.0		1690	-2.9	0.0	17		42	0,8600		0,0,4300	no	missense	TRPV2	NM_016113.4	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	564/765	16335315	1,13005	2203	4300	6503	SO:0001583	missense	51393	0	0					g.chr17:16335315G>A	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.1690G>A	chr17.hg19:g.16335315G>A	ENSP00000342222:p.Glu564Lys	0					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	p.E564K	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		12	2089	+			A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	1	1	hg19	c.1690G>A	CCDS32576.1	1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597432	0.28445	2.27E-4	0.0	ENSG00000187688	ENST00000338560	D	0.89552	-2.53	4.55	-2.93	0.05598	4.55	-2.93	0.05598	Ion transport (1);	4.637680	0.00397	N	0.000041	T	0.72676	0.3490	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68762	-0.5323	10	0.06891	T	0.86	-31.6603	5.3118	0.15835	0.445:0.1439:0.4112:0.0	.	564	Q9Y5S1	TRPV2_HUMAN	K	564	ENSP00000342222:E564K	ENSP00000342222:E564K	E	+	1	0	0	TRPV2	16276040	16276040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.404000	0.01045	-0.940000	0.03705	0.449000	0.29647	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_016113			59	57		246	238	1		1	0		0	0	50	0		1	1	0	0	0	127	0	59	246
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	rs543529432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					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)			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)		GATGCTGACCGTTGGCACTAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000338560.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2068-2070)Gtt>Att		transient receptor potential cation channel, subfamily V, member 2							140.0	121.0	127.0					17																	16336966		2203	4300	6503	SO:0001583	missense	51393	1	121412	30				g.chr17:16336966G>A	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.2068G>A	chr17.hg19:g.16336966G>A	ENSP00000342222:p.Val690Ile	0					TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	p.V690I	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		13	2467	+			A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	1	1	hg19	c.2068G>A	CCDS32576.1	1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	0	TRPV2	16277691	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_016113			86	86		416	411	1		1	0		0	0	85	0		1	1	0	0	0	141	0	86	416
TRPV2	51393	broad.mit.edu	37	17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	733					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)			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)		TTTACAGGAACTCTCGAGAAC	0.552																																						ENST00000338560.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2197-2199)aCt>aTt		transient receptor potential cation channel, subfamily V, member 2							186.0	160.0	169.0					17																	16340106		2203	4300	6503	SO:0001583	missense	51393	0	0					g.chr17:16340106C>T	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.2198C>T	chr17.hg19:g.16340106C>T	ENSP00000342222:p.Thr733Ile	0					C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA	p.T733I	NM_016113.4	NP_057197.2	1	2	3	2.017774	Q9Y5S1	TRPV2_HUMAN		15	2597	+			A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	1	1	hg19	c.2198C>T	CCDS32576.1	1	.	.	.	.	.	.	.	.	.	.	C	5.905	0.350976	0.11182	.	.	ENSG00000187688	ENST00000338560	D	0.88201	-2.35	3.73	0.454	0.16644	3.73	0.454	0.16644	.	1.775310	0.03096	N	0.160447	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.61888	-0.6970	10	0.22109	T	0.4	-23.241	1.9786	0.03421	0.2164:0.4745:0.1926:0.1165	.	733	Q9Y5S1	TRPV2_HUMAN	I	733	ENSP00000342222:T733I	ENSP00000342222:T733I	T	+	2	0	0	TRPV2	16280831	16280831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	0.141000	0.18875	0.561000	0.74099	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_016113			96	94		469	456	1		1	0		0	0	136	0		1	1	0	0	0	120	0	96	469
ZNF287	57336	broad.mit.edu	37	17	16455434	16455434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	667					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)			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)		ATTTATAGGGTTTTTCTCCAG	0.348																																						ENST00000395824.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2020-2022)aaA>aaG		zinc finger protein 287							88.0	87.0	87.0					17																	16455434		2203	4300	6503	SO:0001819	synonymous_variant	57336	0	0					g.chr17:16455434T>C	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.2022A>G	chr17.hg19:g.16455434T>C		0					ZNF287_ENST00000395825.3_Silent_p.K674K	p.K674K			1	2	3	2.017774	Q9HBT7	ZN287_HUMAN		6	2639	-			Q6IAG1	Silent	SNP	ENST00000395824.1	1	1	hg19	c.2022A>G	CCDS11179.2	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				76	75		241	235	1		1	0		0	0	69	0		1	3.475369e-01	0	0	0	5	0	76	241
SERPINF2	5345	broad.mit.edu	37	17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	276					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TACCCGCTGCGCTGGTTCTTG	0.622																																						ENST00000324015.3	1.000000	0.480000	8.600000e-01	5.700000e-01	0.690000	0.717519	0.690000	0.670000																										0				12						c.(826-828)cGc>cAc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Ocriplasmin(DB08888)						92.0	89.0	90.0					17																	1652003		2203	4300	6503	SO:0001583	missense	5345	1	121412	32				g.chr17:1652003G>A	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.827G>A	chr17.hg19:g.1652003G>A	ENSP00000321853:p.Arg276His	0					SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	p.R276H	NM_000934.3	NP_000925.2	1	2	3	2.017774	P08697	A2AP_HUMAN		8	904	+			B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	1	1	hg19	c.827G>A	CCDS11011.1	0	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.95	2.97	0.34412	4.95	2.97	0.34412	Serpin domain (3);	0.131813	0.64402	N	0.000003	T	0.78104	0.4231	L	0.49778	1.585	0.33688	D	0.612924	B;B	0.29378	0.243;0.097	B;B	0.18263	0.021;0.009	T	0.76686	-0.2868	9	.	.	.	.	11.6226	0.51126	0.1465:0.0:0.8535:0.0	.	212;276	B4E1B7;P08697	.;A2AP_HUMAN	H	276;212;160;276	ENSP00000321853:R276H;ENSP00000403877:R212H;ENSP00000402056:R160H;ENSP00000371493:R276H	.	R	+	2	0	0	SERPINF2	1598753	1598753	1.000000	0.71417	0.947000	0.38551	0.101000	0.19017	4.817000	0.62650	0.617000	0.30160	-0.244000	0.11960	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-6.540859	1	0.170000	NM_000934			36	35		600	591	0		1	0		0	0	117	0		1	4.376961e-02	0	0	0	6	0	36	600
ZNF287	57336	broad.mit.edu	37	17	16456289	16456289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	382					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)			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)		CTTTGGCATGGGTACTTTGGT	0.398																																						ENST00000395824.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1165-1167)acC>acT		zinc finger protein 287							167.0	156.0	160.0					17																	16456289		2203	4300	6503	SO:0001819	synonymous_variant	57336	0	0					g.chr17:16456289G>A	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.1167C>T	chr17.hg19:g.16456289G>A		0					ZNF287_ENST00000395825.3_Silent_p.T389T	p.T389T			1	2	3	2.017774	Q9HBT7	ZN287_HUMAN		6	1784	-			Q6IAG1	Silent	SNP	ENST00000395824.1	1	1	hg19	c.1167C>T	CCDS11179.2	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.119046	1	0.170000				161	160		650	638	1		1	1		0	0	113	0		1	5.604606e-01	0	3	0	6	0	161	650
SERPINF2	5345	broad.mit.edu	37	17	1657648	1657648	+	Silent	SNP	C	C	T	rs201846794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	432					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCGTGGGCAGCGTGAGGAACC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15104	0.001		0.0	False		,,,				2504	0.0					ENST00000324015.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1294-1296)agC>agT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Ocriplasmin(DB08888)						130.0	114.0	119.0					17																	1657648		2203	4300	6503	SO:0001819	synonymous_variant	5345	5	121412	39				g.chr17:1657648C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1296C>T	chr17.hg19:g.1657648C>T		0					SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	p.S432S	NM_000934.3	NP_000925.2	1	2	3	2.017774	P08697	A2AP_HUMAN		10	1373	+			B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	1	1	hg19	c.1296C>T	CCDS11011.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	1	0	1		2	2	2	0		0	0	145		145	142	1	2.060000	-20.000000	1	0.170000	NM_000934			130	126		627	620	1		1	1		0	0	145	0		1	9.733326e-01	0	5	0	25	0	130	627
ZNF624	57547	broad.mit.edu	37	17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	112	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)			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)		GTCACCCATGGTCCTTTCCCA	0.413																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7	1.000000	0.740000	1	9.400000e-01	0.990000	0.972726	0.990000	1.000000																										0				26						c.(334-336)Cca>Tca		zinc finger protein 624							93.0	83.0	86.0					17																	16537218		2203	4300	6503	SO:0001583	missense	57547	0	0					g.chr17:16537218G>A	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.334C>T	chr17.hg19:g.16537218G>A	ENSP00000310472:p.Pro112Ser	0					ZNF624_ENST00000579983.1_5'UTR	p.P112S	NM_020787.3	NP_065838.2	1	2	3	2.017774	Q9P2J8	ZN624_HUMAN		5	425	-			Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	1	1	hg19	c.334C>T	CCDS11180.1	1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194827	0.22037	.	.	ENSG00000197566	ENST00000311331	T	0.08282	3.11	3.63	2.65	0.31530	3.63	2.65	0.31530	Krueppel-associated box (2);	.	.	.	.	T	0.20780	0.0500	L	0.59967	1.855	0.23673	N	0.997146	D	0.89917	1.0	D	0.79108	0.992	T	0.03695	-1.1012	9	0.36615	T	0.2	.	8.7679	0.34713	0.118:0.0:0.882:0.0	.	112	Q9P2J8	ZN624_HUMAN	S	112	ENSP00000310472:P112S	ENSP00000310472:P112S	P	-	1	0	0	ZNF624	16477943	16477943	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	3.196000	0.51020	2.046000	0.60703	0.591000	0.81541	CCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-8.953459	1	0.170000	XM_047617			19	18		176	174	0		1	0		0	0	58	0		9.999919e-01	1.935264e-01	0	0	0	8	0	19	176
SMYD4	114826	broad.mit.edu	37	17	1686706	1686706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	695							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622																																						ENST00000305513.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2083-2085)caC>caT		SET and MYND domain containing 4							36.0	34.0	35.0					17																	1686706		2203	4300	6503	SO:0001819	synonymous_variant	114826	3	121404	30				g.chr17:1686706G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2085C>T	chr17.hg19:g.1686706G>A		0						p.H695H	NM_052928.2	NP_443160.2	1	2	3	2.017774	Q8IYR2	SMYD4_HUMAN		9	2252	-			Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	1	1	hg19	c.2085C>T	CCDS11013.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	XM_056082			37	37		150	148	1		1	1		0	0	29	0		1	9.527753e-01	0	3	0	20	0	37	150
TNFRSF13B	23495	broad.mit.edu	37	17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000261652.2	-	4	600	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	196					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647									IgA Deficiency, Selective																													ENST00000261652.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(586-588)caG>caT		tumor necrosis factor receptor superfamily, member 13B							88.0	92.0	91.0					17																	16843683		2203	4300	6503	SO:0001583	missense	23495	0	0		IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	g.chr17:16843683C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.588G>T	chr17.hg19:g.16843683C>A	ENSP00000261652:p.Gln196His	0					TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000579315.1_Intron	p.Q196H	NM_012452.2	NP_036584.1	1	2	3	2.017774	O14836	TR13B_HUMAN		4	600	-			B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	1	1	hg19	c.588G>T	CCDS11181.1	1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007064	0.19199	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94092	-3.35;-3.33	3.43	3.43	0.39272	3.43	3.43	0.39272	.	0.131984	0.34531	N	0.003899	D	0.94584	0.8255	M	0.66939	2.045	0.30740	N	0.746256	D;D	0.71674	0.998;0.997	P;P	0.61477	0.889;0.778	D	0.91783	0.5437	10	0.40728	T	0.16	-6.7321	10.6958	0.45899	0.0:1.0:0.0:0.0	rs56248318	150;196	O14836-2;O14836	.;TR13B_HUMAN	H	150;196	ENSP00000413453:Q150H;ENSP00000261652:Q196H	ENSP00000261652:Q196H	Q	-	3	2	2	TNFRSF13B	16784408	16784408	0.931000	0.31567	0.330000	0.25442	0.016000	0.09150	1.717000	0.37991	1.628000	0.50416	0.558000	0.71614	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000				100	99		495	487	1		1	0		0	0	84	0		1	1.360242e-01	0	0	0	4	0	100	495
FLCN	201163	broad.mit.edu	37	17	17122372	17122372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	341					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|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 cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1021-1023)cgG>cgA		folliculin							37.0	48.0	44.0					17																	17122372		2202	4300	6502	SO:0001819	synonymous_variant	201163	0	0		Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	g.chr17:17122372C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1023G>A	chr17.hg19:g.17122372C>T		0					RP11-45M22.4_ENST00000427497.3_Intron	p.R341R	NM_144997.5	NP_659434.2	1	2	3	2.017774	Q8NFG4	FLCN_HUMAN		9	1477	-			A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	1	1	hg19	c.1023G>A	CCDS32579.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	1		22	2	2	0		0	1	99		99	98	1	2.060000	-4.284916	1	0.170000	NM_144606			150	143		521	514	0		1	1		0	0	99	0		1	1	0	7	0	91	0	150	521
FLCN	201163	broad.mit.edu	37	17	17124912	17124912	+	Silent	SNP	G	G	A	rs372342796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Silent_p.T270T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	270					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|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 cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.0		0.0	False		,,,				2504	0.001					ENST00000285071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(808-810)acC>acT		folliculin		G	,	0,4406		0,0,2203	29.0	28.0	28.0		810,810	-12.2	0.0	17		28	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLCN	NM_144606.5,NM_144997.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	270/343,270/580	17124912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201163	2	121398	34	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	g.chr17:17124912G>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.810C>T	chr17.hg19:g.17124912G>A		0					FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	p.T270T	NM_144997.5	NP_659434.2	1	2	3	2.017774	Q8NFG4	FLCN_HUMAN		8	1264	-			A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	1	1	hg19	c.810C>T	CCDS32579.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.589889	1	0.170000	NM_144606			55	54		225	221	1		1	1		0	0	49	0		1	9.999996e-01	0	20	0	73	0	55	225
FLCN	201163	broad.mit.edu	37	17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T	rs398124537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H|FLCN_ENST00000389169.5_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	17					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|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 cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(49-51)cGc>cAc		folliculin							60.0	44.0	49.0					17																	17131402		2203	4300	6503	SO:0001583	missense	201163	0	0		Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	g.chr17:17131402C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.50G>A	chr17.hg19:g.17131402C>T	ENSP00000285071:p.Arg17His	0					FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	p.R17H	NM_144997.5	NP_659434.2	1	2	3	2.017774	Q8NFG4	FLCN_HUMAN		4	504	-			A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	1	1	hg19	c.50G>A	CCDS32579.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426711	0.62733	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.93547	-3.24;-3.04	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.899	D	0.95876	0.8895	10	0.66056	D	0.02	-12.8119	18.4682	0.90763	0.0:1.0:0.0:0.0	.	17;17;17	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	17	ENSP00000285071:R17H;ENSP00000373821:R17H	ENSP00000285071:R17H	R	-	2	0	0	FLCN	17072127	17072127	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.606000	0.88127	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_144606			46	46		193	192	1		1	1		0	0	46	0		1	9.999913e-01	0	23	0	54	0	46	193
NT5M	56953	broad.mit.edu	37	17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	226					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682																																						ENST00000389022.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				4						c.(676-678)cGg>cAg		5',3'-nucleotidase, mitochondrial							37.0	44.0	41.0					17																	17250251		2203	4300	6503	SO:0001583	missense	56953	4	121404	37				g.chr17:17250251G>A	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.677G>A	chr17.hg19:g.17250251G>A	ENSP00000373674:p.Arg226Gln	0					NT5M_ENST00000582909.1_3'UTR	p.R226Q	NM_020201.3	NP_064586.1	1	2	3	2.017774	Q9NPB1	NT5M_HUMAN		5	893	+				Missense_Mutation	SNP	ENST00000389022.4	1	1	hg19	c.677G>A	CCDS32581.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.030203|5.030203	0.93575|0.93575	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.46451	.|0.87	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|HAD-like domain (2);	0.238680|.	0.46758|.	D|.	0.000264|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.75447|0.75447	2.3|2.3	0.30268|0.30268	N|N	0.792551|0.792551	D|D;D	0.76494|0.89917	0.999|1.0;1.0	P|D;D	0.59115|0.97110	0.852|0.99;1.0	T|T	0.66968|0.66968	-0.5789|-0.5789	9|9	0.87932|0.87932	D|D	0|0	-6.3164|-6.3164	16.7638|16.7638	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225|232;226	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	S|Q	225|226	.|ENSP00000373674:R226Q	ENSP00000390695:G225S|ENSP00000373674:R226Q	G|R	+|+	1|2	0|0	0|0	NT5M|NT5M	17190976|17190976	17190976|17190976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.604000|0.604000	0.37047|0.37047	8.364000|8.364000	0.90105|0.90105	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GGC|CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				43	43		243	237	1		1	1		0	0	46	0		1	6.070656e-01	0	3	0	10	0	43	243
MED9	55090	broad.mit.edu	37	17	17380439	17380439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	28	Pro-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721																																						ENST00000268711.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(82-84)aaG>aaA		mediator complex subunit 9							12.0	14.0	13.0					17																	17380439		2191	4278	6469	SO:0001819	synonymous_variant	55090	0	0					g.chr17:17380439G>A	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.84G>A	chr17.hg19:g.17380439G>A		0					MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	p.K28K	NM_018019.2	NP_060489.1	1	2	3	2.017774	Q9NWA0	MED9_HUMAN		1	140	+				Silent	SNP	ENST00000268711.3	1	1	hg19	c.84G>A	CCDS11184.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	1	0	1		2	2	2	0		0	0	26		26	19	1	2.060000	-20.000000	1	0.170000	NM_018019			36	35		108	91	0		1	1		0	0	26	0		1	5.592573e-01	0	2	0	5	0	36	108
RASD1	51655	broad.mit.edu	37	17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000225688.3	-	1	396	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	62					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647																																						ENST00000225688.3	1.000000	0.290000	6.700000e-01	3.800000e-01	0.490000	0.546591	0.490000	0.470000																										0				4						c.(184-186)cGc>cAc		RAS, dexamethasone-induced 1							140.0	120.0	127.0					17																	17399311		2203	4300	6503	SO:0001583	missense	51655	0	0					g.chr17:17399311C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.185G>A	chr17.hg19:g.17399311C>T	ENSP00000225688:p.Arg62His	0					RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	1	2	3	2.017774	Q9Y272	RASD1_HUMAN		1	396	-			B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	1	1	hg19	c.185G>A	CCDS11185.1	0	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598634	0.66332	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	4.81	0.61882	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90983	0.4829	10	0.56958	D	0.05	.	16.8723	0.86043	0.0:1.0:0.0:0.0	.	62	Q9Y272	RASD1_HUMAN	H	62	ENSP00000225688:R62H	ENSP00000225688:R62H	R	-	2	0	0	RASD1	17340036	17340036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.199000	0.70637	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	0	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.048339	1	0.170000	NM_016084			18	18		433	418	0		1	0		0	0	79	0		9.999767e-01	9.378778e-01	0	1	0	114	0	18	433
RAI1	10743	broad.mit.edu	37	17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T	rs370882080	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	95					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)			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)		CAGGGGAGGCCGGCTTTCCCT	0.711													C|||	3	0.000599042	0.0	0.0	5008	,	,		12657	0.002		0.0	False		,,,				2504	0.001					ENST00000353383.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				48						c.(283-285)cCg>cTg		retinoic acid induced 1							12.0	13.0	13.0					17																	17696546		2196	4282	6478	SO:0001583	missense	10743	14	121164	38				g.chr17:17696546C>T	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.284C>T	chr17.hg19:g.17696546C>T	ENSP00000323074:p.Pro95Leu	0					RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	p.P95L	NM_030665.3	NP_109590.3	1	2	3	2.017774	Q7Z5J4	RAI1_HUMAN		3	753	+			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	1	1	hg19	c.284C>T	CCDS11188.1	1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034783	0.19590	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.27;0.12	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.292981	0.29602	N	0.011692	T	0.57562	0.2062	M	0.63843	1.955	0.41446	D	0.987957	P	0.39404	0.672	B	0.28553	0.091	T	0.66188	-0.5986	10	0.87932	D	0	.	10.6015	0.45369	0.0:0.9094:0.0:0.0906	.	95	Q7Z5J4	RAI1_HUMAN	L	95	ENSP00000323074:P95L;ENSP00000379120:P95L;ENSP00000261641:P95L	ENSP00000261641:P95L	P	+	2	0	0	RAI1	17637271	17637271	0.826000	0.29277	0.977000	0.42913	0.329000	0.28539	1.841000	0.39240	2.074000	0.62210	0.462000	0.41574	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_030665			25	25		132	132	1		1	1		0	0	24	0		9.999999e-01	8.459029e-01	0	6	0	14	0	25	132
RAI1	10743	broad.mit.edu	37	17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	914					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)			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)		AAGGCCGGCTGGGGCTCTCCG	0.647																																						ENST00000353383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2740-2742)tGg>tAg		retinoic acid induced 1							39.0	36.0	37.0					17																	17699003		2203	4300	6503	SO:0001587	stop_gained	10743	0	0					g.chr17:17699003G>A	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.2741G>A	chr17.hg19:g.17699003G>A	ENSP00000323074:p.Trp914*	0					RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	p.W914*	NM_030665.3	NP_109590.3	1	2	3	2.017774	Q7Z5J4	RAI1_HUMAN		3	3210	+			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	0	1	hg19	c.2741G>A	CCDS11188.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.888434	0.98545	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.381141	0.25132	N	0.032885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.0033	0.53243	0.0:0.2341:0.7659:0.0	.	.	.	.	X	914;914;914;914;914;866	.	ENSP00000261641:W914X	W	+	2	0	0	RAI1	17639728	17639728	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.711000	0.54868	2.222000	0.72286	0.313000	0.20887	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_030665			42	42		179	173	1		1	1		0	0	36	0		1	9.999864e-01	0	15	0	61	0	42	179
RAI1	10743	broad.mit.edu	37	17	17700276	17700276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1338					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)			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)		AGATCACCTCGCCCAGCCTCA	0.627																																						ENST00000353383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4012-4014)tcG>tcA		retinoic acid induced 1							63.0	72.0	69.0					17																	17700276		2203	4300	6503	SO:0001819	synonymous_variant	10743	2	121412	34				g.chr17:17700276G>A	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.4014G>A	chr17.hg19:g.17700276G>A		0					RAI1_ENST00000261641.6_Silent_p.S1338S	p.S1338S	NM_030665.3	NP_109590.3	1	2	3	2.017774	Q7Z5J4	RAI1_HUMAN		3	4483	+			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	1	1	hg19	c.4014G>A	CCDS11188.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1		19	2	2	0		0	1	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_030665			162	161		624	616	1		1	1		0	0	137	0		1	9.999995e-01	0	8	0	71	0	162	624
RAI1	10743	broad.mit.edu	37	17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1388					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)			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)		TGTGGGCACCGGGCAGAAGCT	0.532																																						ENST00000353383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4162-4164)Ggg>Agg		retinoic acid induced 1							78.0	84.0	82.0					17																	17700424		2203	4300	6503	SO:0001583	missense	10743	1	121412	32				g.chr17:17700424G>A	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.4162G>A	chr17.hg19:g.17700424G>A	ENSP00000323074:p.Gly1388Arg	0					RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	p.G1388R	NM_030665.3	NP_109590.3	1	2	3	2.017774	Q7Z5J4	RAI1_HUMAN		3	4631	+			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	1	1	hg19	c.4162G>A	CCDS11188.1	1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459148	0.43634	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69040	-0.37;0.2	5.09	4.12	0.48240	5.09	4.12	0.48240	.	0.395398	0.23748	N	0.044943	T	0.61726	0.2370	L	0.51422	1.61	0.34082	D	0.659737	D	0.60160	0.987	P	0.45377	0.478	T	0.73404	-0.3993	10	0.66056	D	0.02	.	9.2067	0.37293	0.077:0.0:0.7775:0.1455	.	1388	Q7Z5J4	RAI1_HUMAN	R	1388;1388;1388;1340	ENSP00000323074:G1388R;ENSP00000261641:G1388R	ENSP00000261641:G1388R	G	+	1	0	0	RAI1	17641149	17641149	0.998000	0.40836	0.946000	0.38457	0.577000	0.36160	3.398000	0.52579	1.130000	0.42092	0.462000	0.41574	GGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-2.474543	0	0.170000	NM_030665			92	92		507	501	1		1	1		0	0	100	0		1	9.999760e-01	0	13	0	72	0	92	507
RAI1	10743	broad.mit.edu	37	17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1600					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)			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)		ACCCTTCGTGCGGGTGGAGAA	0.617																																						ENST00000353383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4798-4800)Cgg>Tgg		retinoic acid induced 1							84.0	94.0	91.0					17																	17701060		2203	4300	6503	SO:0001583	missense	10743	0	0					g.chr17:17701060C>T	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.4798C>T	chr17.hg19:g.17701060C>T	ENSP00000323074:p.Arg1600Trp	0					RAI1_ENST00000261641.6_Intron	p.R1600W	NM_030665.3	NP_109590.3	1	2	3	2.017774	Q7Z5J4	RAI1_HUMAN		3	5267	+			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	1	1	hg19	c.4798C>T	CCDS11188.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395284	0.62066	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.70164	-0.46	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.198489	0.35615	N	0.003089	T	0.76328	0.3972	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.79200	-0.1901	10	0.72032	D	0.01	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	1600	Q7Z5J4	RAI1_HUMAN	W	1600;1600;1488	ENSP00000323074:R1600W	ENSP00000322928:R1488W	R	+	1	2	2	RAI1	17641785	17641785	0.997000	0.39634	1.000000	0.80357	0.754000	0.42855	3.915000	0.56409	2.387000	0.81309	0.561000	0.74099	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000	NM_030665			140	136		731	713	1		1	1		0	0	147	0		1	9.999922e-01	0	14	0	73	0	140	731
SREBF1	6720	broad.mit.edu	37	17	17722393	17722393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17722393G>A	ENST00000261646.5	-	5	1186	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000395757.1_Silent_p.R80R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Silent_p.R364R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	334	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|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)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|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)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGAGCGGTAGCGCTTCTCAA	0.612																																						ENST00000261646.5	1.000000	0.150000	4.600000e-01	2.200000e-01	0.300000	0.381797	0.300000	0.280000																										0				14						c.(1000-1002)cgC>cgT		sterol regulatory element binding transcription factor 1							98.0	90.0	93.0					17																	17722393		2203	4300	6503	SO:0001819	synonymous_variant	6720	0	0					g.chr17:17722393G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1002C>T	chr17.hg19:g.17722393G>A		0					SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Silent_p.R364R|SREBF1_ENST00000395757.1_Silent_p.R80R	p.R334R	NM_004176.4	NP_004167.3	1	2	3	2.017774	P36956	SRBP1_HUMAN		5	1186	-			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	0	1	hg19	c.1002C>T	CCDS11189.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-10.112190	1	0.170000	NM_004176			11	11		443	434	0		1	1		0	0	81	0		9.981822e-01	9.537881e-01	0	9	0	205	0	11	443
SREBF1	6720	broad.mit.edu	37	17	17723477	17723477	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17723477T>G	ENST00000261646.5	-	2	634	c.450A>C	c.(448-450)ccA>ccC	p.P150P	SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000355815.4_Silent_p.P180P	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	150	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|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)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|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)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGCTGGGGCTGGGAAGCTCT	0.667																																						ENST00000261646.5	1.000000	0.110000	5.400000e-01	2.000000e-01	0.320000	0.395198	0.320000	0.280000																										0				14						c.(448-450)ccA>ccC		sterol regulatory element binding transcription factor 1							19.0	23.0	21.0					17																	17723477		2200	4292	6492	SO:0001819	synonymous_variant	6720	0	0					g.chr17:17723477T>G	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.450A>C	chr17.hg19:g.17723477T>G		0					SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000355815.4_Silent_p.P180P|SREBF1_ENST00000395757.1_5'Flank	p.P150P	NM_004176.4	NP_004167.3	1	2	3	2.017774	P36956	SRBP1_HUMAN		2	634	-			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	0	1	hg19	c.450A>C	CCDS11189.1	0	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960746	0.18583	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.58	-9.16	0.00694	4.58	-9.16	0.00694	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12785	-1.0534	4	.	.	.	-0.7168	2.8146	0.05452	0.248:0.381:0.25:0.121	.	.	.	.	R	158	.	.	S	-	1	0	0	SREBF1	17664202	17664202	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.339000	0.02652	-2.550000	0.00480	0.454000	0.30748	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	0	0	1		2	2	2	0		0	0	48		48	45	1	2.060000	-7.103536	1	0.170000	NM_004176			5	5		208	201	0		1	1		0	0	48	0		9.326490e-01	9.585093e-01	0	8	0	238	0	5	208
TOM1L2	146691	broad.mit.edu	37	17	17764838	17764838	+	Silent	SNP	G	G	A	rs117929409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000379504.3	-	12	1313	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000581396.1_Silent_p.V360V|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000318094.10_Silent_p.V365V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	410					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAAGTCCTCCGACAGCCTGAG	0.507																																					Melanoma(192;2505 2909 14455 25269)	ENST00000379504.3	1.000000	0.640000	1	8.100000e-01	0.990000	0.933944	0.990000	1.000000																										0				10						c.(1228-1230)gtC>gtT		target of myb1-like 2 (chicken)							87.0	81.0	83.0					17																	17764838		2203	4300	6503	SO:0001819	synonymous_variant	146691	1	121412	35				g.chr17:17764838G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1230C>T	chr17.hg19:g.17764838G>A		0					TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000581396.1_Silent_p.V360V	p.V410V	NM_001082968.1	NP_001076437.1	1	2	3	2.017774	Q6ZVM7	TM1L2_HUMAN		12	1313	-	all_neural(463;0.228)		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	1	1	hg19	c.1230C>T	CCDS42270.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.221884	1	0.170000				20	20		218	215	0		1	1		0	0	53	0		9.999957e-01	9.174585e-01	0	4	0	45	0	20	218
RPA1	6117	broad.mit.edu	37	17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	211					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(631-633)aCc>aTc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							145.0	113.0	124.0					17																	1780550		2203	4300	6503	SO:0001583	missense	6117	0	0					g.chr17:1780550C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.632C>T	chr17.hg19:g.1780550C>T	ENSP00000254719:p.Thr211Ile	0					RPA1_ENST00000573924.1_3'UTR	p.T211I	NM_002945.3	NP_002936.1	1	2	3	2.017774	P27694	RFA1_HUMAN		8	742	+			A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	1	1	hg19	c.632C>T	CCDS11014.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994189	0.93167	.	.	ENSG00000132383	ENST00000254719	T	0.51325	0.71	5.98	5.98	0.97165	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81856	-0.0740	10	0.54805	T	0.06	-25.4334	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211	P27694	RFA1_HUMAN	I	211	ENSP00000254719:T211I	ENSP00000254719:T211I	T	+	2	0	0	RPA1	1727300	1727300	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	ACC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_002945			40	40		188	186	1		1	1		0	0	36	0		1	1	0	62	0	177	0	40	188
TOM1L2	146691	broad.mit.edu	37	17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000379504.3	-	11	1180	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	366					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACTGACGCTCTCTGTCCCCAA	0.537																																					Melanoma(192;2505 2909 14455 25269)	ENST00000379504.3	1.000000	0.170000	4.500000e-01	2.300000e-01	0.310000	0.386942	0.310000	0.290000																										0				10						c.(1096-1098)gAg>gTg		target of myb1-like 2 (chicken)							118.0	111.0	114.0					17																	17766150		2203	4300	6503	SO:0001583	missense	146691	0	0					g.chr17:17766150T>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1097A>T	chr17.hg19:g.17766150T>A	ENSP00000368818:p.Glu366Val	0					TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V	p.E366V	NM_001082968.1	NP_001076437.1	1	2	3	2.017774	Q6ZVM7	TM1L2_HUMAN		11	1180	-	all_neural(463;0.228)		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	1	1	hg19	c.1097A>T	CCDS42270.1	0	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453805	0.63290	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.47869	1.85;1.84;1.83;1.82;0.83	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.480039	0.25726	N	0.028717	T	0.46870	0.1415	N	0.14661	0.345	0.45528	D	0.998487	B;P;P;P;P;P	0.52170	0.052;0.951;0.774;0.497;0.712;0.883	B;P;B;B;B;B	0.55871	0.057;0.786;0.265;0.162;0.247;0.33	T	0.44498	-0.9324	10	0.33141	T	0.24	-10.1202	16.2879	0.82732	0.0:0.0:0.0:1.0	.	268;218;313;321;366;316	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	V	366;316;321;313;268;218	ENSP00000368818:E366V;ENSP00000379088:E321V;ENSP00000438621:E313V;ENSP00000437655:E268V;ENSP00000445188:E218V	ENSP00000312860:E316V	E	-	2	0	0	TOM1L2	17706875	17706875	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.866000	0.87056	2.242000	0.73789	0.533000	0.62120	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1	0	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.121230	1	0.170000				13	13		508	498	0		1	0		0	0	112	0		9.994797e-01	2.416382e-01	0	1	0	34	0	13	508
LRRC48	83450	broad.mit.edu	37	17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000399187.1	+	10	1338	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	374						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552																																						ENST00000399187.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997905	0.990000	1.000000																										0				7						c.(1120-1122)Gag>Aag		leucine rich repeat containing 48							61.0	61.0	61.0					17																	17907797		2151	4267	6418	SO:0001583	missense	83450	0	0					g.chr17:17907797G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1120G>A	chr17.hg19:g.17907797G>A	ENSP00000382140:p.Glu374Lys	0					LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K	p.E374K	NM_031294.3	NP_112584.3	1	2	3	2.017774	Q9H069	LRC48_HUMAN		10	1338	+	all_neural(463;0.228)		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	0	1	hg19	c.1120G>A	CCDS45622.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.311348	0.95655	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.270549	0.41605	N	0.000849	T	0.52256	0.1723	M	0.76838	2.35	0.80722	D	1	P;P	0.45283	0.773;0.855	B;B	0.41510	0.127;0.359	T	0.54596	-0.8270	10	0.23891	T	0.37	-29.2984	17.6257	0.88093	0.0:0.0:1.0:0.0	.	374;374	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	374	ENSP00000326870:E374K;ENSP00000394020:E374K;ENSP00000382140:E374K;ENSP00000382136:E374K	ENSP00000326870:E374K	E	+	1	0	0	LRRC48	17848522	17848522	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.917000	0.63369	2.432000	0.82394	0.655000	0.94253	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.976180	1	0.170000	NM_031294			12	11		63	61	1		1	0		0	0	18	0		9.992059e-01	6.082152e-01	0	1	0	11	0	12	63
DRG2	1819	broad.mit.edu	37	17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000225729.3	+	4	481	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_ENST00000395726.4_Missense_Mutation_p.D115N|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	115	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547																																						ENST00000225729.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(343-345)Gac>Aac		developmentally regulated GTP binding protein 2							111.0	102.0	105.0					17																	18002358		2203	4300	6503	SO:0001583	missense	1819	0	0					g.chr17:18002358G>A	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.343G>A	chr17.hg19:g.18002358G>A	ENSP00000225729:p.Asp115Asn	0					DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N	p.D115N	NM_001388.4	NP_001379.1	1	2	3	2.017774	P55039	DRG2_HUMAN		4	481	+	all_neural(463;0.228)		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	1	1	hg19	c.343G>A	CCDS11191.1	1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647216	0.67358	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.73047	-0.71;-0.71	5.05	5.05	0.67936	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.99961	5.07	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	0.96686	0.9507	10	0.87932	D	0	-18.123	18.4054	0.90533	0.0:0.0:1.0:0.0	.	115;115;115	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	N	115	ENSP00000379076:D115N;ENSP00000225729:D115N	ENSP00000225729:D115N	D	+	1	0	0	DRG2	17943083	17943083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.143776	1	0.170000	NM_001388			65	62		376	369	1		1	1		0	0	68	0		1	9.999928e-01	0	25	0	76	0	65	376
DRG2	1819	broad.mit.edu	37	17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000225729.3	+	10	956	c.818A>C	c.(817-819)aAg>aCg	p.K273T	DRG2_ENST00000395726.4_Missense_Mutation_p.K273T|DRG2_ENST00000583355.1_Missense_Mutation_p.E79D	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	273	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572																																						ENST00000225729.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(817-819)aAg>aCg		developmentally regulated GTP binding protein 2							125.0	115.0	119.0					17																	18007126		2203	4300	6503	SO:0001583	missense	1819	0	0					g.chr17:18007126A>C	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.818A>C	chr17.hg19:g.18007126A>C	ENSP00000225729:p.Lys273Thr	0					DRG2_ENST00000583355.1_Missense_Mutation_p.E79D|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T	p.K273T	NM_001388.4	NP_001379.1	1	2	3	2.017774	P55039	DRG2_HUMAN		10	956	+	all_neural(463;0.228)		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	1	1	hg19	c.818A>C	CCDS11191.1	1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546066	0.65198	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18657	2.2;2.2	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.129729	0.64402	D	0.000002	T	0.30386	0.0763	M	0.86028	2.79	0.30455	N	0.77487	B;B	0.29862	0.259;0.072	B;B	0.24701	0.055;0.034	T	0.31447	-0.9943	10	0.36615	T	0.2	-19.2294	15.2684	0.73681	1.0:0.0:0.0:0.0	.	273;273	A8MZF9;P55039	.;DRG2_HUMAN	T	273	ENSP00000379076:K273T;ENSP00000225729:K273T	ENSP00000225729:K273T	K	+	2	0	0	DRG2	17947851	17947851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.003000	0.58678	0.459000	0.35465	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_001388			92	90		464	453	1		1	1		0	0	104	0		1	1	0	43	0	118	0	92	464
MYO15A	51168	broad.mit.edu	37	17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	114					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)			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)					CTTCCCAGGCCGCCGTGGCTA	0.617																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(340-342)Cgc>Agc		myosin XVA							10.0	12.0	11.0					17																	18022454		1675	3746	5421	SO:0001583	missense	51168	0	0					g.chr17:18022454C>A	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.340C>A	chr17.hg19:g.18022454C>A	ENSP00000205890:p.Arg114Ser	0						p.R114S	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		2	678	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.340C>A	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710691	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	4.92	2.65	0.31530	4.92	2.65	0.31530	.	.	.	.	.	T	0.79106	0.4390	N	0.24115	0.695	0.09310	N	0.999999	P	0.44690	0.841	B	0.35278	0.199	T	0.69316	-0.5177	9	0.54805	T	0.06	.	10.4112	0.44294	0.2702:0.6111:0.1186:0.0	.	114	Q9UKN7	MYO15_HUMAN	S	114	ENSP00000205890:R114S	ENSP00000205890:R114S	R	+	1	0	0	MYO15A	17963179	17963179	0.014000	0.17966	0.019000	0.16419	0.119000	0.20118	0.115000	0.15540	1.040000	0.40099	0.462000	0.41574	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-20.000000	1	0.170000	NM_016239			34	34		142	139	0		1			0	0	27	0		1	0	0	0	0	0	0	34	142
MYO15A	51168	broad.mit.edu	37	17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	958					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)			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)					AGGCCACCCCCTGTGCCGGAA	0.682																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999640	0.990000	1.000000																										0				99						c.(2872-2874)cCt>cTt		myosin XVA							11.0	13.0	13.0					17																	18024987		1870	4056	5926	SO:0001583	missense	51168	0	0					g.chr17:18024987C>T	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.2873C>T	chr17.hg19:g.18024987C>T	ENSP00000205890:p.Pro958Leu	0						p.P958L	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		2	3211	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.2873C>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	c	8.837	0.941276	0.18281	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	4.49	2.44	0.29823	4.49	2.44	0.29823	.	.	.	.	.	T	0.78175	0.4242	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.66952	-0.5793	9	0.72032	D	0.01	.	5.4677	0.16652	0.1973:0.6959:0.0:0.1068	.	958	Q9UKN7	MYO15_HUMAN	L	958	ENSP00000205890:P958L	ENSP00000205890:P958L	P	+	2	0	0	MYO15A	17965712	17965712	0.001000	0.12720	0.007000	0.13788	0.257000	0.26127	1.014000	0.29950	0.324000	0.23333	0.462000	0.41574	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_016239			21	19		118	113	0		1			0	0	21	0		9.999976e-01	0	0	0	0	0	0	21	118
MYO15A	51168	broad.mit.edu	37	17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1037					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)			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)					CCTCCCAAGGATGTCACTCCC	0.612																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3109-3111)gAt>gGt		myosin XVA							73.0	79.0	77.0					17																	18025224		1963	4151	6114	SO:0001583	missense	51168	1	120910	33				g.chr17:18025224A>G	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.3110A>G	chr17.hg19:g.18025224A>G	ENSP00000205890:p.Asp1037Gly	0						p.D1037G	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		2	3448	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.3110A>G	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	A	5.810	0.333662	0.11013	.	.	ENSG00000091536	ENST00000205890	D	0.87334	-2.24	0.717	-1.43	0.08884	0.717	-1.43	0.08884	.	.	.	.	.	T	0.66336	0.2779	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.55418	-0.8144	9	0.32370	T	0.25	.	2.8426	0.05534	0.5027:0.4973:0.0:0.0	.	1037	Q9UKN7	MYO15_HUMAN	G	1037	ENSP00000205890:D1037G	ENSP00000205890:D1037G	D	+	2	0	0	MYO15A	17965949	17965949	0.008000	0.16893	0.066000	0.19879	0.076000	0.17211	0.332000	0.19751	0.077000	0.16863	0.076000	0.15429	GAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000	NM_016239			160	159		537	514	1		1			0	0	160	0		1	0	0	0	0	0	0	160	537
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070					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)			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)					CGTGTGACCAGACCAGGGCCA	0.647																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3208-3210)caG>caT		myosin XVA							85.0	91.0	89.0					17																	18025324		1998	4164	6162	SO:0001583	missense	51168	0	0					g.chr17:18025324G>T	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.3210G>T	chr17.hg19:g.18025324G>T	ENSP00000205890:p.Gln1070His	0						p.Q1070H	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		2	3548	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.3210G>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	g	9.487	1.099688	0.20552	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	2	MYO15A	17966049	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0		2	2	2	0		0	0	178		178	176	1	2.060000	-20.000000	1	0.170000	NM_016239			114	112		781	767	1		1			0	0	178	0		1	0	0	0	0	0	0	114	781
MYO15A	51168	broad.mit.edu	37	17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1183					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)			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)					GGGCCCTGGAGCTGCCTGCCT	0.637																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3547-3549)Gct>Tct		myosin XVA							36.0	44.0	41.0					17																	18025661		2034	4186	6220	SO:0001583	missense	51168	0	0					g.chr17:18025661G>T	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.3547G>T	chr17.hg19:g.18025661G>T	ENSP00000205890:p.Ala1183Ser	0						p.A1183S	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		2	3885	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.3547G>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.173760	0.38413	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.22	2.93	0.34026	5.22	2.93	0.34026	.	.	.	.	.	T	0.79505	0.4457	L	0.38175	1.15	0.18873	N	0.999984	B	0.20261	0.043	B	0.16722	0.016	T	0.66488	-0.5911	9	0.36615	T	0.2	.	7.1014	0.25340	0.2546:0.0:0.7454:0.0	.	1183	Q9UKN7	MYO15_HUMAN	S	1183	ENSP00000205890:A1183S	ENSP00000205890:A1183S	A	+	1	0	0	MYO15A	17966386	17966386	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	0.483000	0.22292	0.949000	0.37715	0.561000	0.74099	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	63		63	58	1	2.060000	-20.000000	1	0.170000	NM_016239			59	56		315	303	1		1			0	0	63	0		1	0	0	0	0	0	0	59	315
MYO15A	51168	broad.mit.edu	37	17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1266	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)			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)					ACCCATACCAAATGTTTGGAA	0.617																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				99						c.(3796-3798)caA>caC		myosin XVA							65.0	72.0	70.0					17																	18029702		2060	4199	6259	SO:0001583	missense	51168	0	0					g.chr17:18029702A>C	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.3798A>C	chr17.hg19:g.18029702A>C	ENSP00000205890:p.Gln1266His	0						p.Q1266H	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		5	4136	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.3798A>C	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078142	0.36662	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.76	-4.7	0.03288	4.76	-4.7	0.03288	Myosin head, motor domain (3);	.	.	.	.	T	0.80502	0.4635	L	0.52573	1.65	0.45979	D	0.998799	P	0.42941	0.794	B	0.42163	0.378	T	0.72880	-0.4158	9	0.66056	D	0.02	.	5.9835	0.19421	0.3199:0.1036:0.4753:0.1012	.	1266	Q9UKN7	MYO15_HUMAN	H	1266	ENSP00000205890:Q1266H	ENSP00000205890:Q1266H	Q	+	3	2	2	MYO15A	17970427	17970427	0.032000	0.19561	0.522000	0.27862	0.602000	0.36980	-0.287000	0.08388	-1.279000	0.02405	-1.288000	0.01363	CAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_016239			43	42		241	240	1		1			0	0	61	0		1	0	0	0	0	0	0	43	241
MYO15A	51168	broad.mit.edu	37	17	18030104	18030104	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						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)			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)					TGTCTCCCCAGGCACCTCTTT	0.552																																						ENST00000205890.5	1.000000	0.310000	6.000000e-01	3.800000e-01	0.460000	0.520432	0.460000	0.450000																										0				99						c.e6-1		myosin XVA							113.0	117.0	116.0					17																	18030104		2003	4164	6167	SO:0001630	splice_region_variant	51168	0	0					g.chr17:18030104G>T	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.3867-1G>T	chr17.hg19:g.18030104G>T		0							NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		6	4204	+	all_neural(463;0.228)		B4DFC7	Splice_Site	SNP	ENST00000205890.5	1	1	hg19		CCDS42271.1	0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459850	0.84317	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3189	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MYO15A	17970829	17970829	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.807000	0.99171	2.321000	0.78463	0.655000	0.94253	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	0	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-3.902813	1	0.170000	NM_016239	Intron		30	29		757	740	0		1			0	0	144	0		1	0	0	0	0	0	0	30	757
MYO15A	51168	broad.mit.edu	37	17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1659	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)			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)					TGGCATCCTGCGGATCCTTGA	0.557																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(4975-4977)Cgg>Tgg		myosin XVA							91.0	92.0	92.0					17																	18041528		2198	4294	6492	SO:0001583	missense	51168	1	121358	36				g.chr17:18041528C>T	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.4975C>T	chr17.hg19:g.18041528C>T	ENSP00000205890:p.Arg1659Trp	0						p.R1659W	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		17	5313	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.4975C>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688329	0.48097	.	.	ENSG00000091536	ENST00000205890	D	0.95205	-3.64	5.64	3.43	0.39272	5.64	3.43	0.39272	Myosin head, motor domain (3);	.	.	.	.	D	0.96494	0.8856	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96458	0.9339	9	0.72032	D	0.01	.	11.8686	0.52507	0.2227:0.6798:0.0976:0.0	.	1659	Q9UKN7	MYO15_HUMAN	W	1659	ENSP00000205890:R1659W	ENSP00000205890:R1659W	R	+	1	2	2	MYO15A	17982253	17982253	0.994000	0.37717	1.000000	0.80357	0.645000	0.38454	1.591000	0.36665	1.358000	0.45922	0.655000	0.94253	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.433429	1	0.170000	NM_016239			57	57		240	238	0		1			0	0	64	0		1	0	0	0	0	0	0	57	240
MYO15A	51168	broad.mit.edu	37	17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1805	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)			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)					ACAGGAGCCAGGTCTCTTTGA	0.542											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(5413-5415)Ggt>Tgt		myosin XVA							63.0	66.0	65.0					17																	18044339		1960	4153	6113	SO:0001583	missense	51168	0	0					g.chr17:18044339G>T	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.5413G>T	chr17.hg19:g.18044339G>T	ENSP00000205890:p.Gly1805Cys	0		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.G1805C	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		22	5751	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.5413G>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165221	0.21538	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.78	4.8	0.61643	5.78	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92928	0.7750	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	D	0.92453	0.5971	9	0.48119	T	0.1	.	13.9293	0.63983	0.1321:0.0:0.8679:0.0	.	1805	Q9UKN7	MYO15_HUMAN	C	1805	ENSP00000205890:G1805C	ENSP00000205890:G1805C	G	+	1	0	0	MYO15A	17985064	17985064	1.000000	0.71417	0.808000	0.32385	0.121000	0.20230	3.994000	0.56994	0.803000	0.34113	-1.134000	0.01955	GGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.381410	1	0.170000	NM_016239			36	36		160	157	1		1			0	0	54	0		1	0	0	0	0	0	0	36	160
MYO15A	51168	broad.mit.edu	37	17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	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)			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)					ATGGCGCTGGACGTGGGCTGC	0.672																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				99						c.(6673-6675)gAc>gGc		myosin XVA							30.0	34.0	32.0					17																	18051507		2118	4244	6362	SO:0001583	missense	51168	0	0					g.chr17:18051507A>G	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.6674A>G	chr17.hg19:g.18051507A>G	ENSP00000205890:p.Asp2225Gly	0					snoU13_ENST00000459354.1_RNA	p.D2225G	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		31	7012	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.6674A>G	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276792	0.59758	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	4.1	4.1	0.47936	4.1	4.1	0.47936	.	.	.	.	.	D	0.91338	0.7268	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.90939	0.4796	9	0.42905	T	0.14	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	2225	Q9UKN7	MYO15_HUMAN	G	2225	ENSP00000205890:D2225G	ENSP00000205890:D2225G	D	+	2	0	0	MYO15A	17992232	17992232	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.611000	0.67674	1.733000	0.51620	0.459000	0.35465	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_016239			40	41		236	232	1		1			0	0	49	1		1	0	0	0	0	0	0	40	236
MYO15A	51168	broad.mit.edu	37	17	18054176	18054176	+	Silent	SNP	G	G	A	rs374624571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2474	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)			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)					TGCAGGCCACGGCACTCCAGC	0.672																																						ENST00000205890.5	1.000000	0.610000	1	9.200000e-01	0.990000	0.959556	0.990000	1.000000																										0				99						c.(7420-7422)acG>acA		myosin XVA		G		0,4072		0,0,2036	20.0	26.0	24.0		7422	4.0	1.0	17		24	1,8353		0,1,4176	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6212	AA,AG,GG		0.012,0.0,0.0080		2474/3531	18054176	1,12425	2036	4177	6213	SO:0001819	synonymous_variant	51168	0	0					g.chr17:18054176G>A	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.7422G>A	chr17.hg19:g.18054176G>A		0					MYO15A_ENST00000418233.3_5'Flank	p.T2474T	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		38	7760	+	all_neural(463;0.228)		B4DFC7	Silent	SNP	ENST00000205890.5	0	1	hg19	c.7422G>A	CCDS42271.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-13.235710	1	0.170000	NM_016239			7	7		57	56	1		1	0		0	0	12	0		9.816421e-01	0	0	1	0	0	0	7	57
MYO15A	51168	broad.mit.edu	37	17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A	rs201619309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2512	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)			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)					TGCCAAACCCGTGCTCCTGCG	0.647													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16594	0.0		0.0	False		,,,				2504	0.0					ENST00000205890.5	1.000000	0.400000	6.600000e-01	4.600000e-01	0.540000	0.587424	0.540000	0.530000																										0				99						c.(7534-7536)Gtg>Atg		myosin XVA		G	MET/VAL	0,4012		0,0,2006	99.0	111.0	107.0		7534	5.2	1.0	17		107	2,8326		0,2,4162	yes	missense	MYO15A	NM_016239.3	21	0,2,6168	AA,AG,GG		0.024,0.0,0.0162	probably-damaging	2512/3531	18054484	2,12338	2006	4164	6170	SO:0001583	missense	51168	10	120948	45				g.chr17:18054484G>A	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.7534G>A	chr17.hg19:g.18054484G>A	ENSP00000205890:p.Val2512Met	0					MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	p.V2512M	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		39	7872	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.7534G>A	CCDS42271.1	0	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685918	0.29962	0.0	2.4E-4	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.25	5.25	0.73442	5.25	5.25	0.73442	.	.	.	.	.	D	0.90645	0.7066	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.90169	0.4234	9	0.54805	T	0.06	.	10.1994	0.43073	0.0917:0.0:0.9083:0.0	.	2512	Q9UKN7	MYO15_HUMAN	M	2512	ENSP00000205890:V2512M	ENSP00000205890:V2512M	V	+	1	0	0	MYO15A	17995209	17995209	1.000000	0.71417	0.958000	0.39756	0.201000	0.24016	4.002000	0.57053	2.608000	0.88229	0.655000	0.94253	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	207		207	202	1	2.060000	-5.387335	1	0.170000	NM_016239			50	51		1068	1049	0		1	0		0	0	207	0		1	2.112272e-03	0	0	0	2	0	50	1068
MYO15A	51168	broad.mit.edu	37	17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000205890.5	+	54	9532	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3065	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|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)			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)					CTCAGCGACAGCAGCCTCAGC	0.587																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				99						c.(9193-9195)aGc>aTc		myosin XVA							87.0	94.0	92.0					17																	18062626		2119	4225	6344	SO:0001583	missense	51168	0	0					g.chr17:18062626G>T	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.9194G>T	chr17.hg19:g.18062626G>T	ENSP00000205890:p.Ser3065Ile	0					MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	p.S3065I	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		54	9532	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.9194G>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068420	0.20067	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94966	-2.38;-3.57	4.94	1.56	0.23342	4.94	1.56	0.23342	MyTH4 domain (2);	.	.	.	.	D	0.90229	0.6945	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40000	0.698;0.429;0.437	B;B;B	0.37047	0.205;0.24;0.091	D	0.84921	0.0854	9	0.42905	T	0.14	.	9.9795	0.41804	0.1341:0.2133:0.6525:0.0	.	54;329;3065	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	I	3065;54;19	ENSP00000205890:S3065I;ENSP00000451782:S19I	ENSP00000205890:S3065I	S	+	2	0	0	MYO15A	18003351	18003351	0.996000	0.38824	0.999000	0.59377	0.763000	0.43281	1.147000	0.31602	0.132000	0.18615	-1.598000	0.00824	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-3.353034	1	0.170000	NM_016239			40	40		206	200	1		1	1		0	0	71	0		1	4.506816e-01	0	3	0	6	0	40	206
MYO15A	51168	broad.mit.edu	37	17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000205890.5	+	58	9924	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3196	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|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)			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)					GGAGCTCCCCAGCAGCATAGA	0.597																																						ENST00000205890.5	1.000000	0.380000	1	5.200000e-01	0.700000	0.725447	0.700000	1.000000																										0				99						c.(9586-9588)Agc>Ggc		myosin XVA							39.0	40.0	40.0					17																	18065967		1944	4141	6085	SO:0001583	missense	51168	0	0					g.chr17:18065967A>G	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.9586A>G	chr17.hg19:g.18065967A>G	ENSP00000205890:p.Ser3196Gly	0					MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	p.S3196G	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		58	9924	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.9586A>G	CCDS42271.1	0	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710290	0.48517	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92752	-3.1;-3.1;-3.1	4.94	3.86	0.44501	4.94	3.86	0.44501	MyTH4 domain (3);	.	.	.	.	D	0.92675	0.7672	M	0.89715	3.055	0.44024	D	0.996748	B;B;B;B;B;B	0.26602	0.062;0.067;0.014;0.046;0.083;0.154	B;B;B;B;B;B	0.31016	0.123;0.058;0.021;0.028;0.036;0.066	D	0.89101	0.3489	9	0.36615	T	0.2	.	10.4867	0.44726	0.9226:0.0:0.0774:0.0	.	88;185;460;3196;118;203	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	G	3196;185;150;88;88	ENSP00000205890:S3196G;ENSP00000451782:S150G;ENSP00000409098:S88G	ENSP00000205890:S3196G	S	+	1	0	0	MYO15A	18006692	18006692	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.939000	0.70179	0.732000	0.32470	0.374000	0.22700	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-15.253490	1	0.170000	NM_016239			12	11		202	195	0		1	0		0	0	40	0		9.989876e-01	2.121867e-02	0	0	0	4	0	12	202
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	rs377125285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|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)			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)					GCTCTGGTTCCGGCGTGTGCT	0.577																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(9880-9882)Cgg>Tgg		myosin XVA		C	TRP/ARG	1,4229		0,1,2114	113.0	124.0	120.0		9880	5.5	1.0	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense	51168	2	121070	34				g.chr17:18069767C>T	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.9880C>T	chr17.hg19:g.18069767C>T	ENSP00000205890:p.Arg3294Trp	0					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	p.R3294W	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		61	10218	+	all_neural(463;0.228)		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	1	1	hg19	c.9880C>T	CCDS42271.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	2	MYO15A	18010492	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-2.581240	1	0.170000	NM_016239			100	98		523	516	1		1	0		0	0	140	0		1	0	0	0	0	1	0	100	523
MYO15A	51168	broad.mit.edu	37	17	18075471	18075471	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10217G>A	c.(10216-10218)gGc>gAc	p.G3406D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Splice_Site_p.G670D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3406	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|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)			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)					CCCTGCCCAGGCCTCCTCAGC	0.597																																						ENST00000205890.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(10216-10218)gGc>gAc		myosin XVA							91.0	99.0	96.0					17																	18075471		2114	4229	6343	SO:0001630	splice_region_variant	51168	0	0					g.chr17:18075471G>A	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.10217-1G>A	chr17.hg19:g.18075471G>A		0					MYO15A_ENST00000451725.2_Splice_Site_p.A200T|MYO15A_ENST00000418233.3_Splice_Site_p.G670D|RP11-258F1.1_ENST00000577847.1_RNA	p.G3406D	NM_016239.3	NP_057323.3	1	2	3	2.017774	Q9UKN7	MYO15_HUMAN		64	10555	+	all_neural(463;0.228)		B4DFC7	Splice_Site	SNP	ENST00000205890.5	1	0	hg19	c.10217G>A	CCDS42271.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.863609|2.863609	0.51482|0.51482	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000451725|ENST00000205890;ENST00000418233;ENST00000445289	D|T	0.98105|0.77098	-4.72|-1.07	5.81|5.81	5.81|5.81	0.92471|0.92471	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.85305|0.85305	0.5666|0.5666	L|L	0.48174|0.48174	1.505|1.505	0.50171|0.50171	D|D	0.999855|0.999855	B|D;D;P;D	0.32245|0.89917	0.361|1.0;1.0;0.952;1.0	B|D;D;P;D	0.32864|0.97110	0.154|0.995;0.995;0.876;1.0	T|T	0.82983|0.82983	-0.0186|-0.0186	8|8	.|.	.|.	.|.	.|.	19.6732|19.6732	0.95918|0.95918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|395;101;670;3406	B4DQJ3|B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.|.;.;.;MYO15_HUMAN	T|D	200|3406;395;101	ENSP00000409098:A200T|ENSP00000205890:G3406D	.|.	A|G	+|+	1|2	0|0	0|0	MYO15A|MYO15A	18016196|18016196	18016196|18016196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	9.647000|9.647000	0.98478|0.98478	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCC|GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_016239	Missense_Mutation		73	68		313	304	1		1	0		0	0	62	0		1	3.658295e-02	0	1	0	1	0	73	313
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(979-981)cGc>cAc		AlkB family member 5, RNA demethylase							143.0	148.0	146.0					17																	18110257		1940	4129	6069	SO:0001583	missense	54890	0	0					g.chr17:18110257G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.980G>A	chr17.hg19:g.18110257G>A	ENSP00000382091:p.Arg327His	0					ALKBH5_ENST00000541285.1_5'UTR	p.R327H	NM_017758.3	NP_060228.3	1	2	3	2.017774	Q6P6C2	ALKB5_HUMAN		3	985	+	all_neural(463;0.228)		B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	1	1	hg19	c.980G>A	CCDS42272.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	0	ALKBH5	18050982	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	1	0	1		2	2	2	0		0	0	249		249	248	1	2.060000	-20.000000	1	0.170000	NM_017758			201	197		990	980	1		1	1		0	0	249	0		1	1	0	78	0	293	0	201	990
LLGL1	3996	broad.mit.edu	37	17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	43					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622																																						ENST00000316843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(127-129)Gac>Aac		lethal giant larvae homolog 1 (Drosophila)							107.0	93.0	98.0					17																	18133300		2203	4300	6503	SO:0001583	missense	3996	0	0					g.chr17:18133300G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.127G>A	chr17.hg19:g.18133300G>A	ENSP00000321537:p.Asp43Asn	0						p.D43N	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		2	223	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	1	1	hg19	c.127G>A	CCDS32586.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.450212	0.96205	.	.	ENSG00000131899	ENST00000316843	T	0.64618	-0.11	5.16	5.16	0.70880	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.87932	D	0	-37.7297	17.8256	0.88664	0.0:0.0:1.0:0.0	.	43	Q15334	L2GL1_HUMAN	N	43	ENSP00000321537:D43N	ENSP00000321537:D43N	D	+	1	0	0	LLGL1	18074025	18074025	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	4.514000	0.60482	2.584000	0.87258	0.558000	0.71614	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000				118	118		457	452	1		1	1		0	0	109	0		1	9.999703e-01	0	23	0	37	0	118	457
LLGL1	3996	broad.mit.edu	37	17	18135840	18135840	+	Silent	SNP	C	C	T	rs139741665		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	71					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18640	0.0		0.001	False		,,,				2504	0.0					ENST00000316843.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				21						c.(211-213)Ctg>Ttg		lethal giant larvae homolog 1 (Drosophila)							76.0	64.0	68.0					17																	18135840		2203	4300	6503	SO:0001819	synonymous_variant	3996	1	121408	24				g.chr17:18135840C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.211C>T	chr17.hg19:g.18135840C>T		0						p.L71L	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		3	307	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	1	1	hg19	c.211C>T	CCDS32586.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				30	28		159	157	1		1	1		0	0	49	0		1	9.993029e-01	0	6	0	57	0	30	159
LLGL1	3996	broad.mit.edu	37	17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	323					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582																																						ENST00000316843.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996726	0.990000	1.000000																										0				21						c.(967-969)gTa>gCa		lethal giant larvae homolog 1 (Drosophila)							86.0	62.0	70.0					17																	18138215		2203	4300	6503	SO:0001583	missense	3996	0	0					g.chr17:18138215T>C		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.968T>C	chr17.hg19:g.18138215T>C	ENSP00000321537:p.Val323Ala	0						p.V323A	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		9	1064	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	1	1	hg19	c.968T>C	CCDS32586.1	1	.	.	.	.	.	.	.	.	.	.	T	30	5.056948	0.93846	.	.	ENSG00000131899	ENST00000316843	T	0.07908	3.15	5.61	5.61	0.85477	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.118496	0.64402	D	0.000020	T	0.21674	0.0522	M	0.71206	2.165	0.53688	D	0.999977	P	0.52170	0.951	P	0.53035	0.716	T	0.00357	-1.1792	10	0.87932	D	0	-24.0971	14.8227	0.70085	0.0:0.0:0.0:1.0	.	323	Q15334	L2GL1_HUMAN	A	323	ENSP00000321537:V323A	ENSP00000321537:V323A	V	+	2	0	0	LLGL1	18078940	18078940	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.990000	0.88215	2.156000	0.67533	0.524000	0.50904	GTA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000				21	20		150	142	1		1	1		0	0	38	0		9.999972e-01	9.753228e-01	0	16	0	30	0	21	150
LLGL1	3996	broad.mit.edu	37	17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	628				FDYQRK -> L (in Ref. 1; CAA60130). {ECO:0000305}.	axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637																																						ENST00000316843.4	1.000000	0.670000	1	8.500000e-01	0.990000	0.949679	0.990000	1.000000																										0				21						c.(1882-1884)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)		G	HIS/ARG	0,4406		0,0,2203	42.0	33.0	36.0		1883	4.6	1.0	17	dbSNP_134	36	2,8598	2.2+/-6.3	0,2,4298	no	missense	LLGL1	NM_004140.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	628/1065	18141066	2,13004	2203	4300	6503	SO:0001583	missense	3996	4	121386	37				g.chr17:18141066G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1883G>A	chr17.hg19:g.18141066G>A	ENSP00000321537:p.Arg628His	0						p.R628H	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		14	1979	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	0	1	hg19	c.1883G>A	CCDS32586.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552439	0.86127	0.0	2.33E-4	ENSG00000131899	ENST00000316843	T	0.36157	1.27	5.53	4.57	0.56435	5.53	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);	0.048555	0.85682	D	0.000000	T	0.52964	0.1767	L	0.55481	1.735	0.53005	D	0.999966	D	0.89917	1.0	D	0.66602	0.945	T	0.55749	-0.8092	10	0.62326	D	0.03	-30.1925	14.2074	0.65744	0.0716:0.0:0.9284:0.0	.	628	Q15334	L2GL1_HUMAN	H	628	ENSP00000321537:R628H	ENSP00000321537:R628H	R	+	2	0	0	LLGL1	18081791	18081791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.464000	0.53057	1.366000	0.46076	0.561000	0.74099	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-3.221888	1	0.170000				20	20		207	206	0		1	0		0	0	24	0		9.999961e-01	9.378438e-01	0	0	0	50	0	20	207
LLGL1	3996	broad.mit.edu	37	17	18144854	18144854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	864					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642																																						ENST00000316843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2590-2592)acG>acA		lethal giant larvae homolog 1 (Drosophila)							75.0	55.0	62.0					17																	18144854		2203	4300	6503	SO:0001819	synonymous_variant	3996	0	0					g.chr17:18144854G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2592G>A	chr17.hg19:g.18144854G>A		0						p.T864T	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		18	2688	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	1	1	hg19	c.2592G>A	CCDS32586.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				44	44		173	170	1		1	1		0	0	43	0		1	9.997662e-01	0	19	0	34	0	44	173
LLGL1	3996	broad.mit.edu	37	17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T	rs566558385	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	931					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572																																						ENST00000316843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2791-2793)Gaa>Taa		lethal giant larvae homolog 1 (Drosophila)							87.0	86.0	86.0					17																	18145222		2203	4300	6503	SO:0001587	stop_gained	3996	0	0					g.chr17:18145222G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2791G>T	chr17.hg19:g.18145222G>T	ENSP00000321537:p.Glu931*	0						p.E931*	NM_004140.3	NP_004131	1	2	3	2.017774	Q15334	L2GL1_HUMAN		19	2887	+	all_neural(463;0.228)		A7MBM7|O00188|Q58F11|Q86UK6	Nonsense_Mutation	SNP	ENST00000316843.4	0	1	hg19	c.2791G>T	CCDS32586.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.437037	0.98810	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7618	19.5134	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000321537:E931X	E	+	1	0	0	LLGL1	18085947	18085947	1.000000	0.71417	0.940000	0.37924	0.827000	0.46813	9.350000	0.97070	2.696000	0.92011	0.655000	0.94253	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.241258	1	0.170000				97	96		470	461	1		1	1		0	0	100	0		1	9.999992e-01	0	2	0	96	0	97	470
FLII	2314	broad.mit.edu	37	17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000379450.4_Missense_Mutation_p.G957D|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000545457.2_Missense_Mutation_p.G988D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1043					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)			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)					CTTCCTCTTGCCCCGGTGGAT	0.637																																						ENST00000327031.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3127-3129)gGc>gAc		flightless I homolog (Drosophila)							145.0	142.0	143.0					17																	18149700		2203	4299	6502	SO:0001583	missense	2314	0	0					g.chr17:18149700C>T	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.3128G>A	chr17.hg19:g.18149700C>T	ENSP00000324573:p.Gly1043Asp	0					FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	p.G1043D	NM_002018.3	NP_002009.1	1	2	3	2.017774	Q13045	FLII_HUMAN		24	3353	-	all_neural(463;0.228)		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	1	1	hg19	c.3128G>A	CCDS11192.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962362	0.92791	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.989	T	0.64110	-0.6484	10	0.72032	D	0.01	-30.6298	19.4312	0.94768	0.0:1.0:0.0:0.0	.	957;957;1043;1012	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1043;922;957	ENSP00000324573:G1043D;ENSP00000368763:G957D	ENSP00000324573:G1043D	G	-	2	0	0	FLII	18090425	18090425	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	1	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-20.000000	1	0.170000	NM_002018			183	182		805	785	1		1	1		0	0	173	0		1	1	0	136	0	308	0	183	805
FLII	2314	broad.mit.edu	37	17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000379450.4_Missense_Mutation_p.D846G|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000545457.2_Missense_Mutation_p.D877G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	932	Glu-rich.				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)			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)					GACGTAGCAGTCCTGCGTGTA	0.612																																						ENST00000327031.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994881	0.990000	1.000000																										0				32						c.(2794-2796)gAc>gGc		flightless I homolog (Drosophila)							111.0	98.0	103.0					17																	18150248		2203	4300	6503	SO:0001583	missense	2314	0	0					g.chr17:18150248T>C	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.2795A>G	chr17.hg19:g.18150248T>C	ENSP00000324573:p.Asp932Gly	0					FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	p.D932G	NM_002018.3	NP_002009.1	1	2	3	2.017774	Q13045	FLII_HUMAN		22	3020	-	all_neural(463;0.228)		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	1	1	hg19	c.2795A>G	CCDS11192.1	1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507034	0.64410	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.38077	1.68;1.16;1.68	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.997	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.979;0.989	T	0.70223	-0.4931	10	0.87932	D	0	-37.3956	15.4149	0.74960	0.0:0.0:0.0:1.0	.	846;846;811;932;901	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	932;811;846	ENSP00000324573:D932G;ENSP00000438536:D811G;ENSP00000368763:D846G	ENSP00000324573:D932G	D	-	2	0	0	FLII	18090973	18090973	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	5.625000	0.67770	2.045000	0.60652	0.459000	0.35465	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_002018			44	43		384	384	1		1	1		0	0	52	0		1	1	0	48	0	352	0	44	384
TOP3A	7156	broad.mit.edu	37	17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R|TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	928					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582																																						ENST00000321105.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2782-2784)cAg>cGg		topoisomerase (DNA) III alpha							131.0	115.0	120.0					17																	18181033		2203	4300	6503	SO:0001583	missense	7156	1	121412	35				g.chr17:18181033T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2783A>G	chr17.hg19:g.18181033T>C	ENSP00000321636:p.Gln928Arg	0					TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R|TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R	p.Q928R	NM_004618.3	NP_004609.1	1	2	3	2.017774	Q13472	TOP3A_HUMAN		18	2997	-			A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	1	1	hg19	c.2783A>G	CCDS11194.1	1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705739	0.48412	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.22539	1.95;1.95;1.95	5.65	5.65	0.86999	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.101533	0.64402	D	0.000001	T	0.28034	0.0691	L	0.52364	1.645	0.80722	D	1	P;P	0.49307	0.922;0.656	P;B	0.46850	0.529;0.424	T	0.01215	-1.1416	10	0.39692	T	0.17	-10.0837	15.8707	0.79117	0.0:0.0:0.0:1.0	.	833;928	B4DK80;Q13472	.;TOP3A_HUMAN	R	928;458;833	ENSP00000321636:Q928R;ENSP00000446425:Q458R;ENSP00000442336:Q833R	ENSP00000321636:Q928R	Q	-	2	0	0	TOP3A	18121758	18121758	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.918000	0.69996	2.162000	0.67917	0.448000	0.29417	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	0	0	1		2	2	2	0		0	0	170		170	166	1	2.060000	-20.000000	1	0.170000				79	78		501	489	1		1	1		0	0	170	0		1	9.998482e-01	0	28	0	54	0	79	501
TOP3A	7156	broad.mit.edu	37	17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	467					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522																																						ENST00000321105.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999748	0.990000	1.000000																										0				36						c.(1399-1401)gCc>gTc		topoisomerase (DNA) III alpha							130.0	121.0	124.0					17																	18194223		2203	4300	6503	SO:0001583	missense	7156	0	0					g.chr17:18194223G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1400C>T	chr17.hg19:g.18194223G>A	ENSP00000321636:p.Ala467Val	0					TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V	p.A467V	NM_004618.3	NP_004609.1	1	2	3	2.017774	Q13472	TOP3A_HUMAN		12	1614	-			A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	1	1	hg19	c.1400C>T	CCDS11194.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466920	0.63625	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.26957	1.7;1.7	5.72	5.72	0.89469	5.72	5.72	0.89469	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.099623	0.64402	D	0.000001	T	0.52725	0.1752	M	0.77712	2.385	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63283	0.913;0.859	T	0.51560	-0.8690	10	0.51188	T	0.08	-22.6968	19.8731	0.96858	0.0:0.0:1.0:0.0	.	372;467	B4DK80;Q13472	.;TOP3A_HUMAN	V	467;372	ENSP00000321636:A467V;ENSP00000442336:A372V	ENSP00000321636:A467V	A	-	2	0	0	TOP3A	18134948	18134948	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.829000	0.86735	2.699000	0.92147	0.563000	0.77884	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-16.985280	1	0.170000				38	38		259	253	1		1	1		0	0	83	0		1	9.922872e-01	0	12	0	42	0	38	259
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I363I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512																																						ENST00000321105.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1372-1374)atC>atT		topoisomerase (DNA) III alpha							128.0	120.0	123.0					17																	18194249		2203	4300	6503	SO:0001819	synonymous_variant	7156	2	121412	33				g.chr17:18194249G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1374C>T	chr17.hg19:g.18194249G>A		0					TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I363I	p.I458I	NM_004618.3	NP_004609.1	1	2	3	2.017774	Q13472	TOP3A_HUMAN		12	1588	-			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	1	1	hg19	c.1374C>T	CCDS11194.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				58	58		277	273	1		1	1		0	0	89	0		1	9.990141e-01	0	10	0	42	0	58	277
TOP3A	7156	broad.mit.edu	37	17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	338					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433																																						ENST00000321105.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1012-1014)cGa>cAa		topoisomerase (DNA) III alpha		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	96.0	100.0		1013	5.2	1.0	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	TOP3A	NM_004618.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	338/1002	18198077	1,13005	2203	4300	6503	SO:0001583	missense	7156	1	121410	24				g.chr17:18198077C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1013G>A	chr17.hg19:g.18198077C>T	ENSP00000321636:p.Arg338Gln	0					TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q	p.R338Q	NM_004618.3	NP_004609.1	1	2	3	2.017774	Q13472	TOP3A_HUMAN		10	1227	-			A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	1	1	hg19	c.1013G>A	CCDS11194.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669499	0.67814	2.27E-4	0.0	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.24538	1.85;1.85	5.25	5.25	0.73442	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66093	-0.6009	10	0.72032	D	0.01	-15.5167	19.1963	0.93690	0.0:1.0:0.0:0.0	.	243;338	B4DK80;Q13472	.;TOP3A_HUMAN	Q	338;243	ENSP00000321636:R338Q;ENSP00000442336:R243Q	ENSP00000321636:R338Q	R	-	2	0	0	TOP3A	18138802	18138802	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.692000	0.84203	2.610000	0.88304	0.591000	0.81541	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				60	56		213	207	1		1	1		0	0	54	0		1	9.995566e-01	0	14	0	30	0	60	213
SMCR8	140775	broad.mit.edu	37	17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	221						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463																																						ENST00000406438.3	1.000000	0.290000	8.600000e-01	4.100000e-01	0.580000	0.624546	0.580000	0.540000																										0				21						c.(661-663)Gac>Aac		Smith-Magenis syndrome chromosome region, candidate 8							61.0	58.0	59.0					17																	18219764		2203	4300	6503	SO:0001583	missense	140775	0	0					g.chr17:18219764G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.661G>A	chr17.hg19:g.18219764G>A	ENSP00000385025:p.Asp221Asn	0					TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	p.D221N	NM_144775.2	NP_658988.2	1	2	3	2.017774	Q8TEV9	SMCR8_HUMAN		1	1141	+			A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	1	1	hg19	c.661G>A	CCDS11195.2	0	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871235	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.116838	0.64402	D	0.000013	T	0.33177	0.0854	N	0.17082	0.46	0.40450	D	0.980134	D	0.57571	0.98	P	0.51999	0.687	T	0.02789	-1.1110	10	0.30854	T	0.27	-41.651	20.5568	0.99304	0.0:0.0:1.0:0.0	.	221	Q8TEV9	SMCR8_HUMAN	N	221	ENSP00000385025:D221N	ENSP00000385025:D221N	D	+	1	0	0	SMCR8	18160489	18160489	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.654000	0.67974	2.861000	0.98227	0.655000	0.94253	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-12.234650	1	0.170000	NM_144775			10	10		208	203	0		1	1		0	0	59	0		9.967137e-01	6.695241e-01	0	3	0	45	0	10	208
SMCR8	140775	broad.mit.edu	37	17	18219847	18219847	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	248						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498																																						ENST00000406438.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999933	0.990000	1.000000																										0				21						c.(742-744)gaC>gaT		Smith-Magenis syndrome chromosome region, candidate 8							71.0	56.0	61.0					17																	18219847		2203	4300	6503	SO:0001819	synonymous_variant	140775	0	0					g.chr17:18219847C>T	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.744C>T	chr17.hg19:g.18219847C>T		0					TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	p.D248D	NM_144775.2	NP_658988.2	1	2	3	2.017774	Q8TEV9	SMCR8_HUMAN		1	1224	+			A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	1	1	hg19	c.744C>T	CCDS11195.2	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	0		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_144775			32	32		188	186	1		1	1		0	0	78	0		1	9.733575e-01	0	9	0	28	0	32	188
SMCR8	140775	broad.mit.edu	37	17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A	rs565417602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	682						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562													G|||	3	0.000599042	0.0	0.0	5008	,	,		20595	0.0		0.0	False		,,,				2504	0.0031					ENST00000406438.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2044-2046)Gcg>Acg		Smith-Magenis syndrome chromosome region, candidate 8							74.0	72.0	72.0					17																	18221147		2203	4300	6503	SO:0001583	missense	140775	32	121412	45				g.chr17:18221147G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2044G>A	chr17.hg19:g.18221147G>A	ENSP00000385025:p.Ala682Thr	0					TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	p.A682T	NM_144775.2	NP_658988.2	1	2	3	2.017774	Q8TEV9	SMCR8_HUMAN		1	2524	+			A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	1	1	hg19	c.2044G>A	CCDS11195.2	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697484	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.44881	0.91	5.87	3.89	0.44902	5.87	3.89	0.44902	.	0.323922	0.33127	N	0.005241	T	0.26448	0.0646	N	0.19112	0.55	0.25367	N	0.988735	B	0.15141	0.012	B	0.12156	0.007	T	0.14476	-1.0471	10	0.30854	T	0.27	-7.5156	9.9537	0.41653	0.2648:0.0:0.7352:0.0	.	682	Q8TEV9	SMCR8_HUMAN	T	682	ENSP00000385025:A682T	ENSP00000385025:A682T	A	+	1	0	0	SMCR8	18161872	18161872	0.523000	0.26274	0.686000	0.30086	0.813000	0.45954	1.651000	0.37302	0.942000	0.37525	0.655000	0.94253	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_144775			58	57		248	241	1		1	1		0	0	51	0		1	9.997319e-01	0	12	0	43	0	58	248
SHMT1	6470	broad.mit.edu	37	17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S|SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	407					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502																																						ENST00000316694.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1219-1221)Gca>Tca		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)						47.0	49.0	48.0					17																	18232655		2203	4300	6503	SO:0001583	missense	6470	0	0					g.chr17:18232655C>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1219G>T	chr17.hg19:g.18232655C>A	ENSP00000318868:p.Ala407Ser	0					SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S	p.A407S	NM_004169.3	NP_004160.3	1	2	3	2.017774	P34896	GLYC_HUMAN		11	1353	-			B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	1	1	hg19	c.1219G>T	CCDS11196.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.519860	0.96416	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.55588	0.51;1.22;0.51;1.22	5.52	5.52	0.82312	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.988;1.0	D	0.83833	0.0253	10	0.87932	D	0	-14.926	19.7926	0.96466	0.0:1.0:0.0:0.0	.	368;407	P34896-2;P34896	.;GLYC_HUMAN	S	407;182;327;269;368	ENSP00000318868:A407S;ENSP00000345881:A327S;ENSP00000440089:A269S;ENSP00000318805:A368S	ENSP00000318868:A407S	A	-	1	0	0	SHMT1	18173380	18173380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.761000	0.94854	0.655000	0.94253	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_004169			53	52		159	156	1		1	1		0	0	43	0		1	1	0	32	0	85	0	53	159
TRIM16L	147166	broad.mit.edu	37	17	18638416	18638416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638416C>T	ENST00000449552.2	+	7	2174	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	230	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCCTGACCTGCAAAGGCATCG	0.572																																						ENST00000449552.2	1.000000	0.170000	6.600000e-01	2.400000e-01	0.340000	0.441409	0.340000	0.310000																										0				9						c.(688-690)tgC>tgT		tripartite motif containing 16-like							72.0	67.0	69.0					17																	18638416		2203	4300	6503	SO:0001819	synonymous_variant	147166	0	0					g.chr17:18638416C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.690C>T	chr17.hg19:g.18638416C>T		0					TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C	p.C230C			1	2	3	2.039724	Q309B1	TR16L_HUMAN		7	2174	+			A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	0	1	hg19	c.690C>T	CCDS32588.1	0																																																																																								1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	0	0	1		2	2	2	0		0	0	90		90	96	1	2.060000	-3.532810	1	0.170000	NM_001037330			11	11		409	401	0		1	0		0	0	90	0		9.981974e-01	2.923229e-01	0	1	0	37	0	11	409
TRIM16L	147166	broad.mit.edu	37	17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCTGGAGGCTCGGGGTCTA	0.517																																						ENST00000449552.2	1.000000	0.190000	6.700000e-01	2.600000e-01	0.360000	0.459676	0.360000	0.330000																										0				9						c.(835-837)Ctc>Ttc		tripartite motif containing 16-like							76.0	77.0	77.0					17																	18638561		2203	4300	6503	SO:0001583	missense	147166	0	0					g.chr17:18638561C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.835C>T	chr17.hg19:g.18638561C>T	ENSP00000461386:p.Leu279Phe	0					TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F	p.L279F			1	2	3	2.039724	Q309B1	TR16L_HUMAN		7	2319	+			A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	1	1	hg19	c.835C>T	CCDS32588.1	0	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534703	0.27475	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.70631	-0.5;-0.5;-0.5	3.35	2.36	0.29203	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.435857	0.21766	U	0.069431	T	0.70211	0.3198	L	0.35644	1.08	0.29799	N	0.832596	D;D;D	0.69078	0.976;0.997;0.976	P;D;P	0.63703	0.812;0.917;0.812	T	0.65080	-0.6255	10	0.87932	D	0	-11.0171	4.6322	0.12507	0.0:0.642:0.2274:0.1306	.	333;495;279	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	F	333;279;279	ENSP00000379239:L333F;ENSP00000379031:L279F;ENSP00000379030:L279F	ENSP00000379030:L279F	L	+	1	0	0	TRIM16L	18579286	18579286	1.000000	0.71417	0.682000	0.30024	0.073000	0.16967	1.577000	0.36515	0.599000	0.29845	0.194000	0.17425	CTC	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-11.873440	1	0.170000	NM_001037330			13	13		448	439	0		1	0		0	0	72	0		9.994829e-01	1.552658e-01	0	1	0	22	0	13	448
FBXW10	10517	broad.mit.edu	37	17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000395665.4	+	1	463	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000308799.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388																																						ENST00000395665.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.989740	0.990000	1.000000																										0				42						c.(241-243)cAg>cCg		F-box and WD repeat domain containing 10							82.0	87.0	85.0					17																	18647799		2201	4298	6499	SO:0001583	missense	10517	0	0					g.chr17:18647799A>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.242A>C	chr17.hg19:g.18647799A>C	ENSP00000379025:p.Gln81Pro	0					FBXW10_ENST00000308799.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P	p.Q81P			1	2	3	2.039724	Q5XX13	FBW10_HUMAN		1	463	+			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	1	1	hg19	c.242A>C	CCDS11199.3	1	.	.	.	.	.	.	.	.	.	.	a	4.933	0.173414	0.09391	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.31	0.808	0.18719	3.31	0.808	0.18719	.	0.228558	0.34986	U	0.003536	T	0.36193	0.0958	L	0.56769	1.78	0.19775	N	0.999955	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.78314	0.986;0.991;0.969;0.934	T	0.08953	-1.0697	10	0.44086	T	0.13	.	2.7706	0.05333	0.5002:0.0:0.1258:0.374	.	81;81;81;81	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	81	ENSP00000379026:Q81P;ENSP00000310382:Q81P;ENSP00000306937:Q81P;ENSP00000379025:Q81P	ENSP00000306937:Q81P	Q	+	2	0	0	FBXW10	18588524	18588524	0.930000	0.31532	0.877000	0.34402	0.921000	0.55340	1.512000	0.35812	0.372000	0.24591	0.333000	0.21579	CAG	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	0	0	1		2	2	2	0		0	0	129		129	164	1	2.060000	-16.804500	1	0.170000	NM_031456			59	45		572	477	0		1			0	0	129	0		1	0	0	0	0	0	0	59	572
FBXW10	10517	broad.mit.edu	37	17	18661780	18661780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18661780A>C	ENST00000395665.4	+	7	1616	c.1395A>C	c.(1393-1395)gaA>gaC	p.E465D	FBXW10_ENST00000301938.4_Missense_Mutation_p.E465D|FBXW10_ENST00000308799.4_Missense_Mutation_p.E494D|FBXW10_ENST00000395667.1_Missense_Mutation_p.E465D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	465										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGAGGAGGAAAACTTTCTCC	0.522																																						ENST00000395665.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1393-1395)gaA>gaC		F-box and WD repeat domain containing 10							31.0	29.0	30.0					17																	18661780		2133	4136	6269	SO:0001583	missense	10517	0	0					g.chr17:18661780A>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1395A>C	chr17.hg19:g.18661780A>C	ENSP00000379025:p.Glu465Asp	0					FBXW10_ENST00000308799.4_Missense_Mutation_p.E494D|FBXW10_ENST00000301938.4_Missense_Mutation_p.E465D|FBXW10_ENST00000395667.1_Missense_Mutation_p.E465D	p.E465D			1	2	3	2.039724	Q5XX13	FBW10_HUMAN		7	1616	+			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	1	0	hg19	c.1395A>C	CCDS11199.3	1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925282	0.34002	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	3.21	0.813	0.18749	3.21	0.813	0.18749	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.479158	0.20829	N	0.084938	T	0.06005	0.0156	N	0.05280	-0.08	0.19945	N	0.999943	B;B;B;B	0.20550	0.021;0.037;0.046;0.021	B;B;B;B	0.22601	0.013;0.024;0.04;0.013	T	0.39251	-0.9623	10	0.14252	T	0.57	.	4.199	0.10457	0.6564:0.2183:0.1253:0.0	.	465;494;465;465	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	D	465;494;465;465	ENSP00000379026:E465D;ENSP00000310382:E494D;ENSP00000306937:E465D;ENSP00000379025:E465D	ENSP00000306937:E465D	E	+	3	2	2	FBXW10	18602505	18602505	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	1.419000	0.34793	-0.044000	0.13491	0.333000	0.21579	GAA	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	1	0	1		2	2	2	0		0	0	33		33	79	1	2.060000	-20.000000	1	0.170000	NM_031456			31	28		120	99	0		1			0	0	33	0		1	0	0	0	0	0	0	31	120
FAM83G	644815	broad.mit.edu	37	17	18881119	18881119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	620					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667																																						ENST00000388995.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1858-1860)ttC>ttT		family with sequence similarity 83, member G							31.0	37.0	36.0					17																	18881119		2017	4177	6194	SO:0001819	synonymous_variant	644815	0	0					g.chr17:18881119G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1860C>T	chr17.hg19:g.18881119G>A		0					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron	p.F620F			1	2	3	2.039724	A6ND36	FA83G_HUMAN		5	2083	-			Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	1	1	hg19	c.1860C>T	CCDS42276.1	1																																																																																								1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				58	57		267	265	1		1	1		0	0	45	0		1	9.799554e-01	0	16	0	15	0	58	267
FAM83G	644815	broad.mit.edu	37	17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	578					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667																																						ENST00000388995.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1732-1734)gGg>gTg		family with sequence similarity 83, member G							47.0	54.0	52.0					17																	18881246		1990	4144	6134	SO:0001583	missense	644815	0	0					g.chr17:18881246C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1733G>T	chr17.hg19:g.18881246C>A	ENSP00000373647:p.Gly578Val	0					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron	p.G578V			1	2	3	2.039724	A6ND36	FA83G_HUMAN		5	1956	-			Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	1	1	hg19	c.1733G>T	CCDS42276.1	1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685496	0.14973	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.91	0.462	0.16695	5.91	0.462	0.16695	.	0.705821	0.14695	N	0.303887	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.10177	-1.0641	10	0.46703	T	0.11	-4.8825	8.4901	0.33095	0.0:0.4611:0.0:0.5389	.	578	A6ND36	FA83G_HUMAN	V	578	ENSP00000373647:G578V;ENSP00000343279:G578V	ENSP00000343279:G578V	G	-	2	0	0	FAM83G	18821971	18821971	0.000000	0.05858	0.002000	0.10522	0.316000	0.28119	0.073000	0.14640	0.225000	0.20959	0.655000	0.94253	GGG	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.930479	1	0.170000				111	107		506	499	1		1	1		0	0	103	0		1	9.997924e-01	0	32	0	26	0	111	506
FAM83G	644815	broad.mit.edu	37	17	18881682	18881682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	ENST00000388995.6	-	5	1520	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	433					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGTTGGGGTCGATGATATTG	0.612																																						ENST00000388995.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999231	0.990000	1.000000																										0				22						c.(1297-1299)Gac>Aac		family with sequence similarity 83, member G							22.0	27.0	25.0					17																	18881682		2111	4226	6337	SO:0001583	missense	644815	0	0					g.chr17:18881682C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1297G>A	chr17.hg19:g.18881682C>T	ENSP00000373647:p.Asp433Asn	0					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron	p.D433N			1	2	3	2.039724	A6ND36	FA83G_HUMAN		5	1520	-			Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	0	1	hg19	c.1297G>A	CCDS42276.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.249984	0.95305	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.20332	2.08;2.08	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.120838	0.56097	D	0.000038	T	0.49558	0.1564	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40997	-0.9533	10	0.45353	T	0.12	-40.7309	19.5945	0.95530	0.0:1.0:0.0:0.0	.	433	A6ND36	FA83G_HUMAN	N	433	ENSP00000373647:D433N;ENSP00000343279:D433N	ENSP00000343279:D433N	D	-	1	0	0	FAM83G	18822407	18822407	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	7.158000	0.77470	2.642000	0.89623	0.561000	0.74099	GAC	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-19.996030	1	0.170000				12	10		54	51	0		1	1		0	0	8	0		9.990538e-01	9.989539e-01	0	25	0	35	0	12	54
FAM83G	644815	broad.mit.edu	37	17	18881887	18881887	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	364					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637																																						ENST00000388995.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1090-1092)tcC>tcA		family with sequence similarity 83, member G							55.0	61.0	59.0					17																	18881887		1955	4151	6106	SO:0001819	synonymous_variant	644815	0	0					g.chr17:18881887G>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1092C>A	chr17.hg19:g.18881887G>T		0					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron	p.S364S			1	2	3	2.039724	A6ND36	FA83G_HUMAN		5	1315	-			Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	1	1	hg19	c.1092C>A	CCDS42276.1	1																																																																																								1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				69	69		296	293	1		1	1		0	0	76	0		1	9.962217e-01	0	14	0	25	0	69	296
FAM83G	644815	broad.mit.edu	37	17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T	rs563466170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	358					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18334	0.0		0.0	False		,,,				2504	0.0					ENST00000388995.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1072-1074)Gac>Aac		family with sequence similarity 83, member G							66.0	73.0	71.0					17																	18881907		1993	4158	6151	SO:0001583	missense	644815	6	120900	42				g.chr17:18881907C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1072G>A	chr17.hg19:g.18881907C>T	ENSP00000373647:p.Asp358Asn	0					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron	p.D358N			1	2	3	2.039724	A6ND36	FA83G_HUMAN		5	1295	-			Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	1	1	hg19	c.1072G>A	CCDS42276.1	1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156648	0.21454	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15256	2.44;2.44	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.316112	0.30593	N	0.009292	T	0.15478	0.0373	M	0.67953	2.075	0.25909	N	0.983255	P	0.48640	0.913	B	0.33121	0.158	T	0.34800	-0.9814	10	0.22706	T	0.39	-20.4086	12.4985	0.55942	0.0:0.9233:0.0:0.0767	.	358	A6ND36	FA83G_HUMAN	N	358	ENSP00000373647:D358N;ENSP00000343279:D358N	ENSP00000343279:D358N	D	-	1	0	0	FAM83G	18822632	18822632	0.990000	0.36364	0.082000	0.20525	0.045000	0.14185	2.671000	0.46842	2.537000	0.85549	0.491000	0.48974	GAC	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000				98	98		403	399	1		1	1		0	0	105	0		1	9.989258e-01	0	17	0	27	0	98	403
SLC5A10	125206	broad.mit.edu	37	17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000395645.3	+	11	1142	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A308V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					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)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672																																						ENST00000395645.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1123-1125)gCg>gTg		solute carrier family 5 (sodium/sugar cotransporter), member 10							60.0	49.0	53.0					17																	18918395		2203	4300	6503	SO:0001583	missense	125206	6	121412	37				g.chr17:18918395C>T		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.1124C>T	chr17.hg19:g.18918395C>T	ENSP00000379007:p.Ala375Val	0					SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A308V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V	p.A375V	NM_001042450.2	NP_001035915.1	1	2	3	2.039724	A0PJK1	SC5AA_HUMAN		11	1142	+			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	1	1	hg19	c.1124C>T	CCDS42275.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745205	0.89663	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.98;-3.31;-3.31	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.051109	0.85682	D	0.000000	D	0.97810	0.9281	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.992;0.994;0.997;0.998	P;P;P;P;P	0.62382	0.901;0.84;0.901;0.84;0.896	D	0.99441	1.0938	10	0.87932	D	0	.	18.1393	0.89634	0.0:1.0:0.0:0.0	.	339;348;375;391;308	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	V	308;391;308;339;375;348	ENSP00000324346:A308V;ENSP00000379008:A391V;ENSP00000379004:A308V;ENSP00000401875:A339V;ENSP00000379007:A375V;ENSP00000379005:A348V	ENSP00000324346:A308V	A	+	2	0	0	SLC5A10	18859120	18859120	1.000000	0.71417	0.991000	0.47740	0.400000	0.30750	7.647000	0.83462	2.448000	0.82819	0.561000	0.74099	GCG	1.845557e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.262578	1	0.170000	NM_152351			59	58		263	261	1		1			0	0	71	0		1	0	0	0	0	0	0	59	263
GRAP	10750	broad.mit.edu	37	17	18925281	18925281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000284154.5	-	5	1355	c.645G>A	c.(643-645)gtG>gtA	p.V215V	GRAP_ENST00000573099.1_Missense_Mutation_p.C159Y|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000395635.1_Silent_p.V186V	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	215	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652																																						ENST00000284154.5			0	0																														0				2						c.(643-645)gtG>gtA		GRB2-related adaptor protein							8.0	11.0	10.0					17																	18925281		2187	4286	6473	SO:0001819	synonymous_variant	10750	0	0					g.chr17:18925281C>T	U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"""SH2 domain containing"""	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.645G>A	chr17.hg19:g.18925281C>T							SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Missense_Mutation_p.C159Y|GRAP_ENST00000395635.1_Silent_p.V186V	p.V215V	NM_006613.3	NP_006604.1					Q13588	GRAP_HUMAN		5	1355	-	all_cancers(12;0.0183)			Silent	SNP	ENST00000284154.5	1	1	hg19	c.645G>A	CCDS11202.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.652	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_006613			16	16		73	72	1		1	0		0	0	17	0		9.999584e-01	4.524345e-01	0	0	0	8	0	16	73
MAPK7	5598	broad.mit.edu	37	17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	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)			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)					CAGCAGGTGGCCATCAAGAAG	0.522																																						ENST00000308406.5	1.000000	0.730000	1	8.700000e-01	0.990000	0.953036	0.990000	1.000000																										0				30						c.(244-246)gCc>gTc		mitogen-activated protein kinase 7							99.0	95.0	96.0					17																	19283107		2203	4300	6503	SO:0001583	missense	5598	1	121412	33				g.chr17:19283107C>T	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.245C>T	chr17.hg19:g.19283107C>T	ENSP00000311005:p.Ala82Val	0					B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V	p.A82V	NM_139033.2	NP_620602.2	1	2	3	2.015275	Q13164	MK07_HUMAN		3	631	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	1	1	hg19	c.245C>T	CCDS11206.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.103757	0.94245	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.17	4.17	0.49024	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89638	0.3860	10	0.87932	D	0	-16.6401	14.3915	0.66983	0.0:1.0:0.0:0.0	.	82	Q13164	MK07_HUMAN	V	82	ENSP00000311005:A82V;ENSP00000412902:A82V;ENSP00000378968:A82V;ENSP00000378966:A82V	ENSP00000311005:A82V	A	+	2	0	0	MAPK7	19223700	19223700	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.293000	0.78740	2.327000	0.79052	0.460000	0.39030	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	0		2	2	2	0		0	0	98		98	96	1	2.060000	-10.918110	1	0.170000	NM_139033			37	36		398	392	0		1	1		0	0	98	0		1	8.708807e-01	0	3	0	38	0	37	398
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Silent_p.F90F|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Silent_p.F90F|B9D1_ENST00000468679.3_5'Flank	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																																						ENST00000308406.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F90F(1)	large_intestine(1)	30						c.(268-270)ttC>ttT		mitogen-activated protein kinase 7							114.0	107.0	109.0					17																	19283132		2203	4300	6503	SO:0001819	synonymous_variant	5598	0	0					g.chr17:19283132C>T	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	chr17.hg19:g.19283132C>T		0					B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000395602.4_Silent_p.F90F	p.F90F	NM_139033.2	NP_620602.2	1	2	3	2.015275	Q13164	MK07_HUMAN		3	656	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	1	1	hg19	c.270C>T	CCDS11206.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	0		2	2	2	0		0	0	100		100	97	1	2.060000	-3.168748	1	0.170000	NM_139033			78	76		380	373	0		1	1		0	0	100	0		1	9.974661e-01	0	7	0	39	0	78	380
MAPK7	5598	broad.mit.edu	37	17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	488	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				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)			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)					AAGTCTTTGAGGAGCCGGCTC	0.572																																						ENST00000308406.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				30						c.(1462-1464)aGg>aTg		mitogen-activated protein kinase 7							26.0	29.0	28.0					17																	19284985		2203	4300	6503	SO:0001583	missense	5598	0	0					g.chr17:19284985G>T	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.1463G>T	chr17.hg19:g.19284985G>T	ENSP00000311005:p.Arg488Met	0					MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M	p.R488M	NM_139033.2	NP_620602.2	1	2	3	2.015275	Q13164	MK07_HUMAN		4	1849	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	1	1	hg19	c.1463G>T	CCDS11206.1	1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831813	0.16820	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76839	-0.76;-1.05;-0.76;-0.76	4.25	3.28	0.37604	4.25	3.28	0.37604	.	0.054356	0.64402	D	0.000001	T	0.80660	0.4665	L	0.40543	1.245	0.36651	D	0.877375	D	0.76494	0.999	D	0.74674	0.984	T	0.81874	-0.0732	10	0.44086	T	0.13	-18.1555	10.0352	0.42125	0.0997:0.0:0.9003:0.0	.	488	Q13164	MK07_HUMAN	M	488;349;488;488	ENSP00000311005:R488M;ENSP00000299612:R349M;ENSP00000378968:R488M;ENSP00000378966:R488M	ENSP00000299612:R349M	R	+	2	0	0	MAPK7	19225578	19225578	1.000000	0.71417	0.399000	0.26333	0.027000	0.11550	2.565000	0.45939	1.011000	0.39340	-0.254000	0.11334	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_139033			24	24		125	124	1		1	1		0	0	18	0		9.999998e-01	9.984702e-01	0	12	0	45	0	24	125
MAPK7	5598	broad.mit.edu	37	17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	744	May not be required for kinase activity; required to stimulate MEF2C activity. {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)			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)					CTACGGTGTTGGCTTTGACCT	0.577																																						ENST00000308406.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2230-2232)Ggc>Agc		mitogen-activated protein kinase 7							152.0	146.0	148.0					17																	19286192		2203	4300	6503	SO:0001583	missense	5598	0	0					g.chr17:19286192G>A	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.2230G>A	chr17.hg19:g.19286192G>A	ENSP00000311005:p.Gly744Ser	0					MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S	p.G744S	NM_139033.2	NP_620602.2	1	2	3	2.015275	Q13164	MK07_HUMAN		6	2616	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	1	1	hg19	c.2230G>A	CCDS11206.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.259303	0.95368	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.82526	-1.41;-1.62;-1.41;-1.41	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.90678	0.4603	10	0.87932	D	0	-27.6555	16.7641	0.85520	0.0:0.0:1.0:0.0	.	744	Q13164	MK07_HUMAN	S	744;605;744;744	ENSP00000311005:G744S;ENSP00000299612:G605S;ENSP00000378968:G744S;ENSP00000378966:G744S	ENSP00000299612:G605S	G	+	1	0	0	MAPK7	19226785	19226785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.830000	0.92063	2.565000	0.86533	0.491000	0.48974	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_139033			91	91		407	395	1		1	1		0	0	97	0		1	9.999999e-01	0	27	0	81	0	91	407
MAPK7	5598	broad.mit.edu	37	17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	813					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)			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)					CCTGCCTGACCTCCAGGACCC	0.597																																						ENST00000308406.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2437-2439)Ctc>Atc		mitogen-activated protein kinase 7							51.0	49.0	49.0					17																	19286530		2203	4300	6503	SO:0001583	missense	5598	0	0					g.chr17:19286530C>A	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.2437C>A	chr17.hg19:g.19286530C>A	ENSP00000311005:p.Leu813Ile	0					MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I	p.L813I	NM_139033.2	NP_620602.2	1	2	3	2.015275	Q13164	MK07_HUMAN		7	2823	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	1	1	hg19	c.2437C>A	CCDS11206.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182562	0.78677	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000022	T	0.82130	0.4970	L	0.54323	1.7	0.29680	N	0.841812	P	0.51057	0.941	P	0.49332	0.607	T	0.81733	-0.0798	10	0.87932	D	0	-18.1186	15.6104	0.76713	0.0:1.0:0.0:0.0	.	813	Q13164	MK07_HUMAN	I	813;674;813;813	ENSP00000311005:L813I;ENSP00000299612:L674I;ENSP00000378968:L813I;ENSP00000378966:L813I	ENSP00000299612:L674I	L	+	1	0	0	MAPK7	19227123	19227123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	2.269000	0.75478	0.491000	0.48974	CTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_139033			46	45		234	229	1		1	1		0	0	59	0		1	9.999990e-01	0	22	0	87	0	46	234
MFAP4	4239	broad.mit.edu	37	17	19287868	19287868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000299610.4	-	6	759	c.675C>T	c.(673-675)tcC>tcT	p.S225S	MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Silent_p.S249S	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	225	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567																																						ENST00000299610.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(673-675)tcC>tcT		microfibrillar-associated protein 4							45.0	45.0	45.0					17																	19287868		2203	4300	6503	SO:0001819	synonymous_variant	4239	0	0					g.chr17:19287868G>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.675C>T	chr17.hg19:g.19287868G>A		0					MFAP4_ENST00000395592.2_Silent_p.S249S|MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000574313.2_5'Flank	p.S225S	NM_002404.2	NP_002395.1	1	2	3	2.015275	P55083	MFAP4_HUMAN		6	759	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	1	1	hg19	c.675C>T	CCDS11208.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	1		2	2	2	0		0	0	31		31	28	1	2.060000	-20.000000	1	0.170000	NM_002404			35	33		136	126	0		1	0		0	0	31	0		1	1	0	1	0	419	0	35	136
MFAP4	4239	broad.mit.edu	37	17	19288434	19288434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000299610.4	-	5	582	c.498A>G	c.(496-498)gcA>gcG	p.A166A	MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Silent_p.A190A	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602																																						ENST00000299610.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(496-498)gcA>gcG		microfibrillar-associated protein 4							127.0	104.0	112.0					17																	19288434		2203	4300	6503	SO:0001819	synonymous_variant	4239	0	0					g.chr17:19288434T>C	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.498A>G	chr17.hg19:g.19288434T>C		0					MFAP4_ENST00000395592.2_Silent_p.A190A|MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000574313.2_5'Flank	p.A166A	NM_002404.2	NP_002395.1	1	2	3	2.015275	P55083	MFAP4_HUMAN		5	582	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	1	1	hg19	c.498A>G	CCDS11208.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	1		2	2	2	0		0	0	128		128	124	1	2.060000	-20.000000	1	0.170000	NM_002404			107	102		480	466	1		1	0		0	0	128	0		1	1	0	0	0	402	0	107	480
MFAP4	4239	broad.mit.edu	37	17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000299610.4	-	3	242	c.158G>A	c.(157-159)gGc>gAc	p.G53D	MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Missense_Mutation_p.G77D	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	53	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617																																						ENST00000299610.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(157-159)gGc>gAc		microfibrillar-associated protein 4							86.0	66.0	73.0					17																	19289705		2203	4300	6503	SO:0001583	missense	4239	0	0					g.chr17:19289705C>T	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.158G>A	chr17.hg19:g.19289705C>T	ENSP00000299610:p.Gly53Asp	0					MFAP4_ENST00000395592.2_Missense_Mutation_p.G77D|MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000574313.2_5'Flank	p.G53D	NM_002404.2	NP_002395.1	1	2	3	2.015275	P55083	MFAP4_HUMAN		3	242	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	1	1	hg19	c.158G>A	CCDS11208.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716638	0.89205	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	5.3	5.3	0.74995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000010	T	0.63189	0.2490	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66846	-0.5820	10	0.59425	D	0.04	.	16.5105	0.84283	0.0:1.0:0.0:0.0	.	53;77	P55083;A8MVM2	MFAP4_HUMAN;.	D	77;53	ENSP00000378957:G77D;ENSP00000299610:G53D	ENSP00000299610:G53D	G	-	2	0	0	MFAP4	19230298	19230298	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.083000	0.76859	2.499000	0.84300	0.555000	0.69702	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_002404			32	32		122	120	1		1	0		0	0	43	0		1	1	0	0	0	371	0	32	122
DPH1	1801	broad.mit.edu	37	17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	DPH1_ENST00000570477.1_Missense_Mutation_p.G215D|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	295					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592																																						ENST00000263083.6	1.000000	0.860000	1	9.900000e-01	0.990000	0.989448	0.990000	1.000000																										0				17						c.(883-885)gGc>gAc		diphthamide biosynthesis 1							55.0	56.0	56.0					17																	1943631		1970	4150	6120	SO:0001583	missense	1801	0	0					g.chr17:1943631G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.884G>A	chr17.hg19:g.1943631G>A	ENSP00000263083:p.Gly295Asp	0					OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	p.G295D	NM_001383.3	NP_001374.3	1	2	3	2.017774	Q9BZG8	DPH1_HUMAN		8	929	+			D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	1	1	hg19	c.884G>A	CCDS42228.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719372	0.89205	.	.	ENSG00000108963	ENST00000263083	T	0.54866	0.55	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.986	D	0.85799	0.1372	10	0.87932	D	0	-18.5475	17.1373	0.86743	0.0:0.0:1.0:0.0	.	305;305;295	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	D	295	ENSP00000263083:G295D	ENSP00000263083:G295D	G	+	2	0	0	DPH1	1890381	1890381	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.199000	0.72112	2.380000	0.81148	0.491000	0.48974	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_001383			43	43		398	394	1		1	1		0	0	88	0		1	9.932102e-01	0	14	0	59	0	43	398
DPH1	1801	broad.mit.edu	37	17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.3_ENST00000572790.1_lincRNA	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	314					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577																																						ENST00000263083.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(940-942)Cga>Tga		diphthamide biosynthesis 1							84.0	82.0	83.0					17																	1943817		2057	4212	6269	SO:0001587	stop_gained	1801	1	120994	34				g.chr17:1943817C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.940C>T	chr17.hg19:g.1943817C>T	ENSP00000263083:p.Arg314*	0					OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*|RP11-667K14.3_ENST00000572790.1_lincRNA	p.R314*	NM_001383.3	NP_001374.3	1	2	3	2.017774	Q9BZG8	DPH1_HUMAN		9	985	+			D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Nonsense_Mutation	SNP	ENST00000263083.6	0	1	hg19	c.940C>T	CCDS42228.1	1	.	.	.	.	.	.	.	.	.	.	C	40	7.956974	0.98580	.	.	ENSG00000108963	ENST00000263083	.	.	.	5.25	3.18	0.36537	5.25	3.18	0.36537	.	0.822586	0.11389	N	0.569013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	3.1253	9.3191	0.37952	0.1461:0.7767:0.0:0.0773	.	.	.	.	X	314	.	ENSP00000263083:R314X	R	+	1	2	2	DPH1	1890567	1890567	0.025000	0.19082	0.052000	0.19188	0.171000	0.22731	1.746000	0.38288	1.152000	0.42452	0.561000	0.74099	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.776913	1	0.170000	NM_001383			63	62		356	346	1		1	1		0	0	88	0		1	9.993910e-01	0	3	0	61	0	63	356
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR|RP11-667K14.3_ENST00000572790.1_lincRNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1	1.000000	0.380000	7.600000e-01	4.700000e-01	0.580000	0.623344	0.580000	0.560000																										0										c.(637-639)ccC>ccA		ovarian tumor suppressor candidate 2							70.0	78.0	76.0					17																	1946353		2203	4300	6503	SO:0001819	synonymous_variant	124641	18	121408	44				g.chr17:1946353C>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	chr17.hg19:g.1946353C>A		0		OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_3'UTR	p.P213P	NM_080822.2	NP_543012.1	1	2	3	2.017774	Q8WZ82	OVCA2_HUMAN		2	654	+			Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	1	1	hg19	c.639C>A	CCDS11015.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.681314	1	0.170000	NM_080822			25	25		502	490	0		1	1		0	0	104	0		9.999998e-01	9.999993e-01	0	39	0	431	0	25	502
HIC1	3090	broad.mit.edu	37	17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000322941.3	+	2	149	c.149T>C	c.(148-150)aTc>aCc	p.I50T	HIC1_ENST00000399849.3_Missense_Mutation_p.I31T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		TGCGACGTGATCATCGTGGTG	0.637																																						ENST00000322941.3	1.000000	0.160000	5.300000e-01	2.400000e-01	0.350000	0.418848	0.350000	0.320000																										0				3						c.(148-150)aTc>aCc		hypermethylated in cancer 1							37.0	40.0	39.0					17																	1960076		2146	4271	6417	SO:0001583	missense	3090	0	0					g.chr17:1960076T>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.149T>C	chr17.hg19:g.1960076T>C	ENSP00000314080:p.Ile50Thr	0					HIC1_ENST00000399849.3_Missense_Mutation_p.I31T	p.I50T	NM_001098202.1	NP_001091672.1	1	2	3	2.017774	Q14526	HIC1_HUMAN		2	149	+			D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	1	1	hg19	c.149T>C	CCDS42229.1	0	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019842	0.54576	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.62639	0.01;0.01	4.06	4.06	0.47325	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.43942	0.1270	N	0.11154	0.105	0.48511	D	0.999666	B	0.33883	0.43	B	0.35859	0.212	T	0.45673	-0.9245	9	0.38643	T	0.18	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	50	Q14526	HIC1_HUMAN	T	31;50	ENSP00000382742:I31T;ENSP00000314080:I50T	ENSP00000314080:I50T	I	+	2	0	0	HIC1	1906826	1906826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.706000	0.51276	0.459000	0.35465	ATC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	0	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-9.884333	1	0.170000	NM_006497			9	9		323	318	0		1	0		0	0	58	0		9.939761e-01	3.235181e-01	0	0	0	39	0	9	323
HIC1	3090	broad.mit.edu	37	17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000322941.3	+	2	236	c.236A>C	c.(235-237)gAc>gCc	p.D79A	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.D60A	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642																																						ENST00000322941.3	1.000000	0.710000	1	8.500000e-01	0.990000	0.948263	0.990000	1.000000																										0				3						c.(235-237)gAc>gCc		hypermethylated in cancer 1							43.0	46.0	45.0					17																	1960163		2157	4264	6421	SO:0001583	missense	3090	0	0					g.chr17:1960163A>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.236A>C	chr17.hg19:g.1960163A>C	ENSP00000314080:p.Asp79Ala	0					HIC1_ENST00000399849.3_Missense_Mutation_p.D60A|SMG6_ENST00000573166.1_5'Flank	p.D79A	NM_001098202.1	NP_001091672.1	1	2	3	2.017774	Q14526	HIC1_HUMAN		2	236	+			D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	1	1	hg19	c.236A>C	CCDS42229.1	1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473536	0.63737	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.23348	1.91;1.91	4.06	4.06	0.47325	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.47728	0.1461	M	0.67625	2.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51036	-0.8756	9	0.72032	D	0.01	.	12.8345	0.57765	1.0:0.0:0.0:0.0	.	79	Q14526	HIC1_HUMAN	A	60;79	ENSP00000382742:D60A;ENSP00000314080:D79A	ENSP00000314080:D79A	D	+	2	0	0	HIC1	1906913	1906913	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.895000	0.69814	1.706000	0.51276	0.459000	0.35465	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-10.608360	1	0.170000	NM_006497			33	33		358	356	0		1	0		0	0	79	0		1	9.466468e-01	0	0	0	55	0	33	358
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	rs377607213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662																																						ENST00000461366.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1237-1239)Gcc>Acc		ring finger protein 112		G	THR/ALA	1,3899		0,1,1949	26.0	31.0	29.0		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG		0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense	7732	4	120820	37				g.chr17:19318461G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	chr17.hg19:g.19318461G>A	ENSP00000454919:p.Ala413Thr	0					CTB-187M2.2_ENST00000579897.1_RNA	p.A413T	NM_007148.4	NP_009079.2	1	2	3	2.015275	Q9ULX5	RN112_HUMAN		11	1452	+			O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	1	1	hg19	c.1237G>A	CCDS58529.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-3.937340	1	0.170000	NM_007148			77	77		283	281	1		1	0		0	0	51	0		1	2.057694e-01	0	0	0	4	0	77	283
SLC47A2	146802	broad.mit.edu	37	17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000325411.5	-	2	256	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.S69L	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			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)	GAGGGTCACCGATGCCAGCTC	0.637																																						ENST00000325411.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(205-207)tCg>tTg		solute carrier family 47 (multidrug and toxin extrusion), member 2	Aciclovir(DB00787)						80.0	79.0	79.0					17																	19618448		2203	4300	6503	SO:0001583	missense	146802	3	121412	37				g.chr17:19618448G>A	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.206C>T	chr17.hg19:g.19618448G>A	ENSP00000326671:p.Ser69Leu	0					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.S69L	p.S69L	NM_152908.3	NP_690872.2	1	2	3	2.015275	Q86VL8	S47A2_HUMAN		2	256	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	1	1	hg19	c.206C>T	CCDS11211.1	1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108446	0.20714	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.508910	0.17472	U	0.173074	T	0.49081	0.1536	M	0.87547	2.89	0.09310	N	1	P;P;B	0.50528	0.936;0.936;0.41	P;P;B	0.48334	0.574;0.574;0.147	T	0.53585	-0.8418	10	0.87932	D	0	-7.3266	15.1595	0.72771	0.0:0.0:1.0:0.0	.	69;69;69	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	69;69;20;69	ENSP00000338084:S69L;ENSP00000326671:S69L;ENSP00000391848:S69L	ENSP00000326671:S69L	S	-	2	0	0	SLC47A2	19559040	19559040	0.107000	0.21998	0.004000	0.12327	0.274000	0.26718	3.066000	0.50002	2.252000	0.74401	0.305000	0.20034	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.402657	1	0.170000	NM_152908			90	89		403	402	1		1			0	0	76	0		1	0	0	0	0	0	0	90	403
SMG6	23293	broad.mit.edu	37	17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000263073.6	-	17	4060	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1337	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				45						c.(4009-4011)tCc>tTc		SMG6 nonsense mediated mRNA decay factor							54.0	50.0	51.0					17																	1968799		2203	4300	6503	SO:0001583	missense	23293	0	0					g.chr17:1968799G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4010C>T	chr17.hg19:g.1968799G>A	ENSP00000263073:p.Ser1337Phe	0					SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	p.S1337F	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		17	4060	-			B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	1	1	hg19	c.4010C>T	CCDS11016.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.093095	0.94149	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.8;2.8;1.99	5.56	5.56	0.83823	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55774	-0.8088	10	0.87932	D	0	-5.4885	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1337	Q86US8	EST1A_HUMAN	F	1337;1306;248;429	ENSP00000263073:S1337F;ENSP00000443920:S1306F;ENSP00000440283:S429F	ENSP00000263073:S1337F	S	-	2	0	0	SMG6	1915549	1915549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.430000	0.97488	2.640000	0.89533	0.655000	0.94253	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				32	31		137	134	1		1	1		0	0	31	0		1	9.999423e-01	0	18	0	51	0	32	137
ALDH3A1	218	broad.mit.edu	37	17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	324					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGGGGGTCCACGTCCGTGAGG	0.632																																						ENST00000457500.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				13						c.(970-972)Gtg>Atg		aldehyde dehydrogenase 3 family, member A1							42.0	40.0	41.0					17																	19642967		2203	4300	6503	SO:0001583	missense	218	1	121412	29				g.chr17:19642967C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.970G>A	chr17.hg19:g.19642967C>T	ENSP00000411821:p.Val324Met	0					ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron	p.V324M	NM_001135168.1	NP_001128640.1	1	2	3	2.015275	P30838	AL3A1_HUMAN		7	1299	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	1	1	hg19	c.970G>A	CCDS11212.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885704	0.91814	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.82	4.82	0.62117	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.122950	0.56097	D	0.000037	D	0.92273	0.7549	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	D	0.94413	0.7633	10	0.87932	D	0	-20.6296	16.9051	0.86124	0.0:1.0:0.0:0.0	.	324;441;324	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	324;382;324;324;251;324	ENSP00000225740:V324M;ENSP00000388469:V324M;ENSP00000411821:V324M;ENSP00000389766:V324M	ENSP00000225740:V324M	V	-	1	0	0	ALDH3A1	19583559	19583559	0.997000	0.39634	0.918000	0.36340	0.909000	0.53808	7.420000	0.80191	2.232000	0.73038	0.655000	0.94253	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_000691			26	26		134	133	1		1	1		0	0	38	0		1	9.999971e-01	0	59	0	54	0	26	134
AKAP10	11216	broad.mit.edu	37	17	19835269	19835269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	ENST00000225737.6	-	10	1647	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	497	RGS 2. {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)				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)					AAGATTGCTGGACAAAAAGCC	0.353																																						ENST00000225737.6	1.000000	0.250000	7.300000e-01	3.500000e-01	0.490000	0.546033	0.490000	0.460000																										0				21						c.(1489-1491)tCc>tTc		A kinase (PRKA) anchor protein 10							32.0	37.0	35.0					17																	19835269		2203	4300	6503	SO:0001583	missense	11216	0	0					g.chr17:19835269G>A	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.1490C>T	chr17.hg19:g.19835269G>A	ENSP00000225737:p.Ser497Phe	0					AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	p.S497F	NM_007202.3	NP_009133.2	1	2	3	2.015275	O43572	AKA10_HUMAN		10	1647	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	1	1	hg19	c.1490C>T	CCDS11214.1	0	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884801	0.91814	.	.	ENSG00000108599	ENST00000225737	T	0.22945	1.93	5.78	5.78	0.91487	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.40543	1.245	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	T	0.26744	-1.0094	10	0.72032	D	0.01	-7.8725	19.0829	0.93190	0.0:0.0:1.0:0.0	.	497	O43572	AKA10_HUMAN	F	497	ENSP00000225737:S497F	ENSP00000225737:S497F	S	-	2	0	0	AKAP10	19775861	19775861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.102000	0.94226	2.761000	0.94854	0.644000	0.83932	TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	0	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-11.704950	1	0.170000	NM_007202			10	10		246	240	0		1	0		0	0	33	0		9.966638e-01	2.576576e-01	0	0	0	23	0	10	246
AKAP10	11216	broad.mit.edu	37	17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000225737.6	-	3	306	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	50					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)				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)					TGGGGAATGTACGGATATTGA	0.358																																						ENST00000225737.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(148-150)gTa>gCa		A kinase (PRKA) anchor protein 10							98.0	94.0	96.0					17																	19866323		2203	4300	6503	SO:0001583	missense	11216	0	0					g.chr17:19866323A>G	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.149T>C	chr17.hg19:g.19866323A>G	ENSP00000225737:p.Val50Ala	0					AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	p.V50A	NM_007202.3	NP_009133.2	1	2	3	2.015275	O43572	AKA10_HUMAN		3	306	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	1	1	hg19	c.149T>C	CCDS11214.1	1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471731	0.26423	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.35421	1.31	5.87	3.66	0.41972	5.87	3.66	0.41972	.	0.219160	0.47852	N	0.000203	T	0.30727	0.0774	L	0.51422	1.61	0.23568	N	0.997396	B;B;B	0.34015	0.001;0.435;0.084	B;B;B	0.32762	0.002;0.152;0.03	T	0.14282	-1.0478	10	0.46703	T	0.11	-2.4956	9.4773	0.38880	0.857:0.0:0.143:0.0	.	50;50;50	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	A	50	ENSP00000225737:V50A	ENSP00000225737:V50A	V	-	2	0	0	AKAP10	19806915	19806915	1.000000	0.71417	0.918000	0.36340	0.886000	0.51366	3.067000	0.50010	0.483000	0.27608	-0.361000	0.07541	GTA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_007202			75	75		448	436	1		1	1		0	0	95	0		1	9.702142e-01	0	10	0	26	0	75	448
SMG6	23293	broad.mit.edu	37	17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000263073.6	-	13	3322	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P|SMG6_ENST00000536871.2_Missense_Mutation_p.L183P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1091					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3271-3273)cTg>cCg		SMG6 nonsense mediated mRNA decay factor							117.0	98.0	105.0					17																	2076037		2203	4300	6503	SO:0001583	missense	23293	0	0					g.chr17:2076037A>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3272T>C	chr17.hg19:g.2076037A>G	ENSP00000263073:p.Leu1091Pro	0					SMG6_ENST00000354901.4_Missense_Mutation_p.L183P|SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P	p.L1091P	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		13	3322	-			B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	1	1	hg19	c.3272T>C	CCDS11016.1	1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231593	0.58777	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.55413	0.52;0.52;0.52	6.02	4.95	0.65309	6.02	4.95	0.65309	.	0.090669	0.46145	D	0.000312	T	0.56307	0.1976	M	0.82323	2.585	0.80722	D	1	B	0.29162	0.235	B	0.29524	0.103	T	0.58951	-0.7545	10	0.87932	D	0	-5.0247	10.8308	0.46659	0.929:0.0:0.071:0.0	.	1091	Q86US8	EST1A_HUMAN	P	1091;1060;183	ENSP00000263073:L1091P;ENSP00000443920:L1060P;ENSP00000440283:L183P	ENSP00000263073:L1091P	L	-	2	0	0	SMG6	2022787	2022787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.128000	0.89595	1.108000	0.41662	0.448000	0.29417	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				62	60		319	308	1		1	1		0	0	82	0		1	9.996616e-01	0	25	0	38	0	62	319
LGALS9B	284194	broad.mit.edu	37	17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	263	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577																																						ENST00000423676.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(787-789)agC>agA		lectin, galactoside-binding, soluble, 9B							70.0	66.0	67.0					17																	20354929		2202	4299	6501	SO:0001583	missense	284194	0	0					g.chr17:20354929G>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.789C>A	chr17.hg19:g.20354929G>T	ENSP00000388841:p.Ser263Arg	0					LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R	p.S263R			1	2	3	2.015275	Q3B8N2	LEG9B_HUMAN		10	852	-			A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	1	1	hg19	c.789C>A		1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029124	0.19512	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.871	0.19107	1.97	0.871	0.19107	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.866267	0.10476	N	0.670136	T	0.46073	0.1374	M	0.72353	2.195	0.27223	N	0.959618	B;B	0.27853	0.122;0.191	B;B	0.34452	0.183;0.098	T	0.50145	-0.8862	9	0.56958	D	0.05	.	4.1324	0.10156	0.6148:0.0:0.3852:0.0	.	263;262	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	262;263	.	ENSP00000315564:S263R	S	-	3	2	2	LGALS9B	20295521	20295521	0.000000	0.05858	0.993000	0.49108	0.611000	0.37282	-0.391000	0.07323	0.239000	0.21243	0.194000	0.17425	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	1	0	1		2	2	2	0		0	0	87		87	115	1	2.060000	-20.000000	1	0.170000	NM_001042685			76	69		346	318	0		1			0	0	87	0		1	0	0	0	0	0	0	76	346
KCNJ12	3768	broad.mit.edu	37	17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	53					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AATGGCCAGTGCAACATTGAG	0.602										Prostate(3;0.18)																												ENST00000583088.1	1.000000	0.350000	8.200000e-01	4.600000e-01	0.600000	0.639643	0.600000	0.570000																										0				70						c.(157-159)tGc>tAc		potassium inwardly-rectifying channel, subfamily J, member 12	Dofetilide(DB00204)|Yohimbine(DB01392)						181.0	123.0	143.0					17																	21318812		2203	4300	6503	SO:0001583	missense	3768	0	0					g.chr17:21318812G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.158G>A	chr17.hg19:g.21318812G>A	ENSP00000463778:p.Cys53Tyr	0	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	p.C53Y	NM_021012.4	NP_066292.2	1	2	3	2.015275	Q14500	KCJ12_HUMAN		3	1053	+			O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	1	1	hg19	c.158G>A	CCDS11219.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267354	0.80469	.	.	ENSG00000184185	ENST00000331718	D	0.95482	-3.72	5.33	5.33	0.75918	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	53	Q14500	IRK12_HUMAN	Y	53	ENSP00000328150:C53Y	ENSP00000328150:C53Y	C	+	2	0	0	KCNJ12	21259405	21259405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-18.259490	1	0.170000	NM_021012			17	16		332	330	0		1	0		0	0	60	0		9.999655e-01	7.946143e-03	0	0	0	3	0	17	332
SMG6	23293	broad.mit.edu	37	17	2139876	2139876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000263073.6	-	10	2829	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	SMG6_ENST00000544865.1_Silent_p.L896L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000354901.4_Silent_p.L19L|SMG6_ENST00000536871.2_Silent_p.L19L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	927					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2779-2781)Ctg>Ttg		SMG6 nonsense mediated mRNA decay factor							157.0	128.0	138.0					17																	2139876		2203	4300	6503	SO:0001819	synonymous_variant	23293	0	0					g.chr17:2139876G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2779C>T	chr17.hg19:g.2139876G>A		0					SMG6_ENST00000354901.4_Silent_p.L19L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000544865.1_Silent_p.L896L	p.L927L	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		10	2829	-			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	1	1	hg19	c.2779C>T	CCDS11016.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-3.235289	1	0.170000				75	72		337	326	1		1	1		0	0	76	0		1	9.989097e-01	0	13	0	35	0	75	337
SMG6	23293	broad.mit.edu	37	17	2139898	2139898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000263073.6	-	10	2807	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	SMG6_ENST00000544865.1_Silent_p.V888V|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000354901.4_Silent_p.V11V|SMG6_ENST00000536871.2_Silent_p.V11V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	919					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2755-2757)gtC>gtT		SMG6 nonsense mediated mRNA decay factor							133.0	110.0	118.0					17																	2139898		2203	4300	6503	SO:0001819	synonymous_variant	23293	0	0					g.chr17:2139898G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2757C>T	chr17.hg19:g.2139898G>A		0					SMG6_ENST00000354901.4_Silent_p.V11V|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000544865.1_Silent_p.V888V	p.V919V	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		10	2807	-			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	1	1	hg19	c.2757C>T	CCDS11016.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-3.321655	1	0.170000				70	65		298	285	1		1	1		0	0	69	0		1	9.998040e-01	0	11	0	45	0	70	298
SMG6	23293	broad.mit.edu	37	17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000263073.6	-	2	1378	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	443	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1327-1329)tCt>tAt		SMG6 nonsense mediated mRNA decay factor							97.0	109.0	105.0					17																	2202719		2203	4300	6503	SO:0001583	missense	23293	0	0					g.chr17:2202719G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1328C>A	chr17.hg19:g.2202719G>T	ENSP00000263073:p.Ser443Tyr	0					SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	p.S443Y	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		2	1378	-			B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	1	1	hg19	c.1328C>A	CCDS11016.1	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001912	0.54254	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09538	2.97;2.97	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.498560	0.22116	N	0.064408	T	0.08802	0.0218	N	0.19112	0.55	0.26833	N	0.968548	P	0.36789	0.57	B	0.36885	0.235	T	0.18681	-1.0329	10	0.66056	D	0.02	-3.384	12.7756	0.57445	0.0749:0.0:0.9251:0.0	.	443	Q86US8	EST1A_HUMAN	Y	443;412	ENSP00000263073:S443Y;ENSP00000443920:S412Y	ENSP00000263073:S443Y	S	-	2	0	0	SMG6	2149469	2149469	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.268000	0.58883	2.592000	0.87571	0.650000	0.86243	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	0		2	2	2	0		0	0	189		189	186	1	2.060000	-20.000000	1	0.170000				145	140		797	775	1		1	1		0	0	189	0		1	9.704590e-01	0	10	0	23	0	145	797
SMG6	23293	broad.mit.edu	37	17	2202763	2202763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000263073.6	-	2	1334	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_ENST00000544865.1_Silent_p.A397A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	428	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1282-1284)gcG>gcA		SMG6 nonsense mediated mRNA decay factor							81.0	91.0	87.0					17																	2202763		2203	4300	6503	SO:0001819	synonymous_variant	23293	1	121412	38				g.chr17:2202763C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1284G>A	chr17.hg19:g.2202763C>T		0					SMG6_ENST00000544865.1_Silent_p.A397A	p.A428A	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		2	1334	-			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	1	1	hg19	c.1284G>A	CCDS11016.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	0		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000				115	109		573	560	1		1	1		0	0	149	0		1	9.999679e-01	0	22	0	53	0	115	573
SMG6	23293	broad.mit.edu	37	17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000263073.6	-	2	172	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	41	EJC-binding motif 1; mediates interaction with the EJC.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTATCTTTGCGCGGCCTGGC	0.473																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000263073.6	1.000000	0.460000	9.100000e-01	5.700000e-01	0.700000	0.729040	0.700000	0.680000																										0				45						c.(121-123)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							51.0	54.0	53.0					17																	2203925		2202	4300	6502	SO:0001583	missense	23293	1	121388	30				g.chr17:2203925C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.122G>A	chr17.hg19:g.2203925C>T	ENSP00000263073:p.Arg41His	0					SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	p.R41H	NM_017575.4	NP_060045.4	1	2	3	2.017774	Q86US8	EST1A_HUMAN		2	172	-			B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	1	1	hg19	c.122G>A	CCDS11016.1	0	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275492	0.59649	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13089	2.84;2.62	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.132986	0.49916	D	0.000140	T	0.29256	0.0728	L	0.34521	1.04	0.41999	D	0.990885	D	0.89917	1.0	D	0.83275	0.996	T	0.01169	-1.1430	10	0.39692	T	0.17	-4.384	19.3907	0.94581	0.0:1.0:0.0:0.0	.	41	Q86US8	EST1A_HUMAN	H	41;10	ENSP00000263073:R41H;ENSP00000443920:R10H	ENSP00000263073:R41H	R	-	2	0	0	SMG6	2150675	2150675	0.998000	0.40836	0.999000	0.59377	0.925000	0.55904	4.288000	0.59007	2.569000	0.86673	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.142767	1	0.170000				25	24		411	400	0		1	0		0	0	60	0		9.999998e-01	5.134317e-01	0	1	0	28	0	25	411
SRR	63826	broad.mit.edu	37	17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	190					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	AGGAGGAATGCTTGCTGGAAT	0.388																																						ENST00000344595.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(568-570)Ctt>Att		serine racemase	L-Serine(DB00133)						106.0	101.0	103.0					17																	2224884		2203	4300	6503	SO:0001583	missense	63826	0	0					g.chr17:2224884C>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.568C>A	chr17.hg19:g.2224884C>A	ENSP00000339435:p.Leu190Ile	0					SRR_ENST00000576848.1_Intron	p.L190I	NM_021947.1	NP_068766.1	1	2	3	2.017774	Q9GZT4	SRR_HUMAN		6	886	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	1	1	hg19	c.568C>A	CCDS11017.1	1	.	.	.	.	.	.	.	.	.	.	c	2.749	-0.260449	0.05791	.	.	ENSG00000167720	ENST00000344595	D	0.96396	-4.0	5.95	-4.59	0.03400	5.95	-4.59	0.03400	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.777035	0.12313	N	0.479999	D	0.83917	0.5358	N	0.03194	-0.395	0.20638	N	0.999872	B	0.02656	0.0	B	0.14578	0.011	T	0.78357	-0.2235	10	0.02654	T	1	1.469	7.3126	0.26483	0.401:0.2808:0.3182:0.0	.	190	Q9GZT4	SRR_HUMAN	I	190	ENSP00000339435:L190I	ENSP00000339435:L190I	L	+	1	0	0	SRR	2171634	2171634	0.167000	0.22975	0.866000	0.34008	0.944000	0.59088	-0.865000	0.04250	-0.596000	0.05821	-2.134000	0.00341	CTT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-19.999850	1	0.170000	NM_021947			48	46		258	258	1		1	1		0	0	51	0		1	9.997476e-01	0	16	0	53	0	48	258
SRR	63826	broad.mit.edu	37	17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	SRR_ENST00000576848.1_Missense_Mutation_p.A11V|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	237					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	GAAACCATAGCAGATGGTGTC	0.463																																						ENST00000344595.5	1.000000	0.180000	4.400000e-01	2.400000e-01	0.310000	0.386844	0.310000	0.300000																										0				8						c.(709-711)gCa>gTa		serine racemase	L-Serine(DB00133)						157.0	146.0	149.0					17																	2226545		2203	4300	6503	SO:0001583	missense	63826	0	0					g.chr17:2226545C>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.710C>T	chr17.hg19:g.2226545C>T	ENSP00000339435:p.Ala237Val	0					TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A11V	p.A237V	NM_021947.1	NP_068766.1	1	2	3	2.017774	Q9GZT4	SRR_HUMAN		7	1028	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	1	1	hg19	c.710C>T	CCDS11017.1	0	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694601	0.88830	.	.	ENSG00000167720	ENST00000344595	D	0.97455	-4.39	5.88	5.88	0.94601	5.88	5.88	0.94601	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.224065	0.47455	N	0.000236	D	0.98704	0.9565	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.99421	1.0933	10	0.87932	D	0	-23.5163	19.2253	0.93816	0.0:1.0:0.0:0.0	.	237	Q9GZT4	SRR_HUMAN	V	237	ENSP00000339435:A237V	ENSP00000339435:A237V	A	+	2	0	0	SRR	2173295	2173295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.992000	0.63889	2.788000	0.95919	0.555000	0.69702	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	0	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-2.983866	1	0.170000	NM_021947			17	17		655	640	0		1	1		0	0	110	0		9.999577e-01	9.489007e-01	0	9	0	184	0	17	655
SRR	63826	broad.mit.edu	37	17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	SRR_ENST00000576848.1_Missense_Mutation_p.A60T|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	286					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TGAACCTACAGCTGGTGTTGG	0.453																																						ENST00000344595.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(856-858)Gct>Act		serine racemase	L-Serine(DB00133)						122.0	105.0	111.0					17																	2227000		2203	4300	6503	SO:0001583	missense	63826	0	0					g.chr17:2227000G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.856G>A	chr17.hg19:g.2227000G>A	ENSP00000339435:p.Ala286Thr	0					TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A60T	p.A286T	NM_021947.1	NP_068766.1	1	2	3	2.017774	Q9GZT4	SRR_HUMAN		8	1174	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	1	1	hg19	c.856G>A	CCDS11017.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181429	0.78677	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.52	5.52	0.82312	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052350	0.85682	D	0.000000	D	0.97885	0.9305	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.98579	1.0649	10	0.87932	D	0	-3.5344	18.4444	0.90678	0.0:0.0:1.0:0.0	.	286	Q9GZT4	SRR_HUMAN	T	286	ENSP00000339435:A286T	ENSP00000339435:A286T	A	+	1	0	0	SRR	2173750	2173750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.267000	0.72546	2.602000	0.87976	0.557000	0.71058	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_021947			44	43		199	195	1		1	1		0	0	45	0		1	1	0	47	0	102	0	44	199
SGSM2	9905	broad.mit.edu	37	17	2265527	2265527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2265527C>A	ENST00000426855.2	+	4	596	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M|SGSM2_ENST00000268989.3_Missense_Mutation_p.L141M	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	141	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGAGAAAGTTCTGGACAAGGT	0.627																																						ENST00000426855.2	1.000000	0.190000	4.700000e-01	2.600000e-01	0.340000	0.409322	0.340000	0.320000																										0				20						c.(421-423)Ctg>Atg		small G protein signaling modulator 2							93.0	94.0	94.0					17																	2265527		2203	4300	6503	SO:0001583	missense	9905	0	0					g.chr17:2265527C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.421C>A	chr17.hg19:g.2265527C>A	ENSP00000415107:p.Leu141Met	0					SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M|SGSM2_ENST00000268989.3_Missense_Mutation_p.L141M	p.L141M	NM_001098509.1	NP_001091979.1	1	2	3	2.017774	O43147	SGSM2_HUMAN		4	596	+			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	1	1	hg19	c.421C>A	CCDS45570.1	0	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612666	0.28712	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.67523	-0.27;-0.27	4.67	3.67	0.42095	4.67	3.67	0.42095	RUN (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73319	2.225	0.80722	D	1	P;B;B	0.43662	0.814;0.359;0.421	B;B;B	0.44133	0.41;0.442;0.176	T	0.71560	-0.4556	10	0.87932	D	0	-6.9354	11.3737	0.49715	0.0:0.9069:0.0:0.0931	.	141;141;141	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	M	141	ENSP00000268989:L141M;ENSP00000415107:L141M	ENSP00000268989:L141M	L	+	1	2	2	SGSM2	2212277	2212277	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.664000	0.46783	1.028000	0.39785	0.205000	0.17691	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.446087	1	0.170000	NM_014853			17	17		605	593	0		1	0		0	0	101	0		9.999591e-01	2.574216e-01	0	0	0	34	0	17	605
SGSM2	9905	broad.mit.edu	37	17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000426855.2	+	21	2878	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	901	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537																																						ENST00000426855.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2701-2703)caG>caT		small G protein signaling modulator 2							218.0	183.0	195.0					17																	2281186		2203	4300	6503	SO:0001583	missense	9905	0	0					g.chr17:2281186G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2703G>T	chr17.hg19:g.2281186G>T	ENSP00000415107:p.Gln901His	0					RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H	p.Q901H	NM_001098509.1	NP_001091979.1	1	2	3	2.017774	O43147	SGSM2_HUMAN		21	2878	+			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	1	1	hg19	c.2703G>T	CCDS45570.1	1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.841965	0.51057	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.23147	1.92;1.92	6.04	3.73	0.42828	6.04	3.73	0.42828	Rab-GAP/TBC domain (5);	0.216848	0.49305	D	0.000150	T	0.46833	0.1413	M	0.75447	2.3	0.47862	D	0.999531	D;D;D;D	0.69078	0.997;0.984;0.984;0.98	D;P;P;P	0.71414	0.973;0.876;0.876;0.844	T	0.48927	-0.8991	10	0.72032	D	0.01	-5.6589	9.9037	0.41364	0.2421:0.0:0.7579:0.0	.	901;901;901;946	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	946;901	ENSP00000268989:Q946H;ENSP00000415107:Q901H	ENSP00000268989:Q946H	Q	+	3	2	2	SGSM2	2227936	2227936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.766000	0.47629	1.542000	0.49330	0.651000	0.88453	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_014853			69	68		385	379	1		1	1		0	0	94	0		1	9.973817e-01	0	4	0	48	0	69	385
SGSM2	9905	broad.mit.edu	37	17	2282335	2282335	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	ENST00000426855.2	+	22	2945	c.2770C>T	c.(2770-2772)Ctg>Ttg	p.L924L	RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Silent_p.L924L|SGSM2_ENST00000268989.3_Silent_p.L969L|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	924	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCAGAACTGCTGTATGAGGA	0.607																																						ENST00000426855.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998011	0.990000	1.000000																										0				20						c.(2770-2772)Ctg>Ttg		small G protein signaling modulator 2							131.0	92.0	105.0					17																	2282335		2203	4300	6503	SO:0001819	synonymous_variant	9905	0	0					g.chr17:2282335C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2770C>T	chr17.hg19:g.2282335C>T		0					RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Silent_p.L924L|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L969L	p.L924L	NM_001098509.1	NP_001091979.1	1	2	3	2.017774	O43147	SGSM2_HUMAN		22	2945	+			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	0	1	hg19	c.2770C>T	CCDS45570.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_014853			18	17		115	114	0		1	1		0	0	39	0		9.999867e-01	9.754366e-01	0	8	0	34	0	18	115
SGSM2	9905	broad.mit.edu	37	17	2282760	2282760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000426855.2	+	23	3142	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Intron|SGSM2_ENST00000268989.3_Silent_p.L1034L|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	989					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622																																						ENST00000426855.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				20						c.(2965-2967)ctG>ctA		small G protein signaling modulator 2							59.0	49.0	53.0					17																	2282760		2203	4300	6503	SO:0001819	synonymous_variant	9905	0	0					g.chr17:2282760G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2967G>A	chr17.hg19:g.2282760G>A		0					RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Intron|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L1034L	p.L989L	NM_001098509.1	NP_001091979.1	1	2	3	2.017774	O43147	SGSM2_HUMAN		23	3142	+			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	1	0	hg19	c.2967G>A	CCDS45570.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_014853			29	29		134	133	1		1	0		0	0	42	0		1	9.801706e-01	0	1	0	31	0	29	134
PAFAH1B1	5048	broad.mit.edu	37	17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463																																						ENST00000397195.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(649-651)Aaa>Caa		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							97.0	89.0	92.0					17																	2576029		2203	4300	6503	SO:0001583	missense	5048	0	0					g.chr17:2576029A>C	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.649A>C	chr17.hg19:g.2576029A>C	ENSP00000380378:p.Lys217Gln	0					PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	p.K217Q	NM_000430.3	NP_000421.1	1	2	3	2.017774				7	1100	+				Missense_Mutation	SNP	ENST00000397195.5	1	1	hg19	c.649A>C	CCDS32528.1	1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567297	0.86439	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	4.92	4.92	0.64577	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	T	0.80869	0.4706	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.83554	0.0103	10	0.87932	D	0	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	46;217	B4DF38;P43034	.;LIS1_HUMAN	Q	217;46;46	ENSP00000380378:K217Q;ENSP00000395628:K46Q	ENSP00000380377:K46Q	K	+	1	0	0	PAFAH1B1	2522779	2522779	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_000430			50	49		189	186	1		1	1		0	0	43	0		1	1	0	133	0	274	0	50	189
KCNJ12	3768	broad.mit.edu	37	17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	216					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGGCGTGTGGGTAACCTGCG	0.642										Prostate(3;0.18)																												ENST00000583088.1	1.000000	0.620000	1	7.600000e-01	0.920000	0.896065	0.920000	1.000000																										0				70						c.(646-648)Ggt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 12	Dofetilide(DB00204)|Yohimbine(DB01392)						87.0	72.0	77.0					17																	21319300		2203	4300	6503	SO:0001583	missense	3768	3	121410	29				g.chr17:21319300G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.646G>T	chr17.hg19:g.21319300G>T	ENSP00000463778:p.Gly216Cys	0	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	p.G216C	NM_021012.4	NP_066292.2	1	2	3	2.015275	Q14500	KCJ12_HUMAN		3	1541	+			O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	1	1	hg19	c.646G>T	CCDS11219.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383461	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.95622	-3.76	5.32	5.32	0.75619	5.32	5.32	0.75619	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	0.97607	0.9216	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98276	1.0506	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	216	Q14500	IRK12_HUMAN	C	216	ENSP00000328150:G216C	ENSP00000328150:G216C	G	+	1	0	0	KCNJ12	21259893	21259893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.142703	1	0.170000	NM_021012			29	29		353	339	0		1			0	0	72	0		1	0	0	0	0	0	0	29	353
KSR1	8844	broad.mit.edu	37	17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000319524.6	+	4	691	c.691T>C	c.(691-693)Tca>Cca	p.S231P	KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000398988.3_Missense_Mutation_p.S94P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	231					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(691-693)Tca>Cca		kinase suppressor of ras 1							24.0	30.0	28.0					17																	25909842		2098	4216	6314	SO:0001583	missense	8844	0	0					g.chr17:25909842T>C	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.691T>C	chr17.hg19:g.25909842T>C	ENSP00000323178:p.Ser231Pro	0					KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000398988.3_Missense_Mutation_p.S94P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P	p.S231P			1	2	3	2.015275	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	4	691	+	Lung NSC(42;0.00836)		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	1	1	hg19	c.691T>C		1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106036	0.37145	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.124970	0.56097	D	0.000026	T	0.00845	0.0028	L	0.46157	1.445	0.41067	D	0.985425	D	0.65815	0.995	P	0.60345	0.873	D	0.87448	0.2399	10	0.26408	T	0.33	.	14.7786	0.69749	0.0:0.0:0.0:1.0	.	229	Q8IVT5	KSR1_HUMAN	P	231;231;94;94	ENSP00000323178:S231P;ENSP00000438795:S231P;ENSP00000268763:S94P	ENSP00000268763:S94P	S	+	1	0	0	KSR1	22933969	22933969	1.000000	0.71417	0.998000	0.56505	0.165000	0.22458	3.373000	0.52394	2.176000	0.68965	0.374000	0.22700	TCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_014238			36	36		142	137	1		1	0		0	0	32	0		1	7.313018e-01	0	1	0	11	0	36	142
KSR1	8844	broad.mit.edu	37	17	25917918	25917918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000319524.6	+	7	1128	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000398988.3_Silent_p.C239C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	376					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				28						c.(1126-1128)tgC>tgT		kinase suppressor of ras 1							43.0	44.0	44.0					17																	25917918		2005	4184	6189	SO:0001819	synonymous_variant	8844	0	0					g.chr17:25917918C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1128C>T	chr17.hg19:g.25917918C>T		0					KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000398988.3_Silent_p.C239C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR	p.C376C			1	2	3	2.015275	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	7	1128	+	Lung NSC(42;0.00836)		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	1	1	hg19	c.1128C>T		1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.795145	0.50208	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5611	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	.	Q	+	1	0	0	KSR1	22942045	22942045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.621000	0.54210	2.647000	0.89833	0.486000	0.48141	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_014238			18	16		70	70	0		1	0		0	0	16	0		9.999882e-01	9.099223e-01	0	1	0	18	0	18	70
KSR1	8844	broad.mit.edu	37	17	25932780	25932780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000319524.6	+	15	2001	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000398988.3_Silent_p.E530E|KSR1_ENST00000268763.6_Silent_p.E530E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				28						c.(1999-2001)gaG>gaA		kinase suppressor of ras 1							20.0	22.0	21.0					17																	25932780		2044	4187	6231	SO:0001819	synonymous_variant	8844	0	0					g.chr17:25932780G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2001G>A	chr17.hg19:g.25932780G>A		0					KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000398988.3_Silent_p.E530E|KSR1_ENST00000268763.6_Silent_p.E530E	p.E667E			1	2	3	2.015275	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	15	2001	+	Lung NSC(42;0.00836)		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	1	1	hg19	c.2001G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919764	0.17982	.	.	ENSG00000141068	ENST00000398988	T	0.79454	-1.27	5.67	3.7	0.42460	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66019	-0.6027	7	0.18710	T	0.47	.	11.3617	0.49646	0.1457:0.0:0.8543:0.0	.	.	.	.	K	381	ENSP00000381958:E381K	ENSP00000381958:E381K	E	+	1	0	0	KSR1	22956907	22956907	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.664000	0.68045	0.768000	0.33290	-0.140000	0.14226	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_014238			26	26		119	114	1		1	0		0	0	27	0		9.999999e-01	5.080845e-01	0	1	0	8	0	26	119
KSR1	8844	broad.mit.edu	37	17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000319524.6	+	17	2197	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	KSR1_ENST00000582410.1_5'Flank|KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000398988.3_Missense_Mutation_p.D596Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2197-2199)Gat>Tat		kinase suppressor of ras 1							116.0	114.0	115.0					17																	25936261		2021	4201	6222	SO:0001583	missense	8844	0	0					g.chr17:25936261G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2197G>T	chr17.hg19:g.25936261G>T	ENSP00000323178:p.Asp733Tyr	0					KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000398988.3_Missense_Mutation_p.D596Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000582410.1_5'Flank	p.D733Y			1	2	3	2.015275	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	17	2197	+	Lung NSC(42;0.00836)		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	1	1	hg19	c.2197G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924694|4.924694	0.92319|0.92319	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.82|5.82	5.82|5.82	0.92795|0.92795	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91620|0.91620	0.7352|0.7352	H|H	0.99325|0.99325	4.515|4.515	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	0.94688|0.94688	0.7871|0.7871	10|5	0.87932|.	D|.	0|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	731;711|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Y|I	733;711;596;596|446	ENSP00000323178:D733Y;ENSP00000438795:D711Y;ENSP00000268763:D596Y|.	ENSP00000268763:D596Y|.	D|R	+|+	1|2	0|0	0|0	KSR1|KSR1	22960388|22960388	22960388|22960388	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.724000|9.724000	0.98775|0.98775	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAT|AGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_014238			46	45		237	230	0		1	0		0	0	57	0		1	8.362710e-01	0	1	0	18	0	46	237
KSR1	8844	broad.mit.edu	37	17	25937132	25937132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000319524.6	+	18	2331	c.2331C>T	c.(2329-2331)tgC>tgT	p.C777C	KSR1_ENST00000582410.1_5'UTR|KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000398988.3_Silent_p.C640C|KSR1_ENST00000268763.6_Silent_p.C640C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2329-2331)tgC>tgT		kinase suppressor of ras 1							93.0	97.0	96.0					17																	25937132		2029	4194	6223	SO:0001819	synonymous_variant	8844	0	0					g.chr17:25937132C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2331C>T	chr17.hg19:g.25937132C>T		0		OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000398988.3_Silent_p.C640C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR	p.C777C			1	2	3	2.015275	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	18	2331	+	Lung NSC(42;0.00836)		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	1	1	hg19	c.2331C>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		16	2	2	1		1	1	132		132	130	1	2.060000	-3.019105	1	0.170000	NM_014238			93	91		504	493	1		1	1		1	0	132	0		1	9.360057e-01	0	3	0	24	0	93	504
LGALS9	3965	broad.mit.edu	37	17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T	rs199701061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	177					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17840	0.0		0.0	False		,,,				2504	0.0				Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999405	0.990000	1.000000																										0				18						c.(529-531)Cgc>Tgc		lectin, galactoside-binding, soluble, 9		C	,CYS/ARG	0,4406		0,0,2203	25.0	24.0	24.0		,529	-1.2	0.8	17		24	2,8590	1.2+/-3.3	0,2,4294	no	intron,missense	LGALS9	NM_002308.3,NM_009587.2	,180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging	,177/356	25970635	2,12996	2203	4296	6499	SO:0001583	missense	3965	51	121378	43				g.chr17:25970635C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.529C>T	chr17.hg19:g.25970635C>T	ENSP00000378856:p.Arg177Cys	0					LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	p.R177C	NM_009587.2	NP_033665.1	1	2	3	2.015275	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	5	1997	+	Lung NSC(42;0.0103)		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	0	1	hg19	c.529C>T	CCDS11222.1	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242970	0.39697	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.15139	3.91;2.45	3.53	-1.16	0.09678	3.53	-1.16	0.09678	.	1.136550	0.06577	N	0.749601	T	0.15478	0.0373	L	0.27053	0.805	0.26432	N	0.975927	D;D	0.76494	0.999;0.998	P;P	0.51229	0.663;0.644	T	0.19712	-1.0297	10	0.62326	D	0.03	.	2.7707	0.05333	0.204:0.4368:0.0:0.3592	.	120;177	B4DWP7;O00182	.;LEG9_HUMAN	C	177;120	ENSP00000378856:R177C;ENSP00000393695:R120C	ENSP00000378856:R177C	R	+	1	0	0	LGALS9	22994762	22994762	0.002000	0.14202	0.773000	0.31616	0.631000	0.37964	-0.535000	0.06142	0.029000	0.15352	-0.201000	0.12746	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	1	0	1		2	2	2	0		0	0	43		43	52	1	2.060000	-3.076235	1	0.170000	NM_009587			27	22		176	151	0		1	1		0	0	43	0		9.999998e-01	1	0	90	0	231	0	27	176
NOS2	4843	broad.mit.edu	37	17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	843	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)			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)	AGCTTTTGGAGCAGCAGCTGG	0.627																																						ENST00000313735.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2527-2529)Ctc>Ttc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)						30.0	33.0	32.0					17																	26091072		2203	4300	6503	SO:0001583	missense	4843	0	0					g.chr17:26091072G>A	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.2527C>T	chr17.hg19:g.26091072G>A	ENSP00000327251:p.Leu843Phe	0						p.L843F	NM_000625.4	NP_000616.3	1	2	3	2.015275	P35228	NOS2_HUMAN		21	2760	-			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	1	1	hg19	c.2527C>T	CCDS11223.1	1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199369	0.58126	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.40225	1.04	5.23	4.26	0.50523	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.59224	0.2178	L	0.58583	1.82	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	T	0.62243	-0.6895	10	0.87932	D	0	.	12.4192	0.55510	0.0823:0.0:0.9177:0.0	.	843	P35228	NOS2_HUMAN	F	843;804	ENSP00000327251:L843F	ENSP00000327251:L843F	L	-	1	0	0	NOS2	23115199	23115199	1.000000	0.71417	0.994000	0.49952	0.393000	0.30537	8.026000	0.88783	1.198000	0.43158	0.462000	0.41574	CTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_000625			32	32		128	127	1		1			0	0	31	0		1	0	0	0	0	0	0	32	128
NOS2	4843	broad.mit.edu	37	17	26101354	26101354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26101354A>G	ENST00000313735.6	-	12	1638	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	469					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)			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)	ATGCTCCCAGACATGGGAGGG	0.562																																						ENST00000313735.6	1.000000	0.150000	6.100000e-01	2.400000e-01	0.380000	0.443369	0.380000	0.330000																										0				56						c.(1405-1407)Tct>Cct		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)						94.0	86.0	88.0					17																	26101354		2203	4300	6503	SO:0001583	missense	4843	0	0					g.chr17:26101354A>G	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.1405T>C	chr17.hg19:g.26101354A>G	ENSP00000327251:p.Ser469Pro	0						p.S469P	NM_000625.4	NP_000616.3	1	2	3	2.015275	P35228	NOS2_HUMAN		12	1638	-			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	0	1	hg19	c.1405T>C	CCDS11223.1	0	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392035	0.83011	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.33216	1.42	5.67	4.57	0.56435	5.67	4.57	0.56435	Nitric oxide synthase, oxygenase domain (2);	0.071079	0.64402	D	0.000020	T	0.68430	0.3000	H	0.97240	3.965	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78099	-0.2336	10	0.87932	D	0	.	12.1225	0.53900	0.8566:0.1434:0.0:0.0	.	469;469	F8WEM3;P35228	.;NOS2_HUMAN	P	469;430;469	ENSP00000327251:S469P	ENSP00000305638:S469P	S	-	1	0	0	NOS2	23125481	23125481	1.000000	0.71417	0.327000	0.25402	0.984000	0.73092	7.348000	0.79366	0.938000	0.37419	0.459000	0.35465	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-8.110500	1	0.170000	NM_000625			6	6		204	200	0		1			0	0	48	0		9.635084e-01	0	0	0	0	0	0	6	204
NOS2	4843	broad.mit.edu	37	17	26110096	26110096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					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)			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)	CCTTTGTTACCGCTTCCACCC	0.517																																						ENST00000313735.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				56						c.(502-504)gcG>gcA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)						254.0	179.0	205.0					17																	26110096		2203	4300	6503	SO:0001819	synonymous_variant	4843	3	121412	35				g.chr17:26110096C>T	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.504G>A	chr17.hg19:g.26110096C>T		0						p.A168A	NM_000625.4	NP_000616.3	1	2	3	2.015275	P35228	NOS2_HUMAN		6	737	-			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	1	1	hg19	c.504G>A	CCDS11223.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-2.718185	1	0.170000	NM_000625			59	57		343	336	1		1	0		0	0	94	0		1	0	0	0	0	1	0	59	343
C17orf97	400566	broad.mit.edu	37	17	263004	263004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263004C>A	ENST00000360127.6	+	2	386	c.370C>A	c.(370-372)Cct>Act	p.P124T	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	124										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CATCTTAAGTCCTTGCAAAGA	0.517																																						ENST00000360127.6	1.000000	0.730000	1	8.700000e-01	0.990000	0.955862	0.990000	1.000000																										0				14						c.(370-372)Cct>Act		chromosome 17 open reading frame 97							124.0	112.0	116.0					17																	263004		2203	4300	6503	SO:0001583	missense	400566	0	0					g.chr17:263004C>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.370C>A	chr17.hg19:g.263004C>A	ENSP00000353245:p.Pro124Thr	0					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.P124T	NM_001013672.4	NP_001013694.4	1	2	3	2.017774	Q6ZQX7	CQ097_HUMAN		2	386	+			A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	1	1	hg19	c.370C>A	CCDS32519.2	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879363	0.33162	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48201	1.28;0.82	5.02	1.81	0.25067	5.02	1.81	0.25067	.	0.568807	0.14858	N	0.294231	T	0.48960	0.1529	L	0.32530	0.975	0.54753	D	0.999982	D	0.76494	0.999	D	0.65323	0.934	T	0.40459	-0.9562	10	0.44086	T	0.13	-10.777	5.2807	0.15674	0.0:0.6416:0.1699:0.1885	.	124	Q6ZQX7-4	.	T	124;118	ENSP00000353245:P124T;ENSP00000419482:P118T	ENSP00000353245:P124T	P	+	1	0	0	C17orf97	263320	263320	0.000000	0.05858	0.322000	0.25334	0.167000	0.22549	-0.432000	0.06956	0.323000	0.23307	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	1	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-11.235780	1	0.170000	NM_001013672			36	37		384	377	0		1	0		0	0	85	0		1	5.287879e-01	0	1	0	19	0	36	384
C17orf97	400566	broad.mit.edu	37	17	263016	263016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263016C>T	ENST00000360127.6	+	2	398	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	128										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCAAAGAGCGTGGCCCGAA	0.507																																						ENST00000360127.6	1.000000	0.090000	3.500000e-01	1.400000e-01	0.210000	0.302623	0.210000	0.190000																										0				14						c.(382-384)Cgt>Tgt		chromosome 17 open reading frame 97							128.0	116.0	120.0					17																	263016		2203	4300	6503	SO:0001583	missense	400566	0	0					g.chr17:263016C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.382C>T	chr17.hg19:g.263016C>T	ENSP00000353245:p.Arg128Cys	0					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.R128C	NM_001013672.4	NP_001013694.4	1	2	3	2.017774	Q6ZQX7	CQ097_HUMAN		2	398	+			A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	0	1	hg19	c.382C>T	CCDS32519.2	0	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986742	0.35036	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48836	1.38;0.8	5.02	4.04	0.47022	5.02	4.04	0.47022	.	0.931283	0.08893	N	0.878365	T	0.44477	0.1295	N	0.14661	0.345	0.39043	D	0.960165	D	0.67145	0.996	P	0.55965	0.788	T	0.41945	-0.9480	10	0.66056	D	0.02	-21.7712	8.414	0.32659	0.0:0.8979:0.0:0.1021	.	128	Q6ZQX7-4	.	C	128;122	ENSP00000353245:R128C;ENSP00000419482:R122C	ENSP00000353245:R128C	R	+	1	0	0	C17orf97	263332	263332	0.010000	0.17322	0.355000	0.25773	0.011000	0.07611	1.070000	0.30653	2.715000	0.92844	0.655000	0.94253	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	0	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-6.263349	1	0.170000	NM_001013672			7	7		416	410	0		1	1		0	0	95	0		9.796161e-01	7.288577e-02	0	2	0	21	0	7	416
NOS2	4843	broad.mit.edu	37	17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	78					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)			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)	GAGGACAATGGGGTTGCATCC	0.537																																						ENST00000313735.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(232-234)Cca>Tca		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)						155.0	156.0	156.0					17																	26115921		2203	4300	6503	SO:0001583	missense	4843	0	0					g.chr17:26115921G>A	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.232C>T	chr17.hg19:g.26115921G>A	ENSP00000327251:p.Pro78Ser	0						p.P78S	NM_000625.4	NP_000616.3	1	2	3	2.015275	P35228	NOS2_HUMAN		4	465	-			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	1	1	hg19	c.232C>T	CCDS11223.1	1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672902	0.29693	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01629	4.72	5.86	2.53	0.30540	5.86	2.53	0.30540	.	0.329526	0.28114	N	0.016542	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.17979	0.02;0.003	T	0.43605	-0.9381	10	0.36615	T	0.2	.	4.3575	0.11185	0.0824:0.1292:0.5762:0.2122	.	78;78	F8WEM3;P35228	.;NOS2_HUMAN	S	78	ENSP00000327251:P78S	ENSP00000305638:P78S	P	-	1	0	0	NOS2	23140048	23140048	0.965000	0.33210	0.007000	0.13788	0.017000	0.09413	1.137000	0.31479	1.489000	0.48450	0.650000	0.86243	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-2.790239	1	0.170000	NM_000625			140	139		663	652	1		1			0	0	171	0		1	0	0	0	0	0	0	140	663
NLK	51701	broad.mit.edu	37	17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|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)			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)		AATGCTATTGACATCTGGTCT	0.428																																						ENST00000407008.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(967-969)gAc>gGc		nemo-like kinase							160.0	154.0	156.0					17																	26495604		2203	4300	6503	SO:0001583	missense	51701	0	0					g.chr17:26495604A>G	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.968A>G	chr17.hg19:g.26495604A>G	ENSP00000384625:p.Asp323Gly	0						p.D323G	NM_016231.4	NP_057315.3	1	2	3	2.015275	Q9UBE8	NLK_HUMAN		6	1686	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	1	1	hg19	c.968A>G	CCDS11224.2	1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848021	0.91277	.	.	ENSG00000087095	ENST00000407008	T	0.78816	-1.21	6.08	6.08	0.98989	6.08	6.08	0.98989	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	0.91962	0.7454	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-8.5349	15.825	0.78698	1.0:0.0:0.0:0.0	.	323	Q9UBE8	NLK_HUMAN	G	323	ENSP00000384625:D323G	ENSP00000384625:D323G	D	+	2	0	0	NLK	23519731	23519731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_016231			119	116		506	490	1		1	1		0	0	134	0		1	9.994680e-01	0	11	0	38	0	119	506
TMEM97	27346	broad.mit.edu	37	17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	145					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408																																						ENST00000226230.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(433-435)tCt>tTt		transmembrane protein 97							124.0	92.0	103.0					17																	26653722		2203	4300	6503	SO:0001583	missense	27346	0	0					g.chr17:26653722C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.434C>T	chr17.hg19:g.26653722C>T	ENSP00000226230:p.Ser145Phe	0					TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F|TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F	p.S145F	NM_014573.2	NP_055388.2	1	2	3	2.015275	Q5BJF2	TMM97_HUMAN		3	579	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	1	1	hg19	c.434C>T	CCDS11226.2	1	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267767	0.10294	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	2.77	0.32553	5.93	2.77	0.32553	.	0.293339	0.44483	N	0.000449	T	0.59797	0.2220	M	0.74647	2.275	0.26200	N	0.979468	D	0.61080	0.989	P	0.58077	0.832	T	0.54036	-0.8353	9	0.46703	T	0.11	-1.5154	10.3922	0.44179	0.0:0.6064:0.3204:0.0732	.	145	Q5BJF2	TMM97_HUMAN	F	145;38	.	ENSP00000226230:S145F	S	+	2	0	0	TMEM97	23677849	23677849	0.121000	0.22262	0.000000	0.03702	0.021000	0.10359	2.413000	0.44618	0.359000	0.24239	-0.175000	0.13238	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_014573			49	49		186	183	1		1	1		0	0	46	0		1	9.999999e-01	0	24	0	74	0	49	186
VTN	7448	broad.mit.edu	37	17	26695591	26695591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000226218.4	-	6	1548	c.930G>T	c.(928-930)cgG>cgT	p.R310R	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	310					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)			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)	CCCAGCTGTCCCGCTGCATCA	0.557																																						ENST00000226218.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(928-930)cgG>cgT		vitronectin	Abciximab(DB00054)						92.0	85.0	87.0					17																	26695591		2203	4300	6503	SO:0001819	synonymous_variant	7448	0	0					g.chr17:26695591C>A	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.930G>T	chr17.hg19:g.26695591C>A		0					CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	p.R310R	NM_000638.3	NP_000629.3	1	2	3	2.015275	P04004	VTNC_HUMAN		6	1548	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	1	1	hg19	c.930G>T	CCDS11229.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-3.619160	1	0.170000	NM_000638			90	90		344	342	1		1	1		0	0	99	0		1	9.903596e-01	0	2	0	28	0	90	344
VTN	7448	broad.mit.edu	37	17	26695907	26695907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695907A>G	ENST00000226218.4	-	5	1430	c.812T>C	c.(811-813)gTc>gCc	p.V271A	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	271					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)			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)	GAAGAAGTAGACCCGCTCCCG	0.582																																						ENST00000226218.4	1.000000	0.290000	6.400000e-01	3.700000e-01	0.470000	0.527248	0.470000	0.450000																										0				13						c.(811-813)gTc>gCc		vitronectin	Abciximab(DB00054)						71.0	63.0	66.0					17																	26695907		2203	4300	6503	SO:0001583	missense	7448	0	0					g.chr17:26695907A>G	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.812T>C	chr17.hg19:g.26695907A>G	ENSP00000226218:p.Val271Ala	0					CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	p.V271A	NM_000638.3	NP_000629.3	1	2	3	2.015275	P04004	VTNC_HUMAN		5	1430	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	1	1	hg19	c.812T>C	CCDS11229.1	0	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727973	0.48833	.	.	ENSG00000255604	ENST00000226218	T	0.02916	4.11	5.92	0.74	0.18330	5.92	0.74	0.18330	Hemopexin/matrixin (2);	0.161668	0.53938	N	0.000042	T	0.02494	0.0076	L	0.28115	0.83	0.48511	D	0.999661	B	0.30793	0.295	B	0.30495	0.116	T	0.56068	-0.8040	10	0.45353	T	0.12	-21.9931	10.6541	0.45665	0.6559:0.0:0.3441:0.0	.	271	P04004	VTNC_HUMAN	A	271	ENSP00000226218:V271A	ENSP00000226218:V271A	V	-	2	0	0	AC002094.1	23720034	23720034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.268000	0.33062	0.146000	0.19002	0.533000	0.62120	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-18.225340	1	0.170000	NM_000638			19	19		473	464	0		1	1		0	0	91	0		9.999893e-01	4.392491e-01	0	2	0	35	0	19	473
VTN	7448	broad.mit.edu	37	17	26696370	26696370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	ENST00000226218.4	-	4	1227	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	203					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)			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)	CGATGGGGCCCTCGATGCCCC	0.587																																						ENST00000226218.4	1.000000	0.210000	5.400000e-01	2.900000e-01	0.380000	0.446036	0.380000	0.360000																										0				13						c.(607-609)gaG>gaA		vitronectin	Abciximab(DB00054)						91.0	86.0	87.0					17																	26696370		2203	4300	6503	SO:0001819	synonymous_variant	7448	0	0					g.chr17:26696370C>T	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.609G>A	chr17.hg19:g.26696370C>T		0					CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	p.E203E	NM_000638.3	NP_000629.3	1	2	3	2.015275	P04004	VTNC_HUMAN		4	1227	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	0	1	hg19	c.609G>A	CCDS11229.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.318794	1	0.170000	NM_000638			15	14		470	462	0		1	0		0	0	99	0		9.998561e-01	2.830742e-01	0	0	0	32	0	15	470
FOXN1	8456	broad.mit.edu	37	17	26851664	26851664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26851664G>T	ENST00000226247.2	+	2	296	c.267G>T	c.(265-267)ggG>ggT	p.G89G	FOXN1_ENST00000579795.1_Silent_p.G89G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	89					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCGGCCCTGGGCCCTTCAGGC	0.682																																						ENST00000226247.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(265-267)ggG>ggT		forkhead box N1							24.0	27.0	26.0					17																	26851664		2200	4300	6500	SO:0001819	synonymous_variant	8456	0	0					g.chr17:26851664G>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.267G>T	chr17.hg19:g.26851664G>T		0					FOXN1_ENST00000579795.1_Silent_p.G89G	p.G89G	NM_003593.2	NP_003584.2	1	2	3	2.015275	O15353	FOXN1_HUMAN		2	296	+	Lung NSC(42;0.00431)		B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	1	0	hg19	c.267G>T	CCDS11232.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				62	60		250	244	0		1			0	0	41	0		1	0	0	0	0	0	0	62	250
PIGS	94005	broad.mit.edu	37	17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					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)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572																																						ENST00000308360.7	1.000000	0.290000	9.100000e-01	4.300000e-01	0.610000	0.647736	0.610000	1.000000																										0				16						c.(628-630)gaG>gaT		phosphatidylinositol glycan anchor biosynthesis, class S							74.0	60.0	65.0					17																	26888486		2203	4300	6503	SO:0001583	missense	94005	0	0					g.chr17:26888486C>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.630G>T	chr17.hg19:g.26888486C>A	ENSP00000309430:p.Glu210Asp	0					PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D	p.E210D	NM_033198.3	NP_149975.1	1	2	3	2.015275	Q96S52	PIGS_HUMAN		6	1005	-	Lung NSC(42;0.00431)		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	1	1	hg19	c.630G>T	CCDS11235.1	0	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062502	0.36373	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.45276	0.9;0.9;0.9	5.68	2.66	0.31614	5.68	2.66	0.31614	.	0.475758	0.25750	N	0.028551	T	0.22282	0.0537	N	0.20685	0.6	0.27407	N	0.954689	B;B	0.15930	0.015;0.012	B;B	0.13407	0.009;0.005	T	0.14364	-1.0475	10	0.22109	T	0.4	-26.0276	4.72	0.12913	0.2364:0.5327:0.0:0.2309	.	210;202	Q96S52;Q96S52-2	PIGS_HUMAN;.	D	202;210;149	ENSP00000378755:E202D;ENSP00000309430:E210D;ENSP00000438447:E149D	ENSP00000309430:E210D	E	-	3	2	2	PIGS	23912613	23912613	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	0.682000	0.25335	0.356000	0.24157	-0.136000	0.14681	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-11.660960	1	0.170000	NM_033198			9	9		178	176	0		1	1		0	0	48	0		9.942897e-01	9.975887e-01	0	10	0	211	0	9	178
PIGS	94005	broad.mit.edu	37	17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L|PIGS_ENST00000465444.1_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	121					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)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483																																						ENST00000308360.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(361-363)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class S							200.0	186.0	190.0					17																	26890850		2203	4300	6503	SO:0001583	missense	94005	1	121412	27				g.chr17:26890850G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.362C>T	chr17.hg19:g.26890850G>A	ENSP00000309430:p.Ser121Leu	0					PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L	p.S121L	NM_033198.3	NP_149975.1	1	2	3	2.015275	Q96S52	PIGS_HUMAN		4	737	-	Lung NSC(42;0.00431)		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	1	1	hg19	c.362C>T	CCDS11235.1	1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269863	0.05716	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	5.21	2.69	0.31865	5.21	2.69	0.31865	.	0.519639	0.20737	N	0.086620	T	0.10895	0.0266	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	0.20240	-1.0281	10	0.24483	T	0.36	-6.2214	3.9546	0.09383	0.6491:0.0:0.1999:0.151	.	121;113	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	113;121;60	ENSP00000378755:S113L;ENSP00000309430:S121L;ENSP00000438447:S60L	ENSP00000309430:S121L	S	-	2	0	0	PIGS	23914977	23914977	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.591000	0.23969	0.732000	0.32470	-0.345000	0.07892	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	1	0	1		2	2	2	0		0	0	204		204	199	1	2.060000	-20.000000	1	0.170000	NM_033198			157	155		683	678	1		1	1		0	0	204	0		1	1	0	62	0	158	0	157	683
SPAG5	10615	broad.mit.edu	37	17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A	rs539914180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	464					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)				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)					TGGGTTTCTGGGTGAGGGACA	0.537																																						ENST00000321765.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1390-1392)Cca>Tca		sperm associated antigen 5							96.0	89.0	91.0					17																	26918763		2203	4300	6503	SO:0001583	missense	10615	0	0					g.chr17:26918763G>A	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.1390C>T	chr17.hg19:g.26918763G>A	ENSP00000323300:p.Pro464Ser	0						p.P464S	NM_006461.3	NP_006452.3	1	2	3	2.015275	Q96R06	SPAG5_HUMAN		4	1722	-	Lung NSC(42;0.00431)		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	1	1	hg19	c.1390C>T	CCDS32594.1	1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107023	0.20714	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	2.57	0.30868	5.73	2.57	0.30868	.	0.749706	0.12505	N	0.462985	T	0.15349	0.0370	N	0.11560	0.145	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.33214	-0.9877	9	0.07990	T	0.79	4.8732	4.7754	0.13176	0.1848:0.0:0.6461:0.1691	.	464	Q96R06	SPAG5_HUMAN	S	464	.	ENSP00000323300:P464S	P	-	1	0	0	SPAG5	23942890	23942890	0.001000	0.12720	0.007000	0.13788	0.992000	0.81027	0.478000	0.22212	0.306000	0.22856	0.655000	0.94253	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-2.989393	1	0.170000	NM_006461			96	92		434	425	1		1	1		0	0	120	0		1	8.976668e-01	0	6	0	14	0	96	434
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|KIAA0100_ENST00000579924.2_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000301037.5_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region (GO:0005576)				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)					AAATCATTTGCGCCTGCCAAA	0.562																																						ENST00000528896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(6700-6702)cGc>cAc		KIAA0100							244.0	240.0	242.0					17																	26942089		2203	4300	6503	SO:0001583	missense	9703	3	121412	40				g.chr17:26942089C>T	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.6701G>A	chr17.hg19:g.26942089C>T	ENSP00000436773:p.Arg2234His	0					SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	p.R2234H	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		39	6775	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	1	1	hg19	c.6701G>A	CCDS32595.1	1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	0	KIAA0100	23966216	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	0		17	6	2	1		1	1	352		352	349	1	2.060000	-20.000000	1	0.170000	NM_014680			282	277		1384	1345	1		1	1		1	0	352	0		1	1	0	35	0	300	0	282	1384
KIAA0100	9703	broad.mit.edu	37	17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|KIAA0100_ENST00000579924.2_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000301037.5_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2108						extracellular region (GO:0005576)				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)					ATGGCAGCTCGCTCTTTCATC	0.478																																						ENST00000528896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(6322-6324)Cga>Tga		KIAA0100							84.0	68.0	73.0					17																	26943182		2203	4300	6503	SO:0001587	stop_gained	9703	1	121412	28				g.chr17:26943182G>A	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.6322C>T	chr17.hg19:g.26943182G>A	ENSP00000436773:p.Arg2108*	0					SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	p.R2108*	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		37	6396	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	0	1	hg19	c.6322C>T	CCDS32595.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.572001	0.99750	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.63	4.64	0.57946	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4692	0.61273	0.0:0.0:0.715:0.285	.	.	.	.	X	2108;2078;2108;1965	.	ENSP00000005905:R2108X	R	-	1	2	2	KIAA0100	23967309	23967309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.333000	0.45449	0.655000	0.94253	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_014680			47	47		211	206	1		1	1		0	0	50	0		1	1	0	18	0	237	0	47	211
KIAA0100	9703	broad.mit.edu	37	17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|KIAA0100_ENST00000579924.2_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000301037.5_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2074						extracellular region (GO:0005576)				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)					CACACCCTTCCCAGGGCCCAG	0.512																																						ENST00000528896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(6220-6222)gGg>gAg		KIAA0100							83.0	82.0	82.0					17																	26943464		2203	4300	6503	SO:0001583	missense	9703	0	0					g.chr17:26943464C>T	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.6221G>A	chr17.hg19:g.26943464C>T	ENSP00000436773:p.Gly2074Glu	0					SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	p.G2074E	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		36	6295	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	1	1	hg19	c.6221G>A	CCDS32595.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421244	0.83559	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.41065	1.01;1.01	6.11	6.11	0.99139	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.041590	0.85682	D	0.000000	T	0.54224	0.1845	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.34453	-0.9828	10	0.05833	T	0.94	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2074	Q14667	K0100_HUMAN	E	2074;2044;2074;1931	ENSP00000436773:G2074E;ENSP00000446443:G1931E	ENSP00000005905:G2074E	G	-	2	0	0	KIAA0100	23967591	23967591	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.353000	0.66034	2.906000	0.99361	0.655000	0.94253	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-3.438015	1	0.170000	NM_014680			110	107		455	441	1		1	1		0	0	135	0		1	1	0	21	0	293	0	110	455
KIAA0100	9703	broad.mit.edu	37	17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1787						extracellular region (GO:0005576)				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)					CTCACCTTCCGCTTAGGTTCT	0.493																																						ENST00000528896.2	1.000000	0.360000	8.900000e-01	4.800000e-01	0.640000	0.672899	0.640000	0.600000																										0				68						c.(5359-5361)Cgg>Tgg		KIAA0100							147.0	121.0	130.0					17																	26947532		2203	4300	6503	SO:0001583	missense	9703	0	0					g.chr17:26947532G>A	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.5359C>T	chr17.hg19:g.26947532G>A	ENSP00000436773:p.Arg1787Trp	0					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W|KIAA0100_ENST00000579924.2_5'Flank	p.R1787W	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		29	5433	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	1	1	hg19	c.5359C>T	CCDS32595.1	0	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328096	0.60743	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.24	4.25	0.50352	5.24	4.25	0.50352	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.72032	D	0.01	.	14.6988	0.69142	0.0:0.0:0.8534:0.1466	.	1787	Q14667	K0100_HUMAN	W	1787;1757;1787;1644	ENSP00000436773:R1787W;ENSP00000446443:R1644W	ENSP00000005905:R1787W	R	-	1	2	2	KIAA0100	23971659	23971659	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.403000	0.59729	1.188000	0.43014	0.462000	0.41574	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-3.151044	1	0.170000	NM_014680			14	13		258	249	0		1	1		0	0	53	0		9.997080e-01	9.992764e-01	0	17	0	212	0	14	258
KIAA0100	9703	broad.mit.edu	37	17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	587						extracellular region (GO:0005576)				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)					AACCAAGGCAGAAAGGGTAAA	0.488																																						ENST00000528896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1759-1761)tCt>tAt		KIAA0100							108.0	92.0	98.0					17																	26964865		2203	4300	6503	SO:0001583	missense	9703	0	0					g.chr17:26964865G>T	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.1760C>A	chr17.hg19:g.26964865G>T	ENSP00000436773:p.Ser587Tyr	0					KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y|RP11-192H23.7_ENST00000577814.1_RNA	p.S587Y	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		14	1834	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	1	1	hg19	c.1760C>A	CCDS32595.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063874	0.76187	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.7;1.69	5.76	5.76	0.90799	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.31138	-0.9954	10	0.72032	D	0.01	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	587	Q14667	K0100_HUMAN	Y	587;587;587;444	ENSP00000436773:S587Y;ENSP00000446443:S444Y	ENSP00000005905:S587Y	S	-	2	0	0	KIAA0100	23988992	23988992	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.423000	0.73361	2.724000	0.93272	0.563000	0.77884	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_014680			71	68		287	277	1		1	1		0	0	59	0		1	1	0	12	0	99	0	71	287
KIAA0100	9703	broad.mit.edu	37	17	26965068	26965068	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26965068A>G	ENST00000528896.2	-	14	1631	c.1557T>C	c.(1555-1557)gaT>gaC	p.D519D	KIAA0100_ENST00000389003.3_Silent_p.D376D|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.D376D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	519						extracellular region (GO:0005576)				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)					GAAAAAGGGTATCTGACTGGG	0.478																																						ENST00000528896.2	1.000000	0.180000	6.800000e-01	2.900000e-01	0.430000	0.491008	0.430000	0.380000																										0				68						c.(1555-1557)gaT>gaC		KIAA0100							60.0	60.0	60.0					17																	26965068		2203	4300	6503	SO:0001819	synonymous_variant	9703	0	0					g.chr17:26965068A>G	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.1557T>C	chr17.hg19:g.26965068A>G		0					KIAA0100_ENST00000389003.3_Silent_p.D376D|KIAA0100_ENST00000544884.1_Silent_p.D376D|RP11-192H23.7_ENST00000577814.1_RNA	p.D519D	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		14	1631	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	0	1	hg19	c.1557T>C	CCDS32595.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-9.215678	1	0.170000	NM_014680			7	7		204	201	0		1	1		0	0	42	0		9.801344e-01	9.273508e-01	0	2	0	136	0	7	204
KIAA0100	9703	broad.mit.edu	37	17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	157						extracellular region (GO:0005576)				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)					TACTGATCTGAATATGCCATA	0.438																																						ENST00000528896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(469-471)atT>atG		KIAA0100							119.0	111.0	113.0					17																	26969931		2203	4300	6503	SO:0001583	missense	9703	0	0					g.chr17:26969931A>C	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.471T>G	chr17.hg19:g.26969931A>C	ENSP00000436773:p.Ile157Met	0					KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	p.I157M	NM_014680.3	NP_055495.2	1	2	3	2.015275	Q14667	K0100_HUMAN		5	545	-	Lung NSC(42;0.00431)		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	1	1	hg19	c.471T>G	CCDS32595.1	1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021157	0.19433	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.83;1.82	5.39	-1.97	0.07503	5.39	-1.97	0.07503	FMP27, N-terminal (1);	0.044276	0.85682	D	0.000000	T	0.12603	0.0306	N	0.11201	0.11	0.27554	N	0.950413	P;P;B	0.45715	0.865;0.607;0.025	P;B;B	0.46585	0.521;0.28;0.023	T	0.20974	-1.0259	10	0.36615	T	0.2	.	4.6376	0.12531	0.2117:0.1394:0.5128:0.1361	.	14;157;157	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	157;157;157;14	ENSP00000436773:I157M;ENSP00000446443:I14M	ENSP00000005905:I157M	I	-	3	3	3	KIAA0100	23994058	23994058	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.681000	0.37618	-0.440000	0.07211	-1.400000	0.01143	ATT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_014680			49	49		246	240	1		1	1		0	0	62	0		1	9.999836e-01	0	13	0	72	0	49	246
SUPT6H	6830	broad.mit.edu	37	17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	715	Interaction with KDM6A. {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.R715W(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)					GGCCATCGAACGGGCTTTACA	0.498																																						ENST00000314616.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R715W(1)	large_intestine(1)	64						c.(2143-2145)Cgg>Tgg		suppressor of Ty 6 homolog (S. cerevisiae)							74.0	73.0	74.0					17																	27010748		2203	4300	6503	SO:0001583	missense	6830	0	0					g.chr17:27010748C>T	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.2143C>T	chr17.hg19:g.27010748C>T	ENSP00000319104:p.Arg715Trp	0					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	p.R715W	NM_003170.3	NP_003161.2	1	2	3	2.015275	Q7KZ85	SPT6H_HUMAN		17	2426	+	Lung NSC(42;0.00431)		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	1	1	hg19	c.2143C>T	CCDS32596.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998760	0.74818	.	.	ENSG00000109111	ENST00000314616	T	0.40756	1.02	5.39	5.39	0.77823	5.39	5.39	0.77823	Tex-like domain (1);	0.060685	0.64402	D	0.000003	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	T	0.53585	-0.8418	10	0.36615	T	0.2	-1.2919	19.2162	0.93780	0.0:1.0:0.0:0.0	.	715	Q7KZ85	SPT6H_HUMAN	W	715	ENSP00000319104:R715W	ENSP00000319104:R715W	R	+	1	2	2	SUPT6H	24034875	24034875	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.930000	0.48924	2.557000	0.86248	0.650000	0.86243	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_003170			53	52		238	231	1		1	1		0	0	67	0		1	1	0	46	0	178	0	53	238
SUPT6H	6830	broad.mit.edu	37	17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	739	Interaction with KDM6A. {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)			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)					TGAAGCCAAGGAATATGTCAT	0.493																																						ENST00000314616.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2215-2217)Gaa>Aaa		suppressor of Ty 6 homolog (S. cerevisiae)							52.0	53.0	53.0					17																	27010820		2203	4300	6503	SO:0001583	missense	6830	0	0					g.chr17:27010820G>A	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.2215G>A	chr17.hg19:g.27010820G>A	ENSP00000319104:p.Glu739Lys	0					SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	p.E739K	NM_003170.3	NP_003161.2	1	2	3	2.015275	Q7KZ85	SPT6H_HUMAN		17	2498	+	Lung NSC(42;0.00431)		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	1	1	hg19	c.2215G>A	CCDS32596.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960195	0.74016	.	.	ENSG00000109111	ENST00000314616	T	0.45276	0.9	5.39	5.39	0.77823	5.39	5.39	0.77823	Tex-like domain (1);	0.159904	0.56097	D	0.000037	T	0.38134	0.1029	L	0.42245	1.32	0.58432	D	0.999999	B	0.31893	0.345	B	0.29353	0.101	T	0.12116	-1.0560	10	0.27082	T	0.32	-8.0924	19.2162	0.93780	0.0:0.0:1.0:0.0	.	739	Q7KZ85	SPT6H_HUMAN	K	739	ENSP00000319104:E739K	ENSP00000319104:E739K	E	+	1	0	0	SUPT6H	24034947	24034947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_003170			44	44		145	140	1		1	1		0	0	29	0		1	1	0	40	0	126	0	44	145
SUPT6H	6830	broad.mit.edu	37	17	27022515	27022515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27022515C>T	ENST00000314616.6	+	29	4203	c.3920C>T	c.(3919-3921)gCt>gTt	p.A1307V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1307					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)			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)					GATGCTGAAGCTGCAGACCAC	0.552																																						ENST00000314616.6	1.000000	0.120000	5.600000e-01	2.000000e-01	0.330000	0.402312	0.330000	0.280000																										0				64						c.(3919-3921)gCt>gTt		suppressor of Ty 6 homolog (S. cerevisiae)							105.0	87.0	93.0					17																	27022515		2203	4300	6503	SO:0001583	missense	6830	0	0					g.chr17:27022515C>T	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.3920C>T	chr17.hg19:g.27022515C>T	ENSP00000319104:p.Ala1307Val	0					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	p.A1307V	NM_003170.3	NP_003161.2	1	2	3	2.015275	Q7KZ85	SPT6H_HUMAN		29	4203	+	Lung NSC(42;0.00431)		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	0	1	hg19	c.3920C>T	CCDS32596.1	0	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257120	0.80246	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.149662	0.64402	D	0.000010	T	0.42404	0.1201	N	0.08118	0	0.54753	D	0.99998	B	0.12630	0.006	B	0.15484	0.013	T	0.21861	-1.0233	9	0.39692	T	0.17	-13.6067	20.0345	0.97552	0.0:1.0:0.0:0.0	.	1307	Q7KZ85	SPT6H_HUMAN	V	1307	.	ENSP00000319104:A1307V	A	+	2	0	0	SUPT6H	24046642	24046642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.733000	0.93635	0.650000	0.86243	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-6.802722	1	0.170000	NM_003170			5	5		199	195	0		1	1		0	0	69	0		9.350228e-01	9.756493e-01	0	13	0	268	0	5	199
SUPT6H	6830	broad.mit.edu	37	17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1554					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)			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)					GCTGTGAATGCCCTGCCTCAG	0.572																																						ENST00000314616.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(4660-4662)gCc>gTc		suppressor of Ty 6 homolog (S. cerevisiae)							142.0	126.0	131.0					17																	27027385		2203	4300	6503	SO:0001583	missense	6830	0	0					g.chr17:27027385C>T	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.4661C>T	chr17.hg19:g.27027385C>T	ENSP00000319104:p.Ala1554Val	0					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	p.A1554V	NM_003170.3	NP_003161.2	1	2	3	2.015275	Q7KZ85	SPT6H_HUMAN		35	4944	+	Lung NSC(42;0.00431)		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	1	1	hg19	c.4661C>T	CCDS32596.1	1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760925	0.69763	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.058184	0.64402	D	0.000002	T	0.37461	0.1004	N	0.22421	0.69	0.80722	D	1	P	0.40970	0.734	B	0.31751	0.135	T	0.26326	-1.0106	9	0.31617	T	0.26	-13.4042	18.4501	0.90700	0.0:1.0:0.0:0.0	.	1554	Q7KZ85	SPT6H_HUMAN	V	1554	.	ENSP00000319104:A1554V	A	+	2	0	0	SUPT6H	24051512	24051512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.209000	0.77916	2.364000	0.80123	0.650000	0.86243	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	1		2	2	2	0		0	0	162		162	159	1	2.060000	-20.000000	1	0.170000	NM_003170			140	139		617	606	1		1	1		0	0	162	0		1	1	0	51	0	179	0	140	617
NEK8	284086	broad.mit.edu	37	17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	21	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)			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)					TGTGCACCTGTGCCTGCGAAA	0.562																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				35						c.(61-63)Tgc>Cgc		NIMA-related kinase 8							82.0	74.0	77.0					17																	27061014		2203	4300	6503	SO:0001583	missense	284086	0	0					g.chr17:27061014T>C	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.61T>C	chr17.hg19:g.27061014T>C	ENSP00000268766:p.Cys21Arg	0					AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	p.C21R	NM_178170.2	NP_835464.1	1	2	3	2.015275	Q86SG6	NEK8_HUMAN		2	95	+	Lung NSC(42;0.0158)		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	1	1	hg19	c.61T>C	CCDS32597.1	1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908107	0.72868	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.25579	1.79;1.79	4.92	4.92	0.64577	4.92	4.92	0.64577	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	0.51584	0.1683	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58295	-0.7661	10	0.72032	D	0.01	.	13.7609	0.62966	0.0:0.0:0.0:1.0	.	21	Q86SG6	NEK8_HUMAN	R	21	ENSP00000465859:C21R;ENSP00000268766:C21R	ENSP00000268766:C21R	C	+	1	0	0	NEK8	24085141	24085141	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.766000	0.85320	1.840000	0.53500	0.260000	0.18958	TGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				31	30		152	151	0		1	1		0	0	44	0		1	4.749542e-01	0	4	0	5	0	31	152
NEK8	284086	broad.mit.edu	37	17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T	rs565763400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	499					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)			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)					GGAAGCTCAGCGAGTTGTATG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0				NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6	1.000000	0.640000	1	7.500000e-01	0.880000	0.878198	0.880000	1.000000																										0				35						c.(1495-1497)Cga>Tga		NIMA-related kinase 8							119.0	109.0	112.0					17																	27067558		2203	4300	6503	SO:0001587	stop_gained	284086	3	121412	35				g.chr17:27067558C>T	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.1495C>T	chr17.hg19:g.27067558C>T	ENSP00000268766:p.Arg499*	0					AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA	p.R499*	NM_178170.2	NP_835464.1	1	2	3	2.015275	Q86SG6	NEK8_HUMAN		11	1529	+	Lung NSC(42;0.0158)		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	ENST00000268766.6	0	1	hg19	c.1495C>T	CCDS32597.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.219461	0.95139	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.56	-1.1	0.09872	5.56	-1.1	0.09872	.	0.051240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.429	0.44395	0.6412:0.2843:0.0:0.0745	.	.	.	.	X	499	.	ENSP00000268766:R499X	R	+	1	2	2	NEK8	24091685	24091685	0.961000	0.32948	0.929000	0.37066	0.977000	0.68977	0.124000	0.15728	-0.021000	0.14009	0.555000	0.69702	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-10.056580	1	0.170000				43	42		546	531	0		1	0		0	0	98	0		1	3.904068e-01	0	0	0	17	0	43	546
TRAF4	9618	broad.mit.edu	37	17	27071139	27071139	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	AC010761.9_ENST00000577325.1_RNA|AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	3					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746																																						ENST00000262395.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999694	0.990000	1.000000																										0				10						c.(7-9)ggC>ggT		TNF receptor-associated factor 4							13.0	16.0	15.0					17																	27071139		2200	4294	6494	SO:0001819	synonymous_variant	9618	0	0					g.chr17:27071139C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.9C>T	chr17.hg19:g.27071139C>T		0					TRAF4_ENST00000444415.3_Silent_p.G3G|TRAF4_ENST00000262396.6_Silent_p.G3G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA|AC010761.6_ENST00000584779.1_RNA	p.G3G	NM_004295.3	NP_004286.2	1	2	3	2.015275	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)	1	138	+	Lung NSC(42;0.01)		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	1	1	hg19	c.9C>T	CCDS11243.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_145751			19	18		99	99	0		1	1		0	0	23	0		9.999944e-01	9.963321e-01	0	29	0	22	0	19	99
TRAF4	9618	broad.mit.edu	37	17	27075073	27075073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	113					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587																																						ENST00000262395.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(337-339)tgC>tgT		TNF receptor-associated factor 4							89.0	90.0	90.0					17																	27075073		2203	4300	6503	SO:0001819	synonymous_variant	9618	1	121410	30				g.chr17:27075073C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.339C>T	chr17.hg19:g.27075073C>T		0					TRAF4_ENST00000444415.3_Silent_p.C113C|TRAF4_ENST00000262396.6_Silent_p.C113C|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA	p.C113C	NM_004295.3	NP_004286.2	1	2	3	2.015275	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)	4	468	+	Lung NSC(42;0.01)		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	1	1	hg19	c.339C>T	CCDS11243.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_145751			75	71		300	294	0		1	1		0	0	92	0		1	1	0	71	0	120	0	75	300
TRAF4	9618	broad.mit.edu	37	17	27076400	27076400	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	406	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577																																						ENST00000262395.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1216-1218)gaG>gaA		TNF receptor-associated factor 4							63.0	58.0	59.0					17																	27076400		2203	4300	6503	SO:0001819	synonymous_variant	9618	0	0					g.chr17:27076400G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1218G>A	chr17.hg19:g.27076400G>A		0					TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA	p.E406E	NM_004295.3	NP_004286.2	1	2	3	2.015275	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)	7	1347	+	Lung NSC(42;0.01)		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	1	1	hg19	c.1218G>A	CCDS11243.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_145751			64	62		259	253	1		1	1		0	0	45	0		1	1	0	133	0	178	0	64	259
ERAL1	26284	broad.mit.edu	37	17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	181	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478													A|||	5	0.000998403	0.0038	0.0	5008	,	,		22088	0.0		0.0	False		,,,				2504	0.0					ENST00000254928.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				11						c.(541-543)cAc>cGc		Era-like 12S mitochondrial rRNA chaperone 1		A	ARG/HIS	22,4384	29.0+/-57.7	0,22,2181	109.0	106.0	107.0		542	5.8	1.0	17	dbSNP_134	107	0,8600		0,0,4300	yes	missense	ERAL1	NM_005702.2	29	0,22,6481	GG,GA,AA		0.0,0.4993,0.1692	benign	181/438	27185169	22,12984	2203	4300	6503	SO:0001583	missense	26284	46	121412	48				g.chr17:27185169A>G	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.542A>G	chr17.hg19:g.27185169A>G	ENSP00000254928:p.His181Arg	0					ERAL1_ENST00000578001.1_3'UTR	p.H181R	NM_005702.2	NP_005693.1	1	2	3	2.015275	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)	5	639	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	1	1	hg19	c.542A>G	CCDS11244.1	1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.25	1.880780	0.33255	0.004993	0.0	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95272	-3.66	5.8	5.8	0.92144	5.8	5.8	0.92144	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.533866	0.24014	N	0.042344	D	0.83617	0.5293	N	0.11131	0.1	0.43267	D	0.99521	B	0.32128	0.357	B	0.34590	0.186	D	0.84150	0.0422	10	0.07325	T	0.83	-4.852	14.9742	0.71257	1.0:0.0:0.0:0.0	.	181	O75616	ERAL1_HUMAN	R	181;121	ENSP00000254928:H181R	ENSP00000254928:H181R	H	+	2	0	0	ERAL1	24209295	24209295	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	7.566000	0.82347	2.224000	0.72417	0.533000	0.62120	CAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-5.534402	1	0.170000				52	52		301	295	1		1	1		0	0	80	0		1	9.999997e-01	0	47	0	84	0	52	301
FLOT2	2319	broad.mit.edu	37	17	27207787	27207787	+	Silent	SNP	G	G	A	rs369098535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394908.4	-	10	1296	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	FLOT2_ENST00000585169.1_Silent_p.L398L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.L453L	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	398					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577																																						ENST00000394908.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1192-1194)Ctg>Ttg		flotillin 2							88.0	93.0	91.0					17																	27207787		2164	4268	6432	SO:0001819	synonymous_variant	2319	0	0					g.chr17:27207787G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1192C>T	chr17.hg19:g.27207787G>A		0					FLOT2_ENST00000394906.2_Silent_p.L453L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.L398L	p.L398L	NM_004475.2	NP_004466.2	1	2	3	2.015275	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)	10	1296	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)			Silent	SNP	ENST00000394908.4	1	1	hg19	c.1192C>T	CCDS11245.2	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-20.000000	1	0.170000	NM_004475			106	104		454	443	1		1	1		0	0	116	0		1	1	0	51	0	221	0	106	454
FLOT2	2319	broad.mit.edu	37	17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394908.4	-	9	1099	c.995C>T	c.(994-996)gCg>gTg	p.A332V	FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Missense_Mutation_p.A387V	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	332					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622																																						ENST00000394908.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(994-996)gCg>gTg		flotillin 2							71.0	75.0	74.0					17																	27208313		2098	4222	6320	SO:0001583	missense	2319	5	121070	37				g.chr17:27208313G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.995C>T	chr17.hg19:g.27208313G>A	ENSP00000378368:p.Ala332Val	0					FLOT2_ENST00000394906.2_Missense_Mutation_p.A387V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	p.A332V	NM_004475.2	NP_004466.2	1	2	3	2.015275	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)	9	1099	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)			Missense_Mutation	SNP	ENST00000394908.4	1	1	hg19	c.995C>T	CCDS11245.2	1	.	.	.	.	.	.	.	.	.	.	G	35	5.590102	0.96590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.047985	0.85682	D	0.000000	T	0.46776	0.1410	M	0.80982	2.52	0.80722	D	1	P	0.48162	0.906	B	0.41412	0.356	T	0.54906	-0.8223	10	0.54805	T	0.06	-27.4188	18.9843	0.92764	0.0:0.0:1.0:0.0	.	332	Q14254	FLOT2_HUMAN	V	387;332	ENSP00000378366:A387V;ENSP00000378368:A332V	ENSP00000378366:A387V	A	-	2	0	0	FLOT2	24232439	24232439	1.000000	0.71417	0.968000	0.41197	0.922000	0.55478	9.753000	0.98904	2.744000	0.94065	0.561000	0.74099	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	1	0	1		19	2	2	0		0	1	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_004475			95	93		419	406	1		1	1		0	0	88	0		1	1	0	111	0	273	0	95	419
DHRS13	147015	broad.mit.edu	37	17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000378895.4	-	5	1120	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|RP11-20B24.4_ENST00000580603.1_RNA|FLOT2_ENST00000585169.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.A282T|DHRS13_ENST00000581974.1_5'Flank|FLOT2_ENST00000394908.4_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|FLOT2_ENST00000577789.1_5'Flank|FLOT2_ENST00000394906.2_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	332						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612																																						ENST00000378895.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999813	0.990000	1.000000																										0				9						c.(994-996)Gcc>Acc		dehydrogenase/reductase (SDR family) member 13							26.0	28.0	27.0					17																	27225599		2203	4300	6503	SO:0001583	missense	147015	0	0					g.chr17:27225599C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.994G>A	chr17.hg19:g.27225599C>T	ENSP00000368173:p.Ala332Thr	0					RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|FLOT2_ENST00000394906.2_5'Flank|FLOT2_ENST00000394908.4_5'Flank|FLOT2_ENST00000577789.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.A282T|FLOT2_ENST00000585169.1_5'Flank	p.A332T	NM_144683.3	NP_653284.2	1	2	3	2.015275	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)	5	1120	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	1	1	hg19	c.994G>A	CCDS11246.2	1	.	.	.	.	.	.	.	.	.	.	C	8.772	0.926259	0.18056	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	T;T;D	0.82893	-1.45;-0.98;-1.66	4.99	-1.04	0.10068	4.99	-1.04	0.10068	.	0.990667	0.08205	N	0.981575	T	0.66886	0.2835	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.48592	-0.9022	10	0.22706	T	0.39	.	4.0285	0.09698	0.1651:0.439:0.0:0.3959	.	251;332	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	332;282;251	ENSP00000368173:A332T;ENSP00000378361:A282T;ENSP00000412826:A251T	ENSP00000368173:A332T	A	-	1	0	0	DHRS13	24249725	24249725	0.001000	0.12720	0.252000	0.24328	0.120000	0.20174	-0.826000	0.04429	-0.020000	0.14032	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_144683			17	16		77	77	1		1	1		0	0	17	0		9.999792e-01	9.980918e-01	0	22	0	29	0	17	77
DHRS13	147015	broad.mit.edu	37	17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000378895.4	-	4	544	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.R90W|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	140						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602																																						ENST00000378895.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(418-420)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 13							78.0	78.0	78.0					17																	27228272		2203	4300	6503	SO:0001583	missense	147015	0	0					g.chr17:27228272G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.418C>T	chr17.hg19:g.27228272G>A	ENSP00000368173:p.Arg140Trp	0					RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.R90W	p.R140W	NM_144683.3	NP_653284.2	1	2	3	2.015275	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)	4	544	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	1	1	hg19	c.418C>T	CCDS11246.2	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386410	0.82902	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	5.58	0.84498	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.118882	0.56097	D	0.000022	D	0.94255	0.8155	M	0.68317	2.08	0.41278	D	0.986899	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.94650	0.7838	10	0.87932	D	0	.	14.359	0.66757	0.0:0.2636:0.7364:0.0	.	59;140	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	140;90;59	ENSP00000368173:R140W;ENSP00000378361:R90W;ENSP00000412826:R59W	ENSP00000368173:R140W	R	-	1	2	2	DHRS13	24252398	24252398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.625000	0.88918	0.561000	0.74099	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_144683			88	88		438	435	1		1	1		0	0	105	0		1	9.872979e-01	0	11	0	25	0	88	438
DHRS13	147015	broad.mit.edu	37	17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000378895.4	-	3	397	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	DHRS13_ENST00000426464.2_Intron|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.F41V|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587																																						ENST00000378895.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(271-273)Ttc>Gtc		dehydrogenase/reductase (SDR family) member 13							95.0	86.0	89.0					17																	27228610		2203	4300	6503	SO:0001583	missense	147015	0	0					g.chr17:27228610A>C	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.271T>G	chr17.hg19:g.27228610A>C	ENSP00000368173:p.Phe91Val	0					RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.F41V	p.F91V	NM_144683.3	NP_653284.2	1	2	3	2.015275	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)	3	397	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	1	1	hg19	c.271T>G	CCDS11246.2	1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185176	0.57909	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.86164	-2.08;-2.08	5.6	5.6	0.85130	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	N	0.03917	-0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78785	-0.2068	10	0.05351	T	0.99	.	14.9612	0.71158	1.0:0.0:0.0:0.0	.	91	Q6UX07	DHR13_HUMAN	V	91;41	ENSP00000368173:F91V;ENSP00000378361:F41V	ENSP00000368173:F91V	F	-	1	0	0	DHRS13	24252736	24252736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.676000	0.91199	2.134000	0.65973	0.454000	0.30748	TTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_144683			65	64		276	273	1		1	1		0	0	85	0		1	8.601512e-01	0	3	0	14	0	65	276
PHF12	57649	broad.mit.edu	37	17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597																																						ENST00000332830.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2935-2937)Ctg>Atg		PHD finger protein 12							50.0	56.0	54.0					17																	27233281		2203	4300	6503	SO:0001583	missense	57649	0	0					g.chr17:27233281G>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2935C>A	chr17.hg19:g.27233281G>T	ENSP00000329933:p.Leu979Met	0					PHF12_ENST00000577226.1_3'UTR	p.L979M	NM_001033561.1	NP_001028733.1	1	2	3	2.015275			Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)	15	3745	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)			Missense_Mutation	SNP	ENST00000332830.4	1	1	hg19	c.2935C>A	CCDS32598.1	1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517194	0.27123	.	.	ENSG00000109118	ENST00000332830	D	0.94723	-3.5	5.28	2.04	0.26737	5.28	2.04	0.26737	.	0.360301	0.26383	N	0.024681	D	0.88429	0.6434	L	0.40543	1.245	0.80722	D	1	P;P	0.41041	0.736;0.736	B;B	0.36186	0.219;0.219	D	0.84023	0.0355	10	0.51188	T	0.08	-6.6244	5.9949	0.19489	0.1811:0.2947:0.5242:0.0	.	961;979	B4DFE2;Q96QT6	.;PHF12_HUMAN	M	979	ENSP00000329933:L979M	ENSP00000329933:L979M	L	-	1	2	2	PHF12	24257407	24257407	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.876000	0.48498	0.631000	0.30412	0.651000	0.88453	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_020889			50	49		211	208	1		1	1		0	0	47	0		1	1	0	19	0	98	0	50	211
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	G	A	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000332830.4	-	10	2916	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.P702P	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557																																						ENST00000332830.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2104-2106)ccC>ccT		PHD finger protein 12		G		0,4406		0,0,2203	154.0	124.0	134.0		2106	4.6	1.0	17	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PHF12	NM_001033561.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		702/1005	27238239	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57649	5	121412	39				g.chr17:27238239G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2106C>T	chr17.hg19:g.27238239G>A		0					PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.P702P	p.P702P	NM_001033561.1	NP_001028733.1	1	2	3	2.015275			Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)	10	2916	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)			Silent	SNP	ENST00000332830.4	1	1	hg19	c.2106C>T	CCDS32598.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.352540	1	0.170000	NM_020889			51	50		203	200	1		1	1		0	0	46	0		1	1	0	16	0	111	0	51	203
SEZ6	124925	broad.mit.edu	37	17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|SEZ6_ENST00000335960.6_Silent_p.L499L			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	967					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)				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)			AATGCGGTTGTAggggcgggg	0.577																																						ENST00000317338.12	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				29						c.(2899-2901)tAc>tGc		seizure related 6 homolog (mouse)							19.0	21.0	20.0					17																	27283229		2116	4245	6361	SO:0001583	missense	124925	0	0					g.chr17:27283229T>C	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.2900A>G	chr17.hg19:g.27283229T>C	ENSP00000312942:p.Tyr967Cys	0					SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|SEZ6_ENST00000335960.6_Silent_p.L499L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C	p.Y967C			1	2	3	2.015275	Q53EL9	SEZ6_HUMAN	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)	16	3328	-	Lung NSC(42;0.0137)		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	1	1	hg19	c.2900A>G	CCDS45639.1	1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177799	0.57692	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.42131	0.98	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.905	T	0.71702	-0.4513	10	0.87932	D	0	.	14.3395	0.66617	0.0:0.0:0.0:1.0	.	967;967	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	C	967;967;842;84	ENSP00000353440:Y967C	ENSP00000312942:Y842C	Y	-	2	0	0	SEZ6	24307355	24307355	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.466000	0.60148	2.055000	0.61198	0.402000	0.26972	TAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-3.538670	1	0.170000				20	19		70	67	0		1			0	0	17	0		9.999969e-01	0	0	0	0	0	0	20	70
MYO18A	399687	broad.mit.edu	37	17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1510					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)			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)			GTGAACCCTGCAATGTCCATG	0.552																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(4528-4530)Gca>Aca		myosin XVIIIA							106.0	106.0	106.0					17																	27421850		1935	4149	6084	SO:0001583	missense	399687	0	0					g.chr17:27421850C>T	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.4528G>A	chr17.hg19:g.27421850C>T	ENSP00000437073:p.Ala1510Thr	0					MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T	p.A1510T	NM_078471.3	NP_510880.2	1	2	3	2.015275	Q92614	MY18A_HUMAN	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)	30	4708	-			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	1	1	hg19	c.4528G>A	CCDS45642.1	1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232462	0.39498	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	4.89	0.63831	5.88	4.89	0.63831	Myosin tail (1);	0.187777	0.64402	D	0.000018	T	0.27933	0.0688	N	0.25647	0.755	0.33240	D	0.557108	B;B;B;B	0.20052	0.041;0.01;0.01;0.016	B;B;B;B	0.19946	0.016;0.011;0.007;0.027	T	0.33650	-0.9860	10	0.19590	T	0.45	.	9.5676	0.39409	0.1432:0.7866:0.0:0.0702	.	1122;1510;1510;1510	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	T	1510;1510;1510;1510;1510;406;406;1122	ENSP00000346291:A1510T;ENSP00000435932:A1510T;ENSP00000434228:A1510T;ENSP00000437073:A1510T	ENSP00000346291:A1510T	A	-	1	0	0	MYO18A	24445976	24445976	0.195000	0.23338	0.869000	0.34112	0.993000	0.82548	0.897000	0.28390	1.452000	0.47756	0.655000	0.94253	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_078471			106	104		383	378	1		1	1		0	0	100	0		1	1	0	46	0	131	0	106	383
MYO18A	399687	broad.mit.edu	37	17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					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)			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)			TTCTCCAGTTCGTGGTTGCGG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998771	0.990000	1.000000																										0				36						c.(4363-4365)Gaa>Aaa		myosin XVIIIA							31.0	35.0	34.0					17																	27423801		2051	4212	6263	SO:0001583	missense	399687	1	120924	17				g.chr17:27423801C>T	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.4363G>A	chr17.hg19:g.27423801C>T	ENSP00000437073:p.Glu1455Lys	0					MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	p.E1455K	NM_078471.3	NP_510880.2	1	2	3	2.015275	Q92614	MY18A_HUMAN	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)	28	4543	-			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	1	1	hg19	c.4363G>A	CCDS45642.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	0	MYO18A	24447927	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999250	1	0.170000	NM_078471			13	13		65	64	1		1	1		0	0	13	0		9.996638e-01	9.999998e-01	0	56	0	135	0	13	65
MYO18A	399687	broad.mit.edu	37	17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1169	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			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)			CAACTCACCCGGCTCAGGCCC	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3505-3507)Cgg>Tgg		myosin XVIIIA							45.0	51.0	49.0					17																	27430619		2057	4200	6257	SO:0001583	missense	399687	1	121004	29				g.chr17:27430619G>A	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.3505C>T	chr17.hg19:g.27430619G>A	ENSP00000437073:p.Arg1169Trp	0					MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W	p.R1169W	NM_078471.3	NP_510880.2	1	2	3	2.015275	Q92614	MY18A_HUMAN	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)	21	3685	-			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	1	1	hg19	c.3505C>T	CCDS45642.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387448	0.82902	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.29	5.29	0.74685	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.101322	0.64402	D	0.000002	D	0.92492	0.7616	L	0.52011	1.625	0.44337	D	0.997222	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.946;0.95;0.96;0.942;0.98	D	0.93184	0.6577	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:1.0:0.0	.	838;781;1169;1169;1169	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	W	1169;1169;1169;1169;1169;65;65;781	ENSP00000346291:R1169W;ENSP00000435932:R1169W;ENSP00000434228:R1169W;ENSP00000437073:R1169W	ENSP00000346291:R1169W	R	-	1	2	2	MYO18A	24454745	24454745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.168000	0.71908	2.464000	0.83262	0.561000	0.74099	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-3.596322	1	0.170000	NM_078471			51	50		194	189	1		1	1		0	0	64	0		1	1	0	37	0	83	0	51	194
MYO18A	399687	broad.mit.edu	37	17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	368	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				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)			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)			GAGCTCCTCAGATTTGAGTTG	0.592																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1	1.000000	0.720000	1	8.600000e-01	0.990000	0.949495	0.990000	1.000000																										0				36						c.(1102-1104)tCt>tAt		myosin XVIIIA							88.0	90.0	89.0					17																	27448960		2077	4209	6286	SO:0001583	missense	399687	0	0					g.chr17:27448960G>T	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.1103C>A	chr17.hg19:g.27448960G>T	ENSP00000437073:p.Ser368Tyr	0					MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	p.S368Y	NM_078471.3	NP_510880.2	1	2	3	2.015275	Q92614	MY18A_HUMAN	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)	4	1283	-			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	1	1	hg19	c.1103C>A	CCDS45642.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221731	0.79464	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	D;D;D;D	0.89123	-2.36;-2.47;-2.36;-2.36	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.052624	0.85682	D	0.000000	D	0.87748	0.6255	L	0.40543	1.245	0.48632	D	0.999683	P;D;D;D	0.54964	0.837;0.969;0.969;0.958	P;P;P;B	0.46110	0.504;0.461;0.461;0.362	D	0.89266	0.3601	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	37;368;368;368	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Y	368;368;368;368;368;48	ENSP00000346291:S368Y;ENSP00000435932:S368Y;ENSP00000434228:S368Y;ENSP00000437073:S368Y	ENSP00000346291:S368Y	S	-	2	0	0	MYO18A	24473086	24473086	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	5.170000	0.64990	2.655000	0.90218	0.655000	0.94253	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_078471			35	34		379	374	1		1	1		0	0	97	0		1	9.973705e-01	0	14	0	86	0	35	379
MYO18A	399687	broad.mit.edu	37	17	27493855	27493855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	ENST00000527372.1	-	2	284	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I|MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	35	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				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)			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)			CTCCTCCAGGCTCCGAAGCTC	0.537																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999651	0.990000	1.000000																										0				36						c.(103-105)aGc>aTc		myosin XVIIIA							37.0	46.0	43.0					17																	27493855		2191	4292	6483	SO:0001583	missense	399687	0	0					g.chr17:27493855C>A	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.104G>T	chr17.hg19:g.27493855C>A	ENSP00000437073:p.Ser35Ile	0					MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I	p.S35I	NM_078471.3	NP_510880.2	1	2	3	2.015275	Q92614	MY18A_HUMAN	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)	2	284	-			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	0	1	hg19	c.104G>T	CCDS45642.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325852	0.60743	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89343	-2.39;-2.5;-2.39;-2.39	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.29908	0.895	0.47374	D	0.9994	P;D;D	0.56746	0.944;0.977;0.961	P;P;P	0.54100	0.66;0.742;0.556	D	0.90440	0.4431	10	0.72032	D	0.01	.	17.9578	0.89075	0.0:1.0:0.0:0.0	.	35;35;35	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	I	35	ENSP00000346291:S35I;ENSP00000435932:S35I;ENSP00000434228:S35I;ENSP00000437073:S35I	ENSP00000346291:S35I	S	-	2	0	0	MYO18A	24517981	24517981	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.488000	0.66869	2.578000	0.87016	0.467000	0.42956	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	0	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_078471			12	11		43	42	1		1	1		0	0	10	0		9.993391e-01	9.999695e-01	0	27	0	55	0	12	43
TAOK1	57551	broad.mit.edu	37	17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348																																						ENST00000261716.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(703-705)tAt>tGt		TAO kinase 1							114.0	115.0	115.0					17																	27816730		2203	4300	6503	SO:0001583	missense	57551	0	0					g.chr17:27816730A>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.704A>G	chr17.hg19:g.27816730A>G	ENSP00000261716:p.Tyr235Cys	0					TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	p.Y235C	NM_020791.2	NP_065842.1	1	2	3	2.015275	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)	9	1223	+			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	1	1	hg19	c.704A>G	CCDS32601.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483511	0.84854	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85629	-2.01;-2.01	5.59	5.59	0.84812	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	D	0.90154	0.6923	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.931;0.992	D	0.91184	0.4978	10	0.87932	D	0	.	15.7746	0.78204	1.0:0.0:0.0:0.0	.	235;61;235	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	235	ENSP00000261716:Y235C;ENSP00000438819:Y235C	ENSP00000261716:Y235C	Y	+	2	0	0	TAOK1	24840856	24840856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.118000	0.64928	0.383000	0.25322	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_020791			82	81		435	429	1		1	1		0	0	88	0		1	9.984366e-01	0	3	0	50	0	82	435
TAOK1	57551	broad.mit.edu	37	17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	654					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423																																						ENST00000261716.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1960-1962)Cga>Tga		TAO kinase 1							94.0	85.0	88.0					17																	27849349		2203	4300	6503	SO:0001587	stop_gained	57551	0	0					g.chr17:27849349C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1960C>T	chr17.hg19:g.27849349C>T	ENSP00000261716:p.Arg654*	0					TAOK1_ENST00000536202.1_Intron	p.R654*	NM_020791.2	NP_065842.1	1	2	3	2.015275	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)	17	2479	+			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	0	1	hg19	c.1960C>T	CCDS32601.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.535808	0.99198	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	4.97	0.65823	5.96	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3638	0.83307	0.133:0.867:0.0:0.0	.	.	.	.	X	654	.	ENSP00000261716:R654X	R	+	1	2	2	TAOK1	24873475	24873475	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.231000	0.51294	1.486000	0.48398	0.643000	0.83706	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-2.510795	1	0.170000	NM_020791			64	63		348	342	1		1	1		0	0	69	0		1	9.997987e-01	0	2	0	68	0	64	348
ABHD15	116236	broad.mit.edu	37	17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	387						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602																																						ENST00000307201.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				10						c.(1159-1161)Cgc>Tgc		abhydrolase domain containing 15							62.0	64.0	63.0					17																	27889827		2203	4300	6503	SO:0001583	missense	116236	0	0					g.chr17:27889827G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1159C>T	chr17.hg19:g.27889827G>A	ENSP00000302657:p.Arg387Cys	0					RP11-68I3.2_ENST00000581474.1_RNA	p.R387C	NM_198147.2	NP_937790.2	1	2	3	2.015275	Q6UXT9	ABH15_HUMAN		2	1329	-			Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	1	1	hg19	c.1159C>T	CCDS32602.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174694	0.57692	.	.	ENSG00000168792	ENST00000307201	T	0.67698	-0.28	5.84	3.81	0.43845	5.84	3.81	0.43845	.	0.930570	0.09131	N	0.844335	T	0.66626	0.2808	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.9113	14.2909	0.66278	0.0:0.0:0.7297:0.2703	.	387	Q6UXT9	ABH15_HUMAN	C	387	ENSP00000302657:R387C	ENSP00000302657:R387C	R	-	1	0	0	ABHD15	24913953	24913953	0.052000	0.20516	0.641000	0.29422	0.954000	0.61252	2.244000	0.43124	0.789000	0.33779	-0.182000	0.12963	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.318844	1	0.170000	NM_198147			49	48		335	325	1		1	1		0	0	65	0		1	9.998509e-01	0	23	0	67	0	49	335
ABHD15	116236	broad.mit.edu	37	17	27893616	27893616	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000301057.7_5'Flank|TP53I13_ENST00000584522.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	123						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716																																						ENST00000307201.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				10						c.(367-369)gcC>gcA		abhydrolase domain containing 15							26.0	23.0	24.0					17																	27893616		2193	4277	6470	SO:0001819	synonymous_variant	116236	0	0					g.chr17:27893616G>T	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.369C>A	chr17.hg19:g.27893616G>T		0					TP53I13_ENST00000301057.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_Intron|RP11-68I3.4_ENST00000579050.1_RNA	p.A123A	NM_198147.2	NP_937790.2	1	2	3	2.015275	Q6UXT9	ABH15_HUMAN		1	539	-			Q96EC5	Silent	SNP	ENST00000307201.4	1	1	hg19	c.369C>A	CCDS32602.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_198147			31	31		156	156	0		1	1		0	0	37	0		1	9.281178e-01	0	12	0	13	0	31	156
TP53I13	90313	broad.mit.edu	37	17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	206						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662																																						ENST00000301057.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(616-618)aGg>aTg		tumor protein p53 inducible protein 13							20.0	23.0	22.0					17																	27899263		2023	4161	6184	SO:0001583	missense	90313	0	0					g.chr17:27899263G>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.617G>T	chr17.hg19:g.27899263G>T	ENSP00000301057:p.Arg206Met	0					RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	p.R206M	NM_138349.2	NP_612358.3	1	2	3	2.015275	Q8NBR0	P5I13_HUMAN		6	732	+			Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	1	1	hg19	c.617G>T	CCDS42289.1	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.273278	0.28414	N	0.015435	T	0.25975	0.0633	N	0.22421	0.69	0.23411	N	0.997732	P	0.45827	0.867	B	0.41764	0.366	T	0.13953	-1.0490	9	0.52906	T	0.07	-15.1754	11.6787	0.51444	0.0:0.0:1.0:0.0	.	206	Q8NBR0	P5I13_HUMAN	M	206	.	ENSP00000301057:R206M	R	+	2	0	0	TP53I13	24923389	24923389	0.185000	0.23213	0.999000	0.59377	0.241000	0.25554	0.688000	0.25422	2.199000	0.70637	0.462000	0.41574	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_138349			48	48		214	214	1		1	1		0	0	44	0		1	1	0	82	0	155	0	48	214
GIT1	28964	broad.mit.edu	37	17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	116	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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)			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)		TTGTGCACAAATGCCAGCATC	0.587																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(346-348)Ttt>Gtt		G protein-coupled receptor kinase interacting ArfGAP 1							92.0	81.0	85.0					17																	27909775		2203	4300	6503	SO:0001583	missense	28964	0	0					g.chr17:27909775A>C	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.346T>G	chr17.hg19:g.27909775A>C	ENSP00000225394:p.Phe116Val	0					GIT1_ENST00000394869.3_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA	p.F116V	NM_014030.3	NP_054749.2	1	2	3	2.015275	Q9Y2X7	GIT1_HUMAN		4	594	-			B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	1	1	hg19	c.346T>G	CCDS11250.1	1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750783	0.89753	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.50813	0.73;0.73	4.48	4.48	0.54585	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.69078	0.971;0.996;0.997;0.997	D;D;D;D	0.80764	0.951;0.991;0.994;0.981	D	0.84535	0.0635	10	0.87932	D	0	.	13.1832	0.59666	1.0:0.0:0.0:0.0	.	120;116;116;116	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	116	ENSP00000225394:F116V;ENSP00000378338:F116V	ENSP00000225394:F116V	F	-	1	0	0	GIT1	24933901	24933901	1.000000	0.71417	0.908000	0.35775	0.983000	0.72400	9.087000	0.94110	2.022000	0.59522	0.454000	0.30748	TTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_014030			58	58		204	202	1		1	1		0	0	42	0		1	1	0	48	0	110	0	58	204
GIT1	28964	broad.mit.edu	37	17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T	rs200603121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	52	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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)			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)		GGCGCTGTGGCGAAGGTGCTT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21121	0.0		0.0	False		,,,				2504	0.0				Colon(81;41 1719 20078 35068)	ENST00000225394.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(154-156)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	63.0	72.0		155,155	4.8	1.0	17		72	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	GIT1	NM_001085454.1,NM_014030.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	52/771,52/762	27910532	1,13003	2203	4299	6502	SO:0001583	missense	28964	10	121260	40				g.chr17:27910532C>T	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.155G>A	chr17.hg19:g.27910532C>T	ENSP00000225394:p.Arg52His	0					GIT1_ENST00000394869.3_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA	p.R52H	NM_014030.3	NP_054749.2	1	2	3	2.015275	Q9Y2X7	GIT1_HUMAN		2	403	-			B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	1	1	hg19	c.155G>A	CCDS11250.1	1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886017	0.72410	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.16201	0.385	0.80722	D	1	P;B;P;B	0.34662	0.462;0.407;0.462;0.068	B;B;B;B	0.29785	0.107;0.062;0.103;0.041	T	0.48317	-0.9046	10	0.25751	T	0.34	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	56;52;52;52	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	52	ENSP00000225394:R52H;ENSP00000378338:R52H	ENSP00000225394:R52H	R	-	2	0	0	GIT1	24934658	24934658	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	2.532000	0.45659	2.688000	0.91661	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.659665	1	0.170000	NM_014030			32	32		139	135	1		1	1		0	0	38	0		1	9.999991e-01	0	34	0	68	0	32	139
ANKRD13B	124930	broad.mit.edu	37	17	27939445	27939445	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	428						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ACATCCTCAACGCCCGCATCA	0.637																																						ENST00000394859.3	1.000000	0.700000	1	9.400000e-01	0.990000	0.969034	0.990000	1.000000																										0				16						c.(1282-1284)aaC>aaT		ankyrin repeat domain 13B							41.0	42.0	42.0					17																	27939445		2203	4299	6502	SO:0001819	synonymous_variant	124930	1	121358	23				g.chr17:27939445C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1284C>T	chr17.hg19:g.27939445C>T		0					RP11-68I3.2_ENST00000581474.1_RNA	p.N428N	NM_152345.4	NP_689558.4	1	2	3	2.015275	Q86YJ7	AN13B_HUMAN		12	1438	+			Q8N7S9	Silent	SNP	ENST00000394859.3	0	1	hg19	c.1284C>T	CCDS11251.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.670470	1	0.170000	NM_152345			13	13		115	113	1		1	1		0	0	20	0		9.995861e-01	8.984038e-01	0	7	0	31	0	13	115
EFCAB5	374786	broad.mit.edu	37	17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488																																						ENST00000394835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1825-1827)cGc>cAc		EF-hand calcium binding domain 5							246.0	236.0	239.0					17																	28380798		2112	4227	6339	SO:0001583	missense	374786	0	0					g.chr17:28380798G>A	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.1826G>A	chr17.hg19:g.28380798G>A	ENSP00000378312:p.Arg609His	0					EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H	p.R609H	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		10	2018	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	1	1	hg19	c.1826G>A	CCDS11254.2	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881093	0.33255	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	-9.32	0.00643	5.78	-9.32	0.00643	.	1.031300	0.07709	N	0.941752	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.18610	0.017;0.029;0.011;0.029;0.001;0.006	B;B;B;B;B;B	0.12837	0.003;0.008;0.004;0.005;0.0;0.003	T	0.15378	-1.0439	10	0.15499	T	0.54	5.8403	2.6649	0.05041	0.4122:0.0884:0.3233:0.1761	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	H	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553H;ENSP00000445575:R266H;ENSP00000378312:R609H;ENSP00000322003:R609H;ENSP00000378309:R609H;ENSP00000368012:R609H;ENSP00000417009:R415H	ENSP00000322003:R609H	R	+	2	0	0	EFCAB5	25404924	25404924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.602000	0.00891	-1.290000	0.02372	-1.561000	0.00884	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_198529			104	103		544	530	1		1	0		0	0	175	0		1	0	0	0	0	1	0	104	544
EFCAB5	374786	broad.mit.edu	37	17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	667							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378																																						ENST00000394835.3	1.000000	0.560000	1	7.300000e-01	0.960000	0.896154	0.960000	1.000000																										0				43						c.(1999-2001)aTa>aCa		EF-hand calcium binding domain 5							89.0	80.0	83.0					17																	28380972		1858	4108	5966	SO:0001583	missense	374786	1	120818	33				g.chr17:28380972T>C	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.2000T>C	chr17.hg19:g.28380972T>C	ENSP00000378312:p.Ile667Thr	0					EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T	p.I667T	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		10	2192	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	1	1	hg19	c.2000T>C	CCDS11254.2	1	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176404	0.09443	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.97;2.97;2.29;1.97;2.97	5.14	-5.04	0.02964	5.14	-5.04	0.02964	.	2.425250	0.01699	N	0.027091	T	0.13586	0.0329	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.17268	0.012;0.021;0.001;0.002;0.007;0.001	B;B;B;B;B;B	0.10450	0.004;0.003;0.001;0.002;0.005;0.001	T	0.10894	-1.0610	10	0.11794	T	0.64	3.3471	2.0208	0.03509	0.1158:0.2281:0.3554:0.3007	.	611;611;667;667;667;667	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	T	611;410;324;667;667;667;667;611;473	ENSP00000440619:I611T;ENSP00000445575:I324T;ENSP00000378312:I667T;ENSP00000322003:I667T;ENSP00000378309:I667T;ENSP00000368012:I667T;ENSP00000417009:I473T	ENSP00000322003:I667T	I	+	2	0	0	EFCAB5	25405098	25405098	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.336000	0.01105	-0.899000	0.03901	0.524000	0.50904	ATA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-19.824530	1	0.170000	NM_198529			15	15		177	174	0		1			0	0	53	0		9.998788e-01	0	0	0	0	0	0	15	177
EFCAB5	374786	broad.mit.edu	37	17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Intron|AC104984.4_ENST00000583250.1_RNA|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	869	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418																																						ENST00000394835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2605-2607)Cga>Tga		EF-hand calcium binding domain 5							115.0	115.0	115.0					17																	28386587		1859	4087	5946	SO:0001587	stop_gained	374786	6	120802	40				g.chr17:28386587C>T	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.2605C>T	chr17.hg19:g.28386587C>T	ENSP00000378312:p.Arg869*	0					RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron	p.R869*	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		14	2797	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	0	1	hg19	c.2605C>T	CCDS11254.2	1	.	.	.	.	.	.	.	.	.	.	C	38	6.910587	0.97928	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	4.41	0.53225	5.39	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7418	13.2178	0.59871	0.1606:0.8394:0.0:0.0	.	.	.	.	X	869	.	ENSP00000368012:R869X	R	+	1	2	2	EFCAB5	25410713	25410713	0.808000	0.29022	0.089000	0.20774	0.072000	0.16883	1.723000	0.38053	1.246000	0.43901	-0.538000	0.04264	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-2.779764	1	0.170000	NM_198529			87	86		376	375	1		1			0	0	98	0		1	0	0	0	0	0	0	87	376
EFCAB5	374786	broad.mit.edu	37	17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Intron|AC104984.4_ENST00000583250.1_RNA|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	902	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388																																						ENST00000394835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2704-2706)aaG>aaT		EF-hand calcium binding domain 5							65.0	64.0	64.0					17																	28386688		1838	4092	5930	SO:0001583	missense	374786	0	0					g.chr17:28386688G>T	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.2706G>T	chr17.hg19:g.28386688G>T	ENSP00000378312:p.Lys902Asn	0					RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron	p.K902N	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		14	2898	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	1	1	hg19	c.2706G>T	CCDS11254.2	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424923	0.62733	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.21031	2.03;2.03;2.03	5.35	3.33	0.38152	5.35	3.33	0.38152	EF-hand-like domain (1);	.	.	.	.	T	0.43567	0.1253	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41752	-0.9491	9	0.87932	D	0	-17.5267	10.4304	0.44405	0.1645:0.0:0.8355:0.0	.	902;902	B5MEA3;A4FU69	.;EFCB5_HUMAN	N	902	ENSP00000378312:K902N;ENSP00000378309:K902N;ENSP00000368012:K902N	ENSP00000368012:K902N	K	+	3	2	2	EFCAB5	25410814	25410814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.089000	0.50183	1.259000	0.44117	0.449000	0.29647	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.608967	1	0.170000	NM_198529			53	51		186	183	1		1			0	0	60	0		1	0	0	0	0	0	0	53	186
EFCAB5	374786	broad.mit.edu	37	17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	rs146481233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1256							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20827	0.0		0.001	False		,,,				2504	0.0					ENST00000394835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(3766-3768)cGt>cAt		EF-hand calcium binding domain 5							126.0	123.0	124.0					17																	28417522		1852	4094	5946	SO:0001583	missense	374786	2	120806	36				g.chr17:28417522G>A	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.3767G>A	chr17.hg19:g.28417522G>A	ENSP00000378312:p.Arg1256His	0					EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	p.R1256H	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		20	3959	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	1	1	hg19	c.3767G>A	CCDS11254.2	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.93	3.258665	0.59321	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.24538	1.85;1.92;1.91	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000071	T	0.46328	0.1387	M	0.74258	2.255	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.861;0.861	T	0.41910	-0.9482	10	0.51188	T	0.08	-12.5922	13.5817	0.61907	0.0768:0.0:0.9232:0.0	.	1132;1256	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1256;1132;938	ENSP00000378312:R1256H;ENSP00000322003:R1132H;ENSP00000417009:R938H	ENSP00000322003:R1132H	R	+	2	0	0	EFCAB5	25441648	25441648	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.360000	0.59455	2.535000	0.85469	0.655000	0.94253	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_198529			110	106		415	409	1		1			0	0	122	0		1	0	0	0	0	0	0	110	415
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding (GO:0005509)	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353																																						ENST00000394835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P1496A(1)	lung(1)	43						c.(4486-4488)Cca>Tca		EF-hand calcium binding domain 5							152.0	141.0	145.0					17																	28435016		1862	4103	5965	SO:0001583	missense	374786	0	0					g.chr17:28435016C>T	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.4486C>T	chr17.hg19:g.28435016C>T	ENSP00000378312:p.Pro1496Ser	0					EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|RP11-1148O4.2_ENST00000582938.1_RNA	p.P1496S	NM_198529.3	NP_940931	1	2	3	2.015275	A4FU69	EFCB5_HUMAN		23	4678	+			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	1	1	hg19	c.4486C>T	CCDS11254.2	1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565278	0.65651	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.17213	3.03;3.02;2.29;3.03	4.69	2.08	0.27032	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.14399	0.0348	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.046;0.1	B;B;B	0.30105	0.066;0.038;0.111	T	0.15636	-1.0430	10	0.38643	T	0.18	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	S	1496;1372;968;1178	ENSP00000378312:P1496S;ENSP00000322003:P1372S;ENSP00000378309:P968S;ENSP00000417009:P1178S	ENSP00000322003:P1372S	P	+	1	0	0	EFCAB5	25459142	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_198529			81	80		392	387	1		1			0	0	132	0		1	0	0	0	0	0	0	81	392
SLC6A4	6532	broad.mit.edu	37	17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	rs28914832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity). {ECO:0000269|PubMed:14593431, ECO:0000269|PubMed:17913921}.		brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AAGAAGATGATGGCAAAGAAA	0.537													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21874	0.0		0.0	False		,,,				2504	0.0					ENST00000401766.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				25	GRCh37	CM033983|CM057406	SLC6A4	M	rs28914832	c.(1273-1275)Atc>Gtc		solute carrier family 6 (neurotransmitter transporter), member 4	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	139.0	129.0	133.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1273	5.2	1.0	17	dbSNP_125	133	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SLC6A4	NM_001045.4	29	0,13,6490	CC,CT,TT		0.1279,0.0454,0.1	benign	425/631	28538374	13,12993	2203	4300	6503	SO:0001583	missense	6532	88	121412	51				g.chr17:28538374T>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1273A>G	chr17.hg19:g.28538374T>C	ENSP00000385822:p.Ile425Val	0					SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V	p.I425V			1	2	3	2.015275	P31645	SC6A4_HUMAN		9	1785	-			Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	1	1	hg19	c.1273A>G	CCDS11256.1	1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510509	0.44660	4.54E-4	0.001279	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.33792	1.035	0.80722	D	1	B	0.17465	0.022	B	0.25405	0.06	T	0.56378	-0.7989	10	0.25106	T	0.35	.	14.4528	0.67397	0.0:0.0:0.0:1.0	.	425	P31645	SC6A4_HUMAN	V	467;425;425	ENSP00000385822:I425V;ENSP00000261707:I425V	ENSP00000261707:I425V	I	-	1	0	0	SLC6A4	25562500	25562500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.202000	0.70862	0.379000	0.24179	ATC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.826351	1	0.170000	NM_001045			35	35		183	178	1		1			0	0	57	0		1	0	0	0	0	0	0	35	183
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A	rs376964895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	346	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607																																						ENST00000254695.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1036-1038)Gcc>Acc		RAP1 GTPase activating protein 2		G	THR/ALA,THR/ALA	1,4331	2.1+/-5.4	0,1,2165	61.0	63.0	62.0		991,1036	1.3	1.0	17		62	0,8584		0,0,4292	no	missense,missense	RAP1GAP2	NM_001100398.1,NM_015085.4	58,58	0,1,6457	AA,AG,GG		0.0,0.0231,0.0077	benign,benign	331/716,346/731	2898752	1,12915	2166	4292	6458	SO:0001583	missense	23108	3	121294	33				g.chr17:2898752G>A	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.1036G>A	chr17.hg19:g.2898752G>A	ENSP00000254695:p.Ala346Thr	0					RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T	p.A346T	NM_015085.4	NP_055900.4	1	2	3	2.017774	Q684P5	RPGP2_HUMAN		13	1126	+			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	1	1	hg19	c.1036G>A	CCDS45573.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869383	0.32977	2.31E-4	0.0	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.72	1.34	0.21922	5.72	1.34	0.21922	Rap/ran-GAP (2);	0.529823	0.23081	N	0.052147	D	0.83450	0.5257	N	0.05608	-0.01	0.30925	N	0.727525	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.72972	-0.4129	10	0.13853	T	0.58	-16.4671	7.4483	0.27223	0.6114:0.0:0.3886:0.0	.	331;346	Q684P5-2;Q684P5	.;RPGP2_HUMAN	T	346;331;327;346	ENSP00000254695:A346T;ENSP00000389824:A331T;ENSP00000439688:A327T;ENSP00000444890:A346T	ENSP00000254695:A346T	A	+	1	0	0	RAP1GAP2	2845502	2845502	0.021000	0.18746	0.984000	0.44739	0.997000	0.91878	1.245000	0.32790	0.271000	0.22005	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				65	64		307	304	1		1	1		0	0	70	0		1	9.952662e-01	0	16	0	25	0	65	307
TBC1D29	26083	broad.mit.edu	37	17	28890251	28890251	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000580161.1	+	6	2758	c.261T>C	c.(259-261)atT>atC	p.I87I	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_Missense_Mutation_p.F71S|TBC1D29_ENST00000579181.1_Silent_p.I87I			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	87							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622																																						ENST00000580161.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(259-261)atT>atC		TBC1 domain family, member 29							24.0	24.0	24.0					17																	28890251		2203	4300	6503	SO:0001819	synonymous_variant	26083	0	0					g.chr17:28890251T>C	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.261T>C	chr17.hg19:g.28890251T>C		0					RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000579181.1_Silent_p.I87I|TBC1D29_ENST00000584297.1_Missense_Mutation_p.F71S	p.I87I			1	2	3	2.015275	Q9UFV1	TBC29_HUMAN		6	2758	+		Myeloproliferative disorder(56;0.0255)		Silent	SNP	ENST00000580161.1	1	1	hg19	c.261T>C	CCDS32606.1	1	.	.	.	.	.	.	.	.	.	.	.	5.244	0.230510	0.09969	.	.	ENSG00000197689	ENST00000378698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.39079	D	0.96086	.	.	.	.	.	.	T	0.45469	-0.9259	3	0.25751	T	0.34	.	.	.	.	.	.	.	.	S	71	.	ENSP00000367970:F71S	F	+	2	0	0	TBC1D29	25914377	25914377	0.044000	0.20184	0.047000	0.18901	0.047000	0.14425	-0.099000	0.11007	0.093000	0.17368	0.092000	0.15492	TTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_015594			29	28		98	96	1		1			0	0	15	0		1	0	0	0	0	0	0	29	98
ATAD5	79915	broad.mit.edu	37	17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	520					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			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)				TAGAATGAGTTTAAGACAAAG	0.318																																						ENST00000321990.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1558-1560)Tta>Gta		ATPase family, AAA domain containing 5							57.0	66.0	62.0					17																	29162657		2196	4291	6487	SO:0001583	missense	79915	0	0					g.chr17:29162657T>G		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.1558T>G	chr17.hg19:g.29162657T>G	ENSP00000313171:p.Leu520Val	0					CTD-2349P21.11_ENST00000580873.1_RNA	p.L520V	NM_024857.3	NP_079133.3	1	2	3	2.015275	Q96QE3	ATAD5_HUMAN		2	1936	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	1	1	hg19	c.1558T>G	CCDS11260.1	1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739325	0.15642	.	.	ENSG00000176208	ENST00000321990	T	0.09911	2.93	5.76	4.67	0.58626	5.76	4.67	0.58626	.	6.041910	0.00166	N	0.000001	T	0.09949	0.0244	L	0.43923	1.385	0.20975	N	0.999815	B;B	0.31193	0.312;0.108	B;B	0.25884	0.064;0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	7.0325	0.24975	0.0:0.0747:0.2951:0.6302	.	520;520	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	520	ENSP00000313171:L520V	ENSP00000313171:L520V	L	+	1	2	2	ATAD5	26186783	26186783	0.816000	0.29132	1.000000	0.80357	0.983000	0.72400	0.313000	0.19415	0.989000	0.38761	0.533000	0.62120	TTA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_024857			72	70		274	265	1		1	0		0	0	103	0		1	1.143732e-01	0	1	0	2	0	72	274
ATAD5	79915	broad.mit.edu	37	17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1162					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			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)				CTCTTCCCAGCGCAGTGGTAG	0.353																																						ENST00000321990.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3484-3486)Cgc>Tgc		ATPase family, AAA domain containing 5							121.0	119.0	120.0					17																	29196541		2203	4300	6503	SO:0001583	missense	79915	0	0					g.chr17:29196541C>T		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.3484C>T	chr17.hg19:g.29196541C>T	ENSP00000313171:p.Arg1162Cys	0						p.R1162C	NM_024857.3	NP_079133.3	1	2	3	2.015275	Q96QE3	ATAD5_HUMAN		14	3862	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	1	1	hg19	c.3484C>T	CCDS11260.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004580	0.54254	.	.	ENSG00000176208	ENST00000321990	T	0.19806	2.12	5.62	5.62	0.85841	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169939	0.51477	D	0.000090	T	0.61299	0.2336	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72693	-0.4216	10	0.87932	D	0	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	1162;1162	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1162	ENSP00000313171:R1162C	ENSP00000313171:R1162C	R	+	1	0	0	ATAD5	26220667	26220667	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.581000	0.67471	2.642000	0.89623	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_024857			84	82		347	339	1		1	0		0	0	56	0		1	1.758668e-01	0	1	0	3	0	84	347
ATAD5	79915	broad.mit.edu	37	17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1199					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			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)				CTACTACATAGGCAAGTCACC	0.308																																						ENST00000321990.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3595-3597)Ggc>Tgc		ATPase family, AAA domain containing 5							68.0	70.0	70.0					17																	29196652		2203	4300	6503	SO:0001583	missense	79915	0	0					g.chr17:29196652G>T		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.3595G>T	chr17.hg19:g.29196652G>T	ENSP00000313171:p.Gly1199Cys	0						p.G1199C	NM_024857.3	NP_079133.3	1	2	3	2.015275	Q96QE3	ATAD5_HUMAN		14	3973	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	1	1	hg19	c.3595G>T	CCDS11260.1	1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548088	0.27652	.	.	ENSG00000176208	ENST00000321990	D	0.95272	-3.66	5.49	4.52	0.55395	5.49	4.52	0.55395	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.172820	0.50627	D	0.000112	D	0.93831	0.8027	L	0.29908	0.895	0.37494	D	0.916487	D;D	0.76494	0.999;0.999	D;D	0.71414	0.934;0.973	D	0.93903	0.7190	10	0.72032	D	0.01	.	6.863	0.24077	0.2967:0.0:0.7033:0.0	.	1199;1199	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1199	ENSP00000313171:G1199C	ENSP00000313171:G1199C	G	+	1	0	0	ATAD5	26220778	26220778	0.946000	0.32159	0.940000	0.37924	0.962000	0.63368	1.684000	0.37649	1.317000	0.45149	0.561000	0.74099	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.203450	1	0.170000	NM_024857			62	62		274	270	1		1	0		0	0	48	0		1	2.347531e-01	0	1	0	4	0	62	274
ADAP2	55803	broad.mit.edu	37	17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000330889.3	+	2	528	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	65	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567																																						ENST00000330889.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Unknown(1)	p.?(1)	central_nervous_system(1)	13						c.(193-195)Cga>Tga		ArfGAP with dual PH domains 2							158.0	155.0	156.0					17																	29250056		2203	4300	6503	SO:0001587	stop_gained	55803	1	121412	32				g.chr17:29250056C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.193C>T	chr17.hg19:g.29250056C>T	ENSP00000329468:p.Arg65*	0					ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	p.R65*	NM_018404.2	NP_060874.1	1	2	3	2.015275	Q9NPF8	ADAP2_HUMAN		2	528	+			Q8N4Q6|Q96SD5	Nonsense_Mutation	SNP	ENST00000330889.3	0	1	hg19	c.193C>T	CCDS11261.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021109	0.93462	.	.	ENSG00000184060	ENST00000330889	.	.	.	5.59	0.397	0.16314	5.59	0.397	0.16314	.	0.317299	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3014	0.73955	0.2593:0.7407:0.0:0.0	.	.	.	.	X	65	.	ENSP00000329468:R65X	R	+	1	2	2	ADAP2	26274182	26274182	0.405000	0.25336	0.980000	0.43619	0.769000	0.43574	0.593000	0.23999	0.047000	0.15862	-0.397000	0.06425	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-20.000000	1	0.170000	NM_018404			160	157		676	663	0		1	1		0	0	172	0		1	9.997207e-01	0	3	0	49	0	160	676
ADAP2	55803	broad.mit.edu	37	17	29284866	29284866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000330889.3	+	11	1460	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	RN7SL138P_ENST00000577405.1_RNA|ADAP2_ENST00000580525.1_Silent_p.E381E|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582																																						ENST00000330889.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997726	0.990000	1.000000																										1	Unknown(1)	p.?(1)	central_nervous_system(1)	13						c.(1123-1125)gaG>gaA		ArfGAP with dual PH domains 2							67.0	54.0	59.0					17																	29284866		2203	4300	6503	SO:0001819	synonymous_variant	55803	0	0					g.chr17:29284866G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.1125G>A	chr17.hg19:g.29284866G>A		0					ADAP2_ENST00000580525.1_Silent_p.E381E|AC091177.1_ENST00000442757.1_RNA|RN7SL138P_ENST00000577405.1_RNA	p.E375E	NM_018404.2	NP_060874.1	1	2	3	2.015275	Q9NPF8	ADAP2_HUMAN		11	1460	+			Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	1	1	hg19	c.1125G>A	CCDS11261.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.999980	1	0.170000	NM_018404			15	14		90	90	1		1	1		0	0	23	0		9.999072e-01	9.956379e-01	0	5	0	53	0	15	90
NF1	4763	broad.mit.edu	37	17	29661915	29661915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661915C>T	ENST00000358273.4	+	40	6255	c.5872C>T	c.(5872-5874)Cgt>Tgt	p.R1958C	NF1_ENST00000356175.3_Missense_Mutation_p.R1937C|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					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.?(3)	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)		AAATCTAGTTCGTTTTTGCAA	0.358			"""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)																												ENST00000358273.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Neurofibromatosis type 1	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	17q12	4763	D, Mis, N, F, S, O	neurofibromatosis type 1 gene				O	O		neurofibroma, glioma	neurofibroma, glioma	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	599						c.(5872-5874)Cgt>Tgt		neurofibromin 1							126.0	117.0	120.0					17																	29661915		2203	4300	6503	SO:0001583	missense	4763	0	0		Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	g.chr17:29661915C>T		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.5872C>T	chr17.hg19:g.29661915C>T	ENSP00000351015:p.Arg1958Cys	0	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.R1937C|NF1_ENST00000417592.2_5'Flank	p.R1958C	NM_001042492.2	NP_001035957.1	1	2	3	2.015275	P21359	NF1_HUMAN		40	6255	+		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)	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	1	0	hg19	c.5872C>T	CCDS42292.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.081652	0.94050	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.93426	-3.22;-3.22;-3.22	5.54	5.54	0.83059	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.917	D	0.96854	0.9627	10	0.87932	D	0	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	1937;1958	P21359-2;P21359	.;NF1_HUMAN	C	1958;1937;1603	ENSP00000351015:R1958C;ENSP00000348498:R1937C;ENSP00000389907:R1603C	ENSP00000348498:R1937C	R	+	1	0	0	NF1	26686041	26686041	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.578000	0.67450	2.620000	0.88729	0.557000	0.71058	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-3.153432	1	0.170000	NM_000267			54	53		239	234	1		1	1		0	0	55	0		1	9.998566e-01	0	11	0	50	0	54	239
NF1	4763	broad.mit.edu	37	17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1972					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.?(3)	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)		ACAAAGAGTTACTGCTATTCT	0.378			"""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)																												ENST00000358273.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Neurofibromatosis type 1	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	17q12	4763	D, Mis, N, F, S, O	neurofibromatosis type 1 gene				O	O		neurofibroma, glioma	neurofibroma, glioma	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	599						c.(5914-5916)Act>Gct		neurofibromin 1							126.0	113.0	118.0					17																	29661957		2203	4300	6503	SO:0001583	missense	4763	0	0		Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	g.chr17:29661957A>G		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.5914A>G	chr17.hg19:g.29661957A>G	ENSP00000351015:p.Thr1972Ala	0	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000417592.2_5'Flank	p.T1972A	NM_001042492.2	NP_001035957.1	1	2	3	2.015275	P21359	NF1_HUMAN		40	6297	+		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)	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	1	1	hg19	c.5914A>G	CCDS42292.1	1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663107	0.29515	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.27256	1.68;1.68;1.68	5.54	5.54	0.83059	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.01473	-0.845	0.80722	D	1	B;B	0.26147	0.143;0.0	B;B	0.20184	0.028;0.002	T	0.26677	-1.0096	10	0.17369	T	0.5	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1951;1972	P21359-2;P21359	.;NF1_HUMAN	A	1972;1951;1617	ENSP00000351015:T1972A;ENSP00000348498:T1951A;ENSP00000389907:T1617A	ENSP00000348498:T1951A	T	+	1	0	0	NF1	26686083	26686083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	ACT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000267			65	65		263	261	1		1	1		0	0	49	0		1	9.962176e-01	0	8	0	29	0	65	263
OR1D2	4991	broad.mit.edu	37	17	2995640	2995640	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	ENST00000331459.1	-	1	650	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	217					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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCAGCACATAGGAAATGATCA	0.468																																						ENST00000331459.1	1.000000	0.290000	6.600000e-01	3.700000e-01	0.480000	0.538062	0.480000	0.460000																										0				15						c.(649-651)tcC>tcA		olfactory receptor, family 1, subfamily D, member 2							111.0	109.0	110.0					17																	2995640		2203	4300	6503	SO:0001819	synonymous_variant	4991	0	0					g.chr17:2995640G>T	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.651C>A	chr17.hg19:g.2995640G>T		0						p.S217S	NM_002548.2	NP_002539.2	1	2	3	2.017774	P34982	OR1D2_HUMAN		1	650	-			Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	1	1	hg19	c.651C>A	CCDS11019.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-2.847557	1	0.170000	NM_002548			18	18		442	432	0		1			0	0	108	0		9.999790e-01	0	0	0	0	0	0	18	442
RAB11FIP4	84440	broad.mit.edu	37	17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622																																						ENST00000325874.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1456-1458)cGc>cAc		RAB11 family interacting protein 4 (class II)							90.0	85.0	86.0					17																	29855524		2203	4300	6503	SO:0001583	missense	84440	3	121412	39				g.chr17:29855524G>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1457G>A	chr17.hg19:g.29855524G>A	ENSP00000312837:p.Arg486His	0					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	p.R486H	NM_032932.3	NP_116321.2	1	2	3	2.015275	Q86YS3	RFIP4_HUMAN		12	1686	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	1	1	hg19	c.1457G>A	CCDS11267.1	1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082171	0.55861	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.81046	-0.1110	8	.	.	.	-26.563	17.1298	0.86724	0.0:0.0:1.0:0.0	.	384;486	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	H	486	.	.	R	+	2	0	0	RAB11FIP4	26879644	26879644	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.711000	0.92665	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_032932			78	77		373	367	1		1	1		0	0	71	0		1	9.977099e-01	0	16	0	29	0	78	373
LRRC37B	114659	broad.mit.edu	37	17	30349743	30349743	+	Silent	SNP	C	C	T	rs146053152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000341671.7	+	1	1583	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000327564.7_Silent_p.C553C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	526						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				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)				TCTGCACCTGCGGAGATGAGA	0.532																																						ENST00000341671.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1576-1578)tgC>tgT		leucine rich repeat containing 37B		C		0,4402		0,0,2201	75.0	69.0	71.0		1578	-1.8	0.0	17	dbSNP_134	71	2,8586		0,2,4292	no	coding-synonymous	LRRC37B	NM_052888.2		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		526/948	30349743	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	114659	35	121342	47				g.chr17:30349743C>T	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.1578C>T	chr17.hg19:g.30349743C>T		0					LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000327564.7_Silent_p.C553C	p.C526C	NM_052888.2	NP_443120.2	1	2	3	2.015275	Q96QE4	LR37B_HUMAN		1	1583	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	1	1	hg19	c.1578C>T	CCDS32609.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1		2	2	2	0		0	0	156		156	173	1	2.060000	-3.857484	1	0.170000	NM_052888			109	95		493	433	1		1	0		0	0	156	0		1	3.733869e-01	0	1	0	6	0	109	493
LRRC37B	114659	broad.mit.edu	37	17	30361959	30361959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000341671.7	+	6	2012	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000327564.7_Silent_p.V696V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	669						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				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)				TGACTACTGTCGAAGATCCAT	0.318																																						ENST00000341671.7	1.000000	0.700000	1	8.900000e-01	0.990000	0.960467	0.990000	1.000000																										0				29						c.(2005-2007)gtC>gtT		leucine rich repeat containing 37B							59.0	56.0	57.0					17																	30361959		2203	4297	6500	SO:0001819	synonymous_variant	114659	1	121400	28				g.chr17:30361959C>T	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.2007C>T	chr17.hg19:g.30361959C>T		0					LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000327564.7_Silent_p.V696V	p.V669V	NM_052888.2	NP_443120.2	1	2	3	2.015275	Q96QE4	LR37B_HUMAN		6	2012	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	0	1	hg19	c.2007C>T	CCDS32609.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	0	0	1		15	3	2	1		1	1	54		54	53	1	2.060000	-3.221886	1	0.170000	NM_052888			21	21		209	206	1		1	0		1	0	54	0		8.773258e-01	1.938125e-01	0	2	0	13	0	21	209
LRRC37B	114659	broad.mit.edu	37	17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000341671.7	+	7	2092	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	696						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				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)				ACAACACTTAAGAACATTCTC	0.303																																						ENST00000341671.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2086-2088)aAg>aCg		leucine rich repeat containing 37B							187.0	177.0	180.0					17																	30362622		2203	4299	6502	SO:0001583	missense	114659	0	0					g.chr17:30362622A>C	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.2087A>C	chr17.hg19:g.30362622A>C	ENSP00000340519:p.Lys696Thr	0					LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T	p.K696T	NM_052888.2	NP_443120.2	1	2	3	2.015275	Q96QE4	LR37B_HUMAN		7	2092	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	1	1	hg19	c.2087A>C	CCDS32609.1	1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.110991	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.52295	0.67;0.67;0.84;0.67	2.72	2.72	0.32119	2.72	2.72	0.32119	.	.	.	.	.	T	0.33206	0.0855	L	0.33485	1.01	0.09310	N	1	P;B	0.35174	0.488;0.208	B;B	0.32211	0.142;0.016	T	0.19063	-1.0317	9	0.52906	T	0.07	.	7.2683	0.26242	1.0:0.0:0.0:0.0	.	645;696	Q17RC9;Q96QE4	.;LR37B_HUMAN	T	614;723;645;696	ENSP00000443345:K614T;ENSP00000332536:K723T;ENSP00000378202:K645T;ENSP00000340519:K696T	ENSP00000332536:K723T	K	+	2	0	0	LRRC37B	27386735	27386735	0.971000	0.33674	0.038000	0.18304	0.005000	0.04900	1.316000	0.33620	1.474000	0.48178	0.450000	0.29827	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1		2	2	2	0		0	0	201		201	201	1	2.060000	-20.000000	1	0.170000	NM_052888			171	170		702	683	1		1	0		0	0	201	0		1	9.736289e-01	0	0	0	26	0	171	702
LRRC37B	114659	broad.mit.edu	37	17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000341671.7	+	10	2538	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	845						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				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)				GCTCATGTTGCGAACAGGCCT	0.438																																						ENST00000341671.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2533-2535)Cga>Tga		leucine rich repeat containing 37B							79.0	70.0	73.0					17																	30376270		2203	4298	6501	SO:0001587	stop_gained	114659	1	121318	33				g.chr17:30376270C>T	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.2533C>T	chr17.hg19:g.30376270C>T	ENSP00000340519:p.Arg845*	0					LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*	p.R845*	NM_052888.2	NP_443120.2	1	2	3	2.015275	Q96QE4	LR37B_HUMAN		10	2538	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	Q17RC9|Q5YKG6	Nonsense_Mutation	SNP	ENST00000341671.7	0	1	hg19	c.2533C>T	CCDS32609.1	1	.	.	.	.	.	.	.	.	.	.	N	8.578	0.881682	0.17467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.78	-2.18	0.07037	1.78	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1537	0.00096	0.3506:0.2442:0.1678:0.2374	.	.	.	.	X	763;872;794;845	.	ENSP00000332536:R872X	R	+	1	2	2	LRRC37B	27400383	27400383	0.005000	0.15991	0.006000	0.13384	0.000000	0.00434	0.839000	0.27586	-0.642000	0.05480	-2.596000	0.00163	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_052888			70	70		294	291	1		1	1		0	0	91	0		1	9.846261e-01	0	5	0	25	0	70	294
RHBDL3	162494	broad.mit.edu	37	17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000269051.4	+	8	940	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	309						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552																																						ENST00000269051.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(925-927)gCt>gAt		rhomboid, veinlet-like 3 (Drosophila)							149.0	149.0	149.0					17																	30643294		2203	4300	6503	SO:0001583	missense	162494	0	0					g.chr17:30643294C>A	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.926C>A	chr17.hg19:g.30643294C>A	ENSP00000269051:p.Ala309Asp	0					RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	p.A309D	NM_138328.2	NP_612201.1	1	2	3	2.015275	P58872	RHBL3_HUMAN		8	940	+		Breast(31;0.116)|Ovarian(249;0.182)	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	1	1	hg19	c.926C>A	CCDS32613.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934735	0.73442	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	5.56	4.58	0.56647	5.56	4.58	0.56647	Peptidase S54, rhomboid domain (1);	0.051784	0.85682	D	0.000000	T	0.18593	0.0446	M	0.62088	1.915	0.58432	D	0.999999	P;P	0.44380	0.834;0.834	B;B	0.44085	0.44;0.44	T	0.01105	-1.1450	10	0.62326	D	0.03	.	9.8851	0.41257	0.0:0.7871:0.1404:0.0724	.	301;309	Q495Y5;P58872	.;RHBL3_HUMAN	D	309;301;211	ENSP00000269051:A309D;ENSP00000442092:A301D;ENSP00000466508:A211D	ENSP00000269051:A309D	A	+	2	0	0	RHBDL3	27667407	27667407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.499000	0.53310	1.324000	0.45282	0.563000	0.77884	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	1	0	1		2	2	2	0		0	0	214		214	213	1	2.060000	-20.000000	1	0.170000	NM_138328			219	214		851	843	1		1			0	0	214	0		1	0	0	0	0	0	0	219	851
C17orf75	64149	broad.mit.edu	37	17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	140										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358																																						ENST00000577809.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.993402	0.990000	1.000000																										0				1						c.(418-420)Acg>Gcg		chromosome 17 open reading frame 75							121.0	116.0	117.0					17																	30665300		1839	4100	5939	SO:0001583	missense	64149	0	0					g.chr17:30665300T>C	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.418A>G	chr17.hg19:g.30665300T>C	ENSP00000464275:p.Thr140Ala	0					C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A|RP11-227G15.3_ENST00000581915.1_RNA	p.T140A	NM_022344.3	NP_071739.2	1	2	3	2.015275	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)	4	467	-		Breast(31;0.116)|Ovarian(249;0.182)	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	1	1	hg19	c.418A>G	CCDS58537.1	1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081745	0.07141	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.62	0.773	0.18516	5.62	0.773	0.18516	.	0.406564	0.30003	N	0.010642	T	0.16257	0.0391	N	0.16478	0.41	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	9	0.14252	T	0.57	-13.093	4.9529	0.14023	0.124:0.2811:0.0:0.5949	.	140	Q9HAS0	NJMU_HUMAN	A	140	.	ENSP00000225805:T140A	T	-	1	0	0	C17orf75	27689413	27689413	0.404000	0.25328	0.386000	0.26170	0.003000	0.03518	0.321000	0.19558	0.085000	0.17107	-0.411000	0.06167	ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-16.547560	1	0.170000	NM_022344			51	51		463	453	1		1	1		0	0	124	0		1	9.642687e-01	0	5	0	46	0	51	463
C17orf75	64149	broad.mit.edu	37	17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473																																						ENST00000577809.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(226-228)Tcc>Ccc		chromosome 17 open reading frame 75							73.0	71.0	72.0					17																	30666953		1929	4153	6082	SO:0001583	missense	64149	0	0					g.chr17:30666953A>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.226T>C	chr17.hg19:g.30666953A>G	ENSP00000464275:p.Ser76Pro	0					C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P|RP11-227G15.3_ENST00000581915.1_RNA	p.S76P	NM_022344.3	NP_071739.2	1	2	3	2.015275	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)	3	275	-		Breast(31;0.116)|Ovarian(249;0.182)	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	1	1	hg19	c.226T>C	CCDS58537.1	1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326033	0.41197	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.172475	0.51477	D	0.000084	T	0.77054	0.4074	M	0.61703	1.905	0.43879	D	0.996495	D	0.89917	1.0	D	0.85130	0.997	T	0.79662	-0.1710	9	0.87932	D	0	-4.6812	15.5785	0.76414	1.0:0.0:0.0:0.0	.	76	Q9HAS0	NJMU_HUMAN	P	76	.	ENSP00000225805:S76P	S	-	1	0	0	C17orf75	27691066	27691066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.206000	0.65192	2.080000	0.62538	0.528000	0.53228	TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_022344			57	57		193	191	0		1	1		0	0	52	0		1	9.999965e-01	0	15	0	52	0	57	193
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000321233.6	+	11	1584	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000394670.4_Missense_Mutation_p.R493H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	477					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507																																						ENST00000321233.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999608	0.990000	1.000000																										1	Substitution - Missense(1)	p.R477L(1)	lung(1)	10						c.(1429-1431)cGt>cAt		zinc finger protein 207							82.0	71.0	75.0					17																	30696771		2203	4300	6503	SO:0001583	missense	7756	1	121166	33				g.chr17:30696771G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1430G>A	chr17.hg19:g.30696771G>A	ENSP00000322777:p.Arg477His	0					ZNF207_ENST00000394670.4_Missense_Mutation_p.R493H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000577908.1_Intron	p.R477H	NM_003457.3	NP_003448.1	1	2	3	2.015275	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)	11	1584	+		Breast(31;0.116)|Ovarian(249;0.182)	A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	1	1	hg19	c.1430G>A	CCDS11271.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848845	0.51164	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.53640	0.64;0.73;0.61	5.65	4.69	0.59074	5.65	4.69	0.59074	.	.	.	.	.	T	0.49406	0.1555	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.58075	-0.7700	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	493;446;462;394;477	ENSP00000378165:R493H;ENSP00000322777:R462H;ENSP00000344913:R394H	ENSP00000322777:R462H	R	+	2	0	0	ZNF207	27720884	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				33	31		222	219	1		1	1		0	0	71	0		1	1	0	142	0	439	0	33	222
PSMD11	5717	broad.mit.edu	37	17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(490-492)gCt>gAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							78.0	78.0	78.0					17																	30796059		2203	4300	6503	SO:0001583	missense	5717	0	0					g.chr17:30796059C>A	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.491C>A	chr17.hg19:g.30796059C>A	ENSP00000261712:p.Ala164Asp	0					PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	1	2	3	2.015275	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)	6	754	+		Breast(31;0.159)|Ovarian(249;0.182)	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	1	1	hg19	c.491C>A	CCDS11272.1	1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261777	0.39995	.	.	ENSG00000108671	ENST00000261712	T	0.43294	0.95	5.65	5.65	0.86999	5.65	5.65	0.86999	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.37507	1.11	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17098	0.017;0.003	T	0.10730	-1.0617	10	0.11485	T	0.65	-6.4445	17.2626	0.87075	0.0:1.0:0.0:0.0	.	164;164	B4DTS5;O00231	.;PSD11_HUMAN	D	164	ENSP00000261712:A164D	ENSP00000261712:A164D	A	+	2	0	0	PSMD11	27820172	27820172	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	2.941000	0.99782	0.655000	0.94253	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_002815			65	63		313	306	1		1	1		0	0	77	0		1	1	0	106	0	238	0	65	313
CDK5R1	8851	broad.mit.edu	37	17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677																																						ENST00000313401.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(457-459)cGc>cAc		cyclin-dependent kinase 5, regulatory subunit 1 (p35)							44.0	45.0	45.0					17																	30815096		2203	4300	6503	SO:0001583	missense	8851	0	0					g.chr17:30815096G>A	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.458G>A	chr17.hg19:g.30815096G>A	ENSP00000318486:p.Arg153His	0						p.R153H	NM_003885.2	NP_003876.1	1	2	3	2.015275	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)	2	1147	+		Breast(31;0.159)|Ovarian(249;0.182)	E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	1	1	hg19	c.458G>A	CCDS11273.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817185	0.90790	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	D	0.89174	0.3539	10	0.87932	D	0	-21.4374	16.9953	0.86366	0.0:0.0:1.0:0.0	.	153	Q15078	CD5R1_HUMAN	H	153	ENSP00000318486:R153H	ENSP00000318486:R153H	R	+	2	0	0	CDK5R1	27839209	27839209	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.556000	0.73932	2.609000	0.88269	0.557000	0.71058	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003885			84	84		288	287	1		1	0		0	0	50	0		1	3.195875e-01	0	0	0	5	0	84	288
MYO1D	4642	broad.mit.edu	37	17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000318217.5	-	19	2852	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	850	Myosin tail. {ECO:0000255}.				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)			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)			TTGTCCTTCCGTTTCAATTCA	0.413																																						ENST00000318217.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2548-2550)Cgg>Tgg		myosin ID							131.0	106.0	115.0					17																	30980908		2203	4300	6503	SO:0001583	missense	4642	3	121412	33				g.chr17:30980908G>A	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.2548C>T	chr17.hg19:g.30980908G>A	ENSP00000324527:p.Arg850Trp	0					MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W	p.R850W	NM_015194.1	NP_056009.1	1	2	3	2.015275	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)	19	2852	-			A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	1	1	hg19	c.2548C>T	CCDS32615.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010813	0.75046	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	D	0.87650	-2.28	5.89	4.9	0.64082	5.89	4.9	0.64082	Myosin tail 2 (1);	0.000000	0.36740	U	0.002433	D	0.90089	0.6904	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.932	D	0.90562	0.4516	10	0.72032	D	0.01	.	11.8626	0.52476	0.0:0.0:0.6823:0.3176	.	761;850	Q7Z3N6;O94832	.;MYO1D_HUMAN	W	850;42	ENSP00000324527:R850W	ENSP00000324527:R850W	R	-	1	2	2	MYO1D	28005021	28005021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.298000	0.43602	1.454000	0.47793	0.591000	0.81541	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-19.999840	1	0.170000				35	35		128	125	1		1	1		0	0	29	0		1	1	0	103	0	299	0	35	128
MYO1D	4642	broad.mit.edu	37	17	31082531	31082531	+	Silent	SNP	G	G	A	rs189288278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000318217.5	-	11	1750	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_ENST00000579584.1_Silent_p.H482H|MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	482	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)			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)			AAAAATGGGCGTGTTTGCCCA	0.393													G|||	12	0.00239617	0.0	0.0	5008	,	,		20686	0.0119		0.0	False		,,,				2504	0.0					ENST00000318217.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1444-1446)caC>caT		myosin ID							126.0	113.0	117.0					17																	31082531		2203	4300	6503	SO:0001819	synonymous_variant	4642	55	121408	50				g.chr17:31082531G>A	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.1446C>T	chr17.hg19:g.31082531G>A		0					MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000579584.1_Silent_p.H482H	p.H482H	NM_015194.1	NP_056009.1	1	2	3	2.015275	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)	11	1750	-			A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	1	0	hg19	c.1446C>T	CCDS32615.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.296900	1	0.170000				58	57		298	294	1		1	1		0	0	88	0		1	1	0	87	0	264	0	58	298
TMEM98	26022	broad.mit.edu	37	17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572																																						ENST00000579849.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(367-369)gCc>gTc		transmembrane protein 98							119.0	106.0	110.0					17																	31263420		2203	4300	6503	SO:0001583	missense	26022	0	0					g.chr17:31263420C>T	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.368C>T	chr17.hg19:g.31263420C>T	ENSP00000463245:p.Ala123Val	0					TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	p.A123V	NM_015544.2	NP_056359.2	1	2	3	2.015275	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)	6	799	+		Ovarian(249;0.182)|Breast(31;0.244)	E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	1	1	hg19	c.368C>T	CCDS11274.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364878	0.82463	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.51325	0.71;0.87;0.88;0.71	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.056029	0.64402	D	0.000001	T	0.40595	0.1123	L	0.29908	0.895	0.46167	D	0.998907	B	0.31413	0.322	B	0.31245	0.126	T	0.17258	-1.0375	10	0.54805	T	0.06	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	123	Q9Y2Y6	TMM98_HUMAN	V	123	ENSP00000378138:A123V;ENSP00000261713:A123V;ENSP00000398446:A123V;ENSP00000406394:A123V	ENSP00000261713:A123V	A	+	2	0	0	TMEM98	28287533	28287533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	1.081000	0.41110	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.239716	1	0.170000	NM_015544			57	56		294	287	1		1	1		0	0	77	0		1	1	0	33	0	350	0	57	294
TMEM98	26022	broad.mit.edu	37	17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532																																						ENST00000579849.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(469-471)Gca>Aca		transmembrane protein 98							142.0	114.0	123.0					17																	31266550		2203	4300	6503	SO:0001583	missense	26022	1	121412	23				g.chr17:31266550G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.469G>A	chr17.hg19:g.31266550G>A	ENSP00000463245:p.Ala157Thr	0					TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	p.A157T	NM_015544.2	NP_056359.2	1	2	3	2.015275	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)	7	900	+		Ovarian(249;0.182)|Breast(31;0.244)	E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	1	1	hg19	c.469G>A	CCDS11274.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.301065	0.95601	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55927	-0.8063	10	0.46703	T	0.11	-24.2618	17.7902	0.88550	0.0:0.0:1.0:0.0	.	157	Q9Y2Y6	TMM98_HUMAN	T	157	ENSP00000378138:A157T;ENSP00000406394:A157T	ENSP00000261713:A157T	A	+	1	0	0	TMEM98	28290663	28290663	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.097000	0.94193	2.813000	0.96785	0.655000	0.94253	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.333471	1	0.170000	NM_015544			47	43		214	204	1		1	1		0	0	61	0		1	1	0	37	0	240	0	47	214
SPACA3	124912	broad.mit.edu	37	17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000269053.3	+	2	386	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G37R|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					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)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622																																						ENST00000269053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000																										0				18						c.(316-318)Gga>Aga		sperm acrosome associated 3							92.0	61.0	71.0					17																	31322708		2203	4300	6503	SO:0001583	missense	124912	1	121412	27				g.chr17:31322708G>A	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.316G>A	chr17.hg19:g.31322708G>A	ENSP00000269053:p.Gly106Arg	0					SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G37R	p.G106R	NM_173847.3	NP_776246.1	1	2	3	2.015275	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	2	386	+			Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	1	1	hg19	c.316G>A	CCDS11275.1	1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.266508	0.59540	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71817	-0.6	3.94	3.94	0.45596	3.94	3.94	0.45596	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79240	0.4412	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80752	-0.1242	10	0.87932	D	0	-9.2107	11.7831	0.52026	0.0:0.0:1.0:0.0	.	106	Q8IXA5	SACA3_HUMAN	R	106;107	ENSP00000269053:G106R	ENSP00000269053:G106R	G	+	1	0	0	SPACA3	28346821	28346821	1.000000	0.71417	0.440000	0.26846	0.640000	0.38277	4.350000	0.59392	2.510000	0.84645	0.443000	0.29094	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_173847			28	27		157	152	1		1	0		0	0	40	0		1	6.612252e-02	0	0	0	3	0	28	157
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522																																						ENST00000225842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(220-222)Gcc>Acc		chemokine (C-C motif) ligand 1							115.0	109.0	111.0					17																	32687649		2203	4300	6503	SO:0001583	missense	6346	10	121412	42				g.chr17:32687649C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	chr17.hg19:g.32687649C>T	ENSP00000225842:p.Ala74Thr	0						p.A74T	NM_002981.1	NP_002972.1	1	2	3	2.015275	P22362	CCL1_HUMAN		3	289	-		Ovarian(249;0.0443)|Breast(31;0.133)	B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	1	1	hg19	c.220G>A	CCDS11282.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	0	CCL1	29711762	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_002981			112	108		505	499	1		1			0	0	97	0		1	0	0	0	0	0	0	112	505
CCL1	6346	broad.mit.edu	37	17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	23					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572																																						ENST00000225842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(67-69)aGc>aTc		chemokine (C-C motif) ligand 1							148.0	105.0	120.0					17																	32690113		2203	4300	6503	SO:0001583	missense	6346	0	0					g.chr17:32690113C>A	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.68G>T	chr17.hg19:g.32690113C>A	ENSP00000225842:p.Ser23Ile	0						p.S23I	NM_002981.1	NP_002972.1	1	2	3	2.015275	P22362	CCL1_HUMAN		1	137	-		Ovarian(249;0.0443)|Breast(31;0.133)	B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	1	1	hg19	c.68G>T	CCDS11282.1	1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776681	0.31411	.	.	ENSG00000108702	ENST00000225842	T	0.03413	3.94	4.42	2.41	0.29592	4.42	2.41	0.29592	Chemokine interleukin-8-like domain (1);	0.529029	0.20041	N	0.100511	T	0.05640	0.0148	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.49226	0.603	T	0.29336	-1.0015	9	0.48119	T	0.1	-6.2234	6.3335	0.21282	0.0:0.6976:0.202:0.1004	.	23	P22362	CCL1_HUMAN	I	23	ENSP00000225842:S23I	ENSP00000225842:S23I	S	-	2	0	0	CCL1	29714226	29714226	0.008000	0.16893	0.000000	0.03702	0.022000	0.10575	0.558000	0.23469	0.802000	0.34089	0.644000	0.83932	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-20.000000	1	0.170000	NM_002981			48	48		195	189	1		1			0	0	57	0		1	0	0	0	0	0	0	48	195
C17orf102	400591	broad.mit.edu	37	17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	98			G -> R (in dbSNP:rs58529418). {ECO:0000269|PubMed:14702039}.							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672																																						ENST00000357754.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(292-294)gGg>gAg		chromosome 17 open reading frame 102							45.0	52.0	50.0					17																	32906007		1864	4091	5955	SO:0001583	missense	400591	0	0					g.chr17:32906007C>T		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.293G>A	chr17.hg19:g.32906007C>T	ENSP00000350392:p.Gly98Glu	0					TMEM132E_ENST00000321639.5_5'Flank	p.G98E	NM_207454.2	NP_997337.2	1	2	3	2.015275	A2RUQ5	CQ102_HUMAN		1	381	-			A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	1	1	hg19	c.293G>A	CCDS42297.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744526	0.30865	.	.	ENSG00000197322	ENST00000357754	T	0.46063	0.88	3.33	2.3	0.28687	3.33	2.3	0.28687	.	1.147840	0.06879	U	0.802091	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.40572	-0.9556	10	0.87932	D	0	.	8.3172	0.32108	0.0:0.755:0.2449:0.0	.	98	A2RUQ5	CQ102_HUMAN	E	98	ENSP00000350392:G98E	ENSP00000350392:G98E	G	-	2	0	0	C17orf102	29930120	29930120	0.020000	0.18652	0.000000	0.03702	0.019000	0.09904	0.831000	0.27476	0.663000	0.31027	0.655000	0.94253	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	0	0	1		2	2	2	1		1	0	122		122	117	1	2.060000	-20.000000	1	0.170000	NM_207454			162	162		596	586	1		1			1	0	122	0		1	0	0	0	0	0	0	162	596
TMEM132E	124842	broad.mit.edu	37	17	32956037	32956037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	294						integral component of membrane (GO:0016021)				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)		GCAGGGAGGGCCAGGGCCCCT	0.612																																						ENST00000321639.5	1.000000	0.530000	9.200000e-01	6.300000e-01	0.740000	0.766187	0.740000	0.720000																										0				57						c.(880-882)ggC>ggT		transmembrane protein 132E							69.0	73.0	72.0					17																	32956037		2203	4300	6503	SO:0001819	synonymous_variant	124842	0	0					g.chr17:32956037C>T	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.882C>T	chr17.hg19:g.32956037C>T		0						p.G294G	NM_207313.1	NP_997196.1	1	2	3	2.015275	Q6IEE7	T132E_HUMAN		5	1210	+			Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	1	1	hg19	c.882C>T	CCDS11283.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-8.022131	1	0.170000	NM_207313			39	39		595	587	0		1	0	0	0	0	137	0		1	1.283474e-01	0	0	0	10	1	39	595
OR1E1	8387	broad.mit.edu	37	17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	291					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)			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443																																						ENST00000322608.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(871-873)aGc>aTc		olfactory receptor, family 1, subfamily E, member 1							89.0	84.0	86.0					17																	3300833		2203	4300	6503	SO:0001583	missense	8387	0	0					g.chr17:3300833C>A	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.872G>T	chr17.hg19:g.3300833C>A	ENSP00000313384:p.Ser291Ile	0						p.S291I	NM_003553.2	NP_003544.2	1	2	3	2.017774	P30953	OR1E1_HUMAN		1	871	-			O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	1	1	hg19	c.872G>T	CCDS11024.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000180016	ENST00000322608	T	0.36878	1.23	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.80183	2.485	0.48696	D	0.999691	D	0.62365	0.991	P	0.60682	0.878	T	0.66559	-0.5893	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	291	P30953	OR1E1_HUMAN	I	291	ENSP00000313384:S291I	ENSP00000313384:S291I	S	-	2	0	0	OR1E1	3247583	3247583	0.930000	0.31532	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.449000	0.82847	0.591000	0.81541	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	1	0	1		2	2	2	0		0	0	99		99	100	1	2.060000	-3.398322	1	0.170000	NM_003553			60	59		277	275	1		1			0	0	99	0		1	0	0	0	0	0	0	60	277
OR1E1	8387	broad.mit.edu	37	17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	149					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)			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547																																						ENST00000322608.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999948	0.990000	1.000000																										0				10						c.(445-447)tgG>tgT		olfactory receptor, family 1, subfamily E, member 1							84.0	66.0	72.0					17																	3301258		2203	4300	6503	SO:0001583	missense	8387	0	0					g.chr17:3301258C>A	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.447G>T	chr17.hg19:g.3301258C>A	ENSP00000313384:p.Trp149Cys	0						p.W149C	NM_003553.2	NP_003544.2	1	2	3	2.017774	P30953	OR1E1_HUMAN		1	446	-			O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	1	1	hg19	c.447G>T	CCDS11024.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945301	0.53079	.	.	ENSG00000180016	ENST00000322608	T	0.59638	0.25	4.69	4.69	0.59074	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.80065	0.4555	M	0.91510	3.215	0.58432	D	0.999996	D	0.57257	0.979	D	0.65987	0.94	D	0.85183	0.1005	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	149	P30953	OR1E1_HUMAN	C	149	ENSP00000313384:W149C	ENSP00000313384:W149C	W	-	3	0	0	OR1E1	3248008	3248008	0.035000	0.19736	1.000000	0.80357	0.776000	0.43924	0.570000	0.23653	2.449000	0.82847	0.591000	0.81541	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	0	0	1		2	2	2	0		0	0	51		51	52	1	2.060000	-3.225115	1	0.170000	NM_003553			37	36		226	218	1		1			0	0	51	0		1	0	0	0	0	0	0	37	226
TMEM132E	124842	broad.mit.edu	37	17	32965106	32965106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	ENST00000321639.5	+	10	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	937						integral component of membrane (GO:0016021)				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)		GAGGAGCTGGCCTATGACTCG	0.697																																						ENST00000321639.5	1.000000	0.880000	1	9.900000e-01	0.990000	0.993008	0.990000	1.000000																										0				57						c.(2809-2811)gCc>gTc		transmembrane protein 132E							10.0	12.0	12.0					17																	32965106		2195	4277	6472	SO:0001583	missense	124842	0	0					g.chr17:32965106C>T	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.2810C>T	chr17.hg19:g.32965106C>T	ENSP00000316532:p.Ala937Val	0						p.A937V	NM_207313.1	NP_997196.1	1	2	3	2.015275	Q6IEE7	T132E_HUMAN		10	3138	+			Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	0	1	hg19	c.2810C>T	CCDS11283.1	1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558345	0.45590	.	.	ENSG00000181291	ENST00000321639	T	0.06142	3.34	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.117206	0.64402	D	0.000020	T	0.05502	0.0145	L	0.27053	0.805	0.40800	D	0.983337	B	0.23891	0.093	B	0.19666	0.026	T	0.32745	-0.9895	10	0.48119	T	0.1	-33.8477	10.7548	0.46230	0.0:0.9136:0.0:0.0864	.	937	Q6IEE7	T132E_HUMAN	V	937	ENSP00000316532:A937V	ENSP00000316532:A937V	A	+	2	0	0	TMEM132E	29989219	29989219	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.877000	0.48506	2.552000	0.86080	0.643000	0.83706	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-19.998980	1	0.170000	NM_207313			10	10		60	58	1		1	0		0	0	10	0		9.971948e-01	0	0	0	0	1	0	10	60
RFFL	117584	broad.mit.edu	37	17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACAGAGGTGGCTTGTGCAGA	0.552																																						ENST00000315249.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(550-552)gCc>gTc		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							70.0	63.0	65.0					17																	33348430		2203	4300	6503	SO:0001583	missense	117584	0	0					g.chr17:33348430G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.551C>T	chr17.hg19:g.33348430G>A	ENSP00000326170:p.Ala184Val	0					RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V	p.A184V			1	2	3	2.015275				3	773	-		Ovarian(249;0.17)		Missense_Mutation	SNP	ENST00000315249.7	1	1	hg19	c.551C>T	CCDS11286.1	1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033387	0.19590	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46063	0.88;0.88;0.89;0.94;0.89;0.88	5.29	4.32	0.51571	5.29	4.32	0.51571	.	0.493756	0.19078	N	0.123321	T	0.22322	0.0538	N	0.05230	-0.09	0.24595	N	0.993809	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.002;0.004	T	0.13255	-1.0516	10	0.23302	T	0.38	-7.8595	12.2476	0.54578	0.0825:0.0:0.9175:0.0	.	184;184;184;184	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	V	184	ENSP00000326170:A184V;ENSP00000378096:A184V;ENSP00000367777:A184V;ENSP00000268850:A184V;ENSP00000408513:A184V;ENSP00000412322:A184V	ENSP00000268850:A184V	A	-	2	0	0	RFFL	30372543	30372543	0.986000	0.35501	0.726000	0.30738	0.232000	0.25224	3.985000	0.56930	1.440000	0.47531	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_057178			38	35		164	158	1		1	1		0	0	51	0		1	9.999725e-01	0	15	0	58	0	38	164
SPATA22	84690	broad.mit.edu	37	17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A	rs377104896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15473	0.0		0.0	False		,,,				2504	0.0					ENST00000573128.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994680	0.990000	1.000000																										0				19						c.(1000-1002)gCg>gTg		spermatogenesis associated 22		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66.0	72.0	70.0		1001,872,1001,1001,,1001	5.7	1.0	17		70	0,8600		0,0,4300	no	missense,missense,missense,missense,utr-3,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	64,64,64,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	334/364,291/321,334/364,334/364,,334/364	3343532	2,13004	2203	4300	6503	SO:0001583	missense	84690	7	121410	41				g.chr17:3343532G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1001C>T	chr17.hg19:g.3343532G>A	ENSP00000459580:p.Ala334Val	0					SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V	p.A334V			1	2	3	2.017774	Q8NHS9	SPT22_HUMAN		9	1484	-			B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	1	1	hg19	c.1001C>T	CCDS11027.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886862	0.91814	4.54E-4	0.0	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.256413	0.31542	N	0.007477	T	0.43122	0.1233	N	0.19112	0.55	0.39359	D	0.965891	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.57324	0.818;0.818;0.818	T	0.44205	-0.9343	10	0.87932	D	0	-19.6519	19.2308	0.93839	0.0:0.0:1.0:0.0	.	318;291;334	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	291;334;318	ENSP00000347541:A291V;ENSP00000380354:A334V;ENSP00000441920:A318V	ENSP00000347541:A291V	A	-	2	0	0	SPATA22	3290282	3290282	1.000000	0.71417	0.992000	0.48379	0.875000	0.50365	5.895000	0.69814	2.868000	0.98415	0.557000	0.71058	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-14.426020	1	0.170000	NM_032598			41	41		355	353	1		1			0	0	54	0		1	0	0	0	0	0	0	41	355
RFFL	117584	broad.mit.edu	37	17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGCACGAGTCCTGTCCTCCTG	0.582																																						ENST00000315249.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(433-435)aGg>aAg		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							81.0	66.0	71.0					17																	33348547		2203	4300	6503	SO:0001583	missense	117584	0	0					g.chr17:33348547C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.434G>A	chr17.hg19:g.33348547C>T	ENSP00000326170:p.Arg145Lys	0					RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K	p.R145K			1	2	3	2.015275				3	656	-		Ovarian(249;0.17)		Missense_Mutation	SNP	ENST00000315249.7	1	1	hg19	c.434G>A	CCDS11286.1	1	.	.	.	.	.	.	.	.	.	.	C	9.551	1.115960	0.20795	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.98;0.97;0.97	5.65	4.68	0.58851	5.65	4.68	0.58851	.	0.406087	0.30201	N	0.010166	T	0.30634	0.0771	L	0.42245	1.32	0.30764	N	0.743764	P;P;B;B	0.43287	0.802;0.627;0.323;0.225	B;B;B;B	0.40677	0.337;0.295;0.079;0.114	T	0.18871	-1.0323	10	0.06099	T	0.92	-22.2961	10.0295	0.42092	0.0:0.8343:0.0:0.1657	.	145;145;145;145	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	K	145	ENSP00000326170:R145K;ENSP00000378096:R145K;ENSP00000367777:R145K;ENSP00000268850:R145K;ENSP00000408513:R145K;ENSP00000412322:R145K	ENSP00000268850:R145K	R	-	2	0	0	RFFL	30372660	30372660	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.146000	0.50631	1.630000	0.50440	0.655000	0.94253	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	1	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-20.000000	1	0.170000	NM_057178			44	42		149	144	1		1	1		0	0	41	0		1	9.999910e-01	0	19	0	45	0	44	149
FNDC8	54752	broad.mit.edu	37	17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	150						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582																																						ENST00000158009.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(448-450)Aca>Gca		fibronectin type III domain containing 8							107.0	113.0	111.0					17																	33454299		2203	4300	6503	SO:0001583	missense	54752	0	0					g.chr17:33454299A>G	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.448A>G	chr17.hg19:g.33454299A>G	ENSP00000158009:p.Thr150Ala	0						p.T150A	NM_017559.2	NP_060029.1	1	2	3	2.015275	Q8TC99	FNDC8_HUMAN		2	563	+		Ovarian(249;0.17)	B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	1	1	hg19	c.448A>G	CCDS11290.1	1	.	.	.	.	.	.	.	.	.	.	A	1.870	-0.460518	0.04508	.	.	ENSG00000073598	ENST00000158009	T	0.30448	1.53	4.52	1.11	0.20524	4.52	1.11	0.20524	.	0.409067	0.21308	N	0.076696	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.16364	-1.0405	10	0.30078	T	0.28	-2.735	5.5119	0.16886	0.4787:0.4225:0.0:0.0988	.	150	Q8TC99	FNDC8_HUMAN	A	150	ENSP00000158009:T150A	ENSP00000158009:T150A	T	+	1	0	0	FNDC8	30478412	30478412	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.113000	0.15499	0.256000	0.21614	-0.213000	0.12676	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	0	0	1		18	2	2	1		1	1	190		190	189	1	2.060000	-20.000000	1	0.170000	NM_017559			163	162		853	843	1		1	0		1	0	190	0		1	2.603475e-02	0	0	0	2	0	163	853
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T	rs187705654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000442241.4	-	9	1045	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Missense_Mutation_p.V294M|NLE1_ENST00000586869.1_Missense_Mutation_p.V44M	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17561	0.001		0.0	False		,,,				2504	0.0					ENST00000442241.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1006-1008)Gtg>Atg		notchless homolog 1 (Drosophila)							168.0	171.0	170.0					17																	33463193		2203	4300	6503	SO:0001583	missense	54475	10	121412	47				g.chr17:33463193C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1006G>A	chr17.hg19:g.33463193C>T	ENSP00000413572:p.Val336Met	0					NLE1_ENST00000360831.5_Missense_Mutation_p.V294M|NLE1_ENST00000586869.1_Missense_Mutation_p.V44M|NLE1_ENST00000593176.1_5'Flank	p.V336M	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	1	2	3	2.015275	Q9NVX2	NLE1_HUMAN		9	1045	-		Ovarian(249;0.17)	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	1	1	hg19	c.1006G>A	CCDS11291.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.63	2.293743	0.40594	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.60171	0.21	5.1	3.0	0.34707	5.1	3.0	0.34707	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114208	0.64402	N	0.000016	T	0.58623	0.2135	L	0.43152	1.355	0.40738	D	0.982804	D;P	0.60575	0.988;0.904	P;P	0.59357	0.856;0.543	T	0.57277	-0.7839	10	0.37606	T	0.19	-17.8702	6.5262	0.22303	0.0:0.7806:0.0:0.2194	.	312;336	B4E074;Q9NVX2	.;NLE1_HUMAN	M	336;44;312	ENSP00000413572:V336M	ENSP00000354075:V44M	V	-	1	0	0	NLE1	30487306	30487306	0.996000	0.38824	0.182000	0.23118	0.185000	0.23345	3.248000	0.51430	1.396000	0.46663	-0.222000	0.12452	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	1	0	1		2	2	2	0		0	0	252		252	251	1	2.060000	-20.000000	1	0.170000	NM_018096			232	228		1172	1141	1		1	1		0	0	252	0		1	9.827221e-01	0	10	0	24	0	232	1172
SPATA22	84690	broad.mit.edu	37	17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348																																						ENST00000573128.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999832	0.990000	1.000000																										0				19						c.(829-831)gGc>gAc		spermatogenesis associated 22		C	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,,ASP/GLY	0,4404		0,0,2202	66.0	59.0	62.0		830,701,830,830,,830	5.3	0.7	17	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,intron,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	94,94,94,94,,94	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	277/364,234/321,277/364,277/364,,277/364	3346538	1,13001	2202	4299	6501	SO:0001583	missense	84690	1	121382	23				g.chr17:3346538C>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.830G>A	chr17.hg19:g.3346538C>T	ENSP00000459580:p.Gly277Asp	0					SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D	p.G277D			1	2	3	2.017774	Q8NHS9	SPT22_HUMAN		8	1313	-			B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	1	1	hg19	c.830G>A	CCDS11027.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268539	0.80469	0.0	1.16E-4	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.80033	-1.33;-1.33;-1.33	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.074384	0.49916	D	0.000135	D	0.84524	0.5491	L	0.27053	0.805	0.41576	D	0.988713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.86378	0.1727	10	0.66056	D	0.02	-10.3436	18.3541	0.90351	0.0:1.0:0.0:0.0	.	261;234;277	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	234;277;261	ENSP00000347541:G234D;ENSP00000380354:G277D;ENSP00000441920:G261D	ENSP00000347541:G234D	G	-	2	0	0	SPATA22	3293288	3293288	0.999000	0.42202	0.684000	0.30055	0.882000	0.50991	4.425000	0.59875	2.660000	0.90430	0.557000	0.71058	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-13.528450	1	0.170000	NM_032598			22	22		117	117	1		1			0	0	28	0		9.999993e-01	0	0	0	0	0	0	22	117
NLE1	54475	broad.mit.edu	37	17	33464116	33464116	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33464116C>A	ENST00000442241.4	-	7	771	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	244					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTGGGTGTGCCCGGTGAGGA	0.627																																						ENST00000442241.4	1.000000	0.150000	4.500000e-01	2.100000e-01	0.300000	0.372795	0.300000	0.280000																										0				22						c.(730-732)ggG>ggT		notchless homolog 1 (Drosophila)							77.0	72.0	74.0					17																	33464116		2203	4300	6503	SO:0001819	synonymous_variant	54475	0	0					g.chr17:33464116C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.732G>T	chr17.hg19:g.33464116C>A		0					NLE1_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	p.G244G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	1	2	3	2.015275	Q9NVX2	NLE1_HUMAN		7	771	-		Ovarian(249;0.17)	O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	0	1	hg19	c.732G>T	CCDS11291.1	0	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235133	0.22626	.	.	ENSG00000073536	ENST00000436188	.	.	.	4.6	-1.56	0.08532	4.6	-1.56	0.08532	.	0.051829	0.85682	D	0.000000	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55798	-0.8084	6	0.87932	D	0	-24.1017	5.3062	0.15805	0.0:0.3098:0.1577:0.5325	.	.	.	.	V	24	.	ENSP00000416023:G24V	G	-	2	0	0	NLE1	30488229	30488229	0.059000	0.20769	0.992000	0.48379	0.991000	0.79684	-0.790000	0.04604	-0.084000	0.12595	-0.345000	0.07892	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-2.985916	1	0.170000	NM_018096			10	10		411	409	0		1	1		0	0	67	0		9.968842e-01	4.762768e-01	0	2	0	61	0	10	411
NLE1	54475	broad.mit.edu	37	17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	74					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547																																						ENST00000442241.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				22						c.(220-222)gGg>gTg		notchless homolog 1 (Drosophila)							98.0	80.0	86.0					17																	33467027		2203	4300	6503	SO:0001583	missense	54475	0	0					g.chr17:33467027C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.221G>T	chr17.hg19:g.33467027C>A	ENSP00000413572:p.Gly74Val	0					NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	p.G74V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	1	2	3	2.015275	Q9NVX2	NLE1_HUMAN		3	260	-		Ovarian(249;0.17)	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	1	1	hg19	c.221G>T	CCDS11291.1	1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010051	0.19277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	5.22	-0.569	0.11756	5.22	-0.569	0.11756	NLE (1);	0.558737	0.20980	N	0.082221	T	0.35970	0.0950	L	0.41492	1.28	0.58432	D	0.999992	B	0.24043	0.096	B	0.31390	0.129	T	0.04565	-1.0942	10	0.17369	T	0.5	-12.3469	4.3035	0.10935	0.0:0.3614:0.1731:0.4654	.	74	Q9NVX2	NLE1_HUMAN	V	74	ENSP00000413572:G74V	ENSP00000413572:G74V	G	-	2	0	0	NLE1	30491140	30491140	0.976000	0.34144	0.995000	0.50966	0.700000	0.40528	0.986000	0.29590	0.075000	0.16796	-0.145000	0.13849	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_018096			33	33		175	173	1		1	1		0	0	48	0		1	9.938043e-01	0	14	0	31	0	33	175
UNC45B	146862	broad.mit.edu	37	17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	415					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGCAACCAGCTGCTGGGAC	0.582																																						ENST00000268876.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				59						c.(1243-1245)caG>caT		unc-45 homolog B (C. elegans)							110.0	86.0	94.0					17																	33495173		2203	4300	6503	SO:0001583	missense	146862	0	0					g.chr17:33495173G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1245G>T	chr17.hg19:g.33495173G>T	ENSP00000268876:p.Gln415His	0					RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H	p.Q415H	NM_173167.2	NP_775259.1	1	2	3	2.015275	Q8IWX7	UN45B_HUMAN		10	1342	+		Ovarian(249;0.17)	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	1	1	hg19	c.1245G>T	CCDS11292.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996034	0.54147	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	1.5;3.48;1.5;0.83	5.02	2.0	0.26442	5.02	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.241992	0.43260	D	0.000585	T	0.41604	0.1166	N	0.14661	0.345	0.37898	D	0.930937	D;P;B	0.61080	0.989;0.701;0.314	P;B;P	0.58820	0.846;0.435;0.447	T	0.40534	-0.9558	10	0.42905	T	0.14	-31.7403	8.7666	0.34706	0.2965:0.0:0.7035:0.0	.	415;415;415	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	415	ENSP00000378071:Q415H;ENSP00000268876:Q415H;ENSP00000412840:Q415H;ENSP00000367710:Q415H	ENSP00000268876:Q415H	Q	+	3	2	2	UNC45B	30519286	30519286	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	1.293000	0.33353	0.834000	0.34852	-0.766000	0.03442	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	0	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_173167			39	39		205	200	1		1			0	0	58	0		1	0	0	0	0	0	0	39	205
SLFN5	162394	broad.mit.edu	37	17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000299977.4	+	4	1488	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	447					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448																																						ENST00000299977.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1339-1341)aAc>aCc		schlafen family member 5							122.0	118.0	119.0					17																	33591403		2203	4300	6503	SO:0001583	missense	162394	0	0					g.chr17:33591403A>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1340A>C	chr17.hg19:g.33591403A>C	ENSP00000299977:p.Asn447Thr	0					SLFN5_ENST00000542451.1_Intron	p.N447T	NM_144975.3	NP_659412.3	1	2	3	2.015275	Q08AF3	SLFN5_HUMAN		4	1488	+		Ovarian(249;0.17)	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	1	1	hg19	c.1340A>C	CCDS32619.1	1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.926981	0.34002	.	.	ENSG00000166750	ENST00000299977	T	0.02369	4.32	3.46	3.46	0.39613	3.46	3.46	0.39613	.	0.332867	0.21783	N	0.069164	T	0.05318	0.0141	M	0.78049	2.395	0.25796	N	0.984569	P	0.37781	0.608	B	0.36534	0.227	T	0.15578	-1.0432	10	0.87932	D	0	.	8.5002	0.33152	1.0:0.0:0.0:0.0	.	447	Q08AF3	SLFN5_HUMAN	T	447	ENSP00000299977:N447T	ENSP00000299977:N447T	N	+	2	0	0	SLFN5	30615516	30615516	0.000000	0.05858	0.049000	0.19019	0.978000	0.69477	0.471000	0.22100	1.579000	0.49836	0.533000	0.62120	AAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.840168	1	0.170000	NM_144975			80	80		351	346	1		1	0		0	0	80	0		1	9.888253e-01	0	0	0	33	0	80	351
SLFN5	162394	broad.mit.edu	37	17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T	rs370593067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000299977.4	+	5	2583	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	812					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433																																						ENST00000299977.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(2434-2436)aGg>aTg		schlafen family member 5							97.0	88.0	91.0					17																	33592666		2203	4300	6503	SO:0001583	missense	162394	0	0					g.chr17:33592666G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2435G>T	chr17.hg19:g.33592666G>T	ENSP00000299977:p.Arg812Met	0					SLFN5_ENST00000542451.1_3'UTR	p.R812M	NM_144975.3	NP_659412.3	1	2	3	2.015275	Q08AF3	SLFN5_HUMAN		5	2583	+		Ovarian(249;0.17)	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	1	1	hg19	c.2435G>T	CCDS32619.1	1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.635308	0.47049	.	.	ENSG00000166750	ENST00000299977	D	0.82893	-1.66	3.14	1.11	0.20524	3.14	1.11	0.20524	.	0.367861	0.19839	N	0.104889	D	0.86447	0.5935	M	0.71206	2.165	0.54753	D	0.999986	D	0.89917	1.0	D	0.65987	0.94	D	0.84056	0.0372	10	0.87932	D	0	.	4.8998	0.13769	0.2928:0.0:0.7072:0.0	.	812	Q08AF3	SLFN5_HUMAN	M	812	ENSP00000299977:R812M	ENSP00000299977:R812M	R	+	2	0	0	SLFN5	30616779	30616779	0.283000	0.24277	0.835000	0.33067	0.094000	0.18550	0.297000	0.19101	0.651000	0.30788	-0.126000	0.14955	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-2.643617	1	0.170000	NM_144975			56	56		328	322	1		1	1		0	0	85	0		1	9.945695e-01	0	2	0	47	0	56	328
PEX12	5193	broad.mit.edu	37	17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	116					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)			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)		AACATAATAGATTTCCAAAGC	0.433																																						ENST00000225873.4	1.000000	0.380000	6.400000e-01	4.400000e-01	0.520000	0.569593	0.520000	0.510000																										0				18						c.(346-348)Tct>Cct		peroxisomal biogenesis factor 12							116.0	131.0	126.0					17																	33904391		2203	4300	6503	SO:0001583	missense	5193	1	121412	35				g.chr17:33904391A>G	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.346T>C	chr17.hg19:g.33904391A>G	ENSP00000225873:p.Ser116Pro	0					RP11-1094M14.11_ENST00000592381.1_lincRNA	p.S116P	NM_000286.2	NP_000277.1	1	2	3	2.015275	O00623	PEX12_HUMAN		2	953	-			B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	1	1	hg19	c.346T>C	CCDS11296.1	0	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629455	0.87660	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.46	5.46	0.80206	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93810	0.7109	10	0.59425	D	0.04	-11.9731	14.7232	0.69323	1.0:0.0:0.0:0.0	.	116	O00623	PEX12_HUMAN	P	116	ENSP00000225873:S116P	ENSP00000225873:S116P	S	-	1	0	0	PEX12	30928504	30928504	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.504000	0.90512	2.077000	0.62373	0.528000	0.53228	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	0	0	1		2	2	2	0		0	0	202		202	200	1	2.060000	-20.000000	1	0.170000	NM_000286			47	47		1036	1019	0		1	0		0	0	202	0		1	4.740480e-01	0	1	0	35	0	47	1036
AP2B1	163	broad.mit.edu	37	17	34001297	34001297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34001297C>T	ENST00000262325.7	+	16	2792	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	747					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATAAAGCTCTGCAGCACAT	0.433																																						ENST00000262325.7	1.000000	0.080000	2.700000e-01	1.200000e-01	0.170000	0.261407	0.170000	0.170000																										0				28						c.(2239-2241)Ctg>Ttg		adaptor-related protein complex 2, beta 1 subunit							125.0	119.0	121.0					17																	34001297		2203	4300	6503	SO:0001819	synonymous_variant	163	0	0					g.chr17:34001297C>T	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.2239C>T	chr17.hg19:g.34001297C>T		0					AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.L761L	p.L747L	NM_001282.2	NP_001273.1	1	2	3	2.015275	P63010	AP2B1_HUMAN		16	2792	+		Ovarian(249;0.17)	A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	0	1	hg19	c.2239C>T	CCDS32622.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1	0	0	0		2	2	2	0		0	0	116		116	115	1	2.060000	-2.807948	1	0.170000				9	9		636	623	0		1	1		0	0	116	0		9.937056e-01	9.532140e-01	0	7	0	368	0	9	636
AP2B1	163	broad.mit.edu	37	17	34044364	34044364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34044364A>G	ENST00000262325.7	+	20	3288	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	912	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCCCAATTACACGGTAAGG	0.498																																						ENST00000262325.7	1.000000	0.080000	3.300000e-01	1.300000e-01	0.200000	0.287659	0.200000	0.190000																										0				28						c.(2734-2736)tAc>tGc		adaptor-related protein complex 2, beta 1 subunit							97.0	87.0	91.0					17																	34044364		2203	4300	6503	SO:0001583	missense	163	0	0					g.chr17:34044364A>G	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.2735A>G	chr17.hg19:g.34044364A>G	ENSP00000262325:p.Tyr912Cys	0					AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C	p.Y912C	NM_001282.2	NP_001273.1	1	2	3	2.015275	P63010	AP2B1_HUMAN		20	3288	+		Ovarian(249;0.17)	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	0	1	hg19	c.2735A>G	CCDS32622.1	0	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742860	0.49151	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.36157	1.53;1.54;1.27;1.54	5.72	5.72	0.89469	5.72	5.72	0.89469	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.12182	0.205	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.005;0.009	P;B;B;B	0.56042	0.79;0.01;0.01;0.006	T	0.14172	-1.0482	10	0.25751	T	0.34	-13.2416	15.4767	0.75485	1.0:0.0:0.0:0.0	.	663;888;912;926	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	C	912;926;855;926;663	ENSP00000262325:Y912C;ENSP00000314414:Y926C;ENSP00000440563:Y855C;ENSP00000437413:Y926C	ENSP00000262325:Y912C	Y	+	2	0	0	AP2B1	31068477	31068477	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	6.181000	0.71988	2.304000	0.77564	0.528000	0.53228	TAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1	0	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-6.803926	1	0.170000				7	7		436	430	0		1	1		0	0	87	0		9.798199e-01	9.757851e-01	0	5	0	410	0	7	436
GAS2L2	246176	broad.mit.edu	37	17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	425					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)			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)		CAGCTGTCTGTTTCTTCATGA	0.582																																						ENST00000254466.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999737	0.990000	1.000000																										0				35						c.(1273-1275)Aca>Tca		growth arrest-specific 2 like 2							127.0	138.0	134.0					17																	34073243		2203	4300	6503	SO:0001583	missense	246176	0	0					g.chr17:34073243T>A	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.1273A>T	chr17.hg19:g.34073243T>A	ENSP00000254466:p.Thr425Ser	0					GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	p.T425S	NM_139285.3	NP_644814.1	1	2	3	2.015275	Q8NHY3	GA2L2_HUMAN		6	1300	-		Ovarian(249;0.17)	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	1	1	hg19	c.1273A>T	CCDS11298.1	1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285394	0.10513	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.97	2.76	0.32466	4.97	2.76	0.32466	.	0.820742	0.10977	N	0.613112	T	0.11836	0.0288	L	0.51422	1.61	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.27938	-1.0059	10	0.10377	T	0.69	-0.3814	3.8482	0.08943	0.0:0.1962:0.1864:0.6173	.	425	Q8NHY3	GA2L2_HUMAN	S	425	ENSP00000254466:T425S	ENSP00000254466:T425S	T	-	1	0	0	GAS2L2	31097356	31097356	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.053000	0.11846	0.496000	0.27904	0.533000	0.62120	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	1	0	1		2	2	2	0		0	0	176		176	172	1	2.060000	-20.000000	1	0.170000	NM_139285			101	100		849	824	1		1	0		0	0	176	0		1	3.221515e-02	0	0	0	3	0	101	849
TAF15	8148	broad.mit.edu	37	17	34147406	34147406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CATATAATAACCAGGGACAGC	0.358			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q11.1-q11.2	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""				"""L, M"""	L, M	TEC, CHN1, ZNF384		extraskeletal myxoid chondrosarcomas, ALL	TAF15/NR4A3(33)	0				5						c.(253-255)aaC>aaT		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							93.0	93.0	93.0					17																	34147406		2203	4300	6503	SO:0001819	synonymous_variant	8148	0	0					g.chr17:34147406C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.255C>T	chr17.hg19:g.34147406C>T		0					AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|TAF15_ENST00000592237.1_5'UTR	p.N85N	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	1	2	3	2.015275	Q16514	TAF12_HUMAN		5	370	+		Ovarian(249;0.17)	D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	1	0	hg19	c.255C>T	CCDS32623.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_139215			68	66		310	306	1		1	1		0	0	79	0		1	1	0	183	0	446	0	68	310
TAF15	8148	broad.mit.edu	37	17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000592237.1_Missense_Mutation_p.R304W|TAF15_ENST00000311979.3_Missense_Mutation_p.R392W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	33					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q11.1-q11.2	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""				"""L, M"""	L, M	TEC, CHN1, ZNF384		extraskeletal myxoid chondrosarcomas, ALL	TAF15/NR4A3(33)	0				5						c.(1183-1185)Cgg>Tgg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							110.0	122.0	118.0					17																	34171486		2202	4299	6501	SO:0001583	missense	8148	2	121404	36				g.chr17:34171486C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1183C>T	chr17.hg19:g.34171486C>T	ENSP00000466950:p.Arg395Trp	0					TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	p.R395W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	1	2	3	2.015275	Q16514	TAF12_HUMAN		15	1298	+		Ovarian(249;0.17)	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	1	1	hg19	c.1183C>T	CCDS32623.1	1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915436	0.33815	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.0	4.01	0.46588	5.0	4.01	0.46588	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.38188	D	0.939823	B;B	0.24618	0.065;0.107	B;B	0.13407	0.004;0.009	T	0.19063	-1.0317	8	0.66056	D	0.02	-5.036	8.4932	0.33112	0.1747:0.6565:0.1688:0.0	.	395;392	Q92804;Q92804-2	RBP56_HUMAN;.	W	395;198	.	ENSP00000309558:R395W	R	+	1	2	2	TAF15	31195599	31195599	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.587000	0.60991	1.090000	0.41315	0.591000	0.81541	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	1	0	1		2	2	2	0		0	0	169		169	166	1	2.060000	-2.957799	1	0.170000	NM_139215			184	181		720	696	1		1	1		0	0	169	0		1	1	0	88	0	274	0	184	720
TAF15	8148	broad.mit.edu	37	17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000592237.1_Missense_Mutation_p.T346A|TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q11.1-q11.2	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""				"""L, M"""	L, M	TEC, CHN1, ZNF384		extraskeletal myxoid chondrosarcomas, ALL	TAF15/NR4A3(33)	0				5						c.(1621-1623)tAc>tGc		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							72.0	84.0	80.0					17																	34171925		2203	4300	6503	SO:0001583	missense	8148	0	0					g.chr17:34171925A>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1622A>G	chr17.hg19:g.34171925A>G	ENSP00000466950:p.Tyr541Cys	0					TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	p.Y541C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	1	2	3	2.015275	Q16514	TAF12_HUMAN		15	1737	+		Ovarian(249;0.17)	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	1	1	hg19	c.1622A>G	CCDS32623.1	1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466511	0.26335	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.84	-0.218	0.13142	4.84	-0.218	0.13142	.	.	.	.	.	T	0.28532	0.0706	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.44816	0.758;0.844	B;P	0.46479	0.319;0.518	T	0.17198	-1.0377	8	0.87932	D	0	0.1347	4.7692	0.13148	0.2856:0.0:0.526:0.1884	.	541;538	Q92804;Q92804-2	RBP56_HUMAN;.	C	541;344	.	ENSP00000309558:Y541C	Y	+	2	0	0	TAF15	31196038	31196038	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	0.653000	0.24902	0.048000	0.15891	0.482000	0.46254	TAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	0	0	1		19	28	2	1		1	1	90		90	85	1	2.060000	-20.000000	1	0.170000	NM_139215			105	94		438	406	1		1	1		1	0	90	0		1	1	0	247	0	593	0	105	438
TRPV3	162514	broad.mit.edu	37	17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000576742.1	-	12	1876	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N|TRPV3_ENST00000301365.4_Missense_Mutation_p.D519N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	519					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572																																						ENST00000576742.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				35						c.(1555-1557)Gat>Aat		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147.0	89.0	109.0					17																	3430170		2203	4300	6503	SO:0001583	missense	162514	0	0					g.chr17:3430170C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1555G>A	chr17.hg19:g.3430170C>T	ENSP00000461518:p.Asp519Asn	0					TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N|TRPV3_ENST00000301365.4_Missense_Mutation_p.D519N	p.D519N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	1	2	3	2.017774	Q8NET8	TRPV3_HUMAN		12	1876	-			Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	1	1	hg19	c.1555G>A	CCDS11029.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.217613	0.95104	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.98717	-5.09	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.98416	0.9473	L	0.33189	0.99	0.44352	D	0.997246	D;P;D;D;D;D;D;D	0.89917	1.0;0.607;0.975;1.0;0.975;0.996;0.999;0.998	D;B;P;D;D;D;D;D	0.91635	0.998;0.12;0.893;0.999;0.919;0.993;0.997;0.995	D	0.99914	1.1215	10	0.72032	D	0.01	-9.1066	17.5751	0.87946	0.0:1.0:0.0:0.0	.	101;503;503;519;503;519;519;519	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	N	519;519;503	ENSP00000301365:D519N	ENSP00000301365:D519N	D	-	1	0	0	TRPV3	3376920	3376920	0.999000	0.42202	0.950000	0.38849	0.968000	0.65278	5.187000	0.65087	2.482000	0.83794	0.638000	0.83543	GAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_145068			19	19		65	64	1		1			0	0	13	0		9.999958e-01	0	0	0	0	0	0	19	65
HEATR9	256957	broad.mit.edu	37	17	34182341	34182341	+	Missense_Mutation	SNP	G	G	T	rs2306630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34182341G>T	ENST00000311880.2	-	15	1587	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.S440Y	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		480			S -> F (in dbSNP:rs2306630). {ECO:0000269|PubMed:14702039}.		hematopoietic progenitor cell differentiation (GO:0002244)			p.S480F(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)		CTCATATACAGAGAGAACCTT	0.428																																						ENST00000311880.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S480F(1)	stomach(1)	38						c.(1438-1440)tCt>tAt									92.0	89.0	90.0					17																	34182341		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr17:34182341G>T																												ENST00000311880.2:c.1439C>A	chr17.hg19:g.34182341G>T	ENSP00000309560:p.Ser480Tyr	0					C17orf66_ENST00000592980.1_Missense_Mutation_p.S440Y	p.S480Y	NM_152781.2	NP_689994.2	1	2	3	2.015275	A2RTY3	HEAT9_HUMAN		15	1587	-		Ovarian(249;0.17)	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	1	0	hg19	c.1439C>A	CCDS11299.1	1	.	.	.	.	.	.	.	.	.	.	A	0.107	-1.143189	0.01728	.	.	ENSG00000172653	ENST00000311880	T	0.45276	0.9	4.08	2.99	0.34606	4.08	2.99	0.34606	.	0.309092	0.23631	N	0.046139	T	0.16471	0.0396	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	9	0.02654	T	1	.	6.0215	0.19632	0.785:0.0:0.215:0.0	.	440;480	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	Y	480	ENSP00000309560:S480Y	ENSP00000309560:S480Y	S	-	2	0	0	C17orf66	31206454	31206454	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	0.087000	0.14958	0.235000	0.21160	-1.434000	0.01081	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-1.131396	0	0.170000				89	88		385	378	1		1	0		0	0	84	0		1	0	0	0	0	1	0	89	385
TRPV3	162514	broad.mit.edu	37	17	3435984	3435984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000576742.1	-	8	1353	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000572519.1_Silent_p.P344P|TRPV3_ENST00000301365.4_Silent_p.P344P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	344					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632																																						ENST00000576742.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999931	0.990000	1.000000																										0				35						c.(1030-1032)ccG>ccA		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						80.0	63.0	69.0					17																	3435984		2203	4300	6503	SO:0001819	synonymous_variant	162514	22	121412	41				g.chr17:3435984C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1032G>A	chr17.hg19:g.3435984C>T		0					TRPV3_ENST00000572519.1_Silent_p.P344P|TRPV3_ENST00000301365.4_Silent_p.P344P	p.P344P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	1	2	3	2.017774	Q8NET8	TRPV3_HUMAN		8	1353	-			Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	1	1	hg19	c.1032G>A	CCDS11029.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-16.843660	1	0.170000	NM_145068			34	32		205	201	1		1	0		0	0	40	0		1	2.160420e-02	0	1	0	1	0	34	205
CCL16	6360	broad.mit.edu	37	17	34308401	34308401	+	Missense_Mutation	SNP	G	G	A	rs199602184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34308401G>A	ENST00000293275.3	-	1	131	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	19					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGAAGCCGAAGTAATGAT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20789	0.0		0.0	False		,,,				2504	0.0					ENST00000293275.3	1.000000	0.250000	1	4.500000e-01	0.740000	0.733025	0.740000	1.000000																										0				3						c.(55-57)tCg>tTg		chemokine (C-C motif) ligand 16							66.0	51.0	56.0					17																	34308401		2203	4300	6503	SO:0001583	missense	6360	2	121410	26				g.chr17:34308401G>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.56C>T	chr17.hg19:g.34308401G>A	ENSP00000293275:p.Ser19Leu	0						p.S19L	NM_004590.2	NP_004581.1	1	2	3	2.015275	O15467	CCL16_HUMAN		1	131	-		Ovarian(249;0.17)	Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	0	1	hg19	c.56C>T	CCDS11303.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.41	2.527350	0.44969	.	.	ENSG00000161573	ENST00000293275	T	0.02837	4.14	3.76	1.64	0.23874	3.76	1.64	0.23874	.	.	.	.	.	T	0.02267	0.0070	L	0.38692	1.165	0.09310	N	1	B	0.30146	0.27	B	0.14023	0.01	T	0.44892	-0.9298	9	0.37606	T	0.19	.	4.3932	0.11350	0.13:0.238:0.6319:0.0	.	19	O15467	CCL16_HUMAN	L	19	ENSP00000293275:S19L	ENSP00000293275:S19L	S	-	2	0	0	CCL16	31332514	31332514	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.391000	0.20784	0.864000	0.35578	0.462000	0.41574	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	0	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-7.855964	1	0.170000	NM_004590			4	4		68	68	0		1			0	0	19	0		8.923215e-01	0	0	0	0	0	0	4	68
CCL3	6348	broad.mit.edu	37	17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	44					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552																																						ENST00000225245.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(130-132)caG>caT		chemokine (C-C motif) ligand 3							151.0	156.0	154.0					17																	34416585		2203	4297	6500	SO:0001583	missense	6348	0	0					g.chr17:34416585C>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.132G>T	chr17.hg19:g.34416585C>A	ENSP00000225245:p.Gln44His	0					AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA	p.Q44H	NM_002983.2	NP_002974.1	1	2	3	2.015275	P10147	CCL3_HUMAN		2	214	-		Ovarian(249;0.17)		Missense_Mutation	SNP	ENST00000225245.5	1	1	hg19	c.132G>T	CCDS11307.1	1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023500	0.54683	.	.	ENSG00000006075	ENST00000225245	T	0.04917	3.53	5.4	-7.67	0.01272	5.4	-7.67	0.01272	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.283240	0.04979	N	0.465208	T	0.04634	0.0126	.	.	.	0.09310	N	1	P	0.41710	0.76	P	0.48598	0.583	T	0.36286	-0.9754	9	0.15499	T	0.54	.	0.8445	0.01158	0.2082:0.2022:0.1744:0.4152	.	44	P10147	CCL3_HUMAN	H	44	ENSP00000225245:Q44H	ENSP00000225245:Q44H	Q	-	3	2	2	CCL3	31440698	31440698	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-1.016000	0.03371	-0.948000	0.02665	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	1	0	1		2	2	2	0		0	0	112		112	114	1	2.060000	-20.000000	1	0.170000	NM_002983			109	104		532	488	1		1	0		0	0	112	0		1	9.903273e-01	0	0	0	37	0	109	532
ZNHIT3	9326	broad.mit.edu	37	17	34849821	34849821	+	Missense_Mutation	SNP	G	G	A	rs373839162		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34849821G>A	ENST00000225410.4	+	4	322	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K|ZNHIT3_ENST00000588253.1_5'UTR|RNA5SP439_ENST00000517103.1_RNA	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	86					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GAAGAAGACAGAGTTTCTTTG	0.353																																					Pancreas(89;112 2361 26810)	ENST00000225410.4	1.000000	0.160000	4.300000e-01	2.200000e-01	0.300000	0.371106	0.300000	0.280000																										0				3						c.(256-258)aGa>aAa		zinc finger, HIT-type containing 3		G	LYS/ARG	0,4406		0,0,2203	147.0	145.0	146.0		257	6.0	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNHIT3	NM_004773.2	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	86/156	34849821	1,13005	2203	4300	6503	SO:0001583	missense	9326	0	0					g.chr17:34849821G>A	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"""Zinc fingers, HIT-type"""	12309	protein-coding gene	gene with protein product		604500	"""thyroid hormone receptor interactor 3"", ""zinc finger, HIT type 3"""	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.257G>A	chr17.hg19:g.34849821G>A	ENSP00000225410:p.Arg86Lys	0					ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_5'UTR|RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K	p.R86K	NM_004773.2	NP_004764.1	1	2	3	2.015275	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	4	322	+		Breast(25;0.00957)|Ovarian(249;0.17)	A8K493|K7EQP1|Q8WVJ3	Missense_Mutation	SNP	ENST00000225410.4	1	1	hg19	c.257G>A	CCDS11312.1	0	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250359	0.59212	0.0	1.16E-4	ENSG00000108278	ENST00000225410	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.040436	0.85682	D	0.000000	T	0.41696	0.1170	L	0.46741	1.465	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.43637	-0.9379	9	0.02654	T	1	-16.3055	16.0408	0.80680	0.0:0.0:1.0:0.0	.	86	Q15649	ZNHI3_HUMAN	K	86	.	ENSP00000225410:R86K	R	+	2	0	0	ZNHIT3	31923934	31923934	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	AGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-2.665588	1	0.170000	NM_004773			13	13		528	523	0		1	1		0	0	90	0		9.995119e-01	9.870805e-01	0	16	0	279	0	13	528
TRPV1	7442	broad.mit.edu	37	17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000571088.1	-	9	1677	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	488					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)			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)	CTCGGAAAAAGAAGTAGACTC	0.433																																					Melanoma(38;962 1762 15789)	ENST00000571088.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000																										0				17						c.(1462-1464)ttC>ttA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						61.0	58.0	59.0					17																	3486644		1951	4142	6093	SO:0001583	missense	7442	0	0					g.chr17:3486644G>T	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.1464C>A	chr17.hg19:g.3486644G>T	ENSP00000461007:p.Phe488Leu	0					TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L	p.F488L	NM_018727.5	NP_061197.4	1	2	3	2.017774	Q8NER1	TRPV1_HUMAN		9	1677	-			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	1	1	hg19	c.1464C>A	CCDS45576.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411757	0.25465	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.17	-0.805	0.10879	5.17	-0.805	0.10879	.	0.046853	0.85682	D	0.000000	D	0.87529	0.6200	L	0.43923	1.385	0.54753	D	0.999989	B;B;B;B	0.19200	0.002;0.034;0.017;0.018	B;B;B;B	0.18561	0.02;0.022;0.019;0.015	T	0.75628	-0.3252	10	0.21540	T	0.41	-13.2472	10.7786	0.46365	0.4285:0.0:0.5715:0.0	.	488;486;428;499	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	488;488;486;499;428	ENSP00000382661:F488L;ENSP00000382659:F488L;ENSP00000174621:F486L;ENSP00000409627:F499L;ENSP00000311692:F428L	ENSP00000174621:F486L	F	-	3	2	2	TRPV1	3433393	3433393	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.302000	0.33459	-0.007000	0.14345	-0.302000	0.09304	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_018727			15	15		55	54	1		1	0		0	0	16	0		9.999258e-01	5.499356e-01	0	1	0	7	0	15	55
MYO19	80179	broad.mit.edu	37	17	34859841	34859841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	ENST00000431794.3	-	20	2447	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	642	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		GAGGCCACAGGCCTCCAGCTG	0.632																																						ENST00000431794.3	1.000000	0.820000	1	9.900000e-01	0.990000	0.989679	0.990000	1.000000																										0				20						c.(1924-1926)gCc>gTc		myosin XIX							18.0	21.0	20.0					17																	34859841		2049	4180	6229	SO:0001583	missense	80179	0	0					g.chr17:34859841G>A	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.1925C>T	chr17.hg19:g.34859841G>A	ENSP00000409936:p.Ala642Val	0					MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	p.A642V	NM_001163735.1	NP_001157207.1	1	2	3	2.015275	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	20	2447	-		Breast(25;0.00957)|Ovarian(249;0.17)	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	0	1	hg19	c.1925C>T	CCDS54112.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.427773	0.96131	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95307	-2.29;-3.67	5.48	5.48	0.80851	5.48	5.48	0.80851	Myosin head, motor domain (2);	.	.	.	.	D	0.97498	0.9181	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98029	1.0375	9	0.72032	D	0.01	.	17.8969	0.88891	0.0:0.0:1.0:0.0	.	642;442	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	642;442	ENSP00000409936:A642V;ENSP00000268852:A442V	ENSP00000268852:A442V	A	-	2	0	0	MYO19	31933954	31933954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.863000	0.92288	2.576000	0.86940	0.563000	0.77884	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-13.829150	1	0.170000	NM_025109			6	6		28	28	0		1	1		0	0	8	0		9.698414e-01	9.866639e-01	0	16	0	27	0	6	28
PIGW	284098	broad.mit.edu	37	17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.A314T			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	314					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)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTATGTGGCAATACACAT	0.423																																						ENST00000592983.1	1.000000	0.360000	8.000000e-01	4.600000e-01	0.590000	0.632297	0.590000	0.570000																										0				13						c.(940-942)Gca>Aca		phosphatidylinositol glycan anchor biosynthesis, class W							85.0	80.0	82.0					17																	34893890		2203	4300	6503	SO:0001583	missense	284098	0	0					g.chr17:34893890G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.940G>A	chr17.hg19:g.34893890G>A	ENSP00000468778:p.Ala314Thr	0					PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron	p.A314T			1	2	3	2.015275	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	2	1520	+		Breast(25;0.00957)|Ovarian(249;0.17)	Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	1	1	hg19	c.940G>A	CCDS11313.1	0	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794035	0.50102	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.18	2.9	0.33743	5.18	2.9	0.33743	.	0.055454	0.64402	N	0.000001	T	0.63070	0.2480	M	0.69358	2.11	0.58432	D	0.999999	B	0.29162	0.235	B	0.39068	0.289	T	0.57388	-0.7820	8	.	.	.	-1.7743	11.1881	0.48669	0.1645:0.0:0.8355:0.0	.	314	Q7Z7B1	PIGW_HUMAN	T	314	.	.	A	+	1	0	0	PIGW	31968003	31968003	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.335000	0.59298	0.533000	0.28675	0.561000	0.74099	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-4.922891	1	0.170000	NM_178517			18	18		356	349	1		1	1		0	0	74	0		9.999802e-01	6.308743e-01	0	7	0	36	0	18	356
TRPV1	7442	broad.mit.edu	37	17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000571088.1	-	5	900	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	229					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)			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)	GGGCCGCAGCCTGGACGTCTG	0.582																																					Melanoma(38;962 1762 15789)	ENST00000571088.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.995805	0.990000	1.000000																										0				17						c.(685-687)caG>caT		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						71.0	78.0	75.0					17																	3493604		2106	4229	6335	SO:0001583	missense	7442	0	0					g.chr17:3493604C>A	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.687G>T	chr17.hg19:g.3493604C>A	ENSP00000461007:p.Gln229His	0					TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H	p.Q229H	NM_018727.5	NP_061197.4	1	2	3	2.017774	Q8NER1	TRPV1_HUMAN		5	900	-			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	1	1	hg19	c.687G>T	CCDS45576.1	1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038881	0.02013	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.12	4.04	0.47022	5.12	4.04	0.47022	Ankyrin repeat-containing domain (4);	0.047547	0.85682	D	0.000000	T	0.29556	0.0737	N	0.02286	-0.61	0.34797	D	0.736369	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.38045	-0.9679	10	0.02654	T	1	-12.4387	10.4822	0.44700	0.3709:0.6291:0.0:0.0	.	229;227;229;229	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	229;229;227;229;229	ENSP00000382661:Q229H;ENSP00000382659:Q229H;ENSP00000174621:Q227H;ENSP00000409627:Q229H;ENSP00000311692:Q229H	ENSP00000174621:Q227H	Q	-	3	2	2	TRPV1	3440353	3440353	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	0.683000	0.25349	2.555000	0.86185	0.467000	0.42956	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_018727			43	42		368	362	1		1	1		0	0	71	0		1	3.700088e-01	0	2	0	10	0	43	368
SHPK	23729	broad.mit.edu	37	17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	380					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602																																						ENST00000225519.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1138-1140)Gac>Aac		sedoheptulokinase							77.0	72.0	74.0					17																	3514153		2203	4300	6503	SO:0001583	missense	23729	1	121412	32				g.chr17:3514153C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1138G>A	chr17.hg19:g.3514153C>T	ENSP00000225519:p.Asp380Asn	0					SHPK_ENST00000572705.1_5'Flank	p.D380N	NM_013276.2	NP_037408	1	2	3	2.017774	Q9UHJ6	SHPK_HUMAN		7	1240	-			B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	1	1	hg19	c.1138G>A	CCDS11030.1	1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104741	0.37145	.	.	ENSG00000197417	ENST00000225519	T	0.18657	2.2	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.332700	0.35179	N	0.003389	T	0.22360	0.0539	L	0.55990	1.75	0.29187	N	0.876141	B	0.20671	0.047	B	0.20955	0.032	T	0.15694	-1.0428	10	0.11182	T	0.66	-25.8882	18.1093	0.89530	0.0:1.0:0.0:0.0	.	380	Q9UHJ6	SHPK_HUMAN	N	380	ENSP00000225519:D380N	ENSP00000225519:D380N	D	-	1	0	0	SHPK	3460902	3460902	0.942000	0.31987	0.971000	0.41717	0.805000	0.45488	1.863000	0.39459	2.606000	0.88127	0.563000	0.77884	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2	1	0	1		2	2	2	0		0	0	93		93	90	1	2.060000	-20.000000	1	0.170000				96	93		460	452	0		1	1		0	0	93	0		1	9.988430e-01	0	12	0	38	0	96	460
PIGW	284098	broad.mit.edu	37	17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C	rs551293655	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.V361A			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	361					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)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348																																						ENST00000592983.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1081-1083)gTa>gCa		phosphatidylinositol glycan anchor biosynthesis, class W							75.0	71.0	72.0					17																	34894032		2203	4300	6503	SO:0001583	missense	284098	0	0					g.chr17:34894032T>C	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1082T>C	chr17.hg19:g.34894032T>C	ENSP00000468778:p.Val361Ala	0					PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron	p.V361A			1	2	3	2.015275	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	2	1662	+		Breast(25;0.00957)|Ovarian(249;0.17)	Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	1	1	hg19	c.1082T>C	CCDS11313.1	1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079745	0.36662	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.522372	0.19962	N	0.102182	T	0.35248	0.0925	L	0.33339	1.005	0.30931	N	0.726925	B	0.17667	0.023	B	0.21151	0.033	T	0.30707	-0.9969	8	.	.	.	-1.2408	9.4746	0.38864	0.0:0.0876:0.0:0.9124	.	361	Q7Z7B1	PIGW_HUMAN	A	361	.	.	V	+	2	0	0	PIGW	31968145	31968145	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	2.992000	0.49417	2.216000	0.71823	0.459000	0.35465	GTA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.999870	1	0.170000	NM_178517			42	42		197	196	1		1	1		0	0	45	0		1	9.874736e-01	0	12	0	23	0	42	197
LHX1	3975	broad.mit.edu	37	17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	153					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652																																						ENST00000254457.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(457-459)Gcc>Acc		LIM homeobox 1							50.0	49.0	49.0					17																	35297966		2203	4300	6503	SO:0001583	missense	3975	0	0					g.chr17:35297966G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.457G>A	chr17.hg19:g.35297966G>A	ENSP00000254457:p.Ala153Thr	0					RP11-445F12.2_ENST00000607336.1_RNA	p.A153T	NM_005568.3	NP_005559.2	1	2	3	2.015275	P48742	LHX1_HUMAN		3	1868	+		Breast(25;0.00607)	Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	1	1	hg19	c.457G>A	CCDS11316.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290446	0.59976	.	.	ENSG00000132130	ENST00000254457	D	0.90676	-2.71	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.072744	0.53938	D	0.000042	T	0.81088	0.4750	N	0.08118	0	0.58432	D	0.999994	B;B	0.15141	0.012;0.009	B;B	0.11329	0.006;0.002	T	0.74968	-0.3483	10	0.18710	T	0.47	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	139;153	B4DPA6;P48742	.;LHX1_HUMAN	T	153	ENSP00000254457:A153T	ENSP00000254457:A153T	A	+	1	0	0	LHX1	32372079	32372079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.524000	0.60552	2.648000	0.89879	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_005568			60	60		292	288	1		1			0	0	53	0		1	0	0	0	0	0	0	60	292
LHX1	3975	broad.mit.edu	37	17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	197					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667																																						ENST00000254457.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(589-591)gCc>gTc		LIM homeobox 1							28.0	31.0	30.0					17																	35298099		2195	4298	6493	SO:0001583	missense	3975	0	0					g.chr17:35298099C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.590C>T	chr17.hg19:g.35298099C>T	ENSP00000254457:p.Ala197Val	0					RP11-445F12.2_ENST00000607336.1_RNA	p.A197V	NM_005568.3	NP_005559.2	1	2	3	2.015275	P48742	LHX1_HUMAN		3	2001	+		Breast(25;0.00607)	Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	1	1	hg19	c.590C>T	CCDS11316.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.806526	0.96967	.	.	ENSG00000132130	ENST00000254457	D	0.96522	-4.04	4.26	4.26	0.50523	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.47190	1.495	0.80722	D	1	P;D	0.59767	0.952;0.986	P;D	0.63033	0.884;0.91	D	0.97090	0.9790	10	0.59425	D	0.04	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	183;197	B4DPA6;P48742	.;LHX1_HUMAN	V	197	ENSP00000254457:A197V	ENSP00000254457:A197V	A	+	2	0	0	LHX1	32372212	32372212	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	5.871000	0.69628	2.648000	0.89879	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_005568			34	34		105	105	1		1			0	0	21	0		1	0	0	0	0	0	0	34	105
ACACA	31	broad.mit.edu	37	17	35446008	35446008	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000394406.2	-	55	6972	c.6782C>A	c.(6781-6783)gCt>gAt	p.A2261D	ACACA_ENST00000353139.5_Splice_Site_p.A2298D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2261					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)			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)	CCAAACATAAGCCTGCAAACA	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000394406.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(6781-6783)gCt>gAt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						138.0	131.0	133.0					17																	35446008		2203	4300	6503	SO:0001630	splice_region_variant	31	0	0					g.chr17:35446008G>T	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.6781-1C>A	chr17.hg19:g.35446008G>T		0					ACACA_ENST00000353139.5_Splice_Site_p.A2298D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D	p.A2261D	NM_198836.1	NP_942133.1	1	2	3	2.015275	Q13085	ACACA_HUMAN		55	6972	-		Breast(25;0.00157)|Ovarian(249;0.15)	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	1	0	hg19	c.6782C>A	CCDS11317.1	1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771870	0.69992	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	P;P;D;P;B	0.53312	0.948;0.9;0.959;0.738;0.164	P;P;P;B;B	0.54706	0.593;0.743;0.759;0.252;0.115	T	0.43163	-0.9408	10	0.23891	T	0.37	-12.9246	20.2033	0.98269	0.0:0.0:1.0:0.0	.	299;960;2298;2261;2203	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	D	2298;2203;2261;2285;2183;960;387	ENSP00000344789:A2298D;ENSP00000353898:A2203D;ENSP00000377928:A2261D;ENSP00000335323:A2183D;ENSP00000354565:A387D	ENSP00000335323:A2183D	A	-	2	0	0	ACACA	32520121	32520121	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.724000	0.74747	2.779000	0.95612	0.655000	0.94253	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1		2	2	2	0		0	0	154		154	144	1	2.060000	-20.000000	1	0.170000	NM_198836	Missense_Mutation		136	134		584	569	1		1	1		0	0	154	0		1	9.839979e-01	0	7	0	23	0	136	584
ACACA	31	broad.mit.edu	37	17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000394406.2	-	54	6803	c.6613A>G	c.(6613-6615)Atc>Gtc	p.I2205V	ACACA_ENST00000353139.5_Missense_Mutation_p.I2242V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2205					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)			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)	CAATCCAGGATATCCTACATG	0.483																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000394406.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				83						c.(6613-6615)Atc>Gtc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						62.0	57.0	59.0					17																	35454098		2203	4300	6503	SO:0001583	missense	31	0	0					g.chr17:35454098T>C	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.6613A>G	chr17.hg19:g.35454098T>C	ENSP00000377928:p.Ile2205Val	0					ACACA_ENST00000353139.5_Missense_Mutation_p.I2242V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V	p.I2205V	NM_198836.1	NP_942133.1	1	2	3	2.015275	Q13085	ACACA_HUMAN		54	6803	-		Breast(25;0.00157)|Ovarian(249;0.15)	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	1	1	hg19	c.6613A>G	CCDS11317.1	1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.65	5.65	0.86999	5.65	5.65	0.86999	Carboxyl transferase (1);	0.048645	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25789	0.76	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.003;0.001;0.0	T	0.08027	-1.0742	10	0.02654	T	1	-15.445	9.0636	0.36449	0.0:0.1424:0.0:0.8576	.	243;904;2242;2205;2147	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	V	2242;2147;2205;2229;2127;904;331	ENSP00000344789:I2242V;ENSP00000353898:I2147V;ENSP00000377928:I2205V;ENSP00000335323:I2127V;ENSP00000354565:I331V	ENSP00000335323:I2127V	I	-	1	0	0	ACACA	32528211	32528211	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.479000	0.53165	2.152000	0.67230	0.528000	0.53228	ATC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_198836			38	37		220	214	0		1	1		0	0	46	0		1	9.808603e-01	0	6	0	33	0	38	220
ACACA	31	broad.mit.edu	37	17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000394406.2	-	47	5909	c.5719C>T	c.(5719-5721)Cac>Tac	p.H1907Y	ACACA_ENST00000353139.5_Missense_Mutation_p.H1944Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	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)			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)	ACTGAACTGTGCACGCTCTAA	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000394406.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996644	0.990000	1.000000																										0				83						c.(5719-5721)Cac>Tac		acetyl-CoA carboxylase alpha	Biotin(DB00121)						103.0	93.0	97.0					17																	35486405		2203	4300	6503	SO:0001583	missense	31	0	0					g.chr17:35486405G>A	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.5719C>T	chr17.hg19:g.35486405G>A	ENSP00000377928:p.His1907Tyr	0					ACACA_ENST00000353139.5_Missense_Mutation_p.H1944Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y	p.H1907Y	NM_198836.1	NP_942133.1	1	2	3	2.015275	Q13085	ACACA_HUMAN		47	5909	-		Breast(25;0.00157)|Ovarian(249;0.15)	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	1	1	hg19	c.5719C>T	CCDS11317.1	1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345306	0.24426	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.24	0.302	0.15786	5.24	0.302	0.15786	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89181	0.6642	N	0.04959	-0.14	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.81709	-0.0809	10	0.51188	T	0.08	1.3312	4.0255	0.09685	0.5187:0.0:0.3028:0.1785	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Y	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944Y;ENSP00000353898:H1849Y;ENSP00000377928:H1907Y;ENSP00000335323:H1829Y;ENSP00000354565:H33Y	ENSP00000335323:H1829Y	H	-	1	0	0	ACACA	32560518	32560518	0.155000	0.22806	0.295000	0.24960	0.978000	0.69477	0.739000	0.26173	0.118000	0.18165	0.591000	0.81541	CAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_198836			24	23		178	175	1		1	1		0	0	35	0		9.999997e-01	6.823749e-01	0	2	0	17	0	24	178
CTNS	1497	broad.mit.edu	37	17	3559853	3559853	+	Silent	SNP	C	C	T	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000046640.3	+	8	1127	c.534C>T	c.(532-534)atC>atT	p.I178I	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.I31I|CTNS_ENST00000441220.2_Silent_p.I70I|CTNS_ENST00000381870.3_Silent_p.I178I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	178	PQ-loop 1.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12012	0.0		0.0	False		,,,				2504	0.0					ENST00000046640.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(532-534)atC>atT		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)	C	,	5,4399	11.4+/-27.6	0,5,2197	150.0	109.0	123.0		534,534	-5.2	0.9	17	dbSNP_132	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTNS	NM_001031681.2,NM_004937.2	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	178/401,178/368	3559853	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1497	24	121398	45				g.chr17:3559853C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.534C>T	chr17.hg19:g.3559853C>T		0					CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000414524.2_Silent_p.I31I|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Silent_p.I70I	p.I178I	NM_004937.2	NP_004928.2	1	2	3	2.017774	O60931	CTNS_HUMAN		8	1127	+			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	1	1	hg19	c.534C>T	CCDS11031.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.667825	1	0.170000	NM_004937			45	44		186	182	1		1	1		0	0	41	0		1	9.998491e-01	0	9	0	49	0	45	186
ACACA	31	broad.mit.edu	37	17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000394406.2	-	37	4379	c.4189G>A	c.(4189-4191)Gct>Act	p.A1397T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1434T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1397					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)			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)	TTGTGATTAGCACATGGAATG	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000394406.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				83						c.(4189-4191)Gct>Act		acetyl-CoA carboxylase alpha	Biotin(DB00121)						119.0	96.0	104.0					17																	35549147		2203	4300	6503	SO:0001583	missense	31	0	0					g.chr17:35549147C>T	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.4189G>A	chr17.hg19:g.35549147C>T	ENSP00000377928:p.Ala1397Thr	0					ACACA_ENST00000353139.5_Missense_Mutation_p.A1434T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T	p.A1397T	NM_198836.1	NP_942133.1	1	2	3	2.015275	Q13085	ACACA_HUMAN		37	4379	-		Breast(25;0.00157)|Ovarian(249;0.15)	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	1	1	hg19	c.4189G>A	CCDS11317.1	1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338998	0.60963	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.103647	0.64402	D	0.000004	T	0.56277	0.1974	M	0.77616	2.38	0.80722	D	1	P;P;B;B	0.40553	0.721;0.624;0.071;0.058	P;P;B;B	0.47864	0.559;0.46;0.039;0.037	T	0.50516	-0.8819	10	0.19590	T	0.45	-13.5938	19.4103	0.94670	0.0:1.0:0.0:0.0	.	145;1434;1397;1339	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1434;1339;1397;1421;1319;145	ENSP00000344789:A1434T;ENSP00000353898:A1339T;ENSP00000377928:A1397T;ENSP00000335323:A1319T	ENSP00000335323:A1319T	A	-	1	0	0	ACACA	32623260	32623260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_198836			44	44		287	281	1		1	1		0	0	81	0		1	7.128611e-01	0	5	0	13	0	44	287
TADA2A	6871	broad.mit.edu	37	17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	433	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443																																						ENST00000394395.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1297-1299)tTc>tAc		transcriptional adaptor 2A							131.0	135.0	134.0					17																	35837053		2203	4300	6503	SO:0001583	missense	6871	0	0					g.chr17:35837053T>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1298T>A	chr17.hg19:g.35837053T>A	ENSP00000377918:p.Phe433Tyr	0					TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	p.F433Y	NM_001166105.1	NP_001159577.1	1	2	3	2.015275	O75478	TAD2A_HUMAN		16	1471	+			A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	1	1	hg19	c.1298T>A	CCDS11319.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.071877	0.93950	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	5.71	5.71	0.89125	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70809	-0.4771	10	0.38643	T	0.18	-16.576	15.9804	0.80105	0.0:0.0:0.0:1.0	.	433	O75478	TAD2A_HUMAN	Y	433;332;433	ENSP00000377918:F433Y;ENSP00000225396:F433Y	ENSP00000225396:F433Y	F	+	2	0	0	TADA2A	32911166	32911166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.176000	0.68965	0.455000	0.32223	TTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	1	0	1		2	2	2	0		0	0	189		189	189	1	2.060000	-20.000000	1	0.170000	NM_001488			194	194		681	658	1		1	1		0	0	189	0		1	9.997195e-01	0	10	0	34	0	194	681
DUSP14	11072	broad.mit.edu	37	17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T	rs199902442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L|DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14	169					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19080	0.0		0.0	False		,,,				2504	0.0					ENST00000487847.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(505-507)tCg>tTg		dual specificity phosphatase 14							55.0	56.0	56.0					17																	35872880		2203	4300	6503	SO:0001583	missense	11072	2	121412	34				g.chr17:35872880C>T	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.506C>T	chr17.hg19:g.35872880C>T	ENSP00000466299:p.Ser169Leu	0					DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L|DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L	p.S169L			1	2	3	2.015275	O95147	DUS14_HUMAN		2	1484	+		Breast(25;0.00637)|Ovarian(249;0.15)		Missense_Mutation	SNP	ENST00000487847.1	1	1	hg19	c.506C>T	CCDS11320.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.32	2.798010	0.50208	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.62232	0.04;0.04	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.112497	0.56097	D	0.000034	T	0.48132	0.1483	N	0.19112	0.55	0.38696	D	0.952888	B	0.23735	0.09	B	0.10450	0.005	T	0.50882	-0.8775	10	0.87932	D	0	.	13.7953	0.63166	0.2676:0.7324:0.0:0.0	.	169	O95147	DUS14_HUMAN	L	169	ENSP00000377912:S169L;ENSP00000377910:S169L	ENSP00000377910:S169L	S	+	2	0	0	DUSP14	32946993	32946993	0.903000	0.30736	0.971000	0.41717	0.987000	0.75469	1.805000	0.38883	2.833000	0.97629	0.585000	0.79938	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_007026			74	73		327	323	1		1	1		0	0	72	0		1	9.999989e-01	0	19	0	71	0	74	327
SYNRG	11276	broad.mit.edu	37	17	35896132	35896132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000339208.6	-	19	3755	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000345615.4_Silent_p.I1127I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000585472.1_Silent_p.I1126I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1205					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478																																						ENST00000339208.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3613-3615)atC>atT		synergin, gamma							198.0	162.0	174.0					17																	35896132		2203	4300	6503	SO:0001819	synonymous_variant	11276	0	0					g.chr17:35896132G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3615C>T	chr17.hg19:g.35896132G>A		0					SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000345615.4_Silent_p.I1127I	p.I1205I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	1	2	3	2.015275	Q9UMZ2	SYNRG_HUMAN		19	3755	-			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	1	1	hg19	c.3615C>T	CCDS11321.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.999840	1	0.170000	NM_007247			45	45		225	218	1		1	1		0	0	67	0		1	9.992457e-01	0	8	0	49	0	45	225
SYNRG	11276	broad.mit.edu	37	17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000339208.6	-	14	2581	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000588194.1_5'Flank	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	814					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463																																						ENST00000339208.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2440-2442)gAt>gGt		synergin, gamma							131.0	123.0	126.0					17																	35913384		2203	4300	6503	SO:0001583	missense	11276	0	0					g.chr17:35913384T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2441A>G	chr17.hg19:g.35913384T>C	ENSP00000343610:p.Asp814Gly	0					SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G	p.D814G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	1	2	3	2.015275	Q9UMZ2	SYNRG_HUMAN		14	2581	-			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	1	1	hg19	c.2441A>G	CCDS11321.1	1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822171	0.71028	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65732	0.4;-0.17;-0.11	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.79019	-0.1974	10	0.72032	D	0.01	-16.6853	15.7569	0.78037	0.0:0.0:0.0:1.0	.	653;736;736;736;814;814	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	G	814;653;814;736;736	ENSP00000005279:D814G;ENSP00000424893:D736G;ENSP00000377903:D736G	ENSP00000343610:D653G	D	-	2	0	0	SYNRG	32987497	32987497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_007247			94	89		308	301	1		1	1		0	0	86	0		1	9.998784e-01	0	7	0	39	0	94	308
GSG2	83903	broad.mit.edu	37	17	3628546	3628546	+	Silent	SNP	C	C	A	rs143089901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	439					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCACTCCTCCTCTATGTATT	0.463																																						ENST00000325418.4	1.000000	0.840000	1	9.700000e-01	0.990000	0.984525	0.990000	1.000000																										0										c.(1315-1317)tcC>tcA		germ cell associated 2 (haspin)							113.0	109.0	111.0					17																	3628546		2203	4300	6503	SO:0001819	synonymous_variant	83903	0	0					g.chr17:3628546C>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1317C>A	chr17.hg19:g.3628546C>A		0					ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	p.S439S	NM_031965.2	NP_114171.2	1	2	3	2.017774	Q8TF76	HASP_HUMAN		1	1336	+			Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	1	1	hg19	c.1317C>A	CCDS11036.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-14.681450	1	0.170000	NM_031965			52	52		509	500	0		1	0		0	0	115	0		1	2.519858e-02	0	1	0	2	0	52	509
GSG2	83903	broad.mit.edu	37	17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GATCATCATCTCCAAAGAGTT	0.473																																						ENST00000325418.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1615-1617)Tcc>Ccc		germ cell associated 2 (haspin)							74.0	69.0	71.0					17																	3628844		2203	4300	6503	SO:0001583	missense	83903	0	0					g.chr17:3628844T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1615T>C	chr17.hg19:g.3628844T>C	ENSP00000325290:p.Ser539Pro	0					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S539P	NM_031965.2	NP_114171.2	1	2	3	2.017774	Q8TF76	HASP_HUMAN		1	1634	+			Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	1	1	hg19	c.1615T>C	CCDS11036.1	1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734608	0.69189	.	.	ENSG00000177602	ENST00000325418	T	0.66099	-0.19	4.87	4.87	0.63330	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218716	0.30356	N	0.009804	T	0.74275	0.3695	L	0.58428	1.81	0.51482	D	0.999925	D	0.89917	1.0	D	0.74023	0.982	T	0.77112	-0.2708	10	0.87932	D	0	-29.5602	12.8971	0.58106	0.0:0.0:0.0:1.0	.	539	Q8TF76	HASP_HUMAN	P	539	ENSP00000325290:S539P	ENSP00000325290:S539P	S	+	1	0	0	GSG2	3575593	3575593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.871000	0.69628	2.139000	0.66308	0.533000	0.62120	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	0	0	1		18	2	2	1		1	1	79		79	79	1	2.060000	-3.346614	1	0.170000	NM_031965			74	73		361	357	1		1	1		1	0	79	0		1	2.755991e-01	0	4	0	2	0	74	361
ITGAE	3682	broad.mit.edu	37	17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	CTD-3195I5.4_ENST00000575043.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	953					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)			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)		GTCTCGTTGGCCAAAGACCGT	0.493																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2857-2859)Gcc>Tcc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							219.0	174.0	189.0					17																	3632827		2203	4300	6503	SO:0001583	missense	3682	0	0					g.chr17:3632827C>A	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.2857G>T	chr17.hg19:g.3632827C>A	ENSP00000263087:p.Ala953Ser	0					CTD-3195I5.4_ENST00000575043.1_RNA|ITGAE_ENST00000571185.1_Intron	p.A953S	NM_002208.4	NP_002199.3	1	2	3	2.017774	P38570	ITAE_HUMAN		24	2955	-			Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	1	1	hg19	c.2857G>T	CCDS32531.1	1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637074	0.14386	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	4.19	3.17	0.36434	4.19	3.17	0.36434	Integrin alpha-2 (1);	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P	0.47191	0.891	B	0.40199	0.322	T	0.05007	-1.0912	9	0.09338	T	0.73	.	9.5334	0.39207	0.2294:0.7706:0.0:0.0	.	953	P38570	ITAE_HUMAN	S	953	ENSP00000263087:A953S	ENSP00000263087:A953S	A	-	1	0	0	ITGAE	3579576	3579576	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.818000	0.27295	1.261000	0.44149	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.081520	1	0.170000	NM_002208			70	70		373	363	0		1	0		0	0	93	0		1	8.801645e-01	0	0	0	22	0	70	373
ITGAE	3682	broad.mit.edu	37	17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	788					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)			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)		GAGCTGGTAGCTGACTTTGAC	0.577																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2362-2364)aGc>aAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							204.0	174.0	184.0					17																	3646868		2203	4300	6503	SO:0001583	missense	3682	0	0					g.chr17:3646868C>T	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.2363G>A	chr17.hg19:g.3646868C>T	ENSP00000263087:p.Ser788Asn	0						p.S788N	NM_002208.4	NP_002199.3	1	2	3	2.017774	P38570	ITAE_HUMAN		19	2461	-			Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	1	1	hg19	c.2363G>A	CCDS32531.1	1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307908	0.01342	.	.	ENSG00000083457	ENST00000263087	T	0.40225	1.04	4.9	0.389	0.16269	4.9	0.389	0.16269	Integrin alpha-2 (1);	.	.	.	.	T	0.30572	0.0769	M	0.66939	2.045	0.24812	N	0.992634	B	0.28419	0.211	B	0.28465	0.09	T	0.36648	-0.9739	9	0.02654	T	1	.	3.6759	0.08291	0.1588:0.4428:0.3085:0.0899	.	788	P38570	ITAE_HUMAN	N	788	ENSP00000263087:S788N	ENSP00000263087:S788N	S	-	2	0	0	ITGAE	3593617	3593617	0.953000	0.32496	0.998000	0.56505	0.100000	0.18952	-0.208000	0.09371	-0.052000	0.13311	-0.178000	0.13098	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	1	0	1		2	2	2	0		0	0	177		177	177	1	2.060000	-20.000000	1	0.170000	NM_002208			153	148		755	717	1		1	0		0	0	177	0		1	9.661655e-01	0	0	0	29	0	153	755
SYNRG	11276	broad.mit.edu	37	17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000339208.6	-	14	1846	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	569	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398																																						ENST00000339208.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(1705-1707)gGt>gAt		synergin, gamma							154.0	150.0	151.0					17																	35914119		2203	4300	6503	SO:0001583	missense	11276	0	0					g.chr17:35914119C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1706G>A	chr17.hg19:g.35914119C>T	ENSP00000343610:p.Gly569Asp	0					SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D	p.G569D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	1	2	3	2.015275	Q9UMZ2	SYNRG_HUMAN		14	1846	-			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	1	1	hg19	c.1706G>A	CCDS11321.1	1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.58652	0.89;1.43;0.32;0.34	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.149646	0.64402	D	0.000011	T	0.74253	0.3692	L	0.59436	1.845	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	0.995;1.0;1.0;1.0;1.0;1.0	T	0.69749	-0.5061	10	0.39692	T	0.17	-18.8664	19.6516	0.95815	0.0:1.0:0.0:0.0	.	408;491;491;491;569;569	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	569;408;569;491;491	ENSP00000005279:G569D;ENSP00000343610:G408D;ENSP00000424893:G491D;ENSP00000377903:G491D	ENSP00000343610:G408D	G	-	2	0	0	SYNRG	32988232	32988232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_007247			72	72		450	440	1		1	1		0	0	102	0		1	9.990173e-01	0	17	0	49	0	72	450
GPR179	440435	broad.mit.edu	37	17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1706					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)				ACCTCCCAGGGACAGATTTCT	0.532																																						ENST00000342292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(5116-5118)Ccc>Acc		G protein-coupled receptor 179							78.0	80.0	79.0					17																	36484336		1938	4145	6083	SO:0001583	missense	440435	0	0					g.chr17:36484336G>T		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.5116C>A	chr17.hg19:g.36484336G>T	ENSP00000345060:p.Pro1706Thr	0					GPR179_ENST00000584976.1_5'UTR	p.P1706T	NM_001004334.2	NP_001004334.2	1	2	3	2.015275	Q6PRD1	GP179_HUMAN		11	5136	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)		Missense_Mutation	SNP	ENST00000342292.4	1	1	hg19	c.5116C>A	CCDS42308.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352287	0.61293	.	.	ENSG00000188888	ENST00000342292	T	0.55930	0.49	5.13	1.97	0.26223	5.13	1.97	0.26223	.	0.186936	0.26556	N	0.023703	T	0.60483	0.2272	M	0.72118	2.19	0.31653	N	0.646498	D	0.76494	0.999	P	0.62560	0.904	T	0.63699	-0.6578	10	0.66056	D	0.02	-9.0742	3.3315	0.07085	0.0939:0.1703:0.5596:0.1761	.	1706	Q6PRD1	GP179_HUMAN	T	1706	ENSP00000345060:P1706T	ENSP00000345060:P1706T	P	-	1	0	0	GPR179	33737862	33737862	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.563000	0.45922	1.386000	0.46466	0.655000	0.94253	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000				115	113		483	468	1		1			0	0	102	0		1	0	0	0	0	0	0	115	483
SRCIN1	80725	broad.mit.edu	37	17	36700182	36700182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	ENST00000264659.7	-	18	3517	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	970					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCTTCATGGGTGGTACACT	0.632																																						ENST00000264659.7	1.000000	0.850000	1	9.900000e-01	0.990000	0.991571	0.990000	1.000000																										0				19						c.(3292-3294)cCc>cTc		SRC kinase signaling inhibitor 1							17.0	20.0	19.0					17																	36700182		2197	4291	6488	SO:0001583	missense	80725	0	0					g.chr17:36700182G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3293C>T	chr17.hg19:g.36700182G>A	ENSP00000264659:p.Pro1098Leu	0					SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L|SRCIN1_ENST00000398579.4_5'UTR	p.P1098L	NM_025248.2	NP_079524.2	1	2	3	2.015275	Q9C0H9	SRCN1_HUMAN		18	3517	-			Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	0	1	hg19	c.3293C>T	CCDS45660.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298294	0.60195	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.48836	0.8	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.149056	0.46442	D	0.000293	T	0.41581	0.1165	L	0.50333	1.59	0.53005	D	0.999965	P;P;B	0.41848	0.763;0.557;0.358	B;B;B	0.33960	0.173;0.124;0.124	T	0.38908	-0.9639	10	0.35671	T	0.21	-20.1707	17.5529	0.87881	0.0:0.0:1.0:0.0	.	970;970;1098	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1098;879;993	ENSP00000264659:P1098L	ENSP00000264659:P1098L	P	-	2	0	0	SRCIN1	33953708	33953708	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	7.637000	0.83313	2.425000	0.82216	0.462000	0.41574	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	0	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-16.253110	1	0.170000	NM_025248			8	8		44	44	0		1	0		0	0	19	0		9.913360e-01	2.016562e-01	0	1	0	4	0	8	44
PIP4K2B	8396	broad.mit.edu	37	17	36926743	36926743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	372	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547																																						ENST00000269554.3	1.000000	0.830000	1	9.400000e-01	0.990000	0.980413	0.990000	1.000000																										0				19						c.(1114-1116)acG>acA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							224.0	198.0	207.0					17																	36926743		2203	4300	6503	SO:0001819	synonymous_variant	8396	0	0					g.chr17:36926743C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.1116G>A	chr17.hg19:g.36926743C>T		0						p.T372T	NM_003559.4	NP_003550.1	1	2	3	2.015275	P78356	PI42B_HUMAN		9	1596	-			Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	1	1	hg19	c.1116G>A	CCDS11329.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-16.689780	1	0.170000	NM_003559			66	64		672	632	0		1	1		0	0	152	0		1	9.795642e-01	0	2	0	62	0	66	672
CWC25	54883	broad.mit.edu	37	17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T	rs368538772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	240										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512																																						ENST00000225428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(718-720)Ctt>Att		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							96.0	93.0	94.0					17																	36963202		1914	4129	6043	SO:0001583	missense	54883	0	0					g.chr17:36963202G>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.718C>A	chr17.hg19:g.36963202G>T	ENSP00000225428:p.Leu240Ile	0					CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	p.L240I	NM_017748.3	NP_060218.1	1	2	3	2.015275	Q9NXE8	CWC25_HUMAN		7	1015	-			A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	1	1	hg19	c.718C>A	CCDS45663.1	1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593289	0.13875	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.29655	1.56;1.56	5.27	2.21	0.28008	5.27	2.21	0.28008	.	0.579153	0.15532	N	0.257431	T	0.23492	0.0568	L	0.51422	1.61	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.14023	0.01;0.009	T	0.19386	-1.0307	10	0.36615	T	0.2	.	4.5944	0.12322	0.2572:0.1612:0.5816:0.0	.	177;240	B4DJK2;Q9NXE8	.;CWC25_HUMAN	I	240;177	ENSP00000225428:L240I;ENSP00000438566:L177I	ENSP00000225428:L240I	L	-	1	0	0	CWC25	34216728	34216728	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.731000	0.26058	0.373000	0.24621	0.462000	0.41574	CTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_017748			66	64		308	300	1		1	1		0	0	53	0		1	9.999992e-01	0	20	0	78	0	66	308
C17orf85	55421	broad.mit.edu	37	17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000389005.4	-	13	1712	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	562							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502																																						ENST00000389005.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1684-1686)aAa>aCa		chromosome 17 open reading frame 85							158.0	152.0	154.0					17																	3716516		2203	4300	6503	SO:0001583	missense	55421	0	0					g.chr17:3716516T>G		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1685A>C	chr17.hg19:g.3716516T>G	ENSP00000373657:p.Lys562Thr	0					C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	p.K562T	NM_001114118.2	NP_001107590.1	1	2	3	2.017774	Q53F19	CQ085_HUMAN		13	1712	-			B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	1	1	hg19	c.1685A>C	CCDS45578.1	1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159664	0.38119	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.189830	0.56097	D	0.000031	T	0.37433	0.1003	N	0.24115	0.695	0.43896	D	0.996521	B	0.33694	0.421	B	0.24848	0.056	T	0.33189	-0.9878	9	0.51188	T	0.08	-19.2377	14.0665	0.64834	0.0:0.0:0.0:1.0	.	562	Q53F19	CQ085_HUMAN	T	562;282	.	ENSP00000158149:K282T	K	-	2	0	0	C17orf85	3663265	3663265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.725000	0.54970	2.281000	0.76405	0.533000	0.62120	AAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_018553			140	139		589	573	1		1	1		0	0	116	0		1	9.999951e-01	0	14	0	60	0	140	589
C17orf85	55421	broad.mit.edu	37	17	3717766	3717766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3717766G>A	ENST00000389005.4	-	12	1504	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	C17orf85_ENST00000158149.3_Missense_Mutation_p.R213W	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	493							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTTCCTAACCGCTGGCGTATA	0.507																																						ENST00000389005.4	1.000000	0.150000	5.700000e-01	2.300000e-01	0.350000	0.426266	0.350000	0.320000																										0				10						c.(1477-1479)Cgg>Tgg		chromosome 17 open reading frame 85							73.0	64.0	67.0					17																	3717766		2203	4300	6503	SO:0001583	missense	55421	0	0					g.chr17:3717766G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1477C>T	chr17.hg19:g.3717766G>A	ENSP00000373657:p.Arg493Trp	0					C17orf85_ENST00000158149.3_Missense_Mutation_p.R213W	p.R493W	NM_001114118.2	NP_001107590.1	1	2	3	2.017774	Q53F19	CQ085_HUMAN		12	1504	-			B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	0	1	hg19	c.1477C>T	CCDS45578.1	0	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993565	0.74703	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.57	3.31	0.37934	5.57	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66551	-0.5895	9	0.87932	D	0	-11.0123	11.1156	0.48258	0.0:0.0:0.5113:0.4887	.	493	Q53F19	CQ085_HUMAN	W	493;213	.	ENSP00000158149:R213W	R	-	1	2	2	C17orf85	3664515	3664515	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.328000	0.43867	1.470000	0.48102	-0.321000	0.08615	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	0	0	0		2	2	2	0		0	0	38		38	36	1	2.060000	-3.176667	1	0.170000	NM_018553			7	6		251	249	0		1	1		0	0	38	0		9.801955e-01	6.681670e-01	0	2	0	78	0	7	251
C17orf85	55421	broad.mit.edu	37	17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000389005.4	-	10	1295	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	423							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338																																						ENST00000389005.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1267-1269)aCt>aAt		chromosome 17 open reading frame 85							86.0	86.0	86.0					17																	3721599		2203	4300	6503	SO:0001583	missense	55421	0	0					g.chr17:3721599G>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1268C>A	chr17.hg19:g.3721599G>T	ENSP00000373657:p.Thr423Asn	0					C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	p.T423N	NM_001114118.2	NP_001107590.1	1	2	3	2.017774	Q53F19	CQ085_HUMAN		10	1295	-			B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	1	1	hg19	c.1268C>A	CCDS45578.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862316	0.91511	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68911	-0.5284	9	0.66056	D	0.02	-16.0792	17.8291	0.88676	0.0:0.0:1.0:0.0	.	423	Q53F19	CQ085_HUMAN	N	423;143	.	ENSP00000158149:T143N	T	-	2	0	0	C17orf85	3668348	3668348	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.855000	0.92236	2.894000	0.99253	0.591000	0.81541	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_018553			81	80		443	435	1		1	1		0	0	62	0		1	9.949532e-01	0	5	0	41	0	81	443
FBXO47	494188	broad.mit.edu	37	17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318																																						ENST00000378079.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(364-366)aaA>aaC		F-box protein 47							174.0	172.0	172.0					17																	37113493		2203	4300	6503	SO:0001583	missense	494188	0	0					g.chr17:37113493T>G		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.366A>C	chr17.hg19:g.37113493T>G	ENSP00000367319:p.Lys122Asn	0						p.K122N	NM_001008777.2	NP_001008777.2	1	2	3	2.015275	Q5MNV8	FBX47_HUMAN		4	565	-			B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	1	1	hg19	c.366A>C	CCDS32639.1	1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348317	0.61183	.	.	ENSG00000204952	ENST00000378079	T	0.50277	0.75	5.0	3.92	0.45320	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.71581	2.175	0.40979	D	0.984767	D	0.76494	0.999	D	0.80764	0.994	T	0.64162	-0.6472	10	0.87932	D	0	-3.8362	6.6748	0.23087	0.0:0.2598:0.0:0.7402	.	122	Q5MNV8	FBX47_HUMAN	N	122	ENSP00000367319:K122N	ENSP00000367319:K122N	K	-	3	2	2	FBXO47	34367019	34367019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	0.856000	0.35383	0.528000	0.53228	AAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	1	0	1		2	2	2	0		0	0	125		125	123	1	2.060000	-20.000000	1	0.170000	NM_001008777			95	94		452	446	1		1			0	0	125	0		1	0	0	0	0	0	0	95	452
PLXDC1	57125	broad.mit.edu	37	17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	391					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607																																						ENST00000315392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1171-1173)aGc>aTc		plexin domain containing 1							135.0	101.0	113.0					17																	37234180		2203	4300	6503	SO:0001583	missense	57125	0	0					g.chr17:37234180C>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1172G>T	chr17.hg19:g.37234180C>A	ENSP00000323927:p.Ser391Ile	0					PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	p.S391I	NM_020405.4	NP_065138.2	1	2	3	2.015275	Q8IUK5	PLDX1_HUMAN		11	1383	-			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	1	1	hg19	c.1172G>T	CCDS11333.1	1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573369	0.13623	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.43688	0.94;0.94	5.38	3.27	0.37495	5.38	3.27	0.37495	.	0.841724	0.11355	N	0.572507	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	P;P	0.46395	0.838;0.877	P;P	0.47470	0.451;0.548	T	0.42292	-0.9460	10	0.59425	D	0.04	-28.3204	8.3469	0.32279	0.0:0.7454:0.162:0.0925	.	351;391	B4E173;Q8IUK5	.;PXDC1_HUMAN	I	391;318;351	ENSP00000323927:S391I;ENSP00000409687:S351I	ENSP00000323927:S391I	S	-	2	0	0	PLXDC1	34487706	34487706	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.321000	0.33678	1.506000	0.48736	-0.165000	0.13383	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_020405			58	58		267	259	1		1	0		0	0	57	0		1	9.999988e-01	0	0	0	95	0	58	267
PLXDC1	57125	broad.mit.edu	37	17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	367					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557																																						ENST00000315392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1099-1101)Gcc>Acc		plexin domain containing 1							195.0	129.0	152.0					17																	37234253		2203	4300	6503	SO:0001583	missense	57125	0	0					g.chr17:37234253C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1099G>A	chr17.hg19:g.37234253C>T	ENSP00000323927:p.Ala367Thr	0					PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	p.A367T	NM_020405.4	NP_065138.2	1	2	3	2.015275	Q8IUK5	PLDX1_HUMAN		11	1310	-			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	1	1	hg19	c.1099G>A	CCDS11333.1	1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166156	0.09339	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.21734	1.99;1.99	5.2	0.627	0.17675	5.2	0.627	0.17675	.	0.467132	0.21120	N	0.079822	T	0.11324	0.0276	N	0.22421	0.69	0.31484	N	0.666856	B;B	0.26935	0.164;0.041	B;B	0.22601	0.04;0.025	T	0.33752	-0.9856	10	0.10377	T	0.69	-11.8196	11.4445	0.50114	0.2013:0.7065:0.0921:0.0	.	327;367	B4E173;Q8IUK5	.;PXDC1_HUMAN	T	367;294;327	ENSP00000323927:A367T;ENSP00000409687:A327T	ENSP00000323927:A367T	A	-	1	0	0	PLXDC1	34487779	34487779	0.111000	0.22076	0.074000	0.20217	0.112000	0.19704	0.621000	0.24418	-0.026000	0.13895	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	0		2	9	2	1		1	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_020405			55	55		262	255	1		1	0		1	0	53	0		1	9.954720e-01	0	0	0	111	0	55	262
PLXDC1	57125	broad.mit.edu	37	17	37239786	37239786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	CTD-2206N4.4_ENST00000583447.1_RNA|AC091178.1_ENST00000410562.1_RNA|PLXDC1_ENST00000444911.2_Silent_p.L265L|PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.L305L	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	305					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567																																						ENST00000315392.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.995652	0.990000	1.000000																										0				23						c.(913-915)ctG>ctA		plexin domain containing 1							83.0	50.0	62.0					17																	37239786		2203	4300	6503	SO:0001819	synonymous_variant	57125	3	121398	30				g.chr17:37239786C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.915G>A	chr17.hg19:g.37239786C>T		0					PLXDC1_ENST00000394316.2_Silent_p.L305L|AC091178.1_ENST00000410562.1_RNA|PLXDC1_ENST00000444911.2_Silent_p.L265L|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR	p.L305L	NM_020405.4	NP_065138.2	1	2	3	2.015275	Q8IUK5	PLDX1_HUMAN		9	1126	-			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	1	1	hg19	c.915G>A	CCDS11333.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.999740	1	0.170000	NM_020405			14	14		90	89	1		1	0		0	0	28	0		9.998137e-01	9.998137e-01	0	0	0	103	0	14	90
PLXDC1	57125	broad.mit.edu	37	17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	258					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587																																						ENST00000315392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(772-774)Gat>Aat		plexin domain containing 1							136.0	134.0	135.0					17																	37262146		2203	4300	6503	SO:0001583	missense	57125	0	0					g.chr17:37262146C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.772G>A	chr17.hg19:g.37262146C>T	ENSP00000323927:p.Asp258Asn	0					PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000493200.1_5'UTR	p.D258N	NM_020405.4	NP_065138.2	1	2	3	2.015275	Q8IUK5	PLDX1_HUMAN		7	983	-			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	1	1	hg19	c.772G>A	CCDS11333.1	1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604905	0.46423	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.114353	0.64402	D	0.000019	D	0.88640	0.6491	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90222	0.4272	10	0.87932	D	0	-21.06	15.5258	0.75905	0.0:1.0:0.0:0.0	.	258	Q8IUK5	PXDC1_HUMAN	N	258;185;185;218;258;185	ENSP00000323927:D258N;ENSP00000441881:D185N;ENSP00000409687:D218N;ENSP00000377851:D258N;ENSP00000393227:D185N	ENSP00000323927:D258N	D	-	1	0	0	PLXDC1	34515672	34515672	1.000000	0.71417	0.420000	0.26596	0.590000	0.36582	7.079000	0.76829	2.440000	0.82611	0.561000	0.74099	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1		2	2	2	0		0	0	141		141	139	1	2.060000	-2.869459	1	0.170000	NM_020405			152	147		623	607	1		1	0		0	0	141	0		1	9.999971e-01	0	0	0	75	0	152	623
PLXDC1	57125	broad.mit.edu	37	17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	42					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657																																						ENST00000315392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(124-126)Cgg>Tgg		plexin domain containing 1							44.0	45.0	45.0					17																	37296038		2203	4300	6503	SO:0001583	missense	57125	0	0					g.chr17:37296038G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.124C>T	chr17.hg19:g.37296038G>A	ENSP00000323927:p.Arg42Trp	0					PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000539608.1_5'UTR	p.R42W	NM_020405.4	NP_065138.2	1	2	3	2.015275	Q8IUK5	PLDX1_HUMAN		2	335	-			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	1	1	hg19	c.124C>T	CCDS11333.1	1	.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344085	0.05208	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24908	1.83	5.39	2.11	0.27256	5.39	2.11	0.27256	.	1.246720	0.05575	N	0.571727	T	0.12518	0.0304	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.36615	T	0.2	0.0837	3.5256	0.07759	0.0912:0.2012:0.5364:0.1712	.	42	Q8IUK5	PXDC1_HUMAN	W	42	ENSP00000323927:R42W	ENSP00000323927:R42W	R	-	1	2	2	PLXDC1	34549564	34549564	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	1.263000	0.33004	0.167000	0.19631	-0.397000	0.06425	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.234657	1	0.170000	NM_020405			52	51		277	271	1		1	0		0	0	68	0		1	9.891834e-01	0	0	0	40	0	52	277
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617																																						ENST00000333461.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S232N(1)	large_intestine(1)	17						c.(694-696)aGc>aAc		SH3 and cysteine rich domain 2							89.0	90.0	89.0					17																	37371375		2203	4300	6503	SO:0001583	missense	342667	0	0					g.chr17:37371375C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.695G>A	chr17.hg19:g.37371375C>T	ENSP00000327509:p.Ser232Asn	0						p.S232N	NM_198993.3	NP_945344.1	1	2	3	2.015275	Q6ZMT1	STAC2_HUMAN		5	1064	-			Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	1	1	hg19	c.695G>A	CCDS11335.1	1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	0	STAC2	34624901	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	1	0	1		2	2	2	0		0	0	84		84	80	1	2.060000	-20.000000	1	0.170000	NM_198993			88	87		386	378	1		1	0		0	0	84	0		1	4.568770e-01	0	0	0	8	0	88	386
MED1	5469	broad.mit.edu	37	17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000300651.6	-	17	3948	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3724-3726)gGc>gAc		mediator complex subunit 1							89.0	88.0	88.0					17																	37564749		2203	4300	6503	SO:0001583	missense	5469	0	0					g.chr17:37564749C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3725G>A	chr17.hg19:g.37564749C>T	ENSP00000300651:p.Gly1242Asp	0	HNSCC(31;0.082)				CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	p.G1242D	NM_004774.3	NP_004765.2	1	2	3	2.015275	O95243	MBD4_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	17	3948	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	1	1	hg19	c.3725G>A	CCDS11336.1	1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054042	0.36277	.	.	ENSG00000125686	ENST00000300651	T	0.53423	0.62	5.35	4.38	0.52667	5.35	4.38	0.52667	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.38521	D	0.948728	B	0.27853	0.191	B	0.23275	0.045	T	0.12915	-1.0529	9	0.19147	T	0.46	-1.542	9.8581	0.41098	0.0:0.7876:0.1396:0.0728	.	1242	Q15648	MED1_HUMAN	D	1242	ENSP00000300651:G1242D	ENSP00000300651:G1242D	G	-	2	0	0	MED1	34818275	34818275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	1.620000	0.50308	0.655000	0.94253	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_004774			73	71		297	291	1		1	1		0	0	82	0		1	9.999980e-01	0	16	0	64	0	73	297
MED1	5469	broad.mit.edu	37	17	37584042	37584042	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000394287.3	-	10	856	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000300651.6_Splice_Site_p.G217G			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000394287.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				59						c.(649-651)ggT>ggC		mediator complex subunit 1							73.0	74.0	74.0					17																	37584042		2203	4300	6503	SO:0001630	splice_region_variant	5469	0	0					g.chr17:37584042A>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.650-1T>C	chr17.hg19:g.37584042A>G		0	HNSCC(31;0.082)				MED1_ENST00000300651.6_Splice_Site_p.G217G	p.G217G			1	2	3	2.015275	O95243	MBD4_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	10	856	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Splice_Site	SNP	ENST00000394287.3	1	0	hg19	c.651T>C		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_004774	Silent		20	19		93	92	1		1	1		0	0	30	0		9.999971e-01	9.911706e-01	0	10	0	29	0	20	93
CDK12	51755	broad.mit.edu	37	17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	211					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		17	17q12	17q12	51755	Mis, N, F	cyclin-dependent kinase 12				E	E			serous ovarian		0				70						c.(631-633)aAa>aCa		cyclin-dependent kinase 12																																				SO:0001583	missense	51755	3	121412	38				g.chr17:37618956A>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.632A>C	chr17.hg19:g.37618956A>C	ENSP00000398880:p.Lys211Thr	0	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	1	2	3	2.015275	Q9NYV4	CDK12_HUMAN		1	665	+			A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	1	1	hg19	c.632A>C	CCDS11337.1	1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113683	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.000000	0.46442	D	0.000288	T	0.56992	0.2023	L	0.44542	1.39	0.39766	D	0.97209	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.83275	0.994;0.968;0.996	T	0.62282	-0.6887	10	0.72032	D	0.01	-10.8059	14.8276	0.70125	1.0:0.0:0.0:0.0	.	211;211;211	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	211	ENSP00000407720:K211T;ENSP00000398880:K211T	ENSP00000407720:K211T	K	+	2	0	0	CDK12	34872482	34872482	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.154000	0.77437	1.907000	0.55213	0.379000	0.24179	AAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_016507			119	118		411	403	1		1	1		0	0	101	0		1	1	0	24	0	67	0	119	411
CDK12	51755	broad.mit.edu	37	17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	526					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		17	17q12	17q12	51755	Mis, N, F	cyclin-dependent kinase 12				E	E			serous ovarian		0				70						c.(1576-1578)cCt>cAt		cyclin-dependent kinase 12							144.0	153.0	150.0					17																	37627662		2203	4300	6503	SO:0001583	missense	51755	0	0					g.chr17:37627662C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1577C>A	chr17.hg19:g.37627662C>A	ENSP00000398880:p.Pro526His	0	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	1	2	3	2.015275	Q9NYV4	CDK12_HUMAN		2	1610	+			A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	1	1	hg19	c.1577C>A	CCDS11337.1	1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672699	0.29693	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72051	-0.62;-0.59	5.99	-6.48	0.01896	5.99	-6.48	0.01896	.	0.643554	0.13842	N	0.358957	T	0.47783	0.1464	N	0.19112	0.55	0.31816	N	0.626596	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.003;0.003;0.008	T	0.14364	-1.0475	10	0.62326	D	0.03	6.8656	8.384	0.32488	0.0976:0.3726:0.0:0.5298	.	525;526;526	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	526	ENSP00000407720:P526H;ENSP00000398880:P526H	ENSP00000407720:P526H	P	+	2	0	0	CDK12	34881188	34881188	0.945000	0.32115	0.480000	0.27341	0.718000	0.41266	0.153000	0.16323	-1.116000	0.02969	-0.140000	0.14226	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-3.971489	1	0.170000	NM_016507			175	164		622	593	1		1	1		0	0	137	0		1	9.999999e-01	0	17	0	64	0	175	622
ERBB2	2064	broad.mit.edu	37	17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000269571.5	+	3	418	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	87					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		0				247						c.(259-261)Gct>Act		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)						79.0	74.0	76.0					17																	37864607		2203	4300	6503	SO:0001583	missense	2064	1	121410	26				g.chr17:37864607G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.259G>A	chr17.hg19:g.37864607G>A	ENSP00000269571:p.Ala87Thr	0	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T	p.A87T			1	2	3	2.015275	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	3	418	+	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)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.259G>A	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750857	0.69533	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.21	5.21	0.72293	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.86871	0.6037	L	0.43152	1.355	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;0.936	D	0.87494	0.2429	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	57;72;87;87	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	T	57;72;87;57;57	ENSP00000385185:A57T;ENSP00000446466:A72T;ENSP00000269571:A87T;ENSP00000443562:A57T;ENSP00000446382:A57T	ENSP00000269571:A87T	A	+	1	0	0	ERBB2	35118133	35118133	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.593749	1	0.170000				93	92		358	349	1		1	1		0	0	97	0		1	1	0	10	0	159	0	93	358
ERBB2	2064	broad.mit.edu	37	17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000269571.5	+	8	1174	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	339					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	0.820000	1	9.500000e-01	0.990000	0.980068	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		0				247						c.(1015-1017)Gcc>Acc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)						108.0	84.0	92.0					17																	37868294		2203	4300	6503	SO:0001583	missense	2064	0	0					g.chr17:37868294G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1015G>A	chr17.hg19:g.37868294G>A	ENSP00000269571:p.Ala339Thr	0	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T	p.A339T			1	2	3	2.015275	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	8	1174	+	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)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.1015G>A	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;T;D;D;D	0.84070	-1.8;-1.8;0.98;-1.8;-1.8;-1.8	5.3	4.3	0.51218	5.3	4.3	0.51218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.76550	0.4003	L	0.29908	0.895	0.42433	D	0.992688	B;B;B;B;B	0.33528	0.019;0.057;0.057;0.024;0.416	B;B;B;B;B	0.38712	0.005;0.015;0.014;0.02;0.28	T	0.78089	-0.2340	9	0.72032	D	0.01	.	11.4994	0.50428	0.0:0.2466:0.7534:0.0	.	63;309;324;339;339	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	T	309;324;63;339;309;309	ENSP00000385185:A309T;ENSP00000446466:A324T;ENSP00000404047:A63T;ENSP00000269571:A339T;ENSP00000443562:A309T;ENSP00000446382:A309T	ENSP00000269571:A339T	A	+	1	0	0	ERBB2	35121820	35121820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.770000	0.55310	2.766000	0.95052	0.491000	0.48974	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	0	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-15.633650	1	0.170000				54	54		542	531	1		1	1		0	0	112	0		1	9.999995e-01	0	50	0	160	0	54	542
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	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.V842I(6)		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)	TGTGCGGCTCGTACACAGGGA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	247						c.(2524-2526)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)						70.0	61.0	64.0					17																	37881332		2203	4300	6503	SO:0001583	missense	2064	0	0					g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	chr17.hg19:g.37881332G>A	ENSP00000269571:p.Val842Ile	0	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I	p.V842I			1	2	3	2.015275	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	21	2683	+	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)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.2524G>A	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	0	ERBB2	35134858	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.232479	1	0.170000				50	49		211	207	1		1	1		0	0	48	0		1	1	0	135	0	82	0	50	211
ERBB2	2064	broad.mit.edu	37	17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000269571.5	+	23	2949	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	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)			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)	CAGCCCGGGAGATCCCTGACC	0.592		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		0				247						c.(2788-2790)gaG>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	G	ASP/GLU,ASP/GLU	0,4406		0,0,2203	82.0	73.0	76.0		2700,2790	2.4	1.0	17	dbSNP_134	76	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	45,45	0,5,6498	TT,TG,GG		0.0581,0.0,0.0384	benign,benign	900/1226,930/1256	37882024	5,13001	2203	4300	6503	SO:0001583	missense	2064	53	121412	49				g.chr17:37882024G>T	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.2790G>T	chr17.hg19:g.37882024G>T	ENSP00000269571:p.Glu930Asp	0	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D	p.E930D			1	2	3	2.015275	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	23	2949	+	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)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.2790G>T	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823520	0.32237	0.0	5.81E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	2.44	0.29823	5.53	2.44	0.29823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71143	0.3305	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20052	0.041;0.013;0.041	B;B;B	0.24394	0.053;0.005;0.053	T	0.61686	-0.7012	9	0.45353	T	0.12	.	9.0774	0.36531	0.2885:0.0:0.7115:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	D	900;915;654;930;900	ENSP00000385185:E900D;ENSP00000446466:E915D;ENSP00000404047:E654D;ENSP00000269571:E930D;ENSP00000443562:E900D	ENSP00000269571:E930D	E	+	3	2	2	ERBB2	35135550	35135550	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	0.225000	0.17757	0.291000	0.22468	-0.251000	0.11542	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.105092	1	0.170000				62	62		246	232	1		1	1		0	0	68	0		1	1	0	195	0	148	0	62	246
ERBB2	2064	broad.mit.edu	37	17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000269571.5	+	27	3596	c.3437G>A	c.(3436-3438)cGg>cAg	p.R1146Q	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1146					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		0				247						c.(3436-3438)cGg>cAg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)						38.0	46.0	43.0					17																	37883966		2203	4300	6503	SO:0001583	missense	2064	2	121248	35				g.chr17:37883966G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3437G>A	chr17.hg19:g.37883966G>A	ENSP00000269571:p.Arg1146Gln	0	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q	p.R1146Q			1	2	3	2.015275	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	27	3596	+	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)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.3437G>A	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365160	0.05103	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75154	-0.91;-0.91;-0.89;-0.91;-0.91	5.06	-1.24	0.09435	5.06	-1.24	0.09435	.	.	.	.	.	T	0.62380	0.2423	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.47711	-0.9096	9	0.24483	T	0.36	.	9.9529	0.41649	0.4335:0.0:0.5665:0.0	.	870;1131;1146	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1116;1131;870;1146;1116	ENSP00000385185:R1116Q;ENSP00000446466:R1131Q;ENSP00000404047:R870Q;ENSP00000269571:R1146Q;ENSP00000443562:R1116Q	ENSP00000269571:R1146Q	R	+	2	0	0	ERBB2	35137492	35137492	0.000000	0.05858	0.068000	0.19968	0.277000	0.26821	0.169000	0.16641	-0.072000	0.12864	0.455000	0.32223	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000				53	51		205	195	1		1	1		0	0	46	0		1	1	0	36	0	297	0	53	205
GRB7	2886	broad.mit.edu	37	17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A	rs200112951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	125	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCACAGCTCGCCACGTGTGT	0.622																																						ENST00000309156.4	1.000000	0.270000	6.600000e-01	3.600000e-01	0.470000	0.528600	0.470000	0.450000																										0				18						c.(373-375)cGc>cAc		growth factor receptor-bound protein 7							70.0	66.0	67.0					17																	37899218		2203	4300	6503	SO:0001583	missense	2886	15	121410	42				g.chr17:37899218G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.374G>A	chr17.hg19:g.37899218G>A	ENSP00000310771:p.Arg125His	0					GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H	p.R125H	NM_005310.3	NP_005301.2	1	2	3	2.015275	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)	4	631	+	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)		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	1	1	hg19	c.374G>A	CCDS11345.1	0	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813108	0.50527	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.77	4.77	0.60923	4.77	4.77	0.60923	Ras-association (3);	0.168736	0.51477	D	0.000089	T	0.23171	0.0560	L	0.60845	1.875	0.80722	D	1	B;P	0.36535	0.021;0.557	B;B	0.31337	0.004;0.128	T	0.07102	-1.0790	10	0.59425	D	0.04	-20.5719	17.0724	0.86578	0.0:0.0:1.0:0.0	.	125;125	Q14451-2;Q14451	.;GRB7_HUMAN	H	125;125;125;125;148;125	ENSP00000311752:R125H;ENSP00000310771:R125H;ENSP00000377761:R125H;ENSP00000377759:R125H;ENSP00000403459:R148H;ENSP00000377754:R125H	ENSP00000310771:R125H	R	+	2	0	0	GRB7	35152744	35152744	0.998000	0.40836	0.969000	0.41365	0.046000	0.14306	5.327000	0.65881	2.653000	0.90120	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.205873	1	0.170000	NM_005310			15	15		376	369	0		1	1		0	0	62	0		9.998573e-01	8.970177e-01	0	9	0	93	0	15	376
GRB7	2886	broad.mit.edu	37	17	37899533	37899533	+	Silent	SNP	C	C	T	rs377657100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	188					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607																																						ENST00000309156.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(562-564)taC>taT		growth factor receptor-bound protein 7		C	,,,	0,4406		0,0,2203	93.0	89.0	90.0		564,633,564,564	-10.1	0.3	17		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	188/533,211/556,188/533,188/533	37899533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2886	10	121412	41				g.chr17:37899533C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.564C>T	chr17.hg19:g.37899533C>T		0					GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000394204.1_Silent_p.Y188Y	p.Y188Y	NM_005310.3	NP_005301.2	1	2	3	2.015275	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)	5	821	+	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)		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	1	1	hg19	c.564C>T	CCDS11345.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_005310			70	70		301	296	0		1	1		0	0	80	0		1	1	0	68	0	79	0	70	301
P2RX1	5023	broad.mit.edu	37	17	3801339	3801339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	366					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATTTGAACTTCTTCTGCTTGT	0.607																																						ENST00000225538.3	1.000000	0.180000	4.100000e-01	2.400000e-01	0.300000	0.379158	0.300000	0.290000																										0				13						c.(1096-1098)aaG>aaA		purinergic receptor P2X, ligand-gated ion channel, 1							105.0	108.0	107.0					17																	3801339		2203	4300	6503	SO:0001819	synonymous_variant	5023	0	0					g.chr17:3801339C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1098G>A	chr17.hg19:g.3801339C>T		0						p.K366K	NM_002558.2	NP_002549.1	1	2	3	2.017774	P51575	P2RX1_HUMAN		11	1372	-			Q9UK84	Silent	SNP	ENST00000225538.3	1	1	hg19	c.1098G>A	CCDS11040.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	0	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-2.948974	1	0.170000	NM_002558			21	21		825	811	0		1	0		0	0	110	0		9.999970e-01	4.463283e-02	0	0	0	13	0	21	825
GRB7	2886	broad.mit.edu	37	17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	334	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617																																						ENST00000309156.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(1000-1002)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	28.0	31.0	30.0		1001,1070,1001,1001	5.2	1.0	17	dbSNP_134	30	0,8600		0,0,4300	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/533,357/556,334/533,334/533	37901227	1,13003	2202	4300	6502	SO:0001583	missense	2886	2	121406	28				g.chr17:37901227G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1001G>A	chr17.hg19:g.37901227G>A	ENSP00000310771:p.Arg334His	0					GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H	p.R334H	NM_005310.3	NP_005301.2	1	2	3	2.015275	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)	9	1258	+	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)		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	1	1	hg19	c.1001G>A	CCDS11345.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.459949	0.96240	2.27E-4	0.0	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.17	5.17	0.71159	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048350	0.85682	D	0.000000	D	0.89061	0.6608	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	D	0.90993	0.4836	10	0.87932	D	0	-32.8545	18.4577	0.90727	0.0:0.0:1.0:0.0	.	334;334	Q14451-2;Q14451	.;GRB7_HUMAN	H	334;334;334;334;357;334	ENSP00000311752:R334H;ENSP00000310771:R334H;ENSP00000377761:R334H;ENSP00000377759:R334H;ENSP00000403459:R357H;ENSP00000377754:R334H	ENSP00000310771:R334H	R	+	2	0	0	GRB7	35154753	35154753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	2.681000	0.91329	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_005310			32	32		134	133	1		1	1		0	0	21	0		1	9.999969e-01	0	40	0	49	0	32	134
ZPBP2	124626	broad.mit.edu	37	17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000348931.4	+	8	1153	c.962A>G	c.(961-963)tAt>tGt	p.Y321C	ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C|ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y299C	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	321					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408																																						ENST00000348931.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(961-963)tAt>tGt		zona pellucida binding protein 2							203.0	188.0	193.0					17																	38033007		2203	4300	6503	SO:0001583	missense	124626	0	0					g.chr17:38033007A>G	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.962A>G	chr17.hg19:g.38033007A>G	ENSP00000335384:p.Tyr321Cys	0					ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C|ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y299C	p.Y321C	NM_199321.2	NP_955353.1	1	2	3	2.015275	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)	8	1153	+	Colorectal(19;0.000442)		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	1	1	hg19	c.962A>G	CCDS11352.1	1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626078	0.14257	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.61627	0.09;0.09	5.96	4.89	0.63831	5.96	4.89	0.63831	.	0.000000	0.56097	D	0.000023	T	0.73536	0.3599	M	0.73962	2.25	0.37904	D	0.931149	B;D	0.89917	0.36;1.0	B;D	0.97110	0.181;1.0	T	0.78206	-0.2294	10	0.87932	D	0	-19.5048	10.4054	0.44254	0.9256:0.0:0.0744:0.0	.	299;321	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	321;299	ENSP00000335384:Y321C;ENSP00000367174:Y299C	ENSP00000335384:Y321C	Y	+	2	0	0	ZPBP2	35286533	35286533	0.986000	0.35501	0.350000	0.25708	0.502000	0.33828	3.932000	0.56537	1.082000	0.41137	0.533000	0.62120	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_198844			154	154		783	765	1		1			0	0	177	0		1	0	0	0	0	0	0	154	783
GSDMB	55876	broad.mit.edu	37	17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394179.1	-	5	753	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000394175.2_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q			Q8TAX9	GSDMB_HUMAN	gasdermin B	208						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522																																						ENST00000394179.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(622-624)cGa>cAa		gasdermin B							181.0	170.0	174.0					17																	38065249		2203	4300	6503	SO:0001583	missense	55876	0	0					g.chr17:38065249C>T	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.623G>A	chr17.hg19:g.38065249C>T	ENSP00000377733:p.Arg208Gln	0					GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000394175.2_Missense_Mutation_p.R208Q	p.R208Q			1	2	3	2.015275	Q8TAX9	GSDMB_HUMAN		5	753	-			B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	1	1	hg19	c.623G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046504|3.046504	0.55110|0.55110	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73	3.13|3.13	1.11|1.11	0.20524|0.20524	3.13|3.13	1.11|1.11	0.20524|0.20524	.|.	.|0.184561	.|0.25045	.|N	.|0.033565	T|T	0.39784|0.39784	0.1091|0.1091	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;P;P	.|0.89917	.|1.0;1.0;0.772;0.772	.|D;D;B;B	.|0.91635	.|0.999;0.992;0.121;0.121	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.46703	.|T	.|0.11	.|.	5.3822|5.3822	0.16197|0.16197	0.0:0.7316:0.0:0.2684|0.0:0.7316:0.0:0.2684	.|.	.|208;208;208;208	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	K|Q	140|208	.|ENSP00000353465:R208Q;ENSP00000377729:R208Q;ENSP00000312584:R208Q;ENSP00000430157:R208Q;ENSP00000415049:R208Q;ENSP00000377733:R208Q	.|ENSP00000312584:R208Q	E|R	-|-	1|2	0|0	0|0	GSDMB|GSDMB	35318775|35318775	35318775|35318775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-0.139000|-0.139000	0.10358|0.10358	0.347000|0.347000	0.23924|0.23924	0.609000|0.609000	0.83330|0.83330	GAG|CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-3.320721	1	0.170000	NM_018530			181	177		777	754	1		1	1		0	0	193	0		1	1	0	62	0	75	0	181	777
PSMD3	5709	broad.mit.edu	37	17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20560	0.0		0.0	False		,,,				2504	0.0				Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(538-540)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	125.0	117.0	120.0		539	5.3	1.0	17	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSMD3	NM_002809.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	180/535	38142955	3,13003	2203	4300	6503	SO:0001583	missense	5709	16	121412	45				g.chr17:38142955G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.539G>A	chr17.hg19:g.38142955G>A	ENSP00000264639:p.Arg180His	0					PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	p.R180H	NM_002809.3	NP_002800.2	1	2	3	2.015275	O43242	PSMD3_HUMAN		3	713	+	Colorectal(19;0.000442)		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	1	1	hg19	c.539G>A	CCDS11356.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.19	3.051901	0.55218	4.54E-4	1.16E-4	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76709	-1.04;-1.04	5.35	5.35	0.76521	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.104781	0.64402	D	0.000005	T	0.69886	0.3161	L	0.31752	0.955	0.58432	D	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.64433	-0.6409	10	0.41790	T	0.15	-5.143	18.687	0.91568	0.0:0.0:1.0:0.0	.	180	O43242	PSMD3_HUMAN	H	180;167;42	ENSP00000264639:R180H;ENSP00000442508:R42H	ENSP00000264639:R180H	R	+	2	0	0	PSMD3	35396481	35396481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.417000	0.73337	2.495000	0.84180	0.462000	0.41574	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_002809			113	110		542	536	1		1	1		0	0	135	0		1	1	0	100	0	326	0	113	542
PSMD3	5709	broad.mit.edu	37	17	38151281	38151281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCCAGCCCTCCCTCAAGCGCT	0.602																																					Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4	1.000000	0.280000	5.700000e-01	3.500000e-01	0.440000	0.493391	0.440000	0.420000																										0				26						c.(1054-1056)tcC>tcT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							93.0	98.0	96.0					17																	38151281		2203	4300	6503	SO:0001819	synonymous_variant	5709	0	0					g.chr17:38151281C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1056C>T	chr17.hg19:g.38151281C>T		0					PSMD3_ENST00000541736.1_Silent_p.S214S	p.S352S	NM_002809.3	NP_002800.2	1	2	3	2.015275	O43242	PSMD3_HUMAN		7	1230	+	Colorectal(19;0.000442)		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	1	1	hg19	c.1056C>T	CCDS11356.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	0	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-2.998868	1	0.170000	NM_002809			26	24		698	678	0		1	1		0	0	141	0		9.999999e-01	9.999998e-01	0	48	0	625	0	26	698
MSL1	339287	broad.mit.edu	37	17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	323					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478																																						ENST00000398532.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999459	0.990000	1.000000																										0				7						c.(967-969)gGg>gAg		male-specific lethal 1 homolog (Drosophila)							64.0	65.0	65.0					17																	38282635		1939	4137	6076	SO:0001583	missense	339287	0	0					g.chr17:38282635G>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.968G>A	chr17.hg19:g.38282635G>A	ENSP00000381543:p.Gly323Glu	0					MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	p.G323E	NM_001012241.1	NP_001012241.1	1	2	3	2.015275	Q68DK7	MSL1_HUMAN		2	1283	+			Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	1	1	hg19	c.968G>A		1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018305	0.54576	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.136028	0.64402	D	0.000002	T	0.57961	0.2089	N	0.08118	0	0.50313	D	0.999862	D	0.71674	0.998	D	0.64321	0.924	T	0.60786	-0.7194	9	0.32370	T	0.25	-13.4448	19.8722	0.96854	0.0:0.0:1.0:0.0	.	323	Q68DK7	MSL1_HUMAN	E	60;323	.	ENSP00000341409:G60E	G	+	2	0	0	MSL1	35536161	35536161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.496000	0.73670	2.793000	0.96121	0.655000	0.94253	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_001012241			23	22		140	137	1		1	1		0	0	51	0		9.999995e-01	1	0	33	0	179	0	23	140
MSL1	339287	broad.mit.edu	37	17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	517	Interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478																																						ENST00000398532.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999826	0.990000	1.000000																										0				7						c.(1549-1551)aGg>aTg		male-specific lethal 1 homolog (Drosophila)							69.0	71.0	70.0					17																	38289356		1969	4164	6133	SO:0001583	missense	339287	0	0					g.chr17:38289356G>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1550G>T	chr17.hg19:g.38289356G>T	ENSP00000381543:p.Arg517Met	0					MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	p.R517M	NM_001012241.1	NP_001012241.1	1	2	3	2.015275	Q68DK7	MSL1_HUMAN		6	1865	+			Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	1	1	hg19	c.1550G>T		1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193403	0.58017	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.62639	0.01	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.63843	1.955	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	8	0.54805	T	0.06	-1.7679	18.5758	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	M	254;517	ENSP00000381543:R517M	ENSP00000341409:R254M	R	+	2	0	0	MSL1	35542882	35542882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.458000	0.97634	2.683000	0.91414	0.655000	0.94253	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999970	1	0.170000	NM_001012241			12	12		36	36	1		1	1		0	0	15	0		9.995251e-01	9.999999e-01	0	32	0	101	0	12	36
WIPF2	147179	broad.mit.edu	37	17	38412732	38412732	+	Silent	SNP	G	G	A	rs573803169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P|WIPF2_ENST00000585043.1_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	7	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCTCCCCCGCCACCCCCAC	0.488										HNSCC(43;0.11)																												ENST00000323571.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(19-21)ccG>ccA		WAS/WASL interacting protein family, member 2							108.0	98.0	101.0					17																	38412732		2203	4300	6503	SO:0001819	synonymous_variant	147179	2	121412	34				g.chr17:38412732G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.21G>A	chr17.hg19:g.38412732G>A		0	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000585043.1_Silent_p.P7P	p.P7P	NM_133264.4	NP_573571.1	1	2	3	2.015275	Q8TF74	WIPF2_HUMAN		2	261	+			A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	1	0	hg19	c.21G>A	CCDS11364.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	1	0	1		2	2	2	0		0	0	86		86	83	1	2.060000	-2.777445	1	0.170000	NM_133264			70	68		340	332	1		1	1		0	0	86	0		1	9.999998e-01	0	34	0	76	0	70	340
WIPF2	147179	broad.mit.edu	37	17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	304					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582										HNSCC(43;0.11)																												ENST00000323571.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(910-912)cCa>cTa		WAS/WASL interacting protein family, member 2							49.0	56.0	53.0					17																	38421339		2201	4299	6500	SO:0001583	missense	147179	0	0					g.chr17:38421339C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.911C>T	chr17.hg19:g.38421339C>T	ENSP00000320924:p.Pro304Leu	0	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L	p.P304L	NM_133264.4	NP_573571.1	1	2	3	2.015275	Q8TF74	WIPF2_HUMAN		5	1151	+			A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	1	1	hg19	c.911C>T	CCDS11364.1	1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190324	0.21954	.	.	ENSG00000171475	ENST00000323571	T	0.33438	1.41	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.125722	0.64402	D	0.000020	T	0.17152	0.0412	N	0.11255	0.115	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.12400	-1.0549	10	0.20046	T	0.44	-7.7117	13.026	0.58814	0.0:0.9261:0.0:0.0739	.	304	Q8TF74	WIPF2_HUMAN	L	304	ENSP00000320924:P304L	ENSP00000320924:P304L	P	+	2	0	0	WIPF2	35674865	35674865	0.776000	0.28616	0.995000	0.50966	0.892000	0.51952	4.679000	0.61649	2.767000	0.95098	0.555000	0.69702	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	0	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-2.673062	1	0.170000	NM_133264			118	116		584	555	1		1	1		0	0	120	0		1	9.999954e-01	0	27	0	60	0	118	584
WIPF2	147179	broad.mit.edu	37	17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	347					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R347Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCATACCGAATGCATGGG	0.612										HNSCC(43;0.11)																												ENST00000323571.4	1.000000	0.460000	9.200000e-01	5.700000e-01	0.710000	0.734738	0.710000	0.690000																										1	Substitution - Missense(1)	p.R347Q(1)	prostate(1)	30						c.(1039-1041)cGa>cAa		WAS/WASL interacting protein family, member 2							67.0	62.0	64.0					17																	38430111		2203	4300	6503	SO:0001583	missense	147179	2	121408	30				g.chr17:38430111G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1040G>A	chr17.hg19:g.38430111G>A	ENSP00000320924:p.Arg347Gln	0	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q	p.R347Q	NM_133264.4	NP_573571.1	1	2	3	2.015275	Q8TF74	WIPF2_HUMAN		6	1280	+			A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	1	1	hg19	c.1040G>A	CCDS11364.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.627069	0.96671	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.48836	1.27;0.8;0.8	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.69078	0.962;0.997	B;P	0.52598	0.194;0.703	T	0.52859	-0.8519	10	0.30854	T	0.27	-6.6071	18.9492	0.92635	0.0:0.0:1.0:0.0	.	89;347	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Q	347;89;89	ENSP00000320924:R347Q;ENSP00000377663:R89Q;ENSP00000439175:R89Q	ENSP00000320924:R347Q	R	+	2	0	0	WIPF2	35683637	35683637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.554000	0.67294	2.646000	0.89796	0.561000	0.74099	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	1	0	1		2	2	2	0		0	0	66		66	61	1	2.060000	-3.221727	1	0.170000	NM_133264			24	24		389	363	1		1	1		0	0	66	0		9.999993e-01	9.252090e-01	0	10	0	64	0	24	389
ATP2A3	489	broad.mit.edu	37	17	3844772	3844772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000352011.3	-	13	1776	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	574					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)			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)		GCTCCATGTCCTCCTTCCTTG	0.642																																					GBM(32;29 774 15719 37967)	ENST00000352011.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1720-1722)gaG>gaA		ATPase, Ca++ transporting, ubiquitous							99.0	95.0	96.0					17																	3844772		2203	4300	6503	SO:0001819	synonymous_variant	489	0	0					g.chr17:3844772C>T		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.1722G>A	chr17.hg19:g.3844772C>T		0					ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E|ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR	p.E574E			1	2	3	2.017774	Q93084	AT2A3_HUMAN		13	1776	-			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	1	1	hg19	c.1722G>A	CCDS11041.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.328172	1	0.170000	NM_174953			123	123		601	595	1		1	1		0	0	131	0		1	1	0	28	0	146	0	123	601
ATP2A3	489	broad.mit.edu	37	17	3854899	3854899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000352011.3	-	4	354	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	100					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)			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)		CAATGGCGTTGGCCACGAGGA	0.687																																					GBM(32;29 774 15719 37967)	ENST00000352011.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				36						c.(298-300)gcC>gcT		ATPase, Ca++ transporting, ubiquitous							38.0	28.0	32.0					17																	3854899		2200	4299	6499	SO:0001819	synonymous_variant	489	0	0					g.chr17:3854899G>A		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.300C>T	chr17.hg19:g.3854899G>A		0					ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A|ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR	p.A100A			1	2	3	2.017774	Q93084	AT2A3_HUMAN		4	354	-			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	0	1	hg19	c.300C>T	CCDS11041.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_174953			19	19		81	78	0		1	1		0	0	9	0		9.999939e-01	9.999998e-01	0	25	0	109	0	19	81
CDC6	990	broad.mit.edu	37	17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	7					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403																																						ENST00000209728.4	1.000000	0.730000	1	8.800000e-01	0.990000	0.958468	0.990000	1.000000																										0				21						c.(19-21)caG>caT		cell division cycle 6							77.0	77.0	77.0					17																	38445693		2203	4300	6503	SO:0001583	missense	990	0	0					g.chr17:38445693G>T	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.21G>T	chr17.hg19:g.38445693G>T	ENSP00000209728:p.Gln7His	0						p.Q7H	NM_001254.3	NP_001245.1	1	2	3	2.015275	Q99741	CDC6_HUMAN		2	492	+			Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	1	1	hg19	c.21G>T	CCDS11365.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256689	0.80246	.	.	ENSG00000094804	ENST00000209728	T	0.59083	0.29	4.72	2.68	0.31781	4.72	2.68	0.31781	.	0.129524	0.53938	D	0.000050	T	0.67933	0.2946	M	0.71581	2.175	0.39861	D	0.973386	D	0.67145	0.996	P	0.61328	0.887	T	0.69285	-0.5185	10	0.39692	T	0.17	-22.1046	10.5158	0.44889	0.1665:0.0:0.8335:0.0	.	7	Q99741	CDC6_HUMAN	H	7	ENSP00000209728:Q7H	ENSP00000209728:Q7H	Q	+	3	2	2	CDC6	35699219	35699219	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	3.099000	0.50267	1.212000	0.43366	0.557000	0.71058	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.318794	1	0.170000				30	28		312	306	0		1	1		0	0	61	0		1	6.809221e-01	0	2	0	24	0	30	312
IGFBP4	3487	broad.mit.edu	37	17	38610230	38610230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	186	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642																																					GBM(160;940 3581 26177)	ENST00000269593.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(556-558)gcC>gcT		insulin-like growth factor binding protein 4							67.0	67.0	67.0					17																	38610230		2203	4300	6503	SO:0001819	synonymous_variant	3487	0	0					g.chr17:38610230C>T	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.558C>T	chr17.hg19:g.38610230C>T		0					IGFBP4_ENST00000542955.1_Silent_p.A86A	p.A186A	NM_001552.2	NP_001543.2	1	2	3	2.015275	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)	3	833	+		Breast(137;0.000496)	A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	1	1	hg19	c.558C>T	CCDS11367.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	1	0	1		2	2	2	0		0	0	90		90	84	1	2.060000	-3.018374	1	0.170000	NM_001552			93	91		517	509	1		1	1		0	0	90	0		1	1	0	8	0	381	0	93	517
CCR7	1236	broad.mit.edu	37	17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	rs141181444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					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)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		22267	0.0		0.001	False		,,,				2504	0.0					ENST00000246657.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				8						c.(619-621)gCg>gTg		chemokine (C-C motif) receptor 7							73.0	63.0	66.0					17																	38711511		2203	4300	6503	SO:0001583	missense	1236	1	121412	28				g.chr17:38711511G>A		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.620C>T	chr17.hg19:g.38711511G>A	ENSP00000246657:p.Ala207Val	0					CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	p.A207V	NM_001838.3	NP_001829.1	1	2	3	2.015275	P32248	CCR7_HUMAN		3	682	-		Breast(137;0.000496)		Missense_Mutation	SNP	ENST00000246657.2	1	1	hg19	c.620C>T	CCDS11369.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.122	-0.655134	0.03480	.	.	ENSG00000126353	ENST00000246657	T	0.36157	1.27	4.45	2.47	0.30058	4.45	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	2.531820	0.01360	N	0.012206	T	0.13970	0.0338	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	7.2012	0.25881	0.1594:0.0:0.6936:0.147	.	207	P32248	CCR7_HUMAN	V	207	ENSP00000246657:A207V	ENSP00000246657:A207V	A	-	2	0	0	CCR7	35965037	35965037	0.006000	0.16342	0.001000	0.08648	0.204000	0.24138	1.560000	0.36331	0.820000	0.34516	0.561000	0.74099	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-17.972530	1	0.170000				30	30		144	140	1		1	0		0	0	40	0		1	6.427279e-01	0	0	0	12	0	30	144
KRT25	147183	broad.mit.edu	37	17	38910676	38910676	+	Silent	SNP	G	G	A	rs146092638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20520	0.0		0.0	False		,,,				2504	0.0					ENST00000312150.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(472-474)atC>atT		keratin 25							137.0	130.0	133.0					17																	38910676		2203	4300	6503	SO:0001819	synonymous_variant	147183	28	121412	49				g.chr17:38910676G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.474C>T	chr17.hg19:g.38910676G>A		0						p.I158I	NM_181534.3	NP_853512.1	1	2	3	2.015275				2	534	-		Breast(137;0.00526)		Silent	SNP	ENST00000312150.4	1	1	hg19	c.474C>T	CCDS11373.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_181534			81	80		334	322	1		1			0	0	86	0		1	0	0	0	0	0	0	81	334
KRT27	342574	broad.mit.edu	37	17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557																																						ENST00000301656.3	1.000000	0.870000	1	9.600000e-01	0.990000	0.986410	0.990000	1.000000																										0				21						c.(1102-1104)aaG>aaT		keratin 27							154.0	154.0	154.0					17																	38933853		2203	4300	6503	SO:0001583	missense	342574	0	0					g.chr17:38933853C>A	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.1104G>T	chr17.hg19:g.38933853C>A	ENSP00000301656:p.Lys368Asn	0					KRT27_ENST00000540723.1_5'UTR	p.K368N	NM_181537.3	NP_853515.2	1	2	3	2.015275				6	1144	-		Breast(137;0.000812)		Missense_Mutation	SNP	ENST00000301656.3	1	1	hg19	c.1104G>T	CCDS11375.1	1	.	.	.	.	.	.	.	.	.	.	C	1.307	-0.603277	0.03744	.	.	ENSG00000171446	ENST00000301656	D	0.88046	-2.33	5.56	-6.61	0.01818	5.56	-6.61	0.01818	Filament (1);	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	N	0.03000	-0.44	0.09310	N	0.999994	B	0.22080	0.064	B	0.26614	0.071	T	0.58951	-0.7545	10	0.02654	T	1	.	13.8548	0.63519	0.0:0.615:0.136:0.2491	.	368	Q7Z3Y8	K1C27_HUMAN	N	368	ENSP00000301656:K368N	ENSP00000301656:K368N	K	-	3	2	2	KRT27	36187379	36187379	0.000000	0.05858	0.846000	0.33378	0.839000	0.47603	-2.826000	0.00746	-1.254000	0.02485	-0.145000	0.13849	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	1	0	1		2	2	2	0		0	0	217		217	216	1	2.060000	-19.999980	1	0.170000	NM_181537			101	101		1030	1012	0		1	0		0	0	217	0		1	0	0	0	0	1	0	101	1030
KRT28	162605	broad.mit.edu	37	17	38949454	38949454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38949454G>A	ENST00000306658.7	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTTTGATTTGGAGCATGAACT	0.284																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7	1.000000	0.970000	1	9.900000e-01	0.990000	0.996601	0.990000	1.000000																										0				30						c.(1204-1206)tCc>tTc		keratin 28							25.0	26.0	25.0					17																	38949454		2196	4299	6495	SO:0001583	missense	162605	0	0					g.chr17:38949454G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1205C>T	chr17.hg19:g.38949454G>A	ENSP00000305263:p.Ser402Phe	0						p.S402F	NM_181535.3	NP_853513.2	1	2	3	2.015275				7	1270	-		Breast(137;0.000301)		Missense_Mutation	SNP	ENST00000306658.7	0	1	hg19	c.1205C>T	CCDS11376.1	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929205	0.34096	.	.	ENSG00000173908	ENST00000306658	D	0.83673	-1.75	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.222774	0.32231	N	0.006397	T	0.66208	0.2766	N	0.08118	0	0.36858	D	0.888237	B	0.06786	0.001	B	0.09377	0.004	T	0.64123	-0.6481	10	0.12103	T	0.63	.	14.4247	0.67207	0.0:0.0:1.0:0.0	.	402	Q7Z3Y7	K1C28_HUMAN	F	402	ENSP00000305263:S402F	ENSP00000305263:S402F	S	-	2	0	0	KRT28	36202980	36202980	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.153000	0.50685	2.777000	0.95525	0.655000	0.94253	TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-8.802611	1	0.170000	NM_181535			10	10		51	49	1		1			0	0	13	0		9.972531e-01	0	0	0	0	0	0	10	51
KRT12	3859	broad.mit.edu	37	17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	379	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			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)	GCGCAGTAATCGCCCTCGGCT	0.607																																						ENST00000251643.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998203	0.990000	1.000000																										0				15						c.(1135-1137)Gat>Aat		keratin 12	Griseofulvin(DB00400)						21.0	19.0	20.0					17																	39019556		2200	4290	6490	SO:0001583	missense	3859	0	0					g.chr17:39019556C>T		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.1135G>A	chr17.hg19:g.39019556C>T	ENSP00000251643:p.Asp379Asn	0					RP5-1110E20.1_ENST00000579136.1_RNA	p.D379N	NM_000223.3	NP_000214.1	1	2	3	2.015275	Q99456	K1C12_HUMAN		6	1158	-		Breast(137;0.000301)	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	1	1	hg19	c.1135G>A	CCDS11378.1	1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805382	0.16467	.	.	ENSG00000187242	ENST00000251643	D	0.88509	-2.39	5.05	4.06	0.47325	5.05	4.06	0.47325	Filament (1);	0.524332	0.17399	N	0.175640	T	0.70745	0.3259	N	0.02412	-0.56	0.09310	N	1	P	0.36249	0.545	B	0.24701	0.055	T	0.60203	-0.7309	10	0.21014	T	0.42	.	14.833	0.70162	0.0:0.5953:0.4047:0.0	.	379	Q99456	K1C12_HUMAN	N	379	ENSP00000251643:D379N	ENSP00000251643:D379N	D	-	1	0	0	KRT12	36273082	36273082	0.006000	0.16342	0.348000	0.25681	0.961000	0.63080	0.930000	0.28858	1.328000	0.45358	0.491000	0.48974	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_000223			20	19		131	128	1		1			0	0	33	0		9.999961e-01	0	0	0	0	0	0	20	131
KRT12	3859	broad.mit.edu	37	17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	162	Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			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)	TTCCTCGTGTTTCATACCATT	0.403																																						ENST00000251643.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(484-486)gaA>gaT		keratin 12	Griseofulvin(DB00400)						126.0	126.0	126.0					17																	39022953		2203	4300	6503	SO:0001583	missense	3859	0	0					g.chr17:39022953T>A		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.486A>T	chr17.hg19:g.39022953T>A	ENSP00000251643:p.Glu162Asp	0						p.E162D	NM_000223.3	NP_000214.1	1	2	3	2.015275	Q99456	K1C12_HUMAN		1	509	-		Breast(137;0.000301)	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	1	1	hg19	c.486A>T	CCDS11378.1	1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931852	0.52866	.	.	ENSG00000187242	ENST00000251643	D	0.89746	-2.56	5.91	4.83	0.62350	5.91	4.83	0.62350	Filament (1);	0.000000	0.52532	D	0.000069	D	0.82815	0.5119	L	0.38175	1.15	0.37705	D	0.924361	P	0.36974	0.576	B	0.37239	0.244	T	0.82236	-0.0557	10	0.45353	T	0.12	.	8.9766	0.35939	0.0:0.2028:0.0:0.7972	.	162	Q99456	K1C12_HUMAN	D	162	ENSP00000251643:E162D	ENSP00000251643:E162D	E	-	3	2	2	KRT12	36276479	36276479	0.024000	0.19004	0.764000	0.31436	0.882000	0.50991	0.610000	0.24253	1.054000	0.40438	-0.274000	0.10170	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_000223			151	149		632	618	1		1			0	0	121	0		1	0	0	0	0	0	0	151	632
KRT20	54474	broad.mit.edu	37	17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	151	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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378																																						ENST00000167588.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(451-453)Gct>Act		keratin 20							123.0	112.0	116.0					17																	39038846		2203	4300	6503	SO:0001583	missense	54474	0	0					g.chr17:39038846C>T	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.451G>A	chr17.hg19:g.39038846C>T	ENSP00000167588:p.Ala151Thr	0						p.A151T	NM_019010.2	NP_061883.1	1	2	3	2.015275	P35900	K1C20_HUMAN		2	492	-		Breast(137;0.000301)|Ovarian(249;0.15)	B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	1	1	hg19	c.451G>A	CCDS11379.1	1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812948	0.70912	.	.	ENSG00000171431	ENST00000167588	D	0.89270	-2.49	5.33	2.25	0.28309	5.33	2.25	0.28309	Filament (1);	0.101974	0.42682	D	0.000662	D	0.87374	0.6161	L	0.59912	1.85	0.38839	D	0.956026	P	0.34934	0.476	B	0.42138	0.377	D	0.86327	0.1696	10	0.42905	T	0.14	.	10.4064	0.44260	0.0:0.7883:0.0:0.2117	.	151	P35900	K1C20_HUMAN	T	151	ENSP00000167588:A151T	ENSP00000167588:A151T	A	-	1	0	0	KRT20	36292372	36292372	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.484000	0.53201	1.245000	0.43885	0.557000	0.71058	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				82	80		357	356	1		1			0	0	85	0		1	0	0	0	0	0	0	82	357
ZZEF1	23140	broad.mit.edu	37	17	3912991	3912991	+	Silent	SNP	G	G	A	rs373997187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2880							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						CAAACAGGCCGTACTCCATGT	0.612																																						ENST00000381638.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(8638-8640)taC>taT		zinc finger, ZZ-type with EF-hand domain 1		G		0,4406		0,0,2203	87.0	72.0	77.0		8640	0.2	1.0	17		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2880/2962	3912991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23140	3	121410	31				g.chr17:3912991G>A	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.8640C>T	chr17.hg19:g.3912991G>A		0						p.Y2880Y	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		53	8764	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	1	1	hg19	c.8640C>T	CCDS11043.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1		2	2	2	0		0	0	40		40	37	1	2.060000	-20.000000	1	0.170000	NM_015113			48	47		174	172	1		1	1		0	0	40	0		1	9.999954e-01	0	18	0	53	0	48	174
KRT39	390792	broad.mit.edu	37	17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	66	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527																																						ENST00000355612.2	1.000000	0.700000	1	7.900000e-01	0.890000	0.893266	0.890000	1.000000																										0				17						c.(196-198)tGt>tAt		keratin 39							194.0	195.0	195.0					17																	39122912		2203	4296	6499	SO:0001583	missense	390792	0	0					g.chr17:39122912C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.197G>A	chr17.hg19:g.39122912C>T	ENSP00000347823:p.Cys66Tyr	0					AC004231.2_ENST00000418393.1_RNA	p.C66Y	NM_213656.3	NP_998821.3	1	2	3	2.015275	Q6A163	K1C39_HUMAN		1	232	-		Breast(137;0.00043)|Ovarian(249;0.15)	B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	1	1	hg19	c.197G>A	CCDS11382.1	1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765290	0.15914	.	.	ENSG00000196859	ENST00000355612	D	0.83755	-1.76	5.75	-2.35	0.06684	5.75	-2.35	0.06684	.	0.469201	0.18379	N	0.143013	T	0.56761	0.2007	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.44251	-0.9340	10	0.41790	T	0.15	.	1.8678	0.03202	0.1305:0.3436:0.1291:0.3967	.	66	Q6A163	K1C39_HUMAN	Y	66	ENSP00000347823:C66Y	ENSP00000347823:C66Y	C	-	2	0	0	KRT39	36376438	36376438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.196000	0.10366	-0.142000	0.14014	TGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-15.246080	1	0.170000	NM_213656			76	74		947	933	0		1			0	0	172	0		1	0	0	0	0	0	0	76	947
ZZEF1	23140	broad.mit.edu	37	17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2846							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						TAAGTGGATGGCTTTTAATCG	0.552																																						ENST00000381638.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(8536-8538)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							78.0	67.0	71.0					17																	3916785		2203	4300	6503	SO:0001583	missense	23140	0	0					g.chr17:3916785G>A	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.8537C>T	chr17.hg19:g.3916785G>A	ENSP00000371051:p.Ala2846Val	0						p.A2846V	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		52	8661	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	1	1	hg19	c.8537C>T	CCDS11043.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.832956	0.97003	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.42498	-0.9448	10	0.87932	D	0	-15.2664	20.3214	0.98679	0.0:0.0:1.0:0.0	.	2846	O43149	ZZEF1_HUMAN	V	2846	ENSP00000371051:A2846V	ENSP00000371051:A2846V	A	-	2	0	0	ZZEF1	3863534	3863534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.804000	0.96469	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_015113			66	65		253	252	1		1	1		0	0	62	0		1	9.999020e-01	0	15	0	40	0	66	253
KRT40	125115	broad.mit.edu	37	17	39137307	39137307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39137307G>A	ENST00000398486.2	-	6	944	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	KRT40_ENST00000377755.4_Missense_Mutation_p.R262C	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	262	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CACTGACAGCGCATCTCATCC	0.527																																						ENST00000398486.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(784-786)Cgc>Tgc		keratin 40							163.0	170.0	167.0					17																	39137307		2058	4214	6272	SO:0001583	missense	125115	4	121026	42				g.chr17:39137307G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.784C>T	chr17.hg19:g.39137307G>A	ENSP00000381500:p.Arg262Cys	0					KRT40_ENST00000377755.4_Missense_Mutation_p.R262C	p.R262C	NM_182497.3	NP_872303.2	1	2	3	2.015275	Q6A162	K1C40_HUMAN		6	944	-		Breast(137;0.00043)	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	1	0	hg19	c.784C>T	CCDS42320.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297020	0.81025	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.93426	-3.22;-3.22	5.4	4.37	0.52481	5.4	4.37	0.52481	Filament (1);	0.000000	0.33092	N	0.005282	D	0.98055	0.9359	H	0.99211	4.47	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	12.4322	0.55581	0.0:0.0:0.7146:0.2854	.	262	Q6A162	K1C40_HUMAN	C	262	ENSP00000366984:R262C;ENSP00000381500:R262C	ENSP00000366984:R262C	R	-	1	0	0	KRT40	36390833	36390833	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.085000	0.30840	2.688000	0.91661	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	0	0	1		19	2	2	1		1	1	164		164	164	1	2.060000	-20.000000	1	0.170000	NM_182497			173	173		753	745	1		1			1	0	164	0		1	0	0	0	0	0	0	173	753
KRTAP4-5	85289	broad.mit.edu	37	17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	98	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662																																						ENST00000343246.4	1.000000	0.180000	5.800000e-01	2.700000e-01	0.380000	0.446708	0.380000	0.350000																										0				6						c.(292-294)cCc>cTc		keratin associated protein 4-5							20.0	25.0	23.0					17																	39305727		2170	4246	6416	SO:0001583	missense	85289	0	0					g.chr17:39305727G>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.293C>T	chr17.hg19:g.39305727G>A	ENSP00000340546:p.Pro98Leu	0						p.P98L	NM_033188.3	NP_149445.3	1	2	3	2.015275	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)	1	327	-		Breast(137;0.000496)		Missense_Mutation	SNP	ENST00000343246.4	1	1	hg19	c.293C>T	CCDS32650.1	0	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941052	0.53079	.	.	ENSG00000198271	ENST00000343246	T	0.02216	4.39	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.729752	0.11113	U	0.598308	T	0.13500	0.0327	M	0.92367	3.3	0.22034	N	0.999404	P	0.48089	0.905	P	0.52823	0.71	T	0.04664	-1.0935	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.0:1.0:0.0	.	103	Q9BYR2	KRA45_HUMAN	L	98	ENSP00000340546:P98L	ENSP00000340546:P98L	P	-	2	0	0	KRTAP4-5	36559253	36559253	0.994000	0.37717	0.084000	0.20598	0.608000	0.37181	2.373000	0.44266	2.243000	0.73865	0.561000	0.74099	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1	0	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-3.552823	1	0.170000				9	9		291	269	0		1			0	0	64	0		9.921114e-01	0	0	0	0	0	0	9	291
KRTAP4-5	85289	broad.mit.edu	37	17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	52	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672																																						ENST00000343246.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(154-156)caG>caT		keratin associated protein 4-5							23.0	26.0	25.0					17																	39305864		2180	4267	6447	SO:0001583	missense	85289	0	0					g.chr17:39305864C>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.156G>T	chr17.hg19:g.39305864C>A	ENSP00000340546:p.Gln52His	0						p.Q52H	NM_033188.3	NP_149445.3	1	2	3	2.015275	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)	1	190	-		Breast(137;0.000496)		Missense_Mutation	SNP	ENST00000343246.4	1	1	hg19	c.156G>T	CCDS32650.1	1	.	.	.	.	.	.	.	.	.	.	.	7.649	0.682408	0.14907	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	4.12	2.03	0.26663	4.12	2.03	0.26663	.	0.609345	0.11953	U	0.513531	T	0.02047	0.0064	M	0.77406	2.37	0.09310	N	0.999999	D	0.65815	0.995	D	0.68353	0.957	T	0.45145	-0.9281	10	0.52906	T	0.07	.	6.334	0.21287	0.1868:0.7083:0.0:0.1048	.	52	Q9BYR2	KRA45_HUMAN	H	52	ENSP00000340546:Q52H	ENSP00000340546:Q52H	Q	-	3	2	2	KRTAP4-5	36559390	36559390	0.000000	0.05858	0.684000	0.30055	0.120000	0.20174	-0.593000	0.05740	0.987000	0.38709	0.655000	0.94253	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000				62	57		269	244	1		1			0	0	52	0		1	0	0	0	0	0	0	62	269
KRTAP17-1	83902	broad.mit.edu	37	17	39471738	39471738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	ENST00000334202.3	-	1	209	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	55						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaagacgatccgcagc	0.706																																						ENST00000334202.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999673	0.990000	1.000000																										0				2						c.(163-165)tcG>tcA		keratin associated protein 17-1							17.0	24.0	22.0					17																	39471738		2187	4273	6460	SO:0001819	synonymous_variant	83902	5	120554	35				g.chr17:39471738C>T	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.165G>A	chr17.hg19:g.39471738C>T		0						p.S55S	NM_031964.1	NP_114170.1	1	2	3	2.015275	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)	1	209	-		Breast(137;0.000496)		Silent	SNP	ENST00000334202.3	0	1	hg19	c.165G>A	CCDS11387.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000				16	16		75	71	1		1			0	0	10	0		9.999440e-01	0	0	0	0	0	0	16	75
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3	1.000000	0.760000	1	9.200000e-01	0.990000	0.970141	0.990000	1.000000																										0				21						c.(742-744)Gcc>Acc		keratin 33A							65.0	59.0	61.0					17																	39503321		2203	4296	6499	SO:0001583	missense	3883	10	121408	39				g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	chr17.hg19:g.39503321C>T	ENSP00000007735:p.Ala248Thr	0						p.A248T	NM_004138.3	NP_004129.2	1	2	3	2.015275	O76009	KT33A_HUMAN		4	786	-		Breast(137;0.000496)	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	0	1	hg19	c.742G>A	CCDS11388.1	1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	0	KRT33A	36756847	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	1	0	1		2	2	2	0		0	0	55		55	78	1	2.060000	-20.000000	1	0.170000	NM_004138			29	22		287	257	0		1			0	0	55	0		1	0	0	0	0	0	0	29	287
KRT31	3881	broad.mit.edu	37	17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	294	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			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)				TCCAGAGAGTCTCGCTGTGGT	0.547																																						ENST00000251645.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(880-882)Gac>Aac		keratin 31							50.0	49.0	49.0					17																	39551317		2203	4300	6503	SO:0001583	missense	3881	0	0					g.chr17:39551317C>T	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.880G>A	chr17.hg19:g.39551317C>T	ENSP00000251645:p.Asp294Asn	0						p.D294N	NM_002277.2	NP_002268.2	1	2	3	2.015275	Q15323	K1H1_HUMAN		6	932	-		Breast(137;0.000496)	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	1	1	hg19	c.880G>A	CCDS11391.1	1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057790	0.19907	.	.	ENSG00000094796	ENST00000251645	D	0.89123	-2.47	5.62	-0.748	0.11087	5.62	-0.748	0.11087	Filament (1);	0.271361	0.32671	N	0.005792	T	0.77452	0.4132	N	0.25144	0.715	0.21355	N	0.999718	B	0.02656	0.0	B	0.04013	0.001	T	0.62172	-0.6910	10	0.24483	T	0.36	.	9.9863	0.41843	0.0:0.3794:0.0:0.6206	.	294	Q15323	K1H1_HUMAN	N	294	ENSP00000251645:D294N	ENSP00000251645:D294N	D	-	1	0	0	KRT31	36804843	36804843	0.000000	0.05858	0.865000	0.33974	0.439000	0.31926	-0.763000	0.04740	0.100000	0.17581	-0.355000	0.07637	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_002277			52	52		214	207	1		1			0	0	48	0		1	0	0	0	0	0	0	52	214
KRT38	8687	broad.mit.edu	37	17	39593734	39593734	+	Missense_Mutation	SNP	C	C	T	rs140093590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39593734C>T	ENST00000246646.3	-	7	1300	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	434	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACAGCTTGGGCGAGGAGCACA	0.627																																						ENST00000246646.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				29						c.(1300-1302)cGc>cAc		keratin 38		C	HIS/ARG	1,4405		0,1,2202	30.0	27.0	28.0		1301	2.3	0.1	17	dbSNP_134	28	2,8598		0,2,4298	yes	missense	KRT38	NM_006771.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	434/457	39593734	3,13003	2203	4300	6503	SO:0001583	missense	8687	22	121388	41				g.chr17:39593734C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1301G>A	chr17.hg19:g.39593734C>T	ENSP00000246646:p.Arg434His	0						p.R434H	NM_006771.3	NP_006762.3	1	2	3	2.015275	O76015	KRT38_HUMAN		7	1300	-		Breast(137;0.000496)	A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	1	0	hg19	c.1301G>A	CCDS11392.1	1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436051	0.25813	2.27E-4	2.33E-4	ENSG00000171360	ENST00000246646	D	0.81996	-1.56	2.26	2.26	0.28386	2.26	2.26	0.28386	.	0.524430	0.16004	N	0.234168	T	0.65333	0.2681	N	0.08118	0	0.09310	N	1	P	0.39551	0.678	B	0.39258	0.295	T	0.58607	-0.7607	10	0.45353	T	0.12	.	8.0817	0.30748	0.0:1.0:0.0:0.0	.	434	O76015	KRT38_HUMAN	H	434	ENSP00000246646:R434H	ENSP00000246646:R434H	R	-	2	0	0	KRT38	36847260	36847260	0.000000	0.05858	0.137000	0.22149	0.008000	0.06430	-0.087000	0.11215	1.606000	0.50161	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_006771			17	17		67	64	1		1			0	0	11	0		9.999762e-01	0	0	0	0	0	0	17	67
KRT38	8687	broad.mit.edu	37	17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	277	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582																																						ENST00000246646.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(829-831)Cgg>Tgg		keratin 38							142.0	136.0	138.0					17																	39595014		2203	4300	6503	SO:0001583	missense	8687	0	0					g.chr17:39595014G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.829C>T	chr17.hg19:g.39595014G>A	ENSP00000246646:p.Arg277Trp	0						p.R277W	NM_006771.3	NP_006762.3	1	2	3	2.015275	O76015	KRT38_HUMAN		4	828	-		Breast(137;0.000496)	A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	1	1	hg19	c.829C>T	CCDS11392.1	1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946566	0.34377	.	.	ENSG00000171360	ENST00000246646	D	0.93488	-3.23	4.27	-4.06	0.03986	4.27	-4.06	0.03986	Filament (1);	0.000000	0.44902	D	0.000401	D	0.92028	0.7474	M	0.92077	3.27	0.37369	D	0.911553	P	0.38767	0.646	B	0.35510	0.204	D	0.87499	0.2432	10	0.87932	D	0	.	8.7404	0.34554	0.1057:0.0:0.2405:0.6538	.	277	O76015	KRT38_HUMAN	W	277	ENSP00000246646:R277W	ENSP00000246646:R277W	R	-	1	2	2	KRT38	36848540	36848540	0.000000	0.05858	0.927000	0.36925	0.624000	0.37722	-1.242000	0.02908	-0.355000	0.08199	-0.410000	0.06199	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	0	0	1		13	2	2	1		1	1	189		189	185	1	2.060000	-3.302645	1	0.170000	NM_006771			120	119		507	492	1		1			1	0	189	0		1	0	0	0	0	0	0	120	507
ZZEF1	23140	broad.mit.edu	37	17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1620							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						TGACAGGTCAGAAGTTCCAAC	0.428																																						ENST00000381638.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				84						c.(4858-4860)Ctg>Atg		zinc finger, ZZ-type with EF-hand domain 1							43.0	42.0	42.0					17																	3966072		2203	4300	6503	SO:0001583	missense	23140	0	0					g.chr17:3966072G>T	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.4858C>A	chr17.hg19:g.3966072G>T	ENSP00000371051:p.Leu1620Met	0						p.L1620M	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		30	4982	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	1	1	hg19	c.4858C>A	CCDS11043.1	1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000074755	ENST00000381638	T	0.49139	0.79	5.66	3.68	0.42216	5.66	3.68	0.42216	.	0.101413	0.48767	D	0.000168	T	0.63873	0.2548	M	0.64997	1.995	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65537	-0.6144	10	0.87932	D	0	-8.7289	11.9053	0.52708	0.1393:0.0:0.8607:0.0	.	1620;1620	O43149-2;O43149	.;ZZEF1_HUMAN	M	1620	ENSP00000371051:L1620M	ENSP00000371051:L1620M	L	-	1	2	2	ZZEF1	3912821	3912821	1.000000	0.71417	0.525000	0.27900	0.979000	0.70002	5.109000	0.64615	0.759000	0.33084	0.650000	0.86243	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_015113			19	19		72	72	1		1	1		0	0	13	0		9.999959e-01	9.970794e-01	0	9	0	31	0	19	72
KRT32	3882	broad.mit.edu	37	17	39620565	39620565	+	Missense_Mutation	SNP	C	C	T	rs72830046	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39620565C>T	ENST00000225899.3	-	4	942	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	280	Coil 2.|Rod.		R -> H (in dbSNP:rs72830046).		epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CACGTCCCTGCGGTTGGCCTC	0.622													C|||	899	0.179513	0.0431	0.196	5008	,	,		20629	0.1141		0.2724	False		,,,				2504	0.3241					ENST00000225899.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(838-840)cGc>cAc		keratin 32		C	HIS/ARG	357,4049	186.0+/-213.0	19,319,1865	146.0	102.0	117.0		839	-2.7	0.9	17	dbSNP_130	117	2610,5990	423.8+/-354.5	384,1842,2074	yes	missense	KRT32	NM_002278.3	29	403,2161,3939	TT,TC,CC		30.3488,8.1026,22.8125	benign	280/449	39620565	2967,10039	2203	4300	6503	SO:0001583	missense	3882	30767	121396	76				g.chr17:39620565C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.839G>A	chr17.hg19:g.39620565C>T	ENSP00000225899:p.Arg280His	0						p.R280H	NM_002278.3	NP_002269.3	1	2	3	2.015275	Q14532	K1H2_HUMAN		4	942	-		Breast(137;0.000812)		Missense_Mutation	SNP	ENST00000225899.3	1	0	hg19	c.839G>A	CCDS11393.1	1	365	0.1671245421245421	24	0.04878048780487805	85	0.23480662983425415	59	0.10314685314685315	197	0.2598944591029024	C	16.42	3.117464	0.56505	0.081026	0.303488	ENSG00000108759	ENST00000225899	D	0.90004	-2.6	5.22	-2.66	0.06077	5.22	-2.66	0.06077	Filament (1);	0.678601	0.12184	N	0.491809	T	0.00039	0.0001	M	0.84156	2.68	0.48185	P	3.9800000000000946E-4	B	0.28258	0.205	B	0.34301	0.179	T	0.35699	-0.9778	9	0.56958	D	0.05	.	4.826	0.13416	0.2652:0.4725:0.0:0.2623	.	280	Q14532	K1H2_HUMAN	H	280	ENSP00000225899:R280H	ENSP00000225899:R280H	R	-	2	0	0	KRT32	36874091	36874091	0.000000	0.05858	0.896000	0.35187	0.991000	0.79684	-0.526000	0.06207	-0.710000	0.05001	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	0	0	1		14	2	2	1		1	1	73		73	73	1	2.060000	-0.602595	0	0.170000	NM_002278			57	57		227	221	1		1	0		1	0	73	0		1	0	0	0	0	1	0	57	227
KRT15	3866	broad.mit.edu	37	17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	356	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597																																						ENST00000254043.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1066-1068)cGc>cAc		keratin 15							67.0	60.0	62.0					17																	39671904		2203	4300	6503	SO:0001583	missense	3866	1	121412	33				g.chr17:39671904C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1067G>A	chr17.hg19:g.39671904C>T	ENSP00000254043:p.Arg356His	0					KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	p.R356H	NM_002275.3	NP_002266	1	2	3	2.015275	P19012	K1C15_HUMAN		6	4652	-		Breast(137;0.000286)	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	1	1	hg19	c.1067G>A	CCDS11398.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624215	0.87560	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	4.74	4.74	0.60224	4.74	4.74	0.60224	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95277	0.8468	M	0.85945	2.785	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.97110	1.0;0.749;0.749	D	0.95576	0.8642	10	0.72032	D	0.01	.	13.3192	0.60424	0.0:0.9218:0.0:0.0782	.	191;356;356	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	356;191;356;191;191	ENSP00000254043:R356H;ENSP00000377544:R191H;ENSP00000377546:R356H;ENSP00000377550:R191H;ENSP00000409282:R191H	ENSP00000254043:R356H	R	-	2	0	0	KRT15	36925430	36925430	0.636000	0.27207	1.000000	0.80357	0.966000	0.64601	3.180000	0.50895	2.447000	0.82792	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_002275			71	71		315	310	1		1	1		0	0	84	0		1	9.999996e-01	0	65	0	33	0	71	315
KRT15	3866	broad.mit.edu	37	17	39674821	39674821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	ENST00000254043.3	-	1	3844	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	87	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ccaaaacccccaccaacgccc	0.577																																						ENST00000254043.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(259-261)Ggg>Tgg		keratin 15							280.0	270.0	273.0					17																	39674821		2203	4300	6503	SO:0001583	missense	3866	0	0					g.chr17:39674821C>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.259G>T	chr17.hg19:g.39674821C>A	ENSP00000254043:p.Gly87Trp	0					KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	p.G87W	NM_002275.3	NP_002266	1	2	3	2.015275	P19012	K1C15_HUMAN		1	3844	-		Breast(137;0.000286)	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	1	0	hg19	c.259G>T	CCDS11398.1	1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623418	0.14193	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86562	-2.14;-2.14	4.27	4.27	0.50696	4.27	4.27	0.50696	.	0.000000	0.40640	N	0.001046	D	0.91106	0.7200	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.90334	0.4354	10	0.38643	T	0.18	.	15.9817	0.80114	0.0:1.0:0.0:0.0	.	87	P19012	K1C15_HUMAN	W	87	ENSP00000254043:G87W;ENSP00000377546:G87W	ENSP00000254043:G87W	G	-	1	0	0	KRT15	36928347	36928347	0.007000	0.16637	0.669000	0.29828	0.037000	0.13140	0.834000	0.27518	2.393000	0.81446	0.511000	0.50034	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	1	0	1		2	2	2	0		0	0	118		118	114	1	2.060000	-3.760614	1	0.170000	NM_002275			158	147		555	514	1		1	0		0	0	118	0		1	4.955471e-02	0	1	0	1	0	158	555
ZZEF1	23140	broad.mit.edu	37	17	3968016	3968016	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968016G>T	ENST00000381638.2	-	29	4481	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1453							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						AGTGGCTGGAGATGACTGGTT	0.493																																						ENST00000381638.2	1.000000	0.110000	3.500000e-01	1.600000e-01	0.230000	0.312913	0.230000	0.210000																										0				84						c.(4357-4359)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							70.0	65.0	67.0					17																	3968016		2203	4300	6503	SO:0001583	missense	23140	0	0					g.chr17:3968016G>T	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.4357C>A	chr17.hg19:g.3968016G>T	ENSP00000371051:p.Leu1453Ile	0						p.L1453I	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		29	4481	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	0	1	hg19	c.4357C>A	CCDS11043.1	0	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021966	0.35701	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.607547	0.16222	N	0.223984	T	0.24236	0.0587	L	0.47716	1.5	0.43588	D	0.99593	B;P	0.42827	0.4;0.791	B;B	0.38378	0.11;0.272	T	0.03443	-1.1036	10	0.48119	T	0.1	-2.2679	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1453;1453	O43149-2;O43149	.;ZZEF1_HUMAN	I	1453	ENSP00000371051:L1453I	ENSP00000371051:L1453I	L	-	1	0	0	ZZEF1	3914765	3914765	0.998000	0.40836	0.836000	0.33094	0.146000	0.21551	5.445000	0.66594	2.607000	0.88179	0.591000	0.81541	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-8.106453	1	0.170000	NM_015113			10	10		545	532	0		1	0		0	0	83	0		9.965351e-01	1.414227e-01	0	0	0	33	0	10	545
ZZEF1	23140	broad.mit.edu	37	17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1432							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						TATGCCCGTGGGCAGAAATTT	0.393																																						ENST00000381638.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(4294-4296)cCc>cTc		zinc finger, ZZ-type with EF-hand domain 1							53.0	59.0	57.0					17																	3968078		2199	4291	6490	SO:0001583	missense	23140	0	0					g.chr17:3968078G>A	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.4295C>T	chr17.hg19:g.3968078G>A	ENSP00000371051:p.Pro1432Leu	0						p.P1432L	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		29	4419	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	1	1	hg19	c.4295C>T	CCDS11043.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384916	0.82792	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.183743	0.47852	D	0.000205	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	D;P	0.57257	0.979;0.905	P;B	0.59643	0.861;0.403	T	0.44682	-0.9312	10	0.87932	D	0	-10.902	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1432;1432	O43149-2;O43149	.;ZZEF1_HUMAN	L	1432	ENSP00000371051:P1432L	ENSP00000371051:P1432L	P	-	2	0	0	ZZEF1	3914827	3914827	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	8.049000	0.89443	2.607000	0.88179	0.591000	0.81541	CCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_015113			118	117		488	477	1		1	1		0	0	81	0		1	9.606937e-01	0	4	0	20	0	118	488
KRT15	3866	broad.mit.edu	37	17	39675024	39675024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39675024C>T	ENST00000254043.3	-	1	3641	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	19	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGAACCCCCTCGGGTTGAGCC	0.582																																						ENST00000254043.3	1.000000	0.170000	4.000000e-01	2.200000e-01	0.290000	0.364075	0.290000	0.280000																										0				16						c.(55-57)cGa>cAa		keratin 15							55.0	68.0	64.0					17																	39675024		2201	4295	6496	SO:0001583	missense	3866	0	0					g.chr17:39675024C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.56G>A	chr17.hg19:g.39675024C>T	ENSP00000254043:p.Arg19Gln	0					KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	p.R19Q	NM_002275.3	NP_002266	1	2	3	2.015275	P19012	K1C15_HUMAN		1	3641	-		Breast(137;0.000286)	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	1	1	hg19	c.56G>A	CCDS11398.1	0	.	.	.	.	.	.	.	.	.	.	C	6.833	0.522964	0.13066	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86366	-2.11;-2.11	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.216324	0.23268	N	0.050055	T	0.66499	0.2795	N	0.08118	0	0.22468	N	0.999073	P	0.45428	0.858	B	0.29176	0.099	T	0.60525	-0.7246	10	0.17369	T	0.5	.	10.7105	0.45980	0.2441:0.7559:0.0:0.0	.	19	P19012	K1C15_HUMAN	Q	19	ENSP00000254043:R19Q;ENSP00000377546:R19Q	ENSP00000254043:R19Q	R	-	2	0	0	KRT15	36928550	36928550	0.000000	0.05858	0.061000	0.19648	0.076000	0.17211	-0.055000	0.11807	2.508000	0.84585	0.511000	0.50034	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	0	0	1		2	2	2	0		0	0	137		137	132	1	2.060000	-2.640257	1	0.170000	NM_002275			17	16		699	676	0		1			0	0	137	0		9.999531e-01	0	0	0	0	0	0	17	699
KRT19	3880	broad.mit.edu	37	17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A	rs533516685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	103	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGTTGGCCGCCTCCAGGGC	0.657																																						ENST00000361566.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(307-309)gCg>gTg		keratin 19							51.0	58.0	56.0					17																	39684192		2203	4300	6503	SO:0001583	missense	3880	0	0					g.chr17:39684192G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.308C>T	chr17.hg19:g.39684192G>A	ENSP00000355124:p.Ala103Val	0						p.A103V	NM_002276.4	NP_002267.2	1	2	3	2.015275	P08727	K1C19_HUMAN		1	368	-		Breast(137;0.00038)	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	1	1	hg19	c.308C>T	CCDS11399.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425371	0.62733	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89552	-2.53;-2.53	4.83	-2.78	0.05859	4.83	-2.78	0.05859	Filament (1);	2.457230	0.01645	N	0.024244	D	0.85535	0.5719	L	0.42632	1.34	0.09310	N	1	P	0.44260	0.83	B	0.37239	0.244	T	0.77362	-0.2616	10	0.66056	D	0.02	.	14.817	0.70041	0.0:0.0657:0.7151:0.2192	.	103	P08727	K1C19_HUMAN	V	103	ENSP00000355124:A103V;ENSP00000408759:A103V	ENSP00000355124:A103V	A	-	2	0	0	KRT19	36937718	36937718	0.000000	0.05858	0.252000	0.24328	0.992000	0.81027	-0.060000	0.11712	-0.783000	0.04534	0.462000	0.41574	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_002276			115	115		592	587	0		1	1		0	0	133	0		1	1	0	1430	0	2083	0	115	592
KRT16	3868	broad.mit.edu	37	17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592																																						ENST00000301653.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(802-804)Gga>Aga		keratin 16							84.0	71.0	75.0					17																	39767452		2203	4300	6503	SO:0001583	missense	3868	0	0					g.chr17:39767452C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.802G>A	chr17.hg19:g.39767452C>T	ENSP00000301653:p.Gly268Arg	0						p.G268R	NM_005557.3	NP_005548.2	1	2	3	2.015275	P08779	K1C16_HUMAN		4	866	-		Breast(137;0.000307)	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	1	1	hg19	c.802G>A	CCDS11401.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859297	0.51376	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.79	4.79	0.61399	4.79	4.79	0.61399	Filament (1);	0.000000	0.52532	D	0.000080	D	0.94414	0.8203	M	0.79258	2.445	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.95138	0.8261	10	0.87932	D	0	.	17.809	0.88610	0.0:1.0:0.0:0.0	.	268	P08779	K1C16_HUMAN	R	268	ENSP00000301653:G268R	ENSP00000301653:G268R	G	-	1	0	0	KRT16	37020978	37020978	1.000000	0.71417	0.913000	0.36048	0.014000	0.08584	7.818000	0.86416	2.371000	0.80710	0.462000	0.41574	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-2.958708	1	0.170000	NM_005557			76	75		363	348	1		1	1		0	0	92	0		1	9.999931e-01	0	58	0	26	0	76	363
ZZEF1	23140	broad.mit.edu	37	17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A	rs183088585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						AGACTTGAGCGCCATGCACTG	0.597																																						ENST00000381638.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(3667-3669)gCg>gTg		zinc finger, ZZ-type with EF-hand domain 1							107.0	105.0	106.0					17																	3977461		2203	4300	6503	SO:0001583	missense	23140	6	121412	42				g.chr17:3977461G>A	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.3668C>T	chr17.hg19:g.3977461G>A	ENSP00000371051:p.Ala1223Val	0					ZZEF1_ENST00000574474.1_5'Flank	p.A1223V	NM_015113.3	NP_055928.3	1	2	3	2.017774	O43149	ZZEF1_HUMAN		24	3792	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	1	1	hg19	c.3668C>T	CCDS11043.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.378065	0.95945	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.049827	0.85682	D	0.000000	T	0.43122	0.1233	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	P	0.53809	0.735	T	0.20405	-1.0276	10	0.66056	D	0.02	-9.3989	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1223	O43149	ZZEF1_HUMAN	V	1223	ENSP00000371051:A1223V	ENSP00000371051:A1223V	A	-	2	0	0	ZZEF1	3924210	3924210	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	7.516000	0.81772	2.780000	0.95670	0.655000	0.94253	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	1		2	2	2	1		1	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_015113			148	145		625	616	1		1	1		1	0	146	0		1	9.646023e-01	0	6	0	19	0	148	625
KRT16	3868	broad.mit.edu	37	17	39768755	39768755	+	Silent	SNP	G	G	A	rs200450332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692																																						ENST00000301653.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995340	0.990000	1.000000																										0				23						c.(184-186)tgC>tgT		keratin 16							28.0	35.0	32.0					17																	39768755		2179	4266	6445	SO:0001819	synonymous_variant	3868	18	120958	39				g.chr17:39768755G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.186C>T	chr17.hg19:g.39768755G>A		0						p.C62C	NM_005557.3	NP_005548.2	1	2	3	2.015275	P08779	K1C16_HUMAN		1	250	-		Breast(137;0.000307)	A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	0	1	hg19	c.186C>T	CCDS11401.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	1	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-8.994085	1	0.170000	NM_005557			14	14		91	85	1		1	1		0	0	20	0		9.997338e-01	2.579809e-01	0	2	0	5	0	14	91
KRT17	3872	broad.mit.edu	37	17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000311208.8	-	6	1063	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_ENST00000540235.1_Missense_Mutation_p.E491D	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	332	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTAGCGGTTCTCTGTCTCCG	0.637																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(994-996)gaG>gaT		keratin 17							49.0	50.0	49.0					17																	39777096		2202	4300	6502	SO:0001583	missense	3872	0	0					g.chr17:39777096C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.996G>T	chr17.hg19:g.39777096C>A	ENSP00000308452:p.Glu332Asp	0					JUP_ENST00000540235.1_Missense_Mutation_p.E491D	p.E332D	NM_000422.2	NP_000413.1	1	2	3	2.015275	Q04695	K1C17_HUMAN		6	1063	-		Breast(137;0.000307)	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	1	1	hg19	c.996G>T	CCDS11402.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076142	0.55646	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91894	-2.93;-2.93	4.0	3.03	0.35002	4.0	3.03	0.35002	Filament (1);	0.138484	0.32868	N	0.005548	D	0.93252	0.7850	M	0.86268	2.805	0.23287	N	0.99798	B	0.27823	0.19	B	0.40375	0.327	D	0.88549	0.3115	10	0.72032	D	0.01	.	10.116	0.42591	0.0:0.8399:0.0:0.1601	.	332	Q04695	K1C17_HUMAN	D	332;491	ENSP00000308452:E332D;ENSP00000441751:E491D	ENSP00000441751:E491D	E	-	3	2	2	JUP;KRT17	37030622	37030622	0.006000	0.16342	1.000000	0.80357	0.983000	0.72400	0.138000	0.16016	2.234000	0.73211	0.462000	0.41574	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_000422			94	92		329	324	0		1	1		0	0	62	0		1	1	0	345	0	469	0	94	329
KRT17	3872	broad.mit.edu	37	17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000311208.8	-	4	803	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_ENST00000540235.1_Missense_Mutation_p.G405C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	246	Linker 12.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTCCACGCCTGGGGCAGCG	0.567																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8	1.000000	0.300000	6.400000e-01	3.800000e-01	0.480000	0.535518	0.480000	0.470000																										0				12						c.(736-738)Ggc>Tgc		keratin 17							126.0	102.0	110.0					17																	39777943		2203	4300	6503	SO:0001583	missense	3872	0	0					g.chr17:39777943C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.736G>T	chr17.hg19:g.39777943C>A	ENSP00000308452:p.Gly246Cys	0					JUP_ENST00000540235.1_Missense_Mutation_p.G405C	p.G246C	NM_000422.2	NP_000413.1	1	2	3	2.015275	Q04695	K1C17_HUMAN		4	803	-		Breast(137;0.000307)	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	1	0	hg19	c.736G>T	CCDS11402.1	0	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425396	0.43020	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.77358	-1.09;-1.09	3.97	3.97	0.46021	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000199	D	0.91556	0.7333	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85779	0.1360	10	0.87932	D	0	.	16.6211	0.84930	0.0:1.0:0.0:0.0	.	246	Q04695	K1C17_HUMAN	C	246;405	ENSP00000308452:G246C;ENSP00000441751:G405C	ENSP00000441751:G405C	G	-	1	0	0	JUP;KRT17	37031469	37031469	0.014000	0.17966	0.702000	0.30337	0.417000	0.31264	1.905000	0.39878	2.214000	0.71695	0.655000	0.94253	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.214983	1	0.170000	NM_000422			22	22		534	521	0		1	1		0	0	110	0		9.999984e-01	1	0	10	0	1034	0	22	534
GAST	2520	broad.mit.edu	37	17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	91					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572																																						ENST00000329402.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(271-273)Gac>Tac		gastrin							72.0	73.0	73.0					17																	39872089		2203	4300	6503	SO:0001583	missense	2520	0	0					g.chr17:39872089G>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.271G>T	chr17.hg19:g.39872089G>T	ENSP00000331358:p.Asp91Tyr	0					JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	p.D91Y	NM_000805.4	NP_000796.1	1	2	3	2.015275	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)	3	338	+		Breast(137;0.000307)	P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	1	1	hg19	c.271G>T	CCDS11404.1	1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580594	0.46006	.	.	ENSG00000184502	ENST00000329402	T	0.69040	-0.37	4.74	4.74	0.60224	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.80924	0.4717	M	0.79475	2.455	0.40748	D	0.982895	D	0.89917	1.0	D	0.97110	1.0	D	0.83801	0.0236	10	0.87932	D	0	-27.5677	13.1178	0.59309	0.0:0.0:1.0:0.0	.	91	P01350	GAST_HUMAN	Y	91	ENSP00000331358:D91Y	ENSP00000331358:D91Y	D	+	1	0	0	GAST	37125615	37125615	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.178000	0.58284	2.455000	0.83008	0.655000	0.94253	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1	1	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-20.000000	1	0.170000				98	93		413	400	1		1	0		0	0	121	0		1	0	0	0	0	1	0	98	413
HAP1	9001	broad.mit.edu	37	17	39880966	39880966	+	Missense_Mutation	SNP	G	G	A	rs34381648	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39880966G>A	ENST00000310778.5	-	12	2012	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	HAP1_ENST00000347901.4_Missense_Mutation_p.S616L|HAP1_ENST00000393939.2_Missense_Mutation_p.S591L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.S599L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	668					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCGGCACGACGATCTGCAGCT	0.597																																						ENST00000310778.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2002-2004)tCg>tTg		huntingtin-associated protein 1							80.0	91.0	87.0					17																	39880966		2203	4299	6502	SO:0001583	missense	9001	2428	121406	68				g.chr17:39880966G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.2003C>T	chr17.hg19:g.39880966G>A	ENSP00000309392:p.Ser668Leu	0					JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.S591L|HAP1_ENST00000347901.4_Missense_Mutation_p.S616L|HAP1_ENST00000341193.5_Missense_Mutation_p.S599L	p.S668L			1	2	3	2.015275	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)	12	2012	-		Breast(137;0.000162)	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	1	0	hg19	c.2003C>T		1	.	.	.	.	.	.	.	.	.	.	G	8.438	0.850195	0.17034	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.08008	3.14;3.4;3.25;3.14	3.63	1.62	0.23740	3.63	1.62	0.23740	.	0.487129	0.15509	N	0.258658	T	0.05090	0.0136	N	0.24115	0.695	0.21184	N	0.999767	B;B;B;B	0.27117	0.168;0.168;0.045;0.027	B;B;B;B	0.16722	0.016;0.016;0.016;0.007	T	0.33701	-0.9858	10	0.87932	D	0	-1.9238	5.2562	0.15548	0.264:0.0:0.736:0.0	.	591;599;616;668	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	591;668;616;599	ENSP00000377513:S591L;ENSP00000309392:S668L;ENSP00000334002:S616L;ENSP00000343170:S599L	ENSP00000309392:S668L	S	-	2	0	0	HAP1	37134492	37134492	0.074000	0.21230	0.268000	0.24571	0.011000	0.07611	0.184000	0.16939	0.877000	0.35895	-0.350000	0.07774	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	1	0	1		2	2	2	0		0	0	125		125	121	1	2.060000	-3.142668	1	0.170000	NM_003949			125	120		769	758	1		1			0	0	125	0		1	0	0	0	0	0	0	125	769
HAP1	9001	broad.mit.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000310778.5	-	12	1730	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000393939.2_Missense_Mutation_p.A497D|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	574	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632																																						ENST00000310778.5	1.000000	0.450000	6.400000e-01	5.000000e-01	0.550000	0.600320	0.550000	0.550000																										1	Substitution - Missense(1)	p.A522G(1)	ovary(1)	21						c.(1720-1722)gCt>gAt		huntingtin-associated protein 1							236.0	228.0	231.0					17																	39881248		2203	4300	6503	SO:0001583	missense	9001	0	0					g.chr17:39881248G>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1721C>A	chr17.hg19:g.39881248G>T	ENSP00000309392:p.Ala574Asp	0					JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.A497D|HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D	p.A574D			1	2	3	2.015275	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)	12	1730	-		Breast(137;0.000162)	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	1	1	hg19	c.1721C>A		0	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153146	0.57259	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38560	1.13;2.9;3.19;3.01;2.91	4.14	3.13	0.36017	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.45175	0.1329	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63046	0.992;0.992;0.98;0.965	P;P;P;P	0.58391	0.838;0.774;0.745;0.561	T	0.28713	-1.0035	10	0.87932	D	0	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	D	29;497;574;522;505	ENSP00000404640:A29D;ENSP00000377513:A497D;ENSP00000309392:A574D;ENSP00000334002:A522D;ENSP00000343170:A505D	ENSP00000309392:A574D	A	-	2	0	0	HAP1	37134774	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	1	0	1		2	2	2	0		0	0	437		437	432	1	2.060000	-7.319677	1	0.170000	NM_003949			96	94		1965	1900	0		1			0	0	437	0		1	0	0	0	0	0	0	96	1965
JUP	3728	broad.mit.edu	37	17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	444					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1330-1332)Cgt>Tgt		junction plakoglobin							160.0	120.0	134.0					17																	39919402		2203	4300	6503	SO:0001583	missense	3728	2	121412	30				g.chr17:39919402G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1330C>T	chr17.hg19:g.39919402G>A	ENSP00000377508:p.Arg444Cys	0					JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R444C|JUP_ENST00000310706.5_Missense_Mutation_p.R444C	p.R444C	NM_002230.2	NP_002221.1	1	2	3	2.015275	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	8	1448	-		Breast(137;0.000162)	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	1	1	hg19	c.1330C>T	CCDS11407.1	1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728521	0.69074	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01406	4.93;4.93;4.93	5.08	1.81	0.25067	5.08	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.29150	-1.0021	10	0.87932	D	0	-8.3127	7.3789	0.26843	0.1507:0.0:0.7112:0.1381	.	444	P14923	PLAK_HUMAN	C	444	ENSP00000377507:R444C;ENSP00000311113:R444C;ENSP00000377508:R444C	ENSP00000311113:R444C	R	-	1	0	0	JUP	37172928	37172928	1.000000	0.71417	0.976000	0.42696	0.847000	0.48162	2.941000	0.49011	0.668000	0.31126	0.491000	0.48974	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				58	57		262	256	1		1	1		0	0	56	0		1	1	0	262	0	491	0	58	262
FKBP10	60681	broad.mit.edu	37	17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	472	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657																																						ENST00000321562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1414-1416)Ggc>Tgc		FK506 binding protein 10, 65 kDa							113.0	104.0	107.0					17																	39977920		2203	4300	6503	SO:0001583	missense	60681	0	0					g.chr17:39977920G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1414G>T	chr17.hg19:g.39977920G>T	ENSP00000317232:p.Gly472Cys	0					FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	p.G472C	NM_021939.3	NP_068758.3	1	2	3	2.015275	Q96AY3	FKB10_HUMAN		9	1518	+		Breast(137;0.00122)	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	1	1	hg19	c.1414G>T	CCDS11409.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485740|3.485740	0.63962|0.63962	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56444|.	0.46;0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.153182|.	0.42053|.	D|.	0.000771|.	D|D	0.84973|0.84973	0.5591|0.5591	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.967|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.52906|.	T|.	0.07|.	-18.8789|-18.8789	14.788|14.788	0.69819|0.69819	0.0:0.144:0.856:0.0|0.0:0.144:0.856:0.0	.|.	245;472|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|H	360;472;472;245|275	ENSP00000317232:G472C;ENSP00000442009:G245C|.	ENSP00000269598:G360C|.	G|Q	+|+	1|3	0|2	0|2	FKBP10|FKBP10	37231446|37231446	37231446|37231446	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.680000|0.680000	0.39746|0.39746	3.264000|3.264000	0.51553|0.51553	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GGC|CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_021939			64	65		341	333	1		1	1		0	0	82	0		1	1	0	2	0	349	0	64	341
FKBP10	60681	broad.mit.edu	37	17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	537					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602																																						ENST00000321562.4	1.000000	0.540000	1	7.300000e-01	0.990000	0.899857	0.990000	1.000000																										0				14						c.(1609-1611)Ctc>Atc		FK506 binding protein 10, 65 kDa							68.0	57.0	61.0					17																	39978520		2203	4300	6503	SO:0001583	missense	60681	0	0					g.chr17:39978520C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1609C>A	chr17.hg19:g.39978520C>A	ENSP00000317232:p.Leu537Ile	0					FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	p.L537I	NM_021939.3	NP_068758.3	1	2	3	2.015275	Q96AY3	FKB10_HUMAN		10	1713	+		Breast(137;0.00122)	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	1	1	hg19	c.1609C>A	CCDS11409.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018100|4.018100	0.75275|0.75275	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000414352	T;T|.	0.55052|.	0.54;0.54|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	EF-hand-like domain (1);|.	0.085714|.	0.48286|.	D|.	0.000194|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.28115|0.28115	0.83|0.83	0.49130|0.49130	D|D	0.999752|0.999752	P;B|.	0.45283|.	0.855;0.077|.	B;B|.	0.44163|.	0.443;0.021|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|6	0.34782|0.72032	T|D	0.22|0.01	-27.9767|-27.9767	8.9862|8.9862	0.35994|0.35994	0.1487:0.7782:0.0:0.0731|0.1487:0.7782:0.0:0.0731	.|.	310;537|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	I|H	425;537;310|536	ENSP00000317232:L537I;ENSP00000442009:L310I|.	ENSP00000269598:L425I|ENSP00000389800:P536H	L|P	+|+	1|2	0|0	0|0	FKBP10|FKBP10	37232046|37232046	37232046|37232046	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	3.196000|3.196000	0.51020|0.51020	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CTC|CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-16.920560	1	0.170000	NM_021939			12	12		138	135	0		1	1		0	0	35	0		9.991426e-01	9.999999e-01	0	2	0	439	0	12	138
KLHL10	317719	broad.mit.edu	37	17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	NT5C3B_ENST00000269534.8_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|RN7SL871P_ENST00000583512.1_RNA|KLHL10_ENST00000485613.1_3'UTR|NT5C3B_ENST00000521789.1_5'Flank	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	36					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)				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)				AGACTAGAGGGCAAGCTCTGC	0.522																																						ENST00000293303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(106-108)gGc>gAc		kelch-like family member 10							146.0	147.0	146.0					17																	39994291		2080	4208	6288	SO:0001583	missense	317719	0	0					g.chr17:39994291G>A	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.107G>A	chr17.hg19:g.39994291G>A	ENSP00000293303:p.Gly36Asp	0					NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000269534.8_5'Flank	p.G36D	NM_152467.3	NP_689680.2	1	2	3	2.015275	Q6JEL2	KLH10_HUMAN		1	260	+		Breast(137;0.000162)	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	1	1	hg19	c.107G>A	CCDS42340.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514210	0.64522	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.72167	-0.63;-0.63;-0.63	4.84	4.84	0.62591	4.84	4.84	0.62591	BTB/POZ (1);BTB/POZ fold (2);	0.478194	0.23137	N	0.051501	T	0.78091	0.4229	L	0.49778	1.585	0.42499	D	0.992925	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.917	T	0.74321	-0.3703	10	0.26408	T	0.33	.	14.8509	0.70295	0.0:0.0:1.0:0.0	.	36;36	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	36	ENSP00000391983:G36D;ENSP00000293303:G36D;ENSP00000416221:G36D	ENSP00000293303:G36D	G	+	2	0	0	KLHL10	37247817	37247817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.787000	0.69013	2.542000	0.85734	0.650000	0.86243	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_152467			109	106		418	410	1		1	0		0	0	87	0		1	0	0	0	0	1	0	109	418
KLHL10	317719	broad.mit.edu	37	17	39998189	39998189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)				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)				GGACCGTGCCTATCACACCGG	0.493																																						ENST00000293303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(307-309)ccT>ccC		kelch-like family member 10							127.0	117.0	120.0					17																	39998189		1984	4172	6156	SO:0001819	synonymous_variant	317719	0	0					g.chr17:39998189T>C	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.309T>C	chr17.hg19:g.39998189T>C		0					KLHL10_ENST00000485613.1_3'UTR	p.P103P	NM_152467.3	NP_689680.2	1	2	3	2.015275	Q6JEL2	KLH10_HUMAN		2	462	+		Breast(137;0.000162)	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	1	1	hg19	c.309T>C	CCDS42340.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	0		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_152467			93	91		352	345	1		1			0	0	96	0		1	0	0	0	0	0	0	93	352
KLHL10	317719	broad.mit.edu	37	17	39998252	39998252	+	Silent	SNP	C	C	T	rs544035963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	124					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)				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)				TCATGGGTATCGTCAGGGGTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20416	0.0		0.0	False		,,,				2504	0.001					ENST00000293303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(370-372)atC>atT		kelch-like family member 10							119.0	112.0	114.0					17																	39998252		1997	4178	6175	SO:0001819	synonymous_variant	317719	4	120922	37				g.chr17:39998252C>T	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.372C>T	chr17.hg19:g.39998252C>T		0					KLHL10_ENST00000485613.1_3'UTR	p.I124I	NM_152467.3	NP_689680.2	1	2	3	2.015275	Q6JEL2	KLH10_HUMAN		2	525	+		Breast(137;0.000162)	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	1	1	hg19	c.372C>T	CCDS42340.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	0		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_152467			76	73		275	269	1		1			0	0	75	0		1	0	0	0	0	0	0	76	275
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428					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)				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)				TGATGCAAGCGCCACAACACT	0.498																																						ENST00000293303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1282-1284)Gcc>Acc		kelch-like family member 10							50.0	50.0	50.0					17																	40001975		2110	4230	6340	SO:0001583	missense	317719	0	0					g.chr17:40001975G>A	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.1282G>A	chr17.hg19:g.40001975G>A	ENSP00000293303:p.Ala428Thr	0					RP11-156E6.1_ENST00000560400.1_RNA	p.A428T	NM_152467.3	NP_689680.2	1	2	3	2.015275	Q6JEL2	KLH10_HUMAN		3	1435	+		Breast(137;0.000162)	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	1	1	hg19	c.1282G>A	CCDS42340.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	0	KLHL10	37255501	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	0		2	2	2	0		0	0	65		65	62	1	2.060000	-20.000000	1	0.170000	NM_152467			48	48		204	196	1		1	0		0	0	65	0		1	3.753064e-02	0	0	0	2	0	48	204
KLHL11	55175	broad.mit.edu	37	17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	529										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438																																						ENST00000319121.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1585-1587)Aca>Gca		kelch-like family member 11							93.0	85.0	88.0					17																	40010534		2203	4300	6503	SO:0001583	missense	55175	0	0					g.chr17:40010534T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1585A>G	chr17.hg19:g.40010534T>C	ENSP00000314608:p.Thr529Ala	0					RP11-156E6.1_ENST00000560400.1_RNA	p.T529A	NM_018143.1	NP_060613.1	1	2	3	2.015275	Q9NVR0	KLH11_HUMAN		2	1645	-		Breast(137;0.00156)		Missense_Mutation	SNP	ENST00000319121.3	1	1	hg19	c.1585A>G	CCDS11411.1	1	.	.	.	.	.	.	.	.	.	.	T	0.323	-0.961002	0.02249	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	4.18	0.49190	5.26	4.18	0.49190	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.29908	0.895	0.45946	D	0.998776	B	0.15473	0.013	B	0.12156	0.007	T	0.44757	-0.9307	10	0.40728	T	0.16	-0.0634	9.0051	0.36106	0.0:0.2059:0.0:0.7941	.	529	Q9NVR0	KLH11_HUMAN	A	529;392	ENSP00000314608:T529A	ENSP00000314608:T529A	T	-	1	0	0	KLHL11	37264060	37264060	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.133000	0.50531	0.942000	0.37525	0.477000	0.44152	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_018143			95	94		376	369	1		1	1		0	0	80	0		1	8.830006e-01	0	4	0	13	0	95	376
KLHL11	55175	broad.mit.edu	37	17	40011445	40011445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40011445G>A	ENST00000319121.3	-	2	734	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	225	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TATCATATCAGCAGCCTTCAG	0.383																																						ENST00000319121.3	1.000000	0.170000	4.500000e-01	2.300000e-01	0.310000	0.383684	0.310000	0.300000																										0				17						c.(673-675)gCt>gTt		kelch-like family member 11							82.0	82.0	82.0					17																	40011445		2203	4300	6503	SO:0001583	missense	55175	0	0					g.chr17:40011445G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.674C>T	chr17.hg19:g.40011445G>A	ENSP00000314608:p.Ala225Val	0						p.A225V	NM_018143.1	NP_060613.1	1	2	3	2.015275	Q9NVR0	KLH11_HUMAN		2	734	-		Breast(137;0.00156)		Missense_Mutation	SNP	ENST00000319121.3	1	1	hg19	c.674C>T	CCDS11411.1	0	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768529	0.31320	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.68903	-0.36	4.84	4.84	0.62591	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.124523	0.53938	D	0.000058	T	0.51753	0.1693	N	0.25647	0.755	0.80722	D	1	B	0.26363	0.147	B	0.13407	0.009	T	0.50101	-0.8867	10	0.33141	T	0.24	5.868	13.8592	0.63550	0.0:0.0:0.8372:0.1628	.	225	Q9NVR0	KLH11_HUMAN	V	225;88	ENSP00000314608:A225V	ENSP00000314608:A225V	A	-	2	0	0	KLHL11	37264971	37264971	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.318000	0.96334	2.225000	0.72522	0.591000	0.81541	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	0	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.236981	1	0.170000	NM_018143			13	13		504	493	0		1	1		0	0	102	0		9.994728e-01	9.436957e-02	0	2	0	17	0	13	504
ACLY	47	broad.mit.edu	37	17	40039420	40039420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40039420G>A	ENST00000352035.2	-	20	2350	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000537919.1_Silent_p.I469I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	740					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCAGCAGACGATGGGCTTAG	0.562																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2	1.000000	0.090000	3.400000e-01	1.400000e-01	0.210000	0.297260	0.210000	0.200000																									NTN1/ACLY(2)	0				28						c.(2218-2220)atC>atT		ATP citrate lyase							94.0	90.0	91.0					17																	40039420		2203	4300	6503	SO:0001819	synonymous_variant	47	1	121412	38				g.chr17:40039420G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2220C>T	chr17.hg19:g.40039420G>A		0					ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000537919.1_Silent_p.I469I	p.I740I	NM_001096.2	NP_001087.2	1	2	3	2.015275	P53396	ACLY_HUMAN		20	2350	-		Breast(137;0.000143)	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	0	1	hg19	c.2220C>T	CCDS11412.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-2.902372	1	0.170000	NM_001096			8	8		467	457	0		1	1		0	0	83	0		9.885381e-01	9.950153e-01	0	15	0	552	0	8	467
ACLY	47	broad.mit.edu	37	17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	703					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									NTN1/ACLY(2)	0				28						c.(2107-2109)cGc>cAc		ATP citrate lyase							89.0	79.0	82.0					17																	40040492		2203	4300	6503	SO:0001583	missense	47	0	0					g.chr17:40040492C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2108G>A	chr17.hg19:g.40040492C>T	ENSP00000253792:p.Arg703His	0					ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H	p.R703H	NM_001096.2	NP_001087.2	1	2	3	2.015275	P53396	ACLY_HUMAN		19	2238	-		Breast(137;0.000143)	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	1	1	hg19	c.2108G>A	CCDS11412.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.69	5.69	0.88448	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.96015	3.755	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	0.954;1.0;1.0;1.0;0.999	D	0.93454	0.6804	10	0.87932	D	0	.	19.8073	0.96535	0.0:1.0:0.0:0.0	.	432;747;757;693;703	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	703;757;693;432;693	ENSP00000253792:R703H;ENSP00000345398:R693H;ENSP00000445349:R432H;ENSP00000377474:R693H	ENSP00000253792:R703H	R	-	2	0	0	ACLY	37294018	37294018	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.704000	0.84595	2.685000	0.91497	0.455000	0.32223	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	0	1		13	20	2	1		1	1	56		56	56	1	2.060000	-3.697942	1	0.170000	NM_001096			42	41		164	161	1		1	1		1	0	56	0		9.999938e-01	1	0	67	0	290	0	42	164
ACLY	47	broad.mit.edu	37	17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	576					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																									NTN1/ACLY(2)	0				28						c.(1726-1728)cGc>cAc		ATP citrate lyase							109.0	88.0	95.0					17																	40048575		2203	4300	6503	SO:0001583	missense	47	0	0					g.chr17:40048575C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1727G>A	chr17.hg19:g.40048575C>T	ENSP00000253792:p.Arg576His	0					ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H	p.R576H	NM_001096.2	NP_001087.2	1	2	3	2.015275	P53396	ACLY_HUMAN		16	1857	-		Breast(137;0.000143)	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	1	1	hg19	c.1727G>A	CCDS11412.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.395884	0.96009	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.64	5.64	0.86602	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.996;0.996;0.999;0.991	D	0.95226	0.8338	10	0.87932	D	0	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	305;620;630;566;576	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	576;630;566;305;566	ENSP00000253792:R576H;ENSP00000345398:R566H;ENSP00000445349:R305H;ENSP00000377474:R566H	ENSP00000253792:R576H	R	-	2	0	0	ACLY	37302101	37302101	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.089272	1	0.170000	NM_001096			42	42		230	226	1		1	1		0	0	58	0		1	1	0	99	0	267	0	42	230
ACLY	47	broad.mit.edu	37	17	40062789	40062789	+	Silent	SNP	G	G	A	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	286					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602													G|||	19	0.00379393	0.0144	0.0	5008	,	,		17473	0.0		0.0	False		,,,				2504	0.0				Colon(64;807 1396 15971 30971)	ENST00000352035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									NTN1/ACLY(2)	0				28						c.(856-858)gtC>gtT		ATP citrate lyase		G	,	39,4367	43.1+/-76.7	0,39,2164	104.0	96.0	99.0		858,858	-4.2	0.9	17	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,39,6464	AA,AG,GG		0.0,0.8852,0.2999	,	286/1102,286/1092	40062789	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	47	106	121412	53				g.chr17:40062789G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.858C>T	chr17.hg19:g.40062789G>A		0					ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron	p.V286V	NM_001096.2	NP_001087.2	1	2	3	2.015275	P53396	ACLY_HUMAN		8	988	-		Breast(137;0.000143)	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	1	1	hg19	c.858C>T	CCDS11412.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-3.970872	1	0.170000	NM_001096			97	96		457	442	1		1	1		0	0	109	0		1	1	0	81	0	303	0	97	457
CNP	1267	broad.mit.edu	37	17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000472031.1_Intron|TTC25_ENST00000591658.1_RNA|CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	60					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)			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)		CGGCCTGCCAGGAAGCGGCAA	0.602																																						ENST00000393892.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998586	0.990000	1.000000																										0				9						c.(178-180)Gga>Aga		2',3'-cyclic nucleotide 3' phosphodiesterase							40.0	43.0	42.0					17																	40120260		2136	4229	6365	SO:0001583	missense	1267	0	0					g.chr17:40120260G>A		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	ENST00000393892.3:c.178G>A	chr17.hg19:g.40120260G>A	ENSP00000377470:p.Gly60Arg	0					CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|TTC25_ENST00000591658.1_RNA|CNP_ENST00000592446.1_3'UTR	p.G60R	NM_033133.4	NP_149124.3	1	2	3	2.015275	P09543	CN37_HUMAN		2	322	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000393892.3	1	1	hg19	c.178G>A	CCDS11414.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.246472	0.95305	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888;ENST00000441615	T;T;T	0.68479	-0.33;-0.33;-0.33	4.86	4.86	0.63082	4.86	4.86	0.63082	Zeta toxin domain (1);	0.171566	0.50627	D	0.000109	D	0.83571	0.5283	M	0.82716	2.605	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	0.86021	0.1507	10	0.87932	D	0	-26.7928	18.5312	0.90993	0.0:0.0:1.0:0.0	.	60;60;40	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	R	60;60;40;40	ENSP00000377470:G60R;ENSP00000377466:G40R;ENSP00000413104:G40R	ENSP00000309643:G60R	G	+	1	0	0	CNP	37373786	37373786	1.000000	0.71417	0.930000	0.37139	0.989000	0.77384	8.357000	0.90088	2.683000	0.91414	0.555000	0.69702	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000				26	26		181	176	1		1	1		0	0	42	0		9.999999e-01	1	0	64	0	213	0	26	181
CNP	1267	broad.mit.edu	37	17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000393888.1_Missense_Mutation_p.A309T|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.A94T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	329					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)			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)		GGGGAGCCGCGCCCACATCAC	0.652																																						ENST00000393892.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(985-987)Gcc>Acc		2',3'-cyclic nucleotide 3' phosphodiesterase							33.0	40.0	38.0					17																	40125661		2017	4149	6166	SO:0001583	missense	1267	1	120960	32				g.chr17:40125661G>A		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	ENST00000393892.3:c.985G>A	chr17.hg19:g.40125661G>A	ENSP00000377470:p.Ala329Thr	0					CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000393888.1_Missense_Mutation_p.A309T	p.A329T	NM_033133.4	NP_149124.3	1	2	3	2.015275	P09543	CN37_HUMAN		4	1129	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000393892.3	1	1	hg19	c.985G>A	CCDS11414.2	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378658	0.82682	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.58358	0.34;0.34	4.83	4.83	0.62350	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184155	0.47093	D	0.000259	T	0.71500	0.3347	M	0.69823	2.125	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75105	-0.3435	10	0.87932	D	0	-13.2322	15.8956	0.79333	0.0:0.0:1.0:0.0	.	206;329	B4DI06;P09543	.;CN37_HUMAN	T	329;205;309	ENSP00000377470:A329T;ENSP00000377466:A309T	ENSP00000309643:A205T	A	+	1	0	0	CNP	37379187	37379187	1.000000	0.71417	0.275000	0.24674	0.525000	0.34531	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2	1	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-20.000000	1	0.170000				82	81		365	359	1		1	1		0	0	80	0		1	1	0	64	0	239	0	82	365
DHX58	79132	broad.mit.edu	37	17	40257177	40257177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	420	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587																																						ENST00000251642.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				16						c.(1258-1260)caG>caA		DEXH (Asp-Glu-X-His) box polypeptide 58							49.0	41.0	44.0					17																	40257177		2203	4300	6503	SO:0001819	synonymous_variant	79132	0	0					g.chr17:40257177C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1260G>A	chr17.hg19:g.40257177C>T		0						p.Q420Q	NM_024119.2	NP_077024.2	1	2	3	2.015275	Q96C10	DHX58_HUMAN		10	1482	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	Q9HAM6	Silent	SNP	ENST00000251642.3	1	1	hg19	c.1260G>A	CCDS11416.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_024119			25	24		111	109	1		1	1		0	0	30	0		9.999999e-01	9.999993e-01	0	31	0	82	0	25	111
DHX58	79132	broad.mit.edu	37	17	40259626	40259626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662																																						ENST00000251642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(991-993)ttC>ttT		DEXH (Asp-Glu-X-His) box polypeptide 58							15.0	15.0	15.0					17																	40259626		2203	4296	6499	SO:0001819	synonymous_variant	79132	0	0					g.chr17:40259626G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.993C>T	chr17.hg19:g.40259626G>A		0						p.F331F	NM_024119.2	NP_077024.2	1	2	3	2.015275	Q96C10	DHX58_HUMAN		8	1215	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	Q9HAM6	Silent	SNP	ENST00000251642.3	1	1	hg19	c.993C>T	CCDS11416.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	0	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_024119			27	26		92	91	0		1	1		0	0	24	0		1	1	0	34	0	113	0	27	92
DHX58	79132	broad.mit.edu	37	17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	322					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662																																						ENST00000251642.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				16						c.(964-966)tGt>tAt		DEXH (Asp-Glu-X-His) box polypeptide 58							31.0	30.0	30.0					17																	40259654		2203	4300	6503	SO:0001583	missense	79132	0	0					g.chr17:40259654C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.965G>A	chr17.hg19:g.40259654C>T	ENSP00000251642:p.Cys322Tyr	0						p.C322Y	NM_024119.2	NP_077024.2	1	2	3	2.015275	Q96C10	DHX58_HUMAN		8	1187	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	1	1	hg19	c.965G>A	CCDS11416.1	1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659381	0.47467	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.04275	3.66	5.38	-6.61	0.01818	5.38	-6.61	0.01818	.	1.661990	0.03753	N	0.256957	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.46652	-0.9176	10	0.59425	D	0.04	.	8.7319	0.34505	0.0:0.588:0.1601:0.2519	.	315;322	B7Z455;Q96C10	.;DHX58_HUMAN	Y	322;285	ENSP00000251642:C322Y	ENSP00000251642:C322Y	C	-	2	0	0	DHX58	37513180	37513180	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-3.723000	0.00383	-0.846000	0.04174	0.462000	0.41574	TGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_024119			24	23		107	106	0		1	1		0	0	30	0		9.999998e-01	9.999993e-01	0	18	0	97	0	24	107
KAT2A	2648	broad.mit.edu	37	17	40266508	40266508	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	712					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587																																						ENST00000225916.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(2134-2136)Cga>Tga		K(lysine) acetyltransferase 2A							199.0	192.0	194.0					17																	40266508		2203	4300	6503	SO:0001630	splice_region_variant	2648	0	0					g.chr17:40266508G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2134+1C>T	chr17.hg19:g.40266508G>A		0					DHX58_ENST00000251642.3_5'Flank	p.R712*	NM_021078.2	NP_066564.2	1	2	3	2.015275	Q92830	KAT2A_HUMAN		14	2187	-			Q8N1A2|Q9UCW1	Splice_Site	SNP	ENST00000225916.5	0	1	hg19	c.2134C>T	CCDS11417.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.631659	0.96682	.	.	ENSG00000108773	ENST00000225916	.	.	.	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.445	17.8076	0.88606	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	.	R	-	1	2	2	KAT2A	37520034	37520034	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	1.883000	0.39658	2.192000	0.70111	0.462000	0.41574	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	0	0	0		23	3	2	1		1	2	267		267	264	1	2.060000	-20.000000	1	0.170000	NM_021078	Nonsense_Mutation		154	150		1106	1084	0		1	1		1	0	267	0		1	9.952454e-01	0	3	0	71	0	154	1106
KAT2A	2648	broad.mit.edu	37	17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	608	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582																																						ENST00000225916.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1822-1824)Ctc>Ttc		K(lysine) acetyltransferase 2A							257.0	233.0	241.0					17																	40267794		2203	4300	6503	SO:0001583	missense	2648	0	0					g.chr17:40267794G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1822C>T	chr17.hg19:g.40267794G>A	ENSP00000225916:p.Leu608Phe	0						p.L608F	NM_021078.2	NP_066564.2	1	2	3	2.015275	Q92830	KAT2A_HUMAN		12	1875	-			Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	1	1	hg19	c.1822C>T	CCDS11417.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927266	0.92389	.	.	ENSG00000108773	ENST00000225916	T	0.05925	3.37	5.32	5.32	0.75619	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33485	1.01	0.80722	D	1	D	0.63880	0.993	P	0.61874	0.895	T	0.00842	-1.1544	10	0.56958	D	0.05	-26.4525	18.5847	0.91185	0.0:0.0:1.0:0.0	.	608	Q92830	KAT2A_HUMAN	F	608	ENSP00000225916:L608F	ENSP00000225916:L608F	L	-	1	0	0	KAT2A	37521320	37521320	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.488000	0.83962	0.462000	0.41574	CTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_021078			111	110		584	566	1		1	1		0	0	135	0		1	9.999960e-01	0	36	0	57	0	111	584
KAT2A	2648	broad.mit.edu	37	17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	304					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607																																						ENST00000225916.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(910-912)aGc>aTc		K(lysine) acetyltransferase 2A							89.0	87.0	88.0					17																	40271425		2203	4300	6503	SO:0001583	missense	2648	0	0					g.chr17:40271425C>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.911G>T	chr17.hg19:g.40271425C>A	ENSP00000225916:p.Ser304Ile	0						p.S304I	NM_021078.2	NP_066564.2	1	2	3	2.015275	Q92830	KAT2A_HUMAN		6	964	-			Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	1	1	hg19	c.911G>T	CCDS11417.1	1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529346	0.44969	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	4.69	3.7	0.42460	4.69	3.7	0.42460	PCAF, N-terminal (1);	0.043254	0.85682	D	0.000000	T	0.07999	0.0200	L	0.36672	1.1	0.52501	D	0.999959	B	0.29805	0.257	B	0.36030	0.216	T	0.31280	-0.9949	10	0.33940	T	0.23	-20.4372	14.1904	0.65635	0.1507:0.8493:0.0:0.0	.	304	Q92830	KAT2A_HUMAN	I	304	ENSP00000225916:S304I	ENSP00000225916:S304I	S	-	2	0	0	KAT2A	37524951	37524951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.005000	0.49521	1.175000	0.42826	0.555000	0.69702	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_021078			106	104		496	486	1		1	1		0	0	141	0		1	9.998846e-01	0	18	0	45	0	106	496
KCNH4	23415	broad.mit.edu	37	17	40312104	40312104	+	Missense_Mutation	SNP	C	C	A	rs567252082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40312104C>A	ENST00000264661.3	-	16	3340	c.3008G>T	c.(3007-3009)aGc>aTc	p.S1003I	KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1003					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCAAGAGGCTTGGGGTTGG	0.652																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.190000	6.300000e-01	2.800000e-01	0.410000	0.474488	0.410000	0.380000																										0				32						c.(3007-3009)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 4							34.0	35.0	35.0					17																	40312104		2203	4300	6503	SO:0001583	missense	23415	0	0					g.chr17:40312104C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.3008G>T	chr17.hg19:g.40312104C>A	ENSP00000264661:p.Ser1003Ile	0					KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	p.S1003I	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		16	3340	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000264661.3	0	1	hg19	c.3008G>T	CCDS11420.1	0	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905727	0.17760	.	.	ENSG00000089558	ENST00000264661	D	0.98835	-5.17	5.02	3.02	0.34903	5.02	3.02	0.34903	.	0.136685	0.33631	N	0.004718	D	0.93854	0.8034	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.23018	0.043	D	0.89055	0.3458	10	0.66056	D	0.02	.	6.6623	0.23020	0.0:0.7241:0.1803:0.0956	.	1003	Q9UQ05	KCNH4_HUMAN	I	1003	ENSP00000264661:S1003I	ENSP00000264661:S1003I	S	-	2	0	0	KCNH4	37565630	37565630	0.680000	0.27605	0.722000	0.30670	0.386000	0.30323	0.986000	0.29590	0.691000	0.31592	-0.305000	0.09177	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-9.694676	1	0.170000	NM_012285			8	8		241	233	0		1			0	0	49	0		9.882278e-01	0	0	0	0	0	0	8	241
KCNH4	23415	broad.mit.edu	37	17	40317623	40317623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	643					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999794	0.990000	1.000000																										0				32						c.(1927-1929)agT>agC		potassium voltage-gated channel, subfamily H (eag-related), member 4							82.0	71.0	74.0					17																	40317623		2203	4300	6503	SO:0001819	synonymous_variant	23415	0	0					g.chr17:40317623A>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1929T>C	chr17.hg19:g.40317623A>G		0					KCNH4_ENST00000607371.1_Silent_p.S643S	p.S643S	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		11	2261	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Silent	SNP	ENST00000264661.3	1	1	hg19	c.1929T>C	CCDS11420.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_012285			39	37		264	262	0		1			0	0	48	0		1	0	0	0	0	0	0	39	264
KCNH4	23415	broad.mit.edu	37	17	40318319	40318319	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	ENST00000264661.3	-	10	2168	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	KCNH4_ENST00000607371.1_Silent_p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	612					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAGGATGGCCAGCA	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.690000	1	9.800000e-01	0.990000	0.972345	0.990000	1.000000																										0				32						c.(1834-1836)atC>atA		potassium voltage-gated channel, subfamily H (eag-related), member 4							61.0	55.0	57.0					17																	40318319		2203	4300	6503	SO:0001819	synonymous_variant	23415	0	0					g.chr17:40318319G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1836C>A	chr17.hg19:g.40318319G>T		0					KCNH4_ENST00000607371.1_Silent_p.I612I	p.I612I	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		10	2168	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Silent	SNP	ENST00000264661.3	0	1	hg19	c.1836C>A	CCDS11420.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	0		2	2	2	0		0	0	9		9	9	1	2.060000	-15.918490	1	0.170000	NM_012285			9	9		71	70	0		1			0	0	9	0		9.948237e-01	0	0	0	0	0	0	9	71
KCNH4	23415	broad.mit.edu	37	17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	554					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.290000	8.200000e-01	4.100000e-01	0.570000	0.611824	0.570000	0.530000																										0				32						c.(1660-1662)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 4							46.0	38.0	41.0					17																	40318495		2203	4300	6503	SO:0001583	missense	23415	0	0					g.chr17:40318495G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1660C>A	chr17.hg19:g.40318495G>T	ENSP00000264661:p.Leu554Met	0					KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	p.L554M	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		10	1992	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000264661.3	1	1	hg19	c.1660C>A	CCDS11420.1	0	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120584	0.77323	.	.	ENSG00000089558	ENST00000264661	D	0.96940	-4.18	4.2	3.19	0.36642	4.2	3.19	0.36642	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.31461	N	0.007619	D	0.97445	0.9164	M	0.74881	2.28	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	10	0.52906	T	0.07	.	12.2967	0.54852	0.0851:0.0:0.9149:0.0	.	554	Q9UQ05	KCNH4_HUMAN	M	554	ENSP00000264661:L554M	ENSP00000264661:L554M	L	-	1	2	2	KCNH4	37572021	37572021	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.745000	0.62125	2.182000	0.69389	0.563000	0.77884	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-13.057070	1	0.170000	NM_012285			11	11		232	225	0		1	0		0	0	48	0		9.981682e-01	0	0	0	0	1	0	11	232
KCNH4	23415	broad.mit.edu	37	17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	509					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1525-1527)aAg>aGg		potassium voltage-gated channel, subfamily H (eag-related), member 4							77.0	70.0	72.0					17																	40321559		2203	4300	6503	SO:0001583	missense	23415	0	0					g.chr17:40321559T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1526A>G	chr17.hg19:g.40321559T>C	ENSP00000264661:p.Lys509Arg	0					KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	p.K509R	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		9	1858	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000264661.3	1	1	hg19	c.1526A>G	CCDS11420.1	1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795161	0.50208	.	.	ENSG00000089558	ENST00000264661	D	0.96522	-4.04	4.18	4.18	0.49190	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.40728	N	0.001028	D	0.91205	0.7229	N	0.25286	0.73	0.54753	D	0.999988	B	0.19706	0.038	B	0.26614	0.071	D	0.86502	0.1804	10	0.07482	T	0.82	.	13.3792	0.60759	0.0:0.0:0.0:1.0	.	509	Q9UQ05	KCNH4_HUMAN	R	509	ENSP00000264661:K509R	ENSP00000264661:K509R	K	-	2	0	0	KCNH4	37575085	37575085	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.067000	0.71193	1.744000	0.51775	0.379000	0.24179	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_012285			62	62		325	316	1		1			0	0	75	0		1	0	0	0	0	0	0	62	325
KCNH4	23415	broad.mit.edu	37	17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999533	0.990000	1.000000																										0				32						c.(334-336)gAc>gGc		potassium voltage-gated channel, subfamily H (eag-related), member 4							49.0	41.0	44.0					17																	40330471		2203	4300	6503	SO:0001583	missense	23415	0	0					g.chr17:40330471T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.335A>G	chr17.hg19:g.40330471T>C	ENSP00000264661:p.Asp112Gly	0					KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	p.D112G	NM_012285.2	NP_036417.1	1	2	3	2.015275	Q9UQ05	KCNH4_HUMAN		3	667	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000264661.3	1	1	hg19	c.335A>G	CCDS11420.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330240	0.81690	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.42682	D	0.000662	D	0.99638	0.9867	M	0.91459	3.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97871	1.0286	10	0.72032	D	0.01	.	12.0825	0.53680	0.0:0.0:0.143:0.8569	.	112	Q9UQ05	KCNH4_HUMAN	G	112	ENSP00000264661:D112G	ENSP00000264661:D112G	D	-	2	0	0	KCNH4	37583997	37583997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.520000	0.53465	2.090000	0.63153	0.460000	0.39030	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_012285			21	21		121	118	1		1	0		0	0	36	0		9.999982e-01	0	0	0	0	1	0	21	121
GHDC	84514	broad.mit.edu	37	17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000301671.8	-	3	802	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000428494.2_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	121						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				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)		CCAAGGTCCTGGTTTGAGGTC	0.592																																						ENST00000301671.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(361-363)Cag>Aag		GH3 domain containing							107.0	121.0	116.0					17																	40344950		2203	4300	6503	SO:0001583	missense	84514	0	0					g.chr17:40344950G>T	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.361C>A	chr17.hg19:g.40344950G>T	ENSP00000301671:p.Gln121Lys	0					GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron	p.Q121K			1	2	3	2.015275	Q8N2G8	GHDC_HUMAN		3	802	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	1	1	hg19	c.361C>A	CCDS11422.1	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.629075	0.28978	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.47	3.42	0.39159	4.47	3.42	0.39159	.	0.530530	0.17821	N	0.160851	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.02	B;B	0.21917	0.037;0.006	T	0.06935	-1.0799	9	0.22109	T	0.4	-2.9532	6.5711	0.22539	0.1327:0.0:0.8673:0.0	.	121;121	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	65;121;121;121	.	ENSP00000301671:Q121K	Q	-	1	0	0	GHDC	37598476	37598476	0.008000	0.16893	0.014000	0.15608	0.028000	0.11728	1.114000	0.31196	2.320000	0.78422	0.561000	0.74099	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	1	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-3.363262	1	0.170000	NM_032484			145	142		563	549	1		1	1		0	0	126	0		1	1	0	30	0	155	0	145	563
STAT5A	6776	broad.mit.edu	37	17	40452779	40452779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	ENST00000345506.4	+	9	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	294					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|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)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|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)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 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 mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|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 transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|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)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|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)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGCAGATCCGCAGGGCTGA	0.622																																						ENST00000345506.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				14						c.(880-882)Cgc>Tgc		signal transducer and activator of transcription 5A							40.0	33.0	36.0					17																	40452779		2202	4276	6478	SO:0001583	missense	6776	1	121378	22				g.chr17:40452779C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.880C>T	chr17.hg19:g.40452779C>T	ENSP00000341208:p.Arg294Cys	0					STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C	p.R294C	NM_003152.3	NP_003143.2	1	2	3	2.015275	P42229	STA5A_HUMAN		9	1522	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	0	1	hg19	c.880C>T	CCDS11424.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783579	0.70222	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.60548	0.18;0.18;0.18	4.39	3.3	0.37823	4.39	3.3	0.37823	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.061993	0.64402	D	0.000003	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71656	0.974;0.964;0.922	T	0.75758	-0.3205	10	0.87932	D	0	-19.3167	14.876	0.70493	0.154:0.846:0.0:0.0	.	264;296;294	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	294;264;296;294	ENSP00000341208:R294C;ENSP00000443107:R264C;ENSP00000400320:R294C	ENSP00000341208:R294C	R	+	1	0	0	STAT5A	37706305	37706305	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.775000	0.47702	1.984000	0.57885	0.306000	0.20318	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	0	0	1		2	2	2	0		0	0	31		31	67	1	2.060000	-18.247660	1	0.170000	NM_003152			35	31		197	177	0		1	1		0	0	31	0		1	9.974883e-01	0	13	0	42	0	35	197
STAT3	6774	broad.mit.edu	37	17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	719					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2155-2157)aGc>aAc		signal transducer and activator of transcription 3 (acute-phase response factor)							50.0	51.0	51.0					17																	40468908		2203	4300	6503	SO:0001583	missense	6774	0	0		Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	g.chr17:40468908C>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2156G>A	chr17.hg19:g.40468908C>T	ENSP00000264657:p.Ser719Asn	0					STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N	p.S719N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	1	2	3	2.015275	P40763	STAT3_HUMAN		23	2468	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	1	1	hg19	c.2156G>A	CCDS32656.1	1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156564	0.57259	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96651	-4.08;-4.08;-4.08	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.211503	0.49305	D	0.000154	D	0.91593	0.7344	N	0.14661	0.345	0.45718	D	0.998629	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	D	0.87653	0.2529	10	0.22706	T	0.39	-36.6963	18.6865	0.91567	0.0:1.0:0.0:0.0	.	718;719	P40763-2;P40763	.;STAT3_HUMAN	N	719;621;718	ENSP00000264657:S719N;ENSP00000373923:S621N;ENSP00000384943:S718N	ENSP00000264657:S719N	S	-	2	0	0	STAT3	37722434	37722434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.662000	0.90505	0.655000	0.94253	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_139276, NM_003150			73	68		206	199	1		1	1		0	0	70	0		1	1	0	139	0	397	0	73	206
PTRF	284119	broad.mit.edu	37	17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607																																						ENST00000357037.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(799-801)Cgg>Tgg		polymerase I and transcript release factor							123.0	109.0	113.0					17																	40557079		2203	4300	6503	SO:0001583	missense	284119	0	0					g.chr17:40557079G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.799C>T	chr17.hg19:g.40557079G>A	ENSP00000349541:p.Arg267Trp	0						p.R267W	NM_012232.5	NP_036364.2	1	2	3	2.015275				2	1218	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		Missense_Mutation	SNP	ENST00000357037.5	1	1	hg19	c.799C>T	CCDS11425.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340340	0.60963	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.66815	-0.23	5.81	3.64	0.41730	5.81	3.64	0.41730	.	0.150034	0.41823	D	0.000818	T	0.78233	0.4251	L	0.61218	1.895	0.36143	D	0.846923	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.85280	0.1061	10	0.87932	D	0	-14.7881	15.557	0.76203	0.0:0.0:0.6534:0.3466	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	267;222	ENSP00000349541:R267W	ENSP00000349541:R267W	R	-	1	2	2	PTRF	37810605	37810605	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.337000	0.52120	1.463000	0.47967	-0.289000	0.09944	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_012232			81	81		355	352	1		1	1		0	0	59	0		1	1	0	123	0	626	0	81	355
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	G	A	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672																																						ENST00000357037.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D204D(1)	prostate(1)	17						c.(610-612)gaC>gaT		polymerase I and transcript release factor							83.0	89.0	87.0					17																	40557266		2203	4300	6503	SO:0001819	synonymous_variant	284119	0	0					g.chr17:40557266G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	chr17.hg19:g.40557266G>A		0						p.D204D	NM_012232.5	NP_036364.2	1	2	3	2.015275				2	1031	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		Silent	SNP	ENST00000357037.5	1	1	hg19	c.612C>T	CCDS11425.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	1	0	1		2	2	2	0		0	0	197		197	194	1	2.060000	-20.000000	1	0.170000	NM_012232			260	253		1013	994	0		1	1		0	0	197	0		1	1	0	95	0	427	0	260	1013
ATP6V0A1	535	broad.mit.edu	37	17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	79					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.I79N(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)		AACATTCCGATTATGGACACC	0.393																																						ENST00000343619.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.I79N(1)	endometrium(1)	26						c.(235-237)aTt>aGt		ATPase, H+ transporting, lysosomal V0 subunit a1							96.0	94.0	95.0					17																	40620067		2203	4300	6503	SO:0001583	missense	535	0	0					g.chr17:40620067T>G	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.236T>G	chr17.hg19:g.40620067T>G	ENSP00000342951:p.Ile79Ser	0					ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S	p.I79S	NM_001130021.1	NP_001123493.1	1	2	3	2.015275	Q93050	VPP1_HUMAN		4	359	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	1	1	hg19	c.236T>G	CCDS45684.1	1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671138	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.153144	0.56097	D	0.000022	D	0.88433	0.6435	M	0.73962	2.25	0.80722	D	1	B;P;P;P;P;P	0.45240	0.343;0.494;0.621;0.629;0.854;0.567	P;B;P;B;P;P	0.47299	0.474;0.371;0.493;0.243;0.543;0.462	D	0.89748	0.3938	10	0.87932	D	0	-25.0355	16.4943	0.84223	0.0:0.0:0.0:1.0	.	79;79;79;79;79;79	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	S	79	ENSP00000342951:I79S;ENSP00000444676:I79S;ENSP00000377415:I79S;ENSP00000264649:I79S;ENSP00000443991:I79S	ENSP00000264649:I79S	I	+	2	0	0	ATP6V0A1	37873593	37873593	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	4.899000	0.63245	2.291000	0.77112	0.533000	0.62120	ATT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_001130020			53	52		233	228	1		1	1		0	0	53	0		1	9.999997e-01	0	19	0	83	0	53	233
ATP6V0A1	535	broad.mit.edu	37	17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	413					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)			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)		TTCGGTCATGGCATTTTAATG	0.388																																						ENST00000343619.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1237-1239)gGc>gAc		ATPase, H+ transporting, lysosomal V0 subunit a1							186.0	166.0	173.0					17																	40646415		2203	4300	6503	SO:0001583	missense	535	0	0					g.chr17:40646415G>A	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.1238G>A	chr17.hg19:g.40646415G>A	ENSP00000342951:p.Gly413Asp	0					MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D	p.G413D	NM_001130021.1	NP_001123493.1	1	2	3	2.015275	Q93050	VPP1_HUMAN		12	1361	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	1	1	hg19	c.1238G>A	CCDS45684.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.419759	0.96111	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.98199	4.17	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	0.99437	1.0937	10	0.87932	D	0	-13.4495	19.6278	0.95687	0.0:0.0:1.0:0.0	.	370;370;420;413;413	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	D	413;413;413;420;370;59	ENSP00000342951:G413D;ENSP00000444676:G413D;ENSP00000377415:G413D;ENSP00000264649:G420D;ENSP00000443991:G370D;ENSP00000446377:G59D	ENSP00000264649:G420D	G	+	2	0	0	ATP6V0A1	37899941	37899941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.801000	0.99128	2.646000	0.89796	0.561000	0.74099	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_001130020			74	73		317	312	1		1	1		0	0	82	0		1	9.999937e-01	0	23	0	54	0	74	317
ATP6V0A1	535	broad.mit.edu	37	17	40660601	40660601	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000393829.2_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					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)			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)		CTTCCGAGGACGAAGTGGTAA	0.527																																						ENST00000343619.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2122-2124)gaC>gaT		ATPase, H+ transporting, lysosomal V0 subunit a1							166.0	145.0	152.0					17																	40660601		1568	3582	5150	SO:0001819	synonymous_variant	535	6	120730	38				g.chr17:40660601C>T	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.2124C>T	chr17.hg19:g.40660601C>T		0					ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000393829.2_Intron|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron	p.D708D	NM_001130021.1	NP_001123493.1	1	2	3	2.015275	Q93050	VPP1_HUMAN		19	2247	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	1	1	hg19	c.2124C>T	CCDS45684.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_001130020			61	60		298	290	0		1	0		0	0	73	0		1	7.872138e-02	0	0	0	3	0	61	298
NAGLU	4669	broad.mit.edu	37	17	40695695	40695695	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	557					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)			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)	CCGCCTTCCGCTACGACCTGC	0.607																																						ENST00000225927.2	1.000000	0.540000	1	7.100000e-01	0.930000	0.882499	0.930000	1.000000																										0				12						c.(1669-1671)cgC>cgA		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						28.0	26.0	27.0					17																	40695695		2198	4288	6486	SO:0001819	synonymous_variant	4669	0	0					g.chr17:40695695C>A		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.1671C>A	chr17.hg19:g.40695695C>A		0					RP11-400F19.8_ENST00000585572.1_RNA	p.R557R	NM_000263.3	NP_000254.2	1	2	3	2.015275	P54802	ANAG_HUMAN		6	1772	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		Silent	SNP	ENST00000225927.2	1	1	hg19	c.1671C>A	CCDS11427.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-19.816080	1	0.170000	NM_000263			15	15		183	177	0		1	1		0	0	29	0		9.998631e-01	9.999886e-01	0	20	0	240	0	15	183
NAGLU	4669	broad.mit.edu	37	17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	635					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)			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)	GAGGCCGAGGCCGATTTCTAC	0.642																																						ENST00000225927.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.992055	0.990000	1.000000																										0				12						c.(1903-1905)gCc>gTc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						24.0	21.0	22.0					17																	40695928		2202	4296	6498	SO:0001583	missense	4669	0	0					g.chr17:40695928C>T		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.1904C>T	chr17.hg19:g.40695928C>T	ENSP00000225927:p.Ala635Val	0					RP11-400F19.8_ENST00000585572.1_RNA	p.A635V	NM_000263.3	NP_000254.2	1	2	3	2.015275	P54802	ANAG_HUMAN		6	2005	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		Missense_Mutation	SNP	ENST00000225927.2	0	1	hg19	c.1904C>T	CCDS11427.1	1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469090	0.63625	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98717	-5.09	4.69	2.56	0.30785	4.69	2.56	0.30785	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.109437	0.64402	D	0.000007	D	0.98235	0.9416	M	0.73962	2.25	0.47547	D	0.999454	D	0.52996	0.957	P	0.52823	0.71	D	0.96897	0.9657	10	0.30078	T	0.28	-17.0091	13.5916	0.61964	0.0:0.7022:0.2978:0.0	.	635	P54802	ANAG_HUMAN	V	635;311	ENSP00000225927:A635V	ENSP00000225927:A635V	A	+	2	0	0	NAGLU	37949454	37949454	1.000000	0.71417	0.830000	0.32933	0.741000	0.42261	4.670000	0.61583	0.633000	0.30452	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.216600	1	0.170000	NM_000263			11	10		71	70	1		1	1		0	0	9	0		9.985309e-01	9.999999e-01	0	81	0	219	0	11	71
NAGLU	4669	broad.mit.edu	37	17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	687					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)			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)	TGACAGTGTGGCCCAGGGCAT	0.587																																						ENST00000225927.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(2059-2061)Gcc>Tcc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						46.0	43.0	44.0					17																	40696083		2203	4300	6503	SO:0001583	missense	4669	0	0					g.chr17:40696083G>T		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.2059G>T	chr17.hg19:g.40696083G>T	ENSP00000225927:p.Ala687Ser	0					RP11-400F19.8_ENST00000585572.1_RNA	p.A687S	NM_000263.3	NP_000254.2	1	2	3	2.015275	P54802	ANAG_HUMAN		6	2160	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		Missense_Mutation	SNP	ENST00000225927.2	1	1	hg19	c.2059G>T	CCDS11427.1	1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565416	0.03939	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98585	-5.01	5.03	4.07	0.47477	5.03	4.07	0.47477	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.641663	0.15989	N	0.234907	D	0.93314	0.7869	N	0.22421	0.69	0.23546	N	0.997445	P	0.34837	0.472	B	0.31946	0.138	D	0.86859	0.2028	10	0.09338	T	0.73	-17.5316	7.2747	0.26277	0.2614:0.0:0.7386:0.0	.	687	P54802	ANAG_HUMAN	S	687;363	ENSP00000225927:A687S	ENSP00000225927:A687S	A	+	1	0	0	NAGLU	37949609	37949609	0.881000	0.30235	0.838000	0.33150	0.289000	0.27227	1.467000	0.35321	1.274000	0.44362	0.555000	0.69702	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_000263			35	35		97	97	1		1	1		0	0	26	0		1	1	0	55	0	201	0	35	97
HSD17B1	3292	broad.mit.edu	37	17	40706547	40706547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40706547C>T	ENST00000585807.1	+	5	4384	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	222					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	ATACCTCGCCCACAGCAAGCA	0.657																																						ENST00000585807.1	1.000000	0.120000	5.800000e-01	2.100000e-01	0.340000	0.414354	0.340000	0.300000																										0				5						c.(664-666)Cac>Tac		hydroxysteroid (17-beta) dehydrogenase 1	Equilin(DB02187)						61.0	45.0	51.0					17																	40706547		2203	4300	6503	SO:0001583	missense	3292	0	0					g.chr17:40706547C>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.664C>T	chr17.hg19:g.40706547C>T	ENSP00000466799:p.His222Tyr	0					RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y	p.H222Y	NM_000413.2	NP_000404.2	1	2	3	2.015275	P14061	DHB1_HUMAN		5	4384	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	0	1	hg19	c.664C>T	CCDS11428.1	0	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522978	0.44866	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.02	3.02	0.34903	4.02	3.02	0.34903	NAD(P)-binding domain (1);	0.244344	0.40469	N	0.001096	T	0.54431	0.1858	L	0.31371	0.925	0.36520	D	0.870089	D;B	0.76494	0.999;0.065	D;B	0.64506	0.926;0.018	T	0.59925	-0.7362	9	0.46703	T	0.11	.	9.1585	0.37007	0.0:0.7638:0.2362:0.0	.	253;222	B3RFR9;P14061	.;DHB1_HUMAN	Y	222	.	ENSP00000225929:H222Y	H	+	1	0	0	HSD17B1	37960073	37960073	0.079000	0.21365	0.014000	0.15608	0.003000	0.03518	0.645000	0.24782	0.858000	0.35431	0.491000	0.48974	CAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.414625	1	0.170000	NM_000413			5	5		191	189	0		1	0		0	0	21	0		9.366587e-01	3.560027e-01	0	1	0	41	0	5	191
TUBG1	7283	broad.mit.edu	37	17	40766320	40766320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40766320C>T	ENST00000251413.3	+	9	948	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	296					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGTCATGAGGCGGCTGCTGCA	0.622																																					Colon(20;114 698 11420 22864)	ENST00000251413.3	1.000000	0.120000	4.400000e-01	1.900000e-01	0.280000	0.355231	0.280000	0.260000																										0				12						c.(886-888)Cgg>Tgg		tubulin, gamma 1	Vinblastine(DB00570)						66.0	63.0	64.0					17																	40766320		2203	4298	6501	SO:0001583	missense	7283	0	0					g.chr17:40766320C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.886C>T	chr17.hg19:g.40766320C>T	ENSP00000251413:p.Arg296Trp	0						p.R296W	NM_001070.4	NP_001061.2	1	2	3	2.015275	P23258	TBG1_HUMAN		9	948	+		Breast(137;0.00116)	Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	0	1	hg19	c.886C>T	CCDS11433.1	0	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734503	0.30774	.	.	ENSG00000131462	ENST00000251413	D	0.85339	-1.97	4.38	-0.343	0.12632	4.38	-0.343	0.12632	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.97214	3.96	0.58432	D	0.999998	D	0.60575	0.988	P	0.50109	0.631	D	0.94041	0.7309	10	0.87932	D	0	-13.9457	15.5442	0.76081	0.6976:0.3024:0.0:0.0	.	296	P23258	TBG1_HUMAN	W	296	ENSP00000251413:R296W	ENSP00000251413:R296W	R	+	1	2	2	TUBG1	38019846	38019846	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	1.122000	0.31295	-0.163000	0.10946	0.563000	0.77884	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	0	0	1		2	2	2	0		0	0	82		82	98	1	2.060000	-3.069436	1	0.170000	NM_001070			8	8		359	337	0		1	1		0	0	82	0		9.866115e-01	7.836838e-01	0	4	0	127	0	8	359
PLEKHH3	79990	broad.mit.edu	37	17	40823517	40823517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40823517G>A	ENST00000591022.1	-	8	1523	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A379V	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	379	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCGGCCCAGCGCTTTCCGGAT	0.647																																						ENST00000591022.1	1.000000	0.230000	8.400000e-01	3.600000e-01	0.540000	0.589173	0.540000	0.490000																										0				13						c.(1135-1137)gCg>gTg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							22.0	22.0	22.0					17																	40823517		2202	4300	6502	SO:0001583	missense	79990	0	0					g.chr17:40823517G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1136C>T	chr17.hg19:g.40823517G>A	ENSP00000468678:p.Ala379Val	0					PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V	p.A379V	NM_024927.4	NP_079203	1	2	3	2.015275	Q7Z736	PKHH3_HUMAN		8	1523	-		Breast(137;0.00116)	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	0	1	hg19	c.1136C>T	CCDS11434.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.826876	0.96996	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.92149	-2.98;-2.98	4.7	4.7	0.59300	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.95598	0.8569	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96001	0.8993	10	0.62326	D	0.03	-21.402	17.2756	0.87114	0.0:0.0:1.0:0.0	.	379;379	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	41;379;379	ENSP00000293349:A379V;ENSP00000411885:A379V	ENSP00000293349:A379V	A	-	2	0	0	PLEKHH3	38077043	38077043	1.000000	0.71417	0.859000	0.33776	0.972000	0.66771	9.813000	0.99286	2.166000	0.68216	0.561000	0.74099	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-9.687661	1	0.170000	NM_024927			7	7		160	155	0		1	0		0	0	22	0		9.791487e-01	6.330736e-01	0	1	0	47	0	7	160
CCR10	2826	broad.mit.edu	37	17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000332438.4	-	2	810	c.791G>T	c.(790-792)aGc>aTc	p.S264I	CNTNAP1_ENST00000264638.4_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.S42I	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	264					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)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721																																						ENST00000332438.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999833	0.990000	1.000000																										0				3						c.(790-792)aGc>aTc		chemokine (C-C motif) receptor 10							9.0	10.0	10.0					17																	40831869		2149	4219	6368	SO:0001583	missense	2826	0	0					g.chr17:40831869C>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.791G>T	chr17.hg19:g.40831869C>A	ENSP00000332504:p.Ser264Ile	0					CCR10_ENST00000591765.1_Missense_Mutation_p.S42I|PLEKHH3_ENST00000293349.6_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank	p.S264I	NM_016602.2	NP_057686.2	1	2	3	2.015275	P46092	CCR10_HUMAN		2	810	-		Breast(137;0.000153)	Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	1	1	hg19	c.791G>T	CCDS11435.1	1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865068	0.71949	.	.	ENSG00000184451	ENST00000332438	T	0.37235	1.21	4.24	4.24	0.50183	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.41305	0.1153	L	0.46157	1.445	0.31084	N	0.711548	P	0.47191	0.891	P	0.51266	0.664	T	0.50466	-0.8825	10	0.87932	D	0	.	10.7503	0.46205	0.0:0.6747:0.3253:0.0	.	264	P46092	CCR10_HUMAN	I	264	ENSP00000332504:S264I	ENSP00000332504:S264I	S	-	2	0	0	CCR10	38085395	38085395	0.637000	0.27216	1.000000	0.80357	0.986000	0.74619	0.690000	0.25451	2.192000	0.70111	0.462000	0.41574	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_016602			19	19		92	91	0		1	0		0	0	14	0		9.999946e-01	4.856907e-01	0	0	0	9	0	19	92
ANKFY1	51479	broad.mit.edu	37	17	4085524	4085524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	691	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				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)			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						CAAGCCACAGCGGGGGGTTCC	0.542																																						ENST00000341657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2071-2073)ccG>ccA		ankyrin repeat and FYVE domain containing 1							118.0	119.0	119.0					17																	4085524		2012	4164	6176	SO:0001819	synonymous_variant	51479	0	0					g.chr17:4085524C>T	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.2073G>A	chr17.hg19:g.4085524C>T		0					ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P|ANKFY1_ENST00000573722.1_5'Flank|CYB5D2_ENST00000573984.1_Intron	p.P691P	NM_016376.3	NP_057460.3	1	2	3	2.017774	Q9P2R3	ANFY1_HUMAN		15	2108	-			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	1	1	hg19	c.2073G>A		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	1	0	1		2	4	2	1		1	0	133		133	130	1	2.060000	-2.490663	0	0.170000	NM_016376			148	143		586	577	1		1	1		1	0	133	0		1	9.999847e-01	0	14	0	72	0	148	586
CNTNAP1	8506	broad.mit.edu	37	17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	200					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)			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)		GGACGTGTTCGCCTTCAGCTT	0.642																																						ENST00000264638.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(598-600)Gcc>Acc		contactin associated protein 1							104.0	87.0	93.0					17																	40837321		2203	4300	6503	SO:0001583	missense	8506	0	0					g.chr17:40837321G>A	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.598G>A	chr17.hg19:g.40837321G>A	ENSP00000264638:p.Ala200Thr	0					CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	p.A200T	NM_003632.2	NP_003623.1	1	2	3	2.015275	P78357	CNTP1_HUMAN		5	815	+		Breast(137;0.000143)		Missense_Mutation	SNP	ENST00000264638.4	1	1	hg19	c.598G>A	CCDS11436.1	1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480734	0.63849	.	.	ENSG00000108797	ENST00000264638	T	0.78816	-1.21	5.11	4.11	0.48088	5.11	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.284951	0.29466	N	0.012079	T	0.62085	0.2399	L	0.29908	0.895	0.38646	D	0.951717	D	0.53312	0.959	B	0.38225	0.268	T	0.63001	-0.6734	10	0.34782	T	0.22	.	9.6221	0.39727	0.0:0.1434:0.6871:0.1696	.	200	P78357	CNTP1_HUMAN	T	200	ENSP00000264638:A200T	ENSP00000264638:A200T	A	+	1	0	0	CNTNAP1	38090847	38090847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.834000	0.55798	1.069000	0.40788	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_003632			93	93		325	320	1		1	1		0	0	73	0		1	9.306601e-01	0	4	0	14	0	93	325
VPS25	84313	broad.mit.edu	37	17	40926673	40926673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40926673C>A	ENST00000253794.2	+	3	249	c.209C>A	c.(208-210)cCt>cAt	p.P70H		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	70					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GGAAAGCTTCCTGTGGAGTCG	0.453																																						ENST00000253794.2	1.000000	0.120000	5.600000e-01	2.100000e-01	0.330000	0.406720	0.330000	0.290000																										0				5						c.(208-210)cCt>cAt		vacuolar protein sorting 25 homolog (S. cerevisiae)							116.0	111.0	113.0					17																	40926673		2203	4300	6503	SO:0001583	missense	84313	0	0					g.chr17:40926673C>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.209C>A	chr17.hg19:g.40926673C>A	ENSP00000253794:p.Pro70His	0						p.P70H	NM_032353.2	NP_115729.1	1	2	3	2.015275	Q9BRG1	VPS25_HUMAN		3	249	+		Breast(137;0.00104)	B2R581	Missense_Mutation	SNP	ENST00000253794.2	0	1	hg19	c.209C>A	CCDS11438.1	0	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789884	0.90367	.	.	ENSG00000131475	ENST00000253794	T	0.44881	0.91	4.92	4.92	0.64577	4.92	4.92	0.64577	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.059687	0.64402	D	0.000001	T	0.58481	0.2125	M	0.74881	2.28	0.48830	D	0.999715	D	0.57571	0.98	P	0.53360	0.724	T	0.64597	-0.6370	10	0.66056	D	0.02	-6.362	18.2978	0.90153	0.0:1.0:0.0:0.0	.	70	Q9BRG1	VPS25_HUMAN	H	70	ENSP00000253794:P70H	ENSP00000253794:P70H	P	+	2	0	0	VPS25	38180199	38180199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.964000	0.76061	2.559000	0.86315	0.655000	0.94253	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	0	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-3.024895	1	0.170000	NM_032353			5	5		196	192	0		1	1		0	0	42	0		9.349848e-01	9.926411e-01	0	10	0	382	0	5	196
WNK4	65266	broad.mit.edu	37	17	40936549	40936549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGAGTACCCGTACTCCGAGT	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5	1.000000	0.420000	1	5.800000e-01	0.790000	0.791246	0.790000	1.000000																										0				35						c.(1120-1122)ccG>ccA		WNK lysine deficient protein kinase 4							90.0	72.0	78.0					17																	40936549		2203	4300	6503	SO:0001819	synonymous_variant	65266	1	121412	15				g.chr17:40936549G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1122G>A	chr17.hg19:g.40936549G>A		0						p.P374P	NM_032387.4	NP_115763.2	1	2	3	2.015275	Q96J92	WNK4_HUMAN		4	1143	+		Breast(137;0.000143)	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	1	1	hg19	c.1122G>A	CCDS11439.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-14.671220	1	0.170000				11	11		162	162	0		1	0		0	0	43	0		9.985043e-01	0	0	0	0	1	0	11	162
WNK4	65266	broad.mit.edu	37	17	40939316	40939316	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	499					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				35						c.(1495-1497)tgT>tgC		WNK lysine deficient protein kinase 4							50.0	51.0	50.0					17																	40939316		2203	4300	6503	SO:0001819	synonymous_variant	65266	0	0					g.chr17:40939316T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1497T>C	chr17.hg19:g.40939316T>C		0					WNK4_ENST00000587705.1_3'UTR	p.C499C	NM_032387.4	NP_115763.2	1	2	3	2.015275	Q96J92	WNK4_HUMAN		7	1518	+		Breast(137;0.000143)	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	1	1	hg19	c.1497T>C	CCDS11439.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1		2	2	2	0		0	0	57		57	53	1	2.060000	-20.000000	1	0.170000				39	39		215	212	1		1			0	0	57	0		1	0	0	0	0	0	0	39	215
WNK4	65266	broad.mit.edu	37	17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	668					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(2002-2004)Ctc>Atc		WNK lysine deficient protein kinase 4							46.0	47.0	47.0					17																	40940387		2203	4300	6503	SO:0001583	missense	65266	0	0					g.chr17:40940387C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2002C>A	chr17.hg19:g.40940387C>A	ENSP00000246914:p.Leu668Ile	0					WNK4_ENST00000587705.1_3'UTR	p.L668I	NM_032387.4	NP_115763.2	1	2	3	2.015275	Q96J92	WNK4_HUMAN		10	2023	+		Breast(137;0.000143)	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	1	1	hg19	c.2002C>A	CCDS11439.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368188	0.42003	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.26373	1.74	5.35	4.37	0.52481	5.35	4.37	0.52481	.	0.324291	0.22432	N	0.060131	T	0.19927	0.0479	L	0.34521	1.04	0.30195	N	0.799179	B;B;B;B	0.27351	0.11;0.176;0.11;0.11	B;B;B;B	0.26202	0.046;0.067;0.016;0.03	T	0.09207	-1.0685	10	0.20046	T	0.44	-9.3155	14.022	0.64560	0.164:0.836:0.0:0.0	.	12;668;668;668	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	I	668;440;12	ENSP00000246914:L668I	ENSP00000246914:L668I	L	+	1	0	0	WNK4	38193913	38193913	0.214000	0.23563	0.998000	0.56505	0.947000	0.59692	2.077000	0.41557	1.217000	0.43442	-0.425000	0.05940	CTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				43	42		233	232	1		1			0	0	46	0		1	0	0	0	0	0	0	43	233
WNK4	65266	broad.mit.edu	37	17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1011					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(3031-3033)Ccg>Tcg		WNK lysine deficient protein kinase 4							79.0	79.0	79.0					17																	40947651		2203	4300	6503	SO:0001583	missense	65266	0	0					g.chr17:40947651C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3031C>T	chr17.hg19:g.40947651C>T	ENSP00000246914:p.Pro1011Ser	0						p.P1011S	NM_032387.4	NP_115763.2	1	2	3	2.015275	Q96J92	WNK4_HUMAN		16	3052	+		Breast(137;0.000143)	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	1	1	hg19	c.3031C>T	CCDS11439.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489984	0.44249	.	.	ENSG00000126562	ENST00000246914	D	0.83075	-1.68	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.47455	D	0.000223	D	0.82277	0.5002	L	0.42245	1.32	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.158	D	0.84168	0.0432	10	0.66056	D	0.02	-22.9051	18.1118	0.89538	0.0:1.0:0.0:0.0	.	1011;1011	Q96J92-3;Q96J92	.;WNK4_HUMAN	S	1011	ENSP00000246914:P1011S	ENSP00000246914:P1011S	P	+	1	0	0	WNK4	38201177	38201177	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.574000	0.46016	2.720000	0.93068	0.491000	0.48974	CCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000				73	71		330	323	1		1	0		0	0	81	0		1	3.375296e-02	0	0	0	2	0	73	330
CNTD1	124817	broad.mit.edu	37	17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588408.1	+	1	373	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	33	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632																																						ENST00000588408.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(97-99)Gcc>Tcc		cyclin N-terminal domain containing 1							45.0	43.0	44.0					17																	40951182		2203	4300	6503	SO:0001583	missense	124817	0	0					g.chr17:40951182G>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.97G>T	chr17.hg19:g.40951182G>T	ENSP00000465204:p.Ala33Ser	0					COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	p.A33S	NM_173478.2	NP_775749.2	1	2	3	2.015275	Q8N815	CNTD1_HUMAN		1	373	+		Breast(137;0.00104)	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	1	1	hg19	c.97G>T	CCDS11440.1	1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890450	0.52014	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	5.04	0.67666	5.04	5.04	0.67666	Cyclin-like (1);	0.254806	0.39146	N	0.001455	T	0.58552	0.2130	M	0.61703	1.905	0.80722	D	1	B	0.26876	0.162	B	0.18871	0.023	T	0.57219	-0.7849	9	0.37606	T	0.19	-2.1701	15.0029	0.71489	0.0:0.0:0.8574:0.1426	.	33	Q8N815	CNTD1_HUMAN	S	33	.	ENSP00000316647:A33S	A	+	1	0	0	CNTD1	38204708	38204708	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.244000	0.58728	2.629000	0.89072	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_173478			48	48		226	224	1		1	0		0	0	49	0		1	0	0	0	0	1	0	48	226
CNTD1	124817	broad.mit.edu	37	17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588408.1	+	5	989	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	238										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517																																						ENST00000588408.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(712-714)aGt>aAt		cyclin N-terminal domain containing 1							86.0	75.0	79.0					17																	40958824		2203	4300	6503	SO:0001583	missense	124817	1	121412	26				g.chr17:40958824G>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.713G>A	chr17.hg19:g.40958824G>A	ENSP00000465204:p.Ser238Asn	0					CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	p.S238N	NM_173478.2	NP_775749.2	1	2	3	2.015275	Q8N815	CNTD1_HUMAN		5	989	+		Breast(137;0.00104)	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	1	1	hg19	c.713G>A	CCDS11440.1	1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598277	0.66332	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.49	4.44	0.53790	5.49	4.44	0.53790	.	0.202434	0.53938	D	0.000060	T	0.44891	0.1315	M	0.61703	1.905	0.26487	N	0.97502	P	0.47106	0.89	P	0.45232	0.474	T	0.48198	-0.9056	9	0.59425	D	0.04	-10.6058	12.565	0.56304	0.0:0.1175:0.7473:0.1352	.	238	Q8N815	CNTD1_HUMAN	N	238	.	ENSP00000316647:S238N	S	+	2	0	0	CNTD1	38212350	38212350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.207000	0.32333	2.568000	0.86640	0.557000	0.71058	AGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_173478			49	47		215	214	1		1			0	0	56	0		1	0	0	0	0	0	0	49	215
AOC2	314	broad.mit.edu	37	17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	124					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667																																						ENST00000253799.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(370-372)Gtc>Atc		amine oxidase, copper containing 2 (retina-specific)							33.0	32.0	32.0					17																	40997013		2203	4299	6502	SO:0001583	missense	314	1	121398	34				g.chr17:40997013G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.370G>A	chr17.hg19:g.40997013G>A	ENSP00000253799:p.Val124Ile	0					AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	p.V124I	NM_009590.2	NP_033720.2	1	2	3	2.015275	O75106	AOC2_HUMAN		1	397	+		Breast(137;0.000143)	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	1	1	hg19	c.370G>A	CCDS11443.1	1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090357	0.01873	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.35789	1.29;1.29	5.01	2.57	0.30868	5.01	2.57	0.30868	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.221172	0.37136	N	0.002238	T	0.14184	0.0343	N	0.05510	-0.035	0.40249	D	0.978047	B;B	0.28820	0.076;0.224	B;B	0.23574	0.03;0.047	T	0.09907	-1.0653	10	0.10902	T	0.67	-53.025	6.7767	0.23624	0.2025:0.1471:0.6504:0.0	.	124;124	O75106;O75106-2	AOC2_HUMAN;.	I	124	ENSP00000253799:V124I;ENSP00000406134:V124I	ENSP00000253799:V124I	V	+	1	0	0	AOC2	38250539	38250539	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	1.953000	0.40352	0.448000	0.26722	-0.253000	0.11424	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_009590, NM_001158			86	83		299	291	1		1	0		0	0	55	0		1	5.098697e-02	0	0	0	2	0	86	299
AOC3	8639	broad.mit.edu	37	17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	rs150410758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	352					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)			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)	GATCTTTGACGTTCGCTTCCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19346	0.001		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1054-1056)Gtt>Att		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	70.0	68.0	68.0		1054	-1.3	0.9	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	AOC3	NM_003734.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	352/764	41004414	3,13003	2203	4300	6503	SO:0001583	missense	8639	36	121412	47				g.chr17:41004414G>A	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.1054G>A	chr17.hg19:g.41004414G>A	ENSP00000312326:p.Val352Ile	0					AOC3_ENST00000591562.1_5'Flank	p.V352I	NM_003734.2	NP_003725.1	1	2	3	2.015275	Q16853	AOC3_HUMAN		1	1214	+		Breast(137;0.000143)	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	1	1	hg19	c.1054G>A	CCDS11444.1	1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132261	0.06753	6.81E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04360	3.64	4.4	-1.33	0.09172	4.4	-1.33	0.09172	Copper amine oxidase, C-terminal (3);	0.348573	0.27896	N	0.017406	T	0.01523	0.0049	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49934	-0.8886	10	0.06757	T	0.87	.	5.6195	0.17450	0.5422:0.1375:0.3203:0.0	.	352	Q16853	AOC3_HUMAN	I	352	ENSP00000312326:V352I	ENSP00000312326:V352I	V	+	1	0	0	AOC3	38257940	38257940	0.307000	0.24500	0.895000	0.35142	0.774000	0.43823	0.083000	0.14871	-0.216000	0.10048	0.591000	0.81541	GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	1	0	1		2	2	2	0		0	0	77		77	78	1	2.060000	-3.705479	1	0.170000	NM_003734			69	69		301	297	1		1	0		0	0	77	0		1	1	0	0	0	171	0	69	301
AOC3	8639	broad.mit.edu	37	17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	531					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)			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)	GGTGGATCTGGATGTAGCAGG	0.502																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1591-1593)Gat>Aat		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						45.0	42.0	43.0					17																	41004951		2203	4300	6503	SO:0001583	missense	8639	0	0					g.chr17:41004951G>A	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.1591G>A	chr17.hg19:g.41004951G>A	ENSP00000312326:p.Asp531Asn	0					AOC3_ENST00000591562.1_5'Flank	p.D531N	NM_003734.2	NP_003725.1	1	2	3	2.015275	Q16853	AOC3_HUMAN		1	1751	+		Breast(137;0.000143)	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	1	1	hg19	c.1591G>A	CCDS11444.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042693	0.75732	.	.	ENSG00000131471	ENST00000308423	T	0.04502	3.61	5.26	5.26	0.73747	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.49607	T	0.09	.	19.2423	0.93888	0.0:0.0:1.0:0.0	.	531	Q16853	AOC3_HUMAN	N	531	ENSP00000312326:D531N	ENSP00000312326:D531N	D	+	1	0	0	AOC3	38258477	38258477	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.821000	0.99360	2.638000	0.89438	0.655000	0.94253	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003734			48	48		196	189	1		1	0		0	0	57	0		1	1	0	0	0	179	0	48	196
AARSD1	80755	broad.mit.edu	37	17	41116151	41116151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	ENST00000427569.2	-	2	178	c.143C>T	c.(142-144)aCa>aTa	p.T48I	AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	48					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAAAGCACTGTGTCTTCCAG	0.582																																						ENST00000427569.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(142-144)aCa>aTa		alanyl-tRNA synthetase domain containing 1							124.0	107.0	113.0					17																	41116151		2203	4300	6503	SO:0001583	missense	80755	0	0					g.chr17:41116151G>A	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.143C>T	chr17.hg19:g.41116151G>A	ENSP00000400870:p.Thr48Ile	0					PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I|AARSD1_ENST00000416949.1_5'UTR	p.T48I	NM_001261434.1	NP_001248363.1	1	2	3	2.015275	Q9BTE6	AASD1_HUMAN		2	178	-		Breast(137;0.00499)	B4DI73	Missense_Mutation	SNP	ENST00000427569.2	1	0	hg19	c.143C>T	CCDS58552.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126002|5.126002	0.94429|0.94429	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|D;D;D;D;D	.|0.88586	.|-2.4;-2.4;-2.4;-2.4;-2.4	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.064498	.|0.64402	.|D	.|0.000008	.|D	.|0.96895	.|0.8986	H|H	0.98682|0.98682	4.3|4.3	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.996;0.998;0.998;0.998;1.0	.|D;D;D;D;D	.|0.81914	.|0.943;0.984;0.984;0.979;0.995	.|D	.|0.98556	.|1.0639	.|9	.|0.87932	.|D	.|0	-15.2197|-15.2197	17.5942|17.5942	0.88006|0.88006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;222;131;179;48	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|I	54|161;222;222;48;131	.|ENSP00000353355:T161I;ENSP00000386621:T222I;ENSP00000409924:T222I;ENSP00000400870:T48I;ENSP00000386254:T131I	.|ENSP00000353355:T161I	Q|T	-|-	1|2	0|0	0|0	AARSD1|AARSD1	38369677|38369677	38369677|38369677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	8.878000|8.878000	0.92393|0.92393	2.497000|2.497000	0.84241|0.84241	0.442000|0.442000	0.29010|0.29010	CAG|ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_001261434			87	85		371	360	1		1	1		0	0	102	0		1	9.999998e-01	0	32	0	65	0	87	371
RUNDC1	146923	broad.mit.edu	37	17	41141438	41141438	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41141438T>C	ENST00000361677.1	+	3	750	c.738T>C	c.(736-738)cgT>cgC	p.R246R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	246										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAGAGCTTCGTCAGCGTGTAG	0.458																																						ENST00000361677.1	1.000000	0.130000	4.900000e-01	2.000000e-01	0.310000	0.380400	0.310000	0.280000																										0				8						c.(736-738)cgT>cgC		RUN domain containing 1							109.0	93.0	99.0					17																	41141438		2203	4300	6503	SO:0001819	synonymous_variant	146923	0	0					g.chr17:41141438T>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.738T>C	chr17.hg19:g.41141438T>C		0						p.R246R	NM_173079.2	NP_775102	1	2	3	2.015275	Q96C34	RUND1_HUMAN		3	750	+		Breast(137;0.00499)	Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	0	1	hg19	c.738T>C	CCDS11448.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.396486	1	0.170000	NM_173079			7	7		289	286	0		1	1		0	0	66	0		9.802306e-01	6.024751e-01	0	2	0	78	0	7	289
RUNDC1	146923	broad.mit.edu	37	17	41143294	41143294	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41143294A>T	ENST00000361677.1	+	5	1415	c.1403A>T	c.(1402-1404)gAg>gTg	p.E468V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	468	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGGCCCCAGAGGCCATGCAC	0.587																																						ENST00000361677.1	1.000000	0.170000	5.100000e-01	2.400000e-01	0.340000	0.407700	0.340000	0.320000																										0				8						c.(1402-1404)gAg>gTg		RUN domain containing 1							59.0	58.0	58.0					17																	41143294		2203	4300	6503	SO:0001583	missense	146923	0	0					g.chr17:41143294A>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1403A>T	chr17.hg19:g.41143294A>T	ENSP00000354622:p.Glu468Val	0						p.E468V	NM_173079.2	NP_775102	1	2	3	2.015275	Q96C34	RUND1_HUMAN		5	1415	+		Breast(137;0.00499)	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	0	1	hg19	c.1403A>T	CCDS11448.1	0	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879132	0.33162	.	.	ENSG00000198863	ENST00000361677	T	0.18502	2.21	4.92	4.92	0.64577	4.92	4.92	0.64577	RUN (2);	0.266944	0.37955	N	0.001880	T	0.06645	0.0170	N	0.08118	0	0.37927	D	0.931873	P	0.38677	0.642	B	0.25614	0.062	T	0.37911	-0.9685	10	0.32370	T	0.25	-24.4041	9.4733	0.38856	0.9171:0.0:0.0829:0.0	.	468	Q96C34	RUND1_HUMAN	V	468	ENSP00000354622:E468V	ENSP00000354622:E468V	E	+	2	0	0	RUNDC1	38396820	38396820	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	3.290000	0.51755	2.062000	0.61559	0.533000	0.62120	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.467327	1	0.170000	NM_173079			10	10		363	349	0		1	1		0	0	60	0		9.963307e-01	7.312202e-01	0	2	0	92	0	10	363
VAT1	10493	broad.mit.edu	37	17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000420567.3	-	4	576	c.431C>A	c.(430-432)cCc>cAc	p.P144H	VAT1_ENST00000355653.3_Missense_Mutation_p.P278H|VAT1_ENST00000587173.1_Missense_Mutation_p.P210H			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					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)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTTGCCCATGGGTTTCAGGAG	0.547																																						ENST00000420567.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(430-432)cCc>cAc		vesicle amine transport 1	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)						109.0	93.0	98.0					17																	41169881		2203	4300	6503	SO:0001583	missense	10493	0	0					g.chr17:41169881G>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.431C>A	chr17.hg19:g.41169881G>T	ENSP00000408553:p.Pro144His	0					VAT1_ENST00000587173.1_Missense_Mutation_p.P210H|VAT1_ENST00000355653.3_Missense_Mutation_p.P278H	p.P144H			1	2	3	2.015275	P54219	VMAT1_HUMAN		4	576	-		Breast(137;0.000717)	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000420567.3	1	1	hg19	c.431C>A		1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588434	0.86851	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.04706	3.57;3.57	5.38	5.38	0.77491	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.050173	0.85682	D	0.000000	T	0.24661	0.0598	M	0.84585	2.705	0.80722	D	1	D;D	0.56746	0.977;0.976	P;D	0.66979	0.679;0.948	T	0.01692	-1.1294	10	0.30854	T	0.27	-4.7138	19.1326	0.93413	0.0:0.0:1.0:0.0	.	210;278	B4DPX4;Q99536	.;VAT1_HUMAN	H	278;185;144	ENSP00000347872:P278H;ENSP00000408553:P144H	ENSP00000347872:P278H	P	-	2	0	0	VAT1	38423407	38423407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.515000	0.84797	0.462000	0.41574	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.115012	1	0.170000	NM_006373			45	42		226	217	1		1	1		0	0	61	0		1	1	0	114	0	552	0	45	226
BRCA1	672	broad.mit.edu	37	17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000357654.3	-	15	4887	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000354071.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1590					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)			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)		TATGTTGCCAACACGAGCTGA	0.488			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	17q21	672	D, Mis, N, F, S	familial breast/ovarian cancer gene 1				E	E		breast, ovarian	ovarian		0				120						c.(4768-4770)gTt>gCt	Homologous recombination	breast cancer 1, early onset							134.0	133.0	133.0					17																	41223162		2203	4300	6503	SO:0001583	missense	672	1	121412	31	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		g.chr17:41223162A>G	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.4769T>C	chr17.hg19:g.41223162A>G	ENSP00000350283:p.Val1590Ala	0	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A	p.V1590A	NM_007294.3	NP_009225.1	1	2	3	2.015275	P38398	BRCA1_HUMAN		15	4887	-		Breast(137;0.000717)	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	1	1	hg19	c.4769T>C	CCDS11453.1	1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.073954	0.20147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.91407	-2.46;-2.52;-2.58;-2.36;-2.62;-2.84;-2.58;-2.43;-2.35;-2.58	4.56	2.26	0.28386	4.56	2.26	0.28386	.	0.779810	0.11235	N	0.585222	T	0.81173	0.4767	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.29612	0.001;0.103;0.001;0.251;0.001;0.001;0.0;0.003	B;B;B;B;B;B;B;B	0.24269	0.003;0.031;0.003;0.052;0.003;0.003;0.001;0.008	T	0.70200	-0.4937	10	0.54805	T	0.06	.	4.7124	0.12879	0.7079:0.1919:0.1003:0.0	.	486;439;485;487;486;1612;1590;1590	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	A	1590;1611;448;407;1294;486;439;1612;1543;485;486;361;440	ENSP00000350283:V1590A;ENSP00000312236:V448A;ENSP00000338007:V407A;ENSP00000310938:V1294A;ENSP00000417148:V486A;ENSP00000377294:V439A;ENSP00000418775:V1543A;ENSP00000420412:V486A;ENSP00000419481:V361A;ENSP00000418819:V440A	ENSP00000310938:V1294A	V	-	2	0	0	BRCA1	38476688	38476688	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.225000	0.17757	0.331000	0.23511	-0.411000	0.06167	GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-20.000000	1	0.170000	NM_007294			124	123		618	610	1		1	1	1	0	0	167	1015		1	7.411133e-01	1	4	177	11	855	124	618
BRCA1	672	broad.mit.edu	37	17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000357654.3	-	10	1058	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	314					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)			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)		TGGCTCCTTGCTAAGCCAGGC	0.418			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary breast/ovarian cancer	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	17q21	672	D, Mis, N, F, S	familial breast/ovarian cancer gene 1				E	E		breast, ovarian	ovarian		0				120						c.(940-942)Gca>Aca	Homologous recombination	breast cancer 1, early onset							162.0	150.0	154.0					17																	41246608		2203	4300	6503	SO:0001583	missense	672	0	0		Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		g.chr17:41246608C>T	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.940G>A	chr17.hg19:g.41246608C>T	ENSP00000350283:p.Ala314Thr	0	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000491747.2_Intron	p.A314T	NM_007294.3	NP_009225.1	1	2	3	2.015275	P38398	BRCA1_HUMAN		10	1058	-		Breast(137;0.000717)	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	1	1	hg19	c.940G>A	CCDS11453.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689207	0.68271	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.97710	-2.52;-2.64;-2.62;-3.02;-2.53;-2.64;-3.05;-4.5;-3.2;-2.74	4.73	3.75	0.43078	4.73	3.75	0.43078	.	0.110360	0.41097	D	0.000942	D	0.97945	0.9324	M	0.88310	2.945	0.32100	N	0.59068	D;D;P;P;P;P	0.53619	0.961;0.961;0.931;0.762;0.864;0.659	P;P;P;P;P;P	0.49332	0.541;0.541;0.566;0.542;0.521;0.607	D	0.98633	1.0672	10	0.66056	D	0.02	.	13.7087	0.62654	0.0:0.8457:0.1543:0.0	.	314;273;314;314;314;314	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	T	314;314;314;314;18;314;267;314;288;18;314	ENSP00000350283:A314T;ENSP00000326002:A314T;ENSP00000246907:A314T;ENSP00000310938:A18T;ENSP00000418960:A314T;ENSP00000418775:A267T;ENSP00000419274:A314T;ENSP00000419988:A288T;ENSP00000418986:A18T;ENSP00000419103:A314T	ENSP00000310938:A18T	A	-	1	0	0	BRCA1	38500134	38500134	0.012000	0.17670	1.000000	0.80357	0.986000	0.74619	0.149000	0.16243	1.338000	0.45544	0.655000	0.94253	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_007294			109	109		527	519	1		1	1	1	0	0	116	840		1	4.754767e-01	1	3	151	6	837	109	527
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572																																						ENST00000320033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(25-27)gCg>gTg		ADP-ribosylation factor-like 4D							70.0	68.0	68.0					17																	41477126		2203	4300	6503	SO:0001583	missense	379	0	0					g.chr17:41477126C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.26C>T	chr17.hg19:g.41477126C>T	ENSP00000322628:p.Ala9Val	0						p.A9V	NM_001661.3	NP_001652.2	1	2	3	2.015275	P49703	ARL4D_HUMAN		2	233	+		Breast(137;0.00908)	B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	1	1	hg19	c.26C>T	CCDS11463.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	0	ARL4D	38832652	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-4.293205	1	0.170000	NM_001661			86	84		288	281	1		1	1		0	0	55	0		1	9.961547e-01	0	3	0	28	0	86	288
ARL4D	379	broad.mit.edu	37	17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	149					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672																																						ENST00000320033.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(445-447)gaG>gaT		ADP-ribosylation factor-like 4D							15.0	16.0	16.0					17																	41477547		2198	4295	6493	SO:0001583	missense	379	0	0					g.chr17:41477547G>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.447G>T	chr17.hg19:g.41477547G>T	ENSP00000322628:p.Glu149Asp	0						p.E149D	NM_001661.3	NP_001652.2	1	2	3	2.015275	P49703	ARL4D_HUMAN		2	654	+		Breast(137;0.00908)	B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	0	1	hg19	c.447G>T	CCDS11463.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971464	0.74246	.	.	ENSG00000175906	ENST00000320033	T	0.64085	-0.08	4.82	2.84	0.33178	4.82	2.84	0.33178	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78285	2.405	0.49299	D	0.999775	D	0.69078	0.997	D	0.72338	0.977	T	0.74244	-0.3728	10	0.72032	D	0.01	-7.8562	7.6798	0.28507	0.2572:0.0:0.7428:0.0	.	149	P49703	ARL4D_HUMAN	D	149	ENSP00000322628:E149D	ENSP00000322628:E149D	E	+	3	2	2	ARL4D	38833073	38833073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.576000	0.67437	0.638000	0.30545	0.462000	0.41574	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_001661			24	24		75	72	0		1	1		0	0	9	0		9.999999e-01	9.799504e-01	0	3	0	20	0	24	75
DHX8	1659	broad.mit.edu	37	17	41585306	41585306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	747					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTGGAAATACTGTACACAAA	0.428																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2239-2241)Ctg>Ttg		DEAH (Asp-Glu-Ala-His) box polypeptide 8							105.0	97.0	100.0					17																	41585306		2203	4300	6503	SO:0001819	synonymous_variant	1659	1	121412	30				g.chr17:41585306C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2239C>T	chr17.hg19:g.41585306C>T		0					DHX8_ENST00000540306.1_Silent_p.L747L	p.L747L	NM_004941.1	NP_004932.1	1	2	3	2.015275	Q14562	DHX8_HUMAN		15	2311	+		Breast(137;0.00908)		Silent	SNP	ENST00000262415.3	1	1	hg19	c.2239C>T	CCDS11464.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				106	106		465	460	0		1	1		0	0	84	0		1	9.999975e-01	0	8	0	74	0	106	465
DHX8	1659	broad.mit.edu	37	17	41599414	41599414	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TATCTTGATAGACACAAGCTG	0.498																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.e22-1		DEAH (Asp-Glu-Ala-His) box polypeptide 8							190.0	179.0	183.0					17																	41599414		2203	4300	6503	SO:0001630	splice_region_variant	1659	0	0					g.chr17:41599414G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3264-1G>T	chr17.hg19:g.41599414G>T		0					DHX8_ENST00000540306.1_Splice_Site		NM_004941.1	NP_004932.1	1	2	3	2.015275	Q14562	DHX8_HUMAN		22	3335	+		Breast(137;0.00908)		Splice_Site	SNP	ENST00000262415.3	1	1	hg19		CCDS11464.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662375	0.88251	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7186	0.91685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DHX8	38954940	38954940	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	.	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	1		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000		Intron		160	157		814	805	1		1			0	0	160	0		1	0	0	0	0	0	0	160	814
ETV4	2118	broad.mit.edu	37	17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000319349.5	-	11	1272	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	325					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGCACCGACCCCTTCCTGCTT	0.597			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5	1.000000	0.250000	5.400000e-01	3.200000e-01	0.400000	0.463045	0.400000	0.390000				Dom	yes			Dom	yes		17	17q21	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""				"""M, E"""	M, E	EWSR1, TMPRSS2, DDX5, KLK2, CANT1		Ewing sarcoma, Prostate carcinoma	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				3						c.(973-975)gGg>gAg		ets variant 4							54.0	61.0	59.0					17																	41607026		2203	4300	6503	SO:0001583	missense	2118	0	0					g.chr17:41607026C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.974G>A	chr17.hg19:g.41607026C>T	ENSP00000321835:p.Gly325Glu	0					ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E	p.G325E	NM_001079675.2	NP_001073143.1	1	2	3	2.015275	P43268	ETV4_HUMAN		11	1272	-		Breast(137;0.00908)	A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	1	1	hg19	c.974G>A	CCDS11465.1	0	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429589	0.62844	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.08282	3.12;3.12;3.11;3.11;3.11	6.04	6.04	0.98038	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.094180	0.64402	D	0.000001	T	0.24661	0.0598	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.992;0.984;1.0	D;P;D	0.97110	0.944;0.825;1.0	T	0.00020	-1.2356	10	0.44086	T	0.13	.	15.1851	0.72993	0.1402:0.8598:0.0:0.0	.	271;286;325	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	E	325;325;286;286;271	ENSP00000321835:G325E;ENSP00000377273:G325E;ENSP00000443846:G286E;ENSP00000440023:G286E;ENSP00000441749:G271E	ENSP00000321835:G325E	G	-	2	0	0	ETV4	38962552	38962552	0.980000	0.34600	0.993000	0.49108	0.233000	0.25261	2.540000	0.45727	2.873000	0.98535	0.561000	0.74099	GGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	0	0	1		2	2	2	0		0	0	128		128	125	1	2.060000	-2.740661	1	0.170000	NM_001986			21	21		617	598	1		1	1		0	0	128	0		9.999966e-01	9.264561e-01	0	15	0	117	0	21	617
MEOX1	4222	broad.mit.edu	37	17	41720868	41720868	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	ENST00000318579.4	-	2	1049	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L|MEOX1_ENST00000549132.1_Intron	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	210					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGCGCTCAGAGAGGTCCAGGT	0.607																																						ENST00000318579.4	1.000000	0.530000	1	8.700000e-01	0.990000	0.946131	0.990000	1.000000																										0				8						c.(628-630)ctC>ctA		mesenchyme homeobox 1							53.0	47.0	49.0					17																	41720868		2203	4299	6502	SO:0001819	synonymous_variant	4222	0	0					g.chr17:41720868G>T		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.630C>A	chr17.hg19:g.41720868G>T		0					MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L	p.L210L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	1	2	3	2.015275	P50221	MEOX1_HUMAN		2	1049	-		Breast(137;0.00908)	A8K524|A8MWF9|Q15069	Silent	SNP	ENST00000318579.4	0	1	hg19	c.630C>A	CCDS11466.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-10.827320	1	0.170000				5	5		40	40	0		1	0		0	0	9	0		9.413106e-01	8.245170e-01	0	0	0	28	0	5	40
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577																																						ENST00000318579.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(445-447)tCc>tTc		mesenchyme homeobox 1							197.0	197.0	197.0					17																	41738457		2203	4300	6503	SO:0001583	missense	4222	0	0					g.chr17:41738457G>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.446C>T	chr17.hg19:g.41738457G>A	ENSP00000321684:p.Ser149Phe	0					MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F	p.S149F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	1	2	3	2.015275	P50221	MEOX1_HUMAN		1	865	-		Breast(137;0.00908)	A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	1	1	hg19	c.446C>T	CCDS11466.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748940|2.748940	0.49257|0.49257	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.42;-2.91	4.99|4.99	2.95|2.95	0.34219|0.34219	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91071|0.91071	0.7190|0.7190	L|L	0.42245|0.42245	1.32|1.32	0.39430|0.39430	D|D	0.967062|0.967062	.|P;P	.|0.46220	.|0.874;0.523	.|P;B	.|0.51355	.|0.667;0.429	D|D	0.89161|0.89161	0.3530|0.3530	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	S|F	120|149;149;34	.|ENSP00000321684:S149F;ENSP00000328678:S149F;ENSP00000377271:S34F	ENSP00000449049:P120S|ENSP00000321684:S149F	P|S	-|-	1|2	0|0	0|0	MEOX1|MEOX1	39093983|39093983	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	1	0	1		2	2	2	0		0	0	233		233	232	1	2.060000	-20.000000	1	0.170000				224	221		1077	1060	1		1	0		0	0	233	0		1	8.813386e-01	0	0	0	20	0	224	1077
MPP2	4355	broad.mit.edu	37	17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A	rs182947184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000461854.1	-	11	1244	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	387	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGCGCCGTCCCACGCCC	0.607											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20435	0.0		0.0	False		,,,				2504	0.0					ENST00000461854.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1159-1161)Cgg>Tgg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							100.0	91.0	94.0					17																	41958122		2203	4300	6503	SO:0001583	missense	4355	2	121412	35				g.chr17:41958122G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1159C>T	chr17.hg19:g.41958122G>A	ENSP00000428286:p.Arg387Trp	0		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W	p.R387W			1	2	3	2.015275	Q14168	MPP2_HUMAN		11	1244	-		Breast(137;0.00314)	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	1	1	hg19	c.1159C>T		1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.8	4.566265	0.86439	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.02	5.02	0.67125	5.02	5.02	0.67125	.	.	.	.	.	T	0.55768	0.1941	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66484	-0.5912	9	0.87932	D	0	.	11.3615	0.49646	0.0:0.0:0.8187:0.1813	.	408;380	E7EV80;Q14168-3	.;.	W	380;363;387;224;352;352;408	ENSP00000366389:R380W;ENSP00000269095:R363W;ENSP00000428286:R387W;ENSP00000428136:R224W;ENSP00000430540:R352W;ENSP00000438012:R352W;ENSP00000428182:R408W	ENSP00000269095:R363W	R	-	1	2	2	MPP2	39313648	39313648	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.519000	0.73768	2.511000	0.84671	0.485000	0.47835	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_005374			93	93		390	384	1		1	0		0	0	90	0		1	3.295163e-01	0	0	0	6	0	93	390
TMEM101	84336	broad.mit.edu	37	17	42090467	42090467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000587529.1_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101	125					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622																																						ENST00000589334.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(373-375)agC>agT		transmembrane protein 101							39.0	31.0	34.0					17																	42090467		2203	4300	6503	SO:0001819	synonymous_variant	84336	4	121380	32				g.chr17:42090467G>A	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.375C>T	chr17.hg19:g.42090467G>A		0					TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000587529.1_Silent_p.S125S	p.S125S			1	2	3	2.015275	Q96IK0	TM101_HUMAN		4	690	-		Breast(137;0.0264)|Prostate(33;0.0861)	B2R9N6	Silent	SNP	ENST00000589334.1	1	1	hg19	c.375C>T	CCDS11474.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_032376			45	43		177	170	1		1	1		0	0	36	0		1	1	0	55	0	125	0	45	177
G6PC3	92579	broad.mit.edu	37	17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	287					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATAGCCTGCCTTGTGCTGGCC	0.622																																						ENST00000269097.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(859-861)cTt>cGt		glucose 6 phosphatase, catalytic, 3							63.0	61.0	62.0					17																	42153230		2203	4300	6503	SO:0001583	missense	92579	0	0					g.chr17:42153230T>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.860T>G	chr17.hg19:g.42153230T>G	ENSP00000269097:p.Leu287Arg	0						p.L287R	NM_138387.3	NP_612396.1	1	2	3	2.015275	Q9BUM1	G6PC3_HUMAN		6	1091	+		Breast(137;0.00637)|Prostate(33;0.0313)	Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	1	1	hg19	c.860T>G	CCDS11476.1	1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668251	0.47677	.	.	ENSG00000141349	ENST00000269097	T	0.79454	-1.27	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.411941	0.23644	N	0.045981	T	0.66538	0.2799	L	0.39898	1.24	0.09310	N	0.999999	P	0.37955	0.612	B	0.34722	0.188	T	0.64888	-0.6301	10	0.66056	D	0.02	-35.6274	7.593	0.28031	0.0:0.0926:0.0:0.9074	.	287	Q9BUM1	G6PC3_HUMAN	R	287	ENSP00000269097:L287R	ENSP00000269097:L287R	L	+	2	0	0	G6PC3	39508756	39508756	0.992000	0.36948	0.417000	0.26559	0.684000	0.39900	4.629000	0.61290	2.181000	0.69327	0.533000	0.62120	CTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_138387			98	97		415	409	1		1	1		0	0	92	0		1	1	0	81	0	190	0	98	415
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000393622.2	-	17	2640	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L|HDAC5_ENST00000225983.6_Missense_Mutation_p.P771L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	770	Histone deacetylase.				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)			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)		CTGGCTGATGGGGCCTGCATG	0.597																																						ENST00000393622.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2308-2310)cCc>cTc		histone deacetylase 5							60.0	59.0	59.0					17																	42161219		2203	4300	6503	SO:0001583	missense	10014	0	0					g.chr17:42161219G>A	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.2309C>T	chr17.hg19:g.42161219G>A	ENSP00000377244:p.Pro770Leu	0					HDAC5_ENST00000225983.6_Missense_Mutation_p.P771L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L	p.P770L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	1	2	3	2.015275	Q9UQL6	HDAC5_HUMAN		17	2640	-		Breast(137;0.00637)|Prostate(33;0.0313)	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	1	1	hg19	c.2309C>T	CCDS45696.1	1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69561	-0.41;-0.41;1.21	5.0	5.0	0.66597	5.0	5.0	0.66597	Histone deacetylase domain (2);	0.229124	0.36134	N	0.002771	T	0.56572	0.1994	N	0.01817	-0.705	0.80722	D	1	D;B;B;B	0.63046	0.992;0.0;0.0;0.0	P;B;B;B	0.59643	0.861;0.012;0.003;0.004	T	0.65088	-0.6253	10	0.27785	T	0.31	-17.6981	17.2411	0.87013	0.0:0.0:1.0:0.0	.	685;770;771;770	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	771;770;685	ENSP00000225983:P771L;ENSP00000377244:P770L;ENSP00000337290:P685L	ENSP00000225983:P771L	P	-	2	0	0	HDAC5	39516745	39516745	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.382000	0.66213	2.607000	0.88179	0.655000	0.94253	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.450928	1	0.170000	NM_001015053			76	74		315	310	1		1	1		0	0	67	0		1	1	0	34	0	120	0	76	315
TMUB2	79089	broad.mit.edu	37	17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000587989.1	+	3	662	c.509G>A	c.(508-510)aGc>aAc	p.S170N	TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000589184.1_Intron|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000592825.1_Intron			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	170						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602																																						ENST00000587989.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998810	0.990000	1.000000																										0				8						c.(508-510)aGc>aAc		transmembrane and ubiquitin-like domain containing 2							48.0	48.0	48.0					17																	42266863		2203	4300	6503	SO:0001583	missense	79089	0	0					g.chr17:42266863G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.509G>A	chr17.hg19:g.42266863G>A	ENSP00000466971:p.Ser170Asn	0					TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000592825.1_Intron|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000589184.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|ASB16-AS1_ENST00000585457.1_RNA	p.S170N			1	2	3	2.015275	Q71RG4	TMUB2_HUMAN		3	662	+		Breast(137;0.00765)|Prostate(33;0.0181)	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	1	1	hg19	c.509G>A	CCDS54134.1	1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752706	0.15778	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.64	3.43	0.39272	4.64	3.43	0.39272	.	0.509177	0.22384	N	0.060766	T	0.23410	0.0566	N	0.16478	0.41	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.07065	-1.0792	10	0.31617	T	0.26	-6.288	7.3111	0.26475	0.1962:0.0:0.8038:0.0	.	113;150;170	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	N	113;150;170;150	ENSP00000413127:S113N;ENSP00000350672:S150N;ENSP00000444565:S170N;ENSP00000313214:S150N	ENSP00000313214:S150N	S	+	2	0	0	TMUB2	39622389	39622389	0.579000	0.26725	0.836000	0.33094	0.850000	0.48378	2.586000	0.46119	2.128000	0.65567	0.561000	0.74099	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	0	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_177441			41	41		316	312	1		1	1		0	0	79	0		1	1	0	33	0	195	0	41	316
ATXN7L3	56970	broad.mit.edu	37	17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000454077.2	-	6	525	c.526T>C	c.(526-528)Tca>Cca	p.S176P	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S169P|ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537																																						ENST00000454077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(526-528)Tca>Cca		ataxin 7-like 3							93.0	90.0	91.0					17																	42273420		1856	4094	5950	SO:0001583	missense	56970	0	0					g.chr17:42273420A>G	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.526T>C	chr17.hg19:g.42273420A>G	ENSP00000397259:p.Ser176Pro	0					CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S169P	p.S176P	NM_020218.1	NP_064603.1	1	2	3	2.015275				6	525	-		Breast(137;0.00765)|Prostate(33;0.0181)		Missense_Mutation	SNP	ENST00000454077.2	1	1	hg19	c.526T>C	CCDS45697.1	1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595838	0.66332	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.064498	0.64402	D	0.000005	T	0.58177	0.2104	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.54964	0.005;0.969	B;P	0.52424	0.006;0.698	T	0.59490	-0.7445	9	0.45353	T	0.12	.	13.6304	0.62191	1.0:0.0:0.0:0.0	.	169;176	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	P	176;169	.	ENSP00000374035:S169P	S	-	1	0	0	ATXN7L3	39628946	39628946	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.799000	0.75160	1.858000	0.53909	0.454000	0.30748	TCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000				54	54		302	296	1		1	1		0	0	94	0		1	1	0	58	0	157	0	54	302
ATXN7L3	56970	broad.mit.edu	37	17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000454077.2	-	6	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R165Q|ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498																																						ENST00000454077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(514-516)cGa>cAa		ataxin 7-like 3							90.0	88.0	89.0					17																	42273431		1852	4092	5944	SO:0001583	missense	56970	0	0					g.chr17:42273431C>T	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.515G>A	chr17.hg19:g.42273431C>T	ENSP00000397259:p.Arg172Gln	0					CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R165Q	p.R172Q	NM_020218.1	NP_064603.1	1	2	3	2.015275				6	514	-		Breast(137;0.00765)|Prostate(33;0.0181)		Missense_Mutation	SNP	ENST00000454077.2	1	1	hg19	c.515G>A	CCDS45697.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095123	0.76870	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.75484	0.788;0.986	T	0.76932	-0.2776	9	0.54805	T	0.06	.	16.9903	0.86352	0.0:1.0:0.0:0.0	.	165;172	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	172;165	.	ENSP00000374035:R165Q	R	-	2	0	0	ATXN7L3	39628957	39628957	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.202000	0.77856	2.290000	0.77057	0.556000	0.70494	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-3.415370	1	0.170000				73	73		308	302	0		1	1		0	0	95	0		1	1	0	64	0	197	0	73	308
UBTF	7343	broad.mit.edu	37	17	42287719	42287719	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42287719C>A	ENST00000302904.4	-	14	1974	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	494					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)			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)		CGATAACGCTCTGTTGCCAGA	0.652											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4	1.000000	0.150000	4.100000e-01	2.100000e-01	0.280000	0.359126	0.280000	0.270000																										0				29						c.(1480-1482)caG>caT		upstream binding transcription factor, RNA polymerase I							80.0	77.0	78.0					17																	42287719		2203	4300	6503	SO:0001583	missense	7343	0	0					g.chr17:42287719C>A	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.1482G>T	chr17.hg19:g.42287719C>A	ENSP00000302640:p.Gln494His	0		OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H	p.Q494H			1	2	3	2.015275	P17480	UBF1_HUMAN		14	1974	-		Breast(137;0.00765)|Prostate(33;0.0181)	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	0	1	hg19	c.1482G>T	CCDS11480.1	0	.	.	.	.	.	.	.	.	.	.	c	15.89	2.965453	0.53507	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98221	-4.76;-4.03;-4.8;-4.76;-4.03;-4.76;-4.76;-4.03;1.93	4.61	3.59	0.41128	4.61	3.59	0.41128	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	N	0.19112	0.55	0.53688	D	0.999979	P;D;B	0.71674	0.476;0.998;0.379	B;D;B	0.65233	0.086;0.933;0.162	D	0.95584	0.8649	10	0.56958	D	0.05	-35.517	9.1917	0.37204	0.0:0.7686:0.1485:0.0829	.	457;457;494	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	H	457;494;457;457;494;457;457;494;81	ENSP00000345297:Q457H;ENSP00000302640:Q494H;ENSP00000431539:Q457H;ENSP00000437180:Q457H;ENSP00000390669:Q494H;ENSP00000377231:Q457H;ENSP00000432925:Q457H;ENSP00000435708:Q494H;ENSP00000431295:Q81H	ENSP00000302640:Q494H	Q	-	3	2	2	UBTF	39643245	39643245	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.868000	0.56055	2.392000	0.81423	0.467000	0.42956	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	0	0	1		2	2	2	0		0	0	141		141	137	1	2.060000	-2.820222	1	0.170000	NM_014233			13	13		553	546	0		1	1		0	0	141	0		9.995003e-01	8.788138e-01	0	3	0	158	0	13	553
UBTF	7343	broad.mit.edu	37	17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	10					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)			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)		ATTTCCAGGTCTGTGGGGCAG	0.652											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(28-30)Gac>Aac		upstream binding transcription factor, RNA polymerase I							65.0	71.0	69.0					17																	42295570		2203	4300	6503	SO:0001583	missense	7343	0	0					g.chr17:42295570C>T	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.28G>A	chr17.hg19:g.42295570C>T	ENSP00000302640:p.Asp10Asn	0		OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N	p.D10N			1	2	3	2.015275	P17480	UBF1_HUMAN		2	520	-		Breast(137;0.00765)|Prostate(33;0.0181)	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	1	1	hg19	c.28G>A	CCDS11480.1	1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.150388	0.57151	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.98419	-4.8;-4.06;-4.92;-4.8;-4.06;-4.8;-4.8;-4.06;0.87	4.41	4.41	0.53225	4.41	4.41	0.53225	.	0.401718	0.20201	U	0.097092	D	0.94588	0.8256	N	0.24115	0.695	0.26591	N	0.973195	B;B;B	0.29716	0.167;0.003;0.255	B;B;B	0.26614	0.045;0.003;0.071	D	0.90894	0.4763	10	0.66056	D	0.02	-26.5052	10.4813	0.44695	0.0:0.9094:0.0:0.0906	.	10;10;10	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	10	ENSP00000345297:D10N;ENSP00000302640:D10N;ENSP00000431539:D10N;ENSP00000437180:D10N;ENSP00000390669:D10N;ENSP00000377231:D10N;ENSP00000432925:D10N;ENSP00000435708:D10N;ENSP00000433046:D10N	ENSP00000302640:D10N	D	-	1	0	0	UBTF	39651096	39651096	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.537000	0.45702	2.301000	0.77427	0.561000	0.74099	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_014233			101	98		530	517	1		1	1		0	0	105	0		1	1	0	20	0	109	0	101	530
SLC25A39	51629	broad.mit.edu	37	17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000377095.5	-	8	714	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.L191M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	199					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGCACCCAGCTCCCGGTAC	0.632																																						ENST00000377095.5	1.000000	0.530000	1	7.000000e-01	0.920000	0.875509	0.920000	1.000000																										0				7						c.(595-597)Ctg>Atg		solute carrier family 25, member 39							39.0	35.0	36.0					17																	42398522		2203	4299	6502	SO:0001583	missense	51629	0	0					g.chr17:42398522G>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.595C>A	chr17.hg19:g.42398522G>T	ENSP00000366299:p.Leu199Met	0					SLC25A39_ENST00000225308.8_Missense_Mutation_p.L191M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M	p.L199M	NM_001143780.1	NP_001137252.1	1	2	3	2.015275	Q9BZJ4	S2539_HUMAN		8	714	-		Prostate(33;0.0233)	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	1	1	hg19	c.595C>A	CCDS45700.1	1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974157	0.18736	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80033	-1.33;-1.33;-1.33	5.31	1.23	0.21249	5.31	1.23	0.21249	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.79981	0.4540	L	0.40543	1.245	0.52501	D	0.999955	P;D;P	0.61697	0.767;0.99;0.88	P;D;B	0.63957	0.525;0.92;0.444	T	0.72921	-0.4145	10	0.21014	T	0.42	-23.3157	8.4608	0.32927	0.369:0.0:0.631:0.0	.	176;199;191	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	191;199;176	ENSP00000225308:L191M;ENSP00000366299:L199M;ENSP00000444540:L176M	ENSP00000225308:L191M	L	-	1	2	2	SLC25A39	39754048	39754048	1.000000	0.71417	0.856000	0.33681	0.045000	0.14185	1.822000	0.39052	0.118000	0.18165	-0.137000	0.14449	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-19.732030	1	0.170000	NM_016016			15	15		186	182	1		1	1		0	0	41	0		9.998733e-01	9.999999e-01	0	57	0	381	0	15	186
SLC25A39	51629	broad.mit.edu	37	17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000377095.5	-	8	699	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.V186M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	194					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGTACGACACATGCTGAGCC	0.627																																						ENST00000377095.5	1.000000	0.580000	1	7.600000e-01	0.970000	0.906409	0.970000	1.000000																										0				7						c.(580-582)Gtg>Atg		solute carrier family 25, member 39							44.0	40.0	41.0					17																	42398537		2202	4300	6502	SO:0001583	missense	51629	2	121394	33				g.chr17:42398537C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.580G>A	chr17.hg19:g.42398537C>T	ENSP00000366299:p.Val194Met	0					SLC25A39_ENST00000225308.8_Missense_Mutation_p.V186M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M	p.V194M	NM_001143780.1	NP_001137252.1	1	2	3	2.015275	Q9BZJ4	S2539_HUMAN		8	699	-		Prostate(33;0.0233)	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	1	1	hg19	c.580G>A	CCDS45700.1	1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565521	0.13560	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79033	-1.23;-1.23;-1.23	5.31	2.02	0.26589	5.31	2.02	0.26589	Mitochondrial carrier domain (2);	0.241487	0.33980	N	0.004373	T	0.69637	0.3133	L	0.41632	1.29	0.40027	D	0.975488	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.16722	0.016;0.01;0.009	T	0.65413	-0.6174	10	0.31617	T	0.26	-16.7721	16.3624	0.83273	0.0:0.3223:0.6777:0.0	.	171;194;186	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	186;194;171	ENSP00000225308:V186M;ENSP00000366299:V194M;ENSP00000444540:V171M	ENSP00000225308:V186M	V	-	1	0	0	SLC25A39	39754063	39754063	0.998000	0.40836	0.015000	0.15790	0.020000	0.10135	2.820000	0.48057	0.777000	0.33496	0.655000	0.94253	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-19.998500	1	0.170000	NM_016016			17	17		197	192	1		1	1		0	0	43	0		9.999650e-01	1	0	63	0	341	0	17	197
GRN	2896	broad.mit.edu	37	17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000053867.3	+	11	1280	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	406					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657																																						ENST00000053867.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1216-1218)caG>caT		granulin							46.0	47.0	46.0					17																	42429421		2203	4300	6503	SO:0001583	missense	2896	0	0					g.chr17:42429421G>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1218G>T	chr17.hg19:g.42429421G>T	ENSP00000053867:p.Gln406His	0					GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	p.Q406H	NM_002087.2	NP_002078.1	1	2	3	2.015275	P28799	GRN_HUMAN		11	1280	+		Prostate(33;0.0181)	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	1	1	hg19	c.1218G>T	CCDS11483.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601522	0.28534	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.71817	-0.6	4.98	-1.24	0.09435	4.98	-1.24	0.09435	Granulin (3);	1.020460	0.07832	N	0.961501	T	0.44685	0.1305	N	0.05608	-0.01	0.28734	N	0.90234	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.32666	-0.9898	10	0.36615	T	0.2	-0.6967	3.0421	0.06141	0.0868:0.1987:0.3692:0.3453	.	343;406	B4DJI2;P28799	.;GRN_HUMAN	H	406;226	ENSP00000053867:Q406H	ENSP00000053867:Q406H	Q	+	3	2	2	GRN	39784947	39784947	0.000000	0.05858	0.987000	0.45799	0.942000	0.58702	-0.586000	0.05787	0.123000	0.18342	0.561000	0.74099	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	1	0	0		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_002087			59	58		292	290	1		1	1		0	0	63	0		1	1	0	536	0	2149	0	59	292
GRN	2896	broad.mit.edu	37	17	42429451	42429451	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000053867.3	+	11	1310	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	GRN_ENST00000589265.1_Silent_p.C259C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	416					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642																																						ENST00000053867.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1246-1248)tgT>tgC		granulin							62.0	62.0	62.0					17																	42429451		2203	4300	6503	SO:0001819	synonymous_variant	2896	0	0					g.chr17:42429451T>C	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1248T>C	chr17.hg19:g.42429451T>C		0					GRN_ENST00000589265.1_Silent_p.C259C	p.C416C	NM_002087.2	NP_002078.1	1	2	3	2.015275	P28799	GRN_HUMAN		11	1310	+		Prostate(33;0.0181)	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	1	1	hg19	c.1248T>C	CCDS11483.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	1	0	0		2	2	2	0		0	0	72		72	68	1	2.060000	-20.000000	1	0.170000	NM_002087			74	73		340	333	1		1	1		0	0	72	0		1	1	0	646	0	2787	0	74	340
GPATCH8	23131	broad.mit.edu	37	17	42476826	42476826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000591680.1	-	8	2649	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_ENST00000434000.1_Silent_p.S795S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	873	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGCATCTGAGCTACTTGAGT	0.542																																						ENST00000591680.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2617-2619)agC>agT		G patch domain containing 8							128.0	114.0	119.0					17																	42476826		2203	4300	6503	SO:0001819	synonymous_variant	23131	0	0					g.chr17:42476826G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2619C>T	chr17.hg19:g.42476826G>A		0					GPATCH8_ENST00000434000.1_Silent_p.S795S	p.S873S	NM_001002909.2	NP_001002909.1	1	2	3	2.015275	Q9UKJ3	GPTC8_HUMAN		8	2649	-		Prostate(33;0.0181)	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	1	1	hg19	c.2619C>T	CCDS32666.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_001002909			117	113		534	531	1		1	1		0	0	111	0		1	9.999468e-01	0	13	0	53	0	117	534
FZD2	2535	broad.mit.edu	37	17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	231					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCGGCCCGATGGTTCCAT	0.617																																						ENST00000315323.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(691-693)Gat>Aat		frizzled class receptor 2							57.0	54.0	55.0					17																	42635747		2203	4300	6503	SO:0001583	missense	2535	1	121162	33				g.chr17:42635747G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.691G>A	chr17.hg19:g.42635747G>A	ENSP00000323901:p.Asp231Asn	0						p.D231N	NM_001466.3	NP_001457.1	1	2	3	2.015275	Q14332	FZD2_HUMAN		1	823	+		Prostate(33;0.0181)	Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	1	1	hg19	c.691G>A	CCDS11484.1	1	.	.	.	.	.	.	.	.	.	.	g	0.258	-1.001330	0.02128	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.112484	0.64402	D	0.000017	T	0.41396	0.1157	N	0.01874	-0.695	0.31338	N	0.683994	B	0.12630	0.006	B	0.04013	0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	16.4665	0.84080	0.0:0.0:1.0:0.0	.	231	Q14332	FZD2_HUMAN	N	307;231	ENSP00000323901:D231N	ENSP00000323901:D231N	D	+	1	0	0	FZD2	39991273	39991273	0.767000	0.28508	0.806000	0.32338	0.629000	0.37895	1.461000	0.35255	1.935000	0.56089	0.561000	0.74099	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001466			60	60		302	297	1		1	1		0	0	74	0		1	9.783230e-01	0	10	0	23	0	60	302
FZD2	2535	broad.mit.edu	37	17	42636670	42636670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42636670G>T	ENST00000315323.3	+	1	1746	c.1614G>T	c.(1612-1614)tgG>tgT	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	538					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGCTTCTGGATCTGGTCGG	0.627																																						ENST00000315323.3	1.000000	0.170000	6.900000e-01	2.800000e-01	0.430000	0.490418	0.430000	0.380000																										0				33						c.(1612-1614)tgG>tgT		frizzled class receptor 2							32.0	31.0	31.0					17																	42636670		2203	4300	6503	SO:0001583	missense	2535	0	0					g.chr17:42636670G>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1614G>T	chr17.hg19:g.42636670G>T	ENSP00000323901:p.Trp538Cys	0						p.W538C	NM_001466.3	NP_001457.1	1	2	3	2.015275	Q14332	FZD2_HUMAN		1	1746	+		Prostate(33;0.0181)	Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	0	1	hg19	c.1614G>T	CCDS11484.1	0	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599520	0.66332	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.91464	-2.85	4.86	4.86	0.63082	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	538	Q14332	FZD2_HUMAN	C	614;538	ENSP00000323901:W538C	ENSP00000323901:W538C	W	+	3	0	0	FZD2	39992196	39992196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.236000	0.73375	0.555000	0.69702	TGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	0	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-8.582715	1	0.170000	NM_001466			6	6		178	177	0		1	1		0	0	27	0		9.651520e-01	5.169811e-01	0	3	0	44	0	6	178
DBF4B	80174	broad.mit.edu	37	17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	57	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502																																						ENST00000315005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(169-171)Ctg>Atg		DBF4 zinc finger B							86.0	84.0	85.0					17																	42800334		2203	4300	6503	SO:0001583	missense	80174	0	0					g.chr17:42800334C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.169C>A	chr17.hg19:g.42800334C>A	ENSP00000323663:p.Leu57Met	0					DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M	p.L57M	NM_145663.2	NP_663696.1	1	2	3	2.015275	Q8NFT6	DBF4B_HUMAN		3	307	+		Prostate(33;0.0322)	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	1	1	hg19	c.169C>A	CCDS11485.1	1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617235	0.66672	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.11169	2.8;2.8;2.8	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.183972	0.25327	U	0.031462	T	0.29817	0.0745	M	0.73962	2.25	0.26725	N	0.970697	D;D;D;D	0.71674	0.994;0.998;0.989;0.998	P;D;P;D	0.71656	0.906;0.962;0.862;0.974	T	0.02437	-1.1159	10	0.59425	D	0.04	-9.6037	11.6941	0.51534	0.0:1.0:0.0:0.0	.	57;41;57;57	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	M	57;57;57;57;41	ENSP00000377178:L57M;ENSP00000381381:L57M;ENSP00000323663:L57M	ENSP00000323663:L57M	L	+	1	2	2	DBF4B	40155860	40155860	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.100000	0.41777	2.208000	0.71279	0.555000	0.69702	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_025104			72	72		317	315	1		1	1		0	0	72	0		1	5.799492e-01	0	4	0	6	0	72	317
DBF4B	80174	broad.mit.edu	37	17	42824842	42824842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	341					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602																																						ENST00000315005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1021-1023)agC>agT		DBF4 zinc finger B							75.0	60.0	65.0					17																	42824842		2203	4300	6503	SO:0001819	synonymous_variant	80174	1	121412	29				g.chr17:42824842C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1023C>T	chr17.hg19:g.42824842C>T		0					DBF4B_ENST00000393547.2_Silent_p.S341S	p.S341S	NM_145663.2	NP_663696.1	1	2	3	2.015275	Q8NFT6	DBF4B_HUMAN		12	1161	+		Prostate(33;0.0322)	D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	1	1	hg19	c.1023C>T	CCDS11485.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1		2	2	2	0		0	0	62		62	59	1	2.060000	-20.000000	1	0.170000	NM_025104			56	56		212	211	1		1	0		0	0	62	0		1	1.991518e-01	0	0	0	4	0	56	212
DBF4B	80174	broad.mit.edu	37	17	42828513	42828513	+	Silent	SNP	C	C	A	rs538751427	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	580					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562																																						ENST00000315005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1738-1740)tcC>tcA		DBF4 zinc finger B							112.0	97.0	102.0					17																	42828513		2203	4300	6503	SO:0001819	synonymous_variant	80174	0	0					g.chr17:42828513C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1740C>A	chr17.hg19:g.42828513C>A		0					DBF4B_ENST00000393547.2_Intron	p.S580S	NM_145663.2	NP_663696.1	1	2	3	2.015275	Q8NFT6	DBF4B_HUMAN		14	1878	+		Prostate(33;0.0322)	D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	1	1	hg19	c.1740C>A	CCDS11485.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-2.887382	1	0.170000	NM_025104			114	113		565	555	1		1	0		0	0	138	0		1	2.872264e-02	0	0	0	2	0	114	565
GJC1	10052	broad.mit.edu	37	17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	183					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACGGTCCTTGCCAGCAACTGC	0.483																																						ENST00000426548.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(547-549)Gca>Tca		gap junction protein, gamma 1, 45kDa							204.0	184.0	191.0					17																	42882639		2203	4300	6503	SO:0001583	missense	10052	0	0					g.chr17:42882639C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.547G>T	chr17.hg19:g.42882639C>A	ENSP00000411528:p.Ala183Ser	0					GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	1	2	3	2.015275	P36383	CXG1_HUMAN		3	816	-		Prostate(33;0.0959)	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	1	1	hg19	c.547G>T	CCDS11487.1	1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608452	0.14002	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.237085	0.43747	D	0.000539	D	0.93301	0.7865	N	0.13043	0.29	0.31560	N	0.657666	B	0.09022	0.002	B	0.08055	0.003	D	0.90067	0.4160	10	0.30078	T	0.28	.	13.3967	0.60858	0.1572:0.8428:0.0:0.0	.	183	P36383	CXG1_HUMAN	S	183	ENSP00000411528:A183S;ENSP00000333193:A183S	ENSP00000333193:A183S	A	-	1	0	0	GJC1	40238165	40238165	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.994000	0.40757	2.581000	0.87130	0.514000	0.50259	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	1	0	1		2	2	2	0		0	0	178		178	177	1	2.060000	-20.000000	1	0.170000	NM_005497			148	144		834	816	1		1	1		0	0	178	0		1	7.500596e-01	0	4	0	13	0	148	834
EFTUD2	9343	broad.mit.edu	37	17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L	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	718					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)			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)				TTGGTCTGGAAGAACTCTCCC	0.577																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				32						c.(2152-2154)Ttc>Ctc		elongation factor Tu GTP binding domain containing 2							72.0	68.0	70.0					17																	42932031		2203	4300	6503	SO:0001583	missense	9343	0	0					g.chr17:42932031A>G	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.2152T>C	chr17.hg19:g.42932031A>G	ENSP00000392094:p.Phe718Leu	0					EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	p.F718L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	1	2	3	2.015275	Q15029	U5S1_HUMAN		22	2449	-		Prostate(33;0.109)	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	1	1	hg19	c.2152T>C	CCDS11489.1	1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710728	0.68730	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26373	1.74;1.74	5.14	5.14	0.70334	5.14	5.14	0.70334	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);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17082	0.46	0.80722	D	1	B;B	0.27316	0.175;0.071	B;B	0.37304	0.246;0.107	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.146	15.1331	0.72542	1.0:0.0:0.0:0.0	.	708;718	B4DMC0;Q15029	.;U5S1_HUMAN	L	718;708;683	ENSP00000392094:F718L;ENSP00000385873:F683L	ENSP00000262414:F708L	F	-	1	0	0	EFTUD2	40287557	40287557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.178000	0.69098	0.533000	0.62120	TTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_004247			45	43		295	290	1		1	1		0	0	80	0		1	1	0	79	0	197	0	45	295
EFTUD2	9343	broad.mit.edu	37	17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D	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	274	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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)			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)				CTTGTAATAAGCATCAGTTGG	0.517																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(820-822)gCt>gAt		elongation factor Tu GTP binding domain containing 2							197.0	181.0	186.0					17																	42953350		2203	4300	6503	SO:0001583	missense	9343	0	0					g.chr17:42953350G>T	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.821C>A	chr17.hg19:g.42953350G>T	ENSP00000392094:p.Ala274Asp	0					EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	p.A274D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	1	2	3	2.015275	Q15029	U5S1_HUMAN		10	1118	-		Prostate(33;0.109)	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	1	1	hg19	c.821C>A	CCDS11489.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534336	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.62	4.96	4.96	0.65561	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-16.834	18.401	0.90516	0.0:0.0:1.0:0.0	.	264;274	B4DMC0;Q15029	.;U5S1_HUMAN	D	274;264;239	ENSP00000392094:A274D;ENSP00000385873:A239D	ENSP00000262414:A264D	A	-	2	0	0	EFTUD2	40308876	40308876	1.000000	0.71417	0.489000	0.27452	0.098000	0.18820	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1		2	2	2	0		0	0	232		232	229	1	2.060000	-20.000000	1	0.170000	NM_004247			191	188		907	891	1		1	1		0	0	232	0		1	1	0	45	0	142	0	191	907
EFTUD2	9343	broad.mit.edu	37	17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T	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	181	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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)			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)				AGTGCTTTTGATGCCTACACC	0.443																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(541-543)aTc>aCc		elongation factor Tu GTP binding domain containing 2							154.0	145.0	148.0					17																	42957999		2203	4300	6503	SO:0001583	missense	9343	0	0					g.chr17:42957999A>G	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.542T>C	chr17.hg19:g.42957999A>G	ENSP00000392094:p.Ile181Thr	0					EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	p.I181T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	1	2	3	2.015275	Q15029	U5S1_HUMAN		8	839	-		Prostate(33;0.109)	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	1	1	hg19	c.542T>C	CCDS11489.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196402	0.78902	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	5.23	5.23	0.72850	5.23	5.23	0.72850	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.044203	0.85682	D	0.000000	D	0.86920	0.6049	M	0.88512	2.96	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.48524	0.58;0.58	D	0.88626	0.3166	10	0.66056	D	0.02	-1.4112	15.2882	0.73846	1.0:0.0:0.0:0.0	.	171;181	B4DMC0;Q15029	.;U5S1_HUMAN	T	181;171;146	ENSP00000392094:I181T;ENSP00000385873:I146T	ENSP00000262414:I171T	I	-	2	0	0	EFTUD2	40313525	40313525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.191000	0.70037	0.482000	0.46254	ATC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_004247			70	69		261	256	1		1	1		0	0	84	0		1	1	0	51	0	123	0	70	261
EFTUD2	9343	broad.mit.edu	37	17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000589211.1_5'Flank|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y	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	2					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)			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)				AAGTCGGTATCCATGATGCTA	0.403																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2	1.000000	0.230000	5.200000e-01	2.900000e-01	0.380000	0.444365	0.380000	0.360000																										0				32						c.(4-6)Gat>Tat		elongation factor Tu GTP binding domain containing 2							127.0	116.0	120.0					17																	42971886		2203	4300	6503	SO:0001583	missense	9343	0	0					g.chr17:42971886C>A	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.4G>T	chr17.hg19:g.42971886C>A	ENSP00000392094:p.Asp2Tyr	0					EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000589211.1_5'Flank|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y	p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	1	2	3	2.015275	Q15029	U5S1_HUMAN		2	301	-		Prostate(33;0.109)	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	1	1	hg19	c.4G>T	CCDS11489.1	0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328628	0.81690	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.054873	0.64402	D	0.000001	D	0.87799	0.6268	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61003	0.882;0.882	D	0.90647	0.4579	10	0.87932	D	0	-18.5418	16.6401	0.85069	0.0:1.0:0.0:0.0	.	2;2	B4DMC0;Q15029	.;U5S1_HUMAN	Y	2	ENSP00000392094:D2Y	ENSP00000262414:D2Y	D	-	1	0	0	EFTUD2	40327412	40327412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.925000	0.75829	2.450000	0.82876	0.555000	0.69702	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	0	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-3.382564	1	0.170000	NM_004247			18	18		562	556	0		1	1		0	0	111	0		9.999805e-01	9.722135e-01	0	13	0	172	0	18	562
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T	rs267607508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.				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.S398C(1)		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)				TTCTGACACAGACTTGGTGTC	0.592																																						ENST00000253408.5	1.000000	0.390000	7.100000e-01	4.700000e-01	0.570000	0.609536	0.570000	0.550000																										1	Substitution - Missense(1)	p.S398C(1)	urinary_tract(1)	23	GRCh37	CM083521	GFAP	M		c.(1192-1194)tCt>tAt		glial fibrillary acidic protein							206.0	170.0	182.0					17																	42985496		2203	4300	6503	SO:0001583	missense	2670	0	0					g.chr17:42985496G>T	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.1193C>A	chr17.hg19:g.42985496G>T	ENSP00000253408:p.Ser398Tyr	0					GFAP_ENST00000588735.1_Intron	p.S398Y	NM_002055.4	NP_002046.1	1	2	3	2.015275	P14136	GFAP_HUMAN		8	1258	-		Prostate(33;0.0959)	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	1	1	hg19	c.1193C>A	CCDS11491.1	0	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715042	0.68844	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97811	-4.55	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.95856	0.8651	L	0.27053	0.805	0.80722	D	1	P	0.45672	0.864	P	0.44597	0.454	D	0.94770	0.7944	10	0.38643	T	0.18	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	Y	398;373	ENSP00000253408:S398Y	ENSP00000253408:S398Y	S	-	2	0	0	GFAP	40341022	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	1		2	2	2	0		0	0	152		152	148	1	2.060000	-5.381218	1	0.170000	NM_002055			34	34		692	678	0		1			0	0	152	0		1	0	0	0	0	0	0	34	692
GFAP	2670	broad.mit.edu	37	17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	rs56679084	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000435360.2_Missense_Mutation_p.E223K|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	223	Linker 12.|Rod.		E -> Q (in dbSNP:rs56679084). {ECO:0000269|PubMed:12944715, ECO:0000269|PubMed:15732097}.		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)			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)				ACGTCAAGCTCCACATGGACC	0.612																																						ENST00000253408.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23	GRCh37	CM034656	GFAP	M	rs56679084	c.(667-669)Gag>Aag		glial fibrillary acidic protein							81.0	64.0	70.0					17																	42990750		2203	4300	6503	SO:0001583	missense	2670	0	0					g.chr17:42990750C>T	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.667G>A	chr17.hg19:g.42990750C>T	ENSP00000253408:p.Glu223Lys	0					GFAP_ENST00000435360.2_Missense_Mutation_p.E223K|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K	p.E223K	NM_002055.4	NP_002046.1	1	2	3	2.015275	P14136	GFAP_HUMAN		4	732	-		Prostate(33;0.0959)	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	0	1	hg19	c.667G>A	CCDS11491.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036126	0.75617	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.92495	-3.05;-3.05	4.93	4.93	0.64822	4.93	4.93	0.64822	Filament (1);	0.058017	0.64402	D	0.000002	D	0.94823	0.8328	M	0.73319	2.225	0.58432	D	0.999992	D;D	0.56968	0.978;0.972	P;D	0.62955	0.829;0.909	D	0.92488	0.5998	10	0.20046	T	0.44	.	18.3229	0.90244	0.0:1.0:0.0:0.0	.	223;223	E9PAX3;P14136	.;GFAP_HUMAN	K	223;198;223	ENSP00000253408:E223K;ENSP00000403962:E223K	ENSP00000253408:E223K	E	-	1	0	0	GFAP	40346276	40346276	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.122473	1	0.170000	NM_002055			76	75		299	297	1		1	0		0	0	56	0		1	1.881422e-01	0	0	0	4	0	76	299
GFAP	2670	broad.mit.edu	37	17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000435360.2_Missense_Mutation_p.G32S|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	32	Head.				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)			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)				GTGCCAGGACCCAGACGGCGG	0.672																																						ENST00000253408.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998408	0.990000	1.000000																										0				23						c.(94-96)Ggt>Agt		glial fibrillary acidic protein							15.0	20.0	19.0					17																	42992761		2201	4298	6499	SO:0001583	missense	2670	0	0					g.chr17:42992761C>T	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.94G>A	chr17.hg19:g.42992761C>T	ENSP00000253408:p.Gly32Ser	0					GFAP_ENST00000435360.2_Missense_Mutation_p.G32S|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S	p.G32S	NM_002055.4	NP_002046.1	1	2	3	2.015275	P14136	GFAP_HUMAN		1	159	-		Prostate(33;0.0959)	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	1	1	hg19	c.94G>A	CCDS11491.1	1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439931	0.43326	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;T	0.86030	-2.06;-2.01;-1.42	4.82	3.85	0.44370	4.82	3.85	0.44370	.	0.358527	0.29565	N	0.011784	T	0.72622	0.3483	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.13594	0.008;0.001	B;B	0.12837	0.008;0.001	T	0.61143	-0.7122	10	0.38643	T	0.18	.	8.3497	0.32295	0.0:0.758:0.1563:0.0857	.	32;32	E9PAX3;P14136	.;GFAP_HUMAN	S	32	ENSP00000253408:G32S;ENSP00000403962:G32S;ENSP00000366189:G32S	ENSP00000253408:G32S	G	-	1	0	0	GFAP	40348287	40348287	0.002000	0.14202	0.072000	0.20136	0.884000	0.51177	1.437000	0.34991	1.401000	0.46761	0.561000	0.74099	GGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	1		2	2	2	0		0	0	24		24	22	1	2.060000	-20.000000	1	0.170000	NM_002055			22	21		147	143	0		1			0	0	24	0		9.999989e-01	0	0	0	0	0	0	22	147
KIF18B	146909	broad.mit.edu	37	17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T	rs200544188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43005605C>T	ENST00000593135.1	-	13	2162	c.2065G>A	c.(2065-2067)Gtt>Att	p.V689I	KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	701					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCTGGGCAAACGCGAGGGGAA	0.652													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16019	0.0		0.001	False		,,,				2504	0.0					ENST00000593135.1	1.000000	0.180000	7.200000e-01	2.900000e-01	0.450000	0.505286	0.450000	0.400000																										0				21						c.(2065-2067)Gtt>Att		kinesin family member 18B		C	ILE/VAL	8,4022		0,8,2007	27.0	32.0	30.0		2074	-4.4	0.0	17		30	0,8318		0,0,4159	yes	missense	KIF18B	NM_001080443.1	29	0,8,6166	TT,TC,CC		0.0,0.1985,0.0648	benign	692/856	43005605	8,12340	2015	4159	6174	SO:0001583	missense	146909	31	120946	42				g.chr17:43005605C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2065G>A	chr17.hg19:g.43005605C>T	ENSP00000465992:p.Val689Ile	0					KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I	p.V689I	NM_001265577.1	NP_001252506.1	1	2	3	2.015275	Q86Y91	KI18B_HUMAN		13	2162	-		Prostate(33;0.155)	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	0	1	hg19	c.2065G>A	CCDS45709.2	0	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516827	0.00151	0.001985	0.0	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.71579	-0.58;-0.58	4.39	-4.36	0.03645	4.39	-4.36	0.03645	.	.	.	.	.	T	0.39989	0.1099	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.31641	-0.9936	9	0.08179	T	0.78	.	3.1988	0.06643	0.1292:0.4607:0.1946:0.2155	.	701;698;710	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	701;692;701	ENSP00000412798:V701I;ENSP00000341466:V692I	ENSP00000341466:V692I	V	-	1	0	0	KIF18B	40361131	40361131	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.120000	0.03273	-0.762000	0.04664	-1.486000	0.00981	GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	0	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-8.282346	1	0.170000	NM_001080443			6	6		171	169	0		1	1		0	0	25	0		9.645398e-01	1.074756e-01	0	3	0	11	0	6	171
KIF18B	146909	broad.mit.edu	37	17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000593135.1	-	2	264	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	65	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATGGGTGCCACCCCATTT	0.617																																						ENST00000593135.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				21						c.(166-168)gGc>gAc		kinesin family member 18B							25.0	29.0	28.0					17																	43013546		2018	4170	6188	SO:0001583	missense	146909	0	0					g.chr17:43013546C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.167G>A	chr17.hg19:g.43013546C>T	ENSP00000465992:p.Gly56Asp	0					KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D	p.G56D	NM_001265577.1	NP_001252506.1	1	2	3	2.015275	Q86Y91	KI18B_HUMAN		2	264	-		Prostate(33;0.155)	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	1	1	hg19	c.167G>A	CCDS45709.2	1	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105267	0.20632	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.46	4.48	0.54585	5.46	4.48	0.54585	Kinesin, motor domain (4);	0.883608	0.09370	N	0.811513	T	0.63815	0.2543	L	0.39514	1.22	0.09310	N	1	B;B;B	0.27013	0.166;0.137;0.137	B;B;B	0.29440	0.102;0.062;0.062	T	0.51608	-0.8684	10	0.12430	T	0.62	.	7.3631	0.26758	0.1691:0.7461:0.0:0.0847	.	65;65;65	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	56	ENSP00000412798:G56D;ENSP00000341466:G56D	ENSP00000341466:G56D	G	-	2	0	0	KIF18B	40369072	40369072	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.144000	0.10280	1.428000	0.47296	0.555000	0.69702	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_001080443			25	24		98	97	1		1	1		0	0	21	0		9.999999e-01	4.425440e-01	0	2	0	5	0	25	98
KIF18B	146909	broad.mit.edu	37	17	43013726	43013726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013726C>A	ENST00000590129.1	-	1	13	c.14G>T	c.(13-15)gGt>gTt	p.G5V	KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000339151.4_5'UTR|KIF18B_ENST00000593135.1_5'UTR			Q86Y91	KI18B_HUMAN	kinesin family member 18B	5					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGTGACACCTGGGTGAGA	0.652																																						ENST00000590129.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999612	0.990000	1.000000																										0				21						c.(13-15)gGt>gTt		kinesin family member 18B							12.0	14.0	13.0					17																	43013726		2140	4233	6373	SO:0001583	missense	146909	4	120346	27				g.chr17:43013726C>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000590129.1:c.14G>T	chr17.hg19:g.43013726C>A	ENSP00000465501:p.Gly5Val	0					KIF18B_ENST00000593135.1_5'UTR|KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000339151.4_5'UTR	p.G5V			1	2	3	2.015275	Q86Y91	KI18B_HUMAN		1	13	-		Prostate(33;0.155)	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000590129.1	0	1	hg19	c.14G>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIF18B-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000448725.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_001080443			11	11		36	36	0		1	1		0	0	8	0		9.990064e-01	5.309978e-01	0	2	0	5	0	11	36
NMT1	4836	broad.mit.edu	37	17	43181223	43181223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567																																						ENST00000592782.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1309-1311)gaC>gaT		N-myristoyltransferase 1							226.0	220.0	222.0					17																	43181223		2203	4300	6503	SO:0001819	synonymous_variant	4836	6	121412	42				g.chr17:43181223C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1311C>T	chr17.hg19:g.43181223C>T		0					NMT1_ENST00000258960.2_Silent_p.D437D	p.D437D			1	2	3	2.015275	P30419	NMT1_HUMAN		11	1442	+		Prostate(33;0.155)	A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	1	1	hg19	c.1311C>T	CCDS11494.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	1	0	1		2	2	2	0		0	0	219		219	217	1	2.060000	-20.000000	1	0.170000	NM_021079			266	260		1107	1086	0		1	1		0	0	219	0		1	1	0	111	0	256	0	266	1107
HEXIM1	10614	broad.mit.edu	37	17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				heart development (GO:0007507)|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)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCAGCGATGACGAC	0.617																																						ENST00000332499.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(709-711)aGc>aTc		hexamethylene bis-acetamide inducible 1							37.0	41.0	40.0					17																	43227267		2202	4299	6501	SO:0001583	missense	10614	0	0					g.chr17:43227267G>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.710G>T	chr17.hg19:g.43227267G>T	ENSP00000328773:p.Ser237Ile	0					AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	p.S237I	NM_006460.2	NP_006451.1	1	2	3	2.015275	O94992	HEXI1_HUMAN		1	2584	+			B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	1	1	hg19	c.710G>T	CCDS11495.1	1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925625	0.73213	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.217998	0.45606	D	0.000351	T	0.62636	0.2444	M	0.77616	2.38	0.44771	D	0.997773	P	0.51933	0.949	P	0.46110	0.504	T	0.69752	-0.5060	9	0.66056	D	0.02	-16.1972	12.2268	0.54465	0.0:0.1719:0.828:0.0	.	237	O94992	HEXI1_HUMAN	I	237	.	ENSP00000328773:S237I	S	+	2	0	0	HEXIM1	40583050	40583050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.187000	0.69744	0.561000	0.74099	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_006460			67	67		371	366	1		1	1		0	0	78	0		1	1	0	54	0	177	0	67	371
FMNL1	752	broad.mit.edu	37	17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	138	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)			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						TGGGTGCAGGAGTTCCTCAAT	0.627																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				33						c.(412-414)gAg>gGg		formin-like 1							143.0	127.0	132.0					17																	43311026		2203	4300	6503	SO:0001583	missense	752	0	0					g.chr17:43311026A>G	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.413A>G	chr17.hg19:g.43311026A>G	ENSP00000329219:p.Glu138Gly	0					FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	p.E138G	NM_005892.3	NP_005883	1	2	3	2.015275	O95466	FMNL_HUMAN		5	749	+			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	1	1	hg19	c.413A>G	CCDS11497.1	1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594788	0.66219	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.88818	-2.43;-2.43	5.14	5.14	0.70334	5.14	5.14	0.70334	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.054446	0.64402	D	0.000001	D	0.95162	0.8432	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95901	0.8915	10	0.72032	D	0.01	.	13.7986	0.63186	1.0:0.0:0.0:0.0	.	138;138	O95466-2;O95466	.;FMNL_HUMAN	G	138	ENSP00000327442:E138G;ENSP00000329219:E138G	ENSP00000327442:E138G	E	+	2	0	0	FMNL1	40666809	40666809	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.362000	0.79507	1.946000	0.56461	0.459000	0.35465	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_005892			46	46		257	253	1		1	0		0	0	69	0		1	9.995993e-01	0	1	0	67	0	46	257
MAP3K14	9020	broad.mit.edu	37	17	43364233	43364233	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	ENST00000344686.2	-	0	822							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGTTTCCACACGTGGTTCA	0.612																																						ENST00000344686.2	1.000000	0.110000	5.100000e-01	1.900000e-01	0.300000	0.379518	0.300000	0.260000																										0				27								mitogen-activated protein kinase kinase kinase 14							30.0	33.0	32.0					17																	43364233		1935	4121	6056			9020	1	120874	26				g.chr17:43364233C>T	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		chr17.hg19:g.43364233C>T		0									1	2	3	2.015275	Q99558	M3K14_HUMAN		0	822	-			A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	0	1	hg19			0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-6.500907	1	0.170000	NM_003954			5	4		216	213	0		1	0		0	0	51	0		9.352180e-01	2.159181e-01	0	0	0	32	0	5	216
ARHGAP27	201176	broad.mit.edu	37	17	43482416	43482416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000428638.1	-	3	1121	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000532038.1_Silent_p.D174D|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	374					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)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627																																						ENST00000428638.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1120-1122)gaC>gaT		Rho GTPase activating protein 27							46.0	48.0	47.0					17																	43482416		2203	4300	6503	SO:0001819	synonymous_variant	201176	0	0					g.chr17:43482416G>A	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.1122C>T	chr17.hg19:g.43482416G>A		0					ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000532038.1_Silent_p.D174D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000376922.2_Silent_p.D33D	p.D374D			1	2	3	2.015275	Q6ZUM4	RHG27_HUMAN		3	1121	-	Renal(3;0.0405)		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	1	1	hg19	c.1122C>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_199282			55	54		227	217	1		1	1		0	0	72	0		1	9.999851e-01	0	25	0	46	0	55	227
ARHGAP27	201176	broad.mit.edu	37	17	43507638	43507638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	ENST00000428638.1	-	1	7	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	3					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)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCACGTCCGCCGCCATCGC	0.692																																						ENST00000428638.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999436	0.990000	1.000000																										0				17						c.(7-9)gCg>gAg		Rho GTPase activating protein 27							5.0	5.0	5.0					17																	43507638		1549	3369	4918	SO:0001583	missense	201176	0	0					g.chr17:43507638G>T	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.8C>A	chr17.hg19:g.43507638G>T	ENSP00000403323:p.Ala3Glu	0					ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E	p.A3E			1	2	3	2.015275	Q6ZUM4	RHG27_HUMAN		1	7	-	Renal(3;0.0405)		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	1	1	hg19	c.8C>A		1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761006	0.69763	.	.	ENSG00000159314	ENST00000532891;ENST00000428638;ENST00000442348;ENST00000528273;ENST00000290470	T;T;T;T;T	0.54071	2.94;2.99;2.9;0.59;0.59	3.43	3.43	0.39272	3.43	3.43	0.39272	.	.	.	.	.	T	0.65154	0.2664	L	0.59436	1.845	0.25090	N	0.990867	D	0.71674	0.998	D	0.79108	0.992	T	0.51772	-0.8663	9	0.51188	T	0.08	.	8.7851	0.34816	0.0:0.2329:0.7671:0.0	.	3	Q6ZUM4-4	.	E	3	ENSP00000433942:A3E;ENSP00000403323:A3E;ENSP00000409330:A3E;ENSP00000436137:A3E;ENSP00000290470:A3E	ENSP00000290470:A3E	A	-	2	0	0	ARHGAP27	40863421	40863421	0.985000	0.35326	1.000000	0.80357	0.899000	0.52679	1.837000	0.39201	1.816000	0.52996	0.449000	0.29647	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-19.999090	1	0.170000	NM_199282			12	12		48	46	1		1	1		0	0	13	0		9.993179e-01	2.850888e-01	0	3	0	2	0	12	48
PLEKHM1	9842	broad.mit.edu	37	17	43531235	43531235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	PLEKHM1_ENST00000421073.2_Silent_p.L572L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	661					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647																																						ENST00000430334.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1981-1983)ctC>ctT		pleckstrin homology domain containing, family M (with RUN domain) member 1							34.0	40.0	38.0					17																	43531235		2201	4297	6498	SO:0001819	synonymous_variant	9842	0	0					g.chr17:43531235G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1983C>T	chr17.hg19:g.43531235G>A		0					PLEKHM1_ENST00000421073.2_Silent_p.L572L|AC091132.1_ENST00000433601.1_RNA	p.L661L	NM_014798.2	NP_055613.1	1	2	3	2.015275	Q9Y4G2	PKHM1_HUMAN		7	2116	-	Renal(3;0.0405)		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	1	1	hg19	c.1983C>T	CCDS32671.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.452748	1	0.170000	NM_014798			95	88		410	385	0		1	1		0	0	88	0		1	9.963566e-01	0	18	0	21	0	95	410
MAPT	4137	broad.mit.edu	37	17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000571987.1	+	3	272	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_5'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	91					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)			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)	CAGGCTGCCGCGCAGCCCCAC	0.637																																						ENST00000571987.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998494	0.990000	1.000000																										0				38						c.(271-273)gCg>gTg		microtubule-associated protein tau	Docetaxel(DB01248)|Paclitaxel(DB01229)						27.0	24.0	25.0					17																	44051802		2201	4299	6500	SO:0001583	missense	4137	8	121198	40				g.chr17:44051802C>T	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.272C>T	chr17.hg19:g.44051802C>T	ENSP00000458742:p.Ala91Val	0					MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V	p.A91V			1	2	3	2.015275	P10636	TAU_HUMAN		3	272	+		Melanoma(429;0.216)	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	1	1	hg19	c.272C>T	CCDS11501.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574214	0.86542	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.28255	2.56;2.56;1.62;1.69;2.56	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.39407	N	0.001378	T	0.47563	0.1452	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.944;0.955	T	0.19031	-1.0318	10	0.27082	T	0.32	-15.5257	14.651	0.68797	0.0:1.0:0.0:0.0	.	91;91;91	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	V	91	ENSP00000340820:A91V;ENSP00000262410:A91V;ENSP00000303214:A91V;ENSP00000443028:A91V;ENSP00000410838:A91V	ENSP00000262410:A91V	A	+	2	0	0	MAPT	41407638	41407638	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.944000	0.56629	2.556000	0.86216	0.561000	0.74099	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.999950	1	0.170000	NM_016835			14	13		76	76	1		1	0		0	0	23	0		9.998240e-01	2.805049e-02	0	0	0	2	0	14	76
MAPT	4137	broad.mit.edu	37	17	44060851	44060851	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000571987.1	+	5	681	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	227					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)			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)	TCGATGAGTCCTCCCCCCAAG	0.687																																						ENST00000571987.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999550	0.990000	1.000000																										0				38						c.(679-681)tcC>tcA		microtubule-associated protein tau	Docetaxel(DB01248)|Paclitaxel(DB01229)						36.0	23.0	27.0					17																	44060851		2199	4289	6488	SO:0001819	synonymous_variant	4137	0	0					g.chr17:44060851C>A	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.681C>A	chr17.hg19:g.44060851C>A		0					MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000415613.2_Silent_p.S227S	p.S227S			1	2	3	2.015275	P10636	TAU_HUMAN		5	681	+		Melanoma(429;0.216)	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	1	1	hg19	c.681C>A	CCDS11501.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_016835			22	22		129	126	1		1			0	0	25	0		9.999991e-01	0	0	0	0	0	0	22	129
SPNS2	124976	broad.mit.edu	37	17	4436305	4436305	+	Silent	SNP	G	G	A	rs199734993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					ENST00000329078.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(967-969)tcG>tcA		spinster homolog 2 (Drosophila)		G		1,3135		0,1,1567	41.0	42.0	41.0		969	-3.9	1.0	17		41	0,7162		0,0,3581	no	coding-synonymous	SPNS2	NM_001124758.1		0,1,5148	AA,AG,GG		0.0,0.0319,0.0097		323/550	4436305	1,10297	1568	3581	5149	SO:0001819	synonymous_variant	124976	9	120696	38				g.chr17:4436305G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.969G>A	chr17.hg19:g.4436305G>A		0						p.S323S	NM_001124758.1	NP_001118230.1	1	2	3	2.017774	Q8IVW8	SPNS2_HUMAN		7	1179	+			B9A1T3	Silent	SNP	ENST00000329078.3	1	1	hg19	c.969G>A	CCDS42237.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	1	0	0		2	2	2	0		0	0	72		72	70	1	2.060000	-3.386044	1	0.170000				64	63		298	291	1		1	1		0	0	72	0		1	1	0	112	0	146	0	64	298
SPNS2	124976	broad.mit.edu	37	17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	342					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701																																						ENST00000329078.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				6						c.(1024-1026)cGc>cAc		spinster homolog 2 (Drosophila)							28.0	29.0	29.0					17																	4436361		1568	3582	5150	SO:0001583	missense	124976	0	0					g.chr17:4436361G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1025G>A	chr17.hg19:g.4436361G>A	ENSP00000333292:p.Arg342His	0						p.R342H	NM_001124758.1	NP_001118230.1	1	2	3	2.017774	Q8IVW8	SPNS2_HUMAN		7	1235	+			B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	1	1	hg19	c.1025G>A	CCDS42237.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662842	0.47572	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.75	4.75	0.60458	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.46741	1.465	0.53005	D	0.999968	P	0.34662	0.462	B	0.33254	0.16	T	0.46512	-0.9186	10	0.18276	T	0.48	.	16.29	0.82742	0.0:0.0:1.0:0.0	.	342	Q8IVW8	SPNS2_HUMAN	H	342	ENSP00000333292:R342H	ENSP00000333292:R342H	R	+	2	0	0	SPNS2	4383110	4383110	1.000000	0.71417	0.986000	0.45419	0.164000	0.22412	7.614000	0.82996	2.189000	0.69895	0.313000	0.20887	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				30	29		149	148	1		1	1		0	0	32	0		1	1	0	96	0	128	0	30	149
MYBBP1A	10514	broad.mit.edu	37	17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	989					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637																																						ENST00000254718.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2965-2967)cGc>cAc		MYB binding protein (P160) 1a							147.0	136.0	140.0					17																	4445963		2203	4300	6503	SO:0001583	missense	10514	0	0					g.chr17:4445963C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2966G>A	chr17.hg19:g.4445963C>T	ENSP00000254718:p.Arg989His	0					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H	p.R989H			1	2	3	2.017774	Q9BQG0	MBB1A_HUMAN		21	3272	-			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	1	1	hg19	c.2966G>A	CCDS11046.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738408	0.89573	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68181	-0.31;-0.31	5.7	4.73	0.59995	5.7	4.73	0.59995	Armadillo-type fold (1);	0.102039	0.64402	D	0.000003	T	0.78874	0.4352	M	0.71581	2.175	0.42954	D	0.994382	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80115	-0.1517	10	0.56958	D	0.05	-26.5309	10.5564	0.45121	0.0:0.9112:0.0:0.0888	.	989;989	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	989	ENSP00000370968:R989H;ENSP00000254718:R989H	ENSP00000254718:R989H	R	-	2	0	0	MYBBP1A	4392712	4392712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.033000	0.57282	1.420000	0.47138	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_014520			95	91		461	452	1		1	1		0	0	107	0		1	1	0	53	0	105	0	95	461
MYBBP1A	10514	broad.mit.edu	37	17	4449013	4449013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	655					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682																																						ENST00000254718.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1963-1965)ttG>ttA		MYB binding protein (P160) 1a							27.0	28.0	28.0					17																	4449013		2198	4298	6496	SO:0001819	synonymous_variant	10514	0	0					g.chr17:4449013C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1965G>A	chr17.hg19:g.4449013C>T		0					MYBBP1A_ENST00000381556.2_Silent_p.L655L	p.L655L			1	2	3	2.017774	Q9BQG0	MBB1A_HUMAN		15	2271	-			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	1	1	hg19	c.1965G>A	CCDS11046.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_014520			33	32		114	111	1		1	1		0	0	15	0		1	9.999999e-01	0	34	0	67	0	33	114
MYBBP1A	10514	broad.mit.edu	37	17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	255	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617																																						ENST00000254718.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(763-765)Gcc>Acc		MYB binding protein (P160) 1a							79.0	73.0	75.0					17																	4455562		2203	4300	6503	SO:0001583	missense	10514	3	121408	36				g.chr17:4455562C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.763G>A	chr17.hg19:g.4455562C>T	ENSP00000254718:p.Ala255Thr	0					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T	p.A255T			1	2	3	2.017774	Q9BQG0	MBB1A_HUMAN		7	1069	-			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	1	1	hg19	c.763G>A	CCDS11046.1	1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187487	0.57909	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67345	-0.26;-0.26	5.78	1.52	0.23074	5.78	1.52	0.23074	Armadillo-type fold (1);	0.293259	0.37906	N	0.001897	T	0.67505	0.2900	M	0.64997	1.995	0.33679	D	0.611828	D;D	0.60160	0.987;0.984	P;P	0.55161	0.679;0.77	T	0.69698	-0.5075	10	0.30854	T	0.27	-9.8343	5.999	0.19509	0.2503:0.5632:0.1206:0.0659	.	255;255	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	255	ENSP00000370968:A255T;ENSP00000254718:A255T	ENSP00000254718:A255T	A	-	1	0	0	MYBBP1A	4402311	4402311	0.892000	0.30473	0.001000	0.08648	0.000000	0.00434	2.404000	0.44539	0.154000	0.19237	-0.829000	0.03081	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.146211	1	0.170000	NM_014520			59	56		330	326	1		1	1		0	0	85	0		1	9.988623e-01	0	15	0	44	0	59	330
STH	246744	broad.mit.edu	37	17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557																																						ENST00000537309.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(235-237)aGc>aAc		saitohin							77.0	77.0	77.0					17																	44076881		1926	4151	6077	SO:0001583	missense	246744	0	0					g.chr17:44076881G>A	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.236G>A	chr17.hg19:g.44076881G>A	ENSP00000443168:p.Ser79Asn	0					MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000415613.2_Intron	p.S79N	NM_001007532.2	NP_001007533.1	1	2	3	2.015275	Q8IWL8	STH_HUMAN		1	266	+			A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	1	1	hg19	c.236G>A	CCDS54136.1	1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874519	0.17395	.	.	ENSG00000256762	ENST00000537309	T	0.54675	0.56	2.89	0.75	0.18387	2.89	0.75	0.18387	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.16158	-1.0412	9	0.87932	D	0	.	2.9961	0.05998	0.158:0.0:0.5773:0.2646	.	79	Q8IWL8	STH_HUMAN	N	79	ENSP00000443168:S79N	ENSP00000443168:S79N	S	+	2	0	0	STH	41432718	41432718	0.007000	0.16637	0.001000	0.08648	0.029000	0.11900	0.605000	0.24179	0.240000	0.21263	0.561000	0.74099	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				36	36		118	116	1		1			0	0	29	0		1	0	0	0	0	0	0	36	118
SMTNL2	342527	broad.mit.edu	37	17	4496307	4496307	+	Missense_Mutation	SNP	C	C	T	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	ENST00000389313.4	+	3	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTCCTTGCGGCTGCCCCA	0.622																																						ENST00000389313.4	1.000000	0.760000	1	9.100000e-01	0.990000	0.968426	0.990000	1.000000																										0				13						c.(571-573)Cgg>Tgg		smoothelin-like 2							60.0	61.0	60.0					17																	4496307		2203	4300	6503	SO:0001583	missense	342527	442	121394	58				g.chr17:4496307C>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.571C>T	chr17.hg19:g.4496307C>T	ENSP00000373964:p.Arg191Trp	0					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	p.R191W	NM_001114974.1	NP_001108446.1	1	2	3	2.017774	Q2TAL5	SMTL2_HUMAN		3	638	+			Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	1	0	hg19	c.571C>T	CCDS45583.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886283	0.51908	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82619	-1.63;-1.63	5.36	3.33	0.38152	5.36	3.33	0.38152	.	.	.	.	.	T	0.80539	0.4642	L	0.53249	1.67	0.27916	N	0.938427	D	0.62365	0.991	B	0.43623	0.425	T	0.73014	-0.4116	9	0.72032	D	0.01	-14.6887	12.6341	0.56673	0.0:0.6813:0.3187:0.0	.	191	Q2TAL5	SMTL2_HUMAN	W	47;191	ENSP00000345143:R47W;ENSP00000373964:R191W	ENSP00000345143:R47W	R	+	1	2	2	SMTNL2	4443056	4443056	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	1.130000	0.31393	0.747000	0.32809	0.650000	0.86243	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-3.318793	1	0.170000	NM_198501			32	31		323	319	0		1			0	0	52	0		1	0	0	0	0	0	0	32	323
WNT3	7473	broad.mit.edu	37	17	44845788	44845788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	322					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582																																						ENST00000225512.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(964-966)agG>agA		wingless-type MMTV integration site family, member 3							135.0	117.0	123.0					17																	44845788		2203	4300	6503	SO:0001819	synonymous_variant	7473	0	0					g.chr17:44845788C>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.966G>A	chr17.hg19:g.44845788C>T		0						p.R322R	NM_030753.4	NP_110380.1	1	2	3	2.007770	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	4	1128	-			Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	1	1	hg19	c.966G>A	CCDS11505.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_030753			151	148		574	570	1		1	1		0	0	133	0		1	8.500479e-01	0	4	0	11	0	151	574
MYL4	4635	broad.mit.edu	37	17	45299202	45299202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45299202G>A	ENST00000354968.1	+	5	596	c.468G>A	c.(466-468)cgG>cgA	p.R156R	MYL4_ENST00000393450.1_Silent_p.R156R|MYL4_ENST00000572316.1_Silent_p.R156R|snoU13_ENST00000516279.1_RNA	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAGCTTCGGCACGTCCTTG	0.592																																						ENST00000354968.1	1.000000	0.100000	4.300000e-01	1.700000e-01	0.270000	0.338140	0.270000	0.240000																										0				11						c.(466-468)cgG>cgA		myosin, light chain 4, alkali; atrial, embryonic							97.0	73.0	81.0					17																	45299202		2203	4300	6503	SO:0001819	synonymous_variant	4635	0	0					g.chr17:45299202G>A		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.468G>A	chr17.hg19:g.45299202G>A		0					snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	p.R156R	NM_001002841.1	NP_001002841.1	1	2	3	2.007770	P12829	MYL4_HUMAN		5	596	+			D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	0	1	hg19	c.468G>A	CCDS11510.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-6.715863	1	0.170000	NM_001002841			6	6		284	276	0		1	0		0	0	48	0		9.622787e-01	9.046615e-03	0	0	0	6	0	6	284
ITGB3	3690	broad.mit.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	rs370054364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					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)			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)	GGCTCACCTCGCTGTGACCTG	0.572																																						ENST00000559488.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(187-189)cGc>cAc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	G	HIS/ARG	0,4406		0,0,2203	71.0	64.0	67.0		188	5.9	1.0	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense	3690	5	121412	37				g.chr17:45360742G>A		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.188G>A	chr17.hg19:g.45360742G>A	ENSP00000452786:p.Arg63His	0					ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H	p.R63H	NM_000212.2	NP_000203.2	1	2	3	2.007770	P05106	ITB3_HUMAN		3	204	+			A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	1	1	hg19	c.188G>A	CCDS11511.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	0	C17orf57	42715741	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.378521	1	0.170000	NM_000212			45	44		198	193	1		1	1		0	0	75	0		1	7.940164e-01	0	2	0	13	0	45	198
TBX21	30009	broad.mit.edu	37	17	45811195	45811195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	125					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)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692																																						ENST00000177694.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(373-375)taC>taT		T-box 21							11.0	13.0	12.0					17																	45811195		1874	4094	5968	SO:0001819	synonymous_variant	30009	0	0					g.chr17:45811195C>T	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.375C>T	chr17.hg19:g.45811195C>T		0						p.Y125Y	NM_013351.1	NP_037483.1	1	2	3	2.007770	Q9UL17	TBX21_HUMAN		1	586	+				Silent	SNP	ENST00000177694.1	1	1	hg19	c.375C>T	CCDS11514.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_013351			22	21		70	69	0		1	0		0	0	13	0		9.999995e-01	6.181411e-02	0	0	0	2	0	22	70
OSBPL7	114881	broad.mit.edu	37	17	45886509	45886509	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	701					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)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637																																						ENST00000007414.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2101-2103)ctC>ctA		oxysterol binding protein-like 7							51.0	55.0	54.0					17																	45886509		2203	4300	6503	SO:0001819	synonymous_variant	114881	0	0					g.chr17:45886509G>T	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.2103C>A	chr17.hg19:g.45886509G>T		0					OSBPL7_ENST00000392507.3_Silent_p.L701L	p.L701L	NM_145798.2	NP_665741.1	1	2	3	2.007770	Q9BZF2	OSBL7_HUMAN		20	2294	-			D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	1	1	hg19	c.2103C>A	CCDS11515.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.388143	1	0.170000	NM_017731			63	62		293	287	1		1	1		0	0	64	0		1	8.716801e-01	0	4	0	15	0	63	293
MRPL10	124995	broad.mit.edu	37	17	45904115	45904115	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000351111.2	-	4	425	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MRPL10_ENST00000290208.7_Silent_p.Y150Y|MRPL10_ENST00000414011.1_Silent_p.Y150Y	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537																																						ENST00000351111.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(418-420)taC>taT		mitochondrial ribosomal protein L10							64.0	58.0	60.0					17																	45904115		2203	4300	6503	SO:0001819	synonymous_variant	124995	0	0					g.chr17:45904115G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.420C>T	chr17.hg19:g.45904115G>A		0					MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000290208.7_Silent_p.Y150Y	p.Y140Y	NM_145255.3	NP_660298.2	1	2	3	2.007770	Q7Z7H8	RM10_HUMAN		4	425	-			A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	1	1	hg19	c.420C>T	CCDS11516.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_145255			69	66		310	302	1		1	1		0	0	89	0		1	1	0	43	0	107	0	69	310
LRRC46	90506	broad.mit.edu	37	17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	MRPL10_ENST00000290208.7_5'Flank|MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532																																						ENST00000269025.4	1.000000	0.740000	1	8.600000e-01	0.980000	0.945865	0.980000	1.000000																										0				9						c.(46-48)tGc>tAc		leucine rich repeat containing 46							156.0	147.0	150.0					17																	45909502		2203	4300	6503	SO:0001583	missense	90506	0	0					g.chr17:45909502G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.47G>A	chr17.hg19:g.45909502G>A	ENSP00000269025:p.Cys16Tyr	0					MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000290208.7_5'Flank	p.C16Y	NM_033413.3	NP_219481.1	1	2	3	2.007770	Q96FV0	LRC46_HUMAN		2	410	+			A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	1	1	hg19	c.47G>A	CCDS11518.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644109	0.29246	.	.	ENSG00000141294	ENST00000269025	T	0.75050	-0.9	5.69	3.57	0.40892	5.69	3.57	0.40892	.	0.589593	0.17425	N	0.174671	T	0.53738	0.1815	L	0.27053	0.805	0.29634	N	0.845248	P	0.44877	0.845	B	0.41619	0.361	T	0.54899	-0.8224	10	0.02654	T	1	-4.0105	5.8611	0.18747	0.0979:0.0:0.712:0.1901	.	16	Q96FV0	LRC46_HUMAN	Y	16	ENSP00000269025:C16Y	ENSP00000269025:C16Y	C	+	2	0	0	LRRC46	43264501	43264501	0.980000	0.34600	0.984000	0.44739	0.686000	0.39977	1.122000	0.31295	1.381000	0.46364	0.561000	0.74099	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-13.470450	1	0.170000	NM_033413			54	53		602	592	0		1	1		0	0	128	0		1	5.954907e-02	0	3	0	2	0	54	602
SP2	6668	broad.mit.edu	37	17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	260					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCCTGTGGCTGTGGCTGAG	0.592																																						ENST00000376741.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(778-780)gCt>gAt		Sp2 transcription factor							103.0	109.0	107.0					17																	45994216		2203	4300	6503	SO:0001583	missense	6668	0	0					g.chr17:45994216C>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.779C>A	chr17.hg19:g.45994216C>A	ENSP00000365931:p.Ala260Asp	0					AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	p.A260D	NM_003110.5	NP_003101.3	1	2	3	2.007770	Q02086	SP2_HUMAN		3	916	+			A6NK74	Missense_Mutation	SNP	ENST00000376741.4	1	1	hg19	c.779C>A	CCDS11521.2	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613810	0.87359	.	.	ENSG00000167182	ENST00000376741	T	0.10477	2.87	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.123853	0.56097	D	0.000039	T	0.16085	0.0387	L	0.34521	1.04	0.54753	D	0.999987	D	0.60575	0.988	P	0.51657	0.676	T	0.01440	-1.1354	10	0.30078	T	0.28	.	17.9058	0.88918	0.0:1.0:0.0:0.0	.	260	Q02086	SP2_HUMAN	D	260	ENSP00000365931:A260D	ENSP00000365931:A260D	A	+	2	0	0	SP2	43349215	43349215	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.424000	0.59868	2.768000	0.95171	0.467000	0.42956	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	1	0	1		2	2	2	0		0	0	166		166	163	1	2.060000	-20.000000	1	0.170000	NM_003110			151	147		731	721	1		1	1		0	0	166	0		1	9.999144e-01	0	19	0	47	0	151	731
SP2	6668	broad.mit.edu	37	17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	547					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGCCCATGTGCGCCTGCACAC	0.592																																						ENST00000376741.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1639-1641)Cgc>Tgc		Sp2 transcription factor							175.0	158.0	164.0					17																	46002805		2203	4300	6503	SO:0001583	missense	6668	0	0					g.chr17:46002805C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1639C>T	chr17.hg19:g.46002805C>T	ENSP00000365931:p.Arg547Cys	0					AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	p.R547C	NM_003110.5	NP_003101.3	1	2	3	2.007770	Q02086	SP2_HUMAN		6	1776	+			A6NK74	Missense_Mutation	SNP	ENST00000376741.4	1	1	hg19	c.1639C>T	CCDS11521.2	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415481	0.83449	.	.	ENSG00000167182	ENST00000376741	T	0.25749	1.78	4.87	4.87	0.63330	4.87	4.87	0.63330	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	0.54631	0.1870	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.61806	-0.6987	10	0.87932	D	0	.	16.9362	0.86203	0.0:1.0:0.0:0.0	.	547	Q02086	SP2_HUMAN	C	547	ENSP00000365931:R547C	ENSP00000365931:R547C	R	+	1	0	0	SP2	43357804	43357804	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.873000	0.69644	2.531000	0.85337	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	1	0	1		2	2	2	0		0	0	195		195	192	1	2.060000	-20.000000	1	0.170000	NM_003110			175	173		803	791	1		1	1		0	0	195	0		1	9.999755e-01	0	27	0	43	0	175	803
PNPO	55163	broad.mit.edu	37	17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.6_ENST00000582142.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|RP11-6N17.6_ENST00000580372.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	228					pyridoxine biosynthetic process (GO:0008615)|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)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GCCTGCATGACCGGATAGTCT	0.572											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225573.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(682-684)gaC>gaA		pyridoxamine 5'-phosphate oxidase							80.0	82.0	81.0					17																	46024046		2203	4300	6503	SO:0001583	missense	55163	0	0					g.chr17:46024046C>A	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.684C>A	chr17.hg19:g.46024046C>A	ENSP00000225573:p.Asp228Glu	0		OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E	p.D228E	NM_018129.3	NP_060599.1	1	2	3	2.007770	Q9NVS9	PNPO_HUMAN		7	789	+			B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	1	1	hg19	c.684C>A	CCDS11522.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668792	0.88348	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.22	4.24	0.50183	5.22	4.24	0.50183	Pyridoxine 5&apos (1);Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, conserved site (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.986;0.999	D	0.90007	0.4118	10	0.87932	D	0	-5.5804	13.0283	0.58827	0.0:0.9187:0.0:0.0813	.	185;210;228	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	E	228;185;210;133	ENSP00000225573:D228E;ENSP00000399960:D185E;ENSP00000446182:D210E;ENSP00000437480:D133E	ENSP00000225573:D228E	D	+	3	2	2	PNPO	43379045	43379045	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.934000	0.48956	2.439000	0.82584	0.561000	0.74099	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_018129			100	99		369	364	1		1	1		0	0	98	0		1	1	0	33	0	62	0	100	369
CDK5RAP3	80279	broad.mit.edu	37	17	46052879	46052879	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000338399.4	+	7	619		c.e7-1		CDK5RAP3_ENST00000536708.2_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						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)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572																																						ENST00000338399.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.e7-1		CDK5 regulatory subunit associated protein 3							50.0	54.0	52.0					17																	46052879		2075	4219	6294	SO:0001630	splice_region_variant	80279	0	0					g.chr17:46052879G>A	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.514-1G>A	chr17.hg19:g.46052879G>A		0					RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site		NM_176096.1	NP_788276.1	1	2	3	2.007770	Q96JB5	CK5P3_HUMAN		7	619	+			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	1	1	hg19		CCDS42356.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475090	0.43942	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CDK5RAP3	43407878	43407878	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.986000	0.93492	2.547000	0.85894	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.069850	1	0.170000	NM_176096	Intron		62	62		270	263	1		1	1		0	0	67	0		1	9.416391e-02	0	2	0	1	0	62	270
CDK5RAP3	80279	broad.mit.edu	37	17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000338399.4	+	11	1130	c.1024A>T	c.(1024-1026)Aca>Tca	p.T342S	CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T367S|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	342					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)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATGCCCTGACACTGCTTGA	0.537											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338399.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1024-1026)Aca>Tca		CDK5 regulatory subunit associated protein 3							102.0	96.0	98.0					17																	46056230		1942	4167	6109	SO:0001583	missense	80279	0	0					g.chr17:46056230A>T	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.1024A>T	chr17.hg19:g.46056230A>T	ENSP00000344683:p.Thr342Ser	0		OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T367S	p.T342S	NM_176096.1	NP_788276.1	1	2	3	2.007770	Q96JB5	CK5P3_HUMAN		11	1130	+			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	1	1	hg19	c.1024A>T	CCDS42356.1	1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689435	0.29962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.45276	0.9;0.9	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.329096	0.32935	N	0.005468	T	0.25901	0.0631	N	0.25060	0.705	0.41095	D	0.985628	B;B;B;B	0.26845	0.161;0.097;0.068;0.019	B;B;B;B	0.28991	0.058;0.039;0.097;0.015	T	0.08310	-1.0728	10	0.08599	T	0.76	3.0927	9.5267	0.39169	0.8426:0.0:0.0:0.1574	.	367;255;342;117	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	367;342	ENSP00000438886:T367S;ENSP00000344683:T342S	ENSP00000344683:T342S	T	+	1	0	0	CDK5RAP3	43411229	43411229	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.106000	0.50322	2.168000	0.68352	0.533000	0.62120	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_176096			69	67		372	368	1		1	1		0	0	97	0		1	1	0	99	0	97	0	69	372
COPZ2	51226	broad.mit.edu	37	17	46106511	46106511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46106511T>C	ENST00000006101.4	-	8	519	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						ACCTTCTGGATCACTTGCTGG	0.532																																						ENST00000006101.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999534	0.990000	1.000000																										0				4						c.(520-522)Atc>Gtc		coatomer protein complex, subunit zeta 2							48.0	51.0	50.0					17																	46106511		1933	4142	6075	SO:0001583	missense	51226	0	0					g.chr17:46106511T>C	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.520A>G	chr17.hg19:g.46106511T>C	ENSP00000006101:p.Ile174Val	0					COPZ2_ENST00000584666.1_5'UTR	p.I174V	NM_016429.2	NP_057513.1	1	2	3	2.007770	Q9P299	COPZ2_HUMAN		8	519	-				Missense_Mutation	SNP	ENST00000006101.4	0	1	hg19	c.520A>G		1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.374389	0.24857	.	.	ENSG00000005243	ENST00000006101	.	.	.	4.04	-1.33	0.09172	4.04	-1.33	0.09172	Longin-like (1);AP complex, mu/sigma subunit (1);	0.449517	0.21559	N	0.072601	T	0.17066	0.0410	N	0.03209	-0.39	0.33074	D	0.53575	B	0.02656	0.0	B	0.09377	0.004	T	0.44097	-0.9350	9	0.02654	T	1	-29.0323	9.9016	0.41351	0.0:0.505:0.0:0.495	.	176	Q9P299	COPZ2_HUMAN	V	174	.	ENSP00000006101:I174V	I	-	1	0	0	COPZ2	43461510	43461510	0.993000	0.37304	0.994000	0.49952	0.994000	0.84299	0.260000	0.18424	-0.265000	0.09352	0.448000	0.29417	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-11.482240	1	0.170000	NM_016429			8	8		13	13	1		1	0		0	0	11	0		9.942146e-01	1	0	0	0	141	0	8	13
NFE2L1	4779	broad.mit.edu	37	17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000362042.3	+	2	891	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	92					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592																																						ENST00000362042.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(274-276)aGg>aTg		nuclear factor, erythroid 2-like 1							67.0	71.0	69.0					17																	46128755		2203	4300	6503	SO:0001583	missense	4779	0	0					g.chr17:46128755G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.275G>T	chr17.hg19:g.46128755G>T	ENSP00000354855:p.Arg92Met	0					NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M	p.R92M	NM_003204.2	NP_003195.1	1	2	3	2.007770	Q14494	NF2L1_HUMAN		2	891	+			D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	1	1	hg19	c.275G>T	CCDS11524.1	1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760311	0.31137	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.40225	1.04;1.04	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.79108	0.992;0.948;0.864	T	0.65051	-0.6262	10	0.54805	T	0.06	-11.4946	17.7252	0.88363	0.0:0.0:1.0:0.0	.	92;92;92	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	111;92;92	ENSP00000355190:R92M;ENSP00000350072:R92M	ENSP00000350072:R92M	R	+	2	0	0	NFE2L1	43483754	43483754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.495000	0.84180	0.563000	0.77884	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	0	0	1		15	14	2	1		1	1	133		133	133	1	2.060000	-3.340380	1	0.170000	NM_003204			93	93		450	444	1		1	1		1	0	133	0		1	1	0	123	0	360	0	93	450
NFE2L1	4779	broad.mit.edu	37	17	46133807	46133807	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46133807G>T	ENST00000362042.3	+	3	1186	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	190	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGCGTGAGGTTTTTGACT	0.542																																						ENST00000362042.3	1.000000	0.130000	2.500000e-01	1.500000e-01	0.190000	0.262497	0.190000	0.190000																										0				32						c.(568-570)gaG>gaT		nuclear factor, erythroid 2-like 1							278.0	280.0	279.0					17																	46133807		2203	4300	6503	SO:0001583	missense	4779	0	0					g.chr17:46133807G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.570G>T	chr17.hg19:g.46133807G>T	ENSP00000354855:p.Glu190Asp	0					NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D	p.E190D	NM_003204.2	NP_003195.1	1	2	3	2.007770	Q14494	NF2L1_HUMAN		3	1186	+			D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	0	1	hg19	c.570G>T	CCDS11524.1	0	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409615	0.83340	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.46063	0.88;1.01	5.48	3.48	0.39840	5.48	3.48	0.39840	.	0.098545	0.64402	D	0.000002	T	0.45637	0.1352	L	0.55103	1.725	0.49687	D	0.999813	D;P;P;P;B	0.59767	0.986;0.877;0.787;0.787;0.058	P;B;B;B;B	0.52267	0.694;0.315;0.295;0.197;0.031	T	0.41840	-0.9486	10	0.51188	T	0.08	-28.7338	8.7869	0.34825	0.2391:0.0:0.7609:0.0	.	64;32;190;190;190	F5H1B7;B4DYE1;A3KMG6;Q14494-2;Q14494	.;.;.;.;NF2L1_HUMAN	D	209;190;190;64	ENSP00000350072:E190D;ENSP00000445811:E64D	ENSP00000350072:E190D	E	+	3	2	2	NFE2L1	43488806	43488806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	1.330000	0.45394	0.491000	0.48974	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	0	0	1		18	11	2	2		2	1	391		391	390	1	2.060000	-2.443760	0	0.170000	NM_003204			32	32		1943	1908	0		1	0		2	0	391	0		9.813491e-01	5.068797e-01	0	3	0	644	0	32	1943
NFE2L1	4779	broad.mit.edu	37	17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000362042.3	+	5	1449	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	278	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488																																						ENST00000362042.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(832-834)aGc>aTc		nuclear factor, erythroid 2-like 1							167.0	157.0	161.0					17																	46134725		2203	4300	6503	SO:0001583	missense	4779	0	0					g.chr17:46134725G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.833G>T	chr17.hg19:g.46134725G>T	ENSP00000354855:p.Ser278Ile	0					NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I	p.S278I	NM_003204.2	NP_003195.1	1	2	3	2.007770	Q14494	NF2L1_HUMAN		5	1449	+			D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	1	1	hg19	c.833G>T	CCDS11524.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697822	0.48307	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.20200	2.36;2.09	5.64	4.66	0.58398	5.64	4.66	0.58398	.	0.551536	0.22298	N	0.061915	T	0.20861	0.0502	L	0.54323	1.7	0.35028	D	0.758518	B;P;P;B	0.42409	0.002;0.779;0.773;0.0	B;B;B;B	0.37304	0.006;0.125;0.246;0.002	T	0.25398	-1.0133	10	0.44086	T	0.13	-19.977	13.2897	0.60264	0.0778:0.0:0.9222:0.0	.	122;90;248;278	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	I	297;278;248;122	ENSP00000350072:S248I;ENSP00000445811:S122I	ENSP00000350072:S248I	S	+	2	0	0	NFE2L1	43489724	43489724	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.054000	0.30455	2.820000	0.97059	0.650000	0.86243	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-20.000000	1	0.170000	NM_003204			119	118		618	604	1		1	1		0	0	145	0		1	1	0	192	0	538	0	119	618
CBX1	10951	broad.mit.edu	37	17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000495350.1_Missense_Mutation_p.R85C|CBX1_ENST00000225603.4_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	85					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(253-255)Cgc>Tgc		chromobox homolog 1							88.0	73.0	78.0					17																	46153428		2203	4300	6503	SO:0001583	missense	10951	1	121412	29				g.chr17:46153428G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.253C>T	chr17.hg19:g.46153428G>A	ENSP00000377060:p.Arg85Cys	0					CBX1_ENST00000225603.4_Missense_Mutation_p.R85C|CBX1_ENST00000495350.1_Missense_Mutation_p.R85C	p.R85C	NM_006807.4	NP_006798.1	1	2	3	2.007770	P83916	CBX1_HUMAN		3	733	-			P23197	Missense_Mutation	SNP	ENST00000393408.3	1	1	hg19	c.253C>T	CCDS11525.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383460	0.61845	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.154565	0.39615	U	0.001312	T	0.59487	0.2197	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.55623	-0.8112	9	0.66056	D	0.02	-6.0528	18.9246	0.92540	0.0:0.0:1.0:0.0	.	85	P83916	CBX1_HUMAN	C	85	.	ENSP00000225603:R85C	R	-	1	0	0	CBX1	43508427	43508427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.767000	0.95098	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	1	0	1		2	2	2	0		0	0	62		62	59	1	2.060000	-20.000000	1	0.170000	NM_006807			44	43		156	149	1		1	1		0	0	62	0		1	1	0	41	0	215	0	44	156
ARRB2	409	broad.mit.edu	37	17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	83					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)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667																																						ENST00000269260.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(247-249)Gcc>Acc		arrestin, beta 2							117.0	85.0	96.0					17																	4619793		2203	4300	6503	SO:0001583	missense	409	1	121412	27				g.chr17:4619793G>A		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.247G>A	chr17.hg19:g.4619793G>A	ENSP00000269260:p.Ala83Thr	0					ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000574954.1_5'UTR	p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	1	2	3	2.017774	P32121	ARRB2_HUMAN		5	480	+			B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	1	1	hg19	c.247G>A	CCDS11050.1	1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659378	0.47467	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.55	4.55	0.56014	4.55	4.55	0.56014	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.188432	0.46145	D	0.000315	T	0.22704	0.0548	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B	0.33528	0.254;0.158;0.303;0.416;0.084	B;B;B;B;B	0.25405	0.06;0.008;0.019;0.033;0.013	T	0.04961	-1.0915	10	0.45353	T	0.12	-15.3958	9.9618	0.41701	0.0:0.0:0.7977:0.2023	.	83;68;83;68;83	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	T	83;83;68;84	ENSP00000269260:A83T;ENSP00000341895:A68T	ENSP00000269260:A83T	A	+	1	0	0	ARRB2	4566542	4566542	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.371000	0.80710	0.563000	0.77884	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.725174	1	0.170000	NM_004313			79	79		299	292	0		1	1		0	0	68	0		1	1	0	8	0	139	0	79	299
ARRB2	409	broad.mit.edu	37	17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183					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)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627																																						ENST00000269260.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998436	0.990000	1.000000																										0				7						c.(547-549)Cct>Tct		arrestin, beta 2							43.0	42.0	42.0					17																	4621244		2203	4300	6503	SO:0001583	missense	409	0	0					g.chr17:4621244C>T		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.547C>T	chr17.hg19:g.4621244C>T	ENSP00000269260:p.Pro183Ser	0					ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000574954.1_5'UTR	p.P183S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	1	2	3	2.017774	P32121	ARRB2_HUMAN		8	780	+			B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	1	1	hg19	c.547C>T	CCDS11050.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925126	0.92319	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20463	2.11;2.07	4.77	4.77	0.60923	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.052944	0.85682	D	0.000000	T	0.45397	0.1340	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D	0.76494	0.987;0.985;0.999;0.998;0.974	P;P;D;P;P	0.63381	0.696;0.75;0.914;0.846;0.641	T	0.48714	-0.9011	10	0.72032	D	0.01	-9.2716	15.3396	0.74284	0.0:1.0:0.0:0.0	.	204;168;183;168;183	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	S	183;183;168;184	ENSP00000269260:P183S;ENSP00000341895:P168S	ENSP00000269260:P183S	P	+	1	0	0	ARRB2	4567993	4567993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_004313			23	23		156	154	1		1	1		0	0	54	0		9.999996e-01	1	0	26	0	353	0	23	156
ZMYND15	84225	broad.mit.edu	37	17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	33					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)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGAGCTGTAGGGACTAGCCT	0.582																																						ENST00000433935.1	1.000000	0.340000	9.100000e-01	4.700000e-01	0.640000	0.670473	0.640000	1.000000																										0				18						c.(97-99)Ggg>Tgg		zinc finger, MYND-type containing 15							77.0	74.0	75.0					17																	4643940		2203	4300	6503	SO:0001583	missense	84225	0	0					g.chr17:4643940G>T	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.97G>T	chr17.hg19:g.4643940G>T	ENSP00000391742:p.Gly33Trp	0					ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W	p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	1	2	3	2.017774	Q9H091	ZMY15_HUMAN		2	154	+			B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	1	1	hg19	c.97G>T	CCDS45584.1	0	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274691	0.40194	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.86;0.82	5.28	3.27	0.37495	5.28	3.27	0.37495	.	0.238103	0.29900	N	0.010903	T	0.46171	0.1379	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60117	0.863;0.869	T	0.26883	-1.0090	10	0.87932	D	0	-9.0032	7.5421	0.27744	0.0882:0.1649:0.7469:0.0	.	33;33	B4DXY5;Q9H091	.;ZMY15_HUMAN	W	33	ENSP00000391742:G33W;ENSP00000269289:G33W	ENSP00000269289:G33W	G	+	1	0	0	ZMYND15	4590689	4590689	0.992000	0.36948	0.003000	0.11579	0.785000	0.44390	2.762000	0.47597	0.788000	0.33755	0.655000	0.94253	GGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-2.814664	1	0.170000	NM_032265			12	12		225	221	0		1	0		0	0	41	0		9.990974e-01	1.583602e-01	0	1	0	12	0	12	225
CBX1	10951	broad.mit.edu	37	17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000495350.1_Missense_Mutation_p.L39F|CBX1_ENST00000225603.4_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(115-117)Ctc>Ttc		chromobox homolog 1							280.0	231.0	248.0					17																	46154252		2203	4300	6503	SO:0001583	missense	10951	0	0					g.chr17:46154252G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.115C>T	chr17.hg19:g.46154252G>A	ENSP00000377060:p.Leu39Phe	0					CBX1_ENST00000225603.4_Missense_Mutation_p.L39F|CBX1_ENST00000495350.1_Missense_Mutation_p.L39F	p.L39F	NM_006807.4	NP_006798.1	1	2	3	2.007770	P83916	CBX1_HUMAN		2	595	-			P23197	Missense_Mutation	SNP	ENST00000393408.3	1	1	hg19	c.115C>T	CCDS11525.1	1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964686	0.18583	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.85	4.88	0.63580	5.85	4.88	0.63580	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	T	0.73690	0.3619	L	0.32530	0.975	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.66791	-0.5834	10	0.10902	T	0.67	-11.6346	14.0385	0.64660	0.0739:0.0:0.9261:0.0	.	39	P83916	CBX1_HUMAN	F	39	ENSP00000225603:L39F;ENSP00000377060:L39F;ENSP00000385413:L39F;ENSP00000393179:L39F	ENSP00000225603:L39F	L	-	1	0	0	CBX1	43509251	43509251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	1.478000	0.48253	0.655000	0.94253	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.036247	1	0.170000	NM_006807			124	122		589	574	1		1	1		0	0	123	0		1	1	0	48	0	163	0	124	589
HOXB1	3211	broad.mit.edu	37	17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	254					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)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602																																						ENST00000239174.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(760-762)Cga>Tga		homeobox B1							158.0	163.0	161.0					17																	46607055		2203	4300	6503	SO:0001587	stop_gained	3211	1	121412	36				g.chr17:46607055G>A		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.760C>T	chr17.hg19:g.46607055G>A	ENSP00000355140:p.Arg254*	0					HOXB1_ENST00000577092.1_3'UTR	p.R254*	NM_002144.3	NP_002135.2	1	2	3	2.007770	P14653	HXB1_HUMAN		2	852	-			Q4VB03	Nonsense_Mutation	SNP	ENST00000239174.6	0	1	hg19	c.760C>T	CCDS32675.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.654219	0.96724	.	.	ENSG00000120094	ENST00000239174	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7556	0.69560	0.0:0.0:0.8551:0.1449	.	.	.	.	X	254	.	ENSP00000355140:R254X	R	-	1	2	2	HOXB1	43962054	43962054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.498000	0.35660	2.769000	0.95229	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3	1	0	1		2	2	2	0		0	0	190		190	188	1	2.060000	-2.747199	1	0.170000				213	211		932	917	1		1			0	0	190	0		1	0	0	0	0	0	0	213	932
HOXB1	3211	broad.mit.edu	37	17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	155					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)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607																																						ENST00000239174.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(463-465)Gcc>Acc		homeobox B1							63.0	65.0	64.0					17																	46607804		2203	4300	6503	SO:0001583	missense	3211	0	0					g.chr17:46607804C>T		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.463G>A	chr17.hg19:g.46607804C>T	ENSP00000355140:p.Ala155Thr	0					HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	p.A155T	NM_002144.3	NP_002135.2	1	2	3	2.007770	P14653	HXB1_HUMAN		1	555	-			Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	1	1	hg19	c.463G>A	CCDS32675.1	1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165467	0.06461	.	.	ENSG00000120094	ENST00000239174	D	0.89746	-2.56	4.71	-2.41	0.06562	4.71	-2.41	0.06562	.	0.641465	0.13801	N	0.361835	T	0.67674	0.2918	N	0.05078	-0.115	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.56251	-0.8010	10	0.16896	T	0.51	.	2.011	0.03488	0.2046:0.4212:0.1006:0.2737	.	155	P14653	HXB1_HUMAN	T	155	ENSP00000355140:A155T	ENSP00000355140:A155T	A	-	1	0	0	HOXB1	43962803	43962803	0.001000	0.12720	0.792000	0.32020	0.769000	0.43574	-0.397000	0.07269	-0.017000	0.14103	-0.899000	0.02877	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.451147	1	0.170000				46	46		206	202	1		1			0	0	44	0		1	0	0	0	0	0	0	46	206
HOXB3	3213	broad.mit.edu	37	17	46628044	46628044	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000489475.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3	316					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(946-948)ggC>ggT		homeobox B3							37.0	47.0	44.0					17																	46628044		2203	4300	6503	SO:0001819	synonymous_variant	3213	0	0					g.chr17:46628044G>A		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.948C>T	chr17.hg19:g.46628044G>A		0		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G	p.G316G			1	2	3	2.007770	P14651	HXB3_HUMAN		2	2395	-			A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	1	1	hg19	c.948C>T	CCDS11528.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.312663	1	0.170000				112	109		472	461	0		1	1		0	0	67	0		1	9.297087e-01	0	6	0	15	0	112	472
HOXB3	3213	broad.mit.edu	37	17	46628302	46628302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000470495.1	-	2	2137	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000489475.1_Silent_p.R157R			P14651	HXB3_HUMAN	homeobox B3	230					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTTGATCTGCCGCTCGCTGA	0.612																																						ENST00000470495.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(688-690)cgG>cgA		homeobox B3							101.0	103.0	102.0					17																	46628302		2203	4300	6503	SO:0001819	synonymous_variant	3213	0	0					g.chr17:46628302C>T		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.690G>A	chr17.hg19:g.46628302C>T		0					HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R	p.R230R			1	2	3	2.007770	P14651	HXB3_HUMAN		2	2137	-			A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	1	1	hg19	c.690G>A	CCDS11528.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-20.000000	1	0.170000				148	146		708	697	0		1	1		0	0	183	0		1	9.523808e-01	0	3	0	23	0	148	708
HOXB3	3213	broad.mit.edu	37	17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000470495.1	-	2	2135	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W			P14651	HXB3_HUMAN	homeobox B3	230					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TTGATCTGCCGCTCGCTGAGG	0.612																																						ENST00000470495.1	1.000000	0.770000	1	8.700000e-01	0.980000	0.951016	0.980000	1.000000																										0				30						c.(688-690)Cgg>Tgg		homeobox B3							100.0	103.0	102.0					17																	46628304		2203	4300	6503	SO:0001583	missense	3213	0	0					g.chr17:46628304G>A		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.688C>T	chr17.hg19:g.46628304G>A	ENSP00000417207:p.Arg230Trp	0					HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W	p.R230W			1	2	3	2.007770	P14651	HXB3_HUMAN		2	2135	-			A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	1	1	hg19	c.688C>T	CCDS11528.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241850	0.58995	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	3.43	3.43	0.39272	3.43	3.43	0.39272	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	10.6315	0.45538	0.0:0.0:0.6691:0.3309	.	230	P14651	HXB3_HUMAN	W	230;157;230;230;96;98;98;157;230	ENSP00000417207:R230W;ENSP00000419676:R157W;ENSP00000308252:R230W;ENSP00000420595:R230W;ENSP00000449977:R96W;ENSP00000418035:R98W;ENSP00000438747:R98W;ENSP00000418729:R157W;ENSP00000418892:R230W	ENSP00000308252:R230W	R	-	1	2	2	HOXB3	43983303	43983303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.259000	0.32956	1.954000	0.56735	0.644000	0.83932	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	0	0	1		17	2	2	1		1	1	183		183	182	1	2.060000	-15.960740	1	0.170000				71	70		791	778	0		1	0		1	0	183	0		1	6.456612e-01	0	1	0	25	0	71	791
HOXB3	3213	broad.mit.edu	37	17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000470495.1	-	1	1530	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Intron			P14651	HXB3_HUMAN	homeobox B3	28					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GACATCGAAGCCGAAGCCATT	0.652																																						ENST00000470495.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				30						c.(82-84)gGc>gTc		homeobox B3							35.0	42.0	39.0					17																	46629754		2203	4300	6503	SO:0001583	missense	3213	0	0					g.chr17:46629754C>A		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.83G>T	chr17.hg19:g.46629754C>A	ENSP00000417207:p.Gly28Val	0					HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Intron	p.G28V			1	2	3	2.007770	P14651	HXB3_HUMAN		1	1530	-			A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	1	1	hg19	c.83G>T	CCDS11528.1	1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301237	0.40694	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.94	2.95	0.34219	3.94	2.95	0.34219	.	0.123452	0.53938	U	0.000054	D	0.92410	0.7591	L	0.56340	1.77	0.80722	D	1	D	0.58268	0.982	P	0.53450	0.726	D	0.92047	0.5645	10	0.52906	T	0.07	.	13.8671	0.63594	0.0:0.8458:0.1542:0.0	.	28	P14651	HXB3_HUMAN	V	28	ENSP00000417207:G28V;ENSP00000308252:G28V;ENSP00000420595:G28V;ENSP00000418892:G28V	ENSP00000308252:G28V	G	-	2	0	0	HOXB3	43984753	43984753	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.313000	0.59160	0.986000	0.38683	-0.304000	0.09214	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000				45	45		267	259	1		1	1		0	0	57	0		1	8.045194e-01	0	2	0	18	0	45	267
HOXB5	3215	broad.mit.edu	37	17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	125					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682																																						ENST00000239151.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(373-375)aGc>aAc		homeobox B5							29.0	32.0	31.0					17																	46670671		2203	4300	6503	SO:0001583	missense	3215	0	0					g.chr17:46670671C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.374G>A	chr17.hg19:g.46670671C>T	ENSP00000239151:p.Ser125Asn	0					HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.S125N	NM_002147.3	NP_002138.1	1	2	3	2.007770	P09067	HXB5_HUMAN		1	652	-			B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	1	1	hg19	c.374G>A	CCDS11530.1	1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751490	0.15778	.	.	ENSG00000120075	ENST00000239151	D	0.92595	-3.07	5.31	4.34	0.51931	5.31	4.34	0.51931	.	0.317667	0.37393	N	0.002101	D	0.90024	0.6885	M	0.65498	2.005	0.32462	N	0.544047	B	0.09022	0.002	B	0.09377	0.004	D	0.88061	0.2794	10	0.30078	T	0.28	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	125	P09067	HXB5_HUMAN	N	125	ENSP00000239151:S125N	ENSP00000239151:S125N	S	-	2	0	0	HOXB5	44025670	44025670	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	2.164000	0.42387	1.224000	0.43551	0.455000	0.32223	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				67	67		262	258	1		1	0		0	0	39	0		1	4.372458e-01	0	0	0	7	0	67	262
HOXB7	3217	broad.mit.edu	37	17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCCGCGTCAGGTAGCG	0.557																																						ENST00000239165.7	1.000000	0.710000	1	8.000000e-01	0.910000	0.908061	0.910000	1.000000																										0				8						c.(487-489)aCg>aTg		homeobox B7							96.0	97.0	97.0					17																	46685370		2203	4300	6503	SO:0001583	missense	3217	0	0					g.chr17:46685370G>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.488C>T	chr17.hg19:g.46685370G>A	ENSP00000239165:p.Thr163Met	0					HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.T163M	NM_004502.3	NP_004493.3	1	2	3	2.007770	P09629	HXB7_HUMAN		2	586	-			A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	1	1	hg19	c.488C>T	CCDS11532.1	1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837247	0.71373	.	.	ENSG00000120087	ENST00000239165	D	0.96265	-3.96	4.58	4.58	0.56647	4.58	4.58	0.56647	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065525	0.64402	D	0.000017	D	0.97914	0.9314	H	0.94503	3.545	0.80722	D	1	D	0.58268	0.982	P	0.50659	0.647	D	0.99494	1.0951	10	0.87932	D	0	.	17.1969	0.86895	0.0:0.0:1.0:0.0	.	163	P09629	HXB7_HUMAN	M	163	ENSP00000239165:T163M	ENSP00000239165:T163M	T	-	2	0	0	HOXB7	44040369	44040369	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.795000	0.85887	2.357000	0.79964	0.563000	0.77884	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3	1	0	1		19	3	2	1		1	1	153		153	152	1	2.060000	-14.845960	1	0.170000				68	66		822	804	1		1	1		1	0	153	0		1	7.457268e-01	0	15	0	35	0	68	822
HOXB8	3218	broad.mit.edu	37	17	46691677	46691677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.S130S	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	130					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)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726																																						ENST00000239144.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				11						c.(388-390)tcG>tcA		homeobox B8							9.0	11.0	10.0					17																	46691677		2146	4227	6373	SO:0001819	synonymous_variant	3218	1	119956	27				g.chr17:46691677C>T		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.390G>A	chr17.hg19:g.46691677C>T		0					HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	p.S130S	NM_024016.3	NP_076921.1	1	2	3	2.007770	P17481	HXB8_HUMAN		1	624	-			Q9H1I2	Silent	SNP	ENST00000239144.4	1	1	hg19	c.390G>A	CCDS11533.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				25	25		104	103	0		1			0	0	24	0		9.999999e-01	0	0	0	0	0	0	25	104
HOXB8	3218	broad.mit.edu	37	17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	96					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)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692																																						ENST00000239144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(286-288)Cta>Ata		homeobox B8							51.0	50.0	51.0					17																	46691781		2203	4298	6501	SO:0001583	missense	3218	0	0					g.chr17:46691781G>T		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.286C>A	chr17.hg19:g.46691781G>T	ENSP00000239144:p.Leu96Ile	0					HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.2_Intron	p.L96I	NM_024016.3	NP_076921.1	1	2	3	2.007770	P17481	HXB8_HUMAN		1	520	-			Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	1	1	hg19	c.286C>A	CCDS11533.1	1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181819	0.38511	.	.	ENSG00000120068	ENST00000239144	T	0.42900	0.96	2.97	2.97	0.34412	2.97	2.97	0.34412	.	0.000000	0.50627	U	0.000116	T	0.47284	0.1437	L	0.31664	0.95	0.44635	D	0.997615	D	0.58268	0.982	D	0.67548	0.952	T	0.30995	-0.9959	10	0.19147	T	0.46	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	96	P17481	HXB8_HUMAN	I	96	ENSP00000239144:L96I	ENSP00000239144:L96I	L	-	1	2	2	HOXB8	44046780	44046780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.894000	0.63206	1.685000	0.51034	0.290000	0.19541	CTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3	1	0	0		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000				67	67		320	314	0		1			0	0	82	0		1	0	0	0	0	0	0	67	320
HOXB9	3219	broad.mit.edu	37	17	46703204	46703204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	ENST00000311177.5	-	1	635	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	143					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGCCTCCCTGCCCGCCGAAGT	0.602																																						ENST00000311177.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(427-429)gGc>gTc		homeobox B9							36.0	41.0	39.0					17																	46703204		2203	4300	6503	SO:0001583	missense	3219	0	0					g.chr17:46703204C>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.428G>T	chr17.hg19:g.46703204C>A	ENSP00000309439:p.Gly143Val	0					HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron	p.G143V	NM_024017.4	NP_076922.1	1	2	3	2.007770	P17482	HXB9_HUMAN		1	635	-			B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	1	1	hg19	c.428G>T	CCDS11534.1	1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390960	0.42410	.	.	ENSG00000170689	ENST00000311177	D	0.93712	-3.27	4.74	4.74	0.60224	4.74	4.74	0.60224	Hox9, N-terminal activation domain (1);	0.123056	0.50627	D	0.000110	D	0.92645	0.7663	M	0.68952	2.095	0.80722	D	1	P	0.38048	0.616	B	0.42163	0.378	D	0.91624	0.5313	10	0.33940	T	0.23	.	13.9224	0.63940	0.0:0.7195:0.2805:0.0	.	143	P17482	HXB9_HUMAN	V	143	ENSP00000309439:G143V	ENSP00000309439:G143V	G	-	2	0	0	HOXB9	44058203	44058203	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.691000	0.25467	2.323000	0.78572	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				58	52		252	249	0		1	0		0	0	75	0		1	0	0	0	0	1	0	58	252
VMO1	284013	broad.mit.edu	37	17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A	rs367858537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	87						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632																																						ENST00000328739.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998625	0.990000	1.000000																										0				11						c.(259-261)gCg>gTg		vitelline membrane outer layer 1 homolog (chicken)		G	VAL/ALA,VAL/ALA,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	691.0	626.0	648.0		260,260,,260	3.6	0.0	17		648	0,8600		0,0,4300	no	missense,missense,intron,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	64,64,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,,benign	87/115,87/103,,87/203	4689283	1,13005	2203	4300	6503	SO:0001583	missense	284013	2	121412	31				g.chr17:4689283G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.260C>T	chr17.hg19:g.4689283G>A	ENSP00000328397:p.Ala87Val	0					VMO1_ENST00000416307.2_Missense_Mutation_p.A87V|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000354194.4_Intron	p.A87V	NM_182566.2	NP_872372.1	1	2	3	2.017774	Q7Z5L0	VMO1_HUMAN		2	339	-			C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	1	1	hg19	c.260C>T	CCDS11055.1	1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000625	0.19121	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.61	0.41365	4.58	3.61	0.41365	.	0.887861	0.09976	N	0.731644	T	0.28896	0.0717	L	0.29908	0.895	0.42351	D	0.992372	P;B;B	0.35807	0.522;0.019;0.142	B;B;B	0.30572	0.117;0.008;0.015	T	0.04029	-1.0983	10	0.34782	T	0.22	-5.9681	8.7249	0.34463	0.1042:0.0:0.8958:0.0	.	87;87;87	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	87	ENSP00000328397:A87V;ENSP00000390450:A87V;ENSP00000408166:A87V	ENSP00000328397:A87V	A	-	2	0	0	VMO1	4636023	4636023	0.001000	0.12720	0.010000	0.14722	0.009000	0.06853	0.885000	0.28227	1.161000	0.42604	-0.219000	0.12488	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.319429	1	0.170000	NM_182566			28	27		199	194	1		1	0		0	0	54	0		1	9.999807e-01	0	0	0	125	0	28	199
TTLL6	284076	broad.mit.edu	37	17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393382.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1054-1056)aTa>aCa		tubulin tyrosine ligase-like family, member 6							322.0	224.0	257.0					17																	46868909		2203	4300	6503	SO:0001583	missense	284076	0	0					g.chr17:46868909A>G	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1055T>C	chr17.hg19:g.46868909A>G	ENSP00000377043:p.Ile352Thr	0		OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	p.I352T	NM_001130918.1	NP_001124390.1	1	2	3	2.007770				9	1196	-				Missense_Mutation	SNP	ENST00000393382.3	1	1	hg19	c.1055T>C	CCDS45724.1	1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896390	0.72639	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.271733	0.34110	N	0.004252	T	0.77274	0.4106	M	0.67700	2.07	0.40567	D	0.981267	P;D;D	0.71674	0.749;0.998;0.986	P;D;P	0.72625	0.657;0.978;0.76	T	0.80141	-0.1506	9	0.72032	D	0.01	.	15.3639	0.74503	1.0:0.0:0.0:0.0	.	304;105;45	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	352;45;30;304	.	ENSP00000302547:I45T	I	-	2	0	0	TTLL6	44223908	44223908	1.000000	0.71417	0.849000	0.33467	0.363000	0.29612	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_173623			79	78		275	273	1		1			0	0	78	0		1	0	0	0	0	0	0	79	275
IGF2BP1	10642	broad.mit.edu	37	17	47075176	47075176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	23	RRM 1. {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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGTGTTTGCGGAGCACAAGA	0.602																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(67-69)gcG>gcA		insulin-like growth factor 2 mRNA binding protein 1							111.0	107.0	108.0					17																	47075176		2203	4300	6503	SO:0001819	synonymous_variant	10642	0	0					g.chr17:47075176G>A	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.69G>A	chr17.hg19:g.47075176G>A		0					RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	p.A23A	NM_006546.3	NP_006537.3	1	2	3	2.007770	Q9NZI8	IF2B1_HUMAN		1	403	+			C9JT33	Silent	SNP	ENST00000290341.3	1	1	hg19	c.69G>A	CCDS11543.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.729650	1	0.170000	NM_006546			140	135		485	477	1		1			0	0	109	0		1	0	0	0	0	0	0	140	485
IGF2BP1	10642	broad.mit.edu	37	17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	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	175					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCTCGGGGTCAGCCCCGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(523-525)gGt>gAt		insulin-like growth factor 2 mRNA binding protein 1							30.0	36.0	34.0					17																	47115652		2203	4300	6503	SO:0001583	missense	10642	0	0					g.chr17:47115652G>A	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.524G>A	chr17.hg19:g.47115652G>A	ENSP00000290341:p.Gly175Asp	0					IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	p.G175D	NM_006546.3	NP_006537.3	1	2	3	2.007770	Q9NZI8	IF2B1_HUMAN		6	858	+			C9JT33	Missense_Mutation	SNP	ENST00000290341.3	1	1	hg19	c.524G>A	CCDS11543.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785170	0.90282	.	.	ENSG00000159217	ENST00000290341	T	0.21361	2.01	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.061482	0.64402	D	0.000005	T	0.32406	0.0828	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.04333	-1.0959	10	0.15952	T	0.53	-6.896	19.0998	0.93269	0.0:0.0:1.0:0.0	.	175	Q9NZI8	IF2B1_HUMAN	D	175	ENSP00000290341:G175D	ENSP00000290341:G175D	G	+	2	0	0	IGF2BP1	44470651	44470651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.565000	0.73974	2.585000	0.87301	0.655000	0.94253	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	0		2	2	2	0		0	0	53		53	50	1	2.060000	-20.000000	1	0.170000	NM_006546			74	74		292	285	1		1			0	0	53	0		1	0	0	0	0	0	0	74	292
IGF2BP1	10642	broad.mit.edu	37	17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	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	182					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGGCTCACCTGTGGCAGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(544-546)Cct>Tct		insulin-like growth factor 2 mRNA binding protein 1							23.0	28.0	27.0					17																	47115672		2203	4298	6501	SO:0001583	missense	10642	0	0					g.chr17:47115672C>T	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.544C>T	chr17.hg19:g.47115672C>T	ENSP00000290341:p.Pro182Ser	0					IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	p.P182S	NM_006546.3	NP_006537.3	1	2	3	2.007770	Q9NZI8	IF2B1_HUMAN		6	878	+			C9JT33	Missense_Mutation	SNP	ENST00000290341.3	1	1	hg19	c.544C>T	CCDS11543.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295090	0.60086	.	.	ENSG00000159217	ENST00000290341	T	0.20463	2.07	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.42744	1.35	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.08953	-1.0697	10	0.10377	T	0.69	-6.9982	19.0998	0.93269	0.0:1.0:0.0:0.0	.	182	Q9NZI8	IF2B1_HUMAN	S	182	ENSP00000290341:P182S	ENSP00000290341:P182S	P	+	1	0	0	IGF2BP1	44470671	44470671	1.000000	0.71417	0.693000	0.30195	0.993000	0.82548	6.029000	0.70895	2.585000	0.87301	0.655000	0.94253	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	0		2	2	2	0		0	0	46		46	43	1	2.060000	-20.000000	1	0.170000	NM_006546			59	56		236	232	0		1			0	0	46	0		1	0	0	0	0	0	0	59	236
IGF2BP1	10642	broad.mit.edu	37	17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	519	KH 4. {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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1555-1557)Gct>Act		insulin-like growth factor 2 mRNA binding protein 1							98.0	86.0	90.0					17																	47123649		2203	4300	6503	SO:0001583	missense	10642	0	0					g.chr17:47123649G>A	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.1555G>A	chr17.hg19:g.47123649G>A	ENSP00000290341:p.Ala519Thr	0					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	p.A519T	NM_006546.3	NP_006537.3	1	2	3	2.007770	Q9NZI8	IF2B1_HUMAN		14	1889	+			C9JT33	Missense_Mutation	SNP	ENST00000290341.3	1	1	hg19	c.1555G>A	CCDS11543.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.680623	0.96774	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.54071	0.59;0.59	5.65	5.65	0.86999	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.82	T	0.77747	-0.2472	10	0.66056	D	0.02	-13.076	19.5069	0.95121	0.0:0.0:1.0:0.0	.	380;519	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	519;380	ENSP00000290341:A519T;ENSP00000389135:A380T	ENSP00000290341:A519T	A	+	1	0	0	IGF2BP1	44478648	44478648	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.614000	0.98353	2.941000	0.99782	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_006546			60	60		341	332	1		1			0	0	94	0		1	0	0	0	0	0	0	60	341
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6	1.000000	0.660000	1	7.900000e-01	0.930000	0.909381	0.930000	1.000000																										0				31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338	1	121412	36				g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	chr17.hg19:g.4712837G>A	ENSP00000263088:p.Arg202His	0					RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	1	2	3	2.017774	O14939	PLD2_HUMAN		7	736	+			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	1	1	hg19	c.605G>A	CCDS11057.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	0	PLD2	4659801	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	1		20	6	2	1		1	1	76		76	75	1	2.060000	-2.806910	1	0.170000	NM_002663			37	37		443	433	0		1	1		1	0	76	0		9.914814e-01	6.071438e-01	0	15	0	66	0	37	443
PLD2	5338	broad.mit.edu	37	17	4720350	4720350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	567	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647																																						ENST00000263088.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1699-1701)aaG>aaA		phospholipase D2	Choline(DB00122)						91.0	84.0	87.0					17																	4720350		2203	4300	6503	SO:0001630	splice_region_variant	5338	0	0					g.chr17:4720350G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1701+1G>A	chr17.hg19:g.4720350G>A		0					PLD2_ENST00000572940.1_Splice_Site_p.K567K	p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	1	2	3	2.017774	O14939	PLD2_HUMAN		16	1832	+			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Splice_Site	SNP	ENST00000263088.6	1	0	hg19	c.1701G>A	CCDS11057.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-3.637521	1	0.170000	NM_002663	Silent		131	127		511	504	1		1	0		0	0	108	0		1	9.999999e-01	0	0	0	89	0	131	511
PLD2	5338	broad.mit.edu	37	17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	826					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488																																						ENST00000263088.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2476-2478)Gca>Aca		phospholipase D2	Choline(DB00122)						114.0	112.0	112.0					17																	4725101		2203	4300	6503	SO:0001583	missense	5338	0	0					g.chr17:4725101G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2476G>A	chr17.hg19:g.4725101G>A	ENSP00000263088:p.Ala826Thr	0					PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	p.A826T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	1	2	3	2.017774	O14939	PLD2_HUMAN		24	2607	+			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	1	1	hg19	c.2476G>A	CCDS11057.1	1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.073206	0.36566	.	.	ENSG00000129219	ENST00000263088	T	0.07021	3.23	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.058029	0.64402	D	0.000002	T	0.12263	0.0298	M	0.70595	2.14	0.46874	D	0.999236	B;B	0.20550	0.046;0.017	B;B	0.22753	0.041;0.019	T	0.03463	-1.1034	10	0.27082	T	0.32	-14.3174	13.3112	0.60380	0.0:0.0:1.0:0.0	.	815;826	O14939-2;O14939	.;PLD2_HUMAN	T	826	ENSP00000263088:A826T	ENSP00000263088:A826T	A	+	1	0	0	PLD2	4672067	4672067	1.000000	0.71417	0.992000	0.48379	0.541000	0.35023	4.468000	0.60162	2.532000	0.85374	0.457000	0.33378	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_002663			114	111		532	514	1		1	1		0	0	149	0		1	9.999997e-01	0	42	0	57	0	114	532
IGF2BP1	10642	broad.mit.edu	37	17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H|AC105030.1_ENST00000578722.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	563	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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3	1.000000	0.610000	1	8.200000e-01	0.990000	0.936190	0.990000	1.000000																										0				31						c.(1687-1689)caG>caT		insulin-like growth factor 2 mRNA binding protein 1							128.0	93.0	105.0					17																	47126761		2203	4300	6503	SO:0001583	missense	10642	0	0					g.chr17:47126761G>T	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.1689G>T	chr17.hg19:g.47126761G>T	ENSP00000290341:p.Gln563His	0					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H|AC105030.1_ENST00000578722.1_RNA	p.Q563H	NM_006546.3	NP_006537.3	1	2	3	2.007770	Q9NZI8	IF2B1_HUMAN		15	2023	+			C9JT33	Missense_Mutation	SNP	ENST00000290341.3	1	1	hg19	c.1689G>T	CCDS11543.1	1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127641	0.20959	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.14;1.4	5.0	4.03	0.46877	5.0	4.03	0.46877	.	0.139400	0.49916	D	0.000134	T	0.30417	0.0764	L	0.47716	1.5	0.48511	D	0.999665	P;B	0.46277	0.875;0.005	B;B	0.41510	0.359;0.009	T	0.04153	-1.0973	10	0.26408	T	0.33	-15.2867	10.7342	0.46115	0.0899:0.0:0.9101:0.0	.	424;563	C9JT33;Q9NZI8	.;IF2B1_HUMAN	H	563;424	ENSP00000290341:Q563H;ENSP00000389135:Q424H	ENSP00000290341:Q563H	Q	+	3	2	2	IGF2BP1	44481760	44481760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.254000	0.43214	1.451000	0.47736	0.563000	0.77884	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.586710	1	0.170000	NM_006546			14	14		145	144	0		1			0	0	41	0		9.997898e-01	0	0	0	0	0	0	14	145
ZNF652	22834	broad.mit.edu	37	17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	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)			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)			CTGGTGAAGCTTTTGCCACAG	0.463																																						ENST00000362063.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1345-1347)Agc>Cgc		zinc finger protein 652							51.0	50.0	50.0					17																	47376251		2203	4300	6503	SO:0001583	missense	22834	0	0					g.chr17:47376251T>G	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.1345A>C	chr17.hg19:g.47376251T>G	ENSP00000354686:p.Ser449Arg	0					ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	p.S449R	NM_014897.2	NP_055712.1	1	2	3	2.007770	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)	6	1663	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	1	1	hg19	c.1345A>C	CCDS32677.1	1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801187	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.81	2.6	0.31112	4.81	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041428	0.85682	D	0.000000	T	0.12178	0.0296	N	0.25992	0.78	0.49915	D	0.999832	D	0.56746	0.977	P	0.59357	0.856	T	0.03566	-1.1024	10	0.51188	T	0.08	-15.5289	8.741	0.34558	0.0:0.157:0.0:0.843	.	449	Q9Y2D9	ZN652_HUMAN	R	449	ENSP00000354686:S449R;ENSP00000416305:S449R	ENSP00000354686:S449R	S	-	1	0	0	ZNF652	44731250	44731250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.351000	0.24027	0.402000	0.26972	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_014897			59	56		197	191	1		1	1		0	0	44	0		1	9.966472e-01	0	9	0	23	0	59	197
ZNF652	22834	broad.mit.edu	37	17	47394317	47394317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CCAGGTACCAGCGAGTGTTAA	0.498																																						ENST00000362063.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(769-771)cgC>cgT		zinc finger protein 652							175.0	147.0	157.0					17																	47394317		2203	4300	6503	SO:0001819	synonymous_variant	22834	0	0					g.chr17:47394317G>A	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.771C>T	chr17.hg19:g.47394317G>A		0					ZNF652_ENST00000430262.2_Silent_p.R257R	p.R257R	NM_014897.2	NP_055712.1	1	2	3	2.007770	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)	2	1089	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	1	1	hg19	c.771C>T	CCDS32677.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	0	0	0		2	3	2	1		1	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_014897			101	101		391	382	1		1	1		1	0	83	0		1	9.219877e-01	0	10	0	16	0	101	391
ZNF652	22834	broad.mit.edu	37	17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	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)			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)			CCTGGGGCACTTCTCACAGGT	0.488																																						ENST00000362063.2	1.000000	0.840000	1	9.800000e-01	0.990000	0.986022	0.990000	1.000000																										0				20						c.(745-747)aAg>aCg		zinc finger protein 652							174.0	146.0	155.0					17																	47394342		2203	4300	6503	SO:0001583	missense	22834	0	0					g.chr17:47394342T>G	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.746A>C	chr17.hg19:g.47394342T>G	ENSP00000354686:p.Lys249Thr	0					ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	p.K249T	NM_014897.2	NP_055712.1	1	2	3	2.007770	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)	2	1064	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	1	1	hg19	c.746A>C	CCDS32677.1	1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833468	0.71258	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.52295	0.67;0.67	5.59	5.59	0.84812	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.11789	0.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.66056	D	0.02	-21.598	15.4338	0.75125	0.0:0.0:0.0:1.0	.	249	Q9Y2D9	ZN652_HUMAN	T	249	ENSP00000354686:K249T;ENSP00000416305:K249T	ENSP00000354686:K249T	K	-	2	0	0	ZNF652	44749341	44749341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.132000	0.65825	0.533000	0.62120	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_014897			44	44		417	408	0		1	1		0	0	78	0		1	6.371828e-01	0	5	0	17	0	44	417
ZNF652	22834	broad.mit.edu	37	17	47394623	47394623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394623C>A	ENST00000362063.2	-	2	783	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	155	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CACTCTCTTCCTCTTCCTCCT	0.413																																						ENST00000362063.2	1.000000	0.130000	2.900000e-01	1.700000e-01	0.210000	0.285364	0.210000	0.210000																										0				20						c.(463-465)gaG>gaT		zinc finger protein 652							142.0	150.0	147.0					17																	47394623		2203	4300	6503	SO:0001583	missense	22834	0	0					g.chr17:47394623C>A	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.465G>T	chr17.hg19:g.47394623C>A	ENSP00000354686:p.Glu155Asp	0					ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	p.E155D	NM_014897.2	NP_055712.1	1	2	3	2.007770	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)	2	783	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	0	1	hg19	c.465G>T	CCDS32677.1	0	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454423	0.12283	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98947	-5.26;-5.26	5.22	3.17	0.36434	5.22	3.17	0.36434	.	0.261665	0.44688	N	0.000430	D	0.94673	0.8282	L	0.29908	0.895	0.34843	D	0.740911	B	0.02656	0.0	B	0.06405	0.002	D	0.91675	0.5353	10	0.15499	T	0.54	-18.6572	5.9346	0.19158	0.1395:0.6514:0.1349:0.0741	.	155	Q9Y2D9	ZN652_HUMAN	D	155	ENSP00000354686:E155D;ENSP00000416305:E155D	ENSP00000354686:E155D	E	-	3	2	2	ZNF652	44749622	44749622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.287000	0.33284	1.404000	0.46819	0.655000	0.94253	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	0	0	1		2	2	2	0		0	0	172		172	169	1	2.060000	-2.153755	0	0.170000	NM_014897			19	18		1041	1006	0		1	0		0	0	172	0		9.999865e-01	6.036725e-02	0	0	0	21	0	19	1041
NGFR	4804	broad.mit.edu	37	17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	407	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)			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)					GCCCTGCGCCGCATCCAGCGA	0.701																																						ENST00000172229.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999833	0.990000	1.000000																										0				17						c.(1219-1221)cGc>cAc		nerve growth factor receptor							15.0	15.0	15.0					17																	47590307		2189	4284	6473	SO:0001583	missense	4804	9	120716	33				g.chr17:47590307G>A	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.1220G>A	chr17.hg19:g.47590307G>A	ENSP00000172229:p.Arg407His	0					NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	p.R407H	NM_002507.3	NP_002498.1	1	2	3	2.007770	P08138	TNR16_HUMAN		6	1345	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	1	1	hg19	c.1220G>A	CCDS11549.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683884	0.88639	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85484	-1.99;-1.99	4.55	3.56	0.40772	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.583643	0.16384	N	0.216771	D	0.83820	0.5337	L	0.33485	1.01	0.38279	D	0.942384	D	0.71674	0.998	P	0.61533	0.89	T	0.82532	-0.0410	10	0.42905	T	0.14	-40.3266	5.5062	0.16856	0.2816:0.0:0.7184:0.0	.	407	P08138	TNR16_HUMAN	H	407;313	ENSP00000172229:R407H;ENSP00000421731:R313H	ENSP00000172229:R407H	R	+	2	0	0	NGFR	44945306	44945306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.814000	0.48010	2.233000	0.73108	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1	1	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-20.000000	1	0.170000				26	26		149	148	0		1	0		0	0	20	0		1	1.714787e-01	0	0	0	5	0	26	149
MINK1	50488	broad.mit.edu	37	17	4796848	4796848	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672																																						ENST00000355280.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(2518-2520)ggC>ggT		misshapen-like kinase 1							46.0	57.0	54.0					17																	4796848		1975	4138	6113	SO:0001819	synonymous_variant	50488	0	0					g.chr17:4796848C>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2520C>T	chr17.hg19:g.4796848C>T		0					MINK1_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	p.G840G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	1	2	3	2.017774				21	2716	+				Silent	SNP	ENST00000355280.6	1	1	hg19	c.2520C>T	CCDS45588.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_015716			47	47		174	170	1		1	1		0	0	48	0		1	1	0	28	0	198	0	47	174
CHRNE	1145	broad.mit.edu	37	17	4804099	4804099	+	Silent	SNP	C	C	T	rs374156332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					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)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGCCCAGGAGCGGCACGCTCA	0.632																																						ENST00000293780.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				12						c.(904-906)ccG>ccA		cholinergic receptor, nicotinic, epsilon (muscle)	Galantamine(DB00674)	C	,	1,4405		0,1,2202	41.0	42.0	41.0		906,	-3.9	1.0	17		41	0,8600		0,0,4300	no	coding-synonymous,utr-3	CHRNE,C17orf107	NM_000080.3,NM_001145536.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	302/494,	4804099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1145	2	121372	30				g.chr17:4804099C>T	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.906G>A	chr17.hg19:g.4804099C>T		0					C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	p.P302P	NM_000080.3	NP_000071.1	1	2	3	2.017774	Q04844	ACHE_HUMAN		8	916	-			D3DTK6	Silent	SNP	ENST00000293780.4	1	1	hg19	c.906G>A	CCDS11058.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.368610	1	0.170000				30	30		128	127	1		1	1		0	0	28	0		1	9.632987e-01	0	2	0	24	0	30	128
FAM117A	81558	broad.mit.edu	37	17	47841426	47841426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	ENST00000240364.2	-	1	103	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	8										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ctccgcctctgccgcccgctg	0.801																																						ENST00000240364.2	1.000000	0.560000	1	8.500000e-01	0.990000	0.944666	0.990000	1.000000																										0				17						c.(22-24)ggC>ggT		family with sequence similarity 117, member A							5.0	7.0	6.0					17																	47841426		980	2175	3155	SO:0001819	synonymous_variant	81558	0	0					g.chr17:47841426G>A	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.24C>T	chr17.hg19:g.47841426G>A		0					FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	p.G8G	NM_030802.3	NP_110429.1	1	2	3	2.007770	Q9C073	F117A_HUMAN		1	103	-			B7Z7Q3	Silent	SNP	ENST00000240364.2	0	1	hg19	c.24C>T	CCDS11553.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.801	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-16.198880	1	0.170000	NM_030802			7	7		62	58	0		1			0	0	11	0		9.782865e-01	0	0	0	0	0	0	7	62
ITGA3	3675	broad.mit.edu	37	17	48156190	48156190	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	ENST00000320031.8	+	19	2630	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	767					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCCTAGGGTAAATCACCGG	0.557																																						ENST00000320031.8	1.000000	0.240000	5.200000e-01	3.100000e-01	0.390000	0.447904	0.390000	0.380000																										0				31						c.(2299-2301)gTa>gCa		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							91.0	96.0	94.0					17																	48156190		2203	4300	6503	SO:0001583	missense	3675	0	0					g.chr17:48156190T>C	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2300T>C	chr17.hg19:g.48156190T>C	ENSP00000315190:p.Val767Ala	0					ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	1	2	3	2.007770	P26006	ITA3_HUMAN		19	2630	+			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	1	1	hg19	c.2300T>C	CCDS11558.1	0	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685036	0.29872	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.52057	0.68;0.68	4.53	3.4	0.38934	4.53	3.4	0.38934	Integrin alpha-2 (1);	0.842530	0.10865	N	0.625632	T	0.36991	0.0987	L	0.37697	1.125	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.09596	-1.0667	10	0.34782	T	0.22	.	8.3475	0.32281	0.1758:0.0:0.0:0.8242	.	767;767	P26006-1;P26006	.;ITA3_HUMAN	A	767;753;767	ENSP00000007722:V767A;ENSP00000315190:V767A	ENSP00000007722:V767A	V	+	2	0	0	ITGA3	45511189	45511189	0.998000	0.40836	0.992000	0.48379	0.805000	0.45488	1.301000	0.33447	0.830000	0.34757	0.402000	0.26972	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	0	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-3.654503	1	0.170000	NM_005501			21	20		626	614	0		1	1		0	0	104	0		9.999969e-01	9.999743e-01	0	30	0	482	0	21	626
ITGA3	3675	broad.mit.edu	37	17	48158697	48158697	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	948					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGACCGAGTCCGGGTAAATG	0.547																																						ENST00000320031.8	1.000000	0.690000	1	9.900000e-01	0.990000	0.975916	0.990000	1.000000																										0				31						c.(2842-2844)gtC>gtA		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							83.0	61.0	68.0					17																	48158697		2203	4298	6501	SO:0001819	synonymous_variant	3675	0	0					g.chr17:48158697C>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2844C>A	chr17.hg19:g.48158697C>A		0					ITGA3_ENST00000007722.7_Silent_p.V948V	p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	1	2	3	2.007770	P26006	ITA3_HUMAN		23	3174	+			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	0	1	hg19	c.2844C>A	CCDS11558.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-13.705840	1	0.170000	NM_005501			7	7		48	45	1		1	1		0	0	14	0		9.791784e-01	1	0	312	0	493	0	7	48
PDK2	5164	broad.mit.edu	37	17	48172856	48172856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	ENST00000503176.1	+	1	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	19					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)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGCCCAAGTACATAGAGCACT	0.677									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				20						c.(55-57)taC>taT		pyruvate dehydrogenase kinase, isozyme 2							32.0	34.0	33.0					17																	48172856		2203	4299	6502	SO:0001819	synonymous_variant	5164	0	0		Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	g.chr17:48172856C>T	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.57C>T	chr17.hg19:g.48172856C>T		0					PDK2_ENST00000007708.3_Intron	p.Y19Y	NM_002611.4	NP_002602.2	1	2	3	2.007770	Q15119	PDK2_HUMAN		1	218	+			A8K3A7|B3KNW0|Q6P515|Q9BS05	Silent	SNP	ENST00000503176.1	0	1	hg19	c.57C>T	CCDS11559.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_002611			17	17		64	63	0		1	1		0	0	10	0		9.999814e-01	9.999973e-01	0	26	0	72	0	17	64
PDK2	5164	broad.mit.edu	37	17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000503176.1	+	8	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	259	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)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCCATGAGGGCGACTGTGGAA	0.587									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(775-777)gCg>gTg		pyruvate dehydrogenase kinase, isozyme 2							80.0	69.0	72.0					17																	48185696		2203	4300	6503	SO:0001583	missense	5164	2	121412	27	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	g.chr17:48185696C>T	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.776C>T	chr17.hg19:g.48185696C>T	ENSP00000420927:p.Ala259Val	0					PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	p.A259V	NM_002611.4	NP_002602.2	1	2	3	2.007770	Q15119	PDK2_HUMAN		8	937	+			A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	1	1	hg19	c.776C>T	CCDS11559.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.330950	0.95733	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.58210	0.35;0.35;0.35	4.61	4.61	0.57282	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.124501	0.53938	D	0.000055	D	0.82582	0.5068	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90403	0.4404	10	0.87932	D	0	-6.9618	16.633	0.85039	0.0:1.0:0.0:0.0	.	259	Q15119	PDK2_HUMAN	V	195;259;195	ENSP00000007708:A195V;ENSP00000420927:A259V;ENSP00000425265:A195V	ENSP00000007708:A195V	A	+	2	0	0	PDK2	45540695	45540695	1.000000	0.71417	0.471000	0.27229	0.867000	0.49689	7.734000	0.84928	2.289000	0.77006	0.555000	0.69702	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_002611			32	32		113	113	1		1	1		0	0	39	0		1	9.999998e-01	0	15	0	79	0	32	113
PDK2	5164	broad.mit.edu	37	17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000503176.1	+	11	1358	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	399					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)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGGAGCCCAAGAACACGTCCA	0.667									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998908	0.990000	1.000000																										0				20						c.(1195-1197)aaG>aaT		pyruvate dehydrogenase kinase, isozyme 2							42.0	39.0	40.0					17																	48187434		2202	4299	6501	SO:0001583	missense	5164	0	0		Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	g.chr17:48187434G>T	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.1197G>T	chr17.hg19:g.48187434G>T	ENSP00000420927:p.Lys399Asn	0					SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	p.K399N	NM_002611.4	NP_002602.2	1	2	3	2.007770	Q15119	PDK2_HUMAN		11	1358	+			A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	0	1	hg19	c.1197G>T	CCDS11559.1	1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076449	0.55753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.48522	0.82;0.81	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.244342	0.34507	N	0.003917	T	0.44030	0.1274	L	0.48642	1.525	0.80722	D	1	B	0.23316	0.083	B	0.19666	0.026	T	0.46665	-0.9175	10	0.66056	D	0.02	-22.2114	16.2651	0.82574	0.0:0.0:1.0:0.0	.	399	Q15119	PDK2_HUMAN	N	335;399	ENSP00000007708:K335N;ENSP00000420927:K399N	ENSP00000007708:K335N	K	+	3	2	2	PDK2	45542433	45542433	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.400000	0.73252	2.203000	0.70933	0.462000	0.41574	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999650	1	0.170000	NM_002611			13	13		63	62	1		1	1		0	0	12	0		9.996674e-01	9.999490e-01	0	18	0	79	0	13	63
SAMD14	201191	broad.mit.edu	37	17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627																																						ENST00000330175.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(565-567)cGc>cAc		sterile alpha motif domain containing 14							48.0	45.0	46.0					17																	48193388		2203	4300	6503	SO:0001583	missense	201191	4	121410	36				g.chr17:48193388C>T		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.566G>A	chr17.hg19:g.48193388C>T	ENSP00000329144:p.Arg189His	0					SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	p.R189H	NM_001257359.1	NP_001244288.1	1	2	3	2.007770	Q8IZD0	SAM14_HUMAN		5	883	-			A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	1	1	hg19	c.566G>A	CCDS58562.1	1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323128	0.60634	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.100684	0.35407	N	0.003229	T	0.71937	0.3399	L	0.54323	1.7	0.35594	D	0.807347	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.79773	-0.1662	9	0.87932	D	0	-17.7595	15.5892	0.76512	0.0:1.0:0.0:0.0	.	189;189	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	189;201;189	.	ENSP00000285206:R201H	R	-	2	0	0	SAMD14	45548387	45548387	1.000000	0.71417	0.995000	0.50966	0.258000	0.26162	2.982000	0.49337	2.417000	0.82017	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	1	0	1		2	2	2	0		0	0	45		45	42	1	2.060000	-3.399242	1	0.170000	NM_174920			44	44		208	196	1		1	0		0	0	45	0		1	3.593610e-01	0	1	0	6	0	44	208
PPP1R9B	84687	broad.mit.edu	37	17	48216883	48216883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	ENST00000316878.6	-	8	1926	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	642	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCTCGATGGCCATCTCACCA	0.622																																						ENST00000316878.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1924-1926)Gcc>Acc		protein phosphatase 1, regulatory subunit 9B							137.0	151.0	146.0					17																	48216883		2171	4262	6433	SO:0001583	missense	84687	0	0					g.chr17:48216883C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1924G>A	chr17.hg19:g.48216883C>T	ENSP00000475417:p.Ala642Thr	0					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.A642T	NM_032595.3	NP_115984.3	1	2	3	2.007770	Q96SB3	NEB2_HUMAN		8	1926	-			Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	0	1	hg19	c.1924G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_032595			149	145		587	579	0		1	1		0	0	157	0		1	1	0	44	0	260	0	149	587
PPP1R9B	84687	broad.mit.edu	37	17	48218701	48218701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	ENST00000316878.6	-	6	1659	c.1657A>C	c.(1657-1659)Aca>Cca	p.T553P	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	553	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCAGACTTGTTCCATCCACC	0.627																																						ENST00000316878.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				8						c.(1657-1659)Aca>Cca		protein phosphatase 1, regulatory subunit 9B							50.0	53.0	52.0					17																	48218701		2048	4181	6229	SO:0001583	missense	84687	0	0					g.chr17:48218701T>G	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1657A>C	chr17.hg19:g.48218701T>G	ENSP00000475417:p.Thr553Pro	0					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.T553P	NM_032595.3	NP_115984.3	1	2	3	2.007770	Q96SB3	NEB2_HUMAN		6	1659	-			Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	0	1	hg19	c.1657A>C		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-12.259140	1	0.170000	NM_032595			12	11		35	34	0		1	1		0	0	12	0		9.993821e-01	1	0	31	0	185	0	12	35
SGCA	6442	broad.mit.edu	37	17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T	rs368243053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACAGGTGAGCGGCTGCCTCC	0.652																																						ENST00000262018.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1108-1110)Cgg>Tgg		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	35.0	32.0	33.0		1108,736	3.6	1.0	17		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SGCA	NM_000023.2,NM_001135697.1	101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	370/388,246/264	48252742	1,13003	2203	4299	6502	SO:0001583	missense	6442	1	121384	33				g.chr17:48252742C>T	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.1108C>T	chr17.hg19:g.48252742C>T	ENSP00000262018:p.Arg370Trp	0					HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000513942.1_3'UTR	p.R370W	NM_000023.2	NP_000014.1	1	2	3	2.007770	Q16586	SGCA_HUMAN		9	1144	+			A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	1	1	hg19	c.1108C>T	CCDS32679.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.17|14.17	2.454366|2.454366	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108823|ENSG00000108823	ENST00000504073|ENST00000344627;ENST00000262018;ENST00000543315	.|D;D;D	.|0.98192	.|-4.78;-4.78;-4.78	4.63|4.63	3.57|3.57	0.40892|0.40892	4.63|4.63	3.57|3.57	0.40892|0.40892	.|.	.|0.131881	.|0.46145	.|D	.|0.000315	D|D	0.97620|0.97620	0.9220|0.9220	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.56916	.|0.809;0.786	D|D	0.96109|0.96109	0.9075|0.9075	5|10	.|0.37606	.|T	.|0.19	-25.8703|-25.8703	10.1205|10.1205	0.42618|0.42618	0.3714:0.6285:0.0:0.0|0.3714:0.6285:0.0:0.0	.|.	.|246;370	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	V|W	142|246;370;246	.|ENSP00000345522:R246W;ENSP00000262018:R370W;ENSP00000444539:R246W	.|ENSP00000262018:R370W	A|R	+|+	2|1	0|2	0|2	SGCA|SGCA	45607741|45607741	45607741|45607741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	1.386000|1.386000	0.34419|0.34419	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GCG|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-3.497388	1	0.170000	NM_000023			32	32		141	138	1		1	0		0	0	29	0		1	8.455953e-01	0	0	0	17	0	32	141
COL1A1	1277	broad.mit.edu	37	17	48263816	48263816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1289	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)		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)	TGTTGCAGAAGACTTTGATGG	0.567			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q21.31-q22	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	yes	Osteogenesis imperfecta	M	M	PDGFB, USP6		dermatofibrosarcoma protuberans, aneurysmal bone cyst 	COL1A1/PDGFB(429)	0				71						c.(3865-3867)gtC>gtT		collagen, type I, alpha 1	Collagenase(DB00048)						134.0	127.0	129.0					17																	48263816		2203	4300	6503	SO:0001819	synonymous_variant	1277	0	0					g.chr17:48263816G>A	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.3867C>T	chr17.hg19:g.48263816G>A		0						p.V1289V	NM_000088.3	NP_000079	1	2	3	2.007770	P02452	CO1A1_HUMAN		49	3985	-			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	1	1	hg19	c.3867C>T	CCDS11561.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000				117	111		435	422	1		1	1		0	0	119	0		1	1	0	11	0	7889	0	117	435
COL1A1	1277	broad.mit.edu	37	17	48264045	48264045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264045C>T	ENST00000225964.5	-	48	3888	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1257	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)		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)	ACGGCAGGTGCGGGCGGGGTT	0.647			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5	1.000000	0.370000	6.600000e-01	4.500000e-01	0.530000	0.574343	0.530000	0.520000				Dom	yes			Dom	yes		17	17q21.31-q22	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	yes	Osteogenesis imperfecta	M	M	PDGFB, USP6		dermatofibrosarcoma protuberans, aneurysmal bone cyst 	COL1A1/PDGFB(429)	0				71						c.(3769-3771)cGc>cAc		collagen, type I, alpha 1	Collagenase(DB00048)						68.0	79.0	75.0					17																	48264045		2203	4300	6503	SO:0001583	missense	1277	24	121380	42				g.chr17:48264045C>T	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.3770G>A	chr17.hg19:g.48264045C>T	ENSP00000225964:p.Arg1257His	0						p.R1257H	NM_000088.3	NP_000079	1	2	3	2.007770	P02452	CO1A1_HUMAN		48	3888	-			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	1	0	hg19	c.3770G>A	CCDS11561.1	0	.	.	.	.	.	.	.	.	.	.	C	19.07	3.754969	0.69648	.	.	ENSG00000108821	ENST00000225964	T	0.79352	-1.26	3.93	3.93	0.45458	3.93	3.93	0.45458	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.93096	0.7802	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95957	0.8959	10	0.87932	D	0	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	1257	P02452	CO1A1_HUMAN	H	1257	ENSP00000225964:R1257H	ENSP00000225964:R1257H	R	-	2	0	0	COL1A1	45619044	45619044	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.508000	0.81686	2.005000	0.58758	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	1		2	2	2	0		0	0	143		143	127	1	2.060000	-1.835721	0	0.170000				36	32		775	736	0		1	1		0	0	143	0		1	1	0	5	0	7651	0	36	775
SLC25A11	8402	broad.mit.edu	37	17	4841116	4841116	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	SLC25A11_ENST00000544061.2_Silent_p.L238L|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	289					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(865-867)Ctg>Ttg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							74.0	82.0	79.0					17																	4841116		2203	4300	6503	SO:0001819	synonymous_variant	8402	0	0					g.chr17:4841116G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.865C>T	chr17.hg19:g.4841116G>A		0					RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.L238L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	p.L289L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	1	2	3	2.017774	Q02978	M2OM_HUMAN		8	1205	-			F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	1	1	hg19	c.865C>T	CCDS11059.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_003562			104	102		442	433	1		1	1		0	0	103	0		1	1	0	98	0	263	0	104	442
SLC25A11	8402	broad.mit.edu	37	17	4841499	4841499	+	Silent	SNP	G	G	A	rs200653286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841499G>A	ENST00000225665.7	-	6	1027	c.687C>T	c.(685-687)agC>agT	p.S229S	SLC25A11_ENST00000544061.2_Silent_p.S178S|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	229					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGACAAGACCGCTGATCATGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18484	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7	1.000000	0.130000	5.500000e-01	2.100000e-01	0.340000	0.410282	0.340000	0.290000																										0				10						c.(685-687)agC>agT		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							50.0	48.0	49.0					17																	4841499		2202	4300	6502	SO:0001819	synonymous_variant	8402	9	121408	36				g.chr17:4841499G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.687C>T	chr17.hg19:g.4841499G>A		0					RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.S178S|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	p.S229S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	1	2	3	2.017774	Q02978	M2OM_HUMAN		6	1027	-			F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	0	1	hg19	c.687C>T	CCDS11059.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	0	0	0		2	2	2	0		0	0	33		33	32	1	2.060000	-7.322324	1	0.170000	NM_003562			6	7		231	227	0		1	1		0	0	33	0		9.641434e-01	9.926067e-01	0	15	0	351	0	6	231
COL1A1	1277	broad.mit.edu	37	17	48264896	48264896	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1124	Triple-helical region.		G -> C (in OI2). {ECO:0000269|PubMed:7961597}.		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)		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)	CACCAGGAGAGCCCTGAAGGA	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000				Dom	yes			Dom	yes		17	17q21.31-q22	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	yes	Osteogenesis imperfecta	M	M	PDGFB, USP6		dermatofibrosarcoma protuberans, aneurysmal bone cyst 	COL1A1/PDGFB(429)	0				71						c.(3370-3372)ggC>ggA		collagen, type I, alpha 1	Collagenase(DB00048)						62.0	56.0	58.0					17																	48264896		2203	4300	6503	SO:0001819	synonymous_variant	1277	0	0					g.chr17:48264896G>T	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.3372C>A	chr17.hg19:g.48264896G>T		0						p.G1124G	NM_000088.3	NP_000079	1	2	3	2.007770	P02452	CO1A1_HUMAN		46	3490	-			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	1	1	hg19	c.3372C>A	CCDS11561.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				28	28		133	132	1		1	1		0	0	44	0		1	1	0	13	0	6744	0	28	133
XYLT2	64132	broad.mit.edu	37	17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	612					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642																																						ENST00000017003.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1834-1836)Ccc>Tcc		xylosyltransferase II							43.0	44.0	44.0					17																	48434506		2203	4300	6503	SO:0001583	missense	64132	0	0					g.chr17:48434506C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1834C>T	chr17.hg19:g.48434506C>T	ENSP00000017003:p.Pro612Ser	0					XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	p.P612S	NM_022167.2	NP_071450.2	1	2	3	2.007770	Q9H1B5	XYLT2_HUMAN		9	1883	+	Breast(11;7.18e-19)		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	1	1	hg19	c.1834C>T	CCDS11563.1	1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259545	0.05791	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.07216	3.75;3.21	4.92	2.94	0.34122	4.92	2.94	0.34122	.	0.530450	0.21212	N	0.078289	T	0.02727	0.0082	N	0.03608	-0.345	0.29134	N	0.879486	B	0.02656	0.0	B	0.04013	0.001	T	0.42050	-0.9474	10	0.08381	T	0.77	-11.76	4.6835	0.12747	0.2167:0.6042:0.0:0.1791	.	612	Q9H1B5	XYLT2_HUMAN	S	612	ENSP00000017003:P612S;ENSP00000426501:P612S	ENSP00000017003:P612S	P	+	1	0	0	XYLT2	45789505	45789505	0.986000	0.35501	1.000000	0.80357	0.930000	0.56654	1.831000	0.39141	0.681000	0.31386	0.655000	0.94253	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_022167			39	38		183	183	1		1	1		0	0	43	0		1	9.999996e-01	0	23	0	90	0	39	183
XYLT2	64132	broad.mit.edu	37	17	48437340	48437340	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	762					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632																																						ENST00000017003.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999611	0.990000	1.000000																										0				12						c.(2284-2286)agC>agT		xylosyltransferase II							39.0	27.0	31.0					17																	48437340		2201	4298	6499	SO:0001819	synonymous_variant	64132	0	0					g.chr17:48437340C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2286C>T	chr17.hg19:g.48437340C>T		0					XYLT2_ENST00000507602.1_Intron	p.S762S	NM_022167.2	NP_071450.2	1	2	3	2.007770	Q9H1B5	XYLT2_HUMAN		11	2335	+	Breast(11;7.18e-19)		Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	0	1	hg19	c.2286C>T	CCDS11563.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_022167			15	15		68	68	1		1	1		0	0	18	0		9.999249e-01	9.999905e-01	0	18	0	88	0	15	68
LRRC59	55379	broad.mit.edu	37	17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	24						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225972.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(70-72)Ctc>Atc		leucine rich repeat containing 59							83.0	74.0	77.0					17																	48474609		2203	4300	6503	SO:0001583	missense	55379	0	0					g.chr17:48474609G>T	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.70C>A	chr17.hg19:g.48474609G>T	ENSP00000225972:p.Leu24Ile	0		OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	p.L24I	NM_018509.3	NP_060979.2	1	2	3	2.007770	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)	1	305	-	Breast(11;5.62e-19)		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	1	1	hg19	c.70C>A	CCDS11566.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769440	0.90020	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.15975	0.35	0.58432	D	0.999996	D	0.67145	0.996	D	0.70016	0.967	T	0.61471	-0.7056	10	0.23302	T	0.38	.	14.2164	0.65795	0.0715:0.0:0.9285:0.0	.	24	Q96AG4	LRC59_HUMAN	I	24	ENSP00000225972:L24I	ENSP00000225972:L24I	L	-	1	0	0	LRRC59	45829608	45829608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.457000	0.73505	2.808000	0.96608	0.655000	0.94253	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.069637	1	0.170000	NM_018509			87	87		403	399	1		1	1		0	0	87	0		1	1	0	152	0	360	0	87	403
ACSF2	80221	broad.mit.edu	37	17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000300441.4	+	6	824	c.720G>T	c.(718-720)caG>caT	p.Q240H	ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H|ACSF2_ENST00000427954.2_Missense_Mutation_p.Q265H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	240					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCACACGGCAGCATCTGGACC	0.617																																						ENST00000300441.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(718-720)caG>caT		acyl-CoA synthetase family member 2							89.0	75.0	80.0					17																	48539874		2203	4300	6503	SO:0001583	missense	80221	0	0					g.chr17:48539874G>T	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.720G>T	chr17.hg19:g.48539874G>T	ENSP00000300441:p.Gln240His	0					ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000427954.2_Missense_Mutation_p.Q265H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H	p.Q240H	NM_025149.4	NP_079425.3	1	2	3	2.007770	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)	6	824	+	Breast(11;1.93e-18)		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	1	1	hg19	c.720G>T	CCDS11567.1	1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340395	0.41498	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39592	1.21;1.26;1.07;1.22;1.33	5.57	4.6	0.57074	5.57	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.569399	0.18669	N	0.134492	T	0.58163	0.2103	L	0.50847	1.595	0.40560	D	0.981207	D;D;B;D	0.89917	1.0;1.0;0.074;0.999	D;D;B;D	0.77004	0.989;0.989;0.149;0.983	T	0.57894	-0.7732	10	0.44086	T	0.13	-21.777	14.4944	0.67674	0.0707:0.0:0.9293:0.0	.	227;265;197;240	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	240;80;197;265;227	ENSP00000300441:Q240H;ENSP00000437987:Q80H;ENSP00000425964:Q197H;ENSP00000401831:Q265H;ENSP00000421884:Q227H	ENSP00000300441:Q240H	Q	+	3	2	2	ACSF2	45894873	45894873	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	2.175000	0.42491	1.354000	0.45846	0.563000	0.77884	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_025149			74	71		341	330	1		1	1		0	0	74	0		1	9.997733e-01	0	11	0	48	0	74	341
CHAD	1101	broad.mit.edu	37	17	48545740	48545740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	145					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				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)			GGTTGACCAGCGGGGAGAGCA	0.627																																						ENST00000508540.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(433-435)ccG>ccA		chondroadherin							42.0	41.0	42.0					17																	48545740		2203	4300	6503	SO:0001819	synonymous_variant	1101	0	0					g.chr17:48545740C>T	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.435G>A	chr17.hg19:g.48545740C>T		0					ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000258969.4_Silent_p.P145P	p.P145P	NM_001267.2	NP_001258.2	1	2	3	2.007770	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)	1	587	-	Breast(11;1.93e-18)		A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	1	1	hg19	c.435G>A	CCDS11568.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.232951	1	0.170000	NM_001267			60	58		316	313	0		1	0		0	0	59	0		1	2.639918e-02	0	0	0	2	0	60	316
CHAD	1101	broad.mit.edu	37	17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	22					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				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)			TGGGGGCAGGCGGCCAGCGCC	0.682																																						ENST00000508540.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(64-66)Gcc>Acc		chondroadherin							22.0	21.0	21.0					17																	48546111		2203	4299	6502	SO:0001583	missense	1101	0	0					g.chr17:48546111C>T	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.64G>A	chr17.hg19:g.48546111C>T	ENSP00000423812:p.Ala22Thr	0					ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T	p.A22T	NM_001267.2	NP_001258.2	1	2	3	2.007770	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)	1	216	-	Breast(11;1.93e-18)		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	1	1	hg19	c.64G>A	CCDS11568.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113910	0.56398	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	D;D	0.96745	-4.11;-4.11	4.31	4.31	0.51392	4.31	4.31	0.51392	Leucine-rich repeat-containing N-terminal (2);	0.119263	0.56097	D	0.000023	D	0.95408	0.8509	L	0.40543	1.245	0.44643	D	0.997625	D	0.63880	0.993	P	0.53593	0.73	D	0.93851	0.7145	10	0.20519	T	0.43	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	22	O15335	CHAD_HUMAN	T	22	ENSP00000423812:A22T;ENSP00000258969:A22T	ENSP00000258969:A22T	A	-	1	0	0	CHAD	45901110	45901110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.388000	0.66249	2.232000	0.73038	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_001267			26	25		78	75	0		1			0	0	15	0		1	0	0	0	0	0	0	26	78
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_5'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597																																						ENST00000268933.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(163-165)Gaa>Aaa		epsin 3							92.0	85.0	87.0					17																	48614080		2203	4300	6503	SO:0001583	missense	55040	0	0					g.chr17:48614080G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.163G>A	chr17.hg19:g.48614080G>A	ENSP00000268933:p.Glu55Lys	0					RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	p.E55K	NM_017957.2	NP_060427.2	1	2	3	2.007770	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)	2	742	+	Breast(11;1.23e-18)		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	1	1	hg19	c.163G>A	CCDS11570.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.262270	0.95368	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000507709;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.48522	0.81;0.81;0.85;0.81;0.81	5.28	5.28	0.74379	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.168407	0.51477	D	0.000086	T	0.76378	0.3979	M	0.91768	3.24	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	T	0.82216	-0.0567	10	0.72032	D	0.01	-26.6736	18.5277	0.90978	0.0:0.0:1.0:0.0	.	110;110;55	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	55;55;110;110;16;55;55;55	ENSP00000268933:E55K;ENSP00000426762:E55K;ENSP00000439512:E110K;ENSP00000422601:E55K;ENSP00000421515:E55K	ENSP00000268933:E55K	E	+	1	0	0	EPN3	45969079	45969079	1.000000	0.71417	0.979000	0.43373	0.703000	0.40648	9.869000	0.99810	2.468000	0.83385	0.561000	0.74099	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-3.144969	1	0.170000	NM_017957			77	74		421	414	1		1	0		0	0	113	0		1	6.623455e-01	0	1	0	13	0	77	421
EPN3	55040	broad.mit.edu	37	17	48618173	48618173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000268933.3	+	7	1578	c.999G>A	c.(997-999)gaG>gaA	p.E333E	EPN3_ENST00000537145.1_Silent_p.E361E|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.R221K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	333	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGAACACAGAGGCCAGTGGAT	0.617																																						ENST00000268933.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(997-999)gaG>gaA		epsin 3							57.0	58.0	58.0					17																	48618173		2203	4300	6503	SO:0001819	synonymous_variant	55040	0	0					g.chr17:48618173G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.999G>A	chr17.hg19:g.48618173G>A		0					RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000541226.1_Missense_Mutation_p.R221K	p.E333E	NM_017957.2	NP_060427.2	1	2	3	2.007770	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)	7	1578	+	Breast(11;1.23e-18)		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	1	1	hg19	c.999G>A	CCDS11570.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078386	0.36662	.	.	ENSG00000049283	ENST00000541226	T	0.40756	1.02	5.23	2.1	0.27182	5.23	2.1	0.27182	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.23082	N	0.998326	.	.	.	.	.	.	T	0.27938	-1.0059	6	0.06625	T	0.88	-7.9673	1.5035	0.02481	0.2435:0.145:0.4619:0.1496	.	.	.	.	K	221	ENSP00000440540:R221K	ENSP00000440540:R221K	R	+	2	0	0	EPN3	45973172	45973172	0.069000	0.21087	0.996000	0.52242	0.866000	0.49608	0.119000	0.15626	0.216000	0.20781	0.555000	0.69702	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_017957			60	58		295	293	1		1	1		0	0	72	0		1	3.419176e-01	0	2	0	5	0	60	295
CACNA1G	8913	broad.mit.edu	37	17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000359106.5	+	17	3361	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1121					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)			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)	CAGCCTGAAGCGGAGAAGCCC	0.687																																						ENST00000359106.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997346	0.990000	1.000000																										0				47						c.(3361-3363)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19.0	27.0	24.0					17																	48676891		2032	4162	6194	SO:0001583	missense	8913	0	0					g.chr17:48676891C>T	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.3361C>T	chr17.hg19:g.48676891C>T	ENSP00000352011:p.Arg1121Trp	0					CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W	p.R1121W	NM_018896.4	NP_061496.2	1	2	3	2.007770	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	17	3361	+	Breast(11;6.7e-17)		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	Missense_Mutation	SNP	ENST00000359106.5	1	1	hg19	c.3361C>T	CCDS45730.1	1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887994	0.72410	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.065248	0.64402	D	0.000006	D	0.91696	0.7375	M	0.73217	2.22	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	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;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;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.995;0.997;0.996;0.999;0.997;0.994;0.999;0.994;0.995;0.999;0.994;0.995;0.999;0.992;0.996;0.982;0.977;0.999;0.995;0.988;0.987;0.999;0.982;0.99;0.992	D	0.92762	0.6225	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1098;1121;1121;1121;1121;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121;1098;1121;1098;1098;1098;1098;1121;1098;1121	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	1098;1098;1121;1098;1098;1098;1121;1121;1098;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121	ENSP00000353990:R1098W;ENSP00000339302:R1098W;ENSP00000392390:R1121W;ENSP00000347078:R1098W;ENSP00000409759:R1098W;ENSP00000425522:R1098W;ENSP00000426261:R1121W;ENSP00000425451:R1121W;ENSP00000422407:R1098W;ENSP00000426814:R1121W;ENSP00000427238:R1121W;ENSP00000423112:R1121W;ENSP00000420918:R1121W;ENSP00000426172:R1121W;ENSP00000423045:R1121W;ENSP00000427173:R1098W;ENSP00000426098:R1121W;ENSP00000425698:R1121W;ENSP00000426232:R1121W;ENSP00000423317:R1121W;ENSP00000350979:R1098W;ENSP00000352011:R1121W;ENSP00000414388:R1121W;ENSP00000423155:R1121W;ENSP00000422268:R1121W;ENSP00000421518:R1121W	ENSP00000339302:R1098W	R	+	1	2	2	CACNA1G	46031890	46031890	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.372000	0.44257	2.322000	0.78497	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-9.469366	1	0.170000	NM_018896			12	12		65	64	1		1			0	0	13	0		9.993246e-01	0	0	0	0	0	0	12	65
CACNA1G	8913	broad.mit.edu	37	17	48677208	48677208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000359106.5	+	17	3678	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000352832.5_Silent_p.D1203D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000442258.2_Silent_p.D1203D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1226					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)			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)	ACGCCGATGACGAGGGCAACC	0.652																																						ENST00000359106.5	1.000000	0.900000	1	9.900000e-01	0.990000	0.994599	0.990000	1.000000																										0				47						c.(3676-3678)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20.0	23.0	22.0					17																	48677208		1998	4146	6144	SO:0001819	synonymous_variant	8913	6	120738	34				g.chr17:48677208C>T	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.3678C>T	chr17.hg19:g.48677208C>T		0					CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000352832.5_Silent_p.D1203D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D	p.D1226D	NM_018896.4	NP_061496.2	1	2	3	2.007770	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	17	3678	+	Breast(11;6.7e-17)		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	0	1	hg19	c.3678C>T	CCDS45730.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_018896			21	21		158	155	1		1	0		0	0	23	0		9.999980e-01	0	0	1	0	0	0	21	158
CACNA1G	8913	broad.mit.edu	37	17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000359106.5	+	27	4796	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1599					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)			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)	GACTACTCCCGCTTCCGGCTC	0.632																																						ENST00000359106.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(4795-4797)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						61.0	64.0	63.0					17																	48692758		2036	4192	6228	SO:0001583	missense	8913	1	120980	29				g.chr17:48692758G>A	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.4796G>A	chr17.hg19:g.48692758G>A	ENSP00000352011:p.Arg1599His	0					CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H	p.R1599H	NM_018896.4	NP_061496.2	1	2	3	2.007770	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	27	4796	+	Breast(11;6.7e-17)		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	Missense_Mutation	SNP	ENST00000359106.5	1	1	hg19	c.4796G>A	CCDS45730.1	1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476722	0.26511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	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	0.97016	-4.05;-4.05;-4.0;-4.06;-4.05;-4.08;-4.2;-4.18;-4.16;-4.21;-4.03;-4.02;-4.15;-4.04;-4.01;-4.08;-4.06;-4.03;-4.1;-4.05;-4.02;-4.09;-4.03;-4.08;-4.08	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.126247	0.48767	D	0.000168	D	0.95758	0.8620	N	0.26162	0.8	0.35461	D	0.796521	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;B	0.89917	0.998;0.013;0.998;0.999;0.999;1.0;1.0;0.074;1.0;0.016;0.061;0.027;0.018;0.061;1.0;0.016;0.496;0.063;0.131;0.027;0.999;0.007;0.128;0.016;0.006	D;B;P;D;D;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B	0.80764	0.976;0.006;0.834;0.994;0.932;0.904;0.992;0.023;0.992;0.003;0.011;0.013;0.006;0.011;0.904;0.006;0.034;0.013;0.023;0.014;0.984;0.006;0.018;0.006;0.002	D	0.96457	0.9338	10	0.39692	T	0.17	.	11.288	0.49232	0.0848:0.0:0.9152:0.0	.	1542;1554;1547;1581;1554;1581;1606;1565;1599;1588;1599;1576;1588;1588;1581;1588;1599;1576;1599;1565;1558;1565;1576;1599;1565	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1576;1565;1565;1558;1576;1588;1554;1542;1547;1565;1599;1588;1554;1599;1565;1599;1581;1588;1606;1565;1599;1581;1581;1599;1588	ENSP00000353990:R1576H;ENSP00000339302:R1565H;ENSP00000347078:R1565H;ENSP00000409759:R1558H;ENSP00000425522:R1576H;ENSP00000426261:R1588H;ENSP00000425451:R1554H;ENSP00000422407:R1542H;ENSP00000426814:R1547H;ENSP00000427238:R1565H;ENSP00000423112:R1599H;ENSP00000420918:R1588H;ENSP00000426172:R1554H;ENSP00000423045:R1599H;ENSP00000427173:R1565H;ENSP00000426098:R1599H;ENSP00000425698:R1581H;ENSP00000426232:R1588H;ENSP00000423317:R1606H;ENSP00000350979:R1565H;ENSP00000352011:R1599H;ENSP00000414388:R1581H;ENSP00000423155:R1581H;ENSP00000422268:R1599H;ENSP00000421518:R1588H	ENSP00000339302:R1565H	R	+	2	0	0	CACNA1G	46047757	46047757	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	1.308000	0.33528	2.170000	0.68504	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_018896			48	47		166	156	1		1	0		0	0	50	0		1	0	0	0	0	1	0	48	166
CACNA1G	8913	broad.mit.edu	37	17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000359106.5	+	37	6255	c.6255G>T	c.(6253-6255)caG>caT	p.Q2085H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2085					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)			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)	TTCACTCCCAGCCAGCAGATA	0.637																																						ENST00000359106.5	1.000000	0.610000	1	9.800000e-01	0.990000	0.965180	0.990000	1.000000																										0				47						c.(6253-6255)caG>caT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						34.0	32.0	33.0					17																	48701746		1992	4156	6148	SO:0001583	missense	8913	0	0					g.chr17:48701746G>T	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.6255G>T	chr17.hg19:g.48701746G>T	ENSP00000352011:p.Gln2085His	0					CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H	p.Q2085H	NM_018896.4	NP_061496.2	1	2	3	2.007770	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	37	6255	+	Breast(11;6.7e-17)		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	Missense_Mutation	SNP	ENST00000359106.5	0	1	hg19	c.6255G>T	CCDS45730.1	1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241904	0.58995	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	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	0.98280	-4.62;-4.54;-4.49;-4.56;-4.84;-4.57;-4.73;-4.69;-4.8;-4.72;-4.69;-4.51;-4.77;-4.62;-4.64;-4.66;-4.55;-4.77;-4.59;-4.4;-4.57;-4.59;-4.67;-4.43;-4.43	5.53	3.44	0.39384	5.53	3.44	0.39384	.	47.086200	0.00166	N	0.000000	D	0.98667	0.9553	L	0.55990	1.75	0.39259	D	0.964189	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	0.995;1.0;0.995;0.995;0.998;0.995;0.991;0.999;0.991;0.999;0.998;1.0;1.0;0.996;0.995;0.988;0.997;0.997;0.999;1.0;0.995;0.999;0.999;0.989;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D	0.87578	0.989;0.984;0.983;0.991;0.995;0.921;0.991;0.998;0.991;0.971;0.993;0.993;0.984;0.993;0.974;0.805;0.921;0.992;0.998;0.984;0.989;0.961;0.997;0.854;0.921	D	0.91737	0.5401	10	0.51188	T	0.08	.	10.6152	0.45445	0.165:0.0:0.835:0.0	.	1935;1947;1940;2022;1995;1967;1999;1958;1985;1981;1992;2014;1981;2074;1974;2029;1992;2062;2040;1958;1951;2006;1969;2085;1958	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1969;1958;2051;1951;2014;1981;1947;1935;1940;1958;2040;2074;1995;1985;2006;1992;1967;2029;1999;1958;2085;1974;2022;1992;1981	ENSP00000353990:Q1969H;ENSP00000339302:Q1958H;ENSP00000347078:Q2051H;ENSP00000409759:Q1951H;ENSP00000425522:Q2014H;ENSP00000426261:Q1981H;ENSP00000425451:Q1947H;ENSP00000422407:Q1935H;ENSP00000426814:Q1940H;ENSP00000427238:Q1958H;ENSP00000423112:Q2040H;ENSP00000420918:Q2074H;ENSP00000426172:Q1995H;ENSP00000423045:Q1985H;ENSP00000427173:Q2006H;ENSP00000426098:Q1992H;ENSP00000425698:Q1967H;ENSP00000426232:Q2029H;ENSP00000423317:Q1999H;ENSP00000350979:Q1958H;ENSP00000352011:Q2085H;ENSP00000414388:Q1974H;ENSP00000423155:Q2022H;ENSP00000422268:Q1992H;ENSP00000421518:Q1981H	ENSP00000339302:Q1958H	Q	+	3	2	2	CACNA1G	46056745	46056745	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.273000	0.51623	0.604000	0.29930	-0.367000	0.07326	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-6.136256	1	0.170000	NM_018896			5	5		33	30	1		1			0	0	12	0		9.279983e-01	0	0	0	0	0	0	5	33
CAMTA2	23125	broad.mit.edu	37	17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000348066.3	-	21	3481	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	SPAG7_ENST00000206020.3_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|SPAG7_ENST00000575142.1_5'Flank|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|SPAG7_ENST00000571023.1_5'Flank|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1120	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTGAAATCGCTTCTGTTCA	0.627																																						ENST00000348066.3	1.000000	0.200000	4.900000e-01	2.700000e-01	0.350000	0.423544	0.350000	0.340000																										0				31						c.(3358-3360)Cga>Tga		calmodulin binding transcription activator 2							54.0	62.0	60.0					17																	4872557		2203	4299	6502	SO:0001587	stop_gained	23125	0	0					g.chr17:4872557G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3358C>T	chr17.hg19:g.4872557G>A	ENSP00000321813:p.Arg1120*	0					CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*|RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000571023.1_5'Flank|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*	p.R1120*	NM_015099.3	NP_055914.2	1	2	3	2.017774	O94983	CMTA2_HUMAN		21	3481	-			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	0	1	hg19	c.3358C>T	CCDS11063.1	0	.	.	.	.	.	.	.	.	.	.	G	41	8.559694	0.98863	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.21	3.23	0.37069	4.21	3.23	0.37069	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6456	11.2237	0.48871	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1143;1115;1119;1113;1120	.	ENSP00000321813:R1120X	R	-	1	2	2	CAMTA2	4813281	4813281	0.037000	0.19845	0.997000	0.53966	0.994000	0.84299	0.178000	0.16820	0.969000	0.38237	0.563000	0.77884	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	0	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-3.604062	1	0.170000	NM_015099			17	17		577	563	0		1	0		0	0	112	0		9.999578e-01	7.933965e-01	0	0	0	102	0	17	577
CACNA1G	8913	broad.mit.edu	37	17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000359106.5	+	38	6959	c.6959G>A	c.(6958-6960)gGt>gAt	p.G2320D	CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2193D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2320					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)			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)	GAGAGCCAAGGTCCTCGGACC	0.667											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359106.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999572	0.990000	1.000000																										0				47						c.(6958-6960)gGt>gAt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						17.0	22.0	21.0					17																	48703937		1842	4071	5913	SO:0001583	missense	8913	0	0					g.chr17:48703937G>A	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.6959G>A	chr17.hg19:g.48703937G>A	ENSP00000352011:p.Gly2320Asp	0		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2193D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D	p.G2320D	NM_018896.4	NP_061496.2	1	2	3	2.007770	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	38	6959	+	Breast(11;6.7e-17)		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	Missense_Mutation	SNP	ENST00000359106.5	0	1	hg19	c.6959G>A	CCDS45730.1	1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451879	0.43531	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	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	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.838841	0.10943	N	0.617055	T	0.57417	0.2052	L	0.59436	1.845	0.35367	D	0.788757	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;P;P;D;D;P;D;D;D;D;D	0.89917	1.0;0.913;0.907;1.0;0.997;0.997;1.0;0.895;1.0;0.02;0.02;0.995;0.437;0.019;0.999;0.729;0.949;1.0;0.991;0.57;1.0;0.997;0.997;0.978;1.0	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;B;P;D;P;B;D;D;P;P;D	0.91635	0.998;0.517;0.722;0.999;0.947;0.96;0.999;0.652;0.999;0.012;0.012;0.948;0.119;0.012;0.971;0.334;0.829;0.998;0.889;0.25;0.998;0.947;0.907;0.719;0.997	T	0.61978	-0.6951	10	0.87932	D	0	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	2170;2182;2175;2257;2230;2202;2234;2193;2220;2137;2148;2249;2216;2309;2209;2264;2227;2297;2275;2193;2186;2241;2204;2320;2114	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	D	2204;2193;2286;2186;2249;2216;2182;2170;2175;2193;2275;2309;2230;2220;2241;2227;2202;2264;2234;2114;2320;2209;2257;2148;2137	ENSP00000353990:G2204D;ENSP00000339302:G2193D;ENSP00000347078:G2286D;ENSP00000409759:G2186D;ENSP00000425522:G2249D;ENSP00000426261:G2216D;ENSP00000425451:G2182D;ENSP00000422407:G2170D;ENSP00000426814:G2175D;ENSP00000427238:G2193D;ENSP00000423112:G2275D;ENSP00000420918:G2309D;ENSP00000426172:G2230D;ENSP00000423045:G2220D;ENSP00000427173:G2241D;ENSP00000426098:G2227D;ENSP00000425698:G2202D;ENSP00000426232:G2264D;ENSP00000423317:G2234D;ENSP00000350979:G2114D;ENSP00000352011:G2320D;ENSP00000414388:G2209D;ENSP00000423155:G2257D;ENSP00000422268:G2148D;ENSP00000421518:G2137D	ENSP00000339302:G2193D	G	+	2	0	0	CACNA1G	46058936	46058936	1.000000	0.71417	0.980000	0.43619	0.300000	0.27592	5.458000	0.66679	2.590000	0.87494	0.561000	0.74099	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_018896			18	18		94	93	1		1	0		0	0	15	0		9.999888e-01	0	0	0	0	1	0	18	94
ABCC3	8714	broad.mit.edu	37	17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	42				C -> R (in Ref. 5; CAA76658). {ECO:0000305}.	bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGGGTGCCCTGCATCTACCTG	0.587																																						ENST00000285238.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(124-126)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)						132.0	109.0	117.0					17																	48733272		2203	4300	6503	SO:0001583	missense	8714	0	0					g.chr17:48733272G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.125G>A	chr17.hg19:g.48733272G>A	ENSP00000285238:p.Cys42Tyr	0					ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	p.C42Y	NM_003786.3	NP_003777.2	1	2	3	2.007770	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)	2	205	+			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	1	1	hg19	c.125G>A	CCDS32681.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364654	0.82463	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.59502	0.26;0.26	5.19	4.18	0.49190	5.19	4.18	0.49190	.	0.060583	0.64402	D	0.000003	T	0.77412	0.4126	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.903;0.992	T	0.81906	-0.0718	10	0.87932	D	0	-25.6963	14.6648	0.68899	0.0:0.1459:0.8541:0.0	.	42;42	O15438;O15438-5	MRP3_HUMAN;.	Y	42	ENSP00000395160:C42Y;ENSP00000285238:C42Y	ENSP00000285238:C42Y	C	+	2	0	0	ABCC3	46088271	46088271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.338000	0.65947	2.411000	0.81874	0.650000	0.86243	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-20.000000	1	0.170000	NM_020038			56	54		250	243	1		1	1		0	0	86	0		1	1	0	105	0	120	0	56	250
CAMTA2	23125	broad.mit.edu	37	17	4876933	4876933	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000348066.3	-	13	2271	c.2148C>T	c.(2146-2148)caC>caT	p.H716H	CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000358183.4_Silent_p.H716H|CAMTA2_ENST00000381311.5_Silent_p.H718H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Silent_p.H715H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	716					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642																																						ENST00000348066.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(2146-2148)caC>caT		calmodulin binding transcription activator 2							41.0	43.0	42.0					17																	4876933		2203	4300	6503	SO:0001819	synonymous_variant	23125	0	0					g.chr17:4876933G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2148C>T	chr17.hg19:g.4876933G>A		0					CAMTA2_ENST00000381311.5_Silent_p.H718H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000361571.5_Silent_p.H715H|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000358183.4_Silent_p.H716H	p.H716H	NM_015099.3	NP_055914.2	1	2	3	2.017774	O94983	CMTA2_HUMAN		13	2271	-			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	1	1	hg19	c.2148C>T	CCDS11063.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_015099			36	35		166	161	1		1	1		0	0	44	0		1	9.999915e-01	0	24	0	63	0	36	166
CAMTA2	23125	broad.mit.edu	37	17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000348066.3	-	13	2156	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	678					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597																																						ENST00000348066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2032-2034)cCt>cAt		calmodulin binding transcription activator 2							72.0	65.0	67.0					17																	4877048		2203	4300	6503	SO:0001583	missense	23125	0	0					g.chr17:4877048G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2033C>A	chr17.hg19:g.4877048G>T	ENSP00000321813:p.Pro678His	0					CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H	p.P678H	NM_015099.3	NP_055914.2	1	2	3	2.017774	O94983	CMTA2_HUMAN		13	2156	-			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	1	1	hg19	c.2033C>A	CCDS11063.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564895	0.65651	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32515	2.67;1.69;1.45;1.69;1.46	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.073877	0.56097	D	0.000029	T	0.30634	0.0771	N	0.12182	0.205	0.41702	D	0.989407	B;B;D;D;D	0.61697	0.016;0.029;0.99;0.983;0.986	B;B;P;P;P	0.57620	0.011;0.017;0.824;0.671;0.76	T	0.09357	-1.0678	10	0.44086	T	0.13	-14.7948	13.3308	0.60485	0.0:0.0:1.0:0.0	.	654;701;680;678;677	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	701;680;677;678;678	ENSP00000412886:P701H;ENSP00000370712:P680H;ENSP00000354828:P677H;ENSP00000350910:P678H;ENSP00000321813:P678H	ENSP00000321813:P678H	P	-	2	0	0	CAMTA2	4817772	4817772	0.998000	0.40836	0.440000	0.26846	0.951000	0.60555	1.941000	0.40233	2.528000	0.85240	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_015099			62	61		231	227	1		1	1		0	0	80	0		1	9.999999e-01	0	25	0	70	0	62	231
CAMTA2	23125	broad.mit.edu	37	17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000348066.3	-	9	875	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	251					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000348066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(751-753)tCt>tAt		calmodulin binding transcription activator 2							101.0	110.0	107.0					17																	4883865		2084	4217	6301	SO:0001583	missense	23125	0	0					g.chr17:4883865G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.752C>A	chr17.hg19:g.4883865G>T	ENSP00000321813:p.Ser251Tyr	0		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y	p.S251Y	NM_015099.3	NP_055914.2	1	2	3	2.017774	O94983	CMTA2_HUMAN		9	875	-			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	1	1	hg19	c.752C>A	CCDS11063.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171901	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.44083	2.19;1.24;0.93;1.24;1.01	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	T	0.50565	0.1623	N	0.24115	0.695	0.46927	D	0.999255	D;D;D;D	0.76494	0.999;0.999;0.996;0.997	D;D;D;D	0.91635	0.997;0.999;0.982;0.997	T	0.56165	-0.8024	10	0.87932	D	0	-16.0601	14.9845	0.71336	0.0:0.0:1.0:0.0	.	274;253;251;250	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Y	274;253;250;251;251	ENSP00000412886:S274Y;ENSP00000370712:S253Y;ENSP00000354828:S250Y;ENSP00000350910:S251Y;ENSP00000321813:S251Y	ENSP00000321813:S251Y	S	-	2	0	0	CAMTA2	4824589	4824589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.388000	0.81334	0.650000	0.86243	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_015099			92	85		453	435	1		1	1		0	0	94	0		1	1	0	37	0	90	0	92	453
ABCC3	8714	broad.mit.edu	37	17	48746712	48746712	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGTGGCCAGGGCTCCGTGG	0.607																																						ENST00000285238.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.e17-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)						57.0	56.0	56.0					17																	48746712		2203	4300	6503	SO:0001630	splice_region_variant	8714	0	0					g.chr17:48746712G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2065-1G>T	chr17.hg19:g.48746712G>T		0							NM_003786.3	NP_003777.2	1	2	3	2.007770	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)	17	2144	+			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	ENST00000285238.8	1	1	hg19		CCDS32681.1	1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806506	0.31961	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.35	4.35	0.52113	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ABCC3	46101711	46101711	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.657000	0.98554	2.432000	0.82394	0.305000	0.20034	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.308337	1	0.170000	NM_020038	Intron		56	53		258	253	1		1	0		0	0	75	0		1	2.968886e-01	0	1	0	5	0	56	258
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	rs372115241		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652																																						ENST00000311378.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(1144-1146)cCg>cTg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			LEU/PRO	0,4406		0,0,2203	42.0	40.0	41.0		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense	124857	2	121376	35				g.chr17:48917794C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	chr17.hg19:g.48917794C>T	ENSP00000311184:p.Pro382Leu	0					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	p.P382L	NM_175575.5	NP_783165.1	1	2	3	2.007770	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)	2	1673	+			Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	1	1	hg19	c.1145C>T	CCDS11575.1	1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	0	WFIKKN2	46272793	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_175575			59	59		356	355	1		1			0	0	68	0		1	0	0	0	0	0	0	59	356
INCA1	388324	broad.mit.edu	37	17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T	rs200914054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000574617.1	-	4	471	c.116G>A	c.(115-117)cGt>cAt	p.R39H	INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000572543.1_5'Flank|CAMTA2_ENST00000358183.4_5'Flank|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|CAMTA2_ENST00000348066.3_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000381311.5_5'Flank|CAMTA2_ENST00000361571.5_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	39					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.001	False		,,,				2504	0.0					ENST00000574617.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(115-117)cGt>cAt		inhibitor of CDK, cyclin A1 interacting protein 1							96.0	80.0	86.0					17																	4893489		2203	4300	6503	SO:0001583	missense	388324	6	121412	39				g.chr17:4893489C>T	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.116G>A	chr17.hg19:g.4893489C>T	ENSP00000458316:p.Arg39His	0					RP5-1050D4.4_ENST00000575985.1_RNA|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|CAMTA2_ENST00000381311.5_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H|CAMTA2_ENST00000348066.3_5'Flank|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|CAMTA2_ENST00000572543.1_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000358183.4_5'Flank	p.R39H			1	2	3	2.017774	Q0VD86	INCA1_HUMAN		4	471	-			Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	1	1	hg19	c.116G>A	CCDS54074.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	16.04	3.010900	0.54361	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.37	-1.72	0.08107	4.37	-1.72	0.08107	.	0.578202	0.15947	N	0.236916	T	0.14874	0.0359	N	0.11560	0.145	0.23138	N	0.998238	B;B	0.15141	0.005;0.012	B;B	0.10450	0.003;0.005	T	0.13335	-1.0513	9	0.33141	T	0.24	-0.2663	4.4816	0.11769	0.0:0.3416:0.1808:0.4776	.	39;39	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	H	39	.	ENSP00000347129:R39H	R	-	2	0	0	INCA1	4834213	4834213	0.000000	0.05858	0.802000	0.32245	0.882000	0.50991	-1.769000	0.01792	-0.232000	0.09811	-0.147000	0.13772	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_213726			54	54		224	220	1		1	1		0	0	50	0		1	9.909507e-01	0	13	0	20	0	54	224
KIF1C	10749	broad.mit.edu	37	17	4905925	4905925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	ENST00000320785.5	+	7	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATGGACTGTGGAAATAAAGCA	0.592																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5	1.000000	0.820000	1	9.400000e-01	0.990000	0.977997	0.990000	1.000000																										0				30						c.(595-597)gGa>gAa		kinesin family member 1C							111.0	102.0	105.0					17																	4905925		2203	4300	6503	SO:0001583	missense	10749	0	0					g.chr17:4905925G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.596G>A	chr17.hg19:g.4905925G>A	ENSP00000320821:p.Gly199Glu	0						p.G199E	NM_006612.5	NP_006603.2	1	2	3	2.017774	O43896	KIF1C_HUMAN		7	953	+			D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	1	1	hg19	c.596G>A	CCDS11065.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048994	0.93740	.	.	ENSG00000129250	ENST00000320785	D	0.83837	-1.77	5.43	5.43	0.79202	5.43	5.43	0.79202	Kinesin, motor domain (4);	.	.	.	.	D	0.95114	0.8417	H	0.99117	4.435	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.96978	0.9713	9	0.87932	D	0	.	17.1003	0.86647	0.0:0.0:1.0:0.0	.	199	O43896	KIF1C_HUMAN	E	199	ENSP00000320821:G199E	ENSP00000320821:G199E	G	+	2	0	0	KIF1C	4846649	4846649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.890000	0.87313	2.727000	0.93392	0.561000	0.74099	GGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1	0	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-16.686340	1	0.170000				61	60		625	615	0		1	1		0	0	106	0		1	1	0	45	0	270	0	61	625
WFIKKN2	124857	broad.mit.edu	37	17	48918254	48918254	+	Silent	SNP	C	C	T	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632																																						ENST00000311378.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1603-1605)ggC>ggT		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2		C		0,4406		0,0,2203	56.0	44.0	48.0		1605	-4.1	0.7	17	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WFIKKN2	NM_175575.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		535/577	48918254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124857	3	121406	34				g.chr17:48918254C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1605C>T	chr17.hg19:g.48918254C>T		0					WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	p.G535G	NM_175575.5	NP_783165.1	1	2	3	2.007770	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)	2	2133	+			Q6UXZ9	Silent	SNP	ENST00000311378.4	1	1	hg19	c.1605C>T	CCDS11575.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	1	0	1		2	2	2	0		0	0	44		44	45	1	2.060000	-3.269244	1	0.170000	NM_175575			46	45		207	204	1		1	0		0	0	44	0		1	0	0	0	0	1	0	46	207
SPAG9	9043	broad.mit.edu	37	17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	971					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)				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)			AAGCCACATAGTTGGTAAAAG	0.348																																						ENST00000262013.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2911-2913)aCt>aTt		sperm associated antigen 9							152.0	134.0	140.0					17																	49064500		2203	4300	6503	SO:0001583	missense	9043	0	0					g.chr17:49064500G>A	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.2912C>T	chr17.hg19:g.49064500G>A	ENSP00000262013:p.Thr971Ile	0					SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I	p.T971I	NM_001130528.2	NP_001124000.1	1	2	3	2.007770	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)	22	3120	-			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	1	1	hg19	c.2912C>T	CCDS45740.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.171147	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	5.8	5.8	0.92144	5.8	5.8	0.92144	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.73598	2.24	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	0.69316	-0.5177	10	0.87932	D	0	-15.7473	20.051	0.97627	0.0:0.0:1.0:0.0	.	961;971;957;814	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	I	971;728;718;508;814;961;957;569	ENSP00000262013:T971I;ENSP00000423165:T814I;ENSP00000426900:T961I;ENSP00000349636:T957I	ENSP00000262013:T971I	T	-	2	0	0	SPAG9	46419499	46419499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.773000	0.98989	2.740000	0.93945	0.650000	0.86243	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_003971			83	81		346	337	1		1	1		0	0	88	0		1	1	0	39	0	131	0	83	346
SPAG9	9043	broad.mit.edu	37	17	49075897	49075897	+	Silent	SNP	C	C	T	rs527431717	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000505279.1_Silent_p.T572T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	582					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)				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)			TAACATGAGACGTGGGTGCAT	0.443													C|||	4	0.000798722	0.0	0.0	5008	,	,		16629	0.0		0.0	False		,,,				2504	0.0041					ENST00000262013.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1744-1746)acG>acA		sperm associated antigen 9							181.0	152.0	162.0					17																	49075897		2203	4300	6503	SO:0001819	synonymous_variant	9043	45	121412	47				g.chr17:49075897C>T	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.1746G>A	chr17.hg19:g.49075897C>T		0					SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000357122.4_Silent_p.T568T	p.T582T	NM_001130528.2	NP_001124000.1	1	2	3	2.007770	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)	15	1954	-			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	1	1	hg19	c.1746G>A	CCDS45740.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_003971			85	82		347	340	1		1	1		0	0	74	0		1	1	0	42	0	133	0	85	347
NME1	4830	broad.mit.edu	37	17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000393196.3	+	5	522	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	NME2_ENST00000376392.6_Intron|NME1_ENST00000511355.1_3'UTR|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.G156S|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000555572.1_Intron	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	131					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GAAGGAGATCGGCTTGTGGTT	0.468																																					GBM(176;1298 2890 6639 30062)	ENST00000393196.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(391-393)Ggc>Agc		NME/NM23 nucleoside diphosphate kinase 1	Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)						127.0	115.0	119.0					17																	49239138		2203	4300	6503	SO:0001583	missense	4830	0	0					g.chr17:49239138G>A	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.391G>A	chr17.hg19:g.49239138G>A	ENSP00000376892:p.Gly131Ser	0					NME1_ENST00000336097.3_Missense_Mutation_p.G156S|NME2_ENST00000555572.1_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393198.3_Intron	p.G131S	NM_000269.2	NP_000260.1	1	2	3	2.007770	P15531	NDKA_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)	5	522	+			Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	1	1	hg19	c.391G>A	CCDS11579.1	1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642871	0.14451	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	1.19	0.21007	5.81	1.19	0.21007	.	.	.	.	.	T	0.47173	0.1431	N	0.03209	-0.39	0.21105	N	0.999788	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29822	-0.9999	9	0.27785	T	0.31	-2.5617	6.3414	0.21324	0.3619:0.1399:0.4982:0.0	.	131;156	P15531;P15531-2	NDKA_HUMAN;.	S	131;156;156	ENSP00000376892:G131S;ENSP00000337060:G156S;ENSP00000013034:G156S	ENSP00000013034:G156S	G	+	1	0	0	NME1	46594137	46594137	0.966000	0.33281	0.477000	0.27303	0.325000	0.28411	0.859000	0.27858	0.017000	0.15025	-0.980000	0.02579	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	1	0	1		2	2	2	0		0	0	70		70	58	1	2.060000	-2.930959	1	0.170000	NM_000269			68	68		354	336	1		1	1		0	0	70	0		1	1	0	133	0	421	0	68	354
NME2	4831	broad.mit.edu	37	17	49244308	49244308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000393193.2	+	5	539	c.462G>A	c.(460-462)aaG>aaA	p.K154K	NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000393198.3_Silent_p.K154K|NME2_ENST00000555572.1_Silent_p.K179K			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	39					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGCCATGAAGTTCCTCCGGG	0.667											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(49;809 1203 4404 15246)	ENST00000393193.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(460-462)aaG>aaA		NME/NM23 nucleoside diphosphate kinase 2	Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)						60.0	53.0	55.0					17																	49244308		2203	4299	6502	SO:0001819	synonymous_variant	4831	0	0					g.chr17:49244308G>A	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"""non-metastatic cells 2, protein (NM23B) expressed in"""			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.462G>A	chr17.hg19:g.49244308G>A		0		OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME2_ENST00000555572.1_Silent_p.K179K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000393198.3_Silent_p.K154K	p.K154K			1	2	3	2.007770	P22392	NDKB_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)	5	539	+			A8MWA3|Q1WM23|Q6LCT6	Silent	SNP	ENST00000393193.2	1	1	hg19	c.462G>A	CCDS32682.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000268664.2	0	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_002512			65	63		369	367	0		1	1		0	0	60	0		1	1	0	1193	0	2861	0	65	369
ZFP3	124961	broad.mit.edu	37	17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433																																						ENST00000318833.3	1.000000	0.480000	9.800000e-01	6.000000e-01	0.740000	0.764148	0.740000	1.000000																										0				20						c.(1228-1230)Gtc>Atc		ZFP3 zinc finger protein							70.0	67.0	68.0					17																	4996027		2203	4300	6503	SO:0001583	missense	124961	0	0					g.chr17:4996027G>A	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.1228G>A	chr17.hg19:g.4996027G>A	ENSP00000320347:p.Val410Ile	0						p.V410I	NM_153018.2	NP_694563.1	1	2	3	2.017774	Q96NJ6	ZFP3_HUMAN		2	1564	+			A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	1	1	hg19	c.1228G>A	CCDS11067.1	0	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293593	0.23564	.	.	ENSG00000180787	ENST00000318833	T	0.17854	2.25	3.96	3.0	0.34707	3.96	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005159	T	0.15825	0.0381	N	0.05608	-0.01	0.09310	N	1	P	0.49862	0.929	D	0.63703	0.917	T	0.05599	-1.0875	10	0.33940	T	0.23	-9.5861	6.2776	0.20989	0.2192:0.0:0.7808:0.0	.	410	Q96NJ6	ZFP3_HUMAN	I	410	ENSP00000320347:V410I	ENSP00000320347:V410I	V	+	1	0	0	ZFP3	4936751	4936751	0.000000	0.05858	0.731000	0.30826	0.979000	0.70002	0.231000	0.17872	1.265000	0.44215	0.655000	0.94253	GTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	0	0	1		17	2	2	1		1	1	77		77	76	1	2.060000	-6.358476	1	0.170000	NM_153018			23	22		356	350	0		1	0		1	0	77	0		8.573887e-01	2.439800e-01	0	1	0	14	0	23	356
USP6	9098	broad.mit.edu	37	17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000250066.6_Missense_Mutation_p.V287M|USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	287	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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)			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						CCTGTGGGACGTGTATTTGGT	0.587			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17p13	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)				M	M	COL1A1, CDH11, ZNF9, OMD		aneurysmal bone cysts		0				34						c.(859-861)Gtg>Atg		ubiquitin specific peptidase 6							229.0	214.0	219.0					17																	5040979		2203	4300	6503	SO:0001583	missense	9098	3	121412	40				g.chr17:5040979G>A	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.859G>A	chr17.hg19:g.5040979G>A	ENSP00000460380:p.Val287Met	0					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M|USP6_ENST00000332776.4_Missense_Mutation_p.V287M	p.V287M			1	2	3	2.017774	P35125	UBP6_HUMAN		20	3089	+			Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	1	1	hg19	c.859G>A	CCDS11069.2	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598163	0.46318	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.43294	0.95;0.95	.	.	.	.	.	.	Rab-GAP/TBC domain (4);	1.338740	0.04428	N	0.368799	T	0.42585	0.1209	L	0.46670	1.46	0.80722	D	1	D	0.63046	0.992	P	0.46275	0.51	T	0.47497	-0.9113	8	0.87932	D	0	.	.	.	.	.	287	P35125	UBP6_HUMAN	M	287	ENSP00000328010:V287M;ENSP00000250066:V287M	ENSP00000250066:V287M	V	+	1	0	0	USP6	4981703	4981703	1.000000	0.71417	0.269000	0.24586	0.272000	0.26649	1.918000	0.40006	0.119000	0.18210	0.121000	0.15741	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	1		2	2	2	0		0	0	262		262	259	1	2.060000	-20.000000	1	0.170000	NM_004505			171	171		882	872	1		1	0		0	0	262	0		1	0	0	0	0	1	0	171	882
USP6	9098	broad.mit.edu	37	17	5042848	5042848	+	Silent	SNP	G	G	A	rs61761605	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000250066.6_Silent_p.T459T|USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	459					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)			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						GGCTCCCAACGGACCTGGATA	0.622			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								G|||	9	0.00179712	0.0	0.0	5008	,	,		18153	0.0069		0.0	False		,,,				2504	0.002					ENST00000574788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17p13	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)				M	M	COL1A1, CDH11, ZNF9, OMD		aneurysmal bone cysts		0				34						c.(1375-1377)acG>acA		ubiquitin specific peptidase 6							48.0	56.0	53.0					17																	5042848		2203	4300	6503	SO:0001819	synonymous_variant	9098	33	121412	48				g.chr17:5042848G>A	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.1377G>A	chr17.hg19:g.5042848G>A		0					USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T|USP6_ENST00000332776.4_Silent_p.T459T	p.T459T			1	2	3	2.017774	P35125	UBP6_HUMAN		22	3607	+			Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	1	1	hg19	c.1377G>A	CCDS11069.2	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	0		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_004505			59	59		319	318	1		1			0	0	91	0		1	0	0	0	0	0	0	59	319
USP6	9098	broad.mit.edu	37	17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000250066.6_Missense_Mutation_p.S476N|USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	476					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)			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						TTTGAATGGAGCTGCTGGGTC	0.592			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17p13	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)				M	M	COL1A1, CDH11, ZNF9, OMD		aneurysmal bone cysts		0				34						c.(1426-1428)aGc>aAc		ubiquitin specific peptidase 6							47.0	52.0	51.0					17																	5042898		2203	4300	6503	SO:0001583	missense	9098	0	0					g.chr17:5042898G>A	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.1427G>A	chr17.hg19:g.5042898G>A	ENSP00000460380:p.Ser476Asn	0					USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N|USP6_ENST00000332776.4_Missense_Mutation_p.S476N	p.S476N			1	2	3	2.017774	P35125	UBP6_HUMAN		22	3657	+			Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	1	1	hg19	c.1427G>A	CCDS11069.2	1	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.17213	2.44;2.91;2.29	0.266	0.266	0.15617	0.266	0.266	0.15617	.	0.110616	0.64402	D	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B	0.33000	0.393;0.273	B;B	0.42319	0.383;0.213	T	0.18840	-1.0324	9	0.54805	T	0.06	.	.	.	.	.	159;476	P35125-2;P35125	.;UBP6_HUMAN	N	476;476;159	ENSP00000328010:S476N;ENSP00000250066:S476N;ENSP00000305473:S159N	ENSP00000250066:S476N	S	+	2	0	0	USP6	4983622	4983622	0.463000	0.25799	0.029000	0.17559	0.028000	0.11728	1.033000	0.30191	0.390000	0.25115	0.391000	0.25812	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_004505			71	70		285	281	1		1			0	0	87	0		1	0	0	0	0	0	0	71	285
MBTD1	54799	broad.mit.edu	37	17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	428					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAACCAGTCAGATCCGTCTGC	0.433																																						ENST00000586178.1	1.000000	0.710000	1	8.600000e-01	0.990000	0.949307	0.990000	1.000000																										0				12						c.(1282-1284)tCt>tAt		mbt domain containing 1							117.0	99.0	105.0					17																	49272664		2203	4300	6503	SO:0001583	missense	54799	0	0					g.chr17:49272664G>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1283C>A	chr17.hg19:g.49272664G>T	ENSP00000468304:p.Ser428Tyr	0					MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	p.S428Y	NM_017643.2	NP_060113.2	1	2	3	2.007770	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)	13	1626	-			Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	1	1	hg19	c.1283C>A	CCDS11581.2	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997708	0.93227	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.47177	0.85	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.124037	0.64402	D	0.000020	T	0.64724	0.2624	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64558	-0.6379	10	0.56958	D	0.05	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;264	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	Y	428	ENSP00000403946:S428Y	ENSP00000386072:S428Y	S	-	2	0	0	MBTD1	46627663	46627663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.665000	0.90641	0.643000	0.83706	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				30	30		320	316	0		1	1		0	0	64	0		1	6.279554e-01	0	2	0	22	0	30	320
KIF2B	84643	broad.mit.edu	37	17	51900373	51900373	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900373C>A	ENST00000268919.4	+	0	135					NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B						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)			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						TGGAGCGCTCCCTGATACCTC	0.612																																						ENST00000268919.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				104								kinesin family member 2B							31.0	30.0	30.0					17																	51900373		2203	4300	6503			84643	0	0					g.chr17:51900373C>A	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		chr17.hg19:g.51900373C>A		0							NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		0	135	+			Q96MA2|Q9BXG6	Translation_Start_Site	SNP	ENST00000268919.4	0	1	hg19		CCDS32685.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_032559			29	28		111	111	0		1			0	0	23	0		1	0	0	0	0	0	0	29	111
KIF2B	84643	broad.mit.edu	37	17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	107					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)			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						TCGGCCATCAGGGACCAGCGT	0.607																																						ENST00000268919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(319-321)aGg>aTg		kinesin family member 2B							84.0	92.0	89.0					17																	51900714		2203	4300	6503	SO:0001583	missense	84643	0	0					g.chr17:51900714G>T	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.320G>T	chr17.hg19:g.51900714G>T	ENSP00000268919:p.Arg107Met	0						p.R107M	NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		1	476	+			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	1	1	hg19	c.320G>T	CCDS32685.1	1	.	.	.	.	.	.	.	.	.	.	G	3.971	-0.008450	0.07727	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.11	4.14	0.48551	5.11	4.14	0.48551	.	0.973510	0.08370	N	0.956337	T	0.64148	0.2572	L	0.32530	0.975	0.09310	N	1	P	0.35077	0.483	B	0.31245	0.126	T	0.54523	-0.8281	10	0.44086	T	0.13	.	11.1089	0.48221	0.0897:0.0:0.9103:0.0	.	107	Q8N4N8	KIF2B_HUMAN	M	107;30	ENSP00000268919:R107M	ENSP00000268919:R107M	R	+	2	0	0	KIF2B	49255713	49255713	0.593000	0.26840	0.161000	0.22692	0.009000	0.06853	2.552000	0.45828	2.798000	0.96311	0.655000	0.94253	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-2.863373	1	0.170000	NM_032559			147	146		640	630	1		1			0	0	149	0		1	0	0	0	0	0	0	147	640
KIF2B	84643	broad.mit.edu	37	17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	194					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)			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						GATCGAAGAGTATCGCAGGCA	0.577																																						ENST00000268919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(580-582)Tat>Gat		kinesin family member 2B							76.0	65.0	68.0					17																	51900974		2203	4300	6503	SO:0001583	missense	84643	0	0					g.chr17:51900974T>G	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.580T>G	chr17.hg19:g.51900974T>G	ENSP00000268919:p.Tyr194Asp	0						p.Y194D	NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		1	736	+			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	1	1	hg19	c.580T>G	CCDS32685.1	1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849780	0.51270	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17370	2.28	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.449029	0.18966	N	0.126267	T	0.22244	0.0536	M	0.62723	1.935	0.44771	D	0.997772	P	0.43857	0.819	B	0.39562	0.303	T	0.02805	-1.1108	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	194	Q8N4N8	KIF2B_HUMAN	D	194;117	ENSP00000268919:Y194D	ENSP00000268919:Y194D	Y	+	1	0	0	KIF2B	49255973	49255973	1.000000	0.71417	0.413000	0.26509	0.753000	0.42808	5.369000	0.66138	2.211000	0.71520	0.533000	0.62120	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_032559			75	76		344	339	1		1			0	0	89	0		1	0	0	0	0	0	0	75	344
KIF2B	84643	broad.mit.edu	37	17	51901131	51901131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901131T>C	ENST00000268919.4	+	1	893	c.737T>C	c.(736-738)gTg>gCg	p.V246A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	246	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)			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						GTGGTTATGGTGCATGAGTCC	0.547																																						ENST00000268919.4	1.000000	0.130000	4.800000e-01	2.000000e-01	0.310000	0.372921	0.310000	0.280000																										0				104						c.(736-738)gTg>gCg		kinesin family member 2B							129.0	105.0	113.0					17																	51901131		2203	4300	6503	SO:0001583	missense	84643	0	0					g.chr17:51901131T>C	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.737T>C	chr17.hg19:g.51901131T>C	ENSP00000268919:p.Val246Ala	0						p.V246A	NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		1	893	+			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	0	1	hg19	c.737T>C	CCDS32685.1	0	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327754	0.81690	.	.	ENSG00000141200	ENST00000268919	T	0.18810	2.19	5.63	5.63	0.86233	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000283	T	0.43055	0.1230	M	0.82056	2.57	0.46564	D	0.999102	P	0.46706	0.883	P	0.53722	0.733	T	0.43180	-0.9407	10	0.72032	D	0.01	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	246	Q8N4N8	KIF2B_HUMAN	A	246	ENSP00000268919:V246A	ENSP00000268919:V246A	V	+	2	0	0	KIF2B	49256130	49256130	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.941000	0.87700	2.258000	0.74832	0.533000	0.62120	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-7.982627	1	0.170000	NM_032559			7	7		285	282	0		1			0	0	51	0		9.802274e-01	0	0	0	0	0	0	7	285
KIF2B	84643	broad.mit.edu	37	17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	333	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)			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						GCTCTGGTGGCACAGGATGTC	0.478																																						ENST00000268919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(997-999)gCa>gTa		kinesin family member 2B							108.0	109.0	109.0					17																	51901392		2203	4300	6503	SO:0001583	missense	84643	1	121412	30				g.chr17:51901392C>T	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.998C>T	chr17.hg19:g.51901392C>T	ENSP00000268919:p.Ala333Val	0						p.A333V	NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		1	1154	+			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	1	1	hg19	c.998C>T	CCDS32685.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042862	0.75732	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	5.63	5.63	0.86233	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.115539	0.38326	N	0.001727	T	0.69151	0.3079	L	0.28608	0.87	0.54753	D	0.999983	P	0.37207	0.587	B	0.41174	0.349	T	0.71328	-0.4626	10	0.56958	D	0.05	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	333	Q8N4N8	KIF2B_HUMAN	V	333;221	ENSP00000268919:A333V	ENSP00000268919:A333V	A	+	2	0	0	KIF2B	49256391	49256391	0.998000	0.40836	0.303000	0.25071	0.629000	0.37895	3.740000	0.55082	2.798000	0.96311	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_032559			96	94		443	440	1		1			0	0	100	0		1	0	0	0	0	0	0	96	443
RABEP1	9135	broad.mit.edu	37	17	5268464	5268464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000546142.2	+	11	1903	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000537505.1_Silent_p.E529E|RABEP1_ENST00000262477.6_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	572					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383																																						ENST00000546142.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1714-1716)gaG>gaA		rabaptin, RAB GTPase binding effector protein 1							119.0	111.0	114.0					17																	5268464		1870	4110	5980	SO:0001819	synonymous_variant	9135	0	0					g.chr17:5268464G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1716G>A	chr17.hg19:g.5268464G>A		0					RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000262477.6_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E	p.E572E			1	2	3	2.017774	Q15276	RABE1_HUMAN		11	1903	+			B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	1	1	hg19	c.1716G>A	CCDS45592.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_004703			83	81		357	352	0		1	1		0	0	81	0		1	1	0	23	0	100	0	83	357
RABEP1	9135	broad.mit.edu	37	17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000546142.2	+	14	2219	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	678					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393																																						ENST00000546142.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2032-2034)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 1							139.0	134.0	135.0					17																	5280417		1868	4097	5965	SO:0001583	missense	9135	1	120812	33				g.chr17:5280417C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2032C>T	chr17.hg19:g.5280417C>T	ENSP00000437701:p.Arg678Trp	0					RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W	p.R678W			1	2	3	2.017774	Q15276	RABE1_HUMAN		14	2219	+			B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	1	1	hg19	c.2032C>T	CCDS45592.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848670	0.91277	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.99	4.99	0.66335	4.99	4.99	0.66335	Rabaptin, GTPase-Rab5 binding (1);	0.191631	0.48767	D	0.000179	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;P;P;P;P	0.57679	0.627;0.744;0.825;0.744;0.627	T	0.58719	-0.7587	10	0.87932	D	0	-12.9011	17.8295	0.88677	0.0:1.0:0.0:0.0	.	635;635;671;678;678	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	W	678;678;671;678;678;635	ENSP00000262477:R678W;ENSP00000386150:R678W;ENSP00000437701:R678W;ENSP00000339569:R678W;ENSP00000445408:R635W	ENSP00000262477:R678W	R	+	1	2	2	RABEP1	5221141	5221141	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.308000	0.78929	2.760000	0.94817	0.655000	0.94253	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_004703			158	156		635	626	1		1	1		0	0	141	0		1	1	0	20	0	86	0	158	635
RABEP1	9135	broad.mit.edu	37	17	5284791	5284791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000546142.2	+	17	2665	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_ENST00000537505.1_Silent_p.Q783Q|RABEP1_ENST00000262477.6_Silent_p.Q826Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	826					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458																																						ENST00000546142.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2476-2478)caG>caA		rabaptin, RAB GTPase binding effector protein 1							86.0	87.0	87.0					17																	5284791		1897	4123	6020	SO:0001819	synonymous_variant	9135	0	0					g.chr17:5284791G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2478G>A	chr17.hg19:g.5284791G>A		0					RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000262477.6_Silent_p.Q826Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q	p.Q826Q			1	2	3	2.017774	Q15276	RABE1_HUMAN		17	2665	+			B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	1	1	hg19	c.2478G>A	CCDS45592.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.168293	1	0.170000	NM_004703			46	45		238	235	1		1	1		0	0	67	0		1	9.999901e-01	0	19	0	73	0	46	238
KIF2B	84643	broad.mit.edu	37	17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	373	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)			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						TGGAAGAAGAAGCTGCAAGTC	0.463																																						ENST00000268919.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(1117-1119)aAg>aTg		kinesin family member 2B							121.0	111.0	115.0					17																	51901512		2203	4300	6503	SO:0001583	missense	84643	0	0					g.chr17:51901512A>T	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.1118A>T	chr17.hg19:g.51901512A>T	ENSP00000268919:p.Lys373Met	0						p.K373M	NM_032559.4	NP_115948.4	1	2	3	2.007770	Q8N4N8	KIF2B_HUMAN		1	1274	+			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	1	1	hg19	c.1118A>T	CCDS32685.1	1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101980	0.56183	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.67	4.58	0.56647	5.67	4.58	0.56647	Kinesin, motor domain (4);	0.141109	0.32028	N	0.006692	T	0.78033	0.4220	M	0.74258	2.255	0.41685	D	0.989313	B	0.32365	0.367	B	0.39771	0.309	T	0.79569	-0.1749	10	0.62326	D	0.03	.	7.866	0.29537	0.8597:0.0:0.1403:0.0	.	373	Q8N4N8	KIF2B_HUMAN	M	373;261	ENSP00000268919:K373M	ENSP00000268919:K373M	K	+	2	0	0	KIF2B	49256511	49256511	0.016000	0.18221	0.982000	0.44146	0.928000	0.56348	2.351000	0.44071	2.275000	0.75901	0.533000	0.62120	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_032559			73	68		378	366	1		1			0	0	83	0		1	0	0	0	0	0	0	73	378
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000573584.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L428I(1)	large_intestine(1)	15						c.(1282-1284)Ctt>Att		nucleoporin 88kDa							74.0	70.0	71.0					17																	5302881		2203	4300	6503	SO:0001583	missense	4927	0	0					g.chr17:5302881G>T	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	chr17.hg19:g.5302881G>T	ENSP00000458954:p.Leu428Ile	0						p.L428I	NM_002532.4	NP_002523.2	1	2	3	2.017774	Q99567	NUP88_HUMAN		8	1791	-			D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	1	1	hg19	c.1282C>A	CCDS11070.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	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	0	NUP88	5243605	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	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_002532			43	43		158	156	1		1	1		0	0	52	0		1	9.999997e-01	0	22	0	67	0	43	158
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358																																						ENST00000575882.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1288-1290)gCg>gTg		target of myb1 (chicken)-like 1							92.0	88.0	89.0					17																	53027406		2203	4300	6503	SO:0001630	splice_region_variant	10040	0	0					g.chr17:53027406C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1289-1C>T	chr17.hg19:g.53027406C>T		0					TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V	p.A430V	NM_005486.2	NP_005477.2	1	2	3	2.007770	O75674	TM1L1_HUMAN		14	1642	+			Q53G06|Q8N749	Splice_Site	SNP	ENST00000575882.1	1	0	hg19	c.1289C>T	CCDS11582.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631705	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.23754	1.89;1.89;1.89	5.51	1.23	0.21249	5.51	1.23	0.21249	.	0.658250	0.13744	N	0.365740	T	0.12305	0.0299	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.19445	0.007;0.004;0.036;0.004	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.31138	-0.9954	9	.	.	.	.	5.4075	0.16330	0.0:0.593:0.158:0.249	.	318;423;353;430	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	430;318;353;353	ENSP00000441242:A318V;ENSP00000343901:A353V;ENSP00000443099:A353V	.	A	+	2	0	0	TOM1L1	50382405	50382405	0.002000	0.14202	0.032000	0.17829	0.791000	0.44710	-0.173000	0.09854	0.121000	0.18284	-0.311000	0.09066	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.326702	1	0.170000	NM_005486	Missense_Mutation		54	53		294	292	1		1	1		0	0	61	0		1	1	0	50	0	107	0	54	294
VPS53	55275	broad.mit.edu	37	17	531366	531366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000571805.1	-	9	929	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.L265M|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	265					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358																																						ENST00000571805.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(793-795)Ctg>Atg		vacuolar protein sorting 53 homolog (S. cerevisiae)							153.0	143.0	147.0					17																	531366		2203	4300	6503	SO:0001583	missense	55275	0	0					g.chr17:531366G>T		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.793C>A	chr17.hg19:g.531366G>T	ENSP00000459312:p.Leu265Met	0					VPS53_ENST00000437048.2_Missense_Mutation_p.L265M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M	p.L265M			1	2	3	2.017774	Q5VIR6	VPS53_HUMAN		9	929	-			A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	1	1	hg19	c.793C>A		1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190685	0.78789	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.59906	0.23;0.23;0.23	6.04	5.08	0.68730	6.04	5.08	0.68730	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.996	T	0.80016	-0.1559	10	0.87932	D	0	-14.7172	14.7343	0.69404	0.0688:0.0:0.9312:0.0	.	265;67;265;236	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	M	265;67;236	ENSP00000401435:L265M;ENSP00000394386:L67M;ENSP00000291074:L236M	ENSP00000291074:L236M	L	-	1	2	2	VPS53	478116	478116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.478000	0.66806	1.584000	0.49913	-0.217000	0.12591	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_018289			39	38		130	129	1		1	1		0	0	40	0		1	9.873467e-01	0	4	0	22	0	39	130
NUP88	4927	broad.mit.edu	37	17	5323023	5323023	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5323023G>T	ENST00000573584.1	-	0	457				RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000405578.4_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						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)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGAGCACAGCCAATCCGCG	0.701																																						ENST00000573584.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15								nucleoporin 88kDa																																						4927	0	0					g.chr17:5323023G>T	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.-53C>A	chr17.hg19:g.5323023G>T		0					RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000536255.2_5'UTR		NM_002532.4	NP_002523.2	1	2	3	2.017774	Q99567	NUP88_HUMAN		0	457	-			D3DTM2|Q9BWE5	Translation_Start_Site	SNP	ENST00000573584.1	0	1	hg19		CCDS11070.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	0	0	1		2	2	2	0		0	0	33		33	18	1	2.060000	-20.000000	1	0.170000	NM_002532			41	35		134	104	0		1	1		0	0	33	0		1	4.344065e-01	0	2	0	4	0	41	134
C1QBP	708	broad.mit.edu	37	17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000225698.4	-	5	745	c.664A>G	c.(664-666)Act>Gct	p.T222A	C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	222					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	GTATAATTAGTATCCTTCCAT	0.478																																						ENST00000225698.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(664-666)Act>Gct		complement component 1, q subcomponent binding protein	Hyaluronan(DB08818)						104.0	101.0	102.0					17																	5336648		2203	4300	6503	SO:0001583	missense	708	0	0					g.chr17:5336648T>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.664A>G	chr17.hg19:g.5336648T>C	ENSP00000225698:p.Thr222Ala	0					CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	p.T222A	NM_001212.3	NP_001203.1	1	2	3	2.017774	Q07021	C1QBP_HUMAN		5	745	-			Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	1	1	hg19	c.664A>G	CCDS11071.1	1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.047581	0.85682	D	0.000000	T	0.60483	0.2272	L	0.59436	1.845	0.53688	D	0.999971	B	0.29232	0.238	B	0.31245	0.126	T	0.62732	-0.6792	9	0.54805	T	0.06	-8.1776	14.2178	0.65805	0.0:0.0:0.0:1.0	.	222	Q07021	C1QBP_HUMAN	A	222	.	ENSP00000225698:T222A	T	-	1	0	0	C1QBP	5277372	5277372	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.741000	0.84997	2.144000	0.66660	0.533000	0.62120	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_001212			104	103		429	424	1		1	1		0	0	90	0		1	1	0	216	0	413	0	104	429
TOM1L1	10040	broad.mit.edu	37	17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000575882.1	+	15	1747	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	465					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAAATTGATGCTCACCAGCAC	0.343																																						ENST00000575882.1	1.000000	0.270000	7.200000e-01	3.800000e-01	0.510000	0.555314	0.510000	0.480000																										0				15						c.(1393-1395)gCt>gTt		target of myb1 (chicken)-like 1							110.0	110.0	110.0					17																	53037950		2203	4300	6503	SO:0001583	missense	10040	0	0					g.chr17:53037950C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1394C>T	chr17.hg19:g.53037950C>T	ENSP00000460823:p.Ala465Val	0					TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V	p.A465V	NM_005486.2	NP_005477.2	1	2	3	2.007770	O75674	TM1L1_HUMAN		15	1747	+			Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	1	1	hg19	c.1394C>T	CCDS11582.1	0	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613557	0.46631	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.26957	1.7;1.8;1.8	6.17	-7.98	0.01135	6.17	-7.98	0.01135	.	1.077410	0.07116	N	0.843044	T	0.09158	0.0226	N	0.05383	-0.06	0.40731	D	0.982742	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.19451	-1.0305	10	0.17832	T	0.49	0.0588	6.1911	0.20524	0.0929:0.5024:0.1878:0.2169	.	353;458;388;465	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	465;353;388;388	ENSP00000441242:A353V;ENSP00000343901:A388V;ENSP00000443099:A388V	ENSP00000343901:A388V	A	+	2	0	0	TOM1L1	50392949	50392949	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-3.555000	0.00432	-1.488000	0.01847	-0.345000	0.07892	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.815657	1	0.170000	NM_005486			12	12		280	274	1		1	1		0	0	84	0		9.990557e-01	9.810077e-01	0	18	0	140	0	12	280
PCTP	58488	broad.mit.edu	37	17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000268896.5	+	3	453	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000576183.1_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	110	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458																																						ENST00000268896.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(328-330)Tcc>Ccc		phosphatidylcholine transfer protein							176.0	153.0	161.0					17																	53848535		2203	4300	6503	SO:0001583	missense	58488	0	0					g.chr17:53848535T>C	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.328T>C	chr17.hg19:g.53848535T>C	ENSP00000268896:p.Ser110Pro	0					PCTP_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000576183.1_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P	p.S110P	NM_021213.3	NP_067036.2	1	2	3	2.007770	Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)	3	453	+			Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	1	1	hg19	c.328T>C	CCDS11588.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191660	0.58017	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.49720	0.77;0.77	5.19	4.12	0.48240	5.19	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.115303	0.64402	D	0.000010	T	0.48447	0.1500	M	0.86805	2.84	0.53688	D	0.99997	P	0.38280	0.625	B	0.33454	0.164	T	0.52109	-0.8619	10	0.52906	T	0.07	.	7.986	0.30212	0.0:0.0935:0.0:0.9065	.	110	Q9UKL6	PPCT_HUMAN	P	110;38;89	ENSP00000268896:S110P;ENSP00000415185:S38P	ENSP00000268896:S110P	S	+	1	0	0	PCTP	51203534	51203534	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.156000	0.50708	0.924000	0.37069	0.379000	0.24179	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_021213			64	63		359	352	1		1	1		0	0	86	0		1	9.999950e-01	0	24	0	77	0	64	359
ANKFN1	162282	broad.mit.edu	37	17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	rs145617071	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000318698.2	+	9	1117	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.T361M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	361	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.T361M(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19329	0.0		0.001	False		,,,				2504	0.0					ENST00000318698.2	1.000000	0.420000	9.300000e-01	5.400000e-01	0.700000	0.721869	0.700000	1.000000																										1	Substitution - Missense(1)	p.T361M(1)	endometrium(1)	53						c.(1081-1083)aCg>aTg		ankyrin-repeat and fibronectin type III domain containing 1		C	MET/THR	0,4406		0,0,2203	122.0	110.0	114.0		1082	5.7	1.0	17	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKFN1	NM_153228.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	361/764	54520268	1,13005	2203	4300	6503	SO:0001583	missense	162282	22	121400	42				g.chr17:54520268C>T	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.1082C>T	chr17.hg19:g.54520268C>T	ENSP00000321627:p.Thr361Met	0					ANKFN1_ENST00000566473.2_Missense_Mutation_p.T361M	p.T361M	NM_153228.2	NP_694960.2	1	2	3	2.007770	Q8N957	ANKF1_HUMAN		9	1117	+				Missense_Mutation	SNP	ENST00000318698.2	1	1	hg19	c.1082C>T	CCDS32686.1	0	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	22.2	4.262435	0.80358	0.0	1.16E-4	ENSG00000153930	ENST00000318698	T	0.33865	1.39	5.72	5.72	0.89469	5.72	5.72	0.89469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.200345	0.53938	D	0.000052	T	0.36853	0.0982	L	0.43923	1.385	0.47094	D	0.999319	D	0.58268	0.982	B	0.42062	0.374	T	0.27773	-1.0064	10	0.66056	D	0.02	-10.2902	19.8804	0.96895	0.0:1.0:0.0:0.0	.	361	Q8N957	ANKF1_HUMAN	M	361	ENSP00000321627:T361M	ENSP00000321627:T361M	T	+	2	0	0	ANKFN1	51875267	51875267	0.993000	0.37304	0.966000	0.40874	0.964000	0.63967	6.516000	0.73755	2.684000	0.91462	0.563000	0.77884	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-5.569723	1	0.170000	NM_153228			17	17		281	274	0		1	0		0	0	49	0		9.999608e-01	3.762293e-03	0	1	0	1	0	17	281
NLRP1	22861	broad.mit.edu	37	17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000572272.1	-	5	2395	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	799					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542																																						ENST00000572272.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				65						c.(2395-2397)aTt>aGt		NLR family, pyrin domain containing 1							85.0	77.0	79.0					17																	5456838		2203	4300	6503	SO:0001583	missense	22861	0	0					g.chr17:5456838A>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2396T>G	chr17.hg19:g.5456838A>C	ENSP00000460475:p.Ile799Ser	0					NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S	p.I799S			1	2	3	2.017774	Q9C000	NALP1_HUMAN		5	2395	-		Colorectal(1115;3.48e-05)	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	1	1	hg19	c.2396T>G	CCDS42246.1	1	.	.	.	.	.	.	.	.	.	.	A	6.944	0.543931	0.13312	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	-0.917	0.10485	4.48	-0.917	0.10485	.	2.379340	0.02045	N	0.049571	T	0.40473	0.1118	L	0.52573	1.65	0.09310	N	0.999994	P;P;P;B;B;B	0.46457	0.58;0.878;0.878;0.044;0.059;0.073	B;B;B;B;B;B	0.44108	0.373;0.441;0.441;0.029;0.03;0.046	T	0.21895	-1.0232	10	0.22109	T	0.4	.	0.8203	0.01110	0.3889:0.1741:0.1:0.3371	.	65;799;799;799;799;799	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	S	799;799;799;799;799;65	ENSP00000442029:I799S;ENSP00000262467:I799S;ENSP00000269280:I799S;ENSP00000346390:I799S;ENSP00000324366:I799S	ENSP00000262467:I799S	I	-	2	0	0	NLRP1	5397562	5397562	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	0.215000	0.17562	0.008000	0.14787	0.533000	0.62120	ATT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_033004			44	44		234	227	0		1	1		0	0	41	0		1	8.638641e-01	0	5	0	16	0	44	234
ANKFN1	162282	broad.mit.edu	37	17	54554920	54554920	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000318698.2	+	15	1889	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000566473.2_Silent_p.L618L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368																																						ENST00000318698.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1852-1854)ctC>ctA		ankyrin-repeat and fibronectin type III domain containing 1							124.0	120.0	122.0					17																	54554920		2203	4300	6503	SO:0001819	synonymous_variant	162282	0	0					g.chr17:54554920C>A	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.1854C>A	chr17.hg19:g.54554920C>A		0					ANKFN1_ENST00000566473.2_Silent_p.L618L	p.L618L	NM_153228.2	NP_694960.2	1	2	3	2.007770	Q8N957	ANKF1_HUMAN		15	1889	+				Silent	SNP	ENST00000318698.2	1	1	hg19	c.1854C>A	CCDS32686.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.806340	1	0.170000	NM_153228			113	111		424	420	1		1	0		0	0	114	0		1	1.992451e-01	0	0	0	4	0	113	424
C17orf67	339210	broad.mit.edu	37	17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000575658.1	-	7	1456	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	C17orf67_ENST00000397861.2_Missense_Mutation_p.A60T|C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	84						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGCTCCAGGGCGAGCAGGTGG	0.552																																						ENST00000575658.1	1.000000	0.330000	9.300000e-01	4.700000e-01	0.650000	0.679435	0.650000	1.000000																										0				7						c.(250-252)Gcc>Acc		chromosome 17 open reading frame 67							84.0	91.0	89.0					17																	54872520		2099	4233	6332	SO:0001583	missense	339210	7	121044	37				g.chr17:54872520C>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.250G>A	chr17.hg19:g.54872520C>T	ENSP00000461483:p.Ala84Thr	0					C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000397861.2_Missense_Mutation_p.A60T	p.A84T	NM_001085430.2	NP_001078899.2	1	2	3	2.007770	Q0P5P2	CQ067_HUMAN		7	1456	-	Breast(9;2.49e-06)			Missense_Mutation	SNP	ENST00000575658.1	1	1	hg19	c.250G>A		0	.	.	.	.	.	.	.	.	.	.	C	3.782	-0.045429	0.07452	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	0.192	0.15134	4.53	0.192	0.15134	.	1.869520	0.04652	U	0.407337	T	0.25344	0.0616	N	0.14661	0.345	0.23132	N	0.998242	B	0.17465	0.022	B	0.08055	0.003	T	0.17806	-1.0357	9	0.16896	T	0.51	-3.7325	8.1756	0.31281	0.0:0.4148:0.3711:0.2141	.	84	Q0P5P2	CQ067_HUMAN	T	84	.	ENSP00000380959:A84T	A	-	1	0	0	C17orf67	52227519	52227519	0.001000	0.12720	0.927000	0.36925	0.158000	0.22134	0.418000	0.21230	-0.098000	0.12285	-1.008000	0.02478	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-12.896090	1	0.170000	NM_001085430			10	10		182	181	0		1	0		0	0	42	0		9.970359e-01	4.379281e-02	0	0	0	6	0	10	182
C17orf67	339210	broad.mit.edu	37	17	54893177	54893177	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000575658.1	-	5	1273	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame|C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	23						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507																																						ENST00000575658.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(67-69)Ggc>Tgc		chromosome 17 open reading frame 67							87.0	92.0	91.0					17																	54893177		2130	4243	6373	SO:0001583	missense	339210	0	0					g.chr17:54893177C>A	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.67G>T	chr17.hg19:g.54893177C>A	ENSP00000461483:p.Gly23Cys	0					C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame	p.G23C	NM_001085430.2	NP_001078899.2	1	2	3	2.007770	Q0P5P2	CQ067_HUMAN		5	1273	-	Breast(9;2.49e-06)			Missense_Mutation	SNP	ENST00000575658.1	1	0	hg19	c.67G>T		1	.	.	.	.	.	.	.	.	.	.	C	6.632	0.485154	0.12641	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	3.37	2.39	0.29439	3.37	2.39	0.29439	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.20563	N	0.999885	D	0.58268	0.982	P	0.50490	0.642	T	0.05435	-1.0885	8	0.37606	T	0.19	-3.932	5.3929	0.16253	0.0:0.7225:0.0:0.2775	.	23	Q0P5P2	CQ067_HUMAN	C	23	.	ENSP00000380959:G23C	G	-	1	0	0	C17orf67	52248176	52248176	0.038000	0.19896	0.670000	0.29842	0.427000	0.31564	0.004000	0.13106	0.751000	0.32900	-0.271000	0.10264	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_001085430			41	41		164	161	1		1	0		0	0	34	0		1	1.081749e-01	0	0	0	3	0	41	164
DGKE	8526	broad.mit.edu	37	17	54925319	54925319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	261	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383																																						ENST00000284061.3	1.000000	0.430000	8.500000e-01	5.400000e-01	0.660000	0.693188	0.660000	0.650000																										0				25						c.(781-783)Cta>Tta		diacylglycerol kinase, epsilon 64kDa							102.0	103.0	103.0					17																	54925319		2203	4300	6503	SO:0001819	synonymous_variant	8526	0	0					g.chr17:54925319C>T	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.781C>T	chr17.hg19:g.54925319C>T		0						p.L261L	NM_003647.2	NP_003638.1	1	2	3	2.007770	P52429	DGKE_HUMAN		5	961	+	Breast(9;3.59e-07)		Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	1	1	hg19	c.781C>T	CCDS11590.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.879263	1	0.170000	NM_003647			25	24		431	422	0		1	1		0	0	74	0		9.999998e-01	3.145995e-01	0	3	0	17	0	25	431
DGKE	8526	broad.mit.edu	37	17	54939214	54939214	+	Silent	SNP	C	C	T	rs202084326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	449					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)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17460	0.0		0.001	False		,,,				2504	0.0					ENST00000284061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1345-1347)atC>atT		diacylglycerol kinase, epsilon 64kDa							170.0	171.0	171.0					17																	54939214		2203	4300	6503	SO:0001819	synonymous_variant	8526	2	121412	30				g.chr17:54939214C>T	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.1347C>T	chr17.hg19:g.54939214C>T		0						p.I449I	NM_003647.2	NP_003638.1	1	2	3	2.007770	P52429	DGKE_HUMAN		10	1527	+	Breast(9;3.59e-07)		Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	1	1	hg19	c.1347C>T	CCDS11590.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_003647			172	167		710	690	1		1	1		0	0	119	0		1	8.198013e-01	0	4	0	11	0	172	710
MSI2	124540	broad.mit.edu	37	17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000322684.3_Missense_Mutation_p.S70G|MSI2_ENST00000416426.2_Missense_Mutation_p.S52G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	74	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)			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)		AGACCCAGCAAGTGTAGATAA	0.458			T	HOXA9	CML																																	ENST00000284073.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q23.2	17q23.2	124540	T	musashi homolog 2 (Drosophila)				L	L	HOXA9		CML		0				7						c.(220-222)Agt>Ggt		musashi RNA-binding protein 2							180.0	165.0	170.0					17																	55335665		2203	4300	6503	SO:0001583	missense	124540	0	0					g.chr17:55335665A>G	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.220A>G	chr17.hg19:g.55335665A>G	ENSP00000284073:p.Ser74Gly	0					MSI2_ENST00000416426.2_Missense_Mutation_p.S52G|MSI2_ENST00000322684.3_Missense_Mutation_p.S70G	p.S74G	NM_138962.2	NP_620412.1	1	2	3	2.007770	Q96DH6	MSI2H_HUMAN		4	429	+	Breast(9;1.78e-08)		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	1	1	hg19	c.220A>G	CCDS11596.1	1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331261	0.41297	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85773	-2.03;-2.03;-2.03	4.78	4.78	0.61160	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.90287	0.6962	M	0.67569	2.06	0.80722	D	1	D;B;B	0.53885	0.963;0.001;0.001	D;B;B	0.69824	0.966;0.002;0.009	D	0.89023	0.3436	10	0.32370	T	0.25	.	13.4938	0.61411	1.0:0.0:0.0:0.0	.	52;70;74	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	G	52;74;70	ENSP00000414671:S52G;ENSP00000284073:S74G;ENSP00000313616:S70G	ENSP00000284073:S74G	S	+	1	0	0	MSI2	52690664	52690664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.839000	0.75364	1.780000	0.52325	0.523000	0.50628	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1	1	0	1		2	2	2	0		0	0	150		150	145	1	2.060000	-20.000000	1	0.170000				122	119		585	574	1		1	1		0	0	150	0		1	1	0	69	0	91	0	122	585
MSI2	124540	broad.mit.edu	37	17	55752391	55752391	+	Silent	SNP	C	C	T	rs141534185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55752391C>T	ENST00000284073.2	+	12	1058	c.849C>T	c.(847-849)gcC>gcT	p.A283A	MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	283						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			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)		GACCTGTCGCCGATCTCTACG	0.682			T	HOXA9	CML								C|||	1	0.000199681	0.0	0.0	5008	,	,		15376	0.0		0.001	False		,,,				2504	0.0					ENST00000284073.2	1.000000	0.110000	2.800000e-01	1.500000e-01	0.200000	0.268981	0.200000	0.190000				Dom	yes			Dom	yes		17	17q23.2	17q23.2	124540	T	musashi homolog 2 (Drosophila)				L	L	HOXA9		CML		0				7						c.(847-849)gcC>gcT		musashi RNA-binding protein 2		C		0,4406		0,0,2203	48.0	58.0	55.0		849	2.0	1.0	17	dbSNP_134	55	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MSI2	NM_138962.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		283/329	55752391	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	124540	1	121396	42				g.chr17:55752391C>T	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.849C>T	chr17.hg19:g.55752391C>T		0					MSI2_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Silent_p.A222A	p.A283A	NM_138962.2	NP_620412.1	1	2	3	2.007770	Q96DH6	MSI2H_HUMAN		12	1058	+	Breast(9;1.78e-08)		Q7Z6M7|Q8N9T4	Silent	SNP	ENST00000284073.2	0	1	hg19	c.849C>T	CCDS11596.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-2.643703	1	0.170000				15	16		906	889	0		1	1		0	0	98	0		9.998508e-01	4.498778e-01	0	4	0	85	0	15	906
MRPS23	51649	broad.mit.edu	37	17	55917297	55917297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23						translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTCCGTGTTGCTTAAAAGACC	0.403																																						ENST00000313608.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.e5-1		mitochondrial ribosomal protein S23							105.0	90.0	95.0					17																	55917297		2203	4300	6503	SO:0001630	splice_region_variant	51649	0	0					g.chr17:55917297C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.421-1G>T	chr17.hg19:g.55917297C>A		0							NM_016070.3	NP_057154.2	1	2	3	2.007770	Q9Y3D9	RT23_HUMAN		5	466	-	Breast(9;8.75e-08)		B2R6V3|Q96Q24|Q9BWH8|Q9P053	Splice_Site	SNP	ENST00000313608.8	1	1	hg19		CCDS11598.1	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528459	0.44969	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MRPS23	53272296	53272296	0.930000	0.31532	0.453000	0.27007	0.010000	0.07245	0.503000	0.22610	2.781000	0.95711	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_016070	Intron		56	56		286	284	1		1	1		0	0	57	0		1	1.309360e-01	0	2	0	2	0	56	286
VEZF1	7716	broad.mit.edu	37	17	56058141	56058141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56058141T>C	ENST00000581208.1	-	4	839	c.799A>G	c.(799-801)Act>Gct	p.T267A	VEZF1_ENST00000584396.1_Missense_Mutation_p.T258A	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	267					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AAGGCAGCAGTGCACGTCTGC	0.448																																						ENST00000581208.1	1.000000	0.130000	5.400000e-01	2.200000e-01	0.340000	0.401938	0.340000	0.300000																										0				10						c.(799-801)Act>Gct		vascular endothelial zinc finger 1							87.0	71.0	76.0					17																	56058141		2203	4300	6503	SO:0001583	missense	7716	0	0					g.chr17:56058141T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.799A>G	chr17.hg19:g.56058141T>C	ENSP00000462337:p.Thr267Ala	0					VEZF1_ENST00000584396.1_Missense_Mutation_p.T258A	p.T267A	NM_007146.2	NP_009077.2	1	2	3	2.007770	Q14119	VEZF1_HUMAN		4	839	-				Missense_Mutation	SNP	ENST00000581208.1	0	1	hg19	c.799A>G	CCDS32687.1	0	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525295	0.44969	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.043175	0.85682	D	0.000000	T	0.52125	0.1715	L	0.28274	0.84	0.80722	D	1	B	0.25609	0.13	B	0.24541	0.054	T	0.51220	-0.8733	9	0.56958	D	0.05	-2.6976	16.2214	0.82262	0.0:0.0:0.0:1.0	.	267	Q14119	VEZF1_HUMAN	A	267	.	ENSP00000258963:T267A	T	-	1	0	0	VEZF1	53413140	53413140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.232000	0.73038	0.523000	0.50628	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1	0	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-7.976138	1	0.170000				6	6		225	219	0		1	1		0	0	42	0		9.626248e-01	8.444283e-01	0	5	0	124	0	6	225
OR4D2	124538	broad.mit.edu	37	17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592																																						ENST00000545221.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(421-423)tgG>tgT		olfactory receptor, family 4, subfamily D, member 2							91.0	91.0	91.0					17																	56247439		2203	4300	6503	SO:0001583	missense	124538	0	0					g.chr17:56247439G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.423G>T	chr17.hg19:g.56247439G>T	ENSP00000441354:p.Trp141Cys	0						p.W141C	NM_001004707.3	NP_001004707.1	1	2	3	2.007770	P58180	OR4D2_HUMAN		1	423	+			Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	1	1	hg19	c.423G>T	CCDS32688.1	1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194430	0.00299	.	.	ENSG00000255713	ENST00000545221	T	0.00021	9.03	5.71	3.49	0.39957	5.71	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00000	-4.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.54649	-0.8262	10	0.02654	T	1	-6.0013	4.3334	0.11075	0.0:0.1575:0.1815:0.661	.	141	P58180	OR4D2_HUMAN	C	141	ENSP00000441354:W141C	ENSP00000441354:W141C	W	+	3	0	0	OR4D2	53602438	53602438	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.822000	0.04448	1.102000	0.41551	-0.311000	0.09066	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1	1	0	1		2	2	2	0		0	0	123		123	120	1	2.060000	-3.412733	1	0.170000				112	112		492	477	1		1			0	0	123	0		1	0	0	0	0	0	0	112	492
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512																																						ENST00000545221.1	1.000000	0.420000	7.600000e-01	5.100000e-01	0.610000	0.646079	0.610000	0.600000																										1	Substitution - Missense(1)	p.A296T(1)	lung(1)	26						c.(886-888)Gca>Tca		olfactory receptor, family 4, subfamily D, member 2							101.0	101.0	101.0					17																	56247902		2203	4300	6503	SO:0001583	missense	124538	0	0					g.chr17:56247902G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.886G>T	chr17.hg19:g.56247902G>T	ENSP00000441354:p.Ala296Ser	0						p.A296S	NM_001004707.3	NP_001004707.1	1	2	3	2.007770	P58180	OR4D2_HUMAN		1	886	+			Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	1	1	hg19	c.886G>T	CCDS32688.1	0	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441560	0.04604	.	.	ENSG00000255713	ENST00000545221	T	0.36520	1.25	5.65	4.58	0.56647	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.14184	0.0343	N	0.05259	-0.085	0.26979	N	0.965404	B	0.14012	0.009	B	0.15870	0.014	T	0.27331	-1.0077	10	0.09338	T	0.73	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	S	296	ENSP00000441354:A296S	ENSP00000441354:A296S	A	+	1	0	0	OR4D2	53602901	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1	1	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-5.464161	1	0.170000				32	31		598	594	0		1			0	0	165	0		1	0	0	0	0	0	0	32	598
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGCGGCTTCGCAGCGGTTCA	0.612																																						ENST00000225371.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R63H(1)	large_intestine(1)	48						c.(187-189)cGc>cAc		eosinophil peroxidase	Melatonin(DB01065)						95.0	95.0	95.0					17																	56270749		2203	4300	6503	SO:0001583	missense	8288	0	0					g.chr17:56270749G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.188G>A	chr17.hg19:g.56270749G>A	ENSP00000225371:p.Arg63His	0						p.R63H	NM_000502.4	NP_000493.1	1	2	3	2.007770	P11678	PERE_HUMAN		3	298	+			Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	1	1	hg19	c.188G>A	CCDS11602.1	1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	0	EPX	53625748	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_000502			113	110		740	722	1		1			0	0	164	0		1	0	0	0	0	0	0	113	740
EPX	8288	broad.mit.edu	37	17	56271324	56271324	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	155					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATGGCTGCAGGAGGAGACCCT	0.672																																						ENST00000225371.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(463-465)aaG>aaA		eosinophil peroxidase	Melatonin(DB01065)						32.0	34.0	33.0					17																	56271324		2203	4300	6503	SO:0001630	splice_region_variant	8288	0	0					g.chr17:56271324G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.465-1G>A	chr17.hg19:g.56271324G>A		0						p.K155K	NM_000502.4	NP_000493.1	1	2	3	2.007770	P11678	PERE_HUMAN		5	575	+			Q4TVP3	Splice_Site	SNP	ENST00000225371.5	1	0	hg19	c.465G>A	CCDS11602.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.411879	1	0.170000	NM_000502	Silent		51	50		235	230	1		1			0	0	46	0		1	0	0	0	0	0	0	51	235
EPX	8288	broad.mit.edu	37	17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	372					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCCCTGCTTCCTGGCAGGTCA	0.622																																						ENST00000225371.5	1.000000	0.970000	1	9.900000e-01	0.990000	0.997859	0.990000	1.000000																										0				48						c.(1114-1116)Ctg>Atg		eosinophil peroxidase	Melatonin(DB01065)						44.0	46.0	45.0					17																	56274612		2203	4300	6503	SO:0001583	missense	8288	0	0					g.chr17:56274612C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1114C>A	chr17.hg19:g.56274612C>A	ENSP00000225371:p.Leu372Met	0						p.L372M	NM_000502.4	NP_000493.1	1	2	3	2.007770	P11678	PERE_HUMAN		7	1224	+			Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	1	1	hg19	c.1114C>A	CCDS11602.1	1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961240	0.53400	.	.	ENSG00000121053	ENST00000225371	T	0.75154	-0.91	4.86	3.9	0.45041	4.86	3.9	0.45041	.	0.304053	0.31438	N	0.007660	D	0.83695	0.5310	M	0.80183	2.485	0.43149	D	0.994916	D	0.76494	0.999	D	0.72982	0.979	D	0.83894	0.0286	10	0.59425	D	0.04	-8.0465	7.8255	0.29313	0.0:0.8096:0.0:0.1904	.	372	P11678	PERE_HUMAN	M	372	ENSP00000225371:L372M	ENSP00000225371:L372M	L	+	1	2	2	EPX	53629611	53629611	0.405000	0.25336	1.000000	0.80357	0.974000	0.67602	0.042000	0.13949	1.185000	0.42971	0.462000	0.41574	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1		2	2	2	0		0	0	60		60	56	1	2.060000	-3.017768	1	0.170000	NM_000502			38	37		300	295	1		1			0	0	60	0		1	0	0	0	0	0	0	38	300
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCCGATCAACGGAAACCCCCA	0.567																																						ENST00000225371.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1135-1137)acG>acA		eosinophil peroxidase	Melatonin(DB01065)						75.0	66.0	69.0					17																	56276417		2203	4300	6503	SO:0001819	synonymous_variant	8288	7	121412	38				g.chr17:56276417G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1137G>A	chr17.hg19:g.56276417G>A		0						p.T379T	NM_000502.4	NP_000493.1	1	2	3	2.007770	P11678	PERE_HUMAN		8	1247	+			Q4TVP3	Silent	SNP	ENST00000225371.5	1	1	hg19	c.1137G>A	CCDS11602.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.727195	1	0.170000	NM_000502			42	40		162	158	1		1			0	0	46	0		1	0	0	0	0	0	0	42	162
EPX	8288	broad.mit.edu	37	17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A	rs376090047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	673					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R673Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCCTTGTCTCGAATTATATGT	0.512																																						ENST00000225371.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R673Q(1)	endometrium(1)	48						c.(2017-2019)cGa>cAa		eosinophil peroxidase	Melatonin(DB01065)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	100.0	105.0		2018	5.7	1.0	17		105	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	673/716	56281654	1,13005	2203	4300	6503	SO:0001583	missense	8288	1	121412	37				g.chr17:56281654G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2018G>A	chr17.hg19:g.56281654G>A	ENSP00000225371:p.Arg673Gln	0						p.R673Q	NM_000502.4	NP_000493.1	1	2	3	2.007770	P11678	PERE_HUMAN		12	2128	+			Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	1	1	hg19	c.2018G>A	CCDS11602.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.155851	0.94686	2.27E-4	0.0	ENSG00000121053	ENST00000225371	T	0.74737	-0.87	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85945	2.785	0.58432	D	0.999998	D	0.76494	0.999	P	0.56563	0.801	D	0.87659	0.2533	10	0.87932	D	0	-2.5207	17.2336	0.86991	0.0:0.0:1.0:0.0	.	673	P11678	PERE_HUMAN	Q	673	ENSP00000225371:R673Q	ENSP00000225371:R673Q	R	+	2	0	0	EPX	53636653	53636653	0.988000	0.35896	0.996000	0.52242	0.597000	0.36814	4.535000	0.60629	2.660000	0.90430	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.055025	1	0.170000	NM_000502			75	75		359	351	1		1	0		0	0	79	0		1	0	0	0	0	1	0	75	359
MKS1	54903	broad.mit.edu	37	17	56292170	56292170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000393119.2	-	5	521	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000546108.1_Intron|MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000313863.6_Silent_p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	149					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)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCACCTCGCTGGCTGCAG	0.592																																						ENST00000393119.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.989409	0.990000	1.000000																										0				26						c.(445-447)agC>agT		Meckel syndrome, type 1							44.0	46.0	46.0					17																	56292170		2109	4229	6338	SO:0001819	synonymous_variant	54903	2	121080	32				g.chr17:56292170G>A	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.447C>T	chr17.hg19:g.56292170G>A		0					MKS1_ENST00000313863.6_Silent_p.S149S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000537529.2_Silent_p.S139S	p.S149S	NM_017777.3	NP_060247.2	1	2	3	2.007770	Q9NXB0	MKS1_HUMAN		5	521	-			B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	1	1	hg19	c.447C>T	CCDS11603.2	1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431037	0.43122	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	-11.5	0.00074	5.74	-11.5	0.00074	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.28699	N	0.90415	.	.	.	.	.	.	T	0.11372	-1.0590	4	.	.	.	-9.958	8.0798	0.30737	0.6261:0.2194:0.0836:0.0709	.	.	.	.	V	150	.	.	A	-	2	0	0	MKS1	53647169	53647169	0.000000	0.05858	0.032000	0.17829	0.813000	0.45954	-3.171000	0.00573	-2.873000	0.00322	-0.366000	0.07423	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-19.999220	1	0.170000	NM_017777			15	14		113	108	1		1	1		0	0	30	0		9.998638e-01	8.492852e-01	0	2	0	26	0	15	113
LPO	4025	broad.mit.edu	37	17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000421678.2_Missense_Mutation_p.A78V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000543544.1_Missense_Mutation_p.A102V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	161					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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716																																						ENST00000262290.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				30						c.(481-483)gCg>gTg		lactoperoxidase							14.0	17.0	16.0					17																	56326965		2153	4215	6368	SO:0001583	missense	4025	0	0					g.chr17:56326965C>T	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.482C>T	chr17.hg19:g.56326965C>T	ENSP00000262290:p.Ala161Val	0					LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	p.A161V	NM_006151.2	NP_006142.1	1	2	3	2.007770	P22079	PERL_HUMAN		6	798	+			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	1	1	hg19	c.482C>T	CCDS32689.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.609118	0.96637	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.70045	-0.45;-0.45;-0.45	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.165981	0.53938	D	0.000050	T	0.74344	0.3704	L	0.48218	1.51	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;0.983;0.998;0.999	P;P;P;P	0.60173	0.735;0.468;0.806;0.87	T	0.70799	-0.4774	10	0.30078	T	0.28	.	18.2787	0.90092	0.0:1.0:0.0:0.0	.	78;78;102;161	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	V	161;78;102	ENSP00000262290:A161V;ENSP00000400245:A78V;ENSP00000445344:A102V	ENSP00000262290:A161V	A	+	2	0	0	LPO	53681964	53681964	0.934000	0.31675	1.000000	0.80357	0.977000	0.68977	0.792000	0.26929	2.543000	0.85770	0.655000	0.94253	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000				30	30		134	130	0		1			0	0	22	0		1	0	0	0	0	0	0	30	134
LPO	4025	broad.mit.edu	37	17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000421678.2_Missense_Mutation_p.E84D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	167					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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726																																						ENST00000262290.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999961	0.990000	1.000000																										0				30						c.(499-501)gaG>gaT		lactoperoxidase							14.0	16.0	15.0					17																	56326984		2154	4238	6392	SO:0001583	missense	4025	1	120378	24				g.chr17:56326984G>T	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.501G>T	chr17.hg19:g.56326984G>T	ENSP00000262290:p.Glu167Asp	0					LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	p.E167D	NM_006151.2	NP_006142.1	1	2	3	2.007770	P22079	PERL_HUMAN		6	817	+			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	1	1	hg19	c.501G>T	CCDS32689.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759121	0.69763	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.68765	-0.35;-0.35;-0.35	5.45	0.544	0.17185	5.45	0.544	0.17185	.	0.164449	0.52532	D	0.000062	T	0.48537	0.1505	L	0.39147	1.195	0.37990	D	0.93387	B;B;B;B	0.26363	0.046;0.021;0.147;0.147	B;B;B;B	0.33121	0.063;0.068;0.112;0.158	T	0.18335	-1.0340	10	0.15066	T	0.55	.	2.1383	0.03768	0.213:0.1522:0.4796:0.1552	.	84;84;108;167	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	D	167;84;108	ENSP00000262290:E167D;ENSP00000400245:E84D;ENSP00000445344:E108D	ENSP00000262290:E167D	E	+	3	2	2	LPO	53681983	53681983	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.577000	0.23758	0.621000	0.30232	0.655000	0.94253	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				25	24		123	118	0		1			0	0	23	0		9.999999e-01	0	0	0	0	0	0	25	123
LPO	4025	broad.mit.edu	37	17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T	rs552696726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000421678.2_Missense_Mutation_p.Q400H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	483					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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522																																						ENST00000262290.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1447-1449)caG>caT		lactoperoxidase							98.0	79.0	86.0					17																	56342265		2203	4300	6503	SO:0001583	missense	4025	0	0					g.chr17:56342265G>T	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.1449G>T	chr17.hg19:g.56342265G>T	ENSP00000262290:p.Gln483His	0					LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	p.Q483H	NM_006151.2	NP_006142.1	1	2	3	2.007770	P22079	PERL_HUMAN		10	1765	+			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	1	1	hg19	c.1449G>T	CCDS32689.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020350	0.54576	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	3.16	0.36331	6.17	3.16	0.36331	.	0.304519	0.34750	N	0.003712	T	0.76385	0.3980	M	0.72479	2.2	0.36809	D	0.885762	B;P	0.42735	0.452;0.788	B;P	0.46659	0.36;0.523	T	0.79848	-0.1630	10	0.72032	D	0.01	-13.7066	10.9003	0.47047	0.2004:0.0:0.7996:0.0	.	400;483	E7EMJ3;P22079	.;PERL_HUMAN	H	483;400;424;228	ENSP00000262290:Q483H;ENSP00000400245:Q400H;ENSP00000445344:Q424H	ENSP00000262290:Q483H	Q	+	3	2	2	LPO	53697264	53697264	0.467000	0.25831	0.997000	0.53966	0.980000	0.70556	0.126000	0.15769	0.500000	0.27991	0.655000	0.94253	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000				70	66		219	213	1		1	0		0	0	62	0		1	0	0	0	0	1	0	70	219
LPO	4025	broad.mit.edu	37	17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000421678.2_Missense_Mutation_p.R431W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000543544.1_Missense_Mutation_p.R455W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401). {ECO:0000269|Ref.3}.		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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532																																						ENST00000262290.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				30						c.(1540-1542)Cgg>Tgg		lactoperoxidase							54.0	47.0	50.0					17																	56343534		2203	4300	6503	SO:0001583	missense	4025	0	0					g.chr17:56343534C>T	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.1540C>T	chr17.hg19:g.56343534C>T	ENSP00000262290:p.Arg514Trp	0					LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	p.R514W	NM_006151.2	NP_006142.1	1	2	3	2.007770	P22079	PERL_HUMAN		11	1856	+			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	1	1	hg19	c.1540C>T	CCDS32689.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101119	0.76983	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70986	-0.53;-0.53;-0.53	6.06	3.95	0.45737	6.06	3.95	0.45737	.	0.049849	0.85682	D	0.000000	D	0.88142	0.6357	H	0.95712	3.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91681	0.5358	10	0.87932	D	0	-36.0285	14.2005	0.65699	0.2853:0.7147:0.0:0.0	.	431;514	E7EMJ3;P22079	.;PERL_HUMAN	W	514;431;455;259	ENSP00000262290:R514W;ENSP00000400245:R431W;ENSP00000445344:R455W	ENSP00000262290:R514W	R	+	1	2	2	LPO	53698533	53698533	0.039000	0.19947	0.954000	0.39281	0.996000	0.88848	0.408000	0.21065	1.522000	0.49001	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-3.151044	1	0.170000				32	31		157	150	1		1			0	0	42	0		1	0	0	0	0	0	0	32	157
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000225275.3	-	7	1117	c.941G>A	c.(940-942)cGc>cAc	p.R314H	MPO_ENST00000340482.3_Missense_Mutation_p.R346H|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					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)			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)	CGGGCAGGAGCGGAAGAACGG	0.622																																						ENST00000225275.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(940-942)cGc>cAc		myeloperoxidase	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)						96.0	88.0	91.0					17																	56355451		2203	4300	6503	SO:0001583	missense	4353	0	0					g.chr17:56355451C>T		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.941G>A	chr17.hg19:g.56355451C>T	ENSP00000225275:p.Arg314His	0					MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346H	p.R314H	NM_000250.1	NP_000241.1	1	2	3	2.007770	P05164	PERM_HUMAN		7	1117	-			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	1	1	hg19	c.941G>A	CCDS11604.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.382585	0.95967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.98559	4.265	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	D	0.95837	0.8863	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	H	346;314	ENSP00000344419:R346H;ENSP00000225275:R314H	ENSP00000225275:R314H	R	-	2	0	0	MPO	53710450	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-20.000000	1	0.170000				101	98		480	468	1		1			0	0	115	0		1	0	0	0	0	0	0	101	480
MPO	4353	broad.mit.edu	37	17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000225275.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000340482.3_Missense_Mutation_p.D171G|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	171					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)			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)	GCGGTATTTGTCCTGCTCCGG	0.652																																						ENST00000225275.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(511-513)gAc>gGc		myeloperoxidase	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)						35.0	33.0	34.0					17																	56356920		2203	4300	6503	SO:0001583	missense	4353	0	0					g.chr17:56356920T>C		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.512A>G	chr17.hg19:g.56356920T>C	ENSP00000225275:p.Asp171Gly	0					MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D171G	p.D171G	NM_000250.1	NP_000241.1	1	2	3	2.007770	P05164	PERM_HUMAN		4	688	-			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	1	1	hg19	c.512A>G	CCDS11604.1	1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450950	0.26074	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72505	-0.66;-0.66	5.04	3.95	0.45737	5.04	3.95	0.45737	.	0.304797	0.36101	N	0.002783	T	0.65565	0.2703	M	0.72118	2.19	0.22779	N	0.998745	B	0.31968	0.349	B	0.30316	0.114	T	0.61860	-0.6976	10	0.49607	T	0.09	-28.6647	8.6186	0.33847	0.0:0.0911:0.0:0.9089	.	171	P05164	PERM_HUMAN	G	171	ENSP00000344419:D171G;ENSP00000225275:D171G	ENSP00000225275:D171G	D	-	2	0	0	MPO	53711919	53711919	0.174000	0.23070	0.965000	0.40720	0.175000	0.22909	0.275000	0.18698	1.904000	0.55121	0.379000	0.24179	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000				37	37		161	158	1		1			0	0	31	0		1	0	0	0	0	0	0	37	161
BZRAP1	9256	broad.mit.edu	37	17	56386380	56386380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56386380C>T	ENST00000343736.4	-	22	4416	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1418H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1358H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1418						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					AGGCCGCCTGCGGCTTGGGGG	0.662																																						ENST00000343736.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(4252-4254)cGc>cAc		benzodiazepine receptor (peripheral) associated protein 1							51.0	61.0	58.0					17																	56386380		2061	4106	6167	SO:0001583	missense	9256	3	119702	40				g.chr17:56386380C>T	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.4253G>A	chr17.hg19:g.56386380C>T	ENSP00000345824:p.Arg1418His	0					BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1418H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1358H	p.R1418H			1	2	3	2.007770	O95153	RIMB1_HUMAN		22	4416	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	1	0	hg19	c.4253G>A	CCDS11605.1	1	.	.	.	.	.	.	.	.	.	.	c	11.12	1.545017	0.27652	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04809	3.55;3.55;3.56	5.31	3.32	0.38043	5.31	3.32	0.38043	.	0.745690	0.13368	N	0.393144	T	0.04998	0.0134	L	0.32530	0.975	0.25701	N	0.98559	B;B;B	0.21821	0.042;0.061;0.036	B;B;B	0.16722	0.011;0.016;0.007	T	0.33394	-0.9870	10	0.87932	D	0	.	9.0355	0.36284	0.0:0.775:0.1461:0.0789	.	1418;1358;1418	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	1418;1418;1358	ENSP00000347929:R1418H;ENSP00000345824:R1418H;ENSP00000268893:R1358H	ENSP00000268893:R1358H	R	-	2	0	0	BZRAP1	53741379	53741379	0.997000	0.39634	0.935000	0.37517	0.512000	0.34134	1.834000	0.39171	0.637000	0.30526	-0.215000	0.12644	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1		2	2	2	0		0	0	146		146	67	1	2.060000	-20.000000	1	0.170000	NM_004758			185	102		751	408	1		1	1		0	0	146	0		1	7.940481e-01	0	6	0	8	0	185	751
BZRAP1	9256	broad.mit.edu	37	17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000343736.4	-	20	3813	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1217						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					TTGGCACATCTCGGTATTTGG	0.647																																						ENST00000343736.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3649-3651)gAg>gGg		benzodiazepine receptor (peripheral) associated protein 1							42.0	48.0	46.0					17																	56387922		2202	4300	6502	SO:0001583	missense	9256	0	0					g.chr17:56387922T>C	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.3650A>G	chr17.hg19:g.56387922T>C	ENSP00000345824:p.Glu1217Gly	0					BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G	p.E1217G			1	2	3	2.007770	O95153	RIMB1_HUMAN		20	3813	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	1	1	hg19	c.3650A>G	CCDS11605.1	1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417196	0.62511	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88509	-2.39;-2.39;-2.39	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.390780	0.29515	N	0.011935	D	0.87826	0.6275	L	0.55481	1.735	0.09310	N	1	B;P;P	0.40066	0.155;0.592;0.701	B;B;B	0.42959	0.096;0.403;0.388	T	0.83166	-0.0096	10	0.56958	D	0.05	.	12.3744	0.55271	0.0:0.0:0.0:1.0	.	1217;1157;1217	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	1217;1217;1157	ENSP00000347929:E1217G;ENSP00000345824:E1217G;ENSP00000268893:E1157G	ENSP00000268893:E1157G	E	-	2	0	0	BZRAP1	53742921	53742921	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.988000	0.40697	2.180000	0.69256	0.379000	0.24179	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_004758			70	69		355	352	1		1	0		0	0	84	0		1	2.627505e-01	0	0	0	6	0	70	355
BZRAP1	9256	broad.mit.edu	37	17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000343736.4	-	17	3008	c.2845C>A	c.(2845-2847)Ctc>Atc	p.L949I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	949	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					TGGGGTGGGAGCTGAGCCTCC	0.657																																						ENST00000343736.4	1.000000	0.250000	6.600000e-01	3.400000e-01	0.470000	0.516086	0.470000	0.440000																										0				54						c.(2845-2847)Ctc>Atc		benzodiazepine receptor (peripheral) associated protein 1							37.0	39.0	38.0					17																	56389337		2203	4300	6503	SO:0001583	missense	9256	0	0					g.chr17:56389337G>T	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.2845C>A	chr17.hg19:g.56389337G>T	ENSP00000345824:p.Leu949Ile	0					BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I	p.L949I			1	2	3	2.007770	O95153	RIMB1_HUMAN		17	3008	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	1	1	hg19	c.2845C>A	CCDS11605.1	0	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165512	0.38217	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.6;3.6	4.95	3.95	0.45737	4.95	3.95	0.45737	Fibronectin, type III (2);	0.398397	0.21514	N	0.073340	T	0.04815	0.0130	L	0.33485	1.01	0.24983	N	0.991587	B;B;B	0.14805	0.001;0.011;0.003	B;B;B	0.17433	0.003;0.018;0.009	T	0.37337	-0.9710	10	0.16896	T	0.51	.	13.5894	0.61951	0.0:0.0:0.8384:0.1616	.	949;889;949	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	949;949;889	ENSP00000347929:L949I;ENSP00000345824:L949I;ENSP00000268893:L889I	ENSP00000268893:L889I	L	-	1	0	0	BZRAP1	53744336	53744336	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.478000	0.66806	1.167000	0.42706	0.455000	0.32223	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-12.879890	1	0.170000	NM_004758			12	12		307	304	0		1	0		0	0	49	0		9.991112e-01	0	0	1	0	0	0	12	307
BZRAP1	9256	broad.mit.edu	37	17	56389920	56389920	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000343736.4	-	17	2425	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_ENST00000355701.3_Silent_p.S754S|BZRAP1_ENST00000268893.6_Silent_p.S694S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	754						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					TTTGGCCCCCGCTACTGCTGC	0.642																																						ENST00000343736.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2260-2262)agC>agT		benzodiazepine receptor (peripheral) associated protein 1							69.0	58.0	62.0					17																	56389920		2203	4300	6503	SO:0001819	synonymous_variant	9256	15	121412	43				g.chr17:56389920G>A	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.2262C>T	chr17.hg19:g.56389920G>A		0					BZRAP1_ENST00000355701.3_Silent_p.S754S|BZRAP1_ENST00000268893.6_Silent_p.S694S	p.S754S			1	2	3	2.007770	O95153	RIMB1_HUMAN		17	2425	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	1	1	hg19	c.2262C>T	CCDS11605.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_004758			86	85		399	391	1		1	0		0	0	85	0		1	3.636579e-01	0	0	0	7	0	86	399
RNF43	54894	broad.mit.edu	37	17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	486	Ser-rich.				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)			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)					CCCCTGTAGGCTGATGTCCGT	0.587																																						ENST00000584437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1456-1458)aGc>aTc		ring finger protein 43							84.0	84.0	84.0					17																	56435680		2203	4300	6503	SO:0001583	missense	54894	0	0					g.chr17:56435680C>A		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.1457G>T	chr17.hg19:g.56435680C>A	ENSP00000463069:p.Ser486Ile	0					RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I	p.S486I			1	2	3	2.007770	Q68DV7	RNF43_HUMAN		8	3412	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	1	1	hg19	c.1457G>T	CCDS11607.1	1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354749	0.41700	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.41	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.283745	0.41396	D	0.000883	T	0.51227	0.1662	L	0.36672	1.1	0.36562	D	0.872467	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.62358	-0.6871	10	0.87932	D	0	-19.8757	16.5861	0.84727	0.0:1.0:0.0:0.0	.	445;486;486	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	486;445	ENSP00000385328:S486I;ENSP00000441969:S445I	ENSP00000385328:S486I	S	-	2	0	0	RNF43	53790679	53790679	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.849000	0.69465	2.160000	0.67779	0.174000	0.16983	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_017763			86	86		446	435	1		1	1	1	0	0	118	353		1	9.998501e-01	1	27	99	41	324	86	446
RNF43	54894	broad.mit.edu	37	17	56440681	56440681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_ENST00000581868.1_Silent_p.N52N|RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000577625.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	179					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)			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)					GGGCCTTTTGGTTCTTGTACA	0.567																																						ENST00000584437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(535-537)aaC>aaT		ring finger protein 43							130.0	128.0	128.0					17																	56440681		2203	4300	6503	SO:0001819	synonymous_variant	54894	0	0					g.chr17:56440681G>A		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.537C>T	chr17.hg19:g.56440681G>A		0					RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000581868.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N	p.N179N			1	2	3	2.007770	Q68DV7	RNF43_HUMAN		4	2492	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	1	1	hg19	c.537C>T	CCDS11607.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1		2	2	6	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_017763			94	94		405	397	1		1	1	1	0	1	77	1163		1	9.987393e-01	1	17	195	28	991	94	405
HSF5	124535	broad.mit.edu	37	17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGAAATGACCGGTGAAATTG	0.428																																						ENST00000323777.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(577-579)cGg>cAg		heat shock transcription factor family member 5							71.0	65.0	67.0					17																	56557601		2203	4300	6503	SO:0001583	missense	124535	1	121392	34				g.chr17:56557601C>T	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.578G>A	chr17.hg19:g.56557601C>T	ENSP00000313243:p.Arg193Gln	0						p.R193Q	NM_001080439.1	NP_001073908.1	1	2	3	2.007770	Q4G112	HSF5_HUMAN		2	687	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	1	1	hg19	c.578G>A	CCDS32690.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742215	0.89573	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.49139	0.79	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000053	T	0.54598	0.1868	N	0.24115	0.695	0.44492	D	0.997434	D	0.76494	0.999	D	0.72625	0.978	T	0.51196	-0.8736	10	0.33940	T	0.23	.	16.3777	0.83410	0.0:1.0:0.0:0.0	.	193	Q4G112	HSF5_HUMAN	Q	93;193	ENSP00000313243:R193Q	ENSP00000313243:R193Q	R	-	2	0	0	HSF5	53912600	53912600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	2.646000	0.89796	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	XM_064190			74	71		298	293	1		1			0	0	47	0		1	0	0	0	0	0	0	74	298
HSF5	124535	broad.mit.edu	37	17	56565462	56565462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	ENST00000323777.3	-	1	283	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	58					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcccgccaccgccccccggcc	0.716																																						ENST00000323777.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				16						c.(172-174)ggC>ggT		heat shock transcription factor family member 5							6.0	8.0	7.0					17																	56565462		1869	3769	5638	SO:0001819	synonymous_variant	124535	0	0					g.chr17:56565462G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.174C>T	chr17.hg19:g.56565462G>A		0						p.G58G	NM_001080439.1	NP_001073908.1	1	2	3	2.007770	Q4G112	HSF5_HUMAN		1	283	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	0	1	hg19	c.174C>T	CCDS32690.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	0	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-20.000000	1	0.170000	XM_064190			23	23		96	95	0		1			0	0	11	0		9.999997e-01	0	0	0	0	0	0	23	96
MTMR4	9110	broad.mit.edu	37	17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1127					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453																																						ENST00000323456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3379-3381)ttC>ttA		myotubularin related protein 4							228.0	223.0	225.0					17																	56569901		2203	4300	6503	SO:0001583	missense	9110	0	0					g.chr17:56569901G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3381C>A	chr17.hg19:g.56569901G>T	ENSP00000325285:p.Phe1127Leu	0					MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	p.F1127L	NM_004687.4	NP_004678.3	1	2	3	2.007770	Q9NYA4	MTMR4_HUMAN		18	3505	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	1	1	hg19	c.3381C>A	CCDS11608.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988516	0.93106	.	.	ENSG00000108389	ENST00000323456	D	0.84800	-1.9	5.82	4.73	0.59995	5.82	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.95328	3.655	0.41506	D	0.988312	D	0.76494	0.999	D	0.83275	0.996	D	0.94967	0.8113	10	0.87932	D	0	.	11.6908	0.51514	0.1039:0.0:0.8961:0.0	.	1127	Q9NYA4	MTMR4_HUMAN	L	1127	ENSP00000325285:F1127L	ENSP00000325285:F1127L	F	-	3	2	2	MTMR4	53924900	53924900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.353000	0.66034	1.213000	0.43380	0.655000	0.94253	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	0	0	1		2	2	2	0		0	0	243		243	241	1	2.060000	-20.000000	1	0.170000	NM_004687			212	205		882	853	1		1	1		0	0	243	0		1	1	0	26	0	93	0	212	882
MTMR4	9110	broad.mit.edu	37	17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A	rs559247649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	987					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507																																						ENST00000323456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2959-2961)cCa>cTa		myotubularin related protein 4							193.0	186.0	188.0					17																	56572543		2203	4300	6503	SO:0001583	missense	9110	0	0					g.chr17:56572543G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2960C>T	chr17.hg19:g.56572543G>A	ENSP00000325285:p.Pro987Leu	0					MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	p.P987L	NM_004687.4	NP_004678.3	1	2	3	2.007770	Q9NYA4	MTMR4_HUMAN		16	3084	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	1	1	hg19	c.2960C>T	CCDS11608.1	1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656254	0.29425	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.804396	0.11951	N	0.513693	D	0.84552	0.5497	N	0.16478	0.41	0.39397	D	0.966519	B	0.02656	0.0	B	0.04013	0.001	T	0.76567	-0.2912	10	0.15499	T	0.54	.	11.8846	0.52594	0.0885:0.0:0.9115:0.0	.	987	Q9NYA4	MTMR4_HUMAN	L	987	ENSP00000325285:P987L	ENSP00000325285:P987L	P	-	2	0	0	MTMR4	53927542	53927542	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.504000	0.53347	2.627000	0.88993	0.555000	0.69702	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1		2	2	2	0		0	0	155		155	152	1	2.060000	-3.020885	1	0.170000	NM_004687			163	156		702	689	1		1	1		0	0	155	0		1	1	0	27	0	98	0	163	702
MTMR4	9110	broad.mit.edu	37	17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	258	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617																																						ENST00000323456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(772-774)gCc>gAc		myotubularin related protein 4							60.0	58.0	59.0					17																	56584573		2203	4300	6503	SO:0001583	missense	9110	0	0					g.chr17:56584573G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.773C>A	chr17.hg19:g.56584573G>T	ENSP00000325285:p.Ala258Asp	0					MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	p.A258D	NM_004687.4	NP_004678.3	1	2	3	2.007770	Q9NYA4	MTMR4_HUMAN		9	897	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	1	1	hg19	c.773C>A	CCDS11608.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.482580	0.96307	.	.	ENSG00000108389	ENST00000323456	D	0.91068	-2.78	5.39	5.39	0.77823	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.113387	0.64402	D	0.000011	D	0.96460	0.8845	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	258	Q9NYA4	MTMR4_HUMAN	D	258	ENSP00000325285:A258D	ENSP00000325285:A258D	A	-	2	0	0	MTMR4	53939572	53939572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.713000	0.92767	0.644000	0.83932	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_004687			70	68		316	316	1		1	1		0	0	57	0		1	9.990189e-01	0	5	0	44	0	70	316
MTMR4	9110	broad.mit.edu	37	17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	111					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587																																						ENST00000323456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(331-333)Ctc>Atc		myotubularin related protein 4							55.0	47.0	50.0					17																	56586165		2203	4300	6503	SO:0001583	missense	9110	0	0					g.chr17:56586165G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.331C>A	chr17.hg19:g.56586165G>T	ENSP00000325285:p.Leu111Ile	0					MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	p.L111I	NM_004687.4	NP_004678.3	1	2	3	2.007770	Q9NYA4	MTMR4_HUMAN		6	455	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	1	1	hg19	c.331C>A	CCDS11608.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942278	0.34283	.	.	ENSG00000108389	ENST00000323456	D	0.82893	-1.66	5.91	4.76	0.60689	5.91	4.76	0.60689	.	0.205916	0.42821	D	0.000659	T	0.79293	0.4421	L	0.50333	1.59	0.47547	D	0.999459	P	0.41313	0.745	B	0.39419	0.299	T	0.79988	-0.1571	10	0.44086	T	0.13	.	14.7036	0.69171	0.0825:0.0:0.9175:0.0	.	111	Q9NYA4	MTMR4_HUMAN	I	111	ENSP00000325285:L111I	ENSP00000325285:L111I	L	-	1	0	0	MTMR4	53941164	53941164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.813000	0.96785	0.655000	0.94253	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_004687			51	50		162	156	1		1	1		0	0	48	0		1	9.999506e-01	0	23	0	28	0	51	162
SEPT4	5414	broad.mit.edu	37	17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T	rs369282254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000317268.3	-	11	1479	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D450N|MTMR4_ENST00000579925.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	435					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)			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)					ATGGGGAAGTCGGTACCACTT	0.537											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317268.3	1.000000	0.300000	5.600000e-01	3.600000e-01	0.440000	0.493820	0.440000	0.440000																										0				18						c.(1303-1305)Gac>Aac		septin 4		C	ASN/ASP,ASN/ASP,,ASN/ASP	0,4406		0,0,2203	151.0	148.0	149.0		1279,1303,,1246	5.6	1.0	17		149	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	23,23,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	427/471,435/479,,416/460	56598178	1,13005	2203	4300	6503	SO:0001583	missense	5414	2	121412	38				g.chr17:56598178C>T	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.1303G>A	chr17.hg19:g.56598178C>T	ENSP00000321674:p.Asp435Asn	0		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D450N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|MTMR4_ENST00000579925.1_5'Flank	p.D435N	NM_004574.3	NP_004565.1	1	2	3	2.007770	O43236	SEPT4_HUMAN		11	1479	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	1	1	hg19	c.1303G>A	CCDS11610.1	0	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532635	0.45073	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.53206	0.63;0.64;0.63;0.64	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.293457	0.38837	N	0.001547	T	0.61198	0.2328	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.928;1.0	D;D;D;B;D	0.83275	0.969;0.996;0.969;0.373;0.932	T	0.56414	-0.7983	10	0.39692	T	0.17	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	427;450;416;288;435	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	N	427;449;416;435;416	ENSP00000414779:D427N;ENSP00000321071:D416N;ENSP00000321674:D435N;ENSP00000376801:D416N	ENSP00000321071:D416N	D	-	1	0	0	SEPT4	53953177	53953177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	2.795000	0.96236	0.655000	0.94253	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	0	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-3.659856	1	0.170000	NM_080417			30	28		782	769	0		1	0		0	0	148	0		1	8.897214e-01	0	0	0	102	0	30	782
SEPT4	5414	broad.mit.edu	37	17	56599357	56599357	+	Silent	SNP	G	G	A	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000457347.2_Silent_p.C271C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000583114.1_Silent_p.C109C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	256	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)			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)					TGAAGTACAGGCAGCAGTGCA	0.562																																						ENST00000317268.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(766-768)tgC>tgT		septin 4		G	,,,	0,4406		0,0,2203	175.0	145.0	155.0		744,768,711,711	4.9	1.0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5414	1	121412	33				g.chr17:56599357G>A	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.768C>T	chr17.hg19:g.56599357G>A		0					SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000317256.6_Silent_p.C237C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580844.1_Silent_p.C157C	p.C256C	NM_004574.3	NP_004565.1	1	2	3	2.007770	O43236	SEPT4_HUMAN		6	944	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	1	1	hg19	c.768C>T	CCDS11610.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_080417			69	68		321	312	1		1	1		0	0	74	0		1	9.999992e-01	0	2	0	95	0	69	321
TEX14	56155	broad.mit.edu	37	17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000240361.8	-	23	3602	c.3517G>T	c.(3517-3519)Gac>Tac	p.D1173Y	TEX14_ENST00000389934.3_Missense_Mutation_p.D1167Y|TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	1173					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATACATGTCTTTCTCTTTC	0.353																																						ENST00000240361.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(3517-3519)Gac>Tac		testis expressed 14							338.0	279.0	299.0					17																	56651552		2203	4300	6503	SO:0001583	missense	56155	0	0					g.chr17:56651552C>A	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.3517G>T	chr17.hg19:g.56651552C>A	ENSP00000240361:p.Asp1173Tyr	0					TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y|TEX14_ENST00000389934.3_Missense_Mutation_p.D1167Y	p.D1173Y			1	2	3	2.007770	Q8IWB6	TEX14_HUMAN		23	3602	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	1	1	hg19	c.3517G>T	CCDS56042.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482421	0.63962	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23552	1.9;1.9;1.9	5.51	4.53	0.55603	5.51	4.53	0.55603	.	0.155857	0.45126	D	0.000384	T	0.36193	0.0958	L	0.32530	0.975	0.28234	N	0.92599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.943;0.972;0.974	T	0.12604	-1.0541	10	0.87932	D	0	.	9.7481	0.40459	0.0:0.9023:0.0:0.0977	.	1173;1127;1167	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1173;1167;1127	ENSP00000240361:D1173Y;ENSP00000374584:D1167Y;ENSP00000268910:D1127Y	ENSP00000240361:D1173Y	D	-	1	0	0	TEX14	54006551	54006551	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.067000	0.30616	1.433000	0.47394	0.655000	0.94253	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				64	64		310	307	1		1	0		0	0	80	0		1	3.026412e-02	0	1	0	1	0	64	310
TEX14	56155	broad.mit.edu	37	17	56679270	56679270	+	Silent	SNP	C	C	T	rs549017164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000240361.8	-	13	1678	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	TEX14_ENST00000389934.3_Silent_p.V525V|TEX14_ENST00000349033.5_Silent_p.V525V			Q8IWB6	TEX14_HUMAN	testis expressed 14	531					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTATCTCTGCACTCTGGGGC	0.458																																						ENST00000240361.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				81						c.(1591-1593)gtG>gtA		testis expressed 14							168.0	157.0	161.0					17																	56679270		2203	4300	6503	SO:0001819	synonymous_variant	56155	0	0					g.chr17:56679270C>T	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.1593G>A	chr17.hg19:g.56679270C>T		0					TEX14_ENST00000349033.5_Silent_p.V525V|TEX14_ENST00000389934.3_Silent_p.V525V	p.V531V			1	2	3	2.007770	Q8IWB6	TEX14_HUMAN		13	1678	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	1	1	hg19	c.1593G>A	CCDS56042.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-19.999950	1	0.170000				53	52		319	312	1		1	0		0	0	74	0		1	2.117647e-02	0	0	0	2	0	53	319
RAD51C	5889	broad.mit.edu	37	17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K|RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	92	Interaction with RAD51B, RAD51D and XRCC3.|Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(274-276)Gag>Aag	Homologous recombination	RAD51 paralog C							103.0	94.0	97.0					17																	56772420		2203	4300	6503	SO:0001583	missense	5889	2	121412	34	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	g.chr17:56772420G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.274G>A	chr17.hg19:g.56772420G>A	ENSP00000336701:p.Glu92Lys	0					RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K	p.E92K	NM_058216.1	NP_478123.1	1	2	3	2.007770	O43502	RA51C_HUMAN		2	345	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	1	1	hg19	c.274G>A	CCDS11611.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306102	0.60305	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.38887	1.11;1.4;1.11	5.65	5.65	0.86999	5.65	5.65	0.86999	DNA recombination and repair protein Rad51, C-terminal (1);	0.194459	0.56097	D	0.000035	T	0.39332	0.1074	L	0.46947	1.48	0.40003	D	0.975195	B;B;B	0.24186	0.099;0.026;0.003	B;B;B	0.25987	0.036;0.065;0.015	T	0.20672	-1.0268	10	0.15499	T	0.54	-12.4417	18.3036	0.90172	0.0:0.0:1.0:0.0	.	83;92;92	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	92;92;24	ENSP00000336701:E92K;ENSP00000391450:E92K;ENSP00000407282:E24K	ENSP00000336701:E92K	E	+	1	0	0	RAD51C	54127419	54127419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.903190	1	0.170000	NM_058216			74	73		263	262	1		1	1		0	0	71	0		1	1	0	24	0	79	0	74	263
RAD51C	5889	broad.mit.edu	37	17	56811478	56811478	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56811478G>T	ENST00000337432.4	+	9	1097		c.e9-1			NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTATCTTTCAGCCTCAGGGAT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.995760	0.990000	1.000000																										0				1						c.e9-1	Homologous recombination	RAD51 paralog C							36.0	36.0	36.0					17																	56811478		2203	4299	6502	SO:0001630	splice_region_variant	5889	0	0		Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	g.chr17:56811478G>T	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1027-1G>T	chr17.hg19:g.56811478G>T		0							NM_058216.1	NP_478123.1	1	2	3	2.007770	O43502	RA51C_HUMAN		9	1097	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		O43503|Q3B783	Splice_Site	SNP	ENST00000337432.4	0	1	hg19		CCDS11611.1	1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685825	0.47991	.	.	ENSG00000108384	ENST00000337432;ENST00000413590	.	.	.	4.88	3.91	0.45181	4.88	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2265	0.37410	0.0982:0.0:0.9018:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RAD51C	54166477	54166477	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.795000	0.55499	1.435000	0.47434	0.563000	0.77884	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	0	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-19.901230	1	0.170000	NM_058216	Intron		12	12		71	71	0		1	0		0	0	28	0		9.993589e-01	0	0	0	0	1	0	12	71
PPM1E	22843	broad.mit.edu	37	17	56833506	56833506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	ENST00000308249.2	+	1	277	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		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)			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)			gcccgagcccgaacctgaacT	0.706																																						ENST00000308249.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999773	0.990000	1.000000																										0				33						c.(148-150)Gaa>Aaa		protein phosphatase, Mg2+/Mn2+ dependent, 1E							14.0	16.0	15.0					17																	56833506		2179	4263	6442	SO:0001583	missense	22843	0	0					g.chr17:56833506G>A	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.148G>A	chr17.hg19:g.56833506G>A	ENSP00000312411:p.Glu50Lys	0						p.E50K	NM_014906.4	NP_055721.3	1	2	3	2.007770	Q96MI6	PPM1M_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)	1	277	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	0	1	hg19	c.148G>A	CCDS11613.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595250	0.46318	.	.	ENSG00000175175	ENST00000308249	T	0.24350	1.86	4.15	3.08	0.35506	4.15	3.08	0.35506	.	1.475580	0.05101	U	0.487086	T	0.14056	0.0340	N	0.14661	0.345	0.21020	N	0.999802	P	0.37398	0.593	B	0.25884	0.064	T	0.08310	-1.0728	10	0.32370	T	0.25	.	9.2831	0.37740	0.0:0.221:0.7789:0.0	.	50	Q8WY54-2	.	K	50	ENSP00000312411:E50K	ENSP00000312411:E50K	E	+	1	0	0	PPM1E	54188505	54188505	0.968000	0.33430	0.992000	0.48379	0.210000	0.24377	2.666000	0.46799	2.017000	0.59298	0.462000	0.41574	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_014906			14	14		54	49	0		1			0	0	16	0		9.997607e-01	0	0	0	0	0	0	14	54
TRIM37	4591	broad.mit.edu	37	17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000262294.7	-	22	2876	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	873					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)			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)					TCCAAATCAGTCATCTGCAGT	0.373									Mulibrey Nanism																													ENST00000262294.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2617-2619)Act>Cct		tripartite motif containing 37							87.0	84.0	85.0					17																	57089767		2203	4300	6503	SO:0001583	missense	4591	0	0		Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome	g.chr17:57089767T>G	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.2617A>C	chr17.hg19:g.57089767T>G	ENSP00000262294:p.Thr873Pro	0					TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P	p.T873P	NM_015294.3	NP_056109.1	1	2	3	2.007770	O94972	TRI37_HUMAN		22	2876	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	1	1	hg19	c.2617A>C	CCDS32694.1	1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416675	0.25552	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66099	1.58;1.58;-0.19;1.19	6.07	2.57	0.30868	6.07	2.57	0.30868	.	0.517276	0.21572	N	0.072381	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30361	0.277;0.0;0.0	B;B;B	0.30943	0.122;0.001;0.0	T	0.22452	-1.0216	10	0.39692	T	0.17	-6.1307	0.8622	0.01195	0.151:0.2499:0.1567:0.4424	.	839;751;873	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	P	873;873;751;839	ENSP00000376785:T873P;ENSP00000262294:T873P;ENSP00000365319:T751P;ENSP00000376784:T839P	ENSP00000262294:T873P	T	-	1	0	0	TRIM37	54444549	54444549	0.014000	0.17966	0.257000	0.24404	0.978000	0.69477	-0.062000	0.11674	0.151000	0.19162	0.533000	0.62120	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_015294			69	65		238	230	1		1	1		0	0	46	0		1	9.999959e-01	0	22	0	44	0	69	238
TRIM37	4591	broad.mit.edu	37	17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	62					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)			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)					TTTACTAGTTCTCGTAGCTGG	0.363									Mulibrey Nanism																													ENST00000262294.7	1.000000	0.600000	1	7.800000e-01	0.990000	0.919615	0.990000	1.000000																										0				37						c.(184-186)Gaa>Aaa		tripartite motif containing 37							130.0	107.0	115.0					17																	57165749		2203	4300	6503	SO:0001583	missense	4591	0	0		Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome	g.chr17:57165749C>T	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.184G>A	chr17.hg19:g.57165749C>T	ENSP00000262294:p.Glu62Lys	0					TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K	p.E62K	NM_015294.3	NP_056109.1	1	2	3	2.007770	O94972	TRI37_HUMAN		4	443	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	1	1	hg19	c.184G>A	CCDS32694.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.426551	0.96131	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.17213	2.29;2.29;2.29	5.2	5.2	0.72013	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	D;B	0.64830	0.994;0.128	P;B	0.62184	0.899;0.073	T	0.02226	-1.1192	10	0.54805	T	0.06	-16.9086	18.3457	0.90321	0.0:1.0:0.0:0.0	.	28;62	F8WEE6;O94972	.;TRI37_HUMAN	K	62;62;28	ENSP00000376785:E62K;ENSP00000262294:E62K;ENSP00000376784:E28K	ENSP00000262294:E62K	E	-	1	0	0	TRIM37	54520531	54520531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.445000	0.82738	0.650000	0.86243	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.985890	1	0.170000	NM_015294			16	16		177	173	1		1	1		0	0	27	0		9.999352e-01	9.108463e-01	0	7	0	42	0	16	177
YPEL2	388403	broad.mit.edu	37	17	57466830	57466830	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57466830G>A	ENST00000312655.4	+	4	588		c.e4+1		YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGAAATACGTAAGTATAAA	0.498																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4	1.000000	0.210000	8.200000e-01	3.400000e-01	0.520000	0.568692	0.520000	0.460000																										0				5						c.e4+1		yippee-like 2 (Drosophila)							60.0	53.0	55.0					17																	57466830		2203	4300	6503	SO:0001630	splice_region_variant	388403	0	0					g.chr17:57466830G>A	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.270+1G>A	chr17.hg19:g.57466830G>A		0					YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site		NM_001005404.3	NP_001005404.1	1	2	3	2.007770	Q96QA6	YPEL2_HUMAN		4	588	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Splice_Site	SNP	ENST00000312655.4	0	1	hg19		CCDS32695.1	0	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615140	0.87359	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	YPEL2	54821612	54821612	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	0	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-8.858006	1	0.170000	XM_371070	Intron		6	5		143	141	0		1			0	0	33	0		9.637221e-01	0	0	0	0	0	0	6	143
DHX40	79665	broad.mit.edu	37	17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000251241.4	+	5	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_ENST00000425628.3_Missense_Mutation_p.A134V|DHX40_ENST00000451169.2_Missense_Mutation_p.A112V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	211	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTAATGTCAGCAACTATGGAA	0.358																																						ENST00000251241.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(631-633)gCa>gTa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							55.0	56.0	56.0					17																	57651186		2203	4300	6503	SO:0001583	missense	79665	0	0					g.chr17:57651186C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.632C>T	chr17.hg19:g.57651186C>T	ENSP00000251241:p.Ala211Val	0					DHX40_ENST00000451169.2_Missense_Mutation_p.A112V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	p.A211V	NM_024612.4	NP_078888.4	1	2	3	2.007770	Q8IX18	DHX40_HUMAN		5	779	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	1	1	hg19	c.632C>T	CCDS11617.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.416047	0.96092	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.59772	0.24;0.24	5.56	5.56	0.83823	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.956	D	0.90169	0.4234	10	0.87932	D	0	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	134;211	F5H625;Q8IX18	.;DHX40_HUMAN	V	211;134;211;112	ENSP00000251241:A211V;ENSP00000396039:A112V	ENSP00000251241:A211V	A	+	2	0	0	DHX40	55005968	55005968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.777000	0.95525	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	1	0	1		2	2	2	0		0	0	51		51	83	1	2.060000	-20.000000	1	0.170000	NM_024612			45	44		217	211	0		1	1		0	0	51	0		1	9.998122e-01	0	13	0	52	0	45	217
CLTC	1213	broad.mit.edu	37	17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000393043.1_Missense_Mutation_p.N486D|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	486	Flexible linker.				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)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q11-qter	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""				L	L	ALK, TFE3		ALCL, renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				9						c.(1456-1458)Aat>Gat		clathrin, heavy chain (Hc)							138.0	131.0	133.0					17																	57741290		2203	4300	6503	SO:0001583	missense	1213	0	0					g.chr17:57741290A>G	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.1456A>G	chr17.hg19:g.57741290A>G	ENSP00000269122:p.Asn486Asp	0					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	p.N486D	NM_004859.3	NP_004850.1	1	2	3	2.007770	Q00610	CLH1_HUMAN		9	1730	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	1	1	hg19	c.1456A>G	CCDS32696.1	1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025966	0.54683	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.38	5.38	0.77491	5.38	5.38	0.77491	Armadillo-type fold (2);	0.043136	0.85682	D	0.000000	T	0.18383	0.0441	L	0.41027	1.25	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.20384	0.029;0.006	T	0.05616	-1.0874	10	0.11794	T	0.64	.	15.6795	0.77357	1.0:0.0:0.0:0.0	.	486;486	Q00610;Q00610-2	CLH1_HUMAN;.	D	486	ENSP00000269122:N486D;ENSP00000376763:N486D	ENSP00000269122:N486D	N	+	1	0	0	CLTC	55096072	55096072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.460000	0.39030	AAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004859			86	85		351	347	1		1	1		0	0	89	0		1	1	0	97	0	348	0	86	351
CLTC	1213	broad.mit.edu	37	17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1032	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)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q11-qter	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""				L	L	ALK, TFE3		ALCL, renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				9						c.(3094-3096)Gca>Aca		clathrin, heavy chain (Hc)							87.0	84.0	85.0					17																	57758684		2203	4299	6502	SO:0001583	missense	1213	0	0					g.chr17:57758684G>A	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.3094G>A	chr17.hg19:g.57758684G>A	ENSP00000269122:p.Ala1032Thr	0					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	p.A1032T	NM_004859.3	NP_004850.1	1	2	3	2.007770	Q00610	CLH1_HUMAN		20	3368	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	1	1	hg19	c.3094G>A	CCDS32696.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.310739	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.999;0.992	T	0.65776	-0.6086	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1032;1032	Q00610;Q00610-2	CLH1_HUMAN;.	T	1032	ENSP00000269122:A1032T;ENSP00000376763:A1032T	ENSP00000269122:A1032T	A	+	1	0	0	CLTC	55113466	55113466	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.680000	0.91292	0.557000	0.71058	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_004859			77	77		293	287	1		1	1		0	0	68	0		1	1	0	224	0	625	0	77	293
TUBD1	51174	broad.mit.edu	37	17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T	rs368636067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000592426.1	-	2	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T			Q9UJT1	TBD_HUMAN	tubulin, delta 1	63					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)			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)	ACAAGAACAGCCCGGGCAATT	0.413																																						ENST00000592426.1	1.000000	0.710000	1	8.800000e-01	0.990000	0.957835	0.990000	1.000000																										0				21						c.(187-189)Gct>Act		tubulin, delta 1	Vinblastine(DB00570)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,,	0,4406		0,0,2203	71.0	68.0	69.0		187,187,187,187,,	6.1	1.0	17		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,utr-5,intron	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_016261.3,NM_001193612.1,NM_001193613.1	58,58,58,58,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	63/399,63/397,63/352,63/454,,	57963577	1,13005	2203	4300	6503	SO:0001583	missense	51174	1	121412	31				g.chr17:57963577C>T	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.187G>A	chr17.hg19:g.57963577C>T	ENSP00000468518:p.Ala63Thr	0					TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T	p.A63T			1	2	3	2.007770	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)	2	187	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	1	1	hg19	c.187G>A	CCDS11620.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970893	0.92919	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.047647	0.85682	D	0.000000	D	0.86818	0.6024	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.984;0.987;0.99	D;P;P;D	0.73380	0.98;0.85;0.901;0.94	D	0.87265	0.2282	10	0.87932	D	0	-20.964	20.6634	0.99662	0.0:1.0:0.0:0.0	.	63;63;63;63	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	T	63	ENSP00000320797:A63T;ENSP00000342399:A63T;ENSP00000377785:A63T;ENSP00000365262:A63T	ENSP00000320797:A63T	A	-	1	0	0	TUBD1	55318359	55318359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.416000	0.59815	2.894000	0.99253	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_016261			25	24		255	250	0		1	1		0	0	48	0		9.999998e-01	7.625011e-01	0	5	0	25	0	25	255
RNFT1	51136	broad.mit.edu	37	17	58033915	58033915	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RNFT1_ENST00000442346.2_Splice_Site|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATTCCAAAAGCTGAAAAGAGA	0.303																																						ENST00000305783.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999427	0.990000	1.000000																										0				9						c.e7-1		ring finger protein, transmembrane 1							49.0	46.0	47.0					17																	58033915		1796	4051	5847	SO:0001630	splice_region_variant	51136	0	0					g.chr17:58033915C>A	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.1006-1G>T	chr17.hg19:g.58033915C>A		0					RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Splice_Site		NM_016125.3	NP_057209.3	1	2	3	2.007770	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)	7	1061	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q8N7D0|Q96IZ9|Q9Y686	Splice_Site	SNP	ENST00000305783.8	1	1	hg19		CCDS11622.2	1	.	.	.	.	.	.	.	.	.	.	c	14.27	2.486454	0.44249	.	.	ENSG00000189050	ENST00000305783	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0542	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RNFT1	55388697	55388697	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.784000	0.68990	2.486000	0.83907	0.557000	0.71058	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_016125	Intron		21	20		123	119	1		1			0	0	56	0		9.999979e-01	0	0	0	0	0	0	21	123
USP32	84669	broad.mit.edu	37	17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1376	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)			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)			TGAAGAAGGAGAACCTGTGAA	0.483																																						ENST00000300896.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				62						c.(4126-4128)tCt>tAt		ubiquitin specific peptidase 32							15.0	17.0	17.0					17																	58259106		2121	4240	6361	SO:0001583	missense	84669	0	0					g.chr17:58259106G>T	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.4127C>A	chr17.hg19:g.58259106G>T	ENSP00000300896:p.Ser1376Tyr	0					USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	p.S1376Y	NM_032582.3	NP_115971.2	1	2	3	2.007770	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)	32	4321	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	0	1	hg19	c.4127C>A	CCDS32697.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331647	0.60853	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	5.73	5.73	0.89815	5.73	5.73	0.89815	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053759	0.85682	D	0.000000	T	0.61825	0.2378	L	0.29908	0.895	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.63278	-0.6673	10	0.72032	D	0.01	.	19.2507	0.93923	0.0:0.0:1.0:0.0	.	1376	Q8NFA0	UBP32_HUMAN	Y	1376	ENSP00000300896:S1376Y	ENSP00000300896:S1376Y	S	-	2	0	0	USP32	55613888	55613888	1.000000	0.71417	0.993000	0.49108	0.220000	0.24768	8.998000	0.93550	2.868000	0.98415	0.555000	0.69702	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1		2	2	2	0		0	0	55		55	71	1	2.060000	-3.432209	1	0.170000	NM_032582			33	15		154	99	1		1	1		0	0	55	0		9.999996e-01	9.997458e-01	0	32	0	31	0	33	154
USP32	84669	broad.mit.edu	37	17	58260584	58260584	+	Silent	SNP	G	G	A	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355	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)			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)			TCAGGAGCACGTCCTCTTCCC	0.577																																						ENST00000300896.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(4063-4065)gaC>gaT		ubiquitin specific peptidase 32		G		0,4406		0,0,2203	75.0	68.0	71.0		4065	-2.1	0.1	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	USP32	NM_032582.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1355/1605	58260584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84669	6	121412	40				g.chr17:58260584G>A	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.4065C>T	chr17.hg19:g.58260584G>A		0					USP32_ENST00000592339.1_Silent_p.D1025D	p.D1355D	NM_032582.3	NP_115971.2	1	2	3	2.007770	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)	31	4259	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	1	1	hg19	c.4065C>T	CCDS32697.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_032582			75	74		331	325	1		1	1		0	0	86	0		1	1	0	4	0	126	0	75	331
USP32	84669	broad.mit.edu	37	17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1263	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)			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)			TGTTGCTAAGCAGTGGGTCTT	0.502																																						ENST00000300896.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3787-3789)tGc>tAc		ubiquitin specific peptidase 32							111.0	105.0	107.0					17																	58262867		2203	4297	6500	SO:0001583	missense	84669	0	0					g.chr17:58262867C>T	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.3788G>A	chr17.hg19:g.58262867C>T	ENSP00000300896:p.Cys1263Tyr	0					USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	p.C1263Y	NM_032582.3	NP_115971.2	1	2	3	2.007770	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)	30	3982	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	1	1	hg19	c.3788G>A	CCDS32697.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770304	0.90108	.	.	ENSG00000170832	ENST00000300896	T	0.28666	1.6	5.6	5.6	0.85130	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043342	0.85682	D	0.000000	T	0.38268	0.1034	L	0.43152	1.355	0.80722	D	1	D	0.56287	0.975	P	0.48334	0.574	T	0.12941	-1.0528	10	0.59425	D	0.04	.	19.6082	0.95588	0.0:1.0:0.0:0.0	.	1263	Q8NFA0	UBP32_HUMAN	Y	1263	ENSP00000300896:C1263Y	ENSP00000300896:C1263Y	C	-	2	0	0	USP32	55617649	55617649	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.637000	0.89404	0.650000	0.86243	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	0	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_032582			90	83		447	402	1		1	1		0	0	124	0		1	9.999972e-01	0	39	0	53	0	90	447
USP32	84669	broad.mit.edu	37	17	58286188	58286188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	867	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)			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)			GTTGTCCCAGGCCTAGCAATA	0.323																																						ENST00000300896.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				62						c.(2599-2601)gCc>gTc		ubiquitin specific peptidase 32							64.0	65.0	64.0					17																	58286188		2203	4299	6502	SO:0001630	splice_region_variant	84669	0	0					g.chr17:58286188G>A	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.2599-1C>T	chr17.hg19:g.58286188G>A		0					USP32_ENST00000592339.1_Splice_Site_p.A537V	p.A867V	NM_032582.3	NP_115971.2	1	2	3	2.007770	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)	23	2794	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q7Z5T3|Q9BX85|Q9Y591	Splice_Site	SNP	ENST00000300896.4	1	0	hg19	c.2600C>T	CCDS32697.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.323071	0.95708	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.78	5.78	0.91487	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.47586	-0.9106	10	0.56958	D	0.05	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	867	Q8NFA0	UBP32_HUMAN	V	867	ENSP00000300896:A867V	ENSP00000300896:A867V	A	-	2	0	0	USP32	55640970	55640970	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.807000	0.99171	2.733000	0.93635	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.943920	1	0.170000	NM_032582	Missense_Mutation		44	42		262	256	1		1	1		0	0	45	0		1	9.965160e-01	0	15	0	39	0	44	262
USP32	84669	broad.mit.edu	37	17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	23					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)			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)			TTTTAGCTCTACATCTGTAAC	0.433																																						ENST00000300896.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(67-69)gTa>gCa		ubiquitin specific peptidase 32							105.0	95.0	99.0					17																	58422960		2203	4300	6503	SO:0001583	missense	84669	0	0					g.chr17:58422960A>G	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.68T>C	chr17.hg19:g.58422960A>G	ENSP00000300896:p.Val23Ala	0					USP32_ENST00000393003.3_Missense_Mutation_p.V23A	p.V23A	NM_032582.3	NP_115971.2	1	2	3	2.007770	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)	2	262	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	1	1	hg19	c.68T>C	CCDS32697.1	1	.	.	.	.	.	.	.	.	.	.	A	7.100	0.573970	0.13623	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	4.93	4.93	0.64822	EF-hand-like domain (1);	0.347798	0.28847	N	0.013949	T	0.30947	0.0781	L	0.38531	1.155	0.40988	D	0.984836	B;B	0.23316	0.083;0.002	B;B	0.19946	0.027;0.002	T	0.10823	-1.0613	10	0.07482	T	0.82	.	14.3196	0.66476	1.0:0.0:0.0:0.0	.	23;23	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	A	23	ENSP00000300896:V23A;ENSP00000376727:V23A	ENSP00000300896:V23A	V	-	2	0	0	USP32	55777742	55777742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.133000	0.77259	1.867000	0.54127	0.444000	0.29173	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_032582			57	55		282	276	1		1	1		0	0	80	0		1	9.686824e-01	0	8	0	22	0	57	282
C17orf64	124773	broad.mit.edu	37	17	58506770	58506770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612																																						ENST00000269127.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(475-477)gaC>gaT		chromosome 17 open reading frame 64							42.0	43.0	43.0					17																	58506770		2203	4300	6503	SO:0001819	synonymous_variant	124773	0	0					g.chr17:58506770C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.477C>T	chr17.hg19:g.58506770C>T		0						p.D159D	NM_181707.2	NP_859058.2	1	2	3	2.007770	Q86WR6	CQ064_HUMAN	Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)	5	561	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Q8IY87	Silent	SNP	ENST00000269127.4	1	1	hg19	c.477C>T	CCDS32698.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	0	0	1		17	2	2	1		1	1	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_181707			52	51		188	184	1		1			1	0	46	0		9.999985e-01	0	0	0	0	0	0	52	188
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000390652.5	+	18	1752	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											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)			CCCAGCAAATCGATGGGCGGA	0.348																																						ENST00000390652.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1720-1722)tCg>tTg		breast carcinoma amplified sequence 3							87.0	81.0	83.0					17																	59112065		1805	4080	5885	SO:0001583	missense	54828	0	0					g.chr17:59112065C>T	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.1721C>T	chr17.hg19:g.59112065C>T	ENSP00000375067:p.Ser574Leu	0					BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L	p.S574L	NM_001099432.1	NP_001092902.1	1	2	3	2.007770			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)	18	1752	+				Missense_Mutation	SNP	ENST00000390652.5	1	1	hg19	c.1721C>T	CCDS45749.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	0	BCAS3	56466847	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	1	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-3.983801	1	0.170000	NM_017679			84	83		296	293	1		1	1		0	0	59	0		1	9.999993e-01	0	16	0	59	0	84	296
TBX2	6909	broad.mit.edu	37	17	59482854	59482854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59482854C>T	ENST00000240328.3	+	6	1624	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	448					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CAGGGCCTGGCGCCGCTGGTG	0.711																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3	1.000000	0.400000	1	7.000000e-01	0.990000	0.894245	0.990000	1.000000																										0				9						c.(1342-1344)gCg>gTg		T-box 2							7.0	9.0	8.0					17																	59482854		2143	4217	6360	SO:0001583	missense	6909	0	0					g.chr17:59482854C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1343C>T	chr17.hg19:g.59482854C>T	ENSP00000240328:p.Ala448Val	0					RP11-332H18.4_ENST00000592009.1_RNA	p.A448V	NM_005994.3	NP_005985.3	1	2	3	2.007770	Q13207	TBX2_HUMAN		6	1624	+			Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	0	1	hg19	c.1343C>T	CCDS11627.2	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920502	0.73213	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.175525	0.48767	D	0.000165	T	0.80341	0.4605	L	0.38838	1.175	0.50039	D	0.999841	B	0.30709	0.291	B	0.13407	0.009	T	0.79857	-0.1626	10	0.44086	T	0.13	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	448	Q13207	TBX2_HUMAN	V	448	ENSP00000240328:A448V	ENSP00000240328:A448V	A	+	2	0	0	TBX2	56837636	56837636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.513000	0.53414	2.240000	0.73641	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-9.397790	1	0.170000	NM_005994			4	4		40	40	0		1	0		0	0	10	0		8.934749e-01	7.511943e-01	0	0	0	28	0	4	40
TBX4	9496	broad.mit.edu	37	17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000240335.1	+	8	1508	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	TBX4_ENST00000393853.4_Missense_Mutation_p.S489N|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	488					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)			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						CGGGGGCCCAGCGCCTCATTC	0.597																																						ENST00000240335.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1462-1464)aGc>aAc		T-box 4							56.0	58.0	58.0					17																	59560702		2203	4300	6503	SO:0001583	missense	9496	0	0					g.chr17:59560702G>A	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.1463G>A	chr17.hg19:g.59560702G>A	ENSP00000240335:p.Ser488Asn	0					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.S489N	p.S488N	NM_018488.2	NP_060958.2	1	2	3	2.007770	P57082	TBX4_HUMAN		8	1508	+			A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	1	1	hg19	c.1463G>A	CCDS11629.1	1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501072	0.12822	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.42131	0.98;0.98	5.34	0.827	0.18835	5.34	0.827	0.18835	.	1.492660	0.03395	N	0.202441	T	0.39064	0.1064	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.12837	0.008;0.002	T	0.42310	-0.9459	9	.	.	.	.	17.2199	0.86954	0.0:0.4701:0.5299:0.0	.	489;488	A5PKU7;P57082	.;TBX4_HUMAN	N	489;488	ENSP00000377435:S489N;ENSP00000240335:S488N	.	S	+	2	0	0	TBX4	56915484	56915484	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	0.481000	0.22260	-0.046000	0.13446	-0.165000	0.13383	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_018488			71	69		302	296	1		1	1		0	0	62	0		1	3.727660e-02	0	2	0	0	0	71	302
NACA2	342538	broad.mit.edu	37	17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	52					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512																																						ENST00000521764.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(154-156)tgG>tgA		nascent polypeptide-associated complex alpha subunit 2							119.0	110.0	113.0					17																	59668386		2203	4300	6503	SO:0001587	stop_gained	342538	0	0					g.chr17:59668386C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.156G>A	chr17.hg19:g.59668386C>T	ENSP00000427802:p.Trp52*	0						p.W52*	NM_199290.3	NP_954984.1	1	2	3	2.007770	Q9H009	NACA2_HUMAN		1	177	-	all_epithelial(1;3.12e-14)		Q2VIR9	Nonsense_Mutation	SNP	ENST00000521764.1	0	1	hg19	c.156G>A	CCDS11630.1	1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043673	0.36085	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	0.753	0.753	0.18404	.	0.213702	0.30093	U	0.010435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	.	W	-	3	0	0	NACA2	57023168	57023168	1.000000	0.71417	0.296000	0.24974	0.035000	0.12851	4.906000	0.63293	0.702000	0.31825	0.411000	0.27672	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-20.000000	1	0.170000	NM_199290			153	147		646	632	0		1			0	0	148	0		1	0	0	0	0	0	0	153	646
WSCD1	23302	broad.mit.edu	37	17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	148	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537																																						ENST00000574946.1	1.000000	0.320000	7.300000e-01	4.100000e-01	0.540000	0.584330	0.540000	0.510000																										0				35						c.(442-444)tgC>tgA		WSC domain containing 1							143.0	122.0	129.0					17																	5991326		2203	4300	6503	SO:0001587	stop_gained	23302	1	121412	30				g.chr17:5991326C>A		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.444C>A	chr17.hg19:g.5991326C>A	ENSP00000460825:p.Cys148*	0					WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*	p.C148*			1	2	3	2.017774	Q658N2	WSCD1_HUMAN		3	834	+			A8K0N8|D3DTM3|O60276|Q96G45	Nonsense_Mutation	SNP	ENST00000574946.1	0	1	hg19	c.444C>A	CCDS32538.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.311578	0.95655	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	5.97	0.48	0.16804	5.97	0.48	0.16804	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1992	5.589	0.17291	0.0:0.5469:0.1346:0.3186	.	.	.	.	X	148	.	ENSP00000323087:C148X	C	+	3	2	2	WSCD1	5932050	5932050	0.993000	0.37304	0.990000	0.47175	0.070000	0.16714	0.321000	0.19558	0.098000	0.17522	-0.140000	0.14226	TGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.318794	1	0.170000	NM_015253			18	17		397	389	0		1	0		0	0	76	0		9.999793e-01	2.180074e-03	0	0	0	2	0	18	397
BRIP1	83990	broad.mit.edu	37	17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1167					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)			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						AAGGTCTTTAGCTAAAATGCA	0.338			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	yes	Rec		Fanconi anaemia J, breast cancer susceptiblity	17	17q22	17q22	83990	F, N, Mis	BRCA1 interacting protein C-terminal helicase 1				"""L, E"""	L, E		AML, leukemia, breast			0				55						c.(3499-3501)gCt>gTt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							73.0	72.0	73.0					17																	59760907		2203	4298	6501	SO:0001583	missense	83990	0	0					g.chr17:59760907G>A	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.3500C>T	chr17.hg19:g.59760907G>A	ENSP00000259008:p.Ala1167Val	0						p.A1167V	NM_032043.2	NP_114432.2	1	2	3	2.007770	Q9BX63	FANCJ_HUMAN		20	3767	-			Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	1	1	hg19	c.3500C>T	CCDS11631.1	1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018504	0.19355	.	.	ENSG00000136492	ENST00000259008	T	0.78481	-1.18	5.69	4.72	0.59763	5.69	4.72	0.59763	.	0.908560	0.09403	N	0.806853	T	0.64438	0.2598	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.50233	-0.8852	9	.	.	.	-2.3141	11.8611	0.52467	0.0815:0.0:0.9185:0.0	.	1167	Q9BX63	FANCJ_HUMAN	V	1167	ENSP00000259008:A1167V	.	A	-	2	0	0	BRIP1	57115689	57115689	0.051000	0.20477	0.861000	0.33841	0.098000	0.18820	0.409000	0.21082	1.400000	0.46741	0.563000	0.77884	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.999990	1	0.170000	NM_032043			43	42		191	187	1		1	0		0	0	36	0		1	2.362666e-01	0	0	0	5	0	43	191
INTS2	57508	broad.mit.edu	37	17	59947320	59947320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59947320C>T	ENST00000444766.3	-	21	2907	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	INTS2_ENST00000251334.6_Silent_p.E936E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	944					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				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						GTAGGCAAATCTCTAAGAGAA	0.343																																						ENST00000444766.3	1.000000	0.180000	6.000000e-01	2.700000e-01	0.400000	0.454400	0.400000	0.360000																										0				38						c.(2830-2832)gaG>gaA		integrator complex subunit 2							53.0	52.0	52.0					17																	59947320		1832	4092	5924	SO:0001819	synonymous_variant	57508	0	0					g.chr17:59947320C>T	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.2832G>A	chr17.hg19:g.59947320C>T		0					INTS2_ENST00000251334.6_Silent_p.E936E	p.E944E	NM_020748.2	NP_065799	1	2	3	2.007770	Q9H0H0	INT2_HUMAN		21	2907	-			Q9ULD3	Silent	SNP	ENST00000444766.3	0	1	hg19	c.2832G>A	CCDS45750.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	0	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-9.806611	1	0.170000	NM_020748			8	8		248	247	0		1	0		0	0	63	0		9.895182e-01	3.535398e-01	0	0	0	36	0	8	248
MED13	9969	broad.mit.edu	37	17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2042					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)			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						CCGATCAGTACTCTGACCCTT	0.378																																						ENST00000397786.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(6124-6126)aGt>aAt		mediator complex subunit 13							95.0	85.0	88.0					17																	60028352		1881	4129	6010	SO:0001583	missense	9969	0	0					g.chr17:60028352C>T	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.6125G>A	chr17.hg19:g.60028352C>T	ENSP00000380888:p.Ser2042Asn	0						p.S2042N	NM_005121.2	NP_005112.2	1	2	3	2.007770	Q9UHV7	MED13_HUMAN		28	6201	-			B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	1	1	hg19	c.6125G>A	CCDS42366.1	1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781751	0.16120	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.086896	0.85682	D	0.000000	T	0.78413	0.4279	L	0.43152	1.355	0.40256	D	0.978125	B	0.02656	0.0	B	0.08055	0.003	T	0.72567	-0.4254	10	0.10111	T	0.7	-14.3882	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2042	Q9UHV7	MED13_HUMAN	N	2042;2041	ENSP00000380888:S2042N	ENSP00000262436:S2041N	S	-	2	0	0	MED13	57383134	57383134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.735000	0.68587	2.873000	0.98535	0.561000	0.74099	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	0		2	2	2	0		0	0	62		62	59	1	2.060000	-20.000000	1	0.170000	NM_005121			54	53		267	265	1		1	1		0	0	62	0		1	9.999997e-01	0	34	0	80	0	54	267
MED13	9969	broad.mit.edu	37	17	60042453	60042453	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1586					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)			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						ATGTCTGTTGCCCTCCTAGCT	0.453																																						ENST00000397786.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(4756-4758)ggG>ggA		mediator complex subunit 13							95.0	94.0	94.0					17																	60042453		2001	4181	6182	SO:0001819	synonymous_variant	9969	0	0					g.chr17:60042453C>T	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.4758G>A	chr17.hg19:g.60042453C>T		0						p.G1586G	NM_005121.2	NP_005112.2	1	2	3	2.007770	Q9UHV7	MED13_HUMAN		20	4834	-			B2RU05|O60334	Silent	SNP	ENST00000397786.2	1	1	hg19	c.4758G>A	CCDS42366.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_005121			52	50		212	209	1		1	1		0	0	61	0		1	1	0	24	0	101	0	52	212
MED13	9969	broad.mit.edu	37	17	60062374	60062374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	821					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)			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						TGCAAGATAACGGGTCCAGAT	0.378																																						ENST00000397786.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2461-2463)ccG>ccA		mediator complex subunit 13							208.0	194.0	198.0					17																	60062374		1843	4090	5933	SO:0001819	synonymous_variant	9969	1	120814	31				g.chr17:60062374C>T	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.2463G>A	chr17.hg19:g.60062374C>T		0						p.P821P	NM_005121.2	NP_005112.2	1	2	3	2.007770	Q9UHV7	MED13_HUMAN		13	2539	-			B2RU05|O60334	Silent	SNP	ENST00000397786.2	1	1	hg19	c.2463G>A	CCDS42366.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	1		2	2	2	0		0	0	161		161	159	1	2.060000	-20.000000	1	0.170000	NM_005121			115	113		601	599	1		1	1		0	0	161	0		1	9.999311e-01	0	16	0	57	0	115	601
EFCAB3	146779	broad.mit.edu	37	17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000305286.3	+	7	745	c.667C>A	c.(667-669)Ctt>Att	p.L223I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L275I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	223							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393																																						ENST00000305286.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(667-669)Ctt>Att		EF-hand calcium binding domain 3							45.0	46.0	46.0					17																	60484019		2203	4300	6503	SO:0001583	missense	146779	0	0					g.chr17:60484019C>A	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.667C>A	chr17.hg19:g.60484019C>A	ENSP00000302649:p.Leu223Ile	0					EFCAB3_ENST00000450662.2_Missense_Mutation_p.L275I	p.L223I	NM_173503.3	NP_775774.1	1	2	3	2.007770	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)	7	745	+			J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	1	1	hg19	c.667C>A	CCDS11632.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483978	0.63962	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.67865	-0.29;-0.23	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000085	T	0.80839	0.4700	M	0.75777	2.31	0.35585	D	0.806632	D	0.76494	0.999	D	0.76071	0.987	D	0.86008	0.1499	10	0.87932	D	0	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	223	Q8N7B9	EFCB3_HUMAN	I	275;223	ENSP00000403932:L275I;ENSP00000302649:L223I	ENSP00000302649:L223I	L	+	1	0	0	EFCAB3	57837751	57837751	0.998000	0.40836	1.000000	0.80357	0.629000	0.37895	1.748000	0.38308	2.785000	0.95823	0.591000	0.81541	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_173503			46	46		222	218	1		1			0	0	43	0		1	0	0	0	0	0	0	46	222
METTL2A	339175	broad.mit.edu	37	17	60503706	60503706	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	ENST00000311506.5	+	3	285	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACTTCTACAAAATCCACGAAA	0.338																																						ENST00000311506.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(247-249)aaA>aaC		methyltransferase like 2A							22.0	18.0	19.0					17																	60503706		692	1578	2270	SO:0001583	missense	339175	0	0					g.chr17:60503706A>C	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.249A>C	chr17.hg19:g.60503706A>C	ENSP00000309610:p.Lys83Asn	0						p.K83N	NM_181725.3	NP_859076.3	1	2	3	2.007770	Q96IZ6	MET2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)	3	285	+			A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	0	1	hg19	c.249A>C	CCDS45752.1	1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698488	0.30142	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	T	0.03951	3.75	5.14	4.06	0.47325	5.14	4.06	0.47325	.	0.134389	0.64402	D	0.000003	T	0.09024	0.0223	M	0.84433	2.695	0.31216	N	0.69804	B	0.14805	0.011	B	0.17722	0.019	T	0.03354	-1.1045	10	0.52906	T	0.07	-3.801	6.1331	0.20217	0.7528:0.1626:0.0846:0.0	.	83	Q96IZ6	MTL2A_HUMAN	N	83	ENSP00000309610:K83N	ENSP00000309610:K83N	K	+	3	2	2	METTL2A	57857438	57857438	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.612000	0.36889	0.909000	0.36697	0.454000	0.30748	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	0	0	1		2	2	2	0		0	0	44		44	79	1	2.060000	-20.000000	1	0.170000	NM_181725			49	41		200	165	0		1	1		0	0	44	0		1	9.939408e-01	0	10	0	25	0	49	200
METTL2A	339175	broad.mit.edu	37	17	60504005	60504005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	ENST00000311506.5	+	3	584	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GCCACCTACCGAATACTGGAG	0.413																																						ENST00000311506.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				6						c.(547-549)cGa>cAa		methyltransferase like 2A							26.0	18.0	21.0					17																	60504005		1955	4109	6064	SO:0001583	missense	339175	3	120158	32				g.chr17:60504005G>A	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.548G>A	chr17.hg19:g.60504005G>A	ENSP00000309610:p.Arg183Gln	0						p.R183Q	NM_181725.3	NP_859076.3	1	2	3	2.007770	Q96IZ6	MET2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)	3	584	+			A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	0	1	hg19	c.548G>A	CCDS45752.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.118826|5.118826	0.94385|0.94385	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.16743	.|2.32	5.22|5.22	5.22|5.22	0.72569|0.72569	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64042	.|0.921	T|T	0.37197|0.37197	-0.9716|-0.9716	6|10	0.29301|0.54805	T|T	0.29|0.06	0.0705|0.0705	15.4721|15.4721	0.75446|0.75446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183	.|Q96IZ6	.|MTL2A_HUMAN	K|Q	182|183	.|ENSP00000309610:R183Q	ENSP00000331401:E182K|ENSP00000309610:R183Q	E|R	+|+	1|2	0|0	0|0	METTL2A|METTL2A	57857737|57857737	57857737|57857737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.073000|9.073000	0.93992|0.93992	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GAA|CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	0	0	1		2	2	2	0		0	0	15		15	27	1	2.060000	-20.000000	1	0.170000	NM_181725			16	9		62	43	0		1	0		0	0	15	0		9.992780e-01	1.995858e-01	0	1	0	3	0	16	62
METTL2A	339175	broad.mit.edu	37	17	60518112	60518112	+	Silent	SNP	A	A	G	rs191922122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	268					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433													A|||	2	0.000399361	0.0008	0.0	5008	,	,		21599	0.001		0.0	False		,,,				2504	0.0					ENST00000311506.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(802-804)ccA>ccG		methyltransferase like 2A							232.0	226.0	228.0					17																	60518112		2203	4300	6503	SO:0001819	synonymous_variant	339175	2	121412	37				g.chr17:60518112A>G	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.804A>G	chr17.hg19:g.60518112A>G		0						p.P268P	NM_181725.3	NP_859076.3	1	2	3	2.007770	Q96IZ6	MET2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)	6	840	+			A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	1	1	hg19	c.804A>G	CCDS45752.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	1	0	1		2	2	2	0		0	0	161		161	170	1	2.060000	-20.000000	1	0.170000	NM_181725			137	133		642	603	1		1	1		0	0	161	0		1	9.999994e-01	0	19	0	76	0	137	642
METTL2A	339175	broad.mit.edu	37	17	60522267	60522267	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	293					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488																																						ENST00000311506.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				6						c.(877-879)taC>taT		methyltransferase like 2A							106.0	101.0	102.0					17																	60522267		2203	4300	6503	SO:0001819	synonymous_variant	339175	8	121412	39				g.chr17:60522267C>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.879C>T	chr17.hg19:g.60522267C>T		0						p.Y293Y	NM_181725.3	NP_859076.3	1	2	3	2.007770	Q96IZ6	MET2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)	7	915	+			A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	1	1	hg19	c.879C>T	CCDS45752.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.359809	1	0.170000	NM_181725			36	36		185	179	1		1	1		0	0	55	0		1	9.999985e-01	0	38	0	73	0	36	185
TLK2	11011	broad.mit.edu	37	17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000326270.9	+	11	1134	c.866G>T	c.(865-867)aGc>aTc	p.S289I	TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000582809.1_Missense_Mutation_p.S140I	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	289					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)			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						AGAGATAAGAGCATGCAAGAC	0.413																																						ENST00000326270.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(865-867)aGc>aTc		tousled-like kinase 2							116.0	97.0	103.0					17																	60642396		2203	4300	6503	SO:0001583	missense	11011	0	0					g.chr17:60642396G>T	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.866G>T	chr17.hg19:g.60642396G>T	ENSP00000316512:p.Ser289Ile	0					TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000582809.1_Missense_Mutation_p.S140I	p.S289I	NM_001284333.1	NP_001271262.1	1	2	3	2.007770	Q86UE8	TLK2_HUMAN		11	1134	+			D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	1	1	hg19	c.866G>T		1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913136	0.52439	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.14;-0.19;-0.15;-0.19	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.36672	1.1	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.094;0.409	D;B;B;B	0.87578	0.998;0.032;0.108;0.119	T	0.63659	-0.6587	10	0.18710	T	0.47	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	289;257;289;289	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	I	289;257;289;257	ENSP00000275780:S289I;ENSP00000340800:S257I;ENSP00000316512:S289I;ENSP00000442311:S257I	ENSP00000316512:S289I	S	+	2	0	0	TLK2	57996128	57996128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_006852			54	53		237	234	1		1	1		0	0	54	0		1	9.999718e-01	0	12	0	59	0	54	237
TLK2	11011	broad.mit.edu	37	17	60685440	60685440	+	Silent	SNP	A	A	G	rs200531780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000326270.9	+	22	2344	c.2076A>G	c.(2074-2076)caA>caG	p.Q692Q	TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000582809.1_Silent_p.Q521Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	692	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)			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						ACATCCTACAAGAGAATACGA	0.398																																						ENST00000326270.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2074-2076)caA>caG		tousled-like kinase 2							75.0	76.0	76.0					17																	60685440		2203	4299	6502	SO:0001819	synonymous_variant	11011	0	0					g.chr17:60685440A>G	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.2076A>G	chr17.hg19:g.60685440A>G		0					TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000582809.1_Silent_p.Q521Q	p.Q692Q	NM_001284333.1	NP_001271262.1	1	2	3	2.007770	Q86UE8	TLK2_HUMAN		22	2344	+			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	1	1	hg19	c.2076A>G		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	0		2	2	2	0		0	0	48		48	49	1	2.060000	-20.000000	1	0.170000	NM_006852			58	58		244	240	1		1	1		0	0	48	0		1	9.975339e-01	0	10	0	31	0	58	244
TLK2	11011	broad.mit.edu	37	17	60685485	60685485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000326270.9	+	22	2389	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000582809.1_Silent_p.K536K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	707	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)			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						TCCCGCCAAAGCCAGTAGTAA	0.418																																						ENST00000326270.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				39						c.(2119-2121)aaG>aaA		tousled-like kinase 2							73.0	74.0	74.0					17																	60685485		2203	4300	6503	SO:0001819	synonymous_variant	11011	0	0					g.chr17:60685485G>A	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.2121G>A	chr17.hg19:g.60685485G>A		0					TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000582809.1_Silent_p.K536K	p.K707K	NM_001284333.1	NP_001271262.1	1	2	3	2.007770	Q86UE8	TLK2_HUMAN		22	2389	+			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	1	1	hg19	c.2121G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_006852			37	37		195	192	1		1	1		0	0	38	0		1	9.999998e-01	0	19	0	112	0	37	195
MRC2	9902	broad.mit.edu	37	17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	370					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCGAGCCCACCCCTCCAGGT	0.692																																						ENST00000303375.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.991653	0.990000	1.000000																										0				53						c.(1108-1110)aCc>aTc		mannose receptor, C type 2							46.0	41.0	42.0					17																	60744886		2203	4300	6503	SO:0001583	missense	9902	0	0					g.chr17:60744886C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1109C>T	chr17.hg19:g.60744886C>T	ENSP00000307513:p.Thr370Ile	0						p.T370I	NM_006039.4	NP_006030.2	1	2	3	2.007770	Q9UBG0	MRC2_HUMAN		6	1511	+			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	1	1	hg19	c.1109C>T	CCDS11634.1	1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513668	0.27123	.	.	ENSG00000011028	ENST00000303375	T	0.06933	3.24	4.69	-1.81	0.07882	4.69	-1.81	0.07882	C-type lectin-like (1);	0.910434	0.09602	N	0.780066	T	0.02083	0.0065	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.20519	T	0.43	-4.4615	1.3201	0.02114	0.1546:0.241:0.1522:0.4521	.	370	Q9UBG0	MRC2_HUMAN	I	370	ENSP00000307513:T370I	ENSP00000307513:T370I	T	+	2	0	0	MRC2	58098618	58098618	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.366000	0.20365	-0.496000	0.06650	-0.379000	0.06801	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				34	33		296	289	0		1	0		0	0	60	0		1	9.999999e-01	0	0	0	226	0	34	296
MRC2	9902	broad.mit.edu	37	17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	740	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGAGATCCACGAGCAGCACTG	0.632																																						ENST00000303375.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2218-2220)Gag>Aag		mannose receptor, C type 2							54.0	45.0	48.0					17																	60757183		2203	4300	6503	SO:0001583	missense	9902	0	0					g.chr17:60757183G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2218G>A	chr17.hg19:g.60757183G>A	ENSP00000307513:p.Glu740Lys	0					MRC2_ENST00000446119.2_5'Flank	p.E740K	NM_006039.4	NP_006030.2	1	2	3	2.007770	Q9UBG0	MRC2_HUMAN		14	2620	+			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	1	1	hg19	c.2218G>A	CCDS11634.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	4.46	4.46	0.54185	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16217	-1.0410	10	0.16420	T	0.52	-27.2539	16.9236	0.86169	0.0:0.0:1.0:0.0	.	740	Q9UBG0	MRC2_HUMAN	K	740	ENSP00000307513:E740K	ENSP00000307513:E740K	E	+	1	0	0	MRC2	58110915	58110915	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	7.222000	0.78025	2.310000	0.77875	0.305000	0.20034	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000				36	36		115	113	1		1	0		0	0	28	0		1	1	0	1	0	250	0	36	115
MRC2	9902	broad.mit.edu	37	17	60767314	60767314	+	Silent	SNP	C	C	T	rs568390139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1211	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGCAGGACGGGGAGCCGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12766	0.0		0.0	False		,,,				2504	0.0					ENST00000303375.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3631-3633)gaC>gaT		mannose receptor, C type 2							13.0	18.0	16.0					17																	60767314		2192	4285	6477	SO:0001819	synonymous_variant	9902	0	0					g.chr17:60767314C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3633C>T	chr17.hg19:g.60767314C>T		0					MRC2_ENST00000446119.2_Silent_p.D77D	p.D1211D	NM_006039.4	NP_006030.2	1	2	3	2.007770	Q9UBG0	MRC2_HUMAN		25	4035	+			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	1	1	hg19	c.3633C>T	CCDS11634.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				33	30		110	109	0		1	1		0	0	26	0		1	1	0	3	0	217	0	33	110
MARCH10	162333	broad.mit.edu	37	17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000311269.5	-	6	858	c.584G>T	c.(583-585)aGg>aTg	p.R195M	MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000544856.2_Missense_Mutation_p.R194M	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	195					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGATTTGGCCTCTTCAGCTT	0.468																																						ENST00000311269.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(583-585)aGg>aTg		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							261.0	247.0	252.0					17																	60814645		2203	4300	6503	SO:0001583	missense	162333	0	0					g.chr17:60814645C>A	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.584G>T	chr17.hg19:g.60814645C>A	ENSP00000311496:p.Arg195Met	0					RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|MARCH10_ENST00000544856.2_Missense_Mutation_p.R194M|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	p.R195M	NM_152598.2	NP_689811.2	1	2	3	2.007770	Q8NA82	MARHA_HUMAN		6	858	-			D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	1	1	hg19	c.584G>T	CCDS11635.1	1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107752	0.08780	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33216	1.42;1.42;1.42	4.98	1.82	0.25136	4.98	1.82	0.25136	.	0.185545	0.38164	N	0.001786	T	0.41719	0.1171	M	0.64997	1.995	0.22562	N	0.998987	D;D;D	0.59357	0.975;0.985;0.975	P;P;P	0.55161	0.594;0.77;0.594	T	0.31833	-0.9929	10	0.87932	D	0	-5.5333	10.1264	0.42652	0.0:0.7488:0.0:0.2512	.	194;194;195	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	M	195;195;194	ENSP00000416177:R195M;ENSP00000311496:R195M;ENSP00000443746:R194M	ENSP00000311496:R195M	R	-	2	0	0	MARCH10	58168377	58168377	0.972000	0.33761	0.908000	0.35775	0.230000	0.25150	0.652000	0.24888	-0.072000	0.12864	-1.134000	0.01955	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	1	0	1		20	2	2	0		0	1	231		231	229	1	2.060000	-20.000000	1	0.170000	NM_152598			247	241		1088	1064	1		1			0	0	231	0		1	0	0	0	0	0	0	247	1088
TANC2	26115	broad.mit.edu	37	17	61417467	61417467	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Silent_p.V453V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	453					in utero embryonic development (GO:0001701)					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						TGCAGGTGGTTGCCTATCACT	0.423																																						ENST00000424789.2	1.000000	0.570000	1	7.600000e-01	0.990000	0.908620	0.990000	1.000000																										0				44						c.(1357-1359)gtT>gtG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							87.0	81.0	83.0					17																	61417467		1986	4178	6164	SO:0001819	synonymous_variant	26115	0	0					g.chr17:61417467T>G	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.1359T>G	chr17.hg19:g.61417467T>G		0					TANC2_ENST00000389520.4_Silent_p.V453V|AC037445.1_ENST00000581421.1_RNA	p.V453V	NM_025185.3	NP_079461.2	1	2	3	2.007770	Q9HCD6	TANC2_HUMAN		10	1363	+			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	1	1	hg19	c.1359T>G	CCDS45754.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.545150	1	0.170000				14	14		158	155	0		1	1		0	0	45	0		9.997675e-01	5.855267e-01	0	2	0	21	0	14	158
TANC2	26115	broad.mit.edu	37	17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	952					in utero embryonic development (GO:0001701)					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						AGAACGGGCAGTGTGCTTTGG	0.502																																						ENST00000424789.2	1.000000	0.570000	1	8.100000e-01	0.990000	0.933711	0.990000	1.000000																										0				44						c.(2854-2856)caG>caT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							104.0	108.0	107.0					17																	61473130		2119	4242	6361	SO:0001583	missense	26115	0	0					g.chr17:61473130G>T	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.2856G>T	chr17.hg19:g.61473130G>T	ENSP00000387593:p.Gln952His	0					AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H|RP11-269G24.3_ENST00000583552.1_RNA	p.Q952H	NM_025185.3	NP_079461.2	1	2	3	2.007770	Q9HCD6	TANC2_HUMAN		16	2860	+			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	0	1	hg19	c.2856G>T	CCDS45754.1	1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15603	2.41;2.41	5.78	4.81	0.61882	5.78	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31526	0.94	0.52099	D	0.999949	D;D	0.89917	0.998;1.0	D;D	0.83275	0.964;0.996	T	0.03008	-1.1083	10	0.44086	T	0.13	.	15.0437	0.71811	0.0683:0.0:0.9317:0.0	.	952;952	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	952	ENSP00000374171:Q952H;ENSP00000387593:Q952H	ENSP00000374171:Q952H	Q	+	3	2	2	TANC2	58826862	58826862	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.902000	0.63266	1.447000	0.47661	-0.137000	0.14449	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-15.611750	1	0.170000				10	10		100	99	1		1	1		0	0	20	0		9.971921e-01	3.660285e-01	0	2	0	11	0	10	100
TANC2	26115	broad.mit.edu	37	17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1458					in utero embryonic development (GO:0001701)					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						CATCTCCAGCTCACCTCTTGG	0.607																																						ENST00000424789.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(4372-4374)Tca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							97.0	96.0	97.0					17																	61497715		1978	4165	6143	SO:0001583	missense	26115	0	0					g.chr17:61497715T>A	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.4372T>A	chr17.hg19:g.61497715T>A	ENSP00000387593:p.Ser1458Thr	0					TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T|RP11-269G24.3_ENST00000583552.1_RNA	p.S1458T	NM_025185.3	NP_079461.2	1	2	3	2.007770	Q9HCD6	TANC2_HUMAN		25	4376	+			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	1	1	hg19	c.4372T>A	CCDS45754.1	1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698321	0.68386	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70986	-0.53;-0.53	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.70193	0.3196	N	0.19112	0.55	0.46241	D	0.998941	P	0.49447	0.924	P	0.57776	0.827	T	0.73154	-0.4072	10	0.51188	T	0.08	.	13.7905	0.63138	0.0:0.0:0.0:1.0	.	1458	Q9HCD6	TANC2_HUMAN	T	1468;1458	ENSP00000374171:S1468T;ENSP00000387593:S1458T	ENSP00000374171:S1468T	S	+	1	0	0	TANC2	58851447	58851447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.808000	0.75206	2.012000	0.59069	0.459000	0.35465	TCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000				63	61		266	257	1		1	0		0	0	59	0		1	9.865273e-01	0	1	0	30	0	63	266
TANC2	26115	broad.mit.edu	37	17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1909					in utero embryonic development (GO:0001701)					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						AACCAACAATGCACAGAATGG	0.542																																						ENST00000424789.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(5725-5727)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							92.0	90.0	91.0					17																	61499068		2078	4214	6292	SO:0001583	missense	26115	0	0					g.chr17:61499068G>A	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.5725G>A	chr17.hg19:g.61499068G>A	ENSP00000387593:p.Ala1909Thr	0					TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T|RP11-269G24.3_ENST00000583552.1_RNA	p.A1909T	NM_025185.3	NP_079461.2	1	2	3	2.007770	Q9HCD6	TANC2_HUMAN		25	5729	+			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	1	1	hg19	c.5725G>A	CCDS45754.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061563	0.76187	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.68503	-0.5391	10	0.30078	T	0.28	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	1909	Q9HCD6	TANC2_HUMAN	T	1919;1909	ENSP00000374171:A1919T;ENSP00000387593:A1909T	ENSP00000374171:A1919T	A	+	1	0	0	TANC2	58852800	58852800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	2.868000	0.98415	0.555000	0.69702	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	0	0	1		17	4	2	1		1	1	60		60	60	1	2.060000	-20.000000	1	0.170000				67	62		262	253	1		1	1		1	0	60	0		1	8.639188e-01	0	4	0	25	0	67	262
ACE	1636	broad.mit.edu	37	17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A	rs199697957|rs387906576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000577647.1_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	440	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATCGGCCTGCTGGACCGTGT	0.652																																						ENST00000290866.4	1.000000	0.360000	7.000000e-01	4.500000e-01	0.550000	0.591442	0.550000	0.540000																										0				51						c.(1318-1320)Ctg>Atg		angiotensin I converting enzyme	Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						71.0	69.0	70.0					17																	61560026		2203	4300	6503	SO:0001583	missense	1636	0	0					g.chr17:61560026C>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1318C>A	chr17.hg19:g.61560026C>A	ENSP00000290866:p.Leu440Met	0					ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000413513.3_5'Flank	p.L440M	NM_000789.3	NP_000780.1	1	2	3	2.007770	P12821	ACE_HUMAN		8	1342	+			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	1	0	hg19	c.1318C>A	CCDS11637.1	0	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800922	0.50315	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50548	0.74;0.74;0.74	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.93594	3.435	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.925	D;D;D	0.91635	0.999;0.999;0.94	D	0.84157	0.0426	10	0.72032	D	0.01	-20.1876	17.8129	0.88622	0.0:1.0:0.0:0.0	.	440;440;440	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	440	ENSP00000439591:L440M;ENSP00000290866:L440M;ENSP00000397593:L440M	ENSP00000290866:L440M	L	+	1	2	2	ACE	58913758	58913758	0.998000	0.40836	0.999000	0.59377	0.056000	0.15407	3.852000	0.55934	2.434000	0.82447	0.561000	0.74099	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-5.139542	1	0.170000				26	24		544	536	0		1	0		0	0	95	0		9.999999e-01	8.712913e-01	0	0	0	78	0	26	544
KCNH6	81033	broad.mit.edu	37	17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	231					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)			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)	TCCCTGGGCGCGGATGTGCTG	0.687																																						ENST00000583023.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(691-693)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						55.0	53.0	53.0					17																	61611263		2203	4300	6503	SO:0001583	missense	81033	8	121400	40				g.chr17:61611263C>T	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.692C>T	chr17.hg19:g.61611263C>T	ENSP00000463533:p.Ala231Val	0					KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	p.A231V	NM_030779.2	NP_110406.1	1	2	3	2.007770	Q9H252	KCNH6_HUMAN		5	703	+			Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	1	1	hg19	c.692C>T	CCDS11638.1	1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267669	0.23136	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99060	-5.38;-5.38	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.062977	0.64402	D	0.000007	D	0.99089	0.9687	M	0.76727	2.345	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.868;0.997;0.967	D;D;B;P;P	0.68765	0.96;0.946;0.355;0.886;0.783	D	0.99305	1.0902	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	108;231;231;231;231	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	231	ENSP00000318212:A231V;ENSP00000396900:A231V	ENSP00000318212:A231V	A	+	2	0	0	KCNH6	58964995	58964995	1.000000	0.71417	0.442000	0.26870	0.033000	0.12548	7.601000	0.82783	2.158000	0.67659	0.313000	0.20887	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000	NM_030779			82	81		360	346	1		1	0		0	0	72	0		1	3.528697e-02	0	0	0	2	0	82	360
KCNH6	81033	broad.mit.edu	37	17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	399					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)			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)	TATGGGGCGGCTGTGCTCTTC	0.612																																						ENST00000583023.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1195-1197)gCt>gTt		potassium voltage-gated channel, subfamily H (eag-related), member 6	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						95.0	84.0	88.0					17																	61613124		2203	4300	6503	SO:0001583	missense	81033	0	0					g.chr17:61613124C>T	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.1196C>T	chr17.hg19:g.61613124C>T	ENSP00000463533:p.Ala399Val	0					KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	p.A399V	NM_030779.2	NP_110406.1	1	2	3	2.007770	Q9H252	KCNH6_HUMAN		6	1207	+			Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	1	1	hg19	c.1196C>T	CCDS11638.1	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789243	0.31685	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98531	-4.98;-4.98	4.36	4.36	0.52297	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.48174	1.505	0.80722	D	1	D;B;P;D;D	0.76494	0.995;0.41;0.76;0.974;0.999	D;P;P;D;D	0.78314	0.987;0.573;0.777;0.96;0.991	D	0.99869	1.1093	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	276;399;399;399;399	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	399	ENSP00000318212:A399V;ENSP00000396900:A399V	ENSP00000318212:A399V	A	+	2	0	0	KCNH6	58966856	58966856	1.000000	0.71417	0.206000	0.23566	0.167000	0.22549	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_030779			81	81		326	324	1		1			0	0	79	0		1	0	0	0	0	0	0	81	326
STRADA	92335	broad.mit.edu	37	17	61781025	61781025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000336174.6	-	13	1342	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000392950.4_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|LIMD2_ENST00000578402.1_5'Flank	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	410					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562																																						ENST00000336174.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(1228-1230)gaC>gaT		STE20-related kinase adaptor alpha							71.0	66.0	67.0					17																	61781025		2203	4300	6503	SO:0001819	synonymous_variant	92335	0	0					g.chr17:61781025G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1230C>T	chr17.hg19:g.61781025G>A		0					STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000447001.3_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_3'UTR|LIMD2_ENST00000578402.1_5'Flank|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D	p.D410D	NM_001003787.2	NP_001003787.1	1	2	3	2.007770	Q7RTN6	STRAA_HUMAN		13	1342	-			B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	1	1	hg19	c.1230C>T	CCDS32703.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				43	42		218	216	1		1	1		0	0	51	0		1	9.999995e-01	0	30	0	85	0	43	218
STRADA	92335	broad.mit.edu	37	17	61781939	61781939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000336174.6	-	11	974	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000392950.4_Silent_p.L251L|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_Silent_p.C172C|RP11-51F16.8_ENST00000580553.1_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612																																						ENST00000336174.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(862-864)Ctg>Ttg		STE20-related kinase adaptor alpha							39.0	41.0	40.0					17																	61781939		2203	4299	6502	SO:0001819	synonymous_variant	92335	0	0					g.chr17:61781939G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.862C>T	chr17.hg19:g.61781939G>A		0					STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_Silent_p.C172C|STRADA_ENST00000447001.3_Silent_p.L244L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Silent_p.L251L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000375840.4_Silent_p.L230L	p.L288L	NM_001003787.2	NP_001003787.1	1	2	3	2.007770	Q7RTN6	STRAA_HUMAN		11	974	-			B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	1	1	hg19	c.862C>T	CCDS32703.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				58	58		247	240	0		1	1		0	0	46	0		1	9.999946e-01	0	15	0	64	0	58	247
CCDC47	57003	broad.mit.edu	37	17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210					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)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438																																						ENST00000225726.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(628-630)tCt>tTt		coiled-coil domain containing 47							301.0	244.0	264.0					17																	61838630		2203	4300	6503	SO:0001583	missense	57003	0	0					g.chr17:61838630G>A	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.629C>T	chr17.hg19:g.61838630G>A	ENSP00000225726:p.Ser210Phe	0					CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	p.S210F	NM_020198.2	NP_064583.2	1	2	3	2.007770	Q96A33	CCD47_HUMAN		5	1011	-			B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	1	1	hg19	c.629C>T	CCDS11643.1	1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990571	0.54041	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.85013	0.0907	9	0.87932	D	0	-13.4833	18.8345	0.92155	0.0:0.0:1.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	F	210	.	ENSP00000225726:S210F	S	-	2	0	0	CCDC47	59192362	59192362	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.662000	0.98603	2.760000	0.94817	0.591000	0.81541	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	1	0	1		2	2	2	0		0	0	180		180	178	1	2.060000	-20.000000	1	0.170000	NM_020198			200	197		801	770	1		1	1		0	0	180	0		1	1	0	99	0	264	0	200	801
DDX42	11325	broad.mit.edu	37	17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443																																						ENST00000578681.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1714-1716)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box helicase 42							91.0	81.0	85.0					17																	61890627		2203	4300	6503	SO:0001583	missense	11325	0	0					g.chr17:61890627A>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1715A>C	chr17.hg19:g.61890627A>C	ENSP00000464050:p.Asn572Thr	0					DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T	p.N572T	NM_007372.2	NP_031398.2	1	2	3	2.007770	Q86XP3	DDX42_HUMAN		16	2316	+			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	1	1	hg19	c.1715A>C	CCDS32704.1	1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840372	0.91117	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05580	3.42;3.42	5.52	5.52	0.82312	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.35158	0.0922	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47368	-0.9123	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	T	572;572;308	ENSP00000374574:N572T;ENSP00000390121:N572T	ENSP00000352308:N308T	N	+	2	0	0	DDX42	59244359	59244359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_007372			59	56		230	227	1		1	1		0	0	54	0		1	1	0	51	0	146	0	59	230
PSMC5	5705	broad.mit.edu	37	17	61908896	61908896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61908896C>T	ENST00000310144.6	+	10	1308	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W|PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	334	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)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GATTCATTCTCGGAAGATGAA	0.547																																						ENST00000310144.6	1.000000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.298257	0.230000	0.210000																										0				20						c.(1000-1002)Cgg>Tgg		proteasome (prosome, macropain) 26S subunit, ATPase, 5							52.0	56.0	54.0					17																	61908896		2202	4298	6500	SO:0001583	missense	5705	0	0					g.chr17:61908896C>T	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.1000C>T	chr17.hg19:g.61908896C>T	ENSP00000310572:p.Arg334Trp	0					PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W	p.R334W	NM_002805.5	NP_002796.4	1	2	3	2.007770	P62195	PRS8_HUMAN		10	1308	+			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	0	1	hg19	c.1000C>T	CCDS11645.1	0	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891103	0.72524	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79653	-1.29;-1.29	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65773	0.923;0.938	D	0.92590	0.6082	10	0.87932	D	0	.	11.7681	0.51943	0.1752:0.8248:0.0:0.0	.	326;334	A8K3Z3;P62195	.;PRS8_HUMAN	W	334;326	ENSP00000310572:R334W;ENSP00000364970:R326W	ENSP00000310572:R334W	R	+	1	2	2	PSMC5	59262628	59262628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.084000	0.50143	2.861000	0.98227	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	0	0	0		2	2	2	0		0	0	104		104	103	1	2.060000	-2.841658	1	0.170000	NM_002805			9	8		486	471	0		1	1	0	0	0	104	9		9.933818e-01	9.997870e-01	6.931703e-02	15	0	893	21	9	486
SMARCD2	6603	broad.mit.edu	37	17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	463					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCCTGGGGGTCGGTGCTAAAA	0.547																																						ENST00000448276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1387-1389)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							109.0	110.0	109.0					17																	61910711		1977	4192	6169	SO:0001583	missense	6603	2	120938	32				g.chr17:61910711C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1387G>A	chr17.hg19:g.61910711C>T	ENSP00000392617:p.Asp463Asn	0					SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	p.D463N	NM_001098426.1	NP_001091896.1	1	2	3	2.007770	Q92925	SMRD2_HUMAN		11	1652	-			A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	1	1	hg19	c.1387G>A	CCDS45756.1	1	.	.	.	.	.	.	.	.	.	.	.	9.034	0.987974	0.18966	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.57752	0.38;0.44	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.278299	0.45867	D	0.000327	T	0.47967	0.1474	L	0.47078	1.49	0.40283	D	0.978414	B;B;B	0.17465	0.022;0.012;0.021	B;B;B	0.13407	0.004;0.006;0.009	T	0.35943	-0.9768	10	0.32370	T	0.25	-1.9548	16.7916	0.85590	0.0:1.0:0.0:0.0	.	415;426;463	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	463;405;426;415	ENSP00000392617:D463N;ENSP00000318451:D415N	ENSP00000225742:D405N	D	-	1	0	0	SMARCD2	59264443	59264443	0.532000	0.26346	0.983000	0.44433	0.004000	0.04260	0.995000	0.29706	2.833000	0.97629	0.650000	0.86243	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_001098426			64	64		321	316	1		1	1		0	0	77	0		1	1	0	86	0	299	0	64	321
SMARCD2	6603	broad.mit.edu	37	17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	446					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTTGATGGACTCAATGGT	0.552																																						ENST00000448276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1336-1338)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							131.0	132.0	131.0					17																	61910761		2062	4231	6293	SO:0001583	missense	6603	0	0					g.chr17:61910761G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1337C>T	chr17.hg19:g.61910761G>A	ENSP00000392617:p.Ser446Phe	0					SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	p.S446F	NM_001098426.1	NP_001091896.1	1	2	3	2.007770	Q92925	SMRD2_HUMAN		11	1602	-			A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	1	1	hg19	c.1337C>T	CCDS45756.1	1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874368	0.17395	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.46451	0.87;0.88	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.050846	0.85682	D	0.000000	T	0.44201	0.1282	M	0.62016	1.91	0.58432	D	0.999994	B;P;P	0.44521	0.386;0.837;0.837	B;B;B	0.39876	0.053;0.29;0.312	T	0.50642	-0.8804	10	0.72032	D	0.01	-0.0812	16.7916	0.85590	0.0:0.0:1.0:0.0	.	398;409;446	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	446;388;409;398	ENSP00000392617:S446F;ENSP00000318451:S398F	ENSP00000225742:S388F	S	-	2	0	0	SMARCD2	59264493	59264493	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.221000	0.72243	2.833000	0.97629	0.650000	0.86243	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	0	0	0		2	2	2	0		0	0	112		112	109	1	2.060000	-3.380427	1	0.170000	NM_001098426			90	90		384	378	1		1	1		0	0	112	0		1	1	0	96	0	264	0	90	384
CSHL1	1444	broad.mit.edu	37	17	61988202	61988202	+	Silent	SNP	G	G	T	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000309894.5	-	2	92	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000392824.4_Silent_p.P31P	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587																																						ENST00000309894.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(91-93)ccC>ccA		chorionic somatomammotropin hormone-like 1							57.0	61.0	60.0					17																	61988202		2203	4300	6503	SO:0001819	synonymous_variant	1444	0	0					g.chr17:61988202G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.93C>A	chr17.hg19:g.61988202G>T		0					CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000392824.4_Silent_p.P31P|CSHL1_ENST00000346606.6_Intron	p.P31P	NM_022579.1	NP_072101.1	1	2	3	2.013100	Q14406	CSHL_HUMAN		2	92	-			D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	1	1	hg19	c.93C>A	CCDS11652.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	1	0	1		2	2	2	0		0	0	103		103	107	1	2.060000	-2.774842	1	0.170000	NM_022579			94	88		517	510	1		1			0	0	103	0		1	0	0	0	0	0	0	94	517
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL																																	ENST00000006750.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000				Dom	yes			Dom	yes		17	17q23	17q23	974	Mis, O	"""CD79b molecule, immunoglobulin-associated beta"""				L	L			DLBCL		1	Substitution - coding silent(1)	p.S71S(1)	prostate(1)	15						c.(211-213)tcC>tcT		CD79b molecule, immunoglobulin-associated beta							96.0	83.0	88.0					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	974	1	121412	31				g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	chr17.hg19:g.62007651G>A		0					CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	p.S71S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	1	2	3	2.013100	P40259	CD79B_HUMAN		3	305	-			Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	1	1	hg19	c.213C>T	CCDS11655.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.626569	1	0.170000				34	33		202	196	1		1	0		0	0	61	0		1	9.806036e-01	0	1	0	39	0	34	202
SCN4A	6329	broad.mit.edu	37	17	62021184	62021185	+	Missense_Mutation	DNP	CG	CG	TA	rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184_62021185CG>TA	ENST00000435607.1	-	22	4014_4015	c.3938_3939CG>TA	c.(3937-3939)aCG>aTA	p.T1313I	SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC). {ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:18166706}.		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.T1313M(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)	TCTGTTCCTCCGTCATAAAGAT	0.554																																						ENST00000435607.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997|0.999839	0.990000	1.000000																										1	Substitution - Missense(1)	|p.T1313M(1)	large_intestine(1)	101	GRCh37	CM941270	SCN4A	M	rs121908547	c.(3937-3939)acG>acA|c.(3937-3939)aCg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)																																			SO:0001583	missense	6329	4|0	121266|0	33|				g.chr17:62021184C>T|g.chr17:62021185G>A	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.3938_3939delinsTA	chr17.hg19:g.62021184_62021185delinsTA	ENSP00000396320:p.Thr1313Ile	0					SCN4A_ENST00000578147.1_Silent_p.T1313T|SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313M	p.T1313T|p.T1313M	NM_000334.4	NP_000325.4	1	2	3	2.013100	P35499	SCN4A_HUMAN		22	4015|4014	-			Q15478|Q16447|Q7Z6B1	Silent|Missense_Mutation	SNP	ENST00000435607.1	1	1	hg19	c.3939G>A|c.3938C>T	CCDS45761.1	1																									|3.38	|3.38	|0.38709																																												|0			|59374917														1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.554	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-3.366364|-13.756420	1	0.170000	NM_000334			28|23	28|23		120|124	114|118	1		1			0	0	53	0		1|9.999995e-01	0	0	0	0	0	0	23	120
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	rs199713025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					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)			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)	CAGGGCCAGCGCTGCACGCAG	0.642																																						ENST00000435607.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				101						c.(3001-3003)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	G	CYS/ARG	7,4341		0,7,2167	30.0	33.0	32.0		3001	3.1	1.0	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG		0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense	6329	20	121250	41				g.chr17:62026114G>A	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.3001C>T	chr17.hg19:g.62026114G>A	ENSP00000396320:p.Arg1001Cys	0					SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	p.R1001C	NM_000334.4	NP_000325.4	1	2	3	2.013100	P35499	SCN4A_HUMAN		16	3077	-			Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	1	1	hg19	c.3001C>T	CCDS45761.1	1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	0	SCN4A	59379846	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-3.889956	1	0.170000	NM_000334			23	23		108	107	1		1	0		0	0	27	0		9.999996e-01	3.316750e-02	0	0	0	2	0	23	108
SCN4A	6329	broad.mit.edu	37	17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000435607.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	277					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)			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)	ACACTTCTGCCTCAGGTTTCC	0.547																																						ENST00000435607.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(829-831)aGg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)						133.0	137.0	135.0					17																	62045589		2179	4283	6462	SO:0001583	missense	6329	0	0					g.chr17:62045589C>A	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.830G>T	chr17.hg19:g.62045589C>A	ENSP00000396320:p.Arg277Met	0					SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	p.R277M	NM_000334.4	NP_000325.4	1	2	3	2.013100	P35499	SCN4A_HUMAN		6	906	-			Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	1	1	hg19	c.830G>T	CCDS45761.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562933	0.86335	.	.	ENSG00000007314	ENST00000435607	D	0.98732	-5.1	5.21	5.21	0.72293	5.21	5.21	0.72293	Ion transport (1);	0.055852	0.64402	D	0.000002	D	0.99354	0.9773	M	0.93720	3.45	0.49687	D	0.999815	D	0.89917	1.0	D	0.79108	0.992	D	0.98850	1.0758	10	0.54805	T	0.06	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	277	P35499	SCN4A_HUMAN	M	277	ENSP00000396320:R277M	ENSP00000396320:R277M	R	-	2	0	0	SCN4A	59399321	59399321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.717000	0.92951	0.655000	0.94253	AGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-4.050360	1	0.170000	NM_000334			108	106		387	380	1		1			0	0	95	0		1	0	0	0	0	0	0	108	387
ICAM2	3384	broad.mit.edu	37	17	62080179	62080179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000579788.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000581417.1_5'UTR|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000449662.2_Silent_p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	252					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622																																						ENST00000412356.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				6						c.(754-756)ttG>ttA		intercellular adhesion molecule 2							83.0	62.0	69.0					17																	62080179		2203	4300	6503	SO:0001819	synonymous_variant	3384	0	0					g.chr17:62080179C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.756G>A	chr17.hg19:g.62080179C>T		0					ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000418105.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000579687.1_Silent_p.L252L|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000581417.1_5'UTR	p.L252L	NM_001099786.1	NP_001093256.1	1	2	3	2.013100	P13598	ICAM2_HUMAN		6	1110	-			Q14600	Silent	SNP	ENST00000412356.1	1	1	hg19	c.756G>A	CCDS11657.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				30	30		151	148	0		1	1		0	0	26	0		1	1	0	117	0	277	0	30	151
ICAM2	3384	broad.mit.edu	37	17	62082714	62082714	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000449662.2_Silent_p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	27					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587																																						ENST00000412356.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(79-81)ttC>ttT		intercellular adhesion molecule 2							72.0	55.0	61.0					17																	62082714		2203	4300	6503	SO:0001819	synonymous_variant	3384	1	121412	29				g.chr17:62082714G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.81C>T	chr17.hg19:g.62082714G>A		0					ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR	p.F27F	NM_001099786.1	NP_001093256.1	1	2	3	2.013100	P13598	ICAM2_HUMAN		4	435	-			Q14600	Silent	SNP	ENST00000412356.1	1	1	hg19	c.81C>T	CCDS11657.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				38	37		186	178	1		1	1		0	0	55	0		1	1	0	104	0	230	0	38	186
ERN1	2081	broad.mit.edu	37	17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTGCAATGACGTCTTCTATA	0.438																																						ENST00000433197.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				9						c.(2407-2409)Gtc>Atc		endoplasmic reticulum to nucleus signaling 1							62.0	61.0	61.0					17																	62125340		1948	4144	6092	SO:0001583	missense	2081	0	0					g.chr17:62125340C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2407G>A	chr17.hg19:g.62125340C>T	ENSP00000401445:p.Val803Ile	0						p.V803I	NM_001433.3	NP_001424.3	1	2	3	2.013100				19	2502	-				Missense_Mutation	SNP	ENST00000433197.3	1	1	hg19	c.2407G>A	CCDS45762.1	1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623276	0.28889	.	.	ENSG00000178607	ENST00000433197	T	0.64803	-0.12	5.23	2.68	0.31781	5.23	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148489	0.49916	N	0.000123	T	0.40979	0.1139	N	0.21194	0.64	0.39713	D	0.971359	B	0.06786	0.001	B	0.11329	0.006	T	0.13388	-1.0511	10	0.15952	T	0.53	-25.2307	6.8144	0.23822	0.0:0.5913:0.0:0.4087	.	803	O75460	ERN1_HUMAN	I	803	ENSP00000401445:V803I	ENSP00000401445:V803I	V	-	1	0	0	ERN1	59479072	59479072	1.000000	0.71417	0.956000	0.39512	0.802000	0.45316	0.870000	0.28010	0.657000	0.30906	0.491000	0.48974	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_001433			26	26		110	109	1		1	1		0	0	23	0		1	9.808248e-01	0	2	0	28	0	26	110
ERN1	2081	broad.mit.edu	37	17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTACTCACAGGGTTCTCCTTA	0.542																																						ENST00000433197.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				9						c.(2251-2253)Cct>Tct		endoplasmic reticulum to nucleus signaling 1							60.0	58.0	58.0					17																	62130142		1930	4138	6068	SO:0001583	missense	2081	0	0					g.chr17:62130142G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2251C>T	chr17.hg19:g.62130142G>A	ENSP00000401445:p.Pro751Ser	0						p.P751S	NM_001433.3	NP_001424.3	1	2	3	2.013100				17	2346	-				Missense_Mutation	SNP	ENST00000433197.3	1	1	hg19	c.2251C>T	CCDS45762.1	1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371479	0.61624	.	.	ENSG00000178607	ENST00000433197	T	0.48836	0.8	5.49	5.49	0.81192	5.49	5.49	0.81192	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	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	B	0.21071	0.051	B	0.29716	0.106	T	0.14504	-1.0470	10	0.21540	T	0.41	-16.6814	19.3787	0.94523	0.0:0.0:1.0:0.0	.	751	O75460	ERN1_HUMAN	S	751	ENSP00000401445:P751S	ENSP00000401445:P751S	P	-	1	0	0	ERN1	59483874	59483874	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	9.286000	0.95898	2.588000	0.87417	0.205000	0.17691	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.298109	1	0.170000	NM_001433			30	30		148	145	1		1	0		0	0	39	0		1	9.851828e-01	0	1	0	35	0	30	148
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.3	-	12	1309	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTCAACCAGGTTGATAACCTT	0.552																																						ENST00000433197.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				9						c.(1213-1215)aAc>aGc		endoplasmic reticulum to nucleus signaling 1							41.0	44.0	43.0					17																	62135346		2019	4170	6189	SO:0001583	missense	2081	1	120210	22				g.chr17:62135346T>C	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1214A>G	chr17.hg19:g.62135346T>C	ENSP00000401445:p.Asn405Ser	0						p.N405S	NM_001433.3	NP_001424.3	1	2	3	2.013100				12	1309	-				Missense_Mutation	SNP	ENST00000433197.3	0	1	hg19	c.1214A>G	CCDS45762.1	1	.	.	.	.	.	.	.	.	.	.	T	4.678	0.126002	0.08931	.	.	ENSG00000178607	ENST00000433197	T	0.58652	0.32	5.37	4.29	0.51040	5.37	4.29	0.51040	.	0.969624	0.08586	N	0.923812	T	0.41166	0.1147	L	0.27053	0.805	0.27736	N	0.944656	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	10	0.07644	T	0.81	-17.115	8.4424	0.32822	0.0:0.1505:0.0:0.8495	.	405	O75460	ERN1_HUMAN	S	405	ENSP00000401445:N405S	ENSP00000401445:N405S	N	-	2	0	0	ERN1	59489078	59489078	0.991000	0.36638	0.995000	0.50966	0.615000	0.37417	0.906000	0.28517	0.878000	0.35920	-0.379000	0.06801	AAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_001433			14	12		33	31	1		1	1		0	0	11	0		9.998109e-01	9.954387e-01	0	2	0	24	0	14	33
TEX2	55852	broad.mit.edu	37	17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T	rs532625988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000583097.1	-	5	2406	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	TEX2_ENST00000258991.3_Missense_Mutation_p.R752H|TEX2_ENST00000584379.1_Missense_Mutation_p.R745H			Q8IWB9	TEX2_HUMAN	testis expressed 2	745					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTGCTGCTGCGGCTGTGGGT	0.577																																						ENST00000583097.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2233-2235)cGc>cAc		testis expressed 2							82.0	68.0	73.0					17																	62265718		2203	4300	6503	SO:0001583	missense	55852	0	0					g.chr17:62265718C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2234G>A	chr17.hg19:g.62265718C>T	ENSP00000462665:p.Arg745His	0					TEX2_ENST00000258991.3_Missense_Mutation_p.R752H|TEX2_ENST00000584379.1_Missense_Mutation_p.R745H	p.R745H			1	2	3	2.013100	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	5	2406	-			Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	1	1	hg19	c.2234G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521129	0.64747	.	.	ENSG00000136478	ENST00000258991	T	0.48836	0.8	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.100985	0.64402	D	0.000002	T	0.52158	0.1717	M	0.76574	2.34	0.80722	D	1	P;P	0.44578	0.838;0.75	B;B	0.37387	0.248;0.126	T	0.61103	-0.7130	10	0.72032	D	0.01	-13.9632	20.2405	0.98372	0.0:1.0:0.0:0.0	.	752;745	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	H	752	ENSP00000258991:R752H	ENSP00000258991:R752H	R	-	2	0	0	TEX2	59619450	59619450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.797000	0.96272	0.561000	0.74099	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1		2	2	2	0		0	0	68		68	65	1	2.060000	-3.318060	1	0.170000	NM_018469			75	75		336	327	1		1	1		0	0	68	0		1	9.999999e-01	0	25	0	85	0	75	336
TEX2	55852	broad.mit.edu	37	17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000583097.1	-	2	1733	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000258991.3_Missense_Mutation_p.A521T|TEX2_ENST00000584379.1_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2	521					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TATTTATGAGCACTTGGTGGT	0.458																																						ENST00000583097.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1561-1563)Gct>Act		testis expressed 2							161.0	158.0	159.0					17																	62290017		2203	4300	6503	SO:0001583	missense	55852	0	0					g.chr17:62290017C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1561G>A	chr17.hg19:g.62290017C>T	ENSP00000462665:p.Ala521Thr	0					TEX2_ENST00000258991.3_Missense_Mutation_p.A521T|TEX2_ENST00000584379.1_Missense_Mutation_p.A521T	p.A521T			1	2	3	2.013100	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	2	1733	-			Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	1	1	hg19	c.1561G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476242	0.26511	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.176192	0.50627	D	0.000104	T	0.33933	0.0880	L	0.56769	1.78	0.32707	N	0.512139	B;B	0.19331	0.035;0.02	B;B	0.19666	0.026;0.007	T	0.38478	-0.9659	10	0.02654	T	1	-15.5616	9.9759	0.41783	0.0:0.7834:0.1404:0.0761	.	521;521	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	T	521	ENSP00000258991:A521T	ENSP00000258991:A521T	A	-	1	0	0	TEX2	59643749	59643749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	2.941000	0.99782	0.655000	0.94253	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_018469			160	157		616	602	1		1	1		0	0	144	0		1	9.999834e-01	0	8	0	54	0	160	616
TEX2	55852	broad.mit.edu	37	17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000583097.1	-	2	1321	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000258991.3_Missense_Mutation_p.K383N|TEX2_ENST00000584379.1_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2	383					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGGAACTTTTCAGTTCTA	0.478																																						ENST00000583097.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1147-1149)aaA>aaC		testis expressed 2							64.0	66.0	65.0					17																	62290429		2203	4300	6503	SO:0001583	missense	55852	0	0					g.chr17:62290429T>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1149A>C	chr17.hg19:g.62290429T>G	ENSP00000462665:p.Lys383Asn	0					TEX2_ENST00000258991.3_Missense_Mutation_p.K383N|TEX2_ENST00000584379.1_Missense_Mutation_p.K383N	p.K383N			1	2	3	2.013100	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	2	1321	-			Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	1	1	hg19	c.1149A>C		1	.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685572	0.03328	.	.	ENSG00000136478	ENST00000258991	T	0.47528	0.84	6.17	-6.78	0.01721	6.17	-6.78	0.01721	.	0.567277	0.19790	N	0.106011	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B;B	0.28605	0.217;0.138	B;B	0.26094	0.066;0.03	T	0.01945	-1.1242	10	0.42905	T	0.14	-7.3674	17.5523	0.87880	0.0:0.6324:0.0:0.3676	.	383;383	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	383	ENSP00000258991:K383N	ENSP00000258991:K383N	K	-	3	2	2	TEX2	59644161	59644161	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.499000	0.06413	-1.204000	0.02648	-0.274000	0.10170	AAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_018469			87	86		426	418	1		1	1		0	0	79	0		1	9.999520e-01	0	12	0	60	0	87	426
TEX2	55852	broad.mit.edu	37	17	62291232	62291232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62291232G>A	ENST00000583097.1	-	2	518	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	TEX2_ENST00000258991.3_Silent_p.L116L|TEX2_ENST00000584379.1_Silent_p.L116L			Q8IWB9	TEX2_HUMAN	testis expressed 2	116					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GACTCCAACAGCTTTACAGTG	0.607																																						ENST00000583097.1	1.000000	0.220000	4.600000e-01	2.800000e-01	0.350000	0.415289	0.350000	0.340000																										0				41						c.(346-348)Ctg>Ttg		testis expressed 2							87.0	93.0	91.0					17																	62291232		2203	4300	6503	SO:0001819	synonymous_variant	55852	0	0					g.chr17:62291232G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.346C>T	chr17.hg19:g.62291232G>A		0					TEX2_ENST00000258991.3_Silent_p.L116L|TEX2_ENST00000584379.1_Silent_p.L116L	p.L116L			1	2	3	2.013100	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	2	518	-			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	1	1	hg19	c.346C>T		0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.617523	1	0.170000	NM_018469			24	24		798	783	0		1	0		0	0	131	0		9.999996e-01	5.209762e-01	0	1	0	57	0	24	798
DDX5	1655	broad.mit.edu	37	17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000225792.5	-	13	1889	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	496	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGCAGAGTATCTGTCCCGAC	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q21	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5				E	E	ETV4		prostate		0				19						c.(1486-1488)agA>agC		DEAD (Asp-Glu-Ala-Asp) box helicase 5							88.0	90.0	90.0					17																	62496398		2203	4300	6503	SO:0001583	missense	1655	0	0					g.chr17:62496398T>G	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1488A>C	chr17.hg19:g.62496398T>G	ENSP00000225792:p.Arg496Ser	0					DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR	p.R496S	NM_004396.3	NP_004387.1	1	2	3	2.013100	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)	13	1889	-	Breast(5;2.15e-14)		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	1	1	hg19	c.1488A>C	CCDS11659.1	1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478558	0.12521	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.097898	0.64402	D	0.000001	T	0.47655	0.1457	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32781	0.158;0.384;0.384	B;B;B	0.28305	0.018;0.088;0.088	T	0.47005	-0.9150	9	0.36615	T	0.2	-11.659	10.9731	0.47450	0.1394:0.0:0.0:0.8606	.	417;496;496	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	496;426;485	.	ENSP00000225792:R485S	R	-	3	2	2	DDX5	59926860	59926860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.190000	0.69967	0.482000	0.46254	AGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_004396			143	142		532	519	1		1	1		0	0	123	0		1	1	0	480	0	1497	0	143	532
DDX5	1655	broad.mit.edu	37	17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000225792.5	-	8	1311	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	304					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTTCAAGTGCACCAATGTTT	0.373			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17q21	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5				E	E	ETV4		prostate		0				19						c.(910-912)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box helicase 5							132.0	128.0	129.0					17																	62499117		2203	4300	6503	SO:0001583	missense	1655	0	0					g.chr17:62499117C>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.910G>T	chr17.hg19:g.62499117C>A	ENSP00000225792:p.Ala304Ser	0					DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank	p.A304S	NM_004396.3	NP_004387.1	1	2	3	2.013100	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)	8	1311	-	Breast(5;2.15e-14)		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	1	1	hg19	c.910G>T	CCDS11659.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178353	0.57692	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.002;0.002;0.002	T	0.41592	-0.9500	9	0.02654	T	1	-10.9695	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;304;293;304	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	S	304;234;293	.	ENSP00000225792:A293S	A	-	1	0	0	DDX5	59929579	59929579	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.300000	0.78841	2.793000	0.96121	0.655000	0.94253	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_004396			121	116		490	482	1		1	1		0	0	125	0		1	1	0	267	0	765	0	121	490
LRRC37A3	374819	broad.mit.edu	37	17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1107						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTCTAGCTGCTCACTCCCA	0.463																																						ENST00000584306.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(3319-3321)Cag>Tag		leucine rich repeat containing 37, member A3							277.0	280.0	279.0					17																	62856945		2203	4300	6503	SO:0001587	stop_gained	374819	0	0					g.chr17:62856945G>A	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.3319C>T	chr17.hg19:g.62856945G>A	ENSP00000464535:p.Gln1107*	0					LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*	p.Q1107*	NM_199340.2	NP_955372.2	1	2	3	2.013100	O60309	L37A3_HUMAN		11	3849	-			Q49A01|Q49A80|Q8NB33	Nonsense_Mutation	SNP	ENST00000584306.1	0	1	hg19	c.3319C>T	CCDS32708.1	1	.	.	.	.	.	.	.	.	.	.	.	40	8.010885	0.98607	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.0936	0.14477	2.46	0.0936	0.14477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.8545	0.05568	0.1715:0.0:0.544:0.2844	.	.	.	.	X	188;145;84;1107	.	ENSP00000325713:Q1107X	Q	-	1	0	0	LRRC37A3	60287407	60287407	0.008000	0.16893	0.003000	0.11579	0.190000	0.23558	0.579000	0.23788	-0.078000	0.12730	0.298000	0.19748	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	1	0	1		2	2	2	0		0	0	408		408	416	1	2.060000	-20.000000	1	0.170000	NM_199340			238	226		1268	1223	0		1	0		0	0	408	0		1	1.808577e-01	0	0	0	5	0	238	1268
GNA13	10672	broad.mit.edu	37	17	63010504	63010504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000439174.2	-	4	1250	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_ENST00000541118.1_Silent_p.R240R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	335					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGGTCCCGGCGTTTGT	0.473																																						ENST00000439174.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998896	0.990000	1.000000																										0				34						c.(1003-1005)cgG>cgA		guanine nucleotide binding protein (G protein), alpha 13							131.0	108.0	116.0					17																	63010504		2203	4300	6503	SO:0001819	synonymous_variant	10672	0	0					g.chr17:63010504C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1005G>A	chr17.hg19:g.63010504C>T		0					GNA13_ENST00000541118.1_Silent_p.R240R	p.R335R	NM_006572.4	NP_006563.2	1	2	3	2.013100	Q14344	GNA13_HUMAN		4	1250	-			B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	1	1	hg19	c.1005G>A	CCDS11661.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	0	0	1		19	13	2	1		1	1	69		69	67	1	2.060000	-2.966613	1	0.170000	NM_006572			44	44		342	339	1		1	1		1	0	69	0		9.996862e-01	9.984403e-01	0	26	0	228	0	44	342
AIPL1	23746	broad.mit.edu	37	17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	81	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592																																						ENST00000381129.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998817	0.990000	1.000000																										0				12						c.(241-243)Gtg>Atg		aryl hydrocarbon receptor interacting protein-like 1							126.0	90.0	102.0					17																	6337274		2203	4300	6503	SO:0001583	missense	23746	0	0					g.chr17:6337274C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.241G>A	chr17.hg19:g.6337274C>T	ENSP00000370521:p.Val81Met	0					AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M	p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	1	2	3	2.017774	Q9NZN9	AIPL1_HUMAN		2	321	-			D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	1	1	hg19	c.241G>A	CCDS11075.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735304	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.87887	-2.31;-2.31	5.05	-10.1	0.00402	5.05	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.341267	0.28821	N	0.014031	D	0.82697	0.5093	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.50369	0.934;0.823;0.627;0.933;0.91	P;P;B;P;P	0.53593	0.73;0.458;0.255;0.668;0.583	T	0.74910	-0.3503	10	0.46703	T	0.11	-8.5843	5.4559	0.16590	0.0902:0.1015:0.5139:0.2944	.	81;59;81;81;81	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	81	ENSP00000370521:V81M;ENSP00000250087:V81M	ENSP00000250087:V81M	V	-	1	0	0	AIPL1	6277998	6277998	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.414000	0.07114	-1.781000	0.01277	-0.219000	0.12488	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_014336			21	20		134	130	1		1			0	0	23	0		9.999979e-01	0	0	0	0	0	0	21	134
FAM64A	54478	broad.mit.edu	37	17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000250056.8	+	2	372	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	97					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547																																						ENST00000250056.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(289-291)Tcc>Ccc		family with sequence similarity 64, member A							52.0	58.0	56.0					17																	6348719		2203	4300	6503	SO:0001583	missense	54478	0	0					g.chr17:6348719T>C		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.289T>C	chr17.hg19:g.6348719T>C	ENSP00000250056:p.Ser97Pro	0					FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	p.S97P	NM_001195228.1	NP_001182157.1	1	2	3	2.017774	Q9BSJ6	FA64A_HUMAN		2	372	+			Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	1	1	hg19	c.289T>C	CCDS56016.1	1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552859	0.45487	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	4.75	3.6	0.41247	4.75	3.6	0.41247	.	0.080661	0.51477	D	0.000096	T	0.67468	0.2896	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.943	T	0.70107	-0.4963	10	0.87932	D	0	-22.6153	8.0664	0.30663	0.0:0.0:0.2059:0.7941	.	97;97	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	97	ENSP00000250056:S97P	ENSP00000250056:S97P	S	+	1	0	0	FAM64A	6289443	6289443	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	2.234000	0.43035	2.143000	0.66587	0.533000	0.62120	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_019013			65	65		286	280	1		1	1		0	0	55	0		1	8.231968e-01	0	3	0	13	0	65	286
RGS9	8787	broad.mit.edu	37	17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000262406.9	+	16	1342	c.1275A>C	c.(1273-1275)gaA>gaC	p.E425D	RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000449996.3_Missense_Mutation_p.E422D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	425					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)			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						AACCTCAGGAAACCACCAAGA	0.413																																						ENST00000262406.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1273-1275)gaA>gaC		regulator of G-protein signaling 9							95.0	84.0	87.0					17																	63204111		1866	4093	5959	SO:0001583	missense	8787	0	0					g.chr17:63204111A>C	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.1275A>C	chr17.hg19:g.63204111A>C	ENSP00000262406:p.Glu425Asp	0					RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000449996.3_Missense_Mutation_p.E422D	p.E425D	NM_003835.3	NP_003826.2	1	2	3	2.013100	O75916	RGS9_HUMAN		16	1342	+			A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	1	1	hg19	c.1275A>C	CCDS42373.1	1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464595	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34275	1.38;1.37	5.34	-1.13	0.09775	5.34	-1.13	0.09775	.	0.337709	0.34507	N	0.003904	T	0.31702	0.0805	L	0.55481	1.735	0.27741	N	0.944487	B;B;B	0.31548	0.258;0.22;0.328	B;B;B	0.33196	0.159;0.1;0.132	T	0.33369	-0.9871	10	0.52906	T	0.07	.	12.3179	0.54969	0.4618:0.0:0.5382:0.0	.	425;425;422	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	425;422	ENSP00000262406:E425D;ENSP00000396329:E422D	ENSP00000262406:E425D	E	+	3	2	2	RGS9	60634573	60634573	0.993000	0.37304	0.987000	0.45799	0.738000	0.42128	1.044000	0.30329	-0.097000	0.12307	-0.250000	0.11733	GAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_003835			54	52		228	222	1		1	0		0	0	53	0		1	4.760894e-01	0	0	0	8	0	54	228
RPH3AL	9501	broad.mit.edu	37	17	63652	63652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000331302.7	-	10	1246	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000323434.8_Silent_p.C284C	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	313					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632																																						ENST00000331302.7			0	0																														0				6						c.(937-939)tgC>tgT		rabphilin 3A-like (without C2 domains)							21.0	26.0	24.0					17																	63652		2203	4299	6502	SO:0001819	synonymous_variant	9501	0	0					g.chr17:63652G>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.939C>T	chr17.hg19:g.63652G>A							RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000323434.8_Silent_p.C284C|RPH3AL_ENST00000576001.1_5'Flank	p.C313C	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1					Q9UNE2	RPH3L_HUMAN		10	1246	-			D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	1	1	hg19	c.939C>T	CCDS10994.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.632	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_006987			26	25		158	155	1		1	1		0	0	30	0		9.999999e-01	6.859755e-01	0	2	0	14	0	26	158
PITPNM3	83394	broad.mit.edu	37	17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	825					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642																																						ENST00000262483.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2473-2475)cGc>cAc		PITPNM family member 3		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92.0	81.0	85.0		2366,2474	4.6	1.0	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	789/939,825/975	6364709	1,13005	2203	4300	6503	SO:0001583	missense	83394	2	121412	37				g.chr17:6364709C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2474G>A	chr17.hg19:g.6364709C>T	ENSP00000262483:p.Arg825His	0					PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H	p.R825H	NM_031220.3	NP_112497.2	1	2	3	2.017774	Q9BZ71	PITM3_HUMAN		18	2561	-			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	1	1	hg19	c.2474G>A	CCDS11076.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802640	0.70682	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76709	-1.04;-1.04	4.61	4.61	0.57282	4.61	4.61	0.57282	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.50333	1.59	0.46356	D	0.999002	B;D	0.71674	0.33;0.998	B;D	0.63033	0.143;0.91	D	0.85338	0.1094	10	0.72032	D	0.01	.	15.3014	0.73955	0.0:1.0:0.0:0.0	.	789;825	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	825;789	ENSP00000262483:R825H;ENSP00000407882:R789H	ENSP00000262483:R825H	R	-	2	0	0	PITPNM3	6305433	6305433	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	1.527000	0.35975	2.293000	0.77203	0.462000	0.41574	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	1		18	2	2	1		1	1	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_031220			98	96		379	376	0		1	1		1	0	92	0		1	7.400464e-01	0	6	0	6	0	98	379
PITPNM3	83394	broad.mit.edu	37	17	6376098	6376098	+	Silent	SNP	G	G	A	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.C400C	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	436	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632																																						ENST00000262483.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1306-1308)tgC>tgT		PITPNM family member 3		G	,	1,4405	2.1+/-5.4	0,1,2202	61.0	60.0	60.0		1200,1308	-10.2	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	400/939,436/975	6376098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83394	2	121400	37				g.chr17:6376098G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1308C>T	chr17.hg19:g.6376098G>A		0					PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.C400C	p.C436C	NM_031220.3	NP_112497.2	1	2	3	2.017774	Q9BZ71	PITM3_HUMAN		11	1395	-			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	1	1	hg19	c.1308C>T	CCDS11076.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	1		2	2	2	0		0	0	57		57	53	1	2.060000	-20.000000	1	0.170000	NM_031220			49	47		188	181	1		1	1		0	0	57	0		1	8.448210e-01	0	6	0	9	0	49	188
PITPNM3	83394	broad.mit.edu	37	17	6387061	6387061	+	Silent	SNP	C	C	T	rs375235477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	121					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637																																						ENST00000262483.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(361-363)ccG>ccA		PITPNM family member 3		C	,	1,4405	2.1+/-5.4	0,1,2202	50.0	48.0	49.0		255,363	-10.3	0.1	17		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	85/939,121/975	6387061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83394	5	121412	38				g.chr17:6387061C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.363G>A	chr17.hg19:g.6387061C>T		0					PITPNM3_ENST00000421306.3_Silent_p.P85P	p.P121P	NM_031220.3	NP_112497.2	1	2	3	2.017774	Q9BZ71	PITM3_HUMAN		6	450	-			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	1	1	hg19	c.363G>A	CCDS11076.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_031220			75	75		287	284	1		1	1		0	0	68	0		1	9.476802e-01	0	9	0	12	0	75	287
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	ENST00000375702.5	-	5	1333	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_ENST00000307078.5_Missense_Mutation_p.L409I			Q9Y2T1	AXIN2_HUMAN	axin 2	409	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			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						TTGAGTGTGAGCTCGGAGCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000375702.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998493	0.990000	1.000000																										0				34						c.(1225-1227)Ctc>Atc		axin 2							11.0	14.0	13.0					17																	63533929		2188	4279	6467	SO:0001583	missense	8313	0	0		Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	g.chr17:63533929G>T	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.1225C>A	chr17.hg19:g.63533929G>T	ENSP00000364854:p.Leu409Ile	0					AXIN2_ENST00000307078.5_Missense_Mutation_p.L409I	p.L409I			1	2	3	2.013100	Q9Y2T1	AXIN2_HUMAN		5	1333	-			Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	0	1	hg19	c.1225C>A		1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.354380	0.01256	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83914	-1.78;-1.78	5.2	3.0	0.34707	5.2	3.0	0.34707	.	1.043520	0.07559	N	0.916760	T	0.62368	0.2422	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.52139	-0.8615	10	0.14656	T	0.56	-0.7102	2.2886	0.04133	0.2055:0.1489:0.4932:0.1523	.	409;409	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	I	409	ENSP00000302625:L409I;ENSP00000364854:L409I	ENSP00000302625:L409I	L	-	1	0	0	AXIN2	60964391	60964391	0.946000	0.32159	0.453000	0.27007	0.032000	0.12392	1.091000	0.30915	1.201000	0.43203	0.650000	0.86243	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.955490	1	0.170000	NM_004655			11	11		50	49	0		1	1		0	0	8	0		9.987443e-01	9.977291e-01	0	7	0	47	0	11	50
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	C	T	rs367862167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A179A(1)	large_intestine(1)	17						c.(535-537)gcG>gcA		apolipoprotein H (beta-2-glycoprotein I)		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	SO:0001819	synonymous_variant	350	2	121412	34				g.chr17:64216739C>T		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	chr17.hg19:g.64216739C>T		0						p.A179A	NM_000042.2	NP_000033.2	1	2	3	2.013100	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)	5	574	-			B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	1	1	hg19	c.537G>A	CCDS11663.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-3.064870	1	0.170000	NM_000042			70	70		332	325	1		1	1		0	0	87	0		1	7.288149e-01	0	2	0	12	0	70	332
FAM57A	79850	broad.mit.edu	37	17	644642	644642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000308278.8	+	5	842	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_ENST00000301324.8_Silent_p.S170S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	202	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542																																						ENST00000308278.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(604-606)tcC>tcT		family with sequence similarity 57, member A							141.0	116.0	124.0					17																	644642		2203	4300	6503	SO:0001819	synonymous_variant	79850	0	0					g.chr17:644642C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.606C>T	chr17.hg19:g.644642C>T		0					FAM57A_ENST00000301324.8_Silent_p.S170S	p.S202S	NM_024792.1	NP_079068.1	1	2	3	2.017774	Q8TBR7	FA57A_HUMAN		5	842	+			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	1	1	hg19	c.606C>T	CCDS10996.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	1	0	1		15	2	2	0		0	1	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_024792			78	75		290	282	1		1	1		0	0	86	0		1	1	0	87	0	140	0	78	290
GEMIN4	50628	broad.mit.edu	37	17	648153	648153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000319004.5	-	2	3248	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.P1033S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1044					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577																																						ENST00000319004.5	1.000000	0.510000	1	7.100000e-01	0.970000	0.888872	0.970000	1.000000																										0				22						c.(3130-3132)Cct>Tct		gem (nuclear organelle) associated protein 4							42.0	42.0	42.0					17																	648153		1994	4163	6157	SO:0001583	missense	50628	0	0					g.chr17:648153G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.3130C>T	chr17.hg19:g.648153G>A	ENSP00000321706:p.Pro1044Ser	0					GEMIN4_ENST00000576778.1_Missense_Mutation_p.P1033S	p.P1044S	NM_015721.2	NP_056536.2	1	2	3	2.017774	P57678	GEMI4_HUMAN		2	3248	-		Myeloproliferative disorder(207;0.204)	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	1	1	hg19	c.3130C>T	CCDS45559.1	1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647231	0.14516	.	.	ENSG00000179409	ENST00000319004	T	0.05382	3.45	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.384630	0.28476	N	0.015215	T	0.13286	0.0322	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.51516	0.672	T	0.07271	-1.0781	10	0.20519	T	0.43	-13.8527	14.6388	0.68708	0.0:0.2571:0.7429:0.0	.	1044	P57678	GEMI4_HUMAN	S	1044	ENSP00000321706:P1044S	ENSP00000321706:P1044S	P	-	1	0	0	GEMIN4	594903	594903	0.893000	0.30496	0.996000	0.52242	0.073000	0.16967	1.509000	0.35780	2.709000	0.92574	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-16.111110	1	0.170000	NM_015721			11	11		130	129	1		1	1		0	0	26	0		9.984277e-01	9.974271e-01	0	21	0	107	0	11	130
APOH	350	broad.mit.edu	37	17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	91	Sushi 2. {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)			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)			GCTCCATTTTCTAAGATTCCA	0.343																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(271-273)Gaa>Aaa		apolipoprotein H (beta-2-glycoprotein I)							100.0	92.0	95.0					17																	64222213		2203	4300	6503	SO:0001583	missense	350	0	0					g.chr17:64222213C>T		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.271G>A	chr17.hg19:g.64222213C>T	ENSP00000205948:p.Glu91Lys	0						p.E91K	NM_000042.2	NP_000033.2	1	2	3	2.013100	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)	3	308	-			B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	1	1	hg19	c.271G>A	CCDS11663.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307477	0.40795	.	.	ENSG00000091583	ENST00000205948	T	0.63255	-0.03	5.55	3.51	0.40186	5.55	3.51	0.40186	Complement control module (2);Sushi/SCR/CCP (3);	0.557452	0.20002	N	0.101316	T	0.50309	0.1608	M	0.64997	1.995	0.31164	N	0.704006	B	0.32338	0.365	B	0.30105	0.111	T	0.49588	-0.8924	10	0.06625	T	0.88	.	7.9847	0.30205	0.0:0.7538:0.16:0.0863	.	91	P02749	APOH_HUMAN	K	91	ENSP00000205948:E91K	ENSP00000205948:E91K	E	-	1	0	0	APOH	61652675	61652675	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.675000	0.31264	0.563000	0.77884	GAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_000042			42	40		206	200	1		1	0		0	0	43	0		1	7.139360e-01	0	1	0	13	0	42	206
GEMIN4	50628	broad.mit.edu	37	17	650235	650235	+	Missense_Mutation	SNP	C	C	T	rs373067107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000319004.5	-	2	1166	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	350					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637																																						ENST00000319004.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1048-1050)Gac>Aac		gem (nuclear organelle) associated protein 4		C	ASN/ASP	2,4246		0,2,2122	64.0	69.0	67.0		1048	5.0	1.0	17		67	0,8454		0,0,4227	no	missense	GEMIN4	NM_015721.2	23	0,2,6349	TT,TC,CC		0.0,0.0471,0.0157	probably-damaging	350/1059	650235	2,12700	2124	4227	6351	SO:0001583	missense	50628	7	121088	41				g.chr17:650235C>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1048G>A	chr17.hg19:g.650235C>T	ENSP00000321706:p.Asp350Asn	0					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N	p.D350N	NM_015721.2	NP_056536.2	1	2	3	2.017774	P57678	GEMI4_HUMAN		2	1166	-		Myeloproliferative disorder(207;0.204)	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	1	1	hg19	c.1048G>A	CCDS45559.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769060	0.31320	4.71E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17854	2.25	5.95	4.99	0.66335	5.95	4.99	0.66335	.	0.163861	0.53938	D	0.000060	T	0.19127	0.0459	M	0.64997	1.995	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.02758	-1.1114	10	0.45353	T	0.12	-22.2074	9.6685	0.39998	0.0:0.7851:0.1413:0.0736	.	350	P57678	GEMI4_HUMAN	N	350	ENSP00000321706:D350N	ENSP00000321706:D350N	D	-	1	0	0	GEMIN4	596985	596985	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.408000	0.44574	1.527000	0.49086	0.563000	0.77884	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-3.309576	1	0.170000	NM_015721			96	94		427	419	1		1	1		0	0	107	0		1	9.999674e-01	0	15	0	53	0	96	427
CACNG5	27091	broad.mit.edu	37	17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCTTCACCCTGCTGAGCCTC	0.632																																						ENST00000533854.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(823-825)Tgc>Cgc		calcium channel, voltage-dependent, gamma subunit 5							58.0	49.0	52.0					17																	64881352		2200	4293	6493	SO:0001583	missense	27091	0	0					g.chr17:64881352T>C	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.823T>C	chr17.hg19:g.64881352T>C	ENSP00000436836:p.Cys275Arg	0					CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R	p.C275R			1	2	3	2.013100	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)	6	1060	+			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	1	1	hg19	c.823T>C	CCDS11665.1	1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729119	0.69074	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.55413	0.52;0.52	3.27	3.27	0.37495	3.27	3.27	0.37495	.	.	.	.	.	T	0.35682	0.0940	N	0.19112	0.55	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.41963	-0.9479	9	0.87932	D	0	.	11.8613	0.52467	0.0:0.0:0.0:1.0	.	275	Q9UF02	CCG5_HUMAN	R	275	ENSP00000436836:C275R;ENSP00000303092:C275R	ENSP00000303092:C275R	C	+	1	0	0	CACNG5	62311814	62311814	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.114000	0.77103	1.744000	0.51775	0.491000	0.48974	TGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_014404, NM_145811			66	65		328	323	1		1	0		0	0	62	0		1	0	0	0	0	1	0	66	328
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A	rs377684890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization (GO:0051899)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542																																						ENST00000262138.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A224A(1)	prostate(1)	19						c.(670-672)gcG>gcA		calcium channel, voltage-dependent, gamma subunit 4		G		0,4406		0,0,2203	81.0	84.0	83.0		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27092	4	121412	39				g.chr17:65026808G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	chr17.hg19:g.65026808G>A		0					AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	p.A224A	NM_014405.3	NP_055220.1	1	2	3	2.013100	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)	4	674	+	all_cancers(12;9.86e-11)		B2RCK0	Silent	SNP	ENST00000262138.3	1	1	hg19	c.672G>A	CCDS11667.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_014405			104	104		567	561	1		1			0	0	91	0		1	0	0	0	0	0	0	104	567
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000319004.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(751-753)gCg>gTg		gem (nuclear organelle) associated protein 4							87.0	95.0	92.0					17																	650531		2176	4267	6443	SO:0001583	missense	50628	2	121286	38				g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	chr17.hg19:g.650531G>A	ENSP00000321706:p.Ala251Val	0					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V	p.A251V	NM_015721.2	NP_056536.2	1	2	3	2.017774	P57678	GEMI4_HUMAN		2	870	-		Myeloproliferative disorder(207;0.204)	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	1	1	hg19	c.752C>T	CCDS45559.1	1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	0	GEMIN4	597281	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	0		2	2	2	0		0	0	135		135	134	1	2.060000	-3.188625	1	0.170000	NM_015721			118	116		511	498	1		1	1		0	0	135	0		1	9.999934e-01	0	20	0	55	0	118	511
GEMIN4	50628	broad.mit.edu	37	17	650572	650572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000319004.5	-	2	829	c.711C>T	c.(709-711)tgC>tgT	p.C237C	GEMIN4_ENST00000576778.1_Silent_p.C226C|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	237					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAGCGCACAGCACTTCCTCC	0.637																																						ENST00000319004.5	1.000000	0.170000	4.600000e-01	2.400000e-01	0.320000	0.392392	0.320000	0.300000																										0				22						c.(709-711)tgC>tgT		gem (nuclear organelle) associated protein 4							67.0	75.0	72.0					17																	650572		2170	4269	6439	SO:0001819	synonymous_variant	50628	0	0					g.chr17:650572G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.711C>T	chr17.hg19:g.650572G>A		0					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Silent_p.C226C	p.C237C	NM_015721.2	NP_056536.2	1	2	3	2.017774	P57678	GEMI4_HUMAN		2	829	-		Myeloproliferative disorder(207;0.204)	Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	0	1	hg19	c.711C>T	CCDS45559.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	0	0	0		2	2	2	0		0	0	99		99	99	1	2.060000	-3.487476	1	0.170000	NM_015721			14	14		534	522	0		1	1		0	0	99	0		9.997140e-01	6.666292e-01	0	10	0	77	0	14	534
CACNG1	786	broad.mit.edu	37	17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	143					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCGTCCATGTTCTATGCCTT	0.637																																						ENST00000226021.3	1.000000	0.410000	9.500000e-01	5.400000e-01	0.700000	0.728650	0.700000	1.000000																										0				8						c.(427-429)Ttc>Gtc		calcium channel, voltage-dependent, gamma subunit 1	Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)						89.0	72.0	78.0					17																	65051341		2203	4300	6503	SO:0001583	missense	786	0	0					g.chr17:65051341T>G	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.427T>G	chr17.hg19:g.65051341T>G	ENSP00000226021:p.Phe143Val	0						p.F143V	NM_000727.3	NP_000718.1	1	2	3	2.013100	Q06432	CCG1_HUMAN		3	498	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	1	1	hg19	c.427T>G	CCDS11668.1	0	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727081	0.48833	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.82566	-0.0393	10	0.38643	T	0.18	.	14.9508	0.71071	0.0:0.0:0.0:1.0	.	143	Q06432	CCG1_HUMAN	V	143	ENSP00000226021:F143V	ENSP00000226021:F143V	F	+	1	0	0	CACNG1	62481803	62481803	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.988000	0.88194	1.944000	0.56390	0.379000	0.24179	TTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-5.427641	1	0.170000				16	16		263	256	0		1			0	0	42	0		9.999266e-01	0	0	0	0	0	0	16	263
HELZ	9931	broad.mit.edu	37	17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1798						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)			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)					CGGGGATGAAAAGTTGAAAGA	0.473																																						ENST00000358691.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(5392-5394)tTt>tGt		helicase with zinc finger							148.0	155.0	153.0					17																	65083046		2031	4194	6225	SO:0001583	missense	9931	0	0					g.chr17:65083046A>C	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.5393T>G	chr17.hg19:g.65083046A>C	ENSP00000351524:p.Phe1798Cys	0					HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	p.F1798C	NM_014877.3	NP_055692	1	2	3	2.013100	P42694	HELZ_HUMAN		32	5559	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	1	1	hg19	c.5393T>G	CCDS42374.1	1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059441	0.36373	.	.	ENSG00000198265	ENST00000358691	D	0.84800	-1.9	5.7	4.59	0.56863	5.7	4.59	0.56863	.	0.053448	0.85682	D	0.000000	T	0.75213	0.3819	N	0.14661	0.345	0.39299	D	0.964868	D;D	0.57257	0.979;0.979	P;P	0.46362	0.514;0.514	T	0.79391	-0.1823	10	0.87932	D	0	-17.7225	8.4921	0.33106	0.608:0.0:0.0:0.392	.	1799;1798	B7ZLW2;P42694	.;HELZ_HUMAN	C	1798	ENSP00000351524:F1798C	ENSP00000351524:F1798C	F	-	2	0	0	HELZ	62513508	62513508	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	4.895000	0.63214	2.166000	0.68216	0.528000	0.53228	TTT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_014877			102	99		463	459	1		1	1		0	0	101	0		1	9.994493e-01	0	11	0	41	0	102	463
HELZ	9931	broad.mit.edu	37	17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	873						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)			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)					CACCTACTTGATGATAGCTTC	0.483																																						ENST00000358691.5	1.000000	0.760000	1	8.600000e-01	0.970000	0.945546	0.970000	1.000000																										0				69						c.(2617-2619)aTc>aCc		helicase with zinc finger							193.0	190.0	191.0					17																	65144688		1937	4147	6084	SO:0001583	missense	9931	0	0					g.chr17:65144688A>G	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.2618T>C	chr17.hg19:g.65144688A>G	ENSP00000351524:p.Ile873Thr	0					HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	p.I873T	NM_014877.3	NP_055692	1	2	3	2.013100	P42694	HELZ_HUMAN		20	2784	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	1	1	hg19	c.2618T>C	CCDS42374.1	1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671671	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	D	0.92074	0.5667	10	0.87932	D	0	.	16.1449	0.81559	1.0:0.0:0.0:0.0	.	874;873	B7ZLW2;P42694	.;HELZ_HUMAN	T	873	ENSP00000351524:I873T	ENSP00000351524:I873T	I	-	2	0	0	HELZ	62575150	62575150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.426000	0.90273	2.269000	0.75478	0.455000	0.32223	ATC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	1		2	2	2	0		0	0	211		211	209	1	2.060000	-20.000000	1	0.170000	NM_014877			75	73		849	836	0		1	0		0	0	211	0		1	2.897551e-01	0	0	0	13	0	75	849
HELZ	9931	broad.mit.edu	37	17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	629						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)			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)					CCTGTTAGGACTCCATGGTAT	0.358																																						ENST00000358691.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1885-1887)aGt>aAt		helicase with zinc finger							141.0	129.0	133.0					17																	65162603		1851	4112	5963	SO:0001583	missense	9931	0	0					g.chr17:65162603C>T	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.1886G>A	chr17.hg19:g.65162603C>T	ENSP00000351524:p.Ser629Asn	0					HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	p.S629N	NM_014877.3	NP_055692	1	2	3	2.013100	P42694	HELZ_HUMAN		15	2052	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	1	1	hg19	c.1886G>A	CCDS42374.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637614	0.47049	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.17082	0.46	0.80722	D	1	B;B	0.31837	0.342;0.288	B;B	0.28709	0.093;0.076	T	0.74112	-0.3770	10	0.36615	T	0.2	-16.2585	19.6559	0.95842	0.0:1.0:0.0:0.0	.	629;629	B7ZLW2;P42694	.;HELZ_HUMAN	N	629	ENSP00000351524:S629N	ENSP00000351524:S629N	S	-	2	0	0	HELZ	62593065	62593065	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.358000	0.79466	2.657000	0.90304	0.491000	0.48974	AGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_014877			73	73		328	323	1		1	1		0	0	69	0		1	9.757806e-01	0	6	0	23	0	73	328
PSMD12	5718	broad.mit.edu	37	17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	412	PCI.				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)				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)					GAAGTTGATAATTCCTGCTAA	0.368																																						ENST00000356126.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1234-1236)aTt>aCt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							88.0	89.0	89.0					17																	65337095		2203	4299	6502	SO:0001583	missense	5718	0	0					g.chr17:65337095A>G	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.1235T>C	chr17.hg19:g.65337095A>G	ENSP00000348442:p.Ile412Thr	0					PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	p.I412T	NM_002816.3	NP_002807.1	1	2	3	2.013100	O00232	PSD12_HUMAN		11	1342	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	1	1	hg19	c.1235T>C	CCDS11669.1	1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965439	0.74131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.30981	1.51;1.51	4.81	4.81	0.61882	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.099183	0.64402	D	0.000002	T	0.52435	0.1734	M	0.71036	2.16	0.80722	D	1	D;B	0.57257	0.979;0.43	D;P	0.64877	0.93;0.697	T	0.56074	-0.8039	10	0.56958	D	0.05	-7.9757	14.3834	0.66926	1.0:0.0:0.0:0.0	.	392;412	A6NP15;O00232	.;PSD12_HUMAN	T	412;392	ENSP00000348442:I412T;ENSP00000349667:I392T	ENSP00000348442:I412T	I	-	2	0	0	PSMD12	62767557	62767557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.894000	0.92506	1.808000	0.52836	0.397000	0.26171	ATT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_002816, NM_174871			67	65		321	315	1		1	1		0	0	69	0		1	1	0	72	0	167	0	67	321
TXNDC17	84817	broad.mit.edu	37	17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000250101.5	+	1	340	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000361413.3_5'Flank|KIAA0753_ENST00000572370.1_5'Flank	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	5					oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652																																						ENST00000250101.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				3						c.(13-15)gaG>gaT		thioredoxin domain containing 17							28.0	28.0	28.0					17																	6544417		2203	4300	6503	SO:0001583	missense	84817	0	0					g.chr17:6544417G>T	BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"""thioredoxin (Trx)-related protein, 14 kDa"""		"""thioredoxin-like 5"""	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.15G>T	chr17.hg19:g.6544417G>T	ENSP00000250101:p.Glu5Asp	0					KIAA0753_ENST00000361413.3_5'Flank|TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000572370.1_5'Flank	p.E5D	NM_032731.3	NP_116120.1	1	2	3	2.017774	Q9BRA2	TXD17_HUMAN		1	340	+			A8K7E8	Missense_Mutation	SNP	ENST00000250101.5	1	1	hg19	c.15G>T	CCDS11077.1	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712972	0.30413	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.17	0.693	0.18056	5.17	0.693	0.18056	Thioredoxin-like fold (2);	0.104888	0.64402	D	0.000005	T	0.55226	0.1907	M	0.77616	2.38	0.41089	D	0.985587	B	0.13594	0.008	B	0.08055	0.003	T	0.48317	-0.9046	9	0.51188	T	0.08	-1.5413	4.211	0.10512	0.3585:0.0:0.4922:0.1493	.	5	Q9BRA2	TXD17_HUMAN	D	5	.	ENSP00000250101:E5D	E	+	3	2	2	TXNDC17	6485141	6485141	1.000000	0.71417	0.309000	0.25155	0.114000	0.19823	0.547000	0.23299	-0.009000	0.14296	-0.251000	0.11542	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_032731			32	32		141	137	1		1	1		0	0	25	0		1	1	0	162	0	267	0	32	141
MED31	51003	broad.mit.edu	37	17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000225728.3	-	4	346	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	81					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408																																						ENST00000225728.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(241-243)Tat>Cat		mediator complex subunit 31							108.0	97.0	100.0					17																	6547942		2203	4300	6503	SO:0001583	missense	51003	0	0					g.chr17:6547942A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.241T>C	chr17.hg19:g.6547942A>G	ENSP00000225728:p.Tyr81His	0					MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	p.Y81H	NM_016060.2	NP_057144.1	1	2	3	2.017774	Q9Y3C7	MED31_HUMAN		4	346	-			B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	1	1	hg19	c.241T>C	CCDS11078.1	1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789208	0.31685	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.109888	0.64402	D	0.000004	T	0.44286	0.1286	N	0.21617	0.685	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.29822	-0.9999	9	0.29301	T	0.29	-9.6399	14.2142	0.65783	1.0:0.0:0.0:0.0	.	81	Q9Y3C7	MED31_HUMAN	H	81	.	ENSP00000225728:Y81H	Y	-	1	0	0	MED31	6488666	6488666	1.000000	0.71417	0.105000	0.21289	0.322000	0.28314	6.675000	0.74493	2.304000	0.77564	0.528000	0.53228	TAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_016060			94	92		350	343	1		1	1		0	0	69	0		1	1	0	45	0	76	0	94	350
PSMD12	5718	broad.mit.edu	37	17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	94					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)				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)					TAACTGACTCCGCCTTTTGGA	0.358																																						ENST00000356126.3	1.000000	0.270000	9.400000e-01	4.100000e-01	0.610000	0.645989	0.610000	1.000000																										0				13						c.(280-282)cGg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							69.0	68.0	69.0					17																	65353435		2203	4300	6503	SO:0001583	missense	5718	3	121410	33				g.chr17:65353435C>T	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.281G>A	chr17.hg19:g.65353435C>T	ENSP00000348442:p.Arg94Gln	0					PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q	p.R94Q	NM_002816.3	NP_002807.1	1	2	3	2.013100	O00232	PSD12_HUMAN		3	388	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	1	1	hg19	c.281G>A	CCDS11669.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.233416	0.95207	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	3.35;0.94	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.73678	-0.3907	10	0.54805	T	0.06	-13.7726	18.9241	0.92537	0.0:1.0:0.0:0.0	.	74;94	A6NP15;O00232	.;PSD12_HUMAN	Q	94;74	ENSP00000348442:R94Q;ENSP00000349667:R74Q	ENSP00000348442:R94Q	R	-	2	0	0	PSMD12	62783897	62783897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.035180	1	0.170000	NM_002816, NM_174871			7	6		140	138	0		1	1		0	0	46	0		9.799883e-01	9.814276e-01	0	7	0	140	0	7	140
PITPNC1	26207	broad.mit.edu	37	17	65671660	65671660	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000581322.1	+	8	682		c.e8+2		PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGTGGTATGGTAAGTCAATTT	0.408																																						ENST00000581322.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e8+2		phosphatidylinositol transfer protein, cytoplasmic 1							182.0	171.0	174.0					17																	65671660		1917	4128	6045	SO:0001630	splice_region_variant	26207	0	0					g.chr17:65671660T>C	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.682+2T>C	chr17.hg19:g.65671660T>C		0					PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site				1	2	3	2.013100	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)	8	682	+	all_cancers(12;3.03e-10)		A8K473|J3QR20|Q96I07	Splice_Site	SNP	ENST00000581322.1	1	1	hg19		CCDS58588.1	1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874773	0.91664	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0985	0.81148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PITPNC1	63102122	63102122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.915000	0.87484	2.216000	0.71823	0.443000	0.29094	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_012417	Intron		75	73		351	345	1		1	0		0	0	71	0		1	0	0	1	0	0	0	75	351
NOL11	25926	broad.mit.edu	37	17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	4					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253247.4	1.000000	0.350000	9.500000e-01	4.900000e-01	0.670000	0.694248	0.670000	1.000000																										0				11						c.(10-12)Ctg>Atg		nucleolar protein 11							48.0	44.0	45.0					17																	65714073		2203	4300	6503	SO:0001583	missense	25926	0	0					g.chr17:65714073C>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.10C>A	chr17.hg19:g.65714073C>A	ENSP00000253247:p.Leu4Met	0		OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	p.L4M	NM_015462.3	NP_056277.2	1	2	3	2.013100	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)	1	125	+	all_cancers(12;1.54e-10)		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	1	1	hg19	c.10C>A	CCDS11671.1	0	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080987	0.20309	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	0.587	0.17439	4.91	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65973	-0.6038	10	0.72032	D	0.01	-9.876	8.0543	0.30596	0.0:0.582:0.0:0.418	.	4	Q9H8H0	NOL11_HUMAN	M	4	ENSP00000253247:L4M	ENSP00000253247:L4M	L	+	1	2	2	NOL11	63144535	63144535	0.885000	0.30320	0.995000	0.50966	0.477000	0.33069	0.410000	0.21098	0.079000	0.16929	-0.254000	0.11334	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-14.180890	1	0.170000	NM_015462			11	11		195	195	0		1	1		0	0	50	0		9.984711e-01	7.838465e-01	0	3	0	50	0	11	195
BPTF	2186	broad.mit.edu	37	17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000321892.4	+	3	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	482					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)			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)			CAGAGAAGAAGATACAGAAAA	0.328																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1444-1446)Gat>Tat		bromodomain PHD finger transcription factor							65.0	76.0	73.0					17																	65862587		2197	4296	6493	SO:0001583	missense	2186	0	0					g.chr17:65862587G>T	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.1444G>T	chr17.hg19:g.65862587G>T	ENSP00000315454:p.Asp482Tyr	0					BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y	p.D482Y			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	3	1505	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	1	1	hg19	c.1444G>T		1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875642	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.64991	-0.11;-0.13;-0.12	5.84	5.84	0.93424	5.84	5.84	0.93424	.	.	.	.	.	T	0.66376	0.2783	L	0.49350	1.555	0.80722	D	1	B;P;P	0.47106	0.128;0.756;0.89	B;P;P	0.49683	0.03;0.619;0.6	T	0.68720	-0.5334	9	0.72032	D	0.01	.	14.9343	0.70941	0.0:0.0:0.8571:0.1429	.	482;482;482	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Y	387;482;482;482;343	ENSP00000307208:D482Y;ENSP00000334351:D482Y;ENSP00000315454:D482Y	ENSP00000307208:D482Y	D	+	1	0	0	BPTF	63293049	63293049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.618000	0.74214	2.760000	0.94817	0.655000	0.94253	GAT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_182641, NM_004459			101	100		508	497	1		1	0		0	0	127	0		1	9.937693e-01	0	1	0	40	0	101	508
BPTF	2186	broad.mit.edu	37	17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000321892.4	+	3	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K|BPTF_ENST00000306378.6_Missense_Mutation_p.E484K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	484					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)			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)			AGAAGATACAGAAAATGAAAA	0.333																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1450-1452)Gaa>Aaa		bromodomain PHD finger transcription factor							68.0	80.0	76.0					17																	65862593		2198	4297	6495	SO:0001583	missense	2186	0	0					g.chr17:65862593G>A	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.1450G>A	chr17.hg19:g.65862593G>A	ENSP00000315454:p.Glu484Lys	0					BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K|BPTF_ENST00000306378.6_Missense_Mutation_p.E484K	p.E484K			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	3	1511	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	1	1	hg19	c.1450G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372993	0.61624	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.1;-0.14;-0.13	5.84	5.84	0.93424	5.84	5.84	0.93424	.	.	.	.	.	T	0.74741	0.3756	M	0.65975	2.015	0.58432	D	0.999999	P;D;D	0.56968	0.457;0.972;0.978	B;P;P	0.56343	0.081;0.737;0.796	T	0.76454	-0.2953	9	0.72032	D	0.01	.	18.3357	0.90287	0.0:0.0:1.0:0.0	.	484;484;484	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	389;484;484;484;345	ENSP00000307208:E484K;ENSP00000334351:E484K;ENSP00000315454:E484K	ENSP00000307208:E484K	E	+	1	0	0	BPTF	63293055	63293055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.177000	0.89688	2.760000	0.94817	0.655000	0.94253	GAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_182641, NM_004459			104	102		532	519	1		1	1		0	0	131	0		1	9.962381e-01	0	2	0	43	0	104	532
BPTF	2186	broad.mit.edu	37	17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000321892.4	+	12	3309	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N|BPTF_ENST00000306378.6_Missense_Mutation_p.S957N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1083					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)			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)			TGTTCACGAAGTCCAAAAAAA	0.318																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				78						c.(3247-3249)aGt>aAt		bromodomain PHD finger transcription factor							40.0	43.0	42.0					17																	65905755		2201	4299	6500	SO:0001583	missense	2186	0	0					g.chr17:65905755G>A	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.3248G>A	chr17.hg19:g.65905755G>A	ENSP00000315454:p.Ser1083Asn	0					BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N|BPTF_ENST00000306378.6_Missense_Mutation_p.S957N	p.S1083N			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	12	3309	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	1	1	hg19	c.3248G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053760	0.36277	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63255	-0.02;-0.03;-0.02	5.55	5.55	0.83447	5.55	5.55	0.83447	.	.	.	.	.	T	0.63651	0.2529	L	0.29908	0.895	0.32590	N	0.527265	P;D	0.56035	0.955;0.974	P;P	0.56216	0.718;0.794	T	0.65635	-0.6120	9	0.31617	T	0.26	-13.4805	14.8729	0.70471	0.0:0.0:1.0:0.0	.	957;1083	Q12830-2;Q12830-4	.;.	N	957;1083;1083	ENSP00000307208:S957N;ENSP00000334351:S1083N;ENSP00000315454:S1083N	ENSP00000307208:S957N	S	+	2	0	0	BPTF	63336217	63336217	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.235000	0.58666	2.885000	0.99019	0.655000	0.94253	AGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_182641, NM_004459			26	26		116	112	1		1	1		0	0	58	0		1	9.847401e-01	0	4	0	29	0	26	116
BPTF	2186	broad.mit.edu	37	17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000321892.4	+	13	4341	c.4280G>A	c.(4279-4281)aGc>aAc	p.S1427N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1427					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)			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)			ATTCAGGATAGCAGTGAAGAA	0.393																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999671	0.990000	1.000000																										0				78						c.(4279-4281)aGc>aAc		bromodomain PHD finger transcription factor							107.0	104.0	105.0					17																	65907902		2203	4300	6503	SO:0001583	missense	2186	0	0					g.chr17:65907902G>A	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.4280G>A	chr17.hg19:g.65907902G>A	ENSP00000315454:p.Ser1427Asn	0					BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N	p.S1427N			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	13	4341	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	1	1	hg19	c.4280G>A		1	.	.	.	.	.	.	.	.	.	.	G	7.229	0.598910	0.13939	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.34	3.33	0.38152	5.34	3.33	0.38152	.	.	.	.	.	T	0.38453	0.1041	N	0.14661	0.345	0.39794	D	0.972479	B;B	0.17268	0.018;0.021	B;B	0.15484	0.011;0.013	T	0.21655	-1.0239	9	0.06757	T	0.87	-8.1721	10.6426	0.45602	0.1843:0.0:0.8157:0.0	.	1301;1427	Q12830-2;Q12830-4	.;.	N	1301;1427;1427	ENSP00000307208:S1301N;ENSP00000334351:S1427N;ENSP00000315454:S1427N	ENSP00000307208:S1301N	S	+	2	0	0	BPTF	63338364	63338364	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.674000	0.46867	2.478000	0.83669	0.650000	0.86243	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-19.267500	1	0.170000	NM_182641, NM_004459			50	50		371	359	1		1	1		0	0	109	0		1	9.278247e-01	0	3	0	32	0	50	371
BPTF	2186	broad.mit.edu	37	17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000321892.4	+	18	6194	c.6133C>T	c.(6133-6135)Cga>Tga	p.R2045*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2045					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)			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)			TTTTTAGAAACGACTGGAGCA	0.418																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				78						c.(6133-6135)Cga>Tga		bromodomain PHD finger transcription factor							46.0	43.0	44.0					17																	65924474		2203	4300	6503	SO:0001587	stop_gained	2186	0	0					g.chr17:65924474C>T	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.6133C>T	chr17.hg19:g.65924474C>T	ENSP00000315454:p.Arg2045*	0					BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*	p.R2045*			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	18	6194	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	0	1	hg19	c.6133C>T		1	.	.	.	.	.	.	.	.	.	.	C	44	10.770991	0.99464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3055	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	1919;2045;2045	.	ENSP00000307208:R1919X	R	+	1	2	2	BPTF	63354936	63354936	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	7.412000	0.80091	2.827000	0.97445	0.650000	0.86243	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-17.054480	1	0.170000	NM_182641, NM_004459			32	32		177	170	0		1	1		0	0	44	0		1	9.995073e-01	0	3	0	65	0	32	177
SLC13A5	284111	broad.mit.edu	37	17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	374					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAAACTTGGGCTTCTGTGAAG	0.537																																						ENST00000433363.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.992562	0.990000	1.000000																										0				26						c.(1120-1122)aaG>aaT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							95.0	78.0	84.0					17																	6597450		2203	4300	6503	SO:0001583	missense	284111	0	0					g.chr17:6597450C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1122G>T	chr17.hg19:g.6597450C>A	ENSP00000406220:p.Lys374Asn	0					SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N	p.K374N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	1	2	3	2.017774	Q86YT5	S13A5_HUMAN		8	1355	-			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	1	1	hg19	c.1122G>T	CCDS11079.1	1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545704	0.65198	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.05717	3.81;3.4	5.61	4.63	0.57726	5.61	4.63	0.57726	.	0.229422	0.49916	D	0.000132	T	0.09992	0.0245	L	0.54965	1.715	0.38078	D	0.93658	P;P;P;P	0.47034	0.592;0.889;0.592;0.592	P;P;P;P	0.49140	0.601;0.543;0.601;0.482	T	0.04607	-1.0939	10	0.28530	T	0.3	.	7.884	0.29640	0.0:0.8298:0.0:0.1702	.	374;331;357;374	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	374;374;331	ENSP00000406220:K374N;ENSP00000370464:K331N	ENSP00000293800:K374N	K	-	3	2	2	SLC13A5	6538174	6538174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.272000	0.33109	2.815000	0.96918	0.561000	0.74099	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_177550			19	19		146	144	1		1	1		0	0	48	0		9.999928e-01	9.443789e-01	0	17	0	23	0	19	146
BPTF	2186	broad.mit.edu	37	17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000321892.4	+	29	9011	c.8950C>T	c.(8950-8952)Cga>Tga	p.R2984*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|RN7SL622P_ENST00000585292.1_RNA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2984	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			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)			AGTACAAAGACGATATTATGA	0.363																																						ENST00000321892.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				78						c.(8950-8952)Cga>Tga		bromodomain PHD finger transcription factor							86.0	84.0	85.0					17																	65971920		2203	4300	6503	SO:0001587	stop_gained	2186	0	0					g.chr17:65971920C>T	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.8950C>T	chr17.hg19:g.65971920C>T	ENSP00000315454:p.Arg2984*	0					BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*	p.R2984*			1	2	3	2.013100	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)	29	9011	+	all_cancers(12;6e-11)		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	0	1	hg19	c.8950C>T		1	.	.	.	.	.	.	.	.	.	.	C	51	18.463470	0.99905	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	.	.	.	5.64	4.67	0.58626	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8102	15.5413	0.76052	0.147:0.853:0.0:0.0	.	.	.	.	X	2858;2841;2984;189	.	ENSP00000307208:R2858X	R	+	1	2	2	BPTF	63402382	63402382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.983000	0.70540	1.346000	0.45694	0.591000	0.81541	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_182641, NM_004459			47	45		267	260	1		1	1		0	0	63	0		1	9.999429e-01	0	8	0	77	0	47	267
ARSG	22901	broad.mit.edu	37	17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					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)			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)			GGCCGGCTTGGCCTTCGCAAT	0.612																																						ENST00000448504.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(289-291)gGc>gAc		arylsulfatase G							72.0	61.0	65.0					17																	66339816		2203	4300	6503	SO:0001583	missense	22901	1	121412	32				g.chr17:66339816G>A	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.290G>A	chr17.hg19:g.66339816G>A	ENSP00000407193:p.Gly97Asp	0					ARSG_ENST00000452479.2_5'UTR	p.G97D	NM_014960.4	NP_055775.2	1	2	3	2.013100	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)	3	1086	+			Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	1	1	hg19	c.290G>A	CCDS11676.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746529	0.89663	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85275	0.1058	9	0.51188	T	0.08	.	17.7751	0.88504	0.0:0.0:1.0:0.0	.	97	Q96EG1	ARSG_HUMAN	D	97	.	ENSP00000413953:G97D	G	+	2	0	0	ARSG	63851411	63851411	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.229000	0.89791	2.514000	0.84764	0.650000	0.86243	GGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	1	0	1		2	2	2	0		0	0	55		55	52	1	2.060000	-20.000000	1	0.170000	NM_014960			60	60		263	258	1		1	0		0	0	55	0		1	3.886328e-01	0	0	0	7	0	60	263
WIPI1	55062	broad.mit.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458																																						ENST00000262139.5	1.000000	0.930000	1	9.900000e-01	0.990000	0.996040	0.990000	1.000000																										0				18						c.(994-996)gCg>gTg		WD repeat domain, phosphoinositide interacting 1							93.0	75.0	81.0					17																	66425048		2203	4300	6503	SO:0001583	missense	55062	0	0					g.chr17:66425048G>A		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.995C>T	chr17.hg19:g.66425048G>A	ENSP00000262139:p.Ala332Val	0					WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA	p.A332V	NM_017983.5	NP_060453.3	1	2	3	2.013100	Q5MNZ9	WIPI1_HUMAN		10	994	-			Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	1	1	hg19	c.995C>T	CCDS11677.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	0	WIPI1	63936643	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.143792	1	0.170000	NM_017983			22	22		162	158	1		1	1		0	0	41	0		9.999990e-01	9.999999e-01	0	41	0	179	0	22	162
PRKAR1A	5573	broad.mit.edu	37	17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000589228.1	+	5	606	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	160					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)			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)					CTCCTTTATCGCAGGAGAGAC	0.418			"""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																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	"""Dom, Rec"""	yes	Carney complex	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	17q23-q24	5573	T, Mis, N, F, S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""				"""E, M"""	E, M	RET	myxoma, endocrine, papillary thyroid	papillary thyroid		0				31						c.(478-480)Gca>Aca		protein kinase, cAMP-dependent, regulatory, type I, alpha							142.0	137.0	139.0					17																	66520194		2203	4300	6503	SO:0001583	missense	5573	1	121412	34	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	g.chr17:66520194G>A		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.478G>A	chr17.hg19:g.66520194G>A	ENSP00000464977:p.Ala160Thr	0					PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T	p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	1	2	3	2.013100	P10644	KAP0_HUMAN		5	606	+	Breast(10;1.64e-13)		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	1	1	hg19	c.478G>A	CCDS11678.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619415	0.66787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.93604	-3.25;-3.25;-3.25	6.08	6.08	0.98989	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.093232	0.64402	D	0.000001	D	0.93442	0.7908	M	0.69823	2.125	0.80722	D	1	P;P	0.36647	0.563;0.563	B;B	0.38296	0.27;0.27	D	0.91781	0.5435	10	0.37606	T	0.19	-26.6197	20.2751	0.98485	0.0:0.0:1.0:0.0	.	160;160	B2R5T5;P10644	.;KAP0_HUMAN	T	160	ENSP00000351410:A160T;ENSP00000376475:A160T;ENSP00000445625:A160T	ENSP00000351410:A160T	A	+	1	0	0	PRKAR1A	64031789	64031789	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.142779	1	0.170000				81	81		490	483	1		1	1		0	0	93	0		1	1	0	129	0	564	0	81	490
FAM20A	54757	broad.mit.edu	37	17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000592554.1	-	11	2301	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	527					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572																																						ENST00000592554.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1579-1581)Gtg>Ttg		family with sequence similarity 20, member A							68.0	55.0	59.0					17																	66533665		2203	4300	6503	SO:0001583	missense	54757	0	0					g.chr17:66533665C>A	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1579G>T	chr17.hg19:g.66533665C>A	ENSP00000468308:p.Val527Leu	0					PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	p.V527L	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	1	2	3	2.013100	Q96MK3	FA20A_HUMAN		11	2301	-	Breast(10;1.64e-13)		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	1	1	hg19	c.1579G>T	CCDS11679.1	1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377848	0.24944	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.51	1.0	0.19881	5.51	1.0	0.19881	.	1.436550	0.03551	N	0.225445	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15521	-1.0434	9	0.28530	T	0.3	3.9634	3.8588	0.08986	0.1154:0.524:0.1039:0.2567	.	527;382	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	L	527;131	.	ENSP00000226094:V527L	V	-	1	0	0	FAM20A	64045260	64045260	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-1.052000	0.03503	0.687000	0.31509	0.484000	0.47621	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_017565			32	32		73	70	1		1	0		0	0	27	0		1	9.995568e-01	0	0	0	32	0	32	73
FAM20A	54757	broad.mit.edu	37	17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000592554.1	-	10	2038	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	439					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517																																						ENST00000592554.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999918	0.990000	1.000000																										0				9						c.(1315-1317)tCc>tAc		family with sequence similarity 20, member A							147.0	130.0	136.0					17																	66535523		2203	4300	6503	SO:0001583	missense	54757	0	0					g.chr17:66535523G>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1316C>A	chr17.hg19:g.66535523G>T	ENSP00000468308:p.Ser439Tyr	0					PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	p.S439Y	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	1	2	3	2.013100	Q96MK3	FA20A_HUMAN		10	2038	-	Breast(10;1.64e-13)		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	1	1	hg19	c.1316C>A	CCDS11679.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318924	0.81469	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78916	2.43	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.66847	0.947;0.844	T	0.70901	-0.4746	9	0.02654	T	1	-42.1522	20.3437	0.98782	0.0:0.0:1.0:0.0	.	439;301	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	Y	439;43	.	ENSP00000226094:S439Y	S	-	2	0	0	FAM20A	64047118	64047118	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.394000	0.73223	2.815000	0.96918	0.561000	0.74099	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-2.921467	1	0.170000	NM_017565			41	39		266	265	1		1	0		0	0	78	0		1	9.623604e-01	0	0	0	37	0	41	266
FAM20A	54757	broad.mit.edu	37	17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000592554.1	-	7	1657	c.935A>G	c.(934-936)aAc>aGc	p.N312S	AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	312					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577																																						ENST00000592554.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				9						c.(934-936)aAc>aGc		family with sequence similarity 20, member A							89.0	72.0	78.0					17																	66538300		2203	4300	6503	SO:0001583	missense	54757	0	0					g.chr17:66538300T>C	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.935A>G	chr17.hg19:g.66538300T>C	ENSP00000468308:p.Asn312Ser	0					PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank	p.N312S	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	1	2	3	2.013100	Q96MK3	FA20A_HUMAN		7	1657	-	Breast(10;1.64e-13)		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	1	1	hg19	c.935A>G	CCDS11679.1	1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727269	0.89390	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86128	0.1573	9	0.66056	D	0.02	-46.305	16.5885	0.84745	0.0:0.0:0.0:1.0	.	312	Q96MK3	FA20A_HUMAN	S	312	.	ENSP00000226094:N312S	N	-	2	0	0	FAM20A	64049895	64049895	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	AAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_017565			32	30		162	151	1		1	0		0	0	51	0		1	9.181394e-01	0	0	0	24	0	32	162
FAM20A	54757	broad.mit.edu	37	17	66596565	66596565	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	81					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711																																						ENST00000592554.1	1.000000	0.810000	1	9.900000e-01	0.990000	0.987730	0.990000	1.000000																										0				9						c.(241-243)gcT>gcC		family with sequence similarity 20, member A							12.0	16.0	14.0					17																	66596565		2162	4240	6402	SO:0001819	synonymous_variant	54757	0	0					g.chr17:66596565A>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.243T>C	chr17.hg19:g.66596565A>G		0						p.A81A	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	1	2	3	2.013100	Q96MK3	FA20A_HUMAN		1	965	-	Breast(10;1.64e-13)		B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	0	1	hg19	c.243T>C	CCDS11679.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	0		2	2	2	0		0	0	8		8	5	1	2.060000	-19.999800	1	0.170000	NM_017565			15	15		116	114	0		1	0		0	0	8	0		9.998929e-01	2.965558e-01	0	0	0	9	0	15	116
ABCA8	10351	broad.mit.edu	37	17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1532					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGCTCTGTTTAACTGCATA	0.348																																						ENST00000269080.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4594-4596)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 8							101.0	96.0	97.0					17																	66864494		2203	4300	6503	SO:0001583	missense	10351	0	0					g.chr17:66864494T>G	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.4595A>C	chr17.hg19:g.66864494T>G	ENSP00000269080:p.Lys1532Thr	0					ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	p.K1532T	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		37	4732	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	1	1	hg19	c.4595A>C	CCDS11680.1	1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250391	0.59212	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.81739	-1.53;-1.53	4.6	3.52	0.40303	4.6	3.52	0.40303	.	0.000000	0.52532	D	0.000065	D	0.92031	0.7475	H	0.97440	4.005	0.40588	D	0.981466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.91842	0.5484	10	0.87932	D	0	.	8.1627	0.31209	0.0:0.0918:0.0:0.9082	.	1572;1572;1532	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1532;1572	ENSP00000269080:K1532T;ENSP00000402814:K1572T	ENSP00000269080:K1532T	K	-	2	0	0	ABCA8	64376089	64376089	1.000000	0.71417	0.986000	0.45419	0.598000	0.36846	5.297000	0.65704	0.900000	0.36469	0.533000	0.62120	AAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	0	0	1		15	2	2	1		1	1	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_007168			53	53		219	216	1		1	0		1	0	61	0		9.999999e-01	6.639562e-01	0	0	0	11	0	53	219
ABCA8	10351	broad.mit.edu	37	17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	883					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATGCTTGCCCCTAAGGTG	0.353																																						ENST00000269080.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				83						c.(2647-2649)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 8							132.0	112.0	119.0					17																	66891152		2203	4300	6503	SO:0001583	missense	10351	0	0					g.chr17:66891152C>T	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.2647G>A	chr17.hg19:g.66891152C>T	ENSP00000269080:p.Ala883Thr	0					ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	p.A883T	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		20	2784	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	1	1	hg19	c.2647G>A	CCDS11680.1	1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521765	0.27211	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85484	-1.99;-1.99	3.61	-1.24	0.09435	3.61	-1.24	0.09435	.	0.174631	0.27411	N	0.019481	T	0.77877	0.4196	M	0.68317	2.08	0.26827	N	0.968675	B;B;B;B;B	0.32731	0.167;0.201;0.382;0.088;0.201	B;B;B;B;B	0.36092	0.138;0.217;0.146;0.053;0.217	T	0.63554	-0.6611	10	0.25106	T	0.35	.	2.698	0.05140	0.3924:0.3702:0.0:0.2374	.	862;923;923;923;883	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	883;923;862	ENSP00000269080:A883T;ENSP00000402814:A923T	ENSP00000269080:A883T	A	-	1	0	0	ABCA8	64402747	64402747	0.000000	0.05858	0.934000	0.37439	0.475000	0.33008	-1.033000	0.03571	0.012000	0.14892	0.650000	0.86243	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.961480	1	0.170000	NM_007168			42	41		233	229	1		1	0		0	0	55	0		1	4.170840e-01	0	0	0	9	0	42	233
ABCA8	10351	broad.mit.edu	37	17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	694					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGCATCAGGGATGTGCTGT	0.333																																						ENST00000269080.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2080-2082)Cct>Act		ATP-binding cassette, sub-family A (ABC1), member 8							175.0	164.0	168.0					17																	66903959		2203	4300	6503	SO:0001583	missense	10351	0	0					g.chr17:66903959G>T	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.2080C>A	chr17.hg19:g.66903959G>T	ENSP00000269080:p.Pro694Thr	0					ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	p.P694T	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		16	2217	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	1	1	hg19	c.2080C>A	CCDS11680.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.000000	0.48286	D	0.000182	D	0.87939	0.6304	H	0.96777	3.88	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.998;0.996;0.758;0.996;0.996	D;D;B;D;D	0.76071	0.987;0.931;0.354;0.969;0.931	D	0.92010	0.5617	10	0.87932	D	0	.	17.2378	0.87004	0.0:0.0:1.0:0.0	.	673;734;734;734;694	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	694;734;673	ENSP00000269080:P694T;ENSP00000402814:P734T	ENSP00000269080:P694T	P	-	1	0	0	ABCA8	64415554	64415554	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.464000	0.53057	2.544000	0.85801	0.655000	0.94253	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.920118	1	0.170000	NM_007168			37	37		128	125	1		1	0		0	0	33	0		1	5.698302e-01	0	0	0	8	0	37	128
ABCA8	10351	broad.mit.edu	37	17	66914273	66914273	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	614	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTCCATACTTGGTGTCTTG	0.458																																						ENST00000269080.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1840-1842)caA>caG		ATP-binding cassette, sub-family A (ABC1), member 8							181.0	145.0	157.0					17																	66914273		2203	4300	6503	SO:0001819	synonymous_variant	10351	0	0					g.chr17:66914273T>C	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.1842A>G	chr17.hg19:g.66914273T>C		0					ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	p.Q614Q	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		14	1979	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	1	1	hg19	c.1842A>G	CCDS11680.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_007168			65	63		294	289	0		1	0		0	0	65	0		1	6.191301e-01	0	0	0	11	0	65	294
ABCA8	10351	broad.mit.edu	37	17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	351					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGAAGGTGTCTGTACAGTGA	0.473																																						ENST00000269080.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.997088	0.990000	1.000000																										0				83						c.(1051-1053)aGa>aTa		ATP-binding cassette, sub-family A (ABC1), member 8							99.0	79.0	86.0					17																	66925263		2203	4300	6503	SO:0001583	missense	10351	0	0					g.chr17:66925263C>A	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.1052G>T	chr17.hg19:g.66925263C>A	ENSP00000269080:p.Arg351Ile	0					ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	p.R351I	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		8	1189	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	1	1	hg19	c.1052G>T	CCDS11680.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070010	0.55539	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86865	-2.18;-2.18	4.67	3.7	0.42460	4.67	3.7	0.42460	.	0.000000	0.56097	D	0.000028	D	0.89969	0.6869	M	0.81802	2.56	0.48341	D	0.999631	P;D;B;P;D	0.53151	0.948;0.958;0.229;0.896;0.958	P;P;B;P;P	0.58780	0.745;0.845;0.145;0.578;0.845	D	0.88299	0.2948	10	0.42905	T	0.14	.	5.3451	0.16004	0.0:0.753:0.0:0.247	.	290;351;351;351;351	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	351;351;290	ENSP00000269080:R351I;ENSP00000402814:R351I	ENSP00000269080:R351I	R	-	2	0	0	ABCA8	64436858	64436858	0.155000	0.22806	0.973000	0.42090	0.203000	0.24098	1.211000	0.32382	2.592000	0.87571	0.655000	0.94253	AGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_007168			27	26		203	199	1		1	0		0	0	58	0		1	2.495821e-01	0	0	0	8	0	27	203
ABCA8	10351	broad.mit.edu	37	17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATATTTTTTCCAGTAACTGA	0.338																																						ENST00000269080.2	1.000000	0.660000	1	7.900000e-01	0.940000	0.913946	0.940000	1.000000																										0				83						c.(616-618)gGa>gAa		ATP-binding cassette, sub-family A (ABC1), member 8							103.0	99.0	100.0					17																	66928609		2203	4300	6503	SO:0001583	missense	10351	0	0					g.chr17:66928609C>T	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.617G>A	chr17.hg19:g.66928609C>T	ENSP00000269080:p.Gly206Glu	0					ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	p.G206E	NM_007168.2	NP_009099.1	1	2	3	2.013100	O94911	ABCA8_HUMAN		6	754	-	Breast(10;4.56e-13)		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	1	1	hg19	c.617G>A	CCDS11680.1	1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390071	0.61956	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86164	-2.08;-2.08	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000113	D	0.93041	0.7785	M	0.83603	2.65	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.991;0.978;0.987	D	0.92106	0.5692	10	0.38643	T	0.18	.	13.6644	0.62387	0.0:1.0:0.0:0.0	.	145;206;206;206;206	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	E	206;206;145;206	ENSP00000269080:G206E;ENSP00000402814:G206E	ENSP00000269080:G206E	G	-	2	0	0	ABCA8	64440204	64440204	0.972000	0.33761	0.965000	0.40720	0.557000	0.35523	2.978000	0.49305	2.686000	0.91538	0.563000	0.77884	GGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-9.380376	1	0.170000	NM_007168			34	34		400	396	0		1	0		0	0	105	0		1	3.410221e-01	0	0	0	15	0	34	400
ABCA9	10350	broad.mit.edu	37	17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1566					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1566H(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)					TGAAGAAAGCCTGTGATAAAG	0.418																																						ENST00000340001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.Q1566H(1)	endometrium(1)	91						c.(4696-4698)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 9							139.0	135.0	136.0					17																	66978725		2203	4300	6503	SO:0001583	missense	10350	0	0					g.chr17:66978725C>A	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.4698G>T	chr17.hg19:g.66978725C>A	ENSP00000342216:p.Gln1566His	0					ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H	p.Q1566H	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		37	4909	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.4698G>T	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597965	0.46318	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.84442	-1.85	4.9	2.88	0.33553	4.9	2.88	0.33553	.	0.774711	0.10960	N	0.615066	D	0.83110	0.5183	M	0.69248	2.105	0.80722	D	1	B	0.17667	0.023	B	0.23018	0.043	T	0.76564	-0.2913	10	0.52906	T	0.07	.	8.5998	0.33738	0.1522:0.7666:0.0:0.0811	.	1566	Q8IUA7	ABCA9_HUMAN	H	1566;1511	ENSP00000342216:Q1566H	ENSP00000342216:Q1566H	Q	-	3	2	2	ABCA9	64490320	64490320	0.015000	0.18098	0.981000	0.43875	0.996000	0.88848	-0.046000	0.11983	0.569000	0.29329	0.609000	0.83330	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		14	2	2	0		0	1	135		135	133	1	2.060000	-20.000000	1	0.170000	NM_172386			85	82		405	397	1		1	0		0	0	135	0		1	7.255861e-01	0	0	0	14	0	85	405
ABCA9	10350	broad.mit.edu	37	17	66981212	66981212	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TTATTCCCTCTGACAAGGTCT	0.537																																						ENST00000340001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(4264-4266)tcA>tcG		ATP-binding cassette, sub-family A (ABC1), member 9							128.0	112.0	117.0					17																	66981212		2203	4300	6503	SO:0001819	synonymous_variant	10350	0	0					g.chr17:66981212T>C	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.4266A>G	chr17.hg19:g.66981212T>C		0					ABCA9_ENST00000370732.2_Silent_p.S1422S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.S1384S	p.S1422S	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		33	4477	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	1	1	hg19	c.4266A>G	CCDS11681.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_172386			79	78		336	331	1		1	0		0	0	91	0		1	8.600279e-01	0	0	0	17	0	79	336
ABCA9	10350	broad.mit.edu	37	17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1254					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TCTCCTTCAGGCTCTTCTGGG	0.388																																						ENST00000340001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(3760-3762)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 9							173.0	147.0	156.0					17																	66987055		2203	4300	6503	SO:0001583	missense	10350	0	0					g.chr17:66987055G>A	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.3760C>T	chr17.hg19:g.66987055G>A	ENSP00000342216:p.Pro1254Ser	0					ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S	p.P1254S	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		29	3971	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.3760C>T	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139931	0.37728	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88124	-2.19;-2.34	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000250	D	0.91164	0.7217	M	0.64170	1.965	0.20074	N	0.999939	D;P	0.60160	0.987;0.529	P;B	0.58660	0.843;0.285	D	0.85458	0.1165	10	0.51188	T	0.08	.	17.7247	0.88362	0.0:0.0:1.0:0.0	.	1254;1254	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1254;1199;1254	ENSP00000342216:P1254S;ENSP00000359767:P1254S	ENSP00000342216:P1254S	P	-	1	0	0	ABCA9	64498650	64498650	0.390000	0.25213	0.465000	0.27155	0.137000	0.21094	1.762000	0.38451	2.541000	0.85698	0.655000	0.94253	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_172386			59	57		272	268	1		1	0		0	0	43	0		1	9.761307e-01	0	0	0	30	0	59	272
ABCA9	10350	broad.mit.edu	37	17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1202					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					GCCAGGTATACAATTTCAGAT	0.343																																						ENST00000340001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(3604-3606)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 9							105.0	104.0	104.0					17																	66989177		2202	4300	6502	SO:0001583	missense	10350	0	0					g.chr17:66989177C>T	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.3604G>A	chr17.hg19:g.66989177C>T	ENSP00000342216:p.Val1202Ile	0					ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I|ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I	p.V1202I	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		27	3815	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.3604G>A	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460288	0.12342	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86366	-2.11;-2.11	4.44	-1.35	0.09114	4.44	-1.35	0.09114	.	0.876717	0.09469	N	0.797878	T	0.71937	0.3399	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.008;0.014	T	0.54721	-0.8251	10	0.13853	T	0.58	.	4.1642	0.10298	0.156:0.2935:0.4568:0.0936	.	1202;1202	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1202;1147;1202	ENSP00000342216:V1202I;ENSP00000359767:V1202I	ENSP00000342216:V1202I	V	-	1	0	0	ABCA9	64500772	64500772	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.769000	0.04710	-0.039000	0.13602	0.491000	0.48974	GTA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_172386			42	42		205	201	1		1	0		0	0	65	0		1	9.372688e-01	0	0	0	25	0	42	205
ABCA9	10350	broad.mit.edu	37	17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1088					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					AAATATAATCCATTATTTGCA	0.363																																						ENST00000340001.4	1.000000	0.620000	1	7.300000e-01	0.870000	0.867832	0.870000	1.000000																										0				91						c.(3262-3264)atG>atA		ATP-binding cassette, sub-family A (ABC1), member 9							65.0	75.0	71.0					17																	67004260		2203	4299	6502	SO:0001583	missense	10350	0	0					g.chr17:67004260C>T	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.3264G>A	chr17.hg19:g.67004260C>T	ENSP00000342216:p.Met1088Ile	0					ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA	p.M1088I	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		24	3475	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.3264G>A	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516910	0.00151	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84730	-1.89;-1.89	4.8	-0.6	0.11642	4.8	-0.6	0.11642	.	0.807251	0.10785	N	0.634426	T	0.67988	0.2952	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.50242	-0.8851	10	0.07813	T	0.8	.	0.9723	0.01418	0.3544:0.323:0.1349:0.1877	.	1088;1088	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1088;1071;1088;1083	ENSP00000342216:M1088I;ENSP00000359767:M1088I	ENSP00000342216:M1088I	M	-	3	0	0	ABCA9	64515855	64515855	0.001000	0.12720	0.452000	0.26994	0.001000	0.01503	0.311000	0.19380	0.158000	0.19367	-0.309000	0.09137	ATG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-3.075754	1	0.170000	NM_172386			37	37		476	472	0		1	0		0	0	121	0		1	2.768715e-01	0	0	0	14	0	37	476
ABCA9	10350	broad.mit.edu	37	17	67012395	67012395	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9_ENST00000370732.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1013					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TATACTTACTTCAAAAAATGT	0.303																																						ENST00000340001.4	1.000000	0.800000	1	9.800000e-01	0.990000	0.982835	0.990000	1.000000																										0				91						c.(3037-3039)gAa>gGa		ATP-binding cassette, sub-family A (ABC1), member 9							73.0	75.0	74.0					17																	67012395		2203	4300	6503	SO:0001630	splice_region_variant	10350	0	0					g.chr17:67012395T>C	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.3039+1A>G	chr17.hg19:g.67012395T>C		0					ABCA9_ENST00000370732.2_Splice_Site_p.E1013G|ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA	p.E1013G	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		22	3249	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Splice_Site	SNP	ENST00000340001.4	1	0	hg19	c.3038A>G	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	T	2.146	-0.395629	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	5.1	1.41	0.22369	5.1	1.41	0.22369	.	0.315900	0.21806	N	0.068845	T	0.79488	0.4454	L	0.55834	1.745	0.19575	N	0.999967	B;B	0.12013	0.004;0.005	B;B	0.15052	0.007;0.012	T	0.61860	-0.6976	10	0.22706	T	0.39	.	4.7522	0.13066	0.2888:0.0834:0.0:0.6278	.	1013;1013	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	1013;996;1013;1008	ENSP00000342216:E1013G;ENSP00000359767:E1013G	ENSP00000342216:E1013G	E	-	2	0	0	ABCA9	64523990	64523990	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.336000	0.07863	0.274000	0.22072	-0.468000	0.05107	GAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_172386	Missense_Mutation		27	26		246	238	1		1	0		0	0	76	0		1	5.818145e-01	0	0	0	19	0	27	246
ABCA9	10350	broad.mit.edu	37	17	67016648	67016648	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67016648A>G	ENST00000340001.4	-	19	2692	c.2481T>C	c.(2479-2481)tcT>tcC	p.S827S	ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9_ENST00000370732.2_Silent_p.S827S|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	827					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					CGTGGAAGGAAGACAAAACTT	0.403																																						ENST00000340001.4	1.000000	0.160000	4.400000e-01	2.300000e-01	0.310000	0.375389	0.310000	0.290000																										0				91						c.(2479-2481)tcT>tcC		ATP-binding cassette, sub-family A (ABC1), member 9							117.0	105.0	109.0					17																	67016648		2203	4300	6503	SO:0001819	synonymous_variant	10350	0	0					g.chr17:67016648A>G	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.2481T>C	chr17.hg19:g.67016648A>G		0					ABCA9_ENST00000370732.2_Silent_p.S827S|ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9-AS1_ENST00000458677.1_RNA	p.S827S	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		19	2692	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	1	1	hg19	c.2481T>C	CCDS11681.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.073858	1	0.170000	NM_172386			13	13		509	504	0		1	0		0	0	101	0		9.995056e-01	6.904724e-02	0	0	0	16	0	13	509
ABCA9	10350	broad.mit.edu	37	17	67020491	67020491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	715	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					CATTCAGATGCAAACTAACAT	0.303																																						ENST00000340001.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994856	0.990000	1.000000																										0				91						c.(2143-2145)ttG>ttA		ATP-binding cassette, sub-family A (ABC1), member 9							34.0	30.0	31.0					17																	67020491		2201	4295	6496	SO:0001819	synonymous_variant	10350	0	0					g.chr17:67020491C>T	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.2145G>A	chr17.hg19:g.67020491C>T		0					ABCA9_ENST00000370732.2_Silent_p.L715L|ABCA9_ENST00000453985.2_Silent_p.L715L	p.L715L	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		17	2356	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	0	1	hg19	c.2145G>A	CCDS11681.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	25		25	28	1	2.060000	-8.967150	1	0.170000	NM_172386			13	12		83	76	0		1	0		0	0	25	0		9.993992e-01	6.618642e-01	0	0	0	16	0	13	83
ABCA9	10350	broad.mit.edu	37	17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					GCACACTTCAGCTTCCCATTG	0.393																																						ENST00000340001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(2080-2082)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							230.0	220.0	224.0					17																	67022579		2203	4300	6503	SO:0001583	missense	10350	0	0					g.chr17:67022579G>T	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.2080C>A	chr17.hg19:g.67022579G>T	ENSP00000342216:p.Leu694Met	0					ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M|ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M	p.L694M	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		16	2291	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.2080C>A	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007234	0.54361	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94330	-3.4;-3.4	5.43	4.47	0.54385	5.43	4.47	0.54385	ABC transporter-like (1);	0.000000	0.37857	N	0.001907	D	0.95456	0.8524	L	0.57536	1.79	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95684	0.8734	10	0.87932	D	0	.	13.0931	0.59176	0.0782:0.0:0.9218:0.0	.	694;694	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	694;677;694;689	ENSP00000342216:L694M;ENSP00000359767:L694M	ENSP00000342216:L694M	L	-	1	2	2	ABCA9	64534174	64534174	0.857000	0.29778	0.987000	0.45799	0.321000	0.28281	1.123000	0.31308	1.437000	0.47472	0.655000	0.94253	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	0	0	1		2	2	2	0		0	0	266		266	266	1	2.060000	-20.000000	1	0.170000	NM_172386			237	231		978	957	1		1	0		0	0	266	0		1	9.777601e-01	0	0	0	27	0	237	978
TEKT1	83659	broad.mit.edu	37	17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1000-1002)caA>caC		tektin 1							225.0	202.0	210.0					17																	6704113		2203	4300	6503	SO:0001583	missense	83659	0	0					g.chr17:6704113T>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1002A>C	chr17.hg19:g.6704113T>G	ENSP00000341346:p.Gln334His	0		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	p.Q334H	NM_053285.1	NP_444515.1	1	2	3	2.017774	Q969V4	TEKT1_HUMAN		7	1131	-		Myeloproliferative disorder(207;0.0255)	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	1	1	hg19	c.1002A>C	CCDS11083.1	1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667815	0.29604	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03772	3.81;3.81	5.85	2.82	0.32997	5.85	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	M	0.69248	2.105	0.51233	D	0.99991	B	0.23990	0.095	B	0.34873	0.191	T	0.09207	-1.0685	10	0.34782	T	0.22	.	10.0039	0.41946	0.0:0.778:0.0:0.222	.	334	Q969V4	TEKT1_HUMAN	H	334;188	ENSP00000341346:Q334H;ENSP00000444142:Q188H	ENSP00000341346:Q334H	Q	-	3	2	2	TEKT1	6644837	6644837	0.835000	0.29415	0.781000	0.31783	0.005000	0.04900	0.516000	0.22817	0.495000	0.27882	-0.789000	0.03336	CAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_053285			154	153		672	663	1		1			0	0	156	0		1	0	0	0	0	0	0	154	672
ABCA9	10350	broad.mit.edu	37	17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	401					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					AAAAGAGTAGCTATTATGAGG	0.323																																						ENST00000340001.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.990698	0.990000	1.000000																										0				91						c.(1201-1203)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 9							112.0	124.0	120.0					17																	67029942		2203	4298	6501	SO:0001583	missense	10350	0	0					g.chr17:67029942C>T	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.1201G>A	chr17.hg19:g.67029942C>T	ENSP00000342216:p.Ala401Thr	0					ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T|ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T	p.A401T	NM_080283.3	NP_525022.2	1	2	3	2.013100	Q8IUA7	ABCA9_HUMAN		9	1412	-	Breast(10;1.47e-12)		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	1	1	hg19	c.1201G>A	CCDS11681.1	1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899461	0.52227	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.53	3.54	0.40534	4.53	3.54	0.40534	.	0.000000	0.44688	D	0.000431	D	0.89364	0.6694	M	0.71036	2.16	0.09310	N	1	D;P	0.59767	0.986;0.56	P;P	0.61201	0.885;0.593	T	0.79711	-0.1689	10	0.33940	T	0.23	.	6.2299	0.20728	0.2849:0.6186:0.0:0.0965	.	401;401	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	401;384;401;396	ENSP00000342216:A401T;ENSP00000359767:A401T	ENSP00000342216:A401T	A	-	1	0	0	ABCA9	64541537	64541537	0.005000	0.15991	0.055000	0.19348	0.031000	0.12232	0.432000	0.21461	2.243000	0.73865	0.603000	0.83216	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-16.014990	1	0.170000	NM_172386			53	53		496	486	1		1	0		0	0	97	0		1	5.040806e-01	0	0	0	17	0	53	496
ABCA6	23460	broad.mit.edu	37	17	67106975	67106975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67106975T>C	ENST00000284425.2	-	17	2413	c.2239A>G	c.(2239-2241)Act>Gct	p.T747A		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	747					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					AGTGGCAAAGTATATACAAGC	0.294																																						ENST00000284425.2	1.000000	0.180000	7.900000e-01	3.000000e-01	0.480000	0.538610	0.480000	0.420000																										0				82						c.(2239-2241)Act>Gct		ATP-binding cassette, sub-family A (ABC1), member 6							87.0	85.0	85.0					17																	67106975		2202	4300	6502	SO:0001583	missense	23460	3	121306	32				g.chr17:67106975T>C	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.2239A>G	chr17.hg19:g.67106975T>C	ENSP00000284425:p.Thr747Ala	0						p.T747A	NM_080284.2	NP_525023.2	1	2	3	2.013100	Q8N139	ABCA6_HUMAN		17	2413	-	Breast(10;5.65e-12)		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	0	1	hg19	c.2239A>G	CCDS11683.1	0	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924235	0.34002	.	.	ENSG00000154262	ENST00000284425	T	0.62639	0.01	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.257291	0.26828	N	0.022288	T	0.58977	0.2160	M	0.68317	2.08	0.80722	D	1	B	0.21225	0.053	B	0.25291	0.059	T	0.57069	-0.7874	10	0.33940	T	0.23	.	10.1012	0.42507	0.0:0.0817:0.0:0.9183	.	747	Q8N139	ABCA6_HUMAN	A	747	ENSP00000284425:T747A	ENSP00000284425:T747A	T	-	1	0	0	ABCA6	64618570	64618570	0.000000	0.05858	0.997000	0.53966	0.666000	0.39218	0.058000	0.14301	2.071000	0.62044	0.455000	0.32223	ACT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-8.263186	1	0.170000	NM_080284			5	5		132	130	0		1	0		0	0	17	0		9.362938e-01	9.854803e-02	0	0	0	12	0	5	132
ABCA6	23460	broad.mit.edu	37	17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	652	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)			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)					GGCTCCACACTTGATCTCTGG	0.413																																						ENST00000284425.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1954-1956)caA>caC		ATP-binding cassette, sub-family A (ABC1), member 6							81.0	76.0	77.0					17																	67109448		2203	4300	6503	SO:0001583	missense	23460	0	0					g.chr17:67109448T>G	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.1956A>C	chr17.hg19:g.67109448T>G	ENSP00000284425:p.Gln652His	0						p.Q652H	NM_080284.2	NP_525023.2	1	2	3	2.013100	Q8N139	ABCA6_HUMAN		15	2130	-	Breast(10;5.65e-12)		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	1	1	hg19	c.1956A>C	CCDS11683.1	1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071542	0.08436	.	.	ENSG00000154262	ENST00000284425	D	0.93763	-3.28	4.93	3.85	0.44370	4.93	3.85	0.44370	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.061280	0.07388	N	0.888512	D	0.87977	0.6314	L	0.31804	0.96	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.77464	-0.2578	10	0.27082	T	0.32	.	6.0	0.19515	0.0:0.0892:0.2722:0.6386	.	652	Q8N139	ABCA6_HUMAN	H	652	ENSP00000284425:Q652H	ENSP00000284425:Q652H	Q	-	3	2	2	ABCA6	64621043	64621043	0.001000	0.12720	0.024000	0.17045	0.088000	0.18126	-0.164000	0.09983	1.015000	0.39444	0.523000	0.50628	CAA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_080284			50	49		185	184	1		1	0		0	0	45	0		1	9.810606e-01	0	0	0	26	0	50	185
ABCA6	23460	broad.mit.edu	37	17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	552	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)			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)					TTCTGATTTCCTCCAAGTCTT	0.328																																						ENST00000284425.2	1.000000	0.360000	7.900000e-01	4.600000e-01	0.590000	0.630060	0.590000	0.570000																										0				82						c.(1654-1656)gaG>gaT		ATP-binding cassette, sub-family A (ABC1), member 6							94.0	88.0	90.0					17																	67111029		2203	4300	6503	SO:0001583	missense	23460	0	0					g.chr17:67111029C>A	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.1656G>T	chr17.hg19:g.67111029C>A	ENSP00000284425:p.Glu552Asp	0						p.E552D	NM_080284.2	NP_525023.2	1	2	3	2.013100	Q8N139	ABCA6_HUMAN		13	1830	-	Breast(10;5.65e-12)		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	1	1	hg19	c.1656G>T	CCDS11683.1	0	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569986	0.45798	.	.	ENSG00000154262	ENST00000284425	D	0.94537	-3.45	4.87	3.9	0.45041	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229900	0.30051	N	0.010528	D	0.86003	0.5829	N	0.04746	-0.17	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.79208	-0.1898	10	0.29301	T	0.29	.	5.1731	0.15120	0.0:0.7539:0.0:0.2461	.	552	Q8N139	ABCA6_HUMAN	D	552	ENSP00000284425:E552D	ENSP00000284425:E552D	E	-	3	2	2	ABCA6	64622624	64622624	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.638000	0.05452	2.686000	0.91538	0.650000	0.86243	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.142702	1	0.170000	NM_080284			18	17		355	350	0		1	0		0	0	54	0		9.999807e-01	2.508010e-01	0	0	0	19	0	18	355
ABCA6	23460	broad.mit.edu	37	17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	448					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					ATAACCTTAGCATTAGTCCTT	0.373																																						ENST00000284425.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1342-1344)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 6							112.0	108.0	109.0					17																	67119474		2203	4300	6503	SO:0001583	missense	23460	0	0					g.chr17:67119474C>T	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.1342G>A	chr17.hg19:g.67119474C>T	ENSP00000284425:p.Ala448Thr	0						p.A448T	NM_080284.2	NP_525023.2	1	2	3	2.013100	Q8N139	ABCA6_HUMAN		10	1516	-	Breast(10;5.65e-12)		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	1	1	hg19	c.1342G>A	CCDS11683.1	1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285178	0.05605	.	.	ENSG00000154262	ENST00000284425	D	0.86562	-2.14	4.12	-2.43	0.06522	4.12	-2.43	0.06522	.	1.589470	0.03812	N	0.266052	T	0.71995	0.3406	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56068	-0.8040	10	0.15499	T	0.54	.	1.2143	0.01911	0.1465:0.263:0.1367:0.4539	.	448	Q8N139	ABCA6_HUMAN	T	448	ENSP00000284425:A448T	ENSP00000284425:A448T	A	-	1	0	0	ABCA6	64631069	64631069	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.144000	0.10280	-0.513000	0.06496	-0.264000	0.10439	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_080284			45	44		208	203	1		1	0		0	0	42	0		1	6.592687e-01	0	0	0	12	0	45	208
ABCA10	10349	broad.mit.edu	37	17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	160					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TTAAATTTTCCTCTTTCCCTT	0.318																																						ENST00000269081.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(478-480)Gga>Tga		ATP-binding cassette, sub-family A (ABC1), member 10							59.0	65.0	63.0					17																	67215738		2203	4298	6501	SO:0001587	stop_gained	10349	0	0					g.chr17:67215738C>A	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.478G>T	chr17.hg19:g.67215738C>A	ENSP00000269081:p.Gly160*	0					ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	p.G160*	NM_080282.3	NP_525021.3	1	2	3	2.013100	Q8WWZ4	ABCAA_HUMAN		7	1387	-	Breast(10;6.95e-12)		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	0	1	hg19	c.478G>T	CCDS11684.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.326935	0.97476	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.73	0.093	0.14474	3.73	0.093	0.14474	.	0.456322	0.15526	U	0.257796	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9642	0.09424	0.0:0.2211:0.371:0.408	.	.	.	.	X	160	.	ENSP00000269081:G160X	G	-	1	0	0	ABCA10	64727333	64727333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.211000	0.10124	-1.328000	0.01277	GGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.687642	1	0.170000	NM_080282			71	70		265	262	1		1	0		0	0	77	0		1	4.587108e-02	0	0	0	2	0	71	265
ABCA5	23461	broad.mit.edu	37	17	67266820	67266820	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000588877.1_Silent_p.S988S|ABCA5_ENST00000392677.2_Silent_p.S989S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	988					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)			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)	GATAGTAGTTACTAATGATAT	0.294																																						ENST00000392676.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2962-2964)agT>agC		ATP-binding cassette, sub-family A (ABC1), member 5	Tacrolimus(DB00864)						92.0	104.0	100.0					17																	67266820		2201	4268	6469	SO:0001819	synonymous_variant	23461	0	0					g.chr17:67266820A>G	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.2964T>C	chr17.hg19:g.67266820A>G		0					ABCA5_ENST00000392677.2_Silent_p.S989S|ABCA5_ENST00000588877.1_Silent_p.S988S	p.S988S			1	2	3	2.013100	Q8WWZ7	ABCA5_HUMAN		22	3028	-	Breast(10;3.72e-11)		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	1	1	hg19	c.2964T>C	CCDS11685.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_018672			121	120		491	481	1		1	1		0	0	131	0		1	7.589414e-01	0	2	0	11	0	121	491
ABCA5	23461	broad.mit.edu	37	17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S|ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	848					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)			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)	TGAAACTTTGCTATTGTATAC	0.353																																						ENST00000392676.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				54						c.(2542-2544)Gca>Tca		ATP-binding cassette, sub-family A (ABC1), member 5	Tacrolimus(DB00864)						82.0	74.0	77.0					17																	67273834		2202	4298	6500	SO:0001583	missense	23461	0	0					g.chr17:67273834C>A	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.2542G>T	chr17.hg19:g.67273834C>A	ENSP00000376443:p.Ala848Ser	0					ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S|ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S	p.A848S			1	2	3	2.013100	Q8WWZ7	ABCA5_HUMAN		19	2606	-	Breast(10;3.72e-11)		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	1	1	hg19	c.2542G>T	CCDS11685.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316960	0.81469	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88046	-2.32;-2.33	5.73	4.74	0.60224	5.73	4.74	0.60224	.	0.085848	0.49916	D	0.000123	D	0.88411	0.6429	M	0.84948	2.725	0.50632	D	0.99988	P;B	0.36162	0.54;0.405	B;B	0.37346	0.247;0.125	D	0.87949	0.2722	9	.	.	.	.	14.6363	0.68692	0.0:0.9248:0.0:0.0752	.	848;848	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	848	ENSP00000376444:A848S;ENSP00000376443:A848S	.	A	-	1	0	0	ABCA5	64785429	64785429	1.000000	0.71417	0.936000	0.37596	0.999000	0.98932	3.880000	0.56145	2.861000	0.98227	0.655000	0.94253	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_018672			39	37		188	185	1		1	1		0	0	57	0		1	7.868810e-01	0	7	0	9	0	39	188
ABCA5	23461	broad.mit.edu	37	17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	616	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)	TTTGACCACCACTTAATTTTT	0.308																																						ENST00000392676.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1846-1848)agT>agG		ATP-binding cassette, sub-family A (ABC1), member 5	Tacrolimus(DB00864)						97.0	95.0	96.0					17																	67285372		2203	4298	6501	SO:0001583	missense	23461	0	0					g.chr17:67285372A>C	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.1848T>G	chr17.hg19:g.67285372A>C	ENSP00000376443:p.Ser616Arg	0					ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R|ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R	p.S616R			1	2	3	2.013100	Q8WWZ7	ABCA5_HUMAN		14	1912	-	Breast(10;3.72e-11)		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	1	1	hg19	c.1848T>G	CCDS11685.1	1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673074	0.67928	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.74002	-0.8;-0.8	5.19	2.89	0.33648	5.19	2.89	0.33648	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.90202	0.6937	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.939;0.993	D	0.88819	0.3297	9	.	.	.	.	8.3706	0.32412	0.693:0.0:0.307:0.0	.	616;616	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	616	ENSP00000376444:S616R;ENSP00000376443:S616R	.	S	-	3	2	2	ABCA5	64796967	64796967	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.949000	0.29109	0.281000	0.22233	0.397000	0.26171	AGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_018672			56	55		202	199	1		1	1		0	0	42	0		1	9.058257e-01	0	2	0	15	0	56	202
ABCA5	23461	broad.mit.edu	37	17	67299047	67299047	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000588877.1_Splice_Site_p.V311I|ABCA5_ENST00000392677.2_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	311					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)			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)	GCAAAAAATACCTATAAAATA	0.274																																						ENST00000392676.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999889	0.990000	1.000000																										0				54						c.(931-933)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 5	Tacrolimus(DB00864)						16.0	16.0	16.0					17																	67299047		2180	4269	6449	SO:0001630	splice_region_variant	23461	0	0					g.chr17:67299047C>T	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.931-1G>A	chr17.hg19:g.67299047C>T		0					ABCA5_ENST00000392677.2_Splice_Site_p.V311I|ABCA5_ENST00000588877.1_Splice_Site_p.V311I	p.V311I			1	2	3	2.013100	Q8WWZ7	ABCA5_HUMAN		8	995	-	Breast(10;3.72e-11)		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	1	0	hg19	c.931G>A	CCDS11685.1	1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010767	0.07727	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.80738	-1.41;-1.41	5.08	2.02	0.26589	5.08	2.02	0.26589	.	0.118422	0.37304	N	0.002146	T	0.65471	0.2694	N	0.25094	0.71	0.47737	D	0.999501	B;B	0.09022	0.0;0.002	B;B	0.18561	0.003;0.022	T	0.51694	-0.8673	9	.	.	.	.	10.4211	0.44350	0.0:0.7868:0.0:0.2132	.	311;311	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	311	ENSP00000376444:V311I;ENSP00000376443:V311I	.	V	-	1	0	0	ABCA5	64810642	64810642	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	3.100000	0.50275	0.259000	0.21709	0.655000	0.94253	GTA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_018672	Missense_Mutation		18	17		79	78	1		1	0		0	0	19	0		9.999888e-01	5.309962e-01	0	1	0	8	0	18	79
TEKT1	83659	broad.mit.edu	37	17	6733612	6733612	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000338694.2	-	2	213	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	28						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468																																						ENST00000338694.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.992080	0.990000	1.000000																										0				20						c.(82-84)gaC>gaT		tektin 1							106.0	97.0	100.0					17																	6733612		2203	4300	6503	SO:0001819	synonymous_variant	83659	2	121412	35				g.chr17:6733612G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.84C>T	chr17.hg19:g.6733612G>A		0					TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	p.D28D	NM_053285.1	NP_444515.1	1	2	3	2.017774	Q969V4	TEKT1_HUMAN		2	213	-		Myeloproliferative disorder(207;0.0255)	D3DTM7	Silent	SNP	ENST00000338694.2	1	0	hg19	c.84C>T	CCDS11083.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	1	0	0		2	2	2	0		0	0	59		59	55	1	2.060000	-12.742500	1	0.170000	NM_053285			33	32		286	279	0		1			0	0	59	0		1	0	0	0	0	0	0	33	286
ABCA5	23461	broad.mit.edu	37	17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T|ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	63					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)			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)	GAGTTCTATATTAGGCACTTC	0.289																																						ENST00000392676.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(187-189)aAt>aCt		ATP-binding cassette, sub-family A (ABC1), member 5	Tacrolimus(DB00864)						83.0	87.0	86.0					17																	67309352		2202	4297	6499	SO:0001583	missense	23461	0	0					g.chr17:67309352T>G	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.188A>C	chr17.hg19:g.67309352T>G	ENSP00000376443:p.Asn63Thr	0					ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T|ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T	p.N63T			1	2	3	2.013100	Q8WWZ7	ABCA5_HUMAN		3	252	-	Breast(10;3.72e-11)		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	1	1	hg19	c.188A>C	CCDS11685.1	1	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.973050	0.02215	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87571	-2.27;-2.27	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.185380	0.37715	N	0.001965	T	0.74253	0.3692	N	0.08118	0	0.27216	N	0.959792	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.58999	-0.7536	9	.	.	.	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	63;63	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	63	ENSP00000376444:N63T;ENSP00000376443:N63T	.	N	-	2	0	0	ABCA5	64820947	64820947	0.995000	0.38212	0.826000	0.32828	0.580000	0.36256	3.619000	0.54196	1.879000	0.54435	0.477000	0.44152	AAT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_018672			48	48		166	162	1		1	1		0	0	23	0		1	4.935301e-01	0	4	0	3	0	48	166
MAP2K6	5608	broad.mit.edu	37	17	67513640	67513640	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6						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)			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)					CTCTCTTGCAGAACTTTGAGG	0.473																																						ENST00000590474.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999937	0.990000	1.000000																										0				20						c.e4-1		mitogen-activated protein kinase kinase 6							75.0	63.0	67.0					17																	67513640		2203	4300	6503	SO:0001630	splice_region_variant	5608	0	0					g.chr17:67513640G>A	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.133-1G>A	chr17.hg19:g.67513640G>A		0					MAP2K6_ENST00000589647.1_Splice_Site		NM_002758.3	NP_002749.2	1	2	3	2.013100	P52564	MP2K6_HUMAN		4	419	+	Breast(10;6.05e-10)			Splice_Site	SNP	ENST00000590474.1	1	1	hg19		CCDS11686.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520818	0.85495	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAP2K6	65025235	65025235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_002758	Intron		25	24		129	124	0		1	0		0	0	34	0		9.999999e-01	0	0	1	0	0	0	25	129
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	rs146595343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	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.R254L(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)					GCCATCCTTCGATTTCCCTAT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.0					ENST00000590474.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R254L(1)	central_nervous_system(1)	20						c.(760-762)cGa>cAa		mitogen-activated protein kinase kinase 6		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100.0	101.0	100.0		761	6.2	1.0	17	dbSNP_134	100	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MAP2K6	NM_002758.3	43	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign	254/335	67522730	6,13000	2203	4300	6503	SO:0001583	missense	5608	41	121412	50				g.chr17:67522730G>A	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.761G>A	chr17.hg19:g.67522730G>A	ENSP00000468348:p.Arg254Gln	0					MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	p.R254Q	NM_002758.3	NP_002749.2	1	2	3	2.013100	P52564	MP2K6_HUMAN		10	1048	+	Breast(10;6.05e-10)			Missense_Mutation	SNP	ENST00000590474.1	1	1	hg19	c.761G>A	CCDS11686.1	1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453096	0.63290	4.54E-4	4.65E-4	ENSG00000108984	ENST00000359094	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061266	0.64402	D	0.000007	T	0.44623	0.1302	N	0.13168	0.305	0.49483	D	0.999798	P	0.43826	0.818	P	0.45310	0.476	T	0.22626	-1.0211	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	Q	254	.	.	R	+	2	0	0	MAP2K6	65034325	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.031846	1	0.170000	NM_002758			86	86		375	365	1		1	1		0	0	77	0		1	7.973412e-01	0	6	0	9	0	86	375
KCNJ16	3773	broad.mit.edu	37	17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G	rs199635549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000589377.1	+	2	236	c.73A>G	c.(73-75)Att>Gtt	p.I25V	KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000585558.1_Missense_Mutation_p.I60V	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	25					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)			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)					GCCAGAGCACATTATAGCTGA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		19982	0.002		0.0	False		,,,				2504	0.0					ENST00000589377.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(73-75)Att>Gtt		potassium inwardly-rectifying channel, subfamily J, member 16							131.0	123.0	125.0					17																	68128301		2203	4300	6503	SO:0001583	missense	3773	19	121412	46				g.chr17:68128301A>G	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.73A>G	chr17.hg19:g.68128301A>G	ENSP00000465967:p.Ile25Val	0					KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000585558.1_Missense_Mutation_p.I60V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	p.I25V	NM_001270422.1	NP_001257351.1	1	2	3	2.013100	Q9NPI9	KCJ16_HUMAN		2	236	+	Breast(10;2.96e-09)			Missense_Mutation	SNP	ENST00000589377.1	1	1	hg19	c.73A>G	CCDS11687.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.321	-0.599456	0.03744	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88124	-2.34;-2.34;-2.34	5.99	-8.19	0.01049	5.99	-8.19	0.01049	.	1.981030	0.01750	N	0.029873	T	0.70815	0.3267	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	0.62793	-0.6779	9	.	.	.	.	9.4275	0.38590	0.2183:0.0992:0.5854:0.0971	.	25;25	A8K434;Q9NPI9	.;IRK16_HUMAN	V	25	ENSP00000283936:I25V;ENSP00000376439:I25V;ENSP00000376438:I25V	.	I	+	1	0	0	KCNJ16	65639896	65639896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.825000	0.01207	-0.248000	0.11899	ATT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	1	0	0		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_018658			114	113		389	383	1		1	0		0	0	106	0		1	9.049686e-01	0	0	0	16	0	114	389
KCNJ16	3773	broad.mit.edu	37	17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T	rs375990976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000589377.1	+	2	266	c.103C>T	c.(103-105)Cga>Tga	p.R35*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R70*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	35					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)			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)					AGCAAGAAGACGATTACTTCA	0.453																																						ENST00000589377.1	1.000000	0.600000	1	7.100000e-01	0.830000	0.840516	0.830000	1.000000																										0				32						c.(103-105)Cga>Tga		potassium inwardly-rectifying channel, subfamily J, member 16		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	190.0	174.0	180.0		103,103,103	4.0	0.1	17		180	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	35/419,35/419,35/419	68128331	1,13005	2203	4300	6503	SO:0001587	stop_gained	3773	1	121412	39				g.chr17:68128331C>T	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.103C>T	chr17.hg19:g.68128331C>T	ENSP00000465967:p.Arg35*	0					KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R70*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	p.R35*	NM_001270422.1	NP_001257351.1	1	2	3	2.013100	Q9NPI9	KCJ16_HUMAN		2	266	+	Breast(10;2.96e-09)			Nonsense_Mutation	SNP	ENST00000589377.1	0	1	hg19	c.103C>T	CCDS11687.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.347020	0.95807	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.99	3.98	0.46160	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2882	0.73846	0.2567:0.7432:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	2	KCNJ16	65639926	65639926	0.638000	0.27225	0.057000	0.19452	0.005000	0.04900	1.272000	0.33109	0.847000	0.35167	-0.127000	0.14921	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	1	0	0		2	2	2	0		0	0	134		134	132	1	2.060000	-9.377830	1	0.170000	NM_018658			42	42		566	556	0		1	0		0	0	134	0		1	4.390198e-01	0	0	0	21	0	42	566
BCL6B	255877	broad.mit.edu	37	17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642																																						ENST00000293805.5	1.000000	0.920000	1	9.900000e-01	0.990000	0.994934	0.990000	1.000000																										0				1						c.(295-297)tCg>tTg		B-cell CLL/lymphoma 6, member B							56.0	64.0	61.0					17																	6927518		2018	4173	6191	SO:0001583	missense	255877	0	0					g.chr17:6927518C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.296C>T	chr17.hg19:g.6927518C>T	ENSP00000293805:p.Ser99Leu	0					BCL6B_ENST00000572216.1_Intron	p.S99L	NM_181844.3	NP_862827	1	2	3	2.017774	Q8N143	BCL6B_HUMAN		3	388	+			Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	1	1	hg19	c.296C>T	CCDS42248.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.528841	0.96446	.	.	ENSG00000161940	ENST00000293805	T	0.71461	-0.57	5.18	5.18	0.71444	5.18	5.18	0.71444	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.95504	3.68	0.48830	D	0.999714	D	0.89917	1.0	D	0.97110	1.0	D	0.91724	0.5391	10	0.87932	D	0	.	16.2254	0.82286	0.0:1.0:0.0:0.0	.	99	Q8N143	BCL6B_HUMAN	L	99	ENSP00000293805:S99L	ENSP00000293805:S99L	S	+	2	0	0	BCL6B	6868242	6868242	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	7.174000	0.77620	2.691000	0.91804	0.563000	0.77884	TCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-19.999940	1	0.170000	NM_181844			90	89		857	838	0		1	0		0	0	147	0		1	4.606096e-01	0	0	0	16	0	90	857
SLC16A13	201232	broad.mit.edu	37	17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A	rs201987923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	123						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587																																						ENST00000308027.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(367-369)Gct>Act		solute carrier family 16, member 13							83.0	81.0	82.0					17																	6941494		2203	4300	6503	SO:0001583	missense	201232	1	121412	36				g.chr17:6941494G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.367G>A	chr17.hg19:g.6941494G>A	ENSP00000309751:p.Ala123Thr	0						p.A123T	NM_201566.2	NP_963860.1	1	2	3	2.017774	Q7RTY0	MOT13_HUMAN		3	675	+			A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	1	1	hg19	c.367G>A	CCDS11085.1	1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446434	0.12223	.	.	ENSG00000174327	ENST00000308027	T	0.57436	0.4	5.39	4.31	0.51392	5.39	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.159139	0.56097	N	0.000030	T	0.15176	0.0366	N	0.00864	-1.135	0.27525	N	0.951288	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.02654	T	1	.	3.697	0.08368	0.7016:0.0:0.1083:0.19	.	123	Q7RTY0	MOT13_HUMAN	T	123	ENSP00000309751:A123T	ENSP00000309751:A123T	A	+	1	0	0	SLC16A13	6882218	6882218	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.698000	0.47068	0.919000	0.36945	0.563000	0.77884	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000				73	70		327	323	1		1	1		0	0	70	0		1	9.940877e-01	0	16	0	22	0	73	327
SLC16A13	201232	broad.mit.edu	37	17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	155						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642																																						ENST00000308027.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(463-465)tTt>tGt		solute carrier family 16, member 13							66.0	70.0	69.0					17																	6941591		2203	4300	6503	SO:0001583	missense	201232	1	121412	29				g.chr17:6941591T>G	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.464T>G	chr17.hg19:g.6941591T>G	ENSP00000309751:p.Phe155Cys	0						p.F155C	NM_201566.2	NP_963860.1	1	2	3	2.017774	Q7RTY0	MOT13_HUMAN		3	772	+			A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	1	1	hg19	c.464T>G	CCDS11085.1	1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876462	0.72180	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.54	4.46	0.54185	5.54	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105795	0.64402	D	0.000003	T	0.73353	0.3576	M	0.87180	2.865	0.44807	D	0.997815	D	0.89917	1.0	D	0.85130	0.997	T	0.75889	-0.3158	10	0.87932	D	0	.	9.6037	0.39622	0.0:0.0831:0.0:0.9169	.	155	Q7RTY0	MOT13_HUMAN	C	155	ENSP00000309751:F155C	ENSP00000309751:F155C	F	+	2	0	0	SLC16A13	6882315	6882315	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.627000	0.83176	0.935000	0.37341	0.460000	0.39030	TTT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-20.000000	1	0.170000				72	70		341	326	1		1	1		0	0	78	0		1	9.779140e-01	0	7	0	24	0	72	341
ASGR2	433	broad.mit.edu	37	17	7012170	7012170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	ENST00000380952.2	-	3	426	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C|ASGR2_ENST00000446679.2_Silent_p.C35C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	54					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647																																						ENST00000380952.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				18						c.(160-162)tgC>tgT		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						51.0	39.0	43.0					17																	7012170		2203	4300	6503	SO:0001819	synonymous_variant	433	0	0					g.chr17:7012170G>A	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.162C>T	chr17.hg19:g.7012170G>A		0					ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	1	2	3	2.017774	P07307	ASGR2_HUMAN		3	426	-			A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	0	1	hg19	c.162C>T	CCDS32544.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_080914			21	21		81	79	0		1	0		0	0	14	0		9.999987e-01	2.879505e-01	0	0	0	5	0	21	81
ASGR2	433	broad.mit.edu	37	17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	12					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577																																						ENST00000380952.2	1.000000	0.620000	1	7.500000e-01	0.900000	0.885407	0.900000	1.000000																										0				18						c.(34-36)aGc>aTc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						143.0	118.0	126.0					17																	7017525		2203	4300	6503	SO:0001583	missense	433	0	0					g.chr17:7017525C>A	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.35G>T	chr17.hg19:g.7017525C>A	ENSP00000370339:p.Ser12Ile	0					ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	1	2	3	2.017774	P07307	ASGR2_HUMAN		2	299	-			A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	1	1	hg19	c.35G>T	CCDS32544.1	1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036924	0.19669	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.17691	5.55;2.26;5.55;2.26	3.59	1.37	0.22104	3.59	1.37	0.22104	.	0.553741	0.15021	N	0.284975	T	0.10809	0.0264	N	0.08118	0	0.23371	N	0.997814	P;D;P;P;P	0.53151	0.925;0.958;0.645;0.757;0.731	P;P;P;P;B	0.49451	0.611;0.563;0.46;0.544;0.395	T	0.13308	-1.0514	10	0.66056	D	0.02	.	5.1295	0.14903	0.0:0.2587:0.0:0.7413	.	12;12;12;12;12	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2	.;.;ASGR2_HUMAN;.;.	I	12	ENSP00000347140:S12I;ENSP00000254850:S12I;ENSP00000370339:S12I;ENSP00000405844:S12I	ENSP00000254850:S12I	S	-	2	0	0	ASGR2	6958249	6958249	0.899000	0.30636	0.905000	0.35620	0.174000	0.22865	0.538000	0.23160	0.268000	0.21939	-0.312000	0.09012	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-9.053733	1	0.170000	NM_080914			32	31		400	388	0		1	0		0	0	64	0		1	7.175364e-02	0	0	0	6	0	32	400
ASGR1	432	broad.mit.edu	37	17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000269299.3	-	5	742	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D76N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	115					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547																																						ENST00000269299.3	1.000000	0.440000	8.400000e-01	5.300000e-01	0.650000	0.689655	0.650000	0.640000																										0				10						c.(343-345)Gac>Aac		asialoglycoprotein receptor 1							207.0	174.0	185.0					17																	7080161		2203	4300	6503	SO:0001583	missense	432	0	0					g.chr17:7080161C>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.343G>A	chr17.hg19:g.7080161C>T	ENSP00000269299:p.Asp115Asn	0					ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D76N	p.D115N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	1	2	3	2.017774	P07306	ASGR1_HUMAN		5	742	-			I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	1	1	hg19	c.343G>A	CCDS11089.1	0	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760776	0.31137	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.43294	1.0;0.95	4.89	1.23	0.21249	4.89	1.23	0.21249	Hepatic lectin, N-terminal (1);	0.961393	0.08593	N	0.922639	T	0.35770	0.0943	M	0.62723	1.935	0.20196	N	0.99993	B	0.31625	0.332	B	0.27380	0.079	T	0.37033	-0.9723	10	0.66056	D	0.02	.	3.4939	0.07648	0.2051:0.544:0.0:0.2508	.	115	P07306	ASGR1_HUMAN	N	115;76	ENSP00000269299:D115N;ENSP00000370307:D76N	ENSP00000269299:D115N	D	-	1	0	0	ASGR1	7020885	7020885	0.237000	0.23815	0.075000	0.20258	0.470000	0.32858	0.841000	0.27613	0.167000	0.19631	0.462000	0.41574	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-3.317325	1	0.170000	NM_001671			28	24		493	455	0		1	0		0	0	92	0		9.999999e-01	0	0	0	0	1	0	28	493
DLG4	1742	broad.mit.edu	37	17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399506.2	-	7	754	c.563G>T	c.(562-564)aGc>aTc	p.S188I	DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399510.2_Missense_Mutation_p.S231I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	188	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TACATAGATGCTATTATCTCC	0.577																																						ENST00000399506.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				18						c.(562-564)aGc>aTc		discs, large homolog 4 (Drosophila)	Guanidine(DB00536)						103.0	97.0	99.0					17																	7106591		2031	4204	6235	SO:0001583	missense	1742	0	0					g.chr17:7106591C>A	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.563G>T	chr17.hg19:g.7106591C>A	ENSP00000382425:p.Ser188Ile	0					DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399510.2_Missense_Mutation_p.S231I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I	p.S188I			1	2	3	2.017774	P78352	DLG4_HUMAN		7	754	-			B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	1	1	hg19	c.563G>T		1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360385	0.82353	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.24	5.24	0.73138	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51924	0.1703	L	0.56340	1.77	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.986;0.97;0.988;0.961;0.999	D;D;D;D;D	0.83275	0.989;0.961;0.944;0.945;0.996	T	0.53308	-0.8457	9	0.87932	D	0	.	16.3121	0.82883	0.0:1.0:0.0:0.0	.	228;188;185;185;231	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	I	188;185;231;231;128;231;221;218	ENSP00000382425:S188I;ENSP00000307471:S185I;ENSP00000382428:S231I;ENSP00000388122:S218I	ENSP00000293813:S231I	S	-	2	0	0	DLG4	7047315	7047315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.484000	0.81180	2.447000	0.82792	0.557000	0.71058	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	1	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-20.000000	1	0.170000	NM_001365			27	26		148	145	1		1	1		0	0	25	0		1	9.809838e-01	0	2	0	36	0	27	148
KCNJ2	3759	broad.mit.edu	37	17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A	rs375605948		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	70					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGTACCTCGCAGACATCTT	0.522																																						ENST00000243457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(208-210)Gca>Aca		potassium inwardly-rectifying channel, subfamily J, member 2							216.0	156.0	176.0					17																	68171388		2203	4300	6503	SO:0001583	missense	3759	5	121412	41				g.chr17:68171388G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.208G>A	chr17.hg19:g.68171388G>A	ENSP00000243457:p.Ala70Thr	0					KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	p.A70T	NM_000891.2	NP_000882.1	1	2	3	2.013100	P63252	KCNJ2_HUMAN		2	591	+	Breast(10;1.64e-08)		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	1	1	hg19	c.208G>A	CCDS11688.1	1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004413	0.19199	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.66	5.66	0.87406	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.048397	0.85682	D	0.000000	D	0.88934	0.6572	L	0.35487	1.065	0.53005	D	0.999968	B	0.25743	0.133	B	0.26416	0.069	D	0.84807	0.0788	9	.	.	.	.	14.5682	0.68194	0.0:0.0:0.8539:0.1461	.	70	P63252	IRK2_HUMAN	T	70	ENSP00000441848:A70T;ENSP00000243457:A70T	.	A	+	1	0	0	KCNJ2	65682983	65682983	1.000000	0.71417	0.944000	0.38274	0.766000	0.43426	7.871000	0.87180	2.662000	0.90505	0.555000	0.69702	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_000891			86	86		376	371	1		1	0		0	0	89	0		1	5.234989e-01	0	0	0	9	0	86	376
COG1	9382	broad.mit.edu	37	17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	388					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATGTGGGAGTTACTTACC	0.507																																						ENST00000299886.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1162-1164)gAg>gTg		component of oligomeric golgi complex 1							111.0	103.0	106.0					17																	71196797		2203	4300	6503	SO:0001583	missense	9382	0	0					g.chr17:71196797A>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1163A>T	chr17.hg19:g.71196797A>T	ENSP00000299886:p.Glu388Val	0						p.E388V	NM_018714.2	NP_061184.1	1	2	3	2.013100	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	6	1243	+			Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	1	1	hg19	c.1163A>T	CCDS11692.1	1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969484	0.34754	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25749	1.78;1.78	5.53	3.26	0.37387	5.53	3.26	0.37387	.	0.454480	0.26424	N	0.024450	T	0.31040	0.0784	M	0.65975	2.015	0.52501	D	0.999954	P;P;P	0.49253	0.921;0.756;0.921	P;B;P	0.47744	0.556;0.372;0.556	T	0.02450	-1.1157	10	0.34782	T	0.22	-5.8888	8.2047	0.31446	0.7958:0.1345:0.0696:0.0	.	388;388;388	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	388	ENSP00000400111:E388V;ENSP00000299886:E388V	ENSP00000299886:E388V	E	+	2	0	0	COG1	68708392	68708392	1.000000	0.71417	0.446000	0.26920	0.759000	0.43091	4.832000	0.62759	0.369000	0.24510	0.460000	0.39030	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1	1	0	1		2	2	2	0		0	0	103		103	93	1	2.060000	-20.000000	1	0.170000				112	107		375	358	1		1	1		0	0	103	0		1	1	0	29	0	92	0	112	375
COG1	9382	broad.mit.edu	37	17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	452					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCAGGAACTTGAAAGCAGC	0.463																																						ENST00000299886.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1354-1356)cTt>cGt		component of oligomeric golgi complex 1							119.0	115.0	117.0					17																	71197321		2203	4300	6503	SO:0001583	missense	9382	0	0					g.chr17:71197321T>G		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1355T>G	chr17.hg19:g.71197321T>G	ENSP00000299886:p.Leu452Arg	0						p.L452R	NM_018714.2	NP_061184.1	1	2	3	2.013100	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	7	1435	+			Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	1	1	hg19	c.1355T>G	CCDS11692.1	1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368777	0.24771	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30182	1.54;1.54	5.28	4.17	0.49024	5.28	4.17	0.49024	.	0.126983	0.53938	N	0.000047	T	0.52853	0.1760	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.959;0.981;0.959	T	0.50931	-0.8769	10	0.29301	T	0.29	-13.324	12.3305	0.55038	0.0:0.0:0.1416:0.8584	.	452;452;452	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	452	ENSP00000400111:L452R;ENSP00000299886:L452R	ENSP00000299886:L452R	L	+	2	0	0	COG1	68708916	68708916	1.000000	0.71417	0.116000	0.21606	0.749000	0.42624	7.457000	0.80775	0.906000	0.36621	0.533000	0.62120	CTT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000				117	115		516	507	1		1	1		0	0	112	0		1	9.999997e-01	0	32	0	62	0	117	516
C17orf80	55028	broad.mit.edu	37	17	71232062	71232062	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000535032.2	+	2	554	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000426147.2_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.S147S|C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	147						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388																																						ENST00000535032.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(439-441)tcT>tcC		chromosome 17 open reading frame 80							77.0	81.0	80.0					17																	71232062		2202	4299	6501	SO:0001819	synonymous_variant	55028	0	0					g.chr17:71232062T>C	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.441T>C	chr17.hg19:g.71232062T>C		0					C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.S147S|C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S	p.S147S			1	2	3	2.013100	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	2	554	+			A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	1	1	hg19	c.441T>C	CCDS11694.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_017941			92	90		420	416	1		1	1		0	0	70	0		1	9.998363e-01	0	18	0	42	0	92	420
C17orf80	55028	broad.mit.edu	37	17	71232128	71232128	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000535032.2	+	2	620	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000426147.2_Silent_p.A169A|C17orf80_ENST00000359042.2_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	169						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403																																						ENST00000535032.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(505-507)gcT>gcC		chromosome 17 open reading frame 80							80.0	83.0	82.0					17																	71232128		2203	4300	6503	SO:0001819	synonymous_variant	55028	0	0					g.chr17:71232128T>C	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.507T>C	chr17.hg19:g.71232128T>C		0					C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000359042.2_Silent_p.A169A	p.A169A			1	2	3	2.013100	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	2	620	+			A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	1	1	hg19	c.507T>C	CCDS11694.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_017941			103	101		440	436	1		1	1		0	0	81	0		1	9.993153e-01	0	18	0	30	0	103	440
C17orf80	55028	broad.mit.edu	37	17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000535032.2	+	2	1047	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	312						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443																																						ENST00000535032.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				14						c.(934-936)Aat>Gat		chromosome 17 open reading frame 80							83.0	71.0	75.0					17																	71232555		2203	4300	6503	SO:0001583	missense	55028	0	0					g.chr17:71232555A>G	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.934A>G	chr17.hg19:g.71232555A>G	ENSP00000440551:p.Asn312Asp	0					C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D	p.N312D			1	2	3	2.013100	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	2	1047	+			A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	1	1	hg19	c.934A>G	CCDS11694.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513546	0.85389	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;D;T;T;D	0.84070	2.56;-1.8;2.56;2.75;-1.8	5.28	-0.487	0.12060	5.28	-0.487	0.12060	.	0.649385	0.14750	N	0.300635	D	0.83050	0.5170	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.986;0.976;0.986;0.999	P;P;P;D	0.64321	0.844;0.722;0.844;0.924	T	0.70193	-0.4939	10	0.18710	T	0.47	-8.5098	2.3039	0.04169	0.4772:0.2917:0.0892:0.1418	.	312;312;312;312	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	D	312	ENSP00000255557:N312D;ENSP00000351937:N312D;ENSP00000268942:N312D;ENSP00000396970:N312D;ENSP00000440551:N312D	ENSP00000255557:N312D	N	+	1	0	0	C17orf80	68744150	68744150	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	0.729000	0.26028	0.004000	0.14682	0.459000	0.35465	AAT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_017941			35	34		178	174	1		1	1		0	0	55	0		1	9.992338e-01	0	6	0	53	0	35	178
C17orf80	55028	broad.mit.edu	37	17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000535032.2	+	2	1528	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	472						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552																																						ENST00000535032.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1414-1416)tAc>tGc		chromosome 17 open reading frame 80							47.0	50.0	49.0					17																	71233036		2203	4300	6503	SO:0001583	missense	55028	0	0					g.chr17:71233036A>G	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.1415A>G	chr17.hg19:g.71233036A>G	ENSP00000440551:p.Tyr472Cys	0					C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C	p.Y472C			1	2	3	2.013100	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)	2	1528	+			A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	1	1	hg19	c.1415A>G	CCDS11694.1	1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.913766	0.72983	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.46758	D	0.000263	T	0.40909	0.1136	M	0.71581	2.175	0.40242	D	0.977972	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	0.37174	-0.9717	10	0.72032	D	0.01	-8.7091	13.2035	0.59782	1.0:0.0:0.0:0.0	.	472;472;472;472	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	C	472	ENSP00000255557:Y472C;ENSP00000351937:Y472C;ENSP00000268942:Y472C;ENSP00000396970:Y472C;ENSP00000440551:Y472C	ENSP00000255557:Y472C	Y	+	2	0	0	C17orf80	68744631	68744631	0.983000	0.35010	0.966000	0.40874	0.970000	0.65996	3.727000	0.54984	1.998000	0.58463	0.533000	0.62120	TAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_017941			46	45		228	220	1		1	1		0	0	63	0		1	9.922527e-01	0	12	0	28	0	46	228
DVL2	1856	broad.mit.edu	37	17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	669					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667																																						ENST00000005340.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2005-2007)cCg>cTg		dishevelled segment polarity protein 2							34.0	38.0	36.0					17																	7129389		2203	4300	6503	SO:0001583	missense	1856	2	121390	18				g.chr17:7129389G>A	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.2006C>T	chr17.hg19:g.7129389G>A	ENSP00000005340:p.Pro669Leu	0					DVL2_ENST00000575458.1_Missense_Mutation_p.P663L|MIR324_ENST00000362183.1_RNA	p.P669L	NM_004422.2	NP_004413.1	1	2	3	2.017774	O14641	DVL2_HUMAN		15	2288	-			D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	1	1	hg19	c.2006C>T	CCDS11091.1	1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193054	0.09599	.	.	ENSG00000004975	ENST00000005340	T	0.04275	3.66	5.74	3.6	0.41247	5.74	3.6	0.41247	Dishevelled C-terminal (1);	0.445516	0.24407	N	0.038790	T	0.02156	0.0067	N	0.08118	0	0.19575	N	0.999962	P;P	0.38110	0.618;0.618	B;B	0.27715	0.082;0.082	T	0.50092	-0.8868	10	0.25106	T	0.35	-4.3549	10.3068	0.43685	0.0:0.1472:0.7005:0.1523	.	663;669	B4DLQ0;O14641	.;DVL2_HUMAN	L	669	ENSP00000005340:P669L	ENSP00000005340:P669L	P	-	2	0	0	DVL2	7070113	7070113	1.000000	0.71417	0.523000	0.27875	0.974000	0.67602	4.992000	0.63889	1.396000	0.46663	0.561000	0.74099	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.875079	1	0.170000	NM_004422			79	77		295	289	1		1	1		0	0	52	0		1	1	0	40	0	86	0	79	295
DVL2	1856	broad.mit.edu	37	17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.P403S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	409					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612																																						ENST00000005340.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1225-1227)Cct>Tct		dishevelled segment polarity protein 2							63.0	62.0	62.0					17																	7130980		2203	4300	6503	SO:0001583	missense	1856	0	0					g.chr17:7130980G>A	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.1225C>T	chr17.hg19:g.7130980G>A	ENSP00000005340:p.Pro409Ser	0					DVL2_ENST00000575458.1_Missense_Mutation_p.P403S|DVL2_ENST00000574642.1_5'Flank	p.P409S	NM_004422.2	NP_004413.1	1	2	3	2.017774	O14641	DVL2_HUMAN		11	1507	-			D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	1	1	hg19	c.1225C>T	CCDS11091.1	1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555622	0.45487	.	.	ENSG00000004975	ENST00000005340	T	0.05855	3.38	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.121077	0.56097	D	0.000032	T	0.09291	0.0229	L	0.55213	1.73	0.42008	D	0.990925	P;B	0.38711	0.643;0.435	B;B	0.42422	0.387;0.157	T	0.13656	-1.0501	10	0.30078	T	0.28	-11.0428	10.2236	0.43212	0.0:0.0:0.802:0.198	.	403;409	B4DLQ0;O14641	.;DVL2_HUMAN	S	409	ENSP00000005340:P409S	ENSP00000005340:P409S	P	-	1	0	0	DVL2	7071704	7071704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.964000	0.63701	2.446000	0.82766	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_004422			37	35		144	139	1		1	1		0	0	32	0		1	9.999985e-01	0	22	0	64	0	37	144
DVL2	1856	broad.mit.edu	37	17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	rs144205338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.R159H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642																																						ENST00000005340.5	1.000000	0.310000	7.900000e-01	4.200000e-01	0.560000	0.605546	0.560000	0.520000																										0				25						c.(493-495)cGc>cAc		dishevelled segment polarity protein 2							47.0	44.0	45.0					17																	7133391		2203	4300	6503	SO:0001583	missense	1856	2	121412	35				g.chr17:7133391C>T	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.494G>A	chr17.hg19:g.7133391C>T	ENSP00000005340:p.Arg165His	0					DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	p.R165H	NM_004422.2	NP_004413.1	1	2	3	2.017774	O14641	DVL2_HUMAN		4	776	-			D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	1	1	hg19	c.494G>A	CCDS11091.1	0	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	0	DVL2	7074115	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	0	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.342323	1	0.170000	NM_004422			14	14		298	287	0		1	1		0	0	65	0		9.997057e-01	9.681324e-01	0	6	0	119	0	14	298
CDC42EP4	23580	broad.mit.edu	37	17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	16					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGGAACGGCGCTTGGAGTGC	0.682																																						ENST00000335793.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(46-48)Cgc>Tgc		CDC42 effector protein (Rho GTPase binding) 4							25.0	27.0	26.0					17																	71282594		2203	4300	6503	SO:0001583	missense	23580	2	121342	29				g.chr17:71282594G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.46C>T	chr17.hg19:g.71282594G>A	ENSP00000338258:p.Arg16Cys	0					CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C	p.R16C			1	2	3	2.013100	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)	2	440	-			B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	1	1	hg19	c.46C>T	CCDS11695.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859681	0.91433	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.37584	1.19;1.34	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.54214	-0.8327	10	0.56958	D	0.05	-22.2573	13.1241	0.59344	0.0:0.0:0.8396:0.1603	.	16;16	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	16	ENSP00000338258:R16C;ENSP00000404270:R16C	ENSP00000338258:R16C	R	-	1	0	0	CDC42EP4	68794189	68794189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.378000	0.81104	0.585000	0.79938	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_012121			37	36		140	137	1		1	1		0	0	33	0		1	1	0	38	0	115	0	37	140
SDK2	54549	broad.mit.edu	37	17	71354234	71354234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000388726.3_Silent_p.I1840I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GTCTGGCCTCGATGACGTAGC	0.647																																						ENST00000392650.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(5575-5577)atC>atT		sidekick cell adhesion molecule 2							150.0	142.0	144.0					17																	71354234		2203	4300	6503	SO:0001819	synonymous_variant	54549	4	121406	43				g.chr17:71354234G>A	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.5577C>T	chr17.hg19:g.71354234G>A		0					SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.I1840I	p.I1859I	NM_001144952.1	NP_001138424.1	1	2	3	2.013100	Q58EX2	SDK2_HUMAN		40	5577	-			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	1	1	hg19	c.5577C>T	CCDS45769.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	0	0	1		2	2	2	1		1	0	168		168	166	1	2.060000	-20.000000	1	0.170000	NM_019064			197	194		879	867	1		1	0	1	1	0	168	1106		1	2.299117e-01	1	1	262	4	1014	197	879
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	G	T	rs146100082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000388726.3_Silent_p.A1676A|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						TGACCATGTAGGCCGTGTAGC	0.632																																						ENST00000392650.3	1.000000	0.650000	1	9.200000e-01	0.990000	0.963157	0.990000	1.000000																										0				86						c.(5083-5085)gcC>gcA		sidekick cell adhesion molecule 2							60.0	45.0	50.0					17																	71364628		2203	4300	6503	SO:0001819	synonymous_variant	54549	0	0					g.chr17:71364628G>T	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.5085C>A	chr17.hg19:g.71364628G>T		0					SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	p.A1695A	NM_001144952.1	NP_001138424.1	1	2	3	2.013100	Q58EX2	SDK2_HUMAN		37	5085	-			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	0	1	hg19	c.5085C>A	CCDS45769.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1		2	2	6	0		0	0	19		19	19	1	2.060000	-15.435240	1	0.170000	NM_019064			9	9		76	76	1		1	0	1	0	1	19	1060		9.950648e-01	7.154850e-02	1	0	235	4	975	9	76
SDK2	54549	broad.mit.edu	37	17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GGTCACCATGGTAACCTCCTC	0.587																																						ENST00000392650.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(2521-2523)aCc>aTc		sidekick cell adhesion molecule 2							96.0	74.0	82.0					17																	71398243		2203	4300	6503	SO:0001583	missense	54549	0	0					g.chr17:71398243G>A	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.2522C>T	chr17.hg19:g.71398243G>A	ENSP00000376421:p.Thr841Ile	0					SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	p.T841I	NM_001144952.1	NP_001138424.1	1	2	3	2.013100	Q58EX2	SDK2_HUMAN		19	2522	-			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	1	1	hg19	c.2522C>T	CCDS45769.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005846	0.54254	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57107	0.42;0.42;1.57	5.08	5.08	0.68730	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108394	0.64402	D	0.000007	T	0.40645	0.1125	L	0.28556	0.865	0.51233	D	0.999915	B;B	0.17038	0.013;0.02	B;B	0.17979	0.02;0.014	T	0.22034	-1.0228	10	0.36615	T	0.2	.	12.2987	0.54862	0.0782:0.0:0.9218:0.0	.	841;841	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	465;841;841;17;841	ENSP00000376421:T841I;ENSP00000373378:T841I;ENSP00000407098:T17I	ENSP00000324967:T841I	T	-	2	0	0	SDK2	68909838	68909838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.540000	0.85666	0.597000	0.82753	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_019064			47	47		220	215	1		1	0	1	0	0	60	591		1	2.202880e-01	1	0	135	5	496	47	220
SDK2	54549	broad.mit.edu	37	17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A	rs576079011		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	831	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						CGGCTCCCAGGCGATCAGCTG	0.602																																						ENST00000392650.3	1.000000	0.310000	8.500000e-01	4.300000e-01	0.600000	0.633585	0.600000	0.550000																										0				86						c.(2491-2493)gCc>gTc		sidekick cell adhesion molecule 2							66.0	55.0	59.0					17																	71398273		2203	4300	6503	SO:0001583	missense	54549	0	0					g.chr17:71398273G>A	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.2492C>T	chr17.hg19:g.71398273G>A	ENSP00000376421:p.Ala831Val	0					SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	p.A831V	NM_001144952.1	NP_001138424.1	1	2	3	2.013100	Q58EX2	SDK2_HUMAN		19	2492	-			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	1	1	hg19	c.2492C>T	CCDS45769.1	0	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276295	0.59649	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55413	0.52;0.52;1.51	4.94	4.94	0.65067	4.94	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055352	0.64402	D	0.000001	T	0.39600	0.1084	N	0.20401	0.57	0.52501	D	0.99995	B;B	0.16396	0.017;0.016	B;B	0.29785	0.067;0.107	T	0.22103	-1.0226	10	0.30078	T	0.28	.	12.0414	0.53454	0.0798:0.0:0.9202:0.0	.	831;831	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	455;831;831;7;831	ENSP00000376421:A831V;ENSP00000373378:A831V;ENSP00000407098:A7V	ENSP00000324967:A831V	A	-	2	0	0	SDK2	68909868	68909868	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.414000	0.73318	2.470000	0.83445	0.499000	0.49734	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	0		2	2	6	0		0	0	61		61	60	1	2.060000	-13.499760	1	0.170000	NM_019064			11	11		220	216	0		1	0	1	0	1	61	434		9.982926e-01	3.657045e-02	9.976529e-01	0	15	6	423	11	220
YBX2	51087	broad.mit.edu	37	17	7195345	7195345	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517																																						ENST00000007699.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(367-369)caG>caT		Y box binding protein 2							149.0	119.0	129.0					17																	7195345		2203	4300	6503	SO:0001630	splice_region_variant	51087	0	0					g.chr17:7195345C>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.369+1G>T	chr17.hg19:g.7195345C>A		0					YBX2_ENST00000570627.1_5'UTR	p.Q123H	NM_015982.3	NP_057066.2	1	2	3	2.017774	Q9Y2T7	YBOX2_HUMAN		3	432	-			D3DTP1|Q8N4P0	Splice_Site	SNP	ENST00000007699.5	1	0	hg19	c.369G>T	CCDS11098.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.327992	0.95733	.	.	ENSG00000006047	ENST00000007699	T	0.35048	1.33	5.05	5.05	0.67936	5.05	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.202863	0.44902	D	0.000411	T	0.54287	0.1849	L	0.49256	1.55	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.46359	-0.9197	9	.	.	.	-24.0131	16.7077	0.85376	0.0:1.0:0.0:0.0	.	123	Q9Y2T7	YBOX2_HUMAN	H	123	ENSP00000007699:Q123H	.	Q	-	3	2	2	YBX2	7136069	7136069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.905000	0.75714	2.744000	0.94065	0.561000	0.74099	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.032990	1	0.170000	NM_015982	Missense_Mutation		63	61		294	290	1		1			0	0	64	0		1	0	0	0	0	0	0	63	294
SDK2	54549	broad.mit.edu	37	17	71418553	71418553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						ACACTGGCCAGGAGTACAGTC	0.592																																						ENST00000392650.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1918-1920)Ctg>Ttg		sidekick cell adhesion molecule 2							148.0	126.0	133.0					17																	71418553		2203	4300	6503	SO:0001819	synonymous_variant	54549	0	0					g.chr17:71418553G>A	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.1918C>T	chr17.hg19:g.71418553G>A		0					SDK2_ENST00000388726.3_Silent_p.L640L	p.L640L	NM_001144952.1	NP_001138424.1	1	2	3	2.013100	Q58EX2	SDK2_HUMAN		15	1918	-			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	1	1	hg19	c.1918C>T	CCDS45769.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000	NM_019064			103	98		472	461	1		1	0	1	0	0	118	972		1	2.233079e-01	1	0	175	5	766	103	472
TTYH2	94015	broad.mit.edu	37	17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	219						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTACCTCCTGCTCTTTATCCT	0.622																																						ENST00000269346.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(655-657)Ctc>Ttc		tweety family member 2							238.0	178.0	198.0					17																	72239532		2203	4300	6503	SO:0001583	missense	94015	0	0					g.chr17:72239532C>T		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.655C>T	chr17.hg19:g.72239532C>T	ENSP00000269346:p.Leu219Phe	0					TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F	p.L219F	NM_032646.5	NP_116035.5	1	2	3	2.013100	Q9BSA4	TTYH2_HUMAN		5	729	+			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	1	1	hg19	c.655C>T	CCDS32717.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489369	0.44249	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.17370	2.28;2.28	5.25	2.17	0.27698	5.25	2.17	0.27698	.	0.127696	0.53938	N	0.000052	T	0.27524	0.0676	M	0.88450	2.955	0.80722	D	1	P;P	0.45634	0.752;0.863	B;P	0.45506	0.393;0.483	T	0.03068	-1.1076	10	0.66056	D	0.02	-10.2815	5.8943	0.18931	0.1365:0.6405:0.0:0.223	.	198;219	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	219;198	ENSP00000269346:L219F;ENSP00000433089:L198F	ENSP00000269346:L219F	L	+	1	0	0	TTYH2	69751127	69751127	1.000000	0.71417	0.913000	0.36048	0.929000	0.56500	2.743000	0.47442	0.230000	0.21059	-0.181000	0.13052	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	1	0	0		16	2	2	0		0	1	107		107	107	1	2.060000	-20.000000	1	0.170000				97	94		407	396	1		1	1		0	0	107	0		1	9.852329e-01	0	3	0	27	0	97	407
NEURL4	84461	broad.mit.edu	37	17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	803	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572																																						ENST00000399464.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.W803F(2)	lung(2)	34						c.(2407-2409)tgG>tgA		neuralized E3 ubiquitin protein ligase 4							127.0	138.0	134.0					17																	7226812		2090	4216	6306	SO:0001587	stop_gained	84461	0	0					g.chr17:7226812C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2409G>A	chr17.hg19:g.7226812C>T	ENSP00000382390:p.Trp803*	0					NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	p.W803*	NM_032442.2	NP_115818.2	1	2	3	2.017774	Q96JN8	NEUL4_HUMAN		14	2424	-			Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	0	1	hg19	c.2409G>A	CCDS42251.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.242072	0.98157	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6908	17.0257	0.86446	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000319826:W803X	W	-	3	0	0	NEURL4	7167536	7167536	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.534206	1	0.170000	NM_032442			40	40		170	167	1		1	1		0	0	51	0		1	9.823033e-01	0	4	0	26	0	40	170
NEURL4	84461	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	569	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R569C(2)	large_intestine(2)	34						c.(1705-1707)Cgc>Tgc		neuralized E3 ubiquitin protein ligase 4							199.0	210.0	206.0					17																	7228226		2180	4275	6455	SO:0001583	missense	84461	3	121278	40				g.chr17:7228226G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1705C>T	chr17.hg19:g.7228226G>A	ENSP00000382390:p.Arg569Cys	0		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	p.R569C	NM_032442.2	NP_115818.2	1	2	3	2.017774	Q96JN8	NEUL4_HUMAN		9	1720	-			Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	1	1	hg19	c.1705C>T	CCDS42251.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	0	NEURL4	7168950	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	1	0	1		2	2	2	0		0	0	176		176	175	1	2.060000	-20.000000	1	0.170000	NM_032442			152	151		647	628	1		1	1		0	0	176	0		1	9.567221e-01	0	3	0	21	0	152	647
NEURL4	84461	broad.mit.edu	37	17	7228773	7228773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228773C>T	ENST00000399464.2	-	8	1401	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	462	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGGGGGCGTCAAGGGGG	0.582																																						ENST00000399464.2	1.000000	0.150000	4.900000e-01	2.200000e-01	0.320000	0.396420	0.320000	0.290000																										0				34						c.(1384-1386)acG>acA		neuralized E3 ubiquitin protein ligase 4							72.0	75.0	74.0					17																	7228773		2033	4174	6207	SO:0001819	synonymous_variant	84461	6	120944	35				g.chr17:7228773C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1386G>A	chr17.hg19:g.7228773C>T		0					NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	p.T462T	NM_032442.2	NP_115818.2	1	2	3	2.017774	Q96JN8	NEUL4_HUMAN		8	1401	-			Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	0	1	hg19	c.1386G>A	CCDS42251.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	0	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-8.909538	1	0.170000	NM_032442			9	9		349	339	0		1	0		0	0	76	0		9.935846e-01	1.004432e-01	0	0	0	19	0	9	349
TTYH2	94015	broad.mit.edu	37	17	72239558	72239558	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.C206C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	227						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGTCATCTGCCTCATTGCCT	0.607																																						ENST00000269346.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(679-681)tgC>tgT		tweety family member 2							241.0	185.0	204.0					17																	72239558		2203	4300	6503	SO:0001819	synonymous_variant	94015	1	121412	31				g.chr17:72239558C>T		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.681C>T	chr17.hg19:g.72239558C>T		0					TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.C206C	p.C227C	NM_032646.5	NP_116035.5	1	2	3	2.013100	Q9BSA4	TTYH2_HUMAN		5	755	+			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	1	1	hg19	c.681C>T	CCDS32717.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	1	0	0		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000				96	93		447	437	0		1	1		0	0	120	0		1	9.852891e-01	0	2	0	31	0	96	447
DNAI2	64446	broad.mit.edu	37	17	72301399	72301399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000311014.6	+	9	1096	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000579490.1_Silent_p.I400I|RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000446837.2_Silent_p.I343I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	343					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCATCGTCATCTCCTGCAACC	0.572									Kartagener syndrome																													ENST00000311014.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1027-1029)atC>atA		dynein, axonemal, intermediate chain 2							97.0	77.0	84.0					17																	72301399		2203	4300	6503	SO:0001819	synonymous_variant	64446	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr17:72301399C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1029C>A	chr17.hg19:g.72301399C>A		0					DNAI2_ENST00000579490.1_Silent_p.I400I|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000582036.1_Silent_p.I343I|AC103809.1_ENST00000516976.1_RNA	p.I343I			1	2	3	2.013100	Q9GZS0	DNAI2_HUMAN		9	1096	+			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	1	1	hg19	c.1029C>A	CCDS11697.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_023036			69	68		311	308	1		1			0	0	71	0		1	0	0	0	0	0	0	69	311
DNAI2	64446	broad.mit.edu	37	17	72308348	72308348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000311014.6	+	12	1768	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000579490.1_Silent_p.A624A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000446837.2_Silent_p.A567A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	567					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGACGCCATAAAGCTGA	0.607									Kartagener syndrome																													ENST00000311014.6	1.000000	0.730000	1	9.900000e-01	0.990000	0.977015	0.990000	1.000000																										0				39						c.(1699-1701)gcC>gcT		dynein, axonemal, intermediate chain 2							42.0	32.0	35.0					17																	72308348		2203	4299	6502	SO:0001819	synonymous_variant	64446	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr17:72308348C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1701C>T	chr17.hg19:g.72308348C>T		0					DNAI2_ENST00000579490.1_Silent_p.A624A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000582036.1_Silent_p.A555A	p.A567A			1	2	3	2.013100	Q9GZS0	DNAI2_HUMAN		12	1768	+			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	0	1	hg19	c.1701C>T	CCDS11697.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.306730	1	0.170000	NM_023036			12	12		98	96	1		1			0	0	16	0		9.991643e-01	0	0	0	0	0	0	12	98
KIF19	124602	broad.mit.edu	37	17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	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)			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						CTCTTCCGTGCCATCGAGGAG	0.592																																						ENST00000389916.4	1.000000	0.300000	9.800000e-01	4.500000e-01	0.660000	0.682834	0.660000	1.000000																										0				41						c.(400-402)gCc>gTc		kinesin family member 19							100.0	77.0	85.0					17																	72339244		2203	4300	6503	SO:0001583	missense	124602	0	0					g.chr17:72339244C>T	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.401C>T	chr17.hg19:g.72339244C>T	ENSP00000374566:p.Ala134Val	0						p.A134V	NM_153209.3	NP_694941.2	1	2	3	2.013100	Q2TAC6	KIF19_HUMAN		5	539	+			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	1	1	hg19	c.401C>T	CCDS32718.2	0	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274337	0.59649	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75260	-0.65;-0.92	5.48	4.51	0.55191	5.48	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.74390	0.3710	L	0.33137	0.985	0.58432	D	0.999995	P;D;P;P	0.60575	0.943;0.988;0.611;0.611	P;P;B;B	0.59643	0.811;0.861;0.219;0.408	T	0.69617	-0.5097	9	0.17369	T	0.5	.	13.3003	0.60321	0.0:0.9221:0.0:0.0779	.	134;134;134;134	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	134	ENSP00000449134:A134V;ENSP00000374566:A134V	ENSP00000374566:A134V	A	+	2	0	0	KIF19	69850839	69850839	1.000000	0.71417	0.943000	0.38184	0.254000	0.26022	5.590000	0.67530	1.342000	0.45619	-0.265000	0.10407	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-11.069430	1	0.170000	NM_153209			8	8		147	146	0		1	0		0	0	34	0		9.896908e-01	3.628154e-03	0	0	0	2	0	8	147
KIF19	124602	broad.mit.edu	37	17	72345379	72345379	+	Silent	SNP	C	C	T	rs372926359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	368					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)			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						CCAGCATCATCGCTGACCTGC	0.642																																						ENST00000389916.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(1102-1104)atC>atT		kinesin family member 19		C		0,4406		0,0,2203	75.0	64.0	68.0		1104	3.8	0.9	17		68	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		368/999	72345379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124602	7	121404	35				g.chr17:72345379C>T	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.1104C>T	chr17.hg19:g.72345379C>T		0						p.I368I	NM_153209.3	NP_694941.2	1	2	3	2.013100	Q2TAC6	KIF19_HUMAN		10	1242	+			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	1	1	hg19	c.1104C>T	CCDS32718.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.411512	1	0.170000	NM_153209			37	37		175	171	1		1	0		0	0	35	0		1	2.188427e-01	0	0	0	5	0	37	175
KIF19	124602	broad.mit.edu	37	17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	462					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)			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						CTCACCATCGCCGGGTAAGCC	0.672																																						ENST00000389916.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.992857	0.990000	1.000000																										0				41						c.(1384-1386)gCc>gTc		kinesin family member 19							26.0	25.0	25.0					17																	72346711		2203	4298	6501	SO:0001583	missense	124602	0	0					g.chr17:72346711C>T	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.1385C>T	chr17.hg19:g.72346711C>T	ENSP00000374566:p.Ala462Val	0						p.A462V	NM_153209.3	NP_694941.2	1	2	3	2.013100	Q2TAC6	KIF19_HUMAN		11	1523	+			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	1	1	hg19	c.1385C>T	CCDS32718.2	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066952	0.76301	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74209	-0.82;-0.58	5.67	5.67	0.87782	5.67	5.67	0.87782	.	.	.	.	.	D	0.84538	0.5494	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;P	0.65815	0.923;0.995;0.837;0.734	P;P;P;P	0.62560	0.754;0.904;0.713;0.559	D	0.84054	0.0371	9	0.46703	T	0.11	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	462;420;420;462	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	420;462	ENSP00000449134:A420V;ENSP00000374566:A462V	ENSP00000374566:A462V	A	+	2	0	0	KIF19	69858306	69858306	1.000000	0.71417	0.614000	0.29051	0.022000	0.10575	6.963000	0.76055	2.695000	0.91970	0.650000	0.86243	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_153209			18	18		135	131	1		1	0		0	0	29	0		9.999840e-01	4.294226e-02	0	0	0	3	0	18	135
GPRC5C	55890	broad.mit.edu	37	17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000481232.1	+	2	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	17					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTCTCTTCCTGTTCCCAGG	0.642																																						ENST00000481232.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(184-186)Ctg>Atg		G protein-coupled receptor, class C, group 5, member C							58.0	53.0	55.0					17																	72435964		2203	4300	6503	SO:0001583	missense	55890	0	0					g.chr17:72435964C>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.184C>A	chr17.hg19:g.72435964C>A	ENSP00000462147:p.Leu62Met	0					GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M	p.L62M			1	2	3	2.013100	Q9NQ84	GPC5C_HUMAN		2	695	+			B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	1	1	hg19	c.184C>A		1	.	.	.	.	.	.	.	.	.	.	C	7.074	0.568859	0.13560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.20200	2.09;2.12	5.49	3.36	0.38483	5.49	3.36	0.38483	.	0.416385	0.21947	N	0.066782	T	0.33673	0.0871	L	0.59436	1.845	0.09310	N	1	P;P;P;D	0.60160	0.826;0.651;0.763;0.987	B;B;B;P	0.58391	0.259;0.259;0.444;0.838	T	0.06607	-1.0817	10	0.87932	D	0	-2.0659	8.7494	0.34607	0.0:0.7846:0.0:0.2154	.	17;17;29;17	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	M	17;62;17;29;17	ENSP00000376405:L29M;ENSP00000376404:L17M	ENSP00000262616:L17M	L	+	1	2	2	GPRC5C	69947559	69947559	0.093000	0.21703	0.426000	0.26672	0.968000	0.65278	1.296000	0.33389	1.143000	0.42306	0.561000	0.74099	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				67	66		288	284	1		1	1		0	0	53	0		1	9.999973e-01	0	31	0	52	0	67	288
GPRC5C	55890	broad.mit.edu	37	17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000392627.1	+	2	1994	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	245					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGGTCTTTGTGCTCCTCAC	0.607																																						ENST00000392627.1	1.000000	0.660000	1	8.200000e-01	0.990000	0.933841	0.990000	1.000000																										0				17						c.(868-870)Gtg>Atg		G protein-coupled receptor, class C, group 5, member C							79.0	56.0	64.0					17																	72436648		2203	4300	6503	SO:0001583	missense	55890	0	0					g.chr17:72436648G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.868G>A	chr17.hg19:g.72436648G>A	ENSP00000376403:p.Val290Met	0					GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	p.V290M	NM_022036.2	NP_071319.2	1	2	3	2.013100	Q9NQ84	GPC5C_HUMAN		2	1994	+			B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	1	1	hg19	c.868G>A	CCDS11699.1	1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189503	0.38707	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	3.69	0.42338	5.79	3.69	0.42338	GPCR, family 3, C-terminal (2);	0.299751	0.34268	N	0.004116	D	0.88633	0.6489	L	0.48642	1.525	0.37849	D	0.929327	P;P;P	0.42620	0.785;0.785;0.745	P;P;P	0.55345	0.774;0.675;0.664	D	0.88618	0.3161	10	0.87932	D	0	-17.0307	4.3277	0.11048	0.2478:0.174:0.5783:0.0	.	245;245;257	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	245;290;257;245	ENSP00000376405:V257M	ENSP00000340595:V290M	V	+	1	0	0	GPRC5C	69948243	69948243	0.968000	0.33430	0.997000	0.53966	0.348000	0.29142	1.942000	0.40243	1.454000	0.47793	0.561000	0.74099	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				24	24		264	260	1		1	1		0	0	57	0		9.999997e-01	9.980535e-01	0	23	0	87	0	24	264
GPRC5C	55890	broad.mit.edu	37	17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000481232.1	+	3	934	c.423C>A	c.(421-423)caC>caA	p.H141Q	GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCGGTGTCACCATACAGCGG	0.572																																						ENST00000481232.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(421-423)caC>caA		G protein-coupled receptor, class C, group 5, member C							125.0	107.0	113.0					17																	72439974		2203	4300	6503	SO:0001583	missense	55890	0	0					g.chr17:72439974C>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.423C>A	chr17.hg19:g.72439974C>A	ENSP00000462147:p.His141Gln	0					GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T	p.H141Q			1	2	3	2.013100	Q9NQ84	GPC5C_HUMAN		3	934	+			B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	1	1	hg19	c.423C>A		1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508381	0.27036	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.298370	0.36519	N	0.002557	T	0.43233	0.1238	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.981;0.981;0.992	T	0.28004	-1.0057	10	0.72032	D	0.01	-21.0327	16.4521	0.83994	0.0:1.0:0.0:0.0	.	68;357;357;369	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	T	357;402;68;369;357	ENSP00000376405:P369T	ENSP00000262616:P68T	P	+	1	0	0	GPRC5C	69951569	69951569	1.000000	0.71417	0.676000	0.29932	0.318000	0.28184	5.328000	0.65887	2.483000	0.83821	0.643000	0.83706	CCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				67	67		291	283	1		1	1		0	0	69	0		1	1	0	75	0	100	0	67	291
KCTD11	147040	broad.mit.edu	37	17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	42	BTB.				cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662																																						ENST00000333751.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(124-126)Ctg>Atg		potassium channel tetramerization domain containing 11							26.0	26.0	26.0					17																	7256385		2203	4300	6503	SO:0001583	missense	147040	0	0					g.chr17:7256385C>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.124C>A	chr17.hg19:g.7256385C>A	ENSP00000328352:p.Leu42Met	0					RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	p.L42M	NM_001002914.2	NP_001002914.1	1	2	3	2.017774	Q693B1	KCD11_HUMAN		1	1178	+		Prostate(122;0.157)	B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	1	1	hg19	c.124C>A	CCDS32545.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243281	0.58995	.	.	ENSG00000213859	ENST00000333751	T	0.76578	-1.03	5.27	4.29	0.51040	5.27	4.29	0.51040	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.218004	0.22695	U	0.056762	T	0.81517	0.4839	L	0.49778	1.585	0.30483	N	0.772147	D	0.65815	0.995	D	0.68621	0.959	T	0.78081	-0.2343	10	0.59425	D	0.04	.	7.1681	0.25702	0.1675:0.7433:0.0:0.0891	.	42	Q693B1	KCD11_HUMAN	M	42	ENSP00000328352:L42M	ENSP00000328352:L42M	L	+	1	2	2	KCTD11	7197109	7197109	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	0.356000	0.20181	2.466000	0.83321	0.655000	0.94253	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_001002914			41	40		168	166	1		1	1		0	0	52	0		1	9.999815e-01	0	12	0	60	0	41	168
KCTD11	147040	broad.mit.edu	37	17	7256700	7256700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256700G>A	ENST00000333751.3	+	1	1493	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	147					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGCCAGTGGGGATAGGGCAGA	0.637																																						ENST00000333751.3	1.000000	0.090000	3.100000e-01	1.400000e-01	0.200000	0.287466	0.200000	0.190000																										0				4						c.(439-441)Gat>Aat		potassium channel tetramerization domain containing 11							78.0	70.0	73.0					17																	7256700		2203	4300	6503	SO:0001583	missense	147040	0	0					g.chr17:7256700G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.439G>A	chr17.hg19:g.7256700G>A	ENSP00000328352:p.Asp147Asn	0					RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	p.D147N	NM_001002914.2	NP_001002914.1	1	2	3	2.017774	Q693B1	KCD11_HUMAN		1	1493	+		Prostate(122;0.157)	B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	0	1	hg19	c.439G>A	CCDS32545.1	0	.	.	.	.	.	.	.	.	.	.	G	6.717	0.500956	0.12822	.	.	ENSG00000213859	ENST00000333751	T	0.69040	-0.37	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.487982	0.16655	U	0.205050	T	0.45216	0.1331	N	0.14661	0.345	0.31909	N	0.614981	B	0.23058	0.079	B	0.18871	0.023	T	0.37663	-0.9696	10	0.02654	T	1	.	13.7657	0.62992	0.0:0.0:1.0:0.0	.	147	Q693B1	KCD11_HUMAN	N	147	ENSP00000328352:D147N	ENSP00000328352:D147N	D	+	1	0	0	KCTD11	7197424	7197424	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	2.761000	0.47589	2.316000	0.78162	0.462000	0.41574	GAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	0	0	0		2	2	2	0		0	0	103		103	101	1	2.060000	-7.488460	1	0.170000	NM_001002914			10	9		623	600	0		1	0		0	0	103	0		9.962213e-01	2.653964e-01	0	1	0	57	0	10	623
KCTD11	147040	broad.mit.edu	37	17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	188					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677																																						ENST00000333751.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(562-564)Cgg>Tgg		potassium channel tetramerization domain containing 11							15.0	19.0	17.0					17																	7256823		2167	4253	6420	SO:0001583	missense	147040	6	121060	35				g.chr17:7256823C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.562C>T	chr17.hg19:g.7256823C>T	ENSP00000328352:p.Arg188Trp	0					RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	p.R188W	NM_001002914.2	NP_001002914.1	1	2	3	2.017774	Q693B1	KCD11_HUMAN		1	1616	+		Prostate(122;0.157)	B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	1	1	hg19	c.562C>T	CCDS32545.1	1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237051	0.58886	.	.	ENSG00000213859	ENST00000333751	T	0.71461	-0.57	4.94	2.86	0.33363	4.94	2.86	0.33363	.	0.130623	0.29009	U	0.013434	T	0.68430	0.3000	N	0.19112	0.55	0.29962	N	0.819331	D	0.76494	0.999	P	0.62014	0.897	T	0.66642	-0.5872	10	0.66056	D	0.02	.	9.9281	0.41505	0.3702:0.6298:0.0:0.0	.	188	Q693B1	KCD11_HUMAN	W	188	ENSP00000328352:R188W	ENSP00000328352:R188W	R	+	1	2	2	KCTD11	7197547	7197547	0.144000	0.22641	0.592000	0.28758	0.930000	0.56654	0.415000	0.21181	0.622000	0.30249	0.462000	0.41574	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	1	0	1		2	2	2	0		0	0	38		38	32	1	2.060000	-20.000000	1	0.170000	NM_001002914			51	51		202	188	1		1	1		0	0	38	0		1	9.999710e-01	0	11	0	54	0	51	202
TMEM95	339168	broad.mit.edu	37	17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000576060.1	+	1	98	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.A24V			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	24						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662																																						ENST00000576060.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				3						c.(70-72)gCc>gTc		transmembrane protein 95		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30.0	31.0	31.0		71	-3.2	0.0	17	dbSNP_134	31	0,8600		0,0,4300	no	missense	TMEM95	NM_198154.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	24/185	7258594	1,13005	2203	4300	6503	SO:0001583	missense	339168	1	121412	30				g.chr17:7258594C>T		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.71C>T	chr17.hg19:g.7258594C>T	ENSP00000460828:p.Ala24Val	0					RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|TMEM95_ENST00000389982.4_Missense_Mutation_p.A24V	p.A24V			1	2	3	2.017774	Q3KNT9	TMM95_HUMAN		1	98	+		Prostate(122;0.173)	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	1	1	hg19	c.71C>T		1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688647	0.68271	2.27E-4	0.0	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	-3.19	0.05171	4.79	-3.19	0.05171	.	0.596942	0.13945	N	0.351909	T	0.31167	0.0788	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33238	0.403;0.403;0.403	B;B;B	0.38842	0.161;0.283;0.161	T	0.24012	-1.0172	9	0.41790	T	0.15	.	14.8977	0.70656	0.7628:0.2372:0.0:0.0	.	24;24;24	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	V	24	.	ENSP00000331466:A24V	A	+	2	0	0	TMEM95	7199318	7199318	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.615000	0.05597	-0.717000	0.04955	0.561000	0.74099	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_198154			36	35		193	192	1		1			0	0	35	0		1	0	0	0	0	0	0	36	193
CD300A	11314	broad.mit.edu	37	17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000360141.3	+	6	1005	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	239					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)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCTGATGTGGCCTCTGCAGG	0.637																																						ENST00000360141.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998285	0.990000	1.000000																										0				16						c.(715-717)tgG>tgA		CD300a molecule							55.0	43.0	47.0					17																	72477915		2203	4300	6503	SO:0001587	stop_gained	11314	0	0					g.chr17:72477915G>A	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.717G>A	chr17.hg19:g.72477915G>A	ENSP00000353259:p.Trp239*	0					CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	p.W239*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	1	2	3	2.013100	Q9UGN4	CLM8_HUMAN		6	1005	+			A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Nonsense_Mutation	SNP	ENST00000360141.3	0	1	hg19	c.717G>A	CCDS32720.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082356	0.36758	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	.	.	.	4.11	2.01	0.26516	4.11	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1405	0.25554	0.0:0.2098:0.6069:0.1833	.	.	.	.	X	43;239;126	.	ENSP00000308188:W126X	W	+	3	0	0	CD300A	69989510	69989510	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.979000	0.29500	0.627000	0.30340	0.561000	0.74099	TGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999990	1	0.170000	NM_007261			15	15		86	84	0		1	0		0	0	10	0		9.999013e-01	9.999780e-01	0	0	0	118	0	15	86
TMEM95	339168	broad.mit.edu	37	17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A	rs199941572		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000576060.1	+	4	349	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.A108T			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	108						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000576060.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(322-324)Gcc>Acc		transmembrane protein 95		G	THR/ALA	0,4406		0,0,2203	76.0	76.0	76.0		322	1.7	0.2	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM95	NM_198154.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	108/185	7259362	1,13005	2203	4300	6503	SO:0001583	missense	339168	1	121412	34				g.chr17:7259362G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.322G>A	chr17.hg19:g.7259362G>A	ENSP00000460828:p.Ala108Thr	0		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|TMEM95_ENST00000389982.4_Missense_Mutation_p.A108T	p.A108T			1	2	3	2.017774	Q3KNT9	TMM95_HUMAN		4	349	+		Prostate(122;0.173)	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	1	1	hg19	c.322G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944504	0.34283	0.0	1.16E-4	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	1.7	0.24286	4.79	1.7	0.24286	.	0.179711	0.27176	N	0.020567	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	0.999995	B;P;B	0.34462	0.168;0.454;0.168	B;B;B	0.26614	0.022;0.071;0.022	T	0.10989	-1.0606	9	0.45353	T	0.12	.	4.215	0.10530	0.1913:0.0:0.6273:0.1814	.	108;108;108	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	T	108	.	ENSP00000331466:A108T	A	+	1	0	0	TMEM95	7200086	7200086	0.001000	0.12720	0.233000	0.24025	0.123000	0.20343	0.341000	0.19909	0.250000	0.21479	-0.215000	0.12644	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1		2	2	2	0		0	0	95		95	90	1	2.060000	-3.575372	1	0.170000	NM_198154			118	115		412	405	1		1			0	0	95	0		1	0	0	0	0	0	0	118	412
TMEM95	339168	broad.mit.edu	37	17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000576060.1	+	5	403	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.V126M			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	126						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000576060.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(376-378)Gtg>Atg		transmembrane protein 95							30.0	32.0	31.0					17																	7259562		2203	4299	6502	SO:0001583	missense	339168	0	0					g.chr17:7259562G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.376G>A	chr17.hg19:g.7259562G>A	ENSP00000460828:p.Val126Met	0		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|TMEM95_ENST00000389982.4_Missense_Mutation_p.V126M	p.V126M			1	2	3	2.017774	Q3KNT9	TMM95_HUMAN		5	403	+		Prostate(122;0.173)	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	1	1	hg19	c.376G>A		1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009211	0.54361	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.14	4.17	0.49024	5.14	4.17	0.49024	.	0.856802	0.09501	N	0.793645	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	1	P;D;P	0.58620	0.936;0.983;0.936	P;P;P	0.58873	0.73;0.847;0.73	T	0.26155	-1.0111	9	0.62326	D	0.03	.	9.6214	0.39723	0.0945:0.0:0.9055:0.0	.	126;126;134	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	M	126;134	.	ENSP00000331466:V134M	V	+	1	0	0	TMEM95	7200286	7200286	0.786000	0.28738	0.023000	0.16930	0.046000	0.14306	4.520000	0.60524	1.410000	0.46936	-0.291000	0.09656	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_198154			53	53		176	175	1		1			0	0	41	0		1	0	0	0	0	0	0	53	176
C17orf77	146723	broad.mit.edu	37	17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	7						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463																																						ENST00000392620.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(19-21)Tca>Cca		chromosome 17 open reading frame 77							110.0	111.0	111.0					17																	72588204		2203	4300	6503	SO:0001583	missense	146723	0	0					g.chr17:72588204T>C		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.19T>C	chr17.hg19:g.72588204T>C	ENSP00000376396:p.Ser7Pro	0					CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P	p.S7P	NM_152460.2	NP_689673.2	1	2	3	2.013100	Q96MU5	CQ077_HUMAN		3	381	+				Missense_Mutation	SNP	ENST00000392620.1	1	1	hg19	c.19T>C	CCDS32721.1	1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046570	0.07407	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54866	0.55;0.55	2.47	-2.1	0.07210	2.47	-2.1	0.07210	.	.	.	.	.	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	0.87932	D	0	.	6.4509	0.21903	0.0:0.3307:0.0:0.6693	.	7	Q96MU5	CQ077_HUMAN	P	7	ENSP00000376396:S7P;ENSP00000329353:S7P	ENSP00000329353:S7P	S	+	1	0	0	C17orf77	70099799	70099799	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.118000	0.10692	-0.473000	0.06871	-0.961000	0.02630	TCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	NM_152460			103	101		489	483	1		1			0	0	112	0		1	0	0	0	0	0	0	103	489
CD300LF	146722	broad.mit.edu	37	17	72699238	72699238	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000326165.6	-	3	494		c.e3-1		CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000469092.1_Splice_Site|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|CD300LF_ENST00000464910.1_Splice_Site|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000301573.9_Splice_Site	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGACTGGTGCTGTAAACGTA	0.567																																						ENST00000326165.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				12						c.e3-1		CD300 molecule-like family member f							216.0	174.0	188.0					17																	72699238		2203	4300	6503	SO:0001630	splice_region_variant	146722	0	0					g.chr17:72699238C>A	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.383-1G>T	chr17.hg19:g.72699238C>A		0					CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site|RAB37_ENST00000340415.3_Intron		NM_139018.3	NP_620587.2	1	2	3	2.013100	Q8TDQ1	CLM1_HUMAN		3	494	-			B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Splice_Site	SNP	ENST00000326165.6	1	0	hg19		CCDS11704.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.397|5.397	0.258510|0.258510	0.10239|0.10239	.|.	.|.	ENSG00000186074|ENSG00000186074	ENST00000301573;ENST00000343125;ENST00000326165|ENST00000361254	.|T	.|0.03663	.|3.85	4.35|4.35	0.167|0.167	0.15006|0.15006	4.35|4.35	0.167|0.167	0.15006|0.15006	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02193	.|0.0068	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999926|0.999926	.|P;B	.|0.35272	.|0.493;0.42	.|B;B	.|0.29176	.|0.045;0.099	.|T	.|0.48833	.|-0.9000	.|7	.|.	.|.	.|.	.|.	6.1128|6.1128	0.20110|0.20110	0.0:0.5579:0.0:0.4421|0.0:0.5579:0.0:0.4421	.|.	.|143;146	.|E7EME0;Q8TDQ1-2	.|.;.	.|S	-1|146	.|ENSP00000355294:A146S	.|.	.|A	-|-	.|1	.|0	.|0	CD300LF|CD300LF	70210833|70210833	70210833|70210833	0.013000|0.013000	0.17824|0.17824	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.022000|-0.022000	0.12480|0.12480	0.221000|0.221000	0.20879|0.20879	0.655000|0.655000	0.94253|0.94253	.|GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-19.996230	1	0.170000	NM_139018	Intron		50	47		314	301	0		1	0		0	0	92	0		1	6.686280e-01	0	0	0	16	0	50	314
CD300LF	146722	broad.mit.edu	37	17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000326165.6	-	2	200	c.89G>A	c.(88-90)gGc>gAc	p.G30D	CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000469092.1_Missense_Mutation_p.G33D|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	30	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCTCCAAGCCATTCACTGT	0.542																																						ENST00000326165.6	1.000000	0.320000	6.700000e-01	4.000000e-01	0.510000	0.554056	0.510000	0.490000																										0				12						c.(88-90)gGc>gAc		CD300 molecule-like family member f							73.0	67.0	69.0					17																	72700910		2203	4300	6503	SO:0001583	missense	146722	0	0					g.chr17:72700910C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.89G>A	chr17.hg19:g.72700910C>T	ENSP00000327075:p.Gly30Asp	0					CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000469092.1_Missense_Mutation_p.G33D|RAB37_ENST00000340415.3_Intron	p.G30D	NM_139018.3	NP_620587.2	1	2	3	2.013100	Q8TDQ1	CLM1_HUMAN		2	200	-			B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	1	1	hg19	c.89G>A	CCDS11704.1	0	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168291	0.57584	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	3.24	0.37175	5.35	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261665	0.26700	N	0.022958	D	0.84474	0.5480	H	0.95780	3.72	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	0.87578	0.996;0.997;0.998;0.997;0.998;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	8.3165	0.32104	0.154:0.7612:0.0:0.0848	.	30;33;33;30;30;33	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	D	30;33;33;30	ENSP00000301573:G30D;ENSP00000355294:G33D;ENSP00000343751:G33D;ENSP00000327075:G30D	ENSP00000301573:G30D	G	-	2	0	0	CD300LF	70212505	70212505	0.010000	0.17322	0.014000	0.15608	0.001000	0.01503	1.129000	0.31381	1.385000	0.46445	0.561000	0.74099	GGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-19.769400	1	0.170000	NM_139018			21	20		484	473	0		1	0		0	0	112	0		9.999970e-01	4.608414e-01	0	0	0	36	0	21	484
SLC9A3R1	9368	broad.mit.edu	37	17	72763082	72763082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	255					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537																																						ENST00000262613.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(763-765)ctG>ctA		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							167.0	135.0	146.0					17																	72763082		2203	4300	6503	SO:0001819	synonymous_variant	9368	0	0					g.chr17:72763082G>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.765G>A	chr17.hg19:g.72763082G>A		0					SLC9A3R1_ENST00000413388.2_Silent_p.L99L	p.L255L	NM_004252.4	NP_004243.1	1	2	3	2.013100	O14745	NHRF1_HUMAN		4	960	+			B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	1	1	hg19	c.765G>A	CCDS11705.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000				104	102		351	339	1		1	1		0	0	77	0		1	1	0	203	0	339	0	104	351
SLC9A3R1	9368	broad.mit.edu	37	17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	293					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642																																						ENST00000262613.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(877-879)aCc>aTc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							44.0	50.0	48.0					17																	72764365		2203	4300	6503	SO:0001583	missense	9368	0	0					g.chr17:72764365C>T	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.878C>T	chr17.hg19:g.72764365C>T	ENSP00000262613:p.Thr293Ile	0					SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	p.T293I	NM_004252.4	NP_004243.1	1	2	3	2.013100	O14745	NHRF1_HUMAN		5	1073	+			B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	1	1	hg19	c.878C>T	CCDS11705.1	1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039640	0.19669	.	.	ENSG00000109062	ENST00000262613	T	0.31247	1.5	4.37	4.37	0.52481	4.37	4.37	0.52481	.	0.489229	0.22378	N	0.060844	T	0.30727	0.0774	M	0.67953	2.075	0.35992	D	0.836765	B	0.12630	0.006	B	0.09377	0.004	T	0.28038	-1.0056	10	0.19147	T	0.46	-12.1327	12.783	0.57487	0.0:1.0:0.0:0.0	.	293	O14745	NHRF1_HUMAN	I	293	ENSP00000262613:T293I	ENSP00000262613:T293I	T	+	2	0	0	SLC9A3R1	70275960	70275960	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.450000	0.52957	2.142000	0.66516	0.467000	0.42956	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				100	99		407	392	1		1	1		0	0	89	0		1	1	0	231	0	422	0	100	407
GRIN2C	2905	broad.mit.edu	37	17	72838586	72838586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1230					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)			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)	ACACTTCTGACTCCAGACTGG	0.607																																						ENST00000293190.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				33						c.(3688-3690)gaG>gaA		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						27.0	26.0	26.0					17																	72838586		2203	4300	6503	SO:0001819	synonymous_variant	2905	0	0					g.chr17:72838586C>T		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.3690G>A	chr17.hg19:g.72838586C>T		0						p.E1230E	NM_000835.3	NP_000826.2	1	2	3	2.013100	Q14957	NMDE3_HUMAN		13	3836	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B2RTT1	Silent	SNP	ENST00000293190.5	1	1	hg19	c.3690G>A	CCDS32724.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				30	30		167	166	1		1			0	0	33	0		1	0	0	0	0	0	0	30	167
GRIN2C	2905	broad.mit.edu	37	17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	779					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)			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)	CCCCCAGGAACTGCAAGAGCG	0.602																																						ENST00000293190.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2335-2337)caG>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						142.0	115.0	124.0					17																	72842218		2203	4300	6503	SO:0001583	missense	2905	0	0					g.chr17:72842218C>A		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.2337G>T	chr17.hg19:g.72842218C>A	ENSP00000293190:p.Gln779His	0					GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	p.Q779H	NM_000835.3	NP_000826.2	1	2	3	2.013100	Q14957	NMDE3_HUMAN		11	2483	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	1	1	hg19	c.2337G>T	CCDS32724.1	1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774255	0.31411	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.28069	1.63	4.21	2.16	0.27623	4.21	2.16	0.27623	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.37850	1.14	0.51233	D	0.999914	D;D	0.71674	0.998;0.99	D;D	0.65140	0.932;0.913	T	0.17258	-1.0375	10	0.87932	D	0	.	10.0838	0.42406	0.0:0.8309:0.0:0.1691	.	813;779	Q8IW23;Q14957	.;NMDE3_HUMAN	H	779;813	ENSP00000293190:Q779H	ENSP00000293190:Q779H	Q	-	3	2	2	GRIN2C	70353813	70353813	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.192000	0.50989	0.504000	0.28082	0.561000	0.74099	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1		2	2	2	0		0	0	158		158	155	1	2.060000	-20.000000	1	0.170000				85	85		501	493	1		1			0	0	158	0		1	0	0	0	0	0	0	85	501
GRIN2C	2905	broad.mit.edu	37	17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	673					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)			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)	GGGTACTGATCTTGAGGCCGC	0.617																																						ENST00000293190.5	1.000000	0.570000	1	7.000000e-01	0.840000	0.845829	0.840000	1.000000																										0				33						c.(2017-2019)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						92.0	83.0	86.0					17																	72843044		2203	4300	6503	SO:0001583	missense	2905	0	0					g.chr17:72843044C>A		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.2017G>T	chr17.hg19:g.72843044C>A	ENSP00000293190:p.Asp673Tyr	0					GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	p.D673Y	NM_000835.3	NP_000826.2	1	2	3	2.013100	Q14957	NMDE3_HUMAN		10	2163	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	1	1	hg19	c.2017G>T	CCDS32724.1	0	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307337	0.40795	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40476	1.03	4.63	4.63	0.57726	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.228759	0.42420	D	0.000702	T	0.46367	0.1389	N	0.22421	0.69	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	B;P	0.57101	0.382;0.813	T	0.51560	-0.8690	10	0.87932	D	0	.	16.7658	0.85523	0.0:1.0:0.0:0.0	.	707;673	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	673;707	ENSP00000293190:D673Y	ENSP00000293190:D673Y	D	-	1	0	0	GRIN2C	70354639	70354639	1.000000	0.71417	0.096000	0.21009	0.899000	0.52679	7.577000	0.82486	2.548000	0.85928	0.561000	0.74099	GAT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				30	30		400	391	0		1	0		0	0	76	0		1	0	0	0	0	1	0	30	400
GRIN2C	2905	broad.mit.edu	37	17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	600					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)			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)	ACGGACTTGCCGATAGTGAAA	0.652																																						ENST00000293190.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				33						c.(1798-1800)Ggc>Agc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						24.0	26.0	25.0					17																	72843650		2203	4297	6500	SO:0001583	missense	2905	0	0					g.chr17:72843650C>T		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.1798G>A	chr17.hg19:g.72843650C>T	ENSP00000293190:p.Gly600Ser	0					GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	p.G600S	NM_000835.3	NP_000826.2	1	2	3	2.013100	Q14957	NMDE3_HUMAN		9	1944	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	1	1	hg19	c.1798G>A	CCDS32724.1	1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605203	0.46423	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.29	4.29	0.51040	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.17674	0.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60929	-0.7165	10	0.56958	D	0.05	.	16.89	0.86084	0.0:1.0:0.0:0.0	.	634;600	Q8IW23;Q14957	.;NMDE3_HUMAN	S	600;634	ENSP00000293190:G600S	ENSP00000293190:G600S	G	-	1	0	0	GRIN2C	70355245	70355245	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	7.599000	0.82757	2.357000	0.79964	0.561000	0.74099	GGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				34	33		193	192	0		1	0		0	0	45	0		1	0	0	1	0	0	0	34	193
GRIN2C	2905	broad.mit.edu	37	17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	329					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)			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)	GTAGAAGGCCTCCCGGGCAGG	0.721																																						ENST00000293190.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				33						c.(985-987)gAg>gGg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						7.0	8.0	8.0					17																	72848164		2013	4009	6022	SO:0001583	missense	2905	0	0					g.chr17:72848164T>C		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.986A>G	chr17.hg19:g.72848164T>C	ENSP00000293190:p.Glu329Gly	0					GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G|GRIN2C_ENST00000578159.1_5'Flank	p.E329G	NM_000835.3	NP_000826.2	1	2	3	2.013100	Q14957	NMDE3_HUMAN		3	1132	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	1	1	hg19	c.986A>G	CCDS32724.1	1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154715	0.38021	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.05199	3.48	4.48	4.48	0.54585	4.48	4.48	0.54585	.	0.060840	0.64402	D	0.000004	T	0.05181	0.0138	N	0.21448	0.665	0.34608	D	0.717263	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.22556	-1.0213	10	0.33940	T	0.23	.	11.2339	0.48929	0.0:0.0:0.1642:0.8358	.	363;329	Q8IW23;Q14957	.;NMDE3_HUMAN	G	329;363	ENSP00000293190:E329G	ENSP00000293190:E329G	E	-	2	0	0	GRIN2C	70359759	70359759	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.358000	0.34102	2.003000	0.58678	0.459000	0.35465	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000				22	22		73	72	1		1			0	0	22	0		9.999995e-01	0	0	0	0	0	0	22	73
FDXR	2232	broad.mit.edu	37	17	72862343	72862343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000293195.5	-	5	495	c.417G>A	c.(415-417)cgG>cgA	p.R139R	FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000455107.2_Silent_p.R95R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000442102.2_Silent_p.R182R	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	139					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTTCCAGGGCCCGATGGTCCT	0.647																																						ENST00000293195.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(415-417)cgG>cgA		ferredoxin reductase	Flavin adenine dinucleotide(DB03147)						42.0	48.0	46.0					17																	72862343		2203	4300	6503	SO:0001819	synonymous_variant	2232	0	0					g.chr17:72862343C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.417G>A	chr17.hg19:g.72862343C>T		0					FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000455107.2_Silent_p.R95R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.R182R	p.R139R	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	1	2	3	2.013100	P22570	ADRO_HUMAN		5	495	-	all_lung(278;0.172)|Lung NSC(278;0.207)		B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	1	1	hg19	c.417G>A	CCDS58593.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_004110			58	57		306	299	1		1	1		0	0	62	0		1	9.999991e-01	0	37	0	73	0	58	306
TNK1	8711	broad.mit.edu	37	17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000576812.1	+	11	2086	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	TNK1_ENST00000570896.1_Missense_Mutation_p.P568T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577																																						ENST00000576812.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1717-1719)Cct>Act		tyrosine kinase, non-receptor, 1							49.0	55.0	53.0					17																	7291949		1889	4125	6014	SO:0001583	missense	8711	0	0					g.chr17:7291949C>A	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.1717C>A	chr17.hg19:g.7291949C>A	ENSP00000459799:p.Pro573Thr	0					TNK1_ENST00000570896.1_Missense_Mutation_p.P568T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T	p.P573T	NM_001251902.1	NP_001238831.1	1	2	3	2.017774				11	2086	+		Prostate(122;0.157)		Missense_Mutation	SNP	ENST00000576812.1	1	1	hg19	c.1717C>A	CCDS58510.1	1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626753	0.14257	.	.	ENSG00000174292	ENST00000311668	T	0.76968	-1.06	5.26	3.28	0.37604	5.26	3.28	0.37604	.	0.460571	0.18670	N	0.134461	T	0.58509	0.2127	N	0.08118	0	0.24072	N	0.995972	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.54091	-0.8345	10	0.66056	D	0.02	.	7.5516	0.27800	0.0:0.7366:0.0:0.2634	.	568;573	Q13470-2;Q13470	.;TNK1_HUMAN	T	568	ENSP00000312309:P568T	ENSP00000312309:P568T	P	+	1	0	0	TNK1	7232673	7232673	0.019000	0.18553	0.432000	0.26747	0.022000	0.10575	-0.037000	0.12164	0.735000	0.32537	0.655000	0.94253	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003985			44	43		226	221	1		1	1		0	0	57	0		1	9.999959e-01	0	47	0	52	0	44	226
USH1G	124590	broad.mit.edu	37	17	72916088	72916088	+	Silent	SNP	G	G	A	rs397515345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	281					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGACGCTGTCCTCGTCCG	0.697																																						ENST00000319642.1	1.000000	0.300000	6.500000e-01	3.800000e-01	0.490000	0.538103	0.490000	0.470000																									HN1/USH1G(2)	0				14						c.(841-843)gaC>gaT		Usher syndrome 1G (autosomal recessive)							38.0	48.0	44.0					17																	72916088		2200	4296	6496	SO:0001819	synonymous_variant	124590	0	0					g.chr17:72916088G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.843C>T	chr17.hg19:g.72916088G>A		0						p.D281D	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	1	2	3	2.013100	Q495M9	USH1G_HUMAN		2	1025	-	all_lung(278;0.172)|Lung NSC(278;0.207)		Q8N251	Silent	SNP	ENST00000319642.1	1	1	hg19	c.843C>T	CCDS32725.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	0	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-18.423750	1	0.170000	NM_173477			19	19		456	446	0		1			0	0	75	0		9.999891e-01	0	0	0	0	0	0	19	456
OTOP2	92736	broad.mit.edu	37	17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000580223.1	+	4	632	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N			Q7RTS6	OTOP2_HUMAN	otopetrin 2	201						integral component of membrane (GO:0016021)				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)					TCCTACAGCAGTTCTCACAGC	0.582																																						ENST00000580223.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(601-603)aGt>aAt		otopetrin 2							112.0	81.0	91.0					17																	72923852		2203	4300	6503	SO:0001583	missense	92736	0	0					g.chr17:72923852G>A	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.602G>A	chr17.hg19:g.72923852G>A	ENSP00000463837:p.Ser201Asn	0					OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N	p.S201N			1	2	3	2.013100	Q7RTS6	OTOP2_HUMAN		4	632	+	all_lung(278;0.172)|Lung NSC(278;0.207)			Missense_Mutation	SNP	ENST00000580223.1	1	1	hg19	c.602G>A	CCDS11708.1	1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482573	0.12581	.	.	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.75	0.251	0.15540	4.75	0.251	0.15540	.	1.299010	0.04493	N	0.379935	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26189	-1.0110	10	0.17369	T	0.5	-15.6766	1.5731	0.02619	0.2565:0.1416:0.4567:0.1451	.	201	Q7RTS6	OTOP2_HUMAN	N	201	ENSP00000332528:S201N	ENSP00000332528:S201N	S	+	2	0	0	OTOP2	70435447	70435447	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.431000	0.21444	-0.002000	0.14469	0.561000	0.74099	AGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_178160			33	33		143	142	1		1			0	0	43	0		1	0	0	0	0	0	0	33	143
OTOP3	347741	broad.mit.edu	37	17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	78						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCTGCTGCGGCGGGACCG	0.652																																						ENST00000328801.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(232-234)Cgg>Tgg		otopetrin 3							24.0	29.0	28.0					17																	72937646		2200	4297	6497	SO:0001583	missense	347741	1	121326	37				g.chr17:72937646C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.232C>T	chr17.hg19:g.72937646C>T	ENSP00000328090:p.Arg78Trp	0						p.R78W	NM_178233.1	NP_839947.1	1	2	3	2.013100	Q7RTS5	OTOP3_HUMAN		2	232	+	all_lung(278;0.151)|Lung NSC(278;0.185)			Missense_Mutation	SNP	ENST00000328801.4	1	1	hg19	c.232C>T	CCDS11709.1	1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301549	0.60195	.	.	ENSG00000182938	ENST00000328801	T	0.10099	2.91	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.227351	0.26166	N	0.025943	T	0.28995	0.0720	L	0.57536	1.79	0.41707	D	0.989438	D	0.89917	1.0	D	0.67725	0.953	T	0.02161	-1.1203	10	0.87932	D	0	-14.6963	16.1603	0.81700	0.0:1.0:0.0:0.0	.	78	Q7RTS5	OTOP3_HUMAN	W	78	ENSP00000328090:R78W	ENSP00000328090:R78W	R	+	1	2	2	OTOP3	70449241	70449241	0.908000	0.30866	0.997000	0.53966	0.243000	0.25628	1.560000	0.36331	2.230000	0.72887	0.462000	0.41574	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	1	0	1		2	2	2	0		0	0	48		48	30	1	2.060000	-20.000000	1	0.170000	NM_178233			46	26		221	138	1		1			0	0	48	0		1	0	0	0	0	0	0	46	221
SLC16A5	9121	broad.mit.edu	37	17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	347					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592																																						ENST00000450736.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1039-1041)Gcc>Acc		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						240.0	203.0	216.0					17																	73096797		2203	4300	6503	SO:0001583	missense	9121	1	121412	31				g.chr17:73096797G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1039G>A	chr17.hg19:g.73096797G>A	ENSP00000390564:p.Ala347Thr	0					SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T	p.A347T			1	2	3	2.013100	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)	4	1454	+	all_lung(278;0.226)		B4E288	Missense_Mutation	SNP	ENST00000450736.2	1	1	hg19	c.1039G>A	CCDS11713.1	1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579837	0.46006	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.51325	0.71;0.71;0.71	4.72	2.63	0.31362	4.72	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289746	0.38326	N	0.001732	T	0.39172	0.1068	M	0.72894	2.215	0.26880	N	0.967566	B;B	0.30439	0.279;0.279	B;B	0.26693	0.066;0.072	T	0.23691	-1.0181	10	0.24483	T	0.36	.	5.3555	0.16059	0.1431:0.0:0.6756:0.1813	.	387;347	B4E288;O15375	.;MOT6_HUMAN	T	347;347;387	ENSP00000330141:A347T;ENSP00000390564:A347T;ENSP00000440212:A387T	ENSP00000330141:A347T	A	+	1	0	0	SLC16A5	70608392	70608392	0.999000	0.42202	0.355000	0.25773	0.842000	0.47809	3.272000	0.51616	0.426000	0.26116	0.561000	0.74099	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_004695			73	74		322	319	1		1	1		0	0	77	0		1	9.999499e-01	0	20	0	46	0	73	322
NLGN2	57555	broad.mit.edu	37	17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	166					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P166L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502																																						ENST00000302926.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P166L(1)	endometrium(1)	22						c.(496-498)cCg>cTg		neuroligin 2							74.0	73.0	73.0					17																	7315515		2203	4300	6503	SO:0001583	missense	57555	2	121412	34				g.chr17:7315515C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.497C>T	chr17.hg19:g.7315515C>T	ENSP00000305288:p.Pro166Leu	0					NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	p.P166L	NM_020795.2	NP_065846.1	1	2	3	2.017774	Q8NFZ4	NLGN2_HUMAN		2	570	+		Prostate(122;0.157)	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	1	1	hg19	c.497C>T	CCDS11103.1	1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446465	0.25987	.	.	ENSG00000169992	ENST00000302926	T	0.67345	-0.26	5.47	5.47	0.80525	5.47	5.47	0.80525	Carboxylesterase, type B (1);	1.061950	0.07418	N	0.893516	T	0.51534	0.1680	N	0.08118	0	0.53688	D	0.999978	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33141	T	0.24	.	15.1723	0.72884	0.0:1.0:0.0:0.0	.	166	Q8NFZ4	NLGN2_HUMAN	L	166	ENSP00000305288:P166L	ENSP00000305288:P166L	P	+	2	0	0	NLGN2	7256239	7256239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.133000	0.57983	2.729000	0.93468	0.555000	0.69702	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.584332	1	0.170000	NM_020795			70	67		320	312	0		1	1		0	0	76	0		1	9.995779e-01	0	9	0	46	0	70	320
NLGN2	57555	broad.mit.edu	37	17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587																																						ENST00000302926.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1141-1143)Ggc>Agc		neuroligin 2							202.0	157.0	172.0					17																	7318933		2203	4300	6503	SO:0001583	missense	57555	0	0					g.chr17:7318933G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1141G>A	chr17.hg19:g.7318933G>A	ENSP00000305288:p.Gly381Ser	0					NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	p.G381S	NM_020795.2	NP_065846.1	1	2	3	2.017774	Q8NFZ4	NLGN2_HUMAN		6	1214	+		Prostate(122;0.157)	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	1	1	hg19	c.1141G>A	CCDS11103.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948818	0.92660	.	.	ENSG00000169992	ENST00000302926	D	0.86030	-2.06	5.41	5.41	0.78517	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	381	Q8NFZ4	NLGN2_HUMAN	S	381	ENSP00000305288:G381S	ENSP00000305288:G381S	G	+	1	0	0	NLGN2	7259657	7259657	1.000000	0.71417	0.928000	0.36995	0.911000	0.54048	9.507000	0.97996	2.826000	0.97356	0.561000	0.74099	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-2.716802	1	0.170000	NM_020795			128	129		597	585	1		1	1		0	0	136	0		1	9.999667e-01	0	14	0	56	0	128	597
NT5C	30833	broad.mit.edu	37	17	73126651	73126651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000245552.2	-	5	625	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NT5C_ENST00000579082.1_5'Flank|NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000582170.1_Missense_Mutation_p.A178V	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	180					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	CAGGAGAGCAGCCGTCTCCTT	0.617											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(538-540)Ctg>Ttg		5', 3'-nucleotidase, cytosolic	Lamivudine(DB00709)						75.0	71.0	72.0					17																	73126651		2203	4300	6503	SO:0001819	synonymous_variant	30833	0	0					g.chr17:73126651G>A	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.538C>T	chr17.hg19:g.73126651G>A		0		OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000582170.1_Missense_Mutation_p.A178V|NT5C_ENST00000579082.1_5'Flank	p.L180L	NM_014595.2	NP_055410.1	1	2	3	2.013100	Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)	5	625	-	all_lung(278;0.14)|Lung NSC(278;0.168)		Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	1	1	hg19	c.538C>T	CCDS11715.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000				119	119		432	425	1		1	1		0	0	98	0		1	1	0	62	0	113	0	119	432
NUP85	79902	broad.mit.edu	37	17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000245544.4	+	8	684	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	205					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652																																						ENST00000245544.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(613-615)Ctg>Atg		nucleoporin 85kDa							39.0	43.0	42.0					17																	73221213		2203	4300	6503	SO:0001583	missense	79902	0	0					g.chr17:73221213C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.613C>A	chr17.hg19:g.73221213C>A	ENSP00000245544:p.Leu205Met	0					NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M|NUP85_ENST00000579298.1_Intron	p.L205M	NM_024844.3	NP_079120.1	1	2	3	2.013100	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)	8	684	+	all_lung(278;0.14)|Lung NSC(278;0.168)		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	1	1	hg19	c.613C>A	CCDS32730.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728647	0.48833	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74553	-0.3627	9	0.52906	T	0.07	-11.6694	18.4662	0.90755	0.0:1.0:0.0:0.0	.	205	Q9BW27	NUP85_HUMAN	M	205;159;159;37	.	ENSP00000245544:L205M	L	+	1	2	2	NUP85	70732808	70732808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.588000	0.87417	0.650000	0.86243	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	1	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-20.000000	1	0.170000	NM_024844			80	80		358	347	1		1	1		0	0	76	0		1	9.999459e-01	0	12	0	54	0	80	358
NUP85	79902	broad.mit.edu	37	17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000245544.4	+	18	1915	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	615					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTGTGCATGGAGAATCTGAT	0.507																																						ENST00000245544.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1843-1845)gGa>gTa		nucleoporin 85kDa							181.0	151.0	161.0					17																	73231271		2203	4300	6503	SO:0001583	missense	79902	0	0					g.chr17:73231271G>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1844G>T	chr17.hg19:g.73231271G>T	ENSP00000245544:p.Gly615Val	0					NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V	p.G615V	NM_024844.3	NP_079120.1	1	2	3	2.013100	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)	18	1915	+	all_lung(278;0.14)|Lung NSC(278;0.168)		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	1	1	hg19	c.1844G>T	CCDS32730.1	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280888	0.23392	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	-2.26	0.06867	5.12	-2.26	0.06867	.	1.114660	0.06493	N	0.734919	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	9	0.34782	T	0.22	-0.0383	9.9975	0.41909	0.1515:0.594:0.2545:0.0	.	569;615	B4DMQ3;Q9BW27	.;NUP85_HUMAN	V	615;569;218	.	ENSP00000245544:G615V	G	+	2	0	0	NUP85	70742866	70742866	0.011000	0.17503	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.503000	0.06586	0.462000	0.41574	GGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-2.867263	1	0.170000	NM_024844			46	45		238	232	1		1	1		0	0	49	0		1	1	0	34	0	116	0	46	238
SPEM1	374768	broad.mit.edu	37	17	7323765	7323765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	ENST00000323675.3	+	1	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	21					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AACAGCAACAGCTGCCAGGAC	0.607																																						ENST00000323675.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				12						c.(61-63)aGc>aTc		spermatid maturation 1							31.0	35.0	34.0					17																	7323765		1941	4152	6093	SO:0001583	missense	374768	0	0					g.chr17:7323765G>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.62G>T	chr17.hg19:g.7323765G>T	ENSP00000315554:p.Ser21Ile	0					RP11-104H15.7_ENST00000575310.1_RNA	p.S21I	NM_199339.2	NP_955371.2	1	2	3	2.017774	Q8N4L4	SPEM1_HUMAN		1	87	+		Prostate(122;0.173)		Missense_Mutation	SNP	ENST00000323675.3	1	1	hg19	c.62G>T	CCDS42254.1	1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893486	0.52121	.	.	ENSG00000181323	ENST00000323675	T	0.56275	0.47	4.97	-9.92	0.00455	4.97	-9.92	0.00455	.	0.622559	0.14047	N	0.345034	T	0.32704	0.0838	L	0.38175	1.15	0.09310	N	0.99999	P	0.43701	0.815	B	0.40009	0.316	T	0.40213	-0.9575	10	0.66056	D	0.02	-4.0837	9.1542	0.36983	0.163:0.3567:0.4802:0.0	.	21	Q8N4L4	SPEM1_HUMAN	I	21	ENSP00000315554:S21I	ENSP00000315554:S21I	S	+	2	0	0	SPEM1	7264489	7264489	0.029000	0.19370	0.844000	0.33320	0.930000	0.56654	-1.444000	0.02403	-1.398000	0.02066	0.491000	0.48974	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_199339			18	18		57	56	1		1			0	0	12	0		9.999919e-01	0	0	0	0	0	0	18	57
GGA3	23163	broad.mit.edu	37	17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000245541.6	-	17	2311	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582486.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	699	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				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)			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)			TCCCCCAGGGCGAAGGTCAGC	0.627											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2095-2097)Gcc>Acc		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							71.0	60.0	64.0					17																	73234437		2203	4300	6503	SO:0001583	missense	23163	1	121412	27				g.chr17:73234437C>T	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.2095G>A	chr17.hg19:g.73234437C>T	ENSP00000245541:p.Ala699Thr	0		OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_ENST00000582486.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000578348.1_Intron	p.A699T	NM_138619.2	NP_619525.1	1	2	3	2.013100	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)	17	2311	-			B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	1	1	hg19	c.2095G>A	CCDS11717.1	1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634461	0.14322	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38887	1.11;1.11;1.11	5.08	4.08	0.47627	5.08	4.08	0.47627	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.463089	0.25601	N	0.029542	T	0.09113	0.0225	N	0.00151	-1.98	0.80722	D	1	B;B	0.20368	0.044;0.031	B;B	0.10450	0.003;0.005	T	0.19745	-1.0296	10	0.06757	T	0.87	-8.533	9.4961	0.38989	0.0:0.8053:0.0:0.1947	.	666;699	Q9NZ52-2;Q9NZ52	.;GGA3_HUMAN	T	699;666;627;577	ENSP00000245541:A699T;ENSP00000326575:A666T;ENSP00000446421:A577T	ENSP00000245541:A699T	A	-	1	0	0	GGA3	70746032	70746032	0.908000	0.30866	0.995000	0.50966	0.983000	0.72400	1.007000	0.29860	1.293000	0.44690	0.563000	0.77884	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_138619			60	59		237	233	1		1	1		0	0	67	0		1	9.999937e-01	0	13	0	60	0	60	237
SPEM1	374768	broad.mit.edu	37	17	7323996	7323996	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	65					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567																																						ENST00000323675.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(193-195)atT>atC		spermatid maturation 1							101.0	103.0	103.0					17																	7323996		1943	4133	6076	SO:0001819	synonymous_variant	374768	4	120892	36				g.chr17:7323996T>C	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.195T>C	chr17.hg19:g.7323996T>C		0					RP11-104H15.7_ENST00000575310.1_RNA	p.I65I	NM_199339.2	NP_955371.2	1	2	3	2.017774	Q8N4L4	SPEM1_HUMAN		2	220	+		Prostate(122;0.173)		Silent	SNP	ENST00000323675.3	1	1	hg19	c.195T>C	CCDS42254.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_199339			84	83		326	319	0		1			0	0	88	0		1	0	0	0	0	0	0	84	326
SPEM1	374768	broad.mit.edu	37	17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T	rs376973970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	183					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617																																						ENST00000323675.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				12						c.(547-549)Cct>Tct		spermatid maturation 1							42.0	46.0	45.0					17																	7324541		1933	4120	6053	SO:0001583	missense	374768	0	0					g.chr17:7324541C>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.547C>T	chr17.hg19:g.7324541C>T	ENSP00000315554:p.Pro183Ser	0					RP11-104H15.7_ENST00000575310.1_RNA	p.P183S	NM_199339.2	NP_955371.2	1	2	3	2.017774	Q8N4L4	SPEM1_HUMAN		3	572	+		Prostate(122;0.173)		Missense_Mutation	SNP	ENST00000323675.3	1	1	hg19	c.547C>T	CCDS42254.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.428|6.428	0.447118|0.447118	0.12223|0.12223	.|.	.|.	ENSG00000181323|ENSG00000181323	ENST00000323383|ENST00000323675	.|.	.|.	.|.	5.77|5.77	-0.132|-0.132	0.13489|0.13489	5.77|5.77	-0.132|-0.132	0.13489|0.13489	.|.	.|1.207430	.|0.06081	.|N	.|0.661900	.|T	.|0.29389	.|0.0732	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	.|T	.|0.26643	.|-1.0097	.|9	.|0.42905	.|T	.|0.14	.|-0.5037	6.5152|6.5152	0.22244|0.22244	0.0:0.3983:0.4283:0.1734|0.0:0.3983:0.4283:0.1734	.|.	.|183	.|Q8N4L4	.|SPEM1_HUMAN	.|S	-1|183	.|.	.|ENSP00000315554:P183S	.|P	+|+	.|1	.|0	.|0	SPEM1|SPEM1	7265265|7265265	7265265|7265265	0.001000|0.001000	0.12720|0.12720	0.055000|0.055000	0.19348|0.19348	0.003000|0.003000	0.03518|0.03518	-0.510000|-0.510000	0.06328|0.06328	-0.208000|-0.208000	0.10171|0.10171	-0.150000|-0.150000	0.13652|0.13652	.|CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_199339			34	34		203	197	1		1			0	0	55	0		1	0	0	0	0	0	0	34	203
C17orf74	201243	broad.mit.edu	37	17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T	rs554324110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	241						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17145	0.0		0.0	False		,,,				2504	0.0					ENST00000333870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(721-723)Cgc>Tgc		chromosome 17 open reading frame 74							43.0	48.0	46.0					17																	7330031		2143	4249	6392	SO:0001583	missense	201243	3	121158	31				g.chr17:7330031C>T	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.721C>T	chr17.hg19:g.7330031C>T	ENSP00000328061:p.Arg241Cys	0					C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.R241C	NM_175734.4	NP_783861.3	1	2	3	2.017774	Q0P670	CQ074_HUMAN		3	795	+		Prostate(122;0.157)		Missense_Mutation	SNP	ENST00000333870.3	1	1	hg19	c.721C>T	CCDS42255.1	1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474133	0.63737	.	.	ENSG00000184560	ENST00000333870	T	0.39056	1.1	3.51	3.51	0.40186	3.51	3.51	0.40186	.	0.145422	0.31589	N	0.007383	T	0.50205	0.1602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52563	-0.8559	10	0.87932	D	0	0.0672	10.8416	0.46720	0.0:1.0:0.0:0.0	.	241	Q0P670	CQ074_HUMAN	C	241	ENSP00000328061:R241C	ENSP00000328061:R241C	R	+	1	0	0	C17orf74	7270755	7270755	0.638000	0.27225	0.996000	0.52242	0.902000	0.53008	0.813000	0.27225	2.248000	0.74166	0.491000	0.48974	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	1	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-3.443751	1	0.170000	NM_175734			48	46		194	193	1		1			0	0	27	0		1	0	0	0	0	0	0	48	194
GGA3	23163	broad.mit.edu	37	17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000245541.6	-	6	682	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	156	Binds to ARF1 (in long isoform).				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)			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)			GAGGGGATCAGCGTCCTATCC	0.547																																						ENST00000245541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(466-468)Ctg>Atg		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							223.0	186.0	198.0					17																	73239206		2203	4300	6503	SO:0001583	missense	23163	0	0					g.chr17:73239206G>T	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.466C>A	chr17.hg19:g.73239206G>T	ENSP00000245541:p.Leu156Met	0					GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M	p.L156M	NM_138619.2	NP_619525.1	1	2	3	2.013100	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)	6	682	-			B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	1	1	hg19	c.466C>A	CCDS11717.1	1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166671	0.38217	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52295	2.04;0.67	4.85	3.88	0.44766	4.85	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.63141	0.2486	M	0.63843	1.955	0.80722	D	1	D;P;D	0.89917	1.0;0.723;0.988	D;P;P	0.87578	0.998;0.64;0.798	T	0.61407	-0.7069	10	0.33141	T	0.24	-16.506	13.0458	0.58925	0.0775:0.0:0.9225:0.0	.	34;123;156	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	156;123;84;34	ENSP00000245541:L156M;ENSP00000326575:L123M	ENSP00000245541:L156M	L	-	1	2	2	GGA3	70750801	70750801	0.999000	0.42202	0.986000	0.45419	0.984000	0.73092	2.840000	0.48215	1.256000	0.44068	0.563000	0.77884	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_138619			95	91		444	432	1		1	1		0	0	118	0		1	9.999130e-01	0	13	0	52	0	95	444
KIAA0195	9772	broad.mit.edu	37	17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1090						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607																																						ENST00000314256.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998982	0.990000	1.000000																										0				42						c.(3268-3270)cGt>cAt		KIAA0195							120.0	111.0	114.0					17																	73492836		2203	4300	6503	SO:0001583	missense	9772	4	121412	40				g.chr17:73492836G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3269G>A	chr17.hg19:g.73492836G>A	ENSP00000313885:p.Arg1090His	0					AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H	p.R1090H	NM_014738.4	NP_055553.3	1	2	3	2.013100	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	25	3663	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	1	1	hg19	c.3269G>A	CCDS32732.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852943	0.71719	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89681	-2.55;-2.55	6.04	6.04	0.98038	6.04	6.04	0.98038	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.994;0.998;0.604;0.996	D	0.91800	0.5451	10	0.48119	T	0.1	-21.4522	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1100;1100;1090;1090	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1090;1100	ENSP00000313885:R1090H;ENSP00000364397:R1100H	ENSP00000313885:R1090H	R	+	2	0	0	KIAA0195	71004431	71004431	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.834000	0.92094	2.873000	0.98535	0.561000	0.74099	CGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-13.346540	1	0.170000	NM_014738			69	69		580	566	1		1	1		0	0	125	0		1	9.989482e-01	0	12	0	74	0	69	580
KIAA0195	9772	broad.mit.edu	37	17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1197						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612																																						ENST00000314256.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3589-3591)aGc>aTc		KIAA0195							107.0	85.0	92.0					17																	73494356		2203	4300	6503	SO:0001583	missense	9772	0	0					g.chr17:73494356G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3590G>T	chr17.hg19:g.73494356G>T	ENSP00000313885:p.Ser1197Ile	0					AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	p.S1197I	NM_014738.4	NP_055553.3	1	2	3	2.013100	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	28	3984	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	1	1	hg19	c.3590G>T	CCDS32732.1	1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223097	0.09863	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96300	-3.97;-3.97	5.58	2.12	0.27331	5.58	2.12	0.27331	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.295187	0.38897	N	0.001525	D	0.83184	0.5199	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.006;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.001	T	0.72121	-0.4386	10	0.16420	T	0.52	-15.048	1.103	0.01688	0.1932:0.1406:0.3847:0.2815	.	1207;1207;1197;1197	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1197;1207	ENSP00000313885:S1197I;ENSP00000364397:S1207I	ENSP00000313885:S1197I	S	+	2	0	0	KIAA0195	71005951	71005951	0.013000	0.17824	0.950000	0.38849	0.072000	0.16883	0.325000	0.19628	1.370000	0.46153	0.313000	0.20887	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_014738			76	75		321	317	1		1	1		0	0	69	0		1	9.999999e-01	0	29	0	73	0	76	321
KIAA0195	9772	broad.mit.edu	37	17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632																																						ENST00000314256.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3712-3714)Gcc>Acc		KIAA0195							72.0	66.0	68.0					17																	73494598		2203	4300	6503	SO:0001583	missense	9772	1	121394	33				g.chr17:73494598G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3712G>A	chr17.hg19:g.73494598G>A	ENSP00000313885:p.Ala1238Thr	0					AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	p.A1238T	NM_014738.4	NP_055553.3	1	2	3	2.013100	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	29	4106	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	1	1	hg19	c.3712G>A	CCDS32732.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823393	0.50739	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96232	-3.95;-3.95	5.26	4.3	0.51218	5.26	4.3	0.51218	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.185058	0.45606	N	0.000351	D	0.88175	0.6366	N	0.11427	0.14	0.35385	D	0.790261	P;P;B;P	0.48162	0.906;0.792;0.002;0.826	B;B;B;B	0.37650	0.255;0.063;0.001;0.104	D	0.88180	0.2870	10	0.21540	T	0.41	-20.8489	8.6701	0.34145	0.0762:0.0:0.7733:0.1505	.	1248;1248;1238;1238	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1238;1248	ENSP00000313885:A1238T;ENSP00000364397:A1248T	ENSP00000313885:A1238T	A	+	1	0	0	KIAA0195	71006193	71006193	0.989000	0.36119	0.871000	0.34182	0.991000	0.79684	2.266000	0.43320	1.217000	0.43442	0.467000	0.42956	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_014738			52	52		224	216	1		1	1		0	0	58	0		1	9.999999e-01	0	33	0	73	0	52	224
KIAA0195	9772	broad.mit.edu	37	17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1303						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGGCCTGGAGGACGTGCCC	0.632																																						ENST00000314256.7	1.000000	0.260000	6.700000e-01	3.600000e-01	0.480000	0.529550	0.480000	0.450000																										0				42						c.(3907-3909)gAg>gGg		KIAA0195							97.0	76.0	83.0					17																	73495073		2203	4300	6503	SO:0001583	missense	9772	0	0					g.chr17:73495073A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3908A>G	chr17.hg19:g.73495073A>G	ENSP00000313885:p.Glu1303Gly	0					AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	p.E1303G	NM_014738.4	NP_055553.3	1	2	3	2.013100	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	31	4302	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	1	1	hg19	c.3908A>G	CCDS32732.1	0	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311005	0.40895	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95980	-3.87;-3.87	5.88	3.6	0.41247	5.88	3.6	0.41247	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.432209	0.25267	N	0.031907	D	0.82820	0.5120	N	0.01705	-0.755	0.21719	N	0.999576	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.70722	-0.4794	10	0.13108	T	0.6	-14.9627	6.6047	0.22720	0.7138:0.1475:0.1387:0.0	.	1313;1313;1333;1303	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	G	1303;1313	ENSP00000313885:E1303G;ENSP00000364397:E1313G	ENSP00000313885:E1303G	E	+	2	0	0	KIAA0195	71006668	71006668	0.445000	0.25657	1.000000	0.80357	0.955000	0.61496	1.345000	0.33953	2.246000	0.74042	0.533000	0.62120	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	0	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-13.987930	1	0.170000	NM_014738			13	12		324	316	0		1	1		0	0	60	0		9.994717e-01	8.806743e-01	0	3	0	93	0	13	324
KIAA0195	9772	broad.mit.edu	37	17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A	rs370635593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1305						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622																																						ENST00000314256.7	1.000000	0.900000	1	9.900000e-01	0.990000	0.994472	0.990000	1.000000																										0				42						c.(3913-3915)Gtg>Atg		KIAA0195		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	79.0	87.0		3913	5.9	1.0	17		87	0,8600		0,0,4300	no	missense	KIAA0195	NM_014738.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1305/1357	73495078	1,13005	2203	4300	6503	SO:0001583	missense	9772	8	121406	38				g.chr17:73495078G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3913G>A	chr17.hg19:g.73495078G>A	ENSP00000313885:p.Val1305Met	0					AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	p.V1305M	NM_014738.4	NP_055553.3	1	2	3	2.013100	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	31	4307	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	1	1	hg19	c.3913G>A	CCDS32732.1	1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672607	0.47781	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96011	-3.88;-3.88	5.88	5.88	0.94601	5.88	5.88	0.94601	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.062160	0.64402	D	0.000012	D	0.93390	0.7892	N	0.22421	0.69	0.46078	D	0.998854	P;D;D;D	0.61080	0.952;0.986;0.977;0.989	P;P;P;P	0.55923	0.714;0.681;0.591;0.787	D	0.92320	0.5865	10	0.62326	D	0.03	-22.7561	7.7162	0.28706	0.1903:0.0:0.8097:0.0	.	1315;1315;1335;1305	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	M	1305;1315	ENSP00000313885:V1305M;ENSP00000364397:V1315M	ENSP00000313885:V1305M	V	+	1	0	0	KIAA0195	71006673	71006673	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.945000	0.63568	2.782000	0.95742	0.655000	0.94253	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_014738			36	35		305	296	1		1	1		0	0	58	0		1	9.995822e-01	0	10	0	92	0	36	305
CASKIN2	57513	broad.mit.edu	37	17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm (GO:0005737)		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTCTCTGCGGCTCTCAG	0.657																																						ENST00000321617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Deletion - In frame(1)	p.L1159_A1162del(1)	pancreas(1)	18						c.(3484-3486)gCa>gTa		CASK interacting protein 2							69.0	79.0	75.0					17																	73497582		2194	4263	6457	SO:0001583	missense	57513	0	0					g.chr17:73497582G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3485C>T	chr17.hg19:g.73497582G>A	ENSP00000325355:p.Ala1162Val	0					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	p.A1162V	NM_020753.3	NP_065804.2	1	2	3	2.013100	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	19	4071	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	1	1	hg19	c.3485C>T	CCDS11723.1	1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645679	0.47258	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52983	0.64;0.79	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.28267	0.0698	N	0.13043	0.29	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.10894	-1.0610	10	0.06365	T	0.9	.	12.9176	0.58214	0.0741:0.0:0.9259:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	V	1162;1080	ENSP00000325355:A1162V;ENSP00000406963:A1080V	ENSP00000325355:A1162V	A	-	2	0	0	CASKIN2	71009177	71009177	1.000000	0.71417	0.825000	0.32803	0.914000	0.54420	5.221000	0.65272	2.641000	0.89580	0.591000	0.81541	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_020753			177	175		739	726	1		1	1		0	0	145	0		1	9.996472e-01	0	21	0	29	0	177	739
CASKIN2	57513	broad.mit.edu	37	17	73498457	73498457	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73498457T>C	ENST00000321617.3	-	18	3284	c.2698A>G	c.(2698-2700)Aca>Gca	p.T900A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	900	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGCCCTGTGGCCCCTTCC	0.731																																						ENST00000321617.3	1.000000	0.610000	1	9.100000e-01	0.990000	0.958367	0.990000	1.000000																										0				18						c.(2698-2700)Aca>Gca		CASK interacting protein 2							4.0	5.0	4.0					17																	73498457		1946	3872	5818	SO:0001583	missense	57513	0	0					g.chr17:73498457T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2698A>G	chr17.hg19:g.73498457T>C	ENSP00000325355:p.Thr900Ala	0					CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	p.T900A	NM_020753.3	NP_065804.2	1	2	3	2.013100	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	18	3284	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	0	1	hg19	c.2698A>G	CCDS11723.1	1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.384394	0.01194	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69175	-0.38;-0.2	4.87	-9.73	0.00512	4.87	-9.73	0.00512	.	1.558810	0.04076	N	0.308754	T	0.44932	0.1317	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.24483	T	0.36	.	3.5114	0.07709	0.132:0.097:0.2668:0.5041	.	900	Q8WXE0	CSKI2_HUMAN	A	900;818	ENSP00000325355:T900A;ENSP00000406963:T818A	ENSP00000325355:T900A	T	-	1	0	0	CASKIN2	71010052	71010052	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-2.834000	0.00741	-4.320000	0.00056	-0.723000	0.03601	ACA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-16.440330	1	0.170000	NM_020753			7	6		57	56	0		1	1		0	0	9	0		9.805385e-01	3.859059e-01	0	2	0	9	0	7	57
CASKIN2	57513	broad.mit.edu	37	17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	647						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCGATGGCCATCAGCTCC	0.701																																						ENST00000321617.3	1.000000	0.630000	1	8.800000e-01	0.990000	0.954808	0.990000	1.000000																										0				18						c.(1939-1941)Gcc>Acc		CASK interacting protein 2							15.0	13.0	14.0					17																	73499216		2195	4286	6481	SO:0001583	missense	57513	0	0					g.chr17:73499216C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1939G>A	chr17.hg19:g.73499216C>T	ENSP00000325355:p.Ala647Thr	0					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	p.A647T	NM_020753.3	NP_065804.2	1	2	3	2.013100	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	18	2525	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	0	1	hg19	c.1939G>A	CCDS11723.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163119	0.57476	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.41	5.47	3.48	0.39840	5.47	3.48	0.39840	.	0.145311	0.31747	N	0.007130	T	0.60971	0.2310	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54105	-0.8343	10	0.34782	T	0.22	.	8.4734	0.32999	0.0:0.7039:0.0:0.2961	.	647	Q8WXE0	CSKI2_HUMAN	T	647;565	ENSP00000325355:A647T;ENSP00000406963:A565T	ENSP00000325355:A647T	A	-	1	0	0	CASKIN2	71010811	71010811	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.742000	0.26216	0.680000	0.31366	0.655000	0.94253	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-16.384210	1	0.170000	NM_020753			10	10		91	90	1		1	1		0	0	11	0		9.972246e-01	7.644788e-01	0	8	0	19	0	10	91
CASKIN2	57513	broad.mit.edu	37	17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	395						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCTGTCTGGGCTGAG	0.672																																						ENST00000321617.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				18						c.(1183-1185)gAc>gGc		CASK interacting protein 2							31.0	27.0	28.0					17																	73500901		2203	4298	6501	SO:0001583	missense	57513	0	0					g.chr17:73500901T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1184A>G	chr17.hg19:g.73500901T>C	ENSP00000325355:p.Asp395Gly	0					CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	p.D395G	NM_020753.3	NP_065804.2	1	2	3	2.013100	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	11	1770	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	1	1	hg19	c.1184A>G	CCDS11723.1	1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885184	0.72410	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69435	-0.4;-0.23	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.326389	0.22124	N	0.064290	T	0.46190	0.1380	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.36378	0.223	T	0.40040	-0.9584	10	0.19147	T	0.46	.	10.1333	0.42691	0.0:0.0:0.1677:0.8323	.	395	Q8WXE0	CSKI2_HUMAN	G	395;313	ENSP00000325355:D395G;ENSP00000406963:D313G	ENSP00000325355:D395G	D	-	2	0	0	CASKIN2	71012496	71012496	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.020000	0.59435	0.459000	0.35465	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_020753			29	28		129	126	1		1	1		0	0	41	0		1	9.692286e-01	0	7	0	21	0	29	129
TSEN54	283989	broad.mit.edu	37	17	73512857	73512857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSEN54_ENST00000580013.1_3'UTR|CASKIN2_ENST00000581870.1_5'Flank|CASKIN2_ENST00000321617.3_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	29					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771																																						ENST00000333213.6	1.000000	0.380000	1	5.800000e-01	0.850000	0.813583	0.850000	1.000000																										0				13						c.(85-87)cgG>cgA		TSEN54 tRNA splicing endonuclease subunit							7.0	9.0	8.0					17																	73512857		1419	3248	4667	SO:0001819	synonymous_variant	283989	0	0					g.chr17:73512857G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.87G>A	chr17.hg19:g.73512857G>A		0					CASKIN2_ENST00000581870.1_5'Flank|TSEN54_ENST00000580013.1_3'UTR|CASKIN2_ENST00000321617.3_5'Flank	p.R29R	NM_207346.2	NP_997229.2	1	2	3	2.013100	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	2	123	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	0	1	hg19	c.87G>A	CCDS11724.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-11.691300	1	0.170000	NM_207346			7	7		97	96	0		1			0	0	12	0		9.811729e-01	0	0	0	0	0	0	7	97
TSEN54	283989	broad.mit.edu	37	17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	187					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627																																						ENST00000333213.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(559-561)Gat>Aat		TSEN54 tRNA splicing endonuclease subunit							91.0	80.0	84.0					17																	73517527		2203	4300	6503	SO:0001583	missense	283989	0	0					g.chr17:73517527G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.559G>A	chr17.hg19:g.73517527G>A	ENSP00000327487:p.Asp187Asn	0						p.D187N	NM_207346.2	NP_997229.2	1	2	3	2.013100	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	7	595	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	1	1	hg19	c.559G>A	CCDS11724.1	1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979469	0.34942	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	5.63	3.62	0.41486	5.63	3.62	0.41486	.	0.277358	0.40818	N	0.001015	T	0.58235	0.2108	M	0.62723	1.935	0.33845	D	0.631864	D	0.57899	0.981	P	0.51701	0.677	T	0.70317	-0.4905	10	0.51188	T	0.08	-9.0635	11.425	0.50004	0.0682:0.1264:0.8054:0.0	.	187	Q7Z6J9	SEN54_HUMAN	N	86;187	ENSP00000327487:D187N	ENSP00000327487:D187N	D	+	1	0	0	TSEN54	71029122	71029122	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	3.460000	0.53028	0.723000	0.32274	0.655000	0.94253	GAT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_207346			62	61		279	274	1		1	1		0	0	85	0		1	1	0	65	0	117	0	62	279
TSEN54	283989	broad.mit.edu	37	17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	328					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAACGTGGCTGGGCGGGAG	0.672																																						ENST00000333213.6	1.000000	0.570000	1	9.300000e-01	0.990000	0.957768	0.990000	1.000000																										0				13						c.(982-984)gCt>gTt		TSEN54 tRNA splicing endonuclease subunit							16.0	14.0	15.0					17																	73518145		2190	4286	6476	SO:0001583	missense	283989	0	0					g.chr17:73518145C>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.983C>T	chr17.hg19:g.73518145C>T	ENSP00000327487:p.Ala328Val	0						p.A328V	NM_207346.2	NP_997229.2	1	2	3	2.013100	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)	8	1019	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	0	1	hg19	c.983C>T	CCDS11724.1	1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842806	0.32606	.	.	ENSG00000182173	ENST00000333213	T	0.58210	0.35	5.33	3.34	0.38264	5.33	3.34	0.38264	.	0.768822	0.12434	N	0.469320	T	0.43809	0.1264	L	0.50333	1.59	0.09310	N	0.999999	B	0.22480	0.07	B	0.18561	0.022	T	0.29882	-0.9997	10	0.12430	T	0.62	1.1449	10.9413	0.47275	0.0:0.8465:0.0:0.1535	.	328	Q7Z6J9	SEN54_HUMAN	V	328	ENSP00000327487:A328V	ENSP00000327487:A328V	A	+	2	0	0	TSEN54	71029740	71029740	0.000000	0.05858	0.043000	0.18650	0.715000	0.41141	-0.025000	0.12413	0.607000	0.29982	0.561000	0.74099	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-11.260710	1	0.170000	NM_207346			5	5		36	35	1		1	1		0	0	14	0		9.377104e-01	9.949420e-01	0	27	0	59	0	5	36
LLGL2	3993	broad.mit.edu	37	17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	341					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622																																						ENST00000392550.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1021-1023)Gca>Aca		lethal giant larvae homolog 2 (Drosophila)							41.0	41.0	41.0					17																	73560573		2202	4300	6502	SO:0001583	missense	3993	0	0					g.chr17:73560573G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1021G>A	chr17.hg19:g.73560573G>A	ENSP00000376333:p.Ala341Thr	0					LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T	p.A341T	NM_001031803.1	NP_001026973.1	1	2	3	2.013100	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)	10	1138	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	1	1	hg19	c.1021G>A	CCDS32733.1	1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588842	0.46110	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.27256	2.77;2.77;1.68	4.89	4.89	0.63831	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.496878	0.23571	N	0.046747	T	0.11537	0.0281	N	0.08118	0	0.29145	N	0.878746	B;B;B;B;B	0.28128	0.201;0.167;0.001;0.002;0.004	B;B;B;B;B	0.31946	0.138;0.085;0.004;0.007;0.005	T	0.21008	-1.0258	10	0.02654	T	1	-1.1271	10.0042	0.41946	0.0:0.1377:0.7013:0.161	.	330;330;341;341;341	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	341;341;341;330	ENSP00000167462:A341T;ENSP00000376333:A341T;ENSP00000364375:A341T	ENSP00000167462:A341T	A	+	1	0	0	LLGL2	71072168	71072168	1.000000	0.71417	0.994000	0.49952	0.110000	0.19582	4.457000	0.60088	2.543000	0.85770	0.561000	0.74099	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1		2	2	2	0		0	0	61		61	58	1	2.060000	-20.000000	1	0.170000	NM_004524			58	58		301	291	1		1	1		0	0	61	0		1	1	0	353	0	413	0	58	301
LLGL2	3993	broad.mit.edu	37	17	73566151	73566151	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000577200.1_Silent_p.R563R|LLGL2_ENST00000167462.5_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	563					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667																																						ENST00000392550.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				31						c.(1687-1689)cgC>cgA		lethal giant larvae homolog 2 (Drosophila)							29.0	28.0	28.0					17																	73566151		2200	4299	6499	SO:0001819	synonymous_variant	3993	0	0					g.chr17:73566151C>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1689C>A	chr17.hg19:g.73566151C>A		0					LLGL2_ENST00000577200.1_Silent_p.R563R|LLGL2_ENST00000167462.5_Silent_p.R563R	p.R563R	NM_001031803.1	NP_001026973.1	1	2	3	2.013100	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)	15	1806	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	1	1	hg19	c.1689C>A	CCDS32733.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_004524			26	26		130	126	1		1	1		0	0	30	0		9.999999e-01	1	0	61	0	102	0	26	130
ZBTB4	57659	broad.mit.edu	37	17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	616	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647																																						ENST00000311403.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999506	0.990000	1.000000																										0				36						c.(1846-1848)Cgc>Tgc		zinc finger and BTB domain containing 4							45.0	31.0	36.0					17																	7366455		2201	4300	6501	SO:0001583	missense	57659	0	0					g.chr17:7366455G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1846C>T	chr17.hg19:g.7366455G>A	ENSP00000307858:p.Arg616Cys	0					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	p.R616C	NM_020899.3	NP_065950.2	1	2	3	2.017774	Q9P1Z0	ZBTB4_HUMAN		4	2185	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	0	1	hg19	c.1846C>T	CCDS11107.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338633	0.60963	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.51817	0.69;0.69	4.87	3.86	0.44501	4.87	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.64907	0.2641	M	0.69358	2.11	0.48511	D	0.999669	D	0.89917	1.0	D	0.85130	0.997	T	0.66779	-0.5837	10	0.54805	T	0.06	-14.8235	13.619	0.62126	0.0:0.0:0.8449:0.1551	.	616	Q9P1Z0	ZBTB4_HUMAN	C	616	ENSP00000307858:R616C;ENSP00000369973:R616C	ENSP00000307858:R616C	R	-	1	0	0	ZBTB4	7307179	7307179	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.648000	0.37271	2.533000	0.85409	0.462000	0.41574	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_020899			16	16		80	78	0		1	1		0	0	9	0		9.999524e-01	9.999993e-01	0	29	0	119	0	16	80
ZBTB4	57659	broad.mit.edu	37	17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	421					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632																																						ENST00000311403.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1261-1263)Cgg>Tgg		zinc finger and BTB domain containing 4							82.0	91.0	88.0					17																	7367040		2203	4300	6503	SO:0001583	missense	57659	0	0					g.chr17:7367040G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1261C>T	chr17.hg19:g.7367040G>A	ENSP00000307858:p.Arg421Trp	0					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	p.R421W	NM_020899.3	NP_065950.2	1	2	3	2.017774	Q9P1Z0	ZBTB4_HUMAN		4	1600	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	1	1	hg19	c.1261C>T	CCDS11107.1	1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370297	0.61624	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	2.78	0.32641	4.92	2.78	0.32641	.	0.169883	0.38897	N	0.001539	T	0.10551	0.0258	L	0.27053	0.805	0.39854	D	0.973289	D	0.89917	1.0	D	0.79108	0.992	T	0.11616	-1.0580	10	0.87932	D	0	-14.3833	11.3811	0.49757	0.0:0.0:0.6748:0.3252	.	421	Q9P1Z0	ZBTB4_HUMAN	W	421	ENSP00000307858:R421W;ENSP00000369973:R421W	ENSP00000307858:R421W	R	-	1	2	2	ZBTB4	7307764	7307764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.996000	0.40776	1.274000	0.44362	0.456000	0.33151	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	1	0	1		2	2	2	0		0	0	150		150	146	1	2.060000	-20.000000	1	0.170000	NM_020899			139	138		596	581	1		1	1		0	0	150	0		1	1	0	15	0	120	0	139	596
LLGL2	3993	broad.mit.edu	37	17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	660					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692																																						ENST00000392550.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998109	0.990000	1.000000																										0				31						c.(1978-1980)aGc>aTc		lethal giant larvae homolog 2 (Drosophila)							21.0	19.0	20.0					17																	73566533		2189	4288	6477	SO:0001583	missense	3993	0	0					g.chr17:73566533G>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1979G>T	chr17.hg19:g.73566533G>T	ENSP00000376333:p.Ser660Ile	0					LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	p.S660I	NM_001031803.1	NP_001026973.1	1	2	3	2.013100	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)	16	2096	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	0	1	hg19	c.1979G>T	CCDS32733.1	1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147517	0.37923	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.65364	-0.15;-0.15	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.999	P;D;D;D;D	0.87578	0.872;0.996;0.998;0.993;0.979	T	0.82030	-0.0659	10	0.62326	D	0.03	-0.551	18.2389	0.89960	0.0:0.0:1.0:0.0	.	287;649;649;660;660	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	I	660;660;649	ENSP00000167462:S660I;ENSP00000376333:S660I	ENSP00000167462:S660I	S	+	2	0	0	LLGL2	71078128	71078128	1.000000	0.71417	0.937000	0.37676	0.141000	0.21300	9.801000	0.99128	2.314000	0.78098	0.549000	0.68633	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-19.628550	1	0.170000	NM_004524			10	10		44	43	1		1	1		0	0	14	0		9.975686e-01	9.999994e-01	0	65	0	112	0	10	44
ITGB4	3691	broad.mit.edu	37	17	73723936	73723936	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000339591.3_Splice_Site_p.A157T|ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000449880.2_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	157	VWFA.				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)			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)			GCAGAACCTGGGTACGGCAGG	0.617																																						ENST00000200181.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				43						c.(469-471)Gct>Act		integrin, beta 4							50.0	49.0	49.0					17																	73723936		2203	4300	6503	SO:0001630	splice_region_variant	3691	0	0					g.chr17:73723936G>A		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.469+1G>A	chr17.hg19:g.73723936G>A		0					ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000339591.3_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000449880.2_Splice_Site_p.A157T	p.A157T	NM_000213.3	NP_000204.3	1	2	3	2.013100	P16144	ITB4_HUMAN	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)	5	656	+	all_cancers(13;1.5e-07)		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	1	0	hg19	c.469G>A	CCDS11727.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799179	0.50208	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97850	-4.57;-4.57;-4.57	5.31	5.31	0.75309	5.31	5.31	0.75309	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.77313	2.365	0.80722	D	1	P;P;D;D	0.71674	0.928;0.875;0.998;0.998	P;P;D;D	0.72338	0.672;0.581;0.977;0.977	D	0.99840	1.1061	10	0.87932	D	0	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	157;157;157;157	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	T	73;157;157;157	ENSP00000200181:A157T;ENSP00000344079:A157T;ENSP00000400217:A157T	ENSP00000200181:A157T	A	+	1	0	0	ITGB4	71235531	71235531	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	9.467000	0.97671	2.500000	0.84329	0.591000	0.81541	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		29	29		136	133	1		1	1		0	0	52	0		1	1	0	124	0	56	0	29	136
ITGB4	3691	broad.mit.edu	37	17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	321	VWFA.				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)			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)			AACATCATCCCCATCTTTGCT	0.617																																						ENST00000200181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(961-963)cCc>cAc		integrin, beta 4							144.0	108.0	120.0					17																	73726545		2203	4300	6503	SO:0001583	missense	3691	0	0					g.chr17:73726545C>A		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.962C>A	chr17.hg19:g.73726545C>A	ENSP00000200181:p.Pro321His	0					ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	p.P321H	NM_000213.3	NP_000204.3	1	2	3	2.013100	P16144	ITB4_HUMAN	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)	8	1149	+	all_cancers(13;1.5e-07)		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	1	1	hg19	c.962C>A	CCDS11727.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004601	0.54254	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97688	-4.49;-4.49;-4.49	5.6	5.6	0.85130	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	321;321;321;321	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	237;321;321;321	ENSP00000200181:P321H;ENSP00000344079:P321H;ENSP00000400217:P321H	ENSP00000200181:P321H	P	+	2	0	0	ITGB4	71238140	71238140	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.673000	0.83973	2.632000	0.89209	0.563000	0.77884	CCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-2.444330	0	0.170000				76	75		437	427	1		1	1		0	0	82	0		1	1	0	249	0	67	0	76	437
ITGB4	3691	broad.mit.edu	37	17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					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)			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)			TGCTGGAGGAGGCCTTCAATG	0.617																																						ENST00000200181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1081-1083)gaG>gaT		integrin, beta 4							81.0	82.0	82.0					17																	73727036		2203	4300	6503	SO:0001583	missense	3691	0	0					g.chr17:73727036G>T		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.1083G>T	chr17.hg19:g.73727036G>T	ENSP00000200181:p.Glu361Asp	0					ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	p.E361D	NM_000213.3	NP_000204.3	1	2	3	2.013100	P16144	ITB4_HUMAN	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)	9	1270	+	all_cancers(13;1.5e-07)		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	1	1	hg19	c.1083G>T	CCDS11727.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861215	0.32884	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97553	-4.43;-4.43;-4.43	5.42	-3.46	0.04767	5.42	-3.46	0.04767	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.92789	0.7707	N	0.22421	0.69	0.23859	N	0.996646	B;P;P;D	0.55800	0.097;0.929;0.942;0.973	B;B;P;P	0.53401	0.099;0.399;0.634;0.725	D	0.87441	0.2395	10	0.24483	T	0.36	.	3.4322	0.07433	0.3887:0.0992:0.411:0.101	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	277;361;361;361	ENSP00000200181:E361D;ENSP00000344079:E361D;ENSP00000400217:E361D	ENSP00000200181:E361D	E	+	3	2	2	ITGB4	71238631	71238631	0.062000	0.20869	0.993000	0.49108	0.945000	0.59286	-0.468000	0.06656	-0.199000	0.10317	0.557000	0.71058	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000				106	104		446	437	1		1	1		0	0	89	0		1	1	0	300	0	72	0	106	446
ITGB4	3691	broad.mit.edu	37	17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1094					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)			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)			ACCTGGGCCAGCCCCACTCCA	0.637																																						ENST00000200181.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998906	0.990000	1.000000																										0				43						c.(3280-3282)caG>caT		integrin, beta 4							27.0	30.0	29.0					17																	73745092		2202	4300	6502	SO:0001583	missense	3691	0	0					g.chr17:73745092G>T		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.3282G>T	chr17.hg19:g.73745092G>T	ENSP00000200181:p.Gln1094His	0					ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	p.Q1094H	NM_000213.3	NP_000204.3	1	2	3	2.013100	P16144	ITB4_HUMAN	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)	27	3469	+	all_cancers(13;1.5e-07)		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	1	1	hg19	c.3282G>T	CCDS11727.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899867	0.33535	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.27402	1.67;1.67;1.67	5.45	-1.39	0.08997	5.45	-1.39	0.08997	.	0.230210	0.37348	N	0.002134	T	0.21227	0.0511	N	0.24115	0.695	0.30210	N	0.797787	P;P;P	0.51057	0.941;0.744;0.835	P;B;P	0.50860	0.652;0.252;0.45	T	0.17077	-1.0381	10	0.72032	D	0.01	.	2.7314	0.05228	0.5264:0.1284:0.2149:0.1304	.	1094;1094;1094	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1094	ENSP00000200181:Q1094H;ENSP00000344079:Q1094H;ENSP00000400217:Q1094H	ENSP00000200181:Q1094H	Q	+	3	2	2	ITGB4	71256687	71256687	0.422000	0.25473	0.998000	0.56505	0.939000	0.58152	-0.305000	0.08188	0.041000	0.15688	0.650000	0.86243	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-3.326972	1	0.170000				22	22		141	139	1		1	1		0	0	23	0		9.999991e-01	1	0	66	0	324	0	22	141
ITGB4	3691	broad.mit.edu	37	17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1595	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			CCCAACCACTCCTACGTGTTC	0.657																																						ENST00000200181.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(4783-4785)tCc>tAc		integrin, beta 4							104.0	106.0	105.0					17																	73752585		2203	4300	6503	SO:0001583	missense	3691	0	0					g.chr17:73752585C>A		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.4784C>A	chr17.hg19:g.73752585C>A	ENSP00000200181:p.Ser1595Tyr	0					ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	p.S1595Y	NM_000213.3	NP_000204.3	1	2	3	2.013100	P16144	ITB4_HUMAN	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)	36	4971	+	all_cancers(13;1.5e-07)		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	1	1	hg19	c.4784C>A	CCDS11727.1	1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153050	0.57259	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.58210	0.35;0.35;0.35	5.19	5.19	0.71726	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.78049	2.395	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	0.77981	-0.2383	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	1578;1525;1595	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1595;1578;1578	ENSP00000200181:S1595Y;ENSP00000344079:S1578Y;ENSP00000400217:S1578Y	ENSP00000200181:S1595Y	S	+	2	0	0	ITGB4	71264180	71264180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.590000	0.87494	0.455000	0.32223	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-3.144316	1	0.170000				121	118		629	616	1		1	1		0	0	118	0		1	1	0	81	0	401	0	121	629
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A	rs549768303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0					ENST00000207549.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.985191	0.990000	1.000000																										0				29						c.(1708-1710)Cgc>Tgc		unc-13 homolog D (C. elegans)							35.0	33.0	33.0					17																	73831747		2203	4300	6503	SO:0001583	missense	201294	5	121408	34	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	g.chr17:73831747G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1708C>T	chr17.hg19:g.73831747G>A	ENSP00000207549:p.Arg570Cys	0					UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	p.R570C	NM_199242.2	NP_954712.1	1	2	3	2.013100	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)	19	2087	-			B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	1	1	hg19	c.1708C>T	CCDS11730.1	1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583604	0.13749	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.88	2.84	0.33178	4.88	2.84	0.33178	Munc13 homology 1 (1);	0.768652	0.12175	N	0.492658	T	0.57725	0.2073	L	0.34521	1.04	0.41761	D	0.98971	B;P	0.47841	0.0;0.901	B;B	0.40329	0.0;0.326	T	0.48433	-0.9036	10	0.38643	T	0.18	-6.1973	8.9429	0.35740	0.1557:0.6371:0.2072:0.0	.	570;570	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	570	ENSP00000207549:R570C;ENSP00000388093:R570C	ENSP00000207549:R570C	R	-	1	0	0	UNC13D	71343342	71343342	0.998000	0.40836	0.958000	0.39756	0.082000	0.17680	0.612000	0.24283	0.398000	0.25338	-0.424000	0.05967	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	XM_113950			21	21		180	176	1		1	1		0	0	38	0		9.999978e-01	9.912624e-01	0	7	0	61	0	21	180
WBP2	23558	broad.mit.edu	37	17	73844721	73844721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000591399.1	-	5	751	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000590221.1_Silent_p.S109S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	109					cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAACTTGTAGGAAGCAGAGC	0.517											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000591399.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999113	0.990000	1.000000																										0				7						c.(325-327)tcC>tcT		WW domain binding protein 2							54.0	46.0	48.0					17																	73844721		2203	4300	6503	SO:0001819	synonymous_variant	23558	1	121410	28				g.chr17:73844721G>A	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.327C>T	chr17.hg19:g.73844721G>A		0		OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1148	WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S	p.S109S			1	2	3	2.013100	Q969T9	WBP2_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)	5	751	-			O95638	Silent	SNP	ENST00000591399.1	1	1	hg19	c.327C>T	CCDS11731.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_012478			19	19		112	109	1		1	1		0	0	33	0		9.999924e-01	1	0	100	0	472	0	19	112
TRIM47	91107	broad.mit.edu	37	17	73871062	73871062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.G235G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597																																						ENST00000254816.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1417-1419)ggC>ggT		tripartite motif containing 47							63.0	60.0	61.0					17																	73871062		2203	4300	6503	SO:0001819	synonymous_variant	91107	5	121410	37				g.chr17:73871062G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1419C>T	chr17.hg19:g.73871062G>A		0					RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.G235G	p.G473G	NM_033452.2	NP_258411.2	1	2	3	2.013100	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)	6	1445	-			Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	1	1	hg19	c.1419C>T	CCDS32737.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				54	54		253	246	1		1	1		0	0	61	0		1	1	0	67	0	124	0	54	253
TRIM65	201292	broad.mit.edu	37	17	73888881	73888881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	155						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGCCTTCGGCCTGGGTGG	0.657																																						ENST00000269383.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(463-465)gcC>gcT		tripartite motif containing 65							47.0	42.0	43.0					17																	73888881		2203	4300	6503	SO:0001819	synonymous_variant	201292	0	0					g.chr17:73888881G>A	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.465C>T	chr17.hg19:g.73888881G>A		0						p.A155A	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	1	2	3	2.013100	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)	2	530	-			Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	1	1	hg19	c.465C>T	CCDS11732.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.465|0.465	-0.887240|-0.887240	0.02511|0.02511	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000543309|ENST00000540128	.|.	.|.	.|.	4.74|4.74	-9.49|-9.49	0.00587|0.00587	4.74|4.74	-9.49|-9.49	0.00587|0.00587	.|.	.|.	.|.	.|.	.|.	T|.	0.17534|.	0.0421|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14559|.	-1.0468|.	4|.	.|.	.|.	.|.	.|.	4.94|4.94	0.13960|0.13960	0.5911:0.1913:0.1173:0.1003|0.5911:0.1913:0.1173:0.1003	.|.	.|.	.|.	.|.	L|X	29|147	.|.	.|.	P|R	-|-	2|1	0|2	0|2	TRIM65|TRIM65	71400476|71400476	71400476|71400476	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.938000|-2.938000	0.00684|0.00684	-2.416000|-2.416000	0.00567|0.00567	0.556000|0.556000	0.70494|0.70494	CCG|CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.304153	1	0.170000	NM_173547			32	32		143	141	1		1	1		0	0	45	0		1	9.991146e-01	0	6	0	46	0	32	143
MRPL38	64978	broad.mit.edu	37	17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	334						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCCAGAAGCTGGTGGAAG	0.592																																						ENST00000309352.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.992767	0.990000	1.000000																										0				5						c.(1000-1002)Ctt>Ttt		mitochondrial ribosomal protein L38							31.0	27.0	29.0					17																	73895245		2196	4289	6485	SO:0001583	missense	64978	0	0					g.chr17:73895245G>A	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1000C>T	chr17.hg19:g.73895245G>A	ENSP00000308275:p.Leu334Phe	0					MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000585475.1_5'Flank	p.L334F	NM_032478.3	NP_115867.2	1	2	3	2.013100	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)	8	1537	-			B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	0	1	hg19	c.1000C>T	CCDS11733.2	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049424	0.75846	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.23147	1.92;1.92	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.281503	0.32533	N	0.005974	T	0.38957	0.1060	L	0.60455	1.87	0.42239	D	0.991927	D	0.65815	0.995	P	0.59221	0.854	T	0.18178	-1.0345	10	0.52906	T	0.07	-3.2241	8.862	0.35263	0.2108:0.0:0.7892:0.0	.	334	Q96DV4	RM38_HUMAN	F	334;150	ENSP00000308275:L334F;ENSP00000387085:L150F	ENSP00000308275:L334F	L	-	1	0	0	MRPL38	71406840	71406840	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.441000	0.44864	2.380000	0.81148	0.511000	0.50034	CTT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-17.078360	1	0.170000	NM_032478			9	9		51	51	1		1	1		0	0	12	0		9.954347e-01	9.999995e-01	0	81	0	166	0	9	51
MRPL38	64978	broad.mit.edu	37	17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	165						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGTGGCACCGTGGAAC	0.627																																						ENST00000309352.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(493-495)Gcc>Acc		mitochondrial ribosomal protein L38							80.0	60.0	67.0					17																	73897891		2203	4300	6503	SO:0001583	missense	64978	0	0					g.chr17:73897891C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.493G>A	chr17.hg19:g.73897891C>T	ENSP00000308275:p.Ala165Thr	0					MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000585475.1_5'UTR	p.A165T	NM_032478.3	NP_115867.2	1	2	3	2.013100	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)	4	1030	-			B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	1	1	hg19	c.493G>A	CCDS11733.2	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331508	0.81690	.	.	ENSG00000204316	ENST00000309352	T	0.23552	1.9	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63143	-0.6703	10	0.87932	D	0	0.849	19.23	0.93834	0.0:1.0:0.0:0.0	.	165	Q96DV4	RM38_HUMAN	T	165	ENSP00000308275:A165T	ENSP00000308275:A165T	A	-	1	0	0	MRPL38	71409486	71409486	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	7.349000	0.79376	2.544000	0.85801	0.650000	0.86243	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_032478			36	36		164	160	1		1	1		0	0	34	0		1	1	0	61	0	148	0	36	164
FBF1	85302	broad.mit.edu	37	17	73915865	73915865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000389570.4_Silent_p.S660S|FBF1_ENST00000319129.5_Silent_p.S659S			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	660					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)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627																																						ENST00000586717.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				4						c.(1978-1980)tcG>tcA		Fas (TNFRSF6) binding factor 1							72.0	74.0	73.0					17																	73915865		2036	4187	6223	SO:0001819	synonymous_variant	85302	1	120966	30				g.chr17:73915865C>T	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.1980G>A	chr17.hg19:g.73915865C>T		0					FBF1_ENST00000389570.4_Silent_p.S660S|FBF1_ENST00000319129.5_Silent_p.S659S	p.S660S			1	2	3	2.013100	Q8TES7	FBF1_HUMAN		19	2253	-			B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	1	1	hg19	c.1980G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-19.997350	1	0.170000	NM_001080542			44	42		239	237	1		1	1		0	0	66	0		1	6.664925e-01	0	2	0	12	0	44	239
EVPL	2125	broad.mit.edu	37	17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T	rs192983471	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1910	Globular 2.				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)			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						TTCTTGGTGACGGGGTCCTCG	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17467	0.001		0.0	False		,,,				2504	0.0					ENST00000301607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(5728-5730)Gtc>Atc		envoplakin							62.0	54.0	57.0					17																	74003558		2203	4300	6503	SO:0001583	missense	2125	2	121412	35				g.chr17:74003558C>T	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.5728G>A	chr17.hg19:g.74003558C>T	ENSP00000301607:p.Val1910Ile	0					TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	p.V1910I	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		22	5981	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	1	1	hg19	c.5728G>A	CCDS11737.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.53	2.265785	0.40095	.	.	ENSG00000167880	ENST00000301607	T	0.73258	-0.73	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.125190	0.56097	D	0.000039	T	0.69242	0.3089	N	0.19112	0.55	0.33918	D	0.640524	B;D	0.71674	0.059;0.998	B;P	0.55011	0.029;0.766	T	0.71820	-0.4477	10	0.23302	T	0.38	-58.9386	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1932;1910	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1910	ENSP00000301607:V1910I	ENSP00000301607:V1910I	V	-	1	0	0	EVPL	71515153	71515153	0.682000	0.27624	0.973000	0.42090	0.878000	0.50629	1.257000	0.32932	2.564000	0.86499	0.561000	0.74099	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_001988			65	64		313	312	1		1	1		0	0	69	0		1	9.971227e-01	0	19	0	26	0	65	313
EVPL	2125	broad.mit.edu	37	17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1836	Globular 2.				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)			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						CACTTGTTGTCTGTGGTTGTG	0.612																																						ENST00000301607.3	1.000000	0.830000	1	9.200000e-01	0.990000	0.972548	0.990000	1.000000																										0				54						c.(5506-5508)Gac>Aac		envoplakin							139.0	145.0	143.0					17																	74003780		2203	4300	6503	SO:0001583	missense	2125	0	0					g.chr17:74003780C>T	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.5506G>A	chr17.hg19:g.74003780C>T	ENSP00000301607:p.Asp1836Asn	0					TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	p.D1836N	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		22	5759	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	1	1	hg19	c.5506G>A	CCDS11737.1	1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446603	0.63178	.	.	ENSG00000167880	ENST00000301607	T	0.70986	-0.53	5.48	4.51	0.55191	5.48	4.51	0.55191	.	0.103125	0.64402	D	0.000005	T	0.78444	0.4284	L	0.50333	1.59	0.38780	D	0.954754	D;B	0.89917	1.0;0.241	D;B	0.75484	0.986;0.178	T	0.78715	-0.2096	10	0.37606	T	0.19	-45.0987	12.4161	0.55494	0.0:0.86:0.0:0.14	.	1858;1836	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1836	ENSP00000301607:D1836N	ENSP00000301607:D1836N	D	-	1	0	0	EVPL	71515375	71515375	0.866000	0.29940	0.651000	0.29564	0.948000	0.59901	1.741000	0.38238	1.306000	0.44926	0.561000	0.74099	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	222		222	221	1	2.060000	-19.996880	1	0.170000	NM_001988			98	97		1049	1027	1		1	1		0	0	222	0		1	9.787562e-01	0	13	0	53	0	98	1049
EVPL	2125	broad.mit.edu	37	17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1165	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)			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						GCGTCGCGTTCTTGGTCCTCT	0.632																																						ENST00000301607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3493-3495)aaG>aaT		envoplakin							46.0	42.0	43.0					17																	74005791		2203	4300	6503	SO:0001583	missense	2125	0	0					g.chr17:74005791C>A	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.3495G>T	chr17.hg19:g.74005791C>A	ENSP00000301607:p.Lys1165Asn	0					EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	p.K1165N	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		22	3748	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	1	1	hg19	c.3495G>T	CCDS11737.1	1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119149	0.06838	.	.	ENSG00000167880	ENST00000301607	T	0.48836	0.8	5.14	3.11	0.35812	5.14	3.11	0.35812	.	0.763817	0.12829	N	0.435764	T	0.37972	0.1023	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.005;0.007	T	0.31336	-0.9947	10	0.51188	T	0.08	-14.3804	6.5517	0.22438	0.0:0.653:0.131:0.216	.	1187;1165	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1165	ENSP00000301607:K1165N	ENSP00000301607:K1165N	K	-	3	2	2	EVPL	71517386	71517386	0.497000	0.26067	0.002000	0.10522	0.011000	0.07611	0.718000	0.25866	0.559000	0.29153	0.485000	0.47835	AAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_001988			60	59		250	243	1		1	1		0	0	49	0		1	9.580066e-01	0	11	0	13	0	60	250
EVPL	2125	broad.mit.edu	37	17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	523	Globular 1.				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)			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						GCTTCTGGGCCTGTGGGTTGG	0.677																																						ENST00000301607.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999059	0.990000	1.000000																										0				54						c.(1567-1569)caG>caT		envoplakin							43.0	47.0	45.0					17																	74013961		2203	4300	6503	SO:0001583	missense	2125	0	0					g.chr17:74013961C>A	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.1569G>T	chr17.hg19:g.74013961C>A	ENSP00000301607:p.Gln523His	0					EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	p.Q523H	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		14	1822	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	1	1	hg19	c.1569G>T	CCDS11737.1	1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703153	0.30232	.	.	ENSG00000167880	ENST00000301607	T	0.68181	-0.31	4.88	0.285	0.15705	4.88	0.285	0.15705	.	0.177195	0.49916	N	0.000121	T	0.50240	0.1604	L	0.51914	1.62	0.34965	D	0.752622	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.40213	-0.9575	10	0.22706	T	0.39	-33.1096	4.0054	0.09598	0.3073:0.4617:0.0:0.231	.	545;523	B7ZLH8;Q92817	.;EVPL_HUMAN	H	523	ENSP00000301607:Q523H	ENSP00000301607:Q523H	Q	-	3	2	2	EVPL	71525556	71525556	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.576000	0.23744	0.584000	0.29591	-0.226000	0.12346	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-3.318798	1	0.170000	NM_001988			43	42		329	328	1		1	0		0	0	62	0		1	6.052887e-01	0	1	0	16	0	43	329
EVPL	2125	broad.mit.edu	37	17	74017770	74017770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	300	Globular 1.				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)			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						TGGGCCCCACCGCGGGGTGCC	0.726																																						ENST00000301607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(898-900)gcG>gcA		envoplakin							13.0	16.0	15.0					17																	74017770		2185	4264	6449	SO:0001819	synonymous_variant	2125	0	0					g.chr17:74017770C>T	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.900G>A	chr17.hg19:g.74017770C>T		0					EVPL_ENST00000586740.1_Silent_p.A300A	p.A300A	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		8	1153	-			A0AUV5	Silent	SNP	ENST00000301607.3	1	1	hg19	c.900G>A	CCDS11737.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_001988			29	28		95	94	0		1	1		0	0	18	0		1	9.258536e-01	0	5	0	12	0	29	95
EVPL	2125	broad.mit.edu	37	17	74017962	74017962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	ENST00000301607.3	-	7	1046	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	265	Globular 1.				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)			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						TACTCCCGCCGCACGCCCGCA	0.756																																						ENST00000301607.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999878	0.990000	1.000000																										0				54						c.(793-795)Cgg>Tgg		envoplakin							4.0	6.0	5.0					17																	74017962		1917	3916	5833	SO:0001583	missense	2125	1	115384	21				g.chr17:74017962G>A	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.793C>T	chr17.hg19:g.74017962G>A	ENSP00000301607:p.Arg265Trp	0					EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	p.R265W	NM_001988.2	NP_001979.2	1	2	3	2.013100	Q92817	EVPL_HUMAN		7	1046	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	0	1	hg19	c.793C>T	CCDS11737.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023501	0.75390	.	.	ENSG00000167880	ENST00000301607	T	0.36340	1.26	4.48	1.06	0.20224	4.48	1.06	0.20224	.	0.066524	0.64402	D	0.000011	T	0.55545	0.1927	M	0.72894	2.215	0.47737	D	0.999509	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.952	T	0.58346	-0.7652	10	0.87932	D	0	-28.1071	13.1488	0.59478	0.0:0.0:0.5953:0.4047	.	265;265	B7ZLH8;Q92817	.;EVPL_HUMAN	W	265	ENSP00000301607:R265W	ENSP00000301607:R265W	R	-	1	2	2	EVPL	71529557	71529557	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.253000	0.58791	0.035000	0.15519	0.563000	0.77884	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_001988			13	12		40	40	0		1	1		0	0	8	0		9.997264e-01	5.552602e-01	0	4	0	3	0	13	40
SRP68	6730	broad.mit.edu	37	17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000307877.2	-	7	939	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_ENST00000355113.5_Missense_Mutation_p.L159F|SRP68_ENST00000539137.1_Missense_Mutation_p.L222F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					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)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ATCTGCATGAGTTCATTGATG	0.418																																						ENST00000307877.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				23						c.(778-780)Ctc>Ttc		signal recognition particle 68kDa							83.0	83.0	83.0					17																	74056448		2203	4300	6503	SO:0001583	missense	6730	1	121412	26				g.chr17:74056448G>A	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.778C>T	chr17.hg19:g.74056448G>A	ENSP00000312066:p.Leu260Phe	0					SRP68_ENST00000539137.1_Missense_Mutation_p.L222F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	p.L260F	NM_014230.3	NP_055045.2	1	2	3	2.013100	Q9UHB9	SRP68_HUMAN		7	939	-			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	1	1	hg19	c.778C>T	CCDS11738.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710345	0.68730	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.23	4.25	0.50352	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.982	T	0.46884	-0.9159	10	0.42905	T	0.14	-17.7999	9.3472	0.38115	0.2081:0.0:0.7919:0.0	.	222;260	G3V1U4;Q9UHB9	.;SRP68_HUMAN	F	222;260;260;159	ENSP00000446136:L222F;ENSP00000312066:L260F;ENSP00000347233:L159F	ENSP00000312066:L260F	L	-	1	0	0	SRP68	71568043	71568043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.475000	0.45162	2.601000	0.87937	0.467000	0.42956	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_014230			33	33		193	189	1		1	1		0	0	50	0		1	1	0	64	0	214	0	33	193
POLR2A	5430	broad.mit.edu	37	17	7405894	7405894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7405894C>T	ENST00000322644.6	+	16	3029	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	877					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)			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)				AAGTACGACGCGACTGTGCGG	0.577																																						ENST00000322644.6	1.000000	0.300000	7.100000e-01	4.000000e-01	0.520000	0.566748	0.520000	0.490000																										0				50						c.(2629-2631)gCg>gTg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102.0	89.0	94.0					17																	7405894		2203	4300	6503	SO:0001583	missense	5430	0	0					g.chr17:7405894C>T			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.2630C>T	chr17.hg19:g.7405894C>T	ENSP00000314949:p.Ala877Val	0						p.A877V	NM_000937.4	NP_000928	1	2	3	2.017774	P24928	RPB1_HUMAN		16	3029	+		Prostate(122;0.173)	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	1	1	hg19	c.2630C>T	CCDS32548.1	0	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525135	0.44969	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67698	-0.28	5.82	5.82	0.92795	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 5 (1);	0.129663	0.49916	D	0.000131	T	0.66336	0.2779	L	0.43923	1.385	0.80722	D	1	P	0.38642	0.641	B	0.41666	0.363	T	0.69072	-0.5242	10	0.87932	D	0	-8.9664	18.8608	0.92271	0.0:1.0:0.0:0.0	.	877	P24928	RPB1_HUMAN	V	833;877	ENSP00000314949:A877V	ENSP00000314949:A877V	A	+	2	0	0	SLC35G6	7346618	7346618	1.000000	0.71417	0.183000	0.23137	0.125000	0.20455	4.287000	0.59001	2.761000	0.94854	0.655000	0.94253	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-17.151490	1	0.170000	NM_000937			17	17		391	383	0		1	1		0	0	57	0		9.999611e-01	9.857404e-01	0	5	0	156	0	17	391
SRP68	6730	broad.mit.edu	37	17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000307877.2	-	6	904	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_ENST00000355113.5_Missense_Mutation_p.A147E|SRP68_ENST00000539137.1_Missense_Mutation_p.A210E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	248					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)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AATATTATATGCACAATAGCG	0.443																																						ENST00000307877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(742-744)gCa>gAa		signal recognition particle 68kDa							198.0	184.0	189.0					17																	74057202		2203	4300	6503	SO:0001583	missense	6730	0	0					g.chr17:74057202G>T	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.743C>A	chr17.hg19:g.74057202G>T	ENSP00000312066:p.Ala248Glu	0					SRP68_ENST00000539137.1_Missense_Mutation_p.A210E|SRP68_ENST00000355113.5_Missense_Mutation_p.A147E	p.A248E	NM_014230.3	NP_055045.2	1	2	3	2.013100	Q9UHB9	SRP68_HUMAN		6	904	-			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	1	1	hg19	c.743C>A	CCDS11738.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566004	0.86439	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.36	4.37	0.52481	5.36	4.37	0.52481	Tetratricopeptide-like helical (1);	0.045681	0.85682	N	0.000000	T	0.52901	0.1763	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.35671	T	0.21	-10.5003	15.5106	0.75779	0.0:0.0:0.8604:0.1396	.	210;248	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	210;248;248;248;147	ENSP00000446136:A210E;ENSP00000312066:A248E;ENSP00000347233:A147E	ENSP00000307756:A248E	A	-	2	0	0	SRP68	71568797	71568797	1.000000	0.71417	0.852000	0.33557	0.950000	0.60333	7.903000	0.87398	1.361000	0.45981	0.462000	0.41574	GCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	1		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000	NM_014230			127	125		625	619	1		1	1		0	0	160	0		1	1	0	70	0	202	0	127	625
SRP68	6730	broad.mit.edu	37	17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000307877.2	-	4	672	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	171					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)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCACACAAGCGTTCCAATTCC	0.468																																						ENST00000307877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(511-513)Cgc>Tgc		signal recognition particle 68kDa							173.0	158.0	163.0					17																	74060107		2203	4300	6503	SO:0001583	missense	6730	7	121412	43				g.chr17:74060107G>A	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.511C>T	chr17.hg19:g.74060107G>A	ENSP00000312066:p.Arg171Cys	0					SRP68_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	p.R171C	NM_014230.3	NP_055045.2	1	2	3	2.013100	Q9UHB9	SRP68_HUMAN		4	672	-			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	1	1	hg19	c.511C>T	CCDS11738.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449076	0.84101	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.094954	0.64402	D	0.000002	T	0.67306	0.2879	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.56700	0.736;0.804	T	0.68573	-0.5373	9	0.62326	D	0.03	-14.7833	15.7708	0.78167	0.0:0.0:0.8555:0.1445	.	133;171	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	133;171;171;171;70	.	ENSP00000307756:R171C	R	-	1	0	0	SRP68	71571702	71571702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.615000	0.61190	2.753000	0.94483	0.585000	0.79938	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	0	0	0		18	10	2	1		1	1	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_014230			99	96		457	452	1		1	1		1	0	108	0		1	1	0	65	0	200	0	99	457
POLR2A	5430	broad.mit.edu	37	17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	961					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)			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)				GGATGCGGGAGGATCGGGAGG	0.612																																						ENST00000322644.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2881-2883)gaG>gaT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							132.0	127.0	129.0					17																	7406566		2203	4300	6503	SO:0001583	missense	5430	0	0					g.chr17:7406566G>T			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.2883G>T	chr17.hg19:g.7406566G>T	ENSP00000314949:p.Glu961Asp	0						p.E961D	NM_000937.4	NP_000928	1	2	3	2.017774	P24928	RPB1_HUMAN		17	3282	+		Prostate(122;0.173)	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	1	1	hg19	c.2883G>T	CCDS32548.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68025	-0.3	5.25	4.27	0.50696	5.25	4.27	0.50696	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.25992	0.78	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50591	-0.8810	10	0.40728	T	0.16	-15.1705	12.3295	0.55031	0.0844:0.0:0.9156:0.0	.	961	P24928	RPB1_HUMAN	D	917;961	ENSP00000314949:E961D	ENSP00000314949:E961D	E	+	3	2	2	SLC35G6	7347290	7347290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	1.557000	0.49525	0.655000	0.94253	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_000937			50	49		232	225	1		1	1		0	0	60	0		1	1	0	63	0	182	0	50	232
SRP68	6730	broad.mit.edu	37	17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000307877.2	-	4	639	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					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)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGGCTTTGCGTAGGCGAGAT	0.502																																						ENST00000307877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(478-480)Cgc>Tgc		signal recognition particle 68kDa							189.0	166.0	174.0					17																	74060140		2203	4300	6503	SO:0001583	missense	6730	1	121412	36				g.chr17:74060140G>A	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.478C>T	chr17.hg19:g.74060140G>A	ENSP00000312066:p.Arg160Cys	0					SRP68_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	p.R160C	NM_014230.3	NP_055045.2	1	2	3	2.013100	Q9UHB9	SRP68_HUMAN		4	639	-			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	1	1	hg19	c.478C>T	CCDS11738.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.495567	0.96355	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.83768	0.0218	9	0.87932	D	0	-20.1451	20.1099	0.97909	0.0:0.0:1.0:0.0	.	122;160	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	122;160;160;160;59	.	ENSP00000307756:R160C	R	-	1	0	0	SRP68	71571735	71571735	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	9.756000	0.98918	2.753000	0.94483	0.585000	0.79938	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	0		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_014230			125	122		523	512	1		1	1		0	0	130	0		1	1	0	85	0	218	0	125	523
GALR2	8811	broad.mit.edu	37	17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701																																						ENST00000329003.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(715-717)Ctc>Atc		galanin receptor 2							29.0	30.0	29.0					17																	74073063		2203	4298	6501	SO:0001583	missense	8811	0	0					g.chr17:74073063C>A	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.715C>A	chr17.hg19:g.74073063C>A	ENSP00000329684:p.Leu239Ile	0					ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	p.L239I	NM_003857.2	NP_003848.1	1	2	3	2.013100	O43603	GALR2_HUMAN		2	805	+			A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	1	1	hg19	c.715C>A	CCDS11739.1	1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650894	0.14516	.	.	ENSG00000182687	ENST00000329003	T	0.38401	1.14	4.85	-6.75	0.01738	4.85	-6.75	0.01738	GPCR, rhodopsin-like superfamily (1);	0.866516	0.09810	N	0.752895	T	0.14743	0.0356	N	0.10685	0.025	0.25763	N	0.98493	B	0.06786	0.001	B	0.12156	0.007	T	0.34825	-0.9813	10	0.17832	T	0.49	.	10.2836	0.43554	0.6392:0.1143:0.2464:0.0	.	239	O43603	GALR2_HUMAN	I	239	ENSP00000329684:L239I	ENSP00000329684:L239I	L	+	1	0	0	GALR2	71584658	71584658	0.363000	0.24989	0.113000	0.21522	0.948000	0.59901	-0.127000	0.10547	-1.413000	0.02027	0.462000	0.41574	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				36	35		162	155	1		1	0		0	0	38	0		1	3.497512e-02	0	1	0	1	0	36	162
EXOC7	23265	broad.mit.edu	37	17	74090663	74090663	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000335146.7	-	6	694		c.e6-1		EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000607838.1_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527																																						ENST00000335146.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.e6-1		exocyst complex component 7							100.0	97.0	98.0					17																	74090663		2203	4300	6503	SO:0001630	splice_region_variant	23265	0	0					g.chr17:74090663C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.641-1G>A	chr17.hg19:g.74090663C>T		0					EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000607838.1_Splice_Site				1	2	3	2.013100	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	6	694	-			B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Splice_Site	SNP	ENST00000335146.7	1	1	hg19		CCDS45782.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274432	0.59649	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	3.86	0.44501	4.84	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5218	0.61572	0.0:0.8435:0.1565:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	EXOC7	71602258	71602258	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	7.284000	0.78650	1.240000	0.43803	-0.312000	0.09012	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.314817	1	0.170000	NM_015219	Intron		80	78		358	349	1		1	1		0	0	77	0		1	1.576143e-01	0	2	0	2	0	80	358
FOXJ1	2302	broad.mit.edu	37	17	74133831	74133831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74133831C>A	ENST00000322957.6	-	3	1223	c.869G>T	c.(868-870)aGc>aTc	p.S290I	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	290					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGCAGGGTGCTGGGGGGCCG	0.716																																						ENST00000322957.6	1.000000	0.130000	5.900000e-01	2.200000e-01	0.360000	0.423841	0.360000	0.310000																										0				4						c.(868-870)aGc>aTc		forkhead box J1							12.0	15.0	14.0					17																	74133831		2055	4066	6121	SO:0001583	missense	2302	0	0					g.chr17:74133831C>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.869G>T	chr17.hg19:g.74133831C>A	ENSP00000323880:p.Ser290Ile	0					RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	p.S290I	NM_001454.3	NP_001445.2	1	2	3	2.013100	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	3	1223	-			O00630	Missense_Mutation	SNP	ENST00000322957.6	0	1	hg19	c.869G>T	CCDS32739.1	0	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095997	0.56075	.	.	ENSG00000129654	ENST00000322957	D	0.94613	-3.47	4.96	3.97	0.46021	4.96	3.97	0.46021	.	0.075688	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63843	1.955	0.58432	D	0.999999	D	0.54207	0.965	P	0.50537	0.643	D	0.92911	0.6347	10	0.52906	T	0.07	.	10.4846	0.44713	0.0:0.7901:0.1345:0.0755	.	290	Q92949	FOXJ1_HUMAN	I	290	ENSP00000323880:S290I	ENSP00000323880:S290I	S	-	2	0	0	FOXJ1	71645426	71645426	0.998000	0.40836	0.999000	0.59377	0.478000	0.33099	1.148000	0.31614	1.044000	0.40200	0.462000	0.41574	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-7.012228	1	0.170000	NM_001454			5	5		182	180	0		1	0		0	0	25	0		9.366180e-01	0	0	0	0	1	0	5	182
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	rs201495655		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21549	0.0		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999773	0.990000	1.000000																										0				25						c.(1327-1329)Gtg>Atg		ring finger protein 157							108.0	96.0	100.0					17																	74154560		2203	4300	6503	SO:0001583	missense	114804	18	121412	45				g.chr17:74154560C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1327G>A	chr17.hg19:g.74154560C>T	ENSP00000269391:p.Val443Met	0					RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	p.V443M	NM_052916.2	NP_443148.1	1	2	3	2.013100	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	13	1459	-			Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	1	1	hg19	c.1327G>A	CCDS32740.1	1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	0	RNF157	71666155	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-3.318985	1	0.170000	XM_290732			40	40		274	267	0		1	1		0	0	90	0		1	4.691811e-01	0	4	0	8	0	40	274
RNF157	114804	broad.mit.edu	37	17	74169839	74169839	+	Silent	SNP	G	G	A	rs201544317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	80			P -> H (in dbSNP:rs2289602).				zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16235	0.001		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				25						c.(238-240)ccC>ccT		ring finger protein 157							51.0	45.0	47.0					17																	74169839		2203	4300	6503	SO:0001819	synonymous_variant	114804	6	121402	37				g.chr17:74169839G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.240C>T	chr17.hg19:g.74169839G>A		0					RNF157_ENST00000319945.6_Silent_p.P80P	p.P80P	NM_052916.2	NP_443148.1	1	2	3	2.013100	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	3	372	-			Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	1	1	hg19	c.240C>T	CCDS32740.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	0		2	2	2	0		0	0	27		27	25	1	2.060000	-3.656616	1	0.170000	XM_290732			19	19		76	71	1		1	1		0	0	27	0		9.999927e-01	9.295254e-01	0	6	0	15	0	19	76
POLR2A	5430	broad.mit.edu	37	17	7417442	7417442	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1953	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			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)				CCAGCCCCACCTACAGTCTCA	0.662																																						ENST00000322644.6	1.000000	0.320000	8.400000e-01	4.400000e-01	0.590000	0.631286	0.590000	0.550000																										0				50						c.(5857-5859)acC>acA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							80.0	69.0	72.0					17																	7417442		2203	4300	6503	SO:0001819	synonymous_variant	5430	0	0					g.chr17:7417442C>A			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.5859C>A	chr17.hg19:g.7417442C>A		0						p.T1953T	NM_000937.4	NP_000928	1	2	3	2.017774	P24928	RPB1_HUMAN		29	6258	+		Prostate(122;0.173)	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	1	1	hg19	c.5859C>A	CCDS32548.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.337319	1	0.170000	NM_000937			13	12		263	251	0		1	1		0	0	74	0		9.994074e-01	9.999411e-01	0	17	0	349	0	13	263
RNF157	114804	broad.mit.edu	37	17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	74							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6	1.000000	0.900000	1	9.900000e-01	0.990000	0.994089	0.990000	1.000000																										0				25						c.(220-222)gCc>gTc		ring finger protein 157							48.0	42.0	44.0					17																	74169858		2203	4300	6503	SO:0001583	missense	114804	0	0					g.chr17:74169858G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.221C>T	chr17.hg19:g.74169858G>A	ENSP00000269391:p.Ala74Val	0					RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	p.A74V	NM_052916.2	NP_443148.1	1	2	3	2.013100	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	3	353	-			Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	1	1	hg19	c.221C>T	CCDS32740.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.264789	0.95399	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23552	1.9;1.9	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.786	P;P	0.59115	0.852;0.621	T	0.10405	-1.0631	10	0.41790	T	0.15	-25.5121	18.3016	0.90165	0.0:0.0:1.0:0.0	.	74;74	Q96PX1-2;Q96PX1	.;RN157_HUMAN	V	74;74;36	ENSP00000269391:A74V;ENSP00000321837:A74V	ENSP00000269391:A74V	A	-	2	0	0	RNF157	71681453	71681453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.699000	0.98703	2.389000	0.81357	0.591000	0.81541	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-19.981010	1	0.170000	XM_290732			13	12		85	81	1		1	1		0	0	23	0		9.995162e-01	6.564832e-01	0	7	0	9	0	13	85
QRICH2	84074	broad.mit.edu	37	17	74276157	74276157	+	Missense_Mutation	SNP	G	G	A	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	ENST00000262765.5	-	12	4386	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1403								p.R1403C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTGGGGGGCGCTCCCTGAGC	0.682													G|||	3	0.000599042	0.0015	0.0	5008	,	,		14927	0.0		0.0	False		,,,				2504	0.001					ENST00000262765.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1403C(1)	endometrium(1)	62						c.(4207-4209)Cgc>Tgc		glutamine rich 2		G	CYS/ARG	9,4385		0,9,2188	30.0	36.0	34.0		4207	5.6	0.9	17	dbSNP_134	34	19,8569		0,19,4275	yes	missense	QRICH2	NM_032134.1	180	0,28,6463	AA,AG,GG		0.2212,0.2048,0.2157	probably-damaging	1403/1664	74276157	28,12954	2197	4294	6491	SO:0001583	missense	84074	249	121376	55				g.chr17:74276157G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4207C>T	chr17.hg19:g.74276157G>A	ENSP00000262765:p.Arg1403Cys	0						p.R1403C	NM_032134.1	NP_115510.1	1	2	3	2.013100	Q9H0J4	QRIC2_HUMAN		12	4386	-			A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	1	0	hg19	c.4207C>T	CCDS32741.1	1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963400	0.34659	0.002048	0.002212	ENSG00000129646	ENST00000262765	T	0.09911	2.93	5.59	5.59	0.84812	5.59	5.59	0.84812	.	.	.	.	.	T	0.24122	0.0584	M	0.62723	1.935	0.37858	D	0.929631	D	0.71674	0.998	P	0.55667	0.781	T	0.01195	-1.1422	9	0.42905	T	0.14	-19.6363	15.1347	0.72555	0.0:0.0:0.8581:0.1419	.	1403	Q9H0J4	QRIC2_HUMAN	C	1403	ENSP00000262765:R1403C	ENSP00000262765:R1403C	R	-	1	0	0	QRICH2	71787752	71787752	0.001000	0.12720	0.892000	0.35008	0.018000	0.09664	0.765000	0.26546	2.635000	0.89317	0.655000	0.94253	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-2.912200	1	0.170000	NM_032134			83	81		378	372	1		1	0		0	0	84	0		1	3.323527e-02	0	0	0	2	0	83	378
QRICH2	84074	broad.mit.edu	37	17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	295										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGTTGGTCTGTGCTAGGT	0.498																																						ENST00000262765.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(883-885)Gac>Aac		glutamine rich 2							161.0	137.0	145.0					17																	74289427		2203	4300	6503	SO:0001583	missense	84074	0	0					g.chr17:74289427C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.883G>A	chr17.hg19:g.74289427C>T	ENSP00000262765:p.Asp295Asn	0						p.D295N	NM_032134.1	NP_115510.1	1	2	3	2.013100	Q9H0J4	QRIC2_HUMAN		4	1062	-			A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	1	1	hg19	c.883G>A	CCDS32741.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710551	0.30322	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.14893	2.47	3.55	2.55	0.30701	3.55	2.55	0.30701	.	.	.	.	.	T	0.25975	0.0633	L	0.52364	1.645	0.09310	N	1	D;P	0.63880	0.993;0.541	P;B	0.55391	0.775;0.098	T	0.08953	-1.0697	9	0.27082	T	0.32	-6.2065	10.9542	0.47347	0.0:0.8079:0.1921:0.0	.	295;295	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	295	ENSP00000262765:D295N	ENSP00000262765:D295N	D	-	1	0	0	QRICH2	71801022	71801022	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.136000	0.15974	1.042000	0.40150	0.563000	0.77884	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_032134			82	80		404	400	1		1	0		0	0	112	0		1	7.751325e-02	0	1	0	2	0	82	404
QRICH2	84074	broad.mit.edu	37	17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	150										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACGGGCCCTCGGCTGCTGCTG	0.552																																						ENST00000262765.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(448-450)cCg>cTg		glutamine rich 2		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	60.0	61.0	60.0		449	2.2	0.1	17	dbSNP_134	60	0,8600		0,0,4300	no	missense	QRICH2	NM_032134.1	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	150/1664	74289861	2,13004	2203	4300	6503	SO:0001583	missense	84074	2	121412	35				g.chr17:74289861G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.449C>T	chr17.hg19:g.74289861G>A	ENSP00000262765:p.Pro150Leu	0						p.P150L	NM_032134.1	NP_115510.1	1	2	3	2.013100	Q9H0J4	QRIC2_HUMAN		4	628	-			A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	1	1	hg19	c.449C>T	CCDS32741.1	1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447588	0.12223	4.54E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	3.23	2.25	0.28309	3.23	2.25	0.28309	.	.	.	.	.	T	0.06735	0.0172	L	0.47190	1.495	0.22858	N	0.998644	B;B	0.24882	0.113;0.059	B;B	0.16722	0.016;0.005	T	0.41431	-0.9509	9	0.11485	T	0.65	-0.8082	6.4366	0.21827	0.1354:0.0:0.8646:0.0	.	150;150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	150	ENSP00000262765:P150L	ENSP00000262765:P150L	P	-	2	0	0	QRICH2	71801456	71801456	0.001000	0.12720	0.056000	0.19401	0.031000	0.12232	0.176000	0.16782	0.930000	0.37217	0.563000	0.77884	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-3.801169	1	0.170000	NM_032134			76	77		289	282	1		1	0		0	0	51	0		1	4.447044e-02	0	0	0	2	0	76	289
PRPSAP1	5635	broad.mit.edu	37	17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	295					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)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498																																						ENST00000446526.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(970-972)cGc>cAc		phosphoribosyl pyrophosphate synthetase-associated protein 1							73.0	77.0	76.0					17																	74308979		2203	4300	6503	SO:0001583	missense	5635	2	121412	31				g.chr17:74308979C>T	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.971G>A	chr17.hg19:g.74308979C>T	ENSP00000414624:p.Arg324His	0					PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H	p.R324H	NM_002766.2	NP_002757.2	1	2	3	2.013100	Q14558	KPRA_HUMAN		9	1416	-			B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	1	1	hg19	c.971G>A	CCDS11743.2	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908919	0.92107	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73681	-0.77;-0.77;-0.77	5.83	3.8	0.43715	5.83	3.8	0.43715	.	0.048040	0.85682	D	0.000000	D	0.82706	0.5095	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.63113	0.911;0.84	T	0.83303	-0.0027	10	0.87932	D	0	.	10.6537	0.45663	0.1332:0.7988:0.0:0.068	.	295;324	Q14558;Q14558-2	KPRA_HUMAN;.	H	324;221;221	ENSP00000414624:R324H;ENSP00000314973:R221H;ENSP00000392838:R221H	ENSP00000314973:R221H	R	-	2	0	0	PRPSAP1	71820574	71820574	1.000000	0.71417	0.977000	0.42913	0.878000	0.50629	4.819000	0.62664	0.771000	0.33359	0.655000	0.94253	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_002766			73	71		374	370	1		1	1		0	0	92	0		1	9.999998e-01	0	32	0	82	0	73	374
PRPSAP1	5635	broad.mit.edu	37	17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	200					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)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547																																						ENST00000446526.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(685-687)Ggg>Tgg		phosphoribosyl pyrophosphate synthetase-associated protein 1							120.0	84.0	96.0					17																	74324894		2203	4300	6503	SO:0001583	missense	5635	0	0					g.chr17:74324894C>A	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.685G>T	chr17.hg19:g.74324894C>A	ENSP00000414624:p.Gly229Trp	0					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	p.G229W	NM_002766.2	NP_002757.2	1	2	3	2.013100	Q14558	KPRA_HUMAN		7	1130	-			B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	1	1	hg19	c.685G>T	CCDS11743.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.358148	0.95854	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	200;229	Q14558;Q14558-2	KPRA_HUMAN;.	W	229;126;126;126	ENSP00000414624:G229W;ENSP00000314973:G126W;ENSP00000392838:G126W;ENSP00000387494:G126W	ENSP00000314973:G126W	G	-	1	0	0	PRPSAP1	71836489	71836489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.154296	1	0.170000	NM_002766			39	38		169	168	1		1	1		0	0	53	0		1	1	0	43	0	120	0	39	169
SPHK1	8877	broad.mit.edu	37	17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	246					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GGAGCCAGTGCCCTCTCACTG	0.627																																					GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996450	0.990000	1.000000																										0				11						c.(736-738)Ccc>Tcc		sphingosine kinase 1	Fingolimod(DB08868)						57.0	43.0	47.0					17																	74383248		2203	4300	6503	SO:0001583	missense	8877	0	0					g.chr17:74383248C>T	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.736C>T	chr17.hg19:g.74383248C>T	ENSP00000440970:p.Pro246Ser	0					SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S	p.P246S			1	2	3	2.013100	Q9NYA1	SPHK1_HUMAN		8	1545	+			Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	1	1	hg19	c.736C>T	CCDS45785.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601439	0.87055	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.28255	1.7;1.62;1.7	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.054040	0.85682	D	0.000000	T	0.45816	0.1361	L	0.43646	1.37	0.58432	D	0.999999	P;P;D	0.71674	0.537;0.942;0.998	B;P;P	0.61003	0.237;0.562;0.882	T	0.30238	-0.9985	10	0.41790	T	0.15	-10.889	18.4809	0.90811	0.0:1.0:0.0:0.0	.	332;260;246	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	S	246;332;246;245	ENSP00000440970:P246S;ENSP00000313681:P332S;ENSP00000376285:P246S	ENSP00000313681:P332S	P	+	1	0	0	SPHK1	71894843	71894843	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.543000	0.60684	2.346000	0.79739	0.563000	0.77884	CCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_182965, NM_021972			17	15		114	114	1		1	1		0	0	33	0		9.999732e-01	9.999923e-01	0	17	0	131	0	17	114
UBE2O	63893	broad.mit.edu	37	17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	822					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAGGCTCTCCAGGATCTTG	0.607																																						ENST00000319380.7	1.000000	0.290000	4.900000e-01	3.400000e-01	0.400000	0.457451	0.400000	0.400000																										0				36						c.(2464-2466)Gag>Aag		ubiquitin-conjugating enzyme E2O							117.0	124.0	121.0					17																	74392554		2203	4300	6503	SO:0001583	missense	63893	0	0					g.chr17:74392554C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2464G>A	chr17.hg19:g.74392554C>T	ENSP00000323687:p.Glu822Lys	0					UBE2O_ENST00000587581.1_5'Flank	p.E822K	NM_022066.3	NP_071349.3	1	2	3	2.013100	Q9C0C9	UBE2O_HUMAN		14	2528	-			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	1	1	hg19	c.2464G>A	CCDS32742.1	0	.	.	.	.	.	.	.	.	.	.	C	30	5.055298	0.93793	.	.	ENSG00000175931	ENST00000319380	T	0.81247	-1.47	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.27053	0.805	0.58432	D	0.999997	D	0.63880	0.993	D	0.68192	0.956	T	0.82697	-0.0329	10	0.34782	T	0.22	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	822	Q9C0C9	UBE2O_HUMAN	K	822	ENSP00000323687:E822K	ENSP00000323687:E822K	E	-	1	0	0	UBE2O	71904149	71904149	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.790000	0.69038	2.206000	0.71126	0.462000	0.41574	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	0	0	1		2	2	2	0		0	0	257		257	256	1	2.060000	-2.814428	1	0.170000	NM_022066			46	47		1327	1304	0		1	1		0	0	257	0		1	4.435445e-01	0	2	0	42	0	46	1327
ST6GALNAC2	10610	broad.mit.edu	37	17	74566667	74566667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74566667C>A	ENST00000225276.5	-	6	1072	c.753G>T	c.(751-753)gaG>gaT	p.E251D	ST6GALNAC2_ENST00000586520.1_5'Flank|RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	251					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TATCTAGGCCCTCAGGGACAG	0.577																																						ENST00000225276.5	1.000000	0.470000	1	7.100000e-01	0.990000	0.895489	0.990000	1.000000																										0				11						c.(751-753)gaG>gaT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							66.0	56.0	60.0					17																	74566667		2203	4300	6503	SO:0001583	missense	10610	0	0					g.chr17:74566667C>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.753G>T	chr17.hg19:g.74566667C>A	ENSP00000225276:p.Glu251Asp	0					RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'Flank	p.E251D	NM_006456.2	NP_006447.2	1	2	3	2.013100	Q9UJ37	SIA7B_HUMAN		6	1072	-			Q12971	Missense_Mutation	SNP	ENST00000225276.5	0	1	hg19	c.753G>T	CCDS11747.1	1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236109	0.39498	.	.	ENSG00000070731	ENST00000225276	T	0.32753	1.44	5.33	-4.12	0.03916	5.33	-4.12	0.03916	.	0.608321	0.17340	N	0.177778	T	0.21550	0.0519	L	0.49455	1.56	0.19575	N	0.999968	B	0.23990	0.095	B	0.30105	0.111	T	0.21793	-1.0235	10	0.31617	T	0.26	-21.5136	5.619	0.17448	0.2208:0.2779:0.0:0.5014	.	251	Q9UJ37	SIA7B_HUMAN	D	251	ENSP00000225276:E251D	ENSP00000225276:E251D	E	-	3	2	2	ST6GALNAC2	72078262	72078262	0.002000	0.14202	0.000000	0.03702	0.811000	0.45836	-0.624000	0.05540	-0.528000	0.06366	-0.339000	0.08088	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	0	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-12.078910	1	0.170000	NM_006456			7	7		77	73	0		1	1		0	0	26	0		9.786983e-01	4.907886e-01	0	3	0	15	0	7	77
TNFSF12	8742	broad.mit.edu	37	17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293825.6	+	6	717	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF13_ENST00000349228.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E152K|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000483039.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	152					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582																																						ENST00000293825.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999688	0.990000	1.000000																										0				11						c.(454-456)Gag>Aag		tumor necrosis factor (ligand) superfamily, member 12							52.0	48.0	50.0					17																	7460175		2203	4300	6503	SO:0001583	missense	8742	0	0					g.chr17:7460175G>A	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.454G>A	chr17.hg19:g.7460175G>A	ENSP00000293825:p.Glu152Lys	0					TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	p.E152K	NM_003809.2	NP_003800.1	1	2	3	2.017774	O43508	TNF12_HUMAN		6	717	+		Prostate(122;0.157)	Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	ENST00000293825.6	1	0	hg19	c.454G>A	CCDS11109.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136305	0.77662	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94687	-3.49;-3.49;-3.49	4.71	2.69	0.31865	4.71	2.69	0.31865	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.688639	0.12808	N	0.437389	D	0.88089	0.6343	N	0.20685	0.6	0.28031	N	0.934134	B;B	0.21071	0.001;0.051	B;B	0.19946	0.003;0.027	T	0.79916	-0.1601	10	0.46703	T	0.11	-0.4336	7.5403	0.27733	0.0933:0.1773:0.7294:0.0	.	152;152	Q8IZK7;O43508	.;TNF12_HUMAN	K	152	ENSP00000293825:E152K;ENSP00000451451:E152K;ENSP00000293826:E152K	ENSP00000293825:E152K	E	+	1	0	0	TNFSF12-TNFSF13;TNFSF12	7400899	7400899	0.997000	0.39634	0.944000	0.38274	0.676000	0.39594	1.110000	0.31147	0.529000	0.28599	0.561000	0.74099	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_003809			23	23		133	131	1		1	1		0	0	28	0		9.999996e-01	1	0	19	0	222	0	23	133
ST6GALNAC2	10610	broad.mit.edu	37	17	74574856	74574856	+	Silent	SNP	C	C	T	rs372232557		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	56					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498																																						ENST00000225276.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(166-168)tcG>tcA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2		C		0,4406		0,0,2203	168.0	141.0	150.0		168	-3.3	0.0	17		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC2	NM_006456.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		56/375	74574856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10610	2	121412	38				g.chr17:74574856C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.168G>A	chr17.hg19:g.74574856C>T		0					ST6GALNAC2_ENST00000586520.1_5'UTR	p.S56S	NM_006456.2	NP_006447.2	1	2	3	2.013100	Q9UJ37	SIA7B_HUMAN		2	487	-			Q12971	Silent	SNP	ENST00000225276.5	1	1	hg19	c.168G>A	CCDS11747.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_006456			50	50		250	247	1		1	1		0	0	54	0		1	9.330991e-01	0	7	0	18	0	50	250
TNFSF13	8741	broad.mit.edu	37	17	7463164	7463164	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TNFSF13_ENST00000349228.4_Intron|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|TNFSF13_ENST00000396542.1_Intron|SENP3_ENST00000321337.7_5'Flank|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF13_ENST00000483039.1_5'UTR	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	113					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TCTCCTCAGAGCAGCACTCTG	0.562											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338784.4	1.000000	0.200000	5.200000e-01	2.700000e-01	0.370000	0.435377	0.370000	0.350000																										0				5						c.(337-339)aaG>aaT		tumor necrosis factor (ligand) superfamily, member 13							128.0	134.0	132.0					17																	7463164		2203	4300	6503	SO:0001630	splice_region_variant	8741	0	0					g.chr17:7463164G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.338-1G>T	chr17.hg19:g.7463164G>T		0		OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|TNFSF13_ENST00000349228.4_Intron|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396542.1_Intron	p.K113N	NM_003808.3	NP_003799.1	1	2	3	2.017774	O75888	TNF13_HUMAN		3	782	+		Prostate(122;0.157)	A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Splice_Site	SNP	ENST00000338784.4	0	1	hg19	c.339G>T	CCDS11111.1	0	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619682	0.28801	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000436057;ENST00000338784;ENST00000396545	D;D;T;D;D	0.97620	-4.46;-4.46;1.42;-3.86;-3.86	4.17	3.2	0.36748	4.17	3.2	0.36748	.	0.967335	0.08562	N	0.927345	D	0.96562	0.8878	L	0.60455	1.87	0.80722	D	1	P;P;D	0.57257	0.501;0.634;0.979	B;B;P	0.54759	0.261;0.167;0.76	D	0.91970	0.5586	10	0.18276	T	0.48	.	8.0311	0.30465	0.1132:0.0:0.8868:0.0	.	113;113;193	O75888;O75888-3;Q8IZK7	TNF13_HUMAN;.;.	N	193;193;96;113;113	ENSP00000451451:K193N;ENSP00000293826:K193N;ENSP00000410094:K96N;ENSP00000343505:K113N;ENSP00000379794:K113N	ENSP00000293826:K193N	K	+	3	2	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7403888	7403888	0.963000	0.33076	0.981000	0.43875	0.104000	0.19210	1.446000	0.35090	1.102000	0.41551	0.462000	0.41574	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.653328	1	0.170000	NM_003808	Missense_Mutation		14	14		462	452	0		1	1		0	0	98	0		9.997225e-01	9.980109e-01	0	5	0	338	0	14	462
TNFSF13	8741	broad.mit.edu	37	17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000338784.4	+	4	890	c.447G>T	c.(445-447)caG>caT	p.Q149H	TNFSF13_ENST00000349228.4_Missense_Mutation_p.Q133H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|SENP3_ENST00000321337.7_5'Flank|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	149					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GAGGCCTACAGGCCCAAGGAT	0.552											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338784.4	1.000000	0.240000	5.300000e-01	3.100000e-01	0.390000	0.457363	0.390000	0.380000																										0				5						c.(445-447)caG>caT		tumor necrosis factor (ligand) superfamily, member 13							119.0	114.0	116.0					17																	7463427		2203	4300	6503	SO:0001583	missense	8741	0	0					g.chr17:7463427G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.447G>T	chr17.hg19:g.7463427G>T	ENSP00000343505:p.Gln149His	0		OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000349228.4_Missense_Mutation_p.Q133H|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H	p.Q149H	NM_003808.3	NP_003799.1	1	2	3	2.017774	O75888	TNF13_HUMAN		4	890	+		Prostate(122;0.157)	A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	0	1	hg19	c.447G>T	CCDS11111.1	0	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761740	0.31228	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.94758	-3.51;-3.51;-3.51;1.42;1.4;-3.51;-3.51;-3.51;-3.51	5.15	2.77	0.32553	5.15	2.77	0.32553	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.313785	0.36167	N	0.002755	D	0.93096	0.7802	L	0.39898	1.24	0.31543	N	0.659642	P;P;P;P;P;P	0.51147	0.808;0.808;0.606;0.808;0.883;0.942	P;P;P;P;P;P	0.54312	0.567;0.567;0.526;0.748;0.632;0.692	D	0.91391	0.5135	10	0.40728	T	0.16	-9.5232	10.0629	0.42286	0.1955:0.0:0.8045:0.0	.	121;122;133;149;149;229	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	H	229;229;104;116;132;133;149;121;149	ENSP00000451451:Q229H;ENSP00000293826:Q229H;ENSP00000379792:Q104H;ENSP00000390771:Q116H;ENSP00000410094:Q132H;ENSP00000314455:Q133H;ENSP00000343505:Q149H;ENSP00000369908:Q121H;ENSP00000379794:Q149H	ENSP00000293826:Q229H	Q	+	3	2	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404151	7404151	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.762000	0.38451	1.163000	0.42636	-0.291000	0.09656	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.216485	1	0.170000	NM_003808			20	19		607	598	0		1	1		0	0	123	0		9.999944e-01	9.997575e-01	0	8	0	396	0	20	607
SENP3	26168	broad.mit.edu	37	17	7468084	7468084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7468084G>T	ENST00000429205.2	+	3	907	c.858G>T	c.(856-858)caG>caT	p.Q286H	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.Q286H|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	286						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCTTTTTCAGGGCTCAGATT	0.617																																						ENST00000429205.2	1.000000	0.190000	6.200000e-01	2.800000e-01	0.410000	0.473315	0.410000	0.380000																										0				2						c.(856-858)caG>caT		SUMO1/sentrin/SMT3 specific peptidase 3							42.0	47.0	46.0					17																	7468084		1971	4165	6136	SO:0001583	missense	26168	0	0					g.chr17:7468084G>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.858G>T	chr17.hg19:g.7468084G>T	ENSP00000403712:p.Gln286His	0					SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.Q286H|SENP3-EIF4A1_ENST00000579777.1_RNA	p.Q286H			1	2	3	2.017774	Q9H4L4	SENP3_HUMAN		3	907	+		Prostate(122;0.157)	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	0	1	hg19	c.858G>T		0	.	.	.	.	.	.	.	.	.	.	G	13.72	2.319953	0.41096	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.36520	1.25;1.25	5.98	2.42	0.29668	5.98	2.42	0.29668	.	0.117651	0.38778	N	0.001579	T	0.19287	0.0463	N	0.14661	0.345	0.27963	N	0.936695	B	0.27732	0.187	B	0.30855	0.121	T	0.11717	-1.0576	10	0.33940	T	0.23	-4.314	6.2244	0.20700	0.1757:0.0:0.6714:0.1528	.	286	Q9H4L4	SENP3_HUMAN	H	286	ENSP00000314029:Q286H;ENSP00000403712:Q286H	ENSP00000314029:Q286H	Q	+	3	2	2	SENP3	7408808	7408808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.579000	0.23788	0.840000	0.34995	0.591000	0.81541	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.104414	1	0.170000	NM_015670			9	9		273	271	0		1	1		0	0	46	0		9.942382e-01	9.779449e-01	0	13	0	190	0	9	273
ST6GALNAC1	55808	broad.mit.edu	37	17	74621580	74621580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	545					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGCTCATGGCCCTCAGTGA	0.483																																						ENST00000156626.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1633-1635)ggC>ggT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							65.0	62.0	63.0					17																	74621580		2203	4300	6503	SO:0001819	synonymous_variant	55808	0	0					g.chr17:74621580G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1635C>T	chr17.hg19:g.74621580G>A		0					ST6GALNAC1_ENST00000590878.1_5'Flank	p.G545G	NM_018414.3	NP_060884.1	1	2	3	2.013100	Q9NSC7	SIA7A_HUMAN		9	1834	-			Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	1	1	hg19	c.1635C>T	CCDS11748.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.190017	1	0.170000	NM_018414			45	45		205	199	1		1	1		0	0	61	0		1	1	0	79	0	66	0	45	205
MFSD11	79157	broad.mit.edu	37	17	74771152	74771152	+	Silent	SNP	G	G	T	rs567649684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000586622.1_Silent_p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	316						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0					ENST00000588460.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(946-948)ctG>ctT		major facilitator superfamily domain containing 11							182.0	166.0	172.0					17																	74771152		2203	4300	6503	SO:0001819	synonymous_variant	79157	1	121412	32				g.chr17:74771152G>T	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.948G>T	chr17.hg19:g.74771152G>T		0					MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR	p.L316L	NM_001242534.1	NP_001229463.1	1	2	3	2.013100	O43934	MFS11_HUMAN		11	2990	+			O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	1	1	hg19	c.948G>T	CCDS11750.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	1	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-3.365101	1	0.170000	NM_024311			173	170		673	662	1		1	1		0	0	159	0		1	9.999780e-01	0	12	0	49	0	173	673
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617																																						ENST00000250113.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				26						c.(1498-1500)tCg>tTg		fragile X mental retardation, autosomal homolog 2							32.0	35.0	34.0					17																	7496331		1834	4076	5910	SO:0001583	missense	9513	1	120600	33				g.chr17:7496331G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1499C>T	chr17.hg19:g.7496331G>A	ENSP00000250113:p.Ser500Leu	0					SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank	p.S500L	NM_004860.3	NP_004851.2	1	2	3	2.017774	P51116	FXR2_HUMAN		13	1833	-			B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	1	1	hg19	c.1499C>T	CCDS45604.1	1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	0	FXR2	7437056	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.320967	1	0.170000				51	50		299	295	1		1	1		0	0	58	0		1	9.999505e-01	0	21	0	67	0	51	299
FXR2	9513	broad.mit.edu	37	17	7497589	7497589	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	329						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478																																						ENST00000250113.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(985-987)gaA>gaG		fragile X mental retardation, autosomal homolog 2							121.0	113.0	115.0					17																	7497589		1904	4114	6018	SO:0001819	synonymous_variant	9513	0	0					g.chr17:7497589T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.987A>G	chr17.hg19:g.7497589T>C		0					FXR2_ENST00000573057.1_5'Flank	p.E329E	NM_004860.3	NP_004851.2	1	2	3	2.017774	P51116	FXR2_HUMAN		10	1321	-			B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	1	1	hg19	c.987A>G	CCDS45604.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1	0	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				44	42		162	161	0		1	1		0	0	36	0		1	1	0	34	0	155	0	44	162
SAT2	112483	broad.mit.edu	37	17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000380450.4_5'Flank|SHBG_ENST00000575903.1_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000416273.3_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	20	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677																																						ENST00000269298.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	3						c.(58-60)Ctg>Atg		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						56.0	50.0	52.0					17																	7530896		2203	4300	6503	SO:0001583	missense	112483	0	0					g.chr17:7530896G>T	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.58C>A	chr17.hg19:g.7530896G>T	ENSP00000269298:p.Leu20Met	0					SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000380450.4_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron	p.L20M	NM_133491.3	NP_597998.1	1	2	3	2.017774	Q96F10	SAT2_HUMAN		1	277	-				Missense_Mutation	SNP	ENST00000269298.5	1	1	hg19	c.58C>A	CCDS11116.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915223|0.915223	0.17907|0.17907	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|T	.|0.57436	.|0.4	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	.|GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.585199|.	0.13069|.	N|.	0.416296|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.04454|0.04454	-1.0950|-1.0950	7|9	0.16896|0.24483	T|T	0.51|0.36	-44.0846|-44.0846	6.3391|6.3391	0.21312|0.21312	0.0939:0.0:0.3584:0.5477|0.0939:0.0:0.3584:0.5477	.|.	.|20	.|Q96F10	.|SAT2_HUMAN	D|M	93|20	.|ENSP00000269298:L20M	ENSP00000369833:A93D|ENSP00000269298:L20M	A|L	-|-	2|1	0|2	0|2	SAT2|SAT2	7471621|7471621	7471621|7471621	0.884000|0.884000	0.30299|0.30299	0.998000|0.998000	0.56505|0.56505	0.811000|0.811000	0.45836|0.45836	-0.159000|-0.159000	0.10056|0.10056	0.200000|0.200000	0.20447|0.20447	-0.126000|-0.126000	0.14955|0.14955	GCT|CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_133491			51	51		249	242	0		1	1		0	0	55	0		1	1	0	97	0	254	0	51	249
MGAT5B	146664	broad.mit.edu	37	17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTGCGGGCCTGGCTGGCC	0.701																																						ENST00000569840.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				29						c.(2071-2073)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							21.0	22.0	22.0					17																	74944060		2201	4298	6499	SO:0001583	missense	146664	0	0					g.chr17:74944060C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2072C>T	chr17.hg19:g.74944060C>T	ENSP00000456037:p.Ala691Val	0					MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|RP11-87G24.3_ENST00000564292.1_RNA	p.A691V	NM_001199172.1	NP_001186101.1	1	2	3	2.013100	Q3V5L5	MGT5B_HUMAN		17	2646	+			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	1	1	hg19	c.2072C>T	CCDS59299.1	1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123698	0.06795	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.38560	1.14;1.13	4.66	3.66	0.41972	4.66	3.66	0.41972	.	0.238298	0.34411	N	0.003988	T	0.10508	0.0257	N	0.01048	-1.04	0.33707	D	0.615329	B;B;B	0.24823	0.018;0.01;0.112	B;B;B	0.22601	0.011;0.007;0.04	T	0.33954	-0.9848	10	0.02654	T	1	-28.8763	4.132	0.10154	0.0:0.4802:0.3008:0.219	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	V	689;700	ENSP00000301618:A689V;ENSP00000391227:A700V	ENSP00000301618:A689V	A	+	2	0	0	MGAT5B	72455655	72455655	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.601000	0.36773	2.129000	0.65627	0.557000	0.71058	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_144677			26	26		128	127	0		1	0		0	0	15	0		1	0	0	0	0	1	0	26	128
SEPT9	10801	broad.mit.edu	37	17	75478280	75478280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	ENST00000427177.1	+	4	902	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000329047.8_Missense_Mutation_p.A241V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	259					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCCAGAGATGCCGGGCTCAAG	0.652																																						ENST00000427177.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999302	0.990000	1.000000																										0				16						c.(775-777)gCc>gTc		septin 9							21.0	27.0	25.0					17																	75478280		2020	4182	6202	SO:0001583	missense	10801	0	0					g.chr17:75478280C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.776C>T	chr17.hg19:g.75478280C>T	ENSP00000391249:p.Ala259Val	0					SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.A241V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V	p.A259V	NM_001113491.1	NP_001106963.1	1	2	3	2.013100	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)	4	902	+			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	0	1	hg19	c.776C>T	CCDS45790.1	1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281855	0.23392	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47528	1.25;0.87;1.26;1.26;0.87;0.84	5.08	2.48	0.30137	5.08	2.48	0.30137	.	1.700500	0.03765	U	0.258872	T	0.42966	0.1226	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B	0.23806	0.0;0.001;0.012;0.091;0.004;0.001;0.001	B;B;B;B;B;B;B	0.17433	0.001;0.002;0.015;0.018;0.005;0.005;0.002	T	0.20706	-1.0267	10	0.35671	T	0.21	.	6.1871	0.20503	0.0:0.6649:0.1468:0.1882	.	35;240;147;220;252;241;259	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	259;8;95;241;252;95;35;8;147	ENSP00000391249:A259V;ENSP00000400181:A95V;ENSP00000329161:A241V;ENSP00000405877:A252V;ENSP00000403194:A95V;ENSP00000415624:A147V	ENSP00000329161:A241V	A	+	2	0	0	SEPT9	72989875	72989875	0.028000	0.19301	0.001000	0.08648	0.248000	0.25809	0.947000	0.29082	0.407000	0.25591	0.627000	0.83407	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	0	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_006640			15	15		75	72	0		1	1		0	0	24	0		9.998969e-01	1	0	135	0	389	0	15	75
TNRC6C	57690	broad.mit.edu	37	17	76060855	76060855	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000588061.1	+	6	3175	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S	TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000541771.1_Silent_p.S816S|TNRC6C_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000588847.1_Silent_p.S813S|RNU6-625P_ENST00000459412.1_RNA			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	816	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)			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)			CTGAAAACTCTTGGGGAGAAC	0.517																																						ENST00000588061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2446-2448)tcT>tcC		trinucleotide repeat containing 6C							69.0	70.0	70.0					17																	76060855		1875	4127	6002	SO:0001819	synonymous_variant	57690	0	0					g.chr17:76060855T>C	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.2448T>C	chr17.hg19:g.76060855T>C		0					TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000541771.1_Silent_p.S816S	p.S816S			1	2	3	2.013100	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)	6	3175	+			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	1	1	hg19	c.2448T>C	CCDS45798.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_018996			61	62		259	255	1		1	0		0	0	56	0		1	8.347174e-01	0	1	0	15	0	61	259
TNRC6C	57690	broad.mit.edu	37	17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000588061.1	+	15	4497	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1257					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)			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)			GAGCAGCAGTCTTCACCCAAC	0.582																																						ENST00000588061.1	1.000000	0.860000	1	9.800000e-01	0.990000	0.988247	0.990000	1.000000																										0				40						c.(3769-3771)tCt>tAt		trinucleotide repeat containing 6C							120.0	131.0	127.0					17																	76083142		2140	4248	6388	SO:0001583	missense	57690	0	0					g.chr17:76083142C>A	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.3770C>A	chr17.hg19:g.76083142C>A	ENSP00000468647:p.Ser1257Tyr	0					TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y	p.S1257Y			1	2	3	2.013100	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)	15	4497	+			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	1	1	hg19	c.3770C>A	CCDS45798.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774969	0.90108	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.32;2.31;2.31;2.32	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.177279	0.51477	D	0.000081	T	0.36413	0.0966	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.892;0.941	P;P	0.56434	0.714;0.798	T	0.01776	-1.1276	10	0.45353	T	0.12	-3.2971	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1254;1257	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1257;1254;1254;1257;1257;1254	ENSP00000336783:S1254Y;ENSP00000301624:S1257Y;ENSP00000440310:S1257Y;ENSP00000442421:S1254Y	ENSP00000301624:S1257Y	S	+	2	0	0	TNRC6C	73594737	73594737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.563000	0.86464	0.655000	0.94253	TCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-16.960390	1	0.170000	NM_018996			57	57		548	533	1		1	1		0	0	96	0		1	8.906919e-01	0	2	0	37	0	57	548
TNRC6C	57690	broad.mit.edu	37	17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000588061.1	+	17	4824	c.4097G>A	c.(4096-4098)aGc>aAc	p.S1366N	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1366	Silencing domain; interaction with CNOT1 and PAN3.				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)			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)			GTTCCCCATAGCTGGTCACGT	0.517																																						ENST00000588061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(4096-4098)aGc>aAc		trinucleotide repeat containing 6C							66.0	64.0	65.0					17																	76089140		2002	4187	6189	SO:0001583	missense	57690	0	0					g.chr17:76089140G>A	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.4097G>A	chr17.hg19:g.76089140G>A	ENSP00000468647:p.Ser1366Asn	0					TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N	p.S1366N			1	2	3	2.013100	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)	17	4824	+			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	1	1	hg19	c.4097G>A	CCDS45798.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171830	0.57584	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16597	2.33;2.35;2.35;2.33	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.038306	0.85682	D	0.000000	T	0.20251	0.0487	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.42409	0.779;0.195	B;B	0.41813	0.367;0.043	T	0.00359	-1.1791	10	0.40728	T	0.16	-26.2854	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1363;1366	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	N	1366;1363;1363;1366;1366;1363	ENSP00000336783:S1363N;ENSP00000301624:S1366N;ENSP00000440310:S1366N;ENSP00000442421:S1363N	ENSP00000301624:S1366N	S	+	2	0	0	TNRC6C	73600735	73600735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.831000	0.97527	0.655000	0.94253	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_018996			36	36		147	145	1		1	0		0	0	54	0		1	9.588758e-01	0	1	0	23	0	36	147
TMC6	11322	broad.mit.edu	37	17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000591436.1_5'Flank			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACCTGTACACCAGGGTGATG	0.557																																						ENST00000590602.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1075-1077)Gtg>Atg		transmembrane channel-like 6							80.0	72.0	74.0					17																	76120077		2203	4300	6503	SO:0001583	missense	11322	0	0					g.chr17:76120077C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1075G>A	chr17.hg19:g.76120077C>T	ENSP00000465261:p.Val359Met	0					TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M	p.V359M			1	2	3	2.013100	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)	9	1234	-			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	1	1	hg19	c.1075G>A	CCDS32748.1	1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313848	0.60414	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.65916	-0.18;-0.18;-0.18	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.73345	0.3575	M	0.62088	1.915	0.80722	D	1	D;P;D;D	0.64830	0.994;0.759;0.959;0.985	D;B;P;P	0.64687	0.928;0.414;0.556;0.838	T	0.75505	-0.3294	10	0.56958	D	0.05	-28.0279	12.4474	0.55659	0.0:0.9134:0.0:0.0866	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	M	359	ENSP00000313408:V359M;ENSP00000376260:V359M;ENSP00000306405:V359M	ENSP00000306405:V359M	V	-	1	0	0	TMC6	73631672	73631672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.587000	0.67510	1.945000	0.56424	0.455000	0.32223	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				54	52		210	204	1		1	1		0	0	61	0		1	9.999772e-01	0	15	0	50	0	54	210
TMC6	11322	broad.mit.edu	37	17	76122448	76122448	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000306591.7_Splice_Site			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6						ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCTACTTCCTACAAAGCAA	0.637																																						ENST00000590602.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.e4-1		transmembrane channel-like 6							17.0	21.0	19.0					17																	76122448		2190	4294	6484	SO:0001630	splice_region_variant	11322	0	0					g.chr17:76122448C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.182-1G>A	chr17.hg19:g.76122448C>T		0					TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000392467.3_Splice_Site				1	2	3	2.013100	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)	4	341	-			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Splice_Site	SNP	ENST00000590602.1	0	1	hg19		CCDS32748.1	1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165376	0.21538	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	.	.	.	3.85	3.85	0.44370	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.35357	D	0.787859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0394	0.58891	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TMC6	73634043	73634043	0.348000	0.24861	0.022000	0.16811	0.039000	0.13416	5.236000	0.65354	1.867000	0.54127	0.561000	0.74099	.	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000		Intron		21	21		62	62	0		1			0	0	9	0		9.999992e-01	0	0	0	0	0	0	21	62
TMC8	147138	broad.mit.edu	37	17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	123					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACCTGCTGAGCCTGCTGCT	0.642																																						ENST00000318430.5	1.000000	0.530000	1	7.500000e-01	0.990000	0.907897	0.990000	1.000000																										0				12						c.(367-369)Agc>Ggc		transmembrane channel-like 8							49.0	37.0	41.0					17																	76128508		2200	4300	6500	SO:0001583	missense	147138	0	0					g.chr17:76128508A>G	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.367A>G	chr17.hg19:g.76128508A>G	ENSP00000325561:p.Ser123Gly	0					TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	p.S123G	NM_152468.4	NP_689681.2	1	2	3	2.013100	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)	4	741	+			Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	0	1	hg19	c.367A>G	CCDS32749.1	1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465858	0.26335	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55413	0.52	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.610314	0.17676	N	0.165800	T	0.35128	0.0921	N	0.25245	0.725	0.39951	D	0.974545	B	0.21381	0.055	B	0.16722	0.016	T	0.30880	-0.9963	10	0.54805	T	0.06	-27.8647	6.1247	0.20172	0.8852:0.0:0.1148:0.0	.	123	Q8IU68	TMC8_HUMAN	G	123	ENSP00000325561:S123G	ENSP00000301627:S123G	S	+	1	0	0	TMC8	73640103	73640103	0.134000	0.22483	0.780000	0.31762	0.293000	0.27360	1.004000	0.29822	1.738000	0.51689	0.459000	0.35465	AGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-15.618610	1	0.170000				10	10		110	109	1		1	0		0	0	22	0		9.971616e-01	9.941934e-02	0	0	0	6	0	10	110
AFMID	125061	broad.mit.edu	37	17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A	rs369400202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000586731.1	+	2	62	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTCCCAGCCGATGGGTTGTC	0.567																																						ENST00000586731.1	1.000000	0.230000	8.000000e-01	3.500000e-01	0.520000	0.569093	0.520000	0.470000																										0				19						c.(40-42)cGa>cAa		arylformamidase		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	83.0	93.0		92,92	1.7	1.0	17		93	0,8600		0,0,4300	no	missense,missense	AFMID	NM_001010982.4,NM_001145526.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	31/304,31/309	76187079	1,13005	2203	4300	6503	SO:0001583	missense	125061	1	121412	26				g.chr17:76187079G>A	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.41G>A	chr17.hg19:g.76187079G>A	ENSP00000466241:p.Arg14Gln	0					AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q	p.R14Q			1	2	3	2.013100			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)	2	62	+				Missense_Mutation	SNP	ENST00000586731.1	1	1	hg19	c.41G>A		0	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094635	0.08681	2.27E-4	0.0	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	1.68	0.24146	4.81	1.68	0.24146	.	0.599357	0.14078	N	0.342936	T	0.19685	0.0473	N	0.21194	0.64	0.20563	N	0.999889	B;P;B;B	0.34462	0.029;0.454;0.001;0.006	B;B;B;B	0.23852	0.033;0.049;0.002;0.007	T	0.11665	-1.0578	9	0.18276	T	0.48	-3.4178	11.125	0.48312	0.2104:0.0:0.7896:0.0	.	31;31;31;31	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	Q	31	.	ENSP00000328938:R31Q	R	+	2	0	0	AFMID	73698674	73698674	1.000000	0.71417	0.953000	0.39169	0.005000	0.04900	1.756000	0.38390	-0.116000	0.11893	-1.307000	0.01316	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-3.391547	1	0.170000	XM_058889			7	7		166	161	0		1	0		0	0	35	0		9.791965e-01	6.970498e-01	0	0	0	57	0	7	166
AFMID	125061	broad.mit.edu	37	17	76200768	76200768	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000327898.5	+	5	349	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Silent_p.L114L|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592																																						ENST00000327898.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998307	0.990000	1.000000																										0				19						c.(340-342)Ctg>Ttg		arylformamidase							97.0	69.0	78.0					17																	76200768		2203	4300	6503	SO:0001819	synonymous_variant	125061	0	0					g.chr17:76200768C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.340C>T	chr17.hg19:g.76200768C>T		0					AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Silent_p.L114L|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	p.L114L			1	2	3	2.013100			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)	5	349	+				Silent	SNP	ENST00000327898.5	1	1	hg19	c.340C>T	CCDS45801.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	XM_058889			28	28		202	196	1		1	1		0	0	54	0		1	8.232094e-01	0	8	0	17	0	28	202
SOCS3	9021	broad.mit.edu	37	17	76354664	76354664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76354664G>A	ENST00000330871.2	-	2	928	c.513C>T	c.(511-513)ggC>ggT	p.G171G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	171					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|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 insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGATCTTCTCGCCCCCGGAGT	0.637																																						ENST00000330871.2	1.000000	0.160000	5.500000e-01	2.400000e-01	0.360000	0.422668	0.360000	0.330000																										0				6						c.(511-513)ggC>ggT		suppressor of cytokine signaling 3							29.0	32.0	31.0					17																	76354664		2202	4299	6501	SO:0001819	synonymous_variant	9021	0	0					g.chr17:76354664G>A	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.513C>T	chr17.hg19:g.76354664G>A		0					RP11-806H10.4_ENST00000592569.1_lincRNA	p.G171G	NM_003955.3	NP_003946.3	1	2	3	2.013100	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)	2	928	-			O14509	Silent	SNP	ENST00000330871.2	0	1	hg19	c.513C>T	CCDS11756.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1	0	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-8.638650	1	0.170000				8	8		277	274	0		1	1		0	0	61	0		9.891823e-01	7.537386e-01	0	2	0	92	0	8	277
DNAH17	8632	broad.mit.edu	37	17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000585328.1	-	75	12327	c.12203A>G	c.(12202-12204)aAc>aGc	p.N4068S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4067					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)			CACCTTGGGGTTGGCCTCCAG	0.612																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(12202-12204)aAc>aGc		dynein, axonemal, heavy chain 17							225.0	183.0	198.0					17																	76430117		2203	4300	6503	SO:0001583	missense	8632	0	0					g.chr17:76430117T>C	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.12203A>G	chr17.hg19:g.76430117T>C	ENSP00000465516:p.Asn4068Ser	0					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S	p.N4068S	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	75	12327	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.12203A>G		1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040736	0.55003	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.57	0.56435	5.64	4.57	0.56435	.	0.184935	0.37669	N	0.002000	T	0.10465	0.0256	L	0.45137	1.4	0.39459	D	0.96753	B	0.31790	0.34	B	0.38056	0.264	T	0.14811	-1.0459	10	0.35671	T	0.21	.	11.5876	0.50927	0.0:0.0698:0.0:0.9301	.	4068	E7EUM8	.	S	4068;4067	ENSP00000374490:N4067S	ENSP00000300671:N4068S	N	-	2	0	0	DNAH17	73941712	73941712	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.891000	0.87319	0.990000	0.38787	0.454000	0.30748	AAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_173628			120	117		590	579	1		1			0	0	144	0		1	0	0	0	0	0	0	120	590
DNAH17	8632	broad.mit.edu	37	17	76435168	76435168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76435168G>A	ENST00000389840.5	-	73	11891	c.11767C>T	c.(11767-11769)Cga>Tga	p.R3923*	DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron			Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3923	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)			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)			TGGCCCCCTCGTACCTGCAGA	0.602																																						ENST00000389840.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				116						c.(11767-11769)Cga>Tga		dynein, axonemal, heavy chain 17							69.0	54.0	59.0					17																	76435168		2203	4300	6503	SO:0001587	stop_gained	8632	9	121398	38				g.chr17:76435168G>A	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		ENST00000389840.5:c.11767C>T	chr17.hg19:g.76435168G>A	ENSP00000374490:p.Arg3923*	0					DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron	p.R3923*			1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	73	11891	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000389840.5	0	1	hg19	c.11767C>T		1	.	.	.	.	.	.	.	.	.	.	G	52	19.831898	0.99924	.	.	ENSG00000187775	ENST00000389840	.	.	.	3.69	0.391	0.16282	3.69	0.391	0.16282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6418	0.00812	0.3494:0.1666:0.314:0.1701	.	.	.	.	X	3923	.	ENSP00000374490:R3923X	R	-	1	2	2	DNAH17	73946763	73946763	0.979000	0.34478	0.000000	0.03702	0.290000	0.27261	-0.021000	0.12504	-0.049000	0.13379	0.655000	0.94253	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DNAH17-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_173628			24	23		105	104	1		1			0	0	36	0		9.999998e-01	0	0	0	0	0	0	24	105
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000585328.1	-	64	10319	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3390	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)			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)			TCTGTCAGCAGGCTCAAGGGA	0.587																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(10195-10197)Ctg>Atg		dynein, axonemal, heavy chain 17							91.0	76.0	81.0					17																	76450748		2203	4300	6503	SO:0001583	missense	8632	0	0					g.chr17:76450748G>T	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.10195C>A	chr17.hg19:g.76450748G>T	ENSP00000465516:p.Leu3399Met	0					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M	p.L3399M	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	64	10319	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.10195C>A		1	.	.	.	.	.	.	.	.	.	.	G	4.642	0.119399	0.08881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	5.21	4.23	0.50019	5.21	4.23	0.50019	.	0.000000	0.48767	D	0.000175	T	0.13072	0.0317	N	0.10707	0.03	0.35803	D	0.823276	B	0.23937	0.094	B	0.31390	0.129	T	0.12708	-1.0537	10	0.05721	T	0.95	.	12.8723	0.57972	0.0:0.0:0.7035:0.2965	.	3399	E7EUM8	.	M	3399;3390	ENSP00000374490:L3390M	ENSP00000300671:L3399M	L	-	1	2	2	DNAH17	73962343	73962343	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.531000	0.36018	1.152000	0.42452	0.655000	0.94253	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_173628			56	55		271	264	1		1			0	0	62	0		1	0	0	0	0	0	0	56	271
DNAH17	8632	broad.mit.edu	37	17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000585328.1	-	63	10163	c.10039C>A	c.(10039-10041)Ctg>Atg	p.L3347M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3338					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)			TCCCCACACAGCGTGACCCCC	0.532																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				116						c.(10039-10041)Ctg>Atg		dynein, axonemal, heavy chain 17							89.0	68.0	75.0					17																	76451842		2203	4300	6503	SO:0001583	missense	8632	0	0					g.chr17:76451842G>T	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.10039C>A	chr17.hg19:g.76451842G>T	ENSP00000465516:p.Leu3347Met	0					DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M	p.L3347M	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	63	10163	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.10039C>A		1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923168	0.52653	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.06	3.88	0.44766	5.06	3.88	0.44766	.	0.000000	0.47093	D	0.000245	D	0.88340	0.6410	M	0.85197	2.74	0.30684	N	0.752072	D	0.71674	0.998	D	0.69479	0.964	D	0.85895	0.1431	10	0.59425	D	0.04	.	9.4508	0.38725	0.2271:0.0:0.7729:0.0	.	3347	E7EUM8	.	M	3347;3338	ENSP00000374490:L3338M	ENSP00000300671:L3347M	L	-	1	2	2	DNAH17	73963437	73963437	0.791000	0.28800	0.926000	0.36857	0.642000	0.38348	1.082000	0.30803	2.334000	0.79466	0.655000	0.94253	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_173628			22	22		99	98	1		1	0		0	0	25	0		9.999993e-01	0	0	1	0	0	0	22	99
DNAH17	8632	broad.mit.edu	37	17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000585328.1	-	57	9216	c.9092C>T	c.(9091-9093)aCg>aTg	p.T3031M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3022	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)			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)			AACAAGTTCCGTTCTCTTCTT	0.557																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(9091-9093)aCg>aTg		dynein, axonemal, heavy chain 17							147.0	135.0	139.0					17																	76458993		2203	4300	6503	SO:0001583	missense	8632	4	121408	40				g.chr17:76458993G>A	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.9092C>T	chr17.hg19:g.76458993G>A	ENSP00000465516:p.Thr3031Met	0					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M	p.T3031M	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	57	9216	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.9092C>T		1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043442	0.07452	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	5.04	-3.41	0.04839	5.04	-3.41	0.04839	.	0.538280	0.17352	N	0.177358	T	0.27169	0.0666	L	0.52266	1.64	0.19300	N	0.999972	B	0.16396	0.017	B	0.14578	0.011	T	0.13388	-1.0511	10	0.44086	T	0.13	.	2.5082	0.04650	0.3344:0.252:0.3156:0.0981	.	3031	E7EUM8	.	M	3031;3022	ENSP00000374490:T3022M	ENSP00000300671:T3031M	T	-	2	0	0	DNAH17	73970588	73970588	0.000000	0.05858	0.315000	0.25238	0.055000	0.15305	-1.529000	0.02223	-0.638000	0.05509	-1.281000	0.01382	ACG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_173628			52	52		238	237	1		1			0	0	50	0		1	0	0	0	0	0	0	52	238
DNAH17	8632	broad.mit.edu	37	17	76475586	76475586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000585328.1	-	50	7990	c.7866G>A	c.(7864-7866)caG>caA	p.Q2622Q	DNAH17_ENST00000389840.5_Silent_p.Q2613Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2613	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)			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)			CGGCCACCAGCTGGCTGCTTA	0.602																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(7864-7866)caG>caA		dynein, axonemal, heavy chain 17							55.0	59.0	58.0					17																	76475586		1977	4142	6119	SO:0001819	synonymous_variant	8632	0	0					g.chr17:76475586C>T	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.7866G>A	chr17.hg19:g.76475586C>T		0					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.Q2613Q	p.Q2622Q	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	50	7990	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	1	1	hg19	c.7866G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_173628			59	57		268	260	1		1			0	0	52	0		1	0	0	0	0	0	0	59	268
DNAH17	8632	broad.mit.edu	37	17	76482324	76482324	+	Silent	SNP	G	G	T	rs141022219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000585328.1	-	45	7192	c.7068C>A	c.(7066-7068)ggC>ggA	p.G2356G	DNAH17_ENST00000389840.5_Silent_p.G2347G|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2347					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)			GGAACATGGCGCCACCGAAGG	0.622																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(7066-7068)ggC>ggA		dynein, axonemal, heavy chain 17							35.0	39.0	38.0					17																	76482324		2005	4149	6154	SO:0001819	synonymous_variant	8632	0	0					g.chr17:76482324G>T	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.7068C>A	chr17.hg19:g.76482324G>T		0					RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.G2347G	p.G2356G	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	45	7192	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	1	1	hg19	c.7068C>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_173628			39	39		184	181	1		1			0	0	34	0		1	0	0	0	0	0	0	39	184
DNAH17	8632	broad.mit.edu	37	17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000585328.1	-	36	5706	c.5582C>T	c.(5581-5583)aCc>aTc	p.T1861I	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1852	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)			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)			GTAGACCATGGTGCCCAGGGC	0.622																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				116						c.(5581-5583)aCc>aTc		dynein, axonemal, heavy chain 17							27.0	31.0	30.0					17																	76496430		2003	4199	6202	SO:0001583	missense	8632	0	0					g.chr17:76496430G>A	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.5582C>T	chr17.hg19:g.76496430G>A	ENSP00000465516:p.Thr1861Ile	0					RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I	p.T1861I	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	36	5706	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.5582C>T		1	.	.	.	.	.	.	.	.	.	.	G	4.354	0.065090	0.08388	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.07444	3.19	4.07	2.04	0.26737	4.07	2.04	0.26737	.	.	.	.	.	T	0.01287	0.0042	N	0.00113	-2.09	0.31028	N	0.717726	.	.	.	.	.	.	T	0.42310	-0.9459	7	0.02654	T	1	.	4.5718	0.12214	0.4621:0.0:0.5378:0.0	.	.	.	.	I	1861;1852	ENSP00000374490:T1852I	ENSP00000300671:T1861I	T	-	2	0	0	DNAH17	74008025	74008025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.270000	0.58896	1.055000	0.40461	0.448000	0.29417	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_173628			23	22		74	72	1		1			0	0	23	0		9.999997e-01	0	0	0	0	0	0	23	74
DNAH17	8632	broad.mit.edu	37	17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000585328.1	-	33	5263	c.5139G>T	c.(5137-5139)gaG>gaT	p.E1713D	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D|DNAH17-AS1_ENST00000598378.1_3'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1705	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)			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)			CATAGCCTTCCTCCAGCCTGG	0.478																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				116						c.(5137-5139)gaG>gaT		dynein, axonemal, heavy chain 17							61.0	65.0	64.0					17																	76498715		2033	4223	6256	SO:0001583	missense	8632	0	0					g.chr17:76498715C>A	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.5139G>T	chr17.hg19:g.76498715C>A	ENSP00000465516:p.Glu1713Asp	0					DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D	p.E1713D	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	33	5263	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.5139G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897077	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.27557	1.66	5.5	3.15	0.36227	5.5	3.15	0.36227	.	.	.	.	.	T	0.48187	0.1486	M	0.83223	2.63	0.33228	D	0.55551	.	.	.	.	.	.	T	0.62765	-0.6785	7	0.54805	T	0.06	.	9.4777	0.38882	0.0:0.7015:0.0:0.2985	.	.	.	.	D	1713;1705	ENSP00000374490:E1705D	ENSP00000300671:E1713D	E	-	3	2	2	DNAH17	74010310	74010310	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.856000	0.39389	1.299000	0.44798	0.448000	0.29417	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_173628			30	29		127	124	1		1			0	0	19	0		1	0	0	0	0	0	0	30	127
DNAH2	146754	broad.mit.edu	37	17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F|RPL29P2_ENST00000498671.1_RNA			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	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)			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)				CCTTCTGATTCTCTTTGCGGA	0.567																																						ENST00000572933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(1918-1920)Ctc>Ttc		dynein, axonemal, heavy chain 2							195.0	191.0	192.0					17																	7660422		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7660422C>T	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.1918C>T	chr17.hg19:g.7660422C>T	ENSP00000458355:p.Leu640Phe	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F|RPL29P2_ENST00000498671.1_RNA	p.L640F			1	2	3	2.017774	Q9P225	DYH2_HUMAN		13	3378	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.1918C>T	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716165	0.48622	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65364	-0.15	4.96	4.96	0.65561	4.96	4.96	0.65561	Dynein heavy chain, domain-1 (1);	0.163839	0.41097	D	0.000952	T	0.77103	0.4081	M	0.85710	2.77	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.79327	-0.1849	10	0.72032	D	0.01	.	6.3087	0.21153	0.1845:0.7244:0.0:0.0911	.	640	Q9P225	DYH2_HUMAN	F	640	ENSP00000373825:L640F	ENSP00000353818:L640F	L	+	1	0	0	DNAH2	7601147	7601147	0.879000	0.30193	1.000000	0.80357	0.519000	0.34347	1.072000	0.30678	2.578000	0.87016	0.491000	0.48974	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1		2	2	2	0		0	0	303		303	300	1	2.060000	-20.000000	1	0.170000	NM_020877			316	313		1302	1263	1		1			0	0	303	0		1	0	0	0	0	0	0	316	1302
DNAH2	146754	broad.mit.edu	37	17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1032	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)			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)				CAATGAATGGCAGAACAAGTT	0.572																																						ENST00000572933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(3094-3096)Cag>Tag		dynein, axonemal, heavy chain 2							97.0	86.0	90.0					17																	7667264		2203	4300	6503	SO:0001587	stop_gained	146754	0	0					g.chr17:7667264C>T	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.3094C>T	chr17.hg19:g.7667264C>T	ENSP00000458355:p.Gln1032*	0					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*	p.Q1032*			1	2	3	2.017774	Q9P225	DYH2_HUMAN		19	4554	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	0	1	hg19	c.3094C>T	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.586910	0.99213	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8308	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000353818:Q1032X	Q	+	1	0	0	DNAH2	7607989	7607989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.871000	0.75531	2.251000	0.74343	0.555000	0.69702	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_020877			70	70		273	271	1		1			0	0	78	0		1	0	0	0	0	0	0	70	273
DNAH17	8632	broad.mit.edu	37	17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000585328.1	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	376	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)			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)			ACATTTACAGCCAGGGAGATG	0.542																																						ENST00000585328.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999825	0.990000	1.000000																										0				116						c.(1126-1128)Gct>Tct		dynein, axonemal, heavy chain 17							86.0	63.0	71.0					17																	76565528		2203	4300	6503	SO:0001583	missense	8632	3	121402	31				g.chr17:76565528C>A	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.1126G>T	chr17.hg19:g.76565528C>A	ENSP00000465516:p.Ala376Ser	0					DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	p.A376S	NM_173628.3	NP_775899.3	1	2	3	2.013100	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	8	1250	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.1126G>T		1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696638	0.00725	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.65	2.34	0.29019	4.65	2.34	0.29019	.	0.538685	0.15187	N	0.275778	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19128	-1.0315	10	0.12430	T	0.62	.	11.712	0.51630	0.4394:0.5606:0.0:0.0	.	78	Q9UFH2-4	.	S	376	ENSP00000374490:A376S	ENSP00000300671:A376S	A	-	1	0	0	DNAH17	74077123	74077123	0.391000	0.25221	0.521000	0.27850	0.023000	0.10783	0.593000	0.23999	0.163000	0.19507	-0.410000	0.06199	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_173628			18	18		84	83	1		1			0	0	16	0		9.999894e-01	0	0	0	0	0	0	18	84
USP36	57602	broad.mit.edu	37	17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.P820L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	820					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCCTCTGCGGCTCTCCCAC	0.622																																						ENST00000542802.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999282	0.990000	1.000000																										0				34						c.(2458-2460)cCg>cTg		ubiquitin specific peptidase 36							24.0	29.0	28.0					17																	76799818		2165	4269	6434	SO:0001583	missense	57602	0	0					g.chr17:76799818G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2459C>T	chr17.hg19:g.76799818G>A	ENSP00000441214:p.Pro820Leu	0					USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.P820L	p.P820L			1	2	3	2.013100	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)	16	2902	-			Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	0	1	hg19	c.2459C>T	CCDS32755.1	1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685435	0.14973	.	.	ENSG00000055483	ENST00000312010;ENST00000542802	T;T	0.06608	3.28;3.28	5.19	-2.67	0.06059	5.19	-2.67	0.06059	.	2.273500	0.01508	N	0.017791	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.27785	T	0.31	.	8.3188	0.32117	0.1328:0.0:0.6159:0.2513	.	820;820	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	820	ENSP00000310590:P820L;ENSP00000441214:P820L	ENSP00000310590:P820L	P	-	2	0	0	USP36	74311413	74311413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.705000	0.01896	-0.311000	0.08754	-0.254000	0.11334	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	0	0	1		18	8	2	1		1	1	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_025090			36	36		259	252	1		1	1		1	0	53	0		9.957551e-01	9.233349e-01	0	10	0	93	0	36	259
DNAH2	146754	broad.mit.edu	37	17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2111	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)			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)				GGAGACCCTAACTTCAACATT	0.597																																						ENST00000572933.1	1.000000	0.600000	1	7.800000e-01	0.990000	0.920811	0.990000	1.000000																										0				189						c.(6331-6333)aAc>aCc		dynein, axonemal, heavy chain 2							38.0	37.0	37.0					17																	7689644		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7689644A>C	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.6332A>C	chr17.hg19:g.7689644A>C	ENSP00000458355:p.Asn2111Thr	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T	p.N2111T			1	2	3	2.017774	Q9P225	DYH2_HUMAN		40	7792	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.6332A>C	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255034	0.39896	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.43	4.35	0.52113	5.43	4.35	0.52113	ATPase, dynein-related, AAA domain (1);	0.283115	0.39834	N	0.001242	T	0.30355	0.0762	L	0.42632	1.34	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.07616	-1.0763	10	0.14252	T	0.57	.	6.8105	0.23802	0.7675:0.1527:0.0798:0.0	.	2111	Q9P225	DYH2_HUMAN	T	2111	ENSP00000373825:N2111T	ENSP00000353818:N2111T	N	+	2	0	0	DNAH2	7630369	7630369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.029000	0.41098	1.086000	0.41228	0.528000	0.53228	AAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.996690	1	0.170000	NM_020877			16	16		178	175	0		1			0	0	44	0		9.999379e-01	0	0	0	0	0	0	16	178
DNAH2	146754	broad.mit.edu	37	17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2228	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)			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)				TCTACACTGACTACGCTGACC	0.547																																						ENST00000572933.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999782	0.990000	1.000000																										0				189						c.(6682-6684)gaC>gaA		dynein, axonemal, heavy chain 2							77.0	73.0	74.0					17																	7691258		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7691258C>A	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.6684C>A	chr17.hg19:g.7691258C>A	ENSP00000458355:p.Asp2228Glu	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E	p.D2228E			1	2	3	2.017774	Q9P225	DYH2_HUMAN		43	8144	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.6684C>A	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531386	0.64972	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87729	-2.29	5.07	0.635	0.17723	5.07	0.635	0.17723	.	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80266	-0.1454	10	0.10636	T	0.68	.	3.5746	0.07930	0.0:0.3903:0.1908:0.4189	.	2228	Q9P225	DYH2_HUMAN	E	2228	ENSP00000373825:D2228E	ENSP00000353818:D2228E	D	+	3	2	2	DNAH2	7631983	7631983	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	1.168000	0.31859	0.323000	0.23307	0.561000	0.74099	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	0		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_020877			41	41		283	277	1		1			0	0	83	0		1	0	0	0	0	0	0	41	283
USP36	57602	broad.mit.edu	37	17	76803497	76803497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000312010.6_Silent_p.Q543Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	543					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGAAAAGTGCTGTGGAGGAG	0.602																																						ENST00000542802.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(1627-1629)caG>caA		ubiquitin specific peptidase 36							62.0	61.0	61.0					17																	76803497		2203	4300	6503	SO:0001819	synonymous_variant	57602	0	0					g.chr17:76803497C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1629G>A	chr17.hg19:g.76803497C>T		0					USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000312010.6_Silent_p.Q543Q	p.Q543Q			1	2	3	2.013100	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)	14	2072	-			Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	1	1	hg19	c.1629G>A	CCDS32755.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_025090			39	39		194	192	1		1	1		0	0	31	0		1	9.999877e-01	0	27	0	62	0	39	194
LGALS3BP	3959	broad.mit.edu	37	17	76967886	76967886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000262776.3	-	6	1838	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	510					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GATCTGAGCCGCCAGACTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1528-1530)ggC>ggT		lectin, galactoside-binding, soluble, 3 binding protein							52.0	47.0	49.0					17																	76967886		2203	4300	6503	SO:0001819	synonymous_variant	3959	1	121412	35				g.chr17:76967886G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1530C>T	chr17.hg19:g.76967886G>A		0		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.G510G	NM_005567.3	NP_005558.1	1	2	3	2.013100	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)	6	1838	-			Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	1	1	hg19	c.1530C>T	CCDS11759.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005567			43	43		175	172	1		1	1		0	0	51	0		1	1	0	1419	0	4117	0	43	175
DNAH2	146754	broad.mit.edu	37	17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2575	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)			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)				AGAAGCTTCAGGACTTTGAGG	0.562																																						ENST00000572933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(7723-7725)caG>caT		dynein, axonemal, heavy chain 2							121.0	100.0	107.0					17																	7699832		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7699832G>T	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.7725G>T	chr17.hg19:g.7699832G>T	ENSP00000458355:p.Gln2575His	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H	p.Q2575H			1	2	3	2.017774	Q9P225	DYH2_HUMAN		50	9185	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.7725G>T	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832290	0.50845	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.4	4.43	0.53597	5.4	4.43	0.53597	.	0.131736	0.52532	D	0.000076	T	0.42268	0.1195	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.37709	-0.9694	10	0.51188	T	0.08	.	13.2661	0.60135	0.0773:0.0:0.9227:0.0	.	2575	Q9P225	DYH2_HUMAN	H	2575	ENSP00000373825:Q2575H	ENSP00000353818:Q2575H	Q	+	3	2	2	DNAH2	7640557	7640557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.487000	0.60293	1.508000	0.48769	0.609000	0.83330	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.579975	1	0.170000	NM_020877			62	59		238	233	1		1			0	0	66	0		1	0	0	0	0	0	0	62	238
DNAH2	146754	broad.mit.edu	37	17	7702026	7702026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7702026A>G	ENST00000572933.1	+	55	10009	c.8549A>G	c.(8548-8550)gAa>gGa	p.E2850G	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2850	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)			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)				AAGCCTGATGAATTTGAAGAG	0.507																																						ENST00000572933.1	1.000000	0.180000	5.200000e-01	2.600000e-01	0.350000	0.424387	0.350000	0.330000																										0				189						c.(8548-8550)gAa>gGa		dynein, axonemal, heavy chain 2							108.0	104.0	105.0					17																	7702026		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7702026A>G	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.8549A>G	chr17.hg19:g.7702026A>G	ENSP00000458355:p.Glu2850Gly	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G	p.E2850G			1	2	3	2.017774	Q9P225	DYH2_HUMAN		55	10009	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.8549A>G	CCDS32551.1	0	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715086	0.89112	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.66	5.66	0.87406	5.66	5.66	0.87406	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87871	0.2671	10	0.87932	D	0	.	14.8707	0.70456	1.0:0.0:0.0:0.0	.	2850	Q9P225	DYH2_HUMAN	G	2850	ENSP00000373825:E2850G	ENSP00000353818:E2850G	E	+	2	0	0	DNAH2	7642751	7642751	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.518000	0.90559	2.166000	0.68216	0.454000	0.30748	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-11.693000	1	0.170000	NM_020877			12	12		414	406	0		1			0	0	89	0		9.990374e-01	0	0	0	0	0	0	12	414
LGALS3BP	3959	broad.mit.edu	37	17	76969225	76969225	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76969225G>T	ENST00000262776.3	-	5	764	c.456C>A	c.(454-456)ggC>ggA	p.G152G	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACAGGTCGCAGCCCCGCTGGC	0.647																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3	1.000000	0.380000	1	6.000000e-01	0.910000	0.835802	0.910000	1.000000																										0				17						c.(454-456)ggC>ggA		lectin, galactoside-binding, soluble, 3 binding protein							27.0	24.0	25.0					17																	76969225		2202	4300	6502	SO:0001819	synonymous_variant	3959	0	0					g.chr17:76969225G>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.456C>A	chr17.hg19:g.76969225G>T		0					LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	p.G152G	NM_005567.3	NP_005558.1	1	2	3	2.013100	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)	5	764	-			Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	0	1	hg19	c.456C>A	CCDS11759.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	0	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-11.193780	1	0.170000	NM_005567			6	5		78	78	0		1	1		0	0	22	0		9.655487e-01	1	0	376	0	2824	0	6	78
C1QTNF1	114897	broad.mit.edu	37	17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000339142.2	+	4	817	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	88					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(262-264)Gcc>Tcc		C1q and tumor necrosis factor related protein 1							74.0	75.0	75.0					17																	77042743		2203	4300	6503	SO:0001583	missense	114897	0	0					g.chr17:77042743G>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.262G>T	chr17.hg19:g.77042743G>T	ENSP00000340864:p.Ala88Ser	0		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S	p.A88S	NM_198593.3	NP_940995.1	1	2	3	2.013100	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)	4	817	+			Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	1	1	hg19	c.262G>T	CCDS11761.1	1	.	.	.	.	.	.	.	.	.	.	g	2.674	-0.276982	0.05679	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.94232	-3.38;-1.51;-3.38	4.21	2.14	0.27477	4.21	2.14	0.27477	.	0.290748	0.24652	N	0.036704	D	0.83018	0.5163	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.19;0.116	B;B;B	0.30105	0.111;0.111;0.111	T	0.69658	-0.5086	10	0.14252	T	0.57	.	10.5504	0.45085	0.0:0.5937:0.4063:0.0	.	98;98;88	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	88;6;98;88;98	ENSP00000340864:A88S;ENSP00000311265:A6S;ENSP00000343230:A98S	ENSP00000311265:A6S	A	+	1	0	0	C1QTNF1	74554338	74554338	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.715000	0.25822	0.489000	0.27749	-0.319000	0.08680	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-3.159521	1	0.170000	NM_030968			112	111		539	530	1		1	1		0	0	109	0		1	9.999946e-01	0	11	0	73	0	112	539
DNAH2	146754	broad.mit.edu	37	17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4258					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)				CCGGGACTTGGCCATGCGTGT	0.572																																						ENST00000572933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				189						c.(12772-12774)Gcc>Acc		dynein, axonemal, heavy chain 2							97.0	103.0	101.0					17																	7735942		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7735942G>A	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.12772G>A	chr17.hg19:g.7735942G>A	ENSP00000458355:p.Ala4258Thr	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T	p.A4258T			1	2	3	2.017774	Q9P225	DYH2_HUMAN		83	14232	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.12772G>A	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697938	0.30142	.	.	ENSG00000183914	ENST00000389173	T	0.08458	3.09	5.41	5.41	0.78517	5.41	5.41	0.78517	Dynein heavy chain (1);	0.376486	0.26586	N	0.023552	T	0.07503	0.0189	N	0.16098	0.37	0.80722	D	1	B	0.18310	0.027	B	0.22152	0.038	T	0.34054	-0.9844	10	0.49607	T	0.09	.	17.9726	0.89118	0.0:0.0:1.0:0.0	.	4258	Q9P225	DYH2_HUMAN	T	4258	ENSP00000373825:A4258T	ENSP00000373825:A4258T	A	+	1	0	0	DNAH2	7676667	7676667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.988000	0.49386	2.546000	0.85860	0.591000	0.81541	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-20.000000	1	0.170000	NM_020877			182	181		794	768	1		1	1		0	0	173	0		1	8.741636e-01	0	9	0	9	0	182	794
KDM6B	23135	broad.mit.edu	37	17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000448097.2	+	11	1662	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000254846.5_Missense_Mutation_p.S444I			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	444	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGGCACACAGCAGTCGGAAA	0.657																																						ENST00000448097.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1330-1332)aGc>aTc		lysine (K)-specific demethylase 6B							23.0	25.0	24.0					17																	7750937		2203	4300	6503	SO:0001583	missense	23135	0	0					g.chr17:7750937G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1331G>T	chr17.hg19:g.7750937G>T	ENSP00000412513:p.Ser444Ile	0					KDM6B_ENST00000254846.5_Missense_Mutation_p.S444I	p.S444I			1	2	3	2.017774	O15054	KDM6B_HUMAN		11	1662	+			C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	1	1	hg19	c.1331G>T		1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549796	0.27652	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.09163	3.01;3.01	4.19	3.23	0.37069	4.19	3.23	0.37069	.	0.355288	0.27185	N	0.020531	T	0.07548	0.0190	N	0.14661	0.345	0.26903	N	0.967064	B	0.28880	0.226	B	0.34138	0.176	T	0.25117	-1.0141	10	0.52906	T	0.07	-4.2785	9.4896	0.38951	0.1015:0.0:0.8985:0.0	.	444	O15054-1	.	I	444	ENSP00000254846:S444I;ENSP00000412513:S444I	ENSP00000254846:S444I	S	+	2	0	0	KDM6B	7691662	7691662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.180000	0.42537	1.129000	0.42072	0.561000	0.74099	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	XM_043272			36	36		140	136	0		1	1		0	0	29	0		1	9.877339e-01	0	6	0	24	0	36	140
KDM6B	23135	broad.mit.edu	37	17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000448097.2	+	11	2306	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000254846.5_Missense_Mutation_p.G659R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	659	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGTGCCGCCCGGGGTTGGGGA	0.687																																						ENST00000448097.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1975-1977)Ggg>Agg		lysine (K)-specific demethylase 6B							25.0	32.0	30.0					17																	7751581		2072	4103	6175	SO:0001583	missense	23135	1	120434	29				g.chr17:7751581G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1975G>A	chr17.hg19:g.7751581G>A	ENSP00000412513:p.Gly659Arg	0					KDM6B_ENST00000254846.5_Missense_Mutation_p.G659R	p.G659R			1	2	3	2.017774	O15054	KDM6B_HUMAN		11	2306	+			C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	1	1	hg19	c.1975G>A		1	.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538130	0.04082	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.07216	3.21;3.21	4.52	-3.84	0.04256	4.52	-3.84	0.04256	.	1.227230	0.05789	N	0.609988	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.28530	T	0.3	0.4754	11.6493	0.51279	0.3807:0.0:0.6193:0.0	.	659	O15054-1	.	R	659	ENSP00000254846:G659R;ENSP00000412513:G659R	ENSP00000254846:G659R	G	+	1	0	0	KDM6B	7692306	7692306	0.003000	0.15002	0.056000	0.19401	0.038000	0.13279	-0.068000	0.11561	-0.664000	0.05324	-2.436000	0.00213	GGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.069774	1	0.170000	XM_043272			99	97		395	383	0		1	1		0	0	107	0		1	9.989414e-01	0	10	0	33	0	99	395
KDM6B	23135	broad.mit.edu	37	17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000448097.2	+	11	3440	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000254846.5_Missense_Mutation_p.D1037N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1037					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTCCCGGCCCGATCTTGGCGG	0.662																																						ENST00000448097.2	1.000000	0.380000	1	5.800000e-01	0.860000	0.817678	0.860000	1.000000																										0				37						c.(3109-3111)Gat>Aat		lysine (K)-specific demethylase 6B							14.0	13.0	13.0					17																	7752715		2180	4266	6446	SO:0001583	missense	23135	3	120620	32				g.chr17:7752715G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3109G>A	chr17.hg19:g.7752715G>A	ENSP00000412513:p.Asp1037Asn	0					KDM6B_ENST00000254846.5_Missense_Mutation_p.D1037N	p.D1037N			1	2	3	2.017774	O15054	KDM6B_HUMAN		11	3440	+			C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	0	1	hg19	c.3109G>A		1	.	.	.	.	.	.	.	.	.	.	G	6.299	0.423180	0.11928	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32753	1.44;1.44	3.67	3.67	0.42095	3.67	3.67	0.42095	.	0.510853	0.15246	N	0.272627	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.041	B;B	0.18561	0.007;0.022	T	0.11012	-1.0605	10	0.30854	T	0.27	-1.9598	13.2917	0.60274	0.0:0.0:1.0:0.0	.	1037;1037	O15054;O15054-1	KDM6B_HUMAN;.	N	1037	ENSP00000254846:D1037N;ENSP00000412513:D1037N	ENSP00000254846:D1037N	D	+	1	0	0	KDM6B	7693440	7693440	0.757000	0.28394	0.032000	0.17829	0.529000	0.34654	3.116000	0.50399	2.074000	0.62210	0.462000	0.41574	GAT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-11.593890	1	0.170000	XM_043272			7	7		97	92	1		1	1		0	0	20	0		9.775262e-01	9.852089e-01	0	15	0	96	0	7	97
KDM6B	23135	broad.mit.edu	37	17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000448097.2	+	14	4172	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000254846.5_Missense_Mutation_p.A1281T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1281					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617																																						ENST00000448097.2	1.000000	0.580000	1	7.100000e-01	0.850000	0.854286	0.850000	1.000000																										0				37						c.(3841-3843)Gca>Aca		lysine (K)-specific demethylase 6B							125.0	105.0	112.0					17																	7754506		2203	4300	6503	SO:0001583	missense	23135	0	0					g.chr17:7754506G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3841G>A	chr17.hg19:g.7754506G>A	ENSP00000412513:p.Ala1281Thr	0					KDM6B_ENST00000254846.5_Missense_Mutation_p.A1281T	p.A1281T			1	2	3	2.017774	O15054	KDM6B_HUMAN		14	4172	+			C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	1	1	hg19	c.3841G>A		1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928187	0.73327	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79845	-1.31;-1.31	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	D	0.92249	0.5807	10	0.87932	D	0	-8.676	17.333	0.87271	0.0:0.0:1.0:0.0	.	1281;1281	O15054;O15054-1	KDM6B_HUMAN;.	T	1281	ENSP00000254846:A1281T;ENSP00000412513:A1281T	ENSP00000254846:A1281T	A	+	1	0	0	KDM6B	7695231	7695231	1.000000	0.71417	0.936000	0.37596	0.871000	0.50021	6.254000	0.72460	2.718000	0.92993	0.650000	0.86243	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-3.221883	1	0.170000	XM_043272			31	31		410	403	0		1	1		0	0	108	0		1	9.941109e-01	0	8	0	98	0	31	410
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577																																						ENST00000339142.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(679-681)Gac>Aac		C1q and tumor necrosis factor related protein 1							133.0	104.0	114.0					17																	77044003		2203	4300	6503	SO:0001583	missense	114897	1	121412	31				g.chr17:77044003G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.679G>A	chr17.hg19:g.77044003G>A	ENSP00000340864:p.Asp227Asn	0					C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N	p.D227N	NM_198593.3	NP_940995.1	1	2	3	2.013100	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)	5	1234	+			Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	1	1	hg19	c.679G>A	CCDS11761.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	0	C1QTNF1	74555598	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_030968			63	63		290	288	1		1	1		0	0	60	0		1	1	0	38	0	162	0	63	290
ENPP7	339221	broad.mit.edu	37	17	77708906	77708906	+	Missense_Mutation	SNP	C	C	T	rs376880357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77708906C>T	ENST00000328313.5	+	3	685	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											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)			GTGGCTGTGACGCGGAGCCGG	0.592																																						ENST00000328313.5	1.000000	0.130000	4.500000e-01	2.000000e-01	0.290000	0.361101	0.290000	0.270000																										0				34						c.(463-465)aCg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 7		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	62.0	51.0	55.0		464	4.0	0.8	17		55	0,8600		0,0,4300	no	missense	ENPP7	NM_178543.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/459	77708906	1,13005	2203	4300	6503	SO:0001583	missense	339221	10	121398	38				g.chr17:77708906C>T	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.464C>T	chr17.hg19:g.77708906C>T	ENSP00000332656:p.Thr155Met	0						p.T155M	NM_178543.3	NP_848638.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	3	685	+				Missense_Mutation	SNP	ENST00000328313.5	0	1	hg19	c.464C>T	CCDS11763.1	0	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924791	0.18056	2.27E-4	0.0	ENSG00000182156	ENST00000328313	T	0.73152	-0.72	5.0	3.98	0.46160	5.0	3.98	0.46160	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.685970	0.03101	N	0.161042	T	0.78027	0.4219	M	0.84156	2.68	0.09310	N	1	P	0.44478	0.836	P	0.44623	0.455	T	0.62845	-0.6768	10	0.44086	T	0.13	-9.8491	9.2231	0.37388	0.3944:0.4916:0.114:0.0	.	155	Q6UWV6	ENPP7_HUMAN	M	155	ENSP00000332656:T155M	ENSP00000332656:T155M	T	+	2	0	0	ENPP7	75323501	75323501	0.005000	0.15991	0.848000	0.33437	0.200000	0.23975	1.814000	0.38972	2.308000	0.77769	0.591000	0.81541	ACG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	0	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-8.013983	1	0.170000	NM_178543			8	8		343	336	0		1	0		0	0	65	0		9.886745e-01	7.202189e-04	0	0	0	2	0	8	343
ENPP7	339221	broad.mit.edu	37	17	77709051	77709051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											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)			CCACGGGCCACAGGTACGGCC	0.657																																						ENST00000328313.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(607-609)caC>caT		ectonucleotide pyrophosphatase/phosphodiesterase 7							50.0	46.0	48.0					17																	77709051		2203	4300	6503	SO:0001819	synonymous_variant	339221	0	0					g.chr17:77709051C>T	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.609C>T	chr17.hg19:g.77709051C>T		0						p.H203H	NM_178543.3	NP_848638.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	3	830	+				Silent	SNP	ENST00000328313.5	1	1	hg19	c.609C>T	CCDS11763.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_178543			50	50		254	250	1		1	0		0	0	36	0		1	0	0	0	0	1	0	50	254
ENPP7	339221	broad.mit.edu	37	17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											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)			GGAGATGGTGCGGCAGGTGGA	0.657																																						ENST00000328313.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(649-651)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 7							46.0	46.0	46.0					17																	77709091		2203	4300	6503	SO:0001583	missense	339221	1	121406	32				g.chr17:77709091C>T	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.649C>T	chr17.hg19:g.77709091C>T	ENSP00000332656:p.Arg217Trp	0						p.R217W	NM_178543.3	NP_848638.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	3	870	+				Missense_Mutation	SNP	ENST00000328313.5	1	1	hg19	c.649C>T	CCDS11763.1	1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456406	0.63401	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	4.75	-7.62	0.01294	4.75	-7.62	0.01294	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.834740	0.03017	N	0.150178	T	0.77698	0.4169	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.58970	0.849	T	0.73824	-0.3861	10	0.72032	D	0.01	-3.7225	2.7238	0.05208	0.3744:0.241:0.2928:0.0918	.	217	Q6UWV6	ENPP7_HUMAN	W	217	ENSP00000332656:R217W	ENSP00000332656:R217W	R	+	1	2	2	ENPP7	75323686	75323686	0.000000	0.05858	0.015000	0.15790	0.864000	0.49448	-0.162000	0.10012	-0.936000	0.03723	-0.282000	0.10007	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	0		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000	NM_178543			67	63		245	237	1		1			0	0	36	0		1	0	0	0	0	0	0	67	245
ENPP7	339221	broad.mit.edu	37	17	77711050	77711050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											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)			GCTGCCCATGCTGCACACAGG	0.637																																						ENST00000328313.5	1.000000	0.600000	1	8.300000e-01	0.990000	0.942465	0.990000	1.000000																										0				34						c.(1237-1239)Ctg>Ttg		ectonucleotide pyrophosphatase/phosphodiesterase 7							28.0	24.0	25.0					17																	77711050		2202	4300	6502	SO:0001819	synonymous_variant	339221	0	0					g.chr17:77711050C>T	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.1237C>T	chr17.hg19:g.77711050C>T		0						p.L413L	NM_178543.3	NP_848638.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	4	1458	+				Silent	SNP	ENST00000328313.5	0	1	hg19	c.1237C>T	CCDS11763.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-17.601660	1	0.170000	NM_178543			11	11		108	107	1		1			0	0	18	0		9.985275e-01	0	0	0	0	0	0	11	108
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											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)			GGAAGATCTGCTCTCCCGCCC	0.597																																						ENST00000328313.5	1.000000	0.250000	5.500000e-01	3.200000e-01	0.410000	0.468718	0.410000	0.400000																										0				34						c.(1300-1302)gCt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 7							109.0	98.0	102.0					17																	77711769		2203	4300	6503	SO:0001583	missense	339221	0	0					g.chr17:77711769C>A	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.1301C>A	chr17.hg19:g.77711769C>A	ENSP00000332656:p.Ala434Asp	0						p.A434D	NM_178543.3	NP_848638.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	5	1522	+				Missense_Mutation	SNP	ENST00000328313.5	1	1	hg19	c.1301C>A	CCDS11763.1	0	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	0	ENPP7	75326364	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-16.970250	1	0.170000	NM_178543			19	17		544	536	0		1	0		0	0	102	0		9.999892e-01	0	0	0	0	1	0	19	544
CHD3	1107	broad.mit.edu	37	17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000330494.7	+	11	1985	c.1835C>A	c.(1834-1836)cCg>cAg	p.P612Q	CHD3_ENST00000380358.4_Missense_Mutation_p.P671Q|CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612					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)			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)				GTGAAAGACCCGCACTATGCT	0.547																																						ENST00000330494.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1834-1836)cCg>cAg		chromodomain helicase DNA binding protein 3							157.0	124.0	135.0					17																	7800528		2203	4300	6503	SO:0001583	missense	1107	0	0					g.chr17:7800528C>A	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.1835C>A	chr17.hg19:g.7800528C>A	ENSP00000332628:p.Pro612Gln	0					CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q|CHD3_ENST00000380358.4_Missense_Mutation_p.P671Q	p.P612Q	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		11	1985	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	1	1	hg19	c.1835C>A	CCDS32554.1	1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750561	0.69533	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000418	T	0.79975	0.4539	L	0.49126	1.545	0.80722	D	1	D;D;D	0.63046	0.989;0.98;0.992	P;P;P	0.62740	0.906;0.808;0.862	T	0.76594	-0.2902	10	0.34782	T	0.22	-17.69	19.7619	0.96323	0.0:1.0:0.0:0.0	.	612;612;671	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	671;612;612	ENSP00000369716:P671Q;ENSP00000350907:P612Q;ENSP00000332628:P612Q	ENSP00000332628:P612Q	P	+	2	0	0	CHD3	7741253	7741253	1.000000	0.71417	0.349000	0.25694	0.807000	0.45602	7.757000	0.85209	2.681000	0.91329	0.561000	0.74099	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-2.398806	0	0.170000	NM_001005273			84	81		365	360	1		1	1		0	0	99	0		1	1	0	3	0	121	0	84	365
CBX2	84733	broad.mit.edu	37	17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	214					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706																																						ENST00000310942.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(640-642)cTg>cGg		chromobox homolog 2							15.0	20.0	18.0					17																	77757883		2160	4263	6423	SO:0001583	missense	84733	0	0					g.chr17:77757883T>G	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.641T>G	chr17.hg19:g.77757883T>G	ENSP00000308750:p.Leu214Arg	0						p.L214R	NM_005189.2	NP_005180.1	1	2	3	2.013100	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)	5	745	+			Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	1	1	hg19	c.641T>G	CCDS32757.1	1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345067	0.61073	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	1.293620	0.04930	N	0.456680	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52631	-0.8550	9	0.08837	T	0.75	-1.1594	15.206	0.73180	0.0:0.0:0.0:1.0	.	214	Q14781	CBX2_HUMAN	R	214	.	ENSP00000308750:L214R	L	+	2	0	0	CBX2	75372478	75372478	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	2.464000	0.45067	2.083000	0.62718	0.533000	0.62120	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_032647			58	57		210	201	1		1	0		0	0	40	0		1	4.838048e-02	0	0	0	2	0	58	210
CCDC40	55036	broad.mit.edu	37	17	78024044	78024044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	ENST00000397545.4	+	7	1148	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N|CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	374					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)				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)			GCTCTCTACACCAAGACCTGC	0.657																																						ENST00000397545.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				38						c.(1120-1122)aCc>aAc		coiled-coil domain containing 40							9.0	13.0	12.0					17																	78024044		2085	4205	6290	SO:0001583	missense	55036	0	0					g.chr17:78024044C>A	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.1121C>A	chr17.hg19:g.78024044C>A	ENSP00000380679:p.Thr374Asn	0					CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N|CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N	p.T374N	NM_017950.3	NP_060420.2	1	2	3	2.013100	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)	7	1148	+	all_neural(118;0.167)		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	0	1	hg19	c.1121C>A	CCDS42395.1	1	.	.	.	.	.	.	.	.	.	.	C	8.144	0.785905	0.16189	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84944	0.94;-1.92;0.93;0.94	4.7	-1.27	0.09347	4.7	-1.27	0.09347	.	.	.	.	.	T	0.68632	0.3022	N	0.17474	0.49	0.09310	N	1	B;B;B	0.16603	0.018;0.003;0.001	B;B;B	0.16289	0.015;0.001;0.002	T	0.51849	-0.8653	9	0.11485	T	0.65	-6.5075	8.3251	0.32151	0.6184:0.2918:0.0:0.0898	.	374;374;157	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	N	374	ENSP00000364011:T374N;ENSP00000269318:T374N;ENSP00000364010:T374N;ENSP00000380679:T374N	ENSP00000269318:T374N	T	+	2	0	0	CCDC40	75638639	75638639	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.728000	0.26013	0.034000	0.15491	0.655000	0.94253	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	0		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	XM_371082			17	17		59	59	0		1	0		0	0	9	0		9.999844e-01	7.819851e-01	0	1	0	11	0	17	59
CHD3	1107	broad.mit.edu	37	17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000330494.7	+	16	2810	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	CHD3_ENST00000380358.4_Missense_Mutation_p.R946Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	887	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)				GAGGCCCATCGACTCAAGAAC	0.468																																						ENST00000330494.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999720	0.990000	1.000000																										0				65						c.(2659-2661)cGa>cAa		chromodomain helicase DNA binding protein 3							99.0	84.0	89.0					17																	7803329		2203	4300	6503	SO:0001583	missense	1107	0	0					g.chr17:7803329G>A	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.2660G>A	chr17.hg19:g.7803329G>A	ENSP00000332628:p.Arg887Gln	0					CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R946Q	p.R887Q	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		16	2810	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	1	1	hg19	c.2660G>A	CCDS32554.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092861	0.76756	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93307	-3.2;-3.2;-3.2	5.4	5.4	0.78164	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.40144	N	0.001170	D	0.94814	0.8325	L	0.42581	1.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60949	0.811;0.881;0.881	D	0.95076	0.8209	10	0.87932	D	0	-14.6293	19.3554	0.94410	0.0:0.0:1.0:0.0	.	887;887;946	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	946;887;887	ENSP00000369716:R946Q;ENSP00000350907:R887Q;ENSP00000332628:R887Q	ENSP00000332628:R887Q	R	+	2	0	0	CHD3	7744054	7744054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.813000	0.96785	0.561000	0.74099	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-13.351850	1	0.170000	NM_001005273			24	24		140	133	1		1	1		0	0	46	0		9.999997e-01	9.999924e-01	0	11	0	107	0	24	140
CCDC40	55036	broad.mit.edu	37	17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T	rs370720427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					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)				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)			AAGGCCGAGACGGAGAGGATC	0.502																																						ENST00000397545.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1279-1281)aCg>aTg		coiled-coil domain containing 40		C	MET/THR	0,4146		0,0,2073	63.0	68.0	66.0		1280	-7.3	0.0	17		66	2,8406		0,2,4202	no	missense	CCDC40	NM_017950.3	81	0,2,6275	TT,TC,CC		0.0238,0.0,0.0159	benign	427/1143	78032413	2,12552	2073	4204	6277	SO:0001583	missense	55036	3	120994	40				g.chr17:78032413C>T	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.1280C>T	chr17.hg19:g.78032413C>T	ENSP00000380679:p.Thr427Met	0					CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M	p.T427M	NM_017950.3	NP_060420.2	1	2	3	2.013100	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)	8	1307	+	all_neural(118;0.167)		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	1	1	hg19	c.1280C>T	CCDS42395.1	1	.	.	.	.	.	.	.	.	.	.	C	2.861	-0.236089	0.05944	0.0	2.38E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.48201	0.85;1.95;0.82;0.85	4.97	-7.27	0.01461	4.97	-7.27	0.01461	.	.	.	.	.	T	0.24812	0.0602	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30584	0.109;0.089;0.286	B;B;B	0.18263	0.016;0.006;0.021	T	0.05257	-1.0896	9	0.31617	T	0.26	-6.0308	16.0752	0.80965	0.0:0.3129:0.0:0.6871	.	427;427;210	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	M	427	ENSP00000364011:T427M;ENSP00000269318:T427M;ENSP00000364010:T427M;ENSP00000380679:T427M	ENSP00000269318:T427M	T	+	2	0	0	CCDC40	75647008	75647008	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.337000	0.02657	-1.470000	0.01888	-0.253000	0.11424	ACG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	XM_371082			43	43		185	184	1		1	1		0	0	39	0		1	8.934849e-01	0	3	0	16	0	43	185
CHD3	1107	broad.mit.edu	37	17	7806616	7806616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000330494.7	+	23	3672	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	CHD3_ENST00000380358.4_Silent_p.G1233G|CHD3_ENST00000358181.4_Silent_p.G1174G|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1174	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)				ATCGGATTGGCCAGGCCAACA	0.582																																						ENST00000330494.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3520-3522)ggC>ggT		chromodomain helicase DNA binding protein 3							61.0	63.0	63.0					17																	7806616		2203	4300	6503	SO:0001819	synonymous_variant	1107	0	0					g.chr17:7806616C>T	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.3522C>T	chr17.hg19:g.7806616C>T		0					SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.G1174G|CHD3_ENST00000380358.4_Silent_p.G1233G	p.G1174G	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		23	3672	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	1	1	hg19	c.3522C>T	CCDS32554.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		15	2	2	0		0	1	95		95	91	1	2.060000	-3.609041	1	0.170000	NM_001005273			89	87		317	307	1		1	1		0	0	95	1		1	1	0	6	0	108	0	89	317
CCDC40	55036	broad.mit.edu	37	17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	661					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)				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)			GAAGGAGAAGACCAACATGGT	0.622																																						ENST00000397545.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				38						c.(1981-1983)Acc>Gcc		coiled-coil domain containing 40							34.0	37.0	36.0					17																	78055849		2169	4278	6447	SO:0001583	missense	55036	0	0					g.chr17:78055849A>G	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.1981A>G	chr17.hg19:g.78055849A>G	ENSP00000380679:p.Thr661Ala	0					CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	p.T661A	NM_017950.3	NP_060420.2	1	2	3	2.013100	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)	12	2008	+	all_neural(118;0.167)		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	1	1	hg19	c.1981A>G	CCDS42395.1	1	.	.	.	.	.	.	.	.	.	.	A	9.233	1.036266	0.19669	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.91	4.86	4.86	0.63082	4.86	4.86	0.63082	.	.	.	.	.	T	0.44582	0.1300	M	0.69823	2.125	0.32611	N	0.524658	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.009	T	0.51060	-0.8753	9	0.15499	T	0.54	-41.126	10.5946	0.45329	0.8386:0.1614:0.0:0.0	.	661;444	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	A	661	ENSP00000364011:T661A;ENSP00000380679:T661A	ENSP00000364011:T661A	T	+	1	0	0	CCDC40	75670444	75670444	0.907000	0.30839	1.000000	0.80357	0.977000	0.68977	1.387000	0.34430	1.794000	0.52575	0.533000	0.62120	ACC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	XM_371082			30	29		157	152	1		1	1		0	0	28	0		1	2.579529e-01	0	2	0	4	0	30	157
CHD3	1107	broad.mit.edu	37	17	7810694	7810694	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000330494.7	+	32	4962	c.4812A>G	c.(4810-4812)ccA>ccG	p.P1604P	CHD3_ENST00000380358.4_Silent_p.P1663P|CHD3_ENST00000358181.4_Silent_p.P1604P|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1604	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)			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)				GCCCAGCCCCATCACTTGGGG	0.647																																						ENST00000330494.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4810-4812)ccA>ccG		chromodomain helicase DNA binding protein 3							37.0	40.0	39.0					17																	7810694		2203	4300	6503	SO:0001819	synonymous_variant	1107	0	0					g.chr17:7810694A>G	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.4812A>G	chr17.hg19:g.7810694A>G		0					SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.P1604P|CHD3_ENST00000380358.4_Silent_p.P1663P	p.P1604P	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		32	4962	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	1	1	hg19	c.4812A>G	CCDS32554.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_001005273			42	41		177	171	1		1	1		0	0	40	0		1	9.999999e-01	0	11	0	99	0	42	177
GAA	2548	broad.mit.edu	37	17	78086504	78086504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78086504G>A	ENST00000302262.3	+	13	2101	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	GAA_ENST00000390015.3_Missense_Mutation_p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	628					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CGCCTCCTCCGTGCCAGGTGA	0.687																																						ENST00000302262.3	1.000000	0.210000	1	3.700000e-01	0.630000	0.653503	0.630000	1.000000																										0				21						c.(1882-1884)Gtg>Atg		glucosidase, alpha; acid	Acarbose(DB00284)|Miglitol(DB00491)						12.0	13.0	13.0					17																	78086504		2195	4283	6478	SO:0001583	missense	2548	3	120946	30				g.chr17:78086504G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1882G>A	chr17.hg19:g.78086504G>A	ENSP00000305692:p.Val628Met	0					GAA_ENST00000390015.3_Missense_Mutation_p.V628M	p.V628M	NM_000152.3	NP_000143.2	1	2	3	2.013100	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	13	2101	+	all_neural(118;0.117)		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	0	1	hg19	c.1882G>A	CCDS32760.1	0	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733387	0.48939	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91996	-2.95;-2.95	4.97	4.97	0.65823	4.97	4.97	0.65823	Glycoside hydrolase, superfamily (1);	0.121779	0.56097	D	0.000037	D	0.94518	0.8235	M	0.66506	2.035	0.33566	D	0.597962	D	0.69078	0.997	D	0.67548	0.952	D	0.96600	0.9444	10	0.87932	D	0	-29.4845	11.3082	0.49347	0.0902:0.0:0.9098:0.0	.	628	P10253	LYAG_HUMAN	M	628	ENSP00000305692:V628M;ENSP00000374665:V628M	ENSP00000305692:V628M	V	+	1	0	0	GAA	75701099	75701099	0.989000	0.36119	0.931000	0.37212	0.043000	0.13939	2.450000	0.44943	2.270000	0.75569	0.561000	0.74099	GTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-8.023018	1	0.170000				4	4		82	81	0		1	1		0	0	9	0		8.892791e-01	9.956442e-01	0	5	0	254	0	4	82
CHD3	1107	broad.mit.edu	37	17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000330494.7	+	34	5242	c.5092C>T	c.(5092-5094)Cga>Tga	p.R1698*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1757*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1698	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)			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)				CAATGGGCGACGAGAGGAAAA	0.557																																						ENST00000330494.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(5092-5094)Cga>Tga		chromodomain helicase DNA binding protein 3							114.0	107.0	110.0					17																	7811277		2203	4300	6503	SO:0001587	stop_gained	1107	0	0					g.chr17:7811277C>T	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.5092C>T	chr17.hg19:g.7811277C>T	ENSP00000332628:p.Arg1698*	0					SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1757*	p.R1698*	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		34	5242	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	0	1	hg19	c.5092C>T	CCDS32554.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.358056	0.99551	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2051	11.0777	0.48040	0.3173:0.6827:0.0:0.0	.	.	.	.	X	1757;1664;1698;26	.	ENSP00000332628:R1698X	R	+	1	2	2	CHD3	7752002	7752002	0.142000	0.22610	0.996000	0.52242	0.980000	0.70556	0.737000	0.26144	2.509000	0.84616	0.561000	0.74099	CGA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		2	2	2	0		0	0	105		105	102	1	2.060000	-20.000000	1	0.170000	NM_001005273			84	83		432	417	0		1	1		0	0	105	0		1	9.999999e-01	0	3	0	120	0	84	432
EIF4A3	9775	broad.mit.edu	37	17	78111992	78111992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478																																						ENST00000269349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(814-816)taC>taT		eukaryotic translation initiation factor 4A3							221.0	191.0	201.0					17																	78111992		2203	4300	6503	SO:0001819	synonymous_variant	9775	1	121412	32				g.chr17:78111992G>A	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.816C>T	chr17.hg19:g.78111992G>A		0						p.Y272Y	NM_014740.3	NP_055555.1	1	2	3	2.013100	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	8	1037	-	all_neural(118;0.117)		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	1	1	hg19	c.816C>T	CCDS11767.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_014740			118	118		464	455	0		1	1		0	0	113	0		1	1	0	148	0	393	0	118	464
CHD3	1107	broad.mit.edu	37	17	7814233	7814233	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000330494.7	+	39	5973	c.5823G>A	c.(5821-5823)ggG>ggA	p.G1941G	CHD3_ENST00000380358.4_Silent_p.G2000G|CHD3_ENST00000358181.4_Silent_p.G1907G|AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1941	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)			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)				CACCCGTAGGGGCCCTGGCCG	0.642																																						ENST00000330494.7	1.000000	0.590000	9.000000e-01	6.700000e-01	0.760000	0.785833	0.760000	0.750000																										0				65						c.(5821-5823)ggG>ggA		chromodomain helicase DNA binding protein 3							59.0	68.0	65.0					17																	7814233		2202	4298	6500	SO:0001819	synonymous_variant	1107	0	0					g.chr17:7814233G>A	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.5823G>A	chr17.hg19:g.7814233G>A		0					AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000380358.4_Silent_p.G2000G	p.G1941G	NM_001005273.2	NP_001005273.1	1	2	3	2.017774	Q12873	CHD3_HUMAN		39	5973	+		Prostate(122;0.202)	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	0	1	hg19	c.5823G>A	CCDS32554.1	0	.	.	.	.	.	.	.	.	.	.	g	16.12	3.032915	0.54790	.	.	ENSG00000170004	ENST00000439235;ENST00000449744	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000514	T	0.73916	0.3648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75263	-0.3379	6	0.56958	D	0.05	-28.7992	14.888	0.70584	0.0:0.0:0.8478:0.1522	.	.	.	.	S	285;179	.	ENSP00000395252:G285S	G	+	1	0	0	CHD3	7754958	7754958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.149000	0.31626	2.745000	0.94114	0.604000	0.83254	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1		2	2	2	0		0	0	179		179	176	1	2.060000	-11.638080	1	0.170000	NM_001005273			70	70		1033	1011	0		1	0		0	0	179	0		1	5.966325e-01	0	1	0	30	0	70	1033
EIF4A3	9775	broad.mit.edu	37	17	78120716	78120716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	15					ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGAGCAGCCGCTTTCGCGCCG	0.652																																						ENST00000269349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(43-45)aaG>aaA		eukaryotic translation initiation factor 4A3							35.0	30.0	32.0					17																	78120716		2203	4295	6498	SO:0001819	synonymous_variant	9775	0	0					g.chr17:78120716C>T	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.45G>A	chr17.hg19:g.78120716C>T		0						p.K15K	NM_014740.3	NP_055555.1	1	2	3	2.013100	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	1	266	-	all_neural(118;0.117)		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	1	1	hg19	c.45G>A	CCDS11767.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_014740			67	65		209	204	0		1	1		0	0	42	0		1	1	0	44	0	120	0	67	209
CARD14	79092	broad.mit.edu	37	17	78165181	78165181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	383					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652																																						ENST00000573882.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1147-1149)gaC>gaT		caspase recruitment domain family, member 14							74.0	67.0	69.0					17																	78165181		2203	4300	6503	SO:0001819	synonymous_variant	79092	0	0					g.chr17:78165181C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1149C>T	chr17.hg19:g.78165181C>T		0					CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR	p.D383D			1	2	3	2.013100	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)	10	1685	+	all_neural(118;0.0952)		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	1	1	hg19	c.1149C>T	CCDS11768.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000				94	92		396	389	0		1	1		0	0	64	0		1	4.026593e-01	0	3	0	4	0	94	396
SGSH	6448	broad.mit.edu	37	17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	384					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637																																						ENST00000326317.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1150-1152)Ttc>Gtc		N-sulfoglucosamine sulfohydrolase							193.0	169.0	177.0					17																	78184610		2203	4300	6503	SO:0001583	missense	6448	0	0					g.chr17:78184610A>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1150T>G	chr17.hg19:g.78184610A>C	ENSP00000314606:p.Phe384Val	0					SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	p.F384V	NM_000199.3	NP_000190.1	1	2	3	2.013100	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)	8	1236	-	all_neural(118;0.0952)		A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	1	1	hg19	c.1150T>G	CCDS11770.1	1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656211	0.29425	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96365	-3.99;-3.99	4.45	2.23	0.28157	4.45	2.23	0.28157	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.133727	0.52532	D	0.000077	D	0.95459	0.8525	M	0.72479	2.2	0.37862	D	0.929755	B	0.33964	0.434	B	0.42959	0.403	D	0.94190	0.7440	10	0.72032	D	0.01	-28.2188	7.8443	0.29417	0.823:0.0:0.177:0.0	.	384	P51688	SPHM_HUMAN	V	384;181	ENSP00000314606:F384V;ENSP00000437778:F181V	ENSP00000314606:F384V	F	-	1	0	0	SGSH	75799205	75799205	0.995000	0.38212	0.768000	0.31515	0.149000	0.21700	3.137000	0.50562	0.573000	0.29400	0.459000	0.35465	TTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	1	0	1		2	2	2	0		0	0	131		131	127	1	2.060000	-20.000000	1	0.170000	NM_000199			128	125		623	610	1		1	1		0	0	131	0		1	9.999995e-01	0	21	0	79	0	128	623
SLC26A11	284129	broad.mit.edu	37	17	78215619	78215619	+	Splice_Site	SNP	C	C	T	rs367934688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000572725.1_Splice_Site_p.I345I|SLC26A11_ENST00000411502.3_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											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)			TGCTGGCCATCGGTAAGACCC	0.552																																						ENST00000361193.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1033-1035)atC>atT		solute carrier family 26 (anion exchanger), member 11		C	,,,	1,4405	2.1+/-5.4	0,1,2202	85.0	89.0	87.0		1035,1035,1035,1035	-7.6	0.3	17		87	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	345/607,345/607,345/607,345/607	78215619	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	284129	2	121412	38				g.chr17:78215619C>T		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.1036+1C>T	chr17.hg19:g.78215619C>T		0					SLC26A11_ENST00000572725.1_Splice_Site_p.I345I|SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000411502.3_Splice_Site_p.I345I	p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	1	2	3	2.013100			OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)	10	1315	+	all_neural(118;0.0538)			Splice_Site	SNP	ENST00000361193.3	1	0	hg19	c.1035C>T	CCDS11771.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000		Silent		112	110		482	477	0		1	1		0	0	79	0		1	9.975162e-01	0	13	0	28	0	112	482
RNF213	57674	broad.mit.edu	37	17	78319448	78319448	+	Missense_Mutation	SNP	G	G	A	rs148213205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78319448G>A	ENST00000582970.1	+	29	7456	c.7313G>A	c.(7312-7314)cGt>cAt	p.R2438H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2438					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCTGCGGCGTGGTGGTACC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1	1.000000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.301995	0.230000	0.210000																										0				130						c.(7312-7314)cGt>cAt		ring finger protein 213		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	88.0	90.0		7460	4.5	0.1	17	dbSNP_134	90	0,8600		0,0,4300	no	missense	RNF213	NM_020914.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2487/5257	78319448	2,13004	2203	4300	6503	SO:0001583	missense	57674	14	121412	42				g.chr17:78319448G>A	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.7313G>A	chr17.hg19:g.78319448G>A	ENSP00000464087:p.Arg2438His	0					RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	p.R2438H	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	29	7456	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	0	1	hg19	c.7313G>A	CCDS58606.1	0	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621789	0.14193	4.54E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42513	0.97	5.42	4.46	0.54185	5.42	4.46	0.54185	ATPase, AAA+ type, core (1);	0.199637	0.37053	N	0.002275	T	0.56601	0.1996	M	0.77103	2.36	0.23376	N	0.997806	D	0.64830	0.994	P	0.55260	0.772	T	0.54840	-0.8233	10	0.66056	D	0.02	.	11.4884	0.50367	0.1441:0.0:0.8559:0.0	.	511	Q63HN8	RN213_HUMAN	H	2438;2487;511	ENSP00000338218:R511H	ENSP00000338218:R511H	R	+	2	0	0	RNF213	75934043	75934043	1.000000	0.71417	0.080000	0.20451	0.044000	0.14063	3.977000	0.56874	1.524000	0.49035	0.655000	0.94253	CGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0		2	2	6	0		0	0	109		109	109	1	2.060000	-3.251074	1	0.170000	NM_020914			9	11		492	482	0		1	1	1	0	1	109	1035		9.938651e-01	5.532290e-01	9.953272e-01	7	17	90	1099	9	492
RNF213	57674	broad.mit.edu	37	17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000582970.1	+	39	11354	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3737					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGCCCAAGAAGTTCGTGG	0.577																																						ENST00000582970.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				130						c.(11209-11211)aaG>aaT		ring finger protein 213							61.0	59.0	60.0					17																	78335544		2203	4300	6503	SO:0001583	missense	57674	0	0					g.chr17:78335544G>T	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.11211G>T	chr17.hg19:g.78335544G>T	ENSP00000464087:p.Lys3737Asn	0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N|CTD-2047H16.4_ENST00000572151.1_RNA	p.K3737N	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	39	11354	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	1	1	hg19	c.11211G>T	CCDS58606.1	1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288165	0.23478	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.68	-0.755	0.11061	5.68	-0.755	0.11061	.	1.121610	0.06565	N	0.747374	T	0.20536	0.0494	L	0.54323	1.7	0.20196	N	0.999921	B;P	0.35656	0.418;0.514	B;B	0.29716	0.083;0.106	T	0.26360	-1.0105	10	0.45353	T	0.12	.	4.8917	0.13730	0.2001:0.1043:0.5889:0.1067	.	3786;1810	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3737;3786;1810	ENSP00000338218:K1810N	ENSP00000338218:K1810N	K	+	3	2	2	RNF213	75950139	75950139	0.950000	0.32346	0.020000	0.16555	0.005000	0.04900	1.469000	0.35343	0.026000	0.15269	-0.140000	0.14226	AAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_020914			53	53		286	279	1		1	1	1	0	0	52	227		1	1	1	59	69	157	207	53	286
TRAPPC1	58485	broad.mit.edu	37	17	7834371	7834371	+	Silent	SNP	G	G	A	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.G89G|CNTROB_ENST00000565740.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	89					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGTCCCACGCCCAAGTCAG	0.562																																						ENST00000303731.4	1.000000	0.230000	6.400000e-01	3.200000e-01	0.440000	0.500364	0.440000	0.420000																										0				3						c.(265-267)ggC>ggT		trafficking protein particle complex 1		G	,	3,4403	6.2+/-15.9	0,3,2200	103.0	91.0	95.0		267,267	-0.8	1.0	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC1	NM_001166621.1,NM_021210.4	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	89/146,89/146	7834371	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	58485	3	121412	36				g.chr17:7834371G>A	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.267C>T	chr17.hg19:g.7834371G>A		0					TRAPPC1_ENST00000540486.1_Silent_p.G89G|CNTROB_ENST00000380262.3_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000565740.1_5'Flank	p.G89G	NM_021210.4	NP_067033.1	1	2	3	2.017774	Q9Y5R8	TPPC1_HUMAN		3	382	-		Prostate(122;0.173)	D3DTR0	Silent	SNP	ENST00000303731.4	1	1	hg19	c.267C>T	CCDS11125.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	0	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.260238	1	0.170000	NM_021210			12	12		331	322	0		1	1		0	0	63	0		9.990080e-01	9.999997e-01	0	54	0	886	0	12	331
RNF213	57674	broad.mit.edu	37	17	78337097	78337097	+	Silent	SNP	C	C	T	rs528998140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000582970.1	+	40	11694	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	RNF213_ENST00000508628.2_Silent_p.L3900L|RNF213_ENST00000336301.6_Silent_p.L1924L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3851					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAACCATGAGCTGGCTGGATG	0.567																																						ENST00000582970.1	1.000000	0.350000	7.700000e-01	4.500000e-01	0.580000	0.616940	0.580000	0.550000																										0				130						c.(11551-11553)Ctg>Ttg		ring finger protein 213							87.0	76.0	80.0					17																	78337097		2203	4300	6503	SO:0001819	synonymous_variant	57674	2	121412	35				g.chr17:78337097C>T	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.11551C>T	chr17.hg19:g.78337097C>T		0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3900L|RNF213_ENST00000336301.6_Silent_p.L1924L|CTD-2047H16.4_ENST00000572151.1_RNA	p.L3851L	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	40	11694	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	1	1	hg19	c.11551C>T	CCDS58606.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-19.501910	1	0.170000	NM_020914			19	19		384	374	0		1	1	1	0	0	94	642		9.999890e-01	9.975688e-01	9.999999e-01	15	19	181	611	19	384
RNF213	57674	broad.mit.edu	37	17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000582970.1	+	48	12753	c.12610T>G	c.(12610-12612)Ttc>Gtc	p.F4204V	RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4204					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGGTCGTTTCCTTAAGGC	0.517																																						ENST00000582970.1	1.000000	0.810000	1	9.900000e-01	0.990000	0.986965	0.990000	1.000000																										0				130						c.(12610-12612)Ttc>Gtc		ring finger protein 213							42.0	38.0	39.0					17																	78346393		2203	4300	6503	SO:0001583	missense	57674	0	0					g.chr17:78346393T>G	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.12610T>G	chr17.hg19:g.78346393T>G	ENSP00000464087:p.Phe4204Val	0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V|CTD-2047H16.4_ENST00000572151.1_RNA	p.F4204V	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	48	12753	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	1	1	hg19	c.12610T>G	CCDS58606.1	1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656634	0.47467	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.29	4.21	0.49690	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.81239	2.535	0.35309	D	0.783728	D;D	0.89917	0.999;1.0	D;D	0.85130	0.927;0.997	T	0.62817	-0.6774	10	0.46703	T	0.11	.	11.0367	0.47804	0.0:0.0737:0.0:0.9263	.	4253;2277	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4204;4253;2277	ENSP00000338218:F2277V	ENSP00000338218:F2277V	F	+	1	0	0	RNF213	75960988	75960988	1.000000	0.71417	0.644000	0.29465	0.007000	0.05969	5.229000	0.65316	0.831000	0.34780	0.533000	0.62120	TTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.999970	1	0.170000	NM_020914			16	16		127	127	1		1	1	1	0	0	26	555		9.999509e-01	9.999998e-01	1	70	114	181	636	16	127
RNF213	57674	broad.mit.edu	37	17	78348322	78348322	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	ENST00000582970.1	+	50	13150	c.13007C>T	c.(13006-13008)gCt>gTt	p.A4336V	RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4336					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAATACAAGGCTCTCCGTGAT	0.567																																						ENST00000582970.1	1.000000	0.230000	6.100000e-01	3.100000e-01	0.430000	0.483181	0.430000	0.400000																										0				130						c.(13006-13008)gCt>gTt		ring finger protein 213							138.0	109.0	119.0					17																	78348322		2203	4300	6503	SO:0001583	missense	57674	0	0					g.chr17:78348322C>T	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.13007C>T	chr17.hg19:g.78348322C>T	ENSP00000464087:p.Ala4336Val	0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V|CTD-2047H16.4_ENST00000572151.1_RNA	p.A4336V	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	50	13150	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	1	1	hg19	c.13007C>T	CCDS58606.1	0	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116196	0.37339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	4.79	2.79	0.32731	4.79	2.79	0.32731	.	0.191148	0.45867	D	0.000332	T	0.21962	0.0529	L	0.57130	1.785	0.24566	N	0.993947	P;B	0.35793	0.521;0.007	B;B	0.30105	0.111;0.006	T	0.10636	-1.0621	10	0.49607	T	0.09	.	9.6309	0.39778	0.0:0.8364:0.0:0.1636	.	4385;2409	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4336;4385;2409	ENSP00000338218:A2409V	ENSP00000338218:A2409V	A	+	2	0	0	RNF213	75962917	75962917	0.094000	0.21725	0.281000	0.24762	0.615000	0.37417	0.431000	0.21444	0.549000	0.28973	0.561000	0.74099	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-12.205430	1	0.170000	NM_020914			12	11		338	331	0		1	1	1	0	0	74	1178		9.990267e-01	9.972864e-01	1	17	52	269	1180	12	338
CNTROB	116840	broad.mit.edu	37	17	7840525	7840525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7840525C>T	ENST00000563694.1	+	7	1797	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CNTROB_ENST00000380262.3_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	291					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCCATGGAGGCCCTGAATCGT	0.498																																						ENST00000563694.1	1.000000	0.140000	3.300000e-01	1.800000e-01	0.230000	0.318912	0.230000	0.230000																										0				25						c.(871-873)gCc>gTc		centrobin, centrosomal BRCA2 interacting protein							147.0	147.0	147.0					17																	7840525		2203	4300	6503	SO:0001583	missense	116840	0	0					g.chr17:7840525C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.872C>T	chr17.hg19:g.7840525C>T	ENSP00000456335:p.Ala291Val	0					CNTROB_ENST00000380262.3_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V	p.A291V	NM_053051.3	NP_444279.2	1	2	3	2.017774	Q8N137	CNTRB_HUMAN		7	1797	+		Prostate(122;0.173)	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	0	1	hg19	c.872C>T	CCDS11126.1	0	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282376	0.40394	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.64618	-0.11;0.8	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.093058	0.45606	D	0.000343	T	0.68897	0.3051	L	0.29908	0.895	0.39465	D	0.967631	P;D;D;D	0.76494	0.775;0.999;0.999;0.999	B;D;D;D	0.83275	0.266;0.996;0.996;0.996	T	0.66420	-0.5928	10	0.30854	T	0.27	-13.9144	15.5789	0.76418	0.0:1.0:0.0:0.0	.	291;291;291;291	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	V	291	ENSP00000369614:A291V;ENSP00000369605:A291V	ENSP00000369605:A291V	A	+	2	0	0	CNTROB	7781250	7781250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.753000	0.94483	0.591000	0.81541	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	0	0	1		2	2	2	0		0	0	226		226	223	1	2.060000	-2.609181	1	0.170000	NM_053051			19	19		967	952	0		1	1		0	0	226	0		9.999888e-01	5.470535e-01	0	2	0	90	0	19	967
CNTROB	116840	broad.mit.edu	37	17	7846813	7846813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000563694.1	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000380262.3_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000565740.1_Silent_p.R472R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	472	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622																																						ENST00000563694.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1414-1416)cgG>cgA		centrobin, centrosomal BRCA2 interacting protein							53.0	40.0	44.0					17																	7846813		2202	4300	6502	SO:0001819	synonymous_variant	116840	0	0					g.chr17:7846813G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1416G>A	chr17.hg19:g.7846813G>A		0					CNTROB_ENST00000380262.3_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000565740.1_Silent_p.R472R	p.R472R	NM_053051.3	NP_444279.2	1	2	3	2.017774	Q8N137	CNTRB_HUMAN		10	2341	+		Prostate(122;0.173)	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	1	1	hg19	c.1416G>A	CCDS11126.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_053051			50	48		255	251	1		1	1		0	0	34	0		1	9.999964e-01	0	42	0	56	0	50	255
RNF213	57674	broad.mit.edu	37	17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000582970.1	+	65	15235	c.15092C>T	c.(15091-15093)aCt>aTt	p.T5031I	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5031					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTAGAAGTCACTCTGGGGTTT	0.517																																						ENST00000582970.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				130						c.(15091-15093)aCt>aTt		ring finger protein 213							129.0	114.0	119.0					17																	78363064		2203	4300	6503	SO:0001583	missense	57674	0	0					g.chr17:78363064C>T	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.15092C>T	chr17.hg19:g.78363064C>T	ENSP00000464087:p.Thr5031Ile	0					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR	p.T5031I	NM_001256071.1	NP_001243000.1	1	2	3	2.013100	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	65	15235	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	1	1	hg19	c.15092C>T	CCDS58606.1	1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933888	0.18206	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22539	1.95	5.39	3.41	0.39046	5.39	3.41	0.39046	.	0.444633	0.22383	N	0.060799	T	0.22859	0.0552	M	0.75447	2.3	0.09310	N	1	B;B	0.24533	0.105;0.014	B;B	0.18871	0.023;0.012	T	0.16958	-1.0385	10	0.44086	T	0.13	.	8.0358	0.30491	0.0:0.6954:0.0:0.3046	.	5031;3104	D6RI12;Q63HN8	.;RN213_HUMAN	I	5031;5080;3104;381	ENSP00000338218:T3104I	ENSP00000338218:T3104I	T	+	2	0	0	RNF213	75977659	75977659	0.009000	0.17119	0.050000	0.19076	0.379000	0.30106	2.150000	0.42254	0.660000	0.30964	0.655000	0.94253	ACT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_020914			44	43		240	237	1		1	1	1	0	0	66	1521		1	1	1	87	223	278	1342	44	240
RPTOR	57521	broad.mit.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557																																						ENST00000306801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999822	0.990000	1.000000																										0				44						c.(415-417)cGc>cAc		regulatory associated protein of MTOR, complex 1							70.0	60.0	63.0					17																	78681708		2203	4300	6503	SO:0001583	missense	57521	1	121410	27				g.chr17:78681708G>A		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.416G>A	chr17.hg19:g.78681708G>A	ENSP00000307272:p.Arg139His	0					RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	p.R139H	NM_020761.2	NP_065812.1	1	2	3	2.013100	Q8N122	RPTOR_HUMAN		4	778	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	1	1	hg19	c.416G>A	CCDS11773.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	0	RPTOR	76296303	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_020761			22	22		117	115	1		1	1		0	0	22	0		9.999992e-01	9.480282e-01	0	7	0	22	0	22	117
RPTOR	57521	broad.mit.edu	37	17	78796055	78796055	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	315					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACTGGATCTTCACAGCCA	0.637																																						ENST00000306801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(943-945)atC>atA		regulatory associated protein of MTOR, complex 1							207.0	203.0	204.0					17																	78796055		2203	4300	6503	SO:0001819	synonymous_variant	57521	0	0					g.chr17:78796055C>A		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.945C>A	chr17.hg19:g.78796055C>A		0					RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I315I	p.I315I	NM_020761.2	NP_065812.1	1	2	3	2.013100	Q8N122	RPTOR_HUMAN		8	1307	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	1	1	hg19	c.945C>A	CCDS11773.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1		2	2	2	0		0	0	339		339	335	1	2.060000	-20.000000	1	0.170000	NM_020761			274	271		1400	1391	1		1	1		0	0	339	0		1	9.937569e-01	0	11	0	30	0	274	1400
RPTOR	57521	broad.mit.edu	37	17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T	rs377442287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	896					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCCAAGCAGCCGGTCAGCCG	0.652																																						ENST00000306801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999421	0.990000	1.000000																										0				44						c.(2686-2688)Ccg>Tcg		regulatory associated protein of MTOR, complex 1							38.0	41.0	40.0					17																	78897351		2201	4300	6501	SO:0001583	missense	57521	0	0					g.chr17:78897351C>T		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.2686C>T	chr17.hg19:g.78897351C>T	ENSP00000307272:p.Pro896Ser	0					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	p.P896S	NM_020761.2	NP_065812.1	1	2	3	2.013100	Q8N122	RPTOR_HUMAN		23	3048	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	1	1	hg19	c.2686C>T	CCDS11773.1	1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434890	0.62955	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44881	0.96;0.91	5.02	4.03	0.46877	5.02	4.03	0.46877	.	0.066605	0.64402	D	0.000011	T	0.55784	0.1942	L	0.53249	1.67	0.80722	D	1	D;P	0.67145	0.996;0.664	D;B	0.78314	0.991;0.217	T	0.50566	-0.8813	10	0.15952	T	0.53	.	14.3152	0.66446	0.1543:0.8457:0.0:0.0	.	738;896	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	896;738	ENSP00000307272:P896S;ENSP00000442479:P738S	ENSP00000307272:P896S	P	+	1	0	0	RPTOR	76511946	76511946	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	4.334000	0.59291	1.033000	0.39918	0.655000	0.94253	CCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_020761			37	37		264	259	1		1	1		0	0	51	0		1	8.710675e-01	0	7	0	21	0	37	264
RPTOR	57521	broad.mit.edu	37	17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1111					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATGGTGACCGCGTGGCAGGGG	0.612																																						ENST00000306801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3331-3333)gCg>gTg		regulatory associated protein of MTOR, complex 1							176.0	167.0	170.0					17																	78923309		2203	4300	6503	SO:0001583	missense	57521	0	0					g.chr17:78923309C>T		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.3332C>T	chr17.hg19:g.78923309C>T	ENSP00000307272:p.Ala1111Val	0					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	p.A1111V	NM_020761.2	NP_065812.1	1	2	3	2.013100	Q8N122	RPTOR_HUMAN		28	3694	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	1	1	hg19	c.3332C>T	CCDS11773.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.157797	0.94686	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.26660	1.72;1.72	4.66	4.66	0.58398	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.46	T	0.65751	-0.6092	10	0.56958	D	0.05	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	953;1111	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	1111;953	ENSP00000307272:A1111V;ENSP00000442479:A953V	ENSP00000307272:A1111V	A	+	2	0	0	RPTOR	76537904	76537904	1.000000	0.71417	0.057000	0.19452	0.959000	0.62525	7.353000	0.79414	2.145000	0.66743	0.462000	0.41574	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1		2	2	2	0		0	0	208		208	207	1	2.060000	-20.000000	1	0.170000	NM_020761			197	193		916	902	1		1	1		0	0	208	0		1	9.999809e-01	0	14	0	58	0	197	916
RPTOR	57521	broad.mit.edu	37	17	78933943	78933943	+	Silent	SNP	C	C	T	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_ENST00000544334.2_Silent_p.I1023I|CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1181					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCTCACTCATCGTGGCTGGCC	0.622																																						ENST00000306801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998870	0.990000	1.000000																										0				44						c.(3541-3543)atC>atT		regulatory associated protein of MTOR, complex 1		C	,	0,4406		0,0,2203	130.0	88.0	102.0		3069,3543	-1.0	1.0	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1023/1178,1181/1336	78933943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57521	2	121408	34				g.chr17:78933943C>T		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.3543C>T	chr17.hg19:g.78933943C>T		0					CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I	p.I1181I	NM_020761.2	NP_065812.1	1	2	3	2.013100	Q8N122	RPTOR_HUMAN		30	3905	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	1	1	hg19	c.3543C>T	CCDS11773.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_020761			40	40		305	299	0		1	1		0	0	65	0		1	9.963743e-01	0	10	0	58	0	40	305
BAIAP2	10458	broad.mit.edu	37	17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	116	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCCAGGTATCTGAGTGTAAG	0.597																																						ENST00000321300.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				18						c.(346-348)Ctg>Atg		BAI1-associated protein 2							83.0	72.0	76.0					17																	79059520		2203	4300	6503	SO:0001583	missense	10458	0	0					g.chr17:79059520C>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.346C>A	chr17.hg19:g.79059520C>A	ENSP00000316338:p.Leu116Met	0					BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M	p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	1	2	3	2.013100	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)	5	439	+	all_neural(118;0.101)		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	1	1	hg19	c.346C>A	CCDS11775.1	1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125868	0.20959	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.76	4.01	4.01	0.46588	4.01	4.01	0.46588	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.16862	0.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.974;1.0;1.0;0.979	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.942;0.921;1.0;1.0;0.942	T	0.24512	-1.0158	10	0.11182	T	0.66	-36.3918	15.94	0.79747	0.0:1.0:0.0:0.0	.	38;117;116;116;116;116;116;116	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	116;116;116;116;38	ENSP00000316338:L116M;ENSP00000401022:L116M;ENSP00000413069:L116M;ENSP00000315685:L116M;ENSP00000376211:L38M	ENSP00000315685:L116M	L	+	1	2	2	BAIAP2	76674115	76674115	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.066000	0.61787	0.655000	0.94253	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				41	41		228	224	1		1	1		0	0	53	0		1	9.999957e-01	0	44	0	63	0	41	228
BAIAP2	10458	broad.mit.edu	37	17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000321300.6	+	7	658	c.565G>T	c.(565-567)Gag>Tag	p.E189*	BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	189	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCACTGACAGAGGAGCGCAG	0.622																																						ENST00000321300.6	1.000000	0.230000	5.700000e-01	3.100000e-01	0.420000	0.472126	0.420000	0.400000																										0				18						c.(565-567)Gag>Tag		BAI1-associated protein 2							87.0	81.0	83.0					17																	79073803		2203	4300	6503	SO:0001587	stop_gained	10458	0	0					g.chr17:79073803G>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.565G>T	chr17.hg19:g.79073803G>T	ENSP00000316338:p.Glu189*	0					BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*	p.E189*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	1	2	3	2.013100	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)	7	658	+	all_neural(118;0.101)		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Nonsense_Mutation	SNP	ENST00000321300.6	0	1	hg19	c.565G>T	CCDS11775.1	0	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220483	0.79464	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.374	18.6597	0.91468	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;189;111;52	.	ENSP00000315685:E189X	E	+	1	0	0	BAIAP2	76688398	76688398	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	9.274000	0.95731	2.401000	0.81631	0.491000	0.48974	GAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.357740	1	0.170000				15	15		430	426	0		1	0		0	0	86	0		9.998674e-01	8.054009e-01	0	0	0	89	0	15	430
BAIAP2	10458	broad.mit.edu	37	17	79077823	79077823	+	Silent	SNP	G	G	A	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000321300.6	+	9	1074	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000416299.2_Silent_p.P190P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000428708.2_Silent_p.P327P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGTCTCCTCCGCAGTCTCAGA	0.617																																						ENST00000321300.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(979-981)ccG>ccA		BAI1-associated protein 2							91.0	95.0	93.0					17																	79077823		2203	4300	6503	SO:0001819	synonymous_variant	10458	4	121394	42				g.chr17:79077823G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.981G>A	chr17.hg19:g.79077823G>A		0					BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000416299.2_Silent_p.P190P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P	p.P327P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	1	2	3	2.013100	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)	9	1074	+	all_neural(118;0.101)		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	1	1	hg19	c.981G>A	CCDS11775.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				83	82		380	374	1		1	1		0	0	104	0		1	9.999999e-01	0	38	0	69	0	83	380
AATK	9625	broad.mit.edu	37	17	79094040	79094040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1232					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAAGGACACGGCCTTCT	0.677																																						ENST00000326724.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995686	0.990000	1.000000																										0				21						c.(3694-3696)gtG>gtA		apoptosis-associated tyrosine kinase							28.0	32.0	31.0					17																	79094040		2096	4212	6308	SO:0001819	synonymous_variant	9625	1	120424	24				g.chr17:79094040C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3696G>A	chr17.hg19:g.79094040C>T		0					AATK_ENST00000417379.1_Silent_p.V1129V	p.V1232V	NM_001080395.2	NP_001073864.2	1	2	3	2.013100	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)	11	3720	-	all_neural(118;0.101)		O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	1	1	hg19	c.3696G>A	CCDS45807.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270195	0.23221	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.98	0.325	0.15903	3.98	0.325	0.15903	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	5.1513	0.15011	0.1341:0.5377:0.2393:0.0889	.	.	.	.	Y	1185	.	.	C	-	2	0	0	AATK	76708635	76708635	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	0.446000	0.21694	0.305000	0.22832	0.313000	0.20887	TGT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_004920			23	23		173	172	1		1	1		0	0	39	0		9.999996e-01	9.793646e-01	0	18	0	32	0	23	173
AATK	9625	broad.mit.edu	37	17	79094443	79094443	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	ENST00000326724.4	-	11	3317	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1098	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAAAACTGGGAGCAGCTGGG	0.682																																						ENST00000326724.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998851	0.990000	1.000000																										0				21						c.(3292-3294)tCc>tAc		apoptosis-associated tyrosine kinase							7.0	8.0	8.0					17																	79094443		1810	4027	5837	SO:0001583	missense	9625	0	0					g.chr17:79094443G>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3293C>A	chr17.hg19:g.79094443G>T	ENSP00000324196:p.Ser1098Tyr	0					AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	p.S1098Y	NM_001080395.2	NP_001073864.2	1	2	3	2.013100	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)	11	3317	-	all_neural(118;0.101)		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	0	1	hg19	c.3293C>A	CCDS45807.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291234|3.291234	0.59976|0.59976	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.79940	.|-1.32	4.54|4.54	3.56|3.56	0.40772|0.40772	4.54|4.54	3.56|3.56	0.40772|0.40772	.|.	.|1.012940	.|0.07905	.|N	.|0.973247	T|T	0.71443|0.71443	0.3340|0.3340	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.50528	.|0.936	.|B	.|0.43225	.|0.412	T|T	0.63945|0.63945	-0.6522|-0.6522	5|10	.|0.72032	.|D	.|0.01	.|.	4.491|4.491	0.11813|0.11813	0.0901:0.1521:0.6013:0.1564|0.0901:0.1521:0.6013:0.1564	.|.	.|1098	.|Q6ZMQ8	.|LMTK1_HUMAN	T|Y	1051|1098	.|ENSP00000324196:S1098Y	.|ENSP00000324196:S1098Y	P|S	-|-	1|2	0|0	0|0	AATK|AATK	76709038|76709038	76709038|76709038	0.005000|0.005000	0.15991|0.15991	0.026000|0.026000	0.17262|0.17262	0.563000|0.563000	0.35712|0.35712	0.421000|0.421000	0.21280|0.21280	2.072000|2.072000	0.62099|0.62099	0.297000|0.297000	0.19635|0.19635	CCC|TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.983970	1	0.170000	NM_004920			11	11		47	45	1		1	1		0	0	11	0		9.986340e-01	9.236084e-01	0	12	0	10	0	11	47
CEP131	22994	broad.mit.edu	37	17	79166137	79166137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	ENST00000269392.4	-	21	2859	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		871					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGCGGCCGGCCTCCCACGC	0.701																																						ENST00000269392.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998424	0.990000	1.000000																										0				36						c.(2611-2613)gCc>gTc									9.0	10.0	10.0					17																	79166137		2145	4239	6384	SO:0001583	missense	0	0	0					g.chr17:79166137G>A																												ENST00000269392.4:c.2612C>T	chr17.hg19:g.79166137G>A	ENSP00000269392:p.Ala871Val	0					AZI1_ENST00000575907.1_Missense_Mutation_p.A835V|AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000450824.2_Missense_Mutation_p.A868V	p.A871V	NM_014984.2	NP_055799.2	1	2	3	2.013100	Q9UPN4	CP131_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)	21	2859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	0	1	hg19	c.2612C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559498	0.45590	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16196	2.36;2.42;2.36	3.17	3.17	0.36434	3.17	3.17	0.36434	.	0.186862	0.37012	N	0.002296	T	0.32585	0.0834	L	0.57536	1.79	0.39189	D	0.962925	D;D;D;D	0.76494	0.999;0.999;0.99;0.998	D;D;P;D	0.77557	0.99;0.98;0.844;0.938	T	0.06607	-1.0817	10	0.32370	T	0.25	-16.9678	10.2912	0.43596	0.0:0.0:0.8026:0.1974	.	868;871;832;868	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	868;832;871	ENSP00000393583:A868V;ENSP00000363914:A832V;ENSP00000269392:A871V	ENSP00000269392:A871V	A	-	2	0	0	AZI1	76780732	76780732	1.000000	0.71417	0.897000	0.35233	0.597000	0.36814	6.281000	0.72632	1.780000	0.52325	0.313000	0.20887	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.764030	1	0.170000				10	10		42	41	0		1	1		0	0	8	0		9.975968e-01	9.614116e-01	0	9	0	18	0	10	42
CEP131	22994	broad.mit.edu	37	17	79181033	79181033	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		93					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGGGCTCCGTTGGCCTGC	0.647																																						ENST00000269392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(277-279)acG>acA									49.0	47.0	48.0					17																	79181033		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr17:79181033C>T																												ENST00000269392.4:c.279G>A	chr17.hg19:g.79181033C>T		0					AZI1_ENST00000575907.1_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T	p.T93T	NM_014984.2	NP_055799.2	1	2	3	2.013100	Q9UPN4	CP131_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)	4	526	-	all_neural(118;0.0804)|Melanoma(429;0.242)		A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	1	1	hg19	c.279G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000				39	39		172	168	0		1	1		0	0	51	0		1	9.160578e-01	0	5	0	16	0	39	172
SLC38A10	124565	broad.mit.edu	37	17	79219815	79219815	+	Silent	SNP	G	G	A	rs372573156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	967					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)			CACCCTGCTCGCCATCAGAGA	0.687																																						ENST00000374759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2899-2901)ggC>ggT		solute carrier family 38, member 10		G		0,3992		0,0,1996	23.0	28.0	26.0		2901	-8.0	0.0	17		26	1,8319		0,1,4159	no	coding-synonymous	SLC38A10	NM_001037984.1		0,1,6155	AA,AG,GG		0.012,0.0,0.0081		967/1120	79219815	1,12311	1996	4160	6156	SO:0001819	synonymous_variant	124565	1	120272	30				g.chr17:79219815G>A	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.2901C>T	chr17.hg19:g.79219815G>A		0						p.G967G	NM_001037984.1	NP_001033073.1	1	2	3	2.013100	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)	16	3284	-	all_neural(118;0.0804)|Melanoma(429;0.242)		Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	1	1	hg19	c.2901C>T	CCDS42397.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-3.771492	1	0.170000	NM_138570			70	70		268	265	1		1	1		0	0	74	0		1	1	0	28	0	229	0	70	268
SLC38A10	124565	broad.mit.edu	37	17	79226464	79226464	+	Silent	SNP	G	G	A	rs375564146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	492					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)			GGTGGGCCTCGCCCACAGGCA	0.607																																						ENST00000374759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1474-1476)ggC>ggT		solute carrier family 38, member 10			,	1,4397		0,1,2198	48.0	40.0	43.0		1476,1476	-8.5	0.6	17		43	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC38A10	NM_001037984.1,NM_138570.2	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	492/1120,492/781	79226464	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	124565	9	121362	39				g.chr17:79226464G>A	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.1476C>T	chr17.hg19:g.79226464G>A		0					SLC38A10_ENST00000288439.5_Silent_p.G492G	p.G492G	NM_001037984.1	NP_001033073.1	1	2	3	2.013100	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)	13	1859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	1	1	hg19	c.1476C>T	CCDS42397.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-3.244785	1	0.170000	NM_138570			73	73		326	316	0		1	1		0	0	56	0		1	1	0	26	0	306	0	73	326
SLC38A10	124565	broad.mit.edu	37	17	79257209	79257209	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)			ACATCCTTACCTGAAACCCGA	0.602																																						ENST00000374759.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999704	0.990000	1.000000																										0				23						c.(355-357)caG>caT		solute carrier family 38, member 10							82.0	56.0	65.0					17																	79257209		2201	4299	6500	SO:0001630	splice_region_variant	124565	0	0					g.chr17:79257209C>A	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.357+1G>T	chr17.hg19:g.79257209C>A		0					SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H|SLC38A10_ENST00000546352.1_5'Flank	p.Q119H	NM_001037984.1	NP_001033073.1	1	2	3	2.013100	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)	4	740	-	all_neural(118;0.0804)|Melanoma(429;0.242)		Q6ZRC5|Q8NA99|Q96C66	Splice_Site	SNP	ENST00000374759.3	1	0	hg19	c.357G>T	CCDS42397.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773057	0.90108	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.10573	3.02;2.86	4.76	4.76	0.60689	4.76	4.76	0.60689	.	5.897720	0.00166	N	0.000019	T	0.32912	0.0845	L	0.48642	1.525	0.80722	D	1	P;D	0.56968	0.942;0.978	P;D	0.63703	0.693;0.917	T	0.01613	-1.1312	9	.	.	.	-14.5591	18.1105	0.89534	0.0:1.0:0.0:0.0	.	119;119	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	H	119;119;71	ENSP00000363891:Q119H;ENSP00000288439:Q119H	.	Q	-	3	2	2	SLC38A10	76871804	76871804	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_138570	Missense_Mutation		18	18		90	88	1		1	1		0	0	33	0		9.999880e-01	1	0	8	0	261	0	18	90
C17orf70	80233	broad.mit.edu	37	17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000327787.8	-	6	2271	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	742					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GACGTCCACAGCAGCATTCTC	0.637																																						ENST00000327787.8	1.000000	0.910000	1	9.900000e-01	0.990000	0.995237	0.990000	1.000000																										0				19						c.(2224-2226)gCt>gTt		chromosome 17 open reading frame 70							53.0	38.0	43.0					17																	79512857		2201	4300	6501	SO:0001583	missense	80233	0	0					g.chr17:79512857G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2225C>T	chr17.hg19:g.79512857G>A	ENSP00000333283:p.Ala742Val	0					C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V	p.A742V			1	2	3	2.013100	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)	6	2271	-	all_neural(118;0.0878)|Melanoma(429;0.242)		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	0	1	hg19	c.2225C>T	CCDS32765.2	1	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987306	0.18889	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.56	0.971	0.19698	4.56	0.971	0.19698	.	0.342070	0.24379	N	0.039031	T	0.25827	0.0629	L	0.57536	1.79	0.09310	N	1	P;P	0.36909	0.573;0.573	B;B	0.32677	0.107;0.15	T	0.19976	-1.0289	10	0.59425	D	0.04	.	2.7171	0.05190	0.4037:0.0:0.3887:0.2076	.	742;391	Q0VG06;E7EVV8	FP100_HUMAN;.	V	742;391;115;591	ENSP00000333283:A742V;ENSP00000399674:A391V;ENSP00000440151:A591V	ENSP00000333283:A742V	A	-	2	0	0	C17orf70	77123310	77123310	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.346000	0.07760	0.369000	0.24510	0.561000	0.74099	GCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_025161			21	21		156	154	1		1	1		0	0	23	0		9.999982e-01	9.974420e-01	0	20	0	54	0	21	156
C17orf70	80233	broad.mit.edu	37	17	79514338	79514338	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000327787.8	-	5	1816	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000537152.1_Silent_p.G439G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	590					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCGAGCCCGCCGTTCTCAC	0.692																																						ENST00000327787.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1768-1770)ggC>ggA		chromosome 17 open reading frame 70							32.0	33.0	33.0					17																	79514338		2201	4290	6491	SO:0001819	synonymous_variant	80233	0	0					g.chr17:79514338G>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1770C>A	chr17.hg19:g.79514338G>T		0					C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000537152.1_Silent_p.G439G	p.G590G			1	2	3	2.013100	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)	5	1816	-	all_neural(118;0.0878)|Melanoma(429;0.242)		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	1	1	hg19	c.1770C>A	CCDS32765.2	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	1	0	1		2	2	2	0		0	0	50		50	35	1	2.060000	-20.000000	1	0.170000	NM_025161			92	89		315	266	1		1	1		0	0	50	0		1	1	0	22	0	66	0	92	315
TSPAN10	83882	broad.mit.edu	37	17	79612028	79612028	+	RNA	SNP	G	G	T	rs372786016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	ENST00000572675.1	+	0	47				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642																																						ENST00000572675.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				1								tetraspanin 10							29.0	33.0	32.0					17																	79612028		2003	4172	6175			83882	0	0					g.chr17:79612028G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		chr17.hg19:g.79612028G>T		0					TSPAN10_ENST00000328585.4_RNA				1	2	3	2.013100	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)	0	47	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		Q8N548	RNA	SNP	ENST00000572675.1	1	0	hg19			1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476551	0.44044	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.07444	3.19	4.3	1.18	0.20946	4.3	1.18	0.20946	.	0.989793	0.08168	U	0.987521	T	0.07954	0.0199	N	0.24115	0.695	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.44278	0.445;0.347	T	0.37934	-0.9684	10	0.87932	D	0	-0.276	7.1517	0.25614	0.295:0.0:0.705:0.0	.	16;16	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	V	16	ENSP00000331620:G16V	ENSP00000331620:G16V	G	+	2	0	0	TSPAN10	77222433	77222433	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.530000	0.23036	0.118000	0.18165	0.462000	0.41574	GGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	0	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_031945			42	41		214	208	1		1	0		0	0	45	0		1	0	0	1	0	0	0	42	214
CCDC137	339230	broad.mit.edu	37	17	79637483	79637483	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	166							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597																																						ENST00000329214.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				12						c.(496-498)gCg>gTg		coiled-coil domain containing 137																																				SO:0001630	splice_region_variant	339230	3	120654	29				g.chr17:79637483C>T	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.497+1C>T	chr17.hg19:g.79637483C>T		0						p.A166V	NM_199287.2	NP_954981.1	1	2	3	2.013100	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)	3	900	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)			Splice_Site	SNP	ENST00000329214.8	1	0	hg19	c.497C>T	CCDS42400.1	1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442249	0.25987	.	.	ENSG00000185298	ENST00000329214	D	0.90324	-2.65	4.53	1.29	0.21616	4.53	1.29	0.21616	.	0.721738	0.13152	N	0.409835	T	0.76350	0.3975	N	0.12182	0.205	0.30472	N	0.773231	B	0.17465	0.022	B	0.08055	0.003	T	0.66799	-0.5832	10	0.34782	T	0.22	-9.089	1.3508	0.02172	0.1734:0.4604:0.1681:0.198	.	166	Q6PK04	CC137_HUMAN	V	166	ENSP00000329360:A166V	ENSP00000329360:A166V	A	+	2	0	0	CCDC137	77247888	77247888	0.999000	0.42202	0.998000	0.56505	0.896000	0.52359	0.270000	0.18607	1.103000	0.41568	0.655000	0.94253	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		24	24		113	109	1		1	1		0	0	25	0		9.999998e-01	9.999904e-01	0	13	0	82	0	24	113
HGS	9146	broad.mit.edu	37	17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	385	Interaction with SNX1. {ECO:0000250}.|Pro-rich.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCCCATTCCTCCCTCTGGT	0.637																																						ENST00000329138.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1153-1155)cCt>cAt		hepatocyte growth factor-regulated tyrosine kinase substrate							103.0	99.0	100.0					17																	79662228		2203	4300	6503	SO:0001583	missense	9146	0	0					g.chr17:79662228C>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1154C>A	chr17.hg19:g.79662228C>A	ENSP00000331201:p.Pro385His	0						p.P385H	NM_004712.4	NP_004703.1	1	2	3	2.013100	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)	14	1289	+	all_neural(118;0.0878)|all_lung(278;0.23)		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	1	1	hg19	c.1154C>A	CCDS11784.1	1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191329	0.21954	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38240	1.15	3.87	2.89	0.33648	3.87	2.89	0.33648	.	1.405290	0.04662	N	0.409156	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.25291	0.059	T	0.24835	-1.0149	10	0.49607	T	0.09	-0.052	2.7002	0.05146	0.191:0.5197:0.1848:0.1044	.	385	O14964	HGS_HUMAN	H	385	ENSP00000331201:P385H	ENSP00000331201:P385H	P	+	2	0	0	HGS	77272633	77272633	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	0.759000	0.26461	0.806000	0.34183	0.313000	0.20887	CCT	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.618153	1	0.170000	NM_004712			112	112		430	423	1		1	1		0	0	84	0		1	1	0	40	0	98	0	112	430
ALOX12B	242	broad.mit.edu	37	17	7976504	7976504	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	630	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)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627										Multiple Myeloma(8;0.094)																												ENST00000319144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1888-1890)Ctg>Ttg		arachidonate 12-lipoxygenase, 12R type							158.0	146.0	150.0					17																	7976504		2203	4300	6503	SO:0001819	synonymous_variant	242	0	0					g.chr17:7976504G>A	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.1888C>T	chr17.hg19:g.7976504G>A		0	Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_5'UTR	p.L630L	NM_001139.2	NP_001130.1	1	2	3	2.017774	O75342	LX12B_HUMAN		14	2148	-				Silent	SNP	ENST00000319144.4	1	1	hg19	c.1888C>T	CCDS11129.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	1		2	2	2	0		0	0	210		210	209	1	2.060000	-20.000000	1	0.170000				195	193		810	794	1		1	1		0	0	210	0		1	9.918865e-02	0	2	0	1	0	195	810
ALOX12B	242	broad.mit.edu	37	17	7978974	7978974	+	Silent	SNP	C	C	A	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	531	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)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582										Multiple Myeloma(8;0.094)																												ENST00000319144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1591-1593)ccG>ccT		arachidonate 12-lipoxygenase, 12R type							198.0	193.0	195.0					17																	7978974		2203	4300	6503	SO:0001819	synonymous_variant	242	0	0					g.chr17:7978974C>A	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.1593G>T	chr17.hg19:g.7978974C>A		0	Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_Intron	p.P531P	NM_001139.2	NP_001130.1	1	2	3	2.017774	O75342	LX12B_HUMAN		12	1853	-				Silent	SNP	ENST00000319144.4	1	1	hg19	c.1593G>T	CCDS11129.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	1		2	2	2	0		0	0	265		265	261	1	2.060000	-3.162371	1	0.170000				218	216		991	963	1		1			0	0	265	0		1	0	0	0	0	0	0	218	991
HGS	9146	broad.mit.edu	37	17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	703	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642																																						ENST00000329138.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(2107-2109)tCc>tTc		hepatocyte growth factor-regulated tyrosine kinase substrate							46.0	43.0	44.0					17																	79667816		2203	4300	6503	SO:0001583	missense	9146	0	0					g.chr17:79667816C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2108C>T	chr17.hg19:g.79667816C>T	ENSP00000331201:p.Ser703Phe	0					SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA	p.S703F	NM_004712.4	NP_004703.1	1	2	3	2.013100	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)	20	2243	+	all_neural(118;0.0878)|all_lung(278;0.23)		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	1	1	hg19	c.2108C>T	CCDS11784.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487308	0.84854	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39997	1.05	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.120001	0.34906	U	0.003594	T	0.33962	0.0881	N	0.19112	0.55	0.38773	D	0.95459	P	0.35923	0.528	B	0.39299	0.296	T	0.40117	-0.9580	10	0.51188	T	0.08	-22.7626	16.3251	0.82977	0.0:1.0:0.0:0.0	.	703	O14964	HGS_HUMAN	F	703;617	ENSP00000331201:S703F	ENSP00000331201:S703F	S	+	2	0	0	HGS	77278221	77278221	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.762000	0.55250	2.302000	0.77476	0.561000	0.74099	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-3.871617	1	0.170000	NM_004712			63	63		220	219	1		1	1		0	0	47	0		1	1	0	51	0	131	0	63	220
ALOX12B	242	broad.mit.edu	37	17	7984225	7984225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	168	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)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652										Multiple Myeloma(8;0.094)																												ENST00000319144.4	1.000000	0.430000	7.900000e-01	5.200000e-01	0.620000	0.663669	0.620000	0.600000																										0				16						c.(502-504)agG>agA		arachidonate 12-lipoxygenase, 12R type							73.0	72.0	72.0					17																	7984225		2203	4300	6503	SO:0001819	synonymous_variant	242	1	121412	32				g.chr17:7984225C>T	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.504G>A	chr17.hg19:g.7984225C>T		0	Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	p.R168R	NM_001139.2	NP_001130.1	1	2	3	2.017774	O75342	LX12B_HUMAN		4	764	-				Silent	SNP	ENST00000319144.4	1	1	hg19	c.504G>A	CCDS11129.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000				35	35		644	629	0		1	0		0	0	104	0		1	0	0	0	0	1	0	35	644
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000582520.1_5'Flank|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000581876.1_Intron	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642																																						ENST00000269321.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(358-360)cGa>cAa		Rho GDP dissociation inhibitor (GDI) alpha							69.0	67.0	68.0					17																	79827105		2203	4300	6503	SO:0001583	missense	396	0	0					g.chr17:79827105C>T	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.359G>A	chr17.hg19:g.79827105C>T	ENSP00000269321:p.Arg120Gln	0					ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576554.1_RNA|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q	p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	1	2	3	2.013100	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	5	494	-	all_neural(118;0.0878)|Ovarian(332;0.12)		A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	1	1	hg19	c.359G>A	CCDS11788.1	1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235195	0.39498	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	0.151	0.14888	4.45	0.151	0.14888	Immunoglobulin E-set (1);	0.288011	0.33161	N	0.005205	T	0.25938	0.0632	L	0.54323	1.7	0.26686	N	0.971459	B;B;P	0.43938	0.036;0.078;0.822	B;B;B	0.34138	0.064;0.094;0.176	T	0.19224	-1.0312	9	0.59425	D	0.04	-9.8482	8.7674	0.34711	0.0:0.5049:0.0:0.4951	.	120;120;120	A8MXW0;B4DUV9;P52565	.;.;GDIR1_HUMAN	Q	120	.	ENSP00000269321:R120Q	R	-	2	0	0	ARHGDIA	77420394	77420394	0.851000	0.29673	0.081000	0.20488	0.379000	0.30106	1.371000	0.34250	0.159000	0.19401	0.467000	0.42956	CGA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.601023	1	0.170000	NM_004309			64	64		260	253	1		1	1		0	0	69	0		1	1	0	289	0	787	0	64	260
PYCR1	5831	broad.mit.edu	37	17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000329875.8	-	4	540	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	159					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CACCTCCGTGCAGAAGCCCAC	0.697																																						ENST00000329875.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999858	0.990000	1.000000																										0				5						c.(475-477)tGc>tTc		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)						50.0	42.0	45.0					17																	79892866		2203	4299	6502	SO:0001583	missense	5831	0	0					g.chr17:79892866C>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.476G>T	chr17.hg19:g.79892866C>A	ENSP00000328858:p.Cys159Phe	0					PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F	p.C159F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	1	2	3	2.013100	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	4	540	-	all_neural(118;0.0878)|Ovarian(332;0.12)		A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	1	1	hg19	c.476G>T	CCDS11795.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360369	0.82353	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.13	4.13	0.48395	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.998;0.997;0.998;0.982;0.999	T	0.80412	-0.1393	10	0.87932	D	0	.	16.0278	0.80555	0.0:1.0:0.0:0.0	.	131;186;159;159;159;159;159	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	F	159;159;159;186;131	ENSP00000336579:C159F;ENSP00000328858:C159F;ENSP00000385483:C159F;ENSP00000384949:C186F	ENSP00000328858:C159F	C	-	2	0	0	PYCR1	77486157	77486157	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.594000	0.82698	1.866000	0.54105	0.555000	0.69702	TGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				33	32		206	204	1		1	1		0	0	46	0		1	1	0	165	0	278	0	33	206
RAC3	5881	broad.mit.edu	37	17	79990867	79990867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	90					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCTCCTTCGAGAATGTTC	0.617																																						ENST00000306897.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(268-270)ttC>ttT		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							76.0	83.0	81.0					17																	79990867		2203	4300	6503	SO:0001819	synonymous_variant	5881	9	121390	43				g.chr17:79990867C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.270C>T	chr17.hg19:g.79990867C>T		0						p.F90F	NM_005052.2	NP_005043.1	1	2	3	2.013100	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)	4	408	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	1	1	hg19	c.270C>T	CCDS11798.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-3.451116	1	0.170000				137	136		562	556	0		1	1		0	0	119	0		1	9.999999e-01	0	27	0	65	0	137	562
GPS1	2873	broad.mit.edu	37	17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000306823.6	+	4	436	c.413C>T	c.(412-414)gCg>gTg	p.A138V	GPS1_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.A174V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	138					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGAAGAAGGCGCTGCTGAAG	0.652																																						ENST00000306823.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(412-414)gCg>gTg		G protein pathway suppressor 1							32.0	27.0	29.0					17																	80012478		2194	4294	6488	SO:0001583	missense	2873	1	120922	31				g.chr17:80012478C>T		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.413C>T	chr17.hg19:g.80012478C>T	ENSP00000302873:p.Ala138Val	0					GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V	p.A138V			1	2	3	2.013100	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)	4	436	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	1	1	hg19	c.413C>T	CCDS32774.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830480	0.50845	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;0.993;1.0;1.0	P;D;D;P;D;D	0.74348	0.74;0.983;0.981;0.622;0.982;0.97	T	0.70641	-0.4816	9	0.26408	T	0.33	-27.5226	15.9283	0.79639	0.0:1.0:0.0:0.0	.	130;174;123;134;138;174	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	V	174;124;138;174;59	.	ENSP00000302873:A138V	A	+	2	0	0	GPS1	77605767	77605767	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	GCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_212492			26	26		91	90	1		1	1		0	0	20	0		1	1	0	59	0	174	0	26	91
DUS1L	64118	broad.mit.edu	37	17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	185							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCACCCGACAGGGGCCCCTTC	0.657																																						ENST00000354321.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(553-555)Ctg>Atg		dihydrouridine synthase 1-like (S. cerevisiae)							114.0	104.0	108.0					17																	80019817		2203	4300	6503	SO:0001583	missense	64118	0	0					g.chr17:80019817G>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.553C>A	chr17.hg19:g.80019817G>T	ENSP00000346280:p.Leu185Met	0					DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M	p.L185M			1	2	3	2.013100	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)	5	1038	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	1	1	hg19	c.553C>A	CCDS32775.1	1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072704	0.20147	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29655	1.56;1.56;1.56	4.08	-1.31	0.09230	4.08	-1.31	0.09230	Aldolase-type TIM barrel (1);	0.288040	0.33650	N	0.004681	T	0.26629	0.0651	M	0.65498	2.005	0.38905	D	0.957412	B;B;B	0.28760	0.058;0.005;0.221	B;B;B	0.33846	0.171;0.09;0.152	T	0.03739	-1.1008	10	0.34782	T	0.22	-10.5432	4.7951	0.13269	0.2839:0.0:0.5745:0.1416	.	58;185;54	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	185;185;58;53	ENSP00000346280:L185M;ENSP00000303515:L185M;ENSP00000445110:L53M	ENSP00000303515:L185M	L	-	1	2	2	DUS1L	77613106	77613106	0.953000	0.32496	0.350000	0.25708	0.706000	0.40770	1.464000	0.35288	-0.360000	0.08138	0.551000	0.68910	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-2.920855	1	0.170000	NM_022156			88	87		574	559	1		1	1		0	0	145	0		1	1	0	98	0	157	0	88	574
DUS1L	64118	broad.mit.edu	37	17	80021381	80021381	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	120							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGCAGAAAGGCGCCATAGT	0.602																																						ENST00000354321.7	1.000000	0.770000	1	8.700000e-01	0.990000	0.953227	0.990000	1.000000																										0				6						c.(358-360)gcC>gcA		dihydrouridine synthase 1-like (S. cerevisiae)							178.0	153.0	161.0					17																	80021381		2203	4300	6503	SO:0001819	synonymous_variant	64118	0	0					g.chr17:80021381G>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.360C>A	chr17.hg19:g.80021381G>T		0					DUS1L_ENST00000306796.5_Silent_p.A120A	p.A120A			1	2	3	2.013100	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)	3	845	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	1	1	hg19	c.360C>A	CCDS32775.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	1	0	1		2	2	2	0		0	0	173		173	171	1	2.060000	-16.685660	1	0.170000	NM_022156			72	67		800	795	0		1	1		0	0	173	0		1	1	0	45	0	222	0	72	800
FASN	2194	broad.mit.edu	37	17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2413	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTCCTGGCGGTCCAGGCCC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(7237-7239)Cgc>Tgc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						67.0	58.0	61.0					17																	80037394		2203	4298	6501	SO:0001583	missense	2194	1	121182	28				g.chr17:80037394G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7237C>T	chr17.hg19:g.80037394G>A	ENSP00000304592:p.Arg2413Cys	0					FASN_ENST00000579758.1_5'UTR	p.R2413C	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	42	7455	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	1	1	hg19	c.7237C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484493	0.63962	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.16	2.13	0.27403	4.16	2.13	0.27403	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.618907	0.15836	N	0.242275	T	0.48059	0.1479	M	0.70842	2.15	0.47994	D	0.999565	D	0.76494	0.999	P	0.61477	0.889	T	0.46442	-0.9191	10	0.66056	D	0.02	-12.1525	10.2149	0.43162	0.166:0.0:0.834:0.0	.	2413	P49327	FAS_HUMAN	C	2413	ENSP00000304592:R2413C	ENSP00000304592:R2413C	R	-	1	0	0	FASN	77630683	77630683	1.000000	0.71417	0.410000	0.26471	0.899000	0.52679	4.264000	0.58859	0.500000	0.27991	0.561000	0.74099	CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-3.071999	1	0.170000	NM_004104			86	87		369	364	1		1	1		0	0	56	0		1	1	0	70	0	153	0	86	369
FASN	2194	broad.mit.edu	37	17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2233	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GAGTTGAGCCGCATCAGGGTG	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999240	0.990000	1.000000																										0				34						c.(6697-6699)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						28.0	33.0	31.0					17																	80038697		2197	4293	6490	SO:0001583	missense	2194	1	120452	23				g.chr17:80038697G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6697C>T	chr17.hg19:g.80038697G>A	ENSP00000304592:p.Arg2233Trp	0					FASN_ENST00000579758.1_Intron	p.R2233W	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	39	6915	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	1	1	hg19	c.6697C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798163	0.50208	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.8	2.71	0.32032	4.8	2.71	0.32032	.	0.483859	0.20406	N	0.092959	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.52343	0.696	T	0.12192	-1.0557	10	0.72032	D	0.01	-30.9607	11.7206	0.51680	0.0:0.0:0.5351:0.4649	.	2233	P49327	FAS_HUMAN	W	2233	ENSP00000304592:R2233W	ENSP00000304592:R2233W	R	-	1	2	2	FASN	77631986	77631986	0.160000	0.22878	0.011000	0.14972	0.381000	0.30169	2.858000	0.48356	0.565000	0.29255	0.591000	0.81541	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_004104			15	16		76	76	1		1	1		0	0	20	0		9.999270e-01	9.999992e-01	0	41	0	110	0	15	76
FASN	2194	broad.mit.edu	37	17	80039046	80039046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039046C>T	ENST00000306749.2	-	38	6807	c.6589G>A	c.(6589-6591)Gcc>Acc	p.A2197T	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2197					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCACCGCTGGCCTCATCCGCC	0.687																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.992063	0.990000	1.000000																										0				34						c.(6589-6591)Gcc>Acc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						18.0	17.0	18.0					17																	80039046		2188	4282	6470	SO:0001583	missense	2194	0	0					g.chr17:80039046C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6589G>A	chr17.hg19:g.80039046C>T	ENSP00000304592:p.Ala2197Thr	0					FASN_ENST00000579758.1_Intron	p.A2197T	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	38	6807	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	0	0	hg19	c.6589G>A	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874287	0.17395	.	.	ENSG00000169710	ENST00000306749	T	0.26518	1.73	4.21	0.496	0.16896	4.21	0.496	0.16896	Acyl carrier protein-like (1);	0.878830	0.09949	N	0.734967	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.33879	-0.9851	10	0.23891	T	0.37	-6.7644	3.1731	0.06559	0.3071:0.453:0.1513:0.0886	.	2197	P49327	FAS_HUMAN	T	2197	ENSP00000304592:A2197T	ENSP00000304592:A2197T	A	-	1	0	0	FASN	77632335	77632335	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	0.079000	0.14782	0.282000	0.22254	0.313000	0.20887	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-16.069830	1	0.170000	NM_004104			8	8		43	43	1		1	1		0	0	10	0		9.913759e-01	9.999259e-01	0	52	0	73	0	8	43
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000306749.2	-	36	6374	c.6156C>T	c.(6154-6156)ggC>ggT	p.G2052G	FASN_ENST00000579758.1_Splice_Site	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2052	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCTGGGAGGCCTTCGTGCC	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(6154-6156)ggC>ggT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						50.0	52.0	51.0					17																	80039892		2203	4298	6501	SO:0001819	synonymous_variant	2194	0	0					g.chr17:80039892G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6156C>T	chr17.hg19:g.80039892G>A		0					FASN_ENST00000579758.1_Splice_Site	p.G2052G	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	36	6374	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	1	1	hg19	c.6156C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562789	0.45694	.	.	ENSG00000169710	ENST00000545909	.	.	.	4.77	4.77	0.60923	4.77	4.77	0.60923	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69669	-0.5083	5	0.87932	D	0	-30.5223	9.672	0.40017	0.0:0.1316:0.6472:0.2212	.	.	.	.	V	813	.	ENSP00000438053:A813V	A	-	2	0	0	FASN	77633181	77633181	0.998000	0.40836	1.000000	0.80357	0.642000	0.38348	0.189000	0.17037	2.187000	0.69744	0.313000	0.20887	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	0	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_004104			48	46		189	183	0		1	1		0	0	41	0		1	1	0	37	0	99	0	48	189
FASN	2194	broad.mit.edu	37	17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2049	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTTCGTGCCGGCGTTTCTCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(6145-6147)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						63.0	64.0	63.0					17																	80039903		2203	4300	6503	SO:0001583	missense	2194	3	121144	36				g.chr17:80039903G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6145C>T	chr17.hg19:g.80039903G>A	ENSP00000304592:p.Arg2049Trp	0					FASN_ENST00000579758.1_5'UTR	p.R2049W	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	36	6363	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	1	1	hg19	c.6145C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759417	0.49468	.	.	ENSG00000169710	ENST00000306749	T	0.48522	0.81	4.77	-0.811	0.10857	4.77	-0.811	0.10857	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.332110	0.26642	N	0.023248	T	0.69913	0.3164	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.69548	-0.5116	10	0.59425	D	0.04	-29.0112	15.7178	0.77681	0.0:0.0:0.4513:0.5487	.	2049	P49327	FAS_HUMAN	W	2049	ENSP00000304592:R2049W	ENSP00000304592:R2049W	R	-	1	2	2	FASN	77633192	77633192	0.011000	0.17503	0.515000	0.27774	0.624000	0.37722	1.416000	0.34759	0.039000	0.15632	0.313000	0.20887	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_004104			57	55		218	211	0		1	1		0	0	47	0		1	1	0	30	0	88	0	57	218
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A	rs567629999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1549					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGCAGCGAGGAGCAGACCCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.740000	1	9.900000e-01	0.990000	0.981859	0.990000	1.000000																										0				34						c.(4645-4647)tCc>tTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						35.0	34.0	34.0					17																	80042511		2185	4292	6477	SO:0001583	missense	2194	0	0					g.chr17:80042511G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4646C>T	chr17.hg19:g.80042511G>A	ENSP00000304592:p.Ser1549Phe	0					FASN_ENST00000579758.1_5'Flank	p.S1549F	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	27	4864	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	0	1	hg19	c.4646C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249919	0.80024	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29142	1.58	4.35	4.35	0.52113	4.35	4.35	0.52113	Polyketide synthase, enoylreductase (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61431	-0.7064	10	0.87932	D	0	-28.1803	16.8449	0.85978	0.0:0.0:1.0:0.0	.	1549	P49327	FAS_HUMAN	F	1549;514	ENSP00000304592:S1549F	ENSP00000304592:S1549F	S	-	2	0	0	FASN	77635800	77635800	1.000000	0.71417	0.913000	0.36048	0.779000	0.44077	9.112000	0.94314	1.964000	0.57103	0.313000	0.20887	TCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-15.111670	1	0.170000	NM_004104			8	8		54	53	1		1	1		0	0	13	0		9.903692e-01	9.999872e-01	0	24	0	177	0	8	54
FASN	2194	broad.mit.edu	37	17	80045103	80045103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	ENST00000306749.2	-	21	3468	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1084					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTGACCCTCAGCCACCTGCTC	0.687																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999395	0.990000	1.000000																										0				34						c.(3250-3252)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						17.0	18.0	18.0					17																	80045103		2185	4281	6466	SO:0001583	missense	2194	0	0					g.chr17:80045103G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3250C>A	chr17.hg19:g.80045103G>T	ENSP00000304592:p.Leu1084Met	0						p.L1084M	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	21	3468	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	0	1	hg19	c.3250C>A	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733574	0.48939	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27890	1.64	3.19	2.09	0.27110	3.19	2.09	0.27110	.	0.083165	0.47093	D	0.000253	T	0.44746	0.1308	M	0.80183	2.485	0.42971	D	0.994435	D	0.56287	0.975	P	0.56163	0.793	T	0.44483	-0.9325	10	0.45353	T	0.12	-11.5452	7.486	0.27432	0.2453:0.0:0.7547:0.0	.	1084	P49327	FAS_HUMAN	M	1084;49	ENSP00000304592:L1084M	ENSP00000304592:L1084M	L	-	1	2	2	FASN	77638392	77638392	0.882000	0.30256	0.025000	0.17156	0.005000	0.04900	1.371000	0.34250	1.628000	0.50416	0.491000	0.48974	CTG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_004104			14	13		65	65	0		1	1		0	0	13	0		9.998343e-01	9.999843e-01	0	23	0	82	0	14	65
FASN	2194	broad.mit.edu	37	17	80045873	80045873	+	Silent	SNP	G	G	A	rs539431759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	941					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGAAGGCACGGGAGGCCTCCA	0.687													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14662	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2821-2823)tcC>tcT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						52.0	51.0	52.0					17																	80045873		2200	4298	6498	SO:0001819	synonymous_variant	2194	2	121076	35				g.chr17:80045873G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2823C>T	chr17.hg19:g.80045873G>A		0						p.S941S	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	18	3041	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	1	1	hg19	c.2823C>T	CCDS11801.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_004104			117	116		404	396	1		1	1		0	0	79	0		1	1	0	38	0	54	0	117	404
FASN	2194	broad.mit.edu	37	17	80047259	80047259	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	656	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AAACACCGGGGCCTGGACATC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1966-1968)gCc>gTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						47.0	49.0	48.0					17																	80047259		2202	4298	6500	SO:0001630	splice_region_variant	2194	0	0					g.chr17:80047259G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1966-1C>T	chr17.hg19:g.80047259G>A		0						p.A656V	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	13	2185	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	1	0	hg19	c.1967C>T	CCDS11801.1	1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442750	0.43326	.	.	ENSG00000169710	ENST00000306749	T	0.46063	0.88	3.61	2.62	0.31277	3.61	2.62	0.31277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.134441	0.48286	D	0.000182	T	0.40956	0.1138	M	0.71206	2.165	0.33081	D	0.536584	P	0.49559	0.925	P	0.45037	0.467	T	0.53422	-0.8441	10	0.31617	T	0.26	-17.289	7.0309	0.24967	0.0:0.1538:0.5935:0.2526	.	656	P49327	FAS_HUMAN	V	656	ENSP00000304592:A656V	ENSP00000304592:A656V	A	-	2	0	0	FASN	77640548	77640548	0.874000	0.30092	0.302000	0.25058	0.007000	0.05969	1.180000	0.32005	0.812000	0.34326	-0.467000	0.05162	GCC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_004104	Missense_Mutation		74	72		305	300	1		1	1		0	0	55	0		1	9.999995e-01	0	23	0	67	0	74	305
FASN	2194	broad.mit.edu	37	17	80050687	80050687	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	260	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGAAGGTCACGCCTGCGGAGG	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				34						c.(778-780)ggC>ggT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)						26.0	28.0	27.0					17																	80050687		2175	4279	6454	SO:0001630	splice_region_variant	2194	15	119770	41				g.chr17:80050687G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.779-1C>T	chr17.hg19:g.80050687G>A		0						p.G260G	NM_004104.4	NP_004095.4	1	2	3	2.013100	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	7	998	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	1	0	hg19	c.780C>T	CCDS11801.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_004104	Silent		17	17		52	49	0		1	1		0	0	13	0		9.999790e-01	9.999998e-01	0	28	0	75	0	17	52
CCDC57	284001	broad.mit.edu	37	17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000389641.4	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	104										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCTAGCGCCTGCCTCAGCTTA	0.662																																						ENST00000389641.4	1.000000	0.770000	1	9.400000e-01	0.990000	0.974962	0.990000	1.000000																										0				16						c.(310-312)Cag>Tag		coiled-coil domain containing 57							29.0	34.0	32.0					17																	80159511		2162	4265	6427	SO:0001587	stop_gained	284001	0	0					g.chr17:80159511G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.310C>T	chr17.hg19:g.80159511G>A	ENSP00000374292:p.Gln104*	0					CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*	p.Q104*			1	2	3	2.013100	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)	2	346	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	0	1	hg19	c.310C>T		1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843251	0.71488	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.313756	0.30311	N	0.009909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.3715	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000374292:Q104X	Q	-	1	0	0	CCDC57	77752800	77752800	0.820000	0.29190	0.850000	0.33497	0.182000	0.23217	2.169000	0.42434	2.563000	0.86464	0.650000	0.86243	CAG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_198082			28	26		269	266	0		1	0		0	0	60	0		1	2.899947e-01	0	1	0	10	0	28	269
CCDC57	284001	broad.mit.edu	37	17	80159556	80159556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000389641.4	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W|CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	89										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACCTCTGCCCGCCTGGCCTCT	0.642																																						ENST00000389641.4	1.000000	0.780000	1	9.200000e-01	0.990000	0.972337	0.990000	1.000000																										0				16						c.(265-267)Cgg>Tgg		coiled-coil domain containing 57							43.0	50.0	48.0					17																	80159556		2155	4251	6406	SO:0001583	missense	284001	8	121198	42				g.chr17:80159556G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.265C>T	chr17.hg19:g.80159556G>A	ENSP00000374292:p.Arg89Trp	0					CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W|CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W	p.R89W			1	2	3	2.013100	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)	2	301	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	0	1	hg19	c.265C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172445	0.57584	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24350	3.03;3.03;1.86	5.48	3.22	0.36961	5.48	3.22	0.36961	.	0.236359	0.36167	N	0.002743	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56612	0.627;0.802	T	0.07233	-1.0783	10	0.87932	D	0	-26.0033	11.2565	0.49056	0.0:0.1293:0.7225:0.1483	.	89;89	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	W	89	ENSP00000374292:R89W;ENSP00000376158:R89W;ENSP00000376154:R89W	ENSP00000374292:R89W	R	-	1	2	2	CCDC57	77752845	77752845	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	3.666000	0.54540	1.262000	0.44165	0.650000	0.86243	CGG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	0	0	0		19	3	2	1		1	1	68		68	66	1	2.060000	-3.142702	1	0.170000	NM_198082			36	35		360	354	0		1	1		1	0	68	0		9.929968e-01	3.091437e-01	0	3	0	18	0	36	360
CCDC57	284001	broad.mit.edu	37	17	80159683	80159683	+	Silent	SNP	C	C	T	rs376303728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000389641.4	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392347.1_Silent_p.A46A|CCDC57_ENST00000392343.3_Silent_p.A46A			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	46										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTTCCCCTGCGCCTCCTCCA	0.667																																						ENST00000389641.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(136-138)gcG>gcA		coiled-coil domain containing 57		C		0,4280		0,0,2140	41.0	48.0	46.0		138	-9.9	0.1	17		46	1,8489		0,1,4244	no	coding-synonymous	CCDC57	NM_198082.2		0,1,6384	TT,TC,CC		0.0118,0.0,0.0078		46/916	80159683	1,12769	2140	4245	6385	SO:0001819	synonymous_variant	284001	5	121120	40				g.chr17:80159683C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.138G>A	chr17.hg19:g.80159683C>T		0					CCDC57_ENST00000392343.3_Silent_p.A46A|CCDC57_ENST00000392347.1_Silent_p.A46A	p.A46A			1	2	3	2.013100	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)	2	174	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	1	1	hg19	c.138G>A		1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	0	0	1		20	2	2	1		1	1	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_198082			88	88		338	336	1		1	1		1	0	71	0		1	8.915550e-01	0	6	0	11	0	88	338
CSNK1D	1453	broad.mit.edu	37	17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	414					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)			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)			TCTCATCGGTGCACGACAGAC	0.567											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314028.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1240-1242)Cac>Tac		casein kinase 1, delta							118.0	87.0	97.0					17																	80202665		2203	4300	6503	SO:0001583	missense	1453	0	0					g.chr17:80202665G>A		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.1240C>T	chr17.hg19:g.80202665G>A	ENSP00000324464:p.His414Tyr	0		OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1196	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	p.H414Y	NM_001893.4	NP_001884.2	1	2	3	2.013100	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)	9	1589	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	1	1	hg19	c.1240C>T	CCDS11805.1	1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208789	0.58343	.	.	ENSG00000141551	ENST00000314028;ENST00000398519	T	0.61158	0.13	5.51	4.48	0.54585	5.51	4.48	0.54585	.	0.473238	0.23896	N	0.043484	T	0.32615	0.0835	N	0.08118	0	0.80722	D	1	B	0.21821	0.061	B	0.15484	0.013	T	0.23084	-1.0198	10	0.02654	T	1	.	14.9006	0.70675	0.0:0.1436:0.8564:0.0	.	414	P48730	KC1D_HUMAN	Y	414;357	ENSP00000324464:H414Y	ENSP00000324464:H414Y	H	-	1	0	0	CSNK1D	77795954	77795954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.605000	0.88082	0.655000	0.94253	CAC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_139062			67	64		262	260	1		1	1		0	0	51	0		1	1	0	121	0	356	0	67	262
CD7	924	broad.mit.edu	37	17	80274664	80274664	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000312648.3	-	2	382	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Silent_p.G92G	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	92	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCTGGGACCCTGAGAAGT	0.622																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000312648.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(274-276)ggG>ggT		CD7 molecule							127.0	115.0	119.0					17																	80274664		2203	4300	6503	SO:0001819	synonymous_variant	924	0	0					g.chr17:80274664C>A	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.276G>T	chr17.hg19:g.80274664C>A		0					CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Silent_p.G92G|CD7_ENST00000583376.1_5'UTR	p.G92G	NM_006137.6	NP_006128.1	1	2	3	2.013100	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)	2	382	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)			Silent	SNP	ENST00000312648.3	1	0	hg19	c.276G>T	CCDS11807.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	0	0	1		2	2	2	0		0	0	174		174	172	1	2.060000	-20.000000	1	0.170000	NM_006137			148	149		692	686	1		1	1		0	0	174	0		1	1	0	2	0	132	0	148	692
SECTM1	6398	broad.mit.edu	37	17	80282651	80282651	+	Silent	SNP	G	G	A	rs202089016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80282651G>A	ENST00000269389.3	-	3	560	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SECTM1_ENST00000580437.1_Silent_p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	70					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCTGCCCGTGGGCACGCAGCT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15705	0.0		0.0	False		,,,				2504	0.0					ENST00000269389.3	1.000000	0.140000	5.500000e-01	2.200000e-01	0.340000	0.411497	0.340000	0.310000																										0				4						c.(208-210)gcC>gcT		secreted and transmembrane 1							130.0	88.0	102.0					17																	80282651		2203	4300	6503	SO:0001819	synonymous_variant	6398	3	121412	39				g.chr17:80282651G>A	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.210C>T	chr17.hg19:g.80282651G>A		0					SECTM1_ENST00000580437.1_Silent_p.A70A	p.A70A	NM_003004.2	NP_002995.1	1	2	3	2.013100	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)	3	560	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		B2R7H0|O00466	Silent	SNP	ENST00000269389.3	0	1	hg19	c.210C>T	CCDS11808.1	0																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	0	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-7.498957	1	0.170000	NM_003004			6	6		222	216	0		1	1		0	0	46	0		9.625944e-01	8.933599e-01	0	8	0	143	0	6	222
UTS2R	2837	broad.mit.edu	37	17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	rs200671433		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	143					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14779	0.0		0.0	False		,,,				2504	0.0					ENST00000313135.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(427-429)Gtc>Atc		urotensin 2 receptor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	38.0	31.0	33.0		427	1.6	0.4	17	dbSNP_132	33	0,8598		0,0,4299	no	missense	UTS2R	NM_018949.1	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	143/390	80332627	1,13003	2203	4299	6502	SO:0001583	missense	2837	3	121204	34				g.chr17:80332627G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.427G>A	chr17.hg19:g.80332627G>A	ENSP00000323516:p.Val143Ile	0						p.V143I	NM_018949.1	NP_061822.1	1	2	3	2.013100	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)	1	475	+	Breast(20;0.00106)|all_neural(118;0.0804)		B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	1	1	hg19	c.427G>A	CCDS11810.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.07	1.826543	0.32329	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.39997	1.05	4.88	1.65	0.23941	4.88	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.411084	0.25117	N	0.033019	T	0.30039	0.0752	L	0.41573	1.285	0.31819	N	0.626224	B	0.21520	0.057	B	0.20767	0.031	T	0.24977	-1.0145	10	0.27785	T	0.31	.	8.8159	0.34996	0.0819:0.3003:0.6178:0.0	.	143	Q9UKP6	UR2R_HUMAN	I	143	ENSP00000323516:V143I	ENSP00000323516:V143I	V	+	1	0	0	UTS2R	77925916	77925916	0.479000	0.25925	0.444000	0.26895	0.983000	0.72400	0.913000	0.28611	0.158000	0.19367	0.551000	0.68910	GTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_018949			39	37		118	116	1		1			0	0	24	0		1	0	0	0	0	0	0	39	118
HEXDC	284004	broad.mit.edu	37	17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000327949.9	+	4	423	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000337014.6_Missense_Mutation_p.P138S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	138					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627																																						ENST00000327949.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(412-414)Cca>Tca		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							31.0	35.0	33.0					17																	80391663		1942	4134	6076	SO:0001583	missense	284004	0	0					g.chr17:80391663C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.412C>T	chr17.hg19:g.80391663C>T	ENSP00000332634:p.Pro138Ser	0					HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000337014.6_Missense_Mutation_p.P138S	p.P138S			1	2	3	2.013100	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)	4	423	+	Breast(20;0.00106)|all_neural(118;0.0804)		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	1	1	hg19	c.412C>T		1	.	.	.	.	.	.	.	.	.	.	C	5.128	0.209217	0.09757	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91577	-2.87;-2.87	5.3	-1.34	0.09143	5.3	-1.34	0.09143	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.737833	0.12882	N	0.431343	D	0.87462	0.6183	M	0.66297	2.02	0.24115	N	0.995827	B;B	0.32283	0.362;0.34	B;B	0.33846	0.16;0.171	T	0.77983	-0.2382	10	0.45353	T	0.12	-3.3651	9.2246	0.37398	0.363:0.397:0.24:0.0	.	138;138	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	S	138	ENSP00000337854:P138S;ENSP00000332634:P138S	ENSP00000332634:P138S	P	+	1	0	0	HEXDC	77984952	77984952	0.000000	0.05858	0.058000	0.19502	0.145000	0.21501	-0.086000	0.11233	-0.097000	0.12307	0.563000	0.77884	CCA	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_173620			48	47		267	262	1		1	1		0	0	63	0		1	9.990885e-01	0	20	0	41	0	48	267
PER1	5187	broad.mit.edu	37	17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R406H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	426	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000				Dom	yes			Dom	yes		17	17p13.1-17p12	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)				L	L	ETV6		AML, CMML		0				47						c.(1276-1278)cGc>cAc	Other conserved DNA damage response genes	period circadian clock 1							37.0	37.0	37.0					17																	8051103		2202	4300	6502	SO:0001583	missense	5187	0	0					g.chr17:8051103C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1277G>A	chr17.hg19:g.8051103C>T	ENSP00000314420:p.Arg426His	0					PER1_ENST00000581082.1_Missense_Mutation_p.R406H|PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000578089.1_5'Flank	p.R426H	NM_002616.2	NP_002607.2	1	2	3	2.017774	O15534	PER1_HUMAN		11	1514	-			B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	1	1	hg19	c.1277G>A	CCDS11131.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909148	0.92107	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.43688	0.94;0.94	4.73	4.73	0.59995	4.73	4.73	0.59995	PAS fold-3 (1);	0.051652	0.64402	D	0.000001	T	0.76579	0.4007	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85115	0.0965	10	0.87932	D	0	-19.2658	15.5824	0.76455	0.0:1.0:0.0:0.0	.	410;426	B4DI49;O15534	.;PER1_HUMAN	H	426;410	ENSP00000314420:R426H;ENSP00000346979:R410H	ENSP00000314420:R426H	R	-	2	0	0	PER1	7991828	7991828	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	7.544000	0.82117	2.619000	0.88677	0.462000	0.41574	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000				32	32		178	173	1		1	1		0	0	44	0		1	1	0	45	0	248	0	32	178
PER1	5187	broad.mit.edu	37	17	8053110	8053110	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8053110A>G	ENST00000317276.4	-	5	851	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PER1_ENST00000354903.5_Missense_Mutation_p.L189P|PER1_ENST00000581082.1_Missense_Mutation_p.L205P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	205					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGTGCTCCAGCTCCTCCAG	0.597			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4	1.000000	0.090000	2.400000e-01	1.300000e-01	0.170000	0.260121	0.170000	0.170000				Dom	yes			Dom	yes		17	17p13.1-17p12	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)				L	L	ETV6		AML, CMML		0				47						c.(613-615)cTg>cCg	Other conserved DNA damage response genes	period circadian clock 1							207.0	198.0	201.0					17																	8053110		2203	4300	6503	SO:0001583	missense	5187	0	0					g.chr17:8053110A>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.614T>C	chr17.hg19:g.8053110A>G	ENSP00000314420:p.Leu205Pro	0					PER1_ENST00000581082.1_Missense_Mutation_p.L205P|PER1_ENST00000354903.5_Missense_Mutation_p.L189P	p.L205P	NM_002616.2	NP_002607.2	1	2	3	2.017774	O15534	PER1_HUMAN		5	851	-			B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	0	1	hg19	c.614T>C	CCDS11131.1	0	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204185	0.79127	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.54279	1.98;0.58	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.074797	0.56097	D	0.000038	T	0.69088	0.3072	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.78314	0.974;0.987;0.991	T	0.72398	-0.4306	10	0.87932	D	0	-11.0552	13.6552	0.62333	1.0:0.0:0.0:0.0	.	205;189;205	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	P	205;189	ENSP00000314420:L205P;ENSP00000346979:L189P	ENSP00000314420:L205P	L	-	2	0	0	PER1	7993835	7993835	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.983000	0.93477	2.118000	0.64928	0.460000	0.39030	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2	0	0	0		2	2	2	0		0	0	195		195	194	1	2.060000	-3.318851	1	0.170000				18	18		1274	1251	0		1	1		0	0	195	0		9.999777e-01	8.062343e-01	0	6	0	210	0	18	1274
C17orf62	79415	broad.mit.edu	37	17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000437807.2	-	7	757	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTTACCTGCGGTGGCCCAT	0.632																																						ENST00000437807.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(439-441)cGc>cAc		chromosome 17 open reading frame 62		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88.0	76.0	80.0		440,440,398,440,440,440,440	4.8	1.0	17	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	29,29,29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/188,147/188,133/174,147/188,147/188,147/188,147/188	80402326	3,13003	2203	4300	6503	SO:0001583	missense	79415	8	121404	40				g.chr17:80402326C>T	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.440G>A	chr17.hg19:g.80402326C>T	ENSP00000388909:p.Arg147His	0					C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H	p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	1	2	3	2.013100	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)	7	757	-	Breast(20;0.00106)|all_neural(118;0.0804)		E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	1	1	hg19	c.440G>A	CCDS32776.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834230|3.834230	0.71373|0.71373	0.0|0.0	3.49E-4|3.49E-4	ENSG00000178927|ENSG00000178927	ENST00000342572|ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|.	.|.	.|.	.|.	T|T	0.77525|0.77525	0.4143|0.4143	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	.|0.87578	.|0.933;0.998	T|T	0.78548|0.78548	-0.2162|-0.2162	6|8	0.87932|0.48119	D|T	0|0.1	.|.	16.9278|16.9278	0.86181|0.86181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;147	.|E1B6X3;Q9BQA9	.|.;CQ062_HUMAN	T|H	37|4;147;147;133	.|.	ENSP00000342228:A37T|ENSP00000307765:R147H	A|R	-|-	1|2	0|0	0|0	C17orf62|C17orf62	77995615|77995615	77995615|77995615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.681000|0.681000	0.39784|0.39784	2.764000|2.764000	0.47613|0.47613	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	GCA|CGC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_001033046			54	53		278	275	1		1	1		0	0	56	0		1	1	0	42	0	166	0	54	278
ZNF750	79755	broad.mit.edu	37	17	80788752	80788752	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81I|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	480					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)			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)			ACAACATTGAGGCTAGAAGAA	0.572																																						ENST00000269394.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1438-1440)Ctc>Atc		zinc finger protein 750							27.0	32.0	30.0					17																	80788752		2130	4188	6318	SO:0001630	splice_region_variant	79755	0	0					g.chr17:80788752G>T	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.1437-1C>A	chr17.hg19:g.80788752G>T		0					TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81I|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	p.L480I	NM_024702.2	NP_078978.2	1	2	3	2.013100	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)	3	2271	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	Q9H899	Splice_Site	SNP	ENST00000269394.3	1	0	hg19	c.1438C>A	CCDS11819.1	1	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258545	0.10239	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14266	2.52	4.75	3.71	0.42584	4.75	3.71	0.42584	.	0.226724	0.30528	N	0.009436	T	0.09512	0.0234	L	0.41079	1.255	0.28812	N	0.898152	B	0.26602	0.154	B	0.23716	0.048	T	0.09596	-1.0667	9	.	.	.	-20.9973	5.1242	0.14876	0.1122:0.0:0.5721:0.3158	.	480	Q32MQ0	ZN750_HUMAN	I	480;81	ENSP00000269394:L480I	.	L	-	1	0	0	ZNF750	78382041	78382041	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	1.466000	0.35310	2.197000	0.70478	0.655000	0.94253	CTC	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-4.110920	1	0.170000	NM_024702	Missense_Mutation		79	78		280	276	1		1	0		0	0	76	0		1	2.155685e-01	0	0	0	4	0	79	280
ZNF750	79755	broad.mit.edu	37	17	80790046	80790046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	95					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)			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)			CGAAGGCAGAGAGTCCATTTG	0.567																																						ENST00000269394.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(283-285)ctC>ctA		zinc finger protein 750							111.0	95.0	100.0					17																	80790046		2203	4300	6503	SO:0001819	synonymous_variant	79755	0	0					g.chr17:80790046G>T	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.285C>A	chr17.hg19:g.80790046G>T		0					TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	p.L95L	NM_024702.2	NP_078978.2	1	2	3	2.013100	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)	2	1118	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	Q9H899	Silent	SNP	ENST00000269394.3	1	1	hg19	c.285C>A	CCDS11819.1	1																																																																																								1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_024702			89	87		372	361	1		1	0		0	0	81	0		1	0	0	0	0	1	0	89	372
TIMM22	29928	broad.mit.edu	37	17	902750	902750	+	Splice_Site	SNP	A	A	G	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502																																						ENST00000327158.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.e3-1		translocase of inner mitochondrial membrane 22 homolog (yeast)		A		1,4405	2.1+/-5.4	0,1,2202	270.0	233.0	245.0			5.7	1.0	17	dbSNP_134	245	0,8600		0,0,4300	no	splice-3	TIMM22	NM_013337.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077			902750	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29928	1	121412	33				g.chr17:902750A>G	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.436-1A>G	chr17.hg19:g.902750A>G		0							NM_013337.2	NP_037469.2	1	2	3	2.017774	Q9Y584	TIM22_HUMAN		3	461	+			Q9NWI8	Splice_Site	SNP	ENST00000327158.4	1	1	hg19		CCDS32521.1	1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025922	0.54683	2.27E-4	0.0	ENSG00000177370	ENST00000327158	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0767	0.72082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TIMM22	849500	849500	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.864000	0.92294	2.150000	0.67090	0.533000	0.62120	.	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_013337	Intron		102	102		493	478	1		1	1		0	0	145	0		1	6.365792e-01	0	11	0	1	0	102	493
ABR	29	broad.mit.edu	37	17	994935	994935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000302538.5	-	4	647	c.501G>T	c.(499-501)caG>caT	p.Q167H	ABR_ENST00000574437.1_Missense_Mutation_p.Q121H|ABR_ENST00000544583.2_Missense_Mutation_p.Q121H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000302538.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(499-501)caG>caT		active BCR-related							134.0	116.0	122.0					17																	994935		2203	4300	6503	SO:0001583	missense	29	0	0					g.chr17:994935C>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.501G>T	chr17.hg19:g.994935C>A	ENSP00000303909:p.Gln167His	0					ABR_ENST00000574437.1_Missense_Mutation_p.Q121H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000544583.2_Missense_Mutation_p.Q121H	p.Q167H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	1	2	3	2.017774	Q12979	ABR_HUMAN		4	647	-			B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	1	1	hg19	c.501G>T	CCDS10999.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627495	0.46944	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.63096	-0.02;-0.02;-0.02	6.04	0.793	0.18632	6.04	0.793	0.18632	Dbl homology (DH) domain (5);	0.341955	0.34603	N	0.003837	T	0.42404	0.1201	N	0.11313	0.125	0.80722	D	1	P;B;P;B	0.50369	0.934;0.009;0.545;0.003	P;B;B;B	0.47102	0.537;0.021;0.221;0.005	T	0.30880	-0.9963	10	0.51188	T	0.08	.	6.4166	0.21719	0.0:0.5355:0.1223:0.3422	.	121;51;130;167	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	167;121;130;51	ENSP00000303909:Q167H;ENSP00000442048:Q121H;ENSP00000291107:Q130H	ENSP00000291107:Q130H	Q	-	3	2	2	ABR	941685	941685	0.952000	0.32445	1.000000	0.80357	0.984000	0.73092	0.090000	0.15025	0.463000	0.27118	-0.251000	0.11542	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.167976	1	0.170000				84	82		407	397	1		1	1		0	0	101	0		1	1	0	32	0	117	0	84	407
PFAS	5198	broad.mit.edu	37	17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	432					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607																																						ENST00000314666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1294-1296)tCc>tAc		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)						73.0	72.0	72.0					17																	8161476		2203	4300	6503	SO:0001583	missense	5198	0	0					g.chr17:8161476C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1295C>A	chr17.hg19:g.8161476C>A	ENSP00000313490:p.Ser432Tyr	0					PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	p.S432Y	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		11	1428	+			A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	1	1	hg19	c.1295C>A	CCDS11136.1	1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233363	0.09969	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.42131	1.51;0.98	5.78	3.66	0.41972	5.78	3.66	0.41972	PurM, N-terminal-like (1);	0.110757	0.64402	D	0.000005	T	0.44159	0.1280	M	0.74258	2.255	0.53688	D	0.999974	B	0.32620	0.378	B	0.36186	0.219	T	0.42327	-0.9458	10	0.87932	D	0	-9.5672	8.5399	0.33386	0.0:0.757:0.1488:0.0942	.	432	O15067	PUR4_HUMAN	Y	8;432	ENSP00000441706:S8Y;ENSP00000313490:S432Y	ENSP00000313490:S432Y	S	+	2	0	0	PFAS	8102201	8102201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.263000	0.51546	0.677000	0.31305	0.561000	0.74099	TCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.471438	1	0.170000				96	95		393	390	1		1	1		0	0	89	0		1	9.457802e-01	0	10	0	12	0	96	393
PFAS	5198	broad.mit.edu	37	17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	509					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577																																						ENST00000314666.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995230	0.990000	1.000000																										0				35						c.(1525-1527)aAc>aGc		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)						120.0	123.0	122.0					17																	8166542		2203	4300	6503	SO:0001583	missense	5198	0	0					g.chr17:8166542A>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1526A>G	chr17.hg19:g.8166542A>G	ENSP00000313490:p.Asn509Ser	0					PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	p.N509S	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		13	1659	+			A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	1	1	hg19	c.1526A>G	CCDS11136.1	1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603648	0.46423	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.91	5.91	0.95273	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.65105	-0.6249	10	0.87932	D	0	-24.994	14.3033	0.66368	1.0:0.0:0.0:0.0	.	85;509	F5GWT9;O15067	.;PUR4_HUMAN	S	85;509	ENSP00000441706:N85S;ENSP00000313490:N509S	ENSP00000313490:N509S	N	+	2	0	0	PFAS	8107267	8107267	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.163000	0.89659	2.266000	0.75297	0.533000	0.62120	AAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-19.975480	1	0.170000				74	70		688	670	1		1	1		0	0	142	0		1	8.413206e-01	0	4	0	29	0	74	688
PFAS	5198	broad.mit.edu	37	17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	rs117044677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	743					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17088	0.0		0.001	False		,,,				2504	0.0					ENST00000314666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2227-2229)gCc>gTc		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)																																			SO:0001583	missense	5198	2	121392	27				g.chr17:8168391C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2228C>T	chr17.hg19:g.8168391C>T	ENSP00000313490:p.Ala743Val	0					PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	p.A743V	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		18	2361	+			A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	1	1	hg19	c.2228C>T	CCDS11136.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.54	3.847335	0.71603	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.53640	0.61;1.33	5.8	5.8	0.92144	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.88704	2.975	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.69308	-0.5179	10	0.87932	D	0	-13.024	17.5632	0.87912	0.0:1.0:0.0:0.0	.	743	O15067	PUR4_HUMAN	V	319;743;152	ENSP00000441706:A319V;ENSP00000313490:A743V	ENSP00000313490:A743V	A	+	2	0	0	PFAS	8109116	8109116	1.000000	0.71417	0.945000	0.38365	0.031000	0.12232	7.035000	0.76517	2.758000	0.94735	0.563000	0.77884	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				42	41		193	191	1		1	1		0	0	43	0		1	9.988034e-01	0	15	0	35	0	42	193
PFAS	5198	broad.mit.edu	37	17	8168671	8168671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	782					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627																																						ENST00000314666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2344-2346)gcG>gcA		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)						78.0	85.0	83.0					17																	8168671		2203	4300	6503	SO:0001819	synonymous_variant	5198	0	0					g.chr17:8168671G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2346G>A	chr17.hg19:g.8168671G>A		0					PFAS_ENST00000545834.1_Silent_p.A358A	p.A782A	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		19	2479	+			A6H8V8	Silent	SNP	ENST00000314666.6	1	1	hg19	c.2346G>A	CCDS11136.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-2.797845	1	0.170000				111	106		471	455	1		1	1		0	0	104	0		1	9.935286e-01	0	13	0	22	0	111	471
PFAS	5198	broad.mit.edu	37	17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	916					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592																																						ENST00000314666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2746-2748)gTc>gCc		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)						111.0	91.0	98.0					17																	8169597		2203	4300	6503	SO:0001583	missense	5198	0	0					g.chr17:8169597T>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2747T>C	chr17.hg19:g.8169597T>C	ENSP00000313490:p.Val916Ala	0					PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	p.V916A	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		22	2880	+			A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	1	1	hg19	c.2747T>C	CCDS11136.1	1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.14766	2.48;2.48	5.92	5.92	0.95590	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.358875	0.30820	N	0.008814	T	0.13500	0.0327	L	0.32530	0.975	0.46149	D	0.998891	B	0.18461	0.028	B	0.20577	0.03	T	0.02758	-1.1114	10	0.72032	D	0.01	-7.6971	14.3183	0.66468	0.0:0.0:0.0:1.0	.	916	O15067	PUR4_HUMAN	A	492;916;325	ENSP00000441706:V492A;ENSP00000313490:V916A	ENSP00000313490:V916A	V	+	2	0	0	PFAS	8110322	8110322	1.000000	0.71417	0.956000	0.39512	0.512000	0.34134	7.475000	0.81041	2.274000	0.75844	0.533000	0.62120	GTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				50	50		254	252	1		1	1		0	0	56	0		1	9.649030e-01	0	12	0	18	0	50	254
PFAS	5198	broad.mit.edu	37	17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627																																						ENST00000314666.6	1.000000	0.300000	8.500000e-01	4.200000e-01	0.580000	0.625781	0.580000	0.540000																										0				35						c.(3445-3447)Cgg>Tgg		phosphoribosylformylglycinamidine synthase	L-Glutamine(DB00130)						35.0	37.0	36.0					17																	8171913		2203	4300	6503	SO:0001583	missense	5198	1	121408	31				g.chr17:8171913C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3445C>T	chr17.hg19:g.8171913C>T	ENSP00000313490:p.Arg1149Trp	0					PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	p.R1149W	NM_012393.2	NP_036525.1	1	2	3	2.017774	O15067	PUR4_HUMAN		27	3578	+			A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	1	1	hg19	c.3445C>T	CCDS11136.1	0	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881660	0.72294	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.38401	1.14;1.87	5.11	5.11	0.69529	5.11	5.11	0.69529	Glutamine amidotransferase type 1 (1);	0.000000	0.64402	D	0.000001	T	0.73094	0.3543	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82178	-0.0586	10	0.87932	D	0	-24.7076	11.4877	0.50363	0.1795:0.8205:0.0:0.0	.	1149;1149	A8K8N7;O15067	.;PUR4_HUMAN	W	725;1149;558	ENSP00000441706:R725W;ENSP00000313490:R1149W	ENSP00000313490:R1149W	R	+	1	2	2	PFAS	8112638	8112638	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.607000	0.54102	2.537000	0.85549	0.563000	0.77884	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-13.116930	1	0.170000				11	11		227	224	0		1	1		0	0	41	0		9.983328e-01	6.171785e-01	0	8	0	35	0	11	227
SLC25A35	399512	broad.mit.edu	37	17	8197811	8197811	+	Silent	SNP	G	G	A	rs370418707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000577745.1	-	1	825	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000380067.2_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000579192.1_Silent_p.S105S			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	105					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632																																						ENST00000577745.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				6						c.(313-315)agC>agT		solute carrier family 25, member 35		G		3,4371		0,3,2184	25.0	25.0	25.0		315	-3.5	0.9	17		25	0,8522		0,0,4261	no	coding-synonymous	SLC25A35	NM_201520.1		0,3,6445	AA,AG,GG		0.0,0.0686,0.0233		105/296	8197811	3,12893	2187	4261	6448	SO:0001819	synonymous_variant	399512	3	121296	28				g.chr17:8197811G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.315C>T	chr17.hg19:g.8197811G>A		0					SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000380067.2_Silent_p.S105S	p.S105S			1	2	3	2.017774	Q3KQZ1	S2535_HUMAN		1	825	-			Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	1	1	hg19	c.315C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_201520			42	40		235	230	1		1	1		0	0	40	0		1	8.641170e-01	0	4	0	18	0	42	235
ARHGEF15	22899	broad.mit.edu	37	17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	56	Pro-rich.				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)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622																																						ENST00000361926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(166-168)cCa>cAa		Rho guanine nucleotide exchange factor (GEF) 15							99.0	102.0	101.0					17																	8215524		2203	4300	6503	SO:0001583	missense	22899	0	0					g.chr17:8215524C>A	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.167C>A	chr17.hg19:g.8215524C>A	ENSP00000355026:p.Pro56Gln	0					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	p.P56Q	NM_173728.3	NP_776089.2	1	2	3	2.017774	O94989	ARHGF_HUMAN		2	277	+			A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	1	1	hg19	c.167C>A	CCDS11139.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.850|5.850	0.341069|0.341069	0.11069|0.11069	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72051|.	-0.62;-0.62|.	5.14|5.14	0.796|0.796	0.18648|0.18648	5.14|5.14	0.796|0.796	0.18648|0.18648	.|.	0.685542|.	0.12656|.	N|.	0.450016|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|6	0.66056|0.52906	D|T	0.02|0.07	-0.5385|-0.5385	3.993|3.993	0.09545|0.09545	0.1636:0.5705:0.0:0.2659|0.1636:0.5705:0.0:0.2659	.|.	56;56|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	Q|K	56|18	ENSP00000355026:P56Q;ENSP00000412505:P56Q|.	ENSP00000355026:P56Q|ENSP00000413324:Q18K	P|Q	+|+	2|1	0|0	0|0	ARHGEF15|ARHGEF15	8156249|8156249	8156249|8156249	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.798000|0.798000	0.45092|0.45092	0.024000|0.024000	0.13555|0.13555	0.056000|0.056000	0.16144|0.16144	-0.145000|-0.145000	0.13849|0.13849	CCA|CAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	1	0	1		2	2	2	0		0	0	143		143	113	1	2.060000	-3.001727	1	0.170000	NM_173728			138	132		591	472	1		1	0		0	0	143	0		1	7.362694e-01	0	0	0	13	0	138	591
ARHGEF15	22899	broad.mit.edu	37	17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_Splice_Site|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	694					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)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642																																						ENST00000361926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2080-2082)caG>caT		Rho guanine nucleotide exchange factor (GEF) 15							77.0	80.0	79.0					17																	8222373		2203	4300	6503	SO:0001583	missense	22899	0	0					g.chr17:8222373G>T	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.2082G>T	chr17.hg19:g.8222373G>T	ENSP00000355026:p.Gln694His	0					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H|ARHGEF15_ENST00000582060.1_Splice_Site|AC135178.7_ENST00000458568.1_RNA	p.Q694H	NM_173728.3	NP_776089.2	1	2	3	2.017774	O94989	ARHGF_HUMAN		13	2192	+			A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	0	1	hg19	c.2082G>T	CCDS11139.1	1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427328	0.43122	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.89	1.55	0.23275	4.89	1.55	0.23275	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.41573	1.285	0.33947	D	0.643989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86348	0.1709	10	0.72032	D	0.01	-21.3641	3.8717	0.09039	0.2262:0.2035:0.5703:0.0	.	694;694	D3DTR7;O94989	.;ARHGF_HUMAN	H	694;484;694	ENSP00000355026:Q694H;ENSP00000412505:Q694H	ENSP00000355026:Q694H	Q	+	3	2	2	ARHGEF15	8163098	8163098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.627000	0.30340	0.561000	0.74099	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_173728			105	100		477	467	1		1	0		0	0	94	0		1	7.095715e-01	0	0	0	13	0	105	477
ODF4	146852	broad.mit.edu	37	17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000328248.2	+	1	495	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557																																						ENST00000328248.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999744	0.990000	1.000000																										0				8						c.(307-309)Aaa>Caa		outer dense fiber of sperm tails 4							45.0	41.0	42.0					17																	8243676		2203	4300	6503	SO:0001583	missense	146852	0	0					g.chr17:8243676A>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.307A>C	chr17.hg19:g.8243676A>C	ENSP00000331086:p.Lys103Gln	0					RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	p.K103Q	NM_153007.4	NP_694552.2	1	2	3	2.017774	Q2M2E3	ODFP4_HUMAN		1	495	+			Q8J021	Missense_Mutation	SNP	ENST00000328248.2	1	1	hg19	c.307A>C	CCDS11140.1	1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444775	0.25987	.	.	ENSG00000184650	ENST00000328248	T	0.25749	1.78	4.89	2.47	0.30058	4.89	2.47	0.30058	.	0.425172	0.20109	N	0.099047	T	0.20495	0.0493	L	0.43923	1.385	0.40096	D	0.976312	P	0.36392	0.551	B	0.34779	0.189	T	0.07009	-1.0795	10	0.66056	D	0.02	-10.367	9.0114	0.36144	0.6393:0.3607:0.0:0.0	.	103	Q2M2E3	ODFP4_HUMAN	Q	103	ENSP00000331086:K103Q	ENSP00000331086:K103Q	K	+	1	0	0	ODF4	8184401	8184401	0.957000	0.32711	0.990000	0.47175	0.012000	0.07955	1.522000	0.35921	0.848000	0.35191	0.533000	0.62120	AAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000				18	17		89	86	1		1			0	0	25	0		9.999857e-01	0	0	0	0	0	0	18	89
KRBA2	124751	broad.mit.edu	37	17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000331336.2	-	2	1429	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P393L	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	475					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522																																						ENST00000331336.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1423-1425)cCt>cTt		KRAB-A domain containing 2							138.0	123.0	128.0					17																	8272507		2203	4300	6503	SO:0001583	missense	124751	0	0					g.chr17:8272507G>A	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.1424C>T	chr17.hg19:g.8272507G>A	ENSP00000328017:p.Pro475Leu	0					RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P393L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	p.P475L	NM_213597.2	NP_998762.1	1	2	3	2.017774	Q6ZNG9	KRBA2_HUMAN		2	1429	-			Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	1	1	hg19	c.1424C>T	CCDS11141.1	1	.	.	.	.	.	.	.	.	.	.	g	9.358	1.067243	0.20067	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25749	1.87;1.78	2.56	1.59	0.23543	2.56	1.59	0.23543	.	.	.	.	.	T	0.23210	0.0561	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27673	-1.0067	9	0.87932	D	0	.	5.3549	0.16055	0.1587:0.0:0.8413:0.0	.	475	Q6ZNG9	KRBA2_HUMAN	L	393;475	ENSP00000379565:P393L;ENSP00000328017:P475L	ENSP00000328017:P475L	P	-	2	0	0	KRBA2	8213232	8213232	0.485000	0.25972	0.002000	0.10522	0.042000	0.13812	0.667000	0.25112	0.662000	0.31006	0.650000	0.86243	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-2.919241	1	0.170000	NM_213597			85	84		384	376	1		1	0		0	0	90	0		1	6.195932e-01	0	1	0	10	0	85	384
KRBA2	124751	broad.mit.edu	37	17	8274848	8274848	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	ENST00000331336.2	-	1	10	c.5C>A	c.(4-6)cCt>cAt	p.P2H	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	2					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CAGGAATGAAGGCATGCAGCA	0.483																																						ENST00000331336.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				18						c.(4-6)cCt>cAt		KRAB-A domain containing 2							54.0	58.0	56.0					17																	8274848		2203	4300	6503	SO:0001583	missense	124751	0	0					g.chr17:8274848G>T	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.5C>A	chr17.hg19:g.8274848G>T	ENSP00000328017:p.Pro2His	0					RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	p.P2H	NM_213597.2	NP_998762.1	1	2	3	2.017774	Q6ZNG9	KRBA2_HUMAN		1	10	-			Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	1	1	hg19	c.5C>A	CCDS11141.1	1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745553	0.15710	.	.	ENSG00000184619	ENST00000331336	T	0.31769	1.48	2.21	1.22	0.21188	2.21	1.22	0.21188	.	.	.	.	.	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	B	0.41036	0.346	T	0.11084	-1.0602	9	0.87932	D	0	.	4.8906	0.13724	0.1807:0.0:0.8193:0.0	.	2	Q6ZNG9	KRBA2_HUMAN	H	2	ENSP00000328017:P2H	ENSP00000328017:P2H	P	-	2	0	0	KRBA2	8215573	8215573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.832000	0.27490	0.501000	0.28013	0.462000	0.41574	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_213597			35	35		198	189	0		1	0		0	0	39	0		1	0	0	0	0	1	0	35	198
NDEL1	81565	broad.mit.edu	37	17	8354153	8354153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000334527.7	+	6	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.S194S|NDEL1_ENST00000380025.4_Silent_p.S194S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {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)			large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468																																						ENST00000334527.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(580-582)tcG>tcA		nudE neurodevelopment protein 1-like 1							76.0	65.0	69.0					17																	8354153		2203	4300	6503	SO:0001819	synonymous_variant	81565	0	0					g.chr17:8354153G>A	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.582G>A	chr17.hg19:g.8354153G>A		0					NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S	p.S194S	NM_030808.4	NP_110435.1	1	2	3	2.017774	Q9GZM8	NDEL1_HUMAN		6	779	+			B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	1	1	hg19	c.582G>A	CCDS11143.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.997094	1	0.170000	NM_030808			51	48		173	169	1		1	1		0	0	45	0		1	1	0	48	0	198	0	51	173
NDEL1	81565	broad.mit.edu	37	17	8358148	8358148	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000334527.7	+	7	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.T245T|NDEL1_ENST00000380025.4_Silent_p.T245T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {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)			large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403																																						ENST00000334527.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(733-735)acT>acC		nudE neurodevelopment protein 1-like 1							240.0	239.0	239.0					17																	8358148		2203	4300	6503	SO:0001819	synonymous_variant	81565	0	0					g.chr17:8358148T>C	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.735T>C	chr17.hg19:g.8358148T>C		0					NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T	p.T245T	NM_030808.4	NP_110435.1	1	2	3	2.017774	Q9GZM8	NDEL1_HUMAN		7	932	+			B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	1	1	hg19	c.735T>C	CCDS11143.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	0	0	1		14	5	2	1		1	1	290		290	288	1	2.060000	-20.000000	1	0.170000	NM_030808			196	195		893	880	1		1	1		1	0	290	0		1	1	0	53	0	166	0	196	893
MYH10	4628	broad.mit.edu	37	17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000269243.4	-	40	5816	c.5678C>T	c.(5677-5679)gCg>gTg	p.A1893V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					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)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572																																						ENST00000269243.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(5677-5679)gCg>gTg		myosin, heavy chain 10, non-muscle							84.0	72.0	76.0					17																	8380302		2203	4300	6503	SO:0001583	missense	4628	1	121412	33				g.chr17:8380302G>A	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.5678C>T	chr17.hg19:g.8380302G>A	ENSP00000269243:p.Ala1893Val	0					NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V	p.A1893V	NM_005964.3	NP_005955.3	1	2	3	2.017774	P35580	MYH10_HUMAN		40	5816	-			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	1	1	hg19	c.5678C>T	CCDS11144.1	1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	0	MYH10	8321027	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.382100	1	0.170000				62	61		244	236	1		1	1		0	0	41	0		1	9.999999e-01	0	4	0	96	0	62	244
MYH10	4628	broad.mit.edu	37	17	8381680	8381680	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	ENST00000269243.4	-	39	5727	c.5589A>G	c.(5587-5589)cgA>cgG	p.R1863R	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Silent_p.R1894R|MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000379980.4_Silent_p.R1879R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1863					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)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGTCCGCGTGTCGACGCTCAT	0.542																																						ENST00000269243.4	1.000000	0.390000	7.700000e-01	4.800000e-01	0.590000	0.632419	0.590000	0.580000																										0				52						c.(5587-5589)cgA>cgG		myosin, heavy chain 10, non-muscle							152.0	123.0	133.0					17																	8381680		2203	4300	6503	SO:0001819	synonymous_variant	4628	0	0					g.chr17:8381680T>C	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.5589A>G	chr17.hg19:g.8381680T>C		0					NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.R1879R|MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000360416.3_Silent_p.R1894R	p.R1863R	NM_005964.3	NP_005955.3	1	2	3	2.017774	P35580	MYH10_HUMAN		39	5727	-			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	0	1	hg19	c.5589A>G	CCDS11144.1	0																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000				26	24		512	508	0		1	0		0	0	101	0		9.999999e-01	9.542359e-01	0	0	0	102	0	26	512
MYH10	4628	broad.mit.edu	37	17	8390805	8390805	+	Silent	SNP	G	G	A	rs375050384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000269243.4	-	34	5037	c.4899C>T	c.(4897-4899)atC>atT	p.I1633I	MYH10_ENST00000360416.3_Silent_p.I1664I|MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000396239.1_Silent_p.I1654I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1633					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)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552																																						ENST00000269243.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(4897-4899)atC>atT		myosin, heavy chain 10, non-muscle		G		1,4405	2.1+/-5.4	0,1,2202	254.0	232.0	239.0		4899	-10.1	0.1	17		239	0,8600		0,0,4300	no	coding-synonymous	MYH10	NM_005964.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1633/1977	8390805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4628	1	121412	41				g.chr17:8390805G>A	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.4899C>T	chr17.hg19:g.8390805G>A		0					MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000396239.1_Silent_p.I1654I|MYH10_ENST00000360416.3_Silent_p.I1664I	p.I1633I	NM_005964.3	NP_005955.3	1	2	3	2.017774	P35580	MYH10_HUMAN		34	5037	-			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	1	1	hg19	c.4899C>T	CCDS11144.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1		2	2	2	0		0	0	226		226	223	1	2.060000	-20.000000	1	0.170000				263	262		1056	1035	1		1	1		0	0	226	0		1	9.999963e-01	0	3	0	68	0	263	1056
MYH10	4628	broad.mit.edu	37	17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000269243.4	-	13	1651	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	MYH10_ENST00000360416.3_Missense_Mutation_p.E515K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	505	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)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473																																						ENST00000269243.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1513-1515)Gag>Aag		myosin, heavy chain 10, non-muscle							168.0	143.0	151.0					17																	8445487		2203	4300	6503	SO:0001583	missense	4628	0	0					g.chr17:8445487C>T	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.1513G>A	chr17.hg19:g.8445487C>T	ENSP00000269243:p.Glu505Lys	0					MYH10_ENST00000360416.3_Missense_Mutation_p.E515K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	p.E505K	NM_005964.3	NP_005955.3	1	2	3	2.017774	P35580	MYH10_HUMAN		13	1651	-			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	1	1	hg19	c.1513G>A	CCDS11144.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.876551	0.97055	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	4.96	0.65561	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.69358	2.11	0.80722	D	1	P;P;P	0.51147	0.906;0.942;0.906	P;P;P	0.52598	0.619;0.703;0.619	D	0.91663	0.5344	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	514;515;505	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	505;515;505;521	ENSP00000269243:E505K;ENSP00000353590:E515K;ENSP00000379539:E505K;ENSP00000369315:E521K	ENSP00000269243:E505K	E	-	1	0	0	MYH10	8386212	8386212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.735000	0.93741	0.563000	0.77884	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.031760	1	0.170000				69	69		307	300	1		1	1		0	0	78	0		1	9.998922e-01	0	6	0	55	0	69	307
MYH10	4628	broad.mit.edu	37	17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000269243.4	-	12	1454	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	MYH10_ENST00000360416.3_Missense_Mutation_p.R449H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|RN7SL129P_ENST00000479993.2_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	439	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)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428																																						ENST00000269243.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1315-1317)cGc>cAc		myosin, heavy chain 10, non-muscle							105.0	103.0	104.0					17																	8448851		2203	4300	6503	SO:0001583	missense	4628	1	121412	30				g.chr17:8448851C>T	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.1316G>A	chr17.hg19:g.8448851C>T	ENSP00000269243:p.Arg439His	0					RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.R449H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	p.R439H	NM_005964.3	NP_005955.3	1	2	3	2.017774	P35580	MYH10_HUMAN		12	1454	-			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	1	1	hg19	c.1316G>A	CCDS11144.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.383496	0.95967	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.90425	3.115	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	0.96149	0.9106	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	448;449;439	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	439;449;439;455	ENSP00000269243:R439H;ENSP00000353590:R449H;ENSP00000379539:R439H;ENSP00000369315:R455H	ENSP00000269243:R439H	R	-	2	0	0	MYH10	8389576	8389576	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.438211	1	0.170000				94	93		390	386	1		1	1		0	0	77	0		1	9.999131e-01	0	4	0	55	0	94	390
CCDC42	146849	broad.mit.edu	37	17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542																																						ENST00000293845.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(919-921)aaA>aaC		coiled-coil domain containing 42							120.0	100.0	107.0					17																	8633478		2203	4300	6503	SO:0001583	missense	146849	0	0					g.chr17:8633478T>G	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.921A>C	chr17.hg19:g.8633478T>G	ENSP00000293845:p.Lys307Asn	0					CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	p.K307N	NM_144681.2	NP_653282.2	1	2	3	2.017774	Q96M95	CCD42_HUMAN		7	1147	-			Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	1	1	hg19	c.921A>C	CCDS11145.1	1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568810	0.45798	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.30981	1.68;1.51	5.29	3.31	0.37934	5.29	3.31	0.37934	.	0.088480	0.48767	D	0.000163	T	0.26085	0.0636	L	0.52573	1.65	0.29275	N	0.87043	P	0.36282	0.546	B	0.35550	0.205	T	0.16158	-1.0412	10	0.54805	T	0.06	-43.6762	8.4957	0.33127	0.0:0.8159:0.0:0.1841	.	307	Q96M95	CCD42_HUMAN	N	307;233	ENSP00000293845:K307N;ENSP00000444359:K233N	ENSP00000293845:K307N	K	-	3	2	2	CCDC42	8574203	8574203	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.435000	0.21510	0.797000	0.33971	-0.242000	0.12053	AAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_144681			49	49		184	183	1		1			0	0	38	0		1	0	0	0	0	0	0	49	184
CCDC42	146849	broad.mit.edu	37	17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572																																						ENST00000293845.3	1.000000	0.240000	7.300000e-01	3.500000e-01	0.490000	0.546899	0.490000	0.460000																										0				9						c.(775-777)aTt>aCt		coiled-coil domain containing 42							145.0	114.0	125.0					17																	8638511		2203	4300	6503	SO:0001583	missense	146849	0	0					g.chr17:8638511A>G	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.776T>C	chr17.hg19:g.8638511A>G	ENSP00000293845:p.Ile259Thr	0					CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	p.I259T	NM_144681.2	NP_653282.2	1	2	3	2.017774	Q96M95	CCD42_HUMAN		6	1002	-			Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	1	1	hg19	c.776T>C	CCDS11145.1	0	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169964	0.57584	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29397	1.57;1.58	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000021	T	0.42471	0.1204	L	0.37630	1.12	0.40759	D	0.982985	D	0.76494	0.999	D	0.70716	0.97	T	0.17471	-1.0368	10	0.24483	T	0.36	-13.7427	13.9048	0.63828	1.0:0.0:0.0:0.0	.	259	Q96M95	CCD42_HUMAN	T	259;185	ENSP00000293845:I259T;ENSP00000444359:I185T	ENSP00000293845:I259T	I	-	2	0	0	CCDC42	8579236	8579236	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.008000	0.76341	2.127000	0.65507	0.460000	0.39030	ATT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-4.118028	1	0.170000	NM_144681			10	10		248	243	0		1	0		0	0	36	0		9.967313e-01	1.945181e-03	0	0	0	2	0	10	248
CCDC42	146849	broad.mit.edu	37	17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	215										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637																																						ENST00000293845.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(643-645)Ctg>Atg		coiled-coil domain containing 42							72.0	66.0	68.0					17																	8638779		2203	4300	6503	SO:0001583	missense	146849	0	0					g.chr17:8638779G>T	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.643C>A	chr17.hg19:g.8638779G>T	ENSP00000293845:p.Leu215Met	0					CCDC42_ENST00000539522.2_Intron	p.L215M	NM_144681.2	NP_653282.2	1	2	3	2.017774	Q96M95	CCD42_HUMAN		5	869	-			Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	1	1	hg19	c.643C>A	CCDS11145.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658038	0.67586	.	.	ENSG00000161973	ENST00000293845	T	0.36878	1.23	5.52	4.55	0.56014	5.52	4.55	0.56014	.	0.000000	0.47455	D	0.000231	T	0.52041	0.1710	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53927	-0.8369	10	0.62326	D	0.03	-25.5596	13.1418	0.59438	0.0773:0.0:0.9227:0.0	.	215	Q96M95	CCD42_HUMAN	M	215	ENSP00000293845:L215M	ENSP00000293845:L215M	L	-	1	2	2	CCDC42	8579504	8579504	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.336000	0.59304	1.571000	0.49722	0.563000	0.77884	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_144681			58	58		338	328	1		1			0	0	54	0		1	0	0	0	0	0	0	58	338
MFSD6L	162387	broad.mit.edu	37	17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	57						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657																																						ENST00000329805.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(169-171)Cta>Ata		major facilitator superfamily domain containing 6-like							50.0	57.0	55.0					17																	8702270		2203	4300	6503	SO:0001583	missense	162387	0	0					g.chr17:8702270G>T	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.169C>A	chr17.hg19:g.8702270G>T	ENSP00000330051:p.Leu57Ile	0						p.L57I	NM_152599.3	NP_689812.3	1	2	3	2.017774	Q8IWD5	MFS6L_HUMAN		1	397	-			Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	1	1	hg19	c.169C>A	CCDS11146.1	1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798281	0.70567	.	.	ENSG00000185156	ENST00000329805	D	0.84442	-1.85	4.47	3.42	0.39159	4.47	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.222943	0.29369	N	0.012358	D	0.86707	0.5997	M	0.70595	2.14	0.33418	D	0.57947	D	0.64830	0.994	D	0.66716	0.946	D	0.83921	0.0301	10	0.09338	T	0.73	-9.7704	3.8006	0.08757	0.1738:0.2465:0.5797:0.0	.	57	Q8IWD5	MFS6L_HUMAN	I	57	ENSP00000330051:L57I	ENSP00000330051:L57I	L	-	1	2	2	MFSD6L	8642995	8642995	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	2.524000	0.45589	2.302000	0.77476	0.655000	0.94253	CTA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_152599			70	69		303	301	1		1	1		0	0	65	0		1	5.866034e-01	0	4	0	6	0	70	303
PIK3R6	146850	broad.mit.edu	37	17	8725208	8725208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	ENST00000311434.9	-	18	2071	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	612					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)										CAGCCCAGTGGCCCGCAGGAA	0.587																																						ENST00000311434.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999694	0.990000	1.000000																										0										c.(1831-1833)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 6							35.0	36.0	36.0					17																	8725208		1989	4168	6157	SO:0001583	missense	146850	0	0					g.chr17:8725208G>A	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.1832C>T	chr17.hg19:g.8725208G>A	ENSP00000475670:p.Ala611Val	0					PIK3R6_ENST00000434064.2_5'UTR	p.A611V	NM_001010855.2	NP_001010855.1	1	2	3	2.017774	Q5UE93	PI3R6_HUMAN		18	2071	-			Q658R3	Missense_Mutation	SNP	ENST00000311434.9	0	1	hg19	c.1832C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.996480	1	0.170000	NM_001010855			11	9		34	34	0		1	0		0	0	10	0		9.987376e-01	5.553320e-01	0	0	0	7	0	11	34
PIK3R6	146850	broad.mit.edu	37	17	8731458	8731458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	ENST00000311434.9	-	12	1602	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	455					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)										ATGTAGTAGAGCTGCAGGCTG	0.652																																						ENST00000311434.9	1.000000	0.750000	1	8.900000e-01	0.990000	0.963353	0.990000	1.000000																										0										c.(1363-1365)Ctc>Ttc		phosphoinositide-3-kinase, regulatory subunit 6							88.0	91.0	90.0					17																	8731458		1991	4165	6156	SO:0001583	missense	146850	0	0					g.chr17:8731458G>A	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.1363C>T	chr17.hg19:g.8731458G>A	ENSP00000475670:p.Leu455Phe	0					PIK3R6_ENST00000434064.2_5'UTR	p.L455F	NM_001010855.2	NP_001010855.1	1	2	3	2.017774	Q5UE93	PI3R6_HUMAN		12	1602	-			Q658R3	Missense_Mutation	SNP	ENST00000311434.9	0	1	hg19	c.1363C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-11.157730	1	0.170000	NM_001010855			34	33		352	347	0		1	0		0	0	82	0		1	3.297360e-01	0	0	0	13	0	34	352
PIK3R6	146850	broad.mit.edu	37	17	8741937	8741937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	ENST00000311434.9	-	4	372	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					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)										CCGGGATCTCGCTCGACCTTC	0.592																																						ENST00000311434.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.998366	0.990000	1.000000																										0										c.(133-135)Cga>Tga		phosphoinositide-3-kinase, regulatory subunit 6							40.0	42.0	41.0					17																	8741937		1953	4116	6069	SO:0001587	stop_gained	146850	0	0					g.chr17:8741937G>A	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.133C>T	chr17.hg19:g.8741937G>A	ENSP00000475670:p.Arg45*	0					PIK3R6_ENST00000434064.2_5'UTR	p.R45*	NM_001010855.2	NP_001010855.1	1	2	3	2.017774	Q5UE93	PI3R6_HUMAN		4	372	-			Q658R3	Nonsense_Mutation	SNP	ENST00000311434.9	0	1	hg19	c.133C>T		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-3.597006	1	0.170000	NM_001010855			10	10		43	42	0		1	0		0	0	10	0		9.975824e-01	8.461036e-01	0	0	0	17	0	10	43
PIK3R5	23533	broad.mit.edu	37	17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	417					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				34						c.(1249-1251)Cct>Tct		phosphoinositide-3-kinase, regulatory subunit 5							17.0	19.0	18.0					17																	8791855		2201	4299	6500	SO:0001583	missense	23533	0	0					g.chr17:8791855G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1249C>T	chr17.hg19:g.8791855G>A	ENSP00000392812:p.Pro417Ser	0					PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S	p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	1	2	3	2.017774	Q8WYR1	PI3R5_HUMAN		10	1373	-			B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	1	1	hg19	c.1249C>T	CCDS11147.1	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583346	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76186	-1.0	5.51	-0.659	0.11424	5.51	-0.659	0.11424	.	0.537442	0.21129	N	0.079692	T	0.47655	0.1457	N	0.12182	0.205	0.24214	N	0.995461	B	0.02656	0.0	B	0.08055	0.003	T	0.24225	-1.0166	10	0.17369	T	0.5	-5.3769	6.06	0.19832	0.3788:0.0:0.5066:0.1146	.	417	Q8WYR1	PI3R5_HUMAN	S	417	ENSP00000392812:P417S	ENSP00000269300:P417S	P	-	1	0	0	PIK3R5	8732580	8732580	0.839000	0.29477	0.675000	0.29917	0.886000	0.51366	1.691000	0.37721	-0.061000	0.13110	-0.188000	0.12872	CCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_014308			23	23		90	88	1		1	0		0	0	19	0		9.999997e-01	9.895036e-01	0	0	0	32	0	23	90
STX8	9482	broad.mit.edu	37	17	9471724	9471724	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.4	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	27					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATATTGATTTCGTTGTTGAA	0.368																																						ENST00000306357.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.989411	0.990000	1.000000																										0				12						c.(79-81)cgA>cgG		syntaxin 8							176.0	136.0	149.0					17																	9471724		2203	4300	6503	SO:0001819	synonymous_variant	9482	0	0					g.chr17:9471724T>C	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.81A>G	chr17.hg19:g.9471724T>C		0					STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	p.R27R	NM_004853.2	NP_004844.1	1	2	3	2.017774	Q9UNK0	STX8_HUMAN		2	508	-			O60712|Q53XT8	Silent	SNP	ENST00000306357.4	1	1	hg19	c.81A>G	CCDS32565.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.704790	1	0.170000	NM_004853			12	12		85	79	1		1	1		0	0	43	0		9.989963e-01	9.999982e-01	0	44	0	168	0	12	85
WDR16	146845	broad.mit.edu	37	17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000576499.1	+	2	205	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473																																						ENST00000576499.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(190-192)gGc>gAc		WD repeat domain 16							201.0	178.0	185.0					17																	9489210		2203	4300	6503	SO:0001583	missense	146845	0	0					g.chr17:9489210G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.191G>A	chr17.hg19:g.9489210G>A	ENSP00000476293:p.Gly64Asp	0					WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D	p.G64D			1	2	3	2.017774				2	205	+				Missense_Mutation	SNP	ENST00000576499.1	1	1	hg19	c.191G>A		1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324719	0.01309	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.59502	0.26;0.26	5.86	-1.66	0.08265	5.86	-1.66	0.08265	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.436137	0.27236	N	0.020293	T	0.27731	0.0682	N	0.12611	0.24	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.19811	-1.0294	10	0.09590	T	0.72	-3.5552	6.1656	0.20388	0.4481:0.2334:0.3185:0.0	.	74;64	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	D	64;74	ENSP00000339449:G64D;ENSP00000299764:G74D	ENSP00000299764:G74D	G	+	2	0	0	WDR16	9429935	9429935	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.843000	0.27640	-0.189000	0.10482	-0.224000	0.12420	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000	NM_145054			159	156		653	644	1		1			0	0	154	0		1	0	0	0	0	0	0	159	653
WDR16	146845	broad.mit.edu	37	17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537																																						ENST00000352665.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1390-1392)gTg>gCg		WD repeat domain 16							177.0	136.0	150.0					17																	9538792		2203	4300	6503	SO:0001583	missense	146845	0	0					g.chr17:9538792T>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1391T>C	chr17.hg19:g.9538792T>C	ENSP00000339449:p.Val464Ala	0					WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR	p.V464A	NM_145054.4	NP_659491.4	1	2	3	2.017774				11	1460	+				Missense_Mutation	SNP	ENST00000352665.5	1	1	hg19	c.1391T>C	CCDS11149.2	1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740766	0.69304	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.73789	-0.78;-0.78;-0.78	5.08	5.08	0.68730	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057202	0.64402	D	0.000002	D	0.89128	0.6627	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.71656	0.93;0.93;0.974	D	0.91646	0.5331	10	0.59425	D	0.04	-19.7206	13.8542	0.63515	0.0:0.0:0.0:1.0	.	474;396;464	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	464;396;474	ENSP00000339449:V464A;ENSP00000379521:V396A;ENSP00000299764:V474A	ENSP00000299764:V474A	V	+	2	0	0	WDR16	9479517	9479517	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.492000	0.81482	1.907000	0.55213	0.533000	0.62120	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_145054			63	61		252	250	1		1			0	0	74	0		1	0	0	0	0	0	0	63	252
USP43	124739	broad.mit.edu	37	17	9631500	9631500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	855					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			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						TGTTGACGGGCACTGCGGGTG	0.597																																						ENST00000285199.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2563-2565)ggC>ggT		ubiquitin specific peptidase 43							44.0	49.0	48.0					17																	9631500		2112	4223	6335	SO:0001819	synonymous_variant	124739	0	0					g.chr17:9631500C>T	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.2565C>T	chr17.hg19:g.9631500C>T		0					USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	p.G855G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	1	2	3	2.017774	Q70EL4	UBP43_HUMAN		15	2661	+			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	1	1	hg19	c.2565C>T	CCDS45610.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_153210			41	39		131	129	1		1	1		0	0	38	0		1	9.896849e-01	0	11	0	15	0	41	131
GLP2R	9340	broad.mit.edu	37	17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	166					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)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACAGCTTCAAGCAAAACGTGA	0.577																																						ENST00000262441.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(496-498)aaG>aaT		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)|Teduglutide(DB08900)						105.0	84.0	91.0					17																	9745927		2203	4300	6503	SO:0001583	missense	9340	0	0					g.chr17:9745927G>T	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.498G>T	chr17.hg19:g.9745927G>T	ENSP00000262441:p.Lys166Asn	0					GLP2R_ENST00000574745.1_5'UTR	p.K166N	NM_004246.1	NP_004237.1	1	2	3	2.017774	O95838	GLP2R_HUMAN		4	1011	+			Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	1	1	hg19	c.498G>T	CCDS11150.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.886026|1.886026	0.33348|0.33348	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.06|5.06	-3.89|-3.89	0.04193|0.04193	5.06|5.06	-3.89|-3.89	0.04193|0.04193	.|.	0.382542|.	0.19105|.	N|.	0.122616|.	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.47716|0.47716	1.5|1.5	0.18873|0.18873	N|N	0.999983|0.999983	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.30854|.	T|.	0.27|.	.|.	1.3143|1.3143	0.02104|0.02104	0.404:0.2461:0.2295:0.1204|0.404:0.2461:0.2295:0.1204	.|.	166|.	O95838|.	GLP2R_HUMAN|.	N|I	166;141;166|19	ENSP00000262441:K166N|.	ENSP00000262441:K166N|.	K|S	+|+	3|2	2|0	2|0	GLP2R|GLP2R	9686652|9686652	9686652|9686652	0.458000|0.458000	0.25760|0.25760	0.001000|0.001000	0.08648|0.08648	0.961000|0.961000	0.63080|0.63080	0.511000|0.511000	0.22739|0.22739	-0.874000|-0.874000	0.04027|0.04027	-0.181000|-0.181000	0.13052|0.13052	AAG|AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				59	59		216	214	1		1	0		0	0	66	0		1	3.850270e-01	0	0	0	6	0	59	216
GLP2R	9340	broad.mit.edu	37	17	9764515	9764515	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	329					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)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGAGAACACAGGGTAGGTAAT	0.458																																						ENST00000262441.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(985-987)Ggg>Tgg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)|Teduglutide(DB08900)						138.0	132.0	134.0					17																	9764515		2203	4300	6503	SO:0001630	splice_region_variant	9340	0	0					g.chr17:9764515G>T	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.986+1G>T	chr17.hg19:g.9764515G>T		0					GLP2R_ENST00000574745.1_Splice_Site_p.G149W	p.G329W	NM_004246.1	NP_004237.1	1	2	3	2.017774	O95838	GLP2R_HUMAN		8	1498	+			Q4VAT3	Splice_Site	SNP	ENST00000262441.5	1	0	hg19	c.985G>T	CCDS11150.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.037|5.037	0.192458|0.192458	0.09599|0.09599	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.38560|.	1.13|.	5.24|5.24	3.17|3.17	0.36434|0.36434	5.24|5.24	3.17|3.17	0.36434|0.36434	GPCR, family 2-like (1);|.	0.433344|.	0.17499|.	N|.	0.172059|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.85373|0.85373	2.75|2.75	0.44395|0.44395	D|D	0.997307|0.997307	D|.	0.67145|.	0.996|.	D|.	0.72338|.	0.977|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.72032|.	D|.	0.01|.	.|.	8.9082|8.9082	0.35537|0.35537	0.0881:0.1486:0.7633:0.0|0.0881:0.1486:0.7633:0.0	.|.	329|.	O95838|.	GLP2R_HUMAN|.	W|H	329;304;329|181	ENSP00000262441:G329W|.	ENSP00000262441:G329W|.	G|Q	+|+	1|3	0|2	0|2	GLP2R|GLP2R	9705240|9705240	9705240|9705240	0.996000|0.996000	0.38824|0.38824	0.665000|0.665000	0.29768|0.29768	0.137000|0.137000	0.21094|0.21094	2.431000|2.431000	0.44775|0.44775	0.689000|0.689000	0.31550|0.31550	0.655000|0.655000	0.94253|0.94253	GGG|CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-3.203770	1	0.170000		Missense_Mutation		122	118		463	453	1		1	0		0	0	76	0		1	2.826486e-01	0	0	0	5	0	122	463
GLP2R	9340	broad.mit.edu	37	17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	408					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)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACTGATGATCAAGTTGAAGGA	0.378																																						ENST00000262441.5	1.000000	0.380000	6.700000e-01	4.500000e-01	0.540000	0.586615	0.540000	0.530000																										0				44						c.(1222-1224)cAa>cCa		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)|Teduglutide(DB08900)						227.0	204.0	212.0					17																	9783772		2203	4300	6503	SO:0001583	missense	9340	0	0					g.chr17:9783772A>C	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.1223A>C	chr17.hg19:g.9783772A>C	ENSP00000262441:p.Gln408Pro	0					GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	p.Q408P	NM_004246.1	NP_004237.1	1	2	3	2.017774	O95838	GLP2R_HUMAN		11	1736	+			Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	1	1	hg19	c.1223A>C	CCDS11150.1	0	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637962	0.29157	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.46063	0.88	6.03	6.03	0.97812	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.405610	0.18344	N	0.144076	T	0.55986	0.1955	L	0.41710	1.295	0.35801	D	0.823106	D	0.69078	0.997	D	0.72982	0.979	T	0.64871	-0.6305	10	0.66056	D	0.02	.	14.0834	0.64939	1.0:0.0:0.0:0.0	.	408	O95838	GLP2R_HUMAN	P	408	ENSP00000262441:Q408P	ENSP00000262441:Q408P	Q	+	2	0	0	GLP2R	9724497	9724497	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	4.707000	0.61852	2.313000	0.78055	0.454000	0.30748	CAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-5.268768	1	0.170000				40	40		859	840	0		1	0		0	0	145	0		1	3.785144e-02	0	0	0	7	0	40	859
GAS7	8522	broad.mit.edu	37	17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000432992.2	-	13	1461	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.D374G|GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	434					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637			T	MLL	AML*																																	ENST00000432992.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		17	17p	17p	8522	T	growth arrest-specific 7				L	L	MLL		AML*		0				39						c.(1300-1302)gAc>gGc		growth arrest-specific 7							76.0	62.0	67.0					17																	9821334		2203	4300	6503	SO:0001583	missense	8522	0	0					g.chr17:9821334T>C	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1301A>G	chr17.hg19:g.9821334T>C	ENSP00000407552:p.Asp434Gly	0					GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000323816.4_Missense_Mutation_p.D374G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G	p.D434G	NM_201433.1	NP_958839.1	1	2	3	2.017774	O60861	GAS7_HUMAN		13	1461	-			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	1	1	hg19	c.1301A>G	CCDS11152.1	1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920482	0.92249	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.40476	1.03;1.03	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.996	P;P;P;P	0.60541	0.761;0.876;0.669;0.876	T	0.36792	-0.9733	9	.	.	.	1.0203	14.3718	0.66846	0.0:0.0:0.0:1.0	.	386;374;294;434	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	434;374;373;294;139;374;83;248	ENSP00000379421:D374G;ENSP00000446214:D139G	.	D	-	2	0	0	GAS7	9762059	9762059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.868000	0.87116	2.235000	0.73313	0.533000	0.62120	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003644, NM_201432, NM_201433			43	43		187	183	1		1	0		0	0	33	0		1	9.999971e-01	0	0	0	88	0	43	187
GAS7	8522	broad.mit.edu	37	17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000432992.2	-	9	1036	c.876C>A	c.(874-876)ttC>ttA	p.F292L	GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.F232L|GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	292					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532			T	MLL	AML*																																	ENST00000432992.2	1.000000	0.920000	1	9.900000e-01	0.990000	0.995271	0.990000	1.000000				Dom	yes			Dom	yes		17	17p	17p	8522	T	growth arrest-specific 7				L	L	MLL		AML*		0				39						c.(874-876)ttC>ttA		growth arrest-specific 7							123.0	91.0	102.0					17																	9837492		2203	4300	6503	SO:0001583	missense	8522	0	0					g.chr17:9837492G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.876C>A	chr17.hg19:g.9837492G>T	ENSP00000407552:p.Phe292Leu	0					GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L|GAS7_ENST00000323816.4_Missense_Mutation_p.F232L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron	p.F292L	NM_201433.1	NP_958839.1	1	2	3	2.017774	O60861	GAS7_HUMAN		9	1036	-			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	1	1	hg19	c.876C>A	CCDS11152.1	1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929126	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.15256	2.44	4.79	3.75	0.43078	4.79	3.75	0.43078	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.58432	D	0.999997	P;P;B;P	0.52061	0.592;0.95;0.28;0.95	P;P;B;P	0.59424	0.688;0.857;0.144;0.835	T	0.01059	-1.1465	9	.	.	.	-14.102	5.7423	0.18100	0.1848:0.0:0.8152:0.0	.	244;232;152;292	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	292;232;231;152;232;106	ENSP00000379421:F232L	.	F	-	3	2	2	GAS7	9778217	9778217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	2.506000	0.84524	0.655000	0.94253	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_003644, NM_201432, NM_201433			22	22		166	161	1		1	0		0	0	42	0		9.999989e-01	9.984806e-01	0	1	0	80	0	22	166
TBCD	6904	broad.mit.edu	37	17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	996					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662																																						ENST00000355528.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.991027	0.990000	1.000000																										0										c.(2986-2988)tCg>tTg		tubulin folding cofactor D							35.0	40.0	38.0					17																	80887372		2154	4255	6409	SO:0001583	missense	6904	0	0					g.chr17:80887372C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2987C>T	chr17.hg19:g.80887372C>T	ENSP00000347719:p.Ser996Leu	0					TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	p.S996L	NM_005993.4	NP_005984.3	1	2	3	2.013100	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)	32	3117	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	1	1	hg19	c.2987C>T	CCDS45818.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974366	0.74246	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.37411	1.2	4.67	4.67	0.58626	4.67	4.67	0.58626	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.314127	0.31061	N	0.008326	T	0.59307	0.2184	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;P	0.61070	0.814;0.883;0.876	T	0.65569	-0.6136	9	.	.	.	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	747;996;996	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	996;747	ENSP00000347719:S996L	.	S	+	2	0	0	TBCD	78480661	78480661	1.000000	0.71417	0.907000	0.35723	0.156000	0.22039	6.924000	0.75823	2.127000	0.65507	0.561000	0.74099	TCG	1.776886e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	0	0	0		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000	NM_005993			19	18		149	146	0		1	1		0	0	36	0		9.999918e-01	9.999954e-01	0	18	0	156	0	19	149
APCDD1	147495	broad.mit.edu	37	18	10471563	10471563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 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)		TCATCACAAGGTCCTACAGAT	0.458																																						ENST00000355285.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(277-279)agG>agA		adenomatosis polyposis coli down-regulated 1							90.0	86.0	87.0					18																	10471563		2203	4300	6503	SO:0001819	synonymous_variant	147495	0	0					g.chr18:10471563G>A	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.279G>A	chr18.hg19:g.10471563G>A		0					APCDD1_ENST00000578882.1_Silent_p.R93R	p.R93R	NM_153000.4	NP_694545.1	0	1	1	1.988234				3	633	+				Silent	SNP	ENST00000355285.5	1	1	hg19	c.279G>A	CCDS11849.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_153000			58	57		266	260	1		1	0		0	0	53	0		1	1	0	0	0	131	0	58	266
MPPE1	65258	broad.mit.edu	37	18	11887014	11887014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:11887014C>T	ENST00000588072.1	-	7	1801	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	194					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	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)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						ACGCTGTTGACCATCACAAAG	0.527																																						ENST00000588072.1	0.620000	0.110000	4.600000e-01	1.900000e-01	0.310000	0.336035	0.310000	0.290000																										0				5						c.(580-582)Gtc>Atc		metallophosphoesterase 1							48.0	47.0	47.0					18																	11887014		2203	4300	6503	SO:0001583	missense	65258	0	0					g.chr18:11887014C>T	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.580G>A	chr18.hg19:g.11887014C>T	ENSP00000465894:p.Val194Ile	0					MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I	p.V194I	NM_023075.5	NP_075563.3	0	1	1	1.988234	Q53F39	MPPE1_HUMAN		7	1801	-			B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	ENST00000588072.1	0	1	hg19	c.580G>A	CCDS11853.1	0	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080787	0.36758	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.67523	2.3;2.3;2.3;-0.27;2.3	5.2	4.33	0.51752	5.2	4.33	0.51752	Calcineurin-like phosphoesterase superfamily domain (1);	0.189358	0.45361	N	0.000364	T	0.67702	0.2921	L	0.42581	1.335	0.47862	D	0.999535	D;P;D;P;D;B	0.63880	0.993;0.521;0.99;0.708;0.987;0.391	P;B;P;B;P;B	0.60345	0.873;0.111;0.872;0.269;0.873;0.264	T	0.62872	-0.6762	10	0.17832	T	0.49	-8.2786	8.7735	0.34747	0.1489:0.7752:0.0:0.0759	.	194;194;97;194;194;194	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	I	194;194;97;194;194	ENSP00000327257:V194I;ENSP00000311200:V194I;ENSP00000312935:V97I;ENSP00000339423:V194I;ENSP00000382860:V194I	ENSP00000311200:V194I	V	-	1	0	0	MPPE1	11877014	11877014	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.348000	0.44045	1.189000	0.43028	-0.140000	0.14226	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-6.991829	1	0.170000	NM_023075			5	5		197	195	0		1	1		0	0	48	0		9.366879e-01	8.296446e-01	0	2	0	128	0	5	197
IMPA2	3613	broad.mit.edu	37	18	12014290	12014290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	ENST00000269159.3	+	5	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	136					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577																																						ENST00000269159.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999633	0.990000	1.000000																										0				12						c.(406-408)tgC>tgT		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						38.0	36.0	37.0					18																	12014290		2203	4300	6503	SO:0001819	synonymous_variant	3613	0	0					g.chr18:12014290C>T	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.408C>T	chr18.hg19:g.12014290C>T		0					IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	p.C136C	NM_014214.2	NP_055029.1	0	1	1	1.988234	O14732	IMPA2_HUMAN		5	650	+			B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	0	1	hg19	c.408C>T	CCDS11855.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1	0	0	1		24	17	2	1		1	1	24		24	22	1	2.060000	-20.000000	1	0.170000				29	29		180	174	0		1	1		1	0	24	0		7.733713e-01	7.526480e-01	0	39	0	104	0	29	180
CIDEA	1149	broad.mit.edu	37	18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	24					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAGACTAAGCGAGTCCTGTT	0.502																																						ENST00000320477.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(70-72)Cga>Tga		cell death-inducing DFFA-like effector a							65.0	66.0	66.0					18																	12262855		2203	4300	6503	SO:0001587	stop_gained	1149	1	121412	33				g.chr18:12262855C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.70C>T	chr18.hg19:g.12262855C>T	ENSP00000320209:p.Arg24*	0					CIDEA_ENST00000521296.1_3'UTR	p.R24*	NM_001279.3	NP_001270.1	0	1	1	1.988234	O60543	CIDEA_HUMAN		2	135	+			B0YIY7|Q6UPR7	Nonsense_Mutation	SNP	ENST00000320477.9	0	1	hg19	c.70C>T	CCDS11856.1	1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262096	0.59431	.	.	ENSG00000176194	ENST00000320477	.	.	.	5.51	1.59	0.23543	5.51	1.59	0.23543	.	1.472780	0.04843	N	0.440771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.8447	14.6318	0.68660	0.5299:0.4701:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320209:R24X	R	+	1	2	2	CIDEA	12252855	12252855	0.005000	0.15991	0.002000	0.10522	0.344000	0.29017	0.786000	0.26844	0.394000	0.25230	0.655000	0.94253	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_001279			83	82		401	394	1		1			0	0	97	0		1	0	0	0	0	0	0	83	401
CIDEA	1149	broad.mit.edu	37	18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	82	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGATGGCACCGTGGTGGAC	0.507																																						ENST00000320477.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(244-246)aCc>aTc		cell death-inducing DFFA-like effector a							162.0	132.0	142.0					18																	12264367		2203	4300	6503	SO:0001583	missense	1149	0	0					g.chr18:12264367C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.245C>T	chr18.hg19:g.12264367C>T	ENSP00000320209:p.Thr82Ile	0					CIDEA_ENST00000521296.1_3'UTR	p.T82I	NM_001279.3	NP_001270.1	0	1	1	1.988234	O60543	CIDEA_HUMAN		3	310	+			B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	1	1	hg19	c.245C>T	CCDS11856.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967822	0.92855	.	.	ENSG00000176194	ENST00000320477	T	0.61392	0.11	5.26	5.26	0.73747	5.26	5.26	0.73747	Caspase-activated nuclease CIDE-N (3);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86880	0.2041	10	0.87932	D	0	-27.0824	18.486	0.90830	0.0:1.0:0.0:0.0	.	116;82	Q8N5P9;O60543	.;CIDEA_HUMAN	I	82	ENSP00000320209:T82I	ENSP00000320209:T82I	T	+	2	0	0	CIDEA	12254367	12254367	1.000000	0.71417	0.894000	0.35097	0.990000	0.78478	6.885000	0.75606	2.455000	0.83008	0.484000	0.47621	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001279			52	50		256	249	1		1			0	0	61	0		1	0	0	0	0	0	0	52	256
TUBB6	84617	broad.mit.edu	37	18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000317702.5	+	4	1340	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	369					'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)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTTCATCGGCAACAGCACG	0.612																																						ENST00000317702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1105-1107)gGc>gAc		tubulin, beta 6 class V							163.0	147.0	152.0					18																	12325894		2203	4300	6503	SO:0001583	missense	84617	0	0					g.chr18:12325894G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.1106G>A	chr18.hg19:g.12325894G>A	ENSP00000318697:p.Gly369Asp	0					TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron	p.G369D			0	1	1	1.988234	Q9BUF5	TBB6_HUMAN		4	1340	+			B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	1	1	hg19	c.1106G>A	CCDS11858.1	1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490287	0.64074	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.82433	-1.61	5.5	5.5	0.81552	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97688	1.0177	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	341;369	B4DP54;Q9BUF5	.;TBB6_HUMAN	D	369;297;341	ENSP00000318697:G369D	ENSP00000318697:G369D	G	+	2	0	0	TUBB6	12315894	12315894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	1	0	1		2	2	2	0		0	0	256		256	255	1	2.060000	-20.000000	1	0.170000	NM_032525			224	223		935	920	1		1	1		0	0	256	0		1	1	0	51	0	312	0	224	935
AFG3L2	10939	broad.mit.edu	37	18	12353089	12353089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	411					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527																																						ENST00000269143.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1231-1233)gcG>gcA		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						197.0	151.0	167.0					18																	12353089		2203	4300	6503	SO:0001819	synonymous_variant	10939	1	121412	32				g.chr18:12353089C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1233G>A	chr18.hg19:g.12353089C>T		0						p.A411A	NM_006796.2	NP_006787.2	0	1	1	1.988234	Q9Y4W6	AFG32_HUMAN		10	1464	-			Q6P1L0	Silent	SNP	ENST00000269143.3	1	1	hg19	c.1233G>A	CCDS11859.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-2.647932	1	0.170000	NM_006796			108	108		509	486	1		1	1		0	0	102	0		1	1	0	58	0	194	0	108	509
AFG3L2	10939	broad.mit.edu	37	18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	319					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398																																						ENST00000269143.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(955-957)gaG>gaT		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						89.0	80.0	83.0					18																	12358738		2203	4300	6503	SO:0001583	missense	10939	0	0					g.chr18:12358738C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.957G>T	chr18.hg19:g.12358738C>A	ENSP00000269143:p.Glu319Asp	0						p.E319D	NM_006796.2	NP_006787.2	0	1	1	1.988234	Q9Y4W6	AFG32_HUMAN		8	1188	-			Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	1	1	hg19	c.957G>T	CCDS11859.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179849	0.57800	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57107	0.42	5.76	0.779	0.18550	5.76	0.779	0.18550	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.80183	2.485	0.58432	D	0.999997	P	0.37864	0.61	B	0.36534	0.227	T	0.55398	-0.8147	10	0.87932	D	0	.	10.1341	0.42695	0.0:0.6623:0.0:0.3377	.	319	Q9Y4W6	AFG32_HUMAN	D	319;334	ENSP00000269143:E319D	ENSP00000269143:E319D	E	-	3	2	2	AFG3L2	12348738	12348738	0.998000	0.40836	0.988000	0.46212	0.984000	0.73092	0.611000	0.24268	0.069000	0.16605	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_006796			66	65		238	237	1		1	1		0	0	72	0		1	1	0	66	0	165	0	66	238
AFG3L2	10939	broad.mit.edu	37	18	12367285	12367285	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12367285C>A	ENST00000269143.3	-	4	620	c.389G>T	c.(388-390)aGg>aTg	p.R130M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	130					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTTCTGAAACCTGGACCACCA	0.488																																						ENST00000269143.3	0.400000	0.130000	3.300000e-01	1.800000e-01	0.240000	0.259854	0.240000	0.240000																										0				27						c.(388-390)aGg>aTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						183.0	169.0	174.0					18																	12367285		2203	4300	6503	SO:0001583	missense	10939	0	0					g.chr18:12367285C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.389G>T	chr18.hg19:g.12367285C>A	ENSP00000269143:p.Arg130Met	0						p.R130M	NM_006796.2	NP_006787.2	0	1	1	1.988234	Q9Y4W6	AFG32_HUMAN		4	620	-			Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	0	1	hg19	c.389G>T	CCDS11859.1	0	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923707	0.92319	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93247	-3.19	5.72	5.72	0.89469	5.72	5.72	0.89469	Peptidase M41, FtsH (1);	0.044203	0.85682	D	0.000000	D	0.95373	0.8498	M	0.75777	2.31	0.80722	D	1	D	0.56287	0.975	P	0.53593	0.73	D	0.94306	0.7541	10	0.38643	T	0.18	1.8025	19.4597	0.94912	0.0:1.0:0.0:0.0	.	130	Q9Y4W6	AFG32_HUMAN	M	130;145	ENSP00000269143:R130M	ENSP00000269143:R130M	R	-	2	0	0	AFG3L2	12357285	12357285	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.641000	0.74324	2.702000	0.92279	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	0	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-2.370575	0	0.170000	NM_006796			12	11		567	546	0		1	1		0	0	119	0		9.988973e-01	9.761360e-01	0	15	0	283	0	12	567
CEP76	79959	broad.mit.edu	37	18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000262127.2	-	8	1316	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PSMG2_ENST00000589405.1_3'UTR|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	364					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)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCAGAGTGCACCACTGCTC	0.408																																						ENST00000262127.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1090-1092)tGc>tAc		centrosomal protein 76kDa							93.0	86.0	88.0					18																	12686292		2203	4300	6503	SO:0001583	missense	79959	0	0					g.chr18:12686292C>T	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.1091G>A	chr18.hg19:g.12686292C>T	ENSP00000262127:p.Cys364Tyr	0					PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|PSMG2_ENST00000589405.1_3'UTR	p.C364Y	NM_024899.2	NP_079175.2	0	1	1	1.988234	Q8TAP6	CEP76_HUMAN		8	1316	-			B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	1	1	hg19	c.1091G>A	CCDS11861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329103	0.41197	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.34	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.086622	0.85682	D	0.000000	T	0.79941	0.4533	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.47302	0.893;0.63;0.456	P;B;B	0.45310	0.476;0.142;0.188	T	0.76672	-0.2873	10	0.02654	T	1	-9.2993	19.9135	0.97033	0.0:1.0:0.0:0.0	.	289;364;186	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	Y	364;289	ENSP00000262127:C364Y;ENSP00000403074:C289Y	ENSP00000262127:C364Y	C	-	2	0	0	CEP76	12676292	12676292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.711000	0.92665	0.591000	0.81541	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.339815	1	0.170000	NM_024899			59	58		300	298	1		1	1		0	0	57	0		1	8.415399e-01	0	6	0	13	0	59	300
CEP76	79959	broad.mit.edu	37	18	12699159	12699159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	113					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)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363																																						ENST00000262127.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999381	0.990000	1.000000																										0				21						c.(337-339)ttG>ttA		centrosomal protein 76kDa							102.0	100.0	101.0					18																	12699159		2203	4300	6503	SO:0001819	synonymous_variant	79959	0	0					g.chr18:12699159C>T	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.339G>A	chr18.hg19:g.12699159C>T		0					PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	p.L113L	NM_024899.2	NP_079175.2	0	1	1	1.988234	Q8TAP6	CEP76_HUMAN		4	564	-			B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	1	1	hg19	c.339G>A	CCDS11861.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-2.559136	1	0.170000	NM_024899			45	45		331	326	1		1	0		0	0	83	0		1	5.561367e-01	0	1	0	14	0	45	331
PTPN2	5771	broad.mit.edu	37	18	12825835	12825835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12825835G>A	ENST00000309660.5	-	5	562	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	157	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TGTAGTAGATGTACTGTATAA	0.338																																						ENST00000309660.5	0.720000	0.220000	5.700000e-01	3.100000e-01	0.420000	0.448783	0.420000	0.410000																										0				13						c.(469-471)Cat>Tat		protein tyrosine phosphatase, non-receptor type 2							99.0	92.0	94.0					18																	12825835		2203	4299	6502	SO:0001583	missense	5771	0	0					g.chr18:12825835G>A	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.469C>T	chr18.hg19:g.12825835G>A	ENSP00000311857:p.His157Tyr	0					PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y	p.H157Y	NM_002828.3	NP_002819.2	0	1	1	1.988234	P17706	PTN2_HUMAN		5	562	-		Lung NSC(161;8.94e-06)	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	1	1	hg19	c.469C>T	CCDS11865.1	0	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304357	0.60305	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	4.38	4.38	0.52667	4.38	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000185	D	0.84074	0.5392	N	0.17312	0.475	0.39042	D	0.960154	P;P;B;D;P	0.64830	0.755;0.712;0.268;0.994;0.755	P;P;B;D;P	0.67548	0.649;0.517;0.432;0.952;0.649	D	0.88039	0.2780	10	0.87932	D	0	.	17.5512	0.87876	0.0:0.0:1.0:0.0	.	157;157;134;157;157	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	Y	157;157;134;157	ENSP00000320298:H157Y;ENSP00000320546:H157Y;ENSP00000311857:H157Y	ENSP00000311857:H157Y	H	-	1	0	0	PTPN2	12815835	12815835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.597000	0.61062	2.424000	0.82194	0.558000	0.71614	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	0	0	1		2	2	2	0		0	0	52		52	54	1	2.060000	-11.189720	1	0.170000	NM_002828, NM_080422, NM_080423			10	10		270	263	0		1	1		0	0	52	0		9.966162e-01	8.577855e-01	0	2	0	95	0	10	270
CEP192	55125	broad.mit.edu	37	18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000325971.8	+	19	4235	c.2642C>T	c.(2641-2643)gCa>gTa	p.A881V	CEP192_ENST00000506447.1_Missense_Mutation_p.A1477V|CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	881					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)			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						ATCGTACAGGCAGAAGCTTTG	0.453																																						ENST00000325971.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2641-2643)gCa>gTa		centrosomal protein 192kDa							158.0	146.0	150.0					18																	13059253		2203	4300	6503	SO:0001583	missense	55125	0	0					g.chr18:13059253C>T	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.2642C>T	chr18.hg19:g.13059253C>T	ENSP00000317156:p.Ala881Val	0					CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V|CEP192_ENST00000506447.1_Missense_Mutation_p.A1477V	p.A881V			0	1	1	1.988234	Q8TEP8	CE192_HUMAN		19	4235	+			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	1	1	hg19	c.2642C>T		1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348313	0.61183	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80033	-1.33;-1.33;-1.33	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000005	D	0.88355	0.6414	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.989;0.998	P;P;D	0.65233	0.874;0.879;0.933	D	0.89379	0.3680	10	0.72032	D	0.01	-16.2963	18.8382	0.92171	0.0:1.0:0.0:0.0	.	1002;1477;881	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	1477;881;881;1002	ENSP00000427550:A1477V;ENSP00000317156:A881V;ENSP00000389190:A1002V	ENSP00000317156:A881V	A	+	2	0	0	CEP192	13049253	13049253	1.000000	0.71417	0.365000	0.25901	0.011000	0.07611	7.223000	0.78033	2.520000	0.84964	0.591000	0.81541	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	105		105	103	1	2.060000	-3.438015	1	0.170000	NM_032142			110	106		455	445	1		1	1		0	0	105	0		1	9.327376e-01	0	3	0	18	0	110	455
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000325971.8	+	19	4255	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	888					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.V888I(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						GGCCAGCACCGTCACTCTCAC	0.458																																						ENST00000325971.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V888I(1)	ovary(1)	71						c.(2662-2664)Gtc>Atc		centrosomal protein 192kDa							148.0	136.0	140.0					18																	13059273		2203	4300	6503	SO:0001583	missense	55125	8	121412	40				g.chr18:13059273G>A	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.2662G>A	chr18.hg19:g.13059273G>A	ENSP00000317156:p.Val888Ile	0					CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I	p.V888I			0	1	1	1.988234	Q8TEP8	CE192_HUMAN		19	4255	+			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	1	1	hg19	c.2662G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	0	CEP192	13049273	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_032142			87	85		425	416	1		1	1		0	0	85	0		1	9.864834e-01	0	8	0	27	0	87	425
CEP192	55125	broad.mit.edu	37	18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000325971.8	+	23	4699	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	CEP192_ENST00000506447.1_Missense_Mutation_p.V1632I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1036					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)			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						CCCTACGCCCGTTCTTAGAAG	0.473																																						ENST00000325971.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(3106-3108)Gtt>Att		centrosomal protein 192kDa		G	ILE/VAL	0,4406		0,0,2203	116.0	115.0	115.0		4894	2.0	0.0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1632/2538	13068922	1,13005	2203	4300	6503	SO:0001583	missense	55125	1	121412	37				g.chr18:13068922G>A	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.3106G>A	chr18.hg19:g.13068922G>A	ENSP00000317156:p.Val1036Ile	0					CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1632I	p.V1036I			0	1	1	1.988234	Q8TEP8	CE192_HUMAN		23	4699	+			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	1	1	hg19	c.3106G>A		1	.	.	.	.	.	.	.	.	.	.	G	7.910	0.736223	0.15574	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.58060	0.36;0.36;0.36	5.77	2.03	0.26663	5.77	2.03	0.26663	.	0.287772	0.32852	N	0.005567	T	0.31231	0.0790	L	0.38175	1.15	0.24190	N	0.995551	P;P;B	0.44627	0.725;0.839;0.108	B;B;B	0.31946	0.073;0.138;0.029	T	0.23691	-1.0181	10	0.14252	T	0.57	-3.5773	9.756	0.40504	0.3947:0.0:0.6053:0.0	.	1157;1632;234	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1632;1036;1036;1157	ENSP00000427550:V1632I;ENSP00000317156:V1036I;ENSP00000389190:V1157I	ENSP00000317156:V1036I	V	+	1	0	0	CEP192	13058922	13058922	0.936000	0.31750	0.027000	0.17364	0.003000	0.03518	1.456000	0.35201	0.472000	0.27344	-0.749000	0.03505	GTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_032142			113	112		458	450	1		1	1		0	0	115	0		1	9.976388e-01	0	10	0	29	0	113	458
MC5R	4161	broad.mit.edu	37	18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	165					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567																																						ENST00000324750.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(493-495)gGc>gAc		melanocortin 5 receptor							268.0	243.0	252.0					18																	13826258		2203	4300	6503	SO:0001583	missense	4161	0	0					g.chr18:13826258G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.494G>A	chr18.hg19:g.13826258G>A	ENSP00000318077:p.Gly165Asp	0					AP001525.1_ENST00000390194.2_RNA	p.G165D	NM_005913.2	NP_005904.1	0	1	1	1.988234	P33032	MC5R_HUMAN		1	716	+			B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	1	1	hg19	c.494G>A	CCDS11868.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944955	0.34283	.	.	ENSG00000176136	ENST00000324750	T	0.39787	1.06	5.01	3.14	0.36123	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.150554	0.64402	D	0.000011	T	0.52075	0.1712	M	0.81341	2.54	0.33894	D	0.637674	P	0.44006	0.824	P	0.46299	0.511	T	0.69154	-0.5220	10	0.87932	D	0	.	12.9262	0.58262	0.0:0.0:0.705:0.295	.	165	P33032	MC5R_HUMAN	D	165	ENSP00000318077:G165D	ENSP00000318077:G165D	G	+	2	0	0	MC5R	13816258	13816258	1.000000	0.71417	0.488000	0.27440	0.041000	0.13682	5.258000	0.65479	0.459000	0.27016	0.455000	0.32223	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	1	0	1		2	2	2	0		0	0	316		316	312	1	2.060000	-20.000000	1	0.170000	NM_005913			412	406		1647	1627	0		1			0	0	316	0		1	0	0	0	0	0	0	412	1647
MC2R	4158	broad.mit.edu	37	18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	243					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)			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)	GGGCAGAATGTCATCAAGAGG	0.532																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(727-729)Aca>Gca		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						82.0	75.0	77.0					18																	13884791		2203	4300	6503	SO:0001583	missense	4158	0	0					g.chr18:13884791T>C		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.727A>G	chr18.hg19:g.13884791T>C	ENSP00000333821:p.Thr243Ala	0						p.T243A	NM_000529.2	NP_000520.1	0	1	1	1.988234	Q01718	ACTHR_HUMAN		2	907	-			A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	1	1	hg19	c.727A>G	CCDS11869.1	1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013816	0.54468	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.18	4.01	0.46588	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.206931	0.49916	D	0.000128	T	0.25938	0.0632	N	0.25144	0.715	0.26256	N	0.978658	P	0.39424	0.673	B	0.40702	0.338	T	0.10730	-1.0617	10	0.66056	D	0.02	.	8.1081	0.30898	0.0:0.1569:0.0:0.8431	.	243	Q01718	ACTHR_HUMAN	A	243	ENSP00000333821:T243A	ENSP00000333821:T243A	T	-	1	0	0	MC2R	13874791	13874791	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.002000	0.49496	0.806000	0.34183	0.533000	0.62120	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				51	51		278	275	1		1			0	0	70	0		1	0	0	0	0	0	0	51	278
MC2R	4158	broad.mit.edu	37	18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	231					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)			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)	AGGGGGCCCAGCAGAAGATGA	0.557																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(691-693)tgC>tgA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						75.0	67.0	70.0					18																	13884825		2203	4300	6503	SO:0001587	stop_gained	4158	0	0					g.chr18:13884825G>T		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.693C>A	chr18.hg19:g.13884825G>T	ENSP00000333821:p.Cys231*	0						p.C231*	NM_000529.2	NP_000520.1	0	1	1	1.988234	Q01718	ACTHR_HUMAN		2	873	-			A8K016|Q3MI45|Q504X6	Nonsense_Mutation	SNP	ENST00000327606.3	0	1	hg19	c.693C>A	CCDS11869.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843803	0.91197	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	5.18	-7.84	0.01196	5.18	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.112	0.93319	0.3369:0.0:0.6631:0.0	.	.	.	.	X	231	.	ENSP00000333821:C231X	C	-	3	2	2	MC2R	13874825	13874825	0.045000	0.20229	0.881000	0.34555	0.989000	0.77384	-0.731000	0.04909	-1.429000	0.01987	-0.302000	0.09304	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				48	46		230	226	1		1	0		0	0	59	0		1	0	0	0	0	1	0	48	230
USP14	9097	broad.mit.edu	37	18	163369	163369	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGAACCTCCAATGGTATTCA	0.373																																						ENST00000261601.7			0	0																														0				11						c.(76-78)ccA>ccG		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							68.0	68.0	68.0					18																	163369		2203	4300	6503	SO:0001819	synonymous_variant	9097	0	0					g.chr18:163369A>G	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.78A>G	chr18.hg19:g.163369A>G							USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	p.P26P	NM_005151.3	NP_005142.1					P54578	UBP14_HUMAN		2	169	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	1	1	hg19	c.78A>G	CCDS32780.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005151			50	50		182	181	1		1	1		0	0	43	0		1	1	0	28	0	115	0	50	182
ZNF519	162655	broad.mit.edu	37	18	14105441	14105441	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	ENST00000590202.1	-	3	1250	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	366					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATTCTCTGGTGTTGAGTAA	0.423																																						ENST00000590202.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1096-1098)caC>caT		zinc finger protein 519							121.0	123.0	123.0					18																	14105441		2203	4300	6503	SO:0001819	synonymous_variant	162655	0	0					g.chr18:14105441G>A	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.1098C>T	chr18.hg19:g.14105441G>A		0					RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.H366H	NM_145287.3	NP_660330.2	0	1	1	1.988234	Q8TB69	ZN519_HUMAN		3	1250	-				Silent	SNP	ENST00000590202.1	1	0	hg19	c.1098C>T	CCDS32797.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_145287			115	112		545	529	1		1	1		0	0	164	0		1	2.841851e-01	0	2	0	4	0	115	545
ROCK1	6093	broad.mit.edu	37	18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	494	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)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313																																						ENST00000399799.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				16						c.(1480-1482)aGa>aTa		Rho-associated, coiled-coil containing protein kinase 1							140.0	120.0	127.0					18																	18588085		2201	4296	6497	SO:0001583	missense	6093	0	0					g.chr18:18588085C>A		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.1481G>T	chr18.hg19:g.18588085C>A	ENSP00000382697:p.Arg494Ile	0						p.R494I	NM_005406.2	NP_005397.1	0	1	1	1.988234	Q13464	ROCK1_HUMAN		14	2421	-	Melanoma(1;0.165)		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	1	1	hg19	c.1481G>T	CCDS11870.2	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450332	0.84101	.	.	ENSG00000067900	ENST00000399799	D	0.82619	-1.63	5.46	3.69	0.42338	5.46	3.69	0.42338	.	0.055889	0.64402	D	0.000001	T	0.79551	0.4465	L	0.47716	1.5	0.58432	D	0.999997	B	0.28178	0.202	B	0.36335	0.222	T	0.76740	-0.2848	10	0.62326	D	0.03	.	10.0434	0.42173	0.0:0.7669:0.0:0.2331	.	494	Q13464	ROCK1_HUMAN	I	494	ENSP00000382697:R494I	ENSP00000382697:R494I	R	-	2	0	0	ROCK1	16842083	16842083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	0.872000	0.35775	0.591000	0.81541	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_005406			32	30		151	148	1		1	1		0	0	45	0		1	1	0	44	0	177	0	32	151
ROCK1	6093	broad.mit.edu	37	18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	304	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)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTGATATGTCATTATCATCA	0.313																																						ENST00000399799.2	0.650000	0.240000	5.400000e-01	3.200000e-01	0.420000	0.436831	0.420000	0.410000																										0				16						c.(910-912)Gac>Aac		Rho-associated, coiled-coil containing protein kinase 1							80.0	81.0	81.0					18																	18622107		2202	4294	6496	SO:0001583	missense	6093	0	0					g.chr18:18622107C>T		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.910G>A	chr18.hg19:g.18622107C>T	ENSP00000382697:p.Asp304Asn	0						p.D304N	NM_005406.2	NP_005397.1	0	1	1	1.988234	Q13464	ROCK1_HUMAN		8	1850	-	Melanoma(1;0.165)		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	1	1	hg19	c.910G>A	CCDS11870.2	0	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819112	0.90873	.	.	ENSG00000067900	ENST00000399799	T	0.65178	-0.14	5.36	5.36	0.76844	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048434	0.85682	D	0.000000	T	0.44222	0.1283	N	0.03891	-0.335	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.42899	-0.9424	10	0.87932	D	0	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	304	Q13464	ROCK1_HUMAN	N	304	ENSP00000382697:D304N	ENSP00000382697:D304N	D	-	1	0	0	ROCK1	16876105	16876105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.774000	0.95407	0.655000	0.94253	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.605575	1	0.170000	NM_005406			15	15		407	401	0		1	1		0	0	75	0		9.998628e-01	9.232243e-01	0	4	0	118	0	15	407
ESCO1	114799	broad.mit.edu	37	18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	596					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)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313																																						ENST00000269214.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999321	0.990000	1.000000																										0				35						c.(1786-1788)Gaa>Taa		establishment of sister chromatid cohesion N-acetyltransferase 1							111.0	103.0	105.0					18																	19144199		2203	4299	6502	SO:0001587	stop_gained	114799	0	0					g.chr18:19144199C>A	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.1786G>T	chr18.hg19:g.19144199C>A	ENSP00000269214:p.Glu596*	0						p.E596*	NM_052911.2	NP_443143.2	0	1	1	1.988234	Q5FWF5	ESCO1_HUMAN		7	2723	-			B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	0	1	hg19	c.1786G>T	CCDS32800.1	1	.	.	.	.	.	.	.	.	.	.	C	47	13.135262	0.99722	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.348404	0.30193	N	0.010188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.8435	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000269214:E596X	E	-	1	0	0	ESCO1	17398197	17398197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_052911			15	15		69	68	1		1	1		0	0	20	0		9.999168e-01	9.962622e-01	0	4	0	43	0	15	69
ESCO1	114799	broad.mit.edu	37	18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	547					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)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328																																						ENST00000269214.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1639-1641)ttT>ttG		establishment of sister chromatid cohesion N-acetyltransferase 1							72.0	72.0	72.0					18																	19147945		2202	4300	6502	SO:0001583	missense	114799	0	0					g.chr18:19147945A>C	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.1641T>G	chr18.hg19:g.19147945A>C	ENSP00000269214:p.Phe547Leu	0						p.F547L	NM_052911.2	NP_443143.2	0	1	1	1.988234	Q5FWF5	ESCO1_HUMAN		5	2578	-			B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	1	1	hg19	c.1641T>G	CCDS32800.1	1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055098	0.36277	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57436	0.4;1.96	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.289111	0.30695	N	0.009075	T	0.46580	0.1400	L	0.57536	1.79	0.31686	N	0.642527	B	0.06786	0.001	B	0.04013	0.001	T	0.50524	-0.8818	10	0.24483	T	0.36	-5.9452	10.3972	0.44207	0.8546:0.0:0.0:0.1454	.	547	Q5FWF5	ESCO1_HUMAN	L	547	ENSP00000269214:F547L;ENSP00000372763:F547L	ENSP00000269214:F547L	F	-	3	2	2	ESCO1	17401943	17401943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.733000	0.47360	2.260000	0.74910	0.528000	0.53228	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_052911			85	85		300	293	0		1	1		0	0	61	0		1	9.999296e-01	0	12	0	40	0	85	300
ESCO1	114799	broad.mit.edu	37	18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	78					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)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323																																						ENST00000269214.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(232-234)aAa>aCa		establishment of sister chromatid cohesion N-acetyltransferase 1							164.0	172.0	169.0					18																	19154572		2203	4300	6503	SO:0001583	missense	114799	0	0					g.chr18:19154572T>G	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.233A>C	chr18.hg19:g.19154572T>G	ENSP00000269214:p.Lys78Thr	0						p.K78T	NM_052911.2	NP_443143.2	0	1	1	1.988234	Q5FWF5	ESCO1_HUMAN		4	1170	-			B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	1	1	hg19	c.233A>C	CCDS32800.1	1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470443	0.04445	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.66	5.73	3.32	0.38043	5.73	3.32	0.38043	.	0.327087	0.28778	N	0.014166	T	0.41880	0.1178	L	0.40543	1.245	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.21930	-1.0231	10	0.17369	T	0.5	-5.9998	6.6306	0.22855	0.1365:0.0721:0.0:0.7914	.	78	Q5FWF5	ESCO1_HUMAN	T	78	ENSP00000269214:K78T;ENSP00000372763:K78T	ENSP00000269214:K78T	K	-	2	0	0	ESCO1	17408570	17408570	0.998000	0.40836	0.005000	0.12908	0.039000	0.13416	1.947000	0.40293	0.515000	0.28320	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	1		2	2	2	0		0	0	178		178	177	1	2.060000	-20.000000	1	0.170000	NM_052911			206	204		820	810	1		1	1		0	0	178	0		1	9.997741e-01	0	14	0	36	0	206	820
ABHD3	171586	broad.mit.edu	37	18	19283700	19283700	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	57						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CGGTCACTAACTGGGGTTTCT	0.562																																						ENST00000289119.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				10						c.(169-171)caG>caA		abhydrolase domain containing 3							52.0	52.0	52.0					18																	19283700		2203	4300	6503	SO:0001819	synonymous_variant	171586	0	0					g.chr18:19283700C>T	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.171G>A	chr18.hg19:g.19283700C>T		0					ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Q57Q	p.Q57Q	NM_138340.4	NP_612213.2	0	1	1	1.988234	Q8WU67	ABHD3_HUMAN		2	310	-			B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	1	1	hg19	c.171G>A	CCDS32802.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000				38	37		228	224	1		1	1		0	0	60	0		1	9.998840e-01	0	23	0	62	0	38	228
USP14	9097	broad.mit.edu	37	18	197615	197615	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000582707.1_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACATTACAGGATGCTAATG	0.338																																						ENST00000261601.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999900	0.990000	1.000000																										0				11						c.e8-1		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							118.0	122.0	120.0					18																	197615		2203	4299	6502	SO:0001630	splice_region_variant	9097	0	0					g.chr18:197615G>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.595-1G>T	chr18.hg19:g.197615G>T		0					USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000582707.1_Splice_Site		NM_005151.3	NP_005142.1	1	2	3	2.007506	P54578	UBP14_HUMAN		8	685	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	J3QRZ5|Q53XY5	Splice_Site	SNP	ENST00000261601.7	1	1	hg19		CCDS32780.1	1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475467	0.63737	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	USP14	187615	187615	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-2.970502	1	0.170000	NM_005151	Intron		34	34		209	209	1		1	0		0	0	38	0		1	2.090592e-02	0	1	0	1	0	34	209
MIB1	57534	broad.mit.edu	37	18	19437203	19437203	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	926					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383																																						ENST00000261537.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				27						c.(2776-2778)atC>atT		mindbomb E3 ubiquitin protein ligase 1							232.0	180.0	198.0					18																	19437203		2203	4300	6503	SO:0001630	splice_region_variant	57534	0	0					g.chr18:19437203C>T	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.2779+1C>T	chr18.hg19:g.19437203C>T		0					MIB1_ENST00000578646.1_3'UTR	p.I926I	NM_020774.2	NP_065825.1	0	1	1	1.988234	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)	19	3042	+			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Splice_Site	SNP	ENST00000261537.6	1	0	hg19	c.2778C>T	CCDS11871.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.067359	1	0.170000	NM_020774	Silent		39	39		182	176	1		1	1		0	0	37	0		1	9.999986e-01	0	15	0	86	0	39	182
RBBP8	5932	broad.mit.edu	37	18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	536	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468								Homologous recombination																														ENST00000399722.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1606-1608)Cgt>Tgt	Homologous recombination	retinoblastoma binding protein 8							39.0	41.0	41.0					18																	20573396		2202	4299	6501	SO:0001583	missense	5932	0	0					g.chr18:20573396C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1606C>T	chr18.hg19:g.20573396C>T	ENSP00000382628:p.Arg536Cys	0					RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	p.R536C	NM_203291.1	NP_976036.1	0	1	1	1.988234	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)	11	1957	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	1	1	hg19	c.1606C>T	CCDS11875.1	1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015832	0.19355	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.34667	1.38;1.35;1.38;1.37;1.38	5.97	2.82	0.32997	5.97	2.82	0.32997	.	0.620350	0.16787	N	0.199531	T	0.33147	0.0853	L	0.55481	1.735	0.40353	D	0.979157	B;B;B	0.19817	0.018;0.014;0.039	B;B;B	0.10450	0.005;0.002;0.005	T	0.25502	-1.0130	10	0.87932	D	0	-0.5355	10.2979	0.43635	0.0:0.7571:0.0:0.2429	.	536;536;536	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	536	ENSP00000323050:R536C;ENSP00000382630:R536C;ENSP00000382628:R536C;ENSP00000382627:R536C;ENSP00000354024:R536C	ENSP00000323050:R536C	R	+	1	0	0	RBBP8	18827394	18827394	0.002000	0.14202	0.674000	0.29902	0.466000	0.32739	0.826000	0.27407	0.864000	0.35578	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	1	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-3.140394	1	0.170000	NM_203291			55	54		219	208	1		1	1		0	0	70	0		1	1	0	37	0	81	0	55	219
CABLES1	91768	broad.mit.edu	37	18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	218	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701																																						ENST00000256925.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.997589	0.990000	1.000000																										0				11						c.(652-654)caG>caT		Cdk5 and Abl enzyme substrate 1							14.0	18.0	17.0					18																	20716380		1902	4096	5998	SO:0001583	missense	91768	0	0					g.chr18:20716380G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.654G>T	chr18.hg19:g.20716380G>T	ENSP00000256925:p.Gln218His	0					AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	p.Q218H	NM_001100619.2	NP_001094089.1	0	1	1	1.988234	Q8TDN4	CABL1_HUMAN		1	654	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	0	1	hg19	c.654G>T	CCDS42417.1	1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262652	0.39995	.	.	ENSG00000134508	ENST00000256925	T	0.50277	0.75	3.54	1.59	0.23543	3.54	1.59	0.23543	.	0.350198	0.29707	N	0.011403	T	0.30386	0.0763	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05818	-1.0862	10	0.29301	T	0.29	-0.8505	10.6056	0.45392	0.0:0.3801:0.6199:0.0	.	218	Q8TDN4	CABL1_HUMAN	H	218	ENSP00000256925:Q218H	ENSP00000256925:Q218H	Q	+	3	2	2	CABLES1	18970378	18970378	0.996000	0.38824	1.000000	0.80357	0.746000	0.42486	0.386000	0.20702	0.264000	0.21851	0.456000	0.33151	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	1	0	0		2	2	2	0		0	0	14		14	13	1	2.060000	-19.999590	1	0.170000	NM_138375			13	13		68	67	0		1	0		0	0	14	0		9.996586e-01	5.122737e-01	0	0	0	10	0	13	68
CABLES1	91768	broad.mit.edu	37	18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	436	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTCCATAGGCCGGGCAAG	0.597																																						ENST00000256925.7	0.490000	0.190000	4.100000e-01	2.500000e-01	0.320000	0.336703	0.320000	0.320000																										0				11						c.(1306-1308)Ggc>Tgc		Cdk5 and Abl enzyme substrate 1							59.0	66.0	64.0					18																	20815979		1918	4119	6037	SO:0001583	missense	91768	0	0					g.chr18:20815979G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1306G>T	chr18.hg19:g.20815979G>T	ENSP00000256925:p.Gly436Cys	0					CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron	p.G436C	NM_001100619.2	NP_001094089.1	0	1	1	1.988234	Q8TDN4	CABL1_HUMAN		6	1306	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	1	1	hg19	c.1306G>T	CCDS42417.1	0	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682669	0.88542	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46819	0.92;0.86;0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.099785	0.64402	D	0.000002	T	0.63698	0.2533	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76575	0.823;0.988	T	0.65455	-0.6164	10	0.62326	D	0.03	-14.8556	18.3672	0.90396	0.0:0.0:1.0:0.0	.	171;436	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	C	109;436;171	ENSP00000383321:G109C;ENSP00000256925:G436C;ENSP00000413851:G171C	ENSP00000256925:G436C	G	+	1	0	0	CABLES1	19069977	19069977	1.000000	0.71417	0.423000	0.26634	0.849000	0.48306	9.386000	0.97228	2.571000	0.86741	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.547395	1	0.170000	NM_138375			18	18		636	627	0		1	0		0	0	88	0		9.999793e-01	2.161827e-01	0	1	0	29	0	18	636
RIOK3	8780	broad.mit.edu	37	18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000339486.3	+	8	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	326	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGATCATCCGCATGTGGGCA	0.323																																						ENST00000339486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(976-978)cGc>cAc		RIO kinase 3							60.0	56.0	58.0					18																	21053554		2203	4300	6503	SO:0001583	missense	8780	1	121410	36				g.chr18:21053554G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.977G>A	chr18.hg19:g.21053554G>A	ENSP00000341874:p.Arg326His	0					RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	p.R326H	NM_003831.3	NP_003822.2	0	1	1	1.988234	O14730	RIOK3_HUMAN		8	1594	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	1	1	hg19	c.977G>A	CCDS11877.1	1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282646	0.59867	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.05	5.05	0.67936	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.35288	1.05	0.80722	D	1	P;P;P	0.44260	0.55;0.796;0.83	B;B;B	0.30943	0.084;0.074;0.122	T	0.32079	-0.9920	10	0.41790	T	0.15	.	18.4658	0.90753	0.0:0.0:1.0:0.0	.	310;326;326	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	H	326	ENSP00000341874:R326H	ENSP00000341874:R326H	R	+	2	0	0	RIOK3	19307552	19307552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.941000	0.87700	2.350000	0.79820	0.579000	0.79373	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.999950	1	0.170000	NM_003831			38	38		145	144	1		1	1		0	0	33	0		1	1	0	71	0	194	0	38	145
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Silent	SNP	C	C	T	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000339486.3	+	11	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413																																						ENST00000339486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1300-1302)caC>caT		RIO kinase 3							156.0	138.0	144.0					18																	21057190		2203	4300	6503	SO:0001819	synonymous_variant	8780	6	121412	42				g.chr18:21057190C>T	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1302C>T	chr18.hg19:g.21057190C>T		0					RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	p.H434H	NM_003831.3	NP_003822.2	0	1	1	1.988234	O14730	RIOK3_HUMAN		11	1919	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q8IXN9	Silent	SNP	ENST00000339486.3	1	1	hg19	c.1302C>T	CCDS11877.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_003831			101	99		386	379	1		1	1		0	0	98	0		1	1	0	53	0	168	0	101	386
C18orf8	29919	broad.mit.edu	37	18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000269221.3	+	1	178	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	23						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGAACCCTGTCAACTGCGTC	0.741																																						ENST00000269221.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(67-69)gTc>gCc		chromosome 18 open reading frame 8							45.0	46.0	46.0					18																	21083650		2203	4300	6503	SO:0001583	missense	29919	0	0					g.chr18:21083650T>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.68T>C	chr18.hg19:g.21083650T>C	ENSP00000269221:p.Val23Ala	0					C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	p.V23A	NM_013326.3	NP_037458.3	0	1	1	1.988234	Q96DM3	MIC1_HUMAN		1	178	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	1	1	hg19	c.68T>C	CCDS32803.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980534	0.74474	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.15834	2.39	4.54	3.39	0.38822	4.54	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.24721	0.067;0.11	B;B	0.17433	0.008;0.018	T	0.03619	-1.1019	10	0.07644	T	0.81	-28.803	9.3776	0.38292	0.0:0.0858:0.0:0.9142	.	23;23	Q96DM3;F5H2W0	MIC1_HUMAN;.	A	23	ENSP00000269221:V23A	ENSP00000269221:V23A	V	+	2	0	0	C18orf8	19337648	19337648	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.103000	0.64578	1.675000	0.50919	0.460000	0.39030	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	1	0	1		21	2	2	0		0	1	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_013326			58	58		307	305	0		1	1		0	0	54	0		9.999976e-01	9.986934e-01	0	15	0	40	0	58	307
C18orf8	29919	broad.mit.edu	37	18	21084355	21084355	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000269221.3	+	2	233	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000590868.1_Silent_p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	41						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCGATCTGGTGGAGCTACTG	0.433																																						ENST00000269221.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(121-123)ggT>ggC		chromosome 18 open reading frame 8							217.0	191.0	200.0					18																	21084355		2203	4300	6503	SO:0001819	synonymous_variant	29919	0	0					g.chr18:21084355T>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.123T>C	chr18.hg19:g.21084355T>C		0					C18orf8_ENST00000590868.1_Silent_p.G41G	p.G41G	NM_013326.3	NP_037458.3	0	1	1	1.988234	Q96DM3	MIC1_HUMAN		2	233	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	1	1	hg19	c.123T>C	CCDS32803.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	0	0	1		2	3	2	1		1	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_013326			111	106		506	490	1		1	1		1	0	143	0		1	9.993065e-01	0	12	0	50	0	111	506
C18orf8	29919	broad.mit.edu	37	18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000269221.3	+	13	1215	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	369						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAGTAAATCTCTTACCAGA	0.428																																						ENST00000269221.3	1.000000	0.670000	1	8.100000e-01	0.960000	0.923873	0.960000	1.000000																										0				21						c.(1105-1107)Ctc>Atc		chromosome 18 open reading frame 8							88.0	83.0	85.0					18																	21106645		2203	4300	6503	SO:0001583	missense	29919	1	121412	30				g.chr18:21106645C>A	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1105C>A	chr18.hg19:g.21106645C>A	ENSP00000269221:p.Leu369Ile	0					C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	p.L369I	NM_013326.3	NP_037458.3	0	1	1	1.988234	Q96DM3	MIC1_HUMAN		13	1215	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	1	1	hg19	c.1105C>A	CCDS32803.1	1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574645	0.65878	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.61387	1.9	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.46992	-0.9151	9	0.32370	T	0.25	-20.1358	11.832	0.52301	0.0:0.9194:0.0:0.0806	.	369	Q96DM3	MIC1_HUMAN	I	369;212;321;212	.	ENSP00000269221:L369I	L	+	1	0	0	C18orf8	19360643	19360643	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.630000	0.61297	2.407000	0.81776	0.655000	0.94253	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_013326			31	31		344	340	0		1	1		0	0	62	0		1	9.984667e-01	0	10	0	102	0	31	344
NPC1	4864	broad.mit.edu	37	18	21116663	21116663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21116663G>A	ENST00000269228.5	-	21	3773	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	NPC1_ENST00000412552.2_Silent_p.G755G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1073					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)			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)					GGTAGGCACTGCCGTTAATGC	0.527																																						ENST00000269228.5	0.710000	0.130000	5.300000e-01	2.300000e-01	0.350000	0.385702	0.350000	0.330000																										0				38						c.(3217-3219)ggC>ggT		Niemann-Pick disease, type C1							95.0	82.0	86.0					18																	21116663		2203	4300	6503	SO:0001819	synonymous_variant	4864	0	0					g.chr18:21116663G>A	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.3219C>T	chr18.hg19:g.21116663G>A		0					NPC1_ENST00000412552.2_Silent_p.G755G	p.G1073G	NM_000271.4	NP_000262.2	0	1	1	1.988234	O15118	NPC1_HUMAN		21	3773	-	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)		B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	0	1	hg19	c.3219C>T	CCDS11878.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	0	0	0		2	2	2	0		0	0	36		36	34	1	2.060000	-3.681352	1	0.170000	NM_000271			5	5		170	168	0		1	1		0	0	36	0		9.365572e-01	9.248916e-01	0	4	0	158	0	5	170
NPC1	4864	broad.mit.edu	37	18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	799					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)			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)					CTCTGACACAGCAAAAGATGT	0.443																																						ENST00000269228.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2395-2397)tgC>tgA		Niemann-Pick disease, type C1							91.0	91.0	91.0					18																	21121149		2203	4300	6503	SO:0001587	stop_gained	4864	0	0					g.chr18:21121149G>T	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.2397C>A	chr18.hg19:g.21121149G>T	ENSP00000269228:p.Cys799*	0					NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	p.C799*	NM_000271.4	NP_000262.2	0	1	1	1.988234	O15118	NPC1_HUMAN		16	2951	-	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)		B4DET3|Q9P130	Nonsense_Mutation	SNP	ENST00000269228.5	0	1	hg19	c.2397C>A	CCDS11878.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.037544	0.98021	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	.	.	.	5.89	4.84	0.62591	5.89	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0474	10.5037	0.44821	0.1421:0.0:0.8579:0.0	.	.	.	.	X	799;481;644	.	ENSP00000269228:C799X	C	-	3	2	2	NPC1	19375147	19375147	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.812000	0.47994	2.793000	0.96121	0.561000	0.74099	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1		2	2	2	0		0	0	72		72	69	1	2.060000	-20.000000	1	0.170000	NM_000271			72	71		373	362	1		1	1		0	0	72	0		1	1	0	10	0	141	0	72	373
NPC1	4864	broad.mit.edu	37	18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	481					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)			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)					ACACTCAAAATGGTGCAGTTC	0.448																																						ENST00000269228.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1441-1443)Att>Gtt		Niemann-Pick disease, type C1							158.0	129.0	139.0					18																	21134834		2203	4300	6503	SO:0001583	missense	4864	0	0					g.chr18:21134834T>C	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.1441A>G	chr18.hg19:g.21134834T>C	ENSP00000269228:p.Ile481Val	0					NPC1_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	p.I481V	NM_000271.4	NP_000262.2	0	1	1	1.988234	O15118	NPC1_HUMAN		9	1995	-	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)		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	1	1	hg19	c.1441A>G	CCDS11878.1	1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081134	0.55753	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.81908	-1.55;-1.55	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	L	0.41573	1.285	0.41445	D	0.987945	B;B	0.31790	0.224;0.34	B;B	0.37091	0.07;0.241	T	0.72750	-0.4199	10	0.11485	T	0.65	-24.1019	14.7895	0.69830	0.0:0.0:0.0:1.0	.	492;481	Q59GR1;O15118	.;NPC1_HUMAN	V	481;231;326	ENSP00000269228:I481V;ENSP00000408606:I231V	ENSP00000269228:I481V	I	-	1	0	0	NPC1	19388832	19388832	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.056000	0.57448	1.945000	0.56424	0.533000	0.62120	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1		2	2	2	0		0	0	67		67	63	1	2.060000	-20.000000	1	0.170000	NM_000271			47	46		196	193	1		1	1		0	0	67	0		1	9.999997e-01	0	45	0	53	0	47	196
NPC1	4864	broad.mit.edu	37	18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	146					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)			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)					TCCGACGTAGTATTGTAACTC	0.378																																						ENST00000269228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				38						c.(436-438)tAc>tGc		Niemann-Pick disease, type C1							174.0	159.0	164.0					18																	21148813		2203	4300	6503	SO:0001583	missense	4864	0	0					g.chr18:21148813T>C	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.437A>G	chr18.hg19:g.21148813T>C	ENSP00000269228:p.Tyr146Cys	0					NPC1_ENST00000540608.1_5'UTR	p.Y146C	NM_000271.4	NP_000262.2	0	1	1	1.988234	O15118	NPC1_HUMAN		4	991	-	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)		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	1	1	hg19	c.437A>G	CCDS11878.1	1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444146	0.63067	.	.	ENSG00000141458	ENST00000269228	D	0.91295	-2.82	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82630	2.6	0.80722	D	1	P	0.40619	0.724	P	0.45195	0.473	D	0.93099	0.6507	10	0.52906	T	0.07	-33.6711	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146	O15118	NPC1_HUMAN	C	146	ENSP00000269228:Y146C	ENSP00000269228:Y146C	Y	-	2	0	0	NPC1	19402811	19402811	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.846000	0.86887	2.271000	0.75665	0.533000	0.62120	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000271			53	53		314	309	1		1	1		0	0	61	0		1	9.998274e-01	0	5	0	73	0	53	314
LAMA3	3909	broad.mit.edu	37	18	21390456	21390456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21390456C>A	ENST00000313654.9	+	13	1971	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	577	Domain V.|Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)					TATGATTTCCCCCACTGCCAA	0.557																																						ENST00000313654.9	0.470000	0.130000	3.700000e-01	1.900000e-01	0.270000	0.287770	0.270000	0.260000																										0				128						c.(1729-1731)cCc>cAc		laminin, alpha 3							89.0	99.0	95.0					18																	21390456		2008	4176	6184	SO:0001583	missense	3909	0	0					g.chr18:21390456C>A	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.1730C>A	chr18.hg19:g.21390456C>A	ENSP00000324532:p.Pro577His	0					LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	p.P577H	NM_198129.1	NP_937762.1	0	1	1	1.988234	Q16787	LAMA3_HUMAN		13	1971	+	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)		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	0	1	hg19	c.1730C>A	CCDS42419.1	0	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510358	0.85389	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62788	-0.0;-0.0	4.8	4.8	0.61643	4.8	4.8	0.61643	EGF-like, laminin (4);	.	.	.	.	D	0.84502	0.5486	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	9	0.72032	D	0.01	.	17.6374	0.88127	0.0:1.0:0.0:0.0	.	577;577	Q6VU67;Q16787	.;LAMA3_HUMAN	H	577;577;575	ENSP00000324532:P577H;ENSP00000382432:P577H	ENSP00000324532:P577H	P	+	2	0	0	LAMA3	19644454	19644454	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.925000	0.75829	2.516000	0.84829	0.561000	0.74099	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.826916	1	0.170000	NM_000227, NM_198129			9	9		391	379	0		1	0		0	0	70	0		9.934961e-01	3.914522e-03	0	1	0	3	0	9	391
LAMA3	3909	broad.mit.edu	37	18	21494442	21494442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000587184.1_Silent_p.D801D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2466	Laminin G-like 1. {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)			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)					ACCTGGGGGACCGTGAGGCTG	0.537																																						ENST00000313654.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(7396-7398)gaC>gaT		laminin, alpha 3							92.0	84.0	87.0					18																	21494442		2203	4300	6503	SO:0001819	synonymous_variant	3909	0	0					g.chr18:21494442C>T	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.7398C>T	chr18.hg19:g.21494442C>T		0					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000399516.3_Silent_p.D2410D	p.D2466D	NM_198129.1	NP_937762.1	0	1	1	1.988234	Q16787	LAMA3_HUMAN		57	7639	+	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)		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	1	1	hg19	c.7398C>T	CCDS42419.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_000227, NM_198129			48	48		222	220	1		1	1		0	0	51	0		1	1	0	96	0	130	0	48	222
LAMA3	3909	broad.mit.edu	37	18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2624	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)			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)					CCTTTGGACAGACAATTCAGA	0.428																																						ENST00000313654.9	0.630000	0.300000	5.400000e-01	3.700000e-01	0.450000	0.462184	0.450000	0.450000																										0				128						c.(7870-7872)caG>caT		laminin, alpha 3							172.0	147.0	155.0					18																	21496608		2203	4300	6503	SO:0001583	missense	3909	0	0					g.chr18:21496608G>T	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.7872G>T	chr18.hg19:g.21496608G>T	ENSP00000324532:p.Gln2624His	0					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H	p.Q2624H	NM_198129.1	NP_937762.1	0	1	1	1.988234	Q16787	LAMA3_HUMAN		60	8113	+	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)		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	1	1	hg19	c.7872G>T	CCDS42419.1	0	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391060	0.62066	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.76	2.05	0.26809	5.76	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.82121	0.4968	M	0.65975	2.015	0.37623	D	0.921377	D;D;D;D	0.71674	0.965;0.965;0.992;0.998	P;P;P;P	0.58391	0.708;0.708;0.789;0.838	T	0.82168	-0.0591	9	0.66056	D	0.02	.	9.6372	0.39817	0.3361:0.0:0.6639:0.0	.	959;1015;2568;2624	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	H	2624;2568;1015	ENSP00000324532:Q2624H;ENSP00000382432:Q2568H;ENSP00000269217:Q1015H	ENSP00000269217:Q1015H	Q	+	3	2	2	LAMA3	19750606	19750606	0.990000	0.36364	0.056000	0.19401	0.835000	0.47333	1.937000	0.40193	0.098000	0.17522	-0.266000	0.10368	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-3.790664	1	0.170000	NM_000227, NM_198129			28	27		700	681	1		1	1		0	0	133	0		1	9.998060e-01	0	40	0	286	0	28	700
LAMA3	3909	broad.mit.edu	37	18	21519246	21519246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	ENST00000313654.9	+	68	9163	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2974					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)			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)					AAGATGCTTGCTCACCACTTC	0.542																																						ENST00000313654.9	0.640000	0.340000	5.700000e-01	4.000000e-01	0.480000	0.492412	0.480000	0.480000																										0				128						c.(8920-8922)tgC>tgA		laminin, alpha 3							155.0	149.0	151.0					18																	21519246		2203	4300	6503	SO:0001587	stop_gained	3909	0	0					g.chr18:21519246C>A	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.8922C>A	chr18.hg19:g.21519246C>A	ENSP00000324532:p.Cys2974*	0					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*	p.C2974*	NM_198129.1	NP_937762.1	0	1	1	1.988234	Q16787	LAMA3_HUMAN		68	9163	+	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)		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	0	1	hg19	c.8922C>A	CCDS42419.1	0	.	.	.	.	.	.	.	.	.	.	C	48	14.830680	0.99812	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.28	3.35	0.38373	5.28	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8599	0.35251	0.1477:0.7671:0.0:0.0852	.	.	.	.	X	2974;2918;1365	.	ENSP00000269217:C1365X	C	+	3	2	2	LAMA3	19773244	19773244	0.399000	0.25287	0.187000	0.23214	0.067000	0.16453	0.313000	0.19415	0.728000	0.32382	-1.134000	0.01955	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	1		17	9	2	1		1	1	187		187	184	1	2.060000	-4.641924	1	0.170000	NM_000227, NM_198129			37	37		860	851	0		1	0		1	0	187	0		9.980703e-01	9.507738e-01	0	2	0	366	0	37	860
LAMA3	3909	broad.mit.edu	37	18	21529773	21529773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000587184.1_Silent_p.Q1467Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3132	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)			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)					AGAACTTTCAGCTGGATTCAA	0.473																																						ENST00000313654.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(9394-9396)caG>caA		laminin, alpha 3							81.0	82.0	81.0					18																	21529773		2203	4300	6503	SO:0001819	synonymous_variant	3909	0	0					g.chr18:21529773G>A	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.9396G>A	chr18.hg19:g.21529773G>A		0					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000399516.3_Silent_p.Q3076Q	p.Q3132Q	NM_198129.1	NP_937762.1	0	1	1	1.988234	Q16787	LAMA3_HUMAN		71	9637	+	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)		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	1	1	hg19	c.9396G>A	CCDS42419.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_000227, NM_198129			51	50		264	260	1		1	1		0	0	55	0		1	1	0	309	0	277	0	51	264
TTC39C	125488	broad.mit.edu	37	18	21660833	21660833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21660833G>T	ENST00000317571.3	+	5	981	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	249										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTCCTGGAGACCGCCTACA	0.478																																						ENST00000317571.3	0.640000	0.170000	5.000000e-01	2.500000e-01	0.360000	0.381827	0.360000	0.340000																										0				19						c.(745-747)Gac>Tac		tetratricopeptide repeat domain 39C							70.0	70.0	70.0					18																	21660833		2203	4300	6503	SO:0001583	missense	125488	0	0					g.chr18:21660833G>T	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.745G>T	chr18.hg19:g.21660833G>T	ENSP00000323645:p.Asp249Tyr	0					TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	p.D249Y	NM_001135993.1	NP_001129465.1	0	1	1	1.988234	Q8N584	TT39C_HUMAN		5	981	+			B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	0	1	hg19	c.745G>T	CCDS45839.1	0	.	.	.	.	.	.	.	.	.	.	g	26.1	4.703674	0.88924	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73994	-0.3807	10	0.87932	D	0	-21.0511	20.023	0.97509	0.0:0.0:1.0:0.0	.	249	Q8N584	TT39C_HUMAN	Y	188;249	ENSP00000306598:D188Y;ENSP00000323645:D249Y	ENSP00000306598:D188Y	D	+	1	0	0	TTC39C	19914831	19914831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.733000	0.93635	0.552000	0.68991	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	0	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-9.088206	1	0.170000	NM_153211			8	8		261	255	0		1	0		0	0	68	0		9.886652e-01	3.645505e-02	0	0	0	9	0	8	261
TTC39C	125488	broad.mit.edu	37	18	21705488	21705488	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21705488T>A	ENST00000317571.3	+	10	1630	c.1394T>A	c.(1393-1395)tTc>tAc	p.F465Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.F404Y|TTC39C_ENST00000540918.2_Missense_Mutation_p.F158Y|RNU5A-6P_ENST00000384136.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	465										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AACTGTTCCTTCCCCAACCTG	0.463																																						ENST00000317571.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1393-1395)tTc>tAc		tetratricopeptide repeat domain 39C							123.0	114.0	117.0					18																	21705488		2203	4300	6503	SO:0001583	missense	125488	0	0					g.chr18:21705488T>A	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.1394T>A	chr18.hg19:g.21705488T>A	ENSP00000323645:p.Phe465Tyr	0					TTC39C_ENST00000304621.6_Missense_Mutation_p.F404Y|TTC39C_ENST00000540918.2_Missense_Mutation_p.F158Y|RNU5A-6P_ENST00000384136.1_RNA	p.F465Y	NM_001135993.1	NP_001129465.1	0	1	1	1.988234	Q8N584	TT39C_HUMAN		10	1630	+			B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	1	0	hg19	c.1394T>A	CCDS45839.1	1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656275	0.47467	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.42131	0.98;0.98;0.98	5.69	4.53	0.55603	5.69	4.53	0.55603	.	0.494478	0.25372	N	0.031152	T	0.23492	0.0568	N	0.08118	0	0.23366	N	0.997822	B	0.25169	0.119	B	0.21708	0.036	T	0.16719	-1.0393	10	0.51188	T	0.08	2.9698	10.5536	0.45103	0.0:0.0735:0.0:0.9265	.	465	Q8N584	TT39C_HUMAN	Y	404;465;158	ENSP00000306598:F404Y;ENSP00000323645:F465Y;ENSP00000443016:F158Y	ENSP00000306598:F404Y	F	+	2	0	0	TTC39C	19959486	19959486	0.863000	0.29885	0.987000	0.45799	0.716000	0.41182	2.397000	0.44477	1.092000	0.41356	0.482000	0.46254	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	1	0	1		2	2	2	0		0	0	97		97	98	1	2.060000	-20.000000	1	0.170000	NM_153211			84	84		384	375	1		1	1		0	0	97	0		1	9.916602e-01	0	5	0	31	0	84	384
CABYR	26256	broad.mit.edu	37	18	21735930	21735930	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21735930A>G	ENST00000399496.3	+	4	630	c.465A>G	c.(463-465)tcA>tcG	p.S155S	CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000399481.2_Silent_p.S57S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000415309.2_Silent_p.S155S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	155					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CACCCTCATCACCACCTCCAA	0.507																																						ENST00000399496.3	0.620000	0.250000	5.200000e-01	3.200000e-01	0.410000	0.428526	0.410000	0.410000																										0				11						c.(463-465)tcA>tcG		calcium binding tyrosine-(Y)-phosphorylation regulated							129.0	94.0	106.0					18																	21735930		2203	4300	6503	SO:0001819	synonymous_variant	26256	0	0					g.chr18:21735930A>G	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.465A>G	chr18.hg19:g.21735930A>G		0					CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000399481.2_Silent_p.S57S	p.S155S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	0	1	1	1.988234	O75952	CABYR_HUMAN		4	630	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	1	1	hg19	c.465A>G	CCDS42420.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	0	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-3.989085	1	0.170000	NM_153770			17	17		468	455	0		1	0		0	0	99	0		9.999568e-01	8.286987e-02	0	0	0	13	0	17	468
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*|OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433																																						ENST00000319481.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2053-2055)Gaa>Taa		oxysterol binding protein-like 1A							143.0	124.0	130.0					18																	21758017		2203	4300	6503	SO:0001587	stop_gained	114876	0	0					g.chr18:21758017C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2053G>T	chr18.hg19:g.21758017C>A	ENSP00000320291:p.Glu685*	0					OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	p.E685*	NM_080597.3	NP_542164.2	0	1	1	1.988234	Q9BXW6	OSBL1_HUMAN		21	2259	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	ENST00000319481.3	0	1	hg19	c.2053G>T	CCDS11884.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.889204	0.99288	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2574	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	685;172;303	.	ENSP00000320291:E685X	E	-	1	0	0	OSBPL1A	20012015	20012015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.081000	0.71309	2.724000	0.93272	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_080597			74	73		313	304	1		1	0		0	0	55	0		1	1	0	1	0	136	0	74	313
OSBPL1A	114876	broad.mit.edu	37	18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	483					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCGGACTCGGAATCTGTGGC	0.483																																						ENST00000319481.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(1447-1449)tCc>tAc		oxysterol binding protein-like 1A							67.0	60.0	63.0					18																	21805159		2203	4300	6503	SO:0001583	missense	114876	0	0					g.chr18:21805159G>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1448C>A	chr18.hg19:g.21805159G>T	ENSP00000320291:p.Ser483Tyr	0					OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	p.S483Y	NM_080597.3	NP_542164.2	0	1	1	1.988234	Q9BXW6	OSBL1_HUMAN		17	1654	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	1	1	hg19	c.1448C>A	CCDS11884.1	1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832775	0.71258	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.49720	0.77;0.82	5.98	5.11	0.69529	5.98	5.11	0.69529	.	.	.	.	.	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.64042	0.921;0.641	T	0.66685	-0.5861	9	0.41790	T	0.15	-18.226	15.6561	0.77136	0.0:0.1364:0.8636:0.0	.	483;483	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	483;101	ENSP00000320291:S483Y;ENSP00000349545:S101Y	ENSP00000320291:S483Y	S	-	2	0	0	OSBPL1A	20059157	20059157	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	6.355000	0.73041	1.518000	0.48934	0.655000	0.94253	TCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_080597			46	44		237	235	1		1	1		0	0	45	0		1	1	0	36	0	119	0	46	237
IMPACT	55364	broad.mit.edu	37	18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A	rs542157006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000284202.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(829-831)cGc>cAc		impact RWD domain protein							133.0	117.0	122.0					18																	22029853		2203	4300	6503	SO:0001583	missense	55364	9	121408	42				g.chr18:22029853G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.830G>A	chr18.hg19:g.22029853G>A	ENSP00000284202:p.Arg277His	0						p.R277H	NM_018439.3	NP_060909	0	1	1	1.988234	Q9P2X3	IMPCT_HUMAN		10	971	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	1	1	hg19	c.830G>A	CCDS11886.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574473	0.65878	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92507	3.315	0.80722	D	1	D	0.60160	0.987	P	0.49085	0.6	D	0.84239	0.0471	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	H	277	ENSP00000284202:R277H	ENSP00000284202:R277H	R	+	2	0	0	IMPACT	20283851	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.476612	1	0.170000	NM_018439			73	71		314	307	1		1	1		0	0	60	0		1	1	0	13	0	106	0	73	314
ZNF521	25925	broad.mit.edu	37	18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					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)			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)					CAGGCCATTGATATCAAGTTT	0.537			T	PAX5	ALL																																	ENST00000361524.3	0.550000	0.180000	4.500000e-01	2.500000e-01	0.340000	0.356587	0.340000	0.330000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(3253-3255)aTc>aGc		zinc finger protein 521							75.0	69.0	71.0					18																	22804628		2203	4300	6503	SO:0001583	missense	25925	0	0					g.chr18:22804628A>C	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.3254T>G	chr18.hg19:g.22804628A>C	ENSP00000354794:p.Ile1085Ser	0					ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S	p.I1085S	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		4	3402	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.3254T>G	CCDS32806.1	0	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626459	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.02	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.45806	D	0.998686	P	0.51449	0.945	P	0.45071	0.468	T	0.06734	-1.0810	10	0.48119	T	0.1	-35.3969	16.2652	0.82574	1.0:0.0:0.0:0.0	.	1085	Q96K83	ZN521_HUMAN	S	1085;1119;1085	ENSP00000354794:I1085S;ENSP00000382352:I1085S	ENSP00000354794:I1085S	I	-	2	0	0	ZNF521	21058626	21058626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.241000	0.73720	0.528000	0.53228	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-11.970940	1	0.170000	NM_015461			12	12		408	401	0		1	0		0	0	82	0		9.990507e-01	1.282560e-01	0	0	0	20	0	12	408
ZNF521	25925	broad.mit.edu	37	18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					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)			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)					CACCACGCAGCGAAAGCCTGT	0.512			T	PAX5	ALL																																	ENST00000361524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(3061-3063)cGc>cAc		zinc finger protein 521							76.0	65.0	69.0					18																	22804820		2203	4300	6503	SO:0001583	missense	25925	0	0					g.chr18:22804820C>T	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.3062G>A	chr18.hg19:g.22804820C>T	ENSP00000354794:p.Arg1021His	0					ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H	p.R1021H	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		4	3210	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.3062G>A	CCDS32806.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463683	0.43736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.9	6.17	6.17	0.99709	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00449	-1.1732	10	0.56958	D	0.05	-45.0411	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1021	Q96K83	ZN521_HUMAN	H	1021;1055;1021	ENSP00000354794:R1021H;ENSP00000382352:R1021H	ENSP00000354794:R1021H	R	-	2	0	0	ZNF521	21058818	21058818	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_015461			47	47		213	210	1		1	0		0	0	59	0		1	9.102378e-01	0	0	0	21	0	47	213
ZNF521	25925	broad.mit.edu	37	18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	514					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)			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)					TGGGGACAAAAGAATGCATTA	0.463			T	PAX5	ALL																																	ENST00000361524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(1540-1542)Ttt>Gtt		zinc finger protein 521							80.0	83.0	82.0					18																	22806342		2203	4300	6503	SO:0001583	missense	25925	0	0					g.chr18:22806342A>C	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.1540T>G	chr18.hg19:g.22806342A>C	ENSP00000354794:p.Phe514Val	0					ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	p.F514V	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		4	1688	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.1540T>G	CCDS32806.1	1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359577	0.24598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.87	5.87	0.94306	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.91635	0.999	T	0.09228	-1.0684	10	0.30854	T	0.27	-22.3299	16.2847	0.82712	1.0:0.0:0.0:0.0	.	514	Q96K83	ZN521_HUMAN	V	514;548;514	ENSP00000354794:F514V;ENSP00000382352:F514V	ENSP00000354794:F514V	F	-	1	0	0	ZNF521	21060340	21060340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_015461			71	71		294	290	1		1	0		0	0	72	0		1	6.093961e-01	0	0	0	10	0	71	294
ZNF521	25925	broad.mit.edu	37	18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	354					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)			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)					GTACTGGACACGGAGGTATAG	0.577			T	PAX5	ALL																																	ENST00000361524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(1060-1062)Gtg>Atg		zinc finger protein 521		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88.0	82.0	84.0		1060	6.2	1.0	18	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF521	NM_015461.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	354/1312	22806822	2,13004	2203	4300	6503	SO:0001583	missense	25925	6	121412	38				g.chr18:22806822C>T	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.1060G>A	chr18.hg19:g.22806822C>T	ENSP00000354794:p.Val354Met	0					ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M	p.V354M	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		4	1208	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.1060G>A	CCDS32806.1	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376385	0.24857	2.27E-4	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.04	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.01576	-0.805	0.40687	D	0.982362	P	0.35411	0.5	B	0.23150	0.044	T	0.55354	-0.8154	10	0.28530	T	0.3	-26.4043	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	354	Q96K83	ZN521_HUMAN	M	354;388;354	ENSP00000354794:V354M;ENSP00000382352:V354M	ENSP00000354794:V354M	V	-	1	0	0	ZNF521	21060820	21060820	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_015461			84	82		274	271	1		1	0		0	0	46	0		1	9.550601e-01	0	0	0	19	0	84	274
ZNF521	25925	broad.mit.edu	37	18	22807139	22807139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22807139C>T	ENST00000361524.3	-	4	891	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	248					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)			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)					ACACTGACTGCACTTCTGAGT	0.547			T	PAX5	ALL																																	ENST00000361524.3	0.620000	0.220000	5.100000e-01	3.000000e-01	0.390000	0.410486	0.390000	0.390000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(742-744)tGc>tAc		zinc finger protein 521							139.0	114.0	122.0					18																	22807139		2203	4300	6503	SO:0001583	missense	25925	0	0					g.chr18:22807139C>T	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.743G>A	chr18.hg19:g.22807139C>T	ENSP00000354794:p.Cys248Tyr	0					ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y	p.C248Y	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		4	891	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.743G>A	CCDS32806.1	0	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546262	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.16196	2.36;2.36	5.92	5.92	0.95590	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.02560	-1.1141	10	0.72032	D	0.01	-23.4588	20.3248	0.98698	0.0:1.0:0.0:0.0	.	248	Q96K83	ZN521_HUMAN	Y	248;282;248	ENSP00000354794:C248Y;ENSP00000382352:C248Y	ENSP00000354794:C248Y	C	-	2	0	0	ZNF521	21061137	21061137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.818000	0.97014	0.655000	0.94253	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.682373	1	0.170000	NM_015461			14	14		407	405	0		1	0		0	0	58	0		9.997557e-01	8.885675e-02	0	1	0	13	0	14	407
ZNF521	25925	broad.mit.edu	37	18	22902012	22902012	+	Silent	SNP	G	G	A	rs185598321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	60					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)			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)					CTGTGATATCGCTCAGCGATT	0.428			T	PAX5	ALL								g|||	1	0.000199681	0.0	0.0014	5008	,	,		18225	0.0		0.0	False		,,,				2504	0.0					ENST00000361524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(178-180)agC>agT		zinc finger protein 521		A		0,4406		0,0,2203	144.0	128.0	133.0		180	3.3	1.0	18		133	1,8599		0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		60/1312	22902012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25925	14	121412	48				g.chr18:22902012G>A	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.180C>T	chr18.hg19:g.22902012G>A		0					ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	p.S60S	NM_015461.2	NP_056276.1	0	1	1	1.988234	Q96K83	ZN521_HUMAN		3	328	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	1	1	hg19	c.180C>T	CCDS32806.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_015461			88	87		433	426	1		1	0		0	0	101	0		1	7.120014e-01	0	0	0	14	0	88	433
SS18	6760	broad.mit.edu	37	18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			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)		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)					CCCTGTGAAGGACCTGAAAAT	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""				M	M	SSX1,  SSX2		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				19						c.(1099-1101)Cct>Tct		synovial sarcoma translocation, chromosome 18							130.0	113.0	119.0					18																	23612494		2203	4300	6503	SO:0001583	missense	6760	0	0					g.chr18:23612494G>A	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.1099C>T	chr18.hg19:g.23612494G>A	ENSP00000414516:p.Pro367Ser	0					SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S	p.P367S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	0	1	1	1.988234	Q15532	SSXT_HUMAN		10	1154	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	1	1	hg19	c.1099C>T	CCDS32807.1	1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259899	0.59321	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.34072	1.41;1.4;1.44;1.38;1.44	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.47190	1.495	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.42816	-0.9429	10	0.28530	T	0.3	-3.721	18.4141	0.90562	0.0:0.0:1.0:0.0	.	284;336;367	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	370;367;336;344;284;285;284;82	ENSP00000269137:P336S;ENSP00000438066:P344S;ENSP00000444551:P284S;ENSP00000444647:P285S;ENSP00000443097:P284S	ENSP00000269137:P336S	P	-	1	0	0	SS18	21866492	21866492	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.419000	0.82065	0.467000	0.42956	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				60	58		343	333	1		1	1		0	0	88	0		1	1	0	54	0	147	0	60	343
TAF4B	6875	broad.mit.edu	37	18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A	rs200809831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D|TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	407					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)			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)			GGAGCAAAAGCTGGAGTTGTG	0.478																																						ENST00000269142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1219-1221)gCt>gAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							82.0	81.0	81.0					18																	23866093		1942	4169	6111	SO:0001583	missense	6875	0	0					g.chr18:23866093C>A	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.1220C>A	chr18.hg19:g.23866093C>A	ENSP00000269142:p.Ala407Asp	0					TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	p.A407D	NM_005640.1	NP_005631.1	0	1	1	1.988234	Q92750	TAF4B_HUMAN	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)	7	2218	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	1	1	hg19	c.1220C>A	CCDS42421.1	1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584104	0.28268	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.82;1.75	5.7	4.78	0.61160	5.7	4.78	0.61160	.	0.899725	0.09484	N	0.795943	T	0.17662	0.0424	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.28128	0.201;0.079	B;B	0.26614	0.034;0.071	T	0.08046	-1.0741	10	0.12430	T	0.62	-0.3601	13.5144	0.61533	0.0:0.8297:0.1703:0.0	.	407;407	Q92750;A4PBF7	TAF4B_HUMAN;.	D	407	ENSP00000389365:A407D;ENSP00000269142:A407D;ENSP00000383314:A407D	ENSP00000269142:A407D	A	+	2	0	0	TAF4B	22120091	22120091	0.540000	0.26410	0.969000	0.41365	0.991000	0.79684	1.318000	0.33643	2.701000	0.92244	0.552000	0.68991	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-4.750782	1	0.170000	NM_005640			56	56		291	287	1		1	1		0	0	82	0		1	7.556458e-01	0	4	0	12	0	56	291
TAF4B	6875	broad.mit.edu	37	18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A	rs528866087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H|TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	486					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)			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)			TCTGTGAAACCTGTTGTTTCT	0.483																																						ENST00000269142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1456-1458)cCt>cAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa																																				SO:0001583	missense	6875	0	0					g.chr18:23866330C>A	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.1457C>A	chr18.hg19:g.23866330C>A	ENSP00000269142:p.Pro486His	0					TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	p.P486H	NM_005640.1	NP_005631.1	0	1	1	1.988234	Q92750	TAF4B_HUMAN	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)	7	2455	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	1	1	hg19	c.1457C>A	CCDS42421.1	1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156372	0.21454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.79;1.76	5.28	4.4	0.53042	5.28	4.4	0.53042	.	0.319646	0.29846	N	0.011058	T	0.30885	0.0779	L	0.32530	0.975	0.20821	N	0.999847	D;D	0.69078	0.997;0.983	P;P	0.55667	0.781;0.635	T	0.06552	-1.0820	10	0.66056	D	0.02	-3.3309	11.2792	0.49184	0.0:0.9146:0.0:0.0854	.	486;486	Q92750;A4PBF7	TAF4B_HUMAN;.	H	486	ENSP00000389365:P486H;ENSP00000269142:P486H;ENSP00000383314:P486H	ENSP00000269142:P486H	P	+	2	0	0	TAF4B	22120328	22120328	0.043000	0.20138	0.658000	0.29665	0.859000	0.49053	2.122000	0.41987	2.483000	0.83821	0.557000	0.71058	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.198456	1	0.170000	NM_005640			90	88		414	404	1		1	1		0	0	102	0		1	8.065718e-01	0	6	0	10	0	90	414
KCTD1	284252	broad.mit.edu	37	18	24039887	24039887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	ENST00000408011.3	-	4	871	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000417602.1_Silent_p.D712D|KCTD1_ENST00000579973.1_Silent_p.D104D	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	104					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAAAGTGTAGTCCTGGAAAA	0.363																																						ENST00000408011.3	0.470000	0.170000	3.900000e-01	2.300000e-01	0.300000	0.313405	0.300000	0.290000																										0				12						c.(310-312)gaC>gaT		potassium channel tetramerization domain containing 1							65.0	67.0	67.0					18																	24039887		2203	4300	6503	SO:0001819	synonymous_variant	284252	0	0					g.chr18:24039887G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.312C>T	chr18.hg19:g.24039887G>A		0					KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000417602.1_Silent_p.D712D|KCTD1_ENST00000579973.1_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D	p.D104D	NM_001136205.2	NP_001129677.1	0	1	1	1.988234	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)	4	871	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		A8K1F5	Silent	SNP	ENST00000408011.3	0	1	hg19	c.312C>T	CCDS11888.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	0	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-12.597240	1	0.170000	XM_209091			15	15		576	558	0		1	1		0	0	100	0		9.998396e-01	3.965117e-01	0	5	0	46	0	15	576
KCTD1	284252	broad.mit.edu	37	18	24056620	24056620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000408011.3	-	3	727	c.168C>T	c.(166-168)atC>atT	p.I56I	KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	56	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388																																						ENST00000408011.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(166-168)atC>atT		potassium channel tetramerization domain containing 1							85.0	73.0	77.0					18																	24056620		2203	4300	6503	SO:0001819	synonymous_variant	284252	1	121412	30				g.chr18:24056620G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.168C>T	chr18.hg19:g.24056620G>A		0					KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I	p.I56I	NM_001136205.2	NP_001129677.1	0	1	1	1.988234	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)	3	727	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		A8K1F5	Silent	SNP	ENST00000408011.3	1	1	hg19	c.168C>T	CCDS11888.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	XM_209091			40	39		122	122	1		1	1		0	0	36	0		1	9.999445e-01	0	11	0	39	0	40	122
CHST9	83539	broad.mit.edu	37	18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	402					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.D402Y(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)					GTTCTTTCATCGGAAGAGTGC	0.363																																						ENST00000284224.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D402Y(1)	large_intestine(1)	28						c.(1204-1206)Gat>Aat		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							146.0	136.0	139.0					18																	24496351		1840	4090	5930	SO:0001583	missense	83539	3	120814	37				g.chr18:24496351C>T	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.1204G>A	chr18.hg19:g.24496351C>T	ENSP00000284224:p.Asp402Asn	0					AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.D402N	NM_031422.5	NP_113610.2	0	1	1	1.988234	Q7L1S5	CHST9_HUMAN		6	1481	-	all_lung(6;0.0145)|Ovarian(20;0.124)		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	1	1	hg19	c.1204G>A	CCDS42422.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184112	0.78677	.	.	ENSG00000154080	ENST00000284224	T	0.73152	-0.72	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.073354	0.56097	D	0.000021	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.73949	-0.3821	10	0.40728	T	0.16	-26.7158	20.6593	0.99626	0.0:1.0:0.0:0.0	.	402	Q7L1S5	CHST9_HUMAN	N	402	ENSP00000284224:D402N	ENSP00000284224:D402N	D	-	1	0	0	CHST9	22750349	22750349	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.755000	0.68750	2.885000	0.99019	0.655000	0.94253	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1		19	2	2	1		1	1	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_031422			127	125		609	598	1		1	0		1	0	128	0		1	5.912990e-01	0	0	0	11	0	127	609
CHST9	83539	broad.mit.edu	37	18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	317					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)			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)					TCTTCACAGGCATTTGGTCGA	0.398																																						ENST00000284224.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(949-951)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							154.0	147.0	149.0					18																	24496606		1879	4107	5986	SO:0001583	missense	83539	0	0					g.chr18:24496606C>T	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.949G>A	chr18.hg19:g.24496606C>T	ENSP00000284224:p.Ala317Thr	0					AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.A317T	NM_031422.5	NP_113610.2	0	1	1	1.988234	Q7L1S5	CHST9_HUMAN		6	1226	-	all_lung(6;0.0145)|Ovarian(20;0.124)		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	1	1	hg19	c.949G>A	CCDS42422.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805161	0.50315	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.245793	0.36134	N	0.002767	D	0.82360	0.5020	M	0.65498	2.005	0.80722	D	1	P	0.46912	0.886	P	0.51550	0.673	T	0.82374	-0.0489	10	0.72032	D	0.01	-4.0501	20.8794	0.99867	0.0:1.0:0.0:0.0	.	317	Q7L1S5	CHST9_HUMAN	T	317	ENSP00000284224:A317T	ENSP00000284224:A317T	A	-	1	0	0	CHST9	22750604	22750604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.758000	0.62220	2.941000	0.99782	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_031422			165	162		772	763	1		1	0		0	0	160	0		1	7.690241e-01	0	0	0	15	0	165	772
CHST9	83539	broad.mit.edu	37	18	24524299	24524299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	CHST9_ENST00000581714.1_Silent_p.T78T|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_Intron	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	78					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)			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)					ATACCTGGTTGGTGATATGTT	0.313																																						ENST00000284224.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(232-234)acC>acT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							105.0	97.0	99.0					18																	24524299		1810	4080	5890	SO:0001819	synonymous_variant	83539	0	0					g.chr18:24524299G>A	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.234C>T	chr18.hg19:g.24524299G>A		0					AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.T78T|CHST9_ENST00000580774.1_Intron	p.T78T	NM_031422.5	NP_113610.2	0	1	1	1.988234	Q7L1S5	CHST9_HUMAN		5	511	-	all_lung(6;0.0145)|Ovarian(20;0.124)		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	1	1	hg19	c.234C>T	CCDS42422.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.912668	1	0.170000	NM_031422			53	52		217	213	1		1	0		0	0	47	0		1	5.539359e-01	0	0	0	9	0	53	217
CDH2	1000	broad.mit.edu	37	18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000269141.3	-	12	2356	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	645	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			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						ATAGTCACTGGAGATAAAGGA	0.373																																						ENST00000269141.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999847	0.990000	1.000000																										0				82						c.(1933-1935)Cca>Tca		cadherin 2, type 1, N-cadherin (neuronal)							74.0	74.0	74.0					18																	25565534		2203	4300	6503	SO:0001583	missense	1000	0	0					g.chr18:25565534G>A	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.1933C>T	chr18.hg19:g.25565534G>A	ENSP00000269141:p.Pro645Ser	0					CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	p.P645S	NM_001792.3	NP_001783.2	0	1	1	1.988234	P19022	CADH2_HUMAN		12	2356	-			A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	1	1	hg19	c.1933C>T	CCDS11891.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597282	0.46318	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51325	0.71;0.71	5.96	5.96	0.96718	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.06494	T	0.89	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	614;645	A8MWK3;P19022	.;CADH2_HUMAN	S	645;614	ENSP00000269141:P645S;ENSP00000382312:P614S	ENSP00000269141:P645S	P	-	1	0	0	CDH2	23819532	23819532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.923646	1	0.170000	NM_001792			35	34		218	217	1		1	1		0	0	64	0		1	7.605620e-01	0	7	0	12	0	35	218
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	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)			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						GTTTCAAAGTCGATTGGCTGG	0.393																																						ENST00000269141.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1351-1353)Gac>Aac		cadherin 2, type 1, N-cadherin (neuronal)							55.0	56.0	56.0					18																	25570308		2203	4300	6503	SO:0001583	missense	1000	6	121406	36				g.chr18:25570308C>T	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.1351G>A	chr18.hg19:g.25570308C>T	ENSP00000269141:p.Asp451Asn	0					CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	p.D451N	NM_001792.3	NP_001783.2	0	1	1	1.988234	P19022	CADH2_HUMAN		10	1774	-			A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	1	1	hg19	c.1351G>A	CCDS11891.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178862	0.78564	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.63417	-0.04;-0.04	6.16	6.16	0.99307	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81239	2.535	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.53401	0.725;0.642	T	0.77568	-0.2539	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	N	451;420	ENSP00000269141:D451N;ENSP00000382312:D420N	ENSP00000269141:D451N	D	-	1	0	0	CDH2	23824306	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001792			53	51		210	207	1		1	1		0	0	66	0		1	9.155365e-01	0	6	0	13	0	53	210
THOC1	9984	broad.mit.edu	37	18	265360	265360	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					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)			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)				TTTTTTCATTTTCACTATTAA	0.299																																						ENST00000261600.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				20						c.(130-132)gaA>gaC		THO complex 1							53.0	50.0	51.0					18																	265360		1799	4065	5864	SO:0001583	missense	9984	0	0					g.chr18:265360T>G	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.132A>C	chr18.hg19:g.265360T>G	ENSP00000261600:p.Glu44Asp	0					THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	p.E44D	NM_005131.2	NP_005122.2	1	2	3	2.007506	Q96FV9	THOC1_HUMAN		3	139	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	1	1	hg19	c.132A>C	CCDS45820.1	1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086039	0.36855	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.27053	0.805	0.50039	D	0.999844	B;B	0.32467	0.285;0.372	B;B	0.30943	0.122;0.108	T	0.36504	-0.9745	9	0.14252	T	0.57	-17.3277	16.2861	0.82722	0.0:0.0:0.0:1.0	.	44;44	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	44	.	ENSP00000261600:E44D	E	-	3	2	2	THOC1	255360	255360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.322000	0.78497	0.528000	0.53228	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-12.594420	1	0.170000	NM_005131			16	16		64	63	1		1	1		0	0	12	0		9.999612e-01	9.818933e-01	0	10	0	20	0	16	64
THOC1	9984	broad.mit.edu	37	18	265516	265516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265516C>A	ENST00000261600.6	-	2	76	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	23					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)			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)				TGTTCAAGGCCTCTCTGGTAG	0.323																																						ENST00000261600.6	1.000000	0.410000	1	7.100000e-01	0.990000	0.899502	0.990000	1.000000																										0				20						c.(67-69)gaG>gaT		THO complex 1							70.0	65.0	66.0					18																	265516		1823	4069	5892	SO:0001583	missense	9984	0	0					g.chr18:265516C>A	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.69G>T	chr18.hg19:g.265516C>A	ENSP00000261600:p.Glu23Asp	0					THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	p.E23D	NM_005131.2	NP_005122.2	1	2	3	2.007506	Q96FV9	THOC1_HUMAN		2	76	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	0	1	hg19	c.69G>T	CCDS45820.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864297	0.32977	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	0.254	0.15557	6.06	0.254	0.15557	.	0.208574	0.49916	D	0.000131	T	0.19446	0.0467	N	0.08118	0	0.35667	D	0.813024	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04029	-1.0983	9	0.33940	T	0.23	-15.4522	1.6694	0.02808	0.1147:0.2986:0.199:0.3877	.	23;23	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	23	.	ENSP00000261600:E23D	E	-	3	2	2	THOC1	255516	255516	0.439000	0.25610	1.000000	0.80357	0.999000	0.98932	-0.300000	0.08243	0.372000	0.24591	0.650000	0.86243	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-9.492287	1	0.170000	NM_005131			4	4		39	38	0		1	1		0	0	15	0		8.879702e-01	5.671833e-01	0	6	0	12	0	4	39
SMCHD1	23347	broad.mit.edu	37	18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	717					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363																																						ENST00000320876.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999512	0.990000	1.000000																										0				45						c.(2149-2151)gCg>gTg		structural maintenance of chromosomes flexible hinge domain containing 1							31.0	32.0	32.0					18																	2707808		1803	4063	5866	SO:0001583	missense	23347	0	0					g.chr18:2707808C>T	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.2150C>T	chr18.hg19:g.2707808C>T	ENSP00000326603:p.Ala717Val	0					SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	p.A717V	NM_015295.2	NP_056110.2	1	2	3	2.007506	A6NHR9	SMHD1_HUMAN		17	2488	+			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	0	1	hg19	c.2150C>T	CCDS45822.1	1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018495	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.071383	0.56097	D	0.000036	T	0.24160	0.0585	N	0.24115	0.695	0.34705	D	0.727147	D	0.63046	0.992	P	0.45712	0.491	T	0.13818	-1.0495	10	0.35671	T	0.21	-15.1304	19.2255	0.93816	0.0:1.0:0.0:0.0	.	717	A6NHR9	SMHD1_HUMAN	V	717	ENSP00000326603:A717V;ENSP00000261598:A717V	ENSP00000261598:A717V	A	+	2	0	0	SMCHD1	2697808	2697808	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.910000	0.69931	2.589000	0.87451	0.563000	0.77884	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-11.211950	1	0.170000				13	13		54	53	0		1	1		0	0	9	0		9.996863e-01	9.970673e-01	0	9	0	37	0	13	54
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	rs199882009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	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)			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						ATGGCGAACCGTCCAGTAGGA	0.527																																						ENST00000269141.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1288-1290)Cgg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							207.0	161.0	177.0					18																	25572675		2203	4300	6503	SO:0001583	missense	1000	7	121412	39				g.chr18:25572675G>A	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.1288C>T	chr18.hg19:g.25572675G>A	ENSP00000269141:p.Arg430Trp	0					CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	p.R430W	NM_001792.3	NP_001783.2	0	1	1	1.988234	P19022	CADH2_HUMAN		9	1711	-			A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	1	1	hg19	c.1288C>T	CCDS11891.1	1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	2	CDH2	23826673	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1		15	2	2	0		0	1	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001792			51	50		251	247	1		1	1		0	0	74	0		9.999994e-01	9.586017e-01	0	6	0	22	0	51	251
DSC3	1825	broad.mit.edu	37	18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	rs115171596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000360428.4	-	15	2529	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	817					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)			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)			TCCGAGTAAGTGTATCTGCAG	0.507																																						ENST00000360428.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2449-2451)Act>Cct		desmocollin 3							102.0	87.0	92.0					18																	28576801		2203	4300	6503	SO:0001583	missense	1825	0	0					g.chr18:28576801T>G	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.2449A>C	chr18.hg19:g.28576801T>G	ENSP00000353608:p.Thr817Pro	0					DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	p.T817P	NM_001941.3	NP_001932.2	0	1	1	1.988234	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	15	2529	-			A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	1	1	hg19	c.2449A>C	CCDS32810.1	1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630069	0.14257	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.77098	-1.07;0.36	4.57	2.14	0.27477	4.57	2.14	0.27477	Cadherin, cytoplasmic domain (1);	0.499351	0.14992	N	0.286653	D	0.84202	0.5420	M	0.76838	2.35	0.24595	N	0.993807	D;D	0.67145	0.983;0.996	D;D	0.67725	0.917;0.953	T	0.72513	-0.4270	10	0.72032	D	0.01	.	5.1958	0.15236	0.1406:0.1556:0.0:0.7039	.	817;817	Q14574;Q14574-2	DSC3_HUMAN;.	P	817	ENSP00000353608:T817P;ENSP00000392068:T817P	ENSP00000353608:T817P	T	-	1	0	0	DSC3	26830799	26830799	0.994000	0.37717	0.554000	0.28268	0.608000	0.37181	1.385000	0.34408	0.346000	0.23899	0.533000	0.62120	ACT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_001941, NM_024423			55	54		280	278	1		1	1		0	0	55	0		1	1.315957e-01	0	3	0	1	0	55	280
DSC3	1825	broad.mit.edu	37	18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000360428.4	-	12	1888	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	603	Cadherin 5. {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)			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)			AGCTCCATGGACAGGTTCATC	0.358																																						ENST00000360428.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1807-1809)gTc>gCc		desmocollin 3							107.0	105.0	106.0					18																	28586953		2203	4300	6503	SO:0001583	missense	1825	3	121410	34				g.chr18:28586953A>G	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.1808T>C	chr18.hg19:g.28586953A>G	ENSP00000353608:p.Val603Ala	0					DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	p.V603A	NM_001941.3	NP_001932.2	0	1	1	1.988234	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	12	1888	-			A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	1	1	hg19	c.1808T>C	CCDS32810.1	1	.	.	.	.	.	.	.	.	.	.	A	0.632	-0.816678	0.02776	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60548	0.18;0.18	5.11	-0.191	0.13252	5.11	-0.191	0.13252	Cadherin (2);Cadherin-like (1);	1.001040	0.08063	N	0.998654	T	0.37839	0.1018	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	10	0.11794	T	0.64	.	4.6816	0.12738	0.4613:0.0:0.3889:0.1498	.	603;603	Q14574;Q14574-2	DSC3_HUMAN;.	A	603	ENSP00000353608:V603A;ENSP00000392068:V603A	ENSP00000353608:V603A	V	-	2	0	0	DSC3	26840951	26840951	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.391000	0.20784	0.068000	0.16574	-0.490000	0.04691	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_001941, NM_024423			58	58		249	243	1		1	1		0	0	65	0		1	2.450336e-01	0	2	0	3	0	58	249
DSC3	1825	broad.mit.edu	37	18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000360428.4	-	11	1636	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	519	Cadherin 4. {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)			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)			TTCATCAATGGTGATCCAACC	0.313																																						ENST00000360428.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				56						c.(1555-1557)aCc>aTc		desmocollin 3							36.0	34.0	34.0					18																	28588089		2203	4295	6498	SO:0001583	missense	1825	0	0					g.chr18:28588089G>A	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.1556C>T	chr18.hg19:g.28588089G>A	ENSP00000353608:p.Thr519Ile	0					DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	p.T519I	NM_001941.3	NP_001932.2	0	1	1	1.988234	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	11	1636	-			A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	1	1	hg19	c.1556C>T	CCDS32810.1	1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455834	0.26161	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54675	0.56;0.56	5.08	-1.53	0.08611	5.08	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	0.782790	0.10416	N	0.677346	T	0.57592	0.2064	M	0.79123	2.44	0.24325	N	0.995025	B;B	0.29716	0.255;0.203	B;B	0.39935	0.314;0.135	T	0.58504	-0.7625	10	0.46703	T	0.11	.	10.5402	0.45029	0.0:0.4184:0.1923:0.3893	.	519;519	Q14574;Q14574-2	DSC3_HUMAN;.	I	519	ENSP00000353608:T519I;ENSP00000392068:T519I	ENSP00000353608:T519I	T	-	2	0	0	DSC3	26842087	26842087	0.041000	0.20044	0.411000	0.26484	0.703000	0.40648	-0.030000	0.12308	-0.418000	0.07450	-0.175000	0.13238	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001941, NM_024423			22	22		76	75	1		1	0		0	0	13	0		9.999995e-01	0	0	0	0	1	0	22	76
DSC3	1825	broad.mit.edu	37	18	28602455	28602455	+	Silent	SNP	C	C	T	rs573762324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000360428.4	-	7	869	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000434452.1_Silent_p.G263G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	263	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)			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)			CACAAACCACCCCCACTGTAG	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000360428.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				56						c.(787-789)ggG>ggA		desmocollin 3							122.0	109.0	113.0					18																	28602455		2203	4300	6503	SO:0001819	synonymous_variant	1825	2	121410	36				g.chr18:28602455C>T	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.789G>A	chr18.hg19:g.28602455C>T		0					DSC3_ENST00000434452.1_Silent_p.G263G	p.G263G	NM_001941.3	NP_001932.2	0	1	1	1.988234	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	7	869	-			A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	1	1	hg19	c.789G>A	CCDS32810.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.323306	1	0.170000	NM_001941, NM_024423			41	39		241	235	1		1	0		0	0	56	0		1	0	0	0	0	1	0	41	241
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000360428.4	-	5	606	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	176	Cadherin 1. {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)			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)			TCAACTCCACGTCCACTTATT	0.313																																						ENST00000360428.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				56						c.(526-528)Cgt>Tgt		desmocollin 3		G	CYS/ARG,CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	55.0	56.0	56.0		526,526	4.9	1.0	18	dbSNP_134	56	0,8600		0,0,4300	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	180,180	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	176/897,176/840	28605830	3,13001	2202	4300	6502	SO:0001583	missense	1825	12	121406	39				g.chr18:28605830G>A	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.526C>T	chr18.hg19:g.28605830G>A	ENSP00000353608:p.Arg176Cys	0					DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	p.R176C	NM_001941.3	NP_001932.2	0	1	1	1.988234	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	5	606	-			A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	1	1	hg19	c.526C>T	CCDS32810.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290692	0.80914	6.81E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.33382	N	0.004974	T	0.63177	0.2489	L	0.27053	0.805	0.52099	D	0.999944	D;D	0.71674	0.997;0.998	P;P	0.61658	0.892;0.827	T	0.67473	-0.5662	10	0.87932	D	0	.	17.4558	0.87607	0.0:0.0:1.0:0.0	.	176;176	Q14574;Q14574-2	DSC3_HUMAN;.	C	176	ENSP00000353608:R176C;ENSP00000392068:R176C	ENSP00000353608:R176C	R	-	1	0	0	DSC3	26859828	26859828	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	5.544000	0.67231	2.706000	0.92434	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-2.786471	1	0.170000	NM_001941, NM_024423			27	27		131	127	1		1	0		0	0	42	0		1	0	0	0	0	1	0	27	131
DSC2	1824	broad.mit.edu	37	18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	413	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AACTCCTTCATTGGTTTTGGC	0.294																																						ENST00000280904.6	0.580000	0.150000	4.500000e-01	2.300000e-01	0.320000	0.347833	0.320000	0.310000																										0				21						c.(1237-1239)aAt>aGt		desmocollin 2							81.0	85.0	84.0					18																	28662229		2202	4296	6498	SO:0001583	missense	1824	0	0					g.chr18:28662229T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1238A>G	chr18.hg19:g.28662229T>C	ENSP00000280904:p.Asn413Ser	0					DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	p.N413S	NM_024422.3	NP_077740.1	0	1	1	1.988234	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)	9	1681	-				Missense_Mutation	SNP	ENST00000280904.6	1	1	hg19	c.1238A>G	CCDS11892.1	0	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344545	0.82022	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.38077	1.16;1.16	5.69	5.69	0.88448	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	0.000000	0.34555	N	0.003875	T	0.65354	0.2683	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.72214	-0.4358	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	413;413	Q02487;Q02487-2	DSC2_HUMAN;.	S	413;413;179;426	ENSP00000251081:N413S;ENSP00000280904:N413S	ENSP00000251081:N413S	N	-	2	0	0	DSC2	26916227	26916227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.373000	0.79623	2.170000	0.68504	0.528000	0.53228	AAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-9.175431	1	0.170000	NM_004949			8	8		288	284	0		1	0		0	0	87	0		9.890327e-01	6.124954e-01	0	1	0	71	0	8	288
DSC2	1824	broad.mit.edu	37	18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATACAAGTTTCCAGTGTCTCT	0.403																																						ENST00000280904.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(577-579)gGa>gTa		desmocollin 2							113.0	110.0	111.0					18																	28669454		2203	4300	6503	SO:0001583	missense	1824	0	0					g.chr18:28669454C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.578G>T	chr18.hg19:g.28669454C>A	ENSP00000280904:p.Gly193Val	0					DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	p.G193V	NM_024422.3	NP_077740.1	0	1	1	1.988234	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)	5	1021	-				Missense_Mutation	SNP	ENST00000280904.6	1	1	hg19	c.578G>T	CCDS11892.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688337	0.88639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.73152	-0.72;-0.72	6.16	6.16	0.99307	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.31697	N	0.007218	D	0.90310	0.6969	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	193;193	Q02487;Q02487-2	DSC2_HUMAN;.	V	193;193;206	ENSP00000251081:G193V;ENSP00000280904:G193V	ENSP00000251081:G193V	G	-	2	0	0	DSC2	26923452	26923452	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.504000	0.53347	2.937000	0.99478	0.650000	0.86243	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.542376	1	0.170000	NM_004949			66	65		264	259	1		1	1		0	0	65	0		1	9.999912e-01	0	18	0	53	0	66	264
DSC2	1824	broad.mit.edu	37	18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	77					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATAGACTGAACCATCCTCCAA	0.343																																						ENST00000280904.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(229-231)gGt>gAt		desmocollin 2							74.0	73.0	73.0					18																	28672188		2202	4299	6501	SO:0001583	missense	1824	0	0					g.chr18:28672188C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.230G>A	chr18.hg19:g.28672188C>T	ENSP00000280904:p.Gly77Asp	0					DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	p.G77D	NM_024422.3	NP_077740.1	0	1	1	1.988234	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)	3	673	-				Missense_Mutation	SNP	ENST00000280904.6	1	1	hg19	c.230G>A	CCDS11892.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183727	0.78677	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.91464	-2.85;-2.85	5.1	5.1	0.69264	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.32935	N	0.005474	D	0.95449	0.8522	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	.	17.6462	0.88149	0.0:1.0:0.0:0.0	.	77;77	Q02487;Q02487-2	DSC2_HUMAN;.	D	77	ENSP00000251081:G77D;ENSP00000280904:G77D	ENSP00000251081:G77D	G	-	2	0	0	DSC2	26926186	26926186	0.999000	0.42202	0.998000	0.56505	0.895000	0.52256	4.935000	0.63498	2.550000	0.86006	0.455000	0.32223	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_004949			52	52		217	210	1		1	1		0	0	68	0		1	9.996705e-01	0	15	0	38	0	52	217
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333																																						ENST00000280904.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(202-204)Gat>Tat		desmocollin 2							67.0	66.0	66.0					18																	28672216		2203	4300	6503	SO:0001583	missense	1824	0	0					g.chr18:28672216C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.202G>T	chr18.hg19:g.28672216C>A	ENSP00000280904:p.Asp68Tyr	0					DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	p.D68Y	NM_024422.3	NP_077740.1	0	1	1	1.988234	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)	3	645	-				Missense_Mutation	SNP	ENST00000280904.6	1	1	hg19	c.202G>T	CCDS11892.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585829	0.66105	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57595	0.39;0.39	5.21	5.21	0.72293	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33346	N	0.005008	T	0.71854	0.3389	M	0.81112	2.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75238	-0.3388	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	68;68	Q02487;Q02487-2	DSC2_HUMAN;.	Y	68	ENSP00000251081:D68Y;ENSP00000280904:D68Y	ENSP00000251081:D68Y	D	-	1	0	0	DSC2	26926214	26926214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.607000	0.88179	0.455000	0.32223	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_004949			47	47		207	201	1		1	1		0	0	54	0		1	9.986508e-01	0	12	0	35	0	47	207
DSC1	1823	broad.mit.edu	37	18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	894					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393																																						ENST00000257198.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2680-2682)Aaa>Caa		desmocollin 1							133.0	129.0	130.0					18																	28710482		2203	4300	6503	SO:0001583	missense	1823	0	0					g.chr18:28710482T>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2680A>C	chr18.hg19:g.28710482T>G	ENSP00000257198:p.Lys894Gln	0					DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	p.K894Q	NM_024421.2	NP_077739.1	0	1	1	1.988234	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)	16	2941	-			Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	1	1	hg19	c.2680A>C	CCDS11894.1	1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453221	0.43531	.	.	ENSG00000134765	ENST00000257198	T	0.58940	0.3	6.17	0.998	0.19857	6.17	0.998	0.19857	.	0.646706	0.14215	N	0.333813	T	0.45054	0.1323	L	0.34521	1.04	0.23156	N	0.998203	B	0.19200	0.034	B	0.24394	0.053	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.4925	0.38969	0.1086:0.0:0.3923:0.4991	.	894	Q08554	DSC1_HUMAN	Q	894	ENSP00000257198:K894Q	ENSP00000257198:K894Q	K	-	1	0	0	DSC1	26964480	26964480	0.921000	0.31238	0.066000	0.19879	0.158000	0.22134	1.302000	0.33459	0.213000	0.20722	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_004948, NM_024421			130	127		560	541	1		1			0	0	130	0		1	0	0	0	0	0	0	130	560
EMILIN2	84034	broad.mit.edu	37	18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	147					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)			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)		AACAGATAATGAACCCAGCCA	0.433																																						ENST00000254528.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993712	0.990000	1.000000																										0				48						c.(439-441)Gaa>Aaa		elastin microfibril interfacer 2							42.0	44.0	43.0					18																	2890564		2203	4300	6503	SO:0001583	missense	84034	0	0					g.chr18:2890564G>A	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.439G>A	chr18.hg19:g.2890564G>A	ENSP00000254528:p.Glu147Lys	0						p.E147K	NM_032048.2	NP_114437.2	0	1	1	1.933000	Q9BXX0	EMIL2_HUMAN		4	598	+			B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	1	1	hg19	c.439G>A	CCDS11828.1	1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534511	0.27475	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.759946	0.12001	N	0.508783	T	0.33818	0.0876	L	0.54323	1.7	0.32662	N	0.51795	B	0.21147	0.052	B	0.21917	0.037	T	0.36962	-0.9726	10	0.06494	T	0.89	-11.8618	14.7602	0.69600	0.0:0.0:1.0:0.0	.	147	Q9BXX0	EMIL2_HUMAN	K	147	ENSP00000254528:E147K	ENSP00000254528:E147K	E	+	1	0	0	EMILIN2	2880564	2880564	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.484000	0.60271	2.555000	0.86185	0.557000	0.71058	GAA	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_032048			38	36		247	239	1		1	0		0	0	71	0		1	9.987989e-01	0	0	0	69	0	38	247
DSC1	1823	broad.mit.edu	37	18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A	rs369709593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257198.5	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	DSC1_ENST00000257197.3_Missense_Mutation_p.P308S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373																																						ENST00000257198.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(922-924)Cct>Tct		desmocollin 1		G	SER/PRO,SER/PRO	2,4404	4.2+/-10.8	0,2,2201	159.0	154.0	156.0		922,922	-0.6	0.0	18		156	0,8600		0,0,4300	no	missense,missense	DSC1	NM_024421.2,NM_004948.3	74,74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	308/895,308/841	28725591	2,13004	2203	4300	6503	SO:0001583	missense	1823	2	121412	38				g.chr18:28725591G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.922C>T	chr18.hg19:g.28725591G>A	ENSP00000257198:p.Pro308Ser	0					DSC1_ENST00000257197.3_Missense_Mutation_p.P308S|RP11-408H20.2_ENST00000581836.1_RNA	p.P308S	NM_024421.2	NP_077739.1	0	1	1	1.988234	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)	7	1183	-			Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	1	1	hg19	c.922C>T	CCDS11894.1	1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164066	0.01673	4.54E-4	0.0	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.56;0.56	5.32	-0.572	0.11745	5.32	-0.572	0.11745	Cadherin (4);Cadherin-like (1);	0.446761	0.18957	N	0.126507	T	0.22475	0.0542	N	0.05554	-0.025	0.09310	N	1	B;B	0.18461	0.028;0.012	B;B	0.15052	0.012;0.012	T	0.14254	-1.0479	10	0.13853	T	0.58	.	4.2214	0.10559	0.3703:0.0:0.3952:0.2345	.	308;308	Q08554;Q9HB00	DSC1_HUMAN;.	S	308	ENSP00000257197:P308S;ENSP00000257198:P308S	ENSP00000257197:P308S	P	-	1	0	0	DSC1	26979589	26979589	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.228000	0.09114	0.182000	0.20032	0.484000	0.47621	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_004948, NM_024421			86	84		398	393	1		1			0	0	78	0		1	0	0	0	0	0	0	86	398
DSG1	1828	broad.mit.edu	37	18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	887					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)			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)			GCCTGACTTGCGAGATGGGTC	0.478																																						ENST00000257192.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2659-2661)Cga>Tga		desmoglein 1							165.0	156.0	159.0					18																	28934818		2203	4300	6503	SO:0001587	stop_gained	1828	0	0					g.chr18:28934818C>T	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.2659C>T	chr18.hg19:g.28934818C>T	ENSP00000257192:p.Arg887*	0					RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	p.R887*	NM_001942.2	NP_001933.2	0	1	1	1.988234	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)	15	2871	+			B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	0	1	hg19	c.2659C>T	CCDS11896.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.653377	0.97739	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.02	4.87	0.63330	6.02	4.87	0.63330	.	0.236364	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5659	0.33538	0.5489:0.3835:0.0675:0.0	.	.	.	.	X	887	.	ENSP00000257192:R887X	R	+	1	2	2	DSG1	27188816	27188816	0.998000	0.40836	0.999000	0.59377	0.854000	0.48673	2.019000	0.41001	1.113000	0.41760	-0.262000	0.10625	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_001942			124	121		553	545	0		1			0	0	131	0		1	0	0	0	0	0	0	124	553
DSG1	1828	broad.mit.edu	37	18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	966					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)			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)			TGGAATTAGTGGCACCACTGG	0.567																																						ENST00000257192.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2896-2898)Ggc>Tgc		desmoglein 1							161.0	154.0	156.0					18																	28935055		2203	4300	6503	SO:0001583	missense	1828	0	0					g.chr18:28935055G>T	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.2896G>T	chr18.hg19:g.28935055G>T	ENSP00000257192:p.Gly966Cys	0					RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	p.G966C	NM_001942.2	NP_001933.2	0	1	1	1.988234	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)	15	3108	+			B7Z845	Missense_Mutation	SNP	ENST00000257192.4	1	1	hg19	c.2896G>T	CCDS11896.1	1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613598	0.03690	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	6.11	4.32	0.51571	6.11	4.32	0.51571	.	0.000000	0.53938	D	0.000054	T	0.51210	0.1661	N	0.08118	0	0.25503	N	0.987539	D	0.76494	0.999	D	0.62955	0.909	T	0.43343	-0.9397	10	0.62326	D	0.03	.	8.8549	0.35223	0.2249:0.0:0.7751:0.0	.	966	Q02413	DSG1_HUMAN	C	966	ENSP00000257192:G966C	ENSP00000257192:G966C	G	+	1	0	0	DSG1	27189053	27189053	0.984000	0.35163	0.114000	0.21550	0.003000	0.03518	1.520000	0.35899	1.600000	0.50102	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000	NM_001942			157	155		701	691	1		1			0	0	169	0		1	0	0	0	0	0	0	157	701
DSG4	147409	broad.mit.edu	37	18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000308128.4	+	11	1702	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P523S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					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)			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)			TTATGGGTCTCCGTTTACTTT	0.383																																						ENST00000308128.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				70						c.(1567-1569)Ccg>Tcg		desmoglein 4							146.0	135.0	139.0					18																	28983528		2203	4300	6503	SO:0001583	missense	147409	0	0					g.chr18:28983528C>T	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.1567C>T	chr18.hg19:g.28983528C>T	ENSP00000311859:p.Pro523Ser	0					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P523S	p.P523S	NM_177986.3	NP_817123.1	0	1	1	1.988234	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)	11	1702	+			A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	1	1	hg19	c.1567C>T	CCDS11897.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477402	0.63849	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.62788	0.0;0.0	6.01	6.01	0.97437	6.01	6.01	0.97437	Cadherin-like (1);	0.000000	0.34460	N	0.003957	D	0.82774	0.5110	M	0.85859	2.78	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.84109	0.0400	10	0.87932	D	0	.	20.1245	0.97974	0.0:1.0:0.0:0.0	.	523;523	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	523	ENSP00000311859:P523S;ENSP00000352785:P523S	ENSP00000311859:P523S	P	+	1	0	0	DSG4	27237526	27237526	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.579000	0.67457	2.850000	0.98022	0.655000	0.94253	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.801330	1	0.170000	NM_177986			41	41		236	227	1		1			0	0	57	0		1	0	0	0	0	0	0	41	236
DSG4	147409	broad.mit.edu	37	18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000308128.4	+	16	2615	c.2480A>G	c.(2479-2481)gAc>gGc	p.D827G	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D846G|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	827					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)			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)			ATTGTGGATGACTTAGATGAA	0.453																																						ENST00000308128.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2479-2481)gAc>gGc		desmoglein 4							134.0	124.0	127.0					18																	28992915		2203	4300	6503	SO:0001583	missense	147409	0	0					g.chr18:28992915A>G	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.2480A>G	chr18.hg19:g.28992915A>G	ENSP00000311859:p.Asp827Gly	0					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D846G	p.D827G	NM_177986.3	NP_817123.1	0	1	1	1.988234	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)	16	2615	+			A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	1	1	hg19	c.2480A>G	CCDS11897.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080926	0.76528	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79141	-1.24;-1.24	5.64	5.64	0.86602	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.000000	0.36482	N	0.002569	D	0.89842	0.6832	M	0.89214	3.015	0.45718	D	0.998622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91774	0.5430	10	0.87932	D	0	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	846;827	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	827;846	ENSP00000311859:D827G;ENSP00000352785:D846G	ENSP00000311859:D827G	D	+	2	0	0	DSG4	27246913	27246913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.141000	0.66446	0.528000	0.53228	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_177986			98	98		473	462	1		1			0	0	90	0		1	0	0	0	0	0	0	98	473
DSG3	1830	broad.mit.edu	37	18	29055872	29055872	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	883					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGAATCCTGTGGCCATC	0.473																																						ENST00000257189.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2647-2649)tcC>tcA		desmoglein 3							123.0	121.0	122.0					18																	29055872		2203	4300	6503	SO:0001819	synonymous_variant	1830	0	0					g.chr18:29055872C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2649C>A	chr18.hg19:g.29055872C>A		0						p.S883S	NM_001944.2	NP_001935.2	0	1	1	1.988234	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)	16	2732	+			A8K2V2	Silent	SNP	ENST00000257189.4	1	1	hg19	c.2649C>A	CCDS11898.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.074583	1	0.170000	NM_001944			97	97		425	421	1		1	1		0	0	102	0		1	1	0	56	0	54	0	97	425
DSG2	1829	broad.mit.edu	37	18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAAAGATTGTGGCCATATCA	0.299																																						ENST00000261590.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				49						c.(1408-1410)gTg>gCg		desmoglein 2							43.0	41.0	42.0					18																	29115361		1806	4072	5878	SO:0001583	missense	1829	0	0					g.chr18:29115361T>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1409T>C	chr18.hg19:g.29115361T>C	ENSP00000261590:p.Val470Ala	0						p.V470A	NM_001943.3	NP_001934.2	0	1	1	1.988234	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)	10	1618	+			Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	1	1	hg19	c.1409T>C	CCDS42423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706790	0.30232	.	.	ENSG00000046604	ENST00000261590	T	0.61274	0.12	5.66	5.66	0.87406	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	1.741940	0.02868	N	0.131227	T	0.64405	0.2595	L	0.53249	1.67	0.80722	D	1	B	0.26975	0.165	B	0.31442	0.13	T	0.36696	-0.9737	10	0.62326	D	0.03	.	15.8834	0.79222	0.0:0.0:0.0:1.0	.	470	Q14126	DSG2_HUMAN	A	470	ENSP00000261590:V470A	ENSP00000261590:V470A	V	+	2	0	0	DSG2	27369359	27369359	1.000000	0.71417	0.037000	0.18230	0.151000	0.21798	6.445000	0.73456	2.158000	0.67659	0.379000	0.24179	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_001943			26	22		99	98	1		1	1		0	0	31	0		1	1	0	153	0	178	0	26	99
DSG2	1829	broad.mit.edu	37	18	29118725	29118725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	555					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCAGTGTGCTGCTGCAACA	0.413																																						ENST00000261590.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				49						c.(1663-1665)Ctg>Ttg		desmoglein 2							96.0	90.0	92.0					18																	29118725		1897	4120	6017	SO:0001819	synonymous_variant	1829	0	0					g.chr18:29118725C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1663C>T	chr18.hg19:g.29118725C>T		0						p.L555L	NM_001943.3	NP_001934.2	0	1	1	1.988234	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)	12	1872	+			Q4KKU6	Silent	SNP	ENST00000261590.8	1	1	hg19	c.1663C>T	CCDS42423.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.999920	1	0.170000	NM_001943			47	47		245	242	1		1	1		0	0	58	0		1	1	0	245	0	332	0	47	245
LPIN2	9663	broad.mit.edu	37	18	2920375	2920375	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	869					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)			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)		GAAAAGCGGAATTCTGCTCCT	0.557																																						ENST00000261596.4	0.970000	0.380000	8.100000e-01	5.000000e-01	0.640000	0.661314	0.640000	1.000000																										0				29						c.(2605-2607)aaT>aaC		lipin 2							57.0	51.0	53.0					18																	2920375		2203	4300	6503	SO:0001819	synonymous_variant	9663	0	0					g.chr18:2920375A>G	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.2607T>C	chr18.hg19:g.2920375A>G		0					RP11-737O24.5_ENST00000608032.1_RNA	p.N869N	NM_014646.2	NP_055461.1	0	1	1	1.933000	Q92539	LPIN2_HUMAN		20	2845	-			A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	1	1	hg19	c.2607T>C	CCDS11829.1	0																																																																																								1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-18.573610	1	0.170000	NM_014646			15	15		238	234	0		1	1		0	0	50	0		9.998711e-01	9.948187e-01	0	13	0	127	0	15	238
LPIN2	9663	broad.mit.edu	37	18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	318					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)			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)		ACAGTGTCTTCCATGGAAGCA	0.483																																						ENST00000261596.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(952-954)Gaa>Aaa		lipin 2							173.0	155.0	161.0					18																	2937906		2203	4300	6503	SO:0001583	missense	9663	0	0					g.chr18:2937906C>T	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.952G>A	chr18.hg19:g.2937906C>T	ENSP00000261596:p.Glu318Lys	0						p.E318K	NM_014646.2	NP_055461.1	0	1	1	1.933000	Q92539	LPIN2_HUMAN		7	1190	-			A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	1	1	hg19	c.952G>A	CCDS11829.1	1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008567	0.07727	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.96	5.96	0.96718	5.96	5.96	0.96718	.	1.088990	0.06752	N	0.780147	T	0.66954	0.2842	N	0.16656	0.425	0.29070	N	0.883339	B	0.02656	0.0	B	0.01281	0.0	T	0.54774	-0.8243	10	0.09590	T	0.72	.	9.2797	0.37720	0.0:0.8811:0.0:0.1189	.	318	Q92539	LPIN2_HUMAN	K	318	ENSP00000261596:E318K	ENSP00000261596:E318K	E	-	1	0	0	LPIN2	2927906	2927906	0.662000	0.27439	0.713000	0.30519	0.973000	0.67179	2.963000	0.49184	2.832000	0.97577	0.655000	0.94253	GAA	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-4.692920	1	0.170000	NM_014646			127	126		416	411	1		1	1		0	0	104	0		1	9.999992e-01	0	19	0	49	0	127	416
DSG2	1829	broad.mit.edu	37	18	29126558	29126558	+	Missense_Mutation	SNP	C	C	T	rs149617776	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29126558C>T	ENST00000261590.8	+	15	3418	c.3209C>T	c.(3208-3210)aCg>aTg	p.T1070M	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1070					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATTCTATGACGGCTAGGAAC	0.463													A|||	20	0.00399361	0.0	0.0173	5008	,	,		20596	0.0079		0.0	False		,,,				2504	0.0					ENST00000261590.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3208-3210)aCg>aTg		desmoglein 2		A	MET/THR	1,3769		0,1,1884	89.0	85.0	87.0		3209	-9.3	0.0	18	dbSNP_134	87	5,8269		0,5,4132	yes	missense	DSG2	NM_001943.3	81	0,6,6016	TT,TC,CC		0.0604,0.0265,0.0498	benign	1070/1119	29126558	6,12038	1885	4137	6022	SO:0001583	missense	1829	142	120834	55				g.chr18:29126558C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3209C>T	chr18.hg19:g.29126558C>T	ENSP00000261590:p.Thr1070Met	0					RP11-75N4.2_ENST00000583706.1_RNA	p.T1070M	NM_001943.3	NP_001934.2	0	1	1	1.988234	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)	15	3418	+			Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	1	0	hg19	c.3209C>T	CCDS42423.1	1	13	0.005952380952380952	0	0.0	6	0.016574585635359115	7	0.012237762237762238	0	0.0	A	10.04	1.241852	0.22796	2.65E-4	6.04E-4	ENSG00000046604	ENST00000261590	T	0.76968	-1.06	4.67	-9.34	0.00636	4.67	-9.34	0.00636	.	1.337880	0.04842	N	0.440611	T	0.45054	0.1323	L	0.43923	1.385	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.36648	-0.9739	10	0.18276	T	0.48	.	4.4684	0.11700	0.088:0.437:0.1481:0.3269	.	1070	Q14126	DSG2_HUMAN	M	1070	ENSP00000261590:T1070M	ENSP00000261590:T1070M	T	+	2	0	0	DSG2	27380556	27380556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.531000	0.06171	-2.727000	0.00386	-1.175000	0.01729	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-6.367873	1	0.170000	NM_001943			77	75		461	453	1		1	1		0	0	126	0		1	1	0	304	0	428	0	77	461
KLHL14	57565	broad.mit.edu	37	18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	330						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418																																						ENST00000359358.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999838	0.990000	1.000000																										0				31						c.(988-990)Ctg>Atg		kelch-like family member 14							95.0	89.0	91.0					18																	30321972		2203	4300	6503	SO:0001583	missense	57565	0	0					g.chr18:30321972G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.988C>A	chr18.hg19:g.30321972G>T	ENSP00000352314:p.Leu330Met	0					KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	p.L330M	NM_020805.1	NP_065856.1	0	1	1	1.988234	Q9P2G3	KLH14_HUMAN		3	1426	-			A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	1	1	hg19	c.988C>A	CCDS32813.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834539	0.32421	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76839	-0.29;-1.05	6.11	1.37	0.22104	6.11	1.37	0.22104	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.68943	0.3056	N	0.03983	-0.305	0.37945	D	0.932459	D	0.65815	0.995	D	0.72982	0.979	T	0.68861	-0.5297	10	0.33940	T	0.23	.	9.2446	0.37518	0.7086:0.0:0.2914:0.0	.	330	Q9P2G3	KLH14_HUMAN	M	330	ENSP00000352314:L330M;ENSP00000350808:L330M	ENSP00000350808:L330M	L	-	1	2	2	KLHL14	28575970	28575970	0.004000	0.15560	0.760000	0.31359	0.997000	0.91878	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	CTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-15.580640	1	0.170000				29	29		168	164	1		1			0	0	56	0		1	0	0	0	0	0	0	29	168
ASXL3	80816	broad.mit.edu	37	18	31324318	31324318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1502					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGCAGGGCAGACCAGTGA	0.552											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(4504-4506)ggC>ggT		additional sex combs like transcriptional regulator 3							37.0	39.0	39.0					18																	31324318		2202	4299	6501	SO:0001819	synonymous_variant	80816	0	0					g.chr18:31324318C>T	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.4506C>T	chr18.hg19:g.31324318C>T		0		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.G1502G	NM_030632.1	NP_085135.1	0	1	1	1.988234	Q9C0F0	ASXL3_HUMAN		12	4506	+			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	1	1	hg19	c.4506C>T	CCDS45847.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000				36	35		157	153	1		1	0		0	0	30	0		1	0	0	0	0	1	0	36	157
ASXL3	80816	broad.mit.edu	37	18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T	rs376309030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1739					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGGCTGTCGTCTGTCCTC	0.542																																						ENST00000269197.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(5215-5217)Cgt>Tgt		additional sex combs like transcriptional regulator 3		C	CYS/ARG	0,4064		0,0,2032	74.0	75.0	75.0		5215	5.9	0.7	18		75	1,8401		0,1,4200	no	missense	ASXL3	NM_030632.1	180	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1739/2249	31325027	1,12465	2032	4201	6233	SO:0001583	missense	80816	1	120956	31				g.chr18:31325027C>T	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.5215C>T	chr18.hg19:g.31325027C>T	ENSP00000269197:p.Arg1739Cys	0						p.R1739C	NM_030632.1	NP_085135.1	0	1	1	1.988234	Q9C0F0	ASXL3_HUMAN		12	5215	+			Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	1	1	hg19	c.5215C>T	CCDS45847.1	1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413428	0.42817	0.0	1.19E-4	ENSG00000141431	ENST00000269197	T	0.17054	2.3	5.86	5.86	0.93980	5.86	5.86	0.93980	.	.	.	.	.	T	0.34106	0.0886	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03068	-1.1076	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1739	Q9C0F0	ASXL3_HUMAN	C	1739	ENSP00000269197:R1739C	ENSP00000269197:R1739C	R	+	1	0	0	ASXL3	29579025	29579025	1.000000	0.71417	0.668000	0.29813	0.168000	0.22595	5.359000	0.66074	2.775000	0.95449	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.343612	1	0.170000				45	45		234	229	1		1	0		0	0	62	0		1	0	0	0	0	1	0	45	234
ASXL3	80816	broad.mit.edu	37	18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2168					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAGGGCAGCATCTGCAAT	0.473																																						ENST00000269197.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(6502-6504)Gca>Aca		additional sex combs like transcriptional regulator 3							150.0	154.0	152.0					18																	31326314		1906	4122	6028	SO:0001583	missense	80816	0	0					g.chr18:31326314G>A	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.6502G>A	chr18.hg19:g.31326314G>A	ENSP00000269197:p.Ala2168Thr	0						p.A2168T	NM_030632.1	NP_085135.1	0	1	1	1.988234	Q9C0F0	ASXL3_HUMAN		12	6502	+			Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	1	1	hg19	c.6502G>A	CCDS45847.1	1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699045	0.48307	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	6.17	5.31	0.75309	6.17	5.31	0.75309	.	.	.	.	.	T	0.17450	0.0419	N	0.24115	0.695	0.41608	D	0.988892	B	0.20052	0.041	B	0.20184	0.028	T	0.02654	-1.1128	9	0.54805	T	0.06	.	15.6259	0.76855	0.0653:0.0:0.9347:0.0	.	2168	Q9C0F0	ASXL3_HUMAN	T	2168	ENSP00000269197:A2168T	ENSP00000269197:A2168T	A	+	1	0	0	ASXL3	29580312	29580312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.456000	0.66665	1.634000	0.50500	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1		2	2	2	0		0	0	172		172	168	1	2.060000	-20.000000	1	0.170000				161	157		636	623	1		1			0	0	172	0		1	0	0	0	0	0	0	161	636
NOL4	8715	broad.mit.edu	37	18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000261592.5	-	10	1987	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	564						nucleolus (GO:0005730)	RNA binding (GO:0003723)			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						TTTAGCAGACCCCCTCCTAGC	0.408																																						ENST00000261592.5	0.880000	0.550000	8.000000e-01	6.300000e-01	0.710000	0.721168	0.710000	0.720000																										0				51						c.(1690-1692)Ggt>Cgt		nucleolar protein 4							187.0	164.0	172.0					18																	31463241		2203	4300	6503	SO:0001583	missense	8715	0	0					g.chr18:31463241C>G	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.1690G>C	chr18.hg19:g.31463241C>G	ENSP00000261592:p.Gly564Arg	0					NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R	p.G564R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	0	1	1	1.988234	O94818	NOL4_HUMAN		10	1987	-			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	1	1	hg19	c.1690G>C	CCDS11907.2	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338414	0.81911	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.077818	0.53938	D	0.000046	T	0.73745	0.3626	L	0.43152	1.355	0.53688	D	0.999978	P;P;P;B;D;D	0.89917	0.73;0.773;0.773;0.435;1.0;0.988	B;B;B;B;D;P	0.87578	0.316;0.316;0.232;0.157;0.998;0.824	T	0.67711	-0.5600	9	0.25751	T	0.34	-13.3835	19.8045	0.96525	0.0:1.0:0.0:0.0	.	279;490;564;279;462;345	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	564;348;279;345;490	.	ENSP00000261592:G564R	G	-	1	0	0	NOL4	29717239	29717239	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.639000	0.67868	2.676000	0.91093	0.563000	0.77884	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	1		2	2	2	0		0	0	190		190	187	1	2.060000	-3.318793	1	0.170000	NM_003787			65	63		1000	975	0		1	0		0	0	190	0		1	1.104628e-02	0	0	0	3	0	65	1000
NOL4	8715	broad.mit.edu	37	18	31523032	31523032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000261592.5	-	9	1836	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000535475.1_Silent_p.Q294Q|NOL4_ENST00000538587.1_Silent_p.Q439Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	513						nucleolus (GO:0005730)	RNA binding (GO:0003723)			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						TCAGTACCTGCTGTCTCTCCA	0.433																																						ENST00000261592.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1537-1539)caG>caA		nucleolar protein 4							105.0	93.0	97.0					18																	31523032		2203	4299	6502	SO:0001819	synonymous_variant	8715	0	0					g.chr18:31523032C>T	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.1539G>A	chr18.hg19:g.31523032C>T		0					NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000535475.1_Silent_p.Q294Q	p.Q513Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	0	1	1	1.988234	O94818	NOL4_HUMAN		9	1836	-			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	1	1	hg19	c.1539G>A	CCDS11907.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_003787			73	73		311	304	1		1	0		0	0	73	0		1	1.690207e-01	0	0	0	4	0	73	311
MYOM1	8736	broad.mit.edu	37	18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H|MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	540	Fibronectin type-III 1. {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)			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						TCCGAGAATAGGACTCCCTCC	0.438																																						ENST00000356443.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.993633	0.990000	1.000000																										0				77						c.(1618-1620)cCt>cAt		myomesin 1							65.0	65.0	65.0					18																	3154969		1902	4122	6024	SO:0001583	missense	8736	0	0					g.chr18:3154969G>T	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.1619C>A	chr18.hg19:g.3154969G>T	ENSP00000348821:p.Pro540His	0					MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H|MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H	p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	0	1	1	1.933000	P52179	MYOM1_HUMAN		11	1952	-			Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	1	1	hg19	c.1619C>A	CCDS45824.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903612	0.72754	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59772	0.24;0.24;0.24	5.01	5.01	0.66863	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259830	0.40908	D	0.000984	T	0.79782	0.4505	M	0.87827	2.91	0.40009	D	0.975262	D;D	0.76494	0.997;0.999	D;D	0.74674	0.951;0.984	D	0.84151	0.0423	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	540;540	P52179-2;P52179	.;MYOM1_HUMAN	H	540	ENSP00000348821:P540H;ENSP00000383413:P540H;ENSP00000261606:P540H	ENSP00000261606:P540H	P	-	2	0	0	MYOM1	3144969	3144969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	2.592000	0.87571	0.655000	0.94253	CCT	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_003803			21	21		79	76	1		1	1		0	0	24	0		9.999986e-01	7.075444e-01	0	8	0	3	0	21	79
MYOM1	8736	broad.mit.edu	37	18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D|MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	383					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)			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						GGAAGCCCCAGCGTGGAAGCG	0.408																																						ENST00000356443.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.996146	0.990000	1.000000																										0				77						c.(1147-1149)gCt>gAt		myomesin 1							80.0	77.0	78.0					18																	3173962		1865	4105	5970	SO:0001583	missense	8736	0	0					g.chr18:3173962G>T	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.1148C>A	chr18.hg19:g.3173962G>T	ENSP00000348821:p.Ala383Asp	0					MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D	p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	0	1	1	1.933000	P52179	MYOM1_HUMAN		8	1481	-			Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	1	1	hg19	c.1148C>A	CCDS45824.1	1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117782	0.20877	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.9;0.91;0.77	5.97	3.07	0.35406	5.97	3.07	0.35406	.	0.740364	0.13140	N	0.410730	T	0.28566	0.0707	N	0.08118	0	0.20489	N	0.999899	B;B	0.25772	0.127;0.134	B;B	0.29942	0.109;0.051	T	0.22871	-1.0204	10	0.15952	T	0.53	.	12.3769	0.55285	0.0:0.2439:0.6345:0.1216	.	383;383	P52179-2;P52179	.;MYOM1_HUMAN	D	383	ENSP00000348821:A383D;ENSP00000383413:A383D;ENSP00000261606:A383D	ENSP00000261606:A383D	A	-	2	0	0	MYOM1	3163962	3163962	0.931000	0.31567	0.010000	0.14722	0.534000	0.34807	2.833000	0.48159	0.349000	0.23975	0.655000	0.94253	GCT	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_003803			35	35		194	192	1		1	1		0	0	42	0		1	7.272991e-01	0	7	0	9	0	35	194
MYOM1	8736	broad.mit.edu	37	18	3193949	3193949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3193949C>T	ENST00000356443.4	-	3	631	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	100					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)			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						AGACTGGAATCTGTAAGTCTG	0.373																																						ENST00000356443.4	0.800000	0.160000	6.100000e-01	2.600000e-01	0.410000	0.443310	0.410000	0.370000																										0				77						c.(298-300)Gat>Aat		myomesin 1							88.0	80.0	82.0					18																	3193949		1859	4111	5970	SO:0001583	missense	8736	0	0					g.chr18:3193949C>T	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.298G>A	chr18.hg19:g.3193949C>T	ENSP00000348821:p.Asp100Asn	0					RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N	p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	0	1	1	1.933000	P52179	MYOM1_HUMAN		3	631	-			Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	0	1	hg19	c.298G>A	CCDS45824.1	0	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643507	0.14451	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.89;0.89;0.72	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.141721	0.48767	D	0.000177	T	0.32194	0.0821	N	0.24115	0.695	0.33841	D	0.631436	B;B	0.13145	0.003;0.007	B;B	0.11329	0.006;0.005	T	0.36768	-0.9734	10	0.36615	T	0.2	.	8.856	0.35227	0.2551:0.6748:0.0:0.0701	.	100;100	P52179-2;P52179	.;MYOM1_HUMAN	N	100	ENSP00000348821:D100N;ENSP00000383413:D100N;ENSP00000261606:D100N	ENSP00000261606:D100N	D	-	1	0	0	MYOM1	3183949	3183949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.017000	0.40981	2.795000	0.96236	0.655000	0.94253	GAT	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-3.318785	1	0.170000	NM_003803			5	5		132	130	0		1	1		0	0	37	0		9.362938e-01	4.051796e-01	0	4	0	29	0	5	132
NOL4	8715	broad.mit.edu	37	18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000261592.5	-	8	1570	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	425						nucleolus (GO:0005730)	RNA binding (GO:0003723)			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						GGGACCATTCGGTCCAAGTTT	0.488																																						ENST00000261592.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999806	0.990000	1.000000																										0				51						c.(1273-1275)Cga>Tga		nucleolar protein 4							90.0	74.0	80.0					18																	31537445		2203	4300	6503	SO:0001587	stop_gained	8715	0	0					g.chr18:31537445G>A	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.1273C>T	chr18.hg19:g.31537445G>A	ENSP00000261592:p.Arg425*	0					NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000535475.1_Intron	p.R425*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	0	1	1	1.988234	O94818	NOL4_HUMAN		8	1570	-			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	0	1	hg19	c.1273C>T	CCDS11907.2	1	.	.	.	.	.	.	.	.	.	.	G	40	8.247237	0.98724	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4849	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	425;140;351	.	ENSP00000261592:R425X	R	-	1	2	2	NOL4	29791443	29791443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.026760	1	0.170000	NM_003787			30	30		179	173	1		1			0	0	29	0		1	0	0	0	0	0	0	30	179
MAPRE2	10982	broad.mit.edu	37	18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000300249.5	+	4	607	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R131C	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	143	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398																																						ENST00000300249.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(427-429)Cgt>Tgt		microtubule-associated protein, RP/EB family, member 2							76.0	71.0	73.0					18																	32681940		2203	4300	6503	SO:0001583	missense	10982	0	0					g.chr18:32681940C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.427C>T	chr18.hg19:g.32681940C>T	ENSP00000300249:p.Arg143Cys	0					MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R131C	p.R143C	NM_014268.3	NP_055083.1	0	1	1	1.988234	Q15555	MARE2_HUMAN		4	607	+			B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	1	1	hg19	c.427C>T	CCDS11910.1	1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207572	0.58343	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.28	5.28	0.74379	5.28	5.28	0.74379	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.93241	3.395	0.80722	D	1	P;B;B;B	0.39282	0.666;0.058;0.152;0.093	B;B;B;B	0.37989	0.262;0.01;0.059;0.142	T	0.69859	-0.5031	10	0.52906	T	0.07	-8.5856	13.814	0.63281	0.1533:0.8467:0.0:0.0	.	131;90;143;143	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	C	100;131;143;90	ENSP00000396074:R100C;ENSP00000407723:R131C;ENSP00000300249:R143C;ENSP00000446343:R90C	ENSP00000300249:R143C	R	+	1	0	0	MAPRE2	30935938	30935938	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.717000	0.61923	2.461000	0.83175	0.561000	0.74099	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_014268			56	56		292	287	1		1	1		0	0	65	0		1	1	0	12	0	122	0	56	292
MAPRE2	10982	broad.mit.edu	37	18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000300249.5	+	7	1108	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298S	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602																																						ENST00000300249.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998876	0.990000	1.000000																										0				9						c.(928-930)Ccg>Tcg		microtubule-associated protein, RP/EB family, member 2							79.0	86.0	84.0					18																	32720277		2201	4300	6501	SO:0001583	missense	10982	0	0					g.chr18:32720277C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.928C>T	chr18.hg19:g.32720277C>T	ENSP00000300249:p.Pro310Ser	0					MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298S	p.P310S	NM_014268.3	NP_055083.1	0	1	1	1.988234	Q15555	MARE2_HUMAN		7	1108	+			B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	1	1	hg19	c.928C>T	CCDS11910.1	1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954079	0.18431	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.42513	1.0;0.97;0.99;0.97	5.42	3.55	0.40652	5.42	3.55	0.40652	.	0.426342	0.26143	N	0.026096	T	0.24353	0.0590	N	0.14661	0.345	0.31443	N	0.671777	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.17018	-1.0383	10	0.09843	T	0.71	-1.0451	14.0384	0.64660	0.0:0.7117:0.2883:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	S	267;298;310;257	ENSP00000396074:P267S;ENSP00000407723:P298S;ENSP00000300249:P310S;ENSP00000446343:P257S	ENSP00000300249:P310S	P	+	1	0	0	MAPRE2	30974275	30974275	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.233000	0.51311	0.585000	0.29608	0.563000	0.77884	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_014268			19	19		110	108	1		1	1		0	0	19	0		9.999935e-01	9.999999e-01	0	26	0	166	0	19	110
ZNF24	7572	broad.mit.edu	37	18	32917607	32917607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000261332.6	-	4	875	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_ENST00000399061.3_Silent_p.T232T|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	232					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)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGGGAAACAGGTTTCTCCAT	0.433																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(694-696)acC>acT		zinc finger protein 24							89.0	99.0	95.0					18																	32917607		2203	4298	6501	SO:0001819	synonymous_variant	7572	0	0					g.chr18:32917607G>A	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.696C>T	chr18.hg19:g.32917607G>A		0					ZNF24_ENST00000399061.3_Silent_p.T232T|ZNF24_ENST00000589881.1_3'UTR	p.T232T	NM_006965.2	NP_008896.2	0	1	1	1.988234	P17028	ZNF24_HUMAN		4	875	-			O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	1	1	hg19	c.696C>T	CCDS11912.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_006965			98	95		479	466	1		1	1		0	0	100	0		1	9.999185e-01	0	18	0	50	0	98	479
ZNF24	7572	broad.mit.edu	37	18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000261332.6	-	2	424	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M|ZNF24_ENST00000589881.1_Missense_Mutation_p.R82M	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995217	0.990000	1.000000																										0				15						c.(244-246)aGg>aTg		zinc finger protein 24							122.0	125.0	124.0					18																	32920370		2203	4300	6503	SO:0001583	missense	7572	0	0					g.chr18:32920370C>A	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.245G>T	chr18.hg19:g.32920370C>A	ENSP00000261332:p.Arg82Met	0					ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M|ZNF24_ENST00000589881.1_Missense_Mutation_p.R82M	p.R82M	NM_006965.2	NP_008896.2	0	1	1	1.988234	P17028	ZNF24_HUMAN		2	424	-			O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	1	1	hg19	c.245G>T	CCDS11912.1	1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800801	0.70567	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.06371	3.31;3.31	4.59	4.59	0.56863	4.59	4.59	0.56863	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000028	T	0.27027	0.0662	M	0.92268	3.29	0.36671	D	0.878472	D;D	0.76494	0.999;0.985	D;P	0.64237	0.923;0.764	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.8053	0.34934	0.0:0.9001:0.0:0.0999	.	82;82	P17028-2;P17028	.;ZNF24_HUMAN	M	82	ENSP00000261332:R82M;ENSP00000382015:R82M	ENSP00000261332:R82M	R	-	2	0	0	ZNF24	31174368	31174368	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.848000	0.39309	2.563000	0.86464	0.650000	0.86243	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-20.000000	1	0.170000	NM_006965			97	97		906	888	1		1	1		0	0	172	0		1	9.991318e-01	0	10	0	86	0	97	906
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000334598.7	-	2	372	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488																																						ENST00000334598.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(256-258)Ccc>Tcc		INO80 complex subunit C							169.0	152.0	158.0					18																	33060428		2203	4300	6503	SO:0001583	missense	125476	0	0					g.chr18:33060428G>A		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.256C>T	chr18.hg19:g.33060428G>A	ENSP00000334473:p.Pro86Ser	0					RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S	p.P86S	NM_194281.3	NP_919257.2	0	1	1	1.988234	Q6PI98	IN80C_HUMAN		2	372	-			B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	1	1	hg19	c.256C>T	CCDS11914.1	1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142462	0.57044	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.058844	0.64402	D	0.000001	T	0.73753	0.3627	L	0.52573	1.65	0.58432	D	0.999994	D;B;D	0.76494	0.958;0.172;0.999	P;B;D	0.68943	0.63;0.062;0.961	T	0.71938	-0.4441	9	0.46703	T	0.11	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	122;86;86	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	S	86;122;86	.	ENSP00000283410:P86S	P	-	1	0	0	INO80C	31314426	31314426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.061000	0.71148	2.857000	0.98124	0.650000	0.86243	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_194281			70	70		331	326	1		1	1		0	0	71	0		1	1	0	43	0	89	0	70	331
COLEC12	81035	broad.mit.edu	37	18	335154	335154	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	468	Collagen-like 1.				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)			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)				TCTCTCCTTTCTGTCCCTTGT	0.617																																						ENST00000400256.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1402-1404)caG>caT		collectin sub-family member 12							34.0	36.0	35.0					18																	335154		2192	4292	6484	SO:0001583	missense	81035	0	0					g.chr18:335154C>A	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.1404G>T	chr18.hg19:g.335154C>A	ENSP00000383115:p.Gln468His	0						p.Q468H	NM_130386.2	NP_569057	1	2	3	2.007506	Q5KU26	COL12_HUMAN		6	1611	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	1	1	hg19	c.1404G>T	CCDS32782.1	1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175481	0.38413	.	.	ENSG00000158270	ENST00000400256	D	0.86164	-2.08	5.66	3.86	0.44501	5.66	3.86	0.44501	.	0.100946	0.64402	D	0.000002	D	0.83797	0.5332	N	0.22421	0.69	0.40914	D	0.984257	D	0.56746	0.977	P	0.59288	0.855	T	0.82448	-0.0452	10	0.46703	T	0.11	-14.5309	4.8189	0.13381	0.1542:0.5913:0.0:0.2545	.	468	Q5KU26	COL12_HUMAN	H	468	ENSP00000383115:Q468H	ENSP00000383115:Q468H	Q	-	3	2	2	COLEC12	325154	325154	0.277000	0.24220	1.000000	0.80357	0.992000	0.81027	-0.319000	0.08039	1.376000	0.46267	0.655000	0.94253	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				66	65		292	287	1		1	0		0	0	53	0		1	8.439064e-01	0	0	0	17	0	66	292
COLEC12	81035	broad.mit.edu	37	18	335176	335176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	461	Collagen-like 1.				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)			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)				GCCAGTTGGGCCAGGGGGTCC	0.592																																						ENST00000400256.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1381-1383)gGc>gAc		collectin sub-family member 12							35.0	39.0	38.0					18																	335176		2197	4291	6488	SO:0001583	missense	81035	0	0					g.chr18:335176C>T	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.1382G>A	chr18.hg19:g.335176C>T	ENSP00000383115:p.Gly461Asp	0						p.G461D	NM_130386.2	NP_569057	1	2	3	2.007506	Q5KU26	COL12_HUMAN		6	1589	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	1	1	hg19	c.1382G>A	CCDS32782.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695493	0.48202	.	.	ENSG00000158270	ENST00000400256	D	0.99532	-6.1	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97114	0.9806	10	0.87932	D	0	-14.1091	19.543	0.95281	0.0:1.0:0.0:0.0	.	461	Q5KU26	COL12_HUMAN	D	461	ENSP00000383115:G461D	ENSP00000383115:G461D	G	-	2	0	0	COLEC12	325176	325176	1.000000	0.71417	0.795000	0.32087	0.473000	0.32948	7.764000	0.85297	2.601000	0.87937	0.591000	0.81541	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000				62	61		303	301	1		1	0		0	0	65	0		1	7.137903e-01	0	0	0	14	0	62	303
GALNT1	2589	broad.mit.edu	37	18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	12					cellular protein metabolic process (GO:0044267)|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 region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348																																						ENST00000269195.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				21						c.(34-36)Gcc>Tcc		polypeptide N-acetylgalactosaminyltransferase 1							94.0	75.0	81.0					18																	33234660		2203	4300	6503	SO:0001583	missense	2589	0	0					g.chr18:33234660G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.34G>T	chr18.hg19:g.33234660G>T	ENSP00000269195:p.Ala12Ser	0					GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	p.A12S	NM_020474.3	NP_065207.2	0	1	1	1.988234	Q10472	GALT1_HUMAN		1	137	+			Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	0	1	hg19	c.34G>T	CCDS11915.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110703	0.56398	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.55760	0.5	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.65498	2.005	0.80722	D	1	P	0.38148	0.62	B	0.43575	0.424	T	0.60900	-0.7171	10	0.51188	T	0.08	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	12	Q10472	GALT1_HUMAN	S	12	ENSP00000269195:A12S	ENSP00000269195:A12S	A	+	1	0	0	GALNT1	31488658	31488658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.819000	0.62664	2.749000	0.94314	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_020474			28	28		135	132	1		1	1		0	0	32	0		1	9.999999e-01	0	28	0	110	0	28	135
C18orf21	83608	broad.mit.edu	37	18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413																																						ENST00000592875.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(472-474)aGc>aAc		chromosome 18 open reading frame 21							89.0	86.0	87.0					18																	33557545		2203	4300	6503	SO:0001583	missense	83608	0	0					g.chr18:33557545G>A	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.473G>A	chr18.hg19:g.33557545G>A	ENSP00000465517:p.Ser158Asn	0					C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	p.S158N	NM_031446.4	NP_113634.3	0	1	1	1.988234	Q32NC0	CR021_HUMAN		4	1119	+			Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	1	1	hg19	c.473G>A	CCDS11916.2	1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540082	0.45176	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.53423	0.62	5.65	3.86	0.44501	5.65	3.86	0.44501	.	0.320112	0.40554	N	0.001075	T	0.65811	0.2727	M	0.78637	2.42	0.31608	N	0.651927	D	0.89917	1.0	D	0.85130	0.997	T	0.71094	-0.4692	10	0.72032	D	0.01	.	9.0176	0.36179	0.1709:0.0:0.8291:0.0	.	158	Q32NC0	CR021_HUMAN	N	158;70	ENSP00000269194:S70N	ENSP00000269194:S70N	S	+	2	0	0	C18orf21	31811543	31811543	0.996000	0.38824	0.993000	0.49108	0.273000	0.26683	1.985000	0.40668	0.853000	0.35312	0.650000	0.86243	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_031446			63	63		271	266	1		1	1		0	0	72	0		1	1	0	37	0	96	0	63	271
MOCOS	55034	broad.mit.edu	37	18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											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						AGGCCTGGGCGCTCTGCTGGT	0.562																																						ENST00000261326.5	0.910000	0.340000	7.500000e-01	4.500000e-01	0.590000	0.608992	0.590000	0.580000																										0				43						c.(820-822)Gct>Act		molybdenum cofactor sulfurase							52.0	49.0	50.0					18																	33780166		2203	4300	6503	SO:0001583	missense	55034	2	121412	36				g.chr18:33780166G>A	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.820G>A	chr18.hg19:g.33780166G>A	ENSP00000261326:p.Ala274Thr	0						p.A274T	NM_017947.2	NP_060417.2	0	1	1	1.988234				4	841	+				Missense_Mutation	SNP	ENST00000261326.5	1	1	hg19	c.820G>A	CCDS11919.1	0	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730474	0.89390	.	.	ENSG00000075643	ENST00000261326	D	0.87491	-2.26	5.65	5.65	0.86999	5.65	5.65	0.86999	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	0.95802	0.8634	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96869	0.9638	10	0.87932	D	0	-17.3464	17.225	0.86967	0.0:0.0:1.0:0.0	.	274	Q96EN8	MOCOS_HUMAN	T	274	ENSP00000261326:A274T	ENSP00000261326:A274T	A	+	1	0	0	MOCOS	32034164	32034164	1.000000	0.71417	0.691000	0.30163	0.516000	0.34256	9.708000	0.98727	2.677000	0.91161	0.561000	0.74099	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-15.853980	1	0.170000				14	14		267	263	0		1	1		0	0	42	0		9.997507e-01	4.512605e-01	0	4	0	25	0	14	267
MOCOS	55034	broad.mit.edu	37	18	33795562	33795562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											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						GATACATGTCGACGCTGGATG	0.542																																						ENST00000261326.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				43						c.(1417-1419)tcG>tcA		molybdenum cofactor sulfurase							72.0	71.0	71.0					18																	33795562		2203	4300	6503	SO:0001819	synonymous_variant	55034	5	121412	38				g.chr18:33795562G>A	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.1419G>A	chr18.hg19:g.33795562G>A		0						p.S473S	NM_017947.2	NP_060417.2	0	1	1	1.988234				8	1440	+				Silent	SNP	ENST00000261326.5	1	1	hg19	c.1419G>A	CCDS11919.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				36	34		191	188	1		1	1		0	0	33	0		1	9.447481e-01	0	10	0	18	0	36	191
FHOD3	80206	broad.mit.edu	37	18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000359247.4	+	2	254	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D|FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	85	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)				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)				GAGTTGGAAGGCTTCCAGGAT	0.547																																						ENST00000359247.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999639	0.990000	1.000000																										0				90						c.(253-255)gGc>gAc		formin homology 2 domain containing 3							89.0	73.0	79.0					18																	33935590		2203	4300	6503	SO:0001583	missense	80206	1	121412	26				g.chr18:33935590G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.254G>A	chr18.hg19:g.33935590G>A	ENSP00000352186:p.Gly85Asp	0					FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D	p.G85D	NM_001281739.1	NP_001268668.1	0	1	1	1.988234	Q2V2M9	FHOD3_HUMAN		2	254	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	1	1	hg19	c.254G>A		1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031482	0.93575	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	6.06	6.06	0.98353	GTPase-binding/formin homology 3 (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.52501	D	0.999959	D;D;P	0.89917	0.999;1.0;0.585	D;D;B	0.87578	0.987;0.998;0.109	T	0.12091	-1.0561	10	0.56958	D	0.05	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	85;85;85	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	D	85	ENSP00000257209:G85D;ENSP00000352186:G85D;ENSP00000411430:G85D	ENSP00000257209:G85D	G	+	2	0	0	FHOD3	32189588	32189588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.405000	0.97313	2.882000	0.98803	0.655000	0.94253	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	XM_371114			31	31		197	193	1		1	0		0	0	52	0		1	2.541422e-01	0	0	0	7	0	31	197
FHOD3	80206	broad.mit.edu	37	18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000359247.4	+	10	1160	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	387	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)				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)				TCAGCTCCCAGCTTCAAGCCC	0.607																																						ENST00000359247.4	1.000000	0.760000	1	8.500000e-01	0.950000	0.937569	0.950000	1.000000																										0				90						c.(1159-1161)aGc>aAc		formin homology 2 domain containing 3							120.0	123.0	122.0					18																	34205676		2203	4300	6503	SO:0001583	missense	80206	0	0					g.chr18:34205676G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1160G>A	chr18.hg19:g.34205676G>A	ENSP00000352186:p.Ser387Asn	0					FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N	p.S387N	NM_001281739.1	NP_001268668.1	0	1	1	1.988234	Q2V2M9	FHOD3_HUMAN		10	1160	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	1	1	hg19	c.1160G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757616	0.15846	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23754	1.89;1.89;1.89	5.18	1.13	0.20643	5.18	1.13	0.20643	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.639052	0.17160	N	0.184714	T	0.07369	0.0186	N	0.01438	-0.865	0.21802	N	0.999535	B;B;B;B	0.14805	0.005;0.0;0.0;0.011	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.38178	-0.9673	10	0.15066	T	0.55	.	6.0063	0.19549	0.1994:0.3673:0.4333:0.0	.	387;387;387;387	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	387	ENSP00000257209:S387N;ENSP00000352186:S387N;ENSP00000411430:S387N	ENSP00000257209:S387N	S	+	2	0	0	FHOD3	32459674	32459674	0.009000	0.17119	0.137000	0.22149	0.985000	0.73830	0.334000	0.19787	0.138000	0.18790	0.655000	0.94253	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1		2	2	2	0		0	0	232		232	231	1	2.060000	-17.227310	1	0.170000	XM_371114			76	76		852	837	0		1	1		0	0	232	0		1	2.301384e-01	0	2	0	9	0	76	852
FHOD3	80206	broad.mit.edu	37	18	34289191	34289191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000359247.4	+	14	1794	c.1794A>G	c.(1792-1794)gcA>gcG	p.A598A	FHOD3_ENST00000257209.4_Silent_p.A615A|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000587493.1_3'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	598					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGAGCAGGCACTAGAGCAAG	0.602																																						ENST00000359247.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(1792-1794)gcA>gcG		formin homology 2 domain containing 3							72.0	78.0	76.0					18																	34289191		2203	4300	6503	SO:0001819	synonymous_variant	80206	0	0					g.chr18:34289191A>G	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.1794A>G	chr18.hg19:g.34289191A>G		0					FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000257209.4_Silent_p.A615A	p.A598A	NM_001281739.1	NP_001268668.1	0	1	1	1.988234	Q2V2M9	FHOD3_HUMAN		14	1794	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	1	1	hg19	c.1794A>G		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	XM_371114			110	108		482	469	1		1	0		0	0	102	0		1	5.794195e-01	0	0	0	10	0	110	482
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000359247.4	+	16	2953	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	985	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)				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)				GATTAAGATCGCCATTTTGAA	0.398																																						ENST00000359247.4	1.000000	0.630000	1	7.600000e-01	0.910000	0.894335	0.910000	1.000000																										0				90						c.(2953-2955)Gcc>Acc		formin homology 2 domain containing 3							113.0	102.0	106.0					18																	34310720		2203	4300	6503	SO:0001583	missense	80206	0	0					g.chr18:34310720G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2953G>A	chr18.hg19:g.34310720G>A	ENSP00000352186:p.Ala985Thr	0					FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T	p.A985T	NM_001281739.1	NP_001268668.1	0	1	1	1.988234	Q2V2M9	FHOD3_HUMAN		16	2953	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	1	1	hg19	c.2953G>A		1	.	.	.	.	.	.	.	.	.	.	G	36	5.607431	0.96626	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23348	1.91;1.91;1.91	5.6	5.6	0.85130	5.6	5.6	0.85130	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.70461	-0.4865	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	964;985;1002	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1002;985;964	ENSP00000257209:A1002T;ENSP00000352186:A985T;ENSP00000411430:A964T	ENSP00000257209:A1002T	A	+	1	0	0	FHOD3	32564718	32564718	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.756000	0.98918	2.629000	0.89072	0.557000	0.71058	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.142702	1	0.170000	XM_371114			29	29		341	339	0		1	0		0	0	63	0		1	5.629348e-02	0	0	0	5	0	29	341
KIAA1328	57536	broad.mit.edu	37	18	34802046	34802046	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000280020.5	+	10	1612	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000591619.1_Silent_p.R526R|KIAA1328_ENST00000586135.1_3'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	530										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACCTCAGCGCTATCCCTCCA	0.498																																						ENST00000280020.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999420	0.990000	1.000000																										0				14						c.(1588-1590)cgC>cgT		KIAA1328							62.0	58.0	59.0					18																	34802046		1870	4103	5973	SO:0001819	synonymous_variant	57536	1	120830	32				g.chr18:34802046C>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1590C>T	chr18.hg19:g.34802046C>T		0					KIAA1328_ENST00000591619.1_Silent_p.R526R|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Silent_p.R422R	p.R530R	NM_020776.1	NP_065827.1	0	1	1	1.988234	Q86T90	K1328_HUMAN		10	1612	+			Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	1	1	hg19	c.1590C>T	CCDS45855.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-12.804180	1	0.170000	NM_020776			21	19		118	114	1		1	1		0	0	32	0		9.999978e-01	4.726726e-01	0	3	0	7	0	21	118
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000280020.5	+	10	1656	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541Q|KIAA1328_ENST00000586135.1_3'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478																																						ENST00000280020.5	1.000000	0.910000	1	9.900000e-01	0.990000	0.994753	0.990000	1.000000																										0				14						c.(1633-1635)cGa>cAa		KIAA1328							45.0	42.0	43.0					18																	34802090		1864	4105	5969	SO:0001583	missense	57536	6	120800	34				g.chr18:34802090G>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1634G>A	chr18.hg19:g.34802090G>A	ENSP00000280020:p.Arg545Gln	0					KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541Q|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron	p.R545Q	NM_020776.1	NP_065827.1	0	1	1	1.988234	Q86T90	K1328_HUMAN		10	1656	+			Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	1	1	hg19	c.1634G>A	CCDS45855.1	1	.	.	.	.	.	.	.	.	.	.	G	4.084	0.013449	0.07959	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.47869	0.83	5.93	-3.18	0.05186	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.31009	0.0783	L	0.50333	1.59	0.09310	N	1	B;B	0.27971	0.002;0.196	B;B	0.15052	0.002;0.012	T	0.20505	-1.0273	10	0.18276	T	0.48	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	Q	545	ENSP00000280020:R545Q	ENSP00000280020:R545Q	R	+	2	0	0	KIAA1328	33056088	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-9.538419	1	0.170000	NM_020776			14	14		88	86	1		1	0		0	0	24	0		9.998012e-01	5.653329e-01	0	1	0	12	0	14	88
CELF4	56853	broad.mit.edu	37	18	34839169	34839169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000591282.1	-	11	1307	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000420428.2_Silent_p.E436E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000601019.1_Silent_p.E434E			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	436	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGCATCAGCTCAGCGTCCC	0.562																																						ENST00000591282.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				44						c.(1306-1308)gaG>gaA		CUGBP, Elav-like family member 4							75.0	64.0	67.0					18																	34839169		2203	4300	6503	SO:0001819	synonymous_variant	56853	1	121412	31				g.chr18:34839169C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1308G>A	chr18.hg19:g.34839169C>T		0					CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000420428.2_Silent_p.E436E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000412753.1_Silent_p.E435E	p.E436E			0	1	1	1.988234	Q9BZC1	CELF4_HUMAN		11	1307	-			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	1	1	hg19	c.1308G>A	CCDS32818.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_020180			29	29		147	140	0		1	0		0	0	42	0		1	0	0	0	0	1	0	29	147
DLGAP1	9229	broad.mit.edu	37	18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	640					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGTCCTTCTTCCTGTCCTCC	0.488																																						ENST00000315677.3	0.380000	0.120000	3.100000e-01	1.700000e-01	0.230000	0.245561	0.230000	0.230000																										0				56						c.(1918-1920)Aag>Gag		discs, large (Drosophila) homolog-associated protein 1							133.0	113.0	120.0					18																	3581920		2203	4300	6503	SO:0001583	missense	9229	0	0					g.chr18:3581920T>C	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1918A>G	chr18.hg19:g.3581920T>C	ENSP00000316377:p.Lys640Glu	0					DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E	p.K640E	NM_004746.3	NP_004737.2	0	1	1	1.933000	O14490	DLGP1_HUMAN		8	2513	-		Colorectal(8;0.0257)	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	1	1	hg19	c.1918A>G	CCDS11836.1	0	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307918	0.40895	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.058235	0.64402	D	0.000002	T	0.16514	0.0397	L	0.31926	0.97	0.49483	D	0.999799	P;B;B;P;B;P;B;B	0.43231	0.801;0.166;0.005;0.684;0.242;0.763;0.242;0.203	B;B;B;B;B;B;B;B	0.40825	0.341;0.138;0.026;0.341;0.232;0.23;0.232;0.098	T	0.01626	-1.1309	10	0.46703	T	0.11	-29.3278	15.4516	0.75277	0.0:0.0:0.0:1.0	.	640;324;336;346;348;338;640;338	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	E	640;338;356;330;346;324;348;338;640	ENSP00000316377:K640E;ENSP00000383011:K338E;ENSP00000383014:K356E;ENSP00000383013:K330E;ENSP00000383019:K346E;ENSP00000437817:K324E;ENSP00000446312:K348E;ENSP00000383010:K338E;ENSP00000445973:K640E	ENSP00000316377:K640E	K	-	1	0	0	DLGAP1	3571920	3571920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.900000	0.69853	2.038000	0.60285	0.460000	0.39030	AAG	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	0	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-9.940881	1	0.170000				12	12		557	548	0		1			0	0	87	0		9.990392e-01	0	0	0	0	0	0	12	557
DLGAP1	9229	broad.mit.edu	37	18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	639					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTCCTTCTTCCTGTCCTCCgt	0.493																																						ENST00000315677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1915-1917)aGg>aTg		discs, large (Drosophila) homolog-associated protein 1							133.0	113.0	120.0					18																	3581922		2203	4300	6503	SO:0001583	missense	9229	0	0					g.chr18:3581922C>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1916G>T	chr18.hg19:g.3581922C>A	ENSP00000316377:p.Arg639Met	0					DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M	p.R639M	NM_004746.3	NP_004737.2	0	1	1	1.933000	O14490	DLGP1_HUMAN		8	2511	-		Colorectal(8;0.0257)	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	1	1	hg19	c.1916G>T	CCDS11836.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992460	0.35131	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12255	2.71;2.71;2.7;2.71;2.7;2.71;2.71;2.7;2.71	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.275715	0.41712	D	0.000840	T	0.24005	0.0581	L	0.34521	1.04	0.41063	D	0.985393	P;P;P;P;P;P;P;P	0.49696	0.882;0.927;0.923;0.882;0.923;0.856;0.923;0.905	P;P;P;P;P;B;P;P	0.56343	0.477;0.579;0.722;0.477;0.796;0.346;0.796;0.693	T	0.00662	-1.1621	10	0.34782	T	0.22	-26.0939	19.2071	0.93736	0.0:1.0:0.0:0.0	.	639;323;335;345;347;337;639;337	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	639;337;355;329;345;323;347;337;639	ENSP00000316377:R639M;ENSP00000383011:R337M;ENSP00000383014:R355M;ENSP00000383013:R329M;ENSP00000383019:R345M;ENSP00000437817:R323M;ENSP00000446312:R347M;ENSP00000383010:R337M;ENSP00000445973:R639M	ENSP00000316377:R639M	R	-	2	0	0	DLGAP1	3571922	3571922	0.987000	0.35691	1.000000	0.80357	0.969000	0.65631	1.747000	0.38298	2.520000	0.84964	0.563000	0.77884	AGG	1.078147e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-2.935596	1	0.170000				114	113		456	448	1		1			0	0	86	0		1	0	0	0	0	0	0	114	456
DLGAP1	9229	broad.mit.edu	37	18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	322					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATTCATCTTGTGGAACCTAT	0.353																																						ENST00000315677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(964-966)Caa>Taa		discs, large (Drosophila) homolog-associated protein 1							93.0	90.0	91.0					18																	3814267		2203	4300	6503	SO:0001587	stop_gained	9229	0	0					g.chr18:3814267G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.964C>T	chr18.hg19:g.3814267G>A	ENSP00000316377:p.Gln322*	0					snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*	p.Q322*	NM_004746.3	NP_004737.2	0	1	1	1.988234	O14490	DLGP1_HUMAN		5	1559	-		Colorectal(8;0.0257)	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Nonsense_Mutation	SNP	ENST00000315677.3	0	1	hg19	c.964C>T	CCDS11836.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.900017	0.97081	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.5534	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	322;20;28;30;28;34;20;20;322	.	ENSP00000316377:Q322X	Q	-	1	0	0	DLGAP1	3804267	3804267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.749000	0.85096	2.832000	0.97577	0.655000	0.94253	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				90	89		440	434	1		1			0	0	66	0		1	0	0	0	0	0	0	90	440
DLGAP1	9229	broad.mit.edu	37	18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	109					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCAGCTGCCGCTCGAACTGG	0.687																																						ENST00000315677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(325-327)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 1							37.0	42.0	40.0					18																	3879744		2170	4252	6422	SO:0001583	missense	9229	0	0					g.chr18:3879744G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.325C>T	chr18.hg19:g.3879744G>A	ENSP00000316377:p.Arg109Trp	0					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W	p.R109W	NM_004746.3	NP_004737.2	0	1	1	1.988234	O14490	DLGP1_HUMAN		4	920	-		Colorectal(8;0.0257)	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	1	1	hg19	c.325C>T	CCDS11836.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440691	0.63067	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18016	2.24;2.24	5.62	1.93	0.25924	5.62	1.93	0.25924	.	0.052268	0.85682	D	0.000000	T	0.37433	0.1003	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.67231	0.798;0.95;0.945	T	0.19549	-1.0302	10	0.87932	D	0	-26.0641	14.8458	0.70259	0.0:0.0:0.434:0.566	.	109;109;109	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	109	ENSP00000316377:R109W;ENSP00000445973:R109W	ENSP00000316377:R109W	R	-	1	2	2	DLGAP1	3869744	3869744	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	1.120000	0.31271	0.092000	0.17331	-0.181000	0.13052	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1		2	2	2	0		0	0	85		85	77	1	2.060000	-20.000000	1	0.170000				115	113		499	484	1		1			0	0	85	0		1	0	0	0	0	0	0	115	499
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000591282.1	-	7	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	310	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCATAGGTGCGGCCGCCAGG	0.657																																						ENST00000591282.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(928-930)Gca>Aca		CUGBP, Elav-like family member 4							26.0	30.0	29.0					18																	34853000		2203	4298	6501	SO:0001583	missense	56853	5	121380	33				g.chr18:34853000C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.928G>A	chr18.hg19:g.34853000C>T	ENSP00000464794:p.Ala310Thr	0					CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T	p.A310T			0	1	1	1.988234	Q9BZC1	CELF4_HUMAN		7	927	-			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	1	1	hg19	c.928G>A	CCDS32818.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382003|1.382003	0.24944|0.24944	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T;T|.	0.75477|.	-0.86;-0.88;-0.94|.	5.22|5.22	4.34|4.34	0.51931|0.51931	5.22|5.22	4.34|4.34	0.51931|0.51931	Nucleotide-binding, alpha-beta plait (1);|.	0.150427|.	0.64402|.	N|.	0.000014|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.25992|0.25992	0.78|0.78	0.48452|0.48452	D|D	0.99965|0.99965	B;B;B;B;B;B|.	0.27679|.	0.025;0.014;0.185;0.172;0.025;0.007|.	B;B;B;B;B;B|.	0.23275|.	0.022;0.008;0.021;0.045;0.014;0.004|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|6	0.10902|0.48119	T|T	0.67|0.1	-2.8965|-2.8965	10.9845|10.9845	0.47514|0.47514	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	308;299;35;300;309;310|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	T|H	310;309;308;300|192	ENSP00000406823:A309T;ENSP00000410584:A308T;ENSP00000335631:A300T|.	ENSP00000335631:A300T|ENSP00000355189:R192H	A|R	-|-	1|2	0|0	0|0	CELF4|CELF4	33106998|33106998	33106998|33106998	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.949000|2.949000	0.49074|0.49074	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GCA|CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.248933	1	0.170000	NM_020180			52	52		264	258	1		1	0		0	0	61	0		1	7.494122e-02	0	0	0	3	0	52	264
PIK3C3	5289	broad.mit.edu	37	18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	684	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2050-2052)tTt>tGt		phosphatidylinositol 3-kinase, catalytic subunit type 3							181.0	170.0	173.0					18																	39620653		2203	4300	6503	SO:0001583	missense	5289	0	0					g.chr18:39620653T>G	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.2051T>G	chr18.hg19:g.39620653T>G	ENSP00000262039:p.Phe684Cys	0	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C	p.F684C	NM_002647.2	NP_002638.2	0	1	1	1.988234	Q8NEB9	PK3C3_HUMAN		19	2137	+			Q15134	Missense_Mutation	SNP	ENST00000262039.4	1	1	hg19	c.2051T>G	CCDS11920.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117974	0.77323	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	5.74	5.74	0.90152	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.045884	0.85682	D	0.000000	D	0.86556	0.5961	L	0.49350	1.555	0.80722	D	1	P;D;P	0.89917	0.584;1.0;0.521	B;D;P	0.74348	0.382;0.983;0.493	D	0.85786	0.1364	9	.	.	.	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	621;621;684	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	C	684;621	ENSP00000262039:F684C;ENSP00000381845:F621C	.	F	+	2	0	0	PIK3C3	37874651	37874651	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.421000	0.80204	2.186000	0.69663	0.460000	0.39030	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_002647			100	96		465	465	1		1	1		0	0	99	0		1	9.999980e-01	0	21	0	67	0	100	465
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2110-2112)ttT>ttA		phosphatidylinositol 3-kinase, catalytic subunit type 3							107.0	104.0	105.0					18																	39623705		2203	4300	6503	SO:0001583	missense	5289	0	0					g.chr18:39623705T>A	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.2112T>A	chr18.hg19:g.39623705T>A	ENSP00000262039:p.Phe704Leu	0	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L	p.F704L	NM_002647.2	NP_002638.2	0	1	1	1.988234	Q8NEB9	PK3C3_HUMAN		20	2198	+			Q15134	Missense_Mutation	SNP	ENST00000262039.4	1	1	hg19	c.2112T>A	CCDS11920.1	1	.	.	.	.	.	.	.	.	.	.	T	9.354	1.066183	0.20067	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83075	-1.68;-1.68	5.46	-1.11	0.09840	5.46	-1.11	0.09840	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.177758	0.50627	D	0.000117	T	0.61060	0.2317	N	0.15975	0.35	0.80722	D	1	B;P;B	0.39576	0.019;0.679;0.016	B;B;B	0.36666	0.037;0.23;0.011	T	0.48927	-0.8991	9	.	.	.	.	5.5724	0.17204	0.1396:0.4296:0.0:0.4308	.	641;641;704	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	L	704;641	ENSP00000262039:F704L;ENSP00000381845:F641L	.	F	+	3	2	2	PIK3C3	37877703	37877703	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.018000	0.30002	-0.112000	0.11979	0.528000	0.53228	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_002647			78	76		282	277	1		1	1		0	0	60	0		1	9.999993e-01	0	18	0	59	0	78	282
SYT4	6860	broad.mit.edu	37	18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTCTTGAAAACCTGTCAAA	0.368																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(742-744)tTt>tGt		synaptotagmin IV							69.0	70.0	70.0					18																	40853651		2202	4300	6502	SO:0001583	missense	6860	0	0					g.chr18:40853651A>C	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.743T>G	chr18.hg19:g.40853651A>C	ENSP00000255224:p.Phe248Cys	0					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	p.F248C	NM_020783.3	NP_065834.1	0	1	1	1.988234	Q9H2B2	SYT4_HUMAN		2	1111	-			B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	1	1	hg19	c.743T>G	CCDS11922.1	1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884436	0.72410	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09817	2.94	5.72	5.72	0.89469	5.72	5.72	0.89469	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	0.43188	0.1236	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.54118	-0.8341	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	230;248	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	248;53	ENSP00000255224:F248C	ENSP00000255224:F248C	F	-	2	0	0	SYT4	39107649	39107649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.311000	0.77944	0.533000	0.62120	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_020783			69	69		282	278	1		1	0		0	0	60	0		1	3.977209e-02	0	0	0	2	0	69	282
SYT4	6860	broad.mit.edu	37	18	40853833	40853833	+	Silent	SNP	C	C	T	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	187	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGAGGTCATCGACTGCTCAT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(559-561)tcG>tcA		synaptotagmin IV		C		0,4406		0,0,2203	72.0	71.0	72.0		561	-11.7	0.0	18	dbSNP_134	72	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SYT4	NM_020783.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/426	40853833	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	6860	17	121412	43				g.chr18:40853833C>T	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.561G>A	chr18.hg19:g.40853833C>T		0					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	p.S187S	NM_020783.3	NP_065834.1	0	1	1	1.988234	Q9H2B2	SYT4_HUMAN		2	929	-			B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	1	1	hg19	c.561G>A	CCDS11922.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-4.052216	1	0.170000	NM_020783			72	71		257	253	1		1	0		0	0	69	0		1	3.056167e-01	0	0	0	5	0	72	257
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999886	0.990000	1.000000																										0				104						c.(2554-2556)aCg>aTg		SET binding protein 1							87.0	60.0	69.0					18																	42531860		2203	4300	6503	SO:0001583	missense	26040	1	121412	31	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	g.chr18:42531860C>T	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.2555C>T	chr18.hg19:g.42531860C>T	ENSP00000282030:p.Thr852Met	0						p.T852M	NM_015559.2	NP_056374.2	0	1	1	1.988234	Q9Y6X0	SETBP_HUMAN		4	2851	+			A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	1	1	hg19	c.2555C>T	CCDS11923.2	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	0	SETBP1	40785858	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001130110			34	31		205	201	1		1	0		0	0	52	0		1	4.335110e-01	0	0	0	10	0	34	205
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	rs145996171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GTGCGAAGTGCGGAAGATGTG	0.532									Schinzel-Giedion syndrome																													ENST00000282030.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				104						c.(4234-4236)Cgg>Tgg		SET binding protein 1							57.0	54.0	55.0					18																	42643106		2203	4300	6503	SO:0001583	missense	26040	113	121412	50	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	g.chr18:42643106C>T	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.4234C>T	chr18.hg19:g.42643106C>T	ENSP00000282030:p.Arg1412Trp	0						p.R1412W	NM_015559.2	NP_056374.2	0	1	1	1.988234	Q9Y6X0	SETBP_HUMAN		6	4530	+			A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	0	1	hg19	c.4234C>T	CCDS11923.2	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153410	0.78114	.	.	ENSG00000152217	ENST00000282030	D	0.83673	-1.75	5.27	4.38	0.52667	5.27	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	L	0.32530	0.975	0.39997	D	0.975114	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.0866	0.72158	0.1431:0.8569:0.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	W	1412	ENSP00000282030:R1412W	ENSP00000282030:R1412W	R	+	1	2	2	SETBP1	40897104	40897104	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.483000	0.53194	1.305000	0.44909	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	1	0	1		16	3	2	1		1	1	58		58	57	1	2.060000	-4.423610	1	0.170000	NM_001130110			45	43		245	235	1		1	0		1	0	58	0		9.999618e-01	6.561095e-01	0	0	0	21	0	45	245
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	C	T	rs201995847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC14A2_ENST00000586448.1_Silent_p.S442S|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	442					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)			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						CAGTGAAAAGCGGTGAAGAAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19184	0.001		0.0	False		,,,				2504	0.0					ENST00000255226.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1324-1326)agC>agT		solute carrier family 14 (urea transporter), member 2							134.0	131.0	132.0					18																	43224100		2203	4300	6503	SO:0001819	synonymous_variant	8170	4	121412	38				g.chr18:43224100C>T	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.1326C>T	chr18.hg19:g.43224100C>T		0					SLC14A2_ENST00000586448.1_Silent_p.S442S|RP11-116O18.1_ENST00000590535.1_RNA	p.S442S	NM_007163.3	NP_009094.3	0	1	1	1.988234	Q15849	UT2_HUMAN		10	2142	+			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	1	1	hg19	c.1326C>T	CCDS11924.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000				99	97		534	517	0		1			0	0	143	0		1	0	0	0	0	0	0	99	534
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	T	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC14A2_ENST00000586448.1_Silent_p.P885P|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.P362P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885					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.P885P(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						ACAAGCTCCCGCTCAGCAAAG	0.542																																						ENST00000255226.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P885P(1)	ovary(1)	63						c.(2653-2655)ccG>ccT		solute carrier family 14 (urea transporter), member 2							250.0	240.0	244.0					18																	43262376		2203	4300	6503	SO:0001819	synonymous_variant	8170	0	0					g.chr18:43262376G>T	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.2655G>T	chr18.hg19:g.43262376G>T		0					SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P|RP11-116O18.3_ENST00000589510.1_RNA	p.P885P	NM_007163.3	NP_009094.3	0	1	1	1.988234	Q15849	UT2_HUMAN		20	3471	+			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	1	1	hg19	c.2655G>T	CCDS11924.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	1	0	1		2	2	2	0		0	0	239		239	236	1	2.060000	-20.000000	1	0.170000				186	181		815	778	1		1			0	0	239	0		1	0	0	0	0	0	0	186	815
ATP5A1	498	broad.mit.edu	37	18	43669626	43669626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669626G>A	ENST00000398752.6	-	5	677	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000593152.2_Missense_Mutation_p.R136W	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	186					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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATTGGTTCCCGCACTGAAATT	0.478																																						ENST00000398752.6	0.460000	0.120000	3.600000e-01	1.800000e-01	0.260000	0.275936	0.260000	0.240000																										0				22						c.(556-558)Cgg>Tgg		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							65.0	62.0	63.0					18																	43669626		2203	4300	6503	SO:0001583	missense	498	2	121412	37				g.chr18:43669626G>A	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.556C>T	chr18.hg19:g.43669626G>A	ENSP00000381736:p.Arg186Trp	0					ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000593152.2_Missense_Mutation_p.R136W	p.R186W	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	0	1	1	1.988234	P25705	ATPA_HUMAN		5	677	-			A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	0	1	hg19	c.556C>T	CCDS11927.1	0	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848400	0.71603	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81821	-1.54;-1.54	5.16	3.33	0.38152	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.87827	2.91	0.54753	D	0.999984	D	0.60160	0.987	P	0.48952	0.596	D	0.86904	0.2056	10	0.87932	D	0	-3.2527	13.0158	0.58757	0.0:0.0:0.575:0.425	.	186	P25705	ATPA_HUMAN	W	186;186;136	ENSP00000282050:R186W;ENSP00000381736:R186W	ENSP00000282050:R186W	R	-	1	2	2	ATP5A1	41923624	41923624	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.322000	0.43814	0.546000	0.28920	0.563000	0.77884	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	0	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-2.697182	1	0.170000	NM_004046			8	8		367	360	0		1	1		0	0	51	0		9.887131e-01	9.999944e-01	0	3	0	1426	0	8	367
ATP5A1	498	broad.mit.edu	37	18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000398752.6	-	5	632	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*	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	171					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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGACCAACTCGCCTACGCGTC	0.438																																						ENST00000398752.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(511-513)Cga>Tga		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							54.0	54.0	54.0					18																	43669671		2203	4300	6503	SO:0001587	stop_gained	498	0	0					g.chr18:43669671G>A	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.511C>T	chr18.hg19:g.43669671G>A	ENSP00000381736:p.Arg171*	0					ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*	p.R171*	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	0	1	1	1.988234	P25705	ATPA_HUMAN		5	632	-			A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Nonsense_Mutation	SNP	ENST00000398752.6	0	1	hg19	c.511C>T	CCDS11927.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.968810	0.99019	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	.	.	.	5.16	4.2	0.49525	5.16	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2256	10.5373	0.45011	0.0:0.0:0.5583:0.4417	.	.	.	.	X	171;171;121	.	ENSP00000282050:R171X	R	-	1	2	2	ATP5A1	41923669	41923669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.120000	0.57897	2.411000	0.81874	0.563000	0.77884	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-3.275713	1	0.170000	NM_004046			67	66		316	307	1		1	1		0	0	60	0		1	1	0	8	0	1141	0	67	316
C18orf25	147339	broad.mit.edu	37	18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483																																						ENST00000282059.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1054-1056)Agt>Tgt		chromosome 18 open reading frame 25							175.0	155.0	162.0					18																	43842923		2026	4195	6221	SO:0001583	missense	147339	0	0					g.chr18:43842923A>T	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.1054A>T	chr18.hg19:g.43842923A>T	ENSP00000282059:p.Ser352Cys	0					C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	p.S352C	NM_145055.3	NP_659492	0	1	1	1.988234	Q96B23	CR025_HUMAN		5	1428	+			A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	1	1	hg19	c.1054A>T	CCDS42430.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986319	0.74589	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.78630	-0.2129	9	0.87932	D	0	-7.6025	14.9214	0.70841	1.0:0.0:0.0:0.0	.	291;352	Q96B23-2;Q96B23	.;CR025_HUMAN	C	352;291	.	ENSP00000282059:S352C	S	+	1	0	0	C18orf25	42096921	42096921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.584000	0.82572	1.920000	0.55613	0.460000	0.39030	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	1	0	1		2	2	2	0		0	0	81		81	77	1	2.060000	-20.000000	1	0.170000	NM_145055			65	65		353	343	1		1	1		0	0	81	0		1	9.998988e-01	0	23	0	52	0	65	353
RNF165	494470	broad.mit.edu	37	18	44035936	44035936	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44035936G>T	ENST00000269439.7	+	7	867		c.e7-1		RNF165_ENST00000543885.1_Splice_Site	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165								zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTTCTCATAGCGAAGACCCC	0.522																																						ENST00000269439.7	1.000000	0.180000	8.100000e-01	3.300000e-01	0.530000	0.568183	0.530000	1.000000																										0				11						c.e7-1		ring finger protein 165							82.0	68.0	73.0					18																	44035936		2203	4299	6502	SO:0001630	splice_region_variant	494470	0	0					g.chr18:44035936G>T	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.817-1G>T	chr18.hg19:g.44035936G>T		0					RNF165_ENST00000543885.1_Splice_Site		NM_152470.2	NP_689683.2	0	1	1	1.988234	Q6ZSG1	RN165_HUMAN		7	867	+			B3KVD1	Splice_Site	SNP	ENST00000269439.7	0	1	hg19		CCDS32823.1	0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462751	0.84425	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RNF165	42289934	42289934	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.353000	0.97080	2.218000	0.71995	0.305000	0.20034	.	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-4.024810	1	0.170000	NM_152470	Intron		4	4		90	88	0		1			0	0	19	0		8.868037e-01	0	0	0	0	0	0	4	90
ST8SIA5	29906	broad.mit.edu	37	18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	260					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)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612																																						ENST00000315087.7	1.000000	0.900000	1	9.900000e-01	0.990000	0.994314	0.990000	1.000000																										0				22						c.(778-780)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							105.0	60.0	75.0					18																	44260357		2203	4300	6503	SO:0001583	missense	29906	0	0					g.chr18:44260357C>T	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.779G>A	chr18.hg19:g.44260357C>T	ENSP00000321343:p.Arg260His	0					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	p.R260H	NM_013305.4	NP_037437.2	0	1	1	1.988234	O15466	SIA8E_HUMAN		7	1439	-			B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	0	1	hg19	c.779G>A	CCDS11930.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.571418	0.96553	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32272	1.46;1.46;1.46	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.998	T	0.63892	-0.6534	10	0.22109	T	0.4	-8.1148	19.4172	0.94706	0.0:1.0:0.0:0.0	.	229;296;260	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	260;296;229	ENSP00000321343:R260H;ENSP00000445492:R296H;ENSP00000443683:R229H	ENSP00000321343:R260H	R	-	2	0	0	ST8SIA5	42514355	42514355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	2.584000	0.87258	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_013305			20	20		145	144	1		1	0		0	0	21	0		9.999966e-01	0	0	0	0	1	0	20	145
ST8SIA5	29906	broad.mit.edu	37	18	44336397	44336397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	RP11-742D12.2_ENST00000602329.1_RNA|ST8SIA5_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_Silent_p.A25A|RP11-742D12.2_ENST00000602333.1_RNA	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					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)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612																																						ENST00000315087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(73-75)gcC>gcT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							110.0	103.0	105.0					18																	44336397		2203	4300	6503	SO:0001819	synonymous_variant	29906	0	0					g.chr18:44336397G>A	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.75C>T	chr18.hg19:g.44336397G>A		0					ST8SIA5_ENST00000538168.1_Silent_p.A25A|RP11-742D12.2_ENST00000602329.1_RNA|RP11-742D12.2_ENST00000602333.1_RNA|ST8SIA5_ENST00000536490.1_Silent_p.A25A	p.A25A	NM_013305.4	NP_037437.2	0	1	1	1.988234	O15466	SIA8E_HUMAN		1	735	-			B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	1	1	hg19	c.75C>T	CCDS11930.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_013305			64	64		349	348	1		1			0	0	85	0		1	0	0	0	0	0	0	64	349
PIAS2	9063	broad.mit.edu	37	18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	133					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GAGATGGCTGCTGCATCTCAA	0.473																																						ENST00000585916.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(397-399)caG>caT		protein inhibitor of activated STAT, 2							110.0	88.0	95.0					18																	44470643		2203	4300	6503	SO:0001583	missense	9063	0	0					g.chr18:44470643C>A	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.399G>T	chr18.hg19:g.44470643C>A	ENSP00000465676:p.Gln133His	0					PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H|PIAS2_ENST00000545673.1_Intron	p.Q133H	NM_004671.3	NP_004662.2	0	1	1	1.988234	O75928	PIAS2_HUMAN		2	398	-			O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	1	1	hg19	c.399G>T	CCDS32824.1	1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154880	0.38021	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.050470	0.85682	D	0.000000	T	0.27798	0.0684	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26512	0.012;0.007;0.151;0.057	B;B;B;B	0.25884	0.012;0.005;0.064;0.029	T	0.02477	-1.1153	10	0.42905	T	0.14	-6.6939	20.6244	0.99512	0.0:1.0:0.0:0.0	.	137;133;133;133	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	133;133;129;133	ENSP00000317163:Q133H	ENSP00000262161:Q133H	Q	-	3	2	2	PIAS2	42724641	42724641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.066000	0.50002	2.879000	0.98667	0.650000	0.86243	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_004671			41	40		170	166	1		1	1		0	0	44	0		1	9.988573e-01	0	10	0	36	0	41	170
PIAS2	9063	broad.mit.edu	37	18	44470901	44470901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.S47S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	47					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGCAGCCGCTCTTCAATA	0.443																																						ENST00000585916.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999762	0.990000	1.000000																										0				22						c.(139-141)agC>agT		protein inhibitor of activated STAT, 2							69.0	71.0	71.0					18																	44470901		2203	4300	6503	SO:0001819	synonymous_variant	9063	0	0					g.chr18:44470901G>A	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.141C>T	chr18.hg19:g.44470901G>A		0					PIAS2_ENST00000324794.7_Silent_p.S47S|PIAS2_ENST00000545673.1_Intron	p.S47S	NM_004671.3	NP_004662.2	0	1	1	1.988234	O75928	PIAS2_HUMAN		2	140	-			O75927|Q96BT5|Q96KE3	Silent	SNP	ENST00000585916.1	1	1	hg19	c.141C>T	CCDS32824.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-2.920854	1	0.170000	NM_004671			64	63		483	481	1		1	0		0	0	99	0		1	8.786451e-01	0	1	0	29	0	64	483
TCEB3CL	728929	broad.mit.edu	37	18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587																																						ENST00000451265.1	0.500000	0.330000	4.600000e-01	3.700000e-01	0.410000	0.418076	0.410000	0.410000																										1	Substitution - Missense(1)	p.T371M(1)	lung(1)	3						c.(1111-1113)aCg>aTg		transcription elongation factor B polypeptide 3C-like							260.0	221.0	234.0					18																	44549187		1740	3470	5210	SO:0001583	missense	728929	0	0					g.chr18:44549187G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1112C>T	chr18.hg19:g.44549187G>A	ENSP00000409932:p.Thr371Met	0					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.T371M	NM_001100817.1	NP_001094287.1	0	1	1	1.988234	Q3SY89	EA3L1_HUMAN		1	1347	-			Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	1	1	hg19	c.1112C>T	CCDS42433.1	0	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	0	TCEB3CL	42803185	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	0	0	0		2	2	2	0		0	0	482		482	775	1	2.060000	-4.214585	1	0.170000	XM_001132059			97	96		2642	2603	0		1			0	0	482	0		1	0	0	0	0	0	0	97	2642
TCEB3B	51224	broad.mit.edu	37	18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000332567.4	-	1	2577	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	742					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)			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						GTCTCGAATTGCCTTGGCCAT	0.567																																						ENST00000332567.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(2224-2226)gCa>gTa		transcription elongation factor B polypeptide 3B (elongin A2)							68.0	75.0	73.0					18																	44559411		2203	4296	6499	SO:0001583	missense	51224	0	0					g.chr18:44559411G>A	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.2225C>T	chr18.hg19:g.44559411G>A	ENSP00000331302:p.Ala742Val	0					TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A742V	NM_016427.2	NP_057511.2	0	1	1	1.988234	Q8IYF1	ELOA2_HUMAN		1	2577	-			Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	1	1	hg19	c.2225C>T	CCDS11932.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078773	0.36662	.	.	ENSG00000206181	ENST00000332567	T	0.07567	3.18	1.62	-0.654	0.11443	1.62	-0.654	0.11443	.	0.693792	0.11843	N	0.524097	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	D	0.58268	0.982	P	0.54664	0.758	T	0.19386	-1.0307	10	0.41790	T	0.15	-1.6528	3.5071	0.07695	0.0:0.2844:0.4274:0.2882	.	742	Q8IYF1	ELOA2_HUMAN	V	742	ENSP00000331302:A742V	ENSP00000331302:A742V	A	-	2	0	0	TCEB3B	42813409	42813409	0.186000	0.23225	0.001000	0.08648	0.002000	0.02628	0.417000	0.21214	-0.196000	0.10366	-0.222000	0.12452	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	1	0	1		2	2	2	0		0	0	175		175	170	1	2.060000	-20.000000	1	0.170000	NM_016427			141	138		732	714	1		1			0	0	175	0		1	0	0	0	0	0	0	141	732
TCEB3B	51224	broad.mit.edu	37	18	44560824	44560824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44560824G>T	ENST00000332567.4	-	1	1164	c.812C>A	c.(811-813)gCc>gAc	p.A271D	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	271					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)			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						CCTGTCCCTGGCACTTGCCCA	0.607																																						ENST00000332567.4	0.540000	0.250000	4.600000e-01	3.100000e-01	0.380000	0.395012	0.380000	0.390000																										0				58						c.(811-813)gCc>gAc		transcription elongation factor B polypeptide 3B (elongin A2)							77.0	83.0	81.0					18																	44560824		2203	4300	6503	SO:0001583	missense	51224	0	0					g.chr18:44560824G>T	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.812C>A	chr18.hg19:g.44560824G>T	ENSP00000331302:p.Ala271Asp	0					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A271D	NM_016427.2	NP_057511.2	0	1	1	1.988234	Q8IYF1	ELOA2_HUMAN		1	1164	-			Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	1	1	hg19	c.812C>A	CCDS11932.1	0	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727164	0.30593	.	.	ENSG00000206181	ENST00000332567	T	0.08896	3.04	1.95	-0.817	0.10836	1.95	-0.817	0.10836	.	1.007460	0.08007	U	0.989744	T	0.07908	0.0198	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	P	0.46685	0.524	T	0.41627	-0.9498	10	0.36615	T	0.2	.	8.5403	0.33388	0.0:0.6645:0.3355:0.0	.	271	Q8IYF1	ELOA2_HUMAN	D	271	ENSP00000331302:A271D	ENSP00000331302:A271D	A	-	2	0	0	TCEB3B	42814822	42814822	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.232000	0.09811	0.462000	0.41574	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	0	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-3.203239	1	0.170000	NM_016427			28	27		825	806	0		1			0	0	164	0		1	0	0	0	0	0	0	28	825
TCEB3B	51224	broad.mit.edu	37	18	44561072	44561072	+	Silent	SNP	C	C	T	rs529402856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	ENST00000332567.4	-	1	916	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	188					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)			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						GCTTCCCGGGCGCAGCGGGCT	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		13156	0.002		0.0	False		,,,				2504	0.0					ENST00000332567.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(562-564)gcG>gcA		transcription elongation factor B polypeptide 3B (elongin A2)							24.0	28.0	27.0					18																	44561072		2188	4282	6470	SO:0001819	synonymous_variant	51224	0	0					g.chr18:44561072C>T	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.564G>A	chr18.hg19:g.44561072C>T		0					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A188A	NM_016427.2	NP_057511.2	0	1	1	1.988234	Q8IYF1	ELOA2_HUMAN		1	916	-			Q9P2V9	Silent	SNP	ENST00000332567.4	1	1	hg19	c.564G>A	CCDS11932.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_016427			62	62		287	280	0		1			0	0	62	0		1	0	0	0	0	0	0	62	287
HDHD2	84064	broad.mit.edu	37	18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T	rs374468528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	IER3IP1_ENST00000588705.1_3'UTR|HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	5						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408																																						ENST00000300605.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				6						c.(13-15)cGt>cAt		haloacid dehalogenase-like hydrolase domain containing 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	90.0	96.0		14	4.9	1.0	18		96	0,8600		0,0,4300	no	missense	HDHD2	NM_032124.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	5/260	44662797	1,13005	2203	4300	6503	SO:0001583	missense	84064	4	121412	38				g.chr18:44662797C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.14G>A	chr18.hg19:g.44662797C>T	ENSP00000300605:p.Arg5His	0					HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	p.R5H	NM_032124.4	NP_115500.1	0	1	1	1.988234	Q9H0R4	HDHD2_HUMAN		2	166	-			A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	1	1	hg19	c.14G>A	CCDS32829.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345040	0.61073	2.27E-4	0.0	ENSG00000167220	ENST00000300605	T	0.32988	1.43	5.76	4.88	0.63580	5.76	4.88	0.63580	HAD-like domain (1);	0.652062	0.15970	N	0.235809	T	0.27384	0.0672	L	0.41824	1.3	0.53688	D	0.999979	B	0.29037	0.231	B	0.21151	0.033	T	0.08638	-1.0712	10	0.72032	D	0.01	-0.0751	15.0729	0.72053	0.0:0.931:0.0:0.069	.	5	Q9H0R4	HDHD2_HUMAN	H	5	ENSP00000300605:R5H	ENSP00000300605:R5H	R	-	2	0	0	HDHD2	42916795	42916795	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	2.720000	0.93068	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.332034	1	0.170000	NM_032124			37	36		207	204	1		1	1		0	0	63	0		1	9.998969e-01	0	15	0	66	0	37	207
SMAD7	4092	broad.mit.edu	37	18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557																																						ENST00000262158.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(940-942)Cgg>Tgg		SMAD family member 7							78.0	59.0	65.0					18																	46448083		2203	4300	6503	SO:0001583	missense	4092	0	0					g.chr18:46448083G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.940C>T	chr18.hg19:g.46448083G>A	ENSP00000262158:p.Arg314Trp	0					SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W	p.R314W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	0	1	1	1.988234	O15105	SMAD7_HUMAN		4	1226	-	Colorectal(1;0.0518)		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	1	1	hg19	c.940C>T	CCDS11936.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796564	0.70567	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99698	-6.44	5.66	4.78	0.61160	5.66	4.78	0.61160	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97312	0.9938	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.866:0.134	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	W	99;314	ENSP00000262158:R314W	ENSP00000262158:R314W	R	-	1	2	2	SMAD7	44702081	44702081	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.740000	0.74832	1.359000	0.45940	0.591000	0.81541	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_005904			48	48		255	251	1		1	1		0	0	52	0		1	9.999998e-01	0	8	0	119	0	48	255
SMAD7	4092	broad.mit.edu	37	18	46448237	46448237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000589634.1_Silent_p.C261C|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	262	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.C262C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537																																						ENST00000262158.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C262C(1)	large_intestine(1)	10						c.(784-786)tgC>tgT		SMAD family member 7							50.0	55.0	54.0					18																	46448237		2199	4298	6497	SO:0001819	synonymous_variant	4092	1	121386	29				g.chr18:46448237G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.786C>T	chr18.hg19:g.46448237G>A		0					SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C	p.C262C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	0	1	1	1.988234	O15105	SMAD7_HUMAN		4	1072	-	Colorectal(1;0.0518)		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	1	1	hg19	c.786C>T	CCDS11936.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.327646	1	0.170000	NM_005904			43	43		241	236	0		1	1		0	0	75	0		1	9.999995e-01	0	6	0	121	0	43	241
DYM	54808	broad.mit.edu	37	18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	328					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363																																						ENST00000269445.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(982-984)tTc>tAc		dymeclin							101.0	95.0	97.0					18																	46808509		2203	4300	6503	SO:0001583	missense	54808	0	0					g.chr18:46808509A>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.983T>A	chr18.hg19:g.46808509A>T	ENSP00000269445:p.Phe328Tyr	0					DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	p.F328Y	NM_017653.3	NP_060123.3	0	1	1	1.988234	Q7RTS9	DYM_HUMAN		10	1440	-			A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	1	1	hg19	c.983T>A	CCDS11937.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.220756	0.95139	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.087292	0.85682	D	0.000000	D	0.91140	0.7210	M	0.82056	2.57	0.80722	D	1	D;D;D	0.67145	0.99;0.991;0.996	P;D;P	0.74023	0.844;0.982;0.842	D	0.92346	0.5885	10	0.87932	D	0	-21.8803	15.9991	0.80275	1.0:0.0:0.0:0.0	.	138;150;328	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	Y	138;328	ENSP00000395942:F138Y;ENSP00000269445:F328Y	ENSP00000269445:F328Y	F	-	2	0	0	DYM	45062507	45062507	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.171000	0.94802	2.240000	0.73641	0.472000	0.43445	TTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_017653			46	44		236	228	1		1	1		0	0	51	0		1	9.999992e-01	0	28	0	84	0	46	236
DYM	54808	broad.mit.edu	37	18	46812850	46812850	+	Silent	SNP	C	C	T	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483																																						ENST00000269445.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(898-900)gcG>gcA		dymeclin							105.0	117.0	113.0					18																	46812850		2203	4300	6503	SO:0001819	synonymous_variant	54808	2	121412	41				g.chr18:46812850C>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.900G>A	chr18.hg19:g.46812850C>T		0					DYM_ENST00000442713.2_Silent_p.A110A	p.A300A	NM_017653.3	NP_060123.3	0	1	1	1.988234	Q7RTS9	DYM_HUMAN		9	1357	-			A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	1	1	hg19	c.900G>A	CCDS11937.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-3.280124	1	0.170000	NM_017653			130	128		528	521	1		1	1		0	0	143	0		1	1	0	33	0	98	0	130	528
LIPG	9388	broad.mit.edu	37	18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000261292.4	+	2	439	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000427224.2_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	54					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(160-162)cGc>cAc		lipase, endothelial							118.0	96.0	103.0					18																	47091750		2203	4300	6503	SO:0001583	missense	9388	0	0					g.chr18:47091750G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.161G>A	chr18.hg19:g.47091750G>A	ENSP00000261292:p.Arg54His	0					LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000427224.2_Missense_Mutation_p.R54H	p.R54H	NM_006033.2	NP_006024.1	0	1	1	1.988234	Q9Y5X9	LIPE_HUMAN		2	439	+			B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	1	1	hg19	c.161G>A	CCDS11938.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013161	0.35511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.34	1.49	0.22878	5.34	1.49	0.22878	Lipase, N-terminal (1);	0.251674	0.44688	D	0.000424	T	0.78381	0.4274	N	0.16066	0.365	0.30685	N	0.751944	B;B;B	0.24768	0.024;0.111;0.099	B;B;B	0.25291	0.027;0.059;0.024	T	0.68123	-0.5492	10	0.37606	T	0.19	-24.4886	4.4407	0.11573	0.2138:0.0:0.5156:0.2705	.	54;54;54	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	54	ENSP00000261292:R54H;ENSP00000387978:R54H	ENSP00000261292:R54H	R	+	2	0	0	LIPG	45345748	45345748	0.998000	0.40836	0.898000	0.35279	0.772000	0.43724	3.609000	0.54117	-0.010000	0.14271	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_006033			52	52		223	221	1		1	0		0	0	73	0		1	7.356288e-01	0	0	0	13	0	52	223
LIPG	9388	broad.mit.edu	37	18	47101920	47101920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000261292.4	+	5	1031	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.G287G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	251					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(751-753)ggC>ggT		lipase, endothelial							85.0	69.0	75.0					18																	47101920		2203	4300	6503	SO:0001819	synonymous_variant	9388	0	0					g.chr18:47101920C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.753C>T	chr18.hg19:g.47101920C>T		0					LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000427224.2_Intron	p.G251G	NM_006033.2	NP_006024.1	0	1	1	1.988234	Q9Y5X9	LIPE_HUMAN		5	1031	+			B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	1	1	hg19	c.753C>T	CCDS11938.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_006033			41	41		180	175	1		1	1		0	0	62	0		1	8.477075e-01	0	4	0	13	0	41	180
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000261292.4	+	8	1562	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1282-1284)aaG>aaT		lipase, endothelial							78.0	69.0	72.0					18																	47110052		2203	4300	6503	SO:0001583	missense	9388	0	0					g.chr18:47110052G>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1284G>T	chr18.hg19:g.47110052G>T	ENSP00000261292:p.Lys428Asn	0					LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	p.K428N	NM_006033.2	NP_006024.1	0	1	1	1.988234	Q9Y5X9	LIPE_HUMAN		8	1562	+			B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	1	1	hg19	c.1284G>T	CCDS11938.1	1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806250	0.16467	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86694	-2.16;-1.68	5.6	-1.66	0.08265	5.6	-1.66	0.08265	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.531819	0.23813	N	0.044313	T	0.61515	0.2353	N	0.05351	-0.065	0.09310	N	0.999991	B;B	0.17465	0.013;0.022	B;B	0.20955	0.032;0.02	T	0.54576	-0.8273	10	0.02654	T	1	-8.2979	1.0417	0.01560	0.2629:0.1916:0.3436:0.2018	.	354;428	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	N	428;354	ENSP00000261292:K428N;ENSP00000387978:K354N	ENSP00000261292:K428N	K	+	3	2	2	LIPG	45364050	45364050	0.273000	0.24181	0.508000	0.27688	0.968000	0.65278	0.040000	0.13905	-0.211000	0.10124	0.561000	0.74099	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	0	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_006033			54	53		177	170	1		1	1		0	0	51	0		1	9.865400e-01	0	3	0	22	0	54	177
LIPG	9388	broad.mit.edu	37	18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000261292.4	+	8	1570	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(1291-1293)cGc>cAc		lipase, endothelial							72.0	64.0	67.0					18																	47110060		2203	4300	6503	SO:0001583	missense	9388	0	0					g.chr18:47110060G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1292G>A	chr18.hg19:g.47110060G>A	ENSP00000261292:p.Arg431His	0					LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	p.R431H	NM_006033.2	NP_006024.1	0	1	1	1.988234	Q9Y5X9	LIPE_HUMAN		8	1570	+			B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	1	1	hg19	c.1292G>A	CCDS11938.1	1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683239	0.68157	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86627	-2.15;-1.64	5.38	4.51	0.55191	5.38	4.51	0.55191	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.90525	0.7031	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.912	D	0.89655	0.3872	10	0.51188	T	0.08	-20.9923	8.7691	0.34722	0.2273:0.0:0.7727:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	431;357	ENSP00000261292:R431H;ENSP00000387978:R357H	ENSP00000261292:R431H	R	+	2	0	0	LIPG	45364058	45364058	0.005000	0.15991	1.000000	0.80357	0.965000	0.64279	1.242000	0.32755	1.274000	0.44362	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_006033			37	36		172	167	1		1	1		0	0	41	0		1	9.272892e-01	0	4	0	19	0	37	172
MYO5B	4645	broad.mit.edu	37	18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T	rs373990722		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1733	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)			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)		GTCTGAACTGCTCCACTCTGG	0.507																																						ENST00000285039.7	1.000000	0.960000	1	9.900000e-01	0.990000	0.997561	0.990000	1.000000																										0				87						c.(5197-5199)Gca>Aca		myosin VB		C	THR/ALA	0,3860		0,0,1930	70.0	66.0	67.0		5197	5.0	0.9	18		67	1,8255		0,1,4127	no	missense	MYO5B	NM_001080467.2	58	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1733/1849	47363197	1,12115	1930	4128	6058	SO:0001583	missense	4645	1	120850	32				g.chr18:47363197C>T	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.5197G>A	chr18.hg19:g.47363197C>T	ENSP00000285039:p.Ala1733Thr	0					SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T	p.A1733T	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		38	5496	-			B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	1	1	hg19	c.5197G>A	CCDS42436.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.337726	0.95758	0.0	1.21E-4	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87729	-2.29;2.27	4.98	4.98	0.66077	4.98	4.98	0.66077	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000002	D	0.93249	0.7849	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.988;1.0	P;D	0.97110	0.893;1.0	D	0.93336	0.6705	10	0.59425	D	0.04	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1733;848	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	1733;848	ENSP00000285039:A1733T;ENSP00000315531:A848T	ENSP00000285039:A1733T	A	-	1	0	0	MYO5B	45617195	45617195	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.913000	0.69957	2.738000	0.93877	0.655000	0.94253	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				31	31		231	225	1		1	1		0	0	37	0		1	9.999940e-01	0	54	0	89	0	31	231
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	G	A	rs199837997	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	MYO5B_ENST00000592688.1_Silent_p.N260N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)			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)		GAGTCACTGCGTTGATCATGT	0.512													G|||	4	0.000798722	0.0	0.0058	5008	,	,		23021	0.0		0.0	False		,,,				2504	0.0					ENST00000285039.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(5068-5070)aaC>aaT		myosin VB		G		1,4077		0,1,2038	68.0	65.0	66.0		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG		0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant	4645	13	120954	41				g.chr18:47363955G>A	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.5070C>T	chr18.hg19:g.47363955G>A		0					SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	p.N1690N	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		37	5369	-			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	1	1	hg19	c.5070C>T	CCDS42436.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				53	53		199	191	0		1	1		0	0	44	0		1	1	0	51	0	97	0	53	199
MYO5B	4645	broad.mit.edu	37	18	47373547	47373547	+	Silent	SNP	G	G	A	rs576835999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	MYO5B_ENST00000592688.1_Silent_p.D46D|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1476					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)			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)		GGAGGGCCTCGTCCTCTTTGT	0.612																																						ENST00000285039.7	1.000000	0.710000	1	8.500000e-01	0.990000	0.947166	0.990000	1.000000																										0				87						c.(4426-4428)gaC>gaT		myosin VB							83.0	92.0	89.0					18																	47373547		2122	4219	6341	SO:0001819	synonymous_variant	4645	1	121104	34				g.chr18:47373547G>A	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.4428C>T	chr18.hg19:g.47373547G>A		0					SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	p.D1476D	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		33	4727	-			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	1	1	hg19	c.4428C>T	CCDS42436.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-10.811180	1	0.170000				33	31		347	334	0		1	1		0	0	54	0		1	9.999896e-01	0	35	0	151	0	33	347
MYO5B	4645	broad.mit.edu	37	18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1215					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)			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)		CTCATTCAGGTCATTCTTCAG	0.572																																						ENST00000285039.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(3643-3645)gAc>gGc		myosin VB							137.0	148.0	144.0					18																	47390710		2013	4176	6189	SO:0001583	missense	4645	0	0					g.chr18:47390710T>C	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.3644A>G	chr18.hg19:g.47390710T>C	ENSP00000285039:p.Asp1215Gly	0					MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	p.D1215G	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		28	3943	-			B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	1	1	hg19	c.3644A>G	CCDS42436.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636939	0.87760	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.225560	0.44688	D	0.000437	T	0.33294	0.0858	M	0.71036	2.16	0.80722	D	1	B;P	0.35456	0.091;0.502	B;B	0.42188	0.21;0.379	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1215;356	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1215;356	ENSP00000285039:D1215G;ENSP00000315531:D356G	ENSP00000285039:D1215G	D	-	2	0	0	MYO5B	45644708	45644708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	0	0	1		29	5	2	1		1	1	204		204	203	1	2.060000	-20.000000	1	0.170000				225	223		1085	1071	1		1	1		1	0	204	0		1	9.997588e-01	0	34	0	58	0	225	1085
MYO5B	4645	broad.mit.edu	37	18	47398552	47398552	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.A337A|Y_RNA_ENST00000364798.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1196					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)			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)		GACTATTGTAGGCCAGATCTG	0.507																																						ENST00000285039.7	0.470000	0.280000	4.200000e-01	3.200000e-01	0.370000	0.378970	0.370000	0.370000																										0				87						c.(3586-3588)gcC>gcA		myosin VB							368.0	354.0	358.0					18																	47398552		1946	4133	6079	SO:0001819	synonymous_variant	4645	0	0					g.chr18:47398552G>T	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.3588C>A	chr18.hg19:g.47398552G>T		0					MYO5B_ENST00000587895.1_5'UTR|Y_RNA_ENST00000364798.1_RNA|MYO5B_ENST00000324581.6_Silent_p.A337A	p.A1196A	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		27	3887	-			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	1	1	hg19	c.3588C>A	CCDS42436.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	0	0	1		2	2	2	0		0	0	481		481	479	1	2.060000	-3.070155	1	0.170000				67	64		2028	1987	0		1	1		0	0	481	0		1	6.981754e-01	0	5	0	70	0	67	2028
MYO5B	4645	broad.mit.edu	37	18	47429162	47429162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	871	Arg-rich.|IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)			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)		TCCAGCCCCGCACGTGCTTCT	0.607																																						ENST00000285039.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(2611-2613)gtG>gtA		myosin VB							25.0	28.0	27.0					18																	47429162		2053	4201	6254	SO:0001819	synonymous_variant	4645	1	120954	31				g.chr18:47429162C>T	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.2613G>A	chr18.hg19:g.47429162C>T		0					MYO5B_ENST00000324581.6_Silent_p.V12V	p.V871V	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		21	2912	-			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	1	1	hg19	c.2613G>A	CCDS42436.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000				42	42		139	137	1		1	1		0	0	31	0		1	9.999889e-01	0	23	0	39	0	42	139
MYO5B	4645	broad.mit.edu	37	18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	419	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)			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)		TTGTTGATGTGCTCCACAATC	0.582																																						ENST00000285039.7	0.800000	0.340000	6.800000e-01	4.300000e-01	0.540000	0.560346	0.540000	0.530000																										0				87						c.(1255-1257)Cac>Tac		myosin VB							139.0	150.0	147.0					18																	47500787		2176	4264	6440	SO:0001583	missense	4645	0	0					g.chr18:47500787G>A	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.1255C>T	chr18.hg19:g.47500787G>A	ENSP00000285039:p.His419Tyr	0						p.H419Y	NM_001080467.2	NP_001073936.1	0	1	1	1.988234	Q9ULV0	MYO5B_HUMAN		10	1554	-			B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	1	1	hg19	c.1255C>T	CCDS42436.1	0	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708535	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87256	-2.23	5.5	5.5	0.81552	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48218	1.51	0.80722	D	1	B;B	0.25667	0.131;0.001	P;B	0.46419	0.516;0.006	D	0.84433	0.0578	10	0.21014	T	0.42	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	418;419	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	419;418	ENSP00000285039:H419Y	ENSP00000285039:H419Y	H	-	1	0	0	MYO5B	45754785	45754785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	CAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-4.664761	1	0.170000				19	19		392	388	1		1	1		0	0	79	0		9.999902e-01	7.486629e-01	0	9	0	48	0	19	392
CFAP53	220136	broad.mit.edu	37	18	47787442	47787442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTGAATTGCTGGTCTAGCT	0.313																																						ENST00000398545.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(463-465)caG>caA									162.0	157.0	158.0					18																	47787442		1817	4077	5894	SO:0001819	synonymous_variant	0	0	0					g.chr18:47787442C>T																												ENST00000398545.4:c.465G>A	chr18.hg19:g.47787442C>T		0						p.Q155Q	NM_145020.3	NP_659457.2	0	1	1	1.988234				3	582	-				Silent	SNP	ENST00000398545.4	1	1	hg19	c.465G>A	CCDS11940.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				130	121		572	562	1		1	0		0	0	93	0		1	3.484043e-02	0	1	0	1	0	130	572
MBD1	4152	broad.mit.edu	37	18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	18	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AAAGACTTCGCGGCGCTTCCA	0.632																																						ENST00000591416.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				36						c.(52-54)cGc>cAc		methyl-CpG binding domain protein 1							39.0	38.0	38.0					18																	47806310		2203	4300	6503	SO:0001583	missense	4152	1	121412	32				g.chr18:47806310C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.53G>A	chr18.hg19:g.47806310C>T	ENSP00000467017:p.Arg18His	0					MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H	p.R18H			0	1	1	1.988234	Q9UIS9	MBD1_HUMAN		2	484	-			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	1	1	hg19	c.53G>A	CCDS11943.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422881	0.83559	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.35	4.35	0.52113	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.48286	D	0.000200	D	0.99168	0.9712	M	0.65320	2	0.39293	D	0.964775	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	0.97110	1.0;0.995;0.999;1.0;0.999;0.997;0.997;0.996;1.0;0.997;1.0	D	0.99880	1.1112	10	0.87932	D	0	-9.431	14.7516	0.69530	0.0:1.0:0.0:0.0	.	18;44;18;18;18;18;18;18;18;18;18	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	18;18;18;18;18;18;18;44;18;18;18;18;18	ENSP00000372407:R18H;ENSP00000269469:R18H;ENSP00000342531:R18H;ENSP00000269468:R18H;ENSP00000285102:R18H;ENSP00000409561:R18H;ENSP00000269471:R18H;ENSP00000408846:R44H;ENSP00000339546:R18H;ENSP00000381508:R18H;ENSP00000405268:R18H;ENSP00000381506:R18H;ENSP00000381502:R18H	ENSP00000269468:R18H	R	-	2	0	0	MBD1	46060308	46060308	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.952000	0.56691	2.143000	0.66587	0.467000	0.42956	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_015846			44	43		240	234	1		1	1		0	0	48	0		1	1	0	49	0	105	0	44	240
CXXC1	30827	broad.mit.edu	37	18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	522					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTTCAATGCGTGTGGGGTA	0.592																																						ENST00000285106.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				24						c.(1564-1566)cGc>cAc		CXXC finger protein 1							87.0	60.0	69.0					18																	47809894		2203	4300	6503	SO:0001583	missense	30827	1	121412	28				g.chr18:47809894C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1565G>A	chr18.hg19:g.47809894C>T	ENSP00000285106:p.Arg522His	0					CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000424334.2_5'Flank	p.R522H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	0	1	1	1.988234	Q9P0U4	CXXC1_HUMAN		12	2279	-			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	1	1	hg19	c.1565G>A	CCDS11945.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543446	0.86022	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26067	1.76;1.76	4.49	4.49	0.54785	4.49	4.49	0.54785	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.974;0.98	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.1822	15.0406	0.71788	0.0:1.0:0.0:0.0	.	526;522;389	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	522;526	ENSP00000285106:R522H;ENSP00000390475:R526H	ENSP00000285106:R522H	R	-	2	0	0	CXXC1	46063892	46063892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.054000	0.76649	2.212000	0.71576	0.467000	0.42956	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_014593			26	24		119	117	1		1	1		0	0	27	0		9.999999e-01	1	0	46	0	123	0	26	119
COLEC12	81035	broad.mit.edu	37	18	480749	480749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	6					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)			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)				TCCTCCTCTGCGAAGTCGTCT	0.552																																						ENST00000400256.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(16-18)Gca>Aca		collectin sub-family member 12							181.0	121.0	141.0					18																	480749		2203	4300	6503	SO:0001583	missense	81035	0	0					g.chr18:480749C>T	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.16G>A	chr18.hg19:g.480749C>T	ENSP00000383115:p.Ala6Thr	0						p.A6T	NM_130386.2	NP_569057	1	2	3	2.007506	Q5KU26	COL12_HUMAN		2	223	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	1	1	hg19	c.16G>A	CCDS32782.1	1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984474	0.53934	.	.	ENSG00000158270	ENST00000400256	D	0.89196	-2.48	5.77	4.89	0.63831	5.77	4.89	0.63831	.	0.336780	0.30547	N	0.009382	D	0.89550	0.6747	L	0.27053	0.805	0.40126	D	0.976664	D	0.76494	0.999	D	0.68621	0.959	D	0.89636	0.3859	10	0.44086	T	0.13	-8.4186	12.7129	0.57100	0.0:0.8346:0.1654:0.0	.	6	Q5KU26	COL12_HUMAN	T	6	ENSP00000383115:A6T	ENSP00000383115:A6T	A	-	1	0	0	COLEC12	470749	470749	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.657000	0.46724	1.409000	0.46915	0.650000	0.86243	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				67	67		268	262	1		1	0		0	0	65	0		1	0	0	0	0	1	0	67	268
CXXC1	30827	broad.mit.edu	37	18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	301	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGCCATGGTCATCAAAGGC	0.557																																						ENST00000285106.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(901-903)gAc>gTc		CXXC finger protein 1							75.0	80.0	79.0					18																	47811382		2203	4300	6503	SO:0001583	missense	30827	0	0					g.chr18:47811382T>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.902A>T	chr18.hg19:g.47811382T>A	ENSP00000285106:p.Asp301Val	0					CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000587396.1_5'Flank	p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	0	1	1	1.988234	Q9P0U4	CXXC1_HUMAN		7	1616	-			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	1	1	hg19	c.902A>T	CCDS11945.1	1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900308	0.52227	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.28	4.28	0.50868	4.28	4.28	0.50868	.	0.249082	0.37715	N	0.001980	T	0.39462	0.1079	L	0.46157	1.445	0.80722	D	1	P;D;P;P	0.71674	0.808;0.998;0.808;0.808	B;D;B;B	0.63703	0.283;0.917;0.283;0.17	T	0.18650	-1.0330	10	0.56958	D	0.05	-8.5836	11.6576	0.51328	0.0:0.0:0.0:1.0	.	301;301;301;168	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	301	ENSP00000285106:D301V;ENSP00000390475:D301V	ENSP00000285106:D301V	D	-	2	0	0	CXXC1	46065380	46065380	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.789000	0.62446	1.718000	0.51419	0.443000	0.29094	GAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_014593			78	76		291	285	1		1	1		0	0	86	0		1	1	0	37	0	144	0	78	291
MAPK4	5596	broad.mit.edu	37	18	48255600	48255600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	ENST00000400384.2	+	6	2176	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_ENST00000540640.1_Silent_p.R169R|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	380					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGTACAGCGCGACCCGCGCG	0.672																																						ENST00000400384.2	1.000000	0.730000	1	8.700000e-01	0.990000	0.956049	0.990000	1.000000																										0				8						c.(1138-1140)cgC>cgT		mitogen-activated protein kinase 4							31.0	35.0	34.0					18																	48255600		2031	4119	6150	SO:0001819	synonymous_variant	5596	1	120134	29				g.chr18:48255600C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1140C>T	chr18.hg19:g.48255600C>T		0					MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.R169R	p.R380R	NM_002747.3	NP_002738.2	0	1	1	1.988234	P31152	MK04_HUMAN		6	2176	+		Colorectal(6;0.0297)	A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	1	1	hg19	c.1140C>T	CCDS42437.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_002747			33	33		338	336	0		1			0	0	50	0		1	0	0	0	0	0	0	33	338
ME2	4200	broad.mit.edu	37	18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGAGAAAGTACCGAGAAAAA	0.333																																						ENST00000321341.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(805-807)tAc>tGc		malic enzyme 2, NAD(+)-dependent, mitochondrial							65.0	64.0	64.0					18																	48446897		2203	4300	6503	SO:0001583	missense	4200	0	0					g.chr18:48446897A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.806A>G	chr18.hg19:g.48446897A>G	ENSP00000321070:p.Tyr269Cys	0					ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	p.Y269C	NM_002396.4	NP_002387.1	0	1	1	1.988234	P23368	MAOM_HUMAN		8	1078	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	1	1	hg19	c.806A>G	CCDS11948.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243374	0.79912	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.56941	0.43;0.43	5.75	5.75	0.90469	5.75	5.75	0.90469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	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	D	0.89158	0.3528	10	0.87932	D	0	-16.0466	15.046	0.71827	1.0:0.0:0.0:0.0	.	269;269	Q9BWL6;P23368	.;MAOM_HUMAN	C	269	ENSP00000321070:Y269C;ENSP00000372384:Y269C	ENSP00000321070:Y269C	Y	+	2	0	0	ME2	46700895	46700895	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.315000	0.96313	2.202000	0.70862	0.528000	0.53228	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_002396			52	51		158	156	1		1	1		0	0	45	0		1	1	0	26	0	108	0	52	158
ME2	4200	broad.mit.edu	37	18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	283					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CTTACAGGGACAGCTGCAGTA	0.348																																						ENST00000321341.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(847-849)aCa>aTa		malic enzyme 2, NAD(+)-dependent, mitochondrial							52.0	55.0	54.0					18																	48447034		2203	4297	6500	SO:0001583	missense	4200	0	0					g.chr18:48447034C>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.848C>T	chr18.hg19:g.48447034C>T	ENSP00000321070:p.Thr283Ile	0					ME2_ENST00000382927.3_Missense_Mutation_p.T283I	p.T283I	NM_002396.4	NP_002387.1	0	1	1	1.988234	P23368	MAOM_HUMAN		9	1120	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	1	1	hg19	c.848C>T	CCDS11948.1	1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809554	0.70797	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89641	0.3862	10	0.87932	D	0	-26.8303	18.6849	0.91559	0.0:1.0:0.0:0.0	.	283;283	Q9BWL6;P23368	.;MAOM_HUMAN	I	283	ENSP00000321070:T283I;ENSP00000372384:T283I	ENSP00000321070:T283I	T	+	2	0	0	ME2	46701032	46701032	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	7.791000	0.85805	2.719000	0.93026	0.637000	0.83480	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_002396			71	71		263	258	0		1	1		0	0	77	0		1	1	0	35	0	106	0	71	263
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	496	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R496H(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468																																						ENST00000342988.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.R496H(2)|p.?(2)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(1)	454						c.(1486-1488)cGt>cAt		SMAD family member 4							122.0	105.0	111.0					18																	48604665		2203	4300	6503	SO:0001583	missense	4089	0	0					g.chr18:48604665G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1487G>A	chr18.hg19:g.48604665G>A	ENSP00000341551:p.Arg496His	0					SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	p.R496H	NM_005359.5	NP_005350.1	0	1	1	1.988234	Q13485	SMAD4_HUMAN		12	2025	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Missense_Mutation	SNP	ENST00000342988.3	1	1	hg19	c.1487G>A	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	0	SMAD4	46858663	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		2	2	6	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_005359			92	91		298	291	1		1	1	1	0	1	65	1179		1	1	1	21	237	108	976	92	298
DCC	1630	broad.mit.edu	37	18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A	rs558026226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	63	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)			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)		CGACTGCTCCGCGGAGTCCGA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.001					ENST00000442544.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				148						c.(187-189)Gcg>Acg		DCC netrin 1 receptor							72.0	70.0	71.0					18																	50278519		2203	4300	6503	SO:0001583	missense	1630	1	121412	29				g.chr18:50278519G>A	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.187G>A	chr18.hg19:g.50278519G>A	ENSP00000389140:p.Ala63Thr	0					DCC_ENST00000412726.1_5'Flank	p.A63T	NM_005215.3	NP_005206.2	0	1	1	1.988234	P43146	DCC_HUMAN		2	803	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Missense_Mutation	SNP	ENST00000442544.2	1	1	hg19	c.187G>A	CCDS11952.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851659	0.71719	.	.	ENSG00000187323	ENST00000442544	T	0.15603	2.41	5.66	5.66	0.87406	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.45760	-0.9239	10	0.72032	D	0.01	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	63	P43146	DCC_HUMAN	T	63	ENSP00000389140:A63T	ENSP00000389140:A63T	A	+	1	0	0	DCC	48532517	48532517	1.000000	0.71417	0.850000	0.33497	0.146000	0.21551	4.507000	0.60434	2.676000	0.91093	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_005215			42	43		210	206	1		1	0		0	0	36	0		1	7.736365e-02	0	0	0	3	0	42	210
DCC	1630	broad.mit.edu	37	18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000442544.2	+	7	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	415	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)			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)		CAGTGCACAGCTCATTGTCCC	0.428																																						ENST00000442544.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(1243-1245)Ctc>Atc		DCC netrin 1 receptor							147.0	131.0	137.0					18																	50592518		2203	4300	6503	SO:0001583	missense	1630	0	0					g.chr18:50592518C>A	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.1243C>A	chr18.hg19:g.50592518C>A	ENSP00000389140:p.Leu415Ile	0					DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.L70I	p.L415I	NM_005215.3	NP_005206.2	0	1	1	1.988234	P43146	DCC_HUMAN		7	1859	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Missense_Mutation	SNP	ENST00000442544.2	1	1	hg19	c.1243C>A	CCDS11952.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238434	0.39598	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.89746	-2.56;-2.56	5.01	4.12	0.48240	5.01	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.92835	0.7721	M	0.66378	2.025	0.44562	D	0.997522	P;P;P	0.46220	0.584;0.874;0.844	P;P;D	0.68621	0.744;0.833;0.959	D	0.92639	0.6123	10	0.59425	D	0.04	.	12.1051	0.53807	0.0:0.9141:0.0:0.0859	.	263;263;415	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	415;348;263	ENSP00000389140:L415I;ENSP00000397322:L263I	ENSP00000304146:L348I	L	+	1	0	0	DCC	48846516	48846516	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.402000	0.59722	2.497000	0.84241	0.650000	0.86243	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_005215			91	89		311	307	0		1	0		0	0	76	0		1	0	0	0	0	1	0	91	311
MBD2	8932	broad.mit.edu	37	18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	380					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CAATTTCTTGCGTACTTGCTG	0.403																																						ENST00000256429.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				8						c.(1138-1140)cGc>cAc		methyl-CpG binding domain protein 2							167.0	134.0	145.0					18																	51686244		2203	4300	6503	SO:0001583	missense	8932	0	0					g.chr18:51686244C>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1139G>A	chr18.hg19:g.51686244C>T	ENSP00000256429:p.Arg380His	0					MBD2_ENST00000579025.1_5'UTR	p.R380H	NM_003927.4	NP_003918.1	0	1	1	1.988234	Q9UBB5	MBD2_HUMAN		6	1367	-			O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	1	1	hg19	c.1139G>A	CCDS11953.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483729	0.84854	.	.	ENSG00000134046	ENST00000256429	D	0.99567	-6.18	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98021	1.0371	10	0.87932	D	0	-11.7965	18.7698	0.91887	0.0:1.0:0.0:0.0	.	380	Q9UBB5	MBD2_HUMAN	H	380	ENSP00000256429:R380H	ENSP00000256429:R380H	R	-	2	0	0	MBD2	49940242	49940242	1.000000	0.71417	0.188000	0.23233	0.464000	0.32679	7.456000	0.80751	2.724000	0.93272	0.561000	0.74099	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-19.998170	1	0.170000	NM_003927			53	53		344	333	1		1	1		0	0	70	0		1	1	0	21	0	470	0	53	344
MBD2	8932	broad.mit.edu	37	18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	375					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TGCTGTACTCGCTCTTCCTGT	0.398																																						ENST00000256429.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999726	0.990000	1.000000																										0				8						c.(1123-1125)Cga>Tga		methyl-CpG binding domain protein 2							125.0	101.0	109.0					18																	51686260		2203	4300	6503	SO:0001587	stop_gained	8932	0	0					g.chr18:51686260G>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1123C>T	chr18.hg19:g.51686260G>A	ENSP00000256429:p.Arg375*	0					MBD2_ENST00000579025.1_5'UTR	p.R375*	NM_003927.4	NP_003918.1	0	1	1	1.988234	Q9UBB5	MBD2_HUMAN		6	1351	-			O95242|Q9UIS8	Nonsense_Mutation	SNP	ENST00000256429.3	0	1	hg19	c.1123C>T	CCDS11953.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.661500	0.98419	.	.	ENSG00000134046	ENST00000256429	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.065090	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4375	13.7042	0.62627	0.0:0.0:0.8457:0.1543	.	.	.	.	X	375	.	ENSP00000256429:R375X	R	-	1	2	2	MBD2	49940258	49940258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.862000	0.48388	2.724000	0.93272	0.561000	0.74099	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-3.222241	1	0.170000	NM_003927			39	39		262	254	0		1	1		0	0	59	0		1	1	0	30	0	486	0	39	262
MBD2	8932	broad.mit.edu	37	18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	276					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		GACGTGGCTGTTCATTCATTC	0.333																																						ENST00000256429.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(826-828)gaA>gaC		methyl-CpG binding domain protein 2							238.0	222.0	227.0					18																	51715256		2203	4300	6503	SO:0001583	missense	8932	0	0					g.chr18:51715256T>G	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.828A>C	chr18.hg19:g.51715256T>G	ENSP00000256429:p.Glu276Asp	0						p.E276D	NM_003927.4	NP_003918.1	0	1	1	1.988234	Q9UBB5	MBD2_HUMAN		3	1056	-			O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	1	1	hg19	c.828A>C	CCDS11953.1	1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089478	0.20390	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.39	1.64	0.23874	5.39	1.64	0.23874	.	0.219657	0.37715	N	0.001979	D	0.92815	0.7715	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.84547	0.0642	10	0.25106	T	0.35	-8.3278	8.2329	0.31608	0.0:0.2511:0.0:0.7488	.	276	Q9UBB5	MBD2_HUMAN	D	276	ENSP00000256429:E276D	ENSP00000256429:E276D	E	-	3	2	2	MBD2	49969254	49969254	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	0.065000	0.14466	0.037000	0.15575	0.460000	0.39030	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	1		2	2	2	0		0	0	172		172	169	1	2.060000	-20.000000	1	0.170000	NM_003927			138	136		669	659	1		1	1		0	0	172	0		1	1	0	31	0	512	0	138	669
MBD2	8932	broad.mit.edu	37	18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000256429.3	-	1	746	c.518G>A	c.(517-519)gGc>gAc	p.G173D	SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	173	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ATCGCTCTTGCCAGCACTTAG	0.667																																						ENST00000256429.3	1.000000	0.560000	1	7.500000e-01	0.980000	0.906780	0.980000	1.000000																										0				8						c.(517-519)gGc>gAc		methyl-CpG binding domain protein 2							31.0	31.0	31.0					18																	51750412		2203	4300	6503	SO:0001583	missense	8932	0	0					g.chr18:51750412C>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.518G>A	chr18.hg19:g.51750412C>T	ENSP00000256429:p.Gly173Asp	0					SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	p.G173D	NM_003927.4	NP_003918.1	0	1	1	1.988234	Q9UBB5	MBD2_HUMAN		1	746	-			O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	1	1	hg19	c.518G>A	CCDS11953.1	1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.99470	-5.96;-5.96	4.57	3.68	0.42216	4.57	3.68	0.42216	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.074158	0.52532	N	0.000065	D	0.99444	0.9803	M	0.85041	2.73	0.52099	D	0.999944	D;D	0.89917	0.988;1.0	P;D	0.97110	0.85;1.0	D	0.98264	1.0500	10	0.87932	D	0	-12.6095	11.9532	0.52966	0.0:0.9096:0.0:0.0904	.	173;173	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	D	173	ENSP00000256429:G173D;ENSP00000381435:G173D	ENSP00000256429:G173D	G	-	2	0	0	MBD2	50004410	50004410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.193000	0.77780	2.074000	0.62210	0.491000	0.48974	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-18.236070	1	0.170000	NM_003927			13	12		141	136	0		1	1		0	0	37	0		9.994914e-01	9.999883e-01	0	10	0	235	0	13	141
POLI	11201	broad.mit.edu	37	18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579534.1	+	5	768	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_ENST00000406285.3_Intron|POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	209	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.R184W(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)		AGCAGAGATGCGGGAAGCCAT	0.413								DNA polymerases (catalytic subunits)																														ENST00000579534.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R184W(1)	large_intestine(1)	26						c.(625-627)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							175.0	173.0	174.0					18																	51807102		2203	4300	6503	SO:0001583	missense	11201	3	121412	37				g.chr18:51807102C>T		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.625C>T	chr18.hg19:g.51807102C>T	ENSP00000462664:p.Arg209Trp	0					POLI_ENST00000406285.3_Intron|POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	p.R209W	NM_007195.2	NP_009126.2	0	1	1	1.988234	Q9UNA4	POLI_HUMAN		5	768	+			Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	1	1	hg19	c.625C>T	CCDS11954.2	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256370	0.39896	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	3.66	0.41972	5.72	3.66	0.41972	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89414	0.3705	9	0.87932	D	0	-12.2842	11.161	0.48516	0.4562:0.5438:0.0:0.0	.	209	Q9UNA4	POLI_HUMAN	W	209	.	ENSP00000217800:R209W	R	+	1	2	2	POLI	50061100	50061100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.595000	0.54016	1.542000	0.49330	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	1	0	1		2	2	2	0		0	0	172		172	171	1	2.060000	-20.000000	1	0.170000	NM_007195			144	144		652	637	1		1	1		0	0	172	0		1	9.991771e-01	0	5	0	43	0	144	652
STARD6	147323	broad.mit.edu	37	18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000581310.1	-	9	903	c.530G>A	c.(529-531)gGa>gAa	p.G177E	STARD6_ENST00000580990.2_Missense_Mutation_p.G53E|STARD6_ENST00000307844.3_Missense_Mutation_p.G177E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	177	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338																																						ENST00000581310.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(529-531)gGa>gAa		StAR-related lipid transfer (START) domain containing 6							135.0	132.0	133.0					18																	51851195		2203	4300	6503	SO:0001583	missense	147323	0	0					g.chr18:51851195C>T	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.530G>A	chr18.hg19:g.51851195C>T	ENSP00000462349:p.Gly177Glu	0					STARD6_ENST00000580990.2_Missense_Mutation_p.G53E|STARD6_ENST00000307844.3_Missense_Mutation_p.G177E	p.G177E			0	1	1	1.988234	P59095	STAR6_HUMAN		9	903	-				Missense_Mutation	SNP	ENST00000581310.1	1	1	hg19	c.530G>A	CCDS11955.1	1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153918	0.38021	.	.	ENSG00000174448	ENST00000307844	T	0.81415	-1.49	5.53	5.53	0.82687	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000003	D	0.90041	0.6890	M	0.83118	2.625	0.45747	D	0.998645	D	0.89917	1.0	D	0.97110	1.0	D	0.91181	0.4976	10	0.87932	D	0	.	14.9523	0.71083	0.0:1.0:0.0:0.0	.	177	P59095	STAR6_HUMAN	E	177	ENSP00000310814:G177E	ENSP00000310814:G177E	G	-	2	0	0	STARD6	50105193	50105193	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.665000	0.46791	2.586000	0.87340	0.411000	0.27672	GGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	0	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_139171			56	55		259	257	1		1	1		0	0	39	0		1	1.516607e-01	0	2	0	2	0	56	259
STARD6	147323	broad.mit.edu	37	18	51851233	51851233	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000581310.1	-	9	865	c.492T>C	c.(490-492)taT>taC	p.Y164Y	STARD6_ENST00000580990.2_Silent_p.Y40Y|STARD6_ENST00000307844.3_Silent_p.Y164Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	164	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333																																						ENST00000581310.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(490-492)taT>taC		StAR-related lipid transfer (START) domain containing 6							93.0	91.0	92.0					18																	51851233		2201	4300	6501	SO:0001819	synonymous_variant	147323	0	0					g.chr18:51851233A>G	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.492T>C	chr18.hg19:g.51851233A>G		0					STARD6_ENST00000580990.2_Silent_p.Y40Y|STARD6_ENST00000307844.3_Silent_p.Y164Y	p.Y164Y			0	1	1	1.988234	P59095	STAR6_HUMAN		9	865	-				Silent	SNP	ENST00000581310.1	1	1	hg19	c.492T>C	CCDS11955.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_139171			47	46		230	225	1		1	1		0	0	39	0		1	2.077518e-01	0	4	0	1	0	47	230
C18orf54	162681	broad.mit.edu	37	18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P|C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	239						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343																																						ENST00000300091.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(715-717)Tca>Cca		chromosome 18 open reading frame 54							82.0	81.0	82.0					18																	51889266		2203	4300	6503	SO:0001583	missense	162681	0	0					g.chr18:51889266T>C	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.715T>C	chr18.hg19:g.51889266T>C	ENSP00000300091:p.Ser239Pro	0					C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P|C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P	p.S239P	NM_173529.4	NP_775800.3	0	1	1	1.988234	Q8IYD9	LAS2_HUMAN		4	1047	+			I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	1	1	hg19	c.715T>C	CCDS11956.1	1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339833	0.24339	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.48522	0.81;0.81	5.12	3.91	0.45181	5.12	3.91	0.45181	.	0.077624	0.53938	D	0.000060	T	0.59362	0.2188	L	0.57536	1.79	0.38418	D	0.946099	P;D	0.61080	0.717;0.989	B;D	0.63957	0.352;0.92	T	0.61888	-0.6970	10	0.54805	T	0.06	-1.4013	9.9255	0.41489	0.1578:0.0:0.0:0.8422	.	400;239	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	239;400	ENSP00000300091:S239P;ENSP00000372368:S400P	ENSP00000300091:S239P	S	+	1	0	0	C18orf54	50143264	50143264	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.740000	0.55082	0.747000	0.32809	0.402000	0.26972	TCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_173529			48	48		228	223	1		1	0		0	0	67	0		1	5.448709e-01	0	0	0	10	0	48	228
C18orf54	162681	broad.mit.edu	37	18	51898889	51898889	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000382911.4_Silent_p.Q460Q|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	299						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358																																						ENST00000300091.5	0.730000	0.320000	6.300000e-01	4.000000e-01	0.500000	0.521629	0.500000	0.510000																										0				15						c.(895-897)caA>caG		chromosome 18 open reading frame 54							120.0	112.0	115.0					18																	51898889		2203	4300	6503	SO:0001819	synonymous_variant	162681	0	0					g.chr18:51898889A>G	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.897A>G	chr18.hg19:g.51898889A>G		0					C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000382911.4_Silent_p.Q460Q	p.Q299Q	NM_173529.4	NP_775800.3	0	1	1	1.988234	Q8IYD9	LAS2_HUMAN		6	1229	+			I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	ENST00000300091.5	1	1	hg19	c.897A>G	CCDS11956.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-19.968190	1	0.170000	NM_173529			21	20		466	460	0		1	0		0	0	118	0		9.999973e-01	6.053151e-02	0	0	0	9	0	21	466
TCF4	6925	broad.mit.edu	37	18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000356073.4	-	16	2002	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	464					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGAATGGCTGCCTCTCAG	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356073.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1390-1392)aGc>aTc		transcription factor 4							108.0	111.0	110.0					18																	52901874		2203	4300	6503	SO:0001583	missense	6925	0	0					g.chr18:52901874C>A	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.1391G>T	chr18.hg19:g.52901874C>A	ENSP00000348374:p.Ser464Ile	0		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I	p.S464I	NM_003199.2	NP_003190.1	0	1	1	1.988234	P15884	ITF2_HUMAN		16	2002	-			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	1	1	hg19	c.1391G>T	CCDS11960.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177483	0.78564	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.044173	0.85682	D	0.000000	T	0.70902	0.3277	L	0.55213	1.73	0.53688	D	0.999972	P;D;P;D;B;P;P;P;P	0.61080	0.69;0.98;0.887;0.989;0.072;0.713;0.713;0.936;0.744	P;P;P;P;B;B;P;B;B	0.61201	0.536;0.844;0.474;0.885;0.015;0.434;0.467;0.367;0.272	T	0.72340	-0.4323	10	0.72032	D	0.01	-8.8053	18.543	0.91037	0.0:1.0:0.0:0.0	.	440;464;304;566;464;422;393;304;461	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	464;304;464;422;440;440;393;334;566	ENSP00000346440:S464I;ENSP00000409447:S304I;ENSP00000348374:S464I;ENSP00000439656:S422I;ENSP00000445202:S440I;ENSP00000440731:S440I;ENSP00000441562:S393I;ENSP00000439827:S334I;ENSP00000381382:S566I	ENSP00000346440:S464I	S	-	2	0	0	TCF4	51052872	51052872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	2.758000	0.94735	0.563000	0.77884	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_003199			82	80		454	442	1		1	0		0	0	120	0		1	9.999996e-01	0	0	0	117	0	82	454
TCF4	6925	broad.mit.edu	37	18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000356073.4	-	7	1017	c.406C>A	c.(406-408)Cca>Aca	p.P136T	TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	136					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTCCTGGGTTGCCCATA	0.453																																						ENST00000356073.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(406-408)Cca>Aca		transcription factor 4							109.0	104.0	106.0					18																	53018198		2203	4300	6503	SO:0001583	missense	6925	0	0					g.chr18:53018198G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.406C>A	chr18.hg19:g.53018198G>T	ENSP00000348374:p.Pro136Thr	0					TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T	p.P136T	NM_003199.2	NP_003190.1	0	1	1	1.988234	P15884	ITF2_HUMAN		7	1017	-			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	1	1	hg19	c.406C>A	CCDS11960.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271410	0.40194	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.151693	0.46145	D	0.000317	T	0.56337	0.1978	L	0.39245	1.2	0.32176	N	0.58106	B;B;B;B;B;B;B	0.25850	0.058;0.0;0.058;0.001;0.019;0.136;0.136	B;B;B;B;B;B;B	0.30782	0.076;0.002;0.102;0.0;0.015;0.076;0.12	T	0.65541	-0.6143	10	0.72032	D	0.01	-26.7506	13.6319	0.62200	0.0:0.0:0.8448:0.1552	.	112;136;112;238;136;94;65	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	T	136;136;94;112;112;65;6;238	ENSP00000346440:P136T;ENSP00000348374:P136T;ENSP00000439656:P94T;ENSP00000445202:P112T;ENSP00000440731:P112T;ENSP00000441562:P65T;ENSP00000439827:P6T;ENSP00000381382:P238T	ENSP00000346440:P136T	P	-	1	0	0	TCF4	51169196	51169196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.781000	0.95711	0.655000	0.94253	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-3.236942	1	0.170000	NM_003199			75	74		378	370	1		1	0		0	0	102	0		1	9.995978e-01	0	0	0	60	0	75	378
EPB41L3	23136	broad.mit.edu	37	18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	687	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			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						ACACCTCTTCCTCTGAACTGT	0.567																																						ENST00000341928.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(2059-2061)gaG>gaT		erythrocyte membrane protein band 4.1-like 3							73.0	74.0	74.0					18																	5415823		2203	4300	6503	SO:0001583	missense	23136	0	0					g.chr18:5415823C>A	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.2061G>T	chr18.hg19:g.5415823C>A	ENSP00000343158:p.Glu687Asp	0					EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000400111.3_Intron	p.E687D	NM_012307.2	NP_036439.2	0	1	1	1.988234	Q9Y2J2	E41L3_HUMAN		13	2401	-			B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	1	1	hg19	c.2061G>T	CCDS11838.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174364	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.356014	0.28889	N	0.013812	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.66056	-0.6018	10	0.36615	T	0.2	.	14.5656	0.68173	0.1461:0.8539:0.0:0.0	.	687	Q9Y2J2	E41L3_HUMAN	D	687	ENSP00000343158:E687D;ENSP00000341138:E687D	ENSP00000343158:E687D	E	-	3	2	2	EPB41L3	5405823	5405823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.704000	0.61831	2.655000	0.90218	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-4.524171	1	0.170000	NM_012307			70	68		219	212	1		1			0	0	68	0		1	0	0	0	0	0	0	70	219
TCF4	6925	broad.mit.edu	37	18	53303063	53303063	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53303063A>C	ENST00000398339.1	-	1	122	c.66T>G	c.(64-66)atT>atG	p.I22M		NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4	0	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AATTTGTCAAAATGATGAAGA	0.418																																						ENST00000398339.1	1.000000	0.560000	1	9.400000e-01	0.990000	0.958309	0.990000	1.000000																										0				41						c.(64-66)atT>atG		transcription factor 4							10.0	8.0	8.0					18																	53303063		866	1969	2835	SO:0001583	missense	6925	0	0					g.chr18:53303063A>C	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	ENST00000398339.1:c.66T>G	chr18.hg19:g.53303063A>C	ENSP00000381382:p.Ile22Met	0						p.I22M	NM_001243226.1	NP_001230155.1	0	1	1	1.988234	P15884	ITF2_HUMAN		1	122	-			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	ENST00000398339.1	0	1	hg19	c.66T>G	CCDS58631.1	1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775199	0.16051	.	.	ENSG00000196628	ENST00000398339	T	0.33438	1.41	2.13	-2.82	0.05787	2.13	-2.82	0.05787	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	8	0.87932	D	0	.	0.3337	0.00323	0.3168:0.2048:0.2773:0.2011	.	22	E9PH57	.	M	22	ENSP00000381382:I22M	ENSP00000381382:I22M	I	-	3	3	3	TCF4	51454061	51454061	0.935000	0.31712	0.000000	0.03702	0.116000	0.19942	0.087000	0.14958	-0.617000	0.05664	-0.672000	0.03802	ATT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TCF4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256013.1	0	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-10.603700	1	0.170000	NM_003199			4	4		22	21	0		1			0	0	8	0		8.863247e-01	0	0	0	0	0	0	4	22
EPB41L3	23136	broad.mit.edu	37	18	5428405	5428405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5428405G>A	ENST00000341928.2	-	9	1312	c.972C>T	c.(970-972)cgC>cgT	p.R324R	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000342933.3_Silent_p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	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)			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						GCAGCCGGTCGCGATATATCA	0.413																																						ENST00000341928.2	0.530000	0.240000	4.600000e-01	3.000000e-01	0.370000	0.385525	0.370000	0.370000																										0				105						c.(970-972)cgC>cgT		erythrocyte membrane protein band 4.1-like 3							137.0	142.0	141.0					18																	5428405		2203	4300	6503	SO:0001819	synonymous_variant	23136	1	121412	34				g.chr18:5428405G>A	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.972C>T	chr18.hg19:g.5428405G>A		0					EPB41L3_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R	p.R324R	NM_012307.2	NP_036439.2	0	1	1	1.988234	Q9Y2J2	E41L3_HUMAN		9	1312	-			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	1	1	hg19	c.972C>T	CCDS11838.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-3.060706	1	0.170000	NM_012307			25	25		758	745	0		1	0		0	0	145	0		9.999998e-01	6.729609e-01	0	0	0	71	0	25	758
TXNL1	9352	broad.mit.edu	37	18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	202	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348																																						ENST00000217515.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				4						c.(604-606)cGa>cAa		thioredoxin-like 1							103.0	97.0	99.0					18																	54281785		2203	4300	6503	SO:0001583	missense	9352	0	0					g.chr18:54281785C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.605G>A	chr18.hg19:g.54281785C>T	ENSP00000217515:p.Arg202Gln	0					TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	p.R202Q	NM_004786.2	NP_004777.1	0	1	1	1.988234	O43396	TXNL1_HUMAN		6	809	-				Missense_Mutation	SNP	ENST00000217515.6	1	1	hg19	c.605G>A	CCDS11961.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670429	0.67814	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.16897	2.31	5.61	5.61	0.85477	5.61	5.61	0.85477	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000003	T	0.21801	0.0525	L	0.51853	1.615	0.80722	D	1	P;P	0.49307	0.575;0.922	B;B	0.43916	0.162;0.436	T	0.01725	-1.1287	10	0.20046	T	0.44	.	19.2387	0.93873	0.0:1.0:0.0:0.0	.	202;202	B2R960;O43396	.;TXNL1_HUMAN	Q	202;79	ENSP00000217515:R202Q	ENSP00000217515:R202Q	R	-	2	0	0	TXNL1	52432783	52432783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.636000	0.67848	2.621000	0.88768	0.650000	0.86243	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-19.267500	1	0.170000				36	36		191	190	1		1	1		0	0	39	0		1	1	0	151	0	393	0	36	191
WDR7	23335	broad.mit.edu	37	18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	537					hematopoietic progenitor cell differentiation (GO:0002244)					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)		TGCTCTGTAGCCAGTGACCAC	0.363																																						ENST00000254442.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1609-1611)gCc>gTc		WD repeat domain 7							132.0	121.0	125.0					18																	54385226		2203	4300	6503	SO:0001583	missense	23335	0	0					g.chr18:54385226C>T	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.1610C>T	chr18.hg19:g.54385226C>T	ENSP00000254442:p.Ala537Val	0					WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	p.A537V	NM_015285.2	NP_056100.2	0	1	1	1.988234	Q9Y4E6	WDR7_HUMAN		13	1821	+			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	1	1	hg19	c.1610C>T	CCDS11962.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806809	0.90623	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.37	5.59	5.59	0.84812	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.76002	2.32	0.80722	D	1	P;P	0.44946	0.846;0.813	B;B	0.43783	0.431;0.357	T	0.75508	-0.3293	10	0.72032	D	0.01	.	14.7507	0.69522	0.0:0.8555:0.1445:0.0	.	537;537	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	537	ENSP00000254442:A537V;ENSP00000350187:A537V	ENSP00000254442:A537V	A	+	2	0	0	WDR7	52536224	52536224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.632000	0.89209	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				107	104		487	476	1		1	1		0	0	103	0		1	9.933012e-01	0	8	0	29	0	107	487
WDR7	23335	broad.mit.edu	37	18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710					hematopoietic progenitor cell differentiation (GO:0002244)					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)		GCCTCTAGGCCGAATACTGCT	0.433																																						ENST00000254442.3	0.600000	0.240000	5.000000e-01	3.100000e-01	0.400000	0.415211	0.400000	0.390000																										0				78						c.(2128-2130)cCg>cTg		WD repeat domain 7							76.0	79.0	78.0					18																	54423953		2203	4300	6503	SO:0001583	missense	23335	2	121412	32				g.chr18:54423953C>T	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.2129C>T	chr18.hg19:g.54423953C>T	ENSP00000254442:p.Pro710Leu	0					WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	p.P710L	NM_015285.2	NP_056100.2	0	1	1	1.988234	Q9Y4E6	WDR7_HUMAN		15	2340	+			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	1	1	hg19	c.2129C>T	CCDS11962.1	0	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031908	0.19590	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.2	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.03608	-0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.861;0.997	T	0.69815	-0.5043	10	0.28530	T	0.3	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	710;710	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	710	ENSP00000254442:P710L;ENSP00000350187:P710L	ENSP00000254442:P710L	P	+	2	0	0	WDR7	52574951	52574951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.826000	0.97356	0.655000	0.94253	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	0	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.784089	1	0.170000				18	18		511	500	0		1	0		0	0	96	0		9.999787e-01	3.170900e-01	0	0	0	32	0	18	511
WDR7	23335	broad.mit.edu	37	18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1121					hematopoietic progenitor cell differentiation (GO:0002244)					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)		CGAGGAAAGACGGAAGCAAGC	0.378																																						ENST00000254442.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				78						c.(3361-3363)Cgg>Tgg		WD repeat domain 7							92.0	84.0	87.0					18																	54547231		2203	4300	6503	SO:0001583	missense	23335	2	121412	36				g.chr18:54547231C>T	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.3361C>T	chr18.hg19:g.54547231C>T	ENSP00000254442:p.Arg1121Trp	0					WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	p.R1121W	NM_015285.2	NP_056100.2	0	1	1	1.988234	Q9Y4E6	WDR7_HUMAN		21	3572	+			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	1	1	hg19	c.3361C>T	CCDS11962.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742449	0.69418	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73575	-0.76;2.16	5.37	3.47	0.39725	5.37	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.83560	0.0106	10	0.87932	D	0	.	13.5355	0.61644	0.5367:0.4633:0.0:0.0	.	1088;1121	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1121;1088;446;1088	ENSP00000254442:R1121W;ENSP00000350187:R1088W	ENSP00000254442:R1121W	R	+	1	2	2	WDR7	52698229	52698229	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	1.987000	0.40687	0.655000	0.30866	0.655000	0.94253	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-19.999990	1	0.170000				52	50		282	278	1		1	1		0	0	63	0		1	9.938204e-01	0	5	0	40	0	52	282
ONECUT2	9480	broad.mit.edu	37	18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T	rs375937685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	141					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTCCGCCTGGCATGGGCATG	0.657																																						ENST00000491143.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999764	0.990000	1.000000																										0				15						c.(421-423)gGc>gTc		one cut homeobox 2		G	VAL/GLY	0,4406		0,0,2203	47.0	52.0	50.0		422	2.3	1.0	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	ONECUT2	NM_004852.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	141/505	55103370	1,13005	2203	4300	6503	SO:0001583	missense	9480	1	121348	28				g.chr18:55103370G>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.422G>T	chr18.hg19:g.55103370G>T	ENSP00000419185:p.Gly141Val	0					AC090340.1_ENST00000581316.1_RNA	p.G141V	NM_004852.2	NP_004843.2	0	1	1	1.988234	O95948	ONEC2_HUMAN		1	454	+		Colorectal(73;0.234)		Missense_Mutation	SNP	ENST00000491143.2	1	1	hg19	c.422G>T	CCDS42440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265483	0.59431	0.0	1.16E-4	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	2.34	2.34	0.29019	.	0.000000	0.48286	U	0.000194	T	0.75568	0.3867	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78107	-0.2333	9	0.72032	D	0.01	.	11.3876	0.49796	0.0:0.0:1.0:0.0	.	141	O95948	ONEC2_HUMAN	V	122;141	.	ENSP00000262095:G141V	G	+	2	0	0	ONECUT2	53254368	53254368	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.680000	0.91225	1.133000	0.42147	0.305000	0.20034	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-20.000000	1	0.170000				26	26		148	146	1		1	1		0	0	21	0		1	9.988758e-01	0	32	0	32	0	26	148
ATP8B1	5205	broad.mit.edu	37	18	55315895	55315895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	ENST00000283684.4	-	27	3580	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1194					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)			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)				CACCTGCTGCCGTCGCTGCCA	0.652																																						ENST00000283684.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				53						c.(3580-3582)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							16.0	17.0	16.0					18																	55315895		2177	4251	6428	SO:0001583	missense	5205	0	0					g.chr18:55315895C>T	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.3581G>A	chr18.hg19:g.55315895C>T	ENSP00000283684:p.Arg1194Gln	0					RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R1194Q	p.R1194Q			0	1	1	1.988234	O43520	AT8B1_HUMAN		27	3580	-		Colorectal(73;0.229)	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	0	1	hg19	c.3581G>A	CCDS11965.1	1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258346	0.59321	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.061324	0.64402	D	0.000004	T	0.42337	0.1198	L	0.58302	1.8	0.58432	D	0.999994	B	0.27498	0.18	B	0.23150	0.044	T	0.26849	-1.0091	10	0.33940	T	0.23	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	1194	O43520	AT8B1_HUMAN	Q	1194	ENSP00000283684:R1194Q;ENSP00000445359:R1194Q	ENSP00000283684:R1194Q	R	-	2	0	0	ATP8B1	53466893	53466893	0.959000	0.32827	0.824000	0.32777	0.497000	0.33675	1.654000	0.37334	2.456000	0.83038	0.561000	0.74099	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_005603			17	17		61	59	0		1	1		0	0	8	0		9.999797e-01	9.999397e-01	0	21	0	46	0	17	61
ATP8B1	5205	broad.mit.edu	37	18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000283684.4	-	9	928	c.929T>C	c.(928-930)gTc>gCc	p.V310A	ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	310					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)			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)				TGCAAAAATGACTAAGCCGTG	0.388																																						ENST00000283684.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(928-930)gTc>gCc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							77.0	76.0	76.0					18																	55362414		2203	4300	6503	SO:0001583	missense	5205	0	0					g.chr18:55362414A>G	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.929T>C	chr18.hg19:g.55362414A>G	ENSP00000283684:p.Val310Ala	0					ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A	p.V310A			0	1	1	1.988234	O43520	AT8B1_HUMAN		9	928	-		Colorectal(73;0.229)	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	1	1	hg19	c.929T>C	CCDS11965.1	1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690660	0.68271	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.95342	-3.68;-3.68	5.34	5.34	0.76211	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121704	0.53938	D	0.000042	D	0.93184	0.7829	L	0.55834	1.745	0.80722	D	1	P	0.40000	0.698	B	0.41174	0.349	D	0.93818	0.7116	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	310	O43520	AT8B1_HUMAN	A	310	ENSP00000283684:V310A;ENSP00000445359:V310A	ENSP00000283684:V310A	V	-	2	0	0	ATP8B1	53513412	53513412	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.100000	0.94213	2.025000	0.59659	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_005603			54	53		221	216	1		1	1		0	0	59	0		1	9.999992e-01	0	27	0	62	0	54	221
ATP8B1	5205	broad.mit.edu	37	18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000283684.4	-	6	601	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	201					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)			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)				TTTTTTCAGACGAATGACGTC	0.398																																						ENST00000283684.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(601-603)cGt>cAt		ATPase, aminophospholipid transporter, class I, type 8B, member 1							65.0	69.0	68.0					18																	55365052		2203	4300	6503	SO:0001583	missense	5205	3	121412	31				g.chr18:55365052C>T	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.602G>A	chr18.hg19:g.55365052C>T	ENSP00000283684:p.Arg201His	0					ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H	p.R201H			0	1	1	1.988234	O43520	AT8B1_HUMAN		6	601	-		Colorectal(73;0.229)	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	1	1	hg19	c.602G>A	CCDS11965.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.267877	0.95399	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90504	-2.68;-2.68	6.04	6.04	0.98038	6.04	6.04	0.98038	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94613	0.7806	10	0.66056	D	0.02	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	201	O43520	AT8B1_HUMAN	H	201	ENSP00000283684:R201H;ENSP00000445359:R201H	ENSP00000283684:R201H	R	-	2	0	0	ATP8B1	53516050	53516050	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	CGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005603			43	42		160	154	1		1	1		0	0	28	0		1	9.999873e-01	0	20	0	48	0	43	160
NEDD4L	23327	broad.mit.edu	37	18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000400345.3	+	11	1152	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	290					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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCGGTCTGGCTCTGCCCCCA	0.552																																						ENST00000400345.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										0				37						c.(868-870)gCt>gTt		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							44.0	46.0	46.0					18																	55998025		1879	4100	5979	SO:0001583	missense	23327	0	0					g.chr18:55998025C>T	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.869C>T	chr18.hg19:g.55998025C>T	ENSP00000383199:p.Ala290Val	0					NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V	p.A290V	NM_001144967.2	NP_001138439.1	0	1	1	1.988234	Q96PU5	NED4L_HUMAN		11	1152	+			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	1	1	hg19	c.869C>T	CCDS45872.1	1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.33654	1.43;1.4;1.42;1.42;1.9;1.92;1.83;1.9;1.9;1.92	5.58	2.31	0.28768	5.58	2.31	0.28768	.	1.280920	0.05285	N	0.520104	T	0.26919	0.0659	N	0.22421	0.69	0.25577	N	0.986832	B;B;B;B;B;B;B	0.18968	0.0;0.002;0.006;0.0;0.0;0.001;0.032	B;B;B;B;B;B;B	0.22152	0.001;0.006;0.009;0.001;0.002;0.002;0.038	T	0.26503	-1.0101	10	0.29301	T	0.29	.	8.0142	0.30372	0.1315:0.7125:0.0:0.1561	.	290;282;282;169;290;290;290	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	290;290;290;290;169;169;282;169;169;169	ENSP00000383199:A290V;ENSP00000372301:A290V;ENSP00000348847:A290V;ENSP00000256830:A290V;ENSP00000256832:A169V;ENSP00000411947:A169V;ENSP00000350569:A282V;ENSP00000393395:A169V;ENSP00000405440:A169V;ENSP00000389406:A169V	ENSP00000256830:A290V	A	+	2	0	0	NEDD4L	54149005	54149005	0.697000	0.27767	0.035000	0.18076	0.251000	0.25915	1.091000	0.30915	0.689000	0.31550	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000				25	22		127	124	1		1	1		0	0	41	0		9.999999e-01	9.970053e-01	0	9	0	41	0	25	127
ALPK2	115701	broad.mit.edu	37	18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1935	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						CACTGTGCTGCGGAAGGCTTT	0.557																																						ENST00000361673.3	1.000000	0.830000	1	9.600000e-01	0.990000	0.982922	0.990000	1.000000																										0				84						c.(5803-5805)cGc>cAc		alpha-kinase 2							151.0	132.0	139.0					18																	56184276		2203	4300	6503	SO:0001583	missense	115701	1	121412	28				g.chr18:56184276C>T	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.5804G>A	chr18.hg19:g.56184276C>T	ENSP00000354991:p.Arg1935His	0						p.R1935H	NM_052947.3	NP_443179.3	0	1	1	1.988234	Q86TB3	ALPK2_HUMAN		9	6017	-			Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	1	1	hg19	c.5804G>A	CCDS11966.2	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873107	0.91664	.	.	ENSG00000198796	ENST00000361673	T	0.15372	2.43	5.75	5.75	0.90469	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.41743	0.1172	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.07271	-1.0781	10	0.59425	D	0.04	-17.7765	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1935	Q86TB3	ALPK2_HUMAN	H	1935	ENSP00000354991:R1935H	ENSP00000354991:R1935H	R	-	2	0	0	ALPK2	54335256	54335256	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.385000	0.79763	2.716000	0.92895	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.221883	1	0.170000	NM_052947			49	48		468	458	1		1	0		0	0	109	0		1	0	0	0	0	1	0	49	468
ALPK2	115701	broad.mit.edu	37	18	56204977	56204977	+	Silent	SNP	C	C	T	rs3809971	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56204977C>T	ENST00000361673.3	-	5	2655	c.2442G>A	c.(2440-2442)acG>acA	p.T814T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	814						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						TATCAAAACACGTTCCTTGGT	0.458													T|||	2024	0.404153	0.4312	0.4294	5008	,	,		22574	0.2361		0.5726	False		,,,				2504	0.3497					ENST00000361673.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(2440-2442)acG>acA		alpha-kinase 2		T		1983,2423	618.3+/-393.1	445,1093,665	121.0	112.0	115.0		2442	3.2	0.0	18	dbSNP_107	115	4589,4011	555.6+/-386.7	1236,2117,947	no	coding-synonymous	ALPK2	NM_052947.3		1681,3210,1612	TT,TC,CC		46.6395,45.0068,49.4695		814/2171	56204977	6572,6434	2203	4300	6503	SO:0001819	synonymous_variant	115701	56954	121408	80				g.chr18:56204977C>T	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.2442G>A	chr18.hg19:g.56204977C>T		0					RP11-1151B14.4_ENST00000591360.1_RNA	p.T814T	NM_052947.3	NP_443179.3	0	1	1	1.988234	Q86TB3	ALPK2_HUMAN		5	2655	-			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	1	0	hg19	c.2442G>A	CCDS11966.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-0.432732	0	0.170000	NM_052947			89	88		360	354	1		1	0		0	0	67	0		1	4.017621e-02	0	0	0	2	0	89	360
ALPK2	115701	broad.mit.edu	37	18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	494						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						CTTCATCTCTGTCTCTCTTAC	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1480-1482)aCa>aTa		alpha-kinase 2							153.0	154.0	154.0					18																	56246527		2203	4300	6503	SO:0001583	missense	115701	0	0					g.chr18:56246527G>A	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.1481C>T	chr18.hg19:g.56246527G>A	ENSP00000354991:p.Thr494Ile	0		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'Flank	p.T494I	NM_052947.3	NP_443179.3	0	1	1	1.988234	Q86TB3	ALPK2_HUMAN		4	1694	-			Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	1	1	hg19	c.1481C>T	CCDS11966.2	1	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943255	0.18281	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	3.35	-4.88	0.03113	3.35	-4.88	0.03113	.	2.060150	0.02265	N	0.067870	T	0.29423	0.0733	L	0.39898	1.24	0.09310	N	1	B	0.31256	0.316	B	0.26202	0.067	T	0.15607	-1.0431	10	0.56958	D	0.05	-0.0428	3.7053	0.08398	0.1041:0.1574:0.5208:0.2177	.	494	Q86TB3	ALPK2_HUMAN	I	494	ENSP00000354991:T494I	ENSP00000354991:T494I	T	-	2	0	0	ALPK2	54397507	54397507	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-1.184000	0.02720	-0.181000	0.13052	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_052947			135	131		536	518	1		1			0	0	136	0		1	0	0	0	0	0	0	135	536
MALT1	10892	broad.mit.edu	37	18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	123	Death.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTTCTCAGCCCCCCAGGT	0.428			T	BIRC3	MALT																																	ENST00000348428.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		18	18q21	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1				L	L	BIRC3		MALT		0				12						c.(367-369)aGc>aAc		mucosa associated lymphoid tissue lymphoma translocation gene 1							71.0	66.0	68.0					18																	56348560		2203	4300	6503	SO:0001583	missense	10892	0	0					g.chr18:56348560G>A		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.368G>A	chr18.hg19:g.56348560G>A	ENSP00000319279:p.Ser123Asn	0					MALT1_ENST00000345724.3_Missense_Mutation_p.S123N|RP11-126O1.4_ENST00000588835.1_RNA	p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	0	1	1	1.988234	Q9UDY8	MALT1_HUMAN		2	626	+			Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	1	1	hg19	c.368G>A	CCDS11967.1	1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265601	0.23136	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58940	0.3;0.3	6.03	2.81	0.32909	6.03	2.81	0.32909	DEATH-like (2);	0.270585	0.47093	N	0.000243	T	0.39733	0.1089	L	0.29908	0.895	0.25731	N	0.985262	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.18681	-1.0329	10	0.18710	T	0.47	-7.9095	8.2378	0.31636	0.429:0.0:0.571:0.0	.	123;123	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	123	ENSP00000319279:S123N;ENSP00000304161:S123N	ENSP00000304161:S123N	S	+	2	0	0	MALT1	54499540	54499540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	0.632000	0.30432	0.557000	0.71058	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-2.449569	0	0.170000				36	36		161	157	0		1	1		0	0	35	0		1	9.951200e-01	0	7	0	33	0	36	161
ZNF532	55205	broad.mit.edu	37	18	56585789	56585789	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	90					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGGCTTACATAATGGGTTTC	0.502																																						ENST00000336078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(268-270)caT>caC		zinc finger protein 532							90.0	75.0	80.0					18																	56585789		2203	4300	6503	SO:0001819	synonymous_variant	55205	0	0					g.chr18:56585789T>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.270T>C	chr18.hg19:g.56585789T>C		0					ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H	p.H90H	NM_018181.4	NP_060651.2	0	1	1	1.988234	Q9HCE3	ZN532_HUMAN		4	1046	+			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	1	1	hg19	c.270T>C	CCDS11969.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_018181			42	40		188	184	1		1	1		0	0	52	0		1	1	0	18	0	107	0	42	188
ZNF532	55205	broad.mit.edu	37	18	56586899	56586899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	460					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGTGAAGACGGCAGGATCCC	0.547																																						ENST00000336078.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999875	0.990000	1.000000																										0				52						c.(1378-1380)acG>acA		zinc finger protein 532																																				SO:0001819	synonymous_variant	55205	0	0					g.chr18:56586899G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1380G>A	chr18.hg19:g.56586899G>A		0					ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T	p.T460T	NM_018181.4	NP_060651.2	0	1	1	1.988234	Q9HCE3	ZN532_HUMAN		4	2156	+			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	0	1	hg19	c.1380G>A	CCDS11969.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_018181			33	30		198	190	1		1	0		0	0	39	0		1	9.995584e-01	0	0	0	74	0	33	198
ZNF532	55205	broad.mit.edu	37	18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	922					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGCTGTATCGCCACTTTGAC	0.418																																						ENST00000336078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2764-2766)cGc>cAc		zinc finger protein 532							122.0	119.0	120.0					18																	56615358		2203	4297	6500	SO:0001583	missense	55205	1	121412	30				g.chr18:56615358G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2765G>A	chr18.hg19:g.56615358G>A	ENSP00000338217:p.Arg922His	0					ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H	p.R922H	NM_018181.4	NP_060651.2	0	1	1	1.988234	Q9HCE3	ZN532_HUMAN		7	3541	+			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	1	1	hg19	c.2765G>A	CCDS11969.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883244	0.91740	.	.	ENSG00000074657	ENST00000336078	T	0.30981	1.51	5.59	5.59	0.84812	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.294510	0.35262	N	0.003333	T	0.40448	0.1117	L	0.60067	1.865	0.34671	D	0.723747	D;D	0.67145	0.991;0.996	P;P	0.48270	0.511;0.572	T	0.49322	-0.8952	10	0.36615	T	0.2	-16.9644	18.7313	0.91736	0.0:0.0:1.0:0.0	.	922;922	B3KXW2;Q9HCE3	.;ZN532_HUMAN	H	922	ENSP00000338217:R922H	ENSP00000338217:R922H	R	+	2	0	0	ZNF532	54766338	54766338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.906000	0.75719	2.783000	0.95769	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1		2	2	2	0		0	0	133		133	134	1	2.060000	-20.000000	1	0.170000	NM_018181			129	127		662	639	1		1	1		0	0	133	0		1	9.999999e-01	0	11	0	102	0	129	662
ZNF532	55205	broad.mit.edu	37	18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1139					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAAGGTCCCCAGTCCCAA	0.453																																						ENST00000336078.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				52						c.(3415-3417)Ccc>Tcc		zinc finger protein 532							83.0	86.0	85.0					18																	56651207		2203	4300	6503	SO:0001583	missense	55205	0	0					g.chr18:56651207C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3415C>T	chr18.hg19:g.56651207C>T	ENSP00000338217:p.Pro1139Ser	0					ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S	p.P1139S	NM_018181.4	NP_060651.2	0	1	1	1.988234	Q9HCE3	ZN532_HUMAN		11	4191	+			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	1	1	hg19	c.3415C>T	CCDS11969.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493039	0.44352	.	.	ENSG00000074657	ENST00000336078	T	0.01495	4.83	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.241087	0.42964	D	0.000630	T	0.02083	0.0065	L	0.38838	1.175	0.34340	D	0.688615	B;B	0.32939	0.063;0.391	B;B	0.28139	0.018;0.086	T	0.57142	-0.7862	10	0.24483	T	0.36	.	15.2524	0.73559	0.0:0.8599:0.1401:0.0	.	1139;1139	B3KXW2;Q9HCE3	.;ZN532_HUMAN	S	1139	ENSP00000338217:P1139S	ENSP00000338217:P1139S	P	+	1	0	0	ZNF532	54802187	54802187	0.737000	0.28175	0.991000	0.47740	0.270000	0.26580	1.743000	0.38258	2.769000	0.95229	0.561000	0.74099	CCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.147523	1	0.170000	NM_018181			53	51		297	288	1		1	1		0	0	69	0		1	9.999999e-01	0	17	0	123	0	53	297
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418																																						ENST00000299721.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.D121Y(1)	large_intestine(1)	16						c.(361-363)Gat>Aat		complexin 4							122.0	111.0	115.0					18																	56964052		2203	4300	6503	SO:0001583	missense	339302	0	0					g.chr18:56964052C>T	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>A	chr18.hg19:g.56964052C>T	ENSP00000299721:p.Asp121Asn	0					CPLX4_ENST00000587244.1_Intron	p.D121N	NM_181654.3	NP_857637.1	0	1	1	1.988234	Q7Z7G2	CPLX4_HUMAN		3	547	-		Colorectal(73;0.175)	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	1	1	hg19	c.361G>A	CCDS11973.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897524	0.72639	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.68659	0.3025	L	0.52759	1.655	0.80722	D	1	B	0.20887	0.049	B	0.35240	0.198	T	0.62950	-0.6745	9	0.34782	T	0.22	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	N	121	.	ENSP00000299721:D121N	D	-	1	0	0	CPLX4	55115032	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_181654			40	36		185	184	1		1			0	0	34	0		1	0	0	0	0	0	0	40	185
LMAN1	3998	broad.mit.edu	37	18	57014746	57014746	+	Splice_Site	SNP	G	G	A	rs41476148	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57014746G>A	ENST00000251047.5	-	7	1538	c.821C>T	c.(820-822)cCg>cTg	p.P274L	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	274					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)			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)	TAAAATTACCGGCTCTTTTCC	0.343													G|||	10	0.00199681	0.0061	0.0	5008	,	,		14675	0.0		0.002	False		,,,				2504	0.0					ENST00000251047.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999137	0.990000	1.000000																										0				16						c.(820-822)cCg>cTg		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)	G	LEU/PRO	31,4375	36.0+/-67.5	0,31,2172	32.0	37.0	35.0		821	1.9	0.4	18	dbSNP_127	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	LMAN1	NM_005570.3	98	0,32,6471	AA,AG,GG		0.0116,0.7036,0.246	benign	274/511	57014746	32,12974	2203	4300	6503	SO:0001630	splice_region_variant	3998	108	121352	47				g.chr18:57014746G>A	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.822+1C>T	chr18.hg19:g.57014746G>A		0					LMAN1_ENST00000587940.1_5'UTR	p.P274L	NM_005570.3	NP_005561.1	0	1	1	1.988234	P49257	LMAN1_HUMAN		7	1538	-		Colorectal(73;0.0946)	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	SNP	ENST00000251047.5	1	0	hg19	c.821C>T	CCDS11974.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.825	0.718537	0.15372	0.007036	1.16E-4	ENSG00000074695	ENST00000251047	T	0.57595	0.39	5.7	1.91	0.25777	5.7	1.91	0.25777	.	0.508561	0.22770	N	0.055858	T	0.19046	0.0457	N	0.04508	-0.205	0.41827	D	0.990053	B	0.06786	0.001	B	0.01281	0.0	T	0.03403	-1.1040	10	0.21540	T	0.41	-3.5685	9.2241	0.37395	0.3669:0.0:0.6331:0.0	rs41476148	274	P49257	LMAN1_HUMAN	L	274	ENSP00000251047:P274L	ENSP00000251047:P274L	P	-	2	0	0	LMAN1	55165726	55165726	0.997000	0.39634	0.421000	0.26609	0.428000	0.31595	0.657000	0.24963	0.354000	0.24105	-0.142000	0.14014	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-2.978297	1	0.170000	NM_005570	Missense_Mutation		13	13		55	53	1		1	1		0	0	15	0		9.996498e-01	1	0	74	0	430	0	13	55
CCBE1	147372	broad.mit.edu	37	18	57115222	57115222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000439986.4	-	7	805	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	256	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(766-768)ggC>ggT		collagen and calcium binding EGF domains 1							92.0	81.0	85.0					18																	57115222		2203	4300	6503	SO:0001819	synonymous_variant	147372	1	121412	31				g.chr18:57115222G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.768C>T	chr18.hg19:g.57115222G>A		0					CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	p.G256G	NM_133459.3	NP_597716.1	0	1	1	1.988234	Q6UXH8	CCBE1_HUMAN		7	805	-		Colorectal(73;0.175)	Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	1	1	hg19	c.768C>T	CCDS32838.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855409	0.32791	.	.	ENSG00000183287	ENST00000398179	D	0.84070	-1.8	5.62	2.72	0.32119	5.62	2.72	0.32119	.	.	.	.	.	T	0.72471	0.3464	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.62886	-0.6759	8	0.66056	D	0.02	-24.2524	3.7746	0.08654	0.2623:0.0:0.5666:0.1711	.	32	Q6UXH8-2	.	V	32	ENSP00000381241:A32V	ENSP00000381241:A32V	A	-	2	0	0	CCBE1	55266202	55266202	0.996000	0.38824	1.000000	0.80357	0.688000	0.40055	0.196000	0.17176	0.746000	0.32786	0.591000	0.81541	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	0	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_133459			103	102		465	455	1		1	0		0	0	89	0		1	1.550514e-01	0	0	0	4	0	103	465
CCBE1	147372	broad.mit.edu	37	18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	230					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(688-690)gGc>gAc		collagen and calcium binding EGF domains 1							110.0	79.0	90.0					18																	57115301		2203	4300	6503	SO:0001583	missense	147372	0	0					g.chr18:57115301C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.689G>A	chr18.hg19:g.57115301C>T	ENSP00000404464:p.Gly230Asp	0					CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	p.G230D	NM_133459.3	NP_597716.1	0	1	1	1.988234	Q6UXH8	CCBE1_HUMAN		7	726	-		Colorectal(73;0.175)	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	1	1	hg19	c.689G>A	CCDS32838.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672116|2.672116	0.47781|0.47781	.|.	.|.	ENSG00000183287|ENSG00000183287	ENST00000398179|ENST00000439986	T|T	0.33438|0.68479	1.41|-0.33	5.62|5.62	4.74|4.74	0.60224|0.60224	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.531492	.|0.21278	.|N	.|0.077192	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.57536|0.57536	1.79|1.79	0.21020|0.21020	N|N	0.999809|0.999809	P|P;P	0.40731|0.45531	0.728|0.666;0.86	B|B;P	0.41332|0.47075	0.354|0.194;0.536	T|T	0.64076|0.64076	-0.6492|-0.6492	9|10	0.87932|0.62326	D|D	0|0.03	-24.5082|-24.5082	11.0934|11.0934	0.48130|0.48130	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	6|230;39	Q6UXH8-2|Q6UXH8;Q6UXH8-3	.|CCBE1_HUMAN;.	T|D	6|230	ENSP00000381241:A6T|ENSP00000404464:G230D	ENSP00000381241:A6T|ENSP00000404464:G230D	A|G	-|-	1|2	0|0	0|0	CCBE1|CCBE1	55266281|55266281	55266281|55266281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.725000|3.725000	0.54970|0.54970	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCA|GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	1	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_133459			73	71		279	269	1		1	0		0	0	50	0		1	2.818010e-01	0	0	0	5	0	73	279
CETN1	1068	broad.mit.edu	37	18	580753	580753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCTTTGATGACGATGAGACCG	0.527																																						ENST00000327228.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				25						c.(343-345)gaC>gaT		centrin, EF-hand protein, 1							79.0	84.0	82.0					18																	580753		2203	4300	6503	SO:0001819	synonymous_variant	1068	0	0					g.chr18:580753C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.345C>T	chr18.hg19:g.580753C>T		0						p.D115D	NM_004066.1	NP_004057.1	1	2	3	2.007506	Q12798	CETN1_HUMAN		1	387	+			B2R536	Silent	SNP	ENST00000327228.3	1	1	hg19	c.345C>T	CCDS11820.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_004066			54	53		346	341	0		1			0	0	59	0		1	0	0	0	0	0	0	54	346
TMEM200C	645369	broad.mit.edu	37	18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	29						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612																																						ENST00000581347.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(85-87)cGg>cAg		transmembrane protein 200C							82.0	89.0	87.0					18																	5891977		2129	4247	6376	SO:0001583	missense	645369	0	0					g.chr18:5891977C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.86G>A	chr18.hg19:g.5891977C>T	ENSP00000463375:p.Arg29Gln	0					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA	p.R29Q			0	1	1	1.988234	A6NKL6	T200C_HUMAN		3	731	-				Missense_Mutation	SNP	ENST00000581347.2	1	1	hg19	c.86G>A	CCDS45825.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845131	0.91197	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.59436	1.845	0.44417	D	0.997337	D	0.89917	1.0	D	0.77557	0.99	T	0.79172	-0.1913	9	0.66056	D	0.02	-11.4275	18.2993	0.90158	0.0:1.0:0.0:0.0	.	29	A6NKL6	T200C_HUMAN	Q	29	.	ENSP00000372982:R29Q	R	-	2	0	0	TMEM200C	5881977	5881977	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.841000	0.62824	2.376000	0.81061	0.557000	0.71058	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-4.432540	1	0.170000	NM_001080209			47	46		149	146	1		1	0		0	0	43	0		1	6.752950e-01	0	0	0	9	0	47	149
MC4R	4160	broad.mit.edu	37	18	58038647	58038647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCTCTTTGAAGGTTTTCCTCA	0.418																																						ENST00000299766.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(934-936)acC>acT		melanocortin 4 receptor							131.0	124.0	127.0					18																	58038647		2203	4300	6503	SO:0001819	synonymous_variant	4160	0	0					g.chr18:58038647G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.936C>T	chr18.hg19:g.58038647G>A		0						p.T312T	NM_005912.2	NP_005903.2	0	1	1	1.988234	P32245	MC4R_HUMAN		1	1354	-		Colorectal(73;0.0946)	B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	1	1	hg19	c.936C>T	CCDS11976.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.290499	1	0.170000	NM_005912			84	83		383	380	1		1			0	0	88	0		1	0	0	0	0	0	0	84	383
CDH20	28316	broad.mit.edu	37	18	59217362	59217362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000536675.2_Silent_p.D600D|CDH20_ENST00000538374.1_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587																																						ENST00000262717.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1798-1800)gaC>gaT		cadherin 20, type 2							72.0	52.0	59.0					18																	59217362		2203	4300	6503	SO:0001819	synonymous_variant	28316	1	121412	31				g.chr18:59217362C>T	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.1800C>T	chr18.hg19:g.59217362C>T		0					CDH20_ENST00000538374.1_Silent_p.D600D|CDH20_ENST00000536675.2_Silent_p.D600D	p.D600D			0	1	1	1.988234	Q9HBT6	CAD20_HUMAN		11	2198	+		Colorectal(73;0.186)	Q495S3	Silent	SNP	ENST00000262717.4	1	1	hg19	c.1800C>T	CCDS11977.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_031891			55	54		230	227	1		1			0	0	50	1		1	0	0	0	0	0	0	55	230
CDH20	28316	broad.mit.edu	37	18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000536675.2_Missense_Mutation_p.A681V|CDH20_ENST00000538374.1_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	681					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667																																						ENST00000262717.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2041-2043)gCg>gTg		cadherin 20, type 2							69.0	74.0	72.0					18																	59221564		2203	4300	6503	SO:0001583	missense	28316	0	0					g.chr18:59221564C>T	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.2042C>T	chr18.hg19:g.59221564C>T	ENSP00000262717:p.Ala681Val	0					CDH20_ENST00000538374.1_Missense_Mutation_p.A681V|CDH20_ENST00000536675.2_Missense_Mutation_p.A681V	p.A681V			0	1	1	1.988234	Q9HBT6	CAD20_HUMAN		12	2440	+		Colorectal(73;0.186)	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	1	1	hg19	c.2042C>T	CCDS11977.1	1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085932	0.55861	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.049067	0.85682	D	0.000000	T	0.69646	0.3134	L	0.39245	1.2	0.58432	D	0.999999	B	0.28291	0.206	B	0.27380	0.079	T	0.64188	-0.6466	10	0.36615	T	0.2	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	681	Q9HBT6	CAD20_HUMAN	V	681	ENSP00000444767:A681V;ENSP00000442226:A681V;ENSP00000262717:A681V	ENSP00000262717:A681V	A	+	2	0	0	CDH20	57372544	57372544	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.877000	0.63086	2.894000	0.99253	0.655000	0.94253	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000	NM_031891			141	142		672	665	1		1			0	0	130	0		1	0	0	0	0	0	0	141	672
L3MBTL4	91133	broad.mit.edu	37	18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	529					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)			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)				ACGCCTGGAAGCAACTTGCAG	0.647																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6	1.000000	0.850000	1	9.900000e-01	0.990000	0.987297	0.990000	1.000000																										0				39						c.(1585-1587)Ctt>Ttt		l(3)mbt-like 4 (Drosophila)							56.0	65.0	62.0					18																	5969448		2130	4243	6373	SO:0001583	missense	91133	0	0					g.chr18:5969448G>A	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.1585C>T	chr18.hg19:g.5969448G>A	ENSP00000284898:p.Leu529Phe	0					L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F	p.L529F	NM_173464.3	NP_775735.2	0	1	1	1.988234	Q8NA19	LMBL4_HUMAN		18	1785	-		Colorectal(10;0.0249)	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	1	1	hg19	c.1585C>T	CCDS11839.2	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565267	0.86439	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.19394	2.15;2.15;2.15;2.16	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	M	0.76170	2.325	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43065	-0.9414	10	0.59425	D	0.04	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	529;520	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	529;520;529;333	ENSP00000382976:L529F;ENSP00000318543:L520F;ENSP00000284898:L529F;ENSP00000444774:L333F	ENSP00000284898:L529F	L	-	1	0	0	L3MBTL4	5959448	5959448	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	6.371000	0.73119	2.586000	0.87340	0.655000	0.94253	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	1		2	2	2	0		0	0	83		83	80	1	2.060000	-20.000000	1	0.170000	NM_173464			44	43		404	399	0		1	0		0	0	83	0		1	5.304989e-02	0	0	0	4	0	44	404
RNF152	220441	broad.mit.edu	37	18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T	rs561051015	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	80					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGTGGAATGGCGATGACAGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18371	0.0		0.0	False		,,,				2504	0.0					ENST00000312828.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				17						c.(238-240)Gcc>Acc		ring finger protein 152							85.0	92.0	90.0					18																	59483459		2203	4300	6503	SO:0001583	missense	220441	1	121412	31				g.chr18:59483459C>T	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.238G>A	chr18.hg19:g.59483459C>T	ENSP00000316628:p.Ala80Thr	0						p.A80T	NM_173557.2	NP_775828.1	0	1	1	1.988234	Q8N8N0	RN152_HUMAN		2	1337	-		Colorectal(73;0.186)	B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	1	1	hg19	c.238G>A	CCDS11978.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163620	0.57476	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.122835	0.53938	D	0.000044	T	0.69895	0.3162	N	0.12182	0.205	0.49213	D	0.999769	B	0.10296	0.003	B	0.04013	0.001	T	0.64462	-0.6402	10	0.13470	T	0.59	-3.2112	18.4187	0.90579	0.0:1.0:0.0:0.0	.	80	Q8N8N0	RN152_HUMAN	T	80	ENSP00000316628:A80T	ENSP00000316628:A80T	A	-	1	0	0	RNF152	57634439	57634439	0.999000	0.42202	0.997000	0.53966	0.898000	0.52572	4.107000	0.57811	2.600000	0.87896	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.144245	1	0.170000	NM_173557			49	49		294	290	0		1	0		0	0	37	0		1	7.506010e-01	0	0	0	18	0	49	294
KIAA1468	57614	broad.mit.edu	37	18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000398130.2	+	10	1790	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000256858.6_Missense_Mutation_p.M520V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	520										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAAAAGCGTTATGTTAATGCT	0.393																																						ENST00000398130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1558-1560)Atg>Gtg		KIAA1468							133.0	121.0	125.0					18																	59899598		2203	4300	6503	SO:0001583	missense	57614	0	0					g.chr18:59899598A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1558A>G	chr18.hg19:g.59899598A>G	ENSP00000381198:p.Met520Val	0					KIAA1468_ENST00000256858.6_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR	p.M520V	NM_020854.3	NP_065905.2	0	1	1	1.988234	Q9P260	K1468_HUMAN		10	1790	+		Colorectal(73;0.186)		Missense_Mutation	SNP	ENST00000398130.2	1	1	hg19	c.1558A>G	CCDS11979.2	1	.	.	.	.	.	.	.	.	.	.	A	2.814	-0.246424	0.05867	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.67523	-0.27;-0.27	5.57	5.57	0.84162	5.57	5.57	0.84162	Armadillo-like helical (1);	0.116238	0.85682	D	0.000000	T	0.37999	0.1024	N	0.01352	-0.895	0.58432	D	0.999994	B;B;B	0.17268	0.007;0.021;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.39860	-0.9593	9	.	.	.	-17.632	16.0172	0.80450	1.0:0.0:0.0:0.0	.	520;520;164	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	520	ENSP00000381198:M520V;ENSP00000256858:M520V	.	M	+	1	0	0	KIAA1468	58050578	58050578	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.863000	0.75489	2.239000	0.73571	0.528000	0.53228	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_020854			53	53		199	195	1		1	1		0	0	71	0		1	9.961407e-01	0	9	0	26	0	53	199
KIAA1468	57614	broad.mit.edu	37	18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000398130.2	+	28	3758	c.3526C>T	c.(3526-3528)Caa>Taa	p.Q1176*	RP11-173A16.1_ENST00000591014.1_RNA|KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.Q1210*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1176										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGAGCCTCAAGGGTAAGA	0.294																																						ENST00000398130.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				47						c.(3526-3528)Caa>Taa		KIAA1468							66.0	67.0	66.0					18																	59966089		2203	4299	6502	SO:0001587	stop_gained	57614	0	0					g.chr18:59966089C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3526C>T	chr18.hg19:g.59966089C>T	ENSP00000381198:p.Gln1176*	0					RP11-173A16.1_ENST00000591014.1_RNA|KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.Q1210*	p.Q1176*	NM_020854.3	NP_065905.2	0	1	1	1.988234	Q9P260	K1468_HUMAN		28	3758	+		Colorectal(73;0.186)		Nonsense_Mutation	SNP	ENST00000398130.2	0	1	hg19	c.3526C>T	CCDS11979.2	1	.	.	.	.	.	.	.	.	.	.	C	44	10.535140	0.99423	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.109052	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4767	19.6622	0.95877	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1210	.	.	Q	+	1	0	0	KIAA1468	58117069	58117069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.707000	0.92482	0.557000	0.71058	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_020854			27	27		139	139	1		1	1		0	0	46	0		1	9.999991e-01	0	37	0	87	0	27	139
TNFRSF11A	8792	broad.mit.edu	37	18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	156					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)			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)				CCTTGCCTTGCAGGCTACTTC	0.423																																						ENST00000586569.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(466-468)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							150.0	139.0	142.0					18																	60025520		2203	4300	6503	SO:0001583	missense	8792	0	0					g.chr18:60025520C>T	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.467C>T	chr18.hg19:g.60025520C>T	ENSP00000465500:p.Ala156Val	0					TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	0	1	1	1.988234	Q9Y6Q6	TNR11_HUMAN		5	505	+		Colorectal(73;0.188)	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	1	1	hg19	c.467C>T	CCDS11980.1	1	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130838	0.06753	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61510	0.1	5.84	-11.6	0.00059	5.84	-11.6	0.00059	TNFR/CD27/30/40/95 cysteine-rich region (1);	3.105210	0.00797	N	0.001399	T	0.35451	0.0932	N	0.13371	0.34	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.08055	0.002;0.003	T	0.14200	-1.0481	9	.	.	.	6.3304	13.7445	0.62868	0.0772:0.6654:0.0783:0.1791	.	178;156	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	V	178;156	ENSP00000269485:A156V	.	A	+	2	0	0	TNFRSF11A	58176500	58176500	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.609000	0.05635	-2.601000	0.00451	-0.484000	0.04775	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000				96	93		469	449	1		1	1		0	0	149	0		1	9.978903e-01	0	19	0	28	0	96	469
TNFRSF11A	8792	broad.mit.edu	37	18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	241					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)			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)				AAAGGGAAAGCACTCACAGGT	0.418																																						ENST00000586569.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(721-723)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							155.0	144.0	148.0					18																	60029018		2203	4300	6503	SO:0001583	missense	8792	0	0					g.chr18:60029018C>T	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.722C>T	chr18.hg19:g.60029018C>T	ENSP00000465500:p.Ala241Val	0					TNFRSF11A_ENST00000269485.7_Intron	p.A241V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	0	1	1	1.988234	Q9Y6Q6	TNR11_HUMAN		7	760	+		Colorectal(73;0.188)	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	1	1	hg19	c.722C>T	CCDS11980.1	1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109338	0.20714	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	2.56	0.30785	5.66	2.56	0.30785	.	0.809251	0.11152	N	0.594005	T	0.33614	0.0869	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25537	-1.0129	8	.	.	.	-0.9648	4.5426	0.12066	0.1507:0.566:0.0:0.2833	.	241	Q9Y6Q6	TNR11_HUMAN	V	241	.	.	A	+	2	0	0	TNFRSF11A	58179998	58179998	0.004000	0.15560	0.223000	0.23860	0.756000	0.42949	0.345000	0.19979	0.677000	0.31305	-0.136000	0.14681	GCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000				158	155		725	711	0		1	1		0	0	155	0		1	1	0	56	0	75	0	158	725
PHLPP1	23239	broad.mit.edu	37	18	60563230	60563230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60563230A>C	ENST00000262719.5	+	6	2664	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N	PHLPP1_ENST00000400316.4_Missense_Mutation_p.K298N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	810					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTCACATTAAACATGTGGATC	0.398																																						ENST00000262719.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				17						c.(2428-2430)aaA>aaC		PH domain and leucine rich repeat protein phosphatase 1							63.0	58.0	60.0					18																	60563230		1852	4094	5946	SO:0001583	missense	23239	0	0					g.chr18:60563230A>C	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.2430A>C	chr18.hg19:g.60563230A>C	ENSP00000262719:p.Lys810Asn	0					PHLPP1_ENST00000400316.4_Missense_Mutation_p.K298N	p.K810N			0	1	1	1.988234	O60346	PHLP1_HUMAN		6	2664	+			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	0	1	hg19	c.2430A>C	CCDS45881.2	1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931076	0.73327	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26810	1.71;1.71	5.07	1.4	0.22301	5.07	1.4	0.22301	.	.	.	.	.	T	0.33962	0.0881	L	0.50993	1.605	0.46011	D	0.998815	D	0.65815	0.995	P	0.56700	0.804	T	0.07790	-1.0754	9	0.62326	D	0.03	-17.1732	9.0123	0.36148	0.5768:0.0:0.4232:0.0	.	810	O60346	PHLP1_HUMAN	N	298;810	ENSP00000383170:K298N;ENSP00000262719:K810N	ENSP00000262719:K810N	K	+	3	2	2	PHLPP1	58714210	58714210	0.578000	0.26717	1.000000	0.80357	0.996000	0.88848	-0.019000	0.12546	0.420000	0.25954	0.533000	0.62120	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-15.943890	1	0.170000	NM_194449			25	25		118	117	0		1	1		0	0	21	0		9.999999e-01	9.887545e-01	0	12	0	25	0	25	118
PHLPP1	23239	broad.mit.edu	37	18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000262719.5	+	16	4022	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1263	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)			endometrium(2)|kidney(2)|lung(13)	17						AAGCTTGGTGGTGCCGCTGTC	0.517																																						ENST00000262719.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(3787-3789)gGt>gAt		PH domain and leucine rich repeat protein phosphatase 1							141.0	137.0	138.0					18																	60642662		2041	4183	6224	SO:0001583	missense	23239	0	0					g.chr18:60642662G>A	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.3788G>A	chr18.hg19:g.60642662G>A	ENSP00000262719:p.Gly1263Asp	0					PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D	p.G1263D			0	1	1	1.988234	O60346	PHLP1_HUMAN		16	4022	+			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	1	1	hg19	c.3788G>A	CCDS45881.2	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352950	0.82132	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09630	2.96;2.96	5.28	5.28	0.74379	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.29716	0.0742	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00270	-1.1860	9	0.30854	T	0.27	-13.5906	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1263	O60346	PHLP1_HUMAN	D	751;1263	ENSP00000383170:G751D;ENSP00000262719:G1263D	ENSP00000262719:G1263D	G	+	2	0	0	PHLPP1	58793642	58793642	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.244000	0.65400	2.751000	0.94390	0.555000	0.69702	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_194449			72	72		421	412	1		1	1	0	0	0	122	0		1	9.793058e-01	0	9	0	29	1	72	421
PHLPP1	23239	broad.mit.edu	37	18	60645587	60645587	+	Silent	SNP	C	C	T	rs376314377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000262719.5	+	17	4311	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	PHLPP1_ENST00000400316.4_Silent_p.S847S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1359	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)			endometrium(2)|kidney(2)|lung(13)	17						ACGTGCAGTCCGTGCTCCTGA	0.622																																						ENST00000262719.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				17						c.(4075-4077)tcC>tcT		PH domain and leucine rich repeat protein phosphatase 1		C		0,4322		0,0,2161	38.0	43.0	41.0		4077	-9.5	0.1	18		41	2,8514		0,2,4256	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6417	TT,TC,CC		0.0235,0.0,0.0156		1359/1718	60645587	2,12836	2161	4258	6419	SO:0001819	synonymous_variant	23239	17	121194	41				g.chr18:60645587C>T	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.4077C>T	chr18.hg19:g.60645587C>T		0					PHLPP1_ENST00000400316.4_Silent_p.S847S	p.S1359S			0	1	1	1.988234	O60346	PHLP1_HUMAN		17	4311	+			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	1	1	hg19	c.4077C>T	CCDS45881.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_194449			18	18		68	67	0		1	1		0	0	17	0		9.999908e-01	9.953043e-01	0	10	0	27	0	18	68
PHLPP1	23239	broad.mit.edu	37	18	60646154	60646154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000262719.5	+	17	4878	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	PHLPP1_ENST00000400316.4_Silent_p.D1036D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1548					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTGACAGTGACGATGAGGAGC	0.622																																						ENST00000262719.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998665	0.990000	1.000000																										0				17						c.(4642-4644)gaC>gaT		PH domain and leucine rich repeat protein phosphatase 1							42.0	44.0	43.0					18																	60646154		2102	4211	6313	SO:0001819	synonymous_variant	23239	2	121038	30				g.chr18:60646154C>T	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.4644C>T	chr18.hg19:g.60646154C>T		0					PHLPP1_ENST00000400316.4_Silent_p.D1036D	p.D1548D			0	1	1	1.988234	O60346	PHLP1_HUMAN		17	4878	+			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	1	1	hg19	c.4644C>T	CCDS45881.2	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-19.999990	1	0.170000	NM_194449			14	14		69	66	1		1	1		0	0	17	0		9.997968e-01	9.964486e-01	0	14	0	37	0	14	69
KDSR	2531	broad.mit.edu	37	18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	169					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)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547																																						ENST00000406396.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(505-507)Gtg>Atg		3-ketodihydrosphingosine reductase							114.0	108.0	110.0					18																	61018225		2203	4300	6503	SO:0001583	missense	2531	0	0					g.chr18:61018225C>T		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.505G>A	chr18.hg19:g.61018225C>T	ENSP00000385083:p.Val169Met	0					KDSR_ENST00000326575.5_Intron	p.V169M	NM_002035.2	NP_002026.1	0	1	1	1.988234	Q06136	KDSR_HUMAN		6	896	-			B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	1	1	hg19	c.505G>A	CCDS11982.1	1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489014	0.64074	.	.	ENSG00000119537	ENST00000406396	D	0.92149	-2.98	5.95	5.95	0.96441	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.093753	0.64402	D	0.000001	D	0.92825	0.7718	M	0.88842	2.985	0.80722	D	1	P	0.45396	0.857	B	0.34138	0.176	D	0.93825	0.7122	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	169	Q06136	KDSR_HUMAN	M	169	ENSP00000385083:V169M	ENSP00000385083:V169M	V	-	1	0	0	KDSR	59169205	59169205	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	3.970000	0.56824	2.824000	0.97209	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2	1	0	1		2	2	2	0		0	0	121		121	117	1	2.060000	-20.000000	1	0.170000				106	105		519	508	1		1	1		0	0	121	0		1	1	0	98	0	268	0	106	519
VPS4B	9525	broad.mit.edu	37	18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	423					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)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATTGACTGTAGGTTTTGTGTT	0.353																																						ENST00000238497.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				13						c.(1267-1269)cCt>cAt		vacuolar protein sorting 4 homolog B (S. cerevisiae)							128.0	119.0	122.0					18																	61058275		2203	4300	6503	SO:0001583	missense	9525	0	0					g.chr18:61058275G>T	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.1268C>A	chr18.hg19:g.61058275G>T	ENSP00000238497:p.Pro423His	0						p.P423H	NM_004869.3	NP_004860.2	0	1	1	1.988234	O75351	VPS4B_HUMAN		11	1471	-			Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	1	1	hg19	c.1268C>A	CCDS11983.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007448	0.93287	.	.	ENSG00000119541	ENST00000238497	D	0.95377	-3.69	5.78	5.78	0.91487	5.78	5.78	0.91487	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-6.5659	20.0203	0.97492	0.0:0.0:1.0:0.0	.	423	O75351	VPS4B_HUMAN	H	423	ENSP00000238497:P423H	ENSP00000238497:P423H	P	-	2	0	0	VPS4B	59209255	59209255	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	9.835000	0.99442	2.730000	0.93505	0.655000	0.94253	CCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-2.819071	1	0.170000	NM_004869			34	34		166	164	1		1	1		0	0	38	0		1	1	0	53	0	122	0	34	166
SERPINB5	5268	broad.mit.edu	37	18	61154290	61154290	+	Missense_Mutation	SNP	G	G	A	rs377697959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61154290G>A	ENST00000382771.4	+	3	572	c.280G>A	c.(280-282)Gta>Ata	p.V94I	SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I|RP11-635N19.3_ENST00000602456.1_RNA	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	94					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCGGCTCTACGTAGACAAATC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		21211	0.0		0.001	False		,,,				2504	0.0					ENST00000382771.4	0.500000	0.130000	3.900000e-01	1.900000e-01	0.280000	0.299441	0.280000	0.270000																										0				12						c.(280-282)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 5		G	ILE/VAL	0,4406		0,0,2203	83.0	81.0	82.0		280	-0.2	0.0	18		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB5	NM_002639.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	94/376	61154290	1,13005	2203	4300	6503	SO:0001583	missense	5268	5	121406	40				g.chr18:61154290G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.280G>A	chr18.hg19:g.61154290G>A	ENSP00000372221:p.Val94Ile	0					RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I	p.V94I	NM_002639.4	NP_002630.2	0	1	1	1.988234	P36952	SPB5_HUMAN		3	572	+			B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	0	1	hg19	c.280G>A	CCDS32839.1	0	.	.	.	.	.	.	.	.	.	.	G	0.164	-1.078385	0.01903	0.0	1.16E-4	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84516	-1.86;-1.86	5.12	-0.218	0.13142	5.12	-0.218	0.13142	Serpin domain (3);	0.554792	0.16710	N	0.202711	T	0.72779	0.3503	N	0.25647	0.755	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.12156	0.002;0.007	T	0.62115	-0.6922	10	0.56958	D	0.05	.	7.6841	0.28530	0.2986:0.0:0.5894:0.112	.	94;94	P36952;P36952-2	SPB5_HUMAN;.	I	94	ENSP00000372221:V94I;ENSP00000408821:V94I	ENSP00000372221:V94I	V	+	1	0	0	SERPINB5	59305270	59305270	0.264000	0.24093	0.047000	0.18901	0.902000	0.53008	0.384000	0.20668	0.016000	0.14998	-0.813000	0.03139	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.165232	1	0.170000	NM_002639			8	8		337	329	0		1	1		0	0	78	0		9.883903e-01	9.942773e-01	0	35	0	363	0	8	337
SERPINB12	89777	broad.mit.edu	37	18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000269491.1	+	5	528	c.528G>T	c.(526-528)aaG>aaT	p.K176N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K196N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	176					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)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTTCAGCAAGGACGCTATTA	0.368																																						ENST00000269491.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(526-528)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 12							186.0	164.0	171.0					18																	61231236		2203	4300	6503	SO:0001583	missense	89777	0	0					g.chr18:61231236G>T	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.528G>T	chr18.hg19:g.61231236G>T	ENSP00000269491:p.Lys176Asn	0					SERPINB12_ENST00000382768.1_Missense_Mutation_p.K196N	p.K176N	NM_080474.1	NP_536722.1	0	1	1	1.988234	Q96P63	SPB12_HUMAN		5	528	+			Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	1	1	hg19	c.528G>T	CCDS11984.1	1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894220	0.52121	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84873	-1.91;-1.91	5.57	2.78	0.32641	5.57	2.78	0.32641	Serpin domain (3);	0.358223	0.27035	N	0.021254	D	0.82444	0.5038	L	0.53729	1.69	0.24583	N	0.993861	B;P	0.40578	0.324;0.722	B;P	0.46172	0.31;0.506	T	0.71178	-0.4669	10	0.30854	T	0.27	.	7.3732	0.26813	0.4014:0.0:0.5986:0.0	.	196;176	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	176;196	ENSP00000269491:K176N;ENSP00000372218:K196N	ENSP00000269491:K176N	K	+	3	2	2	SERPINB12	59382216	59382216	0.000000	0.05858	0.945000	0.38365	0.902000	0.53008	-0.617000	0.05584	0.834000	0.34852	0.655000	0.94253	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-2.935504	1	0.170000	NM_080474			94	89		463	441	1		1			0	0	109	0		1	0	0	0	0	0	0	94	463
SERPINB13	5275	broad.mit.edu	37	18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	192					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGAGTTTAAGAAAGAAAATA	0.378																																						ENST00000344731.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				25						c.(574-576)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 13							93.0	90.0	91.0					18																	61261692		2203	4300	6503	SO:0001583	missense	5275	0	0					g.chr18:61261692G>T	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.576G>T	chr18.hg19:g.61261692G>T	ENSP00000341584:p.Lys192Asn	0					SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	p.K192N	NM_012397.3	NP_036529.1	0	1	1	1.988234	Q9UIV8	SPB13_HUMAN		6	678	+			A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	1	1	hg19	c.576G>T	CCDS11985.1	1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451689	0.26074	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83992	-1.79;-1.56	5.73	0.181	0.15073	5.73	0.181	0.15073	Serpin domain (3);	0.108239	0.41294	N	0.000918	T	0.77618	0.4157	N	0.26042	0.785	0.32915	D	0.515049	P;B;D	0.89917	0.685;0.011;1.0	B;B;D	0.87578	0.381;0.015;0.998	T	0.74990	-0.3475	10	0.06099	T	0.92	.	4.2783	0.10820	0.2794:0.0:0.2086:0.512	.	201;110;192	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	192;110;192	ENSP00000269489:K192N;ENSP00000341584:K192N	ENSP00000269489:K192N	K	+	3	2	2	SERPINB13	59412672	59412672	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-0.849000	0.04322	0.135000	0.18707	0.655000	0.94253	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_012397			53	50		319	299	1		1			0	0	65	0		1	0	0	0	0	0	0	53	319
SERPINB13	5275	broad.mit.edu	37	18	61264460	61264460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61264460G>A	ENST00000344731.5	+	8	1141	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A295T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	347					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGGCTGCAGCTGCCACCGG	0.537																																						ENST00000344731.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1039-1041)Gct>Act		serpin peptidase inhibitor, clade B (ovalbumin), member 13							64.0	55.0	58.0					18																	61264460		2203	4300	6503	SO:0001583	missense	5275	0	0					g.chr18:61264460G>A	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.1039G>A	chr18.hg19:g.61264460G>A	ENSP00000341584:p.Ala347Thr	0					SERPINB13_ENST00000269489.5_Missense_Mutation_p.A295T	p.A347T	NM_012397.3	NP_036529.1	0	1	1	1.988234	Q9UIV8	SPB13_HUMAN		8	1141	+			A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	1	0	hg19	c.1039G>A	CCDS11985.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636651	0.67130	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.87809	-2.3;-2.08	5.3	4.44	0.53790	5.3	4.44	0.53790	Serpin domain (3);	0.000000	0.52532	D	0.000076	D	0.94118	0.8114	M	0.90759	3.145	0.58432	D	0.999991	D;D;D	0.89917	0.988;0.987;1.0	P;P;D	0.91635	0.893;0.691;0.999	D	0.94669	0.7855	10	0.66056	D	0.02	.	13.0074	0.58712	0.0776:0.0:0.9224:0.0	.	356;265;347	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	T	295;265;347	ENSP00000269489:A295T;ENSP00000341584:A347T	ENSP00000269489:A295T	A	+	1	0	0	SERPINB13	59415440	59415440	1.000000	0.71417	0.009000	0.14445	0.254000	0.26022	6.722000	0.74735	1.254000	0.44035	0.557000	0.71058	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-1.163457	0	0.170000	NM_012397			62	62		285	280	1		1			0	0	70	0		1	0	0	0	0	0	0	62	285
SERPINB4	6318	broad.mit.edu	37	18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T	rs386804122		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	351					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)			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						AATTCGACTACTACTACAGCG	0.463																																						ENST00000341074.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1051-1053)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 4							117.0	112.0	114.0					18																	61305075		2203	4300	6503	SO:0001583	missense	6318	0	0					g.chr18:61305075C>T	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.1051G>A	chr18.hg19:g.61305075C>T	ENSP00000343445:p.Val351Ile	0					SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	p.V351I	NM_002974.2	NP_002965.1	0	1	1	1.988234	P48594	SPB4_HUMAN		8	1166	-			A8K847	Missense_Mutation	SNP	ENST00000341074.5	1	1	hg19	c.1051G>A	CCDS11986.1	1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103374	0.08731	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.82081	-1.57;-1.57	4.25	-8.49	0.00931	4.25	-8.49	0.00931	Serpin domain (3);	4.508830	0.01035	N	0.004211	T	0.57403	0.2051	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.61004	-0.7150	10	0.05351	T	0.99	.	7.6912	0.28569	0.0897:0.6499:0.0898:0.1706	.	351;351;330	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	351;299	ENSP00000343445:V351I;ENSP00000348795:V299I	ENSP00000343445:V351I	V	-	1	0	0	SERPINB4	59456055	59456055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.282000	0.00260	-2.173000	0.00773	-1.275000	0.01399	GTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_175041			88	87		452	444	1		1	1		0	0	101	0		1	4.481110e-01	0	7	0	2	0	88	452
SERPINB11	89778	broad.mit.edu	37	18	61377552	61377552	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000382749.5	+	0	370				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_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)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTAAGCATGGTCCTCCTTGGT	0.448																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000382749.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							118.0	109.0	112.0					18																	61377552		1900	4130	6030			89778	0	0					g.chr18:61377552T>C			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		chr18.hg19:g.61377552T>C		0					SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA				0	1	1	1.988234	Q96P15	SPB11_HUMAN		0	370	+		Esophageal squamous(42;0.129)	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	1	0	hg19			1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193059	0.58017	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	5.14	5.14	0.70334	Serpin domain (3);	1.020130	0.07854	N	0.965175	T	0.82121	0.4968	L	0.39085	1.19	0.80722	D	1	D;P	0.57257	0.979;0.517	P;B	0.47402	0.546;0.253	T	0.77078	-0.2721	10	0.72032	D	0.01	.	13.1919	0.59715	0.0:0.0:0.0:1.0	.	42;42	F5GY69;Q96P15	.;SPB11_HUMAN	A	42	ENSP00000441497:V42A;ENSP00000440795:V42A	ENSP00000421854:V42A	V	+	2	0	0	SERPINB11	59528532	59528532	0.920000	0.31207	0.977000	0.42913	0.928000	0.56348	5.259000	0.65485	2.051000	0.60960	0.533000	0.62120	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_080475			47	46		208	204	1		1	0		0	0	37	0		1	9.271999e-02	0	0	0	3	0	47	208
SERPINB7	8710	broad.mit.edu	37	18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	206					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368																																						ENST00000398019.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.997451	0.990000	1.000000																										0				27						c.(616-618)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							162.0	144.0	150.0					18																	61468118		2203	4300	6503	SO:0001583	missense	8710	4	121412	42				g.chr18:61468118G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.616G>A	chr18.hg19:g.61468118G>A	ENSP00000381101:p.Ala206Thr	0					SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	p.A206T	NM_003784.3	NP_003775.1	0	1	1	1.988234	O75635	SPB7_HUMAN		7	941	+		Esophageal squamous(42;0.129)	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	1	1	hg19	c.616G>A	CCDS11988.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064020	0.36373	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.1	-9.16	0.00694	5.1	-9.16	0.00694	Serpin domain (3);	1.594020	0.03372	N	0.199196	T	0.07954	0.0199	L	0.49513	1.565	0.09310	N	1	B;B	0.22346	0.003;0.068	B;B	0.15484	0.005;0.013	T	0.34800	-0.9814	10	0.72032	D	0.01	.	1.1245	0.01732	0.3147:0.3374:0.1226:0.2253	.	189;206	F5GZC0;O75635	.;SPB7_HUMAN	T	206;206;189;206	ENSP00000337212:A206T;ENSP00000381101:A206T;ENSP00000444572:A189T;ENSP00000444861:A206T	ENSP00000337212:A206T	A	+	1	0	0	SERPINB7	59619098	59619098	0.000000	0.05858	0.001000	0.08648	0.847000	0.48162	-0.302000	0.08221	-1.427000	0.01992	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	1	0	1		18	3	2	1		1	1	109		109	108	1	2.060000	-19.532480	1	0.170000	NM_003784			62	62		529	519	1		1	1		1	0	109	0		9.999999e-01	6.662310e-01	0	6	0	26	0	62	529
SERPINB10	5273	broad.mit.edu	37	18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	238					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAAAGCAGTGGGCCTTCAACT	0.378																																						ENST00000238508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(712-714)Ggc>Tgc		serpin peptidase inhibitor, clade B (ovalbumin), member 10							118.0	129.0	125.0					18																	61600360		2203	4300	6503	SO:0001583	missense	5273	0	0					g.chr18:61600360G>T	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.712G>T	chr18.hg19:g.61600360G>T	ENSP00000238508:p.Gly238Cys	0						p.G238C	NM_005024.1	NP_005015.1	0	1	1	1.988234	P48595	SPB10_HUMAN		7	771	+		Esophageal squamous(42;0.131)	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	1	1	hg19	c.712G>T	CCDS11990.1	1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520658	0.27211	.	.	ENSG00000242550	ENST00000238508	D	0.82619	-1.63	5.95	4.17	0.49024	5.95	4.17	0.49024	Serpin domain (3);	0.332680	0.32703	N	0.005745	D	0.86456	0.5937	L	0.56124	1.755	0.09310	N	0.999995	D	0.76494	0.999	D	0.66716	0.946	T	0.77755	-0.2469	10	0.87932	D	0	.	8.3816	0.32474	0.285:0.0:0.715:0.0	.	238	P48595	SPB10_HUMAN	C	238	ENSP00000238508:G238C	ENSP00000238508:G238C	G	+	1	0	0	SERPINB10	59751340	59751340	0.124000	0.22315	0.240000	0.24138	0.009000	0.06853	1.407000	0.34657	1.539000	0.49286	-0.136000	0.14681	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-4.706184	1	0.170000	NM_005024			128	126		422	409	1		1			0	0	122	0		1	0	0	0	0	0	0	128	422
L3MBTL4	91133	broad.mit.edu	37	18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000284898.6	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	56					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)			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)				TTTCAAGTACCACTCCCAAGA	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										0				39						c.(166-168)tGg>tAg		l(3)mbt-like 4 (Drosophila)							86.0	88.0	88.0					18																	6263998		2203	4300	6503	SO:0001587	stop_gained	91133	0	0					g.chr18:6263998C>T	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.167G>A	chr18.hg19:g.6263998C>T	ENSP00000284898:p.Trp56*	0					L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.W56*	p.W56*	NM_173464.3	NP_775735.2	0	1	1	1.988234	Q8NA19	LMBL4_HUMAN		5	367	-		Colorectal(10;0.0249)	A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	0	1	hg19	c.167G>A	CCDS11839.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.274849	0.97435	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	.	.	.	5.04	2.67	0.31697	5.04	2.67	0.31697	.	0.187021	0.34676	N	0.003775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4813	0.27406	0.0:0.1287:0.0:0.8713	.	.	.	.	X	56	.	ENSP00000284898:W56X	W	-	2	0	0	L3MBTL4	6253998	6253998	0.293000	0.24371	1.000000	0.80357	0.974000	0.67602	0.304000	0.19228	0.360000	0.24265	-0.142000	0.14014	TGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-2.921789	1	0.170000	NM_173464			41	41		261	253	0		1	0		0	0	93	0		1	1.438759e-01	0	0	0	5	0	41	261
SERPINB8	5271	broad.mit.edu	37	18	61650907	61650907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397985.2	+	5	775	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Silent_p.E173E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	173					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)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393																																						ENST00000397985.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(517-519)gaG>gaA		serpin peptidase inhibitor, clade B (ovalbumin), member 8							125.0	119.0	121.0					18																	61650907		2203	4300	6503	SO:0001819	synonymous_variant	5271	0	0					g.chr18:61650907G>A	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.519G>A	chr18.hg19:g.61650907G>A		0					SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E	p.E173E	NM_001276490.1	NP_001263419.1	0	1	1	1.988234	P50452	SPB8_HUMAN		5	775	+		Esophageal squamous(42;0.129)	B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	1	1	hg19	c.519G>A	CCDS11991.1	1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174580	0.06421	.	.	ENSG00000166401	ENST00000295211	.	.	.	5.65	-4.13	0.03904	5.65	-4.13	0.03904	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	3.1715	0.06554	0.4879:0.0866:0.2433:0.1823	.	.	.	.	N	115	.	.	S	+	2	0	0	SERPINB8	59801887	59801887	0.000000	0.05858	0.012000	0.15200	0.538000	0.34931	-2.035000	0.01423	-0.698000	0.05085	-0.137000	0.14449	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	1	0	1		2	2	2	0		0	0	100		100	97	1	2.060000	-20.000000	1	0.170000	NM_001031848			89	88		406	396	1		1	1		0	0	100	0		1	1	0	45	0	88	0	89	406
CDH7	1005	broad.mit.edu	37	18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	724					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)			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)				GATCCTGGTGCTCCTCCTTAT	0.418																																						ENST00000397968.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2170-2172)gCt>gTt		cadherin 7, type 2							117.0	126.0	123.0					18																	63547943		2203	4300	6503	SO:0001583	missense	1005	0	0					g.chr18:63547943C>T	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.2171C>T	chr18.hg19:g.63547943C>T	ENSP00000381058:p.Ala724Val	0					CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	p.A724V	NM_004361.2	NP_004352.2	0	1	1	1.988234	Q9ULB5	CADH7_HUMAN		12	2597	+		Esophageal squamous(42;0.129)	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	1	1	hg19	c.2171C>T	CCDS11993.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886486	0.33348	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.27785	T	0.31	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	724	Q9ULB5	CADH7_HUMAN	V	724	ENSP00000319166:A724V;ENSP00000381058:A724V	ENSP00000319166:A724V	A	+	2	0	0	CDH7	61698923	61698923	1.000000	0.71417	0.103000	0.21229	0.029000	0.11900	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_033646			135	134		584	569	1		1			0	0	99	0		1	0	0	0	0	0	0	135	584
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000262150.2	-	12	2340	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {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)			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)				CAAAGACTGCCTGTATAGGCT	0.483																																						ENST00000262150.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2047-2049)aGg>aAg		cadherin 19, type 2							165.0	158.0	160.0					18																	64172320		2203	4300	6503	SO:0001583	missense	28513	1	121410	33				g.chr18:64172320C>T	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	ENST00000262150.2:c.2048G>A	chr18.hg19:g.64172320C>T	ENSP00000262150:p.Arg683Lys	0					CDH19_ENST00000540086.1_3'UTR	p.R683K	NM_021153.3	NP_066976.1	0	1	1	1.988234	Q96JQ0	PCD16_HUMAN		12	2340	-		Esophageal squamous(42;0.0132)	O15098	Missense_Mutation	SNP	ENST00000262150.2	1	1	hg19	c.2048G>A	CCDS11994.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947956	0.73787	.	.	ENSG00000071991	ENST00000262150	T	0.76448	-1.02	5.19	5.19	0.71726	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.85044	0.5607	M	0.63428	1.95	0.28559	N	0.911229	D	0.76494	0.999	D	0.74023	0.982	T	0.80106	-0.1521	10	0.66056	D	0.02	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	K	683	ENSP00000262150:R683K	ENSP00000262150:R683K	R	-	2	0	0	CDH19	62323300	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-3.331212	1	0.170000	NM_021153			167	160		786	765	1		1	0		0	0	151	0		1	2.857907e-01	0	0	0	6	0	167	786
DSEL	92126	broad.mit.edu	37	18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T	rs369391532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1080			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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)				GGTTCATACTCGAAAGCATAA	0.363																																						ENST00000310045.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				74						c.(3268-3270)Gag>Aag		dermatan sulfate epimerase-like		C	LYS/GLU	0,4406		0,0,2203	69.0	66.0	67.0		3268	4.8	0.7	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DSEL	NM_032160.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1090/1223	65178608	1,13005	2203	4300	6503	SO:0001583	missense	92126	1	121308	32				g.chr18:65178608C>T	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.3268G>A	chr18.hg19:g.65178608C>T	ENSP00000310565:p.Glu1090Lys	0					CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	p.E1090K	NM_032160.2	NP_115536.1	0	1	1	1.988234	Q8IZU8	DSEL_HUMAN		2	4741	-		Esophageal squamous(42;0.129)	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	1	1	hg19	c.3268G>A	CCDS11995.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495674	0.64186	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.79	4.79	0.61399	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.467156	0.19485	U	0.113125	T	0.45875	0.1364	M	0.68952	2.095	0.50813	D	0.99989	D	0.63880	0.993	P	0.56474	0.799	T	0.48768	-0.9006	10	0.66056	D	0.02	-16.9802	18.2029	0.89844	0.0:1.0:0.0:0.0	.	1080	Q8IZU8	DSEL_HUMAN	K	1090;1080	ENSP00000310565:E1090K	ENSP00000310565:E1090K	E	-	1	0	0	DSEL	63329588	63329588	1.000000	0.71417	0.725000	0.30721	0.448000	0.32197	5.870000	0.69620	2.356000	0.79943	0.563000	0.77884	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.340505	1	0.170000	NM_032160			41	39		218	213	1		1	1		0	0	63	0		1	9.832244e-01	0	8	0	29	0	41	218
DSEL	92126	broad.mit.edu	37	18	65178816	65178816	+	Silent	SNP	C	C	A	rs139752903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1010					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)			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)				GAAGCTTTAACGTCCAGCTTC	0.418																																						ENST00000310045.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3058-3060)acG>acT		dermatan sulfate epimerase-like							78.0	82.0	80.0					18																	65178816		2203	4300	6503	SO:0001819	synonymous_variant	92126	0	0					g.chr18:65178816C>A	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.3060G>T	chr18.hg19:g.65178816C>A		0					CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	p.T1020T	NM_032160.2	NP_115536.1	0	1	1	1.988234	Q8IZU8	DSEL_HUMAN		2	4533	-		Esophageal squamous(42;0.129)	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	1	1	hg19	c.3060G>T	CCDS11995.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_032160			104	103		416	412	1		1	1		0	0	100	0		1	9.973442e-01	0	8	0	30	0	104	416
TYMS	7298	broad.mit.edu	37	18	670816	670816	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323274.10	+	5	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_ENST00000323250.5_Silent_p.I144I|TYMS_ENST00000323224.7_Silent_p.I193I|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					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.I227I(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)	CTTTCAACATCGCCAGCTACG	0.587																																						ENST00000323274.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I227I(1)	endometrium(1)	8						c.(679-681)atC>atT		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)						165.0	128.0	140.0					18																	670816		2203	4300	6503	SO:0001819	synonymous_variant	7298	0	0					g.chr18:670816C>T	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.681C>T	chr18.hg19:g.670816C>T		0					TYMS_ENST00000323250.5_Silent_p.I144I|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I	p.I227I	NM_001071.2	NP_001062.1	1	2	3	2.007506	P04818	TYSY_HUMAN		5	820	+			Q8WYK3|Q8WYK4	Silent	SNP	ENST00000323274.10	1	1	hg19	c.681C>T	CCDS11821.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_001071			94	94		460	453	1		1	1		0	0	130	0		1	1	0	59	0	87	0	94	460
TYMS	7298	broad.mit.edu	37	18	672975	672975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323274.10	+	7	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	307					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)			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)	CATCCAACTATTAAAATGGAA	0.418																																						ENST00000323274.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(919-921)aTt>aGt		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)						94.0	98.0	96.0					18																	672975		2203	4300	6503	SO:0001583	missense	7298	0	0					g.chr18:672975T>G	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.920T>G	chr18.hg19:g.672975T>G	ENSP00000315644:p.Ile307Ser	0					TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S	p.I307S	NM_001071.2	NP_001062.1	1	2	3	2.007506	P04818	TYSY_HUMAN		7	1059	+			Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	1	1	hg19	c.920T>G	CCDS11821.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986971	0.74589	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044615	0.85682	D	0.000000	D	0.91402	0.7287	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.979;0.994	D	0.95074	0.8207	9	0.87932	D	0	-14.2036	16.3101	0.82865	0.0:0.0:0.0:1.0	.	224;273;307	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	S	307;273;224	.	ENSP00000314727:I273S	I	+	2	0	0	TYMS	662975	662975	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.758000	0.85224	2.247000	0.74100	0.528000	0.53228	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_001071			110	109		595	587	1		1	1		0	0	115	0		1	1	0	64	0	84	0	110	595
DSEL	92126	broad.mit.edu	37	18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	971					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)			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)				CATTTGACTTCTTTGTTCTGG	0.398																																						ENST00000310045.7	1.000000	0.970000	1	9.900000e-01	0.990000	0.997991	0.990000	1.000000																										0				74						c.(2941-2943)aGa>aTa		dermatan sulfate epimerase-like							47.0	53.0	51.0					18																	65178934		2191	4299	6490	SO:0001583	missense	92126	0	0					g.chr18:65178934C>A	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.2942G>T	chr18.hg19:g.65178934C>A	ENSP00000310565:p.Arg981Ile	0					CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	p.R981I	NM_032160.2	NP_115536.1	0	1	1	1.988234	Q8IZU8	DSEL_HUMAN		2	4415	-		Esophageal squamous(42;0.129)	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	1	1	hg19	c.2942G>T	CCDS11995.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591988	0.46214	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20463	2.07	5.17	4.29	0.51040	5.17	4.29	0.51040	Sulfotransferase domain (1);	0.078108	0.50627	U	0.000120	T	0.32102	0.0818	L	0.44542	1.39	0.54753	D	0.999988	D	0.58970	0.984	P	0.60541	0.876	T	0.02567	-1.1140	10	0.87932	D	0	-17.4992	10.2898	0.43588	0.0:0.848:0.0:0.152	.	971	Q8IZU8	DSEL_HUMAN	I	981;971	ENSP00000310565:R981I	ENSP00000310565:R981I	R	-	2	0	0	DSEL	63329914	63329914	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.523000	0.35932	2.403000	0.81681	0.563000	0.77884	AGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	0	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_032160			47	45		377	366	1		1	1		0	0	91	0		1	9.836826e-01	0	9	0	45	0	47	377
RTTN	25914	broad.mit.edu	37	18	67855345	67855345	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000454359.1_Splice_Site_p.M435T|RTTN_ENST00000437017.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	435					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				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)				GATTCTTACCATATCTATACC	0.333																																						ENST00000255674.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1303-1305)aTg>aCg		rotatin							98.0	88.0	91.0					18																	67855345		1816	4077	5893	SO:0001630	splice_region_variant	25914	0	0					g.chr18:67855345A>G	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.1305+1T>C	chr18.hg19:g.67855345A>G		0					RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	p.M435T	NM_173630.3	NP_775901.3	0	1	1	1.988234	Q86VV8	RTTN_HUMAN		10	1590	-		Esophageal squamous(42;0.129)	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	1	0	hg19	c.1304T>C	CCDS42443.1	1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927553	0.34002	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64085	0.67;-0.08;-0.08	5.53	5.53	0.82687	5.53	5.53	0.82687	Armadillo-type fold (1);	0.125811	0.56097	D	0.000035	T	0.55305	0.1912	L	0.44542	1.39	0.33720	D	0.616864	B;B	0.31817	0.152;0.341	B;B	0.27076	0.023;0.076	T	0.69109	-0.5232	10	0.72032	D	0.01	.	15.6644	0.77217	1.0:0.0:0.0:0.0	.	435;435	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	435	ENSP00000255674:M435T;ENSP00000402352:M435T;ENSP00000399520:M435T	ENSP00000255674:M435T	M	-	2	0	0	RTTN	66006325	66006325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.815000	0.86186	2.101000	0.63845	0.533000	0.62120	ATG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.998900	1	0.170000	NM_173630	Missense_Mutation		35	35		136	132	1		1	0		0	0	56	0		1	1.135317e-01	0	1	0	2	0	35	136
RTTN	25914	broad.mit.edu	37	18	67863822	67863822	+	Silent	SNP	C	C	T	rs183715905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000454359.1_Silent_p.S252S|RTTN_ENST00000437017.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	252					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				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)				GGCAGGACACCGACTGTAATG	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.001		0.0	False		,,,				2504	0.0					ENST00000255674.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				80						c.(754-756)tcG>tcA		rotatin		T		1,3775		0,1,1887	83.0	81.0	82.0		756	-6.0	0.8	18		82	0,8244		0,0,4122	no	coding-synonymous	RTTN	NM_173630.3		0,1,6009	TT,TC,CC		0.0,0.0265,0.0083		252/2227	67863822	1,12019	1888	4122	6010	SO:0001819	synonymous_variant	25914	1	120832	32				g.chr18:67863822C>T	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.756G>A	chr18.hg19:g.67863822C>T		0					RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	p.S252S	NM_173630.3	NP_775901.3	0	1	1	1.988234	Q86VV8	RTTN_HUMAN		7	1042	-		Esophageal squamous(42;0.129)	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	1	1	hg19	c.756G>A	CCDS42443.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-2.314588	0	0.170000	NM_173630			48	48		269	264	1		1	0		0	0	69	0		1	3.538505e-01	0	0	0	8	0	48	269
ARHGAP28	79822	broad.mit.edu	37	18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	rs2303978	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000383472.4	+	3	606	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	168			I -> V (in dbSNP:rs2303978).		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)			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)				TAAGCAATCTATCAGGGATGT	0.468													A|||	5	0.000998403	0.0	0.0	5008	,	,		15722	0.004		0.0	False		,,,				2504	0.001					ENST00000383472.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(502-504)Atc>Gtc		Rho GTPase activating protein 28							111.0	102.0	105.0					18																	6837372		2203	4300	6503	SO:0001583	missense	79822	101	121412	49				g.chr18:6837372A>G	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.502A>G	chr18.hg19:g.6837372A>G	ENSP00000372964:p.Ile168Val	0					ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I9V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V	p.I168V			0	1	1	1.988234	Q9P2N2	RHG28_HUMAN		3	606	+		Colorectal(10;0.168)	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	1	0	hg19	c.502A>G		1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	A	0.008	-1.907140	0.00512	.	.	ENSG00000088756	ENST00000400091;ENST00000532723;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986	T;T;T;T;T;T;T	0.19938	2.11;2.26;2.11;3.46;3.46;3.46;3.39	5.65	0.755	0.18415	5.65	0.755	0.18415	.	0.444690	0.26297	N	0.025190	T	0.03608	0.0103	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	10.7975	0.46470	0.3132:0.0:0.6868:0.0	rs2303978;rs52829196;rs2303978	9;116	F6VKJ9;Q9P2N2-2	.;.	V	168;116;116;9;9;9;9	ENSP00000382963:I168V;ENSP00000433390:I116V;ENSP00000262227:I116V;ENSP00000392660:I9V;ENSP00000437262:I9V;ENSP00000313506:I9V;ENSP00000406907:I9V	ENSP00000262227:I116V	I	+	1	0	0	ARHGAP28	6827372	6827372	0.175000	0.23083	0.002000	0.10522	0.206000	0.24218	0.912000	0.28597	-0.069000	0.12931	-0.766000	0.03442	ATC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.827533	1	0.170000	XM_371108			53	53		237	231	1		1	0		0	0	46	0		1	3.471411e-02	0	0	0	2	0	53	237
ARHGAP28	79822	broad.mit.edu	37	18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000383472.4	+	6	880	c.776C>T	c.(775-777)cCg>cTg	p.P259L	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P100L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	259					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)			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)				AATGGATCACCGGAGCCTGGA	0.463																																						ENST00000383472.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.986666	0.990000	1.000000																										0				37						c.(775-777)cCg>cTg		Rho GTPase activating protein 28							168.0	141.0	150.0					18																	6868198		2203	4300	6503	SO:0001583	missense	79822	0	0					g.chr18:6868198C>T	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.776C>T	chr18.hg19:g.6868198C>T	ENSP00000372964:p.Pro259Leu	0					ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P100L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L	p.P259L			0	1	1	1.988234	Q9P2N2	RHG28_HUMAN		6	880	+		Colorectal(10;0.168)	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	1	1	hg19	c.776C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410856	0.25465	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07021	3.38;3.34;3.3;3.3;3.3;3.23	5.72	3.69	0.42338	5.72	3.69	0.42338	.	1.798430	0.02100	N	0.053861	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21452	0.007;0.005;0.056;0.005	B;B;B;B	0.12837	0.002;0.001;0.008;0.001	T	0.24548	-1.0157	10	0.30854	T	0.27	.	6.5227	0.22285	0.2533:0.6558:0.0:0.0909	.	259;91;100;207	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	259;207;100;95;100;100;91;82	ENSP00000382963:P259L;ENSP00000262227:P207L;ENSP00000392660:P100L;ENSP00000437262:P95L;ENSP00000313506:P100L;ENSP00000406907:P100L	ENSP00000262227:P207L	P	+	2	0	0	ARHGAP28	6858198	6858198	0.006000	0.16342	0.005000	0.12908	0.201000	0.24016	1.625000	0.37029	1.572000	0.49736	0.655000	0.94253	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.458501	0	0.170000	XM_371108			24	24		202	201	1		1	0		0	0	48	0		9.999998e-01	6.302859e-02	0	0	0	4	0	24	202
LAMA1	284217	broad.mit.edu	37	18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2953	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)			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)				ACCATTGTTGACATGGAACAA	0.408																																						ENST00000389658.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				205						c.(8857-8859)gTc>gCc		laminin, alpha 1							141.0	127.0	132.0					18																	6943388		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:6943388A>G	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.8858T>C	chr18.hg19:g.6943388A>G	ENSP00000374309:p.Val2953Ala	0						p.V2953A	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		62	8951	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.8858T>C	CCDS32787.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933569	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.41	5.41	0.78517	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000004	D	0.85465	0.5703	L	0.60845	1.875	0.46078	D	0.998851	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.917	D	0.84686	0.0720	10	0.37606	T	0.19	.	15.5018	0.75705	1.0:0.0:0.0:0.0	.	2953;283	P25391;B3KSD8	LAMA1_HUMAN;.	A	2953	ENSP00000374309:V2953A	ENSP00000374309:V2953A	V	-	2	0	0	LAMA1	6933388	6933388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.146000	0.77373	2.073000	0.62155	0.456000	0.33151	GTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_005559			64	62		271	263	1		1	0		0	0	87	0		1	3.272650e-01	0	0	0	6	0	64	271
LAMA1	284217	broad.mit.edu	37	18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2945	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)			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)				TTGCCGTCCACAAGCTCTAGT	0.522																																						ENST00000389658.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				205						c.(8833-8835)Gtg>Atg		laminin, alpha 1							149.0	109.0	123.0					18																	6947173		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:6947173C>T	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.8833G>A	chr18.hg19:g.6947173C>T	ENSP00000374309:p.Val2945Met	0						p.V2945M	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		61	8926	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.8833G>A	CCDS32787.1	1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542615	0.13250	.	.	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.64	2.88	0.33553	5.64	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.291766	0.31884	N	0.006913	T	0.80110	0.4563	M	0.84683	2.71	0.09310	N	1	B;B	0.34200	0.393;0.441	B;B	0.40199	0.232;0.322	T	0.70916	-0.4742	10	0.33141	T	0.24	.	11.315	0.49386	0.0:0.8068:0.0:0.1932	.	2945;275	P25391;B3KSD8	LAMA1_HUMAN;.	M	2945	ENSP00000374309:V2945M	ENSP00000374309:V2945M	V	-	1	0	0	LAMA1	6937173	6937173	0.366000	0.25014	0.040000	0.18447	0.107000	0.19398	0.920000	0.28705	1.404000	0.46819	-0.448000	0.05591	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_005559			50	50		252	245	1		1	0		0	0	81	0		1	3.332488e-01	0	0	0	7	0	50	252
LAMA1	284217	broad.mit.edu	37	18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2886					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)			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)				GGCCACTGCGTAGCACCTGTT	0.542																																						ENST00000389658.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				205						c.(8656-8658)tAc>tGc		laminin, alpha 1							164.0	108.0	127.0					18																	6948455		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:6948455T>C	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.8657A>G	chr18.hg19:g.6948455T>C	ENSP00000374309:p.Tyr2886Cys	0						p.Y2886C	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		60	8750	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.8657A>G	CCDS32787.1	1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579569	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.7	3.27	0.37495	5.7	3.27	0.37495	Concanavalin A-like lectin/glucanase, subgroup (1);	0.234553	0.36665	N	0.002474	T	0.41305	0.1153	M	0.70595	2.14	0.32520	N	0.536383	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.55211	-0.8176	10	0.72032	D	0.01	.	11.188	0.48669	0.2451:0.0:0.0:0.7549	.	2886;216	P25391;B3KSD8	LAMA1_HUMAN;.	C	2886	ENSP00000374309:Y2886C	ENSP00000374309:Y2886C	Y	-	2	0	0	LAMA1	6938455	6938455	0.993000	0.37304	0.480000	0.27341	0.012000	0.07955	2.448000	0.44926	0.412000	0.25729	-0.444000	0.05651	TAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_005559			43	43		182	179	1		1	0		0	0	47	0		1	1.727721e-01	0	0	0	4	0	43	182
LAMA1	284217	broad.mit.edu	37	18	6973184	6973184	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	ENST00000389658.3	-	47	6739	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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)				TCCTTTACACTCAGTGAACCA	0.378																																						ENST00000389658.3	0.700000	0.250000	5.800000e-01	3.400000e-01	0.440000	0.464753	0.440000	0.430000																										0				205						c.(6646-6648)Agt>Ggt		laminin, alpha 1							145.0	135.0	138.0					18																	6973184		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:6973184T>C	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.6646A>G	chr18.hg19:g.6973184T>C	ENSP00000374309:p.Ser2216Gly	0					RN7SL537P_ENST00000584392.1_RNA	p.S2216G	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		47	6739	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.6646A>G	CCDS32787.1	0	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287825	0.59976	.	.	ENSG00000101680	ENST00000389658	T	0.78126	-1.15	5.52	4.32	0.51571	5.52	4.32	0.51571	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.407860	0.26836	N	0.022253	T	0.77432	0.4129	L	0.60845	1.875	0.28094	N	0.931683	P	0.40970	0.734	B	0.44315	0.446	T	0.71849	-0.4468	10	0.49607	T	0.09	.	12.8178	0.57675	0.0:0.0:0.1365:0.8635	.	2216	P25391	LAMA1_HUMAN	G	2216	ENSP00000374309:S2216G	ENSP00000374309:S2216G	S	-	1	0	0	LAMA1	6963184	6963184	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.058000	0.71126	0.992000	0.38840	0.523000	0.50628	AGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.690392	1	0.170000	NM_005559			14	13		357	343	0		1	0		0	0	90	1		9.996882e-01	4.017956e-02	0	0	0	8	0	14	357
LAMA1	284217	broad.mit.edu	37	18	7013955	7013955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	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)			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)				AACACTGATCGCAGGCCCGGC	0.597																																						ENST00000389658.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				205						c.(3220-3222)tgC>tgT		laminin, alpha 1							49.0	40.0	43.0					18																	7013955		2203	4300	6503	SO:0001819	synonymous_variant	284217	3	121412	28				g.chr18:7013955G>A	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.3222C>T	chr18.hg19:g.7013955G>A		0						p.C1074C	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		23	3315	-		Colorectal(10;0.172)		Silent	SNP	ENST00000389658.3	1	1	hg19	c.3222C>T	CCDS32787.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	30		30	28	1	2.060000	-20.000000	1	0.170000	NM_005559			26	26		112	108	1		1	0		0	0	30	0		1	4.718941e-01	0	0	0	8	0	26	112
LAMA1	284217	broad.mit.edu	37	18	7015724	7015724	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11. {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)			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)				TGCTCACCTGGCACCCCACCT	0.512																																						ENST00000389658.3	0.650000	0.280000	5.500000e-01	3.500000e-01	0.440000	0.457719	0.440000	0.430000																										0				205						c.(3121-3123)tgC>tgT		laminin, alpha 1							137.0	115.0	123.0					18																	7015724		2203	4300	6503	SO:0001819	synonymous_variant	284217	0	0					g.chr18:7015724G>A	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.3123C>T	chr18.hg19:g.7015724G>A		0						p.C1041C	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		22	3216	-		Colorectal(10;0.172)		Silent	SNP	ENST00000389658.3	1	1	hg19	c.3123C>T	CCDS32787.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.889443	1	0.170000	NM_005559			21	22		535	526	0		1	0		0	0	118	0		9.999972e-01	1.487745e-02	0	0	0	5	0	21	535
LAMA1	284217	broad.mit.edu	37	18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)			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)				CACATTGGCAAGGACAGTCAT	0.408																																						ENST00000389658.3	0.840000	0.350000	7.100000e-01	4.500000e-01	0.570000	0.585473	0.570000	0.550000																										0				205						c.(1987-1989)cTt>cCt		laminin, alpha 1							153.0	141.0	145.0					18																	7034541		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:7034541A>G	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.1988T>C	chr18.hg19:g.7034541A>G	ENSP00000374309:p.Leu663Pro	0						p.L663P	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		14	2081	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.1988T>C	CCDS32787.1	0	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418436	0.83559	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	5.9	5.9	0.94986	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.070910	0.56097	D	0.000021	D	0.83519	0.5272	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.59425	D	0.04	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	663	P25391	LAMA1_HUMAN	P	663	ENSP00000374309:L663P	ENSP00000374309:L663P	L	-	2	0	0	LAMA1	7024541	7024541	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.175000	0.89684	2.257000	0.74773	0.533000	0.62120	CTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-4.691027	1	0.170000	NM_005559			19	18		374	372	0		1	0		0	0	73	0		9.999907e-01	3.469906e-02	0	0	0	6	0	19	374
SOCS6	9306	broad.mit.edu	37	18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	319					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)				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)				CCAATGCAGAATAATCAAATC	0.502																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(955-957)aAt>aCt		suppressor of cytokine signaling 6							77.0	73.0	75.0					18																	67992860		2203	4300	6503	SO:0001583	missense	9306	0	0					g.chr18:67992860A>C	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.956A>C	chr18.hg19:g.67992860A>C	ENSP00000381034:p.Asn319Thr	0					SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	p.N319T	NM_004232.3	NP_004223.2	0	1	1	1.988234	O14544	SOCS6_HUMAN		2	1272	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	1	1	hg19	c.956A>C	CCDS11998.1	1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940237	0.18281	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.08	1.63	0.23807	5.08	1.63	0.23807	.	0.292022	0.31177	N	0.008102	T	0.10937	0.0267	N	0.11560	0.145	0.34538	D	0.709975	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.25106	T	0.35	-6.9417	5.9643	0.19316	0.6703:0.169:0.1607:0.0	.	319	O14544	SOCS6_HUMAN	T	319	ENSP00000381034:N319T	ENSP00000381034:N319T	N	+	2	0	0	SOCS6	66143840	66143840	0.982000	0.34865	0.169000	0.22859	0.978000	0.69477	1.537000	0.36083	0.057000	0.16193	0.459000	0.35465	AAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				72	72		315	309	1		1	1		0	0	91	0		1	1	0	49	0	67	0	72	315
NETO1	81832	broad.mit.edu	37	18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	513					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)				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)		ATACTGACCGCTGGACGGCTT	0.433																																						ENST00000327305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1537-1539)caG>caT		neuropilin (NRP) and tolloid (TLL)-like 1							79.0	70.0	73.0					18																	70417299		2203	4300	6503	SO:0001583	missense	81832	0	0					g.chr18:70417299C>A	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.1539G>T	chr18.hg19:g.70417299C>A	ENSP00000313088:p.Gln513His	0					NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H|RNA5SP460_ENST00000516789.1_RNA	p.Q513H	NM_138966.3	NP_620416	0	1	1	1.988234	Q8TDF5	NETO1_HUMAN		9	2196	-		Esophageal squamous(42;0.129)	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	1	1	hg19	c.1539G>T	CCDS12000.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436457	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24723	1.84;1.85	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.45236	0.1332	L	0.41236	1.265	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.78314	0.991;0.979	T	0.11966	-1.0566	10	0.44086	T	0.13	-8.9025	19.973	0.97292	0.0:1.0:0.0:0.0	.	512;513	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	513;512	ENSP00000313088:Q513H;ENSP00000299430:Q512H	ENSP00000299430:Q512H	Q	-	3	2	2	NETO1	68568279	68568279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_138999			54	53		225	223	1		1	0		0	0	51	0		1	0	0	0	0	1	0	54	225
LAMA1	284217	broad.mit.edu	37	18	7043403	7043403	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.978A>G	c.(976-978)gcA>gcG	p.A326A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	326	Laminin EGF-like 1. {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)			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)				GACAATTACATGCTAGGAGAA	0.338																																						ENST00000389658.3	0.650000	0.230000	5.400000e-01	3.100000e-01	0.410000	0.432719	0.410000	0.410000																										0				205						c.(976-978)gcA>gcG		laminin, alpha 1							97.0	86.0	90.0					18																	7043403		2203	4300	6503	SO:0001630	splice_region_variant	284217	0	0					g.chr18:7043403T>C	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.977-1A>G	chr18.hg19:g.7043403T>C		0						p.A326A	NM_005559.3	NP_005550.2	0	1	1	1.988234	P25391	LAMA1_HUMAN		8	1071	-		Colorectal(10;0.172)		Splice_Site	SNP	ENST00000389658.3	0	1	hg19	c.978A>G	CCDS32787.1	0																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.526900	1	0.170000	NM_005559	Silent		14	14		385	383	0		1	0		0	0	75	0		9.997565e-01	0	0	0	0	1	0	14	385
NETO1	81832	broad.mit.edu	37	18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	389					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)				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)		TGAGGAGGTTCAAATACCTCC	0.428																																						ENST00000327305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1165-1167)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							88.0	82.0	84.0					18																	70417673		2203	4300	6503	SO:0001583	missense	81832	0	0					g.chr18:70417673C>T	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.1165G>A	chr18.hg19:g.70417673C>T	ENSP00000313088:p.Glu389Lys	0					NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K|RNA5SP460_ENST00000516789.1_RNA	p.E389K	NM_138966.3	NP_620416	0	1	1	1.988234	Q8TDF5	NETO1_HUMAN		9	1822	-		Esophageal squamous(42;0.129)	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	1	1	hg19	c.1165G>A	CCDS12000.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.408397	0.96051	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.44881	0.91;0.91	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	T	0.63105	0.2483	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.76071	0.987;0.867	T	0.65043	-0.6264	10	0.72032	D	0.01	-21.3855	19.1774	0.93607	0.0:1.0:0.0:0.0	.	388;389	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	389;388	ENSP00000313088:E389K;ENSP00000299430:E388K	ENSP00000299430:E388K	E	-	1	0	0	NETO1	68568653	68568653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.442000	0.80503	2.594000	0.87642	0.455000	0.32223	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.466513	1	0.170000	NM_138999			67	63		291	287	1		1	0		0	0	78	0		1	3.590395e-02	0	0	0	2	0	67	291
NETO1	81832	broad.mit.edu	37	18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	191	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)				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)		GCTTTGCCTTCCTTCATAATT	0.458																																						ENST00000327305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(571-573)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							159.0	141.0	147.0					18																	70461420		2203	4300	6503	SO:0001583	missense	81832	0	0					g.chr18:70461420C>T	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.571G>A	chr18.hg19:g.70461420C>T	ENSP00000313088:p.Glu191Lys	0					NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	p.E191K	NM_138966.3	NP_620416	0	1	1	1.988234	Q8TDF5	NETO1_HUMAN		6	1228	-		Esophageal squamous(42;0.129)	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	1	1	hg19	c.571G>A	CCDS12000.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.093415	0.94149	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.57752	0.38;0.38	5.29	5.29	0.74685	5.29	5.29	0.74685	CUB (4);	0.000000	0.64402	D	0.000011	T	0.63212	0.2492	M	0.73598	2.24	0.80722	D	1	P;P	0.45768	0.728;0.866	B;P	0.46389	0.217;0.515	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.1455	18.9328	0.92572	0.0:1.0:0.0:0.0	.	190;191	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	191;190	ENSP00000313088:E191K;ENSP00000299430:E190K	ENSP00000299430:E190K	E	-	1	0	0	NETO1	68612400	68612400	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	0		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_138999			89	89		415	403	1		1			0	0	111	0		1	0	0	0	0	0	0	89	415
NETO1	81832	broad.mit.edu	37	18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	187	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)				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)		CCTTCATAATTTGTATAGACT	0.438																																						ENST00000327305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(559-561)caA>caC		neuropilin (NRP) and tolloid (TLL)-like 1							140.0	127.0	131.0					18																	70461430		2203	4300	6503	SO:0001583	missense	81832	0	0					g.chr18:70461430T>G	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.561A>C	chr18.hg19:g.70461430T>G	ENSP00000313088:p.Gln187His	0					NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	p.Q187H	NM_138966.3	NP_620416	0	1	1	1.988234	Q8TDF5	NETO1_HUMAN		6	1218	-		Esophageal squamous(42;0.129)	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	1	1	hg19	c.561A>C	CCDS12000.1	1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254677	0.59212	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.39592	1.07;1.07	5.29	-3.05	0.05396	5.29	-3.05	0.05396	CUB (4);	0.000000	0.56097	D	0.000026	T	0.58264	0.2110	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.991;0.981	T	0.60662	-0.7219	10	0.66056	D	0.02	-13.7615	11.5235	0.50565	0.0:0.4964:0.0:0.5036	.	186;187	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	187;186	ENSP00000313088:Q187H;ENSP00000299430:Q186H	ENSP00000299430:Q186H	Q	-	3	2	2	NETO1	68612410	68612410	0.627000	0.27129	0.727000	0.30756	0.741000	0.42261	-0.207000	0.09384	-0.588000	0.05882	-0.256000	0.11100	CAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	0		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_138999			85	83		390	379	1		1			0	0	106	0		1	0	0	0	0	0	0	85	390
ENOSF1	55556	broad.mit.edu	37	18	706481	706481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000251101.7	-	2	270	c.182G>A	c.(181-183)gGc>gAc	p.G61D	ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	61					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418																																						ENST00000251101.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(181-183)gGc>gAc		enolase superfamily member 1							146.0	122.0	130.0					18																	706481		2203	4300	6503	SO:0001583	missense	55556	1	121412	39				g.chr18:706481C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.182G>A	chr18.hg19:g.706481C>T	ENSP00000251101:p.Gly61Asp	0					ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|RP11-806L2.6_ENST00000580007.1_RNA	p.G61D	NM_017512.5	NP_059982.2	1	2	3	2.007506	Q7L5Y1	ENOF1_HUMAN		2	270	-			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	1	1	hg19	c.182G>A	CCDS11822.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120108|2.120108	0.37436|0.37436	.|.	.|.	ENSG00000132199|ENSG00000132199	ENST00000383578|ENST00000251101;ENST00000340116;ENST00000539164	T|T;T;T	0.30182|0.46063	1.54|0.88;0.88;0.88	5.56|5.56	4.69|4.69	0.59074|0.59074	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	.|0.049387	.|0.85682	.|N	.|0.000000	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.43708|0.43708	D|D	0.996177|0.996177	B|D;D;D	0.14805|0.76494	0.011|0.999;0.997;0.998	B|D;D;D	0.11329|0.72338	0.006|0.977;0.962;0.957	T|T	0.68800|0.68800	-0.5313|-0.5313	8|9	0.62326|0.87932	D|D	0.03|0	.|.	12.9562|12.9562	0.58430|0.58430	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	18|82;106;61	Q7L5Y1-2|A6NMP3;Q6ZS08;Q7L5Y1	.|.;.;ENOF1_HUMAN	T|D	18|61;82;61	ENSP00000373072:A18T|ENSP00000251101:G61D;ENSP00000345974:G82D;ENSP00000446321:G61D	ENSP00000373072:A18T|ENSP00000251101:G61D	A|G	-|-	1|2	0|0	0|0	ENOSF1|ENOSF1	696481|696481	696481|696481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	4.071000|4.071000	0.57556|0.57556	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCA|GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_017512			81	76		397	392	1		1	1		0	0	108	0		1	9.290410e-01	0	3	0	21	0	81	397
NETO1	81832	broad.mit.edu	37	18	70532465	70532465	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70532465A>C	ENST00000327305.6	-	2	697	c.40T>G	c.(40-42)Tta>Gta	p.L14V	NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	14					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)				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)		AGGATGATTAAACTTGCTACA	0.299																																						ENST00000327305.6	1.000000	0.210000	8.100000e-01	3.500000e-01	0.550000	0.581476	0.550000	1.000000																										0				63						c.(40-42)Tta>Gta		neuropilin (NRP) and tolloid (TLL)-like 1							74.0	70.0	72.0					18																	70532465		2203	4297	6500	SO:0001583	missense	81832	0	0					g.chr18:70532465A>C	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.40T>G	chr18.hg19:g.70532465A>C	ENSP00000313088:p.Leu14Val	0					NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000580049.1_5'UTR	p.L14V	NM_138966.3	NP_620416	0	1	1	1.988234	Q8TDF5	NETO1_HUMAN		2	697	-		Esophageal squamous(42;0.129)	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	0	1	hg19	c.40T>G	CCDS12000.1	0	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299055	0.40694	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.27402	1.88;1.67;1.72	5.77	4.48	0.54585	5.77	4.48	0.54585	.	0.000000	0.43919	D	0.000502	T	0.18923	0.0454	N	0.24115	0.695	0.41532	D	0.988462	B;B;B	0.26147	0.143;0.062;0.017	B;B;B	0.25506	0.061;0.056;0.01	T	0.08513	-1.0718	10	0.72032	D	0.01	-0.6025	5.8898	0.18904	0.7757:0.0:0.2243:0.0	.	13;13;14	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	V	14;13;13	ENSP00000313088:L14V;ENSP00000299430:L13V;ENSP00000381024:L13V	ENSP00000299430:L13V	L	-	1	2	2	NETO1	68683445	68683445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	2.340000	0.79590	0.528000	0.53228	TTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	0	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-8.693337	1	0.170000	NM_138999			5	4		107	106	0		1			0	0	35	0		9.360223e-01	0	0	0	0	0	0	5	107
FBXO15	201456	broad.mit.edu	37	18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000419743.2	-	5	668	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	197						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTGCCCAACCTAAACCAAAT	0.308																																						ENST00000419743.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				27						c.(589-591)Ggt>Tgt		F-box protein 15							54.0	57.0	56.0					18																	71796836		2203	4299	6502	SO:0001583	missense	201456	0	0					g.chr18:71796836C>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.589G>T	chr18.hg19:g.71796836C>A	ENSP00000393154:p.Gly197Cys	0					FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	p.G197C	NM_001142958.1	NP_001136430.1	0	1	1	1.988234	Q8NCQ5	FBX15_HUMAN		5	668	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	1	1	hg19	c.589G>T	CCDS45884.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396078	0.62177	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.9;0.88	5.85	2.69	0.31865	5.85	2.69	0.31865	.	0.424638	0.28016	N	0.016924	T	0.48447	0.1500	L	0.57536	1.79	0.26728	N	0.970651	D;D	0.69078	0.997;0.993	P;P	0.57283	0.817;0.628	T	0.37549	-0.9701	10	0.72032	D	0.01	-15.6153	5.641	0.17565	0.0:0.5174:0.0:0.4826	.	197;121	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	121;197	ENSP00000269500:G121C;ENSP00000393154:G197C	ENSP00000269500:G121C	G	-	1	0	0	FBXO15	69947816	69947816	0.140000	0.22579	0.974000	0.42286	0.931000	0.56810	0.702000	0.25631	0.799000	0.34018	0.655000	0.94253	GGT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-3.420585	1	0.170000	NM_152676			33	32		156	154	1		1	0		0	0	29	0		1	8.524384e-02	0	1	0	2	0	33	156
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	rs370451342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0					ENST00000383467.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(136-138)Cgg>Tgg		leucine rich repeat containing 30		C	TRP/ARG	1,3965		0,1,1982	71.0	75.0	73.0		136	5.7	1.0	18		73	0,8322		0,0,4161	no	missense	LRRC30	NM_001105581.1	101	0,1,6143	TT,TC,CC		0.0,0.0252,0.0081	probably-damaging	46/302	7231272	1,12287	1983	4161	6144	SO:0001583	missense	339291	9	120882	40				g.chr18:7231272C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.136C>T	chr18.hg19:g.7231272C>T	ENSP00000372959:p.Arg46Trp	0						p.R46W	NM_001105581.1	NP_001099051.1	0	1	1	1.988234	A6NM36	LRC30_HUMAN		1	150	+				Missense_Mutation	SNP	ENST00000383467.2	1	1	hg19	c.136C>T	CCDS42409.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	2	LRRC30	7221272	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.910294	1	0.170000	XM_292678			93	91		403	395	1		1			0	0	95	0		1	0	0	0	0	0	0	93	403
CNDP2	55748	broad.mit.edu	37	18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	464					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|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)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGATGCTGGCCGCGTACCT	0.547																																						ENST00000324262.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				24						c.(1390-1392)Gcc>Acc		CNDP dipeptidase 2 (metallopeptidase M20 family)							119.0	94.0	102.0					18																	72187265		2203	4300	6503	SO:0001583	missense	55748	0	0					g.chr18:72187265G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1390G>A	chr18.hg19:g.72187265G>A	ENSP00000325548:p.Ala464Thr	0					CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T	p.A464T	NM_018235.2	NP_060705.2	0	1	1	1.988234	Q96KP4	CNDP2_HUMAN		12	1706	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	1	1	hg19	c.1390G>A	CCDS12006.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722165	0.68959	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09723	2.95;2.95	5.44	4.56	0.56223	5.44	4.56	0.56223	.	0.147326	0.64402	D	0.000010	T	0.20047	0.0482	M	0.78801	2.425	0.38235	D	0.941156	P;P	0.38195	0.513;0.622	B;B	0.43251	0.291;0.413	T	0.02942	-1.1091	10	0.72032	D	0.01	-9.0077	11.9072	0.52719	0.0801:0.0:0.9199:0.0	.	380;464	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	464;380	ENSP00000325548:A464T;ENSP00000325756:A380T	ENSP00000325548:A464T	A	+	1	0	0	CNDP2	70338245	70338245	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.178000	0.65037	2.548000	0.85928	0.650000	0.86243	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_018235			31	31		153	147	1		1	1		0	0	57	0		1	1	0	210	0	583	0	31	153
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000582337.1_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																																						ENST00000299687.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S57S(1)	large_intestine(1)	67						c.(169-171)tcG>tcA		zinc finger protein 407							91.0	89.0	90.0					18																	72343146		1841	4084	5925	SO:0001819	synonymous_variant	55628	0	0					g.chr18:72343146G>A	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	chr18.hg19:g.72343146G>A		0					ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S	p.S57S	NM_017757.2	NP_060227.2	0	1	1	1.988234	Q9C0G0	ZN407_HUMAN		1	171	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	1	1	hg19	c.171G>A	CCDS45885.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_017757			74	71		305	298	1		1	0		0	0	76	0		1	2.557960e-01	0	0	0	5	0	74	305
ZNF407	55628	broad.mit.edu	37	18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		AGAAACCATGTGAAAAGGCAC	0.423																																						ENST00000299687.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(4756-4758)gTg>gCg		zinc finger protein 407							204.0	199.0	201.0					18																	72353033		2000	4181	6181	SO:0001583	missense	55628	0	0					g.chr18:72353033T>C	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.4757T>C	chr18.hg19:g.72353033T>C	ENSP00000299687:p.Val1586Ala	0					ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A	p.V1586A	NM_017757.2	NP_060227.2	0	1	1	1.988234	Q9C0G0	ZN407_HUMAN		2	4757	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	1	1	hg19	c.4757T>C	CCDS45885.1	1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734815	0.69189	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.60672	0.17;2.42	5.1	5.1	0.69264	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.68016	0.2955	L	0.42744	1.35	0.36137	D	0.846519	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.67019	-0.5776	10	0.22109	T	0.4	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	1586;1586;1586	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1586	ENSP00000299687:V1586A;ENSP00000310359:V1586A	ENSP00000299687:V1586A	V	+	2	0	0	ZNF407	70482021	70482021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	0.240000	0.21263	0.655000	0.94253	GTG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-20.000000	1	0.170000	NM_017757			140	138		526	520	1		1	1		0	0	160	0		1	9.774739e-01	0	7	0	18	0	140	526
ZNF407	55628	broad.mit.edu	37	18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		TTCACCGCGGCGGCCTTGGCA	0.617																																						ENST00000299687.5	0.410000	0.180000	3.500000e-01	2.300000e-01	0.280000	0.294030	0.280000	0.290000																										0				67						c.(5509-5511)gCg>gTg		zinc finger protein 407							88.0	103.0	98.0					18																	72775187		2067	4199	6266	SO:0001583	missense	55628	0	0					g.chr18:72775187C>T	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.5510C>T	chr18.hg19:g.72775187C>T	ENSP00000299687:p.Ala1837Val	0						p.A1837V	NM_017757.2	NP_060227.2	0	1	1	1.988234	Q9C0G0	ZN407_HUMAN		8	5510	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	1	1	hg19	c.5510C>T	CCDS45885.1	0	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986701	0.35036	.	.	ENSG00000215421	ENST00000299687	T	0.11930	2.73	4.97	3.19	0.36642	4.97	3.19	0.36642	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	0.999998	P	0.50710	0.938	B	0.33890	0.172	T	0.36696	-0.9737	9	0.05721	T	0.95	.	9.8525	0.41066	0.0:0.8462:0.0:0.1538	.	1837	Q9C0G0	ZN407_HUMAN	V	1837	ENSP00000299687:A1837V	ENSP00000299687:A1837V	A	+	2	0	0	ZNF407	70904175	70904175	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.516000	0.67055	-0.759000	0.04684	-2.034000	0.00421	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	0	1		2	2	2	0		0	0	181		181	179	1	2.060000	-2.508582	1	0.170000	NM_017757			24	24		965	956	0		1	0		0	0	181	0		9.999996e-01	9.903186e-02	0	1	0	20	0	24	965
ZNF407	55628	broad.mit.edu	37	18	72775296	72775296	+	Silent	SNP	C	C	T	rs187401042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		AGGGCTACGACGGGGAGTTTG	0.687													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14592	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(5617-5619)gaC>gaT		zinc finger protein 407							27.0	37.0	34.0					18																	72775296		2058	4187	6245	SO:0001819	synonymous_variant	55628	6	120902	35				g.chr18:72775296C>T	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.5619C>T	chr18.hg19:g.72775296C>T		0						p.D1873D	NM_017757.2	NP_060227.2	0	1	1	1.988234	Q9C0G0	ZN407_HUMAN		8	5619	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	1	1	hg19	c.5619C>T	CCDS45885.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	0		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_017757			65	65		210	205	0		1	1		0	0	49	0		1	6.664824e-01	0	2	0	7	0	65	210
ZNF407	55628	broad.mit.edu	37	18	72775354	72775354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1893					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		GCTGCAGACGCTGGCCATGGC	0.682																																						ENST00000299687.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.992830	0.990000	1.000000																										0				67						c.(5677-5679)Ctg>Ttg		zinc finger protein 407							10.0	14.0	12.0					18																	72775354		2077	4188	6265	SO:0001819	synonymous_variant	55628	0	0					g.chr18:72775354C>T	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.5677C>T	chr18.hg19:g.72775354C>T		0						p.L1893L	NM_017757.2	NP_060227.2	0	1	1	1.988234	Q9C0G0	ZN407_HUMAN		8	5677	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	0	1	hg19	c.5677C>T	CCDS45885.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_017757			17	17		121	115	1		1	1		0	0	22	0		9.999646e-01	3.249755e-01	0	4	0	5	0	17	121
ZADH2	284273	broad.mit.edu	37	18	72913911	72913911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000322342.3	-	2	883	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_ENST00000537114.2_Silent_p.C75C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	198						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			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)		CAATTACATGGCACTTTGCCT	0.478																																						ENST00000322342.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.994382	0.990000	1.000000																										0				15						c.(592-594)tgC>tgT		zinc binding alcohol dehydrogenase domain containing 2							160.0	170.0	167.0					18																	72913911		2203	4300	6503	SO:0001819	synonymous_variant	284273	0	0					g.chr18:72913911G>A	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.594C>T	chr18.hg19:g.72913911G>A		0					ZADH2_ENST00000537114.2_Silent_p.C75C	p.C198C	NM_175907.4	NP_787103.1	0	1	1	1.988234	Q8N4Q0	ZADH2_HUMAN		2	883	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	1	1	hg19	c.594C>T	CCDS12008.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	1	0	1		2	2	2	0		0	0	309		309	308	1	2.060000	-20.000000	1	0.170000	NM_175907			136	132		1318	1301	1		1	1		0	0	309	0		1	9.943585e-01	0	9	0	67	0	136	1318
TSHZ1	10194	broad.mit.edu	37	18	72997452	72997452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72997452C>T	ENST00000580243.1	+	2	438	c.90C>T	c.(88-90)caC>caT	p.H30H	TSHZ1_ENST00000322038.5_5'UTR			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	30					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)			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)		ATGAAGAGCACGTGGAGGATG	0.448																																						ENST00000580243.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999397	0.990000	1.000000																										0				42						c.(88-90)caC>caT		teashirt zinc finger homeobox 1							22.0	23.0	22.0					18																	72997452		2183	4248	6431	SO:0001819	synonymous_variant	10194	1	120376	26				g.chr18:72997452C>T	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.90C>T	chr18.hg19:g.72997452C>T		0					TSHZ1_ENST00000322038.5_5'UTR	p.H30H			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	438	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	1	1	hg19	c.90C>T		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005786			20	20		110	108	1		1	1		0	0	28	0		9.999968e-01	9.537529e-01	0	7	0	24	0	20	110
TSHZ1	10194	broad.mit.edu	37	18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000580243.1	+	2	1511	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P343L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	388					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)			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)		GCAGCGAACCCGTACGTCACG	0.622																																						ENST00000580243.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42						c.(1162-1164)cCg>cTg		teashirt zinc finger homeobox 1							104.0	109.0	108.0					18																	72998525		2203	4300	6503	SO:0001583	missense	10194	3	121412	35				g.chr18:72998525C>T	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.1163C>T	chr18.hg19:g.72998525C>T	ENSP00000464391:p.Pro388Leu	0					TSHZ1_ENST00000322038.5_Missense_Mutation_p.P343L	p.P388L			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	1511	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	1	1	hg19	c.1163C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290455	0.23478	.	.	ENSG00000179981	ENST00000322038	T	0.11604	2.76	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.35593	1.075	0.42428	D	0.992664	D	0.89917	1.0	D	0.64506	0.926	T	0.13899	-1.0492	10	0.02654	T	1	-26.8549	18.8997	0.92437	0.0:1.0:0.0:0.0	.	388	Q6ZSZ6	TSH1_HUMAN	L	343	ENSP00000323584:P343L	ENSP00000323584:P343L	P	+	2	0	0	TSHZ1	71127513	71127513	1.000000	0.71417	0.903000	0.35520	0.304000	0.27724	7.343000	0.79319	-1.153000	0.02829	-1.134000	0.01955	CCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-2.529046	1	0.170000	NM_005786			54	54		298	297	1		1	1		0	0	73	0		1	9.991884e-01	0	11	0	50	0	54	298
TSHZ1	10194	broad.mit.edu	37	18	72998659	72998659	+	Missense_Mutation	SNP	G	G	A	rs373817259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998659G>A	ENST00000580243.1	+	2	1645	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A388T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	433					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)			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)		GCAGCTCACCGCCCACATGAT	0.597																																						ENST00000580243.1	0.570000	0.130000	4.400000e-01	2.100000e-01	0.310000	0.332191	0.310000	0.290000																										0				42						c.(1297-1299)Gcc>Acc		teashirt zinc finger homeobox 1		G	THR/ALA	0,4406		0,0,2203	52.0	50.0	51.0		1162	4.4	1.0	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHZ1	NM_005786.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	388/1033	72998659	1,13005	2203	4300	6503	SO:0001583	missense	10194	1	121412	31				g.chr18:72998659G>A	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.1297G>A	chr18.hg19:g.72998659G>A	ENSP00000464391:p.Ala433Thr	0					TSHZ1_ENST00000322038.5_Missense_Mutation_p.A388T	p.A433T			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	1645	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	0	1	hg19	c.1297G>A		0	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926152	0.34002	0.0	1.16E-4	ENSG00000179981	ENST00000322038	T	0.28069	1.63	5.27	4.38	0.52667	5.27	4.38	0.52667	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.02539	-0.55	0.52099	D	0.999949	P	0.40731	0.728	B	0.35073	0.195	T	0.18935	-1.0321	10	0.10111	T	0.7	-25.0106	9.3694	0.38246	0.0752:0.1457:0.7791:0.0	.	433	Q6ZSZ6	TSH1_HUMAN	T	388	ENSP00000323584:A388T	ENSP00000323584:A388T	A	+	1	0	0	TSHZ1	71127647	71127647	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.389000	0.97243	2.452000	0.82932	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-7.853657	1	0.170000	NM_005786			7	7		268	263	0		1	0		0	0	46	0		9.796839e-01	4.026651e-01	0	0	0	49	0	7	268
TSHZ1	10194	broad.mit.edu	37	18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000580243.1	+	2	2100	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Q539H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	584					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)			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)		CAGCCTACCAGCTCCCGGGCA	0.637																																						ENST00000580243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1750-1752)caG>caT		teashirt zinc finger homeobox 1							34.0	36.0	35.0					18																	72999114		2203	4300	6503	SO:0001583	missense	10194	0	0					g.chr18:72999114G>T	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.1752G>T	chr18.hg19:g.72999114G>T	ENSP00000464391:p.Gln584His	0					TSHZ1_ENST00000322038.5_Missense_Mutation_p.Q539H	p.Q584H			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	2100	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	1	1	hg19	c.1752G>T		1	.	.	.	.	.	.	.	.	.	.	G	5.717	0.316735	0.10845	.	.	ENSG00000179981	ENST00000322038	T	0.46063	0.88	5.42	4.55	0.56014	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.83483	2.645	0.41441	D	0.987929	D	0.71674	0.998	D	0.79784	0.993	T	0.68383	-0.5423	10	0.87932	D	0	-33.2648	11.2543	0.49045	0.1473:0.0:0.8527:0.0	.	584	Q6ZSZ6	TSH1_HUMAN	H	539	ENSP00000323584:Q539H	ENSP00000323584:Q539H	Q	+	3	2	2	TSHZ1	71128102	71128102	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.607000	0.61133	0.665000	0.31066	-0.291000	0.09656	CAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_005786			60	59		340	336	1		1	1		0	0	60	0		1	9.996191e-01	0	12	0	56	0	60	340
TSHZ1	10194	broad.mit.edu	37	18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999452C>T	ENST00000580243.1	+	2	2438	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A652V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	697					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)			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)		GGCCCTGAGGCCGAGACTGGG	0.557																																						ENST00000580243.1	0.570000	0.130000	4.400000e-01	2.100000e-01	0.310000	0.331018	0.310000	0.290000																										0				42						c.(2089-2091)gCc>gTc		teashirt zinc finger homeobox 1							89.0	81.0	84.0					18																	72999452		2203	4300	6503	SO:0001583	missense	10194	0	0					g.chr18:72999452C>T	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.2090C>T	chr18.hg19:g.72999452C>T	ENSP00000464391:p.Ala697Val	0					TSHZ1_ENST00000322038.5_Missense_Mutation_p.A652V	p.A697V			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	2438	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	0	1	hg19	c.2090C>T		0	.	.	.	.	.	.	.	.	.	.	C	0.444	-0.896895	0.02472	.	.	ENSG00000179981	ENST00000322038	T	0.37752	1.18	5.12	2.31	0.28768	5.12	2.31	0.28768	.	1.288840	0.04943	N	0.458924	T	0.27454	0.0674	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55945	-0.8060	10	0.41790	T	0.15	-3.9715	10.0651	0.42299	0.0:0.7777:0.0:0.2223	.	697	Q6ZSZ6	TSH1_HUMAN	V	652	ENSP00000323584:A652V	ENSP00000323584:A652V	A	+	2	0	0	TSHZ1	71128440	71128440	0.012000	0.17670	0.000000	0.03702	0.064000	0.16182	1.052000	0.30429	-4.679000	0.00036	-1.982000	0.00454	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-8.031873	1	0.170000	NM_005786			7	7		269	263	0		1	1		0	0	65	0		9.794134e-01	6.703356e-01	0	2	0	84	0	7	269
TSHZ1	10194	broad.mit.edu	37	18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000580243.1	+	2	2785	c.2437A>G	c.(2437-2439)Acc>Gcc	p.T813A	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T768A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	813					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)			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)		CATTGACTTAACCAAGTCCAA	0.567																																						ENST00000580243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2437-2439)Acc>Gcc		teashirt zinc finger homeobox 1							53.0	55.0	55.0					18																	72999799		2203	4300	6503	SO:0001583	missense	10194	0	0					g.chr18:72999799A>G	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.2437A>G	chr18.hg19:g.72999799A>G	ENSP00000464391:p.Thr813Ala	0					TSHZ1_ENST00000322038.5_Missense_Mutation_p.T768A	p.T813A			0	1	1	1.988234	Q6ZSZ6	TSH1_HUMAN		2	2785	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	1	1	hg19	c.2437A>G		1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626961	0.28978	.	.	ENSG00000179981	ENST00000322038	T	0.53423	0.62	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.052129	0.85682	D	0.000000	T	0.52092	0.1713	M	0.80422	2.495	0.46222	D	0.99893	P	0.43287	0.802	B	0.38616	0.277	T	0.63189	-0.6693	10	0.87932	D	0	-49.2603	15.1778	0.72927	1.0:0.0:0.0:0.0	.	813	Q6ZSZ6	TSH1_HUMAN	A	768	ENSP00000323584:T768A	ENSP00000323584:T768A	T	+	1	0	0	TSHZ1	71128787	71128787	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.817000	0.91985	2.466000	0.83321	0.561000	0.74099	ACC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_005786			68	68		339	332	1		1	1		0	0	81	0		1	9.999599e-01	0	13	0	63	0	68	339
ZNF516	9658	broad.mit.edu	37	18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1033					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGGCGCCCCAGCCACGCCGGG	0.682																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3097-3099)gCt>gAt		zinc finger protein 516							29.0	34.0	33.0					18																	74090972		1906	4091	5997	SO:0001583	missense	9658	0	0					g.chr18:74090972G>T	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.3098C>A	chr18.hg19:g.74090972G>T	ENSP00000394757:p.Ala1033Asp	0					ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	p.A1033D	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		4	3415	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Missense_Mutation	SNP	ENST00000443185.2	1	1	hg19	c.3098C>A		1	.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250111	0.05867	.	.	ENSG00000101493	ENST00000443185	T	0.10573	2.86	2.24	1.29	0.21616	2.24	1.29	0.21616	.	0.919558	0.09263	N	0.826312	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.39663	-0.9603	8	0.87932	D	0	.	5.3938	0.16259	0.128:0.2057:0.6663:0.0	.	.	.	.	D	1033	ENSP00000394757:A1033D	ENSP00000394757:A1033D	A	-	2	0	0	ZNF516	72219960	72219960	0.000000	0.05858	0.004000	0.12327	0.102000	0.19082	0.294000	0.19047	0.226000	0.20979	0.486000	0.48141	GCT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_014643			61	60		338	329	0		1	1		0	0	53	0		1	4.154258e-01	0	4	0	5	0	61	338
ZNF516	9658	broad.mit.edu	37	18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TTGCTATTGGCCGAGGGCTGC	0.677																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2833-2835)Gcc>Acc		zinc finger protein 516							20.0	25.0	23.0					18																	74091237		1775	3912	5687	SO:0001583	missense	9658	0	0					g.chr18:74091237C>T	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.2833G>A	chr18.hg19:g.74091237C>T	ENSP00000394757:p.Ala945Thr	0					ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	p.A945T	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		4	3150	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Missense_Mutation	SNP	ENST00000443185.2	1	1	hg19	c.2833G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191499	0.01607	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	4.13	2.34	0.29019	4.13	2.34	0.29019	.	1.899140	0.02400	N	0.080617	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35375	-0.9791	9	0.11485	T	0.65	.	3.2019	0.06652	0.1866:0.502:0.0:0.3114	.	945	Q92618	ZN516_HUMAN	T	945	ENSP00000394757:A945T	ENSP00000394757:A945T	A	-	1	0	0	ZNF516	72220225	72220225	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.520000	0.28426	0.491000	0.48974	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.331871	1	0.170000	NM_014643			58	58		304	299	0		1	1		0	0	44	0		1	8.072605e-01	0	4	0	14	0	58	304
ZNF516	9658	broad.mit.edu	37	18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CCGCGTCGACCTCGCACTTAA	0.592																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				32						c.(2212-2214)aGg>aAg		zinc finger protein 516							50.0	54.0	52.0					18																	74091857		2017	4172	6189	SO:0001583	missense	9658	0	0					g.chr18:74091857C>T	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.2213G>A	chr18.hg19:g.74091857C>T	ENSP00000394757:p.Arg738Lys	0					ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	p.R738K	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		4	2530	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Missense_Mutation	SNP	ENST00000443185.2	1	1	hg19	c.2213G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922902	0.02377	.	.	ENSG00000101493	ENST00000443185	T	0.09073	3.02	4.55	0.168	0.15012	4.55	0.168	0.15012	.	0.745817	0.12140	N	0.495931	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	9	0.02654	T	1	-16.5927	2.3624	0.04310	0.4105:0.3026:0.0:0.2869	.	738	Q92618	ZN516_HUMAN	K	738	ENSP00000394757:R738K	ENSP00000394757:R738K	R	-	2	0	0	ZNF516	72220845	72220845	0.817000	0.29147	0.010000	0.14722	0.004000	0.04260	1.027000	0.30115	0.122000	0.18314	0.655000	0.94253	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	40	1	2.060000	-20.000000	1	0.170000	NM_014643			34	34		179	178	1		1	1		0	0	44	0		1	9.932855e-01	0	6	0	38	0	34	179
ZNF516	9658	broad.mit.edu	37	18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	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)			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)		ATGATAGGTGCGGAAGATCTT	0.716																																						ENST00000443185.2	1.000000	0.800000	1	9.900000e-01	0.990000	0.987366	0.990000	1.000000																										0				32						c.(1573-1575)cGc>cAc		zinc finger protein 516							8.0	9.0	9.0					18																	74153437		2057	4158	6215	SO:0001583	missense	9658	1	119124	30				g.chr18:74153437C>T	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.1574G>A	chr18.hg19:g.74153437C>T	ENSP00000394757:p.Arg525His	0					ZNF516_ENST00000524431.2_5'UTR	p.R525H	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		3	1891	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Missense_Mutation	SNP	ENST00000443185.2	0	1	hg19	c.1574G>A		1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645577	0.87859	.	.	ENSG00000101493	ENST00000443185	T	0.29142	1.58	5.21	4.3	0.51218	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	.	.	.	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.65721	-0.6099	9	0.72032	D	0.01	-61.0823	15.6856	0.77409	0.0:0.8623:0.1376:0.0	.	525	Q92618	ZN516_HUMAN	H	525	ENSP00000394757:R525H	ENSP00000394757:R525H	R	-	2	0	0	ZNF516	72282425	72282425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	1.253000	0.44018	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-17.851740	1	0.170000	NM_014643			10	10		64	63	0		1			0	0	16	0		9.973693e-01	0	0	0	0	0	0	10	64
ZNF516	9658	broad.mit.edu	37	18	74154150	74154150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGAACCAGGGCTCCTTGAACC	0.622																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999845	0.990000	1.000000																										0				32						c.(859-861)gaG>gaA		zinc finger protein 516							44.0	52.0	49.0					18																	74154150		2156	4255	6411	SO:0001819	synonymous_variant	9658	0	0					g.chr18:74154150C>T	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.861G>A	chr18.hg19:g.74154150C>T		0					ZNF516_ENST00000524431.2_5'UTR	p.E287E	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		3	1178	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Silent	SNP	ENST00000443185.2	1	1	hg19	c.861G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_014643			40	39		261	256	1		1	0		0	0	56	0		1	4.939255e-01	0	1	0	11	0	40	261
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGCCCCTGCGCGGTGATGTGG	0.697																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(676-678)Gcg>Acg		zinc finger protein 516							18.0	20.0	19.0					18																	74154335		2129	4244	6373	SO:0001583	missense	9658	0	0					g.chr18:74154335C>T	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.676G>A	chr18.hg19:g.74154335C>T	ENSP00000394757:p.Ala226Thr	0					ZNF516_ENST00000524431.2_5'UTR	p.A226T	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		3	993	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Missense_Mutation	SNP	ENST00000443185.2	1	1	hg19	c.676G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860693	0.51482	.	.	ENSG00000101493	ENST00000443185	T	0.11169	2.8	4.4	4.4	0.53042	4.4	4.4	0.53042	.	0.073018	0.53938	D	0.000045	T	0.07279	0.0184	.	.	.	0.28717	N	0.903243	B	0.31968	0.349	B	0.21546	0.035	T	0.16335	-1.0406	9	0.33141	T	0.24	-2.0811	12.0526	0.53515	0.0:0.9159:0.0:0.0841	.	226	Q92618	ZN516_HUMAN	T	226	ENSP00000394757:A226T	ENSP00000394757:A226T	A	-	1	0	0	ZNF516	72283323	72283323	0.998000	0.40836	0.673000	0.29887	0.881000	0.50899	3.696000	0.54757	2.443000	0.82685	0.563000	0.77884	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_014643			51	49		154	154	1		1	1		0	0	30	0		1	9.554746e-01	0	3	0	15	0	51	154
ZNF516	9658	broad.mit.edu	37	18	74154528	74154528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	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)			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)		ATGCGGACCCCTCTGCCCCCT	0.697																																						ENST00000443185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(481-483)gaG>gaA		zinc finger protein 516							10.0	13.0	12.0					18																	74154528		1928	4066	5994	SO:0001819	synonymous_variant	9658	0	0					g.chr18:74154528C>T	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.483G>A	chr18.hg19:g.74154528C>T		0					ZNF516_ENST00000524431.2_5'UTR	p.E161E	NM_014643.3	NP_055458.1	0	1	1	1.988234	Q92618	ZN516_HUMAN		3	800	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		Silent	SNP	ENST00000443185.2	1	1	hg19	c.483G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_014643			35	34		114	112	0		1	0		0	0	20	0		1	5.977691e-01	0	1	0	7	0	35	114
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					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)			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)		GAGGGATCACGAGCGAAATGA	0.358																																						ENST00000253159.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(178-180)Gag>Aag		zinc finger protein 236							65.0	62.0	63.0					18																	74561610		1875	4104	5979	SO:0001583	missense	7776	0	0					g.chr18:74561610G>A	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.178G>A	chr18.hg19:g.74561610G>A	ENSP00000253159:p.Glu60Lys	0					ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	p.E60K	NM_007345.3	NP_031371.3	0	1	1	1.988234	Q9UL36	ZN236_HUMAN		2	376	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	1	1	hg19	c.178G>A	CCDS42447.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	0	ZNF236	72690598	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.345759	1	0.170000				42	42		164	162	1		1	1		0	0	53	0		1	6.902586e-01	0	4	0	7	0	42	164
ZNF236	7776	broad.mit.edu	37	18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	799					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)			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)		ATGCAGGTGGAGATCGAGAGC	0.622																																						ENST00000253159.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(2395-2397)gAg>gCg		zinc finger protein 236							66.0	75.0	72.0					18																	74620380		2099	4216	6315	SO:0001583	missense	7776	0	0					g.chr18:74620380A>C	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.2396A>C	chr18.hg19:g.74620380A>C	ENSP00000253159:p.Glu799Ala	0					ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	p.E799A	NM_007345.3	NP_031371.3	0	1	1	1.988234	Q9UL36	ZN236_HUMAN		14	2594	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	1	1	hg19	c.2396A>C	CCDS42447.1	1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292833	0.23564	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.94	5.23	4.07	0.47477	5.23	4.07	0.47477	.	0.263343	0.35495	N	0.003164	T	0.12987	0.0315	M	0.65975	2.015	0.36641	D	0.876866	B	0.24483	0.104	B	0.19148	0.024	T	0.06110	-1.0845	10	0.33940	T	0.23	.	10.9976	0.47585	0.9261:0.0:0.0739:0.0	.	799	Q9UL36	ZN236_HUMAN	A	799	ENSP00000253159:E799A;ENSP00000444524:E799A	ENSP00000253159:E799A	E	+	2	0	0	ZNF236	72749368	72749368	1.000000	0.71417	0.353000	0.25747	0.228000	0.25075	4.800000	0.62524	0.941000	0.37499	0.460000	0.39030	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000				115	114		553	544	1		1	1		0	0	131	0		1	5.900762e-01	0	5	0	6	0	115	553
ZNF236	7776	broad.mit.edu	37	18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1586					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)			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)		GACACTGTCACACTCAACATC	0.512																																						ENST00000253159.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				94						c.(4756-4758)aCa>aTa		zinc finger protein 236							57.0	57.0	57.0					18																	74649280		2081	4214	6295	SO:0001583	missense	7776	0	0					g.chr18:74649280C>T	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.4757C>T	chr18.hg19:g.74649280C>T	ENSP00000253159:p.Thr1586Ile	0					ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	p.T1586I	NM_007345.3	NP_031371.3	0	1	1	1.988234	Q9UL36	ZN236_HUMAN		26	4955	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	1	1	hg19	c.4757C>T	CCDS42447.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494537	0.44352	.	.	ENSG00000130856	ENST00000253159	T	0.10960	2.82	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.34972	D	0.753266	D	0.76494	0.999	D	0.63488	0.915	T	0.02378	-1.1168	10	0.46703	T	0.11	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1586	Q9UL36	ZN236_HUMAN	I	1586	ENSP00000253159:T1586I	ENSP00000253159:T1586I	T	+	2	0	0	ZNF236	72778268	72778268	1.000000	0.71417	0.337000	0.25536	0.961000	0.63080	6.460000	0.73518	2.752000	0.94435	0.557000	0.71058	ACA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				29	28		124	122	0		1	1		0	0	25	0		1	6.959466e-01	0	3	0	9	0	29	124
MBP	4155	broad.mit.edu	37	18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000397869.3	-	3	332	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_Missense_Mutation_p.T122A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000355994.2_Missense_Mutation_p.T229A			P13727	PRG2_HUMAN	myelin basic protein	0					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GTGCGAGGCGTCACCTGGAAA	0.537																																					NSCLC(17;72 1131 19392)	ENST00000397869.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(286-288)Acg>Gcg		myelin basic protein	Sargramostim(DB00020)						108.0	117.0	114.0					18																	74700865		2203	4300	6503	SO:0001583	missense	4155	0	0					g.chr18:74700865T>C		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.286A>G	chr18.hg19:g.74700865T>C	ENSP00000380967:p.Thr96Ala	0					MBP_ENST00000355994.2_Missense_Mutation_p.T229A|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A|MBP_ENST00000528160.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000354542.4_Intron|MBP_ENST00000579129.1_Missense_Mutation_p.T229A	p.T96A			0	1	1	1.988234	P13727	PRG2_HUMAN		3	332	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	1	1	hg19	c.286A>G		1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604648	0.66445	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	3.1	0.35709	4.34	3.1	0.35709	.	0.350057	0.26213	N	0.025670	T	0.53642	0.1809	L	0.40543	1.245	0.32076	N	0.593799	P;D;P;B;B	0.63046	0.804;0.992;0.544;0.199;0.199	P;D;B;B;B	0.76071	0.625;0.987;0.133;0.193;0.193	T	0.60005	-0.7347	9	0.72032	D	0.01	.	6.6358	0.22881	0.2966:0.0:0.0:0.7034	.	96;229;96;122;122	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	A	122;229;106;96;96;122;96;74;96;40	.	ENSP00000348273:T229A	T	-	1	0	0	MBP	72829853	72829853	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.776000	0.47709	1.832000	0.53329	0.482000	0.46254	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	1	0	0		2	2	2	0		0	0	135		135	136	1	2.060000	-20.000000	1	0.170000	NM_001025081			128	127		668	652	1		1	0		0	0	135	0		1	2.504956e-01	0	0	0	6	0	128	668
YES1	7525	broad.mit.edu	37	18	756664	756664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	55					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488																																						ENST00000584307.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(163-165)aGc>aTc		YES proto-oncogene 1, Src family tyrosine kinase	Dasatinib(DB01254)						251.0	208.0	223.0					18																	756664		2203	4300	6503	SO:0001583	missense	7525	0	0					g.chr18:756664C>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.164G>T	chr18.hg19:g.756664C>A	ENSP00000462468:p.Ser55Ile	0					YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000577611.1_5'UTR	p.S55I			1	2	3	2.007506	P07947	YES_HUMAN		2	334	-			A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	1	1	hg19	c.164G>T	CCDS11824.1	1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567998	0.28003	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.74947	-0.89	4.91	-2.04	0.07343	4.91	-2.04	0.07343	.	0.513334	0.22949	N	0.053687	T	0.48040	0.1478	N	0.08118	0	0.24759	N	0.992936	B	0.19445	0.036	B	0.14023	0.01	T	0.41484	-0.9506	10	0.59425	D	0.04	.	7.5341	0.27700	0.0:0.1655:0.1453:0.6892	.	55	P07947	YES_HUMAN	I	55	ENSP00000324740:S55I	ENSP00000324740:S55I	S	-	2	0	0	YES1	746664	746664	0.994000	0.37717	0.590000	0.28732	0.972000	0.66771	0.469000	0.22067	-0.087000	0.12528	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	1	0	1		2	2	2	0		0	0	171		171	169	1	2.060000	-20.000000	1	0.170000	NM_005433			133	131		645	632	1		1	1		0	0	171	0		1	1	0	56	0	118	0	133	645
GALR1	2587	broad.mit.edu	37	18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	146					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)			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)		CTCCTCCTCCCTCAGGGTGTC	0.672																																						ENST00000299727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(436-438)Ctc>Atc		galanin receptor 1							57.0	49.0	52.0					18																	74962940		2203	4299	6502	SO:0001583	missense	2587	0	0					g.chr18:74962940C>A	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.436C>A	chr18.hg19:g.74962940C>A	ENSP00000299727:p.Leu146Ile	0						p.L146I	NM_001480.3	NP_001471.2	0	1	1	1.988234	P47211	GALR1_HUMAN		1	436	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	1	1	hg19	c.436C>A	CCDS12012.1	1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820857	0.16678	.	.	ENSG00000166573	ENST00000299727	T	0.71698	-0.59	4.49	2.58	0.30949	4.49	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.157190	0.42821	N	0.000642	T	0.45796	0.1360	N	0.10916	0.065	0.39673	D	0.970781	B	0.12013	0.005	B	0.12156	0.007	T	0.24404	-1.0161	10	0.26408	T	0.33	.	6.7241	0.23346	0.3058:0.6095:0.0:0.0848	.	146	P47211	GALR1_HUMAN	I	146	ENSP00000299727:L146I	ENSP00000299727:L146I	L	+	1	0	0	GALR1	73091928	73091928	0.774000	0.28592	0.970000	0.41538	0.332000	0.28634	1.084000	0.30828	0.816000	0.34421	0.591000	0.81541	CTC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.431856	1	0.170000				57	54		256	251	1		1			0	0	54	0		1	0	0	0	0	0	0	57	256
SALL3	27164	broad.mit.edu	37	18	76757124	76757124	+	Silent	SNP	C	C	T	rs375447289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000537592.2	+	3	3705	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	SALL3_ENST00000575389.2_Silent_p.N1163N|SALL3_ENST00000536229.3_Silent_p.N1030N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1235					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)			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)		TCATCCAGAACGGCGGCATCC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.0					ENST00000537592.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3703-3705)aaC>aaT		spalt-like transcription factor 3		C		1,4405	2.1+/-5.4	0,1,2202	107.0	99.0	102.0		3705	-6.6	0.3	18		102	0,8600		0,0,4300	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1235/1301	76757124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27164	4	121412	38				g.chr18:76757124C>T	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.3705C>T	chr18.hg19:g.76757124C>T		0					SALL3_ENST00000536229.3_Silent_p.N1030N|SALL3_ENST00000575389.2_Silent_p.N1163N	p.N1235N	NM_171999.3	NP_741996.2	0	1	1	1.988234	Q9BXA9	SALL3_HUMAN		3	3705	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	Q9UGH1	Silent	SNP	ENST00000537592.2	1	1	hg19	c.3705C>T	CCDS12013.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	1	0	1		2	2	2	0		0	0	162		162	156	1	2.060000	-20.000000	1	0.170000	NM_171999			170	167		677	660	1		1			0	0	162	0		1	0	0	0	0	0	0	170	677
ATP9B	374868	broad.mit.edu	37	18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	457					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)			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)		CTATCCCAGAGGAACTTGGGC	0.453																																						ENST00000426216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1369-1371)gaG>gaT		ATPase, class II, type 9B							155.0	142.0	146.0					18																	77037156		2203	4300	6503	SO:0001583	missense	374868	0	0					g.chr18:77037156G>T	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.1371G>T	chr18.hg19:g.77037156G>T	ENSP00000398076:p.Glu457Asp	0					ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	p.E457D	NM_198531.3	NP_940933.3	0	1	1	1.988234	O43861	ATP9B_HUMAN		13	1388	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	1	1	hg19	c.1371G>T	CCDS12014.1	1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850651	0.71719	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94723	-3.5;-3.5	5.4	-1.31	0.09230	5.4	-1.31	0.09230	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.972;0.987	D	0.94917	0.8070	10	0.87932	D	0	.	11.5903	0.50941	0.6405:0.0:0.3595:0.0	.	457;457	O43861;O43861-2	ATP9B_HUMAN;.	D	457	ENSP00000398076:E457D;ENSP00000304500:E457D	ENSP00000304500:E457D	E	+	3	2	2	ATP9B	75138144	75138144	0.711000	0.27906	0.931000	0.37212	0.900000	0.52787	-0.034000	0.12225	-0.207000	0.10187	-0.119000	0.15052	GAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_198531			88	87		437	425	1		1	1		0	0	83	0		1	9.891876e-01	0	6	0	31	0	88	437
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V|ATP9B_ENST00000543761.1_5'Flank	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	662					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)			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)		GCTGACGTGGCCATGTCTCCT	0.468																																						ENST00000426216.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				38						c.(1984-1986)gCc>gTc		ATPase, class II, type 9B							159.0	136.0	144.0					18																	77090061		2203	4300	6503	SO:0001583	missense	374868	0	0					g.chr18:77090061C>T	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.1985C>T	chr18.hg19:g.77090061C>T	ENSP00000398076:p.Ala662Val	0					ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V|ATP9B_ENST00000543761.1_5'Flank	p.A662V	NM_198531.3	NP_940933.3	0	1	1	1.988234	O43861	ATP9B_HUMAN		17	2002	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	1	1	hg19	c.1985C>T	CCDS12014.1	1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262139	0.01445	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.68765	-0.35;-0.35	5.45	3.61	0.41365	5.45	3.61	0.41365	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.106419	0.64402	N	0.000006	T	0.27866	0.0686	N	0.00500	-1.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	10	0.02654	T	1	.	11.2144	0.48817	0.0:0.8474:0.0:0.1526	.	662;662	O43861;O43861-2	ATP9B_HUMAN;.	V	662	ENSP00000398076:A662V;ENSP00000304500:A662V	ENSP00000304500:A662V	A	+	2	0	0	ATP9B	75191049	75191049	0.006000	0.16342	0.387000	0.26183	0.021000	0.10359	0.127000	0.15790	0.621000	0.30232	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.021125	1	0.170000	NM_198531			46	44		269	260	1		1	1		0	0	58	0		1	9.749057e-01	0	7	0	30	0	46	269
ATP9B	374868	broad.mit.edu	37	18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	rs140981029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1044					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)			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)		CACGTGGTGGCCATCTCCTTC	0.597																																						ENST00000426216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3130-3132)gCc>gTc		ATPase, class II, type 9B		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	155.0	118.0	130.0		3131	4.3	1.0	18	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP9B	NM_198531.3	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1044/1148	77133958	3,13003	2203	4300	6503	SO:0001583	missense	374868	19	121412	47				g.chr18:77133958C>T	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.3131C>T	chr18.hg19:g.77133958C>T	ENSP00000398076:p.Ala1044Val	0					ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	p.A1044V	NM_198531.3	NP_940933.3	0	1	1	1.988234	O43861	ATP9B_HUMAN		28	3148	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	1	1	hg19	c.3131C>T	CCDS12014.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044220	0.93685	2.27E-4	2.33E-4	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88975	-2.45;-2.45;-2.45	5.19	4.29	0.51040	5.19	4.29	0.51040	.	0.110918	0.64402	D	0.000011	D	0.94647	0.8274	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.66497	0.928;0.944	D	0.95051	0.8187	10	0.72032	D	0.01	.	12.8963	0.58101	0.0:0.9185:0.0:0.0815	.	1044;1044	O43861;O43861-2	ATP9B_HUMAN;.	V	1044;1044;365	ENSP00000398076:A1044V;ENSP00000304500:A1044V;ENSP00000442015:A365V	ENSP00000304500:A1044V	A	+	2	0	0	ATP9B	75234946	75234946	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.732000	0.68563	1.116000	0.41820	0.655000	0.94253	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.318794	1	0.170000	NM_198531			77	76		370	359	1		1	1		0	0	90	0		1	9.906771e-01	0	8	0	29	0	77	370
NFATC1	4772	broad.mit.edu	37	18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000427363.2	+	2	521	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	174	Trans-activation domain A (TAD-A).				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)			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)	CTGAGCCCGGCCAGCAGCCTG	0.662																																					GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(520-522)gCc>gTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)						40.0	44.0	43.0					18																	77170796		2203	4299	6502	SO:0001583	missense	4772	0	0					g.chr18:77170796C>T	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.521C>T	chr18.hg19:g.77170796C>T	ENSP00000389377:p.Ala174Val	0					NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron	p.A174V			0	1	1	1.988234	O95644	NFAC1_HUMAN		2	521	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	1	1	hg19	c.521C>T		1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877003	0.91664	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78816	-1.21;-1.21;-1.21	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.057048	0.64402	D	0.000001	D	0.88130	0.6354	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.994;0.997;0.999;0.999;0.999;0.994	P;P;D;D;D;D;P	0.71184	0.856;0.856;0.917;0.972;0.972;0.972;0.856	D	0.90098	0.4182	10	0.72032	D	0.01	-31.3227	17.2844	0.87137	0.0:1.0:0.0:0.0	.	161;161;174;174;174;161;174	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	174;174;174;161;161;138	ENSP00000253506:A174V;ENSP00000442435:A174V;ENSP00000327850:A161V	ENSP00000253506:A174V	A	+	2	0	0	NFATC1	75271784	75271784	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.039000	0.76544	2.293000	0.77203	0.561000	0.74099	GCC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_172390			85	84		352	350	1		1	1		0	0	88	0		1	9.859174e-01	0	6	0	24	0	85	352
NFATC1	4772	broad.mit.edu	37	18	77171307	77171307	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000427363.2	+	2	1032	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	344					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)			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)	AGCAGCCGCCCTCAGTGGCGC	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1030-1032)ccC>ccA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)						28.0	29.0	29.0					18																	77171307		2203	4295	6498	SO:0001819	synonymous_variant	4772	0	0					g.chr18:77171307C>A	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.1032C>A	chr18.hg19:g.77171307C>A		0					NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron	p.P344P			0	1	1	1.988234	O95644	NFAC1_HUMAN		2	1032	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	1	1	hg19	c.1032C>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_172390			54	54		282	279	0		1	0		0	0	57	0		1	4.425770e-01	0	1	0	8	0	54	282
NFATC1	4772	broad.mit.edu	37	18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T	rs199736877		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000427363.2	+	2	1163	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	388					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)			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)	CAGTACCTGGCGGTGCCGCAG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		5682	0.0		0.0	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1162-1164)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)	C	VAL/ALA,VAL/ALA,,VAL/ALA,VAL/ALA	0,4378		0,0,2189	13.0	15.0	14.0		1163,1124,,1124,1163	4.8	0.7	18		14	1,8539		0,1,4269	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	64,64,,64,64	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,,benign,benign	388/826,375/931,,375/813,388/717	77171438	1,12917	2189	4270	6459	SO:0001583	missense	4772	5	115052	36				g.chr18:77171438C>T	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.1163C>T	chr18.hg19:g.77171438C>T	ENSP00000389377:p.Ala388Val	0					NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron	p.A388V			0	1	1	1.988234	O95644	NFAC1_HUMAN		2	1163	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	1	1	hg19	c.1163C>T		1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.93	1.489050	0.26686	0.0	1.17E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14640	2.89;2.49;2.72	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.320352	0.33364	N	0.004996	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.39782	0.688;0.688;0.688;0.477;0.477;0.624;0.688	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.05;0.08;0.08;0.067;0.05	T	0.33240	-0.9876	10	0.08179	T	0.78	-15.3254	18.0734	0.89419	0.0:1.0:0.0:0.0	.	375;375;388;388;388;375;388	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	388;388;388;375;375;352	ENSP00000253506:A388V;ENSP00000442435:A388V;ENSP00000327850:A375V	ENSP00000253506:A388V	A	+	2	0	0	NFATC1	75272426	75272426	1.000000	0.71417	0.716000	0.30569	0.700000	0.40528	4.620000	0.61226	2.497000	0.84241	0.591000	0.81541	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-20.000000	1	0.170000	NM_172390			35	34		121	120	0		1	0		0	0	20	0		1	9.152089e-01	0	1	0	16	0	35	121
NFATC1	4772	broad.mit.edu	37	18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000427363.2	+	3	1358	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	453	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)			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)	GCCGTGAAGGCGTCGGCCGGA	0.632																																					GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1357-1359)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)						53.0	55.0	54.0					18																	77193710		2203	4299	6502	SO:0001583	missense	4772	0	0					g.chr18:77193710C>T	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.1358C>T	chr18.hg19:g.77193710C>T	ENSP00000389377:p.Ala453Val	0					NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR	p.A453V			0	1	1	1.988234	O95644	NFAC1_HUMAN		3	1358	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	1	1	hg19	c.1358C>T		1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925889	0.92319	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.46063	0.88;0.88;0.88;0.91	4.49	4.49	0.54785	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P	0.61003	0.647;0.647;0.73;0.802;0.802;0.882;0.73	T	0.70916	-0.4742	10	0.87932	D	0	-12.6612	17.1628	0.86808	0.0:1.0:0.0:0.0	.	440;440;453;453;453;440;453	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	453;453;453;440;440;417	ENSP00000253506:A453V;ENSP00000442435:A453V;ENSP00000327850:A440V;ENSP00000389377:A440V	ENSP00000253506:A453V	A	+	2	0	0	NFATC1	75294698	75294698	1.000000	0.71417	0.920000	0.36463	0.681000	0.39784	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	GCG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_172390			149	148		468	466	1		1	1		0	0	87	0		1	9.939019e-01	0	6	0	21	0	149	468
NFATC1	4772	broad.mit.edu	37	18	77246678	77246678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000427363.2	+	9	2523	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000329101.4_Silent_p.S828S|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	841	Trans-activation domain B (TAD-B).				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)			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)	TCGAACACTCGCTCTGCCCCA	0.751																																					GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				40						c.(2521-2523)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)						21.0	21.0	21.0					18																	77246678		2180	4277	6457	SO:0001819	synonymous_variant	4772	0	0					g.chr18:77246678G>A	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.2523G>A	chr18.hg19:g.77246678G>A		0					NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000329101.4_Silent_p.S828S|NFATC1_ENST00000545796.1_Silent_p.S369S	p.S841S			0	1	1	1.988234	O95644	NFAC1_HUMAN		9	2523	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	1	1	hg19	c.2523G>A		1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_172390			32	31		148	146	0		1	0		0	0	23	0		1	0	0	0	0	1	0	32	148
NFATC1	4772	broad.mit.edu	37	18	77287542	77287542	+	Nonsense_Mutation	SNP	C	C	T	rs372768753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	ENST00000427363.2	+	10	2797	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R920*|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000590172.1_3'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	933	Trans-activation domain B (TAD-B).				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)			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)	TGAAATAATACGAAATGACCT	0.428																																					GBM(151;1210 2593 28719 45011)	ENST00000427363.2	1.000000	0.700000	1	8.400000e-01	0.990000	0.943940	0.990000	1.000000																										0				40						c.(2797-2799)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	Pseudoephedrine(DB00852)						112.0	114.0	113.0					18																	77287542		2203	4300	6503	SO:0001587	stop_gained	4772	1	121410	35				g.chr18:77287542C>T	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.2797C>T	chr18.hg19:g.77287542C>T	ENSP00000389377:p.Arg933*	0					NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R920*|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*	p.R933*			0	1	1	1.988234	O95644	NFAC1_HUMAN		10	2797	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Nonsense_Mutation	SNP	ENST00000427363.2	0	1	hg19	c.2797C>T		1	.	.	.	.	.	.	.	.	.	.	c	18.98	3.738555	0.69304	.	.	ENSG00000131196	ENST00000318065;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000397794	.	.	.	4.93	1.79	0.24919	4.93	1.79	0.24919	.	0.481200	0.17773	N	0.162505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.8441	5.9129	0.19039	0.2614:0.5513:0.0:0.1874	.	.	.	.	X	933;703;920;461;897	.	ENSP00000316553:R933X	R	+	1	2	2	NFATC1	75388530	75388530	1.000000	0.71417	0.020000	0.16555	0.438000	0.31896	1.806000	0.38892	0.480000	0.27534	0.580000	0.79431	CGA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-10.016120	1	0.170000	NM_172390			30	30		316	309	0		1	0		0	0	54	0		1	2.906546e-01	0	0	0	12	0	30	316
CTDP1	9150	broad.mit.edu	37	18	77513682	77513682	+	Silent	SNP	C	C	T	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	ENST00000299543.7	+	13	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_ENST00000075430.7_3'UTR	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	926					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)			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)		ATGAAGAGGACGCCGCCAGCG	0.627																																						ENST00000299543.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2776-2778)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	50.0		2421,2778,	-6.0	0.0	18	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	807/843,926/962,	77513682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9150	11	121410	41				g.chr18:77513682C>T	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.2778C>T	chr18.hg19:g.77513682C>T		0					CTDP1_ENST00000075430.7_3'UTR	p.D926D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	0	1	1	1.988234	Q9Y5B0	CTDP1_HUMAN		13	2925	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	1	1	hg19	c.2778C>T	CCDS12017.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	0	0	1		19	6	2	1		1	1	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_004715			53	51		195	191	0		1	1		1	0	39	0		9.999949e-01	8.984236e-01	0	13	0	29	0	53	195
KCNG2	26251	broad.mit.edu	37	18	77659147	77659147	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659147C>T	ENST00000316249.3	+	2	732	c.732C>T	c.(730-732)tgC>tgT	p.C244C	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	244					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGAGCAAGTGCGCCTTCCTGC	0.677																																						ENST00000316249.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999351	0.990000	1.000000																										0				18						c.(730-732)tgC>tgT		potassium voltage-gated channel, subfamily G, member 2							50.0	43.0	45.0					18																	77659147		2202	4300	6502	SO:0001819	synonymous_variant	26251	0	0					g.chr18:77659147C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.732C>T	chr18.hg19:g.77659147C>T		0					KCNG2_ENST00000590307.1_3'UTR	p.C244C	NM_012283.1	NP_036415.1	0	1	1	1.988234	Q9UJ96	KCNG2_HUMAN		2	732	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Silent	SNP	ENST00000316249.3	1	1	hg19	c.732C>T	CCDS12019.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_012283			20	20		111	107	0		1			0	0	31	0		9.999963e-01	0	0	0	0	0	0	20	111
KCNG2	26251	broad.mit.edu	37	18	77659170	77659170	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	ENST00000316249.3	+	2	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	252					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCCACTCAACATCATTGAC	0.682																																						ENST00000316249.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(754-756)aAc>aTc		potassium voltage-gated channel, subfamily G, member 2							39.0	37.0	38.0					18																	77659170		2202	4300	6502	SO:0001583	missense	26251	0	0					g.chr18:77659170A>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.755A>T	chr18.hg19:g.77659170A>T	ENSP00000315654:p.Asn252Ile	0					KCNG2_ENST00000590307.1_3'UTR	p.N252I	NM_012283.1	NP_036415.1	0	1	1	1.988234	Q9UJ96	KCNG2_HUMAN		2	755	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Missense_Mutation	SNP	ENST00000316249.3	1	1	hg19	c.755A>T	CCDS12019.1	1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017956	0.54576	.	.	ENSG00000178342	ENST00000316249	D	0.99245	-5.62	3.6	2.4	0.29515	3.6	2.4	0.29515	Ion transport (1);	0.128701	0.50627	U	0.000102	D	0.99524	0.9830	H	0.97214	3.96	0.36120	D	0.845401	D	0.59767	0.986	D	0.68192	0.956	D	0.99433	1.0936	10	0.87932	D	0	.	9.6117	0.39668	0.8154:0.1846:0.0:0.0	.	252	Q9UJ96	KCNG2_HUMAN	I	252	ENSP00000315654:N252I	ENSP00000315654:N252I	N	+	2	0	0	KCNG2	75760158	75760158	1.000000	0.71417	0.475000	0.27278	0.541000	0.35023	6.203000	0.72137	0.446000	0.26666	0.338000	0.21704	AAC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_012283			31	30		123	118	0		1			0	0	26	0		1	0	0	0	0	0	0	31	123
KCNG2	26251	broad.mit.edu	37	18	77659486	77659486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	ENST00000316249.3	+	2	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	357					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCAGCGTGCCCGCCAGCTATT	0.706																																						ENST00000316249.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997305	0.990000	1.000000																										0				18						c.(1069-1071)ccC>ccT		potassium voltage-gated channel, subfamily G, member 2							24.0	25.0	25.0					18																	77659486		2201	4298	6499	SO:0001819	synonymous_variant	26251	5	121040	35				g.chr18:77659486C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1071C>T	chr18.hg19:g.77659486C>T		0					KCNG2_ENST00000590307.1_3'UTR	p.P357P	NM_012283.1	NP_036415.1	0	1	1	1.988234	Q9UJ96	KCNG2_HUMAN		2	1071	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Silent	SNP	ENST00000316249.3	1	1	hg19	c.1071C>T	CCDS12019.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.319302	1	0.170000	NM_012283			27	26		196	191	0		1			0	0	31	0		1	0	0	0	0	0	0	27	196
KCNG2	26251	broad.mit.edu	37	18	77659752	77659752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	ENST00000316249.3	+	2	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	446					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCTCGCAGGGCCCCGACAGC	0.761																																						ENST00000316249.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				18						c.(1336-1338)gGc>gAc		potassium voltage-gated channel, subfamily G, member 2							7.0	9.0	8.0					18																	77659752		2113	4081	6194	SO:0001583	missense	26251	0	0					g.chr18:77659752G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1337G>A	chr18.hg19:g.77659752G>A	ENSP00000315654:p.Gly446Asp	0					KCNG2_ENST00000590307.1_3'UTR	p.G446D	NM_012283.1	NP_036415.1	0	1	1	1.988234	Q9UJ96	KCNG2_HUMAN		2	1337	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Missense_Mutation	SNP	ENST00000316249.3	1	1	hg19	c.1337G>A	CCDS12019.1	1	.	.	.	.	.	.	.	.	.	.	g	5.131	0.209690	0.09757	.	.	ENSG00000178342	ENST00000316249	D	0.97209	-4.29	3.12	-0.94	0.10405	3.12	-0.94	0.10405	.	681.941000	0.00166	N	0.000002	D	0.90373	0.6987	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83394	0.0019	10	0.35671	T	0.21	.	1.1096	0.01701	0.4624:0.1736:0.2081:0.156	.	446	Q9UJ96	KCNG2_HUMAN	D	446	ENSP00000315654:G446D	ENSP00000315654:G446D	G	+	2	0	0	KCNG2	75760740	75760740	0.756000	0.28383	0.000000	0.03702	0.078000	0.17371	0.318000	0.19504	-0.038000	0.13624	0.187000	0.17357	GGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_012283			28	27		107	105	0		1			0	0	15	0		1	0	0	0	0	0	0	28	107
PQLC1	80148	broad.mit.edu	37	18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000397778.2	-	5	766	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	195	PQ-loop 2.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGACTGGTGGCGGTGGTTGCG	0.602																																						ENST00000397778.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(583-585)cGc>cAc		PQ loop repeat containing 1							59.0	57.0	58.0					18																	77679208		2203	4299	6502	SO:0001583	missense	80148	0	0					g.chr18:77679208C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.584G>A	chr18.hg19:g.77679208C>T	ENSP00000380880:p.Arg195His	0					PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H|PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000590381.1_Intron	p.R195H	NM_025078.4	NP_079354.2	0	1	1	1.988234	Q8N2U9	PQLC1_HUMAN		5	766	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	1	1	hg19	c.584G>A	CCDS12020.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533771	0.45073	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98762	-5.12;-5.12;-5.12	5.1	0.718	0.18202	5.1	0.718	0.18202	.	0.270350	0.37577	N	0.002023	D	0.95796	0.8632	L	0.53617	1.68	0.31935	N	0.611672	B;B	0.15473	0.013;0.005	B;B	0.14578	0.011;0.008	D	0.92252	0.5809	10	0.49607	T	0.09	-11.2406	2.861	0.05586	0.2073:0.3046:0.0:0.4881	.	195;177	Q8N2U9;G5E989	PQLC1_HUMAN;.	H	195;112;177	ENSP00000380880:R195H;ENSP00000387221:R112H;ENSP00000350188:R177H	ENSP00000350188:R177H	R	-	2	0	0	PQLC1	75780196	75780196	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.270000	0.33086	0.552000	0.29026	0.655000	0.94253	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	0	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-3.418823	1	0.170000	NM_025078			42	41		195	191	1		1	1		0	0	52	0		1	1	0	37	0	117	0	42	195
ADNP2	22850	broad.mit.edu	37	18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T	rs373960178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1060					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)			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)		ATTTCTTAAAGATTATTTCCA	0.348																																						ENST00000262198.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3178-3180)Gat>Tat		ADNP homeobox 2							44.0	49.0	47.0					18																	77896474		2200	4297	6497	SO:0001583	missense	22850	2	121386	35				g.chr18:77896474G>T	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.3178G>T	chr18.hg19:g.77896474G>T	ENSP00000262198:p.Asp1060Tyr	0						p.D1060Y	NM_014913.3	NP_055728.1	0	1	1	1.988234	Q6IQ32	ADNP2_HUMAN		4	3633	+		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)	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	1	1	hg19	c.3178G>T	CCDS32853.1	1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404616	0.42613	.	.	ENSG00000101544	ENST00000262198	D	0.92199	-2.99	4.75	4.75	0.60458	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.159508	0.43579	D	0.000542	D	0.93719	0.7993	L	0.54323	1.7	0.39665	D	0.970677	D	0.76494	0.999	D	0.69479	0.964	D	0.93066	0.6478	9	.	.	.	-27.2568	11.4188	0.49969	0.0823:0.0:0.9177:0.0	.	1060	Q6IQ32	ADNP2_HUMAN	Y	1060	ENSP00000262198:D1060Y	.	D	+	1	0	0	ADNP2	75997465	75997465	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	3.598000	0.54038	2.482000	0.83794	0.561000	0.74099	GAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	0	0	1		17	5	2	1		1	1	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_014913			51	51		253	251	1		1	1		1	0	63	0		9.999974e-01	9.284562e-01	0	11	0	39	0	51	253
PTPRM	5797	broad.mit.edu	37	18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	154	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)				GGCCTAACTTTTATCAGGTAT	0.348																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(460-462)ttT>ttG		protein tyrosine phosphatase, receptor type, M							64.0	67.0	66.0					18																	7888369		2203	4300	6503	SO:0001583	missense	5797	0	0					g.chr18:7888369T>G	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.462T>G	chr18.hg19:g.7888369T>G	ENSP00000331418:p.Phe154Leu	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L|PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L	p.F154L	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		3	1499	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.462T>G	CCDS11840.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006859	0.74932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	0.947	0.19555	6.07	0.947	0.19555	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.108351	0.64402	D	0.000004	T	0.02494	0.0076	L	0.39633	1.23	0.80722	D	1	P;P	0.45011	0.848;0.848	B;B	0.41036	0.346;0.346	T	0.59742	-0.7397	10	0.46703	T	0.11	.	10.3573	0.43972	0.0:0.333:0.0:0.667	.	154;154	A7MBN1;P28827	.;PTPRM_HUMAN	L	154;154;92	ENSP00000331418:F154L;ENSP00000382933:F154L;ENSP00000382927:F92L	ENSP00000331418:F154L	F	+	3	2	2	PTPRM	7878369	7878369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.280000	0.33202	0.178000	0.19917	0.533000	0.62120	TTT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				69	68		414	407	1		1	1		0	0	74	0		1	9.902353e-01	0	2	0	43	0	69	414
PTPRM	5797	broad.mit.edu	37	18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	211	Ig-like C2-type.				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)			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)				GCCATCGGCAGGACCGTGGCA	0.507																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				90						c.(631-633)aGg>aTg		protein tyrosine phosphatase, receptor type, M							84.0	80.0	81.0					18																	7926650		2203	4300	6503	SO:0001583	missense	5797	0	0					g.chr18:7926650G>T	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.632G>T	chr18.hg19:g.7926650G>T	ENSP00000331418:p.Arg211Met	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M|PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M	p.R211M	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		5	1669	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.632G>T	CCDS11840.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926527	0.52759	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.22743	1.94;1.94;1.94	5.54	5.54	0.83059	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.104379	0.64402	D	0.000006	T	0.20129	0.0484	L	0.47190	1.495	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.37091	0.241;0.241	T	0.01684	-1.1296	10	0.87932	D	0	.	10.9831	0.47506	0.1443:0.0:0.8557:0.0	.	211;211	A7MBN1;P28827	.;PTPRM_HUMAN	M	211;211;149	ENSP00000331418:R211M;ENSP00000382933:R211M;ENSP00000382927:R149M	ENSP00000331418:R211M	R	+	2	0	0	PTPRM	7916650	7916650	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.022000	0.49659	2.602000	0.87976	0.563000	0.77884	AGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.232518	1	0.170000				52	51		280	272	1		1	0		0	0	101	0		1	9.948996e-01	0	0	0	46	0	52	280
PTPRM	5797	broad.mit.edu	37	18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	470	Fibronectin type-III 2. {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)			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)				GGAAGGAAAGCCAAGAACTCA	0.423																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				90						c.(1408-1410)agC>agA		protein tyrosine phosphatase, receptor type, M							94.0	75.0	81.0					18																	8069961		2203	4300	6503	SO:0001583	missense	5797	0	0					g.chr18:8069961C>A	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.1410C>A	chr18.hg19:g.8069961C>A	ENSP00000331418:p.Ser470Arg	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R	p.S470R	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		8	2447	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.1410C>A	CCDS11840.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071031	0.76301	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.52	-5.01	0.02991	5.52	-5.01	0.02991	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.74881	2.28	0.49687	D	0.999814	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.992	T	0.75337	-0.3353	10	0.27785	T	0.31	.	17.3804	0.87403	0.0:0.7317:0.0:0.2683	.	257;470;470	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	R	470;470;408;257	ENSP00000331418:S470R;ENSP00000382933:S470R;ENSP00000382927:S408R;ENSP00000387608:S257R	ENSP00000331418:S470R	S	+	3	2	2	PTPRM	8059961	8059961	0.841000	0.29509	0.733000	0.30861	0.989000	0.77384	0.065000	0.14466	-0.815000	0.04346	-0.302000	0.09304	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				23	20		117	115	1		1	1		0	0	38	0		9.999995e-01	9.999930e-01	0	5	0	102	0	23	117
PTPRM	5797	broad.mit.edu	37	18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T	rs201745703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4. {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)			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)				ACTAAAAAGACGACAGAAATC	0.388																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(1906-1908)aCg>aTg		protein tyrosine phosphatase, receptor type, M							104.0	99.0	100.0					18																	8113534		2203	4300	6503	SO:0001583	missense	5797	0	0					g.chr18:8113534C>T	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.1907C>T	chr18.hg19:g.8113534C>T	ENSP00000331418:p.Thr636Met	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M	p.T636M	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		12	2944	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.1907C>T	CCDS11840.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138704	0.77775	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.48201	1.14;1.14;0.97;0.82	5.84	5.84	0.93424	5.84	5.84	0.93424	Fibronectin, type III (1);	0.158718	0.56097	D	0.000036	T	0.57873	0.2083	L	0.40543	1.245	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.776;0.776	P;B;B	0.57204	0.815;0.34;0.34	T	0.55398	-0.8147	10	0.51188	T	0.08	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	423;636;636	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	636;636;574;423	ENSP00000331418:T636M;ENSP00000382933:T636M;ENSP00000382927:T574M;ENSP00000387608:T423M	ENSP00000331418:T636M	T	+	2	0	0	PTPRM	8103534	8103534	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	ACG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				67	65		291	288	1		1	1		0	0	67	0		1	9.999888e-01	0	4	0	71	0	67	291
PTPRM	5797	broad.mit.edu	37	18	8244161	8244161	+	Silent	SNP	C	C	T	rs376160903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400060.4_Silent_p.C802C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400053.4_Silent_p.C740C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	802					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)			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)				GCACAAACTGCGACGAGGCTT	0.483																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(2404-2406)tgC>tgT		protein tyrosine phosphatase, receptor type, M		C	,	1,4405	2.1+/-5.4	0,1,2202	159.0	143.0	148.0		2406,2406	-0.1	1.0	18		148	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	802/1466,802/1453	8244161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797	1	121412	32				g.chr18:8244161C>T	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.2406C>T	chr18.hg19:g.8244161C>T		0					PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400053.4_Silent_p.C740C	p.C802C	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		15	3443	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	1	1	hg19	c.2406C>T	CCDS11840.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-3.184063	1	0.170000				79	78		374	369	1		1	1		0	0	115	0		1	9.999995e-01	0	5	0	96	0	79	374
PTPRM	5797	broad.mit.edu	37	18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1262	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)				AGTCACCCAGCATCCTTTGCC	0.433																																						ENST00000332175.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				90						c.(3784-3786)Cat>Tat		protein tyrosine phosphatase, receptor type, M							99.0	90.0	93.0					18																	8380330		2203	4300	6503	SO:0001583	missense	5797	0	0					g.chr18:8380330C>T	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.3784C>T	chr18.hg19:g.8380330C>T	ENSP00000331418:p.His1262Tyr	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y	p.H1262Y	NM_002845.3	NP_002836.3	0	1	1	1.988234	P28827	PTPRM_HUMAN		27	4821	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.3784C>T	CCDS11840.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391628	0.83011	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.66	5.66	0.87406	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.76002	2.32	0.80722	D	1	B;D;D	0.62365	0.12;0.991;0.969	B;D;D	0.76575	0.291;0.988;0.968	T	0.04708	-1.0932	10	0.42905	T	0.14	.	19.7344	0.96195	0.0:1.0:0.0:0.0	.	1049;1275;1262	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1262;1276;1200;1049	ENSP00000331418:H1262Y;ENSP00000382933:H1276Y;ENSP00000382927:H1200Y;ENSP00000387608:H1049Y	ENSP00000331418:H1262Y	H	+	1	0	0	PTPRM	8370330	8370330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	CAT	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				52	52		281	278	1		1	1		0	0	60	0		1	9.999984e-01	0	3	0	106	0	52	281
ANKRD12	23253	broad.mit.edu	37	18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T	rs187421957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	582						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						TGATCTTGTTCGGTATGATAA	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0					ENST00000262126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1744-1746)Cgg>Tgg		ankyrin repeat domain 12							64.0	66.0	65.0					18																	9255009		2202	4297	6499	SO:0001583	missense	23253	12	121392	43				g.chr18:9255009C>T	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.1744C>T	chr18.hg19:g.9255009C>T	ENSP00000262126:p.Arg582Trp	0					ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W	p.R582W	NM_015208.4	NP_056023.3	0	1	1	1.988234	Q6UB98	ANR12_HUMAN		9	1984	+			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	1	1	hg19	c.1744C>T	CCDS11843.1	1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021177	0.54576	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.92	4.97	0.65823	5.92	4.97	0.65823	.	0.057065	0.64402	D	0.000001	D	0.95984	0.8692	M	0.77820	2.39	0.47778	D	0.999513	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.971	D	0.96146	0.9104	10	0.87932	D	0	-8.2663	17.8287	0.88674	0.1302:0.8698:0.0:0.0	.	209;559;582	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	W	559;582;289	ENSP00000372932:R559W;ENSP00000262126:R582W	ENSP00000262126:R582W	R	+	1	2	2	ANKRD12	9245009	9245009	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	3.404000	0.52623	2.814000	0.96858	0.585000	0.79938	CGG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.127447	1	0.170000	NM_015208			61	59		269	265	1		1	1		0	0	97	0		1	9.961984e-01	0	4	0	36	0	61	269
TWSG1	57045	broad.mit.edu	37	18	9359999	9359999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	51	Cys-rich.				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)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443																																						ENST00000262120.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(151-153)ggC>ggT		twisted gastrulation BMP signaling modulator 1							116.0	109.0	112.0					18																	9359999		2203	4300	6503	SO:0001819	synonymous_variant	57045	0	0					g.chr18:9359999C>T	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.153C>T	chr18.hg19:g.9359999C>T		0					TWSG1_ENST00000581641.1_Silent_p.G51G	p.G51G	NM_020648.5	NP_065699.1	0	1	1	1.988234	Q9GZX9	TWSG1_HUMAN		3	344	+			B2RE08|D3DUH9|Q8NBI7|Q96K46	Silent	SNP	ENST00000262120.5	1	1	hg19	c.153C>T	CCDS11844.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				75	71		297	293	1		1	1		0	0	83	0		1	1	0	26	0	234	0	75	297
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A	rs371220710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1	43					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGATTGTACCGCACTGGCGAG	0.542																																						ENST00000019317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(127-129)cGc>cAc		ralA binding protein 1	Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	G	HIS/ARG	0,4406		0,0,2203	61.0	60.0	60.0		128	5.1	1.0	18		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALBP1	NM_006788.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	43/656	9513171	1,13005	2203	4300	6503	SO:0001583	missense	10928	1	121412	29				g.chr18:9513171G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.128G>A	chr18.hg19:g.9513171G>A	ENSP00000019317:p.Arg43His	0					RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H	p.R43H			0	1	1	1.988234	Q15311	RBP1_HUMAN		2	351	+			D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	1	1	hg19	c.128G>A	CCDS11845.1	1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800218	0.70567	0.0	1.16E-4	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11930	2.73;2.73	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.24701	0.055	T	0.06285	-1.0835	10	0.48119	T	0.1	-10.9518	18.8686	0.92303	0.0:0.0:1.0:0.0	.	43	Q15311	RBP1_HUMAN	H	43	ENSP00000019317:R43H;ENSP00000372924:R43H	ENSP00000019317:R43H	R	+	2	0	0	RALBP1	9503171	9503171	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.499000	0.97975	2.520000	0.84964	0.462000	0.41574	CGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.404201	1	0.170000	NM_006788			55	54		254	244	1		1	1		0	0	57	0		1	1	0	69	0	191	0	55	254
RALBP1	10928	broad.mit.edu	37	18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1	635					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAAAGAGCAGCCAAAGGCAGG	0.657																																						ENST00000019317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1903-1905)Cca>Tca		ralA binding protein 1	Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)						21.0	23.0	22.0					18																	9535870		2199	4296	6495	SO:0001583	missense	10928	0	0					g.chr18:9535870C>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1903C>T	chr18.hg19:g.9535870C>T	ENSP00000019317:p.Pro635Ser	0					RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S	p.P635S			0	1	1	1.988234	Q15311	RBP1_HUMAN		10	2126	+			D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	1	1	hg19	c.1903C>T	CCDS11845.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489420	0.64074	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09445	2.98;2.98	4.0	4.0	0.46444	4.0	4.0	0.46444	.	0.314786	0.27922	N	0.017318	T	0.12475	0.0303	L	0.43152	1.355	0.46749	D	0.999188	B	0.23058	0.079	B	0.21917	0.037	T	0.07731	-1.0757	10	0.59425	D	0.04	-9.5647	16.4737	0.84125	0.0:1.0:0.0:0.0	.	635	Q15311	RBP1_HUMAN	S	635	ENSP00000019317:P635S;ENSP00000372924:P635S	ENSP00000019317:P635S	P	+	1	0	0	RALBP1	9525870	9525870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.200000	0.58433	1.940000	0.56252	0.561000	0.74099	CCA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_006788			34	34		123	123	1		1	1		0	0	32	0		1	1	0	29	0	86	0	34	123
PPP4R1	9989	broad.mit.edu	37	18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	648					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						ACCAGGGAGGCTATATGCACA	0.488																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(1942-1944)aGc>aAc		protein phosphatase 4, regulatory subunit 1							174.0	160.0	164.0					18																	9559502		2014	4193	6207	SO:0001583	missense	9989	0	0					g.chr18:9559502C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1943G>A	chr18.hg19:g.9559502C>T	ENSP00000383402:p.Ser648Asn	0					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	p.S648N	NM_001042388.2	NP_001035847.1	0	1	1	1.988234	Q8TF05	PP4R1_HUMAN		14	2016	-			Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	1	1	hg19	c.1943G>A	CCDS42412.1	1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555564	0.65425	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33216	1.42;1.42	5.57	4.69	0.59074	5.57	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.133058	0.64402	D	0.000003	T	0.38374	0.1038	L	0.43923	1.385	0.53005	D	0.999968	B;D;B	0.54047	0.356;0.964;0.318	B;P;B	0.52031	0.057;0.688;0.122	T	0.08868	-1.0701	9	.	.	.	-13.2938	15.6966	0.77506	0.1379:0.8621:0.0:0.0	.	631;648;631	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	648;631	ENSP00000383402:S648N;ENSP00000383401:S631N	.	S	-	2	0	0	PPP4R1	9549502	9549502	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	7.487000	0.81328	1.316000	0.45131	0.650000	0.86243	AGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_005134			137	136		589	583	1		1	1		0	0	144	0		1	1	0	98	0	193	0	137	589
PPP4R1	9989	broad.mit.edu	37	18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	431					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GTAACATAGATTTGTAGTTAC	0.418																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(1291-1293)aaA>aaC		protein phosphatase 4, regulatory subunit 1							92.0	88.0	89.0					18																	9570435		1857	4085	5942	SO:0001583	missense	9989	0	0					g.chr18:9570435T>G	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1293A>C	chr18.hg19:g.9570435T>G	ENSP00000383402:p.Lys431Asn	0					PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	p.K431N	NM_001042388.2	NP_001035847.1	0	1	1	1.988234	Q8TF05	PP4R1_HUMAN		11	1366	-			Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	1	1	hg19	c.1293A>C	CCDS42412.1	1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636570	0.29068	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19394	2.15;2.15	5.52	-1.54	0.08584	5.52	-1.54	0.08584	Armadillo-type fold (1);	1.051530	0.07338	N	0.880217	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37079	-0.9721	9	.	.	.	-2.9067	0.4872	0.00558	0.1767:0.2291:0.2082:0.386	.	414;431;414	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	431;414;342	ENSP00000383402:K431N;ENSP00000383401:K414N	.	K	-	3	2	2	PPP4R1	9560435	9560435	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	0.382000	0.20635	0.014000	0.14944	0.482000	0.46254	AAA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_005134			91	89		426	424	1		1	1		0	0	95	0		1	1	0	82	0	173	0	91	426
TXNDC2	84203	broad.mit.edu	37	18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000357775.5_5'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	40					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAAAGCTCATTACTAGTCCTG	0.398																																						ENST00000306084.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(118-120)tTa>tCa		thioredoxin domain containing 2 (spermatozoa)							50.0	50.0	50.0					18																	9886595		2203	4300	6503	SO:0001583	missense	84203	0	0					g.chr18:9886595T>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.119T>C	chr18.hg19:g.9886595T>C	ENSP00000304908:p.Leu40Ser	0					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_5'UTR|TXNDC2_ENST00000536353.2_5'UTR	p.L40S	NM_001098529.1	NP_001091999.1	0	1	1	1.988234	Q86VQ3	TXND2_HUMAN		2	318	+			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	1	1	hg19	c.119T>C	CCDS42414.1	1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261827	0.23051	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.16897	2.31	3.99	2.8	0.32819	3.99	2.8	0.32819	.	.	.	.	.	T	0.17704	0.0425	L	0.32530	0.975	0.09310	N	0.999997	D	0.62365	0.991	P	0.51297	0.665	T	0.08827	-1.0703	8	.	.	.	-4.0932	6.4832	0.22075	0.0:0.1115:0.0:0.8885	.	40	Q86VQ3	TXND2_HUMAN	S	40	ENSP00000304908:L40S	.	L	+	2	0	0	TXNDC2	9876595	9876595	0.041000	0.20044	0.027000	0.17364	0.031000	0.12232	1.945000	0.40273	0.859000	0.35456	0.460000	0.39030	TTA	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				53	51		215	211	1		1			0	0	45	0		1	0	0	0	0	0	0	53	215
TXNDC2	84203	broad.mit.edu	37	18	9887884	9887884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000306084.6	+	2	1607	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.L403L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	470	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGGGAGAGGCTGGTGGCTGT	0.572																																						ENST00000306084.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1408-1410)Ctg>Ttg		thioredoxin domain containing 2 (spermatozoa)							66.0	53.0	58.0					18																	9887884		2203	4300	6503	SO:0001819	synonymous_variant	84203	0	0					g.chr18:9887884C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1408C>T	chr18.hg19:g.9887884C>T		0					TXNDC2_ENST00000357775.5_Silent_p.L403L|TXNDC2_ENST00000536353.2_3'UTR	p.L470L	NM_001098529.1	NP_001091999.1	0	1	1	1.988234	Q86VQ3	TXND2_HUMAN		2	1607	+			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	1	1	hg19	c.1408C>T	CCDS42414.1	1																																																																																								1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-20.000000	1	0.170000				48	46		159	151	1		1			0	0	51	0		1	0	0	0	0	0	0	48	159
TXNDC2	84203	broad.mit.edu	37	18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000306084.6	+	2	1812	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.C471Y	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	538	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATGAACTTTGCGGCGCCCTT	0.418																																						ENST00000306084.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999465	0.990000	1.000000																										0				31						c.(1612-1614)tGc>tAc		thioredoxin domain containing 2 (spermatozoa)							34.0	36.0	35.0					18																	9888089		2203	4300	6503	SO:0001583	missense	84203	0	0					g.chr18:9888089G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1613G>A	chr18.hg19:g.9888089G>A	ENSP00000304908:p.Cys538Tyr	0					TXNDC2_ENST00000357775.5_Missense_Mutation_p.C471Y|TXNDC2_ENST00000536353.2_3'UTR	p.C538Y	NM_001098529.1	NP_001091999.1	0	1	1	1.988234	Q86VQ3	TXND2_HUMAN		2	1812	+			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	1	1	hg19	c.1613G>A	CCDS42414.1	1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325117	0.24080	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13420	2.59;2.59	3.92	0.99	0.19807	3.92	0.99	0.19807	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.609210	0.17247	N	0.181337	T	0.14830	0.0358	N	0.08118	0	0.47009	D	0.999282	D	0.71674	0.998	D	0.68943	0.961	T	0.06752	-1.0809	9	.	.	.	-0.0356	11.862	0.52471	0.0:0.595:0.405:0.0	.	538	Q86VQ3	TXND2_HUMAN	Y	336;471;538;523	ENSP00000350419:C471Y;ENSP00000304908:C538Y	.	C	+	2	0	0	TXNDC2	9878089	9878089	0.872000	0.30054	0.681000	0.30009	0.169000	0.22640	0.403000	0.20982	0.193000	0.20303	-0.310000	0.09108	TGC	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				23	23		134	130	1		1			0	0	32	0		9.999995e-01	0	0	0	0	0	0	23	134
ADNP2	22850	broad.mit.edu	37	18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1106					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)			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)		AAAATCACAAGCCTTCTGTAC	0.303																																						ENST00000262198.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3316-3318)aaG>aaT		ADNP homeobox 2							30.0	33.0	32.0					18																	77896614		2176	4278	6454	SO:0001583	missense	22850	0	0					g.chr18:77896614G>T	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.3318G>T	chr18.hg19:g.77896614G>T	ENSP00000262198:p.Lys1106Asn	0						p.K1106N	NM_014913.3	NP_055728.1	0	1	1	1.988234	Q6IQ32	ADNP2_HUMAN		4	3773	+		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)	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	1	1	hg19	c.3318G>T	CCDS32853.1	1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447950	0.43429	.	.	ENSG00000101544	ENST00000262198	D	0.91686	-2.89	4.43	0.386	0.16254	4.43	0.386	0.16254	Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.92522	0.7625	L	0.55743	1.74	0.34969	D	0.75298	D	0.67145	0.996	D	0.63793	0.918	D	0.91527	0.5239	9	.	.	.	-26.3007	9.0574	0.36414	0.5522:0.0:0.4478:0.0	.	1106	Q6IQ32	ADNP2_HUMAN	N	1106	ENSP00000262198:K1106N	.	K	+	3	2	2	ADNP2	75997605	75997605	0.731000	0.28111	0.999000	0.59377	0.978000	0.69477	-0.344000	0.07780	0.121000	0.18284	0.561000	0.74099	AAG	1.664574e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_014913			33	32		128	128	0		1	1		0	0	39	0		1	9.960539e-01	0	14	0	23	0	33	128
GRIN3B	116444	broad.mit.edu	37	19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	508					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTACGGCGCCCTGCGGGACGG	0.687																																						ENST00000234389.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1522-1524)Ctg>Atg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)						21.0	23.0	22.0					19																	1005022		2203	4292	6495	SO:0001583	missense	116444	0	0					g.chr19:1005022C>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1522C>A	chr19.hg19:g.1005022C>A	ENSP00000234389:p.Leu508Met	0					AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	p.L508M	NM_138690.1	NP_619635.1	1	2	3	2.010022	O60391	NMD3B_HUMAN		3	1541	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	1	1	hg19	c.1522C>A	CCDS32861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297039	0.40594	.	.	ENSG00000116032	ENST00000234389	T	0.54071	0.59	4.53	3.41	0.39046	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.320202	0.31290	N	0.007919	T	0.50548	0.1622	L	0.28556	0.865	0.26560	N	0.973747	D	0.59357	0.985	P	0.59115	0.852	T	0.35649	-0.9780	10	0.52906	T	0.07	.	6.458	0.21940	0.0:0.7768:0.0:0.2232	.	508	O60391	NMD3B_HUMAN	M	508	ENSP00000234389:L508M	ENSP00000234389:L508M	L	+	1	2	2	GRIN3B	956022	956022	0.995000	0.38212	0.998000	0.56505	0.557000	0.35523	2.531000	0.45650	2.100000	0.63781	0.485000	0.47835	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				59	58		237	235	1		1	0		0	0	36	0		1	0	0	0	0	1	0	59	237
GRIN3B	116444	broad.mit.edu	37	19	1005113	1005113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005113G>A	ENST00000234389.3	+	3	1632	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	538					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACTCCGCCCGCTCACAGGTG	0.687																																						ENST00000234389.3	1.000000	0.100000	4.000000e-01	1.600000e-01	0.250000	0.317423	0.250000	0.230000																										0				11						c.(1612-1614)cGc>cAc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)						41.0	37.0	38.0					19																	1005113		2203	4299	6502	SO:0001583	missense	116444	6	121362	36				g.chr19:1005113G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1613G>A	chr19.hg19:g.1005113G>A	ENSP00000234389:p.Arg538His	0					AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	p.R538H	NM_138690.1	NP_619635.1	1	2	3	2.010022	O60391	NMD3B_HUMAN		3	1632	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	0	1	hg19	c.1613G>A	CCDS32861.1	0	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263363	0.80358	.	.	ENSG00000116032	ENST00000234389	T	0.70749	-0.51	4.53	4.53	0.55603	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	H	0.96111	3.77	0.47621	D	0.999475	D	0.89917	1.0	D	0.97110	1.0	D	0.92716	0.6187	10	0.87932	D	0	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	538	O60391	NMD3B_HUMAN	H	538	ENSP00000234389:R538H	ENSP00000234389:R538H	R	+	2	0	0	GRIN3B	956113	956113	1.000000	0.71417	0.932000	0.37286	0.960000	0.62799	9.675000	0.98638	2.100000	0.63781	0.485000	0.47835	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	0	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-4.015503	1	0.170000				6	6		310	309	0		1			0	0	43	0		9.650205e-01	0	0	0	0	0	0	6	310
COL5A3	50509	broad.mit.edu	37	19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1279	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)			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)			GGGGAACCATCTATGCCCTGC	0.582																																						ENST00000264828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(3835-3837)Gat>Tat		collagen, type V, alpha 3							65.0	65.0	65.0					19																	10081698		2203	4300	6503	SO:0001583	missense	50509	0	0					g.chr19:10081698C>A	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.3835G>T	chr19.hg19:g.10081698C>A	ENSP00000264828:p.Asp1279Tyr	0						p.D1279Y	NM_015719.3	NP_056534.2	1	2	3	2.010022	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	53	3920	-			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	1	1	hg19	c.3835G>T	CCDS12222.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259475	0.59321	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.144776	0.44688	D	0.000427	D	0.95121	0.8419	M	0.67517	2.055	0.54753	D	0.999988	D	0.71674	0.998	P	0.60789	0.879	D	0.94502	0.7710	10	0.41790	T	0.15	.	14.6536	0.68817	0.0:1.0:0.0:0.0	.	1279	P25940	CO5A3_HUMAN	Y	1279	ENSP00000264828:D1279Y	ENSP00000264828:D1279Y	D	-	1	0	0	COL5A3	9942698	9942698	0.961000	0.32948	0.041000	0.18516	0.349000	0.29174	4.675000	0.61619	2.306000	0.77630	0.455000	0.32223	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015719			67	63		328	315	1		1	1		0	0	77	0		1	9.999336e-01	0	17	0	54	0	67	328
COL5A3	50509	broad.mit.edu	37	19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	829	Collagen-like 3.|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)			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)			CGCTCTCCTTCCAGGCCTGGC	0.522																																						ENST00000264828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(2485-2487)Gaa>Aaa		collagen, type V, alpha 3							106.0	91.0	96.0					19																	10091784		2203	4300	6503	SO:0001583	missense	50509	0	0					g.chr19:10091784C>T	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.2485G>A	chr19.hg19:g.10091784C>T	ENSP00000264828:p.Glu829Lys	0						p.E829K	NM_015719.3	NP_056534.2	1	2	3	2.010022	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	33	2570	-			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	1	1	hg19	c.2485G>A	CCDS12222.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841790	0.51057	.	.	ENSG00000080573	ENST00000264828	D	0.94376	-3.41	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.234079	0.35262	N	0.003334	T	0.76758	0.4032	N	0.00656	-1.285	0.30216	N	0.797247	B	0.29481	0.245	B	0.31946	0.138	T	0.72184	-0.4367	10	0.06494	T	0.89	.	11.3128	0.49375	0.0:0.8155:0.1845:0.0	.	829	P25940	CO5A3_HUMAN	K	829	ENSP00000264828:E829K	ENSP00000264828:E829K	E	-	1	0	0	COL5A3	9952784	9952784	0.751000	0.28327	0.958000	0.39756	0.716000	0.41182	1.691000	0.37721	2.220000	0.72140	0.313000	0.20887	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.665380	1	0.170000	NM_015719			80	79		317	308	1		1	1		0	0	82	0		1	9.999608e-01	0	25	0	36	0	80	317
COL5A3	50509	broad.mit.edu	37	19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	677	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)			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)			CCATCGGATCCTGGGAGGCCT	0.552																																						ENST00000264828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(2029-2031)Gga>Aga		collagen, type V, alpha 3							45.0	48.0	47.0					19																	10100162		2203	4300	6503	SO:0001583	missense	50509	0	0					g.chr19:10100162C>T	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.2029G>A	chr19.hg19:g.10100162C>T	ENSP00000264828:p.Gly677Arg	0						p.G677R	NM_015719.3	NP_056534.2	1	2	3	2.010022	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	25	2114	-			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	1	1	hg19	c.2029G>A	CCDS12222.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179716	0.78564	.	.	ENSG00000080573	ENST00000264828	D	0.98807	-5.15	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	D	0.99429	0.9798	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98300	1.0518	10	0.87932	D	0	.	13.4752	0.61303	0.0:1.0:0.0:0.0	.	677	P25940	CO5A3_HUMAN	R	677	ENSP00000264828:G677R	ENSP00000264828:G677R	G	-	1	0	0	COL5A3	9961162	9961162	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	6.071000	0.71229	2.250000	0.74265	0.561000	0.74099	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.580189	1	0.170000	NM_015719			52	52		199	193	1		1	1		0	0	50	0		1	9.999993e-01	0	37	0	48	0	52	199
COL5A3	50509	broad.mit.edu	37	19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	266	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)			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)			TTTCCTTGTTCTTTTTCCTGC	0.577											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(796-798)aaG>aaT		collagen, type V, alpha 3							265.0	196.0	220.0					19																	10114292		2203	4300	6503	SO:0001583	missense	50509	0	0					g.chr19:10114292C>A	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.798G>T	chr19.hg19:g.10114292C>A	ENSP00000264828:p.Lys266Asn	0		OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.K266N	NM_015719.3	NP_056534.2	1	2	3	2.010022	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	6	883	-			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	1	1	hg19	c.798G>T	CCDS12222.1	1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701652	0.15172	.	.	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.08	-0.41	0.12374	4.08	-0.41	0.12374	.	1.705140	0.03235	N	0.179441	D	0.90480	0.7018	L	0.52573	1.65	0.26607	N	0.972915	D	0.71674	0.998	D	0.73708	0.981	T	0.77156	-0.2691	10	0.18276	T	0.48	.	3.327	0.07071	0.0:0.4355:0.2062:0.3584	.	266	P25940	CO5A3_HUMAN	N	266	ENSP00000264828:K266N	ENSP00000264828:K266N	K	-	3	2	2	COL5A3	9975292	9975292	0.995000	0.38212	0.995000	0.50966	0.530000	0.34684	-0.000000	0.12993	0.132000	0.18615	-0.382000	0.06688	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_015719			69	67		319	306	1		1	1		0	0	76	0		1	9.999998e-01	0	36	0	71	0	69	319
RDH8	50700	broad.mit.edu	37	19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000171214.1	+	3	626	c.377T>G	c.(376-378)cTt>cGt	p.L126R	RDH8_ENST00000591589.1_Missense_Mutation_p.L146R	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	126					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)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607																																						ENST00000171214.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(376-378)cTt>cGt		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						90.0	87.0	88.0					19																	10129521		2203	4300	6503	SO:0001583	missense	50700	0	0					g.chr19:10129521T>G	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.377T>G	chr19.hg19:g.10129521T>G	ENSP00000171214:p.Leu126Arg	0					RDH8_ENST00000591589.1_Missense_Mutation_p.L146R	p.L126R	NM_015725.2	NP_056540.2	1	2	3	2.010022	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)	3	626	+			Q9H838	Missense_Mutation	SNP	ENST00000171214.1	1	1	hg19	c.377T>G		1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449839	0.84101	.	.	ENSG00000080511	ENST00000171214	D	0.95035	-3.59	5.34	5.34	0.76211	5.34	5.34	0.76211	NAD(P)-binding domain (1);	0.054757	0.64402	D	0.000001	D	0.97779	0.9271	M	0.93550	3.43	0.49582	D	0.999808	D	0.71674	0.998	D	0.79108	0.992	D	0.98708	1.0703	10	0.87932	D	0	.	13.2557	0.60076	0.0:0.0:0.0:1.0	.	126	Q9NYR8	RDH8_HUMAN	R	126	ENSP00000171214:L126R	ENSP00000171214:L126R	L	+	2	0	0	RDH8	9990521	9990521	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.657000	0.83745	2.016000	0.59253	0.402000	0.26972	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				126	125		422	416	1		1	0		0	0	91	0		1	0	0	0	0	1	0	126	422
RDH8	50700	broad.mit.edu	37	19	10132384	10132384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000171214.1	+	6	1144	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	RDH8_ENST00000591589.1_Silent_p.L319L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	299					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)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587																																						ENST00000171214.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(895-897)Ctg>Ttg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						94.0	91.0	92.0					19																	10132384		2203	4300	6503	SO:0001819	synonymous_variant	50700	0	0					g.chr19:10132384C>T	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.895C>T	chr19.hg19:g.10132384C>T		0					RDH8_ENST00000591589.1_Silent_p.L319L	p.L299L	NM_015725.2	NP_056540.2	1	2	3	2.010022	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)	6	1144	+			Q9H838	Silent	SNP	ENST00000171214.1	1	1	hg19	c.895C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000				67	64		262	256	1		1			0	0	73	0		1	0	0	0	0	0	0	67	262
C19orf66	55337	broad.mit.edu	37	19	10200693	10200693	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000253110.11	+	5	652	c.354C>A	c.(352-354)gtC>gtA	p.V118V	C19orf66_ENST00000591813.1_Silent_p.V118V|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Silent_p.V67V	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582																																						ENST00000253110.11	1.000000	0.800000	1	9.900000e-01	0.990000	0.988009	0.990000	1.000000																										0				4						c.(352-354)gtC>gtA		chromosome 19 open reading frame 66							37.0	40.0	39.0					19																	10200693		2145	4244	6389	SO:0001819	synonymous_variant	55337	0	0					g.chr19:10200693C>A		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.354C>A	chr19.hg19:g.10200693C>A		0					CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Silent_p.V67V|C19orf66_ENST00000591813.1_Silent_p.V118V	p.V118V	NM_018381.2	NP_060851.2	1	2	3	2.010022	Q9NUL5	CS066_HUMAN		5	652	+			A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Silent	SNP	ENST00000253110.11	0	1	hg19	c.354C>A	CCDS45957.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-15.728830	1	0.170000	NM_018381			8	8		48	48	0		1	1		0	0	21	0		9.911902e-01	1	0	174	0	257	0	8	48
ANGPTL6	83854	broad.mit.edu	37	19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	219					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647																																						ENST00000253109.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(655-657)atG>atA		angiopoietin-like 6							66.0	58.0	61.0					19																	10205540		2203	4300	6503	SO:0001583	missense	83854	0	0					g.chr19:10205540C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.657G>A	chr19.hg19:g.10205540C>T	ENSP00000253109:p.Met219Ile	0					ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I	p.M219I	NM_031917.2	NP_114123.2	1	2	3	2.010022	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)	3	895	-			A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	1	1	hg19	c.657G>A	CCDS12224.1	1	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910153	0.02434	.	.	ENSG00000130812	ENST00000253109	T	0.51071	0.72	4.02	1.81	0.25067	4.02	1.81	0.25067	.	4.157180	0.00589	N	0.000341	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.35671	T	0.21	.	2.2278	0.03989	0.204:0.4872:0.1976:0.1112	.	219	Q8NI99	ANGL6_HUMAN	I	219	ENSP00000253109:M219I	ENSP00000253109:M219I	M	-	3	0	0	ANGPTL6	10066540	10066540	0.000000	0.05858	0.253000	0.24343	0.063000	0.16089	0.086000	0.14935	0.988000	0.38734	0.484000	0.47621	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_031917			68	65		270	263	0		1	0		0	0	58	0		1	4.165948e-02	0	1	0	1	0	68	270
P2RY11	5032	broad.mit.edu	37	19	10224727	10224727	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	ENST00000321826.4	+	2	622	c.438C>A	c.(436-438)gcC>gcA	p.A146A	PPAN_ENST00000556468.1_Silent_p.A566A|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	146					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)			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)			CCAAGCACGCCTGGGCCGTGA	0.677																																						ENST00000321826.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				16						c.(436-438)gcC>gcA		purinergic receptor P2Y, G-protein coupled, 11							50.0	46.0	47.0					19																	10224727		2203	4300	6503	SO:0001819	synonymous_variant	5032	0	0					g.chr19:10224727C>A	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.438C>A	chr19.hg19:g.10224727C>A		0					PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A|PPAN_ENST00000556468.1_Silent_p.A566A|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.A146A	NM_002566.4	NP_002557.2	1	2	3	2.010022	Q96G91	P2Y11_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)	2	622	+			B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	1	1	hg19	c.438C>A	CCDS12226.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	1		23	2	2	0		0	1	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_002566			49	49		333	329	0		1	1		0	0	52	0		9.995500e-01	6.630908e-01	0	3	0	14	0	49	333
P2RY11	5032	broad.mit.edu	37	19	10225213	10225213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	ENST00000321826.4	+	2	1108	c.924C>T	c.(922-924)ggC>ggT	p.G308G	PPAN_ENST00000556468.1_Silent_p.G728G|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	308					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)			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)			TGATGCGGGGCCTCATGCCCC	0.687																																						ENST00000321826.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(922-924)ggC>ggT		purinergic receptor P2Y, G-protein coupled, 11							42.0	47.0	45.0					19																	10225213		2203	4300	6503	SO:0001819	synonymous_variant	5032	0	0					g.chr19:10225213C>T	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.924C>T	chr19.hg19:g.10225213C>T		0					PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G|PPAN_ENST00000556468.1_Silent_p.G728G|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.G308G	NM_002566.4	NP_002557.2	1	2	3	2.010022	Q96G91	P2Y11_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)	2	1108	+			B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	1	1	hg19	c.924C>T	CCDS12226.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_002566			68	67		352	348	0		1	1		0	0	63	0		1	9.955489e-01	0	7	0	38	0	68	352
P2RY11	5032	broad.mit.edu	37	19	10225276	10225276	+	Silent	SNP	C	C	T	rs561006758|rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	ENST00000321826.4	+	2	1171	c.987C>T	c.(985-987)ggC>ggT	p.G329G	PPAN_ENST00000556468.1_Silent_p.G749G|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	329					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)			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)			CCAGCCTGGGCTGCTGCTGCC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.0					ENST00000321826.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(985-987)ggC>ggT		purinergic receptor P2Y, G-protein coupled, 11		C	,,	1,4405		0,1,2202	40.0	47.0	45.0		2247,,987	-0.1	0.5	19	dbSNP_134	45	0,8596		0,0,4298	no	coding-synonymous,utr-3,coding-synonymous	P2RY11,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4	,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,	749/795,,329/375	10225276	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	5032	1	121404	38				g.chr19:10225276C>T	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.987C>T	chr19.hg19:g.10225276C>T		0					PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G|PPAN_ENST00000556468.1_Silent_p.G749G|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.G329G	NM_002566.4	NP_002557.2	1	2	3	2.010022	Q96G91	P2Y11_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)	2	1171	+			B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	1	1	hg19	c.987C>T	CCDS12226.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_002566			72	72		368	364	0		1	1		0	0	64	0		1	9.969969e-01	0	7	0	40	0	72	368
CNN2	1265	broad.mit.edu	37	19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			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)		GTCAGCTACGGCATGAACCCT	0.577																																						ENST00000263097.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(295-297)gGc>gAc		calponin 2							75.0	68.0	71.0					19																	1032601		2203	4300	6503	SO:0001583	missense	1265	0	0					g.chr19:1032601G>A	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.296G>A	chr19.hg19:g.1032601G>A	ENSP00000263097:p.Gly99Asp	0					CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D	p.G99D	NM_004368.2	NP_004359.1	1	2	3	2.010022	Q99439	CNN2_HUMAN		4	659	+		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)	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	1	1	hg19	c.296G>A	CCDS12053.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339530	0.81911	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.67171	-0.25;-0.25	4.05	4.05	0.47172	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.86636	0.5980	H	0.96301	3.8	0.54753	D	0.999987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.998;0.996;0.991;0.996	D	0.90803	0.4695	10	0.87932	D	0	.	13.759	0.62954	0.0:0.0:1.0:0.0	.	99;99;99;99;99	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	D	99;99;78	ENSP00000263097:G99D;ENSP00000340129:G99D	ENSP00000263097:G99D	G	+	2	0	0	CNN2	983601	983601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.068000	0.93961	1.827000	0.53221	0.306000	0.20318	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_004368			51	50		237	231	1		1	1		0	0	72	0		1	1	0	158	0	499	0	51	237
DNMT1	1786	broad.mit.edu	37	19	10270737	10270737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10270737G>A	ENST00000340748.4	-	14	1233	c.998C>T	c.(997-999)aCg>aTg	p.T333M	DNMT1_ENST00000540357.1_Missense_Mutation_p.T333M|DNMT1_ENST00000359526.4_Missense_Mutation_p.T349M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	333	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)			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)	TTTTTTCTCCGTTCTGGGGGA	0.493																																						ENST00000340748.4	1.000000	0.380000	6.700000e-01	4.600000e-01	0.550000	0.586081	0.550000	0.540000																										0				70						c.(997-999)aCg>aTg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)						57.0	68.0	64.0					19																	10270737		2190	4289	6479	SO:0001583	missense	1786	2	120758	35				g.chr19:10270737G>A	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.998C>T	chr19.hg19:g.10270737G>A	ENSP00000345739:p.Thr333Met	0					DNMT1_ENST00000359526.4_Missense_Mutation_p.T349M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T333M	p.T333M			1	2	3	2.010022	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)	14	1233	-			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	1	0	hg19	c.998C>T	CCDS12228.1	0	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419248	0.25552	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80824	-1.42;1.4;1.4	4.2	-3.26	0.05064	4.2	-3.26	0.05064	.	1.842200	0.02527	N	0.093187	T	0.64832	0.2634	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.50171	-0.8859	10	0.48119	T	0.1	.	3.1146	0.06370	0.3659:0.0:0.3289:0.3052	.	333;349;333	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	349;333;333;201	ENSP00000352516:T349M;ENSP00000440457:T333M;ENSP00000345739:T333M	ENSP00000345739:T333M	T	-	2	0	0	DNMT1	10131737	10131737	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-1.764000	0.01800	-0.456000	0.07043	0.650000	0.86243	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	1	0	1		2	2	2	0		0	0	120		120	107	1	2.060000	-4.714583	1	0.170000	NM_001379			36	31		756	684	0		1	1		0	0	120	0		1	9.618731e-01	0	5	0	108	0	36	756
ICAM1	3383	broad.mit.edu	37	19	10385700	10385700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	109					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TCCTCACCGTGTACTGTGAGT	0.552																																						ENST00000264832.3	1.000000	0.260000	5.500000e-01	3.300000e-01	0.420000	0.473743	0.420000	0.400000																										0				14						c.(325-327)gtG>gtA		intercellular adhesion molecule 1	Hyaluronan(DB08818)|Natalizumab(DB00108)						87.0	89.0	88.0					19																	10385700		2202	4298	6500	SO:0001819	synonymous_variant	3383	0	0					g.chr19:10385700G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.327G>A	chr19.hg19:g.10385700G>A		0					ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	p.V109V	NM_000201.2	NP_000192.2	1	2	3	2.010022	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	2	652	+			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	1	1	hg19	c.327G>A	CCDS12231.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	0	0	1		14	10	2	1		1	1	160		160	160	1	2.060000	-3.699280	1	0.170000				21	21		583	576	1		1	1		1	0	160	0		9.090578e-01	7.823199e-01	0	36	0	325	0	21	583
ICAM1	3383	broad.mit.edu	37	19	10394718	10394718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10394718C>T	ENST00000264832.3	+	4	972	c.647C>T	c.(646-648)gCg>gTg	p.A216V	ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	216					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GTCCTGCCAGCGACTCCCCCA	0.627																																						ENST00000264832.3	1.000000	0.090000	2.900000e-01	1.300000e-01	0.190000	0.264889	0.190000	0.180000																										0				14						c.(646-648)gCg>gTg		intercellular adhesion molecule 1	Hyaluronan(DB08818)|Natalizumab(DB00108)						83.0	86.0	85.0					19																	10394718		2202	4298	6500	SO:0001583	missense	3383	10	121412	40				g.chr19:10394718C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.647C>T	chr19.hg19:g.10394718C>T	ENSP00000264832:p.Ala216Val	0					ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	p.A216V	NM_000201.2	NP_000192.2	1	2	3	2.010022	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	4	972	+			B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	0	1	hg19	c.647C>T	CCDS12231.1	0	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626659	0.14257	.	.	ENSG00000090339	ENST00000264832	T	0.03386	3.95	4.18	-8.36	0.00980	4.18	-8.36	0.00980	Immunoglobulin-like fold (1);	13.567900	0.00633	N	0.000497	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	0.999998	B	0.13594	0.008	B	0.06405	0.002	T	0.43750	-0.9372	10	0.27082	T	0.32	-0.6359	5.1923	0.15216	0.5147:0.1608:0.0:0.3245	.	216	P05362	ICAM1_HUMAN	V	216	ENSP00000264832:A216V	ENSP00000264832:A216V	A	+	2	0	0	ICAM1	10255718	10255718	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.777000	0.00775	-2.479000	0.00524	0.511000	0.50034	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	0	0	0		2	2	2	0		0	0	122		122	121	1	2.060000	-2.724437	1	0.170000				9	9		577	563	0		1	1		0	0	122	0		9.936092e-01	9.825748e-01	0	3	0	447	0	9	577
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.P311L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCAGGCTTTCCGGCGCCCAAC	0.612																																						ENST00000264832.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P311L(1)	ovary(1)	14						c.(931-933)cCg>cTg		intercellular adhesion molecule 1	Hyaluronan(DB08818)|Natalizumab(DB00108)																																			SO:0001583	missense	3383	4	121330	38				g.chr19:10395085C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.932C>T	chr19.hg19:g.10395085C>T	ENSP00000264832:p.Pro311Leu	0					ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	p.P311L	NM_000201.2	NP_000192.2	1	2	3	2.010022	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	5	1257	+			B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	1	1	hg19	c.932C>T	CCDS12231.1	1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	0	ICAM1	10256085	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-2.869656	1	0.170000				98	95		398	390	1		1	1		0	0	109	0		1	1	0	98	0	243	0	98	398
ICAM5	7087	broad.mit.edu	37	19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	153	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				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)			CCGTGCGAGCCTCACGCTGAC	0.721																																						ENST00000221980.4	1.000000	0.400000	7.400000e-01	4.900000e-01	0.590000	0.624695	0.590000	0.570000																										0				21						c.(457-459)Ctc>Ttc		intercellular adhesion molecule 5, telencephalin							25.0	33.0	30.0					19																	10402269		2139	4191	6330	SO:0001583	missense	7087	0	0					g.chr19:10402269C>T	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.457C>T	chr19.hg19:g.10402269C>T	ENSP00000221980:p.Leu153Phe	0					CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	p.L153F	NM_003259.3	NP_003250.3	1	2	3	2.010022	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)	3	520	+			Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	1	1	hg19	c.457C>T	CCDS12233.1	0	.	.	.	.	.	.	.	.	.	.	c	27.9	4.873232	0.91664	.	.	ENSG00000105376	ENST00000221980	T	0.07327	3.2	5.5	5.5	0.81552	5.5	5.5	0.81552	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.30355	0.0762	M	0.78916	2.43	0.36512	D	0.869632	D	0.89917	1.0	D	0.97110	1.0	T	0.18840	-1.0324	10	0.66056	D	0.02	-29.093	14.9435	0.71012	0.0:1.0:0.0:0.0	.	153	Q9UMF0	ICAM5_HUMAN	F	153	ENSP00000221980:L153F	ENSP00000221980:L153F	L	+	1	0	0	ICAM5	10263269	10263269	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.566000	0.45948	2.602000	0.87976	0.466000	0.42574	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	1	0	1		2	2	2	0		0	0	104		104	100	1	2.060000	-20.000000	1	0.170000	NM_003259			31	31		604	600	0		1	0		0	0	104	0		1	2.590254e-03	0	0	0	2	0	31	604
ICAM5	7087	broad.mit.edu	37	19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G	rs367841080		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	649	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				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)			AACGCCACCAACCGCCACGGC	0.682																																						ENST00000221980.4	1.000000	0.290000	4.700000e-01	3.400000e-01	0.390000	0.447806	0.390000	0.400000																										0				21						c.(1945-1947)aAc>aGc		intercellular adhesion molecule 5, telencephalin							96.0	112.0	107.0					19																	10404950		2202	4300	6502	SO:0001583	missense	7087	0	0					g.chr19:10404950A>G	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.1946A>G	chr19.hg19:g.10404950A>G	ENSP00000221980:p.Asn649Ser	0						p.N649S	NM_003259.3	NP_003250.3	1	2	3	2.010022	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)	8	2009	+			Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	1	1	hg19	c.1946A>G	CCDS12233.1	0	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341696	0.11069	.	.	ENSG00000105376	ENST00000221980	T	0.60920	0.15	5.21	4.2	0.49525	5.21	4.2	0.49525	Immunoglobulin-like fold (1);	0.235251	0.29900	N	0.010901	T	0.41834	0.1176	L	0.38175	1.15	0.31734	N	0.636686	P	0.36027	0.533	B	0.34536	0.185	T	0.49643	-0.8918	10	0.30078	T	0.28	-20.9295	6.936	0.24466	0.8984:0.0:0.1016:0.0	.	649	Q9UMF0	ICAM5_HUMAN	S	649	ENSP00000221980:N649S	ENSP00000221980:N649S	N	+	2	0	0	ICAM5	10265950	10265950	0.988000	0.35896	0.932000	0.37286	0.077000	0.17291	3.046000	0.49846	1.968000	0.57251	0.448000	0.29417	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	0	0	1		2	2	2	0		0	0	277		277	270	1	2.060000	-2.489512	0	0.170000	NM_003259			54	53		1574	1562	0		1	0		0	0	277	0		1	1.940975e-01	0	1	0	23	0	54	1574
ABCA7	10347	broad.mit.edu	37	19	1041388	1041388	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000435683.2_5'Flank|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000433129.1_Silent_p.L10L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	10					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGCTGCTGCTCTGGAA	0.652																																						ENST00000263094.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(28-30)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							120.0	113.0	115.0					19																	1041388		2203	4300	6503	SO:0001819	synonymous_variant	10347	0	0					g.chr19:1041388C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.28C>T	chr19.hg19:g.1041388C>T		0					ABCA7_ENST00000433129.1_Silent_p.L10L|ABCA7_ENST00000435683.2_5'Flank|AC011558.5_ENST00000585757.1_RNA	p.L10L	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		2	259	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	1	1	hg19	c.28C>T	CCDS12055.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1		2	2	2	0		0	0	144		144	140	1	2.060000	-20.000000	1	0.170000	NM_019112			128	126		581	570	0		1	1		0	0	144	0		1	8.800674e-01	0	6	0	13	0	128	581
ABCA7	10347	broad.mit.edu	37	19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	110					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGATGCCCGCACTGTGCTG	0.726																																						ENST00000263094.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998923	0.990000	1.000000																										0				65						c.(328-330)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							8.0	9.0	9.0					19																	1042089		2145	4197	6342	SO:0001583	missense	10347	0	0					g.chr19:1042089G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.329G>A	chr19.hg19:g.1042089G>A	ENSP00000263094:p.Arg110His	0					ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H|ABCA7_ENST00000435683.2_5'Flank	p.R110H	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		5	560	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	0	1	hg19	c.329G>A	CCDS12055.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784331	0.31593	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.47	-6.85	0.01681	3.47	-6.85	0.01681	.	.	.	.	.	T	0.27765	0.0683	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15752	-1.0426	9	0.39692	T	0.17	.	1.6592	0.02787	0.4479:0.1362:0.2784:0.1375	.	110;110	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	H	110;110;108;110	ENSP00000263094:R110H;ENSP00000431473:R110H;ENSP00000433545:R108H;ENSP00000414062:R110H	ENSP00000263094:R110H	R	+	2	0	0	ABCA7	993089	993089	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.244000	0.02902	-1.205000	0.02645	-1.157000	0.01802	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	NM_019112			17	17		97	97	1		1	1		0	0	13	0		9.999765e-01	6.035246e-01	0	4	0	9	0	17	97
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A	rs541040666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H|ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R198L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17346	0.0		0.0	False		,,,				2504	0.0					ENST00000263094.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										1	Substitution - Missense(1)	p.R198L(1)	lung(1)	65						c.(592-594)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							28.0	31.0	30.0					19																	1043053		2202	4298	6500	SO:0001583	missense	10347	3	121328	35				g.chr19:1043053G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.593G>A	chr19.hg19:g.1043053G>A	ENSP00000263094:p.Arg198His	0					ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	p.R198H	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		8	824	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	1	1	hg19	c.593G>A	CCDS12055.1	1	.	.	.	.	.	.	.	.	.	.	g	5.419	0.262452	0.10294	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	4.1	1.92	0.25849	4.1	1.92	0.25849	.	.	.	.	.	T	0.69566	0.3125	N	0.08118	0	0.18873	N	0.999986	B;B	0.33904	0.0;0.431	B;B	0.22152	0.0;0.038	T	0.59521	-0.7439	9	0.48119	T	0.1	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	198	ENSP00000263094:R198H;ENSP00000414062:R198H	ENSP00000263094:R198H	R	+	2	0	0	ABCA7	994053	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_019112			40	40		238	234	1		1	1		0	0	51	0		1	8.751942e-01	0	4	0	20	0	40	238
ABCA7	10347	broad.mit.edu	37	19	1043394	1043394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043394G>A	ENST00000263094.6	+	9	1083	c.852G>A	c.(850-852)tgG>tgA	p.W284*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	284					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGCTCTGGAGACGCCTGA	0.662																																						ENST00000263094.6	1.000000	0.140000	3.600000e-01	1.900000e-01	0.260000	0.323341	0.260000	0.250000																										0				65						c.(850-852)tgG>tgA		ATP-binding cassette, sub-family A (ABC1), member 7							53.0	64.0	60.0					19																	1043394		2203	4300	6503	SO:0001587	stop_gained	10347	25	121400	47				g.chr19:1043394G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.852G>A	chr19.hg19:g.1043394G>A	ENSP00000263094:p.Trp284*	0					ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	p.W284*	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		9	1083	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	0	1	hg19	c.852G>A	CCDS12055.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.790066	0.96945	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.25	4.25	0.50352	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000263094:W284X	W	+	3	0	0	ABCA7	994394	994394	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.221000	0.78016	1.937000	0.56155	0.313000	0.20887	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	0	0		2	2	2	0		0	0	113		113	111	1	2.060000	-4.227557	1	0.170000	NM_019112			14	14		654	639	0		1	1		0	0	113	0		9.997129e-01	1.395833e-01	0	2	0	27	0	14	654
ICAM5	7087	broad.mit.edu	37	19	10406086	10406086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	765	Ig-like C2-type 9.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				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)			GAGGAAACTTCACGTTGACCT	0.687																																						ENST00000221980.4	1.000000	0.450000	1	6.400000e-01	0.890000	0.847230	0.890000	1.000000																										0				21						c.(2293-2295)ttC>ttT		intercellular adhesion molecule 5, telencephalin							12.0	15.0	14.0					19																	10406086		2152	4271	6423	SO:0001819	synonymous_variant	7087	0	0					g.chr19:10406086C>T	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.2295C>T	chr19.hg19:g.10406086C>T		0						p.F765F	NM_003259.3	NP_003250.3	1	2	3	2.010022	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)	10	2358	+			Q9Y6F3	Silent	SNP	ENST00000221980.4	1	1	hg19	c.2295C>T	CCDS12233.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-14.694350	1	0.170000	NM_003259			10	9		129	127	0		1	1		0	0	29	0		9.968916e-01	1.841069e-01	0	3	0	7	0	10	129
ABCA7	10347	broad.mit.edu	37	19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W|ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	305					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTTACCCGGAAGCTCAT	0.652																																						ENST00000263094.6	1.000000	0.330000	5.900000e-01	3.900000e-01	0.470000	0.520267	0.470000	0.460000																										0				65						c.(913-915)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 7							72.0	82.0	79.0					19																	1043455		2203	4300	6503	SO:0001583	missense	10347	2	121394	39				g.chr19:1043455C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.913C>T	chr19.hg19:g.1043455C>T	ENSP00000263094:p.Arg305Trp	0					ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	p.R305W	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		9	1144	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	1	1	hg19	c.913C>T	CCDS12055.1	0	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394187	0.42410	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86164	-2.08;-2.08	4.18	-1.11	0.09840	4.18	-1.11	0.09840	.	.	.	.	.	D	0.91016	0.7174	M	0.75777	2.31	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81551	-0.0881	9	0.87932	D	0	.	6.6097	0.22745	0.4667:0.4442:0.0:0.0892	.	167;305	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	305	ENSP00000263094:R305W;ENSP00000414062:R305W	ENSP00000263094:R305W	R	+	1	2	2	ABCA7	994455	994455	0.000000	0.05858	0.274000	0.24659	0.527000	0.34593	-0.337000	0.07852	-0.442000	0.07190	-0.671000	0.03813	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	0		2	2	2	0		0	0	158		158	158	1	2.060000	-2.424718	0	0.170000	NM_019112			34	32		828	813	0		1	1		0	0	158	0		1	2.540827e-01	0	2	0	22	0	34	828
RAVER1	125950	broad.mit.edu	37	19	10434065	10434065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	ENST00000293677.6	-	4	1066	c.985G>A	c.(985-987)Gct>Act	p.A329T	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	312	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCTGGGCAGCGATGAGAGCG	0.721																																						ENST00000293677.6	1.000000	0.780000	1	9.900000e-01	0.990000	0.984776	0.990000	1.000000																										0				18						c.(985-987)Gct>Act		ribonucleoprotein, PTB-binding 1							10.0	13.0	12.0					19																	10434065		1953	4121	6074	SO:0001583	missense	125950	0	0					g.chr19:10434065C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.985G>A	chr19.hg19:g.10434065C>T	ENSP00000293677:p.Ala329Thr	0					CTD-2369P2.12_ENST00000586529.1_5'Flank	p.A329T	NM_133452.2	NP_597709.2	1	2	3	2.010022	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)	4	1066	-			A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	0	1	hg19	c.985G>A	CCDS45960.1	1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554745	0.65425	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.13089	2.62	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.53249	1.67	0.50171	D	0.999859	P	0.37441	0.595	B	0.19148	0.024	T	0.09164	-1.0687	10	0.33141	T	0.24	-8.3268	14.9961	0.71433	0.0:1.0:0.0:0.0	.	329	E9PAU2	.	T	329;312	ENSP00000293677:A329T	ENSP00000293677:A329T	A	-	1	0	0	RAVER1	10295065	10295065	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_133452			13	13		100	98	1		1	1		0	0	19	0		9.995958e-01	9.533416e-01	0	2	0	41	0	13	100
ICAM3	3385	broad.mit.edu	37	19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000160262.5	-	7	1793	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P452S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	529					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGTGAGGGGCAGATAGGTG	0.587																																						ENST00000160262.5	1.000000	0.780000	1	8.800000e-01	0.990000	0.959652	0.990000	1.000000																										0				13						c.(1585-1587)Ccc>Tcc		intercellular adhesion molecule 3							192.0	166.0	175.0					19																	10444592		2203	4300	6503	SO:0001583	missense	3385	0	0					g.chr19:10444592G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1585C>T	chr19.hg19:g.10444592G>A	ENSP00000160262:p.Pro529Ser	0					ICAM3_ENST00000589261.1_Missense_Mutation_p.P452S|RAVER1_ENST00000293677.6_5'Flank	p.P529S	NM_002162.3	NP_002153.2	1	2	3	2.010022	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)	7	1793	-			Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	1	1	hg19	c.1585C>T	CCDS12235.1	1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822346	0.71028	.	.	ENSG00000076662	ENST00000160262	T	0.02421	4.3	4.48	2.34	0.29019	4.48	2.34	0.29019	.	0.722845	0.11948	N	0.513942	T	0.02193	0.0068	L	0.27053	0.805	0.22489	N	0.999056	B	0.33528	0.416	B	0.25884	0.064	T	0.46652	-0.9176	10	0.62326	D	0.03	-9.2889	6.0761	0.19915	0.2378:0.0:0.7622:0.0	.	529	P32942	ICAM3_HUMAN	S	529	ENSP00000160262:P529S	ENSP00000160262:P529S	P	-	1	0	0	ICAM3	10305592	10305592	0.839000	0.29477	0.732000	0.30844	0.568000	0.35870	0.518000	0.22847	0.601000	0.29879	0.561000	0.74099	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1	0	0	1		16	6	2	1		1	1	165		165	163	1	2.060000	-15.315900	1	0.170000				62	61		672	660	0		1	1		1	0	165	0		1	9.968972e-01	0	13	0	168	0	62	672
ABCA7	10347	broad.mit.edu	37	19	1045210	1045210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1045210G>A	ENST00000263094.6	+	12	1656	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	ABCA7_ENST00000435683.2_Silent_p.R337R|ABCA7_ENST00000433129.1_Silent_p.R475R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	475					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCACGAGGACCAATAAGA	0.652																																						ENST00000263094.6	1.000000	0.180000	5.400000e-01	2.600000e-01	0.370000	0.427858	0.370000	0.340000																										0				65						c.(1423-1425)agG>agA		ATP-binding cassette, sub-family A (ABC1), member 7							30.0	31.0	31.0					19																	1045210		2202	4297	6499	SO:0001819	synonymous_variant	10347	3	121126	35				g.chr19:1045210G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1425G>A	chr19.hg19:g.1045210G>A		0					ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	p.R475R	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		12	1656	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	0	1	hg19	c.1425G>A	CCDS12055.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-10.611760	1	0.170000	NM_019112			10	10		329	324	0		1	0		0	0	59	0		9.967542e-01	1.495934e-01	0	1	0	20	0	10	329
ABCA7	10347	broad.mit.edu	37	19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCCTGGCCCAGCCGCG	0.657																																						ENST00000263094.6	1.000000	0.370000	6.000000e-01	4.300000e-01	0.500000	0.542942	0.500000	0.500000																										0				65						c.(1459-1461)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 7							72.0	79.0	76.0					19																	1046243		2203	4297	6500	SO:0001583	missense	10347	0	0					g.chr19:1046243G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1460G>A	chr19.hg19:g.1046243G>A	ENSP00000263094:p.Gly487Asp	0					ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D|ABCA7_ENST00000533574.1_3'UTR	p.G487D	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		13	1691	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	1	1	hg19	c.1460G>A	CCDS12055.1	0	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234844	0.58886	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97959	-4.63;-4.63	4.95	4.95	0.65309	4.95	4.95	0.65309	.	.	.	.	.	D	0.98280	0.9430	M	0.62154	1.92	0.45194	D	0.998207	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.831	D	0.99556	1.0967	9	0.87932	D	0	.	15.6578	0.77155	0.0:0.0:1.0:0.0	.	349;487	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	487	ENSP00000263094:G487D;ENSP00000414062:G487D	ENSP00000263094:G487D	G	+	2	0	0	ABCA7	997243	997243	1.000000	0.71417	0.026000	0.17262	0.020000	0.10135	9.650000	0.98490	2.294000	0.77228	0.556000	0.70494	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1		2	2	2	0		0	0	204		204	200	1	2.060000	-4.488385	1	0.170000	NM_019112			50	49		1147	1132	0		1	1		0	0	204	0		1	1.932225e-01	0	2	0	17	0	50	1147
ABCA7	10347	broad.mit.edu	37	19	1046403	1046403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	540					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGACGACGTGTGAGCTC	0.701																																						ENST00000263094.6	1.000000	0.810000	1	8.900000e-01	0.970000	0.957215	0.970000	1.000000																										0				65						c.(1618-1620)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 7							114.0	116.0	116.0					19																	1046403		2202	4297	6499	SO:0001819	synonymous_variant	10347	0	0					g.chr19:1046403C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1620C>T	chr19.hg19:g.1046403C>T		0					ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D|ABCA7_ENST00000533574.1_3'UTR	p.D540D	NM_019112.3	NP_061985.2	1	2	3	2.010022	Q8IZY2	ABCA7_HUMAN		13	1851	+		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)	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	1	1	hg19	c.1620C>T	CCDS12055.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1		2	2	2	0		0	0	226		226	226	1	2.060000	-20.000000	1	0.170000	NM_019112			127	125		1422	1412	0		1	1		0	0	226	0		1	2.917350e-01	0	2	0	11	0	127	1422
ICAM3	3385	broad.mit.edu	37	19	10444960	10444960	+	Silent	SNP	G	G	A	rs527877890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444960G>A	ENST00000160262.5	-	6	1525	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.G362G	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	439	Ig-like C2-type 5.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCCGGCTGGAGCCTTCCTTCA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000160262.5	1.000000	0.120000	4.000000e-01	1.900000e-01	0.270000	0.335857	0.270000	0.250000																										0				13						c.(1315-1317)ggC>ggT		intercellular adhesion molecule 3							84.0	85.0	85.0					19																	10444960		2203	4300	6503	SO:0001819	synonymous_variant	3385	2	121412	35				g.chr19:10444960G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1317C>T	chr19.hg19:g.10444960G>A		0					ICAM3_ENST00000589261.1_Silent_p.G362G|RAVER1_ENST00000293677.6_5'Flank	p.G439G	NM_002162.3	NP_002153.2	1	2	3	2.010022	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)	6	1525	-			Q6PD68	Silent	SNP	ENST00000160262.5	0	1	hg19	c.1317C>T	CCDS12235.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-8.376347	1	0.170000				9	9		412	404	0		1	1		0	0	55	0		9.938101e-01	9.332092e-01	0	10	0	208	0	9	412
TYK2	7297	broad.mit.edu	37	19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	607	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CACTCGCAGGCGGCCCTCATA	0.632																																						ENST00000525621.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1819-1821)cGc>cAc		tyrosine kinase 2							76.0	67.0	70.0					19																	10472585		2203	4300	6503	SO:0001583	missense	7297	6	121412	41				g.chr19:10472585C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1820G>A	chr19.hg19:g.10472585C>T	ENSP00000431885:p.Arg607His	0					TYK2_ENST00000529370.1_Missense_Mutation_p.R607H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000524462.1_Missense_Mutation_p.R422H	p.R607H	NM_003331.4	NP_003322.3	1	2	3	2.010022	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)	13	2301	-			Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	1	1	hg19	c.1820G>A	CCDS12236.1	1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723072	0.15439	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.93	1.56	0.23342	4.93	1.56	0.23342	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.821987	0.10076	N	0.719098	T	0.17023	0.0409	L	0.43701	1.375	0.09310	N	1	B;B	0.27498	0.18;0.018	B;B	0.20767	0.031;0.015	T	0.32455	-0.9906	10	0.16896	T	0.51	-11.9141	4.2795	0.10825	0.4233:0.397:0.1797:0.0	.	607;607	E9PPF2;P29597	.;TYK2_HUMAN	H	422;607;607;354;607	ENSP00000433203:R422H;ENSP00000431885:R607H;ENSP00000264818:R607H;ENSP00000432728:R607H	ENSP00000264818:R607H	R	-	2	0	0	TYK2	10333585	10333585	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	0.676000	0.25247	0.218000	0.20820	-0.397000	0.06425	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000				111	108		480	472	1		1	1		0	0	107	0		1	1	0	46	0	111	0	111	480
CDC37	11140	broad.mit.edu	37	19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	200					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567																																						ENST00000222005.2	1.000000	0.810000	1	9.100000e-01	0.990000	0.967950	0.990000	1.000000																										0				16						c.(598-600)Gag>Tag		cell division cycle 37							208.0	180.0	189.0					19																	10505909		2203	4300	6503	SO:0001587	stop_gained	11140	0	0					g.chr19:10505909C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.598G>T	chr19.hg19:g.10505909C>A	ENSP00000222005:p.Glu200*	0						p.E200*	NM_007065.3	NP_008996.1	1	2	3	2.010022	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	4	651	-			Q53YA2	Nonsense_Mutation	SNP	ENST00000222005.2	0	1	hg19	c.598G>T	CCDS12237.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.103354	0.97286	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000222005:E200X	E	-	1	0	0	CDC37	10366909	10366909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.011000	0.76359	1.948000	0.56530	0.462000	0.41574	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	1	0	1		2	2	2	0		0	0	213		213	212	1	2.060000	-19.774830	1	0.170000	NM_007065			91	88		982	962	0		1	1		0	0	213	0		1	1	0	5	0	915	0	91	982
CDC37	11140	broad.mit.edu	37	19	10506754	10506754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	76					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652																																						ENST00000222005.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(226-228)ggC>ggT		cell division cycle 37							94.0	92.0	92.0					19																	10506754		2203	4300	6503	SO:0001819	synonymous_variant	11140	1	121412	40				g.chr19:10506754G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.228C>T	chr19.hg19:g.10506754G>A		0						p.G76G	NM_007065.3	NP_008996.1	1	2	3	2.010022	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	2	281	-			Q53YA2	Silent	SNP	ENST00000222005.2	1	1	hg19	c.228C>T	CCDS12237.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	1	0	1		2	2	2	0		0	0	127		127	122	1	2.060000	-3.325642	1	0.170000	NM_007065			200	195		812	797	0		1	1		0	0	127	0		1	1	0	173	0	622	0	200	812
PDE4A	5141	broad.mit.edu	37	19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000352831.6	+	13	1842	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	578	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAACTACTCCGACCGCATCCA	0.587																																						ENST00000352831.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				27						c.(1732-1734)Gac>Aac		phosphodiesterase 4A, cAMP-specific	Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)						128.0	103.0	112.0					19																	10572664		2203	4300	6503	SO:0001583	missense	5141	0	0					g.chr19:10572664G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1732G>A	chr19.hg19:g.10572664G>A	ENSP00000270474:p.Asp578Asn	0					PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N	p.D578N	NM_001111307.1	NP_001104777.1	1	2	3	2.010022	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)	13	1842	+			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	1	1	hg19	c.1732G>A	CCDS45961.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.271568	0.95429	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.49	4.49	0.54785	4.49	4.49	0.54785	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	0.81113	0.4755	M	0.62016	1.91	0.80722	D	1	P;D;D;D;D	0.89917	0.865;1.0;1.0;1.0;1.0	B;D;D;D;D	0.80764	0.268;0.979;0.994;0.986;0.992	T	0.81560	-0.0877	10	0.45353	T	0.12	.	14.6592	0.68858	0.0:0.0:1.0:0.0	.	244;339;517;552;578	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	20;556;578;552;517;339;244	ENSP00000370078:D556N;ENSP00000270474:D578N;ENSP00000293683:D552N;ENSP00000394754:D517N;ENSP00000341007:D339N	ENSP00000293683:D552N	D	+	1	0	0	PDE4A	10433664	10433664	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.697000	0.98697	2.062000	0.61559	0.484000	0.47621	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-3.318800	1	0.170000				72	71		477	463	1		1	1		0	0	106	0		1	9.999926e-01	0	26	0	87	0	72	477
PDE4A	5141	broad.mit.edu	37	19	10578270	10578270	+	Silent	SNP	C	C	T	rs373634594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000352831.6	+	15	2744	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_ENST00000380702.2_Silent_p.G856G|PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000592685.1_Silent_p.G856G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	878					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCCTGGTGGCGGGGGGTCAG	0.662																																						ENST00000352831.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2632-2634)ggC>ggT		phosphodiesterase 4A, cAMP-specific	Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)		,,,	0,4188		0,0,2094	37.0	39.0	39.0		2634,2556,2451,1917	-1.6	0.0	19		39	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	,,,	0,1,6224	TT,TC,CC		0.0121,0.0,0.0080	,,,	878/887,852/861,817/826,639/648	10578270	1,12449	2094	4131	6225	SO:0001819	synonymous_variant	5141	3	119682	37				g.chr19:10578270C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2634C>T	chr19.hg19:g.10578270C>T		0					PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000380702.2_Silent_p.G856G	p.G878G	NM_001111307.1	NP_001104777.1	1	2	3	2.010022	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)	15	2744	+			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	1	1	hg19	c.2634C>T	CCDS45961.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1	1	0	1		2	2	2	0		0	0	73		73	64	1	2.060000	-2.404386	0	0.170000				73	71		404	384	1		1	1		0	0	73	0		1	9.999938e-01	0	21	0	76	0	73	404
KEAP1	9817	broad.mit.edu	37	19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	543					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GAAAGTCCACGTCTCTGTTTC	0.602																																						ENST00000171111.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999829	0.990000	1.000000																										0				92						c.(1627-1629)aCg>aTg		kelch-like ECH-associated protein 1	Dimethyl fumarate(DB08908)						82.0	62.0	69.0					19																	10599948		2203	4300	6503	SO:0001583	missense	9817	2	121412	37				g.chr19:10599948G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1628C>T	chr19.hg19:g.10599948G>A	ENSP00000171111:p.Thr543Met	0					KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	p.T543M	NM_203500.1	NP_987096.1	1	2	3	2.010022	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)	5	2175	-			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	1	1	hg19	c.1628C>T	CCDS12239.1	1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858697	0.17178	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80393	-1.37;-1.37	5.73	2.31	0.28768	5.73	2.31	0.28768	Kelch-type beta propeller (1);	0.704760	0.14924	N	0.290506	T	0.76198	0.3954	M	0.80746	2.51	0.09310	N	1	P	0.47034	0.889	B	0.40825	0.341	T	0.69316	-0.5177	10	0.48119	T	0.1	.	2.3283	0.04228	0.1659:0.1499:0.5294:0.1548	.	543	Q14145	KEAP1_HUMAN	M	543	ENSP00000171111:T543M;ENSP00000377245:T543M	ENSP00000171111:T543M	T	-	2	0	0	KEAP1	10460948	10460948	0.001000	0.12720	0.004000	0.12327	0.055000	0.15305	0.984000	0.29565	0.805000	0.34159	-0.225000	0.12378	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_012289			28	27		166	163	1		1	1		0	0	37	0		1	1	0	60	0	353	0	28	166
S1PR5	53637	broad.mit.edu	37	19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	87					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCGTAGGCGGCGCCTGCCAGC	0.662																																						ENST00000439028.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.996825	0.990000	1.000000																										0				12						c.(259-261)Gcc>Acc		sphingosine-1-phosphate receptor 5	Fingolimod(DB08868)						25.0	23.0	24.0					19																	10625429		2194	4297	6491	SO:0001583	missense	53637	0	0					g.chr19:10625429C>T	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.259G>A	chr19.hg19:g.10625429C>T	ENSP00000416915:p.Ala87Thr	0					S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	p.A87T	NM_001166215.1	NP_001159687.1	1	2	3	2.010022	Q9H228	S1PR5_HUMAN		2	384	-			Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	1	1	hg19	c.259G>A	CCDS12240.1	1	.	.	.	.	.	.	.	.	.	.	c	18.29	3.591210	0.66219	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.14	3.1	0.35709	4.14	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.527108	0.17544	N	0.170432	T	0.25344	0.0616	N	0.20986	0.625	0.28383	N	0.919465	P	0.48407	0.91	B	0.42798	0.398	T	0.05099	-1.0906	10	0.33141	T	0.24	.	10.8097	0.46540	0.0:0.9041:0.0:0.0959	.	87	Q9H228	S1PR5_HUMAN	T	87	ENSP00000416915:A87T;ENSP00000328472:A87T	ENSP00000328472:A87T	A	-	1	0	0	S1PR5	10486429	10486429	0.010000	0.17322	0.974000	0.42286	0.462000	0.32619	0.594000	0.24014	0.947000	0.37659	0.306000	0.20318	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_030760			17	17		112	112	1		1	0		0	0	26	0		9.999768e-01	0	0	0	0	1	0	17	112
ATG4D	84971	broad.mit.edu	37	19	10657740	10657740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	ENST00000309469.4	+	4	892	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	240					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			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)			CAGAGCTCAGGCAAGAAGGCA	0.657																																						ENST00000309469.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997875	0.990000	1.000000																										0				19						c.(718-720)gGc>gAc		autophagy related 4D, cysteine peptidase							23.0	22.0	22.0					19																	10657740		2199	4296	6495	SO:0001583	missense	84971	0	0					g.chr19:10657740G>A	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.719G>A	chr19.hg19:g.10657740G>A	ENSP00000311318:p.Gly240Asp	0					ATG4D_ENST00000540862.1_Intron	p.G240D	NM_032885.4	NP_116274.3	1	2	3	2.010022	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)	4	892	+			Q969K0	Missense_Mutation	SNP	ENST00000309469.4	0	1	hg19	c.719G>A	CCDS12241.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.156656	0.94686	.	.	ENSG00000130734	ENST00000309469	T	0.51325	0.71	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.105878	0.64402	D	0.000005	T	0.68696	0.3029	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.994	D;D;D	0.97110	0.951;1.0;0.968	T	0.69131	-0.5226	10	0.48119	T	0.1	-33.1185	17.8112	0.88616	0.0:0.0:1.0:0.0	.	177;263;240	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	D	240	ENSP00000311318:G240D	ENSP00000311318:G240D	G	+	2	0	0	ATG4D	10518740	10518740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.366000	0.73095	2.498000	0.84270	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.333910	1	0.170000	NM_032885			10	10		45	45	0		1	1		0	0	8	0		9.977818e-01	9.963634e-01	0	18	0	32	0	10	45
HMHA1	23526	broad.mit.edu	37	19	1068512	1068512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1068512C>T	ENST00000313093.2	+	2	421	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	64					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GACCCTCAAGCGGCCCACCAG	0.731																																						ENST00000313093.2	1.000000	0.570000	1	8.200000e-01	0.990000	0.937706	0.990000	1.000000																										0				16						c.(190-192)Cgg>Tgg		histocompatibility (minor) HA-1							5.0	6.0	6.0					19																	1068512		1932	3887	5819	SO:0001583	missense	23526	1	116990	19				g.chr19:1068512C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.190C>T	chr19.hg19:g.1068512C>T	ENSP00000316772:p.Arg64Trp	0					HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W|HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W	p.R64W	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		2	421	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	0	1	hg19	c.190C>T	CCDS32863.1	1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754701	0.49362	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039	T;T	0.32988	1.43;1.43	4.2	0.564	0.17302	4.2	0.564	0.17302	.	0.000000	0.64402	D	0.000001	T	0.51856	0.1699	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54227	-0.8325	10	0.87932	D	0	-29.3359	12.4539	0.55693	0.6368:0.3632:0.0:0.0	.	80;64	F6QP70;Q92619	.;HMHA1_HUMAN	W	80;64;64;58	ENSP00000439601:R80W;ENSP00000316772:R64W	ENSP00000316772:R64W	R	+	1	2	2	HMHA1	1019512	1019512	1.000000	0.71417	0.796000	0.32109	0.227000	0.25037	0.765000	0.26546	-0.008000	0.14320	0.549000	0.68633	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-15.374770	1	0.170000				9	8		87	81	0		1	0		0	0	9	0		9.928658e-01	1.133787e-02	0	0	0	2	0	9	87
HMHA1	23526	broad.mit.edu	37	19	1073559	1073559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073559T>C	ENST00000313093.2	+	4	851	c.620T>C	c.(619-621)cTg>cCg	p.L207P	HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	207					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GAGAAGGCCCTGGAGACGATT	0.602																																						ENST00000313093.2	1.000000	0.130000	5.700000e-01	2.200000e-01	0.350000	0.411661	0.350000	0.300000																										0				16						c.(619-621)cTg>cCg		histocompatibility (minor) HA-1							60.0	53.0	56.0					19																	1073559		2202	4300	6502	SO:0001583	missense	23526	0	0					g.chr19:1073559T>C	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.620T>C	chr19.hg19:g.1073559T>C	ENSP00000316772:p.Leu207Pro	0					HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P|HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P	p.L207P	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		4	851	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	0	1	hg19	c.620T>C	CCDS32863.1	0	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372450	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.25414	1.8;1.84;1.88;1.8	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.095832	0.46145	D	0.000309	T	0.47948	0.1473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.996	D;D;D;P	0.73708	0.981;0.914;0.974;0.823	T	0.51647	-0.8679	10	0.87932	D	0	-19.7701	12.1537	0.54064	0.0:0.0:0.0:1.0	.	47;223;90;207	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	P	223;207;207;47;201;90	ENSP00000439601:L223P;ENSP00000316772:L207P;ENSP00000445109:L47P;ENSP00000438979:L90P	ENSP00000316772:L207P	L	+	2	0	0	HMHA1	1024559	1024559	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.423000	0.80229	1.540000	0.49301	0.402000	0.26972	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-7.035544	1	0.170000				5	5		186	182	0		1	0		0	0	41	0		9.348494e-01	4.150997e-01	0	0	0	47	0	5	186
HMHA1	23526	broad.mit.edu	37	19	1073969	1073969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073969C>T	ENST00000313093.2	+	6	977	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	249					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CTGTATGGACCGGGCAGTGAG	0.677																																						ENST00000313093.2	1.000000	0.190000	1	3.800000e-01	0.680000	0.683108	0.680000	1.000000																										0				16						c.(745-747)cCg>cTg		histocompatibility (minor) HA-1							14.0	16.0	16.0					19																	1073969		2194	4287	6481	SO:0001583	missense	23526	0	0					g.chr19:1073969C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.746C>T	chr19.hg19:g.1073969C>T	ENSP00000316772:p.Pro249Leu	0					HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L	p.P249L	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		6	977	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	0	1	hg19	c.746C>T	CCDS32863.1	0	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963844	0.18583	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.21031	2.04;2.06;2.09;2.03	3.79	-5.7	0.02421	3.79	-5.7	0.02421	.	2.021690	0.02590	N	0.099859	T	0.12689	0.0308	L	0.31926	0.97	0.09310	N	1	B;P;B;B	0.34864	0.052;0.473;0.344;0.226	B;B;B;B	0.25614	0.012;0.062;0.039;0.028	T	0.21449	-1.0245	10	0.28530	T	0.3	-0.0795	8.0782	0.30729	0.5429:0.3739:0.0:0.0831	.	89;265;132;249	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	265;249;249;89;243;132	ENSP00000439601:P265L;ENSP00000316772:P249L;ENSP00000445109:P89L;ENSP00000438979:P132L	ENSP00000316772:P249L	P	+	2	0	0	HMHA1	1024969	1024969	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.461000	0.06712	-0.701000	0.05063	0.491000	0.48974	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-7.248338	1	0.170000				3	3		58	58	0		1	0		0	0	13	0		8.125641e-01	6.436384e-01	0	1	0	38	0	3	58
HMHA1	23526	broad.mit.edu	37	19	1074171	1074171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000313093.2	+	7	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000590214.1_Silent_p.L314L|HMHA1_ENST00000586866.1_Silent_p.L291L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	287					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		TGCCGCACTGCTGTATGCCAA	0.652																																						ENST00000313093.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(859-861)Ctg>Ttg		histocompatibility (minor) HA-1							69.0	57.0	61.0					19																	1074171		2203	4300	6503	SO:0001819	synonymous_variant	23526	0	0					g.chr19:1074171C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.859C>T	chr19.hg19:g.1074171C>T		0					HMHA1_ENST00000590214.1_Silent_p.L314L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000586866.1_Silent_p.L291L	p.L287L	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		7	1090	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	1	1	hg19	c.859C>T	CCDS32863.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000				64	63		311	308	1		1	0		0	0	90	0		1	9.944297e-01	0	1	0	40	0	64	311
KRI1	65095	broad.mit.edu	37	19	10672384	10672384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000361821.5_Silent_p.S151S|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	149	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607																																						ENST00000312962.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(463-465)tcG>tcA		KRI1 homolog (S. cerevisiae)							146.0	142.0	143.0					19																	10672384		2203	4300	6503	SO:0001819	synonymous_variant	65095	1	121412	32				g.chr19:10672384C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.465G>A	chr19.hg19:g.10672384C>T		0					KRI1_ENST00000361821.5_Silent_p.S151S|KRI1_ENST00000537964.1_5'UTR	p.S155S	NM_023008.3	NP_075384.3	1	2	3	2.010022	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)	6	484	-			Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	1	1	hg19	c.465G>A	CCDS12242.1	1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.379965	0.05000	.	.	ENSG00000129347	ENST00000543682	.	.	.	3.7	-2.84	0.05751	3.7	-2.84	0.05751	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-2.2623	5.8817	0.18858	0.0:0.4384:0.2387:0.3229	.	.	.	.	H	93	.	.	R	-	2	0	0	KRI1	10533384	10533384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.565000	0.00918	-0.676000	0.05238	-2.893000	0.00094	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	1	0	0		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000	NM_023008			180	176		729	713	1		1	1		0	0	189	0		1	1	0	26	0	97	0	180	729
SLC44A2	57153	broad.mit.edu	37	19	10746125	10746125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000335757.5	+	14	1543	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000407327.4_Silent_p.N387N|SLC44A2_ENST00000586078.1_Silent_p.N389N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552																																						ENST00000335757.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1165-1167)aaC>aaT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						140.0	144.0	142.0					19																	10746125		2203	4300	6503	SO:0001819	synonymous_variant	57153	2	121412	40				g.chr19:10746125C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1167C>T	chr19.hg19:g.10746125C>T		0					SLC44A2_ENST00000586078.1_Silent_p.N389N|SLC44A2_ENST00000407327.4_Silent_p.N387N	p.N389N			1	2	3	2.010022	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)	14	1543	+			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	1	1	hg19	c.1167C>T	CCDS12245.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000				127	125		610	601	0		1	1		0	0	156	0		1	1	0	27	0	193	0	127	610
SLC44A2	57153	broad.mit.edu	37	19	10748582	10748582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000335757.5	+	18	2122	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000586078.1_Silent_p.F582F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	582					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572																																						ENST00000335757.5	1.000000	0.870000	1	9.800000e-01	0.990000	0.988554	0.990000	1.000000																										0				27						c.(1744-1746)ttC>ttT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						146.0	131.0	136.0					19																	10748582		2203	4300	6503	SO:0001819	synonymous_variant	57153	0	0					g.chr19:10748582C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1746C>T	chr19.hg19:g.10748582C>T		0					SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Silent_p.F582F|SLC44A2_ENST00000407327.4_Silent_p.F580F	p.F582F			1	2	3	2.010022	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)	18	2122	+			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	1	1	hg19	c.1746C>T	CCDS12245.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1	1	0	1		2	2	2	0		0	0	132		132	129	1	2.060000	-3.318794	1	0.170000				75	73		737	719	0		1	1		0	0	132	0		1	1	0	29	0	329	0	75	737
ILF3	3609	broad.mit.edu	37	19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000590261.1	+	2	34	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	12	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)			GAATGATGACCGCCATGTGAT	0.468																																						ENST00000590261.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				31						c.(34-36)Cgc>Tgc		interleukin enhancer binding factor 3, 90kDa							64.0	57.0	59.0					19																	10781680		2203	4300	6503	SO:0001583	missense	3609	0	0					g.chr19:10781680C>T	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.34C>T	chr19.hg19:g.10781680C>T	ENSP00000468156:p.Arg12Cys	0					ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C	p.R12C			1	2	3	2.010022	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)	2	34	+			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	1	1	hg19	c.34C>T	CCDS12246.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978781	0.92982	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.64800	0.2631	M	0.89601	3.045	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	0.989;0.976;0.998;0.994;0.989	T	0.71133	-0.4681	10	0.87932	D	0	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	12;12;12;12;12	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	C	12	ENSP00000404121:R12C;ENSP00000315205:R12C;ENSP00000405436:R12C;ENSP00000384660:R12C;ENSP00000250241:R12C	ENSP00000250241:R12C	R	+	1	0	0	ILF3	10642680	10642680	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.459000	0.80802	2.932000	0.99384	0.643000	0.83706	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.269423	1	0.170000				23	23		102	102	1		1	1	0	0	0	39	0		9.999997e-01	1	0	63	0	162	1	23	102
ILF3	3609	broad.mit.edu	37	19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000590261.1	+	4	534	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	178	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)			TTGTCAGAGAAGAAATGGAGA	0.463																																						ENST00000590261.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(532-534)gaA>gaC		interleukin enhancer binding factor 3, 90kDa							90.0	82.0	85.0					19																	10787961		2203	4300	6503	SO:0001583	missense	3609	0	0					g.chr19:10787961A>C	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.534A>C	chr19.hg19:g.10787961A>C	ENSP00000468156:p.Glu178Asp	0					ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D	p.E178D			1	2	3	2.010022	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)	4	534	+			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	1	1	hg19	c.534A>C	CCDS12246.1	1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801770	0.70682	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	3.62	0.41486	5.7	3.62	0.41486	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.59436	1.845	0.53005	D	0.999969	D;D;P;D;D	0.71674	0.996;0.997;0.924;0.998;0.996	D;D;B;D;D	0.79108	0.987;0.992;0.421;0.99;0.987	T	0.54892	-0.8225	10	0.30078	T	0.28	.	9.0255	0.36227	0.847:0.0:0.153:0.0	.	178;178;178;178;178	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	178	ENSP00000404121:E178D;ENSP00000315205:E178D;ENSP00000405436:E178D;ENSP00000384660:E178D;ENSP00000250241:E178D	ENSP00000250241:E178D	E	+	3	2	2	ILF3	10648961	10648961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.971000	0.38288	0.528000	0.53228	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000				61	60		282	276	1		1	1		0	0	56	0		1	1	0	86	0	237	0	61	282
HMHA1	23526	broad.mit.edu	37	19	1080691	1080691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000313093.2	+	16	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000590577.1_Silent_p.K276K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	641					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GGGACTTTAAGAAGTTCGAGC	0.637																																						ENST00000313093.2	1.000000	0.500000	1	6.400000e-01	0.820000	0.816322	0.820000	1.000000																										0				16						c.(1921-1923)aaG>aaA		histocompatibility (minor) HA-1							42.0	47.0	45.0					19																	1080691		2202	4300	6502	SO:0001819	synonymous_variant	23526	0	0					g.chr19:1080691G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1923G>A	chr19.hg19:g.1080691G>A		0					HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000590577.1_Silent_p.K276K	p.K641K	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		16	2154	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	1	1	hg19	c.1923G>A	CCDS32863.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-19.994440	1	0.170000				18	18		251	245	0		1	1		0	0	54	0		9.999810e-01	8.440789e-01	0	2	0	47	0	18	251
HMHA1	23526	broad.mit.edu	37	19	1081636	1081636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	ENST00000313093.2	+	18	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	760					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCAGCTGTTCGGCCAGGACTT	0.677																																						ENST00000313093.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.993119	0.990000	1.000000																										0				16						c.(2278-2280)Ggc>Agc		histocompatibility (minor) HA-1							6.0	8.0	7.0					19																	1081636		2147	4220	6367	SO:0001583	missense	23526	0	0					g.chr19:1081636G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2278G>A	chr19.hg19:g.1081636G>A	ENSP00000316772:p.Gly760Ser	0					HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S	p.G760S	NM_012292.3	NP_036424.2	1	2	3	2.010022	Q92619	HMHA1_HUMAN		18	2509	+		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)	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	0	1	hg19	c.2278G>A	CCDS32863.1	1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.684633	0.88639	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.37584	1.21;1.23;1.22;1.19	4.4	4.4	0.53042	4.4	4.4	0.53042	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.86953	2.85	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;0.995;1.0;0.999	T	0.74084	-0.3779	10	0.87932	D	0	-34.3441	15.9856	0.80151	0.0:0.0:1.0:0.0	.	628;776;395;643;760	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	S	776;760;760;628;754;643	ENSP00000439601:G776S;ENSP00000316772:G760S;ENSP00000445109:G628S;ENSP00000438979:G643S	ENSP00000316772:G760S	G	+	1	0	0	HMHA1	1032636	1032636	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	9.114000	0.94329	1.993000	0.58246	0.550000	0.68814	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-16.576450	1	0.170000				8	8		41	40	0		1	1		0	0	9	0		9.906799e-01	8.780486e-01	0	2	0	20	0	8	41
ILF3	3609	broad.mit.edu	37	19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000590261.1	+	14	1777	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ILF3_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	593					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)			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)			CCCTGACACCCCTCTCGCCCT	0.542																																						ENST00000590261.1	1.000000	0.680000	1	8.200000e-01	0.980000	0.930130	0.980000	1.000000																										0				31						c.(1777-1779)Cct>Tct		interleukin enhancer binding factor 3, 90kDa							76.0	78.0	77.0					19																	10794144		2203	4300	6503	SO:0001583	missense	3609	0	0					g.chr19:10794144C>T	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.1777C>T	chr19.hg19:g.10794144C>T	ENSP00000468156:p.Pro593Ser	0					ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S|ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S	p.P593S			1	2	3	2.010022	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)	14	1777	+			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	1	1	hg19	c.1777C>T	CCDS12246.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734553	0.30774	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15952	2.44;2.44;2.38;2.38;2.38	5.75	4.7	0.59300	5.75	4.7	0.59300	.	0.255835	0.39909	N	0.001228	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B	0.29136	0.041;0.234;0.15;0.008;0.012;0.001	B;B;B;B;B;B	0.20184	0.008;0.028;0.012;0.006;0.019;0.004	T	0.21211	-1.0252	10	0.46703	T	0.11	.	12.7548	0.57328	0.2987:0.7013:0.0:0.0	.	597;597;593;597;593;593	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	593;597;593;593;597;593	ENSP00000404121:P597S;ENSP00000315205:P593S;ENSP00000405436:P593S;ENSP00000384660:P597S;ENSP00000250241:P593S	ENSP00000250241:P593S	P	+	1	0	0	ILF3	10655144	10655144	0.514000	0.26202	0.159000	0.22649	0.987000	0.75469	2.167000	0.42415	1.398000	0.46701	0.591000	0.81541	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.806910	1	0.170000				32	31		361	356	1		1	1		0	0	97	0		1	1	0	49	0	380	0	32	361
POLR2E	5434	broad.mit.edu	37	19	1089931	1089931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	173					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		CCCCCGCCTGGATCCTGGGCA	0.662																																						ENST00000215587.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(517-519)atC>atT		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							24.0	30.0	28.0					19																	1089931		2203	4299	6502	SO:0001819	synonymous_variant	5434	0	0					g.chr19:1089931G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.519C>T	chr19.hg19:g.1089931G>A		0					POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR	p.I173I			1	2	3	2.010022	P19388	RPAB1_HUMAN		6	802	-		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)	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	ENST00000215587.7	1	1	hg19	c.519C>T	CCDS12056.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_002695			35	35		174	172	0		1	1		0	0	31	0		1	1	0	259	0	657	0	35	174
DNM2	1785	broad.mit.edu	37	19	10893745	10893745	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000355667.6	+	6	878	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000314646.5_Silent_p.R266R|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000389253.4_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	266	Dynamin-type G.				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)			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)			CGGCCTACCGGCACATGGCCG	0.592			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000355667.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	1785	F, N, Splice, Mis, O	dynamin 2				L	L			ETP ALL		0				42						c.(796-798)cgG>cgA		dynamin 2							76.0	56.0	63.0					19																	10893745		2203	4300	6503	SO:0001819	synonymous_variant	1785	0	0					g.chr19:10893745G>A		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.798G>A	chr19.hg19:g.10893745G>A		0					DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R|DNM2_ENST00000314646.5_Silent_p.R266R|DNM2_ENST00000585892.1_Silent_p.R266R|MIR4748_ENST00000578076.1_RNA	p.R266R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	1	2	3	2.010022	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)	6	878	+			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	1	1	hg19	c.798G>A	CCDS45968.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_004945			62	61		298	296	1		1	1		0	0	63	0		1	1	0	160	0	310	0	62	298
POLR2E	5434	broad.mit.edu	37	19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L|POLR2E_ENST00000585838.1_5'Flank			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	53					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		CGTGCGCCGCGGCCGCCCCTC	0.642																																						ENST00000215587.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(157-159)cCg>cTg		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							42.0	36.0	38.0					19																	1093977		2202	4300	6502	SO:0001583	missense	5434	1	121384	23				g.chr19:1093977G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.158C>T	chr19.hg19:g.1093977G>A	ENSP00000215587:p.Pro53Leu	0					POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L|POLR2E_ENST00000585838.1_5'Flank	p.P53L			1	2	3	2.010022	P19388	RPAB1_HUMAN		2	441	-		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)	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	1	1	hg19	c.158C>T	CCDS12056.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466162	0.84425	.	.	ENSG00000099817	ENST00000215587	T	0.43688	0.94	3.64	3.64	0.41730	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.78285	2.405	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.62148	-0.6915	10	0.36615	T	0.2	-7.8213	14.4829	0.67594	0.0:0.0:1.0:0.0	.	53	P19388	RPAB1_HUMAN	L	53	ENSP00000215587:P53L	ENSP00000215587:P53L	P	-	2	0	0	POLR2E	1044977	1044977	1.000000	0.71417	0.934000	0.37439	0.915000	0.54546	6.883000	0.75595	1.884000	0.54569	0.511000	0.50034	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	1	0	1		2	2	2	0		0	0	44		44	41	1	2.060000	-20.000000	1	0.170000	NM_002695			39	38		183	182	1		1	1		0	0	44	0		1	1	0	168	0	399	0	39	183
DNM2	1785	broad.mit.edu	37	19	10934554	10934554	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000355667.6	+	17	1952	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	624	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)			TCCGAGCTGGCGTCTACCCCG	0.662			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000355667.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	1785	F, N, Splice, Mis, O	dynamin 2				L	L			ETP ALL		0				42						c.(1870-1872)ggC>ggT		dynamin 2							53.0	45.0	48.0					19																	10934554		2203	4300	6503	SO:0001819	synonymous_variant	1785	2	121408	32				g.chr19:10934554C>T		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.1872C>T	chr19.hg19:g.10934554C>T		0					DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000585892.1_Silent_p.G624G	p.G624G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	1	2	3	2.010022	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)	17	1952	+			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	1	1	hg19	c.1872C>T	CCDS45968.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.686052	1	0.170000	NM_004945			57	57		224	218	1		1	1		0	0	55	0		1	1	0	237	0	439	0	57	224
DNM2	1785	broad.mit.edu	37	19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000355667.6	+	20	2515	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				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)			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)			ATCCCATCCCGGCCTGGACCC	0.697			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000355667.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	1785	F, N, Splice, Mis, O	dynamin 2				L	L			ETP ALL		0				42						c.(2434-2436)cGg>cAg		dynamin 2							69.0	72.0	71.0					19																	10940946		2203	4300	6503	SO:0001583	missense	1785	0	0					g.chr19:10940946G>A		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.2435G>A	chr19.hg19:g.10940946G>A	ENSP00000347890:p.Arg812Gln	0					DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q	p.R812Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	1	2	3	2.010022	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)	20	2515	+			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	1	1	hg19	c.2435G>A	CCDS45968.1	1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.008865	0.75046	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61040	0.14;0.14;0.14	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76183	0.3952	M	0.75615	2.305	0.47994	D	0.99956	D;P;D;D;D;D;D	0.76494	0.998;0.864;0.995;0.994;0.999;0.998;0.994	D;B;P;P;D;D;P	0.77557	0.99;0.114;0.647;0.885;0.975;0.945;0.885	T	0.79067	-0.1955	10	0.66056	D	0.02	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	Q	808;808;812;812;812	ENSP00000386192:R808Q;ENSP00000373905:R812Q;ENSP00000313164:R812Q	ENSP00000313164:R812Q	R	+	2	0	0	DNM2	10801946	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-3.134111	1	0.170000	NM_004945			204	198		865	847	1		1	1		0	0	173	0		1	1	0	191	0	399	0	204	865
CARM1	10498	broad.mit.edu	37	19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	156	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597																																						ENST00000327064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(466-468)Ctg>Atg		coactivator-associated arginine methyltransferase 1							106.0	75.0	86.0					19																	11019791		2203	4300	6503	SO:0001583	missense	10498	0	0					g.chr19:11019791C>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.466C>A	chr19.hg19:g.11019791C>A	ENSP00000325690:p.Leu156Met	0					CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	p.L156M	NM_199141.1	NP_954592.1	1	2	3	2.010022	Q86X55	CARM1_HUMAN		4	656	+			A6NN38	Missense_Mutation	SNP	ENST00000327064.4	1	1	hg19	c.466C>A	CCDS12250.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435501	0.83885	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.80183	2.485	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.52786	-0.8529	10	0.59425	D	0.04	-2.8926	12.3792	0.55297	0.0:0.9184:0.0:0.0816	.	156	Q86X55	CARM1_HUMAN	M	156	ENSP00000325690:L156M;ENSP00000340934:L156M	ENSP00000325690:L156M	L	+	1	2	2	CARM1	10880791	10880791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.593000	0.87608	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.025532	1	0.170000	XM_032719			52	52		249	242	1		1	1		0	0	65	0		1	1	0	57	0	90	0	52	249
CARM1	10498	broad.mit.edu	37	19	11024705	11024705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	274	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637																																						ENST00000327064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(820-822)caC>caT		coactivator-associated arginine methyltransferase 1							72.0	56.0	62.0					19																	11024705		2203	4300	6503	SO:0001819	synonymous_variant	10498	8	121392	39				g.chr19:11024705C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.822C>T	chr19.hg19:g.11024705C>T		0					CARM1_ENST00000344150.4_Silent_p.H274H	p.H274H	NM_199141.1	NP_954592.1	1	2	3	2.010022	Q86X55	CARM1_HUMAN		6	1012	+			A6NN38	Silent	SNP	ENST00000327064.4	1	1	hg19	c.822C>T	CCDS12250.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	XM_032719			31	30		104	103	1		1	1		0	0	29	0		1	1	0	46	0	75	0	31	104
YIPF2	78992	broad.mit.edu	37	19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000586748.1	-	8	941	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M|YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	257						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692																																						ENST00000586748.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(769-771)Ctg>Atg		Yip1 domain family, member 2							40.0	44.0	43.0					19																	11034236		2203	4298	6501	SO:0001583	missense	78992	0	0					g.chr19:11034236G>T	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.769C>A	chr19.hg19:g.11034236G>T	ENSP00000466055:p.Leu257Met	0					YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M	p.L257M			1	2	3	2.010022	Q9BWQ6	YIPF2_HUMAN		8	941	-				Missense_Mutation	SNP	ENST00000586748.1	1	1	hg19	c.769C>A	CCDS12251.1	1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052646	0.07362	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.58	-0.291	0.12843	4.58	-0.291	0.12843	.	0.819276	0.10936	N	0.617763	T	0.15955	0.0384	N	0.04508	-0.205	0.09310	N	1	B	0.20671	0.047	B	0.28465	0.09	T	0.27191	-1.0081	9	0.41790	T	0.15	.	4.2388	0.10638	0.0988:0.3781:0.3913:0.1319	.	257	Q9BWQ6	YIPF2_HUMAN	M	257	.	ENSP00000253031:L257M	L	-	1	2	2	YIPF2	10895236	10895236	0.000000	0.05858	0.005000	0.12908	0.104000	0.19210	-0.256000	0.08757	0.461000	0.27071	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_024029			74	74		294	291	1		1	1		0	0	70	0		1	1	0	112	0	246	0	74	294
SBNO2	22904	broad.mit.edu	37	19	1109544	1109544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000361757.3	-	28	3414	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_ENST00000438103.2_Silent_p.A1002A|SBNO2_ENST00000587024.1_Silent_p.A1049A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1059					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTCAGCGCCAGCGACT	0.731																																						ENST00000361757.3	1.000000	0.780000	1	9.900000e-01	0.990000	0.986089	0.990000	1.000000																										0				14						c.(3175-3177)gcG>gcA		strawberry notch homolog 2 (Drosophila)							7.0	9.0	8.0					19																	1109544		1863	4049	5912	SO:0001819	synonymous_variant	22904	0	0					g.chr19:1109544C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3177G>A	chr19.hg19:g.1109544C>T		0					SBNO2_ENST00000438103.2_Silent_p.A1002A|SBNO2_ENST00000587024.1_Silent_p.A1049A	p.A1059A	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		28	3414	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	0	1	hg19	c.3177G>A	CCDS45894.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-15.154820	1	0.170000	NM_014963			8	8		50	48	0		1	1		0	0	12	0		9.897169e-01	9.999999e-01	0	122	0	231	0	8	50
SBNO2	22904	broad.mit.edu	37	19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000361757.3	-	27	3354	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1039					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTTGTAGAAGACCACCT	0.682																																						ENST00000361757.3	1.000000	0.650000	1	8.300000e-01	0.990000	0.940123	0.990000	1.000000																										0				14						c.(3115-3117)ttC>ttA		strawberry notch homolog 2 (Drosophila)							35.0	41.0	39.0					19																	1109688		1903	4115	6018	SO:0001583	missense	22904	0	0					g.chr19:1109688G>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3117C>A	chr19.hg19:g.1109688G>T	ENSP00000354733:p.Phe1039Leu	0					SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L	p.F1039L	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		27	3354	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	1	1	hg19	c.3117C>A	CCDS45894.1	1	.	.	.	.	.	.	.	.	.	.	G	1.265	-0.614791	0.03663	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	0.536	0.17138	4.18	0.536	0.17138	.	0.115356	0.64402	N	0.000012	T	0.10337	0.0253	N	0.03029	-0.43	0.26794	N	0.969336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.02654	T	1	-21.3351	5.3231	0.15891	0.1923:0.1637:0.644:0.0	.	1039;982	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	1039;982;1057	.	ENSP00000250872:F1057L	F	-	3	2	2	SBNO2	1060688	1060688	0.830000	0.29337	1.000000	0.80357	0.602000	0.36980	-0.159000	0.10056	0.201000	0.20466	-0.379000	0.06801	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.999980	1	0.170000	NM_014963			18	18		189	185	0		1	1		0	0	33	0		9.999830e-01	1	0	40	0	325	0	18	189
YIPF2	78992	broad.mit.edu	37	19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A	rs199946753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000586748.1	-	7	725	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W|YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	185						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18061	0.001		0.0	False		,,,				2504	0.0					ENST00000586748.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				7						c.(553-555)Cgg>Tgg		Yip1 domain family, member 2		G	TRP/ARG	0,4402		0,0,2201	43.0	45.0	44.0		553	-0.6	0.8	19		44	1,8595	1.2+/-3.3	0,1,4297	no	missense	YIPF2	NM_024029.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	185/317	11034607	1,12997	2201	4298	6499	SO:0001583	missense	78992	17	121386	39				g.chr19:11034607G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.553C>T	chr19.hg19:g.11034607G>A	ENSP00000466055:p.Arg185Trp	0					YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W	p.R185W			1	2	3	2.010022	Q9BWQ6	YIPF2_HUMAN		7	725	-				Missense_Mutation	SNP	ENST00000586748.1	1	1	hg19	c.553C>T	CCDS12251.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.131	0.392309	0.11638	0.0	1.16E-4	ENSG00000130733	ENST00000253031	T	0.42131	0.98	5.61	-0.627	0.11541	5.61	-0.627	0.11541	Yip1 domain (1);	0.597682	0.18008	N	0.154655	T	0.26955	0.0660	L	0.38649	1.16	0.29600	N	0.847729	B	0.14012	0.009	B	0.10450	0.005	T	0.13415	-1.0510	10	0.33940	T	0.23	.	6.4344	0.21815	0.1359:0.0:0.5008:0.3633	.	185	Q9BWQ6	YIPF2_HUMAN	W	185	ENSP00000253031:R185W	ENSP00000253031:R185W	R	-	1	2	2	YIPF2	10895607	10895607	0.997000	0.39634	0.828000	0.32881	0.011000	0.07611	2.581000	0.46077	0.054000	0.16065	-2.177000	0.00319	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_024029			24	23		112	110	1		1	1		0	0	28	0		9.999998e-01	1	0	123	0	253	0	24	112
SMARCA4	6597	broad.mit.edu	37	19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000429416.3	+	10	1842	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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.?(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)				AGAGAACGAGCGGATCGAGAA	0.567			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	163						c.(1561-1563)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							142.0	111.0	121.0					19																	11105645		2203	4300	6503	SO:0001583	missense	6597	0	0					g.chr19:11105645C>T	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.1561C>T	chr19.hg19:g.11105645C>T	ENSP00000395654:p.Arg521Trp	0					SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W	p.R521W	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		10	1842	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	1	1	hg19	c.1561C>T	CCDS12253.1	1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680126	0.47886	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.46	-0.935	0.10423	4.46	-0.935	0.10423	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91612	3.225	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.994;0.987;0.999;0.999	T	0.79140	-0.1926	10	0.87932	D	0	-32.9408	15.4281	0.75069	0.8024:0.1976:0.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	521	ENSP00000395654:R521W;ENSP00000350720:R521W;ENSP00000343896:R521W;ENSP00000445036:R521W;ENSP00000392837:R521W;ENSP00000397783:R521W;ENSP00000414727:R521W	ENSP00000343896:R521W	R	+	1	2	2	SMARCA4	10966645	10966645	0.953000	0.32496	0.003000	0.11579	0.487000	0.33371	0.223000	0.17719	-0.191000	0.10448	-0.309000	0.09137	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003072			23	23		101	99	1		1	1	1	0	0	33	1010		9.999997e-01	9.999999e-01	1	52	223	87	802	23	101
SBNO2	22904	broad.mit.edu	37	19	1112468	1112468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000361757.3	-	21	2685	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000587024.1_Silent_p.N806N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	816					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGCTGGTTCTGGACAC	0.706																																						ENST00000361757.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999874	0.990000	1.000000																										0				14						c.(2446-2448)aaC>aaT		strawberry notch homolog 2 (Drosophila)							13.0	20.0	17.0					19																	1112468		2026	4147	6173	SO:0001819	synonymous_variant	22904	0	0					g.chr19:1112468G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2448C>T	chr19.hg19:g.1112468G>A		0					SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000587024.1_Silent_p.N806N	p.N816N	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		21	2685	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	1	1	hg19	c.2448C>T	CCDS45894.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_014963			18	18		80	79	0		1	1		0	0	24	0		9.999897e-01	1	0	56	0	107	0	18	80
SBNO2	22904	broad.mit.edu	37	19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000361757.3	-	21	2672	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	812					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACACGGCGGTCGGCTTG	0.706																																						ENST00000361757.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999595	0.990000	1.000000																										0				14						c.(2434-2436)cGc>cAc		strawberry notch homolog 2 (Drosophila)							12.0	19.0	17.0					19																	1112481		2012	4139	6151	SO:0001583	missense	22904	0	0					g.chr19:1112481C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2435G>A	chr19.hg19:g.1112481C>T	ENSP00000354733:p.Arg812His	0					SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H	p.R812H	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		21	2672	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	1	1	hg19	c.2435G>A	CCDS45894.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777001	0.90195	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.76316	-1.01;-1.01	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.060647	0.64402	D	0.000003	D	0.88325	0.6406	M	0.89095	3.005	0.31949	N	0.609907	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.89777	0.3958	10	0.56958	D	0.05	-25.5626	10.6635	0.45717	0.0:0.9113:0.0:0.0887	.	812;755	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	H	812;755;819	ENSP00000354733:R812H;ENSP00000400762:R755H	ENSP00000250872:R819H	R	-	2	0	0	SBNO2	1063481	1063481	0.999000	0.42202	0.901000	0.35422	0.840000	0.47671	3.834000	0.55798	2.265000	0.75225	0.448000	0.29417	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_014963			17	17		85	82	0		1	1		0	0	20	0		9.999739e-01	9.999999e-01	0	58	0	110	0	17	85
SBNO2	22904	broad.mit.edu	37	19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000361757.3	-	21	2637	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	800					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAGGCCTCCGAGATGA	0.701																																						ENST00000361757.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997059	0.990000	1.000000																										0				14						c.(2398-2400)gaG>gaT		strawberry notch homolog 2 (Drosophila)							13.0	18.0	17.0					19																	1112516		2013	4158	6171	SO:0001583	missense	22904	0	0					g.chr19:1112516C>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2400G>T	chr19.hg19:g.1112516C>A	ENSP00000354733:p.Glu800Asp	0					SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D	p.E800D	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		21	2637	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	0	1	hg19	c.2400G>T	CCDS45894.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.203957	0.95033	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.17345	0.48	0.45995	D	0.998807	P;P	0.44429	0.835;0.802	P;P	0.49637	0.617;0.482	T	0.67011	-0.5778	10	0.36615	T	0.2	-35.3467	17.03	0.86458	0.0:1.0:0.0:0.0	.	800;743	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	D	800;743;807	ENSP00000354733:E800D;ENSP00000400762:E743D	ENSP00000250872:E807D	E	-	3	2	2	SBNO2	1063516	1063516	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	2.265000	0.75225	0.448000	0.29417	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-19.999940	1	0.170000	NM_014963			14	14		84	81	0		1	1		0	0	13	0		9.997881e-01	9.999818e-01	0	45	0	85	0	14	84
SMARCA4	6597	broad.mit.edu	37	19	11107017	11107017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000429416.3	+	11	2003	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	574					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.?(3)		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)				ACAAGGCTGCCCAGGTCGCCa	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		3	Unknown(3)	p.?(3)	lung(2)|prostate(1)	163						c.(1720-1722)gcC>gcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							80.0	75.0	77.0					19																	11107017		2203	4300	6503	SO:0001819	synonymous_variant	6597	0	0					g.chr19:11107017C>A	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.1722C>A	chr19.hg19:g.11107017C>A		0					SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	p.A574A	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		11	2003	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	1	1	hg19	c.1722C>A	CCDS12253.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-3.267810	1	0.170000	NM_003072			118	117		492	488	1		1	1	1	0	0	129	1070		1	1	1	36	235	78	959	118	492
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000429416.3	+	21	3213	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					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.?(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)				CTTCTTGCTCCGACGACTCAA	0.572			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	163						c.(2932-2934)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							56.0	51.0	53.0					19																	11134266		2202	4300	6502	SO:0001587	stop_gained	6597	0	0					g.chr19:11134266C>T	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.2932C>T	chr19.hg19:g.11134266C>T	ENSP00000395654:p.Arg978*	0					SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*	p.R978*	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		21	3213	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	0	1	hg19	c.2932C>T	CCDS12253.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.271704	0.98737	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.9	3.82	0.43975	4.9	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8503	12.3162	0.54958	0.2155:0.7845:0.0:0.0	.	.	.	.	X	978;978;1042;978;978;978;978;978	.	ENSP00000343896:R978X	R	+	1	2	2	SMARCA4	10995266	10995266	0.036000	0.19791	1.000000	0.80357	0.978000	0.69477	0.328000	0.19681	2.542000	0.85734	0.655000	0.94253	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.197606	1	0.170000	NM_003072			21	21		85	85	0		1	1	1	0	0	21	744		9.999989e-01	9.999997e-01	1	10	168	108	690	21	85
SMARCA4	6597	broad.mit.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.R1243W(3)|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)				CAGCCATGAGCGGCGCGCCTT	0.637			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.270000	5.400000e-01	3.400000e-01	0.420000	0.470533	0.420000	0.400000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		4	Substitution - Missense(3)|Unknown(1)	p.R1243W(3)|p.?(1)	kidney(2)|lung(1)|central_nervous_system(1)	163						c.(3727-3729)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							86.0	86.0	86.0					19																	11144146		2203	4300	6503	SO:0001583	missense	6597	0	0					g.chr19:11144146C>T	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.3727C>T	chr19.hg19:g.11144146C>T	ENSP00000395654:p.Arg1243Trp	0					SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	p.R1243W	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		27	4008	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	1	1	hg19	c.3727C>T	CCDS12253.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	0|2	SMARCA4|SMARCA4	11005146|11005146	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	1		2	2	2	0		0	0	122		122	114	1	2.060000	-3.659201	1	0.170000	NM_003072			24	24		669	651	1		1	1	1	0	0	122	891		9.999995e-01	9.457177e-01	1	16	32	121	916	24	669
SMARCA4	6597	broad.mit.edu	37	19	11152114	11152114	+	Silent	SNP	C	C	T	rs146747026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000429416.3	+	31	4583	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000358026.2_Silent_p.D1466D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1434					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.?(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)				GCGACAAGGACGACGAGAGCA	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	163						c.(4300-4302)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		C	,,,,,,	0,4404		0,0,2202	43.0	47.0	46.0		4302,4212,4212,4203,4203,4398,4302	-3.7	1.0	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	1434/1648,1404/1618,1404/1617,1401/1615,1401/1614,1466/1680,1434/1648	11152114	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6597	11	121358	41				g.chr19:11152114C>T	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.4302C>T	chr19.hg19:g.11152114C>T		0					SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000358026.2_Silent_p.D1466D|SMARCA4_ENST00000589677.1_Silent_p.D1404D	p.D1434D	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		31	4583	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	1	1	hg19	c.4302C>T	CCDS12253.1	1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223480	0.22457	0.0	1.16E-4	ENSG00000127616	ENST00000538456	.	.	.	4.44	-3.66	0.04489	4.44	-3.66	0.04489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.7996	6.6399	0.22903	0.0:0.3788:0.126:0.4952	.	.	.	.	X	206	.	.	R	+	1	2	2	SMARCA4	11013114	11013114	0.000000	0.05858	0.987000	0.45799	0.959000	0.62525	-1.961000	0.01516	-0.370000	0.08016	-0.363000	0.07495	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	1		2	2	9	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_003072			44	39		179	175	1		1	1	1	0	3	39	2157		1	1	1	74	452	113	1726	44	179
SMARCA4	6597	broad.mit.edu	37	19	11170476	11170476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	ENST00000429416.3	+	34	4964	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000589677.1_Silent_p.R1530R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000358026.2_Silent_p.R1593R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1561					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.?(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)				CCAGCGTGCGGCAGAAAATCg	0.602			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	163						c.(4681-4683)cgG>cgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51.0	43.0	46.0					19																	11170476		2203	4300	6503	SO:0001819	synonymous_variant	6597	0	0					g.chr19:11170476G>A	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.4683G>A	chr19.hg19:g.11170476G>A		0					SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000358026.2_Silent_p.R1593R|SMARCA4_ENST00000589677.1_Silent_p.R1530R	p.R1561R	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		34	4964	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	0	1	hg19	c.4683G>A	CCDS12253.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	0		2	2	8	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_003072			20	20		85	85	0		1	1	1	0	1	12	1838		9.999978e-01	1	1	49	259	138	1607	20	85
SBNO2	22904	broad.mit.edu	37	19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000361757.3	-	14	1678	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	481					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGAGCTGGCGTGCG	0.672																																						ENST00000361757.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1441-1443)Ctc>Atc		strawberry notch homolog 2 (Drosophila)							34.0	43.0	40.0					19																	1119096		2196	4291	6487	SO:0001583	missense	22904	0	0					g.chr19:1119096G>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1441C>A	chr19.hg19:g.1119096G>T	ENSP00000354733:p.Leu481Ile	0					SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I	p.L481I	NM_014963.2	NP_055778.2	1	2	3	2.010022	Q9Y2G9	SBNO2_HUMAN		14	1678	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	1	1	hg19	c.1441C>A	CCDS45894.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903094	0.92035	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	3.89	0.44902	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.982	D	0.87589	0.2489	9	0.72032	D	0.01	-29.7548	15.375	0.74598	0.0:0.0:1.0:0.0	.	481;481;424	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	I	481;424;505	.	ENSP00000250872:L505I	L	-	1	0	0	SBNO2	1070096	1070096	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.421000	0.97455	2.160000	0.67779	0.462000	0.41574	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014963			23	23		64	62	1		1	1		0	0	11	0		9.999998e-01	1	0	64	0	173	0	23	64
SMARCA4	6597	broad.mit.edu	37	19	11170509	11170509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000429416.3	+	34	4997	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000589677.1_Silent_p.G1541G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000358026.2_Silent_p.G1604G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1572	Poly-Glu.				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.?(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)				acagtgaaggcgaggagagtg	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000429416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19p13.2	19p13.2	6597	F, N, Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""				E	E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	163						c.(4714-4716)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51.0	45.0	47.0					19																	11170509		2203	4300	6503	SO:0001819	synonymous_variant	6597	0	0					g.chr19:11170509C>T	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.4716C>T	chr19.hg19:g.11170509C>T		0					SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000358026.2_Silent_p.G1604G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	p.G1572G	NM_001128844.1	NP_001122316.1	1	2	3	2.010022	P51532	SMCA4_HUMAN		34	4997	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	1	1	hg19	c.4716C>T	CCDS12253.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	0		2	2	6	0		0	0	22		22	21	1	2.060000	-3.787297	1	0.170000	NM_003072			38	35		134	134	1		1	1	1	0	1	22	1978		1	1	1	9	274	113	1664	38	134
KANK2	25959	broad.mit.edu	37	19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	rs144821191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000586659.1	-	4	1452	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000355150.5_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000432929.2_Missense_Mutation_p.R380C			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	380					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16197	0.0		0.001	False		,,,				2504	0.0					ENST00000586659.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1138-1140)Cgc>Tgc		KN motif and ankyrin repeat domains 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	72.0		1138,1138	0.2	1.0	19	dbSNP_134	72	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	180,180	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	benign,benign	380/852,380/860	11303618	11,12995	2203	4300	6503	SO:0001583	missense	25959	53	121412	48				g.chr19:11303618G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1138C>T	chr19.hg19:g.11303618G>A	ENSP00000465650:p.Arg380Cys	0					KANK2_ENST00000432929.2_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C	p.R380C			1	2	3	2.010022	Q63ZY3	KANK2_HUMAN		4	1452	-			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	1	1	hg19	c.1138C>T	CCDS12255.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.976	0.550018	0.13374	2.27E-4	0.001163	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37235	1.21;1.21	4.11	0.147	0.14838	4.11	0.147	0.14838	.	0.085848	0.43747	D	0.000540	T	0.24774	0.0601	L	0.45581	1.43	0.33354	D	0.571462	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.06405	0.002;0.0;0.002	T	0.10474	-1.0628	10	0.37606	T	0.19	-34.2083	5.155	0.15031	0.305:0.0:0.546:0.149	.	380;380;380	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	C	380	ENSP00000395650:R380C;ENSP00000347276:R380C	ENSP00000347276:R380C	R	-	1	0	0	KANK2	11164618	11164618	0.023000	0.18921	0.998000	0.56505	0.366000	0.29705	0.248000	0.18198	0.224000	0.20940	-0.448000	0.05591	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	1	0	1		15	2	2	0		0	1	91		91	90	1	2.060000	-2.895822	1	0.170000	NM_015493			69	69		310	304	1		1	1		0	0	91	0		1	9.999760e-01	0	6	0	66	0	69	310
KANK2	25959	broad.mit.edu	37	19	11303796	11303796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000586659.1	-	4	1274	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000355150.5_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000432929.2_Silent_p.P320P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	320					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726																																						ENST00000586659.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.996884	0.990000	1.000000																										0				14						c.(958-960)ccG>ccA		KN motif and ankyrin repeat domains 2							7.0	9.0	8.0					19																	11303796		2142	4154	6296	SO:0001819	synonymous_variant	25959	1	119736	14				g.chr19:11303796C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.960G>A	chr19.hg19:g.11303796C>T		0					KANK2_ENST00000432929.2_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P	p.P320P			1	2	3	2.010022	Q63ZY3	KANK2_HUMAN		4	1274	-			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	0	1	hg19	c.960G>A	CCDS12255.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_015493			20	19		139	135	0		1	0		0	0	22	0		9.999957e-01	2.815851e-01	0	0	0	8	0	20	139
DOCK6	57572	broad.mit.edu	37	19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T	rs558654486	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1340					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17186	0.0		0.0	False		,,,				2504	0.0					ENST00000294618.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				39						c.(4018-4020)cGt>cAt		dedicator of cytokinesis 6							111.0	109.0	109.0					19																	11326479		1997	4168	6165	SO:0001583	missense	57572	4	120926	37				g.chr19:11326479C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4019G>A	chr19.hg19:g.11326479C>T	ENSP00000294618:p.Arg1340His	0					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H	p.R1340H	NM_020812.3	NP_065863.2	1	2	3	2.010022	Q96HP0	DOCK6_HUMAN		31	4030	-			A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	1	1	hg19	c.4019G>A	CCDS45975.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012642	0.93346	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02863	4.13;4.13	5.29	4.23	0.50019	5.29	4.23	0.50019	.	0.068952	0.56097	D	0.000035	T	0.11922	0.0290	M	0.72118	2.19	0.53005	D	0.999962	D;P	0.60160	0.987;0.951	P;P	0.61722	0.893;0.677	T	0.00832	-1.1548	10	0.66056	D	0.02	-15.8247	14.0834	0.64939	0.1521:0.8479:0.0:0.0	.	679;1340	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1340;679	ENSP00000294618:R1340H;ENSP00000321556:R679H	ENSP00000294618:R1340H	R	-	2	0	0	DOCK6	11187479	11187479	1.000000	0.71417	0.680000	0.29994	0.821000	0.46438	7.524000	0.81866	1.416000	0.47057	0.591000	0.81541	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-19.999950	1	0.170000	NM_020812			53	52		314	305	1		1	1		0	0	82	0		1	9.997212e-01	0	3	0	71	0	53	314
DOCK6	57572	broad.mit.edu	37	19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	213					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652																																						ENST00000294618.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				39						c.(637-639)Gaa>Taa		dedicator of cytokinesis 6							32.0	37.0	35.0					19																	11361633		1925	4115	6040	SO:0001587	stop_gained	57572	0	0					g.chr19:11361633C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.637G>T	chr19.hg19:g.11361633C>A	ENSP00000294618:p.Glu213*	0						p.E213*	NM_020812.3	NP_065863.2	1	2	3	2.010022	Q96HP0	DOCK6_HUMAN		6	648	-			A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	0	1	hg19	c.637G>T	CCDS45975.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635450	0.87760	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.114392	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.955	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000294618:E213X	E	-	1	0	0	DOCK6	11222633	11222633	1.000000	0.71417	0.443000	0.26883	0.074000	0.17049	7.185000	0.77714	2.250000	0.74265	0.462000	0.41574	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_020812			37	37		195	190	1		1	1		0	0	28	0		1	9.973662e-01	0	5	0	46	0	37	195
RAB3D	9545	broad.mit.edu	37	19	11436108	11436108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	ENST00000222120.3	-	5	886	c.626C>A	c.(625-627)gCt>gAt	p.A209D	TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|CTC-510F12.6_ENST00000586051.1_RNA|CTC-510F12.4_ENST00000586356.1_RNA	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	209					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGGGCTGGAGCATCCCCCAC	0.667																																						ENST00000222120.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(625-627)gCt>gAt		RAB3D, member RAS oncogene family							26.0	25.0	25.0					19																	11436108		2203	4300	6503	SO:0001583	missense	9545	0	0					g.chr19:11436108G>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.626C>A	chr19.hg19:g.11436108G>T	ENSP00000222120:p.Ala209Asp	0					CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000316737.1_Intron	p.A209D	NM_004283.3	NP_004274.1	1	2	3	2.010022	O95716	RAB3D_HUMAN		5	886	-				Missense_Mutation	SNP	ENST00000222120.3	0	1	hg19	c.626C>A	CCDS12257.1	1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000105514	ENST00000222120	T	0.62788	0.0	5.05	4.02	0.46733	5.05	4.02	0.46733	.	0.702320	0.13155	N	0.409570	T	0.40815	0.1132	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.21999	-1.0229	10	0.23891	T	0.37	.	10.7626	0.46274	0.0896:0.0:0.9104:0.0	.	209	O95716	RAB3D_HUMAN	D	209	ENSP00000222120:A209D	ENSP00000222120:A209D	A	-	2	0	0	RAB3D	11297108	11297108	0.016000	0.18221	0.003000	0.11579	0.593000	0.36681	1.842000	0.39250	1.362000	0.46000	0.455000	0.32223	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_004283			34	34		112	111	0		1	1		0	0	24	0		1	9.257040e-01	0	3	0	14	0	34	112
RAB3D	9545	broad.mit.edu	37	19	11447893	11447893	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	61					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGACGGTCTTGACCTTGAAAT	0.572																																						ENST00000222120.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(181-183)gtC>gtT		RAB3D, member RAS oncogene family							237.0	211.0	220.0					19																	11447893		2203	4300	6503	SO:0001819	synonymous_variant	9545	0	0					g.chr19:11447893G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.183C>T	chr19.hg19:g.11447893G>A		0					RAB3D_ENST00000589655.1_Silent_p.V61V	p.V61V	NM_004283.3	NP_004274.1	1	2	3	2.010022	O95716	RAB3D_HUMAN		2	443	-				Silent	SNP	ENST00000222120.3	1	1	hg19	c.183C>T	CCDS12257.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	1	0	1		2	2	2	0		0	0	291		291	288	1	2.060000	-20.000000	1	0.170000	NM_004283			272	262		1140	1103	1		1	1		0	0	291	0		1	9.981822e-01	0	10	0	31	0	272	1140
CCDC159	126075	broad.mit.edu	37	19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	DKFZP761J1410_ENST00000251473.5_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F|DKFZP761J1410_ENST00000591608.1_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652																																						ENST00000588790.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997553	0.990000	1.000000																										0				5						c.(847-849)tCc>tTc		coiled-coil domain containing 159							32.0	40.0	38.0					19																	11465331		2192	4293	6485	SO:0001583	missense	126075	0	0					g.chr19:11465331C>T	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.848C>T	chr19.hg19:g.11465331C>T	ENSP00000468232:p.Ser283Phe	0					DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F|DKFZP761J1410_ENST00000251473.5_5'Flank	p.S283F			1	2	3	2.010022	P0C7I6	CC159_HUMAN		12	1295	+			B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	0	1	hg19	c.848C>T	CCDS45976.1	1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758685	0.49468	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.53206	0.63	3.1	-0.664	0.11406	3.1	-0.664	0.11406	.	.	.	.	.	T	0.44746	0.1308	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.002	P;B	0.53649	0.731;0.003	T	0.33904	-0.9850	9	0.72032	D	0.01	.	3.0227	0.06080	0.0:0.4741:0.237:0.2889	.	398;283	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	283;398	ENSP00000402239:S283F	ENSP00000390400:S398F	S	+	2	0	0	CCDC159	11326331	11326331	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.499000	0.06413	0.182000	0.20032	-0.339000	0.08088	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.984940	1	0.170000	NM_001080503			12	12		64	62	1		1	1		0	0	14	0		9.992687e-01	9.979121e-01	0	14	0	48	0	12	64
EPOR	2057	broad.mit.edu	37	19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000222139.6	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000592375.2_Missense_Mutation_p.T114M	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	114					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GAAGCTCGACGTGTCGGCTGT	0.622																																						ENST00000222139.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(340-342)aCg>aTg		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)						60.0	53.0	55.0					19																	11492692		2203	4300	6503	SO:0001583	missense	2057	0	0					g.chr19:11492692G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.341C>T	chr19.hg19:g.11492692G>A	ENSP00000222139:p.Thr114Met	0					EPOR_ENST00000592375.2_Missense_Mutation_p.T114M	p.T114M	NM_000121.3	NP_000112.1	1	2	3	2.010022	P19235	EPOR_HUMAN		3	445	-			B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	1	1	hg19	c.341C>T	CCDS12260.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090546	0.76756	.	.	ENSG00000187266	ENST00000222139	D	0.84516	-1.86	4.18	4.18	0.49190	4.18	4.18	0.49190	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.410322	0.20505	N	0.091004	D	0.86636	0.5980	L	0.57536	1.79	0.28431	N	0.917265	D	0.63046	0.992	P	0.52710	0.707	T	0.81512	-0.0899	10	0.49607	T	0.09	.	12.3535	0.55161	0.0:0.0:1.0:0.0	.	114	P19235	EPOR_HUMAN	M	114	ENSP00000222139:T114M	ENSP00000222139:T114M	T	-	2	0	0	EPOR	11353692	11353692	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.100000	0.64560	2.074000	0.62210	0.305000	0.20034	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				78	77		252	248	1		1	1		0	0	53	0		1	8.984477e-01	0	3	0	12	0	78	252
EPOR	2057	broad.mit.edu	37	19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000222139.6	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000592375.2_Missense_Mutation_p.R92C	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	92					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TGGTGCAGGCGACACAGCTTC	0.672																																						ENST00000222139.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(274-276)Cgc>Tgc		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)						32.0	34.0	33.0					19																	11492759		2203	4299	6502	SO:0001583	missense	2057	0	0					g.chr19:11492759G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.274C>T	chr19.hg19:g.11492759G>A	ENSP00000222139:p.Arg92Cys	0					EPOR_ENST00000592375.2_Missense_Mutation_p.R92C	p.R92C	NM_000121.3	NP_000112.1	1	2	3	2.010022	P19235	EPOR_HUMAN		3	378	-			B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	1	1	hg19	c.274C>T	CCDS12260.1	1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603898	0.66445	.	.	ENSG00000187266	ENST00000222139	D	0.83755	-1.76	3.65	-3.63	0.04529	3.65	-3.63	0.04529	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.627053	0.15001	N	0.286114	T	0.75796	0.3898	L	0.47716	1.5	0.18873	N	0.999987	D	0.55172	0.97	P	0.46885	0.53	T	0.69518	-0.5124	10	0.54805	T	0.06	-15.8409	7.3652	0.26768	0.0:0.1431:0.2483:0.6086	.	92	P19235	EPOR_HUMAN	C	92	ENSP00000222139:R92C	ENSP00000222139:R92C	R	-	1	0	0	EPOR	11353759	11353759	0.009000	0.17119	0.181000	0.23098	0.421000	0.31385	0.161000	0.16481	-0.322000	0.08615	0.305000	0.20034	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	0		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000				55	53		176	174	1		1	1		0	0	33	0		1	9.339590e-01	0	4	0	13	0	55	176
CCDC151	115948	broad.mit.edu	37	19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000356392.4	-	8	1166	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	360										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGACCTTGCCAAAGATCAC	0.672																																						ENST00000356392.4	1.000000	0.320000	6.500000e-01	4.000000e-01	0.500000	0.546365	0.500000	0.490000																										0				12						c.(1078-1080)gGc>gAc		coiled-coil domain containing 151							78.0	84.0	82.0					19																	11534583		2181	4270	6451	SO:0001583	missense	115948	0	0					g.chr19:11534583C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1079G>A	chr19.hg19:g.11534583C>T	ENSP00000348757:p.Gly360Asp	0					CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	p.G360D	NM_145045.4	NP_659482.3	1	2	3	2.010022	A5D8V7	CC151_HUMAN		8	1166	-			B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	1	1	hg19	c.1079G>A	CCDS42501.1	0	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483272	0.12581	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.85258	-1.96;-1.96	4.24	1.98	0.26296	4.24	1.98	0.26296	.	0.451517	0.22002	N	0.065987	T	0.68851	0.3046	N	0.22421	0.69	0.30711	N	0.749307	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55964	-0.8057	10	0.14252	T	0.57	-22.3144	5.0199	0.14356	0.0:0.639:0.0:0.361	.	360;360;340	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	306;360;339	ENSP00000442987:G306D;ENSP00000348757:G360D	ENSP00000348757:G360D	G	-	2	0	0	CCDC151	11395583	11395583	0.890000	0.30428	0.934000	0.37439	0.953000	0.61014	0.280000	0.18790	0.995000	0.38917	-0.424000	0.05967	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	0	0	0		2	2	2	0		0	0	80		80	79	1	2.060000	-19.997900	1	0.170000	NM_145045			24	25		555	549	0		1	0		0	0	80	0		9.999996e-01	5.551117e-03	0	0	0	3	0	24	555
CCDC151	115948	broad.mit.edu	37	19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000356392.4	-	8	1058	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662																																						ENST00000356392.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(970-972)cGc>cAc		coiled-coil domain containing 151							103.0	114.0	110.0					19																	11534691		2144	4253	6397	SO:0001583	missense	115948	0	0					g.chr19:11534691C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.971G>A	chr19.hg19:g.11534691C>T	ENSP00000348757:p.Arg324His	0					CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	p.R324H	NM_145045.4	NP_659482.3	1	2	3	2.010022	A5D8V7	CC151_HUMAN		8	1058	-			B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	1	1	hg19	c.971G>A	CCDS42501.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657951	0.67586	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83755	-1.76;-1.76	3.63	3.63	0.41609	3.63	3.63	0.41609	.	0.605905	0.15707	N	0.248624	D	0.88548	0.6466	M	0.70595	2.14	0.36641	D	0.876856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65773	0.938;0.938;0.938	D	0.89946	0.4076	10	0.54805	T	0.06	-9.2471	10.9377	0.47255	0.0:1.0:0.0:0.0	.	324;324;304	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	H	270;324;303	ENSP00000442987:R270H;ENSP00000348757:R324H	ENSP00000348757:R324H	R	-	2	0	0	CCDC151	11395691	11395691	0.981000	0.34729	0.608000	0.28969	0.013000	0.08279	1.889000	0.39718	2.014000	0.59158	0.491000	0.48974	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	1	0	1		2	2	2	0		0	0	177		177	174	1	2.060000	-3.251708	1	0.170000	NM_145045			189	182		854	832	1		1	0		0	0	177	0		1	3.313665e-02	0	0	0	2	0	189	854
PRKCSH	5589	broad.mit.edu	37	19	11557939	11557939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000589838.1	+	9	813	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000252455.2_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	271	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCTACGACCGCGTCTGGGCCG	0.637											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000589838.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(811-813)cgC>cgT		protein kinase C substrate 80K-H							91.0	76.0	81.0					19																	11557939		2203	4300	6503	SO:0001819	synonymous_variant	5589	1	121410	31				g.chr19:11557939C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.813C>T	chr19.hg19:g.11557939C>T		0		OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000252455.2_Silent_p.R271R	p.R271R			1	2	3	2.010022	P14314	GLU2B_HUMAN		9	813	+			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	1	1	hg19	c.813C>T	CCDS32911.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				73	71		281	279	1		1	1		0	0	74	0		1	1	0	188	0	615	0	73	281
PRKCSH	5589	broad.mit.edu	37	19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000589838.1	+	16	1444	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	482					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCCCCAGGTGCGCCTCCTGTG	0.692																																						ENST00000589838.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1444-1446)Cgc>Tgc		protein kinase C substrate 80K-H							51.0	46.0	48.0					19																	11560084		2203	4300	6503	SO:0001583	missense	5589	0	0					g.chr19:11560084C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1444C>T	chr19.hg19:g.11560084C>T	ENSP00000465461:p.Arg482Cys	0					PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C	p.R482C			1	2	3	2.010022	P14314	GLU2B_HUMAN		16	1444	+			A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	1	1	hg19	c.1444C>T	CCDS32911.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921617	0.52653	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77229	-1.08;-1.08	3.46	2.3	0.28687	3.46	2.3	0.28687	Mannose-6-phosphate receptor, binding (1);	0.293432	0.28493	N	0.015158	T	0.80292	0.4596	L	0.52011	1.625	0.44762	D	0.997761	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.65874	0.939;0.939;0.86;0.939	T	0.77608	-0.2524	10	0.38643	T	0.18	-25.7659	8.2518	0.31730	0.4322:0.5678:0.0:0.0	.	489;489;479;482	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	C	482;479	ENSP00000252455:R482C;ENSP00000395616:R479C	ENSP00000252455:R482C	R	+	1	0	0	PRKCSH	11421084	11421084	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.509000	0.45459	1.928000	0.55862	0.563000	0.77884	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				78	76		410	402	1		1	1		0	0	58	0		1	1	0	330	0	781	0	78	410
ELAVL3	1995	broad.mit.edu	37	19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627																																						ENST00000359227.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(628-630)aCg>aTg		ELAV like neuron-specific RNA binding protein 3							90.0	80.0	83.0					19																	11568960		2203	4300	6503	SO:0001583	missense	1995	0	0					g.chr19:11568960G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.629C>T	chr19.hg19:g.11568960G>A	ENSP00000352162:p.Thr210Met	0					ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	1	2	3	2.010022	Q14576	ELAV3_HUMAN		5	1053	-			Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	1	1	hg19	c.629C>T	CCDS32912.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047153	0.55110	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08720	3.36;3.06	4.95	3.89	0.44902	4.95	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.052555	0.85682	D	0.000000	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	B;B	0.31256	0.211;0.316	B;B	0.25987	0.048;0.065	T	0.07693	-1.0759	10	0.31617	T	0.26	.	13.5258	0.61594	0.0:0.0:0.8423:0.1577	.	210;210	Q14576;Q14576-2	ELAV3_HUMAN;.	M	210	ENSP00000352162:T210M;ENSP00000390878:T210M	ENSP00000352162:T210M	T	-	2	0	0	ELAVL3	11429960	11429960	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	9.395000	0.97266	1.068000	0.40764	0.478000	0.44815	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.437895	1	0.170000	NM_001420			85	83		372	367	1		1			0	0	60	0		1	0	0	0	0	0	0	85	372
ELOF1	84337	broad.mit.edu	37	19	11664626	11664626	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000252445.3	-	4	251		c.e4-1		ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000589171.1_Missense_Mutation_p.Q64H|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000586683.1_Intron	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.?(1)		endometrium(3)|lung(2)	5						TCTGACAGATCTGGGCCACTT	0.597																																						ENST00000252445.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Unknown(1)	p.?(1)	lung(1)	5						c.e4-1		elongation factor 1 homolog (S. cerevisiae)							93.0	86.0	88.0					19																	11664626		2203	4300	6503	SO:0001630	splice_region_variant	84337	0	0					g.chr19:11664626C>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"""elongation factor 1 homolog (ELF1, S. cerevisiae)"""			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.188-1G>T	chr19.hg19:g.11664626C>A		0					ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000589171.1_Missense_Mutation_p.Q64H|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site		NM_032377.3	NP_115753.1	1	2	3	2.010022	P60002	ELOF1_HUMAN		4	251	-			Q8R1J7|Q96II4	Splice_Site	SNP	ENST00000252445.3	1	0	hg19		CCDS12264.1	1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284702	0.10513	.	.	ENSG00000130165	ENST00000252445	.	.	.	4.9	1.52	0.23074	4.9	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2736	0.15638	0.162:0.6613:0.0:0.1767	.	.	.	.	.	-1	.	.	.	-	.	.	.	ELOF1	11525626	11525626	1.000000	0.71417	0.719000	0.30619	0.003000	0.03518	5.084000	0.64462	0.122000	0.18314	-0.277000	0.10078	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.639082	1	0.170000	NM_032377	Intron		82	81		318	315	0		1	1		0	0	97	0		1	9.999940e-01	0	65	0	5	0	82	318
ACP5	54	broad.mit.edu	37	19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	256					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|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 nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|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)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587																																						ENST00000592828.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(766-768)Gtg>Atg		acid phosphatase 5, tartrate resistant							63.0	49.0	53.0					19																	11686037		2203	4300	6503	SO:0001583	missense	54	89	121408	50				g.chr19:11686037C>T	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.766G>A	chr19.hg19:g.11686037C>T	ENSP00000468767:p.Val256Met	0					ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M	p.V256M	NM_001111034.1	NP_001104504.1	1	2	3	2.010022	P13686	PPA5_HUMAN		7	1168	-			A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	1	1	hg19	c.766G>A	CCDS12265.1	1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354051	0.24512	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71461	-0.57;-0.57;-0.57	4.82	2.55	0.30701	4.82	2.55	0.30701	.	0.279582	0.35525	N	0.003156	T	0.57359	0.2048	L	0.56280	1.765	0.80722	D	1	P	0.37101	0.582	B	0.28465	0.09	T	0.52815	-0.8525	10	0.48119	T	0.1	-17.5314	7.146	0.25583	0.0:0.69:0.0:0.31	.	256	P13686	PPA5_HUMAN	M	256	ENSP00000218758:V256M;ENSP00000392374:V256M;ENSP00000413456:V256M	ENSP00000218758:V256M	V	-	1	0	0	ACP5	11547037	11547037	0.882000	0.30256	0.823000	0.32752	0.264000	0.26372	1.619000	0.36965	0.355000	0.24131	0.550000	0.68814	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.330227	1	0.170000				54	53		251	245	1		1	1		0	0	78	0		1	1	0	26	0	831	0	54	251
ZNF627	199692	broad.mit.edu	37	19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(334-336)Ggt>Tgt		zinc finger protein 627							158.0	159.0	159.0					19																	11727652		2142	4269	6411	SO:0001583	missense	199692	0	0					g.chr19:11727652G>T	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.334G>T	chr19.hg19:g.11727652G>T	ENSP00000354414:p.Gly112Cys	0					ZNF627_ENST00000588174.1_3'UTR	p.G112C	NM_145295.3	NP_660338.1	1	2	3	2.010022	Q7L945	ZN627_HUMAN		4	542	+			O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	1	1	hg19	c.334G>T	CCDS42502.1	1	.	.	.	.	.	.	.	.	.	.	g	8.558	0.877179	0.17395	.	.	ENSG00000198551	ENST00000361113	T	0.14893	2.47	1.36	-2.73	0.05950	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07954	0.0199	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	9	0.36615	T	0.2	.	2.9306	0.05799	0.0:0.3208:0.2676:0.4116	.	112	Q7L945	ZN627_HUMAN	C	112	ENSP00000354414:G112C	ENSP00000354414:G112C	G	+	1	0	0	ZNF627	11588652	11588652	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.992000	0.00162	-0.782000	0.04541	0.313000	0.20887	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-3.318802	1	0.170000	NM_145295			91	87		569	556	1		1	1		0	0	154	0		1	9.692941e-01	0	10	0	27	0	91	569
ZNF627	199692	broad.mit.edu	37	19	11727882	11727882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(562-564)acG>acA		zinc finger protein 627							85.0	88.0	87.0					19																	11727882		2183	4287	6470	SO:0001819	synonymous_variant	199692	1	121322	28				g.chr19:11727882G>A	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.564G>A	chr19.hg19:g.11727882G>A		0					ZNF627_ENST00000588174.1_3'UTR	p.T188T	NM_145295.3	NP_660338.1	1	2	3	2.010022	Q7L945	ZN627_HUMAN		4	772	+			O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	1	1	hg19	c.564G>A	CCDS42502.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.492473	1	0.170000	NM_145295			55	55		237	233	1		1	1		0	0	52	0		1	9.965779e-01	0	11	0	29	0	55	237
ZNF823	55552	broad.mit.edu	37	19	11832603	11832603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	ENST00000341191.6	-	4	1899	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_ENST00000545749.1_Silent_p.L400L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TACATTCATACAGCTTCTCTC	0.418										HNSCC(68;0.2)																												ENST00000341191.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1744-1746)ctG>ctA		zinc finger protein 823							91.0	91.0	91.0					19																	11832603		2203	4300	6503	SO:0001819	synonymous_variant	55552	0	0					g.chr19:11832603C>T	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.1746G>A	chr19.hg19:g.11832603C>T		0	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Silent_p.L400L	p.L582L	NM_001080493.2	NP_001073962.1	1	2	3	2.010022	P16415	ZN823_HUMAN		4	1899	-			A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	1	0	hg19	c.1746G>A	CCDS45981.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.637144	1	0.170000	NM_001080493			83	83		332	325	1		1	1		0	0	94	0		1	8.976860e-01	0	5	0	13	0	83	332
ZNF441	126068	broad.mit.edu	37	19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393																																						ENST00000357901.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2035-2037)Gca>Aca		zinc finger protein 441							69.0	75.0	73.0					19																	11892674		2203	4300	6503	SO:0001583	missense	126068	0	0					g.chr19:11892674G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2035G>A	chr19.hg19:g.11892674G>A	ENSP00000350576:p.Ala679Thr	0					ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	p.A679T	NM_152355.2	NP_689568.2	1	2	3	2.010022	Q8N8Z8	ZN441_HUMAN		4	2137	+				Missense_Mutation	SNP	ENST00000357901.4	1	1	hg19	c.2035G>A	CCDS12266.2	1	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167675	0.01660	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.60797	0.16;0.16	1.04	-1.6	0.08426	1.04	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.34658	0.0905	N	0.20807	0.61	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.11916	-1.0568	9	0.33141	T	0.24	.	3.5164	0.07726	0.2866:0.0:0.4456:0.2678	.	679	Q8N8Z8	ZN441_HUMAN	T	635;679;612	ENSP00000350576:A679T;ENSP00000403738:A612T	ENSP00000350576:A679T	A	+	1	0	0	ZNF441	11753674	11753674	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	-1.245000	0.02899	-1.183000	0.02723	-1.842000	0.00583	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	0	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-19.999970	1	0.170000	NM_152355			41	41		178	175	1		1	0		0	0	44	0		1	6.885153e-01	0	0	0	12	0	41	178
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438																																						ENST00000323169.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(607-609)cGc>cAc		zinc finger protein 491							55.0	55.0	55.0					19																	11917376		2203	4300	6503	SO:0001583	missense	126069	0	0					g.chr19:11917376G>A	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.608G>A	chr19.hg19:g.11917376G>A	ENSP00000313443:p.Arg203His	0					ZNF491_ENST00000492230.1_Intron	p.R203H	NM_152356.3	NP_689569.2	1	2	3	2.010022	Q8N8L2	ZN491_HUMAN		3	939	+			Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	1	1	hg19	c.608G>A	CCDS12267.1	1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	0	ZNF491	11778376	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-19.999250	1	0.170000	NM_152356			39	38		174	172	1		1	0		0	0	52	0		1	9.227307e-02	0	0	0	3	0	39	174
ZNF440	126070	broad.mit.edu	37	19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	160					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413																																						ENST00000304060.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(478-480)Aga>Gga		zinc finger protein 440							121.0	124.0	123.0					19																	11942469		2203	4300	6503	SO:0001583	missense	126070	0	0					g.chr19:11942469A>G	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.478A>G	chr19.hg19:g.11942469A>G	ENSP00000305373:p.Arg160Gly	0						p.R160G	NM_152357.2	NP_689570.2	1	2	3	2.010022	Q8IYI8	ZN440_HUMAN		4	642	+			Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	1	1	hg19	c.478A>G	CCDS42503.1	1	.	.	.	.	.	.	.	.	.	.	a	7.908	0.735858	0.15574	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.29655	1.56;2.37;2.39;5.6	0.724	-1.45	0.08828	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.60173	0.87	T	0.31833	-0.9929	9	0.42905	T	0.14	.	4.0694	0.09876	0.383:0.256:0.361:0.0	.	160	Q8IYI8	ZN440_HUMAN	G	160;38;163;162	ENSP00000305373:R160G;ENSP00000404425:R38G;ENSP00000393489:R163G;ENSP00000411974:R162G	ENSP00000305373:R160G	R	+	1	2	2	ZNF440	11803469	11803469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.943000	0.03917	-1.616000	0.01572	-1.231000	0.01572	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	1	0	1		2	2	2	0		0	0	230		230	227	1	2.060000	-20.000000	1	0.170000	NM_152357			157	152		700	688	1		1	1		0	0	230	0		1	9.941743e-01	0	16	0	21	0	157	700
ZNF700	90592	broad.mit.edu	37	19	12059625	12059625	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000254321.5	+	4	929	c.786T>C	c.(784-786)tcT>tcC	p.S262S	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Silent_p.S244S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		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						TTACTTATTCTGCTACCCTTC	0.358																																						ENST00000254321.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																									ZNF700/MAST1_ENST00000251472(2)	0				33						c.(784-786)tcT>tcC		zinc finger protein 700							48.0	47.0	48.0					19																	12059625		2203	4300	6503	SO:0001819	synonymous_variant	90592	0	0					g.chr19:12059625T>C	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.786T>C	chr19.hg19:g.12059625T>C		0					ZNF700_ENST00000482090.1_Silent_p.S244S|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	p.S262S	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	1	2	3	2.010022	Q9H0M5	ZN700_HUMAN		4	929	+			B9EGU4	Silent	SNP	ENST00000254321.5	1	1	hg19	c.786T>C	CCDS32915.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_144566			36	35		207	203	1		1	1		0	0	70	0		1	9.496077e-01	0	6	0	25	0	36	207
STK11	6794	broad.mit.edu	37	19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGATGTCGGTGGGTAT	0.662		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999733	0.990000	1.000000		14	yes	Rec	yes	Peutz-Jeghers syndrome	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	19p13.3	6794	D, Mis, N, F, S	serine/threonine kinase 11 gene (LKB1)				"""E, M, O"""	E, M, O		jejunal harmartoma, ovarian, testicular, pancreatic	NSCLC, pancreatic		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(20)|p.?(3)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	328						c.(55-57)Tcg>Ccg		serine/threonine kinase 11							20.0	24.0	23.0					19																	1206967		2067	4198	6265	SO:0001583	missense	6794	0	0		Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	g.chr19:1206967T>C	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.55T>C	chr19.hg19:g.1206967T>C	ENSP00000324856:p.Ser19Pro	0	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron	p.S19P	NM_000455.4	NP_000446.1	1	2	3	2.010022	Q15831	STK11_HUMAN		1	1228	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	1	1	hg19	c.55T>C	CCDS45896.1	1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165459	0.57476	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87571	-2.27	3.9	2.84	0.33178	3.9	2.84	0.33178	.	0.000000	0.51477	D	0.000089	T	0.80763	0.4685	L	0.44542	1.39	0.41654	D	0.989144	B	0.06786	0.001	B	0.08055	0.003	T	0.72450	-0.4290	10	0.44086	T	0.13	-9.5019	9.3951	0.38397	0.0:0.0:0.1802:0.8198	.	19	Q15831	STK11_HUMAN	P	19	ENSP00000324856:S19P	ENSP00000324856:S19P	S	+	1	0	0	STK11	1157967	1157967	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.717000	0.54911	0.362000	0.24319	0.379000	0.24179	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_000455			16	16		72	70	1		1	1	1	0	0	17	615		9.999544e-01	9.999996e-01	1	42	116	99	587	16	72
ZNF700	90592	broad.mit.edu	37	19	12060148	12060148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12060148G>A	ENST00000254321.5	+	4	1452	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.G419S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		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						TCGAGTGCACGGTGGGACTCA	0.483																																						ENST00000254321.5	1.000000	0.120000	3.900000e-01	1.800000e-01	0.260000	0.330033	0.260000	0.250000																									ZNF700/MAST1_ENST00000251472(2)	0				33						c.(1309-1311)Ggt>Agt		zinc finger protein 700							89.0	81.0	84.0					19																	12060148		2203	4300	6503	SO:0001583	missense	90592	2	121412	39				g.chr19:12060148G>A	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.1309G>A	chr19.hg19:g.12060148G>A	ENSP00000254321:p.Gly437Ser	0					ZNF700_ENST00000482090.1_Missense_Mutation_p.G419S|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	p.G437S	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	1	2	3	2.010022	Q9H0M5	ZN700_HUMAN		4	1452	+			B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	0	1	hg19	c.1309G>A	CCDS32915.1	0	.	.	.	.	.	.	.	.	.	.	g	7.306	0.614090	0.14066	.	.	ENSG00000196757	ENST00000254321	T	0.35236	1.32	0.527	-1.05	0.10036	0.527	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12603	0.0306	N	0.02539	-0.55	0.09310	N	1	P	0.38729	0.644	B	0.36289	0.221	T	0.13575	-1.0504	9	0.66056	D	0.02	.	3.5455	0.07827	0.2333:0.4453:0.3214:0.0	.	437	Q9H0M5	ZN700_HUMAN	S	437	ENSP00000254321:G437S	ENSP00000254321:G437S	G	+	1	0	0	ZNF700	11921148	11921148	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.369000	0.07533	-0.421000	0.07416	-1.098000	0.02139	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	0	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-2.887064	1	0.170000	NM_144566			9	9		422	417	0		1	0		0	0	119	0		9.940144e-01	2.043227e-01	0	0	0	36	0	9	422
ZNF763	284390	broad.mit.edu	37	19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A	rs182487066	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000358987.3	+	4	629	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	168					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GAATCACACCGGAGAGAAACC	0.428													g|||	10	0.00199681	0.003	0.0058	5008	,	,		21533	0.0		0.002	False		,,,				2504	0.0					ENST00000358987.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(502-504)Gga>Aga		zinc finger protein 763		G	ARG/GLY	14,4378	797.9+/-415.4	0,14,2182	108.0	114.0	112.0		511	0.5	0.0	19		112	18,8582	809.7+/-407.1	0,18,4282	yes	missense	ZNF763	NM_001012753.1	125	0,32,6464	AA,AG,GG		0.2093,0.3188,0.2463		171/398	12089241	32,12960	2196	4300	6496	SO:0001583	missense	284390	132	121404	57				g.chr19:12089241G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.502G>A	chr19.hg19:g.12089241G>A	ENSP00000402017:p.Gly168Arg	0					ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R	p.G168R			1	2	3	2.010022	Q0D2J5	ZN763_HUMAN		4	629	+			B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	1	0	hg19	c.502G>A		1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	a	9.824	1.186558	0.21870	0.003188	0.002093	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.68	0.523	0.17060	1.68	0.523	0.17060	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.48362	1.52	0.21915	N	0.999476	B;B;P	0.34977	0.06;0.024;0.478	B;B;B	0.17722	0.019;0.017;0.017	T	0.15435	-1.0437	9	0.59425	D	0.04	.	4.247	0.10675	0.403:0.0:0.597:0.0	.	188;168;171	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	R	188;171;46;168	ENSP00000438117:G188R;ENSP00000369774:G171R;ENSP00000446166:G46R;ENSP00000402017:G168R	ENSP00000369774:G171R	G	+	1	0	0	ZNF763	11950241	11950241	0.002000	0.14202	0.018000	0.16275	0.088000	0.18126	0.870000	0.28010	0.031000	0.15407	0.195000	0.17529	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	0	0	1		2	2	2	0		0	0	173		173	169	1	2.060000	-2.604612	1	0.170000	NM_001012753			145	140		594	585	1		1	1		0	0	173	0		1	4.871818e-01	0	2	0	6	0	145	594
ZNF763	284390	broad.mit.edu	37	19	12089805	12089805	+	Missense_Mutation	SNP	C	C	T	rs7250894	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089805C>T	ENST00000358987.3	+	4	1193	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ZNF763_ENST00000545530.1_Missense_Mutation_p.R234C|ZNF763_ENST00000590798.1_Missense_Mutation_p.R376C|ZNF763_ENST00000538752.1_Missense_Mutation_p.R376C|ZNF763_ENST00000343949.5_Missense_Mutation_p.R359C			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	356					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CAGTTCCCTTCGTAGACATGA	0.398																																						ENST00000358987.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1066-1068)Cgt>Tgt		zinc finger protein 763							98.0	103.0	101.0					19																	12089805		2166	4286	6452	SO:0001583	missense	284390	2019	121302	67				g.chr19:12089805C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1066C>T	chr19.hg19:g.12089805C>T	ENSP00000402017:p.Arg356Cys	0					ZNF763_ENST00000343949.5_Missense_Mutation_p.R359C|ZNF763_ENST00000538752.1_Missense_Mutation_p.R376C|ZNF763_ENST00000545530.1_Missense_Mutation_p.R234C|ZNF763_ENST00000590798.1_Missense_Mutation_p.R376C	p.R356C			1	2	3	2.010022	Q0D2J5	ZN763_HUMAN		4	1193	+			B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	1	0	hg19	c.1066C>T		1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553227	0.27739	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	1.41	-2.81	0.05805	1.41	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28764	0.0713	L	0.46819	1.47	0.09310	N	1	D;D;B	0.89917	1.0;1.0;0.115	D;D;B	0.77557	0.99;0.976;0.008	T	0.18272	-1.0342	9	0.72032	D	0.01	.	1.0161	0.01508	0.4737:0.2025:0.162:0.1619	.	376;356;359	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	C	376;359;234;356	ENSP00000438117:R376C;ENSP00000369774:R359C;ENSP00000446166:R234C;ENSP00000402017:R356C	ENSP00000369774:R359C	R	+	1	0	0	ZNF763	11950805	11950805	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.127000	0.15790	-0.819000	0.04323	0.205000	0.17691	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-2.783919	1	0.170000	NM_001012753			96	96		463	456	1		1	0		0	0	113	0		1	3.015079e-02	0	0	0	2	0	96	463
ZNF433	163059	broad.mit.edu	37	19	12125671	12125671	+	Missense_Mutation	SNP	C	C	A	rs190101419		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125671C>A	ENST00000344980.6	-	4	2181	c.2011G>T	c.(2011-2013)Gac>Tac	p.D671Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.D636Y|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						tatgggGTGTCTATGCAGTGA	0.478																																						ENST00000344980.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999792	0.990000	1.000000																										0				14						c.(2011-2013)Gac>Tac		zinc finger protein 433							40.0	42.0	42.0					19																	12125671		2103	4228	6331	SO:0001583	missense	163059	0	0					g.chr19:12125671C>A	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.2011G>T	chr19.hg19:g.12125671C>A	ENSP00000339767:p.Asp671Tyr	0					ZNF433_ENST00000419886.2_Missense_Mutation_p.D636Y|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	p.D671Y	NM_001080411.1	NP_001073880.1	1	2	3	2.010022	Q8N7K0	ZN433_HUMAN		4	2181	-			Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	0	1	hg19	c.2011G>T	CCDS45983.1	1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743643	0.15642	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07021	3.23;3.35	0.839	-0.352	0.12598	0.839	-0.352	0.12598	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07413	0.0187	L	0.50847	1.595	0.09310	N	1	B	0.28713	0.22	B	0.23018	0.043	T	0.31503	-0.9941	9	0.87932	D	0	.	4.5031	0.11874	0.0:0.7341:0.0:0.2659	.	671	Q8N7K0	ZN433_HUMAN	Y	636;671	ENSP00000393416:D636Y;ENSP00000339767:D671Y	ENSP00000339767:D671Y	D	-	1	0	0	ZNF433	11986671	11986671	0.121000	0.22262	0.000000	0.03702	0.172000	0.22775	0.868000	0.27982	-0.104000	0.12154	0.313000	0.20887	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_152602			13	13		45	43	1		1	0		0	0	14	0		9.996726e-01	0	0	1	0	0	0	13	45
ZNF433	163059	broad.mit.edu	37	19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A	rs201271699	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000344980.6	-	4	2070	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Nonsense_Mutation_p.R599*|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCATGCCTTCGAAGGTTTGAG	0.443													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22100	0.0		0.0	False		,,,				2504	0.0					ENST00000344980.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1900-1902)Cga>Tga		zinc finger protein 433		G	stop/ARG	5,4395	8.1+/-20.4	0,5,2195	82.0	86.0	85.0		1900	-2.7	0.0	19		85	0,8600		0,0,4300	no	stop-gained	ZNF433	NM_001080411.1		0,5,6495	AA,AG,GG		0.0,0.1136,0.0385		634/674	12125782	5,12995	2200	4300	6500	SO:0001587	stop_gained	163059	16	121394	44				g.chr19:12125782G>A	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.1900C>T	chr19.hg19:g.12125782G>A	ENSP00000339767:p.Arg634*	0					ZNF433_ENST00000419886.2_Nonsense_Mutation_p.R599*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	p.R634*	NM_001080411.1	NP_001073880.1	1	2	3	2.010022	Q8N7K0	ZN433_HUMAN		4	2070	-			Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	0	1	hg19	c.1900C>T	CCDS45983.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.838562	0.97009	0.001136	0.0	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.35	-2.71	0.05986	1.35	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	0.4753	0.00538	0.2561:0.1476:0.3216:0.2746	.	.	.	.	X	599;634	.	ENSP00000339767:R634X	R	-	1	2	2	ZNF433	11986782	11986782	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.246000	0.01191	-1.887000	0.01115	0.313000	0.20887	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.177082	1	0.170000	NM_152602			63	62		284	275	1		1			0	0	71	0		1	0	0	0	0	0	0	63	284
ZNF878	729747	broad.mit.edu	37	19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000547628.1	-	4	1693	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGATTGAGGCAGATCTAAA	0.403																																						ENST00000547628.1	1.000000	0.570000	1	7.500000e-01	0.970000	0.901126	0.970000	1.000000																										0				8						c.(1555-1557)gCc>gTc		zinc finger protein 878							69.0	77.0	74.0					19																	12154660		2191	4292	6483	SO:0001583	missense	729747	0	0					g.chr19:12154660G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1556C>T	chr19.hg19:g.12154660G>A	ENSP00000447931:p.Ala519Val	0					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V	p.A519V	NM_001080404.2	NP_001073873.2	1	2	3	2.010022	C9JN71	ZN878_HUMAN		4	1693	-				Missense_Mutation	SNP	ENST00000547628.1	1	1	hg19	c.1556C>T	CCDS45984.2	1	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150337	0.06585	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.28069	1.63	1.49	-2.97	0.05530	1.49	-2.97	0.05530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.31420	0.93	0.09310	N	1	P	0.44734	0.842	B	0.36922	0.236	T	0.05007	-1.0912	9	0.40728	T	0.16	.	4.1742	0.10345	0.4878:0.0:0.2714:0.2408	.	519	C9JN71	ZN878_HUMAN	V	519;566	ENSP00000447931:A519V	ENSP00000447931:A519V	A	-	2	0	0	AC022415.4;ZNF878	12015660	12015660	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.020000	0.13466	-2.235000	0.00714	-1.925000	0.00514	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.969830	1	0.170000	NM_001080404			16	16		186	185	0		1			0	0	46	0		9.999424e-01	0	0	0	0	0	0	16	186
ZNF878	729747	broad.mit.edu	37	19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000547628.1	-	4	691	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTACGAACAGAACTGGGAAA	0.398																																						ENST00000547628.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(553-555)tCt>tAt		zinc finger protein 878							174.0	185.0	181.0					19																	12155662		2114	4259	6373	SO:0001583	missense	729747	0	0					g.chr19:12155662G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.554C>A	chr19.hg19:g.12155662G>T	ENSP00000447931:p.Ser185Tyr	0					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y	p.S185Y	NM_001080404.2	NP_001073873.2	1	2	3	2.010022	C9JN71	ZN878_HUMAN		4	691	-				Missense_Mutation	SNP	ENST00000547628.1	1	1	hg19	c.554C>A	CCDS45984.2	1	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610728	0.03690	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07567	3.18	1.3	-2.6	0.06190	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.25992	0.78	0.09310	N	1	D	0.64830	0.994	P	0.61658	0.892	T	0.17471	-1.0368	9	0.14656	T	0.56	.	3.84	0.08911	0.2036:0.0:0.1891:0.6073	.	185	C9JN71	ZN878_HUMAN	Y	185;232	ENSP00000447931:S185Y	ENSP00000447931:S185Y	S	-	2	0	0	AC022415.4;ZNF878	12016662	12016662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.401000	0.07232	-0.859000	0.04105	-0.656000	0.03901	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	1	0	0		2	2	2	0		0	0	214		214	0	1	2.060000	-20.000000	1	0.170000	NM_001080404			164	0		823	0	1					0	0	214	0		0	0	0	0	0	0	0	164	823
ZNF625	90589	broad.mit.edu	37	19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000355738.1	-	4	1101	c.752A>G	c.(751-753)cAc>cGc	p.H251R	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	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)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433																																						ENST00000355738.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(751-753)cAc>cGc		zinc finger protein 625							120.0	116.0	117.0					19																	12256281		2203	4300	6503	SO:0001583	missense	90589	0	0					g.chr19:12256281T>C	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.752A>G	chr19.hg19:g.12256281T>C	ENSP00000347977:p.His251Arg	0					ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625_ENST00000455799.1_3'UTR	p.H251R			1	2	3	2.010022	Q96I27	ZN625_HUMAN		4	1101	-			A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	1	1	hg19	c.752A>G		1	.	.	.	.	.	.	.	.	.	.	T	9.889	1.203583	0.22121	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.12984	2.63;2.63;2.63	1.13	-1.87	0.07737	1.13	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	L	0.38692	1.165	0.09310	N	1	B;P	0.36162	0.011;0.54	B;B	0.34093	0.004;0.175	T	0.30031	-0.9992	9	0.25751	T	0.34	.	2.0453	0.03559	0.4188:0.0:0.3046:0.2765	.	251;251	A8K8U0;Q96I27	.;ZN625_HUMAN	R	251;251;317	ENSP00000438436:H251R;ENSP00000347977:H251R;ENSP00000394380:H317R	ENSP00000347977:H251R	H	-	2	0	0	AC022415.5	12117281	12117281	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-8.705000	0.00017	-0.491000	0.06697	0.260000	0.18958	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_145233			110	108		520	503	1		1	0		0	0	127	0		1	8.190775e-02	0	0	0	3	0	110	520
ZNF136	7695	broad.mit.edu	37	19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	403					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)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCCTTTCATTCTCTGAGTCCA	0.383																																						ENST00000343979.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1207-1209)tCt>tAt		zinc finger protein 136							73.0	67.0	69.0					19																	12298401		2203	4300	6503	SO:0001583	missense	7695	0	0					g.chr19:12298401C>A	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.1208C>A	chr19.hg19:g.12298401C>A	ENSP00000344162:p.Ser403Tyr	0					ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	p.S403Y	NM_003437.3	NP_003428.1	1	2	3	2.010022	P52737	ZN136_HUMAN		4	1348	+				Missense_Mutation	SNP	ENST00000343979.4	1	1	hg19	c.1208C>A	CCDS32916.1	1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038960	0.08148	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06608	3.28;3.28	1.4	-2.8	0.05823	1.4	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.05487	-0.04	0.09310	N	1	P	0.43231	0.801	B	0.31191	0.125	T	0.45145	-0.9281	8	.	.	.	.	4.8689	0.13622	0.0:0.1802:0.4533:0.3665	.	403	P52737	ZN136_HUMAN	Y	403;337	ENSP00000344162:S403Y;ENSP00000381617:S337Y	.	S	+	2	0	0	ZNF136	12159401	12159401	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-3.496000	0.00451	-1.012000	0.03387	0.655000	0.94253	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_003437			54	54		235	226	1		1	0		0	0	74	0		1	7.986399e-01	0	1	0	14	0	54	235
C19orf26	255057	broad.mit.edu	37	19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A	rs534006111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000382477.2	-	5	666	c.392C>T	c.(391-393)gCg>gTg	p.A131V	C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000590083.1_Missense_Mutation_p.A137V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	131						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697										HNSCC(14;0.022)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		10680	0.0		0.0	False		,,,				2504	0.0					ENST00000382477.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.986022	0.990000	1.000000																										0				9						c.(391-393)gCg>gTg		chromosome 19 open reading frame 26							22.0	25.0	24.0					19																	1235045		2194	4295	6489	SO:0001583	missense	255057	16	120706	38				g.chr19:1235045G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.392C>T	chr19.hg19:g.1235045G>A	ENSP00000371917:p.Ala131Val	0	HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000590083.1_Missense_Mutation_p.A137V	p.A131V			1	2	3	2.010022	Q8N350	DOS_HUMAN		5	666	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	O43385	Missense_Mutation	SNP	ENST00000382477.2	0	1	hg19	c.392C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691138	0.68271	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	3.64	3.64	0.41730	.	0.284806	0.32120	N	0.006547	T	0.54240	0.1846	N	0.14661	0.345	0.53005	D	0.999967	D	0.89917	1.0	D	0.69479	0.964	T	0.63019	-0.6730	9	0.72032	D	0.01	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	131	Q8N350-2	.	V	131	.	ENSP00000215376:A131V	A	-	2	0	0	C19orf26	1186045	1186045	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	8.771000	0.91751	2.026000	0.59711	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_152769			18	18		148	145	0		1	0		0	0	24	0		9.999846e-01	1.338405e-02	0	1	0	1	0	18	148
ZNF136	7695	broad.mit.edu	37	19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	436					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)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACATCAATTCGAATACATGA	0.373																																						ENST00000343979.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(1306-1308)Cga>Tga		zinc finger protein 136							58.0	55.0	56.0					19																	12298499		2203	4300	6503	SO:0001587	stop_gained	7695	0	0					g.chr19:12298499C>T	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.1306C>T	chr19.hg19:g.12298499C>T	ENSP00000344162:p.Arg436*	0					ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	p.R436*	NM_003437.3	NP_003428.1	1	2	3	2.010022	P52737	ZN136_HUMAN		4	1446	+				Nonsense_Mutation	SNP	ENST00000343979.4	0	1	hg19	c.1306C>T	CCDS32916.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.110029	0.94292	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.25	0.105	0.14535	1.25	0.105	0.14535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6072	0.02686	0.3018:0.3472:0.0:0.351	.	.	.	.	X	436;370	.	.	R	+	1	2	2	ZNF136	12159499	12159499	0.000000	0.05858	0.011000	0.14972	0.796000	0.44982	-0.138000	0.10374	0.066000	0.16515	-0.181000	0.13052	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-19.977630	1	0.170000	NM_003437			37	36		174	168	1		1	1		0	0	48	0		1	8.462045e-01	0	3	0	15	0	37	174
ZNF44	51710	broad.mit.edu	37	19	12383526	12383526	+	Missense_Mutation	SNP	C	C	T	rs61737485	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12383526C>T	ENST00000356109.5	-	5	1806	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ZNF44_ENST00000355684.5_Missense_Mutation_p.R515H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	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)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTAACTGAAACGACTGAAGGC	0.388													C|||	44	0.00878594	0.0318	0.0029	5008	,	,		20549	0.0		0.0	False		,,,				2504	0.0					ENST00000356109.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				1						c.(1687-1689)cGt>cAt		zinc finger protein 44		C	HIS/ARG,HIS/ARG	120,3976		1,118,1929	51.0	52.0	51.0		1688,1544	-2.0	0.0	19	dbSNP_129	51	0,8454		0,0,4227	yes	missense,missense	ZNF44	NM_001164276.1,NM_016264.3	29,29	1,118,6156	TT,TC,CC		0.0,2.9297,0.9562	benign,benign	563/664,515/616	12383526	120,12430	2048	4227	6275	SO:0001583	missense	51710	321	120974	55				g.chr19:12383526C>T	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.1688G>A	chr19.hg19:g.12383526C>T	ENSP00000348419:p.Arg563His	0					ZNF44_ENST00000355684.5_Missense_Mutation_p.R515H	p.R563H	NM_001164276.1	NP_001157748.1	1	2	3	2.010022	P15621	ZNF44_HUMAN		5	1806	-		Renal(1328;0.157)	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	1	0	hg19	c.1688G>A	CCDS54223.1	1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	4.542	0.100647	0.08731	0.029297	0.0	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07327	3.2;3.2;3.2	0.997	-1.99	0.07457	0.997	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	L	0.38953	1.18	.	.	.	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.001	T	0.47611	-0.9104	8	0.11485	T	0.65	.	4.0631	0.09847	0.0:0.2338:0.1945:0.5717	.	563;515	P15621;F8W7T7	ZNF44_HUMAN;.	H	563;563;515;515	ENSP00000377008:R563H;ENSP00000348419:R563H;ENSP00000347910:R515H	ENSP00000347910:R515H	R	-	2	0	0	ZNF44	12244526	12244526	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-5.789000	0.00098	-1.173000	0.02758	0.305000	0.20034	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.574785	1	0.170000	NM_016264			31	30		125	121	1		1	1		0	0	46	0		1	9.598356e-01	0	5	0	19	0	31	125
ZNF563	147837	broad.mit.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A	rs555208908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1003-1005)Cga>Tga		zinc finger protein 563							170.0	161.0	164.0					19																	12429836		2203	4300	6503	SO:0001587	stop_gained	147837	71	121412	51				g.chr19:12429836G>A	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.1003C>T	chr19.hg19:g.12429836G>A	ENSP00000293725:p.Arg335*	0						p.R335*	NM_145276.2	NP_660319.1	1	2	3	2.010022	Q8TA94	ZN563_HUMAN		4	1208	-			B2R9E7|Q8NAT7	Nonsense_Mutation	SNP	ENST00000293725.5	0	0	hg19	c.1003C>T	CCDS12270.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	2	ZNF563	12290836	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	1	0	1		2	2	2	1		1	0	201		201	200	1	2.060000	-3.230311	1	0.170000	NM_145276			155	150		744	734	1		1	1		1	0	201	0		1	8.977330e-01	0	6	0	15	0	155	744
ZNF799	90576	broad.mit.edu	37	19	12503438	12503438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12503438C>A	ENST00000430385.3	-	3	370	c.170G>T	c.(169-171)aGa>aTa	p.R57I	ZNF799_ENST00000419318.1_Missense_Mutation_p.R25I|ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	57	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCTGGGATATCTATATTGATC	0.299																																						ENST00000430385.3	1.000000	0.150000	5.200000e-01	2.300000e-01	0.340000	0.404017	0.340000	0.320000																										0				19						c.(169-171)aGa>aTa		zinc finger protein 799							84.0	87.0	86.0					19																	12503438		2201	4295	6496	SO:0001583	missense	90576	0	0					g.chr19:12503438C>A	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.170G>T	chr19.hg19:g.12503438C>A	ENSP00000411084:p.Arg57Ile	0					ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.R25I|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I	p.R57I	NM_001080821.2	NP_001074290.1	1	2	3	2.010022	Q96GE5	ZN799_HUMAN		3	370	-				Missense_Mutation	SNP	ENST00000430385.3	0	1	hg19	c.170G>T	CCDS45989.1	0	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252252	0.10185	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.2	1.18	-0.0066	0.14012	1.18	-0.0066	0.14012	Krueppel-associated box (2);	.	.	.	.	T	0.04318	0.0119	N	0.17278	0.47	0.09310	N	1	B	0.19331	0.035	B	0.15484	0.013	T	0.41787	-0.9489	9	0.39692	T	0.17	.	2.2344	0.04004	0.0:0.2258:0.3164:0.4577	.	57	Q96GE5	ZN799_HUMAN	I	25;57	ENSP00000415278:R25I;ENSP00000411084:R57I	ENSP00000415278:R25I	R	-	2	0	0	ZNF799	12364438	12364438	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.212000	0.09319	-0.027000	0.13873	-0.634000	0.03986	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	0	0	1		2	2	2	0		0	0	74		74	79	1	2.060000	-3.490841	1	0.170000	NM_001080821			8	8		289	282	0		1	0		0	0	74	0		9.885640e-01	3.048074e-02	0	0	0	9	0	8	289
ZNF443	10224	broad.mit.edu	37	19	12541219	12541219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	589					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTGTGGACATTCATAGGATT	0.413																																						ENST00000301547.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1765-1767)gaA>gaG		zinc finger protein 443							124.0	123.0	123.0					19																	12541219		2203	4300	6503	SO:0001819	synonymous_variant	10224	3	121406	37				g.chr19:12541219T>C	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.1767A>G	chr19.hg19:g.12541219T>C		0					CTD-3105H18.16_ENST00000595562.1_Intron	p.E589E	NM_005815.4	NP_005806	1	2	3	2.010022	Q9Y2A4	ZN443_HUMAN		4	1964	-				Silent	SNP	ENST00000301547.5	1	1	hg19	c.1767A>G	CCDS32918.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1		2	2	2	0		0	0	110		110	112	1	2.060000	-20.000000	1	0.170000	NM_005815			101	99		421	416	1		1	1		0	0	110	0		1	6.591088e-01	0	2	0	9	0	101	421
ZNF443	10224	broad.mit.edu	37	19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	542					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATCATAATGACCGAAGGCTTT	0.403																																						ENST00000301547.5	1.000000	0.250000	5.700000e-01	3.200000e-01	0.420000	0.472923	0.420000	0.400000																										0				28						c.(1624-1626)gGt>gAt		zinc finger protein 443							120.0	114.0	116.0					19																	12541361		2203	4300	6503	SO:0001583	missense	10224	0	0					g.chr19:12541361C>T	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.1625G>A	chr19.hg19:g.12541361C>T	ENSP00000301547:p.Gly542Asp	0					CTD-3105H18.16_ENST00000595562.1_Intron	p.G542D	NM_005815.4	NP_005806	1	2	3	2.010022	Q9Y2A4	ZN443_HUMAN		4	1822	-				Missense_Mutation	SNP	ENST00000301547.5	1	1	hg19	c.1625G>A	CCDS32918.1	0	.	.	.	.	.	.	.	.	.	.	C	5.613	0.297925	0.10622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-1.44	0.08856	1.37	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.41161	-0.9524	9	0.40728	T	0.16	.	4.9344	0.13934	0.567:0.2447:0.1883:0.0	.	542	Q9Y2A4	ZN443_HUMAN	D	542	ENSP00000301547:G542D	ENSP00000301547:G542D	G	-	2	0	0	ZNF443	12402361	12402361	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-7.078000	0.00045	-0.289000	0.09038	0.461000	0.40582	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	0	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.770120	1	0.170000	NM_005815			17	18		477	471	0		1	0		0	0	101	0		9.999632e-01	2.547199e-02	0	0	0	7	0	17	477
ZNF443	10224	broad.mit.edu	37	19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CAGTGTGCGTTCTTTCATGCA	0.398																																						ENST00000301547.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(649-651)agA>agC		zinc finger protein 443							125.0	125.0	125.0					19																	12542335		2203	4299	6502	SO:0001583	missense	10224	0	0					g.chr19:12542335T>G	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.651A>C	chr19.hg19:g.12542335T>G	ENSP00000301547:p.Arg217Ser	0					CTD-3105H18.16_ENST00000595562.1_Intron	p.R217S	NM_005815.4	NP_005806	1	2	3	2.010022	Q9Y2A4	ZN443_HUMAN		4	848	-				Missense_Mutation	SNP	ENST00000301547.5	1	1	hg19	c.651A>C	CCDS32918.1	1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510590	0.64522	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24151	1.87	1.37	0.313	0.15842	1.37	0.313	0.15842	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.64676	1.99	0.21802	N	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	9	0.56958	D	0.05	.	5.5417	0.17041	0.0:0.1681:0.0:0.8319	.	217	Q9Y2A4	ZN443_HUMAN	S	217	ENSP00000301547:R217S	ENSP00000301547:R217S	R	-	3	2	2	ZNF443	12403335	12403335	0.000000	0.05858	0.016000	0.15963	0.662000	0.39071	-1.840000	0.01684	0.046000	0.15833	0.378000	0.23410	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1		16	2	2	0		0	1	184		184	191	1	2.060000	-20.000000	1	0.170000	NM_005815			169	160		701	690	1		1	0		0	0	184	0		1	9.931997e-02	0	1	0	2	0	169	701
ZNF443	10224	broad.mit.edu	37	19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATTGATCTTCAATGTTCT	0.294																																						ENST00000301547.5	1.000000	0.770000	1	9.800000e-01	0.990000	0.980159	0.990000	1.000000																										0				28						c.(157-159)gaA>gaC		zinc finger protein 443							68.0	76.0	73.0					19																	12543223		2201	4292	6493	SO:0001583	missense	10224	0	0					g.chr19:12543223T>G	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.159A>C	chr19.hg19:g.12543223T>G	ENSP00000301547:p.Glu53Asp	0					CTD-3105H18.16_ENST00000595562.1_Intron	p.E53D	NM_005815.4	NP_005806	1	2	3	2.010022	Q9Y2A4	ZN443_HUMAN		3	356	-				Missense_Mutation	SNP	ENST00000301547.5	1	1	hg19	c.159A>C	CCDS32918.1	1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336043	0.24253	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00873	5.59	1.28	0.133	0.14766	1.28	0.133	0.14766	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.39326	1.205	0.20638	N	0.999871	B	0.14012	0.009	B	0.13407	0.009	T	0.45101	-0.9284	9	0.31617	T	0.26	.	5.4506	0.16563	0.0:0.0:0.2877:0.7123	.	53	Q9Y2A4	ZN443_HUMAN	D	53	ENSP00000301547:E53D	ENSP00000301547:E53D	E	-	3	2	2	ZNF443	12404223	12404223	0.006000	0.16342	0.085000	0.20634	0.318000	0.28184	0.267000	0.18552	0.007000	0.14760	-0.827000	0.03088	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1		2	2	2	0		0	0	64		64	70	1	2.060000	-8.754761	1	0.170000	NM_005815			18	18		156	150	1		1	0		0	0	64	0		9.999817e-01	0	0	0	0	1	0	18	156
ZNF709	163051	broad.mit.edu	37	19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3	1.000000	0.550000	1	6.700000e-01	0.810000	0.822365	0.810000	1.000000																										0				6						c.(1006-1008)tAt>tGt		zinc finger protein 709							66.0	73.0	71.0					19																	12575729		2194	4298	6492	SO:0001583	missense	163051	1	121342	28				g.chr19:12575729T>C	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.1007A>G	chr19.hg19:g.12575729T>C	ENSP00000380840:p.Tyr336Cys	0					ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C|CTD-3105H18.18_ENST00000598753.1_Intron	p.Y336C	NM_152601.3	NP_689814.1	1	2	3	2.010022	Q8N972	ZN709_HUMAN		4	1178	-			A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	1	1	hg19	c.1007A>G	CCDS42504.1	0	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349899	0.41599	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25414	1.8;1.8	2.71	1.68	0.24146	2.71	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32314	N	0.006261	T	0.31136	0.0787	M	0.78344	2.41	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.25779	-1.0122	10	0.87932	D	0	.	4.0244	0.09680	0.0:0.1249:0.2126:0.6625	.	336	Q8N972	ZN709_HUMAN	C	336	ENSP00000380840:Y336C;ENSP00000404127:Y336C	ENSP00000404127:Y336C	Y	-	2	0	0	ZNF709;CTD-2192J16.17	12436729	12436729	0.002000	0.14202	0.664000	0.29753	0.994000	0.84299	0.025000	0.13577	0.481000	0.27557	0.383000	0.25322	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_152601			29	29		401	398	0		1	0		0	0	88	0		1	2.698141e-02	0	0	0	4	0	29	401
ZNF709	163051	broad.mit.edu	37	19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(223-225)gAa>gCa		zinc finger protein 709							88.0	72.0	77.0					19																	12576512		1838	4099	5937	SO:0001583	missense	163051	0	0					g.chr19:12576512T>G	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.224A>C	chr19.hg19:g.12576512T>G	ENSP00000380840:p.Glu75Ala	0					ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A|CTD-3105H18.18_ENST00000598753.1_Intron	p.E75A	NM_152601.3	NP_689814.1	1	2	3	2.010022	Q8N972	ZN709_HUMAN		4	395	-			A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	1	1	hg19	c.224A>C	CCDS42504.1	1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178007	0.57692	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05855	3.38;5.1;3.38	2.81	2.81	0.32909	2.81	2.81	0.32909	Krueppel-associated box (1);	1.016590	0.07923	N	0.976251	T	0.10423	0.0255	L	0.57536	1.79	0.24101	N	0.99588	P	0.52316	0.952	B	0.43950	0.437	T	0.28713	-1.0035	10	0.62326	D	0.03	.	9.3748	0.38277	0.0:0.0:0.0:1.0	.	75	Q8N972	ZN709_HUMAN	A	75;104;75	ENSP00000380840:E75A;ENSP00000398085:E104A;ENSP00000404127:E75A	ENSP00000404127:E75A	E	-	2	0	0	ZNF709;CTD-2192J16.17	12437512	12437512	0.007000	0.16637	0.633000	0.29310	0.263000	0.26337	1.824000	0.39072	1.542000	0.49330	0.260000	0.18958	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_152601			43	42		148	145	1		1	0		0	0	37	0		1	1.336960e-01	0	0	0	3	0	43	148
ZNF564	163050	broad.mit.edu	37	19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGGTGAGATCTGATGTGCCT	0.383																																						ENST00000339282.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(367-369)aGa>aTa		zinc finger protein 564							117.0	121.0	120.0					19																	12638554		2162	4282	6444	SO:0001583	missense	163050	0	0					g.chr19:12638554C>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.368G>T	chr19.hg19:g.12638554C>A	ENSP00000340004:p.Arg123Ile	0					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	p.R123I	NM_144976.3	NP_659413.1	1	2	3	2.010022	Q8TBZ8	ZN564_HUMAN		4	564	-			B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	1	1	hg19	c.368G>T	CCDS42505.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272807	0.59649	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	-2.2	0.06994	1.71	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.68952	2.095	0.09310	N	0.999995	B	0.24576	0.106	B	0.34931	0.192	T	0.48896	-0.8994	9	0.66056	D	0.02	.	0.3553	0.00355	0.1979:0.2175:0.1971:0.3876	.	123	Q8TBZ8	ZN564_HUMAN	I	123	ENSP00000340004:R123I	ENSP00000340004:R123I	R	-	2	0	0	ZNF564	12499554	12499554	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-1.537000	0.02206	-0.514000	0.06488	0.643000	0.83706	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_144976			78	76		320	314	1		1	1		0	0	72	0		1	9.902935e-01	0	9	0	23	0	78	320
ZNF490	57474	broad.mit.edu	37	19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428																																						ENST00000311437.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(871-873)caG>caT		zinc finger protein 490							79.0	78.0	78.0					19																	12692016		2203	4300	6503	SO:0001583	missense	57474	0	0					g.chr19:12692016C>A	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.873G>T	chr19.hg19:g.12692016C>A	ENSP00000311521:p.Gln291His	0					CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	p.Q291H	NM_020714.2	NP_065765.1	1	2	3	2.010022	Q9ULM2	ZN490_HUMAN		5	995	-				Missense_Mutation	SNP	ENST00000311437.6	1	1	hg19	c.873G>T	CCDS12272.1	1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070744	0.08436	.	.	ENSG00000188033	ENST00000311437	T	0.08984	3.03	0.996	-1.99	0.07457	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.12887	0.27	0.09310	N	1	P	0.47034	0.889	B	0.40565	0.333	T	0.25779	-1.0122	9	0.87932	D	0	.	2.6343	0.04953	0.2996:0.2591:0.0:0.4413	.	291	Q9ULM2	ZN490_HUMAN	H	291	ENSP00000311521:Q291H	ENSP00000311521:Q291H	Q	-	3	2	2	ZNF490	12553016	12553016	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-6.240000	0.00074	-1.451000	0.01933	-0.339000	0.08088	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_020714			75	73		358	353	1		1	0		0	0	92	0		1	4.825310e-01	0	1	0	8	0	75	358
ZNF490	57474	broad.mit.edu	37	19	12694290	12694290	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	81	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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488																																						ENST00000311437.6	1.000000	0.350000	6.800000e-01	4.300000e-01	0.530000	0.574334	0.530000	0.520000																										0				18						c.(241-243)atC>atT		zinc finger protein 490							116.0	113.0	114.0					19																	12694290		2203	4300	6503	SO:0001819	synonymous_variant	57474	0	0					g.chr19:12694290G>A	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.243C>T	chr19.hg19:g.12694290G>A		0					CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	p.I81I	NM_020714.2	NP_065765.1	1	2	3	2.010022	Q9ULM2	ZN490_HUMAN		3	365	-				Silent	SNP	ENST00000311437.6	1	1	hg19	c.243C>T	CCDS12272.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.290689	1	0.170000	NM_020714			26	25		564	551	0		1	0		0	0	109	0		9.999999e-01	1.951069e-02	0	0	0	5	0	26	564
ZNF791	163049	broad.mit.edu	37	19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000343325.4	+	4	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACGAAGAAGACTGCCGGAGTA	0.443																																						ENST00000343325.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(280-282)aCt>aTt		zinc finger protein 791							153.0	146.0	149.0					19																	12738624		2203	4300	6503	SO:0001583	missense	163049	0	0					g.chr19:12738624C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.281C>T	chr19.hg19:g.12738624C>T	ENSP00000342974:p.Thr94Ile	0					ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR	p.T94I	NM_153358.2	NP_699189.2	1	2	3	2.010022	Q3KP31	ZN791_HUMAN		4	443	+			B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	1	1	hg19	c.281C>T	CCDS12273.1	1	.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873322	0.02570	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.06294	3.42;3.32	1.22	0.0184	0.14117	1.22	0.0184	0.14117	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	0.999994	B	0.16166	0.016	B	0.19391	0.025	T	0.41034	-0.9531	9	0.62326	D	0.03	.	6.1824	0.20478	0.2991:0.7009:0.0:0.0	.	94	Q3KP31	ZN791_HUMAN	I	94;94;62	ENSP00000342974:T94I;ENSP00000441761:T62I	ENSP00000342974:T94I	T	+	2	0	0	ZNF791	12599624	12599624	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.071000	0.14594	0.052000	0.16007	0.484000	0.47621	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_153358			161	161		684	668	1		1	1		0	0	193	0		1	9.982441e-01	0	10	0	32	0	161	684
ZNF791	163049	broad.mit.edu	37	19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000343325.4	+	4	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	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)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423																																						ENST00000343325.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(691-693)Att>Ttt		zinc finger protein 791							60.0	58.0	59.0					19																	12739034		2203	4300	6503	SO:0001583	missense	163049	0	0					g.chr19:12739034A>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.691A>T	chr19.hg19:g.12739034A>T	ENSP00000342974:p.Ile231Phe	0					ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF791_ENST00000446165.1_3'UTR	p.I231F	NM_153358.2	NP_699189.2	1	2	3	2.010022	Q3KP31	ZN791_HUMAN		4	853	+			B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	1	1	hg19	c.691A>T	CCDS12273.1	1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413989	0.11870	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.08282	3.11;3.11;3.11	1.83	0.603	0.17541	1.83	0.603	0.17541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03294	-0.36	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42766	-0.9432	9	0.40728	T	0.16	.	2.4812	0.04587	0.3467:0.4553:0.0:0.198	.	231	Q3KP31	ZN791_HUMAN	F	231;213;199;122	ENSP00000342974:I231F;ENSP00000441761:I199F;ENSP00000441038:I122F	ENSP00000342974:I231F	I	+	1	0	0	ZNF791	12600034	12600034	0.004000	0.15560	0.980000	0.43619	0.804000	0.45430	0.000000	0.12993	0.036000	0.15547	0.402000	0.26972	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_153358			65	64		255	252	1		1	1		0	0	69	0		1	9.945446e-01	0	6	0	28	0	65	255
WDR83	84292	broad.mit.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587																																						ENST00000418543.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R246C(1)	large_intestine(1)	4						c.(736-738)Cgt>Tgt		WD repeat domain 83							157.0	145.0	149.0					19																	12784068		2203	4300	6503	SO:0001583	missense	84292	1	121412	30				g.chr19:12784068C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.736C>T	chr19.hg19:g.12784068C>T	ENSP00000402653:p.Arg246Cys	0					WDR83_ENST00000242796.4_Missense_Mutation_p.R246C|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank	p.R246C	NM_001099737.2	NP_001093207.1	1	2	3	2.010022	Q9BRX9	WDR83_HUMAN		10	1085	+			B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	1	1	hg19	c.736C>T	CCDS12275.1	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	0	WDR83	12645068	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_032332			71	70		324	316	1		1	1		0	0	98	0		1	9.999957e-01	0	23	0	61	0	71	324
DHPS	1725	broad.mit.edu	37	19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	218					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TACACGGACTCTGGGTTGTTG	0.537																																						ENST00000210060.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(652-654)Gag>Tag		deoxyhypusine synthase							194.0	179.0	184.0					19																	12790297		2203	4300	6503	SO:0001587	stop_gained	1725	0	0					g.chr19:12790297C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.652G>T	chr19.hg19:g.12790297C>A	ENSP00000210060:p.Glu218*	0					DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*|DHPS_ENST00000599481.1_5'Flank	p.E218*	NM_001930.3	NP_001921.1	1	2	3	2.010022	P49366	DHYS_HUMAN		5	787	-			A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Nonsense_Mutation	SNP	ENST00000210060.7	0	1	hg19	c.652G>T	CCDS12276.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.500388	0.97616	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.268691	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.7813	16.7611	0.85512	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000210060:E218X	E	-	1	0	0	DHPS	12651297	12651297	1.000000	0.71417	0.907000	0.35723	0.963000	0.63663	7.375000	0.79646	2.546000	0.85860	0.563000	0.77884	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	1	0	1		2	2	2	0		0	0	215		215	213	1	2.060000	-20.000000	1	0.170000	NM_001930			225	221		982	954	1		1	1		0	0	215	0		1	1	0	4	0	169	0	225	982
FBXW9	84261	broad.mit.edu	37	19	12800936	12800936	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	ENST00000380339.3	-	6	998	c.962T>A	c.(961-963)aTc>aAc	p.I321N	FBXW9_ENST00000544494.1_Intron|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N|CTD-2192J16.26_ENST00000593554.1_lincRNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	321					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTCATGGGTGATGGGCCGGTG	0.632																																						ENST00000380339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(961-963)aTc>aAc		F-box and WD repeat domain containing 9							71.0	79.0	76.0					19																	12800936		2202	4300	6502	SO:0001583	missense	84261	0	0					g.chr19:12800936A>T	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.962T>A	chr19.hg19:g.12800936A>T	ENSP00000369696:p.Ile321Asn	0					CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N|FBXW9_ENST00000393261.3_Intron|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Intron	p.I321N			1	2	3	2.010022	Q5XUX1	FBXW9_HUMAN		6	998	-			B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	1	1	hg19	c.962T>A		1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380447	0.24944	.	.	ENSG00000132004	ENST00000380339	T	0.48522	0.81	3.58	0.0602	0.14335	3.58	0.0602	0.14335	.	3.720110	0.01781	U	0.031735	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.29440	0.102	T	0.13124	-1.0521	8	.	.	.	.	5.5629	0.17154	0.5412:0.0:0.4588:0.0	.	311	Q5XUX1-2	.	N	321	ENSP00000369696:I321N	.	I	-	2	0	0	FBXW9	12661936	12661936	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.229000	0.17833	0.071000	0.16664	0.402000	0.26972	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_032301			64	63		263	262	0		1	0		0	0	68	0		1	0	0	0	0	1	0	64	263
TNPO2	30000	broad.mit.edu	37	19	12812936	12812936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000592287.1	-	21	2469	c.2361C>T	c.(2359-2361)taC>taT	p.Y787Y	TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000425528.1_Silent_p.Y787Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	787					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677																																						ENST00000592287.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2359-2361)taC>taT		transportin 2							36.0	45.0	42.0					19																	12812936		2158	4236	6394	SO:0001819	synonymous_variant	30000	13	121152	40				g.chr19:12812936G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2361C>T	chr19.hg19:g.12812936G>A		0					TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000425528.1_Silent_p.Y787Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y	p.Y787Y	NM_001136196.1	NP_001129668.1	1	2	3	2.010022	O14787	TNPO2_HUMAN		21	2469	-			O14655|Q6IN77	Silent	SNP	ENST00000592287.1	1	0	hg19	c.2361C>T	CCDS45991.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	0	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_013433			42	41		173	172	1		1	1		0	0	27	0		1	1	0	37	0	89	0	42	173
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	rs186539758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000592273.1_Intron|C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16684	0.001		0.0	False		,,,				2504	0.0					ENST00000242784.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(364-366)Ggg>Agg		chromosome 19 open reading frame 43							151.0	123.0	133.0					19																	12842217		2203	4300	6503	SO:0001583	missense	79002	2	121412	34				g.chr19:12842217C>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.364G>A	chr19.hg19:g.12842217C>T	ENSP00000242784:p.Gly122Arg	0					C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	p.G122R	NM_024038.2	NP_076943.1	1	2	3	2.010022	Q9BQ61	CS043_HUMAN		2	481	-				Missense_Mutation	SNP	ENST00000242784.4	1	1	hg19	c.364G>A	CCDS12279.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	0	C19orf43	12703217	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	1	0	1		19	19	2	1		1	1	65		65	65	1	2.060000	-2.631014	1	0.170000	NM_024038			68	64		308	303	1		1	1		1	0	65	0		1	1	0	90	0	301	0	68	308
BEST2	54831	broad.mit.edu	37	19	12863439	12863439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000553030.1_Silent_p.N11N|BEST2_ENST00000042931.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2	11					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652																																						ENST00000549706.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(31-33)aaC>aaT		bestrophin 2							51.0	54.0	53.0					19																	12863439		2102	4225	6327	SO:0001819	synonymous_variant	54831	5	121074	38				g.chr19:12863439C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.33C>T	chr19.hg19:g.12863439C>T		0					BEST2_ENST00000042931.1_Silent_p.N11N|BEST2_ENST00000553030.1_Silent_p.N11N	p.N11N			1	2	3	2.010022	Q8NFU1	BEST2_HUMAN		2	357	+			Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	1	1	hg19	c.33C>T	CCDS42506.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.816328	1	0.170000	NM_017682			57	58		305	303	0		1			0	0	57	0		1	0	0	0	0	0	0	57	305
BEST2	54831	broad.mit.edu	37	19	12865583	12865583	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12865583C>G	ENST00000549706.1	+	4	789	c.465C>G	c.(463-465)gaC>gaG	p.D155E	BEST2_ENST00000553030.1_Missense_Mutation_p.D155E|BEST2_ENST00000042931.1_Missense_Mutation_p.D155E			Q8NFU1	BEST2_HUMAN	bestrophin 2	155					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CCACCATAGACCACGTGGTGG	0.667																																						ENST00000549706.1	1.000000	0.560000	1	9.100000e-01	0.990000	0.954146	0.990000	1.000000																										0				12						c.(463-465)gaC>gaG		bestrophin 2							18.0	19.0	19.0					19																	12865583		2156	4265	6421	SO:0001583	missense	54831	0	0					g.chr19:12865583C>G	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.465C>G	chr19.hg19:g.12865583C>G	ENSP00000448310:p.Asp155Glu	0					BEST2_ENST00000042931.1_Missense_Mutation_p.D155E|BEST2_ENST00000553030.1_Missense_Mutation_p.D155E	p.D155E			1	2	3	2.010022	Q8NFU1	BEST2_HUMAN		4	789	+			Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	0	0	hg19	c.465C>G	CCDS42506.1	1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831261	0.32329	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98280	-4.84;-4.84;-4.84	4.24	0.872	0.19113	4.24	0.872	0.19113	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	N	0.05510	-0.035	0.42002	D	0.990899	B	0.20261	0.043	B	0.23716	0.048	D	0.83435	0.0040	10	0.17832	T	0.49	-31.6577	8.4859	0.33071	0.0:0.7309:0.0:0.2691	.	155	Q8NFU1	BEST2_HUMAN	E	155	ENSP00000448310:D155E;ENSP00000447203:D155E;ENSP00000042931:D155E	ENSP00000042931:D155E	D	+	3	2	2	BEST2	12726583	12726583	0.980000	0.34600	0.999000	0.59377	0.981000	0.71138	0.270000	0.18607	0.049000	0.15920	0.462000	0.41574	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-11.268800	1	0.170000	NM_017682			5	5		37	36	1		1			0	0	8	0		9.377002e-01	0	0	0	0	0	0	5	37
HOOK2	29911	broad.mit.edu	37	19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000397668.3	-	21	1968	c.1895G>T	c.(1894-1896)aGg>aTg	p.R632M	HOOK2_ENST00000264827.5_Missense_Mutation_p.R630M|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597																																						ENST00000397668.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1894-1896)aGg>aTg		hook microtubule-tethering protein 2							74.0	83.0	80.0					19																	12874525		2194	4299	6493	SO:0001583	missense	29911	0	0					g.chr19:12874525C>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1895G>T	chr19.hg19:g.12874525C>A	ENSP00000380785:p.Arg632Met	0					HOOK2_ENST00000264827.5_Missense_Mutation_p.R630M|HOOK2_ENST00000589965.1_5'Flank	p.R632M	NM_013312.2	NP_037444.2	1	2	3	2.010022	Q96ED9	HOOK2_HUMAN		21	1968	-			O60562	Missense_Mutation	SNP	ENST00000397668.3	1	1	hg19	c.1895G>T	CCDS42508.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599770	0.46318	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19250	2.16;2.16	5.72	3.61	0.41365	5.72	3.61	0.41365	.	0.109028	0.64402	D	0.000010	T	0.27419	0.0673	M	0.65975	2.015	0.28849	N	0.896173	P;P	0.42203	0.731;0.773	B;P	0.44518	0.323;0.452	T	0.16988	-1.0384	10	0.87932	D	0	-23.7645	10.0714	0.42335	0.0:0.8369:0.0:0.1631	.	630;632	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	632;630	ENSP00000380785:R632M;ENSP00000264827:R630M	ENSP00000264827:R630M	R	-	2	0	0	HOOK2	12735525	12735525	1.000000	0.71417	0.963000	0.40424	0.124000	0.20399	1.053000	0.30442	1.424000	0.47217	0.650000	0.86243	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.039555	1	0.170000	NM_013312			93	93		389	384	1		1	1		0	0	87	0		1	1	0	60	0	64	0	93	389
HOOK2	29911	broad.mit.edu	37	19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000397668.3	-	10	882	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000264827.5_Missense_Mutation_p.E270G|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	270	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCTCCCTCTCCAGCTCGGC	0.667																																						ENST00000397668.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999263	0.990000	1.000000																										0				20						c.(808-810)gAg>gGg		hook microtubule-tethering protein 2							25.0	29.0	28.0					19																	12881839		2051	4182	6233	SO:0001583	missense	29911	0	0					g.chr19:12881839T>C	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.809A>G	chr19.hg19:g.12881839T>C	ENSP00000380785:p.Glu270Gly	0					HOOK2_ENST00000264827.5_Missense_Mutation_p.E270G|HOOK2_ENST00000589965.1_Intron	p.E270G	NM_013312.2	NP_037444.2	1	2	3	2.010022	Q96ED9	HOOK2_HUMAN		10	882	-			O60562	Missense_Mutation	SNP	ENST00000397668.3	1	1	hg19	c.809A>G	CCDS42508.1	1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.208267	0.79240	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.8;1.8	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.127143	0.50627	D	0.000108	T	0.49218	0.1544	M	0.85462	2.755	0.41274	D	0.98686	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.58940	-0.7547	10	0.87932	D	0	-19.5424	13.3357	0.60516	0.0:0.0:0.0:1.0	.	270;270	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	G	270	ENSP00000380785:E270G;ENSP00000264827:E270G	ENSP00000264827:E270G	E	-	2	0	0	HOOK2	12742839	12742839	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.687000	0.84139	1.804000	0.52760	0.373000	0.22412	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_013312			22	22		135	131	1		1	1		0	0	39	0		9.999990e-01	9.999873e-01	0	44	0	76	0	22	135
JUNB	3726	broad.mit.edu	37	19	12903500	12903500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	305	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677																																						ENST00000302754.4	1.000000	0.440000	1	7.700000e-01	0.990000	0.919310	0.990000	1.000000																										0				6						c.(913-915)gcC>gcT		jun B proto-oncogene							20.0	21.0	21.0					19																	12903500		2196	4294	6490	SO:0001819	synonymous_variant	3726	0	0					g.chr19:12903500C>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.915C>T	chr19.hg19:g.12903500C>T		0						p.A305A	NM_002229.2	NP_002220.1	1	2	3	2.010022	P17275	JUNB_HUMAN		1	1191	+			Q96GH3	Silent	SNP	ENST00000302754.4	0	1	hg19	c.915C>T	CCDS12280.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-10.096210	1	0.170000	NM_002229			4	4		35	35	1		1	1		0	0	11	0		8.938682e-01	9.999953e-01	0	118	0	470	0	4	35
PRDX2	7001	broad.mit.edu	37	19	12910731	12910731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12910731G>A	ENST00000301522.2	-	5	581	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Intron	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	151	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTCATCCACGGAGCGTCCCA	0.552																																						ENST00000301522.2	1.000000	0.140000	4.400000e-01	2.000000e-01	0.290000	0.358576	0.290000	0.270000																										0				4						c.(451-453)tcC>tcT		peroxiredoxin 2							128.0	105.0	113.0					19																	12910731		2203	4300	6503	SO:0001819	synonymous_variant	7001	1	121412	31				g.chr19:12910731G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.453C>T	chr19.hg19:g.12910731G>A		0					PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	p.S151S	NM_005809.4	NP_005800.3	1	2	3	2.010022	P32119	PRDX2_HUMAN		5	581	-			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	1	1	hg19	c.453C>T	CCDS12281.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	0	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-2.979187	1	0.170000	NM_005809			9	9		377	370	0		1	1		0	0	100	0		9.938535e-01	9.999810e-01	0	39	0	979	0	9	377
RNASEH2A	10535	broad.mit.edu	37	19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	298					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)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532																																						ENST00000221486.4	1.000000	0.820000	1	9.800000e-01	0.990000	0.984037	0.990000	1.000000																										0				14						c.(892-894)aGc>aTc		ribonuclease H2, subunit A							60.0	55.0	57.0					19																	12924273		2203	4300	6503	SO:0001583	missense	10535	0	0					g.chr19:12924273G>T	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.893G>T	chr19.hg19:g.12924273G>T	ENSP00000221486:p.Ser298Ile	0						p.S298I	NM_006397.2	NP_006388.2	1	2	3	2.010022	O75792	RNH2A_HUMAN		8	987	+			B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	1	1	hg19	c.893G>T	CCDS12282.1	1	.	.	.	.	.	.	.	.	.	.	G	9.021	0.984866	0.18889	.	.	ENSG00000104889	ENST00000221486	D	0.82984	-1.67	4.06	-5.83	0.02325	4.06	-5.83	0.02325	.	1.265410	0.05450	N	0.549285	T	0.71736	0.3375	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53878	-0.8376	10	0.39692	T	0.17	-2.3073	2.6883	0.05113	0.1069:0.1625:0.392:0.3386	.	298	O75792	RNH2A_HUMAN	I	298	ENSP00000221486:S298I	ENSP00000221486:S298I	S	+	2	0	0	RNASEH2A	12785273	12785273	0.000000	0.05858	0.017000	0.16124	0.800000	0.45204	-0.203000	0.09438	-0.960000	0.03613	-0.211000	0.12701	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_006397			33	32		306	300	1		1	1		0	0	89	0		1	9.984709e-01	0	23	0	70	0	33	306
MAST1	22983	broad.mit.edu	37	19	12958425	12958425	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCCCGCAGCCCCGGGCGC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999064	0.990000	1.000000																										0				56						c.e6-1		microtubule associated serine/threonine kinase 1							39.0	43.0	42.0					19																	12958425		2203	4300	6503	SO:0001630	splice_region_variant	22983	0	0					g.chr19:12958425G>T	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.489-1G>T	chr19.hg19:g.12958425G>T		0		OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Splice_Site		NM_014975.2	NP_055790.1	1	2	3	2.010022				6	527	+				Splice_Site	SNP	ENST00000251472.4	1	1	hg19		CCDS32921.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329179	0.81690	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.66	3.6	0.41247	4.66	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.0:0.8282:0.1718	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAST1	12819425	12819425	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	9.693000	0.98684	1.083000	0.41159	0.491000	0.48974	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_014975	Intron		38	37		282	278	1		1			0	0	60	0		1	0	0	0	0	0	0	38	282
MAST1	22983	broad.mit.edu	37	19	12963203	12963203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGACGATCTCTCTGAGGTAA	0.592																																						ENST00000251472.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1069-1071)ctC>ctT		microtubule associated serine/threonine kinase 1							91.0	72.0	78.0					19																	12963203		2203	4300	6503	SO:0001819	synonymous_variant	22983	0	0					g.chr19:12963203C>T	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.1071C>T	chr19.hg19:g.12963203C>T		0					MAST1_ENST00000591495.1_Silent_p.L353L	p.L357L	NM_014975.2	NP_055790.1	1	2	3	2.010022				10	1110	+				Silent	SNP	ENST00000251472.4	1	1	hg19	c.1071C>T	CCDS32921.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.096801	1	0.170000	NM_014975			53	52		273	269	1		1	0		0	0	70	0		1	1.301836e-01	0	0	0	4	0	53	273
MAST1	22983	broad.mit.edu	37	19	12976850	12976850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGACAGGGCTGCTGAGGCA	0.592																																						ENST00000251472.4	1.000000	0.220000	6.500000e-01	3.200000e-01	0.450000	0.502123	0.450000	0.420000																										0				56						c.(1963-1965)Ctg>Ttg		microtubule associated serine/threonine kinase 1							65.0	59.0	61.0					19																	12976850		2203	4300	6503	SO:0001819	synonymous_variant	22983	0	0					g.chr19:12976850C>T	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.1963C>T	chr19.hg19:g.12976850C>T		0						p.L655L	NM_014975.2	NP_055790.1	1	2	3	2.010022				17	2002	+				Silent	SNP	ENST00000251472.4	1	1	hg19	c.1963C>T	CCDS32921.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-11.144910	1	0.170000	NM_014975			10	10		268	264	0		1			0	0	50	0		9.967983e-01	0	0	0	0	0	0	10	268
MAST1	22983	broad.mit.edu	37	19	12977513	12977513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACGAGGATGACACGACGGAGG	0.617																																						ENST00000251472.4	1.000000	0.890000	1	9.900000e-01	0.990000	0.993834	0.990000	1.000000																										0				56						c.(2074-2076)gaC>gaT		microtubule associated serine/threonine kinase 1							78.0	56.0	63.0					19																	12977513		2203	4300	6503	SO:0001819	synonymous_variant	22983	2	121408	23				g.chr19:12977513C>T	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.2076C>T	chr19.hg19:g.12977513C>T		0						p.D692D	NM_014975.2	NP_055790.1	1	2	3	2.010022				18	2115	+				Silent	SNP	ENST00000251472.4	1	1	hg19	c.2076C>T	CCDS32921.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_014975			20	20		151	147	1		1	0		0	0	34	0		9.999959e-01	4.200917e-02	0	0	0	3	0	20	151
GCDH	2639	broad.mit.edu	37	19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L|GCDH_ENST00000457854.1_Missense_Mutation_p.S139L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	139	Substrate binding.		S -> L (in GA1).		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)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GGCTACAGGTCGGCGATGAGT	0.622																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996763	0.990000	1.000000																										0				19	GRCh37	CM980855	GCDH	M	rs139851890	c.(415-417)tCg>tTg		glutaryl-CoA dehydrogenase	Flavin adenine dinucleotide(DB03147)	C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	130.0	98.0	109.0		416,416	5.2	1.0	19	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GCDH	NM_000159.2,NM_013976.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	139/439,139/429	13004378	1,13005	2203	4300	6503	SO:0001583	missense	2639	1	121412	36				g.chr19:13004378C>T	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.416C>T	chr19.hg19:g.13004378C>T	ENSP00000222214:p.Ser139Leu	0					GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L|GCDH_ENST00000422947.2_Missense_Mutation_p.S95L	p.S139L			1	2	3	2.010022	Q92947	GCDH_HUMAN		6	627	+			A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	1	1	hg19	c.416C>T	CCDS12286.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.491649	0.96339	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99652	-6.3;-6.3;-6.3	5.19	5.19	0.71726	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	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	0.97110	1.0;0.985;1.0;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	95;106;139;139	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	139;139;106;95	ENSP00000394872:S139L;ENSP00000222214:S139L;ENSP00000394821:S95L	ENSP00000222214:S139L	S	+	2	0	0	GCDH	12865378	12865378	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.247000	0.78257	2.584000	0.87258	0.563000	0.77884	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1	0	0	1		2	6	2	1		1	0	77		77	76	1	2.060000	-3.142702	1	0.170000				49	49		418	407	1		1	1		1	0	77	0		1	9.377984e-01	0	9	0	88	0	49	418
GCDH	2639	broad.mit.edu	37	19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y|GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	368					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)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAGATGGTTTCTCTGCTGAAG	0.602																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1102-1104)tCt>tAt		glutaryl-CoA dehydrogenase	Flavin adenine dinucleotide(DB03147)						122.0	131.0	128.0					19																	13008537		2203	4300	6503	SO:0001583	missense	2639	0	0					g.chr19:13008537C>A	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.1103C>A	chr19.hg19:g.13008537C>A	ENSP00000222214:p.Ser368Tyr	0					GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y|GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y	p.S368Y			1	2	3	2.010022	Q92947	GCDH_HUMAN		11	1314	+			A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	1	1	hg19	c.1103C>A	CCDS12286.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334551	0.81801	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96967	-4.19;-4.19;-4.19	5.6	5.6	0.85130	5.6	5.6	0.85130	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.99794	4.785	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	0.98591	1.0654	10	0.87932	D	0	.	17.0969	0.86637	0.0:1.0:0.0:0.0	.	324;204;368;368	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	Y	368;368;324	ENSP00000394872:S368Y;ENSP00000222214:S368Y;ENSP00000394821:S324Y	ENSP00000222214:S368Y	S	+	2	0	0	GCDH	12869537	12869537	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	7.420000	0.80191	2.644000	0.89710	0.655000	0.94253	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1	0	0	1		2	2	2	0		0	0	246		246	243	1	2.060000	-20.000000	1	0.170000				227	224		953	942	1		1	1		0	0	246	0		1	9.999985e-01	0	27	0	52	0	227	953
SYCE2	256126	broad.mit.edu	37	19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547																																						ENST00000293695.7	1.000000	0.260000	5.200000e-01	3.200000e-01	0.400000	0.454003	0.400000	0.400000																										0				8						c.(160-162)Ggg>Tgg		synaptonemal complex central element protein 2							138.0	141.0	140.0					19																	13015452		2157	4274	6431	SO:0001583	missense	256126	0	0					g.chr19:13015452C>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.160G>T	chr19.hg19:g.13015452C>A	ENSP00000293695:p.Gly54Trp	0					SYCE2_ENST00000591229.1_5'UTR	p.G54W	NM_001105578.1	NP_001099048.1	1	2	3	2.010022	Q6PIF2	SYCE2_HUMAN		3	178	-			B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	1	1	hg19	c.160G>T	CCDS42509.1	0	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229193	0.58777	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.566735	0.15904	N	0.238906	T	0.53932	0.1827	L	0.36672	1.1	0.28317	N	0.922397	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	9	0.87932	D	0	0.0377	12.6762	0.56895	0.0:1.0:0.0:0.0	.	54	Q6PIF2	SYCE2_HUMAN	W	54	.	ENSP00000293695:G54W	G	-	1	0	0	SYCE2	12876452	12876452	0.984000	0.35163	0.999000	0.59377	0.764000	0.43329	1.881000	0.39638	2.353000	0.79882	0.462000	0.41574	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	0	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-2.343747	0	0.170000	XM_497609			24	23		700	672	0		1	0		0	0	178	0		9.999994e-01	7.029001e-03	0	1	0	3	0	24	700
CALR	811	broad.mit.edu	37	19	13054419	13054419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000541222.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	343	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|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)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592																																						ENST00000316448.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1027-1029)ggC>ggT		calreticulin	Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)						155.0	121.0	133.0					19																	13054419		2203	4300	6503	SO:0001819	synonymous_variant	811	0	0					g.chr19:13054419C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1029C>T	chr19.hg19:g.13054419C>T		0					RAD23A_ENST00000592268.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000541222.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000586534.1_5'Flank	p.G343G	NM_004343.3	NP_004334.1	1	2	3	2.010022	P27797	CALR_HUMAN		8	1102	+			Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	1	1	hg19	c.1029C>T	CCDS12288.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.238852	1	0.170000	NM_004343			48	45		254	246	1		1	1		0	0	76	0		1	1	0	1496	0	4266	0	48	254
RAD23A	5886	broad.mit.edu	37	19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	183	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632								Nucleotide excision repair (NER)																														ENST00000586534.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(547-549)Gcc>Acc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							92.0	96.0	95.0					19																	13059574		2203	4300	6503	SO:0001583	missense	5886	0	0					g.chr19:13059574G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.547G>A	chr19.hg19:g.13059574G>A	ENSP00000467024:p.Ala183Thr	0					RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000588826.2_3'UTR	p.A183T			1	2	3	2.010022	P54725	RD23A_HUMAN		5	608	+			K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	1	1	hg19	c.547G>A	CCDS12289.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032357	0.93575	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.64618	-0.11;-0.11	4.61	4.61	0.57282	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	D	0.91040	0.4870	10	0.72032	D	0.01	-43.2666	16.2132	0.82185	0.0:0.0:1.0:0.0	.	183;200;183	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	183;18	ENSP00000321365:A183T;ENSP00000438741:A18T	ENSP00000321365:A183T	A	+	1	0	0	RAD23A	12920574	12920574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.974000	0.93433	2.110000	0.64415	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	1	0	1		2	2	2	0		0	0	189		189	187	1	2.060000	-20.000000	1	0.170000	NM_005053			189	187		830	822	1		1	1		0	0	189	0		1	1	0	139	0	389	0	189	830
NFIX	4784	broad.mit.edu	37	19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000592199.1	+	8	1096	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	366					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|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)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGGGCCACAGCATCAGCCCT	0.662																																						ENST00000592199.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(1096-1098)Gca>Tca		nuclear factor I/X (CCAAT-binding transcription factor)							48.0	58.0	55.0					19																	13192511		2151	4246	6397	SO:0001583	missense	4784	0	0					g.chr19:13192511G>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1096G>T	chr19.hg19:g.13192511G>T	ENSP00000467512:p.Ala366Ser	0					NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S	p.A366S			1	2	3	2.010022	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)	8	1096	+			B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	1	1	hg19	c.1096G>T		1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592520	0.46214	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.053036	0.85682	D	0.000000	T	0.56863	0.2014	L	0.52364	1.645	0.51233	D	0.999917	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.987;0.998;0.994	T	0.44452	-0.9327	10	0.07482	T	0.82	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	374;365;328;366;366	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	S	366;366;328;324	ENSP00000380781:A366S;ENSP00000351354:A324S	ENSP00000264825:A328S	A	+	1	0	0	NFIX	13053511	13053511	1.000000	0.71417	0.448000	0.26945	0.969000	0.65631	4.895000	0.63214	2.755000	0.94549	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_002501			40	40		212	208	0		1	1		0	0	37	0		1	1	0	33	0	188	0	40	212
NACC1	112939	broad.mit.edu	37	19	13246051	13246051	+	Silent	SNP	G	G	A	rs376533294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	10					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622																																						ENST00000292431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(28-30)ccG>ccA		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							44.0	39.0	41.0					19																	13246051		2203	4300	6503	SO:0001819	synonymous_variant	112939	0	0					g.chr19:13246051G>A	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.30G>A	chr19.hg19:g.13246051G>A		0					AC005546.2_ENST00000591837.1_lincRNA	p.P10P	NM_052876.3	NP_443108.1	1	2	3	2.010022	Q96RE7	NACC1_HUMAN		2	156	+				Silent	SNP	ENST00000292431.4	1	1	hg19	c.30G>A	CCDS12294.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.411194	1	0.170000	NM_052876			40	40		188	188	1		1	1		0	0	50	0		1	9.999154e-01	0	17	0	53	0	40	188
NACC1	112939	broad.mit.edu	37	19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647																																						ENST00000292431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(226-228)caG>caT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							34.0	35.0	35.0					19																	13246249		2203	4300	6503	SO:0001583	missense	112939	0	0					g.chr19:13246249G>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.228G>T	chr19.hg19:g.13246249G>T	ENSP00000292431:p.Gln76His	0						p.Q76H	NM_052876.3	NP_443108.1	1	2	3	2.010022	Q96RE7	NACC1_HUMAN		2	354	+				Missense_Mutation	SNP	ENST00000292431.4	1	1	hg19	c.228G>T	CCDS12294.1	1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919900	0.52653	.	.	ENSG00000160877	ENST00000292431	T	0.67698	-0.28	5.05	4.01	0.46588	5.05	4.01	0.46588	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.31207	0.915	0.42308	D	0.992207	D	0.76494	0.999	D	0.70716	0.97	T	0.70887	-0.4750	10	0.51188	T	0.08	.	11.2422	0.48977	0.0898:0.0:0.9102:0.0	.	76	Q96RE7	NACC1_HUMAN	H	76	ENSP00000292431:Q76H	ENSP00000292431:Q76H	Q	+	3	2	2	NACC1	13107249	13107249	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.681000	0.37618	1.129000	0.42072	0.650000	0.86243	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_052876			73	72		274	268	1		1	1		0	0	49	0		1	1	0	35	0	80	0	73	274
NACC1	112939	broad.mit.edu	37	19	13246954	13246954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	311					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617																																						ENST00000292431.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				9						c.(931-933)aaC>aaT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							138.0	119.0	125.0					19																	13246954		2203	4300	6503	SO:0001819	synonymous_variant	112939	2	121408	31				g.chr19:13246954C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.933C>T	chr19.hg19:g.13246954C>T		0						p.N311N	NM_052876.3	NP_443108.1	1	2	3	2.010022	Q96RE7	NACC1_HUMAN		2	1059	+				Silent	SNP	ENST00000292431.4	1	1	hg19	c.933C>T	CCDS12294.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_052876			38	37		194	192	1		1	1		0	0	39	0		1	9.999996e-01	0	35	0	85	0	38	194
STX10	8677	broad.mit.edu	37	19	13256126	13256126	+	Silent	SNP	G	G	A	rs201520323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000587230.1	-	5	511	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000589083.1_Silent_p.I149I	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	149					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGCTCCTCGATGTAGCGAG	0.617																																						ENST00000587230.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(445-447)atC>atT		syntaxin 10							51.0	47.0	48.0					19																	13256126		2203	4300	6503	SO:0001819	synonymous_variant	8677	1	121406	36				g.chr19:13256126G>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.447C>T	chr19.hg19:g.13256126G>A		0					STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000589083.1_Silent_p.I149I|STX10_ENST00000242770.5_Silent_p.I149I	p.I149I	NM_001271609.1	NP_001258538.1	1	2	3	2.010022	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)	5	511	-			A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	1	1	hg19	c.447C>T	CCDS32922.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.535615	1	0.170000	NM_003765			38	38		153	149	1		1	1		0	0	50	0		1	1	0	54	0	176	0	38	153
CACNA1A	773	broad.mit.edu	37	19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	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	1959					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)			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)	GATCATCATGGCTGCGTAGAT	0.642																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997730	0.990000	1.000000																										0				42						c.(5872-5874)gCc>gAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						37.0	41.0	40.0					19																	13325114		2169	4272	6441	SO:0001583	missense	773	0	0					g.chr19:13325114G>T	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.5873C>A	chr19.hg19:g.13325114G>T	ENSP00000353362:p.Ala1958Asp	0					CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	p.A1958D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	40	5872	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.5873C>A	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562411	0.65538	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.72394	-0.65	4.72	4.72	0.59763	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	D	0.85729	0.1330	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1959;1964;1958;1959	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	D	1958;1964;1959;1959	ENSP00000353362:A1958D	ENSP00000317661:A1959D	A	-	2	0	0	CACNA1A	13186114	13186114	1.000000	0.71417	0.989000	0.46669	0.868000	0.49771	9.353000	0.97080	2.184000	0.69523	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_000068			18	17		116	113	1		1	0		0	0	28	0		9.999846e-01	4.621271e-01	0	0	0	11	0	18	116
CACNA1A	773	broad.mit.edu	37	19	13345818	13345818	+	Silent	SNP	G	G	A	rs200501726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000573710.2_Silent_p.D1723D|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	1723					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)			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)	CACTGTCCTCGTCCTCCACGT	0.542											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(5164-5166)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	G	,,,,	0,4136		0,0,2068	161.0	166.0	164.0		5184,5169,5166,5175,5184	-10.0	0.7	19		164	1,8383		0,1,4191	yes	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	,,,,	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	,,,,	1728/2267,1723/2262,1722/2507,1725/2264,1728/2513	13345818	1,12519	2068	4192	6260	SO:0001819	synonymous_variant	773	3	121018	39				g.chr19:13345818G>A	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.5166C>T	chr19.hg19:g.13345818G>A		0		OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Silent_p.D1723D|CACNA1A_ENST00000574822.1_5'UTR	p.D1722D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	34	5165	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	1	1	hg19	c.5166C>T	CCDS45998.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		17	2	2	0		0	1	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_000068			124	121		514	504	1		1	0		0	0	127	0		1	1.741308e-01	0	0	0	4	0	124	514
CACNA1A	773	broad.mit.edu	37	19	13356068	13356068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000573710.2_Silent_p.R1627R|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	1627					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)			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)	TCCAGGCATCGCGGAAATAAT	0.552																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				42						c.(4876-4878)cgC>cgT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						80.0	79.0	80.0					19																	13356068		1946	4136	6082	SO:0001819	synonymous_variant	773	2	120880	31				g.chr19:13356068G>A	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.4878C>T	chr19.hg19:g.13356068G>A		0					CACNA1A_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	p.R1626R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	31	4877	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	1	1	hg19	c.4878C>T	CCDS45998.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000068			39	39		236	228	1		1	0		0	0	61	0		1	5.747911e-02	0	0	0	3	0	39	236
CACNA1A	773	broad.mit.edu	37	19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	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	1457			V -> L (in FHM1; dbSNP:rs121908237). {ECO:0000269|PubMed:10408532}.		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)			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)	TCTCCCGTGGACACGGTGAAG	0.552																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999929	0.990000	1.000000																										0				42						c.(4366-4368)Tcc>Ccc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						42.0	44.0	43.0					19																	13370400		1953	4136	6089	SO:0001583	missense	773	0	0					g.chr19:13370400A>G	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.4366T>C	chr19.hg19:g.13370400A>G	ENSP00000353362:p.Ser1456Pro	0					CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	p.S1456P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	27	4365	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.4366T>C	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510055	0.64522	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98531	-4.98	4.88	4.88	0.63580	4.88	4.88	0.63580	Ion transport (1);	0.137604	0.49916	D	0.000130	D	0.99102	0.9691	M	0.92604	3.325	0.58432	D	0.999997	P;P;D	0.89917	0.883;0.928;1.0	P;P;D	0.91635	0.747;0.703;0.999	D	0.99414	1.0931	10	0.72032	D	0.01	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	1457;1460;1456	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1456;1460;1457;1457;73	ENSP00000353362:S1456P	ENSP00000317661:S1457P	S	-	1	0	0	CACNA1A	13231400	13231400	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.337000	0.96545	1.838000	0.53458	0.459000	0.35465	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-13.129950	1	0.170000	NM_000068			15	14		50	47	0		1	0		0	0	14	0		9.998974e-01	4.359368e-01	0	0	0	6	0	15	50
CACNA1A	773	broad.mit.edu	37	19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	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	811					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)			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)	TGGCCGCAGGTGCCGCGTGTA	0.647																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2428-2430)cAc>cGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						44.0	52.0	49.0					19																	13410018		2028	4151	6179	SO:0001583	missense	773	0	0					g.chr19:13410018T>C	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.2429A>G	chr19.hg19:g.13410018T>C	ENSP00000353362:p.His810Arg	0					CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	p.H810R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	19	2428	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.2429A>G	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145636	0.06627	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.86	1.48	0.22813	3.86	1.48	0.22813	.	3.771970	0.00960	N	0.003099	D	0.90621	0.7059	N	0.25485	0.75	0.22354	N	0.99917	B;P;P	0.38335	0.012;0.467;0.627	B;B;B	0.32022	0.007;0.132;0.139	T	0.82343	-0.0504	10	0.22706	T	0.39	.	9.1483	0.36946	0.0:0.0:0.4829:0.5171	.	811;814;810	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	R	810;814;811;811	ENSP00000353362:H810R	ENSP00000317661:H811R	H	-	2	0	0	CACNA1A	13271018	13271018	0.042000	0.20092	0.850000	0.33497	0.067000	0.16453	0.422000	0.21296	0.052000	0.16007	0.374000	0.22700	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000068			60	60		316	307	1		1	0		0	0	49	0		1	2.639918e-02	0	0	0	2	0	60	316
CACNA1A	773	broad.mit.edu	37	19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	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	596					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)			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)	AGATGCCCAGTACCTGCCGAC	0.582																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				42						c.(1783-1785)tAc>tGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						55.0	59.0	58.0					19																	13419063		2112	4244	6356	SO:0001583	missense	773	0	0					g.chr19:13419063T>C	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.1784A>G	chr19.hg19:g.13419063T>C	ENSP00000353362:p.Tyr595Cys	0					CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	p.Y595C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	14	1783	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.1784A>G	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221312	0.58560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98531	-4.98	5.12	5.12	0.69794	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99121	0.9697	M	0.92555	3.32	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	13.9098	0.63860	0.0:0.0:0.0:1.0	.	596;596;595	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	595;596;596;596	ENSP00000353362:Y595C	ENSP00000317661:Y596C	Y	-	2	0	0	CACNA1A	13280063	13280063	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.923000	0.55706	0.533000	0.62120	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_000068			23	23		110	107	1		1	0		0	0	28	0		9.999996e-01	2.911076e-01	0	0	0	6	0	23	110
CACNA1A	773	broad.mit.edu	37	19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A	rs377011125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	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	482					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.R482C(3)		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)	TTGACCATGCGGCGGATGTAG	0.512																																						ENST00000360228.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										3	Substitution - Missense(3)	p.R482C(3)	endometrium(3)	42						c.(1441-1443)Cgc>Tgc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3990		0,0,1995	73.0	76.0	75.0		1444,1444,1441,1444,1444	4.7	1.0	19		75	1,8317		0,1,4158	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	180,180,180,180,180	0,1,6153	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	482/2267,482/2262,481/2507,482/2264,482/2513	13428040	1,12307	1995	4159	6154	SO:0001583	missense	773	3	120878	34				g.chr19:13428040G>A	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.1441C>T	chr19.hg19:g.13428040G>A	ENSP00000353362:p.Arg481Cys	0					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	p.R481C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.010022	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	11	1440	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.1441C>T	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347420	0.41599	0.0	1.2E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96365	-3.99	5.76	4.73	0.59995	5.76	4.73	0.59995	.	0.218239	0.39274	N	0.001415	D	0.98277	0.9429	M	0.89785	3.06	0.47949	D	0.999551	B;D;B	0.89917	0.246;1.0;0.246	B;D;B	0.85130	0.008;0.997;0.008	D	0.99066	1.0832	10	0.72032	D	0.01	.	13.7078	0.62651	0.0752:0.0:0.9248:0.0	.	482;482;481	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	481;482;482;482	ENSP00000353362:R481C	ENSP00000317661:R482C	R	-	1	0	0	CACNA1A	13289040	13289040	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.782000	0.68973	1.437000	0.47472	-0.136000	0.14681	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-14.466570	1	0.170000	NM_000068			21	21		93	91	1		1	0		0	0	28	0		9.999986e-01	3.728264e-02	0	0	0	2	0	21	93
NDUFS7	374291	broad.mit.edu	37	19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000233627.9	+	6	711	c.415G>A	c.(415-417)Gac>Aac	p.D139N	NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	139					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)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	CCAGGTCTACGACCAGATGCC	0.692																																						ENST00000233627.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(415-417)Gac>Aac		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	Doxorubicin(DB00997)						23.0	25.0	24.0					19																	1391124		2201	4299	6500	SO:0001583	missense	374291	0	0					g.chr19:1391124G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.415G>A	chr19.hg19:g.1391124G>A	ENSP00000233627:p.Asp139Asn	0					NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000540530.1_3'UTR|AC005329.7_ENST00000501448.1_RNA	p.D139N	NM_024407.4	NP_077718.3	1	2	3	2.010022	O75251	NDUS7_HUMAN		6	711	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	1	1	hg19	c.415G>A	CCDS12063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316424|2.316424	0.40996|0.40996	.|.	.|.	ENSG00000115286|ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382|ENST00000450862	T;T;T;T;T|.	0.78481|.	-1.18;-0.99;-1.18;-1.18;-1.18|.	4.44|4.44	4.44|4.44	0.53790|0.53790	4.44|4.44	4.44|4.44	0.53790|0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);|.	.|.	.|.	.|.	.|.	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.82630|0.82630	2.6|2.6	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|.	0.87578|.	0.988;0.994;0.998;0.991|.	T|T	0.65092|0.65092	-0.6252|-0.6252	9|6	0.87932|0.02654	D|T	0|1	.|.	10.4224|10.4224	0.44359|0.44359	0.0977:0.0:0.9023:0.0|0.0977:0.0:0.9023:0.0	.|.	139;146;139;139|.	F5H5N1;Q8NAS7;B3KRI2;O75251|.	.;.;.;NDUS7_HUMAN|.	N|Q	139;139;139;139;169;58;58;58;58|140	ENSP00000440348:D139N;ENSP00000233627:D139N;ENSP00000443273:D139N;ENSP00000364262:D139N;ENSP00000406630:D169N|.	ENSP00000233627:D139N|ENSP00000388398:R140Q	D|R	+|+	1|2	0|0	0|0	NDUFS7|NDUFS7	1342124|1342124	1342124|1342124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.176000|0.176000	0.22953|0.22953	7.182000|7.182000	0.77689|0.77689	2.016000|2.016000	0.59253|0.59253	0.511000|0.511000	0.50034|0.50034	GAC|CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	1	0	1		2	2	2	0		0	0	24		24	22	1	2.060000	-20.000000	1	0.170000	NM_024407			33	32		104	96	1		1	1		0	0	24	0		1	1	0	90	0	260	0	33	104
CCDC130	81576	broad.mit.edu	37	19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	143					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGAGACGGACGCCATG	0.662																																						ENST00000586600.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999865	0.990000	1.000000																										0				10						c.(427-429)aCg>aTg		coiled-coil domain containing 130							29.0	29.0	29.0					19																	13869941		2202	4298	6500	SO:0001583	missense	81576	2	121392	25				g.chr19:13869941C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.428C>T	chr19.hg19:g.13869941C>T	ENSP00000465776:p.Thr143Met	0					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M	p.T143M			1	2	3	2.010022	P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)	9	931	+			Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	1	1	hg19	c.428C>T	CCDS12296.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163654	0.57476	.	.	ENSG00000104957	ENST00000221554	T	0.30714	1.52	5.27	3.15	0.36227	5.27	3.15	0.36227	.	0.144833	0.64402	N	0.000009	T	0.24774	0.0601	L	0.48174	1.505	0.80722	D	1	P;P	0.39003	0.502;0.654	B;B	0.35770	0.21;0.21	T	0.02603	-1.1135	10	0.46703	T	0.11	-11.8772	9.6341	0.39798	0.0:0.8283:0.0:0.1717	.	143;143	B3KUZ1;P13994	.;CC130_HUMAN	M	143	ENSP00000221554:T143M	ENSP00000221554:T143M	T	+	2	0	0	CCDC130	13730941	13730941	0.999000	0.42202	0.609000	0.28983	0.993000	0.82548	4.152000	0.58111	0.625000	0.30304	0.561000	0.74099	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_030818			25	25		138	135	1		1	1		0	0	28	0		9.999999e-01	9.924954e-01	0	13	0	33	0	25	138
ZSWIM4	65249	broad.mit.edu	37	19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	656							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAAGACAGCCACCCCGGTCAG	0.667																																						ENST00000254323.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1966-1968)Acc>Gcc		zinc finger, SWIM-type containing 4							47.0	50.0	49.0					19																	13936465		2203	4300	6503	SO:0001583	missense	65249	0	0					g.chr19:13936465A>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1966A>G	chr19.hg19:g.13936465A>G	ENSP00000254323:p.Thr656Ala	0					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	p.T656A	NM_023072.2	NP_075560.2	1	2	3	2.010022	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)	11	2155	+				Missense_Mutation	SNP	ENST00000254323.2	1	1	hg19	c.1966A>G	CCDS32924.1	1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670200	0.47677	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48522	0.81;0.81	4.23	3.05	0.35203	4.23	3.05	0.35203	.	0.000000	0.52532	D	0.000074	T	0.47469	0.1447	M	0.71206	2.165	0.39259	D	0.964173	B;B	0.30563	0.015;0.285	B;B	0.36186	0.016;0.219	T	0.48151	-0.9060	10	0.56958	D	0.05	-21.304	7.6829	0.28524	0.8831:0.0:0.1169:0.0	.	490;656	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	656;490	ENSP00000254323:T656A;ENSP00000405278:T490A	ENSP00000254323:T656A	T	+	1	0	0	ZSWIM4	13797465	13797465	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.719000	0.68462	0.520000	0.28426	0.482000	0.46254	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	XM_031342			92	90		361	356	1		1	1		0	0	67	0		1	9.956247e-01	0	11	0	24	0	92	361
ZSWIM4	65249	broad.mit.edu	37	19	13941765	13941765	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13941765C>T	ENST00000254323.2	+	13	3060	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	ZSWIM4_ENST00000440752.2_Silent_p.P791P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	957							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGGCGCCCGACGGGCACC	0.582																																						ENST00000254323.2	1.000000	0.110000	3.700000e-01	1.700000e-01	0.250000	0.315560	0.250000	0.230000																										0				27						c.(2869-2871)ccC>ccT		zinc finger, SWIM-type containing 4							40.0	41.0	41.0					19																	13941765		2203	4300	6503	SO:0001819	synonymous_variant	65249	2	121408	36				g.chr19:13941765C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2871C>T	chr19.hg19:g.13941765C>T		0					ZSWIM4_ENST00000440752.2_Silent_p.P791P	p.P957P	NM_023072.2	NP_075560.2	1	2	3	2.010022	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)	13	3060	+				Silent	SNP	ENST00000254323.2	0	1	hg19	c.2871C>T	CCDS32924.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.945055	1	0.170000	XM_031342			9	10		449	439	0		1	0	0	0	0	74	0		9.937758e-01	6.026221e-02	0	0	0	18	1	9	449
NANOS3	342977	broad.mit.edu	37	19	13988311	13988311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000397555.2	+	2	192	c.192C>T	c.(190-192)aaC>aaT	p.N64N	MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000591727.1_Intron|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Silent_p.N83N	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	64					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662																																						ENST00000397555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(190-192)aaC>aaT		nanos homolog 3 (Drosophila)							46.0	55.0	52.0					19																	13988311		2191	4288	6479	SO:0001819	synonymous_variant	342977	1	121312	31				g.chr19:13988311C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.192C>T	chr19.hg19:g.13988311C>T		0					MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Silent_p.N83N|NANOS3_ENST00000591727.1_Intron	p.N64N	NM_001098622.2	NP_001092092.1	1	2	3	2.010022	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)	2	192	+			Q495E5	Silent	SNP	ENST00000397555.2	1	1	hg19	c.192C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	XM_292819			52	51		273	270	0		1			0	0	71	0		1	0	0	0	0	0	0	52	273
C19orf57	79173	broad.mit.edu	37	19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000586783.1	-	5	1141	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	381					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAAGGCCCTCCTGTGGCCTCC	0.667																																						ENST00000586783.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				14						c.(1141-1143)aGg>aTg		chromosome 19 open reading frame 57							26.0	24.0	25.0					19																	14000527		2203	4296	6499	SO:0001583	missense	79173	0	0					g.chr19:14000527C>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1142G>T	chr19.hg19:g.14000527C>A	ENSP00000465822:p.Arg381Met	0					C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M|C19orf57_ENST00000591586.1_Intron	p.R381M			1	2	3	2.010022	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)	5	1141	-			Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	1	1	hg19	c.1142G>T		1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950379	0.18431	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	3.06	-2.43	0.06522	3.06	-2.43	0.06522	.	0.700857	0.12983	N	0.423072	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	P;P	0.42871	0.792;0.564	B;B	0.38020	0.263;0.192	T	0.12400	-1.0549	10	0.46703	T	0.11	-0.0386	1.6074	0.02687	0.3606:0.3463:0.177:0.1161	.	381;381	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	M	381	ENSP00000404382:R381M;ENSP00000254336:R381M	ENSP00000254336:R381M	R	-	2	0	0	C19orf57	13861527	13861527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.204000	0.17335	-0.321000	0.08627	-0.140000	0.14226	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_024323			39	38		210	205	1		1	0		0	0	48	0		1	0	0	0	0	1	0	39	210
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667																																						ENST00000254337.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(592-594)gAt>gGt		DDB1 and CUL4 associated factor 15							29.0	27.0	28.0					19																	14067054		2201	4298	6499	SO:0001583	missense	90379	0	0					g.chr19:14067054A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.593A>G	chr19.hg19:g.14067054A>G	ENSP00000254337:p.Asp198Gly	0					PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	p.D198G	NM_138353.2	NP_612362.2	1	2	3	2.010022	Q66K64	DCA15_HUMAN		5	614	+			B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	1	1	hg19	c.593A>G	CCDS32926.1	1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	0	DCAF15	13928054	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_138353			41	40		188	186	1		1	1		0	0	39	0		1	9.999622e-01	0	19	0	55	0	41	188
DCAF15	90379	broad.mit.edu	37	19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A	rs369708095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	306					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701													G|||	4	0.000798722	0.0	0.0	5008	,	,		11150	0.0		0.0	False		,,,				2504	0.0041					ENST00000254337.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(916-918)cGt>cAt		DDB1 and CUL4 associated factor 15							27.0	34.0	32.0					19																	14069989		2203	4299	6502	SO:0001583	missense	90379	60	121372	48				g.chr19:14069989G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.917G>A	chr19.hg19:g.14069989G>A	ENSP00000254337:p.Arg306His	0						p.R306H	NM_138353.2	NP_612362.2	1	2	3	2.010022	Q66K64	DCA15_HUMAN		7	938	+			B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	1	1	hg19	c.917G>A	CCDS32926.1	1	.	.	.	.	.	.	.	.	.	.	g	5.964	0.361856	0.11296	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.65	2.51	0.30379	4.65	2.51	0.30379	.	1.602430	0.03963	U	0.290281	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999998	B	0.33964	0.434	B	0.29440	0.102	T	0.20075	-1.0286	9	0.30854	T	0.27	-3.0763	6.1558	0.20335	0.3277:0.0:0.6723:0.0	.	306	Q66K64	DCA15_HUMAN	H	306	.	ENSP00000254337:R306H	R	+	2	0	0	DCAF15	13930989	13930989	0.000000	0.05858	0.345000	0.25642	0.023000	0.10783	-0.092000	0.11129	0.380000	0.24823	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.330635	1	0.170000	NM_138353			84	82		423	413	0		1	1		0	0	72	0		1	9.671684e-01	0	7	0	23	0	84	423
DCAF15	90379	broad.mit.edu	37	19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	522					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1564-1566)gAc>gGc		DDB1 and CUL4 associated factor 15							143.0	125.0	131.0					19																	14071137		2203	4300	6503	SO:0001583	missense	90379	0	0					g.chr19:14071137A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1565A>G	chr19.hg19:g.14071137A>G	ENSP00000254337:p.Asp522Gly	0		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.D522G	NM_138353.2	NP_612362.2	1	2	3	2.010022	Q66K64	DCA15_HUMAN		11	1586	+			B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	1	1	hg19	c.1565A>G	CCDS32926.1	1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.428411	0.83667	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.066152	0.56097	D	0.000025	T	0.63674	0.2531	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.67573	-0.5636	9	0.87932	D	0	-26.636	12.4814	0.55844	1.0:0.0:0.0:0.0	.	522	Q66K64	DCA15_HUMAN	G	522	.	ENSP00000254337:D522G	D	+	2	0	0	DCAF15	13932137	13932137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	1.666000	0.50821	0.459000	0.35465	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_138353			86	85		403	399	1		1	1		0	0	111	0		1	1	0	21	0	103	0	86	403
RFX1	5989	broad.mit.edu	37	19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	491					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647																																						ENST00000254325.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1471-1473)Ctg>Atg		regulatory factor X, 1 (influences HLA class II expression)							52.0	51.0	51.0					19																	14080831		2203	4300	6503	SO:0001583	missense	5989	0	0					g.chr19:14080831G>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1471C>A	chr19.hg19:g.14080831G>T	ENSP00000254325:p.Leu491Met	0						p.L491M	NM_002918.4	NP_002909.4	1	2	3	2.010022	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)	10	1705	-				Missense_Mutation	SNP	ENST00000254325.4	1	1	hg19	c.1471C>A	CCDS12301.1	1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922568	0.73213	.	.	ENSG00000132005	ENST00000254325	D	0.85556	-2.0	4.89	3.79	0.43588	4.89	3.79	0.43588	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.91998	0.7465	M	0.85859	2.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.92113	0.5697	10	0.87932	D	0	-21.6286	10.9679	0.47422	0.1032:0.0:0.8968:0.0	.	491	P22670	RFX1_HUMAN	M	491	ENSP00000254325:L491M	ENSP00000254325:L491M	L	-	1	2	2	RFX1	13941831	13941831	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.068000	0.57534	0.929000	0.37192	0.563000	0.77884	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_002918			48	47		233	227	1		1	1		0	0	63	0		1	9.893375e-01	0	13	0	24	0	48	233
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622																																						ENST00000254325.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G451G(1)	lung(1)	21						c.(1351-1353)ggC>ggT		regulatory factor X, 1 (influences HLA class II expression)							62.0	59.0	60.0					19																	14080949		2203	4300	6503	SO:0001819	synonymous_variant	5989	0	0					g.chr19:14080949G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1353C>T	chr19.hg19:g.14080949G>A		0						p.G451G	NM_002918.4	NP_002909.4	1	2	3	2.010022	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)	10	1587	-				Silent	SNP	ENST00000254325.4	1	1	hg19	c.1353C>T	CCDS12301.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_002918			69	68		329	326	1		1	1		0	0	79	0		1	9.514106e-01	0	3	0	23	0	69	329
ASF1B	55723	broad.mit.edu	37	19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	157					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617																																						ENST00000263382.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				7						c.(469-471)aTg>aCg		anti-silencing function 1B histone chaperone							74.0	65.0	68.0					19																	14231410		2203	4300	6503	SO:0001583	missense	55723	0	0					g.chr19:14231410A>G	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.470T>C	chr19.hg19:g.14231410A>G	ENSP00000263382:p.Met157Thr	0					CTB-55O6.10_ENST00000590715.1_RNA|PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	p.M157T	NM_018154.2	NP_060624.1	1	2	3	2.010022	Q9NVP2	ASF1B_HUMAN		4	969	-			Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	1	1	hg19	c.470T>C	CCDS12306.1	1	.	.	.	.	.	.	.	.	.	.	a	0.383	-0.927845	0.02377	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	-3.06	0.05379	5.8	-3.06	0.05379	.	1.694630	0.02767	N	0.119296	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.06757	T	0.87	.	4.5182	0.11947	0.4499:0.0:0.3051:0.245	.	157	Q9NVP2	ASF1B_HUMAN	T	157	.	ENSP00000263382:M157T	M	-	2	0	0	ASF1B	14092410	14092410	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.439000	0.21575	-0.706000	0.05028	-0.783000	0.03347	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_018154			37	37		218	214	1		1	1		0	0	51	0		1	9.950107e-01	0	16	0	35	0	37	218
LPHN1	22859	broad.mit.edu	37	19	14266186	14266186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1098					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592																																						ENST00000340736.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3292-3294)tgC>tgT		latrophilin 1							149.0	141.0	143.0					19																	14266186		2203	4300	6503	SO:0001819	synonymous_variant	22859	1	121412	31				g.chr19:14266186G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3294C>T	chr19.hg19:g.14266186G>A		0					CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.C1098C	NM_001008701.2	NP_001008701.1	1	2	3	2.010022	O94910	LPHN1_HUMAN		19	3591	-			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	1	1	hg19	c.3294C>T	CCDS32928.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	1		18	3	2	1		1	1	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_014921			153	151		683	668	0		1	1		1	0	159	0		1	9.964394e-01	0	21	0	29	0	153	683
LPHN1	22859	broad.mit.edu	37	19	14267880	14267880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	946					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612																																						ENST00000340736.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2836-2838)gtG>gtA		latrophilin 1							52.0	51.0	51.0					19																	14267880		2203	4300	6503	SO:0001819	synonymous_variant	22859	0	0					g.chr19:14267880C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2838G>A	chr19.hg19:g.14267880C>T		0					CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.V946V	NM_001008701.2	NP_001008701.1	1	2	3	2.010022	O94910	LPHN1_HUMAN		16	3135	-			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	1	1	hg19	c.2838G>A	CCDS32928.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_014921			44	42		182	180	1		1	1		0	0	41	0		1	9.998451e-01	0	19	0	39	0	44	182
LPHN1	22859	broad.mit.edu	37	19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	226	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612																																						ENST00000340736.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(676-678)aAc>aCc		latrophilin 1							143.0	101.0	115.0					19																	14273951		2203	4300	6503	SO:0001583	missense	22859	0	0					g.chr19:14273951T>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.677A>C	chr19.hg19:g.14273951T>G	ENSP00000340688:p.Asn226Thr	0					LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.N226T	NM_001008701.2	NP_001008701.1	1	2	3	2.010022	O94910	LPHN1_HUMAN		6	974	-			Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	1	1	hg19	c.677A>C	CCDS32928.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379385	0.82682	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.88586	-2.4;-2.4	4.95	4.95	0.65309	4.95	4.95	0.65309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.67700	2.07	0.54753	D	0.999988	P;D	0.55605	0.931;0.972	P;P	0.58266	0.747;0.836	D	0.92216	0.5780	10	0.56958	D	0.05	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	221;226	O94910-2;O94910	.;LPHN1_HUMAN	T	226;221	ENSP00000340688:N226T;ENSP00000355328:N221T	ENSP00000340688:N226T	N	-	2	0	0	LPHN1	14134951	14134951	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.969000	0.87988	1.846000	0.53633	0.533000	0.62120	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_014921			77	77		312	305	1		1	1		0	0	64	0		1	8.947719e-01	0	7	0	11	0	77	312
CD97	976	broad.mit.edu	37	19	14501839	14501839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	98	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			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						CGGGATATGAGCCTGTTTCTG	0.527																																						ENST00000242786.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				30						c.(292-294)gaG>gaA		CD97 molecule							171.0	138.0	149.0					19																	14501839		2203	4300	6503	SO:0001819	synonymous_variant	976	0	0					g.chr19:14501839G>A		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.294G>A	chr19.hg19:g.14501839G>A		0					CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E	p.E98E	NM_078481.3	NP_510966.1	1	2	3	2.010022	P48960	CD97_HUMAN		4	374	+			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	1	1	hg19	c.294G>A	CCDS32929.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	0	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-19.999970	1	0.170000	NM_078481			57	54		367	356	0		1	1		0	0	115	0		1	1	0	146	0	361	0	57	367
CD97	976	broad.mit.edu	37	19	14517707	14517707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CD97_ENST00000357355.3_Silent_p.T665T|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.T621T|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	714					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)			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						TCGTGACTACCGTCTGGAAGC	0.562											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5	1.000000	0.280000	4.400000e-01	3.200000e-01	0.370000	0.425904	0.370000	0.370000																										0				30						c.(2140-2142)acC>acT		CD97 molecule							201.0	217.0	212.0					19																	14517707		2203	4300	6503	SO:0001819	synonymous_variant	976	0	0					g.chr19:14517707C>T		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.2142C>T	chr19.hg19:g.14517707C>T		0		OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.T621T	p.T714T	NM_078481.3	NP_510966.1	1	2	3	2.010022	P48960	CD97_HUMAN		17	2222	+			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	1	1	hg19	c.2142C>T	CCDS32929.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	0	0	1		18	5	2	1		1	1	348		348	344	1	2.060000	-2.004706	0	0.170000	NM_078481			56	54		1739	1705	0		1	1		1	0	348	0		9.999979e-01	9.126081e-01	0	9	0	258	0	56	1739
CD97	976	broad.mit.edu	37	19	14517876	14517876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_ENST00000357355.3_Silent_p.A688A|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.A644A|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	737					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)			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						CTCGCAGGGCGCTGACCATCA	0.647																																						ENST00000242786.5	1.000000	0.640000	1	7.700000e-01	0.920000	0.898088	0.920000	1.000000																										0				30						c.(2209-2211)gcG>gcA		CD97 molecule							94.0	69.0	77.0					19																	14517876		2203	4300	6503	SO:0001819	synonymous_variant	976	1	121406	26				g.chr19:14517876G>A		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.2211G>A	chr19.hg19:g.14517876G>A		0					CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.A644A	p.A737A	NM_078481.3	NP_510966.1	1	2	3	2.010022	P48960	CD97_HUMAN		18	2291	+			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	1	1	hg19	c.2211G>A	CCDS32929.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_078481			34	34		412	407	0		1	1		0	0	78	0		1	1	0	59	0	339	0	34	412
PKN1	5585	broad.mit.edu	37	19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	122					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)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTCGGCCACCAACCTG	0.662																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999756	0.990000	1.000000																										0				31						c.(364-366)gCc>gTc		protein kinase N1							47.0	58.0	54.0					19																	14554324		2174	4292	6466	SO:0001583	missense	5585	0	0					g.chr19:14554324C>T	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.365C>T	chr19.hg19:g.14554324C>T	ENSP00000242783:p.Ala122Val	0					PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	p.A122V	NM_002741.3	NP_002732.3	1	2	3	2.010022	Q16512	PKN1_HUMAN		3	530	+			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	1	1	hg19	c.365C>T	CCDS42513.1	1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563159	0.45694	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.197201	0.34411	U	0.003983	T	0.42291	0.1196	N	0.22421	0.69	0.31609	N	0.651697	B;B	0.25609	0.13;0.079	B;B	0.16289	0.015;0.007	T	0.44726	-0.9309	10	0.22706	T	0.39	-0.0488	9.1301	0.36839	0.2185:0.7815:0.0:0.0	.	128;122	Q16512-2;Q16512	.;PKN1_HUMAN	V	122;128	ENSP00000242783:A122V;ENSP00000343325:A128V	ENSP00000242783:A122V	A	+	2	0	0	PKN1	14415324	14415324	0.765000	0.28485	1.000000	0.80357	0.933000	0.57130	1.622000	0.36997	1.794000	0.52575	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_002741, NM_213560			16	16		71	69	1		1	1		0	0	18	0		9.999544e-01	9.999999e-01	0	30	0	131	0	16	71
PKN1	5585	broad.mit.edu	37	19	14568859	14568859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	394	C2.				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)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCACTGTGCTTAAGCTGG	0.552																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1180-1182)gtG>gtA		protein kinase N1							147.0	143.0	144.0					19																	14568859		1984	4165	6149	SO:0001819	synonymous_variant	5585	0	0					g.chr19:14568859G>A	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.1182G>A	chr19.hg19:g.14568859G>A		0					CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.V400V	p.V394V	NM_002741.3	NP_002732.3	1	2	3	2.010022	Q16512	PKN1_HUMAN		8	1347	+			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	1	1	hg19	c.1182G>A	CCDS42513.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1		2	2	2	0		0	0	204		204	201	1	2.060000	-20.000000	1	0.170000	NM_002741, NM_213560			209	201		902	878	1		1	1		0	0	204	0		1	1	0	76	0	400	0	209	902
PKN1	5585	broad.mit.edu	37	19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	653	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)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACATTGTGGCCCGAGACGAG	0.587																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1957-1959)gCc>gTc		protein kinase N1							43.0	46.0	45.0					19																	14578761		1932	4127	6059	SO:0001583	missense	5585	0	0					g.chr19:14578761C>T	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.1958C>T	chr19.hg19:g.14578761C>T	ENSP00000242783:p.Ala653Val	0					PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	p.A653V	NM_002741.3	NP_002732.3	1	2	3	2.010022	Q16512	PKN1_HUMAN		15	2123	+			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	1	1	hg19	c.1958C>T	CCDS42513.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361481	0.82353	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.62	4.62	0.57501	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000007	T	0.61211	0.2329	N	0.11023	0.085	0.40078	D	0.976102	D;D	0.59767	0.982;0.986	P;D	0.64144	0.873;0.922	T	0.69818	-0.5042	10	0.72032	D	0.01	-7.1948	15.3299	0.74200	0.0:1.0:0.0:0.0	.	659;653	Q16512-2;Q16512	.;PKN1_HUMAN	V	653;659	ENSP00000242783:A653V;ENSP00000343325:A659V	ENSP00000242783:A653V	A	+	2	0	0	PKN1	14439761	14439761	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	3.566000	0.53805	2.555000	0.86185	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_002741, NM_213560			66	65		197	193	1		1	1		0	0	53	0		1	1	0	122	0	399	0	66	197
GIPC1	10755	broad.mit.edu	37	19	14593528	14593528	+	Silent	SNP	G	G	A	rs559255899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393028.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	87					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGAAGGCCTCGGCGATCTTGC	0.652																																					Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(259-261)gcC>gcT		GIPC PDZ domain containing family, member 1							49.0	39.0	42.0					19																	14593528		2203	4300	6503	SO:0001819	synonymous_variant	10755	5	121336	34				g.chr19:14593528G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.261C>T	chr19.hg19:g.14593528G>A		0					GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393029.3_Intron	p.A87A	NM_005716.3	NP_005707.1	1	2	3	2.010022	O14908	GIPC1_HUMAN		4	530	-			A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	1	1	hg19	c.261C>T	CCDS12310.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				30	30		116	116	1		1	1		0	0	26	0		1	1	0	93	0	180	0	30	116
APC2	10297	broad.mit.edu	37	19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	APC2_ENST00000238483.4_Missense_Mutation_p.A383T|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A657T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCCCGCAGCGCCCGTGACCA	0.652																																						ENST00000535453.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999765	0.990000	1.000000																										0				18						c.(1969-1971)Gcc>Acc		adenomatosis polyposis coli 2							22.0	20.0	21.0					19																	1465269		2183	4289	6472	SO:0001583	missense	10297	1	120524	28				g.chr19:1465269G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1969G>A	chr19.hg19:g.1465269G>A	ENSP00000442954:p.Ala657Thr	0					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|APC2_ENST00000238483.4_Missense_Mutation_p.A383T|CTB-25B13.12_ENST00000588225.1_RNA	p.A657T			1	2	3	2.010022	P02655	APOC2_HUMAN		14	3682	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	0	1	hg19	c.1969G>A	CCDS12068.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528135	0.27299	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65549	-0.16;0.83;-0.16	4.65	-2.29	0.06805	4.65	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.405928	0.26262	N	0.025385	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	P;P	0.43231	0.801;0.7	B;B	0.31016	0.123;0.058	T	0.48958	-0.8988	10	0.45353	T	0.12	-12.6912	20.324	0.98686	0.0:0.2256:0.7744:0.0	.	656;657	O95996-3;O95996	.;APC2_HUMAN	T	657;383;657	ENSP00000233607:A657T;ENSP00000238483:A383T;ENSP00000442954:A657T	ENSP00000233607:A657T	A	+	1	0	0	APC2	1416269	1416269	0.070000	0.21116	0.532000	0.27989	0.255000	0.26057	-0.266000	0.08631	-0.246000	0.09611	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_005883			22	22		120	119	1		1			0	0	17	0		9.999993e-01	0	0	0	0	0	0	22	120
APC2	10297	broad.mit.edu	37	19	1466480	1466480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	APC2_ENST00000238483.4_Silent_p.A786A|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.A1060A			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AACTGGCGGCGCAAGAGGGGC	0.687																																						ENST00000535453.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999809	0.990000	1.000000																										0				18						c.(3178-3180)gcG>gcA		adenomatosis polyposis coli 2							8.0	11.0	10.0					19																	1466480		2017	4030	6047	SO:0001819	synonymous_variant	10297	5	119088	32				g.chr19:1466480G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3180G>A	chr19.hg19:g.1466480G>A		0					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.A1060A|APC2_ENST00000238483.4_Silent_p.A786A	p.A1060A			1	2	3	2.010022	P02655	APOC2_HUMAN		14	4893	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	1	1	hg19	c.3180G>A	CCDS12068.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_005883			20	19		101	100	0		1			0	0	17	0		9.999970e-01	0	0	0	0	0	0	20	101
APC2	10297	broad.mit.edu	37	19	1466897	1466897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	ENST00000535453.1	+	14	5310	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	APC2_ENST00000238483.4_Silent_p.P925P|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1199P			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCGAGCTGCCCGACAGCCCCG	0.711																																						ENST00000535453.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998704	0.990000	1.000000																										0				18						c.(3595-3597)ccC>ccT		adenomatosis polyposis coli 2							8.0	8.0	8.0					19																	1466897		2134	4239	6373	SO:0001819	synonymous_variant	10297	0	0					g.chr19:1466897C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3597C>T	chr19.hg19:g.1466897C>T		0					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1199P|APC2_ENST00000238483.4_Silent_p.P925P	p.P1199P			1	2	3	2.010022	P02655	APOC2_HUMAN		14	5310	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	0	1	hg19	c.3597C>T	CCDS12068.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-19.961080	1	0.170000	NM_005883			11	11		48	48	0		1			0	0	10	0		9.988767e-01	0	0	0	0	0	0	11	48
DNAJB1	3337	broad.mit.edu	37	19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	309					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCCACGTTTCTCGGGTGTTT	0.507																																						ENST00000254322.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(925-927)gaG>gaT		DnaJ (Hsp40) homolog, subfamily B, member 1							85.0	83.0	84.0					19																	14626848		2203	4300	6503	SO:0001583	missense	3337	0	0					g.chr19:14626848C>A	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.927G>T	chr19.hg19:g.14626848C>A	ENSP00000254322:p.Glu309Asp	0					DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	p.E309D	NM_006145.1	NP_006136.1	1	2	3	2.010022	P25685	DNJB1_HUMAN		3	997	-			B4DX52	Missense_Mutation	SNP	ENST00000254322.2	1	1	hg19	c.927G>T	CCDS12312.1	1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523743	0.27299	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.42131	0.98;0.98	4.84	2.64	0.31445	4.84	2.64	0.31445	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.304487	0.35067	N	0.003465	T	0.21267	0.0512	N	0.12611	0.24	0.38586	D	0.950306	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	10	0.20046	T	0.44	.	8.377	0.32449	0.1664:0.5109:0.3227:0.0	.	309	P25685	DNJB1_HUMAN	D	309;209	ENSP00000254322:E309D;ENSP00000444212:E209D	ENSP00000254322:E309D	E	-	3	2	2	DNAJB1	14487848	14487848	0.842000	0.29525	0.974000	0.42286	0.969000	0.65631	-0.088000	0.11198	0.441000	0.26529	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	0	0	0		16	29	2	1		1	1	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_006145			95	91		404	390	1		1	1		1	0	110	0		1	1	0	369	0	687	0	95	404
TECR	9524	broad.mit.edu	37	19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000215567.5	+	13	997	c.860G>A	c.(859-861)cGc>cAc	p.R287H	TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000600083.1_Missense_Mutation_p.R132H	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	287					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662																																						ENST00000215567.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999708	0.990000	1.000000																										0				3						c.(859-861)cGc>cAc		trans-2,3-enoyl-CoA reductase							15.0	15.0	15.0					19																	14676616		2192	4285	6477	SO:0001583	missense	9524	0	0					g.chr19:14676616G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.860G>A	chr19.hg19:g.14676616G>A	ENSP00000215567:p.Arg287His	0					TECR_ENST00000600083.1_Missense_Mutation_p.R132H|TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H	p.R287H	NM_138501.5	NP_612510.1	1	2	3	2.010022	Q9NZ01	TECR_HUMAN		13	997	+			B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	0	1	hg19	c.860G>A	CCDS12313.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180606	0.57800	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.30981	1.51;1.51	4.67	4.67	0.58626	4.67	4.67	0.58626	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.82323	2.585	0.80722	D	1	B;B;B	0.27140	0.058;0.169;0.058	B;B;B	0.19946	0.027;0.027;0.027	T	0.43877	-0.9364	10	0.62326	D	0.03	-19.4336	15.0436	0.71811	0.0:0.0:1.0:0.0	.	287;302;287	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	287;302	ENSP00000215567:R287H;ENSP00000397206:R302H	ENSP00000215567:R287H	R	+	2	0	0	TECR	14537616	14537616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.225000	0.78051	2.158000	0.67659	0.289000	0.19496	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	1	0	0		2	2	2	0		0	0	19		19	24	1	2.060000	-20.000000	1	0.170000	NM_138501			16	15		73	71	0		1	1		0	0	19	0		9.999495e-01	1	0	65	0	191	0	16	73
APC2	10297	broad.mit.edu	37	19	1467872	1467872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	APC2_ENST00000238483.4_Silent_p.T1250T|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCGCGCCCACGCCAACCCACC	0.721																																						ENST00000535453.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				18						c.(4570-4572)acG>acA		adenomatosis polyposis coli 2							5.0	7.0	7.0					19																	1467872		1924	3898	5822	SO:0001819	synonymous_variant	10297	0	0					g.chr19:1467872G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4572G>A	chr19.hg19:g.1467872G>A		0					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T|APC2_ENST00000238483.4_Silent_p.T1250T	p.T1524T			1	2	3	2.010022	P02655	APOC2_HUMAN		14	6285	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	1	1	hg19	c.4572G>A	CCDS12068.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000	NM_005883			20	20		81	81	0		1			0	0	12	0		9.999979e-01	0	0	0	0	0	0	20	81
APC2	10297	broad.mit.edu	37	19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACCCACCGGCGCACATCGGCC	0.736																																						ENST00000535453.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.992134	0.990000	1.000000																										0				18						c.(4585-4587)cGc>cAc		adenomatosis polyposis coli 2							6.0	8.0	7.0					19																	1467886		1972	3956	5928	SO:0001583	missense	10297	0	0					g.chr19:1467886G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4586G>A	chr19.hg19:g.1467886G>A	ENSP00000442954:p.Arg1529His	0					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H	p.R1529H			1	2	3	2.010022	P02655	APOC2_HUMAN		14	6299	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	0	1	hg19	c.4586G>A	CCDS12068.1	1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430216	0.43122	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92699	-3.09;-2.74;-3.09	3.32	0.576	0.17380	3.32	0.576	0.17380	.	2.002530	0.02410	N	0.081577	D	0.87977	0.6314	L	0.44542	1.39	0.19575	N	0.999969	B;B	0.19935	0.04;0.024	B;B	0.08055	0.003;0.001	T	0.73874	-0.3845	10	0.62326	D	0.03	-13.3497	4.1126	0.10065	0.5113:0.0:0.4887:0.0	.	1528;1529	O95996-3;O95996	.;APC2_HUMAN	H	1529;1255;1529	ENSP00000233607:R1529H;ENSP00000238483:R1255H;ENSP00000442954:R1529H	ENSP00000233607:R1529H	R	+	2	0	0	APC2	1418886	1418886	0.001000	0.12720	0.047000	0.18901	0.003000	0.03518	0.861000	0.27885	0.521000	0.28445	-0.436000	0.05848	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0		2	2	2	0		0	0	15		15	14	1	2.060000	-19.971550	1	0.170000	NM_005883			13	14		89	88	0		1			0	0	15	0		9.996541e-01	0	0	0	0	0	0	13	89
TECR	9524	broad.mit.edu	37	19	14676647	14676647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	ENST00000215567.5	+	13	1028	c.891G>A	c.(889-891)ccG>ccA	p.P297P	TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000600083.1_Silent_p.P142P	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	297					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGGACTACCCGCCCCTGCGCA	0.657																																						ENST00000215567.5	1.000000	0.450000	1	6.800000e-01	0.990000	0.878534	0.990000	1.000000																										0				3						c.(889-891)ccG>ccA		trans-2,3-enoyl-CoA reductase							12.0	12.0	12.0					19																	14676647		2191	4258	6449	SO:0001819	synonymous_variant	9524	0	0					g.chr19:14676647G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.891G>A	chr19.hg19:g.14676647G>A		0					TECR_ENST00000600083.1_Silent_p.P142P|TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P	p.P297P	NM_138501.5	NP_612510.1	1	2	3	2.010022	Q9NZ01	TECR_HUMAN		13	1028	+			B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	0	1	hg19	c.891G>A	CCDS12313.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	0	0	0		2	2	2	0		0	0	20		20	31	1	2.060000	-12.568110	1	0.170000	NM_138501			7	7		81	76	0		1	1		0	0	20	0		9.778594e-01	9.999218e-01	0	26	0	242	0	7	81
EMR3	84658	broad.mit.edu	37	19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	522					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)			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						AAGATAAACAATACTAAATTC	0.403																																						ENST00000253673.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1564-1566)Ttg>Gtg		egf-like module containing, mucin-like, hormone receptor-like 3							97.0	91.0	93.0					19																	14743812		2203	4300	6503	SO:0001583	missense	84658	0	0					g.chr19:14743812A>C	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.1564T>G	chr19.hg19:g.14743812A>C	ENSP00000253673:p.Leu522Val	0					EMR3_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V	p.L522V	NM_032571.3	NP_115960.2	1	2	3	2.010022	Q9BY15	EMR3_HUMAN		13	1664	-				Missense_Mutation	SNP	ENST00000253673.5	1	1	hg19	c.1564T>G	CCDS12315.1	1	.	.	.	.	.	.	.	.	.	.	A	9.250	1.040406	0.19669	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.53857	0.6;0.6;0.6	4.08	1.96	0.26148	4.08	1.96	0.26148	GPCR, family 2-like (1);	.	.	.	.	T	0.36524	0.0970	L	0.31845	0.965	0.09310	N	1	B;P;B	0.44946	0.382;0.846;0.372	B;B;B	0.40782	0.133;0.328;0.34	T	0.30679	-0.9970	9	0.66056	D	0.02	.	2.1925	0.03903	0.5755:0.0:0.2003:0.2242	.	396;470;522	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	396;522;470	ENSP00000396208:L396V;ENSP00000253673:L522V;ENSP00000340758:L470V	ENSP00000253673:L522V	L	-	1	2	2	EMR3	14604812	14604812	0.119000	0.22226	0.020000	0.16555	0.005000	0.04900	0.344000	0.19962	0.692000	0.31613	0.533000	0.62120	TTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_032571			36	36		144	139	1		1			0	0	30	0		1	0	0	0	0	0	0	36	144
PCSK4	54760	broad.mit.edu	37	19	1483417	1483417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGAGGCCGGCGCAGGCCGATA	0.687																																						ENST00000300954.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1435-1437)tgC>tgT		proprotein convertase subtilisin/kexin type 4							24.0	28.0	26.0					19																	1483417		2174	4237	6411	SO:0001819	synonymous_variant	54760	0	0					g.chr19:1483417G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1437C>T	chr19.hg19:g.1483417G>A		0					CTB-25B13.6_ENST00000585643.1_RNA	p.C479C	NM_017573.3	NP_060043.2	1	2	3	2.010022				12	1498	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		Silent	SNP	ENST00000300954.5	1	1	hg19	c.1437C>T	CCDS12069.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	0	0	1		2	2	2	1		1	0	49		49	46	1	2.060000	-2.941338	1	0.170000	NM_017573			81	80		272	261	0		1	1		1	0	49	0		1	3.273523e-01	0	5	0	0	0	81	272
ZNF333	84449	broad.mit.edu	37	19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	65	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						AAAGGCAACAGAACGAGGGAT	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				21						c.(193-195)Gaa>Taa		zinc finger protein 333							119.0	96.0	104.0					19																	14806443		2203	4300	6503	SO:0001587	stop_gained	84449	0	0					g.chr19:14806443G>T		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.193G>T	chr19.hg19:g.14806443G>T	ENSP00000292530:p.Glu65*	0					ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*	p.E65*	NM_032433.2	NP_115809.1	1	2	3	2.010022	Q96JL9	ZN333_HUMAN		4	284	+			Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	0	1	hg19	c.193G>T	CCDS12316.1	1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891555	0.52014	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	1.41	0.22369	2.47	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2459	0.15496	0.1732:0.0:0.8268:0.0	.	.	.	.	X	65	.	ENSP00000292530:E65X	E	+	1	0	0	ZNF333	14667443	14667443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.527000	0.22987	0.394000	0.25230	-0.350000	0.07774	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_032433			33	33		167	164	1		1	0		0	0	42	0		1	7.352615e-01	0	0	0	15	0	33	167
PCSK4	54760	broad.mit.edu	37	19	1486949	1486949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	ENST00000300954.5	-	8	1032	c.971G>T	c.(970-972)aGc>aTc	p.S324I	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTGGGTGGTGCTGCCCACGGA	0.672																																						ENST00000300954.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(970-972)aGc>aTc		proprotein convertase subtilisin/kexin type 4							84.0	70.0	75.0					19																	1486949		2203	4300	6503	SO:0001583	missense	54760	0	0					g.chr19:1486949C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.971G>T	chr19.hg19:g.1486949C>A	ENSP00000300954:p.Ser324Ile	0					CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	p.S324I	NM_017573.3	NP_060043.2	1	2	3	2.010022				8	1032	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		Missense_Mutation	SNP	ENST00000300954.5	0	1	hg19	c.971G>T	CCDS12069.2	1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522650	0.64747	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.83419	-1.72	2.71	2.71	0.32032	2.71	2.71	0.32032	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	U	0.000013	D	0.93539	0.7938	H	0.97315	3.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94710	0.7891	10	0.87932	D	0	.	12.2145	0.54398	0.0:1.0:0.0:0.0	.	324;136	Q6UW60;B3KQ28	PCSK4_HUMAN;.	I	324;136	ENSP00000300954:S324I	ENSP00000300954:S324I	S	-	2	0	0	PCSK4	1437949	1437949	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	4.703000	0.61824	1.221000	0.43506	0.313000	0.20887	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	0	0	0		23	2	2	1		1	1	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_017573			88	86		365	364	0		1	1		1	0	61	0		1	6.615709e-01	0	4	0	7	0	88	365
EMR2	30817	broad.mit.edu	37	19	14863237	14863237	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000353005.1_Silent_p.I422I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	564					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)			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						TGGTGTTCTGGATGGCTTTAC	0.572																																						ENST00000315576.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				48						c.(1690-1692)atC>atA		egf-like module containing, mucin-like, hormone receptor-like 2							128.0	111.0	117.0					19																	14863237		2203	4300	6503	SO:0001819	synonymous_variant	30817	0	0					g.chr19:14863237G>T	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.1692C>A	chr19.hg19:g.14863237G>T		0					EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000596991.2_Silent_p.I553I	p.I564I	NM_013447.3	NP_038475.2	1	2	3	2.010022	Q9UHX3	EMR2_HUMAN		15	2143	-			B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	1	1	hg19	c.1692C>A	CCDS32935.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-19.997870	1	0.170000				51	50		324	311	1		1	0		0	0	68	0		1	9.847476e-01	0	0	0	44	0	51	324
PCSK4	54760	broad.mit.edu	37	19	1487861	1487861	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_Splice_Site	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCAGGGGGTCCTGGGGGCAGG	0.692																																						ENST00000300954.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.e5-1		proprotein convertase subtilisin/kexin type 4							11.0	14.0	13.0					19																	1487861		2149	4260	6409	SO:0001630	splice_region_variant	54760	0	0					g.chr19:1487861C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.517-1G>T	chr19.hg19:g.1487861C>A		0					CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_Splice_Site		NM_017573.3	NP_060043.2	1	2	3	2.010022				5	578	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		Splice_Site	SNP	ENST00000300954.5	1	1	hg19		CCDS12069.2	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797892	0.50208	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	.	.	.	2.09	2.09	0.27110	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7328	0.51748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PCSK4	1438861	1438861	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.471000	0.80985	1.501000	0.48654	0.491000	0.48974	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	1	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-20.000000	1	0.170000	NM_017573	Intron		41	39		142	142	0		1	1		0	0	27	0		1	3.193221e-01	0	4	0	1	0	41	142
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTTCTCGATGCCATCGTCCAG	0.677																																						ENST00000300954.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(478-480)gGc>gTc		proprotein convertase subtilisin/kexin type 4							90.0	89.0	89.0					19																	1488000		2203	4300	6503	SO:0001583	missense	54760	0	0					g.chr19:1488000C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.479G>T	chr19.hg19:g.1488000C>A	ENSP00000300954:p.Gly160Val	0					CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	p.G160V	NM_017573.3	NP_060043.2	1	2	3	2.010022				4	540	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		Missense_Mutation	SNP	ENST00000300954.5	1	1	hg19	c.479G>T	CCDS12069.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.198276|3.198276	0.58126|0.58126	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.97710	.|-4.5	2.67|2.67	2.67|2.67	0.31697|0.31697	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.000000	.|0.50627	.|D	.|0.000109	D|D	0.98998|0.98998	0.9658|0.9658	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	P|D	0.43750|0.89917	0.816|1.0	B|D	0.26864|0.97110	0.074|1.0	D|D	0.98703|0.98703	1.0701|1.0701	8|10	0.13853|0.87932	T|D	0.58|0	.|.	11.0356|11.0356	0.47799|0.47799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|160	B3KQ28|Q6UW60	.|PCSK4_HUMAN	S|V	2|160	.|ENSP00000300954:G160V	ENSP00000402772:A2S|ENSP00000300954:G160V	A|G	-|-	1|2	0|0	0|0	PCSK4|PCSK4	1439000|1439000	1439000|1439000	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.471000|7.471000	0.80985|0.80985	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GCA|GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	1	0	1		2	2	2	0		0	0	146		146	143	1	2.060000	-20.000000	1	0.170000	NM_017573			155	152		671	666	1		1	1		0	0	146	0		1	8.011385e-01	0	4	0	11	0	155	671
EMR2	30817	broad.mit.edu	37	19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353005.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; 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)			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						CTTTTACAGAGCCTTGGGTTC	0.587																																						ENST00000315576.3	1.000000	0.270000	5.600000e-01	3.400000e-01	0.430000	0.478957	0.430000	0.420000																										0				48						c.(385-387)Ctc>Atc		egf-like module containing, mucin-like, hormone receptor-like 2							84.0	77.0	79.0					19																	14877892		2203	4298	6501	SO:0001583	missense	30817	0	0					g.chr19:14877892G>T	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.385C>A	chr19.hg19:g.14877892G>T	ENSP00000319883:p.Leu129Ile	0					EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I	p.L129I	NM_013447.3	NP_038475.2	1	2	3	2.010022	Q9UHX3	EMR2_HUMAN		6	836	-			B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	1	1	hg19	c.385C>A	CCDS32935.1	0	.	.	.	.	.	.	.	.	.	.	G	2.433	-0.330439	0.05314	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.72	-7.44	0.01379	3.72	-7.44	0.01379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78194	0.4245	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.15473	0.004;0.008;0.013;0.007	B;B;B;B	0.17098	0.005;0.007;0.017;0.006	T	0.64980	-0.6279	9	0.27785	T	0.31	.	5.1675	0.15094	0.0949:0.4357:0.3466:0.1228	.	129;129;129;129	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	129	ENSP00000319883:L129I;ENSP00000376694:L129I;ENSP00000263380:L129I;ENSP00000376692:L129I;ENSP00000376689:L129I	ENSP00000319883:L129I	L	-	1	0	0	EMR2	14738892	14738892	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.110000	0.00150	-2.490000	0.00517	-0.429000	0.05907	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2	0	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-18.699550	1	0.170000				21	18		575	552	0		1	0		0	0	144	0		9.999961e-01	2.338506e-01	0	0	0	25	0	21	575
SLC1A6	6511	broad.mit.edu	37	19	15063766	15063766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000221742.3	-	8	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_ENST00000600144.1_Silent_p.T413T|SLC1A6_ENST00000430939.2_Silent_p.T427T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CAATGATGAGCGTGATGTCTT	0.607																																						ENST00000221742.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1471-1473)acG>acA		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6							199.0	150.0	167.0					19																	15063766		2203	4300	6503	SO:0001819	synonymous_variant	6511	0	0					g.chr19:15063766C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1473G>A	chr19.hg19:g.15063766C>T		0					SLC1A6_ENST00000430939.2_Silent_p.T427T|SLC1A6_ENST00000600144.1_Silent_p.T413T	p.T491T	NM_005071.1	NP_005062.1	1	2	3	2.010022	P48664	EAA4_HUMAN		8	1480	-			Q8N753	Silent	SNP	ENST00000221742.3	1	1	hg19	c.1473G>A	CCDS12321.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	1	0	0		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_005071			93	93		504	500	1		1			0	0	123	0		1	0	0	0	0	0	0	93	504
SLC1A6	6511	broad.mit.edu	37	19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000221742.3	-	7	1197	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T333I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	397					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGCGGAAGGTGATGGGCAG	0.692																																						ENST00000221742.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1189-1191)aCc>aTc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6							50.0	47.0	48.0					19																	15065121		2203	4299	6502	SO:0001583	missense	6511	0	0					g.chr19:15065121G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1190C>T	chr19.hg19:g.15065121G>A	ENSP00000221742:p.Thr397Ile	0					SLC1A6_ENST00000430939.2_Missense_Mutation_p.T333I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I	p.T397I	NM_005071.1	NP_005062.1	1	2	3	2.010022	P48664	EAA4_HUMAN		7	1197	-			Q8N753	Missense_Mutation	SNP	ENST00000221742.3	1	1	hg19	c.1190C>T	CCDS12321.1	1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.714401	0.89112	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.61742	0.37;0.08	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.161650	0.53938	D	0.000041	T	0.77968	0.4210	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82028	-0.0660	10	0.87932	D	0	-31.7608	15.1319	0.72530	0.0:0.0:1.0:0.0	.	333;397	E7EV13;P48664	.;EAA4_HUMAN	I	333;397	ENSP00000409386:T333I;ENSP00000221742:T397I	ENSP00000221742:T397I	T	-	2	0	0	SLC1A6	14926121	14926121	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.636000	0.83301	2.518000	0.84900	0.546000	0.68486	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_005071			84	82		357	352	1		1			0	0	53	0		1	0	0	0	0	0	0	84	357
SYDE1	85360	broad.mit.edu	37	19	15221544	15221544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15221544C>T	ENST00000342784.2	+	4	1319	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R87W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	430	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAGGGCTGCGGGTGAGCAC	0.687																																						ENST00000342784.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999050	0.990000	1.000000																										0				17						c.(1288-1290)Cgg>Tgg		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							8.0	11.0	10.0					19																	15221544		2176	4239	6415	SO:0001583	missense	85360	1	115356	24				g.chr19:15221544C>T	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.1288C>T	chr19.hg19:g.15221544C>T	ENSP00000341489:p.Arg430Trp	0					SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R87W	p.R430W	NM_033025.4	NP_149014.3	1	2	3	2.010022	Q6ZW31	SYDE1_HUMAN		4	1319	+			Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	0	1	hg19	c.1288C>T	CCDS12324.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569073	0.45798	.	.	ENSG00000105137	ENST00000342784	T	0.20598	2.06	4.94	1.41	0.22369	4.94	1.41	0.22369	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098867	0.42821	D	0.000654	T	0.42108	0.1188	M	0.71871	2.18	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.29366	-1.0014	10	0.87932	D	0	.	11.9895	0.53168	0.4511:0.5489:0.0:0.0	.	363;363;430	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	430	ENSP00000341489:R430W	ENSP00000341489:R430W	R	+	1	2	2	SYDE1	15082544	15082544	0.992000	0.36948	0.990000	0.47175	0.087000	0.18053	1.567000	0.36407	0.100000	0.17581	0.471000	0.43371	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.272090	1	0.170000	NM_033025			9	9		28	28	1		1	1		0	0	12	0		9.961834e-01	9.999846e-01	0	3	0	89	0	9	28
ILVBL	10994	broad.mit.edu	37	19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	611						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637																																						ENST00000263383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1831-1833)gGc>gTc		ilvB (bacterial acetolactate synthase)-like							132.0	99.0	110.0					19																	15226130		2203	4300	6503	SO:0001583	missense	10994	0	0					g.chr19:15226130C>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1832G>T	chr19.hg19:g.15226130C>A	ENSP00000263383:p.Gly611Val	0					ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	p.G611V	NM_006844.3	NP_006835.2	1	2	3	2.010022	A1L0T0	ILVBL_HUMAN		16	1971	-			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	1	1	hg19	c.1832G>T	CCDS12325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940381|3.940381	0.73557|0.73557	.|.	.|.	ENSG00000105135|ENSG00000105135	ENST00000269733|ENST00000263383	.|T	.|0.48522	.|0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77545	.|0.4146	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70227	.|0.968	.|D	.|0.84377	.|0.0547	.|10	.|0.66056	.|D	.|0.02	.|-28.1197	14.6173|14.6173	0.68558|0.68558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611	.|A1L0T0	.|ILVBL_HUMAN	.|V	-1|611	.|ENSP00000263383:G611V	.|ENSP00000263383:G611V	.|G	-|-	.|2	.|0	.|0	ILVBL|ILVBL	15087130|15087130	15087130|15087130	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.611000|0.611000	0.37282|0.37282	7.211000|7.211000	0.77933|0.77933	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	.|GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_006844			84	82		371	364	1		1	1		0	0	82	0		1	1	0	80	0	165	0	84	371
ILVBL	10994	broad.mit.edu	37	19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	237						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597																																						ENST00000263383.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(709-711)Gtc>Atc		ilvB (bacterial acetolactate synthase)-like							63.0	59.0	61.0					19																	15233511		2203	4300	6503	SO:0001583	missense	10994	0	0					g.chr19:15233511C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.709G>A	chr19.hg19:g.15233511C>T	ENSP00000263383:p.Val237Ile	0					ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	p.V237I	NM_006844.3	NP_006835.2	1	2	3	2.010022	A1L0T0	ILVBL_HUMAN		6	848	-			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	1	1	hg19	c.709G>A	CCDS12325.1	1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766195	0.15983	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.30448	1.53	4.36	1.06	0.20224	4.36	1.06	0.20224	.	0.423880	0.25552	N	0.029899	T	0.20577	0.0495	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.33940	T	0.23	-13.666	6.6627	0.23022	0.0:0.6123:0.0:0.3877	.	237	A1L0T0	ILVBL_HUMAN	I	237	ENSP00000263383:V237I	ENSP00000263383:V237I	V	-	1	0	0	ILVBL	15094511	15094511	0.122000	0.22280	0.001000	0.08648	0.082000	0.17680	0.614000	0.24314	0.141000	0.18875	-0.291000	0.09656	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_006844			50	48		215	208	1		1	1		0	0	61	0		1	1	0	33	0	96	0	50	215
NOTCH3	4854	broad.mit.edu	37	19	15271773	15271773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	ENST00000263388.2	-	33	6741	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2222					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGCCGCCGGGTACTCCT	0.711																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998959	0.990000	1.000000																										0				93						c.(6664-6666)ccG>ccA		notch 3							5.0	7.0	6.0					19																	15271773		2078	4125	6203	SO:0001819	synonymous_variant	4854	5	119298	29				g.chr19:15271773C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6666G>A	chr19.hg19:g.15271773C>T		0						p.P2222P	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	33	6741	-			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	0	1	hg19	c.6666G>A	CCDS12326.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-19.998730	1	0.170000	NM_000435			12	12		54	53	0		1	0		0	0	8	0		9.993620e-01	1	0	0	0	251	0	12	54
NOTCH3	4854	broad.mit.edu	37	19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCATCAGCACGGGCATAACG	0.642																																						ENST00000263388.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.983392	0.990000	1.000000																										0				93						c.(5551-5553)cGt>cAt		notch 3							59.0	46.0	50.0					19																	15276713		2203	4300	6503	SO:0001583	missense	4854	0	0					g.chr19:15276713C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5552G>A	chr19.hg19:g.15276713C>T	ENSP00000263388:p.Arg1851His	0						p.R1851H	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	30	5627	-			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	1	1	hg19	c.5552G>A	CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.098280	0.94197	.	.	ENSG00000074181	ENST00000263388	T	0.62639	0.01	5.36	5.36	0.76844	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.66317	0.2777	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.87932	D	0	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1851	Q9UM47	NOTC3_HUMAN	H	1851	ENSP00000263388:R1851H	ENSP00000263388:R1851H	R	-	2	0	0	NOTCH3	15137713	15137713	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.557000	0.82243	2.790000	0.95986	0.655000	0.94253	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_000435			19	19		162	159	0		1	0		0	0	34	0		9.999921e-01	9.999999e-01	0	1	0	265	0	19	162
NOTCH3	4854	broad.mit.edu	37	19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1576					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGATCACCTCGGGGGCCAGC	0.637																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(4726-4728)Gag>Aag		notch 3							18.0	25.0	23.0					19																	15284889		2171	4259	6430	SO:0001583	missense	4854	0	0					g.chr19:15284889C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4726G>A	chr19.hg19:g.15284889C>T	ENSP00000263388:p.Glu1576Lys	0						p.E1576K	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	25	4801	-			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	1	1	hg19	c.4726G>A	CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192522	0.58017	.	.	ENSG00000074181	ENST00000263388	T	0.33654	1.4	4.68	4.68	0.58851	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.35595	0.0937	L	0.53249	1.67	0.51012	D	0.999904	P	0.42039	0.769	B	0.40199	0.322	T	0.12967	-1.0527	9	0.21540	T	0.41	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	1576	Q9UM47	NOTC3_HUMAN	K	1576	ENSP00000263388:E1576K	ENSP00000263388:E1576K	E	-	1	0	0	NOTCH3	15145889	15145889	0.999000	0.42202	0.909000	0.35828	0.350000	0.29205	5.378000	0.66190	2.156000	0.67533	0.491000	0.48974	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-3.553527	1	0.170000	NM_000435			54	54		204	200	1		1	1		0	0	40	0		1	1	0	2	0	179	0	54	204
NOTCH3	4854	broad.mit.edu	37	19	15291787	15291787	+	Silent	SNP	C	C	T	rs545858293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	993	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACTGCGGGCCCGTGAAGCTCT	0.682																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997678	0.990000	1.000000																										0				93						c.(2977-2979)acG>acA		notch 3							10.0	11.0	11.0					19																	15291787		2183	4277	6460	SO:0001819	synonymous_variant	4854	0	0					g.chr19:15291787C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2979G>A	chr19.hg19:g.15291787C>T		0						p.T993T	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	18	3054	-			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	0	1	hg19	c.2979G>A	CCDS12326.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.141450	1	0.170000	NM_000435			10	9		46	44	1		1	1		0	0	10	0		9.970187e-01	9.999522e-01	0	14	0	90	0	10	46
NOTCH3	4854	broad.mit.edu	37	19	15295262	15295262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCGTGGGCCTGGGGGTAGG	0.622																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				93	GRCh37	CS063353	NOTCH3	S		c.e16-1		notch 3							49.0	45.0	46.0					19																	15295262		2203	4300	6503	SO:0001630	splice_region_variant	4854	0	0					g.chr19:15295262C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2411-1G>T	chr19.hg19:g.15295262C>A		0							NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	16	2486	-			Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	1	1	hg19		CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578469	0.28180	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0482	0.47872	0.0:0.9138:0.0:0.0862	.	.	.	.	.	-1	.	.	.	-	.	.	.	NOTCH3	15156262	15156262	1.000000	0.71417	0.749000	0.31150	0.125000	0.20455	6.577000	0.74027	2.420000	0.82092	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_000435	Intron		35	35		206	202	1		1			0	0	47	0		1	0	0	0	0	0	0	35	206
NOTCH3	4854	broad.mit.edu	37	19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A	rs370975434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	750	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCATCGCTGCTGCATGTCCC	0.662																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2248-2250)aGc>aTc		notch 3							54.0	36.0	42.0					19																	15296115		2201	4297	6498	SO:0001583	missense	4854	0	0					g.chr19:15296115C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2249G>T	chr19.hg19:g.15296115C>A	ENSP00000263388:p.Ser750Ile	0						p.S750I	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	14	2324	-			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	1	1	hg19	c.2249G>T	CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509253	0.04231	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.04	0.389	0.16269	5.04	0.389	0.16269	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.518457	0.14525	N	0.314219	T	0.28499	0.0705	N	0.10707	0.03	0.24311	N	0.995084	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10314	-1.0635	10	0.31617	T	0.26	.	1.9816	0.03427	0.1487:0.1388:0.4477:0.2648	.	753;750	Q59FL3;Q9UM47	.;NOTC3_HUMAN	I	750;752	ENSP00000263388:S750I	ENSP00000263388:S750I	S	-	2	0	0	NOTCH3	15157115	15157115	0.125000	0.22332	0.922000	0.36590	0.109000	0.19521	0.849000	0.27723	-0.056000	0.13221	-0.356000	0.07607	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_000435			58	56		213	208	1		1	1		0	0	26	0		1	1	0	16	0	142	0	58	213
NOTCH3	4854	broad.mit.edu	37	19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A	rs375173938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	721	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCAGCCAGGCTCACACACAC	0.692																																						ENST00000263388.2	1.000000	0.770000	1	9.900000e-01	0.990000	0.981589	0.990000	1.000000																										0				93						c.(2161-2163)gaG>gaT		notch 3							18.0	15.0	16.0					19																	15296201		2178	4252	6430	SO:0001583	missense	4854	0	0					g.chr19:15296201C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2163G>T	chr19.hg19:g.15296201C>A	ENSP00000263388:p.Glu721Asp	0						p.E721D	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	14	2238	-			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	0	1	hg19	c.2163G>T	CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571512	0.13623	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.07	1.76	0.24704	5.07	1.76	0.24704	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.256337	0.20577	N	0.089609	T	0.35158	0.0922	L	0.28504	0.86	0.43203	D	0.995058	B;B	0.10296	0.003;0.001	B;B	0.19666	0.016;0.026	T	0.08722	-1.0708	10	0.07175	T	0.84	.	4.3809	0.11293	0.1624:0.59:0.0:0.2476	.	724;721	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	721;723	ENSP00000263388:E721D	ENSP00000263388:E721D	E	-	3	2	2	NOTCH3	15157201	15157201	0.087000	0.21565	1.000000	0.80357	0.986000	0.74619	-0.638000	0.05452	0.543000	0.28864	0.650000	0.86243	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_000435			17	17		144	142	1		1	1		0	0	25	0		9.999713e-01	9.999842e-01	0	10	0	160	0	17	144
NOTCH3	4854	broad.mit.edu	37	19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E434K(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GACAGACACTCGTTGACATCG	0.647																																						ENST00000263388.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E434K(1)	upper_aerodigestive_tract(1)	93						c.(1300-1302)Gag>Aag		notch 3							51.0	42.0	45.0					19																	15299878		2203	4300	6503	SO:0001583	missense	4854	0	0					g.chr19:15299878C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1300G>A	chr19.hg19:g.15299878C>T	ENSP00000263388:p.Glu434Lys	0						p.E434K	NM_000435.2	NP_000426.2	1	2	3	2.010022	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	8	1375	-			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	1	1	hg19	c.1300G>A	CCDS12326.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.300635	0.95601	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98849	-5.18	4.77	4.77	0.60923	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99149	0.9706	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99541	1.0963	9	0.87932	D	0	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	437;434	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	434;436	ENSP00000263388:E434K	ENSP00000263388:E434K	E	-	1	0	0	NOTCH3	15160878	15160878	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.934000	0.70138	2.202000	0.70862	0.561000	0.74099	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-5.519275	1	0.170000	NM_000435			79	77		223	217	1		1	0		0	0	47	0		1	1	0	0	0	246	0	79	223
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000602233.1_Silent_p.H104H|EPHX3_ENST00000435261.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667																																						ENST00000221730.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(310-312)caC>caT		epoxide hydrolase 3							66.0	69.0	68.0					19																	15342604		2203	4300	6503	SO:0001819	synonymous_variant	79852	0	0					g.chr19:15342604G>A	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.312C>T	chr19.hg19:g.15342604G>A		0					EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	p.H104H	NM_024794.2	NP_079070.1	1	2	3	2.010022	Q9H6B9	EPHX3_HUMAN		2	532	-			A3KMR3	Silent	SNP	ENST00000221730.3	1	1	hg19	c.312C>T	CCDS12327.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	1	0	0		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_024794			71	70		326	323	0		1	0		0	0	77	0		1	2.239296e-01	0	0	0	4	0	71	326
EPHX3	79852	broad.mit.edu	37	19	15342655	15342655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	87						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGACATAGTGCAGACGCAGGC	0.667																																						ENST00000221730.3	1.000000	0.260000	6.500000e-01	3.500000e-01	0.470000	0.519747	0.470000	0.450000																										0				7						c.(259-261)ctG>ctA		epoxide hydrolase 3							51.0	53.0	52.0					19																	15342655		2203	4300	6503	SO:0001819	synonymous_variant	79852	0	0					g.chr19:15342655C>T	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.261G>A	chr19.hg19:g.15342655C>T		0					EPHX3_ENST00000435261.1_Silent_p.L87L|EPHX3_ENST00000602233.1_Silent_p.L87L	p.L87L	NM_024794.2	NP_079070.1	1	2	3	2.010022	Q9H6B9	EPHX3_HUMAN		2	481	-			A3KMR3	Silent	SNP	ENST00000221730.3	1	1	hg19	c.261G>A	CCDS12327.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	0	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-14.342910	1	0.170000	NM_024794			14	14		352	349	0		1	0		0	0	59	0		9.997532e-01	9.966631e-03	0	0	0	4	0	14	352
BRD4	23476	broad.mit.edu	37	19	15349989	15349989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1221	C-terminal (CTD) region.				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)			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)			CGAAGCTGTCGCTGGATGACT	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2	1.000000	0.500000	1	6.700000e-01	0.900000	0.859231	0.900000	1.000000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(3661-3663)agC>agT		bromodomain containing 4							36.0	37.0	36.0					19																	15349989		2203	4300	6503	SO:0001819	synonymous_variant	23476	0	0					g.chr19:15349989G>A	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.3663C>T	chr19.hg19:g.15349989G>A		0						p.S1221S	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	18	3884	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	1	1	hg19	c.3663C>T	CCDS12328.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-17.312130	1	0.170000	NM_058243			13	13		165	164	0		1	1		0	0	34	0		9.995814e-01	9.953781e-01	0	2	0	116	0	13	165
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A	rs200329089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000371835.4_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				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)			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)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2	1.000000	0.660000	1	8.400000e-01	0.990000	0.942495	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(2149-2151)tcC>tcT		bromodomain containing 4							76.0	66.0	70.0					19																	15364970		2203	4300	6503	SO:0001819	synonymous_variant	23476	11	121412	40				g.chr19:15364970G>A	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.2151C>T	chr19.hg19:g.15364970G>A		0					BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S717S	p.S717S	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	11	2372	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	1	1	hg19	c.2151C>T	CCDS12328.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-3.075762	1	0.170000	NM_058243			19	19		199	193	1		1	1		0	0	46	0		9.999905e-01	9.952694e-01	0	20	0	73	0	19	199
BRD4	23476	broad.mit.edu	37	19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	691					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)			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)			TTGGAGGAGCCGGCAATCACA	0.572			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(2071-2073)Ggc>Agc		bromodomain containing 4							83.0	72.0	75.0					19																	15365050		2203	4300	6503	SO:0001583	missense	23476	6	121412	39				g.chr19:15365050C>T	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.2071G>A	chr19.hg19:g.15365050C>T	ENSP00000263377:p.Gly691Ser	0					BRD4_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S	p.G691S	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	11	2292	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	1	1	hg19	c.2071G>A	CCDS12328.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.192950	0.94960	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40756	1.02;1.02;1.02	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.204699	0.33854	N	0.004493	T	0.54935	0.1889	L	0.52573	1.65	0.48288	D	0.999623	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.58210	0.835;0.752;0.835	T	0.52548	-0.8561	10	0.45353	T	0.12	-24.2424	17.9359	0.89012	0.0:1.0:0.0:0.0	.	691;691;691	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	691	ENSP00000263377:G691S;ENSP00000360901:G691S;ENSP00000353112:G691S	ENSP00000263377:G691S	G	-	1	0	0	BRD4	15226050	15226050	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	6.706000	0.74649	2.608000	0.88229	0.462000	0.41574	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-3.283925	1	0.170000	NM_058243			49	49		187	183	1		1	1		0	0	36	0		1	1	0	13	0	103	0	49	187
BRD4	23476	broad.mit.edu	37	19	15366169	15366169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S662S|BRD4_ENST00000371835.4_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	662	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				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)			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)			CACGCAGTGTGGACGGCTTCA	0.582			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2	1.000000	0.420000	8.600000e-01	5.300000e-01	0.660000	0.692500	0.660000	0.640000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(1984-1986)tcC>tcT		bromodomain containing 4							78.0	73.0	75.0					19																	15366169		2203	4300	6503	SO:0001819	synonymous_variant	23476	0	0					g.chr19:15366169G>A	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.1986C>T	chr19.hg19:g.15366169G>A		0					BRD4_ENST00000371835.4_Silent_p.S662S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S662S	p.S662S	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	10	2207	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	1	1	hg19	c.1986C>T	CCDS12328.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-19.998730	1	0.170000	NM_058243			21	20		364	357	0		1	1		0	0	61	0		9.999972e-01	9.717633e-01	0	2	0	101	0	21	364
BRD4	23476	broad.mit.edu	37	19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	327					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)			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)			AGGTTTCACAGGCCGGCTGCT	0.652			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2	1.000000	0.300000	6.200000e-01	3.800000e-01	0.480000	0.523777	0.480000	0.460000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(979-981)cCt>cTt		bromodomain containing 4							57.0	50.0	52.0					19																	15375447		2203	4300	6503	SO:0001583	missense	23476	0	0					g.chr19:15375447G>A	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.980C>T	chr19.hg19:g.15375447G>A	ENSP00000263377:p.Pro327Leu	0		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L	p.P327L	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	6	1201	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	1	1	hg19	c.980C>T	CCDS12328.1	0	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739736	0.89573	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.37058	1.22;2.93;2.88	5.45	5.45	0.79879	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.58090	0.2098	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.968;0.987	P;P;P	0.57425	0.82;0.8;0.755	T	0.64487	-0.6396	10	0.66056	D	0.02	-8.4213	13.0701	0.59057	0.0:0.0:0.839:0.161	.	327;327;327	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	327	ENSP00000263377:P327L;ENSP00000360901:P327L;ENSP00000353112:P327L	ENSP00000263377:P327L	P	-	2	0	0	BRD4	15236447	15236447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.556000	0.86216	0.563000	0.77884	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	0	0	1		2	2	2	0		0	0	70		70	65	1	2.060000	-19.740530	1	0.170000	NM_058243			21	21		514	494	0		1	1		0	0	70	0		9.999964e-01	9.002529e-01	0	3	0	97	0	21	514
BRD4	23476	broad.mit.edu	37	19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000360016.5_Missense_Mutation_p.R10I|BRD4_ENST00000371835.4_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	10					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)			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)			ATTTCTCAATCTCGTCCCAGG	0.552			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999665	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	23476	T	bromodomain containing 4				E	E	C15orf55		lethal midline carcinoma of young people		0				21						c.(28-30)aGa>aTa		bromodomain containing 4							95.0	96.0	96.0					19																	15383882		2203	4300	6503	SO:0001583	missense	23476	0	0					g.chr19:15383882C>A	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.29G>T	chr19.hg19:g.15383882C>A	ENSP00000263377:p.Arg10Ile	0					BRD4_ENST00000371835.4_Missense_Mutation_p.R10I|BRD4_ENST00000360016.5_Missense_Mutation_p.R10I	p.R10I	NM_058243.2	NP_490597.1	1	2	3	2.010022	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)	2	250	-			O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	1	1	hg19	c.29G>T	CCDS12328.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587167	0.86851	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.50813	0.73;2.65;2.48	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.61739	0.2371	L	0.58101	1.795	0.80722	D	1	D;P;D	0.59767	0.986;0.886;0.982	P;P;P	0.56278	0.731;0.475;0.795	T	0.64394	-0.6418	10	0.87932	D	0	-17.1711	18.2814	0.90099	0.0:1.0:0.0:0.0	.	10;10;10	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	10	ENSP00000263377:R10I;ENSP00000360901:R10I;ENSP00000353112:R10I	ENSP00000263377:R10I	R	-	2	0	0	BRD4	15244882	15244882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.627000	0.88993	0.561000	0.74099	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-19.999990	1	0.170000	NM_058243			76	74		614	600	1		1	1		0	0	103	0		1	9.932590e-01	0	9	0	54	0	76	614
AKAP8	10270	broad.mit.edu	37	19	15484043	15484043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	160					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(478-480)tcC>tcT		A kinase (PRKA) anchor protein 8							31.0	37.0	35.0					19																	15484043		2203	4300	6503	SO:0001819	synonymous_variant	10270	2	121410	33				g.chr19:15484043G>A	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.480C>T	chr19.hg19:g.15484043G>A		0						p.S160S	NM_005858.3	NP_005849.1	1	2	3	2.010022	O43823	AKAP8_HUMAN		5	540	-				Silent	SNP	ENST00000269701.2	1	1	hg19	c.480C>T	CCDS12329.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_005858			49	50		233	230	1		1	1		0	0	53	0		1	9.981324e-01	0	11	0	37	0	49	233
AKAP8L	26993	broad.mit.edu	37	19	15508540	15508540	+	Silent	SNP	C	C	T	rs79796304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595465.2_Silent_p.T367T|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	428						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAAAGTCAGCCGTCTGCTTAG	0.502													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		20980	0.0		0.0	False		,,,				2504	0.0					ENST00000397410.5	1.000000	0.600000	1	7.300000e-01	0.890000	0.877396	0.890000	1.000000																										0				11						c.(1282-1284)acG>acA		A kinase (PRKA) anchor protein 8-like		C		24,3876		0,24,1926	124.0	123.0	123.0		1284	-10.6	0.1	19	dbSNP_132	123	1,8275		0,1,4137	no	coding-synonymous	AKAP8L	NM_014371.2		0,25,6063	TT,TC,CC		0.0121,0.6154,0.2053		428/647	15508540	25,12151	1950	4138	6088	SO:0001819	synonymous_variant	26993	68	120886	51				g.chr19:15508540C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1284G>A	chr19.hg19:g.15508540C>T		0					AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.T367T	p.T428T	NM_014371.2	NP_055186.2	1	2	3	2.010022	Q9ULX6	AKP8L_HUMAN		10	1414	-			B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	1	1	hg19	c.1284G>A	CCDS46005.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.716733	1	0.170000	NM_014371			29	29		364	362	0		1	1		0	0	81	0		1	9.998834e-01	0	15	0	160	0	29	364
AKAP8L	26993	broad.mit.edu	37	19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	261						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCAGGTCCGCCTCATCTGC	0.652																																						ENST00000397410.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(781-783)Cgg>Tgg		A kinase (PRKA) anchor protein 8-like							124.0	138.0	133.0					19																	15511996		1984	4144	6128	SO:0001583	missense	26993	0	0					g.chr19:15511996G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.781C>T	chr19.hg19:g.15511996G>A	ENSP00000380557:p.Arg261Trp	0					AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W	p.R261W	NM_014371.2	NP_055186.2	1	2	3	2.010022	Q9ULX6	AKP8L_HUMAN		5	911	-			B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	1	1	hg19	c.781C>T	CCDS46005.1	1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000011243	ENST00000397410	T	0.49139	0.79	4.74	1.06	0.20224	4.74	1.06	0.20224	.	0.205156	0.38959	N	0.001507	T	0.49440	0.1557	L	0.34521	1.04	0.35636	D	0.81061	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.70935	0.898;0.953;0.971;0.898	T	0.54234	-0.8324	10	0.40728	T	0.16	-15.2885	7.3019	0.26426	0.0:0.1389:0.301:0.56	.	200;31;261;261	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	261	ENSP00000380557:R261W	ENSP00000380557:R261W	R	-	1	2	2	AKAP8L	15372996	15372996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.390000	0.25115	0.491000	0.48974	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	1	0	1		2	2	2	0		0	0	231		231	225	1	2.060000	-20.000000	1	0.170000	NM_014371			273	269		1044	1032	1		1	1		0	0	231	0		1	1	0	32	0	131	0	273	1044
WIZ	58525	broad.mit.edu	37	19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000389282.4	-	8	4413	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	WIZ_ENST00000599910.2_Missense_Mutation_p.E717D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D|WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1400					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCACACAGCTCGCAGCAGG	0.687																																						ENST00000389282.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997236	0.990000	1.000000																										0				24						c.(4198-4200)gaG>gaT		widely interspaced zinc finger motifs							7.0	8.0	7.0					19																	15535824		2051	4168	6219	SO:0001583	missense	58525	0	0					g.chr19:15535824C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4200G>T	chr19.hg19:g.15535824C>A	ENSP00000373933:p.Glu1400Asp	0					WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D|WIZ_ENST00000599910.2_Missense_Mutation_p.E717D	p.E1400D			1	2	3	2.010022	O95785	WIZ_HUMAN		8	4413	-			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	0	1	hg19	c.4200G>T		1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418217	0.83449	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.29142	1.58;1.58;1.58	5.56	5.56	0.83823	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.112944	0.64402	D	0.000013	T	0.45498	0.1345	L	0.40543	1.245	0.46317	D	0.998986	D;P;D	0.89917	1.0;0.829;1.0	D;P;D	0.91635	0.998;0.675;0.999	T	0.31336	-0.9947	10	0.54805	T	0.06	-25.1891	12.4141	0.55483	0.0:0.9189:0.0:0.0811	.	1400;543;584	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	D	1400;543;584;714	ENSP00000373933:E1400D;ENSP00000263381:E543D;ENSP00000445824:E714D	ENSP00000263381:E543D	E	-	3	2	2	WIZ	15396824	15396824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.037000	0.49775	2.614000	0.88457	0.650000	0.86243	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.286480	1	0.170000	NM_021241			10	10		48	48	1		1	1		0	0	12	0		9.977216e-01	9.999652e-01	0	30	0	85	0	10	48
WIZ	58525	broad.mit.edu	37	19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000389282.4	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	WIZ_ENST00000263381.7_Missense_Mutation_p.R45W|MIR1470_ENST00000600745.1_RNA			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	45					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGTGGACCGGAAGATGCCA	0.647																																						ENST00000389282.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(133-135)Cgg>Tgg		widely interspaced zinc finger motifs							64.0	72.0	69.0					19																	15558986		1980	4136	6116	SO:0001583	missense	58525	8	120900	45				g.chr19:15558986G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.133C>T	chr19.hg19:g.15558986G>A	ENSP00000373933:p.Arg45Trp	0					MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.R45W	p.R45W			1	2	3	2.010022	O95785	WIZ_HUMAN		2	346	-			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	1	1	hg19	c.133C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691988	0.48097	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03635	3.86	3.67	3.67	0.42095	3.67	3.67	0.42095	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	P	0.47350	0.894	B	0.31686	0.134	T	0.54569	-0.8274	8	0.62326	D	0.03	-5.3586	11.0863	0.48089	0.0:0.0:1.0:0.0	.	45	O95785-2	.	W	45	ENSP00000373933:R45W	ENSP00000263381:R45W	R	-	1	2	2	WIZ	15419986	15419986	0.986000	0.35501	0.974000	0.42286	0.738000	0.42128	2.482000	0.45224	2.043000	0.60533	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	102		102	98	1	2.060000	-2.819874	1	0.170000	NM_021241			103	102		461	459	1		1	1		0	0	102	0		1	8.652238e-01	0	3	0	15	0	103	461
PGLYRP2	114770	broad.mit.edu	37	19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000340880.4	-	4	1852	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.Y458H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	458					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)			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						CGTCCCTCGTACACGTAGCCG	0.706																																						ENST00000340880.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				28						c.(1372-1374)Tac>Cac		peptidoglycan recognition protein 2							12.0	15.0	14.0					19																	15580712		2179	4257	6436	SO:0001583	missense	114770	0	0					g.chr19:15580712A>G	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.1372T>C	chr19.hg19:g.15580712A>G	ENSP00000345968:p.Tyr458His	0					PGLYRP2_ENST00000292609.4_Missense_Mutation_p.Y458H	p.Y458H	NM_052890.3	NP_443122.3	1	2	3	2.010022	Q96PD5	PGRP2_HUMAN		4	1852	-			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	1	1	hg19	c.1372T>C	CCDS12330.2	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691722	0.88735	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.34;2.34	5.12	5.12	0.69794	5.12	5.12	0.69794	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90145	3.09	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.58763	-0.7579	10	0.87932	D	0	-23.3948	12.8485	0.57844	1.0:0.0:0.0:0.0	.	458;458	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	458	ENSP00000345968:Y458H;ENSP00000292609:Y458H	ENSP00000292609:Y458H	Y	-	1	0	0	PGLYRP2	15441712	15441712	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.939000	0.87685	1.935000	0.56089	0.379000	0.24179	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000	NM_052890			22	22		83	82	1		1	0		0	0	16	0		9.999995e-01	4.776739e-02	0	0	0	2	0	22	83
CYP4F8	11283	broad.mit.edu	37	19	15728970	15728970	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15728970C>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCCTGCAGAGCTTGTGGTGGT	0.542																																						ENST00000441682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26								cytochrome P450, family 4, subfamily F, polypeptide 8							103.0	104.0	104.0					19																	15728970		2130	4263	6393			11283	0	0					g.chr19:15728970C>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		chr19.hg19:g.15728970C>A		0									1	2	3	2.010022	P98187	CP4F8_HUMAN		0	407	+				RNA	SNP	ENST00000441682.2	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_007253			90	87		439	424	0		1			0	0	124	0		1	0	0	0	0	0	0	90	439
MBD3	53615	broad.mit.edu	37	19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000434436.3	-	6	929	c.800C>T	c.(799-801)gCt>gTt	p.A267V	AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_Missense_Mutation_p.A211V	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	267					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gtcgtcctcAGCGCAGGCCTT	0.716																																						ENST00000434436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(799-801)gCt>gTt		methyl-CpG binding domain protein 3							36.0	35.0	35.0					19																	1578415		2203	4300	6503	SO:0001583	missense	53615	0	0					g.chr19:1578415G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.800C>T	chr19.hg19:g.1578415G>A	ENSP00000412302:p.Ala267Val	0					MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_Missense_Mutation_p.A211V|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V	p.A267V	NM_001281453.1	NP_001268382.1	1	2	3	2.010022	O95983	MBD3_HUMAN		6	929	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	1	1	hg19	c.800C>T	CCDS12072.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535481	0.64972	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98493	-4.96	4.32	-2.66	0.06077	4.32	-2.66	0.06077	.	0.849959	0.10277	N	0.694043	D	0.92293	0.7555	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84772	0.0768	10	0.66056	D	0.02	-1.199	1.1137	0.01710	0.2568:0.2808:0.3202:0.1423	.	235;267	O95983-2;O95983	.;MBD3_HUMAN	V	235;267	ENSP00000156825:A267V	ENSP00000156825:A267V	A	-	2	0	0	MBD3	1529415	1529415	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.207000	0.17395	-0.314000	0.08716	0.313000	0.20887	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	1	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_003926			55	53		255	253	1		1	1		0	0	42	0		1	1	0	47	0	113	0	55	255
CYP4F8	11283	broad.mit.edu	37	19	15733064	15733064	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	ENST00000441682.2	+	0	622							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGGCAGCACCTGTCTGGATG	0.587																																						ENST00000441682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26								cytochrome P450, family 4, subfamily F, polypeptide 8							59.0	58.0	59.0					19																	15733064		2201	4300	6501			11283	0	0					g.chr19:15733064C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		chr19.hg19:g.15733064C>T		0									1	2	3	2.010022	P98187	CP4F8_HUMAN		0	622	+				RNA	SNP	ENST00000441682.2	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_007253			42	40		161	158	0		1			0	0	56	0		1	0	0	0	0	0	0	42	161
CYP4F12	66002	broad.mit.edu	37	19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A	rs201727887	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	146					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R146H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AAGTGGAGCCGCCACCGTCGG	0.552													.|||	8	0.00159744	0.003	0.0	5008	,	,		18381	0.004		0.0	False		,,,				2504	0.0					ENST00000550308.1	1.000000	0.250000	6.800000e-01	3.500000e-01	0.480000	0.529366	0.480000	0.450000																										1	Substitution - Missense(1)	p.R146H(1)	large_intestine(1)	41						c.(436-438)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 12	Fingolimod(DB08868)	G	HIS/ARG	7,4397		0,7,2195	26.0	30.0	29.0		437	-3.0	0.0	19		29	2,8592		0,2,4295	no	missense	CYP4F12	NM_023944.3	29	0,9,6490	AA,AG,GG		0.0233,0.1589,0.0692	benign	146/525	15791241	9,12989	2202	4297	6499	SO:0001583	missense	66002	68	121344	48				g.chr19:15791241G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.437G>A	chr19.hg19:g.15791241G>A	ENSP00000448998:p.Arg146His	0					CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	p.R146H	NM_023944.3	NP_076433	1	2	3	2.010022	Q9HCS2	CP4FC_HUMAN		5	817	+	Acute lymphoblastic leukemia(2;0.0367)		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	0	1	hg19	c.437G>A	CCDS42517.1	0	.	.	.	.	.	.	.	.	.	.	.	3.972	-0.008247	0.07727	0.001589	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.92	-2.95	0.05564	2.92	-2.95	0.05564	.	0.171432	0.39475	N	0.001360	T	0.54983	0.1892	L	0.53249	1.67	0.22693	N	0.998841	B;B	0.28439	0.212;0.031	B;B	0.32465	0.146;0.04	T	0.50575	-0.8812	10	0.44086	T	0.13	.	7.658	0.28386	0.5238:0.0:0.4762:0.0	.	146;146	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	146	ENSP00000448998:R146H;ENSP00000321821:R146H	ENSP00000321821:R146H	R	+	2	0	0	CYP4F12	15652241	15652241	0.000000	0.05858	0.020000	0.16555	0.049000	0.14656	-0.517000	0.06275	-0.303000	0.08856	-0.458000	0.05436	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	0	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-3.952353	1	0.170000				11	12		274	271	0		1	1		0	0	52	0		9.983585e-01	4.642043e-01	0	3	0	35	0	11	274
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	165					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CCTATATAACGATCTTCAACA	0.537																																						ENST00000550308.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T165T(1)	skin(1)	41						c.(493-495)acG>acA		cytochrome P450, family 4, subfamily F, polypeptide 12	Fingolimod(DB08868)						52.0	52.0	52.0					19																	15791299		2203	4300	6503	SO:0001819	synonymous_variant	66002	1	121412	39				g.chr19:15791299G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.495G>A	chr19.hg19:g.15791299G>A		0					CYP4F12_ENST00000324632.10_Silent_p.T165T	p.T165T	NM_023944.3	NP_076433	1	2	3	2.010022	Q9HCS2	CP4FC_HUMAN		5	875	+	Acute lymphoblastic leukemia(2;0.0367)		E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	0	1	hg19	c.495G>A	CCDS42517.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	0		19	4	2	1		1	1	54		54	54	1	2.060000	-20.000000	1	0.170000				51	50		273	267	1		1	1		1	0	54	0		9.999827e-01	6.905793e-01	0	9	0	20	0	51	273
CYP4F12	66002	broad.mit.edu	37	19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	240					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CCAGCATATCCTCCAGCACAT	0.562																																						ENST00000550308.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(718-720)Ctc>Atc		cytochrome P450, family 4, subfamily F, polypeptide 12	Fingolimod(DB08868)						78.0	78.0	78.0					19																	15794373		2201	4299	6500	SO:0001583	missense	66002	0	0					g.chr19:15794373C>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.718C>A	chr19.hg19:g.15794373C>A	ENSP00000448998:p.Leu240Ile	0					CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	p.L240I	NM_023944.3	NP_076433	1	2	3	2.010022	Q9HCS2	CP4FC_HUMAN		7	1098	+	Acute lymphoblastic leukemia(2;0.0367)		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	1	1	hg19	c.718C>A	CCDS42517.1	1	.	.	.	.	.	.	.	.	.	.	.	6.064	0.380036	0.11466	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	1.4	0.22301	2.46	1.4	0.22301	.	0.321305	0.24412	U	0.038749	T	0.53449	0.1797	L	0.47190	1.495	0.09310	N	1	B	0.24576	0.106	B	0.31337	0.128	T	0.35500	-0.9786	10	0.22706	T	0.39	.	4.9421	0.13971	0.0:0.69:0.0:0.31	.	240	Q9HCS2	CP4FC_HUMAN	I	240	ENSP00000448998:L240I;ENSP00000321821:L240I	ENSP00000321821:L240I	L	+	1	0	0	CYP4F12	15655373	15655373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.706000	0.25690	0.477000	0.27464	0.484000	0.47621	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.111589	1	0.170000				126	123		517	506	1		1	1		0	0	86	0		1	9.956489e-01	0	22	0	14	0	126	517
CYP4F12	66002	broad.mit.edu	37	19	15807727	15807727	+	Silent	SNP	C	C	T	rs374923776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	469					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGAACTGCATCGGGCAGGCGT	0.637																																						ENST00000550308.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1405-1407)atC>atT		cytochrome P450, family 4, subfamily F, polypeptide 12	Fingolimod(DB08868)	C		0,4406		0,0,2203	34.0	32.0	33.0		1407	-4.6	0.6	19		33	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		469/525	15807727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66002	1	121410	32				g.chr19:15807727C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1407C>T	chr19.hg19:g.15807727C>T		0					CYP4F12_ENST00000324632.10_Silent_p.I469I	p.I469I	NM_023944.3	NP_076433	1	2	3	2.010022	Q9HCS2	CP4FC_HUMAN		13	1787	+	Acute lymphoblastic leukemia(2;0.0367)		E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	1	1	hg19	c.1407C>T	CCDS42517.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				39	37		153	151	1		1	1		0	0	27	0		1	9.988606e-01	0	17	0	27	0	39	153
OR10H3	26532	broad.mit.edu	37	19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502																																						ENST00000305892.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(274-276)tCc>tTc		olfactory receptor, family 10, subfamily H, member 3							547.0	456.0	487.0					19																	15852477		2203	4300	6503	SO:0001583	missense	26532	1	121412	30				g.chr19:15852477C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.275C>T	chr19.hg19:g.15852477C>T	ENSP00000307130:p.Ser92Phe	0						p.S92F	NM_013938.1	NP_039226.1	1	2	3	2.010022	O60404	O10H3_HUMAN		1	275	+			Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	1	1	hg19	c.275C>T	CCDS12334.1	1	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574859	0.13623	.	.	ENSG00000171936	ENST00000305892	T	0.00605	6.27	2.35	2.35	0.29111	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.608641	0.13515	U	0.382145	T	0.01320	0.0043	M	0.69358	2.11	0.09310	N	1	P	0.49185	0.92	P	0.52909	0.713	T	0.48186	-0.9057	10	0.87932	D	0	.	6.3262	0.21244	0.2945:0.7055:0.0:0.0	.	92	O60404	O10H3_HUMAN	F	92	ENSP00000307130:S92F	ENSP00000307130:S92F	S	+	2	0	0	OR10H3	15713477	15713477	0.092000	0.21681	0.067000	0.19924	0.087000	0.18053	0.648000	0.24828	1.320000	0.45209	0.185000	0.17295	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1	1	0	0		2	2	2	0		0	0	352		352	287	1	2.060000	-20.000000	1	0.170000				336	310		1560	1411	1		1			0	0	352	0		1	0	0	0	0	0	0	336	1560
OR10H3	26532	broad.mit.edu	37	19	15852562	15852562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522																																						ENST00000305892.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(358-360)ggC>ggT		olfactory receptor, family 10, subfamily H, member 3							344.0	277.0	300.0					19																	15852562		2203	4300	6503	SO:0001819	synonymous_variant	26532	0	0					g.chr19:15852562C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.360C>T	chr19.hg19:g.15852562C>T		0						p.G120G	NM_013938.1	NP_039226.1	1	2	3	2.010022	O60404	O10H3_HUMAN		1	360	+			Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	1	1	hg19	c.360C>T	CCDS12334.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1	0	0	0		18	2	2	1		1	1	216		216	214	1	2.060000	-20.000000	1	0.170000				204	201		912	883	1		1			1	0	216	0		1	0	0	0	0	0	0	204	912
CYP4F2	8529	broad.mit.edu	37	19	15990189	15990189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990189G>T	ENST00000221700.6	-	12	1459	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAGCCAGAGGTGACCTCTC	0.602																																						ENST00000221700.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1363-1365)cCt>cAt		cytochrome P450, family 4, subfamily F, polypeptide 2							151.0	154.0	153.0					19																	15990189		2203	4300	6503	SO:0001583	missense	8529	0	0					g.chr19:15990189G>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1364C>A	chr19.hg19:g.15990189G>T	ENSP00000221700:p.Pro455His	0						p.P455H	NM_001082.3	NP_001073.3	1	2	3	2.010022				12	1459	-				Missense_Mutation	SNP	ENST00000221700.6	1	0	hg19	c.1364C>A	CCDS12336.1	1	.	.	.	.	.	.	.	.	.	.	g	18.92	3.726074	0.69074	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69435	-0.4	3.05	3.05	0.35203	3.05	3.05	0.35203	.	0.180087	0.37136	U	0.002226	D	0.82861	0.5129	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86234	0.1639	10	0.87932	D	0	.	11.868	0.52505	0.0:0.0:1.0:0.0	.	455	P78329	CP4F2_HUMAN	H	455;306	ENSP00000221700:P455H	ENSP00000221700:P455H	P	-	2	0	0	CYP4F2	15851189	15851189	1.000000	0.71417	0.932000	0.37286	0.947000	0.59692	8.266000	0.89871	1.677000	0.50941	0.491000	0.48974	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	0	0	0		23	2	2	2		2	2	239		239	236	1	2.060000	-20.000000	1	0.170000	NM_001082			190	185		926	904	1		1	1		2	0	239	0		1	5.285897e-01	0	6	0	4	0	190	926
CYP4F2	8529	broad.mit.edu	37	19	15990414	15990414	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562																																						ENST00000221700.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1312-1314)gaG>gaT		cytochrome P450, family 4, subfamily F, polypeptide 2							90.0	100.0	96.0					19																	15990414		2203	4300	6503	SO:0001630	splice_region_variant	8529	2	121410	33				g.chr19:15990414C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1314+1G>T	chr19.hg19:g.15990414C>A		0						p.E438D	NM_001082.3	NP_001073.3	1	2	3	2.010022				11	1409	-				Splice_Site	SNP	ENST00000221700.6	1	0	hg19	c.1314G>T	CCDS12336.1	1	.	.	.	.	.	.	.	.	.	.	c	9.571	1.120908	0.20877	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72835	-0.69	2.78	2.78	0.32641	2.78	2.78	0.32641	.	0.306318	0.25801	U	0.028219	T	0.66470	0.2792	L	0.49256	1.55	0.80722	D	1	B	0.26902	0.163	B	0.37451	0.25	T	0.62277	-0.6888	9	.	.	.	.	11.279	0.49184	0.0:1.0:0.0:0.0	.	438	P78329	CP4F2_HUMAN	D	438;289	ENSP00000221700:E438D	.	E	-	3	2	2	CYP4F2	15851414	15851414	1.000000	0.71417	0.991000	0.47740	0.241000	0.25554	1.513000	0.35823	1.528000	0.49103	0.491000	0.48974	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	0		2	2	2	0		0	0	179		179	176	1	2.060000	-20.000000	1	0.170000	NM_001082	Missense_Mutation		110	108		621	609	1		1	0		0	0	179	0		1	1.118720e-01	0	0	0	4	0	110	621
CYP4F2	8529	broad.mit.edu	37	19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCTTCATGCACATGGTCA	0.587																																						ENST00000221700.6	1.000000	0.260000	5.200000e-01	3.300000e-01	0.400000	0.456602	0.400000	0.400000																										0				46						c.(1150-1152)tgC>tgA		cytochrome P450, family 4, subfamily F, polypeptide 2							99.0	103.0	102.0					19																	15990671		2203	4300	6503	SO:0001587	stop_gained	8529	0	0					g.chr19:15990671G>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1152C>A	chr19.hg19:g.15990671G>T	ENSP00000221700:p.Cys384*	0						p.C384*	NM_001082.3	NP_001073.3	1	2	3	2.010022				10	1247	-				Nonsense_Mutation	SNP	ENST00000221700.6	0	1	hg19	c.1152C>A	CCDS12336.1	0	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486683	0.63962	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	.	.	.	2.78	0.58	0.17402	2.78	0.58	0.17402	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.332	0.21274	0.2863:0.0:0.7137:0.0	.	.	.	.	X	384;235	.	ENSP00000221700:C384X	C	-	3	2	2	CYP4F2	15851671	15851671	1.000000	0.71417	0.985000	0.45067	0.434000	0.31775	3.838000	0.55828	0.469000	0.27268	0.491000	0.48974	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	0	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-3.448273	1	0.170000	NM_001082			26	26		751	741	0		1	0		0	0	145	0		9.999999e-01	0	0	0	0	1	0	26	751
CYP4F2	8529	broad.mit.edu	37	19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557																																						ENST00000221700.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(958-960)Gca>Tca		cytochrome P450, family 4, subfamily F, polypeptide 2							207.0	211.0	210.0					19																	15997079		2203	4300	6503	SO:0001583	missense	8529	0	0					g.chr19:15997079C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.958G>T	chr19.hg19:g.15997079C>A	ENSP00000221700:p.Ala320Ser	0					CYP4F2_ENST00000011989.7_Intron	p.A320S	NM_001082.3	NP_001073.3	1	2	3	2.010022				8	1053	-				Missense_Mutation	SNP	ENST00000221700.6	1	1	hg19	c.958G>T	CCDS12336.1	1	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427758	0.62733	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71934	-0.61	2.73	2.73	0.32206	2.73	2.73	0.32206	.	0.000000	0.64402	U	0.000006	T	0.80768	0.4686	M	0.69523	2.12	0.49299	D	0.999777	D	0.76494	0.999	D	0.81914	0.995	T	0.82456	-0.0448	10	0.72032	D	0.01	.	11.1798	0.48620	0.0:1.0:0.0:0.0	.	320	P78329	CP4F2_HUMAN	S	320;171	ENSP00000221700:A320S	ENSP00000221700:A320S	A	-	1	0	0	CYP4F2	15858079	15858079	0.999000	0.42202	0.917000	0.36280	0.680000	0.39746	4.503000	0.60407	1.500000	0.48636	0.313000	0.20887	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	1		2	2	2	0		0	0	297		297	295	1	2.060000	-20.000000	1	0.170000	NM_001082			292	288		1289	1264	1		1	1		0	0	297	0		1	3.426751e-02	0	2	0	0	0	292	1289
CYP4F2	8529	broad.mit.edu	37	19	16000481	16000481	+	Missense_Mutation	SNP	C	C	T	rs144233412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16000481C>T	ENST00000221700.6	-	7	765	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F2_ENST00000011989.7_Missense_Mutation_p.A75T	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCAAGATGGCGGCAATATAT	0.502																																						ENST00000221700.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(670-672)Gcc>Acc		cytochrome P450, family 4, subfamily F, polypeptide 2							114.0	118.0	116.0					19																	16000481		2203	4300	6503	SO:0001583	missense	8529	23	121410	48				g.chr19:16000481C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.670G>A	chr19.hg19:g.16000481C>T	ENSP00000221700:p.Ala224Thr	0					CYP4F2_ENST00000011989.7_Missense_Mutation_p.A75T	p.A224T	NM_001082.3	NP_001073.3	1	2	3	2.010022				7	765	-				Missense_Mutation	SNP	ENST00000221700.6	1	0	hg19	c.670G>A	CCDS12336.1	1	.	.	.	.	.	.	.	.	.	.	c	17.23	3.336851	0.60963	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.70869	-0.52;-0.52	2.72	0.391	0.16282	2.72	0.391	0.16282	.	0.000000	0.64402	U	0.000006	T	0.67163	0.2864	M	0.74546	2.27	0.40763	D	0.983027	P;B	0.45078	0.85;0.286	P;B	0.45232	0.474;0.19	T	0.63207	-0.6689	10	0.52906	T	0.07	.	4.7122	0.12879	0.2133:0.657:0.0:0.1297	.	75;224	B4DV75;P78329	.;CP4F2_HUMAN	T	224;75;75	ENSP00000221700:A224T;ENSP00000011989:A75T	ENSP00000011989:A75T	A	-	1	0	0	CYP4F2	15861481	15861481	0.589000	0.26807	0.167000	0.22817	0.942000	0.58702	1.084000	0.30828	0.028000	0.15324	0.305000	0.20034	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	0		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_001082			148	147		622	607	1		1	1		0	0	171	0		1	2.482523e-01	0	3	0	2	0	148	622
TCF3	6929	broad.mit.edu	37	19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TCTGGGGCTTCTCGCTGTTGA	0.642			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5	1.000000	0.300000	6.100000e-01	3.700000e-01	0.470000	0.515144	0.470000	0.460000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)				L	L	PBX1, HLF, TFPT		pre B-ALL		0				16						c.(1747-1749)gaG>gaT		transcription factor 3							92.0	90.0	91.0					19																	1615357		2203	4300	6503	SO:0001583	missense	6929	0	0					g.chr19:1615357C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1749G>T	chr19.hg19:g.1615357C>A	ENSP00000262965:p.Glu583Asp	0					RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.E583D	NM_003200.3	NP_003191.1	1	2	3	2.010022	Q9HCS4	TF7L1_HUMAN		18	2093	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	1	1	hg19	c.1749G>T	CCDS12074.1	0	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195757	0.06259	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97959	-4.63;-4.63	4.32	1.97	0.26223	4.32	1.97	0.26223	Helix-loop-helix DNA-binding (5);	0.233607	0.43110	N	0.000618	D	0.90553	0.7039	N	0.02685	-0.53	0.80722	D	1	B;P;B	0.40376	0.0;0.715;0.002	B;P;B	0.46685	0.003;0.524;0.027	D	0.87914	0.2699	10	0.02654	T	1	-14.8527	5.9245	0.19101	0.0:0.6186:0.0:0.3814	.	583;587;520	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	D	583;587	ENSP00000262965:E583D;ENSP00000378813:E587D	ENSP00000262965:E583D	E	-	3	2	2	TCF3	1566357	1566357	0.949000	0.32298	0.999000	0.59377	0.994000	0.84299	-0.017000	0.12590	0.777000	0.33496	0.555000	0.69702	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-19.952410	1	0.170000	NM_003200			23	23		573	567	0		1	1		0	0	96	0		9.999993e-01	9.374834e-01	0	4	0	114	0	23	573
TCF3	6929	broad.mit.edu	37	19	1615576	1615576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615576C>T	ENST00000395423.3	-	14	1569	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|RNU6-1223P_ENST00000517124.1_RNA			Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGGGAAGAGCGTGGGGCCCG	0.701			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000395423.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)				L	L	PBX1, HLF, TFPT		pre B-ALL		0				16						c.(1540-1542)acG>acA		transcription factor 3																																				SO:0001819	synonymous_variant	6929	3	120360	40				g.chr19:1615576C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000395423.3:c.1542G>A	chr19.hg19:g.1615576C>T		0					RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron	p.T514T			1	2	3	2.010022	Q9HCS4	TF7L1_HUMAN		14	1569	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000395423.3	1	1	hg19	c.1542G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TCF3-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000449374.1	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_003200			55	54		262	258	0		1	0		0	0	35	0		1	0	0	1	0	0	0	55	262
CYP4F11	57834	broad.mit.edu	37	19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCTTGTTCTTGAGGAAATC	0.517																																						ENST00000402119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(862-864)aAg>aCg		cytochrome P450, family 4, subfamily F, polypeptide 11							128.0	120.0	123.0					19																	16034677		2203	4300	6503	SO:0001583	missense	57834	0	0					g.chr19:16034677T>G	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.863A>C	chr19.hg19:g.16034677T>G	ENSP00000384588:p.Lys288Thr	0					CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T	p.K288T	NM_021187.3	NP_067010.3	1	2	3	2.010022				6	1289	-				Missense_Mutation	SNP	ENST00000402119.4	1	1	hg19	c.863A>C	CCDS12337.1	1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.275051	0.40194	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69806	-0.43;-0.43;0.09	2.67	0.362	0.16113	2.67	0.362	0.16113	.	0.189124	0.31347	U	0.007806	T	0.53367	0.1792	L	0.35854	1.095	0.09310	N	1	B;B	0.24675	0.109;0.079	B;B	0.35727	0.209;0.141	T	0.49679	-0.8914	10	0.59425	D	0.04	.	3.7117	0.08423	0.0:0.1429:0.2268:0.6303	.	288;288	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	288	ENSP00000384588:K288T;ENSP00000248041:K288T;ENSP00000319859:K288T	ENSP00000248041:K288T	K	-	2	0	0	CYP4F11	15895677	15895677	0.887000	0.30362	0.029000	0.17559	0.308000	0.27856	1.765000	0.38481	0.216000	0.20781	0.254000	0.18369	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	1	0	1		2	2	2	0		0	0	182		182	181	1	2.060000	-20.000000	1	0.170000	NM_021187			168	166		683	672	1		1	1		0	0	182	0		1	7.171290e-01	0	3	0	9	0	168	683
TCF3	6929	broad.mit.edu	37	19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000395423.3_Missense_Mutation_p.A111T	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CTGCCGTCTGCCGCTCTCCGC	0.697			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)				L	L	PBX1, HLF, TFPT		pre B-ALL		0				16						c.(484-486)Gca>Aca		transcription factor 3							10.0	12.0	11.0					19																	1625590		2175	4270	6445	SO:0001583	missense	6929	0	0					g.chr19:1625590C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.484G>A	chr19.hg19:g.1625590C>T	ENSP00000262965:p.Ala162Thr	0					TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T	p.A162T	NM_003200.3	NP_003191.1	1	2	3	2.010022	Q9HCS4	TF7L1_HUMAN		7	828	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	1	1	hg19	c.484G>A	CCDS12074.1	1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103203	0.08731	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.55234	0.53;0.53;0.53	4.52	3.48	0.39840	4.52	3.48	0.39840	.	0.287580	0.34628	N	0.003805	T	0.41259	0.1151	L	0.46157	1.445	0.32262	N	0.570039	B;B;P	0.37688	0.269;0.012;0.605	B;B;B	0.34093	0.088;0.012;0.175	T	0.52275	-0.8597	10	0.39692	T	0.17	-13.5314	9.4074	0.38471	0.0:0.898:0.0:0.102	.	162;162;111	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	T	162;162;162;111	ENSP00000262965:A162T;ENSP00000344375:A162T;ENSP00000378813:A111T	ENSP00000262965:A162T	A	-	1	0	0	TCF3	1576590	1576590	0.883000	0.30277	0.250000	0.24296	0.053000	0.15095	1.336000	0.33850	0.886000	0.36113	0.561000	0.74099	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_003200			19	19		67	66	0		1	1		0	0	17	0		9.999957e-01	1	0	34	0	95	0	19	67
RAB8A	4218	broad.mit.edu	37	19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	77					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448																																						ENST00000300935.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(229-231)taC>taA		RAB8A, member RAS oncogene family							224.0	191.0	202.0					19																	16232605		2203	4300	6503	SO:0001587	stop_gained	4218	0	0					g.chr19:16232605C>A		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.231C>A	chr19.hg19:g.16232605C>A	ENSP00000300935:p.Tyr77*	0					CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	p.Y77*	NM_005370.4	NP_005361.2	1	2	3	2.010022	P61006	RAB8A_HUMAN		3	504	+			B4DEK7|P24407|Q6FHV5	Nonsense_Mutation	SNP	ENST00000300935.3	0	1	hg19	c.231C>A	CCDS12339.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.382872	0.95967	.	.	ENSG00000167461	ENST00000300935	.	.	.	4.6	3.56	0.40772	4.6	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1928	0.31379	0.0:0.8137:0.0:0.1863	.	.	.	.	X	77	.	ENSP00000300935:Y77X	Y	+	3	2	2	RAB8A	16093605	16093605	0.997000	0.39634	1.000000	0.80357	0.536000	0.34869	0.511000	0.22739	0.942000	0.37525	0.305000	0.20034	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.332338	1	0.170000	NM_005370			84	84		370	365	1		1	1		0	0	98	0		1	1	0	19	0	304	0	84	370
AP1M1	8907	broad.mit.edu	37	19	16314368	16314368	+	Silent	SNP	G	G	A	rs146062531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000291439.3	+	2	590	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000429941.2_Silent_p.S47S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GGATGCTGTCGCCCATCCTGG	0.597																																						ENST00000291439.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(139-141)tcG>tcA		adaptor-related protein complex 1, mu 1 subunit		G	,	3,4403	6.2+/-15.9	0,3,2200	95.0	85.0	88.0		141,141	-9.2	0.2	19	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AP1M1	NM_001130524.1,NM_032493.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	47/436,47/424	16314368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8907	21	121412	46				g.chr19:16314368G>A		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.141G>A	chr19.hg19:g.16314368G>A		0					AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron	p.S47S	NM_032493.3	NP_115882.1	1	2	3	2.010022	Q9BXS5	AP1M1_HUMAN		2	590	+			Q4TTY5	Silent	SNP	ENST00000291439.3	1	1	hg19	c.141G>A	CCDS12342.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-20.000000	1	0.170000	NM_032493			61	60		339	334	1		1	1		0	0	78	0		1	9.999999e-01	0	23	0	111	0	61	339
AP1M1	8907	broad.mit.edu	37	19	16339685	16339685	+	Silent	SNP	C	C	T	rs532714925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000291439.3	+	9	1442	c.993C>T	c.(991-993)agC>agT	p.S331S	AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000429941.2_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	331	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0					ENST00000291439.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(991-993)agC>agT		adaptor-related protein complex 1, mu 1 subunit							226.0	135.0	166.0					19																	16339685		2203	4300	6503	SO:0001819	synonymous_variant	8907	2	121412	31				g.chr19:16339685C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.993C>T	chr19.hg19:g.16339685C>T		0					AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.S259S	p.S331S	NM_032493.3	NP_115882.1	1	2	3	2.010022	Q9BXS5	AP1M1_HUMAN		9	1442	+			Q4TTY5	Silent	SNP	ENST00000291439.3	1	1	hg19	c.993C>T	CCDS12342.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	0	0	1		16	16	2	1		1	1	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_032493			55	54		188	187	1		1	1		1	0	51	0		9.999999e-01	9.999999e-01	0	45	0	196	0	55	188
TMEM38A	79041	broad.mit.edu	37	19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	124						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542																																						ENST00000187762.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(370-372)gTg>gGg		transmembrane protein 38A							207.0	191.0	197.0					19																	16791297		2203	4300	6503	SO:0001583	missense	79041	0	0					g.chr19:16791297T>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.371T>G	chr19.hg19:g.16791297T>G	ENSP00000187762:p.Val124Gly	0						p.V124G	NM_024074.1	NP_076979.1	1	2	3	2.010022	Q9H6F2	TM38A_HUMAN		3	462	+			A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	1	1	hg19	c.371T>G	CCDS12349.1	1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.675985	0.88445	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	9	0.87932	D	0	-30.6057	14.1028	0.65068	0.0:0.0:0.0:1.0	.	124	Q9H6F2	TM38A_HUMAN	G	124	.	ENSP00000187762:V124G	V	+	2	0	0	TMEM38A	16652297	16652297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.903000	0.87398	1.991000	0.58162	0.459000	0.35465	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	0	1		2	2	2	0		0	0	258		258	255	1	2.060000	-20.000000	1	0.170000	NM_024074			246	240		1019	990	1		1	1		0	0	258	0		1	9.995458e-01	0	24	0	23	0	246	1019
NWD1	284434	broad.mit.edu	37	19	16899861	16899861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000552788.1	+	11	2800	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000524140.2_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000379808.3_Silent_p.L934L|NWD1_ENST00000523826.1_Silent_p.L728L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	934							ATP binding (GO:0005524)			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						GGATTACACGCTGCACTTGTG	0.493																																						ENST00000552788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(2800-2802)Ctg>Ttg		NACHT and WD repeat domain containing 1							114.0	111.0	112.0					19																	16899861		2203	4300	6503	SO:0001819	synonymous_variant	284434	0	0					g.chr19:16899861C>T	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.2800C>T	chr19.hg19:g.16899861C>T		0					NWD1_ENST00000379808.3_Silent_p.L934L|NWD1_ENST00000524140.2_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L	p.L934L			1	2	3	2.010022	Q149M9	NWD1_HUMAN		11	2800	+			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	1	1	hg19	c.2800C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_001007525			94	93		327	320	1		1	1		0	0	112	0		1	1.293378e-01	0	2	0	1	0	94	327
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T	rs201898485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000524140.2_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding (GO:0005524)			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						CCCTCCTCGCCGCAGGTAGCG	0.547																																						ENST00000552788.1	1.000000	0.760000	1	9.900000e-01	0.990000	0.983937	0.990000	1.000000																										0				67						c.(3298-3300)gcC>gcT		NACHT and WD repeat domain containing 1							83.0	65.0	71.0					19																	16905360		2203	4300	6503	SO:0001819	synonymous_variant	284434	12	121362	36				g.chr19:16905360C>T	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.3300C>T	chr19.hg19:g.16905360C>T		0					NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000524140.2_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A	p.A1100A			1	2	3	2.010022	Q149M9	NWD1_HUMAN		13	3300	+			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	0	1	hg19	c.3300C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-7.302029	1	0.170000	NM_001007525			8	8		52	52	0		1	1		0	0	20	0		9.910635e-01	1.616005e-01	0	2	0	3	0	8	52
NWD1	284434	broad.mit.edu	37	19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1547							ATP binding (GO:0005524)			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						TCAGAAAGTGCCCAGGGAAAT	0.458																																						ENST00000552788.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996693	0.990000	1.000000																										0				67						c.(4639-4641)gCc>gTc		NACHT and WD repeat domain containing 1							44.0	38.0	40.0					19																	16926085		2203	4300	6503	SO:0001583	missense	284434	0	0					g.chr19:16926085C>T	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.4640C>T	chr19.hg19:g.16926085C>T	ENSP00000447224:p.Ala1547Val	0					NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V	p.A1547V			1	2	3	2.010022	Q149M9	NWD1_HUMAN		18	4640	+			C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	1	1	hg19	c.4640C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305035	0.23736	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.57595	0.51;0.39;0.45;0.45	4.86	2.67	0.31697	4.86	2.67	0.31697	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.12156	0.005;0.007	T	0.24548	-1.0157	8	0.02654	T	1	.	7.5034	0.27530	0.0:0.7179:0.0:0.2821	.	1547;1412	Q149M9;C9J2Y8	NWD1_HUMAN;.	V	1412;1505;1341;1547;1412	ENSP00000447548:A1505V;ENSP00000428955:A1341V;ENSP00000447224:A1547V;ENSP00000340159:A1412V	ENSP00000340159:A1412V	A	+	2	0	0	NWD1	16787085	16787085	0.000000	0.05858	0.006000	0.13384	0.207000	0.24258	0.034000	0.13776	1.169000	0.42739	0.650000	0.86243	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001007525			24	23		177	173	1		1	1		0	0	44	0		9.999997e-01	1.631611e-01	0	2	0	4	0	24	177
SIN3B	23309	broad.mit.edu	37	19	16977334	16977334	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000248054.5	+	12	1794	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000379803.1_Silent_p.S623S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622																																						ENST00000248054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1771-1773)agC>agT		SIN3 transcription regulator family member B							137.0	97.0	111.0					19																	16977334		2203	4300	6503	SO:0001819	synonymous_variant	23309	0	0					g.chr19:16977334C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1773C>T	chr19.hg19:g.16977334C>T		0					SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000379803.1_Silent_p.S623S	p.S591S			1	2	3	2.010022				12	1794	+				Silent	SNP	ENST00000248054.5	1	1	hg19	c.1773C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_015260			69	67		365	361	1		1	1	1	0	0	75	950		1	9.999956e-01	1	26	227	70	778	69	365
SIN3B	23309	broad.mit.edu	37	19	16987345	16987345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000248054.5	+	16	2836	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000379803.1_Silent_p.L971L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667																																						ENST00000248054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2815-2817)Ctg>Ttg		SIN3 transcription regulator family member B							71.0	57.0	62.0					19																	16987345		2203	4300	6503	SO:0001819	synonymous_variant	23309	0	0					g.chr19:16987345C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2815C>T	chr19.hg19:g.16987345C>T		0					SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000379803.1_Silent_p.L971L	p.L939L			1	2	3	2.010022				16	2836	+				Silent	SNP	ENST00000248054.5	1	1	hg19	c.2815C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.511915	1	0.170000	NM_015260			54	54		212	206	1		1	1	1	0	0	32	1413		1	9.997197e-01	1	13	232	38	1266	54	212
F2RL3	9002	broad.mit.edu	37	19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	360					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAACGGTCGCCGGGGGACAC	0.647																																						ENST00000248076.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				7						c.(1078-1080)Ccg>Acg		coagulation factor II (thrombin) receptor-like 3							22.0	21.0	22.0					19																	17001352		2200	4298	6498	SO:0001583	missense	9002	0	0					g.chr19:17001352C>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1078C>A	chr19.hg19:g.17001352C>A	ENSP00000248076:p.Pro360Thr	0						p.P360T	NM_003950.2	NP_003941.2	1	2	3	2.010022	Q96RI0	PAR4_HUMAN		2	1408	+			O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	1	1	hg19	c.1078C>A	CCDS12350.1	1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701811	0.30232	.	.	ENSG00000127533	ENST00000248076	T	0.57436	0.4	4.15	1.75	0.24633	4.15	1.75	0.24633	.	0.781535	0.10545	U	0.662160	T	0.35998	0.0951	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.20840	-1.0263	10	0.14252	T	0.57	.	9.728	0.40344	0.6634:0.3366:0.0:0.0	.	360	Q96RI0	PAR4_HUMAN	T	360	ENSP00000248076:P360T	ENSP00000248076:P360T	P	+	1	0	0	F2RL3	16862352	16862352	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.489000	0.22387	0.676000	0.31285	0.491000	0.48974	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				17	17		68	64	1		1	0		0	0	17	0		9.999733e-01	9.999184e-01	0	0	0	71	0	17	68
CPAMD8	27151	broad.mit.edu	37	19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1603						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						AGCCACTTCATACCTCTTCAT	0.577																																						ENST00000443236.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				82						c.(4948-4950)tAt>tGt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							67.0	75.0	73.0					19																	17010326		2087	4224	6311	SO:0001583	missense	27151	0	0					g.chr19:17010326T>C	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.4949A>G	chr19.hg19:g.17010326T>C	ENSP00000402505:p.Tyr1650Cys	0					CPAMD8_ENST00000597335.1_5'Flank	p.Y1650C	NM_015692.2	NP_056507.2	1	2	3	2.010022	Q8IZJ3	CPMD8_HUMAN		37	4980	-			Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	1	1	hg19	c.4949A>G	CCDS42519.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530404|3.530404	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.81992|0.81992	-0.0678|-0.0678	5|9	.|0.56958	.|D	.|0.05	.|.	11.2812|11.2812	0.49195|0.49195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1661|1650	.|.	.|ENSP00000291440:Y1650C	M|Y	-|-	1|2	0|0	0|0	CPAMD8|CPAMD8	16871326|16871326	16871326|16871326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.702000|5.702000	0.68332|0.68332	1.123000|1.123000	0.41961|0.41961	0.444000|0.444000	0.29173|0.29173	ATG|TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_015692			37	35		203	200	1		1	1		0	0	47	0		1	8.699776e-01	0	12	0	10	0	37	203
CPAMD8	27151	broad.mit.edu	37	19	17013581	17013581	+	Silent	SNP	C	C	T	rs200862393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1521						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						GCATGGGGGGCGGGCGTCCCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17468	0.0		0.001	False		,,,				2504	0.0					ENST00000443236.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(4702-4704)ccG>ccA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C		2,3928		0,2,1963	44.0	52.0	49.0		4704	-4.5	0.0	19		49	9,8273		0,9,4132	no	coding-synonymous	CPAMD8	NM_015692.2		0,11,6095	TT,TC,CC		0.1087,0.0509,0.0901		1568/1933	17013581	11,12201	1965	4141	6106	SO:0001819	synonymous_variant	27151	72	120872	51				g.chr19:17013581C>T	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.4704G>A	chr19.hg19:g.17013581C>T		0						p.P1568P	NM_015692.2	NP_056507.2	1	2	3	2.010022	Q8IZJ3	CPMD8_HUMAN		35	4735	-			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	1	0	hg19	c.4704G>A	CCDS42519.1	1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418387	0.04766	5.09E-4	0.001087	ENSG00000160111	ENST00000443236	.	.	.	2.24	-4.49	0.03504	2.24	-4.49	0.03504	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.9537	0.01381	0.1533:0.3568:0.1509:0.339	.	.	.	.	H	1579	.	.	R	-	2	0	0	CPAMD8	16874581	16874581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.634000	0.00869	-1.209000	0.02631	-2.791000	0.00116	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-2.827185	1	0.170000	NM_015692			114	111		467	460	1		1	1		0	0	100	0		1	9.616922e-01	0	16	0	8	0	114	467
CPAMD8	27151	broad.mit.edu	37	19	17025595	17025595	+	Missense_Mutation	SNP	C	C	T	rs57249432	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17025595C>T	ENST00000443236.1	-	28	3830	c.3799G>A	c.(3799-3801)Gca>Aca	p.A1267T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1220						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						CGAGCCTGTGCGAAGGACTTC	0.612													C|||	34	0.00678914	0.0234	0.0014	5008	,	,		19547	0.0		0.001	False		,,,				2504	0.001					ENST00000443236.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(3799-3801)Gca>Aca		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	THR/ALA	74,3966		1,72,1947	34.0	37.0	36.0		3799	3.0	0.9	19	dbSNP_129	36	4,8368		0,4,4182	yes	missense	CPAMD8	NM_015692.2	58	1,76,6129	TT,TC,CC		0.0478,1.8317,0.6284	probably-damaging	1267/1933	17025595	78,12334	2020	4186	6206	SO:0001583	missense	27151	237	120960	53				g.chr19:17025595C>T	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.3799G>A	chr19.hg19:g.17025595C>T	ENSP00000402505:p.Ala1267Thr	0						p.A1267T	NM_015692.2	NP_056507.2	1	2	3	2.010022	Q8IZJ3	CPMD8_HUMAN		28	3830	-			Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	1	0	hg19	c.3799G>A	CCDS42519.1	1	18	0.008241758241758242	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.50	2.851872	0.51270	0.018317	4.78E-4	ENSG00000160111	ENST00000291440	.	.	.	3.04	3.04	0.35103	3.04	3.04	0.35103	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.075725	0.52532	U	0.000062	T	0.55816	0.1944	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71002	-0.4718	9	0.42905	T	0.14	.	14.0348	0.64638	0.0:1.0:0.0:0.0	rs57249432	1220	Q8IZJ3	CPMD8_HUMAN	T	1267	.	ENSP00000291440:A1267T	A	-	1	0	0	CPAMD8	16886595	16886595	1.000000	0.71417	0.949000	0.38748	0.249000	0.25844	3.483000	0.53194	1.265000	0.44215	0.555000	0.69702	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-2.726000	1	0.170000	NM_015692			45	44		185	180	1		1	0		0	0	45	0		1	9.426361e-01	0	0	0	22	0	45	185
CPAMD8	27151	broad.mit.edu	37	19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	46						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TGATGACTTCCTCCACGCCCG	0.602																																						ENST00000443236.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				82						c.(277-279)gaG>gaT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							36.0	36.0	36.0					19																	17132946		1953	4139	6092	SO:0001583	missense	27151	0	0					g.chr19:17132946C>A	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.279G>T	chr19.hg19:g.17132946C>A	ENSP00000402505:p.Glu93Asp	0					CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	p.E93D	NM_015692.2	NP_056507.2	1	2	3	2.010022	Q8IZJ3	CPMD8_HUMAN		2	310	-			Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	0	1	hg19	c.279G>T	CCDS42519.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997869|1.997869	0.35226|0.35226	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53640|.	0.61;0.62|.	3.06|3.06	2.0|2.0	0.26442|0.26442	3.06|3.06	2.0|2.0	0.26442|0.26442	.|.	0.317597|.	0.24012|.	U|.	0.042378|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.52759|0.52759	1.655|1.655	0.31172|0.31172	N|N	0.703042|0.703042	B|.	0.22276|.	0.067|.	B|.	0.15052|.	0.012|.	T|T	0.47182|0.47182	-0.9137|-0.9137	10|5	0.23302|.	T|.	0.38|.	.|.	6.1895|6.1895	0.20516|0.20516	0.0:0.7583:0.0:0.2417|0.0:0.7583:0.0:0.2417	.|.	46|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|M	93;46|104	ENSP00000291440:E93D;ENSP00000373577:E46D|.	ENSP00000291440:E93D|.	E|R	-|-	3|2	2|0	2|0	CPAMD8|CPAMD8	16993946|16993946	16993946|16993946	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.795000|0.795000	0.44927|0.44927	2.502000|2.502000	0.45398|0.45398	0.290000|0.290000	0.22444|0.22444	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1		2	2	2	0		0	0	16		16	17	1	2.060000	-20.000000	1	0.170000	NM_015692			21	21		54	54	1		1	0		0	0	16	0		9.999993e-01	5.345610e-01	0	0	0	6	0	21	54
MYO9B	4650	broad.mit.edu	37	19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000594824.1	+	2	398	c.251C>A	c.(250-252)cCt>cAt	p.P84H	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H			Q13459	MYO9B_HUMAN	myosin IXB	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AACGACTCGCCTGTGCACCGG	0.637																																						ENST00000594824.1	1.000000	0.260000	8.900000e-01	4.000000e-01	0.590000	0.625946	0.590000	1.000000																										0				39						c.(250-252)cCt>cAt		myosin IXB							41.0	47.0	45.0					19																	17212778		2056	4185	6241	SO:0001583	missense	4650	0	0					g.chr19:17212778C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.251C>A	chr19.hg19:g.17212778C>A	ENSP00000471367:p.Pro84His	0					CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H|MYO9B_ENST00000595618.1_Missense_Mutation_p.P84H	p.P84H			1	2	3	2.010022	Q13459	MYO9B_HUMAN		2	398	+			O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	1	1	hg19	c.251C>A		0	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820121	0.71028	.	.	ENSG00000099331	ENST00000397274	T	0.60672	0.17	4.93	4.93	0.64822	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.47852	D	0.000208	T	0.76198	0.3954	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79249	-0.1881	10	0.62326	D	0.03	.	17.1436	0.86760	0.0:1.0:0.0:0.0	.	84;84;90	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	84	ENSP00000380444:P84H	ENSP00000380444:P84H	P	+	2	0	0	MYO9B	17073778	17073778	1.000000	0.71417	0.082000	0.20525	0.720000	0.41350	7.517000	0.81783	2.264000	0.75181	0.655000	0.94253	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-10.333260	1	0.170000				7	7		145	142	0		1	1		0	0	28	0		9.800072e-01	8.580137e-01	0	2	0	74	0	7	145
USE1	55850	broad.mit.edu	37	19	17327058	17327058	+	Silent	SNP	C	C	T	rs116643434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17327058C>T	ENST00000263897.5	+	4	359	c.312C>T	c.(310-312)ccC>ccT	p.P104P	USE1_ENST00000595101.1_Silent_p.P104P|USE1_ENST00000596136.1_Silent_p.P104P|USE1_ENST00000379776.4_Silent_p.P104P|USE1_ENST00000445667.2_Silent_p.P104P	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	104					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGCGAGTGCCCGCCACAAAGA	0.617													C|||	31	0.0061901	0.0234	0.0	5008	,	,		18240	0.0		0.0	False		,,,				2504	0.0					ENST00000263897.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(310-312)ccC>ccT		unconventional SNARE in the ER 1 homolog (S. cerevisiae)		C		82,3964		1,80,1942	45.0	50.0	48.0		312	-9.8	0.2	19	dbSNP_132	48	1,8365		0,1,4182	no	coding-synonymous	USE1	NM_018467.3		1,81,6124	TT,TC,CC		0.012,2.0267,0.6687		104/260	17327058	83,12329	2023	4183	6206	SO:0001819	synonymous_variant	55850	268	120948	56				g.chr19:17327058C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.312C>T	chr19.hg19:g.17327058C>T		0					USE1_ENST00000379776.4_Silent_p.P104P|USE1_ENST00000595101.1_Silent_p.P104P|USE1_ENST00000445667.2_Silent_p.P104P|USE1_ENST00000596136.1_Silent_p.P104P	p.P104P	NM_018467.3	NP_060937	1	2	3	2.010022	Q9NZ43	USE1_HUMAN		4	359	+			Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	1	0	hg19	c.312C>T	CCDS46011.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	1	0	1		2	2	2	0		0	0	72		72	61	1	2.060000	-2.473695	0	0.170000	NM_018467			61	60		289	256	1		1	1		0	0	72	0		1	1	0	48	0	94	0	61	289
NR2F6	2063	broad.mit.edu	37	19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	315	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)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642																																						ENST00000291442.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				5						c.(943-945)Gcc>Acc		nuclear receptor subfamily 2, group F, member 6							19.0	21.0	20.0					19																	17343433		2203	4297	6500	SO:0001583	missense	2063	1	119482	28				g.chr19:17343433C>T	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.943G>A	chr19.hg19:g.17343433C>T	ENSP00000291442:p.Ala315Thr	0						p.A315T	NM_005234.3	NP_005225.2	1	2	3	2.010022	P10588	NR2F6_HUMAN		4	1662	-			B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	1	1	hg19	c.943G>A	CCDS12352.1	1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681882	0.68042	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.51817	0.69	4.71	4.71	0.59529	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	U	0.000000	T	0.58018	0.2093	L	0.35593	1.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60596	-0.7232	10	0.54805	T	0.06	.	15.175	0.72903	0.0:1.0:0.0:0.0	.	315	P10588	NR2F6_HUMAN	T	315;288	ENSP00000291442:A315T	ENSP00000291442:A315T	A	-	1	0	0	NR2F6	17204433	17204433	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.943000	0.70211	2.168000	0.68352	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				29	29		129	129	1		1	1		0	0	35	0		1	9.999867e-01	0	38	0	46	0	29	129
USHBP1	83878	broad.mit.edu	37	19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 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						TTTTCAGCTGCTTGCAGGTCA	0.592																																						ENST00000252597.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1138-1140)Gca>Aca		Usher syndrome 1C binding protein 1							95.0	82.0	86.0					19																	17369103		2203	4300	6503	SO:0001583	missense	83878	0	0					g.chr19:17369103C>T	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.1138G>A	chr19.hg19:g.17369103C>T	ENSP00000252597:p.Ala380Thr	0					AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	p.A380T	NM_031941.3	NP_114147.2	1	2	3	2.010022				8	1311	-				Missense_Mutation	SNP	ENST00000252597.3	1	1	hg19	c.1138G>A	CCDS12353.1	1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988810	0.18966	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.11	1.9	0.25705	4.11	1.9	0.25705	.	0.777662	0.11749	N	0.533250	T	0.15652	0.0377	L	0.56769	1.78	0.20638	N	0.999875	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.31503	-0.9941	10	0.10111	T	0.7	-0.2273	4.8094	0.13337	0.0:0.6537:0.2258:0.1206	.	316;380	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	T	380;316	ENSP00000252597:A380T;ENSP00000407902:A316T	ENSP00000252597:A380T	A	-	1	0	0	USHBP1	17230103	17230103	0.625000	0.27111	0.533000	0.28001	0.396000	0.30629	1.827000	0.39102	0.994000	0.38892	0.544000	0.68410	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_031941			81	81		336	333	1		1	0		0	0	71	0		1	3.330039e-01	0	1	0	5	0	81	336
USHBP1	83878	broad.mit.edu	37	19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 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						CTCTTTCTGCAGCGTCTCCTT	0.592																																						ENST00000252597.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(631-633)cTg>cCg		Usher syndrome 1C binding protein 1							40.0	35.0	37.0					19																	17373371		2198	4296	6494	SO:0001583	missense	83878	0	0					g.chr19:17373371A>G	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.632T>C	chr19.hg19:g.17373371A>G	ENSP00000252597:p.Leu211Pro	0					USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	p.L211P	NM_031941.3	NP_114147.2	1	2	3	2.010022				4	805	-				Missense_Mutation	SNP	ENST00000252597.3	1	1	hg19	c.632T>C	CCDS12353.1	1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111685	0.56398	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.38722	1.18;1.12	3.83	3.83	0.44106	3.83	3.83	0.44106	.	0.720289	0.11602	N	0.547680	T	0.52789	0.1756	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.982	T	0.50701	-0.8797	10	0.87932	D	0	-9.7072	10.8449	0.46737	1.0:0.0:0.0:0.0	.	147;211;211	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	P	211;147;211	ENSP00000252597:L211P;ENSP00000407902:L147P	ENSP00000252597:L211P	L	-	2	0	0	USHBP1	17234371	17234371	0.997000	0.39634	0.985000	0.45067	0.760000	0.43138	4.935000	0.63498	1.527000	0.49086	0.260000	0.18958	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_031941			51	51		241	237	1		1			0	0	56	0		1	0	0	0	0	0	0	51	241
USHBP1	83878	broad.mit.edu	37	19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 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						TGAAACACATCGGGGGCCCCA	0.652																																						ENST00000252597.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(349-351)Gat>Tat		Usher syndrome 1C binding protein 1							57.0	65.0	62.0					19																	17373654		2203	4300	6503	SO:0001583	missense	83878	0	0					g.chr19:17373654C>A	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.349G>T	chr19.hg19:g.17373654C>A	ENSP00000252597:p.Asp117Tyr	0					USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y	p.D117Y	NM_031941.3	NP_114147.2	1	2	3	2.010022				4	522	-				Missense_Mutation	SNP	ENST00000252597.3	1	1	hg19	c.349G>T	CCDS12353.1	1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053407	0.19907	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23950	1.92;1.88	3.98	1.83	0.25207	3.98	1.83	0.25207	.	0.503260	0.17836	N	0.160369	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69654	0.936;0.965;0.965	T	0.03354	-1.1045	10	0.87932	D	0	-7.551	4.9626	0.14074	0.0:0.7191:0.0:0.2809	.	53;117;117	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	117;53;117	ENSP00000252597:D117Y;ENSP00000407902:D53Y	ENSP00000252597:D117Y	D	-	1	0	0	USHBP1	17234654	17234654	0.005000	0.15991	0.045000	0.18777	0.018000	0.09664	1.028000	0.30128	0.960000	0.38005	0.563000	0.77884	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	0		22	2	2	0		0	1	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_031941			141	140		503	493	1		1	0		0	0	92	0		1	4.813559e-02	0	0	0	2	0	141	503
ABHD8	79575	broad.mit.edu	37	19	17405187	17405187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	353							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1057-1059)gtC>gtT		abhydrolase domain containing 8							120.0	93.0	102.0					19																	17405187		2203	4300	6503	SO:0001819	synonymous_variant	79575	0	0					g.chr19:17405187G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1059C>T	chr19.hg19:g.17405187G>A		0					CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.V353V	NM_024527.4	NP_078803.4	1	2	3	2.010022	Q96I13	ABHD8_HUMAN		4	1298	-			Q9HAE9	Silent	SNP	ENST00000247706.3	1	1	hg19	c.1059C>T	CCDS12355.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_024527			107	106		433	428	1		1	1		0	0	90	0		1	9.999999e-01	0	19	0	74	0	107	433
ANO8	57719	broad.mit.edu	37	19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	991					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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667																																						ENST00000159087.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2971-2973)tCa>tTa		anoctamin 8							79.0	88.0	85.0					19																	17435885		2203	4300	6503	SO:0001583	missense	57719	0	0					g.chr19:17435885G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2972C>T	chr19.hg19:g.17435885G>A	ENSP00000159087:p.Ser991Leu	0						p.S991L	NM_020959.2	NP_066010.1	1	2	3	2.010022	Q9HCE9	ANO8_HUMAN		17	3130	-			A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	1	1	hg19	c.2972C>T	CCDS32949.1	1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914818	0.33815	.	.	ENSG00000074855	ENST00000159087	T	0.67171	-0.25	3.87	3.87	0.44632	3.87	3.87	0.44632	.	0.798338	0.11379	N	0.570010	T	0.74718	0.3753	L	0.36672	1.1	0.37414	D	0.913357	D	0.71674	0.998	D	0.76071	0.987	T	0.76231	-0.3035	10	0.72032	D	0.01	.	13.3031	0.60336	0.0:0.0:1.0:0.0	.	991	Q9HCE9	ANO8_HUMAN	L	991	ENSP00000159087:S991L	ENSP00000159087:S991L	S	-	2	0	0	ANO8	17296885	17296885	0.004000	0.15560	0.017000	0.16124	0.015000	0.08874	1.458000	0.35223	1.697000	0.51169	0.478000	0.44815	TCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	1		2	2	2	0		0	0	207		207	201	1	2.060000	-20.000000	1	0.170000	XM_050644			181	188		933	919	1		1	1		0	0	207	0		1	9.186412e-01	0	4	0	20	0	181	933
ANO8	57719	broad.mit.edu	37	19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	201					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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATCCCACGTGCTGCCAGCTCC	0.602																																						ENST00000159087.4	1.000000	0.340000	7.600000e-01	4.400000e-01	0.570000	0.609711	0.570000	0.550000																										0				27						c.(601-603)Gca>Aca		anoctamin 8							59.0	58.0	58.0					19																	17442206		2203	4300	6503	SO:0001583	missense	57719	0	0					g.chr19:17442206C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.601G>A	chr19.hg19:g.17442206C>T	ENSP00000159087:p.Ala201Thr	0						p.A201T	NM_020959.2	NP_066010.1	1	2	3	2.010022	Q9HCE9	ANO8_HUMAN		6	759	-			A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	1	1	hg19	c.601G>A	CCDS32949.1	0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057035	0.76074	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.054739	0.64402	D	0.000001	T	0.57946	0.2088	L	0.51422	1.61	0.48236	D	0.999615	B	0.29341	0.242	B	0.31547	0.132	T	0.54036	-0.8353	10	0.22706	T	0.39	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	201	Q9HCE9	ANO8_HUMAN	T	201	ENSP00000159087:A201T	ENSP00000159087:A201T	A	-	1	0	0	ANO8	17303206	17303206	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	5.630000	0.67805	2.496000	0.84212	0.306000	0.20318	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	1		2	2	2	0		0	0	73		73	69	1	2.060000	-18.813990	1	0.170000	XM_050644			18	16		367	366	0		1	1		0	0	73	0		9.999816e-01	4.139304e-01	0	4	0	25	0	18	367
ANO8	57719	broad.mit.edu	37	19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	178					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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602																																						ENST00000159087.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(532-534)gCc>gTc		anoctamin 8							67.0	60.0	62.0					19																	17443792		2203	4300	6503	SO:0001583	missense	57719	0	0					g.chr19:17443792G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.533C>T	chr19.hg19:g.17443792G>A	ENSP00000159087:p.Ala178Val	0					GTPBP3_ENST00000361619.5_5'Flank	p.A178V	NM_020959.2	NP_066010.1	1	2	3	2.010022	Q9HCE9	ANO8_HUMAN		5	691	-			A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	1	1	hg19	c.533C>T	CCDS32949.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.507049	0.96386	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.166846	0.52532	D	0.000076	T	0.77758	0.4178	M	0.84683	2.71	0.47949	D	0.999559	D	0.56521	0.976	P	0.58577	0.841	T	0.77504	-0.2563	10	0.30854	T	0.27	.	16.4823	0.84161	0.0:0.0:1.0:0.0	.	178	Q9HCE9	ANO8_HUMAN	V	178	ENSP00000159087:A178V	ENSP00000159087:A178V	A	-	2	0	0	ANO8	17304792	17304792	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.123000	0.94387	2.499000	0.84300	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	XM_050644			54	53		228	227	1		1	1		0	0	56	0		1	9.916518e-01	0	10	0	24	0	54	228
GTPBP3	84705	broad.mit.edu	37	19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	67					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711																																						ENST00000324894.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999709	0.990000	1.000000																										0				18						c.(199-201)Gca>Tca		GTP binding protein 3 (mitochondrial)							13.0	15.0	14.0					19																	17448962		2185	4279	6464	SO:0001583	missense	84705	0	0					g.chr19:17448962G>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.199G>T	chr19.hg19:g.17448962G>T	ENSP00000313818:p.Ala67Ser	0					GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S	p.A67S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	1	2	3	2.010022	Q969Y2	GTPB3_HUMAN		2	267	+			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	0	1	hg19	c.199G>T	CCDS32951.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072863	0.36566	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.29655	1.56;1.57;1.56	5.61	3.47	0.39725	5.61	3.47	0.39725	GTP-binding protein TrmE, N-terminal (2);	0.157689	0.56097	D	0.000040	T	0.30386	0.0763	N	0.16656	0.425	0.28550	N	0.91166	B;B;B;D	0.57899	0.063;0.067;0.12;0.981	B;B;B;P	0.57101	0.032;0.065;0.061;0.813	T	0.07046	-1.0793	10	0.56958	D	0.05	-17.1603	10.3432	0.43891	0.1647:0.0:0.8353:0.0	.	89;67;67;67	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	89;67;67;67	ENSP00000354598:A89S;ENSP00000313818:A67S;ENSP00000351644:A67S	ENSP00000313818:A67S	A	+	1	0	0	GTPBP3	17309962	17309962	1.000000	0.71417	0.620000	0.29132	0.019000	0.09904	2.254000	0.43214	1.371000	0.46172	0.491000	0.48974	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1		2	2	2	0		0	0	17		17	13	1	2.060000	-20.000000	1	0.170000	NM_032620			20	15		106	82	1		1	1		0	0	17	0		9.999663e-01	4.445983e-01	0	3	0	6	0	20	106
GTPBP3	84705	broad.mit.edu	37	19	17449816	17449816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	215					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622																																						ENST00000324894.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(643-645)gaG>gaA		GTP binding protein 3 (mitochondrial)							74.0	69.0	71.0					19																	17449816		2203	4300	6503	SO:0001819	synonymous_variant	84705	0	0					g.chr19:17449816G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.645G>A	chr19.hg19:g.17449816G>A		0					GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000361619.5_Silent_p.E237E	p.E215E	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	1	2	3	2.010022	Q969Y2	GTPB3_HUMAN		5	713	+			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	1	1	hg19	c.645G>A	CCDS32951.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.219695	1	0.170000	NM_032620			76	73		346	340	1		1	1		0	0	89	0		1	9.989880e-01	0	19	0	30	0	76	346
GTPBP3	84705	broad.mit.edu	37	19	17450356	17450356	+	Missense_Mutation	SNP	C	C	T	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	ENST00000324894.8	+	7	990	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	308	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCTGGGTTGCGGGAGGGCGT	0.716																																						ENST00000324894.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(922-924)Cgg>Tgg		GTP binding protein 3 (mitochondrial)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	29.0	28.0	28.0		922,988,922,1018	3.9	1.0	19	dbSNP_134	28	1,8593		0,1,4296	no	missense,missense,missense,missense	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	101,101,101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	308/472,330/515,308/493,340/525	17450356	1,12995	2201	4297	6498	SO:0001583	missense	84705	1	121184	35				g.chr19:17450356C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.922C>T	chr19.hg19:g.17450356C>T	ENSP00000313818:p.Arg308Trp	0					GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W	p.R308W	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	1	2	3	2.010022	Q969Y2	GTPB3_HUMAN		7	990	+			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	0	1	hg19	c.922C>T	CCDS32951.1	1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209797	0.79240	0.0	1.16E-4	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.18016	2.24;2.24;2.24	4.95	3.92	0.45320	4.95	3.92	0.45320	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.057107	0.64402	D	0.000001	T	0.56920	0.2018	H	0.98577	4.27	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;0.998	T	0.71477	-0.4581	10	0.87932	D	0	-20.3885	11.2894	0.49241	0.0:0.909:0.0:0.091	.	330;308;308;340	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	W	330;308;340	ENSP00000354598:R330W;ENSP00000313818:R308W;ENSP00000351644:R340W	ENSP00000313818:R308W	R	+	1	2	2	GTPBP3	17311356	17311356	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.348000	0.44045	1.217000	0.43442	0.491000	0.48974	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_032620			58	56		241	234	0		1	1		0	0	32	0		1	9.788518e-01	0	8	0	20	0	58	241
GTPBP3	84705	broad.mit.edu	37	19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	381	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCTGTCCCCGGAGGGCCC	0.687																																						ENST00000324894.8	1.000000	0.300000	9.000000e-01	4.400000e-01	0.620000	0.651704	0.620000	1.000000																										0				18						c.(1141-1143)Ccg>Tcg		GTP binding protein 3 (mitochondrial)							34.0	34.0	34.0					19																	17452019		2203	4300	6503	SO:0001583	missense	84705	0	0					g.chr19:17452019C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1141C>T	chr19.hg19:g.17452019C>T	ENSP00000313818:p.Pro381Ser	0					GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S	p.P381S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	1	2	3	2.010022	Q969Y2	GTPB3_HUMAN		8	1209	+			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	1	1	hg19	c.1141C>T	CCDS32951.1	0	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093545	0.20471	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13420	2.59;2.59;2.59	5.31	-10.6	0.00265	5.31	-10.6	0.00265	.	1.867520	0.02671	N	0.108547	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	1.6133	1.9569	0.03378	0.1559:0.2459:0.3338:0.2643	.	403;381;360;413	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	403;381;413	ENSP00000354598:P403S;ENSP00000313818:P381S;ENSP00000351644:P413S	ENSP00000313818:P381S	P	+	1	0	0	GTPBP3	17313019	17313019	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.115000	0.00598	-1.760000	0.01312	-1.370000	0.01191	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-11.994930	1	0.170000	NM_032620			9	9		174	170	1		1	1		0	0	39	0		9.939940e-01	6.844548e-01	0	5	0	41	0	9	174
PLVAP	83483	broad.mit.edu	37	19	17487909	17487909	+	Silent	SNP	G	G	A	rs369742034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	63					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)				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						CTCGGCGCTCGGTGGCCTGCA	0.597																																						ENST00000252590.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(187-189)acC>acT		plasmalemma vesicle associated protein		G		0,4406		0,0,2203	92.0	77.0	82.0		189	-4.9	0.9	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLVAP	NM_031310.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/443	17487909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83483	8	121412	37				g.chr19:17487909G>A	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.189C>T	chr19.hg19:g.17487909G>A		0						p.T63T	NM_031310.1	NP_112600.1	1	2	3	2.010022	Q9BX97	PLVAP_HUMAN		1	250	-			Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	1	1	hg19	c.189C>T	CCDS32952.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_031310			57	57		209	206	1		1	0		0	0	46	0		1	1	0	1	0	777	0	57	209
BST2	684	broad.mit.edu	37	19	17516300	17516300	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	29					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)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542																																						ENST00000252593.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(85-87)Ctg>Ttg		bone marrow stromal cell antigen 2							147.0	122.0	130.0					19																	17516300		2203	4300	6503	SO:0001819	synonymous_variant	684	1	121412	28				g.chr19:17516300G>A		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.85C>T	chr19.hg19:g.17516300G>A		0					BST2_ENST00000527220.1_5'UTR|CTD-2521M24.9_ENST00000500836.2_lincRNA	p.L29L	NM_004335.2	NP_004326.1	1	2	3	2.010022	Q10589	BST2_HUMAN		1	157	-			A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	1	1	hg19	c.85C>T	CCDS12358.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_004335			80	80		384	379	1		1	1		0	0	86	0		1	1	0	120	0	1210	0	80	384
SLC27A1	376497	broad.mit.edu	37	19	17581359	17581359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	ENST00000252595.7	+	1	107	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	4					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATGCGGGCTCCGGGTGCGGG	0.771																																						ENST00000252595.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.997156	0.990000	1.000000																										0				23						c.(10-12)Ccg>Tcg		solute carrier family 27 (fatty acid transporter), member 1							4.0	4.0	4.0					19																	17581359		1847	3679	5526	SO:0001583	missense	376497	0	0					g.chr19:17581359C>T	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.10C>T	chr19.hg19:g.17581359C>T	ENSP00000252595:p.Pro4Ser	0					SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	p.P4S	NM_198580.1	NP_940982.1	1	2	3	2.010022	Q6PCB7	S27A1_HUMAN		1	107	+			A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	0	1	hg19	c.10C>T	CCDS32953.1	1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520282	0.44866	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.43294	0.95;0.95	3.33	2.19	0.27852	3.33	2.19	0.27852	.	0.703723	0.12393	U	0.472835	T	0.29158	0.0725	N	0.25647	0.755	0.25964	N	0.982589	B	0.20261	0.043	B	0.19946	0.027	T	0.21586	-1.0241	10	0.56958	D	0.05	.	8.4965	0.33132	0.0:0.5922:0.4078:0.0	.	4	Q6PCB7	S27A1_HUMAN	S	4	ENSP00000413424:P4S;ENSP00000252595:P4S	ENSP00000252595:P4S	P	+	1	0	0	SLC27A1	17442359	17442359	0.003000	0.15002	0.989000	0.46669	0.688000	0.40055	1.100000	0.31025	1.701000	0.51217	0.479000	0.44913	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	1	0	0		2	2	2	0		0	0	8		8	6	1	2.060000	-19.940520	1	0.170000	NM_198580			8	7		31	27	0		1	0		0	0	8	0		9.858791e-01	2.175675e-01	0	0	0	4	0	8	31
SLC27A1	376497	broad.mit.edu	37	19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A	rs200011104		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	617					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597																																						ENST00000252595.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1849-1851)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 1							89.0	75.0	80.0					19																	17615330		2203	4300	6503	SO:0001583	missense	376497	4	121412	38				g.chr19:17615330G>A	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.1850G>A	chr19.hg19:g.17615330G>A	ENSP00000252595:p.Arg617Gln	0					SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	p.R617Q	NM_198580.1	NP_940982.1	1	2	3	2.010022	Q6PCB7	S27A1_HUMAN		12	1947	+			A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	1	1	hg19	c.1850G>A	CCDS32953.1	1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188459	0.06299	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.46819	0.86;0.86	4.13	1.87	0.25490	4.13	1.87	0.25490	.	0.145401	0.47852	N	0.000208	T	0.30103	0.0754	L	0.28115	0.83	0.24052	N	0.99605	B;B	0.22080	0.013;0.064	B;B	0.11329	0.004;0.006	T	0.13953	-1.0490	10	0.33141	T	0.24	-18.0686	8.3662	0.32389	0.0931:0.2886:0.6184:0.0	.	438;617	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	617	ENSP00000413424:R617Q;ENSP00000252595:R617Q	ENSP00000252595:R617Q	R	+	2	0	0	SLC27A1	17476330	17476330	0.423000	0.25482	0.921000	0.36526	0.308000	0.27856	1.473000	0.35387	-0.076000	0.12775	-1.134000	0.01955	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.996363	1	0.170000	NM_198580			78	78		355	347	1		1	1		0	0	94	0		1	1	0	40	0	92	0	78	355
PGLS	25796	broad.mit.edu	37	19	17628198	17628198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622																																						ENST00000252603.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.993007	0.990000	1.000000																										0				2						c.(496-498)caG>caT		6-phosphogluconolactonase							80.0	83.0	82.0					19																	17628198		2203	4300	6503	SO:0001630	splice_region_variant	25796	0	0					g.chr19:17628198G>T	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.498+1G>T	chr19.hg19:g.17628198G>T		0					CTD-3131K8.3_ENST00000596192.1_RNA	p.Q166H	NM_012088.2	NP_036220.1	1	2	3	2.010022	O95336	6PGL_HUMAN		3	542	+				Splice_Site	SNP	ENST00000252603.2	1	0	hg19	c.498G>T	CCDS12361.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019145	0.75275	.	.	ENSG00000130313	ENST00000252603	T	0.43688	0.94	5.03	5.03	0.67393	5.03	5.03	0.67393	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058221	0.64402	D	0.000001	T	0.54431	0.1858	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	D	0.64595	0.927	T	0.49615	-0.8921	10	0.35671	T	0.21	-27.893	15.8907	0.79296	0.0:0.0:1.0:0.0	.	166	O95336	6PGL_HUMAN	H	166	ENSP00000252603:Q166H	ENSP00000252603:Q166H	Q	+	3	2	2	PGLS	17489198	17489198	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.833000	0.92089	2.339000	0.79563	0.485000	0.47835	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1	1	0	1		2	2	2	0		0	0	148		148	144	1	2.060000	-3.075755	1	0.170000		Missense_Mutation		67	66		629	609	0		1	1		0	0	148	0		1	1	0	2	0	420	0	67	629
FAM129C	199786	broad.mit.edu	37	19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	208										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						CTTCTCTGCAGCCACCAGGGA	0.632																																						ENST00000335393.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(622-624)Gcc>Tcc		family with sequence similarity 129, member C							61.0	62.0	62.0					19																	17648286		2203	4300	6503	SO:0001583	missense	199786	0	0					g.chr19:17648286G>T	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.622G>T	chr19.hg19:g.17648286G>T	ENSP00000335040:p.Ala208Ser	0					FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR	p.A208S	NM_173544.4	NP_775815	1	2	3	2.010022	Q86XR2	NIBL2_HUMAN		6	760	+			B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	1	1	hg19	c.622G>T	CCDS12362.1	1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.318922	0.23994	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.42	-2.15	0.07102	4.42	-2.15	0.07102	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.776011	0.11182	N	0.590881	T	0.12774	0.0310	M	0.65975	2.015	0.09310	N	0.999998	P;B	0.48294	0.908;0.4	B;B	0.39660	0.306;0.121	T	0.30001	-0.9993	10	0.10902	T	0.67	-2.8879	4.3847	0.11311	0.2913:0.3137:0.3951:0.0	.	208;208	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	208;208;208;208;154	ENSP00000335040:A208S;ENSP00000333447:A208S;ENSP00000341067:A208S;ENSP00000300971:A208S	ENSP00000300971:A208S	A	+	1	0	0	FAM129C	17509286	17509286	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.304000	0.08199	-0.599000	0.05798	-0.359000	0.07587	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_173544			106	104		422	407	1		1			0	0	99	0		1	0	0	0	0	0	0	106	422
UNC13A	23025	broad.mit.edu	37	19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000519716.2	-	35	4090	c.4091A>G	c.(4090-4092)aAa>aGa	p.K1364R	UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1364	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACAGATTTTGGCAAAGAG	0.582																																						ENST00000519716.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(4090-4092)aAa>aGa		unc-13 homolog A (C. elegans)							55.0	60.0	58.0					19																	17735744		2004	4181	6185	SO:0001583	missense	23025	0	0					g.chr19:17735744T>C	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.4091A>G	chr19.hg19:g.17735744T>C	ENSP00000429562:p.Lys1364Arg	0					UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R	p.K1364R	NM_001080421.2	NP_001073890.2	1	2	3	2.010022	Q9UPW8	UN13A_HUMAN		35	4090	-			E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	1	1	hg19	c.4091A>G	CCDS46013.2	1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539558	0.45176	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.11	4.11	0.48088	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.182364	0.46758	N	0.000279	T	0.22003	0.0530	L	0.56769	1.78	0.39639	D	0.97029	B	0.06786	0.001	B	0.15870	0.014	T	0.05767	-1.0865	10	0.44086	T	0.13	-13.8649	11.3947	0.49834	0.0:0.0:0.0:1.0	.	1364	Q9UPW8	UN13A_HUMAN	R	1364;1452;1364;1364;1364;1362	ENSP00000429562:K1364R;ENSP00000400409:K1452R;ENSP00000252773:K1364R;ENSP00000447236:K1364R;ENSP00000447572:K1364R;ENSP00000446831:K1362R	ENSP00000252773:K1364R	K	-	2	0	0	UNC13A	17596744	17596744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.824000	0.55723	1.648000	0.50643	0.254000	0.18369	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000	XM_038604			54	53		239	232	1		1	0		0	0	42	0		1	9.227872e-02	0	0	0	3	0	54	239
UNC13A	23025	broad.mit.edu	37	19	17751421	17751421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17751421C>T	ENST00000519716.2	-	22	2685	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V984I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	896					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)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGCTCATGACGGCAGGCACC	0.627																																						ENST00000519716.2	1.000000	0.720000	1	9.900000e-01	0.990000	0.981363	0.990000	1.000000																										0				61						c.(2686-2688)Gtc>Atc		unc-13 homolog A (C. elegans)							71.0	81.0	78.0					19																	17751421		2193	4286	6479	SO:0001583	missense	23025	0	0					g.chr19:17751421C>T	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.2686G>A	chr19.hg19:g.17751421C>T	ENSP00000429562:p.Val896Ile	0					UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V984I	p.V896I	NM_001080421.2	NP_001073890.2	1	2	3	2.010022	Q9UPW8	UN13A_HUMAN		22	2685	-			E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	0	1	hg19	c.2686G>A	CCDS46013.2	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951123	0.73787	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83419	-1.7;-1.72;-1.7;-1.56;-1.57;-1.71	3.28	3.28	0.37604	3.28	3.28	0.37604	.	0.156800	0.41294	U	0.000915	D	0.82296	0.5006	M	0.78049	2.395	0.51482	D	0.999924	P	0.41569	0.755	B	0.39876	0.312	D	0.85414	0.1139	10	0.66056	D	0.02	-28.8359	12.4632	0.55743	0.0:1.0:0.0:0.0	.	896	Q9UPW8	UN13A_HUMAN	I	896;984;896;896;896;894	ENSP00000429562:V896I;ENSP00000400409:V984I;ENSP00000252773:V896I;ENSP00000447236:V896I;ENSP00000447572:V896I;ENSP00000446831:V894I	ENSP00000252773:V896I	V	-	1	0	0	UNC13A	17612421	17612421	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.340000	0.79292	1.842000	0.53543	0.186000	0.17326	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-11.937590	1	0.170000	XM_038604			5	5		25	25	1		1	0		0	0	16	0		9.433425e-01	3.977273e-02	0	0	0	2	0	5	25
UNC13A	23025	broad.mit.edu	37	19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000519716.2	-	21	2602	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	868					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)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACGCCGTAGCGCATGGCAAA	0.572																																						ENST00000519716.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2602-2604)cGc>cAc		unc-13 homolog A (C. elegans)							97.0	99.0	98.0					19																	17752235		2180	4283	6463	SO:0001583	missense	23025	0	0					g.chr19:17752235C>T	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.2603G>A	chr19.hg19:g.17752235C>T	ENSP00000429562:p.Arg868His	0					UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H	p.R868H	NM_001080421.2	NP_001073890.2	1	2	3	2.010022	Q9UPW8	UN13A_HUMAN		21	2602	-			E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	1	1	hg19	c.2603G>A	CCDS46013.2	1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097947	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84298	-1.81;-1.82;-1.8;-1.67;-1.71;-1.83	3.0	3.0	0.34707	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000005	D	0.91250	0.7242	M	0.82056	2.57	0.44042	D	0.996771	D	0.89917	1.0	D	0.87578	0.998	D	0.91487	0.5209	10	0.54805	T	0.06	-10.0808	11.8562	0.52439	0.0:1.0:0.0:0.0	.	868	Q9UPW8	UN13A_HUMAN	H	868;956;868;868;868;866	ENSP00000429562:R868H;ENSP00000400409:R956H;ENSP00000252773:R868H;ENSP00000447236:R868H;ENSP00000447572:R868H;ENSP00000446831:R866H	ENSP00000252773:R868H	R	-	2	0	0	UNC13A	17613235	17613235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	XM_038604			49	47		219	214	1		1	0		0	0	60	0		1	3.459410e-02	0	0	0	2	0	49	219
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000519716.2	-	18	2161	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572																																						ENST00000519716.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999585	0.990000	1.000000																										0				61						c.(2161-2163)cCg>cTg		unc-13 homolog A (C. elegans)							73.0	69.0	71.0					19																	17756803		1943	4140	6083	SO:0001583	missense	23025	0	0					g.chr19:17756803G>A	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.2162C>T	chr19.hg19:g.17756803G>A	ENSP00000429562:p.Pro721Leu	0					UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L	p.P721L	NM_001080421.2	NP_001073890.2	1	2	3	2.010022	Q9UPW8	UN13A_HUMAN		18	2161	-			E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	1	1	hg19	c.2162C>T	CCDS46013.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214299	0.79352	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	3.85	3.85	0.44370	3.85	3.85	0.44370	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	U	0.000000	D	0.97776	0.9270	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	10	0.87932	D	0	-19.6225	13.6311	0.62196	0.0:0.0:1.0:0.0	.	721	Q9UPW8	UN13A_HUMAN	L	721;809;721;721;721;719	ENSP00000429562:P721L;ENSP00000400409:P809L;ENSP00000252773:P721L;ENSP00000447236:P721L;ENSP00000447572:P721L;ENSP00000446831:P719L	ENSP00000252773:P721L	P	-	2	0	0	UNC13A	17617803	17617803	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	XM_038604			16	16		77	77	1		1	0		0	0	18	0		9.999610e-01	0	0	0	0	1	0	16	77
UNC13A	23025	broad.mit.edu	37	19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000519716.2	-	10	1258	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	420					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)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGCTCAGCCTCAGGGAT	0.677																																						ENST00000519716.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999852	0.990000	1.000000																										0				61						c.(1258-1260)gCt>gTt		unc-13 homolog A (C. elegans)							28.0	32.0	31.0					19																	17766716		2097	4210	6307	SO:0001583	missense	23025	0	0					g.chr19:17766716G>A	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.1259C>T	chr19.hg19:g.17766716G>A	ENSP00000429562:p.Ala420Val	0					UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V	p.A420V	NM_001080421.2	NP_001073890.2	1	2	3	2.010022	Q9UPW8	UN13A_HUMAN		10	1258	-			E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	1	1	hg19	c.1259C>T	CCDS46013.2	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559814	0.27827	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.42;-1.44;-1.42;-1.29;-1.29;-1.42	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.680491	0.13280	U	0.399808	T	0.67785	0.2930	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.54860	-0.8230	10	0.28530	T	0.3	0.0361	11.6373	0.51211	0.0:0.0:1.0:0.0	.	420	Q9UPW8	UN13A_HUMAN	V	420;508;420;420;420;420	ENSP00000429562:A420V;ENSP00000400409:A508V;ENSP00000252773:A420V;ENSP00000447236:A420V;ENSP00000447572:A420V;ENSP00000446831:A420V	ENSP00000252773:A420V	A	-	2	0	0	UNC13A	17627716	17627716	0.000000	0.05858	0.039000	0.18376	0.019000	0.09904	0.074000	0.14662	1.786000	0.52430	0.491000	0.48974	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	XM_038604			20	20		98	94	1		1			0	0	21	0		9.999964e-01	0	0	0	0	0	0	20	98
MAP1S	55201	broad.mit.edu	37	19	17836832	17836832	+	Silent	SNP	C	C	T	rs202224843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	MAP1S_ENST00000544059.2_Silent_p.Y187Y|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	213	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)			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						TCCTGGAGTACGTGGCTGAGT	0.701																																						ENST00000324096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(637-639)taC>taT		microtubule-associated protein 1S							25.0	26.0	26.0					19																	17836832		2202	4299	6501	SO:0001819	synonymous_variant	55201	5	121348	33				g.chr19:17836832C>T	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.639C>T	chr19.hg19:g.17836832C>T		0					CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.Y187Y|MAP1S_ENST00000597681.1_Intron	p.Y213Y	NM_018174.4	NP_060644.4	1	2	3	2.010022	Q66K74	MAP1S_HUMAN		5	790	+			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	1	1	hg19	c.639C>T	CCDS32954.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	1	0	1		2	2	2	0		0	0	21		21	18	1	2.060000	-20.000000	1	0.170000	NM_018174			42	41		111	111	1		1	1		0	0	21	0		1	9.999941e-01	0	14	0	40	0	42	111
ATP8B3	148229	broad.mit.edu	37	19	1785269	1785269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1785269C>T	ENST00000310127.6	-	27	3659	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1151T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1141					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)		ACGCACAGGGCGGTCCAGTAC	0.602																																						ENST00000310127.6	1.000000	0.190000	9.500000e-01	3.400000e-01	0.570000	0.606221	0.570000	1.000000																										0				23						c.(3421-3423)Gcc>Acc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							43.0	52.0	49.0					19																	1785269		2194	4294	6488	SO:0001583	missense	148229	0	0					g.chr19:1785269C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3421G>A	chr19.hg19:g.1785269C>T	ENSP00000311336:p.Ala1141Thr	0					ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1151T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T	p.A1141T	NM_138813.3	NP_620168.1	1	2	3	2.010022	O60423	AT8B3_HUMAN		27	3659	-		Hepatocellular(1079;0.137)	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	0	1	hg19	c.3421G>A	CCDS45901.1	0	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068881	0.20147	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.31;0.31	4.49	-3.01	0.05463	4.49	-3.01	0.05463	.	0.680336	0.14630	N	0.307895	T	0.28134	0.0694	L	0.33624	1.015	0.09310	N	1	P;P	0.40282	0.659;0.711	B;B	0.27170	0.056;0.077	T	0.26052	-1.0114	10	0.19590	T	0.45	.	2.3471	0.04274	0.2432:0.4546:0.1267:0.1755	.	1141;1104	O60423;Q7Z485	AT8B3_HUMAN;.	T	1141;1151;1104	ENSP00000311336:A1141T;ENSP00000443574:A1151T;ENSP00000437115:A1104T	ENSP00000311336:A1141T	A	-	1	0	0	ATP8B3	1736269	1736269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.631000	0.05496	-0.019000	0.14055	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	0	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-7.359229	1	0.170000	NM_138813			4	4		91	89	0		1	0		0	0	25	0		8.868448e-01	3.155902e-03	0	0	0	2	0	4	91
MAP1S	55201	broad.mit.edu	37	19	17837219	17837219	+	Silent	SNP	C	C	T	rs370137934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	MAP1S_ENST00000544059.2_Silent_p.C316C|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	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)			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						TCAACGCCTGCGAGGCCGCGT	0.731																																						ENST00000324096.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				25						c.(1024-1026)tgC>tgT		microtubule-associated protein 1S							6.0	7.0	6.0					19																	17837219		2098	4136	6234	SO:0001819	synonymous_variant	55201	21	116640	36				g.chr19:17837219C>T	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.1026C>T	chr19.hg19:g.17837219C>T		0					CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.C316C|MAP1S_ENST00000597681.1_Intron	p.C342C	NM_018174.4	NP_060644.4	1	2	3	2.010022	Q66K74	MAP1S_HUMAN		5	1177	+			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	0	1	hg19	c.1026C>T	CCDS32954.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_018174			17	16		42	42	0		1	1		0	0	10	0		9.999865e-01	5.610505e-01	0	3	0	3	0	17	42
FCHO1	23149	broad.mit.edu	37	19	17873639	17873639	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000596536.1	+	5	379	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000595033.1_De_novo_Start_InFrame|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	32	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACCAAGGAGCTGGCGGACT	0.597																																						ENST00000596536.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(94-96)gaG>gaA		FCH domain only 1							104.0	90.0	95.0					19																	17873639		2203	4300	6503	SO:0001819	synonymous_variant	23149	0	0					g.chr19:17873639G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.96G>A	chr19.hg19:g.17873639G>A		0					FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000595033.1_De_novo_Start_InFrame|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E	p.E32E	NM_015122.2	NP_055937.1	1	2	3	2.010022	O14526	FCHO1_HUMAN		5	379	+			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	1	0	hg19	c.96G>A	CCDS32955.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_015122			78	76		419	410	1		1	0		0	0	111	0		1	2.436911e-01	0	1	0	5	0	78	419
FCHO1	23149	broad.mit.edu	37	19	17895033	17895033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	ENST00000596536.1	+	25	2498	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000594202.1_Missense_Mutation_p.L739M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	739	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGTGGTGCTGCTGCGATACCA	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000596536.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2215-2217)Ctg>Atg		FCH domain only 1							30.0	24.0	26.0					19																	17895033		2202	4300	6502	SO:0001583	missense	23149	0	0					g.chr19:17895033C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2215C>A	chr19.hg19:g.17895033C>A	ENSP00000470731:p.Leu739Met	0		OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000594202.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M	p.L739M	NM_015122.2	NP_055937.1	1	2	3	2.010022	O14526	FCHO1_HUMAN		25	2498	+			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	0	1	hg19	c.2215C>A	CCDS32955.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396748	0.62177	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.54279	0.58;0.58;0.58	4.18	3.12	0.35913	4.18	3.12	0.35913	Muniscin C-terminal mu homology domain (1);	0.091658	0.43579	D	0.000558	T	0.62841	0.2461	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.983	T	0.63120	-0.6708	10	0.72032	D	0.01	-14.6395	9.1398	0.36897	0.0:0.8846:0.0:0.1154	.	739;739	O14526;O14526-2	FCHO1_HUMAN;.	M	739	ENSP00000252771:L739M;ENSP00000373785:L739M;ENSP00000437978:L739M	ENSP00000252771:L739M	L	+	1	2	2	FCHO1	17756033	17756033	0.977000	0.34250	0.971000	0.41717	0.934000	0.57294	0.894000	0.28350	0.857000	0.35407	0.313000	0.20887	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015122			29	27		84	83	0		1	1		0	0	18	0		1	9.999984e-01	0	24	0	45	0	29	84
B3GNT3	10331	broad.mit.edu	37	19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	148					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)			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						TTCCTGGTGGGCACAGCCTCC	0.672																																						ENST00000318683.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(442-444)gGc>gAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							33.0	33.0	33.0					19																	17919059		2203	4300	6503	SO:0001583	missense	10331	0	0					g.chr19:17919059G>A	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.443G>A	chr19.hg19:g.17919059G>A	ENSP00000321874:p.Gly148Asp	0					B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	p.G148D	NM_014256.3	NP_055071.2	1	2	3	2.010022	Q9Y2A9	B3GN3_HUMAN		2	590	+			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	1	1	hg19	c.443G>A	CCDS12364.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253128	0.80135	.	.	ENSG00000179913	ENST00000318683	D	0.83673	-1.75	3.92	3.92	0.45320	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	D	0.93598	0.7956	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.87932	D	0	.	11.4409	0.50096	0.0:0.0:1.0:0.0	.	148	Q9Y2A9	B3GN3_HUMAN	D	148	ENSP00000321874:G148D	ENSP00000321874:G148D	G	+	2	0	0	B3GNT3	17780059	17780059	1.000000	0.71417	0.967000	0.41034	0.749000	0.42624	9.080000	0.94040	1.733000	0.51620	0.297000	0.19635	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_014256			55	53		239	233	1		1	1		0	0	50	0		1	9.999992e-01	0	54	0	40	0	55	239
JAK3	3718	broad.mit.edu	37	19	17937567	17937567	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000527670.1	-	23	3389	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000458235.1_Silent_p.S1120S			P52333	JAK3_HUMAN	Janus kinase 3	1120					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AAAAGGACAGGGAGTGGTGTT	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(3358-3360)tcC>tcA		Janus kinase 3	Tofacitinib(DB08895)						173.0	146.0	155.0					19																	17937567		2203	4300	6503	SO:0001819	synonymous_variant	3718	0	0					g.chr19:17937567G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3360C>A	chr19.hg19:g.17937567G>T		0					JAK3_ENST00000458235.1_Silent_p.S1120S	p.S1120S			1	2	3	2.010022	P52333	JAK3_HUMAN		23	3389	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	1	1	hg19	c.3360C>A	CCDS12366.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	0		2	2	2	0		0	0	138		138	138	1	2.060000	-2.783843	1	0.170000	NM_000215			119	117		584	574	1		1	1		0	0	138	0		1	9.608659e-01	0	9	0	19	0	119	584
JAK3	3718	broad.mit.edu	37	19	17937570	17937570	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000527670.1	-	23	3386	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000458235.1_Silent_p.H1119H			P52333	JAK3_HUMAN	Janus kinase 3	1119					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGACAGGGAGTGGTGTTTGC	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(3355-3357)caC>caT		Janus kinase 3	Tofacitinib(DB08895)						179.0	149.0	159.0					19																	17937570		2203	4300	6503	SO:0001819	synonymous_variant	3718	0	0					g.chr19:17937570G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3357C>T	chr19.hg19:g.17937570G>A		0					JAK3_ENST00000458235.1_Silent_p.H1119H	p.H1119H			1	2	3	2.010022	P52333	JAK3_HUMAN		23	3386	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	1	1	hg19	c.3357C>T	CCDS12366.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	0		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_000215			140	139		552	540	1		1	1		0	0	136	0		1	9.813486e-01	0	3	0	24	0	140	552
JAK3	3718	broad.mit.edu	37	19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000527670.1	-	18	2586	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000534444.1_Missense_Mutation_p.A853T|JAK3_ENST00000458235.1_Missense_Mutation_p.A853T			P52333	JAK3_HUMAN	Janus kinase 3	853	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTTTCACGGCCACCAGGGCA	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(2557-2559)Gcc>Acc		Janus kinase 3	Tofacitinib(DB08895)						81.0	71.0	75.0					19																	17943451		2203	4300	6503	SO:0001583	missense	3718	0	0					g.chr19:17943451C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2557G>A	chr19.hg19:g.17943451C>T	ENSP00000432511:p.Ala853Thr	0					JAK3_ENST00000458235.1_Missense_Mutation_p.A853T|JAK3_ENST00000534444.1_Missense_Mutation_p.A853T	p.A853T			1	2	3	2.010022	P52333	JAK3_HUMAN		18	2586	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	1	1	hg19	c.2557G>A	CCDS12366.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.066950	0.93898	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.95885	-1.38;-1.38;-3.84	4.37	4.37	0.52481	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060550	0.64402	D	0.000004	D	0.98124	0.9381	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.74023	0.982;0.92	D	0.98936	1.0789	10	0.87932	D	0	-19.9877	14.7749	0.69724	0.0:1.0:0.0:0.0	.	853;853	P52333-2;P52333	.;JAK3_HUMAN	T	853	ENSP00000391676:A853T;ENSP00000432511:A853T;ENSP00000436421:A853T	ENSP00000391676:A853T	A	-	1	0	0	JAK3	17804451	17804451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.433000	0.82419	0.549000	0.68633	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1		20	3	2	1		1	1	97		97	94	1	2.060000	-20.000000	1	0.170000	NM_000215			115	114		448	439	1		1	1		1	0	97	0		1	9.321818e-01	0	4	0	23	0	115	448
JAK3	3718	broad.mit.edu	37	19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000527670.1	-	15	2163	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000534444.1_Missense_Mutation_p.G712S|JAK3_ENST00000458235.1_Missense_Mutation_p.G712S			P52333	JAK3_HUMAN	Janus kinase 3	712	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACCGTGGCGCCGAAGCCCCAC	0.622		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994648	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(2134-2136)Ggc>Agc		Janus kinase 3	Tofacitinib(DB08895)						69.0	73.0	72.0					19																	17945726		2203	4300	6503	SO:0001583	missense	3718	0	0					g.chr19:17945726C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2134G>A	chr19.hg19:g.17945726C>T	ENSP00000432511:p.Gly712Ser	0					JAK3_ENST00000458235.1_Missense_Mutation_p.G712S|JAK3_ENST00000534444.1_Missense_Mutation_p.G712S	p.G712S			1	2	3	2.010022	P52333	JAK3_HUMAN		15	2163	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	1	1	hg19	c.2134G>A	CCDS12366.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983442	0.93044	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87571	-2.27;-2.27;-2.27	4.89	4.89	0.63831	4.89	4.89	0.63831	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	0.95175	0.8436	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.871	D	0.96490	0.9363	10	0.87932	D	0	-18.3596	15.5458	0.76097	0.0:1.0:0.0:0.0	.	712;712	P52333-2;P52333	.;JAK3_HUMAN	S	712	ENSP00000391676:G712S;ENSP00000432511:G712S;ENSP00000436421:G712S	ENSP00000391676:G712S	G	-	1	0	0	JAK3	17806726	17806726	1.000000	0.71417	0.918000	0.36340	0.887000	0.51463	7.375000	0.79646	2.255000	0.74692	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-2.879461	1	0.170000	NM_000215			56	56		505	498	1		1	0		0	0	101	0		1	5.221378e-01	0	0	0	17	0	56	505
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T	rs200499852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(1990-1992)ccG>ccA		Janus kinase 3	Tofacitinib(DB08895)	C		0,4406		0,0,2203	49.0	48.0	48.0		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718	6	121412	37				g.chr19:17945947C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	chr19.hg19:g.17945947C>T		0					JAK3_ENST00000458235.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P	p.P664P			1	2	3	2.010022	P52333	JAK3_HUMAN		14	2021	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	1	1	hg19	c.1992G>A	CCDS12366.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.342667	1	0.170000	NM_000215			62	62		311	306	1		1	1		0	0	76	0		1	9.230689e-01	0	3	0	21	0	62	311
ATP8B3	148229	broad.mit.edu	37	19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000310127.6	-	16	1877	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	547					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)		AGCAGGGCCGCATTGTGGAAG	0.706																																						ENST00000310127.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1639-1641)Gcg>Acg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30.0	36.0	34.0					19																	1796824		2069	4177	6246	SO:0001583	missense	148229	0	0					g.chr19:1796824C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1639G>A	chr19.hg19:g.1796824C>T	ENSP00000311336:p.Ala547Thr	0					ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T	p.A547T	NM_138813.3	NP_620168.1	1	2	3	2.010022	O60423	AT8B3_HUMAN		16	1877	-		Hepatocellular(1079;0.137)	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	1	1	hg19	c.1639G>A	CCDS45901.1	1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273873	0.23221	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64085	-0.08;-0.08;-0.08	3.63	-7.26	0.01466	3.63	-7.26	0.01466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.801560	0.03175	U	0.171296	T	0.40398	0.1115	L	0.39692	1.235	0.09310	N	1	P;B	0.39352	0.669;0.27	B;B	0.34931	0.192;0.192	T	0.45323	-0.9269	10	0.17832	T	0.49	.	0.5644	0.00684	0.3518:0.1859:0.2576:0.2047	.	547;500	O60423;Q7Z485	AT8B3_HUMAN;.	T	547;547;500	ENSP00000311336:A547T;ENSP00000443574:A547T;ENSP00000437115:A500T	ENSP00000311336:A547T	A	-	1	0	0	ATP8B3	1747824	1747824	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.078000	0.00299	-2.174000	0.00772	-0.258000	0.10820	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	1	0	1		2	2	2	0		0	0	35		35	32	1	2.060000	-20.000000	1	0.170000	NM_138813			39	37		158	153	1		1			0	0	35	0		1	0	0	0	0	0	0	39	158
JAK3	3718	broad.mit.edu	37	19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000527670.1	-	13	1854	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	609	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGATACATGTCTATGGCCCCC	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(1825-1827)Gac>Tac		Janus kinase 3	Tofacitinib(DB08895)						104.0	93.0	97.0					19																	17946822		2203	4300	6503	SO:0001583	missense	3718	0	0					g.chr19:17946822C>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1825G>T	chr19.hg19:g.17946822C>A	ENSP00000432511:p.Asp609Tyr	0					JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y	p.D609Y			1	2	3	2.010022	P52333	JAK3_HUMAN		13	1854	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	1	1	hg19	c.1825G>T	CCDS12366.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852453	0.51270	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62105	0.05;0.05;0.05	4.96	4.96	0.65561	4.96	4.96	0.65561	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	T	0.80592	0.4652	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83983	0.0333	10	0.87932	D	0	-38.7413	15.7013	0.77544	0.0:1.0:0.0:0.0	.	609;609	P52333-2;P52333	.;JAK3_HUMAN	Y	609	ENSP00000391676:D609Y;ENSP00000432511:D609Y;ENSP00000436421:D609Y	ENSP00000391676:D609Y	D	-	1	0	0	JAK3	17807822	17807822	1.000000	0.71417	0.721000	0.30653	0.031000	0.12232	7.320000	0.79064	2.294000	0.77228	0.455000	0.32223	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.841257	1	0.170000	NM_000215			83	82		313	312	1		1	1		0	0	67	0		1	9.807051e-01	0	2	0	24	0	83	313
RPL18A	6142	broad.mit.edu	37	19	17973031	17973031	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000222247.5	+	3	408	c.327C>A	c.(325-327)tgC>tgA	p.C109*	RPL18A_ENST00000600147.1_Splice_Site_p.C109*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|RPL18A_ENST00000599898.1_Splice_Site_p.C70*|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	109					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)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607																																						ENST00000222247.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(325-327)tgC>tgA		ribosomal protein L18a							56.0	60.0	58.0					19																	17973031		2203	4300	6503	SO:0001630	splice_region_variant	6142	0	0					g.chr19:17973031C>A	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.328+1C>A	chr19.hg19:g.17973031C>A		0					SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000600147.1_Splice_Site_p.C109*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|RPL18A_ENST00000599898.1_Splice_Site_p.C70*	p.C109*	NM_000980.3	NP_000971.1	1	2	3	2.010022	Q02543	RL18A_HUMAN		3	408	+				Splice_Site	SNP	ENST00000222247.5	0	0	hg19	c.327C>A	CCDS12367.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411930	0.62511	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.18	3.14	0.36123	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9737	0.41770	0.0:0.8976:0.0:0.1024	.	.	.	.	X	109	.	ENSP00000222247:C109X	C	+	3	2	2	RPL18A	17834031	17834031	1.000000	0.71417	0.994000	0.49952	0.247000	0.25773	4.786000	0.62425	0.897000	0.36392	0.557000	0.71058	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	1	0	1		2	2	2	0		0	0	118		118	115	1	2.060000	-20.000000	1	0.170000	NM_000980	Nonsense_Mutation		86	81		527	512	1		1	1		0	0	118	0		1	1	0	172	0	4921	0	86	527
SLC5A5	6528	broad.mit.edu	37	19	17988625	17988625	+	Silent	SNP	G	G	A	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					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)			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						TGAACCAGGCGCAGGTGCAGC	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(790-792)gcG>gcA		solute carrier family 5 (sodium/iodide cotransporter), member 5							151.0	125.0	134.0					19																	17988625		2203	4300	6503	SO:0001819	synonymous_variant	6528	27	121412	48				g.chr19:17988625G>A		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.792G>A	chr19.hg19:g.17988625G>A		0						p.A264A	NM_000453.2	NP_000444.1	1	2	3	2.010022	Q92911	SC5A5_HUMAN		6	1139	+			O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	1	1	hg19	c.792G>A	CCDS12368.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1	1	0	1		2	2	2	0		0	0	83		83	80	1	2.060000	-3.975781	1	0.170000				101	97		455	451	1		1			0	0	83	0		1	0	0	0	0	0	0	101	455
SLC5A5	6528	broad.mit.edu	37	19	17988836	17988836	+	Silent	SNP	C	C	T	rs550545031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					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)			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						GCTGTGGCATCGTCATGTTTG	0.627																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3	1.000000	0.810000	1	9.900000e-01	0.990000	0.983883	0.990000	1.000000																										0				31						c.(901-903)atC>atT		solute carrier family 5 (sodium/iodide cotransporter), member 5							118.0	84.0	95.0					19																	17988836		2203	4300	6503	SO:0001819	synonymous_variant	6528	2	121412	32				g.chr19:17988836C>T		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.903C>T	chr19.hg19:g.17988836C>T		0						p.I301I	NM_000453.2	NP_000444.1	1	2	3	2.010022	Q92911	SC5A5_HUMAN		7	1250	+			O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	1	1	hg19	c.903C>T	CCDS12368.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000				28	28		254	249	0		1	0		0	0	57	0		1	0	0	1	0	0	0	28	254
ATP8B3	148229	broad.mit.edu	37	19	1805955	1805955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000310127.6	-	9	991	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000539485.1_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.2_Silent_p.A198A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	251					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)		AGAGCATGTCGGCCTGGTGTG	0.662																																						ENST00000310127.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999608	0.990000	1.000000																										0				23						c.(751-753)gcC>gcT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30.0	34.0	32.0					19																	1805955		2065	4182	6247	SO:0001819	synonymous_variant	148229	2	120760	34				g.chr19:1805955G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.753C>T	chr19.hg19:g.1805955G>A		0					ATP8B3_ENST00000526092.2_Silent_p.A198A|ATP8B3_ENST00000539485.1_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A	p.A251A	NM_138813.3	NP_620168.1	1	2	3	2.010022	O60423	AT8B3_HUMAN		9	991	-		Hepatocellular(1079;0.137)	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	1	1	hg19	c.753C>T	CCDS45901.1	1	.	.	.	.	.	.	.	.	.	.	g	0.596	-0.830887	0.02713	.	.	ENSG00000130270	ENST00000533993	.	.	.	3.75	-3.8	0.04307	3.75	-3.8	0.04307	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	1.676	0.02822	0.3007:0.1065:0.3783:0.2145	.	.	.	.	L	214	.	.	P	-	2	0	0	ATP8B3	1756955	1756955	0.000000	0.05858	0.869000	0.34112	0.153000	0.21895	-2.113000	0.01331	-0.804000	0.04410	-1.644000	0.00765	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-14.892030	1	0.170000	NM_138813			30	30		195	193	1		1	1		0	0	42	0		1	5.411423e-01	0	5	0	8	0	30	195
CCDC124	115098	broad.mit.edu	37	19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	152					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GGACGCCATTGCAGTGCTCAG	0.701																																						ENST00000597436.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.991065	0.990000	1.000000																										0				3						c.(454-456)Gca>Aca		coiled-coil domain containing 124							17.0	18.0	17.0					19																	18054174		2185	4279	6464	SO:0001583	missense	115098	0	0					g.chr19:18054174G>A	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.454G>A	chr19.hg19:g.18054174G>A	ENSP00000471455:p.Ala152Thr	0					CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	p.A152T	NM_138442.3	NP_612451.1	1	2	3	2.010022	Q96CT7	CC124_HUMAN		4	561	+				Missense_Mutation	SNP	ENST00000597436.1	0	1	hg19	c.454G>A	CCDS12369.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146717	0.37923	.	.	ENSG00000007080	ENST00000445755	T	0.47177	0.85	4.72	3.68	0.42216	4.72	3.68	0.42216	.	0.056223	0.64402	D	0.000001	T	0.43299	0.1241	M	0.75884	2.315	0.80722	D	1	B	0.31256	0.316	B	0.29942	0.109	T	0.25328	-1.0135	10	0.11794	T	0.64	-7.0596	10.5857	0.45282	0.0972:0.0:0.9028:0.0	.	152	Q96CT7	CC124_HUMAN	T	152	ENSP00000408730:A152T	ENSP00000408730:A152T	A	+	1	0	0	CCDC124	17915174	17915174	1.000000	0.71417	0.805000	0.32314	0.197000	0.23852	3.995000	0.57001	0.963000	0.38082	0.491000	0.48974	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-14.941180	1	0.170000	NM_138442			7	7		35	34	0		1	1		0	0	8	0		9.823183e-01	9.999995e-01	0	99	0	177	0	7	35
KCNN1	3780	broad.mit.edu	37	19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A	rs376715013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	286					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGGCACCGTGCTGCTGGTCTT	0.667																																						ENST00000222249.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				8						c.(856-858)Ctg>Atg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	Miconazole(DB01110)|Procaine(DB00721)						42.0	30.0	34.0					19																	18092875		2203	4300	6503	SO:0001583	missense	3780	0	0					g.chr19:18092875C>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.856C>A	chr19.hg19:g.18092875C>A	ENSP00000476519:p.Leu286Met	0						p.L286M	NM_002248.3	NP_002239.2	1	2	3	2.010022	Q92952	KCNN1_HUMAN		5	1175	+			Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	1	1	hg19	c.856C>A		1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681795	0.68042	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	2.88	0.33553	5.11	2.88	0.33553	.	0.000000	0.64402	D	0.000007	T	0.78648	0.4316	M	0.88704	2.975	0.46203	D	0.998929	D	0.89917	1.0	D	0.80764	0.994	T	0.79831	-0.1637	9	0.87932	D	0	-15.4501	8.0594	0.30625	0.0:0.7347:0.0:0.2653	.	286	Q92952	KCNN1_HUMAN	M	303;286	.	ENSP00000222249:L303M	L	+	1	2	2	KCNN1	17953875	17953875	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.218000	0.51192	1.117000	0.41842	0.561000	0.74099	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-2.990370	1	0.170000	NM_002248			12	11		35	33	0		1	1		0	0	19	0		9.992880e-01	1.791597e-01	0	2	0	1	0	12	35
ARRDC2	27106	broad.mit.edu	37	19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000222250.4	+	2	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_ENST00000379656.3_Missense_Mutation_p.T91I|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	96					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657																																						ENST00000222250.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(286-288)aCc>aTc		arrestin domain containing 2							68.0	71.0	70.0					19																	18119532		2203	4300	6503	SO:0001583	missense	27106	0	0					g.chr19:18119532C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.287C>T	chr19.hg19:g.18119532C>T	ENSP00000222250:p.Thr96Ile	0					ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Missense_Mutation_p.T91I	p.T96I	NM_015683.1	NP_056498.1	1	2	3	2.010022	Q8TBH0	ARRD2_HUMAN		2	430	+			B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	1	1	hg19	c.287C>T	CCDS12370.1	1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484246	0.12641	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.13901	3.38;2.55	4.38	0.983	0.19767	4.38	0.983	0.19767	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.742565	0.13154	N	0.409615	T	0.06781	0.0173	N	0.12637	0.245	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42413	-0.9453	10	0.20046	T	0.44	-1.567	8.174	0.31270	0.0:0.5569:0.0:0.4431	.	96;91	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	I	91;96	ENSP00000368977:T91I;ENSP00000222250:T96I	ENSP00000222250:T96I	T	+	2	0	0	ARRDC2	17980532	17980532	0.001000	0.12720	0.003000	0.11579	0.550000	0.35303	0.229000	0.17833	0.080000	0.16959	0.561000	0.74099	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_015683			77	76		438	432	1		1	1		0	0	89	0		1	1	0	18	0	127	0	77	438
REXO1	57455	broad.mit.edu	37	19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	896						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCCCCCAACACCACCTCGTGG	0.667																																						ENST00000170168.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2686-2688)Gtg>Atg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37.0	38.0	38.0					19																	1819095		2203	4298	6501	SO:0001583	missense	57455	0	0					g.chr19:1819095C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2686G>A	chr19.hg19:g.1819095C>T	ENSP00000170168:p.Val896Met	0					CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	p.V896M	NM_020695.3	NP_065746.3	1	2	3	2.010022	Q8N1G1	REXO1_HUMAN		8	2780	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	1	1	hg19	c.2686G>A	CCDS32866.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955945	0.73902	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.16597	2.33	3.98	2.91	0.33838	3.98	2.91	0.33838	.	0.000000	0.64402	U	0.000001	T	0.26231	0.0640	L	0.53249	1.67	0.52501	D	0.999958	P;P	0.51057	0.941;0.874	B;P	0.53146	0.374;0.719	T	0.02150	-1.1205	10	0.72032	D	0.01	-18.672	10.5817	0.45259	0.1932:0.8068:0.0:0.0	.	205;896	B4DWY3;Q8N1G1	.;REXO1_HUMAN	M	896;168	ENSP00000170168:V896M	ENSP00000170168:V896M	V	-	1	0	0	REXO1	1770095	1770095	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.543000	0.60684	0.992000	0.38840	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_020695			44	44		182	175	1		1	1		0	0	48	0		1	9.999997e-01	0	32	0	68	0	44	182
REXO1	57455	broad.mit.edu	37	19	1820033	1820033	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	850						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGCGGTCATAGGCCACCTTCT	0.682																																						ENST00000170168.4	1.000000	0.340000	8.600000e-01	4.700000e-01	0.620000	0.658111	0.620000	0.600000																										0				16						c.(2548-2550)gcC>gcA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37.0	35.0	36.0					19																	1820033		2203	4300	6503	SO:0001819	synonymous_variant	57455	0	0					g.chr19:1820033G>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2550C>A	chr19.hg19:g.1820033G>T		0					CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	p.A850A	NM_020695.3	NP_065746.3	1	2	3	2.010022	Q8N1G1	REXO1_HUMAN		7	2644	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	Q9ULT2	Silent	SNP	ENST00000170168.4	1	1	hg19	c.2550C>A	CCDS32866.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-15.172500	1	0.170000	NM_020695			13	13		244	242	0		1	1		0	0	41	0		9.995490e-01	9.217007e-01	0	5	0	80	0	13	244
IL12RB1	3594	broad.mit.edu	37	19	18187135	18187135	+	Silent	SNP	G	G	A	rs193097863	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.2	-	7	850	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000593993.2_Silent_p.G184G|IL12RB1_ENST00000322153.7_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	184	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.G184G(3)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCCGCAGTCGCCCTAGAATA	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		21705	0.0		0.002	False		,,,				2504	0.0					ENST00000600835.2	1.000000	0.220000	7.300000e-01	3.400000e-01	0.490000	0.539579	0.490000	0.450000																										3	Substitution - coding silent(3)	p.G184G(3)	endometrium(2)|pancreas(1)	8						c.(550-552)ggC>ggT		interleukin 12 receptor, beta 1																																				SO:0001819	synonymous_variant	3594	7	121410	41				g.chr19:18187135G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.552C>T	chr19.hg19:g.18187135G>A		0					IL12RB1_ENST00000593993.2_Silent_p.G184G|IL12RB1_ENST00000322153.7_Silent_p.G184G	p.G184G			1	2	3	2.010022	P42701	I12R1_HUMAN		7	850	-			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	0	1	hg19	c.552C>T	CCDS54232.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3	0	0	1		2	4	2	1		1	0	41		41	41	1	2.060000	-3.164825	1	0.170000				8	8		199	197	0		1	0		1	0	41	0		9.893700e-01	3.215881e-02	0	0	0	26	0	8	199
MAST3	23031	broad.mit.edu	37	19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	359							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCAGTCACGGAGGAAGCCA	0.597																																						ENST00000262811.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1075-1077)cGg>cAg		microtubule associated serine/threonine kinase 3							76.0	80.0	79.0					19																	18239701		2014	4177	6191	SO:0001583	missense	23031	0	0					g.chr19:18239701G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1076G>A	chr19.hg19:g.18239701G>A	ENSP00000262811:p.Arg359Gln	0					MAST3_ENST00000608648.1_3'UTR	p.R359Q	NM_015016.1	NP_055831.1	1	2	3	2.010022	O60307	MAST3_HUMAN		12	1076	+			Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	1	1	hg19	c.1076G>A	CCDS46014.1	1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102796	0.56183	.	.	ENSG00000099308	ENST00000262811	T	0.68479	-0.33	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.236652	0.40818	N	0.001014	T	0.43389	0.1245	N	0.08118	0	0.49483	D	0.999798	B	0.34329	0.449	B	0.20767	0.031	T	0.44128	-0.9348	10	0.18276	T	0.48	-20.9685	17.8957	0.88887	0.0:0.0:1.0:0.0	.	359	O60307	MAST3_HUMAN	Q	359	ENSP00000262811:R359Q	ENSP00000262811:R359Q	R	+	2	0	0	MAST3	18100701	18100701	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.891000	0.87319	2.460000	0.83146	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-2.839281	1	0.170000	XM_038150			62	60		305	304	1		1	1		0	0	92	0		1	9.773341e-01	0	7	0	25	0	62	305
MAST3	23031	broad.mit.edu	37	19	18245404	18245404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627																																						ENST00000262811.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(1498-1500)tcG>tcA		microtubule associated serine/threonine kinase 3							47.0	51.0	49.0					19																	18245404		2164	4279	6443	SO:0001819	synonymous_variant	23031	2	121264	27				g.chr19:18245404G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1500G>A	chr19.hg19:g.18245404G>A		0						p.S500S	NM_015016.1	NP_055831.1	1	2	3	2.010022	O60307	MAST3_HUMAN		15	1500	+			Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	1	1	hg19	c.1500G>A	CCDS46014.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-18.925640	1	0.170000	XM_038150			23	23		66	64	1		1	1		0	0	17	0		9.999998e-01	9.854559e-01	0	6	0	17	0	23	66
MAST3	23031	broad.mit.edu	37	19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	672	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGCACGTTCGGAACGTTAC	0.597																																						ENST00000262811.6	1.000000	0.430000	1	7.500000e-01	0.990000	0.914553	0.990000	1.000000																										0				31						c.(2014-2016)tCg>tTg		microtubule associated serine/threonine kinase 3							43.0	48.0	46.0					19																	18249831		2119	4246	6365	SO:0001583	missense	23031	1	120878	22				g.chr19:18249831C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2015C>T	chr19.hg19:g.18249831C>T	ENSP00000262811:p.Ser672Leu	0						p.S672L	NM_015016.1	NP_055831.1	1	2	3	2.010022	O60307	MAST3_HUMAN		19	2015	+			Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	0	1	hg19	c.2015C>T	CCDS46014.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363653	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.23754	1.89	3.95	3.95	0.45737	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	M	0.79693	2.465	0.58432	D	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.35574	-0.9783	10	0.56958	D	0.05	-12.0036	14.9224	0.70851	0.0:1.0:0.0:0.0	.	672	O60307	MAST3_HUMAN	L	672	ENSP00000262811:S672L	ENSP00000262811:S672L	S	+	2	0	0	MAST3	18110831	18110831	1.000000	0.71417	0.533000	0.28001	0.029000	0.11900	7.713000	0.84693	1.941000	0.56285	0.313000	0.20887	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	0	0	0		2	2	2	0		0	0	16		16	15	1	2.060000	-9.594652	1	0.170000	XM_038150			4	4		36	34	1		1	1		0	0	16	0		8.813743e-01	8.422327e-01	0	17	0	16	0	4	36
MAST3	23031	broad.mit.edu	37	19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	681	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617																																						ENST00000262811.6	1.000000	0.680000	1	9.900000e-01	0.990000	0.975969	0.990000	1.000000																										0				31						c.(2041-2043)Gag>Aag		microtubule associated serine/threonine kinase 3							51.0	57.0	55.0					19																	18249857		2092	4230	6322	SO:0001583	missense	23031	1	120938	24				g.chr19:18249857G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2041G>A	chr19.hg19:g.18249857G>A	ENSP00000262811:p.Glu681Lys	0						p.E681K	NM_015016.1	NP_055831.1	1	2	3	2.010022	O60307	MAST3_HUMAN		19	2041	+			Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	0	1	hg19	c.2041G>A	CCDS46014.1	1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883681	0.72410	.	.	ENSG00000099308	ENST00000262811	T	0.24350	1.86	3.95	3.95	0.45737	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.061031	0.64402	D	0.000005	T	0.45155	0.1328	M	0.83012	2.62	0.80722	D	1	D	0.53151	0.958	P	0.53760	0.734	T	0.51371	-0.8714	10	0.38643	T	0.18	-26.804	14.9224	0.70851	0.0:0.0:1.0:0.0	.	681	O60307	MAST3_HUMAN	K	681	ENSP00000262811:E681K	ENSP00000262811:E681K	E	+	1	0	0	MAST3	18110857	18110857	1.000000	0.71417	0.776000	0.31678	0.139000	0.21198	7.882000	0.87258	1.941000	0.56285	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-12.489220	1	0.170000	XM_038150			6	6		38	36	1		1	1		0	0	16	0		9.636939e-01	9.468428e-01	0	9	0	28	0	6	38
MAST3	23031	broad.mit.edu	37	19	18252741	18252741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.6	+	20	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	723							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTACCTTCGCTGAAAGGAGC	0.617																																						ENST00000262811.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999695	0.990000	1.000000																										0				31						c.(2167-2169)gCt>gAt		microtubule associated serine/threonine kinase 3							26.0	28.0	28.0					19																	18252741		2013	4182	6195	SO:0001583	missense	23031	0	0					g.chr19:18252741C>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2168C>A	chr19.hg19:g.18252741C>A	ENSP00000262811:p.Ala723Asp	0					AC007192.6_ENST00000600364.2_RNA	p.A723D	NM_015016.1	NP_055831.1	1	2	3	2.010022	O60307	MAST3_HUMAN		20	2168	+			Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	0	1	hg19	c.2168C>A	CCDS46014.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597667	0.46318	.	.	ENSG00000099308	ENST00000262811	T	0.67345	-0.26	4.88	4.88	0.63580	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.206159	0.41823	D	0.000806	T	0.52517	0.1739	L	0.29908	0.895	0.45852	D	0.998719	B	0.23377	0.084	B	0.19148	0.024	T	0.48559	-0.9025	10	0.13108	T	0.6	-6.6205	15.1669	0.72837	0.0:1.0:0.0:0.0	.	723	O60307	MAST3_HUMAN	D	723	ENSP00000262811:A723D	ENSP00000262811:A723D	A	+	2	0	0	MAST3	18113741	18113741	0.978000	0.34361	0.455000	0.27031	0.849000	0.48306	6.888000	0.75622	2.270000	0.75569	0.511000	0.50034	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	0	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-19.999990	1	0.170000	XM_038150			13	13		49	47	0		1	1		0	0	11	0		9.996627e-01	9.612715e-01	0	10	0	14	0	13	49
PIK3R2	5296	broad.mit.edu	37	19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	303					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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCAGCGCTGCCGCCTAAACCC	0.617																																						ENST00000593731.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.997571	0.990000	1.000000																										0				24						c.(907-909)cCg>cTg		phosphoinositide-3-kinase, regulatory subunit 2 (beta)	Isoprenaline(DB01064)						24.0	24.0	24.0					19																	18273018		2201	4297	6498	SO:0001583	missense	5296	1	121330	24				g.chr19:18273018C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.908C>T	chr19.hg19:g.18273018C>T	ENSP00000471914:p.Pro303Leu	0					PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L	p.P303L			1	2	3	2.010022	O00459	P85B_HUMAN		8	1468	+			Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	1	1	hg19	c.908C>T	CCDS12371.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437493	0.83885	.	.	ENSG00000105647	ENST00000222254	T	0.52057	0.68	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.114304	0.64402	D	0.000010	T	0.70002	0.3174	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	10	0.87932	D	0	-12.1593	15.8108	0.78561	0.0:1.0:0.0:0.0	.	303	O00459	P85B_HUMAN	L	303	ENSP00000222254:P303L	ENSP00000222254:P303L	P	+	2	0	0	PIK3R2	18134018	18134018	1.000000	0.71417	0.933000	0.37362	0.752000	0.42762	7.627000	0.83176	2.054000	0.61138	0.491000	0.48974	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005027			18	17		117	117	1		1	1		0	0	28	0		9.999875e-01	9.997048e-01	0	27	0	65	0	18	117
PIK3R2	5296	broad.mit.edu	37	19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	667	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACACCAAGCACTGCGTCATCT	0.682																																						ENST00000593731.1	1.000000	0.680000	1	8.300000e-01	0.990000	0.940785	0.990000	1.000000																										0				24						c.(1999-2001)caC>caA		phosphoinositide-3-kinase, regulatory subunit 2 (beta)	Isoprenaline(DB01064)						41.0	40.0	41.0					19																	18279918		2203	4300	6503	SO:0001583	missense	5296	0	0					g.chr19:18279918C>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2001C>A	chr19.hg19:g.18279918C>A	ENSP00000471914:p.His667Gln	0					PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q	p.H667Q			1	2	3	2.010022	O00459	P85B_HUMAN		16	2561	+			Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	1	1	hg19	c.2001C>A	CCDS12371.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627696	0.87560	.	.	ENSG00000105647	ENST00000222254	D	0.91792	-2.91	4.12	4.12	0.48240	4.12	4.12	0.48240	SH2 motif (4);	0.054146	0.64402	D	0.000001	D	0.97514	0.9186	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.9436	16.2136	0.82186	0.0:1.0:0.0:0.0	.	667	O00459	P85B_HUMAN	Q	667	ENSP00000222254:H667Q	ENSP00000222254:H667Q	H	+	3	2	2	PIK3R2	18140918	18140918	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.738000	0.62073	2.251000	0.74343	0.448000	0.29417	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_005027			27	27		293	288	1		1	1		0	0	62	0		1	9.994771e-01	0	17	0	112	0	27	293
IFI30	10437	broad.mit.edu	37	19	18285994	18285994	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.3	+	2	452	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	93					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTCATGGAGATCCTCAATGT	0.607																																						ENST00000407280.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997875	0.990000	1.000000																										0				5						c.(277-279)Atc>Ttc		interferon, gamma-inducible protein 30							45.0	45.0	45.0					19																	18285994		2083	4218	6301	SO:0001583	missense	10437	0	0					g.chr19:18285994A>T	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.277A>T	chr19.hg19:g.18285994A>T	ENSP00000384886:p.Ile93Phe	0					PIK3R2_ENST00000593731.1_3'UTR	p.I93F	NM_006332.3	NP_006323.2	1	2	3	2.010022	P13284	GILT_HUMAN		2	452	+			Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	0	1	hg19	c.277A>T	CCDS46015.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136738	0.56936	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.95	3.92	0.45320	4.95	3.92	0.45320	.	.	.	.	.	T	0.65933	0.2739	L	0.47078	1.49	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.64871	-0.6305	8	0.44086	T	0.13	-1.1563	10.1999	0.43077	0.9147:0.0:0.0853:0.0	.	93	P13284	GILT_HUMAN	F	93	.	ENSP00000384886:I93F	I	+	1	0	0	IFI30	18146994	18146994	0.998000	0.40836	0.980000	0.43619	0.077000	0.17291	3.633000	0.54295	1.996000	0.58369	0.402000	0.26972	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.489840	1	0.170000	NM_006332			10	10		45	44	0		1	1		0	0	15	0		9.975552e-01	1	0	166	0	3365	0	10	45
MPV17L2	84769	broad.mit.edu	37	19	18305800	18305800	+	Silent	SNP	C	C	T	rs200247021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	156						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11026	0.0		0.0	False		,,,				2504	0.0					ENST00000599612.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(466-468)ttC>ttT		MPV17 mitochondrial membrane protein-like 2							111.0	108.0	109.0					19																	18305800		2052	4187	6239	SO:0001819	synonymous_variant	84769	2	120996	32				g.chr19:18305800C>T	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.468C>T	chr19.hg19:g.18305800C>T		0						p.F156F	NM_032683.2	NP_116072.2	1	2	3	2.010022	Q567V2	M17L2_HUMAN		4	568	+			Q96P34|Q96QA0|Q9BSG4	Silent	SNP	ENST00000599612.2	1	1	hg19	c.468C>T	CCDS42522.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	1	0	0		2	2	2	0		0	0	122		122	119	1	2.060000	-20.000000	1	0.170000	NM_032683			66	66		332	330	0		1	1		0	0	122	0		1	9.999998e-01	0	24	0	90	0	66	332
MPV17L2	84769	broad.mit.edu	37	19	18305857	18305857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	175						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622																																						ENST00000599612.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(523-525)acG>acA		MPV17 mitochondrial membrane protein-like 2							109.0	110.0	110.0					19																	18305857		2090	4220	6310	SO:0001819	synonymous_variant	84769	0	0					g.chr19:18305857G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.525G>A	chr19.hg19:g.18305857G>A		0						p.T175T	NM_032683.2	NP_116072.2	1	2	3	2.010022	Q567V2	M17L2_HUMAN		4	625	+			Q96P34|Q96QA0|Q9BSG4	Silent	SNP	ENST00000599612.2	1	1	hg19	c.525G>A	CCDS42522.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	1	0	0		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_032683			101	101		408	401	1		1	1		0	0	137	0		1	1	0	33	0	114	0	101	408
RAB3A	5864	broad.mit.edu	37	19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	90					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552																																						ENST00000222256.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(268-270)Gca>Aca		RAB3A, member RAS oncogene family							212.0	168.0	183.0					19																	18311216		2203	4300	6503	SO:0001583	missense	5864	0	0					g.chr19:18311216C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.268G>A	chr19.hg19:g.18311216C>T	ENSP00000222256:p.Ala90Thr	0					RAB3A_ENST00000464076.3_5'UTR	p.A90T	NM_002866.4	NP_002857.1	1	2	3	2.010022	P20336	RAB3A_HUMAN		3	446	-			A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	1	1	hg19	c.268G>A	CCDS12372.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193455	0.78902	.	.	ENSG00000105649	ENST00000222256	T	0.80123	-1.34	5.0	5.0	0.66597	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	-34.8519	15.7492	0.77969	0.0:1.0:0.0:0.0	.	90	P20336	RAB3A_HUMAN	T	90	ENSP00000222256:A90T	ENSP00000222256:A90T	A	-	1	0	0	RAB3A	18172216	18172216	1.000000	0.71417	0.977000	0.42913	0.123000	0.20343	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	1	0	0		2	2	2	0		0	0	107		107	107	1	2.060000	-3.037852	1	0.170000	NM_002866			70	70		350	336	1		1	1		0	0	107	0		1	8.663920e-01	0	3	0	17	0	70	350
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000597297.1_5'Flank			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGACATGGCCTTGGGCGAGA	0.617																																						ENST00000355502.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(397-399)aaG>aaT		phosphodiesterase 4C, cAMP-specific	Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)						65.0	57.0	60.0					19																	18332977		2203	4300	6503	SO:0001583	missense	5143	0	0					g.chr19:18332977C>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.399G>T	chr19.hg19:g.18332977C>A	ENSP00000347689:p.Lys133Asn	0					PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N|PDE4C_ENST00000539010.1_5'Flank	p.K133N			1	2	3	2.010022	Q08493	PDE4C_HUMAN		6	1270	-			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	1	1	hg19	c.399G>T	CCDS12373.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326528	0.41197	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.75938	0.92;-0.98;-0.87	4.35	1.02	0.19986	4.35	1.02	0.19986	.	3.522130	0.02252	U	0.066744	T	0.78941	0.4363	M	0.68593	2.085	0.80722	D	1	P;P;B	0.49696	0.563;0.927;0.24	B;P;B	0.49999	0.175;0.628;0.192	T	0.66842	-0.5821	10	0.87932	D	0	.	6.1161	0.20127	0.0:0.5024:0.0:0.4976	.	242;133;101	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	212;133;121;101;27;242	ENSP00000347689:K133N;ENSP00000262805:K101N;ENSP00000402091:K27N	ENSP00000262805:K101N	K	-	3	2	2	PDE4C	18193977	18193977	0.096000	0.21769	0.926000	0.36857	0.649000	0.38597	0.483000	0.22292	0.314000	0.23086	0.306000	0.20318	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				44	43		183	180	1		1	1		0	0	46	0		1	7.846101e-01	0	6	0	8	0	44	183
KIAA1683	80726	broad.mit.edu	37	19	18368859	18368859	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000600328.3	-	4	2867	c.2674G>T	c.(2674-2676)Gcc>Tcc	p.A892S	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1079S|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	892						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCACCCCTGGCTGGCTCCCAT	0.652																																						ENST00000600328.3	1.000000	0.290000	5.500000e-01	3.600000e-01	0.440000	0.486391	0.440000	0.430000																										0				37						c.(2674-2676)Gcc>Tcc		KIAA1683							62.0	62.0	62.0					19																	18368859		2202	4294	6496	SO:0001583	missense	80726	0	0					g.chr19:18368859C>A	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.2674G>T	chr19.hg19:g.18368859C>A	ENSP00000470780:p.Ala892Ser	0					KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1079S|PDE4C_ENST00000355502.3_5'Flank	p.A892S			1	2	3	2.010022	Q9H0B3	K1683_HUMAN		4	2867	-			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	1	1	hg19	c.2674G>T	CCDS32958.1	0	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501628	0.12822	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03330	4.13;4.05;3.97	2.8	-0.878	0.10617	2.8	-0.878	0.10617	.	0.495017	0.15187	N	0.275781	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.29862	0.021;0.259	B;B	0.22386	0.014;0.039	T	0.48514	-0.9029	10	0.12766	T	0.61	-0.5975	4.5036	0.11876	0.0:0.3912:0.459:0.1498	.	1079;892	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	1079;892;846;156;506	ENSP00000376213:A1079S;ENSP00000352774:A892S;ENSP00000404501:A846S	ENSP00000352774:A892S	A	-	1	0	0	KIAA1683	18229859	18229859	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	-0.084000	0.12595	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3	0	0	1		2	2	2	0		0	0	144		144	141	1	2.060000	-3.674067	1	0.170000				30	30		797	786	0		1	0		0	0	144	0		1	8.199284e-03	0	1	0	3	0	30	797
JUND	3727	broad.mit.edu	37	19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	307	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652																																						ENST00000252818.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(919-921)aAc>aGc		jun D proto-oncogene							20.0	21.0	21.0					19																	18391375		2202	4297	6499	SO:0001583	missense	3727	0	0					g.chr19:18391375T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.920A>G	chr19.hg19:g.18391375T>C	ENSP00000252818:p.Asn307Ser	0					MIR3188_ENST00000583494.1_RNA	p.N307S	NM_005354.4	NP_005345.3	1	2	3	2.010022	P17535	JUND_HUMAN		1	1057	-			Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	1	1	hg19	c.920A>G	CCDS32959.1	1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784443	0.70222	.	.	ENSG00000130522	ENST00000252818	T	0.71579	-0.58	3.2	3.2	0.36748	3.2	3.2	0.36748	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.81216	0.4776	M	0.76433	2.335	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.82484	-0.0434	10	0.87932	D	0	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	307	P17535	JUND_HUMAN	S	307	ENSP00000252818:N307S	ENSP00000252818:N307S	N	-	2	0	0	JUND	18252375	18252375	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.192000	0.77771	1.465000	0.48006	0.375000	0.23000	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_005354			36	36		124	122	0		1	1		0	0	36	0		1	1	0	66	0	233	0	36	124
LSM4	25804	broad.mit.edu	37	19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	58					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)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.E58K(1)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667																																						ENST00000593829.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										1	Substitution - Missense(1)	p.E58K(1)	large_intestine(1)	6						c.(172-174)Gag>Aag		LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)							51.0	42.0	45.0					19																	18420644		2203	4300	6503	SO:0001583	missense	25804	1	121410	27				g.chr19:18420644C>T	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.172G>A	chr19.hg19:g.18420644C>T	ENSP00000469468:p.Glu58Lys	0					LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	p.E58K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	1	2	3	2.010022	Q9Y4Z0	LSM4_HUMAN		4	425	-				Missense_Mutation	SNP	ENST00000593829.1	1	1	hg19	c.172G>A	CCDS12374.1	1	.	.	.	.	.	.	.	.	.	.	c	32	5.117333	0.94385	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	4.47	0.54385	4.47	4.47	0.54385	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	0.72104	0.3419	M	0.82433	2.59	0.80722	D	1	P	0.47302	0.893	P	0.47376	0.545	T	0.79562	-0.1752	9	0.87932	D	0	9.9037	16.5142	0.84295	0.0:1.0:0.0:0.0	.	58	Q9Y4Z0	LSM4_HUMAN	K	58	.	ENSP00000252816:E58K	E	-	1	0	0	LSM4	18281644	18281644	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.353000	0.66034	2.211000	0.71520	0.457000	0.33378	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.088777	1	0.170000				32	31		158	157	1		1	1		0	0	42	0		1	1	0	189	0	290	0	32	158
LRRC25	126364	broad.mit.edu	37	19	18507051	18507051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	241						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602																																						ENST00000339007.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(721-723)gaC>gaT		leucine rich repeat containing 25							59.0	67.0	64.0					19																	18507051		2203	4300	6503	SO:0001819	synonymous_variant	126364	0	0					g.chr19:18507051G>A	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.723C>T	chr19.hg19:g.18507051G>A		0					LRRC25_ENST00000595840.1_Silent_p.D241D	p.D241D	NM_145256.2	NP_660299.2	1	2	3	2.010022	Q8N386	LRC25_HUMAN		1	1376	-			Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	1	1	hg19	c.723C>T	CCDS12377.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	1	0	1		2	2	2	0		0	0	84		84	80	1	2.060000	-20.000000	1	0.170000	NM_145256			93	91		420	408	0		1	0		0	0	84	0		1	9.975744e-01	0	0	0	43	0	93	420
LRRC25	126364	broad.mit.edu	37	19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	162						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637																																						ENST00000339007.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(484-486)Gcc>Acc		leucine rich repeat containing 25							28.0	27.0	27.0					19																	18507290		2202	4298	6500	SO:0001583	missense	126364	0	0					g.chr19:18507290C>T	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.484G>A	chr19.hg19:g.18507290C>T	ENSP00000340983:p.Ala162Thr	0					LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	p.A162T	NM_145256.2	NP_660299.2	1	2	3	2.010022	Q8N386	LRC25_HUMAN		1	1137	-			Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	1	1	hg19	c.484G>A	CCDS12377.1	1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016135	0.19355	.	.	ENSG00000175489	ENST00000339007	T	0.33216	1.42	3.76	-7.52	0.01341	3.76	-7.52	0.01341	.	2.386640	0.02216	N	0.063617	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10268	-1.0637	10	0.36615	T	0.2	-0.4435	1.8738	0.03214	0.4333:0.3128:0.0959:0.158	.	162	Q8N386	LRC25_HUMAN	T	162	ENSP00000340983:A162T	ENSP00000340983:A162T	A	-	1	0	0	LRRC25	18368290	18368290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.526000	0.00441	-3.308000	0.00191	-0.500000	0.04577	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_145256			55	55		197	195	1		1	0		0	0	53	0		1	9.936949e-01	0	0	0	31	0	55	197
SSBP4	170463	broad.mit.edu	37	19	18538218	18538218	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000348495.6_Silent_p.Q39Q|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	39	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642																																						ENST00000270061.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(115-117)caG>caA		single stranded DNA binding protein 4							56.0	49.0	52.0					19																	18538218		2202	4300	6502	SO:0001819	synonymous_variant	170463	0	0					g.chr19:18538218G>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.117G>A	chr19.hg19:g.18538218G>A		0					SSBP4_ENST00000348495.6_Silent_p.Q39Q|SSBP4_ENST00000598159.2_3'UTR	p.Q39Q	NM_032627.4	NP_116016.1	1	2	3	2.010022	Q9BWG4	SSBP4_HUMAN		2	411	+			Q9BWW5	Silent	SNP	ENST00000270061.7	1	1	hg19	c.117G>A	CCDS12378.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_032627			33	31		118	115	1		1	1		0	0	24	0		1	1	0	28	0	117	0	33	118
SSBP4	170463	broad.mit.edu	37	19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	101						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662																																						ENST00000270061.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				4						c.(301-303)cCc>cAc		single stranded DNA binding protein 4							29.0	30.0	30.0					19																	18541673		2203	4300	6503	SO:0001583	missense	170463	0	0					g.chr19:18541673C>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.302C>A	chr19.hg19:g.18541673C>A	ENSP00000270061:p.Pro101His	0					SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H|SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000599699.2_5'Flank	p.P101H	NM_032627.4	NP_116016.1	1	2	3	2.010022	Q9BWG4	SSBP4_HUMAN		5	596	+			Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	1	1	hg19	c.302C>A	CCDS12378.1	1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299588	0.40694	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	2.8	0.32819	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000002	T	0.74951	0.3784	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76022	-0.3111	9	0.54805	T	0.06	-2.5338	9.7153	0.40270	0.0:1.0:0.0:0.0	.	101;101	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	H	101	.	ENSP00000270061:P101H	P	+	2	0	0	SSBP4	18402673	18402673	0.998000	0.40836	0.656000	0.29637	0.081000	0.17604	4.604000	0.61112	1.523000	0.49018	0.561000	0.74099	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_032627			32	31		161	158	1		1	1		0	0	47	0		1	9.999999e-01	0	27	0	117	0	32	161
ISYNA1	51477	broad.mit.edu	37	19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	231					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GAAGCGCTCCGTGTTCGCCGT	0.627																																						ENST00000338128.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(691-693)aCg>aTg		inositol-3-phosphate synthase 1							103.0	93.0	96.0					19																	18547207		2203	4300	6503	SO:0001583	missense	51477	0	0					g.chr19:18547207G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.692C>T	chr19.hg19:g.18547207G>A	ENSP00000337746:p.Thr231Met	0					ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M	p.T231M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	1	2	3	2.010022	Q9NPH2	INO1_HUMAN		6	909	-			B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	1	1	hg19	c.692C>T	CCDS12379.1	1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980764	0.18812	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.88	2.83	0.33086	3.88	2.83	0.33086	NAD(P)-binding domain (1);	0.060310	0.64402	N	0.000005	D	0.86826	0.6026	H	0.98388	4.22	0.48975	D	0.999736	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	0.87914	0.2699	9	0.87932	D	0	-22.5749	9.041	0.36319	0.1123:0.0:0.8877:0.0	.	29;177;231;81	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	231;177;81;29	.	ENSP00000315147:T29M	T	-	2	0	0	ISYNA1	18408207	18408207	1.000000	0.71417	0.573000	0.28510	0.227000	0.25037	5.807000	0.69157	0.970000	0.38263	0.457000	0.33378	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	0	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_016368			97	97		421	414	1		1	1		0	0	94	0		1	9.999872e-01	0	9	0	63	0	97	421
ELL	8178	broad.mit.edu	37	19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Missense_Mutation_p.Q443H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	576					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)			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)		TTCGATATTCCTGCAAAATCT	0.512			T	MLL	AL																																	ENST00000262809.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.1	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)				L	L	MLL		AL		0				19						c.(1726-1728)caG>caT		elongation factor RNA polymerase II							199.0	209.0	206.0					19																	18556055		2203	4300	6503	SO:0001583	missense	8178	0	0					g.chr19:18556055C>A	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.1728G>T	chr19.hg19:g.18556055C>A	ENSP00000262809:p.Gln576His	0					ELL_ENST00000596124.3_Missense_Mutation_p.Q443H|CTD-3137H5.1_ENST00000594590.2_RNA	p.Q576H	NM_006532.3	NP_006523.1	1	2	3	2.010022	P55199	ELL_HUMAN		11	1799	-				Missense_Mutation	SNP	ENST00000262809.4	1	1	hg19	c.1728G>T	CCDS12380.1	1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709318	0.48517	.	.	ENSG00000105656	ENST00000262809	T	0.22945	1.93	3.79	2.74	0.32292	3.79	2.74	0.32292	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.154328	0.44285	U	0.000462	T	0.44244	0.1284	M	0.65498	2.005	0.45946	D	0.998776	D;D	0.76494	0.997;0.999	D;D	0.72982	0.968;0.979	T	0.37572	-0.9700	10	0.72032	D	0.01	-23.2441	9.261	0.37612	0.0:0.8105:0.0:0.1895	.	520;576	Q59HG4;P55199	.;ELL_HUMAN	H	576	ENSP00000262809:Q576H	ENSP00000262809:Q576H	Q	-	3	2	2	ELL	18417055	18417055	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	0.592000	0.23984	0.952000	0.37798	0.282000	0.19409	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	1	0	1		2	2	2	0		0	0	378		378	376	1	2.060000	-20.000000	1	0.170000	NM_006532			290	286		1387	1354	1		1	1		0	0	378	0		1	9.999605e-01	0	11	0	58	0	290	1387
FKBP8	23770	broad.mit.edu	37	19	18648447	18648447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000596558.2	-	6	1015	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000608443.1_Silent_p.Q303Q|FKBP8_ENST00000597960.3_Silent_p.Q303Q|FKBP8_ENST00000222308.4_Silent_p.Q302Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	302					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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637																																						ENST00000596558.2	1.000000	0.610000	1	7.800000e-01	0.980000	0.914617	0.980000	1.000000																										0				15						c.(904-906)caG>caA		FK506 binding protein 8, 38kDa							62.0	50.0	54.0					19																	18648447		2203	4300	6503	SO:0001819	synonymous_variant	23770	0	0					g.chr19:18648447C>T	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.906G>A	chr19.hg19:g.18648447C>T		0					FKBP8_ENST00000222308.4_Silent_p.Q302Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000608443.1_Silent_p.Q303Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q|FKBP8_ENST00000597960.3_Silent_p.Q303Q|AC005387.2_ENST00000596596.1_RNA	p.Q302Q			1	2	3	2.010022	Q14318	FKBP8_HUMAN		6	1015	-			C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	1	1	hg19	c.906G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_012181			20	19		228	225	0		1	1		0	0	42	0		9.999955e-01	1	0	123	0	908	0	20	228
CRLF1	9244	broad.mit.edu	37	19	18710412	18710412	+	Silent	SNP	G	G	A	rs562764303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	120	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16829	0.001		0.0	False		,,,				2504	0.0					ENST00000392386.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(358-360)gaC>gaT		cytokine receptor-like factor 1							34.0	35.0	34.0					19																	18710412		2202	4300	6502	SO:0001819	synonymous_variant	9244	4	121392	36				g.chr19:18710412G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.360C>T	chr19.hg19:g.18710412G>A		0						p.D120D	NM_004750.4	NP_004741.1	1	2	3	2.010022	O75462	CRLF1_HUMAN		2	553	-			Q9UHH5	Silent	SNP	ENST00000392386.3	1	1	hg19	c.360C>T	CCDS32962.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	1	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				67	65		219	212	0		1	0		0	0	45	0		1	9.132668e-01	0	0	0	16	0	67	219
CRLF1	9244	broad.mit.edu	37	19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	118	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657																																						ENST00000392386.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(352-354)Gcc>Acc		cytokine receptor-like factor 1							34.0	34.0	34.0					19																	18710420		2202	4300	6502	SO:0001583	missense	9244	0	0					g.chr19:18710420C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.352G>A	chr19.hg19:g.18710420C>T	ENSP00000376188:p.Ala118Thr	0						p.A118T	NM_004750.4	NP_004741.1	1	2	3	2.010022	O75462	CRLF1_HUMAN		2	545	-			Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	1	1	hg19	c.352G>A	CCDS32962.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459657	0.43736	.	.	ENSG00000006016	ENST00000392386	D	0.85629	-2.01	5.23	4.2	0.49525	5.23	4.2	0.49525	Immunoglobulin-like fold (1);	0.227351	0.45126	D	0.000381	T	0.67135	0.2861	N	0.14661	0.345	0.29291	N	0.869344	P	0.35226	0.491	B	0.25405	0.06	T	0.62263	-0.6891	10	0.23302	T	0.38	-32.249	9.2979	0.37827	0.0:0.8439:0.0:0.1561	.	118	O75462	CRLF1_HUMAN	T	118	ENSP00000376188:A118T	ENSP00000376188:A118T	A	-	1	0	0	CRLF1	18571420	18571420	0.865000	0.29922	0.862000	0.33874	0.611000	0.37282	1.167000	0.31847	2.449000	0.82847	0.511000	0.50034	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	1	0	0		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000				56	52		213	208	1		1	0		0	0	48	0		1	8.930550e-01	0	0	0	17	0	56	213
TMEM59L	25789	broad.mit.edu	37	19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	71						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTATGACAGAGCCGTTCTGAT	0.662																																						ENST00000600490.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(211-213)Gcc>Acc		transmembrane protein 59-like							43.0	50.0	47.0					19																	18724721		2203	4300	6503	SO:0001583	missense	25789	0	0					g.chr19:18724721G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.211G>A	chr19.hg19:g.18724721G>A	ENSP00000470879:p.Ala71Thr	0					TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T	p.A71T			1	2	3	2.010022	Q9UK28	TM59L_HUMAN		3	396	+				Missense_Mutation	SNP	ENST00000600490.1	1	1	hg19	c.211G>A	CCDS12383.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000105696	ENST00000262817	T	0.46451	0.87	4.14	4.14	0.48551	4.14	4.14	0.48551	.	0.124651	0.56097	D	0.000022	T	0.48095	0.1481	L	0.54323	1.7	0.29756	N	0.835919	D	0.63880	0.993	P	0.55508	0.777	T	0.48387	-0.9040	10	0.48119	T	0.1	-21.1015	8.338	0.32225	0.1127:0.0:0.8873:0.0	.	71	Q9UK28	TM59L_HUMAN	T	71	ENSP00000262817:A71T	ENSP00000262817:A71T	A	+	1	0	0	TMEM59L	18585721	18585721	0.608000	0.26966	0.124000	0.21820	0.030000	0.12068	2.480000	0.45206	1.997000	0.58415	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				93	92		466	463	0		1	0		0	0	85	0		1	2.802360e-02	0	0	0	2	0	93	466
TMEM59L	25789	broad.mit.edu	37	19	18731268	18731268	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18731268C>A	ENST00000600490.1	+	9	1136	c.951C>A	c.(949-951)ccC>ccA	p.P317P	TMEM59L_ENST00000262817.3_Silent_p.P317P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	317						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCGATTGGCCCCTGTACCCGC	0.647																																						ENST00000600490.1	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.393353	0.330000	0.320000																										0				13						c.(949-951)ccC>ccA		transmembrane protein 59-like							75.0	68.0	71.0					19																	18731268		2203	4300	6503	SO:0001819	synonymous_variant	25789	0	0					g.chr19:18731268C>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.951C>A	chr19.hg19:g.18731268C>A		0					TMEM59L_ENST00000262817.3_Silent_p.P317P	p.P317P			1	2	3	2.010022	Q9UK28	TM59L_HUMAN		9	1136	+				Silent	SNP	ENST00000600490.1	1	1	hg19	c.951C>A	CCDS12383.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.350320	1	0.170000				12	12		435	421	0		1	0		0	0	86	0		9.989567e-01	5.520606e-02	0	0	0	13	0	12	435
KLHL26	55295	broad.mit.edu	37	19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687																																						ENST00000300976.4	1.000000	0.340000	7.700000e-01	4.400000e-01	0.570000	0.613068	0.570000	0.550000																										0				17						c.(694-696)cGc>cAc		kelch-like family member 26							23.0	24.0	24.0					19																	18778902		2199	4296	6495	SO:0001583	missense	55295	2	120744	35				g.chr19:18778902G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.695G>A	chr19.hg19:g.18778902G>A	ENSP00000300976:p.Arg232His	0					KLHL26_ENST00000599006.1_Intron	p.R232H	NM_018316.1	NP_060786.1	1	2	3	2.010022	Q53HC5	KLH26_HUMAN		3	785	+			Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	1	1	hg19	c.695G>A	CCDS12384.1	0	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712884	0.89112	.	.	ENSG00000167487	ENST00000300976	T	0.69926	-0.44	5.04	5.04	0.67666	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86740	2.835	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.81972	-0.0688	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	232	Q53HC5	KLH26_HUMAN	H	232	ENSP00000300976:R232H	.	R	+	2	0	0	KLHL26	18639902	18639902	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.734000	0.84928	2.341000	0.79615	0.591000	0.81541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.891621	1	0.170000	NM_018316			17	16		345	340	0		1	0		0	0	55	0		9.999628e-01	8.669291e-02	0	0	0	10	0	17	345
KLHL26	55295	broad.mit.edu	37	19	18779809	18779809	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677																																						ENST00000300976.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1600-1602)ccG>ccA		kelch-like family member 26							48.0	47.0	47.0					19																	18779809		2203	4298	6501	SO:0001819	synonymous_variant	55295	0	0					g.chr19:18779809G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1602G>A	chr19.hg19:g.18779809G>A		0					KLHL26_ENST00000599006.1_Intron	p.P534P	NM_018316.1	NP_060786.1	1	2	3	2.010022	Q53HC5	KLH26_HUMAN		3	1692	+			Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	0	1	hg19	c.1602G>A	CCDS12384.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	0	0	1		20	4	2	1		1	1	69		69	68	1	2.060000	-2.880997	1	0.170000	NM_018316			64	61		366	363	1		1	1		1	0	69	0		9.999999e-01	8.468643e-01	0	7	0	32	0	64	366
CRTC1	23373	broad.mit.edu	37	19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000321949.8	+	12	1509	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Missense_Mutation_p.A511T|CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCAGATGGCGGCCAGGCAGGC	0.677																																						ENST00000321949.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									CRTC1/MAML2(516)	0				19						c.(1483-1485)Gcc>Acc		CREB regulated transcription coactivator 1							89.0	74.0	79.0					19																	18885767		2203	4300	6503	SO:0001583	missense	23373	0	0					g.chr19:18885767G>A	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1483G>A	chr19.hg19:g.18885767G>A	ENSP00000323332:p.Ala495Thr	0					CRTC1_ENST00000338797.6_Missense_Mutation_p.A511T|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T	p.A495T	NM_015321.2	NP_056136.2	1	2	3	2.010022				12	1509	+				Missense_Mutation	SNP	ENST00000321949.8	1	1	hg19	c.1483G>A	CCDS32963.1	1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162800	0.38217	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	3.28	3.28	0.37604	3.28	3.28	0.37604	.	0.523530	0.18511	N	0.139060	T	0.13841	0.0335	L	0.36672	1.1	0.41486	D	0.988191	P;B	0.49090	0.919;0.434	B;B	0.40825	0.341;0.085	T	0.13495	-1.0507	10	0.22109	T	0.4	-19.0374	13.6832	0.62499	0.0:0.0:1.0:0.0	.	511;495	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	511;495	ENSP00000345001:A511T;ENSP00000323332:A495T	ENSP00000323332:A495T	A	+	1	0	0	CRTC1	18746767	18746767	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	5.232000	0.65332	1.679000	0.50963	0.313000	0.20887	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.853622	1	0.170000	NM_025021			76	76		285	276	1		1	1		0	0	75	0		1	9.976995e-01	0	7	0	30	0	76	285
CRTC1	23373	broad.mit.edu	37	19	18888081	18888081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000321949.8	+	14	1820	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000338797.6_Silent_p.D614D|CRTC1_ENST00000594658.1_Silent_p.D557D	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTCCCCTGGACGAACTCAAGA	0.632																																						ENST00000321949.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									CRTC1/MAML2(516)	0				19						c.(1792-1794)gaC>gaT		CREB regulated transcription coactivator 1							178.0	189.0	185.0					19																	18888081		2203	4300	6503	SO:0001819	synonymous_variant	23373	1	121408	35				g.chr19:18888081C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1794C>T	chr19.hg19:g.18888081C>T		0					CRTC1_ENST00000338797.6_Silent_p.D614D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000594658.1_Silent_p.D557D	p.D598D	NM_015321.2	NP_056136.2	1	2	3	2.010022				14	1820	+				Silent	SNP	ENST00000321949.8	1	1	hg19	c.1794C>T	CCDS32963.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	0	0	0		17	2	2	1		1	1	402		402	398	1	2.060000	-20.000000	1	0.170000	NM_025021			351	347		1551	1526	0		1	1		1	0	402	0		1	9.956210e-01	0	6	0	32	0	351	1551
COMP	1311	broad.mit.edu	37	19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000222271.2	-	18	2205	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	COMP_ENST00000425807.1_Missense_Mutation_p.R668C|COMP_ENST00000542601.2_Missense_Mutation_p.R688C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCCAGGCGGCCACCCCGC	0.652																																						ENST00000222271.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2161-2163)Cgc>Tgc		cartilage oligomeric matrix protein							47.0	48.0	47.0					19																	18893930		2203	4300	6503	SO:0001583	missense	1311	2	121406	35				g.chr19:18893930G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.2161C>T	chr19.hg19:g.18893930G>A	ENSP00000222271:p.Arg721Cys	0					COMP_ENST00000542601.2_Missense_Mutation_p.R688C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C	p.R721C	NM_000095.2	NP_000086.2	1	2	3	2.010022	P49747	COMP_HUMAN		18	2205	-			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	1	1	hg19	c.2161C>T	CCDS12385.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102624	0.76983	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97378	-4.36;-4.36;-4.36	4.61	4.61	0.57282	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	U	0.000003	D	0.98692	0.9561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	-32.7372	15.9884	0.80179	0.0:0.0:1.0:0.0	.	668;721	B4DKJ3;P49747	.;COMP_HUMAN	C	688;721;668;708	ENSP00000439156:R688C;ENSP00000222271:R721C;ENSP00000403792:R668C	ENSP00000222271:R721C	R	-	1	0	0	COMP	18754930	18754930	1.000000	0.71417	0.855000	0.33649	0.811000	0.45836	5.325000	0.65869	2.120000	0.65058	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.233459	1	0.170000	NM_000095			49	46		227	225	1		1	1		0	0	41	0		1	1	0	2	0	1282	0	49	227
COMP	1311	broad.mit.edu	37	19	18901372	18901372	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000222271.2	-	3	260	c.216C>T	c.(214-216)tgC>tgT	p.C72C	COMP_ENST00000425807.1_Splice_Site_p.C72C|COMP_ENST00000542601.2_Splice_Site_p.C39C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	72	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCGCACGCGTCAC	0.612																																						ENST00000222271.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(214-216)tgC>tgT		cartilage oligomeric matrix protein							196.0	209.0	204.0					19																	18901372		2203	4300	6503	SO:0001630	splice_region_variant	1311	0	0					g.chr19:18901372G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.217+1C>T	chr19.hg19:g.18901372G>A		0					COMP_ENST00000542601.2_Splice_Site_p.C39C|COMP_ENST00000425807.1_Splice_Site_p.C72C	p.C72C	NM_000095.2	NP_000086.2	1	2	3	2.010022	P49747	COMP_HUMAN		3	260	-			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Splice_Site	SNP	ENST00000222271.2	1	0	hg19	c.216C>T	CCDS12385.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	0		2	2	2	0		0	0	384		384	380	1	2.060000	-20.000000	1	0.170000	NM_000095	Silent		309	297		1619	1570	0		1	0		0	0	384	0		1	1	0	0	0	491	0	309	1619
COMP	1311	broad.mit.edu	37	19	18901411	18901411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000222271.2	-	3	221	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_ENST00000425807.1_Silent_p.I59I|COMP_ENST00000542601.2_Silent_p.I26I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.I59I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622																																						ENST00000222271.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I59I(1)	kidney(1)	32						c.(175-177)atC>atT		cartilage oligomeric matrix protein							181.0	189.0	186.0					19																	18901411		2203	4300	6503	SO:0001819	synonymous_variant	1311	0	0					g.chr19:18901411G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.177C>T	chr19.hg19:g.18901411G>A		0					COMP_ENST00000542601.2_Silent_p.I26I|COMP_ENST00000425807.1_Silent_p.I59I	p.I59I	NM_000095.2	NP_000086.2	1	2	3	2.010022	P49747	COMP_HUMAN		3	221	-			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	1	1	hg19	c.177C>T	CCDS12385.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	0		2	2	2	0		0	0	306		306	302	1	2.060000	-20.000000	1	0.170000	NM_000095			260	253		1353	1300	0		1	0		0	0	306	0		1	1	0	1	0	641	0	260	1353
CERS1	10715	broad.mit.edu	37	19	18990128	18990128	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18990128C>A	ENST00000427170.2	-	5	893	c.822G>T	c.(820-822)acG>acT	p.T274T	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Silent_p.T274T|CERS1_ENST00000542296.2_Silent_p.T176T|AC005197.2_ENST00000597769.1_RNA	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	274	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|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)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						TGTCAGGCACCGTGCGCAGAC	0.602																																						ENST00000427170.2	1.000000	0.480000	1	7.300000e-01	0.990000	0.905424	0.990000	1.000000																										0				5						c.(820-822)acG>acT		ceramide synthase 1							83.0	104.0	97.0					19																	18990128		2169	4272	6441	SO:0001819	synonymous_variant	10715	0	0					g.chr19:18990128C>A	AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.822G>T	chr19.hg19:g.18990128C>A		0					CERS1_ENST00000429504.2_Silent_p.T274T|CERS1_ENST00000542296.2_Silent_p.T176T|AC005197.2_ENST00000597769.1_RNA|GDF1_ENST00000247005.6_5'UTR	p.T274T	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	1	2	3	2.010022	P27544	CERS1_HUMAN		5	893	-				Silent	SNP	ENST00000427170.2	0	1	hg19	c.822G>T	CCDS46020.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-3.225040	1	0.170000				7	7		74	74	0		1	0		0	0	20	0		9.822118e-01	3.562586e-01	0	1	0	12	0	7	74
ARMC6	93436	broad.mit.edu	37	19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000535612.1	+	5	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597																																						ENST00000535612.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				14						c.(688-690)aCc>aTc		armadillo repeat containing 6							91.0	55.0	67.0					19																	19162840		2203	4300	6503	SO:0001583	missense	93436	11	121412	40				g.chr19:19162840C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.689C>T	chr19.hg19:g.19162840C>T	ENSP00000444156:p.Thr230Ile	0					ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I	p.T230I	NM_001199196.1	NP_001186125.1	1	2	3	2.010022	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)	5	1121	+			B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	1	1	hg19	c.689C>T	CCDS56089.1	1	.	.	.	.	.	.	.	.	.	.	C	3.571	-0.087560	0.07097	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.32	-1.02	0.10135	5.32	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.818936	0.11528	N	0.554983	T	0.51669	0.1688	L	0.36672	1.1	0.09310	N	1	B	0.34181	0.44	B	0.27170	0.077	T	0.35126	-0.9801	10	0.38643	T	0.18	-2.7493	5.6963	0.17857	0.1775:0.4361:0.0:0.3864	.	230	Q6NXE6	ARMC6_HUMAN	I	205;230;205;205;137;205;137;141;141;230	ENSP00000376147:T205I;ENSP00000444156:T230I;ENSP00000441948:T205I;ENSP00000269932:T205I;ENSP00000444341:T137I;ENSP00000446037:T205I;ENSP00000437580:T137I;ENSP00000376148:T230I	ENSP00000269932:T205I	T	+	2	0	0	ARMC6	19023840	19023840	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.010000	0.14839	-0.254000	0.11334	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_033415			37	36		200	190	1		1	1		0	0	48	0		1	9.999028e-01	0	24	0	55	0	37	200
ARMC6	93436	broad.mit.edu	37	19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000535612.1	+	7	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	379					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587																																						ENST00000535612.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1135-1137)caG>caT		armadillo repeat containing 6							90.0	71.0	77.0					19																	19166187		2203	4300	6503	SO:0001583	missense	93436	0	0					g.chr19:19166187G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1137G>T	chr19.hg19:g.19166187G>T	ENSP00000444156:p.Gln379His	0					ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H	p.Q379H	NM_001199196.1	NP_001186125.1	1	2	3	2.010022	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)	7	1569	+			B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	1	1	hg19	c.1137G>T	CCDS56089.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.215|9.215	1.031972|1.031972	0.19590|0.19590	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53;1.52	4.88|4.88	1.1|1.1	0.20463|0.20463	4.88|4.88	1.1|1.1	0.20463|0.20463	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.458981	.|0.21457	.|N	.|0.074236	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.12182|0.12182	0.205|0.205	0.31551|0.31551	N|N	0.658778|0.658778	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.05869|0.05869	-1.0859|-1.0859	5|10	.|0.37606	.|T	.|0.19	-12.8714|-12.8714	2.6774|2.6774	0.05084|0.05084	0.1647:0.3823:0.3175:0.1356|0.1647:0.3823:0.3175:0.1356	.|.	.|379	.|Q6NXE6	.|ARMC6_HUMAN	S|H	69;43|354;379;354;286;290;379	.|ENSP00000376147:Q354H;ENSP00000444156:Q379H;ENSP00000269932:Q354H;ENSP00000444341:Q286H;ENSP00000376148:Q379H	.|ENSP00000269932:Q354H	A|Q	+|+	1|3	0|2	0|2	ARMC6|ARMC6	19027187|19027187	19027187|19027187	0.028000|0.028000	0.19301|0.19301	0.991000|0.991000	0.47740|0.47740	0.340000|0.340000	0.28889|0.28889	-0.470000|-0.470000	0.06639|0.06639	0.994000|0.994000	0.38892|0.38892	0.563000|0.563000	0.77884|0.77884	GCA|CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_033415			64	62		253	249	1		1	1		0	0	45	0		1	9.999993e-01	0	29	0	57	0	64	253
ARMC6	93436	broad.mit.edu	37	19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T	rs200832309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000535612.1	+	8	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	406					hematopoietic progenitor cell differentiation (GO:0002244)			p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		16291	0.002		0.0	False		,,,				2504	0.0					ENST00000535612.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R381S(1)|p.R406S(1)	lung(2)	14						c.(1216-1218)Cgc>Tgc		armadillo repeat containing 6							56.0	61.0	60.0					19																	19166660		2202	4297	6499	SO:0001583	missense	93436	7	121388	41				g.chr19:19166660C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1216C>T	chr19.hg19:g.19166660C>T	ENSP00000444156:p.Arg406Cys	0					ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C	p.R406C	NM_001199196.1	NP_001186125.1	1	2	3	2.010022	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)	8	1648	+			B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	1	1	hg19	c.1216C>T	CCDS56089.1	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	16.00|16.00	2.998589|2.998589	0.54147|0.54147	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72	5.24|5.24	4.14|4.14	0.48551|0.48551	5.24|5.24	4.14|4.14	0.48551|0.48551	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320112	.|0.32218	.|N	.|0.006406	T|T	0.57403|0.57403	0.2051|0.2051	M|M	0.61703|0.61703	1.905|1.905	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.89917	.|1.0	.|P	.|0.57324	.|0.818	T|T	0.59721|0.59721	-0.7401|-0.7401	5|10	.|0.56958	.|D	.|0.05	-30.9653|-30.9653	10.9243|10.9243	0.47182|0.47182	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	.|406	.|Q6NXE6	.|ARMC6_HUMAN	L|C	69|381;406;381;313;317;406	.|ENSP00000376147:R381C;ENSP00000444156:R406C;ENSP00000269932:R381C;ENSP00000444341:R313C;ENSP00000376148:R406C	.|ENSP00000269932:R381C	P|R	+|+	2|1	0|0	0|0	ARMC6|ARMC6	19027660|19027660	19027660|19027660	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.071000|0.071000	0.16799|0.16799	3.241000|3.241000	0.51376|0.51376	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CCG|CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	0	0	1		2	2	2	0		0	0	134		134	129	1	2.060000	-3.019679	1	0.170000	NM_033415			144	143		601	583	1		1	1		0	0	134	0		1	9.999993e-01	0	29	0	55	0	144	601
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392335.2_Silent_p.A453A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672																																						ENST00000535612.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1432-1434)gcC>gcT		armadillo repeat containing 6							58.0	57.0	57.0					19																	19168365		2203	4299	6502	SO:0001819	synonymous_variant	93436	0	0					g.chr19:19168365C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1434C>T	chr19.hg19:g.19168365C>T		0					ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A	p.A478A	NM_001199196.1	NP_001186125.1	1	2	3	2.010022	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)	9	1866	+			B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	1	1	hg19	c.1434C>T	CCDS56089.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	0|0	ARMC6|ARMC6	19029365|19029365	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.570476	1	0.170000	NM_033415			77	77		316	313	1		1	1		0	0	65	0		1	9.999999e-01	0	34	0	65	0	77	316
SLC25A42	284439	broad.mit.edu	37	19	19221530	19221530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	ENST00000318596.7	+	8	953	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	268					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGCCTCCATCGCCCGCACGCT	0.711																																						ENST00000318596.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(802-804)Gcc>Acc		solute carrier family 25, member 42							14.0	13.0	13.0					19																	19221530		2181	4260	6441	SO:0001583	missense	284439	0	0					g.chr19:19221530G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.802G>A	chr19.hg19:g.19221530G>A	ENSP00000326693:p.Ala268Thr	0						p.A268T	NM_178526.4	NP_848621.2	1	2	3	2.010022	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)	8	953	+			D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	0	1	hg19	c.802G>A	CCDS32966.1	1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101014	0.20552	.	.	ENSG00000181035	ENST00000318596	T	0.79352	-1.26	4.92	-5.18	0.02840	4.92	-5.18	0.02840	Mitochondrial carrier domain (2);	1.297250	0.05156	N	0.496932	T	0.49626	0.1568	N	0.05230	-0.09	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.16896	T	0.51	-10.0741	3.8853	0.09096	0.3208:0.4395:0.1469:0.0928	.	268	Q86VD7	S2542_HUMAN	T	268	ENSP00000326693:A268T	ENSP00000326693:A268T	A	+	1	0	0	SLC25A42	19082530	19082530	0.002000	0.14202	0.087000	0.20705	0.032000	0.12392	-0.126000	0.10563	-0.099000	0.12263	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	0	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_178526			25	25		80	79	0		1	0		0	0	23	0		9.999999e-01	1.485405e-01	0	0	0	3	0	25	80
RFXANK	8625	broad.mit.edu	37	19	19308954	19308954	+	Silent	SNP	C	C	T	rs368281475		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000456252.3_Silent_p.S137S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597																																						ENST00000303088.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(475-477)agC>agT		regulatory factor X-associated ankyrin-containing protein		C	,	2,4404	4.2+/-10.8	0,2,2201	81.0	87.0	85.0		477,408	-6.2	0.9	19		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RFXANK	NM_003721.2,NM_134440.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	159/261,136/238	19308954	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8625	5	121412	40				g.chr19:19308954C>T	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.477C>T	chr19.hg19:g.19308954C>T		0					RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000353145.1_Silent_p.S136S	p.S159S	NM_003721.2	NP_003712.1	1	2	3	2.010022	O14593	RFXK_HUMAN	Epithelial(12;0.00228)	7	951	+			O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	1	1	hg19	c.477C>T	CCDS12395.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_003721			145	143		624	603	1		1	1		0	0	145	0		1	1	0	42	0	119	0	145	624
NCAN	1463	broad.mit.edu	37	19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	907					axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCAGGTGGAGACCCAGGGAAC	0.622																																						ENST00000252575.6	1.000000	0.230000	5.000000e-01	2.900000e-01	0.380000	0.432297	0.380000	0.360000																										0				64						c.(2719-2721)Acc>Gcc		neurocan	Hyaluronan(DB08818)						86.0	88.0	87.0					19																	19339148		2203	4300	6503	SO:0001583	missense	1463	0	0					g.chr19:19339148A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2719A>G	chr19.hg19:g.19339148A>G	ENSP00000252575:p.Thr907Ala	0					NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	p.T907A	NM_004386.2	NP_004377.2	1	2	3	2.010022	O14594	NCAN_HUMAN	Epithelial(12;0.00544)	8	2818	+			Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	1	1	hg19	c.2719A>G	CCDS12397.1	0	.	.	.	.	.	.	.	.	.	.	A	7.693	0.691540	0.15039	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84516	-1.71;-1.86	3.49	-0.261	0.12963	3.49	-0.261	0.12963	.	0.996046	0.08127	N	0.993839	T	0.66366	0.2782	N	0.12746	0.255	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.08055	0.003;0.001	T	0.51252	-0.8729	10	0.07175	T	0.84	.	5.8932	0.18925	0.5843:0.0:0.4157:0.0	.	921;907	Q4LE67;O14594	.;NCAN_HUMAN	A	921;907;358	ENSP00000252575:T907A;ENSP00000442202:T358A	ENSP00000252575:T907A	T	+	1	0	0	NCAN	19200148	19200148	0.003000	0.15002	0.335000	0.25508	0.385000	0.30292	0.082000	0.14847	-0.038000	0.13624	-0.415000	0.06103	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	0	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-17.082460	1	0.170000	NM_004386			20	20		625	616	0		1			0	0	136	0		9.999945e-01	0	0	0	0	0	0	20	625
NCAN	1463	broad.mit.edu	37	19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D|RNU6-1028P_ENST00000517164.1_RNA	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1037	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGTGATCAGGGCTTCGCCGGG	0.517																																						ENST00000252575.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3109-3111)gGc>gAc		neurocan	Hyaluronan(DB08818)						146.0	110.0	122.0					19																	19344688		2203	4300	6503	SO:0001583	missense	1463	0	0					g.chr19:19344688G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3110G>A	chr19.hg19:g.19344688G>A	ENSP00000252575:p.Gly1037Asp	0					NCAN_ENST00000538881.1_Missense_Mutation_p.G488D|RNU6-1028P_ENST00000517164.1_RNA	p.G1037D	NM_004386.2	NP_004377.2	1	2	3	2.010022	O14594	NCAN_HUMAN	Epithelial(12;0.00544)	9	3209	+			Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	1	1	hg19	c.3110G>A	CCDS12397.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443611	0.83993	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98192	-3.78;-4.78	4.73	4.73	0.59995	4.73	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38720	N	0.001585	D	0.98924	0.9635	M	0.86178	2.8	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:1.0:0.0	.	1051;1037	Q4LE67;O14594	.;NCAN_HUMAN	D	1051;1037;488	ENSP00000252575:G1037D;ENSP00000442202:G488D	ENSP00000252575:G1037D	G	+	2	0	0	NCAN	19205688	19205688	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	8.872000	0.92352	2.627000	0.88993	0.563000	0.77884	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_004386			63	60		280	276	1		1	0		0	0	77	0		1	0	0	0	0	1	0	63	280
NCAN	1463	broad.mit.edu	37	19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AAACACGTGGATCGGCCTGAA	0.632																																						ENST00000252575.6	1.000000	0.730000	1	8.700000e-01	0.990000	0.956822	0.990000	1.000000																										0				64						c.(3433-3435)Atc>Gtc		neurocan	Hyaluronan(DB08818)						146.0	104.0	119.0					19																	19351435		2203	4300	6503	SO:0001583	missense	1463	0	0					g.chr19:19351435A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3433A>G	chr19.hg19:g.19351435A>G	ENSP00000252575:p.Ile1145Val	0					NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	p.I1145V	NM_004386.2	NP_004377.2	1	2	3	2.010022	O14594	NCAN_HUMAN	Epithelial(12;0.00544)	12	3532	+			Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	1	1	hg19	c.3433A>G	CCDS12397.1	1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.487349	0.63962	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.28255	1.62;1.62	3.98	2.93	0.34026	3.98	2.93	0.34026	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289221	0.19360	N	0.116172	T	0.41050	0.1142	M	0.86178	2.8	0.39059	D	0.960496	B	0.33171	0.4	B	0.39465	0.3	T	0.38929	-0.9638	10	0.56958	D	0.05	.	8.5633	0.33525	0.8046:0.1953:0.0:0.0	.	1145	O14594	NCAN_HUMAN	V	1159;1145;596	ENSP00000252575:I1145V;ENSP00000442202:I596V	ENSP00000252575:I1145V	I	+	1	0	0	NCAN	19212435	19212435	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.913000	0.75759	0.557000	0.29117	0.240000	0.17902	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	1	0	1		2	2	2	0		0	0	90		90	86	1	2.060000	-20.000000	1	0.170000	NM_004386			32	31		335	331	0		1			0	0	90	0		1	0	0	0	0	0	0	32	335
GATAD2A	54815	broad.mit.edu	37	19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000360315.3	+	8	1336	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000404158.1_Missense_Mutation_p.A342T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	342	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGAGTCTCCAGCAAGCCGACA	0.647																																						ENST00000360315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1024-1026)Gca>Aca		GATA zinc finger domain containing 2A							32.0	37.0	35.0					19																	19609351		2203	4299	6502	SO:0001583	missense	54815	0	0					g.chr19:19609351G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1024G>A	chr19.hg19:g.19609351G>A	ENSP00000353463:p.Ala342Thr	0					GATAD2A_ENST00000404158.1_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T	p.A342T	NM_017660.3	NP_060130.3	1	2	3	2.010022	Q86YP4	P66A_HUMAN		8	1336	+			B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	1	1	hg19	c.1024G>A	CCDS12402.2	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472267	0.84533	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.58210	0.98;0.86;0.98;0.35	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.74290	-0.3713	9	.	.	.	-12.9224	18.3542	0.90351	0.0:0.0:1.0:0.0	.	169;361;342	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	342;342;361;342;169	ENSP00000353463:A342T;ENSP00000252577:A342T;ENSP00000351552:A342T;ENSP00000388416:A169T	.	A	+	1	0	0	GATAD2A	19470351	19470351	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.775000	0.98995	2.691000	0.91804	0.650000	0.86243	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	1	0	1		2	2	2	0		0	0	61		61	57	1	2.060000	-20.000000	1	0.170000	NM_017660			70	66		226	213	1		1	1		0	0	61	0		1	1	0	48	0	117	0	70	226
GATAD2A	54815	broad.mit.edu	37	19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A	rs200840328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000360315.3	+	11	2035	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S	GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000404158.1_Missense_Mutation_p.G576S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	575					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGTGAGCGCCGGCAAGGGCAG	0.642																																						ENST00000360315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1723-1725)Ggc>Agc		GATA zinc finger domain containing 2A		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	66.0	74.0	71.0		1723	-2.3	0.0	19		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GATAD2A	NM_017660.3	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	575/634	19613287	2,13004	2203	4300	6503	SO:0001583	missense	54815	89	121396	53				g.chr19:19613287G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1723G>A	chr19.hg19:g.19613287G>A	ENSP00000353463:p.Gly575Ser	0					GATAD2A_ENST00000404158.1_Missense_Mutation_p.G576S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S	p.G575S	NM_017660.3	NP_060130.3	1	2	3	2.010022	Q86YP4	P66A_HUMAN		11	2035	+			B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	1	1	hg19	c.1723G>A	CCDS12402.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.707|2.707	-0.269549|-0.269549	0.05716|0.05716	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.42513|.	1.53;1.56;1.53;0.97|.	5.04|5.04	-2.26|-2.26	0.06867|0.06867	5.04|5.04	-2.26|-2.26	0.06867|0.06867	.|.	0.569617|.	0.19591|.	N|.	0.110628|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.99992|0.99992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.22109|.	T|.	0.4|.	-5.3751|-5.3751	9.6909|9.6909	0.40127|0.40127	0.5268:0.0:0.4732:0.0|0.5268:0.0:0.4732:0.0	.|.	378;595;575|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	S|Q	575;550;204;595;575;378|176	ENSP00000353463:G575S;ENSP00000252577:G550S;ENSP00000351552:G575S;ENSP00000388416:G378S|.	ENSP00000252577:G550S|.	G|R	+|+	1|2	0|0	0|0	GATAD2A|GATAD2A	19474287|19474287	19474287|19474287	0.037000|0.037000	0.19845|0.19845	0.047000|0.047000	0.18901|0.18901	0.125000|0.125000	0.20455|0.20455	0.302000|0.302000	0.19192|0.19192	-0.142000|-0.142000	0.11354|0.11354	-0.143000|-0.143000	0.13931|0.13931	GGC|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	0	0	1		22	7	2	1		1	1	110		110	110	1	2.060000	-2.862493	1	0.170000	NM_017660			147	145		596	587	1		1	1		1	0	110	0		1	1	0	42	0	125	0	147	596
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000291495.5	+	2	188	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000586018.1_Missense_Mutation_p.G35S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667																																						ENST00000291495.5	1.000000	0.200000	4.200000e-01	2.500000e-01	0.320000	0.379091	0.320000	0.310000																										0				32						c.(103-105)Ggc>Agc		cartilage intermediate layer protein 2		G	SER/GLY	0,4406		0,0,2203	91.0	91.0	91.0		103	3.2	0.9	19	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	CILP2	NM_153221.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	35/1157	19650526	1,13005	2203	4300	6503	SO:0001583	missense	148113	3	121410	38				g.chr19:19650526G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.103G>A	chr19.hg19:g.19650526G>A	ENSP00000291495:p.Gly35Ser	0					CILP2_ENST00000586018.1_Missense_Mutation_p.G35S	p.G35S	NM_153221.2	NP_694953.2	1	2	3	2.010022	Q8IUL8	CILP2_HUMAN		2	188	+			Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	1	1	hg19	c.103G>A	CCDS12405.1	0	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958261	0.53400	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.52983	0.64	3.24	3.24	0.37175	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.26085	0.0636	N	0.14661	0.345	0.37661	D	0.922776	B;B	0.19331	0.012;0.035	B;B	0.11329	0.006;0.006	T	0.13335	-1.0513	10	0.13853	T	0.58	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	35	ENSP00000291495:G35S	ENSP00000291495:G35S	G	+	1	0	0	CILP2	19511526	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	0	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-2.844099	1	0.170000	NM_153221			23	23		848	812	0		1	0		0	0	133	0		9.999989e-01	7.407059e-03	0	0	0	5	0	23	848
CILP2	148113	broad.mit.edu	37	19	19655592	19655592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000291495.5	+	8	2323	c.2238C>T	c.(2236-2238)aaC>aaT	p.N746N	CILP2_ENST00000586018.1_Silent_p.N752N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	746						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACGCCAACGACAAGTTCA	0.687																																						ENST00000291495.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				32						c.(2236-2238)aaC>aaT		cartilage intermediate layer protein 2							17.0	19.0	19.0					19																	19655592		2192	4282	6474	SO:0001819	synonymous_variant	148113	1	120978	27				g.chr19:19655592C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2238C>T	chr19.hg19:g.19655592C>T		0					CILP2_ENST00000586018.1_Silent_p.N752N	p.N746N	NM_153221.2	NP_694953.2	1	2	3	2.010022	Q8IUL8	CILP2_HUMAN		8	2323	+			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	1	1	hg19	c.2238C>T	CCDS12405.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_153221			37	37		199	194	0		1	0		0	0	34	0		1	6.947716e-02	0	0	0	3	0	37	199
PBX4	80714	broad.mit.edu	37	19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	274					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522																																						ENST00000251203.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(820-822)aAg>aGg		pre-B-cell leukemia homeobox 4							337.0	342.0	341.0					19																	19675846		2203	4300	6503	SO:0001583	missense	80714	0	0					g.chr19:19675846T>C	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.821A>G	chr19.hg19:g.19675846T>C	ENSP00000251203:p.Lys274Arg	0						p.K274R	NM_025245.2	NP_079521.1	1	2	3	2.010022	Q9BYU1	PBX4_HUMAN		6	1107	-			A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	1	1	hg19	c.821A>G	CCDS12406.1	1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.170696	0.38315	.	.	ENSG00000105717	ENST00000251203	D	0.83591	-1.74	3.85	2.83	0.33086	3.85	2.83	0.33086	Homeodomain-related (1);Homeobox (1);	0.063396	0.64402	N	0.000008	D	0.88459	0.6442	M	0.78049	2.395	0.46564	D	0.999109	D	0.63880	0.993	D	0.72625	0.978	D	0.85733	0.1332	10	0.44086	T	0.13	-18.6076	7.4495	0.27229	0.0:0.1075:0.0:0.8925	.	274	Q9BYU1	PBX4_HUMAN	R	274	ENSP00000251203:K274R	ENSP00000251203:K274R	K	-	2	0	0	PBX4	19536846	19536846	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	3.159000	0.50731	0.566000	0.29273	-0.453000	0.05500	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6	1	0	1		2	2	2	0		0	0	318		318	314	1	2.060000	-20.000000	1	0.170000				375	368		1483	1462	1		1	1		0	0	318	0		1	9.191729e-01	0	8	0	11	0	375	1483
LPAR2	9170	broad.mit.edu	37	19	19737613	19737613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	ENST00000542587.1	-	5	1383	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000586703.1_Silent_p.L161L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	161					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGCAGCCCCAGGCCCAGGGCA	0.706																																						ENST00000542587.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(481-483)Ctg>Ttg		lysophosphatidic acid receptor 2							23.0	20.0	21.0					19																	19737613		2194	4294	6488	SO:0001819	synonymous_variant	9170	0	0					g.chr19:19737613G>A	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.481C>T	chr19.hg19:g.19737613G>A		0					LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000586703.1_Silent_p.L161L	p.L161L			1	2	3	2.010022	Q9HBW0	LPAR2_HUMAN		5	1383	-			O00543|O43431	Silent	SNP	ENST00000542587.1	1	1	hg19	c.481C>T	CCDS12407.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_004720			28	28		72	70	1		1	1		0	0	13	0		1	9.999916e-01	0	26	0	29	0	28	72
GMIP	51291	broad.mit.edu	37	19	19752634	19752634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19752634G>A	ENST00000203556.4	-	4	360	c.223C>T	c.(223-225)Cct>Tct	p.P75S	GMIP_ENST00000445806.2_Missense_Mutation_p.P75S|GMIP_ENST00000587238.1_Missense_Mutation_p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	75					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGGGTACAGGACCCTCTGGG	0.592																																						ENST00000203556.4	1.000000	0.180000	9.000000e-01	3.200000e-01	0.530000	0.579761	0.530000	1.000000																										0				24						c.(223-225)Cct>Tct		GEM interacting protein							25.0	25.0	25.0					19																	19752634		2203	4300	6503	SO:0001583	missense	51291	0	0					g.chr19:19752634G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.223C>T	chr19.hg19:g.19752634G>A	ENSP00000203556:p.Pro75Ser	0					GMIP_ENST00000587238.1_Missense_Mutation_p.P75S|GMIP_ENST00000445806.2_Missense_Mutation_p.P75S	p.P75S	NM_016573.2	NP_057657.2	1	2	3	2.010022	Q9P107	GMIP_HUMAN		4	360	-			A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	0	1	hg19	c.223C>T	CCDS12408.1	0	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709920	0.15239	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.28666	1.6;1.6	4.54	3.5	0.40072	4.54	3.5	0.40072	.	0.178990	0.27181	N	0.020545	T	0.24275	0.0588	L	0.47190	1.495	0.09310	N	1	B;B;B	0.32245	0.022;0.361;0.01	B;B;B	0.30646	0.016;0.118;0.016	T	0.13202	-1.0518	10	0.39692	T	0.17	-9.5134	8.2165	0.31514	0.1084:0.0:0.8916:0.0	.	75;75;75	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	75	ENSP00000203556:P75S;ENSP00000397075:P75S	ENSP00000203556:P75S	P	-	1	0	0	GMIP	19613634	19613634	0.265000	0.24102	0.053000	0.19242	0.458000	0.32498	1.855000	0.39378	1.126000	0.42016	0.561000	0.74099	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	0	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-7.403530	1	0.170000	NM_016573			4	4		97	92	0		1	1		0	0	17	0		8.794918e-01	5.968898e-01	0	5	0	40	0	4	97
ATP13A1	57130	broad.mit.edu	37	19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	292						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCATCTTCCGGATCTCCGAC	0.602																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998307	0.990000	1.000000																										0				29						c.(874-876)Cgg>Tgg		ATPase type 13A1																																				SO:0001583	missense	57130	4	121290	25				g.chr19:19767835G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.874C>T	chr19.hg19:g.19767835G>A	ENSP00000349877:p.Arg292Trp	0					ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W|ATP13A1_ENST00000496082.1_5'Flank	p.R292W	NM_020410.2	NP_065143.2	1	2	3	2.010022	Q9HD20	AT131_HUMAN		5	900	-			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	0	1	hg19	c.874C>T	CCDS32970.2	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132679	0.77662	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.89552	-2.53;-2.53	5.36	4.32	0.51571	5.36	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053509	0.64402	D	0.000001	D	0.96272	0.8784	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96452	0.9335	10	0.72032	D	0.01	-28.0434	11.1694	0.48563	0.0:0.0:0.6654:0.3346	.	292;174	Q9HD20;Q9HD20-2	AT131_HUMAN;.	W	174;292	ENSP00000291503:R174W;ENSP00000349877:R292W	ENSP00000291503:R174W	R	-	1	2	2	ATP13A1	19628835	19628835	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.171000	0.64996	1.253000	0.44018	0.563000	0.77884	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.840680	1	0.170000	NM_020410			11	9		51	50	1		1	1		0	0	12	0		9.984713e-01	9.997846e-01	0	12	0	69	0	11	51
ZNF101	94039	broad.mit.edu	37	19	19789533	19789533	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000444249.2_Splice_Site|ZNF101_ENST00000415784.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358																																						ENST00000592502.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e3-1		zinc finger protein 101							41.0	42.0	42.0					19																	19789533		2203	4300	6503	SO:0001630	splice_region_variant	94039	0	0					g.chr19:19789533A>C	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.131-1A>C	chr19.hg19:g.19789533A>C		0					ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site				1	2	3	2.010022	Q8IZC7	ZN101_HUMAN		3	240	+			C9JU83|Q0VDG9	Splice_Site	SNP	ENST00000592502.1	1	1	hg19		CCDS32971.1	1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720090	0.30503	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	.	.	.	0.235	0.235	0.15431	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3292	0.04231	0.5263:1.0E-4:1.0E-4:0.4736	.	.	.	.	.	-1	.	.	.	+	.	.	.	ZNF101	19650533	19650533	0.412000	0.25392	0.638000	0.29380	0.638000	0.38207	1.917000	0.39996	0.263000	0.21812	0.260000	0.18958	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_033204	Intron		42	42		159	156	1		1			0	0	30	0		1	0	0	0	0	0	0	42	159
ZNF101	94039	broad.mit.edu	37	19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527																																						ENST00000592502.1	1.000000	0.610000	1	7.400000e-01	0.900000	0.882868	0.900000	1.000000																										0				17						c.(391-393)Gag>Aag		zinc finger protein 101							101.0	84.0	90.0					19																	19790189		2203	4300	6503	SO:0001583	missense	94039	0	0					g.chr19:19790189G>A	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.391G>A	chr19.hg19:g.19790189G>A	ENSP00000468049:p.Glu131Lys	0					ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR	p.E131K			1	2	3	2.010022	Q8IZC7	ZN101_HUMAN		4	501	+			C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	1	1	hg19	c.391G>A	CCDS32971.1	1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812048	0.16537	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;3.36	0.235	0.235	0.15431	0.235	0.235	0.15431	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.38972	-0.9636	9	0.33141	T	0.24	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	131	Q8IZC7	ZN101_HUMAN	K	131;131;11	ENSP00000319716:E131K;ENSP00000400952:E11K	ENSP00000319716:E131K	E	+	1	0	0	ZNF101	19651189	19651189	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-3.770000	0.00371	0.308000	0.22923	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-3.318795	1	0.170000	NM_033204			30	30		373	364	0		1	1		0	0	106	0		1	7.170813e-01	0	2	0	31	0	30	373
ZNF14	7561	broad.mit.edu	37	19	19822954	19822954	+	Missense_Mutation	SNP	C	C	T	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	ENST00000344099.3	-	4	1274	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	379			R -> Q (in dbSNP:rs3752153).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCATGCAATCGAAGAGAAAT	0.373													C|||	10	0.00199681	0.0	0.0	5008	,	,		21811	0.0089		0.0	False		,,,				2504	0.001					ENST00000344099.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1135-1137)cGa>cAa		zinc finger protein 14		C	GLN/ARG	0,4406		0,0,2203	95.0	95.0	95.0		1136	0.0	0.0	19	dbSNP_107	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF14	NM_021030.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	379/643	19822954	1,13005	2203	4300	6503	SO:0001583	missense	7561	0	0					g.chr19:19822954C>T	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.1136G>A	chr19.hg19:g.19822954C>T	ENSP00000340514:p.Arg379Gln	0						p.R379Q	NM_021030.2	NP_066358.2	1	2	3	2.010022	P17017	ZNF14_HUMAN		4	1274	-		Renal(1328;0.0474)	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	1	0	hg19	c.1136G>A	CCDS12409.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.577	0.667896	0.14710	0.0	1.16E-4	ENSG00000105708	ENST00000344099	T	0.04275	3.66	1.12	0.0113	0.14086	1.12	0.0113	0.14086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.21282	0.65	0.09310	N	1	P	0.40250	0.709	B	0.22386	0.039	T	0.36261	-0.9755	9	0.08179	T	0.78	.	1.8944	0.03255	0.3173:0.4539:0.0:0.2288	rs3752153;rs52811487;rs3752153	379	P17017	ZNF14_HUMAN	Q	379	ENSP00000340514:R379Q	ENSP00000340514:R379Q	R	-	2	0	0	ZNF14	19683954	19683954	0.001000	0.12720	0.019000	0.16419	0.869000	0.49853	0.632000	0.24583	0.040000	0.15660	-0.373000	0.07131	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.047163	1	0.170000	NM_021030			85	85		356	350	1		1	1		0	0	77	0		1	9.504118e-01	0	2	0	21	0	85	356
BTBD2	55643	broad.mit.edu	37	19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	463						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		CGTGTAGTTGACGTTGGGCAG	0.662																																						ENST00000255608.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1387-1389)gTc>gCc		BTB (POZ) domain containing 2							51.0	51.0	51.0					19																	1986857		2203	4300	6503	SO:0001583	missense	55643	0	0					g.chr19:1986857A>G	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1388T>C	chr19.hg19:g.1986857A>G	ENSP00000255608:p.Val463Ala	0					AC005306.3_ENST00000587498.1_RNA	p.V463A	NM_017797.3	NP_060267.2	1	2	3	2.010022	Q9BX70	BTBD2_HUMAN		8	1404	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	1	1	hg19	c.1388T>C	CCDS12078.1	1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773697	0.31411	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.68	0.42216	4.7	3.68	0.42216	PHR (1);	0.059770	0.64402	D	0.000003	T	0.67979	0.2951	L	0.52011	1.625	0.58432	D	0.999998	P	0.36222	0.544	B	0.38683	0.279	T	0.65010	-0.6272	10	0.40728	T	0.16	-44.8083	9.631	0.39778	0.9167:0.0:0.0833:0.0	.	463	Q9BX70	BTBD2_HUMAN	A	463	ENSP00000255608:V463A	ENSP00000255608:V463A	V	-	2	0	0	BTBD2	1937857	1937857	1.000000	0.71417	0.161000	0.22692	0.023000	0.10783	7.112000	0.77086	0.920000	0.36970	0.459000	0.35465	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000				58	58		273	268	1		1	1		0	0	50	0		1	1	0	95	0	257	0	58	273
BTBD2	55643	broad.mit.edu	37	19	1990071	1990071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1990071C>T	ENST00000255608.4	-	5	936	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	307				R -> L (in Ref. 6; CAB96527). {ECO:0000305}.		cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		CAGAACCTTCCGCCTGTTCTC	0.637																																						ENST00000255608.4	1.000000	0.110000	5.000000e-01	1.900000e-01	0.300000	0.369420	0.300000	0.270000																										0				12						c.(919-921)cGg>cAg		BTB (POZ) domain containing 2							50.0	45.0	47.0					19																	1990071		2203	4300	6503	SO:0001583	missense	55643	3	121398	31				g.chr19:1990071C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.920G>A	chr19.hg19:g.1990071C>T	ENSP00000255608:p.Arg307Gln	0					AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	p.R307Q	NM_017797.3	NP_060267.2	1	2	3	2.010022	Q9BX70	BTBD2_HUMAN		5	936	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	0	1	hg19	c.920G>A	CCDS12078.1	0	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870013	0.72065	.	.	ENSG00000133243	ENST00000255608	T	0.68331	-0.32	4.23	3.19	0.36642	4.23	3.19	0.36642	BTB/Kelch-associated (2);	0.056295	0.64402	D	0.000003	T	0.70945	0.3282	M	0.79805	2.47	0.53005	D	0.999964	P	0.43578	0.811	P	0.46208	0.507	T	0.72151	-0.4377	10	0.44086	T	0.13	-26.2441	11.1606	0.48514	0.0:0.9091:0.0:0.0909	.	307	Q9BX70	BTBD2_HUMAN	Q	307	ENSP00000255608:R307Q	ENSP00000255608:R307Q	R	-	2	0	0	BTBD2	1941071	1941071	1.000000	0.71417	0.947000	0.38551	0.648000	0.38561	4.679000	0.61649	0.998000	0.38996	0.549000	0.68633	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2	0	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-3.318486	1	0.170000				5	5		215	208	0		1	1		0	0	51	0		9.328107e-01	9.838827e-01	0	25	0	318	0	5	215
MKNK2	2872	broad.mit.edu	37	19	2043157	2043157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000591601.1	-	6	494	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.D153D			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	153	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)			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)		GGTAGAAGCGGTCCTCCTCCT	0.627																																						ENST00000591601.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(457-459)gaC>gaT		MAP kinase interacting serine/threonine kinase 2							145.0	144.0	145.0					19																	2043157		2203	4300	6503	SO:0001819	synonymous_variant	2872	0	0					g.chr19:2043157G>A	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.459C>T	chr19.hg19:g.2043157G>A		0					MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.D153D|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank	p.D153D			1	2	3	2.010022	Q9HBH9	MKNK2_HUMAN		6	494	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	1	1	hg19	c.459C>T	CCDS12080.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	1	0	1		18	2	2	0		0	1	216		216	214	1	2.060000	-20.000000	1	0.170000	NM_199054			199	189		909	883	0		1	1		0	0	216	0		1	1	0	120	0	265	0	199	909
ZNF14	7561	broad.mit.edu	37	19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C	rs188838618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				TTCTCTCCACTATGAGTCCTT	0.388													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20745	0.0		0.0	False		,,,				2504	0.0					ENST00000344099.3	1.000000	0.250000	7.700000e-01	3.700000e-01	0.530000	0.571964	0.530000	0.500000																										0				32						c.(904-906)Agt>Ggt		zinc finger protein 14							42.0	42.0	42.0					19																	19823186		2203	4300	6503	SO:0001583	missense	7561	0	0					g.chr19:19823186T>C	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.904A>G	chr19.hg19:g.19823186T>C	ENSP00000340514:p.Ser302Gly	0						p.S302G	NM_021030.2	NP_066358.2	1	2	3	2.010022	P17017	ZNF14_HUMAN		4	1042	-		Renal(1328;0.0474)	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	1	1	hg19	c.904A>G	CCDS12409.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.64	3.438753	0.62955	.	.	ENSG00000105708	ENST00000344099	T	0.19669	2.13	1.8	1.8	0.24995	1.8	1.8	0.24995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.60067	1.865	0.22240	N	0.999268	P	0.36086	0.536	B	0.40256	0.324	T	0.25222	-1.0138	9	0.87932	D	0	.	3.952	0.09374	0.3229:0.0:0.0:0.6771	.	302	P17017	ZNF14_HUMAN	G	302	ENSP00000340514:S302G	ENSP00000340514:S302G	S	-	1	0	0	ZNF14	19684186	19684186	1.000000	0.71417	0.031000	0.17742	0.777000	0.43975	2.010000	0.40913	0.811000	0.34303	0.383000	0.25322	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-11.621150	1	0.170000	NM_021030			9	9		206	202	0		1	0		0	0	64	0		9.940158e-01	1.380742e-01	0	0	0	14	0	9	206
ZNF626	199777	broad.mit.edu	37	19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A	rs199778234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	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)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATCTTATGCGTAGTAAGGTC	0.383													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21858	0.0		0.0	False		,,,				2504	0.0					ENST00000601440.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1156-1158)aCg>aTg		zinc finger protein 626		G	MET/THR	1,4285		0,1,2142	60.0	63.0	62.0		1157	-1.5	0.0	19		62	4,8558		0,4,4277	no	missense	ZNF626	NM_001076675.2	81	0,5,6419	AA,AG,GG		0.0467,0.0233,0.0389	possibly-damaging	386/529	20807526	5,12843	2143	4281	6424	SO:0001583	missense	199777	15	121200	46				g.chr19:20807526G>A	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.1157C>T	chr19.hg19:g.20807526G>A	ENSP00000469958:p.Thr386Met	0					CTC-513N18.7_ENST00000595094.1_lincRNA	p.T386M	NM_001076675.2	NP_001070143.1	1	2	3	2.010022	Q68DY1	ZN626_HUMAN		4	1303	-			Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	1	0	hg19	c.1157C>T	CCDS42535.1	1	.	.	.	.	.	.	.	.	.	.	N	8.123	0.781388	0.16120	2.33E-4	4.67E-4	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.52793	0.709	T	0.14924	-1.0455	8	0.52906	T	0.07	.	2.2019	0.03926	0.3045:0.3393:0.3562:0.0	.	386	Q68DY1	ZN626_HUMAN	M	386;310;386	.	ENSP00000445201:T386M	T	-	2	0	0	ZNF626	20599366	20599366	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-7.731000	0.00031	0.284000	0.22305	0.289000	0.19496	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.128649	1	0.170000	NM_145297			72	70		338	321	1		1	0		0	0	92	0		1	1.470152e-01	0	0	0	4	0	72	338
ZNF626	199777	broad.mit.edu	37	19	20808152	20808152	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343																																						ENST00000601440.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(529-531)gaA>gaG		zinc finger protein 626							69.0	67.0	67.0					19																	20808152		2067	4246	6313	SO:0001819	synonymous_variant	199777	0	0					g.chr19:20808152T>C	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.531A>G	chr19.hg19:g.20808152T>C		0					CTC-513N18.7_ENST00000595094.1_lincRNA	p.E177E	NM_001076675.2	NP_001070143.1	1	2	3	2.010022	Q68DY1	ZN626_HUMAN		4	677	-			Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	1	1	hg19	c.531A>G	CCDS42535.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_145297			50	49		214	207	1		1	0		0	0	63	0		1	5.353674e-01	0	0	0	9	0	50	214
ZNF85	7639	broad.mit.edu	37	19	21131671	21131671	+	Silent	SNP	C	C	A	rs199813082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000328178.8	+	4	464	c.351C>A	c.(349-351)ggC>ggA	p.G117G	ZNF85_ENST00000601023.1_Silent_p.G58G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	117					transcription, DNA-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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353																																						ENST00000328178.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(349-351)ggC>ggA		zinc finger protein 85							60.0	61.0	61.0					19																	21131671		2203	4299	6502	SO:0001819	synonymous_variant	7639	0	0					g.chr19:21131671C>A	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.351C>A	chr19.hg19:g.21131671C>A		0					ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000601023.1_Silent_p.G58G	p.G117G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	1	2	3	2.010022	Q03923	ZNF85_HUMAN		4	464	+			B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	1	1	hg19	c.351C>A	CCDS32977.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-4.575195	1	0.170000	NM_003429			57	56		288	286	1		1	0		0	0	61	0		1	7.527064e-02	0	0	0	3	0	57	288
ZNF85	7639	broad.mit.edu	37	19	21131956	21131956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000328178.8	+	4	749	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF85_ENST00000601023.1_Silent_p.N153N|ZNF85_ENST00000345030.6_Silent_p.N179N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	212					transcription, DNA-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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368																																						ENST00000328178.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(634-636)aaC>aaT		zinc finger protein 85							38.0	41.0	40.0					19																	21131956		2196	4296	6492	SO:0001819	synonymous_variant	7639	0	0					g.chr19:21131956C>T	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.636C>T	chr19.hg19:g.21131956C>T		0					ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000601023.1_Silent_p.N153N	p.N212N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	1	2	3	2.010022	Q03923	ZNF85_HUMAN		4	749	+			B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	1	1	hg19	c.636C>T	CCDS32977.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_003429			58	58		200	195	0		1	0		0	0	52	0		1	4.918167e-01	0	1	0	6	0	58	200
ZNF85	7639	broad.mit.edu	37	19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C	rs557006224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000328178.8	+	4	837	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ZNF85_ENST00000601023.1_Missense_Mutation_p.S183P|ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	242					transcription, DNA-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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358																																						ENST00000328178.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				20						c.(724-726)Tcc>Ccc		zinc finger protein 85							27.0	30.0	29.0					19																	21132044		2185	4280	6465	SO:0001583	missense	7639	6	121240	34				g.chr19:21132044T>C	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.724T>C	chr19.hg19:g.21132044T>C	ENSP00000329793:p.Ser242Pro	0					ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000601023.1_Missense_Mutation_p.S183P	p.S242P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	1	2	3	2.010022	Q03923	ZNF85_HUMAN		4	837	+			B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	1	1	hg19	c.724T>C	CCDS32977.1	1	.	.	.	.	.	.	.	.	.	.	.	5.177	0.218265	0.09810	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.01084	5.36;5.36	1.35	-2.7	0.06004	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.28115	0.83	0.09310	N	1	B;P;B	0.41748	0.016;0.761;0.012	B;B;B	0.29942	0.013;0.109;0.016	T	0.45934	-0.9227	9	0.48119	T	0.1	.	0.2719	0.00232	0.3076:0.2934:0.1852:0.2138	.	209;183;242	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	242;209;117	ENSP00000329793:S242P;ENSP00000342340:S209P	ENSP00000329793:S242P	S	+	1	0	0	ZNF85	20923884	20923884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.366000	0.08064	-0.464000	0.05259	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_003429			36	35		198	195	1		1	0		0	0	40	0		1	1.776218e-01	0	0	0	5	0	36	198
ZNF85	7639	broad.mit.edu	37	19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000328178.8	+	4	1306	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ZNF85_ENST00000601023.1_Missense_Mutation_p.Y339C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	398					transcription, DNA-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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328																																						ENST00000328178.8	1.000000	0.690000	1	9.200000e-01	0.990000	0.966236	0.990000	1.000000																										0				20						c.(1192-1194)tAc>tGc		zinc finger protein 85							31.0	34.0	33.0					19																	21132513		2199	4293	6492	SO:0001583	missense	7639	0	0					g.chr19:21132513A>G	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.1193A>G	chr19.hg19:g.21132513A>G	ENSP00000329793:p.Tyr398Cys	0					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y339C	p.Y398C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	1	2	3	2.010022	Q03923	ZNF85_HUMAN		4	1306	+			B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	0	1	hg19	c.1193A>G	CCDS32977.1	1	.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.70903	2.155	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.995;0.955	T	0.21999	-1.0229	9	0.66056	D	0.02	.	2.1393	0.03771	0.5521:0.0:0.193:0.2549	.	365;339;398	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	398;365;273	ENSP00000329793:Y398C;ENSP00000342340:Y365C	ENSP00000329793:Y398C	Y	+	2	0	0	ZNF85	20924353	20924353	0.000000	0.05858	0.038000	0.18304	0.086000	0.17979	-0.339000	0.07832	0.569000	0.29329	0.379000	0.24179	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.939940	1	0.170000	NM_003429			14	14		127	124	1		1	0		0	0	20	0		9.997735e-01	5.950387e-02	0	0	0	4	0	14	127
AP3D1	8943	broad.mit.edu	37	19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000345016.5	-	17	2182	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000355272.6_Missense_Mutation_p.R651W	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	651					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)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTGGGACGCCGCTGCTCCTCC	0.697																																						ENST00000345016.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				37						c.(1951-1953)Cgg>Tgg		adaptor-related protein complex 3, delta 1 subunit							27.0	29.0	28.0					19																	2116654		2111	4230	6341	SO:0001583	missense	8943	3	120568	30				g.chr19:2116654G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1951C>T	chr19.hg19:g.2116654G>A	ENSP00000344055:p.Arg651Trp	0					AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000355272.6_Missense_Mutation_p.R651W	p.R651W	NM_003938.6	NP_003929.4	1	2	3	2.010022	O14617	AP3D1_HUMAN		17	2182	-		Hepatocellular(1079;0.137)	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	1	1	hg19	c.1951C>T	CCDS42459.1	1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319203	0.41096	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.64618	2.13;-0.11;1.49;-0.11	5.16	1.7	0.24286	5.16	1.7	0.24286	Armadillo-like helical (1);	0.156867	0.56097	D	0.000035	T	0.71048	0.3294	M	0.65975	2.015	0.24027	N	0.996123	D;B;D	0.76494	0.999;0.173;0.998	P;B;D	0.65987	0.854;0.111;0.94	T	0.61739	-0.7001	10	0.59425	D	0.04	-33.7094	8.0557	0.30604	0.0973:0.0:0.3076:0.595	.	651;651;560	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	W	560;651;651;651;482	ENSP00000349398:R560W;ENSP00000344055:R651W;ENSP00000347416:R651W;ENSP00000342321:R482W	ENSP00000341579:R651W	R	-	1	2	2	AP3D1	2067654	2067654	0.920000	0.31207	0.061000	0.19648	0.152000	0.21847	1.782000	0.38654	0.008000	0.14787	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				19	19		66	65	1		1	1		0	0	14	0		9.999957e-01	1	0	49	0	145	0	19	66
ZNF85	7639	broad.mit.edu	37	19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000328178.8	+	4	1642	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	ZNF85_ENST00000601023.1_Missense_Mutation_p.Y451C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	510					transcription, DNA-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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358																																						ENST00000328178.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1528-1530)tAc>tGc		zinc finger protein 85							27.0	30.0	29.0					19																	21132849		2154	4278	6432	SO:0001583	missense	7639	0	0					g.chr19:21132849A>G	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.1529A>G	chr19.hg19:g.21132849A>G	ENSP00000329793:p.Tyr510Cys	0					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y451C	p.Y510C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	1	2	3	2.010022	Q03923	ZNF85_HUMAN		4	1642	+			B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	1	1	hg19	c.1529A>G	CCDS32977.1	1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452397	0.26074	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82630	2.6	0.23585	N	0.997358	B;D;D	0.89917	0.335;1.0;1.0	B;D;D	0.87578	0.079;0.998;0.99	T	0.21381	-1.0247	9	0.66056	D	0.02	.	4.7728	0.13164	0.5682:0.0:0.0:0.4318	.	477;451;510	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	510;477;385	ENSP00000329793:Y510C;ENSP00000342340:Y477C	ENSP00000329793:Y510C	Y	+	2	0	0	ZNF85	20924689	20924689	0.001000	0.12720	0.011000	0.14972	0.135000	0.20990	-0.032000	0.12266	0.569000	0.29329	0.379000	0.24179	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_003429			40	39		176	172	1		1	0		0	0	55	0		1	2.396079e-01	0	0	0	5	0	40	176
AP3D1	8943	broad.mit.edu	37	19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000345016.5	-	14	1543	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000355272.6_Missense_Mutation_p.A438T	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	438					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)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ATTTGGGCGGCGATGAGGTGG	0.662																																						ENST00000345016.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1312-1314)Gcc>Acc		adaptor-related protein complex 3, delta 1 subunit							61.0	69.0	66.0					19																	2121030		2174	4272	6446	SO:0001583	missense	8943	4	121208	36				g.chr19:2121030C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1312G>A	chr19.hg19:g.2121030C>T	ENSP00000344055:p.Ala438Thr	0					AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000355272.6_Missense_Mutation_p.A438T	p.A438T	NM_003938.6	NP_003929.4	1	2	3	2.010022	O14617	AP3D1_HUMAN		14	1543	-		Hepatocellular(1079;0.137)	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	1	1	hg19	c.1312G>A	CCDS42459.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992887	0.93167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.67	4.67	0.58626	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74023	0.866;0.97;0.982	T	0.68029	-0.5517	10	0.72032	D	0.01	-8.4116	16.537	0.84375	0.0:1.0:0.0:0.0	.	438;438;347	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	T	347;438;438;438;269	ENSP00000349398:A347T;ENSP00000344055:A438T;ENSP00000347416:A438T;ENSP00000342321:A269T	ENSP00000341579:A438T	A	-	1	0	0	AP3D1	2072030	2072030	1.000000	0.71417	0.658000	0.29665	0.674000	0.39518	7.641000	0.83368	2.161000	0.67846	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				53	53		267	265	1		1	1		0	0	52	0		1	1	0	59	0	188	0	53	267
AP3D1	8943	broad.mit.edu	37	19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000345016.5	-	12	1253	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000355272.6_Missense_Mutation_p.H341R	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	341					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)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GAGGTCCTTGTGGGACTGCAC	0.637																																						ENST00000345016.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1021-1023)cAc>cGc		adaptor-related protein complex 3, delta 1 subunit							126.0	144.0	138.0					19																	2121812		2137	4221	6358	SO:0001583	missense	8943	0	0					g.chr19:2121812T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1022A>G	chr19.hg19:g.2121812T>C	ENSP00000344055:p.His341Arg	0					AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000355272.6_Missense_Mutation_p.H341R	p.H341R	NM_003938.6	NP_003929.4	1	2	3	2.010022	O14617	AP3D1_HUMAN		12	1253	-		Hepatocellular(1079;0.137)	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	1	1	hg19	c.1022A>G	CCDS42459.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802321	0.90538	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.39	4.39	0.52855	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.94101	3.495	0.80722	D	1	P;D;P	0.53885	0.903;0.963;0.921	P;D;P	0.67103	0.699;0.949;0.851	T	0.59172	-0.7504	10	0.72032	D	0.01	-49.3114	13.0686	0.59048	0.0:0.0:0.0:1.0	.	341;341;250	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	250;341;341;341;172	ENSP00000349398:H250R;ENSP00000344055:H341R;ENSP00000347416:H341R;ENSP00000342321:H172R	ENSP00000341579:H341R	H	-	2	0	0	AP3D1	2072812	2072812	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.813000	0.86123	1.759000	0.51996	0.379000	0.24179	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000				147	147		686	674	1		1	1		0	0	158	0		1	1	0	84	0	168	0	147	686
ZNF430	80264	broad.mit.edu	37	19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T|ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	20					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)			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						ATGCCCTGGGGCTGACAGGAA	0.443																																						ENST00000261560.5	1.000000	0.320000	6.800000e-01	4.100000e-01	0.520000	0.560992	0.520000	0.500000																										0				23						c.(58-60)Gct>Act		zinc finger protein 430							97.0	99.0	98.0					19																	21205649		2203	4300	6503	SO:0001583	missense	80264	0	0					g.chr19:21205649G>A	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.58G>A	chr19.hg19:g.21205649G>A	ENSP00000261560:p.Ala20Thr	0					ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T|ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T	p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	1	2	3	2.010022	Q9H8G1	ZN430_HUMAN		2	239	+			Q86V70	Missense_Mutation	SNP	ENST00000261560.5	1	1	hg19	c.58G>A	CCDS32978.1	0	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320681	0.23994	.	.	ENSG00000118620	ENST00000261560	T	0.04862	3.54	0.82	-0.347	0.12617	0.82	-0.347	0.12617	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B	0.34103	0.32;0.437	B;B	0.27500	0.02;0.08	T	0.43410	-0.9393	9	0.11182	T	0.66	.	2.9792	0.05948	0.3723:0.0:0.6277:0.0	.	20;20	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	20	ENSP00000261560:A20T	ENSP00000261560:A20T	A	+	1	0	0	ZNF430	20997489	20997489	0.003000	0.15002	0.002000	0.10522	0.543000	0.35085	-1.040000	0.03546	-0.098000	0.12285	0.313000	0.20887	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-19.817840	1	0.170000	NM_025189			21	21		472	464	0		1	0		0	0	97	0		9.999972e-01	2.562982e-01	0	1	0	21	0	21	472
ZNF430	80264	broad.mit.edu	37	19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	226					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)			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						ACATAAAAGAATTCATATTAG	0.318																																						ENST00000261560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(676-678)Att>Gtt		zinc finger protein 430							38.0	41.0	40.0					19																	21239790		2202	4298	6500	SO:0001583	missense	80264	0	0					g.chr19:21239790A>G	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.676A>G	chr19.hg19:g.21239790A>G	ENSP00000261560:p.Ile226Val	0					AC012627.1_ENST00000578233.1_RNA	p.I226V	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	1	2	3	2.010022	Q9H8G1	ZN430_HUMAN		5	857	+			Q86V70	Missense_Mutation	SNP	ENST00000261560.5	1	1	hg19	c.676A>G	CCDS32978.1	1	.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650570	0.03506	.	.	ENSG00000118620	ENST00000261560	T	0.00986	5.47	1.04	-2.09	0.07232	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05158	-0.105	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.26517	0.002;0.07	T	0.46748	-0.9169	9	0.52906	T	0.07	.	2.3597	0.04304	0.5631:0.0:0.1985:0.2384	.	225;226	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	226	ENSP00000261560:I226V	ENSP00000261560:I226V	I	+	1	0	0	ZNF430	21031630	21031630	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.127000	0.10547	-1.622000	0.01560	-1.685000	0.00733	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_025189			38	38		151	147	1		1	1		0	0	36	0		1	5.026881e-01	0	4	0	4	0	38	151
ZNF430	80264	broad.mit.edu	37	19	21240602	21240602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	ENST00000261560.5	+	5	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	496					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)			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						CTTTTAACCAATTCTCAAACC	0.363																																						ENST00000261560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1486-1488)caA>caC		zinc finger protein 430							58.0	62.0	61.0					19																	21240602		2203	4300	6503	SO:0001583	missense	80264	0	0					g.chr19:21240602A>C	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.1488A>C	chr19.hg19:g.21240602A>C	ENSP00000261560:p.Gln496His	0					AC012627.1_ENST00000578233.1_RNA	p.Q496H	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	1	2	3	2.010022	Q9H8G1	ZN430_HUMAN		5	1669	+			Q86V70	Missense_Mutation	SNP	ENST00000261560.5	1	0	hg19	c.1488A>C	CCDS32978.1	1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.881327	0.00532	.	.	ENSG00000118620	ENST00000261560	T	0.60920	0.15	1.0	-2.01	0.07410	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35913	0.0948	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.23261	-1.0193	9	0.12103	T	0.63	.	2.1703	0.03847	0.2537:0.0:0.319:0.4272	.	495;496	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	H	496	ENSP00000261560:Q496H	ENSP00000261560:Q496H	Q	+	3	2	2	ZNF430	21032442	21032442	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.943000	0.00329	-0.629000	0.05575	-0.652000	0.03908	CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.506479	1	0.170000	NM_025189			39	39		169	165	1		1	1		0	0	45	0		1	7.997599e-01	0	2	0	13	0	39	169
ZNF708	7562	broad.mit.edu	37	19	21476148	21476148	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	ENST00000356929.3	-	4	1817	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	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)			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						ACTGGTTAAAGGCTTTGCCAC	0.348																																						ENST00000356929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1618-1620)gcC>gcA		zinc finger protein 708							61.0	67.0	65.0					19																	21476148		2203	4299	6502	SO:0001819	synonymous_variant	7562	0	0					g.chr19:21476148G>T	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.1620C>A	chr19.hg19:g.21476148G>T		0						p.A540A	NM_021269.2	NP_067092.2	1	2	3	2.010022	P17019	ZN708_HUMAN		4	1817	-			Q6ZMR0	Silent	SNP	ENST00000356929.3	1	0	hg19	c.1620C>A	CCDS32980.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	0	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-2.342866	0	0.170000	NM_021269			58	57		304	296	1		1	0		0	0	90	0		1	1.883700e-01	0	0	0	5	0	58	304
ZNF708	7562	broad.mit.edu	37	19	21476283	21476283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	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)			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						TATGAATTATCTTATGTGTAG	0.333																																						ENST00000356929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1483-1485)aaG>aaA		zinc finger protein 708							42.0	47.0	45.0					19																	21476283		2196	4295	6491	SO:0001819	synonymous_variant	7562	0	0					g.chr19:21476283C>T	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.1485G>A	chr19.hg19:g.21476283C>T		0						p.K495K	NM_021269.2	NP_067092.2	1	2	3	2.010022	P17019	ZN708_HUMAN		4	1682	-			Q6ZMR0	Silent	SNP	ENST00000356929.3	1	0	hg19	c.1485G>A	CCDS32980.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-4.469667	1	0.170000	NM_021269			75	74		248	243	0		1	0		0	0	78	0		1	1.385784e-01	0	0	0	3	0	75	248
ZNF708	7562	broad.mit.edu	37	19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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						AAGGTTTGAGGACCGGTTAAA	0.358																																						ENST00000356929.3	1.000000	0.720000	1	8.700000e-01	0.990000	0.955912	0.990000	1.000000																										0				32						c.(790-792)tCc>tTc		zinc finger protein 708							45.0	49.0	48.0					19																	21476977		2160	4279	6439	SO:0001583	missense	7562	0	0					g.chr19:21476977G>A	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.791C>T	chr19.hg19:g.21476977G>A	ENSP00000349401:p.Ser264Phe	0						p.S264F	NM_021269.2	NP_067092.2	1	2	3	2.010022	P17019	ZN708_HUMAN		4	988	-			Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	1	1	hg19	c.791C>T	CCDS32980.1	1	.	.	.	.	.	.	.	.	.	.	.	0	-2.758436	0.00084	.	.	ENSG00000182141	ENST00000356929	T	0.08008	3.14	1.05	-2.1	0.07210	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.49214	-0.8963	9	0.09843	T	0.71	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	F	264	ENSP00000349401:S264F	ENSP00000349401:S264F	S	-	2	0	0	ZNF708	21268817	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_021269			29	26		302	294	0		1	0		0	0	78	0		1	1.594806e-01	0	0	0	8	0	29	302
ZNF708	7562	broad.mit.edu	37	19	21492088	21492088	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TCATATTCCAGGGCTCTTTTC	0.418																																						ENST00000356929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(184-186)ccC>ccA		zinc finger protein 708							119.0	117.0	118.0					19																	21492088		2203	4300	6503	SO:0001819	synonymous_variant	7562	0	0					g.chr19:21492088G>T	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.186C>A	chr19.hg19:g.21492088G>T		0						p.P62P	NM_021269.2	NP_067092.2	1	2	3	2.010022	P17019	ZN708_HUMAN		3	383	-			Q6ZMR0	Silent	SNP	ENST00000356929.3	1	1	hg19	c.186C>A	CCDS32980.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	1		2	2	2	0		0	0	169		169	167	1	2.060000	-2.841673	1	0.170000	NM_021269			99	97		635	613	1		1	1		0	0	169	0		1	4.514261e-01	0	2	0	9	0	99	635
ZNF493	284443	broad.mit.edu	37	19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000355504.4	+	2	334	c.68G>T	c.(67-69)aGc>aTc	p.S23I	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S151I	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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)			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						ACTACCCAGAGCAAAATATTT	0.284																																						ENST00000355504.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(67-69)aGc>aTc		zinc finger protein 493							77.0	79.0	79.0					19																	21605913		2203	4293	6496	SO:0001583	missense	284443	0	0					g.chr19:21605913G>T	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.68G>T	chr19.hg19:g.21605913G>T	ENSP00000347691:p.Ser23Ile	0					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S151I	p.S23I	NM_175910.6	NP_787106.4	1	2	3	2.010022	Q6ZR52	ZN493_HUMAN		2	334	+			G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	1	1	hg19	c.68G>T	CCDS12412.1	1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.795162	0.31777	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09817	3.21;2.94	0.916	0.916	0.19373	0.916	0.916	0.19373	.	.	.	.	.	T	0.22085	0.0532	M	0.82323	2.585	0.24499	N	0.994266	B;D	0.53151	0.246;0.958	B;P	0.51229	0.064;0.663	T	0.08351	-1.0726	9	0.72032	D	0.01	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	23;151	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	151;23	ENSP00000376110:S151I;ENSP00000347691:S23I	ENSP00000347691:S23I	S	+	2	0	0	ZNF493	21397753	21397753	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-3.047000	0.00630	0.300000	0.22699	0.305000	0.20034	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_175910			91	90		386	375	1		1	0		0	0	98	0		1	3.721294e-02	0	0	0	2	0	91	386
ZNF429	353088	broad.mit.edu	37	19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343																																						ENST00000358491.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				34						c.(352-354)aaA>aaC		zinc finger protein 429							72.0	75.0	74.0					19																	21719209		2123	4262	6385	SO:0001583	missense	353088	0	0					g.chr19:21719209A>C	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.354A>C	chr19.hg19:g.21719209A>C	ENSP00000351280:p.Lys118Asn	0					ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	p.K118N	NM_001001415.2	NP_001001415.2	1	2	3	2.010022	Q86V71	ZN429_HUMAN		4	562	+			A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	1	1	hg19	c.354A>C	CCDS42537.1	1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689066	0.29962	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	1.17	-0.284	0.12870	1.17	-0.284	0.12870	.	.	.	.	.	T	0.14874	0.0359	M	0.84948	2.725	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.14200	-1.0481	9	0.56958	D	0.05	.	1.5337	0.02541	0.4502:0.0:0.2433:0.3065	.	118	Q86V71	ZN429_HUMAN	N	118	ENSP00000351280:K118N	ENSP00000351280:K118N	K	+	3	2	2	ZNF429	21511049	21511049	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	0.100000	0.15231	-0.287000	0.09064	0.248000	0.18094	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001001415			35	35		201	195	1		1	0		0	0	63	0		1	2.276498e-01	0	1	0	5	0	35	201
ZNF429	353088	broad.mit.edu	37	19	21720670	21720670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	ENST00000358491.4	+	4	2023	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATCGGTCCTCAAGACTTA	0.373																																						ENST00000358491.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1813-1815)tcC>tcT		zinc finger protein 429							58.0	63.0	61.0					19																	21720670		2082	4255	6337	SO:0001819	synonymous_variant	353088	0	0					g.chr19:21720670C>T	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.1815C>T	chr19.hg19:g.21720670C>T		0					ZNF429_ENST00000597078.1_Intron	p.S605S	NM_001001415.2	NP_001001415.2	1	2	3	2.010022	Q86V71	ZN429_HUMAN		4	2023	+			A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	1	0	hg19	c.1815C>T	CCDS42537.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.091725	1	0.170000	NM_001001415			76	72		254	242	1		1	0		0	0	71	0		1	7.069598e-01	0	0	0	10	0	76	254
ZNF100	163227	broad.mit.edu	37	19	21909803	21909803	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	ENST00000358296.6	-	5	1509	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_ENST00000305570.6_Silent_p.A373A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTCATTAAAAGCTTTGCCAC	0.423																																						ENST00000358296.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1309-1311)gcT>gcG		zinc finger protein 100							69.0	76.0	73.0					19																	21909803		2200	4296	6496	SO:0001819	synonymous_variant	163227	0	0					g.chr19:21909803A>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1311T>G	chr19.hg19:g.21909803A>C		0					ZNF100_ENST00000305570.6_Silent_p.A373A	p.A437A	NM_173531.3	NP_775802.2	1	2	3	2.010022	Q8IYN0	ZN100_HUMAN		5	1509	-			Q7M4M0	Silent	SNP	ENST00000358296.6	1	0	hg19	c.1311T>G	CCDS42538.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-2.824950	1	0.170000	NM_173531			86	84		363	354	1		1	0		0	0	76	0		1	3.272997e-01	0	0	0	6	0	86	363
ZNF100	163227	broad.mit.edu	37	19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A	rs202116657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303																																						ENST00000358296.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(649-651)Ctt>Ttt		zinc finger protein 100							54.0	57.0	56.0					19																	21910465		2066	4230	6296	SO:0001583	missense	163227	0	0					g.chr19:21910465G>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.649C>T	chr19.hg19:g.21910465G>A	ENSP00000351042:p.Leu217Phe	0					ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	p.L217F	NM_173531.3	NP_775802.2	1	2	3	2.010022	Q8IYN0	ZN100_HUMAN		5	847	-			Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	1	1	hg19	c.649C>T	CCDS42538.1	1	.	.	.	.	.	.	.	.	.	.	.	2.310	-0.358056	0.05138	.	.	ENSG00000197020	ENST00000358296	T	0.01005	5.45	1.04	-2.09	0.07232	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00784	0.0026	L	0.28649	0.875	0.09310	N	1	B;B	0.21688	0.043;0.059	B;B	0.27715	0.039;0.082	T	0.46555	-0.9183	9	0.08599	T	0.76	.	6.7097	0.23270	0.0:0.0:0.7206:0.2794	.	217;271	Q8IYN0;Q4G131	ZN100_HUMAN;.	F	217	ENSP00000351042:L217F	ENSP00000351042:L217F	L	-	1	0	0	ZNF100	21702305	21702305	.	.	0.006000	0.13384	0.171000	0.22731	.	.	-0.656000	0.05380	0.174000	0.16983	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	1	0	1		2	2	2	0		0	0	48		48	50	1	2.060000	-20.000000	1	0.170000	NM_173531			42	42		220	218	1		1	0		0	0	48	0		1	4.991187e-01	0	1	0	9	0	42	220
ZNF43	7594	broad.mit.edu	37	19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000354959.4	-	4	2096	c.1927A>T	c.(1927-1929)Att>Ttt	p.I643F	ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000594012.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TCAGTGTGAATTATCTTATGT	0.353																																						ENST00000354959.4	1.000000	0.300000	7.600000e-01	4.100000e-01	0.550000	0.591659	0.550000	0.520000																										0				51						c.(1927-1929)Att>Ttt		zinc finger protein 43							43.0	46.0	45.0					19																	21990912		2200	4296	6496	SO:0001583	missense	7594	0	0					g.chr19:21990912T>A	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.1927A>T	chr19.hg19:g.21990912T>A	ENSP00000347045:p.Ile643Phe	0					ZNF43_ENST00000594012.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F	p.I643F	NM_003423.3	NP_003414.2	1	2	3	2.010022	P17038	ZNF43_HUMAN		4	2096	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	1	1	hg19	c.1927A>T	CCDS12413.2	0	.	.	.	.	.	.	.	.	.	.	t	8.737	0.918085	0.17982	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.18338	2.22	1.21	1.21	0.21127	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	L	0.54908	1.71	0.29620	N	0.846279	D	0.69078	0.997	D	0.76071	0.987	T	0.11299	-1.0593	9	0.66056	D	0.02	.	4.7412	0.13013	0.277:0.0:0.0:0.723	.	643	P17038	ZNF43_HUMAN	F	642;643	ENSP00000347045:I643F	ENSP00000347045:I643F	I	-	1	0	0	ZNF43	21782752	21782752	0.001000	0.12720	0.050000	0.19076	0.925000	0.55904	0.826000	0.27407	0.808000	0.34231	0.254000	0.18369	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-15.080160	1	0.170000	NM_003423			13	13		279	272	0		1	0		0	0	54	0		9.994893e-01	1.779981e-01	0	0	0	16	0	13	279
ZNF43	7594	broad.mit.edu	37	19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000354959.4	-	4	1973	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000594012.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	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)			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)		TGGGTAAAAGCTTTGCCACAT	0.353																																						ENST00000354959.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1804-1806)Gct>Act		zinc finger protein 43							47.0	50.0	49.0					19																	21991035		2203	4298	6501	SO:0001583	missense	7594	0	0					g.chr19:21991035C>T	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.1804G>A	chr19.hg19:g.21991035C>T	ENSP00000347045:p.Ala602Thr	0					ZNF43_ENST00000594012.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T	p.A602T	NM_003423.3	NP_003414.2	1	2	3	2.010022	P17038	ZNF43_HUMAN		4	1973	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	1	1	hg19	c.1804G>A	CCDS12413.2	1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.564185	0.27915	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16897	2.31	1.76	0.623	0.17654	1.76	0.623	0.17654	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.11560	0.145	0.23712	N	0.997041	B	0.33022	0.394	B	0.33121	0.158	T	0.29549	-1.0008	9	0.39692	T	0.17	.	0.8388	0.01145	0.2283:0.3779:0.2261:0.1677	.	602	P17038	ZNF43_HUMAN	T	601;602	ENSP00000347045:A602T	ENSP00000347045:A602T	A	-	1	0	0	ZNF43	21782875	21782875	0.000000	0.05858	0.066000	0.19879	0.802000	0.45316	-2.249000	0.01188	0.081000	0.16988	0.305000	0.20034	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_003423			42	41		205	203	1		1	0		0	0	54	0		1	5.325480e-01	0	1	0	9	0	42	205
ZNF208	7757	broad.mit.edu	37	19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1061					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				TTGCCACATTCTTCACATTTG	0.453																																						ENST00000397126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(3181-3183)Gaa>Aaa		zinc finger protein 208							127.0	129.0	129.0					19																	22154655		2140	4246	6386	SO:0001583	missense	7757	0	0					g.chr19:22154655C>T	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.3181G>A	chr19.hg19:g.22154655C>T	ENSP00000380315:p.Glu1061Lys	0					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.E1061K	NM_007153.3	NP_009084.2	1	2	3	2.010022	O43345	ZN208_HUMAN		4	3329	-		all_lung(12;0.0961)|Lung NSC(12;0.103)		Missense_Mutation	SNP	ENST00000397126.4	1	1	hg19	c.3181G>A	CCDS54240.1	1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.59	-0.806	0.10875	2.59	-0.806	0.10875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.34038	0.174	T	0.35475	-0.9787	8	0.48119	T	0.1	.	7.6796	0.28505	0.0:0.6902:0.1824:0.1274	.	933	O43345	ZN208_HUMAN	K	1061;933	ENSP00000380315:E1061K	ENSP00000380315:E1061K	E	-	1	0	0	ZNF208	21946495	21946495	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.696000	0.05104	0.119000	0.18210	0.297000	0.19635	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-20.000000	1	0.170000	NM_007153			132	127		579	563	1		1	0		0	0	132	0		1	0	0	0	0	1	0	132	579
ZNF208	7757	broad.mit.edu	37	19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				CCACATTCTTCACATTTGTAG	0.363																																						ENST00000397126.4	1.000000	0.640000	1	8.000000e-01	0.990000	0.924482	0.990000	1.000000																										0				113						c.(2338-2340)Gaa>Aaa		zinc finger protein 208							40.0	44.0	43.0					19																	22155498		2072	4229	6301	SO:0001583	missense	7757	0	0					g.chr19:22155498C>T	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.2338G>A	chr19.hg19:g.22155498C>T	ENSP00000380315:p.Glu780Lys	0					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.E780K	NM_007153.3	NP_009084.2	1	2	3	2.010022	O43345	ZN208_HUMAN		4	2486	-		all_lung(12;0.0961)|Lung NSC(12;0.103)		Missense_Mutation	SNP	ENST00000397126.4	1	1	hg19	c.2338G>A	CCDS54240.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909089	0.00508	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.28	1.18	0.20946	2.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	P	0.41498	0.752	P	0.46917	0.531	T	0.13791	-1.0496	8	0.07030	T	0.85	.	3.7366	0.08512	0.0:0.163:0.4103:0.4267	.	680	O43345	ZN208_HUMAN	K	780;680	ENSP00000380315:E780K	ENSP00000380315:E780K	E	-	1	0	0	ZNF208	21947338	21947338	0.000000	0.05858	0.352000	0.25734	0.210000	0.24377	-4.535000	0.00219	-0.123000	0.11745	0.280000	0.19369	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	1		2	2	2	0		0	0	53		53	56	1	2.060000	-20.000000	1	0.170000	NM_007153			23	21		258	239	0		1			0	0	53	0		9.999988e-01	0	0	0	0	0	0	23	258
DOT1L	84444	broad.mit.edu	37	19	2220181	2220181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	922					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTAATGCCCACGGTGCTG	0.627																																						ENST00000398665.3	1.000000	0.380000	9.700000e-01	5.200000e-01	0.700000	0.721923	0.700000	1.000000																										0				42						c.(2764-2766)gcC>gcT		DOT1-like histone H3K79 methyltransferase							48.0	57.0	54.0					19																	2220181		2042	4181	6223	SO:0001819	synonymous_variant	84444	0	0					g.chr19:2220181C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2766C>T	chr19.hg19:g.2220181C>T		0						p.A922A	NM_032482.2	NP_115871.1	1	2	3	2.010022	Q8TEK3	DOT1L_HUMAN		23	2802	+		Hepatocellular(1079;0.137)	O60379|Q96JL1	Silent	SNP	ENST00000398665.3	1	1	hg19	c.2766C>T	CCDS42460.1	0	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411334	0.42817	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.62	2.41	0.29592	4.62	2.41	0.29592	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-2.577	3.6293	0.08126	0.1783:0.5458:0.0:0.2758	.	.	.	.	L	709	.	.	P	+	2	0	0	DOT1L	2171181	2171181	1.000000	0.71417	0.190000	0.23270	0.917000	0.54804	1.439000	0.35013	0.366000	0.24427	0.462000	0.41574	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-15.216440	1	0.170000	NM_032482			12	12		200	198	0		1	0		0	0	41	0		9.991502e-01	1.877353e-01	0	0	0	13	0	12	200
DOT1L	84444	broad.mit.edu	37	19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1430					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTCTGCGGCGGCCGTG	0.746																																						ENST00000398665.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(4288-4290)gCg>gTg		DOT1-like histone H3K79 methyltransferase							13.0	20.0	18.0					19																	2226809		1897	4090	5987	SO:0001583	missense	84444	0	0					g.chr19:2226809C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4289C>T	chr19.hg19:g.2226809C>T	ENSP00000381657:p.Ala1430Val	0						p.A1430V	NM_032482.2	NP_115871.1	1	2	3	2.010022	Q8TEK3	DOT1L_HUMAN		27	4325	+		Hepatocellular(1079;0.137)	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	1	1	hg19	c.4289C>T	CCDS42460.1	1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188769	0.57909	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.41400	1.41;1.0	4.42	4.42	0.53409	4.42	4.42	0.53409	.	0.000000	0.49305	D	0.000148	T	0.61800	0.2376	M	0.64997	1.995	0.31257	N	0.693341	D;D	0.89917	1.0;0.999	D;D	0.78314	0.962;0.991	T	0.68530	-0.5384	10	0.87932	D	0	-12.0797	16.0032	0.80310	0.0:1.0:0.0:0.0	.	1430;1430	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1430;1430;310	ENSP00000381657:A1430V;ENSP00000407411:A310V	ENSP00000221482:A1430V	A	+	2	0	0	DOT1L	2177809	2177809	0.999000	0.42202	0.626000	0.29213	0.026000	0.11368	6.321000	0.72881	2.003000	0.58678	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	0		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_032482			46	44		194	191	0		1	0		0	0	30	0		1	1.720556e-01	0	0	0	4	0	46	194
DOT1L	84444	broad.mit.edu	37	19	2226885	2226885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	ENST00000398665.3	+	27	4401	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1455					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGCGGCGTCCTCCGCCC	0.756																																						ENST00000398665.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(4363-4365)gcG>gcA		DOT1-like histone H3K79 methyltransferase							8.0	11.0	10.0					19																	2226885		1781	3872	5653	SO:0001819	synonymous_variant	84444	1	114444	22				g.chr19:2226885G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4365G>A	chr19.hg19:g.2226885G>A		0						p.A1455A	NM_032482.2	NP_115871.1	1	2	3	2.010022	Q8TEK3	DOT1L_HUMAN		27	4401	+		Hepatocellular(1079;0.137)	O60379|Q96JL1	Silent	SNP	ENST00000398665.3	0	1	hg19	c.4365G>A	CCDS42460.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	0		2	2	2	0		0	0	10		10	9	1	2.060000	-20.000000	1	0.170000	NM_032482			39	37		126	124	0		1			0	0	10	0		1	0	0	0	0	0	0	39	126
ZNF208	7757	broad.mit.edu	37	19	22156630	22156630	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				AACCTTTGCCACATTCTTCAC	0.383																																						ENST00000397126.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999691	0.990000	1.000000																										0				113						c.(1204-1206)tgT>tgC		zinc finger protein 208							43.0	48.0	47.0					19																	22156630		1991	4208	6199	SO:0001819	synonymous_variant	7757	0	0					g.chr19:22156630A>G	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.1206T>C	chr19.hg19:g.22156630A>G		0					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.C402C	NM_007153.3	NP_009084.2	1	2	3	2.010022	O43345	ZN208_HUMAN		4	1354	-		all_lung(12;0.0961)|Lung NSC(12;0.103)		Silent	SNP	ENST00000397126.4	1	1	hg19	c.1206T>C	CCDS54240.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	1		2	2	2	0		0	0	72		72	90	1	2.060000	-20.000000	1	0.170000	NM_007153			40	38		279	262	1		1			0	0	72	0		1	0	0	0	0	0	0	40	279
ZNF257	113835	broad.mit.edu	37	19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACTACCCAGAGCAAAATGT	0.313																																						ENST00000594947.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(421-423)caG>caT		zinc finger protein 257							68.0	73.0	71.0					19																	22270975		2178	4290	6468	SO:0001583	missense	113835	0	0					g.chr19:22270975G>T	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.423G>T	chr19.hg19:g.22270975G>T	ENSP00000470209:p.Gln141His	0					ZNF257_ENST00000600162.1_3'UTR	p.Q141H	NM_033468.2	NP_258429.2	1	2	3	2.010022	Q9Y2Q1	ZN257_HUMAN		4	567	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	1	1	hg19	c.423G>T	CCDS46030.1	1	.	.	.	.	.	.	.	.	.	.	G	3.686	-0.064607	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	0.926	-0.301	0.12800	.	.	.	.	.	T	0.27169	0.0666	L	0.39085	1.19	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.24154	-1.0168	8	0.37606	T	0.19	.	2.7022	0.05152	0.4382:0.0:0.5618:0.0	.	141	Q9Y2Q1	ZN257_HUMAN	H	141	.	ENSP00000380312:Q141H	Q	+	3	2	2	ZNF257	22062815	22062815	0.012000	0.17670	0.045000	0.18777	0.427000	0.31564	-0.124000	0.10595	0.308000	0.22923	0.313000	0.20887	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				44	44		206	201	1		1	0		0	0	49	0		1	3.246753e-02	0	0	0	2	0	44	206
ZNF676	163223	broad.mit.edu	37	19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|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)				TTCTTCACATTTGTAGGGCTT	0.423																																						ENST00000397121.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				67						c.(1180-1182)aAa>aCa		zinc finger protein 676							76.0	79.0	78.0					19																	22363338		2126	4263	6389	SO:0001583	missense	163223	0	0					g.chr19:22363338T>G	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.1181A>C	chr19.hg19:g.22363338T>G	ENSP00000380310:p.Lys394Thr	0						p.K394T	NM_001001411.2	NP_001001411.2	1	2	3	2.010022	Q8N7Q3	ZN676_HUMAN		3	1498	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	1	1	hg19	c.1181A>C	CCDS42539.1	1	.	.	.	.	.	.	.	.	.	.	.	5.934	0.356324	0.11239	.	.	ENSG00000196109	ENST00000397121	T	0.58060	0.36	0.81	0.81	0.18732	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54351	0.1853	L	0.28740	0.885	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39078	-0.9631	9	0.59425	D	0.04	.	4.4263	0.11505	0.0:0.0:0.3425:0.6574	.	394	Q8N7Q3	ZN676_HUMAN	T	394	ENSP00000380310:K394T	ENSP00000380310:K394T	K	-	2	0	0	ZNF676	22155178	22155178	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.058000	0.03482	0.156000	0.19299	0.155000	0.16302	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	0		2	2	2	0		0	0	126		126	130	1	2.060000	-20.000000	1	0.170000	NM_001001411			67	67		424	393	1		1			0	0	126	0		1	0	0	0	0	0	0	67	424
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				AAAGCTTTCCCGCATTCTTCA	0.408																																						ENST00000397121.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				67						c.(1027-1029)Ggg>Agg		zinc finger protein 676							81.0	88.0	86.0					19																	22363492		2179	4283	6462	SO:0001583	missense	163223	8	121300	41				g.chr19:22363492C>T	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.1027G>A	chr19.hg19:g.22363492C>T	ENSP00000380310:p.Gly343Arg	0						p.G343R	NM_001001411.2	NP_001001411.2	1	2	3	2.010022	Q8N7Q3	ZN676_HUMAN		3	1344	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	1	1	hg19	c.1027G>A	CCDS42539.1	1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137376	0.37728	.	.	ENSG00000196109	ENST00000397121	T	0.01484	4.84	0.85	0.85	0.18980	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.84082	2.675	0.29973	N	0.818377	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	343	Q8N7Q3	ZN676_HUMAN	R	343	ENSP00000380310:G343R	ENSP00000380310:G343R	G	-	1	0	0	ZNF676	22155332	22155332	0.057000	0.20700	0.002000	0.10522	0.002000	0.02628	0.660000	0.25009	0.192000	0.20272	0.195000	0.17529	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1		2	2	2	0		0	0	111		111	87	1	2.060000	-2.540644	1	0.170000	NM_001001411			75	72		507	350	1		1			0	0	111	0		1	0	0	0	0	0	0	75	507
SF3A2	8175	broad.mit.edu	37	19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A	rs575076689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	233	Pro-rich.				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)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		GTGAAGCGGCCTCCACCCCCG	0.677																																						ENST00000221494.5	1.000000	0.840000	1	9.900000e-01	0.990000	0.987309	0.990000	1.000000																										0				4						c.(697-699)cCt>cAt		splicing factor 3a, subunit 2, 66kDa																																				SO:0001583	missense	8175	0	0					g.chr19:2247848C>A	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.698C>A	chr19.hg19:g.2247848C>A	ENSP00000221494:p.Pro233His	0					MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	p.P233H	NM_007165.4	NP_009096.2	1	2	3	2.010022	Q15428	SF3A2_HUMAN		9	1116	+		Hepatocellular(1079;0.137)	B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	1	1	hg19	c.698C>A	CCDS12084.1	1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724207	0.68959	.	.	ENSG00000104897	ENST00000221494	T	0.49720	0.77	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.467	16.1438	0.81548	0.0:1.0:0.0:0.0	.	233	Q15428	SF3A2_HUMAN	H	233	ENSP00000221494:P233H	ENSP00000221494:P233H	P	+	2	0	0	SF3A2	2198848	2198848	0.996000	0.38824	0.997000	0.53966	0.769000	0.43574	4.243000	0.58721	2.145000	0.66743	0.462000	0.41574	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000				37	37		340	335	0		1	1		0	0	48	0		1	9.999990e-01	0	22	0	174	0	37	340
AMH	268	broad.mit.edu	37	19	2249555	2249555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.4	+	1	246	c.224C>T	c.(223-225)gCt>gTt	p.A75V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	75					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		GTGGTGGGGGCTCTAAGCGCC	0.701									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999631	0.990000	1.000000																										0				2						c.(223-225)gCt>gTt		anti-Mullerian hormone							8.0	11.0	10.0					19																	2249555		2156	4280	6436	SO:0001583	missense	268	0	0		Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	g.chr19:2249555C>T	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.224C>T	chr19.hg19:g.2249555C>T	ENSP00000221496:p.Ala75Val	0					MIR4321_ENST00000592276.1_RNA	p.A75V	NM_000479.3	NP_000470	1	2	3	2.010022	P03971	MIS_HUMAN		1	246	+		Hepatocellular(1079;0.137)	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	0	1	hg19	c.224C>T	CCDS12085.1	1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307984	0.01342	.	.	ENSG00000104899	ENST00000221496	D	0.83419	-1.72	3.75	-1.67	0.08238	3.75	-1.67	0.08238	.	1.190810	0.06312	N	0.702866	T	0.66076	0.2753	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.34782	T	0.22	-1.1031	6.9978	0.24793	0.0:0.5399:0.2022:0.2578	.	75	P03971	MIS_HUMAN	V	75	ENSP00000221496:A75V	ENSP00000221496:A75V	A	+	2	0	0	AMH	2200555	2200555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-1.091000	0.03065	-1.598000	0.00824	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.999990	1	0.170000	NM_000479			13	13		51	51	0		1	0		0	0	9	0		9.997251e-01	0	0	0	0	1	0	13	51
JSRP1	126306	broad.mit.edu	37	19	2255205	2255205	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	37	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		ACAAGGGTACCTGAAGCCCTG	0.652																																						ENST00000300961.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				6						c.(109-111)Gcg>Tcg		junctional sarcoplasmic reticulum protein 1							38.0	40.0	39.0					19																	2255205		2200	4298	6498	SO:0001630	splice_region_variant	126306	0	0					g.chr19:2255205C>A	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.109+1G>T	chr19.hg19:g.2255205C>A		0					JSRP1_ENST00000586471.2_Splice_Site_p.A37S	p.A37S	NM_144616.3	NP_653217.1	1	2	3	2.010022	Q96MG2	JSPR1_HUMAN		2	173	-				Splice_Site	SNP	ENST00000300961.6	1	0	hg19	c.109G>T	CCDS12086.1	1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393024	0.42410	.	.	ENSG00000167476	ENST00000300961	T	0.18657	2.2	3.63	3.63	0.41609	3.63	3.63	0.41609	.	1.872170	0.03542	N	0.224035	T	0.16300	0.0392	N	0.24115	0.695	0.26197	N	0.979504	B	0.30281	0.275	B	0.22601	0.04	T	0.11641	-1.0579	9	.	.	.	.	10.9866	0.47526	0.0:1.0:0.0:0.0	.	37	Q96MG2	JSPR1_HUMAN	S	37	ENSP00000300961:A37S	.	A	-	1	0	0	JSRP1	2206205	2206205	0.992000	0.36948	0.300000	0.25030	0.278000	0.26855	3.501000	0.53325	2.022000	0.59522	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_144616	Missense_Mutation		25	25		128	127	0		1	0		0	0	29	0		9.999999e-01	9.731540e-01	0	0	0	33	0	25	128
C19orf35	374872	broad.mit.edu	37	19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T	rs557687551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	244										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CAGGGCGCCCCGGGCAGTGTG	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		14555	0.0		0.0	False		,,,				2504	0.001					ENST00000342063.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				8						c.(730-732)Ggg>Agg		chromosome 19 open reading frame 35							8.0	9.0	9.0					19																	2276371		2045	4060	6105	SO:0001583	missense	374872	15	118318	39				g.chr19:2276371C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.730G>A	chr19.hg19:g.2276371C>T	ENSP00000345102:p.Gly244Arg	0						p.G244R	NM_198532.2	NP_940934.1	1	2	3	2.010022	Q6ZS72	CS035_HUMAN		4	823	-				Missense_Mutation	SNP	ENST00000342063.3	1	1	hg19	c.730G>A	CCDS12087.1	1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533116	0.13188	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.96	2.96	0.34315	2.96	2.96	0.34315	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	P	0.36599	0.56	B	0.25140	0.058	T	0.28459	-1.0043	9	0.22706	T	0.39	.	10.6612	0.45704	0.0:1.0:0.0:0.0	.	244	Q6ZS72	CS035_HUMAN	R	244	ENSP00000345102:G244R	ENSP00000345102:G244R	G	-	1	0	0	C19orf35	2227371	2227371	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.572000	0.05881	1.500000	0.48636	0.561000	0.74099	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_198532			18	18		81	79	1		1	0		0	0	21	0		9.999886e-01	0	0	0	0	1	0	18	81
C19orf35	374872	broad.mit.edu	37	19	2280862	2280862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	23										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GGTTGCTATACGTGGGCTGAG	0.697																																						ENST00000342063.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(67-69)acG>acA		chromosome 19 open reading frame 35							25.0	26.0	25.0					19																	2280862		2199	4298	6497	SO:0001819	synonymous_variant	374872	1	121060	31				g.chr19:2280862C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.69G>A	chr19.hg19:g.2280862C>T		0						p.T23T	NM_198532.2	NP_940934.1	1	2	3	2.010022	Q6ZS72	CS035_HUMAN		2	162	-				Silent	SNP	ENST00000342063.3	1	1	hg19	c.69G>A	CCDS12087.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_198532			32	31		112	111	0		1	0		0	0	17	0		1	6.311334e-01	0	0	0	9	0	32	112
ZNF676	163223	broad.mit.edu	37	19	22363697	22363697	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|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)				CTTCAGCATGAATTGCCTTAT	0.393																																						ENST00000397121.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(820-822)atT>atC		zinc finger protein 676							84.0	90.0	88.0					19																	22363697		2129	4261	6390	SO:0001819	synonymous_variant	163223	0	0					g.chr19:22363697A>G	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.822T>C	chr19.hg19:g.22363697A>G		0						p.I274I	NM_001001411.2	NP_001001411.2	1	2	3	2.010022	Q8N7Q3	ZN676_HUMAN		3	1139	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	A8MVX5	Silent	SNP	ENST00000397121.2	1	1	hg19	c.822T>C	CCDS42539.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1		2	2	2	0		0	0	105		105	108	1	2.060000	-20.000000	1	0.170000	NM_001001411			80	75		370	329	1		1			0	0	105	0		1	0	0	0	0	0	0	80	370
ZNF492	57615	broad.mit.edu	37	19	22817139	22817139	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22817139G>A	ENST00000456783.2	+	0	14					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 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)			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)				TTTGTCTCTCGCTGCAGTCGG	0.602																																						ENST00000456783.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21								zinc finger protein 492																																						57615	0	0					g.chr19:22817139G>A	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.-231G>A	chr19.hg19:g.22817139G>A		0							NM_020855.2	NP_065906.1	1	2	3	2.010022	Q9P255	ZN492_HUMAN		0	14	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Q08EI7|Q08EI8	Translation_Start_Site	SNP	ENST00000456783.2	0	1	hg19		CCDS46032.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_020855			30	28		125	119	0		1			0	0	32	0		1	0	0	0	0	0	0	30	125
ZNF492	57615	broad.mit.edu	37	19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	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)			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)				GAAGAATGTGGCAAAGCTTTT	0.383																																						ENST00000456783.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.998279	0.990000	1.000000																										0				21						c.(1195-1197)gGc>gAc		zinc finger protein 492							48.0	51.0	50.0					19																	22847667		2147	4262	6409	SO:0001583	missense	57615	3	121074	30				g.chr19:22847667G>A	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.1196G>A	chr19.hg19:g.22847667G>A	ENSP00000413660:p.Gly399Asp	0					CTC-457E21.9_ENST00000601860.1_RNA	p.G399D	NM_020855.2	NP_065906.1	1	2	3	2.010022	Q9P255	ZN492_HUMAN		4	1440	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	1	1	hg19	c.1196G>A	CCDS46032.1	1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.628231	0.46944	.	.	ENSG00000229676	ENST00000456783	T	0.01430	4.9	1.12	1.12	0.20585	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.45051	1.395	0.38026	D	0.935016	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	9	0.66056	D	0.02	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	399	Q9P255	ZN492_HUMAN	D	399	ENSP00000413660:G399D	ENSP00000413660:G399D	G	+	2	0	0	ZNF492	22639507	22639507	0.988000	0.35896	0.076000	0.20297	0.077000	0.17291	2.129000	0.42055	0.269000	0.21961	0.274000	0.19336	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	0		2	2	2	0		0	0	66		66	83	1	2.060000	-20.000000	1	0.170000	NM_020855			38	38		295	277	1		1			0	0	66	0		1	0	0	0	0	0	0	38	295
LINGO3	645191	broad.mit.edu	37	19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						ACGCTGCACGATCCACAGCAG	0.697																																						ENST00000585527.1	1.000000	0.240000	9.300000e-01	3.900000e-01	0.600000	0.632106	0.600000	1.000000																										0				2						c.(1087-1089)aTc>aCc		leucine rich repeat and Ig domain containing 3							24.0	26.0	25.0					19																	2290688		2068	4182	6250	SO:0001583	missense	645191	0	0					g.chr19:2290688A>G	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1088T>C	chr19.hg19:g.2290688A>G	ENSP00000467753:p.Ile363Thr	0					LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T	p.I363T			1	2	3	2.010022	P0C6S8	LIGO3_HUMAN		1	1335	-				Missense_Mutation	SNP	ENST00000585527.1	0	1	hg19	c.1088T>C	CCDS45905.1	0	.	.	.	.	.	.	.	.	.	.	a	15.84	2.950895	0.53186	.	.	ENSG00000220008	ENST00000404279	T	0.57107	0.42	4.3	4.3	0.51218	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.56645	0.1999	M	0.78801	2.425	0.58432	D	0.999999	B	0.20671	0.047	B	0.28385	0.089	T	0.61197	-0.7111	9	0.87932	D	0	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	363	P0C6S8	LIGO3_HUMAN	T	363	ENSP00000384979:I363T	ENSP00000384979:I363T	I	-	2	0	0	LINGO3	2241688	2241688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	1.576000	0.49790	0.379000	0.24179	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-12.039470	1	0.170000	NM_001101391			6	6		124	121	0		1			0	0	31	0		9.635547e-01	0	0	0	0	0	0	6	124
ZNF492	57615	broad.mit.edu	37	19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	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)			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)				ATAATTCATACTGGAGAGAAA	0.378																																						ENST00000456783.2	1.000000	0.540000	1	6.800000e-01	0.840000	0.838053	0.840000	1.000000																										0				21						c.(1246-1248)aCt>aAt		zinc finger protein 492							39.0	41.0	40.0					19																	22847718		2114	4253	6367	SO:0001583	missense	57615	0	0					g.chr19:22847718C>A	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.1247C>A	chr19.hg19:g.22847718C>A	ENSP00000413660:p.Thr416Asn	0					CTC-457E21.9_ENST00000601860.1_RNA	p.T416N	NM_020855.2	NP_065906.1	1	2	3	2.010022	Q9P255	ZN492_HUMAN		4	1491	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	1	1	hg19	c.1247C>A	CCDS46032.1	0	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747685	0.49257	.	.	ENSG00000229676	ENST00000456783	T	0.26067	1.76	1.12	1.12	0.20585	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.53729	1.69	0.32544	N	0.533216	P	0.47545	0.897	P	0.55303	0.773	T	0.46470	-0.9189	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	416	Q9P255	ZN492_HUMAN	N	416	ENSP00000413660:T416N	ENSP00000413660:T416N	T	+	2	0	0	ZNF492	22639558	22639558	0.714000	0.27936	0.069000	0.20011	0.069000	0.16628	1.214000	0.32419	0.269000	0.21961	0.274000	0.19336	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	0		2	2	2	0		0	0	70		70	90	1	2.060000	-7.375150	1	0.170000	NM_020855			23	23		309	243	0		1			0	0	70	0		9.999937e-01	0	0	0	0	0	0	23	309
ZNF99	7652	broad.mit.edu	37	19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000596209.1	-	4	1274	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)				TTTGTAGGGTTTCTGTCCAGT	0.363																																						ENST00000596209.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(1183-1185)aAa>aCa		zinc finger protein 99							67.0	72.0	70.0					19																	22941527		2034	4221	6255	SO:0001583	missense	7652	0	0					g.chr19:22941527T>G	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.1184A>C	chr19.hg19:g.22941527T>G	ENSP00000472969:p.Lys395Thr	0					ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	p.K395T	NM_001080409.2	NP_001073878.2	1	2	3	2.010022	A8MXY4	ZNF99_HUMAN		4	1274	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	M0R335	Missense_Mutation	SNP	ENST00000596209.1	1	1	hg19	c.1184A>C	CCDS59369.1	1	.	.	.	.	.	.	.	.	.	.	N	12.39	1.924104	0.34002	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	1.28	0.21552	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.76727	2.345	0.32529	N	0.535216	D	0.53462	0.96	P	0.57204	0.815	T	0.53107	-0.8485	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	T	304	ENSP00000380293:K304T	ENSP00000380293:K304T	K	-	2	0	0	ZNF99	22733367	22733367	0.155000	0.22806	0.025000	0.17156	0.165000	0.22458	-0.043000	0.12043	0.566000	0.29273	0.325000	0.21440	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	1	0	1		2	2	2	0		0	0	80		80	81	1	2.060000	-20.000000	1	0.170000	XM_065124			71	68		283	261	1		1			0	0	80	0		1	0	0	0	0	0	0	71	283
SPPL2B	56928	broad.mit.edu	37	19	2334702	2334702	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|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)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.P56P(1)					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)		CCCATCTTCCGCACGACCTCA	0.677																																						ENST00000452401.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P56P(1)	lung(1)									signal peptide peptidase like 2B							34.0	37.0	36.0					19																	2334702		1983	4139	6122			56928	2	120764	22				g.chr19:2334702G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			chr19.hg19:g.2334702G>A		0									1	2	3	2.010022	Q8TCT7	SPP2B_HUMAN		0	248	+		Hepatocellular(1079;0.137)	D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	0	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.041230	1	0.170000	NM_020172			26	25		91	88	0		1	1		0	0	24	0		1	9.999992e-01	0	19	0	71	0	26	91
ZNF99	7652	broad.mit.edu	37	19	22941668	22941668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941668T>G	ENST00000596209.1	-	4	1133	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K257T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)				GCTAAAAGCTTTGCCACATTC	0.373																																						ENST00000596209.1	1.000000	0.240000	5.900000e-01	3.200000e-01	0.420000	0.476274	0.420000	0.400000																										0				124						c.(1042-1044)aAa>aCa		zinc finger protein 99							52.0	56.0	55.0					19																	22941668		1996	4203	6199	SO:0001583	missense	7652	0	0					g.chr19:22941668T>G	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.1043A>C	chr19.hg19:g.22941668T>G	ENSP00000472969:p.Lys348Thr	0					ZNF99_ENST00000397104.3_Missense_Mutation_p.K257T	p.K348T	NM_001080409.2	NP_001073878.2	1	2	3	2.010022	A8MXY4	ZNF99_HUMAN		4	1133	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	M0R335	Missense_Mutation	SNP	ENST00000596209.1	0	1	hg19	c.1043A>C	CCDS59369.1	0	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778440	0.31502	.	.	ENSG00000213973	ENST00000397104	T	0.27890	1.64	1.52	0.405	0.16361	1.52	0.405	0.16361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33854	-0.9852	9	0.66056	D	0.02	.	2.9213	0.05770	0.0:0.1716:0.2563:0.572	.	257	A8MXY4	ZNF99_HUMAN	T	257	ENSP00000380293:K257T	ENSP00000380293:K257T	K	-	2	0	0	ZNF99	22733508	22733508	0.009000	0.17119	0.001000	0.08648	0.095000	0.18619	1.634000	0.37123	-0.076000	0.12775	0.370000	0.22315	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	0	0	1		2	2	2	0		0	0	91		91	98	1	2.060000	-14.468270	1	0.170000	XM_065124			14	13		393	358	0		1			0	0	91	0		9.995524e-01	0	0	0	0	0	0	14	393
ZNF91	7644	broad.mit.edu	37	19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	278					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTGAGGACCATAGAAA	0.383																																						ENST00000300619.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(832-834)tCc>tAc		zinc finger protein 91							107.0	116.0	113.0					19																	23544948		2193	4296	6489	SO:0001583	missense	7644	0	0					g.chr19:23544948G>T	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.833C>A	chr19.hg19:g.23544948G>T	ENSP00000300619:p.Ser278Tyr	0					ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	p.S278Y	NM_003430.2	NP_003421.2	1	2	3	2.010022	Q05481	ZNF91_HUMAN		4	1038	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	1	1	hg19	c.833C>A	CCDS42541.1	1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.904201	0.00512	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07908	3.15;3.15	1.62	-3.24	0.05094	1.62	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.67569	2.06	0.09310	N	1	B;B	0.28998	0.193;0.23	B;B	0.16722	0.009;0.016	T	0.51826	-0.8656	9	0.02654	T	1	.	0.4085	0.00437	0.1996:0.2495:0.2755:0.2754	.	246;278	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	278;246	ENSP00000300619:S278Y;ENSP00000380272:S246Y	ENSP00000300619:S278Y	S	-	2	0	0	ZNF91	23336788	23336788	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.340000	0.02650	-2.012000	0.00950	-1.252000	0.01501	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_003430			87	84		456	445	1		1	1		0	0	106	0		1	8.695177e-01	0	3	0	18	0	87	456
ZNF91	7644	broad.mit.edu	37	19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	214					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTTTCACATTCTTTACATTT	0.328																																						ENST00000300619.7	1.000000	0.240000	6.600000e-01	3.400000e-01	0.470000	0.515977	0.470000	0.440000																										0										c.(640-642)gAa>gCa		zinc finger protein 91							74.0	77.0	76.0					19																	23545140		2129	4266	6395	SO:0001583	missense	7644	0	0					g.chr19:23545140T>G	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.641A>C	chr19.hg19:g.23545140T>G	ENSP00000300619:p.Glu214Ala	0					ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	p.E214A	NM_003430.2	NP_003421.2	1	2	3	2.010022	Q05481	ZNF91_HUMAN		4	846	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	1	1	hg19	c.641A>C	CCDS42541.1	0	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469727	0.12461	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.64	0.397	0.16314	1.64	0.397	0.16314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24470	0.0593	M	0.88377	2.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.3699	0.21475	0.0:0.0:0.2523:0.7477	.	182;214	Q05481-2;Q05481	.;ZNF91_HUMAN	A	214;182	ENSP00000300619:E214A;ENSP00000380272:E182A	ENSP00000300619:E214A	E	-	2	0	0	ZNF91	23336980	23336980	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.261000	0.18442	-0.159000	0.11021	0.147000	0.16070	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-12.500230	1	0.170000	NM_003430			11	10		283	278	0		1	1		0	0	57	0		9.982249e-01	9.864925e-02	0	2	0	11	0	11	283
ZNF91	7644	broad.mit.edu	37	19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	129					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTCATCCACACTTTTACA	0.348																																						ENST00000300619.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(385-387)gTg>gCg		zinc finger protein 91							75.0	80.0	78.0					19																	23545395		2154	4280	6434	SO:0001583	missense	7644	0	0					g.chr19:23545395A>G	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.386T>C	chr19.hg19:g.23545395A>G	ENSP00000300619:p.Val129Ala	0					ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	p.V129A	NM_003430.2	NP_003421.2	1	2	3	2.010022	Q05481	ZNF91_HUMAN		4	591	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	1	1	hg19	c.386T>C	CCDS42541.1	1	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.140824	0.01728	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.44;3.36	0.987	0.987	0.19790	0.987	0.987	0.19790	.	.	.	.	.	T	0.16257	0.0391	M	0.87269	2.87	0.09310	N	1	B;D	0.69078	0.178;0.997	B;D	0.63283	0.108;0.913	T	0.29882	-0.9997	9	0.05525	T	0.97	.	4.0615	0.09841	1.0:0.0:0.0:0.0	.	97;129	Q05481-2;Q05481	.;ZNF91_HUMAN	A	129;97	ENSP00000300619:V129A;ENSP00000380272:V97A	ENSP00000300619:V129A	V	-	2	0	0	ZNF91	23337235	23337235	0.001000	0.12720	0.017000	0.16124	0.336000	0.28762	1.320000	0.33666	0.368000	0.24481	0.147000	0.16070	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	0	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_003430			69	67		386	382	1		1	1		0	0	112	0		1	8.056873e-01	0	4	0	15	0	69	386
ZNF675	171392	broad.mit.edu	37	19	23836530	23836530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23836530C>T	ENST00000359788.4	-	4	1373	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	402					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAAGCTTTGCCACATTCTTT	0.393																																						ENST00000359788.4	1.000000	0.270000	6.700000e-01	3.700000e-01	0.490000	0.535591	0.490000	0.460000																										0				27						c.(1204-1206)gGc>gAc		zinc finger protein 675							62.0	63.0	63.0					19																	23836530		2203	4300	6503	SO:0001583	missense	171392	0	0					g.chr19:23836530C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1205G>A	chr19.hg19:g.23836530C>T	ENSP00000352836:p.Gly402Asp	0					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	p.G402D	NM_138330.2	NP_612203.2	1	2	3	2.010022	Q8TD23	ZN675_HUMAN		4	1373	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	1	1	hg19	c.1205G>A	CCDS32981.1	0	.	.	.	.	.	.	.	.	.	.	.	12.56	1.975174	0.34848	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.21324	0.655	0.30822	N	0.737711	P	0.51791	0.948	P	0.52159	0.691	T	0.22347	-1.0219	9	0.87932	D	0	.	8.3949	0.32550	0.0:1.0:0.0:0.0	.	402	Q8TD23	ZN675_HUMAN	D	402	ENSP00000352836:G402D	ENSP00000352836:G402D	G	-	2	0	0	ZNF675	23628370	23628370	0.046000	0.20272	0.076000	0.20297	0.071000	0.16799	0.091000	0.15046	0.482000	0.27582	0.484000	0.47621	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.076705	1	0.170000	NM_138330			14	14		339	330	0		1	0		0	0	61	0		9.997216e-01	2.080668e-01	0	0	0	20	0	14	339
ZNF675	171392	broad.mit.edu	37	19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	78					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAATGAGAACACATTACTGAA	0.289																																						ENST00000359788.4	1.000000	0.700000	1	8.900000e-01	0.990000	0.961499	0.990000	1.000000																										0				27						c.(232-234)Tgt>Ggt		zinc finger protein 675							25.0	27.0	26.0					19																	23837503		2187	4272	6459	SO:0001583	missense	171392	0	0					g.chr19:23837503A>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.232T>G	chr19.hg19:g.23837503A>C	ENSP00000352836:p.Cys78Gly	0					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	p.C78G	NM_138330.2	NP_612203.2	1	2	3	2.010022	Q8TD23	ZN675_HUMAN		4	400	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	1	1	hg19	c.232T>G	CCDS32981.1	1	.	.	.	.	.	.	.	.	.	.	.	5.278	0.236659	0.10023	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	0.458	0.458	0.16670	.	.	.	.	.	T	0.10423	0.0255	M	0.76170	2.325	0.19575	N	0.999961	B	0.17667	0.023	B	0.20577	0.03	T	0.33163	-0.9879	8	0.25751	T	0.34	.	.	.	.	.	78	Q8TD23	ZN675_HUMAN	G	78	ENSP00000352836:C78G	ENSP00000352836:C78G	C	-	1	0	0	ZNF675	23629343	23629343	0.312000	0.24545	0.016000	0.15963	0.014000	0.08584	0.397000	0.20883	0.407000	0.25591	0.397000	0.26171	TGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_138330			18	18		174	171	0		1	0		0	0	39	0		9.999840e-01	4.959091e-01	0	0	0	17	0	18	174
TMPRSS9	360200	broad.mit.edu	37	19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A	rs368830380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CAGCCTTGTCGTCCTCACCCT	0.592																																						ENST00000332578.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(118-120)Gtc>Atc		transmembrane protease, serine 9		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	117.0	89.0	98.0		118	-8.8	0.0	19		98	0,8600		0,0,4300	no	missense	TMPRSS9	NM_182973.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	40/1060	2389901	2,13004	2203	4300	6503	SO:0001583	missense	360200	1	121412	35				g.chr19:2389901G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.118G>A	chr19.hg19:g.2389901G>A	ENSP00000330264:p.Val40Ile	0						p.V40I	NM_182973.1	NP_892018.1	1	2	3	2.010022	Q7Z410	TMPS9_HUMAN		1	118	+			Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	1	1	hg19	c.118G>A	CCDS12088.1	1	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369927	0.05069	4.54E-4	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87571	-2.27	4.39	-8.77	0.00827	4.39	-8.77	0.00827	.	2.144020	0.02082	N	0.052415	T	0.67730	0.2924	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	5.5426	0.17045	0.1342:0.1864:0.5873:0.0922	.	40;40	Q7Z410;E7EMP4	TMPS9_HUMAN;.	I	40	ENSP00000330264:V40I	ENSP00000330264:V40I	V	+	1	0	0	TMPRSS9	2340901	2340901	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.757000	0.01811	-3.156000	0.00229	-1.459000	0.01027	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-19.999990	1	0.170000	NM_182973			54	54		315	308	1		1			0	0	91	0		1	0	0	0	0	0	0	54	315
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393																																						ENST00000359788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(28-30)gCc>gTc		zinc finger protein 675							94.0	101.0	99.0					19																	23845935		2203	4300	6503	SO:0001583	missense	171392	0	0					g.chr19:23845935G>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.29C>T	chr19.hg19:g.23845935G>A	ENSP00000352836:p.Ala10Val	0					ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V	p.A10V	NM_138330.2	NP_612203.2	1	2	3	2.010022	Q8TD23	ZN675_HUMAN		2	197	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	1	1	hg19	c.29C>T	CCDS32981.1	1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561883	0.27915	.	.	ENSG00000197372	ENST00000359788	T	0.03301	3.98	0.926	0.926	0.19430	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.08268	0.0206	M	0.83312	2.635	0.09310	N	0.999999	P	0.35456	0.502	B	0.41619	0.361	T	0.18304	-1.0341	9	0.51188	T	0.08	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	10	Q8TD23	ZN675_HUMAN	V	10	ENSP00000352836:A10V	ENSP00000352836:A10V	A	-	2	0	0	ZNF675	23637775	23637775	0.198000	0.23374	0.049000	0.19019	0.050000	0.14768	1.691000	0.37721	0.308000	0.22923	0.313000	0.20887	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_138330			125	123		591	569	1		1	0		0	0	160	0		1	4.207468e-01	0	0	0	8	0	125	591
TMPRSS9	360200	broad.mit.edu	37	19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	96					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTTTCTGCTGCGACCCCTCCA	0.642																																						ENST00000332578.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999356	0.990000	1.000000																										0				29						c.(286-288)Cga>Tga		transmembrane protease, serine 9							40.0	34.0	36.0					19																	2399065		2203	4300	6503	SO:0001587	stop_gained	360200	1	121406	31				g.chr19:2399065C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.286C>T	chr19.hg19:g.2399065C>T	ENSP00000330264:p.Arg96*	0						p.R96*	NM_182973.1	NP_892018.1	1	2	3	2.010022	Q7Z410	TMPS9_HUMAN		3	286	+			Q6ZND6|Q7Z411	Nonsense_Mutation	SNP	ENST00000332578.3	0	1	hg19	c.286C>T	CCDS12088.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607283	0.87157	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.34	2.08	0.27032	4.34	2.08	0.27032	.	1.477610	0.04838	N	0.439921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0588	0.25113	0.0:0.7286:0.1735:0.0979	.	.	.	.	X	130;96	.	ENSP00000330264:R96X	R	+	1	2	2	TMPRSS9	2350065	2350065	0.001000	0.12720	0.034000	0.17996	0.869000	0.49853	1.317000	0.33631	0.372000	0.24591	0.456000	0.33151	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_182973			18	18		99	96	1		1	0		0	0	21	0		9.999864e-01	0	0	0	0	1	0	18	99
TMPRSS9	360200	broad.mit.edu	37	19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	226	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAACAAGGAGCACTTCTGTGG	0.617																																						ENST00000332578.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(676-678)Cac>Tac		transmembrane protease, serine 9							82.0	80.0	81.0					19																	2405479		2203	4300	6503	SO:0001583	missense	360200	0	0					g.chr19:2405479C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.676C>T	chr19.hg19:g.2405479C>T	ENSP00000330264:p.His226Tyr	0						p.H226Y	NM_182973.1	NP_892018.1	1	2	3	2.010022	Q7Z410	TMPS9_HUMAN		6	676	+			Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	1	1	hg19	c.676C>T	CCDS12088.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467424	0.84533	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60548	0.18	4.43	4.43	0.53597	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000112	T	0.70945	0.3282	L	0.49513	1.565	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74836	-0.3529	10	0.87932	D	0	.	15.9549	0.79880	0.0:1.0:0.0:0.0	.	226;260	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Y	260;226	ENSP00000330264:H226Y	ENSP00000330264:H226Y	H	+	1	0	0	TMPRSS9	2356479	2356479	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.628000	0.83189	2.188000	0.69820	0.484000	0.47621	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_182973			64	62		342	330	1		1			0	0	95	0		1	0	0	0	0	0	0	64	342
ZNF681	148213	broad.mit.edu	37	19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A	rs543743392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTGAA	0.388																																						ENST00000402377.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(964-966)tCc>tTc		zinc finger protein 681							116.0	113.0	114.0					19																	23927387		2203	4300	6503	SO:0001583	missense	148213	0	0					g.chr19:23927387G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.965C>T	chr19.hg19:g.23927387G>A	ENSP00000384000:p.Ser322Phe	0					ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	p.S322F	NM_138286.2	NP_612143.2	1	2	3	2.010022	Q96N22	ZN681_HUMAN		4	1106	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	1	1	hg19	c.965C>T	CCDS12414.2	1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263283	0.01445	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.16196	2.36;2.36	0.946	0.946	0.19549	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.66506	2.035	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26189	-1.0110	9	0.25106	T	0.35	.	4.1271	0.10133	0.0:0.0:0.5976:0.4023	.	322	Q96N22	ZN681_HUMAN	F	322;253	ENSP00000384000:S322F;ENSP00000378783:S253F	ENSP00000378783:S253F	S	-	2	0	0	ZNF681	23719227	23719227	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-6.620000	0.00059	0.798000	0.33994	0.313000	0.20887	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_138286			58	56		301	286	1		1	0		0	0	82	0		1	2.693941e-02	0	0	0	2	0	58	301
LMNB2	84823	broad.mit.edu	37	19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	rs148936043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000582871.1	-	5	726	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	LMNB2_ENST00000325327.3_Missense_Mutation_p.R234W	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	214	Linker 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TGCCGCCGCCGCGTCTCCCGC	0.682																																						ENST00000582871.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				18						c.(640-642)Cgg>Tgg		lamin B2		G	TRP/ARG	0,4392		0,0,2196	22.0	25.0	24.0		640	2.5	0.3	19	dbSNP_134	24	2,8574		0,2,4286	yes	missense	LMNB2	NM_032737.2	101	0,2,6482	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	214/601	2435154	2,12966	2196	4288	6484	SO:0001583	missense	84823	16	120352	43				g.chr19:2435154G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.640C>T	chr19.hg19:g.2435154G>A	ENSP00000462730:p.Arg214Trp	0					LMNB2_ENST00000325327.3_Missense_Mutation_p.R234W	p.R214W	NM_032737.3	NP_116126.3	1	2	3	2.010022	Q03252	LMNB2_HUMAN		5	726	-		Hepatocellular(1079;0.137)	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	1	1	hg19	c.640C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731514	0.69189	0.0	2.33E-4	ENSG00000176619	ENST00000325327	.	.	.	4.83	2.52	0.30459	4.83	2.52	0.30459	Filament (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91818	3.245	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.83573	0.0113	9	0.87932	D	0	.	10.8341	0.46677	0.0:0.0:0.4591:0.5409	.	214	Q03252	LMNB2_HUMAN	W	214	.	ENSP00000327054:R214W	R	-	1	2	2	LMNB2	2386154	2386154	0.998000	0.40836	0.348000	0.25681	0.996000	0.88848	2.629000	0.46485	1.011000	0.39340	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	55		55	52	1	2.060000	-5.731978	1	0.170000	NM_032737			48	49		297	289	1		1	1		0	0	55	0		1	9.999602e-01	0	37	0	57	0	48	297
GNG7	2788	broad.mit.edu	37	19	2515062	2515062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	55					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498																																						ENST00000382159.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(163-165)tcG>tcA		guanine nucleotide binding protein (G protein), gamma 7							77.0	83.0	81.0					19																	2515062		2203	4300	6503	SO:0001819	synonymous_variant	2788	1	121412	33				g.chr19:2515062C>T	AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.165G>A	chr19.hg19:g.2515062C>T		0						p.S55S	NM_052847.2	NP_443079.1	1	2	3	2.010022	O60262	GBG7_HUMAN		5	362	-		Hepatocellular(1079;0.137)	B2R496	Silent	SNP	ENST00000382159.3	1	1	hg19	c.165G>A	CCDS12091.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.675459	1	0.170000	NM_052847			101	100		461	452	1		1	1		0	0	74	0		1	9.997479e-01	0	7	0	50	0	101	461
DIRAS1	148252	broad.mit.edu	37	19	2717235	2717235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	190					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCTTGACGCGGTCTGTCC	0.667																																						ENST00000323469.4	1.000000	0.740000	1	8.300000e-01	0.930000	0.925528	0.930000	1.000000																										0				6						c.(568-570)cgC>cgT		DIRAS family, GTP-binding RAS-like 1							103.0	98.0	100.0					19																	2717235		2203	4298	6501	SO:0001819	synonymous_variant	148252	0	0					g.chr19:2717235G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.570C>T	chr19.hg19:g.2717235G>A		0					DIRAS1_ENST00000585334.1_Silent_p.R190R	p.R190R	NM_145173.3	NP_660156.1	1	2	3	2.010022	O95057	DIRA1_HUMAN		2	753	-				Silent	SNP	ENST00000323469.4	1	1	hg19	c.570C>T	CCDS12092.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	1		2	2	2	0		0	0	140		140	137	1	2.060000	-16.292190	1	0.170000				76	74		893	866	0		1	0		0	0	140	0		1	1.798532e-02	0	0	0	3	0	76	893
DIRAS1	148252	broad.mit.edu	37	19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	111					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		ATGTCCTCCACGCTGCCCTTG	0.642																																						ENST00000323469.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				6						c.(331-333)Gtg>Atg		DIRAS family, GTP-binding RAS-like 1							59.0	49.0	53.0					19																	2717474		2202	4300	6502	SO:0001583	missense	148252	4	121346	33				g.chr19:2717474C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.331G>A	chr19.hg19:g.2717474C>T	ENSP00000325836:p.Val111Met	0					DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	p.V111M	NM_145173.3	NP_660156.1	1	2	3	2.010022	O95057	DIRA1_HUMAN		2	514	-				Missense_Mutation	SNP	ENST00000323469.4	1	1	hg19	c.331G>A	CCDS12092.1	1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212378	0.39102	.	.	ENSG00000176490	ENST00000323469	T	0.70164	-0.46	4.21	4.21	0.49690	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.064498	0.64402	D	0.000009	T	0.56337	0.1978	L	0.53671	1.685	0.58432	D	0.99999	B	0.28208	0.203	B	0.24541	0.054	T	0.54774	-0.8243	10	0.31617	T	0.26	.	8.0326	0.30474	0.0:0.8865:0.0:0.1135	.	111	O95057	DIRA1_HUMAN	M	111	ENSP00000325836:V111M	ENSP00000325836:V111M	V	-	1	0	0	DIRAS1	2668474	2668474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.573000	0.46007	1.898000	0.54952	0.549000	0.68633	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000				36	33		226	221	1		1	0	0	0	0	38	0		1	9.833484e-02	0	0	0	4	1	36	226
DIRAS1	148252	broad.mit.edu	37	19	2717568	2717568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G79G(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGAAGGCGTGGCCCTTGGAGA	0.622																																						ENST00000323469.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G79G(1)	ovary(1)	6						c.(235-237)ggC>ggT		DIRAS family, GTP-binding RAS-like 1							70.0	58.0	62.0					19																	2717568		2201	4299	6500	SO:0001819	synonymous_variant	148252	0	0					g.chr19:2717568G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.237C>T	chr19.hg19:g.2717568G>A		0					DIRAS1_ENST00000585334.1_Silent_p.G79G	p.G79G	NM_145173.3	NP_660156.1	1	2	3	2.010022	O95057	DIRA1_HUMAN		2	420	-				Silent	SNP	ENST00000323469.4	1	1	hg19	c.237C>T	CCDS12092.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				50	50		189	189	1		1	0	0	0	0	48	0		1	3.728733e-01	0	0	0	6	1	50	189
DIRAS1	148252	broad.mit.edu	37	19	2717589	2717589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	72					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGGACAGGCGCTGCATGGCCG	0.627																																						ENST00000323469.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(214-216)caG>caA		DIRAS family, GTP-binding RAS-like 1							74.0	61.0	65.0					19																	2717589		2202	4297	6499	SO:0001819	synonymous_variant	148252	0	0					g.chr19:2717589C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.216G>A	chr19.hg19:g.2717589C>T		0					DIRAS1_ENST00000585334.1_Silent_p.Q72Q	p.Q72Q	NM_145173.3	NP_660156.1	1	2	3	2.010022	O95057	DIRA1_HUMAN		2	399	-				Silent	SNP	ENST00000323469.4	1	1	hg19	c.216G>A	CCDS12092.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				59	59		189	186	1		1	0	0	0	0	41	0		1	5.275956e-01	0	0	0	7	1	59	189
DIRAS1	148252	broad.mit.edu	37	19	2717685	2717685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	40					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		AGGTGTCCTCGATGGTGGGGA	0.657																																						ENST00000323469.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(118-120)atC>atT		DIRAS family, GTP-binding RAS-like 1							97.0	76.0	83.0					19																	2717685		2203	4299	6502	SO:0001819	synonymous_variant	148252	0	0					g.chr19:2717685G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.120C>T	chr19.hg19:g.2717685G>A		0					DIRAS1_ENST00000585334.1_Silent_p.I40I	p.I40I	NM_145173.3	NP_660156.1	1	2	3	2.010022	O95057	DIRA1_HUMAN		2	303	-				Silent	SNP	ENST00000323469.4	1	1	hg19	c.120C>T	CCDS12092.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	0		2	2	2	0		0	0	66		66	63	1	2.060000	-20.000000	1	0.170000				76	74		328	321	1		1	0		0	0	66	0		1	2.422733e-01	0	0	0	5	0	76	328
SGTA	6449	broad.mit.edu	37	19	2769007	2769007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	20					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GGCCCCCGTGCCGGAGCTGGT	0.627																																						ENST00000221566.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(58-60)cgG>cgA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							75.0	81.0	79.0					19																	2769007		2203	4300	6503	SO:0001819	synonymous_variant	6449	0	0					g.chr19:2769007C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.60G>A	chr19.hg19:g.2769007C>T		0						p.R20R	NM_003021.3	NP_003012.1	1	2	3	2.010022	O43765	SGTA_HUMAN		2	221	-		Hepatocellular(1079;0.137)	D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	1	1	hg19	c.60G>A	CCDS12094.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.382112	1	0.170000	NM_003021			80	79		368	363	1		1	1		0	0	88	0		1	1	0	49	0	106	0	80	368
THOP1	7064	broad.mit.edu	37	19	2790603	2790603	+	Silent	SNP	G	G	A	rs368257927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	67					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CGCTCAAGGCGCTGGCCGATG	0.652																																						ENST00000307741.6	1.000000	0.840000	1	9.900000e-01	0.990000	0.988518	0.990000	1.000000																										0				14						c.(199-201)gcG>gcA		thimet oligopeptidase 1		G		1,4405	2.1+/-5.4	0,1,2202	70.0	57.0	61.0		201	-7.6	1.0	19		61	0,8600		0,0,4300	no	coding-synonymous	THOP1	NM_003249.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		67/690	2790603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7064	5	121334	35				g.chr19:2790603G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.201G>A	chr19.hg19:g.2790603G>A		0						p.A67A	NM_003249.3	NP_003240.1	1	2	3	2.010022	P52888	THOP1_HUMAN		2	404	+			B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	1	1	hg19	c.201G>A	CCDS12095.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000				27	26		234	232	1		1	1		0	0	48	0		1	9.928951e-01	0	9	0	61	0	27	234
THOP1	7064	broad.mit.edu	37	19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	118					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GAGGGAGGACGTGTACCAGAG	0.617																																						ENST00000307741.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(352-354)Gtg>Atg		thimet oligopeptidase 1							112.0	89.0	96.0					19																	2794884		2203	4300	6503	SO:0001583	missense	7064	0	0					g.chr19:2794884G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.352G>A	chr19.hg19:g.2794884G>A	ENSP00000304467:p.Val118Met	0					THOP1_ENST00000586677.1_5'Flank	p.V118M	NM_003249.3	NP_003240.1	1	2	3	2.010022	P52888	THOP1_HUMAN		3	555	+			B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	1	1	hg19	c.352G>A	CCDS12095.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504213	0.85176	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.12	5.12	0.69794	5.12	5.12	0.69794	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.32771	-0.9894	10	0.87932	D	0	-61.0448	17.1204	0.86700	0.0:0.0:1.0:0.0	.	118	P52888	THOP1_HUMAN	M	118	ENSP00000304467:V118M	ENSP00000304467:V118M	V	+	1	0	0	THOP1	2745884	2745884	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.003000	0.93577	2.382000	0.81193	0.462000	0.41574	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000				96	96		375	370	1		1	1		0	0	99	0		1	9.999972e-01	0	15	0	59	0	96	375
ZNF554	115196	broad.mit.edu	37	19	2834613	2834613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)		CTCACACGGGCGAGAACCCCT	0.547																																						ENST00000317243.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1378-1380)ggC>ggT		zinc finger protein 554							60.0	71.0	67.0					19																	2834613		2202	4299	6501	SO:0001819	synonymous_variant	115196	2	121398	30				g.chr19:2834613C>T	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.1380C>T	chr19.hg19:g.2834613C>T		0						p.G460G	NM_001102651.1	NP_001096121.1	1	2	3	2.010022	Q86TJ5	ZN554_HUMAN		5	1578	+		Hepatocellular(1079;0.137)	Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	1	1	hg19	c.1380C>T	CCDS42462.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_152303			53	53		221	218	1		1	1		0	0	66	0		1	9.845118e-01	0	4	0	26	0	53	221
ZNF555	148254	broad.mit.edu	37	19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000334241.4	+	4	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CTCTATAAATGCAAGCAGTGT	0.413																																						ENST00000334241.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1528-1530)tGc>tAc		zinc finger protein 555							121.0	111.0	114.0					19																	2853592		2203	4300	6503	SO:0001583	missense	148254	0	0					g.chr19:2853592G>A	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.1529G>A	chr19.hg19:g.2853592G>A	ENSP00000334853:p.Cys510Tyr	0					ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y|AC006130.3_ENST00000589365.1_RNA	p.C510Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	1	2	3	2.010022	Q8NEP9	ZN555_HUMAN		4	1667	+			A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	1	1	hg19	c.1529G>A	CCDS12096.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485938	0.63962	.	.	ENSG00000186300	ENST00000334241	D	0.85088	-1.94	3.22	3.22	0.36961	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93051	0.7788	M	0.91768	3.24	0.38304	D	0.943076	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94845	0.8008	9	0.87932	D	0	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	510;509	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	510	ENSP00000334853:C510Y	ENSP00000334853:C510Y	C	+	2	0	0	ZNF555	2804592	2804592	1.000000	0.71417	0.018000	0.16275	0.957000	0.61999	8.594000	0.90836	1.799000	0.52666	0.561000	0.74099	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_152791			74	74		423	421	1		1	1		0	0	110	0		1	8.575661e-01	0	5	0	17	0	74	423
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000307635.2	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000586426.1_Missense_Mutation_p.S56F	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	56	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)			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)		GGGTCTATTTCTCAGCAGGAT	0.368																																						ENST00000307635.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(166-168)tCt>tTt		zinc finger protein 556							136.0	149.0	145.0					19																	2876127		2203	4300	6503	SO:0001583	missense	80032	0	0					g.chr19:2876127C>T	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.167C>T	chr19.hg19:g.2876127C>T	ENSP00000302603:p.Ser56Phe	0					ZNF556_ENST00000586426.1_Missense_Mutation_p.S56F	p.S56F	NM_024967.1	NP_079243.1	1	2	3	2.010022	Q9HAH1	ZN556_HUMAN		3	254	+			Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	1	1	hg19	c.167C>T	CCDS12097.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459786	0.43736	.	.	ENSG00000172000	ENST00000307635	T	0.06218	3.33	2.44	2.44	0.29823	2.44	2.44	0.29823	Krueppel-associated box (3);	.	.	.	.	T	0.04952	0.0133	L	0.33137	0.985	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.23976	-1.0173	9	0.09843	T	0.71	.	10.636	0.45565	0.0:1.0:0.0:0.0	.	56	Q9HAH1	ZN556_HUMAN	F	56	ENSP00000302603:S56F	ENSP00000302603:S56F	S	+	2	0	0	ZNF556	2827127	2827127	0.000000	0.05858	0.017000	0.16124	0.270000	0.26580	0.426000	0.21363	1.391000	0.46566	0.393000	0.25936	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	1	0	1		2	2	2	0		0	0	190		190	185	1	2.060000	-20.000000	1	0.170000	NM_024967			202	196		933	911	1		1	0		0	0	190	0		1	0	0	0	0	1	0	202	933
ZNF77	58492	broad.mit.edu	37	19	2934085	2934085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	ENST00000314531.4	-	4	1132	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	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)			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)		TTTCTCTCCACTGTGCGTTCT	0.512																																						ENST00000314531.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1039-1041)aGt>aAt		zinc finger protein 77							88.0	78.0	81.0					19																	2934085		2203	4300	6503	SO:0001583	missense	58492	0	0					g.chr19:2934085C>T	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.1040G>A	chr19.hg19:g.2934085C>T	ENSP00000319053:p.Ser347Asn	0						p.S347N	NM_021217.2	NP_067040.1	1	2	3	2.010022	Q15935	ZNF77_HUMAN		4	1132	-			Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	1	0	hg19	c.1040G>A	CCDS12099.1	1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220668	0.39201	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.19394	2.15	3.28	-0.668	0.11392	3.28	-0.668	0.11392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	N	0.21097	0.63	0.22933	N	0.998543	B	0.32543	0.375	B	0.35770	0.21	T	0.30327	-0.9982	9	0.66056	D	0.02	.	6.3263	0.21244	0.0:0.3325:0.5374:0.1302	.	347	Q15935	ZNF77_HUMAN	N	141;347	ENSP00000319053:S347N	ENSP00000319053:S347N	S	-	2	0	0	ZNF77	2885085	2885085	0.992000	0.36948	0.010000	0.14722	0.062000	0.15995	2.149000	0.42244	0.124000	0.18369	0.491000	0.48974	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.387243	1	0.170000	NM_021217			73	72		287	284	0		1	1		0	0	74	0		1	5.744568e-01	0	2	0	7	0	73	287
ZNF254	9534	broad.mit.edu	37	19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	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)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAAGAGCCCTGGAATATGAAG	0.423																																						ENST00000357002.4	1.000000	0.740000	1	8.400000e-01	0.970000	0.939032	0.970000	1.000000																										0										c.(214-216)tGg>tAg		zinc finger protein 254							130.0	140.0	137.0					19																	24289407		1511	2709	4220	SO:0001587	stop_gained	9534	0	0					g.chr19:24289407G>A	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.215G>A	chr19.hg19:g.24289407G>A	ENSP00000349494:p.Trp72*	0					ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	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	1	2	3	2.010022	O75437	ZN254_HUMAN		3	330	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	0	1	hg19	c.215G>A	CCDS32983.1	1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796989	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	2	0	0	ZNF254	24081247	24081247	0.123000	0.22298	0.064000	0.19789	0.065000	0.16274	1.038000	0.30254	0.300000	0.22699	0.305000	0.20034	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-3.142702	1	0.170000	NM_004876			56	56		635	626	0		1	0		0	0	145	0		1	4.407417e-01	0	0	0	18	0	56	635
TLE6	79816	broad.mit.edu	37	19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	231					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				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)		ACAAGTTGGGGTGTGGTCCAG	0.667																																						ENST00000246112.4	1.000000	0.650000	1	8.800000e-01	0.990000	0.955830	0.990000	1.000000																										0				10						c.(691-693)gGt>gAt		transducin-like enhancer of split 6							33.0	32.0	32.0					19																	2987962		2203	4300	6503	SO:0001583	missense	79816	0	0					g.chr19:2987962G>A	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.692G>A	chr19.hg19:g.2987962G>A	ENSP00000246112:p.Gly231Asp	0					TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	p.G231D	NM_001143986.1	NP_001137458.1	1	2	3	2.010022	Q9H808	TLE6_HUMAN		10	893	+			J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	1	1	hg19	c.692G>A	CCDS45910.1	1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208681	0.22205	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.19105	2.17;2.21	2.64	-5.2	0.02823	2.64	-5.2	0.02823	.	.	.	.	.	T	0.09992	0.0245	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.32693	-0.9897	9	0.34782	T	0.22	1.4638	0.8575	0.01186	0.455:0.1661:0.2125:0.1665	.	231;108;108	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	D	231;231;108;108	ENSP00000246112:G231D;ENSP00000406893:G108D	ENSP00000246112:G231D	G	+	2	0	0	TLE6	2938962	2938962	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.268000	0.08607	-1.113000	0.02981	0.449000	0.29647	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-18.426610	1	0.170000	NM_024760			12	12		112	111	0		1	1		0	0	27	0		9.992366e-01	1.994512e-01	0	4	0	4	0	12	112
TLE6	79816	broad.mit.edu	37	19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A	rs201023348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	473					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				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)		CCCAGGAGGACTGGGTGCTGC	0.632																																						ENST00000246112.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0				10						c.(1417-1419)gaC>gaA		transducin-like enhancer of split 6							42.0	41.0	41.0					19																	2993462		2203	4300	6503	SO:0001583	missense	79816	0	0					g.chr19:2993462C>A	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.1419C>A	chr19.hg19:g.2993462C>A	ENSP00000246112:p.Asp473Glu	0					TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	p.D473E	NM_001143986.1	NP_001137458.1	1	2	3	2.010022	Q9H808	TLE6_HUMAN		15	1620	+			J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	1	1	hg19	c.1419C>A	CCDS45910.1	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487138	0.26686	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.38	3.38	0.38709	3.38	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.35456	D	0.796125	D;P;P;D	0.54772	0.968;0.859;0.937;0.968	P;P;B;P	0.52758	0.708;0.619;0.414;0.569	T	0.02721	-1.1119	9	0.02654	T	1	-46.1116	10.5257	0.44948	0.0:1.0:0.0:0.0	.	473;331;350;350	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	E	473;473;350;350	ENSP00000246112:D473E;ENSP00000406893:D350E	ENSP00000246112:D473E	D	+	3	2	2	TLE6	2944462	2944462	0.998000	0.40836	0.859000	0.33776	0.284000	0.27059	0.605000	0.24179	2.202000	0.70862	0.561000	0.74099	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_024760			31	31		185	185	1		1	0		0	0	57	0		1	1.069905e-01	0	1	0	3	0	31	185
TLE2	7089	broad.mit.edu	37	19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	442					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GGGATGCCCGCGCCTACCAGT	0.682																																						ENST00000262953.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999778	0.990000	1.000000																										0				13						c.(1324-1326)Gcg>Acg		transducin-like enhancer of split 2							13.0	18.0	17.0					19																	3006594		2075	4203	6278	SO:0001583	missense	7089	0	0					g.chr19:3006594C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1324G>A	chr19.hg19:g.3006594C>T	ENSP00000262953:p.Ala442Thr	0					TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000586422.1_Intron	p.A442T	NM_003260.4	NP_003251.2	1	2	3	2.010022	Q04725	TLE2_HUMAN		15	1586	-			B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	0	1	hg19	c.1324G>A	CCDS45911.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729813	0.48833	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	3.87	-0.643	0.11482	3.87	-0.643	0.11482	WD40 repeat-like-containing domain (1);	0.333784	0.33496	N	0.004855	T	0.03827	0.0108	N	0.15975	0.35	0.26651	N	0.972095	B;B;B;B;B;B	0.29716	0.255;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B	0.15484	0.013;0.0;0.002;0.003;0.0;0.0	T	0.30238	-0.9985	10	0.52906	T	0.07	-20.3281	1.0155	0.01506	0.1583:0.2763:0.1551:0.4103	.	350;320;109;456;320;442	B4DZU9;E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;.;TLE2_HUMAN	T	442;320;436;109;320;456;350	ENSP00000262953:A442T;ENSP00000413107:A320T;ENSP00000406523:A109T;ENSP00000392427:A320T;ENSP00000392869:A456T	ENSP00000262953:A442T	A	-	1	0	0	TLE2	2957594	2957594	0.965000	0.33210	0.620000	0.29132	0.832000	0.47134	0.456000	0.21859	0.086000	0.17137	0.456000	0.33151	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_003260			16	15		70	69	1		1	1		0	0	13	0		9.999550e-01	9.710594e-01	0	7	0	22	0	16	70
TLE2	7089	broad.mit.edu	37	19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	401					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GATGACCCTCGGAGATGGGGA	0.652																																						ENST00000262953.6	1.000000	0.630000	1	9.900000e-01	0.990000	0.969940	0.990000	1.000000																										0				13						c.(1201-1203)Cga>Tga		transducin-like enhancer of split 2							47.0	56.0	53.0					19																	3008916		2020	4173	6193	SO:0001587	stop_gained	7089	0	0					g.chr19:3008916G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1201C>T	chr19.hg19:g.3008916G>A	ENSP00000262953:p.Arg401*	0					TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000586422.1_Intron	p.R401*	NM_003260.4	NP_003251.2	1	2	3	2.010022	Q04725	TLE2_HUMAN		14	1463	-			B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Nonsense_Mutation	SNP	ENST00000262953.6	0	1	hg19	c.1201C>T	CCDS45911.1	1	.	.	.	.	.	.	.	.	.	.	g	45	11.444582	0.99562	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.116373	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8716	9.2923	0.37793	0.0:0.0:0.7855:0.2145	.	.	.	.	X	401;279;395;68;279;415;309	.	ENSP00000262953:R401X	R	-	1	2	2	TLE2	2959916	2959916	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	0.437000	0.21543	2.512000	0.84698	0.549000	0.68633	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-11.276580	1	0.170000	NM_003260			5	5		31	30	1		1	1		0	0	10	0		9.377759e-01	9.538183e-01	0	2	0	37	0	5	31
TLE2	7089	broad.mit.edu	37	19	3011123	3011123	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000262953.6	-	12	1171	c.909C>A	c.(907-909)tcC>tcA	p.S303S	TLE2_ENST00000447365.2_Missense_Mutation_p.P12H|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000426948.2_Silent_p.S317S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	303	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGGAGTCACAGGATTTGGAGG	0.642																																						ENST00000262953.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				13						c.(907-909)tcC>tcA		transducin-like enhancer of split 2							21.0	28.0	26.0					19																	3011123		2082	4214	6296	SO:0001819	synonymous_variant	7089	0	0					g.chr19:3011123G>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.909C>A	chr19.hg19:g.3011123G>T		0					TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000447365.2_Missense_Mutation_p.P12H|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000587217.1_5'Flank	p.S303S	NM_003260.4	NP_003251.2	1	2	3	2.010022	Q04725	TLE2_HUMAN		12	1171	-			B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	1	1	hg19	c.909C>A	CCDS45911.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527215	0.27299	.	.	ENSG00000065717	ENST00000447365	T	0.59906	0.23	4.58	3.51	0.40186	4.58	3.51	0.40186	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.59425	D	0.04	2.597	9.9184	0.41448	0.0:0.0:0.6161:0.3839	.	12	B4DE62	.	H	12	ENSP00000406523:P12H	ENSP00000406523:P12H	P	-	2	0	0	TLE2	2962123	2962123	0.267000	0.24122	0.998000	0.56505	0.491000	0.33493	0.216000	0.17585	0.990000	0.38787	0.561000	0.74099	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	0	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_003260			25	22		110	105	1		1	1		0	0	25	0		9.999999e-01	9.999082e-01	0	8	0	62	0	25	110
UQCRFS1	7386	broad.mit.edu	37	19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	176					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)			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)			TCTATGACGCACAAACAGGGG	0.453																																						ENST00000304863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(526-528)gTg>gCg		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							114.0	119.0	117.0					19																	29698753		2203	4300	6503	SO:0001583	missense	7386	0	0					g.chr19:29698753A>G	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.527T>C	chr19.hg19:g.29698753A>G	ENSP00000306397:p.Val176Ala	0						p.V176A	NM_006003.2	NP_005994.2	1	2	3	2.010022	P47985	UCRI_HUMAN	Lung(7;0.092)	2	949	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	1	1	hg19	c.527T>C	CCDS12415.1	1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601290	0.66445	.	.	ENSG00000169021	ENST00000304863	T	0.58358	0.34	5.42	5.42	0.78866	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.97440	4.005	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88316	0.2959	10	0.87932	D	0	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	176	P47985	UCRI_HUMAN	A	176	ENSP00000306397:V176A	ENSP00000306397:V176A	V	-	2	0	0	UQCRFS1	34390593	34390593	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.071000	0.76770	2.053000	0.61076	0.379000	0.24179	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_006003			103	101		601	590	1		1	1		0	0	145	0		1	1	0	169	0	480	0	103	601
C19orf12	83636	broad.mit.edu	37	19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A	rs201987973		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000392278.2	-	3	374	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	83			P -> L (in NBIA4; dbSNP:rs201987973). {ECO:0000269|PubMed:23269600}.		cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557																																						ENST00000392278.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(247-249)cCg>cTg		chromosome 19 open reading frame 12							92.0	92.0	92.0					19																	30193830		2203	4300	6503	SO:0001583	missense	83636	4	121412	40				g.chr19:30193830G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.248C>T	chr19.hg19:g.30193830G>A	ENSP00000376103:p.Pro83Leu	0					C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	p.P83L	NM_001031726.3	NP_001026896.2	1	2	3	2.010022	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)	3	374	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	1	1	hg19	c.248C>T	CCDS42542.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173517	0.57584	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	D;D;D	0.82433	-1.61;-1.61;-1.61	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.958;0.995	D	0.93199	0.6590	10	0.87932	D	0	-11.7687	17.7183	0.88344	0.0:0.0:1.0:0.0	.	72;83	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	72;8;8;83;72	ENSP00000313332:P72L;ENSP00000376102:P8L;ENSP00000376103:P83L	ENSP00000313332:P72L	P	-	2	0	0	C19orf12	34885670	34885670	1.000000	0.71417	0.911000	0.35937	0.422000	0.31414	9.057000	0.93889	2.435000	0.82474	0.591000	0.81541	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	1	0	1		2	2	2	0		0	0	151		151	149	1	2.060000	-3.076141	1	0.170000	NM_031448			110	107		604	597	1		1	1		0	0	151	0		1	9.999820e-01	0	23	0	63	0	110	604
C19orf12	83636	broad.mit.edu	37	19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000392278.2	-	2	232	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	36					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617																																						ENST00000392278.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(106-108)Gtc>Atc		chromosome 19 open reading frame 12							66.0	68.0	67.0					19																	30199248		1947	4139	6086	SO:0001583	missense	83636	0	0					g.chr19:30199248C>T	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.106G>A	chr19.hg19:g.30199248C>T	ENSP00000376103:p.Val36Ile	0					C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	p.V36I	NM_001031726.3	NP_001026896.2	1	2	3	2.010022	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)	2	232	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	1	1	hg19	c.106G>A	CCDS42542.1	1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804629	0.16467	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.08	-0.232	0.13082	6.08	-0.232	0.13082	.	0.360249	0.28398	N	0.015489	T	0.66208	0.2766	L	0.28274	0.84	0.37127	D	0.901079	B;B	0.18863	0.011;0.031	B;B	0.18871	0.016;0.023	T	0.51458	-0.8703	10	0.19147	T	0.46	-25.3389	6.3088	0.21153	0.12:0.5333:0.0:0.3467	.	25;36	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	25;36;25	ENSP00000313332:V25I;ENSP00000376103:V36I;ENSP00000345497:V25I	ENSP00000313332:V25I	V	-	1	0	0	C19orf12	34891088	34891088	0.001000	0.12720	0.307000	0.25127	0.060000	0.15804	-0.075000	0.11431	0.163000	0.19507	0.591000	0.81541	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_031448			101	101		366	360	1		1	1		0	0	63	0		1	9.841026e-01	0	8	0	18	0	101	366
CCNE1	898	broad.mit.edu	37	19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C|CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	253					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)			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)			CTGAATGTATACATGCAGGTT	0.433			A		serous ovarian																																	ENST00000262643.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19q12	19q12	898	A	cyclin E1				E	E			serous ovarian		0				20						c.(757-759)tAc>tGc		cyclin E1							180.0	174.0	176.0					19																	30312955		2203	4300	6503	SO:0001583	missense	898	0	0					g.chr19:30312955A>G	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.758A>G	chr19.hg19:g.30312955A>G	ENSP00000262643:p.Tyr253Cys	0					CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C|CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C	p.Y253C	NM_001238.2	NP_001229.1	1	2	3	2.010022	P24864	CCNE1_HUMAN	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)	9	1037	+	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)		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	1	1	hg19	c.758A>G	CCDS12419.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129424	0.77549	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.08	6.08	0.98989	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (1);	0.051716	0.85682	D	0.000000	T	0.52821	0.1758	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58814	-0.7570	10	0.87932	D	0	.	10.985	0.47516	0.8609:0.0:0.0:0.1391	.	253	P24864	CCNE1_HUMAN	C	253;210;238	ENSP00000262643:Y253C;ENSP00000350625:Y210C;ENSP00000410179:Y238C	ENSP00000262643:Y253C	Y	+	2	0	0	CCNE1	35004795	35004795	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.330000	0.79181	2.333000	0.79357	0.482000	0.46254	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_001238			167	160		682	668	1		1	1		0	0	140	0		1	9.106652e-01	0	4	0	15	0	167	682
CCNE1	898	broad.mit.edu	37	19	30313164	30313164	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000444983.2_Silent_p.V271V|CCNE1_ENST00000357943.5_Silent_p.V243V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	286					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)			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)			ATCTCTGTGTCCTGGATGTTG	0.473			A		serous ovarian																																	ENST00000262643.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19q12	19q12	898	A	cyclin E1				E	E			serous ovarian		0				20						c.(856-858)gtC>gtA		cyclin E1							332.0	266.0	288.0					19																	30313164		2203	4300	6503	SO:0001819	synonymous_variant	898	0	0					g.chr19:30313164C>A	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.858C>A	chr19.hg19:g.30313164C>A		0					CCNE1_ENST00000444983.2_Silent_p.V271V|CCNE1_ENST00000357943.5_Silent_p.V243V	p.V286V	NM_001238.2	NP_001229.1	1	2	3	2.010022	P24864	CCNE1_HUMAN	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)	10	1137	+	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)		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	1	1	hg19	c.858C>A	CCDS12419.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	1		2	2	2	0		0	0	176		176	176	1	2.060000	-20.000000	1	0.170000	NM_001238			146	140		629	614	1		1	1		0	0	176	0		1	9.960242e-01	0	19	0	19	0	146	629
MIER2	54531	broad.mit.edu	37	19	308850	308850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		GTCTGCTGGGCGAAGTAGTCG	0.677																																						ENST00000264819.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998630	0.990000	1.000000																										0				22						c.(1060-1062)Gcc>Acc		mesoderm induction early response 1, family member 2							59.0	54.0	55.0					19																	308850		2203	4300	6503	SO:0001583	missense	54531	1	121404	31				g.chr19:308850C>T	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.1060G>A	chr19.hg19:g.308850C>T	ENSP00000264819:p.Ala354Thr	0					CTD-3113P16.5_ENST00000591533.1_RNA	p.A354T	NM_017550.1	NP_060020.1	1	2	3	2.010022	Q8N344	MIER2_HUMAN		11	1070	-		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)	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	1	1	hg19	c.1060G>A	CCDS32855.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568703	0.45798	.	.	ENSG00000105556	ENST00000264819	T	0.29397	1.57	4.49	1.07	0.20283	4.49	1.07	0.20283	.	0.498482	0.16667	N	0.204525	T	0.13670	0.0331	N	0.12637	0.245	0.22389	N	0.99915	B	0.18310	0.027	B	0.14578	0.011	T	0.17440	-1.0369	10	0.36615	T	0.2	-10.9915	3.6206	0.08094	0.2274:0.1757:0.0:0.5968	.	354	Q8N344	MIER2_HUMAN	T	354	ENSP00000264819:A354T	ENSP00000264819:A354T	A	-	1	0	0	MIER2	259850	259850	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	3.052000	0.49893	-0.094000	0.12374	0.457000	0.33378	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-16.831220	1	0.170000	XM_041843			45	43		356	352	1		1	1		0	0	66	0		1	8.358839e-01	0	2	0	26	0	45	356
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000444983.2_Silent_p.C307C|CCNE1_ENST00000357943.5_Silent_p.C279C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	322					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)			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)			ATCAGTGGTGCGACATAGAGA	0.498			A		serous ovarian																																	ENST00000262643.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19q12	19q12	898	A	cyclin E1				E	E			serous ovarian		0				20						c.(964-966)tgC>tgT		cyclin E1							174.0	145.0	155.0					19																	30313366		2203	4300	6503	SO:0001819	synonymous_variant	898	5	121412	42				g.chr19:30313366C>T	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.966C>T	chr19.hg19:g.30313366C>T		0					CCNE1_ENST00000444983.2_Silent_p.C307C|CCNE1_ENST00000357943.5_Silent_p.C279C	p.C322C	NM_001238.2	NP_001229.1	1	2	3	2.010022	P24864	CCNE1_HUMAN	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)	11	1245	+	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)		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	1	1	hg19	c.966C>T	CCDS12419.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_001238			117	113		503	494	0		1	1		0	0	126	0		1	8.963951e-01	0	6	0	13	0	117	503
ZNF536	9745	broad.mit.edu	37	19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	143					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCTTCAACAGCATCCTCTCC	0.622																																						ENST00000355537.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				182						c.(427-429)aGc>aAc		zinc finger protein 536							64.0	54.0	57.0					19																	30934897		2202	4300	6502	SO:0001583	missense	9745	0	0					g.chr19:30934897G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.428G>A	chr19.hg19:g.30934897G>A	ENSP00000347730:p.Ser143Asn	0						p.S143N	NM_014717.1	NP_055532.1	1	2	3	2.010022	O15090	ZN536_HUMAN		2	575	+	Esophageal squamous(110;0.0834)		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	1	1	hg19	c.428G>A	CCDS32984.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991212	0.74703	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040714	0.85682	N	0.000000	T	0.21761	0.0524	L	0.32530	0.975	0.54753	D	0.999986	D;D	0.69078	0.996;0.997	D;D	0.79784	0.951;0.993	T	0.00579	-1.1661	10	0.66056	D	0.02	-34.9913	19.4466	0.94849	0.0:0.0:1.0:0.0	.	143;143	A7E228;O15090	.;ZN536_HUMAN	N	143	ENSP00000347730:S143N	ENSP00000347730:S143N	S	+	2	0	0	ZNF536	35626737	35626737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.860000	0.99555	2.609000	0.88269	0.462000	0.41574	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_014717			70	68		285	282	1		1			0	0	74	0		1	0	0	0	0	0	0	70	285
ZNF536	9745	broad.mit.edu	37	19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	254					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGCCCACCCGGTGCCCTC	0.736																																						ENST00000355537.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				182						c.(760-762)Ccg>Tcg		zinc finger protein 536							5.0	7.0	6.0					19																	30935229		1995	3958	5953	SO:0001583	missense	9745	0	0					g.chr19:30935229C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.760C>T	chr19.hg19:g.30935229C>T	ENSP00000347730:p.Pro254Ser	0						p.P254S	NM_014717.1	NP_055532.1	1	2	3	2.010022	O15090	ZN536_HUMAN		2	907	+	Esophageal squamous(110;0.0834)		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	0	1	hg19	c.760C>T	CCDS32984.1	1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960870	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.051124	0.85682	D	0.000000	T	0.08802	0.0218	L	0.32530	0.975	0.45979	D	0.998794	P;P	0.48294	0.666;0.908	B;P	0.46585	0.162;0.521	T	0.11036	-1.0604	10	0.05959	T	0.93	-30.3078	14.6357	0.68689	0.1456:0.8544:0.0:0.0	.	254;254	A7E228;O15090	.;ZN536_HUMAN	S	254	ENSP00000347730:P254S	ENSP00000347730:P254S	P	+	1	0	0	ZNF536	35627069	35627069	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	1.929000	0.40114	2.702000	0.92279	0.491000	0.48974	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014717			28	27		98	97	0		1			0	0	11	0		1	0	0	0	0	0	0	28	98
ZNF536	9745	broad.mit.edu	37	19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	399					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAACAAGCTGTCGGTGAA	0.607																																						ENST00000355537.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				182						c.(1195-1197)Ctg>Atg		zinc finger protein 536							57.0	59.0	58.0					19																	30935664		2203	4300	6503	SO:0001583	missense	9745	0	0					g.chr19:30935664C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1195C>A	chr19.hg19:g.30935664C>A	ENSP00000347730:p.Leu399Met	0						p.L399M	NM_014717.1	NP_055532.1	1	2	3	2.010022	O15090	ZN536_HUMAN		2	1342	+	Esophageal squamous(110;0.0834)		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	1	1	hg19	c.1195C>A	CCDS32984.1	1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655879	0.29425	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.44	5.44	0.79542	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.48642	1.525	0.39902	D	0.973911	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00651	-1.1626	10	0.56958	D	0.05	-19.9523	10.4163	0.44325	0.0:0.8797:0.0:0.1203	.	399;399	A7E228;O15090	.;ZN536_HUMAN	M	399	ENSP00000347730:L399M	ENSP00000347730:L399M	L	+	1	2	2	ZNF536	35627504	35627504	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.184000	0.50926	2.535000	0.85469	0.591000	0.81541	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_014717			90	89		374	370	1		1			0	0	78	0		1	0	0	0	0	0	0	90	374
GNA11	2767	broad.mit.edu	37	19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637			Mis		uveal melanoma																																	ENST00000078429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""				E	E			uveal melanoma		0				161						c.(880-882)gAg>gCg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							70.0	60.0	64.0					19																	3119349		2203	4300	6503	SO:0001583	missense	2767	0	0					g.chr19:3119349A>C	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.881A>C	chr19.hg19:g.3119349A>C	ENSP00000078429:p.Glu294Ala	0					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	p.E294A	NM_002067.2	NP_002058.2	1	2	3	2.010022	P29992	GNA11_HUMAN		6	1123	+		Hepatocellular(1079;0.137)	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	1	1	hg19	c.881A>C	CCDS12103.1	1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.483197	0.44147	.	.	ENSG00000088256	ENST00000078429	D	0.89617	-2.54	4.12	4.12	0.48240	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	D	0.88919	0.6568	M	0.73430	2.235	0.58432	D	0.99999	B	0.13145	0.007	B	0.29077	0.098	D	0.87515	0.2442	10	0.87932	D	0	.	11.9657	0.53033	1.0:0.0:0.0:0.0	.	294	P29992	GNA11_HUMAN	A	294	ENSP00000078429:E294A	ENSP00000078429:E294A	E	+	2	0	0	GNA11	3070349	3070349	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	4.525000	0.60559	1.511000	0.48818	0.391000	0.25812	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_002067			78	76		330	327	1		1	1		0	0	81	0		1	1	0	59	0	166	0	78	330
GNA11	2767	broad.mit.edu	37	19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	342					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597			Mis		uveal melanoma																																	ENST00000078429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""				E	E			uveal melanoma		0				161						c.(1024-1026)Gcg>Acg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							88.0	58.0	68.0					19																	3121121		2203	4300	6503	SO:0001583	missense	2767	0	0					g.chr19:3121121G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.1024G>A	chr19.hg19:g.3121121G>A	ENSP00000078429:p.Ala342Thr	0					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	p.A342T	NM_002067.2	NP_002058.2	1	2	3	2.010022	P29992	GNA11_HUMAN		7	1266	+		Hepatocellular(1079;0.137)	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	1	1	hg19	c.1024G>A	CCDS12103.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519968	0.44866	.	.	ENSG00000088256	ENST00000078429	D	0.89485	-2.52	3.45	3.45	0.39498	3.45	3.45	0.39498	.	0.000000	0.53938	D	0.000051	D	0.87241	0.6128	M	0.65498	2.005	0.46564	D	0.999102	B	0.14805	0.011	B	0.17433	0.018	D	0.85982	0.1483	10	0.52906	T	0.07	.	13.6444	0.62272	0.0:0.0:1.0:0.0	.	342	P29992	GNA11_HUMAN	T	342	ENSP00000078429:A342T	ENSP00000078429:A342T	A	+	1	0	0	GNA11	3072121	3072121	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.927000	0.63440	1.773000	0.52216	0.561000	0.74099	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_002067			43	42		187	184	1		1	1		0	0	43	0		1	9.999998e-01	0	33	0	75	0	43	187
GNA15	2769	broad.mit.edu	37	19	3148678	3148678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3148678C>T	ENST00000262958.3	+	2	493	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	79					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CAAGGGCTTCCGGCCCCTGGT	0.632																																						ENST00000262958.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				18						c.(235-237)Cgg>Tgg		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							42.0	32.0	35.0					19																	3148678		2199	4297	6496	SO:0001583	missense	2769	0	0					g.chr19:3148678C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.235C>T	chr19.hg19:g.3148678C>T	ENSP00000262958:p.Arg79Trp	0					AC005264.2_ENST00000587587.1_RNA	p.R79W	NM_002068.2	NP_002059.2	1	2	3	2.010022	P30679	GNA15_HUMAN		2	493	+		Hepatocellular(1079;0.137)	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	0	0	hg19	c.235C>T	CCDS12104.1	1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808551	0.50421	.	.	ENSG00000060558	ENST00000262958	D	0.90676	-2.71	4.98	-3.68	0.04463	4.98	-3.68	0.04463	G protein alpha subunit, helical insertion (2);	0.342873	0.26507	N	0.023999	D	0.90445	0.7008	M	0.72353	2.195	0.25551	N	0.987082	D	0.62365	0.991	P	0.55303	0.773	D	0.84788	0.0777	10	0.87932	D	0	.	8.4575	0.32908	0.4777:0.2004:0.3219:0.0	.	79	P30679	GNA15_HUMAN	W	79	ENSP00000262958:R79W	ENSP00000262958:R79W	R	+	1	2	2	GNA15	3099678	3099678	0.718000	0.27976	0.063000	0.19743	0.252000	0.25951	0.214000	0.17541	-0.102000	0.12197	0.456000	0.33151	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	1	0	0		2	2	2	0		0	0	7		7	7	1	2.060000	-20.000000	1	0.170000	NM_002068			17	17		60	58	1		1	1		0	0	7	0		9.999799e-01	9.998284e-01	0	19	0	39	0	17	60
GNA15	2769	broad.mit.edu	37	19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	185					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCCGCAGCCGCATGCCC	0.642																																						ENST00000262958.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(553-555)aGc>aTc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							118.0	101.0	107.0					19																	3151773		2203	4300	6503	SO:0001583	missense	2769	0	0					g.chr19:3151773G>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.554G>T	chr19.hg19:g.3151773G>T	ENSP00000262958:p.Ser185Ile	0					AC005264.2_ENST00000587587.1_RNA	p.S185I	NM_002068.2	NP_002059.2	1	2	3	2.010022	P30679	GNA15_HUMAN		4	812	+		Hepatocellular(1079;0.137)	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	1	1	hg19	c.554G>T	CCDS12104.1	1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060650	0.36373	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.59	3.53	0.40419	4.59	3.53	0.40419	G protein alpha subunit, helical insertion (1);	0.130161	0.51477	U	0.000099	T	0.80999	0.4732	N	0.21508	0.67	0.34022	D	0.652732	B	0.11235	0.004	B	0.18263	0.021	T	0.80504	-0.1353	10	0.87932	D	0	.	9.8799	0.41227	0.0:0.0:0.6289:0.3711	.	185	P30679	GNA15_HUMAN	I	185	ENSP00000262958:S185I	ENSP00000262958:S185I	S	+	2	0	0	GNA15	3102773	3102773	0.025000	0.19082	0.962000	0.40283	0.800000	0.45204	1.389000	0.34453	0.895000	0.36342	0.546000	0.68486	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	1	0	1		2	2	2	0		0	0	128		128	123	1	2.060000	-20.000000	1	0.170000	NM_002068			136	135		572	560	1		1	1		0	0	128	0		1	9.998681e-01	0	18	0	38	0	136	572
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552																																						ENST00000355537.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				182						c.(3532-3534)aaC>aaT		zinc finger protein 536							71.0	72.0	72.0					19																	31040060		2203	4300	6503	SO:0001819	synonymous_variant	9745	7	121410	40				g.chr19:31040060C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3534C>T	chr19.hg19:g.31040060C>T		0						p.N1178N	NM_014717.1	NP_055532.1	1	2	3	2.010022	O15090	ZN536_HUMAN		4	3681	+	Esophageal squamous(110;0.0834)		A2RU18	Silent	SNP	ENST00000355537.3	1	1	hg19	c.3534C>T	CCDS32984.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_014717			81	81		319	311	1		1	0		0	0	77	0		1	0	0	0	0	1	0	81	319
TSHZ3	57616	broad.mit.edu	37	19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A	rs541898039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					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.P885L(1)|p.P1068L(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)					GTGGTCTTCCGGAGATTTCCC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20666	0.0		0.0	False		,,,				2504	0.0					ENST00000240587.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.P885L(1)|p.P1068L(1)	endometrium(2)	123						c.(3202-3204)cCg>cTg		teashirt zinc finger homeobox 3							151.0	145.0	147.0					19																	31767496		2203	4300	6503	SO:0001583	missense	57616	1	121394	28				g.chr19:31767496G>A	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.3203C>T	chr19.hg19:g.31767496G>A	ENSP00000240587:p.Pro1068Leu	0						p.P1068L	NM_020856.2	NP_065907.2	1	2	3	2.010022	Q63HK5	TSH3_HUMAN		2	3530	-	Esophageal squamous(110;0.226)		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	1	1	hg19	c.3203C>T	CCDS12421.2	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133706	0.56828	.	.	ENSG00000121297	ENST00000240587	T	0.41400	1.0	5.93	5.93	0.95920	5.93	5.93	0.95920	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.68952	2.095	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.54022	-0.8355	10	0.87932	D	0	-8.4718	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1068	Q63HK5	TSH3_HUMAN	L	1068	ENSP00000240587:P1068L	ENSP00000240587:P1068L	P	-	2	0	0	TSHZ3	36459336	36459336	1.000000	0.71417	0.097000	0.21041	0.715000	0.41141	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.929070	1	0.170000	NM_020856			77	75		301	296	1		1	1		0	0	63	0		1	9.998943e-01	0	4	0	51	0	77	301
TSHZ3	57616	broad.mit.edu	37	19	31768179	31768179	+	Silent	SNP	G	G	A	rs373110206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	840					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)			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)					AGGCATTCTCGCGTAGCGGCG	0.522																																						ENST00000240587.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				123						c.(2518-2520)cgC>cgT		teashirt zinc finger homeobox 3		G		0,4406		0,0,2203	147.0	139.0	142.0		2520	-1.6	1.0	19		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		840/1082	31768179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57616	2	121412	35				g.chr19:31768179G>A	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.2520C>T	chr19.hg19:g.31768179G>A		0						p.R840R	NM_020856.2	NP_065907.2	1	2	3	2.010022	Q63HK5	TSH3_HUMAN		2	2847	-	Esophageal squamous(110;0.226)		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	1	1	hg19	c.2520C>T	CCDS12421.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_020856			149	147		524	514	1		1	1		0	0	124	0		1	9.962051e-01	0	4	0	28	0	149	524
S1PR4	8698	broad.mit.edu	37	19	3178948	3178948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3178948C>T	ENST00000246115.3	+	1	213	c.158C>T	c.(157-159)tCg>tTg	p.S53L	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	53					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGGCTGTCGGTGGCCGCC	0.711																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997156	0.990000	1.000000																										0				13						c.(157-159)tCg>tTg		sphingosine-1-phosphate receptor 4							3.0	3.0	3.0					19																	3178948		1815	3689	5504	SO:0001583	missense	8698	1	111324	22				g.chr19:3178948C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.158C>T	chr19.hg19:g.3178948C>T	ENSP00000246115:p.Ser53Leu	0					S1PR4_ENST00000591346.1_Intron	p.S53L	NM_003775.3	NP_003766.1	1	2	3	2.010022	O95977	S1PR4_HUMAN		1	213	+			D6W612	Missense_Mutation	SNP	ENST00000246115.3	1	1	hg19	c.158C>T	CCDS12105.1	1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252049	0.39797	.	.	ENSG00000125910	ENST00000246115	T	0.32988	1.43	3.73	2.68	0.31781	3.73	2.68	0.31781	.	0.294789	0.32068	N	0.006622	T	0.15089	0.0364	N	0.14661	0.345	0.29794	N	0.832973	B	0.15141	0.012	B	0.04013	0.001	T	0.08371	-1.0725	10	0.46703	T	0.11	.	4.6557	0.12617	0.0:0.2117:0.0:0.7883	.	53	O95977	S1PR4_HUMAN	L	53	ENSP00000246115:S53L	ENSP00000246115:S53L	S	+	2	0	0	S1PR4	3129948	3129948	0.991000	0.36638	0.039000	0.18376	0.953000	0.61014	1.912000	0.39946	0.505000	0.28104	0.462000	0.41574	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.909060	1	0.170000	NM_003775			8	8		31	31	0		1			0	0	14	0		9.920095e-01	0	0	0	0	0	0	8	31
S1PR4	8698	broad.mit.edu	37	19	3179636	3179636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	282					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.991190	0.990000	1.000000																										0				13						c.(844-846)gcC>gcT		sphingosine-1-phosphate receptor 4							76.0	76.0	76.0					19																	3179636		2203	4300	6503	SO:0001819	synonymous_variant	8698	0	0					g.chr19:3179636C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.846C>T	chr19.hg19:g.3179636C>T		0						p.A282A	NM_003775.3	NP_003766.1	1	2	3	2.010022	O95977	S1PR4_HUMAN		1	901	+			D6W612	Silent	SNP	ENST00000246115.3	1	1	hg19	c.846C>T	CCDS12105.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-3.075755	1	0.170000	NM_003775			74	74		713	707	0		1	0		0	0	131	0		1	4.555931e-01	0	0	0	16	0	74	713
NCLN	56926	broad.mit.edu	37	19	3192496	3192496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	71					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697																																						ENST00000246117.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(211-213)gaG>gaA		nicalin							15.0	15.0	15.0					19																	3192496		2175	4238	6413	SO:0001819	synonymous_variant	56926	0	0					g.chr19:3192496G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.213G>A	chr19.hg19:g.3192496G>A		0					NCLN_ENST00000590671.1_5'UTR	p.E71E	NM_020170.3	NP_064555.2	1	2	3	2.010022	Q969V3	NCLN_HUMAN		2	644	+		Hepatocellular(1079;0.137)	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	1	1	hg19	c.213G>A	CCDS32869.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	1	0	1		2	2	2	0		0	0	26		26	23	1	2.060000	-20.000000	1	0.170000	NM_020170			36	34		140	139	0		1	1	0	0	0	26	0		1	9.896772e-01	0	9	0	22	1	36	140
CELF5	60680	broad.mit.edu	37	19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000292672.2	+	6	734	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000541430.2_Missense_Mutation_p.L233M	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	233					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTGGGCATCCTGACGCCGTC	0.662																																						ENST00000292672.2	1.000000	0.230000	4.900000e-01	2.900000e-01	0.370000	0.425254	0.370000	0.360000																										0				13						c.(697-699)Ctg>Atg		CUGBP, Elav-like family member 5							103.0	89.0	94.0					19																	3281290		2203	4300	6503	SO:0001583	missense	60680	0	0					g.chr19:3281290C>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.697C>A	chr19.hg19:g.3281290C>A	ENSP00000292672:p.Leu233Met	0					CELF5_ENST00000541430.2_Missense_Mutation_p.L233M	p.L233M	NM_021938.3	NP_068757.2	1	2	3	2.010022	Q8N6W0	CELF5_HUMAN		6	734	+			D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	1	1	hg19	c.697C>A	CCDS12106.1	0	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291455	0.40494	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30981	2.16;1.59;1.51	3.73	2.39	0.29439	3.73	2.39	0.29439	.	0.272295	0.35378	N	0.003255	T	0.28234	0.0697	N	0.25992	0.78	0.37470	D	0.915569	B;P;B	0.51147	0.126;0.942;0.04	B;P;B	0.55824	0.043;0.785;0.027	T	0.16630	-1.0396	10	0.56958	D	0.05	-4.319	3.4995	0.07668	0.0:0.5817:0.0:0.4183	.	119;233;233	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	M	233;233;119	ENSP00000292672:L233M;ENSP00000443498:L233M;ENSP00000335182:L119M	ENSP00000292672:L233M	L	+	1	2	2	CELF5	3232290	3232290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.788000	0.38714	1.813000	0.52934	0.462000	0.41574	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	0	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-3.054661	1	0.170000	NM_021938			21	21		669	659	0		1	0		0	0	118	0		9.999971e-01	3.092450e-03	0	1	0	2	0	21	669
TSHZ3	57616	broad.mit.edu	37	19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	198					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)			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)					CTGCTCTGCCGGTACAGCTGC	0.627																																						ENST00000240587.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				123						c.(592-594)Cgg>Tgg		teashirt zinc finger homeobox 3							58.0	55.0	56.0					19																	31770107		2203	4300	6503	SO:0001583	missense	57616	0	0					g.chr19:31770107G>A	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.592C>T	chr19.hg19:g.31770107G>A	ENSP00000240587:p.Arg198Trp	0						p.R198W	NM_020856.2	NP_065907.2	1	2	3	2.010022	Q63HK5	TSH3_HUMAN		2	919	-	Esophageal squamous(110;0.226)		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	1	1	hg19	c.592C>T	CCDS12421.2	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306921	0.60305	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.42	3.11	0.35812	5.42	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72479	2.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	10	0.87932	D	0	-21.9214	12.0876	0.53706	0.0:0.0:0.4553:0.5447	.	198	Q63HK5	TSH3_HUMAN	W	198	ENSP00000240587:R198W	ENSP00000240587:R198W	R	-	1	2	2	TSHZ3	36461947	36461947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	1.217000	0.43442	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.045800	1	0.170000	NM_020856			88	86		354	348	1		1	0		0	0	91	0		1	9.388319e-01	0	0	0	21	0	88	354
DPY19L3	147991	broad.mit.edu	37	19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCCTATGTAGCCCTGAAATA	0.438																																						ENST00000342179.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1501-1503)aGc>aAc		dpy-19-like 3 (C. elegans)							247.0	220.0	230.0					19																	32954831		2203	4300	6503	SO:0001583	missense	147991	0	0					g.chr19:32954831G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1502G>A	chr19.hg19:g.32954831G>A	ENSP00000344937:p.Ser501Asn	0					DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N	p.S501N	NM_207325.2	NP_997208.2	1	2	3	2.010022	Q6ZPD9	D19L3_HUMAN		14	1717	+	Esophageal squamous(110;0.162)		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	1	1	hg19	c.1502G>A	CCDS12422.1	1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905790	0.72868	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.61980	0.06;0.06	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.67192	0.2867	M	0.67569	2.06	0.41464	D	0.988064	B	0.32324	0.364	B	0.38106	0.265	T	0.71741	-0.4501	10	0.72032	D	0.01	-17.6341	18.1687	0.89737	0.0:0.0:1.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	N	501	ENSP00000376081:S501N;ENSP00000344937:S501N	ENSP00000315672:S501N	S	+	2	0	0	DPY19L3	37646671	37646671	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	1	0	1		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_207325			148	149		663	651	1		1	1		0	0	175	0		1	9.159475e-01	0	2	0	19	0	148	663
DPY19L3	147991	broad.mit.edu	37	19	32971376	32971376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000392250.2_Silent_p.Y634Y|DPY19L3_ENST00000586987.1_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	634						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCACTGACTACGTAATCCTGG	0.552																																						ENST00000342179.5	1.000000	0.180000	5.700000e-01	2.700000e-01	0.390000	0.443495	0.390000	0.360000																										0				32						c.(1900-1902)taC>taT		dpy-19-like 3 (C. elegans)							67.0	63.0	64.0					19																	32971376		2203	4300	6503	SO:0001819	synonymous_variant	147991	0	0					g.chr19:32971376C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1902C>T	chr19.hg19:g.32971376C>T		0					DPY19L3_ENST00000392250.2_Silent_p.Y634Y|DPY19L3_ENST00000586987.1_Silent_p.Y634Y	p.Y634Y	NM_207325.2	NP_997208.2	1	2	3	2.010022	Q6ZPD9	D19L3_HUMAN		18	2117	+	Esophageal squamous(110;0.162)		Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	1	1	hg19	c.1902C>T	CCDS12422.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-9.771517	1	0.170000	NM_207325			9	9		285	279	0		1	0		0	0	49	0		9.937612e-01	2.319647e-01	0	0	0	27	0	9	285
PDCD5	9141	broad.mit.edu	37	19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000590247.2	+	4	431	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000419343.3_Missense_Mutation_p.R79S|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	79					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)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348																																						ENST00000590247.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(235-237)agA>agT		programmed cell death 5							106.0	112.0	110.0					19																	33076792		2203	4300	6503	SO:0001583	missense	9141	0	0					g.chr19:33076792A>T	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.237A>T	chr19.hg19:g.33076792A>T	ENSP00000466214:p.Arg79Ser	0					PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.R79S	p.R79S	NM_004708.3	NP_004699.1	1	2	3	2.010022	O14737	PDCD5_HUMAN		4	431	+	Esophageal squamous(110;0.137)		B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	1	1	hg19	c.237A>T	CCDS12423.1	1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	0.88	0.19161	5.6	0.88	0.19161	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.46157	1.445	0.80722	D	1	P;B	0.37573	0.6;0.083	B;B	0.42625	0.393;0.137	T	0.22034	-1.0228	9	0.56958	D	0.05	-9.985	4.5168	0.11939	0.6197:0.0:0.2468:0.1334	.	79;79	O14737;B4DE64	PDCD5_HUMAN;.	S	79	.	ENSP00000221784:R79S	R	+	3	2	2	PDCD5	37768632	37768632	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	0.724000	0.25954	-0.187000	0.10516	0.460000	0.39030	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	0	0	1		2	24	2	1		1	0	102		102	103	1	2.060000	-20.000000	1	0.170000	NM_004708			72	68		304	297	1		1	1		1	0	102	0		1	1	0	249	0	523	0	72	304
RGS9BP	388531	broad.mit.edu	37	19	33167833	33167833	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	222					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721																																						ENST00000334176.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				3						c.(664-666)Ctg>Ttg		regulator of G protein signaling 9 binding protein							7.0	10.0	9.0					19																	33167833		1756	3593	5349	SO:0001819	synonymous_variant	388531	0	0					g.chr19:33167833C>T	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.664C>T	chr19.hg19:g.33167833C>T		0					ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	p.L222L	NM_207391.2	NP_997274.2	1	2	3	2.010022	Q6ZS82	R9BP_HUMAN		1	1521	+	Esophageal squamous(110;0.137)		Q6ZVJ6	Silent	SNP	ENST00000334176.3	1	1	hg19	c.664C>T	CCDS12424.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_207391			22	22		105	105	0		1			0	0	14	0		9.999994e-01	0	0	0	0	0	0	22	105
NUDT19	390916	broad.mit.edu	37	19	33183175	33183175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721																																						ENST00000397061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(307-309)tcG>tcA		nudix (nucleoside diphosphate linked moiety X)-type motif 19							20.0	24.0	23.0					19																	33183175		2101	4210	6311	SO:0001819	synonymous_variant	390916	0	0					g.chr19:33183175G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.309G>A	chr19.hg19:g.33183175G>A		0					CTD-2538C1.2_ENST00000592431.1_lincRNA	p.S103S	NM_001105570.1	NP_001099040.1	1	2	3	2.010022	A8MXV4	NUD19_HUMAN		1	309	+	Esophageal squamous(110;0.137)			Silent	SNP	ENST00000397061.3	1	1	hg19	c.309G>A	CCDS42543.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	XM_372723			56	56		238	235	0		1	0		0	0	44	0		1	0	0	1	0	0	0	56	238
NUDT19	390916	broad.mit.edu	37	19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	303						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473																																						ENST00000397061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(907-909)gTc>gCc		nudix (nucleoside diphosphate linked moiety X)-type motif 19							135.0	122.0	126.0					19																	33200284		1967	4149	6116	SO:0001583	missense	390916	0	0					g.chr19:33200284T>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.908T>C	chr19.hg19:g.33200284T>C	ENSP00000380251:p.Val303Ala	0						p.V303A	NM_001105570.1	NP_001099040.1	1	2	3	2.010022	A8MXV4	NUD19_HUMAN		2	908	+	Esophageal squamous(110;0.137)			Missense_Mutation	SNP	ENST00000397061.3	1	1	hg19	c.908T>C	CCDS42543.1	1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543265	0.45280	.	.	ENSG00000213965	ENST00000397061	T	0.50548	0.74	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.318283	0.26567	U	0.023647	T	0.40956	0.1138	L	0.49778	1.585	0.21290	N	0.999736	B	0.29716	0.255	B	0.27262	0.078	T	0.38308	-0.9667	10	0.46703	T	0.11	-16.3334	10.961	0.47385	0.0:0.0:0.0:1.0	.	303	A8MXV4	NUD19_HUMAN	A	303	ENSP00000380251:V303A	ENSP00000380251:V303A	V	+	2	0	0	NUDT19	37892124	37892124	0.088000	0.21588	0.036000	0.18154	0.087000	0.18053	4.148000	0.58085	1.891000	0.54761	0.482000	0.46254	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	0		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	XM_372723			71	71		376	367	1		1	1		0	0	86	0		1	9.899082e-01	0	9	0	31	0	71	376
NUDT19	390916	broad.mit.edu	37	19	33202821	33202821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	362						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408																																						ENST00000397061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1084-1086)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 19							146.0	139.0	142.0					19																	33202821		1906	4125	6031	SO:0001819	synonymous_variant	390916	0	0					g.chr19:33202821C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.1086C>T	chr19.hg19:g.33202821C>T		0						p.H362H	NM_001105570.1	NP_001099040.1	1	2	3	2.010022	A8MXV4	NUD19_HUMAN		3	1086	+	Esophageal squamous(110;0.137)			Silent	SNP	ENST00000397061.3	1	1	hg19	c.1086C>T	CCDS42543.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	XM_372723			113	109		591	581	1		1	1		0	0	119	0		1	9.976393e-01	0	11	0	38	0	113	591
SLC7A9	11136	broad.mit.edu	37	19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|RN7SKP22_ENST00000365097.1_RNA	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	62					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)			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)	CAGGGCCCCACAGCTTCCGTG	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32	GRCh37	CM050099	SLC7A9	M		c.(184-186)Gtg>Atg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						125.0	117.0	120.0					19																	33355586		2203	4300	6503	SO:0001583	missense	11136	0	0					g.chr19:33355586C>T	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.184G>A	chr19.hg19:g.33355586C>T	ENSP00000023064:p.Val62Met	0					RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M	p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	1	2	3	2.010022	P82251	BAT1_HUMAN		3	375	-	Esophageal squamous(110;0.137)		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	1	1	hg19	c.184G>A	CCDS12425.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196535	0.79015	.	.	ENSG00000021488	ENST00000023064	D	0.90504	-2.68	5.13	5.13	0.70059	5.13	5.13	0.70059	Amino acid permease domain (1);	0.055402	0.64402	D	0.000001	D	0.96024	0.8705	H	0.94264	3.515	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.96517	0.9383	10	0.72032	D	0.01	.	12.3425	0.55101	0.0:0.922:0.0:0.078	.	62	P82251	BAT1_HUMAN	M	62	ENSP00000023064:V62M	ENSP00000023064:V62M	V	-	1	0	0	SLC7A9	38047426	38047426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.091000	0.71406	2.565000	0.86533	0.462000	0.41574	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1	1	0	0		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000				145	141		646	638	1		1	1		0	0	139	0		1	8.444308e-01	0	2	0	14	0	145	646
SLC7A9	11136	broad.mit.edu	37	19	33355629	33355629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G|RN7SKP22_ENST00000365097.1_RNA	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	47					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)			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)	AAACGAAGATCCCAGAGCCAA	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(139-141)ggG>ggA		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						170.0	155.0	160.0					19																	33355629		2203	4300	6503	SO:0001819	synonymous_variant	11136	0	0					g.chr19:33355629C>T	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.141G>A	chr19.hg19:g.33355629C>T		0					RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.G47G|SLC7A9_ENST00000590341.1_Silent_p.G47G	p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	1	2	3	2.010022	P82251	BAT1_HUMAN		3	332	-	Esophageal squamous(110;0.137)		B2R9A6	Silent	SNP	ENST00000023064.4	1	1	hg19	c.141G>A	CCDS12425.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1	1	0	0		2	2	2	0		0	0	183		183	182	1	2.060000	-20.000000	1	0.170000				169	168		780	767	1		1	1		0	0	183	0		1	8.051994e-01	0	14	0	2	0	169	780
C19orf40	91442	broad.mit.edu	37	19	33464384	33464384	+	Silent	SNP	G	G	A	rs146261594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33464384G>A	ENST00000588258.1	+	3	269	c.159G>A	c.(157-159)tcG>tcA	p.S53S	CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000589646.1_5'UTR|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590281.1_Silent_p.S53S|C19orf40_ENST00000590179.1_Intron	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	53					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTTATCTGTCGAACAGATGCT	0.403								Direct reversal of damage																														ENST00000588258.1	1.000000	0.190000	4.100000e-01	2.500000e-01	0.310000	0.373671	0.310000	0.300000																										0				7						c.(157-159)tcG>tcA	Direct reversal of damage	chromosome 19 open reading frame 40		G		0,4406		0,0,2203	164.0	154.0	157.0		159	-9.8	0.0	19	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C19orf40	NM_152266.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		53/216	33464384	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	91442	6	121412	43				g.chr19:33464384G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.159G>A	chr19.hg19:g.33464384G>A		0					C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590281.1_Silent_p.S53S|CEP89_ENST00000591863.1_5'Flank	p.S53S	NM_152266.3	NP_689479.1	1	2	3	2.010022	Q9BTP7	FAP24_HUMAN		3	269	+	Esophageal squamous(110;0.137)		B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	1	1	hg19	c.159G>A	CCDS12426.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	0	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-2.381070	0	0.170000	NM_152266			22	22		828	793	0		1	0		0	0	146	0		9.999979e-01	4.767181e-02	0	0	0	13	0	22	828
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				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)					GGTGCTGGGCGTACGTGAGCC	0.622													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17949	0.0		0.0	False		,,,				2504	0.0					ENST00000254260.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1360-1362)taC>taT		rhophilin, Rho GTPase binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	83.0	66.0	72.0		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85415	61	121412	48				g.chr19:33486990G>A	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.1362C>T	chr19.hg19:g.33486990G>A		0					RHPN2_ENST00000400226.4_Silent_p.Y303Y	p.Y454Y	NM_033103.4	NP_149094.3	1	2	3	2.010022	Q8IUC4	RHPN2_HUMAN		11	1397	-	Esophageal squamous(110;0.137)		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	1	1	hg19	c.1362C>T	CCDS12427.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	1	0	1		2	2	2	0		0	0	80		80	81	1	2.060000	-20.000000	1	0.170000	NM_033103			69	66		355	334	0		1	1		0	0	80	0		1	1	0	233	0	191	0	69	355
GPATCH1	55094	broad.mit.edu	37	19	33588747	33588747	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	313					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTCTGAAGGACGAGGAGCCTG	0.463																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(937-939)gaC>gaT		G patch domain containing 1							191.0	191.0	191.0					19																	33588747		2203	4300	6503	SO:0001819	synonymous_variant	55094	1	121412	35				g.chr19:33588747C>T	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.939C>T	chr19.hg19:g.33588747C>T		0						p.D313D	NM_018025.2	NP_060495.2	1	2	3	2.010022	Q9BRR8	GPTC1_HUMAN		8	1253	+	Esophageal squamous(110;0.137)		Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	1	1	hg19	c.939C>T	CCDS12428.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	1	0	1		2	2	2	0		0	0	231		231	229	1	2.060000	-20.000000	1	0.170000	NM_018025			170	169		940	925	0		1	1		0	0	231	0		1	9.886409e-01	0	5	0	35	0	170	940
WDR88	126248	broad.mit.edu	37	19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000355868.3	+	7	1010	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000361680.2_Missense_Mutation_p.A312S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	312										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)					AAACTGTGGAGCCTGTGTGAC	0.473																																						ENST00000355868.3	1.000000	0.850000	1	9.800000e-01	0.990000	0.987069	0.990000	1.000000																										0				25						c.(934-936)Gcc>Tcc		WD repeat domain 88							108.0	103.0	105.0					19																	33647385		2203	4300	6503	SO:0001583	missense	126248	0	0					g.chr19:33647385G>T	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.934G>T	chr19.hg19:g.33647385G>T	ENSP00000348129:p.Ala312Ser	0					WDR88_ENST00000361680.2_Missense_Mutation_p.A312S	p.A312S	NM_173479.3	NP_775750.3	1	2	3	2.010022	Q6ZMY6	WDR88_HUMAN		7	1010	+	Esophageal squamous(110;0.137)		Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	1	1	hg19	c.934G>T	CCDS12429.1	1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020014	0.35606	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.38887	1.11;1.11	5.59	5.59	0.84812	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.147620	0.06325	N	0.705236	T	0.52629	0.1746	L	0.38649	1.16	0.24566	N	0.99394	D	0.61080	0.989	P	0.60173	0.87	T	0.42999	-0.9418	10	0.20046	T	0.44	.	13.2963	0.60298	0.0:0.2597:0.7403:0.0	.	312	Q6ZMY6	WDR88_HUMAN	S	312	ENSP00000348129:A312S;ENSP00000355148:A312S	ENSP00000348129:A312S	A	+	1	0	0	WDR88	38339225	38339225	1.000000	0.71417	0.980000	0.43619	0.111000	0.19643	3.803000	0.55560	2.639000	0.89480	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_173479			46	45		435	422	1		1			0	0	87	0		1	0	0	0	0	0	0	46	435
LRP3	4037	broad.mit.edu	37	19	33696342	33696342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741																																						ENST00000253193.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999733	0.990000	1.000000																										0				15						c.(664-666)gcG>gcA		low density lipoprotein receptor-related protein 3							8.0	10.0	9.0					19																	33696342		2148	4211	6359	SO:0001819	synonymous_variant	4037	1	117726	20				g.chr19:33696342G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.666G>A	chr19.hg19:g.33696342G>A		0					CTD-2540B15.13_ENST00000609744.1_RNA	p.A222A	NM_002333.3	NP_002324.2	1	2	3	2.010022	O75074	LRP3_HUMAN		5	868	+	Esophageal squamous(110;0.137)		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	1	1	hg19	c.666G>A	CCDS12430.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000				16	16		72	69	0		1	1		0	0	14	0		9.999498e-01	3.904595e-01	0	2	0	5	0	16	72
LRP3	4037	broad.mit.edu	37	19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	326	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721																																						ENST00000253193.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999384	0.990000	1.000000																										0				15						c.(976-978)Tcc>Ccc		low density lipoprotein receptor-related protein 3							8.0	11.0	10.0					19																	33696652		2139	4201	6340	SO:0001583	missense	4037	0	0					g.chr19:33696652T>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.976T>C	chr19.hg19:g.33696652T>C	ENSP00000253193:p.Ser326Pro	0					CTD-2540B15.13_ENST00000609744.1_RNA	p.S326P	NM_002333.3	NP_002324.2	1	2	3	2.010022	O75074	LRP3_HUMAN		5	1178	+	Esophageal squamous(110;0.137)		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	1	1	hg19	c.976T>C	CCDS12430.1	1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627330	0.66901	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.18960	2.18	5.02	5.02	0.67125	5.02	5.02	0.67125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.60455	1.87	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.985;0.993;0.985	T	0.26677	-1.0096	10	0.54805	T	0.06	-44.833	13.9237	0.63950	0.0:0.0:0.0:1.0	.	200;326;244	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	P	200;326	ENSP00000253193:S326P	ENSP00000253193:S326P	S	+	1	0	0	LRP3	38388492	38388492	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.917000	0.63369	1.897000	0.54924	0.260000	0.18958	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000				17	17		90	87	0		1	1	0	0	0	17	0		9.999733e-01	9.138485e-01	0	5	0	20	1	17	90
SLC7A10	56301	broad.mit.edu	37	19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A	rs567777677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	367					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667																																						ENST00000253188.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1099-1101)Gcc>Tcc		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							52.0	49.0	50.0					19																	33701722		2202	4296	6498	SO:0001583	missense	56301	0	0					g.chr19:33701722C>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1099G>T	chr19.hg19:g.33701722C>A	ENSP00000253188:p.Ala367Ser	0						p.A367S	NM_019849.2	NP_062823.1	1	2	3	2.010022	Q9NS82	AAA1_HUMAN		8	1245	-	Esophageal squamous(110;0.137)		B2RE84	Missense_Mutation	SNP	ENST00000253188.4	1	1	hg19	c.1099G>T	CCDS12431.1	1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725940	0.69074	.	.	ENSG00000130876	ENST00000253188	D	0.91521	-2.86	5.08	5.08	0.68730	5.08	5.08	0.68730	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.90735	0.4645	10	0.16896	T	0.51	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	367;214	Q9NS82;Q9NWI3	AAA1_HUMAN;.	S	367	ENSP00000253188:A367S	ENSP00000253188:A367S	A	-	1	0	0	SLC7A10	38393562	38393562	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.590000	0.82653	2.536000	0.85505	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	0	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-3.472002	1	0.170000	NM_019849			128	124		510	504	1		1			0	0	133	0		1	0	0	0	0	0	0	128	510
NFIC	4782	broad.mit.edu	37	19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000443272.2	+	2	292	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000589123.1_Missense_Mutation_p.R72C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	81					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672																																						ENST00000443272.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(241-243)Cgc>Tgc		nuclear factor I/C (CCAAT-binding transcription factor)							80.0	87.0	85.0					19																	3381920		2203	4300	6503	SO:0001583	missense	4782	0	0					g.chr19:3381920C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.241C>T	chr19.hg19:g.3381920C>T	ENSP00000396843:p.Arg81Cys	0					NFIC_ENST00000589123.1_Missense_Mutation_p.R72C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C	p.R81C	NM_001245002.1	NP_001231931.1	1	2	3	2.010022	P08651	NFIC_HUMAN		2	292	+		Hepatocellular(1079;0.137)	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	1	1	hg19	c.241C>T	CCDS59330.1	1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363580	0.61513	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.78246	-1.16;-1.16;-1.16	3.88	1.71	0.24356	3.88	1.71	0.24356	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.82851	-0.0253	10	0.87932	D	0	.	8.8194	0.35016	0.0:0.8083:0.0:0.1917	.	81;81;72;81;72	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	72;72;72;81;81;81	ENSP00000378543:R72C;ENSP00000301935:R72C;ENSP00000342194:R81C	ENSP00000269778:R81C	R	+	1	0	0	NFIC	3332920	3332920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.438000	0.44837	0.251000	0.21505	-0.373000	0.07131	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_005597			171	169		671	665	1		1	1		0	0	120	0		1	1	0	10	0	125	0	171	671
SLC7A10	56301	broad.mit.edu	37	19	33706682	33706682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.4	-	2	495	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	117					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACCCAGCCAGGCCCCCGAAG	0.652																																						ENST00000253188.4	1.000000	0.470000	1	8.700000e-01	0.990000	0.941139	0.990000	1.000000																										0				18						c.(349-351)Ctg>Atg		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							32.0	28.0	30.0					19																	33706682		2148	4228	6376	SO:0001583	missense	56301	0	0					g.chr19:33706682G>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.349C>A	chr19.hg19:g.33706682G>T	ENSP00000253188:p.Leu117Met	0					CTD-2540B15.6_ENST00000590492.1_RNA	p.L117M	NM_019849.2	NP_062823.1	1	2	3	2.010022	Q9NS82	AAA1_HUMAN		2	495	-	Esophageal squamous(110;0.137)		B2RE84	Missense_Mutation	SNP	ENST00000253188.4	0	1	hg19	c.349C>A	CCDS12431.1	1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685885	0.68157	.	.	ENSG00000130876	ENST00000253188	D	0.90900	-2.75	4.79	4.79	0.61399	4.79	4.79	0.61399	Amino acid permease domain (1);	0.076843	0.53938	D	0.000058	D	0.93651	0.7972	M	0.75615	2.305	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93389	0.6750	10	0.72032	D	0.01	.	7.0484	0.25059	0.1969:0.0:0.8031:0.0	.	117	Q9NS82	AAA1_HUMAN	M	117	ENSP00000253188:L117M	ENSP00000253188:L117M	L	-	1	2	2	SLC7A10	38398522	38398522	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.879000	0.39618	2.240000	0.73641	0.456000	0.33151	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	0	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-9.315748	1	0.170000	NM_019849			3	3		19	19	0		1			0	0	8	0		8.130081e-01	0	0	0	0	0	0	3	19
CHST8	64377	broad.mit.edu	37	19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.3_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	173					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)			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)					GAGCAGCAGCCGCCGGGCCGT	0.706																																						ENST00000262622.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(517-519)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							11.0	13.0	13.0					19																	34263210		2168	4219	6387	SO:0001583	missense	64377	0	0					g.chr19:34263210C>T	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.517C>T	chr19.hg19:g.34263210C>T	ENSP00000262622:p.Arg173Cys	0					CHST8_ENST00000438847.3_Missense_Mutation_p.R173C|CHST8_ENST00000434302.1_Missense_Mutation_p.R173C	p.R173C	NM_022467.3	NP_071912.2	1	2	3	2.010022	Q9H2A9	CHST8_HUMAN		4	1275	+	Esophageal squamous(110;0.162)		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	1	1	hg19	c.517C>T	CCDS12433.1	1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547527	0.65311	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75477	-0.94;-0.94;-0.94	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.420672	0.21221	N	0.078156	T	0.76955	0.4060	L	0.32530	0.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.63703	0.917	T	0.75233	-0.3390	10	0.36615	T	0.2	-4.1341	12.8387	0.57788	0.1745:0.8255:0.0:0.0	.	173	Q9H2A9	CHST8_HUMAN	C	173	ENSP00000392604:R173C;ENSP00000393879:R173C;ENSP00000262622:R173C	ENSP00000262622:R173C	R	+	1	0	0	CHST8	38955050	38955050	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.078000	0.41567	2.262000	0.75019	0.478000	0.44815	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_022467			44	43		170	166	0		1			0	0	26	0		1	0	0	0	0	0	0	44	170
CHST8	64377	broad.mit.edu	37	19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.3_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					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)			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)					GCTCTTTGTCCGCGAGCCCTT	0.607																																						ENST00000262622.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(772-774)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							113.0	103.0	107.0					19																	34263465		2203	4300	6503	SO:0001583	missense	64377	2	121412	36				g.chr19:34263465C>T	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.772C>T	chr19.hg19:g.34263465C>T	ENSP00000262622:p.Arg258Cys	0					CHST8_ENST00000438847.3_Missense_Mutation_p.R258C|CHST8_ENST00000434302.1_Missense_Mutation_p.R258C	p.R258C	NM_022467.3	NP_071912.2	1	2	3	2.010022	Q9H2A9	CHST8_HUMAN		4	1530	+	Esophageal squamous(110;0.162)		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	1	1	hg19	c.772C>T	CCDS12433.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581599	0.65992	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	D;D;D	0.94376	-3.41;-3.41;-3.41	4.73	3.68	0.42216	4.73	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.97288	0.9113	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-3.592	13.2052	0.59790	0.1607:0.8393:0.0:0.0	.	258	Q9H2A9	CHST8_HUMAN	C	258	ENSP00000392604:R258C;ENSP00000393879:R258C;ENSP00000262622:R258C	ENSP00000262622:R258C	R	+	1	0	0	CHST8	38955305	38955305	1.000000	0.71417	0.587000	0.28692	0.791000	0.44710	4.738000	0.62073	0.943000	0.37553	0.297000	0.19635	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	1		2	2	2	0		0	0	99		99	96	1	2.060000	-2.841594	1	0.170000	NM_022467			114	111		491	480	1		1	0		0	0	99	0		1	0	0	0	0	1	0	114	491
NFIC	4782	broad.mit.edu	37	19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A	rs552912326	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000443272.2	+	8	1141	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000589123.1_Missense_Mutation_p.A355T	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	364					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		13230	0.0		0.0	False		,,,				2504	0.002					ENST00000443272.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1090-1092)Gcc>Acc		nuclear factor I/C (CCAAT-binding transcription factor)							163.0	160.0	161.0					19																	3452485		2203	4300	6503	SO:0001583	missense	4782	8	121412	50				g.chr19:3452485G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1090G>A	chr19.hg19:g.3452485G>A	ENSP00000396843:p.Ala364Thr	0					NFIC_ENST00000589123.1_Missense_Mutation_p.A355T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T	p.A364T	NM_001245002.1	NP_001231931.1	1	2	3	2.010022	P08651	NFIC_HUMAN		8	1141	+		Hepatocellular(1079;0.137)	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	1	1	hg19	c.1090G>A	CCDS59330.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665287	0.29604	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.46063	0.88;0.88;0.88	4.16	3.12	0.35913	4.16	3.12	0.35913	.	0.208639	0.40908	N	0.001000	T	0.30634	0.0771	L	0.39020	1.185	0.28084	N	0.932087	B;B;B;B;B	0.23377	0.044;0.084;0.007;0.007;0.017	B;B;B;B;B	0.17979	0.01;0.02;0.004;0.004;0.012	T	0.15521	-1.0434	10	0.30078	T	0.28	.	10.8694	0.46875	0.0944:0.0:0.9056:0.0	.	364;364;355;364;355	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	355;355;331;364;364;364	ENSP00000378543:A355T;ENSP00000301935:A331T;ENSP00000342194:A364T	ENSP00000269778:A364T	A	+	1	0	0	NFIC	3403485	3403485	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.666000	0.46799	0.757000	0.33036	-0.226000	0.12346	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	1	0	1		2	2	2	0		0	0	311		311	304	1	2.060000	-20.000000	1	0.170000	NM_005597			312	303		1410	1371	1		1	1		0	0	311	0		1	1	0	11	0	222	0	312	1410
CHST8	64377	broad.mit.edu	37	19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.3_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	393					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)			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)					CCAGTACTTCGCCCAACTCTC	0.602																																						ENST00000262622.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1177-1179)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							50.0	53.0	52.0					19																	34263870		2203	4300	6503	SO:0001583	missense	64377	0	0					g.chr19:34263870G>A	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.1177G>A	chr19.hg19:g.34263870G>A	ENSP00000262622:p.Ala393Thr	0					CHST8_ENST00000438847.3_Missense_Mutation_p.A393T|CHST8_ENST00000434302.1_Missense_Mutation_p.A393T	p.A393T	NM_022467.3	NP_071912.2	1	2	3	2.010022	Q9H2A9	CHST8_HUMAN		4	1935	+	Esophageal squamous(110;0.162)		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	1	1	hg19	c.1177G>A	CCDS12433.1	1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940439	0.18281	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	1.49	0.22878	5.01	1.49	0.22878	.	0.304937	0.30820	N	0.008803	T	0.60843	0.2300	L	0.43757	1.38	0.44985	D	0.998006	B	0.10296	0.003	B	0.13407	0.009	T	0.45906	-0.9229	10	0.23302	T	0.38	-16.628	7.4665	0.27324	0.0819:0.0:0.6276:0.2906	.	393	Q9H2A9	CHST8_HUMAN	T	393	ENSP00000392604:A393T;ENSP00000393879:A393T;ENSP00000262622:A393T	ENSP00000262622:A393T	A	+	1	0	0	CHST8	38955710	38955710	0.964000	0.33143	0.410000	0.26471	0.260000	0.26232	0.929000	0.28844	0.103000	0.17682	0.297000	0.19635	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_022467			53	53		206	205	1		1	0		0	0	40	0		1	4.343248e-02	0	0	0	2	0	53	206
LSM14A	26065	broad.mit.edu	37	19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000433627.5	+	1	191	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V|LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	39					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTAGCCCTTGCCAAAGGTACG	0.687																																						ENST00000433627.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999079	0.990000	1.000000																										0				22						c.(115-117)gCc>gTc		LSM14A, SCD6 homolog A (S. cerevisiae)							54.0	50.0	51.0					19																	34663663		2202	4300	6502	SO:0001583	missense	26065	0	0					g.chr19:34663663C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.116C>T	chr19.hg19:g.34663663C>T	ENSP00000413964:p.Ala39Val	0					LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V	p.A39V	NM_001114093.1	NP_001107565.1	1	2	3	2.010022	Q8ND56	LS14A_HUMAN		1	191	+	Esophageal squamous(110;0.162)		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	1	1	hg19	c.116C>T	CCDS46040.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.181813	0.94885	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.33;1.4	4.75	4.75	0.60458	4.75	4.75	0.60458	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.107342	0.64402	D	0.000006	T	0.61502	0.2352	M	0.84846	2.72	0.80722	D	1	D;B;P	0.57571	0.98;0.089;0.889	P;B;P	0.60541	0.876;0.187;0.731	T	0.66602	-0.5882	10	0.42905	T	0.14	-5.5106	17.3421	0.87299	0.0:1.0:0.0:0.0	.	39;39;39	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	V	39	ENSP00000446271:A39V;ENSP00000413964:A39V;ENSP00000446451:A39V	ENSP00000314768:A39V	A	+	2	0	0	LSM14A	39355503	39355503	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.225000	0.78051	2.171000	0.68590	0.484000	0.47621	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_015578			17	17		95	94	0		1	1		0	0	28	0		9.999769e-01	1	0	88	0	292	0	17	95
LSM14A	26065	broad.mit.edu	37	19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000433627.5	+	7	889	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C|LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438																																						ENST00000433627.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R272C(1)	large_intestine(1)	22						c.(814-816)Cgt>Tgt		LSM14A, SCD6 homolog A (S. cerevisiae)							68.0	79.0	75.0					19																	34710328		2203	4300	6503	SO:0001583	missense	26065	0	0					g.chr19:34710328C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.814C>T	chr19.hg19:g.34710328C>T	ENSP00000413964:p.Arg272Cys	0					LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C	p.R272C	NM_001114093.1	NP_001107565.1	1	2	3	2.010022	Q8ND56	LS14A_HUMAN		7	889	+	Esophageal squamous(110;0.162)		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	1	1	hg19	c.814C>T	CCDS46040.1	1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190986	0.58017	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.38401	1.18;1.16;1.14	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.80746	2.51	0.80722	D	1	B;D;B	0.89917	0.362;1.0;0.263	B;D;B	0.79784	0.117;0.993;0.051	T	0.62548	-0.6831	10	0.48119	T	0.1	-10.3844	14.8295	0.70137	0.1438:0.8562:0.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	272;272;231	ENSP00000446271:R272C;ENSP00000413964:R272C;ENSP00000446451:R231C	ENSP00000314768:R272C	R	+	1	0	0	LSM14A	39402168	39402168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	2.734000	0.93682	0.655000	0.94253	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-2.879485	1	0.170000	NM_015578			87	83		535	522	1		1	1		0	0	92	0		1	9.915379e-01	0	8	0	39	0	87	535
LSM14A	26065	broad.mit.edu	37	19	34710699	34710699	+	Silent	SNP	C	C	T	rs201997010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000433627.5	+	8	1128	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_ENST00000544216.3_Silent_p.A351A|LSM14A_ENST00000540746.2_Silent_p.A310A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	351					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAAATGCCGATGAAGAAG	0.353																																						ENST00000433627.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1051-1053)gcC>gcT		LSM14A, SCD6 homolog A (S. cerevisiae)							86.0	81.0	83.0					19																	34710699		2203	4300	6503	SO:0001819	synonymous_variant	26065	0	0					g.chr19:34710699C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1053C>T	chr19.hg19:g.34710699C>T		0					LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000544216.3_Silent_p.A351A	p.A351A	NM_001114093.1	NP_001107565.1	1	2	3	2.010022	Q8ND56	LS14A_HUMAN		8	1128	+	Esophageal squamous(110;0.162)		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	1	1	hg19	c.1053C>T	CCDS46040.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.176552	1	0.170000	NM_015578			36	34		139	137	1		1	1		0	0	30	0		1	1	0	103	0	359	0	36	139
KIAA0355	9710	broad.mit.edu	37	19	34791678	34791678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547																																						ENST00000299505.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(298-300)ctC>ctA		KIAA0355							73.0	62.0	66.0					19																	34791678		2203	4300	6503	SO:0001819	synonymous_variant	9710	0	0					g.chr19:34791678C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.300C>A	chr19.hg19:g.34791678C>A		0						p.L100L	NM_014686.3	NP_055501.2	1	2	3	2.010022	O15063	K0355_HUMAN		2	1173	+	Esophageal squamous(110;0.162)		Q2M3W4	Silent	SNP	ENST00000299505.6	1	1	hg19	c.300C>A	CCDS12436.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_014686			76	71		256	252	1		1	1		0	0	53	0		1	9.999351e-01	0	3	0	48	0	76	256
KIAA0355	9710	broad.mit.edu	37	19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632																																						ENST00000299505.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2119-2121)gCa>gTa		KIAA0355							82.0	85.0	84.0					19																	34832959		2203	4300	6503	SO:0001583	missense	9710	0	0					g.chr19:34832959C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2120C>T	chr19.hg19:g.34832959C>T	ENSP00000299505:p.Ala707Val	0						p.A707V	NM_014686.3	NP_055501.2	1	2	3	2.010022	O15063	K0355_HUMAN		10	2993	+	Esophageal squamous(110;0.162)		Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	1	1	hg19	c.2120C>T	CCDS12436.1	1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368916	0.61624	.	.	ENSG00000166398	ENST00000299505	T	0.25749	1.78	5.53	4.5	0.54988	5.53	4.5	0.54988	.	0.548014	0.19528	N	0.112116	T	0.18841	0.0452	N	0.19112	0.55	0.35247	D	0.778351	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.87932	D	0	-8.4863	13.4084	0.60926	0.0:0.9245:0.0:0.0755	.	707	O15063	K0355_HUMAN	V	707	ENSP00000299505:A707V	ENSP00000299505:A707V	A	+	2	0	0	KIAA0355	39524799	39524799	0.735000	0.28153	0.988000	0.46212	0.957000	0.61999	4.101000	0.57769	1.344000	0.45657	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_014686			116	114		540	524	1		1	1		0	0	105	0		1	9.992290e-01	0	7	0	44	0	116	540
GPI	2821	broad.mit.edu	37	19	34884918	34884918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34884918G>A	ENST00000356487.5	+	12	1250	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	GPI_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000415930.3_Missense_Mutation_p.A348T	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	337					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)			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)					TGAGACACACGCCATGCTGCC	0.602																																						ENST00000356487.5	1.000000	0.280000	6.000000e-01	3.500000e-01	0.450000	0.500549	0.450000	0.440000																										0				25						c.(1009-1011)Gcc>Acc		glucose-6-phosphate isomerase							103.0	92.0	95.0					19																	34884918		2203	4300	6503	SO:0001583	missense	2821	0	0					g.chr19:34884918G>A	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.1009G>A	chr19.hg19:g.34884918G>A	ENSP00000348877:p.Ala337Thr	0					GPI_ENST00000415930.3_Missense_Mutation_p.A348T|GPI_ENST00000586425.1_Missense_Mutation_p.A337T	p.A337T	NM_000175.3	NP_000166.2	1	2	3	2.010022	P06744	G6PI_HUMAN		12	1250	+	Esophageal squamous(110;0.162)		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	0	1	hg19	c.1009G>A	CCDS12437.1	0	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681633	0.68042	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94687	-3.49;-3.49	5.48	4.45	0.53987	5.48	4.45	0.53987	.	0.154506	0.56097	D	0.000022	D	0.97031	0.9030	M	0.87547	2.89	0.80722	D	1	P;D;P;D	0.60160	0.944;0.987;0.944;0.972	P;P;P;B	0.61874	0.499;0.895;0.499;0.44	D	0.97544	1.0088	10	0.87932	D	0	-10.4711	14.2882	0.66258	0.0717:0.0:0.9283:0.0	.	309;348;310;337	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	T	348;337	ENSP00000405573:A348T;ENSP00000348877:A337T	ENSP00000348877:A337T	A	+	1	0	0	GPI	39576758	39576758	1.000000	0.71417	0.077000	0.20336	0.030000	0.12068	7.635000	0.83286	1.327000	0.45338	-0.145000	0.13849	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	0	0	1		2	2	2	0		0	0	84		84	81	1	2.060000	-3.132693	1	0.170000				20	18		519	511	0		1	1		0	0	84	0		9.999944e-01	1	0	54	0	845	0	20	519
GPI	2821	broad.mit.edu	37	19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000356487.5	+	13	1401	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000415930.3_Missense_Mutation_p.G398D	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	387					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)			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)					GGGACCAATGGCCAGCATGCT	0.562																																						ENST00000356487.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1159-1161)gGc>gAc		glucose-6-phosphate isomerase							66.0	65.0	65.0					19																	34887303		2203	4300	6503	SO:0001583	missense	2821	1	121412	31				g.chr19:34887303G>A	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.1160G>A	chr19.hg19:g.34887303G>A	ENSP00000348877:p.Gly387Asp	0					GPI_ENST00000415930.3_Missense_Mutation_p.G398D|GPI_ENST00000586425.1_Missense_Mutation_p.G387D	p.G387D	NM_000175.3	NP_000166.2	1	2	3	2.010022	P06744	G6PI_HUMAN		13	1401	+	Esophageal squamous(110;0.162)		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	1	1	hg19	c.1160G>A	CCDS12437.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.419485	0.96111	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.92858	-3.12;-3.12	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;D;D	0.83275	0.994;0.995;0.994;0.996	D	0.96163	0.9117	10	0.87932	D	0	-10.4995	19.622	0.95660	0.0:0.0:1.0:0.0	.	359;398;360;387	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	D	398;387	ENSP00000405573:G398D;ENSP00000348877:G387D	ENSP00000348877:G387D	G	+	2	0	0	GPI	39579143	39579143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.647000	0.89833	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				62	59		277	271	1		1	1		0	0	86	0		1	1	0	387	0	871	0	62	277
UBA2	10054	broad.mit.edu	37	19	34925772	34925772	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	ENST00000246548.4	+	5	428		c.e5-1		UBA2_ENST00000439527.2_Splice_Site	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2						cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTACTTCCAGCTGCCCGAAA	0.353																																						ENST00000246548.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				20						c.e5-1		ubiquitin-like modifier activating enzyme 2							36.0	33.0	34.0					19																	34925772		2202	4300	6502	SO:0001630	splice_region_variant	10054	0	0					g.chr19:34925772G>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.359-1G>T	chr19.hg19:g.34925772G>T		0					UBA2_ENST00000439527.2_Splice_Site		NM_005499.2	NP_005490.1	1	2	3	2.010022	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)	5	428	+	Esophageal squamous(110;0.162)		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	SNP	ENST00000246548.4	0	1	hg19		CCDS12439.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210801	0.79240	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1589	0.89702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	UBA2	39617612	39617612	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.095000	0.94175	2.570000	0.86706	0.655000	0.94253	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-18.421900	1	0.170000	NM_005499	Intron		17	17		29	28	1		1			0	0	15	0		9.999907e-01	0	0	0	0	0	0	17	29
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000246548.4	+	16	1692	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	UBA2_ENST00000439527.2_Missense_Mutation_p.D445G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458																																						ENST00000246548.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999572	0.990000	1.000000																										1	Substitution - Missense(1)	p.D541V(1)	large_intestine(1)	20						c.(1621-1623)gAc>gGc		ubiquitin-like modifier activating enzyme 2							75.0	73.0	74.0					19																	34957800		2203	4300	6503	SO:0001583	missense	10054	0	0					g.chr19:34957800A>G	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1622A>G	chr19.hg19:g.34957800A>G	ENSP00000246548:p.Asp541Gly	0					UBA2_ENST00000592791.1_Missense_Mutation_p.D67G|UBA2_ENST00000439527.2_Missense_Mutation_p.D445G	p.D541G	NM_005499.2	NP_005490.1	1	2	3	2.010022	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)	16	1692	+	Esophageal squamous(110;0.162)		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	1	1	hg19	c.1622A>G	CCDS12439.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543855	0.86022	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61040	0.14;1.3	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.80722	D	1	B	0.32653	0.379	B	0.31686	0.134	T	0.61950	-0.6957	10	0.66056	D	0.02	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	G	541;445	ENSP00000246548:D541G;ENSP00000437484:D445G	ENSP00000246548:D541G	D	+	2	0	0	UBA2	39649640	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_005499			28	27		179	177	1		1	1		0	0	49	0		1	1	0	15	0	173	0	28	179
WTIP	126374	broad.mit.edu	37	19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	391	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677																																						ENST00000590071.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999673	0.990000	1.000000																										0				4						c.(1171-1173)aGc>aTc		Wilms tumor 1 interacting protein							30.0	37.0	35.0					19																	34991053		2143	4242	6385	SO:0001583	missense	126374	0	0					g.chr19:34991053G>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1172G>T	chr19.hg19:g.34991053G>T	ENSP00000466953:p.Ser391Ile	0					WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	p.S391I	NM_001080436.1	NP_001073905.1	1	2	3	2.010022	A6NIX2	WTIP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)	8	1509	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)			Missense_Mutation	SNP	ENST00000590071.2	1	1	hg19	c.1172G>T	CCDS59375.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275618	0.59649	.	.	ENSG00000142279	ENST00000270288	D	0.87966	-2.32	4.35	3.04	0.35103	4.35	3.04	0.35103	Zinc finger, LIM-type (4);	0.180578	0.50627	D	0.000107	D	0.91068	0.7189	M	0.85373	2.75	0.35499	D	0.799668	D	0.61697	0.99	D	0.63877	0.919	D	0.91846	0.5487	10	0.72032	D	0.01	.	3.9293	0.09278	0.3703:0.0:0.6297:0.0	.	615	A6NIX2	WTIP_HUMAN	I	615	ENSP00000270288:S615I	ENSP00000270288:S615I	S	+	2	0	0	WTIP	39682893	39682893	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	3.870000	0.56070	2.101000	0.63845	0.305000	0.20034	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	1	0	1		2	2	2	0		0	0	29		29	26	1	2.060000	-20.000000	1	0.170000	XM_059037			24	24		141	139	1		1	1		0	0	29	0		9.999998e-01	9.999715e-01	0	23	0	80	0	24	141
ZNF792	126375	broad.mit.edu	37	19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			AGTGTGAACTCGCTGATGTTT	0.512																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1408-1410)cGa>cAa		zinc finger protein 792		C	GLN/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1409	1.6	0.1	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF792	NM_175872.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	470/633	35449350	1,13005	2203	4300	6503	SO:0001583	missense	126375	6	121410	40				g.chr19:35449350C>T	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.1409G>A	chr19.hg19:g.35449350C>T	ENSP00000385099:p.Arg470Gln	0					ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	p.R470Q	NM_175872.4	NP_787068.3	1	2	3	2.010022	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	4	1795	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	1	1	hg19	c.1409G>A	CCDS12440.2	1	.	.	.	.	.	.	.	.	.	.	c	18.09	3.545878	0.65198	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.61	1.57	0.23409	2.61	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42653	0.1212	M	0.69463	2.115	0.23076	N	0.998336	D	0.89917	1.0	D	0.66497	0.944	T	0.13255	-1.0516	9	0.87932	D	0	.	7.4294	0.27118	0.0:0.8604:0.0:0.1396	.	470	Q3KQV3	ZN792_HUMAN	Q	470;230	ENSP00000385099:R470Q	ENSP00000368487:R230Q	R	-	2	0	0	ZNF792	40141190	40141190	0.000000	0.05858	0.136000	0.22124	0.920000	0.55202	0.774000	0.26675	0.665000	0.31066	0.563000	0.77884	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-3.363199	1	0.170000	NM_175872			108	108		462	460	1		1	1		0	0	132	0		1	9.371781e-01	0	5	0	17	0	108	462
GRAMD1A	57655	broad.mit.edu	37	19	35501086	35501086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000317991.5	+	5	608	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	139	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACATCTTCCGCTGGGAGACC	0.657																																						ENST00000317991.5	1.000000	0.290000	5.600000e-01	3.600000e-01	0.440000	0.493378	0.440000	0.440000																										0				19						c.(415-417)cGc>cAc		GRAM domain containing 1A							76.0	79.0	78.0					19																	35501086		1926	4131	6057	SO:0001583	missense	57655	0	0					g.chr19:35501086G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.416G>A	chr19.hg19:g.35501086G>A	ENSP00000441032:p.Arg139His	0					GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H	p.R139H	NM_020895.3	NP_065946.2	1	2	3	2.010022	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	5	608	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	1	0	hg19	c.416G>A	CCDS42546.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.490486	0.96339	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87412	-2.25;-2.25	5.38	5.38	0.77491	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.992;0.974	D	0.94105	0.7365	10	0.59425	D	0.04	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	139;139;132;226	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	226;139;132	ENSP00000441032:R139H;ENSP00000439267:R132H	ENSP00000441032:R139H	R	+	2	0	0	GRAMD1A	40192926	40192926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.156309	1	0.170000	NM_020895			28	26		732	728	0		1	1		0	0	122	0		1	9.993007e-01	0	17	0	272	0	28	732
GRAMD1A	57655	broad.mit.edu	37	19	35504583	35504583	+	Silent	SNP	C	C	T	rs149214732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35504583C>T	ENST00000317991.5	+	9	1050	c.858C>T	c.(856-858)gaC>gaT	p.D286D	GRAMD1A_ENST00000504615.2_Silent_p.D52D|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.D373D|GRAMD1A_ENST00000411896.2_Silent_p.D279D	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	286						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGCAGCGACGCAGACCATG	0.642													C|||	17	0.00339457	0.0121	0.0	5008	,	,		16968	0.001		0.0	False		,,,				2504	0.0					ENST00000317991.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(856-858)gaC>gaT		GRAM domain containing 1A		C	,	47,4059		0,47,2006	31.0	35.0	34.0		837,858	-1.5	1.0	19	dbSNP_134	34	0,8388		0,0,4194	no	coding-synonymous,coding-synonymous	GRAMD1A	NM_001136199.1,NM_020895.3	,	0,47,6200	TT,TC,CC		0.0,1.1447,0.3762	,	279/714,286/725	35504583	47,12447	2053	4194	6247	SO:0001819	synonymous_variant	57655	96	120986	48				g.chr19:35504583C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.858C>T	chr19.hg19:g.35504583C>T		0					GRAMD1A_ENST00000504615.2_Silent_p.D52D|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.D373D|GRAMD1A_ENST00000411896.2_Silent_p.D279D	p.D286D	NM_020895.3	NP_065946.2	1	2	3	2.010022	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	9	1050	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	1	0	hg19	c.858C>T	CCDS42546.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	0	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-4.252788	1	0.170000	NM_020895			53	51		275	271	1		1	1		0	0	50	0		1	1	0	64	0	195	0	53	275
SCN1B	6324	broad.mit.edu	37	19	35524462	35524462	+	Silent	SNP	C	C	T	rs140949982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35524462C>T	ENST00000262631.5	+	3	404	c.267C>T	c.(265-267)cgC>cgT	p.R89R	SCN1B_ENST00000415950.3_Silent_p.R89R|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	89	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|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 repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|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)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGAGGGCCGCGTGGTGTGGA	0.602													C|||	14	0.00279553	0.0106	0.0	5008	,	,		19456	0.0		0.0	False		,,,				2504	0.0					ENST00000262631.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(265-267)cgC>cgT		sodium channel, voltage-gated, type I, beta subunit	Valproic Acid(DB00313)|Zonisamide(DB00909)	C	,	38,4368	41.6+/-74.8	0,38,2165	173.0	152.0	160.0		267,267	-9.1	0.5	19	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SCN1B	NM_001037.4,NM_199037.3	,	0,38,6465	TT,TC,CC		0.0,0.8625,0.2922	,	89/219,89/269	35524462	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	6324	85	121412	55				g.chr19:35524462C>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.267C>T	chr19.hg19:g.35524462C>T		0					SCN1B_ENST00000415950.3_Silent_p.R89R|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron|CTD-2527I21.9_ENST00000601692.1_RNA	p.R89R	NM_001037.4	NP_001028.1	1	2	3	2.010022	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	3	404	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		Q5TZZ4|Q6TN97	Silent	SNP	ENST00000262631.5	1	0	hg19	c.267C>T	CCDS12441.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1	1	0	1		23	2	2	0		0	1	154		154	151	1	2.060000	-4.719845	1	0.170000				189	187		908	892	1		1	1		0	0	154	0		1	9.999799e-01	0	22	0	52	0	189	908
HPN	3249	broad.mit.edu	37	19	35550662	35550662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000600675.1_3'UTR	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	82	SRCR.				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)			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)	CGCGCTCCAACGCCAGGGTAG	0.682																																						ENST00000262626.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998771	0.990000	1.000000																										0				19						c.(244-246)aaC>aaT		hepsin	Coagulation factor VIIa(DB00036)						17.0	14.0	15.0					19																	35550662		2195	4293	6488	SO:0001819	synonymous_variant	3249	0	0					g.chr19:35550662C>T		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.246C>T	chr19.hg19:g.35550662C>T		0					HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N34N	p.N82N	NM_182983.2	NP_892028.1	1	2	3	2.010022	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	5	1071	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		B2RDS4	Silent	SNP	ENST00000262626.2	0	1	hg19	c.246C>T	CCDS32993.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.784660	1	0.170000	NM_002151			10	10		39	38	1		1	1		0	0	10	0		9.976433e-01	9.731228e-01	0	3	0	25	0	10	39
LGI4	163175	broad.mit.edu	37	19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	494					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652																																						ENST00000310123.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1480-1482)Ctg>Atg		leucine-rich repeat LGI family, member 4							27.0	32.0	30.0					19																	35616231		2203	4300	6503	SO:0001583	missense	163175	0	0					g.chr19:35616231G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1480C>A	chr19.hg19:g.35616231G>T	ENSP00000312273:p.Leu494Met	0					LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	p.L494M	NM_139284.2	NP_644813.1	1	2	3	2.010022	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)	9	1999	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	1	1	hg19	c.1480C>A	CCDS12444.1	1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908672	0.52439	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.69175	-0.38	5.15	2.97	0.34412	5.15	2.97	0.34412	.	0.000000	0.51477	D	0.000092	T	0.75532	0.3862	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74509	-0.3642	10	0.87932	D	0	.	7.5644	0.27870	0.2695:0.0:0.7305:0.0	.	494	Q8N135	LGI4_HUMAN	M	494;495	ENSP00000312273:L494M	ENSP00000312273:L494M	L	-	1	2	2	LGI4	40308071	40308071	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.295000	0.43576	0.552000	0.29026	-0.350000	0.07774	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000				56	55		195	194	1		1	1		0	0	45	0		1	8.732186e-01	0	3	0	12	0	56	195
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572																																						ENST00000333651.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(574-576)ttC>ttA		high mobility group 20B							71.0	72.0	71.0					19																	3576607		2008	4159	6167	SO:0001583	missense	10362	0	0					g.chr19:3576607C>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.576C>A	chr19.hg19:g.3576607C>A	ENSP00000328269:p.Phe192Leu	0					MFSD12_ENST00000591878.1_5'Flank	p.F192L	NM_006339.2	NP_006330.2	1	2	3	2.010022	Q9P0W2	HM20B_HUMAN		7	651	+		Hepatocellular(1079;0.137)	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	1	1	hg19	c.576C>A	CCDS45919.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.504858|4.504858	0.85176|0.85176	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949|ENST00000402569	D;T|.	0.85556|.	-2.0;-0.74|.	4.87|4.87	1.54|1.54	0.23209|0.23209	4.87|4.87	1.54|1.54	0.23209|0.23209	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72510|0.72510	0.3469|0.3469	M|M	0.85197|0.85197	2.74|2.74	0.46749|0.46749	D|D	0.999183|0.999183	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71076|0.71076	-0.4697|-0.4697	10|6	0.40728|0.87932	T|D	0.16|0	-23.6179|-23.6179	7.2297|7.2297	0.26036|0.26036	0.0:0.6278:0.0:0.3722|0.0:0.6278:0.0:0.3722	.|.	192;192|.	A8K0D5;Q9P0W2|.	.;HM20B_HUMAN|.	L|Y	192;192;209|23	ENSP00000410924:F192L;ENSP00000328269:F192L|.	ENSP00000262949:F209L|ENSP00000385987:S23Y	F|S	+|+	3|2	2|0	2|0	HMG20B|HMG20B	3527607|3527607	3527607|3527607	0.277000|0.277000	0.24220|0.24220	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.222000|-0.222000	0.09190|0.09190	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	TTC|TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_006339			25	25		76	76	1		1	1		0	0	30	0		1	1	0	138	0	328	0	25	76
FXYD5	53827	broad.mit.edu	37	19	35657206	35657206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35657206C>T	ENST00000342879.3	+	7	1243	c.465C>T	c.(463-465)atC>atT	p.I155I	FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000541435.2_Silent_p.I155I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	155					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGTTCATCACAGGCATCA	0.557																																						ENST00000342879.3	1.000000	0.100000	2.700000e-01	1.400000e-01	0.190000	0.259342	0.190000	0.190000																										0				9						c.(463-465)atC>atT		FXYD domain containing ion transport regulator 5							145.0	148.0	147.0					19																	35657206		2203	4300	6503	SO:0001819	synonymous_variant	53827	0	0					g.chr19:35657206C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.465C>T	chr19.hg19:g.35657206C>T		0					FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I	p.I155I			1	2	3	2.010022	Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)	7	1243	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	0	1	hg19	c.465C>T	CCDS12447.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	0	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-2.807960	1	0.170000	NM_014164			14	14		896	880	0		1	1		0	0	183	0		9.997184e-01	9.999430e-01	0	14	0	1094	0	14	896
CD22	933	broad.mit.edu	37	19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000270311.6_Intron|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	729					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)			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)			AGCGGCCAGAGCTTCTTTGTG	0.552																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2185-2187)aGc>aTc		CD22 molecule							65.0	70.0	68.0					19																	35836007		2203	4300	6503	SO:0001583	missense	933	0	0					g.chr19:35836007G>T	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.2186G>T	chr19.hg19:g.35836007G>T	ENSP00000085219:p.Ser729Ile	0					MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I	p.S729I	NM_001771.3	NP_001762.2	1	2	3	2.010022	P20273	CD22_HUMAN	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)	11	2252	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	1	1	hg19	c.2186G>T	CCDS12457.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304738	0.60305	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.56444	0.95;0.54;0.46;0.94;1.01	5.32	3.03	0.35002	5.32	3.03	0.35002	.	0.239865	0.30085	N	0.010457	T	0.64864	0.2637	M	0.75447	2.3	0.30270	N	0.792324	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.963;0.999;0.992;0.992;0.999	T	0.60398	-0.7271	10	0.20519	T	0.43	.	6.9595	0.24590	0.0941:0.174:0.7319:0.0	.	557;729;641;729;552	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	I	729;641;552;729;557	ENSP00000085219:S729I;ENSP00000442279:S641I;ENSP00000339349:S552I;ENSP00000441237:S729I;ENSP00000403822:S557I	ENSP00000085219:S729I	S	+	2	0	0	CD22	40527847	40527847	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.117000	0.41939	1.245000	0.43885	0.563000	0.77884	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_001771			71	69		383	373	1		1	0		0	0	97	0		1	3.056969e-01	0	0	0	7	0	71	383
CD22	933	broad.mit.edu	37	19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	813					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)			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)			CGTCATTCCAGATTTTCCAGA	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997805	0.990000	1.000000																										0				54						c.(2437-2439)Gat>Tat		CD22 molecule							52.0	40.0	44.0					19																	35837493		2203	4300	6503	SO:0001583	missense	933	0	0					g.chr19:35837493G>T	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.2437G>T	chr19.hg19:g.35837493G>T	ENSP00000085219:p.Asp813Tyr	0					MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000544992.2_3'UTR	p.D813Y	NM_001771.3	NP_001762.2	1	2	3	2.010022	P20273	CD22_HUMAN	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)	14	2503	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	1	1	hg19	c.2437G>T	CCDS12457.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791871	0.50102	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.58358	0.79;0.4;0.34;0.66;0.87	4.58	-5.01	0.02991	4.58	-5.01	0.02991	.	1.852020	0.02603	N	0.101271	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	1	D;P;D;D	0.71674	0.981;0.558;0.991;0.998	P;B;P;D	0.64776	0.592;0.12;0.687;0.929	T	0.56019	-0.8048	10	0.59425	D	0.04	.	6.3034	0.21125	0.5514:0.1399:0.3087:0.0	.	641;725;813;636	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	813;725;636;628;641	ENSP00000085219:D813Y;ENSP00000442279:D725Y;ENSP00000339349:D636Y;ENSP00000270311:D628Y;ENSP00000403822:D641Y	ENSP00000085219:D813Y	D	+	1	0	0	CD22	40529333	40529333	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.350000	0.20079	-0.575000	0.05982	-0.384000	0.06662	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.878000	1	0.170000	NM_001771			11	11		54	51	1		1	0		0	0	11	0		9.984617e-01	8.031256e-01	0	0	0	17	0	11	54
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.Q184E(1)	lung(1)	10						c.(547-549)tcC>tcT		GIPC PDZ domain containing family, member 3							35.0	34.0	34.0					19																	3586949		2202	4299	6501	SO:0001819	synonymous_variant	126326	0	0					g.chr19:3586949C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.549C>T	chr19.hg19:g.3586949C>T		0		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.S183S	NM_133261.2	NP_573568.1	1	2	3	2.010022	Q8TF64	GIPC3_HUMAN		3	594	+			O75227	Silent	SNP	ENST00000322315.5	1	1	hg19	c.549C>T	CCDS32871.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_133261			34	34		138	132	1		1	0		0	0	33	0		1	4.966975e-01	0	0	0	8	0	34	138
TBXA2R	6915	broad.mit.edu	37	19	3595695	3595695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	ENST00000375190.4	-	3	1416	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A212T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	341					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTACTGCAGCCCGGAGCGCT	0.701																																						ENST00000375190.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				8						c.(1021-1023)ggG>ggA		thromboxane A2 receptor	Ridogrel(DB01207)						10.0	13.0	12.0					19																	3595695		2049	4161	6210	SO:0001819	synonymous_variant	6915	0	0					g.chr19:3595695C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.1023G>A	chr19.hg19:g.3595695C>T		0					TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A212T	p.G341G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	1	2	3	2.010022	P21731	TA2R_HUMAN		3	1416	-		Hepatocellular(1079;0.137)	O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	0	1	hg19	c.1023G>A	CCDS42467.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000				15	15		35	34	0		1	0		0	0	11	0		9.999449e-01	7.399462e-01	0	0	0	8	0	15	35
TBXA2R	6915	broad.mit.edu	37	19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A	rs376053867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	50					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697																																						ENST00000375190.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999078	0.990000	1.000000																										0				8						c.(148-150)gCg>gTg		thromboxane A2 receptor	Ridogrel(DB01207)						16.0	27.0	24.0					19																	3600484		2105	4175	6280	SO:0001583	missense	6915	0	0					g.chr19:3600484G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.149C>T	chr19.hg19:g.3600484G>A	ENSP00000364336:p.Ala50Val	0					TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V	p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	1	2	3	2.010022	P21731	TA2R_HUMAN		2	542	-		Hepatocellular(1079;0.137)	O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	1	1	hg19	c.149C>T	CCDS42467.1	1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382300	0.11524	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.56	2.4	0.29515	4.56	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.421699	0.23405	N	0.048533	T	0.16385	0.0394	L	0.35723	1.085	0.26961	N	0.965801	B;P	0.36086	0.031;0.536	B;B	0.28385	0.011;0.089	T	0.22591	-1.0212	10	0.02654	T	1	-16.8206	3.4159	0.07376	0.29:0.0:0.5265:0.1836	.	50;50	P21731;E2QRJ2	TA2R_HUMAN;.	V	50	ENSP00000393333:A50V;ENSP00000364336:A50V	ENSP00000364336:A50V	A	-	2	0	0	TBXA2R	3551484	3551484	0.822000	0.29219	0.371000	0.25978	0.224000	0.24922	1.946000	0.40283	0.441000	0.26529	-0.652000	0.03908	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-3.319745	1	0.170000				29	29		200	195	1		1	0		0	0	33	0		1	3.296693e-01	0	0	0	9	0	29	200
FFAR3	2865	broad.mit.edu	37	19	35850667	35850667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	ENST00000327809.4	+	2	1076	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	292					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|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 glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GAGCTGCTGAGGAGGTTGTGT	0.592																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(874-876)aGg>aAg		free fatty acid receptor 3							37.0	29.0	32.0					19																	35850667		2200	4274	6474	SO:0001583	missense	2865	0	0					g.chr19:35850667G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.875G>A	chr19.hg19:g.35850667G>A	ENSP00000328230:p.Arg292Lys	0					FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	p.R292K	NM_005304.3	NP_005295.1	1	2	3	2.010022	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)	2	1076	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	0	1	hg19	c.875G>A	CCDS12459.1	1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611728	0.14066	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.65	0.542	0.17174	4.65	0.542	0.17174	.	2.645630	0.02352	U	0.075988	T	0.21841	0.0526	N	0.24115	0.695	0.09310	N	1	B	0.19935	0.04	B	0.13407	0.009	T	0.17048	-1.0382	10	0.02654	T	1	-0.3835	6.7057	0.23250	0.106:0.429:0.465:0.0	.	292	O14843	FFAR3_HUMAN	K	292	ENSP00000328230:R292K	ENSP00000328230:R292K	R	+	2	0	0	FFAR3	40542507	40542507	0.023000	0.18921	0.087000	0.20705	0.020000	0.10135	0.467000	0.22035	0.474000	0.27392	-0.391000	0.06502	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	0	0	1		2	2	2	0		0	0	52		52	89	1	2.060000	-20.000000	1	0.170000	NM_005304			50	28		203	106	0		1			0	0	52	0		1	0	0	0	0	0	0	50	203
SBSN	374897	broad.mit.edu	37	19	36018273	36018273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36018273G>A	ENST00000452271.2	-	1	939	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	304	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCTGCCCCGCAGCATGGTG	0.652																																						ENST00000452271.2	1.000000	0.450000	1	6.700000e-01	0.960000	0.870231	0.960000	1.000000																										0				14						c.(910-912)gCg>gTg		suprabasin							29.0	36.0	34.0					19																	36018273		692	1591	2283	SO:0001583	missense	374897	0	0					g.chr19:36018273G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.911C>T	chr19.hg19:g.36018273G>A	ENSP00000430242:p.Ala304Val	0					SBSN_ENST00000518157.1_Intron	p.A304V	NM_001166034.1	NP_001159506.1	1	2	3	2.010022	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	1	939	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	0	1	hg19	c.911C>T	CCDS54253.1	1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195340	0.09599	.	.	ENSG00000189001	ENST00000452271	T	0.40756	1.02	4.47	-8.94	0.00768	4.47	-8.94	0.00768	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.22243	-1.0222	9	0.21540	T	0.41	.	10.4751	0.44659	0.2641:0.1889:0.547:0.0	.	304	E9PBV3	.	V	304	ENSP00000430242:A304V	ENSP00000430242:A304V	A	-	2	0	0	SBSN	40710113	40710113	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.346000	0.00503	-1.618000	0.01568	-0.672000	0.03802	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	0	0	0		2	2	2	0		0	0	14		14	0	1	2.060000	-5.318226	1	0.170000	NM_198538			8	0		96	0	0			0		0	0	14	0		0	1.787390e-01	0	0	0	9	0	8	96
GAPDHS	26330	broad.mit.edu	37	19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	107					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGAATGATCCATTCATTGAC	0.582																																						ENST00000222286.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				11						c.(319-321)cCa>cAa		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic							89.0	63.0	72.0					19																	36029283		2203	4300	6503	SO:0001583	missense	26330	0	0					g.chr19:36029283C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.320C>A	chr19.hg19:g.36029283C>A	ENSP00000222286:p.Pro107Gln	0					AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	p.P107Q	NM_014364.4	NP_055179.1	1	2	3	2.010022	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	3	436	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	1	1	hg19	c.320C>A	CCDS12465.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960297	0.92791	.	.	ENSG00000105679	ENST00000222286	T	0.30182	1.54	5.3	5.3	0.74995	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80079	-0.1532	10	0.87932	D	0	-13.3742	16.4475	0.83942	0.0:1.0:0.0:0.0	.	107	O14556	G3PT_HUMAN	Q	107	ENSP00000222286:P107Q	ENSP00000222286:P107Q	P	+	2	0	0	GAPDHS	40721123	40721123	1.000000	0.71417	0.890000	0.34922	0.957000	0.61999	7.745000	0.85046	2.450000	0.82876	0.655000	0.94253	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-2.749484	1	0.170000	NM_014364			24	23		120	116	1		1			0	0	37	0		9.999998e-01	0	0	0	0	0	0	24	120
GAPDHS	26330	broad.mit.edu	37	19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	172					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCACAGGCGTGTACCTCTC	0.632																																						ENST00000222286.4	1.000000	0.260000	7.900000e-01	3.800000e-01	0.540000	0.583088	0.540000	0.500000																										0				11						c.(514-516)Gtg>Atg		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic							52.0	50.0	51.0					19																	36033285		2203	4300	6503	SO:0001583	missense	26330	0	0					g.chr19:36033285G>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.514G>A	chr19.hg19:g.36033285G>A	ENSP00000222286:p.Val172Met	0					AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA	p.V172M	NM_014364.4	NP_055179.1	1	2	3	2.010022	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	5	630	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	1	1	hg19	c.514G>A	CCDS12465.1	0	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909016	0.72868	.	.	ENSG00000105679	ENST00000222286	T	0.48522	0.81	5.24	3.08	0.35506	5.24	3.08	0.35506	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.144521	0.45867	D	0.000336	T	0.65450	0.2692	M	0.86343	2.81	0.58432	D	0.999999	D	0.61697	0.99	P	0.60609	0.877	T	0.69877	-0.5026	10	0.72032	D	0.01	-17.6641	8.7846	0.34811	0.1862:0.0:0.8138:0.0	.	172	O14556	G3PT_HUMAN	M	172	ENSP00000222286:V172M	ENSP00000222286:V172M	V	+	1	0	0	GAPDHS	40725125	40725125	1.000000	0.71417	0.839000	0.33178	0.907000	0.53573	4.529000	0.60588	1.355000	0.45865	-0.448000	0.05591	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-11.230190	1	0.170000	NM_014364			9	9		201	198	0		1	0		0	0	56	0		9.941444e-01	2.436000e-03	0	0	0	2	0	9	201
TMEM147	10430	broad.mit.edu	37	19	36037431	36037431	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000222284.5	+	3	296	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Silent_p.L2L|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_Silent_p.L51L	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537																																						ENST00000222284.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(151-153)Ctg>Ttg		transmembrane protein 147							164.0	141.0	148.0					19																	36037431		2203	4300	6503	SO:0001819	synonymous_variant	10430	0	0					g.chr19:36037431C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.151C>T	chr19.hg19:g.36037431C>T		0					AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Silent_p.L2L|TMEM147_ENST00000392205.1_Silent_p.L51L|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA	p.L51L	NM_032635.3	NP_116024.1	1	2	3	2.010022	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	3	296	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		A8MWW0|O75790	Silent	SNP	ENST00000222284.5	1	1	hg19	c.151C>T	CCDS12466.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-19.991130	1	0.170000	NM_032635			41	41		211	207	0		1	1		0	0	54	0		1	1	0	178	0	493	0	41	211
ATP4A	495	broad.mit.edu	37	19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	751					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTGGCAGCATCTGAGCCAGCG	0.602																																						ENST00000262623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2251-2253)Gat>Aat		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)						96.0	80.0	86.0					19																	36046143		2203	4300	6503	SO:0001583	missense	495	0	0					g.chr19:36046143C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2251G>A	chr19.hg19:g.36046143C>T	ENSP00000262623:p.Asp751Asn	0						p.D751N	NM_000704.2	NP_000695.2	1	2	3	2.010022	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	15	2279	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		O00738	Missense_Mutation	SNP	ENST00000262623.3	1	1	hg19	c.2251G>A	CCDS12467.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418517	0.83559	.	.	ENSG00000105675	ENST00000262623	D	0.98550	-4.99	4.66	4.66	0.58398	4.66	4.66	0.58398	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99357	0.9774	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98344	1.0540	10	0.87932	D	0	.	15.0789	0.72099	0.0:1.0:0.0:0.0	.	751	P20648	ATP4A_HUMAN	N	751	ENSP00000262623:D751N	ENSP00000262623:D751N	D	-	1	0	0	ATP4A	40737983	40737983	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	7.651000	0.83577	2.425000	0.82216	0.462000	0.41574	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000704			78	78		255	250	1		1			0	0	61	0		1	0	0	0	0	0	0	78	255
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGACCACGCAGTTCTTAC	0.617																																						ENST00000262623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C367C(1)	lung(1)	53						c.(1099-1101)tgC>tgT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)						185.0	171.0	175.0					19																	36050049		2203	4300	6503	SO:0001819	synonymous_variant	495	1	121412	34				g.chr19:36050049G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1101C>T	chr19.hg19:g.36050049G>A		0						p.C367C	NM_000704.2	NP_000695.2	1	2	3	2.010022	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	8	1129	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		O00738	Silent	SNP	ENST00000262623.3	1	1	hg19	c.1101C>T	CCDS12467.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1		15	2	2	1		1	1	244		244	243	1	2.060000	-20.000000	1	0.170000	NM_000704			171	167		852	843	1		1			1	0	244	0		1	0	0	0	0	0	0	171	852
ATP4A	495	broad.mit.edu	37	19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAAGACCATGGCCCGCAGGAA	0.587																																						ENST00000262623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(991-993)gCc>gAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)						82.0	67.0	72.0					19																	36050771		2203	4300	6503	SO:0001583	missense	495	0	0					g.chr19:36050771G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.992C>A	chr19.hg19:g.36050771G>T	ENSP00000262623:p.Ala331Asp	0						p.A331D	NM_000704.2	NP_000695.2	1	2	3	2.010022	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	7	1020	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		O00738	Missense_Mutation	SNP	ENST00000262623.3	1	1	hg19	c.992C>A	CCDS12467.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475950	0.84640	.	.	ENSG00000105675	ENST00000262623	D	0.91180	-2.8	3.83	3.83	0.44106	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000006	D	0.94631	0.8269	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	D	0.95198	0.8314	10	0.87932	D	0	.	13.5911	0.61961	0.0:0.0:1.0:0.0	.	331	P20648	ATP4A_HUMAN	D	331	ENSP00000262623:A331D	ENSP00000262623:A331D	A	-	2	0	0	ATP4A	40742611	40742611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.559000	0.98135	2.146000	0.66826	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_000704			53	52		224	219	1		1			0	0	50	0		1	0	0	0	0	0	0	53	224
ATP4A	495	broad.mit.edu	37	19	36053540	36053540	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.217G>A	c.(217-219)Ggc>Agc	p.G73S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	73					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCAGAGAGGCCCTGGGACAGA	0.672																																						ENST00000262623.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998245	0.990000	1.000000																										0				53						c.(217-219)Ggc>Agc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)						9.0	10.0	10.0					19																	36053540		2180	4270	6450	SO:0001630	splice_region_variant	495	0	0					g.chr19:36053540C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.217-1G>A	chr19.hg19:g.36053540C>T		0						p.G73S	NM_000704.2	NP_000695.2	1	2	3	2.010022	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	4	245	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		O00738	Splice_Site	SNP	ENST00000262623.3	0	1	hg19	c.217G>A	CCDS12467.1	1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982953	0.74474	.	.	ENSG00000105675	ENST00000262623	D	0.99660	-6.32	3.45	3.45	0.39498	3.45	3.45	0.39498	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.50627	D	0.000111	D	0.99711	0.9889	H	0.96430	3.82	0.51233	D	0.999913	D	0.89917	1.0	D	0.97110	1.0	D	0.97331	0.9950	10	0.87932	D	0	.	12.4861	0.55874	0.0:1.0:0.0:0.0	.	73	P20648	ATP4A_HUMAN	S	73	ENSP00000262623:G73S	ENSP00000262623:G73S	G	-	1	0	0	ATP4A	40745380	40745380	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.266000	0.78452	1.762000	0.52044	0.465000	0.42564	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.996980	1	0.170000	NM_000704	Missense_Mutation		12	11		60	60	0		1			0	0	14	0		9.993403e-01	0	0	0	0	0	0	12	60
ATP4A	495	broad.mit.edu	37	19	36054427	36054427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	5					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCTCATAGTTCTCCTGGGAAT	0.637																																						ENST00000262623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(13-15)gaG>gaA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)						96.0	102.0	100.0					19																	36054427		2203	4300	6503	SO:0001819	synonymous_variant	495	0	0					g.chr19:36054427C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.15G>A	chr19.hg19:g.36054427C>T		0						p.E5E	NM_000704.2	NP_000695.2	1	2	3	2.010022	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	2	43	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		O00738	Silent	SNP	ENST00000262623.3	1	1	hg19	c.15G>A	CCDS12467.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	0		2	2	2	0		0	0	162		162	161	1	2.060000	-20.000000	1	0.170000	NM_000704			187	185		733	710	1		1			0	0	162	0		1	0	0	0	0	0	0	187	733
HAUS5	23354	broad.mit.edu	37	19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	117					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGGCACGTCAGCACACTCAAG	0.647																																						ENST00000203166.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999697	0.990000	1.000000																										0				16						c.(349-351)caG>caT		HAUS augmin-like complex, subunit 5							30.0	35.0	33.0					19																	36106154		2157	4259	6416	SO:0001583	missense	23354	0	0					g.chr19:36106154G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.351G>T	chr19.hg19:g.36106154G>T	ENSP00000439056:p.Gln117His	0					HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H|AC002115.9_ENST00000589603.1_lincRNA	p.Q117H	NM_015302.1	NP_056117.1	1	2	3	2.010022	O94927	HAUS5_HUMAN		6	376	+			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	1	1	hg19	c.351G>T	CCDS42550.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478730	0.26511	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33216	1.42;1.42	5.52	2.13	0.27403	5.52	2.13	0.27403	.	0.377447	0.27473	N	0.019217	T	0.28797	0.0714	M	0.69823	2.125	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.31024	-0.9958	10	0.72032	D	0.01	-5.4362	5.3833	0.16204	0.1877:0.1629:0.6493:0.0	.	117	O94927	HAUS5_HUMAN	H	117	ENSP00000439056:Q117H;ENSP00000444373:Q117H	ENSP00000439056:Q117H	Q	+	3	2	2	HAUS5	40797994	40797994	0.950000	0.32346	0.066000	0.19879	0.002000	0.02628	1.781000	0.38644	0.250000	0.21479	-0.145000	0.13849	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				24	24		140	137	1		1	1		0	0	40	0		9.999998e-01	9.684264e-01	0	12	0	24	0	24	140
HAUS5	23354	broad.mit.edu	37	19	36109545	36109545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	320					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCTTGACCCAGCGCCTCCAGG	0.647																																						ENST00000203166.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(958-960)caG>caA		HAUS augmin-like complex, subunit 5							54.0	60.0	58.0					19																	36109545		1995	4148	6143	SO:0001819	synonymous_variant	23354	0	0					g.chr19:36109545G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.960G>A	chr19.hg19:g.36109545G>A		0					HAUS5_ENST00000379045.2_3'UTR	p.Q320Q	NM_015302.1	NP_056117.1	1	2	3	2.010022	O94927	HAUS5_HUMAN		12	985	+			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	1	1	hg19	c.960G>A	CCDS42550.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000				69	69		326	322	1		1	1		0	0	77	0		1	9.936184e-01	0	12	0	27	0	69	326
HAUS5	23354	broad.mit.edu	37	19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	340					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGCAGGCAGGTGCTGATAC	0.617																																						ENST00000203166.5	1.000000	0.830000	1	9.900000e-01	0.990000	0.985841	0.990000	1.000000																										0				16						c.(1018-1020)caG>caT		HAUS augmin-like complex, subunit 5							48.0	47.0	47.0					19																	36109792		2068	4215	6283	SO:0001583	missense	23354	0	0					g.chr19:36109792G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1020G>T	chr19.hg19:g.36109792G>T	ENSP00000439056:p.Gln340His	0					HAUS5_ENST00000379045.2_3'UTR	p.Q340H	NM_015302.1	NP_056117.1	1	2	3	2.010022	O94927	HAUS5_HUMAN		13	1045	+			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	1	1	hg19	c.1020G>T	CCDS42550.1	1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166373	0.21621	.	.	ENSG00000249115	ENST00000203166	T	0.30981	1.51	5.6	0.544	0.17185	5.6	0.544	0.17185	.	0.532571	0.19741	N	0.107130	T	0.34774	0.0909	L	0.55481	1.735	0.37242	D	0.906142	P	0.44195	0.828	P	0.50617	0.646	T	0.27191	-1.0081	10	0.41790	T	0.15	-18.8135	8.1581	0.31183	0.3865:0.0:0.6135:0.0	.	340	O94927	HAUS5_HUMAN	H	340	ENSP00000439056:Q340H	ENSP00000439056:Q340H	Q	+	3	2	2	HAUS5	40801632	40801632	0.906000	0.30813	0.475000	0.27278	0.012000	0.07955	0.237000	0.17985	0.325000	0.23359	-0.217000	0.12591	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.318794	1	0.170000				33	32		302	294	1		1	1		0	0	48	0		1	8.868334e-01	0	4	0	33	0	33	302
HAUS5	23354	broad.mit.edu	37	19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T	rs372249287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	620					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GTGGCGGCTGCGCTGGGTTCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		13892	0.001		0.0	False		,,,				2504	0.0					ENST00000203166.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1858-1860)Cgc>Tgc		HAUS augmin-like complex, subunit 5		C	CYS/ARG	1,3711		0,1,1855	26.0	29.0	28.0		1858	5.1	1.0	19		28	0,8152		0,0,4076	no	missense	HAUS5	NM_015302.1	180	0,1,5931	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging	620/634	36113851	1,11863	1856	4076	5932	SO:0001583	missense	23354	10	120610	41				g.chr19:36113851C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1858C>T	chr19.hg19:g.36113851C>T	ENSP00000439056:p.Arg620Cys	0					HAUS5_ENST00000379045.2_3'UTR	p.R620C	NM_015302.1	NP_056117.1	1	2	3	2.010022	O94927	HAUS5_HUMAN		19	1883	+			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	1	1	hg19	c.1858C>T	CCDS42550.1	1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027513	0.54683	2.69E-4	0.0	ENSG00000249115	ENST00000203166	T	0.38560	1.13	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.058422	0.64402	D	0.000005	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.64732	-0.6338	10	0.87932	D	0	-17.7701	13.8634	0.63574	0.0:1.0:0.0:0.0	.	620	O94927	HAUS5_HUMAN	C	620	ENSP00000439056:R620C	ENSP00000439056:R620C	R	+	1	0	0	HAUS5	40805691	40805691	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	2.329000	0.43876	2.659000	0.90383	0.596000	0.82720	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1		2	2	2	0		0	0	68		68	65	1	2.060000	-3.316288	1	0.170000				82	81		366	353	1		1	1		0	0	68	0		1	9.157565e-01	0	7	0	13	0	82	366
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)			GGACCGGAATCTGGACGTGGT	0.617																																						ENST00000262633.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				21						c.(1390-1392)Ctg>Atg		RNA binding motif protein 42							110.0	109.0	109.0					19																	36128403		2203	4300	6503	SO:0001583	missense	79171	0	0					g.chr19:36128403C>A	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.1390C>A	chr19.hg19:g.36128403C>A	ENSP00000262633:p.Leu464Met	0					RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M	p.L464M	NM_024321.3	NP_077297.2	1	2	3	2.010022	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)	10	1495	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	1	1	hg19	c.1390C>A	CCDS12468.1	1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	2	RBM42	40820243	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_024321			46	46		263	260	1		1	1		0	0	76	0		1	1	0	140	0	329	0	46	263
ETV2	2116	broad.mit.edu	37	19	36134268	36134268	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	ENST00000403402.1	+	4	634	c.328G>T	c.(328-330)Ggc>Tgc	p.G110C	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379026.2_Missense_Mutation_p.G138C			O00321	ETV2_HUMAN	ets variant 2	110					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	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)			GCAGACCCTGGGCCCCGCCCC	0.741																																						ENST00000403402.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998520	0.990000	1.000000																										0				2						c.(328-330)Ggc>Tgc		ets variant 2							5.0	6.0	5.0					19																	36134268		2076	4184	6260	SO:0001583	missense	2116	0	0					g.chr19:36134268G>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.328G>T	chr19.hg19:g.36134268G>T	ENSP00000385369:p.Gly110Cys	0					ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.G138C	p.G110C			1	2	3	2.010022	O00321	ETV2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	4	634	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	0	1	hg19	c.328G>T	CCDS32995.2	1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.698179	0.68386	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.44083	0.93;0.93;0.93	3.87	2.84	0.33178	3.87	2.84	0.33178	.	3.921250	0.01179	N	0.007058	T	0.54062	0.1835	L	0.29908	0.895	0.25390	N	0.988537	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.80764	0.829;0.994;0.829	T	0.41945	-0.9480	10	0.87932	D	0	.	7.0931	0.25295	0.1211:0.0:0.8789:0.0	.	109;138;110	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	C	138;110;110;110	ENSP00000368312:G138C;ENSP00000384524:G110C;ENSP00000385369:G110C	ENSP00000368307:G110C	G	+	1	0	0	ETV2	40826108	40826108	0.168000	0.22989	0.515000	0.27774	0.052000	0.14988	0.816000	0.27267	1.221000	0.43506	0.556000	0.70494	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.803130	1	0.170000	XM_209182			10	10		41	41	0		1			0	0	8	0		9.978505e-01	0	0	0	0	0	0	10	41
UPK1A	11045	broad.mit.edu	37	19	36166803	36166803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	ENST00000222275.2	+	5	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	177					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	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)			GCCTTCCGGGCGGCCACTCCG	0.642																																						ENST00000222275.2	1.000000	0.720000	1	8.900000e-01	0.990000	0.961929	0.990000	1.000000																										0				9						c.(529-531)gCg>gTg		uroplakin 1A							66.0	60.0	62.0					19																	36166803		2203	4300	6503	SO:0001583	missense	11045	1	121412	28				g.chr19:36166803C>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.530C>T	chr19.hg19:g.36166803C>T	ENSP00000222275:p.Ala177Val	0					UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	p.A177V	NM_007000.2	NP_008931.1	1	2	3	2.010022	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	5	530	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	0	1	hg19	c.530C>T	CCDS12470.1	1	.	.	.	.	.	.	.	.	.	.	C	6.033	0.374512	0.11409	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79247	-1.25;-1.25	4.98	-0.367	0.12541	4.98	-0.367	0.12541	Tetraspanin, EC2 domain (1);	0.584934	0.15940	N	0.237240	T	0.53029	0.1771	N	0.08118	0	0.09310	N	1	P;P	0.38280	0.625;0.618	B;B	0.28465	0.088;0.09	T	0.36383	-0.9750	10	0.23302	T	0.38	-6.5041	15.524	0.75887	0.4122:0.5877:0.0:0.0	.	177;177	O00322-2;O00322	.;UPK1A_HUMAN	V	177	ENSP00000222275:A177V;ENSP00000368298:A177V	ENSP00000222275:A177V	A	+	2	0	0	UPK1A	40858643	40858643	0.000000	0.05858	0.077000	0.20336	0.294000	0.27393	-0.378000	0.07446	-0.101000	0.12219	-1.624000	0.00789	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	0	0	1		17	2	2	1		1	1	51		51	51	1	2.060000	-3.221884	1	0.170000				25	25		251	245	0		1	0		1	0	51	0		9.133258e-01	9.050824e-03	0	0	0	2	0	25	251
UPK1A	11045	broad.mit.edu	37	19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	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)			CACGCCATCGACAGCTACACG	0.642																																						ENST00000222275.2	1.000000	0.560000	1	7.500000e-01	0.990000	0.906334	0.990000	1.000000																										0				9						c.(679-681)gAc>gGc		uroplakin 1A							76.0	65.0	68.0					19																	36168745		2203	4300	6503	SO:0001583	missense	11045	1	121402	21				g.chr19:36168745A>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.680A>G	chr19.hg19:g.36168745A>G	ENSP00000222275:p.Asp227Gly	0					UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	p.D227G	NM_007000.2	NP_008931.1	1	2	3	2.010022	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	6	680	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	0	1	hg19	c.680A>G	CCDS12470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140171|3.140171	0.56936|0.56936	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.79247|0.06768	-1.25|3.26	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	Tetraspanin, EC2 domain (1);|.	.|0.948870	.|0.08490	.|U	.|0.938098	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.34787|0.34787	D|D	0.735353|0.735353	B|B	0.22851|0.31817	0.076|0.341	B|B	0.28011|0.30782	0.085|0.12	T|T	0.21008|0.21008	-1.0258|-1.0258	9|10	0.42905|0.87932	T|D	0.14|0	-6.5984|-6.5984	11.853|11.853	0.52422|0.52422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|260	O00322|O00322-2	UPK1A_HUMAN|.	G|A	227|260	ENSP00000222275:D227G|ENSP00000368298:T260A	ENSP00000222275:D227G|ENSP00000368298:T260A	D|T	+|+	2|1	0|0	0|0	UPK1A|UPK1A	40860585|40860585	40860585|40860585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.958000|5.958000	0.70330|0.70330	2.054000|2.054000	0.61138|0.61138	0.379000|0.379000	0.24179|0.24179	GAC|ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-6.888644	1	0.170000				14	14		159	156	0		1	0		0	0	21	0		9.997674e-01	2.187982e-02	0	1	0	2	0	14	159
ZBTB32	27033	broad.mit.edu	37	19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000607650.1_RNA|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	147					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)			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)			GGACCCTGGAGAGAAGCAGAA	0.547																																						ENST00000392197.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(439-441)Gag>Tag		zinc finger and BTB domain containing 32							41.0	44.0	43.0					19																	36205967		2203	4300	6503	SO:0001587	stop_gained	27033	0	0					g.chr19:36205967G>T	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.439G>T	chr19.hg19:g.36205967G>T	ENSP00000376035:p.Glu147*	0					KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank	p.E147*			1	2	3	2.010022	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	3	757	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		Q8WVP2	Nonsense_Mutation	SNP	ENST00000392197.2	0	1	hg19	c.439G>T	CCDS12471.1	1	.	.	.	.	.	.	.	.	.	.	G	7.091	0.572239	0.13623	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	5.2	0.103	0.14526	5.2	0.103	0.14526	.	0.463445	0.18365	N	0.143458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4779	7.9708	0.30126	0.3984:0.0:0.6016:0.0	.	.	.	.	X	147	.	ENSP00000262630:E147X	E	+	1	0	0	ZBTB32	40897807	40897807	0.091000	0.21658	0.010000	0.14722	0.360000	0.29518	0.189000	0.17037	0.218000	0.20820	0.655000	0.94253	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_014383			41	41		217	213	1		1	1		0	0	54	0		1	3.784577e-01	0	2	0	6	0	41	217
PROSER3	148137	broad.mit.edu	37	19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y			Q2NL68	PRSR3_HUMAN		137										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)			CAGTCTGACTCTCCAGACCCC	0.582																																						ENST00000544099.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(409-411)tCt>tAt									36.0	40.0	38.0					19																	36253018		1962	4171	6133	SO:0001583	missense	0	0	0					g.chr19:36253018C>A																												ENST00000544099.1:c.410C>A	chr19.hg19:g.36253018C>A	ENSP00000467267:p.Ser137Tyr	0					C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y	p.S137Y			1	2	3	2.010022	Q2NL68	PRSR3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	4	473	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	1	1	hg19	c.410C>A		1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739653	0.69304	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.59	3.55	0.40652	4.59	3.55	0.40652	.	0.191988	0.25885	N	0.027669	T	0.61173	0.2326	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.80764	0.874;0.994;0.994	T	0.50709	-0.8796	10	0.62326	D	0.03	-2.4722	8.6048	0.33767	0.0:0.8937:0.0:0.1063	.	137;137;137	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	Y	52;137;137;52;52	ENSP00000394231:S52Y;ENSP00000380116:S137Y;ENSP00000301165:S137Y;ENSP00000440357:S52Y	ENSP00000301165:S137Y	S	+	2	0	0	C19orf55	40944858	40944858	0.000000	0.05858	0.004000	0.12327	0.583000	0.36354	0.394000	0.20834	1.266000	0.44231	0.650000	0.86243	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2	0	0	1		16	3	2	1		1	1	41		41	41	1	2.060000	-20.000000	1	0.170000				38	38		162	156	0		1	1		1	0	41	0		9.994289e-01	5.173940e-01	0	6	0	8	0	38	162
ARHGAP33	115703	broad.mit.edu	37	19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000007510.4	+	21	2851	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	903					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGGCCCTGGCCCTGGCTGA	0.692																																						ENST00000007510.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2707-2709)Gcc>Acc		Rho GTPase activating protein 33							21.0	26.0	24.0					19																	36278174		2195	4283	6478	SO:0001583	missense	115703	0	0					g.chr19:36278174G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2707G>A	chr19.hg19:g.36278174G>A	ENSP00000007510:p.Ala903Thr	0					AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T	p.A903T			1	2	3	2.010022	O14559	RHG33_HUMAN		21	2851	+			O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	1	1	hg19	c.2707G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316283	0.60524	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27557	1.78;1.66;2.01	4.91	3.84	0.44239	4.91	3.84	0.44239	.	0.314786	0.24016	N	0.042336	T	0.31482	0.0798	L	0.58101	1.795	0.32584	N	0.528092	B;B;B	0.18461	0.028;0.021;0.021	B;B;B	0.18561	0.016;0.022;0.015	T	0.40459	-0.9562	10	0.59425	D	0.04	.	12.694	0.56992	0.0:0.3178:0.6822:0.0	.	903;767;742	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	903;742;767	ENSP00000007510:A903T;ENSP00000320038:A742T;ENSP00000368227:A767T	ENSP00000007510:A903T	A	+	1	0	0	ARHGAP33	40970014	40970014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.237000	0.58681	0.996000	0.38943	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_052948			68	67		267	263	0		1	0		0	0	70	0		1	4.240339e-02	0	0	0	2	0	68	267
NPHS1	4868	broad.mit.edu	37	19	36332624	36332624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	936	Ig-like C2-type 8.				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)			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)			TACTGATGCTGACAAGTTGAA	0.572																																						ENST00000378910.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999626	0.990000	1.000000																										0				74						c.(2806-2808)gtC>gtT		nephrosis 1, congenital, Finnish type (nephrin)							158.0	119.0	133.0					19																	36332624		2203	4300	6503	SO:0001819	synonymous_variant	4868	0	0					g.chr19:36332624G>A		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.2808C>T	chr19.hg19:g.36332624G>A		0					NPHS1_ENST00000353632.6_Silent_p.V936V	p.V936V	NM_004646.3	NP_004637.1	1	2	3	2.010022	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	20	2807	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	1	1	hg19	c.2808C>T	CCDS32996.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-3.323560	1	0.170000				28	27		177	175	1		1	0		0	0	60	0		1	2.020624e-02	0	0	0	2	0	28	177
NPHS1	4868	broad.mit.edu	37	19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	419	Ig-like C2-type 4.				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)			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)			TCACTGAAGGCCTCACATGTG	0.592																																						ENST00000378910.5	1.000000	0.410000	8.300000e-01	5.100000e-01	0.640000	0.672436	0.640000	0.620000																										0				74						c.(1255-1257)Gcc>Acc		nephrosis 1, congenital, Finnish type (nephrin)							114.0	103.0	107.0					19																	36339215		2203	4300	6503	SO:0001583	missense	4868	0	0					g.chr19:36339215C>T		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.1255G>A	chr19.hg19:g.36339215C>T	ENSP00000368190:p.Ala419Thr	0					NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	p.A419T	NM_004646.3	NP_004637.1	1	2	3	2.010022	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	10	1254	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	1	1	hg19	c.1255G>A	CCDS32996.1	0	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067564	0.55539	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.91351	-2.83;-2.83	5.43	4.38	0.52667	5.43	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183078	0.46758	D	0.000271	D	0.95198	0.8443	M	0.82517	2.595	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95525	0.8598	10	0.72032	D	0.01	-25.7883	13.8765	0.63655	0.0:0.8458:0.1542:0.0	.	419	O60500	NPHN_HUMAN	T	419	ENSP00000368190:A419T;ENSP00000343634:A419T	ENSP00000343634:A419T	A	-	1	0	0	NPHS1	41031055	41031055	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.341000	0.65964	1.259000	0.44117	-0.282000	0.10007	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-5.670379	1	0.170000				22	22		395	386	0		1			0	0	70	0		9.999985e-01	0	0	0	0	0	0	22	395
NPHS1	4868	broad.mit.edu	37	19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	309	Ig-like C2-type 3.				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)			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)			CTCCATGGTCTTCTGGCCTCA	0.657																																						ENST00000378910.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(925-927)gaA>gaC		nephrosis 1, congenital, Finnish type (nephrin)							65.0	58.0	60.0					19																	36339963		2203	4300	6503	SO:0001583	missense	4868	0	0					g.chr19:36339963T>G		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.927A>C	chr19.hg19:g.36339963T>G	ENSP00000368190:p.Glu309Asp	0					NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D|NPHS1_ENST00000591817.1_5'Flank	p.E309D	NM_004646.3	NP_004637.1	1	2	3	2.010022	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	8	926	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	1	1	hg19	c.927A>C	CCDS32996.1	1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787798	0.49997	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78003	-1.14;-1.14	5.32	3.09	0.35607	5.32	3.09	0.35607	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117636	0.56097	D	0.000033	T	0.80539	0.4642	L	0.57536	1.79	0.35805	D	0.823421	D	0.71674	0.998	D	0.63033	0.91	T	0.80004	-0.1564	10	0.42905	T	0.14	-17.3468	5.0005	0.14262	0.0:0.4743:0.0:0.5257	.	309	O60500	NPHN_HUMAN	D	309	ENSP00000368190:E309D;ENSP00000343634:E309D	ENSP00000343634:E309D	E	-	3	2	2	NPHS1	41031803	41031803	0.987000	0.35691	1.000000	0.80357	0.443000	0.32047	0.012000	0.13287	0.368000	0.24481	0.378000	0.23410	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				72	70		408	407	1		1	0		0	0	86	0		1	0	0	0	0	1	0	72	408
NPHS1	4868	broad.mit.edu	37	19	36340237	36340237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36340237C>T	ENST00000378910.5	-	7	740	c.741G>A	c.(739-741)tgG>tgA	p.W247*	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	247	Ig-like C2-type 3.				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)			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)			CCAGGCCTGGCCACTCGATGA	0.637																																						ENST00000378910.5	1.000000	0.210000	7.300000e-01	3.200000e-01	0.480000	0.530544	0.480000	0.440000																										0				74						c.(739-741)tgG>tgA		nephrosis 1, congenital, Finnish type (nephrin)							21.0	21.0	21.0					19																	36340237		2203	4297	6500	SO:0001587	stop_gained	4868	0	0					g.chr19:36340237C>T		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.741G>A	chr19.hg19:g.36340237C>T	ENSP00000368190:p.Trp247*	0					NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*|NPHS1_ENST00000591817.1_5'Flank	p.W247*	NM_004646.3	NP_004637.1	1	2	3	2.010022	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	7	740	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		A6NDH2|C3RX61	Nonsense_Mutation	SNP	ENST00000378910.5	0	1	hg19	c.741G>A	CCDS32996.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.074847	0.97262	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.0577	13.646	0.62281	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000343634:W247X	W	-	3	0	0	NPHS1	41032077	41032077	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.486000	0.35530	2.602000	0.87976	0.586000	0.80456	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	0	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-9.326658	1	0.170000				7	7		180	177	0		1			0	0	27	0		9.800914e-01	0	0	0	0	0	0	7	180
KIRREL2	84063	broad.mit.edu	37	19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGGGCTGGCCCTAGGGGG	0.647																																						ENST00000360202.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(184-186)Gcc>Acc		kin of IRRE like 2 (Drosophila)							44.0	52.0	49.0					19																	36348369		2203	4298	6501	SO:0001583	missense	84063	0	0					g.chr19:36348369G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.184G>A	chr19.hg19:g.36348369G>A	ENSP00000353331:p.Ala62Thr	0					KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron	p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	1	2	3	2.010022	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	2	382	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	1	1	hg19	c.184G>A	CCDS12481.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.061013	0.93846	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.67171	-0.25;-0.25	5.35	4.3	0.51218	5.35	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000215	T	0.75679	0.3882	L	0.58354	1.805	0.36210	D	0.85129	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.978	T	0.80520	-0.1346	10	0.87932	D	0	-14.889	9.3277	0.38003	0.0961:0.0:0.9039:0.0	.	62;62;62	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	T	62	ENSP00000262625:A62T;ENSP00000353331:A62T	ENSP00000262625:A62T	A	+	1	0	0	KIRREL2	41040209	41040209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.156000	0.71840	2.672000	0.90937	0.650000	0.86243	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_032123			112	112		469	464	1		1	0		0	0	92	0		1	9.831965e-02	0	0	0	3	0	112	469
KIRREL2	84063	broad.mit.edu	37	19	36349719	36349719	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_ENST00000262625.7_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000592409.1_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAATTGCTGTGGTTCCG	0.597																																						ENST00000360202.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(475-477)Ctg>Ttg		kin of IRRE like 2 (Drosophila)							107.0	103.0	104.0					19																	36349719		2203	4300	6503	SO:0001819	synonymous_variant	84063	0	0					g.chr19:36349719C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.475C>T	chr19.hg19:g.36349719C>T		0					KIRREL2_ENST00000262625.7_Silent_p.L159L|KIRREL2_ENST00000592409.1_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|NPHS1_ENST00000591817.1_Intron	p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	1	2	3	2.010022	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	4	673	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	1	1	hg19	c.475C>T	CCDS12481.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	1		2	2	2	0		0	0	118		118	115	1	2.060000	-20.000000	1	0.170000	NM_032123			110	107		482	475	0		1	0		0	0	118	0		1	6.342054e-01	0	0	0	11	0	110	482
KIRREL2	84063	broad.mit.edu	37	19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	272	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652																																						ENST00000360202.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(814-816)cGc>cAc		kin of IRRE like 2 (Drosophila)							46.0	52.0	50.0					19																	36351456		2203	4300	6503	SO:0001583	missense	84063	0	0					g.chr19:36351456G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.815G>A	chr19.hg19:g.36351456G>A	ENSP00000353331:p.Arg272His	0					KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|NPHS1_ENST00000591817.1_Intron	p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	1	2	3	2.010022	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	7	1013	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	1	1	hg19	c.815G>A	CCDS12481.1	1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462092	0.63513	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.68903	-0.36;-0.14;-0.34	3.99	3.99	0.46301	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180262	0.27084	N	0.021010	T	0.59985	0.2234	N	0.17872	0.535	0.31437	N	0.672468	D;D;D;D;D	0.67145	0.983;0.979;0.992;0.996;0.996	P;P;P;P;P	0.59643	0.685;0.557;0.861;0.855;0.855	T	0.55062	-0.8199	10	0.06494	T	0.89	-10.5667	11.8642	0.52484	0.0:0.0:1.0:0.0	.	272;252;272;222;272	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	272;222;272;252	ENSP00000262625:R272H;ENSP00000345067:R222H;ENSP00000353331:R272H	ENSP00000262625:R272H	R	+	2	0	0	KIRREL2	41043296	41043296	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.235000	0.43044	2.257000	0.74773	0.444000	0.29173	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	0	0	1		2	2	2	1		1	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_032123			116	114		432	429	1		1	0		1	0	73	0		1	3.757502e-01	0	0	0	6	0	116	432
KIRREL2	84063	broad.mit.edu	37	19	36355551	36355551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	576					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGGCCCCATTGTG	0.597																																						ENST00000360202.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1726-1728)gGc>gAc		kin of IRRE like 2 (Drosophila)							195.0	184.0	188.0					19																	36355551		2203	4300	6503	SO:0001630	splice_region_variant	84063	0	0					g.chr19:36355551G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1726-1G>A	chr19.hg19:g.36355551G>A		0					KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|NPHS1_ENST00000591817.1_Intron	p.G576D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	1	2	3	2.010022	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	14	1925	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	1	0	hg19	c.1727G>A	CCDS12481.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855359	0.51376	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.67698	-0.27;-0.04;-0.28	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.410909	0.18096	N	0.151833	T	0.68943	0.3056	L	0.44542	1.39	0.37330	D	0.909922	P;D;P;D;D	0.63046	0.954;0.973;0.954;0.992;0.992	P;P;P;P;P	0.54544	0.476;0.676;0.476;0.755;0.676	T	0.74166	-0.3753	10	0.54805	T	0.06	-5.1472	12.4423	0.55631	0.0:0.0:1.0:0.0	.	576;556;576;526;576	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	576;526;576;556;87	ENSP00000262625:G576D;ENSP00000345067:G526D;ENSP00000353331:G576D	ENSP00000262625:G576D	G	+	2	0	0	KIRREL2	41047391	41047391	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	2.618000	0.46393	2.221000	0.72209	0.313000	0.20887	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_032123	Missense_Mutation		62	60		206	204	1		1	1		0	0	52	0		1	4.233112e-01	0	3	0	3	0	62	206
APLP1	333	broad.mit.edu	37	19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	164	Copper-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCGCATGGACCAATGTG	0.627																																						ENST00000221891.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				33						c.(490-492)atG>atT		amyloid beta (A4) precursor-like protein 1							83.0	70.0	75.0					19																	36362206		2203	4299	6502	SO:0001583	missense	333	0	0					g.chr19:36362206G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.492G>T	chr19.hg19:g.36362206G>T	ENSP00000221891:p.Met164Ile	0					APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I|NPHS1_ENST00000591817.1_5'Flank	p.M164I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	1	2	3	2.010022	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	4	684	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	1	1	hg19	c.492G>T	CCDS32997.1	1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867486	0.91587	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94497	-3.34;-3.44	4.86	4.86	0.63082	4.86	4.86	0.63082	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.56097	D	0.000027	D	0.96664	0.8911	M	0.72894	2.215	0.54753	D	0.999987	P;P;D;D	0.58620	0.917;0.901;0.979;0.983	P;B;D;D	0.72338	0.857;0.398;0.961;0.977	D	0.96868	0.9637	10	0.56958	D	0.05	-12.826	15.4941	0.75634	0.0:0.0:1.0:0.0	.	158;125;164;164	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	125;164	ENSP00000441501:M125I;ENSP00000221891:M164I	ENSP00000221891:M164I	M	+	3	0	0	APLP1	41054046	41054046	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.620000	0.67736	2.257000	0.74773	0.479000	0.44913	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_001024807			19	19		82	81	1		1	1		0	0	24	0		9.999949e-01	9.922071e-01	0	2	0	36	0	19	82
APLP1	333	broad.mit.edu	37	19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAATCAGTGAGCACGAGGGGT	0.577																																						ENST00000221891.4	1.000000	0.290000	5.600000e-01	3.600000e-01	0.440000	0.487643	0.440000	0.430000																										0				33						c.(916-918)gaG>gaT		amyloid beta (A4) precursor-like protein 1							150.0	146.0	147.0					19																	36363452		2203	4300	6503	SO:0001583	missense	333	0	0					g.chr19:36363452G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.918G>T	chr19.hg19:g.36363452G>T	ENSP00000221891:p.Glu306Asp	0					APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	p.E306D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	1	2	3	2.010022	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	7	1110	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	1	1	hg19	c.918G>T	CCDS32997.1	0	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108567	0.77096	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.59638	0.25;0.25	4.89	3.84	0.44239	4.89	3.84	0.44239	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48286	D	0.000197	T	0.71829	0.3386	M	0.77486	2.375	0.44282	D	0.99714	D;D;D;D	0.89917	0.979;1.0;0.998;0.999	P;D;D;D	0.80764	0.837;0.994;0.915;0.949	T	0.73914	-0.3832	10	0.66056	D	0.02	-23.1084	7.9565	0.30047	0.1894:0.0:0.8106:0.0	.	300;267;306;306	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	267;306	ENSP00000441501:E267D;ENSP00000221891:E306D	ENSP00000221891:E306D	E	+	3	2	2	APLP1	41055292	41055292	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.027000	0.30115	2.270000	0.75569	0.462000	0.41574	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	0	0	1		17	2	2	0		0	1	149		149	148	1	2.060000	-3.642935	1	0.170000	NM_001024807			27	27		717	702	0		1	0		0	0	149	0		9.469611e-01	4.539648e-01	0	1	0	40	0	27	717
NFKBID	84807	broad.mit.edu	37	19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V|NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	113					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ATGGTCAGCGGCATTGGGCTC	0.627																																						ENST00000396901.1	1.000000	0.740000	1	8.800000e-01	0.990000	0.957185	0.990000	1.000000																										0				14						c.(337-339)gCc>gTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							57.0	66.0	63.0					19																	36387361		2047	4191	6238	SO:0001583	missense	84807	12	120996	42				g.chr19:36387361G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.338C>T	chr19.hg19:g.36387361G>A	ENSP00000380109:p.Ala113Val	0					NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	p.A113V	NM_139239.1	NP_640332.1	1	2	3	2.010022	Q8NI38	IKBD_HUMAN		7	911	-			Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	1	1	hg19	c.338C>T	CCDS42552.1	1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398000	0.25205	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.67865	-0.29;-0.29	4.81	3.74	0.42951	4.81	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.119358	0.56097	D	0.000032	T	0.59932	0.2230	L	0.39147	1.195	0.80722	D	1	B;B	0.27416	0.178;0.066	B;B	0.34418	0.182;0.053	T	0.58814	-0.7570	10	0.49607	T	0.09	.	11.8805	0.52574	0.0:0.0:0.8239:0.1761	.	265;113	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	265;113	ENSP00000252985:A265V;ENSP00000380109:A113V	ENSP00000252985:A265V	A	-	2	0	0	NFKBID	41079201	41079201	0.996000	0.38824	0.886000	0.34754	0.625000	0.37756	3.571000	0.53841	0.958000	0.37956	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	0	0	1		18	2	2	1		1	1	87		87	86	1	2.060000	-3.318794	1	0.170000	NM_032721			39	39		414	408	0		1	0		1	0	87	0		9.985755e-01	2.183562e-01	0	1	0	9	0	39	414
PIP5K1C	23396	broad.mit.edu	37	19	3644083	3644083	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000335312.3	-	12	1599		c.e12+1		PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma						actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGCCCCTCACCTTCGTCCT	0.711																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.e12+1		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							33.0	39.0	37.0					19																	3644083		2193	4285	6478	SO:0001630	splice_region_variant	23396	0	0					g.chr19:3644083A>G	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1510+1T>C	chr19.hg19:g.3644083A>G		0					PIP5K1C_ENST00000537021.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000589578.1_Splice_Site		NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	1	2	3	2.010022	O60331	PI51C_HUMAN		12	1599	-		Hepatocellular(1079;0.137)	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Splice_Site	SNP	ENST00000335312.3	1	1	hg19		CCDS32872.1	1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395140	0.25205	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.66	3.65	0.41850	4.66	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8133	0.46559	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PIP5K1C	3595083	3595083	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	6.952000	0.75989	0.644000	0.30656	-0.513000	0.04457	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	0	0	1		2	2	2	0		0	0	81		81	77	1	2.060000	-20.000000	1	0.170000	NM_012398	Intron		74	72		370	368	1		1			0	0	81	0		1	0	0	0	0	0	0	74	370
LRFN3	79414	broad.mit.edu	37	19	36435681	36435681	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	LRFN3_ENST00000246529.3_Silent_p.A549A|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	549					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667																																						ENST00000588831.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1645-1647)gcC>gcA		leucine rich repeat and fibronectin type III domain containing 3							41.0	29.0	33.0					19																	36435681		2203	4300	6503	SO:0001819	synonymous_variant	79414	0	0					g.chr19:36435681C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1647C>A	chr19.hg19:g.36435681C>A		0					AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Silent_p.A549A	p.A549A			1	2	3	2.010022	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	4	2701	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Q6UY10	Silent	SNP	ENST00000588831.1	1	1	hg19	c.1647C>A	CCDS12483.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_024509			35	35		129	129	1		1	1		0	0	29	0		1	8.569128e-01	0	2	0	13	0	35	129
ALKBH6	84964	broad.mit.edu	37	19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000252984.7	-	6	372	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ALKBH6_ENST00000486389.1_Missense_Mutation_p.R51W|SYNE4_ENST00000324444.3_5'Flank|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000340477.5_5'Flank			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597																																						ENST00000252984.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(220-222)Cgg>Tgg		alkB, alkylation repair homolog 6 (E. coli)		G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	33.0	28.0	29.0		304,304	3.0	1.0	19	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	ALKBH6	NM_032878.3,NM_198867.1	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	102/267,102/162	36501912	2,13004	2203	4300	6503	SO:0001583	missense	84964	11	121398	35				g.chr19:36501912G>A	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.220C>T	chr19.hg19:g.36501912G>A	ENSP00000252984:p.Arg74Trp	0					ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000486389.1_Missense_Mutation_p.R51W|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W	p.R74W			1	2	3	2.010022	Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	6	372	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	1	1	hg19	c.220C>T		1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068299	0.76301	4.54E-4	0.0	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	1.53;1.53;1.53	5.25	2.96	0.34315	5.25	2.96	0.34315	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.30420	N	0.778241	D;D;D;D	0.76494	0.993;0.999;0.998;0.999	P;P;P;P	0.59948	0.533;0.866;0.849;0.825	T	0.27434	-1.0074	9	0.72032	D	0.01	.	10.652	0.45653	0.0:0.0:0.6546:0.3454	.	74;95;102;74	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	W	102;74;74;74	ENSP00000368152:R102W;ENSP00000436742:R74W;ENSP00000252984:R74W	ENSP00000252984:R74W	R	-	1	2	2	ALKBH6	41193752	41193752	0.061000	0.20836	0.980000	0.43619	0.994000	0.84299	1.723000	0.38053	1.169000	0.42739	0.591000	0.81541	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000	NM_032878			34	33		96	94	1		1	1		0	0	28	0		1	1	0	39	0	78	0	34	96
CLIP3	25999	broad.mit.edu	37	19	36507083	36507083	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	ALKBH6_ENST00000252984.7_5'Flank|ALKBH6_ENST00000486389.1_5'Flank|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_5'Flank|ALKBH6_ENST00000485128.1_5'Flank|ALKBH6_ENST00000495116.2_5'Flank|AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.L541L	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	541	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607																																						ENST00000360535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1621-1623)Ctg>Ttg		CAP-GLY domain containing linker protein 3							107.0	87.0	94.0					19																	36507083		2203	4300	6503	SO:0001819	synonymous_variant	25999	0	0					g.chr19:36507083G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1621C>T	chr19.hg19:g.36507083G>A		0					ALKBH6_ENST00000495116.2_5'Flank|CLIP3_ENST00000593074.1_Silent_p.L541L|ALKBH6_ENST00000486389.1_5'Flank|ALKBH6_ENST00000252984.7_5'Flank|ALKBH6_ENST00000378875.3_5'Flank|AC002116.7_ENST00000586962.1_RNA|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_5'Flank	p.L541L	NM_015526.2	NP_056341.1	1	2	3	2.010022	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	14	1848	-	Esophageal squamous(110;0.162)		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	1	1	hg19	c.1621C>T	CCDS12486.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_015526			36	36		144	141	0		1	0		0	0	42	0		1	9.981193e-01	0	0	0	41	0	36	144
CLIP3	25999	broad.mit.edu	37	19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	399					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATGATGGGGTCTTCTTCTTG	0.597																																						ENST00000360535.4	1.000000	0.200000	6.500000e-01	3.000000e-01	0.430000	0.488456	0.430000	0.400000																										0				23						c.(1195-1197)Acc>Gcc		CAP-GLY domain containing linker protein 3							68.0	68.0	68.0					19																	36508882		2203	4300	6503	SO:0001583	missense	25999	0	0					g.chr19:36508882T>C	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1195A>G	chr19.hg19:g.36508882T>C	ENSP00000353732:p.Thr399Ala	0					CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A|AC002116.7_ENST00000586962.1_RNA	p.T399A	NM_015526.2	NP_056341.1	1	2	3	2.010022	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	10	1422	-	Esophageal squamous(110;0.162)		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	1	1	hg19	c.1195A>G	CCDS12486.1	0	.	.	.	.	.	.	.	.	.	.	T	6.363	0.435008	0.12045	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71461	-0.57	4.77	0.103	0.14526	4.77	0.103	0.14526	Cytoskeleton-associated protein, Gly-rich domain (1);	0.627025	0.15831	N	0.242503	T	0.40145	0.1105	N	0.08118	0	0.21802	N	0.999539	B	0.10296	0.003	B	0.06405	0.002	T	0.17531	-1.0366	10	0.11794	T	0.64	-4.0832	3.6991	0.08375	0.3297:0.0:0.4571:0.2133	.	399	Q96DZ5	CLIP3_HUMAN	A	399;281;375	ENSP00000353732:T399A	ENSP00000353732:T399A	T	-	1	0	0	CLIP3	41200722	41200722	0.990000	0.36364	0.132000	0.22025	0.937000	0.57800	0.774000	0.26675	-0.164000	0.10927	-0.527000	0.04329	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.702539	1	0.170000	NM_015526			8	8		226	223	0		1	0		0	0	50	0		9.891662e-01	4.753935e-01	0	1	0	42	0	8	226
CLIP3	25999	broad.mit.edu	37	19	36517067	36517067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G221G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	221					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G221G(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637																																						ENST00000360535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G221G(1)	lung(1)	23						c.(661-663)ggC>ggT		CAP-GLY domain containing linker protein 3							46.0	43.0	44.0					19																	36517067		2203	4300	6503	SO:0001819	synonymous_variant	25999	0	0					g.chr19:36517067G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.663C>T	chr19.hg19:g.36517067G>A		0					CLIP3_ENST00000593074.1_Silent_p.G221G|AC002116.7_ENST00000586962.1_RNA	p.G221G	NM_015526.2	NP_056341.1	1	2	3	2.010022	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	6	890	-	Esophageal squamous(110;0.162)		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	1	1	hg19	c.663C>T	CCDS12486.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_015526			67	67		215	213	1		1	0		0	0	50	0		1	9.993076e-01	0	0	0	38	0	67	215
CLIP3	25999	broad.mit.edu	37	19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	181					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677																																						ENST00000360535.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999838	0.990000	1.000000																										0				23						c.(541-543)Ctg>Atg		CAP-GLY domain containing linker protein 3							54.0	48.0	50.0					19																	36517509		2203	4300	6503	SO:0001583	missense	25999	0	0					g.chr19:36517509G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.541C>A	chr19.hg19:g.36517509G>T	ENSP00000353732:p.Leu181Met	0					CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M|AC002116.7_ENST00000586962.1_RNA	p.L181M	NM_015526.2	NP_056341.1	1	2	3	2.010022	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	5	768	-	Esophageal squamous(110;0.162)		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	1	1	hg19	c.541C>A	CCDS12486.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160054	0.78226	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.72505	-0.66	4.59	4.59	0.56863	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.83459	0.5259	M	0.87456	2.885	0.49687	D	0.999814	D	0.76494	0.999	D	0.87578	0.998	D	0.84463	0.0595	10	0.54805	T	0.06	-9.9424	8.5079	0.33199	0.1034:0.0:0.8966:0.0	.	181	Q96DZ5	CLIP3_HUMAN	M	181;63;157	ENSP00000353732:L181M	ENSP00000353732:L181M	L	-	1	2	2	CLIP3	41209349	41209349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.996000	0.49449	2.382000	0.81193	0.455000	0.32223	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	0		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_015526			32	30		199	194	1		1	0		0	0	35	0		1	7.349395e-01	0	0	0	18	0	32	199
WDR62	284403	broad.mit.edu	37	19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000270301.7	+	22	2567	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000401500.2_Missense_Mutation_p.R856H			O43379	WDR62_HUMAN	WD repeat domain 62	856					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				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)			CACGCCAAGCGCAGCTACCAG	0.622																																						ENST00000270301.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2566-2568)cGc>cAc		WD repeat domain 62							35.0	33.0	34.0					19																	36590347		2203	4300	6503	SO:0001583	missense	284403	0	0					g.chr19:36590347G>A	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.2567G>A	chr19.hg19:g.36590347G>A	ENSP00000270301:p.Arg856His	0					WDR62_ENST00000401500.2_Missense_Mutation_p.R856H	p.R856H			1	2	3	2.010022	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	22	2567	+	Esophageal squamous(110;0.162)		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	1	1	hg19	c.2567G>A	CCDS33001.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994775	0.54041	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47177	0.85;0.85	5.31	3.19	0.36642	5.31	3.19	0.36642	.	0.319061	0.27223	N	0.020349	T	0.40040	0.1101	M	0.67953	2.075	0.80722	D	1	B;B	0.32893	0.389;0.175	B;B	0.27796	0.083;0.023	T	0.33574	-0.9863	10	0.42905	T	0.14	-17.2774	7.2465	0.26125	0.1954:0.0:0.8046:0.0	.	856;856	O43379-4;O43379	.;WDR62_HUMAN	H	856	ENSP00000384792:R856H;ENSP00000270301:R856H	ENSP00000270301:R856H	R	+	2	0	0	WDR62	41282187	41282187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.029000	0.41098	1.243000	0.43853	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.278236	1	0.170000	NM_015671			64	63		302	299	1		1	0		0	0	68	0		1	2.877545e-01	0	1	0	5	0	64	302
CAPNS1	826	broad.mit.edu	37	19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	201	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTTGAGGCAGCAGGTATGGC	0.572																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(601-603)Gca>Aca		calpain, small subunit 1							160.0	157.0	158.0					19																	36636953		2203	4300	6503	SO:0001583	missense	826	2	121412	38				g.chr19:36636953G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.601G>A	chr19.hg19:g.36636953G>A	ENSP00000246533:p.Ala201Thr	0					CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T	p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	1	2	3	2.010022	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)	8	1199	+	Esophageal squamous(110;0.162)		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	1	1	hg19	c.601G>A	CCDS12489.1	1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324394	0.81580	.	.	ENSG00000126247	ENST00000246533	T	0.47869	0.83	5.19	5.19	0.71726	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72494	-0.4276	10	0.72032	D	0.01	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	201	P04632	CPNS1_HUMAN	T	201	ENSP00000246533:A201T	ENSP00000246533:A201T	A	+	1	0	0	CAPNS1	41328793	41328793	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.821000	0.92009	2.576000	0.86940	0.561000	0.74099	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2	1	0	1		2	2	2	0		0	0	227		227	218	1	2.060000	-20.000000	1	0.170000				211	206		909	880	1		1	1		0	0	227	0		1	1	0	409	0	819	0	211	909
ZNF565	147929	broad.mit.edu	37	19	36673443	36673443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000392173.2_Silent_p.Y475Y|ZNF565_ENST00000304116.5_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418																																						ENST00000355114.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1543-1545)taC>taT		zinc finger protein 565							107.0	96.0	100.0					19																	36673443		2203	4300	6503	SO:0001819	synonymous_variant	147929	1	121412	29				g.chr19:36673443G>A	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.1545C>T	chr19.hg19:g.36673443G>A		0					ZNF565_ENST00000304116.5_Silent_p.Y475Y|ZNF565_ENST00000392173.2_Silent_p.Y475Y	p.Y515Y			1	2	3	2.010022	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)	5	2271	-	Esophageal squamous(110;0.162)		B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	1	1	hg19	c.1545C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.452324	1	0.170000	NM_152477			52	51		231	230	1		1	1		0	0	55	0		1	3.837866e-01	0	5	0	2	0	52	231
ZFP14	57677	broad.mit.edu	37	19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ATTCATAGAGCTTTTCAGCAG	0.418																																						ENST00000270001.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(928-930)aaG>aaT		ZFP14 zinc finger protein							98.0	101.0	100.0					19																	36831798		2203	4300	6503	SO:0001583	missense	57677	0	0					g.chr19:36831798C>A	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.930G>T	chr19.hg19:g.36831798C>A	ENSP00000270001:p.Lys310Asn	0						p.K310N	NM_020917.2	NP_065968.1	1	2	3	2.010022	Q9HCL3	ZFP14_HUMAN		5	1045	-	Esophageal squamous(110;0.162)		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	1	1	hg19	c.930G>T	CCDS33002.1	1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428675	0.43122	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26067	1.76	3.92	-2.22	0.06952	3.92	-2.22	0.06952	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000215	T	0.38081	0.1027	M	0.70787	2.145	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.65987	0.94;0.94	T	0.28681	-1.0036	10	0.87932	D	0	.	5.1856	0.15182	0.1533:0.2845:0.0:0.5622	.	310;310	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	310	ENSP00000270001:K310N	ENSP00000270001:K310N	K	-	3	2	2	ZFP14	41523638	41523638	0.022000	0.18835	0.988000	0.46212	0.970000	0.65996	-0.718000	0.04980	-0.155000	0.11098	-0.311000	0.09066	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_020917			90	92		401	393	1		1	0		0	0	93	0		1	8.443689e-01	0	1	0	16	0	90	401
ZFP82	284406	broad.mit.edu	37	19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GAGCCTGTCAGCACTATTAAG	0.443																																						ENST00000392161.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(916-918)gCt>gAt		ZFP82 zinc finger protein							138.0	137.0	137.0					19																	36884325		2203	4300	6503	SO:0001583	missense	284406	0	0					g.chr19:36884325G>T	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.917C>A	chr19.hg19:g.36884325G>T	ENSP00000431265:p.Ala306Asp	0					ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	p.A306D	NM_133466.2	NP_597723.1	1	2	3	2.010022	Q8N141	ZFP82_HUMAN		5	1159	-			Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	1	1	hg19	c.917C>A	CCDS12493.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211222	0.58343	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.14516	2.5;2.5	4.15	1.73	0.24493	4.15	1.73	0.24493	Zinc finger, C2H2 (1);	0.374530	0.19582	N	0.110835	T	0.11537	0.0281	N	0.04043	-0.29	0.29207	N	0.874812	P	0.50528	0.936	P	0.59424	0.857	T	0.04307	-1.0961	10	0.87932	D	0	.	6.202	0.20581	0.1084:0.2875:0.6041:0.0	.	306	Q8N141	ZFP82_HUMAN	D	306	ENSP00000431265:A306D;ENSP00000446080:A306D	ENSP00000431265:A306D	A	-	2	0	0	ZFP82	41576165	41576165	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.338000	0.19858	1.064000	0.40671	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_133466			106	104		502	492	1		1	0		0	0	110	0		1	2.137569e-01	0	0	0	5	0	106	502
ZNF566	84924	broad.mit.edu	37	19	36940724	36940724	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36940724G>A	ENST00000434377.2	-	5	493	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZNF566_ENST00000454319.1_Missense_Mutation_p.H139Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGATTGAAATGTCCCCCCTGA	0.398																																						ENST00000434377.2	1.000000	0.100000	2.500000e-01	1.300000e-01	0.180000	0.253366	0.180000	0.170000																										0				24						c.(412-414)Cat>Tat		zinc finger protein 566							163.0	162.0	162.0					19																	36940724		2203	4300	6503	SO:0001583	missense	84924	0	0					g.chr19:36940724G>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.412C>T	chr19.hg19:g.36940724G>A	ENSP00000415520:p.His138Tyr	0					ZNF566_ENST00000454319.1_Missense_Mutation_p.H139Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y	p.H138Y	NM_032838.4	NP_116227.1	1	2	3	2.010022	Q969W8	ZN566_HUMAN		5	493	-	Esophageal squamous(110;0.162)		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	0	1	hg19	c.412C>T	CCDS12494.1	0	.	.	.	.	.	.	.	.	.	.	G	0	-2.848285	0.00067	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.05717	3.54;3.54;3.54;3.54;3.4;6.02	3.72	2.66	0.31614	3.72	2.66	0.31614	.	1.022170	0.07830	N	0.961247	T	0.05181	0.0138	L	0.39514	1.22	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.46762	-0.9168	10	0.02654	T	1	.	6.6291	0.22847	0.0:0.2007:0.5923:0.207	.	139;138	B7ZL95;Q969W8	.;ZN566_HUMAN	Y	139;138;139;138;138;139	ENSP00000394207:H139Y;ENSP00000415520:H138Y;ENSP00000376010:H139Y;ENSP00000401259:H138Y;ENSP00000411526:H138Y;ENSP00000400651:H139Y	ENSP00000376010:H139Y	H	-	1	0	0	ZNF566	41632564	41632564	0.000000	0.05858	0.035000	0.18076	0.288000	0.27193	0.123000	0.15708	1.117000	0.41842	0.555000	0.69702	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	0	0	1		2	2	2	0		0	0	245		245	242	1	2.060000	-2.921533	1	0.170000	NM_032838			15	15		990	971	0		1	0		0	0	245	0		9.998484e-01	1.324641e-02	0	0	0	11	0	15	990
ZNF260	339324	broad.mit.edu	37	19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	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	372					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CAAGGGTTGAGAACTGAGAAA	0.423																																						ENST00000523638.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1114-1116)ttC>ttA		zinc finger protein 260							120.0	109.0	112.0					19																	37005025		2203	4300	6503	SO:0001583	missense	339324	0	0					g.chr19:37005025G>T	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.1116C>A	chr19.hg19:g.37005025G>T	ENSP00000429803:p.Phe372Leu	0					ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L|ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L	p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	1	2	3	2.010022	Q3ZCT1	ZN260_HUMAN		3	2237	-	Esophageal squamous(110;0.162)		Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	1	1	hg19	c.1116C>A	CCDS33003.1	1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242476	0.10077	.	.	ENSG00000254004	ENST00000523638	T	0.59083	0.29	4.17	3.04	0.35103	4.17	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	N	0.03294	-0.36	0.09310	N	0.999996	B	0.34015	0.435	B	0.32393	0.145	T	0.07028	-1.0794	9	0.20046	T	0.44	.	11.7824	0.52021	0.0:0.1799:0.8201:0.0	.	372	Q3ZCT1	ZN260_HUMAN	L	372	ENSP00000429803:F372L	ENSP00000429803:F372L	F	-	3	2	2	ZNF260	41696865	41696865	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-2.041000	0.01415	2.286000	0.76751	0.561000	0.74099	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_001012756			97	94		445	436	1		1	1		0	0	97	0		1	9.641942e-01	0	5	0	22	0	97	445
ZNF260	339324	broad.mit.edu	37	19	37005586	37005586	+	Silent	SNP	G	G	T	rs575693709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	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	185					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCCAGTATGGATGTTCTGAT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22638	0.001		0.0	False		,,,				2504	0.0					ENST00000523638.1	1.000000	0.260000	5.100000e-01	3.200000e-01	0.400000	0.450478	0.400000	0.390000																										0				15						c.(553-555)atC>atA		zinc finger protein 260							169.0	171.0	170.0					19																	37005586		2203	4300	6503	SO:0001819	synonymous_variant	339324	4	121410	39				g.chr19:37005586G>T	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.555C>A	chr19.hg19:g.37005586G>T		0					ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I|ZNF260_ENST00000588993.1_Silent_p.I185I	p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	1	2	3	2.010022	Q3ZCT1	ZN260_HUMAN		3	1676	-	Esophageal squamous(110;0.162)		Q0VF43	Silent	SNP	ENST00000523638.1	1	1	hg19	c.555C>A	CCDS33003.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	0	0	1		2	2	2	0		0	0	183		183	179	1	2.060000	-3.032676	1	0.170000	NM_001012756			28	29		821	811	0		1	0		0	0	183	0		1	2.475022e-01	0	0	0	28	0	28	821
THEG	51298	broad.mit.edu	37	19	371285	371285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	225					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTCTGTATTCCAGGGAGGAC	0.632																																						ENST00000342640.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(673-675)Gaa>Aaa		theg spermatid protein							113.0	117.0	116.0					19																	371285		2203	4300	6503	SO:0001583	missense	51298	0	0					g.chr19:371285C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.673G>A	chr19.hg19:g.371285C>T	ENSP00000340088:p.Glu225Lys	0					THEG_ENST00000346878.2_Missense_Mutation_p.E201K	p.E225K	NM_016585.4	NP_057669.1	1	2	3	2.010022	Q9P2T0	THEG_HUMAN		6	715	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	1	1	hg19	c.673G>A	CCDS12025.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546472	0.45383	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.24538	1.85;1.85	4.11	3.01	0.34805	4.11	3.01	0.34805	.	10.291900	0.00166	N	0.000000	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	P;P	0.49559	0.827;0.925	P;P	0.49597	0.52;0.616	T	0.27806	-1.0063	10	0.23891	T	0.37	-21.2135	9.5418	0.39257	0.0:0.7843:0.2157:0.0	.	201;225	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	K	225;201	ENSP00000340088:E225K;ENSP00000264820:E201K	ENSP00000340088:E225K	E	-	1	0	0	THEG	322285	322285	0.167000	0.22975	0.013000	0.15412	0.044000	0.14063	1.548000	0.36201	1.002000	0.39104	0.655000	0.94253	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2	0	0	1		2	2	2	1		1	0	227		227	227	1	2.060000	-20.000000	1	0.170000				231	226		888	863	1		1			1	0	227	0		1	0	0	0	0	0	0	231	888
ZNF382	84911	broad.mit.edu	37	19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000292928.2	+	5	1189	c.1076A>C	c.(1075-1077)aAg>aCg	p.K359T	ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T|ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.K358T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	359	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)			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)			GATTGTGGGAAGTCCTTCCGC	0.478																																						ENST00000292928.2	1.000000	0.490000	9.500000e-01	6.000000e-01	0.740000	0.763253	0.740000	1.000000																										0				34						c.(1075-1077)aAg>aCg		zinc finger protein 382							77.0	79.0	79.0					19																	37117875		2203	4300	6503	SO:0001583	missense	84911	0	0					g.chr19:37117875A>C	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.1076A>C	chr19.hg19:g.37117875A>C	ENSP00000292928:p.Lys359Thr	0					ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T|ZNF382_ENST00000435416.1_Missense_Mutation_p.K358T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T	p.K359T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	1	2	3	2.010022	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	5	1189	+	Esophageal squamous(110;0.198)		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	1	1	hg19	c.1076A>C	CCDS33004.1	0	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843785	0.71488	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000477	T	0.56108	0.1963	M	0.89534	3.04	0.39365	D	0.965996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.972	T	0.67169	-0.5738	10	0.87932	D	0	.	12.0011	0.53230	1.0:0.0:0.0:0.0	.	358;358;359	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	T	310;359;358;358	ENSP00000389722:K310T;ENSP00000292928:K359T;ENSP00000407593:K358T;ENSP00000410113:K358T	ENSP00000292928:K359T	K	+	2	0	0	ZNF382	41809715	41809715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.007000	0.58848	0.482000	0.46254	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_032825			25	24		382	375	0		1	0		0	0	83	0		9.999998e-01	0	0	0	0	1	0	25	382
ZNF567	163081	broad.mit.edu	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433																																						ENST00000536254.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1375-1377)Cgc>Tgc		zinc finger protein 567							75.0	79.0	78.0					19																	37211001		2203	4300	6503	SO:0001583	missense	163081	5	121412	39				g.chr19:37211001C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1375C>T	chr19.hg19:g.37211001C>T	ENSP00000441838:p.Arg459Cys	0					ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C	p.R459C			1	2	3	2.010022	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	6	1597	+	Esophageal squamous(110;0.198)		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	1	1	hg19	c.1375C>T		1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	0	ZNF567	41902841	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	1	0	1		2	2	2	0		0	0	93		93	94	1	2.060000	-2.559422	1	0.170000	NM_152603			72	72		310	302	1		1	1		0	0	93	0		1	8.768277e-01	0	3	0	15	0	72	310
THEG	51298	broad.mit.edu	37	19	372691	372691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	192					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCCACGCGGCGGGACACCGC	0.552																																						ENST00000342640.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999840	0.990000	1.000000																										0				29						c.(574-576)cGc>cAc		theg spermatid protein							117.0	100.0	106.0					19																	372691		2203	4300	6503	SO:0001583	missense	51298	1	121412	32				g.chr19:372691C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.575G>A	chr19.hg19:g.372691C>T	ENSP00000340088:p.Arg192His	0					THEG_ENST00000346878.2_Missense_Mutation_p.R168H	p.R192H	NM_016585.4	NP_057669.1	1	2	3	2.010022	Q9P2T0	THEG_HUMAN		5	617	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	1	1	hg19	c.575G>A	CCDS12025.1	1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076990	0.20227	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.23	3.31	-3.36	0.04913	3.31	-3.36	0.04913	.	2.622300	0.01419	N	0.014297	T	0.32585	0.0834	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.986;0.994	P;P	0.54499	0.674;0.754	T	0.40961	-0.9535	10	0.56958	D	0.05	-11.6402	4.0262	0.09688	0.0:0.3076:0.3472:0.3452	.	168;192	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	H	192;168	ENSP00000340088:R192H;ENSP00000264820:R168H	ENSP00000340088:R192H	R	-	2	0	0	THEG	323691	323691	0.001000	0.12720	0.005000	0.12908	0.092000	0.18411	-1.869000	0.01643	-0.528000	0.06366	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.319998	1	0.170000				36	36		233	227	1		1			0	0	68	0		1	0	0	0	0	0	0	36	233
TJP3	27134	broad.mit.edu	37	19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	162					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCATGGGCGTAGGAGCCCA	0.711																																						ENST00000541714.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(484-486)cGt>cAt		tight junction protein 3							18.0	19.0	18.0					19																	3730576		2175	4225	6400	SO:0001583	missense	27134	5	120920	37				g.chr19:3730576G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.485G>A	chr19.hg19:g.3730576G>A	ENSP00000439278:p.Arg162His	0					TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H	p.R162H	NM_001267560.1	NP_001254489.1	1	2	3	2.010022	O95049	ZO3_HUMAN		5	947	+			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	1	1	hg19	c.485G>A	CCDS32873.2	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422210	0.25639	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10005	2.94;3.09;2.92;3.02	3.75	2.68	0.31781	3.75	2.68	0.31781	.	0.912560	0.09230	N	0.830629	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.63046	0.989;0.923;0.992;0.98	P;P;B;P	0.51170	0.661;0.487;0.379;0.661	T	0.29882	-0.9997	10	0.27082	T	0.32	.	7.5557	0.27822	0.0:0.1813:0.6317:0.187	.	181;181;162;162	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	162;126;162;181	ENSP00000439278:R162H;ENSP00000439991:R126H;ENSP00000371438:R162H;ENSP00000262968:R181H	ENSP00000262968:R181H	R	+	2	0	0	TJP3	3681576	3681576	0.998000	0.40836	0.370000	0.25965	0.078000	0.17371	4.502000	0.60400	0.752000	0.32923	0.491000	0.48974	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-3.277955	1	0.170000				54	52		213	211	0		1	1		0	0	52	0		1	9.988141e-01	0	20	0	23	0	54	213
ZNF567	163081	broad.mit.edu	37	19	37211114	37211114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000536254.2	+	6	1710	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	ZNF567_ENST00000392163.2_Silent_p.H465H|ZNF567_ENST00000585696.1_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H			Q8N184	ZN567_HUMAN	zinc finger protein 567	496					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGATCATCACCGAACTCACA	0.403																																						ENST00000536254.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(1486-1488)caC>caT		zinc finger protein 567							77.0	75.0	75.0					19																	37211114		2203	4300	6503	SO:0001819	synonymous_variant	163081	0	0					g.chr19:37211114C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1488C>T	chr19.hg19:g.37211114C>T		0					ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000585696.1_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.H465H	p.H496H			1	2	3	2.010022	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	6	1710	+	Esophageal squamous(110;0.198)		B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	1	1	hg19	c.1488C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-19.999980	1	0.170000	NM_152603			49	48		262	255	1		1	0		0	0	86	0		1	7.084760e-01	0	1	0	14	0	49	262
ZNF790	388536	broad.mit.edu	37	19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	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	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			GAACCCCAGATAAAAGATTTC	0.393																																						ENST00000356725.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1630-1632)Atc>Ttc		zinc finger protein 790							112.0	112.0	112.0					19																	37309616		2203	4300	6503	SO:0001583	missense	388536	0	0					g.chr19:37309616T>A	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.1630A>T	chr19.hg19:g.37309616T>A	ENSP00000349161:p.Ile544Phe	0					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.I544F	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	1	2	3	2.010022	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	5	1750	-	Esophageal squamous(110;0.183)			Missense_Mutation	SNP	ENST00000356725.4	1	1	hg19	c.1630A>T	CCDS12496.1	1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.140997	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.60672	0.17	3.2	2.17	0.27698	3.2	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	N	0.19112	0.55	0.20926	N	0.999826	P	0.50369	0.934	P	0.50314	0.637	T	0.21655	-1.0239	9	0.18276	T	0.48	.	5.7212	0.17988	0.0:0.2363:0.0:0.7637	.	544	Q6PG37	ZN790_HUMAN	F	544	ENSP00000349161:I544F	ENSP00000349161:I544F	I	-	1	0	0	ZNF790	42001456	42001456	0.000000	0.05858	0.270000	0.24601	0.898000	0.52572	-2.284000	0.01154	0.437000	0.26423	0.402000	0.26972	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_206894			142	141		497	484	1		1	0		0	0	137	0		1	3.100221e-01	0	1	0	4	0	142	497
ZNF790	388536	broad.mit.edu	37	19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	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	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			CGAAGCCCAAGTAAAAGTCTT	0.418																																						ENST00000356725.4	1.000000	0.160000	3.900000e-01	2.200000e-01	0.290000	0.351259	0.290000	0.280000																										0				32						c.(1294-1296)aCt>aTt		zinc finger protein 790							90.0	91.0	91.0					19																	37309951		2203	4299	6502	SO:0001583	missense	388536	0	0					g.chr19:37309951G>A	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.1295C>T	chr19.hg19:g.37309951G>A	ENSP00000349161:p.Thr432Ile	0					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.T432I	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	1	2	3	2.010022	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	5	1415	-	Esophageal squamous(110;0.183)			Missense_Mutation	SNP	ENST00000356725.4	1	1	hg19	c.1295C>T	CCDS12496.1	0	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232322	0.05983	.	.	ENSG00000197863	ENST00000356725	T	0.07688	3.17	3.14	-0.779	0.10973	3.14	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	9	0.16896	T	0.51	.	0.6109	0.00761	0.4251:0.1728:0.2325:0.1696	.	432	Q6PG37	ZN790_HUMAN	I	432	ENSP00000349161:T432I	ENSP00000349161:T432I	T	-	2	0	0	ZNF790	42001791	42001791	0.000000	0.05858	0.009000	0.14445	0.488000	0.33401	-3.108000	0.00601	0.004000	0.14682	-0.339000	0.08088	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	0	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-12.591710	1	0.170000	NM_206894			16	16		663	649	0		1	0		0	0	147	0		9.999207e-01	2.083414e-02	0	0	0	9	0	16	663
TJP3	27134	broad.mit.edu	37	19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	331					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGGAGAGTCCCCGGCTT	0.552																																						ENST00000541714.2	1.000000	0.210000	4.500000e-01	2.700000e-01	0.340000	0.399413	0.340000	0.330000																										0				26						c.(991-993)aGt>aAt		tight junction protein 3							92.0	102.0	98.0					19																	3735569		2203	4300	6503	SO:0001583	missense	27134	0	0					g.chr19:3735569G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.992G>A	chr19.hg19:g.3735569G>A	ENSP00000439278:p.Ser331Asn	0					TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N	p.S331N	NM_001267560.1	NP_001254489.1	1	2	3	2.010022	O95049	ZO3_HUMAN		9	1454	+			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	1	1	hg19	c.992G>A	CCDS32873.2	0	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794754	0.02862	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.15;3.04;3.13	3.35	1.06	0.20224	3.35	1.06	0.20224	.	1.018930	0.07818	N	0.959273	T	0.08891	0.0220	L	0.29908	0.895	0.24971	N	0.991662	B;B;B;B	0.12630	0.003;0.006;0.003;0.003	B;B;B;B	0.16289	0.005;0.015;0.004;0.005	T	0.39482	-0.9612	10	0.30854	T	0.27	.	9.3428	0.38089	0.0:0.4549:0.5451:0.0	.	350;364;345;331	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	N	331;295;345;364	ENSP00000439278:S331N;ENSP00000439991:S295N;ENSP00000371438:S345N;ENSP00000262968:S364N	ENSP00000262968:S364N	S	+	2	0	0	TJP3	3686569	3686569	0.854000	0.29725	0.539000	0.28077	0.153000	0.21895	1.145000	0.31577	0.377000	0.24735	0.511000	0.50034	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	0	0	1		16	2	2	0		0	1	173		173	172	1	2.060000	-3.564867	1	0.170000				23	22		792	762	0		1	1		0	0	173	0		8.793835e-01	9.846821e-01	0	18	0	212	0	23	792
ZNF790	388536	broad.mit.edu	37	19	37310733	37310733	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	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	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			GTTCTTTAAATTCATTCAGTT	0.383																																						ENST00000356725.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(511-513)gaA>gaG		zinc finger protein 790							109.0	108.0	108.0					19																	37310733		2203	4300	6503	SO:0001819	synonymous_variant	388536	0	0					g.chr19:37310733T>C	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.513A>G	chr19.hg19:g.37310733T>C		0					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.E171E	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	1	2	3	2.010022	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	5	633	-	Esophageal squamous(110;0.183)			Silent	SNP	ENST00000356725.4	1	1	hg19	c.513A>G	CCDS12496.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_206894			104	103		413	407	1		1	0		0	0	86	0		1	6.276429e-01	0	0	0	10	0	104	413
ZNF345	25850	broad.mit.edu	37	19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y			Q14585	ZN345_HUMAN	zinc finger protein 345	232					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)			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)			CCTTATGAATGCAAAGCATGT	0.418																																						ENST00000529555.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(694-696)tGc>tAc		zinc finger protein 345							78.0	75.0	76.0					19																	37368427		2203	4300	6503	SO:0001583	missense	25850	1	121412	32				g.chr19:37368427G>A	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.695G>A	chr19.hg19:g.37368427G>A	ENSP00000431202:p.Cys232Tyr	0					ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.C232Y			1	2	3	2.010022	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	2	1483	+	Esophageal squamous(110;0.183)			Missense_Mutation	SNP	ENST00000529555.1	1	1	hg19	c.695G>A	CCDS12497.1	1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599527	0.66332	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85088	-1.94;-1.94	4.14	4.14	0.48551	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93167	0.7824	M	0.89601	3.045	0.39967	D	0.974745	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.72032	D	0.01	.	14.2701	0.66147	0.0:0.0:1.0:0.0	.	232	Q14585	ZN345_HUMAN	Y	232	ENSP00000431216:C232Y;ENSP00000431202:C232Y	ENSP00000431216:C232Y	C	+	2	0	0	ZNF345	42060267	42060267	1.000000	0.71417	0.769000	0.31535	0.925000	0.55904	6.633000	0.74286	2.280000	0.76307	0.561000	0.74099	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000				56	55		284	278	1		1	1		0	0	90	0		1	3.301962e-01	0	4	0	3	0	56	284
ZNF345	25850	broad.mit.edu	37	19	37368905	37368905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000589046.1_Silent_p.I391I			Q14585	ZN345_HUMAN	zinc finger protein 345	391					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)			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)			ACCAGCTAATCCATACTGGTG	0.423																																						ENST00000529555.1	1.000000	0.340000	7.900000e-01	4.500000e-01	0.590000	0.624647	0.590000	0.560000																										0				24						c.(1171-1173)atC>atT		zinc finger protein 345							85.0	80.0	82.0					19																	37368905		2203	4300	6503	SO:0001819	synonymous_variant	25850	0	0					g.chr19:37368905C>T	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.1173C>T	chr19.hg19:g.37368905C>T		0					ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.I391I			1	2	3	2.010022	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	2	1961	+	Esophageal squamous(110;0.183)			Silent	SNP	ENST00000529555.1	1	1	hg19	c.1173C>T	CCDS12497.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-17.391810	1	0.170000				16	15		318	313	0		1	1		0	0	76	0		9.999285e-01	7.450336e-02	0	2	0	7	0	16	318
ZNF345	25850	broad.mit.edu	37	19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N			Q14585	ZN345_HUMAN	zinc finger protein 345	393					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)			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)			CTAATCCATACTGGTGAAAGA	0.423																																						ENST00000529555.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1177-1179)aCt>aAt		zinc finger protein 345							84.0	79.0	81.0					19																	37368910		2203	4300	6503	SO:0001583	missense	25850	0	0					g.chr19:37368910C>A	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.1178C>A	chr19.hg19:g.37368910C>A	ENSP00000431202:p.Thr393Asn	0					ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.T393N			1	2	3	2.010022	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	2	1966	+	Esophageal squamous(110;0.183)			Missense_Mutation	SNP	ENST00000529555.1	1	1	hg19	c.1178C>A	CCDS12497.1	1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714819	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.26067	1.76;1.76	3.93	1.46	0.22682	3.93	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.46670	1.46	0.24034	N	0.996108	P	0.34826	0.471	B	0.38683	0.279	T	0.26224	-1.0109	9	0.72032	D	0.01	.	11.4064	0.49900	0.0:0.6517:0.3483:0.0	.	393	Q14585	ZN345_HUMAN	N	393;393;157	ENSP00000431216:T393N;ENSP00000431202:T393N	ENSP00000442320:T157N	T	+	2	0	0	ZNF345	42060750	42060750	0.001000	0.12720	0.997000	0.53966	0.616000	0.37450	1.183000	0.32041	0.915000	0.36847	0.561000	0.74099	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				60	58		269	264	1		1	0		0	0	76	0		1	3.792276e-01	0	0	0	7	0	60	269
ZNF829	374899	broad.mit.edu	37	19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000391711.3	-	6	1623	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	ZNF829_ENST00000520965.1_Missense_Mutation_p.R501H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	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)			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)			GAGGTCAGAGCGACTACCAAA	0.373																																						ENST00000391711.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1258-1260)cGc>cAc		zinc finger protein 829							64.0	66.0	65.0					19																	37382434		2190	4291	6481	SO:0001583	missense	374899	1	121364	29				g.chr19:37382434C>T	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.1259G>A	chr19.hg19:g.37382434C>T	ENSP00000429266:p.Arg420His	0					ZNF829_ENST00000520965.1_Missense_Mutation_p.R501H|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.R420H	NM_001037232.3	NP_001032309.2	1	2	3	2.010022	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	6	1623	-	Esophageal squamous(110;0.183)		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	1	1	hg19	c.1259G>A	CCDS42557.1	1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112918	0.20795	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.36157	1.27	3.28	2.23	0.28157	3.28	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.43646	1.37	0.24617	N	0.993694	B	0.15930	0.015	B	0.01281	0.0	T	0.19614	-1.0300	9	0.21014	T	0.42	.	9.3436	0.38096	0.0:0.8812:0.0:0.1188	.	420	Q3KNS6	ZN829_HUMAN	H	420	ENSP00000429266:R420H	ENSP00000429266:R420H	R	-	2	0	0	ZNF829	42074274	42074274	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	-1.426000	0.02443	0.912000	0.36772	0.557000	0.71058	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_001037232			65	65		306	301	1		1	0		0	0	71	0		1	0	0	0	0	1	0	65	306
ZNF829	374899	broad.mit.edu	37	19	37382697	37382697	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000391711.3	-	6	1360	c.996C>A	c.(994-996)gcC>gcA	p.A332A	ZNF829_ENST00000520965.1_Silent_p.A413A|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|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)			CACTATTAAAGGCCTTCCCAC	0.413																																						ENST00000391711.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(994-996)gcC>gcA		zinc finger protein 829							73.0	75.0	74.0					19																	37382697		2198	4300	6498	SO:0001819	synonymous_variant	374899	0	0					g.chr19:37382697G>T	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.996C>A	chr19.hg19:g.37382697G>T		0					ZNF829_ENST00000520965.1_Silent_p.A413A|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.A332A	NM_001037232.3	NP_001032309.2	1	2	3	2.010022	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	6	1360	-	Esophageal squamous(110;0.183)		Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	1	1	hg19	c.996C>A	CCDS42557.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001037232			43	43		208	203	1		1	0		0	0	44	0		1	1.434645e-01	0	0	0	4	0	43	208
ZNF568	374900	broad.mit.edu	37	19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A	rs573204075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			ACATCTCAATCTTCAGTGATC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18776	0.0		0.0	False		,,,				2504	0.001					ENST00000333987.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(13-15)tCt>tAt		zinc finger protein 568							107.0	106.0	106.0					19																	37413686		1984	4162	6146	SO:0001583	missense	374900	13	120912	40				g.chr19:37413686C>A	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.14C>A	chr19.hg19:g.37413686C>A	ENSP00000334685:p.Ser5Tyr	0					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y	p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	3	520	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	1	1	hg19	c.14C>A	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201655	0.22121	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.07327	5.72;3.46;3.2	2.92	1.88	0.25563	2.92	1.88	0.25563	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.21708	0.036	T	0.47315	-0.9127	9	0.13108	T	0.6	.	5.9183	0.19067	0.0:0.8516:0.0:0.1484	.	5	Q3ZCX4	ZN568_HUMAN	Y	5	ENSP00000407012:S5Y;ENSP00000334685:S5Y;ENSP00000389794:S5Y	ENSP00000334685:S5Y	S	+	2	0	0	ZNF568	42105526	42105526	0.086000	0.21541	0.034000	0.17996	0.270000	0.26580	1.137000	0.31479	0.798000	0.33994	-0.391000	0.06502	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-19.999840	1	0.170000	NM_198539			42	41		198	192	1		1	0		0	0	45	0		1	5.466854e-01	0	0	0	10	0	42	198
ZNF568	374900	broad.mit.edu	37	19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)			TACAACCAGGCCTCTTGTACG	0.403																																						ENST00000333987.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(130-132)Cct>Tct		zinc finger protein 568							143.0	129.0	133.0					19																	37416155		1880	4109	5989	SO:0001583	missense	374900	0	0					g.chr19:37416155C>T	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.130C>T	chr19.hg19:g.37416155C>T	ENSP00000334685:p.Pro44Ser	0					ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S	p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	4	636	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	1	1	hg19	c.130C>T	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131312	0.01756	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.00768	5.72;5.72;5.72	3.89	0.386	0.16254	3.89	0.386	0.16254	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56086	-0.8037	9	0.17369	T	0.5	.	5.9284	0.19124	0.0:0.3722:0.0:0.6278	.	44;44	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	S	44	ENSP00000407012:P44S;ENSP00000334685:P44S;ENSP00000389794:P44S	ENSP00000334685:P44S	P	+	1	0	0	ZNF568	42107995	42107995	0.704000	0.27836	0.699000	0.30290	0.796000	0.44982	0.298000	0.19120	0.022000	0.15160	-0.311000	0.09066	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_198539			35	35		162	160	1		1	0		0	0	36	0		1	4.373690e-01	0	0	0	8	0	35	162
TJP3	27134	broad.mit.edu	37	19	3744015	3744015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3744015A>G	ENST00000541714.2	+	15	2384	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGATGCCTGACCAGTTTGAA	0.522																																						ENST00000541714.2	1.000000	0.140000	4.500000e-01	2.100000e-01	0.300000	0.365087	0.300000	0.280000																										0				26						c.(1921-1923)gAc>gGc		tight junction protein 3							108.0	99.0	102.0					19																	3744015		2203	4300	6503	SO:0001583	missense	27134	0	0					g.chr19:3744015A>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1922A>G	chr19.hg19:g.3744015A>G	ENSP00000439278:p.Asp641Gly	0					TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G	p.D641G	NM_001267560.1	NP_001254489.1	1	2	3	2.010022	O95049	ZO3_HUMAN		15	2384	+			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	0	1	hg19	c.1922A>G	CCDS32873.2	0	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027520	0.75390	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10382	2.88;3.04;2.88;2.95	4.68	4.68	0.58851	4.68	4.68	0.58851	Guanylate kinase/L-type calcium channel (1);	0.356896	0.31589	N	0.007385	T	0.17323	0.0416	L	0.59436	1.845	0.54753	D	0.999989	P;B;P;P	0.52061	0.95;0.032;0.9;0.735	P;B;P;P	0.47705	0.555;0.073;0.502;0.543	T	0.00878	-1.1530	10	0.87932	D	0	.	12.1035	0.53798	1.0:0.0:0.0:0.0	.	660;674;655;641	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	641;605;655;674	ENSP00000439278:D641G;ENSP00000439991:D605G;ENSP00000371438:D655G;ENSP00000262968:D674G	ENSP00000262968:D674G	D	+	2	0	0	TJP3	3695015	3695015	1.000000	0.71417	0.867000	0.34043	0.960000	0.62799	6.024000	0.70857	1.742000	0.51746	0.533000	0.62120	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	0	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-3.298319	1	0.170000				9	9		368	359	0		1	1		0	0	84	0		9.936926e-01	9.495669e-01	0	22	0	192	0	9	368
ZNF568	374900	broad.mit.edu	37	19	37427667	37427667	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000333987.7	+	5	661	c.155A>T	c.(154-156)gAt>gTt	p.D52V	ZNF568_ENST00000415168.1_De_novo_Start_OutOfFrame|ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	52	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)			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)			ACATTTAAGGATGTGGCTGTT	0.393																																						ENST00000333987.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(154-156)gAt>gTt		zinc finger protein 568							84.0	86.0	85.0					19																	37427667		2202	4300	6502	SO:0001583	missense	374900	0	0					g.chr19:37427667A>T	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.155A>T	chr19.hg19:g.37427667A>T	ENSP00000334685:p.Asp52Val	0					ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000415168.1_De_novo_Start_OutOfFrame|ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V	p.D52V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	661	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	1	0	hg19	c.155A>T	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554855	0.65425	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.12039	2.72;2.72;2.72	4.69	4.69	0.59074	4.69	4.69	0.59074	Krueppel-associated box (4);	.	.	.	.	T	0.50205	0.1602	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64909	-0.6296	9	0.87932	D	0	.	10.4605	0.44577	1.0:0.0:0.0:0.0	.	52;52	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	V	52	ENSP00000407012:D52V;ENSP00000334685:D52V;ENSP00000389794:D52V	ENSP00000334685:D52V	D	+	2	0	0	ZNF568	42119507	42119507	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	1.959000	0.56917	0.533000	0.62120	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_198539			50	49		259	256	1		1	0		0	0	72	0		1	5.561022e-01	0	1	0	10	0	50	259
ZNF568	374900	broad.mit.edu	37	19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000333987.7	+	7	1228	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ZNF568_ENST00000415168.1_Missense_Mutation_p.E177G|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	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)			ATTAGACATGAGCGAATTCAT	0.383																																						ENST00000333987.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(721-723)gAg>gGg		zinc finger protein 568							60.0	62.0	61.0					19																	37440777		2098	4262	6360	SO:0001583	missense	374900	0	0					g.chr19:37440777A>G	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.722A>G	chr19.hg19:g.37440777A>G	ENSP00000334685:p.Glu241Gly	0					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E177G|ZNF568_ENST00000427117.1_Intron	p.E241G	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	7	1228	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	1	1	hg19	c.722A>G	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345033	0.24426	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	3.83	0.267	0.15622	3.83	0.267	0.15622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.440276	0.16878	N	0.195807	T	0.07143	0.0181	L	0.46157	1.445	0.21627	N	0.999615	B	0.06786	0.001	B	0.15484	0.013	T	0.29731	-1.0002	10	0.62326	D	0.03	.	4.1248	0.10123	0.5954:0.0:0.0947:0.3099	.	241	Q3ZCX4	ZN568_HUMAN	G	241;177	ENSP00000334685:E241G;ENSP00000394514:E177G	ENSP00000334685:E241G	E	+	2	0	0	ZNF568	42132617	42132617	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	0.280000	0.18790	-0.157000	0.11059	0.528000	0.53228	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_198539			74	73		285	276	1		1	0		0	0	83	0		1	5.842182e-01	0	0	0	9	0	74	285
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T	rs565321465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000333987.7	+	7	1230	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|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	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)			TAGACATGAGCGAATTCATGC	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.002					ENST00000333987.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(724-726)Cga>Tga		zinc finger protein 568							58.0	60.0	59.0					19																	37440779		2100	4260	6360	SO:0001587	stop_gained	374900	3	121134	35				g.chr19:37440779C>T	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.724C>T	chr19.hg19:g.37440779C>T	ENSP00000334685:p.Arg242*	0					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|ZNF568_ENST00000427117.1_Intron	p.R242*	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	7	1230	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	0	1	hg19	c.724C>T	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	2	ZNF568	42132619	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.640964	1	0.170000	NM_198539			74	73		280	271	1		1	0		0	0	82	0		1	5.926192e-01	0	0	0	9	0	74	280
TJP3	27134	broad.mit.edu	37	19	3747908	3747908	+	Silent	SNP	C	C	T	rs565405323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000382008.3_Silent_p.G827G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	813					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGAGGGCGGCGCGTACA	0.692																																						ENST00000541714.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				26						c.(2437-2439)ggC>ggT		tight junction protein 3							36.0	32.0	33.0					19																	3747908		2202	4299	6501	SO:0001819	synonymous_variant	27134	34	121284	44				g.chr19:3747908C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2439C>T	chr19.hg19:g.3747908C>T		0					TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000382008.3_Silent_p.G827G	p.G813G	NM_001267560.1	NP_001254489.1	1	2	3	2.010022	O95049	ZO3_HUMAN		19	2901	+			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	1	1	hg19	c.2439C>T	CCDS32873.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				39	39		202	198	1		1	1		0	0	53	0		1	1	0	105	0	135	0	39	202
APBA3	9546	broad.mit.edu	37	19	3753771	3753771	+	Missense_Mutation	SNP	C	C	T	rs368746082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	ENST00000316757.3	-	6	1203	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	335	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCTCCGCGTAGAATACG	0.697																																						ENST00000316757.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999582	0.990000	1.000000																										0				3						c.(1003-1005)Gcg>Acg		amyloid beta (A4) precursor protein-binding, family A, member 3		C	THR/ALA	0,4356		0,0,2178	9.0	9.0	9.0		1003	0.3	0.2	19		9	1,8525		0,1,4262	no	missense	APBA3	NM_004886.3	58	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	benign	335/576	3753771	1,12881	2178	4263	6441	SO:0001583	missense	9546	5	118828	29				g.chr19:3753771C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1003G>A	chr19.hg19:g.3753771C>T	ENSP00000315136:p.Ala335Thr	0					AC005954.3_ENST00000591962.1_RNA|AC005954.4_ENST00000586503.1_RNA	p.A335T	NM_004886.3	NP_004877.1	1	2	3	2.010022	O96018	APBA3_HUMAN		6	1203	-		Hepatocellular(1079;0.137)	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	0	1	hg19	c.1003G>A	CCDS12110.1	1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167534	0.21621	0.0	1.17E-4	ENSG00000011132	ENST00000316757	T	0.21932	1.98	3.79	0.307	0.15811	3.79	0.307	0.15811	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.376195	0.24806	N	0.035454	T	0.11879	0.0289	N	0.22421	0.69	0.34009	D	0.651232	B	0.02656	0.0	B	0.06405	0.002	T	0.07102	-1.0790	10	0.59425	D	0.04	.	6.2697	0.20947	0.5328:0.3195:0.0:0.1477	.	335	O96018	APBA3_HUMAN	T	335	ENSP00000315136:A335T	ENSP00000315136:A335T	A	-	1	0	0	APBA3	3704771	3704771	1.000000	0.71417	0.168000	0.22838	0.106000	0.19336	3.528000	0.53524	-0.388000	0.07797	-1.516000	0.00938	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.998780	1	0.170000				11	11		36	36	0		1	1		0	0	9	0		9.990064e-01	9.494306e-01	0	3	0	17	0	11	36
ZNF568	374900	broad.mit.edu	37	19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000333987.7	+	7	2425	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	ZNF568_ENST00000415168.1_Missense_Mutation_p.R576I|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	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			ACAGGTGAGAGACACCAAGTA	0.363																																						ENST00000333987.7	1.000000	0.980000	1	9.900000e-01	0.990000	0.998092	0.990000	1.000000																										0				29						c.(1918-1920)aGa>aTa		zinc finger protein 568							47.0	53.0	51.0					19																	37441974		2075	4250	6325	SO:0001583	missense	374900	0	0					g.chr19:37441974G>T	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.1919G>T	chr19.hg19:g.37441974G>T	ENSP00000334685:p.Arg640Ile	0					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R576I|ZNF568_ENST00000427117.1_Intron	p.R640I	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	1	2	3	2.010022	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	7	2425	+	Esophageal squamous(110;0.183)		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	1	1	hg19	c.1919G>T	CCDS42558.1	1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091834	0.36952	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08720	3.06;3.06	4.24	0.513	0.17000	4.24	0.513	0.17000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.449576	0.16444	N	0.214196	T	0.08582	0.0213	M	0.63169	1.94	0.41248	D	0.986695	B	0.16166	0.016	B	0.17979	0.02	T	0.14200	-1.0481	10	0.87932	D	0	.	3.3648	0.07199	0.5667:0.206:0.2274:0.0	.	640	Q3ZCX4	ZN568_HUMAN	I	640;576	ENSP00000334685:R640I;ENSP00000394514:R576I	ENSP00000334685:R640I	R	+	2	0	0	ZNF568	42133814	42133814	0.565000	0.26610	0.082000	0.20525	0.234000	0.25298	0.960000	0.29253	0.274000	0.22072	-0.423000	0.05987	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1		15	2	2	0		0	1	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_198539			35	35		269	262	1		1	0		0	0	67	0		9.988341e-01	1.100005e-01	0	0	0	5	0	35	269
ZNF420	147923	broad.mit.edu	37	19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	106					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)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGGAATATTTCAGGCAAG	0.373																																						ENST00000337995.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(316-318)taT>taG		zinc finger protein 420							106.0	104.0	105.0					19																	37618211		2203	4300	6503	SO:0001587	stop_gained	147923	0	0					g.chr19:37618211T>G	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.318T>G	chr19.hg19:g.37618211T>G	ENSP00000338770:p.Tyr106*	0					ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	p.Y106*	NM_144689.3	NP_653290.2	1	2	3	2.010022	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	533	+			B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	0	1	hg19	c.318T>G	CCDS12498.1	1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001244	0.54254	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.77	3.77	0.43336	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0673	0.36471	0.0:0.0:0.0:1.0	.	.	.	.	X	106	.	ENSP00000306102:Y106X	Y	+	3	2	2	ZNF420	42310051	42310051	0.010000	0.17322	0.138000	0.22173	0.623000	0.37688	1.531000	0.36018	1.698000	0.51180	0.459000	0.35465	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_144689			62	62		289	278	1		1	1		0	0	64	0		1	6.063876e-01	0	2	0	9	0	62	289
MRPL54	116541	broad.mit.edu	37	19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	32						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622																																						ENST00000330133.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.998399	0.990000	1.000000																										0				5						c.(94-96)Gcc>Acc		mitochondrial ribosomal protein L54							31.0	36.0	34.0					19																	3762792		2203	4299	6502	SO:0001583	missense	116541	0	0					g.chr19:3762792G>A		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.94G>A	chr19.hg19:g.3762792G>A	ENSP00000331849:p.Ala32Thr	0					APBA3_ENST00000316757.3_5'Flank	p.A32T	NM_172251.2	NP_758455.1	1	2	3	2.010022	Q6P161	RM54_HUMAN		1	131	+		Hepatocellular(1079;0.137)		Missense_Mutation	SNP	ENST00000330133.4	1	1	hg19	c.94G>A	CCDS12111.1	1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949224	0.34377	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	0.971	0.19698	5.57	0.971	0.19698	.	0.742997	0.12541	N	0.459920	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.25152	-1.0140	9	0.21014	T	0.42	-5.2624	4.7361	0.12988	0.2703:0.0:0.5624:0.1673	.	32	Q6P161	RM54_HUMAN	T	32	.	ENSP00000331849:A32T	A	+	1	0	0	MRPL54	3713792	3713792	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	0.741000	0.26202	0.393000	0.25203	-0.367000	0.07326	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	1	0	1		2	2	2	0		0	0	79		79	75	1	2.060000	-20.000000	1	0.170000	NM_172251			47	46		379	372	1		1	1		0	0	79	0		1	1	0	21	0	226	0	47	379
ZNF420	147923	broad.mit.edu	37	19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	287					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)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAGGAAGGTCTTTACTCAG	0.383																																						ENST00000337995.3	1.000000	0.470000	8.700000e-01	5.700000e-01	0.700000	0.723322	0.700000	0.680000																										0				27						c.(859-861)gTc>gCc		zinc finger protein 420							84.0	93.0	90.0					19																	37618753		2203	4300	6503	SO:0001583	missense	147923	0	0					g.chr19:37618753T>C	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.860T>C	chr19.hg19:g.37618753T>C	ENSP00000338770:p.Val287Ala	0					ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	p.V287A	NM_144689.3	NP_653290.2	1	2	3	2.010022	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	1075	+			B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	1	1	hg19	c.860T>C	CCDS12498.1	0	.	.	.	.	.	.	.	.	.	.	T	2.275	-0.366154	0.05069	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.16324	2.35;2.35	3.97	1.62	0.23740	3.97	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04275	-0.24	0.58432	D	0.99999	B	0.17268	0.021	B	0.15870	0.014	T	0.35748	-0.9776	9	0.02654	T	1	.	0.1891	0.00132	0.2272:0.1711:0.2344:0.3673	.	287	Q8TAQ5	ZN420_HUMAN	A	287	ENSP00000306102:V287A;ENSP00000338770:V287A	ENSP00000306102:V287A	V	+	2	0	0	ZNF420	42310593	42310593	0.000000	0.05858	0.998000	0.56505	0.970000	0.65996	-1.307000	0.02733	0.537000	0.28751	0.528000	0.53228	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-6.754570	1	0.170000	NM_144689			29	29		473	464	0		1	0		0	0	121	0		1	9.759617e-02	0	0	0	9	0	29	473
ZNF585A	199704	broad.mit.edu	37	19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	124					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)			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)			CTCCCCAGGATACATTTTTTG	0.383																																						ENST00000356958.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(370-372)tAt>tGt		zinc finger protein 585A							160.0	163.0	162.0					19																	37644430		2203	4300	6503	SO:0001583	missense	199704	0	0					g.chr19:37644430T>C	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.371A>G	chr19.hg19:g.37644430T>C	ENSP00000349440:p.Tyr124Cys	0					ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C	p.Y124C			1	2	3	2.010022	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	629	-			Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	1	1	hg19	c.371A>G		1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288427	0.40494	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.28255	3.29;3.29;3.29;1.62	3.53	3.53	0.40419	3.53	3.53	0.40419	.	0.468661	0.15806	U	0.243722	T	0.21022	0.0506	N	0.19112	0.55	0.30995	N	0.721005	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.87932	D	0	.	11.444	0.50112	0.0:0.0:0.0:1.0	.	124	Q6P3V2	Z585A_HUMAN	C	124;69;69;69	ENSP00000349440:Y124C;ENSP00000292841:Y69C;ENSP00000375998:Y69C;ENSP00000347724:Y69C	ENSP00000292841:Y69C	Y	-	2	0	0	ZNF585A	42336270	42336270	0.070000	0.21116	0.014000	0.15608	0.001000	0.01503	2.843000	0.48238	1.578000	0.49821	0.533000	0.62120	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	1	0	1		2	2	2	0		0	0	195		195	190	1	2.060000	-20.000000	1	0.170000	NM_152655			203	200		819	799	1		1	0		0	0	195	0		1	2.613226e-01	0	0	0	5	0	203	819
ZNF585B	92285	broad.mit.edu	37	19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TTCCCATATTCGGTACATATA	0.398																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(988-990)Gaa>Aaa		zinc finger protein 585B							177.0	162.0	167.0					19																	37677451		2203	4300	6503	SO:0001583	missense	92285	2	121412	38				g.chr19:37677451C>T	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.988G>A	chr19.hg19:g.37677451C>T	ENSP00000433773:p.Glu330Lys	0					ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	p.E330K	NM_152279.3	NP_689492.3	1	2	3	2.010022	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	1239	-			Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	1	1	hg19	c.988G>A	CCDS12500.1	1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728860	0.15507	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07327	3.2;3.2	2.93	1.87	0.25490	2.93	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.618927	0.13412	N	0.389765	T	0.05914	0.0154	N	0.20530	0.585	0.34244	D	0.677925	B;B	0.17667	0.023;0.014	B;B	0.14023	0.003;0.01	T	0.14035	-1.0487	10	0.56958	D	0.05	.	8.637	0.33955	0.0:0.8754:0.0:0.1246	.	275;330	E9PQH3;Q52M93	.;Z585B_HUMAN	K	275;330	ENSP00000436774:E275K;ENSP00000433773:E330K	ENSP00000436774:E275K	E	-	1	0	0	ZNF585B	42369291	42369291	0.000000	0.05858	0.006000	0.13384	0.279000	0.26890	-0.285000	0.08410	0.542000	0.28846	0.455000	0.32223	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	1	0	1		15	2	2	1		1	1	141		141	157	1	2.060000	-20.000000	1	0.170000	NM_152279			132	125		558	540	1		1	0		1	0	141	0		1	5.386891e-01	0	1	0	8	0	132	558
ZNF585B	92285	broad.mit.edu	37	19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	255					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)			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)			CTTGAGTGTGGACTTTTGTGT	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(763-765)tCc>tAc		zinc finger protein 585B							183.0	180.0	181.0					19																	37677675		2203	4300	6503	SO:0001583	missense	92285	0	0					g.chr19:37677675G>T	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.764C>A	chr19.hg19:g.37677675G>T	ENSP00000433773:p.Ser255Tyr	0					ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	p.S255Y	NM_152279.3	NP_689492.3	1	2	3	2.010022	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	1015	-			Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	1	1	hg19	c.764C>A	CCDS12500.1	1	.	.	.	.	.	.	.	.	.	.	G	4.716	0.133052	0.09032	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18502	2.21;2.21	2.41	2.41	0.29592	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002237	T	0.26702	0.0653	L	0.58302	1.8	0.09310	N	0.999998	P;D	0.65815	0.936;0.995	B;P	0.57911	0.374;0.829	T	0.02307	-1.1179	10	0.62326	D	0.03	.	6.5405	0.22377	0.151:0.0:0.849:0.0	.	200;255	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	200;255	ENSP00000436774:S200Y;ENSP00000433773:S255Y	ENSP00000436774:S200Y	S	-	2	0	0	ZNF585B	42369515	42369515	0.000000	0.05858	0.997000	0.53966	0.008000	0.06430	0.126000	0.15769	1.338000	0.45544	0.455000	0.32223	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	1	0	1		2	2	2	0		0	0	160		160	165	1	2.060000	-20.000000	1	0.170000	NM_152279			129	127		635	620	1		1	1		0	0	160	0		1	9.174300e-01	0	2	0	21	0	129	635
ZNF383	163087	broad.mit.edu	37	19	37734149	37734149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000590503.1_Silent_p.P337P|ZNF383_ENST00000352998.3_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418																																						ENST00000589413.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1009-1011)ccC>ccT		zinc finger protein 383							82.0	86.0	85.0					19																	37734149		2203	4300	6503	SO:0001819	synonymous_variant	163087	0	0					g.chr19:37734149C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1011C>T	chr19.hg19:g.37734149C>T		0					ZNF383_ENST00000352998.3_Silent_p.P337P|ZNF383_ENST00000590503.1_Silent_p.P337P	p.P337P			1	2	3	2.010022	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	8	1594	+			Q6X2C7	Silent	SNP	ENST00000589413.1	1	1	hg19	c.1011C>T	CCDS12501.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.399528	0	0.170000	NM_152604			82	81		384	375	1		1	1		0	0	97	0		1	9.713048e-01	0	8	0	21	0	82	384
ZNF383	163087	broad.mit.edu	37	19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I|ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	414					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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393																																						ENST00000589413.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1240-1242)aGa>aTa		zinc finger protein 383							54.0	57.0	56.0					19																	37734379		2203	4300	6503	SO:0001583	missense	163087	0	0					g.chr19:37734379G>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1241G>T	chr19.hg19:g.37734379G>T	ENSP00000464871:p.Arg414Ile	0					ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I|ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I	p.R414I			1	2	3	2.010022	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	8	1824	+			Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	1	1	hg19	c.1241G>T	CCDS12501.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211440	0.58343	.	.	ENSG00000188283	ENST00000352998	T	0.24908	1.83	3.62	2.47	0.30058	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.36608	0.0973	L	0.45137	1.4	0.40780	D	0.983167	D	0.67145	0.996	D	0.66497	0.944	T	0.21930	-1.0231	10	0.66056	D	0.02	.	10.0584	0.42259	0.0:0.0:0.7991:0.2009	.	414	Q8NA42	ZN383_HUMAN	I	414	ENSP00000340132:R414I	ENSP00000340132:R414I	R	+	2	0	0	ZNF383	42426219	42426219	0.008000	0.16893	1.000000	0.80357	0.902000	0.53008	1.458000	0.35223	2.017000	0.59298	0.563000	0.77884	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_152604			53	53		220	218	1		1	1		0	0	52	0		1	8.669289e-01	0	3	0	14	0	53	220
MATK	4145	broad.mit.edu	37	19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGAACACGGCCTCATC	0.667																																						ENST00000310132.6	1.000000	0.710000	1	9.000000e-01	0.990000	0.963779	0.990000	1.000000																										0				26						c.(550-552)gTg>gCg		megakaryocyte-associated tyrosine kinase							57.0	49.0	52.0					19																	3783843		2203	4299	6502	SO:0001583	missense	4145	0	0					g.chr19:3783843A>G	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.551T>C	chr19.hg19:g.3783843A>G	ENSP00000308734:p.Val184Ala	0					MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A	p.V184A	NM_139355.2	NP_647612.1	1	2	3	2.010022	P42679	MATK_HUMAN		6	949	-		Hepatocellular(1079;0.137)	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	1	1	hg19	c.551T>C	CCDS12114.1	1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324334	0.41197	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87966	-2.32;-2.32;-2.32	4.81	3.8	0.43715	4.81	3.8	0.43715	SH2 motif (4);	0.663300	0.14471	N	0.317543	T	0.78387	0.4275	L	0.28014	0.82	0.27380	N	0.955432	P;P;P	0.44521	0.695;0.837;0.695	B;P;B	0.47430	0.328;0.547;0.328	T	0.67337	-0.5696	10	0.06757	T	0.87	-34.2197	4.188	0.10407	0.6184:0.0:0.0937:0.2879	.	184;185;184	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	A	185;184;143	ENSP00000378485:V185A;ENSP00000308734:V184A;ENSP00000378481:V143A	ENSP00000308734:V184A	V	-	2	0	0	MATK	3734843	3734843	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.779000	0.26746	0.708000	0.31955	0.459000	0.35465	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_139355			21	21		205	203	0		1	0		0	0	42	0		9.999980e-01	1.785207e-01	0	0	0	8	0	21	205
MATK	4145	broad.mit.edu	37	19	3784220	3784220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	88	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGACGCGGTACCAGC	0.692																																						ENST00000310132.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(262-264)cgC>cgT		megakaryocyte-associated tyrosine kinase							55.0	60.0	58.0					19																	3784220		2203	4300	6503	SO:0001819	synonymous_variant	4145	0	0					g.chr19:3784220G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.264C>T	chr19.hg19:g.3784220G>A		0					MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R	p.R88R	NM_139355.2	NP_647612.1	1	2	3	2.010022	P42679	MATK_HUMAN		5	662	-		Hepatocellular(1079;0.137)	B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	1	1	hg19	c.264C>T	CCDS12114.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_139355			83	83		347	339	1		1	0		0	0	62	0		1	7.468175e-01	0	0	0	13	0	83	347
ZNF383	163087	broad.mit.edu	37	19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y|ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	427					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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378																																						ENST00000589413.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1279-1281)tGt>tAt		zinc finger protein 383							66.0	68.0	67.0					19																	37734418		2203	4300	6503	SO:0001583	missense	163087	0	0					g.chr19:37734418G>A	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1280G>A	chr19.hg19:g.37734418G>A	ENSP00000464871:p.Cys427Tyr	0					ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y	p.C427Y			1	2	3	2.010022	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	8	1863	+			Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	1	1	hg19	c.1280G>A	CCDS12501.1	1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308850	0.40895	.	.	ENSG00000188283	ENST00000352998	D	0.85861	-2.04	3.85	3.85	0.44370	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003980	D	0.94371	0.8190	H	0.96518	3.835	0.31323	N	0.685758	D	0.89917	1.0	D	0.97110	1.0	D	0.93643	0.6966	10	0.87932	D	0	.	13.6497	0.62304	0.0:0.0:1.0:0.0	.	427	Q8NA42	ZN383_HUMAN	Y	427	ENSP00000340132:C427Y	ENSP00000340132:C427Y	C	+	2	0	0	ZNF383	42426258	42426258	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.899000	0.75682	2.134000	0.65973	0.563000	0.77884	TGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	0		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_152604			73	73		297	292	1		1	0		0	0	74	0		1	8.934988e-01	0	1	0	17	0	73	297
ZNF527	84503	broad.mit.edu	37	19	37880058	37880058	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000436120.2	+	5	1214	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTAGCCGTTATGCCTTCC	0.438																																						ENST00000436120.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1105-1107)cgT>cgG		zinc finger protein 527							64.0	69.0	67.0					19																	37880058		2199	4300	6499	SO:0001819	synonymous_variant	84503	0	0					g.chr19:37880058T>G	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1107T>G	chr19.hg19:g.37880058T>G		0					ZNF527_ENST00000587349.1_Intron	p.R369R	NM_032453.1	NP_115829.1	1	2	3	2.010022	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	1214	+			B4DVL5	Silent	SNP	ENST00000436120.2	1	1	hg19	c.1107T>G	CCDS42559.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	1	0	1		2	2	2	0		0	0	60		60	56	1	2.060000	-20.000000	1	0.170000	NM_032453			54	49		267	255	1		1	1		0	0	60	0		1	6.267520e-01	0	2	0	10	0	54	267
ZNF569	148266	broad.mit.edu	37	19	37916864	37916864	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72G|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	48	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)			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)			TGAACGGATAGCCTGTCAAAG	0.438																																						ENST00000316950.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(142-144)ggC>ggA		zinc finger protein 569							258.0	250.0	253.0					19																	37916864		2203	4300	6503	SO:0001630	splice_region_variant	148266	0	0					g.chr19:37916864G>T	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.143-1C>A	chr19.hg19:g.37916864G>T		0					ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72G	p.G48G	NM_152484.2	NP_689697.2	1	2	3	2.010022	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	701	-			A8K1S2|Q15925|Q17RR6|Q96MQ2	Splice_Site	SNP	ENST00000316950.6	1	0	hg19	c.144C>A	CCDS12503.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	1	0	1		2	2	2	0		0	0	304		304	304	1	2.060000	-20.000000	1	0.170000	NM_152484	Silent		284	279		1103	1068	0		1	0		0	0	304	0		1	8.133018e-01	0	0	0	14	0	284	1103
ZNF570	148268	broad.mit.edu	37	19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	37	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)			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)			TTCTCAAAGACATCTGTACAG	0.428																																						ENST00000330173.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(109-111)Cat>Tat		zinc finger protein 570							172.0	166.0	168.0					19																	37966858		2203	4300	6503	SO:0001583	missense	148268	0	0					g.chr19:37966858C>T	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.109C>T	chr19.hg19:g.37966858C>T	ENSP00000331540:p.His37Tyr	0					ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y|ZNF570_ENST00000388801.3_5'UTR	p.H37Y	NM_144694.1	NP_653295.1	1	2	3	2.010022	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	3	638	+			A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	1	1	hg19	c.109C>T	CCDS12504.1	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787338	0.31593	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.57	2.45	0.29901	3.57	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	N	0.25825	0.765	0.19775	N	0.999951	P	0.42078	0.77	B	0.41271	0.352	T	0.51301	-0.8723	9	0.72032	D	0.01	.	10.5408	0.45031	0.0:0.7828:0.2172:0.0	.	37	Q96NI8	ZN570_HUMAN	Y	37	ENSP00000331540:H37Y	ENSP00000331540:H37Y	H	+	1	0	0	ZNF570	42658698	42658698	0.000000	0.05858	0.973000	0.42090	0.756000	0.42949	-0.054000	0.11826	1.822000	0.53115	0.467000	0.42956	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_144694			79	77		344	340	1		1	0		0	0	82	0		1	6.372299e-01	0	0	0	11	0	79	344
ZNF570	148268	broad.mit.edu	37	19	37974942	37974942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37974942G>T	ENST00000330173.1	+	5	947	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	140					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(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)			AAGGCAACCAGGTAATCAGAA	0.378																																						ENST00000330173.1	1.000000	0.130000	3.300000e-01	1.800000e-01	0.230000	0.303537	0.230000	0.230000																										0				27						c.(418-420)Ggt>Tgt		zinc finger protein 570							140.0	140.0	140.0					19																	37974942		2203	4300	6503	SO:0001583	missense	148268	0	0					g.chr19:37974942G>T	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.418G>T	chr19.hg19:g.37974942G>T	ENSP00000331540:p.Gly140Cys	0					ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C|ZNF570_ENST00000388801.3_5'UTR	p.G140C	NM_144694.1	NP_653295.1	1	2	3	2.010022	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	947	+			A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	0	1	hg19	c.418G>T	CCDS12504.1	0	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661220	0.14645	.	.	ENSG00000171827	ENST00000330173	T	0.04706	3.57	4.85	-1.08	0.09936	4.85	-1.08	0.09936	.	3.239520	0.01906	N	0.039487	T	0.05593	0.0147	L	0.52573	1.65	0.09310	N	0.999999	P	0.38167	0.621	B	0.36186	0.219	T	0.38972	-0.9636	10	0.21014	T	0.42	.	4.8816	0.13683	0.3478:0.0:0.51:0.1421	.	140	Q96NI8	ZN570_HUMAN	C	140	ENSP00000331540:G140C	ENSP00000331540:G140C	G	+	1	0	0	ZNF570	42666782	42666782	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	0.422000	0.21296	0.039000	0.15632	0.563000	0.77884	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	0	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-2.292946	0	0.170000	NM_144694			15	15		762	753	0		1	0		0	0	137	0		9.998586e-01	1.781971e-02	0	0	0	10	0	15	762
ZNF793	390927	broad.mit.edu	37	19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000587143.1	+	6	839	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468																																					Melanoma(44;400 1431 1499 19093)	ENST00000587143.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(604-606)Gca>Tca		zinc finger protein 793							34.0	35.0	35.0					19																	38028164		1879	4110	5989	SO:0001583	missense	390927	0	0					g.chr19:38028164G>T	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.604G>T	chr19.hg19:g.38028164G>T	ENSP00000468605:p.Ala202Ser	0					ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S|ZNF793_ENST00000589319.1_Intron	p.A202S			1	2	3	2.010022	Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	6	839	+			E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	1	1	hg19	c.604G>T	CCDS46062.1	1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785053	0.00628	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.02	1.7	0.24286	4.02	1.7	0.24286	.	0.400235	0.18388	N	0.142751	T	0.04318	0.0119	N	0.04768	-0.165	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.42515	-0.9447	10	0.02654	T	1	.	4.9178	0.13854	0.1195:0.2196:0.6609:0.0	.	202	E9PGN4	.	S	202;202;202;201	ENSP00000444355:A202S;ENSP00000396402:A202S	ENSP00000318811:A201S	A	+	1	0	0	ZNF793	42720004	42720004	0.000000	0.05858	0.078000	0.20375	0.254000	0.26022	-1.219000	0.02973	1.028000	0.39785	0.643000	0.83706	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_001013659			30	29		105	103	1		1	0		0	0	34	0		1	5.171515e-02	0	0	0	2	0	30	105
ZNF793	390927	broad.mit.edu	37	19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000587143.1	+	6	1228	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453																																					Melanoma(44;400 1431 1499 19093)	ENST00000587143.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999900	0.990000	1.000000																										0				3						c.(991-993)aaA>aaC		zinc finger protein 793							89.0	100.0	96.0					19																	38028553		2168	4274	6442	SO:0001583	missense	390927	0	0					g.chr19:38028553A>C	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.993A>C	chr19.hg19:g.38028553A>C	ENSP00000468605:p.Lys331Asn	0					ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N|ZNF793_ENST00000589319.1_Intron	p.K331N			1	2	3	2.010022	Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	6	1228	+			E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	1	1	hg19	c.993A>C	CCDS46062.1	1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523175	0.64747	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01084	5.36;5.36	4.13	3.11	0.35812	4.13	3.11	0.35812	.	0.000000	0.39985	N	0.001207	T	0.02848	0.0085	L	0.48174	1.505	0.19945	N	0.999944	P	0.51791	0.948	P	0.57425	0.82	T	0.31806	-0.9930	10	0.87932	D	0	.	8.5071	0.33195	0.9037:0.0:0.0963:0.0	.	331	E9PGN4	.	N	331;331;331;330	ENSP00000444355:K331N;ENSP00000396402:K331N	ENSP00000318811:K330N	K	+	3	2	2	ZNF793	42720393	42720393	0.000000	0.05858	0.825000	0.32803	0.997000	0.91878	-0.968000	0.03817	0.737000	0.32582	0.528000	0.53228	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001013659			28	28		159	156	1		1	0		0	0	46	0		1	1.730112e-01	0	0	0	5	0	28	159
ZFR2	23217	broad.mit.edu	37	19	3813948	3813948	+	Silent	SNP	G	G	A	rs375016343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T704T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507																																						ENST00000262961.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T704T(1)	kidney(1)	16						c.(2110-2112)acC>acT		zinc finger RNA binding protein 2		A		0,4146		0,0,2073	58.0	62.0	61.0		2112	-9.4	0.0	19		61	1,8409		0,1,4204	no	coding-synonymous	ZFR2	NM_015174.1		0,1,6277	AA,AG,GG		0.0119,0.0,0.0080		704/940	3813948	1,12555	2073	4205	6278	SO:0001819	synonymous_variant	23217	8	120992	39				g.chr19:3813948G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2112C>T	chr19.hg19:g.3813948G>A		0						p.T704T	NM_015174.1	NP_055989.1	1	2	3	2.010022	Q9UPR6	ZFR2_HUMAN		14	2122	-				Silent	SNP	ENST00000262961.4	1	1	hg19	c.2112C>T	CCDS45921.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.659132	1	0.170000	NM_015174			38	37		151	147	1		1			0	0	40	0		1	0	0	0	0	0	0	38	151
ZNF540	163255	broad.mit.edu	37	19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A	rs571893947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R|ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	340			G -> R. {ECO:0000269|PubMed:23033978}.		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)			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)			TAGTGTATGCGGACAACTTAC	0.353																																						ENST00000592533.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1018-1020)Gga>Aga		zinc finger protein 540							72.0	70.0	71.0					19																	38103199		2203	4300	6503	SO:0001583	missense	163255	20	121412	44				g.chr19:38103199G>A	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.1018G>A	chr19.hg19:g.38103199G>A	ENSP00000466274:p.Gly340Arg	0					ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R|ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R	p.G340R	NM_152606.4	NP_689819.1	1	2	3	2.010022	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)	5	1350	+			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	1	1	hg19	c.1018G>A	CCDS12506.1	1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662799	0.29515	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.10288	2.89	2.16	-0.686	0.11324	2.16	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.11673	0.155	0.09310	N	1	P;P	0.42757	0.789;0.684	B;B	0.36567	0.228;0.114	T	0.36456	-0.9747	9	0.51188	T	0.08	.	5.4742	0.16686	0.0:0.1763:0.5265:0.2972	.	308;340	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	340;308	ENSP00000324598:G340R	ENSP00000324598:G340R	G	+	1	0	0	ZNF540	42795039	42795039	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-4.809000	0.00183	0.211000	0.20683	0.305000	0.20034	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.807896	1	0.170000	NM_152606			53	53		244	240	1		1	0		0	0	59	0		1	3.311037e-02	0	0	0	2	0	53	244
ZNF607	84775	broad.mit.edu	37	19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTAAAAGACTTCCCGCATTT	0.428																																						ENST00000355202.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1618-1620)aAg>aCg		zinc finger protein 607							62.0	59.0	60.0					19																	38189413		2203	4300	6503	SO:0001583	missense	84775	0	0					g.chr19:38189413T>G	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.1619A>C	chr19.hg19:g.38189413T>G	ENSP00000347338:p.Lys540Thr	0					ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	p.K540T	NM_032689.4	NP_116078.4	1	2	3	2.010022	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)	5	2214	-			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	1	1	hg19	c.1619A>C	CCDS33006.1	1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225450	0.58668	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07908	3.15;3.15	2.26	2.26	0.28386	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	M	0.82923	2.615	0.32279	N	0.567864	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.32693	-0.9897	9	0.87932	D	0	.	9.1906	0.37197	0.0:0.0:0.0:1.0	.	540;539	Q96SK3;F5H141	ZN607_HUMAN;.	T	540;539	ENSP00000347338:K540T;ENSP00000438015:K539T	ENSP00000347338:K540T	K	-	2	0	0	ZNF607	42881253	42881253	0.958000	0.32768	0.213000	0.23690	0.027000	0.11550	3.507000	0.53371	1.028000	0.39785	0.459000	0.35465	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_032689			60	57		304	299	1		1	0		0	0	59	0		1	1.953682e-01	0	0	0	5	0	60	304
ZFR2	23217	broad.mit.edu	37	19	3821408	3821408	+	Missense_Mutation	SNP	G	G	A	rs61742027	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3821408G>A	ENST00000262961.4	-	10	1571	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	521							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TTCCTCATGCGCTCCTCCAGG	0.677													G|||	70	0.0139776	0.0008	0.0231	5008	,	,		13080	0.0		0.0249	False		,,,				2504	0.0286					ENST00000262961.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1561-1563)Cgc>Tgc		zinc finger RNA binding protein 2		G	CYS/ARG	30,3974		1,28,1973	14.0	16.0	16.0		1561	-6.1	0.0	19	dbSNP_129	16	261,8101		5,251,3925	yes	missense	ZFR2	NM_015174.1	180	6,279,5898	AA,AG,GG		3.1213,0.7493,2.3532	probably-damaging	521/940	3821408	291,12075	2002	4181	6183	SO:0001583	missense	23217	2711	120694	62				g.chr19:3821408G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1561C>T	chr19.hg19:g.3821408G>A	ENSP00000262961:p.Arg521Cys	0						p.R521C	NM_015174.1	NP_055989.1	1	2	3	2.010022	Q9UPR6	ZFR2_HUMAN		10	1571	-				Missense_Mutation	SNP	ENST00000262961.4	1	0	hg19	c.1561C>T	CCDS45921.1	1	26	0.011904761904761904	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	19	0.025065963060686015	G	15.56	2.870575	0.51588	0.007493	0.031213	ENSG00000105278	ENST00000262961	T	0.09163	3.01	3.03	-6.07	0.02158	3.03	-6.07	0.02158	.	0.169528	0.37437	U	0.002092	T	0.05640	0.0148	M	0.72894	2.215	0.09310	N	0.999996	D	0.76494	0.999	P	0.55871	0.786	T	0.00867	-1.1534	10	0.87932	D	0	-10.0168	7.4072	0.26998	0.1156:0.0:0.476:0.4085	rs61742027	521	Q9UPR6	ZFR2_HUMAN	C	521	ENSP00000262961:R521C	ENSP00000262961:R521C	R	-	1	0	0	ZFR2	3772408	3772408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-1.536000	0.01738	-1.478000	0.00992	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	0	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-1.318091	0	0.170000	NM_015174			38	38		119	115	1		1			0	0	24	0		1	0	0	0	0	0	0	38	119
ZNF607	84775	broad.mit.edu	37	19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATAATGAAATCTATGATGT	0.423																																						ENST00000355202.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(652-654)Ttt>Ctt		zinc finger protein 607							106.0	105.0	105.0					19																	38190380		2203	4300	6503	SO:0001583	missense	84775	0	0					g.chr19:38190380A>G	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.652T>C	chr19.hg19:g.38190380A>G	ENSP00000347338:p.Phe218Leu	0					ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	p.F218L	NM_032689.4	NP_116078.4	1	2	3	2.010022	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)	5	1247	-			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	1	1	hg19	c.652T>C	CCDS33006.1	1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355955	0.41700	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17370	2.28;2.28	1.91	0.798	0.18660	1.91	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.04355	-0.22	0.09310	N	0.999999	B;B	0.16603	0.002;0.018	B;B	0.10450	0.005;0.002	T	0.33240	-0.9876	9	0.54805	T	0.06	.	3.1323	0.06428	0.2608:0.0:0.1952:0.544	.	218;217	Q96SK3;F5H141	ZN607_HUMAN;.	L	218;217	ENSP00000347338:F218L;ENSP00000438015:F217L	ENSP00000347338:F218L	F	-	1	0	0	ZNF607	42882220	42882220	0.000000	0.05858	0.244000	0.24202	0.343000	0.28985	0.283000	0.18846	-0.034000	0.13713	0.459000	0.35465	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_032689			102	99		414	411	1		1	0		0	0	124	0		1	0	0	0	0	1	0	102	414
ZNF573	126231	broad.mit.edu	37	19	38229915	38229915	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000590414.2	-	4	1497	c.1476T>C	c.(1474-1476)caT>caC	p.H492H	ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000339503.4_Silent_p.H434H|ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000536220.1_Silent_p.H404H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TCTCACCAGTATGAGTTTTCC	0.378																																						ENST00000590414.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1474-1476)caT>caC		zinc finger protein 573							80.0	79.0	80.0					19																	38229915		2203	4300	6503	SO:0001819	synonymous_variant	126231	0	0					g.chr19:38229915A>G	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.1476T>C	chr19.hg19:g.38229915A>G		0					ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000339503.4_Silent_p.H434H|ZNF573_ENST00000536220.1_Silent_p.H404H	p.H492H			1	2	3	2.010022	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)	4	1497	-			B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	1	1	hg19	c.1476T>C	CCDS59381.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	1	0	0		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_152360			85	83		374	371	1		1			0	0	97	0		1	0	0	0	0	0	0	85	374
SIPA1L3	23094	broad.mit.edu	37	19	38572967	38572967	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	254					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGGGGCGGCGGCGGAGCCA	0.697																																						ENST00000222345.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(760-762)ggC>ggT		signal-induced proliferation-associated 1 like 3							10.0	12.0	11.0					19																	38572967		1890	3777	5667	SO:0001819	synonymous_variant	23094	2	116556	25				g.chr19:38572967C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.762C>T	chr19.hg19:g.38572967C>T		0						p.G254G	NM_015073.1	NP_055888.1	1	2	3	2.010022	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	3	1271	+			Q2TV87	Silent	SNP	ENST00000222345.6	1	1	hg19	c.762C>T	CCDS33007.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	XM_032278			48	47		134	133	0		1	1		0	0	26	0		1	5.909813e-01	0	2	0	5	0	48	134
SIPA1L3	23094	broad.mit.edu	37	19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	717	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597																																						ENST00000222345.6	1.000000	0.310000	6.200000e-01	3.900000e-01	0.480000	0.527894	0.480000	0.470000																										0				59						c.(2149-2151)cAc>cGc		signal-induced proliferation-associated 1 like 3							187.0	146.0	160.0					19																	38600883		2203	4300	6503	SO:0001583	missense	23094	0	0					g.chr19:38600883A>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2150A>G	chr19.hg19:g.38600883A>G	ENSP00000222345:p.His717Arg	0					CTC-450M9.1_ENST00000599092.1_RNA	p.H717R	NM_015073.1	NP_055888.1	1	2	3	2.010022	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	8	2659	+			Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	1	1	hg19	c.2150A>G	CCDS33007.1	0	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329061	0.81690	.	.	ENSG00000105738	ENST00000222345	D	0.97138	-4.26	5.22	5.22	0.72569	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.98542	4.26	0.58432	D	0.999996	P	0.52061	0.95	D	0.71870	0.975	D	0.98988	1.0807	10	0.87932	D	0	-37.7634	14.0811	0.64922	1.0:0.0:0.0:0.0	.	717	O60292	SI1L3_HUMAN	R	717	ENSP00000222345:H717R	ENSP00000222345:H717R	H	+	2	0	0	SIPA1L3	43292723	43292723	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-4.352039	1	0.170000	XM_032278			26	26		626	607	0		1	1		0	0	126	0		9.999999e-01	3.065938e-01	0	2	0	25	0	26	626
SIPA1L3	23094	broad.mit.edu	37	19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	828	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557																																						ENST00000222345.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2482-2484)Ctg>Atg		signal-induced proliferation-associated 1 like 3							90.0	77.0	81.0					19																	38610136		2203	4300	6503	SO:0001583	missense	23094	0	0					g.chr19:38610136C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2482C>A	chr19.hg19:g.38610136C>A	ENSP00000222345:p.Leu828Met	0						p.L828M	NM_015073.1	NP_055888.1	1	2	3	2.010022	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	9	2991	+			Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	1	1	hg19	c.2482C>A	CCDS33007.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951204	0.73787	.	.	ENSG00000105738	ENST00000222345	D	0.95949	-3.86	5.75	4.72	0.59763	5.75	4.72	0.59763	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000001	D	0.96861	0.8975	M	0.72353	2.195	0.47341	D	0.999397	D	0.56746	0.977	D	0.70935	0.971	D	0.96927	0.9678	10	0.87932	D	0	-22.4447	10.6047	0.45388	0.0:0.8459:0.0:0.1541	.	828	O60292	SI1L3_HUMAN	M	828	ENSP00000222345:L828M	ENSP00000222345:L828M	L	+	1	2	2	SIPA1L3	43301976	43301976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.356000	0.34079	1.451000	0.47736	-0.136000	0.14681	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	0		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	XM_032278			81	80		249	242	1		1	1		0	0	62	0		1	9.999987e-01	0	22	0	42	0	81	249
SIPA1L3	23094	broad.mit.edu	37	19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	857					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGAAAAGACAAAAGCACGG	0.577																																						ENST00000222345.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2569-2571)aCa>aTa		signal-induced proliferation-associated 1 like 3							64.0	65.0	65.0					19																	38610224		2203	4300	6503	SO:0001583	missense	23094	1	121412	30				g.chr19:38610224C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2570C>T	chr19.hg19:g.38610224C>T	ENSP00000222345:p.Thr857Ile	0						p.T857I	NM_015073.1	NP_055888.1	1	2	3	2.010022	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	9	3079	+			Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	1	1	hg19	c.2570C>T	CCDS33007.1	1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898448	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.46819	0.86	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.236566	0.43747	D	0.000533	T	0.36193	0.0958	N	0.24115	0.695	0.38592	D	0.950444	B	0.28998	0.23	B	0.24394	0.053	T	0.16988	-1.0384	10	0.27082	T	0.32	-19.2917	18.7237	0.91705	0.0:1.0:0.0:0.0	.	857	O60292	SI1L3_HUMAN	I	857	ENSP00000222345:T857I	ENSP00000222345:T857I	T	+	2	0	0	SIPA1L3	43302064	43302064	0.031000	0.19500	0.987000	0.45799	0.937000	0.57800	1.188000	0.32102	2.725000	0.93324	0.655000	0.94253	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	XM_032278			58	57		264	258	1		1	1		0	0	58	0		1	9.999744e-01	0	22	0	52	0	58	264
SIPA1L3	23094	broad.mit.edu	37	19	38682946	38682946	+	Missense_Mutation	SNP	C	C	T	rs150063338	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38682946C>T	ENST00000222345.6	+	17	5101	c.4592C>T	c.(4591-4593)aCg>aTg	p.T1531M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1531					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGAGAGACACGGGAGTACGT	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		18987	0.005		0.0	False		,,,				2504	0.0					ENST00000222345.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				59						c.(4591-4593)aCg>aTg		signal-induced proliferation-associated 1 like 3							63.0	54.0	57.0					19																	38682946		2203	4300	6503	SO:0001583	missense	23094	27	121406	42				g.chr19:38682946C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4592C>T	chr19.hg19:g.38682946C>T	ENSP00000222345:p.Thr1531Met	0						p.T1531M	NM_015073.1	NP_055888.1	1	2	3	2.010022	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	17	5101	+			Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	1	0	hg19	c.4592C>T	CCDS33007.1	1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	13.70	2.314557	0.40996	.	.	ENSG00000105738	ENST00000222345	T	0.31247	1.5	5.46	3.32	0.38043	5.46	3.32	0.38043	.	1.492440	0.04489	N	0.379220	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	P	0.45672	0.864	B	0.41332	0.354	T	0.17653	-1.0362	10	0.45353	T	0.12	-0.2811	7.5496	0.27788	0.0:0.7354:0.0:0.2646	.	1531	O60292	SI1L3_HUMAN	M	1531	ENSP00000222345:T1531M	ENSP00000222345:T1531M	T	+	2	0	0	SIPA1L3	43374786	43374786	0.001000	0.12720	0.003000	0.11579	0.231000	0.25187	1.134000	0.31442	0.657000	0.30906	0.455000	0.32223	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	XM_032278			31	31		170	168	1		1	1		0	0	40	0		1	9.971687e-01	0	17	0	36	0	31	170
DPF1	8193	broad.mit.edu	37	19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000420980.2	-	8	761	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000416611.1_Missense_Mutation_p.K263N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	245					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCGGGCGCCTTCTTGGCTG	0.627																																						ENST00000420980.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(733-735)aaG>aaT		D4, zinc and double PHD fingers family 1							57.0	57.0	57.0					19																	38706892		2203	4300	6503	SO:0001583	missense	8193	0	0					g.chr19:38706892C>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.735G>T	chr19.hg19:g.38706892C>A	ENSP00000397354:p.Lys245Asn	0					DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000416611.1_Missense_Mutation_p.K263N	p.K245N	NM_004647.2	NP_004638.2	1	2	3	2.010022	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	8	761	-	all_cancers(60;1.24e-06)		B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	1	1	hg19	c.735G>T	CCDS33008.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060	.|D;D;D;D;D;T	.|0.91124	.|-2.24;-2.79;-2.29;-2.79;-2.76;2.25	4.39|4.39	3.35|3.35	0.38373|0.38373	4.39|4.39	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93374|0.93374	0.7887|0.7887	M|M	0.74467|0.74467	2.265|2.265	0.47245|0.47245	D|D	0.999364|0.999364	.|D;D;D;D;D	.|0.89917	.|0.983;1.0;1.0;1.0;0.968	.|P;D;D;D;P	.|0.97110	.|0.725;0.999;0.996;1.0;0.694	D|D	0.92151|0.92151	0.5728|0.5728	5|10	.|0.66056	.|D	.|0.02	-17.6035|-17.6035	5.7908|5.7908	0.18359|0.18359	0.0:0.6829:0.0:0.3171|0.0:0.6829:0.0:0.3171	.|.	.|263;262;289;289;245	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	C|N	282|245;289;207;263;207;263;207	.|ENSP00000397354:K245N;ENSP00000412098:K207N;ENSP00000390223:K263N;ENSP00000391884:K207N;ENSP00000411569:K263N;ENSP00000416347:K207N	.|ENSP00000412098:K207N	G|K	-|-	1|3	0|2	0|2	DPF1|DPF1	43398732|43398732	43398732|43398732	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.917000|0.917000	0.54804|0.54804	2.245000|2.245000	0.43133|0.43133	1.163000|1.163000	0.42636|0.42636	0.561000|0.561000	0.74099|0.74099	GGC|AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-4.531843	1	0.170000				64	64		206	202	1		1	1		0	0	33	0		1	8.757701e-01	0	9	0	5	0	64	206
DPF1	8193	broad.mit.edu	37	19	38709239	38709239	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000420980.2	-	5	597	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000416611.1_Silent_p.R165R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000456296.1_Silent_p.R165R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	191					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTTCCTCCTGGGAATGTCA	0.537																																						ENST00000420980.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(571-573)Agg>Cgg		D4, zinc and double PHD fingers family 1							182.0	122.0	142.0					19																	38709239		2203	4300	6503	SO:0001819	synonymous_variant	8193	0	0					g.chr19:38709239T>G	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.571A>C	chr19.hg19:g.38709239T>G		0					DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000416611.1_Silent_p.R165R	p.R191R	NM_004647.2	NP_004638.2	1	2	3	2.010022	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)	5	597	-	all_cancers(60;1.24e-06)		B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	1	1	hg19	c.571A>C	CCDS33008.2	1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266022	0.23136	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.26	2.11	0.27256	3.26	2.11	0.27256	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	-5.6764	8.3732	0.32427	0.0:0.0:0.2754:0.7246	.	.	.	.	P	183	.	.	Q	-	2	0	0	DPF1	43401079	43401079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.478000	0.48253	0.383000	0.25322	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-19.999990	1	0.170000				52	52		286	276	1		1	1		0	0	89	0		1	1.767475e-01	0	2	0	3	0	52	286
KCNK6	9424	broad.mit.edu	37	19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	250					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632																																						ENST00000263372.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997818	0.990000	1.000000																										0				17						c.(748-750)Gtg>Ttg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						67.0	49.0	55.0					19																	38817849		2203	4300	6503	SO:0001583	missense	9424	0	0					g.chr19:38817849G>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.748G>T	chr19.hg19:g.38817849G>T	ENSP00000263372:p.Val250Leu	0						p.V250L	NM_004823.1	NP_004814.1	1	2	3	2.010022	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	3	855	+	all_cancers(60;5.83e-07)		Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	1	1	hg19	c.748G>T	CCDS12513.1	1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223951	0.09863	.	.	ENSG00000099337	ENST00000263372	T	0.27557	1.66	5.44	2.1	0.27182	5.44	2.1	0.27182	Ion transport 2 (1);	0.377738	0.29868	N	0.010997	T	0.12646	0.0307	N	0.12961	0.28	0.31977	N	0.606432	B	0.12013	0.005	B	0.16289	0.015	T	0.28586	-1.0039	10	0.07644	T	0.81	.	4.5908	0.12306	0.2784:0.16:0.5616:0.0	.	250	Q9Y257	KCNK6_HUMAN	L	250	ENSP00000263372:V250L	ENSP00000263372:V250L	V	+	1	0	0	KCNK6	43509689	43509689	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.570000	0.23653	0.246000	0.21394	0.555000	0.69702	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_004823			39	39		310	306	1		1	1		0	0	52	0		1	9.999173e-01	0	30	0	84	0	39	310
KCNK6	9424	broad.mit.edu	37	19	38817902	38817902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	267					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647																																						ENST00000263372.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(799-801)gaG>gaA		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						71.0	60.0	63.0					19																	38817902		2203	4300	6503	SO:0001819	synonymous_variant	9424	0	0					g.chr19:38817902G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.801G>A	chr19.hg19:g.38817902G>A		0						p.E267E	NM_004823.1	NP_004814.1	1	2	3	2.010022	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	3	908	+	all_cancers(60;5.83e-07)		Q9HB47	Silent	SNP	ENST00000263372.3	1	1	hg19	c.801G>A	CCDS12513.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_004823			68	66		338	335	1		1	1		0	0	68	0		1	1	0	38	0	87	0	68	338
KCNK6	9424	broad.mit.edu	37	19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T	rs549369957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	296					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667																																						ENST00000263372.3	1.000000	0.180000	5.200000e-01	2.600000e-01	0.360000	0.419280	0.360000	0.340000																										0				17						c.(886-888)tCg>tTg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						56.0	55.0	55.0					19																	38817988		2203	4300	6503	SO:0001583	missense	9424	15	121374	41				g.chr19:38817988C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.887C>T	chr19.hg19:g.38817988C>T	ENSP00000263372:p.Ser296Leu	0						p.S296L	NM_004823.1	NP_004814.1	1	2	3	2.010022	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	3	994	+	all_cancers(60;5.83e-07)		Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	0	1	hg19	c.887C>T	CCDS12513.1	0	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852002	0.32699	.	.	ENSG00000099337	ENST00000263372	T	0.22134	1.97	5.36	-0.937	0.10415	5.36	-0.937	0.10415	.	0.876074	0.10064	N	0.720521	T	0.07548	0.0190	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36187	-0.9758	10	0.28530	T	0.3	.	4.6572	0.12624	0.1452:0.4607:0.0:0.3941	.	296	Q9Y257	KCNK6_HUMAN	L	296	ENSP00000263372:S296L	ENSP00000263372:S296L	S	+	2	0	0	KCNK6	43509828	43509828	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.128000	0.15810	0.139000	0.18822	-0.219000	0.12488	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	0	0	0		2	2	2	0		0	0	67		67	65	1	2.060000	-3.217166	1	0.170000	NM_004823			11	9		369	365	1		1	1		0	0	67	0		9.982401e-01	9.058937e-01	0	13	0	128	0	11	369
CATSPERG	57828	broad.mit.edu	37	19	38852347	38852347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38852347G>A	ENST00000409235.3	+	17	2055	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	647					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGCCTGCGGAGCCTGCCCAGT	0.672																																						ENST00000409235.3	1.000000	0.150000	6.600000e-01	2.500000e-01	0.400000	0.463681	0.400000	0.350000																										0				40						c.(1939-1941)aGc>aAc		catsper channel auxiliary subunit gamma							35.0	37.0	36.0					19																	38852347		2203	4300	6503	SO:0001583	missense	57828	0	0					g.chr19:38852347G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1940G>A	chr19.hg19:g.38852347G>A	ENSP00000386962:p.Ser647Asn	0					AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N	p.S647N	NM_021185.4	NP_067008.3	1	2	3	2.010022	Q6ZRH7	CTSRG_HUMAN		17	2055	+			A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	0	1	hg19	c.1940G>A	CCDS12514.2	0	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726067	0.48833	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.67	3.63	0.41609	4.67	3.63	0.41609	.	1.045340	0.07568	N	0.918079	T	0.16685	0.0401	N	0.08118	0	0.31922	N	0.613368	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	10	0.30078	T	0.28	-8.334	6.9527	0.24554	0.8913:0.0:0.1087:0.0	.	647;607	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	607;647;647	ENSP00000387057:S607N;ENSP00000386962:S647N;ENSP00000386950:S647N	ENSP00000386962:S647N	S	+	2	0	0	CATSPERG	43544187	43544187	0.102000	0.21896	0.081000	0.20488	0.025000	0.11179	2.917000	0.48821	0.643000	0.30638	-0.628000	0.03992	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	0	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-7.479151	1	0.170000	NM_021185			5	5		159	157	0		1	0		0	0	30	0		9.364936e-01	1.515042e-03	0	0	0	2	0	5	159
CATSPERG	57828	broad.mit.edu	37	19	38855715	38855715	+	Silent	SNP	C	C	T	rs199784174	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	857					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGGGTTCATCCGGGCTCTGCT	0.622													C|||	22	0.00439297	0.0	0.0	5008	,	,		13665	0.0		0.0	False		,,,				2504	0.0225					ENST00000409235.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2569-2571)tcC>tcT		catsper channel auxiliary subunit gamma							79.0	81.0	81.0					19																	38855715		2203	4300	6503	SO:0001819	synonymous_variant	57828	264	121412	55				g.chr19:38855715C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2571C>T	chr19.hg19:g.38855715C>T		0					AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	p.S857S	NM_021185.4	NP_067008.3	1	2	3	2.010022	Q6ZRH7	CTSRG_HUMAN		22	2686	+			A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	1	1	hg19	c.2571C>T	CCDS12514.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-2.776647	1	0.170000	NM_021185			89	87		398	388	1		1	0		0	0	110	0		1	8.973263e-02	0	1	0	2	0	89	398
CATSPERG	57828	broad.mit.edu	37	19	38858390	38858390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	968					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGGACGAAATCTACCGCTTCA	0.592																																						ENST00000409235.3	1.000000	0.400000	6.200000e-01	4.600000e-01	0.520000	0.565506	0.520000	0.520000																										0				40						c.(2902-2904)atC>atA		catsper channel auxiliary subunit gamma							216.0	226.0	223.0					19																	38858390		2203	4300	6503	SO:0001819	synonymous_variant	57828	0	0					g.chr19:38858390C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2904C>A	chr19.hg19:g.38858390C>A		0					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	p.I968I	NM_021185.4	NP_067008.3	1	2	3	2.010022	Q6ZRH7	CTSRG_HUMAN		25	3019	+			A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	1	1	hg19	c.2904C>A	CCDS12514.2	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	1	0	1		2	2	2	0		0	0	286		286	283	1	2.060000	-5.756327	1	0.170000	NM_021185			66	66		1435	1393	0		1			0	0	286	0		1	0	0	0	0	0	0	66	1435
RYR1	6261	broad.mit.edu	37	19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000359596.3	+	2	147	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000355481.4_Missense_Mutation_p.E49D|RYR1_ENST00000360985.3_Missense_Mutation_p.E49D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	49					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)			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)	GCTTCCTGGAGCCCACTAGCA	0.642																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999709	0.990000	1.000000																										0				285						c.(145-147)gaG>gaT		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						17.0	18.0	18.0					19																	38931486		2196	4285	6481	SO:0001583	missense	6261	0	0					g.chr19:38931486G>T	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.147G>T	chr19.hg19:g.38931486G>T	ENSP00000352608:p.Glu49Asp	0					RYR1_ENST00000360985.3_Missense_Mutation_p.E49D|RYR1_ENST00000355481.4_Missense_Mutation_p.E49D	p.E49D			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	2	147	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	0	1	hg19	c.147G>T	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966575	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98602	-5.02;-5.02;-5.02	4.81	3.77	0.43336	4.81	3.77	0.43336	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98541	0.9513	M	0.83953	2.67	0.34988	D	0.754759	D;D	0.76494	0.995;0.999	D;D	0.75020	0.975;0.985	D	0.99942	1.1427	10	0.87932	D	0	.	6.8359	0.23935	0.2168:0.0:0.7832:0.0	.	49;49	P21817-2;P21817	.;RYR1_HUMAN	D	49	ENSP00000352608:E49D;ENSP00000347667:E49D;ENSP00000354254:E49D	ENSP00000347667:E49D	E	+	3	2	2	RYR1	43623326	43623326	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.815000	0.27253	0.991000	0.38814	0.556000	0.70494	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	12		12	10	1	2.060000	-20.000000	1	0.170000				20	20		106	103	1		1			0	0	12	0		9.999966e-01	0	0	0	0	0	0	20	106
RYR1	6261	broad.mit.edu	37	19	38937111	38937111	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000359596.3	+	8	631		c.e8-1		RYR1_ENST00000355481.4_Splice_Site|RYR1_ENST00000360985.3_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						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)			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)	CTCCTCTCCAGGCTTCGTGAC	0.602																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.e8-1		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						68.0	57.0	61.0					19																	38937111		2203	4300	6503	SO:0001630	splice_region_variant	6261	0	0					g.chr19:38937111G>T	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.632-1G>T	chr19.hg19:g.38937111G>T		0					RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000355481.4_Splice_Site				1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	8	631	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	1	1	hg19		CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041738	0.55003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RYR1	43628951	43628951	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	7.361000	0.79497	2.627000	0.88993	0.563000	0.77884	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-3.682994	1	0.170000		Intron		47	46		178	171	1		1			0	0	39	0		1	0	0	0	0	0	0	47	178
RYR1	6261	broad.mit.edu	37	19	38956988	38956988	+	Missense_Mutation	SNP	G	G	A	rs374776563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	ENST00000359596.3	+	24	3128	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1043H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1043	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> C (in MHS1). {ECO:0000269|PubMed:19191329}.|R -> H (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		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)			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)	CAGGCCGTGCGCACCCTCCTG	0.672																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				285						c.(3127-3129)cGc>cAc		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	G	HIS/ARG,HIS/ARG	0,4376		0,0,2188	25.0	24.0	24.0		3128,3128	2.9	1.0	19		24	3,8569		0,3,4283	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,3,6471	AA,AG,GG		0.035,0.0,0.0232	probably-damaging,probably-damaging	1043/5039,1043/5034	38956988	3,12945	2188	4286	6474	SO:0001583	missense	6261	5	120470	29				g.chr19:38956988G>A	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.3128G>A	chr19.hg19:g.38956988G>A	ENSP00000352608:p.Arg1043His	0					RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1043H	p.R1043H			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	24	3128	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.3128G>A	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.491232	0.64074	0.0	3.5E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92595	-3.07;-3.07;-3.07	2.94	2.94	0.34122	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.96056	0.8715	M	0.86651	2.83	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.79784	0.978;0.993	D	0.96693	0.9512	10	0.72032	D	0.01	.	14.7726	0.69691	0.0:0.0:1.0:0.0	.	1043;1043	P21817-2;P21817	.;RYR1_HUMAN	H	1043	ENSP00000352608:R1043H;ENSP00000347667:R1043H;ENSP00000354254:R1043H	ENSP00000347667:R1043H	R	+	2	0	0	RYR1	43648828	43648828	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.451000	0.97610	1.988000	0.58038	0.444000	0.29173	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000				15	15		53	53	0		1			0	0	14	0		9.999354e-01	0	0	0	0	0	0	15	53
RYR1	6261	broad.mit.edu	37	19	38959659	38959659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000359596.3	+	26	3435	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000355481.4_Silent_p.G1145G|RYR1_ENST00000360985.3_Silent_p.G1145G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1145	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)			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)	GGCAGCCGGGCGATGTCGTTG	0.582																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(3433-3435)ggC>ggT		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						90.0	81.0	84.0					19																	38959659		2203	4300	6503	SO:0001819	synonymous_variant	6261	2	121412	33				g.chr19:38959659C>T	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.3435C>T	chr19.hg19:g.38959659C>T		0					RYR1_ENST00000360985.3_Silent_p.G1145G|RYR1_ENST00000355481.4_Silent_p.G1145G	p.G1145G			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	26	3435	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	1	1	hg19	c.3435C>T	CCDS33011.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.503331	1	0.170000				69	68		293	281	1		1	0		0	0	63	0		1	0	0	1	0	0	0	69	293
RYR1	6261	broad.mit.edu	37	19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000359596.3	+	34	5119	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1707C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1707	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)	AGGCCCACTGCGCGCAGGCTA	0.652																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(5119-5121)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						59.0	59.0	59.0					19																	38976414		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:38976414C>T	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.5119C>T	chr19.hg19:g.38976414C>T	ENSP00000352608:p.Arg1707Cys	0					RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1707C	p.R1707C			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	34	5119	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.5119C>T	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987909	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74842	-0.88;-0.88;-0.88	3.98	2.87	0.33458	3.98	2.87	0.33458	.	0.000000	0.64402	U	0.000007	D	0.86590	0.5969	M	0.87180	2.865	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	13.7048	0.62631	0.165:0.835:0.0:0.0	.	1707;1707	P21817-2;P21817	.;RYR1_HUMAN	C	1707	ENSP00000352608:R1707C;ENSP00000347667:R1707C;ENSP00000354254:R1707C	ENSP00000347667:R1707C	R	+	1	0	0	RYR1	43668254	43668254	1.000000	0.71417	0.935000	0.37517	0.263000	0.26337	4.695000	0.61767	2.048000	0.60808	0.585000	0.79938	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	1		19	2	2	1		1	1	101		101	100	1	2.060000	-20.000000	1	0.170000				104	104		451	446	1		1			1	0	101	0		1	0	0	0	0	0	0	104	451
RYR1	6261	broad.mit.edu	37	19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000359596.3	+	48	7793	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000355481.4_Missense_Mutation_p.A2598V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2598	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)	CTCACCAAGGCGCAGCGTGAC	0.672																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(7792-7794)gCg>gTg		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						69.0	56.0	61.0					19																	38993325		2203	4300	6503	SO:0001583	missense	6261	1	121404	37				g.chr19:38993325C>T	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.7793C>T	chr19.hg19:g.38993325C>T	ENSP00000352608:p.Ala2598Val	0					RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V|RYR1_ENST00000355481.4_Missense_Mutation_p.A2598V	p.A2598V			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	48	7793	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.7793C>T	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823087	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93307	-3.2;-3.2;-3.2	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000003	D	0.96306	0.8795	M	0.79475	2.455	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	D	0.96802	0.9590	10	0.72032	D	0.01	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	2598;2598	P21817-2;P21817	.;RYR1_HUMAN	V	2598	ENSP00000352608:A2598V;ENSP00000347667:A2598V;ENSP00000354254:A2598V	ENSP00000347667:A2598V	A	+	2	0	0	RYR1	43685165	43685165	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.500000	0.81588	2.265000	0.75225	0.467000	0.42956	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-20.000000	1	0.170000				43	43		199	192	0		1			0	0	38	0		1	0	0	0	0	0	0	43	199
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000359596.3	+	55	8581	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)	TCAGCCCCCCGACCTTAGTGC	0.607																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(8581-8583)Gac>Aac		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		8581,8581	3.5	1.0	19	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2861/5039,2861/5034	38996982	1,13005	2203	4300	6503	SO:0001583	missense	6261	1	121412	33				g.chr19:38996982G>A	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.8581G>A	chr19.hg19:g.38996982G>A	ENSP00000352608:p.Asp2861Asn	0					RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N|RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N	p.D2861N			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	55	8581	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.8581G>A	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	0	RYR1	43688822	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.329933	1	0.170000				62	62		325	317	1		1	0		0	0	82	0		1	0	0	1	0	0	0	62	325
RYR1	6261	broad.mit.edu	37	19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A	rs370080658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000359596.3	+	69	10436	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000355481.4_Missense_Mutation_p.A3479D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3479					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)			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)	AGCAAAATGGCTAAGGTCGGG	0.567																																						ENST00000359596.3	1.000000	0.380000	6.900000e-01	4.600000e-01	0.550000	0.591565	0.550000	0.540000																										0				285						c.(10435-10437)gCt>gAt		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						130.0	111.0	118.0					19																	39013945		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:39013945C>A	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.10436C>A	chr19.hg19:g.39013945C>A	ENSP00000352608:p.Ala3479Asp	0					RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D|RYR1_ENST00000355481.4_Missense_Mutation_p.A3479D	p.A3479D			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	69	10436	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.10436C>A	CCDS33011.1	0	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301591	0.10678	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.14;-4.16	2.68	2.68	0.31781	2.68	2.68	0.31781	.	0.330102	0.27147	U	0.020710	D	0.91327	0.7265	L	0.34521	1.04	0.37387	D	0.912296	P;P;B	0.36535	0.557;0.557;0.075	B;B;B	0.25140	0.058;0.058;0.023	D	0.92745	0.6211	10	0.62326	D	0.03	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	3479;3479;3479	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3479;3479;3479;399	ENSP00000352608:A3479D;ENSP00000347667:A3479D;ENSP00000354254:A3479D	ENSP00000347667:A3479D	A	+	2	0	0	RYR1	43705785	43705785	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.622000	0.61240	1.524000	0.49035	0.313000	0.20887	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	1		21	2	2	1		1	1	109		109	109	1	2.060000	-4.833511	1	0.170000				32	31		666	654	0		1			1	0	109	0		9.463245e-01	0	0	0	0	0	0	32	666
RYR1	6261	broad.mit.edu	37	19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000359596.3	+	84	11668	c.11668C>A	c.(11668-11670)Ctc>Atc	p.L3890I	RYR1_ENST00000355481.4_Missense_Mutation_p.L3885I|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3890					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)			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)	CCTACAATTGCTCTGTGAGGG	0.562																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(11668-11670)Ctc>Atc		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						138.0	112.0	121.0					19																	39028579		2203	4300	6503	SO:0001583	missense	6261	7	121412	40				g.chr19:39028579C>A	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.11668C>A	chr19.hg19:g.39028579C>A	ENSP00000352608:p.Leu3890Ile	0					AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|RYR1_ENST00000355481.4_Missense_Mutation_p.L3885I	p.L3890I			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	84	11668	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.11668C>A	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258412	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70516	-0.49;-0.49;-0.49	4.85	3.8	0.43715	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000016	D	0.83004	0.5160	M	0.80616	2.505	0.46874	D	0.999236	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.915;0.915;0.949	D	0.85657	0.1286	10	0.62326	D	0.03	.	14.3277	0.66530	0.0:0.8499:0.1501:0.0	.	3885;3885;3890	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3890;3885;3885	ENSP00000352608:L3890I;ENSP00000347667:L3885I;ENSP00000354254:L3885I	ENSP00000347667:L3885I	L	+	1	0	0	RYR1	43720419	43720419	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	5.564000	0.67359	1.386000	0.46466	0.546000	0.68486	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				79	78		452	444	1		1			0	0	111	0		1	0	0	0	0	0	0	79	452
RYR1	6261	broad.mit.edu	37	19	39038920	39038920	+	Missense_Mutation	SNP	G	G	A	rs368835421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39038920G>A	ENST00000359596.3	+	89	12142	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	RYR1_ENST00000355481.4_Missense_Mutation_p.V4043M|RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4048					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)			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)	GGACATGCTCGTGGAATCCTC	0.567																																						ENST00000359596.3	1.000000	0.170000	5.100000e-01	2.500000e-01	0.350000	0.410692	0.350000	0.330000																										0				285						c.(12142-12144)Gtg>Atg		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						181.0	129.0	147.0					19																	39038920		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:39038920G>A	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.12142G>A	chr19.hg19:g.39038920G>A	ENSP00000352608:p.Val4048Met	0					RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M|RYR1_ENST00000355481.4_Missense_Mutation_p.V4043M	p.V4048M			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	89	12142	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	0	1	hg19	c.12142G>A	CCDS33011.1	0	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696920	0.48202	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.38	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.000000	0.64402	U	0.000014	D	0.98362	0.9456	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.99372	1.0920	10	0.87932	D	0	.	17.3882	0.87422	0.0:0.0:1.0:0.0	.	4043;4043;4048	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	M	4048;4043;4043	ENSP00000352608:V4048M;ENSP00000347667:V4043M;ENSP00000354254:V4043M	ENSP00000347667:V4043M	V	+	1	0	0	RYR1	43730760	43730760	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	9.520000	0.98027	2.518000	0.84900	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.628693	1	0.170000				10	10		347	343	0		1	0		0	0	75	0		9.968042e-01	1.021356e-03	0	0	0	2	0	10	347
RYR1	6261	broad.mit.edu	37	19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000359596.3	+	93	13592	c.13592C>A	c.(13591-13593)cCt>cAt	p.P4531H	RYR1_ENST00000355481.4_Missense_Mutation_p.P4526H|RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4531	Pro-rich.				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)			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)	CCCTCACCCCCTCCAAAGAAG	0.587																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(13591-13593)cCt>cAt		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						71.0	74.0	73.0					19																	39058490		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:39058490C>A	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.13592C>A	chr19.hg19:g.39058490C>A	ENSP00000352608:p.Pro4531His	0					RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H|RYR1_ENST00000355481.4_Missense_Mutation_p.P4526H	p.P4531H			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	93	13592	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.13592C>A	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190062	0.21954	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	5.06	2.91	0.33838	5.06	2.91	0.33838	Ryanodine Receptor TM 4-6 (1);	0.366933	0.23894	U	0.043517	D	0.89248	0.6661	L	0.60455	1.87	0.22412	N	0.999127	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.76446	-0.2956	10	0.23891	T	0.37	.	7.9499	0.30008	0.1595:0.7556:0.0:0.0849	.	4526;4531	P21817-2;P21817	.;RYR1_HUMAN	H	4531;4526;4526	ENSP00000352608:P4531H;ENSP00000347667:P4526H;ENSP00000354254:P4526H	ENSP00000347667:P4526H	P	+	2	0	0	RYR1	43750330	43750330	0.577000	0.26708	0.987000	0.45799	0.855000	0.48748	0.837000	0.27558	0.711000	0.32018	0.491000	0.48974	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-3.035099	1	0.170000				73	73		323	313	1		1	1		0	0	74	0		1	8.464548e-01	0	15	0	2	0	73	323
RYR1	6261	broad.mit.edu	37	19	39062895	39062895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000359596.3	+	95	13983	c.13983C>T	c.(13981-13983)ggC>ggT	p.G4661G	RYR1_ENST00000355481.4_Silent_p.G4656G|RYR1_ENST00000360985.3_Silent_p.G4656G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4661					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)			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)	GCATCATTGGCTATAATTGTC	0.597																																						ENST00000359596.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996060	0.990000	1.000000																										0				285						c.(13981-13983)ggC>ggT		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						97.0	86.0	90.0					19																	39062895		2203	4300	6503	SO:0001819	synonymous_variant	6261	0	0					g.chr19:39062895C>T	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.13983C>T	chr19.hg19:g.39062895C>T		0					RYR1_ENST00000360985.3_Silent_p.G4656G|RYR1_ENST00000355481.4_Silent_p.G4656G	p.G4661G			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	95	13983	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	1	1	hg19	c.13983C>T	CCDS33011.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				50	49		434	419	1		1	1		0	0	82	0		1	5.728609e-01	0	11	0	7	0	50	434
RYR1	6261	broad.mit.edu	37	19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000359596.3	+	96	14015	c.14015T>G	c.(14014-14016)tTt>tGt	p.F4672C	RYR1_ENST00000355481.4_Missense_Mutation_p.F4667C|RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4672					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)			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)	CTGGTAATCTTTAAGCGGGAG	0.592																																						ENST00000359596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				285						c.(14014-14016)tTt>tGt		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						82.0	78.0	79.0					19																	39063833		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:39063833T>G	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.14015T>G	chr19.hg19:g.39063833T>G	ENSP00000352608:p.Phe4672Cys	0					RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C|RYR1_ENST00000355481.4_Missense_Mutation_p.F4667C	p.F4672C			1	2	3	2.010022	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	96	14015	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.14015T>G	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99121	-5.45;-5.44;-5.44	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.99233	0.9733	M	0.84948	2.725	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	13.4287	0.61042	0.0:0.0:0.0:1.0	.	4667;4672	P21817-2;P21817	.;RYR1_HUMAN	C	4672;4667;4667	ENSP00000352608:F4672C;ENSP00000347667:F4667C;ENSP00000354254:F4667C	ENSP00000347667:F4667C	F	+	2	0	0	RYR1	43755673	43755673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.711000	0.84669	1.858000	0.53909	0.260000	0.18958	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				78	77		294	287	1		1	0		0	0	76	0		1	9.654229e-01	0	0	0	23	0	78	294
MAP4K1	11184	broad.mit.edu	37	19	39087084	39087084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_ENST00000589130.1_Silent_p.L658L|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Silent_p.L662L|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	662	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)			CCGGTCAGCAGCGCGAACACG	0.726																																						ENST00000591517.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				44						c.(1984-1986)Ctg>Ttg		mitogen-activated protein kinase kinase kinase kinase 1							9.0	12.0	11.0					19																	39087084		1961	4117	6078	SO:0001819	synonymous_variant	11184	0	0					g.chr19:39087084G>A	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.1984C>T	chr19.hg19:g.39087084G>A		0					MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000589130.1_Silent_p.L658L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.L662L	NM_007181.4	NP_009112.1	1	2	3	2.010022	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)	26	2012	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)			Silent	SNP	ENST00000591517.1	0	1	hg19	c.1984C>T	CCDS59385.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_001042600			16	16		56	54	0		1	0		0	0	8	0		9.999596e-01	6.898387e-01	0	0	0	10	0	16	56
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	603	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)			CCTTTGGTGTCCTGGATCTTG	0.592																																						ENST00000591517.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1807-1809)Gac>Aac		mitogen-activated protein kinase kinase kinase kinase 1							149.0	162.0	157.0					19																	39087996		2094	4224	6318	SO:0001583	missense	11184	0	0					g.chr19:39087996C>T	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.1807G>A	chr19.hg19:g.39087996C>T	ENSP00000465039:p.Asp603Asn	0					MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_3'UTR	p.D603N	NM_007181.4	NP_009112.1	1	2	3	2.010022	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)	24	1835	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)			Missense_Mutation	SNP	ENST00000591517.1	1	1	hg19	c.1807G>A	CCDS59385.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.600510	0.96614	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.05447	3.44	5.25	4.21	0.49690	5.25	4.21	0.49690	Citron-like (3);	0.235175	0.41097	D	0.000948	T	0.20455	0.0492	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.00420	-1.1750	10	0.54805	T	0.06	.	12.5387	0.56156	0.1672:0.8328:0.0:0.0	.	603;603	Q92918-2;Q92918	.;M4K1_HUMAN	N	603	ENSP00000380066:D603N	ENSP00000221409:D603N	D	-	1	0	0	MAP4K1	43779836	43779836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	1.439000	0.47511	0.555000	0.69702	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	0		2	2	2	0		0	0	250		250	249	1	2.060000	-20.000000	1	0.170000	NM_001042600			258	252		1224	1202	1		1	0		0	0	250	0		1	8.669246e-01	0	0	0	19	0	258	1224
ATCAY	85300	broad.mit.edu	37	19	3909544	3909544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000600960.1_Silent_p.N236N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	236	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)			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)		TGTACCTGAACGGTGCCACGC	0.607																																						ENST00000450849.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(706-708)aaC>aaT		ataxia, cerebellar, Cayman type							50.0	55.0	53.0					19																	3909544		2132	4241	6373	SO:0001819	synonymous_variant	85300	0	0					g.chr19:3909544C>T		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.708C>T	chr19.hg19:g.3909544C>T		0					ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000600960.1_Silent_p.N236N	p.N236N	NM_033064.4	NP_149053.1	1	2	3	2.010022	Q86WG3	ATCAY_HUMAN		7	1175	+		Hepatocellular(1079;0.137)	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	1	1	hg19	c.708C>T	CCDS45923.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				34	33		138	137	1		1			0	0	34	0		1	0	0	0	0	0	0	34	138
ATCAY	85300	broad.mit.edu	37	19	3910849	3910849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000600960.1_Silent_p.F276F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	276	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)			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)		CCTCGTGGTTCATTCGGACTG	0.602																																						ENST00000450849.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(826-828)ttC>ttT		ataxia, cerebellar, Cayman type							122.0	131.0	128.0					19																	3910849		2138	4237	6375	SO:0001819	synonymous_variant	85300	0	0					g.chr19:3910849C>T		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.828C>T	chr19.hg19:g.3910849C>T		0					ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000600960.1_Silent_p.F276F	p.F276F	NM_033064.4	NP_149053.1	1	2	3	2.010022	Q86WG3	ATCAY_HUMAN		8	1295	+		Hepatocellular(1079;0.137)	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	1	1	hg19	c.828C>T	CCDS45923.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000				78	77		330	318	0		1	0		0	0	57	0		1	3.732313e-02	0	0	0	2	0	78	330
MAP4K1	11184	broad.mit.edu	37	19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	521	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)			ATGAAGATGCCTTCCTCTGCC	0.632																																						ENST00000591517.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1561-1563)Ggc>Agc		mitogen-activated protein kinase kinase kinase kinase 1							51.0	54.0	53.0					19																	39090764		2060	4195	6255	SO:0001583	missense	11184	0	0					g.chr19:39090764C>T	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.1561G>A	chr19.hg19:g.39090764C>T	ENSP00000465039:p.Gly521Ser	0					MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S	p.G521S	NM_007181.4	NP_009112.1	1	2	3	2.010022	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)	21	1589	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)			Missense_Mutation	SNP	ENST00000591517.1	1	1	hg19	c.1561G>A	CCDS59385.1	1	.	.	.	.	.	.	.	.	.	.	.	33	5.253734	0.95336	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	4.93	4.93	0.64822	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.80183	2.485	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58713	-0.7588	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	183;521;521	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	521;521;183	ENSP00000380066:G521S;ENSP00000396383:G183S	ENSP00000221409:G521S	G	-	1	0	0	MAP4K1	43782604	43782604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_001042600			53	51		221	216	1		1	0		0	0	50	0		1	9.497484e-01	0	1	0	22	0	53	221
ATCAY	85300	broad.mit.edu	37	19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	330	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)			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)		AGACTGAAGGCCAGGAGGGAG	0.522																																						ENST00000450849.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				7						c.(988-990)gCc>gTc		ataxia, cerebellar, Cayman type							71.0	78.0	76.0					19																	3917763		1906	4105	6011	SO:0001583	missense	85300	0	0					g.chr19:3917763C>T		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.989C>T	chr19.hg19:g.3917763C>T	ENSP00000390941:p.Ala330Val	0					ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	p.A330V	NM_033064.4	NP_149053.1	1	2	3	2.010022	Q86WG3	ATCAY_HUMAN		10	1456	+		Hepatocellular(1079;0.137)	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	1	1	hg19	c.989C>T	CCDS45923.1	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38560	1.16;1.16;1.13	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.180274	0.48286	D	0.000190	T	0.35682	0.0940	L	0.29908	0.895	0.45822	D	0.998699	B;B;B	0.25351	0.124;0.095;0.058	B;B;B	0.27796	0.055;0.083;0.038	T	0.20874	-1.0262	10	0.51188	T	0.08	.	17.0755	0.86585	0.0:1.0:0.0:0.0	.	336;330;330	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	V	330;330;330;336;308	ENSP00000390941:A330V;ENSP00000301260:A330V;ENSP00000381466:A336V	ENSP00000301260:A330V	A	+	2	0	0	ATCAY	3868763	3868763	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	3.283000	0.51701	2.352000	0.79861	0.313000	0.20887	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.321130	1	0.170000				51	50		298	286	1		1			0	0	60	0		1	0	0	0	0	0	0	51	298
EIF3K	27335	broad.mit.edu	37	19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000538434.1	+	3	263	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAAGAAGAACGGCCAATCCG	0.582																																						ENST00000538434.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									EIF3K/CYP39A1(2)	0				8						c.(28-30)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit K							135.0	118.0	123.0					19																	39116677		2203	4300	6503	SO:0001583	missense	27335	0	0					g.chr19:39116677C>T	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.28C>T	chr19.hg19:g.39116677C>T	ENSP00000440999:p.Arg10Trp	0					EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W	p.R10W			1	2	3	2.010022			Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)	3	263	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)			Missense_Mutation	SNP	ENST00000538434.1	1	1	hg19	c.28C>T		1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104402	0.20632	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	1.93	0.25924	4.29	1.93	0.25924	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.50467	D	0.999876	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.003;0.009;0.009	T	0.41124	-0.9526	9	0.87932	D	0	-25.1521	13.4671	0.61260	0.3402:0.6598:0.0:0.0	.	10;97;97	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	W	97;10;97	.	ENSP00000248342:R97W	R	+	1	2	2	EIF3K	43808517	43808517	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.898000	0.39809	0.521000	0.28445	-1.357000	0.01221	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	1	0	1		2	2	2	0		0	0	217		217	216	1	2.060000	-20.000000	1	0.170000	NM_013234			128	127		620	605	1		1	1		0	0	217	0		1	1	0	360	0	1040	0	128	620
CAPN12	147968	broad.mit.edu	37	19	39228155	39228155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39228155C>A	ENST00000328867.4	-	9	1397	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	363	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCACGCACCCAGCGGCCTT	0.701																																						ENST00000328867.4	1.000000	0.120000	4.100000e-01	1.800000e-01	0.270000	0.335343	0.270000	0.250000																										0				20						c.(1087-1089)tgG>tgT		calpain 12							25.0	31.0	29.0					19																	39228155		2199	4291	6490	SO:0001583	missense	147968	0	0					g.chr19:39228155C>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1089G>T	chr19.hg19:g.39228155C>A	ENSP00000331636:p.Trp363Cys	0					CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C|CTD-2540F13.2_ENST00000602255.1_RNA	p.W363C	NM_144691.3	NP_653292.2	1	2	3	2.010022	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)	9	1397	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)			Missense_Mutation	SNP	ENST00000328867.4	0	1	hg19	c.1089G>T	CCDS12519.1	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333993	0.81801	.	.	ENSG00000182472	ENST00000328867	D	0.95853	-3.83	3.76	3.76	0.43208	3.76	3.76	0.43208	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.87932	D	0	.	13.4367	0.61088	0.0:1.0:0.0:0.0	.	363	Q6ZSI9	CAN12_HUMAN	C	363	ENSP00000331636:W363C	ENSP00000331636:W363C	W	-	3	0	0	CAPN12	43919995	43919995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.044000	0.64214	2.086000	0.62901	0.555000	0.69702	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1	0	0	0		2	2	2	0		0	0	47		47	45	1	2.060000	-7.965825	1	0.170000				8	8		371	363	0		1	0		0	0	47	0		9.885949e-01	6.348359e-02	0	1	0	16	0	8	371
CAPN12	147968	broad.mit.edu	37	19	39233119	39233119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	119	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622																																						ENST00000328867.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999046	0.990000	1.000000																										0				20						c.(355-357)cgG>cgA		calpain 12							57.0	51.0	53.0					19																	39233119		2203	4300	6503	SO:0001819	synonymous_variant	147968	0	0					g.chr19:39233119C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.357G>A	chr19.hg19:g.39233119C>T		0					CAPN12_ENST00000601953.1_5'UTR|CTD-2540F13.2_ENST00000602255.1_RNA	p.R119R	NM_144691.3	NP_653292.2	1	2	3	2.010022	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)	3	665	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)			Silent	SNP	ENST00000328867.4	1	1	hg19	c.357G>A	CCDS12519.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-12.903180	1	0.170000				25	25		165	159	1		1	1		0	0	30	0		9.999999e-01	7.826884e-01	0	20	0	1	0	25	165
LGALS4	3960	broad.mit.edu	37	19	39292481	39292481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292481G>A	ENST00000307751.4	-	10	1372	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	299	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAGAGGCGATGGGCAAAGTCA	0.547																																						ENST00000307751.4	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.391301	0.330000	0.310000																										0				17						c.(895-897)Cat>Tat		lectin, galactoside-binding, soluble, 4							90.0	77.0	81.0					19																	39292481		2203	4300	6503	SO:0001583	missense	3960	0	0					g.chr19:39292481G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.895C>T	chr19.hg19:g.39292481G>A	ENSP00000302100:p.His299Tyr	0						p.H299Y	NM_006149.3	NP_006140.1	1	2	3	2.010022	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)	10	1372	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)			Missense_Mutation	SNP	ENST00000307751.4	0	1	hg19	c.895C>T	CCDS12521.1	0	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034770	0.54896	.	.	ENSG00000171747	ENST00000307751	T	0.04970	3.52	5.14	5.14	0.70334	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.81802	2.56	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.02617	-1.1133	10	0.87932	D	0	-25.5554	17.3497	0.87320	0.0:0.0:1.0:0.0	.	299	P56470	LEG4_HUMAN	Y	299	ENSP00000302100:H299Y	ENSP00000302100:H299Y	H	-	1	0	0	LGALS4	43984321	43984321	1.000000	0.71417	0.716000	0.30569	0.023000	0.10783	6.365000	0.73090	2.397000	0.81536	0.491000	0.48974	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.615772	1	0.170000	NM_006149			12	12		438	430	0		1	1		0	0	73	0		9.990400e-01	1	0	173	0	3106	0	12	438
LGALS4	3960	broad.mit.edu	37	19	39292728	39292728	+	Silent	SNP	G	G	A	rs368398848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	243	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGGTACCGTTGCCCATGC	0.552																																						ENST00000307751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(727-729)aaC>aaT		lectin, galactoside-binding, soluble, 4		G		0,4406		0,0,2203	68.0	61.0	64.0		729	-6.2	0.0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LGALS4	NM_006149.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		243/324	39292728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3960	10	121412	40				g.chr19:39292728G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.729C>T	chr19.hg19:g.39292728G>A		0						p.N243N	NM_006149.3	NP_006140.1	1	2	3	2.010022	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)	9	1206	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)			Silent	SNP	ENST00000307751.4	1	1	hg19	c.729C>T	CCDS12521.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000	NM_006149			54	53		251	246	0		1	1		0	0	67	0		1	1	0	1638	0	1471	0	54	251
LGALS4	3960	broad.mit.edu	37	19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	LGALS4_ENST00000597803.1_5'Flank	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	172					cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTGATGGCAATGTCCGGG	0.607																																						ENST00000307751.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				17						c.(514-516)tGc>tAc		lectin, galactoside-binding, soluble, 4							54.0	54.0	54.0					19																	39294407		2203	4300	6503	SO:0001583	missense	3960	0	0					g.chr19:39294407C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.515G>A	chr19.hg19:g.39294407C>T	ENSP00000302100:p.Cys172Tyr	0					LGALS4_ENST00000597803.1_5'Flank	p.C172Y	NM_006149.3	NP_006140.1	1	2	3	2.010022	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)	6	992	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)			Missense_Mutation	SNP	ENST00000307751.4	1	1	hg19	c.515G>A	CCDS12521.1	1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513905	0.00975	.	.	ENSG00000171747	ENST00000307751	T	0.04758	3.56	4.97	-9.95	0.00446	4.97	-9.95	0.00446	.	4.500960	0.00166	N	0.000001	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	2.524	3.8296	0.08868	0.0939:0.1841:0.4266:0.2954	.	172	P56470	LEG4_HUMAN	Y	172	ENSP00000302100:C172Y	ENSP00000302100:C172Y	C	-	2	0	0	LGALS4	43986247	43986247	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.699000	0.01906	-1.700000	0.01414	-1.291000	0.01355	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-14.393610	1	0.170000	NM_006149			23	23		118	116	1		1	1		0	0	28	0		9.999996e-01	1	0	1812	0	1804	0	23	118
RINL	126432	broad.mit.edu	37	19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000591812.1	-	10	1530	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Missense_Mutation_p.L368I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.L368I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	482	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000591812.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1444-1446)Ctc>Atc		Ras and Rab interactor-like							61.0	68.0	66.0					19																	39360243		2203	4300	6503	SO:0001583	missense	126432	0	0					g.chr19:39360243G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1444C>A	chr19.hg19:g.39360243G>T	ENSP00000467107:p.Leu482Ile	0		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000598904.1_Missense_Mutation_p.L368I|RINL_ENST00000340740.3_Missense_Mutation_p.L368I|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA	p.L482I			1	2	3	2.010022	Q6ZS11	RINL_HUMAN		10	1530	-			B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	1	1	hg19	c.1444C>A	CCDS59386.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952248	0.73787	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.37235	1.21	5.27	4.17	0.49024	5.27	4.17	0.49024	Vacuolar sorting protein 9 (2);	0.069635	0.56097	D	0.000024	T	0.43010	0.1228	L	0.57536	1.79	0.41040	D	0.985222	P;P	0.47484	0.896;0.747	P;P	0.49853	0.624;0.624	T	0.36456	-0.9747	10	0.52906	T	0.07	-23.169	11.7106	0.51623	0.0:0.0:0.8239:0.1761	.	482;368	B4DPG5;Q6ZS11	.;RINL_HUMAN	I	368	ENSP00000340369:L368I	ENSP00000340369:L368I	L	-	1	0	0	RINL	44052083	44052083	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.849000	0.48286	2.613000	0.88420	0.462000	0.41574	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	0		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_198445			71	69		366	359	1		1	1		0	0	85	0		1	9.972497e-01	0	23	0	25	0	71	366
RINL	126432	broad.mit.edu	37	19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000591812.1	-	10	1506	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Missense_Mutation_p.L360M|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.L360M			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	474	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000591812.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1420-1422)Ctg>Atg		Ras and Rab interactor-like							67.0	74.0	72.0					19																	39360267		2203	4300	6503	SO:0001583	missense	126432	0	0					g.chr19:39360267G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1420C>A	chr19.hg19:g.39360267G>T	ENSP00000467107:p.Leu474Met	0		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000598904.1_Missense_Mutation_p.L360M|RINL_ENST00000340740.3_Missense_Mutation_p.L360M|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA	p.L474M			1	2	3	2.010022	Q6ZS11	RINL_HUMAN		10	1506	-			B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	1	1	hg19	c.1420C>A	CCDS59386.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053794	0.55218	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.33438	1.41	5.27	4.22	0.49857	5.27	4.22	0.49857	Vacuolar sorting protein 9 (2);	0.176689	0.39407	N	0.001373	T	0.43478	0.1249	L	0.42686	1.345	0.33299	D	0.564609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53500	-0.8430	10	0.34782	T	0.22	-15.0535	10.0355	0.42127	0.0946:0.0:0.9054:0.0	.	474;360	B4DPG5;Q6ZS11	.;RINL_HUMAN	M	360	ENSP00000340369:L360M	ENSP00000340369:L360M	L	-	1	2	2	RINL	44052107	44052107	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.971000	0.49248	1.335000	0.45486	0.462000	0.41574	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	0		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_198445			80	79		395	388	1		1	1		0	0	93	0		1	9.994794e-01	0	27	0	30	0	80	395
RINL	126432	broad.mit.edu	37	19	39361854	39361854	+	Silent	SNP	G	G	A	rs367723236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000591812.1	-	7	551	c.465C>T	c.(463-465)atC>atT	p.I155I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Silent_p.I41I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.I41I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	155					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597																																						ENST00000591812.1	1.000000	0.750000	1	9.100000e-01	0.990000	0.969200	0.990000	1.000000																										0				17						c.(463-465)atC>atT		Ras and Rab interactor-like							53.0	52.0	52.0					19																	39361854		2203	4300	6503	SO:0001819	synonymous_variant	126432	0	0					g.chr19:39361854G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.465C>T	chr19.hg19:g.39361854G>A		0					RINL_ENST00000598904.1_Silent_p.I41I|RINL_ENST00000340740.3_Silent_p.I41I|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA	p.I155I			1	2	3	2.010022	Q6ZS11	RINL_HUMAN		7	551	-			B4DPG5	Silent	SNP	ENST00000591812.1	1	1	hg19	c.465C>T	CCDS59386.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.318794	1	0.170000	NM_198445			28	27		276	270	0		1	1		0	0	44	0		1	3.518092e-01	0	2	0	11	0	28	276
SIRT2	22933	broad.mit.edu	37	19	39379770	39379770	+	Missense_Mutation	SNP	C	C	T	rs144373891	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39379770C>T	ENST00000249396.7	-	8	759	c.458G>A	c.(457-459)cGc>cAc	p.R153H	SIRT2_ENST00000392081.2_Missense_Mutation_p.R116H|SIRT2_ENST00000358931.5_Missense_Mutation_p.R153H	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	153	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CTTCAGCAGGCGCATGAAGTA	0.622													C|||	14	0.00279553	0.0008	0.0014	5008	,	,		21802	0.0		0.0109	False		,,,				2504	0.001					ENST00000249396.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999551	0.990000	1.000000																										0				9						c.(457-459)cGc>cAc		sirtuin 2		C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	92.0	71.0	78.0		347,458,347	5.0	1.0	19	dbSNP_134	78	98,8502	54.0+/-114.7	0,98,4202	yes	missense,missense,missense	SIRT2	NM_001193286.1,NM_012237.3,NM_030593.2	29,29,29	0,104,6399	TT,TC,CC		1.1395,0.1362,0.7996	possibly-damaging,possibly-damaging,possibly-damaging	116/235,153/390,116/353	39379770	104,12902	2203	4300	6503	SO:0001583	missense	22933	1173	121412	62				g.chr19:39379770C>T	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.458G>A	chr19.hg19:g.39379770C>T	ENSP00000249396:p.Arg153His	0					SIRT2_ENST00000392081.2_Missense_Mutation_p.R116H|SIRT2_ENST00000358931.5_Missense_Mutation_p.R153H	p.R153H	NM_012237.3	NP_036369.2	1	2	3	2.010022	Q8IXJ6	SIR2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)	8	759	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	1	0	hg19	c.458G>A	CCDS12523.1	1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	18.51	3.640140	0.67244	0.001362	0.011395	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.186557	0.45867	D	0.000325	T	0.25938	0.0632	M	0.80847	2.515	0.53005	D	0.999967	P;D;D;P	0.62365	0.749;0.991;0.981;0.73	B;P;P;B	0.50440	0.074;0.62;0.641;0.078	T	0.10497	-1.0627	10	0.59425	D	0.04	-16.8523	15.4087	0.74900	0.0:1.0:0.0:0.0	.	153;116;153;133	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	H	153;116;153;138;116;116;116	ENSP00000249396:R153H;ENSP00000375931:R116H;ENSP00000351809:R153H;ENSP00000404309:R116H;ENSP00000385146:R116H;ENSP00000401203:R116H	ENSP00000249396:R153H	R	-	2	0	0	SIRT2	44071610	44071610	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.026000	0.49689	2.630000	0.89119	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-2.966168	1	0.170000				43	43		313	307	1		1	1		0	0	62	0		1	1	0	48	0	178	0	43	313
FBXO17	115290	broad.mit.edu	37	19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|SARS2_ENST00000448145.2_Missense_Mutation_p.V4A	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	169	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617																																						ENST00000292852.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(505-507)gTg>gCg		F-box protein 17							83.0	66.0	72.0					19																	39437163		2203	4300	6503	SO:0001583	missense	115290	0	0					g.chr19:39437163A>G	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.506T>C	chr19.hg19:g.39437163A>G	ENSP00000292852:p.Val169Ala	0					SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A	p.V169A	NM_024907.5	NP_079183.4	1	2	3	2.010022	Q96EF6	FBX17_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)	4	847	-	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	1	1	hg19	c.506T>C	CCDS12526.1	1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199659	0.38905	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32272	1.46;1.46	4.25	4.25	0.50352	4.25	4.25	0.50352	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.321927	0.21695	N	0.070509	T	0.22859	0.0552	L	0.29908	0.895	.	.	.	B;B	0.22541	0.071;0.037	B;B	0.22880	0.042;0.042	T	0.27365	-1.0076	9	0.66056	D	0.02	.	9.9197	0.41457	1.0:0.0:0.0:0.0	.	4;169	E7EX87;Q96EF6	.;FBX17_HUMAN	A	4;178;169	ENSP00000399330:V4A;ENSP00000292852:V169A	ENSP00000292852:V169A	V	-	2	0	0	FBXO17	44129003	44129003	0.758000	0.28405	0.633000	0.29310	0.777000	0.43975	2.350000	0.44063	1.914000	0.55421	0.374000	0.22700	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-19.999980	1	0.170000	NM_024907			44	41		206	194	1		1	1		0	0	81	0		1	9.961730e-01	0	7	0	36	0	44	206
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A	rs369267515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587																																						ENST00000292853.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(841-843)Cgt>Tgt		F-box protein 27		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	103.0	109.0		841	-2.6	0.0	19		109	0,8600		0,0,4300	no	missense	FBXO27	NM_178820.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	281/284	39516062	1,13005	2203	4300	6503	SO:0001583	missense	126433	4	121410	35				g.chr19:39516062G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.841C>T	chr19.hg19:g.39516062G>A	ENSP00000292853:p.Arg281Cys	0					FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	p.R281C	NM_178820.3	NP_849142.1	1	2	3	2.010022	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)	6	960	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	1	1	hg19	c.841C>T	CCDS12527.1	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482081	0.44147	2.27E-4	0.0	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37235	1.21;1.21	3.41	-2.62	0.06152	3.41	-2.62	0.06152	.	1.761420	0.03259	N	0.183013	T	0.21881	0.0527	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20107	-1.0285	10	0.51188	T	0.08	-15.2278	3.283	0.06922	0.4933:0.0:0.3144:0.1923	.	281	Q8NI29	FBX27_HUMAN	C	281	ENSP00000292853:R281C;ENSP00000437662:R281C	ENSP00000292853:R281C	R	-	1	0	0	FBXO27	44207902	44207902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-0.420000	0.07427	-0.339000	0.08088	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1	1	0	1		16	2	2	1		1	1	117		117	115	1	2.060000	-2.879544	1	0.170000				70	68		435	430	1		1	1		1	0	117	0		1	7.042189e-01	0	2	0	15	0	70	435
FBXO27	126433	broad.mit.edu	37	19	39517624	39517624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	198	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACATACAGCCGCTGTCGTGTC	0.562																																						ENST00000292853.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(592-594)agC>agT		F-box protein 27							122.0	118.0	120.0					19																	39517624		2203	4300	6503	SO:0001819	synonymous_variant	126433	1	121412	31				g.chr19:39517624G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.594C>T	chr19.hg19:g.39517624G>A		0					FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	p.S198S	NM_178820.3	NP_849142.1	1	2	3	2.010022	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)	5	713	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Q96C87	Silent	SNP	ENST00000292853.4	1	1	hg19	c.594C>T	CCDS12527.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000				110	109		575	558	1		1	1		0	0	118	0		1	8.861033e-01	0	4	0	18	0	110	575
PAK4	10298	broad.mit.edu	37	19	39667298	39667298	+	Silent	SNP	C	C	T	rs201757969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000593690.1	+	9	1855	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	PAK4_ENST00000360442.3_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000599386.1_Silent_p.V323V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000321944.4_Silent_p.V386V	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15633	0.0		0.001	False		,,,				2504	0.0					ENST00000593690.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1426-1428)gtC>gtT		p21 protein (Cdc42/Rac)-activated kinase 4							116.0	122.0	120.0					19																	39667298		2203	4300	6503	SO:0001819	synonymous_variant	10298	3	121412	42				g.chr19:39667298C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1428C>T	chr19.hg19:g.39667298C>T		0					PAK4_ENST00000599386.1_Silent_p.V323V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	p.V476V	NM_001014831.2	NP_001014831.1	1	2	3	2.010022	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)	9	1855	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	1	1	hg19	c.1428C>T	CCDS12528.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1	0	0	0		2	2	2	0		0	0	201		201	199	1	2.060000	-20.000000	1	0.170000				197	196		901	881	1		1	1		0	0	201	0		1	1	0	77	0	92	0	197	901
EEF2	1938	broad.mit.edu	37	19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	716					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCTCCGCGGTGGATGGC	0.672																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				21						c.(2146-2148)cGc>cAc		eukaryotic translation elongation factor 2							63.0	60.0	61.0					19																	3977529		2197	4299	6496	SO:0001583	missense	1938	0	0					g.chr19:3977529C>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2147G>A	chr19.hg19:g.3977529C>T	ENSP00000307940:p.Arg716His	0						p.R716H	NM_001961.3	NP_001952.1	1	2	3	2.010022	P13639	EF2_HUMAN		13	2235	-		Hepatocellular(1079;0.137)	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	1	1	hg19	c.2147G>A	CCDS12117.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252365	0.80135	.	.	ENSG00000167658	ENST00000309311	T	0.37752	1.18	5.51	5.51	0.81932	5.51	5.51	0.81932	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);	0.055071	0.64402	D	0.000002	T	0.77738	0.4175	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87499	0.2432	10	0.87932	D	0	-22.9049	17.9738	0.89121	0.0:1.0:0.0:0.0	.	716	P13639	EF2_HUMAN	H	716	ENSP00000307940:R716H	ENSP00000307940:R716H	R	-	2	0	0	EEF2	3928529	3928529	1.000000	0.71417	0.914000	0.36105	0.082000	0.17680	7.670000	0.83925	2.585000	0.87301	0.556000	0.70494	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1		2	2	2	0		0	0	12		12	10	1	2.060000	-20.000000	1	0.170000	NM_001961			21	21		64	64	1		1	1	1	0	0	12	885		9.999992e-01	1	1	1514	207	4386	938	21	64
PAK4	10298	broad.mit.edu	37	19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000593690.1	+	9	1870	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000599386.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647																																						ENST00000593690.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1441-1443)tgG>tgA		p21 protein (Cdc42/Rac)-activated kinase 4							99.0	105.0	103.0					19																	39667313		2203	4300	6503	SO:0001587	stop_gained	10298	0	0					g.chr19:39667313G>A	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1443G>A	chr19.hg19:g.39667313G>A	ENSP00000469413:p.Trp481*	0					PAK4_ENST00000599386.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	p.W481*	NM_001014831.2	NP_001014831.1	1	2	3	2.010022	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)	9	1870	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Nonsense_Mutation	SNP	ENST00000593690.1	0	1	hg19	c.1443G>A	CCDS12528.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.304802	0.98200	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	.	.	.	X	481;328;285;237;481;481	.	ENSP00000326864:W328X	W	+	3	0	0	PAK4	44359153	44359153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.521000	0.84997	0.650000	0.86243	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1	1	0	0		2	2	2	0		0	0	181		181	179	1	2.060000	-20.000000	1	0.170000				199	198		803	783	0		1	1		0	0	181	0		1	1	0	15	0	141	0	199	803
LRFN1	57622	broad.mit.edu	37	19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCGGCCTCGGCCGGGCCGC	0.721																																						ENST00000248668.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				18						c.(2092-2094)cCg>cTg		leucine rich repeat and fibronectin type III domain containing 1							7.0	8.0	8.0					19																	39798496		1818	4022	5840	SO:0001583	missense	57622	0	0					g.chr19:39798496G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2093C>T	chr19.hg19:g.39798496G>A	ENSP00000248668:p.Pro698Leu	0						p.P698L	NM_020862.1	NP_065913.1	1	2	3	2.010022	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	2	2092	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	1	1	hg19	c.2093C>T	CCDS46071.1	1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259229	0.05791	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.48	2.16	0.27623	4.48	2.16	0.27623	.	1.002150	0.08049	N	0.996419	T	0.36413	0.0966	N	0.08118	0	0.32786	N	0.501836	P	0.40083	0.702	B	0.25291	0.059	T	0.33369	-0.9871	10	0.39692	T	0.17	.	10.8054	0.46514	0.0:0.1395:0.7155:0.145	.	698	Q9P244	LRFN1_HUMAN	L	698	ENSP00000248668:P698L	ENSP00000248668:P698L	P	-	2	0	0	LRFN1	44490336	44490336	0.751000	0.28327	0.918000	0.36340	0.040000	0.13550	4.322000	0.59215	0.350000	0.24002	-2.048000	0.00412	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_020862			21	21		65	65	0		1	0		0	0	14	0		9.999992e-01	0	0	0	0	1	0	21	65
LRFN1	57622	broad.mit.edu	37	19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	696						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCGGCCGGGCCGCGGCTCCC	0.716																																						ENST00000248668.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				18						c.(2086-2088)Gcc>Acc		leucine rich repeat and fibronectin type III domain containing 1							6.0	8.0	7.0					19																	39798503		1814	4005	5819	SO:0001583	missense	57622	0	0					g.chr19:39798503C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2086G>A	chr19.hg19:g.39798503C>T	ENSP00000248668:p.Ala696Thr	0						p.A696T	NM_020862.1	NP_065913.1	1	2	3	2.010022	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	2	2085	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	1	1	hg19	c.2086G>A	CCDS46071.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122258	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.63096	-0.02	4.32	4.32	0.51571	4.32	4.32	0.51571	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.39200	D	0.963129	P	0.38395	0.629	B	0.31101	0.124	T	0.52616	-0.8552	9	0.54805	T	0.06	.	14.3036	0.66371	0.0:1.0:0.0:0.0	.	696	Q9P244	LRFN1_HUMAN	T	696	ENSP00000248668:A696T	ENSP00000248668:A696T	A	-	1	0	0	LRFN1	44490343	44490343	0.003000	0.15002	0.950000	0.38849	0.046000	0.14306	1.304000	0.33482	1.971000	0.57363	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	NM_020862			17	17		59	59	0		1	0		0	0	13	0		9.999844e-01	5.550146e-02	0	0	0	2	0	17	59
LRFN1	57622	broad.mit.edu	37	19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	234						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCCTGCGACCTCAGGAA	0.682																																						ENST00000248668.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(700-702)tCg>tTg		leucine rich repeat and fibronectin type III domain containing 1							23.0	28.0	26.0					19																	39805276		2114	4236	6350	SO:0001583	missense	57622	0	0					g.chr19:39805276G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.701C>T	chr19.hg19:g.39805276G>A	ENSP00000248668:p.Ser234Leu	0					CTC-246B18.8_ENST00000601911.1_RNA	p.S234L	NM_020862.1	NP_065913.1	1	2	3	2.010022	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	1	700	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	1	1	hg19	c.701C>T	CCDS46071.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118643	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.3	4.3	0.51218	4.3	4.3	0.51218	.	0.200845	0.24848	N	0.035105	T	0.54515	0.1863	L	0.54323	1.7	0.32386	N	0.553962	B	0.17038	0.02	B	0.13407	0.009	T	0.56920	-0.7899	10	0.12766	T	0.61	.	14.2826	0.66224	0.0:0.0:1.0:0.0	.	234	Q9P244	LRFN1_HUMAN	L	234	ENSP00000248668:S234L	ENSP00000248668:S234L	S	-	2	0	0	LRFN1	44497116	44497116	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	5.523000	0.67099	2.234000	0.73211	0.491000	0.48974	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_020862			32	32		100	99	1		1	0		0	0	20	0		1	6.111111e-02	0	0	0	2	0	32	100
EEF2	1938	broad.mit.edu	37	19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	293	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCAGGATCAGCTGGCAG	0.647																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(877-879)Atc>Gtc		eukaryotic translation elongation factor 2							123.0	118.0	120.0					19																	3981965		2203	4300	6503	SO:0001583	missense	1938	0	0					g.chr19:3981965T>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.877A>G	chr19.hg19:g.3981965T>C	ENSP00000307940:p.Ile293Val	0					EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	p.I293V	NM_001961.3	NP_001952.1	1	2	3	2.010022	P13639	EF2_HUMAN		6	965	-		Hepatocellular(1079;0.137)	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	1	1	hg19	c.877A>G	CCDS12117.1	1	.	.	.	.	.	.	.	.	.	.	T	6.539	0.467734	0.12402	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76448	-1.02	6.06	6.06	0.98353	6.06	6.06	0.98353	Protein synthesis factor, GTP-binding (1);	0.056752	0.85682	D	0.000000	T	0.53045	0.1772	N	0.03903	-0.33	0.48830	D	0.999717	B	0.02656	0.0	B	0.06405	0.002	T	0.53613	-0.8414	10	0.13470	T	0.59	-61.7397	10.1469	0.42769	0.0:0.0737:0.0:0.9263	.	293	P13639	EF2_HUMAN	V	293	ENSP00000307940:I293V	ENSP00000307940:I293V	I	-	1	0	0	EEF2	3932965	3932965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.109000	0.57824	2.319000	0.78375	0.533000	0.62120	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-20.000000	1	0.170000	NM_001961			148	145		665	660	1		1	1	1	0	0	165	1175		1	1	1	1479	208	4781	1003	148	665
LRFN1	57622	broad.mit.edu	37	19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	213						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTCCAGACGGACCAGCTTGTG	0.652																																						ENST00000248668.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(637-639)gTc>gCc		leucine rich repeat and fibronectin type III domain containing 1							42.0	51.0	48.0					19																	39805339		2158	4276	6434	SO:0001583	missense	57622	0	0					g.chr19:39805339A>G	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.638T>C	chr19.hg19:g.39805339A>G	ENSP00000248668:p.Val213Ala	0					CTC-246B18.8_ENST00000601911.1_RNA	p.V213A	NM_020862.1	NP_065913.1	1	2	3	2.010022	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	1	637	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	1	1	hg19	c.638T>C	CCDS46071.1	1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601228	0.03744	.	.	ENSG00000128011	ENST00000248668	T	0.57273	0.41	4.62	3.61	0.41365	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001581	T	0.31358	0.0794	N	0.25485	0.75	0.47819	D	0.999529	B	0.20052	0.041	B	0.18871	0.023	T	0.13255	-1.0516	10	0.02654	T	1	.	8.0904	0.30797	0.9026:0.0:0.0974:0.0	.	213	Q9P244	LRFN1_HUMAN	A	213	ENSP00000248668:V213A	ENSP00000248668:V213A	V	-	2	0	0	LRFN1	44497179	44497179	0.998000	0.40836	0.957000	0.39632	0.993000	0.82548	3.704000	0.54815	0.810000	0.34279	0.454000	0.30748	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_020862			34	33		117	116	1		1	0		0	0	23	0		1	1.348974e-01	0	0	0	3	0	34	117
GMFG	9535	broad.mit.edu	37	19	39826613	39826613	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000597595.1	-	1	212		c.e1+1		GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000602185.1_Splice_Site|GMFG_ENST00000598034.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000601387.1_Splice_Site	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma						negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCCTGACCATGATTGTT	0.622																																						ENST00000597595.1	1.000000	0.230000	8.700000e-01	3.600000e-01	0.560000	0.600484	0.560000	1.000000																										0				10						c.e1+1		glia maturation factor, gamma							55.0	47.0	50.0					19																	39826613		2203	4300	6503	SO:0001630	splice_region_variant	9535	0	0					g.chr19:39826613C>T	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.3+1G>A	chr19.hg19:g.39826613C>T		0					GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000602185.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000598034.1_Splice_Site		NM_004877.2	NP_004868.1	1	2	3	2.010022	O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	1	212	-	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q6IB37	Splice_Site	SNP	ENST00000597595.1	0	1	hg19		CCDS12532.1	0	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736996	0.30774	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.11	4.11	0.48088	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7108	0.51625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	GMFG	44518453	44518453	0.990000	0.36364	1.000000	0.80357	0.420000	0.31355	2.121000	0.41977	2.113000	0.64589	0.511000	0.50034	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1	0	0	0		2	2	2	0		0	0	23		23	22	1	2.060000	-9.246146	1	0.170000		Intron		6	5		133	128	0		1	0		0	0	23	0		9.610534e-01	0	0	0	0	1	0	6	133
SAMD4B	55095	broad.mit.edu	37	19	39847484	39847484	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39847484G>A	ENST00000314471.6	+	0	986				SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGTGACGGCGCTGGCCCTCG	0.677																																						ENST00000314471.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.997346	0.990000	1.000000																										0				15								sterile alpha motif domain containing 4B							18.0	14.0	15.0					19																	39847484		2199	4290	6489			55095	0	0					g.chr19:39847484G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.-50G>A	chr19.hg19:g.39847484G>A		0					SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame		NM_018028.2	NP_060498.2	1	2	3	2.010022	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)	0	986	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		A5Z0M6|Q6P194	Translation_Start_Site	SNP	ENST00000314471.6	0	1	hg19		CCDS33020.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.992430	1	0.170000	NM_018028			12	11		65	62	0		1	1		0	0	20	0		9.991328e-01	9.981122e-01	0	25	0	39	0	12	65
MED29	55588	broad.mit.edu	37	19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000599213.2	+	3	307	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.S94G|PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.S115G			Q9NX70	MED29_HUMAN	mediator complex subunit 29	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473																																						ENST00000599213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(280-282)Agc>Ggc		mediator complex subunit 29							180.0	179.0	179.0					19																	39884197		2203	4300	6503	SO:0001583	missense	55588	0	0					g.chr19:39884197A>G	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.280A>G	chr19.hg19:g.39884197A>G	ENSP00000471802:p.Ser94Gly	0					PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.S94G|MED29_ENST00000315588.5_Missense_Mutation_p.S115G	p.S94G			1	2	3	2.010022	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)	3	307	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	1	1	hg19	c.280A>G		1	.	.	.	.	.	.	.	.	.	.	a	9.103	1.004571	0.19199	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.099330	0.64402	D	0.000002	T	0.31979	0.0814	L	0.31065	0.9	0.28778	N	0.899981	P;B	0.36909	0.573;0.006	B;B	0.39706	0.307;0.005	T	0.15983	-1.0418	9	0.21540	T	0.41	-4.0518	11.6009	0.51001	1.0:0.0:0.0:0.0	.	94;115	Q9NX70;B4DUA7	MED29_HUMAN;.	G	115;33	.	ENSP00000314343:S115G	S	+	1	0	0	MED29	44576037	44576037	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.703000	0.68340	1.833000	0.53350	0.456000	0.33151	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	1	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	XM_290829			122	120		652	641	1		1	1		0	0	156	0		1	1	0	58	0	144	0	122	652
PLEKHG2	64857	broad.mit.edu	37	19	39905984	39905984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	ENST00000409794.3	+	4	1234	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	128	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 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)			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)			AACAGGACTACCTGGGCCCTC	0.642																																						ENST00000409794.3	1.000000	0.380000	1	5.400000e-01	0.750000	0.754678	0.750000	1.000000																										0				40						c.(382-384)taC>taA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							40.0	37.0	38.0					19																	39905984		2203	4300	6503	SO:0001587	stop_gained	64857	0	0					g.chr19:39905984C>A	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.384C>A	chr19.hg19:g.39905984C>A	ENSP00000386733:p.Tyr128*	0					PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*	p.Y128*	NM_022835.2	NP_073746.2	1	2	3	2.010022	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)	4	1234	+	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)		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	0	1	hg19	c.384C>A	CCDS33022.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.794245|3.794245	0.70452|0.70452	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354	.|.	.|.	.|.	4.49|4.49	3.45|3.45	0.39498|0.39498	4.49|4.49	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.47455	.|D	.|0.000222	T|.	0.52901|.	0.1763|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63120|.	-0.6708|.	3|.	.|.	.|.	.|.	.|.	10.3059|10.3059	0.43680|0.43680	0.0:0.9018:0.0:0.0982|0.0:0.9018:0.0:0.0982	.|.	.|.	.|.	.|.	N|X	25|128;128;128;69;128;129	.|.	.|.	T|Y	+|+	2|3	0|2	0|2	PLEKHG2|PLEKHG2	44597824|44597824	44597824|44597824	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	0.373000|0.373000	0.20484|0.20484	1.108000|1.108000	0.41662|0.41662	0.491000|0.491000	0.48974|0.48974	ACC|TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-14.048770	1	0.170000	NM_022835			10	9		157	156	0		1	1		0	0	29	0		9.969750e-01	8.765880e-01	0	6	0	55	0	10	157
PLEKHG2	64857	broad.mit.edu	37	19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000409794.3	+	5	1349	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	167	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 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)			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)			GGAGGACTTGGAGAACAGCAG	0.667																																						ENST00000409794.3	1.000000	0.590000	9.200000e-01	6.700000e-01	0.770000	0.794111	0.770000	0.760000																										0				40						c.(499-501)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							78.0	86.0	83.0					19																	39907007		2203	4300	6503	SO:0001583	missense	64857	0	0					g.chr19:39907007G>A	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.499G>A	chr19.hg19:g.39907007G>A	ENSP00000386733:p.Glu167Lys	0					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K	p.E167K	NM_022835.2	NP_073746.2	1	2	3	2.010022	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)	5	1349	+	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)		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	1	1	hg19	c.499G>A	CCDS33022.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006214|5.006214	0.93287|0.93287	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354|ENST00000205135	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	Dbl homology (DH) domain (5);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|.	0.73999|.	0.3659|.	M|M	0.70842|0.70842	2.15|2.15	0.50039|0.50039	D|D	0.999843|0.999843	D;D;P|.	0.71674|.	0.998;0.98;0.934|.	D;P;P|.	0.74023|.	0.982;0.896;0.79|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;108;167|.	Q9H7P9;E7ESZ3;Q9H7P9-2|.	PKHG2_HUMAN;.;.|.	K|X	167;167;167;108;167;168|63	ENSP00000386733:E167K;ENSP00000392906:E167K;ENSP00000367812:E167K;ENSP00000408857:E108K;ENSP00000386492:E167K;ENSP00000412818:E168K|.	ENSP00000367812:E167K|.	E|W	+|+	1|3	0|0	0|0	PLEKHG2|PLEKHG2	44598847|44598847	44598847|44598847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	7.981000|7.981000	0.88123|0.88123	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GAG|TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	1	0	0		2	2	2	0		0	0	151		151	151	1	2.060000	-3.221883	1	0.170000	NM_022835			56	53		808	792	0		1	1		0	0	151	0		1	8.254410e-01	0	3	0	45	0	56	808
PLEKHG2	64857	broad.mit.edu	37	19	39907596	39907596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000409794.3	+	7	1550	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000425673.1_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000409797.2_Silent_p.L234L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	234	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 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)			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)			GAGCTTCCTGCTGAAACCTGT	0.672																																						ENST00000409794.3	1.000000	0.290000	6.500000e-01	3.800000e-01	0.490000	0.536554	0.490000	0.470000																										0				40						c.(700-702)Ctg>Ttg		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							32.0	34.0	33.0					19																	39907596		2200	4297	6497	SO:0001819	synonymous_variant	64857	0	0					g.chr19:39907596C>T	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.700C>T	chr19.hg19:g.39907596C>T		0					PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000425673.1_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L	p.L234L	NM_022835.2	NP_073746.2	1	2	3	2.010022	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)	7	1550	+	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)		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	1	1	hg19	c.700C>T	CCDS33022.2	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	0	1		2	2	2	0		0	0	86		86	82	1	2.060000	-17.612570	1	0.170000	NM_022835			18	17		430	417	1		1	1		0	0	86	0		9.999771e-01	6.715197e-01	0	5	0	51	0	18	430
PLEKHG2	64857	broad.mit.edu	37	19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000409794.3	+	9	1864	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	338	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)			GGCTGCTCTTCCTGTTCTCTC	0.632																																						ENST00000409794.3	1.000000	0.750000	1	9.900000e-01	0.990000	0.981103	0.990000	1.000000																										0				40						c.(1012-1014)ttC>ttA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							19.0	19.0	19.0					19																	39908676		2203	4297	6500	SO:0001583	missense	64857	0	0					g.chr19:39908676C>A	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.1014C>A	chr19.hg19:g.39908676C>A	ENSP00000386733:p.Phe338Leu	0					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L	p.F338L	NM_022835.2	NP_073746.2	1	2	3	2.010022	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)	9	1864	+	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)		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	0	1	hg19	c.1014C>A	CCDS33022.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.098734|4.098734	0.76870|0.76870	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74;-2.74|.	4.65|4.65	0.0907|0.0907	0.14464|0.14464	4.65|4.65	0.0907|0.0907	0.14464|0.14464	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.37697|0.37697	1.125|1.125	0.41715|0.41715	D|D	0.989477|0.989477	P;D;P;P|.	0.69078|.	0.499;0.997;0.55;0.678|.	P;D;P;P|.	0.70716|.	0.708;0.97;0.613;0.519|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.87932|.	D|.	0|.	.|.	8.4114|8.4114	0.32646|0.32646	0.0:0.6421:0.0:0.3579|0.0:0.6421:0.0:0.3579	.|.	338;338;279;338|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	L|Y	338;338;338;279;338|235	ENSP00000386733:F338L;ENSP00000392906:F338L;ENSP00000367812:F338L;ENSP00000408857:F279L;ENSP00000386492:F338L|.	ENSP00000367812:F338L|.	F|S	+|+	3|2	2|0	2|0	PLEKHG2|PLEKHG2	44600516|44600516	44600516|44600516	0.998000|0.998000	0.40836|0.40836	0.875000|0.875000	0.34327|0.34327	0.859000|0.859000	0.49053|0.49053	1.089000|1.089000	0.30890|0.30890	-0.008000|-0.008000	0.14320|0.14320	-0.265000|-0.265000	0.10407|0.10407	TTC|TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.468540	1	0.170000	NM_022835			12	12		94	91	0		1	1		0	0	11	0		9.991683e-01	9.886669e-01	0	16	0	47	0	12	94
SUPT5H	6829	broad.mit.edu	37	19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	211	Interaction with SUPT4H1.				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)			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)			GCAGCCCCTGCAGATCAAGTC	0.547																																						ENST00000599117.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(631-633)Cag>Tag		suppressor of Ty 5 homolog (S. cerevisiae)							81.0	78.0	79.0					19																	39955444		2203	4300	6503	SO:0001587	stop_gained	6829	0	0					g.chr19:39955444C>T	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.631C>T	chr19.hg19:g.39955444C>T	ENSP00000470252:p.Gln211*	0					SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*	p.Q211*			1	2	3	2.010022	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)	12	998	+	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)		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	0	1	hg19	c.631C>T	CCDS12536.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.821838	0.98507	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5112	18.4325	0.90632	0.0:1.0:0.0:0.0	.	.	.	.	X	211;207;189;211	.	.	Q	+	1	0	0	SUPT5H	44647284	44647284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.645000	0.89757	0.655000	0.94253	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_003169			69	68		328	327	0		1	1		0	0	86	0		1	1	0	3	0	185	0	69	328
SUPT5H	6829	broad.mit.edu	37	19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				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)			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)			CACCAGGTGGCGCCAAGCCCA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599117.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2743-2745)gCg>gTg		suppressor of Ty 5 homolog (S. cerevisiae)							82.0	76.0	78.0					19																	39964966		2203	4300	6503	SO:0001583	missense	6829	4	121412	34				g.chr19:39964966C>T	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.2744C>T	chr19.hg19:g.39964966C>T	ENSP00000470252:p.Ala915Val	0		OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V	p.A915V			1	2	3	2.010022	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)	28	3111	+	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)		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	1	1	hg19	c.2744C>T	CCDS12536.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898806	0.72639	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.056626	0.64402	D	0.000002	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D;D	0.61697	0.977;0.986;0.99	B;P;P	0.54431	0.269;0.752;0.57	T	0.67764	-0.5586	8	.	.	.	-28.4569	16.8495	0.85990	0.0:1.0:0.0:0.0	.	707;911;915	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	V	915;911;893;915	.	.	A	+	2	0	0	SUPT5H	44656806	44656806	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	5.707000	0.68370	2.515000	0.84797	0.462000	0.41574	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	0	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_003169			64	61		262	251	1		1	1		0	0	64	0		1	1	0	22	0	368	0	64	262
PIAS4	51588	broad.mit.edu	37	19	4028840	4028840	+	Silent	SNP	C	C	T	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	265	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687																																						ENST00000262971.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(793-795)taC>taT		protein inhibitor of activated STAT, 4		C		0,4406		0,0,2203	90.0	79.0	82.0		795	-4.4	1.0	19	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		265/511	4028840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51588	35	121360	45				g.chr19:4028840C>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.795C>T	chr19.hg19:g.4028840C>T		0						p.Y265Y	NM_015897.2	NP_056981.2	1	2	3	2.010022	Q8N2W9	PIAS4_HUMAN		6	910	+			O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	1	1	hg19	c.795C>T	CCDS12118.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-5.013329	1	0.170000	NM_015897			49	48		269	263	0		1	1		0	0	49	0		1	9.999999e-01	0	41	0	95	0	49	269
TIMM50	92609	broad.mit.edu	37	19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000607714.1	+	2	205	c.183C>A	c.(181-183)agC>agA	p.S61R	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000314349.4_Missense_Mutation_p.S164R			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	61					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)			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)			AGGGTCCCAGCTATGCCAAAA	0.622																																						ENST00000607714.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(181-183)agC>agA		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							109.0	118.0	115.0					19																	39972597		2203	4300	6503	SO:0001583	missense	92609	0	0					g.chr19:39972597C>A	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.183C>A	chr19.hg19:g.39972597C>A	ENSP00000475531:p.Ser61Arg	0					TIMM50_ENST00000314349.4_Missense_Mutation_p.S164R|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron	p.S61R			1	2	3	2.010022	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)	2	205	+	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)		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	1	1	hg19	c.183C>A		1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888964	0.72524	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.65	2.53	0.30540	4.65	2.53	0.30540	.	0.110348	0.64402	D	0.000009	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.49418	-0.8942	8	.	.	.	-24.6103	8.1279	0.31010	0.0:0.735:0.0:0.265	.	164	Q3ZCQ8-2	.	R	164	.	.	S	+	3	2	2	TIMM50	44664437	44664437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.156000	0.31712	0.578000	0.29487	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-20.000000	1	0.170000	NM_001001563			173	171		684	676	1		1	1		0	0	117	0		1	1	0	29	0	78	0	173	684
DYRK1B	9149	broad.mit.edu	37	19	40316646	40316646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000348817.3_Silent_p.S505S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000430012.2_Silent_p.S493S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	533					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CAGGCAGTGACGAGGCAGAGG	0.652																																						ENST00000593685.1	1.000000	0.380000	8.600000e-01	4.900000e-01	0.640000	0.674306	0.640000	0.610000																										0				24						c.(1597-1599)tcG>tcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							18.0	23.0	21.0					19																	40316646		2154	4237	6391	SO:0001819	synonymous_variant	9149	1	117594	36				g.chr19:40316646C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1599G>A	chr19.hg19:g.40316646C>T		0					DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000348817.3_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S	p.S533S			1	2	3	2.010022	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	11	2067	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	1	1	hg19	c.1599G>A	CCDS12543.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-18.304570	1	0.170000	NM_004714			16	16		289	275	0		1	1		0	0	44	0		9.999113e-01	7.988819e-01	0	2	0	54	0	16	289
DYRK1B	9149	broad.mit.edu	37	19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	504	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TACCTGGGGGCTGTTCATCTC	0.597																																						ENST00000593685.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1510-1512)aGc>aTc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							46.0	50.0	49.0					19																	40316827		2203	4300	6503	SO:0001583	missense	9149	0	0					g.chr19:40316827C>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1511G>T	chr19.hg19:g.40316827C>A	ENSP00000469863:p.Ser504Ile	0					DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I	p.S504I			1	2	3	2.010022	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	10	1979	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	1	1	hg19	c.1511G>T	CCDS12543.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141557	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59502	0.26;0.3;0.26	4.18	4.18	0.49190	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.69250	-0.5194	10	0.72032	D	0.01	.	14.0031	0.64446	0.0:1.0:0.0:0.0	.	464;504;476	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	I	504;476;464	ENSP00000312789:S504I;ENSP00000221803:S476I;ENSP00000403182:S464I	ENSP00000312789:S504I	S	-	2	0	0	DYRK1B	45008667	45008667	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.875000	0.75551	1.847000	0.53656	0.462000	0.41574	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	0	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_004714			68	65		297	290	1		1	1		0	0	75	0		1	9.999986e-01	0	26	0	62	0	68	297
DYRK1B	9149	broad.mit.edu	37	19	40318000	40318000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000430012.2_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GAGCCTTGGGCGCCTGGTCCA	0.642																																						ENST00000593685.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998652	0.990000	1.000000																										0				24						c.(1018-1020)gcG>gcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							43.0	44.0	43.0					19																	40318000		2203	4300	6503	SO:0001819	synonymous_variant	9149	4	121408	35				g.chr19:40318000C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1020G>A	chr19.hg19:g.40318000C>T		0					DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A	p.A340A			1	2	3	2.010022	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	8	1488	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	1	1	hg19	c.1020G>A	CCDS12543.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-15.726380	1	0.170000	NM_004714			39	36		299	294	1		1	1		0	0	35	0		1	9.928854e-01	0	12	0	49	0	39	299
DYRK1B	9149	broad.mit.edu	37	19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGCTGCTGCGCCAGCTTCCGG	0.597																																						ENST00000593685.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				24						c.(652-654)Gcg>Acg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							70.0	65.0	66.0					19																	40319092		2203	4300	6503	SO:0001583	missense	9149	0	0					g.chr19:40319092C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.652G>A	chr19.hg19:g.40319092C>T	ENSP00000469863:p.Ala218Thr	0					DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T	p.A218T			1	2	3	2.010022	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	6	1120	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	1	1	hg19	c.652G>A	CCDS12543.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.058047	0.93846	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.67698	-0.28;-0.28;-0.28	5.95	5.95	0.96441	5.95	5.95	0.96441	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	0.73953	0.3653	L	0.35288	1.05	0.80722	D	1	D;D;D	0.71674	0.969;0.98;0.998	P;D;D	0.74023	0.835;0.917;0.982	T	0.69807	-0.5045	10	0.31617	T	0.26	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	218;218;218	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	218	ENSP00000312789:A218T;ENSP00000221803:A218T;ENSP00000403182:A218T	ENSP00000312789:A218T	A	-	1	0	0	DYRK1B	45010932	45010932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_004714			23	23		102	101	1		1	1		0	0	15	0		9.999997e-01	9.999956e-01	0	26	0	72	0	23	102
FBL	2091	broad.mit.edu	37	19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	DYRK1B_ENST00000323039.5_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000601972.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	235					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGCCACATCAGCAAAGATCAC	0.537																																						ENST00000221801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(703-705)gCt>gAt		fibrillarin							106.0	88.0	94.0					19																	40327287		2203	4300	6503	SO:0001583	missense	2091	0	0					g.chr19:40327287G>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.704C>A	chr19.hg19:g.40327287G>T	ENSP00000221801:p.Ala235Asp	0					DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|FBL_ENST00000593503.1_5'UTR	p.A235D	NM_001436.3	NP_001427.2	1	2	3	2.010022	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	7	817	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	1	1	hg19	c.704C>A	CCDS12545.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605171	0.87157	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	H	0.95294	3.65	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.69479	0.919;0.964	D	0.90595	0.4540	9	0.87932	D	0	-10.8703	15.0249	0.71663	0.0:0.0:1.0:0.0	.	174;235	Q96BS4;P22087	.;FBRL_HUMAN	D	235	.	ENSP00000221801:A235D	A	-	2	0	0	FBL	45019127	45019127	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.416000	0.97383	2.123000	0.65237	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.419520	1	0.170000	NM_001436			49	49		209	202	1		1	1		0	0	46	0		1	1	0	335	0	731	0	49	209
PIAS4	51588	broad.mit.edu	37	19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	356					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677																																						ENST00000262971.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999884	0.990000	1.000000																										0				17						c.(1066-1068)aTg>aCg		protein inhibitor of activated STAT, 4							42.0	37.0	39.0					19																	4033503		2194	4298	6492	SO:0001583	missense	51588	0	0					g.chr19:4033503T>C	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1067T>C	chr19.hg19:g.4033503T>C	ENSP00000262971:p.Met356Thr	0						p.M356T	NM_015897.2	NP_056981.2	1	2	3	2.010022	Q8N2W9	PIAS4_HUMAN		9	1182	+			O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	1	1	hg19	c.1067T>C	CCDS12118.1	1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928367	0.73327	.	.	ENSG00000105229	ENST00000262971	T	0.16073	2.37	4.21	4.21	0.49690	4.21	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.58969	1.84	0.80722	D	1	D	0.55172	0.97	P	0.62813	0.907	T	0.09207	-1.0685	10	0.87932	D	0	-46.3971	12.4927	0.55909	0.0:0.0:0.0:1.0	.	356	Q8N2W9	PIAS4_HUMAN	T	356	ENSP00000262971:M356T	ENSP00000262971:M356T	M	+	2	0	0	PIAS4	3984503	3984503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.952000	0.87827	1.547000	0.49401	0.459000	0.35465	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_015897			15	15		55	55	1		1	1		0	0	16	0		9.999338e-01	9.995414e-01	0	18	0	36	0	15	55
FBL	2091	broad.mit.edu	37	19	40331285	40331285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	51	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662																																						ENST00000221801.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(151-153)ggC>ggT		fibrillarin							18.0	21.0	20.0					19																	40331285		2201	4299	6500	SO:0001819	synonymous_variant	2091	0	0					g.chr19:40331285G>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.153C>T	chr19.hg19:g.40331285G>A		0					FBL_ENST00000593503.1_5'Flank	p.G51G	NM_001436.3	NP_001427.2	1	2	3	2.010022	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	2	266	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	1	1	hg19	c.153C>T	CCDS12545.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	0	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-2.677920	1	0.170000	NM_001436			33	30		148	137	1		1	0		0	0	22	0		1	3.829961e-01	0	1	0	6	0	33	148
FCGBP	8857	broad.mit.edu	37	19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5384	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			TGGGAGTCATGCCAATCATTG	0.547																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(16150-16152)Cat>Tat		Fc fragment of IgG binding protein							93.0	79.0	84.0					19																	40354319		2203	4300	6503	SO:0001583	missense	8857	0	0					g.chr19:40354319G>A	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.16150C>T	chr19.hg19:g.40354319G>A	ENSP00000221347:p.His5384Tyr	0						p.H5384Y	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	35	16157	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.16150C>T	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.472442	0.00167	.	.	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.73	-0.618	0.11576	4.73	-0.618	0.11576	von Willebrand factor, type D domain (3);	2.516040	0.02440	N	0.084491	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.24701	0.055	T	0.14476	-1.0471	10	0.16896	T	0.51	.	4.2223	0.10563	0.0836:0.1329:0.5119:0.2716	.	5384	Q9Y6R7	FCGBP_HUMAN	Y	5384	ENSP00000221347:H5384Y	ENSP00000221347:H5384Y	H	-	1	0	0	FCGBP	45046159	45046159	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	1.152000	0.31663	0.123000	0.18342	-0.444000	0.05651	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_003890			52	51		207	200	1		1	1		0	0	47	0		1	1	0	80	0	137	0	52	207
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			TTGGAGTCAACGTCACCATCC	0.542																																						ENST00000221347.6	1.000000	0.840000	1	9.900000e-01	0.990000	0.987764	0.990000	1.000000																										0				165						c.(15910-15912)acG>acA		Fc fragment of IgG binding protein							134.0	127.0	129.0					19																	40357401		2203	4300	6503	SO:0001819	synonymous_variant	8857	1	121412	24				g.chr19:40357401C>T	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.15912G>A	chr19.hg19:g.40357401C>T		0						p.T5304T	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	34	15919	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Silent	SNP	ENST00000221347.6	1	1	hg19	c.15912G>A	CCDS12546.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-12.008420	1	0.170000	NM_003890			32	31		287	283	1		1	1		0	0	63	0		1	9.999939e-01	0	34	0	135	0	32	287
FCGBP	8857	broad.mit.edu	37	19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A	rs371919834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5288	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			CACAGCCTCCGTTTTGCCATG	0.547																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(15862-15864)aCg>aTg		Fc fragment of IgG binding protein		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	112.0	105.0	107.0		15863	-8.9	0.0	19		107	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	5288/5406	40357450	1,13005	2203	4300	6503	SO:0001583	missense	8857	4	121412	38				g.chr19:40357450G>A	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.15863C>T	chr19.hg19:g.40357450G>A	ENSP00000221347:p.Thr5288Met	0						p.T5288M	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	34	15870	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.15863C>T	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082636	0.36758	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60424	0.19	4.45	-8.91	0.00778	4.45	-8.91	0.00778	von Willebrand factor, type D domain (3);	3.408990	0.02289	U	0.070141	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.59177	-0.7503	10	0.36615	T	0.2	.	5.0479	0.14494	0.1611:0.0:0.5152:0.3237	.	5288	Q9Y6R7	FCGBP_HUMAN	M	5288	ENSP00000221347:T5288M	ENSP00000221347:T5288M	T	-	2	0	0	FCGBP	45049290	45049290	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.973000	0.01500	-2.355000	0.00614	-1.261000	0.01458	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_003890			71	70		232	227	1		1	1		0	0	56	0		1	1	0	48	0	115	0	71	232
FCGBP	8857	broad.mit.edu	37	19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5280	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			ATCTGGACTTCGGCAACTACA	0.577																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(15838-15840)Gaa>Aaa		Fc fragment of IgG binding protein							108.0	100.0	103.0					19																	40357475		2203	4300	6503	SO:0001583	missense	8857	0	0					g.chr19:40357475C>T	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.15838G>A	chr19.hg19:g.40357475C>T	ENSP00000221347:p.Glu5280Lys	0						p.E5280K	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	34	15845	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.15838G>A	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586176	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.45	3.42	0.39159	4.45	3.42	0.39159	von Willebrand factor, type D domain (3);	0.479844	0.13730	U	0.366800	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56788	0.806	T	0.24404	-1.0161	10	0.20046	T	0.44	.	8.1844	0.31330	0.0:0.8913:0.0:0.1087	.	5280	Q9Y6R7	FCGBP_HUMAN	K	5280	ENSP00000221347:E5280K	ENSP00000221347:E5280K	E	-	1	0	0	FCGBP	45049315	45049315	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.529000	0.35996	1.103000	0.41568	-0.136000	0.14681	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_003890			58	55		246	243	1		1	1		0	0	64	0		1	1	0	117	0	126	0	58	246
FCGBP	8857	broad.mit.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			CGGAGCTGCCCGCAGGCCTCG	0.672																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(15151-15153)Ggg>Agg		Fc fragment of IgG binding protein							46.0	53.0	50.0					19																	40362919		2203	4299	6502	SO:0001583	missense	8857	0	0					g.chr19:40362919C>T	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.15151G>A	chr19.hg19:g.40362919C>T	ENSP00000221347:p.Gly5051Arg	0						p.G5051R	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	32	15158	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.15151G>A	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031002	0.54790	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.84	4.84	0.62591	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.87861	0.6284	M	0.82517	2.595	0.40004	D	0.975208	D	0.89917	1.0	D	0.97110	1.0	D	0.87291	0.2299	10	0.33141	T	0.24	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	R	5051	ENSP00000221347:G5051R	ENSP00000221347:G5051R	G	-	1	0	0	FCGBP	45054759	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-3.302760	1	0.170000	NM_003890			145	143		513	508	1		1	1		0	0	86	0		1	9.999874e-01	0	14	0	45	0	145	513
PIAS4	51588	broad.mit.edu	37	19	4037768	4037768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	476	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701																																						ENST00000262971.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				17						c.(1426-1428)tcG>tcA		protein inhibitor of activated STAT, 4							17.0	16.0	16.0					19																	4037768		2188	4284	6472	SO:0001819	synonymous_variant	51588	2	120754	39				g.chr19:4037768G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1428G>A	chr19.hg19:g.4037768G>A		0						p.S476S	NM_015897.2	NP_056981.2	1	2	3	2.010022	Q8N2W9	PIAS4_HUMAN		11	1543	+			O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	1	1	hg19	c.1428G>A	CCDS12118.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015897			19	17		74	73	1		1	1		0	0	18	0		9.999942e-01	8.806018e-01	0	6	0	11	0	19	74
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A	rs572540106	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			CAGGGCCCTCGTACTGCTCCA	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		15797	0.003		0.0	False		,,,				2504	0.0					ENST00000221347.6	1.000000	0.310000	6.500000e-01	3.900000e-01	0.500000	0.543412	0.500000	0.480000																										0				165						c.(12820-12822)taC>taT		Fc fragment of IgG binding protein							44.0	45.0	45.0					19																	40368526		2203	4294	6497	SO:0001819	synonymous_variant	8857	18	121312	45				g.chr19:40368526G>A	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.12822C>T	chr19.hg19:g.40368526G>A		0						p.Y4274Y	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	28	12829	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Silent	SNP	ENST00000221347.6	0	1	hg19	c.12822C>T	CCDS12546.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0		2	2	2	0		0	0	72		72	99	1	2.060000	-19.675930	1	0.170000	NM_003890			21	6		491	294	0		1	0		0	0	72	0		9.996809e-01	2.423060e-01	0	1	0	21	0	21	491
FCGBP	8857	broad.mit.edu	37	19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3179	TIL 7.					extracellular vesicular exosome (GO:0070062)				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)			CCCTCACATACGGCTGGCGTC	0.652																																						ENST00000221347.6	1.000000	0.800000	1	8.900000e-01	0.990000	0.960350	0.990000	1.000000																										0				165						c.(9535-9537)Gta>Ata		Fc fragment of IgG binding protein																																				SO:0001583	missense	8857	91	119160	43				g.chr19:40384075C>T	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.9535G>A	chr19.hg19:g.40384075C>T	ENSP00000221347:p.Val3179Ile	0						p.V3179I	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	21	9542	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.9535G>A	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108219	0.20714	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	3.01	-2.27	0.06846	3.01	-2.27	0.06846	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.66790	0.2825	N	0.21583	0.68	0.09310	N	1	P	0.47910	0.902	P	0.49361	0.608	T	0.59295	-0.7481	9	0.22706	T	0.39	.	8.5511	0.33451	0.0:0.5821:0.2724:0.1455	.	3179	Q9Y6R7	FCGBP_HUMAN	I	3179	ENSP00000221347:V3179I	ENSP00000221347:V3179I	V	-	1	0	0	FCGBP	45075915	45075915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.723000	0.01866	-0.364000	0.08088	-0.723000	0.03601	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	1		2	2	2	0		0	0	153		153	199	1	2.060000	-3.221883	1	0.170000	NM_003890			83	53		910	582	0		1			0	0	153	0		1	0	0	0	0	0	0	83	910
FCGBP	8857	broad.mit.edu	37	19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1375	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			ACGGTGACCCGCACATAGTAC	0.582																																						ENST00000221347.6	1.000000	0.910000	1	9.900000e-01	0.990000	0.994553	0.990000	1.000000																										0				165						c.(4123-4125)Cgg>Tgg		Fc fragment of IgG binding protein							108.0	93.0	98.0					19																	40408716		2203	4300	6503	SO:0001583	missense	8857	1	121412	33				g.chr19:40408716G>A	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.4123C>T	chr19.hg19:g.40408716G>A	ENSP00000221347:p.Arg1375Trp	0						p.R1375W	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	8	4130	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.4123C>T	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073992	0.36566	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.91	1.21	0.21127	4.91	1.21	0.21127	von Willebrand factor, type D domain (3);	0.310015	0.25291	N	0.031721	T	0.43831	0.1265	L	0.60067	1.865	0.27621	N	0.94833	B	0.30851	0.297	B	0.25140	0.058	T	0.35051	-0.9804	10	0.45353	T	0.12	.	3.2293	0.06742	0.0867:0.1356:0.3748:0.403	.	1375	Q9Y6R7	FCGBP_HUMAN	W	1375	ENSP00000221347:R1375W	ENSP00000221347:R1375W	R	-	1	2	2	FCGBP	45100556	45100556	0.000000	0.05858	0.992000	0.48379	0.492000	0.33523	-0.080000	0.11339	0.460000	0.27045	0.644000	0.83932	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1		2	2	2	0		0	0	70		70	71	1	2.060000	-3.221884	1	0.170000	NM_003890			44	40		384	362	0		1	1		0	0	70	0		1	6.530145e-01	0	2	0	19	0	44	384
FCGBP	8857	broad.mit.edu	37	19	40411738	40411738	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	ENST00000221347.6	-	7	3897	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1297	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			CCAGGCCACGTTCTCCTGCAG	0.637																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(3889-3891)aAc>aGc		Fc fragment of IgG binding protein							56.0	56.0	56.0					19																	40411738		2202	4276	6478	SO:0001583	missense	8857	0	0					g.chr19:40411738T>C	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.3890A>G	chr19.hg19:g.40411738T>C	ENSP00000221347:p.Asn1297Ser	0						p.N1297S	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	7	3897	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	0	1	hg19	c.3890A>G	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235974	0.58886	.	.	ENSG00000090920	ENST00000221347	T	0.59638	0.25	4.54	4.54	0.55810	4.54	4.54	0.55810	von Willebrand factor, type D domain (3);	0.060710	0.64402	D	0.000007	T	0.73783	0.3631	M	0.84156	2.68	0.37472	D	0.915654	D	0.89917	1.0	D	0.87578	0.998	T	0.75207	-0.3399	10	0.12766	T	0.61	.	12.9805	0.58562	0.0:0.0:0.0:1.0	.	1297	Q9Y6R7	FCGBP_HUMAN	S	1297	ENSP00000221347:N1297S	ENSP00000221347:N1297S	N	-	2	0	0	FCGBP	45103578	45103578	1.000000	0.71417	0.879000	0.34478	0.915000	0.54546	7.407000	0.80029	1.917000	0.55516	0.358000	0.22013	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	1		2	2	2	0		0	0	97		97	177	1	2.060000	-20.000000	1	0.170000	NM_003890			84	76		452	388	0		1	0		0	0	97	0		1	6.750266e-02	0	1	0	2	0	84	452
FCGBP	8857	broad.mit.edu	37	19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	863	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			CCCTGGCAGGTCCCGAAGCGA	0.682																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				165						c.(2587-2589)Acc>Gcc		Fc fragment of IgG binding protein							20.0	21.0	20.0					19																	40421334		2199	4298	6497	SO:0001583	missense	8857	0	0					g.chr19:40421334T>C	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.2587A>G	chr19.hg19:g.40421334T>C	ENSP00000221347:p.Thr863Ala	0						p.T863A	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	5	2594	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.2587A>G	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436705	0.43224	.	.	ENSG00000090920	ENST00000221347	T	0.21191	2.02	4.06	4.06	0.47325	4.06	4.06	0.47325	von Willebrand factor, type D domain (2);	0.536654	0.16074	N	0.230839	T	0.36771	0.0979	M	0.91872	3.25	0.24075	N	0.995967	B	0.29571	0.249	B	0.37601	0.254	T	0.35968	-0.9767	10	0.18710	T	0.47	.	12.4173	0.55500	0.0:0.0:0.0:1.0	.	863	Q9Y6R7	FCGBP_HUMAN	A	863	ENSP00000221347:T863A	ENSP00000221347:T863A	T	-	1	0	0	FCGBP	45113174	45113174	0.001000	0.12720	0.092000	0.20876	0.195000	0.23768	0.973000	0.29422	1.845000	0.53610	0.402000	0.26972	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_003890			19	18		78	78	1		1	1		0	0	14	0		9.999952e-01	2.687379e-01	0	2	0	3	0	19	78
FCGBP	8857	broad.mit.edu	37	19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	678	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			ATCGAGCTTGGTCAGCATGCC	0.632																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(2032-2034)aCc>aTc		Fc fragment of IgG binding protein							198.0	186.0	190.0					19																	40424170		2203	4300	6503	SO:0001583	missense	8857	1	121412	35				g.chr19:40424170G>A	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.2033C>T	chr19.hg19:g.40424170G>A	ENSP00000221347:p.Thr678Ile	0						p.T678I	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	4	2040	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.2033C>T	CCDS12546.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987085	0.35036	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	5.34	4.22	0.49857	5.34	4.22	0.49857	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.350163	0.20395	N	0.093180	T	0.77532	0.4144	L	0.57130	1.785	0.27972	N	0.936382	P	0.37370	0.592	B	0.41174	0.349	T	0.74426	-0.3669	10	0.51188	T	0.08	.	15.8228	0.78673	0.0:0.187:0.813:0.0	.	678	Q9Y6R7	FCGBP_HUMAN	I	678	ENSP00000221347:T678I	ENSP00000221347:T678I	T	-	2	0	0	FCGBP	45116010	45116010	0.003000	0.15002	0.951000	0.38953	0.604000	0.37047	0.458000	0.21892	2.506000	0.84524	0.650000	0.86243	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1		2	2	2	0		0	0	211		211	206	1	2.060000	-20.000000	1	0.170000	NM_003890			271	265		1177	1159	1		1	1		0	0	211	0		1	8.543502e-01	0	6	0	11	0	271	1177
FCGBP	8857	broad.mit.edu	37	19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A	rs368039528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	366	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				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)			CCCGCTGATAGCCTTCGTCTG	0.617																																						ENST00000221347.6	1.000000	0.460000	1	6.000000e-01	0.770000	0.782720	0.770000	1.000000																										0				165						c.(1096-1098)gCt>gTt		Fc fragment of IgG binding protein		G	VAL/ALA	1,4405		0,1,2202	111.0	82.0	92.0		1097	0.9	0.0	19		92	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	366/5406	40433172	1,13005	2203	4300	6503	SO:0001583	missense	8857	0	0					g.chr19:40433172G>A	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.1097C>T	chr19.hg19:g.40433172G>A	ENSP00000221347:p.Ala366Val	0						p.A366V	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	2	1104	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Missense_Mutation	SNP	ENST00000221347.6	1	1	hg19	c.1097C>T	CCDS12546.1	0	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962481	0.53400	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.36	0.89	0.19218	4.36	0.89	0.19218	.	0.618007	0.13024	N	0.419844	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.42386	0.386	T	0.17806	-1.0357	10	0.56958	D	0.05	.	7.6149	0.28152	0.0814:0.0:0.6274:0.2912	.	366	Q9Y6R7	FCGBP_HUMAN	V	366	ENSP00000221347:A366V	ENSP00000221347:A366V	A	-	2	0	0	FCGBP	45125012	45125012	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.378000	0.20569	0.305000	0.22832	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-19.852500	1	0.170000	NM_003890			17	17		252	252	1		1	1		0	0	47	0		9.999697e-01	2.633206e-01	0	6	0	9	0	17	252
FCGBP	8857	broad.mit.edu	37	19	40433216	40433216	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	351	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				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)			CACAGCCTGGTACACTCTTGA	0.592																																						ENST00000221347.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				165						c.(1051-1053)gtA>gtG		Fc fragment of IgG binding protein							73.0	59.0	64.0					19																	40433216		2203	4300	6503	SO:0001819	synonymous_variant	8857	0	0					g.chr19:40433216T>C	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.1053A>G	chr19.hg19:g.40433216T>C		0						p.V351V	NM_003890.2	NP_003881.2	1	2	3	2.010022	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)	2	1060	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		O95784	Silent	SNP	ENST00000221347.6	1	1	hg19	c.1053A>G	CCDS12546.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_003890			36	36		206	201	1		1	1		0	0	40	0		1	6.792199e-01	0	11	0	4	0	36	206
PSMC4	5704	broad.mit.edu	37	19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	192					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)			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)					GAGCTCTACAAGCAGGTGAGG	0.617																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(574-576)aAg>aGg		proteasome (prosome, macropain) 26S subunit, ATPase, 4							49.0	53.0	51.0					19																	40480536		2203	4300	6503	SO:0001583	missense	5704	2	121412	31				g.chr19:40480536A>G	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.575A>G	chr19.hg19:g.40480536A>G	ENSP00000157812:p.Lys192Arg	0					PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	p.K192R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	1	2	3	2.010022	P43686	PRS6B_HUMAN		5	773	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	1	1	hg19	c.575A>G	CCDS12547.1	1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927663	0.52759	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.047137	0.85682	D	0.000000	D	0.88001	0.6320	N	0.11845	0.185	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	D	0.83962	0.0322	10	0.39692	T	0.17	-7.8807	12.9876	0.58599	1.0:0.0:0.0:0.0	.	161;192	P43686-2;P43686	.;PRS6B_HUMAN	R	192;161	ENSP00000157812:K192R;ENSP00000413869:K161R	ENSP00000157812:K192R	K	+	2	0	0	PSMC4	45172376	45172376	1.000000	0.71417	0.900000	0.35374	0.768000	0.43524	8.970000	0.93415	1.948000	0.56530	0.402000	0.26972	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	0	0	1		22	28	2	1		1	1	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_006503			59	59		304	301	1		1	1		1	0	52	0		9.999967e-01	9.999999e-01	0	138	0	367	0	59	304
PSMC4	5704	broad.mit.edu	37	19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	276					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)			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)					CAAGAGATTCGATGCTCAGAC	0.582																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(826-828)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							70.0	67.0	68.0					19																	40485876		2203	4300	6503	SO:0001583	missense	5704	0	0					g.chr19:40485876G>A	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.826G>A	chr19.hg19:g.40485876G>A	ENSP00000157812:p.Asp276Asn	0					PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	p.D276N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	1	2	3	2.010022	P43686	PRS6B_HUMAN		7	1024	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	1	1	hg19	c.826G>A	CCDS12547.1	1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327241	0.60743	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	5.92	4.89	0.63831	5.92	4.89	0.63831	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.723;0.999	D	0.95885	0.8902	10	0.72032	D	0.01	-5.2356	12.746	0.57281	0.079:0.0:0.921:0.0	.	245;276	P43686-2;P43686	.;PRS6B_HUMAN	N	276;245	ENSP00000157812:D276N;ENSP00000413869:D245N	ENSP00000157812:D276N	D	+	1	0	0	PSMC4	45177716	45177716	1.000000	0.71417	0.711000	0.30485	0.045000	0.14185	9.588000	0.98232	1.517000	0.48917	0.561000	0.74099	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_006503			42	42		136	133	1		1	1		0	0	34	0		1	1	0	191	0	413	0	42	136
PSMC4	5704	broad.mit.edu	37	19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|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)			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)					GAATCAGATGGATGGATTTGA	0.552																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2	1.000000	0.240000	6.400000e-01	3.300000e-01	0.450000	0.503137	0.450000	0.420000																										0				19						c.(889-891)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							163.0	158.0	159.0					19																	40486024		2203	4300	6503	SO:0001583	missense	5704	0	0					g.chr19:40486024G>A	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.889G>A	chr19.hg19:g.40486024G>A	ENSP00000157812:p.Asp297Asn	0					PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	p.D297N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	1	2	3	2.010022	P43686	PRS6B_HUMAN		8	1087	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	1	1	hg19	c.889G>A	CCDS12547.1	0	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319831	0.81469	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95918	-3.85;-3.85	6.06	6.06	0.98353	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98674	1.0689	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	N	297;266	ENSP00000157812:D297N;ENSP00000413869:D266N	ENSP00000157812:D297N	D	+	1	0	0	PSMC4	45177864	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.725354	1	0.170000	NM_006503			12	12		317	308	0		1	1		0	0	52	0		9.990043e-01	9.999769e-01	0	41	0	509	0	12	317
PSMC4	5704	broad.mit.edu	37	19	40486618	40486618	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	379					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)			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)					ACTCCATCTGTCAGGAGGTAA	0.532																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1135-1137)tgT>tgC		proteasome (prosome, macropain) 26S subunit, ATPase, 4							140.0	135.0	137.0					19																	40486618		2203	4300	6503	SO:0001819	synonymous_variant	5704	0	0					g.chr19:40486618T>C	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.1137T>C	chr19.hg19:g.40486618T>C		0					PSMC4_ENST00000455878.2_Silent_p.C348C	p.C379C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	1	2	3	2.010022	P43686	PRS6B_HUMAN		10	1335	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	1	1	hg19	c.1137T>C	CCDS12547.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_006503			78	73		468	455	0		1	1		0	0	128	0		1	1	0	230	0	433	0	78	468
ZNF546	339327	broad.mit.edu	37	19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(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)					TCAAATCATTCCTCTGCACTC	0.403																																						ENST00000347077.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.984604	0.990000	1.000000																										0				34						c.(61-63)Cct>Tct		zinc finger protein 546							96.0	93.0	94.0					19																	40504294		2203	4300	6503	SO:0001583	missense	339327	0	0					g.chr19:40504294C>T	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.61C>T	chr19.hg19:g.40504294C>T	ENSP00000339823:p.Pro21Ser	0					ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	p.P21S	NM_178544.3	NP_848639.2	1	2	3	2.010022	Q86UE3	ZN546_HUMAN		3	277	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		A8K913	Missense_Mutation	SNP	ENST00000347077.4	1	1	hg19	c.61C>T	CCDS12548.1	1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459971	0.12342	.	.	ENSG00000187187	ENST00000347077	T	0.05855	3.38	1.66	-2.3	0.06785	1.66	-2.3	0.06785	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.21540	T	0.41	.	2.7014	0.05149	0.0:0.3319:0.2577:0.4104	.	21	Q86UE3	ZN546_HUMAN	S	21	ENSP00000339823:P21S	ENSP00000339823:P21S	P	+	1	0	0	ZNF546	45196134	45196134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.425000	0.07017	-0.575000	0.05982	-0.142000	0.14014	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_178544			23	22		201	199	0		1	0		0	0	64	0		9.999995e-01	0	0	0	0	1	0	23	201
ZNF546	339327	broad.mit.edu	37	19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	83	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)			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)					GTGCAGAGGGACTTGTACAAG	0.458																																						ENST00000347077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(247-249)gAc>gGc		zinc finger protein 546							150.0	128.0	135.0					19																	40513257		2203	4300	6503	SO:0001583	missense	339327	0	0					g.chr19:40513257A>G	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.248A>G	chr19.hg19:g.40513257A>G	ENSP00000339823:p.Asp83Gly	0					ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G	p.D83G	NM_178544.3	NP_848639.2	1	2	3	2.010022	Q86UE3	ZN546_HUMAN		5	464	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		A8K913	Missense_Mutation	SNP	ENST00000347077.4	1	1	hg19	c.248A>G	CCDS12548.1	1	.	.	.	.	.	.	.	.	.	.	a	8.936	0.964725	0.18583	.	.	ENSG00000187187	ENST00000347077	T	0.01838	4.61	2.83	0.492	0.16872	2.83	0.492	0.16872	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.61036	1.89	0.23962	N	0.996332	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.46062	-0.9218	9	0.23302	T	0.38	.	4.3135	0.10982	0.3651:0.4817:0.1532:0.0	.	57;83	B3KVL3;Q86UE3	.;ZN546_HUMAN	G	83	ENSP00000339823:D83G	ENSP00000339823:D83G	D	+	2	0	0	ZNF546	45205097	45205097	0.000000	0.05858	0.682000	0.30024	0.667000	0.39255	-1.491000	0.02302	-0.053000	0.13289	0.450000	0.29827	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_178544			77	75		335	329	1		1	1		0	0	87	0		1	4.610209e-01	0	4	0	4	0	77	335
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A	rs373735181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363																																						ENST00000347077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R619Q(1)	large_intestine(1)	34						c.(1855-1857)cGa>cAa		zinc finger protein 546		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	48.0	47.0		1856	1.8	0.1	19		47	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	619/837	40521033	1,13005	2203	4300	6503	SO:0001583	missense	339327	1	121412	36				g.chr19:40521033G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1856G>A	chr19.hg19:g.40521033G>A	ENSP00000339823:p.Arg619Gln	0					ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q	p.R619Q	NM_178544.3	NP_848639.2	1	2	3	2.010022	Q86UE3	ZN546_HUMAN		7	2072	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		A8K913	Missense_Mutation	SNP	ENST00000347077.4	1	1	hg19	c.1856G>A	CCDS12548.1	1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	0	ZNF546	45212873	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.574022	1	0.170000	NM_178544			45	44		168	168	1		1	1		0	0	53	0		1	7.103095e-01	0	2	0	9	0	45	168
ZNF780B	163131	broad.mit.edu	37	19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000434248.1	-	5	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	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)			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)					GTATAAGCAGGCATTTCTTCA	0.343																																						ENST00000434248.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(448-450)Cct>Act		zinc finger protein 780B							121.0	127.0	125.0					19																	40542318		2182	4288	6470	SO:0001583	missense	163131	0	0					g.chr19:40542318G>T	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.448C>A	chr19.hg19:g.40542318G>T	ENSP00000391641:p.Pro150Thr	0					ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	p.P150T	NM_001005851.2	NP_001005851.1	1	2	3	2.010022	Q9Y6R6	Z780B_HUMAN		5	513	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	1	1	hg19	c.448C>A	CCDS46077.1	1	.	.	.	.	.	.	.	.	.	.	G	3.475	-0.107085	0.06924	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06371	3.49;3.31	2.14	-0.299	0.12808	2.14	-0.299	0.12808	.	.	.	.	.	T	0.04272	0.0118	N	0.17345	0.48	0.09310	N	1	P	0.48764	0.915	B	0.43413	0.419	T	0.39603	-0.9606	9	0.72032	D	0.01	.	4.6214	0.12450	0.5191:0.0:0.4809:0.0	.	150	Q9Y6R6	Z780B_HUMAN	T	150;2	ENSP00000391641:P150T;ENSP00000221355:P2T	ENSP00000221355:P2T	P	-	1	0	0	ZNF780B	45234158	45234158	.	.	0.011000	0.14972	0.073000	0.16967	.	.	0.192000	0.20272	0.313000	0.20887	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_001005851			54	53		212	207	1		1	0		0	0	43	0		1	4.272319e-02	0	0	0	2	0	54	212
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000595687.2	-	6	1133	c.924G>A	c.(922-924)aaG>aaA	p.K308K	ZNF780A_ENST00000455521.1_Silent_p.K309K|ZNF780A_ENST00000450241.2_Silent_p.K274K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K308K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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.K274N(1)|p.K309N(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)					TCCCACATTCCTTACATACAA	0.388																																						ENST00000595687.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.K274N(1)|p.K309N(1)	lung(2)	31						c.(922-924)aaG>aaA		zinc finger protein 780A							174.0	169.0	171.0					19																	40581425		2203	4300	6503	SO:0001819	synonymous_variant	284323	0	0					g.chr19:40581425C>T	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.924G>A	chr19.hg19:g.40581425C>T		0					ZNF780A_ENST00000450241.2_Silent_p.K274K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000455521.1_Silent_p.K309K	p.K308K	NM_001010880.2	NP_001010880.2	1	2	3	2.010022	O75290	Z780A_HUMAN		6	1133	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	1	1	hg19	c.924G>A	CCDS33026.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-3.530410	1	0.170000	NM_001010880			168	162		691	677	0		1	0		0	0	153	0		1	6.630444e-01	0	0	0	11	0	168	691
MAP3K10	4294	broad.mit.edu	37	19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	620					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGGCAGAGGATGGAGGCAG	0.721																																						ENST00000253055.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1858-1860)Gat>Aat		mitogen-activated protein kinase kinase kinase 10							17.0	18.0	18.0					19																	40719444		2202	4295	6497	SO:0001583	missense	4294	0	0					g.chr19:40719444G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1858G>A	chr19.hg19:g.40719444G>A	ENSP00000253055:p.Asp620Asn	0						p.D620N	NM_002446.3	NP_002437.2	1	2	3	2.010022	Q02779	M3K10_HUMAN		9	2146	+			Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	1	1	hg19	c.1858G>A	CCDS12549.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822251	0.32237	.	.	ENSG00000130758	ENST00000253055	T	0.75367	-0.93	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.953020	0.08742	N	0.900357	T	0.69351	0.3101	L	0.36672	1.1	0.35487	D	0.798683	B	0.19817	0.039	B	0.21917	0.037	T	0.65796	-0.6081	10	0.49607	T	0.09	.	14.6516	0.68800	0.0:0.0:1.0:0.0	.	620	Q02779	M3K10_HUMAN	N	620	ENSP00000253055:D620N	ENSP00000253055:D620N	D	+	1	0	0	MAP3K10	45411284	45411284	0.663000	0.27448	0.671000	0.29857	0.238000	0.25445	1.213000	0.32407	2.040000	0.60383	0.313000	0.20887	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_002446			34	33		117	114	0		1	1		0	0	40	0		1	9.989176e-01	0	13	0	27	0	34	117
TTC9B	148014	broad.mit.edu	37	19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	77					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTTCTTCTCTCGATAGCAGCG	0.736																																						ENST00000311308.6	1.000000	0.400000	1	5.700000e-01	0.790000	0.784006	0.790000	1.000000																										0				5						c.(229-231)cGa>cAa		tetratricopeptide repeat domain 9B							32.0	28.0	29.0					19																	40724059		2202	4298	6500	SO:0001583	missense	148014	0	0					g.chr19:40724059C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.230G>A	chr19.hg19:g.40724059C>T	ENSP00000311760:p.Arg77Gln	0						p.R77Q	NM_152479.5	NP_689692.2	1	2	3	2.010022	Q8N6N2	TTC9B_HUMAN		1	247	-			A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	1	1	hg19	c.230G>A	CCDS12550.1	0	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829604	0.91036	.	.	ENSG00000174521	ENST00000311308	T	0.15718	2.4	4.46	4.46	0.54185	4.46	4.46	0.54185	Tetratricopeptide-like helical (1);	0.154213	0.43260	N	0.000583	T	0.15089	0.0364	L	0.42529	1.33	0.35092	D	0.764423	D	0.53312	0.959	B	0.42462	0.388	T	0.18241	-1.0343	10	0.52906	T	0.07	-4.3192	8.5051	0.33181	0.0:0.8921:0.0:0.1079	.	77	Q8N6N2	TTC9B_HUMAN	Q	77	ENSP00000311760:R77Q	ENSP00000311760:R77Q	R	-	2	0	0	TTC9B	45415899	45415899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.290000	0.65661	2.049000	0.60858	0.289000	0.19496	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.322669	1	0.170000	NM_152479			10	10		148	148	0		1			0	0	35	0		9.971750e-01	0	0	0	0	0	0	10	148
AKT2	208	broad.mit.edu	37	19	40743876	40743876	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831G>T	c.(829-831)aaG>aaT	p.K277N	AKT2_ENST00000579047.1_Splice_Site_p.K215N|AKT2_ENST00000424901.1_Splice_Site_p.K277N|AKT2_ENST00000311278.6_Splice_Site_p.K277N	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	277	Inhibitor binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCCACTAACCTTGATGTCGC	0.592			A		"""ovarian, pancreatic """																																	ENST00000392038.2	1.000000	0.660000	1	8.900000e-01	0.990000	0.959090	0.990000	1.000000				Dom	yes			Dom	yes		19	19q13.1-q13.2	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2				E	E			ovarian, pancreatic 		0				27						c.(829-831)aaG>aaT		v-akt murine thymoma viral oncogene homolog 2							111.0	76.0	88.0					19																	40743876		2203	4300	6503	SO:0001630	splice_region_variant	208	0	0					g.chr19:40743876C>A	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.831+1G>T	chr19.hg19:g.40743876C>A		0					AKT2_ENST00000311278.6_Splice_Site_p.K277N|AKT2_ENST00000424901.1_Splice_Site_p.K277N|AKT2_ENST00000579047.1_Splice_Site_p.K215N	p.K277N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	1	2	3	2.010022	P31751	AKT2_HUMAN	Lung(22;0.000499)	9	1129	-			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	0	1	hg19	c.831G>T	CCDS12552.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981905	0.93044	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	D;D;D	0.91124	-2.79;-2.79;-2.79	5.05	5.05	0.67936	5.05	5.05	0.67936	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	0.96824	0.8963	H	0.95224	3.64	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.997	D;D;D	0.79784	0.993;0.968;0.993	D	0.97672	1.0167	9	.	.	.	.	17.698	0.88286	0.0:1.0:0.0:0.0	.	215;277;277	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	277;178;277;277;97	ENSP00000375892:K277N;ENSP00000399532:K277N;ENSP00000309428:K277N	.	K	-	3	2	2	AKT2	45435716	45435716	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.585000	0.82584	2.778000	0.95560	0.655000	0.94253	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	0	0	1		2	2	2	0		0	0	27		27	20	1	2.060000	-19.222650	1	0.170000	NM_001626	Missense_Mutation		13	9		121	97	0		1	1		0	0	27	0		9.983489e-01	9.999987e-01	0	13	0	258	0	13	121
PLD3	23646	broad.mit.edu	37	19	40884077	40884077	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000409419.1_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	490					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687																																						ENST00000409587.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1468-1470)ctC>ctA		phospholipase D family, member 3							61.0	62.0	62.0					19																	40884077		2203	4299	6502	SO:0001819	synonymous_variant	23646	0	0					g.chr19:40884077C>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1470C>A	chr19.hg19:g.40884077C>A		0					PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L	p.L490L			1	2	3	2.010022	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)	13	1867	+			Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	1	1	hg19	c.1470C>A	CCDS33027.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.267700	1	0.170000	NM_012268			111	109		509	504	1		1	1		0	0	112	0		1	1	0	137	0	1022	0	111	509
HIPK4	147746	broad.mit.edu	37	19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	564					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637																																						ENST00000291823.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999330	0.990000	1.000000																										0				20						c.(1690-1692)Gac>Aac		homeodomain interacting protein kinase 4							19.0	21.0	20.0					19																	40885655		2201	4297	6498	SO:0001583	missense	147746	1	121348	20				g.chr19:40885655C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1690G>A	chr19.hg19:g.40885655C>T	ENSP00000291823:p.Asp564Asn	0						p.D564N	NM_144685.3	NP_653286.2	1	2	3	2.010022	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)	4	1974	-			A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	0	1	hg19	c.1690G>A	CCDS12555.1	1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760290	0.49468	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.12	3.01	0.34805	5.12	3.01	0.34805	.	0.210963	0.33110	N	0.005276	T	0.49983	0.1589	L	0.27053	0.805	0.33448	D	0.583264	B	0.13594	0.008	B	0.08055	0.003	T	0.55988	-0.8053	10	0.87932	D	0	.	7.9341	0.29920	0.0:0.8099:0.0:0.1901	.	564	Q8NE63	HIPK4_HUMAN	N	564;529	ENSP00000291823:D564N	ENSP00000291823:D564N	D	-	1	0	0	HIPK4	45577495	45577495	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	0.864000	0.27926	0.685000	0.31468	0.462000	0.41574	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-3.357581	1	0.170000	NM_144685			19	18		108	105	1		1			0	0	18	0		9.999925e-01	0	0	0	0	0	0	19	108
HIPK4	147746	broad.mit.edu	37	19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617																																						ENST00000291823.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(751-753)cGc>cAc		homeodomain interacting protein kinase 4							65.0	69.0	68.0					19																	40889760		2203	4300	6503	SO:0001583	missense	147746	1	121412	29				g.chr19:40889760C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.752G>A	chr19.hg19:g.40889760C>T	ENSP00000291823:p.Arg251His	0						p.R251H	NM_144685.3	NP_653286.2	1	2	3	2.010022	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)	2	1036	-			A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	1	1	hg19	c.752G>A	CCDS12555.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665394	0.88251	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20463	2.07	5.97	4.91	0.64330	5.97	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.442639	0.21619	N	0.071672	T	0.33381	0.0861	L	0.41415	1.275	0.29641	N	0.844739	D	0.63046	0.992	P	0.59643	0.861	T	0.17440	-1.0369	10	0.72032	D	0.01	.	13.5773	0.61881	0.1558:0.8442:0.0:0.0	.	251	Q8NE63	HIPK4_HUMAN	H	251;216	ENSP00000291823:R251H	ENSP00000291823:R251H	R	-	2	0	0	HIPK4	45581600	45581600	0.977000	0.34250	0.999000	0.59377	0.818000	0.46254	2.702000	0.47102	1.472000	0.48140	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_144685			66	64		332	325	1		1	0		0	0	77	0		1	2.840399e-02	0	0	0	2	0	66	332
HIPK4	147746	broad.mit.edu	37	19	40889978	40889978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637																																						ENST00000291823.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(532-534)tcG>tcA		homeodomain interacting protein kinase 4							62.0	59.0	60.0					19																	40889978		2203	4300	6503	SO:0001819	synonymous_variant	147746	0	0					g.chr19:40889978C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.534G>A	chr19.hg19:g.40889978C>T		0						p.S178S	NM_144685.3	NP_653286.2	1	2	3	2.010022	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)	2	818	-			A8K863|Q96M54	Silent	SNP	ENST00000291823.2	1	1	hg19	c.534G>A	CCDS12555.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_144685			85	85		373	368	1		1	0		0	0	97	0		1	9.240646e-02	0	0	0	3	0	85	373
HIPK4	147746	broad.mit.edu	37	19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607																																						ENST00000291823.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(148-150)cGc>cAc		homeodomain interacting protein kinase 4		C	HIS/ARG	0,4406		0,0,2203	166.0	141.0	149.0		149	2.8	0.9	19	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	HIPK4	NM_144685.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	50/617	40895661	1,13005	2203	4300	6503	SO:0001583	missense	147746	2	121412	36				g.chr19:40895661C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.149G>A	chr19.hg19:g.40895661C>T	ENSP00000291823:p.Arg50His	0						p.R50H	NM_144685.3	NP_653286.2	1	2	3	2.010022	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)	1	433	-			A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	1	1	hg19	c.149G>A	CCDS12555.1	1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692122	0.30052	0.0	1.16E-4	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	4.93	2.83	0.33086	4.93	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127834	0.36303	N	0.002673	T	0.45677	0.1354	N	0.25485	0.75	0.25777	N	0.984778	B	0.13145	0.007	B	0.14578	0.011	T	0.41270	-0.9518	10	0.56958	D	0.05	.	8.2578	0.31766	0.0:0.7512:0.0:0.2488	.	50	Q8NE63	HIPK4_HUMAN	H	50;15	ENSP00000291823:R50H	ENSP00000291823:R50H	R	-	2	0	0	HIPK4	45587501	45587501	0.006000	0.16342	0.928000	0.36995	0.676000	0.39594	0.548000	0.23314	0.697000	0.31718	-0.983000	0.02560	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_144685			106	105		752	739	1		1			0	0	123	0		1	0	0	0	0	0	0	106	752
PRX	57716	broad.mit.edu	37	19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597																																						ENST00000324001.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1399-1401)Gag>Tag		periaxin							78.0	89.0	85.0					19																	40902860		2203	4300	6503	SO:0001587	stop_gained	57716	0	0					g.chr19:40902860C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1399G>T	chr19.hg19:g.40902860C>A	ENSP00000326018:p.Glu467*	0					PRX_ENST00000291825.7_3'UTR	p.E467*	NM_181882.2	NP_870998.2	1	2	3	2.010022	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	7	1669	-			Q9BXL9|Q9HCF2	Nonsense_Mutation	SNP	ENST00000324001.7	0	1	hg19	c.1399G>T	CCDS33028.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699520	0.88830	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.14	3.08	0.35506	4.14	3.08	0.35506	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.25965	N	0.982578	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.9548	7.2074	0.25915	0.0:0.7304:0.1748:0.0948	.	.	.	.	X	467	.	ENSP00000326018:E467X	E	-	1	0	0	PRX	45594700	45594700	0.001000	0.12720	0.098000	0.21074	0.334000	0.28698	0.561000	0.23515	1.089000	0.41292	0.462000	0.41574	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	1		2	2	2	0		0	0	203		203	203	1	2.060000	-20.000000	1	0.170000	NM_020956			195	187		777	758	1		1	1		0	0	203	0		1	9.840624e-01	0	7	0	21	0	195	777
PRX	57716	broad.mit.edu	37	19	40903814	40903814	+	Missense_Mutation	SNP	C	C	T	rs142436391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40903814C>T	ENST00000324001.7	-	7	715	c.445G>A	c.(445-447)Gct>Act	p.A149T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	149	Arg/Lys-rich (basic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGGTCAGCGGGGACCCCC	0.637													C|||	10	0.00199681	0.0068	0.0	5008	,	,		14939	0.0		0.0	False		,,,				2504	0.001					ENST00000324001.7	1.000000	0.640000	1	8.800000e-01	0.990000	0.955958	0.990000	1.000000																										0				47						c.(445-447)Gct>Act		periaxin		C	,THR/ALA	36,4368		0,36,2166	18.0	23.0	21.0		,445	1.4	1.0	19	dbSNP_134	21	0,8598		0,0,4299	yes	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,58	0,36,6465	TT,TC,CC		0.0,0.8174,0.2769	,probably-damaging	,149/1462	40903814	36,12966	2202	4299	6501	SO:0001583	missense	57716	89	121372	45				g.chr19:40903814C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.445G>A	chr19.hg19:g.40903814C>T	ENSP00000326018:p.Ala149Thr	0					PRX_ENST00000291825.7_3'UTR	p.A149T	NM_181882.2	NP_870998.2	1	2	3	2.010022	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	7	715	-			Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	0	0	hg19	c.445G>A	CCDS33028.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.55	3.155901	0.57259	0.008174	0.0	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.9	1.41	0.22369	4.9	1.41	0.22369	.	0.606997	0.14706	N	0.303278	T	0.02047	0.0064	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.64343	-0.6430	10	0.41790	T	0.15	-0.3875	5.7664	0.18229	0.1664:0.6481:0.0:0.1855	.	149	Q9BXM0	PRAX_HUMAN	T	149	ENSP00000326018:A149T	ENSP00000326018:A149T	A	-	1	0	0	PRX	45595654	45595654	0.755000	0.28372	0.998000	0.56505	0.987000	0.75469	0.316000	0.19469	0.660000	0.30964	0.591000	0.81541	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	0		2	2	2	0		0	0	17		17	16	1	2.060000	-17.207380	1	0.170000	NM_020956			11	11		101	99	1		1	0		0	0	17	0		9.984652e-01	3.988726e-01	0	1	0	12	0	11	101
PRX	57716	broad.mit.edu	37	19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000324001.7	-	6	529	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000291825.7_Missense_Mutation_p.A87T	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	87	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAAGGCTCGGCGCATTGCAGC	0.647																																						ENST00000324001.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(259-261)Gcc>Acc		periaxin							71.0	62.0	65.0					19																	40904649		2203	4300	6503	SO:0001583	missense	57716	0	0					g.chr19:40904649C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.259G>A	chr19.hg19:g.40904649C>T	ENSP00000326018:p.Ala87Thr	0					PRX_ENST00000291825.7_Missense_Mutation_p.A87T	p.A87T	NM_181882.2	NP_870998.2	1	2	3	2.010022	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	6	529	-			Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	1	1	hg19	c.259G>A	CCDS33028.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177345	0.78564	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.04015	3.73;3.73	5.18	5.18	0.71444	5.18	5.18	0.71444	PDZ/DHR/GLGF (2);	0.055231	0.64402	D	0.000001	T	0.16041	0.0386	L	0.46819	1.47	0.53005	D	0.999968	D;D	0.76494	0.997;0.999	P;D	0.66847	0.715;0.947	T	0.00249	-1.1879	10	0.66056	D	0.02	-21.7664	17.4638	0.87627	0.0:1.0:0.0:0.0	.	87;87	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	T	87	ENSP00000326018:A87T;ENSP00000291825:A87T	ENSP00000291825:A87T	A	-	1	0	0	PRX	45596489	45596489	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.163000	0.58183	2.433000	0.82419	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_020956			56	56		298	297	1		1	1		0	0	49	0		1	8.643467e-01	0	6	0	15	0	56	298
SERTAD1	29950	broad.mit.edu	37	19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	90					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTAGGCACAGGTGGCAGG	0.672																																						ENST00000357949.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999839	0.990000	1.000000																										0				5						c.(268-270)Gtg>Atg		SERTA domain containing 1							14.0	16.0	15.0					19																	40929186		2196	4291	6487	SO:0001583	missense	29950	0	0					g.chr19:40929186C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.268G>A	chr19.hg19:g.40929186C>T	ENSP00000350633:p.Val90Met	0						p.V90M	NM_013376.3	NP_037508.2	1	2	3	2.010022	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	2	426	-			Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	1	1	hg19	c.268G>A	CCDS12557.1	1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010296	0.35511	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.786233	0.11520	N	0.555829	T	0.28499	0.0705	N	0.14661	0.345	0.27912	N	0.938579	P	0.44090	0.826	B	0.37833	0.259	T	0.09818	-1.0657	10	0.36615	T	0.2	-8.3617	15.0822	0.72122	0.0:1.0:0.0:0.0	.	90	Q9UHV2	SRTD1_HUMAN	M	90	ENSP00000350633:V90M	ENSP00000350633:V90M	V	-	1	0	0	SERTAD1	45621026	45621026	0.068000	0.21057	0.916000	0.36221	0.141000	0.21300	1.351000	0.34022	2.293000	0.77203	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_013376			20	20		99	97	1		1	1		0	0	25	0		9.999970e-01	1	0	72	0	141	0	20	99
SERTAD3	29946	broad.mit.edu	37	19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank|SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	175					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCACAGAAGAGGTTGT	0.527																																						ENST00000322354.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(523-525)ttC>ttA		SERTA domain containing 3							91.0	97.0	94.0					19																	40947463		2203	4300	6503	SO:0001583	missense	29946	0	0					g.chr19:40947463G>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.525C>A	chr19.hg19:g.40947463G>T	ENSP00000325414:p.Phe175Leu	0					SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank	p.F175L	NM_203344.2	NP_976219.1	1	2	3	2.010022	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	2	1021	-			B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	1	1	hg19	c.525C>A	CCDS12558.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533168	0.45073	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	3.9	0.45041	6.0	3.9	0.45041	.	0.172395	0.39341	N	0.001382	T	0.28797	0.0714	N	0.08118	0	0.34746	D	0.731295	B	0.12013	0.005	B	0.08055	0.003	T	0.24154	-1.0168	9	0.22706	T	0.39	-14.1294	9.171	0.37081	0.1658:0.0:0.8342:0.0	.	175	Q9UJW9	SRTD3_HUMAN	L	175	.	ENSP00000325414:F175L	F	-	3	2	2	SERTAD3	45639303	45639303	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.376000	0.52417	0.885000	0.36088	0.655000	0.94253	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	0	0	1		19	10	2	1		1	1	118		118	116	1	2.060000	-20.000000	1	0.170000	NM_013368			96	93		560	549	1		1	1		1	0	118	0		1	1	0	79	0	207	0	96	560
MAP2K2	5605	broad.mit.edu	37	19	4099233	4099233	+	Silent	SNP	C	C	T	rs368405565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	295	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|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)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|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)|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)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|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)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	TCGGCCGAGGCGAGATGCTGT	0.706																																						ENST00000262948.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0										c.(883-885)tcG>tcA		mitogen-activated protein kinase kinase 2	Bosutinib(DB06616)|Trametinib(DB08911)	C		1,4375		0,1,2187	13.0	15.0	14.0		885	-8.9	0.6	19		14	0,8582		0,0,4291	no	coding-synonymous	MAP2K2	NM_030662.3		0,1,6478	TT,TC,CC		0.0,0.0229,0.0077		295/401	4099233	1,12957	2188	4291	6479	SO:0001819	synonymous_variant	5605	1	120614	20				g.chr19:4099233C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.885G>A	chr19.hg19:g.4099233C>T		0					MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.S198S	p.S295S	NM_030662.3	NP_109587.1	1	2	3	2.010022	P36507	MP2K2_HUMAN		7	1138	-		Hepatocellular(1079;0.137)		Silent	SNP	ENST00000262948.5	0	1	hg19	c.885G>A	CCDS12120.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000				18	18		52	51	1		1	1		0	0	10	0		9.999925e-01	1	0	175	0	254	0	18	52
SPTBN4	57731	broad.mit.edu	37	19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCCGATGGCGCAGGTACCA	0.597																																						ENST00000352632.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999330	0.990000	1.000000																										0				73						c.(4-6)gCg>gTg		spectrin, beta, non-erythrocytic 4		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48.0	35.0	40.0		5	5.9	1.0	19	dbSNP_134	40	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2/2565	40978533	1,13005	2203	4300	6503	SO:0001583	missense	57731	5	121376	32				g.chr19:40978533C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5C>T	chr19.hg19:g.40978533C>T	ENSP00000263373:p.Ala2Val	0					SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V	p.A2V			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	2	91	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	1	1	hg19	c.5C>T	CCDS12559.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230017	0.39399	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80214	-1.35;-1.28;-1.32	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	D	0.82870	0.5131	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	D	0.84093	0.0391	10	0.59425	D	0.04	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	V	2	ENSP00000263373:A2V;ENSP00000340345:A2V;ENSP00000340741:A2V	ENSP00000340345:A2V	A	+	2	0	0	SPTBN4	45670373	45670373	0.997000	0.39634	1.000000	0.80357	0.175000	0.22909	3.673000	0.54591	2.793000	0.96121	0.655000	0.94253	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				19	19		108	107	0		1			0	0	31	0		9.999941e-01	0	0	0	0	0	0	19	108
SPTBN4	57731	broad.mit.edu	37	19	41008410	41008410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	ENST00000352632.3	+	10	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	400					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGATATTGACAAGGTGAGG	0.562																																						ENST00000352632.3	1.000000	0.320000	7.400000e-01	4.200000e-01	0.550000	0.589081	0.550000	0.520000																										0				73						c.(1198-1200)gAc>gGc		spectrin, beta, non-erythrocytic 4							57.0	61.0	60.0					19																	41008410		2203	4300	6503	SO:0001583	missense	57731	0	0					g.chr19:41008410A>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1199A>G	chr19.hg19:g.41008410A>G	ENSP00000263373:p.Asp400Gly	0					SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G	p.D400G			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	10	1285	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	1	1	hg19	c.1199A>G	CCDS12559.1	0	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746265	0.49257	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68624	-0.34;-0.34;-0.34	3.54	3.54	0.40534	3.54	3.54	0.40534	.	0.216512	0.30890	U	0.008677	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	P;P	0.46621	0.881;0.702	P;B	0.47864	0.559;0.283	T	0.65195	-0.6227	10	0.56958	D	0.05	.	12.0093	0.53278	1.0:0.0:0.0:0.0	.	400;400	Q9H254;Q71S06	SPTN4_HUMAN;.	G	400	ENSP00000263373:D400G;ENSP00000340345:D400G;ENSP00000340741:D400G	ENSP00000340345:D400G	D	+	2	0	0	SPTBN4	45700250	45700250	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.989000	0.93506	1.851000	0.53745	0.460000	0.39030	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-17.006540	1	0.170000				16	16		342	334	0		1	0		0	0	77	0		9.999251e-01	2.354571e-03	0	0	0	2	0	16	342
SPTBN4	57731	broad.mit.edu	37	19	41009865	41009865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A|SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	497					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATTGGCAGCCGAAGGCTACT	0.662																																						ENST00000352632.3	1.000000	0.370000	8.600000e-01	4.900000e-01	0.640000	0.668801	0.640000	0.600000																										0				73						c.(1489-1491)gcC>gcT		spectrin, beta, non-erythrocytic 4							36.0	38.0	37.0					19																	41009865		2203	4300	6503	SO:0001819	synonymous_variant	57731	5	121392	37				g.chr19:41009865C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1491C>T	chr19.hg19:g.41009865C>T		0					SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A	p.A497A			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	12	1577	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	1	1	hg19	c.1491C>T	CCDS12559.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.972314	1	0.170000				16	16		292	280	0		1			0	0	48	0		9.999161e-01	0	0	0	0	0	0	16	292
SPTBN4	57731	broad.mit.edu	37	19	41019444	41019444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41019444C>T	ENST00000352632.3	+	14	2834	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V|SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	916					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGACGACGTCGAGGTGGTGC	0.602																																						ENST00000352632.3	1.000000	0.490000	1	7.500000e-01	0.990000	0.912639	0.990000	1.000000																										0				73						c.(2746-2748)gtC>gtT		spectrin, beta, non-erythrocytic 4							24.0	14.0	18.0					19																	41019444		2198	4296	6494	SO:0001819	synonymous_variant	57731	0	0					g.chr19:41019444C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2748C>T	chr19.hg19:g.41019444C>T		0					SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V	p.V916V			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	14	2834	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	0	1	hg19	c.2748C>T	CCDS12559.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-12.610590	1	0.170000				7	7		72	72	0		1			0	0	9	0		9.822560e-01	0	0	0	0	0	0	7	72
SPTBN4	57731	broad.mit.edu	37	19	41021217	41021217	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41021217G>T	ENST00000352632.3	+	15	2851		c.e15-1		SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCTCCTGCAGATTCGAGAGC	0.537																																						ENST00000352632.3	1.000000	0.260000	1	4.300000e-01	0.690000	0.699480	0.690000	1.000000																										0				73						c.e15-1		spectrin, beta, non-erythrocytic 4							54.0	42.0	46.0					19																	41021217		2203	4300	6503	SO:0001630	splice_region_variant	57731	0	0					g.chr19:41021217G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2766-1G>T	chr19.hg19:g.41021217G>T		0					SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site				1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	15	2851	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	0	1	hg19		CCDS12559.1	0	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918493	0.73098	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	4.34	4.34	0.51931	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SPTBN4	45713057	45713057	1.000000	0.71417	0.567000	0.28434	0.864000	0.49448	9.595000	0.98260	2.256000	0.74724	0.491000	0.48974	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-8.826438	1	0.170000		Intron		5	5		90	86	0		1			0	0	24	0		9.320133e-01	0	0	0	0	0	0	5	90
SPTBN4	57731	broad.mit.edu	37	19	41040188	41040188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41040188C>T	ENST00000352632.3	+	20	4383	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000598249.1_Silent_p.L1433L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1433					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAGCCAGCTGCAAGACGT	0.592																																						ENST00000352632.3	1.000000	0.130000	5.200000e-01	2.100000e-01	0.330000	0.390239	0.330000	0.300000																										0				73						c.(4297-4299)Ctg>Ttg		spectrin, beta, non-erythrocytic 4							46.0	41.0	43.0					19																	41040188		2203	4299	6502	SO:0001819	synonymous_variant	57731	0	0					g.chr19:41040188C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4297C>T	chr19.hg19:g.41040188C>T		0					SPTBN4_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000595535.1_Silent_p.L1433L	p.L1433L			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	20	4383	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	0	1	hg19	c.4297C>T	CCDS12559.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-7.406846	1	0.170000				6	6		234	233	0		1	1		0	0	49	0		9.646195e-01	1.284134e-02	0	2	0	4	0	6	234
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGACCGCCTGTACGTG	0.667																																						ENST00000352632.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999766	0.990000	1.000000																										0				73						c.(5119-5121)cGc>cAc		spectrin, beta, non-erythrocytic 4							30.0	30.0	30.0					19																	41062025		2203	4300	6503	SO:0001583	missense	57731	1	121400	25				g.chr19:41062025G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5120G>A	chr19.hg19:g.41062025G>A	ENSP00000263373:p.Arg1707His	0					SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H	p.R1707H			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	25	5206	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	1	1	hg19	c.5120G>A	CCDS12559.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509478	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.64103	0.2568	L	0.54323	1.7	0.38876	D	0.956803	D;D;D;D	0.89917	1.0;0.971;1.0;1.0	D;P;D;D	0.91635	0.997;0.576;0.999;0.993	T	0.70346	-0.4897	10	0.87932	D	0	.	15.682	0.77376	0.0:0.0:1.0:0.0	.	450;383;1707;1707	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	H	1707;1707;1707;450;383	ENSP00000263373:R1707H;ENSP00000340345:R1707H;ENSP00000375879:R450H;ENSP00000375877:R383H	ENSP00000340345:R1707H	R	+	2	0	0	SPTBN4	45753865	45753865	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.209000	0.71365	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				25	25		145	144	1		1	1		0	0	32	0		9.999999e-01	3.459419e-01	0	2	0	6	0	25	145
SPTBN4	57731	broad.mit.edu	37	19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACACGGGCCCAGCTGCTG	0.647																																						ENST00000352632.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(5479-5481)gCc>gAc		spectrin, beta, non-erythrocytic 4							25.0	28.0	27.0					19																	41063119		2203	4298	6501	SO:0001583	missense	57731	0	0					g.chr19:41063119C>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5480C>A	chr19.hg19:g.41063119C>A	ENSP00000263373:p.Ala1827Asp	0					SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D	p.A1827D			1	2	3	2.010022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)	26	5566	+			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	1	1	hg19	c.5480C>A	CCDS12559.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773259	0.69992	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.63	3.63	0.41609	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.53769	0.1817	L	0.40543	1.245	0.38408	D	0.94585	D;D;D;P	0.71674	0.979;0.957;0.998;0.949	P;P;D;P	0.66497	0.815;0.693;0.944;0.83	T	0.49916	-0.8888	10	0.13470	T	0.59	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	D	1827;1827;1827;570;503	ENSP00000263373:A1827D;ENSP00000340345:A1827D;ENSP00000375879:A570D;ENSP00000375877:A503D	ENSP00000340345:A1827D	A	+	2	0	0	SPTBN4	45754959	45754959	0.002000	0.14202	0.999000	0.59377	0.989000	0.77384	1.157000	0.31724	2.036000	0.60181	0.455000	0.32223	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				60	60		214	211	1		1	0		0	0	52	0		1	6.795277e-01	0	1	0	9	0	60	214
LTBP4	8425	broad.mit.edu	37	19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000308370.7	+	21	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	932	Cys-rich.|EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682																																						ENST00000308370.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(2794-2796)aGc>aAc		latent transforming growth factor beta binding protein 4							36.0	42.0	40.0					19																	41119858		2066	4197	6263	SO:0001583	missense	8425	0	0					g.chr19:41119858G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2795G>A	chr19.hg19:g.41119858G>A	ENSP00000311905:p.Ser932Asn	0					LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000602240.1_3'UTR	p.S932N	NM_001042544.1	NP_001036009.1	1	2	3	2.010022	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)	21	2795	+			O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	1	1	hg19	c.2795G>A		1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319803	0.41096	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.95588	-2.93;-2.93;-2.93;-2.93;-3.75	4.61	3.58	0.41010	4.61	3.58	0.41010	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.165873	0.29846	N	0.011060	D	0.84880	0.5570	N	0.02225	-0.63	0.80722	D	1	B;P;P;B;P	0.36837	0.0;0.571;0.51;0.259;0.51	B;B;B;B;B	0.38803	0.004;0.213;0.229;0.229;0.282	T	0.81342	-0.0976	10	0.12430	T	0.62	.	8.3198	0.32121	0.1852:0.0:0.8148:0.0	.	30;152;865;932;895	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	895;385;932;865;30	ENSP00000204005:S895N;ENSP00000441054:S385N;ENSP00000311905:S932N;ENSP00000380031:S865N;ENSP00000243562:S30N	ENSP00000204005:S895N	S	+	2	0	0	LTBP4	45811698	45811698	0.343000	0.24818	1.000000	0.80357	0.994000	0.84299	3.480000	0.53172	1.175000	0.42826	0.462000	0.41574	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_003573			43	43		165	161	1		1	1		0	0	26	0		1	1	0	11	0	197	0	43	165
LTBP4	8425	broad.mit.edu	37	19	41125325	41125325	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000308370.7	+	26	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1115	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522																																						ENST00000308370.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				1						c.(3340-3342)ctC>ctA		latent transforming growth factor beta binding protein 4							115.0	116.0	116.0					19																	41125325		1989	4174	6163	SO:0001819	synonymous_variant	8425	0	0					g.chr19:41125325C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3342C>A	chr19.hg19:g.41125325C>A		0					LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000602240.1_3'UTR	p.L1114L	NM_001042544.1	NP_001036009.1	1	2	3	2.010022	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)	26	3342	+			O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	1	1	hg19	c.3342C>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.221896	1	0.170000	NM_003573			53	53		371	363	1		1	1		0	0	61	0		1	1	0	13	0	385	0	53	371
LTBP4	8425	broad.mit.edu	37	19	41135381	41135381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	ENST00000308370.7	+	34	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1601	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCTCCTTCCGCTGCATCTG	0.706																																						ENST00000308370.7	1.000000	0.750000	1	9.200000e-01	0.990000	0.970878	0.990000	1.000000																										0				1						c.(4798-4800)Cgc>Tgc		latent transforming growth factor beta binding protein 4							28.0	32.0	31.0					19																	41135381		2159	4258	6417	SO:0001583	missense	8425	0	0					g.chr19:41135381C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4798C>T	chr19.hg19:g.41135381C>T	ENSP00000311905:p.Arg1600Cys	0					LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	p.R1600C	NM_001042544.1	NP_001036009.1	1	2	3	2.010022	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)	34	4798	+			O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	1	1	hg19	c.4798C>T		1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679465	0.68042	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.92545	-3.06;-3.06;-3.06	3.82	3.82	0.43975	3.82	3.82	0.43975	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35936	N	0.002889	D	0.95322	0.8482	.	.	.	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	0.78314	0.977;0.977;0.991;0.986;0.986	D	0.95356	0.8451	9	0.87932	D	0	.	11.0964	0.48147	0.0:0.8112:0.1888:0.0	.	361;613;1533;1601;1563	F5GYA5;Q8N2S1-4;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	C	1563;1600;1533;361	ENSP00000204005:R1563C;ENSP00000311905:R1600C;ENSP00000380031:R1533C	ENSP00000204005:R1563C	R	+	1	0	0	LTBP4	45827221	45827221	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.862000	0.27899	2.136000	0.66102	0.563000	0.77884	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.966611	1	0.170000	NM_003573			27	26		263	259	0		1	1		0	0	53	0		1	9.999993e-01	0	11	0	218	0	27	263
NUMBL	9253	broad.mit.edu	37	19	41173718	41173718	+	Silent	SNP	C	C	T	rs370985786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	ENST00000252891.4	-	10	1652	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_ENST00000598779.1_Silent_p.P454P|NUMBL_ENST00000540131.1_Silent_p.P454P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	495					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGCCCAAGCCCGGGTAGGCGG	0.687																																						ENST00000252891.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999695	0.990000	1.000000																										0				16						c.(1483-1485)ccG>ccA		numb homolog (Drosophila)-like				0,4114		0,0,2057	6.0	6.0	6.0		1485	-8.6	0.2	19		6	9,8229		0,9,4110	no	coding-synonymous	NUMBL	NM_004756.3		0,9,6167	TT,TC,CC		0.1092,0.0,0.0729		495/610	41173718	9,12343	2057	4119	6176	SO:0001819	synonymous_variant	9253	33	119502	40				g.chr19:41173718C>T	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1485G>A	chr19.hg19:g.41173718C>T		0					NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	p.P495P	NM_004756.3	NP_004747.1	1	2	3	2.010022	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)	10	1652	-			Q7Z4J9	Silent	SNP	ENST00000252891.4	0	1	hg19	c.1485G>A	CCDS12561.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-11.668740	1	0.170000	NM_004756			13	13		49	49	1		1	1		0	0	11	0		9.997308e-01	9.999880e-01	0	10	0	83	0	13	49
NUMBL	9253	broad.mit.edu	37	19	41173926	41173926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	ENST00000252891.4	-	10	1444	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V|NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	426					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgGGCCTTGGCCAC	0.662																																						ENST00000252891.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997760	0.990000	1.000000																										0				16						c.(1276-1278)gCc>gTc		numb homolog (Drosophila)-like							10.0	9.0	9.0					19																	41173926		2177	4257	6434	SO:0001583	missense	9253	0	0					g.chr19:41173926G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1277C>T	chr19.hg19:g.41173926G>A	ENSP00000252891:p.Ala426Val	0					NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	p.A426V	NM_004756.3	NP_004747.1	1	2	3	2.010022	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)	10	1444	-			Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	0	1	hg19	c.1277C>T	CCDS12561.1	1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.709666	0.48517	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.32515	1.45;1.45	4.58	3.54	0.40534	4.58	3.54	0.40534	.	0.132179	0.48767	N	0.000162	T	0.19644	0.0472	N	0.19112	0.55	0.35862	D	0.82753	P;P	0.47762	0.9;0.9	B;B	0.40741	0.339;0.339	T	0.18840	-1.0324	10	0.37606	T	0.19	-10.0826	11.6372	0.51211	0.0887:0.0:0.9113:0.0	.	426;426	A8K033;Q9Y6R0	.;NUMBL_HUMAN	V	426;385	ENSP00000252891:A426V;ENSP00000442759:A385V	ENSP00000252891:A426V	A	-	2	0	0	NUMBL	45865766	45865766	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.327000	0.72910	1.149000	0.42402	0.543000	0.68304	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	0	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-18.615850	1	0.170000	NM_004756			9	12		37	36	1		1	1	0	0	0	8	0		9.965939e-01	9.999676e-01	0	9	0	96	1	9	37
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652																																						ENST00000252891.4	1.000000	0.290000	7.200000e-01	3.900000e-01	0.520000	0.566582	0.520000	0.500000																										0				16						c.(337-339)tCc>tTc		numb homolog (Drosophila)-like							97.0	88.0	91.0					19																	41188694		2203	4300	6503	SO:0001583	missense	9253	0	0					g.chr19:41188694G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.338C>T	chr19.hg19:g.41188694G>A	ENSP00000252891:p.Ser113Phe	0					NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	p.S113F	NM_004756.3	NP_004747.1	1	2	3	2.010022	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)	5	505	-			Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	1	1	hg19	c.338C>T	CCDS12561.1	0	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	0	NUMBL	45880534	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-15.103610	1	0.170000	NM_004756			14	13		316	311	0		1	1		0	0	68	0		9.997380e-01	9.902535e-01	0	6	0	169	0	14	316
ADCK4	79934	broad.mit.edu	37	19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUMBL_ENST00000599594.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCAGCTTGCGGTGCAGGGCA	0.682																																						ENST00000324464.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				17						c.(1468-1470)Cgc>Tgc		aarF domain containing kinase 4							27.0	27.0	27.0					19																	41198107		2197	4294	6491	SO:0001583	missense	79934	3	121136	29				g.chr19:41198107G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1468C>T	chr19.hg19:g.41198107G>A	ENSP00000315118:p.Arg490Cys	0					NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|NUMBL_ENST00000598779.1_5'Flank	p.R490C	NM_024876.3	NP_079152.3	1	2	3	2.010022	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)	15	1769	-			Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	0	1	hg19	c.1468C>T	CCDS12562.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872838	0.91587	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	D;D;D	0.86562	-2.14;-1.5;-1.5	5.43	3.31	0.37934	5.43	3.31	0.37934	.	0.051479	0.85682	N	0.000000	D	0.94948	0.8366	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94152	0.7406	10	0.87932	D	0	-16.2832	9.2545	0.37575	0.0764:0.0:0.7776:0.146	.	490;449	Q96D53;Q96D53-2	ADCK4_HUMAN;.	C	490;449;449	ENSP00000315118:R490C;ENSP00000412839:R449C;ENSP00000243583:R449C	ENSP00000243583:R449C	R	-	1	0	0	ADCK4	45889947	45889947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	0.675000	0.31264	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-15.385080	1	0.170000	NM_024876			18	18		57	56	0		1	1		0	0	9	0		9.999919e-01	1	0	27	0	96	0	18	57
ADCK4	79934	broad.mit.edu	37	19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q|ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	391	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCAAACTCCCGGCTTGCACC	0.562																																						ENST00000324464.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1171-1173)cGg>cAg		aarF domain containing kinase 4							145.0	134.0	138.0					19																	41201931		2203	4300	6503	SO:0001583	missense	79934	2	121412	36				g.chr19:41201931C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1172G>A	chr19.hg19:g.41201931C>T	ENSP00000315118:p.Arg391Gln	0					ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q|ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q	p.R391Q	NM_024876.3	NP_079152.3	1	2	3	2.010022	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)	13	1473	-			Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	1	1	hg19	c.1172G>A	CCDS12562.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404456	0.83230	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68025	-0.3;-0.3;-0.3	4.78	3.75	0.43078	4.78	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.85630	2.765	0.53005	D	0.999967	D;P	0.60575	0.988;0.931	P;P	0.45195	0.473;0.468	T	0.77487	-0.2569	10	0.87932	D	0	-24.933	11.8167	0.52216	0.0:0.9133:0.0:0.0867	.	391;350	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Q	391;350;350	ENSP00000315118:R391Q;ENSP00000412839:R350Q;ENSP00000243583:R350Q	ENSP00000243583:R350Q	R	-	2	0	0	ADCK4	45893771	45893771	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.595000	0.67563	1.245000	0.43885	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-2.330335	0	0.170000	NM_024876			121	118		649	637	1		1	1		0	0	140	0		1	1	0	40	0	94	0	121	649
EGLN2	112398	broad.mit.edu	37	19	41306816	41306816	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	EGLN2_ENST00000303961.4_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.R113R|EGLN2_ENST00000594140.1_5'Flank|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	113	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|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-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687																																						ENST00000593726.1	1.000000	0.670000	1	9.300000e-01	0.990000	0.966401	0.990000	1.000000																										0				10						c.(337-339)cgG>cgT		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						14.0	14.0	14.0					19																	41306816		2193	4290	6483	SO:0001819	synonymous_variant	112398	0	0					g.chr19:41306816G>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.339G>T	chr19.hg19:g.41306816G>T		0					EGLN2_ENST00000406058.2_Silent_p.R113R|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Silent_p.R113R	p.R113R			1	2	3	2.010022	Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	1	1367	+			A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	0	1	hg19	c.339G>T	CCDS12567.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-18.131390	1	0.170000				11	11		95	93	1		1	1		0	0	17	0		9.984753e-01	9.988354e-01	0	10	0	99	0	11	95
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	25						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572																																						ENST00000301146.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(73-75)Cag>Tag		cytochrome P450, family 2, subfamily A, polypeptide 7							88.0	74.0	79.0					19																	41388043		2203	4300	6503	SO:0001587	stop_gained	1549	0	0					g.chr19:41388043G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.73C>T	chr19.hg19:g.41388043G>A	ENSP00000301146:p.Gln25*	0					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*	p.Q25*	NM_000764.2	NP_000755.2	1	2	3	2.010022	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	1	614	-			Q13121	Nonsense_Mutation	SNP	ENST00000301146.4	0	1	hg19	c.73C>T	CCDS12569.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.970539	0.97156	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.24	-3.48	0.04739	2.24	-3.48	0.04739	.	1.246510	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3712	0.11249	0.1619:0.0:0.3802:0.4578	.	.	.	.	X	25	.	ENSP00000291764:Q25X	Q	-	1	0	0	CYP2A7	46079883	46079883	0.000000	0.05858	0.002000	0.10522	0.198000	0.23893	-0.902000	0.04088	-0.457000	0.07033	0.184000	0.17185	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.327258	1	0.170000	NM_030589			50	50		228	223	0		1			0	0	54	0		1	0	0	0	0	0	0	50	228
CYP2B6	1555	broad.mit.edu	37	19	41509926	41509926	+	Silent	SNP	C	C	T	rs534437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	64					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AATATGGGGACGTCTTCACGG	0.532													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17296	0.0		0.0	False		,,,				2504	0.0					ENST00000324071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(190-192)gaC>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)						49.0	49.0	49.0					19																	41509926		2203	4296	6499	SO:0001819	synonymous_variant	1555	6	121404	38				g.chr19:41509926C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.192C>T	chr19.hg19:g.41509926C>T		0					CYP2B6_ENST00000330446.5_Silent_p.D24D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR	p.D64D	NM_000767.4	NP_000758.1	1	2	3	2.010022	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)	2	199	+			B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	0	1	hg19	c.192C>T	CCDS12570.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	0	0	0		2	2	2	0		0	0	61		61	71	1	2.060000	-20.000000	1	0.170000	NM_000767			56	55		316	309	1		1			0	0	61	0		1	0	0	0	0	0	0	56	316
CYP2B6	1555	broad.mit.edu	37	19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	82					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GTGGAGTAGAGGCCATACGGG	0.587																																						ENST00000324071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(244-246)gaG>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)						82.0	82.0	82.0					19																	41509980		2203	4300	6503	SO:0001583	missense	1555	0	0					g.chr19:41509980G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.246G>T	chr19.hg19:g.41509980G>T	ENSP00000324648:p.Glu82Asp	0					CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D	p.E82D	NM_000767.4	NP_000758.1	1	2	3	2.010022	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)	2	253	+			B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	1	1	hg19	c.246G>T	CCDS12570.1	1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363878	0.24684	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69175	4.95;-0.38	4.15	-8.3	0.01005	4.15	-8.3	0.01005	.	0.366856	0.28409	N	0.015458	T	0.28995	0.0720	N	0.04275	-0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.22521	-1.0214	10	0.15066	T	0.55	.	5.2272	0.15401	0.0931:0.483:0.1419:0.282	.	42;82	B4DWP3;P20813	.;CP2B6_HUMAN	D	82;42	ENSP00000324648:E82D;ENSP00000330650:E42D	ENSP00000324648:E82D	E	+	3	2	2	CYP2B6	46201820	46201820	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-2.960000	0.00673	-3.181000	0.00222	-0.777000	0.03380	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	1	0	0		2	2	2	0		0	0	103		103	105	1	2.060000	-20.000000	1	0.170000	NM_000767			99	99		489	477	1		1			0	0	103	0		1	0	0	0	0	0	0	99	489
CREB3L3	84699	broad.mit.edu	37	19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T	rs199572730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000252587.3_5'UTR	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	7					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)			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)		GATTTAGCTGCTGGAAAGGTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16129	0.0		0.0	False		,,,				2504	0.0					ENST00000078445.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.997093	0.990000	1.000000																										0				24						c.(19-21)gCt>gTt		cAMP responsive element binding protein 3-like 3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115.0	88.0	97.0		20	2.2	0.0	19		97	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	7/462	4153764	1,13005	2203	4300	6503	SO:0001583	missense	84699	2	121412	33				g.chr19:4153764C>T		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.20C>T	chr19.hg19:g.4153764C>T	ENSP00000078445:p.Ala7Val	0					CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V	p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	1	2	3	2.010022	Q68CJ9	CR3L3_HUMAN		1	167	+			B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	1	1	hg19	c.20C>T	CCDS12121.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.81	2.048461	0.36181	2.27E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83591	-1.74	4.51	2.21	0.28008	4.51	2.21	0.28008	.	1.054720	0.07391	N	0.889091	T	0.75781	0.3896	L	0.44542	1.39	0.21762	N	0.99955	B	0.17038	0.02	B	0.12156	0.007	T	0.58267	-0.7666	10	0.29301	T	0.29	-16.9793	6.8451	0.23984	0.0:0.7632:0.0:0.2368	.	7	Q68CJ9	CR3L3_HUMAN	V	7	ENSP00000078445:A7V	ENSP00000078445:A7V	A	+	2	0	0	CREB3L3	4104764	4104764	0.000000	0.05858	0.007000	0.13788	0.131000	0.20780	0.083000	0.14871	0.380000	0.24823	0.485000	0.47835	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_032607			21	21		147	142	1		1	1		0	0	33	0		9.999978e-01	2.282398e-01	0	5	0	2	0	21	147
CYP2B6	1555	broad.mit.edu	37	19	41518231	41518231	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	331					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTGAACAGGTGATTGGCCCAC	0.483																																						ENST00000324071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(991-993)gtG>gtA		cytochrome P450, family 2, subfamily B, polypeptide 6	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)						85.0	68.0	74.0					19																	41518231		2203	4300	6503	SO:0001819	synonymous_variant	1555	0	0					g.chr19:41518231G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.993G>A	chr19.hg19:g.41518231G>A		0					CYP2B6_ENST00000330446.5_Silent_p.V131V|CYP2B6_ENST00000593831.1_Silent_p.V95V	p.V331V	NM_000767.4	NP_000758.1	1	2	3	2.010022	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)	7	1000	+			B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	1	1	hg19	c.993G>A	CCDS12570.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_000767			53	52		183	175	1		1			0	0	54	0		1	0	0	0	0	0	0	53	183
CYP2A13	1553	broad.mit.edu	37	19	41594992	41594992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	113					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)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCTTCAAAGGCTATGGTGAGG	0.632																																						ENST00000330436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(337-339)ggC>ggA		cytochrome P450, family 2, subfamily A, polypeptide 13	Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)						44.0	42.0	43.0					19																	41594992		2203	4298	6501	SO:0001819	synonymous_variant	1553	0	0					g.chr19:41594992C>A	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.339C>A	chr19.hg19:g.41594992C>A		0						p.G113G	NM_000766.4	NP_000757.2	1	2	3	2.010022	Q16696	CP2AD_HUMAN		2	339	+			Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	1	1	hg19	c.339C>A	CCDS12571.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	1	0	1		2	2	2	0		0	0	60		60	61	1	2.060000	-20.000000	1	0.170000	NM_000766			56	55		271	261	1		1			0	0	60	0		1	0	0	0	0	0	0	56	271
CYP2A13	1553	broad.mit.edu	37	19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	212					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)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TTCCAGTTCACGGCAACCTCC	0.572																																						ENST00000330436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(634-636)aCg>aTg		cytochrome P450, family 2, subfamily A, polypeptide 13	Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)						117.0	103.0	108.0					19																	41596450		2203	4300	6503	SO:0001583	missense	1553	0	0					g.chr19:41596450C>T	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.635C>T	chr19.hg19:g.41596450C>T	ENSP00000332679:p.Thr212Met	0						p.T212M	NM_000766.4	NP_000757.2	1	2	3	2.010022	Q16696	CP2AD_HUMAN		4	635	+			Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	1	1	hg19	c.635C>T	CCDS12571.1	1	.	.	.	.	.	.	.	.	.	.	.	3.541	-0.093776	0.07053	.	.	ENSG00000197838	ENST00000330436	T	0.68331	-0.32	3.66	3.66	0.41972	3.66	3.66	0.41972	.	1.565340	0.03511	U	0.219623	T	0.48352	0.1495	N	0.11870	0.19	0.09310	N	1	P	0.49307	0.922	B	0.39590	0.304	T	0.44802	-0.9304	10	0.18276	T	0.48	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	212	Q16696	CP2AD_HUMAN	M	212	ENSP00000332679:T212M	ENSP00000332679:T212M	T	+	2	0	0	CYP2A13	46288290	46288290	0.000000	0.05858	0.636000	0.29352	0.155000	0.21991	0.478000	0.22212	1.871000	0.54225	0.195000	0.17529	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_000766			74	74		436	423	1		1			0	0	98	0		1	0	0	0	0	0	0	74	436
CYP2A13	1553	broad.mit.edu	37	19	41601664	41601664	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						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)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTCCTCCTCAGGAAAGCGGTA	0.577																																						ENST00000330436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.e9-1		cytochrome P450, family 2, subfamily A, polypeptide 13	Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)						109.0	103.0	105.0					19																	41601664		2203	4300	6503	SO:0001630	splice_region_variant	1553	0	0					g.chr19:41601664G>T	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.1304-1G>T	chr19.hg19:g.41601664G>T		0							NM_000766.4	NP_000757.2	1	2	3	2.010022	Q16696	CP2AD_HUMAN		9	1303	+			Q53YR8|Q6R569|Q6R570|Q9H2X2	Splice_Site	SNP	ENST00000330436.3	1	1	hg19		CCDS12571.1	1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.835690	0.71373	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.24	4.24	0.50183	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7296	0.62779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CYP2A13	46293504	46293504	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	9.187000	0.94912	2.229000	0.72834	0.574000	0.79327	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-2.851091	1	0.170000	NM_000766	Intron		87	87		441	425	0		1			0	0	95	0		1	0	0	0	0	0	0	87	441
CYP2F1	1572	broad.mit.edu	37	19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	132					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)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TATCCAGATTCTACGGAATTT	0.547																																						ENST00000331105.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(394-396)Cta>Ata		cytochrome P450, family 2, subfamily F, polypeptide 1							111.0	108.0	109.0					19																	41626311		2203	4300	6503	SO:0001583	missense	1572	0	0					g.chr19:41626311C>A	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.394C>A	chr19.hg19:g.41626311C>A	ENSP00000333534:p.Leu132Ile	0						p.L132I	NM_000774.3	NP_000765.2	1	2	3	2.010022	P24903	CP2F1_HUMAN		4	466	+			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	1	1	hg19	c.394C>A	CCDS12572.1	1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515704	0.44763	.	.	ENSG00000197446	ENST00000331105	T	0.16073	2.37	4.25	4.25	0.50352	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000003	T	0.42471	0.1204	M	0.86420	2.815	0.47374	D	0.999403	D;P	0.53619	0.961;0.897	D;P	0.64776	0.929;0.882	T	0.44982	-0.9292	10	0.87932	D	0	.	10.1017	0.42509	0.0:0.9003:0.0:0.0997	.	132;132	Q32MN5;P24903	.;CP2F1_HUMAN	I	132	ENSP00000333534:L132I	ENSP00000333534:L132I	L	+	1	2	2	CYP2F1	46318151	46318151	0.872000	0.30054	0.787000	0.31911	0.101000	0.19017	1.741000	0.38238	2.239000	0.73571	0.562000	0.76482	CTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000				124	117		540	529	1		1	0		0	0	126	0		1	3.545525e-02	0	1	0	1	0	124	540
CYP2S1	29785	broad.mit.edu	37	19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					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)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627																																						ENST00000310054.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(496-498)Cgc>Tgc		cytochrome P450, family 2, subfamily S, polypeptide 1							118.0	113.0	114.0					19																	41704369		2203	4300	6503	SO:0001583	missense	29785	1	121412	30				g.chr19:41704369C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.496C>T	chr19.hg19:g.41704369C>T	ENSP00000308032:p.Arg166Cys	0					CYP2S1_ENST00000542619.1_Intron	p.R166C	NM_030622.6	NP_085125.1	1	2	3	2.010022	Q96SQ9	CP2S1_HUMAN		4	712	+			Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	1	1	hg19	c.496C>T	CCDS12573.1	1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210337	0.39003	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.69175	-0.38	5.14	-0.331	0.12679	5.14	-0.331	0.12679	.	2.019370	0.02308	N	0.071858	T	0.72795	0.3505	M	0.82056	2.57	0.09310	N	1	D	0.57571	0.98	P	0.48227	0.571	T	0.58719	-0.7587	10	0.66056	D	0.02	.	6.1916	0.20528	0.2612:0.568:0.0:0.1708	.	166	Q96SQ9	CP2S1_HUMAN	C	166	ENSP00000308032:R166C	ENSP00000301173:R166C	R	+	1	0	0	CYP2S1	46396209	46396209	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-0.565000	0.05929	0.158000	0.19367	0.306000	0.20318	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1	1	0	1		2	2	2	0		0	0	159		159	156	1	2.060000	-20.000000	1	0.170000				131	128		690	656	1		1	1		0	0	159	0		1	1	0	249	0	296	0	131	690
CYP2S1	29785	broad.mit.edu	37	19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	222					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)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627																																						ENST00000310054.4	1.000000	0.350000	6.600000e-01	4.300000e-01	0.520000	0.566907	0.520000	0.510000																										0				14						c.(664-666)atG>atA		cytochrome P450, family 2, subfamily S, polypeptide 1							92.0	79.0	83.0					19																	41704625		2203	4300	6503	SO:0001583	missense	29785	0	0					g.chr19:41704625G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.666G>A	chr19.hg19:g.41704625G>A	ENSP00000308032:p.Met222Ile	0					CYP2S1_ENST00000542619.1_Intron	p.M222I	NM_030622.6	NP_085125.1	1	2	3	2.010022	Q96SQ9	CP2S1_HUMAN		5	882	+			Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	1	1	hg19	c.666G>A	CCDS12573.1	0	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689696	0.29962	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01240	5.12	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.210189	0.41001	U	0.000962	T	0.01254	0.0041	N	0.25647	0.755	0.80722	D	1	B	0.29909	0.261	B	0.26517	0.07	T	0.65919	-0.6051	10	0.17369	T	0.5	.	9.7964	0.40737	0.0946:0.0:0.9054:0.0	.	222	Q96SQ9	CP2S1_HUMAN	I	222	ENSP00000308032:M222I	ENSP00000301173:M222I	M	+	3	0	0	CYP2S1	46396465	46396465	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	1.774000	0.38573	2.419000	0.82065	0.461000	0.40582	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000				28	28		616	608	1		1	1		0	0	107	0		1	9.999958e-01	0	51	0	374	0	28	616
AXL	558	broad.mit.edu	37	19	41726619	41726619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	ENST00000301178.4	+	2	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_ENST00000359092.3_Missense_Mutation_p.R55Q|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	55	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)			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						GGCACCCTTCGGTGTCAGCTC	0.637																																						ENST00000301178.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(163-165)cGg>cAg		AXL receptor tyrosine kinase							39.0	39.0	39.0					19																	41726619		2203	4300	6503	SO:0001583	missense	558	6	121406	31				g.chr19:41726619G>A	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.164G>A	chr19.hg19:g.41726619G>A	ENSP00000301178:p.Arg55Gln	0					AXL_ENST00000359092.3_Missense_Mutation_p.R55Q|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	1	2	3	2.010022	P30530	UFO_HUMAN		2	354	+			Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	0	1	hg19	c.164G>A	CCDS12575.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026763	0.35797	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64991	-0.13;-0.13	4.47	0.619	0.17630	4.47	0.619	0.17630	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.15876	N	0.240296	T	0.46444	0.1393	L	0.38531	1.155	0.29834	N	0.829806	B;B	0.19445	0.029;0.036	B;B	0.08055	0.002;0.003	T	0.39603	-0.9606	10	0.49607	T	0.09	-7.5574	6.9495	0.24538	0.3347:0.0:0.6653:0.0	.	55;55	P30530-2;P30530	.;UFO_HUMAN	Q	55	ENSP00000301178:R55Q;ENSP00000351995:R55Q	ENSP00000301178:R55Q	R	+	2	0	0	AXL	46418459	46418459	0.308000	0.24509	0.993000	0.49108	0.743000	0.42351	0.693000	0.25497	0.063000	0.16370	0.175000	0.17021	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				32	32		97	91	0		1	1		0	0	38	0		1	1	0	3	0	94	0	32	97
AXL	558	broad.mit.edu	37	19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000359092.3_Missense_Mutation_p.Q59H|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	59	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)			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						GTCAGCTCCAGGTTCAGGGAG	0.642																																						ENST00000301178.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				48						c.(175-177)caG>caT		AXL receptor tyrosine kinase							44.0	43.0	44.0					19																	41726632		2203	4300	6503	SO:0001583	missense	558	0	0					g.chr19:41726632G>T	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.177G>T	chr19.hg19:g.41726632G>T	ENSP00000301178:p.Gln59His	0					AXL_ENST00000359092.3_Missense_Mutation_p.Q59H|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	1	2	3	2.010022	P30530	UFO_HUMAN		2	367	+			Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	1	1	hg19	c.177G>T	CCDS12575.1	1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931823	0.34096	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65178	-0.14;-0.14	4.59	1.04	0.20106	4.59	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.718192	0.12273	N	0.483641	T	0.48095	0.1481	L	0.49455	1.56	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.44128	-0.9348	10	0.49607	T	0.09	-1.9767	0.835	0.01138	0.2185:0.187:0.4017:0.1928	.	59;59	P30530-2;P30530	.;UFO_HUMAN	H	59	ENSP00000301178:Q59H;ENSP00000351995:Q59H	ENSP00000301178:Q59H	Q	+	3	2	2	AXL	46418472	46418472	0.998000	0.40836	0.959000	0.39883	0.795000	0.44927	1.722000	0.38042	0.544000	0.28883	0.386000	0.25728	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				27	27		127	121	0		1	0		0	0	39	0		1	9.999746e-01	0	1	0	83	0	27	127
AXL	558	broad.mit.edu	37	19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000359092.3_Missense_Mutation_p.L446I|AXL_ENST00000593513.1_Missense_Mutation_p.L187I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	455					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)			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						GTATGTACTGCTAGGAGCAGT	0.552																																						ENST00000301178.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1363-1365)Cta>Ata		AXL receptor tyrosine kinase							147.0	116.0	126.0					19																	41748838		2203	4300	6503	SO:0001583	missense	558	0	0					g.chr19:41748838C>A	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.1363C>A	chr19.hg19:g.41748838C>A	ENSP00000301178:p.Leu455Ile	0					AXL_ENST00000359092.3_Missense_Mutation_p.L446I|AXL_ENST00000593513.1_Missense_Mutation_p.L187I	p.L455I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	1	2	3	2.010022	P30530	UFO_HUMAN		11	1553	+			Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	1	1	hg19	c.1363C>A	CCDS12575.1	1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283015	0.40394	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.83	4.49	3.45	0.39498	4.49	3.45	0.39498	.	0.074392	0.56097	D	0.000040	T	0.62183	0.2407	L	0.55990	1.75	0.35301	D	0.783036	P;P	0.38395	0.629;0.495	B;B	0.32805	0.153;0.073	T	0.65084	-0.6254	10	0.25751	T	0.34	-12.7963	7.5165	0.27604	0.1645:0.7444:0.0:0.0912	.	446;455	P30530-2;P30530	.;UFO_HUMAN	I	455;446	ENSP00000301178:L455I;ENSP00000351995:L446I	ENSP00000301178:L455I	L	+	1	2	2	AXL	46440678	46440678	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.972000	0.40540	0.995000	0.38917	0.650000	0.86243	CTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000				98	95		400	395	1		1	1		0	0	97	0		1	1	0	2	0	194	0	98	400
AXL	558	broad.mit.edu	37	19	41765518	41765518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	AXL_ENST00000359092.3_Silent_p.E789E|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000593513.1_Silent_p.E530E|HNRNPUL1_ENST00000595018.1_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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						GTTTTACAGAGCTGCGGGAAG	0.552																																						ENST00000301178.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2392-2394)gaG>gaA		AXL receptor tyrosine kinase							68.0	72.0	71.0					19																	41765518		2203	4300	6503	SO:0001819	synonymous_variant	558	0	0					g.chr19:41765518G>A	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.2394G>A	chr19.hg19:g.41765518G>A		0					AXL_ENST00000359092.3_Silent_p.E789E|AXL_ENST00000593513.1_Silent_p.E530E|HNRNPUL1_ENST00000595018.1_5'Flank|HNRNPUL1_ENST00000352456.3_5'Flank	p.E798E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	1	2	3	2.010022	P30530	UFO_HUMAN		20	2584	+			Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	1	1	hg19	c.2394G>A	CCDS12575.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				51	51		238	235	1		1	1		0	0	74	0		1	1	0	3	0	365	0	51	238
HNRNPUL1	11100	broad.mit.edu	37	19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458																																						ENST00000392006.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1576-1578)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein U-like 1							149.0	133.0	138.0					19																	41807498		2203	4300	6503	SO:0001583	missense	11100	0	0					g.chr19:41807498C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1576C>T	chr19.hg19:g.41807498C>T	ENSP00000375863:p.Arg526Cys	0					HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	p.R526C	NM_007040.3	NP_008971.2	1	2	3	2.010022	Q9BUJ2	HNRL1_HUMAN		11	1749	+			B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	1	1	hg19	c.1576C>T	CCDS12576.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969155	0.92855	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.06	5.02	0.67125	6.06	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.995;1.0;0.989;0.995;0.994	T	0.74383	-0.3683	10	0.87932	D	0	-15.4825	15.8696	0.79101	0.1364:0.8636:0.0:0.0	.	437;426;526;412;526;426	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	C	426;526;412;437	ENSP00000340857:R426C;ENSP00000375863:R526C;ENSP00000367460:R412C;ENSP00000263367:R437C	ENSP00000263367:R437C	R	+	1	0	0	HNRNPUL1	46499338	46499338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.547000	0.49401	0.650000	0.86243	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_144732, NM_007040			135	133		489	481	1		1	1		0	0	131	0		1	1	0	111	0	512	0	135	489
TGFB1	7040	broad.mit.edu	37	19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	143	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|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 vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507																																						ENST00000221930.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(427-429)gCg>gTg		transforming growth factor, beta 1	Hyaluronidase(DB00070)						133.0	125.0	128.0					19																	41854288		2203	4300	6503	SO:0001583	missense	7040	1	121412	39				g.chr19:41854288G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.428C>T	chr19.hg19:g.41854288G>A	ENSP00000221930:p.Ala143Val	0					TMEM91_ENST00000539627.1_5'Flank	p.A143V	NM_000660.4	NP_000651.3	1	2	3	2.010022	P01137	TGFB1_HUMAN		2	1294	-			A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	1	1	hg19	c.428C>T	CCDS33031.1	1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608131	0.28623	.	.	ENSG00000105329	ENST00000221930	T	0.72394	-0.65	4.84	4.84	0.62591	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.165870	0.53938	D	0.000058	T	0.50820	0.1638	L	0.41710	1.295	0.39365	D	0.965985	D	0.53151	0.958	B	0.27796	0.083	T	0.56691	-0.7937	10	0.15952	T	0.53	-15.2657	13.313	0.60390	0.0:0.0:1.0:0.0	.	143	P01137	TGFB1_HUMAN	V	143	ENSP00000221930:A143V	ENSP00000221930:A143V	A	-	2	0	0	TGFB1	46546128	46546128	0.929000	0.31497	0.953000	0.39169	0.286000	0.27126	1.795000	0.38784	2.513000	0.84729	0.455000	0.32223	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2	1	0	1		2	2	2	0		0	0	162		162	161	1	2.060000	-20.000000	1	0.170000				160	157		630	619	1		1	1		0	0	162	0		1	1	0	12	0	416	0	160	630
B9D2	80776	broad.mit.edu	37	19	41860620	41860620	+	Silent	SNP	G	G	A	rs143680317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000243578.3	-	4	732	c.513C>T	c.(511-513)taC>taT	p.Y171Y	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron|TGFB1_ENST00000221930.5_5'Flank	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	171					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ACTCCACGCCGTAGCGGTCGA	0.637													g|||	5	0.000998403	0.0008	0.0	5008	,	,		17417	0.004		0.0	False		,,,				2504	0.0					ENST00000243578.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				2						c.(511-513)taC>taT		B9 protein domain 2				1,4405	2.1+/-5.4	0,1,2202	85.0	69.0	74.0		513	-7.2	0.0	19	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B9D2	NM_030578.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		171/176	41860620	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80776	52	121404	47				g.chr19:41860620G>A	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.513C>T	chr19.hg19:g.41860620G>A		0					TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron	p.Y171Y	NM_030578.3	NP_085055.2	1	2	3	2.010022	Q9BPU9	B9D2_HUMAN		4	732	-				Silent	SNP	ENST00000243578.3	1	1	hg19	c.513C>T	CCDS12579.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	0	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-18.705810	1	0.170000	NM_030578			41	41		256	247	1		1	1		0	0	51	0		1	9.970156e-01	0	21	0	37	0	41	256
ANKRD24	170961	broad.mit.edu	37	19	4199913	4199913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4199913C>T	ENST00000600132.1	+	4	441	c.165C>T	c.(163-165)gcC>gcT	p.A55A	ANKRD24_ENST00000262970.5_Silent_p.A145A|ANKRD24_ENST00000318934.4_Silent_p.A55A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTACAAGCCGTGGAAAACA	0.667																																						ENST00000600132.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.994719	0.990000	1.000000																										0				21						c.(163-165)gcC>gcT		ankyrin repeat domain 24							16.0	21.0	20.0					19																	4199913		2067	4179	6246	SO:0001819	synonymous_variant	170961	0	0					g.chr19:4199913C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.165C>T	chr19.hg19:g.4199913C>T		0					ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	p.A55A	NM_133475.1	NP_597732.1	1	2	3	2.010022	Q8TF21	ANR24_HUMAN		4	441	+			O75268|O95781	Silent	SNP	ENST00000600132.1	0	1	hg19	c.165C>T	CCDS45925.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-15.508740	1	0.170000	XM_114000			7	6		29	29	0		1	0		0	0	9	0		9.826621e-01	2.880701e-01	0	1	0	4	0	7	29
ANKRD24	170961	broad.mit.edu	37	19	4202024	4202024	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000262970.5_Splice_Site_p.G205G|ANKRD24_ENST00000318934.4_Splice_Site_p.G115G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	115										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCCCCAGGTTACAATGCCC	0.512																																						ENST00000600132.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.997489	0.990000	1.000000																										0				21						c.(343-345)ggT>ggC		ankyrin repeat domain 24							92.0	86.0	88.0					19																	4202024		1914	4117	6031	SO:0001630	splice_region_variant	170961	0	0					g.chr19:4202024T>C	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.344-1T>C	chr19.hg19:g.4202024T>C		0					ANKRD24_ENST00000318934.4_Splice_Site_p.G115G|ANKRD24_ENST00000262970.5_Splice_Site_p.G205G	p.G115G	NM_133475.1	NP_597732.1	1	2	3	2.010022	Q8TF21	ANR24_HUMAN		6	621	+			O75268|O95781	Splice_Site	SNP	ENST00000600132.1	1	0	hg19	c.345T>C	CCDS45925.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	XM_114000	Silent		47	47		391	381	0		1	0		0	0	87	0		1	2.983611e-01	0	1	0	9	0	47	391
EXOSC5	56915	broad.mit.edu	37	19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	213					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCGGCCTGGGCCGCAGCCAG	0.652																																						ENST00000221233.4	1.000000	0.400000	1	6.600000e-01	0.990000	0.876379	0.990000	1.000000																										0				7						c.(637-639)gCc>gTc		exosome component 5							26.0	24.0	25.0					19																	41892608		2199	4299	6498	SO:0001583	missense	56915	0	0					g.chr19:41892608G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.638C>T	chr19.hg19:g.41892608G>A	ENSP00000221233:p.Ala213Val	0					CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000604424.1_Intron	p.A213V	NM_020158.3	NP_064543.3	1	2	3	2.010022	Q9NQT4	EXOS5_HUMAN		6	788	-			Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	0	1	hg19	c.638C>T	CCDS12580.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677115	0.88445	.	.	ENSG00000077348	ENST00000221233	T	0.62788	0.0	5.08	5.08	0.68730	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (2);	0.106321	0.64402	D	0.000005	T	0.76673	0.4020	M	0.76328	2.33	0.47778	D	0.999518	D	0.76494	0.999	P	0.62740	0.906	T	0.77755	-0.2469	10	0.49607	T	0.09	-27.7716	16.008	0.80377	0.0:0.0:1.0:0.0	.	213	Q9NQT4	EXOS5_HUMAN	V	213	ENSP00000221233:A213V	ENSP00000221233:A213V	A	-	2	0	0	EXOSC5	46584448	46584448	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.673000	0.61604	2.623000	0.88846	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-10.325900	1	0.170000	NM_020158			5	5		56	53	1		1	1		0	0	9	0		9.318930e-01	9.950086e-01	0	45	0	87	0	5	56
CEACAM21	90273	broad.mit.edu	37	19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000401445.2	+	2	313	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S96I			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	96						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493																																						ENST00000401445.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				13						c.(286-288)aGc>aTc		carcinoembryonic antigen-related cell adhesion molecule 21							103.0	107.0	106.0					19																	42083774		2181	4293	6474	SO:0001583	missense	90273	0	0					g.chr19:42083774G>T	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.287G>T	chr19.hg19:g.42083774G>T	ENSP00000385739:p.Ser96Ile	0					CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR	p.S96I			1	2	3	2.010022	Q3KPI0	CEA21_HUMAN		2	313	+			B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	1	1	hg19	c.287G>T	CCDS46086.1	1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936009	0.34189	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.69806	-0.43;-0.43	1.84	-0.702	0.11265	1.84	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83478	0.5263	H	0.96889	3.9	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	T	0.69562	-0.5112	9	0.87932	D	0	.	3.1705	0.06550	0.1868:0.2804:0.5328:0.0	.	96;96	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	I	96	ENSP00000187608:S96I;ENSP00000385739:S96I	ENSP00000187608:S96I	S	+	2	0	0	CEACAM21	46775614	46775614	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.462000	0.06704	-0.054000	0.13266	0.123000	0.15791	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_033543			43	43		259	255	1		1	0		0	0	77	0		1	7.489198e-01	0	0	0	18	0	43	259
ANKRD24	170961	broad.mit.edu	37	19	4216663	4216663	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	ENST00000600132.1	+	18	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H|ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	502										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACGCAGGCAGCACGCTGAGG	0.622																																						ENST00000600132.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998153	0.990000	1.000000																										0				21						c.(1504-1506)caG>caT		ankyrin repeat domain 24							26.0	27.0	27.0					19																	4216663		2032	4177	6209	SO:0001583	missense	170961	0	0					g.chr19:4216663G>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1506G>T	chr19.hg19:g.4216663G>T	ENSP00000471252:p.Gln502His	0					ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	p.Q502H	NM_133475.1	NP_597732.1	1	2	3	2.010022	Q8TF21	ANR24_HUMAN		18	1782	+			O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	0	1	hg19	c.1506G>T	CCDS45925.1	1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.944226	0.53079	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.38560	1.13;1.16	4.6	2.39	0.29439	4.6	2.39	0.29439	.	0.549841	0.13688	N	0.369707	T	0.36744	0.0978	L	0.27053	0.805	0.27072	N	0.963292	D;B	0.56968	0.978;0.392	P;B	0.52267	0.694;0.091	T	0.13845	-1.0494	10	0.27082	T	0.32	-15.3871	8.5402	0.33388	0.1894:0.0:0.8106:0.0	.	502;592	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	502;592	ENSP00000321731:Q502H;ENSP00000262970:Q592H	ENSP00000262970:Q592H	Q	+	3	2	2	ANKRD24	4167663	4167663	0.998000	0.40836	0.967000	0.41034	0.887000	0.51463	1.040000	0.30278	0.471000	0.27319	0.313000	0.20887	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.955150	1	0.170000	XM_114000			11	10		52	50	1		1	1		0	0	13	0		9.984680e-01	6.108762e-01	0	4	0	7	0	11	52
CEACAM4	1089	broad.mit.edu	37	19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	98	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TACTGTCTCTCGACCACTGTA	0.493																																						ENST00000221954.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(292-294)cGa>cAa		carcinoembryonic antigen-related cell adhesion molecule 4							182.0	168.0	173.0					19																	42132106		2203	4300	6503	SO:0001583	missense	1089	1	121412	42				g.chr19:42132106C>T	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.293G>A	chr19.hg19:g.42132106C>T	ENSP00000221954:p.Arg98Gln	0					CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	p.R98Q	NM_001817.2	NP_001808.2	1	2	3	2.010022	O75871	CEAM4_HUMAN		2	403	-			Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	1	1	hg19	c.293G>A	CCDS33033.1	1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647691	0.47258	.	.	ENSG00000105352	ENST00000221954	T	0.72282	-0.64	1.76	1.76	0.24704	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84506	0.5487	M	0.90870	3.155	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	T	0.70339	-0.4899	9	0.72032	D	0.01	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	98;98	E7EMX3;O75871	.;CEAM4_HUMAN	Q	98	ENSP00000221954:R98Q	ENSP00000221954:R98Q	R	-	2	0	0	CEACAM4	46823946	46823946	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.162000	0.16501	1.281000	0.44480	0.205000	0.17691	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	1	0	1		2	2	2	0		0	0	187		187	187	1	2.060000	-2.842381	1	0.170000	NM_001817			167	162		755	735	1		1	0		0	0	187	0		1	8.138455e-01	0	0	0	16	0	167	755
CEACAM7	1087	broad.mit.edu	37	19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	3						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GCTGAAGGGGACCCCATGGTC	0.607																																						ENST00000006724.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(7-9)Tcc>Ccc		carcinoembryonic antigen-related cell adhesion molecule 7							81.0	67.0	72.0					19																	42192088		2203	4300	6503	SO:0001583	missense	1087	0	0					g.chr19:42192088A>G	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.7T>C	chr19.hg19:g.42192088A>G	ENSP00000006724:p.Ser3Pro	0					CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron	p.S3P	NM_006890.3	NP_008821.1	1	2	3	2.010022	Q14002	CEAM7_HUMAN		1	208	-			A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	1	1	hg19	c.7T>C	CCDS12583.1	1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.095813	0.00364	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13538	2.58;2.58;5.32	1.67	0.317	0.15861	1.67	0.317	0.15861	.	.	.	.	.	T	0.02767	0.0083	N	0.00765	-1.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.44065	-0.9352	9	0.02654	T	1	.	4.1531	0.10247	0.2321:0.0:0.7679:0.0	.	3;3	Q14002-2;Q14002	.;CEAM7_HUMAN	P	3	ENSP00000006724:S3P;ENSP00000385932:S3P;ENSP00000343286:S3P	ENSP00000006724:S3P	S	-	1	0	0	CEACAM7	46883928	46883928	0.000000	0.05858	0.257000	0.24404	0.035000	0.12851	-1.106000	0.03319	0.234000	0.21139	-0.756000	0.03474	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_006890			48	48		229	222	1		1	1		0	0	51	0		1	8.166269e-01	0	2	0	15	0	48	229
CEACAM5	1048	broad.mit.edu	37	19	42219576	42219576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000221992.6	+	4	825	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_ENST00000405816.1_Silent_p.P237P|CEACAM5_ENST00000398599.4_Silent_p.P237P|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	237	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			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)		CAGATGGCCCGGATGCCCCCA	0.507																																						ENST00000221992.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(709-711)ccG>ccA		carcinoembryonic antigen-related cell adhesion molecule 5							68.0	70.0	69.0					19																	42219576		2203	4300	6503	SO:0001819	synonymous_variant	1048	6	121412	39				g.chr19:42219576G>A	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.711G>A	chr19.hg19:g.42219576G>A		0					CEACAM5_ENST00000405816.1_Silent_p.P237P|CEACAM5_ENST00000398599.4_Silent_p.P237P|CEA_ENST00000598976.1_Intron	p.P237P	NM_004363.2	NP_004354.2	1	2	3	2.010022	P06731	CEAM5_HUMAN		4	825	+			H9KVA7	Silent	SNP	ENST00000221992.6	1	1	hg19	c.711G>A	CCDS12584.1	1	.	.	.	.	.	.	.	.	.	.	-	0.155	-1.087253	0.01873	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.18	-0.947	0.10382	3.18	-0.947	0.10382	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.7144	0.05183	0.2758:0.0:0.5037:0.2205	.	.	.	.	R	234	.	.	G	+	1	0	0	CEACAM5	46911416	46911416	0.000000	0.05858	0.695000	0.30226	0.048000	0.14542	-2.052000	0.01401	0.046000	0.15833	-0.680000	0.03767	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-2.703151	1	0.170000	NM_004363			69	68		300	290	1		1	1		0	0	93	0		1	9.999998e-01	0	25	0	74	0	69	300
CEACAM5	1048	broad.mit.edu	37	19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000221992.6	+	6	1499	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	462	Ig-like 5.				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)			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)		ACACAAGAGCTCTTTATCTCC	0.517																																						ENST00000221992.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1384-1386)cTc>cAc		carcinoembryonic antigen-related cell adhesion molecule 5							128.0	103.0	111.0					19																	42222194		2203	4300	6503	SO:0001583	missense	1048	0	0					g.chr19:42222194T>A	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.1385T>A	chr19.hg19:g.42222194T>A	ENSP00000221992:p.Leu462His	0					CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEA_ENST00000598976.1_Intron	p.L462H	NM_004363.2	NP_004354.2	1	2	3	2.010022	P06731	CEAM5_HUMAN		6	1499	+			H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	1	1	hg19	c.1385T>A	CCDS12584.1	1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.367673	0.42003	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	D;D	0.89415	-2.51;-2.51	2.39	2.39	0.29439	2.39	2.39	0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96599	0.8890	H	0.99863	4.86	0.19300	N	0.999978	P;D	0.76494	0.921;0.999	D;D	0.74674	0.936;0.984	D	0.87983	0.2744	9	0.87932	D	0	.	6.7185	0.23316	0.0:0.0:0.0:1.0	.	462;462	P06731;Q53G30	CEAM5_HUMAN;.	H	462;462;180	ENSP00000221992:L462H;ENSP00000385072:L462H	ENSP00000221992:L462H	L	+	2	0	0	CEACAM5	46914034	46914034	0.022000	0.18835	0.433000	0.26760	0.046000	0.14306	1.093000	0.30939	1.361000	0.45981	0.433000	0.28618	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_004363			90	88		358	347	1		1	1		0	0	103	0		1	1	0	62	0	85	0	90	358
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.				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)			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)		CACCTGTGAACCTGAGGCTCA	0.567																																						ENST00000221992.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1573-1575)Cct>Tct		carcinoembryonic antigen-related cell adhesion molecule 5							163.0	140.0	148.0					19																	42223929		2203	4300	6503	SO:0001583	missense	1048	1	121412	29				g.chr19:42223929C>T	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.1573C>T	chr19.hg19:g.42223929C>T	ENSP00000221992:p.Pro525Ser	0					CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEA_ENST00000598976.1_Intron	p.P525S	NM_004363.2	NP_004354.2	1	2	3	2.010022	P06731	CEAM5_HUMAN		7	1687	+			H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	1	1	hg19	c.1573C>T	CCDS12584.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.682|4.682	0.126783|0.126783	0.08931|0.08931	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02446|.	4.29;4.29|.	2.53|2.53	0.1|0.1	0.14510|0.14510	2.53|2.53	0.1|0.1	0.14510|0.14510	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	B;B|.	0.27700|.	0.032;0.186|.	B;B|.	0.35073|.	0.108;0.195|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|5	0.44086|.	T|.	0.13|.	.|.	6.8499|6.8499	0.24008|0.24008	0.5356:0.4644:0.0:0.0|0.5356:0.4644:0.0:0.0	.|.	525;525|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|I	525;525;243|520	ENSP00000221992:P525S;ENSP00000385072:P525S|.	ENSP00000221992:P525S|.	P|T	+|+	1|2	0|0	0|0	CEACAM5|CEACAM5	46915769|46915769	46915769|46915769	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-4.237000|-4.237000	0.00268|0.00268	0.076000|0.076000	0.16826|0.16826	0.404000|0.404000	0.27445|0.27445	CCT|ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1		2	2	2	0		0	0	208		208	211	1	2.060000	-20.000000	1	0.170000	NM_004363			131	129		682	669	1		1	1		0	0	208	0		1	9.999995e-01	0	51	0	54	0	131	682
CEACAM6	4680	broad.mit.edu	37	19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	137	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488																																						ENST00000199764.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(409-411)cAg>cGg		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							273.0	269.0	270.0					19																	42260853		2203	4300	6503	SO:0001583	missense	4680	0	0					g.chr19:42260853A>G	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.410A>G	chr19.hg19:g.42260853A>G	ENSP00000199764:p.Gln137Arg	0					AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	p.Q137R	NM_002483.4	NP_002474.3	1	2	3	2.010022	P40199	CEAM6_HUMAN		2	628	+			Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	1	1	hg19	c.410A>G	CCDS12585.1	1	.	.	.	.	.	.	.	.	.	.	A	1.897	-0.454152	0.04540	.	.	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.15	-0.616	0.11583	2.15	-0.616	0.11583	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	L	0.60067	1.865	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.35525	-0.9785	9	0.30854	T	0.27	.	6.975	0.24670	0.7167:0.0:0.2833:0.0	.	137	P40199	CEAM6_HUMAN	R	137	ENSP00000199764:Q137R	ENSP00000199764:Q137R	Q	+	2	0	0	CEACAM6	46952693	46952693	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.716000	0.25836	-1.127000	0.02925	-1.889000	0.00537	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1	1	0	1		2	2	2	0		0	0	374		374	368	1	2.060000	-20.000000	1	0.170000				256	254		1223	1193	1		1	1		0	0	374	0		1	1	0	373	0	430	0	256	1223
CEACAM6	4680	broad.mit.edu	37	19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468																																						ENST00000199764.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(952-954)Gtc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							102.0	93.0	96.0					19																	42266125		2203	4300	6503	SO:0001583	missense	4680	0	0					g.chr19:42266125G>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.952G>T	chr19.hg19:g.42266125G>T	ENSP00000199764:p.Val318Phe	0					AC011513.4_ENST00000601409.1_RNA	p.V318F	NM_002483.4	NP_002474.3	1	2	3	2.010022	P40199	CEAM6_HUMAN		4	1170	+			Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	1	1	hg19	c.952G>T	CCDS12585.1	1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249697	0.39797	.	.	ENSG00000086548	ENST00000199764	T	0.35789	1.29	2.15	-0.101	0.13618	2.15	-0.101	0.13618	Immunoglobulin-like fold (1);	.	.	.	.	T	0.66086	0.2754	H	0.97291	3.975	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.53107	-0.8485	9	0.87932	D	0	.	3.8949	0.09135	0.425:0.0:0.575:0.0	.	318	P40199	CEAM6_HUMAN	F	318	ENSP00000199764:V318F	ENSP00000199764:V318F	V	+	1	0	0	CEACAM6	46957965	46957965	0.693000	0.27728	0.076000	0.20297	0.244000	0.25665	1.830000	0.39131	0.229000	0.21039	0.305000	0.20034	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.476417	1	0.170000				52	51		227	220	1		1	1		0	0	66	0		1	1	0	677	0	715	0	52	227
CEACAM3	1084	broad.mit.edu	37	19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	43	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517																																						ENST00000357396.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(127-129)Ctc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 3							158.0	147.0	150.0					19																	42301583		2203	4300	6503	SO:0001583	missense	1084	0	0					g.chr19:42301583C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.127C>T	chr19.hg19:g.42301583C>T	ENSP00000349971:p.Leu43Phe	0					CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR	p.L43F	NM_001815.2	NP_001806.2	1	2	3	2.010022	P40198	CEAM3_HUMAN		2	368	+			G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	1	1	hg19	c.127C>T	CCDS12586.2	1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.136010	0.09032	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.68903	-0.36;-0.36;-0.36	3.44	-6.21	0.02065	3.44	-6.21	0.02065	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23171	0.0560	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	9	0.14656	T	0.56	.	5.5198	0.16925	0.1327:0.5783:0.1335:0.1555	.	43;43	G5E978;P40198	.;CEAM3_HUMAN	F	43	ENSP00000349971:L43F;ENSP00000221999:L43F;ENSP00000341725:L43F	ENSP00000221999:L43F	L	+	1	0	0	CEACAM3	46993423	46993423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.016000	0.00313	-2.027000	0.00932	-0.439000	0.05793	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	1	0	1		2	2	2	0		0	0	196		196	195	1	2.060000	-20.000000	1	0.170000	NM_001815			177	172		751	733	1		1	1		0	0	196	0		1	3.992663e-01	0	3	0	4	0	177	751
CEACAM3	1084	broad.mit.edu	37	19	42301744	42301744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000344550.4_Silent_p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	96	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463																																						ENST00000357396.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(286-288)agC>agT		carcinoembryonic antigen-related cell adhesion molecule 3							200.0	223.0	215.0					19																	42301744		2198	4300	6498	SO:0001819	synonymous_variant	1084	4	121390	43				g.chr19:42301744C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.288C>T	chr19.hg19:g.42301744C>T		0					CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR	p.S96S	NM_001815.2	NP_001806.2	1	2	3	2.010022	P40198	CEAM3_HUMAN		2	529	+			G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	1	1	hg19	c.288C>T	CCDS12586.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	1	0	1		2	2	2	0		0	0	273		273	272	1	2.060000	-20.000000	1	0.170000	NM_001815			142	134		1043	1014	1		1	0		0	0	273	0		1	4.018159e-02	0	0	0	3	0	142	1043
LYPD4	147719	broad.mit.edu	37	19	42342046	42342046	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000343055.4_Silent_p.A132A|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	167	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488																																						ENST00000330743.3	1.000000	0.330000	9.000000e-01	4.600000e-01	0.640000	0.667826	0.640000	1.000000																										0				12						c.(499-501)gcT>gcA		LY6/PLAUR domain containing 4							64.0	62.0	63.0					19																	42342046		2203	4300	6503	SO:0001819	synonymous_variant	147719	0	0					g.chr19:42342046A>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.501T>A	chr19.hg19:g.42342046A>T		0					LYPD4_ENST00000601246.1_Silent_p.A132A|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A132A	p.A167A	NM_173506.4	NP_775777.3	1	2	3	2.010022	Q6UWN0	LYPD4_HUMAN		4	1712	-			Q8IYW0	Silent	SNP	ENST00000330743.3	1	1	hg19	c.501T>A	CCDS12587.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	1	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-14.038540	1	0.170000	NM_173506			11	11		204	198	0		1			0	0	42	0		9.981999e-01	0	0	0	0	0	0	11	204
LYPD4	147719	broad.mit.edu	37	19	42342146	42342146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342146G>T	ENST00000330743.3	-	4	1612	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	134						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGATGTGATAGACTTAGGAGT	0.522																																						ENST00000330743.3	1.000000	0.270000	6.600000e-01	3.600000e-01	0.480000	0.524504	0.480000	0.460000																										0				12						c.(400-402)tCt>tAt		LY6/PLAUR domain containing 4							133.0	113.0	120.0					19																	42342146		2203	4300	6503	SO:0001583	missense	147719	0	0					g.chr19:42342146G>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.401C>A	chr19.hg19:g.42342146G>T	ENSP00000328737:p.Ser134Tyr	0					LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y	p.S134Y	NM_173506.4	NP_775777.3	1	2	3	2.010022	Q6UWN0	LYPD4_HUMAN		4	1612	-			Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	0	1	hg19	c.401C>A	CCDS12587.1	0	.	.	.	.	.	.	.	.	.	.	g	9.947	1.219168	0.22373	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13420	3.23;2.59	4.13	3.1	0.35709	4.13	3.1	0.35709	.	1.222090	0.05821	N	0.615812	T	0.17450	0.0419	L	0.51422	1.61	0.09310	N	1	P;P	0.39782	0.688;0.561	B;B	0.40659	0.336;0.181	T	0.26189	-1.0110	10	0.62326	D	0.03	-5.1335	7.9833	0.30196	0.1108:0.0:0.8892:0.0	.	99;134	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	134;99	ENSP00000328737:S134Y;ENSP00000339568:S99Y	ENSP00000328737:S134Y	S	-	2	0	0	LYPD4	47033986	47033986	0.005000	0.15991	0.002000	0.10522	0.017000	0.09413	1.495000	0.35627	1.349000	0.45751	-0.389000	0.06534	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	0	0	0		2	2	2	0		0	0	75		75	74	1	2.060000	-14.691660	1	0.170000	NM_173506			14	14		348	339	0		1			0	0	75	0		9.997221e-01	0	0	0	0	0	0	14	348
LYPD4	147719	broad.mit.edu	37	19	42342983	42342983	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000343055.4_Intron|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	61						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493																																						ENST00000330743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(181-183)tgC>tgT		LY6/PLAUR domain containing 4							162.0	149.0	154.0					19																	42342983		2203	4300	6503	SO:0001819	synonymous_variant	147719	0	0					g.chr19:42342983G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.183C>T	chr19.hg19:g.42342983G>A		0					LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Intron	p.C61C	NM_173506.4	NP_775777.3	1	2	3	2.010022	Q6UWN0	LYPD4_HUMAN		3	1394	-			Q8IYW0	Silent	SNP	ENST00000330743.3	1	1	hg19	c.183C>T	CCDS12587.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_173506			132	129		500	494	0		1			0	0	132	0		1	0	0	0	0	0	0	132	500
LYPD4	147719	broad.mit.edu	37	19	42343377	42343377	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42343377C>A	ENST00000330743.3	-	0	1194				LYPD4_ENST00000343055.4_5'Flank|LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGTCTGGGTCCTGGGTGCTAG	0.562																																						ENST00000330743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12								LY6/PLAUR domain containing 4							99.0	94.0	96.0					19																	42343377		2203	4300	6503			147719	0	0					g.chr19:42343377C>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.-18G>T	chr19.hg19:g.42343377C>A		0					LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame|LYPD4_ENST00000343055.4_5'Flank		NM_173506.4	NP_775777.3	1	2	3	2.010022	Q6UWN0	LYPD4_HUMAN		0	1194	-			Q8IYW0	Translation_Start_Site	SNP	ENST00000330743.3	0	1	hg19		CCDS12587.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.487945	1	0.170000	NM_173506			65	65		279	272	0		1			0	0	58	0		1	0	0	0	0	0	0	65	279
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	G	A	rs570158158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647																																						ENST00000269945.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(490-492)tcG>tcA		DMRT-like family C2							84.0	92.0	89.0					19																	42352907		2203	4300	6503	SO:0001819	synonymous_variant	63946	8	121412	44				g.chr19:42352907G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.492G>A	chr19.hg19:g.42352907G>A		0					DMRTC2_ENST00000596827.1_Silent_p.S164S	p.S164S	NM_001040283.1	NP_001035373.1	1	2	3	2.010022	Q8IXT2	DMRTD_HUMAN		5	543	+			Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	1	1	hg19	c.492G>A	CCDS33034.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_001040283			290	285		630	613	1		1			0	0	142	0		1	0	0	0	0	0	0	290	630
ARHGEF1	9138	broad.mit.edu	37	19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000354532.3	+	7	718	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E190D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	190	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCCCGGGAGCGGCACGTGG	0.701																																						ENST00000354532.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(568-570)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 1							14.0	17.0	16.0					19																	42396876		2196	4288	6484	SO:0001583	missense	9138	0	0					g.chr19:42396876G>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.570G>T	chr19.hg19:g.42396876G>T	ENSP00000346532:p.Glu190Asp	0					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E190D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D	p.E190D	NM_004706.3	NP_004697.2	1	2	3	2.010022	Q92888	ARHG1_HUMAN		7	718	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	1	1	hg19	c.570G>T	CCDS12591.1	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641038	0.67244	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.32	-0.579	0.11720	4.32	-0.579	0.11720	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.139750	0.45126	N	0.000394	D	0.90456	0.7011	M	0.76838	2.35	0.36530	D	0.870656	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.987;0.954;0.994	D	0.87937	0.2714	10	0.52906	T	0.07	-23.3088	5.5374	0.17020	0.2854:0.1504:0.5642:0.0	.	172;205;157;190;250	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	190;157;226;205;172	ENSP00000346532:E190D;ENSP00000344429:E157D;ENSP00000337261:E205D;ENSP00000367394:E172D	ENSP00000323044:E226D	E	+	3	2	2	ARHGEF1	47088716	47088716	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	1.784000	0.38674	0.059000	0.16252	0.306000	0.20318	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_199002			28	27		100	96	1		1	1		0	0	15	0		1	1	0	38	0	108	0	28	100
ARHGEF1	9138	broad.mit.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647																																						ENST00000354532.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1483-1485)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 1							61.0	57.0	58.0					19																	42406492		2203	4300	6503	SO:0001583	missense	9138	0	0					g.chr19:42406492G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1483G>A	chr19.hg19:g.42406492G>A	ENSP00000346532:p.Val495Met	0					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M	p.V495M	NM_004706.3	NP_004697.2	1	2	3	2.010022	Q92888	ARHG1_HUMAN		16	1631	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	1	1	hg19	c.1483G>A	CCDS12591.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	0	ARHGEF1	47098332	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_199002			53	53		279	275	1		1	1		0	0	70	0		1	1	0	65	0	166	0	53	279
ATP1A3	478	broad.mit.edu	37	19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000302102.5	-	13	1915	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V602I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	589					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)			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						GCGTCAGGGACGGCTGCCCGG	0.652																																						ENST00000302102.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1765-1767)Gtc>Atc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							61.0	59.0	60.0					19																	42482344		2203	4300	6503	SO:0001583	missense	478	0	0					g.chr19:42482344C>T		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.1765G>A	chr19.hg19:g.42482344C>T	ENSP00000302397:p.Val589Ile	0					ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V602I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	p.V589I	NM_152296.4	NP_689509.1	1	2	3	2.010022	P13637	AT1A3_HUMAN		13	1915	-			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	1	1	hg19	c.1765G>A	CCDS12594.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.167298	0.94768	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;D;T;T	0.96168	-1.36;-3.93;-1.36;-1.36	4.44	4.44	0.53790	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.987	D;P;P;P	0.76575	0.988;0.582;0.829;0.706	D	0.98091	1.0409	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	602;600;589;589	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	589;589;602;559;333;600	ENSP00000302397:V589I;ENSP00000411503:V589I;ENSP00000444688:V602I;ENSP00000437577:V600I	ENSP00000302397:V589I	V	-	1	0	0	ATP1A3	47174184	47174184	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_152296			49	49		228	222	1		1	0		0	0	35	0		1	2.217730e-01	0	0	0	5	0	49	228
GRIK5	2901	broad.mit.edu	37	19	42546761	42546761	+	Silent	SNP	G	G	A	rs377765278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000593562.1_Silent_p.Y472Y|GRIK5_ENST00000301218.4_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	472					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)			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)				CGGGCGCCCCGTACAGCCCAT	0.677																																						ENST00000262895.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1414-1416)taC>taT		glutamate receptor, ionotropic, kainate 5		G		2,4404	2.1+/-5.4	0,2,2201	43.0	47.0	46.0		1416	-9.7	0.5	19		46	0,8598		0,0,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		472/981	42546761	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	2901	3	121276	40				g.chr19:42546761G>A		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.1416C>T	chr19.hg19:g.42546761G>A		0					GRIK5_ENST00000301218.4_Silent_p.Y472Y|GRIK5_ENST00000593562.1_Silent_p.Y472Y	p.Y472Y	NM_002088.4	NP_002079.3	1	2	3	2.010022	Q16478	GRIK5_HUMAN		11	1415	-		Prostate(69;0.059)	Q8WWG8	Silent	SNP	ENST00000262895.3	1	1	hg19	c.1416C>T	CCDS12595.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				88	85		428	419	0		1	0		0	0	76	0		1	2.061734e-01	0	0	0	5	0	88	428
ZNF574	64763	broad.mit.edu	37	19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	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)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCCATTGGGCGGGATCGCCG	0.637																																						ENST00000600245.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(856-858)Cgg>Tgg		zinc finger protein 574							53.0	62.0	59.0					19																	42583614		2203	4300	6503	SO:0001583	missense	64763	1	121408	38				g.chr19:42583614C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.856C>T	chr19.hg19:g.42583614C>T	ENSP00000469029:p.Arg286Trp	0					ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W	p.R286W			1	2	3	2.010022	Q6ZN55	ZN574_HUMAN		2	1511	+		Prostate(69;0.059)	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	1	1	hg19	c.856C>T	CCDS12596.1	1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079695	0.55753	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07327	3.2;3.25	4.96	3.91	0.45181	4.96	3.91	0.45181	.	0.323021	0.21335	N	0.076227	T	0.11281	0.0275	N	0.08118	0	0.28114	N	0.930871	D;D	0.89917	0.999;1.0	P;D	0.70935	0.877;0.971	T	0.17501	-1.0367	10	0.35671	T	0.21	-13.0784	11.9409	0.52901	0.3142:0.6858:0.0:0.0	.	286;375	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	376;286	ENSP00000222339:R376W;ENSP00000351939:R286W	ENSP00000222339:R376W	R	+	1	2	2	ZNF574	47275454	47275454	0.000000	0.05858	0.730000	0.30809	0.922000	0.55478	0.114000	0.15520	1.258000	0.44101	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_022752			114	112		469	460	1		1	1		0	0	69	0		1	9.987531e-01	0	14	0	29	0	114	469
ZNF574	64763	broad.mit.edu	37	19	42585038	42585038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	760					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(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCGCATCCACACAGGTGAGC	0.647																																						ENST00000600245.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2278-2280)caC>caT		zinc finger protein 574							139.0	137.0	138.0					19																	42585038		2203	4300	6503	SO:0001819	synonymous_variant	64763	0	0					g.chr19:42585038C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2280C>T	chr19.hg19:g.42585038C>T		0					ZNF574_ENST00000359044.4_Silent_p.H760H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.H850H	p.H760H			1	2	3	2.010022	Q6ZN55	ZN574_HUMAN		2	2935	+		Prostate(69;0.059)	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	1	1	hg19	c.2280C>T	CCDS12596.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1		2	2	2	0		0	0	210		210	206	1	2.060000	-20.000000	1	0.170000	NM_022752			216	213		1073	1061	1		1	1		0	0	210	0		1	9.997772e-01	0	17	0	44	0	216	1073
ZNF574	64763	broad.mit.edu	37	19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	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)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCAGAACATCGCCGCATCCAC	0.612																																						ENST00000600245.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2437-2439)cGc>cAc		zinc finger protein 574							66.0	66.0	66.0					19																	42585196		2203	4300	6503	SO:0001583	missense	64763	0	0					g.chr19:42585196G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2438G>A	chr19.hg19:g.42585196G>A	ENSP00000469029:p.Arg813His	0					ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H	p.R813H			1	2	3	2.010022	Q6ZN55	ZN574_HUMAN		2	3093	+		Prostate(69;0.059)	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	1	1	hg19	c.2438G>A	CCDS12596.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936183|2.936183	0.52972|0.52972	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.84|4.84	4.84|4.84	0.62591|0.62591	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.077728	.|0.49305	.|D	.|0.000142	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.31845|0.31845	0.965|0.965	0.34860|0.34860	D|D	0.742544|0.742544	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.957;0.982	T|T	0.07908|0.07908	-1.0748|-1.0748	6|10	0.72032|0.48119	D|T	0.01|0.1	-21.3264|-21.3264	7.1979|7.1979	0.25864|0.25864	0.1825:0.0:0.8175:0.0|0.1825:0.0:0.8175:0.0	.|.	.|813;902	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	420|903;813	.|ENSP00000222339:R903H;ENSP00000351939:R813H	ENSP00000445515:A420T|ENSP00000222339:R903H	A|R	+|+	1|2	0|0	0|0	ZNF574|ZNF574	47277036|47277036	47277036|47277036	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.503000|1.503000	0.35715|0.35715	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GCC|CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_022752			96	96		428	423	1		1	1		0	0	106	1		1	9.999967e-01	0	17	0	65	0	96	428
ZNF526	116115	broad.mit.edu	37	19	42729326	42729326	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612																																						ENST00000301215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(769-771)gtC>gtT		zinc finger protein 526							126.0	67.0	87.0					19																	42729326		2202	4300	6502	SO:0001819	synonymous_variant	116115	0	0					g.chr19:42729326C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.771C>T	chr19.hg19:g.42729326C>T		0						p.V257V	NM_133444.1	NP_597701.1	1	2	3	2.010022	Q8TF50	ZN526_HUMAN		3	996	+		Prostate(69;0.0704)	B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	1	1	hg19	c.771C>T	CCDS12598.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	XM_057401			53	50		214	212	1		1	1		0	0	28	0		1	9.966770e-01	0	11	0	27	0	53	214
ERF	2077	broad.mit.edu	37	19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ERF_ENST00000440177.2_Missense_Mutation_p.R408H|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	483					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)			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)				CCGCTTAAAGCGTAGCTTGAG	0.677																																						ENST00000222329.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1447-1449)cGc>cAc		Ets2 repressor factor							35.0	41.0	39.0					19																	42752816		2203	4292	6495	SO:0001583	missense	2077	0	0					g.chr19:42752816C>T	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.1448G>A	chr19.hg19:g.42752816C>T	ENSP00000222329:p.Arg483His	0					ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R408H	p.R483H	NM_006494.2	NP_006485.2	1	2	3	2.010022	P50548	ERF_HUMAN		4	1605	-		Prostate(69;0.00682)	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	1	1	hg19	c.1448G>A	CCDS12600.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448516	0.84101	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39229	2.07;1.09	4.12	4.12	0.48240	4.12	4.12	0.48240	.	0.000000	0.33040	U	0.005349	T	0.58538	0.2129	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62656	-0.6808	10	0.87932	D	0	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	483	P50548	ERF_HUMAN	H	483;408	ENSP00000222329:R483H;ENSP00000388173:R408H	ENSP00000222329:R483H	R	-	2	0	0	ERF	47444656	47444656	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.317000	0.72862	2.297000	0.77311	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_006494			102	101		501	494	1		1	1		0	0	81	0		1	1	0	79	0	195	0	102	501
ERF	2077	broad.mit.edu	37	19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ERF_ENST00000440177.2_Missense_Mutation_p.G339V|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	414					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)			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)				GGCTAGCGCCCCTGCCCCCTC	0.692																																						ENST00000222329.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1240-1242)gGg>gTg		Ets2 repressor factor							31.0	40.0	37.0					19																	42753023		2154	4187	6341	SO:0001583	missense	2077	0	0					g.chr19:42753023C>A	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.1241G>T	chr19.hg19:g.42753023C>A	ENSP00000222329:p.Gly414Val	0					ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.G339V	p.G414V	NM_006494.2	NP_006485.2	1	2	3	2.010022	P50548	ERF_HUMAN		4	1398	-		Prostate(69;0.00682)	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	1	1	hg19	c.1241G>T	CCDS12600.1	1	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341122	0.05243	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.19938	3.16;2.11	4.05	1.71	0.24356	4.05	1.71	0.24356	.	4.932210	0.00424	N	0.000070	T	0.18882	0.0453	L	0.36672	1.1	0.52501	D	0.999958	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.32370	T	0.25	.	6.6114	0.22753	0.1758:0.7224:0.0:0.1018	.	414	P50548	ERF_HUMAN	V	414;339	ENSP00000222329:G414V;ENSP00000388173:G339V	ENSP00000222329:G414V	G	-	2	0	0	ERF	47444863	47444863	0.009000	0.17119	0.815000	0.32552	0.439000	0.31926	0.812000	0.27211	1.042000	0.40150	0.609000	0.83330	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	1		2	2	2	0		0	0	86		86	81	1	2.060000	-3.737933	1	0.170000	NM_006494			188	184		707	686	0		1	1		0	0	86	0		1	1	0	54	0	147	0	188	707
ERF	2077	broad.mit.edu	37	19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	ERF_ENST00000440177.2_Missense_Mutation_p.R254H|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	329					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)			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)				CAGGAAGGCGCGGGGGCTGAG	0.682																																						ENST00000222329.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.989786	0.990000	1.000000																										0				17						c.(985-987)cGc>cAc		Ets2 repressor factor							39.0	46.0	43.0					19																	42753278		2199	4290	6489	SO:0001583	missense	2077	0	0					g.chr19:42753278C>T	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.986G>A	chr19.hg19:g.42753278C>T	ENSP00000222329:p.Arg329His	0					ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R254H	p.R329H	NM_006494.2	NP_006485.2	1	2	3	2.010022	P50548	ERF_HUMAN		4	1143	-		Prostate(69;0.00682)	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	1	1	hg19	c.986G>A	CCDS12600.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116673	0.77323	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.33865	1.39;1.39	4.82	3.78	0.43462	4.82	3.78	0.43462	.	0.148471	0.44902	D	0.000416	T	0.52322	0.1727	L	0.57536	1.79	0.58432	D	0.99999	D	0.76494	0.999	D	0.76071	0.987	T	0.54302	-0.8314	10	0.87932	D	0	.	10.4326	0.44417	0.0:0.9038:0.0:0.0962	.	329	P50548	ERF_HUMAN	H	329;254	ENSP00000222329:R329H;ENSP00000388173:R254H	ENSP00000222329:R329H	R	-	2	0	0	ERF	47445118	47445118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.382000	0.81193	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	0		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_006494			34	33		302	295	1		1	1		0	0	49	0		1	1	0	51	0	259	0	34	302
ERF	2077	broad.mit.edu	37	19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	ERF_ENST00000440177.2_Missense_Mutation_p.S231I|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	306					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)			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)				GTCCTCAGGGCTGAAGGAGAA	0.667																																						ENST00000222329.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				17						c.(916-918)aGc>aTc		Ets2 repressor factor							49.0	53.0	52.0					19																	42753347		2203	4298	6501	SO:0001583	missense	2077	0	0					g.chr19:42753347C>A	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.917G>T	chr19.hg19:g.42753347C>A	ENSP00000222329:p.Ser306Ile	0					ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S231I	p.S306I	NM_006494.2	NP_006485.2	1	2	3	2.010022	P50548	ERF_HUMAN		4	1074	-		Prostate(69;0.00682)	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	1	1	hg19	c.917G>T	CCDS12600.1	1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329046	0.60743	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.29397	1.57;1.57	5.09	4.05	0.47172	5.09	4.05	0.47172	.	0.060727	0.64402	D	0.000007	T	0.14700	0.0355	N	0.08118	0	0.36871	D	0.88889	P	0.45126	0.851	B	0.38880	0.284	T	0.13629	-1.0502	10	0.87932	D	0	.	7.9331	0.29914	0.0:0.8129:0.0:0.1871	.	306	P50548	ERF_HUMAN	I	306;231	ENSP00000222329:S306I;ENSP00000388173:S231I	ENSP00000222329:S306I	S	-	2	0	0	ERF	47445187	47445187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.991000	0.49409	1.271000	0.44313	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_006494			33	33		160	159	1		1	1		0	0	30	0		1	1	0	74	0	222	0	33	160
CIC	23152	broad.mit.edu	37	19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000575354.2	+	6	873	c.833G>A	c.(832-834)aGc>aAc	p.S278N	CIC_ENST00000572681.2_Missense_Mutation_p.S1187N|CIC_ENST00000160740.3_Missense_Mutation_p.S278N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGAAGTCCAGCTCAGAGGCC	0.647			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.350000	1	5.600000e-01	0.850000	0.805420	0.850000	1.000000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(832-834)aGc>aAc		capicua transcriptional repressor							28.0	25.0	26.0					19																	42792029		2202	4300	6502	SO:0001583	missense	23152	0	0					g.chr19:42792029G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.833G>A	chr19.hg19:g.42792029G>A	ENSP00000458663:p.Ser278Asn	0					CIC_ENST00000160740.3_Missense_Mutation_p.S278N|CIC_ENST00000572681.2_Missense_Mutation_p.S1187N	p.S278N	NM_015125.3	NP_055940.3	1	2	3	2.010022	Q96RK0	CIC_HUMAN		6	873	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	0	1	hg19	c.833G>A	CCDS12601.1	1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620010	0.46736	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	4.59	4.59	0.56863	High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.68339	0.2990	L	0.55213	1.73	0.41738	D	0.989599	D	0.69078	0.997	P	0.60789	0.879	T	0.72747	-0.4200	8	0.87932	D	0	-12.7475	14.9544	0.71101	0.0:0.0:1.0:0.0	.	278	Q96RK0	CIC_HUMAN	N	278	.	ENSP00000160740:S278N	S	+	2	0	0	CIC	47483869	47483869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.802000	0.62539	2.391000	0.81399	0.555000	0.69702	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-10.465860	1	0.170000				6	6		84	84	1		1	1		0	0	18	0		9.666917e-01	9.896764e-01	0	15	0	110	0	6	84
CIC	23152	broad.mit.edu	37	19	42795086	42795086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000575354.2	+	10	2206	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P	CIC_ENST00000572681.2_Silent_p.P1631P|CIC_ENST00000160740.3_Silent_p.P722P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTCCCCGCTGGGTGTCA	0.647			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(2164-2166)ccG>ccA		capicua transcriptional repressor							26.0	27.0	26.0					19																	42795086		2199	4293	6492	SO:0001819	synonymous_variant	23152	0	0					g.chr19:42795086G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2166G>A	chr19.hg19:g.42795086G>A		0					CIC_ENST00000160740.3_Silent_p.P722P|CIC_ENST00000572681.2_Silent_p.P1631P	p.P722P	NM_015125.3	NP_055940.3	1	2	3	2.010022	Q96RK0	CIC_HUMAN		10	2206	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	1	1	hg19	c.2166G>A	CCDS12601.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.306756	1	0.170000				38	38		181	180	1		1	1		0	0	61	0		1	9.999998e-01	0	34	0	85	0	38	181
CIC	23152	broad.mit.edu	37	19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000575354.2	+	15	3767	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	CIC_ENST00000572681.2_Missense_Mutation_p.A2150T|CIC_ENST00000160740.3_Missense_Mutation_p.A1241T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1243	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACTCCCACGGCCCGGAGCAG	0.716			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.700000	1	9.900000e-01	0.990000	0.975955	0.990000	1.000000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(3727-3729)Gcc>Acc		capicua transcriptional repressor							9.0	10.0	10.0					19																	42797365		2161	4260	6421	SO:0001583	missense	23152	0	0					g.chr19:42797365G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3727G>A	chr19.hg19:g.42797365G>A	ENSP00000458663:p.Ala1243Thr	0					CIC_ENST00000160740.3_Missense_Mutation_p.A1241T|CIC_ENST00000572681.2_Missense_Mutation_p.A2150T	p.A1243T	NM_015125.3	NP_055940.3	1	2	3	2.010022	Q96RK0	CIC_HUMAN		15	3767	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	0	1	hg19	c.3727G>A	CCDS12601.1	1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404741	0.25378	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	2.06	0.26882	4.54	2.06	0.26882	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.24145	N	0.995716	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	8	0.87932	D	0	-3.0206	4.6748	0.12706	0.1533:0.2077:0.6391:0.0	.	1243	Q96RK0	CIC_HUMAN	T	1243	.	ENSP00000160740:A1243T	A	+	1	0	0	CIC	47489205	47489205	0.635000	0.27199	0.516000	0.27786	0.254000	0.26022	0.944000	0.29043	0.453000	0.26858	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-15.063540	1	0.170000				8	8		58	57	1		1	1		0	0	11	0		9.902991e-01	9.987194e-01	0	27	0	73	0	8	58
CIC	23152	broad.mit.edu	37	19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000575354.2	+	20	4670	c.4630G>A	c.(4630-4632)Gct>Act	p.A1544T	CIC_ENST00000572681.2_Missense_Mutation_p.A2450T|CIC_ENST00000160740.3_Missense_Mutation_p.A1542T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1544	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				cactggcaccgctgctgcccc	0.726			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(4630-4632)Gct>Act		capicua transcriptional repressor							9.0	11.0	11.0					19																	42799146		2176	4261	6437	SO:0001583	missense	23152	4	120564	31				g.chr19:42799146G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4630G>A	chr19.hg19:g.42799146G>A	ENSP00000458663:p.Ala1544Thr	0					CIC_ENST00000160740.3_Missense_Mutation_p.A1542T|CIC_ENST00000572681.2_Missense_Mutation_p.A2450T	p.A1544T	NM_015125.3	NP_055940.3	1	2	3	2.010022	Q96RK0	CIC_HUMAN		20	4670	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	1	1	hg19	c.4630G>A	CCDS12601.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862015	0.32884	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.25	2.12	0.27331	4.25	2.12	0.27331	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.19300	N	0.99998	B	0.12630	0.006	B	0.04013	0.001	T	0.18777	-1.0326	8	0.87932	D	0	-2.1472	3.5746	0.07930	0.2114:0.0:0.5901:0.1984	.	1544	Q96RK0	CIC_HUMAN	T	1544	.	ENSP00000160740:A1544T	A	+	1	0	0	CIC	47490986	47490986	0.046000	0.20272	0.524000	0.27887	0.942000	0.58702	0.040000	0.13905	0.554000	0.29061	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				36	35		123	121	0		1	1		0	0	28	0		1	1	0	29	0	72	0	36	123
SHD	56961	broad.mit.edu	37	19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617																																						ENST00000543264.2	1.000000	0.730000	1	9.000000e-01	0.990000	0.965784	0.990000	1.000000																										0				14						c.(418-420)Ggg>Tgg		Src homology 2 domain containing transforming protein D							47.0	47.0	47.0					19																	4283065		2203	4300	6503	SO:0001583	missense	56961	0	0					g.chr19:4283065G>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.418G>T	chr19.hg19:g.4283065G>T	ENSP00000446058:p.Gly140Trp	0					SHD_ENST00000599689.1_Missense_Mutation_p.G140W	p.G140W	NM_020209.3	NP_064594.3	1	2	3	2.010022	Q96IW2	SHD_HUMAN		3	1881	+			Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	1	1	hg19	c.418G>T	CCDS12125.1	1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833978	0.50951	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.30714	1.52	4.63	1.06	0.20224	4.63	1.06	0.20224	.	0.875466	0.09879	N	0.743981	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	P;P	0.39883	0.693;0.669	P;P	0.48270	0.572;0.572	T	0.32134	-0.9918	10	0.87932	D	0	-5.7012	8.3173	0.32108	0.2958:0.0:0.7042:0.0	.	54;140	Q9NPN8;Q96IW2	.;SHD_HUMAN	W	140;55	ENSP00000446058:G140W	ENSP00000221852:G55W	G	+	1	0	0	SHD	4234065	4234065	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.356000	0.20181	0.189000	0.20188	0.448000	0.29417	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.221884	1	0.170000	NM_020209			24	24		236	232	0		1			0	0	68	0		9.999997e-01	0	0	0	0	0	0	24	236
PAFAH1B3	5050	broad.mit.edu	37	19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000262890.3	-	4	651	c.390G>T	c.(388-390)caG>caT	p.Q130H	PRR19_ENST00000341747.3_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H|PRR19_ENST00000598490.1_5'Flank	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	130					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CAACCCGGGCCTGGGGCTGTC	0.587																																						ENST00000262890.3	1.000000	0.160000	3.800000e-01	2.100000e-01	0.280000	0.341950	0.280000	0.270000																										0				4						c.(388-390)caG>caT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)							124.0	120.0	122.0					19																	42804140		2203	4300	6503	SO:0001583	missense	5050	0	0					g.chr19:42804140C>A	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.390G>T	chr19.hg19:g.42804140C>A	ENSP00000262890:p.Gln130His	0					PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H|PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank	p.Q130H	NM_002573.3	NP_002564.1	1	2	3	2.010022	Q15102	PA1B3_HUMAN		4	651	-		Prostate(69;0.0704)	Q53X88	Missense_Mutation	SNP	ENST00000262890.3	1	1	hg19	c.390G>T	CCDS12602.1	0	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241555	0.39598	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.42900	0.96;0.96	5.59	3.42	0.39159	5.59	3.42	0.39159	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.230320	0.44483	N	0.000445	T	0.32912	0.0845	L	0.61387	1.9	0.41722	D	0.989517	B	0.32425	0.371	B	0.26969	0.075	T	0.11792	-1.0573	10	0.36615	T	0.2	-25.9708	5.0651	0.14578	0.1687:0.6609:0.0:0.1704	.	130	Q15102	PA1B3_HUMAN	H	130	ENSP00000444935:Q130H;ENSP00000262890:Q130H	ENSP00000262890:Q130H	Q	-	3	2	2	PAFAH1B3	47495980	47495980	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.531000	0.23052	0.687000	0.31509	0.563000	0.77884	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	0	0	1		2	2	2	0		0	0	159		159	153	1	2.060000	-3.208166	1	0.170000	NM_002573			18	18		769	738	0		1	1		0	0	159	0		9.999736e-01	9.141862e-01	0	6	0	175	0	18	769
MEGF8	1954	broad.mit.edu	37	19	42837896	42837896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000251268.6	+	2	327	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000334370.4_Silent_p.P109P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	109	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)				CCCGACCTCCGCCCATCGAAG	0.582																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(325-327)ccG>ccA		multiple EGF-like-domains 8							52.0	56.0	55.0					19																	42837896		2077	4211	6288	SO:0001819	synonymous_variant	1954	3	121032	34				g.chr19:42837896G>A	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.327G>A	chr19.hg19:g.42837896G>A		0					MEGF8_ENST00000334370.4_Silent_p.P109P	p.P109P	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		2	327	+		Prostate(69;0.00682)	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	1	1	hg19	c.327G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-3.243415	1	0.170000	NM_001410			48	48		250	242	1		1	0		0	0	79	0		1	9.486013e-01	0	0	0	28	0	48	250
MEGF8	1954	broad.mit.edu	37	19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000251268.6	+	11	1883	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000334370.4_Missense_Mutation_p.P628H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	628					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)			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)				CCACGGGGACCTGGCACCCTG	0.711																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1882-1884)cCt>cAt		multiple EGF-like-domains 8							17.0	21.0	20.0					19																	42848687		2201	4296	6497	SO:0001583	missense	1954	0	0					g.chr19:42848687C>A	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.1883C>A	chr19.hg19:g.42848687C>A	ENSP00000251268:p.Pro628His	0					MEGF8_ENST00000334370.4_Missense_Mutation_p.P628H	p.P628H	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		11	1883	+		Prostate(69;0.00682)	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	1	1	hg19	c.1883C>A		1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.070957	0.20147	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.155915	0.40908	D	0.000999	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57548	0.687;0.823	T	0.05632	-1.0873	10	0.27785	T	0.31	-8.9146	8.7811	0.34792	0.0:0.8953:0.0:0.1047	.	628;628	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	628	ENSP00000334219:P628H;ENSP00000251268:P628H	ENSP00000251268:P628H	P	+	2	0	0	MEGF8	47540527	47540527	0.999000	0.42202	0.415000	0.26534	0.245000	0.25701	5.236000	0.65354	2.139000	0.66308	0.306000	0.20318	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001410			51	50		157	150	1		1	0		0	0	26	0		1	7.906945e-01	0	1	0	10	0	51	157
MEGF8	1954	broad.mit.edu	37	19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000251268.6	+	20	3372	c.3372T>G	c.(3370-3372)caT>caG	p.H1124Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.H1057Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1124					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)			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)				ACTGTGGCCATGGTGTGTGCA	0.682																																						ENST00000251268.6	1.000000	0.860000	1	9.900000e-01	0.990000	0.991791	0.990000	1.000000																										0				50						c.(3370-3372)caT>caG		multiple EGF-like-domains 8							36.0	28.0	31.0					19																	42857101		2201	4294	6495	SO:0001583	missense	1954	0	0					g.chr19:42857101T>G	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.3372T>G	chr19.hg19:g.42857101T>G	ENSP00000251268:p.His1124Gln	0					MEGF8_ENST00000334370.4_Missense_Mutation_p.H1057Q	p.H1124Q	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		20	3372	+		Prostate(69;0.00682)	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	0	1	hg19	c.3372T>G		1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442395	0.43326	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.99	5.41	-4.91	0.03085	5.41	-4.91	0.03085	Epidermal growth factor-like (1);	0.159391	0.42682	D	0.000661	T	0.11537	0.0281	N	0.21194	0.64	0.80722	D	1	P;B	0.34934	0.476;0.22	B;B	0.29267	0.1;0.042	T	0.01071	-1.1461	10	0.62326	D	0.03	-12.568	15.5599	0.76237	0.0:0.6235:0.0:0.3765	.	1124;1057	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1057;1124	ENSP00000334219:H1057Q;ENSP00000251268:H1124Q	ENSP00000251268:H1124Q	H	+	3	2	2	MEGF8	47548941	47548941	0.020000	0.18652	0.953000	0.39169	0.823000	0.46562	-1.492000	0.02300	-0.873000	0.04032	-0.366000	0.07423	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-15.225620	1	0.170000	NM_001410			7	7		34	34	1		1	0		0	0	11	0		9.839208e-01	6.064134e-01	0	0	0	11	0	7	34
MEGF8	1954	broad.mit.edu	37	19	42858175	42858175	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000251268.6	+	22	4010	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	MEGF8_ENST00000334370.4_Splice_Site_p.T1270M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)				ACCCCCTGCACGGTGAGCACT	0.622																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998952	0.990000	1.000000																										0				50						c.(4009-4011)aCg>aTg		multiple EGF-like-domains 8																																				SO:0001630	splice_region_variant	1954	0	0					g.chr19:42858175C>T	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.4011+1C>T	chr19.hg19:g.42858175C>T		0					MEGF8_ENST00000334370.4_Splice_Site_p.T1270M	p.T1337M	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		22	4010	+		Prostate(69;0.00682)	A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	1	0	hg19	c.4010C>T		1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584624	0.65992	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.29917	1.55;1.55	4.81	4.81	0.61882	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.45756	0.1358	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.951;0.997	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.1631	16.8144	0.85729	0.0:1.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1270;1337	ENSP00000334219:T1270M;ENSP00000251268:T1337M	ENSP00000251268:T1337M	T	+	2	0	0	MEGF8	47550015	47550015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.297000	0.43593	2.500000	0.84329	0.655000	0.94253	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.165780	1	0.170000	NM_001410	Missense_Mutation		9	8		29	28	1		1	0		0	0	17	0		9.949854e-01	9.973523e-01	0	0	0	41	0	9	29
MEGF8	1954	broad.mit.edu	37	19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000251268.6	+	30	5305	c.5305G>T	c.(5305-5307)Gga>Tga	p.G1769*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.G1702*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1769					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)			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)				TGCTGGTACAGGAGGTTTCCT	0.572																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				50						c.(5305-5307)Gga>Tga		multiple EGF-like-domains 8							49.0	48.0	48.0					19																	42863068		2203	4299	6502	SO:0001587	stop_gained	1954	0	0					g.chr19:42863068G>T	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.5305G>T	chr19.hg19:g.42863068G>T	ENSP00000251268:p.Gly1769*	0					MEGF8_ENST00000334370.4_Nonsense_Mutation_p.G1702*	p.G1769*	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		30	5305	+		Prostate(69;0.00682)	A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	0	1	hg19	c.5305G>T		1	.	.	.	.	.	.	.	.	.	.	G	47	13.094293	0.99719	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	3.39	-0.167	0.13347	3.39	-0.167	0.13347	.	0.675623	0.12162	N	0.493866	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.0309	2.5615	0.04773	0.276:0.0:0.4938:0.2302	.	.	.	.	X	1702;1769	.	ENSP00000251268:G1769X	G	+	1	0	0	MEGF8	47554908	47554908	0.001000	0.12720	0.002000	0.10522	0.184000	0.23303	0.106000	0.15354	-0.048000	0.13401	0.462000	0.41574	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_001410			20	20		81	75	1		1	0		0	0	14	0		9.999960e-01	1.896135e-01	0	0	0	4	0	20	81
MEGF8	1954	broad.mit.edu	37	19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000251268.6	+	34	5947	c.5947C>T	c.(5947-5949)Cga>Tga	p.R1983*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.R1916*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1983					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)			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)				GATCAACCAGCGAGAGGTCTT	0.627																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(5947-5949)Cga>Tga		multiple EGF-like-domains 8							117.0	100.0	106.0					19																	42866638		2203	4300	6503	SO:0001587	stop_gained	1954	1	121408	36				g.chr19:42866638C>T	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.5947C>T	chr19.hg19:g.42866638C>T	ENSP00000251268:p.Arg1983*	0					MEGF8_ENST00000334370.4_Nonsense_Mutation_p.R1916*	p.R1983*	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		34	5947	+		Prostate(69;0.00682)	A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	0	1	hg19	c.5947C>T		1	.	.	.	.	.	.	.	.	.	.	C	48	14.208143	0.99784	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.43	3.27	0.37495	5.43	3.27	0.37495	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7193	13.577	0.61879	0.2843:0.7157:0.0:0.0	.	.	.	.	X	1916;1983	.	ENSP00000251268:R1983X	R	+	1	2	2	MEGF8	47558478	47558478	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	2.282000	0.43461	0.658000	0.30925	-0.311000	0.09066	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_001410			137	136		558	552	1		1	0		0	0	158	0		1	9.742220e-01	0	0	0	26	0	137	558
MEGF8	1954	broad.mit.edu	37	19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000251268.6	+	35	6160	c.6160C>T	c.(6160-6162)Cca>Tca	p.P2054S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1987S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2054					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)			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)				ATCATCACCCCCACTGCCCTG	0.622																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(6160-6162)Cca>Tca		multiple EGF-like-domains 8							131.0	109.0	117.0					19																	42867301		2203	4299	6502	SO:0001583	missense	1954	0	0					g.chr19:42867301C>T	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.6160C>T	chr19.hg19:g.42867301C>T	ENSP00000251268:p.Pro2054Ser	0					MEGF8_ENST00000334370.4_Missense_Mutation_p.P1987S	p.P2054S	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		35	6160	+		Prostate(69;0.00682)	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	1	1	hg19	c.6160C>T		1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250896	0.59212	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.22589	0.0545	N	0.16790	0.44	0.80722	D	1	B;D	0.57571	0.006;0.98	B;P	0.50617	0.013;0.646	T	0.02307	-1.1179	10	0.49607	T	0.09	-9.6731	17.701	0.88294	0.0:1.0:0.0:0.0	.	2054;1987	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1987;2054	ENSP00000334219:P1987S;ENSP00000251268:P2054S	ENSP00000251268:P2054S	P	+	1	0	0	MEGF8	47559141	47559141	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.334000	0.65923	2.556000	0.86216	0.508000	0.49915	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-19.977200	1	0.170000	NM_001410			28	28		86	82	1		1	0		0	0	26	0		1	9.902889e-01	0	1	0	25	0	28	86
MEGF8	1954	broad.mit.edu	37	19	42874461	42874461	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	ENST00000251268.6	+	39	6955	c.6955T>C	c.(6955-6957)Tta>Cta	p.L2319L	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Silent_p.L2252L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2319					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)			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)				CAGGAAGGAGTTACAAATGTC	0.592																																						ENST00000251268.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999788	0.990000	1.000000																										0				50						c.(6955-6957)Tta>Cta		multiple EGF-like-domains 8							39.0	36.0	37.0					19																	42874461		2203	4299	6502	SO:0001819	synonymous_variant	1954	0	0					g.chr19:42874461T>C	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.6955T>C	chr19.hg19:g.42874461T>C		0					MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Silent_p.L2252L	p.L2319L	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		39	6955	+		Prostate(69;0.00682)	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	0	1	hg19	c.6955T>C		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_001410			19	19		94	92	0		1	1		0	0	21	0		9.999940e-01	9.629377e-01	0	2	0	28	0	19	94
MEGF8	1954	broad.mit.edu	37	19	42880264	42880264	+	Silent	SNP	C	C	T	rs572813671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42880264C>T	ENST00000251268.6	+	42	7875	c.7875C>T	c.(7873-7875)ccC>ccT	p.P2625P	MEGF8_ENST00000378073.4_Silent_p.P219P|MEGF8_ENST00000334370.4_Silent_p.P2558P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2625					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)			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)				CAAGTGGGCCCGGCGCCAACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		14191	0.0		0.0	False		,,,				2504	0.001					ENST00000251268.6	1.000000	0.110000	4.000000e-01	1.700000e-01	0.260000	0.327528	0.260000	0.230000																										0				50						c.(7873-7875)ccC>ccT		multiple EGF-like-domains 8							32.0	30.0	31.0					19																	42880264		2203	4299	6502	SO:0001819	synonymous_variant	1954	2	121342	37				g.chr19:42880264C>T	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.7875C>T	chr19.hg19:g.42880264C>T		0					MEGF8_ENST00000378073.4_Silent_p.P219P|MEGF8_ENST00000334370.4_Silent_p.P2558P	p.P2625P	NM_001271938.1	NP_001258867.1	1	2	3	2.010022	Q7Z7M0	MEGF8_HUMAN		42	7875	+		Prostate(69;0.00682)	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	0	1	hg19	c.7875C>T		0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	0	0	0		2	2	2	0		0	0	35		35	32	1	2.060000	-7.017731	1	0.170000	NM_001410			7	6		340	325	0		1	0		0	0	35	0		9.773672e-01	1.705348e-01	0	0	0	31	0	7	340
LIPE	3991	broad.mit.edu	37	19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	730					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAAGCAGAGGTTCCCGCCT	0.657																																						ENST00000244289.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2188-2190)Ctc>Atc		lipase, hormone-sensitive							55.0	54.0	55.0					19																	42910490		2203	4300	6503	SO:0001583	missense	3991	0	0					g.chr19:42910490G>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2188C>A	chr19.hg19:g.42910490G>T	ENSP00000244289:p.Leu730Ile	0					LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank	p.L730I	NM_005357.2	NP_005348.2	1	2	3	2.010022	Q05469	LIPS_HUMAN		7	2464	-		Prostate(69;0.00682)	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	1	1	hg19	c.2188C>A	CCDS12607.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268992	0.80469	.	.	ENSG00000079435	ENST00000244289	T	0.19938	2.11	4.74	4.74	0.60224	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.208552	0.30959	N	0.008530	T	0.39627	0.1085	M	0.88775	2.98	0.46901	D	0.999244	B	0.24920	0.114	B	0.34590	0.186	T	0.47209	-0.9135	10	0.62326	D	0.03	-21.1728	16.925	0.86174	0.0:0.0:1.0:0.0	.	730	Q05469	LIPS_HUMAN	I	730	ENSP00000244289:L730I	ENSP00000244289:L730I	L	-	1	0	0	LIPE	47602330	47602330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.367000	0.80283	0.579000	0.79373	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_005357			46	44		224	215	1		1	1		0	0	49	0		1	8.883796e-01	0	5	0	16	0	46	224
TMIGD2	126259	broad.mit.edu	37	19	4292780	4292780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4292780T>C	ENST00000301272.2	-	5	710	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	222					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)			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)		GGAGGTTGAATAAATGCTCTG	0.672																																						ENST00000301272.2	1.000000	0.120000	4.000000e-01	1.800000e-01	0.260000	0.331752	0.260000	0.250000																										0				19						c.(664-666)tAt>tGt		transmembrane and immunoglobulin domain containing 2							36.0	42.0	40.0					19																	4292780		2203	4300	6503	SO:0001583	missense	126259	0	0					g.chr19:4292780T>C	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.665A>G	chr19.hg19:g.4292780T>C	ENSP00000301272:p.Tyr222Cys	0					TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C	p.Y222C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	1	2	3	2.010022	Q96BF3	TMIG2_HUMAN		5	710	-			Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	0	1	hg19	c.665A>G	CCDS12126.1	0	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956511	0.34565	.	.	ENSG00000167664	ENST00000301272	T	0.55588	0.51	3.04	0.695	0.18070	3.04	0.695	0.18070	.	.	.	.	.	T	0.55321	0.1913	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.45175	-0.9279	9	0.66056	D	0.02	.	7.3198	0.26521	0.0:0.0:0.4456:0.5544	.	218;222	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	C	222	ENSP00000301272:Y222C	ENSP00000301272:Y222C	Y	-	2	0	0	TMIGD2	4243780	4243780	0.699000	0.27786	0.000000	0.03702	0.076000	0.17211	1.622000	0.36997	-0.039000	0.13602	0.454000	0.30748	TAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-9.225834	1	0.170000	NM_144615			9	9		419	408	0		1	0		0	0	51	0		9.936121e-01	1.739618e-03	0	0	0	3	0	9	419
LIPE	3991	broad.mit.edu	37	19	42911420	42911420	+	Silent	SNP	G	G	A	rs371461266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	681					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGAGTAGTCGATGGAGATGA	0.662																																						ENST00000244289.4	1.000000	0.600000	1	8.800000e-01	0.990000	0.952402	0.990000	1.000000																										0				32						c.(2041-2043)atC>atT		lipase, hormone-sensitive		G		1,4405		0,1,2202	24.0	23.0	23.0		2043	-0.4	1.0	19		23	0,8596		0,0,4298	no	coding-synonymous	LIPE	NM_005357.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		681/1077	42911420	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3991	2	121232	27				g.chr19:42911420G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2043C>T	chr19.hg19:g.42911420G>A		0					LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank	p.I681I	NM_005357.2	NP_005348.2	1	2	3	2.010022	Q05469	LIPS_HUMAN		6	2319	-		Prostate(69;0.00682)	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	0	1	hg19	c.2043C>T	CCDS12607.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-14.248940	1	0.170000	NM_005357			8	8		70	69	1		1	0		0	0	12	0		9.901334e-01	5.621003e-01	0	1	0	16	0	8	70
STAP2	55620	broad.mit.edu	37	19	4325511	4325511	+	Silent	SNP	C	C	T	rs145032917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4325511C>T	ENST00000594605.1	-	10	984	c.861G>A	c.(859-861)ccG>ccA	p.P287P	STAP2_ENST00000600324.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	287	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		CAGGTGACAGCGGCTTGGGGC	0.622													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15876	0.0		0.0	False		,,,				2504	0.0					ENST00000594605.1	1.000000	0.140000	3.500000e-01	1.900000e-01	0.250000	0.319276	0.250000	0.250000																										0				23						c.(859-861)ccG>ccA		signal transducing adaptor family member 2							78.0	85.0	83.0					19																	4325511		2203	4300	6503	SO:0001819	synonymous_variant	55620	12	121406	45				g.chr19:4325511C>T	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.861G>A	chr19.hg19:g.4325511C>T		0					STAP2_ENST00000600324.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	p.P287P	NM_001013841.1	NP_001013863.1	1	2	3	2.010022	Q9UGK3	STAP2_HUMAN		10	984	-		Hepatocellular(1079;0.137)	A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	0	1	hg19	c.861G>A	CCDS45926.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	0	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-2.477257	0	0.170000	NM_001013841			16	16		755	733	0		1	1		0	0	120	0		9.999137e-01	8.968853e-01	0	4	0	185	0	16	755
PSG3	5671	broad.mit.edu	37	19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	329					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.488																																						ENST00000327495.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(985-987)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 3							116.0	104.0	109.0					19																	43233933		1511	2707	4218	SO:0001583	missense	5671	0	0					g.chr19:43233933G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.985C>T	chr19.hg19:g.43233933G>A	ENSP00000332215:p.Leu329Phe	0					PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	p.L329F	NM_021016.3	NP_066296.2	1	2	3	2.010022	Q16557	PSG3_HUMAN		4	1169	-		Prostate(69;0.00682)	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	1	1	hg19	c.985C>T	CCDS12611.1	1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300189	0.23650	.	.	ENSG00000221826	ENST00000327495	T	0.10960	2.82	1.36	-0.148	0.13424	1.36	-0.148	0.13424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25644	0.0624	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.12656	-1.0539	9	0.31617	T	0.26	.	4.6649	0.12660	0.0:0.4105:0.5895:0.0	.	307;329	Q08266;Q16557	.;PSG3_HUMAN	F	329	ENSP00000332215:L329F	ENSP00000332215:L329F	L	-	1	0	0	PSG3	47925773	47925773	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.655000	0.01982	0.696000	0.31696	0.400000	0.26472	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	1	0	1		2	2	2	0		0	0	150		150	187	1	2.060000	-3.020402	1	0.170000	NM_021016			81	70		437	361	0		1			0	0	150	0		1	0	0	0	0	0	0	81	437
PSG8	440533	broad.mit.edu	37	19	43258660	43258660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000306511.4	-	5	1165	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Silent_p.A356A|PSG8_ENST00000406636.3_Silent_p.A234A	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region (GO:0005576)				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)				GGTTAGAGTCCGCAGAACAGG	0.453																																						ENST00000306511.4	1.000000	0.280000	5.000000e-01	3.400000e-01	0.400000	0.457747	0.400000	0.400000																										0				40						c.(1066-1068)gcG>gcA		pregnancy specific beta-1-glycoprotein 8							126.0	139.0	135.0					19																	43258660		2203	4296	6499	SO:0001819	synonymous_variant	440533	2	121406	40				g.chr19:43258660C>T	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.1068G>A	chr19.hg19:g.43258660C>T		0					PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Silent_p.A356A|PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A	p.A356A	NM_182707.2	NP_874366.1	1	2	3	2.010022	Q9UQ74	PSG8_HUMAN		5	1165	-		Prostate(69;0.00899)	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	1	1	hg19	c.1068G>A	CCDS33037.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	0	0	1		2	2	2	0		0	0	241		241	299	1	2.060000	-2.233558	0	0.170000				36	35		1028	982	0		1			0	0	241	0		1	0	0	0	0	0	0	36	1028
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000306511.4	-	4	935	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L280F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.L280I(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)				CTGACCGGGAGGCTCTGACCA	0.448																																						ENST00000306511.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L280I(1)	prostate(1)	40						c.(838-840)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 8							73.0	79.0	77.0					19																	43259290		2202	4280	6482	SO:0001583	missense	440533	0	0					g.chr19:43259290G>A	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.838C>T	chr19.hg19:g.43259290G>A	ENSP00000305005:p.Leu280Phe	0					PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L280F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F	p.L280F	NM_182707.2	NP_874366.1	1	2	3	2.010022	Q9UQ74	PSG8_HUMAN		4	935	-		Prostate(69;0.00899)	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	0	1	hg19	c.838C>T	CCDS33037.1	1	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089014	0.20390	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.26	0.133	0.14766	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43875	0.1267	M	0.93550	3.43	0.09310	N	1	D;D;D;D;P;P	0.89917	0.997;1.0;1.0;0.999;0.482;0.538	D;D;D;D;B;P	0.97110	0.977;1.0;0.997;0.997;0.333;0.464	T	0.19289	-1.0310	9	0.62326	D	0.03	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	280;158;187;92;187;280	ENSP00000385869:L280F;ENSP00000385081:L158F;ENSP00000386090:L187F;ENSP00000305005:L280F	ENSP00000305005:L280F	L	-	1	0	0	PSG8	47951130	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	1	0	1		7	2	2	0		0	1	266		266	450	1	2.060000	-20.000000	1	0.170000				196	91		830	449	0		1			0	0	266	0		1	0	0	0	0	0	0	196	830
PSG8	440533	broad.mit.edu	37	19	43359721	43359721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43359721C>T	ENST00000401467.2	-	1	122	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region (GO:0005576)				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)				TGAGCAGGACCCCCTTCCATT	0.567																																						ENST00000401467.2	1.000000	0.330000	6.400000e-01	4.100000e-01	0.500000	0.544449	0.500000	0.490000																										0				40						c.(49-51)ggG>ggA		pregnancy specific beta-1-glycoprotein 8																																				SO:0001819	synonymous_variant	440533	0	0					g.chr19:43359721C>T	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	ENST00000401467.2:c.51G>A	chr19.hg19:g.43359721C>T		0					PSG10P_ENST00000597171.1_RNA	p.G17G			1	2	3	2.010022	Q9UQ74	PSG8_HUMAN		1	122	-		Prostate(69;0.00899)	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000401467.2	1	0	hg19	c.51G>A		0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1	1	0	1		2	2	2	0		0	0	140		140	137	1	2.060000	-3.837835	1	0.170000				27	27		625	610	0		1			0	0	140	0		9.999999e-01	0	0	0	0	0	0	27	625
SHC2	25759	broad.mit.edu	37	19	436418	436418	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	263	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTAGGCCACGTAATCCGTCAT	0.716																																						ENST00000264554.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(787-789)tAc>tGc		SHC (Src homology 2 domain containing) transforming protein 2							24.0	29.0	27.0					19																	436418		1904	4098	6002	SO:0001583	missense	25759	0	0					g.chr19:436418T>C	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.788A>G	chr19.hg19:g.436418T>C	ENSP00000264554:p.Tyr263Cys	0						p.Y263C	NM_012435.2	NP_036567.2	1	2	3	2.010022	P98077	SHC2_HUMAN		6	787	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	1	1	hg19	c.788A>G	CCDS45891.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952042	0.73787	.	.	ENSG00000129946	ENST00000264554	T	0.15372	2.43	4.67	4.67	0.58626	4.67	4.67	0.58626	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55854	-0.8075	10	0.87932	D	0	-31.1631	13.588	0.61942	0.0:0.0:0.0:1.0	.	263	P98077	SHC2_HUMAN	C	263	ENSP00000264554:Y263C	ENSP00000264554:Y263C	Y	-	2	0	0	SHC2	387418	387418	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.432000	0.80349	1.887000	0.54652	0.352000	0.21897	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000				67	67		241	238	1		1	1		0	0	40	0		1	1	0	39	0	108	0	67	241
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D258Y(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)				CAGGACAAGTCGAGGTTCTCT	0.448																																						ENST00000401740.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D258Y(1)	lung(1)	26						c.(772-774)Gac>Aac		pregnancy specific beta-1-glycoprotein 11							133.0	143.0	139.0					19																	43519460		2200	4298	6498	SO:0001583	missense	5680	5	121334	44				g.chr19:43519460C>T	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.772G>A	chr19.hg19:g.43519460C>T	ENSP00000384995:p.Asp258Asn	0					PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000306322.7_Missense_Mutation_p.D136N	p.D258N			1	2	3	2.010022	Q00887	PSG9_HUMAN		4	875	-		Prostate(69;0.00682)	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	1	1	hg19	c.772G>A	CCDS12614.2	1	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	0	PSG11	48211300	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	1	0	1		2	2	2	0		0	0	181		181	180	1	2.060000	-4.099104	1	0.170000	NM_002785			193	186		715	706	1		1			0	0	181	0		1	0	0	0	0	0	0	193	715
PSG5	5673	broad.mit.edu	37	19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000366175.3	-	4	1071	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T|PSG5_ENST00000404580.1_Missense_Mutation_p.K314T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	314	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458																																						ENST00000366175.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(940-942)aAa>aCa		pregnancy specific beta-1-glycoprotein 5							114.0	139.0	130.0					19																	43679390		2202	4294	6496	SO:0001583	missense	5673	0	0					g.chr19:43679390T>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.941A>C	chr19.hg19:g.43679390T>G	ENSP00000382334:p.Lys314Thr	0					PSG5_ENST00000407356.1_Missense_Mutation_p.K314T|PSG5_ENST00000404580.1_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000407568.1_Intron	p.K314T			1	2	3	2.010022	Q15238	PSG5_HUMAN		4	1071	-		Prostate(69;0.00899)	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	0	1	hg19	c.941A>C	CCDS12617.1	1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374823	0.00207	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	1.25	-0.00511	0.14018	1.25	-0.00511	0.14018	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.17722	0.019;0.006	T	0.43393	-0.9394	9	0.02654	T	1	.	4.6039	0.12366	0.0:0.0:0.626:0.374	.	407;314	Q15228;Q15238	.;PSG5_HUMAN	T	314	ENSP00000382334:K314T;ENSP00000386008:K314T;ENSP00000344413:K314T;ENSP00000385250:K314T	ENSP00000344413:K314T	K	-	2	0	0	PSG5	48371230	48371230	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-0.160000	0.11002	-1.566000	0.00877	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	1	0	1		2	2	2	0		0	0	271		271	299	1	2.060000	-20.000000	1	0.170000	NM_002781			190	159		1010	892	1		1			0	0	271	0		1	0	0	0	0	0	0	190	1010
PSG5	5673	broad.mit.edu	37	19	43680235	43680235	+	Missense_Mutation	SNP	C	C	T	rs142461950	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43680235C>T	ENST00000366175.3	-	3	626	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	PSG5_ENST00000599812.1_Missense_Mutation_p.A259T|PSG5_ENST00000407356.1_Missense_Mutation_p.A166T|PSG5_ENST00000404580.1_Missense_Mutation_p.A166T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.A166T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	166	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CAGGTGAAGGCTAAGACATCC	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0					ENST00000366175.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(496-498)Gcc>Acc		pregnancy specific beta-1-glycoprotein 5							218.0	203.0	208.0					19																	43680235		2202	4296	6498	SO:0001583	missense	5673	26	121394	50				g.chr19:43680235C>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.496G>A	chr19.hg19:g.43680235C>T	ENSP00000382334:p.Ala166Thr	0					PSG5_ENST00000407356.1_Missense_Mutation_p.A166T|PSG5_ENST00000404580.1_Missense_Mutation_p.A166T|PSG5_ENST00000599812.1_Missense_Mutation_p.A259T|PSG5_ENST00000342951.6_Missense_Mutation_p.A166T|PSG5_ENST00000407568.1_Intron	p.A166T			1	2	3	2.010022	Q15238	PSG5_HUMAN		3	626	-		Prostate(69;0.00899)	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	1	0	hg19	c.496G>A	CCDS12617.1	1	.	.	.	.	.	.	.	.	.	.	c	2.797	-0.250067	0.05867	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	0.652	0.652	0.17823	0.652	0.652	0.17823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.05031	-0.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.003	T	0.46707	-0.9172	8	0.21014	T	0.42	.	.	.	.	.	259;166	Q15228;Q15238	.;PSG5_HUMAN	T	166	ENSP00000382334:A166T;ENSP00000386008:A166T;ENSP00000344413:A166T;ENSP00000385250:A166T	ENSP00000344413:A166T	A	-	1	0	0	PSG5	48372075	48372075	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.921000	0.01569	0.630000	0.30394	0.184000	0.17185	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	0	1		2	2	2	0		0	0	312		312	371	1	2.060000	-1.180470	0	0.170000	NM_002781			270	252		1170	1122	1		1			0	0	312	0		1	0	0	0	0	0	0	270	1170
PSG5	5673	broad.mit.edu	37	19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000366175.3	-	2	386	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S|PSG5_ENST00000404580.1_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	86	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438																																						ENST00000366175.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(256-258)Ggt>Agt		pregnancy specific beta-1-glycoprotein 5							264.0	253.0	257.0					19																	43689108		2203	4295	6498	SO:0001583	missense	5673	9	121390	47				g.chr19:43689108C>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.256G>A	chr19.hg19:g.43689108C>T	ENSP00000382334:p.Gly86Ser	0					PSG5_ENST00000407356.1_Missense_Mutation_p.G86S|PSG5_ENST00000404580.1_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S	p.G86S			1	2	3	2.010022	Q15238	PSG5_HUMAN		2	386	-		Prostate(69;0.00899)	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	1	1	hg19	c.256G>A	CCDS12617.1	1	.	.	.	.	.	.	.	.	.	.	N	0.169	-1.073275	0.01918	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	1.56	-3.12	0.05282	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33294	0.0858	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.12156	0.007;0.007;0.002;0.004	T	0.20273	-1.0280	9	0.10377	T	0.69	.	4.6263	0.12479	0.0:0.511:0.218:0.2709	.	86;86;86;86	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	S	86	ENSP00000382334:G86S;ENSP00000386008:G86S;ENSP00000386053:G86S;ENSP00000344413:G86S;ENSP00000385250:G86S	ENSP00000344413:G86S	G	-	1	0	0	PSG5	48380948	48380948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.628000	0.02031	-1.539000	0.01732	-0.771000	0.03389	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	0	1		17	2	2	0		0	1	356		356	353	1	2.060000	-2.477387	0	0.170000	NM_002781			336	330		1397	1378	1		1			0	0	356	0		1	0	0	0	0	0	0	336	1397
PSG4	5672	broad.mit.edu	37	19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000244295.9_Missense_Mutation_p.S243I|PSG4_ENST00000433626.2_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	336	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGGTAAATGCTGGGGAGGTC	0.483																																						ENST00000405312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1006-1008)aGc>aTc		pregnancy specific beta-1-glycoprotein 4							129.0	136.0	134.0					19																	43698728		2201	4295	6496	SO:0001583	missense	5672	0	0					g.chr19:43698728C>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1007G>T	chr19.hg19:g.43698728C>A	ENSP00000384770:p.Ser336Ile	0					PSG4_ENST00000244295.9_Missense_Mutation_p.S243I|PSG4_ENST00000433626.2_Missense_Mutation_p.S243I	p.S336I	NM_002780.3	NP_002771.2	1	2	3	2.010022	Q00888	PSG4_HUMAN		5	1244	-		Prostate(69;0.00682)	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	1	1	hg19	c.1007G>T	CCDS46093.1	1	.	.	.	.	.	.	.	.	.	.	c	2.508	-0.313692	0.05422	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.11495	2.77;2.77;2.77	1.4	0.141	0.14811	1.4	0.141	0.14811	Immunoglobulin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.13140	0.3	0.09310	N	1	B;B;B	0.32302	0.048;0.001;0.363	B;B;P	0.50896	0.189;0.005;0.653	T	0.51356	-0.8716	9	0.17369	T	0.5	.	5.4507	0.16563	0.0:0.389:0.611:0.0	.	243;243;336	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	243;336;243	ENSP00000244295:S243I;ENSP00000384770:S336I;ENSP00000387864:S243I	ENSP00000244295:S243I	S	-	2	0	0	PSG4	48390568	48390568	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.180000	0.03088	-0.099000	0.12263	-0.551000	0.04211	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	1	0	1		2	2	2	0		0	0	232		232	233	1	2.060000	-20.000000	1	0.170000	NM_213633			189	179		805	783	1		1	0		0	0	232	0		1	0	0	0	0	1	0	189	805
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000270077.3	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG9_ENST00000418820.2_Splice_Site_p.S144S|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				TGGGCAGCTTCGCTGTGTGGA	0.493																																						ENST00000270077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(709-711)ccG>ccA		pregnancy specific beta-1-glycoprotein 9																																				SO:0001630	splice_region_variant	5678	8	120006	43				g.chr19:43763286C>T	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.710-1G>A	chr19.hg19:g.43763286C>T		0					PSG9_ENST00000418820.2_Splice_Site_p.S144S|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S	p.P237P	NM_002784.3	NP_002775.3	1	2	3	2.010022	Q00887	PSG9_HUMAN		4	807	-		Prostate(69;0.00682)	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	1	0	hg19	c.711G>A	CCDS12618.1	1	.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	0	PSG9	48455126	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	1	0	1		2	2	2	0		0	0	249		249	249	1	2.060000	-20.000000	1	0.170000	NM_002784	Silent		173	158		989	966	1		1			0	0	249	0		1	0	0	0	0	0	0	173	989
PSG9	5678	broad.mit.edu	37	19	43766205	43766205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000270077.3	-	3	612	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Silent_p.E172E|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	172	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				CGTCCAGAGTCTCAGGATCAC	0.527																																						ENST00000270077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(514-516)gaG>gaA		pregnancy specific beta-1-glycoprotein 9							241.0	234.0	236.0					19																	43766205		2203	4300	6503	SO:0001819	synonymous_variant	5678	0	0					g.chr19:43766205C>T	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.516G>A	chr19.hg19:g.43766205C>T		0					PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000244293.7_Silent_p.E172E|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron	p.E172E	NM_002784.3	NP_002775.3	1	2	3	2.010022	Q00887	PSG9_HUMAN		3	612	-		Prostate(69;0.00682)	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	1	1	hg19	c.516G>A	CCDS12618.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	1	0	0		2	2	2	0		0	0	313		313	312	1	2.060000	-20.000000	1	0.170000	NM_002784			295	287		1217	1208	0		1			0	0	313	0		1	0	0	0	0	0	0	295	1217
CD177	57126	broad.mit.edu	37	19	43858441	43858441	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000607517.1	+	0	332				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACCGGATGGGCCCCGGCCTCT	0.657																																						ENST00000607517.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5								CD177 molecule							44.0	56.0	52.0					19																	43858441		2003	4150	6153			57126	0	0					g.chr19:43858441C>A	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		chr19.hg19:g.43858441C>A		0					CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA				1	2	3	2.010022	Q8N6Q3	CD177_HUMAN		0	332	+		Prostate(69;0.00682)	Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	1	0	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	0	0	0		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_020406			46	46		211	211	1		1	0		0	0	44	0		1	3.350163e-02	0	0	0	2	0	46	211
SH3GL1	6455	broad.mit.edu	37	19	4400336	4400336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	CHAF1A_ENST00000301280.5_5'Flank|SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	10	Membrane-binding amphipathic helix. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGCCTTGTAGAACTGCTTCT	0.771			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3	1.000000	0.750000	1	9.500000e-01	0.990000	0.975795	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)				L	L	MLL		AL		0				26						c.(28-30)ttC>ttT		SH3-domain GRB2-like 1							10.0	12.0	11.0					19																	4400336		2131	4172	6303	SO:0001819	synonymous_variant	6455	0	0					g.chr19:4400336G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.30C>T	chr19.hg19:g.4400336G>A		0					CHAF1A_ENST00000301280.5_5'Flank|SH3GL1_ENST00000598564.1_Silent_p.F10F|SH3GL1_ENST00000417295.2_Silent_p.F10F	p.F10F	NM_003025.3	NP_003016.1	1	2	3	2.010022	Q99961	SH3G1_HUMAN		1	208	-			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	1	1	hg19	c.30C>T	CCDS32874.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_003025			20	19		182	176	0		1	1		0	0	30	0		9.999950e-01	9.999905e-01	0	27	0	155	0	20	182
PHLDB3	653583	broad.mit.edu	37	19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	361							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCACGGCATCCTGGAGCACC	0.612																																						ENST00000292140.5	1.000000	0.240000	1	4.000000e-01	0.630000	0.661891	0.630000	1.000000																										0				7						c.(1081-1083)Gat>Tat		pleckstrin homology-like domain, family B, member 3							38.0	47.0	44.0					19																	43998922		2096	4232	6328	SO:0001583	missense	653583	0	0					g.chr19:43998922C>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1081G>T	chr19.hg19:g.43998922C>A	ENSP00000292140:p.Asp361Tyr	0						p.D361Y	NM_198850.3	NP_942147.3	1	2	3	2.010022	Q6NSJ2	PHLB3_HUMAN		9	1441	-		Prostate(69;0.0153)	Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	0	1	hg19	c.1081G>T	CCDS12621.2	0	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646014	0.47258	.	.	ENSG00000176531	ENST00000292140	T	0.52526	0.66	4.6	4.6	0.57074	4.6	4.6	0.57074	.	.	.	.	.	T	0.56232	0.1971	L	0.29908	0.895	0.33992	D	0.649202	D;D	0.89917	0.986;1.0	P;D	0.83275	0.579;0.996	T	0.66705	-0.5856	9	0.56958	D	0.05	.	13.3415	0.60547	0.0:1.0:0.0:0.0	.	65;361	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	361	ENSP00000292140:D361Y	ENSP00000292140:D361Y	D	-	1	0	0	PHLDB3	48690762	48690762	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.744000	0.55112	2.266000	0.75297	0.460000	0.39030	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-8.680983	1	0.170000				5	5		98	96	1		1	1		0	0	28	0		9.358919e-01	6.270151e-01	0	9	0	31	0	5	98
ETHE1	23474	broad.mit.edu	37	19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000292147.2	-	4	514	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000600651.1_Missense_Mutation_p.A150T	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	150					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572																																						ENST00000292147.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999790	0.990000	1.000000																										0				5						c.(448-450)Gcc>Acc		ethylmalonic encephalopathy 1							103.0	76.0	85.0					19																	44015646		2203	4300	6503	SO:0001583	missense	23474	1	121412	30				g.chr19:44015646C>T		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.448G>A	chr19.hg19:g.44015646C>T	ENSP00000292147:p.Ala150Thr	0					ETHE1_ENST00000600651.1_Missense_Mutation_p.A150T	p.A150T	NM_014297.3	NP_055112.2	1	2	3	2.010022	O95571	ETHE1_HUMAN		4	514	-		Prostate(69;0.0153)	Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	1	1	hg19	c.448G>A	CCDS12622.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.400492	0.96030	.	.	ENSG00000105755	ENST00000292147	T	0.80824	-1.42	5.04	5.04	0.67666	5.04	5.04	0.67666	Beta-lactamase-like (2);	0.056346	0.64402	D	0.000002	D	0.92476	0.7611	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.992;0.999	P;D	0.72075	0.823;0.976	D	0.93924	0.7208	10	0.62326	D	0.03	-1.0203	16.3468	0.83138	0.0:1.0:0.0:0.0	.	123;150	B2RCZ7;O95571	.;ETHE1_HUMAN	T	150	ENSP00000292147:A150T	ENSP00000292147:A150T	A	-	1	0	0	ETHE1	48707486	48707486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.808000	0.96608	0.549000	0.68633	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014297			34	33		220	217	1		1	1		0	0	55	0		1	1	0	159	0	282	0	34	220
SHC2	25759	broad.mit.edu	37	19	440898	440898	+	Missense_Mutation	SNP	C	C	T	rs531385125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	168	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTCCAGGGAGCGCATAGAGCG	0.637																																						ENST00000264554.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(502-504)cGc>cAc		SHC (Src homology 2 domain containing) transforming protein 2							94.0	115.0	108.0					19																	440898		2137	4243	6380	SO:0001583	missense	25759	2	121072	38				g.chr19:440898C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.503G>A	chr19.hg19:g.440898C>T	ENSP00000264554:p.Arg168His	0						p.R168H	NM_012435.2	NP_036567.2	1	2	3	2.010022	P98077	SHC2_HUMAN		2	502	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	1	1	hg19	c.503G>A	CCDS45891.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166787	0.78339	.	.	ENSG00000129946	ENST00000264554	T	0.22539	1.95	3.2	3.2	0.36748	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.50429	0.1615	M	0.88450	2.955	0.48395	D	0.999646	D	0.89917	1.0	D	0.85130	0.997	T	0.61700	-0.7009	10	0.87932	D	0	-34.3311	12.6692	0.56858	0.0:1.0:0.0:0.0	.	168	P98077	SHC2_HUMAN	H	168	ENSP00000264554:R168H	ENSP00000264554:R168H	R	-	2	0	0	SHC2	391898	391898	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.160000	0.77495	1.742000	0.51746	0.591000	0.81541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000				113	112		476	470	1		1	1		0	0	109	0		1	9.999995e-01	0	20	0	68	0	113	476
CHAF1A	10036	broad.mit.edu	37	19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	228	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)			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)		TGGAGTGAAGCTGGGGGCATC	0.592								Chromatin Structure																														ENST00000301280.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(682-684)gCt>gTt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							93.0	101.0	98.0					19																	4409479		2203	4300	6503	SO:0001583	missense	10036	0	0					g.chr19:4409479C>T	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.683C>T	chr19.hg19:g.4409479C>T	ENSP00000301280:p.Ala228Val	0						p.A228V	NM_005483.2	NP_005474	1	2	3	2.010022	Q13111	CAF1A_HUMAN		3	784	+		Hepatocellular(1079;0.137)	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	1	1	hg19	c.683C>T	CCDS32875.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355976	0.41700	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.57273	0.41	5.78	4.55	0.56014	5.78	4.55	0.56014	.	.	.	.	.	T	0.41789	0.1174	L	0.34521	1.04	0.09310	N	1	P	0.36753	0.568	B	0.36608	0.229	T	0.38001	-0.9681	9	0.87932	D	0	-33.0748	8.718	0.34423	0.0:0.8566:0.0:0.1434	.	228	Q13111	CAF1A_HUMAN	V	228	ENSP00000301280:A228V	ENSP00000301280:A228V	A	+	2	0	0	CHAF1A	4360479	4360479	0.785000	0.28726	0.149000	0.22428	0.362000	0.29581	2.147000	0.42226	2.721000	0.93114	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_005483			51	49		265	258	0		1	1		0	0	76	0		1	9.808400e-01	0	19	0	16	0	51	265
XRCC1	7515	broad.mit.edu	37	19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	266					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562								Other BER factors																														ENST00000262887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(796-798)tCg>tTg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							145.0	148.0	147.0					19																	44056975		2203	4300	6503	SO:0001583	missense	7515	0	0					g.chr19:44056975G>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.797C>T	chr19.hg19:g.44056975G>A	ENSP00000262887:p.Ser266Leu	0					L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L	p.S266L			1	2	3	2.010022	P18887	XRCC1_HUMAN		8	1344	-		Prostate(69;0.0153)	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	1	1	hg19	c.797C>T	CCDS12624.1	1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422592	0.04734	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03124	4.07;4.04	4.35	-3.95	0.04118	4.35	-3.95	0.04118	.	2.105260	0.02044	N	0.049529	T	0.02767	0.0083	N	0.21448	0.665	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.43972	-0.9358	10	0.27082	T	0.32	2.3862	4.5857	0.12280	0.4721:0.0:0.377:0.1509	.	235;266	F5H8D7;P18887	.;XRCC1_HUMAN	L	280;266;235;266	ENSP00000262887:S266L;ENSP00000443671:S235L	ENSP00000262887:S266L	S	-	2	0	0	XRCC1	48748815	48748815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	-0.318000	0.08665	-1.326000	0.01283	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_006297			53	53		226	223	1		1	1		0	0	28	0		1	1	0	27	0	94	0	53	226
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692																																						ENST00000602269.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(754-756)Gct>Act		immunity-related GTPase family, Q							28.0	33.0	31.0					19																	44097296		2201	4298	6499	SO:0001583	missense	126298	0	0					g.chr19:44097296C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.754G>A	chr19.hg19:g.44097296C>T	ENSP00000472250:p.Ala252Thr	0					IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank	p.A252T			1	2	3	2.010022	Q8WZA9	IRGQ_HUMAN		2	939	-		Prostate(69;0.0199)	B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	1	1	hg19	c.754G>A	CCDS33040.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	0	IRGQ	48789136	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001007561			57	56		245	242	1		1	0		0	0	63	0		1	0	0	0	0	1	0	57	245
ZNF576	79177	broad.mit.edu	37	19	44101344	44101344	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000391965.2_Splice_Site_p.I28I|ZNF576_ENST00000528387.1_Splice_Site_p.I28I|IRGQ_ENST00000422989.1_5'Flank|IRGQ_ENST00000602269.1_5'Flank|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|SRRM5_ENST00000526798.1_5'UTR|SRRM5_ENST00000607544.1_5'UTR	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	28					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)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GAGGCAACATCTGTGAGTACA	0.577																																						ENST00000336564.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(82-84)atC>atT		zinc finger protein 576							89.0	81.0	83.0					19																	44101344		2203	4300	6503	SO:0001630	splice_region_variant	79177	0	0					g.chr19:44101344C>T	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.85+1C>T	chr19.hg19:g.44101344C>T		0					IRGQ_ENST00000602269.1_5'Flank|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Splice_Site_p.I28I|SRRM5_ENST00000607544.1_5'UTR|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000528387.1_Splice_Site_p.I28I	p.I28I	NM_001145347.1	NP_001138819.1	1	2	3	2.010022	Q9H609	ZN576_HUMAN		2	238	+		Prostate(69;0.0199)	Q9BU03	Splice_Site	SNP	ENST00000336564.4	1	0	hg19	c.84C>T	CCDS12625.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_024327	Silent		67	65		206	201	1		1	1		0	0	59	0		1	1	0	37	0	69	0	67	206
KCNN4	3783	broad.mit.edu	37	19	44278573	44278573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	152					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262888.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998999	0.990000	1.000000																										0				15						c.(454-456)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)						12.0	13.0	13.0					19																	44278573		2183	4287	6470	SO:0001819	synonymous_variant	3783	0	0					g.chr19:44278573G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.454C>T	chr19.hg19:g.44278573G>A		0		OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922		p.L152L	NM_002250.2	NP_002241.1	1	2	3	2.010022	O15554	KCNN4_HUMAN		3	849	-		Prostate(69;0.0352)	Q53XR4	Silent	SNP	ENST00000262888.3	1	1	hg19	c.454C>T	CCDS12630.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.999900	1	0.170000	NM_002250			13	12		62	60	1		1	1		0	0	16	0		9.996019e-01	9.963844e-01	0	18	0	32	0	13	62
CHAF1A	10036	broad.mit.edu	37	19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A	rs201513692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	547					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)			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)		GAAGGGCGACGGTGTTCCCGA	0.572								Chromatin Structure					G|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					ENST00000301280.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1639-1641)Ggt>Agt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	SER/GLY	0,4406		0,0,2203	106.0	94.0	98.0		1639	1.5	0.0	19		98	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	56	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	547/957	4429469	4,13002	2203	4300	6503	SO:0001583	missense	10036	48	121412	48				g.chr19:4429469G>A	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.1639G>A	chr19.hg19:g.4429469G>A	ENSP00000301280:p.Gly547Ser	0					CTB-50L17.5_ENST00000590159.1_RNA	p.G547S	NM_005483.2	NP_005474	1	2	3	2.010022	Q13111	CAF1A_HUMAN		9	1740	+		Hepatocellular(1079;0.137)	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	1	1	hg19	c.1639G>A	CCDS32875.1	1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038125	0.19669	0.0	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.14144	2.53	5.14	1.49	0.22878	5.14	1.49	0.22878	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.09310	N	0.999996	P	0.41475	0.751	B	0.26094	0.066	T	0.16988	-1.0384	9	0.87932	D	0	-17.0114	8.1559	0.31169	0.2988:0.0:0.7012:0.0	.	547	Q13111	CAF1A_HUMAN	S	547	ENSP00000301280:G547S	ENSP00000301280:G547S	G	+	1	0	0	CHAF1A	4380469	4380469	0.116000	0.22171	0.004000	0.12327	0.000000	0.00434	1.660000	0.37397	0.386000	0.24997	-0.237000	0.12165	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-2.805923	1	0.170000	NM_005483			60	61		325	318	1		1	1		0	0	60	0		1	7.040432e-01	0	3	0	12	0	60	325
CHAF1A	10036	broad.mit.edu	37	19	4432089	4432089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	696	Binds to p60.				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)			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)		ACAGAGACTGCGCAGGCGATG	0.637								Chromatin Structure																														ENST00000301280.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2086-2088)tgC>tgT	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							78.0	68.0	72.0					19																	4432089		2203	4300	6503	SO:0001819	synonymous_variant	10036	1	121412	34				g.chr19:4432089C>T	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.2088C>T	chr19.hg19:g.4432089C>T		0					CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	p.C696C	NM_005483.2	NP_005474	1	2	3	2.010022	Q13111	CAF1A_HUMAN		12	2189	+		Hepatocellular(1079;0.137)	Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	1	1	hg19	c.2088C>T	CCDS32875.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-3.571860	1	0.170000	NM_005483			102	102		384	377	0		1	1		0	0	83	0		1	9.972762e-01	0	8	0	28	0	102	384
CHAF1A	10036	broad.mit.edu	37	19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	708	Binds to p60.				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)			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)		GCAGCAGTTCGCAGCCTGCTT	0.657								Chromatin Structure					G|||	3	0.000599042	0.0	0.0014	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.001					ENST00000301280.5	1.000000	0.750000	1	9.000000e-01	0.990000	0.966738	0.990000	1.000000																										0				27						c.(2122-2124)Gca>Aca	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	46.0	48.0		2122	-9.7	0.0	19	dbSNP_127	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	708/957	4432123	5,13001	2203	4300	6503	SO:0001583	missense	10036	87	121410	50				g.chr19:4432123G>A	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.2122G>A	chr19.hg19:g.4432123G>A	ENSP00000301280:p.Ala708Thr	0					CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	p.A708T	NM_005483.2	NP_005474	1	2	3	2.010022	Q13111	CAF1A_HUMAN		12	2223	+		Hepatocellular(1079;0.137)	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	0	1	hg19	c.2122G>A	CCDS32875.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.829	0.154086	0.09185	2.27E-4	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25250	1.81	4.84	-9.69	0.00524	4.84	-9.69	0.00524	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	1	P	0.41008	0.735	B	0.20184	0.028	T	0.39663	-0.9603	9	0.87932	D	0	-1.689	2.3987	0.04396	0.2251:0.1073:0.4111:0.2565	rs45499793	708	Q13111	CAF1A_HUMAN	T	708	ENSP00000301280:A708T	ENSP00000301280:A708T	A	+	1	0	0	CHAF1A	4383123	4383123	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.241000	0.08940	-2.159000	0.00787	-0.857000	0.03018	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	0		19	5	2	1		1	1	53		53	53	1	2.060000	-9.929854	1	0.170000	NM_005483			29	29		290	289	0		1	1		1	0	53	0		9.487327e-01	3.033814e-01	0	8	0	31	0	29	290
CHAF1A	10036	broad.mit.edu	37	19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T	rs529604161	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	774	Binds to p60.				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)			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)		CGGCAGCCCGCGGAGCCCCTC	0.662								Chromatin Structure																														ENST00000301280.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2320-2322)Cgg>Tgg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							43.0	49.0	47.0					19																	4433183		2203	4300	6503	SO:0001583	missense	10036	3	121362	39				g.chr19:4433183C>T	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.2320C>T	chr19.hg19:g.4433183C>T	ENSP00000301280:p.Arg774Trp	0					CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	p.R774W	NM_005483.2	NP_005474	1	2	3	2.010022	Q13111	CAF1A_HUMAN		13	2421	+		Hepatocellular(1079;0.137)	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	1	1	hg19	c.2320C>T	CCDS32875.1	1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728653	0.15507	.	.	ENSG00000167670	ENST00000301280	T	0.30714	1.52	5.33	1.88	0.25563	5.33	1.88	0.25563	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	B	0.35413	0.202	T	0.08391	-1.0724	8	.	.	.	-4.6503	9.9541	0.41655	0.1352:0.5331:0.3317:0.0	.	774	Q13111	CAF1A_HUMAN	W	774	ENSP00000301280:R774W	.	R	+	1	2	2	CHAF1A	4384183	4384183	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.106000	0.15354	1.223000	0.43536	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.228885	1	0.170000	NM_005483			111	104		404	399	1		1	1		0	0	60	0		1	9.995829e-01	0	14	0	30	0	111	404
KCNN4	3783	broad.mit.edu	37	19	44285001	44285001	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44285001G>A	ENST00000262888.3	-	1	408	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	5					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCAAGCACCAGATCCCCGCCC	0.687																																						ENST00000262888.3	1.000000	0.140000	3.900000e-01	2.000000e-01	0.270000	0.340682	0.270000	0.260000																										0				15						c.(13-15)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)						61.0	61.0	61.0					19																	44285001		2203	4300	6503	SO:0001819	synonymous_variant	3783	0	0					g.chr19:44285001G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.13C>T	chr19.hg19:g.44285001G>A		0						p.L5L	NM_002250.2	NP_002241.1	1	2	3	2.010022	O15554	KCNN4_HUMAN		1	408	-		Prostate(69;0.0352)	Q53XR4	Silent	SNP	ENST00000262888.3	0	1	hg19	c.13C>T	CCDS12630.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	0	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-10.310360	1	0.170000	NM_002250			12	12		527	510	0		1	1		0	0	109	0		9.989445e-01	3.761149e-01	0	6	0	49	0	12	527
ZNF45	7596	broad.mit.edu	37	19	44418337	44418337	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	417					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468																																						ENST00000269973.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1249-1251)caG>caA		zinc finger protein 45							89.0	85.0	86.0					19																	44418337		2203	4300	6503	SO:0001819	synonymous_variant	7596	0	0					g.chr19:44418337C>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1251G>A	chr19.hg19:g.44418337C>T		0					RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	p.Q417Q	NM_003425.3	NP_003416.1	1	2	3	2.010022	Q02386	ZNF45_HUMAN		10	2341	-			P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	1	1	hg19	c.1251G>A	CCDS12632.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_003425			81	78		404	398	1		1	0		0	0	91	0		1	8.684185e-01	0	0	0	20	0	81	404
ZNF221	7638	broad.mit.edu	37	19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	rs140615014	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H|ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AAGAGCTTCCGTGTTAGATCA	0.413													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		23266	0.0		0.0	False		,,,				2504	0.0					ENST00000251269.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(958-960)cGt>cAt		zinc finger protein 221		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	164.0	164.0		959	-1.7	0.0	19	dbSNP_134	164	0,8600		0,0,4300	yes	missense	ZNF221	NM_013359.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	320/618	44470613	1,13005	2203	4300	6503	SO:0001583	missense	7638	16	121412	50				g.chr19:44470613G>A	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.959G>A	chr19.hg19:g.44470613G>A	ENSP00000251269:p.Arg320His	0					ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H|ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H	p.R320H	NM_013359.2	NP_037491	1	2	3	2.010022	Q9UK13	ZN221_HUMAN		6	1287	+		Prostate(69;0.0352)	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	1	1	hg19	c.959G>A	CCDS12633.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	g	11.78	1.740126	0.30865	2.27E-4	0.0	ENSG00000159905	ENST00000251269	T	0.07567	3.18	2.59	-1.74	0.08056	2.59	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.21617	0.685	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.43376	-0.9395	9	0.29301	T	0.29	.	4.6045	0.12371	0.2389:0.3438:0.4173:0.0	.	320	Q9UK13	ZN221_HUMAN	H	320	ENSP00000251269:R320H	ENSP00000251269:R320H	R	+	2	0	0	ZNF221	49162453	49162453	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.269000	0.08596	-0.021000	0.14009	0.462000	0.41574	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	0	0	1		16	2	2	1		1	1	200		200	198	1	2.060000	-20.000000	1	0.170000				166	161		738	726	1		1	0		1	0	200	0		1	2.308554e-01	0	0	0	5	0	166	738
ZNF221	7638	broad.mit.edu	37	19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T|ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	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)			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)				AAGCTATACAAATGTGAGCAG	0.433																																						ENST00000251269.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1603-1605)aAa>aCa		zinc finger protein 221							94.0	88.0	90.0					19																	44471258		2203	4300	6503	SO:0001583	missense	7638	0	0					g.chr19:44471258A>C	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.1604A>C	chr19.hg19:g.44471258A>C	ENSP00000251269:p.Lys535Thr	0					ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T|ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T	p.K535T	NM_013359.2	NP_037491	1	2	3	2.010022	Q9UK13	ZN221_HUMAN		6	1932	+		Prostate(69;0.0352)	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	1	1	hg19	c.1604A>C	CCDS12633.1	1	.	.	.	.	.	.	.	.	.	.	a	14.11	2.437523	0.43224	.	.	ENSG00000159905	ENST00000251269	T	0.08458	3.09	2.9	2.9	0.33743	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.49699	1.58	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.04065	-1.0980	9	0.54805	T	0.06	.	7.2124	0.25941	0.7731:0.2269:0.0:0.0	.	535	Q9UK13	ZN221_HUMAN	T	535	ENSP00000251269:K535T	ENSP00000251269:K535T	K	+	2	0	0	ZNF221	49163098	49163098	0.000000	0.05858	0.009000	0.14445	0.233000	0.25261	-0.227000	0.09126	1.319000	0.45190	0.379000	0.24179	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000				95	93		399	393	1		1	0		0	0	115	0		1	4.050079e-01	0	1	0	6	0	95	399
ZNF155	7711	broad.mit.edu	37	19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000270014.2	+	5	1570	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1441-1443)aAa>aCa		zinc finger protein 155							89.0	95.0	93.0					19																	44501451		2203	4300	6503	SO:0001583	missense	7711	0	0					g.chr19:44501451A>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1442A>C	chr19.hg19:g.44501451A>C	ENSP00000270014:p.Lys481Thr	0					ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000589021.1_RNA	p.K481T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	1	2	3	2.010022	Q12901	ZN155_HUMAN		5	1570	+		Prostate(69;0.0352)	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	1	1	hg19	c.1442A>C	CCDS12634.1	1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554531	0.45487	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.11277	2.79;2.79	2.83	2.83	0.33086	2.83	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.25380	0.74	0.09310	N	1	P;P	0.42296	0.775;0.605	P;P	0.51297	0.665;0.665	T	0.12811	-1.0533	9	0.87932	D	0	.	10.1978	0.43065	1.0:0.0:0.0:0.0	.	492;481	B4DM95;Q12901	.;ZN155_HUMAN	T	492;481	ENSP00000385163:K492T;ENSP00000270014:K481T	ENSP00000270014:K481T	K	+	2	0	0	ZNF155	49193291	49193291	0.988000	0.35896	0.005000	0.12908	0.083000	0.17756	3.462000	0.53042	1.279000	0.44446	0.459000	0.35465	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_003445			143	139		605	584	1		1	0		0	0	147	0		1	8.107367e-01	0	0	0	15	0	143	605
ZNF230	7773	broad.mit.edu	37	19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	125	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(373-375)caG>caT		zinc finger protein 230							102.0	96.0	98.0					19																	44514566		2203	4300	6503	SO:0001583	missense	7773	0	0					g.chr19:44514566G>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.375G>T	chr19.hg19:g.44514566G>T	ENSP00000409318:p.Gln125His	0						p.Q125H	NM_006300.3	NP_006291.2	1	2	3	2.010022	Q9UIE0	ZN230_HUMAN		5	603	+		Prostate(69;0.0352)	O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	1	1	hg19	c.375G>T	CCDS33044.1	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465658	0.26335	.	.	ENSG00000159882	ENST00000429154	T	0.05580	3.42	2.36	1.11	0.20524	2.36	1.11	0.20524	.	.	.	.	.	T	0.03871	0.0109	N	0.17345	0.48	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39901	-0.9591	9	0.36615	T	0.2	.	5.4808	0.16723	0.0:0.0:0.6706:0.3294	.	125	Q9UIE0	ZN230_HUMAN	H	125	ENSP00000409318:Q125H	ENSP00000409318:Q125H	Q	+	3	2	2	ZNF230	49206406	49206406	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.729000	0.04920	1.299000	0.44798	0.205000	0.17691	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-3.356824	1	0.170000				68	66		328	323	1		1	1		0	0	108	0		1	7.872280e-01	0	7	0	9	0	68	328
UBXN6	80700	broad.mit.edu	37	19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	34						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTTGGGCTTCTCTTTGTGGG	0.647																																						ENST00000301281.6	1.000000	0.240000	4.500000e-01	2.900000e-01	0.360000	0.414295	0.360000	0.350000																										0				12						c.(100-102)gaG>gaT		UBX domain protein 6							104.0	120.0	114.0					19																	4454072		2203	4300	6503	SO:0001583	missense	80700	0	0					g.chr19:4454072C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.102G>T	chr19.hg19:g.4454072C>A	ENSP00000301281:p.Glu34Asp	0					UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	p.E34D	NM_025241.2	NP_079517.1	1	2	3	2.010022	Q9BZV1	UBXN6_HUMAN		2	226	-			D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	1	1	hg19	c.102G>T	CCDS12129.1	0	.	.	.	.	.	.	.	.	.	.	C	6.605	0.479950	0.12581	.	.	ENSG00000167671	ENST00000301281	T	0.42513	0.97	4.13	-8.12	0.01078	4.13	-8.12	0.01078	.	1.423740	0.04598	N	0.397999	T	0.23649	0.0572	L	0.31294	0.92	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.13470	T	0.59	-2.1917	7.2936	0.26380	0.0:0.4968:0.3083:0.1948	.	34	Q9BZV1	UBXN6_HUMAN	D	34	ENSP00000301281:E34D	ENSP00000301281:E34D	E	-	3	2	2	UBXN6	4405072	4405072	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-1.062000	0.03468	-1.133000	0.02903	0.484000	0.47621	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	0	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-2.684771	1	0.170000	NM_025241			31	29		1009	995	0		1	1		0	0	134	0		1	9.431191e-01	0	10	0	146	0	31	1009
UBXN6	80700	broad.mit.edu	37	19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	UBXN6_ENST00000394765.3_5'Flank|CTB-50L17.9_ENST00000592034.1_RNA|CTB-50L17.16_ENST00000591414.1_lincRNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692																																						ENST00000301281.6	1.000000	0.740000	1	9.700000e-01	0.990000	0.976479	0.990000	1.000000																										0				12						c.(61-63)cAg>cGg		UBX domain protein 6							35.0	31.0	33.0					19																	4457633		2201	4297	6498	SO:0001583	missense	80700	0	0					g.chr19:4457633T>C	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.62A>G	chr19.hg19:g.4457633T>C	ENSP00000301281:p.Gln21Arg	0					UBXN6_ENST00000394765.3_5'Flank|CTB-50L17.9_ENST00000592034.1_RNA|CTB-50L17.16_ENST00000591414.1_lincRNA	p.Q21R	NM_025241.2	NP_079517.1	1	2	3	2.010022	Q9BZV1	UBXN6_HUMAN		1	186	-			D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	0	1	hg19	c.62A>G	CCDS12129.1	1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811888	0.16537	.	.	ENSG00000167671	ENST00000301281	T	0.42900	0.96	4.03	4.03	0.46877	4.03	4.03	0.46877	.	0.410430	0.26612	U	0.023407	T	0.26159	0.0638	L	0.33137	0.985	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.04333	-1.0959	10	0.07482	T	0.82	-14.4097	7.6137	0.28145	0.1898:0.0:0.0:0.8102	.	21	Q9BZV1	UBXN6_HUMAN	R	21	ENSP00000301281:Q21R	ENSP00000301281:Q21R	Q	-	2	0	0	UBXN6	4408633	4408633	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	5.039000	0.64185	1.448000	0.47680	0.477000	0.44152	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-19.997960	1	0.170000	NM_025241			15	15		129	125	0		1	1		0	0	18	0		9.998777e-01	9.995217e-01	0	23	0	93	0	15	129
ZNF230	7773	broad.mit.edu	37	19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1204-1206)aGc>aAc		zinc finger protein 230							82.0	86.0	84.0					19																	44515396		2203	4300	6503	SO:0001583	missense	7773	0	0					g.chr19:44515396G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1205G>A	chr19.hg19:g.44515396G>A	ENSP00000409318:p.Ser402Asn	0						p.S402N	NM_006300.3	NP_006291.2	1	2	3	2.010022	Q9UIE0	ZN230_HUMAN		5	1433	+		Prostate(69;0.0352)	O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	1	1	hg19	c.1205G>A	CCDS33044.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217466	0.39201	.	.	ENSG00000159882	ENST00000429154	T	0.07567	3.18	2.33	2.33	0.28932	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.17474	0.49	0.21499	N	0.999666	B	0.28584	0.216	B	0.28784	0.094	T	0.42849	-0.9427	9	0.20046	T	0.44	.	4.8412	0.13491	0.0:0.236:0.5236:0.2404	.	402	Q9UIE0	ZN230_HUMAN	N	402	ENSP00000409318:S402N	ENSP00000409318:S402N	S	+	2	0	0	ZNF230	49207236	49207236	0.000000	0.05858	0.539000	0.28077	0.880000	0.50808	0.098000	0.15189	1.280000	0.44463	0.205000	0.17691	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000				118	115		556	549	1		1	1		0	0	125	0		1	7.964624e-01	0	6	0	10	0	118	556
ZNF224	7767	broad.mit.edu	37	19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)				GAAGCTGTATCGAGATGTGAT	0.537																																						ENST00000336976.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(100-102)Cga>Tga		zinc finger protein 224							213.0	193.0	200.0					19																	44605038		2203	4300	6503	SO:0001587	stop_gained	7767	0	0					g.chr19:44605038C>T	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.100C>T	chr19.hg19:g.44605038C>T	ENSP00000337368:p.Arg34*	0					AC084219.3_ENST00000591772.1_RNA	p.R34*	NM_013398.2	NP_037530.2	1	2	3	2.010022	Q9NZL3	ZN224_HUMAN		4	354	+		Prostate(69;0.0435)	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	0	1	hg19	c.100C>T	CCDS33046.1	1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.127151	0.56721	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	2.75	1.54	0.23209	2.75	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4372	0.32795	0.2317:0.7683:0.0:0.0	.	.	.	.	X	34	.	ENSP00000269981:R34X	R	+	1	2	2	ZNF224	49296878	49296878	0.001000	0.12720	0.107000	0.21349	0.011000	0.07611	-0.383000	0.07398	1.521000	0.48983	0.585000	0.79938	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	1	0	1		2	2	2	0		0	0	211		211	210	1	2.060000	-3.521076	1	0.170000	NM_013398			185	183		762	743	1		1	1		0	0	211	0		1	9.892543e-01	0	5	0	26	0	185	762
ZNF224	7767	broad.mit.edu	37	19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	597					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)			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)				AAGCCATACAAATGTGATGAG	0.463																																						ENST00000336976.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1789-1791)aAa>aCa		zinc finger protein 224							86.0	88.0	87.0					19																	44612103		2203	4300	6503	SO:0001583	missense	7767	1	121412	31				g.chr19:44612103A>C	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.1790A>C	chr19.hg19:g.44612103A>C	ENSP00000337368:p.Lys597Thr	0					AC084219.4_ENST00000592946.1_RNA	p.K597T	NM_013398.2	NP_037530.2	1	2	3	2.010022	Q9NZL3	ZN224_HUMAN		6	2044	+		Prostate(69;0.0435)	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	1	1	hg19	c.1790A>C	CCDS33046.1	1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.180398	0.38511	.	.	ENSG00000186019	ENST00000336976	T	0.18810	2.19	2.93	0.748	0.18376	2.93	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.52266	1.64	0.09310	N	1	P	0.38729	0.644	B	0.30572	0.117	T	0.16689	-1.0394	9	0.41790	T	0.15	.	3.5138	0.07717	0.5603:0.1998:0.2399:0.0	.	597	Q9NZL3	ZN224_HUMAN	T	597	ENSP00000337368:K597T	ENSP00000337368:K597T	K	+	2	0	0	ZNF224	49303943	49303943	0.000000	0.05858	0.004000	0.12327	0.696000	0.40369	-2.518000	0.00953	-0.024000	0.13941	0.482000	0.46254	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_013398			99	99		360	345	1		1	1		0	0	87	0		1	9.800346e-01	0	7	0	18	0	99	360
ZNF225	7768	broad.mit.edu	37	19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000262894.6	+	4	473	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V|ZNF225_ENST00000592780.1_Missense_Mutation_p.F65V	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	65	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)			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)				GGAAGAAAAGTTTTGGATGAT	0.428																																						ENST00000262894.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(193-195)Ttt>Gtt		zinc finger protein 225							79.0	76.0	77.0					19																	44622685		2203	4300	6503	SO:0001583	missense	7768	0	0					g.chr19:44622685T>G	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.193T>G	chr19.hg19:g.44622685T>G	ENSP00000262894:p.Phe65Val	0					ZNF225_ENST00000592780.1_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	p.F65V	NM_013362.2	NP_037494.2	1	2	3	2.010022	Q9UK10	ZN225_HUMAN		4	473	+		Prostate(69;0.0352)|all_neural(266;0.202)	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	1	1	hg19	c.193T>G	CCDS46100.1	1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553791	0.03996	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.06068	3.35	1.93	-0.787	0.10943	1.93	-0.787	0.10943	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.03268	-0.37	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.48514	-0.9029	9	0.16420	T	0.52	.	4.2847	0.10850	0.0:0.4979:0.0:0.5021	.	65	Q9UK10	ZN225_HUMAN	V	65;29	ENSP00000262894:F65V	ENSP00000262894:F65V	F	+	1	0	0	ZNF225	49314525	49314525	0.540000	0.26410	0.001000	0.08648	0.007000	0.05969	0.479000	0.22228	-0.130000	0.11599	0.454000	0.30748	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				42	41		211	208	1		1	1		0	0	57	0		1	3.356423e-01	0	2	0	5	0	42	211
ZNF225	7768	broad.mit.edu	37	19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	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)			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)				TCTCACCAGAGAGCGCACAGT	0.453																																						ENST00000262894.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1258-1260)aGa>aTa		zinc finger protein 225							100.0	105.0	103.0					19																	44636026		2197	4297	6494	SO:0001583	missense	7768	0	0					g.chr19:44636026G>T	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.1259G>T	chr19.hg19:g.44636026G>T	ENSP00000262894:p.Arg420Ile	0					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I	p.R420I	NM_013362.2	NP_037494.2	1	2	3	2.010022	Q9UK10	ZN225_HUMAN		5	1539	+		Prostate(69;0.0352)|all_neural(266;0.202)	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	1	1	hg19	c.1259G>T	CCDS46100.1	1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619663	0.46736	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.65	-5.3	0.02738	2.65	-5.3	0.02738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.44673	0.457	T	0.07849	-1.0751	9	0.59425	D	0.04	.	4.1269	0.10131	0.2968:0.0:0.3695:0.3337	.	420	Q9UK10	ZN225_HUMAN	I	420;384	ENSP00000262894:R420I	ENSP00000262894:R420I	R	+	2	0	0	ZNF225	49327866	49327866	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.654000	0.01984	-1.272000	0.02427	-0.314000	0.08810	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-20.000000	1	0.170000				115	113		448	437	1		1	0		0	0	138	0		1	2.739515e-01	0	1	0	4	0	115	448
ZNF225	7768	broad.mit.edu	37	19	44636174	44636174	+	Silent	SNP	G	G	A	rs145291466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000590612.1_Silent_p.S469S|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	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)			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)				GCTGGGCCTCGTGTCTTTTGA	0.413													A|||	3	0.000599042	0.0023	0.0	5008	,	,		19960	0.0		0.0	False		,,,				2504	0.0					ENST00000262894.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1405-1407)tcG>tcA		zinc finger protein 225		A		15,4387	800.4+/-415.6	0,15,2186	67.0	72.0	71.0		1407	-3.4	0.0	19	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	ZNF225	NM_013362.2		0,15,6485	AA,AG,GG		0.0,0.3408,0.1154		469/707	44636174	15,12985	2201	4299	6500	SO:0001819	synonymous_variant	7768	35	121402	48				g.chr19:44636174G>A	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.1407G>A	chr19.hg19:g.44636174G>A		0					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S469S	p.S469S	NM_013362.2	NP_037494.2	1	2	3	2.010022	Q9UK10	ZN225_HUMAN		5	1687	+		Prostate(69;0.0352)|all_neural(266;0.202)	A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	1	1	hg19	c.1407G>A	CCDS46100.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.255798	1	0.170000				99	93		384	377	1		1	0		0	0	83	0		1	5.790569e-01	0	0	0	9	0	99	384
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K650T(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)				AGTAGAGAAAAACTACTTCAA	0.438																																						ENST00000262894.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										1	Substitution - Missense(1)	p.K650T(1)	large_intestine(1)	16						c.(1948-1950)aAa>aCa		zinc finger protein 225							56.0	56.0	56.0					19																	44636716		2162	4281	6443	SO:0001583	missense	7768	0	0					g.chr19:44636716A>C	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.1949A>C	chr19.hg19:g.44636716A>C	ENSP00000262894:p.Lys650Thr	0					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	p.K650T	NM_013362.2	NP_037494.2	1	2	3	2.010022	Q9UK10	ZN225_HUMAN		5	2229	+		Prostate(69;0.0352)|all_neural(266;0.202)	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	1	1	hg19	c.1949A>C	CCDS46100.1	1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	0	ZNF225	49328556	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				31	30		176	176	1		1	0		0	0	46	0		1	3.521074e-01	0	0	0	8	0	31	176
ZNF234	10780	broad.mit.edu	37	19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	110	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448																																						ENST00000426739.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(328-330)Gat>Tat		zinc finger protein 234							75.0	77.0	77.0					19																	44660497		1966	4185	6151	SO:0001583	missense	10780	0	0					g.chr19:44660497G>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.328G>T	chr19.hg19:g.44660497G>T	ENSP00000400878:p.Asp110Tyr	0					ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006630.2	NP_006621.1	1	2	3	2.010022	Q14588	ZN234_HUMAN		6	586	+		Prostate(69;0.0435)	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	1	1	hg19	c.328G>T	CCDS46101.1	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375262	0.42105	.	.	ENSG00000167380	ENST00000426739	T	0.05996	3.36	3.34	2.28	0.28536	3.34	2.28	0.28536	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.27331	-1.0077	9	0.42905	T	0.14	.	4.1781	0.10362	0.121:0.0:0.648:0.2311	.	110	Q14588	ZN234_HUMAN	Y	110	ENSP00000400878:D110Y	ENSP00000400878:D110Y	D	+	1	0	0	ZNF226	49352337	49352337	0.099000	0.21834	0.017000	0.16124	0.292000	0.27327	0.985000	0.29578	0.960000	0.38005	0.591000	0.81541	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000				83	82		308	302	1		1	0		0	0	92	0		1	6.609868e-01	0	1	0	9	0	83	308
ZNF234	10780	broad.mit.edu	37	19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAACATCAGAGAATTCATACT	0.418																																						ENST00000426739.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(838-840)aGa>aTa		zinc finger protein 234							127.0	135.0	132.0					19																	44661008		2197	4299	6496	SO:0001583	missense	10780	1	121378	38				g.chr19:44661008G>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.839G>T	chr19.hg19:g.44661008G>T	ENSP00000400878:p.Arg280Ile	0					ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	p.R280I	NM_006630.2	NP_006621.1	1	2	3	2.010022	Q14588	ZN234_HUMAN		6	1097	+		Prostate(69;0.0435)	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	1	1	hg19	c.839G>T	CCDS46101.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867374	0.51588	.	.	ENSG00000167380	ENST00000426739	T	0.24908	1.83	3.98	-1.14	0.09741	3.98	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	L	0.48986	1.54	0.25986	N	0.982302	D	0.57899	0.981	P	0.54140	0.743	T	0.18241	-1.0343	9	0.42905	T	0.14	.	5.4562	0.16592	0.3579:0.1405:0.5016:0.0	.	280	Q14588	ZN234_HUMAN	I	280	ENSP00000400878:R280I	ENSP00000400878:R280I	R	+	2	0	0	ZNF226	49352848	49352848	0.000000	0.05858	0.260000	0.24451	0.991000	0.79684	-1.281000	0.02802	0.114000	0.18032	0.586000	0.80456	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	1	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-20.000000	1	0.170000				154	152		613	603	1		1	1		0	0	170	0		1	7.265880e-01	0	4	0	8	0	154	613
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1222-1224)tCc>tTc		zinc finger protein 226							64.0	68.0	67.0					19																	44680638		2198	4299	6497	SO:0001583	missense	7769	0	0					g.chr19:44680638C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1223C>T	chr19.hg19:g.44680638C>T	ENSP00000465121:p.Ser408Phe	0					ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F	p.S408F			1	2	3	2.010022	Q9NYT6	ZN226_HUMAN		7	1590	+		Prostate(69;0.0352)|all_neural(266;0.202)	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	1	1	hg19	c.1223C>T	CCDS46102.1	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122901	0.37436	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08008	3.14;3.14	3.92	2.79	0.32731	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.21509	0.0518	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02184	-1.1199	10	0.54805	T	0.06	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	F	408	ENSP00000336719:S408F;ENSP00000393265:S408F	ENSP00000336719:S408F	S	+	2	0	0	ZNF226	49372478	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-20.000000	1	0.170000				64	64		262	260	1		1	1		0	0	66	0		1	7.914482e-01	0	5	0	9	0	64	262
ZNF227	7770	broad.mit.edu	37	19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393																																						ENST00000313040.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				24						c.(2392-2394)aAg>aCg		zinc finger protein 227							34.0	32.0	33.0					19																	44740976		2203	4294	6497	SO:0001583	missense	7770	0	0					g.chr19:44740976A>C	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.2393A>C	chr19.hg19:g.44740976A>C	ENSP00000321049:p.Lys798Thr	0					ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T	p.K798T	NM_182490.1	NP_872296.1	1	2	3	2.010022	Q86WZ6	ZN227_HUMAN		6	2598	+		Prostate(69;0.0435)	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	1	1	hg19	c.2393A>C	CCDS12636.1	1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723345	0.48728	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.09538	3.11;2.97	4.03	1.91	0.25777	4.03	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.85630	2.765	0.80722	D	1	B;B;B;B	0.27910	0.084;0.042;0.193;0.084	B;B;B;B	0.32864	0.154;0.07;0.133;0.154	T	0.03095	-1.1073	9	0.87932	D	0	.	8.1488	0.31128	0.8131:0.0:0.1869:0.0	.	719;777;750;798	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	T	798;755;747;777;437	ENSP00000321049:K798T;ENSP00000375823:K747T	ENSP00000321049:K798T	K	+	2	0	0	ZNF227	49432816	49432816	0.199000	0.23386	0.214000	0.23707	0.427000	0.31564	1.410000	0.34691	0.683000	0.31428	0.379000	0.24179	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_182490			33	33		164	162	1		1	1		0	0	36	0		1	9.774627e-01	0	3	0	30	0	33	164
ZNF233	353355	broad.mit.edu	37	19	44778193	44778193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000391958.2	+	5	1507	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	460					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)|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)				GTGATAAGGGCTTCAGTAAGG	0.418																																						ENST00000391958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1378-1380)ggC>ggT		zinc finger protein 233							62.0	72.0	69.0					19																	44778193		2190	4300	6490	SO:0001819	synonymous_variant	353355	0	0					g.chr19:44778193C>T	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.1380C>T	chr19.hg19:g.44778193C>T		0					ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.G442G	p.G460G	NM_181756.2	NP_861421.2	1	2	3	2.010022	A6NK53	ZN233_HUMAN		5	1507	+		Prostate(69;0.0435)|all_neural(266;0.226)	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	1	1	hg19	c.1380C>T	CCDS33047.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_181756			82	81		346	337	1		1	0		0	0	89	0		1	0	0	0	0	1	0	82	346
ZNF235	9310	broad.mit.edu	37	19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443																																						ENST00000291182.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1663-1665)aGc>aTc		zinc finger protein 235							88.0	83.0	84.0					19																	44791924		2203	4300	6503	SO:0001583	missense	9310	0	0					g.chr19:44791924C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1664G>T	chr19.hg19:g.44791924C>A	ENSP00000291182:p.Ser555Ile	0					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.S555I	NM_004234.4	NP_004225.3	1	2	3	2.010022	Q14590	ZN235_HUMAN		5	1766	-		Prostate(69;0.0352)|all_neural(266;0.116)	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	1	1	hg19	c.1664G>T	CCDS33048.1	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339720	0.41398	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.37058	1.22	5.04	2.76	0.32466	5.04	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.76170	2.325	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.916	T	0.39354	-0.9618	10	0.51188	T	0.08	.	1.762	0.02994	0.1678:0.4886:0.1625:0.1811	.	551;555	Q14590-2;Q14590	.;ZN235_HUMAN	I	555;555;447	ENSP00000291182:S555I	ENSP00000291182:S555I	S	-	2	0	0	ZNF235	49483764	49483764	0.000000	0.05858	0.994000	0.49952	0.919000	0.55068	0.015000	0.13355	1.253000	0.44018	0.462000	0.41574	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				83	82		340	334	1		1	0		0	0	73	0		1	1.779214e-01	0	1	0	3	0	83	340
ZNF235	9310	broad.mit.edu	37	19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGTGTGAATTCTTTCATGGGC	0.423																																						ENST00000291182.4	1.000000	0.240000	5.700000e-01	3.200000e-01	0.420000	0.474738	0.420000	0.400000																										0				29						c.(1267-1269)aGa>aTa		zinc finger protein 235							88.0	86.0	87.0					19																	44792320		2203	4300	6503	SO:0001583	missense	9310	0	0					g.chr19:44792320C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1268G>T	chr19.hg19:g.44792320C>A	ENSP00000291182:p.Arg423Ile	0					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.R423I	NM_004234.4	NP_004225.3	1	2	3	2.010022	Q14590	ZN235_HUMAN		5	1370	-		Prostate(69;0.0352)|all_neural(266;0.116)	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	1	1	hg19	c.1268G>T	CCDS33048.1	0	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940732	0.52972	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.24908	1.83	4.08	4.08	0.47627	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000853	T	0.46014	0.1371	M	0.64170	1.965	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40553	-0.9557	10	0.52906	T	0.07	.	12.5135	0.56019	0.0:0.8298:0.1702:0.0	.	419;423	Q14590-2;Q14590	.;ZN235_HUMAN	I	423;423;345	ENSP00000291182:R423I	ENSP00000291182:R423I	R	-	2	0	0	ZNF235	49484160	49484160	0.000000	0.05858	0.967000	0.41034	0.920000	0.55202	-0.039000	0.12124	2.233000	0.73108	0.462000	0.41574	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-15.003420	1	0.170000				16	16		448	434	0		1	0		0	0	92	0		9.999173e-01	7.097824e-02	0	0	0	12	0	16	448
ZNF229	7772	broad.mit.edu	37	19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000588931.1	-	6	2411	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZNF229_ENST00000291187.4_Nonsense_Mutation_p.E654*|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498																																						ENST00000588931.1	1.000000	0.450000	8.000000e-01	5.400000e-01	0.650000	0.678869	0.650000	0.630000																										0				45						c.(1978-1980)Gag>Tag		zinc finger protein 229							122.0	123.0	123.0					19																	44932978		2156	4278	6434	SO:0001587	stop_gained	7772	0	0					g.chr19:44932978C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1978G>T	chr19.hg19:g.44932978C>A	ENSP00000466519:p.Glu660*	0					CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Nonsense_Mutation_p.E654*	p.E660*	NM_014518.2	NP_055333.2	1	2	3	2.010022	Q9UJW7	ZN229_HUMAN		6	2411	-		Prostate(69;0.0352)	B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP	ENST00000588931.1	0	1	hg19	c.1978G>T	CCDS42574.1	0	.	.	.	.	.	.	.	.	.	.	C	38	7.183847	0.98121	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.111	0.13576	3.5	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.46981	D	0.999279	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.1241	0.14875	0.165:0.6371:0.0:0.1979	.	.	.	.	X	660	.	ENSP00000291187:E660X	E	-	1	0	0	ZNF229	49624818	49624818	0.000000	0.05858	0.013000	0.15412	0.053000	0.15095	0.147000	0.16202	0.108000	0.17862	-0.208000	0.12717	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-5.832220	1	0.170000	NM_014518			36	36		632	621	0		1	0		0	0	136	0		1	0	0	0	0	1	0	36	632
ZNF229	7772	broad.mit.edu	37	19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000588931.1	-	6	1185	c.752A>C	c.(751-753)aAa>aCa	p.K251T	ZNF229_ENST00000291187.4_Missense_Mutation_p.K245T|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433																																						ENST00000588931.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(751-753)aAa>aCa		zinc finger protein 229							121.0	111.0	114.0					19																	44934204		1888	4109	5997	SO:0001583	missense	7772	0	0					g.chr19:44934204T>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.752A>C	chr19.hg19:g.44934204T>G	ENSP00000466519:p.Lys251Thr	0					CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.K245T	p.K251T	NM_014518.2	NP_055333.2	1	2	3	2.010022	Q9UJW7	ZN229_HUMAN		6	1185	-		Prostate(69;0.0352)	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	1	1	hg19	c.752A>C	CCDS42574.1	1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820100	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	1.24	0.21308	3.92	1.24	0.21308	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24048	-1.0171	8	0.27082	T	0.32	.	6.3199	0.21213	0.0:0.1102:0.1737:0.716	.	251	Q9UJW7	ZN229_HUMAN	T	251	.	ENSP00000291187:K251T	K	-	2	0	0	ZNF229	49626044	49626044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.197000	0.09518	0.386000	0.24997	0.496000	0.49642	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_014518			103	100		381	374	1		1	0		0	0	88	0		1	1.179258e-01	0	0	0	3	0	103	381
ZNF180	7733	broad.mit.edu	37	19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000586637.1_Silent_p.C125C|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000587047.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	116	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)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(346-348)gCa>gTa		zinc finger protein 180							43.0	45.0	44.0					19																	44982351		2201	4298	6499	SO:0001583	missense	7733	0	0					g.chr19:44982351G>A	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.347C>T	chr19.hg19:g.44982351G>A	ENSP00000221327:p.Ala116Val	0					AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000586637.1_Silent_p.C125C	p.A116V	NM_013256.3	NP_037388.2	1	2	3	2.010022	Q9UJW8	ZN180_HUMAN		5	628	-		Prostate(69;0.0435)	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	1	1	hg19	c.347C>T	CCDS12639.1	1	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937103	0.02340	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00776	5.71;5.71	5.16	-1.2	0.09554	5.16	-1.2	0.09554	Krueppel-associated box (3);	0.363501	0.20122	N	0.098791	T	0.00468	0.0015	N	0.16266	0.395	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.47446	-0.9117	10	0.25106	T	0.35	-1.1964	1.0527	0.01583	0.2778:0.154:0.4105:0.1578	.	91;115;116	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	V	116;91	ENSP00000221327:A116V;ENSP00000375818:A91V	ENSP00000221327:A116V	A	-	2	0	0	ZNF180	49674191	49674191	0.001000	0.12720	0.017000	0.16124	0.043000	0.13939	0.420000	0.21263	0.037000	0.15575	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-19.999990	1	0.170000	NM_013256			44	44		202	200	1		1	0		0	0	53	0		1	3.712287e-01	0	1	0	6	0	44	202
PLIN4	729359	broad.mit.edu	37	19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A	rs371086662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1116						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTCCCTGCCTGGGGCGGCC	0.657																																						ENST00000301286.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				41						c.(3346-3348)Ggc>Tgc		perilipin 4							31.0	36.0	34.0					19																	4510584		2133	4232	6365	SO:0001583	missense	729359	0	0					g.chr19:4510584C>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3346G>T	chr19.hg19:g.4510584C>A	ENSP00000301286:p.Gly1116Cys	0						p.G1116C	NM_001080400.1	NP_001073869.1	1	2	3	2.010022	Q96Q06	PLIN4_HUMAN		3	3345	-			A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	1	1	hg19	c.3346G>T	CCDS45927.1	1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817730	0.32145	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	3.85	-0.00379	0.14024	3.85	-0.00379	0.14024	.	1.488490	0.04874	N	0.446490	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.4226	5.6695	0.17715	0.4127:0.401:0.1863:0.0	.	1116	Q96Q06	PLIN4_HUMAN	C	1116	ENSP00000301286:G1116C	ENSP00000301286:G1116C	G	-	1	0	0	PLIN4	4461584	4461584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.117000	0.18138	-0.295000	0.09555	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	XM_170901			22	22		92	89	1		1			0	0	21	0		9.999993e-01	0	0	0	0	0	0	22	92
PLIN4	729359	broad.mit.edu	37	19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1069						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCTTGGGGGCTCAGGGCAGT	0.642																																						ENST00000301286.3	1.000000	0.430000	1	5.800000e-01	0.780000	0.782422	0.780000	1.000000																										0				41						c.(3205-3207)aGc>aTc		perilipin 4							30.0	36.0	34.0					19																	4510724		2069	4199	6268	SO:0001583	missense	729359	0	0					g.chr19:4510724C>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3206G>T	chr19.hg19:g.4510724C>A	ENSP00000301286:p.Ser1069Ile	0						p.S1069I	NM_001080400.1	NP_001073869.1	1	2	3	2.010022	Q96Q06	PLIN4_HUMAN		3	3205	-			A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	0	1	hg19	c.3206G>T	CCDS45927.1	0	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242739	0.22796	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	2.87	-5.75	0.02384	2.87	-5.75	0.02384	.	3.138250	0.01171	U	0.006873	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.35656	0.514	B	0.31016	0.123	T	0.33214	-0.9877	10	0.40728	T	0.16	-0.9643	1.0287	0.01533	0.145:0.1954:0.3066:0.353	.	1069	Q96Q06	PLIN4_HUMAN	I	1069	ENSP00000301286:S1069I	ENSP00000301286:S1069I	S	-	2	0	0	PLIN4	4461724	4461724	.	.	0.000000	0.03702	0.108000	0.19459	.	.	-1.121000	0.02949	0.424000	0.28305	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-16.807430	1	0.170000	XM_170901			13	13		193	188	0		1	0		0	0	24	0		9.995127e-01	0	0	1	0	0	0	13	193
CEACAM20	125931	broad.mit.edu	37	19	45024580	45024580	+	RNA	SNP	C	C	T	rs372834997		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	ENST00000454753.1	-	0	1236							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)				GCATAGGGCCCCGTGTCATTC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.001					ENST00000454753.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15								carcinoembryonic antigen-related cell adhesion molecule 20			ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3894		0,0,1947	56.0	55.0	55.0		958,958,958,958	4.5	0.3	19		55	2,8286		0,2,4142	no	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	125,125,125,125	0,2,6089	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	320/597,320/492,320/504,320/585	45024580	2,12180	1947	4144	6091			125931	3	120916	38				g.chr19:45024580C>T	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		chr19.hg19:g.45024580C>T		0									1	2	3	2.010022	Q6UY09	CEA20_HUMAN		0	1236	-		Prostate(69;0.0352)		RNA	SNP	ENST00000454753.1	1	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	0	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-4.856148	1	0.170000	NM_198444			53	52		138	136	0		1	1		0	0	35	0		1	1	0	37	0	60	0	53	138
PVR	5817	broad.mit.edu	37	19	45150592	45150592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	PVR_ENST00000344956.4_Silent_p.T59T|PVR_ENST00000406449.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	59	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	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)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGAGGTGACGCATGTGTCAC	0.647																																						ENST00000425690.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999738	0.990000	1.000000																										0				6						c.(175-177)acG>acA		poliovirus receptor							34.0	28.0	30.0					19																	45150592		2203	4299	6502	SO:0001819	synonymous_variant	5817	3	121390	33				g.chr19:45150592G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.177G>A	chr19.hg19:g.45150592G>A		0					PVR_ENST00000344956.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.T59T	p.T59T	NM_006505.3	NP_006496.3	1	2	3	2.010022	P15151	PVR_HUMAN		2	476	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	1	1	hg19	c.177G>A	CCDS12640.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-12.415560	1	0.170000	NM_006505			17	16		80	79	1		1	1		0	0	14	0		9.999767e-01	9.898944e-01	0	11	0	28	0	17	80
CEACAM16	388551	broad.mit.edu	37	19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000405314.2	+	4	904	c.807G>T	c.(805-807)caG>caT	p.Q269H	CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	269	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCAACGGGCAGGCCCTAAAGA	0.572																																						ENST00000405314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(805-807)caG>caT		carcinoembryonic antigen-related cell adhesion molecule 16							95.0	106.0	102.0					19																	45209005		2131	4240	6371	SO:0001583	missense	388551	0	0					g.chr19:45209005G>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.807G>T	chr19.hg19:g.45209005G>T	ENSP00000385576:p.Gln269His	0					CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H|CTB-171A8.1_ENST00000590796.1_RNA	p.Q269H			1	2	3	2.010022	Q2WEN9	CEA16_HUMAN		4	904	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	A7LI12	Missense_Mutation	SNP	ENST00000405314.2	1	1	hg19	c.807G>T	CCDS54278.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614232	0.46631	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12879	2.64	4.58	1.12	0.20585	4.58	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.783384	0.09963	U	0.733215	T	0.11024	0.0269	L	0.37697	1.125	0.22571	N	0.998973	P	0.46656	0.882	B	0.42282	0.382	T	0.22906	-1.0203	10	0.44086	T	0.13	-14.1742	5.1227	0.14869	0.0985:0.0:0.5353:0.3662	.	328	Q2WEN9	CEA16_HUMAN	H	334;269	ENSP00000385576:Q269H	ENSP00000379974:Q334H	Q	+	3	2	2	CEACAM16	49900845	49900845	1.000000	0.71417	0.945000	0.38365	0.864000	0.49448	1.107000	0.31110	0.153000	0.19213	0.555000	0.69702	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	XM_371177			61	61		235	233	1		1	0		0	0	54	0		1	0	0	1	0	0	0	61	235
PLIN5	440503	broad.mit.edu	37	19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	387	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741																																						ENST00000381848.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1159-1161)gaG>gaT		perilipin 5							19.0	24.0	22.0					19																	4523771		2072	4154	6226	SO:0001583	missense	440503	0	0					g.chr19:4523771C>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1161G>T	chr19.hg19:g.4523771C>A	ENSP00000371272:p.Glu387Asp	0						p.E387D	NM_001013706.2	NP_001013728.2	1	2	3	2.010022	Q00G26	PLIN5_HUMAN		8	1241	-			A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	1	1	hg19	c.1161G>T	CCDS42473.1	1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062678	0.08388	.	.	ENSG00000214456	ENST00000381848	T	0.13089	2.62	4.62	-2.16	0.07080	4.62	-2.16	0.07080	.	2.270970	0.03127	U	0.164645	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	10	0.18710	T	0.47	-8.503	1.0071	0.01489	0.1753:0.3071:0.3045:0.213	.	387	Q00G26	PLIN5_HUMAN	D	387	ENSP00000371272:E387D	ENSP00000371272:E387D	E	-	3	2	2	PLIN5	4474771	4474771	0.005000	0.15991	0.085000	0.20634	0.005000	0.04900	-0.067000	0.11579	0.030000	0.15379	-0.350000	0.07774	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_001013706			85	83		341	334	0		1	0		0	0	62	0		1	0	0	1	0	0	0	85	341
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652																																						ENST00000381848.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(673-675)caC>caT		perilipin 5							54.0	66.0	62.0					19																	4525690		2132	4229	6361	SO:0001819	synonymous_variant	440503	0	0					g.chr19:4525690G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.675C>T	chr19.hg19:g.4525690G>A		0						p.H225H	NM_001013706.2	NP_001013728.2	1	2	3	2.010022	Q00G26	PLIN5_HUMAN		6	755	-			A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	1	1	hg19	c.675C>T	CCDS42473.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	0	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_001013706			73	73		318	311	1		1	0		0	0	75	0		1	5.256844e-01	0	1	0	8	0	73	318
CEACAM16	388551	broad.mit.edu	37	19	45213775	45213775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000405314.2	+	6	1372	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CEACAM16_ENST00000587331.1_Silent_p.G425G|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652																																						ENST00000405314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1273-1275)ggG>ggA		carcinoembryonic antigen-related cell adhesion molecule 16							97.0	106.0	103.0					19																	45213775		2010	4161	6171	SO:0001819	synonymous_variant	388551	0	0					g.chr19:45213775G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>A	chr19.hg19:g.45213775G>A		0					CEACAM16_ENST00000587331.1_Silent_p.G425G|CTB-171A8.1_ENST00000590796.1_RNA	p.G425G			1	2	3	2.010022	Q2WEN9	CEA16_HUMAN		6	1372	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	A7LI12	Silent	SNP	ENST00000405314.2	1	1	hg19	c.1275G>A	CCDS54278.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-20.000000	1	0.170000	XM_371177			113	110		503	494	1		1			0	0	120	0		1	0	0	0	0	0	0	113	503
BCL3	602	broad.mit.edu	37	19	45260657	45260657	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	266					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCGCGGTGCCGACATCGACG	0.687			T	IGH@	CLL																																	ENST00000164227.5	1.000000	0.490000	1	8.000000e-01	0.990000	0.929987	0.990000	1.000000				Dom	yes			Dom	yes		19	19q13	19q13	602	T	B-cell CLL/lymphoma 3				L	L	IGH@		CLL		0				10						c.(796-798)gcC>gcT		B-cell CLL/lymphoma 3							22.0	17.0	19.0					19																	45260657		2202	4297	6499	SO:0001819	synonymous_variant	602	0	0					g.chr19:45260657C>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.798C>T	chr19.hg19:g.45260657C>T		0						p.A266A	NM_005178.4	NP_005169.2	1	2	3	2.010022	P20749	BCL3_HUMAN		5	1042	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)		Silent	SNP	ENST00000164227.5	0	1	hg19	c.798C>T	CCDS12642.2	1	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059655	0.08339	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.71	-9.42	0.00610	4.71	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.1182	2.5814	0.04819	0.1967:0.4096:0.1633:0.2304	.	.	.	.	X	150	.	.	R	+	1	2	2	BCL3	49952497	49952497	0.000000	0.05858	0.087000	0.20705	0.384000	0.30261	-11.547000	0.00003	-3.317000	0.00189	0.305000	0.20034	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-3.165786	1	0.170000	NM_005178			5	5		44	42	0		1	1		0	0	12	0		9.340860e-01	9.911252e-01	0	8	0	81	0	5	44
BCL3	602	broad.mit.edu	37	19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGTCTCCCCCCAGGGACCCC	0.627			T	IGH@	CLL																																	ENST00000164227.5	1.000000	0.350000	5.200000e-01	4.000000e-01	0.450000	0.495924	0.450000	0.440000				Dom	yes			Dom	yes		19	19q13	19q13	602	T	B-cell CLL/lymphoma 3				L	L	IGH@		CLL		0				10						c.(1222-1224)cCc>cAc		B-cell CLL/lymphoma 3							193.0	207.0	202.0					19																	45262730		2203	4300	6503	SO:0001583	missense	602	0	0					g.chr19:45262730C>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1223C>A	chr19.hg19:g.45262730C>A	ENSP00000164227:p.Pro408His	0						p.P408H	NM_005178.4	NP_005169.2	1	2	3	2.010022	P20749	BCL3_HUMAN		9	1467	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)		Missense_Mutation	SNP	ENST00000164227.5	1	1	hg19	c.1223C>A	CCDS12642.2	0	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650273	0.47362	.	.	ENSG00000069399	ENST00000164227	T	0.41758	0.99	4.5	3.46	0.39613	4.5	3.46	0.39613	.	0.284212	0.25344	N	0.031353	T	0.31482	0.0798	L	0.27053	0.805	0.28683	N	0.904996	P	0.45283	0.855	B	0.43536	0.423	T	0.21655	-1.0239	10	0.66056	D	0.02	-0.612	9.4966	0.38993	0.0:0.8948:0.0:0.1052	.	408	P20749	BCL3_HUMAN	H	408	ENSP00000164227:P408H	ENSP00000164227:P408H	P	+	2	0	0	BCL3	49954570	49954570	0.972000	0.33761	0.991000	0.47740	0.913000	0.54294	1.116000	0.31221	2.022000	0.59522	0.491000	0.48974	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	0	0	0		18	4	2	1		1	1	426		426	419	1	2.060000	-3.630395	1	0.170000	NM_005178			85	82		2168	2065	0		1	1		1	0	426	0		1	9.224849e-01	0	10	0	178	0	85	2168
CBLC	23624	broad.mit.edu	37	19	45287578	45287578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	279	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTATGTGAGCTCAGATGGCA	0.597			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270279.3	1.000000	0.300000	7.500000e-01	4.000000e-01	0.540000	0.583313	0.540000	0.500000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c				L	L			AML		0				17						c.(835-837)agC>agT		Cbl proto-oncogene C, E3 ubiquitin protein ligase							129.0	85.0	100.0					19																	45287578		2203	4300	6503	SO:0001819	synonymous_variant	23624	0	0					g.chr19:45287578C>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.837C>T	chr19.hg19:g.45287578C>T		0		OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	CBLC_ENST00000341505.4_Intron	p.S279S	NM_012116.3	NP_036248.3	1	2	3	2.010022	Q9ULV8	CBLC_HUMAN		5	900	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	1	1	hg19	c.837C>T	CCDS12643.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-4.311169	1	0.170000	NM_012116			13	13		284	275	1		1	1		0	0	68	0		9.994661e-01	8.503244e-01	0	7	0	70	0	13	284
LRG1	116844	broad.mit.edu	37	19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	327	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACAGCGCGTGTCATTCTG	0.592																																						ENST00000306390.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(979-981)aCg>aTg		leucine-rich alpha-2-glycoprotein 1							50.0	47.0	48.0					19																	4538016		2203	4300	6503	SO:0001583	missense	116844	3	121412	33				g.chr19:4538016G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.980C>T	chr19.hg19:g.4538016G>A	ENSP00000302621:p.Thr327Met	0					PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank	p.T327M	NM_052972.2	NP_443204.1	1	2	3	2.010022	P02750	A2GL_HUMAN		2	1440	-		Hepatocellular(1079;0.137)	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	1	1	hg19	c.980C>T	CCDS12130.1	1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883464	0.51908	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02446	4.29	5.15	5.15	0.70609	5.15	5.15	0.70609	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000958	T	0.12944	0.0314	M	0.72479	2.2	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01675	-1.1298	10	0.49607	T	0.09	-19.7871	13.9796	0.64297	0.0:0.0:1.0:0.0	.	327	P02750	A2GL_HUMAN	M	327;310	ENSP00000302621:T327M	ENSP00000302621:T327M	T	-	2	0	0	LRG1	4489016	4489016	0.378000	0.25114	0.093000	0.20910	0.042000	0.13812	3.111000	0.50360	2.685000	0.91497	0.591000	0.81541	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_052972			58	55		291	287	1		1	1		0	0	56	0		1	1	0	28	0	103	0	58	291
BCAM	4059	broad.mit.edu	37	19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000270233.6	+	12	1569	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000589651.1_Missense_Mutation_p.S516N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	516	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCGCCCTGAGCCGCGATGGC	0.652																																						ENST00000270233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1546-1548)aGc>aAc		basal cell adhesion molecule (Lutheran blood group)							78.0	85.0	83.0					19																	45322676		2203	4300	6503	SO:0001583	missense	4059	0	0					g.chr19:45322676G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1547G>A	chr19.hg19:g.45322676G>A	ENSP00000270233:p.Ser516Asn	0					BCAM_ENST00000589651.1_Missense_Mutation_p.S516N	p.S516N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	1	2	3	2.010022	P50895	BCAM_HUMAN		12	1569	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	1	1	hg19	c.1547G>A	CCDS12644.1	1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302032	0.40694	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14266	2.52;2.52	4.27	3.1	0.35709	4.27	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12603	0.0306	L	0.37630	1.12	0.23727	N	0.997001	P	0.37914	0.611	B	0.42882	0.401	T	0.14282	-1.0478	9	0.13853	T	0.58	-21.7405	9.1554	0.36990	0.0:0.2943:0.7057:0.0	.	516	P50895	BCAM_HUMAN	N	516	ENSP00000270233:S516N;ENSP00000375817:S516N	ENSP00000270233:S516N	S	+	2	0	0	BCAM	50014516	50014516	0.979000	0.34478	0.998000	0.56505	0.778000	0.44026	1.369000	0.34227	2.117000	0.64856	0.538000	0.68166	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000	NM_005581			130	129		516	510	1		1	1		0	0	109	0		1	1	0	79	0	192	0	130	516
PVRL2	5819	broad.mit.edu	37	19	45391366	45391366	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|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)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572																																						ENST00000252483.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.e9-1		poliovirus receptor-related 2 (herpesvirus entry mediator B)							47.0	49.0	48.0					19																	45391366		2049	4190	6239	SO:0001630	splice_region_variant	5819	0	0					g.chr19:45391366G>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1348-1G>T	chr19.hg19:g.45391366G>T		0					CTB-129P6.4_ENST00000585408.1_RNA		NM_001042724.1	NP_001036189.1	1	2	3	2.010022	Q92692	PVRL2_HUMAN		9	1347	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	A8K5L5|O75455|Q6IBI6|Q96J29	Splice_Site	SNP	ENST00000252483.5	1	1	hg19		CCDS42576.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PVRL2	50083206	50083206	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.251228	1	0.170000	NM_002856	Intron		69	67		286	281	1		1	1		0	0	63	0		1	2.553146e-01	0	5	0	0	0	69	286
APOE	348	broad.mit.edu	37	19	45412285	45412285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412285C>T	ENST00000252486.4	+	4	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	244	8 X 22 AA approximate tandem repeats.				aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGGACCCGCGACCGCCTGG	0.746																																						ENST00000252486.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.991065	0.990000	1.000000																										0				4						c.(730-732)cgC>cgT		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						5.0	6.0	6.0					19																	45412285		2024	4029	6053	SO:0001819	synonymous_variant	348	0	0					g.chr19:45412285C>T	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.732C>T	chr19.hg19:g.45412285C>T		0						p.R244R	NM_000041.2	NP_000032.1	1	2	3	2.010022	P02649	APOE_HUMAN		4	843	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	B2RC15|C0JYY5|Q9P2S4	Silent	SNP	ENST00000252486.4	0	1	hg19	c.732C>T	CCDS12647.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	1	0	0		2	2	2	0		0	0	10		10	9	1	2.060000	-15.283220	1	0.170000	NM_000041			7	7		35	35	0		1	1		0	0	10	0		9.838383e-01	1	0	8	0	1530	0	7	35
APOE	348	broad.mit.edu	37	19	45412290	45412290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412290G>A	ENST00000252486.4	+	4	848	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	246	8 X 22 AA approximate tandem repeats.		R -> C (in form E2 Dunedin).		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCGCGACCGCCTGGACGAG	0.751																																						ENST00000252486.4	1.000000	0.490000	1	8.000000e-01	0.990000	0.929987	0.990000	1.000000																										0				4						c.(736-738)cGc>cAc		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						6.0	7.0	7.0					19																	45412290		2066	4111	6177	SO:0001583	missense	348	0	0					g.chr19:45412290G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.737G>A	chr19.hg19:g.45412290G>A	ENSP00000252486:p.Arg246His	0						p.R246H	NM_000041.2	NP_000032.1	1	2	3	2.010022	P02649	APOE_HUMAN		4	848	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	0	1	hg19	c.737G>A	CCDS12647.1	1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921081	0.33908	.	.	ENSG00000130203	ENST00000252486	T	0.74002	-0.8	4.73	-3.36	0.04913	4.73	-3.36	0.04913	Apolipoprotein/apolipophorin (1);	0.559596	0.15717	N	0.248099	T	0.50956	0.1646	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28808	-1.0032	10	0.36615	T	0.2	-16.8511	1.0706	0.01620	0.3691:0.237:0.2591:0.1349	.	246	P02649	APOE_HUMAN	H	246	ENSP00000252486:R246H	ENSP00000252486:R246H	R	+	2	0	0	APOE	50104130	50104130	0.334000	0.24739	0.709000	0.30452	0.804000	0.45430	0.487000	0.22356	-0.086000	0.12550	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	0	0	0		2	2	2	0		0	0	9		9	8	1	2.060000	-10.861360	1	0.170000	NM_000041			5	5		44	44	0		1	1		0	0	9	0		9.409870e-01	1	0	4	0	1670	0	5	44
CLPTM1	1209	broad.mit.edu	37	19	45489787	45489787	+	Silent	SNP	C	C	T	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000337392.5	+	7	897	c.747C>T	c.(745-747)gaC>gaT	p.D249D	CLPTM1_ENST00000541297.2_Silent_p.D235D|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.D147D	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	249					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622																																						ENST00000337392.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(745-747)gaC>gaT		cleft lip and palate associated transmembrane protein 1							154.0	118.0	130.0					19																	45489787		2203	4300	6503	SO:0001819	synonymous_variant	1209	0	0					g.chr19:45489787C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.747C>T	chr19.hg19:g.45489787C>T		0					CLPTM1_ENST00000541297.2_Silent_p.D235D|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.D147D	p.D249D	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	1	2	3	2.010022	O96005	CLPT1_HUMAN		7	897	+		all_neural(266;0.224)|Ovarian(192;0.231)	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	1	1	hg19	c.747C>T	CCDS12651.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_001294			68	68		348	342	0		1	1		0	0	91	0		1	1	0	136	0	393	0	68	348
CLPTM1	1209	broad.mit.edu	37	19	45490528	45490528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000337392.5	+	8	1035	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CLPTM1_ENST00000541297.2_Silent_p.N281N|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.N193N	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582																																						ENST00000337392.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(883-885)aaC>aaT		cleft lip and palate associated transmembrane protein 1							119.0	124.0	122.0					19																	45490528		2203	4300	6503	SO:0001819	synonymous_variant	1209	0	0					g.chr19:45490528C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.885C>T	chr19.hg19:g.45490528C>T		0					CLPTM1_ENST00000541297.2_Silent_p.N281N|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.N193N	p.N295N	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	1	2	3	2.010022	O96005	CLPT1_HUMAN		8	1035	+		all_neural(266;0.224)|Ovarian(192;0.231)	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	1	1	hg19	c.885C>T	CCDS12651.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-20.000000	1	0.170000	NM_001294			177	174		835	822	0		1	1		0	0	173	0		1	1	0	155	0	403	0	177	835
CLPTM1	1209	broad.mit.edu	37	19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000337392.5	+	14	2140	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	CLPTM1_ENST00000541297.2_Missense_Mutation_p.E650K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	664					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAAGCCAGCAGAGGACAAGAA	0.687																																						ENST00000337392.5	1.000000	0.320000	8.100000e-01	4.400000e-01	0.580000	0.622096	0.580000	0.550000																										0				23						c.(1990-1992)Gag>Aag		cleft lip and palate associated transmembrane protein 1							42.0	47.0	45.0					19																	45496135		2202	4300	6502	SO:0001583	missense	1209	0	0					g.chr19:45496135G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1990G>A	chr19.hg19:g.45496135G>A	ENSP00000336994:p.Glu664Lys	0					CLPTM1_ENST00000541297.2_Missense_Mutation_p.E650K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K	p.E664K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	1	2	3	2.010022	O96005	CLPT1_HUMAN		14	2140	+		all_neural(266;0.224)|Ovarian(192;0.231)	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	1	1	hg19	c.1990G>A	CCDS12651.1	0	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306244	0.60305	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392	.	.	.	5.11	2.96	0.34315	5.11	2.96	0.34315	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.27186	N	0.960542	B;B	0.11235	0.0;0.004	B;B	0.09377	0.003;0.004	T	0.15378	-1.0439	8	0.42905	T	0.14	.	7.1091	0.25380	0.0916:0.1721:0.7363:0.0	.	650;664	F5H8J3;O96005	.;CLPT1_HUMAN	K	562;650;664	.	ENSP00000336994:E664K	E	+	1	0	0	CLPTM1	50187975	50187975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.229000	0.51278	0.737000	0.32582	0.650000	0.86243	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-3.239941	1	0.170000	NM_001294			13	13		262	258	0		1	1		0	0	40	0		9.995240e-01	9.992390e-01	0	18	0	233	0	13	262
SEMA6B	10501	broad.mit.edu	37	19	4558383	4558383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	ENST00000586582.1	-	2	397	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_ENST00000301293.3_Silent_p.E29E|SEMA6B_ENST00000586965.1_Silent_p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	29					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			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)		GCGGCGGCTCCTCAGGAAAGA	0.711											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586582.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998598	0.990000	1.000000																										0				21						c.(85-87)gaG>gaA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B																																				SO:0001819	synonymous_variant	10501	2	114610	28				g.chr19:4558383C>T	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.87G>A	chr19.hg19:g.4558383C>T		0		OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619	SEMA6B_ENST00000301293.3_Silent_p.E29E|SEMA6B_ENST00000586965.1_Silent_p.E29E	p.E29E	NM_032108.3	NP_115484.2	1	2	3	2.010022	Q9H3T3	SEM6B_HUMAN		2	397	-		Hepatocellular(1079;0.137)	A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	0	1	hg19	c.87G>A	CCDS12131.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-18.938940	1	0.170000	NM_032108			9	9		32	31	0		1	0		0	0	8	0		9.954909e-01	9.102232e-01	0	1	0	17	0	9	32
ZNF296	162979	broad.mit.edu	37	19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	219					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682																																						ENST00000303809.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(655-657)Ccc>Tcc		zinc finger protein 296							25.0	27.0	26.0					19																	45575632		2177	4249	6426	SO:0001583	missense	162979	0	0					g.chr19:45575632G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.655C>T	chr19.hg19:g.45575632G>A	ENSP00000302770:p.Pro219Ser	0						p.P219S	NM_145288.1	NP_660331.1	1	2	3	2.010022	Q8WUU4	ZN296_HUMAN		3	869	-				Missense_Mutation	SNP	ENST00000303809.2	1	1	hg19	c.655C>T	CCDS12653.1	1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345298	0.05208	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05580	3.42	5.51	-8.85	0.00799	5.51	-8.85	0.00799	.	1.219780	0.05723	N	0.598054	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.42172	-0.9467	10	0.45353	T	0.12	-2.9278	1.5955	0.02663	0.436:0.1057:0.2429:0.2154	.	219	Q8WUU4	ZN296_HUMAN	S	219;195	ENSP00000302770:P219S	ENSP00000302770:P219S	P	-	1	0	0	ZNF296	50267472	50267472	0.926000	0.31397	0.000000	0.03702	0.154000	0.21943	2.041000	0.41213	-1.687000	0.01437	0.650000	0.86243	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_145288			108	108		328	322	1		1	0		0	0	61	0		1	5.508100e-01	0	1	0	6	0	108	328
TRAPPC6A	79090	broad.mit.edu	37	19	45668402	45668402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000585934.1	-	2	153	c.135C>T	c.(133-135)ggC>ggT	p.G45G	TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000592647.1_Intron|TRAPPC6A_ENST00000006275.4_Silent_p.G59G	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	45					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682																																						ENST00000585934.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				8						c.(133-135)ggC>ggT		trafficking protein particle complex 6A							47.0	41.0	43.0					19																	45668402		2202	4296	6498	SO:0001819	synonymous_variant	79090	0	0					g.chr19:45668402G>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.135C>T	chr19.hg19:g.45668402G>A		0					TRAPPC6A_ENST00000006275.4_Silent_p.G59G|TRAPPC6A_ENST00000592647.1_Intron|TRAPPC6A_ENST00000588062.1_Intron	p.G45G	NM_001270891.1	NP_001257820.1	1	2	3	2.010022	O75865	TPC6A_HUMAN		2	153	-		all_neural(266;0.224)|Ovarian(192;0.231)	K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Silent	SNP	ENST00000585934.1	1	1	hg19	c.135C>T	CCDS59397.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_024108			22	22		84	82	1		1	1		0	0	17	0		9.999994e-01	1	0	16	0	142	0	22	84
MARK4	57787	broad.mit.edu	37	19	45762366	45762366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000262891.4	+	2	502	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000300843.4_Silent_p.G57G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	57					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647																																						ENST00000262891.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999736	0.990000	1.000000																										0				31						c.(169-171)ggC>ggT		MAP/microtubule affinity-regulating kinase 4							44.0	38.0	40.0					19																	45762366		2203	4300	6503	SO:0001819	synonymous_variant	57787	0	0					g.chr19:45762366C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.171C>T	chr19.hg19:g.45762366C>T		0					MARK4_ENST00000300843.4_Silent_p.G57G	p.G57G	NM_001199867.1	NP_001186796.1	1	2	3	2.010022	Q96L34	MARK4_HUMAN		2	502	+		all_neural(266;0.224)|Ovarian(192;0.231)	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	1	1	hg19	c.171C>T	CCDS56097.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_031417			28	28		172	170	1		1	1		0	0	45	0		1	9.999684e-01	0	15	0	89	0	28	172
MARK4	57787	broad.mit.edu	37	19	45774951	45774951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000262891.4	+	8	1102	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000300843.4_Silent_p.D257D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667																																						ENST00000262891.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(769-771)gaC>gaT		MAP/microtubule affinity-regulating kinase 4							47.0	52.0	50.0					19																	45774951		2203	4300	6503	SO:0001819	synonymous_variant	57787	2	121406	37				g.chr19:45774951C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.771C>T	chr19.hg19:g.45774951C>T		0					MARK4_ENST00000300843.4_Silent_p.D257D	p.D257D	NM_001199867.1	NP_001186796.1	1	2	3	2.010022	Q96L34	MARK4_HUMAN		8	1102	+		all_neural(266;0.224)|Ovarian(192;0.231)	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	1	1	hg19	c.771C>T	CCDS56097.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	0		2	2	2	0		0	0	93		93	87	1	2.060000	-20.000000	1	0.170000	NM_031417			99	97		383	369	1		1	1		0	0	93	0		1	9.999998e-01	0	18	0	69	0	99	383
MARK4	57787	broad.mit.edu	37	19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000262891.4	+	9	1146	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000300843.4_Missense_Mutation_p.K272T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577																																						ENST00000262891.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(814-816)aAg>aCg		MAP/microtubule affinity-regulating kinase 4							99.0	102.0	101.0					19																	45781209		2203	4300	6503	SO:0001583	missense	57787	0	0					g.chr19:45781209A>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.815A>C	chr19.hg19:g.45781209A>C	ENSP00000262891:p.Lys272Thr	0					MARK4_ENST00000300843.4_Missense_Mutation_p.K272T	p.K272T	NM_001199867.1	NP_001186796.1	1	2	3	2.010022	Q96L34	MARK4_HUMAN		9	1146	+		all_neural(266;0.224)|Ovarian(192;0.231)	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	1	1	hg19	c.815A>C	CCDS56097.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356875	0.82243	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.66638	-0.22;-0.22	4.19	4.19	0.49359	4.19	4.19	0.49359	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	0.66406	0.2786	N	0.11284	0.12	0.80722	D	1	P;P;P	0.40066	0.701;0.518;0.462	D;P;P	0.64410	0.925;0.825;0.732	T	0.71988	-0.4426	10	0.87932	D	0	.	11.5216	0.50553	1.0:0.0:0.0:0.0	.	138;272;272	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	302;272;272	ENSP00000262891:K272T;ENSP00000300843:K272T	ENSP00000262891:K272T	K	+	2	0	0	MARK4	50473049	50473049	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	8.993000	0.93524	1.906000	0.55180	0.379000	0.24179	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_031417			69	68		323	310	1		1	1		0	0	57	0		1	9.999993e-01	0	15	0	83	0	69	323
MARK4	57787	broad.mit.edu	37	19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000262891.4	+	17	2301	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	MARK4_ENST00000300843.4_Missense_Mutation_p.D684N	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	657					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652																																						ENST00000262891.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1969-1971)cGa>cAa		MAP/microtubule affinity-regulating kinase 4							157.0	166.0	163.0					19																	45805679		2203	4300	6503	SO:0001583	missense	57787	1	121412	40				g.chr19:45805679G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1970G>A	chr19.hg19:g.45805679G>A	ENSP00000262891:p.Arg657Gln	0					MARK4_ENST00000300843.4_Missense_Mutation_p.D684N	p.R657Q	NM_001199867.1	NP_001186796.1	1	2	3	2.010022	Q96L34	MARK4_HUMAN		17	2301	+		all_neural(266;0.224)|Ovarian(192;0.231)	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	1	1	hg19	c.1970G>A	CCDS56097.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997807|3.997807	0.74818|0.74818	.|.	.|.	ENSG00000007047|ENSG00000007047	ENST00000300843|ENST00000262891	T|T	0.72051|0.53206	-0.62|0.63	5.4|5.4	4.35|4.35	0.52113|0.52113	5.4|5.4	4.35|4.35	0.52113|0.52113	.|Kinase-associated KA1 (2);	.|0.106561	.|0.40728	.|N	.|0.001033	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.72894|0.72894	2.215|2.215	0.26359|0.26359	N|N	0.977081|0.977081	D|D	0.56746|0.61080	0.977|0.989	P|P	0.46510|0.45377	0.519|0.478	T|T	0.55159|0.55159	-0.8184|-0.8184	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0502|14.0502	0.64732|0.64732	0.0:0.1519:0.8481:0.0|0.0:0.1519:0.8481:0.0	.|.	684|657	Q96L34-2|Q96L34	.|MARK4_HUMAN	N|Q	684|657	ENSP00000300843:D684N|ENSP00000262891:R657Q	ENSP00000300843:D684N|ENSP00000262891:R657Q	D|R	+|+	1|2	0|0	0|0	MARK4|MARK4	50497519|50497519	50497519|50497519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.044000|7.044000	0.76578|0.76578	1.254000|1.254000	0.44035|0.44035	0.563000|0.563000	0.77884|0.77884	GAT|CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	0		2	2	2	0		0	0	252		252	246	1	2.060000	-3.240712	1	0.170000	NM_031417			248	248		1120	1111	1		1	1		0	0	252	0		1	9.916084e-01	0	11	0	24	0	248	1120
MARK4	57787	broad.mit.edu	37	19	45805761	45805761	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805761C>A	ENST00000262891.4	+	17	2383	c.2052C>A	c.(2050-2052)gcC>gcA	p.A684A	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	684					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCAGCCGCCCGCTGCCGCT	0.736																																						ENST00000262891.4	1.000000	0.260000	5.700000e-01	3.300000e-01	0.430000	0.477658	0.430000	0.410000																										0				31						c.(2050-2052)gcC>gcA		MAP/microtubule affinity-regulating kinase 4							7.0	10.0	9.0					19																	45805761		687	1584	2271	SO:0001819	synonymous_variant	57787	0	0					g.chr19:45805761C>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.2052C>A	chr19.hg19:g.45805761C>A		0					MARK4_ENST00000300843.4_3'UTR	p.A684A	NM_001199867.1	NP_001186796.1	1	2	3	2.010022	Q96L34	MARK4_HUMAN		17	2383	+		all_neural(266;0.224)|Ovarian(192;0.231)	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	0	1	hg19	c.2052C>A	CCDS56097.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	0	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-17.811860	1	0.170000	NM_031417			19	21		524	493	0		1	0		0	0	56	0		9.999850e-01	1.677372e-01	0	0	0	20	0	19	524
CKM	1158	broad.mit.edu	37	19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	316	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)			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)	CTTCTGCAGACGCAGGCGGGT	0.637																																						ENST00000221476.3	1.000000	0.610000	1	8.300000e-01	0.990000	0.940305	0.990000	1.000000																										0				17						c.(946-948)cGt>cAt		creatine kinase, muscle	Creatine(DB00148)						60.0	57.0	58.0					19																	45810739		2203	4300	6503	SO:0001583	missense	1158	0	0					g.chr19:45810739C>T	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.947G>A	chr19.hg19:g.45810739C>T	ENSP00000221476:p.Arg316His	0						p.R316H	NM_001824.4	NP_001815.2	1	2	3	2.010022	P06732	KCRM_HUMAN		7	1121	-		Ovarian(192;0.0336)|all_neural(266;0.112)	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	1	1	hg19	c.947G>A	CCDS12659.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834522	0.91036	.	.	ENSG00000104879	ENST00000221476	T	0.23754	1.89	5.3	5.3	0.74995	5.3	5.3	0.74995	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.050664	0.85682	N	0.000000	T	0.52484	0.1737	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53774	-0.8391	10	0.51188	T	0.08	-38.8761	16.4485	0.83972	0.0:1.0:0.0:0.0	.	316	P06732	KCRM_HUMAN	H	316	ENSP00000221476:R316H	ENSP00000221476:R316H	R	-	2	0	0	CKM	50502579	50502579	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.049000	0.71053	2.500000	0.84329	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-18.005360	1	0.170000				12	11		120	114	0		1	1		0	0	34	0		9.989718e-01	1.459386e-01	0	2	0	5	0	12	120
CKM	1158	broad.mit.edu	37	19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	84	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				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)			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)	TCCTTGAAAACTTCGTAGGAC	0.557																																						ENST00000221476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				17						c.(250-252)Gtt>Ttt		creatine kinase, muscle	Creatine(DB00148)						108.0	88.0	95.0					19																	45821181		2203	4300	6503	SO:0001583	missense	1158	0	0					g.chr19:45821181C>A	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.250G>T	chr19.hg19:g.45821181C>A	ENSP00000221476:p.Val84Phe	0						p.V84F	NM_001824.4	NP_001815.2	1	2	3	2.010022	P06732	KCRM_HUMAN		3	424	-		Ovarian(192;0.0336)|all_neural(266;0.112)	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	1	1	hg19	c.250G>T	CCDS12659.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131791	0.56828	.	.	ENSG00000104879	ENST00000221476	T	0.68765	-0.35	4.62	4.62	0.57501	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.209227	0.39687	N	0.001295	D	0.84705	0.5531	H	0.97240	3.965	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	D	0.90235	0.4282	10	0.87932	D	0	-12.8929	15.0581	0.71930	0.0:1.0:0.0:0.0	.	84	P06732	KCRM_HUMAN	F	84	ENSP00000221476:V84F	ENSP00000221476:V84F	V	-	1	0	0	CKM	50513021	50513021	1.000000	0.71417	0.056000	0.19401	0.042000	0.13812	7.283000	0.78640	2.418000	0.82041	0.650000	0.86243	GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				37	37		201	194	1		1			0	0	49	0		1	0	0	0	0	0	0	37	201
CKM	1158	broad.mit.edu	37	19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	71	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				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)			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)	GCAGCCCACGGTCATGATGAA	0.602																																						ENST00000221476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999834	0.990000	1.000000																										0				17						c.(211-213)aCc>aAc		creatine kinase, muscle	Creatine(DB00148)						59.0	50.0	53.0					19																	45821219		2203	4300	6503	SO:0001583	missense	1158	0	0					g.chr19:45821219G>T	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.212C>A	chr19.hg19:g.45821219G>T	ENSP00000221476:p.Thr71Asn	0						p.T71N	NM_001824.4	NP_001815.2	1	2	3	2.010022	P06732	KCRM_HUMAN		3	386	-		Ovarian(192;0.0336)|all_neural(266;0.112)	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	1	1	hg19	c.212C>A	CCDS12659.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941778	0.73557	.	.	ENSG00000104879	ENST00000221476	T	0.65549	-0.16	4.62	4.62	0.57501	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.057508	0.64402	D	0.000001	T	0.72003	0.3407	M	0.89601	3.045	0.46678	D	0.999158	B	0.33198	0.401	B	0.38655	0.278	T	0.75886	-0.3159	10	0.45353	T	0.12	-32.8407	15.0581	0.71930	0.0:0.0:1.0:0.0	.	71	P06732	KCRM_HUMAN	N	71	ENSP00000221476:T71N	ENSP00000221476:T71N	T	-	2	0	0	CKM	50513059	50513059	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.215000	0.95146	2.418000	0.82041	0.650000	0.86243	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				29	28		174	167	1		1			0	0	46	0		1	0	0	0	0	0	0	29	174
ERCC2	2068	broad.mit.edu	37	19	45867704	45867704	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Silent_p.V208V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	232	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|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)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTCGTCGAAGACCACGACGG	0.632			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999857	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (D)	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	19q13.2-q13.3	2068	Mis, N, F, S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""				E	E		skin basal cell, skin squamous cell, melanoma			0				9						c.(694-696)gtC>gtA	Nucleotide excision repair (NER)	excision repair cross-complementation group 2							43.0	37.0	39.0					19																	45867704		2203	4300	6503	SO:0001819	synonymous_variant	2068	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr19:45867704G>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.696C>A	chr19.hg19:g.45867704G>T		0					ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000485403.2_Silent_p.V208V	p.V232V	NM_000400.3	NP_000391.1	1	2	3	2.010022	P18074	ERCC2_HUMAN		8	773	-		Ovarian(192;0.0728)|all_neural(266;0.112)	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	1	1	hg19	c.696C>A	CCDS33049.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_000400			29	29		172	167	1		1	1		0	0	28	0		1	9.553792e-01	0	9	0	24	0	29	172
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2290-2292)taC>taT		protein phosphatase 1, regulatory subunit 13 like							62.0	51.0	55.0					19																	45885941		2203	4300	6503	SO:0001819	synonymous_variant	10848	0	0					g.chr19:45885941G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	chr19.hg19:g.45885941G>A		0					PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	p.Y764Y	NM_001142502.1	NP_001135974.1	1	2	3	2.010022	Q8WUF5	IASPP_HUMAN		12	2370	-		all_neural(266;0.224)|Ovarian(192;0.231)	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	1	1	hg19	c.2292C>T	CCDS33050.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006663			58	57		236	233	1		1	1		0	0	48	0		1	9.999988e-01	0	34	0	51	0	58	236
PPP1R13L	10848	broad.mit.edu	37	19	45888926	45888926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	714					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGCGCCGTGCTGCACCAGCG	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				26						c.(2140-2142)caG>caA		protein phosphatase 1, regulatory subunit 13 like							55.0	46.0	49.0					19																	45888926		2201	4298	6499	SO:0001819	synonymous_variant	10848	1	121192	27				g.chr19:45888926C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2142G>A	chr19.hg19:g.45888926C>T		0					PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	p.Q714Q	NM_001142502.1	NP_001135974.1	1	2	3	2.010022	Q8WUF5	IASPP_HUMAN		11	2220	-		all_neural(266;0.224)|Ovarian(192;0.231)	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	1	1	hg19	c.2142G>A	CCDS33050.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006663			40	39		213	212	1		1	1		0	0	35	0		1	1	0	48	0	113	0	40	213
PPP1R13L	10848	broad.mit.edu	37	19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	629					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGAGGAGCACCAGAGGGTTG	0.736																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2	1.000000	0.690000	1	9.900000e-01	0.990000	0.975916	0.990000	1.000000																										0				26						c.(1885-1887)Gtg>Atg		protein phosphatase 1, regulatory subunit 13 like							8.0	9.0	9.0					19																	45889369		2184	4267	6451	SO:0001583	missense	10848	1	119088	18				g.chr19:45889369C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1885G>A	chr19.hg19:g.45889369C>T	ENSP00000403902:p.Val629Met	0					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	p.V629M	NM_001142502.1	NP_001135974.1	1	2	3	2.010022	Q8WUF5	IASPP_HUMAN		9	1963	-		all_neural(266;0.224)|Ovarian(192;0.231)	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	0	1	hg19	c.1885G>A	CCDS33050.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052486	0.55218	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.99	4.99	0.66335	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.197616	0.44285	D	0.000463	T	0.55940	0.1952	N	0.19112	0.55	0.42107	D	0.991363	D;D	0.71674	0.998;0.997	P;P	0.61800	0.894;0.886	T	0.62291	-0.6885	10	0.87932	D	0	.	15.8232	0.78676	0.0:1.0:0.0:0.0	.	629;208	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	629;629;203	ENSP00000403902:V629M;ENSP00000354218:V629M	ENSP00000221478:V203M	V	-	1	0	0	PPP1R13L	50581209	50581209	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	5.135000	0.64777	2.601000	0.87937	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-14.404260	1	0.170000	NM_006663			7	7		48	47	1		1	1		0	0	11	0		9.818487e-01	7.681270e-01	0	7	0	14	0	7	48
ERCC1	2067	broad.mit.edu	37	19	45918173	45918173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000300853.3	-	7	1239	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000340192.7_Silent_p.E216E|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_5'Flank	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	216					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGGTTTCTGCTCATAGGCCT	0.602								Nucleotide excision repair (NER)																														ENST00000300853.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				15						c.(646-648)gaG>gaA	Nucleotide excision repair (NER)	excision repair cross-complementation group 1							109.0	93.0	99.0					19																	45918173		2203	4300	6503	SO:0001819	synonymous_variant	2067	0	0					g.chr19:45918173C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.648G>A	chr19.hg19:g.45918173C>T		0					ERCC1_ENST00000340192.7_Silent_p.E216E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000589165.1_Silent_p.E216E	p.E216E	NM_001983.3	NP_001974.1	1	2	3	2.010022	P07992	ERCC1_HUMAN		7	1239	-		Ovarian(192;0.051)|all_neural(266;0.112)	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	1	1	hg19	c.648G>A	CCDS12662.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_001983			45	43		276	271	1		1	1		0	0	71	0		1	1	0	118	0	295	0	45	276
ERCC1	2067	broad.mit.edu	37	19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000300853.3	-	3	775	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	62					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ATGGCATATTCGGCGTAGGTC	0.642								Nucleotide excision repair (NER)																														ENST00000300853.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(184-186)Gaa>Aaa	Nucleotide excision repair (NER)	excision repair cross-complementation group 1		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	79.0	76.0	77.0		184,184,184	4.8	0.9	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	62/274,62/298,62/324	45924573	1,13005	2203	4300	6503	SO:0001583	missense	2067	4	121412	37				g.chr19:45924573C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.184G>A	chr19.hg19:g.45924573C>T	ENSP00000300853:p.Glu62Lys	0					ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K	p.E62K	NM_001983.3	NP_001974.1	1	2	3	2.010022	P07992	ERCC1_HUMAN		3	775	-		Ovarian(192;0.051)|all_neural(266;0.112)	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	1	1	hg19	c.184G>A	CCDS12662.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548848	0.45383	2.27E-4	0.0	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.44083	0.95;0.95;0.93	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.247214	0.38272	N	0.001752	T	0.30448	0.0765	L	0.27053	0.805	0.32274	N	0.568456	D;P;D	0.59357	0.985;0.94;0.957	B;B;B	0.43155	0.41;0.269;0.225	T	0.26360	-1.0105	10	0.19147	T	0.46	-33.5429	13.6581	0.62349	0.0:1.0:0.0:0.0	.	62;62;62	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	K	62	ENSP00000300853:E62K;ENSP00000345203:E62K;ENSP00000013807:E62K	ENSP00000013807:E62K	E	-	1	0	0	ERCC1	50616413	50616413	0.950000	0.32346	0.932000	0.37286	0.053000	0.15095	2.455000	0.44988	2.372000	0.80975	0.491000	0.48974	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.929387	1	0.170000	NM_001983			82	80		368	358	1		1	1		0	0	77	0		1	1	0	61	0	239	0	82	368
RTN2	6253	broad.mit.edu	37	19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	rs199848753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000245923.4	-	9	1721	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RTN2_ENST00000344680.4_Missense_Mutation_p.R423W|RTN2_ENST00000590526.1_Missense_Mutation_p.R222W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|PPM1N_ENST00000401705.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	496	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17968	0.0		0.001	False		,,,				2504	0.0					ENST00000245923.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1486-1488)Cgg>Tgg		reticulon 2							105.0	100.0	101.0					19																	45991740		2203	4300	6503	SO:0001583	missense	6253	2	121412	36				g.chr19:45991740G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1486C>T	chr19.hg19:g.45991740G>A	ENSP00000245923:p.Arg496Trp	0					RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.R222W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W	p.R496W	NM_005619.4	NP_005610.1	1	2	3	2.010022	O75298	RTN2_HUMAN		9	1721	-		Ovarian(192;0.051)|all_neural(266;0.112)	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	1	1	hg19	c.1486C>T	CCDS12665.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.65	3.866636	0.72065	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.43688	0.94;0.94;0.94	5.58	3.28	0.37604	5.58	3.28	0.37604	.	0.243600	0.34411	N	0.003995	T	0.48768	0.1518	L	0.29908	0.895	0.30776	N	0.742524	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52351	-0.8587	10	0.87932	D	0	-11.9043	10.3065	0.43683	0.0:0.0:0.6272:0.3728	.	423;496	O75298-2;O75298	.;RTN2_HUMAN	W	423;496;156	ENSP00000345127:R423W;ENSP00000245923:R496W;ENSP00000398178:R156W	ENSP00000245923:R496W	R	-	1	2	2	RTN2	50683580	50683580	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.669000	0.25142	1.314000	0.45095	0.650000	0.86243	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-2.959838	1	0.170000	NM_005619			78	76		343	336	1		1	1		0	0	105	0		1	1	0	37	0	95	0	78	343
RTN2	6253	broad.mit.edu	37	19	45992145	45992145	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000245923.4	-	7	1576	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	RTN2_ENST00000344680.4_Silent_p.R374R|RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000430715.2_Silent_p.R107R|PPM1N_ENST00000401705.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	447	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGAAGAAGTGCCGCAGCTGCG	0.637																																						ENST00000245923.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999669	0.990000	1.000000																										0				20						c.(1339-1341)cgG>cgA		reticulon 2							26.0	24.0	25.0					19																	45992145		2203	4300	6503	SO:0001819	synonymous_variant	6253	0	0					g.chr19:45992145C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1341G>A	chr19.hg19:g.45992145C>T		0					RTN2_ENST00000430715.2_Silent_p.R107R|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000344680.4_Silent_p.R374R	p.R447R	NM_005619.4	NP_005610.1	1	2	3	2.010022	O75298	RTN2_HUMAN		7	1576	-		Ovarian(192;0.051)|all_neural(266;0.112)	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	0	1	hg19	c.1341G>A	CCDS12665.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_005619			14	14		58	55	1		1	1		0	0	11	0		9.998046e-01	9.999999e-01	0	54	0	111	0	14	58
RTN2	6253	broad.mit.edu	37	19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000245923.4	-	5	1236	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	RTN2_ENST00000344680.4_Intron|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	334					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTGAGAGGCTGGGGACACC	0.637																																						ENST00000245923.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1000-1002)aGc>aTc		reticulon 2							83.0	91.0	88.0					19																	45996450		2202	4294	6496	SO:0001583	missense	6253	0	0					g.chr19:45996450C>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1001G>T	chr19.hg19:g.45996450C>A	ENSP00000245923:p.Ser334Ile	0					RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000344680.4_Intron	p.S334I	NM_005619.4	NP_005610.1	1	2	3	2.010022	O75298	RTN2_HUMAN		5	1236	-		Ovarian(192;0.051)|all_neural(266;0.112)	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	1	1	hg19	c.1001G>T	CCDS12665.1	1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835262	0.71373	.	.	ENSG00000125744	ENST00000245923	T	0.48522	0.81	4.42	2.3	0.28687	4.42	2.3	0.28687	.	0.963263	0.08459	U	0.942690	T	0.29945	0.0749	N	0.08118	0	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.05338	-1.0891	10	0.21540	T	0.41	-2.4034	6.1929	0.20534	0.0:0.7722:0.0:0.2278	.	334	O75298	RTN2_HUMAN	I	334	ENSP00000245923:S334I	ENSP00000245923:S334I	S	-	2	0	0	RTN2	50688290	50688290	0.995000	0.38212	0.997000	0.53966	0.965000	0.64279	0.486000	0.22340	0.789000	0.33779	0.467000	0.42956	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1		18	2	2	0		0	1	208		208	203	1	2.060000	-20.000000	1	0.170000	NM_005619			184	184		899	885	1		1	1		0	0	208	0		1	9.994712e-01	0	8	0	46	0	184	899
RTN2	6253	broad.mit.edu	37	19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000245923.4	-	3	468	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_ENST00000344680.4_Missense_Mutation_p.R78H|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	78					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGAATCCCTGCGGCCCCCGGA	0.692																																						ENST00000245923.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(232-234)cGc>cAc		reticulon 2							17.0	22.0	21.0					19																	45998110		2202	4297	6499	SO:0001583	missense	6253	1	121210	30				g.chr19:45998110C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.233G>A	chr19.hg19:g.45998110C>T	ENSP00000245923:p.Arg78His	0					RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H	p.R78H	NM_005619.4	NP_005610.1	1	2	3	2.010022	O75298	RTN2_HUMAN		3	468	-		Ovarian(192;0.051)|all_neural(266;0.112)	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	1	1	hg19	c.233G>A	CCDS12665.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054978	0.55325	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.69040	-0.34;-0.37	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.276624	0.26605	N	0.023450	T	0.73877	0.3643	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.75855	-0.3170	10	0.66056	D	0.02	-16.8413	14.7561	0.69567	0.0:1.0:0.0:0.0	.	78;78	O75298-2;O75298	.;RTN2_HUMAN	H	78	ENSP00000345127:R78H;ENSP00000245923:R78H	ENSP00000245923:R78H	R	-	2	0	0	RTN2	50689950	50689950	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	2.970000	0.49240	2.561000	0.86390	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1		2	2	2	0		0	0	40		40	37	1	2.060000	-4.654481	1	0.170000	NM_005619			67	67		201	192	1		1	1		0	0	40	0		1	9.999909e-01	0	31	0	24	0	67	201
OPA3	80207	broad.mit.edu	37	19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	11					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622																																						ENST00000263275.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(31-33)Ctg>Atg		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							59.0	57.0	58.0					19																	46087992		2203	4300	6503	SO:0001583	missense	80207	0	0					g.chr19:46087992G>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.31C>A	chr19.hg19:g.46087992G>T	ENSP00000263275:p.Leu11Met	0					OPA3_ENST00000323060.3_Missense_Mutation_p.L11M|OPA3_ENST00000544371.1_Intron	p.L11M	NM_025136.3	NP_079412.1	1	2	3	2.010022	Q9H6K4	OPA3_HUMAN		1	85	-		Ovarian(192;0.051)|all_neural(266;0.112)	Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	1	1	hg19	c.31C>A	CCDS12668.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.323742	0.95708	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96565	0.9418	10	0.87932	D	0	0.0627	17.8364	0.88699	0.0:0.0:1.0:0.0	.	11;11	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	M	11	ENSP00000319817:L11M;ENSP00000263275:L11M	ENSP00000263275:L11M	L	-	1	2	2	OPA3	50779832	50779832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.884000	0.98904	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000				82	79		325	321	1		1	1		0	0	95	0		1	9.996533e-01	0	8	0	41	0	82	325
GPR4	2828	broad.mit.edu	37	19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	41					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCGGTAGGCCGCCCACAGAGC	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(121-123)gCg>gTg		G protein-coupled receptor 4							64.0	52.0	56.0					19																	46095003		2203	4300	6503	SO:0001583	missense	2828	0	0					g.chr19:46095003G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.122C>T	chr19.hg19:g.46095003G>A	ENSP00000319744:p.Ala41Val	0					GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	p.A41V	NM_005282.2	NP_005273.1	1	2	3	2.010022	P46093	GPR4_HUMAN		2	1066	-			A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	1	1	hg19	c.122C>T	CCDS12669.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877137	0.33162	.	.	ENSG00000177464	ENST00000323040	T	0.33216	1.42	5.11	5.11	0.69529	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.24353	0.0590	N	0.03999	-0.3	0.42852	D	0.994087	D	0.71674	0.998	P	0.58520	0.84	T	0.05022	-1.0911	10	0.02654	T	1	.	16.0194	0.80472	0.0:0.0:1.0:0.0	.	41	P46093	GPR4_HUMAN	V	41	ENSP00000319744:A41V	ENSP00000319744:A41V	A	-	2	0	0	GPR4	50786843	50786843	0.994000	0.37717	0.993000	0.49108	0.985000	0.73830	2.116000	0.41930	2.365000	0.80145	0.313000	0.20887	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.359559	1	0.170000	NM_005282			78	77		370	361	1		1	0		0	0	70	0		1	7.275072e-01	0	0	0	14	0	78	370
EML2	24139	broad.mit.edu	37	19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A	rs535561853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000245925.3	-	10	999	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	EML2_ENST00000536630.1_Missense_Mutation_p.R464W|EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Missense_Mutation_p.R518W	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13361	0.0		0.0	False		,,,				2504	0.0					ENST00000245925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(949-951)Cgg>Tgg		echinoderm microtubule associated protein like 2							45.0	47.0	46.0					19																	46124788		2203	4300	6503	SO:0001583	missense	24139	3	121406	33				g.chr19:46124788G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.949C>T	chr19.hg19:g.46124788G>A	ENSP00000245925:p.Arg317Trp	0					EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.R464W	p.R317W	NM_012155.2	NP_036287.1	1	2	3	2.010022	O95834	EMAL2_HUMAN		10	999	-		Ovarian(192;0.179)|all_neural(266;0.224)	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	1	1	hg19	c.949C>T	CCDS12670.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164803	0.57476	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.41758	0.99;0.99;4.95	3.2	0.782	0.18567	3.2	0.782	0.18567	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.138361	0.45361	D	0.000373	T	0.56441	0.1985	M	0.65975	2.015	0.36928	D	0.891741	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.971;0.985	T	0.59794	-0.7387	10	0.62326	D	0.03	-16.0349	8.6541	0.34053	0.0:0.0:0.4052:0.5948	.	317;483;464;317	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	W	464;317;475	ENSP00000442365:R464W;ENSP00000245925:R317W;ENSP00000382503:R475W	ENSP00000245925:R317W	R	-	1	2	2	EML2	50816628	50816628	0.012000	0.17670	0.965000	0.40720	0.891000	0.51852	0.382000	0.20635	0.042000	0.15717	0.195000	0.17529	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	1	0	1		2	2	2	0		0	0	67		67	62	1	2.060000	-20.000000	1	0.170000	NM_012155			92	90		353	334	1		1	1		0	0	67	0		1	1	0	25	0	110	0	92	353
EML2	24139	broad.mit.edu	37	19	46130084	46130084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	ENST00000245925.3	-	8	670	c.620C>A	c.(619-621)gCt>gAt	p.A207D	EML2_ENST00000536630.1_Missense_Mutation_p.A354D|EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Missense_Mutation_p.A408D	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	207	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CACCAATACAGCCTCATTGGA	0.582																																						ENST00000245925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(619-621)gCt>gAt		echinoderm microtubule associated protein like 2							36.0	32.0	33.0					19																	46130084		2203	4300	6503	SO:0001583	missense	24139	0	0					g.chr19:46130084G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.620C>A	chr19.hg19:g.46130084G>T	ENSP00000245925:p.Ala207Asp	0					EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.A354D	p.A207D	NM_012155.2	NP_036287.1	1	2	3	2.010022	O95834	EMAL2_HUMAN		8	670	-		Ovarian(192;0.179)|all_neural(266;0.224)	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	0	1	hg19	c.620C>A	CCDS12670.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285961	0.40394	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.26810	1.71;1.8;4.97	4.64	4.64	0.57946	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.181927	0.49305	D	0.000148	T	0.22399	0.0540	N	0.19112	0.55	0.38950	D	0.95832	P;P;B;B;P	0.47409	0.895;0.474;0.181;0.411;0.474	P;B;B;B;B	0.47626	0.552;0.13;0.036;0.075;0.13	T	0.03887	-1.0995	10	0.24483	T	0.36	-14.6841	15.0336	0.71728	0.0:0.0:1.0:0.0	.	207;373;354;365;207	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	D	354;207;408;365	ENSP00000442365:A354D;ENSP00000245925:A207D;ENSP00000382503:A365D	ENSP00000245925:A207D	A	-	2	0	0	EML2	50821924	50821924	1.000000	0.71417	0.943000	0.38184	0.351000	0.29236	7.224000	0.78042	2.397000	0.81536	0.557000	0.71058	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	0	0	1		2	2	2	0		0	0	34		34	31	1	2.060000	-20.000000	1	0.170000	NM_012155			36	36		150	145	0		1	1		0	0	34	0		1	1	0	49	0	72	0	36	150
QPCTL	54814	broad.mit.edu	37	19	46198779	46198779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46198779G>T	ENST00000012049.5	+	3	657	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	QPCTL_ENST00000366382.4_Intron|SNRPD2_ENST00000587579.1_5'Flank	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	146					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTGGGGCCAGTGGACTTTGG	0.622																																						ENST00000012049.5	1.000000	0.140000	3.400000e-01	1.900000e-01	0.250000	0.315782	0.250000	0.240000																										0				11						c.(436-438)Gtg>Ttg		glutaminyl-peptide cyclotransferase-like							124.0	114.0	117.0					19																	46198779		2203	4300	6503	SO:0001583	missense	54814	0	0					g.chr19:46198779G>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.436G>T	chr19.hg19:g.46198779G>T	ENSP00000012049:p.Val146Leu	0					QPCTL_ENST00000366382.4_Intron|SNRPD2_ENST00000587579.1_5'Flank	p.V146L	NM_017659.3	NP_060129.2	1	2	3	2.010022	Q9NXS2	QPCTL_HUMAN		3	657	+		Ovarian(192;0.051)|all_neural(266;0.112)	Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	0	1	hg19	c.436G>T	CCDS12672.1	0	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.368345	0.01225	.	.	ENSG00000011478	ENST00000012049	T	0.22743	1.94	4.72	-6.65	0.01795	4.72	-6.65	0.01795	.	0.339445	0.28077	N	0.016700	T	0.03739	0.0106	N	0.03268	-0.37	0.21627	N	0.999617	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.02654	T	1	-10.4789	0.09	0.00039	0.2793:0.1748:0.2162:0.3297	.	146	Q9NXS2	QPCTL_HUMAN	L	146	ENSP00000012049:V146L	ENSP00000012049:V146L	V	+	1	0	0	QPCTL	50890619	50890619	0.000000	0.05858	0.401000	0.26359	0.357000	0.29423	-0.645000	0.05409	-0.462000	0.06984	-1.248000	0.01517	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	0	0	1		20	3	2	1		1	1	136		136	133	1	2.060000	-3.102626	1	0.170000	NM_017659			17	16		812	798	0		0	0		1	0	136	0		3.461289e-01	1.409278e-01	0	1	0	58	0	17	812
QPCTL	54814	broad.mit.edu	37	19	46201906	46201906	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622																																						ENST00000012049.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(733-735)caG>caA		glutaminyl-peptide cyclotransferase-like							36.0	40.0	39.0					19																	46201906		2203	4300	6503	SO:0001819	synonymous_variant	54814	2	121412	35				g.chr19:46201906G>A	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.735G>A	chr19.hg19:g.46201906G>A		0					QPCTL_ENST00000366382.4_Silent_p.Q151Q	p.Q245Q	NM_017659.3	NP_060129.2	1	2	3	2.010022	Q9NXS2	QPCTL_HUMAN		4	956	+		Ovarian(192;0.051)|all_neural(266;0.112)	Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	1	1	hg19	c.735G>A	CCDS12672.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_017659			44	43		219	216	1		1	1		0	0	43	0		1	9.999938e-01	0	30	0	63	0	44	219
FBXO46	23403	broad.mit.edu	37	19	46216211	46216211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	181										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711																																						ENST00000317683.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				15						c.(541-543)caG>caA		F-box protein 46							9.0	12.0	11.0					19																	46216211		2003	4132	6135	SO:0001819	synonymous_variant	23403	0	0					g.chr19:46216211C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.543G>A	chr19.hg19:g.46216211C>T		0						p.Q181Q	NM_001080469.1	NP_001073938.1	1	2	3	2.010022	Q6PJ61	FBX46_HUMAN		2	676	-		Ovarian(192;0.179)|all_neural(266;0.224)		Silent	SNP	ENST00000317683.3	0	1	hg19	c.543G>A	CCDS46116.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	XM_371179			15	15		59	59	1		1	1		0	0	11	0		9.999308e-01	9.957395e-01	0	12	0	28	0	15	59
SIX5	147912	broad.mit.edu	37	19	46271482	46271482	+	Silent	SNP	G	G	A	rs544606444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	AC074212.6_ENST00000586251.1_RNA|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	207					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687																																						ENST00000317578.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999079	0.990000	1.000000																										0				8						c.(619-621)tgC>tgT		SIX homeobox 5							36.0	33.0	34.0					19																	46271482		2203	4300	6503	SO:0001819	synonymous_variant	147912	0	0					g.chr19:46271482G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.621C>T	chr19.hg19:g.46271482G>A		0					AC074212.5_ENST00000559756.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	p.C207C	NM_175875.4	NP_787071	1	2	3	2.010022	Q8N196	SIX5_HUMAN		1	1002	-		Ovarian(192;0.0308)|all_neural(266;0.112)		Silent	SNP	ENST00000317578.6	0	1	hg19	c.621C>T	CCDS12673.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_175875			17	15		95	94	0		1	1		0	0	27	0		9.999729e-01	6.571586e-01	0	3	0	11	0	17	95
DMPK	1760	broad.mit.edu	37	19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000291270.4	-	10	1397	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	AC074212.6_ENST00000586251.1_RNA|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	424					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000291270.4	1.000000	0.350000	9.400000e-01	4.900000e-01	0.670000	0.696375	0.670000	1.000000																										0				16						c.(1270-1272)gaG>gaT		dystrophia myotonica-protein kinase							44.0	45.0	45.0					19																	46275971		2203	4300	6503	SO:0001583	missense	1760	0	0					g.chr19:46275971C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1272G>T	chr19.hg19:g.46275971C>A	ENSP00000291270:p.Glu424Asp	0					DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000595361.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000590076.1_RNA	p.E424D	NM_004409.3	NP_004400.4	1	2	3	2.010022	Q09013	DMPK_HUMAN		10	1397	-		Ovarian(192;0.0308)|all_neural(266;0.112)	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	1	1	hg19	c.1272G>T	CCDS12674.1	0	.	.	.	.	.	.	.	.	.	.	c	16.24	3.066487	0.55539	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67523	-0.27;-0.25;-0.27;-0.26;-0.2	3.87	3.87	0.44632	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.43747	D	0.000539	T	0.69771	0.3148	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D	0.76494	0.916;0.734;0.907;0.816;0.615;0.849;0.993;0.999	P;B;P;B;B;B;P;P	0.60415	0.631;0.391;0.59;0.311;0.219;0.386;0.864;0.874	T	0.67898	-0.5551	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	419;424;450;419;419;424;466;434	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	419;450;424;419;419;434;434;419	ENSP00000401753:E419D;ENSP00000291270:E424D;ENSP00000413417:E419D;ENSP00000345997:E434D;ENSP00000346168:E419D	ENSP00000291270:E424D	E	-	3	2	2	DMPK	50967811	50967811	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	3.471000	0.53107	2.157000	0.67596	0.561000	0.74099	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-13.941050	1	0.170000	NM_004409			11	11		193	187	0		1	1		0	0	24	0		9.981442e-01	9.306267e-01	0	9	0	75	0	11	193
DMPK	1760	broad.mit.edu	37	19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000291270.4	-	8	1146	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	DMPK_ENST00000600757.1_Missense_Mutation_p.G351S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	341	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000291270.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1021-1023)Ggc>Agc		dystrophia myotonica-protein kinase							55.0	49.0	51.0					19																	46280710		2203	4300	6503	SO:0001583	missense	1760	0	0					g.chr19:46280710C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1021G>A	chr19.hg19:g.46280710C>T	ENSP00000291270:p.Gly341Ser	0					DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.G351S	p.G341S	NM_004409.3	NP_004400.4	1	2	3	2.010022	Q09013	DMPK_HUMAN		8	1146	-		Ovarian(192;0.0308)|all_neural(266;0.112)	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	1	1	hg19	c.1021G>A	CCDS12674.1	1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.522874	0.85600	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.63	4.63	0.57726	4.63	4.63	0.57726	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	0.47093	D	0.000255	T	0.46889	0.1416	N	0.12471	0.22	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	0.97110	0.993;0.999;0.999;0.998;0.998;1.0;0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	15.3423	0.74306	0.0:1.0:0.0:0.0	.	341;341;367;341;341;341;388;351	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	341;367;341;341;341;351;351;341	ENSP00000401753:G341S;ENSP00000291270:G341S;ENSP00000413417:G341S;ENSP00000345997:G351S;ENSP00000346168:G341S	ENSP00000291270:G341S	G	-	1	0	0	DMPK	50972550	50972550	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.569000	0.60865	2.554000	0.86153	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000	NM_004409			55	55		310	307	1		1	1		0	0	72	0		1	9.956130e-01	0	3	0	46	0	55	310
DMPK	1760	broad.mit.edu	37	19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A	rs369279468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000291270.4	-	6	745	c.620G>T	c.(619-621)gGc>gTc	p.G207V	DMPK_ENST00000600757.1_Missense_Mutation_p.G217V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000291270.4	1.000000	0.660000	1	9.100000e-01	0.990000	0.961392	0.990000	1.000000																										0				16						c.(619-621)gGc>gTc		dystrophia myotonica-protein kinase							71.0	51.0	58.0					19																	46281440		2203	4300	6503	SO:0001583	missense	1760	0	0					g.chr19:46281440C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.620G>T	chr19.hg19:g.46281440C>A	ENSP00000291270:p.Gly207Val	0					DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.G217V	p.G207V	NM_004409.3	NP_004400.4	1	2	3	2.010022	Q09013	DMPK_HUMAN		6	745	-		Ovarian(192;0.0308)|all_neural(266;0.112)	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	1	1	hg19	c.620G>T	CCDS12674.1	1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931895	0.92389	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.53	4.53	0.55603	4.53	4.53	0.55603	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	0.42294	D	0.000722	T	0.75803	0.3899	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.83025	-0.0165	10	0.87932	D	0	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	207;207;233;207;207;207;254;217	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	V	207;233;207;207;207;217;217;207	ENSP00000401753:G207V;ENSP00000291270:G207V;ENSP00000413417:G207V;ENSP00000345997:G217V;ENSP00000346168:G207V	ENSP00000291270:G207V	G	-	2	0	0	DMPK	50973280	50973280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.564000	0.82326	2.330000	0.79161	0.650000	0.86243	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1		2	2	2	0		0	0	30		30	28	1	2.060000	-17.274930	1	0.170000	NM_004409			11	11		98	97	1		1	1		0	0	30	0		9.985488e-01	9.864763e-01	0	18	0	51	0	11	98
DMPK	1760	broad.mit.edu	37	19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	rs145501208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000291270.4	-	5	564	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	DMPK_ENST00000600757.1_Missense_Mutation_p.V157F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000291270.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999777	0.990000	1.000000																										0				16						c.(439-441)Gtc>Ttc		dystrophia myotonica-protein kinase							53.0	47.0	49.0					19																	46281893		2203	4300	6503	SO:0001583	missense	1760	0	0					g.chr19:46281893C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.439G>T	chr19.hg19:g.46281893C>A	ENSP00000291270:p.Val147Phe	0					DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.V157F	p.V147F	NM_004409.3	NP_004400.4	1	2	3	2.010022	Q09013	DMPK_HUMAN		5	564	-		Ovarian(192;0.0308)|all_neural(266;0.112)	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	1	1	hg19	c.439G>T	CCDS12674.1	1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591925	0.86953	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.84	3.81	0.43845	4.84	3.81	0.43845	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	0.38164	N	0.001799	T	0.72676	0.3490	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.995;0.983;0.983;0.984;0.984;0.99;0.985;0.996	T	0.76553	-0.2917	10	0.87932	D	0	.	10.7964	0.46464	0.0:0.907:0.0:0.093	.	147;147;173;147;147;147;194;157	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	F	147;173;147;147;147;157;157;147	ENSP00000401753:V147F;ENSP00000291270:V147F;ENSP00000413417:V147F;ENSP00000345997:V157F;ENSP00000346168:V147F	ENSP00000291270:V147F	V	-	1	0	0	DMPK	50973733	50973733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.663000	0.61532	1.265000	0.44215	0.561000	0.74099	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-4.136101	1	0.170000	NM_004409			24	24		136	136	1		1	1		0	0	36	0		9.999998e-01	9.956101e-01	0	10	0	42	0	24	136
SYMPK	8189	broad.mit.edu	37	19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1096					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657																																						ENST00000245934.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				45						c.(3286-3288)aCc>aTc		symplekin							38.0	41.0	40.0					19																	46319807		2203	4300	6503	SO:0001583	missense	8189	0	0					g.chr19:46319807G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3287C>T	chr19.hg19:g.46319807G>A	ENSP00000245934:p.Thr1096Ile	0					RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	p.T1096I	NM_004819.2	NP_004810.2	1	2	3	2.010022	Q92797	SYMPK_HUMAN		25	3531	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	1	1	hg19	c.3287C>T	CCDS12676.2	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655826	0.47467	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	4.4	4.4	0.53042	.	0.469052	0.22944	N	0.053758	T	0.40979	0.1139	N	0.14661	0.345	0.39075	D	0.960784	B	0.02656	0.0	B	0.10450	0.005	T	0.42865	-0.9426	9	0.66056	D	0.02	.	12.387	0.55338	0.0:0.0:1.0:0.0	.	1096	Q92797	SYMPK_HUMAN	I	1096	.	ENSP00000245934:T1096I	T	-	2	0	0	SYMPK	51011647	51011647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.164000	0.58190	2.287000	0.76781	0.555000	0.69702	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_004819			40	40		205	203	1		1	1		0	0	42	0		1	1	0	41	0	169	0	40	205
SYMPK	8189	broad.mit.edu	37	19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	rs146919889	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	636					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17774	0.0		0.0	False		,,,				2504	0.0					ENST00000245934.7	1.000000	0.850000	1	9.800000e-01	0.990000	0.987352	0.990000	1.000000																										0				45						c.(1906-1908)tCg>tTg		symplekin							70.0	69.0	69.0					19																	46332306		2203	4300	6503	SO:0001583	missense	8189	5	121410	39				g.chr19:46332306G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1907C>T	chr19.hg19:g.46332306G>A	ENSP00000245934:p.Ser636Leu	0					AC092301.3_ENST00000601618.1_RNA	p.S636L	NM_004819.2	NP_004810.2	1	2	3	2.010022	Q92797	SYMPK_HUMAN		14	2151	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	1	1	hg19	c.1907C>T	CCDS12676.2	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.176	1.022306	0.19433	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	3.89	0.44902	4.94	3.89	0.44902	Armadillo-type fold (1);	0.507425	0.20457	N	0.091966	T	0.28001	0.0690	M	0.65498	2.005	0.20638	N	0.999872	B;B	0.32862	0.138;0.387	B;B	0.19391	0.009;0.025	T	0.12451	-1.0547	9	0.27785	T	0.31	.	10.702	0.45933	0.0:0.0:0.8091:0.1909	.	651;636	Q4LE61;Q92797	.;SYMPK_HUMAN	L	636	.	ENSP00000245934:S636L	S	-	2	0	0	SYMPK	51024146	51024146	0.291000	0.24352	0.062000	0.19696	0.120000	0.20174	3.211000	0.51137	1.081000	0.41110	0.456000	0.33151	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.142702	1	0.170000	NM_004819			53	52		508	500	0		1	1		0	0	93	0		1	9.999929e-01	0	19	0	145	0	53	508
SYMPK	8189	broad.mit.edu	37	19	46341750	46341750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	ENST00000245934.7	-	10	1455	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	404					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGTCAGCAGAGGCTGCAGGAA	0.602																																						ENST00000245934.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				45						c.(1210-1212)cCt>cAt		symplekin							69.0	53.0	59.0					19																	46341750		2203	4300	6503	SO:0001583	missense	8189	0	0					g.chr19:46341750G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1211C>A	chr19.hg19:g.46341750G>T	ENSP00000245934:p.Pro404His	0						p.P404H	NM_004819.2	NP_004810.2	1	2	3	2.010022	Q92797	SYMPK_HUMAN		10	1455	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	0	1	hg19	c.1211C>A	CCDS12676.2	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012652	0.75161	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	Armadillo-type fold (1);	0.057465	0.64402	D	0.000001	T	0.66157	0.2761	M	0.61703	1.905	0.80722	D	1	P;P	0.51240	0.943;0.612	P;B	0.50617	0.646;0.417	T	0.65809	-0.6078	9	0.45353	T	0.12	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	419;404	Q4LE61;Q92797	.;SYMPK_HUMAN	H	404	.	ENSP00000245934:P404H	P	-	2	0	0	SYMPK	51033590	51033590	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.615000	0.90920	2.729000	0.93468	0.558000	0.71614	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	0	0	1		12	16	2	1		1	1	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_004819			22	21		99	98	0		1	1		1	0	34	0		9.755400e-01	9.876014e-01	0	66	0	100	0	22	99
SYMPK	8189	broad.mit.edu	37	19	46345746	46345746	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	283					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557																																						ENST00000245934.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(847-849)gcC>gcT		symplekin							55.0	56.0	56.0					19																	46345746		2203	4300	6503	SO:0001630	splice_region_variant	8189	0	0					g.chr19:46345746G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.848-1C>T	chr19.hg19:g.46345746G>A		0						p.A283A	NM_004819.2	NP_004810.2	1	2	3	2.010022	Q92797	SYMPK_HUMAN		9	1093	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	1	0	hg19	c.849C>T	CCDS12676.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000	NM_004819	Silent		74	72		358	345	1		1	1		0	0	67	0		1	1	0	52	0	181	0	74	358
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582																																						ENST00000245934.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(580-582)Ctg>Atg		symplekin							111.0	92.0	98.0					19																	46351106		2203	4300	6503	SO:0001583	missense	8189	1	121412	27				g.chr19:46351106G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.580C>A	chr19.hg19:g.46351106G>T	ENSP00000245934:p.Leu194Met	0						p.L194M	NM_004819.2	NP_004810.2	1	2	3	2.010022	Q92797	SYMPK_HUMAN		7	824	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	1	1	hg19	c.580C>A	CCDS12676.2	1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	2	SYMPK	51042946	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.301032	1	0.170000	NM_004819			40	41		191	186	1		1	1		0	0	62	0		1	1	0	45	0	106	0	40	191
FOXA3	3171	broad.mit.edu	37	19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A	rs377404065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	328					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGGGGCTACGGGGCTGAAGG	0.562																																						ENST00000302177.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				13						c.(982-984)Ggg>Agg		forkhead box A3		G	ARG/GLY	0,4404		0,0,2202	36.0	32.0	34.0		982	4.5	0.7	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXA3	NM_004497.2	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/351	46376245	1,13003	2202	4300	6502	SO:0001583	missense	3171	2	121412	34				g.chr19:46376245G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.982G>A	chr19.hg19:g.46376245G>A	ENSP00000304004:p.Gly328Arg	0						p.G328R	NM_004497.2	NP_004488.2	1	2	3	2.010022	P55318	FOXA3_HUMAN		2	1179	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	1	1	hg19	c.982G>A	CCDS12677.1	1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922531	0.52653	0.0	1.16E-4	ENSG00000170608	ENST00000302177	D	0.91894	-2.93	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.524241	0.19272	N	0.118370	D	0.94450	0.8214	L	0.52573	1.65	0.44462	D	0.99739	D	0.89917	1.0	D	0.80764	0.994	D	0.94693	0.7876	10	0.87932	D	0	.	15.1292	0.72507	0.0:0.0:1.0:0.0	.	328	P55318	FOXA3_HUMAN	R	328	ENSP00000304004:G328R	ENSP00000304004:G328R	G	+	1	0	0	FOXA3	51068085	51068085	1.000000	0.71417	0.672000	0.29872	0.456000	0.32438	3.948000	0.56660	2.502000	0.84385	0.579000	0.79373	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.327670	1	0.170000				23	23		112	108	1		1	1		0	0	28	0		9.999996e-01	8.874606e-01	0	18	0	3	0	23	112
IRF2BP1	26145	broad.mit.edu	37	19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731																																						ENST00000302165.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(7-9)tCt>tAt		interferon regulatory factor 2 binding protein 1							12.0	11.0	11.0					19																	46389025		2159	4240	6399	SO:0001583	missense	26145	0	0					g.chr19:46389025G>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.8C>A	chr19.hg19:g.46389025G>T	ENSP00000307265:p.Ser3Tyr	0						p.S3Y	NM_015649.1	NP_056464.1	1	2	3	2.010022	Q8IU81	I2BP1_HUMAN		1	351	-		all_neural(266;0.113)|Ovarian(192;0.127)	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	1	1	hg19	c.8C>A	CCDS12678.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558266	0.65538	.	.	ENSG00000170604	ENST00000302165	T	0.48836	0.8	3.41	1.19	0.21007	3.41	1.19	0.21007	.	0.119053	0.36034	U	0.002838	T	0.42988	0.1227	N	0.22421	0.69	0.41761	D	0.989712	D	0.69078	0.997	P	0.59221	0.854	T	0.34675	-0.9819	10	0.62326	D	0.03	.	5.916	0.19055	0.2537:0.0:0.7463:0.0	.	3	Q8IU81	I2BP1_HUMAN	Y	3	ENSP00000307265:S3Y	ENSP00000307265:S3Y	S	-	2	0	0	IRF2BP1	51080865	51080865	1.000000	0.71417	0.292000	0.24919	0.980000	0.70556	6.545000	0.73883	0.260000	0.21731	0.462000	0.41574	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_015649			24	24		56	55	0		1	1		0	0	17	0		9.999999e-01	9.841053e-01	0	4	0	15	0	24	56
MYPOP	339344	broad.mit.edu	37	19	46404623	46404623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	ENST00000322217.5	-	2	495	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					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 negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGCCGCAGGGGGCTCCTCC	0.711																																						ENST00000322217.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999534	0.990000	1.000000																										0				4						c.(409-411)Cct>Tct		Myb-related transcription factor, partner of profilin							4.0	6.0	5.0					19																	46404623		1949	3842	5791	SO:0001583	missense	339344	0	0					g.chr19:46404623G>A	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.409C>T	chr19.hg19:g.46404623G>A	ENSP00000325402:p.Pro137Ser	0						p.P137S	NM_001012643.2	NP_001012661.1	1	2	3	2.010022	Q86VE0	MYPOP_HUMAN		2	495	-				Missense_Mutation	SNP	ENST00000322217.5	0	1	hg19	c.409C>T	CCDS33055.1	1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917012	0.17907	.	.	ENSG00000176182	ENST00000322217	T	0.42513	0.97	4.58	-0.437	0.12272	4.58	-0.437	0.12272	.	0.790677	0.10333	N	0.687286	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.07325	T	0.83	0.0021	4.0573	0.09823	0.3018:0.1732:0.5251:0.0	.	137	Q86VE0	MYPOP_HUMAN	S	137	ENSP00000325402:P137S	ENSP00000325402:P137S	P	-	1	0	0	MYPOP	51096463	51096463	0.002000	0.14202	0.441000	0.26858	0.933000	0.57130	0.225000	0.17757	0.060000	0.16281	0.462000	0.41574	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_001012643			10	10		29	28	0		1	1		0	0	9	0		9.978486e-01	6.543452e-01	0	5	0	3	0	10	29
NOVA2	4858	broad.mit.edu	37	19	46443145	46443145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	485					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)		GGGGGTTTGAGGCCCTCACTC	0.647																																						ENST00000263257.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1453-1455)gcC>gcT		neuro-oncological ventral antigen 2							43.0	46.0	45.0					19																	46443145		2203	4300	6503	SO:0001819	synonymous_variant	4858	0	0					g.chr19:46443145G>A	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.1455C>T	chr19.hg19:g.46443145G>A		0						p.A485A	NM_002516.2	NP_002507.1	1	2	3	2.010022	Q9UNW9	NOVA2_HUMAN		4	1649	-		all_neural(266;0.113)|Ovarian(192;0.127)	O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	1	1	hg19	c.1455C>T	CCDS12679.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_002516			64	63		264	253	1		1	0		0	0	59	0		1	4.843350e-01	0	0	0	8	0	64	264
IGFL3	388555	broad.mit.edu	37	19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	82						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTCGGGACAGCAGAGCTCAA	0.532																																						ENST00000341415.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(244-246)tgC>tgA		IGF-like family member 3							91.0	113.0	106.0					19																	46627247		2185	4300	6485	SO:0001587	stop_gained	388555	0	0					g.chr19:46627247G>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.246C>A	chr19.hg19:g.46627247G>T	ENSP00000344860:p.Cys82*	0					AC007193.6_ENST00000597989.1_lincRNA	p.C82*	NM_207393.1	NP_997276.1	1	2	3	2.010022	Q6UXB1	IGFL3_HUMAN		3	270	-		Ovarian(192;0.0175)|all_neural(266;0.0476)		Nonsense_Mutation	SNP	ENST00000341415.2	0	1	hg19	c.246C>A	CCDS33058.1	1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745593	0.49151	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.65	1.65	0.23941	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2435	6.749	0.23477	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000344860:C82X	C	-	3	2	2	IGFL3	51319087	51319087	0.984000	0.35163	0.825000	0.32803	0.111000	0.19643	1.977000	0.40589	1.217000	0.43442	0.411000	0.27672	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	1	0	1		2	2	2	0		0	0	190		190	186	1	2.060000	-20.000000	1	0.170000	NM_207393			212	208		823	806	1		1	0		0	0	190	0		1	4.372504e-01	0	0	0	7	0	212	823
DPP9	91039	broad.mit.edu	37	19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000598800.1	-	15	1957	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	DPP9_ENST00000262960.9_Missense_Mutation_p.K513N|DPP9_ENST00000594671.1_Missense_Mutation_p.K484N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	484						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557																																						ENST00000598800.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999703	0.990000	1.000000																										0				20						c.(1450-1452)aaG>aaT		dipeptidyl-peptidase 9							60.0	62.0	61.0					19																	4690947		1963	4154	6117	SO:0001583	missense	91039	0	0					g.chr19:4690947C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1452G>T	chr19.hg19:g.4690947C>A	ENSP00000469603:p.Lys484Asn	0					DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000262960.9_Missense_Mutation_p.K513N	p.K484N			1	2	3	2.010022	Q86TI2	DPP9_HUMAN		15	1957	-		Hepatocellular(1079;0.137)	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	1	1	hg19	c.1452G>T		1	.	.	.	.	.	.	.	.	.	.	C	6.528	0.465689	0.12402	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30448	1.53	4.39	2.15	0.27550	4.39	2.15	0.27550	.	0.166608	0.51477	D	0.000082	T	0.27278	0.0669	M	0.65975	2.015	0.52501	D	0.99995	B	0.20459	0.045	B	0.26614	0.071	T	0.07520	-1.0768	10	0.30078	T	0.28	-23.8297	4.6523	0.12601	0.0:0.6645:0.0:0.3355	.	513	Q1ZZB8	.	N	592;454;513	ENSP00000262960:K513N	ENSP00000262960:K513N	K	-	3	2	2	DPP9	4641947	4641947	0.999000	0.42202	1.000000	0.80357	0.285000	0.27093	0.716000	0.25836	1.086000	0.41228	-0.263000	0.10527	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.468788	1	0.170000				15	14		65	62	1		1	1		0	0	36	0		9.998905e-01	9.999999e-01	0	35	0	128	0	15	65
HIF3A	64344	broad.mit.edu	37	19	46811543	46811543	+	Silent	SNP	C	C	T	rs373645502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000377670.4	+	4	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_ENST00000472815.1_Silent_p.D74D|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Silent_p.D92D	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			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)		AGCTTCAGGACGCCCTGACCC	0.607																																						ENST00000377670.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(427-429)gaC>gaT		hypoxia inducible factor 3, alpha subunit		C	,,,	2,4404	4.2+/-10.8	0,2,2201	126.0	114.0	118.0		222,423,429,222	-7.6	0.8	19		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	74/601,141/668,143/670,74/451	46811543	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64344	7	121412	41				g.chr19:46811543C>T	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.429C>T	chr19.hg19:g.46811543C>T		0					HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D	p.D143D	NM_152795.3	NP_690008.2	1	2	3	2.010022	Q9Y2N7	HIF3A_HUMAN		4	460	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	1	1	hg19	c.429C>T	CCDS12681.2	1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630319	0.14257	4.54E-4	0.0	ENSG00000124440	ENST00000472815	.	.	.	3.86	-7.63	0.01290	3.86	-7.63	0.01290	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	.	10.3415	0.43882	0.0:0.1631:0.1122:0.7247	.	.	.	.	C	116	.	.	R	+	1	0	0	HIF3A	51503383	51503383	0.000000	0.05858	0.823000	0.32752	0.993000	0.82548	-5.642000	0.00107	-1.573000	0.01659	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				100	97		475	461	1		1	1		0	0	110	0		1	9.361921e-01	0	6	0	18	0	100	475
CCDC8	83987	broad.mit.edu	37	19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	57					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642																																						ENST00000307522.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(169-171)cGc>cAc		coiled-coil domain containing 8							45.0	50.0	48.0					19																	46915898		2203	4300	6503	SO:0001583	missense	83987	1	121412	32				g.chr19:46915898C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.170G>A	chr19.hg19:g.46915898C>T	ENSP00000303158:p.Arg57His	0						p.R57H	NM_032040.4	NP_114429.2	1	2	3	2.010022	Q9H0W5	CCDC8_HUMAN		1	943	-			Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	1	1	hg19	c.170G>A	CCDS12685.1	1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460660	0.63513	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.14022	2.54	4.42	2.31	0.28768	4.42	2.31	0.28768	.	0.000000	0.40908	D	0.000990	T	0.10508	0.0257	M	0.64997	1.995	0.09310	N	0.999998	P	0.51653	0.947	B	0.35813	0.211	T	0.26985	-1.0087	10	0.37606	T	0.19	-7.8103	6.0197	0.19623	0.0:0.7715:0.0:0.2285	.	57	Q9H0W5	CCDC8_HUMAN	H	57	ENSP00000303158:R57H	ENSP00000303158:R57H	R	-	2	0	0	CCDC8	51607738	51607738	0.996000	0.38824	0.406000	0.26421	0.959000	0.62525	1.658000	0.37376	1.164000	0.42652	-0.237000	0.12165	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.247211	1	0.170000	NM_032040			79	75		385	380	1		1	0		0	0	79	0		1	9.999109e-01	0	0	0	68	0	79	385
PNMAL1	55228	broad.mit.edu	37	19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V|PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	51										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)		gcggtacgggcccagtgggga	0.542																																						ENST00000313683.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				25						c.(151-153)gGc>gTc		paraneoplastic Ma antigen family-like 1							72.0	59.0	64.0					19																	46974141		2203	4300	6503	SO:0001583	missense	55228	0	0					g.chr19:46974141C>A	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.152G>T	chr19.hg19:g.46974141C>A	ENSP00000318131:p.Gly51Val	0					PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	1	2	3	2.010022	Q86V59	PNML1_HUMAN		2	457	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	1	1	hg19	c.152G>T	CCDS33059.1	1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529399	0.64860	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15256	2.44;2.44	3.8	3.8	0.43715	3.8	3.8	0.43715	.	0.000000	0.41605	D	0.000845	T	0.39172	0.1068	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17623	-1.0363	10	0.56958	D	0.05	-13.2325	11.4785	0.50312	0.0:1.0:0.0:0.0	.	51;51	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	51	ENSP00000410273:G51V;ENSP00000318131:G51V	ENSP00000318131:G51V	G	-	2	0	0	PNMAL1	51665981	51665981	0.999000	0.42202	0.933000	0.37362	0.704000	0.40688	3.328000	0.52052	2.421000	0.82119	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_018215			34	32		204	197	1		1	0		0	0	51	0		1	7.506735e-01	0	0	0	18	0	34	204
PNMAL2	57469	broad.mit.edu	37	19	46998046	46998046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998046G>A	ENST00000377655.2	-	1	676	c.677C>T	c.(676-678)aCg>aTg	p.T226M	PNMAL2_ENST00000599531.1_Missense_Mutation_p.T226M|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	226										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)		GGCCTGCAGCGTGGCGTACAG	0.667																																						ENST00000377655.2	1.000000	0.260000	9.100000e-01	4.000000e-01	0.600000	0.635714	0.600000	1.000000																										0				8						c.(676-678)aCg>aTg		paraneoplastic Ma antigen family-like 2							40.0	35.0	37.0					19																	46998046		2203	4300	6503	SO:0001583	missense	57469	0	0					g.chr19:46998046G>A	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.677C>T	chr19.hg19:g.46998046G>A	ENSP00000366883:p.Thr226Met	0					PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.T226M|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M	p.T226M			1	2	3	2.010022	Q9ULN7	PNML2_HUMAN		1	676	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	1	1	hg19	c.677C>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.567606|2.567606	0.45694|0.45694	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.27104|.	1.69|.	2.06|2.06	0.988|0.988	0.19796|0.19796	2.06|2.06	0.988|0.988	0.19796|0.19796	.|.	.|.	.|.	.|.	.|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|D	0.40681|0.65815	0.727|0.995	B|P	0.24269|0.47786	0.052|0.557	T|T	0.11179|0.11179	-1.0598|-1.0598	9|8	0.56958|0.87932	D|D	0.05|0	-8.9284|-8.9284	4.7389|4.7389	0.13003|0.13003	0.1903:0.0:0.8097:0.0|0.1903:0.0:0.8097:0.0	.|.	226|53	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	M|M	226|53	ENSP00000366883:T226M|.	ENSP00000366883:T226M|ENSP00000366880:V53M	T|V	-|+	2|1	0|0	0|0	PNMAL2|AC011484.1	51689886|51689886	51689886|51689886	0.016000|0.016000	0.18221|0.18221	0.002000|0.002000	0.10522|0.10522	0.221000|0.221000	0.24807|0.24807	0.638000|0.638000	0.24674|0.24674	0.409000|0.409000	0.25649|0.25649	0.491000|0.491000	0.48974|0.48974	ACG|GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-10.766520	1	0.170000	NM_020709			7	7		142	138	0		1	0		0	0	35	0		9.794949e-01	8.348837e-02	0	0	0	9	0	7	142
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000377655.2	-	1	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PNMAL2_ENST00000599531.1_Missense_Mutation_p.A119V|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										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)		CCCAGCCTCCGCGGCCTGCGT	0.692																																						ENST00000377655.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(355-357)gCg>gTg		paraneoplastic Ma antigen family-like 2							56.0	62.0	60.0					19																	46998367		2203	4299	6502	SO:0001583	missense	57469	0	0					g.chr19:46998367G>A	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.356C>T	chr19.hg19:g.46998367G>A	ENSP00000366883:p.Ala119Val	0					PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T	p.A119V			1	2	3	2.010022	Q9ULN7	PNML2_HUMAN		1	355	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	1	1	hg19	c.356C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640729|1.640729	0.29157|0.29157	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.10005	.|2.92	1.55|1.55	0.391|0.391	0.16282|0.16282	1.55|1.55	0.391|0.391	0.16282|0.16282	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.54601|0.44478	0.967|0.836	B|B	0.31016|0.26310	0.123|0.068	T|T	0.38650|0.38650	-0.9651|-0.9651	8|9	0.87932|0.59425	D|D	0|0.04	-5.9318|-5.9318	4.7488|4.7488	0.13050|0.13050	0.0:0.0:0.5568:0.4432|0.0:0.0:0.5568:0.4432	.|.	160|119	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	T|V	160|119	.|ENSP00000366883:A119V	ENSP00000366880:A160T|ENSP00000366883:A119V	A|A	+|-	1|2	0|0	0|0	AC011484.1|PNMAL2	51690207|51690207	51690207|51690207	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.596000|0.596000	0.24044|0.24044	0.136000|0.136000	0.18733|0.18733	0.462000|0.462000	0.41574|0.41574	GCG|GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	131		131	128	1	2.060000	-20.000000	1	0.170000	NM_020709			159	154		596	587	1		1	0		0	0	131	0		1	7.074676e-01	0	0	0	11	0	159	596
PRKD2	25865	broad.mit.edu	37	19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000291281.4	-	17	2606	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTGTAGCGTTTGCGCATCTT	0.567																																						ENST00000291281.4	1.000000	0.600000	1	8.800000e-01	0.990000	0.952402	0.990000	1.000000																										0				41						c.(2380-2382)aAa>aCa		protein kinase D2							98.0	66.0	77.0					19																	47178333		2203	4300	6503	SO:0001583	missense	25865	0	0					g.chr19:47178333T>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2381A>C	chr19.hg19:g.47178333T>G	ENSP00000291281:p.Lys794Thr	0					PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525008.1_RNA	p.K794T			1	2	3	2.010022	Q9BZL6	KPCD2_HUMAN		17	2606	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	1	1	hg19	c.2381A>C	CCDS12689.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.184267	0.94885	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.53780	1.695	0.80722	D	1	D;P;D	0.55800	0.973;0.645;0.965	P;B;P	0.62014	0.837;0.271;0.897	T	0.78994	-0.1984	10	0.87932	D	0	-45.8839	14.6862	0.69052	0.0:0.0:0.0:1.0	.	804;279;794	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	794	ENSP00000291281:K794T;ENSP00000393978:K794T	ENSP00000291281:K794T	K	-	2	0	0	PRKD2	51870173	51870173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.169000	0.68431	0.533000	0.62120	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-14.281300	1	0.170000	NM_016457			8	8		70	66	1		1	1		0	0	22	0		9.883784e-01	9.999986e-01	0	106	0	243	0	8	70
PRKD2	25865	broad.mit.edu	37	19	47194999	47194999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000291281.4	-	12	1920	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000601806.1_Silent_p.V408V|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.V565V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCTCCATAGACCACTCCAA	0.587																																						ENST00000291281.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1693-1695)gtC>gtA		protein kinase D2							89.0	87.0	88.0					19																	47194999		2203	4300	6503	SO:0001819	synonymous_variant	25865	0	0					g.chr19:47194999G>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1695C>A	chr19.hg19:g.47194999G>T		0					PRKD2_ENST00000595515.1_Silent_p.V565V|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.V565V|PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V	p.V565V			1	2	3	2.010022	Q9BZL6	KPCD2_HUMAN		12	1920	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	1	1	hg19	c.1695C>A	CCDS12689.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1		2	2	2	0		0	0	119		119	117	1	2.060000	-20.000000	1	0.170000	NM_016457			73	70		388	375	1		1	1		0	0	119	0		1	1	0	92	0	164	0	73	388
PRKD2	25865	broad.mit.edu	37	19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000291281.4	-	10	1732	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCGGATGGCTGTCTCCCAG	0.697																																						ENST00000291281.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1507-1509)Gcc>Acc		protein kinase D2							48.0	48.0	48.0					19																	47197201		2203	4298	6501	SO:0001583	missense	25865	0	0					g.chr19:47197201C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1507G>A	chr19.hg19:g.47197201C>T	ENSP00000291281:p.Ala503Thr	0					PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T	p.A503T			1	2	3	2.010022	Q9BZL6	KPCD2_HUMAN		10	1732	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	1	1	hg19	c.1507G>A	CCDS12689.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.132859	0.94517	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.097594	0.45361	D	0.000367	T	0.41003	0.1140	M	0.70595	2.14	0.58432	D	0.999998	B;B	0.33748	0.423;0.423	B;B	0.43445	0.42;0.42	T	0.32745	-0.9895	10	0.52906	T	0.07	-18.0442	17.6955	0.88281	0.0:1.0:0.0:0.0	.	503;503	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	503	ENSP00000291281:A503T;ENSP00000393978:A503T	ENSP00000291281:A503T	A	-	1	0	0	PRKD2	51889041	51889041	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.688000	0.84153	2.554000	0.86153	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	0	0	1		21	11	2	1		1	1	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_016457			81	81		310	305	1		1	1		1	0	60	0		1	9.999968e-01	0	79	0	87	0	81	310
PRKD2	25865	broad.mit.edu	37	19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000291281.4	-	4	800	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	192					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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCCGTTTGCGGGCCCCACT	0.647											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000291281.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				41						c.(574-576)cGc>cAc		protein kinase D2							40.0	44.0	43.0					19																	47207843		2203	4300	6503	SO:0001583	missense	25865	0	0					g.chr19:47207843C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.575G>A	chr19.hg19:g.47207843C>T	ENSP00000291281:p.Arg192His	0		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H	p.R192H			1	2	3	2.010022	Q9BZL6	KPCD2_HUMAN		4	800	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	1	1	hg19	c.575G>A	CCDS12689.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.586441	0.96578	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.169690	0.38217	U	0.001763	T	0.76688	0.4022	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.714	T	0.79140	-0.1926	10	0.72032	D	0.01	-40.6081	17.9478	0.89044	0.0:1.0:0.0:0.0	.	192;192	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	192	ENSP00000291281:R192H;ENSP00000393978:R192H	ENSP00000291281:R192H	R	-	2	0	0	PRKD2	51899683	51899683	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.453000	0.80700	2.535000	0.85469	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-2.692974	1	0.170000	NM_016457			44	44		263	260	1		1	1		0	0	48	0		1	1	0	27	0	166	0	44	263
STRN4	29888	broad.mit.edu	37	19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000263280.6	-	17	2210	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000391910.3_Missense_Mutation_p.R728C	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	721						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.R721C(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)		TGCTTCTTGCGGTGGGCCGTG	0.627																																						ENST00000263280.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R721C(1)	large_intestine(1)	17						c.(2161-2163)Cgc>Tgc		striatin, calmodulin binding protein 4							160.0	112.0	128.0					19																	47223960		2203	4300	6503	SO:0001583	missense	29888	0	0					g.chr19:47223960G>A	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.2161C>T	chr19.hg19:g.47223960G>A	ENSP00000263280:p.Arg721Cys	0					STRN4_ENST00000391910.3_Missense_Mutation_p.R728C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000594357.2_5'Flank	p.R721C	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		17	2210	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	1	1	hg19	c.2161C>T	CCDS12690.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082450	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67865	-0.29;-0.24;-0.12	4.45	4.45	0.53987	4.45	4.45	0.53987	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	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.95	D	0.88983	0.3409	10	0.87932	D	0	-21.4832	16.0134	0.80420	0.0:0.0:1.0:0.0	.	728;721	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	728;721;602	ENSP00000375777:R728C;ENSP00000263280:R721C;ENSP00000440901:R602C	ENSP00000263280:R721C	R	-	1	0	0	STRN4	51915800	51915800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.632000	0.67819	2.294000	0.77228	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.141401	1	0.170000				44	40		212	211	0		1	1		0	0	44	0		1	1	0	35	0	179	0	44	212
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000391910.3_Missense_Mutation_p.R449H	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						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)			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)		GGCCAGGGAACGAATGCCGTC	0.612																																						ENST00000263280.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1324-1326)cGt>cAt		striatin, calmodulin binding protein 4							84.0	84.0	84.0					19																	47228829		2203	4300	6503	SO:0001583	missense	29888	0	0					g.chr19:47228829C>T	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.1325G>A	chr19.hg19:g.47228829C>T	ENSP00000263280:p.Arg442His	0					STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000594357.2_5'UTR	p.R442H	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		10	1374	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	1	1	hg19	c.1325G>A	CCDS12690.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	4.92	4.92	0.64577	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	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	0	STRN4	51920669	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-3.691676	1	0.170000				49	49		192	188	1		1	1		0	0	41	0		1	1	0	72	0	143	0	49	192
STRN4	29888	broad.mit.edu	37	19	47228837	47228837	+	Silent	SNP	G	G	A	rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000263280.6	-	10	1366	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000391910.3_Silent_p.D446D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	439						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)			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)		AACGAATGCCGTCGTAGTGCG	0.612																																						ENST00000263280.6	1.000000	0.850000	1	9.900000e-01	0.990000	0.990504	0.990000	1.000000																										0				17						c.(1315-1317)gaC>gaT		striatin, calmodulin binding protein 4		G	,	9,4397	15.5+/-35.6	0,9,2194	97.0	95.0	96.0		1338,1317	-8.3	0.4	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	446/761,439/754	47228837	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	29888	32	121410	44				g.chr19:47228837G>A	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.1317C>T	chr19.hg19:g.47228837G>A		0					STRN4_ENST00000391910.3_Silent_p.D446D|STRN4_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000594357.2_5'UTR	p.D439D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		10	1366	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	1	1	hg19	c.1317C>T	CCDS12690.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-7.584748	1	0.170000				26	24		219	218	0		1	1		0	0	37	0		9.999999e-01	9.999999e-01	0	5	0	227	0	26	219
STRN4	29888	broad.mit.edu	37	19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000263280.6	-	10	1333	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	STRN4_ENST00000594357.2_5'UTR|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|STRN4_ENST00000391910.3_Nonsense_Mutation_p.W435*	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	428						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)			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)		ACTTGGGGTTCCACGTCTTCT	0.607																																						ENST00000263280.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998963	0.990000	1.000000																										0				17						c.(1282-1284)tgG>tgA		striatin, calmodulin binding protein 4							109.0	108.0	109.0					19																	47228870		2203	4300	6503	SO:0001587	stop_gained	29888	0	0					g.chr19:47228870C>T	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.1284G>A	chr19.hg19:g.47228870C>T	ENSP00000263280:p.Trp428*	0					STRN4_ENST00000391910.3_Nonsense_Mutation_p.W435*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'UTR	p.W428*	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		10	1333	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	0	1	hg19	c.1284G>A	CCDS12690.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.435333	0.96150	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	.	.	.	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0279	16.8978	0.86105	0.0:1.0:0.0:0.0	.	.	.	.	X	435;428;309	.	ENSP00000263280:W428X	W	-	3	0	0	STRN4	51920710	51920710	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0		2	2	2	0		0	0	44		44	43	1	2.060000	-3.222431	1	0.170000				30	29		211	207	0		1	1		0	0	44	0		1	1	0	2	0	205	0	30	211
STRN4	29888	broad.mit.edu	37	19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000263280.6	-	7	958	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|STRN4_ENST00000391910.3_Missense_Mutation_p.M303I	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	303						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)			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)		CCTCGTCTTCCATTTCGGGCA	0.577																																						ENST00000263280.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(907-909)atG>atA		striatin, calmodulin binding protein 4							94.0	90.0	91.0					19																	47232005		2203	4300	6503	SO:0001583	missense	29888	0	0					g.chr19:47232005C>T	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.909G>A	chr19.hg19:g.47232005C>T	ENSP00000263280:p.Met303Ile	0					STRN4_ENST00000391910.3_Missense_Mutation_p.M303I|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank	p.M303I	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		7	958	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	1	1	hg19	c.909G>A	CCDS12690.1	1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507207	0.44558	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63096	-0.02;-0.02;0.1	4.64	2.47	0.30058	4.64	2.47	0.30058	.	0.375150	0.27936	N	0.017251	T	0.32556	0.0833	N	0.02539	-0.55	0.35125	D	0.76744	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.20207	-1.0282	10	0.37606	T	0.19	-11.0569	8.5626	0.33520	0.0:0.8136:0.0:0.1864	.	303;303	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	303;303;184;184	ENSP00000375777:M303I;ENSP00000263280:M303I;ENSP00000440901:M184I	ENSP00000263280:M303I	M	-	3	0	0	STRN4	51923845	51923845	1.000000	0.71417	0.974000	0.42286	0.835000	0.47333	1.872000	0.39549	0.561000	0.29186	0.561000	0.74099	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-2.710169	1	0.170000				88	88		430	421	1		1	1		0	0	87	0		1	1	0	65	0	158	0	88	430
STRN4	29888	broad.mit.edu	37	19	47232016	47232016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232016C>T	ENST00000263280.6	-	7	947	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|STRN4_ENST00000391910.3_Missense_Mutation_p.V300M	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	300						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)			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)		ATTTCGGGCACCAGAGCCTTG	0.557											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263280.6	1.000000	0.130000	3.900000e-01	1.900000e-01	0.270000	0.332694	0.270000	0.250000																										0				17						c.(898-900)Gtg>Atg		striatin, calmodulin binding protein 4							87.0	84.0	85.0					19																	47232016		2203	4300	6503	SO:0001583	missense	29888	0	0					g.chr19:47232016C>T	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.898G>A	chr19.hg19:g.47232016C>T	ENSP00000263280:p.Val300Met	0		OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	STRN4_ENST00000391910.3_Missense_Mutation_p.V300M|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank	p.V300M	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	1	2	3	2.010022	Q9NRL3	STRN4_HUMAN		7	947	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	0	1	hg19	c.898G>A	CCDS12690.1	0	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019671	0.35606	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.64260	-0.08;-0.09;0.04	4.64	3.56	0.40772	4.64	3.56	0.40772	.	0.391047	0.25869	N	0.027773	T	0.47322	0.1439	L	0.32530	0.975	0.27214	N	0.959839	B;B	0.21452	0.056;0.004	B;B	0.25405	0.06;0.003	T	0.40794	-0.9544	10	0.46703	T	0.11	-5.7765	6.0249	0.19650	0.0:0.7031:0.1954:0.1015	.	300;300	F8VYA6;Q9NRL3	.;STRN4_HUMAN	M	300;300;181;181	ENSP00000375777:V300M;ENSP00000263280:V300M;ENSP00000440901:V181M	ENSP00000263280:V300M	V	-	1	0	0	STRN4	51923856	51923856	0.997000	0.39634	0.762000	0.31397	0.787000	0.44495	2.773000	0.47686	1.115000	0.41800	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	0	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-9.400218	1	0.170000				11	11		502	493	0		1	1		0	0	83	0		9.981752e-01	9.586082e-01	0	16	0	234	0	11	502
FKRP	79147	broad.mit.edu	37	19	47259280	47259280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000391909.3_Silent_p.C191C|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	191					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741																																						ENST00000318584.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999829	0.990000	1.000000																										0				7						c.(571-573)tgC>tgT		fukutin related protein							4.0	5.0	5.0					19																	47259280		1924	3799	5723	SO:0001819	synonymous_variant	79147	3	114400	37				g.chr19:47259280C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.573C>T	chr19.hg19:g.47259280C>T		0					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	1	2	3	2.010022	Q9H9S5	FKRP_HUMAN		4	870	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	A8K5G7	Silent	SNP	ENST00000318584.5	1	1	hg19	c.573C>T	CCDS12691.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_024301			13	13		43	42	0		1			0	0	9	0		9.997163e-01	0	0	0	0	0	0	13	43
ARHGAP35	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	433	FF 3.				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.R433*(2)									AGTTGAGATGCGAAGGGCGTT	0.463																																						ENST00000404338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R433*(2)	endometrium(2)							c.(1297-1299)Cga>Tga		Rho GTPase activating protein 35							84.0	80.0	82.0					19																	47423229		1886	4099	5985	SO:0001587	stop_gained	2909	0	0					g.chr19:47423229C>T	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.1297C>T	chr19.hg19:g.47423229C>T	ENSP00000385720:p.Arg433*	0						p.R433*	NM_004491.4	NP_004482.4	1	2	3	2.010022	Q9NRY4	RHG35_HUMAN		1	1297	+			A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	0	1	hg19	c.1297C>T	CCDS46127.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011903	0.93346	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	-3.54	0.04653	6.03	-3.54	0.04653	.	0.091446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.3658	20.4143	0.99026	0.3296:0.6704:0.0:0.0	.	.	.	.	X	433	.	ENSP00000324820:R433X	R	+	1	2	2	ARHGAP35	52115069	52115069	0.844000	0.29557	0.729000	0.30791	0.897000	0.52465	0.082000	0.14847	-0.494000	0.06669	-0.262000	0.10625	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000	NM_004491			79	78		367	357	1		1	1		0	0	122	0		1	9.999810e-01	0	8	0	67	0	79	367
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	rs140857154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					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)										GAGGCCTGTAGCACCACCGAA	0.463																																						ENST00000404338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(2884-2886)aGc>aAc		Rho GTPase activating protein 35							62.0	62.0	62.0					19																	47424817		1925	4128	6053	SO:0001583	missense	2909	0	0					g.chr19:47424817G>A	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.2885G>A	chr19.hg19:g.47424817G>A	ENSP00000385720:p.Ser962Asn	0						p.S962N	NM_004491.4	NP_004482.4	1	2	3	2.010022	Q9NRY4	RHG35_HUMAN		1	2885	+			A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	1	0	hg19	c.2885G>A	CCDS46127.1	1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095276	0.07010	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.132298	0.64402	D	0.000001	T	0.07908	0.0198	L	0.29908	0.895	0.36519	D	0.870073	P	0.36392	0.551	B	0.37144	0.242	T	0.13388	-1.0511	10	0.06494	T	0.89	-31.9416	18.9487	0.92632	0.0:0.0:1.0:0.0	.	962	Q9NRY4-2	.	N	962	ENSP00000385720:S962N	ENSP00000324820:S962N	S	+	2	0	0	ARHGAP35	52116657	52116657	0.608000	0.26966	1.000000	0.80357	0.990000	0.78478	1.000000	0.29770	2.778000	0.95560	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-2.873903	1	0.170000	NM_004491			72	71		275	267	1		1	1		0	0	67	0		1	9.999977e-01	0	28	0	47	0	72	275
ARHGAP35	2909	broad.mit.edu	37	19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	994					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)										CCATCTTACAGCCTGTTTCGA	0.493																																						ENST00000404338.3	1.000000	0.720000	1	8.900000e-01	0.990000	0.961929	0.990000	1.000000																										0										c.(2980-2982)aGc>aAc		Rho GTPase activating protein 35							62.0	61.0	61.0					19																	47424913		1940	4151	6091	SO:0001583	missense	2909	0	0					g.chr19:47424913G>A	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.2981G>A	chr19.hg19:g.47424913G>A	ENSP00000385720:p.Ser994Asn	0						p.S994N	NM_004491.4	NP_004482.4	1	2	3	2.010022	Q9NRY4	RHG35_HUMAN		1	2981	+			A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	1	1	hg19	c.2981G>A	CCDS46127.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559972	0.27827	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08720	3.06	5.76	1.08	0.20341	5.76	1.08	0.20341	.	0.813714	0.12204	N	0.489984	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	0.999994	P	0.36392	0.551	B	0.39531	0.302	T	0.29119	-1.0022	10	0.46703	T	0.11	-4.8785	6.1961	0.20550	0.0699:0.3604:0.4428:0.1268	.	994	Q9NRY4-2	.	N	994	ENSP00000385720:S994N	ENSP00000324820:S994N	S	+	2	0	0	ARHGAP35	52116753	52116753	0.172000	0.23043	0.450000	0.26969	0.803000	0.45373	0.815000	0.27253	0.059000	0.16252	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_004491			25	25		251	245	1		1	1		0	0	52	0		9.999998e-01	9.919478e-01	0	10	0	69	0	25	251
NPAS1	4861	broad.mit.edu	37	19	47535606	47535606	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000439365.2_5'Flank			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602212.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(427-429)ttG>ttA		neuronal PAS domain protein 1							39.0	44.0	42.0					19																	47535606		2203	4300	6503	SO:0001819	synonymous_variant	4861	0	0					g.chr19:47535606G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.429G>A	chr19.hg19:g.47535606G>A		0		OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000439365.2_5'Flank	p.L143L			1	2	3	2.010022	Q99742	NPAS1_HUMAN		4	649	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	1	1	hg19	c.429G>A	CCDS12694.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_002517			93	91		359	354	1		1	0		0	0	70	0		1	0	0	1	0	0	0	93	359
NPAS1	4861	broad.mit.edu	37	19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	306	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672																																						ENST00000602212.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(916-918)Gtc>Atc		neuronal PAS domain protein 1							34.0	33.0	33.0					19																	47542776		2203	4294	6497	SO:0001583	missense	4861	1	121352	32				g.chr19:47542776G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.916G>A	chr19.hg19:g.47542776G>A	ENSP00000469142:p.Val306Ile	0					NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I	p.V306I			1	2	3	2.010022	Q99742	NPAS1_HUMAN		8	1136	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	1	1	hg19	c.916G>A	CCDS12694.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744551	0.89663	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.29917	2.33;1.55	4.56	4.56	0.56223	4.56	4.56	0.56223	PAS (1);	0.000000	0.64402	D	0.000009	T	0.45115	0.1326	L	0.41356	1.27	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.891	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.8213	0.57694	0.0:0.0:1.0:0.0	.	130;306	B4DR69;Q99742	.;NPAS1_HUMAN	I	306;130	ENSP00000405290:V306I;ENSP00000398689:V130I	ENSP00000398689:V130I	V	+	1	0	0	NPAS1	52234616	52234616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.388000	0.73195	2.097000	0.63578	0.561000	0.74099	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	1	0	1		2	2	2	0		0	0	60		60	55	1	2.060000	-20.000000	1	0.170000	NM_002517			72	71		250	238	1		1			0	0	60	0		1	0	0	0	0	0	0	72	250
ZC3H4	23211	broad.mit.edu	37	19	47570756	47570756	+	Silent	SNP	C	C	T	rs561929540	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	923							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCCTCCGTTGGGGGCG	0.711													C|||	2	0.000399361	0.0	0.0	5008	,	,		13703	0.0		0.0	False		,,,				2504	0.002					ENST00000253048.5	1.000000	0.310000	6.500000e-01	4.000000e-01	0.500000	0.542204	0.500000	0.480000																										0				41						c.(2767-2769)acG>acA		zinc finger CCCH-type containing 4							38.0	45.0	43.0					19																	47570756		1900	4096	5996	SO:0001819	synonymous_variant	23211	7	120694	39				g.chr19:47570756C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2769G>A	chr19.hg19:g.47570756C>T		0					ZC3H4_ENST00000594019.1_Intron	p.T923T	NM_015168.1	NP_055983.1	1	2	3	2.010022	Q9UPT8	ZC3H4_HUMAN		15	2806	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	Q9Y420	Silent	SNP	ENST00000253048.5	1	1	hg19	c.2769G>A	CCDS42582.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	1		2	2	2	0		0	0	65		65	62	1	2.060000	-3.102536	1	0.170000				22	21		515	507	0		1	1		0	0	65	0		9.999985e-01	5.893332e-01	0	2	0	45	0	22	515
ZC3H4	23211	broad.mit.edu	37	19	47584827	47584827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	461							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542																																						ENST00000253048.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1381-1383)gaC>gaT		zinc finger CCCH-type containing 4							140.0	139.0	139.0					19																	47584827		2054	4194	6248	SO:0001819	synonymous_variant	23211	0	0					g.chr19:47584827G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1383C>T	chr19.hg19:g.47584827G>A		0					RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	p.D461D	NM_015168.1	NP_055983.1	1	2	3	2.010022	Q9UPT8	ZC3H4_HUMAN		11	1420	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	Q9Y420	Silent	SNP	ENST00000253048.5	1	1	hg19	c.1383C>T	CCDS42582.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				64	64		326	316	0		1	1		0	0	78	0		1	9.979904e-01	0	8	0	42	0	64	326
ZC3H4	23211	broad.mit.edu	37	19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	348	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597																																						ENST00000253048.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1042-1044)aGc>aAc		zinc finger CCCH-type containing 4							191.0	203.0	199.0					19																	47588377		2107	4204	6311	SO:0001583	missense	23211	0	0					g.chr19:47588377C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1043G>A	chr19.hg19:g.47588377C>T	ENSP00000253048:p.Ser348Asn	0					ZC3H4_ENST00000594019.1_Intron	p.S348N	NM_015168.1	NP_055983.1	1	2	3	2.010022	Q9UPT8	ZC3H4_HUMAN		8	1080	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	1	1	hg19	c.1043G>A	CCDS42582.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721601	0.68959	.	.	ENSG00000130749	ENST00000253048	T	0.17691	2.26	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.504809	0.23924	N	0.043218	T	0.12305	0.0299	N	0.22421	0.69	0.25133	N	0.990553	P	0.34462	0.454	B	0.26614	0.071	T	0.19386	-1.0307	10	0.28530	T	0.3	.	17.3508	0.87323	0.0:1.0:0.0:0.0	.	348	Q9UPT8	ZC3H4_HUMAN	N	348	ENSP00000253048:S348N	ENSP00000253048:S348N	S	-	2	0	0	ZC3H4	52280217	52280217	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	4.293000	0.59037	2.838000	0.97847	0.561000	0.74099	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	1		2	2	2	0		0	0	214		214	211	1	2.060000	-20.000000	1	0.170000				177	169		807	790	1		1	1		0	0	214	0		1	9.992958e-01	0	16	0	34	0	177	807
CCDC9	26093	broad.mit.edu	37	19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	67							poly(A) RNA binding (GO:0044822)			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)		GGAGAACGTGGCAGTGGAGTC	0.622																																						ENST00000221922.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				12						c.(199-201)Gca>Aca		coiled-coil domain containing 9							38.0	31.0	34.0					19																	47763668		2202	4298	6500	SO:0001583	missense	26093	0	0					g.chr19:47763668G>A	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.199G>A	chr19.hg19:g.47763668G>A	ENSP00000221922:p.Ala67Thr	0						p.A67T	NM_015603.2	NP_056418.1	1	2	3	2.010022	Q9Y3X0	CCDC9_HUMAN		4	421	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		Missense_Mutation	SNP	ENST00000221922.6	0	1	hg19	c.199G>A	CCDS12698.1	1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.764582	0.31228	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.21361	2.01	3.38	3.38	0.38709	3.38	3.38	0.38709	.	0.391146	0.23398	N	0.048608	T	0.16385	0.0394	L	0.45137	1.4	0.22639	N	0.998904	P	0.40731	0.728	B	0.37888	0.26	T	0.12811	-1.0533	10	0.15952	T	0.53	-5.1606	12.1213	0.53893	0.0:0.0:1.0:0.0	.	67	Q9Y3X0	CCDC9_HUMAN	T	67	ENSP00000221922:A67T	ENSP00000221922:A67T	A	+	1	0	0	CCDC9	52455508	52455508	0.999000	0.42202	0.737000	0.30932	0.406000	0.30931	3.854000	0.55949	1.907000	0.55213	0.486000	0.48141	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_015603			22	21		83	79	1		1	1		0	0	12	0		9.999991e-01	1	0	46	0	96	0	22	83
DHX34	9704	broad.mit.edu	37	19	47856540	47856540	+	Nonsense_Mutation	SNP	C	C	T	rs201215344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	ENST00000328771.4	+	2	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	85					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGACCCTGGACAGCCCAAGCA	0.567																																						ENST00000328771.4	1.000000	0.320000	5.900000e-01	3.900000e-01	0.470000	0.516709	0.470000	0.460000																										0				36						c.(253-255)Cag>Tag		DEAH (Asp-Glu-Ala-His) box polypeptide 34							102.0	102.0	102.0					19																	47856540		2203	4300	6503	SO:0001587	stop_gained	9704	0	0					g.chr19:47856540C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.253C>T	chr19.hg19:g.47856540C>T	ENSP00000331907:p.Gln85*	0						p.Q85*	NM_014681.5	NP_055496.2	1	2	3	2.010022	Q14147	DHX34_HUMAN		2	602	+		all_cancers(25;1.65e-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)	B4DMY8	Nonsense_Mutation	SNP	ENST00000328771.4	0	1	hg19	c.253C>T	CCDS12700.1	0	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132073	0.77662	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	.	.	.	5.84	-1.84	0.07809	5.84	-1.84	0.07809	.	3.498840	0.00550	N	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-22.3369	2.2393	0.04016	0.1073:0.4364:0.2036:0.2527	.	.	.	.	X	85	.	ENSP00000257252:Q85X	Q	+	1	0	0	DHX34	52548380	52548380	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.206000	0.17375	-0.105000	0.12132	0.555000	0.69702	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	0	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-4.270593	1	0.170000	NM_014681			30	30		739	719	0		1	0		0	0	154	0		1	1.776849e-01	0	1	0	18	0	30	739
DHX34	9704	broad.mit.edu	37	19	47865893	47865893	+	Silent	SNP	C	C	T	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	512	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642																																						ENST00000328771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1534-1536)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 34		C		1,4403		0,1,2201	24.0	25.0	25.0		1536	-2.1	1.0	19	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	DHX34	NM_014681.5		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		512/1144	47865893	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	9704	7	121354	36				g.chr19:47865893C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1536C>T	chr19.hg19:g.47865893C>T		0					DHX34_ENST00000471451.1_Intron	p.F512F	NM_014681.5	NP_055496.2	1	2	3	2.010022	Q14147	DHX34_HUMAN		6	1885	+		all_cancers(25;1.65e-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)	B4DMY8	Silent	SNP	ENST00000328771.4	1	1	hg19	c.1536C>T	CCDS12700.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-3.667591	1	0.170000	NM_014681			47	46		179	177	1		1	1		0	0	38	0		1	9.469037e-01	0	3	0	18	0	47	179
DHX34	9704	broad.mit.edu	37	19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	572					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667																																						ENST00000328771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1714-1716)Gcc>Acc		DEAH (Asp-Glu-Ala-His) box polypeptide 34							38.0	37.0	37.0					19																	47870358		2203	4300	6503	SO:0001583	missense	9704	0	0					g.chr19:47870358G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1714G>A	chr19.hg19:g.47870358G>A	ENSP00000331907:p.Ala572Thr	0					DHX34_ENST00000471451.1_3'UTR	p.A572T	NM_014681.5	NP_055496.2	1	2	3	2.010022	Q14147	DHX34_HUMAN		7	2063	+		all_cancers(25;1.65e-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)	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	1	1	hg19	c.1714G>A	CCDS12700.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119434	0.37436	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.46	1.91	0.25777	5.46	1.91	0.25777	Helicase-associated domain (2);	0.562264	0.16895	N	0.195155	T	0.02119	0.0066	N	0.26162	0.8	0.30097	N	0.807772	B	0.14438	0.01	B	0.17979	0.02	T	0.34279	-0.9835	10	0.19147	T	0.46	-24.4834	6.3607	0.21427	0.2459:0.1443:0.6098:0.0	.	572	Q14147	DHX34_HUMAN	T	572;487	ENSP00000331907:A572T	ENSP00000257252:A487T	A	+	1	0	0	DHX34	52562193	52562193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.792000	0.26929	1.215000	0.43411	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	1		2	2	2	0		0	0	36		36	40	1	2.060000	-19.999470	1	0.170000	NM_014681			38	37		160	154	1		1	1		0	0	36	0		1	9.923501e-01	0	7	0	28	0	38	160
FEM1A	55527	broad.mit.edu	37	19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	395					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)			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)		TACATCCGTTACAGGGGTGCC	0.617																																						ENST00000269856.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1183-1185)tAc>tGc		fem-1 homolog a (C. elegans)							50.0	48.0	49.0					19																	4793050		2203	4300	6503	SO:0001583	missense	55527	0	0					g.chr19:4793050A>G	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.1184A>G	chr19.hg19:g.4793050A>G	ENSP00000269856:p.Tyr395Cys	0					AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	p.Y395C	NM_018708.2	NP_061178.1	1	2	3	2.010022	Q9BSK4	FEM1A_HUMAN		1	1323	+		Hepatocellular(1079;0.137)	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	1	1	hg19	c.1184A>G	CCDS12135.1	1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163560	0.57476	.	.	ENSG00000141965	ENST00000269856	T	0.63580	-0.05	4.88	4.88	0.63580	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000002	T	0.81740	0.4886	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84247	0.0475	10	0.42905	T	0.14	-24.2112	14.4967	0.67694	1.0:0.0:0.0:0.0	.	395	Q9BSK4	FEM1A_HUMAN	C	395	ENSP00000269856:Y395C	ENSP00000269856:Y395C	Y	+	2	0	0	FEM1A	4744050	4744050	1.000000	0.71417	0.965000	0.40720	0.538000	0.34931	9.119000	0.94362	1.824000	0.53156	0.402000	0.26972	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				104	104		425	418	1		1	1		0	0	78	0		1	9.999894e-01	0	22	0	47	0	104	425
FEM1A	55527	broad.mit.edu	37	19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	595					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)			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)		CAACTGCCCGGCCATCATGAA	0.607																																						ENST00000269856.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				17						c.(1783-1785)Gcc>Acc		fem-1 homolog a (C. elegans)							60.0	54.0	56.0					19																	4793649		2203	4300	6503	SO:0001583	missense	55527	0	0					g.chr19:4793649G>A	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.1783G>A	chr19.hg19:g.4793649G>A	ENSP00000269856:p.Ala595Thr	0					AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	p.A595T	NM_018708.2	NP_061178.1	1	2	3	2.010022	Q9BSK4	FEM1A_HUMAN		1	1922	+		Hepatocellular(1079;0.137)	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	1	1	hg19	c.1783G>A	CCDS12135.1	1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906090	0.33628	.	.	ENSG00000141965	ENST00000269856	T	0.70986	-0.53	4.92	3.85	0.44370	4.92	3.85	0.44370	Ankyrin repeat-containing domain (4);	0.596241	0.16305	U	0.220273	T	0.56630	0.1998	N	0.20483	0.58	0.28969	N	0.889377	B	0.02656	0.0	B	0.10450	0.005	T	0.55573	-0.8120	10	0.49607	T	0.09	-9.6475	13.4172	0.60976	0.0:0.2677:0.7323:0.0	.	595	Q9BSK4	FEM1A_HUMAN	T	595	ENSP00000269856:A595T	ENSP00000269856:A595T	A	+	1	0	0	FEM1A	4744649	4744649	0.975000	0.34042	0.967000	0.41034	0.977000	0.68977	4.857000	0.62939	2.264000	0.75181	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				36	35		204	200	1		1	1		0	0	51	0		1	9.999497e-01	0	28	0	61	0	36	204
DHX34	9704	broad.mit.edu	37	19	47879730	47879730	+	Missense_Mutation	SNP	G	G	A	rs143455169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47879730G>A	ENST00000328771.4	+	12	2861	c.2512G>A	c.(2512-2514)Gtg>Atg	p.V838M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	838					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCAGGGCGCCGTGCTGCACCC	0.647																																						ENST00000328771.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999797	0.990000	1.000000																										0				36						c.(2512-2514)Gtg>Atg		DEAH (Asp-Glu-Ala-His) box polypeptide 34		G	MET/VAL	1,4397	2.1+/-5.4	0,1,2198	25.0	25.0	25.0		2512	5.4	1.0	19	dbSNP_134	25	0,8600		0,0,4300	no	missense	DHX34	NM_014681.5	21	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	838/1144	47879730	1,12997	2199	4300	6499	SO:0001583	missense	9704	2	121240	33				g.chr19:47879730G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2512G>A	chr19.hg19:g.47879730G>A	ENSP00000331907:p.Val838Met	0						p.V838M	NM_014681.5	NP_055496.2	1	2	3	2.010022	Q14147	DHX34_HUMAN		12	2861	+		all_cancers(25;1.65e-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)	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	0	0	hg19	c.2512G>A	CCDS12700.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246950	0.80024	2.27E-4	0.0	ENSG00000134815	ENST00000328771	T	0.03242	4.0	5.38	5.38	0.77491	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.53938	D	0.000054	T	0.15046	0.0363	M	0.79475	2.455	0.58432	D	0.999998	D	0.63046	0.992	P	0.57425	0.82	T	0.00191	-1.1936	10	0.48119	T	0.1	-29.2816	16.0195	0.80472	0.0:0.0:1.0:0.0	.	838	Q14147	DHX34_HUMAN	M	838	ENSP00000331907:V838M	ENSP00000331907:V838M	V	+	1	0	0	DHX34	52571528	52571528	1.000000	0.71417	0.951000	0.38953	0.655000	0.38815	8.165000	0.89663	2.514000	0.84764	0.591000	0.81541	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014681			16	15		69	69	1		1	1		0	0	11	0		9.999596e-01	9.359685e-01	0	7	0	16	0	16	69
SLC8A2	6543	broad.mit.edu	37	19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	190					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGATCTTGCGGCTCTCGCCG	0.572																																						ENST00000236877.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				31						c.(568-570)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 2							66.0	47.0	53.0					19																	47969093		2203	4300	6503	SO:0001583	missense	6543	0	0					g.chr19:47969093G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.568C>T	chr19.hg19:g.47969093G>A	ENSP00000236877:p.Arg190Cys	0					SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.R190C	NM_015063.2	NP_055878.1	1	2	3	2.010022	Q9UPR5	NAC2_HUMAN		2	963	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	1	1	hg19	c.568C>T	CCDS33065.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280534	0.80692	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.66460	-0.21	4.04	4.04	0.47022	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89913	0.4053	10	0.87932	D	0	.	15.1426	0.72623	0.0:0.0:1.0:0.0	.	18;190	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	18;190	ENSP00000236877:R190C	ENSP00000236877:R190C	R	-	1	0	0	SLC8A2	52660905	52660905	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.098000	0.63641	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.369696	1	0.170000				33	32		168	164	1		1	0		0	0	35	0		1	0	0	0	0	1	0	33	168
KPTN	11133	broad.mit.edu	37	19	47979831	47979831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	380					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGGCAAGCTCCTGCAGCCCAT	0.652																																						ENST00000338134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1138-1140)caG>caA		kaptin (actin binding protein)							24.0	27.0	26.0					19																	47979831		2056	4190	6246	SO:0001819	synonymous_variant	11133	0	0					g.chr19:47979831C>T	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1140G>A	chr19.hg19:g.47979831C>T		0					KPTN_ENST00000536339.1_Silent_p.Q140Q	p.Q380Q	NM_007059.2	NP_008990.2	1	2	3	2.010022	Q9Y664	KPTN_HUMAN		11	1247	-		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)	B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	1	1	hg19	c.1140G>A	CCDS42583.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				40	40		158	156	0		1	1		0	0	29	0		1	9.967537e-01	0	12	0	25	0	40	158
TICAM1	148022	broad.mit.edu	37	19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	295	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|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)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637																																						ENST00000248244.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				26						c.(883-885)Gaa>Taa		toll-like receptor adaptor molecule 1							31.0	37.0	35.0					19																	4817507		2203	4300	6503	SO:0001587	stop_gained	148022	0	0					g.chr19:4817507C>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.883G>T	chr19.hg19:g.4817507C>A	ENSP00000248244:p.Glu295*	0						p.E295*	NM_182919.3	NP_891549.1	1	2	3	2.010022	Q8IUC6	TCAM1_HUMAN		2	1112	-			B3Y691|O75532|Q86XP8|Q96GA0	Nonsense_Mutation	SNP	ENST00000248244.5	0	1	hg19	c.883G>T	CCDS12136.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.278236	0.95459	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.1	0.392	0.16288	4.1	0.392	0.16288	.	1.162720	0.06964	U	0.816853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3724	5.8491	0.18683	0.0:0.6612:0.1558:0.183	.	.	.	.	X	295	.	ENSP00000248244:E295X	E	-	1	0	0	TICAM1	4768507	4768507	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.188000	0.09642	-0.022000	0.13986	0.297000	0.19635	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_014261			40	38		222	218	1		1	1		0	0	58	0		1	1	0	60	0	124	0	40	222
NAPA	8775	broad.mit.edu	37	19	47996703	47996703	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																					Ovarian(185;1135 2042 27703 31345 42493)	ENST00000263354.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I130I(1)	large_intestine(1)	11						c.(388-390)atC>atA		N-ethylmaleimide-sensitive factor attachment protein, alpha							252.0	217.0	229.0					19																	47996703		2203	4300	6503	SO:0001819	synonymous_variant	8775	0	0					g.chr19:47996703G>T	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	chr19.hg19:g.47996703G>T		0					NAPA_ENST00000593785.1_5'Flank|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA	p.I130I	NM_003827.3	NP_003818.2	1	2	3	2.010022	P54920	SNAA_HUMAN		5	689	-		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)	A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	1	1	hg19	c.390C>A	CCDS12702.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	1	0	1		2	2	2	0		0	0	225		225	222	1	2.060000	-20.000000	1	0.170000	NM_003827			233	230		1056	1042	1		1	1		0	0	225	0		1	1	0	55	0	301	0	233	1056
GLTSCR1	29998	broad.mit.edu	37	19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	470										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGGGCCAGAACCAGTTCCTA	0.721																																						ENST00000396720.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999837	0.990000	1.000000																										0				20						c.(1408-1410)aAc>aGc		glioma tumor suppressor candidate region gene 1							17.0	22.0	20.0					19																	48183836		2058	4184	6242	SO:0001583	missense	29998	0	0					g.chr19:48183836A>G	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1409A>G	chr19.hg19:g.48183836A>G	ENSP00000379946:p.Asn470Ser	0					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.N470S	NM_015711.3	NP_056526.3	1	2	3	2.010022	Q9NZM4	GSCR1_HUMAN		6	1603	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	A8MW01	Missense_Mutation	SNP	ENST00000396720.3	1	1	hg19	c.1409A>G	CCDS46134.1	1	.	.	.	.	.	.	.	.	.	.	a	9.517	1.107398	0.20714	.	.	ENSG00000063169	ENST00000396720	T	0.56103	0.48	4.6	1.12	0.20585	4.6	1.12	0.20585	.	.	.	.	.	T	0.37404	0.1002	L	0.42245	1.32	0.30381	N	0.781977	B	0.18310	0.027	B	0.16289	0.015	T	0.29971	-0.9994	9	0.31617	T	0.26	.	2.8672	0.05605	0.6258:0.1483:0.0831:0.1428	.	470	Q9NZM4	GSCR1_HUMAN	S	470	ENSP00000379946:N470S	ENSP00000379946:N470S	N	+	2	0	0	GLTSCR1	52875648	52875648	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.857000	0.62939	0.160000	0.19432	-0.494000	0.04653	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_015711			19	19		91	91	0		1			0	0	21	0		9.999951e-01	0	0	0	0	0	0	19	91
GLTSCR1	29998	broad.mit.edu	37	19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	932										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTCCCTGAGCCGGCAGCACC	0.682																																						ENST00000396720.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2794-2796)Ccg>Tcg		glioma tumor suppressor candidate region gene 1							17.0	19.0	18.0					19																	48197882		1843	4078	5921	SO:0001583	missense	29998	0	0					g.chr19:48197882C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2794C>T	chr19.hg19:g.48197882C>T	ENSP00000379946:p.Pro932Ser	0					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P932S	NM_015711.3	NP_056526.3	1	2	3	2.010022	Q9NZM4	GSCR1_HUMAN		8	2988	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	A8MW01	Missense_Mutation	SNP	ENST00000396720.3	1	1	hg19	c.2794C>T	CCDS46134.1	1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577510	0.13686	.	.	ENSG00000063169	ENST00000396720	T	0.29655	1.56	2.67	2.67	0.31697	2.67	2.67	0.31697	.	.	.	.	.	T	0.22126	0.0533	N	0.24115	0.695	0.27966	N	0.93657	D	0.55172	0.97	P	0.45506	0.483	T	0.04693	-1.0933	9	0.19147	T	0.46	.	10.9231	0.47176	0.0:1.0:0.0:0.0	.	932	Q9NZM4	GSCR1_HUMAN	S	932	ENSP00000379946:P932S	ENSP00000379946:P932S	P	+	1	0	0	GLTSCR1	52889694	52889694	0.747000	0.28283	0.604000	0.28916	0.012000	0.07955	0.000000	0.12993	1.436000	0.47453	0.289000	0.19496	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_015711			41	39		167	153	0		1	1		0	0	39	0		1	9.438950e-01	0	7	0	15	0	41	167
EHD2	30846	broad.mit.edu	37	19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	481	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			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)		GGGGACCAAGCTCCCCAACTC	0.612																																						ENST00000263277.3	1.000000	0.390000	8.900000e-01	5.100000e-01	0.660000	0.689419	0.660000	1.000000																										0				19						c.(1441-1443)Ctc>Ttc		EH-domain containing 2							67.0	53.0	58.0					19																	48244498		2203	4300	6503	SO:0001583	missense	30846	0	0					g.chr19:48244498C>T	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.1441C>T	chr19.hg19:g.48244498C>T	ENSP00000263277:p.Leu481Phe	0					EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	p.L481F	NM_014601.3	NP_055416.2	1	2	3	2.010022	Q9NZN4	EHD2_HUMAN		6	1692	+		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)	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	1	1	hg19	c.1441C>T	CCDS12704.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966356|3.966356	0.74131|0.74131	.|.	.|.	ENSG00000024422|ENSG00000024422	ENST00000454483|ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.|T;T	.|0.49720	.|0.77;0.77	4.03|4.03	4.03|4.03	0.46877|0.46877	4.03|4.03	4.03|4.03	0.46877|0.46877	.|EPS15 homology (EH) (2);EF-hand-like domain (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89471|0.89471	0.3743|0.3743	6|10	0.31617|0.87932	T|D	0.26|0	-27.2593|-27.2593	14.0469|14.0469	0.64710|0.64710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481	.|Q9NZN4	.|EHD2_HUMAN	V|F	150|481;471;345;164	.|ENSP00000263277:L481F;ENSP00000439036:L345F	ENSP00000391634:A150V|ENSP00000263277:L481F	A|L	+|+	2|1	0|0	0|0	EHD2|EHD2	52936310|52936310	52936310|52936310	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.707000|0.707000	0.40811|0.40811	5.919000|5.919000	0.70005|0.70005	1.966000|1.966000	0.57179|0.57179	0.561000|0.561000	0.74099|0.74099	GCT|CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-18.374170	1	0.170000				16	16		281	275	0		1	1		0	0	66	0		9.999286e-01	9.984565e-01	0	7	0	181	0	16	281
GLTSCR2	29997	broad.mit.edu	37	19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			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)		CCGGGAGGTGCGCAGGGCCCA	0.687																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5	1.000000	0.730000	1	9.900000e-01	0.990000	0.981845	0.990000	1.000000																										0				15						c.(496-498)Cgc>Tgc		glioma tumor suppressor candidate region gene 2							15.0	15.0	15.0					19																	48254262		2193	4292	6485	SO:0001583	missense	29997	4	120972	36				g.chr19:48254262C>T	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.496C>T	chr19.hg19:g.48254262C>T	ENSP00000246802:p.Arg166Cys	0					GLTSCR2_ENST00000598681.1_3'UTR	p.R166C	NM_015710.4	NP_056525.2	1	2	3	2.010022	Q9NZM5	GSCR2_HUMAN		4	534	+		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)	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	0	1	hg19	c.496C>T	CCDS12705.1	1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449166	0.63178	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.46819	0.86	3.86	3.86	0.44501	3.86	3.86	0.44501	.	0.160449	0.41938	D	0.000785	T	0.63827	0.2544	M	0.68317	2.08	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.67201	-0.5730	10	0.72032	D	0.01	-14.0727	11.4519	0.50158	0.0:1.0:0.0:0.0	.	166;166;164	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	C	166	ENSP00000246802:R166C	ENSP00000246802:R166C	R	+	1	0	0	GLTSCR2	52946074	52946074	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.773000	0.55333	2.138000	0.66242	0.407000	0.27541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-14.374220	1	0.170000	NM_015710			7	7		44	44	1		1	1		0	0	13	0		9.832417e-01	1	0	282	0	763	0	7	44
GLTSCR2	29997	broad.mit.edu	37	19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	226						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			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)		ACAGCGGCCAGCACGCCTGCA	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(676-678)Gca>Aca		glioma tumor suppressor candidate region gene 2							54.0	48.0	50.0					19																	48255775		2203	4300	6503	SO:0001583	missense	29997	2	121350	28				g.chr19:48255775G>A	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.676G>A	chr19.hg19:g.48255775G>A	ENSP00000246802:p.Ala226Thr	0					GLTSCR2_ENST00000598681.1_3'UTR	p.A226T	NM_015710.4	NP_056525.2	1	2	3	2.010022	Q9NZM5	GSCR2_HUMAN		6	714	+		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)	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	1	1	hg19	c.676G>A	CCDS12705.1	1	.	.	.	.	.	.	.	.	.	.	g	7.465	0.645474	0.14451	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.43688	0.94	4.08	1.93	0.25924	4.08	1.93	0.25924	.	1.116760	0.06648	N	0.762308	T	0.23688	0.0573	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19331	0.035;0.028;0.035	B;B;B	0.24394	0.033;0.024;0.053	T	0.30208	-0.9986	10	0.14656	T	0.56	-1.9066	5.7496	0.18140	0.0:0.6922:0.199:0.1088	.	226;226;224	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	T	226	ENSP00000246802:A226T	ENSP00000246802:A226T	A	+	1	0	0	GLTSCR2	52947587	52947587	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.736000	0.26130	0.500000	0.27991	-0.387000	0.06579	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	0		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_015710			65	64		297	292	1		1	1		0	0	43	0		1	1	0	165	0	674	0	65	297
GLTSCR2	29997	broad.mit.edu	37	19	48255822	48255822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			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)		TGGAGGTGGCGCCTGCCGGAG	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(721-723)gcG>gcA		glioma tumor suppressor candidate region gene 2							76.0	67.0	70.0					19																	48255822		2203	4300	6503	SO:0001819	synonymous_variant	29997	0	0					g.chr19:48255822G>A	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.723G>A	chr19.hg19:g.48255822G>A		0					GLTSCR2_ENST00000598681.1_3'UTR	p.A241A	NM_015710.4	NP_056525.2	1	2	3	2.010022	Q9NZM5	GSCR2_HUMAN		6	761	+		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)	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	1	1	hg19	c.723G>A	CCDS12705.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	0		2	2	2	0		0	0	53		53	48	1	2.060000	-3.422876	1	0.170000	NM_015710			66	64		296	287	1		1	1		0	0	53	0		1	1	0	205	0	589	0	66	296
GLTSCR2	29997	broad.mit.edu	37	19	48258122	48258122	+	Missense_Mutation	SNP	C	C	T	rs536507041		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48258122C>T	ENST00000246802.5	+	8	1065	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	343						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			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)		GCAGCAGCGGCGGCGGGAGAA	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		11236	0.0		0.0	False		,,,				2504	0.001				Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5	1.000000	0.570000	1	9.200000e-01	0.990000	0.957096	0.990000	1.000000																										0				15						c.(1027-1029)Cgg>Tgg		glioma tumor suppressor candidate region gene 2							5.0	9.0	8.0					19																	48258122		2077	4130	6207	SO:0001583	missense	29997	2	113008	24				g.chr19:48258122C>T	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.1027C>T	chr19.hg19:g.48258122C>T	ENSP00000246802:p.Arg343Trp	0					SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	p.R343W	NM_015710.4	NP_056525.2	1	2	3	2.010022	Q9NZM5	GSCR2_HUMAN		8	1065	+		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)	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	0	1	hg19	c.1027C>T	CCDS12705.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.477870|2.477870	0.44044|0.44044	.|.	.|.	ENSG00000105373|ENSG00000105373	ENST00000325566|ENST00000246802	.|T	.|0.50001	.|0.76	3.84|3.84	2.7|2.7	0.31948|0.31948	3.84|3.84	2.7|2.7	0.31948|0.31948	.|.	.|0.126503	.|0.50627	.|D	.|0.000111	T|T	0.62295|0.62295	0.2416|0.2416	M|M	0.80422|0.80422	2.495|2.495	0.42653|0.42653	D|D	0.993456|0.993456	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.63033	.|0.91;0.88;0.828	T|T	0.65726|0.65726	-0.6098|-0.6098	6|10	0.54805|0.59425	T|D	0.06|0.04	-20.7609|-20.7609	8.0244|8.0244	0.30427|0.30427	0.2428:0.7572:0.0:0.0|0.2428:0.7572:0.0:0.0	.|.	.|343;343;341	.|Q53YP0;Q9NZM5;Q96CS0	.|.;GSCR2_HUMAN;.	V|W	341|343	.|ENSP00000246802:R343W	ENSP00000324079:A341V|ENSP00000246802:R343W	A|R	+|+	2|1	0|2	0|2	GLTSCR2|GLTSCR2	52949934|52949934	52949934|52949934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	2.674000|2.674000	0.46867|0.46867	2.123000|2.123000	0.65237|0.65237	0.411000|0.411000	0.27672|0.27672	GCG|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	0	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-11.374810	1	0.170000	NM_015710			5	5		36	34	0		1	1		0	0	8	0		9.334054e-01	9.995088e-01	0	10	0	139	0	5	36
CRX	1406	broad.mit.edu	37	19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	99					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)			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)		agcagcgacagcagcagaaac	0.642																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(295-297)caG>caT		cone-rod homeobox							54.0	63.0	60.0					19																	48342621		2202	4300	6502	SO:0001583	missense	1406	0	0					g.chr19:48342621G>T	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.297G>T	chr19.hg19:g.48342621G>T	ENSP00000221996:p.Gln99His	0					CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	p.Q99H	NM_000554.4	NP_000545.1	1	2	3	2.010022	O43186	CRX_HUMAN		4	503	+		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)	Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	1	1	hg19	c.297G>T	CCDS12706.1	1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564636	0.45694	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91124	-2.79;-2.79	3.86	2.8	0.32819	3.86	2.8	0.32819	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.24115	0.695	0.58432	D	0.999991	D	0.61080	0.989	P	0.59115	0.852	D	0.86203	0.1620	10	0.56958	D	0.05	-8.5147	7.3399	0.26632	0.148:0.0:0.852:0.0	.	99	O43186	CRX_HUMAN	H	99	ENSP00000221996:Q99H;ENSP00000445565:Q99H	ENSP00000221996:Q99H	Q	+	3	2	2	CRX	53034433	53034433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	0.739000	0.32628	0.460000	0.39030	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	1	0	1		2	2	2	0		0	0	195		195	195	1	2.060000	-20.000000	1	0.170000	NM_000554			198	194		759	743	1		1			0	0	195	0		1	0	0	0	0	0	0	198	759
CRX	1406	broad.mit.edu	37	19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	198					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)			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)		CTACGCCCCGGCCTCCGCTTT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(592-594)Gcc>Acc		cone-rod homeobox							61.0	64.0	63.0					19																	48342916		2203	4300	6503	SO:0001583	missense	1406	0	0					g.chr19:48342916G>A	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.592G>A	chr19.hg19:g.48342916G>A	ENSP00000221996:p.Ala198Thr	0					CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	p.A198T	NM_000554.4	NP_000545.1	1	2	3	2.010022	O43186	CRX_HUMAN		4	798	+		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)	Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	1	1	hg19	c.592G>A	CCDS12706.1	1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481258	0.26598	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87103	-2.21;-2.21	4.46	3.41	0.39046	4.46	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.83889	0.5352	L	0.27053	0.805	0.37373	D	0.911731	D	0.56287	0.975	P	0.54372	0.75	T	0.82238	-0.0556	10	0.27785	T	0.31	-11.2854	10.3854	0.44136	0.0984:0.0:0.9016:0.0	.	198	O43186	CRX_HUMAN	T	198	ENSP00000221996:A198T;ENSP00000445565:A198T	ENSP00000221996:A198T	A	+	1	0	0	CRX	53034728	53034728	0.998000	0.40836	0.042000	0.18584	0.312000	0.27988	3.493000	0.53266	0.860000	0.35481	0.467000	0.42956	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_000554			161	160		584	574	1		1			0	0	83	0		1	0	0	0	0	0	0	161	584
PLIN3	10226	broad.mit.edu	37	19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000221957.4	-	7	1111	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L|PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	312					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597																																						ENST00000221957.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994668	0.990000	1.000000																										0				9						c.(934-936)cCc>cTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						33.0	28.0	30.0					19																	4844705		2203	4300	6503	SO:0001583	missense	10226	0	0					g.chr19:4844705G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.935C>T	chr19.hg19:g.4844705G>A	ENSP00000221957:p.Pro312Leu	0					PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L|PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L	p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	1	2	3	2.010022	O60664	PLIN3_HUMAN		7	1111	-			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	1	1	hg19	c.935C>T	CCDS12137.1	1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392630	0.25118	.	.	ENSG00000105355	ENST00000221957	T	0.05199	3.48	4.07	1.79	0.24919	4.07	1.79	0.24919	.	1.707180	0.03546	U	0.224768	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B;B;B	0.23249	0.028;0.082;0.035	B;B;B	0.24394	0.031;0.023;0.053	T	0.45234	-0.9275	10	0.36615	T	0.2	-25.0203	12.0524	0.53513	0.0:0.3346:0.6654:0.0	.	312;129;312	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	L	312	ENSP00000221957:P312L	ENSP00000221957:P312L	P	-	2	0	0	PLIN3	4795705	4795705	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.226000	0.09139	0.334000	0.23590	0.561000	0.74099	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.275260	1	0.170000	NM_005817			11	11		65	63	1		1	1		0	0	19	0		9.985504e-01	1	0	319	0	585	0	11	65
PLIN3	10226	broad.mit.edu	37	19	4847718	4847718	+	Silent	SNP	C	C	T	rs371698315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000221957.4	-	6	995	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_ENST00000585479.1_Silent_p.S273S|PLIN3_ENST00000592528.1_Silent_p.S261S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	273					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657																																						ENST00000221957.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999358	0.990000	1.000000																										0				9						c.(817-819)tcG>tcA		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	,,	0,4396		0,0,2198	22.0	19.0	20.0		819,783,819	-8.8	0.0	19		20	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	273/434,261/423,273/435	4847718	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	10226	6	121262	36				g.chr19:4847718C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.819G>A	chr19.hg19:g.4847718C>T		0					PLIN3_ENST00000592528.1_Silent_p.S261S|PLIN3_ENST00000585479.1_Silent_p.S273S	p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	1	2	3	2.010022	O60664	PLIN3_HUMAN		6	995	-			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	1	1	hg19	c.819G>A	CCDS12137.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.999870	1	0.170000	NM_005817			13	13		57	57	1		1	1		0	0	17	0		9.997097e-01	1	0	265	0	488	0	13	57
PLIN3	10226	broad.mit.edu	37	19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	rs146856306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000221957.4	-	6	819	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	215					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999841	0.990000	1.000000																										0				9						c.(643-645)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	40.0	32.0	34.0		643,607,643	2.1	0.8	19	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	58,58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	215/434,203/423,215/435	4847894	3,13003	2203	4300	6503	SO:0001583	missense	10226	1	121410	35				g.chr19:4847894C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.643G>A	chr19.hg19:g.4847894C>T	ENSP00000221957:p.Ala215Thr	0					PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T	p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	1	2	3	2.010022	O60664	PLIN3_HUMAN		6	819	-			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	1	1	hg19	c.643G>A	CCDS12137.1	1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022869	0.54683	0.0	3.49E-4	ENSG00000105355	ENST00000221957	T	0.28255	1.62	4.41	2.14	0.27477	4.41	2.14	0.27477	.	0.185373	0.34291	U	0.004087	T	0.44540	0.1298	M	0.84082	2.675	0.51233	D	0.999911	D;P;D	0.60575	0.985;0.951;0.988	P;B;P	0.52627	0.579;0.32;0.704	T	0.49916	-0.8888	10	0.87932	D	0	-28.6311	8.6119	0.33808	0.1512:0.7668:0.0:0.082	.	215;32;215	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	T	215	ENSP00000221957:A215T	ENSP00000221957:A215T	A	-	1	0	0	PLIN3	4798894	4798894	0.998000	0.40836	0.766000	0.31476	0.083000	0.17756	4.092000	0.57707	0.861000	0.35504	0.511000	0.50034	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_005817			21	21		107	105	1		1	1		0	0	26	0		9.999985e-01	1	0	260	0	572	0	21	107
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					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)			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)	CATAACTCAGTAACAGGAAGT	0.463																																						ENST00000222002.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(541-543)ttA>ttG		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	Abiraterone(DB05812)|Acetaminophen(DB00316)						201.0	197.0	198.0					19																	48382317		2203	4300	6503	SO:0001819	synonymous_variant	6822	0	0					g.chr19:48382317T>C	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.543A>G	chr19.hg19:g.48382317T>C		0						p.L181L	NM_003167.3	NP_003158.2	1	2	3	2.010022	Q06520	ST2A1_HUMAN		4	682	-		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)		Silent	SNP	ENST00000222002.3	1	1	hg19	c.543A>G	CCDS12707.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_003167			148	146		673	656	1		1			0	0	177	0		1	0	0	0	0	0	0	148	673
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	167					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221957.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.986705	0.990000	1.000000																										0				9						c.(499-501)tCc>tTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77.0	58.0	64.0					19																	4852162		2203	4300	6503	SO:0001583	missense	10226	0	0					g.chr19:4852162G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.500C>T	chr19.hg19:g.4852162G>A	ENSP00000221957:p.Ser167Phe	0		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F|PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F	p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	1	2	3	2.010022	O60664	PLIN3_HUMAN		5	676	-			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	1	1	hg19	c.500C>T	CCDS12137.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532738	0.45073	.	.	ENSG00000105355	ENST00000221957	T	0.04275	3.66	4.95	2.69	0.31865	4.95	2.69	0.31865	.	0.679439	0.14052	U	0.344650	T	0.23766	0.0575	M	0.83953	2.67	0.35540	D	0.802987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.28964	-1.0027	10	0.87932	D	0	-11.6118	14.4207	0.67180	0.0:0.2818:0.7182:0.0	.	167;167	O60664-3;O60664	.;PLIN3_HUMAN	F	167	ENSP00000221957:S167F	ENSP00000221957:S167F	S	-	2	0	0	PLIN3	4803162	4803162	0.976000	0.34144	0.095000	0.20976	0.014000	0.08584	2.719000	0.47244	0.425000	0.26087	0.555000	0.69702	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_005817			21	21		177	174	1		1	1		0	0	40	0		9.999980e-01	1	0	130	0	600	0	21	177
ELSPBP1	64100	broad.mit.edu	37	19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A	rs370140212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463																																						ENST00000339841.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(217-219)cGc>cAc		epididymal sperm binding protein 1		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	85.0	93.0		218	2.3	0.8	19		93	0,8600		0,0,4300	no	missense	ELSPBP1	NM_022142.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	73/224	48519159	1,13005	2203	4300	6503	SO:0001583	missense	64100	8	121412	40				g.chr19:48519159G>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.218G>A	chr19.hg19:g.48519159G>A	ENSP00000340660:p.Arg73His	0					ELSPBP1_ENST00000597519.1_Intron	p.R73H	NM_022142.4	NP_071425.3	1	2	3	2.010022	Q96BH3	ESPB1_HUMAN		4	396	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	1	1	hg19	c.218G>A	CCDS12708.1	1	.	.	.	.	.	.	.	.	.	.	g	8.098	0.776018	0.16051	2.27E-4	0.0	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.4	2.35	0.29111	3.4	2.35	0.29111	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.09555	0.0235	M	0.62016	1.91	0.19945	N	0.999947	P	0.44521	0.837	B	0.38106	0.265	T	0.22312	-1.0220	10	0.15952	T	0.53	.	7.4446	0.27203	0.1314:0.0:0.8686:0.0	.	73	Q96BH3	ESPB1_HUMAN	H	73	ENSP00000340660:R73H	ENSP00000340660:R73H	R	+	2	0	0	ELSPBP1	53210971	53210971	0.746000	0.28272	0.802000	0.32245	0.261000	0.26267	0.922000	0.28734	0.710000	0.31997	-0.246000	0.11932	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				54	54		161	157	1		1			0	0	53	0		1	0	0	0	0	0	0	54	161
PLIN3	10226	broad.mit.edu	37	19	4859664	4859664	+	Missense_Mutation	SNP	C	C	T	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	ENST00000221957.4	-	4	462	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	96					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCTGTGGGCGTATTCGCTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				9						c.(286-288)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77.0	69.0	71.0					19																	4859664		2203	4300	6503	SO:0001583	missense	10226	2	121412	35				g.chr19:4859664C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.286G>A	chr19.hg19:g.4859664C>T	ENSP00000221957:p.Ala96Thr	0					PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T	p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	1	2	3	2.010022	O60664	PLIN3_HUMAN		4	462	-			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	0	1	hg19	c.286G>A	CCDS12137.1	1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753824	0.69648	.	.	ENSG00000105355	ENST00000221957	T	0.09538	2.97	4.2	4.2	0.49525	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.87269	2.87	0.50467	D	0.99987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49844	-0.8896	10	0.87932	D	0	-18.4431	16.2945	0.82763	0.0:1.0:0.0:0.0	.	96;96	O60664-3;O60664	.;PLIN3_HUMAN	T	96	ENSP00000221957:A96T	ENSP00000221957:A96T	A	-	1	0	0	PLIN3	4810664	4810664	1.000000	0.71417	0.614000	0.29051	0.117000	0.20001	5.674000	0.68117	2.161000	0.67846	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	0	0	1		21	47	2	1		1	1	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005817			43	41		253	251	0		1	1		1	0	43	0		9.986551e-01	9.999972e-01	0	267	0	536	0	43	253
ELSPBP1	64100	broad.mit.edu	37	19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	128	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTCAGGAAGCCCTGCATCTT	0.443																																						ENST00000339841.2	1.000000	0.390000	8.800000e-01	5.100000e-01	0.660000	0.693145	0.660000	0.630000																										0				10						c.(382-384)Ccc>Acc		epididymal sperm binding protein 1							89.0	83.0	85.0					19																	48523002		2203	4300	6503	SO:0001583	missense	64100	0	0					g.chr19:48523002C>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.382C>A	chr19.hg19:g.48523002C>A	ENSP00000340660:p.Pro128Thr	0					ELSPBP1_ENST00000597519.1_Intron	p.P128T	NM_022142.4	NP_071425.3	1	2	3	2.010022	Q96BH3	ESPB1_HUMAN		5	560	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	1	1	hg19	c.382C>A	CCDS12708.1	0	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535607	0.27475	.	.	ENSG00000169393	ENST00000339841	T	0.09911	2.93	3.76	2.71	0.32032	3.76	2.71	0.32032	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.128105	0.35320	N	0.003283	T	0.13756	0.0333	M	0.87758	2.905	0.26877	N	0.967623	P	0.39551	0.678	B	0.30572	0.117	T	0.20140	-1.0284	10	0.62326	D	0.03	.	7.6932	0.28579	0.0:0.8752:0.0:0.1248	.	128	Q96BH3	ESPB1_HUMAN	T	128	ENSP00000340660:P128T	ENSP00000340660:P128T	P	+	1	0	0	ELSPBP1	53214814	53214814	0.996000	0.38824	0.998000	0.56505	0.504000	0.33889	0.777000	0.26718	0.870000	0.35726	0.561000	0.74099	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.051410	1	0.170000				17	17		296	294	0		1			0	0	48	0		9.999669e-01	0	0	0	0	0	0	17	296
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000599921.1	-	7	1000	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	215	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			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)		AATTTGCTTCCGAAGTGGGTT	0.542																																						ENST00000599921.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(643-645)Gga>Aga		phospholipase A2, group IVC (cytosolic, calcium-independent)							122.0	139.0	134.0					19																	48598787		2203	4300	6503	SO:0001583	missense	8605	1	121412	25				g.chr19:48598787C>T	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.643G>A	chr19.hg19:g.48598787C>T	ENSP00000469473:p.Gly215Arg	0					PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G215R	p.G215R			1	2	3	2.010022	Q9UP65	PA24C_HUMAN		7	1000	-		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)	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	1	1	hg19	c.643G>A	CCDS12710.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401579	0.83120	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	3.31	3.31	0.37934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	U	0.000002	T	0.70954	0.3283	M	0.90082	3.085	0.34797	D	0.736353	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-13.7198	10.4531	0.44535	0.0:1.0:0.0:0.0	.	225;215	B4DI40;Q9UP65	.;PA24C_HUMAN	R	215	ENSP00000346228:G215R;ENSP00000400036:G215R	ENSP00000346228:G215R	G	-	1	0	0	PLA2G4C	53290599	53290599	1.000000	0.71417	0.678000	0.29963	0.839000	0.47603	3.119000	0.50422	1.553000	0.49476	0.205000	0.17691	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1	1	0	1		17	2	2	1		1	1	226		226	223	1	2.060000	-3.270060	1	0.170000				204	201		841	822	1		1	0		1	0	226	0		1	9.910149e-01	0	1	0	31	0	204	841
CARD8	22900	broad.mit.edu	37	19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T	rs540915752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000359009.4	-	7	1052	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CARD8_ENST00000520153.1_Missense_Mutation_p.R303H|CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	247					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)			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)		ACCATGGAAGCGATCTTCCTC	0.428																																						ENST00000359009.4	1.000000	0.310000	8.000000e-01	4.200000e-01	0.570000	0.613635	0.570000	0.540000																										0				15						c.(739-741)cGc>cAc		caspase recruitment domain family, member 8							67.0	63.0	64.0					19																	48725090		2203	4300	6503	SO:0001583	missense	22900	0	0					g.chr19:48725090C>T	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.740G>A	chr19.hg19:g.48725090C>T	ENSP00000351901:p.Arg247His	0					CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H	p.R247H			1	2	3	2.010022	Q9Y2G2	CARD8_HUMAN		7	1052	-		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)	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	1	1	hg19	c.740G>A		0	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243606	0.39697	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	2.3	-4.61	0.03380	2.3	-4.61	0.03380	.	.	.	.	.	T	0.25865	0.0630	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.998;0.998	P;D;D;P;P;P;P	0.64144	0.864;0.922;0.922;0.872;0.786;0.786;0.783	T	0.15752	-1.0426	9	0.66056	D	0.02	.	5.7338	0.18055	0.0:0.2121:0.1655:0.6223	.	272;353;353;353;303;247;247	B5KVR7;E9PEM7;B5KVR6;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;CARD8_HUMAN	H	78;303;353;247;353;303;353;303;353	ENSP00000350423:R78H;ENSP00000391248:R303H;ENSP00000375767:R353H;ENSP00000351901:R247H;ENSP00000429839:R353H;ENSP00000428736:R303H;ENSP00000430747:R353H;ENSP00000427858:R303H;ENSP00000428883:R353H	ENSP00000350423:R78H	R	-	2	0	0	CARD8	53416902	53416902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.582000	0.05814	-1.532000	0.01747	-0.218000	0.12543	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-4.603692	1	0.170000	NM_014959			12	12		247	240	0		1	0		0	0	51	0		9.990290e-01	7.366742e-01	0	1	0	54	0	12	247
ZNF114	163071	broad.mit.edu	37	19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114	21	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)			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)		GAGGAGTGGACCCTGCTGGAC	0.512																																						ENST00000595607.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(61-63)aCc>aTc		zinc finger protein 114							138.0	138.0	138.0					19																	48785680		2203	4300	6503	SO:0001583	missense	163071	0	0					g.chr19:48785680C>T	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.62C>T	chr19.hg19:g.48785680C>T	ENSP00000469998:p.Thr21Ile	0					ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I	p.T21I			1	2	3	2.010022	Q8NC26	ZN114_HUMAN		5	556	+		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)	A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	1	1	hg19	c.62C>T	CCDS12713.1	1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805445	0.16467	.	.	ENSG00000178150	ENST00000315849	T	0.01787	4.64	2.26	1.16	0.20824	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.03608	0.0103	L	0.41961	1.31	0.09310	N	1	D	0.59357	0.985	P	0.55749	0.783	T	0.47394	-0.9121	9	0.39692	T	0.17	.	6.6534	0.22975	0.5111:0.4889:0.0:0.0	.	21	Q8NC26	ZN114_HUMAN	I	21	ENSP00000318898:T21I	ENSP00000318898:T21I	T	+	2	0	0	ZNF114	53477492	53477492	0.001000	0.12720	0.107000	0.21349	0.464000	0.32679	0.005000	0.13129	0.495000	0.27882	0.205000	0.17691	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_153608			134	133		653	642	1		1	1		0	0	171	0		1	7.833994e-01	0	6	0	10	0	134	653
CCDC114	93233	broad.mit.edu	37	19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	640	Ser-rich.				outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCCGAGGCCTCCGCTCGAATC	0.662																																						ENST00000315396.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1918-1920)gGa>gAa		coiled-coil domain containing 114							65.0	64.0	64.0					19																	48800327		2203	4300	6503	SO:0001583	missense	93233	0	0					g.chr19:48800327C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1919G>A	chr19.hg19:g.48800327C>T	ENSP00000318429:p.Gly640Glu	0						p.G640E	NM_144577.3	NP_653178.3	1	2	3	2.010022	Q96M63	CC114_HUMAN		14	2601	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	1	1	hg19	c.1919G>A	CCDS12714.2	1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969332	0.53614	.	.	ENSG00000105479	ENST00000315396	T	0.26518	1.73	3.6	2.56	0.30785	3.6	2.56	0.30785	.	.	.	.	.	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	D	0.63046	0.992	P	0.51806	0.68	T	0.06972	-1.0797	9	0.56958	D	0.05	-3.013	5.9822	0.19413	0.0:0.8585:0.0:0.1415	.	640	Q96M63	CC114_HUMAN	E	640	ENSP00000318429:G640E	ENSP00000318429:G640E	G	-	2	0	0	CCDC114	53492139	53492139	0.584000	0.26766	0.115000	0.21578	0.012000	0.07955	0.856000	0.27818	1.931000	0.55961	0.655000	0.94253	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_144577			82	81		418	409	1		1	0		0	0	97	0		1	7.352037e-02	0	1	0	2	0	82	418
CCDC114	93233	broad.mit.edu	37	19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A	rs372889077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622																																						ENST00000315396.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T577M(1)|p.T370M(1)	cervix(2)	24						c.(1729-1731)aCg>aTg		coiled-coil domain containing 114							55.0	51.0	53.0					19																	48800516		2203	4300	6503	SO:0001583	missense	93233	1	121410	33				g.chr19:48800516G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1730C>T	chr19.hg19:g.48800516G>A	ENSP00000318429:p.Thr577Met	0						p.T577M	NM_144577.3	NP_653178.3	1	2	3	2.010022	Q96M63	CC114_HUMAN		14	2412	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	1	1	hg19	c.1730C>T	CCDS12714.2	1	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	0	CCDC114	53492328	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-20.000000	1	0.170000	NM_144577			63	63		276	267	1		1	0		0	0	59	0		1	9.278060e-02	0	0	0	3	0	63	276
CCDC114	93233	broad.mit.edu	37	19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	306					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGTTCTGCTCGTTGATGAAG	0.592																																						ENST00000315396.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(916-918)Gag>Aag		coiled-coil domain containing 114							129.0	113.0	118.0					19																	48806314		2203	4300	6503	SO:0001583	missense	93233	0	0					g.chr19:48806314C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.916G>A	chr19.hg19:g.48806314C>T	ENSP00000318429:p.Glu306Lys	0						p.E306K	NM_144577.3	NP_653178.3	1	2	3	2.010022	Q96M63	CC114_HUMAN		9	1598	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	1	1	hg19	c.916G>A	CCDS12714.2	1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268026	0.59540	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.87	3.87	0.44632	3.87	3.87	0.44632	.	.	.	.	.	T	0.59473	0.2196	M	0.81497	2.545	0.43399	D	0.995523	D;D;D	0.76494	0.999;0.991;0.991	D;B;P	0.76071	0.987;0.41;0.61	T	0.65092	-0.6252	9	0.72032	D	0.01	-17.7125	11.7482	0.51832	0.0:1.0:0.0:0.0	.	99;306;306	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	306	ENSP00000318429:E306K	ENSP00000318429:E306K	E	-	1	0	0	CCDC114	53498126	53498126	0.978000	0.34361	0.970000	0.41538	0.656000	0.38851	2.611000	0.46334	1.912000	0.55364	0.536000	0.68110	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-2.722109	1	0.170000	NM_144577			60	58		328	319	1		1	0		0	0	75	0		1	1.188693e-01	0	1	0	3	0	60	328
CCDC114	93233	broad.mit.edu	37	19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	268					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGGCGTCCTCGTAGCAAAGC	0.632																																						ENST00000315396.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(802-804)Gag>Aag		coiled-coil domain containing 114							89.0	87.0	88.0					19																	48806982		2203	4300	6503	SO:0001583	missense	93233	0	0					g.chr19:48806982C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.802G>A	chr19.hg19:g.48806982C>T	ENSP00000318429:p.Glu268Lys	0						p.E268K	NM_144577.3	NP_653178.3	1	2	3	2.010022	Q96M63	CC114_HUMAN		8	1484	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	1	1	hg19	c.802G>A	CCDS12714.2	1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323115	0.41096	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.02	1.94	0.25998	3.02	1.94	0.25998	.	.	.	.	.	T	0.44623	0.1302	M	0.66378	2.025	0.34629	D	0.719466	D;D;D	0.71674	0.998;0.987;0.995	P;P;P	0.54706	0.676;0.661;0.759	T	0.54788	-0.8241	9	0.34782	T	0.22	-17.9378	7.9692	0.30117	0.0:0.7455:0.2545:0.0	.	61;268;268	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	268	ENSP00000318429:E268K	ENSP00000318429:E268K	E	-	1	0	0	CCDC114	53498794	53498794	0.869000	0.29996	0.482000	0.27366	0.216000	0.24613	1.399000	0.34566	0.583000	0.29574	-0.182000	0.12963	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.174120	1	0.170000	NM_144577			122	119		474	468	1		1	0		0	0	103	0		1	0	0	1	0	0	0	122	474
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597																																						ENST00000344846.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(124-126)ctG>ctA		synaptogyrin 4							109.0	99.0	103.0					19																	48876806		2203	4300	6503	SO:0001819	synonymous_variant	23546	0	0					g.chr19:48876806G>A	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.126G>A	chr19.hg19:g.48876806G>A		0					SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	p.L42L	NM_012451.3	NP_036583.2	1	2	3	2.010022	O95473	SNG4_HUMAN		3	376	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Q3KP58	Silent	SNP	ENST00000344846.2	1	1	hg19	c.126G>A	CCDS12717.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-3.165979	1	0.170000				89	85		382	375	1		1	0		0	0	91	0		1	5.904977e-01	0	1	0	9	0	89	382
SYNGR4	23546	broad.mit.edu	37	19	48879469	48879469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48879469A>G	ENST00000344846.2	+	5	849	c.599A>G	c.(598-600)aAc>aGc	p.N200S	SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	200						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCCCTGTGAACATGCCCACC	0.607																																						ENST00000344846.2	1.000000	0.090000	3.300000e-01	1.400000e-01	0.210000	0.286779	0.210000	0.200000																										0				10						c.(598-600)aAc>aGc		synaptogyrin 4							158.0	120.0	133.0					19																	48879469		2203	4300	6503	SO:0001583	missense	23546	0	0					g.chr19:48879469A>G	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.599A>G	chr19.hg19:g.48879469A>G	ENSP00000344041:p.Asn200Ser	0					SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	p.N200S	NM_012451.3	NP_036583.2	1	2	3	2.010022	O95473	SNG4_HUMAN		5	849	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	0	1	hg19	c.599A>G	CCDS12717.1	0	.	.	.	.	.	.	.	.	.	.	A	1.842	-0.467137	0.04476	.	.	ENSG00000105467	ENST00000344846	T	0.45276	0.9	5.51	-0.499	0.12015	5.51	-0.499	0.12015	.	1.158960	0.06182	N	0.679615	T	0.28466	0.0704	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.22661	-1.0210	10	0.17832	T	0.49	-32.1086	5.5627	0.17152	0.4274:0.2954:0.2771:0.0	.	200	O95473	SNG4_HUMAN	S	200	ENSP00000344041:N200S	ENSP00000344041:N200S	N	+	2	0	0	SYNGR4	53571281	53571281	0.039000	0.19947	0.002000	0.10522	0.031000	0.12232	0.555000	0.23422	-0.075000	0.12798	0.454000	0.30748	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.100563	1	0.170000				8	8		462	441	0		1	0		0	0	79	0		9.873523e-01	1.190664e-03	0	0	0	3	0	8	462
GRIN2D	2906	broad.mit.edu	37	19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	310					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCGCTCGGCTGGCTGGCG	0.711																																						ENST00000263269.3	1.000000	0.380000	1	5.900000e-01	0.860000	0.820032	0.860000	1.000000																										0				37						c.(928-930)Gct>Act		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						10.0	13.0	12.0					19																	48908453		2153	4209	6362	SO:0001583	missense	2906	0	0					g.chr19:48908453G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.928G>A	chr19.hg19:g.48908453G>A	ENSP00000263269:p.Ala310Thr	0						p.A310T	NM_000836.2	NP_000827.2	1	2	3	2.010022	O15399	NMDE4_HUMAN		3	1016	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Missense_Mutation	SNP	ENST00000263269.3	0	1	hg19	c.928G>A	CCDS12719.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231789	0.58777	.	.	ENSG00000105464	ENST00000263269	T	0.05382	3.45	4.45	4.45	0.53987	4.45	4.45	0.53987	Extracellular ligand-binding receptor (1);	0.161142	0.40728	N	0.001033	T	0.11793	0.0287	N	0.22421	0.69	0.39742	D	0.971764	P	0.51791	0.948	P	0.57371	0.819	T	0.13202	-1.0518	10	0.56958	D	0.05	.	16.2466	0.82448	0.0:0.0:1.0:0.0	.	310	O15399	NMDE4_HUMAN	T	310	ENSP00000263269:A310T	ENSP00000263269:A310T	A	+	1	0	0	GRIN2D	53600265	53600265	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.893000	0.87330	2.199000	0.70637	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1		2	2	2	0		0	0	12		12	8	1	2.060000	-11.722970	1	0.170000				7	4		95	74	0		1	0		0	0	12	0		9.551484e-01	1.537875e-01	0	1	0	8	0	7	95
GRIN2D	2906	broad.mit.edu	37	19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGCACCCACCGCGGCGAGAG	0.622																																						ENST00000263269.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				37						c.(1066-1068)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						15.0	17.0	16.0					19																	48908591		2201	4294	6495	SO:0001583	missense	2906	1	121190	19				g.chr19:48908591C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1066C>T	chr19.hg19:g.48908591C>T	ENSP00000263269:p.Arg356Cys	0						p.R356C	NM_000836.2	NP_000827.2	1	2	3	2.010022	O15399	NMDE4_HUMAN		3	1154	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Missense_Mutation	SNP	ENST00000263269.3	1	1	hg19	c.1066C>T	CCDS12719.1	1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134044	0.56828	.	.	ENSG00000105464	ENST00000263269	T	0.16073	2.37	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.17874	0.0429	L	0.44542	1.39	0.37251	D	0.906555	D	0.71674	0.998	P	0.48654	0.585	T	0.05468	-1.0883	10	0.56958	D	0.05	.	5.8638	0.18762	0.1928:0.7069:0.0:0.1002	.	356	O15399	NMDE4_HUMAN	C	356	ENSP00000263269:R356C	ENSP00000263269:R356C	R	+	1	0	0	GRIN2D	53600403	53600403	0.238000	0.23825	1.000000	0.80357	0.915000	0.54546	1.184000	0.32053	2.116000	0.64780	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				22	22		78	76	1		1	1		0	0	14	0		9.999994e-01	9.864290e-01	0	8	0	20	0	22	78
GRIN2D	2906	broad.mit.edu	37	19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	667					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTTCGCCGTCATCTTCCT	0.592																																						ENST00000263269.3	1.000000	0.850000	1	9.600000e-01	0.990000	0.984783	0.990000	1.000000																										0				37						c.(1999-2001)Gtc>Atc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						132.0	118.0	123.0					19																	48922979		2203	4300	6503	SO:0001583	missense	2906	0	0					g.chr19:48922979G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1999G>A	chr19.hg19:g.48922979G>A	ENSP00000263269:p.Val667Ile	0						p.V667I	NM_000836.2	NP_000827.2	1	2	3	2.010022	O15399	NMDE4_HUMAN		9	2087	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Missense_Mutation	SNP	ENST00000263269.3	1	1	hg19	c.1999G>A	CCDS12719.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139824	0.94560	.	.	ENSG00000105464	ENST00000263269	T	0.52057	0.68	4.57	4.57	0.56435	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.73251	-0.4042	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	667	O15399	NMDE4_HUMAN	I	667	ENSP00000263269:V667I	ENSP00000263269:V667I	V	+	1	0	0	GRIN2D	53614791	53614791	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	0	0	1		18	3	2	1		1	1	151		151	150	1	2.060000	-3.075755	1	0.170000				74	72		742	727	1		1	1		1	0	151	0		1	9.187867e-01	0	11	0	50	0	74	742
GRIN2D	2906	broad.mit.edu	37	19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	765					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCTCAATTACATGGCCCG	0.637																																						ENST00000263269.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2293-2295)Tac>Cac		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						64.0	51.0	56.0					19																	48945066		2203	4300	6503	SO:0001583	missense	2906	0	0					g.chr19:48945066T>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2293T>C	chr19.hg19:g.48945066T>C	ENSP00000263269:p.Tyr765His	0						p.Y765H	NM_000836.2	NP_000827.2	1	2	3	2.010022	O15399	NMDE4_HUMAN		11	2381	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Missense_Mutation	SNP	ENST00000263269.3	1	1	hg19	c.2293T>C	CCDS12719.1	1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398480	0.62177	.	.	ENSG00000105464	ENST00000263269	T	0.56611	0.45	4.62	4.62	0.57501	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	10	0.87932	D	0	.	13.4795	0.61328	0.0:0.0:0.0:1.0	.	765	O15399	NMDE4_HUMAN	H	765	ENSP00000263269:Y765H	ENSP00000263269:Y765H	Y	+	1	0	0	GRIN2D	53636878	53636878	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.860000	0.86993	2.090000	0.63153	0.374000	0.22700	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				50	49		188	186	1		1	1		0	0	52	0		1	9.999394e-01	0	26	0	32	0	50	188
GRIN2D	2906	broad.mit.edu	37	19	48945465	48945465	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	833					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGACAAAATCGAGGTGATGA	0.582																																						ENST00000263269.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2497-2499)atC>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						157.0	151.0	153.0					19																	48945465		2203	4300	6503	SO:0001819	synonymous_variant	2906	0	0					g.chr19:48945465C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2499C>T	chr19.hg19:g.48945465C>T		0						p.I833I	NM_000836.2	NP_000827.2	1	2	3	2.010022	O15399	NMDE4_HUMAN		12	2587	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Silent	SNP	ENST00000263269.3	1	1	hg19	c.2499C>T	CCDS12719.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	0	0	1		18	2	2	1		1	1	203		203	200	1	2.060000	-20.000000	1	0.170000				206	202		835	807	0		1	1		1	0	203	0		1	9.991632e-01	0	13	0	31	0	206	835
GRWD1	83743	broad.mit.edu	37	19	48953707	48953707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	202						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657																																						ENST00000253237.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(604-606)gcC>gcT		glutamate-rich WD repeat containing 1							70.0	73.0	72.0					19																	48953707		2203	4300	6503	SO:0001819	synonymous_variant	83743	0	0					g.chr19:48953707C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.606C>T	chr19.hg19:g.48953707C>T		0						p.A202A	NM_031485.3	NP_113673.3	1	2	3	2.010022	Q9BQ67	GRWD1_HUMAN		4	839	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	Q8TF59	Silent	SNP	ENST00000253237.5	1	1	hg19	c.606C>T	CCDS12720.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.344067	1	0.170000	NM_031485			84	83		407	402	1		1	1		0	0	87	0		1	1	0	39	0	102	0	84	407
GRWD1	83743	broad.mit.edu	37	19	48953963	48953963	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	241						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637																																						ENST00000253237.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(721-723)ctC>ctA		glutamate-rich WD repeat containing 1							48.0	44.0	45.0					19																	48953963		2203	4300	6503	SO:0001819	synonymous_variant	83743	0	0					g.chr19:48953963C>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.723C>A	chr19.hg19:g.48953963C>A		0						p.L241L	NM_031485.3	NP_113673.3	1	2	3	2.010022	Q9BQ67	GRWD1_HUMAN		5	956	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	Q8TF59	Silent	SNP	ENST00000253237.5	1	1	hg19	c.723C>A	CCDS12720.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_031485			63	60		261	259	1		1	1		0	0	44	0		1	1	0	43	0	87	0	63	261
GRWD1	83743	broad.mit.edu	37	19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	354						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGCACGTGGCCCCCGTGAC	0.652																																						ENST00000253237.5	1.000000	0.350000	6.800000e-01	4.300000e-01	0.530000	0.575106	0.530000	0.520000																										0				19						c.(1060-1062)Gcc>Acc		glutamate-rich WD repeat containing 1							67.0	65.0	66.0					19																	48956001		2203	4300	6503	SO:0001583	missense	83743	0	0					g.chr19:48956001G>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1060G>A	chr19.hg19:g.48956001G>A	ENSP00000253237:p.Ala354Thr	0					KCNJ14_ENST00000342291.2_5'Flank	p.A354T	NM_031485.3	NP_113673.3	1	2	3	2.010022	Q9BQ67	GRWD1_HUMAN		7	1293	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	1	1	hg19	c.1060G>A	CCDS12720.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.195000	0.94960	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181454	0.46145	D	0.000309	T	0.73055	0.3538	M	0.87269	2.87	0.58432	D	0.999998	P	0.44281	0.831	P	0.51974	0.686	T	0.70930	-0.4738	10	0.19147	T	0.46	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	354	Q9BQ67	GRWD1_HUMAN	T	354	ENSP00000253237:A354T	ENSP00000253237:A354T	A	+	1	0	0	GRWD1	53647813	53647813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	2.686000	0.91538	0.561000	0.74099	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-4.695552	1	0.170000	NM_031485			25	25		542	533	0		1	1		0	0	101	0		9.999998e-01	9.555321e-01	0	8	0	105	0	25	542
GRWD1	83743	broad.mit.edu	37	19	48956239	48956239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956239C>T	ENST00000253237.5	+	7	1531	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	433						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTCAGCACGGCGCTGTCA	0.632																																						ENST00000253237.5	1.000000	0.110000	3.400000e-01	1.600000e-01	0.230000	0.300314	0.230000	0.220000																										0				19						c.(1297-1299)aCg>aTg		glutamate-rich WD repeat containing 1							43.0	47.0	45.0					19																	48956239		2203	4300	6503	SO:0001583	missense	83743	1	121358	20				g.chr19:48956239C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1298C>T	chr19.hg19:g.48956239C>T	ENSP00000253237:p.Thr433Met	0					KCNJ14_ENST00000342291.2_5'Flank	p.T433M	NM_031485.3	NP_113673.3	1	2	3	2.010022	Q9BQ67	GRWD1_HUMAN		7	1531	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	0	1	hg19	c.1298C>T	CCDS12720.1	0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319539	0.81469	.	.	ENSG00000105447	ENST00000253237	T	0.01379	4.96	4.93	4.93	0.64822	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123114	0.53938	D	0.000055	T	0.13586	0.0329	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01776	-1.1276	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	433	Q9BQ67	GRWD1_HUMAN	M	433	ENSP00000253237:T433M	ENSP00000253237:T433M	T	+	2	0	0	GRWD1	53648051	53648051	1.000000	0.71417	0.979000	0.43373	0.668000	0.39293	5.211000	0.65219	2.449000	0.82847	0.561000	0.74099	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-7.996848	1	0.170000	NM_031485			10	10		530	523	0		1	1		0	0	75	0		9.967197e-01	6.145187e-01	0	2	0	105	0	10	530
KCNJ14	3770	broad.mit.edu	37	19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	51					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CGCCGCGGTCGCTTCGTCAAG	0.701																																					NSCLC(148;170 3504 35216)	ENST00000391884.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				10						c.(151-153)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 14	Yohimbine(DB01392)						31.0	22.0	25.0					19																	48965133		2196	4295	6491	SO:0001583	missense	3770	0	0					g.chr19:48965133G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.152G>A	chr19.hg19:g.48965133G>A	ENSP00000375756:p.Arg51His	0					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H	p.R51H			1	2	3	2.010022	Q9UNX9	KCJ14_HUMAN		1	628	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Missense_Mutation	SNP	ENST00000391884.1	1	1	hg19	c.152G>A	CCDS12721.1	1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517175	0.64634	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94862	-3.54;-3.54	4.36	2.15	0.27550	4.36	2.15	0.27550	.	0.357017	0.28262	N	0.016000	D	0.92133	0.7506	N	0.08118	0	0.47065	D	0.999305	D	0.89917	1.0	D	0.97110	1.0	D	0.90891	0.4761	10	0.87932	D	0	.	8.9956	0.36050	0.0:0.162:0.6701:0.1679	.	51	Q9UNX9	IRK14_HUMAN	H	51	ENSP00000341479:R51H;ENSP00000375756:R51H	ENSP00000341479:R51H	R	+	2	0	0	KCNJ14	53656945	53656945	1.000000	0.71417	0.981000	0.43875	0.254000	0.26022	9.436000	0.97532	0.553000	0.29044	-0.165000	0.13383	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_013348			17	15		55	55	0		1			0	0	15	0		9.999809e-01	0	0	0	0	0	0	17	55
KCNJ14	3770	broad.mit.edu	37	19	48965137	48965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	52					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GCGGTCGCTTCGTCAAGAAAG	0.706																																					NSCLC(148;170 3504 35216)	ENST00000391884.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				10						c.(154-156)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 14	Yohimbine(DB01392)						33.0	24.0	27.0					19																	48965137		2201	4298	6499	SO:0001819	synonymous_variant	3770	0	0					g.chr19:48965137C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.156C>T	chr19.hg19:g.48965137C>T		0					KCNJ14_ENST00000342291.2_Silent_p.F52F	p.F52F			1	2	3	2.010022	Q9UNX9	KCJ14_HUMAN		1	632	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Silent	SNP	ENST00000391884.1	1	1	hg19	c.156C>T	CCDS12721.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_013348			16	16		64	62	0		1			0	0	18	0		9.999568e-01	0	0	0	0	0	0	16	64
KCNJ14	3770	broad.mit.edu	37	19	48965230	48965230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	83					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CATGCGTGGACGTGCGCTGGC	0.642																																					NSCLC(148;170 3504 35216)	ENST00000391884.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(247-249)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 14	Yohimbine(DB01392)						75.0	42.0	53.0					19																	48965230		2203	4300	6503	SO:0001819	synonymous_variant	3770	0	0					g.chr19:48965230C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.249C>T	chr19.hg19:g.48965230C>T		0					KCNJ14_ENST00000342291.2_Silent_p.D83D	p.D83D			1	2	3	2.010022	Q9UNX9	KCJ14_HUMAN		1	725	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Silent	SNP	ENST00000391884.1	1	1	hg19	c.249C>T	CCDS12721.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_013348			29	29		117	116	1		1			0	0	34	0		1	0	0	0	0	0	0	29	117
ARRDC5	645432	broad.mit.edu	37	19	4896836	4896836	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	116										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443																																						ENST00000381781.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(346-348)ccT>ccC		arrestin domain containing 5							156.0	152.0	153.0					19																	4896836		1936	4140	6076	SO:0001819	synonymous_variant	645432	0	0					g.chr19:4896836A>G		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.348T>C	chr19.hg19:g.4896836A>G		0						p.P116P	NM_001080523.1	NP_001073992.1	1	2	3	2.010022	A6NEK1	ARRD5_HUMAN		2	347	-				Silent	SNP	ENST00000381781.2	1	1	hg19	c.348T>C	CCDS45929.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	1	0	0		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	XM_292803			68	66		365	354	1		1	0		0	0	112	0		1	0	0	0	0	1	0	68	365
KCNJ14	3770	broad.mit.edu	37	19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	142					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCTCTTCGCGCTGGAGACGCA	0.721																																					NSCLC(148;170 3504 35216)	ENST00000391884.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.993173	0.990000	1.000000																										0				10						c.(424-426)Ctg>Atg		potassium inwardly-rectifying channel, subfamily J, member 14	Yohimbine(DB01392)						8.0	8.0	8.0					19																	48965405		2164	4221	6385	SO:0001583	missense	3770	0	0					g.chr19:48965405C>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.424C>A	chr19.hg19:g.48965405C>A	ENSP00000375756:p.Leu142Met	0					KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M	p.L142M			1	2	3	2.010022	Q9UNX9	KCJ14_HUMAN		1	900	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Missense_Mutation	SNP	ENST00000391884.1	0	1	hg19	c.424C>A	CCDS12721.1	1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723657	0.68959	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95069	-3.6;-3.6	4.69	4.69	0.59074	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.94653	0.8276	L	0.52573	1.65	0.50813	D	0.999895	P	0.46952	0.887	P	0.57548	0.823	D	0.94311	0.7545	10	0.72032	D	0.01	.	9.2025	0.37268	0.0:0.9:0.0:0.1	.	142	Q9UNX9	IRK14_HUMAN	M	142	ENSP00000341479:L142M;ENSP00000375756:L142M	ENSP00000341479:L142M	L	+	1	2	2	KCNJ14	53657217	53657217	0.006000	0.16342	1.000000	0.80357	0.972000	0.66771	0.017000	0.13399	2.323000	0.78572	0.591000	0.81541	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-19.980900	1	0.170000	NM_013348			9	9		50	50	1		1	0		0	0	14	0		9.954557e-01	0	0	0	0	1	0	9	50
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000452733.2	+	7	1089	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W			Q99418	CYH2_HUMAN	cytohesin 2	205					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637																																						ENST00000452733.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(613-615)Cgg>Tgg		cytohesin 2							102.0	86.0	91.0					19																	48977504		2203	4300	6503	SO:0001583	missense	9266	0	0					g.chr19:48977504C>T	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.613C>T	chr19.hg19:g.48977504C>T	ENSP00000408236:p.Arg205Trp	0					CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W	p.R205W			1	2	3	2.010022	Q99418	CYH2_HUMAN		7	1089	+			A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	1	1	hg19	c.613C>T	CCDS12722.1	1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462289	0.63513	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.55930	0.49;0.49;0.49	4.16	0.172	0.15031	4.16	0.172	0.15031	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.70903	2.155	0.54753	D	0.999981	D	0.65815	0.995	D	0.63793	0.918	T	0.68693	-0.5341	10	0.87932	D	0	.	11.7766	0.51989	0.3952:0.6048:0.0:0.0	.	205	Q99418-2	.	W	205;205;227	ENSP00000408236:R205W;ENSP00000391648:R205W;ENSP00000314566:R227W	ENSP00000314566:R227W	R	+	1	2	2	CYTH2	53669316	53669316	0.954000	0.32549	0.971000	0.41717	0.651000	0.38670	1.644000	0.37228	0.320000	0.23234	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-2.811521	1	0.170000	NM_004228			97	97		500	482	1		1	1		0	0	91	0		1	1	0	105	0	263	0	97	500
LMTK3	114783	broad.mit.edu	37	19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	862	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACATCAGCAGCTGTTCCGTG	0.706																																						ENST00000600059.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997062	0.990000	1.000000																										0				16						c.(2584-2586)Ctg>Atg		lemur tyrosine kinase 3							11.0	12.0	11.0					19																	49001742		1909	4130	6039	SO:0001583	missense	114783	0	0					g.chr19:49001742G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2584C>A	chr19.hg19:g.49001742G>T	ENSP00000472020:p.Leu862Met	0					LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M	p.L862M			1	2	3	2.010022	Q96Q04	LMTK3_HUMAN		11	2811	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	0	1	hg19	c.2584C>A		1	.	.	.	.	.	.	.	.	.	.	G	7.959	0.746601	0.15710	.	.	ENSG00000142235	ENST00000270238	D	0.86366	-2.11	3.37	1.09	0.20402	3.37	1.09	0.20402	.	0.407546	0.17495	N	0.172205	D	0.84120	0.5402	N	0.14661	0.345	0.24288	N	0.995175	D	0.76494	0.999	D	0.66716	0.946	T	0.74147	-0.3759	10	0.52906	T	0.07	.	7.5999	0.28069	0.2278:0.0:0.7722:0.0	.	862	Q96Q04	LMTK3_HUMAN	M	891	ENSP00000270238:L891M	ENSP00000270238:L891M	L	-	1	2	2	LMTK3	53693554	53693554	0.172000	0.23043	0.992000	0.48379	0.408000	0.30992	0.810000	0.27183	0.253000	0.21552	0.449000	0.29647	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-17.977100	1	0.170000	NM_052895			9	8		40	39	0		1	1		0	0	10	0		9.947707e-01	9.231091e-01	0	12	0	11	0	9	40
RPL18	6141	broad.mit.edu	37	19	49119337	49119337	+	Splice_Site	SNP	G	G	A	rs370747953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549920.1	-	5	812	c.420C>T	c.(418-420)tcC>tcT	p.S140S	RPL18_ENST00000549273.1_Splice_Site_p.S140S|RPL18_ENST00000552588.1_Splice_Site_p.S111S|FAM83E_ENST00000595110.1_5'Flank|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000550645.1_Intron	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	140					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		ATCACTCACCGGAGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.0		0.001	False		,,,				2504	0.0					ENST00000549920.1	1.000000	0.290000	6.700000e-01	3.800000e-01	0.500000	0.542361	0.500000	0.480000																										0				3						c.(418-420)tcC>tcT		ribosomal protein L18		G		0,4406		0,0,2203	83.0	70.0	75.0		420	-2.7	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	RPL18	NM_000979.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/189	49119337	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6141	8	121410	41				g.chr19:49119337G>A	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.421+1C>T	chr19.hg19:g.49119337G>A		0					FAM83E_ENST00000595110.1_5'Flank|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000552588.1_Splice_Site_p.S111S|RPL18_ENST00000550645.1_Intron|RPL18_ENST00000549273.1_Splice_Site_p.S140S	p.S140S	NM_000979.3	NP_000970.1	1	2	3	2.010022	Q07020	RL18_HUMAN		5	812	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	F8VWC5|Q8WTZ6	Splice_Site	SNP	ENST00000549920.1	1	0	hg19	c.420C>T	CCDS12726.1	0	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045780	0.08196	0.0	1.16E-4	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.74	-2.69	0.06022	4.74	-2.69	0.06022	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-12.0717	6.6251	0.22824	0.4645:0.0:0.4143:0.1212	.	.	.	.	W	142;119	.	.	R	-	1	2	2	RPL18	53811149	53811149	0.977000	0.34250	0.956000	0.39512	0.117000	0.20001	0.122000	0.15687	-0.953000	0.03645	-1.202000	0.01658	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.729352	1	0.170000	NM_000979	Silent		16	15		379	371	0		1	1		0	0	67	0		9.999237e-01	1	0	314	0	5060	0	16	379
RPL18	6141	broad.mit.edu	37	19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549920.1	-	4	613	c.221G>A	c.(220-222)gGc>gAc	p.G74D	RPL18_ENST00000549273.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D|SPHK2_ENST00000598088.1_5'Flank|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000340932.3_5'Flank|SPHK2_ENST00000601712.1_5'Flank|FAM83E_ENST00000595110.1_5'Flank|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000245222.4_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|SPHK2_ENST00000600537.1_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	74					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTTTTCCCGGCCAGGAAGCTT	0.577																																						ENST00000549920.1	1.000000	0.190000	5.000000e-01	2.600000e-01	0.350000	0.413901	0.350000	0.340000																										0				3						c.(220-222)gGc>gAc		ribosomal protein L18							88.0	82.0	84.0					19																	49120059		2203	4300	6503	SO:0001583	missense	6141	0	0					g.chr19:49120059C>T	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.221G>A	chr19.hg19:g.49120059C>T	ENSP00000447001:p.Gly74Asp	0					FAM83E_ENST00000595110.1_5'Flank|SPHK2_ENST00000600537.1_5'Flank|AC022154.7_ENST00000600303.1_RNA|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000245222.4_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|SPHK2_ENST00000601712.1_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.G74D|SPHK2_ENST00000598088.1_5'Flank|SPHK2_ENST00000340932.3_5'Flank	p.G74D	NM_000979.3	NP_000970.1	1	2	3	2.010022	Q07020	RL18_HUMAN		4	613	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	1	1	hg19	c.221G>A	CCDS12726.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665205|4.665205	0.88251|0.88251	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000549273;ENST00000550973;ENST00000450952|ENST00000084795;ENST00000546623	.|.	.|.	.|.	4.34|4.34	4.34|4.34	0.51931|0.51931	4.34|4.34	4.34|4.34	0.51931|0.51931	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69169|.	0.3081|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.41008|.	0.735;0.001|.	B;B|.	0.34931|.	0.192;0.019|.	T|.	0.68108|.	-0.5496|.	9|.	0.48119|.	T|.	0.1|.	-17.543|-17.543	14.7267|14.7267	0.69349|0.69349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	B4DDY5;Q07020|.	.;RL18_HUMAN|.	D|X	74;74;45;74;22;74|75;46	.|.	ENSP00000407348:G74D|.	G|W	-|-	2|3	0|0	0|0	RPL18|RPL18	53811871|53811871	53811871|53811871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.579000|6.579000	0.74036|0.74036	2.426000|2.426000	0.82243|0.82243	0.478000|0.478000	0.44815|0.44815	GGC|TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	0	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-3.273455	1	0.170000	NM_000979			12	11		407	398	0		1	1		0	0	103	0		9.990078e-01	1	0	97	0	3592	0	12	407
DBP	1628	broad.mit.edu	37	19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000599385.1_Missense_Mutation_p.V102M|DBP_ENST00000593500.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	304	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697																																						ENST00000222122.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999847	0.990000	1.000000																										0				5						c.(910-912)Gtg>Atg		D site of albumin promoter (albumin D-box) binding protein							20.0	22.0	21.0					19																	49134162		2202	4300	6502	SO:0001583	missense	1628	0	0					g.chr19:49134162C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.910G>A	chr19.hg19:g.49134162C>T	ENSP00000222122:p.Val304Met	0					DBP_ENST00000593500.1_Missense_Mutation_p.V102M|DBP_ENST00000599385.1_Missense_Mutation_p.V102M	p.V304M	NM_001352.3	NP_001343.2	1	2	3	2.010022	Q10586	DBP_HUMAN		4	1353	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	0	1	hg19	c.910G>A	CCDS12728.1	1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462057	0.43736	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.28	4.28	0.50868	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.187492	0.43919	U	0.000519	T	0.28101	0.0693	N	0.16266	0.395	0.37155	D	0.902331	B	0.33739	0.422	B	0.38458	0.274	T	0.25641	-1.0126	10	0.44086	T	0.13	-14.5292	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	304	Q10586	DBP_HUMAN	M	304	ENSP00000222122:V304M	ENSP00000222122:V304M	V	-	1	0	0	DBP	53825974	53825974	0.002000	0.14202	0.971000	0.41717	0.865000	0.49528	-0.017000	0.12590	2.364000	0.80123	0.563000	0.77884	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_001352			17	17		74	74	1		1	1		0	0	12	0		9.999816e-01	9.999996e-01	0	33	0	100	0	17	74
DBP	1628	broad.mit.edu	37	19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000599385.1_Missense_Mutation_p.R71H|DBP_ENST00000593500.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	273	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642																																						ENST00000222122.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(817-819)cGt>cAt		D site of albumin promoter (albumin D-box) binding protein							31.0	32.0	32.0					19																	49134254		2203	4300	6503	SO:0001583	missense	1628	0	0					g.chr19:49134254C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.818G>A	chr19.hg19:g.49134254C>T	ENSP00000222122:p.Arg273His	0					DBP_ENST00000593500.1_Missense_Mutation_p.R71H|DBP_ENST00000599385.1_Missense_Mutation_p.R71H	p.R273H	NM_001352.3	NP_001343.2	1	2	3	2.010022	Q10586	DBP_HUMAN		4	1261	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	1	1	hg19	c.818G>A	CCDS12728.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809129	0.90707	.	.	ENSG00000105516	ENST00000222122	T	0.72167	-0.63	4.81	4.81	0.61882	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-16.2193	15.7386	0.77866	0.0:1.0:0.0:0.0	.	273	Q10586	DBP_HUMAN	H	273	ENSP00000222122:R273H	ENSP00000222122:R273H	R	-	2	0	0	DBP	53826066	53826066	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	5.689000	0.68234	2.364000	0.80123	0.563000	0.77884	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_001352			32	31		112	110	1		1	1		0	0	33	0		1	1	0	55	0	119	0	32	112
NTN5	126147	broad.mit.edu	37	19	49167894	49167894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	254	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657																																						ENST00000270235.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998736	0.990000	1.000000																										0				10						c.(760-762)tgC>tgT		netrin 5							32.0	29.0	30.0					19																	49167894		2203	4300	6503	SO:0001819	synonymous_variant	126147	0	0					g.chr19:49167894G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.762C>T	chr19.hg19:g.49167894G>A		0					SEC1P_ENST00000430145.2_RNA	p.C254C	NM_145807.1	NP_665806.1	1	2	3	2.010022	Q8WTR8	NET5_HUMAN		3	857	-			Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	1	1	hg19	c.762C>T	CCDS33068.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_145807			21	20		134	133	0		1	0		0	0	33	0		9.999983e-01	1.493088e-01	0	0	0	5	0	21	134
FUT2	2524	broad.mit.edu	37	19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	93					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652																																						ENST00000425340.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				7						c.(277-279)Gcc>Acc		fucosyltransferase 2 (secretor status included)							28.0	28.0	28.0					19																	49206490		2202	4299	6501	SO:0001583	missense	2524	6	121268	35				g.chr19:49206490G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.277G>A	chr19.hg19:g.49206490G>A	ENSP00000387498:p.Ala93Thr	0					FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	1	2	3	2.010022	Q10981	FUT2_HUMAN		2	394	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	1	1	hg19	c.277G>A	CCDS33069.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956907	0.53293	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96856	-4.15;-4.15;-4.15	4.19	4.19	0.49359	4.19	4.19	0.49359	.	.	.	.	.	D	0.97961	0.9329	M	0.84326	2.69	0.35320	D	0.784649	D	0.89917	1.0	D	0.97110	1.0	D	0.99970	1.1963	9	0.66056	D	0.02	.	14.4048	0.67075	0.0:0.0:1.0:0.0	.	93	Q10981	FUT2_HUMAN	T	93	ENSP00000430227:A93T;ENSP00000387498:A93T;ENSP00000375748:A93T	ENSP00000375748:A93T	A	+	1	0	0	FUT2	53898302	53898302	1.000000	0.71417	0.894000	0.35097	0.049000	0.14656	4.284000	0.58983	2.037000	0.60232	0.549000	0.68633	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	1	0	0		17	2	2	0		0	1	45		45	46	1	2.060000	-20.000000	1	0.170000	NM_000511			39	38		204	194	1		1	1		0	0	45	0		9.990723e-01	9.999989e-01	0	46	0	68	0	39	204
FUT2	2524	broad.mit.edu	37	19	49207006	49207006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49207006G>A	ENST00000425340.2	+	2	910	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	265					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GTTTGCTGGCGATGGCATTGA	0.547																																						ENST00000425340.2	1.000000	0.090000	2.600000e-01	1.300000e-01	0.180000	0.253011	0.180000	0.170000																										0				7						c.(793-795)Gat>Aat		fucosyltransferase 2 (secretor status included)							262.0	214.0	230.0					19																	49207006		2203	4300	6503	SO:0001583	missense	2524	0	0					g.chr19:49207006G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.793G>A	chr19.hg19:g.49207006G>A	ENSP00000387498:p.Asp265Asn	0					FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	1	2	3	2.010022	Q10981	FUT2_HUMAN		2	910	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	0	1	hg19	c.793G>A	CCDS33069.1	0	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074326	0.01903	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96587	-4.06;-4.06	5.25	-3.23	0.05109	5.25	-3.23	0.05109	.	.	.	.	.	D	0.86543	0.5958	N	0.01779	-0.725	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.73148	-0.4074	8	.	.	.	.	14.106	0.65091	0.3518:0.0:0.6482:0.0	.	265	Q10981	FUT2_HUMAN	N	265	ENSP00000387498:D265N;ENSP00000375748:D265N	.	D	+	1	0	0	FUT2	53898818	53898818	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.826000	0.04429	-0.736000	0.04831	-0.275000	0.10095	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	0	0	0		2	2	2	0		0	0	159		159	159	1	2.060000	-2.621405	1	0.170000	NM_000511			12	12		805	793	0		1	1		0	0	159	0		9.990317e-01	7.573421e-01	0	8	0	175	0	12	805
RASIP1	54922	broad.mit.edu	37	19	49232824	49232824	+	Silent	SNP	C	C	T	rs147351682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49232824C>T	ENST00000222145.4	-	5	1407	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	401					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCTGCTCTCGCGTCATCACAT	0.557																																						ENST00000222145.4	1.000000	0.750000	1	9.900000e-01	0.990000	0.982769	0.990000	1.000000																										0				21						c.(1201-1203)acG>acA		Ras interacting protein 1							17.0	13.0	14.0					19																	49232824		2185	4287	6472	SO:0001819	synonymous_variant	54922	0	0					g.chr19:49232824C>T	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1203G>A	chr19.hg19:g.49232824C>T		0					RASIP1_ENST00000594232.1_5'UTR	p.T401T	NM_017805.2	NP_060275.2	1	2	3	2.010022	Q5U651	RAIN_HUMAN		5	1407	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Q6U676	Silent	SNP	ENST00000222145.4	0	0	hg19	c.1203G>A	CCDS12731.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-15.126360	1	0.170000	NM_017805			8	8		53	50	1		1	0		0	0	10	0		9.889363e-01	6.245941e-01	0	1	0	14	0	8	53
BCAT2	587	broad.mit.edu	37	19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000316273.6	-	5	469	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E113K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	153					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.E153K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTGTCCACTTCGATGAGCCGG	0.642																																						ENST00000316273.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E153K(1)	skin(1)	12						c.(457-459)Gaa>Aaa		branched chain amino-acid transaminase 2, mitochondrial	L-Isoleucine(DB00167)|L-Leucine(DB00149)						41.0	43.0	43.0					19																	49303312		2203	4300	6503	SO:0001583	missense	587	0	0					g.chr19:49303312C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.457G>A	chr19.hg19:g.49303312C>T	ENSP00000322991:p.Glu153Lys	0					BCAT2_ENST00000402551.1_Missense_Mutation_p.E113K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K	p.E153K	NM_001190.3	NP_001181.2	1	2	3	2.010022	O15382	BCAT2_HUMAN		5	469	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	1	1	hg19	c.457G>A	CCDS12735.1	1	.	.	.	.	.	.	.	.	.	.	C	5.292	0.239195	0.10023	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.16324	2.35;2.35;2.35	4.86	1.33	0.21861	4.86	1.33	0.21861	.	0.159471	0.53938	D	0.000054	T	0.05686	0.0149	N	0.05306	-0.075	0.53005	D	0.999963	B;B;B;B	0.24963	0.013;0.115;0.002;0.115	B;B;B;B	0.19391	0.01;0.025;0.002;0.015	T	0.38628	-0.9652	10	0.02654	T	1	-7.9185	8.2993	0.32004	0.0:0.6183:0.2964:0.0852	.	113;153;61;153	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	153;61;113	ENSP00000322991:E153K;ENSP00000440973:E61K;ENSP00000385161:E113K	ENSP00000322991:E153K	E	-	1	0	0	BCAT2	53995124	53995124	0.047000	0.20315	0.007000	0.13788	0.559000	0.35586	1.230000	0.32612	0.152000	0.19188	0.561000	0.74099	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-4.662553	1	0.170000				67	65		212	204	0		1	1		0	0	52	0		1	1	0	46	0	74	0	67	212
PLEKHA4	57664	broad.mit.edu	37	19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	365						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			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)		CAACTTACATCTGTCTCCAAG	0.512																																						ENST00000263265.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1093-1095)Gat>Tat		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							109.0	116.0	114.0					19																	49357476		2203	4300	6503	SO:0001583	missense	57664	0	0					g.chr19:49357476C>A	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.1093G>T	chr19.hg19:g.49357476C>A	ENSP00000263265:p.Asp365Tyr	0					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	p.D365Y	NM_020904.2	NP_065955.2	1	2	3	2.010022	Q9H4M7	PKHA4_HUMAN		10	1648	-		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)	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	1	1	hg19	c.1093G>T	CCDS12737.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936060	0.73442	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.39056	1.1;1.1	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.367900	0.25380	N	0.031082	T	0.61825	0.2378	M	0.64997	1.995	0.39509	D	0.968337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.65672	-0.6111	10	0.87932	D	0	.	14.6028	0.68453	0.0:1.0:0.0:0.0	.	340;365	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	Y	365;340	ENSP00000263265:D365Y;ENSP00000347683:D340Y	ENSP00000263265:D365Y	D	-	1	0	0	PLEKHA4	54049288	54049288	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.439000	0.52878	2.580000	0.87095	0.563000	0.77884	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	1	0	1		2	2	2	0		0	0	123		123	118	1	2.060000	-20.000000	1	0.170000				120	119		468	463	1		1	1		0	0	123	0		1	9.999535e-01	0	7	0	51	0	120	468
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			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)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45.0	39.0	41.0					19																	49362745		2203	4300	6503	SO:0001583	missense	57664	0	0					g.chr19:49362745G>A	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.673C>T	chr19.hg19:g.49362745G>A	ENSP00000263265:p.Arg225Trp	0					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	p.R225W	NM_020904.2	NP_065955.2	1	2	3	2.010022	Q9H4M7	PKHA4_HUMAN		7	1228	-		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)	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	1	1	hg19	c.673C>T	CCDS12737.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	2	PLEKHA4	54054557	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				40	39		176	172	1		1	1		0	0	53	0		1	9.994165e-01	0	9	0	44	0	40	176
PPP1R15A	23645	broad.mit.edu	37	19	49377870	49377870	+	Silent	SNP	C	C	A	rs368067897		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49377870C>A	ENST00000200453.5	+	2	1649	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	460	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)			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)		CAGAAGCAGCCTTGGGAGAAG	0.562																																						ENST00000200453.5	1.000000	0.110000	3.600000e-01	1.700000e-01	0.240000	0.309175	0.240000	0.230000																										0				23						c.(1378-1380)gcC>gcA		protein phosphatase 1, regulatory subunit 15A							74.0	74.0	74.0					19																	49377870		2203	4300	6503	SO:0001819	synonymous_variant	23645	0	0					g.chr19:49377870C>A	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.1380C>A	chr19.hg19:g.49377870C>A		0						p.A460A	NM_014330.3	NP_055145.3	1	2	3	2.010022	O75807	PR15A_HUMAN		2	1649	+		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)	B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	0	1	hg19	c.1380C>A	CCDS12738.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	0	0	0		2	2	2	0		0	0	100		100	98	1	2.060000	-8.025026	1	0.170000	NM_014330			9	8		462	450	0		1	1		0	0	100	0		9.935364e-01	9.033450e-01	0	2	0	212	0	9	462
PPP1R15A	23645	broad.mit.edu	37	19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	514	Interaction with KMT2A/MLL1.				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.P514S(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)		CATCTATGTACCTGGAGAGAA	0.622																																						ENST00000200453.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P514S(1)	skin(1)	23						c.(1540-1542)Cct>Tct		protein phosphatase 1, regulatory subunit 15A							51.0	49.0	50.0					19																	49378030		2203	4300	6503	SO:0001583	missense	23645	0	0					g.chr19:49378030C>T	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.1540C>T	chr19.hg19:g.49378030C>T	ENSP00000200453:p.Pro514Ser	0						p.P514S	NM_014330.3	NP_055145.3	1	2	3	2.010022	O75807	PR15A_HUMAN		2	1809	+		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)	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	1	1	hg19	c.1540C>T	CCDS12738.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321945	0.81580	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15256	2.44	4.43	4.43	0.53597	4.43	4.43	0.53597	.	0.092903	0.35349	N	0.003273	T	0.33381	0.0861	L	0.54323	1.7	0.39850	D	0.973228	D	0.89917	1.0	D	0.85130	0.997	T	0.03403	-1.1040	10	0.20519	T	0.43	-15.4289	13.3017	0.60328	0.0:1.0:0.0:0.0	.	514	O75807	PR15A_HUMAN	S	514;354;472	ENSP00000200453:P514S	ENSP00000200453:P514S	P	+	1	0	0	PPP1R15A	54069842	54069842	0.978000	0.34361	0.957000	0.39632	0.936000	0.57629	2.332000	0.43903	2.414000	0.81942	0.650000	0.86243	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_014330			81	77		321	314	1		1	1		0	0	83	0		1	1	0	51	0	178	0	81	321
PPP1R15A	23645	broad.mit.edu	37	19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	614					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)			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)		GCCCGGGCCAGAGCCTGGGCA	0.692																																						ENST00000200453.5	1.000000	0.840000	1	9.000000e-01	0.980000	0.964958	0.980000	1.000000																										0				23						c.(1840-1842)aGa>aAa		protein phosphatase 1, regulatory subunit 15A							117.0	134.0	128.0					19																	49379046		2203	4300	6503	SO:0001583	missense	23645	0	0					g.chr19:49379046G>A	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.1841G>A	chr19.hg19:g.49379046G>A	ENSP00000200453:p.Arg614Lys	0						p.R614K	NM_014330.3	NP_055145.3	1	2	3	2.010022	O75807	PR15A_HUMAN		3	2110	+		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)	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	1	1	hg19	c.1841G>A	CCDS12738.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15834	2.39	4.96	2.66	0.31614	4.96	2.66	0.31614	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.153148	0.39909	N	0.001222	T	0.15132	0.0365	L	0.35414	1.06	0.33439	D	0.582152	P	0.47484	0.896	P	0.47470	0.548	T	0.15492	-1.0435	10	0.66056	D	0.02	-17.293	6.0042	0.19537	0.1016:0.1936:0.7048:0.0	.	614	O75807	PR15A_HUMAN	K	614;454;572	ENSP00000200453:R614K	ENSP00000200453:R614K	R	+	2	0	0	PPP1R15A	54070858	54070858	0.728000	0.28080	1.000000	0.80357	0.997000	0.91878	1.044000	0.30329	1.404000	0.46819	0.655000	0.94253	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	1	0	1		2	2	2	0		0	0	275		275	270	1	2.060000	-20.000000	1	0.170000	NM_014330			160	156		1773	1687	0		1	1		0	0	275	0		1	9.999710e-01	0	22	0	135	0	160	1773
UHRF1	29128	broad.mit.edu	37	19	4950688	4950688	+	RNA	SNP	G	G	A	rs377699288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607																																						ENST00000592666.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R541Q(2)	prostate(2)	16								ubiquitin-like with PHD and ring finger domains 1		G	GLN/ARG,GLN/ARG	0,3872		0,0,1936	20.0	25.0	24.0		1583,1622	4.8	0.9	19		24	1,8195		0,1,4097	no	missense,missense	UHRF1	NM_001048201.1,NM_013282.3	43,43	0,1,6033	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	528/794,541/807	4950688	1,12067	1936	4098	6034			29128	2	120780	26				g.chr19:4950688G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			chr19.hg19:g.4950688G>A		0									1	2	3	2.010022	Q96T88	UHRF1_HUMAN		0	2159	+			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	0	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	0	UHRF1	4901688	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	0	0	1		2	2	2	0		0	0	39		39	48	1	2.060000	-20.000000	1	0.170000	NM_001048201			39	37		160	150	0		1	1		0	0	39	0		1	9.585940e-01	0	10	0	14	0	39	160
GYS1	2997	broad.mit.edu	37	19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A	rs371546215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000323798.3	-	15	2079	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_ENST00000541188.1_Missense_Mutation_p.A548V|GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	628					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)			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)		CACCGCATCCGCCTCGTTGGG	0.612																																						ENST00000323798.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1882-1884)gCg>gTg		glycogen synthase 1 (muscle)		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	58.0	60.0		1691,1883	3.3	0.7	19		60	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	564/674,628/738	49473039	1,13005	2203	4300	6503	SO:0001583	missense	2997	0	0					g.chr19:49473039G>A		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.1883C>T	chr19.hg19:g.49473039G>A	ENSP00000317904:p.Ala628Val	0					GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	p.A628V	NM_002103.4	NP_002094.2	1	2	3	2.010022	P13807	GYS1_HUMAN		15	2079	-		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)	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	1	1	hg19	c.1883C>T	CCDS12747.1	1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988775	0.18966	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.43	3.3	0.37823	5.43	3.3	0.37823	.	0.246452	0.40222	N	0.001156	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P	0.41929	0.765;0.529;0.637	B;B;B	0.34301	0.179;0.102;0.179	T	0.10847	-1.0612	10	0.11485	T	0.65	-7.818	9.6035	0.39619	0.1748:0.0:0.8252:0.0	.	548;564;628	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	V	628;564;548;261	ENSP00000317904:A628V;ENSP00000263276:A564V;ENSP00000437922:A548V;ENSP00000444004:A261V	ENSP00000263276:A564V	A	-	2	0	0	GYS1	54164851	54164851	0.932000	0.31603	0.665000	0.29768	0.152000	0.21847	3.622000	0.54217	0.767000	0.33267	-0.140000	0.14226	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_002103			51	50		230	223	1		1	1	0	0	0	71	0		1	9.971628e-01	0	10	0	33	1	51	230
RUVBL2	10856	broad.mit.edu	37	19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000595090.1	+	4	661	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	66					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662																																						ENST00000595090.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(196-198)gGg>gTg		RuvB-like AAA ATPase 2							50.0	56.0	54.0					19																	49507607		1966	4136	6102	SO:0001583	missense	10856	0	0					g.chr19:49507607G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.197G>T	chr19.hg19:g.49507607G>T	ENSP00000473172:p.Gly66Val	0					RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	p.G66V	NM_006666.1	NP_006657.1	1	2	3	2.010022	Q9Y230	RUVB2_HUMAN		4	661	+		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)	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	1	1	hg19	c.197G>T	CCDS42588.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871445	0.91587	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.51325	0.71;0.8	4.74	4.74	0.60224	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	H	0.98089	4.145	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.978;0.981	D	0.87759	0.2597	10	0.87932	D	0	-53.1308	15.594	0.76562	0.0:0.0:1.0:0.0	.	66;66;32	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	66;21	ENSP00000221413:G66V;ENSP00000413890:G21V	ENSP00000221413:G66V	G	+	2	0	0	RUVBL2	54199419	54199419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.639000	0.91023	2.366000	0.80165	0.561000	0.74099	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				90	87		426	424	1		1	1		0	0	75	0		1	1	0	42	0	76	0	90	426
RUVBL2	10856	broad.mit.edu	37	19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657																																						ENST00000595090.1	1.000000	0.290000	6.300000e-01	3.800000e-01	0.480000	0.525820	0.480000	0.460000																										0				2						c.(388-390)cGc>cAc		RuvB-like AAA ATPase 2							36.0	40.0	39.0					19																	49510398		1939	4129	6068	SO:0001583	missense	10856	6	120840	39				g.chr19:49510398G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	chr19.hg19:g.49510398G>A	ENSP00000473172:p.Arg130His	0					RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	p.R130H	NM_006666.1	NP_006657.1	1	2	3	2.010022	Q9Y230	RUVB2_HUMAN		5	853	+		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)	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	1	1	hg19	c.389G>A	CCDS42588.1	0	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	0	RUVBL2	54202210	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-2.893894	1	0.170000				20	19		488	477	0		1	1		0	0	84	0		9.999941e-01	9.996049e-01	0	6	0	300	0	20	488
RUVBL2	10856	broad.mit.edu	37	19	49510577	49510577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000595090.1	+	6	878	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_ENST00000413176.2_Silent_p.I93I|RUVBL2_ENST00000601968.1_Silent_p.I93I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582																																						ENST00000595090.1	1.000000	0.740000	1	9.000000e-01	0.990000	0.964988	0.990000	1.000000																										0				2						c.(412-414)atC>atT		RuvB-like AAA ATPase 2							103.0	113.0	110.0					19																	49510577		2087	4213	6300	SO:0001819	synonymous_variant	10856	1	121040	36				g.chr19:49510577C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.414C>T	chr19.hg19:g.49510577C>T		0					RUVBL2_ENST00000413176.2_Silent_p.I93I|RUVBL2_ENST00000601968.1_Silent_p.I93I	p.I138I	NM_006666.1	NP_006657.1	1	2	3	2.010022	Q9Y230	RUVB2_HUMAN		6	878	+		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)	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	1	1	hg19	c.414C>T	CCDS42588.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-10.094360	1	0.170000				28	28		281	275	0		1	1		0	0	63	0		1	9.999999e-01	0	26	0	243	0	28	281
RUVBL2	10856	broad.mit.edu	37	19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000595090.1	+	8	1119	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	219					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652																																						ENST00000595090.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(655-657)Ggc>Tgc		RuvB-like AAA ATPase 2							32.0	34.0	33.0					19																	49513315		1941	4115	6056	SO:0001583	missense	10856	0	0					g.chr19:49513315G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.655G>T	chr19.hg19:g.49513315G>T	ENSP00000473172:p.Gly219Cys	0					RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C	p.G219C	NM_006666.1	NP_006657.1	1	2	3	2.010022	Q9Y230	RUVB2_HUMAN		8	1119	+		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)	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	1	1	hg19	c.655G>T	CCDS42588.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038964	0.75617	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47177	0.85	4.19	4.19	0.49359	4.19	4.19	0.49359	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85128	0.0973	10	0.87932	D	0	-33.5793	14.4091	0.67103	0.0:0.0:1.0:0.0	.	219;219;185	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	C	219;174	ENSP00000413890:G174C	ENSP00000221413:G219C	G	+	1	0	0	RUVBL2	54205127	54205127	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.327000	0.90012	2.341000	0.79615	0.650000	0.86243	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000				49	46		191	189	1		1	1		0	0	36	0		1	1	0	91	0	227	0	49	191
CGB1	114335	broad.mit.edu	37	19	49539472	49539472	+	Missense_Mutation	SNP	G	G	A	rs202067695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	ENST00000301407.7	-	2	202	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	65						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACAGCCAGGGTGGCATTGAT	0.672																																						ENST00000301407.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(97-99)aCc>aTc		chorionic gonadotropin, beta polypeptide 1							24.0	26.0	25.0					19																	49539472		1484	2659	4143	SO:0001583	missense	114335	0	0					g.chr19:49539472G>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.98C>T	chr19.hg19:g.49539472G>A	ENSP00000301407:p.Thr33Ile	0					CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	p.T33I	NM_033377.1	NP_203695.2	1	2	3	2.010022	A6NKQ9	CGB1_HUMAN		2	202	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	A4FVC8|A8MUK6	Missense_Mutation	SNP	ENST00000301407.7	0	1	hg19	c.98C>T	CCDS12751.2	1	.	.	.	.	.	.	.	.	.	.	g	5.170	0.216905	0.09810	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	D;D	0.92099	-2.97;-2.97	1.79	1.79	0.24919	1.79	1.79	0.24919	.	0.111798	0.64402	D	0.000014	D	0.87997	0.6319	.	.	.	0.36859	D	0.888294	B	0.27656	0.184	B	0.32149	0.141	D	0.87299	0.2304	9	0.51188	T	0.08	-22.3916	9.6174	0.39701	0.0:0.0:1.0:0.0	.	33	A6NKQ9-2	.	I	33	ENSP00000301407:T33I;ENSP00000375742:T33I	ENSP00000301407:T33I	T	-	2	0	0	CGB1	54231284	54231284	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.163000	0.50763	1.313000	0.45069	0.184000	0.17185	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	0	0	1		7	2	2	0		0	1	96		96	145	1	2.060000	-3.076090	1	0.170000	NM_033377			87	37		498	175	0		1			0	0	96	0		9.999998e-01	0	0	0	0	0	0	87	498
KCNA7	3743	broad.mit.edu	37	19	49573470	49573470	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	407					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CAGCCTCTTCGCCCTCTGTCT	0.592																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1219-1221)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 7	Dalfampridine(DB06637)						72.0	68.0	69.0					19																	49573470		2203	4300	6503	SO:0001819	synonymous_variant	3743	5	121412	39				g.chr19:49573470G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1221C>T	chr19.hg19:g.49573470G>A		0						p.G407G	NM_031886.2	NP_114092.2	1	2	3	2.010022	Q96RP8	KCNA7_HUMAN		2	1576	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	1	1	hg19	c.1221C>T	CCDS12755.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-4.481606	1	0.170000	NM_031886			79	77		258	252	1		1			0	0	64	0		1	0	0	0	0	0	0	79	258
KCNA7	3743	broad.mit.edu	37	19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	182					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGGCCGGCTGCGGCTGCAGCA	0.701																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(544-546)Gca>Aca		potassium voltage-gated channel, shaker-related subfamily, member 7	Dalfampridine(DB06637)						7.0	8.0	8.0					19																	49575299		1827	3688	5515	SO:0001583	missense	3743	2	116274	37				g.chr19:49575299C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.544G>A	chr19.hg19:g.49575299C>T	ENSP00000221444:p.Ala182Thr	0						p.A182T	NM_031886.2	NP_114092.2	1	2	3	2.010022	Q96RP8	KCNA7_HUMAN		1	899	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	1	1	hg19	c.544G>A	CCDS12755.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833847	0.32421	.	.	ENSG00000104848	ENST00000221444	D	0.97665	-4.48	4.28	4.28	0.50868	4.28	4.28	0.50868	.	1.488200	0.03933	N	0.285642	D	0.94368	0.8189	L	0.29908	0.895	0.29307	N	0.868284	B	0.09022	0.002	B	0.04013	0.001	T	0.80837	-0.1204	10	0.11182	T	0.66	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	182	Q96RP8	KCNA7_HUMAN	T	182	ENSP00000221444:A182T	ENSP00000221444:A182T	A	-	1	0	0	KCNA7	54267111	54267111	0.022000	0.18835	0.086000	0.20670	0.007000	0.05969	3.360000	0.52299	2.134000	0.65973	0.485000	0.47835	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_031886			25	24		84	82	0		1			0	0	12	0		9.999999e-01	0	0	0	0	0	0	25	84
SNRNP70	6625	broad.mit.edu	37	19	49611533	49611533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49611533C>T	ENST00000598441.1	+	10	1371	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R374W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	383	Arg/Asp/Glu-rich (mixed charge).				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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						acggggggagcggggcagtga	0.721																																						ENST00000598441.1	1.000000	0.410000	1	6.700000e-01	0.990000	0.881300	0.990000	1.000000																										0				12						c.(1147-1149)Cgg>Tgg		small nuclear ribonucleoprotein 70kDa (U1)							8.0	13.0	11.0					19																	49611533		2169	4257	6426	SO:0001583	missense	6625	2	118776	22				g.chr19:49611533C>T		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.1147C>T	chr19.hg19:g.49611533C>T	ENSP00000472998:p.Arg383Trp	0					SNRNP70_ENST00000221448.5_Missense_Mutation_p.R374W	p.R383W			1	2	3	2.010022	P08621	RU17_HUMAN		10	1371	+			B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	0	1	hg19	c.1147C>T	CCDS12756.1	1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408900	0.42715	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.54	2.47	0.30058	3.54	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.53270	0.1786	N	0.24115	0.695	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;P	0.64321	0.924;0.846	T	0.55970	-0.8056	9	0.72032	D	0.01	-5.0902	10.7043	0.45946	0.0:0.8034:0.1966:0.0	.	383;374	P08621;P08621-2	RU17_HUMAN;.	W	383;287	.	ENSP00000221448:R383W	R	+	1	2	2	SNRNP70	54303345	54303345	0.944000	0.32072	1.000000	0.80357	0.735000	0.41995	1.292000	0.33342	0.809000	0.34255	-0.499000	0.04595	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-10.220030	1	0.170000	NM_003089			5	5		55	54	0		1	0		0	0	10	0		9.375959e-01	2.544316e-01	0	0	0	9	0	5	55
C19orf73	55150	broad.mit.edu	37	19	49621899	49621899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	127										large_intestine(1)|lung(2)	3						ACTAGTCCGAGGGCGGAGGGC	0.597																																						ENST00000408991.2	1.000000	0.280000	5.700000e-01	3.500000e-01	0.440000	0.489592	0.440000	0.420000																										0				3						c.(379-381)ccC>ccT		chromosome 19 open reading frame 73							51.0	59.0	56.0					19																	49621899		2072	4180	6252	SO:0001819	synonymous_variant	55150	1	121002	31				g.chr19:49621899G>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.381C>T	chr19.hg19:g.49621899G>A		0					PPFIA3_ENST00000334186.4_5'Flank	p.P127P	NM_018111.2	NP_060581.2	1	2	3	2.010022	Q9NVV2	CS073_HUMAN		1	498	-			Q6NSX4	Silent	SNP	ENST00000408991.2	1	1	hg19	c.381C>T	CCDS42589.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.947827	1	0.170000	NM_018111			22	22		585	571	0		1	1		0	0	90	0		9.999984e-01	1.612288e-01	0	2	0	17	0	22	585
PPFIA3	8541	broad.mit.edu	37	19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	138					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGTGAAGCGCCAGGCCCAG	0.597																																						ENST00000334186.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(412-414)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							56.0	61.0	59.0					19																	49632175		2203	4300	6503	SO:0001583	missense	8541	0	0					g.chr19:49632175G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.413G>A	chr19.hg19:g.49632175G>A	ENSP00000335614:p.Arg138His	0					PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	p.R138H	NM_003660.2	NP_003651.1	1	2	3	2.010022	O75145	LIPA3_HUMAN		4	762	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	1	1	hg19	c.413G>A	CCDS12758.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.858546	0.97036	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.51325	0.71	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.44097	D	0.000481	T	0.56352	0.1979	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	0.999;0.994;0.999	T	0.61845	-0.6979	10	0.87932	D	0	-14.6239	17.0217	0.86435	0.0:0.0:1.0:0.0	.	62;138;138	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	138;62	ENSP00000335614:R138H	ENSP00000335614:R138H	R	+	2	0	0	PPFIA3	54323987	54323987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.596000	0.98267	2.646000	0.89796	0.563000	0.77884	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_003660			82	78		407	398	1		1	1		0	0	77	0		1	8.286309e-01	0	12	0	6	0	82	407
HRC	3270	broad.mit.edu	37	19	49655301	49655301	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49655301G>A	ENST00000252825.4	-	4	2172	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	HRC_ENST00000595625.1_Silent_p.C639C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	662	Metal-binding. {ECO:0000255}.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCAGAGATAGCAGAACTGAC	0.677																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4	1.000000	0.200000	6.100000e-01	2.900000e-01	0.410000	0.466559	0.410000	0.380000																										0				34						c.(1984-1986)tgC>tgT		histidine rich calcium binding protein							36.0	38.0	38.0					19																	49655301		2203	4300	6503	SO:0001819	synonymous_variant	3270	0	0					g.chr19:49655301G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1986C>T	chr19.hg19:g.49655301G>A		0					HRC_ENST00000595625.1_Silent_p.C639C	p.C662C	NM_002152.2	NP_002143.1	1	2	3	2.010022	P23327	SRCH_HUMAN		4	2172	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Q504Y6	Silent	SNP	ENST00000252825.4	1	1	hg19	c.1986C>T	CCDS12759.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-10.058830	1	0.170000	NM_002152			9	9		267	260	0		1			0	0	52	0		9.937339e-01	0	0	0	0	0	0	9	267
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1522-1524)ggC>ggT		histidine rich calcium binding protein							107.0	86.0	93.0					19																	49656971		2203	4300	6503	SO:0001819	synonymous_variant	3270	0	0					g.chr19:49656971G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1524C>T	chr19.hg19:g.49656971G>A		0					HRC_ENST00000595625.1_Silent_p.G508G	p.G508G	NM_002152.2	NP_002143.1	1	2	3	2.010022	P23327	SRCH_HUMAN		1	1710	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Q504Y6	Silent	SNP	ENST00000252825.4	1	1	hg19	c.1524C>T	CCDS12759.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_002152			52	52		218	210	1		1	0		0	0	48	0		1	1.001538e-01	0	0	0	3	0	52	218
HRC	3270	broad.mit.edu	37	19	49657295	49657295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1198-1200)aaG>aaA		histidine rich calcium binding protein							118.0	110.0	113.0					19																	49657295		2203	4300	6503	SO:0001819	synonymous_variant	3270	0	0					g.chr19:49657295C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1200G>A	chr19.hg19:g.49657295C>T		0					HRC_ENST00000595625.1_Silent_p.K400K	p.K400K	NM_002152.2	NP_002143.1	1	2	3	2.010022	P23327	SRCH_HUMAN		1	1386	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Q504Y6	Silent	SNP	ENST00000252825.4	1	1	hg19	c.1200G>A	CCDS12759.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1		2	2	2	0		0	0	93		93	90	1	2.060000	-3.093818	1	0.170000	NM_002152			93	92		454	448	1		1	0		0	0	93	0		1	2.957443e-02	0	0	0	2	0	93	454
HRC	3270	broad.mit.edu	37	19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A	rs557094516		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	58					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGTGGTGGCGAAGCTCTGCT	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19069	0.0		0.0	False		,,,				2504	0.0				Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(172-174)Cgc>Tgc		histidine rich calcium binding protein							193.0	164.0	174.0					19																	49658323		2203	4300	6503	SO:0001583	missense	3270	1	121412	36				g.chr19:49658323G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.172C>T	chr19.hg19:g.49658323G>A	ENSP00000252825:p.Arg58Cys	0					HRC_ENST00000595625.1_Missense_Mutation_p.R58C|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000252826.5_5'Flank	p.R58C	NM_002152.2	NP_002143.1	1	2	3	2.010022	P23327	SRCH_HUMAN		1	358	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	1	1	hg19	c.172C>T	CCDS12759.1	1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619296	0.28801	.	.	ENSG00000130528	ENST00000252825	T	0.07114	3.22	3.26	-0.0384	0.13880	3.26	-0.0384	0.13880	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.04013	0.001	T	0.38824	-0.9643	9	0.72032	D	0.01	-1.5384	4.9026	0.13782	0.0:0.604:0.1801:0.2159	.	58	P23327	SRCH_HUMAN	C	58	ENSP00000252825:R58C	ENSP00000252825:R58C	R	-	1	0	0	HRC	54350135	54350135	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	0.070000	0.16634	-0.220000	0.12472	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_002152			107	106		510	501	1		1	0		0	0	111	0		1	1.434849e-01	0	0	0	4	0	107	510
TRPM4	54795	broad.mit.edu	37	19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	349					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTCCTGCAGGCCCAGGTATG	0.642																																						ENST00000252826.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1045-1047)Gcc>Tcc		transient receptor potential cation channel, subfamily M, member 4							20.0	22.0	21.0					19																	49675021		2203	4299	6502	SO:0001583	missense	54795	0	0					g.chr19:49675021G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1045G>T	chr19.hg19:g.49675021G>T	ENSP00000252826:p.Ala349Ser	0					TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR	p.A349S	NM_017636.3	NP_060106.2	1	2	3	2.010022	Q8TD43	TRPM4_HUMAN		8	1171	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	1	1	hg19	c.1045G>T	CCDS33073.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331366	0.60853	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.35605	1.3;1.3;1.75	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.161181	0.41823	D	0.000807	T	0.51312	0.1667	L	0.51422	1.61	0.23991	N	0.996245	B;D;D;B	0.76494	0.01;0.999;0.99;0.304	B;D;P;B	0.80764	0.029;0.994;0.829;0.105	T	0.40997	-0.9533	10	0.23891	T	0.37	-25.9946	14.2646	0.66107	0.0:0.0:1.0:0.0	.	66;175;349;349	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	349;349;66	ENSP00000252826:A349S;ENSP00000407492:A349S;ENSP00000347944:A66S	ENSP00000252826:A349S	A	+	1	0	0	TRPM4	54366833	54366833	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.828000	0.62730	2.529000	0.85273	0.591000	0.81541	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_017636			34	34		137	135	1		1	1		0	0	26	0		1	9.999999e-01	0	46	0	67	0	34	137
TRPM4	54795	broad.mit.edu	37	19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	964					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTATCCTGCGCCGCGTCTT	0.617																																						ENST00000252826.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				49						c.(2890-2892)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							64.0	58.0	60.0					19																	49703979		2203	4300	6503	SO:0001583	missense	54795	0	0					g.chr19:49703979C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2890C>T	chr19.hg19:g.49703979C>T	ENSP00000252826:p.Arg964Cys	0					TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	p.R964C	NM_017636.3	NP_060106.2	1	2	3	2.010022	Q8TD43	TRPM4_HUMAN		19	3016	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	1	1	hg19	c.2890C>T	CCDS33073.1	1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590570	0.66219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	3.46	0.39613	4.57	3.46	0.39613	.	0.123452	0.56097	D	0.000034	D	0.87509	0.6195	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.90009	0.4120	10	0.87932	D	0	-24.2806	13.4979	0.61436	0.1561:0.8439:0.0:0.0	.	610;790;819;964	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	964;819;610	ENSP00000252826:R964C;ENSP00000407492:R819C;ENSP00000347944:R610C	ENSP00000252826:R964C	R	+	1	0	0	TRPM4	54395791	54395791	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.271000	0.75665	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_017636			48	47		282	273	1		1	1		0	0	53	0		1	1	0	62	0	114	0	48	282
TRPM4	54795	broad.mit.edu	37	19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1107	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGGCCCTCGAGCATTTCCG	0.622																																						ENST00000252826.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3319-3321)Gag>Aag		transient receptor potential cation channel, subfamily M, member 4							19.0	22.0	21.0					19																	49713653		2200	4294	6494	SO:0001583	missense	54795	0	0					g.chr19:49713653G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3319G>A	chr19.hg19:g.49713653G>A	ENSP00000252826:p.Glu1107Lys	0					TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	p.E1107K	NM_017636.3	NP_060106.2	1	2	3	2.010022	Q8TD43	TRPM4_HUMAN		21	3445	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	1	1	hg19	c.3319G>A	CCDS33073.1	1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970452	0.34754	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50548	0.74;0.74;0.74	4.51	-2.58	0.06228	4.51	-2.58	0.06228	.	13.009600	0.00166	N	0.000000	T	0.21674	0.0522	N	0.04373	-0.215	0.09310	N	1	B;B;B;B	0.18610	0.029;0.013;0.013;0.005	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.18241	-1.0343	10	0.08837	T	0.75	-9.0442	5.8779	0.18838	0.2718:0.4661:0.2621:0.0	.	753;933;962;1107	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	K	1107;962;753	ENSP00000252826:E1107K;ENSP00000407492:E962K;ENSP00000347944:E753K	ENSP00000252826:E1107K	E	+	1	0	0	TRPM4	54405465	54405465	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.756000	0.04777	-0.065000	0.13021	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.334965	1	0.170000	NM_017636			61	61		259	252	1		1	1		0	0	50	0		1	1	0	38	0	117	0	61	259
SLC6A16	28968	broad.mit.edu	37	19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000335875.4	-	7	1334	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_ENST00000454748.3_Missense_Mutation_p.P365T|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	365					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			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)		TTGGACTGGGGCATGTAGGAG	0.488																																						ENST00000335875.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1093-1095)Ccc>Acc		solute carrier family 6, member 16							140.0	136.0	137.0					19																	49812269		2067	4182	6249	SO:0001583	missense	28968	0	0					g.chr19:49812269G>T	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.1093C>A	chr19.hg19:g.49812269G>T	ENSP00000338627:p.Pro365Thr	0					MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.P365T	p.P365T	NM_014037.2	NP_054756.2	1	2	3	2.010022	Q9GZN6	S6A16_HUMAN		7	1334	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	1	1	hg19	c.1093C>A	CCDS42590.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215951	0.39201	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75050	-0.9;-0.9	4.38	-7.37	0.01412	4.38	-7.37	0.01412	.	0.693049	0.14340	N	0.325763	T	0.51517	0.1679	L	0.39566	1.225	0.09310	N	1	P;P	0.36789	0.57;0.57	B;B	0.37943	0.261;0.261	T	0.48896	-0.8994	10	0.23891	T	0.37	.	0.833	0.01134	0.2528:0.3354:0.1588:0.2531	.	365;365	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	T	365	ENSP00000338627:P365T;ENSP00000404022:P365T	ENSP00000338627:P365T	P	-	1	0	0	SLC6A16	54504081	54504081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.867000	0.04241	-1.132000	0.02907	-0.258000	0.10820	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	1	0	1		2	2	2	0		0	0	166		166	164	1	2.060000	-20.000000	1	0.170000	NM_014037			117	115		506	493	1		1	0		0	0	166	0		1	3.566168e-02	0	1	0	1	0	117	506
TEAD2	8463	broad.mit.edu	37	19	49850619	49850619	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000311227.2	-	9	827	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000377214.4_Splice_Site_p.Y249C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	246	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GTGCCTCTGGTACTGAGGAGG	0.632																																						ENST00000311227.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(736-738)tAc>tGc		TEA domain family member 2							70.0	78.0	75.0					19																	49850619		2203	4300	6503	SO:0001630	splice_region_variant	8463	0	0					g.chr19:49850619T>C	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.736-1A>G	chr19.hg19:g.49850619T>C		0					TEAD2_ENST00000377214.4_Splice_Site_p.Y249C|TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C|TEAD2_ENST00000598397.1_5'UTR	p.Y246C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	1	2	3	2.010022	Q15562	TEAD2_HUMAN		9	827	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Splice_Site	SNP	ENST00000311227.2	1	0	hg19	c.737A>G	CCDS12761.1	1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321648	0.60634	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.72	0.32119	5.03	2.72	0.32119	.	0.354519	0.23528	N	0.047206	T	0.46054	0.1373	L	0.56396	1.775	0.39856	D	0.97331	D;B;D	0.69078	0.997;0.047;0.971	P;B;P	0.57776	0.827;0.117;0.813	T	0.46428	-0.9192	10	0.62326	D	0.03	-12.8121	8.2952	0.31982	0.3265:0.0:0.0:0.6735	.	118;246;249	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	246;249;118	ENSP00000310701:Y246C;ENSP00000366419:Y249C;ENSP00000437928:Y118C	ENSP00000310701:Y246C	Y	-	2	0	0	TEAD2	54542431	54542431	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.937000	0.40193	0.843000	0.35070	0.533000	0.62120	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_003598	Missense_Mutation		112	111		508	499	0		1	1		0	0	95	0		1	9.999841e-01	0	9	0	64	0	112	508
DKKL1	27120	broad.mit.edu	37	19	49878129	49878129	+	Silent	SNP	C	C	T	rs375202437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.S49S	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	191					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)			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)		ACTGGCTCAGCGAGAAGCGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.001					ENST00000221498.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				3						c.(571-573)agC>agT		dickkopf-like 1							27.0	30.0	29.0					19																	49878129		2203	4300	6503	SO:0001819	synonymous_variant	27120	2	121404	28				g.chr19:49878129C>T	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.573C>T	chr19.hg19:g.49878129C>T		0					AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.S49S	p.S191S	NM_014419.3	NP_055234.1	1	2	3	2.010022	Q9UK85	DKKL1_HUMAN		5	978	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		Silent	SNP	ENST00000221498.2	1	1	hg19	c.573C>T	CCDS12762.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_014419			35	35		192	188	1		1	1		0	0	50	0		1	4.234191e-01	0	4	0	5	0	35	192
SLC17A7	57030	broad.mit.edu	37	19	49938140	49938140	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		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;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562																																						ENST00000221485.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999275	0.990000	1.000000																										0				26						c.e4-1		solute carrier family 17 (vesicular glutamate transporter), member 7							55.0	53.0	54.0					19																	49938140		2203	4300	6503	SO:0001630	splice_region_variant	57030	0	0					g.chr19:49938140C>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.435-1G>T	chr19.hg19:g.49938140C>A		0					SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site		NM_020309.3	NP_064705.1	1	2	3	2.010022	Q9P2U7	VGLU1_HUMAN		4	606	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	B4DFR9|B4DG46|Q6PCD0	Splice_Site	SNP	ENST00000221485.3	1	1	hg19		CCDS12764.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652502	0.67472	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0618	0.80841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC17A7	54629952	54629952	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	7.191000	0.77763	2.741000	0.93983	0.585000	0.79938	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000		Intron		17	17		92	90	1		1			0	0	27	0		9.999753e-01	0	0	0	0	0	0	17	92
PIH1D1	55011	broad.mit.edu	37	19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	61					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				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)		CTTCCCTTCCGAGGAGTTGGT	0.542																																						ENST00000262265.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(181-183)tCg>tTg		PIH1 domain containing 1							123.0	109.0	114.0					19																	49952887		2203	4300	6503	SO:0001583	missense	55011	2	121412	31				g.chr19:49952887G>A	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.182C>T	chr19.hg19:g.49952887G>A	ENSP00000262265:p.Ser61Leu	0					PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	p.S61L	NM_017916.2	NP_060386.1	1	2	3	2.010022	Q9NWS0	PIHD1_HUMAN		3	417	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	1	1	hg19	c.182C>T	CCDS12765.1	1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418996	0.25552	.	.	ENSG00000104872	ENST00000262265	T	0.16743	2.32	5.19	4.16	0.48862	5.19	4.16	0.48862	.	0.562942	0.18438	N	0.141225	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	D;B	0.53462	0.96;0.044	B;B	0.43916	0.436;0.017	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.1746	9.7784	0.40634	0.0949:0.0:0.9051:0.0	.	61;61	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	L	61	ENSP00000262265:S61L	ENSP00000262265:S61L	S	-	2	0	0	PIH1D1	54644699	54644699	0.024000	0.19004	0.002000	0.10522	0.302000	0.27658	2.235000	0.43044	1.199000	0.43173	0.561000	0.74099	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.999690	1	0.170000	NM_017916			41	42		189	181	1		1	1		0	0	46	0		1	1	0	71	0	232	0	41	189
PIH1D1	55011	broad.mit.edu	37	19	49954801	49954801	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	ALDH16A1_ENST00000433981.2_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L11L|ALDH16A1_ENST00000455361.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	11					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				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)		GCCTCGCTTAGCCCCATTCCC	0.612																																						ENST00000262265.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(31-33)Cta>Tta		PIH1 domain containing 1							88.0	75.0	80.0					19																	49954801		2203	4300	6503	SO:0001819	synonymous_variant	55011	0	0					g.chr19:49954801G>A	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.31C>T	chr19.hg19:g.49954801G>A		0					ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L11L|ALDH16A1_ENST00000433981.2_5'Flank	p.L11L	NM_017916.2	NP_060386.1	1	2	3	2.010022	Q9NWS0	PIHD1_HUMAN		1	266	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	1	1	hg19	c.31C>T	CCDS12765.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_017916			92	89		408	403	1		1	1		0	0	96	0		1	1	0	107	0	224	0	92	408
ALDH16A1	126133	broad.mit.edu	37	19	49965961	49965961	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	ALDH16A1_ENST00000433981.2_Silent_p.A184A|ALDH16A1_ENST00000540132.1_Silent_p.A186A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	349						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697																																						ENST00000293350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1045-1047)gcA>gcG		aldehyde dehydrogenase 16 family, member A1							23.0	26.0	25.0					19																	49965961		2202	4299	6501	SO:0001819	synonymous_variant	126133	0	0					g.chr19:49965961A>G	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1047A>G	chr19.hg19:g.49965961A>G		0					CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Silent_p.A186A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000433981.2_Silent_p.A184A	p.A349A	NM_153329.3	NP_699160.2	1	2	3	2.010022	Q8IZ83	A16A1_HUMAN		8	1210	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	1	1	hg19	c.1047A>G	CCDS12766.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_153329			50	47		252	247	1		1	1		0	0	42	0		1	9.602185e-01	0	6	0	23	0	50	252
ALDH16A1	126133	broad.mit.edu	37	19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T	rs377255662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	535						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642																																						ENST00000293350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1603-1605)Cgt>Tgt		aldehyde dehydrogenase 16 family, member A1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	47.0	45.0		1450,1603	3.9	1.0	19		45	0,8600		0,0,4300	no	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	484/752,535/803	49969029	1,13005	2203	4300	6503	SO:0001583	missense	126133	1	121412	32				g.chr19:49969029C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1603C>T	chr19.hg19:g.49969029C>T	ENSP00000293350:p.Arg535Cys	0					CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C	p.R535C	NM_153329.3	NP_699160.2	1	2	3	2.010022	Q8IZ83	A16A1_HUMAN		13	1766	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	1	1	hg19	c.1603C>T	CCDS12766.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	2.27E-4	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.94	0.45596	5.05	3.94	0.45596	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.723110	0.13548	N	0.379647	T	0.28797	0.0714	N	0.08118	0	0.43226	D	0.995112	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.56278	0.795;0.53;0.628	T	0.20438	-1.0275	10	0.87932	D	0	-19.8971	11.934	0.52864	0.1745:0.8255:0.0:0.0	.	372;484;535	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	535;484;372;370	ENSP00000293350:R535C;ENSP00000410142:R484C;ENSP00000445088:R372C;ENSP00000398675:R370C	ENSP00000293350:R535C	R	+	1	0	0	ALDH16A1	54660841	54660841	0.637000	0.27216	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	2.349000	0.79799	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.961024	1	0.170000	NM_153329			93	90		336	324	1		1	1		0	0	79	0		1	9.999444e-01	0	15	0	39	0	93	336
ALDH16A1	126133	broad.mit.edu	37	19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	702						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667																																						ENST00000293350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2104-2106)Ctg>Atg		aldehyde dehydrogenase 16 family, member A1							95.0	100.0	99.0					19																	49971803		2203	4300	6503	SO:0001583	missense	126133	0	0					g.chr19:49971803C>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2104C>A	chr19.hg19:g.49971803C>A	ENSP00000293350:p.Leu702Met	0					CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M	p.L702M	NM_153329.3	NP_699160.2	1	2	3	2.010022	Q8IZ83	A16A1_HUMAN		15	2267	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	1	1	hg19	c.2104C>A	CCDS12766.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356634	0.24598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	1.93	0.25924	4.21	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.190007	0.45606	D	0.000358	T	0.31482	0.0798	L	0.41492	1.28	0.22911	N	0.998579	P;D;P	0.53885	0.923;0.963;0.937	P;P;P	0.54629	0.621;0.757;0.739	T	0.06679	-1.0813	10	0.48119	T	0.1	-10.9114	4.8466	0.13516	0.0:0.6511:0.217:0.1319	.	539;651;702	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	702;651;539;537	ENSP00000293350:L702M;ENSP00000410142:L651M;ENSP00000445088:L539M;ENSP00000398675:L537M	ENSP00000293350:L702M	L	+	1	2	2	ALDH16A1	54663615	54663615	0.969000	0.33509	0.985000	0.45067	0.028000	0.11728	2.083000	0.41615	0.450000	0.26774	-0.494000	0.04653	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1		2	2	2	0		0	0	150		150	147	1	2.060000	-20.000000	1	0.170000	NM_153329			170	167		743	730	1		1	1		0	0	150	0		1	9.999900e-01	0	21	0	51	0	170	743
RPS11	6205	broad.mit.edu	37	19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|MIR150_ENST00000385048.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|SNORD35B_ENST00000363660.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		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;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567																																						ENST00000270625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(313-315)Cgc>Tgc		ribosomal protein S11							117.0	90.0	99.0					19																	50001263		2203	4300	6503	SO:0001583	missense	6205	0	0					g.chr19:50001263C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.313C>T	chr19.hg19:g.50001263C>T	ENSP00000270625:p.Arg105Cys	0					hsa-mir-150_ENST00000602157.1_5'Flank|MIR150_ENST00000385048.1_RNA|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C	p.R105C	NM_001015.4	NP_001006.1	1	2	3	2.010022	P62280	RS11_HUMAN		4	396	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	1	1	hg19	c.313C>T	CCDS12769.1	1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949952	0.53186	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.109453	0.64402	N	0.000011	T	0.81740	0.4886	H	0.99712	4.72	0.80722	D	1	B	0.27229	0.172	B	0.13407	0.009	D	0.84106	0.0398	8	.	.	.	-23.5429	9.2385	0.37481	0.0:0.9009:0.0:0.0991	.	105	P62280	RS11_HUMAN	C	105	.	.	R	+	1	0	0	RPS11	54693075	54693075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.692000	0.61746	2.256000	0.74724	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	1	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-20.000000	1	0.170000	NM_001015			90	88		285	276	1		1	1		0	0	73	0		1	1	0	1482	0	5253	0	90	285
FCGRT	2217	broad.mit.edu	37	19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000594823.1_3'UTR|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	252	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632																																						ENST00000221466.5	1.000000	0.280000	6.800000e-01	3.800000e-01	0.500000	0.544024	0.500000	0.480000																										0				9						c.(754-756)aAc>aGc		Fc fragment of IgG, receptor, transporter, alpha							79.0	66.0	70.0					19																	50027917		2203	4300	6503	SO:0001583	missense	2217	0	0					g.chr19:50027917A>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.755A>G	chr19.hg19:g.50027917A>G	ENSP00000221466:p.Asn252Ser	0					RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000599988.1_Intron	p.N252S	NM_001136019.2	NP_001129491.1	1	2	3	2.010022	P55899	FCGRN_HUMAN		5	1241	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	1	1	hg19	c.755A>G	CCDS12770.1	0	.	.	.	.	.	.	.	.	.	.	A	7.758	0.704719	0.15172	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00623	6.15;6.15	4.31	3.3	0.37823	4.31	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	T	0.01976	0.0062	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62186	-0.6907	10	0.59425	D	0.04	.	6.6251	0.22824	0.8912:0.0:0.1088:0.0	.	252	P55899	FCGRN_HUMAN	S	252	ENSP00000221466:N252S;ENSP00000410798:N252S	ENSP00000221466:N252S	N	+	2	0	0	FCGRT	54719729	54719729	0.997000	0.39634	0.762000	0.31397	0.105000	0.19272	3.973000	0.56845	0.817000	0.34445	0.379000	0.24179	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1	0	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-16.033730	1	0.170000				15	14		355	344	0		1	1		0	0	71	0		9.998445e-01	1	0	37	0	1065	0	15	355
RCN3	57333	broad.mit.edu	37	19	50045888	50045888	+	Missense_Mutation	SNP	G	G	A	rs543008006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50045888G>A	ENST00000270645.3	+	6	1205	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	253	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CGGGACTTCCGGGATCTGAAC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14454	0.001		0.0	False		,,,				2504	0.0					ENST00000270645.3	1.000000	0.380000	1	6.200000e-01	0.980000	0.856125	0.980000	1.000000																										0				12						c.(757-759)cGg>cAg		reticulocalbin 3, EF-hand calcium binding domain							36.0	37.0	37.0					19																	50045888		2200	4300	6500	SO:0001583	missense	57333	4	121228	32				g.chr19:50045888G>A	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.758G>A	chr19.hg19:g.50045888G>A	ENSP00000270645:p.Arg253Gln	0						p.R253Q	NM_020650.2	NP_065701.2	1	2	3	2.010022	Q96D15	RCN3_HUMAN		6	1205	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	0	1	hg19	c.758G>A	CCDS12771.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.588961	0.96590	.	.	ENSG00000142552	ENST00000270645	T	0.54479	0.57	5.16	5.16	0.70880	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76876	-0.2797	10	0.30078	T	0.28	-30.9967	17.4697	0.87642	0.0:0.0:1.0:0.0	.	253	Q96D15	RCN3_HUMAN	Q	253	ENSP00000270645:R253Q	ENSP00000270645:R253Q	R	+	2	0	0	RCN3	54737700	54737700	1.000000	0.71417	0.977000	0.42913	0.794000	0.44872	9.121000	0.94375	2.421000	0.82119	0.650000	0.86243	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-5.164227	1	0.170000	NM_020650			5	5		60	60	0		1	1		0	0	22	0		9.401026e-01	9.999983e-01	0	53	0	677	0	5	60
NOSIP	51070	broad.mit.edu	37	19	50060162	50060162	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000596358.1	-	6	565	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000339093.3_Silent_p.P172P|NOSIP_ENST00000391853.3_Silent_p.P169P	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	169					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662																																						ENST00000596358.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				11						c.(505-507)ccC>ccT		nitric oxide synthase interacting protein							30.0	31.0	30.0					19																	50060162		2203	4299	6502	SO:0001819	synonymous_variant	51070	0	0					g.chr19:50060162G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.507C>T	chr19.hg19:g.50060162G>A		0					NOSIP_ENST00000391853.3_Silent_p.P169P|NOSIP_ENST00000339093.3_Silent_p.P172P	p.P169P	NM_001270960.1	NP_001257889.1	1	2	3	2.010022	Q9Y314	NOSIP_HUMAN		6	565	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	Q96FD2	Silent	SNP	ENST00000596358.1	1	1	hg19	c.507C>T	CCDS12772.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-3.267923	1	0.170000				22	21		105	102	0		1	1		0	0	20	0		9.999991e-01	1	0	83	0	222	0	22	105
NOSIP	51070	broad.mit.edu	37	19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000596358.1	-	5	382	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677																																						ENST00000596358.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				11						c.(322-324)caG>caT		nitric oxide synthase interacting protein							24.0	26.0	25.0					19																	50060441		2203	4299	6502	SO:0001583	missense	51070	0	0					g.chr19:50060441C>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.324G>T	chr19.hg19:g.50060441C>A	ENSP00000470034:p.Gln108His	0					NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H	p.Q108H	NM_001270960.1	NP_001257889.1	1	2	3	2.010022	Q9Y314	NOSIP_HUMAN		5	382	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	1	1	hg19	c.324G>T	CCDS12772.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602309	0.46423	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77098	-1.07;-1.07	5.15	2.95	0.34219	5.15	2.95	0.34219	.	0.386687	0.27214	N	0.020382	T	0.67429	0.2892	L	0.42744	1.35	0.46701	D	0.999163	B	0.17852	0.024	B	0.16722	0.016	T	0.61182	-0.7114	10	0.52906	T	0.07	-32.2216	7.2859	0.26340	0.1672:0.7453:0.0:0.0875	.	108	Q9Y314	NOSIP_HUMAN	H	108	ENSP00000343497:Q108H;ENSP00000375726:Q108H	ENSP00000343497:Q108H	Q	-	3	2	2	NOSIP	54752253	54752253	0.990000	0.36364	0.964000	0.40570	0.526000	0.34562	0.233000	0.17911	0.527000	0.28560	0.462000	0.41574	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000				21	21		67	66	1		1	1		0	0	12	0		9.999991e-01	1	0	69	0	175	0	21	67
PRR12	57479	broad.mit.edu	37	19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667																																						ENST00000418929.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(472-474)Ggc>Agc		proline rich 12							21.0	26.0	24.0					19																	50098064		1997	4149	6146	SO:0001583	missense	57479	3	120774	31				g.chr19:50098064G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.472G>A	chr19.hg19:g.50098064G>A	ENSP00000394510:p.Gly158Ser	0						p.G158S	NM_020719.1	NP_065770.1	1	2	3	2.010022	Q9ULL5	PRR12_HUMAN		4	484	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	1	1	hg19	c.472G>A	CCDS46143.1	1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615774	0.28801	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.71	2.67	0.31697	3.71	2.67	0.31697	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.24849	N	0.992416	B	0.24368	0.102	B	0.17098	0.017	T	0.31696	-0.9934	7	0.02654	T	1	.	5.27	0.15620	0.3422:0.0:0.6578:0.0	.	158	Q9ULL5-3	.	S	158	.	ENSP00000394510:G158S	G	+	1	0	0	PRR12	54789876	54789876	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.418000	0.34782	0.922000	0.37019	0.563000	0.77884	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_020719			30	28		95	91	1		1	1		0	0	19	0		1	9.996710e-01	0	9	0	35	0	30	95
PRR12	57479	broad.mit.edu	37	19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682																																						ENST00000418929.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(550-552)Tcc>Ccc		proline rich 12							25.0	28.0	27.0					19																	50098142		1964	4142	6106	SO:0001583	missense	57479	0	0					g.chr19:50098142T>C	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.550T>C	chr19.hg19:g.50098142T>C	ENSP00000394510:p.Ser184Pro	0						p.S184P	NM_020719.1	NP_065770.1	1	2	3	2.010022	Q9ULL5	PRR12_HUMAN		4	562	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	1	1	hg19	c.550T>C	CCDS46143.1	1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908427	0.33721	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	T	0.77751	0.4177	.	.	.	0.36605	D	0.874868	D	0.76494	0.999	D	0.83275	0.996	D	0.83942	0.0312	7	0.72032	D	0.01	.	12.3339	0.55056	0.0:0.0:0.0:1.0	.	184	Q9ULL5-3	.	P	184	.	ENSP00000394510:S184P	S	+	1	0	0	PRR12	54789954	54789954	0.873000	0.30073	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.827000	0.53221	0.460000	0.39030	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_020719			25	24		74	73	1		1	1		0	0	19	0		9.999999e-01	9.998238e-01	0	12	0	34	0	25	74
PRR12	57479	broad.mit.edu	37	19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682																																						ENST00000418929.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(1885-1887)Ggt>Tgt		proline rich 12							14.0	20.0	18.0					19																	50099477		1966	4143	6109	SO:0001583	missense	57479	0	0					g.chr19:50099477G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1885G>T	chr19.hg19:g.50099477G>T	ENSP00000394510:p.Gly629Cys	0						p.G629C	NM_020719.1	NP_065770.1	1	2	3	2.010022	Q9ULL5	PRR12_HUMAN		4	1897	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	1	1	hg19	c.1885G>T	CCDS46143.1	1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141698	0.06669	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.9	1.72	0.24424	3.9	1.72	0.24424	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.28170	-1.0052	7	0.66056	D	0.02	.	7.675	0.28480	0.2088:0.0:0.7912:0.0	.	629	Q9ULL5-3	.	C	629	.	ENSP00000394510:G629C	G	+	1	0	0	PRR12	54791289	54791289	0.095000	0.21747	0.096000	0.21009	0.741000	0.42261	0.801000	0.27055	0.439000	0.26476	0.289000	0.19496	GGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_020719			34	33		165	162	1		1	1		0	0	32	0		1	9.047756e-01	0	5	0	17	0	34	165
SCAF1	58506	broad.mit.edu	37	19	50161056	50161056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1219	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597																																						ENST00000360565.3	1.000000	0.810000	1	9.900000e-01	0.990000	0.988792	0.990000	1.000000																										0				20						c.(3655-3657)gaG>gaA		SR-related CTD-associated factor 1							80.0	56.0	64.0					19																	50161056		2203	4300	6503	SO:0001819	synonymous_variant	58506	1	121382	14				g.chr19:50161056G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3657G>A	chr19.hg19:g.50161056G>A		0					IRF3_ENST00000599680.1_5'Flank	p.E1219E	NM_021228.2	NP_067051.2	1	2	3	2.010022	Q9H7N4	SFR19_HUMAN		10	3781	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	1	1	hg19	c.3657G>A	CCDS33074.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-18.142240	1	0.170000	NM_021228			10	10		66	63	0		1	1		0	0	25	0		9.969559e-01	9.999964e-01	0	73	0	133	0	10	66
IRF3	3661	broad.mit.edu	37	19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000442265.2_Intron|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|BCL2L12_ENST00000246784.3_5'Flank|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H			Q14653	IRF3_HUMAN	interferon regulatory factor 3	86					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|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 type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCTTCTTTGCGGTTGAGGGC	0.577																																						ENST00000597198.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(256-258)cGc>cAc		interferon regulatory factor 3							67.0	60.0	63.0					19																	50166680		2203	4300	6503	SO:0001583	missense	3661	3	121412	34				g.chr19:50166680C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.257G>A	chr19.hg19:g.50166680C>T	ENSP00000469113:p.Arg86His	0					IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H	p.R86H			1	2	3	2.010022	Q14653	IRF3_HUMAN		3	638	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	1	1	hg19	c.257G>A	CCDS12775.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017058	0.54576	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.97811	-4.55;-4.55;-4.55	4.92	4.92	0.64577	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.255793	0.32785	N	0.005658	D	0.98267	0.9426	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.973;0.999	D;P;P;P;D	0.68621	0.955;0.82;0.82;0.537;0.959	D	0.99157	1.0860	10	0.72032	D	0.01	-24.1366	15.961	0.79930	0.0:1.0:0.0:0.0	.	86;86;86;86;86	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	86	ENSP00000366344:R86H;ENSP00000310127:R86H;ENSP00000366339:R86H	ENSP00000310127:R86H	R	-	2	0	0	IRF3	54858492	54858492	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.047000	0.49854	2.451000	0.82905	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.358847	1	0.170000	NM_001571			52	52		219	214	1		1	1		0	0	55	0		1	1	0	76	0	229	0	52	219
CPT1C	126129	broad.mit.edu	37	19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGGGCTCCGGGGGGTCCTG	0.672																																						ENST00000392518.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994353	0.990000	1.000000																										0				27						c.(304-306)cGg>cAg		carnitine palmitoyltransferase 1C							84.0	82.0	82.0					19																	50203964		2203	4300	6503	SO:0001583	missense	126129	6	121408	42				g.chr19:50203964G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.305G>A	chr19.hg19:g.50203964G>A	ENSP00000376303:p.Arg102Gln	0					CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q	p.R102Q	NM_001199752.1	NP_001186681.1	1	2	3	2.010022	Q8TCG5	CPT1C_HUMAN		5	677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	1	1	hg19	c.305G>A	CCDS12779.1	1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647378	0.03506	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.47	-0.363	0.12556	4.47	-0.363	0.12556	.	0.620826	0.13466	N	0.385764	T	0.37705	0.1013	N	0.02142	-0.665	0.22185	N	0.999302	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.31558	-0.9939	10	0.08381	T	0.77	-23.8765	3.325	0.07063	0.377:0.2079:0.415:0.0	.	102;102;102	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	Q	102	ENSP00000376303:R102Q;ENSP00000346138:R102Q;ENSP00000384465:R102Q;ENSP00000319343:R102Q	ENSP00000319343:R102Q	R	+	2	0	0	CPT1C	54895776	54895776	0.154000	0.22792	0.936000	0.37596	0.025000	0.11179	0.712000	0.25779	0.142000	0.18901	-0.749000	0.03505	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	1	0	1		2	2	2	0		0	0	131		131	127	1	2.060000	-2.415704	0	0.170000	NM_152359			76	75		713	695	0		1	1		0	0	131	0		1	9.121630e-01	0	2	0	39	0	76	713
CPT1C	126129	broad.mit.edu	37	19	50212024	50212024	+	Silent	SNP	C	C	T	rs61747405	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50212024C>T	ENST00000392518.4	+	14	1866	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	CPT1C_ENST00000354199.5_Silent_p.D498D|CPT1C_ENST00000405931.2_Silent_p.D487D|CPT1C_ENST00000598293.1_Silent_p.D498D|CPT1C_ENST00000323446.5_Silent_p.D498D	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	498					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACTCAACAGACGGCCACTGCA	0.607													c|||	75	0.014976	0.0272	0.0101	5008	,	,		15016	0.001		0.0278	False		,,,				2504	0.0031					ENST00000392518.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1492-1494)gaC>gaT		carnitine palmitoyltransferase 1C		C	,,,	81,4325	72.5+/-110.5	1,79,2123	121.0	110.0	114.0		1461,1494,1494,1494	-4.4	0.7	19	dbSNP_129	114	206,8394	89.2+/-151.4	3,200,4097	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CPT1C	NM_001136052.2,NM_001199752.1,NM_001199753.1,NM_152359.2	,,,	4,279,6220	TT,TC,CC		2.3953,1.8384,2.2067	,,,	487/793,498/804,498/804,498/804	50212024	287,12719	2203	4300	6503	SO:0001819	synonymous_variant	126129	2656	121412	68				g.chr19:50212024C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1494C>T	chr19.hg19:g.50212024C>T		0					CPT1C_ENST00000405931.2_Silent_p.D487D|CPT1C_ENST00000354199.5_Silent_p.D498D|CPT1C_ENST00000323446.5_Silent_p.D498D|CPT1C_ENST00000598293.1_Silent_p.D498D	p.D498D	NM_001199752.1	NP_001186681.1	1	2	3	2.010022	Q8TCG5	CPT1C_HUMAN		14	1866	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	1	0	hg19	c.1494C>T	CCDS12779.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	0	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-2.346927	0	0.170000	NM_152359			130	128		599	590	1		1	1		0	0	134	0		1	9.510682e-01	0	3	0	22	0	130	599
CPT1C	126129	broad.mit.edu	37	19	50216321	50216321	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	742					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACAAAAACGGTGAGACAAA	0.527																																						ENST00000392518.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2224-2226)acG>acA		carnitine palmitoyltransferase 1C							178.0	150.0	159.0					19																	50216321		2203	4300	6503	SO:0001630	splice_region_variant	126129	1	121412	34				g.chr19:50216321G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2226+1G>A	chr19.hg19:g.50216321G>A		0					CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T	p.T742T	NM_001199752.1	NP_001186681.1	1	2	3	2.010022	Q8TCG5	CPT1C_HUMAN		19	2598	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	1	0	hg19	c.2226G>A	CCDS12779.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-2.677818	1	0.170000	NM_152359	Silent		169	168		678	675	0		1	0		0	0	152	0		1	9.974841e-01	0	0	0	38	0	169	678
TSKS	60385	broad.mit.edu	37	19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	544					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			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)		CAGAGTGGCCATCTTCTCCCT	0.592																																						ENST00000246801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1630-1632)aTg>aCg		testis-specific serine kinase substrate							93.0	85.0	88.0					19																	50243181		2203	4300	6503	SO:0001583	missense	60385	1	121412	30				g.chr19:50243181A>G	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.1631T>C	chr19.hg19:g.50243181A>G	ENSP00000246801:p.Met544Thr	0					TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	p.M544T	NM_021733.1	NP_068379.1	1	2	3	2.010022	Q9UJT2	TSKS_HUMAN		11	1713	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	1	1	hg19	c.1631T>C	CCDS12780.1	1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241732	0.05906	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.27890	1.64;1.64	5.44	2.23	0.28157	5.44	2.23	0.28157	.	0.857574	0.09841	N	0.748920	T	0.14270	0.0345	N	0.08118	0	0.23204	N	0.998125	B	0.11235	0.004	B	0.11329	0.006	T	0.32079	-0.9920	10	0.28530	T	0.3	-9.4709	4.2281	0.10590	0.6446:0.1749:0.1805:0.0	.	544	Q9UJT2	TSKS_HUMAN	T	544;344	ENSP00000246801:M544T;ENSP00000351691:M344T	ENSP00000246801:M544T	M	-	2	0	0	TSKS	54934993	54934993	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	0.878000	0.28126	0.070000	0.16634	0.496000	0.49642	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000	NM_021733			70	69		413	403	1		1	0		0	0	109	0		1	0	0	0	0	1	0	70	413
TSKS	60385	broad.mit.edu	37	19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	295					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			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)		AGGCCGTGTGGCCGCGAGGGT	0.721																																						ENST00000246801.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(883-885)Cca>Tca		testis-specific serine kinase substrate							21.0	24.0	23.0					19																	50249836		2197	4291	6488	SO:0001583	missense	60385	0	0					g.chr19:50249836G>A	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.883C>T	chr19.hg19:g.50249836G>A	ENSP00000246801:p.Pro295Ser	0					TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	p.P295S	NM_021733.1	NP_068379.1	1	2	3	2.010022	Q9UJT2	TSKS_HUMAN		6	965	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	1	1	hg19	c.883C>T	CCDS12780.1	1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215193	0.22373	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33865	1.39;1.39	4.87	1.49	0.22878	4.87	1.49	0.22878	.	1.157390	0.06486	N	0.733790	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.25916	-1.0118	10	0.05833	T	0.94	-6.5428	4.5318	0.12008	0.1991:0.1842:0.6167:0.0	.	295	Q9UJT2	TSKS_HUMAN	S	295;95	ENSP00000246801:P295S;ENSP00000351691:P95S	ENSP00000246801:P295S	P	-	1	0	0	TSKS	54941648	54941648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	0.228000	0.21019	-0.136000	0.14681	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000	NM_021733			66	64		285	275	0		1			0	0	47	0		1	0	0	0	0	0	0	66	285
FUZ	80199	broad.mit.edu	37	19	50314697	50314697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50314697G>T	ENST00000313777.4	-	5	578	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	139					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGTCCCCCAGGAAGCTGTCG	0.582																																						ENST00000313777.4	1.000000	0.220000	6.900000e-01	3.300000e-01	0.470000	0.519135	0.470000	0.440000																										0				4						c.(415-417)Ctg>Atg		fuzzy planar cell polarity protein							62.0	55.0	58.0					19																	50314697		2203	4300	6503	SO:0001583	missense	80199	0	0					g.chr19:50314697G>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.415C>A	chr19.hg19:g.50314697G>T	ENSP00000313309:p.Leu139Met	0					FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000526575.1_3'UTR	p.L139M	NM_025129.4	NP_079405.2	1	2	3	2.010022	Q9BT04	FUZZY_HUMAN		5	578	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	0	1	hg19	c.415C>A	CCDS12781.1	0	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416090	0.62511	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.296424	0.27345	N	0.019797	T	0.61110	0.2321	L	0.31926	0.97	0.44155	D	0.996958	D;D;D	0.89917	0.999;1.0;0.984	D;D;D	0.91635	0.998;0.999;0.926	T	0.63301	-0.6668	10	0.54805	T	0.06	-11.0072	13.5847	0.61924	0.0:0.0:1.0:0.0	.	139;103;139	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	M	103;89;139;139;39;139;89;139	ENSP00000435177:L103M;ENSP00000431731:L89M;ENSP00000313309:L139M;ENSP00000408018:L139M	ENSP00000313309:L139M	L	-	1	2	2	FUZ	55006509	55006509	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.832000	0.62759	2.171000	0.68590	0.462000	0.41574	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-10.830110	1	0.170000	NM_025129			9	9		233	230	0		1	1		0	0	37	0		9.941435e-01	9.005682e-01	0	7	0	101	0	9	233
MED25	81857	broad.mit.edu	37	19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GACGTGGTGTTTGTGATTGAG	0.682																																					GBM(51;894 1657 37868)	ENST00000312865.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				17						c.(58-60)tTt>tAt		mediator complex subunit 25							47.0	44.0	45.0					19																	50321657		2203	4300	6503	SO:0001583	missense	81857	0	0					g.chr19:50321657T>A	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.59T>A	chr19.hg19:g.50321657T>A	ENSP00000326767:p.Phe20Tyr	0					MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	p.F20Y	NM_030973.3	NP_112235.2	1	2	3	2.010022	Q71SY5	MED25_HUMAN		1	112	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	1	1	hg19	c.59T>A	CCDS33075.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.063493	0.93898	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221;ENST00000544580	T;T	0.81163	1.83;-1.46	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.67397	2.05	0.23813	N	0.996771	D;D	0.58268	0.982;0.982	P;P	0.57846	0.828;0.828	T	0.78861	-0.2037	10	0.72032	D	0.01	.	12.039	0.53442	0.0:0.0:0.0:1.0	.	20;20	B9TX30;Q71SY5	.;MED25_HUMAN	Y	20	ENSP00000326767:F20Y;ENSP00000437496:F20Y	ENSP00000326767:F20Y	F	+	2	0	0	MED25	55013469	55013469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.474000	0.60203	2.091000	0.63221	0.533000	0.62120	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_030973			34	34		182	177	1		1	1		0	0	36	0		1	9.983383e-01	0	15	0	41	0	34	182
PTOV1	53635	broad.mit.edu	37	19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000601675.1	+	2	307	c.203C>A	c.(202-204)cCc>cAc	p.P68H	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1-AS1_ENST00000596521.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCACTGGGTCCCATCGGTCCC	0.667																																						ENST00000601675.1	1.000000	0.260000	4.800000e-01	3.200000e-01	0.380000	0.435720	0.380000	0.380000																										0				16						c.(202-204)cCc>cAc		prostate tumor overexpressed 1							94.0	105.0	101.0					19																	50357694		2203	4300	6503	SO:0001583	missense	53635	0	0					g.chr19:50357694C>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.203C>A	chr19.hg19:g.50357694C>A	ENSP00000472816:p.Pro68His	0					PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|MIR4749_ENST00000578197.1_RNA|PTOV1-AS1_ENST00000596521.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H	p.P68H			1	2	3	2.010022	Q86YD1	PTOV1_HUMAN		2	307	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	1	1	hg19	c.203C>A	CCDS12782.1	0	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403721	0.62288	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.92	3.92	0.45320	3.92	3.92	0.45320	.	0.184196	0.34002	U	0.004353	T	0.50205	0.1602	N	0.19112	0.55	0.33612	D	0.603735	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69479	0.907;0.897;0.964	T	0.62909	-0.6754	9	0.87932	D	0	-35.9482	11.7343	0.51757	0.0:1.0:0.0:0.0	.	36;68;36	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	H	36;68	.	ENSP00000221557:P36H	P	+	2	0	0	PTOV1	55049506	55049506	0.820000	0.29190	1.000000	0.80357	0.914000	0.54420	2.292000	0.43549	2.476000	0.83614	0.563000	0.77884	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	0	0	1		2	2	2	0		0	0	174		174	170	1	2.060000	-2.836887	1	0.170000	NM_017432			34	33		1035	1016	0		1	1		0	0	174	0		1	9.597733e-01	0	10	0	150	0	34	1035
PTOV1	53635	broad.mit.edu	37	19	50358292	50358292	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000601675.1	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000600603.1_Silent_p.C140C|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000391842.1_Silent_p.C172C|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Silent_p.C140C			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637																																						ENST00000601675.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.993119	0.990000	1.000000																										0				16						c.(514-516)tgC>tgT		prostate tumor overexpressed 1							41.0	35.0	37.0					19																	50358292		2202	4300	6502	SO:0001819	synonymous_variant	53635	3	121186	27				g.chr19:50358292C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.516C>T	chr19.hg19:g.50358292C>T		0					PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_Silent_p.C172C|PTOV1_ENST00000221557.9_Silent_p.C140C|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Silent_p.C172C|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000600603.1_Silent_p.C140C	p.C172C			1	2	3	2.010022	Q86YD1	PTOV1_HUMAN		5	620	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	0	1	hg19	c.516C>T	CCDS12782.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-15.673820	1	0.170000	NM_017432			8	8		41	38	1		1	1		0	0	13	0		9.888721e-01	1	0	74	0	330	0	8	41
TBC1D17	79735	broad.mit.edu	37	19	50386980	50386980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50386980G>A	ENST00000221543.5	+	10	1403	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TBC1D17_ENST00000535102.2_Silent_p.L335L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	368	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCACTTCTGCATGGATACC	0.557																																						ENST00000221543.5	1.000000	0.170000	5.700000e-01	2.600000e-01	0.380000	0.438103	0.380000	0.350000																										0				15						c.(1102-1104)ctG>ctA		TBC1 domain family, member 17							127.0	100.0	110.0					19																	50386980		2203	4300	6503	SO:0001819	synonymous_variant	79735	0	0					g.chr19:50386980G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1104G>A	chr19.hg19:g.50386980G>A		0					TBC1D17_ENST00000535102.2_Silent_p.L335L	p.L368L	NM_024682.2	NP_078958	1	2	3	2.010022	Q9HA65	TBC17_HUMAN		10	1403	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	0	1	hg19	c.1104G>A	CCDS12785.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	0	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-8.896262	1	0.170000	NM_024682			8	8		260	258	0		1	1		0	0	51	0		9.891779e-01	9.569293e-01	0	15	0	167	0	8	260
TBC1D17	79735	broad.mit.edu	37	19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	443	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTTTCTGTGGCTTCATGGAG	0.592																																						ENST00000221543.5	1.000000	0.320000	6.300000e-01	4.000000e-01	0.490000	0.538426	0.490000	0.480000																										0				15						c.(1327-1329)gGc>gAc		TBC1 domain family, member 17							161.0	163.0	162.0					19																	50387800		2203	4300	6503	SO:0001583	missense	79735	0	0					g.chr19:50387800G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1328G>A	chr19.hg19:g.50387800G>A	ENSP00000221543:p.Gly443Asp	0					TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	p.G443D	NM_024682.2	NP_078958	1	2	3	2.010022	Q9HA65	TBC17_HUMAN		12	1627	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	1	1	hg19	c.1328G>A	CCDS12785.1	0	.	.	.	.	.	.	.	.	.	.	G	31	5.061458	0.93846	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11169	2.8;2.8	5.22	5.22	0.72569	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.979;0.992	T	0.30149	-0.9988	10	0.59425	D	0.04	-41.3911	16.2481	0.82460	0.0:0.0:1.0:0.0	.	410;443	F5H1W7;Q9HA65	.;TBC17_HUMAN	D	443;410	ENSP00000221543:G443D;ENSP00000446323:G410D	ENSP00000221543:G443D	G	+	2	0	0	TBC1D17	55079612	55079612	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.017000	0.57167	2.424000	0.82194	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-4.354557	1	0.170000	NM_024682			25	25		588	576	0		1	1		0	0	99	0		9.999998e-01	9.916779e-01	0	10	0	167	0	25	588
IL4I1	259307	broad.mit.edu	37	19	50393095	50393095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000391826.2	-	8	1678	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000595948.1_Silent_p.S534S	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	512						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			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)	TGGCCGTGTCCGATGCAGGCC	0.692																																						ENST00000391826.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1534-1536)tcG>tcA		interleukin 4 induced 1	Flavin adenine dinucleotide(DB03147)						45.0	44.0	44.0					19																	50393095		2202	4299	6501	SO:0001819	synonymous_variant	259307	0	0					g.chr19:50393095C>T	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.1536G>A	chr19.hg19:g.50393095C>T		0					MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000595948.1_Silent_p.S534S	p.S512S	NM_152899.1	NP_690863.1	1	2	3	2.010022	Q96RQ9	OXLA_HUMAN		8	1678	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	1	1	hg19	c.1536G>A	CCDS12787.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.433987	1	0.170000				50	50		226	226	1		1	0		0	0	46	0		1	9.999997e-01	0	0	0	105	0	50	226
KDM4B	23030	broad.mit.edu	37	19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	202	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632																																						ENST00000159111.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(604-606)Cac>Tac		lysine (K)-specific demethylase 4B							238.0	162.0	188.0					19																	5047658		2203	4300	6503	SO:0001583	missense	23030	0	0					g.chr19:5047658C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.604C>T	chr19.hg19:g.5047658C>T	ENSP00000159111:p.His202Tyr	0					KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y	p.H202Y	NM_015015.2	NP_055830	1	2	3	2.010022	O94953	KDM4B_HUMAN		6	822	+			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	1	1	hg19	c.604C>T	CCDS12138.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960249	0.92791	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71817	-0.6;-0.6;-0.6	4.32	4.32	0.51571	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94423	3.535	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	0.92139	0.5719	10	0.87932	D	0	-45.6557	16.9672	0.86290	0.0:1.0:0.0:0.0	.	202;202;202	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Y	202	ENSP00000159111:H202Y;ENSP00000371178:H202Y;ENSP00000440495:H202Y	ENSP00000159111:H202Y	H	+	1	0	0	KDM4B	4998658	4998658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_015015			95	94		472	469	1		1	1		0	0	127	0		1	9.979457e-01	0	5	0	43	0	95	472
NUP62	23636	broad.mit.edu	37	19	50412726	50412726	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	NUP62_ENST00000597723.1_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000352066.3_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000422090.2_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				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)			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)		CCAGCCCAAAGCCGCTGGGGT	0.592																																						ENST00000596217.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(337-339)ggC>ggA		nucleoporin 62kDa							73.0	77.0	76.0					19																	50412726		2203	4300	6503	SO:0001819	synonymous_variant	23636	0	0					g.chr19:50412726G>T	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.339C>A	chr19.hg19:g.50412726G>T		0					NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G	p.G113G			1	2	3	2.010022	P37198	NUP62_HUMAN		2	2226	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	1	1	hg19	c.339C>A	CCDS12788.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_153719			108	105		500	488	1		1	1		0	0	98	0		1	1	0	42	0	102	0	108	500
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000391821.2_Silent_p.F112F|ZNF473_ENST00000270617.3_Silent_p.F112F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					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)			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)		ACTCCAATTTCGGAGAAGCCT	0.473																																						ENST00000595661.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(334-336)ttC>ttT		zinc finger protein 473							64.0	64.0	64.0					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888	6	121412	39				g.chr19:50548036C>T	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.336C>T	chr19.hg19:g.50548036C>T		0					ZNF473_ENST00000391821.2_Silent_p.F112F|ZNF473_ENST00000270617.3_Silent_p.F112F|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F	p.F112F			1	2	3	2.010022	Q8WTR7	ZN473_HUMAN		6	831	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	1	1	hg19	c.336C>T	CCDS33077.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.987382	1	0.170000	XM_046390			71	70		257	253	0		1	1		0	0	79	0		1	9.700737e-01	0	5	0	18	0	71	257
ZNF473	25888	broad.mit.edu	37	19	50548627	50548627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000391821.2_Silent_p.E309E|ZNF473_ENST00000270617.3_Silent_p.E309E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	309			E -> G (in dbSNP:rs16981706).		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)			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)		AGCCTGGTGAGCATCAGAAAA	0.473																																						ENST00000595661.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(925-927)gaG>gaA		zinc finger protein 473							95.0	95.0	95.0					19																	50548627		2203	4300	6503	SO:0001819	synonymous_variant	25888	0	0					g.chr19:50548627G>A	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.927G>A	chr19.hg19:g.50548627G>A		0					ZNF473_ENST00000391821.2_Silent_p.E309E|ZNF473_ENST00000270617.3_Silent_p.E309E|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.E297E	p.E309E			1	2	3	2.010022	Q8WTR7	ZN473_HUMAN		6	1422	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	1	1	hg19	c.927G>A	CCDS33077.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	XM_046390			108	105		470	454	1		1	1		0	0	150	0		1	9.219010e-01	0	3	0	18	0	108	470
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					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.R694*(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)		TCAGCATGAGCGAACTCATGC	0.453																																						ENST00000595661.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R694*(1)	ovary(1)	37						c.(2080-2082)Cga>Tga		zinc finger protein 473							78.0	81.0	80.0					19																	50549780		2203	4300	6503	SO:0001587	stop_gained	25888	0	0					g.chr19:50549780C>T	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.2080C>T	chr19.hg19:g.50549780C>T	ENSP00000472808:p.Arg694*	0					ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*	p.R694*			1	2	3	2.010022	Q8WTR7	ZN473_HUMAN		6	2575	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	0	1	hg19	c.2080C>T	CCDS33077.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	2	ZNF473	55241592	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.150560	1	0.170000	XM_046390			62	61		331	326	1		1	1		0	0	86	0		1	9.724173e-01	0	7	0	26	0	62	331
ZNF473	25888	broad.mit.edu	37	19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	740					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)			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)		GAAGGCCTTCGGCCTGAGTGC	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2218-2220)Ggc>Agc		zinc finger protein 473							77.0	81.0	79.0					19																	50549918		2203	4300	6503	SO:0001583	missense	25888	1	121412	29				g.chr19:50549918G>A	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.2218G>A	chr19.hg19:g.50549918G>A	ENSP00000472808:p.Gly740Ser	0		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S	p.G740S			1	2	3	2.010022	Q8WTR7	ZN473_HUMAN		6	2713	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	1	1	hg19	c.2218G>A	CCDS33077.1	1	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051748	0.01981	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07114	3.22;3.22;3.22	4.17	-1.13	0.09775	4.17	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.670270	0.13095	N	0.414241	T	0.01800	0.0057	N	0.01122	-1.005	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.44174	-0.9345	10	0.02654	T	1	-0.0068	5.1114	0.14811	0.3631:0.0:0.475:0.1619	.	740	Q8WTR7	ZN473_HUMAN	S	740;740;728	ENSP00000270617:G740S;ENSP00000375697:G740S;ENSP00000388961:G728S	ENSP00000270617:G740S	G	+	1	0	0	ZNF473	55241730	55241730	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.786000	0.04623	-0.277000	0.09193	-0.312000	0.09012	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-20.000000	1	0.170000	XM_046390			71	71		317	309	1		1	1		0	0	90	0		1	9.966589e-01	0	10	0	31	0	71	317
KDM4B	23030	broad.mit.edu	37	19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	236	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657																																						ENST00000159111.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(706-708)Gac>Aac		lysine (K)-specific demethylase 4B							130.0	134.0	133.0					19																	5077407		2203	4300	6503	SO:0001583	missense	23030	0	0					g.chr19:5077407G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.706G>A	chr19.hg19:g.5077407G>A	ENSP00000159111:p.Asp236Asn	0					KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	p.D236N	NM_015015.2	NP_055830	1	2	3	2.010022	O94953	KDM4B_HUMAN		8	924	+			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	1	1	hg19	c.706G>A	CCDS12138.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.52	4.52	0.55395	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.013	B;B;B	0.18561	0.013;0.003;0.022	T	0.50792	-0.8786	10	0.39692	T	0.17	-28.7526	17.2595	0.87066	0.0:0.0:1.0:0.0	.	236;236;236	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	N	236	ENSP00000159111:D236N;ENSP00000371178:D236N;ENSP00000440495:D236N	ENSP00000159111:D236N	D	+	1	0	0	KDM4B	5028407	5028407	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	9.690000	0.98676	2.066000	0.61787	0.462000	0.41574	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	1	0	1		2	2	2	0		0	0	272		272	269	1	2.060000	-20.000000	1	0.170000	NM_015015			224	220		1156	1140	1		1	1		0	0	272	0		1	9.941731e-01	0	6	0	36	0	224	1156
MYH14	79784	broad.mit.edu	37	19	50726596	50726596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	ENST00000596571.1	+	4	683	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_ENST00000440075.2_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	228	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			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)		AGGAAGGAGCCGGGTGTCCCC	0.627																																						ENST00000596571.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				46						c.(682-684)cCg>cAg		myosin, heavy chain 14, non-muscle							36.0	42.0	40.0					19																	50726596		2128	4260	6388	SO:0001583	missense	79784	0	0					g.chr19:50726596C>A	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.683C>A	chr19.hg19:g.50726596C>A	ENSP00000472819:p.Pro228Gln	0					MYH14_ENST00000440075.2_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q	p.P228Q			1	2	3	2.010022	Q7Z406	MYH14_HUMAN		4	683	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	1	1	hg19	c.683C>A	CCDS59411.1	1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122598	0.01785	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71341	-0.56;-0.55;-0.56;-0.56	4.49	3.38	0.38709	4.49	3.38	0.38709	Myosin head, motor domain (2);	.	.	.	.	T	0.56171	0.1967	N	0.20530	0.585	0.38806	D	0.9553	P;B;B	0.48230	0.907;0.082;0.004	P;B;B	0.46850	0.529;0.199;0.019	T	0.49899	-0.8890	9	0.15952	T	0.53	.	9.4335	0.38624	0.31:0.69:0.0:0.0	.	228;228;228	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	228	ENSP00000406273:P228Q;ENSP00000366169:P228Q;ENSP00000407879:P228Q;ENSP00000262269:P228Q	ENSP00000262269:P228Q	P	+	2	0	0	MYH14	55418408	55418408	0.978000	0.34361	0.950000	0.38849	0.176000	0.22953	3.532000	0.53553	2.508000	0.84585	0.579000	0.79373	CCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999990	1	0.170000	NM_024729			12	12		35	35	1		1	1		0	0	12	0		9.995328e-01	1	0	89	0	136	0	12	35
MYH14	79784	broad.mit.edu	37	19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000596571.1	+	32	4741	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1581					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)			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)		TGCCAAGCTGCGTCTGGAGGT	0.617																																						ENST00000596571.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.997421	0.990000	1.000000																										0				46						c.(4741-4743)Cgt>Tgt		myosin, heavy chain 14, non-muscle							46.0	55.0	52.0					19																	50792804		2194	4292	6486	SO:0001583	missense	79784	0	0					g.chr19:50792804C>T	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.4741C>T	chr19.hg19:g.50792804C>T	ENSP00000472819:p.Arg1581Cys	0					MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C	p.R1581C			1	2	3	2.010022	Q7Z406	MYH14_HUMAN		32	4741	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	0	1	hg19	c.4741C>T	CCDS59411.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565019	0.86439	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.25	4.25	0.50352	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.92756	0.7697	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.93907	0.7193	9	0.87932	D	0	.	14.5171	0.67826	0.0:1.0:0.0:0.0	.	1622;1581;1589	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1622;1614;1589;1365;1622	ENSP00000406273:R1622C;ENSP00000366169:R1614C;ENSP00000407879:R1589C;ENSP00000262269:R1622C	ENSP00000262269:R1622C	R	+	1	0	0	MYH14	55484616	55484616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.523000	0.60545	2.371000	0.80710	0.491000	0.48974	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_024729			16	16		100	100	1		1	1		0	0	20	0		9.999554e-01	1	0	276	0	298	0	16	100
MYH14	79784	broad.mit.edu	37	19	50796920	50796920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000596571.1	+	36	5322	c.5322C>T	c.(5320-5322)gaC>gaT	p.D1774D	MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000598205.1_Silent_p.D1782D|MYH14_ENST00000425460.1_Silent_p.D1782D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1774					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)			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)		TGCTCAATGACCGCTACCGCA	0.612																																						ENST00000596571.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(5320-5322)gaC>gaT		myosin, heavy chain 14, non-muscle							50.0	51.0	51.0					19																	50796920		2192	4294	6486	SO:0001819	synonymous_variant	79784	0	0					g.chr19:50796920C>T	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.5322C>T	chr19.hg19:g.50796920C>T		0					MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000598205.1_Silent_p.D1782D	p.D1774D			1	2	3	2.010022	Q7Z406	MYH14_HUMAN		36	5322	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	1	1	hg19	c.5322C>T	CCDS59411.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_024729			49	48		163	162	0		1	1		0	0	55	0		1	1	0	189	0	287	0	49	163
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000596571.1	+	37	5381	c.5381G>A	c.(5380-5382)cGc>cAc	p.R1794H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1794					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)			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)		TCAGCTGAGCGCAGTTTCTCA	0.612																																						ENST00000596571.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				46						c.(5380-5382)cGc>cAc		myosin, heavy chain 14, non-muscle							40.0	45.0	44.0					19																	50804952		2062	4227	6289	SO:0001583	missense	79784	1	121018	31				g.chr19:50804952G>A	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.5381G>A	chr19.hg19:g.50804952G>A	ENSP00000472819:p.Arg1794His	0					MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H	p.R1794H			1	2	3	2.010022	Q7Z406	MYH14_HUMAN		37	5381	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	1	1	hg19	c.5381G>A	CCDS59411.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888252	0.91814	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.08	4.08	0.47627	4.08	4.08	0.47627	Myosin tail (1);	.	.	.	.	D	0.89570	0.6753	M	0.82630	2.6	0.47905	D	0.999542	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91176	0.4972	9	0.87932	D	0	.	14.1423	0.65327	0.0:0.0:1.0:0.0	.	1835;1794;1802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1835;1827;1802;1578;1835	ENSP00000406273:R1835H;ENSP00000366169:R1827H;ENSP00000407879:R1802H;ENSP00000262269:R1835H	ENSP00000262269:R1835H	R	+	2	0	0	MYH14	55496764	55496764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.594000	0.82698	2.274000	0.75844	0.591000	0.81541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_024729			45	45		243	240	1		1	1		0	0	47	0		1	1	0	184	0	223	0	45	243
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					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)			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)		CAAGCAGAGGCGGACGCCATT	0.632																																						ENST00000253719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1054-1056)cGc>cAc		napsin A aspartic peptidase							23.0	24.0	24.0					19																	50862018		2201	4298	6499	SO:0001583	missense	9476	1	121344	26				g.chr19:50862018C>T	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.1055G>A	chr19.hg19:g.50862018C>T	ENSP00000253719:p.Arg352His	0					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R352H	NM_004851.1	NP_004842.1	1	2	3	2.010022	O96009	NAPSA_HUMAN		9	1263	-		all_neural(266;0.057)	Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	1	1	hg19	c.1055G>A	CCDS12794.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610610	0.46527	.	.	ENSG00000131400	ENST00000253719	T	0.57907	0.37	3.24	2.11	0.27256	3.24	2.11	0.27256	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.265940	0.04994	N	0.467899	T	0.52565	0.1742	L	0.35341	1.055	0.09310	N	1	P	0.52842	0.956	P	0.49597	0.616	T	0.47420	-0.9119	10	0.72032	D	0.01	.	9.4839	0.38917	0.0:0.5772:0.4228:0.0	.	352	O96009	NAPSA_HUMAN	H	352	ENSP00000253719:R352H	ENSP00000253719:R352H	R	-	2	0	0	NAPSA	55553830	55553830	0.000000	0.05858	0.556000	0.28293	0.409000	0.31022	-0.308000	0.08156	0.569000	0.29329	0.313000	0.20887	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_004851			35	35		116	114	1		1	0		0	0	14	0		1	1.418763e-01	0	1	0	2	0	35	116
NR1H2	7376	broad.mit.edu	37	19	50881511	50881511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881511G>A	ENST00000253727.5	+	5	522	c.287G>A	c.(286-288)gGc>gAc	p.G96D	NR1H2_ENST00000598168.1_Missense_Mutation_p.G96D|NR1H2_ENST00000599105.1_Missense_Mutation_p.G96D|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.G96D	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	96					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AAGGCCTCCGGCTTCCACTAC	0.657																																						ENST00000253727.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(286-288)gGc>gAc		nuclear receptor subfamily 1, group H, member 2							94.0	110.0	104.0					19																	50881511		2192	4298	6490	SO:0001583	missense	7376	1	121380	35				g.chr19:50881511G>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.287G>A	chr19.hg19:g.50881511G>A	ENSP00000253727:p.Gly96Asp	0					NR1H2_ENST00000593926.1_Missense_Mutation_p.G96D|NR1H2_ENST00000598168.1_Missense_Mutation_p.G96D|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.G96D	p.G96D	NM_007121.5	NP_009052	1	2	3	2.010022	P55055	NR1H2_HUMAN		5	522	+		all_neural(266;0.057)	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	1	0	hg19	c.287G>A	CCDS42593.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505437	0.85282	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.98701	-5.08	4.74	4.74	0.60224	4.74	4.74	0.60224	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	D	0.000008	D	0.99429	0.9798	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98319	1.0527	10	0.87932	D	0	.	17.0258	0.86446	0.0:0.0:1.0:0.0	.	96;96	P55055;F1D8P7	NR1H2_HUMAN;.	D	96	ENSP00000253727:G96D	ENSP00000253727:G96D	G	+	2	0	0	NR1H2	55573323	55573323	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	9.203000	0.95033	2.633000	0.89246	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2	1	0	1		2	2	2	0		0	0	250		250	245	1	2.060000	-1.736342	0	0.170000				254	251		1013	995	1		1	1		0	0	250	0		1	1	0	142	0	297	0	254	1013
NR1H2	7376	broad.mit.edu	37	19	50881936	50881936	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.G210G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	210					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCAGCCAGGGCTCCGGGGAAG	0.642																																						ENST00000253727.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				8						c.(628-630)ggC>ggT		nuclear receptor subfamily 1, group H, member 2							34.0	43.0	40.0					19																	50881936		2108	4248	6356	SO:0001819	synonymous_variant	7376	0	0					g.chr19:50881936C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.630C>T	chr19.hg19:g.50881936C>T		0					NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000599105.1_Silent_p.G210G	p.G210G	NM_007121.5	NP_009052	1	2	3	2.010022	P55055	NR1H2_HUMAN		6	865	+		all_neural(266;0.057)	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	1	1	hg19	c.630C>T	CCDS42593.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				40	40		239	235	1		1	1		0	0	55	0		1	1	0	196	0	520	0	40	239
POLD1	5424	broad.mit.edu	37	19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	311					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCCTTGCGCGTGCTCAGC	0.672								DNA polymerases (catalytic subunits)																														ENST00000440232.2	1.000000	0.700000	1	9.500000e-01	0.990000	0.970167	0.990000	1.000000																										0				39						c.(931-933)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							27.0	26.0	26.0					19																	50905960		2202	4297	6499	SO:0001583	missense	5424	2	121338	30				g.chr19:50905960G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.932G>A	chr19.hg19:g.50905960G>A	ENSP00000406046:p.Arg311His	0					POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	1	2	3	2.010022	P28340	DPOD1_HUMAN		8	985	+		all_neural(266;0.0571)	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	0	1	hg19	c.932G>A	CCDS12795.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679948	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12672	2.66	4.69	2.32	0.28847	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	D	0.000019	T	0.34135	0.0887	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.28170	-1.0052	10	0.87932	D	0	-11.8143	13.4259	0.61026	0.0:0.3003:0.6997:0.0	.	311;311	E7EVW0;P28340	.;DPOD1_HUMAN	H	311;312	ENSP00000406046:R311H	ENSP00000366129:R312H	R	+	2	0	0	POLD1	55597772	55597772	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	5.595000	0.67563	1.084000	0.41184	0.491000	0.48974	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-18.795650	1	0.170000				12	12		103	100	1		1	1		0	0	20	1		9.991613e-01	8.164165e-01	0	3	0	26	0	12	103
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542																																						ENST00000357701.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				1						c.(685-687)atC>atT		myosin binding protein C, fast type							41.0	45.0	44.0					19																	50944251		2093	4247	6340	SO:0001819	synonymous_variant	4606	0	0					g.chr19:50944251C>T		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.687C>T	chr19.hg19:g.50944251C>T		0						p.I229I	NM_004533.3	NP_004524.3	1	2	3	2.010022	Q14324	MYPC2_HUMAN		8	738	+		all_neural(266;0.057)	A1L4G9	Silent	SNP	ENST00000357701.5	1	1	hg19	c.687C>T	CCDS46152.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-16.866690	1	0.170000	NM_004533			23	23		83	82	1		1	0		0	0	24	0		9.999997e-01	5.096840e-02	0	1	0	1	0	23	83
MYBPC2	4606	broad.mit.edu	37	19	50958825	50958825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	754	Fibronectin type-III 2. {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)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592																																						ENST00000357701.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(2260-2262)acA>acG		myosin binding protein C, fast type							93.0	96.0	95.0					19																	50958825		2013	4179	6192	SO:0001819	synonymous_variant	4606	0	0					g.chr19:50958825A>G		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.2262A>G	chr19.hg19:g.50958825A>G		0						p.T754T	NM_004533.3	NP_004524.3	1	2	3	2.010022	Q14324	MYPC2_HUMAN		20	2313	+		all_neural(266;0.057)	A1L4G9	Silent	SNP	ENST00000357701.5	1	1	hg19	c.2262A>G	CCDS46152.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	0	0	1		15	2	2	1		1	1	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_004533			96	93		422	411	1		1	0		1	0	127	0		1	3.495341e-02	0	0	0	2	0	96	422
JOSD2	126119	broad.mit.edu	37	19	51010878	51010878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000391815.3_Silent_p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	75	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667																																						ENST00000598418.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(223-225)gcC>gcT		Josephin domain containing 2							82.0	89.0	87.0					19																	51010878		2203	4300	6503	SO:0001819	synonymous_variant	126119	4	121294	39				g.chr19:51010878G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.225C>T	chr19.hg19:g.51010878G>A		0					JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000391815.3_Silent_p.A75A	p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	1	2	3	2.010022	Q8TAC2	JOS2_HUMAN		3	478	-		all_neural(266;0.131)	M0QX25	Silent	SNP	ENST00000598418.1	1	1	hg19	c.225C>T	CCDS12797.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-3.319541	1	0.170000	NM_138334			136	135		712	693	1		1	1		0	0	120	0		1	9.999906e-01	0	11	0	75	0	136	712
LRRC4B	94030	broad.mit.edu	37	19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C	rs201087269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGACACCGTCTGTCGTGGG	0.741													T|||	1	0.000199681	0.0	0.0014	5008	,	,		11092	0.0		0.0	False		,,,				2504	0.0					ENST00000599957.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				30						c.(1555-1557)gAc>gGc		leucine rich repeat containing 4B							8.0	10.0	9.0					19																	51021414		1781	3942	5723	SO:0001583	missense	94030	27	118564	38				g.chr19:51021414T>C	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1556A>G	chr19.hg19:g.51021414T>C	ENSP00000471502:p.Asp519Gly	0					LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G	p.D519G			1	2	3	2.010022	Q9NT99	LRC4B_HUMAN		3	1753	-		all_neural(266;0.131)	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	1	1	hg19	c.1556A>G	CCDS42595.1	1	6	0.0027472527472527475	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.906	-0.020995	0.07634	.	.	ENSG00000131409	ENST00000389201	T	0.59083	0.29	3.05	3.05	0.35203	3.05	3.05	0.35203	.	0.535452	0.15013	N	0.285479	T	0.25827	0.0629	N	0.08118	0	0.23496	N	0.997551	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.22706	T	0.39	.	9.4792	0.38891	0.0:0.0:0.0:1.0	.	519	Q9NT99	LRC4B_HUMAN	G	519	ENSP00000373853:D519G	ENSP00000373853:D519G	D	-	2	0	0	LRRC4B	55713226	55713226	0.001000	0.12720	0.892000	0.35008	0.313000	0.28021	0.541000	0.23207	1.393000	0.46605	0.379000	0.24179	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_001080457			25	24		109	103	0		1	0		0	0	14	0		9.999999e-01	0	0	1	0	0	0	25	109
LRRC4B	94030	broad.mit.edu	37	19	51021716	51021716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652																																						ENST00000599957.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1252-1254)gaC>gaT		leucine rich repeat containing 4B							64.0	73.0	70.0					19																	51021716		2196	4278	6474	SO:0001819	synonymous_variant	94030	0	0					g.chr19:51021716G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1254C>T	chr19.hg19:g.51021716G>A		0					LRRC4B_ENST00000389201.3_Silent_p.D418D	p.D418D			1	2	3	2.010022	Q9NT99	LRC4B_HUMAN		3	1451	-		all_neural(266;0.131)	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	1	1	hg19	c.1254C>T	CCDS42595.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_001080457			51	51		264	263	1		1	0		0	0	47	0		1	7.276287e-02	0	0	0	3	0	51	264
LRRC4B	94030	broad.mit.edu	37	19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	361	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCGCATAGCAGGTGAAAT	0.667																																						ENST00000599957.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1081-1083)tgC>tgA		leucine rich repeat containing 4B							49.0	55.0	53.0					19																	51021887		2108	4221	6329	SO:0001587	stop_gained	94030	0	0					g.chr19:51021887G>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1083C>A	chr19.hg19:g.51021887G>T	ENSP00000471502:p.Cys361*	0					LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*	p.C361*			1	2	3	2.010022	Q9NT99	LRC4B_HUMAN		3	1280	-		all_neural(266;0.131)	Q3ZCQ4|Q58F20	Nonsense_Mutation	SNP	ENST00000599957.1	0	1	hg19	c.1083C>A	CCDS42595.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.798000	0.96952	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.9	3.9	0.45041	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000373853:C361X	C	-	3	2	2	LRRC4B	55713699	55713699	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	2.192000	0.70111	0.561000	0.74099	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_001080457			53	52		243	239	1		1	0		0	0	41	0		1	1.537537e-01	0	1	0	3	0	53	243
LRRC4B	94030	broad.mit.edu	37	19	51022052	51022052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	306					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTGAGGTGCACGCGCTCGA	0.642																																						ENST00000599957.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(916-918)gtG>gtA		leucine rich repeat containing 4B							79.0	91.0	87.0					19																	51022052		2176	4265	6441	SO:0001819	synonymous_variant	94030	0	0					g.chr19:51022052C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.918G>A	chr19.hg19:g.51022052C>T		0					LRRC4B_ENST00000389201.3_Silent_p.V306V	p.V306V			1	2	3	2.010022	Q9NT99	LRC4B_HUMAN		3	1115	-		all_neural(266;0.131)	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	1	1	hg19	c.918G>A	CCDS42595.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.798659	1	0.170000	NM_001080457			103	101		386	379	1		1	1		0	0	88	0		1	2.873938e-01	0	4	0	1	0	103	386
SYT3	84258	broad.mit.edu	37	19	51128446	51128446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000593901.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	560					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGTGCTCCACGGGCTTGCGGG	0.677																																						ENST00000338916.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997873	0.990000	1.000000																										0				35						c.(1678-1680)ccC>ccT		synaptotagmin III							41.0	35.0	37.0					19																	51128446		2203	4300	6503	SO:0001819	synonymous_variant	84258	6	121186	32				g.chr19:51128446G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1680C>T	chr19.hg19:g.51128446G>A		0					SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P	p.P560P	NM_032298.2	NP_115674.1	1	2	3	2.010022	Q9BQG1	SYT3_HUMAN		7	2313	-		all_neural(266;0.131)	Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	1	1	hg19	c.1680C>T	CCDS12798.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.997600	1	0.170000	NM_032298			13	13		71	71	1		1	0		0	0	19	0		9.996809e-01	0	0	1	0	0	0	13	71
SYT3	84258	broad.mit.edu	37	19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000593901.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	347	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622																																						ENST00000338916.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1039-1041)Cgc>Tgc		synaptotagmin III							61.0	61.0	61.0					19																	51133064		2203	4300	6503	SO:0001583	missense	84258	0	0					g.chr19:51133064G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1039C>T	chr19.hg19:g.51133064G>A	ENSP00000340914:p.Arg347Cys	0					SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C	p.R347C	NM_032298.2	NP_115674.1	1	2	3	2.010022	Q9BQG1	SYT3_HUMAN		3	1672	-		all_neural(266;0.131)	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	1	1	hg19	c.1039C>T	CCDS12798.1	1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725553	0.68959	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09073	3.02;3.02	4.67	4.67	0.58626	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.24967	0.0606	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.00891	-1.1525	10	0.87932	D	0	.	16.7093	0.85381	0.0:0.0:1.0:0.0	.	347	Q9BQG1	SYT3_HUMAN	C	347	ENSP00000340914:R347C;ENSP00000438883:R347C	ENSP00000340914:R347C	R	-	1	0	0	SYT3	55824876	55824876	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	2.641000	0.46587	2.301000	0.77427	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-2.973798	1	0.170000	NM_032298			100	96		389	384	0		1	0		0	0	92	0		1	0	0	0	0	1	0	100	389
SHANK1	50944	broad.mit.edu	37	19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2026			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTAGAGGGGTCCGGAAGGCAG	0.716																																						ENST00000293441.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				64						c.(6076-6078)gGa>gAa		SH3 and multiple ankyrin repeat domains 1							18.0	18.0	18.0					19																	51165631		2180	4266	6446	SO:0001583	missense	50944	0	0					g.chr19:51165631C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6077G>A	chr19.hg19:g.51165631C>T	ENSP00000293441:p.Gly2026Glu	0					SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E	p.G2026E	NM_016148.2	NP_057232.2	1	2	3	2.010022	Q9Y566	SHAN1_HUMAN		23	6095	-		all_neural(266;0.057)	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	1	1	hg19	c.6077G>A	CCDS12799.1	1	.	.	.	.	.	.	.	.	.	.	c	8.484	0.860483	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36520	1.37;1.82;1.36;1.25	3.46	3.46	0.39613	3.46	3.46	0.39613	.	0.593958	0.14308	U	0.327895	T	0.33469	0.0864	L	0.40543	1.245	0.27133	N	0.961838	P;P	0.45827	0.652;0.867	B;P	0.47645	0.173;0.553	T	0.12016	-1.0564	10	0.49607	T	0.09	.	6.4576	0.21938	0.204:0.5973:0.1986:0.0	.	2026;1413	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	2026;1413;2017;2034	ENSP00000293441:G2026E;ENSP00000375689:G1413E;ENSP00000351984:G2017E;ENSP00000375690:G2034E	ENSP00000293441:G2026E	G	-	2	0	0	SHANK1	55857443	55857443	0.000000	0.05858	0.993000	0.49108	0.979000	0.70002	0.447000	0.21710	1.940000	0.56252	0.455000	0.32223	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_016148			19	19		69	65	1		1			0	0	19	0		9.999937e-01	0	0	0	0	0	0	19	69
SHANK1	50944	broad.mit.edu	37	19	51169770	51169770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	ENST00000293441.1	-	22	5465	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1816					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCTACAGCCACCGGACCCCC	0.726																																						ENST00000293441.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997805	0.990000	1.000000																										0				64						c.(5446-5448)gTg>gCg		SH3 and multiple ankyrin repeat domains 1							4.0	5.0	5.0					19																	51169770		2028	4027	6055	SO:0001583	missense	50944	0	0					g.chr19:51169770A>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5447T>C	chr19.hg19:g.51169770A>G	ENSP00000293441:p.Val1816Ala	0					SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A	p.V1816A	NM_016148.2	NP_057232.2	1	2	3	2.010022	Q9Y566	SHAN1_HUMAN		22	5465	-		all_neural(266;0.057)	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	0	1	hg19	c.5447T>C	CCDS12799.1	1	.	.	.	.	.	.	.	.	.	.	A	2.736	-0.263213	0.05754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37235	1.33;1.73;1.31;1.21	2.59	0.147	0.14838	2.59	0.147	0.14838	.	2.425490	0.03225	U	0.178136	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.09422	-1.0675	10	0.10377	T	0.69	.	3.9956	0.09556	0.4176:0.4464:0.136:0.0	.	1816;1203	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	A	1816;1203;1807;1824	ENSP00000293441:V1816A;ENSP00000375689:V1203A;ENSP00000351984:V1807A;ENSP00000375690:V1824A	ENSP00000293441:V1816A	V	-	2	0	0	SHANK1	55861582	55861582	0.163000	0.22920	0.055000	0.19348	0.589000	0.36550	0.444000	0.21661	-0.171000	0.10797	0.164000	0.16699	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1		12	2	2	0		0	1	16		16	16	1	2.060000	-19.955410	1	0.170000	NM_016148			11	11		54	54	0		0	0		0	0	16	0		4.838076e-01	0	0	0	0	1	0	11	54
SHANK1	50944	broad.mit.edu	37	19	51220126	51220126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	ENST00000293441.1	-	1	69	c.51C>T	c.(49-51)agC>agT	p.S17S	SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736																																						ENST00000293441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(49-51)agC>agT		SH3 and multiple ankyrin repeat domains 1							13.0	14.0	13.0					19																	51220126		2185	4267	6452	SO:0001819	synonymous_variant	50944	0	0					g.chr19:51220126G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.51C>T	chr19.hg19:g.51220126G>A		0					SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	p.S17S	NM_016148.2	NP_057232.2	1	2	3	2.010022	Q9Y566	SHAN1_HUMAN		1	69	-		all_neural(266;0.057)	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	1	1	hg19	c.51C>T	CCDS12799.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_016148			26	26		61	60	0		1	0		0	0	14	0		1	0	0	0	0	1	0	26	61
CLEC11A	6320	broad.mit.edu	37	19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	42					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637																																						ENST00000250340.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(124-126)gAg>gTg		C-type lectin domain family 11, member A							57.0	57.0	57.0					19																	51226907		2203	4300	6503	SO:0001583	missense	6320	0	0					g.chr19:51226907A>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.125A>T	chr19.hg19:g.51226907A>T	ENSP00000250340:p.Glu42Val	0					CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	p.E42V	NM_002975.2	NP_002966.1	1	2	3	2.010022	Q9Y240	CLC11_HUMAN		1	322	+		all_neural(266;0.057)	B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	1	1	hg19	c.125A>T	CCDS12800.1	1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838773	0.51057	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.46819	0.86	3.09	3.09	0.35607	3.09	3.09	0.35607	.	0.279407	0.22182	N	0.063482	T	0.34308	0.0893	L	0.27053	0.805	0.32344	N	0.55937	P	0.45348	0.856	B	0.42995	0.404	T	0.50013	-0.8877	10	0.87932	D	0	-10.7094	7.8693	0.29556	1.0:0.0:0.0:0.0	.	42	Q9Y240	CLC11_HUMAN	V	42	ENSP00000250340:E42V	ENSP00000250340:E42V	E	+	2	0	0	CLEC11A	55918719	55918719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.855000	0.48333	1.430000	0.47334	0.379000	0.24179	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_002975			46	43		146	136	1		1	0		0	0	28	0		1	1	0	0	0	110	0	46	146
CLEC11A	6320	broad.mit.edu	37	19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	237	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726																																						ENST00000250340.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.992613	0.990000	1.000000																										0				7						c.(709-711)Ccc>Tcc		C-type lectin domain family 11, member A							7.0	10.0	9.0					19																	51228461		2126	4215	6341	SO:0001583	missense	6320	1	119432	19				g.chr19:51228461C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.709C>T	chr19.hg19:g.51228461C>T	ENSP00000250340:p.Pro237Ser	0					CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	p.P237S	NM_002975.2	NP_002966.1	1	2	3	2.010022	Q9Y240	CLC11_HUMAN		4	906	+		all_neural(266;0.057)	B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	0	1	hg19	c.709C>T	CCDS12800.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892560	0.91889	.	.	ENSG00000105472	ENST00000250340	T	0.15952	2.38	3.91	3.91	0.45181	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212847	0.39834	N	0.001246	T	0.27967	0.0689	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.02519	-1.1147	10	0.27785	T	0.31	-23.8668	15.1898	0.73035	0.0:1.0:0.0:0.0	.	237	Q9Y240	CLC11_HUMAN	S	237	ENSP00000250340:P237S	ENSP00000250340:P237S	P	+	1	0	0	CLEC11A	55920273	55920273	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.160000	0.71862	2.177000	0.69029	0.455000	0.32223	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-17.175100	1	0.170000	NM_002975			9	9		51	49	0		1	0		0	0	12	0		9.946425e-01	6.195060e-01	0	0	0	13	0	9	51
GPR32	2854	broad.mit.edu	37	19	51274701	51274701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51274701C>T	ENST00000270590.4	+	1	981	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	282					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCATCTGTGGCGACGGGTGAT	0.582																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4	1.000000	0.230000	5.300000e-01	3.000000e-01	0.390000	0.447313	0.390000	0.380000																										0				29						c.(844-846)Cga>Tga		G protein-coupled receptor 32							91.0	90.0	90.0					19																	51274701		2203	4300	6503	SO:0001587	stop_gained	2854	0	0					g.chr19:51274701C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.844C>T	chr19.hg19:g.51274701C>T	ENSP00000270590:p.Arg282*	0						p.R282*	NM_001506.1	NP_001497.1	1	2	3	2.010022	O75388	GPR32_HUMAN		1	981	+		all_neural(266;0.131)	Q502U7|Q6NWS5	Nonsense_Mutation	SNP	ENST00000270590.4	0	1	hg19	c.844C>T	CCDS12801.1	0	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656333	0.47467	.	.	ENSG00000142511	ENST00000270590	.	.	.	1.99	-1.38	0.09027	1.99	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.3727	0.16148	0.2073:0.3822:0.4105:0.0	.	.	.	.	X	282	.	ENSP00000270590:R282X	R	+	1	2	2	GPR32	55966513	55966513	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-0.521000	0.06245	-0.399000	0.07668	0.313000	0.20887	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.323454	1	0.170000				17	16		512	505	0		1			0	0	81	0		9.999612e-01	0	0	0	0	0	0	17	512
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000598239.1	-	3	341	c.311G>A	c.(310-312)cGc>cAc	p.R104H	KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000326856.4_Missense_Mutation_p.R103H|KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697																																					Pancreas(140;10 2513 7143 9246)	ENST00000598239.1	1.000000	0.360000	7.100000e-01	4.500000e-01	0.560000	0.596674	0.560000	0.540000																										0				24						c.(310-312)cGc>cAc		kallikrein-related peptidase 15							65.0	58.0	61.0					19																	51330304		2200	4298	6498	SO:0001583	missense	55554	0	0					g.chr19:51330304C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.311G>A	chr19.hg19:g.51330304C>T	ENSP00000469315:p.Arg104His	0					KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000326856.4_Missense_Mutation_p.R103H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H	p.R104H	NM_017509.2	NP_059979.2	1	2	3	2.010022	Q9H2R5	KLK15_HUMAN		3	341	-		all_neural(266;0.057)	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	1	1	hg19	c.311G>A	CCDS12805.1	0	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584354	0.46110	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88586	-2.4;-2.4	4.39	-8.27	0.01017	4.39	-8.27	0.01017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	T	0.72095	0.3418	N	0.11673	0.155	0.09310	N	0.999995	B;B;B;B	0.28419	0.097;0.063;0.211;0.208	B;B;B;B	0.30716	0.038;0.032;0.119;0.11	T	0.62581	-0.6824	10	0.59425	D	0.04	.	5.7109	0.17935	0.5217:0.2582:0.0:0.22	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	104	ENSP00000415136:R104H;ENSP00000301421:R104H	ENSP00000301421:R104H	R	-	2	0	0	KLK15	56022116	56022116	0.014000	0.17966	0.002000	0.10522	0.227000	0.25037	0.169000	0.16641	-1.179000	0.02737	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-4.792672	1	0.170000	NM_017509			25	25		518	511	0		1			0	0	102	0		9.999998e-01	0	0	0	0	0	0	25	518
KLK15	55554	broad.mit.edu	37	19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T	rs200999769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000598239.1	-	2	155	c.125G>A	c.(124-126)cGt>cAt	p.R42H	KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|KLK15_ENST00000326856.4_Missense_Mutation_p.R41H|KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AAAGCGTCCACGCTCGTAGAG	0.607																																					Pancreas(140;10 2513 7143 9246)	ENST00000598239.1	1.000000	0.430000	1	5.800000e-01	0.750000	0.767021	0.750000	1.000000																										0				24						c.(124-126)cGt>cAt		kallikrein-related peptidase 15							99.0	72.0	81.0					19																	51330990		2203	4296	6499	SO:0001583	missense	55554	0	0					g.chr19:51330990C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.125G>A	chr19.hg19:g.51330990C>T	ENSP00000469315:p.Arg42His	0					KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000326856.4_Missense_Mutation_p.R41H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H	p.R42H	NM_017509.2	NP_059979.2	1	2	3	2.010022	Q9H2R5	KLK15_HUMAN		2	155	-		all_neural(266;0.057)	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	1	1	hg19	c.125G>A	CCDS12805.1	0	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218055	0.39201	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93019	-3.15;-3.15	4.66	1.38	0.22167	4.66	1.38	0.22167	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.345819	0.20904	N	0.083599	D	0.86502	0.5948	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.28419	0.036;0.067;0.211;0.059	B;B;B;B	0.24269	0.002;0.052;0.032;0.051	T	0.76299	-0.3010	10	0.41790	T	0.15	.	8.055	0.30600	0.0:0.7289:0.0:0.2711	.	42;41;42;42	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	42	ENSP00000415136:R42H;ENSP00000301421:R42H	ENSP00000301421:R42H	R	-	2	0	0	KLK15	56022802	56022802	0.011000	0.17503	0.003000	0.11579	0.895000	0.52256	0.694000	0.25512	0.304000	0.22809	0.561000	0.74099	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-11.890410	1	0.170000	NM_017509			15	15		229	229	0		1			0	0	64	0		9.998867e-01	0	0	0	0	0	0	15	229
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	A	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000326003.2	+	3	341	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000326003.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.L100L(2)	urinary_tract(2)	24						c.(298-300)ctC>ctA		kallikrein-related peptidase 3							93.0	76.0	81.0					19																	51361378		2203	4300	6503	SO:0001819	synonymous_variant	354	0	0					g.chr19:51361378C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.300C>A	chr19.hg19:g.51361378C>A		0					KLK3_ENST00000593997.1_Silent_p.L100L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Silent_p.L100L	p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	1	2	3	2.010022	P07288	KLK3_HUMAN		3	341	+		all_neural(266;0.057)	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	1	1	hg19	c.300C>A	CCDS12807.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_145864			45	45		205	201	1		1			0	0	42	0		1	0	0	0	0	0	0	45	205
KLK7	5650	broad.mit.edu	37	19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	122	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGACAGCCTGGCCTGGCTATT	0.592																																						ENST00000391807.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(364-366)gCc>gTc		kallikrein-related peptidase 7							121.0	93.0	103.0					19																	51483600		2203	4300	6503	SO:0001583	missense	5650	0	0					g.chr19:51483600G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.365C>T	chr19.hg19:g.51483600G>A	ENSP00000375683:p.Ala122Val	0					KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V	p.A122V	NM_139277.2	NP_644806.1	1	2	3	2.010022	P49862	KLK7_HUMAN		4	466	-		all_neural(266;0.026)	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	1	1	hg19	c.365C>T	CCDS12812.1	1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.568450	0.28003	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.91686	-2.89;-2.23	4.6	0.361	0.16107	4.6	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254023	0.20322	N	0.094608	T	0.71239	0.3316	N	0.02916	-0.46	0.22656	N	0.99889	B	0.23937	0.094	B	0.16722	0.016	T	0.64162	-0.6472	10	0.02654	T	1	.	3.1037	0.06334	0.3087:0.0:0.4984:0.1929	.	122	P49862	KLK7_HUMAN	V	122;122;9	ENSP00000375683:A122V;ENSP00000337540:A9V	ENSP00000304791:A122V	A	-	2	0	0	KLK7	56175412	56175412	0.001000	0.12720	0.006000	0.13384	0.076000	0.17211	0.085000	0.14912	-0.128000	0.11641	0.448000	0.29417	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_005046			49	47		202	196	1		1	1		0	0	41	0		1	9.999952e-01	0	31	0	48	0	49	202
KLK7	5650	broad.mit.edu	37	19	51485163	51485163	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	KLK7_ENST00000336317.4_Intron|KLK7_ENST00000597707.1_5'UTR|KLK7_ENST00000595820.1_Silent_p.G27G|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	27					epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TAATCTTGTCACCCTGGGCTG	0.597																																						ENST00000391807.1	1.000000	0.360000	1	5.500000e-01	0.800000	0.785765	0.800000	1.000000																										0				19						c.(79-81)ggT>ggC		kallikrein-related peptidase 7							55.0	50.0	52.0					19																	51485163		2203	4300	6503	SO:0001819	synonymous_variant	5650	2	121360	29				g.chr19:51485163A>G	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.81T>C	chr19.hg19:g.51485163A>G		0					KLK7_ENST00000597707.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G	p.G27G	NM_139277.2	NP_644806.1	1	2	3	2.010022	P49862	KLK7_HUMAN		3	182	-		all_neural(266;0.026)	A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	1	1	hg19	c.81T>C	CCDS12812.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-10.975410	1	0.170000	NM_005046			7	7		103	100	0		1	1		0	0	24	0		9.798258e-01	7.994131e-01	0	6	0	40	0	7	103
KLK13	26085	broad.mit.edu	37	19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C	rs537179612	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	107	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)			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)		GGGTGGGGGATAGAGTGGACA	0.582													T|||	3	0.000599042	0.0	0.0	5008	,	,		12024	0.0		0.0	False		,,,				2504	0.0031					ENST00000595793.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(319-321)Atc>Gtc		kallikrein-related peptidase 13							89.0	88.0	88.0					19																	51563271		2203	4300	6503	SO:0001583	missense	26085	29	121412	44				g.chr19:51563271T>C		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.319A>G	chr19.hg19:g.51563271T>C	ENSP00000470555:p.Ile107Val	0					KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron	p.I107V	NM_015596.1	NP_056411.1	1	2	3	2.010022	Q9UKR3	KLK13_HUMAN		3	361	-		all_neural(266;0.026)	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	1	1	hg19	c.319A>G	CCDS12822.1	1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942973	0.02322	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.519	0.17035	3.76	0.519	0.17035	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.285942	0.25006	N	0.033862	T	0.40094	0.1103	L	0.34521	1.04	0.37140	D	0.901665	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.21655	-1.0239	9	0.49607	T	0.09	.	5.6968	0.17861	0.0:0.3757:0.0:0.6243	.	107;107	B5BUM9;Q9UKR3	.;KLK13_HUMAN	V	107	.	ENSP00000156476:I107V	I	-	1	0	0	KLK13	56255083	56255083	0.000000	0.05858	0.741000	0.31004	0.001000	0.01503	-0.831000	0.04405	0.169000	0.19679	-0.280000	0.10049	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_015596			65	65		384	374	1		1	1		0	0	94	0		1	3.860463e-01	0	4	0	5	0	65	384
KLK14	43847	broad.mit.edu	37	19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A	rs541191047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000156499.2	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000391802.1_Missense_Mutation_p.T200M			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.001				GBM(117;2161 2172 2448 22911)	ENST00000156499.2	1.000000	0.290000	5.000000e-01	3.400000e-01	0.410000	0.459008	0.410000	0.400000																										0				11						c.(598-600)aCg>aTg		kallikrein-related peptidase 14							189.0	193.0	192.0					19																	51582124		1988	4175	6163	SO:0001583	missense	43847	2	120952	43				g.chr19:51582124G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.599C>T	chr19.hg19:g.51582124G>A	ENSP00000156499:p.Thr200Met	0					KLK14_ENST00000391802.1_Missense_Mutation_p.T200M	p.T200M			1	2	3	2.010022	Q9P0G3	KLK14_HUMAN		6	817	-		all_neural(266;0.0199)	A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	1	1	hg19	c.599C>T	CCDS12823.2	0	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528327	0.44969	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.91068	-2.78;-2.78	4.49	4.49	0.54785	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95771	0.8624	M	0.90252	3.1	0.37125	D	0.900994	D	0.89917	1.0	D	0.71184	0.972	D	0.98452	1.0592	9	0.87932	D	0	.	14.7352	0.69412	0.0:0.0:1.0:0.0	.	200	Q9P0G3	KLK14_HUMAN	M	200	ENSP00000156499:T200M;ENSP00000375678:T200M	ENSP00000156499:T200M	T	-	2	0	0	KLK14	56273936	56273936	1.000000	0.71417	0.228000	0.23943	0.021000	0.10359	4.476000	0.60216	2.079000	0.62486	0.394000	0.25966	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	0	0	1		2	2	2	0		0	0	296		296	294	1	2.060000	-3.784703	1	0.170000	NM_022046			45	43		1275	1250	0		1	0		0	0	296	0		1	3.307079e-01	0	0	0	34	0	45	1275
SIGLEC7	27036	broad.mit.edu	37	19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	203	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			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)		CTCAGTGCTCACCCTCATCCC	0.657																																						ENST00000317643.6	1.000000	0.630000	1	7.400000e-01	0.880000	0.875401	0.880000	1.000000																										0				29						c.(607-609)Acc>Gcc		sialic acid binding Ig-like lectin 7							62.0	61.0	62.0					19																	51647836		2203	4300	6503	SO:0001583	missense	27036	0	0					g.chr19:51647836A>G	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.607A>G	chr19.hg19:g.51647836A>G	ENSP00000323328:p.Thr203Ala	0					SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.T203A	NM_014385.2	NP_055200.1	1	2	3	2.010022	Q9Y286	SIGL7_HUMAN		2	676	+		all_neural(266;0.0199)	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	1	1	hg19	c.607A>G	CCDS12826.1	1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311986	0.23821	.	.	ENSG00000168995	ENST00000317643	T	0.03635	3.86	2.9	1.73	0.24493	2.9	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208382	0.24542	N	0.037621	T	0.09468	0.0233	M	0.88979	2.995	0.21220	N	0.999752	P	0.43352	0.804	P	0.47134	0.539	T	0.05386	-1.0888	10	0.42905	T	0.14	.	4.7918	0.13252	0.7228:0.0:0.0:0.2772	.	203	Q9Y286	SIGL7_HUMAN	A	203	ENSP00000323328:T203A	ENSP00000323328:T203A	T	+	1	0	0	SIGLEC7	56339648	56339648	0.006000	0.16342	0.444000	0.26895	0.012000	0.07955	0.237000	0.17985	1.360000	0.45960	0.432000	0.28606	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	0	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	NM_016543			40	36		507	495	0		1	0		0	0	112	0		1	4.163075e-01	0	0	0	19	0	40	507
CD33	945	broad.mit.edu	37	19	51728523	51728523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587																																						ENST00000262262.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(85-87)gtG>gtA		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						61.0	60.0	60.0					19																	51728523		2203	4300	6503	SO:0001819	synonymous_variant	945	1	121412	24				g.chr19:51728523G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.87G>A	chr19.hg19:g.51728523G>A		0					CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V	p.V29V	NM_001772.3	NP_001763.3	1	2	3	2.010022	P20138	CD33_HUMAN		2	108	+		all_neural(266;0.0199)	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	1	1	hg19	c.87G>A	CCDS33084.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_001772			78	76		326	322	1		1	0		0	0	92	0		1	6.047734e-01	0	0	0	10	0	78	326
CD33	945	broad.mit.edu	37	19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000262262.4	+	3	498	c.477A>C	c.(475-477)aaA>aaC	p.K159N	CD33_ENST00000436584.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	159	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597																																						ENST00000262262.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(475-477)aaA>aaC		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						83.0	87.0	86.0					19																	51729117		2203	4300	6503	SO:0001583	missense	945	0	0					g.chr19:51729117A>C	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.477A>C	chr19.hg19:g.51729117A>C	ENSP00000262262:p.Lys159Asn	0					CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000436584.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N	p.K159N	NM_001772.3	NP_001763.3	1	2	3	2.010022	P20138	CD33_HUMAN		3	498	+		all_neural(266;0.0199)	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	1	1	hg19	c.477A>C	CCDS33084.1	1	.	.	.	.	.	.	.	.	.	.	.	5.940	0.357520	0.11239	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	2.66	-5.33	0.02713	2.66	-5.33	0.02713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.962470	0.01326	U	0.011118	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26120	0.082;0.142;0.082	B;B;B	0.29663	0.105;0.037;0.065	T	0.19386	-1.0307	10	0.44086	T	0.13	.	5.2146	0.15336	0.2717:0.4967:0.2316:0.0	.	32;159;159	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	N	32;159;32;159	ENSP00000403331:K32N;ENSP00000262262:K159N;ENSP00000410126:K32N;ENSP00000375673:K159N	ENSP00000262262:K159N	K	+	3	2	2	CD33	56420929	56420929	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.755000	0.01814	-1.378000	0.02120	-0.666000	0.03841	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	1		2	2	2	0		0	0	121		121	116	1	2.060000	-20.000000	1	0.170000	NM_001772			126	123		529	510	1		1	0		0	0	121	0		1	9.651597e-01	0	0	0	25	0	126	529
NKG7	4818	broad.mit.edu	37	19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T	rs374965402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000600427.1_Missense_Mutation_p.D26N|NKG7_ENST00000595217.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	26						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612																																						ENST00000221978.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(76-78)Gat>Aat		natural killer cell granule protein 7		C	ASN/ASP	0,4406		0,0,2203	83.0	83.0	83.0		76	-1.0	0.5	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKG7	NM_005601.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	26/166	51875714	1,13005	2203	4300	6503	SO:0001583	missense	4818	2	121412	37				g.chr19:51875714C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.76G>A	chr19.hg19:g.51875714C>T	ENSP00000221978:p.Asp26Asn	0					NKG7_ENST00000595217.1_Missense_Mutation_p.D26N|NKG7_ENST00000600427.1_Missense_Mutation_p.D26N	p.D26N	NM_005601.3	NP_005592.1	1	2	3	2.010022	Q16617	NKG7_HUMAN		1	255	-		all_neural(266;0.0199)		Missense_Mutation	SNP	ENST00000221978.5	1	1	hg19	c.76G>A	CCDS12830.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435883	0.43224	0.0	1.16E-4	ENSG00000105374	ENST00000221978	D	0.89552	-2.53	4.98	-1.04	0.10068	4.98	-1.04	0.10068	.	0.464649	0.18207	N	0.148306	T	0.79246	0.4413	L	0.39397	1.21	0.23681	N	0.997127	B	0.28850	0.225	B	0.25759	0.063	T	0.63637	-0.6592	10	0.20519	T	0.43	0.9973	7.6275	0.28220	0.0:0.4564:0.0:0.5436	.	26	Q16617	NKG7_HUMAN	N	26	ENSP00000221978:D26N	ENSP00000221978:D26N	D	-	1	0	0	NKG7	56567526	56567526	0.001000	0.12720	0.452000	0.26994	0.434000	0.31775	-0.128000	0.10531	-0.229000	0.09854	0.561000	0.74099	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_005601			128	127		418	413	1		1	0		0	0	114	0		1	1	0	0	0	146	0	128	418
LIM2	3982	broad.mit.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	rs371415135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					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)			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)		CCCAAAGCGGCGGCCCAGGAA	0.627																																						ENST00000596399.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(385-387)cGc>cAc		lens intrinsic membrane protein 2, 19kDa							104.0	105.0	105.0					19																	51883833		2203	4300	6503	SO:0001583	missense	3982	1	121412	36				g.chr19:51883833C>T		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.386G>A	chr19.hg19:g.51883833C>T	ENSP00000472090:p.Arg129His	0					LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	p.R129H	NM_001161748.1	NP_001155220.1	1	2	3	2.010022	P55344	LMIP_HUMAN		4	433	-		all_neural(266;0.0529)	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	1	1	hg19	c.386G>A	CCDS59415.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	0	LIM2	56575645	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000	NM_030657			175	168		740	716	1		1			0	0	169	0		1	0	0	0	0	0	0	175	740
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000339313.5	-	7	1224	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V370L(1)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632																																						ENST00000339313.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										2	Substitution - Missense(2)	p.V370L(1)|p.V312L(1)	lung(2)	58						c.(1108-1110)Gta>Ata		sialic acid binding Ig-like lectin 10							41.0	43.0	42.0					19																	51918657		2203	4300	6503	SO:0001583	missense	89790	0	0					g.chr19:51918657C>T	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.1108G>A	chr19.hg19:g.51918657C>T	ENSP00000345243:p.Val370Ile	0					SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I	p.V370I			1	2	3	2.010022	Q96LC7	SIG10_HUMAN		7	1224	-		all_neural(266;0.0199)	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	1	1	hg19	c.1108G>A	CCDS12832.1	1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947344	0.34377	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.64	3.59	0.41128	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.26122	0.0637	L	0.45470	1.425	0.24844	N	0.992441	D;D;D;D;D;D;P;P	0.89917	0.972;0.996;1.0;0.999;1.0;1.0;0.674;0.881	D;D;D;D;D;D;B;P	0.91635	0.946;0.998;0.999;0.988;0.999;0.999;0.291;0.694	T	0.01626	-1.1309	10	0.41790	T	0.15	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370I;ENSP00000396742:V287I;ENSP00000395475:V222I;ENSP00000348646:V370I;ENSP00000408387:V312I;ENSP00000431444:V280I;ENSP00000389132:V312I;ENSP00000414324:V322I;ENSP00000345243:V370I	ENSP00000345243:V370I	V	-	1	0	0	SIGLEC10	56610469	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.660490	1	0.170000	NM_033130			47	47		319	311	1		1	0		0	0	67	0		1	9.999997e-01	0	0	0	154	0	47	319
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			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)		TGGCCTTGCCGATTTCTTCCT	0.597																																						ENST00000321424.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1171-1173)tCg>tTg		sialic acid binding Ig-like lectin 8							102.0	95.0	98.0					19																	51957546		2203	4300	6503	SO:0001583	missense	27181	0	0					g.chr19:51957546G>A	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.1172C>T	chr19.hg19:g.51957546G>A	ENSP00000321077:p.Ser391Leu	0					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L|SIGLEC8_ENST00000597352.1_5'Flank	p.S391L	NM_014442.2	NP_055257.2	1	2	3	2.010022	Q9NYZ4	SIGL8_HUMAN		6	1238	-		all_neural(266;0.0199)	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	1	1	hg19	c.1172C>T	CCDS33086.1	1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	0	SIGLEC8	56649358	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-20.000000	1	0.170000	NM_014442			101	100		499	488	1		1	0		0	0	145	0		1	9.969075e-01	0	0	0	45	0	101	499
SIGLEC8	27181	broad.mit.edu	37	19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	259	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			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)		CCTACCTGTGGCATCTCCTTG	0.562																																						ENST00000321424.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(775-777)gCc>gTc		sialic acid binding Ig-like lectin 8							96.0	91.0	93.0					19																	51960443		2203	4300	6503	SO:0001583	missense	27181	0	0					g.chr19:51960443G>A	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.776C>T	chr19.hg19:g.51960443G>A	ENSP00000321077:p.Ala259Val	0					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	p.A259V	NM_014442.2	NP_055257.2	1	2	3	2.010022	Q9NYZ4	SIGL8_HUMAN		3	842	-		all_neural(266;0.0199)	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	1	1	hg19	c.776C>T	CCDS33086.1	1	.	.	.	.	.	.	.	.	.	.	.	4.032	0.003496	0.07866	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.61859	0.07;1.16	2.01	-3.68	0.04463	2.01	-3.68	0.04463	Immunoglobulin-like (1);	1.464450	0.04674	N	0.411134	T	0.26484	0.0647	N	0.02368	-0.58	0.09310	N	1	B;B	0.18610	0.02;0.029	B;B	0.20577	0.03;0.028	T	0.07849	-1.0751	10	0.23891	T	0.37	.	3.4536	0.07507	0.0:0.3377:0.2129:0.4494	.	166;259	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	V	259;166	ENSP00000321077:A259V;ENSP00000339448:A166V	ENSP00000321077:A259V	A	-	2	0	0	SIGLEC8	56652255	56652255	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.241000	0.08940	-0.772000	0.04602	-1.650000	0.00758	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	0	0	0		15	4	2	1		1	1	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_014442			85	83		417	413	1		1	0		1	0	122	0		1	9.983994e-01	0	0	0	72	0	85	417
SIGLEC8	27181	broad.mit.edu	37	19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	193	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			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)		ACGGAGGCCCCAATCCAGGAG	0.652																																						ENST00000321424.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(577-579)Ggg>Agg		sialic acid binding Ig-like lectin 8							61.0	65.0	63.0					19																	51960871		2203	4300	6503	SO:0001583	missense	27181	1	121412	29				g.chr19:51960871C>T	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.577G>A	chr19.hg19:g.51960871C>T	ENSP00000321077:p.Gly193Arg	0					SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	p.G193R	NM_014442.2	NP_055257.2	1	2	3	2.010022	Q9NYZ4	SIGL8_HUMAN		2	643	-		all_neural(266;0.0199)	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	1	1	hg19	c.577G>A	CCDS33086.1	1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344112	0.41498	.	.	ENSG00000105366	ENST00000321424	T	0.07800	3.16	2.69	1.6	0.23607	2.69	1.6	0.23607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.384458	0.18663	N	0.134666	T	0.17450	0.0419	M	0.86343	2.81	0.09310	N	1	D	0.53151	0.958	P	0.50405	0.64	T	0.10154	-1.0642	10	0.27082	T	0.32	.	6.7857	0.23672	0.2792:0.7208:0.0:0.0	.	193	Q9NYZ4	SIGL8_HUMAN	R	193	ENSP00000321077:G193R	ENSP00000321077:G193R	G	-	1	0	0	SIGLEC8	56652683	56652683	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.125000	0.15749	0.430000	0.26230	0.502000	0.49764	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-3.674286	1	0.170000	NM_014442			113	109		411	402	1		1	0		0	0	109	0		1	9.997259e-01	0	0	0	46	0	113	411
CEACAM18	729767	broad.mit.edu	37	19	51983672	51983672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	46										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCGGACTGTCGTGGCCCTGG	0.552																																						ENST00000396477.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999743	0.990000	1.000000																										0				17						c.(136-138)gtC>gtT		carcinoembryonic antigen-related cell adhesion molecule 18							53.0	51.0	52.0					19																	51983672		1998	4153	6151	SO:0001819	synonymous_variant	729767	5	120910	33				g.chr19:51983672C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.138C>T	chr19.hg19:g.51983672C>T		0					CEACAM18_ENST00000451626.1_Silent_p.V107V	p.V46V	NM_001278392.1	NP_001265321.1	1	2	3	2.010022	A8MTB9	CEA18_HUMAN		2	159	+		all_neural(266;0.0529)	C9JN24	Silent	SNP	ENST00000396477.4	1	1	hg19	c.138C>T		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2	0	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000				18	17		88	88	1		1			0	0	31	0		9.999891e-01	0	0	0	0	0	0	18	88
CEACAM18	729767	broad.mit.edu	37	19	51983707	51983707	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983707A>G	ENST00000396477.4	+	2	194	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	58										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATGTTCAGGAATACAGCTGG	0.567																																						ENST00000396477.4	1.000000	0.150000	7.900000e-01	2.800000e-01	0.470000	0.525808	0.470000	1.000000																										0				17						c.(172-174)gAa>gGa		carcinoembryonic antigen-related cell adhesion molecule 18							60.0	59.0	59.0					19																	51983707		2021	4182	6203	SO:0001583	missense	729767	0	0					g.chr19:51983707A>G			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.173A>G	chr19.hg19:g.51983707A>G	ENSP00000379738:p.Glu58Gly	0					CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	p.E58G	NM_001278392.1	NP_001265321.1	1	2	3	2.010022	A8MTB9	CEA18_HUMAN		2	194	+		all_neural(266;0.0529)	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	0	1	hg19	c.173A>G		0	.	.	.	.	.	.	.	.	.	.	.	0.177	-1.065486	0.01934	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.66815	-0.23	2.79	2.79	0.32731	2.79	2.79	0.32731	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55337	0.1914	N	0.16130	0.375	0.09310	N	1	P	0.47106	0.89	P	0.55713	0.782	T	0.44862	-0.9300	9	0.07482	T	0.82	-6.6496	7.4747	0.27369	1.0:0.0:0.0:0.0	.	119	A8MTB9	CEA18_HUMAN	G	119;58;58	ENSP00000402203:E119G	ENSP00000379738:E58G	E	+	2	0	0	CEACAM18	56675519	56675519	0.029000	0.19370	0.161000	0.22692	0.065000	0.16274	0.378000	0.20569	1.567000	0.49668	0.529000	0.55759	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2	0	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-7.232777	1	0.170000				4	3		111	110	0		1			0	0	31	0		8.875139e-01	0	0	0	0	0	0	4	111
SIGLEC12	89858	broad.mit.edu	37	19	52004877	52004877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACACACAGGCCCTCCTGCA	0.577																																						ENST00000291707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(109-111)ggC>ggT		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							111.0	82.0	92.0					19																	52004877		2203	4300	6503	SO:0001819	synonymous_variant	89858	0	0					g.chr19:52004877G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.111C>T	chr19.hg19:g.52004877G>A		0					SIGLEC12_ENST00000598614.1_5'Flank	p.G37G	NM_053003.2	NP_443729.1	1	2	3	2.010022	Q96PQ1	SIG12_HUMAN		1	166	-		all_neural(266;0.0199)	Q8IYH7	Silent	SNP	ENST00000291707.3	1	1	hg19	c.111C>T	CCDS12833.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_053003			54	50		270	267	1		1	0		0	0	76	0		1	7.663564e-02	0	0	0	3	0	54	270
PTPRS	5802	broad.mit.edu	37	19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000587303.1	-	35	5675	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1859	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGGCCAATGAAGTCGATGAA	0.592																																						ENST00000587303.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				61						c.(5575-5577)tTc>tCc		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)						119.0	104.0	109.0					19																	5208314		2203	4300	6503	SO:0001583	missense	5802	0	0					g.chr19:5208314A>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5576T>C	chr19.hg19:g.5208314A>G	ENSP00000467537:p.Phe1859Ser	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S	p.F1859S			1	2	3	2.010022	Q13332	PTPRS_HUMAN		35	5675	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	1	1	hg19	c.5576T>C	CCDS45930.1	1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021149	0.54576	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	2.89	2.89	0.33648	2.89	2.89	0.33648	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.56963	0.2021	H	0.97186	3.955	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;0.994;1.0;0.997;1.0;0.999	T	0.68364	-0.5428	10	0.87932	D	0	.	10.2806	0.43537	1.0:0.0:0.0:0.0	.	1441;1412;1416;1821;1859;1454	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1454;1860;1859;1859;1850;1839;1821;1441;1416;1412	ENSP00000361489:F1860S;ENSP00000349932:F1859S;ENSP00000262963:F1839S;ENSP00000269907:F1821S;ENSP00000327313:F1412S	ENSP00000262963:F1839S	F	-	2	0	0	PTPRS	5159314	5159314	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.946000	0.92992	1.199000	0.43173	0.235000	0.17854	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000				40	40		226	222	1		1	1		0	0	63	0		1	9.993877e-01	0	3	0	63	0	40	226
SIGLEC6	946	broad.mit.edu	37	19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000425629.3	-	3	804	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	217	Ig-like C2-type 1.				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)			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)		AGGGAACGTCACCTGACAGGT	0.662																																						ENST00000425629.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(649-651)gTg>gGg		sialic acid binding Ig-like lectin 6							62.0	69.0	66.0					19																	52033991		2202	4300	6502	SO:0001583	missense	946	0	0					g.chr19:52033991A>C	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.650T>G	chr19.hg19:g.52033991A>C	ENSP00000401502:p.Val217Gly	0					SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G	p.V217G	NM_001245.5	NP_001236.4	1	2	3	2.010022	O43699	SIGL6_HUMAN		3	804	-		all_neural(266;0.0199)	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	1	1	hg19	c.650T>G	CCDS12834.3	1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711806	0.30322	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	3.6	2.57	0.30868	3.6	2.57	0.30868	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33691	N	0.004643	T	0.59918	0.2229	H	0.94462	3.54	0.46609	D	0.999123	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.995;0.998;0.991;0.991;0.995;0.995	T	0.60414	-0.7268	10	0.87932	D	0	.	5.5093	0.16872	0.8679:0.0:0.1321:0.0	.	217;181;206;217;217;217	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	G	206;217;217;217;181;217	ENSP00000401502:V217G;ENSP00000353071:V217G;ENSP00000410679:V181G;ENSP00000345907:V217G	ENSP00000345907:V217G	V	-	2	0	0	SIGLEC6	56725803	56725803	0.012000	0.17670	0.508000	0.27688	0.115000	0.19883	0.974000	0.29436	0.569000	0.29329	0.460000	0.39030	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_001245			100	98		413	407	1		1	0		0	0	84	0		1	4.841622e-01	0	0	0	8	0	100	413
PTPRS	5802	broad.mit.edu	37	19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000587303.1	-	31	5026	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1643	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGCAGGGCCTCGTGGATGAAG	0.607																																						ENST00000587303.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(4927-4929)Gag>Aag		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)						83.0	78.0	79.0					19																	5212104		2203	4300	6503	SO:0001583	missense	5802	3	121410	34				g.chr19:5212104C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4927G>A	chr19.hg19:g.5212104C>T	ENSP00000467537:p.Glu1643Lys	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K	p.E1643K			1	2	3	2.010022	Q13332	PTPRS_HUMAN		31	5026	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	1	1	hg19	c.4927G>A	CCDS45930.1	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517167	0.64634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	2.47	2.47	0.30058	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.177742	0.35772	U	0.002986	T	0.28067	0.0692	N	0.12746	0.255	0.40297	D	0.978561	P;B;P;D;P;P	0.53312	0.703;0.154;0.832;0.959;0.894;0.878	P;B;P;P;P;P	0.53861	0.495;0.1;0.495;0.615;0.736;0.501	T	0.31392	-0.9945	10	0.72032	D	0.01	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1225;1196;1200;1605;1643;1238	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1238;1644;1643;1643;1634;1623;1605;1225;1200;1196	ENSP00000361489:E1644K;ENSP00000349932:E1643K;ENSP00000262963:E1623K;ENSP00000269907:E1605K;ENSP00000327313:E1196K	ENSP00000262963:E1623K	E	-	1	0	0	PTPRS	5163104	5163104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	1.399000	0.46721	0.478000	0.44815	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.541402	1	0.170000				73	72		292	290	1		1	0		0	0	60	0		1	9.950610e-01	0	0	0	35	0	73	292
ZNF175	7728	broad.mit.edu	37	19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000262259.2	+	5	948	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	197					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)			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)		CAACCTCAGAAATGTTGCTTA	0.418																																						ENST00000262259.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(589-591)aAa>aGa		zinc finger protein 175							89.0	86.0	87.0					19																	52090174		2203	4299	6502	SO:0001583	missense	7728	0	0					g.chr19:52090174A>G	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.590A>G	chr19.hg19:g.52090174A>G	ENSP00000262259:p.Lys197Arg	0					ZNF175_ENST00000436511.2_Intron	p.K197R	NM_007147.2	NP_009078.1	1	2	3	2.010022	Q9Y473	ZN175_HUMAN		5	948	+		all_neural(266;0.0299)	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	1	1	hg19	c.590A>G	CCDS12837.1	1	.	.	.	.	.	.	.	.	.	.	A	8.124	0.781600	0.16120	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	-1.37	0.09056	2.2	-1.37	0.09056	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.40440	-0.9563	9	0.46703	T	0.11	.	3.398	0.07313	0.2846:0.0:0.1349:0.5805	.	197	Q9Y473	ZN175_HUMAN	R	197	ENSP00000262259:K197R	ENSP00000262259:K197R	K	+	2	0	0	ZNF175	56781986	56781986	0.000000	0.05858	0.001000	0.08648	0.728000	0.41692	-0.003000	0.12901	-0.459000	0.07013	0.533000	0.62120	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_007147			84	84		405	399	1		1	1		0	0	77	0		1	9.090058e-01	0	6	0	16	0	84	405
SIGLEC5	8778	broad.mit.edu	37	19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000534261.2	-	6	1394	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	332					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		ACACTCACAGTAAACTGAGAG	0.562																																						ENST00000534261.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(994-996)tAc>tGc		sialic acid binding Ig-like lectin 5							23.0	26.0	25.0					19																	52131089		2194	4297	6491	SO:0001583	missense	8778	0	0					g.chr19:52131089T>C	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.995A>G	chr19.hg19:g.52131089T>C	ENSP00000473238:p.Tyr332Cys	0					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C	p.Y332C			1	2	3	2.010022	O15389	SIGL5_HUMAN		6	1394	-		all_neural(266;0.0726)		Missense_Mutation	SNP	ENST00000534261.2	1	1	hg19	c.995A>G	CCDS33088.1	1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491118	0.12702	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.63	-6.49	0.01890	3.63	-6.49	0.01890	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.34502	-0.9826	9	0.39692	T	0.17	.	5.1519	0.15015	0.5989:0.1984:0.0:0.2026	.	332	O15389	SIGL5_HUMAN	C	332	ENSP00000222107:Y332C;ENSP00000415200:Y332C	ENSP00000222107:Y332C	Y	-	2	0	0	SIGLEC5	56822901	56822901	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.955000	0.01523	-1.795000	0.01255	-0.421000	0.06004	TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_003830			52	51		191	186	1		1	0		0	0	50	0		1	4.660919e-01	0	0	0	7	0	52	191
SIGLEC14	100049587	broad.mit.edu	37	19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000360844.6	-	2	451	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	137					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTCACCTCCAAGTTCAGCTT	0.552																																						ENST00000360844.6	1.000000	0.350000	6.600000e-01	4.300000e-01	0.520000	0.562925	0.520000	0.500000																										0				29						c.(409-411)tTg>tCg		sialic acid binding Ig-like lectin 14							77.0	96.0	90.0					19																	52149521		1832	4002	5834	SO:0001583	missense	100049587	0	0					g.chr19:52149521A>G	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.410T>C	chr19.hg19:g.52149521A>G	ENSP00000354090:p.Leu137Ser	0					SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	p.L137S	NM_001098612.1	NP_001092082.1	1	2	3	2.010022	Q08ET2	SIG14_HUMAN		2	451	-		all_neural(266;0.0299)	Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	1	1	hg19	c.410T>C	CCDS42604.1	0	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352761	0.41700	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.68479	-0.33;-0.33	3.09	3.09	0.35607	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.234553	0.21568	N	0.072458	T	0.80954	0.4723	M	0.86953	2.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	7.8471	0.29431	1.0:0.0:0.0:0.0	.	137	Q08ET2	SIG14_HUMAN	S	137	ENSP00000222107:L137S;ENSP00000354090:L137S	ENSP00000354090:L137S	L	-	2	0	0	SIGLEC5;SIGLEC14	56841333	56841333	0.000000	0.05858	0.136000	0.22124	0.031000	0.12232	0.278000	0.18753	1.429000	0.47314	0.416000	0.27883	TTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	0	0	0		2	2	2	0		0	0	140		140	254	1	2.060000	-20.000000	1	0.170000	NM_001098612			29	28		643	606	0		1	0		0	0	140	0		1	2.699871e-02	0	0	0	6	0	29	643
HAS1	3036	broad.mit.edu	37	19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000222115.1	-	5	1716	c.1682T>C	c.(1681-1683)gTg>gCg	p.V561A	HAS1_ENST00000540069.2_Missense_Mutation_p.V560A|HAS1_ENST00000601714.1_Missense_Mutation_p.V568A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	561					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)			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)		CCGCACGCCCACCCAGTACAG	0.721																																					NSCLC(132;636 2450 45807 47979)	ENST00000222115.1	1.000000	0.490000	1	6.900000e-01	0.960000	0.879517	0.960000	1.000000																										0				40						c.(1681-1683)gTg>gCg		hyaluronan synthase 1							12.0	14.0	13.0					19																	52216735		2168	4264	6432	SO:0001583	missense	3036	0	0					g.chr19:52216735A>G	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.1682T>C	chr19.hg19:g.52216735A>G	ENSP00000222115:p.Val561Ala	0					HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000540069.2_Missense_Mutation_p.V560A	p.V561A	NM_001523.2	NP_001514.2	1	2	3	2.010022	Q92839	HYAS1_HUMAN		5	1716	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	0	1	hg19	c.1682T>C	CCDS12838.1	1	.	.	.	.	.	.	.	.	.	.	a	8.664	0.901231	0.17760	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.31769	1.49;1.48	3.25	2.1	0.27182	3.25	2.1	0.27182	.	0.402692	0.21754	U	0.069627	T	0.16685	0.0401	N	0.21282	0.65	0.24831	N	0.992526	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-16.5581	7.6722	0.28465	0.7877:0.2123:0.0:0.0	.	560;561;560	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	A	560;561	ENSP00000445021:V560A;ENSP00000222115:V561A	ENSP00000222115:V561A	V	-	2	0	0	HAS1	56908547	56908547	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.442000	0.66575	1.484000	0.48361	0.147000	0.16070	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-15.506200	1	0.170000	NM_001523			10	10		119	118	0		1	0		0	0	17	0		9.971383e-01	6.254775e-02	0	1	0	4	0	10	119
PTPRS	5802	broad.mit.edu	37	19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A	rs370623380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000587303.1	-	17	3080	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	994	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CAGCGTGAGCGCGTTCTCCGC	0.731													g|||	2	0.000399361	0.0015	0.0	5008	,	,		8124	0.0		0.0	False		,,,				2504	0.0					ENST00000587303.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2980-2982)gCg>gTg		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)	A	VAL/ALA,,VAL/ALA,	2,4200		0,2,2099	12.0	15.0	14.0		2981,,2915,	-0.8	0.8	19		14	0,8130		0,0,4065	no	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	0,2,6164	AA,AG,GG		0.0,0.0476,0.0162	benign,,benign,	994/1949,,972/1911,	5222822	2,12330	2101	4065	6166	SO:0001583	missense	5802	14	116912	40				g.chr19:5222822G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2981C>T	chr19.hg19:g.5222822G>A	ENSP00000467537:p.Ala994Val	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V	p.A994V			1	2	3	2.010022	Q13332	PTPRS_HUMAN		17	3080	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	1	1	hg19	c.2981C>T	CCDS45930.1	1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203235	0.09704	4.76E-4	0.0	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.33	-0.79	0.10932	4.33	-0.79	0.10932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.405543	0.21402	N	0.075123	T	0.37265	0.0997	L	0.39020	1.185	0.19575	N	0.999969	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.21143	-1.0254	10	0.29301	T	0.29	.	10.5921	0.45316	0.2704:0.0:0.7296:0.0	.	972;994	Q13332-6;Q13332	.;PTPRS_HUMAN	V	995;994;994;985;990;972	ENSP00000361489:A995V;ENSP00000349932:A994V;ENSP00000262963:A990V;ENSP00000269907:A972V	ENSP00000262963:A990V	A	-	2	0	0	PTPRS	5173822	5173822	0.450000	0.25697	0.820000	0.32676	0.232000	0.25224	0.394000	0.20834	-0.270000	0.09285	-0.993000	0.02533	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				45	45		198	197	0		1	0		0	0	34	0		1	3.587191e-02	0	1	0	1	0	45	198
HAS1	3036	broad.mit.edu	37	19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000222115.1	-	5	1181	c.1147T>C	c.(1147-1149)Tac>Cac	p.Y383H	HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000540069.2_Missense_Mutation_p.Y382H|HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	383					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)			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)		TCACGGAAGTACGACTTGGAC	0.652																																					NSCLC(132;636 2450 45807 47979)	ENST00000222115.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1147-1149)Tac>Cac		hyaluronan synthase 1							53.0	34.0	41.0					19																	52217270		2200	4299	6499	SO:0001583	missense	3036	0	0					g.chr19:52217270A>G	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.1147T>C	chr19.hg19:g.52217270A>G	ENSP00000222115:p.Tyr383His	0					HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000540069.2_Missense_Mutation_p.Y382H	p.Y383H	NM_001523.2	NP_001514.2	1	2	3	2.010022	Q92839	HYAS1_HUMAN		5	1181	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	1	1	hg19	c.1147T>C	CCDS12838.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.36|15.36	2.811727|2.811727	0.50527|0.50527	.|.	.|.	ENSG00000105509|ENSG00000105509	ENST00000376738|ENST00000540069;ENST00000222115	.|T;T	.|0.59502	.|0.26;0.26	3.22|3.22	3.22|3.22	0.36961|0.36961	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.56968	.|0.973;0.978;0.978	.|D;P;P	.|0.63877	.|0.919;0.896;0.896	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.87932|0.87932	D|D	0|0	-29.6232|-29.6232	9.7917|9.7917	0.40710|0.40710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;383;382	.|G3V1S7;Q92839;Q8IYH3	.|.;HAS1_HUMAN;.	A|H	212|382;383	.|ENSP00000445021:Y382H;ENSP00000222115:Y383H	ENSP00000365928:V212A|ENSP00000222115:Y383H	V|Y	-|-	2|1	0|0	0|0	HAS1|HAS1	56909082|56909082	56909082|56909082	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.211000|0.211000	0.24417|0.24417	9.026000|9.026000	0.93700|0.93700	1.480000|1.480000	0.48289|0.48289	0.147000|0.147000	0.16070|0.16070	GTA|TAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_001523			32	32		119	116	1		1	0		0	0	23	0		1	9.789974e-01	0	0	0	26	0	32	119
FPR1	2357	broad.mit.edu	37	19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	80					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512																																						ENST00000595042.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(238-240)ttC>ttA		formyl peptide receptor 1	Nedocromil(DB00716)						138.0	107.0	118.0					19																	52250008		2203	4300	6503	SO:0001583	missense	2357	0	0					g.chr19:52250008G>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.240C>A	chr19.hg19:g.52250008G>T	ENSP00000471493:p.Phe80Leu	0					FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	p.F80L	NM_001193306.1	NP_001180235.1	1	2	3	2.010022	P21462	FPR1_HUMAN		3	381	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	1	1	hg19	c.240C>A	CCDS12839.1	1	.	.	.	.	.	.	.	.	.	.	.	1.356	-0.590198	0.03799	.	.	ENSG00000171051	ENST00000304748	T	0.37235	1.21	3.72	-1.65	0.08291	3.72	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.157463	0.41500	D	0.000871	T	0.30978	0.0782	L	0.53617	1.68	0.09310	N	0.999998	B	0.23806	0.091	B	0.38803	0.282	T	0.42616	-0.9441	10	0.08179	T	0.78	.	8.2744	0.31864	0.3968:0.0:0.6032:0.0	.	80	P21462	FPR1_HUMAN	L	80	ENSP00000302707:F80L	ENSP00000302707:F80L	F	-	3	2	2	FPR1	56941820	56941820	0.109000	0.22037	0.001000	0.08648	0.002000	0.02628	0.430000	0.21428	-0.301000	0.08882	-0.251000	0.11542	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_002029			66	65		301	298	1		1	0		0	0	86	0		1	9.995128e-01	0	1	0	53	0	66	301
FPR3	2359	broad.mit.edu	37	19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	123					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)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478																																						ENST00000339223.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.990085	0.990000	1.000000																										0				35						c.(367-369)cGc>cAc		formyl peptide receptor 3							92.0	77.0	82.0					19																	52327369		2203	4300	6503	SO:0001583	missense	2359	4	121410	37				g.chr19:52327369G>A		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.368G>A	chr19.hg19:g.52327369G>A	ENSP00000341821:p.Arg123His	0					FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	p.R123H	NM_002030.3	NP_002021.3	1	2	3	2.010022	P25089	FPR3_HUMAN		2	547	+				Missense_Mutation	SNP	ENST00000339223.4	1	1	hg19	c.368G>A	CCDS12841.1	1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850699	0.32699	.	.	ENSG00000187474	ENST00000339223	D	0.97161	-4.27	2.34	2.34	0.29019	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97297	0.9116	M	0.91406	3.205	0.32098	N	0.590994	B	0.30605	0.287	B	0.40228	0.323	D	0.99869	1.1094	10	0.56958	D	0.05	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	123	P25089	FPR3_HUMAN	H	123	ENSP00000341821:R123H	ENSP00000341821:R123H	R	+	2	0	0	FPR3	57019181	57019181	1.000000	0.71417	0.967000	0.41034	0.071000	0.16799	4.369000	0.59511	1.323000	0.45263	0.467000	0.42956	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.075755	1	0.170000	NM_002030			41	40		373	364	1		1	0		0	0	77	0		1	9.999999e-01	0	0	0	221	0	41	373
ZNF577	84765	broad.mit.edu	37	19	52375983	52375983	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000301399.5	-	7	1625	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Silent_p.S361S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)			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)		GCGGGGTTCCTGAGGAAGGCA	0.433																																						ENST00000301399.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1258-1260)tcA>tcT		zinc finger protein 577							61.0	61.0	61.0					19																	52375983		2203	4300	6503	SO:0001819	synonymous_variant	84765	0	0					g.chr19:52375983T>A	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.1260A>T	chr19.hg19:g.52375983T>A		0					ZNF577_ENST00000420592.1_Silent_p.S361S|ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	p.S420S	NM_032679.2	NP_116068.2	1	2	3	2.010022	Q9BSK1	ZN577_HUMAN		7	1625	-		all_neural(266;0.0602)	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	1	1	hg19	c.1260A>T	CCDS12842.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_032679			62	61		331	324	1		1	0		0	0	97	0		1	1.818691e-01	0	1	0	4	0	62	331
ZNF577	84765	broad.mit.edu	37	19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000301399.5	-	7	1122	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.R194W	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)			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)		CGGCACTTCCGGCTGAAGGCT	0.498																																						ENST00000301399.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(757-759)Cgg>Tgg		zinc finger protein 577							66.0	61.0	63.0					19																	52376486		2203	4300	6503	SO:0001583	missense	84765	2	121412	34				g.chr19:52376486G>A	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.757C>T	chr19.hg19:g.52376486G>A	ENSP00000301399:p.Arg253Trp	0					ZNF577_ENST00000420592.1_Missense_Mutation_p.R194W|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	p.R253W	NM_032679.2	NP_116068.2	1	2	3	2.010022	Q9BSK1	ZN577_HUMAN		7	1122	-		all_neural(266;0.0602)	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	1	1	hg19	c.757C>T	CCDS12842.2	1	.	.	.	.	.	.	.	.	.	.	.	1.638	-0.517341	0.04171	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.1	-3.89	0.04193	3.1	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	M	0.67569	2.06	0.09310	N	1	B;P	0.34837	0.097;0.472	B;B	0.18263	0.007;0.021	T	0.29971	-0.9994	9	0.32370	T	0.25	.	0.3231	0.00306	0.2893:0.1341:0.2085:0.3681	.	253;194	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	253;194;194;253	ENSP00000301399:R253W;ENSP00000413476:R194W;ENSP00000389652:R194W;ENSP00000404509:R253W	ENSP00000301399:R253W	R	-	1	2	2	ZNF577	57068298	57068298	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.151000	0.00582	-0.835000	0.04234	-0.140000	0.14226	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_032679			50	50		180	180	1		1	1		0	0	45	0		1	4.727844e-01	0	2	0	5	0	50	180
ZNF649	65251	broad.mit.edu	37	19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|ZNF577_ENST00000485702.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	393					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)			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)		AGTGAATTTTCTGATGTCTAA	0.443																																						ENST00000354957.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1177-1179)caG>caT		zinc finger protein 649							116.0	117.0	117.0					19																	52394210		2203	4300	6503	SO:0001583	missense	65251	0	0					g.chr19:52394210C>A	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.1179G>T	chr19.hg19:g.52394210C>A	ENSP00000347043:p.Gln393His	0					ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank	p.Q393H	NM_023074.3	NP_075562.2	1	2	3	2.010022	Q9BS31	ZN649_HUMAN		5	1463	-		all_neural(266;0.0602)	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	1	1	hg19	c.1179G>T	CCDS12843.1	1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101881	0.20632	.	.	ENSG00000198093	ENST00000354957	T	0.18502	2.21	2.63	1.58	0.23477	2.63	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.48642	1.525	0.22017	N	0.99942	B	0.12013	0.005	B	0.10450	0.005	T	0.31613	-0.9937	9	0.51188	T	0.08	.	2.3609	0.04307	0.2421:0.4756:0.0:0.2823	.	393	Q9BS31	ZN649_HUMAN	H	393	ENSP00000347043:Q393H	ENSP00000347043:Q393H	Q	-	3	2	2	ZNF649	57086022	57086022	0.000000	0.05858	0.850000	0.33497	0.186000	0.23388	-0.279000	0.08479	0.318000	0.23185	0.404000	0.27445	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	1	0	1		18	2	2	0		0	1	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_023074			138	134		588	578	1		1	1		0	0	136	0		1	9.272544e-01	0	2	0	19	0	138	588
PTPRS	5802	broad.mit.edu	37	19	5244271	5244271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244271G>A	ENST00000587303.1	-	10	1310	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A405V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	404	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGAGTTGACGGCCGACACCCA	0.667																																						ENST00000587303.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997466	0.990000	1.000000																										0				61						c.(1210-1212)gCc>gTc		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)						56.0	49.0	52.0					19																	5244271		2203	4300	6503	SO:0001583	missense	5802	0	0					g.chr19:5244271G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1211C>T	chr19.hg19:g.5244271G>A	ENSP00000467537:p.Ala404Val	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A405V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V	p.A404V			1	2	3	2.010022	Q13332	PTPRS_HUMAN		10	1310	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	0	1	hg19	c.1211C>T	CCDS45930.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573156	0.65765	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	3.93	2.89	0.33648	3.93	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000004	D	0.85314	0.5668	H	0.95679	3.705	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.999;0.994;0.999;1.0;0.996	D;D;D;D;D;D	0.97110	0.99;0.983;0.95;0.969;1.0;0.935	D	0.87772	0.2606	10	0.87932	D	0	.	11.3321	0.49482	0.0894:0.0:0.9106:0.0	.	404;391;395;391;404;417	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	417;405;404;404;404;400;391;404;395;391	ENSP00000361489:A405V;ENSP00000349932:A404V;ENSP00000262963:A400V;ENSP00000269907:A391V;ENSP00000327313:A391V	ENSP00000262963:A400V	A	-	2	0	0	PTPRS	5195271	5195271	1.000000	0.71417	0.274000	0.24659	0.419000	0.31324	9.517000	0.98020	0.888000	0.36160	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0	0	1		22	2	2	1		1	1	46		46	45	1	2.060000	-20.000000	1	0.170000				38	37		304	298	0		1	0		1	0	46	0		9.866191e-01	1.849438e-01	0	1	0	6	0	38	304
PTPRS	5802	broad.mit.edu	37	19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000587303.1	-	10	1156	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	353	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGCCCGAGTCCCACGTGATG	0.552																																						ENST00000587303.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1057-1059)Gac>Aac		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)						126.0	116.0	119.0					19																	5244425		2203	4300	6503	SO:0001583	missense	5802	0	0					g.chr19:5244425C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1057G>A	chr19.hg19:g.5244425C>T	ENSP00000467537:p.Asp353Asn	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N	p.D353N			1	2	3	2.010022	Q13332	PTPRS_HUMAN		10	1156	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	1	1	hg19	c.1057G>A	CCDS45930.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887699	0.91814	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.87	3.87	0.44632	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.67692	0.2920	L	0.54323	1.7	0.32005	N	0.602871	D;P;D;D;D;D	0.89917	0.991;0.865;0.981;0.999;1.0;0.959	P;B;P;D;D;P	0.91635	0.763;0.425;0.763;0.973;0.999;0.721	T	0.74665	-0.3589	10	0.62326	D	0.03	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	353;340;344;340;353;366	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	366;354;353;353;353;349;340;353;344;340	ENSP00000361489:D354N;ENSP00000349932:D353N;ENSP00000262963:D349N;ENSP00000269907:D340N;ENSP00000327313:D340N	ENSP00000262963:D349N	D	-	1	0	0	PTPRS	5195425	5195425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				65	63		274	267	1		1	0		0	0	62	0		1	9.155048e-01	0	0	0	20	0	65	274
ZNF649	65251	broad.mit.edu	37	19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A	rs373638440		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198					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)			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)		TGTATGAATTCTCTTATGCTC	0.458																																						ENST00000354957.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(592-594)aGa>aTa		zinc finger protein 649		C	ILE/ARG	0,4406		0,0,2203	146.0	139.0	141.0		593	-5.1	0.0	19		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF649	NM_023074.3	97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	198/506	52394796	1,13005	2203	4300	6503	SO:0001583	missense	65251	4	121412	37				g.chr19:52394796C>A	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.593G>T	chr19.hg19:g.52394796C>A	ENSP00000347043:p.Arg198Ile	0					ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	p.R198I	NM_023074.3	NP_075562.2	1	2	3	2.010022	Q9BS31	ZN649_HUMAN		5	877	-		all_neural(266;0.0602)	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	1	1	hg19	c.593G>T	CCDS12843.1	1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836738	0.16891	0.0	1.16E-4	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.79	-5.05	0.02955	2.79	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	M	0.80422	2.495	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.47573	-0.9107	9	0.72032	D	0.01	.	0.4485	0.00497	0.267:0.3071:0.1322:0.2937	.	198	Q9BS31	ZN649_HUMAN	I	198	ENSP00000347043:R198I	ENSP00000347043:R198I	R	-	2	0	0	ZNF649	57086608	57086608	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	-0.963000	0.03837	-0.788000	0.04504	0.404000	0.27445	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-20.000000	1	0.170000	NM_023074			133	130		607	599	1		1	0		0	0	160	0		1	8.093502e-01	0	0	0	16	0	133	607
ZNF613	79898	broad.mit.edu	37	19	52447542	52447542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52447542C>T	ENST00000293471.6	+	6	1085	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	ZNF613_ENST00000391794.4_Silent_p.L100L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGGGAAAATACTGAAATCAAA	0.343																																						ENST00000293471.6	1.000000	0.180000	5.700000e-01	2.700000e-01	0.380000	0.442294	0.380000	0.360000																										0				19						c.(406-408)Ctg>Ttg		zinc finger protein 613							68.0	67.0	67.0					19																	52447542		2203	4300	6503	SO:0001819	synonymous_variant	79898	0	0					g.chr19:52447542C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.406C>T	chr19.hg19:g.52447542C>T		0					ZNF613_ENST00000391794.4_Silent_p.L100L	p.L136L	NM_001031721.3	NP_001026891.2	1	2	3	2.010022	Q6PF04	ZN613_HUMAN		6	1085	+		all_neural(266;0.117)	Q96SS9	Silent	SNP	ENST00000293471.6	0	1	hg19	c.406C>T	CCDS33089.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-9.938825	1	0.170000	NM_024840			9	9		286	283	0		1	0		0	0	60	0		9.941425e-01	4.522257e-02	0	0	0	10	0	9	286
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																						ENST00000293471.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				19						c.(1060-1062)cGc>cAc		zinc finger protein 613							97.0	97.0	97.0					19																	52448197		2203	4300	6503	SO:0001583	missense	79898	2	121412	35				g.chr19:52448197G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	chr19.hg19:g.52448197G>A	ENSP00000293471:p.Arg354His	0					ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	p.R354H	NM_001031721.3	NP_001026891.2	1	2	3	2.010022	Q6PF04	ZN613_HUMAN		6	1740	+		all_neural(266;0.117)	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	1	1	hg19	c.1061G>A	CCDS33089.1	1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	0	ZNF613	57140009	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.017768	1	0.170000	NM_024840			59	59		414	402	1		1	1		0	0	98	0		1	5.783334e-01	0	3	0	12	0	59	414
ZNF613	79898	broad.mit.edu	37	19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCATTAACCACCAGAGAATT	0.418																																						ENST00000293471.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1420-1422)cAc>cGc		zinc finger protein 613							77.0	71.0	73.0					19																	52448557		2203	4300	6503	SO:0001583	missense	79898	0	0					g.chr19:52448557A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1421A>G	chr19.hg19:g.52448557A>G	ENSP00000293471:p.His474Arg	0					ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R|ZNF613_ENST00000601794.1_3'UTR	p.H474R	NM_001031721.3	NP_001026891.2	1	2	3	2.010022	Q6PF04	ZN613_HUMAN		6	2100	+		all_neural(266;0.117)	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	1	1	hg19	c.1421A>G	CCDS33089.1	1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523677	0.64747	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.86865	-2.18;-2.18	3.36	3.36	0.38483	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002058	D	0.94542	0.8242	H	0.94964	3.605	0.35510	D	0.800563	D	0.89917	1.0	D	0.91635	0.999	D	0.97054	0.9766	10	0.87932	D	0	.	11.2125	0.48806	1.0:0.0:0.0:0.0	.	474	Q6PF04	ZN613_HUMAN	R	474;438;148	ENSP00000293471:H474R;ENSP00000375671:H438R	ENSP00000293471:H474R	H	+	2	0	0	ZNF613	57140369	57140369	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.074000	0.64401	1.543000	0.49345	0.533000	0.62120	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_024840			61	61		282	274	1		1	1		0	0	71	0		1	8.013815e-01	0	6	0	10	0	61	282
ZNF350	59348	broad.mit.edu	37	19	52468200	52468200	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	502					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)			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)		CCTGTGCAAATCCTCTGTTAT	0.453																																						ENST00000243644.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1504-1506)ggA>ggG		zinc finger protein 350							109.0	93.0	98.0					19																	52468200		2203	4300	6503	SO:0001819	synonymous_variant	59348	0	0					g.chr19:52468200T>C	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.1506A>G	chr19.hg19:g.52468200T>C		0					HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank	p.G502G	NM_021632.3	NP_067645.3	1	2	3	2.010022	Q9GZX5	ZN350_HUMAN		5	1733	-		all_neural(266;0.0505)	Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	1	1	hg19	c.1506A>G	CCDS12845.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_021632			67	66		265	259	1		1	1		0	0	73	0		1	9.650746e-01	0	3	0	21	0	67	265
ZNF615	284370	broad.mit.edu	37	19	52496865	52496865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	ENST00000602063.1	-	6	1813	c.1464T>G	c.(1462-1464)gaT>gaG	p.D488E	ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|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)		CTTTTCCACAATCATTGCATA	0.438																																						ENST00000602063.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1462-1464)gaT>gaG		zinc finger protein 615							91.0	78.0	82.0					19																	52496865		2203	4300	6503	SO:0001583	missense	284370	0	0					g.chr19:52496865A>C	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.1464T>G	chr19.hg19:g.52496865A>C	ENSP00000473089:p.Asp488Glu	0					ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E	p.D488E			1	2	3	2.010022	Q8N8J6	ZN615_HUMAN		6	1813	-		all_neural(266;0.117)	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	1	0	hg19	c.1464T>G	CCDS12846.1	1	.	.	.	.	.	.	.	.	.	.	A	1.214	-0.628841	0.03610	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35605	1.3;1.3	2.86	-4.11	0.03928	2.86	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.02345	-0.59	0.09310	N	0.999998	B;B;B;B	0.11235	0.004;0.003;0.003;0.004	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.26087	-1.0113	9	0.02654	T	1	.	0.3509	0.00349	0.228:0.2366:0.2801:0.2553	.	493;495;499;488	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	488;498;493;498	ENSP00000365906:D488E;ENSP00000375672:D493E	ENSP00000347019:D498E	D	-	3	2	2	ZNF615	57188677	57188677	0.000000	0.05858	0.152000	0.22495	0.878000	0.50629	-9.482000	0.00011	-1.000000	0.03438	0.402000	0.26972	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-4.205049	1	0.170000	NM_198480			65	62		207	205	1		1	0		0	0	53	0		1	9.572355e-01	0	1	0	18	0	65	207
ZNF615	284370	broad.mit.edu	37	19	52496964	52496964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000594083.1_Silent_p.P466P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)			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)		TGCATACATAGGGTTTCTCTC	0.428																																						ENST00000602063.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1363-1365)ccC>ccT		zinc finger protein 615							98.0	81.0	87.0					19																	52496964		2203	4300	6503	SO:0001819	synonymous_variant	284370	0	0					g.chr19:52496964G>A	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.1365C>T	chr19.hg19:g.52496964G>A		0					ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000594083.1_Silent_p.P466P|ZNF615_ENST00000598071.1_Silent_p.P466P	p.P455P			1	2	3	2.010022	Q8N8J6	ZN615_HUMAN		6	1714	-		all_neural(266;0.117)	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	1	1	hg19	c.1365C>T	CCDS12846.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-3.043619	1	0.170000	NM_198480			52	52		226	220	1		1	1		0	0	46	0		1	8.730463e-01	0	6	0	12	0	52	226
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)			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)		TGTGTGATAAGACTGTTCTTC	0.398																																						ENST00000602063.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1159-1161)Ctt>Att		zinc finger protein 615							96.0	90.0	92.0					19																	52497170		2203	4300	6503	SO:0001583	missense	284370	0	0					g.chr19:52497170G>T	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.1159C>A	chr19.hg19:g.52497170G>T	ENSP00000473089:p.Leu387Ile	0					ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I	p.L387I			1	2	3	2.010022	Q8N8J6	ZN615_HUMAN		6	1508	-		all_neural(266;0.117)	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	1	1	hg19	c.1159C>A	CCDS12846.1	1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004858	0.54254	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.53857	0.6;0.6	3.26	3.26	0.37387	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.88450	2.955	0.29985	N	0.817342	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74390	-0.3681	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	387;397;392;397	ENSP00000365906:L387I;ENSP00000375672:L392I	ENSP00000347019:L397I	L	-	1	0	0	ZNF615	57188982	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_198480			83	83		340	332	1		1	0		0	0	80	0		1	6.674807e-01	0	0	0	11	0	83	340
ZNF615	284370	broad.mit.edu	37	19	52497300	52497300	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000594083.1_Silent_p.P354P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)			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)		TACATATATAAGGTTTTTCTC	0.403																																						ENST00000602063.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1027-1029)ccT>ccG		zinc finger protein 615							82.0	88.0	86.0					19																	52497300		2203	4299	6502	SO:0001819	synonymous_variant	284370	0	0					g.chr19:52497300A>C	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.1029T>G	chr19.hg19:g.52497300A>C		0					ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000594083.1_Silent_p.P354P|ZNF615_ENST00000598071.1_Silent_p.P354P	p.P343P			1	2	3	2.010022	Q8N8J6	ZN615_HUMAN		6	1378	-		all_neural(266;0.117)	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	1	0	hg19	c.1029T>G	CCDS12846.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_198480			108	108		459	447	1		1	1		0	0	111	0		1	8.809364e-01	0	2	0	16	0	108	459
ZNF614	80110	broad.mit.edu	37	19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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)			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)		ATTAGATAGCGCTTCATTGTA	0.408																																						ENST00000270649.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(898-900)Cgc>Tgc		zinc finger protein 614							120.0	107.0	112.0					19																	52519953		2203	4300	6503	SO:0001583	missense	80110	1	121412	38				g.chr19:52519953G>A	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.898C>T	chr19.hg19:g.52519953G>A	ENSP00000270649:p.Arg300Cys	0					ZNF614_ENST00000356322.6_Intron	p.R300C	NM_025040.3	NP_079316.2	1	2	3	2.010022	Q8N883	ZN614_HUMAN		5	1442	-		all_neural(266;0.0505)	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	1	1	hg19	c.898C>T	CCDS12847.1	1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920886	0.17982	.	.	ENSG00000142556	ENST00000270649	T	0.15487	2.42	3.85	-1.13	0.09775	3.85	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.39514	1.22	0.09310	N	1	D	0.62365	0.991	P	0.48654	0.585	T	0.18745	-1.0327	9	0.59425	D	0.04	.	0.7601	0.01005	0.284:0.2795:0.2808:0.1557	.	300	Q8N883	ZN614_HUMAN	C	300	ENSP00000270649:R300C	ENSP00000270649:R300C	R	-	1	0	0	ZNF614	57211765	57211765	0.000000	0.05858	0.074000	0.20217	0.993000	0.82548	-0.955000	0.03869	0.290000	0.22444	0.655000	0.94253	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000	NM_025040			96	95		496	487	1		1	0		0	0	114	0		1	6.477662e-01	0	1	0	12	0	96	496
ZNF614	80110	broad.mit.edu	37	19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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)			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)		GTCTTGCTGAGATGTACAATA	0.358																																						ENST00000270649.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(346-348)Ctc>Atc		zinc finger protein 614							93.0	88.0	90.0					19																	52520505		2203	4300	6503	SO:0001583	missense	80110	0	0					g.chr19:52520505G>T	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.346C>A	chr19.hg19:g.52520505G>T	ENSP00000270649:p.Leu116Ile	0					ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	p.L116I	NM_025040.3	NP_079316.2	1	2	3	2.010022	Q8N883	ZN614_HUMAN		5	890	-		all_neural(266;0.0505)	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	1	1	hg19	c.346C>A	CCDS12847.1	1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005997	0.07773	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.93;3.17	2.58	0.269	0.15631	2.58	0.269	0.15631	.	.	.	.	.	T	0.04272	0.0118	L	0.27053	0.805	0.20196	N	0.999921	P;P	0.44195	0.828;0.69	B;B	0.36289	0.221;0.109	T	0.38457	-0.9660	9	0.23302	T	0.38	.	3.6231	0.08103	0.1561:0.263:0.5809:0.0	.	116;116	Q8N883;Q9BSN8	ZN614_HUMAN;.	I	116	ENSP00000348674:L116I;ENSP00000270649:L116I	ENSP00000270649:L116I	L	-	1	0	0	ZNF614	57212317	57212317	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	-0.340000	0.07821	0.145000	0.18977	0.591000	0.81541	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_025040			51	51		220	217	1		1	1		0	0	47	0		1	8.020041e-01	0	2	0	13	0	51	220
ZNF432	9668	broad.mit.edu	37	19	52550105	52550105	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000597273.1_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 432						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(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)		AGAAAAAGTCACCTGGGCATT	0.363																																						ENST00000594154.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.e2+1		zinc finger protein 432							86.0	78.0	81.0					19																	52550105		2203	4300	6503	SO:0001630	splice_region_variant	9668	0	0					g.chr19:52550105A>G	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.15+1T>C	chr19.hg19:g.52550105A>G		0					ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000597273.1_Splice_Site				1	2	3	2.010022	O94892	ZN432_HUMAN		2	228	-		all_neural(266;0.117)		Splice_Site	SNP	ENST00000594154.1	1	1	hg19		CCDS12848.1	1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614332	0.28712	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.8	2.8	0.32819	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4475	0.27219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ZNF432	57241917	57241917	0.993000	0.37304	0.933000	0.37362	0.574000	0.36063	2.304000	0.43655	1.508000	0.48769	0.496000	0.49642	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-19.932730	1	0.170000	NM_014650	Intron		37	37		173	171	1		1			0	0	46	0		1	0	0	0	0	0	0	37	173
ZNF616	90317	broad.mit.edu	37	19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(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)		CGACAAATAAAAGATTTCCCA	0.408																																						ENST00000600228.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2260-2262)Ttt>Gtt		zinc finger protein 616							136.0	130.0	132.0					19																	52618157		2203	4300	6503	SO:0001583	missense	90317	0	0					g.chr19:52618157A>C	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.2260T>G	chr19.hg19:g.52618157A>C	ENSP00000471000:p.Phe754Val	0					ZNF616_ENST00000330123.5_3'UTR	p.F754V	NM_178523.3	NP_848618.2	1	2	3	2.010022	Q08AN1	ZN616_HUMAN		4	2521	-			B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	1	1	hg19	c.2260T>G	CCDS33090.1	1	.	.	.	.	.	.	.	.	.	.	A	9.284	1.048981	0.19827	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	0.916	0.19373	2.04	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79913	0.4528	H	0.98351	4.21	0.09310	N	0.999998	D	0.69078	0.997	D	0.87578	0.998	T	0.66571	-0.5890	8	0.87932	D	0	.	6.943	0.24502	0.7646:0.2354:0.0:0.0	.	754	Q08AN1	ZN616_HUMAN	V	754	.	ENSP00000328722:F754V	F	-	1	0	0	ZNF616	57309969	57309969	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.690000	0.37711	0.036000	0.15547	-0.636000	0.03981	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	XM_030892			101	99		363	361	1		1	1		0	0	87	0		1	9.944363e-01	0	5	0	26	0	101	363
ZNF616	90317	broad.mit.edu	37	19	52618727	52618727	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618727G>T	ENST00000600228.1	-	4	1951	c.1690C>A	c.(1690-1692)Ctt>Att	p.L564I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGCACTGTAAGACGTGAACAT	0.443																																						ENST00000600228.1	1.000000	0.120000	4.000000e-01	1.800000e-01	0.260000	0.330174	0.260000	0.250000																										0				48						c.(1690-1692)Ctt>Att		zinc finger protein 616							115.0	102.0	106.0					19																	52618727		2203	4300	6503	SO:0001583	missense	90317	0	0					g.chr19:52618727G>T	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.1690C>A	chr19.hg19:g.52618727G>T	ENSP00000471000:p.Leu564Ile	0					ZNF616_ENST00000330123.5_3'UTR	p.L564I	NM_178523.3	NP_848618.2	1	2	3	2.010022	Q08AN1	ZN616_HUMAN		4	1951	-			B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	0	1	hg19	c.1690C>A	CCDS33090.1	0	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739390	0.30774	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.24	-1.25	0.09405	1.24	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65196	0.2668	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.79784	0.993	T	0.53995	-0.8359	8	0.72032	D	0.01	.	2.527	0.04694	0.3208:0.0:0.4485:0.2307	.	564	Q08AN1	ZN616_HUMAN	I	564	.	ENSP00000328722:L564I	L	-	1	0	0	ZNF616	57310539	57310539	0.048000	0.20356	0.000000	0.03702	0.038000	0.13279	0.316000	0.19469	-0.339000	0.08401	-0.350000	0.07774	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	0	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-7.697960	1	0.170000	XM_030892			8	8		379	371	0		1	0		0	0	77	0		9.886109e-01	2.452744e-01	0	0	0	41	0	8	379
ZNF616	90317	broad.mit.edu	37	19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TATTACCTGTCTTCTCCGTTT	0.373																																						ENST00000600228.1	1.000000	0.790000	1	9.100000e-01	0.990000	0.970201	0.990000	1.000000																										0				48						c.(502-504)aaG>aaT		zinc finger protein 616							161.0	150.0	154.0					19																	52619913		2203	4300	6503	SO:0001583	missense	90317	0	0					g.chr19:52619913C>A	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.504G>T	chr19.hg19:g.52619913C>A	ENSP00000471000:p.Lys168Asn	0					ZNF616_ENST00000330123.5_3'UTR	p.K168N	NM_178523.3	NP_848618.2	1	2	3	2.010022	Q08AN1	ZN616_HUMAN		4	765	-			B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	1	1	hg19	c.504G>T	CCDS33090.1	1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418606	0.11870	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.48	0.16804	1.64	0.48	0.16804	.	.	.	.	.	T	0.46054	0.1373	M	0.82823	2.61	0.09310	N	1	P	0.41450	0.75	B	0.43360	0.417	T	0.40136	-0.9579	8	0.56958	D	0.05	.	4.9941	0.14230	0.0:0.6544:0.0:0.3456	.	168	Q08AN1	ZN616_HUMAN	N	168	.	ENSP00000328722:K168N	K	-	3	2	2	ZNF616	57311725	57311725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.389000	0.02530	0.029000	0.15352	0.305000	0.20034	AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-14.970210	1	0.170000	XM_030892			54	54		562	554	0		1	0		0	0	133	0		1	6.586270e-01	0	0	0	25	0	54	562
ZNF836	162962	broad.mit.edu	37	19	52658722	52658722	+	Silent	SNP	C	C	T	rs139619574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ZNF836_ENST00000597252.1_Silent_p.T738T|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGATGGTACGTCAGGCCTG	0.418													c|||	3	0.000599042	0.0015	0.0	5008	,	,		20531	0.0		0.001	False		,,,				2504	0.0					ENST00000322146.8	1.000000	0.740000	1	9.100000e-01	0.990000	0.968452	0.990000	1.000000																										0				26						c.(2212-2214)acG>acA		zinc finger protein 836		C		1,4239		0,1,2119	82.0	85.0	84.0		2214	-4.2	0.0	19	dbSNP_134	84	0,8494		0,0,4247	no	coding-synonymous	ZNF836	NM_001102657.1		0,1,6366	TT,TC,CC		0.0,0.0236,0.0079		738/937	52658722	1,12733	2120	4247	6367	SO:0001819	synonymous_variant	162962	5	121102	39				g.chr19:52658722C>T	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.2214G>A	chr19.hg19:g.52658722C>T		0					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T738T	p.T738T	NM_001102657.1	NP_001096127.1	1	2	3	2.010022	Q6ZNA1	ZN836_HUMAN		5	2735	-				Silent	SNP	ENST00000322146.8	1	1	hg19	c.2214G>A	CCDS46162.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.318794	1	0.170000	NM_001102657			26	26		255	251	0		1	0		0	0	51	0		9.999999e-01	1.749936e-01	0	1	0	7	0	26	255
ZNF836	162962	broad.mit.edu	37	19	52658887	52658887	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	ZNF836_ENST00000597252.1_Silent_p.K683K|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTATCAGATGTTTAGTGAGGC	0.388																																						ENST00000322146.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2047-2049)aaA>aaG		zinc finger protein 836							83.0	90.0	88.0					19																	52658887		2135	4257	6392	SO:0001819	synonymous_variant	162962	0	0					g.chr19:52658887T>C	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.2049A>G	chr19.hg19:g.52658887T>C		0					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.K683K	p.K683K	NM_001102657.1	NP_001096127.1	1	2	3	2.010022	Q6ZNA1	ZN836_HUMAN		5	2570	-				Silent	SNP	ENST00000322146.8	1	1	hg19	c.2049A>G	CCDS46162.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	1	0	1		2	2	2	0		0	0	83		83	80	1	2.060000	-20.000000	1	0.170000	NM_001102657			93	92		399	394	1		1	0		0	0	83	0		1	3.199506e-01	0	1	0	5	0	93	399
PPP2R1A	5518	broad.mit.edu	37	19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|CTD-2525I3.3_ENST00000599125.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	569	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTGACCCAGGACCAGGATG	0.567			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom?	yes			Dom?	yes		19	19q13.41	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""				E	E			clear cell ovarian carcinoma		0				135						c.(1705-1707)caG>caT		protein phosphatase 2, regulatory subunit A, alpha							143.0	139.0	140.0					19																	52729015		2203	4300	6503	SO:0001583	missense	5518	1	121412	31				g.chr19:52729015G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1707G>T	chr19.hg19:g.52729015G>T	ENSP00000324804:p.Gln569His	0					CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|CTD-2525I3.3_ENST00000599125.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H	p.Q569H	NM_014225.5	NP_055040.2	1	2	3	2.010022	P30153	2AAA_HUMAN		14	1765	+			Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	1	1	hg19	c.1707G>T	CCDS12849.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080854	0.36758	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.33438	1.41;2.36	4.33	4.33	0.51752	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000048	T	0.25082	0.0609	L	0.45228	1.405	0.46927	D	0.999252	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.09530	-1.0670	10	0.62326	D	0.03	-26.7592	8.3321	0.32193	0.1055:0.0:0.8945:0.0	.	514;569	F5H3X9;P30153	.;2AAA_HUMAN	H	559;489;569;136;514	ENSP00000324804:Q569H;ENSP00000415067:Q514H	ENSP00000324804:Q569H	Q	+	3	2	2	PPP2R1A	57420827	57420827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.085000	0.30840	2.413000	0.81919	0.650000	0.86243	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	1	0	1		2	2	2	0		0	0	164		164	163	1	2.060000	-3.171615	1	0.170000	NM_014225			94	92		416	407	1		1	1		0	0	164	0		1	1	0	318	0	820	0	94	416
ZNF480	147657	broad.mit.edu	37	19	52819145	52819145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52819145G>A	ENST00000595962.1	+	4	324	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGGAGCCCTGGTCTGGTGAGA	0.443																																						ENST00000595962.1	1.000000	0.150000	5.600000e-01	2.400000e-01	0.360000	0.421991	0.360000	0.330000																										0				12						c.(256-258)tgG>tgA		zinc finger protein 480							77.0	72.0	74.0					19																	52819145		2203	4300	6503	SO:0001587	stop_gained	147657	0	0					g.chr19:52819145G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.258G>A	chr19.hg19:g.52819145G>A	ENSP00000471754:p.Trp86*	0					ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000490272.1_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*	p.W86*	NM_144684.2	NP_653285.2	1	2	3	2.010022	Q8WV37	ZN480_HUMAN		4	324	+			Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	0	1	hg19	c.258G>A	CCDS12850.2	0	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172166	0.38315	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000335090	.	.	.	2.03	2.03	0.26663	2.03	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5407	0.27737	0.0:0.0:1.0:0.0	.	.	.	.	X	108;86;9	.	ENSP00000335670:W9X	W	+	3	0	0	ZNF480	57510957	57510957	0.041000	0.20044	0.005000	0.12908	0.004000	0.04260	2.735000	0.47377	1.136000	0.42199	0.539000	0.68188	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-8.623130	1	0.170000	NM_144684			7	7		242	232	0		1	1		0	0	51	0		9.780362e-01	5.386757e-01	0	2	0	57	0	7	242
ZNF480	147657	broad.mit.edu	37	19	52825079	52825080	+	Nonsense_Mutation	DNP	AG	AG	CT	rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079_52825080AG>CT	ENST00000595962.1	+	5	642_643	c.576_577AG>CT	c.(574-579)caAGaa>caCTaa	p.192_193QE>H*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.149_150QE>H*|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.115_116QE>H*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAGT	0.361																																						ENST00000595962.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998|0.999996	0.990000	1.000000																										0				12						c.(574-576)caA>caC|c.(577-579)Gaa>Taa		zinc finger protein 480																																				SO:0001587	stop_gained	147657	0	0					g.chr19:52825079A>C|g.chr19:52825080G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	Exception_encountered	chr19.hg19:g.52825079_52825080delinsCT	ENSP00000471754:p.Q192_E193delinsH*	0					ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*	p.Q192H|p.E193*	NM_144684.2	NP_653285.2	1	2	3	2.010022	Q8WV37	ZN480_HUMAN		5	642|643	+			Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000595962.1	1|0	1	hg19	c.576A>C|c.577G>T	CCDS12850.2	1																									1.99	-2.69|-0.868	0.06022|0.10652																																												2|0			57516891|57516892														1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.361	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_144684			63|62	62|61		396|395	392|391	1		1	1		0	0	92	0		1	7.000214e-01|6.936601e-01	0	7	0	10	0	62	395
ZNF480	147657	broad.mit.edu	37	19	52825103	52825103	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000595962.1	+	5	666	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_ENST00000334564.7_Silent_p.E157E|ZNF480_ENST00000335090.6_Silent_p.E123E|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338																																						ENST00000595962.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(598-600)gaA>gaG		zinc finger protein 480							81.0	84.0	83.0					19																	52825103		2203	4300	6503	SO:0001819	synonymous_variant	147657	0	0					g.chr19:52825103A>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.600A>G	chr19.hg19:g.52825103A>G		0					ZNF480_ENST00000334564.7_Silent_p.E157E|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.E123E	p.E200E	NM_144684.2	NP_653285.2	1	2	3	2.010022	Q8WV37	ZN480_HUMAN		5	666	+			Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	1	1	hg19	c.600A>G	CCDS12850.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_144684			64	63		372	367	1		1	1		0	0	92	0		1	7.900693e-01	0	6	0	13	0	64	372
ZNF480	147657	broad.mit.edu	37	19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000595962.1	+	5	751	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358																																						ENST00000595962.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(685-687)Aaa>Caa		zinc finger protein 480							55.0	56.0	56.0					19																	52825188		2203	4300	6503	SO:0001583	missense	147657	0	0					g.chr19:52825188A>C	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.685A>C	chr19.hg19:g.52825188A>C	ENSP00000471754:p.Lys229Gln	0					ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q	p.K229Q	NM_144684.2	NP_653285.2	1	2	3	2.010022	Q8WV37	ZN480_HUMAN		5	751	+			Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	1	1	hg19	c.685A>C	CCDS12850.2	1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852413	0.32699	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.27104	1.69;1.69;1.69	1.99	1.99	0.26369	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43344	0.1243	M	0.88031	2.925	0.23542	N	0.997456	D;P	0.57257	0.979;0.638	P;B	0.51777	0.679;0.15	T	0.32214	-0.9915	9	0.87932	D	0	.	7.566	0.27879	1.0:0.0:0.0:0.0	.	186;229	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	229;186;152	ENSP00000417424:K229Q;ENSP00000334164:K186Q;ENSP00000335670:K152Q	ENSP00000334164:K186Q	K	+	1	0	0	ZNF480	57517000	57517000	0.333000	0.24731	0.044000	0.18714	0.055000	0.15305	2.755000	0.47540	0.894000	0.36317	0.383000	0.25322	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_144684			65	65		279	274	1		1	0		0	0	57	0		1	8.764221e-01	0	1	0	17	0	65	279
ZNF480	147657	broad.mit.edu	37	19	52825413	52825413	+	Nonsense_Mutation	SNP	C	C	T	rs201847817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825413C>T	ENST00000595962.1	+	5	976	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTACCTTGCACGACATCAAAG	0.348																																						ENST00000595962.1	1.000000	0.320000	7.500000e-01	4.200000e-01	0.550000	0.592815	0.550000	0.530000																										0				12						c.(910-912)Cga>Tga		zinc finger protein 480							62.0	67.0	65.0					19																	52825413		2203	4300	6503	SO:0001587	stop_gained	147657	16	121412	41				g.chr19:52825413C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.910C>T	chr19.hg19:g.52825413C>T	ENSP00000471754:p.Arg304*	0					ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*	p.R304*	NM_144684.2	NP_653285.2	1	2	3	2.010022	Q8WV37	ZN480_HUMAN		5	976	+			Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	0	1	hg19	c.910C>T	CCDS12850.2	0	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749100	0.30955	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.34	-4.69	0.03299	2.34	-4.69	0.03299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.7913	0.23701	0.2683:0.5136:0.218:0.0	.	.	.	.	X	304;261;227	.	ENSP00000334164:R261X	R	+	1	2	2	ZNF480	57517225	57517225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.847000	0.00351	-1.043000	0.03258	-0.499000	0.04595	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.395987	1	0.170000	NM_144684			15	15		319	312	0		1	0		0	0	61	0		9.998596e-01	1.592162e-01	0	1	0	14	0	15	319
ZNF880	400713	broad.mit.edu	37	19	52887625	52887625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	264					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TACATACTGGAGAGAAACCTT	0.398																																						ENST00000422689.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(790-792)ggA>ggG		zinc finger protein 880							44.0	42.0	43.0					19																	52887625		1568	3582	5150	SO:0001819	synonymous_variant	400713	0	0					g.chr19:52887625A>G	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.792A>G	chr19.hg19:g.52887625A>G		0						p.G264G	NM_001145434.1	NP_001138906.1	1	2	3	2.010022	Q6PDB4	ZN880_HUMAN		4	807	+			B4DNA6	Silent	SNP	ENST00000422689.2	1	1	hg19	c.792A>G	CCDS46164.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_001145434			37	37		132	128	1		1	0		0	0	50	0		1	9.918671e-01	0	0	0	29	0	37	132
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TCAAAGCTTGCACAACATCAA	0.368																																						ENST00000360465.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(853-855)gCa>gTa		zinc finger protein 528							91.0	96.0	94.0					19																	52918959		2203	4300	6503	SO:0001583	missense	84436	0	0					g.chr19:52918959C>T	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.854C>T	chr19.hg19:g.52918959C>T	ENSP00000353652:p.Ala285Val	0					ZNF528_ENST00000391788.2_3'UTR	p.A285V	NM_032423.2	NP_115799.2	1	2	3	2.010022	Q3MIS6	ZN528_HUMAN		7	1280	+			B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	1	1	hg19	c.854C>T	CCDS33091.1	1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242377	0.10077	.	.	ENSG00000167555	ENST00000360465	T	0.36520	1.25	1.99	-3.97	0.04094	1.99	-3.97	0.04094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21617	0.685	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.16070	-1.0415	9	0.26408	T	0.33	.	6.4275	0.21778	0.1437:0.564:0.0:0.2923	.	285	Q3MIS6	ZN528_HUMAN	V	285	ENSP00000353652:A285V	ENSP00000353652:A285V	A	+	2	0	0	ZNF528	57610771	57610771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.317000	0.02707	-1.826000	0.01205	-1.564000	0.00881	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	0	0	1		15	2	2	1		1	1	121		121	119	1	2.060000	-20.000000	1	0.170000	NM_032423			75	75		397	393	1		1	0		1	0	121	0		1	3.115686e-01	0	1	0	6	0	75	397
ZNF528	84436	broad.mit.edu	37	19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000360465.3	+	7	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	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)			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)		ATACGACATCGAAAAACTCAT	0.398																																						ENST00000360465.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1282-1284)cGa>cAa		zinc finger protein 528							75.0	76.0	76.0					19																	52919388		2203	4300	6503	SO:0001583	missense	84436	1	121412	32				g.chr19:52919388G>A	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.1283G>A	chr19.hg19:g.52919388G>A	ENSP00000353652:p.Arg428Gln	0					ZNF528_ENST00000391788.2_3'UTR	p.R428Q	NM_032423.2	NP_115799.2	1	2	3	2.010022	Q3MIS6	ZN528_HUMAN		7	1709	+			B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	1	1	hg19	c.1283G>A	CCDS33091.1	1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484420	0.01027	.	.	ENSG00000167555	ENST00000360465	T	0.36878	1.23	1.97	-3.0	0.05480	1.97	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.16066	0.365	0.09310	N	1	B	0.32573	0.376	B	0.16289	0.015	T	0.27673	-1.0067	9	0.02654	T	1	.	2.9264	0.05786	0.557:0.0:0.2562:0.1869	.	428	Q3MIS6	ZN528_HUMAN	Q	428	ENSP00000353652:R428Q	ENSP00000353652:R428Q	R	+	2	0	0	ZNF528	57611200	57611200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-1.027000	0.03325	-1.087000	0.02190	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.335702	1	0.170000	NM_032423			61	61		313	308	1		1	0		0	0	62	0		1	4.499782e-01	0	0	0	9	0	61	313
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	rs151189562	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0					ENST00000332323.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(649-651)cGt>cAt		zinc finger protein 534		G	HIS/ARG,HIS/ARG	2,3134		0,2,1566	102.0	90.0	94.0		611,650	0.5	0.0	19	dbSNP_134	94	0,7164		0,0,3582	no	missense,missense	ZNF534	NM_001143938.1,NM_001143939.1	29,29	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,benign	204/662,217/675	52941324	2,10298	1568	3582	5150	SO:0001583	missense	147658	5	120884	41				g.chr19:52941324G>A	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.650G>A	chr19.hg19:g.52941324G>A	ENSP00000327538:p.Arg217His	0					ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron	p.R217H	NM_001143939.1	NP_001137411.1	1	2	3	2.010022	Q76KX8	ZN534_HUMAN		4	711	+			Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	1	1	hg19	c.650G>A	CCDS46165.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	0	ZNF534	57633136	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_182512			69	68		237	232	1		1			0	0	83	0		1	0	0	0	0	0	0	69	237
ZNF534	147658	broad.mit.edu	37	19	52942497	52942497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942497G>A	ENST00000332323.6	+	4	1884	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACCTTGCGCGACATAGGAAA	0.418																																						ENST00000332323.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.997546	0.990000	1.000000																										0				4						c.(1822-1824)cGa>cAa		zinc finger protein 534							45.0	43.0	44.0					19																	52942497		692	1591	2283	SO:0001583	missense	147658	0	0					g.chr19:52942497G>A	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.1823G>A	chr19.hg19:g.52942497G>A	ENSP00000327538:p.Arg608Gln	0					ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron	p.R608Q	NM_001143939.1	NP_001137411.1	1	2	3	2.010022	Q76KX8	ZN534_HUMAN		4	1884	+			Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	0	1	hg19	c.1823G>A	CCDS46165.1	1	.	.	.	.	.	.	.	.	.	.	g	3.181	-0.167843	0.06461	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.26223	1.75;1.75	1.72	-3.44	0.04796	1.72	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.25144	0.715	0.09310	N	1	P;P	0.38250	0.571;0.624	B;B	0.17979	0.012;0.02	T	0.33189	-0.9878	9	0.12766	T	0.61	.	3.2751	0.06896	0.2522:0.0:0.3274:0.4205	.	595;608	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Q	608;595;607	ENSP00000327538:R608Q;ENSP00000391358:R595Q	ENSP00000327538:R608Q	R	+	2	0	0	ZNF534	57634309	57634309	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-9.259000	0.00012	-0.948000	0.03668	0.405000	0.27470	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	0	0	0		2	2	2	0		0	0	16		16	17	1	2.060000	-18.142490	1	0.170000	NM_182512			9	8		38	34	0		1			0	0	16	0		9.928840e-01	0	0	0	0	0	0	9	38
ZNF578	147660	broad.mit.edu	37	19	53005079	53005079	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	ENST00000421239.2	+	4	225		c.e4-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCACATACAGGATTGATTTC	0.438																																						ENST00000421239.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.e4-1		zinc finger protein 578							151.0	158.0	156.0					19																	53005079		2203	4300	6503	SO:0001630	splice_region_variant	147660	0	0					g.chr19:53005079G>T	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.-19-1G>T	chr19.hg19:g.53005079G>T		0							NM_001099694.1	NP_001093164.1	1	2	3	2.010022	Q96N58	ZN578_HUMAN		4	225	+			B4DR51|I3L1Y6	Splice_Site	SNP	ENST00000421239.2	1	1	hg19		CCDS54310.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	1	0	1		2	2	2	0		0	0	88		88	89	1	2.060000	-2.905428	1	0.170000	NM_152472	Intron		76	76		317	314	0		1			0	0	88	0		1	0	0	0	0	0	0	76	317
ZNF578	147660	broad.mit.edu	37	19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	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)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408																																						ENST00000421239.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(454-456)aTt>aGt		zinc finger protein 578							153.0	153.0	153.0					19																	53014089		2203	4300	6503	SO:0001583	missense	147660	0	0					g.chr19:53014089T>G	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.455T>G	chr19.hg19:g.53014089T>G	ENSP00000459216:p.Ile152Ser	0					CTD-3099C6.5_ENST00000599143.1_RNA	p.I152S	NM_001099694.1	NP_001093164.1	1	2	3	2.010022	Q96N58	ZN578_HUMAN		6	699	+			B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	1	1	hg19	c.455T>G	CCDS54310.1	1	.	.	.	.	.	.	.	.	.	.	-	12.89	2.074217	0.36566	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.27	1.27	0.21489	1.27	1.27	0.21489	.	.	.	.	.	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	P	0.52061	0.95	P	0.46718	0.525	T	0.11060	-1.0603	7	.	.	.	.	6.038	0.19718	0.0:0.0:0.0:1.0	.	152	G3V4F6	.	S	152	.	.	I	+	2	0	0	ZNF578	57705901	57705901	0.000000	0.05858	0.019000	0.16419	0.195000	0.23768	0.305000	0.19254	0.574000	0.29417	0.113000	0.15668	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	0	0	1		2	2	2	0		0	0	228		228	223	1	2.060000	-20.000000	1	0.170000	NM_152472			154	152		727	706	1		1	0		0	0	228	0		1	0	0	0	0	1	0	154	727
ZNF808	388558	broad.mit.edu	37	19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGAGTGGCAAAGCCTTTAATT	0.373																																						ENST00000359798.4	1.000000	0.310000	5.600000e-01	3.800000e-01	0.450000	0.502715	0.450000	0.440000																										0				24						c.(712-714)aaA>aaC		zinc finger protein 808							144.0	147.0	146.0					19																	53056883		2203	4300	6503	SO:0001583	missense	388558	0	0					g.chr19:53056883A>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.714A>C	chr19.hg19:g.53056883A>C	ENSP00000352846:p.Lys238Asn	0						p.K238N	NM_001039886.3	NP_001034975.2	1	2	3	2.010022	Q8N4W9	ZN808_HUMAN		5	894	+			Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	1	1	hg19	c.714A>C	CCDS46167.1	0	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839190	0.32513	.	.	ENSG00000198482	ENST00000359798	T	0.22134	1.97	1.57	-2.54	0.06307	1.57	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47078	0.1426	M	0.92367	3.3	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.33803	-0.9854	9	0.66056	D	0.02	.	7.1187	0.25431	0.5911:0.0:0.4089:0.0	.	238	Q8N4W9	ZN808_HUMAN	N	238	ENSP00000352846:K238N	ENSP00000352846:K238N	K	+	3	2	2	ZNF808	57748695	57748695	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.148000	0.16224	-0.600000	0.05790	0.254000	0.18369	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	0	0	1		2	2	2	0		0	0	225		225	233	1	2.060000	-4.365501	1	0.170000	NM_001039886			35	33		889	863	0		1	0		0	0	225	0		1	1.428595e-02	0	0	0	5	0	35	889
ZNF808	388558	broad.mit.edu	37	19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A	rs573679515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433																																						ENST00000359798.4	1.000000	0.630000	1	7.400000e-01	0.870000	0.868464	0.870000	1.000000																										0				24						c.(1465-1467)cGc>cAc		zinc finger protein 808							84.0	89.0	87.0					19																	53057635		2203	4300	6503	SO:0001583	missense	388558	2	121408	40				g.chr19:53057635G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1466G>A	chr19.hg19:g.53057635G>A	ENSP00000352846:p.Arg489His	0						p.R489H	NM_001039886.3	NP_001034975.2	1	2	3	2.010022	Q8N4W9	ZN808_HUMAN		5	1646	+			Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	1	1	hg19	c.1466G>A	CCDS46167.1	1	.	.	.	.	.	.	.	.	.	.	.	6.792	0.515038	0.12944	.	.	ENSG00000198482	ENST00000359798	T	0.14893	2.47	1.5	0.355	0.16069	1.5	0.355	0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.9106	0.24333	0.1648:0.0:0.8352:0.0	.	489	Q8N4W9	ZN808_HUMAN	H	489	ENSP00000352846:R489H	ENSP00000352846:R489H	R	+	2	0	0	ZNF808	57749447	57749447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.020000	0.14032	-1.098000	0.02139	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	1	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-9.633039	1	0.170000	NM_001039886			42	42		539	532	0		1	0		0	0	134	0		1	1.652190e-01	0	0	0	10	0	42	539
ZNF808	388558	broad.mit.edu	37	19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408																																						ENST00000359798.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1918-1920)cGa>cAa		zinc finger protein 808							66.0	70.0	69.0					19																	53058088		2201	4299	6500	SO:0001583	missense	388558	3	121400	35				g.chr19:53058088G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1919G>A	chr19.hg19:g.53058088G>A	ENSP00000352846:p.Arg640Gln	0						p.R640Q	NM_001039886.3	NP_001034975.2	1	2	3	2.010022	Q8N4W9	ZN808_HUMAN		5	2099	+			Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	1	1	hg19	c.1919G>A	CCDS46167.1	1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798472	0.02841	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.58	-3.16	0.05217	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.12430	T	0.62	.	3.3187	0.07043	0.2243:0.0:0.2726:0.503	.	640	Q8N4W9	ZN808_HUMAN	Q	640	ENSP00000352846:R640Q	ENSP00000352846:R640Q	R	+	2	0	0	ZNF808	57749900	57749900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.414000	0.00021	-1.761000	0.01310	-0.752000	0.03492	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.805253	1	0.170000	NM_001039886			82	81		312	304	1		1	0		0	0	83	0		1	7.456881e-01	0	1	0	11	0	82	312
ZNF701	55762	broad.mit.edu	37	19	53085712	53085712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	ENST00000540331.1	+	5	823	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGCTGGAAACAAACCTATTAA	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1	1.000000	0.380000	6.800000e-01	4.600000e-01	0.550000	0.587349	0.550000	0.540000																										0				14						c.(598-600)Aaa>Gaa		zinc finger protein 701							117.0	116.0	116.0					19																	53085712		2203	4300	6503	SO:0001583	missense	55762	0	0					g.chr19:53085712A>G	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.598A>G	chr19.hg19:g.53085712A>G	ENSP00000444339:p.Lys200Glu	0					ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E	p.K200E	NM_001172655.1	NP_001166126.1	1	2	3	2.010022	Q9NV72	ZN701_HUMAN		5	823	+			A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	1	1	hg19	c.598A>G	CCDS54311.1	0	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964412	0.34659	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05081	3.5;3.52;3.52	1.81	0.721	0.18219	1.81	0.721	0.18219	.	.	.	.	.	T	0.24624	0.0597	M	0.91717	3.235	0.09310	N	1	P;D	0.63880	0.828;0.993	B;D	0.70935	0.44;0.971	T	0.07908	-1.0748	9	0.87932	D	0	.	3.7202	0.08453	0.7809:0.0:0.2191:0.0	.	200;134	F5GZM6;Q9NV72	.;ZN701_HUMAN	E	134;200;200	ENSP00000375662:K134E;ENSP00000301093:K200E;ENSP00000444339:K200E	ENSP00000301093:K200E	K	+	1	0	0	ZNF701	57777524	57777524	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	2.404000	0.44539	-0.003000	0.14444	0.254000	0.18369	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	0	0	1		2	2	2	0		0	0	183		183	183	1	2.060000	-20.000000	1	0.170000	NM_018260			36	36		754	742	0		1	0		0	0	183	0		1	2.942365e-02	0	0	0	6	0	36	754
ZNF701	55762	broad.mit.edu	37	19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1198-1200)Gtt>Att		zinc finger protein 701							81.0	84.0	83.0					19																	53086312		2203	4297	6500	SO:0001583	missense	55762	0	0					g.chr19:53086312G>A	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.1198G>A	chr19.hg19:g.53086312G>A	ENSP00000444339:p.Val400Ile	0					ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I	p.V400I	NM_001172655.1	NP_001166126.1	1	2	3	2.010022	Q9NV72	ZN701_HUMAN		5	1423	+			A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	1	1	hg19	c.1198G>A	CCDS54311.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01015	5.44;5.44;5.44	1.87	0.685	0.18009	1.87	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.41961	1.31	0.09310	N	1	P;D	0.63046	0.881;0.992	B;D	0.77004	0.406;0.989	T	0.50065	-0.8871	9	0.72032	D	0.01	.	2.9813	0.05954	0.1571:0.0:0.3677:0.4751	.	400;334	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	334;400;400	ENSP00000375662:V334I;ENSP00000301093:V400I;ENSP00000444339:V400I	ENSP00000301093:V400I	V	+	1	0	0	ZNF701	57778124	57778124	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.156000	0.01283	0.091000	0.17302	0.400000	0.26472	GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	1	0	0		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_018260			80	80		506	500	1		1	0		0	0	126	0		1	2.497962e-01	0	0	0	7	0	80	506
ZNF701	55762	broad.mit.edu	37	19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	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)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1234-1236)aGa>aTa		zinc finger protein 701							92.0	94.0	93.0					19																	53086349		2203	4300	6503	SO:0001583	missense	55762	0	0					g.chr19:53086349G>T	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.1235G>T	chr19.hg19:g.53086349G>T	ENSP00000444339:p.Arg412Ile	0					ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I	p.R412I	NM_001172655.1	NP_001166126.1	1	2	3	2.010022	Q9NV72	ZN701_HUMAN		5	1460	+			A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	1	1	hg19	c.1235G>T	CCDS54311.1	1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382750	0.25031	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.24908	1.83;1.83;1.83	1.87	-2.88	0.05682	1.87	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35480	0.0933	M	0.81341	2.54	0.09310	N	1	P;D	0.60575	0.619;0.988	B;P	0.56514	0.094;0.8	T	0.25537	-1.0129	9	0.45353	T	0.12	.	0.9989	0.01473	0.2602:0.1741:0.3898:0.1759	.	412;346	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	346;412;412	ENSP00000375662:R346I;ENSP00000301093:R412I;ENSP00000444339:R412I	ENSP00000301093:R412I	R	+	2	0	0	ZNF701	57778161	57778161	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-4.934000	0.00168	-0.245000	0.09625	-0.530000	0.04314	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	1	0	0		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_018260			125	122		531	522	1		1	0		0	0	134	0		1	9.639539e-02	0	0	0	3	0	125	531
ZNF83	55769	broad.mit.edu	37	19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373																																						ENST00000597597.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(223-225)tTt>tGt		zinc finger protein 83							70.0	72.0	72.0					19																	53117594		2203	4300	6503	SO:0001583	missense	55769	0	0					g.chr19:53117594A>C	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.224T>G	chr19.hg19:g.53117594A>C	ENSP00000472619:p.Phe75Cys	0					ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C	p.F75C			1	2	3	2.010022	P51522	ZNF83_HUMAN		2	2477	-			A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	1	1	hg19	c.224T>G	CCDS12854.1	1	.	.	.	.	.	.	.	.	.	.	a	12.24	1.877900	0.33162	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09163	3.03;3.03;3.03;3.03;3.03;3.01	2.43	2.43	0.29744	2.43	2.43	0.29744	.	.	.	.	.	T	0.34019	0.0883	M	0.88377	2.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.83275	0.889;0.996	T	0.06463	-1.0825	9	0.36615	T	0.2	.	8.3566	0.32333	1.0:0.0:0.0:0.0	.	75;75	P51522-2;P51522	.;ZNF83_HUMAN	C	75	ENSP00000445993:F75C;ENSP00000301096:F75C;ENSP00000445470:F75C;ENSP00000440713:F75C;ENSP00000439681:F75C;ENSP00000375666:F75C	ENSP00000301096:F75C	F	-	2	0	0	ZNF83	57809406	57809406	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.099000	0.41499	0.482000	0.46254	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_018300			58	56		222	216	1		1	1		0	0	71	0		1	9.914810e-01	0	8	0	23	0	58	222
ZNF611	81856	broad.mit.edu	37	19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000319783.1	-	7	2073	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)		ACTATGAACTCTATGATGGCA	0.438																																						ENST00000319783.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1756-1758)aGa>aTa		zinc finger protein 611							258.0	235.0	243.0					19																	53208551		2203	4300	6503	SO:0001583	missense	81856	0	0					g.chr19:53208551C>A	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.1757G>T	chr19.hg19:g.53208551C>A	ENSP00000322427:p.Arg586Ile	0					ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I	p.R586I	NM_030972.3	NP_112234.3	1	2	3	2.010022	Q8N823	ZN611_HUMAN		7	2073	-			B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	1	1	hg19	c.1757G>T	CCDS12855.1	1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788816	0.31685	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.58	0.308	0.15815	1.58	0.308	0.15815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.58810	1.83	0.09310	N	1	P	0.37612	0.602	B	0.37239	0.244	T	0.16276	-1.0408	9	0.59425	D	0.04	.	4.7739	0.13169	0.2223:0.3359:0.4418:0.0	.	586	Q8N823	ZN611_HUMAN	I	586;586;517;586	ENSP00000437616:R586I;ENSP00000439211:R586I;ENSP00000443505:R517I;ENSP00000322427:R586I	ENSP00000322427:R586I	R	-	2	0	0	ZNF611	57900363	57900363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.834000	0.04391	-0.045000	0.13468	0.313000	0.20887	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	1	0	1		2	2	2	0		0	0	274		274	273	1	2.060000	-20.000000	1	0.170000	NM_030972			243	236		1117	1095	1		1	1		0	0	274	0		1	6.109109e-01	0	5	0	6	0	243	1117
ZNF600	162966	broad.mit.edu	37	19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	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)			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)		GTGAAGTCTACGATGGCATGT	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(709-711)cGt>cAt		zinc finger protein 600							174.0	166.0	169.0					19																	53270299		2203	4300	6503	SO:0001583	missense	162966	0	0					g.chr19:53270299C>T	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.710G>A	chr19.hg19:g.53270299C>T	ENSP00000344791:p.Arg237His	0						p.R237H	NM_198457.2	NP_940859	1	2	3	2.010022	Q6ZNG1	ZN600_HUMAN		3	977	-			Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	1	1	hg19	c.710G>A	CCDS12856.1	1	.	.	.	.	.	.	.	.	.	.	.	7.585	0.669634	0.14776	.	.	ENSG00000189190	ENST00000338230	T	0.07688	3.17	1.62	-3.23	0.05109	1.62	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	L	0.33339	1.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.41233	-0.9520	9	0.40728	T	0.16	.	0.5747	0.00701	0.1747:0.2268:0.1752:0.4233	.	237	Q6ZNG1	ZN600_HUMAN	H	237	ENSP00000344791:R237H	ENSP00000344791:R237H	R	-	2	0	0	ZNF600	57962111	57962111	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.889000	0.04144	-1.180000	0.02734	0.313000	0.20887	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	1	0	1		2	2	2	0		0	0	204		204	202	1	2.060000	-20.000000	1	0.170000	NM_198457			175	172		702	693	1		1	1		0	0	204	0		1	9.585630e-01	0	7	0	16	0	175	702
ZNF28	7576	broad.mit.edu	37	19	53304225	53304225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000457749.2	-	4	992	c.873G>A	c.(871-873)gcG>gcA	p.A291A	ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000438150.2_Silent_p.A238A|ZNF28_ENST00000360272.4_Silent_p.A238A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)			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)		CAGTATGAAGCGCCTTGTGAA	0.398																																						ENST00000457749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(871-873)gcG>gcA		zinc finger protein 28							151.0	142.0	145.0					19																	53304225		2203	4300	6503	SO:0001819	synonymous_variant	7576	2	121412	37				g.chr19:53304225C>T	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.873G>A	chr19.hg19:g.53304225C>T		0					ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000438150.2_Silent_p.A238A	p.A291A	NM_006969.3	NP_008900.3	1	2	3	2.010022	P17035	ZNF28_HUMAN		4	992	-			A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	1	1	hg19	c.873G>A	CCDS33093.2	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	1	0	0		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_006969			117	116		506	495	1		1	1		0	0	135	0		1	9.929508e-01	0	13	0	22	0	117	506
ZNF28	7576	broad.mit.edu	37	19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000457749.2	-	4	904	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R209H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)			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)		GTGAGATCTACGATGGCATGC	0.383																																						ENST00000457749.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(784-786)cGt>cAt		zinc finger protein 28							159.0	135.0	143.0					19																	53304313		2203	4300	6503	SO:0001583	missense	7576	3	121412	36				g.chr19:53304313C>T	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.785G>A	chr19.hg19:g.53304313C>T	ENSP00000397693:p.Arg262His	0					ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R209H	p.R262H	NM_006969.3	NP_008900.3	1	2	3	2.010022	P17035	ZNF28_HUMAN		4	904	-			A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	1	1	hg19	c.785G>A	CCDS33093.2	1	.	.	.	.	.	.	.	.	.	.	-	7.070	0.568038	0.13560	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.42;2.42;2.42;2.42;2.21	1.37	-2.74	0.05932	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.43554	1.36	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.27123	-1.0083	9	0.44086	T	0.13	.	5.9021	0.18972	0.0:0.2984:0.0:0.7016	.	262	P17035	ZNF28_HUMAN	H	209;262;209;209;209	ENSP00000412143:R209H;ENSP00000397693:R262H;ENSP00000353410:R209H;ENSP00000444965:R209H;ENSP00000375661:R209H	ENSP00000353410:R209H	R	-	2	0	0	ZNF28	57996125	57996125	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.473000	0.06615	-0.965000	0.03591	-0.708000	0.03648	CGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	1	0	0		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_006969			98	96		429	416	1		1	1		0	0	142	0		1	9.819192e-01	0	5	0	25	0	98	429
ZNF320	162967	broad.mit.edu	37	19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383																																						ENST00000595635.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(226-228)aGa>aAa		zinc finger protein 320							161.0	158.0	159.0					19																	53385152		2203	4300	6503	SO:0001583	missense	162967	0	0					g.chr19:53385152C>T	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.227G>A	chr19.hg19:g.53385152C>T	ENSP00000473091:p.Arg76Lys	0					ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron	p.R76K	NM_207333.2	NP_997216.2	1	2	3	2.010022	A2RRD8	ZN320_HUMAN		8	728	-			Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	1	1	hg19	c.227G>A	CCDS33095.1	1	.	.	.	.	.	.	.	.	.	.	-	8.622	0.891653	0.17613	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.18	1.18	0.20946	1.18	1.18	0.20946	Krueppel-associated box (1);	.	.	.	.	T	0.04815	0.0130	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.28385	0.089	T	0.37596	-0.9699	9	0.34782	T	0.22	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	76	A2RRD8	ZN320_HUMAN	K	76	ENSP00000375660:R76K	ENSP00000375660:R76K	R	-	2	0	0	ZNF320	58076964	58076964	0.000000	0.05858	0.009000	0.14445	0.041000	0.13682	-0.289000	0.08365	0.955000	0.37878	0.184000	0.17185	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	1	0	1		2	2	2	0		0	0	195		195	195	1	2.060000	-20.000000	1	0.170000	NM_207333			194	192		755	743	1		1	1		0	0	195	0		1	9.746757e-01	0	9	0	16	0	194	755
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A	rs375521090		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGCCTTTCGGTTCCTGACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0					ENST00000215574.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(226-228)cGg>cAg		cell division cycle 34		G	GLN/ARG	0,4406		0,0,2203	263.0	260.0	261.0		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense	997	6	121412	43				g.chr19:535886G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	chr19.hg19:g.535886G>A	ENSP00000215574:p.Arg76Gln	0						p.R76Q	NM_004359.1	NP_004350.1	1	2	3	2.010022	P49427	UB2R1_HUMAN		2	445	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A8K689	Missense_Mutation	SNP	ENST00000215574.4	1	1	hg19	c.227G>A	CCDS12030.1	1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	0	CDC34	486886	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	1	0	1		17	5	2	1		1	1	458		458	453	1	2.060000	-2.842424	1	0.170000	NM_004359			424	415		1748	1720	1		1	1		1	0	458	0		1	1	0	139	0	237	0	424	1748
ZNF160	90338	broad.mit.edu	37	19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000429604.1	-	7	2081	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000601421.1_Missense_Mutation_p.R520W	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	556					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)			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)		TGAATTCCCCGATGACTTCTA	0.413																																						ENST00000429604.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1666-1668)Cgg>Tgg		zinc finger protein 160							85.0	86.0	86.0					19																	53572121		2203	4300	6503	SO:0001583	missense	90338	2	121412	33				g.chr19:53572121G>A	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.1666C>T	chr19.hg19:g.53572121G>A	ENSP00000406201:p.Arg556Trp	0					ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000601421.1_Missense_Mutation_p.R520W|ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W	p.R556W	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	1	2	3	2.010022	Q9HCG1	ZN160_HUMAN		7	2081	-			Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	1	0	hg19	c.1666C>T	CCDS12859.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098400	0.37048	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07688	3.17;3.17	2.22	2.22	0.28083	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61036	1.89	0.33412	D	0.578734	P	0.35307	0.494	B	0.30401	0.115	T	0.17653	-1.0362	9	0.87932	D	0	.	11.4708	0.50268	0.0:0.0:1.0:0.0	.	556	Q9HCG1	ZN160_HUMAN	W	556	ENSP00000406201:R556W;ENSP00000409597:R556W	ENSP00000409597:R556W	R	-	1	2	2	ZNF160	58263933	58263933	0.000000	0.05858	0.031000	0.17742	0.021000	0.10359	-1.606000	0.02072	1.221000	0.43506	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.085034	1	0.170000	NM_033288			98	98		443	433	1		1	1		0	0	109	0		1	9.999132e-01	0	13	0	50	0	98	443
ZNF415	55786	broad.mit.edu	37	19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000500065.4	-	4	1616	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	476					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)			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)		CCGATGACTCGCAAGGTGTGA	0.423																																						ENST00000500065.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1282-1284)gCg>gTg		zinc finger protein 415							121.0	117.0	118.0					19																	53612015		2203	4300	6503	SO:0001583	missense	55786	6	121412	41				g.chr19:53612015G>A	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.1283C>T	chr19.hg19:g.53612015G>A	ENSP00000439435:p.Ala428Val	0					ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR	p.A428V	NM_001136038.2	NP_001129510.2	1	2	3	2.010022	Q09FC8	ZN415_HUMAN		4	1616	-			F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	1	1	hg19	c.1283C>T	CCDS54313.1	1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014304	0.07681	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	2.77	-1.02	0.10135	2.77	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.11201	0.11	0.09310	N	1	B;P;P;B;P;P	0.51147	0.339;0.719;0.565;0.339;0.51;0.942	B;B;B;B;B;B	0.32393	0.008;0.094;0.019;0.008;0.015;0.145	T	0.42344	-0.9457	9	0.30078	T	0.28	.	3.1834	0.06592	0.3435:0.0:0.4691:0.1874	.	428;476;476;428;415;440	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	428;428;476;440;476;415	ENSP00000243643:A428V;ENSP00000439435:A428V;ENSP00000396492:A476V;ENSP00000395055:A440V;ENSP00000388787:A476V;ENSP00000414601:A415V	ENSP00000243643:A428V	A	-	2	0	0	ZNF415	58303827	58303827	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.307000	0.08167	-0.224000	0.09928	-0.350000	0.07774	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	1	0	0		2	2	2	0		0	0	117		117	113	1	2.060000	-20.000000	1	0.170000	NM_018355			116	116		471	461	1		1	0		0	0	117	0		1	4.190941e-01	0	0	0	7	0	116	471
ZNF415	55786	broad.mit.edu	37	19	53612071	53612071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000500065.4	-	4	1560	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E396E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	457					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)			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)		TGTAAGGTTTCTCTCCAGTAT	0.408																																						ENST00000500065.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1225-1227)gaG>gaA		zinc finger protein 415							71.0	71.0	71.0					19																	53612071		2203	4300	6503	SO:0001819	synonymous_variant	55786	0	0					g.chr19:53612071C>T	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.1227G>A	chr19.hg19:g.53612071C>T		0					ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR	p.E409E	NM_001136038.2	NP_001129510.2	1	2	3	2.010022	Q09FC8	ZN415_HUMAN		4	1560	-			F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	1	1	hg19	c.1227G>A	CCDS54313.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_018355			68	68		266	265	0		1	0		0	0	62	0		1	2.742646e-01	0	0	0	5	0	68	266
ZNF347	84671	broad.mit.edu	37	19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000334197.7	-	5	1050	c.982C>T	c.(982-984)Cga>Tga	p.R328*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	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)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTCGACTAAAGACC	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000334197.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(982-984)Cga>Tga		zinc finger protein 347		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	128.0	131.0		985,985,982	-5.3	0.0	19	dbSNP_134	131	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	329/841,329/841,328/840	53645099	1,13005	2203	4300	6503	SO:0001587	stop_gained	84671	2	121412	42				g.chr19:53645099G>A	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.982C>T	chr19.hg19:g.53645099G>A	ENSP00000334146:p.Arg328*	0					ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.R329*	p.R328*	NM_032584.2	NP_115973.2	1	2	3	2.010022	Q96SE7	ZN347_HUMAN		5	1050	-			B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	0	1	hg19	c.982C>T	CCDS33097.1	1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997065	0.54147	2.27E-4	0.0	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	.	.	.	2.65	-5.29	0.02747	2.65	-5.29	0.02747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5002	0.04631	0.102:0.1464:0.3053:0.4463	.	.	.	.	X	328;329;2	.	ENSP00000334146:R328X	R	-	1	2	2	ZNF347	58336911	58336911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-1.398000	0.02066	-0.428000	0.05917	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	0		2	2	2	0		0	0	114		114	114	1	2.060000	-3.767156	1	0.170000	NM_032584			125	123		474	466	1		1	1		0	0	114	0		1	8.194902e-01	0	3	0	11	0	125	474
ZNF347	84671	broad.mit.edu	37	19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000334197.7	-	5	1023	c.955T>C	c.(955-957)Tgt>Cgt	p.C319R	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	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)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383																																					Melanoma(64;205 1597 17324 45721)	ENST00000334197.7	1.000000	0.950000	1	9.900000e-01	0.990000	0.997349	0.990000	1.000000																										0				23						c.(955-957)Tgt>Cgt		zinc finger protein 347							153.0	145.0	148.0					19																	53645126		2203	4300	6503	SO:0001583	missense	84671	0	0					g.chr19:53645126A>G	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.955T>C	chr19.hg19:g.53645126A>G	ENSP00000334146:p.Cys319Arg	0					ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.C320R	p.C319R	NM_032584.2	NP_115973.2	1	2	3	2.010022	Q96SE7	ZN347_HUMAN		5	1023	-			B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	1	1	hg19	c.955T>C	CCDS33097.1	1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696074	0.48202	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85258	-1.96;-1.96	2.85	2.85	0.33270	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94565	0.8249	H	0.98525	4.255	0.37637	D	0.921891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94998	0.8140	9	0.72032	D	0.01	.	9.1425	0.36912	1.0:0.0:0.0:0.0	.	320;319	G5E9N4;Q96SE7	.;ZN347_HUMAN	R	319;320	ENSP00000334146:C319R;ENSP00000405218:C320R	ENSP00000334146:C319R	C	-	1	0	0	ZNF347	58336938	58336938	0.623000	0.27094	0.005000	0.12908	0.003000	0.03518	4.785000	0.62418	1.326000	0.45319	0.533000	0.62120	TGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	0		2	2	2	0		0	0	141		141	139	1	2.060000	-19.899540	1	0.170000	NM_032584			68	66		601	587	1		1	0		0	0	141	0		1	3.139668e-01	0	0	0	11	0	68	601
ZNF347	84671	broad.mit.edu	37	19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000334197.7	-	3	150	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507																																					Melanoma(64;205 1597 17324 45721)	ENST00000334197.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(82-84)Gct>Act		zinc finger protein 347							109.0	112.0	111.0					19																	53652554		2203	4300	6503	SO:0001583	missense	84671	6	121412	42				g.chr19:53652554C>T	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.82G>A	chr19.hg19:g.53652554C>T	ENSP00000334146:p.Ala28Thr	0					ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.A28T	p.A28T	NM_032584.2	NP_115973.2	1	2	3	2.010022	Q96SE7	ZN347_HUMAN		3	150	-			B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	1	1	hg19	c.82G>A	CCDS33097.1	1	.	.	.	.	.	.	.	.	.	.	C	4.206	0.037002	0.08148	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02236	4.38;4.38	2.38	1.15	0.20763	2.38	1.15	0.20763	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	M	0.63428	1.95	0.09310	N	1	B;P	0.41420	0.366;0.749	B;B	0.27715	0.013;0.082	T	0.45498	-0.9257	9	0.36615	T	0.2	.	4.2304	0.10601	0.2576:0.4897:0.2527:0.0	.	28;28	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	28	ENSP00000334146:A28T;ENSP00000405218:A28T	ENSP00000334146:A28T	A	-	1	0	0	ZNF347	58344366	58344366	0.000000	0.05858	0.115000	0.21578	0.131000	0.20780	-0.229000	0.09098	1.337000	0.45525	0.591000	0.81541	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	1		2	2	2	1		1	0	144		144	144	1	2.060000	-3.385251	1	0.170000	NM_032584			128	127		539	526	1		1	0		1	0	144	0		1	5.388183e-01	0	1	0	8	0	128	539
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A	rs202219454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19464	0.001		0.0	False		,,,				2504	0.0					ENST00000600412.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.993117	0.990000	1.000000																										0				35						c.(1822-1824)Cga>Tga		zinc finger protein 665							40.0	41.0	41.0					19																	53667726		2160	4286	6446	SO:0001587	stop_gained	79788	4	121276	33				g.chr19:53667726G>A		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.1822C>T	chr19.hg19:g.53667726G>A	ENSP00000469154:p.Arg608*	0					ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*|CTD-2245F17.2_ENST00000600257.1_RNA	p.R608*			1	2	3	2.010022	Q9H7R5	ZN665_HUMAN		2	1937	-			A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	0	1	hg19	c.1822C>T		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.902202	0.92035	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.23	1.16	0.20824	2.23	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998943	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.6878	0.28550	0.1416:0.0:0.8584:0.0	.	.	.	.	X	673	.	ENSP00000379702:R673X	R	-	1	2	2	ZNF665	58359538	58359538	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	-0.524000	0.06222	0.262000	0.21774	0.543000	0.68304	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-2.843868	1	0.170000	NM_024733			18	18		134	130	1		1	0		0	0	23	0		9.999841e-01	0	0	1	0	0	0	18	134
ZNF665	79788	broad.mit.edu	37	19	53668078	53668078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.S555S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCAAGGTACGAATTGTGTC	0.388																																						ENST00000600412.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1468-1470)tcG>tcA		zinc finger protein 665							139.0	147.0	144.0					19																	53668078		2202	4299	6501	SO:0001819	synonymous_variant	79788	5	121406	40				g.chr19:53668078C>T		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.1470G>A	chr19.hg19:g.53668078C>T		0					ZNF665_ENST00000396424.3_Silent_p.S555S|CTD-2245F17.2_ENST00000600257.1_RNA	p.S490S			1	2	3	2.010022	Q9H7R5	ZN665_HUMAN		2	1585	-			A8K5T8	Silent	SNP	ENST00000600412.1	1	0	hg19	c.1470G>A		1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_024733			110	110		472	465	1		1	0		0	0	107	0		1	3.945584e-01	0	0	0	7	0	110	472
ZNF665	79788	broad.mit.edu	37	19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCTCCAGTATGAATTCTCTG	0.398																																						ENST00000600412.1	1.000000	0.310000	6.200000e-01	3.900000e-01	0.480000	0.527894	0.480000	0.470000																										0				35						c.(571-573)cAt>cGt		zinc finger protein 665							102.0	112.0	109.0					19																	53668976		2203	4300	6503	SO:0001583	missense	79788	0	0					g.chr19:53668976T>C		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.572A>G	chr19.hg19:g.53668976T>C	ENSP00000469154:p.His191Arg	0					ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R|CTD-2245F17.2_ENST00000600257.1_RNA	p.H191R			1	2	3	2.010022	Q9H7R5	ZN665_HUMAN		2	687	-			A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	1	1	hg19	c.572A>G		0	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860023	0.51482	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.44	0.146	0.14833	2.44	0.146	0.14833	.	.	.	.	.	D	0.82351	0.5018	M	0.92122	3.275	0.23095	N	0.998303	D	0.89917	1.0	D	0.91635	0.999	T	0.69176	-0.5214	9	0.87932	D	0	.	6.2248	0.20701	0.0:0.2501:0.0:0.7499	.	256	Q9H7R5-2	.	R	256	ENSP00000379702:H256R	ENSP00000379702:H256R	H	-	2	0	0	ZNF665	58360788	58360788	0.998000	0.40836	0.000000	0.03702	0.372000	0.29890	4.080000	0.57620	-0.172000	0.10779	0.443000	0.29094	CAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-19.999930	1	0.170000	NM_024733			26	26		626	619	0		1	0		0	0	127	0		9.999999e-01	1.764829e-03	0	0	0	2	0	26	626
ZNF665	79788	broad.mit.edu	37	19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CGTGTAGAACGCTTCTCCCAT	0.408																																						ENST00000600412.1	1.000000	0.780000	1	8.700000e-01	0.970000	0.949147	0.970000	1.000000																										0				35						c.(10-12)gCg>gTg		zinc finger protein 665							230.0	227.0	228.0					19																	53669537		1944	4157	6101	SO:0001583	missense	79788	1	120912	34				g.chr19:53669537G>A		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.11C>T	chr19.hg19:g.53669537G>A	ENSP00000469154:p.Ala4Val	0					ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V|CTD-2245F17.2_ENST00000600257.1_RNA	p.A4V			1	2	3	2.010022	Q9H7R5	ZN665_HUMAN		2	126	-			A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	1	1	hg19	c.11C>T		1	.	.	.	.	.	.	.	.	.	.	G	0.415	-0.911452	0.02434	.	.	ENSG00000197497	ENST00000396424	T	0.05081	3.5	1.85	0.809	0.18725	1.85	0.809	0.18725	.	.	.	.	.	T	0.01695	0.0054	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48525	-0.9028	9	0.11794	T	0.64	.	5.9136	0.19041	0.8463:0.0:0.1537:0.0	.	69	Q9H7R5-2	.	V	69	ENSP00000379702:A69V	ENSP00000379702:A69V	A	-	2	0	0	ZNF665	58361349	58361349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	0.189000	0.20188	-0.436000	0.05848	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1		2	2	2	0		0	0	246		246	244	1	2.060000	-19.780840	1	0.170000	NM_024733			95	95		1073	1062	0		1			0	0	246	0		1	0	0	0	0	0	0	95	1073
ZNF677	342926	broad.mit.edu	37	19	53741428	53741428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000598513.1	-	5	702	c.552G>A	c.(550-552)gtG>gtA	p.V184V	ZNF677_ENST00000333952.4_Silent_p.V184V|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CAAAACACTTCACGTATTTGT	0.348																																						ENST00000598513.1	1.000000	0.190000	5.600000e-01	2.800000e-01	0.390000	0.444688	0.390000	0.360000																										0				36						c.(550-552)gtG>gtA		zinc finger protein 677							71.0	68.0	69.0					19																	53741428		2202	4300	6502	SO:0001819	synonymous_variant	342926	0	0					g.chr19:53741428C>T	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.552G>A	chr19.hg19:g.53741428C>T		0					ZNF677_ENST00000333952.4_Silent_p.V184V|CTD-2245F17.6_ENST00000596041.1_RNA	p.V184V	NM_182609.2	NP_872415.1	1	2	3	2.010022	Q86XU0	ZN677_HUMAN		5	702	-				Silent	SNP	ENST00000598513.1	1	1	hg19	c.552G>A	CCDS12861.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	0	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-10.600200	1	0.170000	NM_182609			10	10		313	306	0		1			0	0	60	0		9.966451e-01	0	0	0	0	0	0	10	313
ZNF677	342926	broad.mit.edu	37	19	53747046	53747046	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000598513.1	-	4	270	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000333952.4_Silent_p.N40N|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	40	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)			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)		GGTTCCTGTAGTTCTCCAACA	0.488																																						ENST00000598513.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(118-120)aaC>aaT		zinc finger protein 677							125.0	114.0	118.0					19																	53747046		2203	4300	6503	SO:0001819	synonymous_variant	342926	0	0					g.chr19:53747046G>A	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.120C>T	chr19.hg19:g.53747046G>A		0					ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000333952.4_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|CTD-2245F17.6_ENST00000596041.1_RNA	p.N40N	NM_182609.2	NP_872415.1	1	2	3	2.010022	Q86XU0	ZN677_HUMAN		4	270	-				Silent	SNP	ENST00000598513.1	1	1	hg19	c.120C>T	CCDS12861.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	1	0	1		16	2	2	0		0	1	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_182609			91	91		387	381	0		1	0		0	0	109	0		1	7.370674e-01	0	0	0	13	0	91	387
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.T190S(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)		CCAGGTGATCACCATCAACCC	0.488																																						ENST00000341702.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T190S(1)	lung(1)	31						c.(568-570)Acc>Gcc		vomeronasal 1 receptor 2							45.0	45.0	45.0					19																	53762196		2203	4300	6503	SO:0001583	missense	317701	0	0					g.chr19:53762196A>G	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.568A>G	chr19.hg19:g.53762196A>G	ENSP00000351244:p.Thr190Ala	0						p.T190A	NM_173856.2	NP_776255.2	1	2	3	2.010022	Q8NFZ6	VN1R2_HUMAN		1	652	+			A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	1	1	hg19	c.568A>G	CCDS12862.1	1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891570	0.17613	.	.	ENSG00000196131	ENST00000341702	T	0.24723	1.84	2.94	1.92	0.25849	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46870	0.1415	M	0.89478	3.035	0.09310	N	1	D	0.55605	0.972	P	0.60609	0.877	T	0.34179	-0.9839	9	0.72032	D	0.01	.	3.328	0.07074	0.6274:0.2408:0.1318:0.0	.	190	Q8NFZ6	VN1R2_HUMAN	A	190	ENSP00000351244:T190A	ENSP00000351244:T190A	T	+	1	0	0	VN1R2	58454008	58454008	0.001000	0.12720	0.022000	0.16811	0.022000	0.10575	0.059000	0.14322	0.560000	0.29169	0.486000	0.48141	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_173856			47	47		214	209	1		1			0	0	46	0		1	0	0	0	0	0	0	47	214
VN1R2	317701	broad.mit.edu	37	19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A	rs377201936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	342					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			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)		AGCTCTCTTCGATAATTCCAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21784	0.0		0.0	False		,,,				2504	0.001					ENST00000341702.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1024-1026)Gat>Aat		vomeronasal 1 receptor 2		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	256.0	229.0	238.0		1024	-1.0	0.0	19		238	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	342/396	53762652	1,13005	2203	4300	6503	SO:0001583	missense	317701	6	121412	43				g.chr19:53762652G>A	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.1024G>A	chr19.hg19:g.53762652G>A	ENSP00000351244:p.Asp342Asn	0					VN1R2_ENST00000598458.1_Intron	p.D342N	NM_173856.2	NP_776255.2	1	2	3	2.010022	Q8NFZ6	VN1R2_HUMAN		1	1108	+			A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	1	1	hg19	c.1024G>A	CCDS12862.1	1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933902	0.18206	2.27E-4	0.0	ENSG00000196131	ENST00000341702	T	0.37058	1.22	2.79	-0.988	0.10245	2.79	-0.988	0.10245	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14313	0.0346	N	0.12637	0.245	0.09310	N	1	P	0.37663	0.604	B	0.34452	0.183	T	0.18147	-1.0346	9	0.16420	T	0.52	.	3.4714	0.07569	0.1348:0.0:0.4225:0.4427	.	342	Q8NFZ6	VN1R2_HUMAN	N	342	ENSP00000351244:D342N	ENSP00000351244:D342N	D	+	1	0	0	VN1R2	58454464	58454464	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.130000	0.01312	-0.080000	0.12685	0.590000	0.80494	GAT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	1	0	1		2	2	2	0		0	0	205		205	205	1	2.060000	-20.000000	1	0.170000	NM_173856			208	203		868	854	1		1			0	0	205	0		1	0	0	0	0	0	0	208	868
BIRC8	112401	broad.mit.edu	37	19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	164					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTCAATTCATTTTCTGTA	0.418																																						ENST00000426466.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(490-492)Gaa>Taa		baculoviral IAP repeat containing 8							91.0	91.0	91.0					19																	53793138		2203	4300	6503	SO:0001587	stop_gained	112401	0	0					g.chr19:53793138C>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.490G>T	chr19.hg19:g.53793138C>A	ENSP00000412957:p.Glu164*	0						p.E164*	NM_033341.4	NP_203127.3	1	2	3	2.010022	Q96P09	BIRC8_HUMAN		1	1737	-			Q6IPY1|Q96RW5	Nonsense_Mutation	SNP	ENST00000426466.1	0	1	hg19	c.490G>T	CCDS12863.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.294075	0.99377	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5152	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	164	.	ENSP00000412957:E164X	E	-	1	0	0	BIRC8	58484950	58484950	0.163000	0.22920	0.023000	0.16930	0.013000	0.08279	1.173000	0.31920	0.578000	0.29487	0.420000	0.28162	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.190601	1	0.170000	NM_033341			87	85		405	397	0		1			0	0	85	0		1	0	0	0	0	0	0	87	405
ZNF765	91661	broad.mit.edu	37	19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	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)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAATCAAACCTTGAAAGACA	0.408																																						ENST00000396408.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1525-1527)Ctt>Att		zinc finger protein 765							34.0	36.0	35.0					19																	53912333		2167	4284	6451	SO:0001583	missense	91661	0	0					g.chr19:53912333C>A	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.1525C>A	chr19.hg19:g.53912333C>A	ENSP00000379689:p.Leu509Ile	0					ZNF765_ENST00000594030.1_Intron	p.L509I	NM_001040185.1	NP_001035275.1	1	2	3	2.010022	Q7L2R6	ZN765_HUMAN		4	1642	+			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	1	1	hg19	c.1525C>A	CCDS46171.1	1	.	.	.	.	.	.	.	.	.	.	-	11.43	1.636833	0.29068	.	.	ENSG00000196417	ENST00000396408	T	0.41065	1.01	1.27	-0.14	0.13456	1.27	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65281	0.2676	M	0.92880	3.355	0.09310	N	1	B	0.33940	0.433	P	0.54210	0.745	T	0.62558	-0.6829	8	.	.	.	.	6.239	0.20778	0.0:0.6819:0.3181:0.0	.	509	Q7L2R6	ZN765_HUMAN	I	509	ENSP00000379689:L509I	.	L	+	1	0	0	ZNF765	58604145	58604145	0.007000	0.16637	0.000000	0.03702	0.031000	0.12232	0.205000	0.17356	-0.241000	0.09681	0.297000	0.19635	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	0	0	1		14	2	2	1		1	1	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_138372			47	46		193	189	1		1	0		1	0	60	0		9.999985e-01	6.670442e-01	0	1	0	10	0	47	193
ZNF761	388561	broad.mit.edu	37	19	53959326	53959326	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	ENST00000454407.1	+	0	2018							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)			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)		GAGAAAGCTTACAAGTGTAAT	0.438																																						ENST00000454407.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30								zinc finger protein 761							104.0	100.0	102.0					19																	53959326		2203	4300	6503			388561	0	0					g.chr19:53959326A>G	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		chr19.hg19:g.53959326A>G		0									1	2	3	2.010022	Q86XN6	ZN761_HUMAN		0	2018	+			Q6ZNB9	RNA	SNP	ENST00000454407.1	1	1	hg19			1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		16	3	2	1		1	1	133		133	131	1	2.060000	-20.000000	1	0.170000	NM_001008401			116	112		474	466	0		1	1		1	0	133	0		1	9.563220e-01	0	5	0	26	0	116	474
ZNF813	126017	broad.mit.edu	37	19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATATTGGAGAGAAACGTTA	0.413																																						ENST00000396403.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(1390-1392)Gag>Aag		zinc finger protein 813							65.0	69.0	68.0					19																	53994876		2196	4294	6490	SO:0001583	missense	126017	0	0					g.chr19:53994876G>A	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.1390G>A	chr19.hg19:g.53994876G>A	ENSP00000379684:p.Glu464Lys	0					ZNF813_ENST00000396421.4_Intron	p.E464K	NM_001004301.3	NP_001004301.2	1	2	3	2.010022	Q6ZN06	ZN813_HUMAN		4	1518	+				Missense_Mutation	SNP	ENST00000396403.4	1	1	hg19	c.1390G>A	CCDS46172.1	1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099648	0.56183	.	.	ENSG00000198346	ENST00000396403	T	0.24350	1.86	1.32	-9.08E-4	0.14036	1.32	-9.08E-4	0.14036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.47716	1.5	0.80722	D	1	D	0.54772	0.968	P	0.61592	0.891	T	0.18967	-1.0320	9	0.72032	D	0.01	.	6.6592	0.23004	0.1881:0.0:0.8119:0.0	.	464	Q6ZN06	ZN813_HUMAN	K	464	ENSP00000379684:E464K	ENSP00000379684:E464K	E	+	1	0	0	ZNF813	58686688	58686688	0.987000	0.35691	0.201000	0.23476	0.035000	0.12851	3.279000	0.51670	0.461000	0.27071	0.197000	0.17608	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_001004301			55	55		283	279	1		1	0		0	0	73	0		1	2.591120e-01	0	1	0	5	0	55	283
ZNF331	55422	broad.mit.edu	37	19	54074947	54074947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	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)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTACTGGGACGTGATGCTGG	0.522			T	?	follicular thyroid adenoma																																	ENST00000253144.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19q13.3-q13.4	19q13.3-q13.4	55422	T	zinc finger protein 331				E	E	?		follicular thyroid adenoma		0				10						c.(97-99)gaC>gaT		zinc finger protein 331							240.0	227.0	231.0					19																	54074947		2203	4300	6503	SO:0001819	synonymous_variant	55422	4	121412	40				g.chr19:54074947C>T	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.99C>T	chr19.hg19:g.54074947C>T		0					ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D	p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	1	2	3	2.010022	Q9NQX6	ZN331_HUMAN		6	1432	+			Q96GJ4	Silent	SNP	ENST00000253144.9	1	1	hg19	c.99C>T	CCDS33102.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	1	0	1		2	2	2	0		0	0	223		223	221	1	2.060000	-20.000000	1	0.170000	NM_018555			204	200		920	907	1		1	0		0	0	223	0		1	9.997782e-01	0	0	0	56	0	204	920
ZNF331	55422	broad.mit.edu	37	19	54080543	54080543	+	Silent	SNP	C	C	T	rs569571621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAAGACTACGAATGCAAAG	0.463			T	?	follicular thyroid adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.0					ENST00000253144.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19q13.3-q13.4	19q13.3-q13.4	55422	T	zinc finger protein 331				E	E	?		follicular thyroid adenoma		0				10						c.(727-729)taC>taT		zinc finger protein 331							62.0	67.0	65.0					19																	54080543		2203	4300	6503	SO:0001819	synonymous_variant	55422	2	121412	32				g.chr19:54080543C>T	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.729C>T	chr19.hg19:g.54080543C>T		0					ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron	p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	1	2	3	2.010022	Q9NQX6	ZN331_HUMAN		7	2062	+			Q96GJ4	Silent	SNP	ENST00000253144.9	1	1	hg19	c.729C>T	CCDS33102.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_018555			99	97		354	347	1		1	1		0	0	91	0		1	9.998899e-01	0	10	0	40	0	99	354
CDC34	997	broad.mit.edu	37	19	541501	541501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	220	Asp/Glu-rich (acidic).|SCF-binding.				cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGAGGAGGCCGACAGCTGCT	0.622																																						ENST00000215574.4	1.000000	0.250000	6.600000e-01	3.500000e-01	0.470000	0.518770	0.470000	0.440000																										0				2						c.(658-660)gcC>gcT		cell division cycle 34							58.0	50.0	53.0					19																	541501		2203	4300	6503	SO:0001819	synonymous_variant	997	1	121338	33				g.chr19:541501C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.660C>T	chr19.hg19:g.541501C>T		0					GZMM_ENST00000264553.3_5'Flank	p.A220A	NM_004359.1	NP_004350.1	1	2	3	2.010022	P49427	UB2R1_HUMAN		5	878	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A8K689	Silent	SNP	ENST00000215574.4	1	1	hg19	c.660C>T	CCDS12030.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.919336	1	0.170000	NM_004359			12	12		305	301	0		1	1		0	0	46	0		9.990939e-01	9.978559e-01	0	17	0	253	0	12	305
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433																																						ENST00000376650.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				12						c.(151-153)tcG>tcA		divergent-paired related homeobox							108.0	96.0	100.0					19																	54137909		2203	4300	6503	SO:0001819	synonymous_variant	503834	3	121412	36				g.chr19:54137909G>A		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.153G>A	chr19.hg19:g.54137909G>A		0						p.S51S	NM_001012728.1	NP_001012746.1	1	2	3	2.010022	A6NFQ7	DPRX_HUMAN		2	204	+	Ovarian(34;0.19)			Silent	SNP	ENST00000376650.1	1	1	hg19	c.153G>A	CCDS33103.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-2.966897	1	0.170000	NM_001012728			57	54		355	346	1		1			0	0	106	0		1	0	0	0	0	0	0	57	355
NLRP12	91662	broad.mit.edu	37	19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	765					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)			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)		GCTATGAGAGCTGCAGAGAGG	0.547																																						ENST00000324134.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2293-2295)Gct>Act		NLR family, pyrin domain containing 12							109.0	107.0	108.0					19																	54308655		2203	4300	6503	SO:0001583	missense	91662	0	0					g.chr19:54308655C>T	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.2293G>A	chr19.hg19:g.54308655C>T	ENSP00000319377:p.Ala765Thr	0					NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T	p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	1	2	3	2.010022	P59046	NAL12_HUMAN		5	2461	-	Ovarian(34;0.19)		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	1	1	hg19	c.2293G>A	CCDS12864.1	1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900593	0.52227	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	3.32	3.32	0.38043	3.32	3.32	0.38043	.	.	.	.	.	T	0.64227	0.2579	L	0.48986	1.54	0.19575	N	0.999967	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.939;0.997;0.998;0.999	T	0.50516	-0.8819	9	0.44086	T	0.13	.	10.3841	0.44129	0.0:1.0:0.0:0.0	.	766;48;765;765;765	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	T	765;765;765;765;48;765;766;766;766	ENSP00000319377:A765T;ENSP00000438030:A765T;ENSP00000340473:A765T;ENSP00000346231:A765T;ENSP00000375655:A765T;ENSP00000375653:A766T;ENSP00000375652:A766T	ENSP00000319377:A765T	A	-	1	0	0	NLRP12	59000467	59000467	0.018000	0.18449	0.017000	0.16124	0.245000	0.25701	2.587000	0.46128	1.893000	0.54813	0.289000	0.19496	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_144687			134	133		626	610	1		1	0		0	0	117	0		1	3.149595e-02	0	0	0	2	0	134	626
NLRP12	91662	broad.mit.edu	37	19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					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)			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)		AAACAGGAAGCGGCTGGTGAG	0.612																																						ENST00000324134.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1681-1683)cGc>cAc		NLR family, pyrin domain containing 12							85.0	80.0	82.0					19																	54313231		2203	4300	6503	SO:0001583	missense	91662	0	0					g.chr19:54313231C>T	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.1682G>A	chr19.hg19:g.54313231C>T	ENSP00000319377:p.Arg561His	0					NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H	p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	1	2	3	2.010022	P59046	NAL12_HUMAN		3	1850	-	Ovarian(34;0.19)		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	1	1	hg19	c.1682G>A	CCDS12864.1	1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765011	0.15914	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.05	1.75	0.24633	4.05	1.75	0.24633	.	0.421101	0.17587	N	0.168891	D	0.83727	0.5317	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.25904	0.066;0.066;0.066;0.137	B;B;B;B	0.20184	0.008;0.008;0.008;0.028	T	0.71137	-0.4680	10	0.10636	T	0.68	.	7.3897	0.26903	0.0:0.7809:0.0:0.2191	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	561	ENSP00000319377:R561H;ENSP00000438030:R561H;ENSP00000340473:R561H;ENSP00000346231:R561H;ENSP00000375655:R561H;ENSP00000375653:R561H;ENSP00000375652:R561H	ENSP00000319377:R561H	R	-	2	0	0	NLRP12	59005043	59005043	0.031000	0.19500	0.454000	0.27019	0.181000	0.23173	0.717000	0.25851	0.270000	0.21984	0.485000	0.47835	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_144687			98	96		525	514	1		1	0		0	0	127	0		1	6.775853e-02	0	0	0	3	0	98	525
NLRP12	91662	broad.mit.edu	37	19	54313950	54313950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000535162.1_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	321	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)			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)		TAAGAAGCAGCTCCGTGGGCC	0.567																																						ENST00000324134.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(961-963)gaG>gaA		NLR family, pyrin domain containing 12							47.0	50.0	49.0					19																	54313950		2203	4300	6503	SO:0001819	synonymous_variant	91662	0	0					g.chr19:54313950C>T	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.963G>A	chr19.hg19:g.54313950C>T		0					NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E	p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	1	2	3	2.010022	P59046	NAL12_HUMAN		3	1131	-	Ovarian(34;0.19)		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	1	1	hg19	c.963G>A	CCDS12864.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_144687			93	91		308	306	1		1			0	0	79	0		1	0	0	0	0	0	0	93	308
MYADM	91663	broad.mit.edu	37	19	54377221	54377221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000391771.1_Silent_p.I146I|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Silent_p.I146I|MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	146	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667																																						ENST00000391769.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(436-438)atC>atT		myeloid-associated differentiation marker							62.0	62.0	62.0					19																	54377221		2203	4300	6503	SO:0001819	synonymous_variant	91663	2	121408	34				g.chr19:54377221C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.438C>T	chr19.hg19:g.54377221C>T		0					MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|AC008440.5_ENST00000413496.2_RNA	p.I146I	NM_001020821.1	NP_001018657.1	1	2	3	2.010022	Q96S97	MYADM_HUMAN		3	718	+	Ovarian(34;0.19)		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	1	1	hg19	c.438C>T	CCDS12866.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	1	0	0		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_138373			87	83		432	424	1		1	1		0	0	104	0		1	1	0	44	0	461	0	87	432
MYADM	91663	broad.mit.edu	37	19	54377236	54377236	+	Silent	SNP	C	C	T	rs376434685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000391771.1_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652																																						ENST00000391769.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(451-453)taC>taT		myeloid-associated differentiation marker		C	,,,,	0,4406		0,0,2203	54.0	55.0	54.0		453,453,453,453,453	-5.3	0.1	19		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYADM	NM_001020818.1,NM_001020819.1,NM_001020820.1,NM_001020821.1,NM_138373.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	151/323,151/323,151/323,151/323,151/323	54377236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91663	1	121404	34				g.chr19:54377236C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.453C>T	chr19.hg19:g.54377236C>T		0					MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA	p.Y151Y	NM_001020821.1	NP_001018657.1	1	2	3	2.010022	Q96S97	MYADM_HUMAN		3	733	+	Ovarian(34;0.19)		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	1	1	hg19	c.453C>T	CCDS12866.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	1	0	0		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_138373			80	76		417	410	1		1	1		0	0	107	0		1	1	0	49	0	465	0	80	417
MYADM	91663	broad.mit.edu	37	19	54377422	54377422	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000391771.1_Silent_p.C213C|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Silent_p.C213C|MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	213	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627																																						ENST00000391769.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(637-639)tgC>tgT		myeloid-associated differentiation marker							150.0	129.0	136.0					19																	54377422		2203	4300	6503	SO:0001819	synonymous_variant	91663	0	0					g.chr19:54377422C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.639C>T	chr19.hg19:g.54377422C>T		0					MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|AC008440.5_ENST00000413496.2_RNA	p.C213C	NM_001020821.1	NP_001018657.1	1	2	3	2.010022	Q96S97	MYADM_HUMAN		3	919	+	Ovarian(34;0.19)		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	1	1	hg19	c.639C>T	CCDS12866.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	0	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_138373			165	164		642	634	1		1	1		0	0	140	0		1	1	0	39	0	532	0	165	642
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			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)	GCTGGCCGAGCGCAGGGGCTC	0.577																																						ENST00000263431.3	1.000000	0.220000	6.200000e-01	3.200000e-01	0.440000	0.487615	0.440000	0.400000																										0				10						c.(1108-1110)Cgc>Tgc		protein kinase C, gamma	Tamoxifen(DB00675)						59.0	54.0	56.0					19																	54401709		2203	4300	6503	SO:0001583	missense	5582	0	0					g.chr19:54401709C>T	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.1108C>T	chr19.hg19:g.54401709C>T	ENSP00000263431:p.Arg370Cys	0					PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	p.R370C	NM_002739.3	NP_002730.1	1	2	3	2.010022	P05129	KPCG_HUMAN		11	1390	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	1	1	hg19	c.1108C>T	CCDS12867.1	0	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224028	0.79576	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66995	-0.24;-0.24;-0.24	5.07	5.07	0.68467	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68696	0.3029	L	0.31476	0.935	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61800	0.894;0.819;0.887	T	0.71523	-0.4567	9	0.87932	D	0	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	370;370;257	ENSP00000443493:R370C;ENSP00000263431:R370C;ENSP00000438090:R257C	ENSP00000263431:R370C	R	+	1	0	0	PRKCG	59093521	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-11.503970	1	0.170000	NM_002739			11	11		304	300	0		1			0	0	82	0		9.982919e-01	0	0	0	0	0	0	11	304
PRKCG	5582	broad.mit.edu	37	19	54403724	54403724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			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)	ACAATCAGGGCATCATCTACA	0.552																																						ENST00000263431.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				10						c.(1423-1425)ggC>ggT		protein kinase C, gamma	Tamoxifen(DB00675)						57.0	59.0	58.0					19																	54403724		2203	4300	6503	SO:0001819	synonymous_variant	5582	1	121412	25				g.chr19:54403724C>T	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.1425C>T	chr19.hg19:g.54403724C>T		0					PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	p.G475G	NM_002739.3	NP_002730.1	1	2	3	2.010022	P05129	KPCG_HUMAN		13	1707	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		B7Z8Q0	Silent	SNP	ENST00000263431.3	1	1	hg19	c.1425C>T	CCDS12867.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_002739			39	39		231	227	1		1			0	0	45	0		1	0	0	0	0	0	0	39	231
VSTM1	284415	broad.mit.edu	37	19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557																																						ENST00000338372.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(679-681)Gga>Tga		V-set and transmembrane domain containing 1							62.0	57.0	58.0					19																	54544247		2203	4300	6503	SO:0001587	stop_gained	284415	0	0					g.chr19:54544247C>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.679G>T	chr19.hg19:g.54544247C>A	ENSP00000343366:p.Gly227*	0					VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*	p.G227*	NM_198481.3	NP_940883.2	1	2	3	2.010022	Q6UX27	VSTM1_HUMAN		9	854	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Nonsense_Mutation	SNP	ENST00000338372.2	0	1	hg19	c.679G>T	CCDS12872.1	1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006827	0.35415	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	.	.	.	2.63	0.503	0.16940	2.63	0.503	0.16940	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7657	0.13130	0.0:0.6976:0.0:0.3024	.	.	.	.	X	117;227;196;139	.	ENSP00000343366:G227X	G	-	1	0	0	VSTM1	59236059	59236059	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.748000	0.26305	0.222000	0.20900	-0.259000	0.10710	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_198481			34	33		156	152	1		1	0		0	0	36	0		1	8.903771e-02	0	0	0	3	0	34	156
ZNRF4	148066	broad.mit.edu	37	19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T	rs201511283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	66						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A66V(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)		ACACAGACAGCGAAGCGGGTG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		15669	0.001		0.0	False		,,,				2504	0.0					ENST00000222033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A66V(1)	large_intestine(1)	16						c.(196-198)gCg>gTg		zinc and ring finger 4		C	VAL/ALA	0,4120		0,0,2060	42.0	51.0	48.0		197	-4.4	0.0	19		48	1,8357		0,1,4178	no	missense	ZNRF4	NM_181710.3	64	0,1,6238	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	66/430	5455699	1,12477	2060	4179	6239	SO:0001583	missense	148066	3	120946	31				g.chr19:5455699C>T	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.197C>T	chr19.hg19:g.5455699C>T	ENSP00000222033:p.Ala66Val	0						p.A66V	NM_181710.3	NP_859061.3	1	2	3	2.010022	Q8WWF5	ZNRF4_HUMAN		1	274	+			A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	1	1	hg19	c.197C>T	CCDS42475.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.569	1.120575	0.20877	0.0	1.2E-4	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.22	-4.37	0.03633	3.22	-4.37	0.03633	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.35240	0.198	T	0.46005	-0.9222	9	0.54805	T	0.06	.	10.7534	0.46221	0.3551:0.6449:0.0:0.0	.	66	Q8WWF5	ZNRF4_HUMAN	V	66	ENSP00000222033:A66V	ENSP00000222033:A66V	A	+	2	0	0	ZNRF4	5406699	5406699	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	-0.968000	0.03817	-0.629000	0.05575	0.313000	0.20887	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.858010	1	0.170000	NM_181710			96	95		362	355	1		1			0	0	77	0		1	0	0	0	0	0	0	96	362
ZNRF4	148066	broad.mit.edu	37	19	5456539	5456539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5456539G>A	ENST00000222033.4	+	1	1114	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	346						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GCCCCCCGGCGCTCCTGCCCC	0.622																																						ENST00000222033.4	1.000000	0.230000	4.900000e-01	2.900000e-01	0.370000	0.426987	0.370000	0.360000																										0				16						c.(1036-1038)cGc>cAc		zinc and ring finger 4							88.0	101.0	97.0					19																	5456539		2017	4158	6175	SO:0001583	missense	148066	1	120910	38				g.chr19:5456539G>A	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.1037G>A	chr19.hg19:g.5456539G>A	ENSP00000222033:p.Arg346His	0						p.R346H	NM_181710.3	NP_859061.3	1	2	3	2.010022	Q8WWF5	ZNRF4_HUMAN		1	1114	+			A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	1	1	hg19	c.1037G>A	CCDS42475.1	0	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497890	0.26861	.	.	ENSG00000105428	ENST00000222033	T	0.44482	0.92	4.47	2.17	0.27698	4.47	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.131872	0.46442	U	0.000287	T	0.24122	0.0584	N	0.25890	0.77	0.09310	N	1	B	0.28400	0.21	B	0.26614	0.071	T	0.14282	-1.0478	10	0.59425	D	0.04	-18.9158	3.2793	0.06909	0.2195:0.0:0.5723:0.2082	.	346	Q8WWF5	ZNRF4_HUMAN	H	346	ENSP00000222033:R346H	ENSP00000222033:R346H	R	+	2	0	0	ZNRF4	5407539	5407539	0.142000	0.22610	0.128000	0.21923	0.725000	0.41563	1.135000	0.31454	0.871000	0.35750	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	0	1		2	2	2	0		0	0	140		140	137	1	2.060000	-3.460792	1	0.170000	NM_181710			20	21		635	626	0		1			0	0	140	0		9.999946e-01	0	0	0	0	0	0	20	635
VSTM1	284415	broad.mit.edu	37	19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	203					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493																																						ENST00000338372.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(607-609)gGa>gAa		V-set and transmembrane domain containing 1							40.0	37.0	38.0					19																	54544318		2203	4300	6503	SO:0001583	missense	284415	0	0					g.chr19:54544318C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.608G>A	chr19.hg19:g.54544318C>T	ENSP00000343366:p.Gly203Glu	0					VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E	p.G203E	NM_198481.3	NP_940883.2	1	2	3	2.010022	Q6UX27	VSTM1_HUMAN		9	783	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	1	1	hg19	c.608G>A	CCDS12872.1	1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302002	0.10678	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49720	1.4;7.0;5.9;0.77	2.67	-2.75	0.05914	2.67	-2.75	0.05914	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.22080	0.023;0.064	B;B	0.17433	0.01;0.018	T	0.32348	-0.9910	9	0.02654	T	1	.	6.9053	0.24305	0.0:0.3799:0.0:0.6201	.	172;203	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	93;203;172;115	ENSP00000409412:G93E;ENSP00000343366:G203E;ENSP00000365813:G172E;ENSP00000444153:G115E	ENSP00000343366:G203E	G	-	2	0	0	VSTM1	59236130	59236130	0.001000	0.12720	0.001000	0.08648	0.449000	0.32228	-1.834000	0.01693	-0.510000	0.06523	0.585000	0.79938	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_198481			24	24		75	73	1		1	0		0	0	21	0		9.999999e-01	6.309454e-02	0	0	0	2	0	24	75
OSCAR	126014	broad.mit.edu	37	19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	56	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587																																						ENST00000284648.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(166-168)cCc>cTc		osteoclast associated, immunoglobulin-like receptor							73.0	76.0	75.0					19																	54600355		2203	4300	6503	SO:0001583	missense	126014	2	121412	34				g.chr19:54600355G>A	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.167C>T	chr19.hg19:g.54600355G>A	ENSP00000365808:p.Pro56Leu	0					OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L	p.P56L			1	2	3	2.010022	Q8IYS5	OSCAR_HUMAN		4	364	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	1	1	hg19	c.167C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887743	0.52014	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	4.05	2.99	0.34606	4.05	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.372474	0.19477	U	0.113310	T	0.29288	0.0729	M	0.73372	2.23	0.20489	N	0.999894	D;P;D;D;D;D	0.71674	0.998;0.889;0.982;0.99;0.993;0.976	D;P;P;P;P;P	0.66716	0.946;0.805;0.864;0.859;0.817;0.795	T	0.02075	-1.1218	10	0.52906	T	0.07	.	7.0457	0.25044	0.1264:0.0:0.8736:0.0	.	56;45;45;60;56;60	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	45;60;60;56;45;56	ENSP00000375641:P45L;ENSP00000348927:P60L;ENSP00000352671:P60L;ENSP00000351145:P56L;ENSP00000304523:P45L;ENSP00000365808:P56L	ENSP00000365808:P56L	P	-	2	0	0	OSCAR	59292167	59292167	0.440000	0.25618	0.560000	0.28344	0.566000	0.35808	2.588000	0.46137	2.001000	0.58596	0.585000	0.79938	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_133169			100	98		544	537	1		1	0		0	0	123	0		1	9.998358e-01	0	0	0	70	0	100	544
CNOT3	4849	broad.mit.edu	37	19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557																																						ENST00000406403.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(268-270)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							82.0	83.0	83.0					19																	54647751		2203	4300	6503	SO:0001583	missense	4849	0	0					g.chr19:54647751C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.268C>T	chr19.hg19:g.54647751C>T	ENSP00000383954:p.Arg90Trp	0					CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR	p.R90W			1	2	3	2.010022	O75175	CNOT3_HUMAN		5	1871	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	1	1	hg19	c.268C>T	CCDS12880.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736368	0.69189	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.53423	0.62;0.62	5.28	2.95	0.34219	5.28	2.95	0.34219	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73398	-0.3995	10	0.87932	D	0	-32.5338	11.5923	0.50953	0.5082:0.4918:0.0:0.0	.	90;90;14	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	90	ENSP00000221232:R90W;ENSP00000383954:R90W	ENSP00000221232:R90W	R	+	1	2	2	CNOT3	59339563	59339563	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.363000	0.44178	1.327000	0.45338	0.655000	0.94253	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_014516			77	74		443	436	1		1	1		0	0	117	0		1	9.999999e-01	0	34	0	104	0	77	443
CNOT3	4849	broad.mit.edu	37	19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	177					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGAAGCACCGCTACCACGTG	0.607																																						ENST00000406403.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(529-531)cGc>cAc		CCR4-NOT transcription complex, subunit 3							143.0	94.0	111.0					19																	54649380		2203	4300	6503	SO:0001583	missense	4849	0	0					g.chr19:54649380G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.530G>A	chr19.hg19:g.54649380G>A	ENSP00000383954:p.Arg177His	0					CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR	p.R177H			1	2	3	2.010022	O75175	CNOT3_HUMAN		7	2133	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	1	1	hg19	c.530G>A	CCDS12880.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011912|5.011912	0.93346|0.93346	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48201	.|0.82;0.82	4.73|4.73	4.73|4.73	0.59995|0.59995	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.87932	.|D	.|0	-25.8557|-25.8557	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177;101	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	99|177	.|ENSP00000221232:R177H;ENSP00000383954:R177H	.|ENSP00000221232:R177H	A|R	+|+	1|2	0|0	0|0	CNOT3|CNOT3	59341192|59341192	59341192|59341192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.430000|9.430000	0.97488|0.97488	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCT|CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_014516			39	38		159	158	1		1	1		0	0	40	0		1	1	0	34	0	103	0	39	159
CNOT3	4849	broad.mit.edu	37	19	54652176	54652176	+	Silent	SNP	C	C	T	rs370903869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	396					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGCCTAgcggaggcggag	0.706													C|||	3	0.000599042	0.0008	0.0	5008	,	,		9878	0.0		0.001	False		,,,				2504	0.001					ENST00000406403.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				28						c.(1186-1188)agC>agT		CCR4-NOT transcription complex, subunit 3		C		3,4053		0,3,2025	6.0	8.0	7.0		1188	-3.9	0.0	19		7	2,7984		0,2,3991	no	coding-synonymous	CNOT3	NM_014516.3		0,5,6016	TT,TC,CC		0.025,0.074,0.0415		396/754	54652176	5,12037	2028	3993	6021	SO:0001819	synonymous_variant	4849	25	118520	39				g.chr19:54652176C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1188C>T	chr19.hg19:g.54652176C>T		0					CNOT3_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S	p.S396S			1	2	3	2.010022	O75175	CNOT3_HUMAN		10	2791	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	1	1	hg19	c.1188C>T	CCDS12880.1	1	.	.	.	.	.	.	.	.	.	.	c	0.073	-1.198728	0.01581	7.4E-4	2.5E-4	ENSG00000088038	ENST00000440571	.	.	.	3.15	-3.94	0.04130	3.15	-3.94	0.04130	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.0331	5.4076	0.16330	0.0:0.3536:0.1466:0.4998	.	.	.	.	V	318	.	.	A	+	2	0	0	CNOT3	59343988	59343988	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-1.357000	0.02607	-0.906000	0.03866	-0.436000	0.05848	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-3.354680	1	0.170000	NM_014516			26	26		92	90	0		1	1		0	0	12	0		1	9.688721e-01	0	4	0	19	0	26	92
CNOT3	4849	broad.mit.edu	37	19	54656031	54656031	+	Silent	SNP	C	C	T	rs200050236	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54656031C>T	ENST00000406403.1	+	13	3277	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.D558D|CNOT3_ENST00000358389.3_Silent_p.D377D			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	558	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCATTGAGGACCCTGTGCCAA	0.652													C|||	4	0.000798722	0.0	0.0	5008	,	,		18842	0.004		0.0	False		,,,				2504	0.0					ENST00000406403.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1672-1674)gaC>gaT		CCR4-NOT transcription complex, subunit 3							65.0	62.0	63.0					19																	54656031		2203	4300	6503	SO:0001819	synonymous_variant	4849	27	121412	45				g.chr19:54656031C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1674C>T	chr19.hg19:g.54656031C>T		0					CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.D558D|CNOT3_ENST00000358389.3_Silent_p.D377D	p.D558D			1	2	3	2.010022	O75175	CNOT3_HUMAN		13	3277	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	1	0	hg19	c.1674C>T	CCDS12880.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	10.13	1.265663	0.23136	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.59	-0.545	0.11843	4.59	-0.545	0.11843	.	.	.	.	.	T	0.47358	0.1441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	-37.2479	9.3688	0.38241	0.0:0.6044:0.0:0.3956	.	.	.	.	S	90	.	.	P	+	1	0	0	CNOT3	59347843	59347843	0.997000	0.39634	0.998000	0.56505	0.974000	0.67602	0.422000	0.21296	0.143000	0.18926	-0.137000	0.14449	CCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_014516			85	84		402	391	0		1	1		0	0	79	0		1	1	0	33	0	85	0	85	402
CNOT3	4849	broad.mit.edu	37	19	54659048	54659048	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	CNOT3_ENST00000221232.5_Splice_Site_p.G722V|LENG1_ENST00000222224.3_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	722	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGCCAGGGCACCTACATC	0.592																																						ENST00000406403.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996357	0.990000	1.000000																										0				28						c.(2164-2166)gGc>gTc		CCR4-NOT transcription complex, subunit 3							68.0	55.0	59.0					19																	54659048		2203	4300	6503	SO:0001630	splice_region_variant	4849	0	0					g.chr19:54659048G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2164-1G>T	chr19.hg19:g.54659048G>T		0					CNOT3_ENST00000221232.5_Splice_Site_p.G722V|LENG1_ENST00000222224.3_3'UTR	p.G722V			1	2	3	2.010022	O75175	CNOT3_HUMAN		17	3768	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	1	0	hg19	c.2165G>T	CCDS12880.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770074	0.90108	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.61274	0.12;0.12;0.12	4.49	4.49	0.54785	4.49	4.49	0.54785	NOT2/NOT3/NOT5 (1);	0.065863	0.64402	D	0.000017	D	0.82747	0.5104	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88337	0.2972	10	0.87932	D	0	-29.4252	16.5216	0.84318	0.0:0.0:1.0:0.0	.	722	O75175	CNOT3_HUMAN	V	722;722;57	ENSP00000221232:G722V;ENSP00000383954:G722V;ENSP00000420064:G57V	ENSP00000221232:G722V	G	+	2	0	0	CNOT3	59350860	59350860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.503000	0.84419	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_014516	Missense_Mutation		16	16		105	103	1		1	1		0	0	39	0		9.999474e-01	9.999748e-01	0	46	0	86	0	16	105
CNOT3	4849	broad.mit.edu	37	19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W|LENG1_ENST00000222224.3_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	735	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGGGGCCAGCGGAAGAAGGA	0.637																																						ENST00000406403.1	1.000000	0.900000	1	9.900000e-01	0.990000	0.994534	0.990000	1.000000																										0				28						c.(2203-2205)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							83.0	67.0	73.0					19																	54659086		2203	4300	6503	SO:0001583	missense	4849	0	0					g.chr19:54659086C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2203C>T	chr19.hg19:g.54659086C>T	ENSP00000383954:p.Arg735Trp	0					CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W|LENG1_ENST00000222224.3_3'UTR	p.R735W			1	2	3	2.010022	O75175	CNOT3_HUMAN		17	3806	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	1	1	hg19	c.2203C>T	CCDS12880.1	1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906876	0.72868	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.49720	0.77;0.77;0.77	4.77	1.38	0.22167	4.77	1.38	0.22167	NOT2/NOT3/NOT5 (1);	0.141024	0.42821	D	0.000656	T	0.54775	0.1879	H	0.95437	3.67	0.80722	D	1	B	0.18310	0.027	B	0.17722	0.019	T	0.55541	-0.8125	10	0.87932	D	0	-20.1511	5.2967	0.15756	0.2816:0.562:0.0:0.1564	.	735	O75175	CNOT3_HUMAN	W	735;735;70	ENSP00000221232:R735W;ENSP00000383954:R735W;ENSP00000420064:R70W	ENSP00000221232:R735W	R	+	1	2	2	CNOT3	59350898	59350898	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	0.312000	0.23038	0.561000	0.74099	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-19.999800	1	0.170000	NM_014516			15	14		102	99	1		1	1		0	0	38	0		9.998812e-01	9.997468e-01	0	35	0	68	0	15	102
LENG1	79165	broad.mit.edu	37	19	54660522	54660522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54660522G>T	ENST00000222224.3	-	3	740	c.554C>A	c.(553-555)tCt>tAt	p.S185Y		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	185										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGCTTCTCAGACCCCTCCTT	0.617																																						ENST00000222224.3	1.000000	0.170000	4.200000e-01	2.300000e-01	0.300000	0.366136	0.300000	0.290000																										0				8						c.(553-555)tCt>tAt		leukocyte receptor cluster (LRC) member 1							105.0	94.0	97.0					19																	54660522		2203	4300	6503	SO:0001583	missense	79165	0	0					g.chr19:54660522G>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.554C>A	chr19.hg19:g.54660522G>T	ENSP00000222224:p.Ser185Tyr	0						p.S185Y	NM_024316.1	NP_077292.1	1	2	3	2.010022	Q96BZ8	LENG1_HUMAN		3	740	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	0	1	hg19	c.554C>A	CCDS12881.1	0	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421078	0.42918	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	5.07	-1.7	0.08159	5.07	-1.7	0.08159	.	3.044690	0.00990	N	0.003510	T	0.32194	0.0821	N	0.17838	0.53	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.26430	-1.0103	10	0.59425	D	0.04	20.2453	3.3208	0.07049	0.0824:0.2918:0.3611:0.2647	.	185	Q96BZ8	LENG1_HUMAN	Y	185	ENSP00000222224:S185Y	ENSP00000222224:S185Y	S	-	2	0	0	LENG1	59352334	59352334	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	0.409000	0.21082	-0.181000	0.10619	0.609000	0.83330	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-2.927515	1	0.170000	NM_024316			15	15		590	587	0		1	1		0	0	102	0		9.998678e-01	6.458124e-01	0	2	0	84	0	15	590
TMC4	147798	broad.mit.edu	37	19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000301187.4_Missense_Mutation_p.I309T|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000476013.2_Intron	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	315					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)					GTACAAGATGATGCGCTGGCG	0.627																																						ENST00000376591.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999866	0.990000	1.000000																										0				22						c.(943-945)aTc>aCc		transmembrane channel-like 4							45.0	34.0	38.0					19																	54669172		2203	4300	6503	SO:0001583	missense	147798	0	0					g.chr19:54669172A>G	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.944T>C	chr19.hg19:g.54669172A>G	ENSP00000365776:p.Ile315Thr	0					TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.I309T	p.I315T	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	1	2	3	2.010022	Q7Z404	TMC4_HUMAN		6	1075	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	1	1	hg19	c.944T>C	CCDS46174.1	1	.	.	.	.	.	.	.	.	.	.	A	7.863	0.726483	0.15439	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.48836	0.8;0.8	4.8	-9.6	0.00553	4.8	-9.6	0.00553	.	1.465370	0.03977	N	0.292608	T	0.22166	0.0534	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.004;0.007	T	0.11743	-1.0575	10	0.32370	T	0.25	1.9022	3.5511	0.07847	0.1261:0.1019:0.1674:0.6046	.	315;309	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	309;315	ENSP00000301187:I309T;ENSP00000365776:I315T	ENSP00000301187:I309T	I	-	2	0	0	TMC4	59360984	59360984	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-3.812000	0.00360	-2.500000	0.00511	0.529000	0.55759	ATC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				21	21		105	103	1		1	1		0	0	23	0		9.999985e-01	9.995719e-01	0	7	0	60	0	21	105
LILRA6	79168	broad.mit.edu	37	19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	441					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				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)		CTGTGTAATCCTTGGCGTGTG	0.592																																						ENST00000396365.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999314	0.990000	1.000000																										0				38						c.(1321-1323)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							112.0	102.0	105.0					19																	54742952		2180	4298	6478	SO:0001583	missense	79168	0	0					g.chr19:54742952C>A	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.1323G>T	chr19.hg19:g.54742952C>A	ENSP00000379651:p.Lys441Asn	1					LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron	p.K441N	NM_024318.2	NP_077294	0	7	7	2.614922	Q6PI73	LIRA6_HUMAN		8	1362	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			Missense_Mutation	SNP	ENST00000396365.2	1	1	hg19	c.1323G>T	CCDS42610.1	1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983783	0.18889	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00523	6.85;6.83	2.69	1.44	0.22558	2.69	1.44	0.22558	.	.	.	.	.	T	0.00384	0.0012	L	0.34521	1.04	0.36748	D	0.882587	B	0.12630	0.006	B	0.04013	0.001	T	0.58526	-0.7621	9	0.66056	D	0.02	.	4.9023	0.13781	0.0:0.7616:0.0:0.2384	.	441	Q6PI73	LIRA6_HUMAN	N	441;424	ENSP00000379651:K441N;ENSP00000245621:K424N	ENSP00000245621:K424N	K	-	3	2	2	LILRA6	59434764	59434764	0.014000	0.17966	0.096000	0.21009	0.039000	0.13416	-0.216000	0.09266	0.255000	0.21593	0.174000	0.16983	AAG	4.175439e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-2.879461	1	0.170000	NM_024318			40	40		429	421	0		1	0		0	0	104	0		1	5.515554e-01	0	0	0	21	0	40	429
LILRA6	79168	broad.mit.edu	37	19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000396365.2	-	4	443	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	135					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				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)		CCCCCCTGAGGCCACCACAGG	0.562																																						ENST00000396365.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				38						c.(403-405)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							42.0	71.0	61.0					19																	54745706		2126	4294	6420	SO:0001583	missense	79168	0	0					g.chr19:54745706G>A	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.404C>T	chr19.hg19:g.54745706G>A	ENSP00000379651:p.Ala135Val	1					LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron	p.A135V	NM_024318.2	NP_077294	0	7	7	2.614922	Q6PI73	LIRA6_HUMAN		4	443	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			Missense_Mutation	SNP	ENST00000396365.2	1	1	hg19	c.404C>T	CCDS42610.1	1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951506	0.34471	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;4.09;2.68;2.68	3.4	2.34	0.29019	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	1.765360	0.02642	N	0.105493	T	0.35335	0.0928	M	0.72353	2.195	0.09310	N	1	B;B;P;P;P;P	0.51791	0.413;0.354;0.803;0.617;0.796;0.948	B;B;P;B;P;D	0.63192	0.352;0.26;0.472;0.255;0.471;0.912	T	0.02877	-1.1099	10	0.59425	D	0.04	.	6.8117	0.23809	0.1364:0.0:0.8636:0.0	.	135;135;135;135;135;135	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	V	135	ENSP00000390120:A135V;ENSP00000270464:A135V;ENSP00000411227:A135V;ENSP00000375615:A135V;ENSP00000379651:A135V;ENSP00000245621:A135V	ENSP00000245621:A135V	A	-	2	0	0	LILRA6	59437518	59437518	0.024000	0.19004	0.052000	0.19188	0.049000	0.14656	2.509000	0.45459	0.789000	0.33779	0.184000	0.17185	GCC	4.175439e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	1	0	1		2	2	2	0		0	0	207		207	239	1	2.060000	-19.685370	1	0.170000	NM_024318			87	82		944	884	0		1	0		0	0	207	0		1	4.303831e-01	0	0	0	17	0	87	944
LILRB5	10990	broad.mit.edu	37	19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000316219.5	-	4	706	c.599G>T	c.(598-600)aGg>aTg	p.R200M	LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M|LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000345866.6_Intron	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	200	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			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)		AGGGTTTTTCCTGTAATAGTA	0.532																																						ENST00000316219.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(598-600)aGg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							56.0	64.0	61.0					19																	54759962		2203	4300	6503	SO:0001583	missense	10990	0	0					g.chr19:54759962C>A	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.599G>T	chr19.hg19:g.54759962C>A	ENSP00000320390:p.Arg200Met	0					LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M|LILRB5_ENST00000345866.6_Intron	p.R200M	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	1	2	3	2.033829	O75023	LIRB5_HUMAN		4	706	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	1	1	hg19	c.599G>T	CCDS12885.1	1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371914	0.42003	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00768	5.72;5.72;5.72	3.25	0.989	0.19802	3.25	0.989	0.19802	Immunoglobulin-like fold (1);	1.747240	0.03172	N	0.170856	T	0.04227	0.0117	M	0.84948	2.725	0.09310	N	1	D;D;D	0.76494	0.981;0.999;0.999	P;D;D	0.66847	0.783;0.932;0.947	T	0.27054	-1.0085	10	0.44086	T	0.13	.	4.4133	0.11443	0.0:0.6292:0.2346:0.1362	.	191;200;200	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	M	200;191;200	ENSP00000320390:R200M;ENSP00000414225:R191M;ENSP00000406478:R200M	ENSP00000320390:R200M	R	-	2	0	0	LILRB5	59451774	59451774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.499000	0.06413	0.190000	0.20209	0.446000	0.29264	AGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.645333	1	0.170000				67	66		311	305	1		1	0		0	0	69	0		1	8.014125e-01	0	0	0	16	0	67	311
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391749.4	-	14	1962	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q563R|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	564					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652																																						ENST00000391749.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1690-1692)cAg>cGg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							104.0	96.0	99.0					19																	54778643		2203	4300	6503	SO:0001583	missense	10288	2	121412	31				g.chr19:54778643T>C	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1691A>G	chr19.hg19:g.54778643T>C	ENSP00000375629:p.Gln564Arg	0					LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q563R	p.Q564R	NM_001278406.1	NP_001265335.1	1	2	3	2.033829	Q8N423	LIRB2_HUMAN		14	1962	-	Ovarian(34;0.19)		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	1	1	hg19	c.1691A>G	CCDS12886.1	1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598581	0.46318	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00625	6.27;6.27;6.25;6.14	1.31	1.31	0.21738	1.31	1.31	0.21738	.	.	.	.	.	T	0.02970	0.0088	M	0.87900	2.915	0.18873	N	0.999982	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.979	T	0.33828	-0.9853	9	0.66056	D	0.02	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	580;564	E7EVY1;Q8N423	.;LIRB2_HUMAN	R	563;563;564;448	ENSP00000375628:Q563R;ENSP00000319960:Q563R;ENSP00000375629:Q564R;ENSP00000410117:Q448R	ENSP00000319960:Q563R	Q	-	2	0	0	LILRB2	59470455	59470455	0.934000	0.31675	0.664000	0.29753	0.267000	0.26476	0.579000	0.23788	0.885000	0.36088	0.246000	0.17985	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	1	0	1		2	2	2	0		0	0	100		100	115	1	2.060000	-20.000000	1	0.170000				107	98		402	376	1		1	0		0	0	100	0		1	9.999999e-01	0	0	0	90	0	107	402
LILRB2	10288	broad.mit.edu	37	19	54782896	54782896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391749.4	-	6	997	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000434421.1_Silent_p.T126T|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000391748.1_Silent_p.T242T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Silent_p.T242T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	242	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCAGGCTTT	0.602																																						ENST00000391749.4	1.000000	0.220000	5.600000e-01	2.900000e-01	0.380000	0.462031	0.380000	0.360000																										0				44						c.(724-726)acC>acT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							96.0	98.0	98.0					19																	54782896		2203	4300	6503	SO:0001819	synonymous_variant	10288	0	0					g.chr19:54782896G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.726C>T	chr19.hg19:g.54782896G>A		0					LILRB2_ENST00000434421.1_Silent_p.T126T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Silent_p.T242T	p.T242T	NM_001278406.1	NP_001265335.1	1	2	3	2.033829	Q8N423	LIRB2_HUMAN		6	997	-	Ovarian(34;0.19)		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	1	1	hg19	c.726C>T	CCDS12886.1	0																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.456219	1	0.170000				17	17		542	533	0		1	0		0	0	108	0		9.999607e-01	5.000182e-01	0	0	0	53	0	17	542
LILRA5	353514	broad.mit.edu	37	19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		GAGCCACACTGGAGGGTCACG	0.562																																						ENST00000301219.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(481-483)Cag>Aag		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							77.0	76.0	76.0					19																	54822915		2203	4300	6503	SO:0001583	missense	353514	0	0					g.chr19:54822915G>T	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.481C>A	chr19.hg19:g.54822915G>T	ENSP00000301219:p.Gln161Lys	0					LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K	p.Q161K	NM_021250.2	NP_067073.1	1	2	3	2.033829	A6NI73	LIRA5_HUMAN		5	600	-	Ovarian(34;0.19)		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	1	1	hg19	c.481C>A	CCDS12888.1	1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515449	0.12944	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	3.14	2.04	0.26737	3.14	2.04	0.26737	Immunoglobulin-like fold (1);	0.690178	0.11907	U	0.518010	T	0.05823	0.0152	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.29115	0.106;0.233;0.094;0.11	B;B;B;B	0.29077	0.071;0.056;0.03;0.098	T	0.27839	-1.0062	10	0.51188	T	0.08	.	7.5281	0.27666	0.0:0.0:0.7427:0.2573	.	149;161;149;161	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	K	161;149;149;161	ENSP00000301219:Q161K;ENSP00000302948:Q149K;ENSP00000389499:Q149K;ENSP00000404236:Q161K	ENSP00000301219:Q161K	Q	-	1	0	0	LILRA5	59514727	59514727	0.538000	0.26394	0.176000	0.23000	0.021000	0.10359	1.675000	0.37555	0.407000	0.25591	0.205000	0.17691	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.381598	1	0.170000	NM_181985			92	87		392	381	1		1	0		0	0	103	0		1	9.943610e-01	0	0	0	36	0	92	392
LILRA4	23547	broad.mit.edu	37	19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	186	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557																																						ENST00000291759.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				32						c.(556-558)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							89.0	76.0	80.0					19																	54849305		2203	4300	6503	SO:0001583	missense	23547	0	0					g.chr19:54849305G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.557C>T	chr19.hg19:g.54849305G>A	ENSP00000291759:p.Thr186Ile	0					AC008984.2_ENST00000507363.1_RNA	p.T186I	NM_012276.3	NP_036408.3	1	2	3	2.033829	P59901	LIRA4_HUMAN		4	613	-	Ovarian(34;0.19)		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	1	1	hg19	c.557C>T	CCDS12890.1	1	.	.	.	.	.	.	.	.	.	.	.	9.285	1.049228	0.19827	.	.	ENSG00000239961	ENST00000291759	T	0.03831	3.79	2.76	-5.52	0.02560	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845757	0.10283	N	0.693289	T	0.06690	0.0171	M	0.83012	2.62	0.09310	N	1	B	0.29571	0.249	B	0.30572	0.117	T	0.21245	-1.0251	10	0.62326	D	0.03	.	2.6998	0.05145	0.2127:0.4668:0.186:0.1345	.	186	P59901	LIRA4_HUMAN	I	186	ENSP00000291759:T186I	ENSP00000291759:T186I	T	-	2	0	0	LILRA4	59541117	59541117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.254000	0.02874	-1.571000	0.01663	-0.244000	0.11960	ACC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_012276			33	33		196	195	1		1	0		0	0	57	0		1	5.975285e-02	0	0	0	3	0	33	196
TTYH1	57348	broad.mit.edu	37	19	54932493	54932493	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000376530.3	+	3	451	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000301194.4_Silent_p.S116S	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	116					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)			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)		GTGAGACCAGTGATGGGGTGT	0.637																																						ENST00000376530.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(346-348)agT>agC		tweety family member 1							123.0	101.0	108.0					19																	54932493		2203	4300	6503	SO:0001819	synonymous_variant	57348	0	0					g.chr19:54932493T>C	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.348T>C	chr19.hg19:g.54932493T>C		0					TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000301194.4_Silent_p.S116S	p.S116S	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	1	2	3	2.033829	Q9H313	TTYH1_HUMAN		3	451	+	Ovarian(34;0.19)		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	1	1	hg19	c.348T>C	CCDS12893.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				63	62		306	302	1		1	0		0	0	89	0		1	2.083922e-01	0	0	0	5	0	63	306
LENG8	114823	broad.mit.edu	37	19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	128										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTCGGCTCAGCCCCCTCAGC	0.682																																						ENST00000326764.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(493-495)caG>caT		leukocyte receptor cluster (LRC) member 8							28.0	30.0	29.0					19																	54965677		2203	4300	6503	SO:0001583	missense	114823	0	0					g.chr19:54965677G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.495G>T	chr19.hg19:g.54965677G>T	ENSP00000318374:p.Gln165His	0					LENG8_ENST00000376514.2_Intron	p.Q165H	NM_052925.2	NP_443157.1	1	2	3	2.033829	Q96PV6	LENG8_HUMAN		6	974	+	Ovarian(34;0.19)		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	1	1	hg19	c.495G>T	CCDS12894.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118360	0.56505	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.48201	1.39;0.82;1.42;1.35	5.23	3.05	0.35203	5.23	3.05	0.35203	.	0.363370	0.28671	N	0.014526	T	0.43500	0.1250	L	0.51422	1.61	0.80722	D	1	P;P	0.48503	0.911;0.627	P;B	0.47981	0.563;0.098	T	0.24225	-1.0166	10	0.14656	T	0.56	-30.3481	9.66	0.39950	0.1731:0.0:0.8269:0.0	.	165;128	Q96PV6-2;F8W9Q9	.;.	H	165;128;165;128;165	ENSP00000318374:Q165H;ENSP00000399507:Q165H;ENSP00000365709:Q128H;ENSP00000388053:Q165H	ENSP00000301196:Q128H	Q	+	3	2	2	LENG8	59657489	59657489	0.995000	0.38212	1.000000	0.80357	0.692000	0.40212	0.414000	0.21164	1.314000	0.45095	0.655000	0.94253	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_052925			43	42		205	201	1		1	1		0	0	47	0		1	9.999999e-01	0	38	0	90	0	43	205
LENG8	114823	broad.mit.edu	37	19	54966209	54966209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	216										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTGGCTCCAACGCAGAGGGCC	0.607																																						ENST00000326764.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(757-759)aaC>aaT		leukocyte receptor cluster (LRC) member 8							69.0	67.0	67.0					19																	54966209		2203	4300	6503	SO:0001819	synonymous_variant	114823	2	121412	32				g.chr19:54966209C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.759C>T	chr19.hg19:g.54966209C>T		0					LENG8_ENST00000376514.2_Intron	p.N253N	NM_052925.2	NP_443157.1	1	2	3	2.033829	Q96PV6	LENG8_HUMAN		7	1238	+	Ovarian(34;0.19)		B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	1	1	hg19	c.759C>T	CCDS12894.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_052925			51	51		231	224	1		1	1		0	0	64	0		1	9.999999e-01	0	24	0	89	0	51	231
LENG8	114823	broad.mit.edu	37	19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	254										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGGCCCCAGGACATGAAAG	0.632																																						ENST00000326764.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(871-873)caG>caT		leukocyte receptor cluster (LRC) member 8							53.0	60.0	58.0					19																	54966594		2203	4300	6503	SO:0001583	missense	114823	0	0					g.chr19:54966594G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.873G>T	chr19.hg19:g.54966594G>T	ENSP00000318374:p.Gln291His	0					LENG8_ENST00000376514.2_Intron	p.Q291H	NM_052925.2	NP_443157.1	1	2	3	2.033829	Q96PV6	LENG8_HUMAN		8	1352	+	Ovarian(34;0.19)		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	1	1	hg19	c.873G>T	CCDS12894.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001255	0.74818	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.57273	1.42;0.41;1.41;1.39	5.38	3.23	0.37069	5.38	3.23	0.37069	.	0.059035	0.64402	D	0.000002	T	0.63815	0.2543	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.925;0.998	P;D	0.69479	0.735;0.964	T	0.64711	-0.6343	10	0.59425	D	0.04	-23.4433	7.9572	0.30049	0.2569:0.0:0.7431:0.0	.	291;254	Q96PV6-2;F8W9Q9	.;.	H	291;254;291;254;291	ENSP00000318374:Q291H;ENSP00000399507:Q291H;ENSP00000365709:Q254H;ENSP00000388053:Q291H	ENSP00000301196:Q254H	Q	+	3	2	2	LENG8	59658406	59658406	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.724000	0.47285	1.419000	0.47118	-0.136000	0.14681	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-4.088641	1	0.170000	NM_052925			82	80		277	271	1		1	1		0	0	65	0		1	1	0	39	0	89	0	82	277
LENG8	114823	broad.mit.edu	37	19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAGGTGTACGAGACCCATGC	0.667																																						ENST00000326764.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1873-1875)Gag>Aag		leukocyte receptor cluster (LRC) member 8							65.0	71.0	69.0					19																	54969152		2203	4300	6503	SO:0001583	missense	114823	0	0					g.chr19:54969152G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1873G>A	chr19.hg19:g.54969152G>A	ENSP00000318374:p.Glu625Lys	0					LENG8_ENST00000376514.2_Intron	p.E625K	NM_052925.2	NP_443157.1	1	2	3	2.033829	Q96PV6	LENG8_HUMAN		13	2352	+	Ovarian(34;0.19)		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	1	1	hg19	c.1873G>A	CCDS12894.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.524366	0.96431	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.39229	1.09;1.09;1.09	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.89840	3.065	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.48552	0.581;0.432	T	0.71981	-0.4428	10	0.87932	D	0	-27.9672	16.5215	0.84318	0.0:0.0:1.0:0.0	.	625;588	Q96PV6-2;F8W9Q9	.;.	K	625;588;588;625	ENSP00000318374:E625K;ENSP00000365709:E588K;ENSP00000388053:E625K	ENSP00000301196:E588K	E	+	1	0	0	LENG8	59660964	59660964	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.529066	1	0.170000	NM_052925			67	66		281	275	1		1	1		0	0	75	0		1	1	0	35	0	116	0	67	281
LAIR2	3904	broad.mit.edu	37	19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region (GO:0005576)				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)		AAGCCCCCTGGATGGTCTGAG	0.547																																						ENST00000301202.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(322-324)gGa>gAa		leukocyte-associated immunoglobulin-like receptor 2							102.0	101.0	101.0					19																	55019358		2203	4300	6503	SO:0001583	missense	3904	0	0					g.chr19:55019358G>A	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.323G>A	chr19.hg19:g.55019358G>A	ENSP00000301202:p.Gly108Glu	0					LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	p.G108E	NM_002288.4	NP_002279.2	1	2	3	2.033829	Q6ISS4	LAIR2_HUMAN		3	445	+	Ovarian(34;0.19)		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	1	1	hg19	c.323G>A	CCDS12897.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458951	0.01062	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15139	2.45;2.61	3.77	-7.55	0.01327	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08088	0.0202	N	0.13272	0.32	0.09310	N	1	B;B	0.27068	0.167;0.125	B;B	0.31390	0.085;0.129	T	0.18935	-1.0321	9	.	.	.	.	1.3272	0.02128	0.1782:0.2237:0.1497:0.4485	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	E	108	ENSP00000301202:G108E;ENSP00000301203:G108E	.	G	+	2	0	0	LAIR2	59711170	59711170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-5.739000	0.00101	-1.884000	0.01119	0.313000	0.20887	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000				109	106		487	479	1		1	0		0	0	119	0		1	9.480983e-01	0	0	0	24	0	109	487
LILRA2	11027	broad.mit.edu	37	19	55086036	55086036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000251377.3	+	4	472	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.E101E|LILRA2_ENST00000391738.3_Silent_p.E113E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	113	Ig-like C2-type 1.				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)			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)		ACCCCCTGGAGCTGGTGGTGA	0.607																																						ENST00000251377.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(337-339)gaG>gaA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							70.0	63.0	65.0					19																	55086036		2203	4300	6503	SO:0001819	synonymous_variant	11027	0	0					g.chr19:55086036G>A	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.339G>A	chr19.hg19:g.55086036G>A		0					LILRA2_ENST00000391737.1_Silent_p.E101E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRB1_ENST00000448689.1_Intron	p.E113E			1	2	3	2.033829	Q8N149	LIRA2_HUMAN		4	472	+			O75020	Silent	SNP	ENST00000251377.3	1	1	hg19	c.339G>A	CCDS46179.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000				70	69		272	268	1		1	0		0	0	76	0		1	8.413002e-01	0	0	0	15	0	70	272
LILRA2	11027	broad.mit.edu	37	19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000251377.3	+	5	660	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	176	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)			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)		CGTGGGTGGTCCTGGGCCATC	0.567																																						ENST00000251377.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999052	0.990000	1.000000																										0				50						c.(526-528)tCc>tAc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							165.0	153.0	157.0					19																	55086372		2203	4300	6503	SO:0001583	missense	11027	0	0					g.chr19:55086372C>A	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.527C>A	chr19.hg19:g.55086372C>A	ENSP00000251377:p.Ser176Tyr	0					LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000448689.1_Intron	p.S176Y			1	2	3	2.033829	Q8N149	LIRA2_HUMAN		5	660	+			O75020	Missense_Mutation	SNP	ENST00000251377.3	1	1	hg19	c.527C>A	CCDS46179.1	1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881285	0.02530	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	2.4	-4.8	0.03190	2.4	-4.8	0.03190	Immunoglobulin-like fold (1);	2.625940	0.01171	N	0.006877	T	0.06645	0.0170	L	0.42581	1.335	0.09310	N	1	B;B;B;D	0.60575	0.015;0.136;0.247;0.988	B;B;B;P	0.56163	0.006;0.097;0.15;0.793	T	0.51725	-0.8669	10	0.02654	T	1	.	8.9482	0.35771	0.0:0.2403:0.0:0.7597	.	176;164;176;176	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	176;176;176;176;164	ENSP00000388131:S176Y;ENSP00000251377:S176Y;ENSP00000375618:S176Y;ENSP00000251376:S176Y;ENSP00000375617:S164Y	ENSP00000251376:S176Y	S	+	2	0	0	LILRA2	59778184	59778184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.287000	0.00526	-1.244000	0.02516	-0.358000	0.07595	TCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-19.999980	1	0.170000				81	80		701	685	1		1	0		0	0	135	0		1	6.555376e-01	0	0	0	21	0	81	701
LILRA2	11027	broad.mit.edu	37	19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A	rs561216122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000251377.3	+	6	850	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	239	Ig-like C2-type 3.				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)			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)		CCGGGGAGAGCCTGACCCTCC	0.577																																						ENST00000251377.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(715-717)agC>agA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							108.0	110.0	109.0					19																	55086784		2203	4300	6503	SO:0001583	missense	11027	0	0					g.chr19:55086784C>A	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.717C>A	chr19.hg19:g.55086784C>A	ENSP00000251377:p.Ser239Arg	0					LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRB1_ENST00000448689.1_Intron	p.S239R			1	2	3	2.033829	Q8N149	LIRA2_HUMAN		6	850	+			O75020	Missense_Mutation	SNP	ENST00000251377.3	1	1	hg19	c.717C>A	CCDS46179.1	1	.	.	.	.	.	.	.	.	.	.	C	5.286	0.238185	0.10023	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	2.11	-1.96	0.07525	2.11	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.810500	0.03188	N	0.172960	T	0.01254	0.0041	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.22541	0.071;0.003;0.006;0.001	B;B;B;B	0.25759	0.063;0.014;0.014;0.005	T	0.47749	-0.9093	10	0.49607	T	0.09	.	3.4604	0.07531	0.0:0.5:0.2107:0.2894	.	239;227;239;239	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	239;239;239;239;227	ENSP00000388131:S239R;ENSP00000251377:S239R;ENSP00000375618:S239R;ENSP00000251376:S239R;ENSP00000375617:S227R	ENSP00000251376:S239R	S	+	3	2	2	LILRA2	59778596	59778596	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.865000	0.04250	-0.361000	0.08125	-1.294000	0.01345	AGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-2.694740	1	0.170000				105	103		456	445	1		1	0		0	0	120	0		1	9.340124e-01	0	0	0	21	0	105	456
KIR2DL3	3804	broad.mit.edu	37	19	55263116	55263116	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55263116T>C	ENST00000342376.3	+	6	762	c.731T>C	c.(730-732)cTg>cCg	p.L244P	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	244					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCCAGACACCTGCATGTTCTG	0.438																																						ENST00000342376.3	1.000000	0.330000	6.300000e-01	4.000000e-01	0.480000	0.548201	0.480000	0.470000																										0				21						c.(730-732)cTg>cCg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							168.0	146.0	154.0					19																	55263116		1419	2575	3994	SO:0001583	missense	3804	0	0					g.chr19:55263116T>C	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.731T>C	chr19.hg19:g.55263116T>C	ENSP00000342215:p.Leu244Pro	0					KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	p.L244P	NM_015868.2	NP_056952.2	1	2	3	2.033829	P43628	KI2L3_HUMAN		6	762	+			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	1	1	hg19	c.731T>C	CCDS33107.1	0	.	.	.	.	.	.	.	.	.	.	T	5.182	0.219131	0.09863	.	.	ENSG00000243772	ENST00000342376	T	0.00542	6.69	0.635	0.635	0.17723	0.635	0.635	0.17723	.	.	.	.	.	T	0.02888	0.0086	H	0.94698	3.57	0.09310	N	1	P;D;D;D	0.89917	0.568;0.991;1.0;1.0	B;D;D;D	0.91635	0.355;0.991;0.999;0.999	T	0.14952	-1.0454	8	0.87932	D	0	.	.	.	.	.	244;146;244;244	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	P	244	ENSP00000342215:L244P	ENSP00000342215:L244P	L	+	2	0	0	KIR2DL3	59954928	59954928	0.001000	0.12720	0.004000	0.12327	0.012000	0.07955	0.104000	0.15313	0.516000	0.28340	0.248000	0.18094	CTG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1	0	0	1		2	2	2	0		0	0	153		153	161	1	2.060000	-4.120396	1	0.170000				36	32		879	790	0		1	0		0	0	153	0		1	2.235350e-02	0	0	0	6	0	36	879
FCAR	2204	broad.mit.edu	37	19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	286					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522																																						ENST00000355524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(856-858)tGc>tAc		Fc fragment of IgA, receptor for							78.0	81.0	80.0					19																	55401222		2203	4300	6503	SO:0001583	missense	2204	0	0					g.chr19:55401222G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.857G>A	chr19.hg19:g.55401222G>A	ENSP00000347714:p.Cys286Tyr	0					FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y	p.C286Y	NM_002000.2	NP_001991.1	1	2	3	2.033829	P24071	FCAR_HUMAN		5	867	+			Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	1	1	hg19	c.857G>A	CCDS12907.1	1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532216	0.27387	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03831	3.79;6.83;6.46;4.79;6.52;6.65;6.32	2.46	-4.92	0.03075	2.46	-4.92	0.03075	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	D;D;P;D;D;P;D	0.65815	0.995;0.98;0.654;0.99;0.98;0.483;0.976	D;D;B;P;D;B;D	0.72982	0.979;0.962;0.254;0.781;0.962;0.118;0.923	T	0.12811	-1.0533	9	0.87932	D	0	.	3.4708	0.07566	0.1373:0.1611:0.5515:0.1502	.	177;252;178;274;264;190;286	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	Y	178;286;264;190;177;274;252	ENSP00000375606:C178Y;ENSP00000347714:C286Y;ENSP00000375605:C264Y;ENSP00000338257:C190Y;ENSP00000338058:C177Y;ENSP00000352218:C274Y;ENSP00000375604:C252Y	ENSP00000338257:C190Y	C	+	2	0	0	FCAR	60093034	60093034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.608000	0.02068	-1.199000	0.02666	-0.262000	0.10625	TGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	1	0	0		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_002000			113	112		477	471	0		1	0		0	0	120	0		1	9.714401e-02	0	0	0	3	0	113	477
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000291890.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(718-720)aCg>aTg		natural cytotoxicity triggering receptor 1							129.0	121.0	124.0					19																	55423572		2203	4300	6503	SO:0001583	missense	9437	2	121412	35				g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	chr19.hg19:g.55423572C>T	ENSP00000291890:p.Thr240Met	0					NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M	p.T240M	NM_004829.5	NP_004820.2	1	2	3	2.033829	O76036	NCTR1_HUMAN		6	757	+			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	1	1	hg19	c.719C>T	CCDS12911.1	1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	0	NCR1	60115384	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1	0	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000				89	87		423	415	1		1	0		0	0	132	0		1	8.178586e-02	0	0	0	3	0	89	423
NLRP7	199713	broad.mit.edu	37	19	55451160	55451160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000590030.1	-	3	1067	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCACGCATGGCTTGGTCCTCG	0.617																																						ENST00000590030.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1027-1029)Gcc>Tcc		NLR family, pyrin domain containing 7							32.0	34.0	33.0					19																	55451160		2202	4293	6495	SO:0001583	missense	199713	0	0					g.chr19:55451160C>A	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.1027G>T	chr19.hg19:g.55451160C>A	ENSP00000465520:p.Ala343Ser	0					NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S	p.A343S			1	2	3	2.033829	Q8WX94	NALP7_HUMAN		3	1067	-			E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	0	1	hg19	c.1027G>T	CCDS33109.1	1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649372	0.47362	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	2.19	-0.0395	0.13875	2.19	-0.0395	0.13875	NACHT nucleoside triphosphatase (1);	0.000000	0.31976	N	0.006779	D	0.84584	0.5504	M	0.72353	2.195	0.09310	N	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	0.73132	-0.4079	10	0.52906	T	0.07	.	4.9523	0.14021	0.0:0.6391:0.2201:0.1409	.	371;343;343;343	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	343;343;343;371;110	ENSP00000329568:A343S;ENSP00000409137:A343S;ENSP00000339491:A343S;ENSP00000414273:A371S	ENSP00000329568:A343S	A	-	1	0	0	NLRP7	60142972	60142972	0.988000	0.35896	0.000000	0.03702	0.006000	0.05464	3.733000	0.55029	0.056000	0.16144	0.462000	0.41574	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	0	1		2	2	2	0		0	0	40		40	51	1	2.060000	-20.000000	1	0.170000	NM_139176			58	45		234	164	0		1			0	0	40	0		1	0	0	0	0	0	0	58	234
NLRP7	199713	broad.mit.edu	37	19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000590030.1	-	3	816	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	259	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552																																						ENST00000590030.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(775-777)aAa>aGa		NLR family, pyrin domain containing 7							87.0	89.0	88.0					19																	55451411		2203	4300	6503	SO:0001583	missense	199713	0	0					g.chr19:55451411T>C	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.776A>G	chr19.hg19:g.55451411T>C	ENSP00000465520:p.Lys259Arg	0					NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R	p.K259R			1	2	3	2.033829	Q8WX94	NALP7_HUMAN		3	816	-			E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	1	1	hg19	c.776A>G	CCDS33109.1	1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611732	0.00835	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	1.76	-2.71	0.05986	1.76	-2.71	0.05986	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44095	0.1277	N	0.01250	-0.93	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.007;0.01;0.01;0.004	T	0.35992	-0.9766	9	0.15066	T	0.55	.	7.2761	0.26286	0.0:0.3325:0.0:0.6675	.	287;259;259;259	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	259;259;259;287	ENSP00000329568:K259R;ENSP00000409137:K259R;ENSP00000339491:K259R;ENSP00000414273:K287R	ENSP00000329568:K259R	K	-	2	0	0	NLRP7	60143223	60143223	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.213000	0.17521	-0.742000	0.04790	-0.609000	0.04063	AAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	1	0	1		17	2	2	0		0	1	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_139176			116	113		515	509	1		1			0	0	125	0		1	0	0	0	0	0	0	116	515
NLRP2	55655	broad.mit.edu	37	19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)			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)		AGGAGCAACGCGGCCCTGTTC	0.632																																						ENST00000543010.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1165-1167)gCg>gTg		NLR family, pyrin domain containing 2							29.0	29.0	29.0					19																	55494232		2203	4298	6501	SO:0001583	missense	55655	1	121406	30				g.chr19:55494232C>T	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.1166C>T	chr19.hg19:g.55494232C>T	ENSP00000445135:p.Ala389Val	0					NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V	p.A389V	NM_001174081.1	NP_001167552.1	1	2	3	2.033829	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	6	1309	+			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	1	1	hg19	c.1166C>T	CCDS12913.1	1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095492	0.36952	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.77;-0.71;-0.71;-0.77;-0.71;-0.82;-0.71;-0.77	1.64	-0.74	0.11115	1.64	-0.74	0.11115	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.76983	0.4064	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;D;P;P	0.64410	0.892;0.925;0.91;0.885;0.862	T	0.62704	-0.6798	10	0.56958	D	0.05	.	0.7271	0.00951	0.2404:0.3548:0.2375:0.1672	.	366;367;386;365;389	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	389;365;367;389;367;366;365;386	ENSP00000445135:A389V;ENSP00000375601:A365V;ENSP00000344074:A367V;ENSP00000409370:A389V;ENSP00000440601:A367V;ENSP00000402474:A366V;ENSP00000441133:A365V;ENSP00000263437:A386V	ENSP00000263437:A386V	A	+	2	0	0	NLRP2	60186044	60186044	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.538000	0.23160	-0.102000	0.12197	-0.265000	0.10407	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	1		2	2	2	0		0	0	51		51	63	1	2.060000	-20.000000	1	0.170000	NM_017852			59	48		228	196	0		1	0		0	0	51	0		1	2.789736e-01	0	0	0	5	0	59	228
NLRP2	55655	broad.mit.edu	37	19	55501543	55501543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000538819.1_Silent_p.C816C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000339757.7_Silent_p.C818C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	840					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)			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)		ACCCCAAGTGCTTTCTGCAGA	0.512																																						ENST00000543010.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(2518-2520)tgC>tgT		NLR family, pyrin domain containing 2							106.0	90.0	95.0					19																	55501543		2203	4300	6503	SO:0001819	synonymous_variant	55655	0	0					g.chr19:55501543C>T	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.2520C>T	chr19.hg19:g.55501543C>T		0					NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000538819.1_Silent_p.C816C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000391721.4_Silent_p.C816C	p.C840C	NM_001174081.1	NP_001167552.1	1	2	3	2.033829	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	9	2663	+			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	1	1	hg19	c.2520C>T	CCDS12913.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	1		2	2	2	0		0	0	59		59	60	1	2.060000	-20.000000	1	0.170000	NM_017852			82	80		322	314	1		1	0		0	0	59	0		1	6.344147e-01	0	0	0	10	0	82	322
GP6	51206	broad.mit.edu	37	19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000417454.1	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.P34S	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	34	Ig-like C2-type 1.				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)			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)		AGGGAGCTGGGCAGAGCCTGG	0.706																																						ENST00000417454.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(100-102)Ccc>Tcc		glycoprotein VI (platelet)							18.0	22.0	21.0					19																	55543732		1959	4138	6097	SO:0001583	missense	51206	0	0					g.chr19:55543732G>A	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.100C>T	chr19.hg19:g.55543732G>A	ENSP00000394922:p.Pro34Ser	0					CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA	p.P34S	NM_016363.4	NP_057447	1	2	3	2.033829	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	3	127	-			Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	1	1	hg19	c.100C>T	CCDS46184.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396014	0.62177	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12879	2.64;2.64;2.64	3.96	3.96	0.45880	3.96	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35128	0.0921	M	0.78285	2.405	0.26996	N	0.965039	D;P;D	0.65815	0.987;0.709;0.995	P;P;D	0.63597	0.766;0.663;0.916	T	0.07290	-1.0780	9	0.87932	D	0	.	11.6946	0.51536	0.0:0.0:1.0:0.0	.	34;34;34	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	34	ENSP00000394922:P34S;ENSP00000308782:P34S;ENSP00000334552:P34S	ENSP00000308782:P34S	P	-	1	0	0	GP6	60235544	60235544	0.910000	0.30920	0.196000	0.23383	0.956000	0.61745	3.954000	0.56708	2.234000	0.73211	0.561000	0.74099	CCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				37	36		151	149	1		1	0		0	0	30	0		1	0	0	0	0	1	0	37	151
EPS8L1	54869	broad.mit.edu	37	19	55589480	55589480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	14					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAAAGCCAAGCGCCAAGTCTA	0.577																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(40-42)agC>agT		EPS8-like 1							60.0	55.0	57.0					19																	55589480		2203	4300	6503	SO:0001819	synonymous_variant	54869	0	0					g.chr19:55589480C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.42C>T	chr19.hg19:g.55589480C>T		0					EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	p.S14S	NM_133180.2	NP_573441.2	1	2	3	2.033829	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	3	98	+			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	1	1	hg19	c.42C>T	CCDS12914.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_017729			39	39		183	177	0		1	1		0	0	28	0		1	9.989254e-01	0	9	0	44	0	39	183
EPS8L1	54869	broad.mit.edu	37	19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A	rs551816363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	45					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACGTTCTGCCTGGGTGAGG	0.587																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				12						c.(133-135)tgC>tgA		EPS8-like 1							97.0	76.0	83.0					19																	55591075		2203	4300	6503	SO:0001587	stop_gained	54869	0	0					g.chr19:55591075C>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.135C>A	chr19.hg19:g.55591075C>A	ENSP00000201647:p.Cys45*	0					EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000592824.1_3'UTR	p.C45*	NM_133180.2	NP_573441.2	1	2	3	2.033829	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	5	191	+			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Nonsense_Mutation	SNP	ENST00000201647.6	0	1	hg19	c.135C>A	CCDS12914.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.749039	0.96882	.	.	ENSG00000131037	ENST00000310075;ENST00000201647	.	.	.	3.85	2.8	0.32819	3.85	2.8	0.32819	.	0.439105	0.21813	N	0.068738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.1609	5.0513	0.14511	0.2046:0.6818:0.0:0.1136	.	.	.	.	X	27;45	.	ENSP00000201647:C45X	C	+	3	2	2	EPS8L1	60282887	60282887	0.159000	0.22864	0.999000	0.59377	0.838000	0.47535	0.283000	0.18846	0.732000	0.32470	0.313000	0.20887	TGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-3.358497	1	0.170000	NM_017729			33	33		172	169	1		1	1		0	0	51	0		1	9.961616e-01	0	7	0	41	0	33	172
PPP1R12C	54776	broad.mit.edu	37	19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											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)		ACGGGACTCTTAGGGCTGGGG	0.632																																						ENST00000263433.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1216-1218)Aag>Gag		protein phosphatase 1, regulatory subunit 12C							58.0	72.0	68.0					19																	55607246		2202	4300	6502	SO:0001583	missense	54776	0	0					g.chr19:55607246T>C	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.1216A>G	chr19.hg19:g.55607246T>C	ENSP00000263433:p.Lys406Glu	0					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	1	2	3	2.033829			BRCA - Breast invasive adenocarcinoma(297;0.209)	9	1231	-				Missense_Mutation	SNP	ENST00000263433.3	1	1	hg19	c.1216A>G	CCDS12916.1	1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978693	0.18812	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67171	-0.11;-0.13;-0.25	4.08	-6.62	0.01813	4.08	-6.62	0.01813	.	1.460060	0.04373	N	0.359422	T	0.53077	0.1774	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.0	T	0.35773	-0.9775	10	0.30078	T	0.28	.	8.0384	0.30506	0.0:0.2738:0.5401:0.186	.	332;406;406	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	E	406;406;332	ENSP00000263433:K406E;ENSP00000365573:K406E;ENSP00000387833:K332E	ENSP00000263433:K406E	K	-	1	0	0	PPP1R12C	60299058	60299058	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.092000	0.03366	-1.227000	0.02571	0.459000	0.35465	AAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	1	0	1		2	2	2	0		0	0	88		88	78	1	2.060000	-20.000000	1	0.170000	NM_017607			145	133		590	555	1		1	1		0	0	88	0		1	1	0	43	0	141	0	145	590
PPP1R12C	54776	broad.mit.edu	37	19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											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)		GAGCCCACCTCGGCGGGCGAT	0.697													C|||	2	0.000399361	0.0	0.0	5008	,	,		13116	0.001		0.001	False		,,,				2504	0.0					ENST00000263433.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(568-570)cGa>cAa		protein phosphatase 1, regulatory subunit 12C		C	GLN/ARG	1,4401		0,1,2200	18.0	24.0	22.0		569	4.7	1.0	19	dbSNP_134	22	13,8583		0,13,4285	no	missense	PPP1R12C	NM_017607.2	43	0,14,6485	TT,TC,CC		0.1512,0.0227,0.1077	benign	190/783	55623837	14,12984	2201	4298	6499	SO:0001583	missense	54776	103	121300	48				g.chr19:55623837C>T	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.569G>A	chr19.hg19:g.55623837C>T	ENSP00000263433:p.Arg190Gln	0					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	1	2	3	2.033829			BRCA - Breast invasive adenocarcinoma(297;0.209)	3	584	-				Missense_Mutation	SNP	ENST00000263433.3	1	1	hg19	c.569G>A	CCDS12916.1	1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102327	0.08731	2.27E-4	0.001512	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52057	0.68;0.68;0.68	4.71	4.71	0.59529	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.161907	0.42821	D	0.000641	T	0.20659	0.0497	N	0.04768	-0.165	0.38669	D	0.952273	P;P;P	0.48834	0.916;0.785;0.821	B;B;B	0.41088	0.347;0.197;0.298	T	0.33085	-0.9882	10	0.02654	T	1	.	9.0177	0.36179	0.0:0.9012:0.0:0.0988	.	116;190;190	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	190;190;116	ENSP00000263433:R190Q;ENSP00000365573:R190Q;ENSP00000387833:R116Q	ENSP00000263433:R190Q	R	-	2	0	0	PPP1R12C	60315649	60315649	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	2.806000	0.47947	2.633000	0.89246	0.561000	0.74099	CGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	0	0	1		2	2	2	0		0	0	33		33	30	1	2.060000	-2.743887	1	0.170000	NM_017607			33	32		124	119	1		1	1		0	0	33	0		1	9.999983e-01	0	13	0	72	0	33	124
TNNI3	7137	broad.mit.edu	37	19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A	rs397516358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNT1_ENST00000291901.8_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N|TNNT1_ENST00000356783.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	193					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557																																						ENST00000344887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(577-579)aaG>aaT		troponin I type 3 (cardiac)							125.0	127.0	126.0					19																	55663256		1974	4160	6134	SO:0001583	missense	7137	0	0					g.chr19:55663256C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.579G>T	chr19.hg19:g.55663256C>A	ENSP00000341838:p.Lys193Asn	0					TNNT1_ENST00000592920.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank	p.K193N	NM_000363.4	NP_000354.4	1	2	3	2.033829	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	8	721	-				Missense_Mutation	SNP	ENST00000344887.5	1	1	hg19	c.579G>T	CCDS42628.1	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799476	0.70567	.	.	ENSG00000129991	ENST00000344887	D	0.98028	-4.67	4.46	2.3	0.28687	4.46	2.3	0.28687	.	0.000000	0.64402	D	0.000005	D	0.98343	0.9450	M	0.82823	2.61	0.52099	D	0.999948	D	0.71674	0.998	D	0.78314	0.991	D	0.98117	1.0423	10	0.87932	D	0	-28.5851	10.1277	0.42661	0.0:0.8274:0.0:0.1726	.	193	P19429	TNNI3_HUMAN	N	193	ENSP00000341838:K193N	ENSP00000341838:K193N	K	-	3	2	2	TNNI3	60355068	60355068	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.068000	0.50018	0.447000	0.26695	-0.424000	0.05967	AAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				55	54		199	194	1		1	1		0	0	54	0		1	9.999018e-01	0	29	0	24	0	55	199
TNNI3	7137	broad.mit.edu	37	19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNT1_ENST00000291901.8_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C|TNNT1_ENST00000356783.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	192			R -> H (in RCM1). {ECO:0000269|PubMed:12531876}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572																																						ENST00000344887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(574-576)Cgc>Tgc		troponin I type 3 (cardiac)							117.0	119.0	119.0					19																	55663261		1976	4158	6134	SO:0001583	missense	7137	0	0					g.chr19:55663261G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.574C>T	chr19.hg19:g.55663261G>A	ENSP00000341838:p.Arg192Cys	0					TNNT1_ENST00000592920.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank	p.R192C	NM_000363.4	NP_000354.4	1	2	3	2.033829	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	8	716	-				Missense_Mutation	SNP	ENST00000344887.5	1	1	hg19	c.574C>T	CCDS42628.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635841	0.67130	.	.	ENSG00000129991	ENST00000344887	D	0.98120	-4.73	4.46	3.3	0.37823	4.46	3.3	0.37823	.	0.000000	0.64402	D	0.000017	D	0.98460	0.9487	M	0.84433	2.695	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.98378	1.0557	10	0.87932	D	0	-7.0285	11.1792	0.48618	0.0:0.0:0.7079:0.2921	.	192	P19429	TNNI3_HUMAN	C	192	ENSP00000341838:R192C	ENSP00000341838:R192C	R	-	1	0	0	TNNI3	60355073	60355073	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.153000	0.16323	2.213000	0.71641	0.491000	0.48974	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-3.848245	1	0.170000				52	52		193	189	1		1	1		0	0	54	0		1	9.999379e-01	0	29	0	28	0	52	193
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622																																						ENST00000344887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(544-546)gaG>gaT		troponin I type 3 (cardiac)							66.0	69.0	68.0					19																	55665401		2061	4216	6277	SO:0001583	missense	7137	0	0					g.chr19:55665401C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	chr19.hg19:g.55665401C>A	ENSP00000341838:p.Glu182Asp	0					TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	p.E182D	NM_000363.4	NP_000354.4	1	2	3	2.033829	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	7	688	-				Missense_Mutation	SNP	ENST00000344887.5	1	1	hg19	c.546G>T	CCDS42628.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	2	TNNI3	60357213	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000				110	106		468	452	1		1	1		0	0	114	0		1	9.999906e-01	0	36	0	36	0	110	468
TNNI3	7137	broad.mit.edu	37	19	55668952	55668952	+	Silent	SNP	C	C	T	rs397516361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A). {ECO:0000269|PubMed:15070570}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687																																						ENST00000344887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(4-6)gcG>gcA		troponin I type 3 (cardiac)							84.0	94.0	91.0					19																	55668952		1969	4167	6136	SO:0001819	synonymous_variant	7137	3	120914	42				g.chr19:55668952C>T	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	chr19.hg19:g.55668952C>T		0					DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR	p.A2A	NM_000363.4	NP_000354.4	1	2	3	2.033829	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	1	148	-				Silent	SNP	ENST00000344887.5	1	1	hg19	c.6G>A	CCDS42628.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1		2	2	2	0		0	0	148		148	144	1	2.060000	-3.032350	1	0.170000				172	168		712	699	1		1			0	0	148	0		1	0	0	0	0	0	0	172	712
SYT5	6861	broad.mit.edu	37	19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627																																						ENST00000354308.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(532-534)Gcc>Acc		synaptotagmin V							124.0	114.0	117.0					19																	55687085		2203	4300	6503	SO:0001583	missense	6861	0	0					g.chr19:55687085C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.532G>A	chr19.hg19:g.55687085C>T	ENSP00000346265:p.Ala178Thr	0					SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000592935.1_5'Flank	p.A178T	NM_003180.2	NP_003171.2	1	2	3	2.033829	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	5	901	-			B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	1	1	hg19	c.532G>A	CCDS12919.1	1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727184	0.15439	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67698	-0.28;-0.28	4.54	3.41	0.39046	4.54	3.41	0.39046	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.319059	0.33199	N	0.005177	T	0.22859	0.0552	N	0.00595	-1.35	0.32241	N	0.572744	B;B;B	0.21753	0.047;0.06;0.008	B;B;B	0.20955	0.032;0.005;0.01	T	0.46569	-0.9182	10	0.02654	T	1	.	3.4824	0.07607	0.2164:0.5961:0.0:0.1876	.	175;178;178	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	178;178;175	ENSP00000442896:A178T;ENSP00000346265:A178T	ENSP00000346265:A178T	A	-	1	0	0	SYT5	60378897	60378897	0.910000	0.30920	0.990000	0.47175	0.955000	0.61496	1.263000	0.33004	2.480000	0.83734	0.555000	0.69702	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	1	0	0		2	2	2	0		0	0	108		108	105	1	2.060000	-20.000000	1	0.170000	NM_003180			66	66		375	366	1		1	0		0	0	108	0		1	1.119371e-01	0	0	0	4	0	66	375
SYT5	6861	broad.mit.edu	37	19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	36					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617																																						ENST00000354308.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999751	0.990000	1.000000																										0				18						c.(106-108)Gtg>Atg		synaptotagmin V							23.0	24.0	23.0					19																	55689710		2203	4300	6503	SO:0001583	missense	6861	3	121374	28				g.chr19:55689710C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.106G>A	chr19.hg19:g.55689710C>T	ENSP00000346265:p.Val36Met	0					SYT5_ENST00000537500.1_Missense_Mutation_p.V36M|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron	p.V36M	NM_003180.2	NP_003171.2	1	2	3	2.033829	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	3	475	-			B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	0	1	hg19	c.106G>A	CCDS12919.1	1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969891	0.53614	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.55413	0.52;0.52	4.06	-4.23	0.03789	4.06	-4.23	0.03789	.	0.438834	0.23508	N	0.047428	T	0.26484	0.0647	N	0.24115	0.695	0.32416	N	0.549983	B;P	0.46987	0.275;0.888	B;B	0.38842	0.016;0.283	T	0.38200	-0.9672	10	0.46703	T	0.11	.	4.6511	0.12596	0.1177:0.2183:0.5288:0.1352	.	36;36	Q4FD32;O00445	.;SYT5_HUMAN	M	36	ENSP00000442896:V36M;ENSP00000346265:V36M	ENSP00000346265:V36M	V	-	1	0	0	SYT5	60381522	60381522	0.030000	0.19436	0.904000	0.35570	0.929000	0.56500	-0.074000	0.11450	-0.275000	0.09219	0.561000	0.74099	GTG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_003180			18	18		90	87	0		1	0		0	0	9	0		9.999869e-01	8.169533e-02	0	1	0	2	0	18	90
PTPRH	5794	broad.mit.edu	37	19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T	rs367681827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1004	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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)		CAGCCACTGCCGAAGCATCCT	0.627																																						ENST00000376350.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999160	0.990000	1.000000																										0				67						c.(3010-3012)cGg>cAg		protein tyrosine phosphatase, receptor type, H		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	47.0	50.0		2477,3011	4.2	0.0	19		50	0,8600		0,0,4300	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	826/938,1004/1116	55696921	1,13005	2203	4300	6503	SO:0001583	missense	5794	1	121412	30				g.chr19:55696921C>T		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.3011G>A	chr19.hg19:g.55696921C>T	ENSP00000365528:p.Arg1004Gln	0					PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	p.R1004Q	NM_002842.3	NP_002833.3	1	2	3	2.033829	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	18	3033	-		Renal(1328;0.245)	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	1	1	hg19	c.3011G>A	CCDS33110.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568486	0.65651	2.27E-4	0.0	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84070	-1.8;-1.8	5.21	4.18	0.49190	5.21	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.280866	0.19786	N	0.106116	D	0.86197	0.5875	L	0.37466	1.105	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.86387	0.1733	10	0.56958	D	0.05	.	13.0867	0.59144	0.0:0.9202:0.0:0.0798	.	826;1004	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1004;826	ENSP00000365528:R1004Q;ENSP00000263434:R826Q	ENSP00000263434:R826Q	R	-	2	0	0	PTPRH	60388733	60388733	0.090000	0.21635	0.040000	0.18447	0.275000	0.26752	2.734000	0.47368	1.357000	0.45904	0.650000	0.86243	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-3.019007	1	0.170000				28	28		192	190	1		1	1		0	0	48	0		1	9.997808e-01	0	31	0	62	0	28	192
PTPRH	5794	broad.mit.edu	37	19	55708507	55708507	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T478T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7. {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)			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)		AGAGGCTCTGCGTGGAACTGG	0.547																																						ENST00000376350.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1966-1968)acG>acA		protein tyrosine phosphatase, receptor type, H							123.0	96.0	105.0					19																	55708507		2203	4300	6503	SO:0001819	synonymous_variant	5794	4	121412	39				g.chr19:55708507C>T		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.1968G>A	chr19.hg19:g.55708507C>T		0					PTPRH_ENST00000263434.5_Silent_p.T478T|PTPRH_ENST00000588559.1_5'UTR	p.T656T	NM_002842.3	NP_002833.3	1	2	3	2.033829	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	9	1990	-		Renal(1328;0.245)	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	1	1	hg19	c.1968G>A	CCDS33110.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.993130	1	0.170000				37	35		167	164	1		1	1		0	0	55	0		1	9.999402e-01	0	27	0	44	0	37	167
PTPRH	5794	broad.mit.edu	37	19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	570	Fibronectin type-III 7. {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)			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)		TTCTGGAGATCTGTGACCTCA	0.557																																						ENST00000376350.3	1.000000	0.370000	8.700000e-01	4.800000e-01	0.610000	0.657081	0.610000	0.570000																										0				67						c.(1708-1710)Gat>Aat		protein tyrosine phosphatase, receptor type, H							62.0	66.0	65.0					19																	55708767		2203	4300	6503	SO:0001583	missense	5794	0	0					g.chr19:55708767C>T		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.1708G>A	chr19.hg19:g.55708767C>T	ENSP00000365528:p.Asp570Asn	0					PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N|PTPRH_ENST00000588559.1_5'UTR	p.D570N	NM_002842.3	NP_002833.3	1	2	3	2.033829	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	9	1730	-		Renal(1328;0.245)	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	1	1	hg19	c.1708G>A	CCDS33110.1	0	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133908	0.09032	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52057	0.68;0.68	4.94	-3.87	0.04218	4.94	-3.87	0.04218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24122	0.0584	L	0.39020	1.185	0.09310	N	1	B;B;B	0.19331	0.003;0.002;0.035	B;B;B	0.18871	0.01;0.004;0.023	T	0.34675	-0.9819	9	0.05620	T	0.96	.	1.3223	0.02118	0.128:0.3414:0.2322:0.2984	.	392;392;570	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	N	570;392	ENSP00000365528:D570N;ENSP00000263434:D392N	ENSP00000263434:D392N	D	-	1	0	0	PTPRH	60400579	60400579	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.170000	0.09897	-0.451000	0.07097	0.655000	0.94253	GAT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.325361	1	0.170000				19	19		369	360	0		1	1		0	0	84	0		9.999893e-01	9.395121e-01	0	9	0	85	0	19	369
PTPRH	5794	broad.mit.edu	37	19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	314	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)			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)		CAGGTCAGGGCGATGGAGCTG	0.582																																						ENST00000376350.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(940-942)Gcc>Acc		protein tyrosine phosphatase, receptor type, H							106.0	88.0	94.0					19																	55713637		2203	4300	6503	SO:0001583	missense	5794	4	121412	40				g.chr19:55713637C>T		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.940G>A	chr19.hg19:g.55713637C>T	ENSP00000365528:p.Ala314Thr	0					PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T|PTPRH_ENST00000588559.1_5'UTR	p.A314T	NM_002842.3	NP_002833.3	1	2	3	2.033829	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	6	962	-		Renal(1328;0.245)	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	1	1	hg19	c.940G>A	CCDS33110.1	1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.534429	0.00145	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54479	0.57;0.57	3.89	-1.5	0.08691	3.89	-1.5	0.08691	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19485	0.0468	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.16396	0.004;0.003;0.017	B;B;B	0.12837	0.008;0.003;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	4.4153	0.11454	0.1487:0.1943:0.0:0.657	.	136;136;314	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	T	314;136	ENSP00000365528:A314T;ENSP00000263434:A136T	ENSP00000263434:A136T	A	-	1	0	0	PTPRH	60405449	60405449	0.751000	0.28327	0.088000	0.20740	0.011000	0.07611	0.629000	0.24538	-0.434000	0.07275	-2.769000	0.00120	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000				62	60		341	334	1		1	1		0	0	90	0		1	9.991515e-01	0	24	0	36	0	62	341
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					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)			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)		GTGCTCTGTCCGCACCAGGGC	0.687																																						ENST00000255631.5	1.000000	0.540000	1	8.000000e-01	0.990000	0.931384	0.990000	1.000000																										0				8						c.(844-846)cGg>cAg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							18.0	19.0	19.0					19																	55777302		2201	4298	6499	SO:0001583	missense	23640	3	120982	30				g.chr19:55777302C>T		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.845G>A	chr19.hg19:g.55777302C>T	ENSP00000255631:p.Arg282Gln	0					HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	1	2	3	2.033829	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	7	1155	-			B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	0	1	hg19	c.845G>A	CCDS33111.1	1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	0	HSPBP1	60469114	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-3.224258	1	0.170000	NM_012267			8	8		80	80	1		1	1		0	0	11	0		9.904951e-01	9.998944e-01	0	29	0	180	0	8	80
BRSK1	84446	broad.mit.edu	37	19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592																																						ENST00000309383.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(631-633)Cgg>Tgg		BR serine/threonine kinase 1							82.0	82.0	82.0					19																	55805718		2203	4300	6503	SO:0001583	missense	84446	0	0					g.chr19:55805718C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.631C>T	chr19.hg19:g.55805718C>T	ENSP00000310649:p.Arg211Trp	0					BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W	p.R211W	NM_032430.1	NP_115806.1	1	2	3	2.033829	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	7	908	+		Renal(1328;0.245)	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	1	1	hg19	c.631C>T	CCDS12921.1	1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050648	0.75960	.	.	ENSG00000160469	ENST00000309383	T	0.26223	1.75	4.79	2.43	0.29744	4.79	2.43	0.29744	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	T	0.39035	-0.9633	10	0.87932	D	0	.	12.2446	0.54563	0.3075:0.6925:0.0:0.0	.	211;227	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	211	ENSP00000310649:R211W	ENSP00000310649:R211W	R	+	1	2	2	BRSK1	60497530	60497530	0.966000	0.33281	1.000000	0.80357	0.967000	0.64934	0.456000	0.21859	1.117000	0.41842	0.561000	0.74099	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_032430			40	39		156	147	1		1	0		0	0	52	0		1	7.729368e-01	0	0	0	13	0	40	156
TMEM150B	284417	broad.mit.edu	37	19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692																																						ENST00000326652.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				3						c.(625-627)tgC>tgA		transmembrane protein 150B							24.0	29.0	27.0					19																	55824302		2135	4248	6383	SO:0001587	stop_gained	284417	1	121084	24				g.chr19:55824302G>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.627C>A	chr19.hg19:g.55824302G>T	ENSP00000320757:p.Cys209*	0					TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*|CTD-2105E13.14_ENST00000596786.1_RNA	p.C209*	NM_001282011.1	NP_001268940.1	1	2	3	2.033829	A6NC51	T150B_HUMAN		8	809	-			B7ZW71	Nonsense_Mutation	SNP	ENST00000326652.4	0	1	hg19	c.627C>A	CCDS42629.1	1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839759	0.51057	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	.	.	.	4.55	2.4	0.29515	4.55	2.4	0.29515	.	0.319446	0.33854	N	0.004487	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-31.8358	7.383	0.26866	0.2106:0.0:0.7894:0.0	.	.	.	.	X	209	.	ENSP00000320757:C209X	C	-	3	2	2	TMEM150B	60516114	60516114	0.498000	0.26075	0.996000	0.52242	0.190000	0.23558	0.360000	0.20250	0.622000	0.30249	-0.350000	0.07774	TGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_001085488			24	24		95	94	1		1	1		0	0	26	0		9.999999e-01	9.998913e-01	0	29	0	34	0	24	95
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652																																						ENST00000255613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(22-24)Gca>Tca		suppressor of variegation 4-20 homolog 2 (Drosophila)							107.0	92.0	97.0					19																	55853326		2203	4300	6503	SO:0001583	missense	84787	0	0					g.chr19:55853326G>T	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>T	chr19.hg19:g.55853326G>T	ENSP00000255613:p.Ala8Ser	0					SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	p.A8S	NM_032701.3	NP_116090.2	1	2	3	2.033829	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	2	270	+	Breast(117;0.191)		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	1	1	hg19	c.22G>T	CCDS12922.1	1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841318	0.71488	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.63355	0.2504	L	0.39147	1.195	0.44694	D	0.997688	D	0.67145	0.996	D	0.65874	0.939	T	0.64715	-0.6342	9	0.59425	D	0.04	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	S	8	.	ENSP00000255613:A8S	A	+	1	0	0	SUV420H2	60545138	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_032701			110	108		500	492	1		1	1		0	0	113	0		1	9.790615e-01	0	9	0	21	0	110	500
SUV420H2	84787	broad.mit.edu	37	19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	193	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667																																						ENST00000255613.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(577-579)cCt>cAt		suppressor of variegation 4-20 homolog 2 (Drosophila)							113.0	95.0	101.0					19																	55857588		2203	4300	6503	SO:0001583	missense	84787	0	0					g.chr19:55857588C>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.578C>A	chr19.hg19:g.55857588C>A	ENSP00000255613:p.Pro193His	0						p.P193H	NM_032701.3	NP_116090.2	1	2	3	2.033829	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	7	826	+	Breast(117;0.191)		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	1	1	hg19	c.578C>A	CCDS12922.1	1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615474	0.66672	.	.	ENSG00000133247	ENST00000255613	D	0.86694	-2.16	3.93	3.93	0.45458	3.93	3.93	0.45458	SET domain (3);	0.000000	0.64402	D	0.000016	D	0.91526	0.7324	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.91151	0.4953	10	0.41790	T	0.15	-17.7373	15.2907	0.73865	0.0:1.0:0.0:0.0	.	193	Q86Y97	SV422_HUMAN	H	193	ENSP00000255613:P193H	ENSP00000255613:P193H	P	+	2	0	0	SUV420H2	60549400	60549400	0.935000	0.31712	0.902000	0.35471	0.572000	0.35998	7.140000	0.77322	2.186000	0.69663	0.655000	0.94253	CCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_032701			73	73		341	335	1		1	1		0	0	81	0		1	8.502515e-01	0	11	0	7	0	73	341
RPL28	6158	broad.mit.edu	37	19	55899621	55899621	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55899621G>A	ENST00000344063.2	+	5	964	c.335G>A	c.(334-336)cGc>cAc	p.R112H	RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000560583.1_3'UTR			P46779	RL28_HUMAN	ribosomal protein L28	112					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCAGCCATCCGCAGGGCCAGC	0.667																																						ENST00000344063.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998935	0.990000	1.000000																										0				6						c.(334-336)cGc>cAc		ribosomal protein L28							12.0	16.0	15.0					19																	55899621		2190	4275	6465	SO:0001583	missense	6158	0	0					g.chr19:55899621G>A	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.335G>A	chr19.hg19:g.55899621G>A	ENSP00000342787:p.Arg112His	0					RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000560583.1_3'UTR	p.R112H			1	2	3	2.033829	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	5	964	+	Breast(117;0.191)	Renal(1328;0.245)	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	0	1	hg19	c.335G>A	CCDS12924.1	1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577856	0.65878	.	.	ENSG00000108107	ENST00000344063	T	0.46819	0.86	3.44	3.44	0.39384	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.74467	2.265	0.80722	D	1	B	0.25235	0.121	B	0.25405	0.06	T	0.56535	-0.7963	10	0.56958	D	0.05	.	13.1887	0.59697	0.0:0.0:1.0:0.0	.	112	P46779	RL28_HUMAN	H	112	ENSP00000342787:R112H	ENSP00000342787:R112H	R	+	2	0	0	RPL28	60591433	60591433	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.890000	0.92477	1.864000	0.54056	0.462000	0.41574	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.939900	1	0.170000	NM_000991			11	11		48	45	0		1	1		0	0	8	0		9.984819e-01	1	0	1353	0	3771	0	11	48
SAFB2	9667	broad.mit.edu	37	19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	753	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)			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)		GCACGATATCGGTCCTCCATT	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4	1.000000	0.260000	7.500000e-01	3.700000e-01	0.520000	0.568588	0.520000	0.500000																										0				29						c.(2257-2259)Cga>Tga		scaffold attachment factor B2							153.0	117.0	129.0					19																	5592849		2203	4300	6503	SO:0001587	stop_gained	9667	0	0					g.chr19:5592849G>A	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.2257C>T	chr19.hg19:g.5592849G>A	ENSP00000252542:p.Arg753*	0						p.R753*	NM_014649.2	NP_055464.1	1	2	3	2.010022	Q14151	SAFB2_HUMAN		16	2521	-			B4DKG3|Q8TB13	Nonsense_Mutation	SNP	ENST00000252542.4	0	1	hg19	c.2257C>T	CCDS32879.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.247483	0.97412	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.7	2.52	0.30459	4.7	2.52	0.30459	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.424	12.9125	0.58187	0.0:0.0:0.5736:0.4264	.	.	.	.	X	753	.	ENSP00000252542:R753X	R	-	1	2	2	SAFB2	5543849	5543849	0.784000	0.28713	0.872000	0.34217	0.114000	0.19823	0.052000	0.14163	0.155000	0.19261	-0.364000	0.07487	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	0	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-3.176549	1	0.170000	NM_014649			10	10		229	221	0		1	0		0	0	30	0		9.965031e-01	9.597113e-01	0	1	0	128	0	10	229
UBE2S	27338	broad.mit.edu	37	19	55913000	55913000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	ENST00000264552.9	-	4	660	c.473C>T	c.(472-474)gCc>gTc	p.A158V	CTD-2105E13.13_ENST00000589101.1_lincRNA|UBE2S_ENST00000592570.1_5'Flank|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	158					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGCCCGCCGGCGCCCCCGTG	0.731																																						ENST00000264552.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				1						c.(472-474)gCc>gTc		ubiquitin-conjugating enzyme E2S							4.0	6.0	6.0					19																	55913000		1774	3695	5469	SO:0001583	missense	27338	0	0					g.chr19:55913000G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.473C>T	chr19.hg19:g.55913000G>A	ENSP00000264552:p.Ala158Val	0					CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron|UBE2S_ENST00000592570.1_5'Flank	p.A158V	NM_014501.2	NP_055316.2	1	2	3	2.033829	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	4	660	-	Breast(117;0.155)		Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	0	1	hg19	c.473C>T	CCDS33114.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414335	0.25465	.	.	ENSG00000108106	ENST00000264552	T	0.58797	0.31	4.24	4.24	0.50183	4.24	4.24	0.50183	Ubiquitin-conjugating enzyme/RWD-like (1);	0.230253	0.44688	D	0.000439	T	0.39600	0.1084	N	0.12569	0.235	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.33940	T	0.23	-17.454	14.5214	0.67853	0.0:0.0:1.0:0.0	.	158	Q16763	UBE2S_HUMAN	V	158	ENSP00000264552:A158V	ENSP00000264552:A158V	A	-	2	0	0	UBE2S	60604812	60604812	0.556000	0.26538	0.117000	0.21633	0.156000	0.22039	4.405000	0.59741	2.095000	0.63458	0.561000	0.74099	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	1	0	1		2	2	2	0		0	0	17		17	20	1	2.060000	-20.000000	1	0.170000	NM_014501			24	21		100	95	0		1	1		0	0	17	0		9.999997e-01	8.395896e-01	0	9	0	7	0	24	100
ISOC2	79763	broad.mit.edu	37	19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000425675.2	-	6	620	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ISOC2_ENST00000438389.2_Missense_Mutation_p.P117L|ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	187					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCTGGGGCGGGCTCCTTGAT	0.602																																						ENST00000425675.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999860	0.990000	1.000000																										0				7						c.(559-561)cCc>cTc		isochorismatase domain containing 2							73.0	72.0	72.0					19																	55964733		2203	4300	6503	SO:0001583	missense	79763	0	0					g.chr19:55964733G>A	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.560C>T	chr19.hg19:g.55964733G>A	ENSP00000401726:p.Pro187Leu	0					ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000438389.2_Missense_Mutation_p.P117L	p.P187L			1	2	3	2.033829	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	6	620	-	Breast(117;0.155)		Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	1	1	hg19	c.560C>T	CCDS46195.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854128	0.51270	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.59	4.59	0.56863	4.59	4.59	0.56863	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.17474	0.49	0.80722	D	1	B;B;B	0.29766	0.144;0.256;0.165	B;B;B	0.32928	0.155;0.043;0.044	T	0.42137	-0.9469	9	0.37606	T	0.19	-9.5899	15.2799	0.73773	0.0:0.0:1.0:0.0	.	117;187;203	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	L	203;187;117	.	ENSP00000085068:P203L	P	-	2	0	0	ISOC2	60656545	60656545	1.000000	0.71417	0.932000	0.37286	0.660000	0.38997	8.136000	0.89610	2.275000	0.75901	0.555000	0.69702	CCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_024710			21	21		108	101	1		1	1		0	0	14	0		9.999977e-01	1	0	151	0	328	0	21	108
ZNF628	89887	broad.mit.edu	37	19	55992598	55992598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000598519.1	+	3	591	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	13					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		GCGGACATGGCGCCGGCCTCT	0.692																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				7						c.(37-39)gCg>gTg		zinc finger protein 628							6.0	7.0	7.0					19																	55992598		2151	4180	6331	SO:0001583	missense	89887	0	0					g.chr19:55992598C>T	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.38C>T	chr19.hg19:g.55992598C>T	ENSP00000469591:p.Ala13Val	0					ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V	p.A13V			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	591	+	Breast(117;0.155)		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	0	1	hg19	c.38C>T	CCDS33116.3	1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987732	0.35036	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.68	2.61	0.31194	3.68	2.61	0.31194	.	0.401667	0.17889	U	0.158600	T	0.04497	0.0123	N	0.08118	0	0.23356	N	0.997846	B	0.13594	0.008	B	0.06405	0.002	T	0.37009	-0.9724	10	0.46703	T	0.11	-6.259	9.5362	0.39224	0.0:0.8899:0.0:0.1101	.	9	Q5EBL2	ZN628_HUMAN	V	9	ENSP00000375598:A9V	ENSP00000375598:A9V	A	+	2	0	0	ZNF628	60684410	60684410	0.139000	0.22563	0.978000	0.43139	0.504000	0.33889	0.442000	0.21628	0.876000	0.35872	0.289000	0.19496	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	XM_058964			13	13		39	39	0		1	0		0	0	9	0		9.997642e-01	3.859282e-01	0	1	0	4	0	13	39
ZNF628	89887	broad.mit.edu	37	19	55992868	55992868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000598519.1	+	3	861	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	103					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		GCCTTCAAGCGCTCCTCTCTG	0.667																																						ENST00000598519.1	1.000000	0.200000	8.100000e-01	3.100000e-01	0.470000	0.537004	0.470000	0.410000																										0				7						c.(307-309)cGc>cAc		zinc finger protein 628							43.0	42.0	43.0					19																	55992868		2203	4300	6503	SO:0001583	missense	89887	0	0					g.chr19:55992868G>A	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.308G>A	chr19.hg19:g.55992868G>A	ENSP00000469591:p.Arg103His	0					ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H	p.R103H			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	861	+	Breast(117;0.155)		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	0	1	hg19	c.308G>A	CCDS33116.3	0	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752518	0.69533	.	.	ENSG00000197483	ENST00000391718	T	0.17854	2.25	3.56	3.56	0.40772	3.56	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.258407	0.25981	U	0.027075	T	0.20901	0.0503	N	0.13327	0.33	0.36163	D	0.848244	D	0.89917	1.0	D	0.77004	0.989	T	0.13926	-1.0491	10	0.15066	T	0.55	-26.768	13.0316	0.58845	0.0:0.0:1.0:0.0	.	99	Q5EBL2	ZN628_HUMAN	H	99	ENSP00000375598:R99H	ENSP00000375598:R99H	R	+	2	0	0	ZNF628	60684680	60684680	0.006000	0.16342	1.000000	0.80357	0.765000	0.43378	1.379000	0.34340	2.001000	0.58596	0.491000	0.48974	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	0	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-9.168823	1	0.170000	XM_058964			7	7		191	190	0		1	1		0	0	24	0		9.808315e-01	2.219202e-01	0	3	0	19	0	7	191
ZNF628	89887	broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A	rs369974817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		CCGGACTGCCCCAAGGCCTTC	0.667																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999910	0.990000	1.000000																										0				7						c.(460-462)cCc>cAc		zinc finger protein 628							32.0	33.0	33.0					19																	55993021		2203	4297	6500	SO:0001583	missense	89887	0	0					g.chr19:55993021C>A	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.461C>A	chr19.hg19:g.55993021C>A	ENSP00000469591:p.Pro154His	0					ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H	p.P154H			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	1014	+	Breast(117;0.155)		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	1	1	hg19	c.461C>A	CCDS33116.3	1	.	.	.	.	.	.	.	.	.	.	.	8.323	0.824725	0.16678	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.62	1.44	0.22558	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.14056	0.0340	L	0.38531	1.155	0.22842	N	0.998663	D	0.67145	0.996	D	0.64237	0.923	T	0.04333	-1.0959	10	0.72032	D	0.01	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	H	150	ENSP00000375598:P150H	ENSP00000375598:P150H	P	+	2	0	0	ZNF628	60684833	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-3.150909	1	0.170000	XM_058964			31	31		185	184	0		1	1		0	0	39	0		1	5.822559e-01	0	5	0	8	0	31	185
ZNF628	89887	broad.mit.edu	37	19	55994231	55994231	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	ZNF628_ENST00000391718.2_Silent_p.R553R|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	557					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		GTCGCCACCGCCACGTGCACA	0.701																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1669-1671)cgC>cgT		zinc finger protein 628							22.0	24.0	23.0					19																	55994231		2201	4296	6497	SO:0001819	synonymous_variant	89887	0	0					g.chr19:55994231C>T	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.1671C>T	chr19.hg19:g.55994231C>T		0					NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.R553R	p.R557R			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	2224	+	Breast(117;0.155)		Q86X34	Silent	SNP	ENST00000598519.1	1	1	hg19	c.1671C>T	CCDS33116.3	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	XM_058964			44	44		190	186	0		1	0		0	0	32	0		1	1.679905e-01	0	1	0	3	0	44	190
ZNF628	89887	broad.mit.edu	37	19	55994536	55994536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000598519.1	+	3	2529	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	659	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		CCTGCCGCCGGCCCCCAGCCC	0.726																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				7						c.(1975-1977)gGc>gAc		zinc finger protein 628							3.0	4.0	4.0					19																	55994536		1914	3831	5745	SO:0001583	missense	89887	0	0					g.chr19:55994536G>A	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.1976G>A	chr19.hg19:g.55994536G>A	ENSP00000469591:p.Gly659Asp	0					NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D	p.G659D			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	2529	+	Breast(117;0.155)		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	1	1	hg19	c.1976G>A	CCDS33116.3	1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800170	0.31869	.	.	ENSG00000197483	ENST00000391718	T	0.02974	4.09	2.47	-0.112	0.13572	2.47	-0.112	0.13572	.	1.492050	0.05145	U	0.494924	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.21546	0.035	T	0.46762	-0.9168	10	0.62326	D	0.03	-1.864	4.449	0.11611	0.0:0.3508:0.4254:0.2238	.	655	Q5EBL2	ZN628_HUMAN	D	655	ENSP00000375598:G655D	ENSP00000375598:G655D	G	+	2	0	0	ZNF628	60686348	60686348	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.216000	0.32443	0.070000	0.16634	-0.314000	0.08810	GGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	XM_058964			16	15		51	48	0		1			0	0	12	0		9.999501e-01	0	0	0	0	0	0	16	51
ZNF628	89887	broad.mit.edu	37	19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T	rs373922538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	837	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		CTCCAGCCAGCGCAGGAGGTG	0.657																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(2509-2511)gCg>gTg		zinc finger protein 628			VAL/ALA	0,4406		0,0,2203	52.0	61.0	58.0		2498	2.9	0.8	19		58	1,8599		0,1,4299	no	missense	ZNF628	NM_033113.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	833/1056	55995070	1,13005	2203	4300	6503	SO:0001583	missense	89887	1	121396	32				g.chr19:55995070C>T	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.2510C>T	chr19.hg19:g.55995070C>T	ENSP00000469591:p.Ala837Val	0					NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V	p.A837V			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	3063	+	Breast(117;0.155)		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	1	1	hg19	c.2510C>T	CCDS33116.3	1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046309	0.36085	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.09445	2.98	2.92	2.92	0.33932	2.92	2.92	0.33932	.	.	.	.	.	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23852	0.049	T	0.25950	-1.0117	9	0.87932	D	0	.	9.4682	0.38826	0.0:1.0:0.0:0.0	.	833	Q5EBL2	ZN628_HUMAN	V	833	ENSP00000375598:A833V	ENSP00000375598:A833V	A	+	2	0	0	ZNF628	60686882	60686882	0.359000	0.24955	0.776000	0.31678	0.778000	0.44026	1.175000	0.31944	1.638000	0.50547	0.450000	0.29827	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0		2	2	2	0		0	0	90		90	87	1	2.060000	-20.000000	1	0.170000	XM_058964			114	113		377	364	1		1	1		0	0	90	0		1	9.411407e-01	0	4	0	14	0	114	377
ZNF628	89887	broad.mit.edu	37	19	55995119	55995119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	ZNF628_ENST00000391718.2_Silent_p.T849T|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	853	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		AAGTAACCACGGTCCAGCTCC	0.657																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(2557-2559)acG>acA		zinc finger protein 628							52.0	59.0	57.0					19																	55995119		2203	4299	6502	SO:0001819	synonymous_variant	89887	0	0					g.chr19:55995119G>A	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.2559G>A	chr19.hg19:g.55995119G>A		0					NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T849T	p.T853T			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	3112	+	Breast(117;0.155)		Q86X34	Silent	SNP	ENST00000598519.1	1	1	hg19	c.2559G>A	CCDS33116.3	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-3.727787	1	0.170000	XM_058964			78	77		278	273	1		1	1		0	0	68	0		1	9.917022e-01	0	7	0	22	0	78	278
ZNF628	89887	broad.mit.edu	37	19	55995125	55995125	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	ZNF628_ENST00000391718.2_Silent_p.Q851Q|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	855	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		CCACGGTCCAGCTCCAGCCAG	0.657																																						ENST00000598519.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(2563-2565)caG>caA		zinc finger protein 628							49.0	56.0	54.0					19																	55995125		2203	4299	6502	SO:0001819	synonymous_variant	89887	0	0					g.chr19:55995125G>A	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.2565G>A	chr19.hg19:g.55995125G>A		0					NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q851Q	p.Q855Q			1	2	3	2.033829	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	3	3118	+	Breast(117;0.155)		Q86X34	Silent	SNP	ENST00000598519.1	1	1	hg19	c.2565G>A	CCDS33116.3	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	XM_058964			74	74		251	246	0		1	1		0	0	59	0		1	9.946242e-01	0	7	0	23	0	74	251
SBK2	646643	broad.mit.edu	37	19	56042645	56042645	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662																																						ENST00000413299.1	1.000000	0.450000	1	6.300000e-01	0.870000	0.837050	0.870000	1.000000																										0				9						c.(319-321)ttC>ttT		SH3 domain binding kinase family, member 2							37.0	44.0	42.0					19																	56042645		2129	4239	6368	SO:0001819	synonymous_variant	646643	0	0					g.chr19:56042645G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.321C>T	chr19.hg19:g.56042645G>A		0					SBK2_ENST00000344158.3_Silent_p.F107F	p.F107F	NM_001101401.2	NP_001094871.2	1	2	3	2.033829	P0C263	SBK2_HUMAN		3	358	-				Silent	SNP	ENST00000413299.1	0	1	hg19	c.321C>T	CCDS42631.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-15.519110	1	0.170000	NM_001101401			11	11		150	145	0		1	0		0	0	16	0		9.982325e-01	0	0	0	0	1	0	11	150
FIZ1	84922	broad.mit.edu	37	19	56104155	56104155	+	Silent	SNP	G	G	A	rs368962867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	ENST00000221665.3	-	3	1241	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	384					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCCCGCCGCCCTCACCGT	0.766																																						ENST00000221665.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1150-1152)ggC>ggT		FLT3-interacting zinc finger 1		G		0,2658		0,0,1329	6.0	10.0	9.0		1152	-2.3	0.2	19		9	1,6103		0,1,3051	no	coding-synonymous	FIZ1	NM_032836.2		0,1,4380	AA,AG,GG		0.0164,0.0,0.0114		384/497	56104155	1,8761	1329	3052	4381	SO:0001819	synonymous_variant	84922	1	112210	22				g.chr19:56104155G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1152C>T	chr19.hg19:g.56104155G>A		0						p.G384G	NM_032836.2	NP_116225.2	1	2	3	2.033829	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	3	1241	-			A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	0	1	hg19	c.1152C>T	CCDS12928.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	1	0	1		2	2	2	0		0	0	8		8	7	1	2.060000	-20.000000	1	0.170000	NM_032836			33	30		129	112	0		1			0	0	8	0		1	0	0	0	0	0	0	33	129
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000221665.3_5'Flank|FIZ1_ENST00000592585.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652																																						ENST00000591046.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S11S(1)	large_intestine(1)	10						c.(31-33)tcG>tcA		zinc finger protein 524							41.0	45.0	43.0					19																	56113511		2203	4300	6503	SO:0001819	synonymous_variant	147807	0	0					g.chr19:56113511G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.33G>A	chr19.hg19:g.56113511G>A		0					FIZ1_ENST00000592585.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000221665.3_5'Flank	p.S11S			1	2	3	2.033829	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	1	267	+			Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	1	1	hg19	c.33G>A	CCDS12929.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_153219			98	98		370	364	1		1	1		0	0	76	0		1	1	0	33	0	93	0	98	370
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.T212T			Q96C55	ZN524_HUMAN	zinc finger protein 524	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T212T(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706																																						ENST00000591046.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T212T(1)	lung(1)	10						c.(634-636)acG>acA		zinc finger protein 524							16.0	15.0	15.0					19																	56114114		2147	4218	6365	SO:0001819	synonymous_variant	147807	0	0					g.chr19:56114114G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.636G>A	chr19.hg19:g.56114114G>A		0					ZNF524_ENST00000301073.3_Silent_p.T212T|ZNF865_ENST00000568956.1_5'Flank	p.T212T			1	2	3	2.033829	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	1	870	+			Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	1	1	hg19	c.636G>A	CCDS12929.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_153219			27	27		110	107	1		1	1		0	0	17	0		1	9.999964e-01	0	35	0	54	0	27	110
CCDC106	29903	broad.mit.edu	37	19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	78						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607																																						ENST00000586790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(232-234)cGc>cAc		coiled-coil domain containing 106							73.0	65.0	68.0					19																	56160870		2203	4300	6503	SO:0001583	missense	29903	2	121412	30				g.chr19:56160870G>A	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.233G>A	chr19.hg19:g.56160870G>A	ENSP00000465757:p.Arg78His	0					CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H	p.R78H			1	2	3	2.033829	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	3	1137	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	1	1	hg19	c.233G>A	CCDS33118.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717725	0.89205	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.48642	1.525	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.72147	-0.4378	9	0.66056	D	0.02	-7.3931	14.0108	0.64495	0.0:0.0:1.0:0.0	.	78	Q9BWC9	CC106_HUMAN	H	78	.	ENSP00000309681:R78H	R	+	2	0	0	CCDC106	60852682	60852682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.256000	0.72473	1.910000	0.55303	0.462000	0.41574	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_013301			41	39		174	172	1		1	1		0	0	49	0		1	9.999996e-01	0	21	0	80	0	41	174
CCDC106	29903	broad.mit.edu	37	19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	228						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662																																						ENST00000586790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(682-684)gAg>gCg		coiled-coil domain containing 106							52.0	59.0	56.0					19																	56163952		2203	4300	6503	SO:0001583	missense	29903	0	0					g.chr19:56163952A>C	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.683A>C	chr19.hg19:g.56163952A>C	ENSP00000465757:p.Glu228Ala	0					CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A	p.E228A			1	2	3	2.033829	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	5	1587	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	1	1	hg19	c.683A>C	CCDS33118.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124616	0.77436	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.48	3.48	0.39840	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.54323	1.7	0.58432	D	0.999995	D	0.67145	0.996	D	0.79784	0.993	T	0.71286	-0.4638	9	0.66056	D	0.02	0.0717	11.4314	0.50043	1.0:0.0:0.0:0.0	.	228	Q9BWC9	CC106_HUMAN	A	228	.	ENSP00000309681:E228A	E	+	2	0	0	CCDC106	60855764	60855764	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	5.552000	0.67281	1.584000	0.49913	0.454000	0.30748	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_013301			84	84		363	352	0		1	1		0	0	64	0		1	9.999840e-01	0	10	0	61	0	84	363
U2AF2	11338	broad.mit.edu	37	19	56172411	56172411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56172411T>C	ENST00000308924.4	+	5	382	c.342T>C	c.(340-342)ggT>ggC	p.G114G	U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Silent_p.G114G			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	114					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)			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)		AAGCTGCGGGTCAGATTCCAG	0.597																																						ENST00000308924.4	1.000000	0.230000	6.800000e-01	3.200000e-01	0.440000	0.512096	0.440000	0.410000																										0				21						c.(340-342)ggT>ggC		U2 small nuclear RNA auxiliary factor 2							68.0	67.0	68.0					19																	56172411		2203	4300	6503	SO:0001819	synonymous_variant	11338	0	0					g.chr19:56172411T>C	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.342T>C	chr19.hg19:g.56172411T>C		0					U2AF2_ENST00000450554.2_Silent_p.G114G|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA	p.G114G			1	2	3	2.033829	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	5	382	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	Q96HC5	Silent	SNP	ENST00000308924.4	1	1	hg19	c.342T>C	CCDS12933.1	0																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	0	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.141971	1	0.170000	NM_007279			12	12		336	328	0		1	1		0	0	79	0		9.990264e-01	9.996841e-01	0	34	0	369	0	12	336
EPN1	29924	broad.mit.edu	37	19	56204384	56204384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000270460.6	+	9	1556	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000411543.2_Silent_p.P501P|EPN1_ENST00000085079.7_Silent_p.P389P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	415	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCACTGCCGACCTCCGGGA	0.677																																						ENST00000270460.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1243-1245)ccG>ccA		epsin 1							59.0	72.0	68.0					19																	56204384		2090	4217	6307	SO:0001819	synonymous_variant	29924	4	120978	39				g.chr19:56204384G>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1245G>A	chr19.hg19:g.56204384G>A		0					EPN1_ENST00000411543.2_Silent_p.P501P|EPN1_ENST00000085079.7_Silent_p.P389P|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA	p.P415P	NM_001130072.1	NP_001123544.1	1	2	3	2.033829	Q9Y6I3	EPN1_HUMAN		9	1556	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	1	0	hg19	c.1245G>A	CCDS46199.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_013333			125	122		547	534	1		1	1		0	0	123	0		1	1	0	183	0	356	0	125	547
EPN1	29924	broad.mit.edu	37	19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000270460.6	+	10	1687	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000411543.2_Missense_Mutation_p.A545V|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	459	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCTGCAGCCACACCAACT	0.701																																						ENST00000270460.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1375-1377)gCc>gTc		epsin 1							18.0	30.0	26.0					19																	56206203		2062	4186	6248	SO:0001583	missense	29924	0	0					g.chr19:56206203C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1376C>T	chr19.hg19:g.56206203C>T	ENSP00000270460:p.Ala459Val	0					EPN1_ENST00000411543.2_Missense_Mutation_p.A545V|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|AC010525.7_ENST00000589698.1_lincRNA	p.A459V	NM_001130072.1	NP_001123544.1	1	2	3	2.033829	Q9Y6I3	EPN1_HUMAN		10	1687	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	1	1	hg19	c.1376C>T	CCDS46199.1	1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793851	0.16327	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.49;2.45	4.25	2.07	0.26955	4.25	2.07	0.26955	.	0.887707	0.09614	N	0.778490	T	0.05960	0.0155	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.001;0.001	T	0.42172	-0.9467	10	0.10111	T	0.7	-1.6637	5.5993	0.17345	0.0:0.7411:0.0:0.2589	.	419;545;459;433	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	459;433;419;545	ENSP00000270460:A459V;ENSP00000085079:A433V;ENSP00000406209:A545V	ENSP00000085079:A433V	A	+	2	0	0	EPN1	60898015	60898015	0.000000	0.05858	0.006000	0.13384	0.383000	0.30230	0.040000	0.13905	1.076000	0.40961	0.561000	0.74099	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_013333			24	24		64	62	0		1	1		0	0	15	0		9.999999e-01	1	0	127	0	188	0	24	64
NLRP11	204801	broad.mit.edu	37	19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000589093.1	-	8	2651	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							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)			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)		AATAACTATGGCAATATATTG	0.408																																						ENST00000589093.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2557-2559)gCc>gAc		NLR family, pyrin domain containing 11							127.0	133.0	131.0					19																	56300721		2203	4300	6503	SO:0001583	missense	204801	0	0					g.chr19:56300721G>T	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.2558C>A	chr19.hg19:g.56300721G>T	ENSP00000466285:p.Ala853Asp	0					NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D	p.A853D			1	2	3	2.033829	P59045	NAL11_HUMAN		8	2651	-		Colorectal(82;0.0002)	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	1	1	hg19	c.2558C>A	CCDS12935.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151332	0.38021	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58358	0.34;0.34	2.92	-0.783	0.10958	2.92	-0.783	0.10958	.	.	.	.	.	T	0.74107	0.3673	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.60541	-0.7243	9	0.72032	D	0.01	.	4.9762	0.14142	0.1316:0.4261:0.4424:0.0	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	D	853;799	ENSP00000409898:A853D;ENSP00000353251:A799D	ENSP00000353251:A799D	A	-	2	0	0	NLRP11	60992533	60992533	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.853000	0.27777	-0.047000	0.13423	0.591000	0.81541	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_145007			113	112		555	548	1		1			0	0	132	0		1	0	0	0	0	0	0	113	555
NLRP11	204801	broad.mit.edu	37	19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000589093.1	-	3	1427	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	445	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						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)			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)		GAACTTGTAACGGTCTTTATG	0.468																																						ENST00000589093.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1333-1335)cGt>cAt		NLR family, pyrin domain containing 11							63.0	63.0	63.0					19																	56320642		2203	4300	6503	SO:0001583	missense	204801	1	121412	24				g.chr19:56320642C>T	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.1334G>A	chr19.hg19:g.56320642C>T	ENSP00000466285:p.Arg445His	0					NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H	p.R445H			1	2	3	2.033829	P59045	NAL11_HUMAN		3	1427	-		Colorectal(82;0.0002)	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	1	1	hg19	c.1334G>A	CCDS12935.1	1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559011	0.03967	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74209	-0.82;-0.75	2.2	-3.03	0.05429	2.2	-3.03	0.05429	.	.	.	.	.	T	0.42177	0.1191	N	0.03608	-0.345	0.09310	N	1	B;B	0.27997	0.125;0.197	B;B	0.26864	0.019;0.074	T	0.30880	-0.9963	9	0.15066	T	0.55	.	4.319	0.11007	0.0:0.4651:0.2116:0.3233	.	445;445	P59045;P59045-2	NAL11_HUMAN;.	H	445	ENSP00000409898:R445H;ENSP00000353251:R445H	ENSP00000353251:R445H	R	-	2	0	0	NLRP11	61012454	61012454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.077000	0.00082	-0.957000	0.03627	-0.302000	0.09304	CGT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	1	0	1		2	2	2	0		0	0	68		68	65	1	2.060000	-20.000000	1	0.170000	NM_145007			65	65		265	262	1		1	0		0	0	68	0		1	3.999783e-02	0	1	0	1	0	65	265
SAFB	6294	broad.mit.edu	37	19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000454510.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	153					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GACGATGATGCTGATAACCTC	0.488																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(457-459)gCt>gAt		scaffold attachment factor B							131.0	127.0	129.0					19																	5641869		2203	4300	6503	SO:0001583	missense	6294	0	0					g.chr19:5641869C>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.458C>A	chr19.hg19:g.5641869C>A	ENSP00000292123:p.Ala153Asp	0					SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000454510.1_Intron	p.A153D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	1	2	3	2.010022	Q15424	SAFB1_HUMAN		4	565	+			A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	1	1	hg19	c.458C>A	CCDS12142.1	1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457123	0.12283	.	.	ENSG00000160633	ENST00000292123	T	0.11712	2.75	5.47	4.42	0.53409	5.47	4.42	0.53409	.	0.242758	0.29501	N	0.011962	T	0.12987	0.0315	M	0.62723	1.935	0.48571	D	0.999677	B;B;B;B;B	0.27823	0.023;0.19;0.052;0.052;0.052	B;B;B;B;B	0.27608	0.013;0.081;0.021;0.028;0.021	T	0.04737	-1.0930	10	0.17369	T	0.5	-5.9997	13.5464	0.61707	0.1611:0.8389:0.0:0.0	.	153;153;153;153;153	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	D	153	ENSP00000292123:A153D	ENSP00000292123:A153D	A	+	2	0	0	SAFB	5592869	5592869	0.025000	0.19082	0.015000	0.15790	0.350000	0.29205	2.814000	0.48010	1.239000	0.43787	0.557000	0.71058	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				91	89		404	395	1		1	1		0	0	76	0		1	1	0	56	0	171	0	91	404
NLRP13	126204	broad.mit.edu	37	19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A	rs201165184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000342929.3	-	11	2962	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A988V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	988							ATP binding (GO:0005524)			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)		ATTGCATTTCGCCAACCTAGG	0.458																																						ENST00000342929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(2962-2964)gCg>gTg		NLR family, pyrin domain containing 13							81.0	80.0	80.0					19																	56407480		2203	4300	6503	SO:0001583	missense	126204	4	121412	40				g.chr19:56407480G>A	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.2963C>T	chr19.hg19:g.56407480G>A	ENSP00000343891:p.Ala988Val	0					NLRP13_ENST00000588751.1_Missense_Mutation_p.A988V	p.A988V	NM_176810.2	NP_789780.2	1	2	3	2.033829	Q86W25	NAL13_HUMAN		11	2962	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	1	1	hg19	c.2963C>T	CCDS33119.1	1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000173572	ENST00000342929	T	0.53857	0.6	3.0	-2.83	0.05769	3.0	-2.83	0.05769	.	.	.	.	.	T	0.25044	0.0608	N	0.05574	-0.02	0.09310	N	1	P	0.39748	0.686	B	0.34138	0.176	T	0.18745	-1.0327	9	0.15066	T	0.55	.	11.3765	0.49730	0.0:0.0:0.7324:0.2676	.	988	Q86W25	NAL13_HUMAN	V	988	ENSP00000343891:A988V	ENSP00000343891:A988V	A	-	2	0	0	NLRP13	61099292	61099292	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.576000	0.05854	-0.373000	0.07979	-0.467000	0.05162	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_176810			105	104		360	354	1		1			0	0	79	0		1	0	0	0	0	0	0	105	360
NLRP13	126204	broad.mit.edu	37	19	56423641	56423641	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423641A>G	ENST00000342929.3	-	5	1541	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	NLRP13_ENST00000588751.1_Silent_p.D514D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			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)		CGTAGAGAGAATCAATGAAAG	0.468																																						ENST00000342929.3	1.000000	0.190000	6.100000e-01	2.800000e-01	0.390000	0.466874	0.390000	0.360000																										0				109						c.(1540-1542)gaT>gaC		NLR family, pyrin domain containing 13							60.0	61.0	60.0					19																	56423641		2203	4300	6503	SO:0001819	synonymous_variant	126204	0	0					g.chr19:56423641A>G	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.1542T>C	chr19.hg19:g.56423641A>G		0					NLRP13_ENST00000588751.1_Silent_p.D514D	p.D514D	NM_176810.2	NP_789780.2	1	2	3	2.033829	Q86W25	NAL13_HUMAN		5	1541	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Q7RTR5	Silent	SNP	ENST00000342929.3	0	1	hg19	c.1542T>C	CCDS33119.1	0																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	0	0	1		19	2	2	1		1	1	62		62	62	1	2.060000	-11.472010	1	0.170000	NM_176810			11	10		354	348	0		0			1	0	62	0		8.540112e-02	0	0	0	0	0	0	11	354
NLRP13	126204	broad.mit.edu	37	19	56423953	56423953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000342929.3	-	5	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000588751.1_Silent_p.Q410Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			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)		TTCTTAGCTGCTGCAGGATTT	0.458																																						ENST00000342929.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(1228-1230)caG>caA		NLR family, pyrin domain containing 13							84.0	89.0	87.0					19																	56423953		2203	4300	6503	SO:0001819	synonymous_variant	126204	1	121412	34				g.chr19:56423953C>T	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.1230G>A	chr19.hg19:g.56423953C>T		0					NLRP13_ENST00000588751.1_Silent_p.Q410Q	p.Q410Q	NM_176810.2	NP_789780.2	1	2	3	2.033829	Q86W25	NAL13_HUMAN		5	1229	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Q7RTR5	Silent	SNP	ENST00000342929.3	1	1	hg19	c.1230G>A	CCDS33119.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_176810			84	78		325	317	0		1			0	0	74	0		1	0	0	0	0	0	0	84	325
NLRP8	126205	broad.mit.edu	37	19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G210E(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)		GCCATACAGGGAGCTCCTGGG	0.522																																						ENST00000291971.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G210E(1)	skin(1)	35						c.(628-630)gGa>gTa		NLR family, pyrin domain containing 8							87.0	73.0	78.0					19																	56466053		2203	4300	6503	SO:0001583	missense	126205	0	0					g.chr19:56466053G>T	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.629G>T	chr19.hg19:g.56466053G>T	ENSP00000291971:p.Gly210Val	0					NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	p.G210V	NM_176811.2	NP_789781.2	1	2	3	2.033829	Q86W28	NALP8_HUMAN		3	700	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	1	1	hg19	c.629G>T	CCDS12937.1	1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792438	0.31685	.	.	ENSG00000179709	ENST00000291971	D	0.88896	-2.44	2.04	0.942	0.19525	2.04	0.942	0.19525	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93621	0.7963	M	0.87900	2.915	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84005	0.0345	9	0.87932	D	0	.	6.4363	0.21825	0.0:0.308:0.692:0.0	.	210;210	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	210	ENSP00000291971:G210V	ENSP00000291971:G210V	G	+	2	0	0	NLRP8	61157865	61157865	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.793000	0.69060	0.400000	0.25396	0.514000	0.50259	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_176811			64	63		347	336	1		1			0	0	87	0		1	0	0	0	0	0	0	64	347
NLRP8	126205	broad.mit.edu	37	19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	450	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		ACCAAGCACAACTGGAAGGTC	0.498																																						ENST00000291971.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1348-1350)caA>caC		NLR family, pyrin domain containing 8							96.0	94.0	95.0					19																	56466774		2203	4300	6503	SO:0001583	missense	126205	0	0					g.chr19:56466774A>C	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.1350A>C	chr19.hg19:g.56466774A>C	ENSP00000291971:p.Gln450His	0					NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	p.Q450H	NM_176811.2	NP_789781.2	1	2	3	2.033829	Q86W28	NALP8_HUMAN		3	1421	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	1	1	hg19	c.1350A>C	CCDS12937.1	1	.	.	.	.	.	.	.	.	.	.	A	5.959	0.360931	0.11296	.	.	ENSG00000179709	ENST00000291971	D	0.83992	-1.79	1.78	-3.56	0.04626	1.78	-3.56	0.04626	.	.	.	.	.	T	0.77405	0.4125	M	0.62016	1.91	0.09310	N	1	P;B	0.34546	0.456;0.41	B;B	0.39339	0.297;0.275	T	0.65323	-0.6196	9	0.39692	T	0.17	.	3.9769	0.09478	0.2802:0.4107:0.3091:0.0	.	450;450	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	450	ENSP00000291971:Q450H	ENSP00000291971:Q450H	Q	+	3	2	2	NLRP8	61158586	61158586	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.334000	0.01107	-1.427000	0.01992	0.421000	0.28195	CAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_176811			93	92		449	441	1		1			0	0	103	0		1	0	0	0	0	0	0	93	449
NLRP8	126205	broad.mit.edu	37	19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	741					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		CAGCCTAAGGCGTGTGAATAG	0.517																																						ENST00000291971.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2221-2223)Cgt>Tgt		NLR family, pyrin domain containing 8							168.0	147.0	154.0					19																	56477586		2203	4300	6503	SO:0001583	missense	126205	2	121412	33				g.chr19:56477586C>T	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.2221C>T	chr19.hg19:g.56477586C>T	ENSP00000291971:p.Arg741Cys	0					NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	p.R741C	NM_176811.2	NP_789781.2	1	2	3	2.033829	Q86W28	NALP8_HUMAN		5	2292	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	1	1	hg19	c.2221C>T	CCDS12937.1	1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005020	0.07773	.	.	ENSG00000179709	ENST00000291971	T	0.74526	-0.85	1.82	0.719	0.18208	1.82	0.719	0.18208	.	.	.	.	.	T	0.62901	0.2466	L	0.46741	1.465	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.15484	0.013;0.001	T	0.51132	-0.8744	9	0.37606	T	0.19	.	5.4535	0.16578	0.3284:0.6716:0.0:0.0	.	741;741	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	741	ENSP00000291971:R741C	ENSP00000291971:R741C	R	+	1	0	0	NLRP8	61169398	61169398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.131000	0.10482	0.296000	0.22592	0.557000	0.71058	CGT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_176811			98	96		484	476	1		1			0	0	108	0		1	0	0	0	0	0	0	98	484
NLRP5	126206	broad.mit.edu	37	19	56539009	56539009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	470	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)			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)		AGTGCCAGGTGCCCGCCGTGG	0.632																																						ENST00000390649.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				25						c.(1408-1410)gtG>gtA		NLR family, pyrin domain containing 5							31.0	36.0	34.0					19																	56539009		2121	4236	6357	SO:0001819	synonymous_variant	126206	0	0					g.chr19:56539009G>A	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.1410G>A	chr19.hg19:g.56539009G>A		0						p.V470V	NM_153447.4	NP_703148.4	1	2	3	2.033829	P59047	NALP5_HUMAN		7	1410	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	1	1	hg19	c.1410G>A	CCDS12938.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_153447			37	34		200	198	1		1			0	0	37	0		1	0	0	0	0	0	0	37	200
ZNF787	126208	broad.mit.edu	37	19	56600023	56600023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600023C>T	ENST00000270459.3	-	3	636	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTGAGGCCGCTGTGCGAGCG	0.716																																						ENST00000270459.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.992479	0.990000	1.000000																										0				5						c.(517-519)aGc>aAc		zinc finger protein 787							8.0	9.0	9.0					19																	56600023		2167	4267	6434	SO:0001583	missense	126208	0	0					g.chr19:56600023C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.518G>A	chr19.hg19:g.56600023C>T	ENSP00000270459:p.Ser173Asn	0						p.S173N	NM_001002836.2	NP_001002836	1	2	3	2.033829	Q6DD87	ZN787_HUMAN		3	636	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	O00455	Missense_Mutation	SNP	ENST00000270459.3	0	1	hg19	c.518G>A	CCDS42634.1	1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037559	0.93630	.	.	ENSG00000142409	ENST00000270459	T	0.19394	2.15	3.75	2.66	0.31614	3.75	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	L	0.39245	1.2	0.80722	D	1	P	0.49447	0.924	B	0.40134	0.32	T	0.03240	-1.1057	9	0.72032	D	0.01	-27.8195	9.9398	0.41574	0.0:0.5935:0.4065:0.0	.	173	Q6DD87	ZN787_HUMAN	N	173	ENSP00000270459:S173N	ENSP00000270459:S173N	S	-	2	0	0	ZNF787	61291835	61291835	0.001000	0.12720	0.999000	0.59377	0.958000	0.62258	-0.311000	0.08124	0.865000	0.35603	0.556000	0.70494	AGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.965250	1	0.170000	NM_001002836			9	9		53	53	0		1	1		0	0	16	0		9.953946e-01	9.920100e-01	0	20	0	35	0	9	53
ZNF787	126208	broad.mit.edu	37	19	56600160	56600160	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672																																						ENST00000270459.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				5						c.(379-381)tgC>tgT		zinc finger protein 787							24.0	25.0	24.0					19																	56600160		2203	4300	6503	SO:0001819	synonymous_variant	126208	1	121342	26				g.chr19:56600160G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.381C>T	chr19.hg19:g.56600160G>A		0						p.C127C	NM_001002836.2	NP_001002836	1	2	3	2.033829	Q6DD87	ZN787_HUMAN		3	499	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	O00455	Silent	SNP	ENST00000270459.3	1	1	hg19	c.381C>T	CCDS42634.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_001002836			27	27		119	118	0		1	1		0	0	31	0		1	9.999983e-01	0	33	0	69	0	27	119
ZNF787	126208	broad.mit.edu	37	19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K|Y_RNA_ENST00000411128.1_RNA	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642																																						ENST00000270459.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(70-72)Gag>Aag		zinc finger protein 787							44.0	53.0	50.0					19																	56614517		1997	4167	6164	SO:0001583	missense	126208	0	0					g.chr19:56614517C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.70G>A	chr19.hg19:g.56614517C>T	ENSP00000270459:p.Glu24Lys	0					Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	p.E24K	NM_001002836.2	NP_001002836	1	2	3	2.033829	Q6DD87	ZN787_HUMAN		2	188	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	O00455	Missense_Mutation	SNP	ENST00000270459.3	1	1	hg19	c.70G>A	CCDS42634.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000142409	ENST00000270459	T	0.06068	3.35	3.15	3.15	0.36227	3.15	3.15	0.36227	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.23936	N	0.99642	D	0.56521	0.976	P	0.50825	0.651	T	0.39375	-0.9617	9	0.54805	T	0.06	-32.3686	10.0497	0.42208	0.0:1.0:0.0:0.0	.	24	Q6DD87	ZN787_HUMAN	K	24	ENSP00000270459:E24K	ENSP00000270459:E24K	E	-	1	0	0	ZNF787	61306329	61306329	0.836000	0.29430	0.993000	0.49108	0.339000	0.28857	1.304000	0.33482	2.086000	0.62901	0.462000	0.41574	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.189669	1	0.170000	NM_001002836			46	44		200	196	1		1	1		0	0	45	0		1	9.999991e-01	0	31	0	64	0	46	200
ZNF444	55311	broad.mit.edu	37	19	56658505	56658505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCCCGCCGACACGCAGGCCT	0.716																																						ENST00000337080.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.996910	0.990000	1.000000																										0				7						c.(223-225)gaC>gaT		zinc finger protein 444							8.0	9.0	9.0					19																	56658505		2157	4220	6377	SO:0001819	synonymous_variant	55311	0	0					g.chr19:56658505C>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.225C>T	chr19.hg19:g.56658505C>T		0					ZNF444_ENST00000592949.1_Silent_p.D75D	p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	1	2	3	2.033829	Q8N0Y2	ZN444_HUMAN		3	592	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	ENST00000337080.3	0	1	hg19	c.225C>T	CCDS12939.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_018337			11	6		60	59	0		1	1		0	0	8	0		9.979990e-01	6.714104e-01	0	6	0	8	0	11	60
RPL36	25873	broad.mit.edu	37	19	5691599	5691599	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5691599C>T	ENST00000577222.1	+	6	829	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000394580.2_Silent_p.A95A			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						ACGTACTGGCCGCCATGAGGA	0.637											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1	1.000000	0.160000	7.100000e-01	2.700000e-01	0.440000	0.492256	0.440000	0.380000																										0				2						c.(283-285)gcC>gcT		ribosomal protein L36							14.0	16.0	15.0					19																	5691599		2189	4273	6462	SO:0001819	synonymous_variant	25873	0	0					g.chr19:5691599C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.285C>T	chr19.hg19:g.5691599C>T		0		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000394580.2_Silent_p.A95A|RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.A95A	p.A95A			1	2	3	2.010022	Q9Y3U8	RL36_HUMAN		6	829	+			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	0	1	hg19	c.285C>T	CCDS12147.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-7.578608	1	0.170000	NM_015414			5	5		147	144	0		1	1	0	0	0	24	0		9.352905e-01	1	0	89	0	3375	1	5	147
ZSCAN5B	342933	broad.mit.edu	37	19	56704380	56704380	+	Silent	SNP	G	G	T	rs372790304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	ENST00000586855.2	-	2	355	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ZSCAN5B_ENST00000358992.3_Silent_p.P14P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	14					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)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTGTTGCAGGGTCCTCCCT	0.507																																						ENST00000586855.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999910	0.990000	1.000000																										0				37						c.(40-42)ccC>ccA		zinc finger and SCAN domain containing 5B							49.0	42.0	44.0					19																	56704380		692	1591	2283	SO:0001819	synonymous_variant	342933	0	0					g.chr19:56704380G>T		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.42C>A	chr19.hg19:g.56704380G>T		0					ZSCAN5B_ENST00000358992.3_Silent_p.P14P	p.P14P			1	2	3	2.033829	A6NJL1	ZSA5B_HUMAN		2	355	-				Silent	SNP	ENST00000586855.2	1	1	hg19	c.42C>A	CCDS46203.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_001080456			17	17		71	70	1		1			0	0	15	0		9.999802e-01	0	0	0	0	0	0	17	71
ZNF583	147949	broad.mit.edu	37	19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)		AATTCATACAGGAGAGAAACC	0.413																																						ENST00000333201.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1042-1044)Gga>Aga		zinc finger protein 583							116.0	123.0	121.0					19																	56935069		2203	4300	6503	SO:0001583	missense	147949	0	0					g.chr19:56935069G>A	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.1042G>A	chr19.hg19:g.56935069G>A	ENSP00000388502:p.Gly348Arg	0					ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	1	2	3	2.033829	Q96ND8	ZN583_HUMAN		5	1252	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	1	1	hg19	c.1042G>A	CCDS12943.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324461	0.81580	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26223	1.75;1.75	4.33	4.33	0.51752	4.33	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000502	T	0.48892	0.1525	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.45366	-0.9266	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	348	Q96ND8	ZN583_HUMAN	R	348	ENSP00000291598:G348R;ENSP00000388502:G348R	.	G	+	1	0	0	ZNF583	61626881	61626881	1.000000	0.71417	0.538000	0.28064	0.994000	0.84299	4.412000	0.59787	2.415000	0.81967	0.462000	0.41574	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-3.226905	1	0.170000	NM_152478			69	69		314	307	1		1	1		0	0	89	0		1	8.363956e-01	0	4	0	13	0	69	314
ZNF583	147949	broad.mit.edu	37	19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)		TATGTGTGTAATGTGTGTGGG	0.408																																						ENST00000333201.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1063-1065)aAt>aCt		zinc finger protein 583							124.0	128.0	127.0					19																	56935091		2203	4300	6503	SO:0001583	missense	147949	0	0					g.chr19:56935091A>C	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.1064A>C	chr19.hg19:g.56935091A>C	ENSP00000388502:p.Asn355Thr	0					ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	1	2	3	2.033829	Q96ND8	ZN583_HUMAN		5	1274	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	1	1	hg19	c.1064A>C	CCDS12943.1	1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054718	0.19907	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.2	0.27929	4.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462253	0.18306	N	0.145252	T	0.05090	0.0136	N	0.05177	-0.1	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.44892	-0.9298	9	.	.	.	.	4.4064	0.11411	0.6477:0.1809:0.1715:0.0	.	355	Q96ND8	ZN583_HUMAN	T	355	ENSP00000291598:N355T;ENSP00000388502:N355T	.	N	+	2	0	0	ZNF583	61626903	61626903	0.000000	0.05858	0.002000	0.10522	0.946000	0.59487	-2.053000	0.01400	0.784000	0.33661	0.379000	0.24179	AAT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_152478			81	79		319	314	1		1	1		0	0	79	0		1	8.832136e-01	0	2	0	15	0	81	319
ZNF583	147949	broad.mit.edu	37	19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)			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)		AAAGCCTTCAGCCAAATTGCA	0.408																																						ENST00000333201.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				26						c.(1252-1254)aGc>aAc		zinc finger protein 583							61.0	63.0	62.0					19																	56935280		2203	4300	6503	SO:0001583	missense	147949	0	0					g.chr19:56935280G>A	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.1253G>A	chr19.hg19:g.56935280G>A	ENSP00000388502:p.Ser418Asn	0					ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	1	2	3	2.033829	Q96ND8	ZN583_HUMAN		5	1463	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	1	1	hg19	c.1253G>A	CCDS12943.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956489	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07567	3.18;3.18	4.57	-0.998	0.10212	4.57	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.13670	0.0331	L	0.48218	1.51	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.12400	-1.0549	9	.	.	.	.	1.7987	0.03067	0.3461:0.1244:0.4027:0.1268	.	418	Q96ND8	ZN583_HUMAN	N	418	ENSP00000291598:S418N;ENSP00000388502:S418N	.	S	+	2	0	0	ZNF583	61627092	61627092	0.000000	0.05858	0.130000	0.21974	0.997000	0.91878	-4.173000	0.00280	-0.120000	0.11809	0.563000	0.77884	AGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-19.030920	1	0.170000	NM_152478			42	42		264	263	1		1	1		0	0	72	0		1	7.298758e-01	0	2	0	16	0	42	264
LONP1	9361	broad.mit.edu	37	19	5694911	5694911	+	Splice_Site	SNP	C	C	T	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000585374.1_Splice_Site_p.R558H|LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000593119.1_Splice_Site_p.R608H	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637																																						ENST00000360614.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				24						c.(2014-2016)cGc>cAc		lon peptidase 1, mitochondrial		C	HIS/ARG	0,4406		0,0,2203	34.0	35.0	35.0		2015	2.7	0.6	19	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense-near-splice	LONP1	NM_004793.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	672/960	5694911	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	9361	3	121328	31				g.chr19:5694911C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.2014-1G>A	chr19.hg19:g.5694911C>T		0					LONP1_ENST00000593119.1_Splice_Site_p.R608H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000585374.1_Splice_Site_p.R558H	p.R672H	NM_004793.2	NP_004784.2	1	2	3	2.010022				14	2172	-				Splice_Site	SNP	ENST00000360614.3	1	0	hg19	c.2015G>A	CCDS12148.1	1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187963	0.57909	0.0	1.16E-4	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26067	2.06;1.76	3.72	2.65	0.31530	3.72	2.65	0.31530	.	0.134457	0.42682	D	0.000661	T	0.24661	0.0598	L	0.60904	1.88	0.80722	D	1	P;P;P	0.45634	0.863;0.863;0.863	B;B;B	0.43194	0.411;0.411;0.411	T	0.01956	-1.1240	10	0.49607	T	0.09	-7.9883	6.32	0.21213	0.0:0.7612:0.0:0.2388	.	672;608;672	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	H	672;636;476	ENSP00000353826:R672H;ENSP00000441523:R476H	ENSP00000351177:R636H	R	-	2	0	0	LONP1	5645911	5645911	0.995000	0.38212	0.637000	0.29366	0.762000	0.43233	3.212000	0.51145	0.548000	0.28955	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	0	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_004793	Missense_Mutation		39	39		225	219	1		1	1		0	0	29	0		1	1	0	72	0	163	0	39	225
ZNF583	147949	broad.mit.edu	37	19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)			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)		CAACATCAGAGAATTCATACT	0.383																																						ENST00000333201.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1450-1452)aGa>aTa		zinc finger protein 583							90.0	94.0	92.0					19																	56935478		2203	4300	6503	SO:0001583	missense	147949	0	0					g.chr19:56935478G>T	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.1451G>T	chr19.hg19:g.56935478G>T	ENSP00000388502:p.Arg484Ile	0					ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	1	2	3	2.033829	Q96ND8	ZN583_HUMAN		5	1661	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	1	1	hg19	c.1451G>T	CCDS12943.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723444	0.68959	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.63	4.63	0.57726	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000332	T	0.51719	0.1691	M	0.78223	2.4	0.54753	D	0.999981	D	0.71674	0.998	D	0.71414	0.973	T	0.53436	-0.8439	9	.	.	.	.	16.7887	0.85582	0.0:0.0:1.0:0.0	.	484	Q96ND8	ZN583_HUMAN	I	484	ENSP00000291598:R484I;ENSP00000388502:R484I	.	R	+	2	0	0	ZNF583	61627290	61627290	0.000000	0.05858	0.008000	0.14137	0.993000	0.82548	-0.421000	0.07053	2.571000	0.86741	0.655000	0.94253	AGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_152478			88	88		393	386	1		1	1		0	0	94	0		1	8.648484e-01	0	7	0	11	0	88	393
ZNF667	63934	broad.mit.edu	37	19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000504904.3	-	4	733	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000591790.1_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	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)			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)		GGATTTCCCCCGTGCAGAAGG	0.537																																						ENST00000504904.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(13-15)cGg>cAg		zinc finger protein 667							239.0	196.0	210.0					19																	56973726		2203	4300	6503	SO:0001583	missense	63934	0	0					g.chr19:56973726C>T		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.14G>A	chr19.hg19:g.56973726C>T	ENSP00000439402:p.Arg5Gln	0					ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000591790.1_Missense_Mutation_p.R5Q	p.R5Q			1	2	3	2.033829	Q5HYK9	ZN667_HUMAN		4	733	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	1	1	hg19	c.14G>A	CCDS12944.1	1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020736	0.54576	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05447	3.44;3.49;3.49	4.21	3.17	0.36434	4.21	3.17	0.36434	.	0.291293	0.18795	N	0.130960	T	0.03053	0.0090	N	0.12746	0.255	0.09310	N	1	B	0.31503	0.326	B	0.16289	0.015	T	0.45440	-0.9261	10	0.26408	T	0.33	-3.0919	8.5568	0.33487	0.0:0.8876:0.0:0.1124	.	5	Q5HYK9	ZN667_HUMAN	Q	98;5;5	ENSP00000344699:R98Q;ENSP00000439402:R5Q;ENSP00000292069:R5Q	ENSP00000292069:R5Q	R	-	2	0	0	ZNF667	61665538	61665538	0.010000	0.17322	0.005000	0.12908	0.116000	0.19942	0.503000	0.22610	1.087000	0.41251	0.467000	0.42956	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-2.578435	1	0.170000	NM_022103			105	102		646	620	1		1	0		0	0	157	0		1	3.135743e-01	0	0	0	8	0	105	646
ZNF471	57573	broad.mit.edu	37	19	57036570	57036570	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000308031.5	+	5	1267	c.1134T>C	c.(1132-1134)atT>atC	p.I378I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L238S	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TTAATTGCATTGATTGTGGGA	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1132-1134)atT>atC		zinc finger protein 471							88.0	93.0	91.0					19																	57036570		2203	4300	6503	SO:0001819	synonymous_variant	57573	0	0					g.chr19:57036570T>C	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.1134T>C	chr19.hg19:g.57036570T>C		0					ZNF471_ENST00000591537.1_Missense_Mutation_p.L238S|ZNF471_ENST00000593197.1_Intron	p.I378I	NM_020813.2	NP_065864.2	1	2	3	2.033829	Q9BX82	ZN471_HUMAN		5	1267	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	1	1	hg19	c.1134T>C	CCDS12945.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	0	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_020813			114	114		507	498	1		1	0		0	0	139	0		1	3.069669e-01	0	0	0	6	0	114	507
ZFP28	140612	broad.mit.edu	37	19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		AGGCTGTGTGGAAGATCAAGG	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				35						c.(538-540)tgG>tgT		ZFP28 zinc finger protein							62.0	58.0	59.0					19																	57060343		2203	4300	6503	SO:0001583	missense	140612	0	0					g.chr19:57060343G>T		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.540G>T	chr19.hg19:g.57060343G>T	ENSP00000301318:p.Trp180Cys	0					AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	p.W180C	NM_020828.1	NP_065879.1	1	2	3	2.033829	Q8NHY6	ZFP28_HUMAN		5	611	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	1	1	hg19	c.540G>T	CCDS12946.1	1	.	.	.	.	.	.	.	.	.	.	G	0.161	-1.080813	0.01888	.	.	ENSG00000196867	ENST00000301318	T	0.04970	3.52	4.34	-0.623	0.11556	4.34	-0.623	0.11556	.	2.748390	0.01538	N	0.019092	T	0.04634	0.0126	N	0.05230	-0.09	0.09310	N	1	B;P	0.47762	0.0;0.9	B;P	0.45913	0.0;0.497	T	0.15150	-1.0447	10	0.37606	T	0.19	.	4.3467	0.11136	0.251:0.0:0.5953:0.1537	.	180;180	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	C	180	ENSP00000301318:W180C	ENSP00000301318:W180C	W	+	3	0	0	ZFP28	61752155	61752155	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.339000	0.07832	-0.073000	0.12842	0.655000	0.94253	TGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_020828			26	26		145	144	1		1	0		0	0	35	0		1	7.813374e-01	0	0	0	18	0	26	145
ZFP28	140612	broad.mit.edu	37	19	57061959	57061959	+	Nonsense_Mutation	SNP	G	G	T	rs191570010	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57061959G>T	ENST00000301318.3	+	7	954	c.883G>T	c.(883-885)Gga>Tga	p.G295*	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Nonsense_Mutation_p.G295*	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	295	KRAB 2. {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)			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)		AGAGCTGACAGGAAGCCTGTT	0.468																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(883-885)Gga>Tga		ZFP28 zinc finger protein							85.0	87.0	86.0					19																	57061959		2203	4300	6503	SO:0001587	stop_gained	140612	0	0					g.chr19:57061959G>T		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.883G>T	chr19.hg19:g.57061959G>T	ENSP00000301318:p.Gly295*	0					AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Nonsense_Mutation_p.G295*	p.G295*	NM_020828.1	NP_065879.1	1	2	3	2.033829	Q8NHY6	ZFP28_HUMAN		7	954	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Nonsense_Mutation	SNP	ENST00000301318.3	0	0	hg19	c.883G>T	CCDS12946.1	1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715171	0.68844	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.67	-5.3	0.02738	3.67	-5.3	0.02738	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.6577	0.17652	0.2736:0.2838:0.4426:0.0	.	.	.	.	X	295	.	ENSP00000301318:G295X	G	+	1	0	0	ZFP28	61753771	61753771	0.001000	0.12720	0.000000	0.03702	0.189000	0.23516	-0.287000	0.08388	-1.094000	0.03054	0.655000	0.94253	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.357445	1	0.170000	NM_020828			56	55		275	272	1		1	1		0	0	80	0		1	7.796739e-01	0	10	0	6	0	56	275
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		ATAATGGAAAGACTTAAAAGC	0.363																																						ENST00000330619.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(370-372)aGa>aAa		zinc finger protein 470							65.0	68.0	67.0					19																	57088168		2202	4298	6500	SO:0001583	missense	388566	0	0					g.chr19:57088168G>A	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.371G>A	chr19.hg19:g.57088168G>A	ENSP00000333223:p.Arg124Lys	0					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K	p.R124K	NM_001001668.3	NP_001001668.3	1	2	3	2.033829	Q6ECI4	ZN470_HUMAN		6	1057	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	1	1	hg19	c.371G>A	CCDS33122.1	1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328844	0.05314	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06142	3.34;3.34	4.03	1.74	0.24563	4.03	1.74	0.24563	.	.	.	.	.	T	0.07908	0.0198	L	0.31752	0.955	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.29731	-1.0002	9	0.11794	T	0.64	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	K	124	ENSP00000375590:R124K;ENSP00000333223:R124K	ENSP00000333223:R124K	R	+	2	0	0	ZNF470	61779980	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_001001668			84	82		322	311	1		1	0		0	0	65	0		1	5.861983e-01	0	0	0	9	0	84	322
ZNF470	388566	broad.mit.edu	37	19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGTGGGAAAGCTTTCAGGCAG	0.423																																						ENST00000330619.8	1.000000	0.620000	1	7.700000e-01	0.950000	0.905661	0.950000	1.000000																										0				41						c.(1126-1128)gCt>gTt		zinc finger protein 470							97.0	90.0	93.0					19																	57088924		2203	4300	6503	SO:0001583	missense	388566	0	0					g.chr19:57088924C>T	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.1127C>T	chr19.hg19:g.57088924C>T	ENSP00000333223:p.Ala376Val	0					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V	p.A376V	NM_001001668.3	NP_001001668.3	1	2	3	2.033829	Q6ECI4	ZN470_HUMAN		6	1813	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	1	1	hg19	c.1127C>T	CCDS33122.1	1	.	.	.	.	.	.	.	.	.	.	-	7.775	0.708314	0.15239	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	4.19	4.19	0.49359	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	N	0.10733	0.035	0.09310	N	1	P	0.43885	0.82	B	0.44224	0.444	T	0.05920	-1.0856	9	0.41790	T	0.15	.	5.8632	0.18760	0.0:0.6971:0.1981:0.1047	.	376	Q6ECI4	ZN470_HUMAN	V	376	ENSP00000375590:A376V;ENSP00000333223:A376V	ENSP00000333223:A376V	A	+	2	0	0	ZNF470	61780736	61780736	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	0.405000	0.21015	2.177000	0.69029	0.603000	0.83216	GCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_001001668			26	26		313	307	0		1	0		0	0	81	0		9.999999e-01	7.736378e-02	0	0	0	6	0	26	313
ZNF470	388566	broad.mit.edu	37	19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	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)			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)		TGCACACCTCGCGCAACATCA	0.458													G|||	11	0.00219649	0.0	0.0	5008	,	,		21953	0.0		0.002	False		,,,				2504	0.0092					ENST00000330619.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1573-1575)Gcg>Acg		zinc finger protein 470		G	THR/ALA	2,4404	6.2+/-15.9	0,2,2201	68.0	67.0	67.0		1573	2.1	0.5	19	dbSNP_134	67	10,8590	7.1+/-27.0	0,10,4290	yes	missense	ZNF470	NM_001001668.3	58	0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923	benign	525/718	57089370	12,12994	2203	4300	6503	SO:0001583	missense	388566	208	121410	53				g.chr19:57089370G>A	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.1573G>A	chr19.hg19:g.57089370G>A	ENSP00000333223:p.Ala525Thr	0					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T	p.A525T	NM_001001668.3	NP_001001668.3	1	2	3	2.033829	Q6ECI4	ZN470_HUMAN		6	2259	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	1	1	hg19	c.1573G>A	CCDS33122.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.273	-0.366479	0.05069	4.54E-4	0.001163	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08008	3.14;3.14	4.37	2.12	0.27331	4.37	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.40961	-0.9535	9	0.02654	T	1	.	5.5542	0.17107	0.2087:0.1704:0.6209:0.0	.	525	Q6ECI4	ZN470_HUMAN	T	525	ENSP00000375590:A525T;ENSP00000333223:A525T	ENSP00000333223:A525T	A	+	1	0	0	ZNF470	61781182	61781182	0.000000	0.05858	0.481000	0.27354	0.812000	0.45895	0.041000	0.13927	1.066000	0.40716	-0.145000	0.13849	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.568536	1	0.170000	NM_001001668			61	60		276	270	1		1	0		0	0	72	0		1	5.672825e-01	0	0	0	10	0	61	276
ZNF470	388566	broad.mit.edu	37	19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(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)		GTATGAATGTCTTGAATGTGG	0.433																																						ENST00000330619.8	1.000000	0.240000	6.500000e-01	3.200000e-01	0.430000	0.505321	0.430000	0.410000																										0				41						c.(1786-1788)Ctt>Att		zinc finger protein 470							96.0	91.0	92.0					19																	57089583		2203	4300	6503	SO:0001583	missense	388566	0	0					g.chr19:57089583C>A	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.1786C>A	chr19.hg19:g.57089583C>A	ENSP00000333223:p.Leu596Ile	0					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I	p.L596I	NM_001001668.3	NP_001001668.3	1	2	3	2.033829	Q6ECI4	ZN470_HUMAN		6	2472	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	1	1	hg19	c.1786C>A	CCDS33122.1	0	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799205	0.31869	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.38	0.575	0.17374	4.38	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.32561	-0.9902	9	0.54805	T	0.06	.	8.1605	0.31196	0.1625:0.5364:0.3011:0.0	.	596	Q6ECI4	ZN470_HUMAN	I	596	ENSP00000375590:L596I;ENSP00000333223:L596I	ENSP00000333223:L596I	L	+	1	0	0	ZNF470	61781395	61781395	0.000000	0.05858	0.655000	0.29622	0.996000	0.88848	-1.176000	0.03099	0.434000	0.26340	0.655000	0.94253	CTT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	0	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.734163	1	0.170000	NM_001001668			14	14		396	387	0		1	0		0	0	85	0		9.997244e-01	1.895066e-02	0	0	0	6	0	14	396
ZNF71	58491	broad.mit.edu	37	19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTTTGAGTGTGACACCTGTGG	0.597																																						ENST00000328070.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(481-483)Gac>Aac		zinc finger protein 71							53.0	54.0	54.0					19																	57133136		2203	4300	6503	SO:0001583	missense	58491	0	0					g.chr19:57133136G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.481G>A	chr19.hg19:g.57133136G>A	ENSP00000328245:p.Asp161Asn	0						p.D161N	NM_021216.4	NP_067039.1	1	2	3	2.033829	Q9NQZ8	ZNF71_HUMAN		3	715	+			Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	1	1	hg19	c.481G>A	CCDS12947.1	1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005750	0.00426	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.7	-5.9	0.02275	3.7	-5.9	0.02275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46911	-0.9157	9	0.02654	T	1	.	7.5589	0.27839	0.6047:0.2386:0.1567:0.0	.	161	Q9NQZ8	ZNF71_HUMAN	N	161	ENSP00000328245:D161N	ENSP00000328245:D161N	D	+	1	0	0	ZNF71	61824948	61824948	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.715000	0.00385	-1.111000	0.02988	-0.254000	0.11334	GAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_021216			76	75		273	262	1		1	0		0	0	81	0		1	8.901748e-01	0	0	0	16	0	76	273
ZNF71	58491	broad.mit.edu	37	19	57133840	57133840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGGCGCTCGTCCCTCATCG	0.632																																						ENST00000328070.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1183-1185)tcG>tcA		zinc finger protein 71							89.0	72.0	78.0					19																	57133840		2203	4300	6503	SO:0001819	synonymous_variant	58491	0	0					g.chr19:57133840G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1185G>A	chr19.hg19:g.57133840G>A		0						p.S395S	NM_021216.4	NP_067039.1	1	2	3	2.033829	Q9NQZ8	ZNF71_HUMAN		3	1419	+			Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	1	1	hg19	c.1185G>A	CCDS12947.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	0		2	2	2	0		0	0	103		103	101	1	2.060000	-20.000000	1	0.170000	NM_021216			70	70		328	327	1		1	0		0	0	103	0		1	8.873843e-01	0	0	0	20	0	70	328
LONP1	9361	broad.mit.edu	37	19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000585374.1_Missense_Mutation_p.A46T|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		20095	0.0		0.0	False		,,,				2504	0.002					ENST00000360614.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(478-480)Gcc>Acc		lon peptidase 1, mitochondrial		C	THR/ALA	0,4406		0,0,2203	124.0	117.0	119.0		478	4.8	1.0	19	dbSNP_134	119	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LONP1	NM_004793.2	58	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	160/960	5714234	10,12996	2203	4300	6503	SO:0001583	missense	9361	64	121412	51				g.chr19:5714234C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.478G>A	chr19.hg19:g.5714234C>T	ENSP00000353826:p.Ala160Thr	0					LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	p.A160T	NM_004793.2	NP_004784.2	1	2	3	2.010022				2	635	-				Missense_Mutation	SNP	ENST00000360614.3	1	1	hg19	c.478G>A	CCDS12148.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916731	0.92249	0.0	0.001163	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.81	4.81	0.61882	4.81	4.81	0.61882	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.75447	2.3	0.58432	D	0.999991	D;P;D	0.54207	0.965;0.907;0.965	P;P;P	0.51055	0.657;0.523;0.657	T	0.57505	-0.7800	10	0.40728	T	0.16	-28.4331	15.4058	0.74877	0.0:1.0:0.0:0.0	.	160;96;160	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	160;124	ENSP00000353826:A160T	ENSP00000351177:A124T	A	-	1	0	0	LONP1	5665234	5665234	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	7.137000	0.77295	2.226000	0.72624	0.555000	0.69702	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	1	0	1		2	2	2	0		0	0	113		113	109	1	2.060000	-2.945523	1	0.170000	NM_004793			103	102		420	399	1		1	1		0	0	113	0		1	1	0	25	0	105	0	103	420
ZNF71	58491	broad.mit.edu	37	19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAACCTGACGCGCCACCTGCG	0.652																																						ENST00000328070.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(1447-1449)Cgc>Tgc		zinc finger protein 71							42.0	45.0	44.0					19																	57134102		2203	4300	6503	SO:0001583	missense	58491	1	121382	28				g.chr19:57134102C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1447C>T	chr19.hg19:g.57134102C>T	ENSP00000328245:p.Arg483Cys	0						p.R483C	NM_021216.4	NP_067039.1	1	2	3	2.033829	Q9NQZ8	ZNF71_HUMAN		3	1681	+			Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	1	1	hg19	c.1447C>T	CCDS12947.1	1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914312	0.52546	.	.	ENSG00000197951	ENST00000328070	T	0.31247	1.5	3.11	0.856	0.19019	3.11	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.76433	2.335	0.09310	N	0.999995	B	0.29508	0.246	B	0.17433	0.018	T	0.21895	-1.0232	9	0.59425	D	0.04	.	10.2854	0.43564	0.4993:0.5006:0.0:0.0	.	483	Q9NQZ8	ZNF71_HUMAN	C	483	ENSP00000328245:R483C	ENSP00000328245:R483C	R	+	1	0	0	ZNF71	61825914	61825914	0.000000	0.05858	0.986000	0.45419	0.981000	0.71138	-1.191000	0.03055	0.313000	0.23062	0.561000	0.74099	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_021216			56	56		330	320	1		1	0		0	0	53	0		1	8.461952e-01	0	0	0	22	0	56	330
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A	rs376671798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)			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						AAGGCGTCCCGAACTGTCTGC	0.642																																						ENST00000537055.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1498-1500)tCg>tTg		zinc finger protein 835							119.0	131.0	127.0					19																	57175068		2200	4299	6499	SO:0001583	missense	90485	0	0					g.chr19:57175068G>A	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.1499C>T	chr19.hg19:g.57175068G>A	ENSP00000444747:p.Ser500Leu	0						p.S500L	NM_001005850.2	NP_001005850.2	1	2	3	2.033829	Q9Y2P0	ZN835_HUMAN		2	1730	-			B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	1	1	hg19	c.1499C>T	CCDS56105.1	1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885100	0.17540	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.15	-4.29	0.03721	2.15	-4.29	0.03721	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	9	0.87932	D	0	.	11.1417	0.48406	0.0:0.6885:0.1825:0.129	.	522	Q9Y2P0	ZN835_HUMAN	L	522;500	ENSP00000444747:S500L	ENSP00000341756:S522L	S	-	2	0	0	ZNF835	61866880	61866880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-1.571000	0.01663	-0.311000	0.09066	TCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1		2	2	2	0		0	0	200		200	198	1	2.060000	-20.000000	1	0.170000	NM_001005850			207	205		891	876	1		1	0		0	0	200	0		1	2.400742e-01	0	0	0	5	0	207	891
ZNF835	90485	broad.mit.edu	37	19	57175214	57175214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)			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						AGGCCTTGCCGCACTCGGGGC	0.672																																						ENST00000537055.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1351-1353)tgC>tgT		zinc finger protein 835							57.0	63.0	61.0					19																	57175214		2201	4300	6501	SO:0001819	synonymous_variant	90485	0	0					g.chr19:57175214G>A	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.1353C>T	chr19.hg19:g.57175214G>A		0						p.C451C	NM_001005850.2	NP_001005850.2	1	2	3	2.033829	Q9Y2P0	ZN835_HUMAN		2	1584	-			B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	1	1	hg19	c.1353C>T	CCDS56105.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_001005850			128	126		505	495	1		1	0		0	0	108	0		1	0	0	0	0	1	0	128	505
ZNF835	90485	broad.mit.edu	37	19	57175556	57175556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697																																						ENST00000537055.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				47						c.(1009-1011)ggC>ggT		zinc finger protein 835							20.0	19.0	20.0					19																	57175556		2202	4295	6497	SO:0001819	synonymous_variant	90485	0	0					g.chr19:57175556G>A	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.1011C>T	chr19.hg19:g.57175556G>A		0						p.G337G	NM_001005850.2	NP_001005850.2	1	2	3	2.033829	Q9Y2P0	ZN835_HUMAN		2	1242	-			B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	1	1	hg19	c.1011C>T	CCDS56105.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001005850			26	25		109	106	1		1	0		0	0	32	0		1	3.998731e-02	0	0	0	2	0	26	109
ZNF835	90485	broad.mit.edu	37	19	57175850	57175850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TGCGCTGGTGCTCTATCAGGG	0.687																																						ENST00000537055.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(715-717)gaG>gaA		zinc finger protein 835							37.0	36.0	37.0					19																	57175850		2203	4300	6503	SO:0001819	synonymous_variant	90485	0	0					g.chr19:57175850C>T	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.717G>A	chr19.hg19:g.57175850C>T		0						p.E239E	NM_001005850.2	NP_001005850.2	1	2	3	2.033829	Q9Y2P0	ZN835_HUMAN		2	948	-			B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	1	1	hg19	c.717G>A	CCDS56105.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	0		2	2	2	0		0	0	48		48	45	1	2.060000	-20.000000	1	0.170000	NM_001005850			39	38		163	159	1		1	0		0	0	48	0		1	0	0	0	0	1	0	39	163
ZNF835	90485	broad.mit.edu	37	19	57176546	57176546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTGGAGGGCGACGCTCAAGA	0.512																																						ENST00000537055.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(19-21)gtC>gtT		zinc finger protein 835							62.0	64.0	63.0					19																	57176546		1965	4147	6112	SO:0001819	synonymous_variant	90485	0	0					g.chr19:57176546G>A	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.21C>T	chr19.hg19:g.57176546G>A		0						p.V7V	NM_001005850.2	NP_001005850.2	1	2	3	2.033829	Q9Y2P0	ZN835_HUMAN		2	252	-			B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	1	1	hg19	c.21C>T	CCDS56105.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_001005850			65	64		241	239	1		1	0		0	0	56	0		1	5.355789e-01	0	0	0	8	0	65	241
ZIM2	23619	broad.mit.edu	37	19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	314					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)			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)		CTCGTACATATTCCAGGAGCA	0.443																																						ENST00000391708.3	1.000000	0.280000	7.300000e-01	3.800000e-01	0.500000	0.560153	0.500000	0.460000																										0				44						c.(940-942)Ata>Gta		zinc finger, imprinted 2							134.0	125.0	128.0					19																	57286700		2203	4300	6503	SO:0001583	missense	23619	0	0					g.chr19:57286700T>C	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.940A>G	chr19.hg19:g.57286700T>C	ENSP00000375589:p.Ile314Val	0					AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V	p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	1	2	3	2.033829	Q9NZV7	ZIM2_HUMAN		12	1482	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	0	1	hg19	c.940A>G	CCDS33123.1	0	.	.	.	.	.	.	.	.	.	.	T	2.426	-0.331942	0.05314	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04049	3.72;3.72	3.69	-1.2	0.09554	3.69	-1.2	0.09554	.	.	.	.	.	T	0.02649	0.0080	N	0.12182	0.205	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.39210	-0.9625	8	0.72032	D	0.01	.	4.196	0.10443	0.0:0.4099:0.2051:0.385	.	314	Q9NZV7	ZIM2_HUMAN	V	314	ENSP00000375589:I314V;ENSP00000221722:I314V	ENSP00000221722:I314V	I	-	1	0	0	ZIM2	61978512	61978512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-0.301000	0.08882	0.533000	0.62120	ATA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-16.562560	1	0.170000				16	16		389	378	0		1			0	0	64	0		9.999207e-01	0	0	0	0	0	0	16	389
PEG3	5178	broad.mit.edu	37	19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1556					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)			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)		AGCTTGATTGGCACCACCTGT	0.527																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				170						c.(4666-4668)gCc>gAc		paternally expressed 3							137.0	117.0	124.0					19																	57325143		2203	4300	6503	SO:0001583	missense	5178	0	0					g.chr19:57325143G>T	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.4667C>A	chr19.hg19:g.57325143G>T	ENSP00000326581:p.Ala1556Asp	0					PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.A1556D	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		10	5030	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.4667C>A	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746288	0.30955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	4.09	-0.906	0.10524	4.09	-0.906	0.10524	.	1.506540	0.04129	N	0.317640	T	0.02533	0.0077	N	0.19112	0.55	.	.	.	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.25140	0.058;0.058;0.058	T	0.46162	-0.9211	9	0.59425	D	0.04	-1.6917	5.2732	0.15636	0.0:0.2984:0.2608:0.4407	.	1432;1556;1491	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1556	ENSP00000326581:A1556D;ENSP00000403051:A1556D	ENSP00000326581:A1556D	A	-	2	0	0	ZIM2	62016955	62016955	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.421000	0.07053	-0.052000	0.13311	0.591000	0.81541	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				60	58		327	323	1		1	0		0	0	64	0		1	4.228616e-01	0	0	0	9	0	60	327
PEG3	5178	broad.mit.edu	37	19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	812					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)			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)		ATGGTTGATAGCATCGAAGCT	0.468																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				170						c.(2434-2436)gCt>gTt		paternally expressed 3							138.0	132.0	134.0					19																	57327375		2203	4300	6503	SO:0001583	missense	5178	0	0					g.chr19:57327375G>A	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.2435C>T	chr19.hg19:g.57327375G>A	ENSP00000326581:p.Ala812Val	0					PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.A812V	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		10	2798	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.2435C>T	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643516	0.14451	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.11	-8.05	0.01106	4.11	-8.05	0.01106	.	2.028870	0.02362	N	0.077017	T	0.00815	0.0027	N	0.00146	-1.995	.	.	.	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.51996	-0.8634	9	0.33940	T	0.23	-1.3044	9.2396	0.37489	0.1962:0.2458:0.558:0.0	.	688;812;747	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	812	ENSP00000326581:A812V;ENSP00000403051:A812V	ENSP00000326581:A812V	A	-	2	0	0	ZIM2	62019187	62019187	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.000000	0.12993	-1.984000	0.00985	-0.482000	0.04802	GCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000				159	159		653	641	1		1	0		0	0	141	0		1	4.858609e-01	0	0	0	8	0	159	653
PEG3	5178	broad.mit.edu	37	19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	543					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)			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)		GGCATGAAGGCTTCCTCACAT	0.448																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				170						c.(1627-1629)Gcc>Acc		paternally expressed 3							172.0	168.0	169.0					19																	57328183		2203	4300	6503	SO:0001583	missense	5178	0	0					g.chr19:57328183C>T	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.1627G>A	chr19.hg19:g.57328183C>T	ENSP00000326581:p.Ala543Thr	0					PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.A543T	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		10	1990	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.1627G>A	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201525	0.09652	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01613	4.73;4.73	4.14	-3.55	0.04639	4.14	-3.55	0.04639	.	0.757041	0.11677	N	0.540227	T	0.00724	0.0024	N	0.03324	-0.35	.	.	.	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.46020	-0.9221	9	0.24483	T	0.36	-4.8432	2.2561	0.04055	0.1053:0.1573:0.3212:0.4162	.	419;543;478	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	543;543;513	ENSP00000326581:A543T;ENSP00000403051:A543T	ENSP00000292074:A513T	A	-	1	0	0	ZIM2	62019995	62019995	0.000000	0.05858	0.162000	0.22713	0.559000	0.35586	-1.296000	0.02762	-0.454000	0.07066	-0.355000	0.07637	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-20.000000	1	0.170000				162	157		757	744	1		1	0		0	0	163	0		1	4.900794e-01	0	0	0	9	0	162	757
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					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)			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)		CTGTGACTCGGTAAAGGAGGG	0.498																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				170						c.(1318-1320)aCc>aTc		paternally expressed 3							166.0	156.0	159.0					19																	57328491		2203	4300	6503	SO:0001583	missense	5178	0	0					g.chr19:57328491G>A	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.1319C>T	chr19.hg19:g.57328491G>A	ENSP00000326581:p.Thr440Ile	0					PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.T440I	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		10	1682	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.1319C>T	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339049	0.11069	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02837	4.14;4.14	4.14	2.02	0.26589	4.14	2.02	0.26589	.	0.972834	0.08419	N	0.948615	T	0.01592	0.0051	L	0.27053	0.805	.	.	.	B;B;P	0.46395	0.08;0.005;0.877	B;B;B	0.36030	0.027;0.005;0.216	T	0.12142	-1.0559	9	0.02654	T	1	-3.6534	2.948	0.05852	0.0984:0.1807:0.5344:0.1866	.	316;440;375	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	440;440;410	ENSP00000326581:T440I;ENSP00000403051:T440I	ENSP00000292074:T410I	T	-	2	0	0	ZIM2	62020303	62020303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.686000	0.25392	0.714000	0.32081	-0.127000	0.14921	ACC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0	0	1		21	2	2	0		0	1	124		124	122	1	2.060000	-20.000000	1	0.170000				140	138		660	645	1		1	0		0	0	124	0		1	3.558149e-01	0	0	0	7	0	140	660
PEG3	5178	broad.mit.edu	37	19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					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)			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)		AACCTAAAGCCTCCCCTAAAT	0.438																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				170						c.(1120-1122)Ggc>Agc		paternally expressed 3							87.0	89.0	88.0					19																	57328690		2203	4300	6503	SO:0001583	missense	5178	0	0					g.chr19:57328690C>T	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.1120G>A	chr19.hg19:g.57328690C>T	ENSP00000326581:p.Gly374Ser	0					PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.G374S	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		10	1483	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.1120G>A	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013665	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	3.23	0.37069	4.25	3.23	0.37069	.	0.309838	0.23567	N	0.046799	T	0.01661	0.0053	N	0.20986	0.625	.	.	.	B;B;B	0.33528	0.416;0.416;0.379	B;B;B	0.28638	0.092;0.092;0.07	T	0.46400	-0.9194	9	0.17369	T	0.5	-28.0444	10.2656	0.43453	0.0:0.9022:0.0:0.0977	.	250;374;309	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	374;374;344	ENSP00000326581:G374S;ENSP00000403051:G374S	ENSP00000292074:G344S	G	-	1	0	0	ZIM2	62020502	62020502	0.000000	0.05858	0.137000	0.22149	0.844000	0.47949	0.255000	0.18333	1.389000	0.46526	0.655000	0.94253	GGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				117	116		536	532	1		1	0		0	0	80	0		1	0	0	0	0	1	0	117	536
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A201V(2)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532																																						ENST00000326441.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.A201V(2)|p.A76V(1)	large_intestine(3)	170						c.(601-603)gCg>gTg		paternally expressed 3		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176.0	157.0	164.0		602,224,602,227,227,227,602,227	2.0	0.0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	64,64,64,64,64,64,64,64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	201/1589,75/1463,201/1589,76/1465,76/528,76/528,201/1589,76/528	57333086	3,13003	2203	4300	6503	SO:0001583	missense	5178	5	121412	41				g.chr19:57333086G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.602C>T	chr19.hg19:g.57333086G>A	ENSP00000326581:p.Ala201Val	0					PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V	p.A201V	NM_006210.2	NP_006201.1	1	2	3	2.033829	Q9GZU2	PEG3_HUMAN		7	965	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	1	1	hg19	c.602C>T	CCDS12948.1	1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	0	ZIM2	62024898	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1		19	2	2	1		1	1	148		148	146	1	2.060000	-3.509898	1	0.170000				158	156		655	647	1		1	0		1	0	148	0		1	6.613996e-01	0	0	0	11	0	158	655
ZIM3	114026	broad.mit.edu	37	19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)		CTATCTGGAGTGAATTCTTTT	0.423																																						ENST00000269834.1	1.000000	0.240000	6.500000e-01	3.200000e-01	0.430000	0.505972	0.430000	0.410000																										0				52						c.(1408-1410)cAc>cCc		zinc finger, imprinted 3							104.0	103.0	103.0					19																	57646296		2203	4300	6503	SO:0001583	missense	114026	0	0					g.chr19:57646296T>G	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.1409A>C	chr19.hg19:g.57646296T>G	ENSP00000269834:p.His470Pro	0					U3_ENST00000516874.1_RNA	p.H470P	NM_052882.1	NP_443114.1	1	2	3	2.033829	Q96PE6	ZIM3_HUMAN		5	1794	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	1	1	hg19	c.1409A>C	CCDS33125.1	0	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075839	0.36662	.	.	ENSG00000141946	ENST00000269834	T	0.10005	2.92	2.27	1.19	0.21007	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	H	0.94542	3.55	0.26154	N	0.980096	P	0.46020	0.871	P	0.47891	0.56	T	0.15235	-1.0444	9	0.87932	D	0	.	5.3816	0.16194	0.0:0.0:0.2927:0.7073	.	470	Q96PE6	ZIM3_HUMAN	P	470	ENSP00000269834:H470P	ENSP00000269834:H470P	H	-	2	0	0	ZIM3	62338108	62338108	0.999000	0.42202	0.109000	0.21407	0.405000	0.30901	1.731000	0.38135	0.268000	0.21939	0.260000	0.18958	CAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.751188	1	0.170000				15	14		422	414	0		1			0	0	96	0		9.998553e-01	0	0	0	0	0	0	15	422
ZIM3	114026	broad.mit.edu	37	19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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)			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)		AGGATGATTTCCAGGAAAAGG	0.373																																						ENST00000269834.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(784-786)tgG>tgA		zinc finger, imprinted 3							119.0	117.0	118.0					19																	57646919		2203	4300	6503	SO:0001587	stop_gained	114026	1	121410	31				g.chr19:57646919C>T	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.786G>A	chr19.hg19:g.57646919C>T	ENSP00000269834:p.Trp262*	0					U3_ENST00000516874.1_RNA	p.W262*	NM_052882.1	NP_443114.1	1	2	3	2.033829	Q96PE6	ZIM3_HUMAN		5	1171	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	0	1	hg19	c.786G>A	CCDS33125.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	-2.56	0.06268	2.53	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3943	0.26927	0.0:0.2886:0.0:0.7114	.	.	.	.	X	262	.	ENSP00000269834:W262X	W	-	3	0	0	ZIM3	62338731	62338731	0.000000	0.05858	0.148000	0.22405	0.499000	0.33736	-2.059000	0.01393	-0.357000	0.08175	0.313000	0.20887	TGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000				122	115		477	469	0		1			0	0	109	0		1	0	0	0	0	0	0	122	477
ZNF264	9422	broad.mit.edu	37	19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	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)			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)		GCCACCTAGAGCATGGGCAGG	0.522																																						ENST00000263095.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				27						c.(199-201)gaG>gaT		zinc finger protein 264							60.0	48.0	52.0					19																	57716805		2203	4300	6503	SO:0001583	missense	9422	0	0					g.chr19:57716805G>T	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.201G>T	chr19.hg19:g.57716805G>T	ENSP00000263095:p.Glu67Asp	0					ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	p.E67D	NM_003417.4	NP_003408.1	1	2	3	2.033829	O43296	ZN264_HUMAN		3	615	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	1	1	hg19	c.201G>T	CCDS33127.1	1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511876	0.12944	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01113	5.32;5.32	2.62	-2.2	0.06994	2.62	-2.2	0.06994	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45086	-0.9285	9	0.56958	D	0.05	.	3.385	0.07268	0.4793:0.0:0.331:0.1897	.	67	O43296	ZN264_HUMAN	D	67	ENSP00000263095:E67D;ENSP00000440376:E67D	ENSP00000263095:E67D	E	+	3	2	2	ZNF264	62408617	62408617	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.380000	0.07894	-1.863000	0.00559	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000				19	18		62	60	1		1	0		0	0	18	0		9.999948e-01	8.883768e-01	0	0	0	15	0	19	62
ZNF264	9422	broad.mit.edu	37	19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)		GGATTGGACAGGAGCAAGTCT	0.468																																						ENST00000263095.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(517-519)caG>caT		zinc finger protein 264							104.0	94.0	98.0					19																	57722984		2203	4300	6503	SO:0001583	missense	9422	0	0					g.chr19:57722984G>T	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.519G>T	chr19.hg19:g.57722984G>T	ENSP00000263095:p.Gln173His	0					ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	p.Q173H	NM_003417.4	NP_003408.1	1	2	3	2.033829	O43296	ZN264_HUMAN		4	933	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	1	1	hg19	c.519G>T	CCDS33127.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898262	0.33535	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.28069	1.63;1.63	2.35	1.19	0.21007	2.35	1.19	0.21007	.	.	.	.	.	T	0.13114	0.0318	N	0.10664	0.02	0.25288	N	0.98938	P	0.36438	0.553	B	0.38712	0.28	T	0.18808	-1.0325	9	0.02654	T	1	.	7.8941	0.29695	0.1559:0.0:0.8441:0.0	.	173	O43296	ZN264_HUMAN	H	173	ENSP00000263095:Q173H;ENSP00000440376:Q173H	ENSP00000263095:Q173H	Q	+	3	2	2	ZNF264	62414796	62414796	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	-0.111000	0.10807	0.461000	0.27071	-0.378000	0.06908	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				61	58		221	216	1		1	0		0	0	71	0		1	9.356232e-01	0	0	0	19	0	61	221
ZNF264	9422	broad.mit.edu	37	19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	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)			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)		CAAGTCTTTCGACATAGGCCA	0.493																																						ENST00000263095.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(973-975)cGa>cAa		zinc finger protein 264							72.0	73.0	73.0					19																	57723439		2203	4300	6503	SO:0001583	missense	9422	2	121410	33				g.chr19:57723439G>A	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.974G>A	chr19.hg19:g.57723439G>A	ENSP00000263095:p.Arg325Gln	0					ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	p.R325Q	NM_003417.4	NP_003408.1	1	2	3	2.033829	O43296	ZN264_HUMAN		4	1388	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	1	1	hg19	c.974G>A	CCDS33127.1	1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761333	0.31228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18338	2.22;2.22	2.26	0.026	0.14148	2.26	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	L	0.53729	1.69	0.22610	N	0.998931	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.36615	T	0.2	.	4.9234	0.13882	0.4825:0.0:0.5175:0.0	.	325	O43296	ZN264_HUMAN	Q	325	ENSP00000263095:R325Q;ENSP00000440376:R325Q	ENSP00000263095:R325Q	R	+	2	0	0	ZNF264	62415251	62415251	0.000000	0.05858	0.100000	0.21137	0.674000	0.39518	0.312000	0.19397	0.084000	0.17077	-0.339000	0.08088	CGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-20.000000	1	0.170000				59	57		258	256	1		1	0		0	0	57	0		1	6.370922e-01	0	0	0	11	0	59	258
AURKC	6795	broad.mit.edu	37	19	57746274	57746274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000448930.1_Silent_p.L169L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	203	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)			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)		GTGTGGGACACTGGACTACTT	0.483																																						ENST00000302804.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(607-609)Ctg>Ttg		aurora kinase C							123.0	103.0	110.0					19																	57746274		2203	4300	6503	SO:0001819	synonymous_variant	6795	0	0					g.chr19:57746274C>T		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.607C>T	chr19.hg19:g.57746274C>T		0					AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000448930.1_Silent_p.L169L	p.L203L	NM_001015878.1	NP_001015878.1	1	2	3	2.033829	Q9UQB9	AURKC_HUMAN		6	793	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	1	1	hg19	c.607C>T	CCDS33128.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_003160			41	40		187	185	1		1	0		0	0	51	0		1	3.024097e-01	0	0	0	6	0	41	187
ZNF460	10794	broad.mit.edu	37	19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	87	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)			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)		TCCCAAGATACTCCTATTTGG	0.522																																						ENST00000360338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(259-261)taC>taA		zinc finger protein 460							75.0	71.0	72.0					19																	57802170		2203	4300	6503	SO:0001587	stop_gained	10794	0	0					g.chr19:57802170C>A	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.261C>A	chr19.hg19:g.57802170C>A	ENSP00000353491:p.Tyr87*	0					ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	p.Y87*	NM_006635.3	NP_006626.3	1	2	3	2.033829	Q14592	ZN460_HUMAN		3	583	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Nonsense_Mutation	SNP	ENST00000360338.3	0	1	hg19	c.261C>A	CCDS12949.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702427	0.48307	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	.	.	.	2.06	2.06	0.26882	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.8591	0.18736	0.3126:0.6874:0.0:0.0	.	.	.	.	X	46;87	.	ENSP00000353491:Y87X	Y	+	3	2	2	ZNF460	62493982	62493982	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.366000	0.20365	1.132000	0.42129	0.650000	0.86243	TAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_006635			76	76		292	290	1		1	0		0	0	85	0		1	2.798648e-01	0	1	0	4	0	76	292
BSG	682	broad.mit.edu	37	19	578071	578071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	122					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGACCCGGGCGCCCAGGGTC	0.687																																						ENST00000333511.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(364-366)gCg>gTg		basigin (Ok blood group)																																				SO:0001583	missense	682	4	120152	30				g.chr19:578071C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.365C>T	chr19.hg19:g.578071C>T	ENSP00000333769:p.Ala122Val	0					BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR	p.A122V	NM_001728.3	NP_001719.2	1	2	3	2.010022	P35613	BASI_HUMAN		2	435	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	1	1	hg19	c.365C>T	CCDS12033.1	1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018309	0.35606	.	.	ENSG00000172270	ENST00000333511	T	0.60040	0.22	2.86	-0.386	0.12466	2.86	-0.386	0.12466	.	0.880482	0.09736	N	0.762478	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	P	0.51057	0.941	B	0.24701	0.055	T	0.16719	-1.0393	10	0.16896	T	0.51	-0.2264	4.1335	0.10160	0.0:0.3412:0.3477:0.3111	.	122	P35613	BASI_HUMAN	V	122	ENSP00000333769:A122V	ENSP00000333769:A122V	A	+	2	0	0	BSG	529071	529071	0.001000	0.12720	0.817000	0.32601	0.975000	0.68041	-0.018000	0.12568	0.286000	0.22352	0.462000	0.41574	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_001728			27	27		102	100	1		1	1		0	0	21	0		1	2.921728e-01	0	2	0	3	0	27	102
ZNF460	10794	broad.mit.edu	37	19	57802419	57802419	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	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)			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)		GGGAAAATTCCTATAAATTCG	0.413																																						ENST00000360338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(508-510)tcC>tcA		zinc finger protein 460							110.0	110.0	110.0					19																	57802419		2203	4300	6503	SO:0001819	synonymous_variant	10794	0	0					g.chr19:57802419C>A	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.510C>A	chr19.hg19:g.57802419C>A		0					ZNF460_ENST00000537645.1_Silent_p.S129S	p.S170S	NM_006635.3	NP_006626.3	1	2	3	2.033829	Q14592	ZN460_HUMAN		3	832	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	1	1	hg19	c.510C>A	CCDS12949.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-2.942025	1	0.170000	NM_006635			138	135		579	569	1		1	0		0	0	119	0		1	3.748652e-02	0	1	0	1	0	138	579
ZNF543	125919	broad.mit.edu	37	19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507																																						ENST00000321545.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(364-366)aaG>aaT		zinc finger protein 543							62.0	65.0	64.0					19																	57839196		2203	4300	6503	SO:0001583	missense	125919	0	0					g.chr19:57839196G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.366G>T	chr19.hg19:g.57839196G>T	ENSP00000322545:p.Lys122Asn	0						p.K122N	NM_213598.3	NP_998763.2	1	2	3	2.033829	Q08ER8	ZN543_HUMAN		4	711	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	1	1	hg19	c.366G>T	CCDS33130.1	1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217578	0.06101	.	.	ENSG00000178229	ENST00000321545	T	0.27890	1.64	2.87	0.42	0.16444	2.87	0.42	0.16444	.	.	.	.	.	T	0.18509	0.0444	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	9	0.27082	T	0.32	.	5.6372	0.17544	0.1319:0.2037:0.6644:0.0	.	122	Q08ER8	ZN543_HUMAN	N	122	ENSP00000322545:K122N	ENSP00000322545:K122N	K	+	3	2	2	ZNF543	62531008	62531008	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.122000	0.15687	0.544000	0.28883	0.555000	0.69702	AAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	XM_064865			53	52		233	226	1		1	0		0	0	59	0		1	5.815197e-01	0	0	0	10	0	53	233
PRR22	163154	broad.mit.edu	37	19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	69										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667																																						ENST00000419421.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.998352	0.990000	1.000000																										0				5						c.(205-207)gCc>gTc		proline rich 22							24.0	32.0	30.0					19																	5784052		2175	4276	6451	SO:0001583	missense	163154	0	0					g.chr19:5784052G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.206C>T	chr19.hg19:g.5784052G>A	ENSP00000407653:p.Ala69Val	0					CTB-54O9.9_ENST00000586012.1_3'UTR	p.A69V	NM_001134316.1	NP_001127788.1	1	2	3	2.010022	Q8IZ63	PRR22_HUMAN		3	310	-			E9PB31	Missense_Mutation	SNP	ENST00000419421.2	1	1	hg19	c.206C>T	CCDS45933.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113600	0.77210	.	.	ENSG00000212123	ENST00000419421	T	0.25912	1.77	4.58	4.58	0.56647	4.58	4.58	0.56647	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.33362	D	0.57249	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46317	-0.9200	9	0.66056	D	0.02	-12.7944	8.4815	0.33045	0.1051:0.0:0.8949:0.0	.	69;67	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	69	ENSP00000407653:A69V	ENSP00000407653:A69V	A	-	2	0	0	PRR22	5735052	5735052	1.000000	0.71417	0.949000	0.38748	0.910000	0.53928	4.060000	0.57477	2.373000	0.80994	0.491000	0.48974	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	1	0	1		2	2	2	0		0	0	84		84	80	1	2.060000	-20.000000	1	0.170000	NM_153359			49	49		399	395	0		1	0		0	0	84	0		1	1.377901e-01	0	1	0	5	0	49	399
DUS3L	56931	broad.mit.edu	37	19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	522							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGCAGGGCGCCACTGTGGGA	0.662																																						ENST00000309061.7	1.000000	0.880000	1	9.900000e-01	0.990000	0.993173	0.990000	1.000000																										0				14						c.(1564-1566)gGc>gAc		dihydrouridine synthase 3-like (S. cerevisiae)							24.0	18.0	20.0					19																	5785800		2193	4288	6481	SO:0001583	missense	56931	0	0					g.chr19:5785800C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1565G>A	chr19.hg19:g.5785800C>T	ENSP00000311977:p.Gly522Asp	0					CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	p.G522D	NM_020175.2	NP_064560.2	1	2	3	2.010022	Q96G46	DUS3L_HUMAN		11	1661	-			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	0	1	hg19	c.1565G>A	CCDS32880.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549753	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.40756	1.02;1.02	4.26	4.26	0.50523	4.26	4.26	0.50523	Aldolase-type TIM barrel (1);	0.057290	0.64402	D	0.000001	T	0.78666	0.4319	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87769	0.2604	10	0.87932	D	0	-12.2158	14.212	0.65771	0.0:1.0:0.0:0.0	.	280;522	Q96G46-3;Q96G46	.;DUS3L_HUMAN	D	522;280	ENSP00000311977:G522D;ENSP00000315558:G280D	ENSP00000311977:G522D	G	-	2	0	0	DUS3L	5736800	5736800	1.000000	0.71417	0.606000	0.28943	0.306000	0.27790	7.411000	0.80078	1.947000	0.56498	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-17.330590	1	0.170000	NM_020175			9	9		50	50	0		1	1		0	0	8	0		9.954557e-01	9.998887e-01	0	16	0	98	0	9	50
ZNF543	125919	broad.mit.edu	37	19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493																																						ENST00000321545.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1243-1245)cGg>cAg		zinc finger protein 543							99.0	75.0	83.0					19																	57840074		2203	4300	6503	SO:0001583	missense	125919	4	121412	36				g.chr19:57840074G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1244G>A	chr19.hg19:g.57840074G>A	ENSP00000322545:p.Arg415Gln	0						p.R415Q	NM_213598.3	NP_998763.2	1	2	3	2.033829	Q08ER8	ZN543_HUMAN		4	1589	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	1	1	hg19	c.1244G>A	CCDS33130.1	1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274758	0.40194	.	.	ENSG00000178229	ENST00000321545	T	0.24723	1.84	2.89	1.81	0.25067	2.89	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.38692	1.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09530	-1.0670	9	0.87932	D	0	.	5.2016	0.15267	0.1188:0.0:0.6736:0.2076	.	415	Q08ER8	ZN543_HUMAN	Q	415	ENSP00000322545:R415Q	ENSP00000322545:R415Q	R	+	2	0	0	ZNF543	62531886	62531886	0.000000	0.05858	0.172000	0.22920	0.509000	0.34042	-0.031000	0.12287	0.510000	0.28216	-0.310000	0.09108	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	1	0	1		2	2	2	1		1	0	70		70	70	1	2.060000	-3.164834	1	0.170000	XM_064865			47	47		245	240	1		1	1		1	0	70	0		1	6.016535e-01	0	5	0	7	0	47	245
ZNF304	57343	broad.mit.edu	37	19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000282286.5	+	3	969	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAAATCAGCTCTTATTAATCA	0.433																																						ENST00000282286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(796-798)Ctt>Att		zinc finger protein 304							91.0	89.0	90.0					19																	57868033		2203	4300	6503	SO:0001583	missense	57343	0	0					g.chr19:57868033C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.796C>A	chr19.hg19:g.57868033C>A	ENSP00000282286:p.Leu266Ile	0					ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I|ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I	p.L266I			1	2	3	2.033829	Q9HCX3	ZN304_HUMAN		3	969	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000282286.5	1	1	hg19	c.796C>A	CCDS12950.1	1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.307999	0.40895	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.7	2.67	0.31697	3.7	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	M	0.89534	3.04	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.25140	0.058;0.015	T	0.42515	-0.9447	9	0.72032	D	0.01	.	10.8293	0.46650	0.0:0.9012:0.0:0.0988	.	266;313	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	266;266;313	ENSP00000282286:L266I;ENSP00000375586:L266I;ENSP00000401642:L313I	ENSP00000282286:L266I	L	+	1	0	0	ZNF304	62559845	62559845	0.000000	0.05858	0.008000	0.14137	0.578000	0.36192	-0.166000	0.09954	1.150000	0.42419	0.454000	0.30748	CTT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				61	55		327	320	1		1	0		0	0	58	0		1	2.453848e-01	0	0	0	6	0	61	327
DUS3L	56931	broad.mit.edu	37	19	5786851	5786851	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Silent_p.H223H|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	465							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGAGCGGCCGTGGAGCTGGG	0.642																																						ENST00000309061.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				14						c.(1393-1395)caC>caT		dihydrouridine synthase 3-like (S. cerevisiae)							17.0	22.0	20.0					19																	5786851		2198	4293	6491	SO:0001819	synonymous_variant	56931	1	120686	24				g.chr19:5786851G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1395C>T	chr19.hg19:g.5786851G>A		0					CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Silent_p.H223H	p.H465H	NM_020175.2	NP_064560.2	1	2	3	2.010022	Q96G46	DUS3L_HUMAN		9	1491	-			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	0	1	hg19	c.1395C>T	CCDS32880.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_020175			20	20		76	74	1		1	1		0	0	10	0		9.999975e-01	9.986503e-01	0	13	0	32	0	20	76
ZNF304	57343	broad.mit.edu	37	19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000282286.5	+	3	1174	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	334				S -> P (in Ref. 1; CAC06610). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAAGATCTTATGACTGC	0.463																																						ENST00000282286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1000-1002)tCt>tTt		zinc finger protein 304							70.0	64.0	66.0					19																	57868238		2203	4300	6503	SO:0001583	missense	57343	0	0					g.chr19:57868238C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1001C>T	chr19.hg19:g.57868238C>T	ENSP00000282286:p.Ser334Phe	0					ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F|ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F	p.S334F			1	2	3	2.033829	Q9HCX3	ZN304_HUMAN		3	1174	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000282286.5	1	1	hg19	c.1001C>T	CCDS12950.1	1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359686	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15487	5.19;5.19;2.42	3.72	0.211	0.15236	3.72	0.211	0.15236	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26955	0.0660	M	0.62016	1.91	0.09310	N	1	P;D	0.67145	0.94;0.996	P;P	0.57548	0.459;0.823	T	0.11203	-1.0597	9	0.87932	D	0	.	4.4656	0.11687	0.159:0.5608:0.0:0.2802	.	334;381	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	334;334;381	ENSP00000282286:S334F;ENSP00000375586:S334F;ENSP00000401642:S381F	ENSP00000282286:S334F	S	+	2	0	0	ZNF304	62560050	62560050	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.325000	0.19628	0.156000	0.19299	-0.225000	0.12378	TCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				55	52		254	249	1		1	0		0	0	65	0		1	6.592925e-01	0	0	0	12	0	55	254
DUS3L	56931	broad.mit.edu	37	19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	199							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGGTCCCGCGGGCCGCCAA	0.716																																						ENST00000309061.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999384	0.990000	1.000000																										0				14						c.(595-597)cGc>cAc		dihydrouridine synthase 3-like (S. cerevisiae)							9.0	13.0	12.0					19																	5789522		2171	4259	6430	SO:0001583	missense	56931	10	119804	35				g.chr19:5789522C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.596G>A	chr19.hg19:g.5789522C>T	ENSP00000311977:p.Arg199His	0					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.R199H	NM_020175.2	NP_064560.2	1	2	3	2.010022	Q96G46	DUS3L_HUMAN		3	692	-			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	1	1	hg19	c.596G>A	CCDS32880.1	1	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181424	0.09495	.	.	ENSG00000141994	ENST00000309061	T	0.18174	2.23	3.46	-0.567	0.11763	3.46	-0.567	0.11763	.	0.476605	0.20383	N	0.093420	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	10	0.39692	T	0.17	-30.0716	6.8336	0.23923	0.0:0.3103:0.0:0.6897	.	199	Q96G46	DUS3L_HUMAN	H	199	ENSP00000311977:R199H	ENSP00000311977:R199H	R	-	2	0	0	DUS3L	5740522	5740522	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.723000	0.04952	-0.333000	0.08476	0.491000	0.48974	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000	NM_020175			17	17		90	90	0		1	0		0	0	19	0		9.999793e-01	4.474291e-01	0	1	0	8	0	17	90
DUS3L	56931	broad.mit.edu	37	19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	123							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGACACAGCCTGTTCTTG	0.612																																						ENST00000309061.7	1.000000	0.570000	1	7.200000e-01	0.910000	0.881700	0.910000	1.000000																										0				14						c.(367-369)Ctg>Atg		dihydrouridine synthase 3-like (S. cerevisiae)							84.0	84.0	84.0					19																	5790078		2203	4300	6503	SO:0001583	missense	56931	0	0					g.chr19:5790078G>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.367C>A	chr19.hg19:g.5790078G>T	ENSP00000311977:p.Leu123Met	0					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.L123M	NM_020175.2	NP_064560.2	1	2	3	2.010022	Q96G46	DUS3L_HUMAN		2	463	-			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	0	1	hg19	c.367C>A	CCDS32880.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331403	0.60853	.	.	ENSG00000141994	ENST00000309061	T	0.30981	1.51	4.74	0.0836	0.14434	4.74	0.0836	0.14434	Zinc finger, CCCH-type (1);	0.000000	0.64402	D	0.000003	T	0.51702	0.1690	M	0.84219	2.685	0.45415	D	0.998391	D	0.76494	0.999	D	0.72625	0.978	T	0.53753	-0.8394	10	0.72032	D	0.01	-14.9503	9.1683	0.37065	0.341:0.0:0.659:0.0	.	123	Q96G46	DUS3L_HUMAN	M	123	ENSP00000311977:L123M	ENSP00000311977:L123M	L	-	1	2	2	DUS3L	5741078	5741078	1.000000	0.71417	0.073000	0.20177	0.876000	0.50452	4.223000	0.58587	0.172000	0.19760	-0.794000	0.03295	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.999990	1	0.170000	NM_020175			20	19		246	239	1		1	1		0	0	58	0		9.999946e-01	9.889477e-01	0	12	0	80	0	20	246
ZNF304	57343	broad.mit.edu	37	19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000282286.5	+	3	1540	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473																																						ENST00000282286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1366-1368)tTt>tCt		zinc finger protein 304							82.0	80.0	80.0					19																	57868604		2203	4300	6503	SO:0001583	missense	57343	1	121412	29				g.chr19:57868604T>C	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1367T>C	chr19.hg19:g.57868604T>C	ENSP00000282286:p.Phe456Ser	0					ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S|ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S	p.F456S			1	2	3	2.033829	Q9HCX3	ZN304_HUMAN		3	1540	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000282286.5	1	1	hg19	c.1367T>C	CCDS12950.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145511	0.57044	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.47869	0.83;0.83;0.83	3.77	1.58	0.23477	3.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61677	0.2366	M	0.86740	2.835	0.26755	N	0.970128	D;D	0.63880	0.993;0.992	P;P	0.55999	0.789;0.638	T	0.53781	-0.8390	9	0.72032	D	0.01	.	5.4267	0.16429	0.1544:0.0917:0.0:0.7539	.	456;503	Q9HCX3;E7EQD3	ZN304_HUMAN;.	S	456;456;503	ENSP00000282286:F456S;ENSP00000375586:F456S;ENSP00000401642:F503S	ENSP00000282286:F456S	F	+	2	0	0	ZNF304	62560416	62560416	1.000000	0.71417	0.025000	0.17156	0.950000	0.60333	7.141000	0.77330	0.255000	0.21593	0.528000	0.53228	TTT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000				79	78		405	397	1		1	0		0	0	104	0		1	5.572168e-01	0	0	0	11	0	79	405
ZNF749	388567	broad.mit.edu	37	19	57954768	57954768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGAAGGCCCAGCCCTGCAAGA	0.522																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(250-252)caG>caA		zinc finger protein 749							84.0	75.0	78.0					19																	57954768		2203	4300	6503	SO:0001819	synonymous_variant	388567	0	0					g.chr19:57954768G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.252G>A	chr19.hg19:g.57954768G>A		0					AC004076.9_ENST00000596831.1_Intron	p.Q84Q	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	502	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Silent	SNP	ENST00000334181.4	1	1	hg19	c.252G>A	CCDS33132.2	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_001023561			54	54		181	180	1		1	0		0	0	54	0		1	1.377669e-01	0	0	0	3	0	54	181
ZNF749	388567	broad.mit.edu	37	19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	93	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)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGCTCAATTCTGAAGGACAT	0.512																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(277-279)Ctg>Atg		zinc finger protein 749							95.0	82.0	87.0					19																	57954793		2203	4300	6503	SO:0001583	missense	388567	0	0					g.chr19:57954793C>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.277C>A	chr19.hg19:g.57954793C>A	ENSP00000333980:p.Leu93Met	0					AC004076.9_ENST00000596831.1_Intron	p.L93M	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	527	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000334181.4	1	1	hg19	c.277C>A	CCDS33132.2	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523956	0.27299	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.61274	3.17;0.12	1.87	-2.06	0.07298	1.87	-2.06	0.07298	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59932	0.2230	M	0.61703	1.905	0.09310	N	1	D	0.56287	0.975	P	0.58013	0.831	T	0.50980	-0.8763	9	0.46703	T	0.11	.	2.2326	0.04000	0.2506:0.3665:0.0:0.3828	.	93	O43361	ZN749_HUMAN	M	93;6	ENSP00000333980:L93M;ENSP00000397745:L6M	ENSP00000333980:L93M	L	+	1	2	2	ZNF749	62646605	62646605	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.426000	0.01027	-0.683000	0.05190	0.313000	0.20887	CTG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001023561			56	56		211	209	1		1	0		0	0	63	0		1	1.159461e-01	0	1	0	2	0	56	211
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	rs562343206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(727-729)Cag>Tag		zinc finger protein 749							56.0	56.0	56.0					19																	57955243		2203	4300	6503	SO:0001587	stop_gained	388567	39	121412	46				g.chr19:57955243C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.727C>T	chr19.hg19:g.57955243C>T	ENSP00000333980:p.Gln243*	0					AC004076.9_ENST00000596831.1_Intron	p.Q243*	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	977	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Nonsense_Mutation	SNP	ENST00000334181.4	0	1	hg19	c.727C>T	CCDS33132.2	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	0	ZNF749	62647055	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.335180	1	0.170000	NM_001023561			52	52		222	215	1		1	0		0	0	73	0		1	9.749325e-02	0	0	0	3	0	52	222
ZNF749	388567	broad.mit.edu	37	19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	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)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTCTTTAGTCACCGCTCCACA	0.423																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1177-1179)cAc>cGc		zinc finger protein 749							101.0	101.0	101.0					19																	57955694		2203	4300	6503	SO:0001583	missense	388567	1	121412	34				g.chr19:57955694A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1178A>G	chr19.hg19:g.57955694A>G	ENSP00000333980:p.His393Arg	0					AC004076.9_ENST00000596831.1_Intron	p.H393R	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	1428	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000334181.4	1	1	hg19	c.1178A>G	CCDS33132.2	1	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015811	0.02078	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.556	0.11803	1.73	-0.556	0.11803	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02865	-0.47	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.42430	-0.9452	9	0.21540	T	0.41	.	6.2028	0.20585	0.5547:0.0:0.4453:0.0	.	393	O43361	ZN749_HUMAN	R	393	ENSP00000333980:H393R	ENSP00000333980:H393R	H	+	2	0	0	ZNF749	62647506	62647506	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-1.884000	0.01622	-0.249000	0.09569	0.164000	0.16699	CAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_001023561			81	76		409	399	1		1	0		0	0	93	0		1	7.463600e-02	0	1	0	2	0	81	409
ZNF749	388567	broad.mit.edu	37	19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGTCTTATGAGTGT	0.398																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2248-2250)tCt>tAt		zinc finger protein 749							104.0	109.0	107.0					19																	57956765		2203	4300	6503	SO:0001583	missense	388567	0	0					g.chr19:57956765C>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2249C>A	chr19.hg19:g.57956765C>A	ENSP00000333980:p.Ser750Tyr	0					AC004076.9_ENST00000596831.1_Intron	p.S750Y	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	2499	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000334181.4	1	1	hg19	c.2249C>A	CCDS33132.2	1	.	.	.	.	.	.	.	.	.	.	-	6.715	0.500702	0.12822	.	.	ENSG00000186230	ENST00000334181	T	0.01647	4.71	1.59	-0.791	0.10929	1.59	-0.791	0.10929	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.55103	1.725	0.09310	N	0.999996	B	0.23540	0.087	B	0.14578	0.011	T	0.39482	-0.9612	9	0.87932	D	0	.	5.8944	0.18931	0.0:0.55:0.0:0.45	.	750	O43361	ZN749_HUMAN	Y	750	ENSP00000333980:S750Y	ENSP00000333980:S750Y	S	+	2	0	0	ZNF749	62648577	62648577	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.050000	0.14120	-0.160000	0.11002	-0.657000	0.03884	TCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_001023561			83	82		409	401	1		1	0		0	0	93	0		1	2.919887e-02	0	1	0	1	0	83	409
ZNF749	388567	broad.mit.edu	37	19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C	rs541490509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTTAAATACAACTCCAGCCTC	0.408																																						ENST00000334181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2287-2289)aAc>aCc		zinc finger protein 749							94.0	99.0	97.0					19																	57956804		2203	4300	6503	SO:0001583	missense	388567	0	0					g.chr19:57956804A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2288A>C	chr19.hg19:g.57956804A>C	ENSP00000333980:p.Asn763Thr	0					AC004076.9_ENST00000596831.1_Intron	p.N763T	NM_001023561.2	NP_001018855.2	1	2	3	2.033829	O43361	ZN749_HUMAN		3	2538	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		Missense_Mutation	SNP	ENST00000334181.4	1	1	hg19	c.2288A>C	CCDS33132.2	1	.	.	.	.	.	.	.	.	.	.	-	7.354	0.623424	0.14193	.	.	ENSG00000186230	ENST00000334181	T	0.01572	4.76	1.22	-0.00992	0.13998	1.22	-0.00992	0.13998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.35487	1.065	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49244	-0.8960	9	0.20046	T	0.44	.	2.5274	0.04695	0.3435:0.2964:0.3602:0.0	.	763	O43361	ZN749_HUMAN	T	763	ENSP00000333980:N763T	ENSP00000333980:N763T	N	+	2	0	0	ZNF749	62648616	62648616	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.267000	0.01170	-0.063000	0.13065	0.172000	0.16884	AAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	0		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_001023561			71	71		381	374	1		1	0		0	0	102	0		1	2.443880e-01	0	1	0	5	0	71	381
ZNF419	79744	broad.mit.edu	37	19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000221735.7	+	5	1064	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000424930.2_Missense_Mutation_p.G294E|ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AGTGAATGTGGAAAAGCTTTC	0.418																																						ENST00000221735.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(877-879)gGa>gAa		zinc finger protein 419							91.0	90.0	90.0					19																	58004803		2203	4298	6501	SO:0001583	missense	79744	0	0					g.chr19:58004803G>A	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.878G>A	chr19.hg19:g.58004803G>A	ENSP00000221735:p.Gly293Glu	0					ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000424930.2_Missense_Mutation_p.G294E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E	p.G293E			1	2	3	2.033829	Q96HQ0	ZN419_HUMAN		5	1064	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	1	1	hg19	c.878G>A	CCDS54326.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947702	0.53186	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.22;2.01;2.01	2.43	1.37	0.22104	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34193	0.0889	L	0.45470	1.425	0.34922	D	0.748533	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.995;1.0;0.995	P;D;D;D;P;D;P	0.97110	0.665;0.999;1.0;0.999;0.833;0.999;0.833	T	0.46735	-0.9170	9	0.62326	D	0.03	.	8.495	0.33123	0.1393:0.0:0.8607:0.0	.	247;247;280;281;294;261;293	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	268;294;281;281;280;294;261;247;293	ENSP00000388864:G294E;ENSP00000390916:G281E;ENSP00000346136:G281E;ENSP00000414709:G280E;ENSP00000299860:G261E;ENSP00000392129:G247E;ENSP00000221735:G293E	ENSP00000221735:G293E	G	+	2	0	0	ZNF419	62696615	62696615	0.998000	0.40836	0.437000	0.26809	0.921000	0.55340	2.382000	0.44345	1.340000	0.45581	0.205000	0.17691	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	1	0	0		2	2	2	0		0	0	106		106	107	1	2.060000	-20.000000	1	0.170000	NM_024691			88	86		388	380	1		1	0		0	0	106	0		1	1.600752e-01	0	0	0	4	0	88	388
ZNF773	374928	broad.mit.edu	37	19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		ATGTGGGAAAGCCTTTGGTCA	0.453																																						ENST00000282292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(595-597)Gcc>Acc		zinc finger protein 773							56.0	56.0	56.0					19																	58018058		2203	4299	6502	SO:0001583	missense	374928	0	0					g.chr19:58018058G>A	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.595G>A	chr19.hg19:g.58018058G>A	ENSP00000282292:p.Ala199Thr	0					ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	p.A199T	NM_198542.1	NP_940944.1	1	2	3	2.033829	Q6PK81	ZN773_HUMAN		4	735	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	1	1	hg19	c.595G>A	CCDS33134.1	1	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522152	0.04171	.	.	ENSG00000152439	ENST00000282292	T	0.00848	5.62	1.25	1.25	0.21368	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	N	0.20845	0.615	0.09310	N	1	B;P	0.34562	0.095;0.457	B;B	0.31390	0.026;0.129	T	0.48801	-0.9003	9	0.26408	T	0.33	.	3.5081	0.07698	0.0:0.2776:0.442:0.2804	.	198;199	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	T	199	ENSP00000282292:A199T	ENSP00000282292:A199T	A	+	1	0	0	ZNF773	62709870	62709870	0.000000	0.05858	0.027000	0.17364	0.680000	0.39746	-2.333000	0.01108	0.992000	0.38840	0.313000	0.20887	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	1	0	1		2	2	2	0		0	0	71		71	74	1	2.060000	-20.000000	1	0.170000	NM_198542			54	52		247	240	1		1	0		0	0	71	0		1	0	0	0	0	1	0	54	247
ZNF773	374928	broad.mit.edu	37	19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	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)			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)		TTTCGCCACAGCTCCAGTCTT	0.413																																						ENST00000282292.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1279-1281)aGc>aAc		zinc finger protein 773							64.0	67.0	66.0					19																	58018743		2203	4300	6503	SO:0001583	missense	374928	0	0					g.chr19:58018743G>A	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.1280G>A	chr19.hg19:g.58018743G>A	ENSP00000282292:p.Ser427Asn	0					ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	p.S427N	NM_198542.1	NP_940944.1	1	2	3	2.033829	Q6PK81	ZN773_HUMAN		4	1420	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	1	1	hg19	c.1280G>A	CCDS33134.1	1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493537	0.04322	.	.	ENSG00000152439	ENST00000282292	T	0.10477	2.87	1.03	-0.784	0.10954	1.03	-0.784	0.10954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	L	0.58510	1.815	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.38993	-0.9635	9	0.23302	T	0.38	.	5.3128	0.15839	0.4788:0.0:0.5212:0.0	.	426;427	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	N	427	ENSP00000282292:S427N	ENSP00000282292:S427N	S	+	2	0	0	ZNF773	62710555	62710555	0.000000	0.05858	0.097000	0.21041	0.949000	0.60115	-2.597000	0.00894	-0.237000	0.09739	0.305000	0.20034	AGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_198542			91	90		339	332	1		1	0		0	0	73	0		1	7.110999e-01	0	0	0	11	0	91	339
ZNF549	256051	broad.mit.edu	37	19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	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)			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)		AGAGGCTGAGGAGGCCCCTTC	0.463																																						ENST00000376233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(226-228)Gag>Tag		zinc finger protein 549							104.0	99.0	100.0					19																	58048598		2203	4300	6503	SO:0001587	stop_gained	256051	0	0					g.chr19:58048598G>T	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.226G>T	chr19.hg19:g.58048598G>T	ENSP00000365407:p.Glu76*	0					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	p.E76*	NM_001199295.1	NP_001186224	1	2	3	2.033829	Q6P9A3	ZN549_HUMAN		4	407	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	0	1	hg19	c.226G>T	CCDS56106.1	1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604444	0.66445	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.28	0.8	0.18672	2.28	0.8	0.18672	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.1166	0.10084	0.2989:0.0:0.7011:0.0	.	.	.	.	X	63;76	.	ENSP00000240719:E63X	E	+	1	0	0	ZNF549	62740410	62740410	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.050000	0.14120	0.260000	0.21731	0.655000	0.94253	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_153263			93	93		395	384	1		1	0		0	0	91	0		1	3.246837e-01	0	0	0	6	0	93	395
ZNF549	256051	broad.mit.edu	37	19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	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)			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)		TAAGCGTAGGGAATATGGGAA	0.368																																						ENST00000376233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(751-753)Gaa>Taa		zinc finger protein 549							71.0	73.0	72.0					19																	58049123		2203	4300	6503	SO:0001587	stop_gained	256051	0	0					g.chr19:58049123G>T	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.751G>T	chr19.hg19:g.58049123G>T	ENSP00000365407:p.Glu251*	0					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*	p.E251*	NM_001199295.1	NP_001186224	1	2	3	2.033829	Q6P9A3	ZN549_HUMAN		4	932	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	0	1	hg19	c.751G>T	CCDS56106.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339716	0.81911	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.62	-3.36	0.04913	2.62	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.5826	0.12266	0.2336:0.3431:0.4233:0.0	.	.	.	.	X	238;251	.	ENSP00000240719:E238X	E	+	1	0	0	ZNF549	62740935	62740935	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.119000	0.10676	-0.785000	0.04522	0.555000	0.69702	GAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_153263			101	100		445	437	1		1	0		0	0	109	0		1	6.315808e-01	0	0	0	11	0	101	445
ZNF550	162972	broad.mit.edu	37	19	58058796	58058796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000457177.1	-	4	996	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	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)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		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)		GCATGAGGTACGACCTGCGTT	0.512																																						ENST00000457177.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(814-816)tcG>tcA		zinc finger protein 550							127.0	105.0	113.0					19																	58058796		2203	4300	6503	SO:0001819	synonymous_variant	162972	8	121410	32				g.chr19:58058796C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.816G>A	chr19.hg19:g.58058796C>T		0					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF550_ENST00000506609.2_Silent_p.S231S	p.S272S			1	2	3	2.033829	Q7Z398	ZN550_HUMAN		4	996	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	1	0	hg19	c.816G>A		1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.880502	1	0.170000	NM_153231			70	69		260	257	1		1	0		0	0	52	0		1	7.124666e-01	0	0	0	11	0	70	260
ZNF550	162972	broad.mit.edu	37	19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000457177.1	-	4	444	c.264A>C	c.(262-264)caA>caC	p.Q88H	ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	88					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)|prostate(1)	7		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)		TGGTATGAACTTGTGCTCTGT	0.448																																						ENST00000457177.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(262-264)caA>caC		zinc finger protein 550							77.0	79.0	78.0					19																	58059348		2203	4300	6503	SO:0001583	missense	162972	0	0					g.chr19:58059348T>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.264A>C	chr19.hg19:g.58059348T>G	ENSP00000469679:p.Gln88His	0					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H	p.Q88H			1	2	3	2.033829	Q7Z398	ZN550_HUMAN		4	444	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	0	1	hg19	c.264A>C		1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314786	0.40996	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.22743	1.94;1.94	3.72	1.54	0.23209	3.72	1.54	0.23209	.	.	.	.	.	T	0.16085	0.0387	L	0.32530	0.975	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.16276	-1.0408	9	0.56958	D	0.05	.	3.8379	0.08902	0.0:0.1185:0.2194:0.6621	.	56	Q7Z398-2	.	H	88;56;47	ENSP00000446224:Q56H;ENSP00000422344:Q47H	ENSP00000446224:Q56H	Q	-	3	2	2	AC003682.1	62751160	62751160	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.094000	0.11094	0.138000	0.18790	0.533000	0.62120	CAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	0	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_153231			111	110		525	515	0		1	0		0	0	140	0		1	7.648182e-01	0	0	0	15	0	111	525
ZNF416	55659	broad.mit.edu	37	19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	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)			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)		GAGTTAAACAATGTTAGATCT	0.458																																						ENST00000196489.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1777-1779)aTt>aGt		zinc finger protein 416							157.0	151.0	153.0					19																	58083494		2203	4300	6503	SO:0001583	missense	55659	0	0					g.chr19:58083494A>C	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.1778T>G	chr19.hg19:g.58083494A>C	ENSP00000196489:p.Ile593Ser	0						p.I593S	NM_017879.1	NP_060349.1	1	2	3	2.033829	Q9BWM5	ZN416_HUMAN		4	2000	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	1	1	hg19	c.1778T>G	CCDS12954.1	1	.	.	.	.	.	.	.	.	.	.	A	8.822	0.937800	0.18206	.	.	ENSG00000083817	ENST00000196489	T	0.07444	3.19	3.15	-0.543	0.11851	3.15	-0.543	0.11851	.	.	.	.	.	T	0.06962	0.0177	L	0.39898	1.24	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.35525	-0.9785	9	0.87932	D	0	.	4.7548	0.13078	0.5167:0.3727:0.1106:0.0	.	593	Q9BWM5	ZN416_HUMAN	S	593	ENSP00000196489:I593S	ENSP00000196489:I593S	I	-	2	0	0	ZNF416	62775306	62775306	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.512000	0.35812	-0.348000	0.08286	-0.411000	0.06167	ATT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	1	0	1		2	2	2	0		0	0	177		177	173	1	2.060000	-20.000000	1	0.170000	NM_017879			135	133		693	684	1		1	0		0	0	177	0		1	3.844018e-01	0	0	0	8	0	135	693
ZIK1	284307	broad.mit.edu	37	19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(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)		GACATGGACAGAGCCTCATAT	0.493																																						ENST00000597850.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(451-453)aGa>aAa		zinc finger protein interacting with K protein 1							98.0	83.0	88.0					19																	58101631		2203	4300	6503	SO:0001583	missense	284307	0	0					g.chr19:58101631G>A	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.452G>A	chr19.hg19:g.58101631G>A	ENSP00000472867:p.Arg151Lys	0					ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR	p.R151K	NM_001010879.2	NP_001010879.2	1	2	3	2.033829	Q3SY52	ZIK1_HUMAN		4	667	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	1	1	hg19	c.452G>A	CCDS33135.1	1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453628	0.12283	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.84	-3.46	0.04767	2.84	-3.46	0.04767	.	.	.	.	.	T	0.03651	0.0104	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.48581	-0.9023	9	0.06891	T	0.86	.	7.6484	0.28334	0.6221:0.0:0.3779:0.0	.	138;151	F5H435;Q3SY52	.;ZIK1_HUMAN	K	138;132;151	ENSP00000438487:R138K	ENSP00000303820:R151K	R	+	2	0	0	ZIK1	62793443	62793443	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.568000	0.05909	-0.689000	0.05149	-0.391000	0.06502	AGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001010879			59	58		281	273	1		1	0		0	0	66	0		1	7.616052e-01	0	0	0	15	0	59	281
ZNF530	348327	broad.mit.edu	37	19	58117676	58117676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	261					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)|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)		GGAAAGCACACGGTAGAACAA	0.438																																						ENST00000332854.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(781-783)caC>caT		zinc finger protein 530							90.0	83.0	85.0					19																	58117676		2203	4300	6503	SO:0001819	synonymous_variant	348327	5	121412	36				g.chr19:58117676C>T	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.783C>T	chr19.hg19:g.58117676C>T		0					ZNF530_ENST00000597864.1_Intron	p.H261H	NM_020880.3	NP_065931.3	1	2	3	2.033829	Q6P9A1	ZN530_HUMAN		3	1003	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	O43340|Q9P220	Silent	SNP	ENST00000332854.6	1	1	hg19	c.783C>T	CCDS12955.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.299873	1	0.170000	NM_020880			81	81		336	331	1		1	0		0	0	63	0		1	3.867485e-02	0	0	0	2	0	81	336
ZNF134	7693	broad.mit.edu	37	19	58132057	58132057	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		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;0.0265)		GCAAAGACACACTTGTCCAGC	0.488																																						ENST00000396161.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(568-570)acA>acG		zinc finger protein 134							54.0	59.0	57.0					19																	58132057		2203	4299	6502	SO:0001819	synonymous_variant	7693	0	0					g.chr19:58132057A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.570A>G	chr19.hg19:g.58132057A>G		0						p.T190T	NM_003435.3	NP_003426.3	1	2	3	2.033829	P52741	ZN134_HUMAN		3	880	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	Q9Y4B2	Silent	SNP	ENST00000396161.5	1	1	hg19	c.570A>G	CCDS42638.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	0	0	1		15	3	2	1		1	1	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_003435			54	54		223	218	1		1	0		1	0	63	0		9.999999e-01	8.668174e-01	0	0	0	24	0	54	223
ZNF211	10520	broad.mit.edu	37	19	58152484	58152484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000347302.3	+	3	809	c.630G>A	c.(628-630)gaG>gaA	p.E210E	ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000544273.1_Silent_p.E222E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000299871.5_Silent_p.E275E	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473																																						ENST00000347302.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(628-630)gaG>gaA		zinc finger protein 211							53.0	53.0	53.0					19																	58152484		2203	4300	6503	SO:0001819	synonymous_variant	10520	0	0					g.chr19:58152484G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.630G>A	chr19.hg19:g.58152484G>A		0					ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000544273.1_Silent_p.E222E	p.E210E	NM_198855.2	NP_942152.1	1	2	3	2.033829	Q13398	ZN211_HUMAN		3	809	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	1	1	hg19	c.630G>A	CCDS12957.1	1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029395	0.19512	.	.	ENSG00000121417	ENST00000407202	T	0.19806	2.12	3.24	1.01	0.19927	3.24	1.01	0.19927	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.54805	T	0.06	.	5.2711	0.15624	0.1047:0.0:0.5413:0.354	.	.	.	.	K	214	ENSP00000384436:E214K	ENSP00000384436:E214K	E	+	1	0	0	ZNF211	62844296	62844296	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	0.297000	0.19101	0.371000	0.24564	0.591000	0.81541	GAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000				59	56		228	226	1		1	0		0	0	65	0		1	9.217579e-01	0	1	0	18	0	59	228
ZSCAN4	201516	broad.mit.edu	37	19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	251					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)			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)		GCTAGTCACTGCTAGATCTCA	0.493																																						ENST00000318203.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(751-753)Gct>Act		zinc finger and SCAN domain containing 4							88.0	81.0	84.0					19																	58189722		2203	4300	6503	SO:0001583	missense	201516	0	0					g.chr19:58189722G>A	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.751G>A	chr19.hg19:g.58189722G>A	ENSP00000321963:p.Ala251Thr	0						p.A251T	NM_152677.2	NP_689890.1	1	2	3	2.033829	Q8NAM6	ZSCA4_HUMAN		5	1448	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	1	1	hg19	c.751G>A	CCDS12958.1	1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188453	0.21954	.	.	ENSG00000180532	ENST00000318203	T	0.06849	3.25	3.81	-2.06	0.07298	3.81	-2.06	0.07298	.	2.348450	0.01409	N	0.013930	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.33803	-0.9854	10	0.21014	T	0.42	0.1009	4.7069	0.12855	0.0:0.3152:0.3616:0.3232	.	251	Q8NAM6	ZSCA4_HUMAN	T	251	ENSP00000321963:A251T	ENSP00000321963:A251T	A	+	1	0	0	ZSCAN4	62881534	62881534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.181000	0.03085	-0.538000	0.06281	-0.262000	0.10625	GCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.272292	1	0.170000	NM_152677			49	49		239	231	1		1			0	0	58	0		1	0	0	0	0	0	0	49	239
BSG	682	broad.mit.edu	37	19	582313	582313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000545507.2_Silent_p.D150D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	359	Poly-Asp.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CAGATGACGACGCCGGCTCTG	0.642																																						ENST00000333511.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1075-1077)gaC>gaT		basigin (Ok blood group)							27.0	32.0	31.0					19																	582313		2198	4294	6492	SO:0001819	synonymous_variant	682	10	120764	40				g.chr19:582313C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.1077C>T	chr19.hg19:g.582313C>T		0					BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000545507.2_Silent_p.D150D	p.D359D	NM_001728.3	NP_001719.2	1	2	3	2.010022	P35613	BASI_HUMAN		7	1147	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	1	1	hg19	c.1077C>T	CCDS12033.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_001728			89	89		315	309	0		1	1		0	0	68	0		1	1	0	831	0	1901	0	89	315
ZSCAN4	201516	broad.mit.edu	37	19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	393					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)			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)		CCACACAGGAGAAAAGCCTTA	0.453																																						ENST00000318203.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1177-1179)Gaa>Taa		zinc finger and SCAN domain containing 4							117.0	127.0	124.0					19																	58190148		2203	4300	6503	SO:0001587	stop_gained	201516	0	0					g.chr19:58190148G>T	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.1177G>T	chr19.hg19:g.58190148G>T	ENSP00000321963:p.Glu393*	0						p.E393*	NM_152677.2	NP_689890.1	1	2	3	2.033829	Q8NAM6	ZSCA4_HUMAN		5	1874	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	Q3MIQ2	Nonsense_Mutation	SNP	ENST00000318203.5	0	1	hg19	c.1177G>T	CCDS12958.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.753146	0.99461	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.441828	0.19597	N	0.110492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.1709	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000321963:E393X	E	+	1	0	0	ZSCAN4	62881960	62881960	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	3.907000	0.56348	2.699000	0.92147	0.650000	0.86243	GAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-3.346053	1	0.170000	NM_152677			141	140		652	645	1		1			0	0	155	0		1	0	0	0	0	0	0	141	652
ZNF671	79891	broad.mit.edu	37	19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TTCTCCAGAGTGAACTTTCTG	0.473																																						ENST00000317398.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1417-1419)cAc>cCc		zinc finger protein 671							122.0	114.0	117.0					19																	58232036		2203	4300	6503	SO:0001583	missense	79891	0	0					g.chr19:58232036T>G		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.1418A>C	chr19.hg19:g.58232036T>G	ENSP00000321848:p.His473Pro	0					ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	p.H473P	NM_024833.2	NP_079109.2	1	2	3	2.033829	Q8TAW3	ZN671_HUMAN		4	1513	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	1	1	hg19	c.1418A>C	CCDS12961.1	1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844404	0.51164	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.67698	-0.28;-0.28	1.73	1.73	0.24493	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.92880	3.355	0.37259	D	0.906888	D	0.76494	0.999	D	0.91635	0.999	D	0.84303	0.0506	9	0.87932	D	0	.	7.4287	0.27115	0.0:0.0:0.0:1.0	.	473	Q8TAW3	ZN671_HUMAN	P	473;375	ENSP00000321848:H473P;ENSP00000338670:H375P	ENSP00000321848:H473P	H	-	2	0	0	ZNF671	62923848	62923848	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	6.306000	0.72810	1.042000	0.40150	0.383000	0.25322	CAC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_024833			112	111		479	467	1		1	0		0	0	110	0		1	8.778260e-01	0	0	0	18	0	112	479
ZNF671	79891	broad.mit.edu	37	19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CCCACCCGCGCGGAGTCCGTT	0.682																																						ENST00000317398.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(133-135)Gcg>Acg		zinc finger protein 671							21.0	24.0	23.0					19																	58238764		2201	4298	6499	SO:0001583	missense	79891	0	0					g.chr19:58238764C>T		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.133G>A	chr19.hg19:g.58238764C>T	ENSP00000321848:p.Ala45Thr	0					ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	p.A45T	NM_024833.2	NP_079109.2	1	2	3	2.033829	Q8TAW3	ZN671_HUMAN		1	228	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	1	1	hg19	c.133G>A	CCDS12961.1	1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079148	0.07141	.	.	ENSG00000083814	ENST00000317398	T	0.00801	5.68	1.45	-1.0	0.10196	1.45	-1.0	0.10196	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.20196	N	0.999923	P	0.45396	0.857	B	0.21360	0.034	T	0.46105	-0.9215	9	0.22109	T	0.4	.	2.0183	0.03503	0.3123:0.4741:0.0:0.2136	.	45	Q8TAW3	ZN671_HUMAN	T	45	ENSP00000321848:A45T	ENSP00000321848:A45T	A	-	1	0	0	ZNF671	62930576	62930576	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.950000	0.29122	-0.217000	0.10033	-0.373000	0.07131	GCG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_024833			36	36		125	125	1		1	0		0	0	35	0		1	4.932084e-01	0	0	0	7	0	36	125
ZNF776	284309	broad.mit.edu	37	19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000317178.5	+	2	370	c.107G>A	c.(106-108)aGa>aAa	p.R36K	ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K|AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	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)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGGCTCAGAGATGCCTTTAT	0.473																																						ENST00000317178.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(106-108)aGa>aAa		zinc finger protein 776							286.0	220.0	242.0					19																	58262226		2203	4300	6503	SO:0001583	missense	284309	0	0					g.chr19:58262226G>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.107G>A	chr19.hg19:g.58262226G>A	ENSP00000321812:p.Arg36Lys	0					ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K|AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K	p.R36K	NM_173632.3	NP_775903.3	1	2	3	2.033829	Q68DI1	ZN776_HUMAN		2	370	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	1	1	hg19	c.107G>A	CCDS12962.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616021|2.616021	0.46631|0.46631	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000451849|ENST00000317178;ENST00000431353	.|T;T	.|0.01685	.|4.69;4.69	1.5|1.5	1.5|1.5	0.22942|0.22942	1.5|1.5	1.5|1.5	0.22942|0.22942	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.37561|0.37561	1.115|1.115	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.49263|0.49263	-0.8958|-0.8958	5|9	.|0.30854	.|T	.|0.27	.|.	6.4096|6.4096	0.21684|0.21684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|36;36	.|Q68DI1;B4DSC6	.|ZN776_HUMAN;.	N|K	19|36	.|ENSP00000321812:R36K;ENSP00000405772:R36K	.|ENSP00000321812:R36K	D|R	+|+	1|2	0|0	0|0	ZNF776|ZNF776	62954038|62954038	62954038|62954038	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.910000|0.910000	0.53928|0.53928	-0.429000|-0.429000	0.06982|0.06982	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	GAT|AGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_173632			73	71		377	367	1		1	0		0	0	102	0		1	6.493392e-01	0	0	0	13	0	73	377
ZNF586	54807	broad.mit.edu	37	19	58290546	58290546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396154.2	+	3	764	c.591G>A	c.(589-591)agG>agA	p.R197R	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G155E|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433																																						ENST00000396154.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(589-591)agG>agA		zinc finger protein 586							102.0	104.0	104.0					19																	58290546		2156	4290	6446	SO:0001819	synonymous_variant	54807	0	0					g.chr19:58290546G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.591G>A	chr19.hg19:g.58290546G>A		0					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000396150.4_Missense_Mutation_p.G155E|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron	p.R197R	NM_017652.3	NP_060122.2	1	2	3	2.033829	Q9NXT0	ZN586_HUMAN		3	764	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000396154.2	1	1	hg19	c.591G>A	CCDS42640.1	1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443595	0.12164	.	.	ENSG00000083828	ENST00000396150	T	0.04551	3.6	1.56	0.411	0.16392	1.56	0.411	0.16392	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	0.999998	P	0.43231	0.801	P	0.47786	0.557	T	0.35992	-0.9766	8	0.29301	T	0.29	.	2.7407	0.05252	0.3539:0.2537:0.3924:0.0	.	155	A0JLV8	.	E	155	ENSP00000379454:G155E	ENSP00000379454:G155E	G	+	2	0	0	ZNF586	62982358	62982358	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.656000	0.05342	-0.015000	0.14150	0.591000	0.81541	GGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	1	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_017652			93	94		452	447	1		1	0		0	0	126	0		1	6.770365e-01	0	0	0	13	0	93	452
FUT6	2528	broad.mit.edu	37	19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T	rs373329854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	96					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATACACCTTGCGGTCGGCAGT	0.627																																						ENST00000318336.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(286-288)cGc>cAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	67.0	69.0		287,287	3.1	0.4	19		69	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	96/360,96/360	5832292	3,13003	2203	4300	6503	SO:0001583	missense	2528	6	121412	38				g.chr19:5832292C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.287G>A	chr19.hg19:g.5832292C>T	ENSP00000313398:p.Arg96His	0					FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H	p.R96H	NM_000150.2	NP_000141.1	1	2	3	2.010022	P51993	FUT6_HUMAN		3	1481	-			A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	1	1	hg19	c.287G>A	CCDS12152.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333141	0.60853	0.0	3.49E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.09	3.09	0.35607	3.09	3.09	0.35607	.	0.103025	0.39083	N	0.001471	T	0.52741	0.1753	M	0.83483	2.645	0.30186	N	0.799964	P;P	0.48350	0.909;0.574	P;P	0.52758	0.708;0.513	T	0.60939	-0.7163	10	0.87932	D	0	.	12.3817	0.55311	0.0:1.0:0.0:0.0	.	96;96	C9J8A2;P51993	.;FUT6_HUMAN	H	96	ENSP00000431708:R96H;ENSP00000432954:R96H;ENSP00000313398:R96H;ENSP00000286955:R96H;ENSP00000436547:R96H	ENSP00000286955:R96H	R	-	2	0	0	FUT6	5783292	5783292	0.001000	0.12720	0.376000	0.26042	0.020000	0.10135	-0.043000	0.12043	1.666000	0.50821	0.436000	0.28706	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	0	0	1		18	6	2	1		1	1	80		80	79	1	2.060000	-4.427146	1	0.170000	NM_000150			100	98		330	327	1		1	1		1	0	80	0		1	9.999675e-01	0	34	0	54	0	100	330
ZNF552	79818	broad.mit.edu	37	19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		ACAACGCCTCCTCAACACTCC	0.483																																						ENST00000391701.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(454-456)gaG>gaT		zinc finger protein 552							137.0	134.0	135.0					19																	58320176		2203	4300	6503	SO:0001583	missense	79818	0	0					g.chr19:58320176C>A	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.456G>T	chr19.hg19:g.58320176C>A	ENSP00000375582:p.Glu152Asp	0					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.E152D	NM_024762.3	NP_079038.2	1	2	3	2.033829	Q9H707	ZN552_HUMAN		3	625	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	1	1	hg19	c.456G>T	CCDS12963.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042238	0.00402	.	.	ENSG00000178935	ENST00000391701	T	0.04654	3.58	1.4	-1.37	0.09056	1.4	-1.37	0.09056	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.28139	0.086;0.0	T	0.46925	-0.9156	9	0.06625	T	0.88	.	4.5962	0.12330	0.0:0.4734:0.3019:0.2246	.	148;152	B7Z1H1;Q9H707	.;ZN552_HUMAN	D	152	ENSP00000375582:E152D	ENSP00000375582:E152D	E	-	3	2	2	ZNF552	63011988	63011988	0.257000	0.24022	0.000000	0.03702	0.003000	0.03518	0.998000	0.29744	-0.283000	0.09115	0.205000	0.17691	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	1	0	1		2	2	2	0		0	0	107		107	112	1	2.060000	-2.969074	1	0.170000	NM_024762			101	96		530	515	1		1	1		0	0	107	0		1	9.909312e-01	0	8	0	32	0	101	530
ZNF256	10172	broad.mit.edu	37	19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	516					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCCTTTCTCCAGTGTGA	0.463																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(1546-1548)Gaa>Taa		zinc finger protein 256							82.0	77.0	79.0					19																	58452630		2203	4300	6503	SO:0001587	stop_gained	10172	0	0					g.chr19:58452630C>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1546G>T	chr19.hg19:g.58452630C>A	ENSP00000282308:p.Glu516*	0					ZNF256_ENST00000598928.1_3'UTR	p.E516*	NM_005773.2	NP_005764.2	1	2	3	2.033829	Q9Y2P7	ZN256_HUMAN		3	1742	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	0	1	hg19	c.1546G>T	CCDS12966.1	1	.	.	.	.	.	.	.	.	.	.	.	39	7.808358	0.98501	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.66	1.59	0.23543	2.66	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4272	0.32735	0.0:0.8724:0.0:0.1276	.	.	.	.	X	516	.	ENSP00000282308:E516X	E	-	1	0	0	ZNF256	63144442	63144442	0.000000	0.05858	0.006000	0.13384	0.969000	0.65631	0.933000	0.28897	0.434000	0.26340	0.467000	0.42956	GAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-19.999990	1	0.170000				57	56		350	340	1		1	0		0	0	77	0		1	3.714220e-01	0	0	0	9	0	57	350
C19orf18	147685	broad.mit.edu	37	19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	194						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		GAGTTTTGCTCTTCCTTCAGT	0.338																																						ENST00000314391.3	1.000000	0.770000	1	9.900000e-01	0.990000	0.982378	0.990000	1.000000																										0				8						c.(580-582)Gag>Tag		chromosome 19 open reading frame 18							65.0	61.0	63.0					19																	58470038		2202	4300	6502	SO:0001587	stop_gained	147685	0	0					g.chr19:58470038C>A	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.580G>T	chr19.hg19:g.58470038C>A	ENSP00000321519:p.Glu194*	0						p.E194*	NM_152474.4	NP_689687.1	1	2	3	2.033829	Q8NEA5	CS018_HUMAN		6	681	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		Nonsense_Mutation	SNP	ENST00000314391.3	0	1	hg19	c.580G>T	CCDS12967.1	1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433390	0.25813	.	.	ENSG00000177025	ENST00000314391	.	.	.	3.14	-1.56	0.08532	3.14	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.36516	D	0.869866	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-40.216	3.3469	0.07139	0.0:0.4199:0.2063:0.3738	.	.	.	.	X	194	.	ENSP00000321519:E194X	E	-	1	0	0	C19orf18	63161850	63161850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.002000	0.13061	-0.193000	0.10415	-0.350000	0.07774	GAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.997880	1	0.170000	NM_152474			15	15		125	122	1		1	0		0	0	28	0		9.998848e-01	0	0	0	0	1	0	15	125
C19orf18	147685	broad.mit.edu	37	19	58477896	58477896	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		GCAGATACTTACTATATCATA	0.338																																						ENST00000314391.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999785	0.990000	1.000000																										0				8						c.e4+1		chromosome 19 open reading frame 18							59.0	60.0	60.0					19																	58477896		2203	4300	6503	SO:0001630	splice_region_variant	147685	0	0					g.chr19:58477896A>G	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.371+1T>C	chr19.hg19:g.58477896A>G		0							NM_152474.4	NP_689687.1	1	2	3	2.033829	Q8NEA5	CS018_HUMAN		4	473	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		Splice_Site	SNP	ENST00000314391.3	1	1	hg19		CCDS12967.1	1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851034	0.51270	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.1	4.1	0.47936	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8207	0.40880	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	C19orf18	63169708	63169708	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.327000	0.52045	2.078000	0.62432	0.524000	0.50904	.	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-13.118580	1	0.170000	NM_152474	Intron		21	21		113	109	1		1			0	0	32	0		9.999982e-01	0	0	0	0	0	0	21	113
ZNF606	80095	broad.mit.edu	37	19	58490209	58490209	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	613					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)			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)		TTATCTCATGTTTAGTGAGGG	0.423																																						ENST00000341164.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1837-1839)aaA>aaG		zinc finger protein 606							90.0	90.0	90.0					19																	58490209		2203	4300	6503	SO:0001819	synonymous_variant	80095	0	0					g.chr19:58490209T>C	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.1839A>G	chr19.hg19:g.58490209T>C		0					ZNF606_ENST00000536132.1_Silent_p.K523K	p.K613K	NM_025027.3	NP_079303.2	1	2	3	2.033829	Q8WXB4	ZN606_HUMAN		7	2459	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	1	1	hg19	c.1839A>G	CCDS12968.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_025027			101	100		427	422	1		1	0		0	0	95	0		1	7.419583e-01	0	0	0	13	0	101	427
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000341164.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.S563Y(2)	large_intestine(2)	26						c.(1687-1689)tCt>tAt		zinc finger protein 606							66.0	66.0	66.0					19																	58490360		2203	4300	6503	SO:0001583	missense	80095	0	0					g.chr19:58490360G>T	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	chr19.hg19:g.58490360G>T	ENSP00000343617:p.Ser563Tyr	0					ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	p.S563Y	NM_025027.3	NP_079303.2	1	2	3	2.033829	Q8WXB4	ZN606_HUMAN		7	2308	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	1	1	hg19	c.1688C>A	CCDS12968.1	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	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	0	ZNF606	63182172	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	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_025027			92	91		280	277	1		1	0		0	0	68	0		1	7.492336e-01	0	0	0	10	0	92	280
ZNF606	80095	broad.mit.edu	37	19	58490962	58490962	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	362					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)			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)		CAATTTTTTGATGTTCCATAA	0.343																																						ENST00000341164.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1084-1086)caT>caC		zinc finger protein 606							105.0	93.0	97.0					19																	58490962		2203	4300	6503	SO:0001819	synonymous_variant	80095	0	0					g.chr19:58490962A>G	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.1086T>C	chr19.hg19:g.58490962A>G		0					ZNF606_ENST00000536132.1_Silent_p.H272H	p.H362H	NM_025027.3	NP_079303.2	1	2	3	2.033829	Q8WXB4	ZN606_HUMAN		7	1706	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	1	1	hg19	c.1086T>C	CCDS12968.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_025027			111	109		399	388	1		1	0		0	0	91	0		1	6.151459e-01	0	1	0	8	0	111	399
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000536132.1_5'UTR|ZNF606_ENST00000552579.1_5'Flank	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)		GGTACAGGGTCCTCTGAACAA	0.537																																						ENST00000341164.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(250-252)agG>agA		zinc finger protein 606							213.0	190.0	198.0					19																	58500015		2203	4300	6503	SO:0001819	synonymous_variant	80095	0	0					g.chr19:58500015C>T	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.252G>A	chr19.hg19:g.58500015C>T		0					ZNF606_ENST00000536132.1_5'UTR|ZNF606_ENST00000552579.1_5'Flank	p.R84R	NM_025027.3	NP_079303.2	1	2	3	2.033829	Q8WXB4	ZN606_HUMAN		5	872	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	1	1	hg19	c.252G>A	CCDS12968.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1		2	2	2	0		0	0	281		281	278	1	2.060000	-20.000000	1	0.170000	NM_025027			200	197		929	912	0		1	0		0	0	281	0		1	3.603083e-01	0	0	0	7	0	200	929
ZSCAN1	284312	broad.mit.edu	37	19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	137					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)			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)		CCAGGACTGGAGTTTCGGTGA	0.617																																						ENST00000282326.1	1.000000	0.670000	1	7.600000e-01	0.870000	0.877536	0.870000	1.000000																										0				48						c.(409-411)Agt>Ggt		zinc finger and SCAN domain containing 1							114.0	123.0	120.0					19																	58551856		2203	4300	6503	SO:0001583	missense	284312	0	0					g.chr19:58551856A>G	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.409A>G	chr19.hg19:g.58551856A>G	ENSP00000282326:p.Ser137Gly	0						p.S137G	NM_182572.3	NP_872378.3	1	2	3	2.033829	Q8NBB4	ZSCA1_HUMAN		4	656	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	1	1	hg19	c.409A>G	CCDS12969.1	1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605295	0.03717	.	.	ENSG00000152467	ENST00000282326	T	0.04360	3.64	1.09	-0.0961	0.13638	1.09	-0.0961	0.13638	Transcription regulator SCAN (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44483	-0.9325	9	0.39692	T	0.17	.	3.2733	0.06889	0.7278:0.0:0.2722:0.0	.	137	Q8NBB4	ZSCA1_HUMAN	G	137	ENSP00000282326:S137G	ENSP00000282326:S137G	S	+	1	0	0	ZSCAN1	63243668	63243668	0.005000	0.15991	0.061000	0.19648	0.948000	0.59901	0.294000	0.19047	-0.098000	0.12285	0.260000	0.18958	AGT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-20.000000	1	0.170000	NM_182572			70	70		905	887	0		1			0	0	178	0		1	0	0	0	0	0	0	70	905
ZSCAN1	284312	broad.mit.edu	37	19	58565026	58565026	+	Silent	SNP	C	C	T	rs542464502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	278					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)			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)		CTGTTGCAGGCATCTCGGTAG	0.622																																						ENST00000282326.1	1.000000	0.680000	1	8.200000e-01	0.990000	0.931333	0.990000	1.000000																										0				48						c.(832-834)ggC>ggT		zinc finger and SCAN domain containing 1							69.0	70.0	69.0					19																	58565026		2203	4300	6503	SO:0001819	synonymous_variant	284312	0	0					g.chr19:58565026C>T	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.834C>T	chr19.hg19:g.58565026C>T		0						p.G278G	NM_182572.3	NP_872378.3	1	2	3	2.033829	Q8NBB4	ZSCA1_HUMAN		6	1081	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	1	1	hg19	c.834C>T	CCDS12969.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_182572			32	32		366	359	0		1			0	0	60	0		1	0	0	0	0	0	0	32	366
ZNF135	7694	broad.mit.edu	37	19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000313434.5	+	5	1137	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R304*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	346					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCATCTGCGAATCCACAC	0.572																																						ENST00000313434.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1036-1038)Cga>Tga		zinc finger protein 135		C	,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	44.0	46.0		,1072,1072,1108	-0.7	0.7	19	dbSNP_134	46	0,8600		0,0,4300	no	utr-3,stop-gained,stop-gained,stop-gained	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,358/391,358/671,370/683	58578888	1,13005	2203	4300	6503	SO:0001587	stop_gained	7694	6	121412	37				g.chr19:58578888C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1036C>T	chr19.hg19:g.58578888C>T	ENSP00000321406:p.Arg346*	0					ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R304*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*	p.R346*	NM_003436.3	NP_003427.3	1	2	3	2.033829	P52742	ZN135_HUMAN		5	1137	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	0	1	hg19	c.1036C>T		1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968279	0.34754	2.27E-4	0.0	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.19	-0.696	0.11287	3.19	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2145	0.01911	0.4005:0.3059:0.1603:0.1332	.	.	.	.	X	358;370;358;346;346;358;304	.	ENSP00000321406:R346X	R	+	1	2	2	ZNF135	63270700	63270700	0.000000	0.05858	0.659000	0.29680	0.005000	0.04900	-0.827000	0.04424	0.167000	0.19631	-0.302000	0.09304	CGA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_003436			45	44		215	208	1		1	0		0	0	61	0		1	2.146954e-01	0	0	0	5	0	45	215
ZNF135	7694	broad.mit.edu	37	19	58579679	58579679	+	Silent	SNP	C	C	T	rs147006683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579679C>T	ENST00000313434.5	+	5	1928	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	ZNF135_ENST00000511556.1_Silent_p.H621H|ZNF135_ENST00000506786.1_Silent_p.H567H|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Silent_p.H633H|ZNF135_ENST00000439855.2_Silent_p.H609H	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	609					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGAGTGTCACGATTGCGGAA	0.562																																						ENST00000313434.5	1.000000	0.280000	6.900000e-01	3.700000e-01	0.480000	0.543564	0.480000	0.450000																										0				41						c.(1825-1827)caC>caT		zinc finger protein 135							95.0	88.0	90.0					19																	58579679		2203	4300	6503	SO:0001819	synonymous_variant	7694	435	121412	59				g.chr19:58579679C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1827C>T	chr19.hg19:g.58579679C>T		0					ZNF135_ENST00000401053.4_Silent_p.H633H|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Silent_p.H609H|ZNF135_ENST00000506786.1_Silent_p.H567H|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.H621H	p.H609H	NM_003436.3	NP_003427.3	1	2	3	2.033829	P52742	ZN135_HUMAN		5	1928	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	1	0	hg19	c.1827C>T		0	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.988039	0.00443	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.37	-1.32	0.09201	3.37	-1.32	0.09201	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	0.5468	0.00655	0.3476:0.1854:0.2947:0.1723	.	.	.	.	M	627	.	.	T	+	2	0	0	ZNF135	63271491	63271491	0.000000	0.05858	0.035000	0.18076	0.006000	0.05464	-3.165000	0.00576	-0.025000	0.13918	-1.120000	0.02017	ACG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	0		2	2	2	0		0	0	102		102	103	1	2.060000	-4.046563	1	0.170000	NM_003436			18	17		454	441	0		1	0		0	0	102	0		9.999773e-01	3.057783e-02	0	0	0	7	0	18	454
ZNF135	7694	broad.mit.edu	37	19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000313434.5	+	5	2015	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000506786.1_Missense_Mutation_p.D596E|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	638					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATGCAGGGACTGTGGAAAGG	0.537																																						ENST00000313434.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1912-1914)gaC>gaA		zinc finger protein 135							94.0	83.0	87.0					19																	58579766		2203	4300	6503	SO:0001583	missense	7694	0	0					g.chr19:58579766C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1914C>A	chr19.hg19:g.58579766C>A	ENSP00000321406:p.Asp638Glu	0					ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000506786.1_Missense_Mutation_p.D596E|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E	p.D638E	NM_003436.3	NP_003427.3	1	2	3	2.033829	P52742	ZN135_HUMAN		5	2015	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	1	1	hg19	c.1914C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.152853|-3.152853	0.00028|0.00028	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000504540;ENST00000391699	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	3.37|3.37	-0.525|-0.525	0.11917|0.11917	3.37|3.37	-0.525|-0.525	0.11917|0.11917	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.02674|0.02674	-0.535|-0.535	0.09310|0.09310	N|N	1|1	B;B|.	0.18610|.	0.0;0.029|.	B;B|.	0.21917|.	0.002;0.037|.	T|T	0.31530|0.31530	-0.9940|-0.9940	9|5	0.02654|.	T|.	1|.	.|.	7.2472|7.2472	0.26129|0.26129	0.5826:0.2715:0.1459:0.0|0.5826:0.2715:0.1459:0.0	.|.	650;638|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	E|N	662;638;638;650;596|370;656	ENSP00000441410:D662E;ENSP00000444828:D638E;ENSP00000321406:D638E;ENSP00000422074:D650E;ENSP00000427691:D596E|.	ENSP00000321406:D638E|.	D|T	+|+	3|2	2|0	2|0	ZNF135|ZNF135	63271578|63271578	63271578|63271578	0.000000|0.000000	0.05858|0.05858	0.797000|0.797000	0.32132|0.32132	0.014000|0.014000	0.08584|0.08584	-1.110000|-1.110000	0.03306|0.03306	0.237000|0.237000	0.21200|0.21200	-1.399000|-1.399000	0.01144|0.01144	GAC|ACT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	0		2	2	2	0		0	0	86		86	84	1	2.060000	-20.000000	1	0.170000	NM_003436			82	79		322	314	1		1	0		0	0	86	0		1	5.747724e-01	0	0	0	9	0	82	322
ZSCAN18	65982	broad.mit.edu	37	19	58596628	58596628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000421612.2_Silent_p.S183S|ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000600404.1_Silent_p.S375S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	319					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGGTGCCCGACGGGGGAT	0.741																																						ENST00000240727.6	1.000000	0.670000	1	8.800000e-01	0.990000	0.957316	0.990000	1.000000																										0				19						c.(955-957)tcG>tcA		zinc finger and SCAN domain containing 18							9.0	12.0	11.0					19																	58596628		2099	4138	6237	SO:0001819	synonymous_variant	65982	0	0					g.chr19:58596628C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.957G>A	chr19.hg19:g.58596628C>T		0					ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000421612.2_Silent_p.S183S	p.S319S	NM_023926.4	NP_076415.3	1	2	3	2.033829	Q8TBC5	ZSC18_HUMAN		7	1356	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	1	1	hg19	c.957G>A	CCDS12971.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-19.997440	1	0.170000	NM_023926			16	16		158	156	0		1	0		0	0	38	0		9.999419e-01	1.793692e-01	0	0	0	8	0	16	158
ZNF329	79673	broad.mit.edu	37	19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TGTCGAACAAGGGATGAGCTC	0.512																																						ENST00000598312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1576-1578)Ctt>Att		zinc finger protein 329							189.0	165.0	173.0					19																	58639295		2203	4300	6503	SO:0001583	missense	79673	0	0					g.chr19:58639295G>T	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.1576C>A	chr19.hg19:g.58639295G>T	ENSP00000470008:p.Leu526Ile	0					ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	p.L526I	NM_024620.3	NP_078896.3	1	2	3	2.033829	Q86UD4	ZN329_HUMAN		4	1809	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	1	1	hg19	c.1576C>A	CCDS12972.1	1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479140	0.44044	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.74947	-0.89;-0.89	4.34	4.34	0.51931	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34828	N	0.003647	D	0.86855	0.6033	M	0.90650	3.135	0.21984	N	0.999434	D	0.76494	0.999	D	0.81914	0.995	T	0.78846	-0.2043	10	0.87932	D	0	-12.963	10.724	0.46057	0.0923:0.0:0.9077:0.0	.	526	Q86UD4	ZN329_HUMAN	I	526	ENSP00000350773:L526I;ENSP00000439527:L526I	ENSP00000350773:L526I	L	-	1	0	0	ZNF329	63331107	63331107	1.000000	0.71417	0.886000	0.34754	0.354000	0.29330	4.611000	0.61162	2.717000	0.92951	0.655000	0.94253	CTT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1		2	2	2	0		0	0	144		144	141	1	2.060000	-2.629565	1	0.170000	NM_024620			106	103		525	509	1		1	0		0	0	144	0		1	9.531195e-01	0	1	0	26	0	106	525
ZNF329	79673	broad.mit.edu	37	19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	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)			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)		TCTATATGGTTTTTCCCCTGT	0.438																																						ENST00000598312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(937-939)aAa>aCa		zinc finger protein 329							135.0	133.0	134.0					19																	58639933		2203	4300	6503	SO:0001583	missense	79673	0	0					g.chr19:58639933T>G	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.938A>C	chr19.hg19:g.58639933T>G	ENSP00000470008:p.Lys313Thr	0					ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	p.K313T	NM_024620.3	NP_078896.3	1	2	3	2.033829	Q86UD4	ZN329_HUMAN		4	1171	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	1	1	hg19	c.938A>C	CCDS12972.1	1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654379	0.47467	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.01	4.01	0.46588	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.42108	0.1188	M	0.76170	2.325	0.46927	D	0.999254	D	0.59357	0.985	P	0.59171	0.853	T	0.39014	-0.9634	10	0.87932	D	0	-22.8886	7.6583	0.28388	0.0:0.0986:0.0:0.9014	.	313	Q86UD4	ZN329_HUMAN	T	313	ENSP00000350773:K313T;ENSP00000439527:K313T	ENSP00000350773:K313T	K	-	2	0	0	ZNF329	63331745	63331745	0.294000	0.24380	0.999000	0.59377	0.886000	0.51366	0.900000	0.28431	2.055000	0.61198	0.533000	0.62120	AAA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_024620			128	124		467	461	1		1	1		0	0	124	0		1	8.635490e-01	0	3	0	12	0	128	467
FUT5	2527	broad.mit.edu	37	19	5867405	5867405	+	Missense_Mutation	SNP	C	C	T	rs145858323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5867405C>T	ENST00000588525.1	-	2	419	c.332G>A	c.(331-333)aGt>aAt	p.S111N	FUT5_ENST00000252675.5_Missense_Mutation_p.S111N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGGTACACACTGGAGTCGGC	0.652																																						ENST00000588525.1	1.000000	0.090000	3.100000e-01	1.300000e-01	0.200000	0.271953	0.200000	0.190000																										0				12						c.(331-333)aGt>aAt		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							68.0	63.0	65.0					19																	5867405		2203	4300	6503	SO:0001583	missense	2527	4	121410	39				g.chr19:5867405C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.332G>A	chr19.hg19:g.5867405C>T	ENSP00000466880:p.Ser111Asn	0					FUT5_ENST00000252675.5_Missense_Mutation_p.S111N	p.S111N	NM_002034.2	NP_002025.2	1	2	3	2.010022	Q11128	FUT5_HUMAN		2	419	-			A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	0	1	hg19	c.332G>A	CCDS12154.1	0	.	.	.	.	.	.	.	.	.	.	T	3.579	-0.086057	0.07097	.	.	ENSG00000130383	ENST00000252675	T	0.26518	1.73	2.09	-0.735	0.11137	2.09	-0.735	0.11137	.	0.484276	0.19789	N	0.106037	T	0.15609	0.0376	L	0.39326	1.205	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.15378	-1.0439	10	0.33141	T	0.24	.	3.5461	0.07829	0.1954:0.5024:0.0:0.3022	.	111	Q11128	FUT5_HUMAN	N	111	ENSP00000252675:S111N	ENSP00000252675:S111N	S	-	2	0	0	FUT5	5818405	5818405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.159000	0.11021	-1.570000	0.00873	AGT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	0	0	0		2	2	2	0		0	0	72		72	70	1	2.060000	-6.812696	1	0.170000	NM_002034			8	8		499	487	0		1	0		0	0	72	0		9.883941e-01	0	0	0	0	1	0	8	499
ZNF329	79673	broad.mit.edu	37	19	58640736	58640736	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)		GCCTCAAGTGTCCCTCCTGGT	0.473																																						ENST00000598312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(133-135)ggA>ggG		zinc finger protein 329							161.0	149.0	153.0					19																	58640736		2203	4300	6503	SO:0001819	synonymous_variant	79673	0	0					g.chr19:58640736T>C	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.135A>G	chr19.hg19:g.58640736T>C		0					ZNF329_ENST00000358067.4_Silent_p.G45G	p.G45G	NM_024620.3	NP_078896.3	1	2	3	2.033829	Q86UD4	ZN329_HUMAN		4	368	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	1	1	hg19	c.135A>G	CCDS12972.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000	NM_024620			113	111		575	566	1		1	0		0	0	118	0		1	8.800306e-01	0	1	0	20	0	113	575
ZNF274	10782	broad.mit.edu	37	19	58718468	58718468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000326804.4	+	6	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_ENST00000345813.3_Silent_p.L180L|ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	213	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.			A -> T (in Ref. 2; AAG24390). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TAGGTGCACTGCCTGTGAAGC	0.602																																						ENST00000326804.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999224	0.990000	1.000000																										0				21						c.(634-636)ctG>ctA		zinc finger protein 274							30.0	32.0	31.0					19																	58718468		2203	4300	6503	SO:0001819	synonymous_variant	10782	0	0					g.chr19:58718468G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.636G>A	chr19.hg19:g.58718468G>A		0					ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L180L	p.L212L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	1	2	3	2.033829	Q96GC6	ZN274_HUMAN		6	1095	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	1	1	hg19	c.636G>A		1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_133502			17	17		95	93	1		1	1		0	0	30	0		9.999750e-01	9.958836e-01	0	7	0	47	0	17	95
ZNF274	10782	broad.mit.edu	37	19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000326804.4	+	9	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAAAAAGACCTTCCTCAGAA	0.488																																						ENST00000326804.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1177-1179)Ctt>Att		zinc finger protein 274							82.0	82.0	82.0					19																	58723727		2031	4189	6220	SO:0001583	missense	10782	0	0					g.chr19:58723727C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1177C>A	chr19.hg19:g.58723727C>A	ENSP00000321209:p.Leu393Ile	0					ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000597818.1_3'UTR	p.L393I	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	1	2	3	2.033829	Q96GC6	ZN274_HUMAN		9	1636	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	1	1	hg19	c.1177C>A		1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160475	0.38119	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07327	3.34;3.21;3.2	4.71	2.5	0.30297	4.71	2.5	0.30297	.	0.803124	0.10301	N	0.691197	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.20780	0.021;0.048;0.028	B;B;B	0.18561	0.013;0.022;0.01	T	0.43475	-0.9389	9	0.24483	T	0.36	-2.4602	7.8969	0.29712	0.1834:0.6397:0.1769:0.0	.	289;362;394	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	I	393;361;288	ENSP00000321209:L393I;ENSP00000321187:L361I;ENSP00000409872:L288I	ENSP00000321209:L393I	L	+	1	0	0	ZNF274	63415539	63415539	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.499000	0.22546	0.675000	0.31264	0.561000	0.74099	CTT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_133502			48	47		200	200	1		1	1		0	0	65	0		1	9.999058e-01	0	15	0	46	0	48	200
ZNF544	27300	broad.mit.edu	37	19	58757770	58757770	+	Missense_Mutation	SNP	C	C	A	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	ENST00000596652.1	+	4	371	c.137C>A	c.(136-138)aCc>aAc	p.T46N	ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000599953.1_De_novo_Start_OutOfFrame|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N			Q6NX49	ZN544_HUMAN	zinc finger protein 544	46	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)			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)		ACACTGGAGACCTGGGAGCAT	0.552																																						ENST00000596652.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(136-138)aCc>aAc		zinc finger protein 544							130.0	117.0	121.0					19																	58757770		2203	4300	6503	SO:0001583	missense	27300	0	0					g.chr19:58757770C>A	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.137C>A	chr19.hg19:g.58757770C>A	ENSP00000469635:p.Thr46Asn	0					ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000599953.1_De_novo_Start_OutOfFrame|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N	p.T46N			1	2	3	2.033829	Q6NX49	ZN544_HUMAN		4	371	+		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)	A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	1	0	hg19	c.137C>A	CCDS12973.1	1	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805240	0.02819	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	T;T;T	0.01068	5.38;5.38;5.38	2.36	-1.81	0.07882	2.36	-1.81	0.07882	Krueppel-associated box (4);	.	.	.	.	T	0.00552	0.0018	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.18561	0.022;0.022;0.022	T	0.46289	-0.9202	9	0.02654	T	1	.	4.3261	0.11041	0.3749:0.493:0.0:0.1321	.	46;46;46	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	N	46	ENSP00000269829:T46N;ENSP00000329320:T46N;ENSP00000394341:T46N	ENSP00000269829:T46N	T	+	2	0	0	ZNF544	63449582	63449582	0.206000	0.23470	0.004000	0.12327	0.001000	0.01503	0.209000	0.17435	-0.038000	0.13624	-0.492000	0.04666	ACC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1		17	2	2	0		0	1	108		108	106	1	2.060000	-3.931836	1	0.170000	NM_014480			90	84		460	443	1		1	0		0	0	108	0		1	8.605272e-01	0	0	0	20	0	90	460
ZNF544	27300	broad.mit.edu	37	19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000596652.1	+	6	1336	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CTGTTGTAAGCTCATACACCA	0.438																																						ENST00000596652.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1102-1104)Ctc>Atc		zinc finger protein 544							85.0	81.0	82.0					19																	58773074		2203	4300	6503	SO:0001583	missense	27300	0	0					g.chr19:58773074C>A	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.1102C>A	chr19.hg19:g.58773074C>A	ENSP00000469635:p.Leu368Ile	0					ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron	p.L368I			1	2	3	2.033829	Q6NX49	ZN544_HUMAN		6	1336	+		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)	A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	1	1	hg19	c.1102C>A	CCDS12973.1	1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364951	0.01235	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15139	2.45;2.45	2.54	1.4	0.22301	2.54	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.03253	-0.375	0.19300	N	0.999974	B;B;B	0.30542	0.215;0.017;0.284	B;B;B	0.22880	0.042;0.005;0.018	T	0.40098	-0.9581	9	0.10377	T	0.69	.	5.7326	0.18049	0.0:0.8304:0.0:0.1696	.	340;340;368	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	I	368;340;32	ENSP00000269829:L368I;ENSP00000394341:L340I	ENSP00000269829:L368I	L	+	1	0	0	ZNF544	63464886	63464886	0.000000	0.05858	0.012000	0.15200	0.191000	0.23601	-0.664000	0.05292	0.355000	0.24131	0.491000	0.48974	CTC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-20.000000	1	0.170000	NM_014480			57	57		294	292	1		1	0		0	0	82	0		1	4.479295e-01	0	1	0	8	0	57	294
ZNF544	27300	broad.mit.edu	37	19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000596652.1	+	6	1771	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		ACATCAGAGGACACACACTGG	0.438																																						ENST00000596652.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1537-1539)Aca>Gca		zinc finger protein 544							79.0	81.0	80.0					19																	58773509		2203	4300	6503	SO:0001583	missense	27300	0	0					g.chr19:58773509A>G	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.1537A>G	chr19.hg19:g.58773509A>G	ENSP00000469635:p.Thr513Ala	0					ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron	p.T513A			1	2	3	2.033829	Q6NX49	ZN544_HUMAN		6	1771	+		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)	A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	1	1	hg19	c.1537A>G	CCDS12973.1	1	.	.	.	.	.	.	.	.	.	.	A	9.323	1.058531	0.19987	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.11930	2.73;2.73	2.8	1.74	0.24563	2.8	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.42744	1.35	0.09310	N	1	B;B;B	0.25772	0.077;0.134;0.033	B;B;B	0.25140	0.03;0.058;0.015	T	0.32428	-0.9907	9	0.72032	D	0.01	.	3.3834	0.07262	0.6747:0.0:0.1213:0.2041	.	485;485;513	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	513;485	ENSP00000269829:T513A;ENSP00000394341:T485A	ENSP00000269829:T513A	T	+	1	0	0	ZNF544	63465321	63465321	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.558000	0.23469	0.295000	0.22570	0.421000	0.28195	ACA	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1		2	2	2	0		0	0	89		89	85	1	2.060000	-20.000000	1	0.170000	NM_014480			81	79		326	315	1		1	0		0	0	89	0		1	6.227402e-01	0	0	0	10	0	81	326
ZSCAN22	342945	broad.mit.edu	37	19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	400					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TCAACACCAGCGCATCCACAC	0.632																																						ENST00000329665.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				16						c.(1198-1200)Cgc>Tgc		zinc finger and SCAN domain containing 22							79.0	73.0	75.0					19																	58850414		2203	4300	6503	SO:0001583	missense	342945	1	121412	32				g.chr19:58850414C>T	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.1198C>T	chr19.hg19:g.58850414C>T	ENSP00000332433:p.Arg400Cys	0						p.R400C	NM_181846.2	NP_862829.1	1	2	3	2.033829	P10073	ZSC22_HUMAN		3	1345	+		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)	Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	1	1	hg19	c.1198C>T	CCDS12975.1	1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087477	0.36855	.	.	ENSG00000182318	ENST00000329665	T	0.25749	1.78	4.06	-2.92	0.05615	4.06	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.89904	3.07	0.41325	D	0.987202	D	0.89917	1.0	D	0.73380	0.98	T	0.54984	-0.8211	9	0.87932	D	0	.	3.2415	0.06782	0.5382:0.2312:0.1359:0.0948	.	400	P10073	ZSC22_HUMAN	C	400	ENSP00000332433:R400C	ENSP00000332433:R400C	R	+	1	0	0	ZSCAN22	63542226	63542226	0.000000	0.05858	0.563000	0.28383	0.018000	0.09664	-4.341000	0.00250	-0.151000	0.11176	-0.311000	0.09066	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.318850	1	0.170000	NM_181846			61	60		395	384	1		1	0		0	0	97	0		1	2.956749e-01	0	1	0	7	0	61	395
A1BG	1	broad.mit.edu	37	19	58864689	58864689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	13						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677																																						ENST00000263100.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(37-39)gtC>gtT		alpha-1-B glycoprotein							31.0	33.0	32.0					19																	58864689		2198	4297	6495	SO:0001819	synonymous_variant	1	0	0					g.chr19:58864689G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.39C>T	chr19.hg19:g.58864689G>A		0					CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V13V	NM_130786.3	NP_570602.2	1	2	3	2.033829	P04217	A1BG_HUMAN		2	100	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	1	1	hg19	c.39C>T	CCDS12976.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_130786			25	25		84	83	0		1			0	0	20	0		9.999999e-01	0	0	0	0	0	0	25	84
A1BG	1	broad.mit.edu	37	19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	6						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667																																						ENST00000263100.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.992392	0.990000	1.000000																										0				15						c.(16-18)Gtc>Atc		alpha-1-B glycoprotein							50.0	53.0	52.0					19																	58864788		2202	4300	6502	SO:0001583	missense	1	0	0					g.chr19:58864788C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.16G>A	chr19.hg19:g.58864788C>T	ENSP00000263100:p.Val6Ile	0					CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V6I	NM_130786.3	NP_570602.2	1	2	3	2.033829	P04217	A1BG_HUMAN		1	77	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	0	1	hg19	c.16G>A	CCDS12976.1	1	.	.	.	.	.	.	.	.	.	.	C	4.265	0.048324	0.08243	.	.	ENSG00000121410	ENST00000263100	T	0.00534	6.74	3.25	-0.496	0.12027	3.25	-0.496	0.12027	.	2.038350	0.02702	N	0.111919	T	0.00412	0.0013	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.44159	-0.9346	10	0.22706	T	0.39	.	8.6177	0.33842	0.6089:0.3911:0.0:0.0	.	6	P04217	A1BG_HUMAN	I	6	ENSP00000263100:V6I	ENSP00000263100:V6I	V	-	1	0	0	A1BG	63556600	63556600	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.180000	0.16860	0.002000	0.14630	-0.309000	0.09137	GTC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-19.658490	1	0.170000	NM_130786			12	11		81	80	1		1	0		0	0	17	0		9.992349e-01	6.094915e-01	0	0	0	15	0	12	81
ZNF497	162968	broad.mit.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		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;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682																																						ENST00000311044.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997158	0.990000	1.000000																										0				7						c.(1357-1359)Cgc>Tgc		zinc finger protein 497							12.0	14.0	14.0					19																	58867645		2197	4297	6494	SO:0001583	missense	162968	0	0					g.chr19:58867645G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	chr19.hg19:g.58867645G>A	ENSP00000311183:p.Arg453Cys	0					CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.R453C	NM_198458.2	NP_940860.2	1	2	3	2.033829	Q6ZNH5	ZN497_HUMAN		3	1545	-		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)	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	0	1	hg19	c.1357C>T	CCDS12977.1	1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	0	ZNF497	63559457	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-19.737100	1	0.170000	NM_198458			11	11		59	59	1		1	1		0	0	10	0		9.987928e-01	7.781069e-02	0	2	0	1	0	11	59
ZNF497	162968	broad.mit.edu	37	19	58868179	58868179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	ENST00000311044.3	-	3	1011	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	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)			central_nervous_system(2)|lung(3)|skin(2)	7		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;0.0278)		TCGGGACAGGCGTGTGGCCGT	0.736																																						ENST00000311044.3	1.000000	0.350000	1	6.200000e-01	0.990000	0.860432	0.990000	1.000000																										0				7						c.(823-825)Gcc>Acc		zinc finger protein 497							7.0	8.0	8.0					19																	58868179		2165	4245	6410	SO:0001583	missense	162968	1	118838	17				g.chr19:58868179C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.823G>A	chr19.hg19:g.58868179C>T	ENSP00000311183:p.Ala275Thr	0					CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.A275T	NM_198458.2	NP_940860.2	1	2	3	2.033829	Q6ZNH5	ZN497_HUMAN		3	1011	-		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)	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	0	1	hg19	c.823G>A	CCDS12977.1	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753174	0.31046	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.16073	2.37;2.37	1.23	-0.0606	0.13788	1.23	-0.0606	0.13788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.03084	-0.415	0.09310	N	1	P	0.36222	0.544	B	0.23574	0.047	T	0.28522	-1.0041	9	0.54805	T	0.06	.	2.3078	0.04178	0.0:0.328:0.3019:0.3701	.	275	Q6ZNH5	ZN497_HUMAN	T	275	ENSP00000311183:A275T;ENSP00000402815:A275T	ENSP00000311183:A275T	A	-	1	0	0	ZNF497	63559991	63559991	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-2.470000	0.00991	0.026000	0.15269	0.205000	0.17691	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	0	0	0		2	2	2	0		0	0	9		9	7	1	2.060000	-9.397732	1	0.170000	NM_198458			4	2		48	39	0		1			0	0	9	0		8.273008e-01	0	0	0	0	0	0	4	48
ZNF132	7691	broad.mit.edu	37	19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CTGGAGCTGCGGCTGAAGGAT	0.498																																						ENST00000254166.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1576-1578)Cgc>Tgc		zinc finger protein 132		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	78.0	78.0		1576	1.4	0.9	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	ZNF132	NM_003433.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	526/707	58945235	1,13005	2203	4300	6503	SO:0001583	missense	7691	2	121412	36				g.chr19:58945235G>A	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.1576C>T	chr19.hg19:g.58945235G>A	ENSP00000254166:p.Arg526Cys	0					CTD-2619J13.17_ENST00000594816.1_lincRNA	p.R526C	NM_003433.3	NP_003424.3	1	2	3	2.033829	P52740	ZN132_HUMAN		3	1976	-		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)	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	1	1	hg19	c.1576C>T	CCDS12980.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745748	0.30955	2.27E-4	0.0	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.36	0.22044	3.57	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.31804	0.96	0.09310	N	1	B	0.24721	0.11	B	0.16289	0.015	T	0.39820	-0.9595	9	0.33141	T	0.24	.	6.1092	0.20092	0.3513:0.0:0.6487:0.0	.	526	P52740	ZN132_HUMAN	C	526	ENSP00000254166:R526C	ENSP00000254166:R526C	R	-	1	0	0	ZNF132	63637047	63637047	0.000000	0.05858	0.941000	0.38009	0.994000	0.84299	-2.749000	0.00793	0.146000	0.19002	0.655000	0.94253	CGC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.194813	1	0.170000	NM_003433			62	61		245	239	1		1	0		0	0	60	0		1	5.060461e-01	0	0	0	8	0	62	245
ZNF132	7691	broad.mit.edu	37	19	58945596	58945596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CACATTGACTGCACTCATAAG	0.468																																						ENST00000254166.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.990633	0.990000	1.000000																										0				19						c.(1213-1215)tgC>tgT		zinc finger protein 132							112.0	105.0	108.0					19																	58945596		2203	4300	6503	SO:0001819	synonymous_variant	7691	0	0					g.chr19:58945596G>A	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.1215C>T	chr19.hg19:g.58945596G>A		0						p.C405C	NM_003433.3	NP_003424.3	1	2	3	2.033829	P52740	ZN132_HUMAN		3	1615	-		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)	Q32MI9	Silent	SNP	ENST00000254166.3	1	1	hg19	c.1215C>T	CCDS12980.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	1	0	1		2	2	2	0		0	0	100		100	97	1	2.060000	-13.951880	1	0.170000	NM_003433			42	40		386	371	1		1	0		0	0	100	0		1	2.643305e-01	0	0	0	10	0	42	386
ZNF324	25799	broad.mit.edu	37	19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q|ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	472					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687																																						ENST00000536459.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1414-1416)cGg>cAg		zinc finger protein 324							34.0	36.0	35.0					19																	58983274		2202	4298	6500	SO:0001583	missense	25799	0	0					g.chr19:58983274G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1415G>A	chr19.hg19:g.58983274G>A	ENSP00000444812:p.Arg472Gln	0					ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q	p.R472Q			1	2	3	2.033829	O75467	Z324A_HUMAN		4	2124	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	1	1	hg19	c.1415G>A	CCDS12981.1	1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200357	0.09652	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17691	2.26;2.26;2.26	3.84	1.72	0.24424	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.428368	0.17271	N	0.180378	T	0.05044	0.0135	N	0.01015	-1.05	0.29344	N	0.865829	P	0.47034	0.889	P	0.45856	0.495	T	0.18241	-1.0343	10	0.02654	T	1	.	8.0107	0.30351	0.2079:0.0:0.7921:0.0	.	472	O75467	Z324A_HUMAN	Q	472;472;462;249	ENSP00000196482:R472Q;ENSP00000444812:R472Q;ENSP00000439588:R249Q	ENSP00000196482:R472Q	R	+	2	0	0	ZNF324	63675086	63675086	0.004000	0.15560	0.994000	0.49952	0.413000	0.31143	-0.263000	0.08670	0.597000	0.29811	-0.497000	0.04613	CGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.856916	1	0.170000	NM_014347			82	81		301	299	1		1	1		0	0	54	0		1	2.952778e-01	0	2	0	3	0	82	301
SLC27A5	10998	broad.mit.edu	37	19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	488					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)			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)		ATACCTAGCCCTACAGGGATG	0.612																																						ENST00000263093.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(1462-1464)Ggg>Tgg		solute carrier family 27 (fatty acid transporter), member 5							88.0	81.0	83.0					19																	59011712		2203	4300	6503	SO:0001583	missense	10998	0	0					g.chr19:59011712C>A	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.1462G>T	chr19.hg19:g.59011712C>A	ENSP00000263093:p.Gly488Trp	0					SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W|SLC27A5_ENST00000599700.1_5'Flank	p.G488W	NM_012254.2	NP_036386.1	1	2	3	2.033829	Q9Y2P5	S27A5_HUMAN		6	1571	-		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)	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	1	1	hg19	c.1462G>T	CCDS12983.1	1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160946	0.57368	.	.	ENSG00000083807	ENST00000263093	T	0.58210	0.35	5.33	1.55	0.23275	5.33	1.55	0.23275	AMP-dependent synthetase/ligase (1);	1.014630	0.07860	N	0.966174	T	0.68247	0.2980	M	0.79926	2.475	0.09310	N	0.999998	D	0.63880	0.993	D	0.66602	0.945	T	0.50792	-0.8786	10	0.72032	D	0.01	-5.2809	4.028	0.09697	0.0:0.5624:0.1893:0.2483	.	488	Q9Y2P5	S27A5_HUMAN	W	488	ENSP00000263093:G488W	ENSP00000263093:G488W	G	-	1	0	0	SLC27A5	63703524	63703524	0.000000	0.05858	0.684000	0.30055	0.879000	0.50718	0.011000	0.13264	0.593000	0.29745	0.563000	0.77884	GGG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.036120	1	0.170000	NM_012254			45	45		239	233	0		1			0	0	75	0		1	0	0	0	0	0	0	45	239
SLC27A5	10998	broad.mit.edu	37	19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	376					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)			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)		ATCACTGTCACGCCATGCTGC	0.557																																						ENST00000263093.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1126-1128)Gtg>Atg		solute carrier family 27 (fatty acid transporter), member 5							106.0	104.0	105.0					19																	59012709		2203	4300	6503	SO:0001583	missense	10998	2	121412	33				g.chr19:59012709C>T	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.1126G>A	chr19.hg19:g.59012709C>T	ENSP00000263093:p.Val376Met	0					SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M|SLC27A5_ENST00000599700.1_5'Flank	p.V376M	NM_012254.2	NP_036386.1	1	2	3	2.033829	Q9Y2P5	S27A5_HUMAN		4	1235	-		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)	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	1	1	hg19	c.1126G>A	CCDS12983.1	1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899941	0.72754	.	.	ENSG00000083807	ENST00000263093	T	0.51071	0.72	4.9	4.9	0.64082	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.073155	0.53938	D	0.000046	T	0.73353	0.3576	M	0.90759	3.145	0.38129	D	0.938098	D	0.89917	1.0	D	0.87578	0.998	T	0.81406	-0.0947	10	0.87932	D	0	-29.8733	13.9553	0.64144	0.0:1.0:0.0:0.0	.	376	Q9Y2P5	S27A5_HUMAN	M	376	ENSP00000263093:V376M	ENSP00000263093:V376M	V	-	1	0	0	SLC27A5	63704521	63704521	0.992000	0.36948	0.943000	0.38184	0.778000	0.44026	3.066000	0.50002	2.443000	0.82685	0.563000	0.77884	GTG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_012254			126	120		511	506	1		1	0		0	0	119	0		1	3.974961e-02	0	0	0	2	0	126	511
ZBTB45	84878	broad.mit.edu	37	19	59027844	59027844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027844C>T	ENST00000594051.1	-	2	1677	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	399	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ACGTAGGTGGCTCAGCACCTG	0.657																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1	1.000000	0.150000	6.700000e-01	2.400000e-01	0.380000	0.458033	0.380000	0.330000																										0				11						c.(1195-1197)gaG>gaA		zinc finger and BTB domain containing 45							55.0	54.0	54.0					19																	59027844		2203	4300	6503	SO:0001819	synonymous_variant	84878	0	0					g.chr19:59027844C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1197G>A	chr19.hg19:g.59027844C>T		0					ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E	p.E399E			1	2	3	2.033829	Q96K62	ZBT45_HUMAN		2	1677	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		Silent	SNP	ENST00000594051.1	0	1	hg19	c.1197G>A	CCDS12984.1	0																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	0	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-7.845434	1	0.170000	NM_032792			6	5		210	204	0		1	1		0	0	45	0		9.619092e-01	5.779972e-01	0	2	0	62	0	6	210
ZBTB45	84878	broad.mit.edu	37	19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	392	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				11						c.(1174-1176)cCt>cTt		zinc finger and BTB domain containing 45							38.0	39.0	39.0					19																	59027866		2203	4300	6503	SO:0001583	missense	84878	0	0					g.chr19:59027866G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1175C>T	chr19.hg19:g.59027866G>A	ENSP00000469089:p.Pro392Leu	0					ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L	p.P392L			1	2	3	2.033829	Q96K62	ZBT45_HUMAN		2	1655	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		Missense_Mutation	SNP	ENST00000594051.1	1	1	hg19	c.1175C>T	CCDS12984.1	1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.615762	0.28801	.	.	ENSG00000119574	ENST00000354590	T	0.11712	2.75	3.41	2.31	0.28768	3.41	2.31	0.28768	.	0.269932	0.29760	N	0.011269	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30060	-0.9991	10	0.54805	T	0.06	.	10.4857	0.44719	0.0:0.2004:0.7996:0.0	.	392	Q96K62	ZBT45_HUMAN	L	392	ENSP00000346603:P392L	ENSP00000346603:P392L	P	-	2	0	0	ZBTB45	63719678	63719678	0.827000	0.29292	0.005000	0.12908	0.256000	0.26092	4.923000	0.63412	0.953000	0.37825	0.467000	0.42956	CCT	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_032792			30	29		147	143	0		1	1		0	0	43	0		1	9.996886e-01	0	22	0	43	0	30	147
ZBTB45	84878	broad.mit.edu	37	19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	309	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(925-927)caG>caT		zinc finger and BTB domain containing 45							36.0	37.0	37.0					19																	59028114		2203	4298	6501	SO:0001583	missense	84878	0	0					g.chr19:59028114C>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.927G>T	chr19.hg19:g.59028114C>A	ENSP00000469089:p.Gln309His	0					ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H	p.Q309H			1	2	3	2.033829	Q96K62	ZBT45_HUMAN		2	1407	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		Missense_Mutation	SNP	ENST00000594051.1	1	1	hg19	c.927G>T	CCDS12984.1	1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481198	0.26598	.	.	ENSG00000119574	ENST00000354590	T	0.09630	2.96	4.12	-4.62	0.03370	4.12	-4.62	0.03370	.	0.627301	0.14119	N	0.340177	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.30357	-0.9981	10	0.56958	D	0.05	.	2.0473	0.03563	0.1271:0.3098:0.1254:0.4378	.	309	Q96K62	ZBT45_HUMAN	H	309	ENSP00000346603:Q309H	ENSP00000346603:Q309H	Q	-	3	2	2	ZBTB45	63719926	63719926	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	-1.308000	0.02730	-0.845000	0.04179	0.467000	0.42956	CAG	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_032792			59	59		247	241	1		1	1		0	0	48	0		1	9.997357e-01	0	17	0	37	0	59	247
ZBTB45	84878	broad.mit.edu	37	19	59028774	59028774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	89	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)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(265-267)agC>agT		zinc finger and BTB domain containing 45							56.0	51.0	53.0					19																	59028774		2202	4300	6502	SO:0001819	synonymous_variant	84878	1	121392	33				g.chr19:59028774G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.267C>T	chr19.hg19:g.59028774G>A		0		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S	p.S89S			1	2	3	2.033829	Q96K62	ZBT45_HUMAN		2	747	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		Silent	SNP	ENST00000594051.1	1	1	hg19	c.267C>T	CCDS12984.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-4.600737	1	0.170000	NM_032792			103	102		344	339	1		1	1		0	0	72	0		1	9.999918e-01	0	11	0	48	0	103	344
CHMP2A	27243	broad.mit.edu	37	19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	200	Interaction with VPS4B.				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)			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)		GAGGCTGCGGCCTCTGCTTTT	0.612																																						ENST00000600118.1	1.000000	0.360000	7.800000e-01	4.500000e-01	0.570000	0.620353	0.570000	0.550000																										0				7						c.(598-600)Gcc>Acc		charged multivesicular body protein 2A							51.0	59.0	56.0					19																	59063087		2203	4300	6503	SO:0001583	missense	27243	0	0					g.chr19:59063087C>T	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.598G>A	chr19.hg19:g.59063087C>T	ENSP00000469240:p.Ala200Thr	0					CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T	p.A200T			1	2	3	2.033829	O43633	CHM2A_HUMAN		5	1023	-		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)	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	1	1	hg19	c.598G>A	CCDS12986.1	0	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859324	0.51376	.	.	ENSG00000130724	ENST00000312547	T	0.78364	-1.17	4.83	3.73	0.42828	4.83	3.73	0.42828	.	0.191125	0.46145	D	0.000301	T	0.56187	0.1968	N	0.08118	0	0.44439	D	0.99736	B	0.15141	0.012	B	0.11329	0.006	T	0.51896	-0.8647	10	0.22706	T	0.39	.	11.141	0.48402	0.0:0.7156:0.2844:0.0	.	200	O43633	CHM2A_HUMAN	T	200	ENSP00000310440:A200T	ENSP00000310440:A200T	A	-	1	0	0	CHMP2A	63754899	63754899	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	2.730000	0.47335	2.686000	0.91538	0.650000	0.86243	GCC	1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	1	0	1		2	2	2	0		0	0	117		117	113	1	2.060000	-4.981593	1	0.170000	NM_014453			24	24		500	495	0		1	1		0	0	117	0		9.999996e-01	1	0	52	0	729	0	24	500
CHMP2A	27243	broad.mit.edu	37	19	59065517	59065517	+	Silent	SNP	G	G	A	rs371618144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000312547.2_Silent_p.A21A|CHMP2A_ENST00000601220.1_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	21					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)			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)		CACGGTTCAGGGCCCTCTGGT	0.572																																						ENST00000600118.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(61-63)gcC>gcT		charged multivesicular body protein 2A							121.0	120.0	120.0					19																	59065517		2203	4300	6503	SO:0001819	synonymous_variant	27243	0	0					g.chr19:59065517G>A	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.63C>T	chr19.hg19:g.59065517G>A		0					CHMP2A_ENST00000312547.2_Silent_p.A21A|CHMP2A_ENST00000601220.1_Silent_p.A21A	p.A21A			1	2	3	2.033829	O43633	CHM2A_HUMAN		1	488	-		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)	B2R4W6|Q3ZTT0	Silent	SNP	ENST00000600118.1	1	1	hg19	c.63C>T	CCDS12986.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	1	0	1		2	2	2	0		0	0	163		163	160	1	2.060000	-3.222671	1	0.170000	NM_014453			136	135		711	698	1		1	1		0	0	163	0		1	1	0	279	0	644	0	136	711
MZF1	7593	broad.mit.edu	37	19	59073457	59073457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	ENST00000215057.2	-	6	2747	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	729					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCTGTGGACGCGCTGGTGCT	0.617																																						ENST00000215057.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				11						c.(2185-2187)cgC>cgT		myeloid zinc finger 1							33.0	29.0	30.0					19																	59073457		2179	4278	6457	SO:0001819	synonymous_variant	7593	0	0					g.chr19:59073457G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2187C>T	chr19.hg19:g.59073457G>A		0					MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	p.R729R	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	1	2	3	2.033829	P28698	MZF1_HUMAN		6	2747	-		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)	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	0	1	hg19	c.2187C>T	CCDS12988.1	1																																																																																								1.818227e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_198055			13	13		27	27	0		1	1		0	0	12	0		9.998191e-01	9.999360e-01	0	17	0	29	0	13	27
HCN2	610	broad.mit.edu	37	19	603718	603718	+	Silent	SNP	C	C	T	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	269					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|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)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCATTGTGATCGAGGACAACA	0.557																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				9						c.(805-807)atC>atT		hyperpolarization activated cyclic nucleotide-gated potassium channel 2		C		2,4398		0,2,2198	140.0	119.0	126.0		807	-3.1	1.0	19	dbSNP_134	126	1,8599		0,1,4299	no	coding-synonymous	HCN2	NM_001194.3		0,3,6497	TT,TC,CC		0.0116,0.0455,0.0231		269/890	603718	3,12997	2200	4300	6500	SO:0001819	synonymous_variant	610	11	121332	42				g.chr19:603718C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.807C>T	chr19.hg19:g.603718C>T		0						p.I269I	NM_001194.3	NP_001185.3	1	2	3	2.010022	Q9UL51	HCN2_HUMAN		2	860	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	1	1	hg19	c.807C>T	CCDS12035.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	1	0	1		2	2	2	0		0	0	83		83	84	1	2.060000	-3.319130	1	0.170000	NM_001194			56	56		348	339	1		1	0		0	0	83	0		1	7.055317e-01	0	1	0	16	0	56	348
POLRMT	5442	broad.mit.edu	37	19	623477	623477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	423					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCTTGCTTGGCAACGTGGGC	0.682																																						ENST00000588649.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1267-1269)Cca>Tca		polymerase (RNA) mitochondrial (DNA directed)							50.0	46.0	48.0					19																	623477		2203	4300	6503	SO:0001583	missense	5442	0	0					g.chr19:623477G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1267C>T	chr19.hg19:g.623477G>A	ENSP00000465759:p.Pro423Ser	0					LLNLR-299G3.1_ENST00000607288.1_RNA	p.P423S	NM_005035.3	NP_005026.3	1	2	3	2.010022	O00411	RPOM_HUMAN		6	1351	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60370	Missense_Mutation	SNP	ENST00000588649.2	1	1	hg19	c.1267C>T	CCDS12036.1	1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631471	0.29068	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.36	1.54	0.23209	4.36	1.54	0.23209	.	0.496370	0.20887	N	0.083892	T	0.24928	0.0605	L	0.40543	1.245	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.24476	-1.0159	10	0.07644	T	0.81	-11.3198	7.0383	0.25004	0.0889:0.0:0.6622:0.2488	.	423	O00411	RPOM_HUMAN	S	423	ENSP00000215591:P423S	ENSP00000215591:P423S	P	-	1	0	0	POLRMT	574477	574477	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.608000	0.36847	0.132000	0.18615	0.561000	0.74099	CCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_005035			75	74		316	309	1		1	1		0	0	66	0		1	1	0	34	0	93	0	75	316
POLRMT	5442	broad.mit.edu	37	19	629762	629762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	ENST00000588649.2	-	3	684	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	200					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCTCAGCTTCCCAGGGGCCT	0.701																																						ENST00000588649.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				20						c.(598-600)ggG>ggA		polymerase (RNA) mitochondrial (DNA directed)							6.0	7.0	6.0					19																	629762		2057	4033	6090	SO:0001819	synonymous_variant	5442	0	0					g.chr19:629762C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.600G>A	chr19.hg19:g.629762C>T		0						p.G200G	NM_005035.3	NP_005026.3	1	2	3	2.010022	O00411	RPOM_HUMAN		3	684	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60370	Silent	SNP	ENST00000588649.2	1	1	hg19	c.600G>A	CCDS12036.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	1	0	1		2	2	2	0		0	0	20		20	21	1	2.060000	-20.000000	1	0.170000	NM_005035			24	22		94	91	0		1	1		0	0	20	0		9.999998e-01	9.857114e-01	0	12	0	18	0	24	94
POLRMT	5442	broad.mit.edu	37	19	629970	629970	+	Missense_Mutation	SNP	C	C	T	rs113148837	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629970C>T	ENST00000588649.2	-	3	476	c.392G>A	c.(391-393)cGg>cAg	p.R131Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	131					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCTGGGTCCGCTTATCCTT	0.637													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000588649.2	1.000000	0.090000	3.900000e-01	1.500000e-01	0.240000	0.312403	0.240000	0.210000																										0				20						c.(391-393)cGg>cAg		polymerase (RNA) mitochondrial (DNA directed)		C	GLN/ARG	13,4393	20.2+/-43.8	0,13,2190	46.0	43.0	44.0		392	-8.3	0.0	19	dbSNP_132	44	0,8600		0,0,4300	no	missense	POLRMT	NM_005035.3	43	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	131/1231	629970	13,12993	2203	4300	6503	SO:0001583	missense	5442	38	121408	47				g.chr19:629970C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.392G>A	chr19.hg19:g.629970C>T	ENSP00000465759:p.Arg131Gln	0						p.R131Q	NM_005035.3	NP_005026.3	1	2	3	2.010022	O00411	RPOM_HUMAN		3	476	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O60370	Missense_Mutation	SNP	ENST00000588649.2	0	1	hg19	c.392G>A	CCDS12036.1	0	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.874	0.728691	0.15507	0.002951	0.0	ENSG00000099821	ENST00000215591	T	0.42900	0.96	4.16	-8.32	0.00996	4.16	-8.32	0.00996	.	1.256700	0.05662	N	0.587128	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12682	-1.0538	10	0.30854	T	0.27	-3.4379	2.1405	0.03774	0.1904:0.2481:0.0948:0.4667	.	131	O00411	RPOM_HUMAN	Q	131	ENSP00000215591:R131Q	ENSP00000215591:R131Q	R	-	2	0	0	POLRMT	580970	580970	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.052000	0.01401	-2.047000	0.00908	-0.459000	0.05422	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	0	0	0		2	2	2	0		0	0	59		59	67	1	2.060000	-3.132045	1	0.170000	NM_005035			6	5		317	303	0		1	1		0	0	59	0		9.598895e-01	6.218506e-01	0	2	0	103	0	6	317
RNF126	55658	broad.mit.edu	37	19	651781	651781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGGGATCTCGAAGCTGTCAT	0.677																																						ENST00000292363.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(271-273)ttC>ttT		ring finger protein 126							47.0	42.0	44.0					19																	651781		2203	4300	6503	SO:0001819	synonymous_variant	55658	0	0					g.chr19:651781G>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.273C>T	chr19.hg19:g.651781G>A		0						p.F91F	NM_194460.2	NP_919442.1	1	2	3	2.010022				4	428	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		Silent	SNP	ENST00000292363.5	1	1	hg19	c.273C>T	CCDS12039.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_017876			43	42		206	205	0		1	1		0	0	42	0		1	1	0	37	0	99	0	43	206
RNF126	55658	broad.mit.edu	37	19	652265	652265	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	ENST00000292363.5	-	3	321	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCTGTGGGAGCTGTGGAGGGG	0.687																																						ENST00000292363.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				1						c.(166-168)Gct>Tct		ring finger protein 126							70.0	62.0	65.0					19																	652265		2184	4282	6466	SO:0001583	missense	55658	0	0					g.chr19:652265C>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.166G>T	chr19.hg19:g.652265C>A	ENSP00000292363:p.Ala56Ser	0						p.A56S	NM_194460.2	NP_919442.1	1	2	3	2.010022				3	321	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		Missense_Mutation	SNP	ENST00000292363.5	0	1	hg19	c.166G>T	CCDS12039.1	1	.	.	.	.	.	.	.	.	.	.	c	5.854	0.341819	0.11069	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.13196	2.61	4.43	4.43	0.53597	4.43	4.43	0.53597	.	0.080536	0.49916	D	0.000122	T	0.05593	0.0147	N	0.04090	-0.28	0.31136	N	0.70716	B	0.22146	0.065	B	0.22753	0.041	T	0.22173	-1.0224	10	0.08599	T	0.76	.	10.094	0.42464	0.2162:0.7838:0.0:0.0	.	56	Q9BV68-2	.	S	56	ENSP00000292363:A56S	ENSP00000292363:A56S	A	-	1	0	0	RNF126	603265	603265	0.995000	0.38212	0.992000	0.48379	0.868000	0.49771	3.288000	0.51739	2.008000	0.58898	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_017876			12	12		24	24	0		1	1		0	0	9	0		9.996366e-01	1	0	48	0	106	0	12	24
FSTL3	10272	broad.mit.edu	37	19	677877	677877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	63	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGTGCTGTGCCTCCGGCAACA	0.647			T	CCND1	B-CLL																																	ENST00000166139.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)				L	L	CCND1		B-CLL		0										c.(187-189)gcC>gcT		follistatin-like 3 (secreted glycoprotein)							101.0	85.0	91.0					19																	677877		2203	4300	6503	SO:0001819	synonymous_variant	10272	0	0					g.chr19:677877C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.189C>T	chr19.hg19:g.677877C>T		0						p.A63A	NM_005860.2	NP_005851.1	1	2	3	2.010022	O95633	FSTL3_HUMAN		2	221	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A8K7E3	Silent	SNP	ENST00000166139.4	1	1	hg19	c.189C>T	CCDS12040.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	0	0	1		18	10	2	1		1	1	98		98	95	1	2.060000	-20.000000	1	0.170000	NM_005860			96	95		400	395	1		1	1		1	0	98	0		1	1	0	36	0	200	0	96	400
FSTL3	10272	broad.mit.edu	37	19	681539	681539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	238	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CATCGGCGTGCGCCACGCGGG	0.697			T	CCND1	B-CLL																																	ENST00000166139.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)				L	L	CCND1		B-CLL		0										c.(712-714)Cgc>Tgc		follistatin-like 3 (secreted glycoprotein)							26.0	23.0	24.0					19																	681539		2200	4296	6496	SO:0001583	missense	10272	2	120176	20				g.chr19:681539C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.712C>T	chr19.hg19:g.681539C>T	ENSP00000166139:p.Arg238Cys	0					FSTL3_ENST00000592947.1_3'UTR	p.R238C	NM_005860.2	NP_005851.1	1	2	3	2.010022	O95633	FSTL3_HUMAN		4	744	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	1	1	hg19	c.712C>T	CCDS12040.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432881	0.62844	.	.	ENSG00000070404	ENST00000166139	T	0.04119	3.7	3.88	3.88	0.44766	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.188903	0.47093	D	0.000242	T	0.20861	0.0502	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01378	-1.1370	10	0.62326	D	0.03	-31.728	14.5679	0.68191	0.0:1.0:0.0:0.0	.	238	O95633	FSTL3_HUMAN	C	238	ENSP00000166139:R238C	ENSP00000166139:R238C	R	+	1	0	0	FSTL3	632539	632539	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.358000	0.66064	2.011000	0.59026	0.462000	0.41574	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_005860			23	22		101	100	0		1	1		0	0	30	0		9.999997e-01	9.999996e-01	0	29	0	91	0	23	101
PALM	5064	broad.mit.edu	37	19	746591	746591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000338448.5	+	9	987	c.941C>T	c.(940-942)aCc>aTc	p.T314I	PALM_ENST00000264560.7_Missense_Mutation_p.T270I|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	314					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652																																						ENST00000338448.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				11						c.(940-942)aCc>aTc		paralemmin							43.0	36.0	39.0					19																	746591		2203	4300	6503	SO:0001583	missense	5064	0	0					g.chr19:746591C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.941C>T	chr19.hg19:g.746591C>T	ENSP00000341911:p.Thr314Ile	0					PALM_ENST00000264560.7_Missense_Mutation_p.T270I|PALM_ENST00000593172.1_3'UTR	p.T314I	NM_002579.2	NP_002570.2	1	2	3	2.010022	O75781	PALM_HUMAN		9	987	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	1	1	hg19	c.941C>T	CCDS32857.1	1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751746	0.69533	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30182	1.54;1.54	4.92	1.25	0.21368	4.92	1.25	0.21368	.	0.110204	0.64402	D	0.000010	T	0.51126	0.1656	M	0.77103	2.36	0.45762	D	0.99865	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.53655	-0.8408	10	0.87932	D	0	-25.5817	10.0812	0.42391	0.1401:0.5653:0.2946:0.0	.	270;314	O75781-2;O75781	.;PALM_HUMAN	I	314;270;179	ENSP00000341911:T314I;ENSP00000264560:T270I	ENSP00000264560:T270I	T	+	2	0	0	PALM	697591	697591	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.710000	0.54860	0.444000	0.26612	0.462000	0.41574	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_002579			36	36		194	190	1		1	0		0	0	30	0		1	8.754625e-01	0	0	0	22	0	36	194
PALM	5064	broad.mit.edu	37	19	746669	746669	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000338448.5	+	9	1065	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PALM_ENST00000264560.7_Missense_Mutation_p.P296H|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	340					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667																																						ENST00000338448.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(1018-1020)cCt>cAt		paralemmin							26.0	23.0	24.0					19																	746669		2201	4300	6501	SO:0001583	missense	5064	0	0					g.chr19:746669C>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1019C>A	chr19.hg19:g.746669C>A	ENSP00000341911:p.Pro340His	0					PALM_ENST00000264560.7_Missense_Mutation_p.P296H|PALM_ENST00000593172.1_3'UTR	p.P340H	NM_002579.2	NP_002570.2	1	2	3	2.010022	O75781	PALM_HUMAN		9	1065	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	1	1	hg19	c.1019C>A	CCDS32857.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306653	0.40795	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.17054	2.3;2.3	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.620673	0.15422	U	0.263170	T	0.22742	0.0549	M	0.72118	2.19	0.30887	N	0.730813	B;B	0.22746	0.074;0.053	B;B	0.22152	0.022;0.038	T	0.08513	-1.0718	10	0.54805	T	0.06	-9.4528	12.4245	0.55538	0.1799:0.8201:0.0:0.0	.	296;340	O75781-2;O75781	.;PALM_HUMAN	H	340;296;205	ENSP00000341911:P340H;ENSP00000264560:P296H	ENSP00000264560:P296H	P	+	2	0	0	PALM	697669	697669	0.000000	0.05858	0.761000	0.31378	0.168000	0.22595	1.022000	0.30052	2.154000	0.67381	0.462000	0.41574	CCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_002579			28	28		106	106	0		1	0		0	0	26	0		1	9.974130e-01	0	0	0	39	0	28	106
PTBP1	5725	broad.mit.edu	37	19	806450	806450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:806450C>T	ENST00000349038.4	+	9	1008	c.935C>T	c.(934-936)gCc>gTc	p.A312V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A338V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	312					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCCCCCCTGGCCATCCCCTCG	0.697																																						ENST00000349038.4	1.000000	0.190000	7.400000e-01	3.100000e-01	0.470000	0.521914	0.470000	0.420000																										0				19						c.(934-936)gCc>gTc		polypyrimidine tract binding protein 1							15.0	18.0	17.0					19																	806450		2190	4273	6463	SO:0001583	missense	5725	0	0					g.chr19:806450C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.935C>T	chr19.hg19:g.806450C>T	ENSP00000014112:p.Ala312Val	0					PTBP1_ENST00000356948.6_Missense_Mutation_p.A338V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron	p.A312V	NM_031991.3	NP_114368.1	1	2	3	2.010022	P26599	PTBP1_HUMAN		9	1008	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	0	1	hg19	c.935C>T	CCDS32859.1	0	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336728	0.24253	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50548	0.74;0.79;1.13	4.29	3.25	0.37280	4.29	3.25	0.37280	.	0.201845	0.41001	D	0.000969	T	0.44244	0.1284	L	0.56769	1.78	0.80722	D	1	B;B;B	0.31174	0.077;0.005;0.311	B;B;B	0.32677	0.044;0.014;0.15	T	0.43180	-0.9407	10	0.56958	D	0.05	-12.4848	11.1165	0.48264	0.0:0.9089:0.0:0.0911	.	312;331;338	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	338;331;312	ENSP00000349428:A338V;ENSP00000408096:A331V;ENSP00000014112:A312V	ENSP00000014112:A312V	A	+	2	0	0	PTBP1	757450	757450	1.000000	0.71417	0.926000	0.36857	0.023000	0.10783	4.477000	0.60223	0.804000	0.34136	-0.251000	0.11542	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1	0	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-8.469087	1	0.170000				6	6		160	152	0		1	1		0	0	16	1		9.602047e-01	8.962891e-01	0	10	0	101	0	6	160
PTBP1	5725	broad.mit.edu	37	19	807883	807883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000349038.4	+	10	1129	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	PTBP1_ENST00000356948.6_Missense_Mutation_p.Q378H|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	352	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCACACCCCAAAGCCTCTTTA	0.468																																						ENST00000349038.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1054-1056)caA>caC		polypyrimidine tract binding protein 1							222.0	199.0	207.0					19																	807883		2203	4300	6503	SO:0001583	missense	5725	0	0					g.chr19:807883A>C	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1056A>C	chr19.hg19:g.807883A>C	ENSP00000014112:p.Gln352His	0					PTBP1_ENST00000356948.6_Missense_Mutation_p.Q378H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H	p.Q352H	NM_031991.3	NP_114368.1	1	2	3	2.010022	P26599	PTBP1_HUMAN		10	1129	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	1	1	hg19	c.1056A>C	CCDS32859.1	1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642587	0.29246	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.44083	0.93;3.32;1.23;1.49	5.33	5.33	0.75918	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246333	0.41938	D	0.000782	T	0.36853	0.0982	L	0.42487	1.325	0.54753	D	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.002;0.004;0.009;0.004	T	0.11690	-1.0577	10	0.31617	T	0.26	-7.9015	14.4771	0.67554	1.0:0.0:0.0:0.0	.	18;352;371;378	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	378;371;352;18	ENSP00000349428:Q378H;ENSP00000408096:Q371H;ENSP00000014112:Q352H;ENSP00000342332:Q18H	ENSP00000014112:Q352H	Q	+	3	2	2	PTBP1	758883	758883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.419000	0.59835	2.006000	0.58801	0.528000	0.53228	CAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000				135	126		729	701	1		1	1		0	0	116	0		1	1	0	114	0	316	0	135	729
AZU1	566	broad.mit.edu	37	19	828350	828350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	60	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATCCATGCCCGCTTCGTGATG	0.667																																						ENST00000233997.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(178-180)cGc>cAc		azurocidin 1							41.0	47.0	45.0					19																	828350		2203	4296	6499	SO:0001583	missense	566	0	0					g.chr19:828350G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.179G>A	chr19.hg19:g.828350G>A	ENSP00000233997:p.Arg60His	0						p.R60H	NM_001700.3	NP_001691.1	1	2	3	2.010022	P20160	CAP7_HUMAN		2	200	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	1	1	hg19	c.179G>A	CCDS12044.1	1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134797	0.37728	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89050	-2.46	2.4	-1.21	0.09524	2.4	-1.21	0.09524	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89417	0.6709	M	0.82923	2.615	0.09310	N	1	D	0.56521	0.976	P	0.51229	0.663	T	0.80141	-0.1506	9	0.66056	D	0.02	.	2.6299	0.04941	0.3483:0.2644:0.3873:0.0	.	60	P20160	CAP7_HUMAN	H	74;60	ENSP00000233997:R60H	ENSP00000233997:R60H	R	+	2	0	0	AZU1	779350	779350	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.409000	0.07160	-0.061000	0.13110	0.511000	0.50034	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-2.923319	1	0.170000	NM_001700			151	149		476	468	0		1			0	0	80	0		1	0	0	0	0	0	0	151	476
ARID3A	1820	broad.mit.edu	37	19	964313	964313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	278	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	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)		GCTGTACGTGCTGGTGACGGA	0.617																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(832-834)Ctg>Atg		AT rich interactive domain 3A (BRIGHT-like)							154.0	117.0	129.0					19																	964313		2203	4300	6503	SO:0001583	missense	1820	0	0					g.chr19:964313C>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.832C>A	chr19.hg19:g.964313C>A	ENSP00000263620:p.Leu278Met	0						p.L278M	NM_005224.2	NP_005215.1	1	2	3	2.010022	Q99856	ARI3A_HUMAN		5	1159	+		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)	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	1	1	hg19	c.832C>A	CCDS12050.1	1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578725	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.68025	-0.3	4.5	3.2	0.36748	4.5	3.2	0.36748	ARID/BRIGHT DNA-binding domain (5);	0.152498	0.45361	D	0.000380	T	0.79423	0.4443	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81448	-0.0928	10	0.72032	D	0.01	-15.9204	10.6806	0.45813	0.0:0.8824:0.0:0.1176	.	278	Q99856	ARI3A_HUMAN	M	278	ENSP00000263620:L278M	ENSP00000263620:L278M	L	+	1	2	2	ARID3A	915313	915313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.061000	0.61500	0.561000	0.74099	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_005224			38	38		177	173	1		1	1		0	0	66	0		1	9.521070e-01	0	4	0	22	0	38	177
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T	rs535674511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	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)		AAGGAggcggcggcggcggcg	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		9042	0.002		0.0	False		,,,				2504	0.0				Pancreas(29;54 1022 32760 50921)	ENST00000263620.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G552G(1)	endometrium(1)	10						c.(1654-1656)ggC>ggT		AT rich interactive domain 3A (BRIGHT-like)							22.0	30.0	28.0					19																	971939		2198	4283	6481	SO:0001819	synonymous_variant	1820	16	119976	39				g.chr19:971939C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	chr19.hg19:g.971939C>T		0						p.G552G	NM_005224.2	NP_005215.1	1	2	3	2.010022	Q99856	ARI3A_HUMAN		9	1983	+		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)	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	1	1	hg19	c.1656C>T	CCDS12050.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	1	0	1		2	2	2	0		0	0	71		71	82	1	2.060000	-20.000000	1	0.170000	NM_005224			66	64		285	317	0		1	0		0	0	71	0		1	7.325820e-01	0	0	0	13	0	66	285
WDR18	57418	broad.mit.edu	37	19	990913	990913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:990913C>A	ENST00000251289.5	+	5	682	c.659C>A	c.(658-660)gCa>gAa	p.A220E	WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	220					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TCCATCATGGCAGTGACCATG	0.652																																						ENST00000251289.5	1.000000	0.150000	5.000000e-01	2.200000e-01	0.330000	0.392728	0.330000	0.300000																										0				7						c.(658-660)gCa>gAa		WD repeat domain 18							73.0	67.0	69.0					19																	990913		2202	4299	6501	SO:0001583	missense	57418	0	0					g.chr19:990913C>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.659C>A	chr19.hg19:g.990913C>A	ENSP00000251289:p.Ala220Glu	0					WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	p.A220E	NM_024100.3	NP_077005.2	1	2	3	2.010022	Q9BV38	WDR18_HUMAN		5	682	+		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)	O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	0	1	hg19	c.659C>A	CCDS12051.1	0	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350431	0.41599	.	.	ENSG00000065268	ENST00000251289	T	0.20332	2.08	3.93	3.93	0.45458	3.93	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190944	0.46442	D	0.000281	T	0.28001	0.0690	M	0.70595	2.14	0.43390	D	0.995501	P	0.44776	0.843	B	0.41723	0.365	T	0.29852	-0.9998	10	0.72032	D	0.01	.	15.1128	0.72372	0.0:1.0:0.0:0.0	.	220	Q9BV38	WDR18_HUMAN	E	220	ENSP00000251289:A220E	ENSP00000251289:A220E	A	+	2	0	0	WDR18	941913	941913	1.000000	0.71417	0.198000	0.23420	0.043000	0.13939	7.146000	0.77373	2.034000	0.60081	0.591000	0.81541	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.553999	1	0.170000				8	8		300	297	0		1	1		0	0	50	0		9.891878e-01	9.558512e-01	0	8	0	199	0	8	300
RANBP3	8498	broad.mit.edu	37	19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	259					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAATACAAAGGCTTGCTGTGT	0.468																																						ENST00000340578.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(775-777)gCc>gTc		RAN binding protein 3							127.0	132.0	130.0					19																	5928016		1917	4132	6049	SO:0001583	missense	8498	0	0					g.chr19:5928016G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.776C>T	chr19.hg19:g.5928016G>A	ENSP00000341483:p.Ala259Val	0					RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V	p.A259V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	1	2	3	2.010022	Q9H6Z4	RANB3_HUMAN		9	833	-			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	1	1	hg19	c.776C>T	CCDS42478.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.32988	1.43;1.43;2.19;1.44	5.4	4.36	0.52297	5.4	4.36	0.52297	.	0.243763	0.42294	D	0.000729	T	0.36991	0.0987	L	0.57536	1.79	0.40303	D	0.978638	P;P;P;P;P;P;P	0.51653	0.897;0.911;0.835;0.835;0.897;0.947;0.911	P;B;B;B;P;P;B	0.49853	0.624;0.363;0.363;0.363;0.566;0.566;0.44	T	0.10941	-1.0608	10	0.39692	T	0.17	-13.6051	11.1458	0.48430	0.089:0.0:0.911:0.0	.	131;254;131;186;191;254;259	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	V	259;254;191;190;131	ENSP00000341483:A259V;ENSP00000404837:A254V;ENSP00000034275:A191V;ENSP00000445071:A131V	ENSP00000034275:A191V	A	-	2	0	0	RANBP3	5879016	5879016	0.890000	0.30428	0.138000	0.22173	0.044000	0.14063	3.779000	0.55379	2.536000	0.85505	0.655000	0.94253	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	1	0	1		2	2	2	0		0	0	96		96	92	1	2.060000	-20.000000	1	0.170000	NM_007322			122	120		473	458	1		1	1		0	0	96	0		1	1	0	52	0	171	0	122	473
RFX2	5990	broad.mit.edu	37	19	6042117	6042117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						CAGGATACACGTGCTGCACCG	0.597																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5	1.000000	0.550000	9.900000e-01	6.600000e-01	0.800000	0.810861	0.800000	1.000000																										0				21						c.(196-198)caC>caT		regulatory factor X, 2 (influences HLA class II expression)							136.0	100.0	112.0					19																	6042117		2203	4300	6503	SO:0001819	synonymous_variant	5990	0	0					g.chr19:6042117G>A		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.198C>T	chr19.hg19:g.6042117G>A		0					RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	p.H66H	NM_000635.3	NP_000626.2	1	2	3	2.010022	P48378	RFX2_HUMAN		4	347	-			A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	1	1	hg19	c.198C>T	CCDS12157.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_000635			32	32		451	446	0		1	0		0	0	70	0		1	5.880784e-02	0	0	0	6	0	32	451
ACSBG2	81616	broad.mit.edu	37	19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000586696.1	+	5	734	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V103A|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	153					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)			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						CATGCCAAAGTGAACATCTTG	0.468																																						ENST00000586696.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(457-459)gTg>gCg		acyl-CoA synthetase bubblegum family member 2							168.0	156.0	160.0					19																	6156513		2203	4300	6503	SO:0001583	missense	81616	0	0					g.chr19:6156513T>C		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.458T>C	chr19.hg19:g.6156513T>C	ENSP00000465589:p.Val153Ala	0					ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V103A|ACSBG2_ENST00000588485.1_Intron	p.V153A			1	2	3	2.010022	Q5FVE4	ACBG2_HUMAN		5	734	+			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	1	1	hg19	c.458T>C	CCDS12159.1	1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779798	0.16120	.	.	ENSG00000130377	ENST00000252669	T	0.36878	1.23	5.9	4.82	0.62117	5.9	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.35677	N	0.003056	T	0.10035	0.0246	N	0.01640	-0.785	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.004;0.006	T	0.29488	-1.0010	10	0.02654	T	1	-42.6966	4.5681	0.12196	0.0:0.2211:0.0:0.7789	.	153;153	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	153	ENSP00000252669:V153A	ENSP00000252669:V153A	V	+	2	0	0	ACSBG2	6107513	6107513	1.000000	0.71417	0.892000	0.35008	0.963000	0.63663	5.382000	0.66213	2.251000	0.74343	0.528000	0.53228	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	1	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_030924			137	136		518	509	1		1			0	0	150	0		1	0	0	0	0	0	0	137	518
ACSBG2	81616	broad.mit.edu	37	19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000586696.1	+	11	1619	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588304.1_Missense_Mutation_p.G398E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	448					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)			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						ATCTTGACTGGGTGTAAGAAT	0.527																																						ENST00000586696.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1342-1344)gGg>gAg		acyl-CoA synthetase bubblegum family member 2							230.0	214.0	219.0					19																	6185467		2203	4300	6503	SO:0001583	missense	81616	0	0					g.chr19:6185467G>A		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.1343G>A	chr19.hg19:g.6185467G>A	ENSP00000465589:p.Gly448Glu	0					ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588304.1_Missense_Mutation_p.G398E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E	p.G448E			1	2	3	2.010022	Q5FVE4	ACBG2_HUMAN		11	1619	+			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	1	1	hg19	c.1343G>A	CCDS12159.1	1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517510	0.64634	.	.	ENSG00000130377	ENST00000252669	T	0.15487	2.42	4.76	4.76	0.60689	4.76	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.000000	0.44483	D	0.000445	T	0.48314	0.1493	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.58132	-0.7690	10	0.72032	D	0.01	-22.657	16.3481	0.83151	0.0:0.0:1.0:0.0	.	448;448	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	448	ENSP00000252669:G448E	ENSP00000252669:G448E	G	+	2	0	0	ACSBG2	6136467	6136467	1.000000	0.71417	0.555000	0.28281	0.355000	0.29361	6.292000	0.72725	2.208000	0.71279	0.555000	0.69702	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	1	0	1		2	2	2	0		0	0	285		285	284	1	2.060000	-3.222710	1	0.170000	NM_030924			220	217		1087	1061	1		1			0	0	285	0		1	0	0	0	0	0	0	220	1087
MLLT1	4298	broad.mit.edu	37	19	6213122	6213122	+	Silent	SNP	G	G	A	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	537					negative regulation of protein kinase activity (GO:0006469)|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 elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637			T	MLL	AL																																	ENST00000252674.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""				L	L	MLL		AL		0				17						c.(1609-1611)ttC>ttT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1				3,4403	6.2+/-15.9	0,3,2200	172.0	155.0	161.0		1611	-5.8	0.9	19	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLLT1	NM_005934.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		537/560	6213122	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4298	9	121412	44				g.chr19:6213122G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1611C>T	chr19.hg19:g.6213122G>A		0					MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	p.F537F	NM_005934.3	NP_005925.2	1	2	3	2.010022	Q03111	ENL_HUMAN		12	1774	-			Q14768	Silent	SNP	ENST00000252674.7	1	1	hg19	c.1611C>T	CCDS12160.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_005934			105	104		570	552	1		1	1		0	0	121	0		1	9.999939e-01	0	19	0	74	0	105	570
MLLT1	4298	broad.mit.edu	37	19	6213356	6213356	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	515					negative regulation of protein kinase activity (GO:0006469)|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 elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721			T	MLL	AL																																	ENST00000252674.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""				L	L	MLL		AL		0				17						c.(1543-1545)Ctg>Ttg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							53.0	63.0	60.0					19																	6213356		2202	4297	6499	SO:0001819	synonymous_variant	4298	0	0					g.chr19:6213356G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1543C>T	chr19.hg19:g.6213356G>A		0					MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	p.L515L	NM_005934.3	NP_005925.2	1	2	3	2.010022	Q03111	ENL_HUMAN		11	1706	-			Q14768	Silent	SNP	ENST00000252674.7	1	1	hg19	c.1543C>T	CCDS12160.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1		2	2	2	0		0	0	132		132	128	1	2.060000	-20.000000	1	0.170000	NM_005934			170	167		755	746	0		1	1		0	0	132	0		1	9.999999e-01	0	30	0	71	0	170	755
MLLT1	4298	broad.mit.edu	37	19	6213743	6213743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	491					negative regulation of protein kinase activity (GO:0006469)|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 elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667			T	MLL	AL																																	ENST00000252674.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""				L	L	MLL		AL		0				17						c.(1471-1473)taC>taT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							85.0	81.0	82.0					19																	6213743		2203	4300	6503	SO:0001819	synonymous_variant	4298	31	121412	44				g.chr19:6213743G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1473C>T	chr19.hg19:g.6213743G>A		0					MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	p.Y491Y	NM_005934.3	NP_005925.2	1	2	3	2.010022	Q03111	ENL_HUMAN		10	1636	-			Q14768	Silent	SNP	ENST00000252674.7	1	1	hg19	c.1473C>T	CCDS12160.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_005934			90	89		451	443	0		1	1		0	0	98	0		1	9.999972e-01	0	22	0	71	0	90	451
MLLT1	4298	broad.mit.edu	37	19	6222534	6222534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	236					negative regulation of protein kinase activity (GO:0006469)|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 elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642			T	MLL	AL																																	ENST00000252674.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""				L	L	MLL		AL		0				17						c.(706-708)ggC>ggT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							33.0	32.0	33.0					19																	6222534		2203	4300	6503	SO:0001819	synonymous_variant	4298	0	0					g.chr19:6222534G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.708C>T	chr19.hg19:g.6222534G>A		0						p.G236G	NM_005934.3	NP_005925.2	1	2	3	2.010022	Q03111	ENL_HUMAN		6	871	-			Q14768	Silent	SNP	ENST00000252674.7	1	1	hg19	c.708C>T	CCDS12160.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-4.125684	1	0.170000	NM_005934			42	42		142	141	0		1	1		0	0	31	0		1	9.999999e-01	0	20	0	71	0	42	142
MLLT1	4298	broad.mit.edu	37	19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	46	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|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 elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		19	19p13.3	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""				L	L	MLL		AL		0				17						c.(136-138)Cac>Tac		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							114.0	90.0	98.0					19																	6270647		2203	4300	6503	SO:0001583	missense	4298	0	0					g.chr19:6270647G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.136C>T	chr19.hg19:g.6270647G>A	ENSP00000252674:p.His46Tyr	0		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.H46Y	NM_005934.3	NP_005925.2	1	2	3	2.010022	Q03111	ENL_HUMAN		2	299	-			Q14768	Missense_Mutation	SNP	ENST00000252674.7	1	1	hg19	c.136C>T	CCDS12160.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889490	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.05510	-0.035	0.80722	D	1	B	0.22541	0.071	B	0.37304	0.246	T	0.49835	-0.8897	9	0.49607	T	0.09	-34.6303	16.6911	0.85322	0.0:0.0:1.0:0.0	.	46	Q03111	ENL_HUMAN	Y	46	.	ENSP00000252674:H46Y	H	-	1	0	0	MLLT1	6221647	6221647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_005934			45	45		235	231	1		1	1		0	0	37	0		1	9.999991e-01	0	20	0	93	0	45	235
ACER1	125981	broad.mit.edu	37	19	6309846	6309846	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1						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)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612																																						ENST00000301452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.e4-1		alkaline ceramidase 1							84.0	64.0	71.0					19																	6309846		2203	4300	6503	SO:0001630	splice_region_variant	125981	0	0					g.chr19:6309846C>A	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.351-1G>T	chr19.hg19:g.6309846C>A		0							NM_133492.2	NP_597999.1	1	2	3	2.010022	Q8TDN7	ACER1_HUMAN		4	428	-				Splice_Site	SNP	ENST00000301452.4	1	1	hg19		CCDS12161.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641999	0.47153	.	.	ENSG00000167769	ENST00000301452	.	.	.	4.28	4.28	0.50868	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2007	0.65703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ACER1	6260846	6260846	1.000000	0.71417	0.152000	0.22495	0.017000	0.09413	6.473000	0.73572	1.947000	0.56498	0.542000	0.68232	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_133492	Intron		46	42		192	187	1		1			0	0	44	0		1	0	0	0	0	0	0	46	192
GTF2F1	2962	broad.mit.edu	37	19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	64					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCGCCCGATTCGGGCATCTCC	0.612																																						ENST00000394456.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996807	0.990000	1.000000																										0				16						c.(190-192)Gaa>Aaa		general transcription factor IIF, polypeptide 1, 74kDa							131.0	137.0	135.0					19																	6389591		2203	4300	6503	SO:0001583	missense	2962	1	121412	42				g.chr19:6389591C>T		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.190G>A	chr19.hg19:g.6389591C>T	ENSP00000377969:p.Glu64Lys	0					GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	p.E64K	NM_002096.2	NP_002087.2	1	2	3	2.010022	P35269	T2FA_HUMAN		4	654	-			B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	1	1	hg19	c.190G>A	CCDS12165.1	1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030796	0.19590	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.46451	0.87;0.87	5.43	4.39	0.52855	5.43	4.39	0.52855	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053321	0.64402	D	0.000001	T	0.40247	0.1109	L	0.39514	1.22	0.58432	D	0.999998	B;B	0.34329	0.121;0.449	B;B	0.41571	0.051;0.36	T	0.12811	-1.0533	10	0.19590	T	0.45	-44.0396	15.1046	0.72310	0.0:0.8573:0.1427:0.0	.	36;64	E7EUG6;P35269	.;T2FA_HUMAN	K	64;36;124;37;64	ENSP00000377969:E64K;ENSP00000392107:E36K	ENSP00000377969:E64K	E	-	1	0	0	GTF2F1	6340591	6340591	1.000000	0.71417	0.826000	0.32828	0.013000	0.08279	5.432000	0.66514	1.283000	0.44513	-0.176000	0.13171	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	0	0	1		2	2	2	0		0	0	221		221	219	1	2.060000	-20.000000	1	0.170000	NM_002096			111	111		1048	1034	1		1	1		0	0	221	0		1	1	0	33	0	275	0	111	1048
DENND1C	79958	broad.mit.edu	37	19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	700					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCCAGGGAGTGGGGTTTTC	0.582																																						ENST00000381480.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(2098-2100)aCt>aTt		DENN/MADD domain containing 1C							23.0	24.0	24.0					19																	6467822		1886	4105	5991	SO:0001583	missense	79958	0	0					g.chr19:6467822G>A	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.2099C>T	chr19.hg19:g.6467822G>A	ENSP00000370889:p.Thr700Ile	0					DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	p.T700I	NM_024898.2	NP_079174.2	1	2	3	2.010022	Q8IV53	DEN1C_HUMAN		23	2211	-			B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	1	1	hg19	c.2099C>T	CCDS45938.1	1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313910	0.23908	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09911	3.1;2.93	4.47	-1.97	0.07503	4.47	-1.97	0.07503	.	2.337440	0.02089	N	0.053003	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31861	-0.9928	10	0.21014	T	0.42	0.0155	1.2983	0.02074	0.1571:0.2981:0.3339:0.2108	.	700	Q8IV53	DEN1C_HUMAN	I	700;656	ENSP00000370889:T700I;ENSP00000437805:T656I	ENSP00000370889:T700I	T	-	2	0	0	DENND1C	6418822	6418822	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.095000	0.11077	0.112000	0.17975	0.298000	0.19748	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_024898			32	31		77	73	1		1	1		0	0	14	0		1	1	0	32	0	93	0	32	77
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T	rs375158491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632																																						ENST00000381480.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.V66L(1)|p.V92L(1)	lung(2)	10						c.(196-198)Gtg>Atg		DENN/MADD domain containing 1C		C	MET/VAL	1,3867		0,1,1933	49.0	60.0	57.0		196	5.2	0.0	19		57	1,8261		0,1,4130	no	missense	DENND1C	NM_024898.2	21	0,2,6063	TT,TC,CC		0.0121,0.0259,0.0165	probably-damaging	66/802	6479048	2,12128	1934	4131	6065	SO:0001583	missense	79958	3	120872	33				g.chr19:6479048C>T	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.196G>A	chr19.hg19:g.6479048C>T	ENSP00000370889:p.Val66Met	0					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	p.V66M	NM_024898.2	NP_079174.2	1	2	3	2.010022	Q8IV53	DEN1C_HUMAN		5	308	-			B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	1	1	hg19	c.196G>A	CCDS45938.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698972	0.68501	2.59E-4	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.42513	0.97;0.97	5.24	5.24	0.73138	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.66713	0.2817	M	0.80422	2.495	0.21697	N	0.999583	D	0.76494	0.999	D	0.67725	0.953	T	0.60244	-0.7301	10	0.52906	T	0.07	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	M	66;22	ENSP00000370889:V66M;ENSP00000437805:V22M	ENSP00000370889:V66M	V	-	1	0	0	DENND1C	6430048	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_024898			101	98		451	437	1		1	0		0	0	91	0		1	9.284212e-01	0	0	0	22	0	101	451
TNFSF9	8744	broad.mit.edu	37	19	6534897	6534897	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCGGAACTCGGCCTTCGGTT	0.692																																						ENST00000245817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(583-585)tcG>tcA		tumor necrosis factor (ligand) superfamily, member 9							14.0	17.0	16.0					19																	6534897		2186	4283	6469	SO:0001819	synonymous_variant	8744	0	0					g.chr19:6534897G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.585G>A	chr19.hg19:g.6534897G>A		0						p.S195S	NM_003811.3	NP_003802.1	1	2	3	2.010022	P41273	TNFL9_HUMAN		3	623	+			Q2M3S2	Silent	SNP	ENST00000245817.3	1	1	hg19	c.585G>A	CCDS12169.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	1	0	1		2	2	2	0		0	0	24		24	20	1	2.060000	-20.000000	1	0.170000	NM_003811			36	36		86	84	1		1	1		0	0	24	0		1	9.999976e-01	0	15	0	40	0	36	86
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	rs202048657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000599359.1	-	5	1030	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17279	0.001		0.0	False		,,,				2504	0.0					ENST00000599359.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(649-651)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 14							158.0	129.0	139.0					19																	6665011		2203	4300	6503	SO:0001583	missense	8740	4	121412	38				g.chr19:6665011C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.649G>A	chr19.hg19:g.6665011C>T	ENSP00000469049:p.Val217Ile	0					TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	p.V217I			1	2	3	2.010022	O43557	TNF14_HUMAN		5	1030	-			A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	1	1	hg19	c.649G>A	CCDS12171.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	0	TNFSF14	6616011	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000				101	99		512	497	1		1	0		0	0	116	0		1	3.279255e-01	0	1	0	6	0	101	512
C3	718	broad.mit.edu	37	19	6684416	6684416	+	Silent	SNP	G	G	T	rs563352895	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					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)			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)	AGATCTCAAGGATCATAGTGT	0.453																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4153-4155)atC>atA		complement component 3	Intravenous Immunoglobulin(DB00028)						140.0	140.0	140.0					19																	6684416		2203	4300	6503	SO:0001819	synonymous_variant	718	0	0					g.chr19:6684416G>T	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.4155C>A	chr19.hg19:g.6684416G>T		0						p.I1385I	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		33	4247	-			A7E236	Silent	SNP	ENST00000245907.6	1	1	hg19	c.4155C>A	CCDS32883.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_000064			101	100		514	504	1		1	1		0	0	117	0		1	1	0	611	0	2903	0	101	514
C3	718	broad.mit.edu	37	19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1365					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)			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)	TTTATGGTGACCTTGAGGTCG	0.478																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4093-4095)Gtc>Ttc		complement component 3	Intravenous Immunoglobulin(DB00028)						285.0	244.0	258.0					19																	6684598		2203	4300	6503	SO:0001583	missense	718	0	0					g.chr19:6684598C>A	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.4093G>T	chr19.hg19:g.6684598C>A	ENSP00000245907:p.Val1365Phe	0						p.V1365F	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		32	4185	-			A7E236	Missense_Mutation	SNP	ENST00000245907.6	1	1	hg19	c.4093G>T	CCDS32883.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669874	0.67814	.	.	ENSG00000125730	ENST00000245907	T	0.35236	1.32	5.41	4.37	0.52481	5.41	4.37	0.52481	Alpha-macroglobulin, receptor-binding (2);	0.126503	0.52532	D	0.000067	T	0.65144	0.2663	M	0.91038	3.17	0.18873	N	0.999985	D	0.89917	1.0	D	0.72338	0.977	T	0.62338	-0.6875	10	0.56958	D	0.05	.	12.0112	0.53289	0.0:0.9154:0.0:0.0846	.	1365	P01024	CO3_HUMAN	F	1365	ENSP00000245907:V1365F	ENSP00000245907:V1365F	V	-	1	0	0	C3	6635598	6635598	0.348000	0.24861	0.020000	0.16555	0.214000	0.24535	2.073000	0.41519	1.413000	0.46997	0.580000	0.79431	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_000064			115	114		517	508	1		1	1		0	0	96	0		1	1	0	552	0	2718	0	115	517
C3	718	broad.mit.edu	37	19	6686219	6686219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1242					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)			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)	AGTCTTTTAGCTGCAGTAGGG	0.547																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3724-3726)caG>caA		complement component 3	Intravenous Immunoglobulin(DB00028)						229.0	211.0	217.0					19																	6686219		2203	4300	6503	SO:0001819	synonymous_variant	718	1	121412	39				g.chr19:6686219C>T	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.3726G>A	chr19.hg19:g.6686219C>T		0						p.Q1242Q	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		29	3818	-			A7E236	Silent	SNP	ENST00000245907.6	1	1	hg19	c.3726G>A	CCDS32883.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	0	1		2	2	2	0		0	0	255		255	254	1	2.060000	-20.000000	1	0.170000	NM_000064			223	219		892	882	0		1	1		0	0	255	0		1	1	0	279	0	1649	0	223	892
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T	rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					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)			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)	TCCAAGGCCCCCTGCCGCTTC	0.612																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3130-3132)Ggg>Agg		complement component 3	Intravenous Immunoglobulin(DB00028)						97.0	76.0	83.0					19																	6694466		2203	4300	6503	SO:0001583	missense	718	0	0					g.chr19:6694466C>T	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.3130G>A	chr19.hg19:g.6694466C>T	ENSP00000245907:p.Gly1044Arg	0						p.G1044R	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		24	3222	-			A7E236	Missense_Mutation	SNP	ENST00000245907.6	1	1	hg19	c.3130G>A	CCDS32883.1	1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542636	0.13250	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.76	1.07	0.20283	5.76	1.07	0.20283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.658785	0.16479	N	0.212637	T	0.12008	0.0292	N	0.02225	-0.63	0.09310	N	1	B	0.32968	0.392	B	0.27887	0.084	T	0.16276	-1.0408	10	0.38643	T	0.18	.	5.8472	0.18673	0.0:0.5259:0.2595:0.2146	.	1044	P01024	CO3_HUMAN	R	1044	ENSP00000245907:G1044R	ENSP00000245907:G1044R	G	-	1	0	0	C3	6645466	6645466	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.841000	0.27613	0.062000	0.16340	0.650000	0.86243	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-2.847062	1	0.170000	NM_000064			57	54		314	311	1		1	1		0	0	70	0		1	1	0	333	0	1648	0	57	314
C3	718	broad.mit.edu	37	19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1040					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)			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)	CCTGCCGCTTCTCTAGGCCGA	0.622																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3118-3120)gaG>gaT		complement component 3	Intravenous Immunoglobulin(DB00028)						108.0	84.0	92.0					19																	6694476		2203	4300	6503	SO:0001583	missense	718	0	0					g.chr19:6694476C>A	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.3120G>T	chr19.hg19:g.6694476C>A	ENSP00000245907:p.Glu1040Asp	0						p.E1040D	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		24	3212	-			A7E236	Missense_Mutation	SNP	ENST00000245907.6	1	1	hg19	c.3120G>T	CCDS32883.1	1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951487	0.02285	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.76	-2.6	0.06190	5.76	-2.6	0.06190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.649357	0.16985	N	0.191542	T	0.18257	0.0438	L	0.31804	0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.25751	T	0.34	.	3.7554	0.08584	0.101:0.2922:0.3974:0.2094	.	1040	P01024	CO3_HUMAN	D	1040	ENSP00000245907:E1040D	ENSP00000245907:E1040D	E	-	3	2	2	C3	6645476	6645476	0.000000	0.05858	0.164000	0.22755	0.039000	0.13416	-1.638000	0.02013	-0.149000	0.11215	-0.142000	0.14014	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_000064			64	62		330	325	1		1	1		0	0	81	0		1	1	0	370	0	1784	0	64	330
C3	718	broad.mit.edu	37	19	6696635	6696635	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	944					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)			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)	CCAGGGTGCGAACAGCCACAG	0.567																																						ENST00000245907.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2830-2832)gtT>gtG		complement component 3	Intravenous Immunoglobulin(DB00028)						167.0	161.0	163.0					19																	6696635		2203	4300	6503	SO:0001819	synonymous_variant	718	0	0					g.chr19:6696635A>C	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.2832T>G	chr19.hg19:g.6696635A>C		0						p.V944V	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		22	2924	-			A7E236	Silent	SNP	ENST00000245907.6	1	1	hg19	c.2832T>G	CCDS32883.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1		2	2	2	0		0	0	212		212	209	1	2.060000	-20.000000	1	0.170000	NM_000064			234	229		1160	1123	1		1	1		0	0	212	0		1	1	0	299	0	1738	0	234	1160
C3	718	broad.mit.edu	37	19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	358					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)			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)	GGGTGTCTTGGTGAAGTGGAT	0.612																																						ENST00000245907.6	1.000000	0.690000	1	7.800000e-01	0.890000	0.889508	0.890000	1.000000																										0				72						c.(1072-1074)aCc>aTc		complement component 3	Intravenous Immunoglobulin(DB00028)						257.0	229.0	239.0					19																	6712565		2203	4300	6503	SO:0001583	missense	718	0	0					g.chr19:6712565G>A	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.1073C>T	chr19.hg19:g.6712565G>A	ENSP00000245907:p.Thr358Ile	0						p.T358I	NM_000064.2	NP_000055.2	1	2	3	2.010022	P01024	CO3_HUMAN		10	1165	-			A7E236	Missense_Mutation	SNP	ENST00000245907.6	1	1	hg19	c.1073C>T	CCDS32883.1	1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824585	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.31769	1.48	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.153860	0.56097	D	0.000025	T	0.55401	0.1918	M	0.84082	2.675	0.31171	N	0.703253	D	0.89917	1.0	D	0.77557	0.99	T	0.60301	-0.7290	10	0.24483	T	0.36	.	13.1534	0.59503	0.0:0.1611:0.8389:0.0	.	358	P01024	CO3_HUMAN	I	358	ENSP00000245907:T358I	ENSP00000245907:T358I	T	-	2	0	0	C3	6663565	6663565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.349000	0.44054	2.392000	0.81423	0.561000	0.74099	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-14.360460	1	0.170000	NM_000064			69	69		860	843	0		1	1		0	0	145	0		1	1	0	141	0	1798	0	69	860
GPR108	56927	broad.mit.edu	37	19	6732321	6732321	+	Silent	SNP	G	G	A	rs202152370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.L118L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	360						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617																																						ENST00000264080.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1078-1080)Ctg>Ttg		G protein-coupled receptor 108							60.0	64.0	62.0					19																	6732321		2098	4212	6310	SO:0001819	synonymous_variant	56927	0	0					g.chr19:6732321G>A		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.1078C>T	chr19.hg19:g.6732321G>A		0					GPR108_ENST00000430424.4_Silent_p.L118L|GPR108_ENST00000598626.1_5'Flank	p.L360L	NM_001080452.1	NP_001073921.1	1	2	3	2.010022	Q9NPR9	GP108_HUMAN		12	1104	-			B9EJD7	Silent	SNP	ENST00000264080.7	1	1	hg19	c.1078C>T	CCDS42479.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.353310	1	0.170000				95	94		395	389	1		1	1		0	0	81	0		1	1	0	97	0	159	0	95	395
GPR108	56927	broad.mit.edu	37	19	6733016	6733016	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	ENST00000264080.7	-	10	941	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.I63I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	305						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGAGGAGAGAGATGCTCTTGG	0.647																																						ENST00000264080.7	1.000000	0.750000	1	9.900000e-01	0.990000	0.982306	0.990000	1.000000																										0				13						c.(913-915)atC>atA		G protein-coupled receptor 108							17.0	20.0	19.0					19																	6733016		1993	4157	6150	SO:0001819	synonymous_variant	56927	0	0					g.chr19:6733016G>T		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.915C>A	chr19.hg19:g.6733016G>T		0					GPR108_ENST00000430424.4_Silent_p.I63I|GPR108_ENST00000598626.1_5'Flank	p.I305I	NM_001080452.1	NP_001073921.1	1	2	3	2.010022	Q9NPR9	GP108_HUMAN		10	941	-			B9EJD7	Silent	SNP	ENST00000264080.7	0	1	hg19	c.915C>A	CCDS42479.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	0	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-17.643810	1	0.170000				10	10		73	73	0		1	1		0	0	16	0		9.974756e-01	9.999984e-01	0	52	0	195	0	10	73
GPR108	56927	broad.mit.edu	37	19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	277						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622																																						ENST00000264080.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(829-831)ttC>ttA		G protein-coupled receptor 108							59.0	69.0	65.0					19																	6733205		2132	4231	6363	SO:0001583	missense	56927	0	0					g.chr19:6733205G>T		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.831C>A	chr19.hg19:g.6733205G>T	ENSP00000264080:p.Phe277Leu	0					GPR108_ENST00000430424.4_Missense_Mutation_p.F35L|GPR108_ENST00000598626.1_5'Flank	p.F277L	NM_001080452.1	NP_001073921.1	1	2	3	2.010022	Q9NPR9	GP108_HUMAN		9	857	-			B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	1	1	hg19	c.831C>A	CCDS42479.1	1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795685	0.31777	.	.	ENSG00000125734	ENST00000264080;ENST00000430424;ENST00000552585	T	0.19105	2.17	3.88	0.287	0.15714	3.88	0.287	0.15714	.	0.226362	0.28036	U	0.016848	T	0.08846	0.0219	N	0.16368	0.405	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.21042	-1.0257	10	0.19147	T	0.46	-12.1953	2.8266	0.05487	0.3384:0.0:0.4603:0.2013	.	277	Q9NPR9	GP108_HUMAN	L	277;35;35	ENSP00000264080:F277L	ENSP00000264080:F277L	F	-	3	2	2	GPR108	6684205	6684205	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.852000	0.27764	0.419000	0.25927	0.561000	0.74099	TTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000				95	92		430	423	1		1	1		0	0	83	0		1	1	0	102	0	200	0	95	430
TRIP10	9322	broad.mit.edu	37	19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000313244.9	+	15	1757	c.1722A>C	c.(1720-1722)aaA>aaC	p.K574N	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Missense_Mutation_p.K410N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	574	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGAAGACAAAGGGGACGGCT	0.617																																						ENST00000313244.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1720-1722)aaA>aaC		thyroid hormone receptor interactor 10							62.0	70.0	67.0					19																	6751138		2203	4300	6503	SO:0001583	missense	9322	0	0					g.chr19:6751138A>C	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.1722A>C	chr19.hg19:g.6751138A>C	ENSP00000320117:p.Lys574Asn	0					TRIP10_ENST00000600428.1_Missense_Mutation_p.K410N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|CTD-3128G10.6_ENST00000594056.1_RNA	p.K574N			1	2	3	2.010022	Q15642	CIP4_HUMAN		15	1757	+			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	1	1	hg19	c.1722A>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.508009|3.508009	0.64410|0.64410	.|.	.|.	ENSG00000125733|ENSG00000125733	ENST00000313285;ENST00000313244|ENST00000420690	T;T|.	0.45276|.	0.9;0.9|.	4.74|4.74	-0.401|-0.401	0.12407|0.12407	4.74|4.74	-0.401|-0.401	0.12407|0.12407	Src homology-3 domain (4);|.	0.270973|0.270973	0.36134|0.36134	N|N	0.002772|0.002772	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.31207|0.31207	0.915|0.915	0.50171|0.50171	D|D	0.999853|0.999853	D;D|P	0.89917|0.39250	0.991;1.0|0.665	D;D|B	0.91635|0.39805	0.991;0.999|0.31	T|T	0.17048|0.17048	-1.0382|-1.0382	10|9	0.87932|0.87932	D|D	0|0	-25.5666|-25.5666	8.7794|8.7794	0.34783|0.34783	0.6617:0.0:0.3383:0.0|0.6617:0.0:0.3383:0.0	.|.	574;518|528	Q15642;Q15642-2|G5E9U1	CIP4_HUMAN;.|.	N|T	518;574|528	ENSP00000320493:K518N;ENSP00000320117:K574N|.	ENSP00000320117:K574N|ENSP00000415493:K528T	K|K	+|+	3|2	2|0	2|0	TRIP10|TRIP10	6702138|6702138	6702138|6702138	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	0.858000|0.858000	0.27845|0.27845	-0.116000|-0.116000	0.11893|0.11893	0.254000|0.254000	0.18369|0.18369	AAA|AAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000				107	107		515	504	1		1	1		0	0	94	0		1	1	0	524	0	640	0	107	515
SH2D3A	10045	broad.mit.edu	37	19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	391					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)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCCTCAGTGCGGCTGCGCGC	0.751																																						ENST00000245908.6	1.000000	0.780000	1	9.900000e-01	0.990000	0.986588	0.990000	1.000000																										0				24						c.(1171-1173)Gca>Aca		SH2 domain containing 3A							4.0	6.0	5.0					19																	6754363		1867	3774	5641	SO:0001583	missense	10045	0	0					g.chr19:6754363C>T	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.1171G>A	chr19.hg19:g.6754363C>T	ENSP00000245908:p.Ala391Thr	0					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	p.A391T	NM_005490.2	NP_005481.2	1	2	3	2.010022	Q9BRG2	SH23A_HUMAN		7	1440	-			A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	0	1	hg19	c.1171G>A	CCDS12173.1	1	.	.	.	.	.	.	.	.	.	.	C	1.228	-0.624921	0.03636	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28666	1.62;1.6	4.9	1.3	0.21679	4.9	1.3	0.21679	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.450276	0.18831	N	0.129962	T	0.06735	0.0172	N	0.01352	-0.895	0.25151	N	0.990424	B;B	0.27450	0.179;0.013	B;B	0.15484	0.013;0.011	T	0.27434	-1.0074	10	0.09338	T	0.73	-1.1375	2.6013	0.04867	0.2148:0.3824:0.0:0.4028	.	269;391	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	391;269	ENSP00000245908:A391T;ENSP00000393303:A269T	ENSP00000245908:A391T	A	-	1	0	0	SH2D3A	6705363	6705363	0.001000	0.12720	0.991000	0.47740	0.226000	0.24999	0.199000	0.17237	0.486000	0.27676	0.462000	0.41574	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-17.231710	1	0.170000	NM_005490			7	7		40	40	0		1			0	0	8	0		9.834786e-01	0	0	0	0	0	0	7	40
SH2D3A	10045	broad.mit.edu	37	19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	371					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)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCGGCCAGCGCCAGTGTCTGA	0.706																																						ENST00000245908.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999319	0.990000	1.000000																										0				24						c.(1111-1113)Gcg>Acg		SH2 domain containing 3A							6.0	7.0	7.0					19																	6754423		1889	3802	5691	SO:0001583	missense	10045	0	0					g.chr19:6754423C>T	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.1111G>A	chr19.hg19:g.6754423C>T	ENSP00000245908:p.Ala371Thr	0					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	p.A371T	NM_005490.2	NP_005481.2	1	2	3	2.010022	Q9BRG2	SH23A_HUMAN		7	1380	-			A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	0	1	hg19	c.1111G>A	CCDS12173.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770126	0.31320	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28069	1.63;1.63	4.9	-0.11	0.13580	4.9	-0.11	0.13580	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.664405	0.13120	N	0.412262	T	0.22244	0.0536	L	0.46741	1.465	0.24090	N	0.995915	B;B	0.18166	0.026;0.001	B;B	0.17433	0.018;0.011	T	0.24261	-1.0165	10	0.54805	T	0.06	-4.4563	3.4267	0.07413	0.4298:0.3462:0.14:0.084	.	249;371	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	371;249	ENSP00000245908:A371T;ENSP00000393303:A249T	ENSP00000245908:A371T	A	-	1	0	0	SH2D3A	6705423	6705423	0.196000	0.23350	0.357000	0.25798	0.351000	0.29236	-0.189000	0.09629	-0.162000	0.10964	-0.448000	0.05591	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999990	1	0.170000	NM_005490			14	13		66	62	0		1	1		0	0	14	0		9.997571e-01	9.999756e-01	0	40	0	61	0	14	66
SH2D3A	10045	broad.mit.edu	37	19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	127					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)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ATCAGGGTGTCCTCGCTAAAG	0.602																																						ENST00000245908.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(379-381)Gac>Tac		SH2 domain containing 3A							40.0	38.0	39.0					19																	6760689		2203	4300	6503	SO:0001583	missense	10045	0	0					g.chr19:6760689C>A	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.379G>T	chr19.hg19:g.6760689C>A	ENSP00000245908:p.Asp127Tyr	0					SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	p.D127Y	NM_005490.2	NP_005481.2	1	2	3	2.010022	Q9BRG2	SH23A_HUMAN		3	648	-			A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	1	1	hg19	c.379G>T	CCDS12173.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384192	0.25031	.	.	ENSG00000125731	ENST00000245908	T	0.16597	2.33	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.151862	0.30126	N	0.010344	T	0.28200	0.0696	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.05550	-1.0878	10	0.02654	T	1	-19.2134	13.6482	0.62294	0.0:1.0:0.0:0.0	.	127	Q9BRG2	SH23A_HUMAN	Y	127	ENSP00000245908:D127Y	ENSP00000245908:D127Y	D	-	1	0	0	SH2D3A	6711689	6711689	0.899000	0.30636	0.998000	0.56505	0.559000	0.35586	2.484000	0.45242	2.598000	0.87819	0.549000	0.68633	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005490			29	28		112	112	1		1	1		0	0	28	0		1	9.999997e-01	0	37	0	68	0	29	112
VAV1	7409	broad.mit.edu	37	19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000602142.1	+	2	294	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				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)			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						CAGTTCCTGTGCCTTAAGAAC	0.557																																						ENST00000602142.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(211-213)tGc>tAc		vav 1 guanine nucleotide exchange factor							151.0	131.0	138.0					19																	6820720		2203	4300	6503	SO:0001583	missense	7409	0	0					g.chr19:6820720G>A		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.212G>A	chr19.hg19:g.6820720G>A	ENSP00000472929:p.Cys71Tyr	0					VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C71Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y	p.C71Y	NM_005428.3	NP_005419.2	1	2	3	2.010022	P15498	VAV_HUMAN		2	294	+			B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	1	1	hg19	c.212G>A	CCDS12174.1	1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860052	0.71834	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.67209	-0.5728	10	0.87932	D	0	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	6;71;16;71	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	71;6	ENSP00000302269:C71Y;ENSP00000443242:C6Y	ENSP00000302269:C71Y	C	+	2	0	0	VAV1	6771720	6771720	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.410000	0.97335	2.212000	0.71576	0.484000	0.47621	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000				132	132		446	433	1		1	0		0	0	125	0		1	9.860990e-01	0	0	0	25	0	132	446
VAV1	7409	broad.mit.edu	37	19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000602142.1	+	10	1077	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R332Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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						CCTATGCAGCGAGTTCTCAAA	0.552																																						ENST00000602142.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				62						c.(994-996)cGa>cAa		vav 1 guanine nucleotide exchange factor							86.0	75.0	79.0					19																	6828154		2203	4300	6503	SO:0001583	missense	7409	0	0					g.chr19:6828154G>A		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.995G>A	chr19.hg19:g.6828154G>A	ENSP00000472929:p.Arg332Gln	0					VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R332Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q	p.R332Q	NM_005428.3	NP_005419.2	1	2	3	2.010022	P15498	VAV_HUMAN		10	1077	+			B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	1	1	hg19	c.995G>A	CCDS12174.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235768	0.79800	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;D	0.87729	-0.27;-2.29	4.5	4.5	0.54988	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95338	0.8487	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.98;0.999;0.998;1.0	P;P;D;D	0.74348	0.676;0.894;0.983;0.983	D	0.96788	0.9580	10	0.87932	D	0	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	235;332;277;332	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	332;235	ENSP00000302269:R332Q;ENSP00000443242:R235Q	ENSP00000302269:R332Q	R	+	2	0	0	VAV1	6779154	6779154	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	9.064000	0.93933	2.076000	0.62316	0.462000	0.41574	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.028808	1	0.170000				39	38		219	218	1		1	0		0	0	54	0		1	8.626980e-01	0	0	0	22	0	39	219
VAV1	7409	broad.mit.edu	37	19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000602142.1	+	13	1328	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000304076.2_Missense_Mutation_p.R416W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	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)			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						CTCGGTGGAACGGCGCTCCAA	0.612																																						ENST00000602142.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				62						c.(1246-1248)Cgg>Tgg		vav 1 guanine nucleotide exchange factor							57.0	46.0	50.0					19																	6828892		2203	4300	6503	SO:0001583	missense	7409	0	0					g.chr19:6828892C>T		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.1246C>T	chr19.hg19:g.6828892C>T	ENSP00000472929:p.Arg416Trp	0					VAV1_ENST00000599806.1_Missense_Mutation_p.R361W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000304076.2_Missense_Mutation_p.R416W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W	p.R416W	NM_005428.3	NP_005419.2	1	2	3	2.010022	P15498	VAV_HUMAN		13	1328	+			B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	1	1	hg19	c.1246C>T	CCDS12174.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651623	0.67472	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88586	-2.4;-2.4	5.25	-4.27	0.03744	5.25	-4.27	0.03744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.188612	0.43110	D	0.000606	D	0.89178	0.6641	L	0.36672	1.1	0.37942	D	0.932369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.68765	0.831;0.922;0.941;0.96	D	0.87035	0.2137	10	0.38643	T	0.18	.	16.8943	0.86096	0.8235:0.1765:0.0:0.0	.	319;416;361;416	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	416;319	ENSP00000302269:R416W;ENSP00000443242:R319W	ENSP00000302269:R416W	R	+	1	2	2	VAV1	6779892	6779892	0.969000	0.33509	0.411000	0.26484	0.687000	0.40016	0.569000	0.23638	-0.333000	0.08476	-0.238000	0.12139	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				39	37		219	216	1		1	1		0	0	53	0		1	9.937139e-01	0	3	0	44	0	39	219
VAV1	7409	broad.mit.edu	37	19	6836997	6836997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000602142.1	+	21	1998	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	VAV1_ENST00000596764.1_Splice_Site_p.G607D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584D|VAV1_ENST00000539284.1_Splice_Site_p.G542D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	639	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GGTGTTTAGGGCAGAAATACA	0.473																																						ENST00000602142.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1915-1917)gGc>gAc		vav 1 guanine nucleotide exchange factor							163.0	160.0	161.0					19																	6836997		2203	4300	6503	SO:0001630	splice_region_variant	7409	0	0					g.chr19:6836997G>A		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.1915-1G>A	chr19.hg19:g.6836997G>A		0					VAV1_ENST00000599806.1_Splice_Site_p.G584D|VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000596764.1_Splice_Site_p.G607D	p.G639D	NM_005428.3	NP_005419.2	1	2	3	2.010022	P15498	VAV_HUMAN		21	1998	+			B4DVK9|M0QXX6|Q15860	Splice_Site	SNP	ENST00000602142.1	1	0	hg19	c.1916G>A	CCDS12174.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092902	0.56075	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58940	0.67;0.3	4.95	4.95	0.65309	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.88704	2.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.967;0.987;0.998	D	0.83437	0.0041	10	0.59425	D	0.04	.	15.7303	0.77794	0.0:0.0:1.0:0.0	.	542;584;639	F5H5P4;Q96D37;P15498	.;.;VAV_HUMAN	D	639;542	ENSP00000302269:G639D;ENSP00000443242:G542D	ENSP00000302269:G639D	G	+	2	0	0	VAV1	6787997	6787997	1.000000	0.71417	0.999000	0.59377	0.294000	0.27393	7.495000	0.81514	2.307000	0.77673	0.478000	0.44815	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		94	93		573	563	1		1	0		0	0	118	0		1	8.689452e-01	0	0	0	24	0	94	573
VAV1	7409	broad.mit.edu	37	19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000602142.1	+	23	2111	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.E655*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	677	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						AGGCCCCATGGAGCGGGCAGG	0.602																																						ENST00000602142.1	1.000000	0.860000	1	9.800000e-01	0.990000	0.987960	0.990000	1.000000																										0				62						c.(2029-2031)Gag>Tag		vav 1 guanine nucleotide exchange factor							87.0	89.0	88.0					19																	6848025		2203	4300	6503	SO:0001587	stop_gained	7409	0	0					g.chr19:6848025G>T		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.2029G>T	chr19.hg19:g.6848025G>T	ENSP00000472929:p.Glu677*	0					VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.E655*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*	p.E677*	NM_005428.3	NP_005419.2	1	2	3	2.010022	P15498	VAV_HUMAN		23	2111	+			B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	0	1	hg19	c.2029G>T	CCDS12174.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926758	0.92319	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	3.68	3.68	0.42216	.	0.065910	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	677;580	.	ENSP00000302269:E677X	E	+	1	0	0	VAV1	6799025	6799025	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-16.586010	1	0.170000				55	54		527	522	0		1	0		0	0	110	0		1	8.426331e-01	0	0	0	34	0	55	527
EMR1	2015	broad.mit.edu	37	19	6924844	6924844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	649					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)			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)					TCTTGGCGAAGACTCTCTTCC	0.582																																						ENST00000312053.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1945-1947)aaG>aaA		egf-like module containing, mucin-like, hormone receptor-like 1							219.0	138.0	165.0					19																	6924844		2203	4300	6503	SO:0001819	synonymous_variant	2015	0	0					g.chr19:6924844G>A	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.1947G>A	chr19.hg19:g.6924844G>A		0					EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	p.K649K	NM_001974.4	NP_001965.3	1	2	3	2.010022	Q14246	EMR1_HUMAN		15	1984	+	all_hematologic(4;0.166)		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	1	1	hg19	c.1947G>A	CCDS12175.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				67	65		269	265	1		1			0	0	53	0		1	0	0	0	0	0	0	67	269
EMR1	2015	broad.mit.edu	37	19	6926385	6926385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926385C>T	ENST00000312053.4	+	16	2032	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	665					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)			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)					AGATGGGCTGCGCCATCATCG	0.532																																						ENST00000312053.4	1.000000	0.120000	4.800000e-01	1.900000e-01	0.300000	0.368135	0.300000	0.270000																										0				62						c.(1993-1995)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 1							122.0	115.0	118.0					19																	6926385		2203	4300	6503	SO:0001819	synonymous_variant	2015	1	121412	33				g.chr19:6926385C>T	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.1995C>T	chr19.hg19:g.6926385C>T		0					EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C	p.C665C	NM_001974.4	NP_001965.3	1	2	3	2.010022	Q14246	EMR1_HUMAN		16	2032	+	all_hematologic(4;0.166)		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	0	1	hg19	c.1995C>T	CCDS12175.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-6.907357	1	0.170000				6	6		253	248	0		1	0		0	0	46	0		9.633229e-01	4.692565e-03	0	0	0	4	0	6	253
ZNF557	79230	broad.mit.edu	37	19	7076418	7076418	+	Silent	SNP	C	C	T	rs2303796	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7076418C>T	ENST00000439035.2	+	5	366	c.126C>T	c.(124-126)gcC>gcT	p.A42A	ZNF557_ENST00000252840.6_Silent_p.A49A|ZNF557_ENST00000414706.1_Silent_p.A49A			Q8N988	ZN557_HUMAN	zinc finger protein 557	42	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.A49A(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGGATGTGGCCGTGGAGTTCA	0.582																																						ENST00000439035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A49A(1)	stomach(1)	17						c.(124-126)gcC>gcT		zinc finger protein 557							158.0	148.0	151.0					19																	7076418		2203	4300	6503	SO:0001819	synonymous_variant	79230	4364	121412	69				g.chr19:7076418C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.126C>T	chr19.hg19:g.7076418C>T		0					ZNF557_ENST00000414706.1_Silent_p.A49A|ZNF557_ENST00000252840.6_Silent_p.A49A	p.A42A			1	2	3	2.010022	Q8N988	ZN557_HUMAN		5	366	+			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	1	0	hg19	c.126C>T	CCDS45945.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-1.707342	0	0.170000	NM_024341			112	110		429	419	1		1	1		0	0	128	0		1	9.885229e-01	0	9	0	20	0	112	429
ZNF557	79230	broad.mit.edu	37	19	7081411	7081411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000439035.2	+	6	507	c.267G>A	c.(265-267)gaG>gaA	p.E89E	ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000414706.1_Silent_p.E96E			Q8N988	ZN557_HUMAN	zinc finger protein 557	89	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493																																						ENST00000439035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(265-267)gaG>gaA		zinc finger protein 557							60.0	63.0	62.0					19																	7081411		2187	4295	6482	SO:0001819	synonymous_variant	79230	0	0					g.chr19:7081411G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.267G>A	chr19.hg19:g.7081411G>A		0					ZNF557_ENST00000414706.1_Silent_p.E96E|ZNF557_ENST00000252840.6_Silent_p.E96E	p.E89E			1	2	3	2.010022	Q8N988	ZN557_HUMAN		6	507	+			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	1	1	hg19	c.267G>A	CCDS45945.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_024341			29	29		105	103	1		1	1		0	0	23	0		1	9.321232e-01	0	8	0	11	0	29	105
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000439035.2	+	8	1122	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000414706.1_Silent_p.F301F			Q8N988	ZN557_HUMAN	zinc finger protein 557	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483																																						ENST00000439035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(880-882)ttC>ttT		zinc finger protein 557							150.0	160.0	157.0					19																	7083365		2166	4268	6434	SO:0001819	synonymous_variant	79230	3	121272	37				g.chr19:7083365C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.882C>T	chr19.hg19:g.7083365C>T		0					ZNF557_ENST00000414706.1_Silent_p.F301F|ZNF557_ENST00000252840.6_Silent_p.F301F	p.F294F			1	2	3	2.010022	Q8N988	ZN557_HUMAN		8	1122	+			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	1	1	hg19	c.882C>T	CCDS45945.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-3.179944	1	0.170000	NM_024341			130	130		596	580	1		1	1		0	0	125	0		1	9.978720e-01	0	10	0	34	0	130	596
ZNF557	79230	broad.mit.edu	37	19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000439035.2	+	8	1241	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000414706.1_Missense_Mutation_p.T341I			Q8N988	ZN557_HUMAN	zinc finger protein 557	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423																																						ENST00000439035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1000-1002)aCt>aTt		zinc finger protein 557							93.0	102.0	99.0					19																	7083484		2184	4286	6470	SO:0001583	missense	79230	0	0					g.chr19:7083484C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1001C>T	chr19.hg19:g.7083484C>T	ENSP00000398965:p.Thr334Ile	0					ZNF557_ENST00000414706.1_Missense_Mutation_p.T341I|ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I	p.T334I			1	2	3	2.010022	Q8N988	ZN557_HUMAN		8	1241	+			Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	1	1	hg19	c.1001C>T	CCDS45945.1	1	.	.	.	.	.	.	.	.	.	.	C	1.185	-0.637016	0.03557	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.12672	2.66;2.66;2.66	1.32	0.255	0.15561	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17379	0.485	0.20926	N	0.99983	B;B	0.28512	0.214;0.178	B;B	0.27380	0.079;0.047	T	0.39522	-0.9610	9	0.02654	T	1	.	5.2928	0.15737	0.0:0.784:0.0:0.216	.	334;341	Q8N988;Q8N988-2	ZN557_HUMAN;.	I	341;341;334	ENSP00000252840:T341I;ENSP00000404065:T341I;ENSP00000398965:T334I	ENSP00000252840:T341I	T	+	2	0	0	ZNF557	7034484	7034484	0.000000	0.05858	0.881000	0.34555	0.052000	0.14988	-0.121000	0.10643	0.132000	0.18615	0.313000	0.20887	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_024341			68	68		343	339	1		1	1		0	0	85	0		1	9.103528e-01	0	4	0	19	0	68	343
INSR	3643	broad.mit.edu	37	19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A	rs371841833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000302850.5	-	22	3950	c.3808C>T	c.(3808-3810)Cgc>Tgc	p.R1270C	INSR_ENST00000341500.5_Missense_Mutation_p.R1258C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGCACATGCGCATGAGGTCA	0.607																																						ENST00000302850.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3808-3810)Cgc>Tgc		insulin receptor	"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	82.0	71.0	75.0		3808,3772	4.1	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INSR	NM_000208.2,NM_001079817.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1270/1383,1258/1371	7117408	1,13005	2203	4300	6503	SO:0001583	missense	3643	3	121412	33				g.chr19:7117408G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3808C>T	chr19.hg19:g.7117408G>A	ENSP00000303830:p.Arg1270Cys	0					INSR_ENST00000341500.5_Missense_Mutation_p.R1258C	p.R1270C	NM_000208.2	NP_000199.2	1	2	3	2.010022	P06213	INSR_HUMAN		22	3950	-			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	1	1	hg19	c.3808C>T	CCDS12176.1	1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249741	0.59212	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83163	-1.69;-1.69	5.14	4.1	0.47936	5.14	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.618783	0.13790	N	0.362574	T	0.77631	0.4159	L	0.50993	1.605	0.54753	D	0.999989	B;P	0.34522	0.401;0.455	B;B	0.27170	0.075;0.077	T	0.77289	-0.2643	10	0.66056	D	0.02	.	12.7767	0.57453	0.0:0.0:0.835:0.165	.	1258;1270	P06213-2;P06213	.;INSR_HUMAN	C	1270;1258	ENSP00000303830:R1270C;ENSP00000342838:R1258C	ENSP00000303830:R1270C	R	-	1	0	0	INSR	7068408	7068408	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	5.099000	0.64554	1.361000	0.45981	0.563000	0.77884	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				71	69		254	250	1		1	1		0	0	74	0		1	1	0	82	0	167	0	71	254
INSR	3643	broad.mit.edu	37	19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000302850.5	-	12	2573	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	INSR_ENST00000341500.5_Missense_Mutation_p.G799S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	811	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		G -> S (in dbSNP:rs35045353). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGTCGCAAGCCGGAGATGACC	0.612																																						ENST00000302850.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				66						c.(2431-2433)Ggc>Agc		insulin receptor	"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						117.0	70.0	86.0					19																	7142938		2203	4300	6503	SO:0001583	missense	3643	5	121412	34				g.chr19:7142938C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2431G>A	chr19.hg19:g.7142938C>T	ENSP00000303830:p.Gly811Ser	0					INSR_ENST00000341500.5_Missense_Mutation_p.G799S	p.G811S	NM_000208.2	NP_000199.2	1	2	3	2.010022	P06213	INSR_HUMAN		12	2573	-			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	1	1	hg19	c.2431G>A	CCDS12176.1	1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71579	-0.58;-0.58	5.56	5.56	0.83823	5.56	5.56	0.83823	Fibronectin, type III (3);	0.000000	0.45867	U	0.000332	T	0.70245	0.3202	M	0.79123	2.44	0.45822	D	0.998691	B;B	0.34200	0.103;0.441	B;B	0.27796	0.083;0.061	T	0.70788	-0.4777	10	0.36615	T	0.2	.	17.0297	0.86457	0.0:1.0:0.0:0.0	rs35045353	799;811	P06213-2;P06213	.;INSR_HUMAN	S	811;799	ENSP00000303830:G811S;ENSP00000342838:G799S	ENSP00000303830:G811S	G	-	1	0	0	INSR	7093938	7093938	0.970000	0.33590	0.957000	0.39632	0.675000	0.39556	2.293000	0.43558	2.609000	0.88269	0.655000	0.94253	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.308030	1	0.170000				25	25		124	120	1		1	1		0	0	50	0		9.999999e-01	9.999998e-01	0	46	0	95	0	25	124
INSR	3643	broad.mit.edu	37	19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000302850.5	-	5	1346	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000341500.5_Missense_Mutation_p.A402T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	402					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACACCAGAGCGTAGGATCGG	0.483																																						ENST00000302850.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1204-1206)Gct>Act		insulin receptor	"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						143.0	127.0	132.0					19																	7172365		2203	4300	6503	SO:0001583	missense	3643	0	0					g.chr19:7172365C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1204G>A	chr19.hg19:g.7172365C>T	ENSP00000303830:p.Ala402Thr	0					INSR_ENST00000341500.5_Missense_Mutation_p.A402T	p.A402T	NM_000208.2	NP_000199.2	1	2	3	2.010022	P06213	INSR_HUMAN		5	1346	-			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	1	1	hg19	c.1204G>A	CCDS12176.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550778	0.86127	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.45867	D	0.000338	T	0.81588	0.4854	L	0.60957	1.885	0.80722	D	1	D;D;D	0.57899	0.981;0.972;0.961	B;B;B	0.43889	0.381;0.4;0.435	T	0.83015	-0.0170	10	0.44086	T	0.13	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	393;402;402	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	T	402	ENSP00000303830:A402T;ENSP00000342838:A402T	ENSP00000303830:A402T	A	-	1	0	0	INSR	7123365	7123365	1.000000	0.71417	0.792000	0.32020	0.763000	0.43281	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.735104	1	0.170000				113	111		440	424	1		1	1		0	0	104	0		1	1	0	44	0	94	0	113	440
C19orf45	374877	broad.mit.edu	37	19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602																																						ENST00000361664.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(646-648)Gcc>Acc		chromosome 19 open reading frame 45							60.0	54.0	56.0					19																	7569075		2203	4300	6503	SO:0001583	missense	374877	0	0					g.chr19:7569075G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.646G>A	chr19.hg19:g.7569075G>A	ENSP00000355241:p.Ala216Thr	0					CTD-2207O23.12_ENST00000599312.1_5'Flank	p.A216T	NM_198534.2	NP_940936.2	1	2	3	2.010022	Q8NA69	CS045_HUMAN		3	787	+			Q8N115	Missense_Mutation	SNP	ENST00000361664.2	1	1	hg19	c.646G>A	CCDS12179.2	1	.	.	.	.	.	.	.	.	.	.	g	18.74	3.688119	0.68271	.	.	ENSG00000198723	ENST00000419849;ENST00000361664	T	0.21361	2.01	4.02	1.81	0.25067	4.02	1.81	0.25067	.	0.357489	0.29260	N	0.012663	T	0.29190	0.0726	M	0.62723	1.935	0.27481	N	0.952574	D	0.59357	0.985	P	0.55087	0.768	T	0.07271	-1.0781	10	0.62326	D	0.03	-29.0344	4.9702	0.14111	0.0994:0.0:0.5207:0.3799	.	216	Q8NA69	CS045_HUMAN	T	216	ENSP00000355241:A216T	ENSP00000355241:A216T	A	+	1	0	0	C19orf45	7475075	7475075	0.998000	0.40836	0.876000	0.34364	0.991000	0.79684	2.288000	0.43514	0.628000	0.30357	0.536000	0.68110	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.412268	1	0.170000	NM_198534			34	33		148	137	1		1	0		0	0	51	0		1	3.661726e-02	0	0	0	2	0	34	148
ZNF358	140467	broad.mit.edu	37	19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607																																						ENST00000597229.1	1.000000	0.360000	6.500000e-01	4.400000e-01	0.520000	0.566063	0.520000	0.510000																										0				8						c.(277-279)Gac>Aac		zinc finger protein 358							99.0	86.0	90.0					19																	7584405		2203	4300	6503	SO:0001583	missense	140467	0	0					g.chr19:7584405G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.277G>A	chr19.hg19:g.7584405G>A	ENSP00000472305:p.Asp93Asn	0					CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	p.D93N	NM_018083.4	NP_060553.4	1	2	3	2.010022	Q9NW07	ZN358_HUMAN		2	447	+			Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	1	1	hg19	c.277G>A	CCDS32890.2	0	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655071	0.67472	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07327	3.2	3.91	3.91	0.45181	3.91	3.91	0.45181	.	.	.	.	.	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	0.999998	P	0.43885	0.82	B	0.26969	0.075	T	0.38542	-0.9656	9	0.26408	T	0.33	-25.3346	14.2642	0.66104	0.0:0.0:1.0:0.0	.	93	Q9NW07	ZN358_HUMAN	N	93	ENSP00000377873:D93N	ENSP00000354703:D93N	D	+	1	0	0	ZNF358	7490405	7490405	0.975000	0.34042	0.250000	0.24296	0.609000	0.37215	3.926000	0.56491	2.137000	0.66172	0.456000	0.33151	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	1	0	1		2	2	2	0		0	0	188		188	185	1	2.060000	-4.480660	1	0.170000				34	34		746	735	0		1	1		0	0	188	0		1	9.980974e-01	0	5	0	203	0	34	746
MCOLN1	57192	broad.mit.edu	37	19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	118					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGACACCTTCGCAGCCTACAC	0.632																																						ENST00000264079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(352-354)Gca>Aca		mucolipin 1							147.0	124.0	132.0					19																	7591439		2203	4300	6503	SO:0001583	missense	57192	1	121412	35				g.chr19:7591439G>A	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.352G>A	chr19.hg19:g.7591439G>A	ENSP00000264079:p.Ala118Thr	0						p.A118T	NM_020533.2	NP_065394.1	1	2	3	2.010022	Q9GZU1	MCLN1_HUMAN		3	477	+			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	1	1	hg19	c.352G>A	CCDS12180.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020411	0.93462	.	.	ENSG00000090674	ENST00000264079	T	0.61158	0.13	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.53809	0.735	T	0.64283	-0.6444	10	0.32370	T	0.25	.	16.8808	0.86062	0.0:0.0:1.0:0.0	.	118	Q9GZU1	MCLN1_HUMAN	T	118	ENSP00000264079:A118T	ENSP00000264079:A118T	A	+	1	0	0	MCOLN1	7497439	7497439	1.000000	0.71417	0.119000	0.21687	0.983000	0.72400	7.659000	0.83766	2.572000	0.86782	0.655000	0.94253	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	1	0	1		2	2	2	0		0	0	132		132	128	1	2.060000	-20.000000	1	0.170000	NM_020533			108	104		549	533	1		1	1		0	0	132	0		1	9.999999e-01	0	18	0	100	0	108	549
MCOLN1	57192	broad.mit.edu	37	19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTGTGACGTTCGCCGCC	0.602																																						ENST00000264079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1426-1428)aCg>aTg		mucolipin 1							210.0	197.0	201.0					19																	7595239		2203	4300	6503	SO:0001583	missense	57192	0	0					g.chr19:7595239C>T	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.1427C>T	chr19.hg19:g.7595239C>T	ENSP00000264079:p.Thr476Met	0						p.T476M	NM_020533.2	NP_065394.1	1	2	3	2.010022	Q9GZU1	MCLN1_HUMAN		12	1552	+			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	1	1	hg19	c.1427C>T	CCDS12180.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457621	0.84317	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.87809	-2.3	5.29	5.29	0.74685	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	441;476	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	476;441	ENSP00000264079:T476M	ENSP00000264079:T476M	T	+	2	0	0	MCOLN1	7501239	7501239	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	1	0	0		2	2	2	0		0	0	246		246	243	1	2.060000	-20.000000	1	0.170000	NM_020533			288	285		1293	1269	1		1	1		0	0	246	0		1	1	0	25	0	123	0	288	1293
MCOLN1	57192	broad.mit.edu	37	19	7595335	7595335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595335T>C	ENST00000264079.6	+	12	1648	c.1523T>C	c.(1522-1524)aTg>aCg	p.M508T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	508					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCATCTACATGGTGCTCAGC	0.627																																						ENST00000264079.6	1.000000	0.080000	1.900000e-01	1.100000e-01	0.140000	0.215163	0.140000	0.140000																										0				18						c.(1522-1524)aTg>aCg		mucolipin 1							250.0	235.0	240.0					19																	7595335		2203	4300	6503	SO:0001583	missense	57192	0	0					g.chr19:7595335T>C	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.1523T>C	chr19.hg19:g.7595335T>C	ENSP00000264079:p.Met508Thr	0						p.M508T	NM_020533.2	NP_065394.1	1	2	3	2.010022	Q9GZU1	MCLN1_HUMAN		12	1648	+			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	0	1	hg19	c.1523T>C	CCDS12180.1	0	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025915	0.54683	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69926	-0.44	5.29	5.29	0.74685	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.71581	2.175	0.80722	D	1	B;P	0.36647	0.198;0.563	B;B	0.37989	0.234;0.262	T	0.68922	-0.5281	10	0.45353	T	0.12	.	13.1711	0.59599	0.0:0.0:0.0:1.0	.	473;508	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	508;473	ENSP00000264079:M508T	ENSP00000264079:M508T	M	+	2	0	0	MCOLN1	7501335	7501335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.005000	0.58758	0.460000	0.39030	ATG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	0		2	2	2	0		0	0	320		320	319	1	2.060000	-9.727126	1	0.170000	NM_020533			20	20		1679	1640	0		1	0		0	0	320	0		9.999934e-01	3.651752e-01	0	1	0	103	0	20	1679
MCOLN1	57192	broad.mit.edu	37	19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	511					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGTGCTCAGCCTCTTCATC	0.627																																						ENST00000264079.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1531-1533)aGc>aAc		mucolipin 1							239.0	224.0	229.0					19																	7595344		2203	4300	6503	SO:0001583	missense	57192	0	0					g.chr19:7595344G>A	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.1532G>A	chr19.hg19:g.7595344G>A	ENSP00000264079:p.Ser511Asn	0						p.S511N	NM_020533.2	NP_065394.1	1	2	3	2.010022	Q9GZU1	MCLN1_HUMAN		12	1657	+			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	1	1	hg19	c.1532G>A	CCDS12180.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497304	0.85069	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.64260	-0.09	5.29	5.29	0.74685	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.092272	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58583	1.82	0.58432	D	0.999999	P;P	0.50710	0.711;0.938	P;D	0.65233	0.747;0.933	T	0.65772	-0.6087	10	0.07325	T	0.83	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	476;511	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	N	511;476	ENSP00000264079:S511N	ENSP00000264079:S511N	S	+	2	0	0	MCOLN1	7501344	7501344	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.746000	0.68681	2.478000	0.83669	0.563000	0.77884	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	0		2	3	2	1		1	0	306		306	307	1	2.060000	-20.000000	1	0.170000	NM_020533			290	284		1330	1305	1		1	1		1	0	306	0		1	9.999950e-01	0	29	0	62	0	290	1330
PNPLA6	10908	broad.mit.edu	37	19	7606952	7606952	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S|PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	417					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)			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						GGGACATCTCAGGTTTGGAGC	0.602																																						ENST00000221249.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1132-1134)tcA>tcG		patatin-like phospholipase domain containing 6							40.0	39.0	40.0					19																	7606952		2203	4300	6503	SO:0001630	splice_region_variant	10908	0	0					g.chr19:7606952A>G	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.1135+1A>G	chr19.hg19:g.7606952A>G		0					PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S	p.S378S	NM_006702.4	NP_006693.3	1	2	3	2.010022	Q8IY17	PLPL6_HUMAN		13	1565	+			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Splice_Site	SNP	ENST00000221249.6	1	0	hg19	c.1134A>G	CCDS32891.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006702	Silent		58	57		238	237	1		1	0		0	0	48	0		1	9.999978e-01	0	0	0	82	0	58	238
PNPLA6	10908	broad.mit.edu	37	19	7615445	7615445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	663					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)			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						TGCTCAATGGGCGGCTGCGTA	0.687																																						ENST00000221249.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1870-1872)ggG>ggA		patatin-like phospholipase domain containing 6							54.0	44.0	47.0					19																	7615445		2203	4300	6503	SO:0001819	synonymous_variant	10908	0	0					g.chr19:7615445G>A	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.1872G>A	chr19.hg19:g.7615445G>A		0					PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000594864.1_3'UTR	p.G624G	NM_006702.4	NP_006693.3	1	2	3	2.010022	Q8IY17	PLPL6_HUMAN		19	2303	+			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	1	1	hg19	c.1872G>A	CCDS32891.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_006702			34	34		125	122	1		1	1		0	0	27	0		1	9.999997e-01	0	16	0	78	0	34	125
PNPLA6	10908	broad.mit.edu	37	19	7619930	7619930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	ENST00000221249.6	+	25	3103	c.2672G>T	c.(2671-2673)cGc>cTc	p.R891L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	930					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)			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						TGTCCGCGCCGCCTCTTTTCG	0.726																																						ENST00000221249.6	1.000000	0.720000	1	9.900000e-01	0.990000	0.976421	0.990000	1.000000																										0				35						c.(2671-2673)cGc>cTc		patatin-like phospholipase domain containing 6							8.0	9.0	9.0					19																	7619930		2170	4253	6423	SO:0001583	missense	10908	0	0					g.chr19:7619930G>T	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.2672G>T	chr19.hg19:g.7619930G>T	ENSP00000221249:p.Arg891Leu	0					PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L	p.R891L	NM_006702.4	NP_006693.3	1	2	3	2.010022	Q8IY17	PLPL6_HUMAN		25	3103	+			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	0	1	hg19	c.2672G>T	CCDS32891.1	1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.799649	0.90538	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.83953	2.67	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.899;0.997	D;D;P;P	0.97110	1.0;1.0;0.648;0.9	T	0.60031	-0.7342	10	0.59425	D	0.04	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	930;864;929;891	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	891;864;939;891	ENSP00000221249:R891L;ENSP00000443323:R864L;ENSP00000407509:R939L;ENSP00000394348:R891L	ENSP00000221249:R891L	R	+	2	0	0	PNPLA6	7525930	7525930	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.894000	0.87336	2.523000	0.85059	0.555000	0.69702	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-18.044640	1	0.170000	NM_006702			11	11		88	86	0		1	1		0	0	9	0		9.984887e-01	9.869918e-01	0	15	0	48	0	11	88
XAB2	56949	broad.mit.edu	37	19	7687518	7687518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	467				A -> V (in Ref. 2; AAF86951). {ECO:0000305}.	blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAAGTACTCGGCCCGGCGGG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.987462	0.990000	1.000000																										0				26						c.(1399-1401)gcC>gcT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							35.0	37.0	37.0					19																	7687518		2203	4299	6502	SO:0001819	synonymous_variant	56949	4	121366	36				g.chr19:7687518G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1401C>T	chr19.hg19:g.7687518G>A		0					XAB2_ENST00000534844.1_Silent_p.A464A	p.A467A	NM_020196.2	NP_064581.2	1	2	3	2.010022	Q9HCS7	SYF1_HUMAN		11	1438	-			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	1	1	hg19	c.1401C>T	CCDS32892.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1		2	2	2	0		0	0	65		65	62	1	2.060000	-20.000000	1	0.170000	NM_020196			38	38		350	349	1		1	1		0	0	65	0		1	9.999411e-01	0	17	0	119	0	38	350
XAB2	56949	broad.mit.edu	37	19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	432					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCTTGCCAGGTCATCCACC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4	1.000000	0.450000	1	6.100000e-01	0.810000	0.804281	0.810000	1.000000																										0				26						c.(1294-1296)Ctg>Atg	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							77.0	59.0	65.0					19																	7687725		2203	4300	6503	SO:0001583	missense	56949	0	0					g.chr19:7687725G>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1294C>A	chr19.hg19:g.7687725G>T	ENSP00000351137:p.Leu432Met	0					XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	p.L432M	NM_020196.2	NP_064581.2	1	2	3	2.010022	Q9HCS7	SYF1_HUMAN		10	1331	-			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	1	1	hg19	c.1294C>A	CCDS32892.1	0	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828483	0.71258	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.18960	2.18;2.18	5.36	2.88	0.33553	5.36	2.88	0.33553	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	T	0.51346	0.1669	M	0.92169	3.28	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.59857	-0.7375	10	0.87932	D	0	-22.9572	9.4517	0.38729	0.2587:0.0:0.7413:0.0	.	432	Q9HCS7	SYF1_HUMAN	M	432;429	ENSP00000351137:L432M;ENSP00000438225:L429M	ENSP00000351137:L432M	L	-	1	2	2	XAB2	7593725	7593725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.783000	0.55409	1.276000	0.44395	-0.140000	0.14226	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-16.963080	1	0.170000	NM_020196			13	13		185	183	1		1	1		0	0	39	0		9.995600e-01	9.952611e-01	0	16	0	115	0	13	185
XAB2	56949	broad.mit.edu	37	19	7693095	7693095	+	Silent	SNP	G	G	A	rs574034608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	XAB2_ENST00000534844.1_Silent_p.G44G|PET100_ENST00000601406.1_5'Flank|PET100_ENST00000594797.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000456958.3_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	47					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTTCGGGGCGCCCTGTTTGA	0.612								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.001					ENST00000358368.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(139-141)ggC>ggT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							83.0	74.0	77.0					19																	7693095		2202	4300	6502	SO:0001819	synonymous_variant	56949	2	121408	32				g.chr19:7693095G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.141C>T	chr19.hg19:g.7693095G>A		0					PET100_ENST00000601406.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.G44G|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank	p.G47G	NM_020196.2	NP_064581.2	1	2	3	2.010022	Q9HCS7	SYF1_HUMAN		2	178	-			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	1	1	hg19	c.141C>T	CCDS32892.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_020196			51	51		202	199	1		1	1		0	0	32	0		1	1	0	44	0	120	0	51	202
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					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)			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						AGCTGACCCCGTGTCCCCACT	0.607																																						ENST00000221283.5	1.000000	0.220000	6.200000e-01	3.200000e-01	0.440000	0.488882	0.440000	0.400000																										0				23						c.(718-720)Gtg>Atg		syntaxin binding protein 2							65.0	66.0	66.0					19																	7707143		2203	4300	6503	SO:0001583	missense	6813	2	121410	33				g.chr19:7707143G>A	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.718G>A	chr19.hg19:g.7707143G>A	ENSP00000221283:p.Val240Met	0					STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M|STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M	p.V240M	NM_006949.2	NP_008880.2	1	2	3	2.010022	Q15833	STXB2_HUMAN		9	749	+			B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	1	1	hg19	c.718G>A	CCDS12181.1	0	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	0	STXBP2	7613143	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-11.808020	1	0.170000	NM_006949			11	10		303	297	0		1	1		0	0	72	0		9.981969e-01	9.993946e-01	0	29	0	341	0	11	303
STXBP2	6813	broad.mit.edu	37	19	7707366	7707366	+	Silent	SNP	C	C	T	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000221283.5	+	10	877	c.846C>T	c.(844-846)gaC>gaT	p.D282D	STXBP2_ENST00000441779.2_Silent_p.D293D|STXBP2_ENST00000414284.2_Silent_p.D279D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	282					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)			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						TCTTGCTGGACGAGGACGATG	0.662													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		16550	0.0		0.0	False		,,,				2504	0.0					ENST00000221283.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(844-846)gaC>gaT		syntaxin binding protein 2		C	,	14,4392	21.2+/-45.6	0,14,2189	151.0	150.0	150.0		837,846	-6.6	0.2	19	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,	279/591,282/594	7707366	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6813	41	121412	51				g.chr19:7707366C>T	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.846C>T	chr19.hg19:g.7707366C>T		0					STXBP2_ENST00000414284.2_Silent_p.D279D|STXBP2_ENST00000441779.2_Silent_p.D293D	p.D282D	NM_006949.2	NP_008880.2	1	2	3	2.010022	Q15833	STXB2_HUMAN		10	877	+			B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	1	1	hg19	c.846C>T	CCDS12181.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	1	0	1		2	2	2	0		0	0	182		182	179	1	2.060000	-20.000000	1	0.170000	NM_006949			217	215		833	821	0		1	1		0	0	182	0		1	1	0	173	0	329	0	217	833
TRAPPC5	126003	broad.mit.edu	37	19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	154					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642																																						ENST00000317378.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998378	0.990000	1.000000																										0				3						c.(460-462)aGc>aAc		trafficking protein particle complex 5							26.0	30.0	29.0					19																	7747600		2182	4264	6446	SO:0001583	missense	126003	0	0					g.chr19:7747600G>A	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.461G>A	chr19.hg19:g.7747600G>A	ENSP00000316990:p.Ser154Asn	0					TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|CTD-3214H19.16_ENST00000597959.1_3'UTR	p.S154N	NM_174894.2	NP_777554.1	1	2	3	2.010022	Q8IUR0	TPPC5_HUMAN		2	648	+			A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	1	1	hg19	c.461G>A	CCDS42490.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041884	0.75732	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.43688	0.94;0.94	3.93	3.93	0.45458	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.57140	0.2033	M	0.85299	2.745	0.47511	D	0.99944	P	0.48640	0.913	P	0.49953	0.627	T	0.67405	-0.5679	10	0.72032	D	0.01	-10.8396	13.4726	0.61290	0.0:0.0:1.0:0.0	.	154	Q8IUR0	TPPC5_HUMAN	N	154	ENSP00000316990:S154N;ENSP00000399025:S154N	ENSP00000316990:S154N	S	+	2	0	0	TRAPPC5	7653600	7653600	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	1.767000	0.52121	0.306000	0.20318	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	XM_058961			19	19		120	120	1		1	1		0	0	27	0		9.999942e-01	1	0	161	0	422	0	19	120
CLEC4G	339390	broad.mit.edu	37	19	7796186	7796186	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7796186C>T	ENST00000328853.5	-	3	254	c.186G>A	c.(184-186)gcG>gcA	p.A62A	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	62						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCAAGCAGCGCCGCGCGCT	0.726																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5	1.000000	0.700000	1	9.900000e-01	0.990000	0.977516	0.990000	1.000000																										0				6						c.(184-186)gcG>gcA		C-type lectin domain family 4, member G							6.0	7.0	7.0					19																	7796186		2148	4211	6359	SO:0001819	synonymous_variant	339390	0	0					g.chr19:7796186C>T	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.186G>A	chr19.hg19:g.7796186C>T		0					CLEC4G_ENST00000598081.1_5'UTR	p.A62A	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	1	2	3	2.010022	Q6UXB4	CLC4G_HUMAN		3	254	-				Silent	SNP	ENST00000328853.5	0	1	hg19	c.186G>A	CCDS12185.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-14.169140	1	0.170000	NM_198492			7	7		47	46	0		1			0	0	10	0		9.818762e-01	0	0	0	0	0	0	7	47
CD209	30835	broad.mit.edu	37	19	7810795	7810795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	119	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCAGCTTAGATTTCT	0.562																																						ENST00000315599.7	1.000000	0.390000	6.700000e-01	4.600000e-01	0.550000	0.588845	0.550000	0.540000																										0				35						c.(355-357)aaG>aaA		CD209 molecule							98.0	101.0	100.0					19																	7810795		2203	4298	6501	SO:0001819	synonymous_variant	30835	1	121412	35				g.chr19:7810795C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.357G>A	chr19.hg19:g.7810795C>T		0					CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000394173.4_Intron	p.K119K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	1	2	3	2.010022	Q9NNX6	CD209_HUMAN		4	379	-			A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	1	1	hg19	c.357G>A	CCDS12186.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	1	0	0		2	2	2	0		0	0	203		203	0	1	2.060000	-5.360695	1	0.170000	NM_021155			41	0		854	0	0			0		0	0	203	0		0	3.987356e-02	0	0	0	7	0	41	854
CLEC4M	10332	broad.mit.edu	37	19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	301	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592																																						ENST00000327325.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(901-903)gCc>gTc		C-type lectin domain family 4, member M							85.0	78.0	81.0					19																	7831659		2203	4300	6503	SO:0001583	missense	10332	0	0					g.chr19:7831659C>T	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.902C>T	chr19.hg19:g.7831659C>T	ENSP00000316228:p.Ala301Val	0					CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V	p.A301V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	1	2	3	2.010022	Q9H2X3	CLC4M_HUMAN		5	1020	+			A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	1	1	hg19	c.902C>T	CCDS12187.1	1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130790	0.56828	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.94	2.57	2.57	0.30868	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.60418	0.2267	H	0.96015	3.755	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.999;0.997;0.952;0.999;0.999;0.994	T	0.51212	-0.8734	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	250;234;301;289;278;273;165;209	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	V	301;289;279;250;234;301;245	ENSP00000316228:A301V;ENSP00000377680:A289V;ENSP00000248228:A279V;ENSP00000335228:A250V;ENSP00000351954:A234V;ENSP00000349924:A301V	ENSP00000248228:A279V	A	+	2	0	0	CLEC4M	7737659	7737659	0.001000	0.12720	0.202000	0.23494	0.138000	0.21146	0.626000	0.24492	1.754000	0.51921	0.556000	0.70494	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_014257			91	89		367	355	1		1			0	0	96	0		1	0	0	0	0	0	0	91	367
LRRC8E	80131	broad.mit.edu	37	19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	171					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGAGGTATCCGGGGAGAACCA	0.627																																						ENST00000306708.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(511-513)Ggg>Agg		leucine rich repeat containing 8 family, member E							46.0	53.0	51.0					19																	7963918		2203	4300	6503	SO:0001583	missense	80131	3	121412	38				g.chr19:7963918G>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.511G>A	chr19.hg19:g.7963918G>A	ENSP00000306524:p.Gly171Arg	0					AC010336.1_ENST00000539278.1_3'UTR	p.G171R	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	1	2	3	2.010022	Q6NSJ5	LRC8E_HUMAN		3	612	+			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	1	1	hg19	c.511G>A	CCDS12189.1	1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405485	0.42715	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.42245	1.32	0.48571	D	0.999674	D	0.71674	0.998	P	0.60609	0.877	T	0.07790	-1.0754	10	0.52906	T	0.07	.	16.2508	0.82485	0.0:0.0:1.0:0.0	.	171	Q6NSJ5	LRC8E_HUMAN	R	171	ENSP00000306524:G171R	ENSP00000306524:G171R	G	+	1	0	0	LRRC8E	7869918	7869918	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	5.465000	0.66725	2.709000	0.92574	0.655000	0.94253	GGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-2.814880	1	0.170000	NM_025061			130	129		509	505	1		1	1		0	0	116	0		1	9.681869e-01	0	5	0	19	0	130	509
MAP2K7	5609	broad.mit.edu	37	19	7974947	7974947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000397979.3	+	3	320		c.e3-1		MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|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 neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATGTCCCCAGCATTGAGATT	0.622																																						ENST00000397979.3	1.000000	0.400000	1	6.600000e-01	0.990000	0.876379	0.990000	1.000000																										0				19						c.e3-1		mitogen-activated protein kinase kinase 7							25.0	28.0	27.0					19																	7974947		2037	4178	6215	SO:0001630	splice_region_variant	5609	0	0					g.chr19:7974947G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.267-1G>A	chr19.hg19:g.7974947G>A		0					MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site|CTD-3193O13.13_ENST00000595655.1_RNA		NM_145185.2	NP_660186.1	1	2	3	2.010022	O14733	MP2K7_HUMAN		3	320	+			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Splice_Site	SNP	ENST00000397979.3	0	1	hg19		CCDS42491.1	1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901762	0.52227	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.69	3.65	0.41850	4.69	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9413	0.47275	0.0938:0.0:0.9062:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAP2K7	7880947	7880947	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	3.565000	0.53798	1.118000	0.41863	0.561000	0.74099	.	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-9.914719	1	0.170000		Intron		5	5		56	55	0		1	0		0	0	17	0		9.375927e-01	0	0	0	0	1	0	5	56
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000397979.3	+	7	781	c.727G>A	c.(727-729)Gac>Aac	p.D243N	MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|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 neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATCCACCGCGACGTCAAGCC	0.632																																						ENST00000397979.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(727-729)Gac>Aac		mitogen-activated protein kinase kinase 7							39.0	44.0	42.0					19																	7975916		2132	4248	6380	SO:0001583	missense	5609	0	0					g.chr19:7975916G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.727G>A	chr19.hg19:g.7975916G>A	ENSP00000381066:p.Asp243Asn	0					MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|CTD-3193O13.13_ENST00000595655.1_RNA	p.D243N	NM_145185.2	NP_660186.1	1	2	3	2.010022	O14733	MP2K7_HUMAN		7	781	+			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	1	1	hg19	c.727G>A	CCDS42491.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.583767	0.96578	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.43	5.43	0.79202	5.43	5.43	0.79202	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	0.96907	0.8990	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	N	243;259;285;259;243	ENSP00000381068:D243N;ENSP00000381070:D259N;ENSP00000443946:D285N;ENSP00000381066:D243N	ENSP00000381066:D243N	D	+	1	0	0	MAP2K7	7881916	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.343406	1	0.170000				51	51		229	223	1		1	1		0	0	55	0		1	9.999993e-01	0	29	0	69	0	51	229
TIMM44	10469	broad.mit.edu	37	19	8003069	8003069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	ENST00000270538.3	-	3	423	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	52					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTTTCCAGAAGAATATGATTT	0.323																																						ENST00000270538.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(154-156)tCt>tTt		translocase of inner mitochondrial membrane 44 homolog (yeast)							60.0	58.0	59.0					19																	8003069		2201	4300	6501	SO:0001583	missense	10469	0	0					g.chr19:8003069G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.155C>T	chr19.hg19:g.8003069G>A	ENSP00000270538:p.Ser52Phe	0						p.S52F	NM_006351.3	NP_006342.2	1	2	3	2.010022	O43615	TIM44_HUMAN		3	423	-			A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	0	1	hg19	c.155C>T	CCDS12192.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299061	0.81025	.	.	ENSG00000104980	ENST00000270538	T	0.79845	-1.31	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.063727	0.64402	D	0.000003	D	0.89121	0.6625	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.89739	0.3932	10	0.51188	T	0.08	-10.6985	16.6135	0.84900	0.0:0.0:1.0:0.0	.	52	O43615	TIM44_HUMAN	F	52	ENSP00000270538:S52F	ENSP00000270538:S52F	S	-	2	0	0	TIMM44	7909069	7909069	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.356000	0.90085	2.531000	0.85337	0.650000	0.86243	TCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				55	54		267	259	0		1	1		0	0	41	0		1	9.999943e-01	0	30	0	59	0	55	267
ELAVL1	1994	broad.mit.edu	37	19	8032510	8032510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8032510G>A	ENST00000407627.2	-	5	724	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Silent_p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	199					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGTGGTACAGCTGCGAGAGG	0.582																																						ENST00000407627.2	1.000000	0.140000	5.200000e-01	2.200000e-01	0.340000	0.400746	0.340000	0.300000																										0				20						c.(595-597)Ctg>Ttg		ELAV like RNA binding protein 1							121.0	97.0	105.0					19																	8032510		2203	4300	6503	SO:0001819	synonymous_variant	1994	0	0					g.chr19:8032510G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.595C>T	chr19.hg19:g.8032510G>A		0					ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000596459.1_Silent_p.L199L|ELAVL1_ENST00000593807.1_Intron	p.L199L	NM_001419.2	NP_001410.2	1	2	3	2.010022	Q15717	ELAV1_HUMAN		5	724	-			B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	0	1	hg19	c.595C>T	CCDS12193.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	0	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-8.073613	1	0.170000	NM_001419			7	7		259	257	0		1	1		0	0	53	0		9.804725e-01	9.838397e-01	0	12	0	266	0	7	259
ELAVL1	1994	broad.mit.edu	37	19	8046064	8046064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	ENST00000407627.2	-	3	308	c.179G>T	c.(178-180)aGc>aTc	p.S60I	ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	60	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGCCCAAGCTGTGTCCTGT	0.527																																						ENST00000407627.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(178-180)aGc>aTc		ELAV like RNA binding protein 1							164.0	118.0	133.0					19																	8046064		2203	4300	6503	SO:0001583	missense	1994	0	0					g.chr19:8046064C>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.179G>T	chr19.hg19:g.8046064C>A	ENSP00000385269:p.Ser60Ile	0					ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I	p.S60I	NM_001419.2	NP_001410.2	1	2	3	2.010022	Q15717	ELAV1_HUMAN		3	308	-			B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	1	1	hg19	c.179G>T	CCDS12193.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.287602	0.95517	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.79247	-1.25;-1.25	5.78	5.78	0.91487	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.96301	3.8	0.80722	D	1	D	0.61697	0.99	P	0.61477	0.889	D	0.93571	0.6904	10	0.87932	D	0	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	60	Q15717	ELAV1_HUMAN	I	60;87	ENSP00000385269:S60I;ENSP00000264073:S87I	ENSP00000264073:S87I	S	-	2	0	0	ELAVL1	7952064	7952064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.225000	0.78051	2.719000	0.93026	0.655000	0.94253	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	0	0	0		16	11	2	1		1	1	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_001419			63	63		252	247	0		1	1		1	0	69	0		1	9.999986e-01	0	48	0	138	0	63	252
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612																																						ENST00000600128.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(6037-6039)cGg>cAg		fibrillin 3							42.0	43.0	43.0					19																	8155129		2203	4300	6503	SO:0001583	missense	84467	6	121396	36				g.chr19:8155129C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6038G>A	chr19.hg19:g.8155129C>T	ENSP00000470498:p.Arg2013Gln	0					FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q	p.R2013Q			1	2	3	2.010022	Q75N90	FBN3_HUMAN		49	6452	-			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	1	1	hg19	c.6038G>A	CCDS12196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761022|4.761022	0.89932|0.89932	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.87256	.|-2.23	4.58|4.58	3.53|3.53	0.40419|0.40419	4.58|4.58	3.53|3.53	0.40419|0.40419	.|Matrix fibril-associated (2);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.91885|0.91885	0.7431|0.7431	M|M	0.73217|0.73217	2.22|2.22	0.53005|0.53005	D|D	0.999969|0.999969	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	D|D	0.91842|0.91842	0.5484|0.5484	6|10	0.11794|0.62326	T|D	0.64|0.03	.|.	12.7286|12.7286	0.57185|0.57185	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|2013	.|Q75N90	.|FBN3_HUMAN	S|Q	133|2013	.|ENSP00000270509:R2013Q	ENSP00000341317:G133S|ENSP00000270509:R2013Q	G|R	-|-	1|2	0|0	0|0	FBN3|FBN3	8061129|8061129	8061129|8061129	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.945000|0.945000	0.59286|0.59286	5.547000|5.547000	0.67249|0.67249	0.908000|0.908000	0.36671|0.36671	0.561000|0.561000	0.74099|0.74099	GGC|CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_032447			42	42		193	186	1		1			0	0	44	0		1	0	0	0	0	0	0	42	193
FBN3	84467	broad.mit.edu	37	19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTACCCTGGCAGGCCCGGTG	0.667																																						ENST00000600128.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				132						c.(4204-4206)tGc>tAc		fibrillin 3							54.0	51.0	52.0					19																	8175947		2203	4300	6503	SO:0001583	missense	84467	0	0					g.chr19:8175947C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4205G>A	chr19.hg19:g.8175947C>T	ENSP00000470498:p.Cys1402Tyr	0					FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y	p.C1402Y			1	2	3	2.010022	Q75N90	FBN3_HUMAN		33	4619	-			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	1	1	hg19	c.4205G>A	CCDS12196.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770983	0.49680	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.67	3.67	0.42095	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99654	0.9872	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97366	0.9973	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	Y	1402	ENSP00000270509:C1402Y	ENSP00000270509:C1402Y	C	-	2	0	0	FBN3	8081947	8081947	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	7.091000	0.76923	1.758000	0.51981	0.462000	0.41574	TGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_032447			36	34		211	205	1		1			0	0	52	0		1	0	0	0	0	0	0	36	211
FBN3	84467	broad.mit.edu	37	19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000270509.2_Missense_Mutation_p.S392I|FBN3_ENST00000601739.1_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3	392						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCCAGGCTGGGGATCCC	0.612																																						ENST00000600128.1	1.000000	0.330000	1	5.100000e-01	0.750000	0.752056	0.750000	1.000000																										0				132						c.(1174-1176)aGc>aTc		fibrillin 3							15.0	19.0	18.0					19																	8203051		2194	4289	6483	SO:0001583	missense	84467	0	0					g.chr19:8203051C>A		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.1175G>T	chr19.hg19:g.8203051C>A	ENSP00000470498:p.Ser392Ile	0					FBN3_ENST00000601739.1_Missense_Mutation_p.S392I|FBN3_ENST00000270509.2_Missense_Mutation_p.S392I	p.S392I			1	2	3	2.010022	Q75N90	FBN3_HUMAN		10	1589	-			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	1	1	hg19	c.1175G>T	CCDS12196.1	0	.	.	.	.	.	.	.	.	.	.	c	9.180	1.023304	0.19433	.	.	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	4.45	3.41	0.39046	4.45	3.41	0.39046	.	0.731136	0.12732	U	0.443799	T	0.75228	0.3821	N	0.14661	0.345	0.20873	N	0.999833	B	0.26002	0.139	B	0.24541	0.054	T	0.61207	-0.7109	10	0.26408	T	0.33	.	9.4563	0.38756	0.0:0.898:0.0:0.102	.	392	Q75N90	FBN3_HUMAN	I	392	ENSP00000270509:S392I	ENSP00000270509:S392I	S	-	2	0	0	FBN3	8109051	8109051	0.966000	0.33281	0.952000	0.39060	0.717000	0.41224	0.760000	0.26475	0.864000	0.35578	-0.350000	0.07774	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-10.906110	1	0.170000	NM_032447			7	7		111	107	0		1			0	0	31	0		9.792288e-01	0	0	0	0	0	0	7	111
FBN3	84467	broad.mit.edu	37	19	8209804	8209804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000270509.2_Silent_p.R166R|FBN3_ENST00000601739.1_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3	166	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622																																						ENST00000600128.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				132						c.(496-498)cgC>cgT		fibrillin 3							52.0	40.0	44.0					19																	8209804		2202	4300	6502	SO:0001819	synonymous_variant	84467	1	121282	21				g.chr19:8209804G>A		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.498C>T	chr19.hg19:g.8209804G>A		0					FBN3_ENST00000601739.1_Silent_p.R166R|FBN3_ENST00000270509.2_Silent_p.R166R	p.R166R			1	2	3	2.010022	Q75N90	FBN3_HUMAN		6	912	-			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	1	1	hg19	c.498C>T	CCDS12196.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_032447			17	17		61	60	1		1			0	0	15	0		9.999820e-01	0	0	0	0	0	0	17	61
CD320	51293	broad.mit.edu	37	19	8367489	8367489	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	236	Poly-Ala.				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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTGAGCACCGCTGTGGGGAA	0.622																																						ENST00000301458.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(706-708)gCg>gTg		CD320 molecule							43.0	41.0	41.0					19																	8367489		2203	4300	6503	SO:0001630	splice_region_variant	51293	1	121408	34				g.chr19:8367489G>A	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.707-1C>T	chr19.hg19:g.8367489G>A		0					CD320_ENST00000537716.2_Splice_Site_p.A194V	p.A236V	NM_016579.3	NP_057663.1	1	2	3	2.010022	Q9NPF0	CD320_HUMAN		5	771	-			B2RDS5|D6W668|F5H6D3|Q53HF7	Splice_Site	SNP	ENST00000301458.5	1	0	hg19	c.707C>T	CCDS12198.1	1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362724	0.11296	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96856	-3.14;-4.15	4.04	-8.08	0.01094	4.04	-8.08	0.01094	.	1.298340	0.05497	N	0.557812	D	0.87581	0.6213	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.001	T	0.80025	-0.1555	10	0.13853	T	0.58	.	10.0455	0.42184	0.2222:0.1237:0.6542:0.0	.	194;236	F5H6D3;Q9NPF0	.;CD320_HUMAN	V	236;194	ENSP00000301458:A236V;ENSP00000437697:A194V	ENSP00000301458:A236V	A	-	2	0	0	CD320	8273489	8273489	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.128000	0.03247	-1.940000	0.01043	-1.127000	0.01993	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_016579	Missense_Mutation		62	60		250	243	1		1	1		0	0	70	0		1	1	0	24	0	164	0	62	250
NDUFA7	4701	broad.mit.edu	37	19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	57					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)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GCGGCCATCGCGAGTGCAATA	0.567																																						ENST00000301457.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(169-171)cGc>cAc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa							68.0	75.0	73.0					19																	8381461		2019	4175	6194	SO:0001583	missense	4701	0	0					g.chr19:8381461C>T	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.170G>A	chr19.hg19:g.8381461C>T	ENSP00000301457:p.Arg57His	0					NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	p.R57H	NM_005001.3	NP_004992.2	1	2	3	2.010022	O95182	NDUA7_HUMAN		3	207	-				Missense_Mutation	SNP	ENST00000301457.2	1	1	hg19	c.170G>A	CCDS42492.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201926	0.58234	.	.	ENSG00000167774	ENST00000301457	T	0.64803	-0.12	5.74	4.7	0.59300	5.74	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.76002	2.32	0.37902	D	0.931084	P	0.39624	0.681	B	0.36030	0.216	T	0.70371	-0.4890	10	0.59425	D	0.04	-14.0334	13.361	0.60657	0.0:0.9236:0.0:0.0764	.	57	O95182	NDUA7_HUMAN	H	57	ENSP00000301457:R57H	ENSP00000301457:R57H	R	-	2	0	0	NDUFA7	8287461	8287461	1.000000	0.71417	0.121000	0.21740	0.555000	0.35460	7.429000	0.80309	1.424000	0.47217	0.561000	0.74099	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_005001			95	91		412	405	1		1	1		0	0	77	0		1	1	0	277	0	493	0	95	412
RPS28	6234	broad.mit.edu	37	19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	41					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 small subunit biogenesis (GO:0042274)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										ACGAGCCGATCCATCATCCGC	0.642																																						ENST00000600659.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997346	0.990000	1.000000																										0										c.(121-123)tCc>tAc		ribosomal protein S28							17.0	17.0	17.0					19																	8386871		1911	4118	6029	SO:0001583	missense	6234	0	0					g.chr19:8386871C>A	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.122C>A	chr19.hg19:g.8386871C>A	ENSP00000472469:p.Ser41Tyr	0					NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	p.S41Y	NM_001031.4	NP_001022.1	1	2	3	2.010022	P62857	RS28_HUMAN		3	153	+			P25112	Missense_Mutation	SNP	ENST00000600659.2	0	1	hg19	c.122C>A	CCDS45953.1	1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794032	0.70452	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	B	0.30686	0.29	B	0.36244	0.22	T	0.51260	-0.8728	7	0.23302	T	0.38	.	17.5181	0.87780	0.0:1.0:0.0:0.0	.	41	P62857	RS28_HUMAN	Y	41	.	ENSP00000397872:S41Y	S	+	2	0	0	RPS28	8292871	8292871	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.649000	0.74364	2.720000	0.93068	0.655000	0.94253	TCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	1	0	0		2	2	2	0		0	0	17		17	14	1	2.060000	-19.977660	1	0.170000	NM_001031			12	10		65	44	1		1	1		0	0	17	0		9.954931e-01	1	0	1424	0	3368	0	12	65
MARCH2	51257	broad.mit.edu	37	19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T	rs562445340		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	11					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCACCTCCCCGGCTCCCTGTG	0.672																																						ENST00000602117.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(31-33)Ggc>Tgc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							46.0	47.0	47.0					19																	8486755		2203	4300	6503	SO:0001583	missense	51257	0	0					g.chr19:8486755G>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.31G>T	chr19.hg19:g.8486755G>T	ENSP00000471536:p.Gly11Cys	0					MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C	p.G11C			1	2	3	2.010022	Q9P0N8	MARH2_HUMAN		2	486	+			A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	1	1	hg19	c.31G>T	CCDS12202.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977229	0.92982	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12142	-1.0559	10	0.62326	D	0.03	-35.6497	18.284	0.90108	0.0:0.0:1.0:0.0	.	11;11	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	C	11	ENSP00000377518:G11C;ENSP00000215555:G11C;ENSP00000370423:G11C	ENSP00000215555:G11C	G	+	1	0	0	MARCH2	8392755	8392755	1.000000	0.71417	0.962000	0.40283	0.921000	0.55340	7.633000	0.83260	2.660000	0.90430	0.555000	0.69702	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_016496			59	58		334	324	1		1	1		0	0	70	0		1	1	0	34	0	139	0	59	334
MARCH2	51257	broad.mit.edu	37	19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	171					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCACAGCCAGCTGGAG	0.637																																						ENST00000602117.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(511-513)aGc>aAc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							79.0	60.0	66.0					19																	8495681		2202	4300	6502	SO:0001583	missense	51257	0	0					g.chr19:8495681G>A	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.512G>A	chr19.hg19:g.8495681G>A	ENSP00000471536:p.Ser171Asn	0					MARCH2_ENST00000381035.4_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N	p.S171N			1	2	3	2.010022	Q9P0N8	MARH2_HUMAN		4	967	+			A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	1	1	hg19	c.512G>A	CCDS12202.1	1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988397	0.53934	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18960	2.18;2.18	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.204126	0.49305	D	0.000147	T	0.27559	0.0677	M	0.68952	2.095	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.07366	-1.0776	10	0.22706	T	0.39	-29.9527	15.7466	0.77949	0.0:0.0:1.0:0.0	.	171	Q9P0N8	MARH2_HUMAN	N	171	ENSP00000377518:S171N;ENSP00000215555:S171N	ENSP00000215555:S171N	S	+	2	0	0	MARCH2	8401681	8401681	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.745000	0.85046	2.364000	0.80123	0.448000	0.29417	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_016496			42	41		203	199	1		1	1		0	0	31	0		1	1	0	45	0	193	0	42	203
HNRNPM	4670	broad.mit.edu	37	19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000325495.4	+	5	424	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A128D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	128	RRM 1. {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)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATGAAAAAAGCTGCGGAAGTC	0.413																																						ENST00000325495.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(382-384)gCt>gAt		heterogeneous nuclear ribonucleoprotein M							148.0	123.0	131.0					19																	8528515		2203	4300	6503	SO:0001583	missense	4670	0	0					g.chr19:8528515C>A	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.383C>A	chr19.hg19:g.8528515C>A	ENSP00000325376:p.Ala128Asp	0					HNRNPM_ENST00000348943.3_Missense_Mutation_p.A128D	p.A128D	NM_005968.4	NP_005959.2	1	2	3	2.010022	P52272	HNRPM_HUMAN		5	424	+			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	1	1	hg19	c.383C>A	CCDS12203.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248285	0.80024	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.88354	-2.37;1.16	6.17	6.17	0.99709	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.97090	0.9790	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	128;128;128;28	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	D	128;128;28	ENSP00000325376:A128D;ENSP00000325732:A128D	ENSP00000325376:A128D	A	+	2	0	0	HNRNPM	8434515	8434515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				74	73		281	275	1		1	1		0	0	49	0		1	1	0	294	0	601	0	74	281
HNRNPM	4670	broad.mit.edu	37	19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000325495.4	+	13	1177	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A340V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	379					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)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTAAGTAATGCACTGAAGAGA	0.388																																						ENST00000325495.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999443	0.990000	1.000000																										0				25						c.(1135-1137)gCa>gTa		heterogeneous nuclear ribonucleoprotein M							172.0	166.0	168.0					19																	8548057		2203	4300	6503	SO:0001583	missense	4670	0	0					g.chr19:8548057C>T	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.1136C>T	chr19.hg19:g.8548057C>T	ENSP00000325376:p.Ala379Val	0					HNRNPM_ENST00000348943.3_Missense_Mutation_p.A340V	p.A379V	NM_005968.4	NP_005959.2	1	2	3	2.010022	P52272	HNRPM_HUMAN		13	1177	+			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	1	1	hg19	c.1136C>T	CCDS12203.1	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528391	0.44969	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14893	2.47;2.77	4.54	4.54	0.55810	4.54	4.54	0.55810	.	0.531586	0.20813	N	0.085208	T	0.14527	0.0351	L	0.34521	1.04	0.39913	D	0.974059	B;B;B;B	0.21905	0.062;0.018;0.034;0.008	B;B;B;B	0.21708	0.036;0.011;0.036;0.011	T	0.04281	-1.0963	10	0.40728	T	0.16	.	13.1032	0.59233	0.0:1.0:0.0:0.0	.	219;379;340;264	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	379;340;264	ENSP00000325376:A379V;ENSP00000325732:A340V	ENSP00000325376:A379V	A	+	2	0	0	HNRNPM	8454057	8454057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.822000	0.97130	0.650000	0.86243	GCA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-16.726530	1	0.170000				40	40		290	289	1		1	1		0	0	77	0		1	1	0	101	0	335	0	40	290
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000325495.4	+	14	1612	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697																																						ENST00000325495.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R524H(1)	lung(1)	25						c.(1570-1572)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550883		2202	4298	6500	SO:0001583	missense	4670	0	0					g.chr19:8550883G>A	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.1571G>A	chr19.hg19:g.8550883G>A	ENSP00000325376:p.Arg524His	0					HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	p.R524H	NM_005968.4	NP_005959.2	1	2	3	2.010022	P52272	HNRPM_HUMAN		14	1612	+			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	1	1	hg19	c.1571G>A	CCDS12203.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	0	HNRNPM	8456883	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	0		2	2	2	0		0	0	105		105	101	1	2.060000	-3.503817	1	0.170000				113	110		473	467	1		1	1		0	0	105	0		1	1	0	107	0	197	0	113	473
HNRNPM	4670	broad.mit.edu	37	19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000325495.4	+	14	1632	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492C	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCATGGAGCGCATGGTGCC	0.687																																						ENST00000325495.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1591-1593)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550903		2203	4297	6500	SO:0001583	missense	4670	0	0					g.chr19:8550903C>T	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.1591C>T	chr19.hg19:g.8550903C>T	ENSP00000325376:p.Arg531Cys	0					HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492C	p.R531C	NM_005968.4	NP_005959.2	1	2	3	2.010022	P52272	HNRPM_HUMAN		14	1632	+			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	1	1	hg19	c.1591C>T	CCDS12203.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846507	0.51164	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.78;1.65	5.62	4.57	0.56435	5.62	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.20671	0.014;0.006;0.004;0.047	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.05209	-1.0899	10	0.87932	D	0	.	14.4855	0.67614	0.1483:0.8517:0.0:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	C	531;492;416;88	ENSP00000325376:R531C;ENSP00000325732:R492C	ENSP00000325376:R531C	R	+	1	0	0	HNRNPM	8456903	8456903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.450000	0.66626	1.333000	0.45449	0.591000	0.81541	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000				100	100		476	471	1		1	1		0	0	101	0		1	1	0	108	0	222	0	100	476
HNRNPM	4670	broad.mit.edu	37	19	8551214	8551214	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000325495.4	+	14	1943	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	HNRNPM_ENST00000348943.3_Silent_p.F595F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	634					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)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCTTCGCAGGTTCCT	0.602																																						ENST00000325495.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.987241	0.990000	1.000000																										0				25						c.(1900-1902)ttC>ttT		heterogeneous nuclear ribonucleoprotein M							42.0	45.0	44.0					19																	8551214		2203	4300	6503	SO:0001819	synonymous_variant	4670	11	120784	40				g.chr19:8551214C>T	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.1902C>T	chr19.hg19:g.8551214C>T		0					HNRNPM_ENST00000348943.3_Silent_p.F595F	p.F634F	NM_005968.4	NP_005959.2	1	2	3	2.010022	P52272	HNRPM_HUMAN		14	1943	+			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	1	1	hg19	c.1902C>T	CCDS12203.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				34	34		309	305	0		1	1		0	0	40	0		1	1	0	55	0	380	0	34	309
ZNF414	84330	broad.mit.edu	37	19	8578036	8578036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	ENST00000255616.8	-	2	294	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.Q65*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	65			Q -> R (in dbSNP:rs8100431). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GAGCCCTGCTGCATCCCTCCA	0.706																																						ENST00000255616.8	1.000000	0.750000	1	9.900000e-01	0.990000	0.984301	0.990000	1.000000																										0				2						c.(193-195)Cag>Tag		zinc finger protein 414							8.0	8.0	8.0					19																	8578036		2155	4209	6364	SO:0001587	stop_gained	84330	1	114290	28				g.chr19:8578036G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.193C>T	chr19.hg19:g.8578036G>A	ENSP00000255616:p.Gln65*	0					ZNF414_ENST00000393927.4_Nonsense_Mutation_p.Q65*	p.Q65*	NM_032370.2	NP_115746.2	1	2	3	2.010022	Q96IQ9	ZN414_HUMAN		2	294	-			A8MY94	Nonsense_Mutation	SNP	ENST00000255616.8	0	1	hg19	c.193C>T	CCDS12205.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424835	0.62733	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.13	3.09	0.35607	4.13	3.09	0.35607	.	0.000000	0.33438	N	0.004910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.8746	7.6881	0.28552	0.117:0.0:0.883:0.0	.	.	.	.	X	65	.	ENSP00000255616:Q65X	Q	-	1	0	0	ZNF414	8484036	8484036	0.964000	0.33143	0.366000	0.25914	0.319000	0.28217	2.193000	0.42658	1.079000	0.41038	0.655000	0.94253	CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-12.400660	1	0.170000	NM_032370			5	5		23	23	1		1	1		0	0	11	0		9.437892e-01	9.966262e-01	0	4	0	60	0	5	23
MYO1F	4542	broad.mit.edu	37	19	8595095	8595095	+	Silent	SNP	G	G	A	rs374767520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	771	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652																																						ENST00000338257.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2311-2313)taC>taT		myosin IF		G		0,4320		0,0,2160	67.0	78.0	74.0		2313	-3.2	1.0	19		74	6,8438		0,6,4216	no	coding-synonymous	MYO1F	NM_012335.3		0,6,6376	AA,AG,GG		0.0711,0.0,0.047		771/1099	8595095	6,12758	2160	4222	6382	SO:0001819	synonymous_variant	4542	44	121144	50				g.chr19:8595095G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2313C>T	chr19.hg19:g.8595095G>A		0						p.Y771Y	NM_012335.3	NP_036467.2	1	2	3	2.010022	O00160	MYO1F_HUMAN		21	2580	-			Q8WWN7	Silent	SNP	ENST00000338257.8	1	1	hg19	c.2313C>T	CCDS42494.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	1	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-3.496534	1	0.170000				156	154		666	653	1		1	0		0	0	135	0		1	9.999661e-01	0	0	0	64	0	156	666
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F398F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542																																						ENST00000338257.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F398F(1)	large_intestine(1)	42						c.(1192-1194)ttC>ttT		myosin IF							147.0	143.0	144.0					19																	8612995		1933	4142	6075	SO:0001819	synonymous_variant	4542	2	120882	38				g.chr19:8612995G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1194C>T	chr19.hg19:g.8612995G>A		0					AC092316.1_ENST00000598703.1_RNA|AC092316.2_ENST00000581156.1_RNA	p.F398F	NM_012335.3	NP_036467.2	1	2	3	2.010022	O00160	MYO1F_HUMAN		12	1461	-			Q8WWN7	Silent	SNP	ENST00000338257.8	1	1	hg19	c.1194C>T	CCDS42494.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	1	0	1		2	2	2	0		0	0	170		170	168	1	2.060000	-3.241786	1	0.170000				193	189		884	866	0		1	0		0	0	170	0		1	9.999676e-01	0	1	0	67	0	193	884
MYO1F	4542	broad.mit.edu	37	19	8619390	8619390	+	Silent	SNP	G	G	A	rs201539438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	99	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19452	0.0		0.001	False		,,,				2504	0.0					ENST00000338257.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(295-297)atC>atT		myosin IF							133.0	134.0	133.0					19																	8619390		2036	4180	6216	SO:0001819	synonymous_variant	4542	3	120998	37				g.chr19:8619390G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.297C>T	chr19.hg19:g.8619390G>A		0						p.I99I	NM_012335.3	NP_036467.2	1	2	3	2.010022	O00160	MYO1F_HUMAN		4	564	-			Q8WWN7	Silent	SNP	ENST00000338257.8	1	1	hg19	c.297C>T	CCDS42494.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	0	0	1		19	4	2	1		1	1	123		123	122	1	2.060000	-20.000000	1	0.170000				133	132		571	563	1		1	0		1	0	123	0		1	9.995993e-01	0	0	0	72	0	133	571
ACTL9	284382	broad.mit.edu	37	19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCAGGCCGGCCTGGAGCAG	0.657																																						ENST00000324436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(715-717)gCc>gTc		actin-like 9							36.0	36.0	36.0					19																	8808336		2203	4300	6503	SO:0001583	missense	284382	0	0					g.chr19:8808336G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.716C>T	chr19.hg19:g.8808336G>A	ENSP00000316674:p.Ala239Val	0						p.A239V	NM_178525.3	NP_848620.3	1	2	3	2.010022	Q8TC94	ACTL9_HUMAN		1	836	-			A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	1	1	hg19	c.716C>T	CCDS12207.1	1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110203	0.20714	.	.	ENSG00000181786	ENST00000324436	D	0.94417	-3.42	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.832480	0.09655	U	0.773177	D	0.91123	0.7205	L	0.42744	1.35	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.82476	-0.0438	10	0.87932	D	0	.	7.3774	0.26835	0.1773:0.0:0.8227:0.0	.	239	Q8TC94	ACTL9_HUMAN	V	239	ENSP00000316674:A239V	ENSP00000316674:A239V	A	-	2	0	0	ACTL9	8669336	8669336	0.001000	0.12720	0.029000	0.17559	0.010000	0.07245	1.389000	0.34453	2.649000	0.89929	0.462000	0.41574	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	0		2	2	2	0		0	0	52		52	49	1	2.060000	-20.000000	1	0.170000	NM_178525			54	54		231	229	1		1			0	0	52	0		1	0	0	0	0	0	0	54	231
ACTL9	284382	broad.mit.edu	37	19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A	rs372877504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCATCTCCGCCAGGAAGGC	0.642																																						ENST00000324436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(697-699)gCg>gTg		actin-like 9		T	VAL/ALA	0,4406		0,0,2203	37.0	37.0	37.0		698	2.4	0.6	19		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL9	NM_178525.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	233/417	8808354	1,13005	2203	4300	6503	SO:0001583	missense	284382	0	0					g.chr19:8808354G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.698C>T	chr19.hg19:g.8808354G>A	ENSP00000316674:p.Ala233Val	0						p.A233V	NM_178525.3	NP_848620.3	1	2	3	2.010022	Q8TC94	ACTL9_HUMAN		1	818	-			A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	1	1	hg19	c.698C>T	CCDS12207.1	1	.	.	.	.	.	.	.	.	.	.	g	9.926	1.213504	0.22289	0.0	1.16E-4	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	2.42	0.29668	4.55	2.42	0.29668	.	0.160511	0.29126	N	0.013065	T	0.06096	0.0158	L	0.33624	1.015	0.25170	N	0.990285	B	0.24721	0.11	B	0.24269	0.052	T	0.29549	-1.0008	10	0.72032	D	0.01	.	4.2869	0.10858	0.1871:0.0:0.6302:0.1827	.	233	Q8TC94	ACTL9_HUMAN	V	233	ENSP00000316674:A233V	ENSP00000316674:A233V	A	-	2	0	0	ACTL9	8669354	8669354	0.988000	0.35896	0.619000	0.29118	0.075000	0.17131	3.158000	0.50723	0.676000	0.31285	-0.358000	0.07595	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	0		2	2	2	0		0	0	49		49	46	1	2.060000	-20.000000	1	0.170000	NM_178525			61	61		222	221	1		1			0	0	49	0		1	0	0	0	0	0	0	61	222
ACTL9	284382	broad.mit.edu	37	19	8808399	8808399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808399G>A	ENST00000324436.3	-	1	773	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	218						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGACGCTCCGTGGCGTGGAG	0.682																																						ENST00000324436.3	1.000000	0.110000	4.100000e-01	1.700000e-01	0.260000	0.331782	0.260000	0.240000																										0				36						c.(652-654)aCg>aTg		actin-like 9							45.0	43.0	44.0					19																	8808399		2203	4299	6502	SO:0001583	missense	284382	0	0					g.chr19:8808399G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.653C>T	chr19.hg19:g.8808399G>A	ENSP00000316674:p.Thr218Met	0						p.T218M	NM_178525.3	NP_848620.3	1	2	3	2.010022	Q8TC94	ACTL9_HUMAN		1	773	-			A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	0	1	hg19	c.653C>T	CCDS12207.1	0	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173331	0.38413	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.55	3.32	0.38043	4.55	3.32	0.38043	.	0.481200	0.17329	N	0.178213	D	0.93177	0.7827	L	0.54965	1.715	0.25461	N	0.987911	D	0.60575	0.988	P	0.50934	0.654	D	0.86983	0.2105	10	0.87932	D	0	.	6.5417	0.22385	0.2932:0.0:0.7068:0.0	.	218	Q8TC94	ACTL9_HUMAN	M	218	ENSP00000316674:T218M	ENSP00000316674:T218M	T	-	2	0	0	ACTL9	8669399	8669399	0.463000	0.25799	0.842000	0.33263	0.863000	0.49368	1.042000	0.30303	0.920000	0.36970	0.462000	0.41574	ACG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	0	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-7.409843	1	0.170000	NM_178525			7	7		334	332	0		1			0	0	54	0		9.804711e-01	0	0	0	0	0	0	7	334
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667																																						ENST00000324436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(622-624)Gtc>Atc		actin-like 9							49.0	46.0	47.0					19																	8808430		2203	4300	6503	SO:0001583	missense	284382	2	121368	37				g.chr19:8808430C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.622G>A	chr19.hg19:g.8808430C>T	ENSP00000316674:p.Val208Ile	0						p.V208I	NM_178525.3	NP_848620.3	1	2	3	2.010022	Q8TC94	ACTL9_HUMAN		1	742	-			A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	1	1	hg19	c.622G>A	CCDS12207.1	1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	0	ACTL9	8669430	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_178525			64	64		265	264	1		1			0	0	53	0		1	0	0	0	0	0	0	64	265
ACTL9	284382	broad.mit.edu	37	19	8808659	8808659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	131						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCAGCAGGTGGCGCCAGA	0.697																																						ENST00000324436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(391-393)caC>caT		actin-like 9							32.0	38.0	36.0					19																	8808659		2201	4295	6496	SO:0001819	synonymous_variant	284382	0	0					g.chr19:8808659G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.393C>T	chr19.hg19:g.8808659G>A		0						p.H131H	NM_178525.3	NP_848620.3	1	2	3	2.010022	Q8TC94	ACTL9_HUMAN		1	513	-			A8K893|Q6X960	Silent	SNP	ENST00000324436.3	1	1	hg19	c.393C>T	CCDS12207.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_178525			72	71		288	282	1		1			0	0	78	0		1	0	0	0	0	0	0	72	288
OR2Z1	284383	broad.mit.edu	37	19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTGTCATAGGCCTTCTGGGC	0.542																																						ENST00000324060.2	1.000000	0.360000	7.500000e-01	4.600000e-01	0.580000	0.615490	0.580000	0.560000																										0				18						c.(112-114)gGc>gAc		olfactory receptor, family 2, subfamily Z, member 1							145.0	123.0	130.0					19																	8841503		2203	4300	6503	SO:0001583	missense	284383	0	0					g.chr19:8841503G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.113G>A	chr19.hg19:g.8841503G>A	ENSP00000316284:p.Gly38Asp	0						p.G38D	NM_001004699.1	NP_001004699.1	1	2	3	2.010022	Q8NG97	OR2Z1_HUMAN		1	188	+			B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	1	1	hg19	c.113G>A	CCDS32895.1	0	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974594	0.53720	.	.	ENSG00000181733	ENST00000324060	T	0.01092	5.35	4.33	3.16	0.36331	4.33	3.16	0.36331	.	0.369647	0.22845	N	0.054923	T	0.02380	0.0073	L	0.52905	1.665	0.09310	N	1	P	0.50617	0.937	P	0.49561	0.615	T	0.38308	-0.9667	10	0.87932	D	0	.	10.1776	0.42948	0.0:0.3736:0.6264:0.0	.	38	Q8NG97	OR2Z1_HUMAN	D	38	ENSP00000316284:G38D	ENSP00000316284:G38D	G	+	2	0	0	OR2Z1	8702503	8702503	0.263000	0.24083	0.040000	0.18447	0.014000	0.08584	1.834000	0.39171	2.182000	0.69389	0.543000	0.68304	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1	1	0	0		2	2	2	0		0	0	80		80	78	1	2.060000	-19.985780	1	0.170000				21	21		421	409	0		1			0	0	80	0		9.999969e-01	0	0	0	0	0	0	21	421
OR2Z1	284383	broad.mit.edu	37	19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAAGCATGCGCTCAGAGGAG	0.587																																						ENST00000324060.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(685-687)cGc>cAc		olfactory receptor, family 2, subfamily Z, member 1							113.0	90.0	98.0					19																	8842076		2203	4300	6503	SO:0001583	missense	284383	1	121412	31				g.chr19:8842076G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.686G>A	chr19.hg19:g.8842076G>A	ENSP00000316284:p.Arg229His	0						p.R229H	NM_001004699.1	NP_001004699.1	1	2	3	2.010022	Q8NG97	OR2Z1_HUMAN		1	761	+			B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	1	1	hg19	c.686G>A	CCDS32895.1	1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813852	0.02798	.	.	ENSG00000181733	ENST00000324060	T	0.39229	1.09	4.67	-2.35	0.06684	4.67	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.737439	0.12441	N	0.468674	T	0.13329	0.0323	N	0.02225	-0.63	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30327	-0.9982	10	0.15499	T	0.54	.	4.9972	0.14245	0.5627:0.1712:0.2661:0.0	.	229	Q8NG97	OR2Z1_HUMAN	H	229	ENSP00000316284:R229H	ENSP00000316284:R229H	R	+	2	0	0	OR2Z1	8703076	8703076	0.000000	0.05858	0.847000	0.33407	0.021000	0.10359	-0.920000	0.04013	-0.100000	0.12241	-0.287000	0.09952	CGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.426880	1	0.170000				70	69		294	294	1		1			0	0	82	0		1	0	0	0	0	0	0	70	294
ZNF558	148156	broad.mit.edu	37	19	8931980	8931980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_ENST00000301475.1_Silent_p.G41G|ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000599938.1_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA			Q96NG5	ZN558_HUMAN	zinc finger protein 558	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587																																						ENST00000601372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(121-123)ggC>ggT		zinc finger protein 558							154.0	136.0	142.0					19																	8931980		2203	4300	6503	SO:0001819	synonymous_variant	148156	0	0					g.chr19:8931980G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.123C>T	chr19.hg19:g.8931980G>A		0					CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Silent_p.G41G	p.G41G			1	2	3	2.010022	Q96NG5	ZN558_HUMAN		7	834	-			A8K5F0|B7Z798	Silent	SNP	ENST00000601372.1	1	1	hg19	c.123C>T	CCDS12208.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	1	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-20.000000	1	0.170000	NM_144693			100	95		370	364	1		1	1		0	0	121	0		1	9.999887e-01	0	22	0	41	0	100	370
MBD3L1	85509	broad.mit.edu	37	19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	55	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512																																						ENST00000595891.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(163-165)tgG>tgT		methyl-CpG binding domain protein 3-like 1							101.0	93.0	96.0					19																	8953519		2203	4300	6503	SO:0001583	missense	85509	0	0					g.chr19:8953519G>T	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.165G>T	chr19.hg19:g.8953519G>T	ENSP00000471575:p.Trp55Cys	0					MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C	p.W55C			1	2	3	2.010022	Q8WWY6	MB3L1_HUMAN		3	396	+			B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	1	1	hg19	c.165G>T	CCDS12209.1	1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387116	0.42308	.	.	ENSG00000170948	ENST00000305625	T	0.42900	0.96	3.92	3.92	0.45320	3.92	3.92	0.45320	.	0.000000	0.30850	N	0.008744	T	0.56352	0.1979	M	0.65975	2.015	0.48341	D	0.999633	D	0.76494	0.999	P	0.61800	0.894	T	0.58399	-0.7643	10	0.54805	T	0.06	-13.1406	11.7393	0.51784	0.0:0.0:1.0:0.0	.	55	Q8WWY6	MB3L1_HUMAN	C	55	ENSP00000304198:W55C	ENSP00000304198:W55C	W	+	3	0	0	MBD3L1	8814519	8814519	1.000000	0.71417	0.958000	0.39756	0.543000	0.35085	3.640000	0.54350	2.459000	0.83118	0.655000	0.94253	TGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-2.929333	1	0.170000	NM_145208			69	63		313	310	1		1			0	0	71	0		1	0	0	0	0	0	0	69	313
MUC16	94025	broad.mit.edu	37	19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.L868M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14290				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)				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						ATGTCCCTCAGCAGGGTGATG	0.502																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999845	0.990000	1.000000																										0				590						c.(42679-42681)Ctg>Atg		mucin 16, cell surface associated							106.0	109.0	108.0					19																	8973992		1982	4158	6140	SO:0001583	missense	94025	0	0					g.chr19:8973992G>T	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.42679C>A	chr19.hg19:g.8973992G>T	ENSP00000381008:p.Leu14227Met	0					MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	p.L14227M	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		76	42882	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.42679C>A	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.859|8.859	0.946373|0.946373	0.18356|0.18356	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	0.89|0.89	0.19218|0.19218	4.57|4.57	0.89|0.89	0.19218|0.19218	.|SEA (1);	.|1.613830	.|0.04579	.|N	.|0.394628	.|T	.|0.57533	.|0.2060	M|M	0.85542|0.85542	2.76|2.76	.|.	.|.	.|.	.|B;D	.|0.58970	.|0.245;0.984	.|B;D	.|0.73708	.|0.126;0.981	.|T	.|0.40403	.|-0.9565	.|9	.|0.34782	.|T	.|0.22	.|.	7.68|7.68	0.28507|0.28507	0.0:0.3544:0.4759:0.1697|0.0:0.3544:0.4759:0.1697	.|.	.|21872;14227	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	X|M	1049|14227;868	.|ENSP00000381008:L14227M;ENSP00000370338:L868M	.|ENSP00000370338:L868M	C|L	-|-	3|1	2|2	2|2	MUC16|MUC16	8834992|8834992	8834992|8834992	0.000000|0.000000	0.05858|0.05858	0.272000|0.272000	0.24630|0.24630	0.054000|0.054000	0.15201|0.15201	-0.019000|-0.019000	0.12546|0.12546	0.190000|0.190000	0.20209|0.20209	0.609000|0.609000	0.83330|0.83330	TGC|CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_024690			15	15		58	57	1		1	1		0	0	13	0		9.999236e-01	9.999825e-01	0	12	0	73	0	15	58
MUC16	94025	broad.mit.edu	37	19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.R840W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14244	SEA 14. {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)				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						TACTCGCCCCGGATTGATAAA	0.478																																						ENST00000397910.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.987164	0.990000	1.000000																										0				590						c.(42595-42597)Cgg>Tgg		mucin 16, cell surface associated							93.0	88.0	90.0					19																	8974076		1884	4115	5999	SO:0001583	missense	94025	1	120846	20				g.chr19:8974076G>A	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.42595C>T	chr19.hg19:g.8974076G>A	ENSP00000381008:p.Arg14199Trp	0					MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	p.R14199W	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		76	42798	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.42595C>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771491	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01981	4.52	4.64	-3.0	0.05480	4.64	-3.0	0.05480	.	2.408930	0.02423	N	0.082720	T	0.04861	0.0131	M	0.78637	2.42	.	.	.	B;P	0.41643	0.002;0.758	B;B	0.38954	0.002;0.286	T	0.47522	-0.9111	9	0.51188	T	0.08	.	8.8916	0.35437	0.5282:0.0:0.4718:0.0	.	21844;14199	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14199;840	ENSP00000381008:R14199W	ENSP00000370338:R840W	R	-	1	2	2	MUC16	8835076	8835076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	-0.452000	0.07087	-0.766000	0.03442	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-7.931931	1	0.170000	NM_024690			10	10		68	66	1		1	1		0	0	26	0		9.971549e-01	9.975151e-01	0	13	0	65	0	10	68
MUC16	94025	broad.mit.edu	37	19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14043	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)				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						CATGGGTCTGCTGGCTCAGCT	0.622																																						ENST00000397910.4	1.000000	0.510000	1	6.600000e-01	0.850000	0.841046	0.850000	1.000000																										0				590						c.(42052-42054)caG>caT		mucin 16, cell surface associated							52.0	56.0	54.0					19																	8982221		2031	4177	6208	SO:0001583	missense	94025	0	0					g.chr19:8982221C>A	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.42054G>T	chr19.hg19:g.8982221C>A	ENSP00000381008:p.Gln14018His	0					MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	p.Q14018H	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		70	42257	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.42054G>T	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857870|0.857870	0.17178|0.17178	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.47869|.	0.83;0.83|.	3.89|3.89	1.58|1.58	0.23477|0.23477	3.89|3.89	1.58|1.58	0.23477|0.23477	SEA (1);|.	2.222600|.	0.02344|.	N|.	0.075212|.	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.41415|0.41415	1.275|1.275	.|.	.|.	.|.	B;D|.	0.53312|.	0.016;0.959|.	B;D|.	0.67725|.	0.006;0.953|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|4	0.37606|.	T|.	0.19|.	.|.	3.9472|3.9472	0.09353|0.09353	0.226:0.6371:0.0:0.1369|0.226:0.6371:0.0:0.1369	.|.	21663;14018|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14018;659|858	ENSP00000381008:Q14018H;ENSP00000370338:Q659H|.	ENSP00000370338:Q659H|.	Q|S	-|-	3|2	2|0	2|0	MUC16|MUC16	8843221|8843221	8843221|8843221	0.243000|0.243000	0.23878|0.23878	0.635000|0.635000	0.29338|0.29338	0.009000|0.009000	0.06853|0.06853	0.278000|0.278000	0.18753|0.18753	0.510000|0.510000	0.28216|0.28216	-0.291000|-0.291000	0.09656|0.09656	CAG|AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.966110	1	0.170000	NM_024690			17	17		226	222	1		1	1		0	0	37	0		9.999659e-01	9.490254e-01	0	8	0	61	0	17	226
MUC16	94025	broad.mit.edu	37	19	8995635	8995635	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13787				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)				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						TGGTACTTACCTGAAGGGCCA	0.438																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999795	0.990000	1.000000																										0				590						c.(41353-41355)Gct>Act		mucin 16, cell surface associated							55.0	53.0	54.0					19																	8995635		1911	4126	6037	SO:0001630	splice_region_variant	94025	0	0					g.chr19:8995635C>T	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.41353+1G>A	chr19.hg19:g.8995635C>T		0					MUC16_ENST00000380951.5_Splice_Site_p.A426T	p.A13785T	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		63	41556	-			Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	1	0	hg19	c.41353G>A	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322407	0.23994	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37058	1.22;1.22	1.27	1.27	0.21489	1.27	1.27	0.21489	.	.	.	.	.	T	0.34600	0.0903	N	0.16368	0.405	.	.	.	D;P	0.57571	0.98;0.954	P;D	0.66351	0.892;0.943	T	0.38351	-0.9665	7	.	.	.	.	5.9958	0.19493	0.0:1.0:0.0:0.0	.	21430;13785	Q8WXI7;B5ME49	MUC16_HUMAN;.	T	13785;426	ENSP00000381008:A13785T;ENSP00000370338:A426T	.	A	-	1	0	0	MUC16	8856635	8856635	0.138000	0.22547	0.012000	0.15200	0.019000	0.09904	0.967000	0.29344	1.038000	0.40049	0.436000	0.28706	GCT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.640086	1	0.170000	NM_024690	Missense_Mutation		15	15		61	60	1		1	1		0	0	32	0		9.999216e-01	9.995363e-01	0	17	0	42	0	15	61
MUC16	94025	broad.mit.edu	37	19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13683	SEA 11. {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)				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						GTACAGAGGGCCAACACTGGT	0.562																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(41041-41043)gGc>gAc		mucin 16, cell surface associated							112.0	92.0	98.0					19																	8997154		1988	4166	6154	SO:0001583	missense	94025	0	0					g.chr19:8997154C>T	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.41042G>A	chr19.hg19:g.8997154C>T	ENSP00000381008:p.Gly13681Asp	0					MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	p.G13681D	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		60	41245	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.41042G>A	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.24|13.24	2.178015|2.178015	0.38511|0.38511	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.39592	.|1.07;1.07	2.76|2.76	1.68|1.68	0.24146|0.24146	2.76|2.76	1.68|1.68	0.24146|0.24146	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.64091|0.64091	0.2567|0.2567	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.85130	.|0.874;0.997	T|T	0.69383|0.69383	-0.5160|-0.5160	4|8	.|0.54805	.|T	.|0.06	-12.8308|-12.8308	6.5941|6.5941	0.22664|0.22664	0.3266:0.6734:0.0:0.0|0.3266:0.6734:0.0:0.0	.|.	.|21326;13681	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	521|13681;322	.|ENSP00000381008:G13681D;ENSP00000370338:G322D	.|ENSP00000370338:G322D	A|G	-|-	1|2	0|0	0|0	MUC16|MUC16	8858154|8858154	8858154|8858154	0.073000|0.073000	0.21202|0.21202	0.002000|0.002000	0.10522|0.10522	0.098000|0.098000	0.18820|0.18820	1.582000|1.582000	0.36568|0.36568	0.661000|0.661000	0.30985|0.30985	0.400000|0.400000	0.26472|0.26472	GCC|GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_024690			63	59		287	274	1		1	1		0	0	88	0		1	9.997748e-01	0	36	0	23	0	63	287
MUC16	94025	broad.mit.edu	37	19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13545	SEA 10. {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)				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						TTTGGTGGCTGCCCCATCCTT	0.597																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(40627-40629)gCa>gTa		mucin 16, cell surface associated							76.0	67.0	70.0					19																	8999547		1934	4124	6058	SO:0001583	missense	94025	0	0					g.chr19:8999547G>A	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.40628C>T	chr19.hg19:g.8999547G>A	ENSP00000381008:p.Ala13543Val	0					MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	p.A13543V	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		56	40831	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.40628C>T	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.972987|1.972987	0.34848|0.34848	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.44881|.	0.91;0.91|.	3.48|3.48	-3.76|-3.76	0.04359|0.04359	3.48|3.48	-3.76|-3.76	0.04359|0.04359	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.40670|.	0.1126|.	L|L	0.49126|0.49126	1.545|1.545	.|.	.|.	.|.	P;D|.	0.55385|.	0.901;0.971|.	P;D|.	0.68192|.	0.456;0.956|.	T|.	0.50127|.	-0.8864|.	8|.	0.46703|.	T|.	0.11|.	0.184|0.184	6.1059|6.1059	0.20073|0.20073	0.1102:0.0:0.2301:0.6598|0.1102:0.0:0.2301:0.6598	.|.	21188;13543|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	V|X	13543;184|383	ENSP00000381008:A13543V;ENSP00000370338:A184V|.	ENSP00000370338:A184V|.	A|Q	-|-	2|1	0|0	0|0	MUC16|MUC16	8860547|8860547	8860547|8860547	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	-0.010000|-0.010000	0.12743|0.12743	-0.401000|-0.401000	0.07644|0.07644	-0.320000|-0.320000	0.08662|0.08662	GCA|CAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0		16	3	2	1		1	1	108		108	86	1	2.060000	-20.000000	1	0.170000	NM_024690			103	102		435	305	1		1	1		1	0	108	0		1	9.942473e-01	0	17	0	28	0	103	435
MUC16	94025	broad.mit.edu	37	19	9000566	9000566	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13475					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)				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						AGGGCTGGCGGCTATAGTGAA	0.393																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(40417-40419)aCc>aTc		mucin 16, cell surface associated							127.0	105.0	112.0					19																	9000566		1905	4125	6030	SO:0001630	splice_region_variant	94025	0	0					g.chr19:9000566G>A	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.40418-1C>T	chr19.hg19:g.9000566G>A		0					MUC16_ENST00000380951.5_Splice_Site_p.T114I	p.T13473I	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		54	40621	-			Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	1	0	hg19	c.40418C>T	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.513|7.513	0.655018|0.655018	0.14580|0.14580	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32515	.|1.45;1.96	2.84|2.84	1.78|1.78	0.24846|0.24846	2.84|2.84	1.78|1.78	0.24846|0.24846	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.03608|0.03608	-0.345|-0.345	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.012;0.988	.|B;D	.|0.71656	.|0.001;0.974	T|T	0.28964|0.28964	-1.0027|-1.0027	4|8	.|0.54805	.|T	.|0.06	.|.	5.6625|5.6625	0.17676|0.17676	0.1621:0.0:0.8379:0.0|0.1621:0.0:0.8379:0.0	.|.	.|21118;13473	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	313|13473;114	.|ENSP00000381008:T13473I;ENSP00000370338:T114I	.|ENSP00000370338:T114I	P|T	-|-	1|2	0|0	0|0	MUC16|MUC16	8861566|8861566	8861566|8861566	0.100000|0.100000	0.21855|0.21855	0.019000|0.019000	0.16419|0.16419	0.008000|0.008000	0.06430|0.06430	0.170000|0.170000	0.16663|0.16663	0.535000|0.535000	0.28714|0.28714	0.281000|0.281000	0.19383|0.19383	CCG|ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_024690	Missense_Mutation		59	57		240	232	1		1	1		0	0	75	0		1	9.608347e-01	0	4	0	20	0	59	240
MUC16	94025	broad.mit.edu	37	19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13450					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)				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						ACTTCTGGTGGTCGTCATAGA	0.498																																						ENST00000397910.4	1.000000	0.740000	1	9.900000e-01	0.990000	0.978961	0.990000	1.000000																										0				590						c.(40342-40344)aCc>aTc		mucin 16, cell surface associated							96.0	85.0	89.0					19																	9002161		1971	4145	6116	SO:0001583	missense	94025	0	0					g.chr19:9002161G>A	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.40343C>T	chr19.hg19:g.9002161G>A	ENSP00000381008:p.Thr13448Ile	0					MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	p.T13448I	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		52	40546	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.40343C>T	CCDS54212.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.235|3.235	-0.156656|-0.156656	0.06544|0.06544	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.33654	.|1.4;1.4	1.38|1.38	-2.76|-2.76	0.05896|0.05896	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	.|B;D	.|0.61697	.|0.001;0.99	.|B;D	.|0.74348	.|0.0;0.983	T|T	0.44787|0.44787	-0.9305|-0.9305	4|8	.|0.40728	.|T	.|0.16	.|.	3.7638|3.7638	0.08615|0.08615	0.3283:0.3967:0.275:0.0|0.3283:0.3967:0.275:0.0	.|.	.|21093;13448	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	288|13448;89	.|ENSP00000381008:T13448I;ENSP00000370338:T89I	.|ENSP00000370338:T89I	P|T	-|-	1|2	0|0	0|0	MUC16|MUC16	8863161|8863161	8863161|8863161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.122000|0.122000	0.20287|0.20287	-2.921000|-2.921000	0.00693|0.00693	-1.763000|-1.763000	0.01307|0.01307	0.274000|0.274000	0.19336|0.19336	CCA|ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.051960	1	0.170000	NM_024690			12	12		96	95	1		1	1		0	0	27	0		9.992584e-01	9.764272e-01	0	5	0	49	0	12	96
MUC16	94025	broad.mit.edu	37	19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12722	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			H -> C (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)				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						CTTCCTGGAGCCAGGGCAATG	0.547																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(38158-38160)gGc>gAc		mucin 16, cell surface associated							191.0	170.0	177.0					19																	9015664		2009	4165	6174	SO:0001583	missense	94025	0	0					g.chr19:9015664C>T	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.38159G>A	chr19.hg19:g.9015664C>T	ENSP00000381008:p.Gly12720Asp	0						p.G12720D	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		29	38362	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.38159G>A	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.754823	0.31046	.	.	ENSG00000181143	ENST00000397910	T	0.62941	-0.01	3.44	2.36	0.29203	3.44	2.36	0.29203	.	.	.	.	.	T	0.74458	0.3719	M	0.73430	2.235	.	.	.	D	0.76494	0.999	D	0.91635	0.999	T	0.78947	-0.2003	8	0.87932	D	0	.	7.2608	0.26201	0.0:0.8579:0.0:0.1421	.	12720	B5ME49	.	D	12720	ENSP00000381008:G12720D	ENSP00000381008:G12720D	G	-	2	0	0	MUC16	8876664	8876664	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.069000	0.14552	1.616000	0.50265	0.305000	0.20034	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1		2	2	2	0		0	0	137		137	134	1	2.060000	-20.000000	1	0.170000	NM_024690			122	120		579	564	1		1	1		0	0	137	0		1	9.005634e-01	0	7	0	14	0	122	579
MUC16	94025	broad.mit.edu	37	19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11828	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)				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						CCAGTTACAAGTAGGGTGAAG	0.502																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(35476-35478)Ctt>Att		mucin 16, cell surface associated							69.0	69.0	69.0					19																	9046155		2006	4172	6178	SO:0001583	missense	94025	0	0					g.chr19:9046155G>T	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.35476C>A	chr19.hg19:g.9046155G>T	ENSP00000381008:p.Leu11826Ile	0						p.L11826I	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	35679	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.35476C>A	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604682	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.03496	3.91	2.32	-1.49	0.08718	2.32	-1.49	0.08718	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	.	.	.	P	0.46020	0.871	B	0.41036	0.346	T	0.39333	-0.9619	8	0.87932	D	0	.	3.3382	0.07108	0.2855:0.0:0.5162:0.1983	.	11826	B5ME49	.	I	11826	ENSP00000381008:L11826I	ENSP00000381008:L11826I	L	-	1	0	0	MUC16	8907155	8907155	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.245000	0.09625	0.305000	0.20034	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_024690			54	53		192	185	1		1	1		0	0	49	0		1	9.972815e-01	0	20	0	15	0	54	192
MUC16	94025	broad.mit.edu	37	19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11772	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)				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						AAGGCTGTGGTCTCTGGCATA	0.483																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(35308-35310)Acc>Gcc		mucin 16, cell surface associated							132.0	126.0	128.0					19																	9046323		2012	4191	6203	SO:0001583	missense	94025	0	0					g.chr19:9046323T>C	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.35308A>G	chr19.hg19:g.9046323T>C	ENSP00000381008:p.Thr11770Ala	0						p.T11770A	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	35511	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.35308A>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	t	7.046	0.563457	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	3.57	1.5	0.22942	3.57	1.5	0.22942	.	.	.	.	.	T	0.02533	0.0077	L	0.43152	1.355	.	.	.	P	0.35745	0.518	B	0.36378	0.223	T	0.30851	-0.9964	8	0.87932	D	0	.	5.016	0.14337	0.0:0.2506:0.0:0.7494	.	11770	B5ME49	.	A	11770	ENSP00000381008:T11770A	ENSP00000381008:T11770A	T	-	1	0	0	MUC16	8907323	8907323	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.377000	0.20552	0.270000	0.21984	0.454000	0.30748	ACC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_024690			62	61		246	241	1		1	1		0	0	69	0		1	9.959092e-01	0	12	0	24	0	62	246
MUC16	94025	broad.mit.edu	37	19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11511	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)				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						ACTATGGGAAAACTTGGGAGT	0.502																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(34525-34527)tTt>tGt		mucin 16, cell surface associated							150.0	146.0	148.0					19																	9047105		2058	4202	6260	SO:0001583	missense	94025	0	0					g.chr19:9047105A>C	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.34526T>G	chr19.hg19:g.9047105A>C	ENSP00000381008:p.Phe11509Cys	0						p.F11509C	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	34729	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.34526T>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	a	3.552	-0.091455	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	2.48	1.45	0.22620	2.48	1.45	0.22620	.	.	.	.	.	T	0.05640	0.0148	L	0.55481	1.735	.	.	.	D	0.61080	0.989	P	0.59012	0.85	T	0.25152	-1.0140	8	0.87932	D	0	.	4.1958	0.10443	0.8262:0.0:0.1738:0.0	.	11509	B5ME49	.	C	11509	ENSP00000381008:F11509C	ENSP00000381008:F11509C	F	-	2	0	0	MUC16	8908105	8908105	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.381000	0.24851	0.478000	0.44815	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	100		100	97	1	2.060000	-20.000000	1	0.170000	NM_024690			88	87		435	424	1		1	1		0	0	100	0		1	9.456667e-01	0	7	0	19	0	88	435
MUC16	94025	broad.mit.edu	37	19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11282	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)				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						CTTGAGGTTGTCCTGGGAAGA	0.463																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999585	0.990000	1.000000																										0				590						c.(33838-33840)Aca>Gca		mucin 16, cell surface associated							63.0	57.0	59.0					19																	9047793		1948	4159	6107	SO:0001583	missense	94025	0	0					g.chr19:9047793T>C	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.33838A>G	chr19.hg19:g.9047793T>C	ENSP00000381008:p.Thr11280Ala	0						p.T11280A	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	34041	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.33838A>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	t	5.086	0.201588	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.27	1.24	0.21308	2.27	1.24	0.21308	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	.	.	.	P	0.45594	0.862	P	0.44477	0.451	T	0.33879	-0.9851	8	0.87932	D	0	.	4.1022	0.10018	0.0:0.1779:0.0:0.8221	.	11280	B5ME49	.	A	11280	ENSP00000381008:T11280A	ENSP00000381008:T11280A	T	-	1	0	0	MUC16	8908793	8908793	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.040000	0.13905	0.311000	0.23014	0.414000	0.27820	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-12.333280	1	0.170000	NM_024690			19	19		102	100	1		1	1		0	0	33	0		9.999938e-01	8.389925e-01	0	6	0	14	0	19	102
MUC16	94025	broad.mit.edu	37	19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11120	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.L6751F(1)|p.L11118F(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						CTAGAAGAAAGAGTTAGAATT	0.498																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.L6751F(1)|p.L11118F(1)	prostate(2)	590						c.(33352-33354)Ctt>Att		mucin 16, cell surface associated							81.0	74.0	76.0					19																	9048279		1915	4116	6031	SO:0001583	missense	94025	0	0					g.chr19:9048279G>T	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.33352C>A	chr19.hg19:g.9048279G>T	ENSP00000381008:p.Leu11118Ile	0						p.L11118I	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	33555	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.33352C>A	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	g	4.847	0.157510	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.94	-5.88	0.02290	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02342	0.0072	L	0.40543	1.245	.	.	.	B	0.27656	0.184	B	0.30646	0.118	T	0.43147	-0.9409	8	0.87932	D	0	.	0.4756	0.00539	0.1814:0.21:0.2627:0.3459	.	11118	B5ME49	.	I	11118	ENSP00000381008:L11118I	ENSP00000381008:L11118I	L	-	1	0	0	MUC16	8909279	8909279	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.687000	0.00393	-2.006000	0.00958	-0.492000	0.04666	CTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.240602	1	0.170000	NM_024690			78	77		324	316	1		1	1		0	0	91	0		1	9.048925e-01	0	9	0	10	0	78	324
MUC16	94025	broad.mit.edu	37	19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	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)				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						GTCACCACTCCTGGTACCCCA	0.488																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(32794-32796)Gga>Tga		mucin 16, cell surface associated							115.0	105.0	108.0					19																	9048837		1909	4118	6027	SO:0001587	stop_gained	94025	0	0					g.chr19:9048837C>A	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.32794G>T	chr19.hg19:g.9048837C>A	ENSP00000381008:p.Gly10932*	0						p.G10932*	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		5	32997	-			Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	0	1	hg19	c.32794G>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	c	60	50.752531	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.7	1.49	0.22878	3.7	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7297	0.18032	0.0:0.7426:0.0:0.2574	.	.	.	.	X	10932	.	ENSP00000381008:G10932X	G	-	1	0	0	MUC16	8909837	8909837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.870000	0.04228	0.476000	0.27440	0.586000	0.80456	GGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.690072	1	0.170000	NM_024690			115	112		453	444	1		1	1		0	0	109	0		1	6.325488e-01	0	5	0	5	0	115	453
MUC16	94025	broad.mit.edu	37	19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10433	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)				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						GTGATGTGTTCCATAATGCCA	0.458																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999048	0.990000	1.000000																										0				590						c.(31291-31293)Gaa>Taa		mucin 16, cell surface associated							251.0	237.0	241.0					19																	9054331		1958	4165	6123	SO:0001587	stop_gained	94025	0	0					g.chr19:9054331C>A	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.31291G>T	chr19.hg19:g.9054331C>A	ENSP00000381008:p.Glu10431*	0						p.E10431*	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		4	31494	-			Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	0	1	hg19	c.31291G>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	c	60	48.001481	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.25	-4.47	0.03525	3.25	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4466	0.16539	0.0:0.2562:0.1717:0.5721	.	.	.	.	X	10431	.	ENSP00000381008:E10431X	E	-	1	0	0	MUC16	8915331	8915331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.925000	0.03775	-0.218000	0.12543	GAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-11.470490	1	0.170000	NM_024690			18	16		104	100	1		1	1		0	0	31	0		9.999825e-01	5.123137e-01	0	4	0	7	0	18	104
MUC16	94025	broad.mit.edu	37	19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9980	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)				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						GCCAAGGGGGCTGTTGTTGTG	0.463																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(29932-29934)Gcc>Tcc		mucin 16, cell surface associated							214.0	209.0	211.0					19																	9057514		1958	4145	6103	SO:0001583	missense	94025	1	120934	35				g.chr19:9057514C>A	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.29932G>T	chr19.hg19:g.9057514C>A	ENSP00000381008:p.Ala9978Ser	0						p.A9978S	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	30135	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.29932G>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	c	5.810	0.333732	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.13	-3.47	0.04753	2.13	-3.47	0.04753	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.33445	-0.9868	8	0.87932	D	0	.	0.2525	0.00207	0.2077:0.2926:0.2051:0.2946	.	9978	B5ME49	.	S	9978	ENSP00000381008:A9978S	ENSP00000381008:A9978S	A	-	1	0	0	MUC16	8918514	8918514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.167000	0.01271	-0.745000	0.04772	0.460000	0.39030	GCC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		17	2	2	0		0	1	221		221	221	1	2.060000	-20.000000	1	0.170000	NM_024690			204	200		873	848	1		1	1		0	0	221	0		1	8.584247e-01	0	10	0	7	0	204	873
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C	rs182912100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		23101	0.001		0.0	False		,,,				2504	0.0					ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T5288A(1)|p.T9655A(1)	large_intestine(2)	590						c.(28963-28965)Aca>Gca		mucin 16, cell surface associated							173.0	152.0	159.0					19																	9058483		2003	4169	6172	SO:0001583	missense	94025	0	0					g.chr19:9058483T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28963A>G	chr19.hg19:g.9058483T>C	ENSP00000381008:p.Thr9655Ala	0						p.T9655A	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	29166	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.28963A>G	CCDS54212.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	0	MUC16	8919483	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_024690			80	79		281	277	1		1	1		0	0	73	0		1	6.863238e-01	0	3	0	7	0	80	281
MUC16	94025	broad.mit.edu	37	19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9111	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)				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						TGAGATGCAGTTGAGTGGGTC	0.488																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(27325-27327)Act>Tct		mucin 16, cell surface associated							119.0	110.0	113.0					19																	9060121		1923	4137	6060	SO:0001583	missense	94025	0	0					g.chr19:9060121T>A	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.27325A>T	chr19.hg19:g.9060121T>A	ENSP00000381008:p.Thr9109Ser	0						p.T9109S	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	27528	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.27325A>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	t	9.422	1.083164	0.20309	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.5	-4.42	0.03579	2.5	-4.42	0.03579	.	.	.	.	.	T	0.12178	0.0296	N	0.24115	0.695	.	.	.	B	0.23990	0.095	B	0.20767	0.031	T	0.29671	-1.0004	8	0.87932	D	0	.	0.5924	0.00730	0.1927:0.3402:0.1947:0.2725	.	9109	B5ME49	.	S	9109	ENSP00000381008:T9109S	ENSP00000381008:T9109S	T	-	1	0	0	MUC16	8921121	8921121	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-2.678000	0.00839	-0.967000	0.03582	0.378000	0.23410	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	88		88	89	1	2.060000	-20.000000	1	0.170000	NM_024690			75	74		332	325	1		1	1		0	0	88	0		1	7.922263e-01	0	11	0	4	0	75	332
MUC16	94025	broad.mit.edu	37	19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8775	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)				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						GGAGTAGAAATTCTAGTGATG	0.507																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(26317-26319)Att>Gtt		mucin 16, cell surface associated							153.0	138.0	143.0					19																	9061129		1966	4152	6118	SO:0001583	missense	94025	0	0					g.chr19:9061129T>C	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.26317A>G	chr19.hg19:g.9061129T>C	ENSP00000381008:p.Ile8773Val	0						p.I8773V	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	26520	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.26317A>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	N	4.633	0.117590	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.28	-2.41	0.06562	2.28	-2.41	0.06562	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.13407	0.009	T	0.48990	-0.8985	8	0.87932	D	0	.	0.0826	0.00033	0.2812:0.2196:0.2523:0.2469	.	8773	B5ME49	.	V	8773	ENSP00000381008:I8773V	ENSP00000381008:I8773V	I	-	1	0	0	MUC16	8922129	8922129	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.877000	0.04197	-0.533000	0.06323	0.248000	0.18094	ATT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_024690			101	93		388	380	1		1	1		0	0	84	0		1	1.933958e-01	0	3	0	1	0	101	388
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	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)				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						TATGCCCATCCTGTCTGTGGT	0.478																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(24928-24930)aGg>aTg		mucin 16, cell surface associated							108.0	101.0	103.0					19																	9062517		1958	4156	6114	SO:0001583	missense	94025	0	0					g.chr19:9062517C>A	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.24929G>T	chr19.hg19:g.9062517C>A	ENSP00000381008:p.Arg8310Met	0						p.R8310M	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	25132	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.24929G>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	c	0.250	-1.007424	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.58	-5.16	0.02857	2.58	-5.16	0.02857	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	.	.	.	B	0.23854	0.092	B	0.21917	0.037	T	0.19549	-1.0302	8	0.87932	D	0	.	0.8857	0.01243	0.3313:0.3119:0.159:0.1978	.	8310	B5ME49	.	M	8310	ENSP00000381008:R8310M	ENSP00000381008:R8310M	R	-	2	0	0	MUC16	8923517	8923517	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.886000	0.00712	-4.006000	0.00082	-0.815000	0.03128	AGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-2.976431	1	0.170000	NM_024690			102	96		412	404	1		1	1		0	0	98	0		1	3.436897e-01	0	3	0	3	0	102	412
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	C	T	rs547807971	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	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)				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						CCACATTAGTCGCTGCTGTGC	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		22607	0.0		0.0	False		,,,				2504	0.002					ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(20662-20664)gcG>gcA		mucin 16, cell surface associated							240.0	228.0	232.0					19																	9066782		2122	4247	6369	SO:0001819	synonymous_variant	94025	7	121172	41				g.chr19:9066782C>T	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.20664G>A	chr19.hg19:g.9066782C>T		0						p.A6888A	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	20867	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.20664G>A	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_024690			160	156		787	769	1		1	1		0	0	149	0		1	7.107896e-01	0	6	0	8	0	160	787
MUC16	94025	broad.mit.edu	37	19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6544	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)				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						GGGAGTGAAGTCAGATGAACA	0.507																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(19624-19626)Act>Gct		mucin 16, cell surface associated							85.0	78.0	80.0					19																	9067822		1935	4119	6054	SO:0001583	missense	94025	0	0					g.chr19:9067822T>C	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.19624A>G	chr19.hg19:g.9067822T>C	ENSP00000381008:p.Thr6542Ala	0						p.T6542A	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	19827	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.19624A>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	t	2.252	-0.371374	0.05034	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	0.691	0.691	0.18045	0.691	0.691	0.18045	.	.	.	.	.	T	0.37019	0.0988	L	0.52573	1.65	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.52260	-0.8599	7	0.87932	D	0	.	.	.	.	.	6542	B5ME49	.	A	6542	ENSP00000381008:T6542A	ENSP00000381008:T6542A	T	-	1	0	0	MUC16	8928822	8928822	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.860000	0.04272	0.568000	0.29311	0.149000	0.16113	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-19.997550	1	0.170000	NM_024690			35	35		140	137	1		1	1		0	0	38	0		1	1.876986e-01	0	2	0	2	0	35	140
MUC16	94025	broad.mit.edu	37	19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5573	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)				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						AGCCCCAGGAGTAGTTGTTTG	0.512																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(16711-16713)aCt>aTt		mucin 16, cell surface associated							246.0	228.0	234.0					19																	9070734		2035	4178	6213	SO:0001583	missense	94025	0	0					g.chr19:9070734G>A	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.16712C>T	chr19.hg19:g.9070734G>A	ENSP00000381008:p.Thr5571Ile	0						p.T5571I	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	16915	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.16712C>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	g	1.656	-0.512783	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.4	-0.935	0.10423	1.4	-0.935	0.10423	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.42749	-0.9433	8	0.87932	D	0	.	4.1256	0.10126	0.4334:0.0:0.5666:0.0	.	5571	B5ME49	.	I	5571	ENSP00000381008:T5571I	ENSP00000381008:T5571I	T	-	2	0	0	MUC16	8931734	8931734	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.341000	0.07811	-0.205000	0.10219	-0.703000	0.03666	ACT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	195		195	194	1	2.060000	-20.000000	1	0.170000	NM_024690			170	167		779	761	1		1	1		0	0	195	0		1	3.670190e-01	0	5	0	2	0	170	779
MUC16	94025	broad.mit.edu	37	19	9072986	9072986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	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)				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						TTGTCTCTATATCTGTGGTGG	0.463																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(14458-14460)gaT>gaC		mucin 16, cell surface associated							152.0	142.0	145.0					19																	9072986		2075	4219	6294	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9072986A>G	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.14460T>C	chr19.hg19:g.9072986A>G		0						p.D4820D	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	14663	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.14460T>C	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-19.999990	1	0.170000	NM_024690			47	47		237	233	1		1	1		0	0	63	0		1	1.995874e-01	0	2	0	3	0	47	237
MUC16	94025	broad.mit.edu	37	19	9075035	9075035	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4139	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)				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						CTTTGCTAAAGAGAGTGGTCT	0.512																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(12409-12411)ctC>ctA		mucin 16, cell surface associated							141.0	131.0	134.0					19																	9075035		2043	4182	6225	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9075035G>T	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.12411C>A	chr19.hg19:g.9075035G>T		0						p.L4137L	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		3	12614	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.12411C>A	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.228449	1	0.170000	NM_024690			62	59		334	325	1		1	0		0	0	67	0		1	6.791854e-02	0	0	0	3	0	62	334
MUC16	94025	broad.mit.edu	37	19	9084855	9084855	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2320	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)				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						GAGCAGCAGAGGTGATTGTCC	0.478																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				590						c.(6958-6960)acC>acA		mucin 16, cell surface associated							90.0	92.0	92.0					19																	9084855		2000	4152	6152	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9084855G>T	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.6960C>A	chr19.hg19:g.9084855G>T		0						p.T2320T	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	7163	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.6960C>A	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_024690			27	27		124	121	1		1	0		0	0	34	0		1	0	0	1	0	0	0	27	124
MUC16	94025	broad.mit.edu	37	19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	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)				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						CAAAGTACTCGCGGCTGTATT	0.488																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(6352-6354)gCg>gTg		mucin 16, cell surface associated							129.0	126.0	127.0					19																	9085462		1925	4126	6051	SO:0001583	missense	94025	2	120836	32				g.chr19:9085462G>A	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.6353C>T	chr19.hg19:g.9085462G>A	ENSP00000381008:p.Ala2118Val	0						p.A2118V	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	6556	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.6353C>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.343569	0.01277	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	V	2118	ENSP00000381008:A2118V	ENSP00000381008:A2118V	A	-	2	0	0	MUC16	8946462	8946462	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	-0.606000	0.05654	-1.808000	0.01234	-1.786000	0.00637	GCG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_024690			136	134		661	649	1		1	0		0	0	147	0		1	0	0	0	0	1	0	136	661
MUC16	94025	broad.mit.edu	37	19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2090	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)				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						AAAGAGTGGAAATTCAGTCGT	0.473																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(6268-6270)tTt>tGt		mucin 16, cell surface associated							169.0	163.0	165.0					19																	9085546		1909	4128	6037	SO:0001583	missense	94025	0	0					g.chr19:9085546A>C	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.6269T>G	chr19.hg19:g.9085546A>C	ENSP00000381008:p.Phe2090Cys	0						p.F2090C	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	6472	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.6269T>G	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	a	0.555	-0.847763	0.02651	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	0.235	0.15431	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2090	B5ME49	.	C	2090	ENSP00000381008:F2090C	ENSP00000381008:F2090C	F	-	2	0	0	MUC16	8946546	8946546	0.009000	0.17119	0.102000	0.21198	0.102000	0.19082	0.745000	0.26259	0.263000	0.21812	0.260000	0.18958	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0		2	2	2	0		0	0	198		198	198	1	2.060000	-20.000000	1	0.170000	NM_024690			168	162		726	713	1		1			0	0	198	0		1	0	0	0	0	0	0	168	726
MUC16	94025	broad.mit.edu	37	19	9089523	9089523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	764	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)				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						CTGAGCTGGGCTTTGTCTTTG	0.478																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(2290-2292)aaG>aaA		mucin 16, cell surface associated							206.0	209.0	208.0					19																	9089523		2083	4225	6308	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9089523C>T	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.2292G>A	chr19.hg19:g.9089523C>T		0						p.K764K	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	2495	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.2292G>A	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_024690			134	129		616	598	0		1	1		0	0	143	0		1	3.225183e-02	0	2	0	0	0	134	616
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A	rs374207045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	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.S637S(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						TCAAATCTGCGGATGTCTCAG	0.582																																						ENST00000397910.4	1.000000	0.240000	5.400000e-01	3.100000e-01	0.410000	0.459888	0.410000	0.400000																										2	Substitution - coding silent(2)	p.S637S(2)	large_intestine(2)	590						c.(1909-1911)tcC>tcT		mucin 16, cell surface associated		G		1,4373		0,1,2186	113.0	117.0	115.0		1911	-3.1	0.0	19		115	0,8566		0,0,4283	no	coding-synonymous	MUC16	NM_024690.2		0,1,6469	AA,AG,GG		0.0,0.0229,0.0077		637/14508	9089904	1,12939	2187	4283	6470	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9089904G>A	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.1911C>T	chr19.hg19:g.9089904G>A		0						p.S637S	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	2114	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.1911C>T	CCDS54212.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.617219	1	0.170000	NM_024690			18	18		522	514	0		1	0		0	0	82	0		9.999798e-01	0	0	0	0	1	0	18	522
MUC16	94025	broad.mit.edu	37	19	9090171	9090171	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	548	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)				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						TTGATGCTGGGGGTCTCTCTG	0.527																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(1642-1644)ccC>ccA		mucin 16, cell surface associated							73.0	72.0	73.0					19																	9090171		2043	4209	6252	SO:0001819	synonymous_variant	94025	0	0					g.chr19:9090171G>T	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.1644C>A	chr19.hg19:g.9090171G>T		0						p.P548P	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	1847	-			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	1	1	hg19	c.1644C>A	CCDS54212.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	51		51	47	1	2.060000	-2.920353	1	0.170000	NM_024690			49	48		243	233	1		1			0	0	51	0		1	0	0	0	0	0	0	49	243
MUC16	94025	broad.mit.edu	37	19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	372	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)				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						TATCCATGGTCTCAGCGAAGG	0.517																																						ENST00000397910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				590						c.(1114-1116)gaG>gaT		mucin 16, cell surface associated							92.0	87.0	89.0					19																	9090699		2036	4189	6225	SO:0001583	missense	94025	0	0					g.chr19:9090699C>A	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.1116G>T	chr19.hg19:g.9090699C>A	ENSP00000381008:p.Glu372Asp	0						p.E372D	NM_024690.2	NP_078966.2	1	2	3	2.010022	Q8WXI7	MUC16_HUMAN		1	1319	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.1116G>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	c	3.030	-0.199854	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-1.31	0.09230	1.38	-1.31	0.09230	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.10450	0.005	T	0.46816	-0.9164	8	0.87932	D	0	.	1.9136	0.03292	0.3171:0.4568:0.0:0.2261	.	372	B5ME49	.	D	372	ENSP00000381008:E372D	ENSP00000381008:E372D	E	-	3	2	2	MUC16	8951699	8951699	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.040000	0.00633	-0.277000	0.09193	0.313000	0.20887	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_024690			45	44		190	188	1		1	0		0	0	46	0		1	0	0	0	0	1	0	45	190
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	C	T	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582																																						ENST00000429566.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(694-696)ggC>ggT		olfactory receptor, family 1, subfamily M, member 1				1,4405	2.1+/-5.4	0,1,2202	138.0	123.0	128.0		696	-7.6	0.0	19	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	OR1M1	NM_001004456.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		232/314	9204616	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125963	3	121412	40				g.chr19:9204616C>T		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.696C>T	chr19.hg19:g.9204616C>T		0						p.G232G	NM_001004456.1	NP_001004456.1	1	2	3	2.010022	Q8NGA1	OR1M1_HUMAN		1	762	+			B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	1	1	hg19	c.696C>T	CCDS32896.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000				127	124		573	566	1		1			0	0	157	0		1	0	0	0	0	0	0	127	573
OR7G3	390883	broad.mit.edu	37	19	9236904	9236904	+	Silent	SNP	G	G	A	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443																																						ENST00000305444.2	1.000000	0.360000	6.900000e-01	4.500000e-01	0.550000	0.587131	0.550000	0.530000																										0				15						c.(721-723)tgC>tgT		olfactory receptor, family 7, subfamily G, member 3		G		0,4406		0,0,2203	99.0	101.0	100.0		723	-0.7	0.6	19	dbSNP_134	100	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		241/313	9236904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390883	25	121412	48				g.chr19:9236904G>A		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.723C>T	chr19.hg19:g.9236904G>A		0						p.C241C	NM_001001958.1	NP_001001958.1	1	2	3	2.010022	Q8NG95	OR7G3_HUMAN		1	722	-			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	1	1	hg19	c.723C>T	CCDS32899.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-3.269778	1	0.170000				28	27		590	578	0		1			0	0	128	0		1	0	0	0	0	0	0	28	590
OR7G3	390883	broad.mit.edu	37	19	9237060	9237060	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458																																						ENST00000305444.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(565-567)tgT>tgC		olfactory receptor, family 7, subfamily G, member 3							73.0	71.0	71.0					19																	9237060		2203	4300	6503	SO:0001819	synonymous_variant	390883	0	0					g.chr19:9237060A>G		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.567T>C	chr19.hg19:g.9237060A>G		0						p.C189C	NM_001001958.1	NP_001001958.1	1	2	3	2.010022	Q8NG95	OR7G3_HUMAN		1	566	-			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	1	1	hg19	c.567T>C	CCDS32899.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				71	70		270	265	1		1			0	0	87	0		1	0	0	0	0	0	0	71	270
ZNF317	57693	broad.mit.edu	37	19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATGCGAGTTCACACTGGC	0.567																																						ENST00000247956.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(895-897)gTt>gCt		zinc finger protein 317							70.0	68.0	69.0					19																	9271217		2203	4300	6503	SO:0001583	missense	57693	0	0					g.chr19:9271217T>C	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.896T>C	chr19.hg19:g.9271217T>C	ENSP00000247956:p.Val299Ala	0					ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	p.V299A	NM_020933.4	NP_065984.3	1	2	3	2.010022	Q96PQ6	ZN317_HUMAN		7	1201	+			Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	1	1	hg19	c.896T>C	CCDS12210.1	1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763244	0.31228	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.09817	2.94;2.94	3.61	1.32	0.21799	3.61	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417750	0.17679	N	0.165690	T	0.06735	0.0172	N	0.17564	0.495	0.09310	N	1	B;B	0.25772	0.11;0.134	B;B	0.29077	0.059;0.098	T	0.31998	-0.9923	10	0.87932	D	0	-17.6165	6.4498	0.21898	0.0:0.2528:0.0:0.7472	.	267;299	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	A	299;267	ENSP00000247956:V299A;ENSP00000353554:V267A	ENSP00000247956:V299A	V	+	2	0	0	ZNF317	9132217	9132217	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-0.182000	0.09726	0.218000	0.20820	0.482000	0.46254	GTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_020933			95	93		309	307	1		1	1		0	0	71	0		1	9.999997e-01	0	27	0	47	0	95	309
OR7D2	162998	broad.mit.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					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.L110V(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						TTTTCCTATTCTGGACACGCT	0.517																																						ENST00000344248.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L110V(1)	ovary(1)	20						c.(328-330)Ctg>Atg		olfactory receptor, family 7, subfamily D, member 2							182.0	167.0	172.0					19																	9296785		2203	4300	6503	SO:0001583	missense	162998	0	0					g.chr19:9296785C>A	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.328C>A	chr19.hg19:g.9296785C>A	ENSP00000345563:p.Leu110Met	0						p.L110M	NM_175883.2	NP_787079.1	1	2	3	2.010022	Q96RA2	OR7D2_HUMAN		1	507	+			Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	1	1	hg19	c.328C>A	CCDS32900.1	1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390430	0.01185	.	.	ENSG00000188000	ENST00000344248	T	0.00892	5.57	2.21	-1.95	0.07548	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00580	0.0019	N	0.17872	0.535	0.09310	N	1	B	0.23937	0.094	B	0.23852	0.049	T	0.47560	-0.9108	10	0.31617	T	0.26	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	M	110	ENSP00000345563:L110M	ENSP00000345563:L110M	L	+	1	2	2	OR7D2	9157785	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000				144	144		675	664	1		1			0	0	168	0		1	0	0	0	0	0	0	144	675
OR7D4	125958	broad.mit.edu	37	19	9324695	9324695	+	Silent	SNP	G	G	A	rs141567228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324695G>A	ENST00000308682.2	-	1	847	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCACTGAGGCGGTGGAGCTGC	0.552													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17318	0.0		0.001	False		,,,				2504	0.0					ENST00000308682.2	1.000000	0.240000	6.300000e-01	3.300000e-01	0.450000	0.500639	0.450000	0.420000																										0				26						c.(817-819)acC>acT		olfactory receptor, family 7, subfamily D, member 4		G		2,4404	4.2+/-10.8	0,2,2201	72.0	64.0	67.0		819	-6.7	0.0	19	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR7D4	NM_001005191.2		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		273/313	9324695	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	125958	21	121412	47				g.chr19:9324695G>A		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.819C>T	chr19.hg19:g.9324695G>A		0						p.T273T	NM_001005191.2	NP_001005191.1	1	2	3	2.010022	Q8NG98	OR7D4_HUMAN		1	847	-			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	1	1	hg19	c.819C>T	CCDS32901.1	0																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0	0	1		12	2	2	1		1	1	103		103	103	1	2.060000	-2.642297	1	0.170000				12	11		319	308	0		0			1	0	103	0		5.424761e-01	0	0	0	0	0	0	12	319
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522																																						ENST00000308682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(592-594)Gtc>Atc		olfactory receptor, family 7, subfamily D, member 4							107.0	100.0	102.0					19																	9324922		2203	4300	6503	SO:0001583	missense	125958	0	0					g.chr19:9324922C>T		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.592G>A	chr19.hg19:g.9324922C>T	ENSP00000310488:p.Val198Ile	0						p.V198I	NM_001005191.2	NP_001005191.1	1	2	3	2.010022	Q8NG98	OR7D4_HUMAN		1	620	-			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	1	1	hg19	c.592G>A	CCDS32901.1	1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475593	0.26511	.	.	ENSG00000174667	ENST00000308682	T	0.37235	1.21	4.0	-7.23	0.01480	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.25382	0.0617	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.12656	-1.0539	10	0.49607	T	0.09	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	I	198	ENSP00000310488:V198I	ENSP00000310488:V198I	V	-	1	0	0	OR7D4	9185922	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000				92	92		421	406	1		1			0	0	111	0		1	0	0	0	0	0	0	92	421
OR7D4	125958	broad.mit.edu	37	19	9325388	9325388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527																																						ENST00000308682.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(124-126)aaC>aaT		olfactory receptor, family 7, subfamily D, member 4							78.0	74.0	75.0					19																	9325388		2203	4300	6503	SO:0001819	synonymous_variant	125958	0	0					g.chr19:9325388G>A		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.126C>T	chr19.hg19:g.9325388G>A		0						p.N42N	NM_001005191.2	NP_001005191.1	1	2	3	2.010022	Q8NG98	OR7D4_HUMAN		1	154	-			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	1	1	hg19	c.126C>T	CCDS32901.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	0		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000				105	103		419	401	0		1			0	0	118	0		1	0	0	0	0	0	0	105	419
OR7D4	125958	broad.mit.edu	37	19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498																																						ENST00000308682.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.988634	0.990000	1.000000																										0				26						c.(34-36)Ttt>Gtt		olfactory receptor, family 7, subfamily D, member 4							45.0	46.0	46.0					19																	9325480		2199	4295	6494	SO:0001583	missense	125958	0	0					g.chr19:9325480A>C		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.34T>G	chr19.hg19:g.9325480A>C	ENSP00000310488:p.Phe12Val	0						p.F12V	NM_001005191.2	NP_001005191.1	1	2	3	2.010022	Q8NG98	OR7D4_HUMAN		1	62	-			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	1	1	hg19	c.34T>G	CCDS32901.1	1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841269	0.51057	.	.	ENSG00000174667	ENST00000308682	T	0.04551	3.6	3.84	3.84	0.44239	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000010	T	0.24470	0.0593	H	0.94847	3.59	0.20703	N	0.999866	D	0.58268	0.982	P	0.58454	0.839	T	0.20940	-1.0260	10	0.87932	D	0	.	11.8803	0.52571	1.0:0.0:0.0:0.0	.	12	Q8NG98	OR7D4_HUMAN	V	12	ENSP00000310488:F12V	ENSP00000310488:F12V	F	-	1	0	0	OR7D4	9186480	9186480	0.974000	0.33945	0.032000	0.17829	0.013000	0.08279	2.328000	0.43867	1.762000	0.52044	0.172000	0.16884	TTT	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	0		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000				39	39		357	355	0		1			0	0	92	0		1	0	0	0	0	0	0	39	357
OR7E24	26648	broad.mit.edu	37	19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478																																						ENST00000456448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(394-396)Ctc>Atc		olfactory receptor, family 7, subfamily E, member 24							123.0	126.0	125.0					19																	9362113		2199	4300	6499	SO:0001583	missense	26648	0	0					g.chr19:9362113C>A	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.394C>A	chr19.hg19:g.9362113C>A	ENSP00000387523:p.Leu132Ile	0						p.L132I	NM_001079935.1	NP_001073404.1	1	2	3	2.010022	Q6IFN5	O7E24_HUMAN		1	508	+			B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	1	1	hg19	c.394C>A	CCDS45955.1	1	.	.	.	.	.	.	.	.	.	.	c	7.659	0.684572	0.14973	.	.	ENSG00000237521	ENST00000456448	T	0.06371	3.31	2.39	-1.88	0.07713	2.39	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09555	0.0235	L	0.45051	1.395	0.09310	N	1	D	0.62365	0.991	P	0.52672	0.706	T	0.21280	-1.0250	9	0.62326	D	0.03	.	7.3681	0.26785	0.1775:0.4772:0.3453:0.0	.	132	Q6IFN5	O7E24_HUMAN	I	132	ENSP00000387523:L132I	ENSP00000387523:L132I	L	+	1	0	0	OR7E24	9223113	9223113	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.683000	0.01934	-0.433000	0.07286	-0.445000	0.05633	CTC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				56	56		231	229	1		1			0	0	52	0		1	0	0	0	0	0	0	56	231
OR7E24	26648	broad.mit.edu	37	19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423																																						ENST00000456448.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				16						c.(712-714)aAa>aCa		olfactory receptor, family 7, subfamily E, member 24							28.0	29.0	29.0					19																	9362432		1915	4146	6061	SO:0001583	missense	26648	0	0					g.chr19:9362432A>C	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.713A>C	chr19.hg19:g.9362432A>C	ENSP00000387523:p.Lys238Thr	0						p.K238T	NM_001079935.1	NP_001073404.1	1	2	3	2.010022	Q6IFN5	O7E24_HUMAN		1	827	+			B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	0	1	hg19	c.713A>C	CCDS45955.1	1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666845	0.47677	.	.	ENSG00000237521	ENST00000456448	T	0.00084	8.75	2.21	-1.3	0.09259	2.21	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.73319	2.225	0.09310	N	1	D	0.67145	0.996	D	0.66196	0.942	T	0.45352	-0.9267	9	0.87932	D	0	.	7.2389	0.26086	0.481:0.0:0.519:0.0	.	238	Q6IFN5	O7E24_HUMAN	T	238	ENSP00000387523:K238T	ENSP00000387523:K238T	K	+	2	0	0	OR7E24	9223432	9223432	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-1.031000	0.03578	-0.447000	0.07138	0.358000	0.22013	AAA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000				21	20		78	77	1		1			0	0	13	0		9.999988e-01	0	0	0	0	0	0	21	78
ZNF699	374879	broad.mit.edu	37	19	9406257	9406257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	ENST00000591998.1	-	6	2051	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I	ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TCCAGTGTGGCTTCTCACATG	0.443																																						ENST00000591998.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1822-1824)aGc>aTc		zinc finger protein 699							89.0	95.0	93.0					19																	9406257		2202	4300	6502	SO:0001583	missense	374879	0	0					g.chr19:9406257C>A	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.1823G>T	chr19.hg19:g.9406257C>A	ENSP00000467723:p.Ser608Ile	0					ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I|CTC-325H20.4_ENST00000591336.1_RNA	p.S608I			1	2	3	2.010022	Q32M78	ZN699_HUMAN		6	2051	-			Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	1	0	hg19	c.1823G>T	CCDS42495.1	1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458727	0.01062	.	.	ENSG00000196110	ENST00000308650	T	0.17691	2.26	3.59	-2.13	0.07144	3.59	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000443	T	0.03915	0.0110	N	0.01761	-0.735	0.09310	N	1	B	0.25850	0.136	B	0.26517	0.07	T	0.41875	-0.9484	10	0.02654	T	1	.	7.2873	0.26346	0.3585:0.2286:0.413:0.0	.	608	Q32M78	ZN699_HUMAN	I	608	ENSP00000311596:S608I	ENSP00000311596:S608I	S	-	2	0	0	ZNF699	9267257	9267257	0.000000	0.05858	0.006000	0.13384	0.974000	0.67602	-0.665000	0.05286	-0.241000	0.09681	0.555000	0.69702	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.242885	1	0.170000	NM_198535			82	81		333	328	1		1	1		0	0	77	0		1	7.580527e-01	0	3	0	10	0	82	333
ZNF699	374879	broad.mit.edu	37	19	9408561	9408561	+	Missense_Mutation	SNP	C	C	T	rs140037536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9408561C>T	ENST00000591998.1	-	4	509	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.R94Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						CTTGCCTTCCCGGTGCTCTCC	0.443													C|||	22	0.00439297	0.0166	0.0	5008	,	,		14788	0.0		0.0	False		,,,				2504	0.0					ENST00000591998.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(280-282)cGg>cAg		zinc finger protein 699		C	GLN/ARG	50,3652		1,48,1802	105.0	101.0	102.0		281	1.3	0.6	19	dbSNP_134	102	1,8181		0,1,4090	yes	missense	ZNF699	NM_198535.1	43	1,49,5892	TT,TC,CC		0.0122,1.3506,0.4291	benign	94/643	9408561	51,11833	1851	4091	5942	SO:0001583	missense	374879	171	120808	56				g.chr19:9408561C>T	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.281G>A	chr19.hg19:g.9408561C>T	ENSP00000467723:p.Arg94Gln	0					ZNF699_ENST00000308650.3_Missense_Mutation_p.R94Q	p.R94Q			1	2	3	2.010022	Q32M78	ZN699_HUMAN		4	509	-			Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	1	0	hg19	c.281G>A	CCDS42495.1	1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	c	3.095	-0.185964	0.06340	0.013506	1.22E-4	ENSG00000196110	ENST00000308650	T	0.07021	3.23	3.47	1.34	0.21922	3.47	1.34	0.21922	.	.	.	.	.	T	0.01189	0.0039	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46610	-0.9179	9	0.21014	T	0.42	.	3.0093	0.06039	0.2105:0.1181:0.0:0.6714	.	94	Q32M78	ZN699_HUMAN	Q	94	ENSP00000311596:R94Q	ENSP00000311596:R94Q	R	-	2	0	0	ZNF699	9269561	9269561	0.018000	0.18449	0.609000	0.28983	0.041000	0.13682	0.508000	0.22692	0.197000	0.20387	-1.300000	0.01332	CGG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.308546	0	0.170000	NM_198535			53	50		305	297	1		1	1		0	0	84	0		1	6.383035e-01	0	2	0	12	0	53	305
ZNF559	84527	broad.mit.edu	37	19	9452958	9452958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000393883.2	+	6	1479	c.831C>T	c.(829-831)gcC>gcT	p.A277A	ZNF559_ENST00000317221.7_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	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)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348																																						ENST00000393883.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(829-831)gcC>gcT		zinc finger protein 559							83.0	90.0	88.0					19																	9452958		2203	4300	6503	SO:0001819	synonymous_variant	84527	0	0					g.chr19:9452958C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.831C>T	chr19.hg19:g.9452958C>T		0					ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000605471.1_Intron	p.A277A	NM_001202412.1	NP_001189341.1	1	2	3	2.010022	Q9BR84	ZN559_HUMAN		6	1479	+			K7EMG6	Silent	SNP	ENST00000393883.2	1	1	hg19	c.831C>T	CCDS12211.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_032497			87	87		425	423	1		1	1		0	0	125	0		1	8.917951e-01	0	6	0	15	0	87	425
ZNF559	84527	broad.mit.edu	37	19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A	rs182459884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000393883.2	+	6	1907	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF559_ENST00000317221.7_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	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)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418													G|||	3	0.000599042	0.0	0.0043	5008	,	,		23436	0.0		0.0	False		,,,				2504	0.0					ENST00000393883.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1258-1260)cGa>cAa		zinc finger protein 559							82.0	65.0	71.0					19																	9453386		2203	4300	6503	SO:0001583	missense	84527	11	121412	45				g.chr19:9453386G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1259G>A	chr19.hg19:g.9453386G>A	ENSP00000377461:p.Arg420Gln	0					ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000605471.1_Intron	p.R420Q	NM_001202412.1	NP_001189341.1	1	2	3	2.010022	Q9BR84	ZN559_HUMAN		6	1907	+			K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	1	1	hg19	c.1259G>A	CCDS12211.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.445	-0.327701	0.05314	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15017	2.46;2.46	2.22	-4.44	0.03557	2.22	-4.44	0.03557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.17278	0.47	0.09310	N	1	P;D;P	0.76494	0.937;0.999;0.544	B;P;B	0.61592	0.162;0.891;0.032	T	0.05750	-1.0866	9	0.02654	T	1	.	3.6878	0.08335	0.2228:0.0:0.325:0.4522	.	420;420;340	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	420;340;420	ENSP00000442832:R340Q;ENSP00000377461:R420Q	ENSP00000325393:R420Q	R	+	2	0	0	ZNF559	9314386	9314386	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-2.816000	0.00752	-1.259000	0.02468	0.313000	0.20887	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.375833	1	0.170000	NM_032497			68	66		319	314	1		1	1		0	0	68	0		1	9.865948e-01	0	9	0	25	0	68	319
ZNF177	7730	broad.mit.edu	37	19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000589262.1	+	6	1088	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	341					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)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAACCCTATGACTGTAAGGAA	0.458																																						ENST00000589262.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1021-1023)gAc>gGc		zinc finger protein 177							97.0	97.0	97.0					19																	9492029		2203	4300	6503	SO:0001583	missense	7730	0	0					g.chr19:9492029A>G	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.1022A>G	chr19.hg19:g.9492029A>G	ENSP00000468531:p.Asp341Gly	0					ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron	p.D341G	NM_001172651.1	NP_001166122.1	1	2	3	2.010022	Q13360	ZN177_HUMAN		6	1088	+			B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	1	1	hg19	c.1022A>G	CCDS54214.1	1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.361363	0.41801	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.18174	3.19;3.19;2.23	2.64	1.56	0.23342	2.64	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11023	0.085	0.25653	N	0.986071	B;B	0.32396	0.08;0.369	B;B	0.30251	0.085;0.113	T	0.21965	-1.0230	8	0.87932	D	0	.	3.3069	0.07003	0.5169:0.2449:0.0:0.2382	.	341;181	B4DY57;Q13360	.;ZN177_HUMAN	G	181;181;341	ENSP00000445323:D181G;ENSP00000341497:D181G;ENSP00000415070:D341G	ENSP00000341497:D181G	D	+	2	0	0	ZNF177	9353029	9353029	0.000000	0.05858	0.714000	0.30535	0.991000	0.79684	0.192000	0.17096	0.402000	0.25451	0.460000	0.39030	GAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_003451			68	65		287	279	1		1	0		0	0	88	0		1	6.003645e-01	0	1	0	9	0	68	287
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000535489.1	-	6	1422	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_ENST00000593003.1_Silent_p.K324K|ZNF426_ENST00000253115.2_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443																																						ENST00000535489.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1084-1086)aaG>aaA		zinc finger protein 426							92.0	92.0	92.0					19																	9639635		2203	4300	6503	SO:0001819	synonymous_variant	79088	0	0					g.chr19:9639635C>T	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.1086G>A	chr19.hg19:g.9639635C>T		0					ZNF426_ENST00000593003.1_Silent_p.K324K|ZNF426_ENST00000253115.2_Silent_p.K362K	p.K362K			1	2	3	2.010022	Q9BUY5	ZN426_HUMAN		6	1422	-			B3KTL2	Silent	SNP	ENST00000535489.1	1	1	hg19	c.1086G>A	CCDS12215.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_024106			66	66		254	252	1		1	1		0	0	68	0		1	9.626707e-01	0	3	0	20	0	66	254
ZNF426	79088	broad.mit.edu	37	19	9644530	9644530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	ENST00000535489.1	-	3	566	c.230A>G	c.(229-231)aAc>aGc	p.N77S	ZNF426_ENST00000593003.1_Missense_Mutation_p.N39S|ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	77	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGCCAGGTTCTTGTAGTT	0.478																																						ENST00000535489.1	1.000000	0.760000	1	8.800000e-01	0.990000	0.959709	0.990000	1.000000																										0				20						c.(229-231)aAc>aGc		zinc finger protein 426							239.0	179.0	199.0					19																	9644530		2203	4300	6503	SO:0001583	missense	79088	0	0					g.chr19:9644530T>C	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.230A>G	chr19.hg19:g.9644530T>C	ENSP00000439017:p.Asn77Ser	0					ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000593003.1_Missense_Mutation_p.N39S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S	p.N77S			1	2	3	2.010022	Q9BUY5	ZN426_HUMAN		3	566	-			B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	1	1	hg19	c.230A>G	CCDS12215.1	1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708981	0.48517	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.02525	4.26;4.26	1.41	0.358	0.16084	1.41	0.358	0.16084	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.81682	2.555	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.60415	0.874;0.874	T	0.21999	-1.0229	9	0.59425	D	0.04	.	1.4957	0.02466	0.3116:0.2127:0.0:0.4757	.	64;77	Q59EH4;Q9BUY5	.;ZN426_HUMAN	S	64;77;77	ENSP00000253115:N77S;ENSP00000439017:N77S	ENSP00000253115:N77S	N	-	2	0	0	ZNF426	9505530	9505530	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-0.969000	0.03813	0.046000	0.15833	0.260000	0.18958	AAC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	0	0	0		2	2	2	1		1	0	124		124	123	1	2.060000	-13.120760	1	0.170000	NM_024106			46	45		490	485	0		1	1		1	0	124	0		1	5.793811e-01	0	6	0	16	0	46	490
ZNF561	93134	broad.mit.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418																																						ENST00000302851.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1321-1323)cGa>cAa		zinc finger protein 561							152.0	146.0	148.0					19																	9721015		2203	4300	6503	SO:0001583	missense	93134	3	121412	40				g.chr19:9721015C>T	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.1322G>A	chr19.hg19:g.9721015C>T	ENSP00000303915:p.Arg441Gln	0					ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	p.R441Q	NM_152289.2	NP_689502.2	1	2	3	2.010022	Q8N587	ZN561_HUMAN		6	1685	-			B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	1	1	hg19	c.1322G>A	CCDS12216.2	1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	0	ZNF561	9582015	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	1	0	1		17	4	2	1		1	1	185		185	184	1	2.060000	-3.223379	1	0.170000	NM_152289			143	142		730	720	1		1	1		1	0	185	0		1	9.998831e-01	0	23	0	70	0	143	730
ZNF846	162993	broad.mit.edu	37	19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A	rs544217428		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358																																						ENST00000397902.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(613-615)aGa>aTa		zinc finger protein 846							118.0	123.0	122.0					19																	9869139		1997	4182	6179	SO:0001583	missense	162993	0	0					g.chr19:9869139C>A	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.614G>T	chr19.hg19:g.9869139C>A	ENSP00000380999:p.Arg205Ile	0					ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR	p.R205I	NM_001077624.1	NP_001071092.1	1	2	3	2.010022	Q147U1	ZN846_HUMAN		6	1027	-			A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	1	1	hg19	c.614G>T	CCDS42496.1	1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235018	0.39498	.	.	ENSG00000196605	ENST00000397902	T	0.38887	1.11	1.9	-1.57	0.08506	1.9	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33411	0.0862	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.41299	0.353	T	0.23868	-1.0176	8	.	.	.	.	6.1997	0.20569	0.0:0.3568:0.0:0.6432	.	205	Q147U1	ZN846_HUMAN	I	205	ENSP00000380999:R205I	.	R	-	2	0	0	ZNF846	9730139	9730139	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.490000	0.22403	-0.348000	0.08286	0.558000	0.71614	AGA	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-19.999960	1	0.170000	NM_001077624			49	48		268	260	1		1	0		0	0	77	0		1	6.684788e-02	0	1	0	2	0	49	268
FBXL12	54850	broad.mit.edu	37	19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	202					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CTGCAGATAGCTGAGCTCCTG	0.667																																						ENST00000247977.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(604-606)aGc>aTc		F-box and leucine-rich repeat protein 12							32.0	31.0	32.0					19																	9921948		2200	4292	6492	SO:0001583	missense	54850	0	0					g.chr19:9921948C>A	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.605G>T	chr19.hg19:g.9921948C>A	ENSP00000247977:p.Ser202Ile	0					FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	p.S202I	NM_017703.1	NP_060173.1	1	2	3	2.010022	Q9NXK8	FXL12_HUMAN		3	846	-			B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	1	1	hg19	c.605G>T	CCDS12218.1	1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067447	0.36470	.	.	ENSG00000127452	ENST00000247977	T	0.18174	2.23	5.0	1.69	0.24217	5.0	1.69	0.24217	.	0.694941	0.14622	N	0.308337	T	0.07234	0.0183	N	0.08118	0	0.32275	N	0.568401	B	0.32693	0.38	B	0.31869	0.137	T	0.34502	-0.9826	9	.	.	.	.	6.1812	0.20472	0.0:0.668:0.0:0.332	.	202	Q9NXK8	FXL12_HUMAN	I	202	ENSP00000247977:S202I	.	S	-	2	0	0	FBXL12	9782948	9782948	0.867000	0.29959	0.915000	0.36163	0.768000	0.43524	0.358000	0.20216	0.259000	0.21709	-0.136000	0.14681	AGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	1	0	1		2	2	2	0		0	0	62		62	58	1	2.060000	-20.000000	1	0.170000	NM_017703			73	73		255	254	1		1	1		0	0	62	0		1	9.999994e-01	0	9	0	66	0	73	255
PIN1	5300	broad.mit.edu	37	19	9949194	9949194	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	47					cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667																																						ENST00000247970.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				3						c.(139-141)aaC>aaT		peptidylprolyl cis/trans isomerase, NIMA-interacting 1							18.0	20.0	19.0					19																	9949194		2201	4296	6497	SO:0001819	synonymous_variant	5300	2	120926	28				g.chr19:9949194C>T		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.141C>T	chr19.hg19:g.9949194C>T		0					PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000588695.1_Silent_p.N47N	p.N47N	NM_006221.3	NP_006212.1	1	2	3	2.010022	Q13526	PIN1_HUMAN		2	163	+			A8K4V9|Q53X75	Silent	SNP	ENST00000247970.4	1	1	hg19	c.141C>T	CCDS12220.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000				16	15		61	60	0		1	1		0	0	12	0		9.999578e-01	1	0	89	0	265	0	16	61
OLFM2	93145	broad.mit.edu	37	19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	435	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)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602																																						ENST00000264833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1303-1305)Ggc>Agc		olfactomedin 2							93.0	81.0	85.0					19																	9964924		2203	4300	6503	SO:0001583	missense	93145	0	0					g.chr19:9964924C>T	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.1303G>A	chr19.hg19:g.9964924C>T	ENSP00000264833:p.Gly435Ser	0					OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S|AC008752.3_ENST00000582439.1_RNA	p.G435S	NM_058164.2	NP_477512.1	1	2	3	2.010022	O95897	NOE2_HUMAN		6	1488	-			Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	1	1	hg19	c.1303G>A	CCDS12221.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172235	0.78452	.	.	ENSG00000105088	ENST00000264833	D	0.91124	-2.79	4.3	4.3	0.51218	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	9	.	.	.	.	14.3013	0.66355	0.0:1.0:0.0:0.0	.	435	O95897	NOE2_HUMAN	S	435	ENSP00000264833:G435S	.	G	-	1	0	0	OLFM2	9825924	9825924	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.556000	0.82233	2.204000	0.70986	0.561000	0.74099	GGC	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.249169	1	0.170000				77	77		307	297	1		1	1		0	0	73	0		1	1	0	119	0	175	0	77	307
OLFM2	93145	broad.mit.edu	37	19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	272	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)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612																																						ENST00000264833.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				31						c.(814-816)Gtg>Atg		olfactomedin 2							52.0	51.0	51.0					19																	9965413		2203	4300	6503	SO:0001583	missense	93145	0	0					g.chr19:9965413C>T	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.814G>A	chr19.hg19:g.9965413C>T	ENSP00000264833:p.Val272Met	0					OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	p.V272M	NM_058164.2	NP_477512.1	1	2	3	2.010022	O95897	NOE2_HUMAN		6	999	-			Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	1	1	hg19	c.814G>A	CCDS12221.1	1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566389	0.65651	.	.	ENSG00000105088	ENST00000264833	D	0.91996	-2.95	4.45	4.45	0.53987	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.60575	0.988	P	0.58130	0.833	D	0.96273	0.9200	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	272	O95897	NOE2_HUMAN	M	272	ENSP00000264833:V272M	.	V	-	1	0	0	OLFM2	9826413	9826413	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.556000	0.82233	2.291000	0.77112	0.561000	0.74099	GTG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	0		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				33	32		155	152	1		1	1		0	0	34	0		1	1	0	63	0	122	0	33	155
OLFM2	93145	broad.mit.edu	37	19	9965432	9965432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	265	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)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582																																						ENST00000264833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(793-795)ccG>ccA		olfactomedin 2							42.0	42.0	42.0					19																	9965432		2203	4300	6503	SO:0001819	synonymous_variant	93145	1	121406	31				g.chr19:9965432C>T	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.795G>A	chr19.hg19:g.9965432C>T		0					OLFM2_ENST00000590841.1_Silent_p.P187P	p.P265P	NM_058164.2	NP_477512.1	1	2	3	2.010022	O95897	NOE2_HUMAN		6	980	-			Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	1	1	hg19	c.795G>A	CCDS12221.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				32	31		119	116	1		1	1		0	0	29	0		1	1	0	82	0	106	0	32	119
OLFM2	93145	broad.mit.edu	37	19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	97					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)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617																																						ENST00000264833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(289-291)gaG>gaT		olfactomedin 2							62.0	58.0	59.0					19																	9968460		2203	4300	6503	SO:0001583	missense	93145	0	0					g.chr19:9968460C>A	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.291G>T	chr19.hg19:g.9968460C>A	ENSP00000264833:p.Glu97Asp	0					OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	p.E97D	NM_058164.2	NP_477512.1	1	2	3	2.010022	O95897	NOE2_HUMAN		3	476	-			Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	1	1	hg19	c.291G>T	CCDS12221.1	1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158524	0.78114	.	.	ENSG00000105088	ENST00000264833	T	0.59224	0.28	3.91	3.91	0.45181	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.73217	2.22	0.46149	D	0.998896	D	0.76494	0.999	D	0.77557	0.99	T	0.70193	-0.4939	9	.	.	.	.	7.3153	0.26498	0.0:0.8816:0.0:0.1184	.	97	O95897	NOE2_HUMAN	D	97	ENSP00000264833:E97D	.	E	-	3	2	2	OLFM2	9829460	9829460	0.747000	0.28283	1.000000	0.80357	0.936000	0.57629	1.459000	0.35234	2.021000	0.59480	0.306000	0.20318	GAG	1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1		2	2	2	0		0	0	60		60	56	1	2.060000	-20.000000	1	0.170000				63	62		274	270	1		1	1		0	0	60	0		1	1	0	73	0	81	0	63	274
OLFM2	93145	broad.mit.edu	37	19	9971444	9971444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	30					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)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632																																						ENST00000264833.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998583	0.990000	1.000000																										0				31						c.(88-90)ggC>ggT		olfactomedin 2							26.0	25.0	25.0					19																	9971444		2203	4300	6503	SO:0001819	synonymous_variant	93145	0	0					g.chr19:9971444G>A	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.90C>T	chr19.hg19:g.9971444G>A		0					OLFM2_ENST00000590841.1_5'Flank	p.G30G	NM_058164.2	NP_477512.1	1	2	3	2.010022	O95897	NOE2_HUMAN		2	275	-			Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	1	1	hg19	c.90C>T	CCDS12221.1	1																																																																																								1.769955e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.944710	1	0.170000				11	11		49	47	1		1	1		0	0	14	0		9.986222e-01	9.999976e-01	0	60	0	81	0	11	49
MZF1	7593	broad.mit.edu	37	19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	30					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652																																						ENST00000215057.2			0	0																														0				11						c.(88-90)Gag>Aag		myeloid zinc finger 1							30.0	34.0	33.0					19																	59082669		2203	4300	6503	SO:0001583	missense	7593	0	0					g.chr19:59082669C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.88G>A	chr19.hg19:g.59082669C>T	ENSP00000215057:p.Glu30Lys						MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	p.E30K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1					P28698	MZF1_HUMAN		2	648	-		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)	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	1	1	hg19	c.88G>A	CCDS12988.1		.	.	.	.	.	.	.	.	.	.	.	7.538	0.660115	0.14645	.	.	ENSG00000099326	ENST00000215057	T	0.07327	3.2	3.67	1.45	0.22620	3.67	1.45	0.22620	.	0.426133	0.17364	N	0.176905	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	.	.	.	-7.2513	6.1722	0.20424	0.0:0.7625:0.0:0.2375	.	30;30	Q7Z729;P28698	.;MZF1_HUMAN	K	30	ENSP00000215057:E30K	.	E	-	1	0	0	MZF1	63774481	63774481	0.000000	0.05858	0.751000	0.31187	0.103000	0.19146	-0.083000	0.11286	0.514000	0.28300	0.655000	0.94253	GAG			TCGA-IB-7651-01A-11D-2154-08	0.652	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-20.000000	1	0.170000	NM_198055			35	34		136	131	1		1	1		0	0	37	0		1	9.973493e-01	0	16	0	23	0	35	136
AGL	178	broad.mit.edu	37	1	100329978	100329978	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100329978T>G	ENST00000294724.4	+	5	975	c.497T>G	c.(496-498)cTt>cGt	p.L166R	AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	166					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCAGACTCTTGGACTATCT	0.378																																						ENST00000294724.4	0.350000	0.100000	2.800000e-01	1.400000e-01	0.200000	0.218884	0.200000	0.200000																										0				69						c.(496-498)cTt>cGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							153.0	151.0	152.0					1																	100329978		2203	4300	6503	SO:0001583	missense	178	0	0					g.chr1:100329978T>G	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.497T>G	chr1.hg19:g.100329978T>G	ENSP00000294724:p.Leu166Arg	1					AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R	p.L166R	NM_000028.2	NP_000019.2	0	1	1	1.827221	P35573	GDE_HUMAN		5	975	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	0	1	hg19	c.497T>G	CCDS759.1	0	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520963	0.85495	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.47	5.47	0.80525	5.47	5.47	0.80525	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86694	0.5994	L	0.52905	1.665	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	0.84330	0.0521	10	0.17832	T	0.49	.	15.5552	0.76187	0.0:0.0:0.0:1.0	.	149;150;166	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	166;166;166;166;150;150;149	ENSP00000355106:L166R;ENSP00000359184:L166R;ENSP00000359182:L166R;ENSP00000294724:L166R;ENSP00000354971:L150R;ENSP00000359180:L150R;ENSP00000354635:L149R	ENSP00000294724:L166R	L	+	2	0	0	AGL	100102566	100102566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.078000	0.62432	0.460000	0.39030	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	0	0	0		2	2	2	0		0	0	98		98	98	1	2.060000	-8.346152	1	0.170000	NM_000028			10	10		519	509	0		1	0		0	0	98	0		9.966206e-01	1.447625e-01	0	0	0	32	0	10	519
AGL	178	broad.mit.edu	37	1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	786					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318																																						ENST00000294724.4	0.990000	0.550000	9.400000e-01	6.800000e-01	0.820000	0.816382	0.820000	0.880000																										0				69						c.(2356-2358)aCg>aTg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	110.0	107.0		2357,2357,2357,2357,2306,2309	2.9	0.0	1	dbSNP_134	107	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	81,81,81,81,81,81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	786/1533,786/1533,786/1533,786/1533,769/1516,770/1517	100349724	1,13001	2203	4298	6501	SO:0001583	missense	178	1	121392	41				g.chr1:100349724C>T	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.2357C>T	chr1.hg19:g.100349724C>T	ENSP00000294724:p.Thr786Met	1					AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M	p.T786M	NM_000028.2	NP_000019.2	0	1	1	1.827221	P35573	GDE_HUMAN		18	2835	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	1	1	hg19	c.2357C>T	CCDS759.1	0	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247814	0.10130	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.8	2.91	0.33838	5.8	2.91	0.33838	.	0.294418	0.40064	N	0.001190	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.31274	0.317;0.317;0.212	B;B;B	0.36989	0.238;0.238;0.12	T	0.13019	-1.0525	10	0.46703	T	0.11	.	10.9457	0.47299	0.0:0.7394:0.0:0.2606	.	769;770;786	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	786;786;786;786;770;770;769	ENSP00000355106:T786M;ENSP00000359184:T786M;ENSP00000359182:T786M;ENSP00000294724:T786M;ENSP00000354971:T770M;ENSP00000359180:T770M;ENSP00000354635:T769M	ENSP00000294724:T786M	T	+	2	0	0	AGL	100122312	100122312	0.001000	0.12720	0.014000	0.15608	0.097000	0.18754	0.478000	0.22212	0.788000	0.33755	-0.143000	0.13931	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-8.141136	1	0.170000	NM_000028			20	20		216	215	0		1	1		0	0	84	0		9.999961e-01	8.585911e-01	0	5	0	35	0	20	216
AGL	178	broad.mit.edu	37	1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	rs147977213	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	977					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		18919	0.002		0.0	False		,,,				2504	0.0					ENST00000294724.4	1.000000	0.920000	1	9.600000e-01	0.980000	0.984164	0.980000	0.990000																										0				69						c.(2929-2931)cGa>cAa		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							105.0	108.0	107.0					1																	100356893		2203	4300	6503	SO:0001583	missense	178	12	121410	45				g.chr1:100356893G>A	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.2930G>A	chr1.hg19:g.100356893G>A	ENSP00000294724:p.Arg977Gln	1					AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q	p.R977Q	NM_000028.2	NP_000019.2	0	1	1	1.827221	P35573	GDE_HUMAN		22	3408	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	1	1	hg19	c.2930G>A	CCDS759.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.44	3.624360	0.66901	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.38838	1.175	0.80722	D	1	P;P;P	0.42649	0.786;0.786;0.681	B;B;B	0.39660	0.306;0.306;0.161	T	0.57505	-0.7800	10	0.13853	T	0.58	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	960;961;977	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	977;977;977;977;961;961;960	ENSP00000355106:R977Q;ENSP00000359184:R977Q;ENSP00000359182:R977Q;ENSP00000294724:R977Q;ENSP00000354971:R961Q;ENSP00000359180:R961Q;ENSP00000354635:R960Q	ENSP00000294724:R977Q	R	+	2	0	0	AGL	100129481	100129481	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.025000	0.49681	2.703000	0.92315	0.579000	0.79373	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.676013	1	0.170000	NM_000028			79	77		303	300	1		1	1		0	0	93	0		1	9.994240e-01	0	20	0	25	0	79	303
SLC35A3	23443	broad.mit.edu	37	1	100464905	100464905	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000370155.3	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000465289.1_Silent_p.G92G|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000370153.1_Silent_p.G134G	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	92					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTCCATCAGGGATCTATACTC	0.299																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3	0.990000	0.590000	9.500000e-01	7.200000e-01	0.840000	0.838519	0.840000	0.910000																										0				11						c.(274-276)ggG>ggT		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							69.0	72.0	71.0					1																	100464905		2202	4279	6481	SO:0001819	synonymous_variant	23443	0	0					g.chr1:100464905G>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.276G>T	chr1.hg19:g.100464905G>T		1					SLC35A3_ENST00000465289.1_Silent_p.G92G|SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|RNU6-1318P_ENST00000365389.1_RNA	p.G92G	NM_012243.1	NP_036375.1	0	1	1	1.827221	Q9Y2D2	S35A3_HUMAN		3	668	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	1	1	hg19	c.276G>T	CCDS762.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.221883	1	0.170000	NM_012243			25	23		263	260	0		1	0		0	0	66	0		9.999998e-01	9.762891e-01	0	1	0	65	0	25	263
SLC35A3	23443	broad.mit.edu	37	1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000370155.3	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000465289.1_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	155					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3	0.990000	0.530000	9.300000e-01	6.600000e-01	0.800000	0.796901	0.800000	0.830000																										0				11						c.(463-465)Cag>Tag		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							97.0	102.0	100.0					1																	100472710		2203	4300	6503	SO:0001587	stop_gained	23443	0	0					g.chr1:100472710C>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.463C>T	chr1.hg19:g.100472710C>T	ENSP00000359174:p.Gln155*	1					SLC35A3_ENST00000465289.1_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR	p.Q155*	NM_012243.1	NP_036375.1	0	1	1	1.827221	Q9Y2D2	S35A3_HUMAN		4	855	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Nonsense_Mutation	SNP	ENST00000370155.3	0	1	hg19	c.463C>T	CCDS762.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.147607	0.97324	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	.	.	.	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9071	18.1433	0.89647	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;155;197;155	.	ENSP00000359172:Q197X	Q	+	1	0	0	SLC35A3	100245298	100245298	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.487000	0.81328	2.292000	0.77174	0.655000	0.94253	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-7.757216	1	0.170000	NM_012243			22	22		255	250	0		1	1		0	0	66	0		9.999988e-01	9.889804e-01	0	2	0	84	0	22	255
HIAT1	64645	broad.mit.edu	37	1	100546193	100546193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100546193G>A	ENST00000370152.3	+	11	1380	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000462159.1_5'Flank	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	415					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)		ACAAACACAAGCCCTCAGCAC	0.408																																						ENST00000370152.3	0.520000	0.240000	4.500000e-01	2.900000e-01	0.360000	0.376957	0.360000	0.360000																										0				16						c.(1243-1245)aGc>aAc		hippocampus abundant transcript 1							172.0	169.0	170.0					1																	100546193		2203	4300	6503	SO:0001583	missense	64645	0	0					g.chr1:100546193G>A	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.1244G>A	chr1.hg19:g.100546193G>A	ENSP00000359171:p.Ser415Asn	1					SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	p.S415N	NM_033055.2	NP_149044.2	0	1	1	1.827221	Q96MC6	HIAT1_HUMAN		11	1380	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	1	1	hg19	c.1244G>A	CCDS763.1	0	.	.	.	.	.	.	.	.	.	.	G	8.672	0.902999	0.17760	.	.	ENSG00000156875	ENST00000370152	T	0.80909	-1.43	5.39	5.39	0.77823	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.796683	0.11231	N	0.585655	T	0.34279	0.0892	N	0.01576	-0.805	0.21220	N	0.999753	B	0.02656	0.0	B	0.04013	0.001	T	0.13388	-1.0511	10	0.11794	T	0.64	-9.2588	11.0974	0.48152	0.0:0.1286:0.7219:0.1495	.	415	Q96MC6	HIAT1_HUMAN	N	415	ENSP00000359171:S415N	ENSP00000359171:S415N	S	+	2	0	0	HIAT1	100318781	100318781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.722000	0.38042	2.534000	0.85438	0.555000	0.69702	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	0	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-3.622521	1	0.170000	NM_033055			24	24		678	667	0		1	1		0	0	170	0		9.999996e-01	9.996944e-01	0	17	0	337	0	24	678
LRRC39	127495	broad.mit.edu	37	1	100624921	100624921	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370137.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370138.1_Silent_p.L90L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353																																						ENST00000370137.1	1.000000	0.920000	1	9.500000e-01	0.980000	0.982566	0.980000	0.990000																										0				13						c.(268-270)ctT>ctG		leucine rich repeat containing 39							104.0	104.0	104.0					1																	100624921		2203	4300	6503	SO:0001819	synonymous_variant	127495	0	0					g.chr1:100624921A>C	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.270T>G	chr1.hg19:g.100624921A>C		1					LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370138.1_Silent_p.L90L	p.L90L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	0	1	1	1.827221	Q96DD0	LRC39_HUMAN		5	468	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	1	1	hg19	c.270T>G	CCDS766.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_144620			77	77		323	318	1		1			0	0	99	0		1	0	0	0	0	0	0	77	323
CDC14A	8556	broad.mit.edu	37	1	100963751	100963751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	ENST00000336454.3	+	14	1764	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	470					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTCGGGTGCCACTGTAAGA	0.468																																						ENST00000336454.3	0.940000	0.530000	8.500000e-01	6.200000e-01	0.730000	0.741046	0.730000	0.730000																										0				31						c.(1408-1410)gCc>gTc		cell division cycle 14A							149.0	139.0	142.0					1																	100963751		2203	4300	6503	SO:0001583	missense	8556	0	0					g.chr1:100963751C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1409C>T	chr1.hg19:g.100963751C>T	ENSP00000336739:p.Ala470Val	1					CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V	p.A470V	NM_003672.3	NP_003663.2	0	1	1	1.827221	Q9UNH5	CC14A_HUMAN		14	1764	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	1	1	hg19	c.1409C>T	CCDS769.1	0	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605482	0.14002	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10668	2.85;2.85;3.07;2.89	5.23	3.36	0.38483	5.23	3.36	0.38483	.	0.679120	0.15124	N	0.279214	T	0.02380	0.0073	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.0;0.001;0.004	T	0.44421	-0.9329	10	0.24483	T	0.36	0.0399	10.4088	0.44280	0.0:0.8468:0.0:0.1532	.	412;470;470;470	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	V	412;470;470;470	ENSP00000442640:A412V;ENSP00000354916:A470V;ENSP00000336739:A470V;ENSP00000442543:A470V	ENSP00000336739:A470V	A	+	2	0	0	CDC14A	100736339	100736339	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.762000	0.47597	0.697000	0.31718	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	0	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-8.552237	1	0.170000	NM_033312			38	38		512	500	0		1	0		0	0	146	0		1	3.645601e-01	0	1	0	17	0	38	512
CDC14A	8556	broad.mit.edu	37	1	100964692	100964692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	543					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562																																						ENST00000336454.3	1.000000	0.770000	9.900000e-01	8.600000e-01	0.940000	0.931789	0.940000	0.990000																										0				31						c.(1627-1629)aaC>aaT		cell division cycle 14A							84.0	88.0	87.0					1																	100964692		2203	4300	6503	SO:0001819	synonymous_variant	8556	2	121412	40				g.chr1:100964692C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1629C>T	chr1.hg19:g.100964692C>T		1					CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000542213.1_Silent_p.N485N	p.N543N	NM_003672.3	NP_003663.2	0	1	1	1.827221	Q9UNH5	CC14A_HUMAN		15	1984	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	1	1	hg19	c.1629C>T	CCDS769.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-15.128760	1	0.170000	NM_033312			39	39		297	287	1		1	0		0	0	68	0		1	5.733384e-01	0	0	0	16	0	39	297
VCAM1	7412	broad.mit.edu	37	1	101190358	101190358	+	Silent	SNP	T	T	C	rs201887131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	280	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393																																						ENST00000294728.2	0.990000	0.550000	9.400000e-01	6.900000e-01	0.820000	0.819131	0.820000	0.880000																										0				56						c.(838-840)gcT>gcC		vascular cell adhesion molecule 1	Carvedilol(DB01136)						94.0	91.0	92.0					1																	101190358		2203	4300	6503	SO:0001819	synonymous_variant	7412	0	0					g.chr1:101190358T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.840T>C	chr1.hg19:g.101190358T>C		1					VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000347652.2_Silent_p.A280A	p.A280A	NM_001078.3	NP_001069.1	0	1	1	1.827221	P19320	VCAM1_HUMAN		4	941	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	1	1	hg19	c.840T>C	CCDS773.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_001078			21	20		227	221	0		1	0		0	0	47	0		9.999974e-01	9.981709e-01	0	0	0	111	0	21	227
VCAM1	7412	broad.mit.edu	37	1	101194700	101194700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	ENST00000294728.2	+	5	1067	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	322	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448																																						ENST00000294728.2	0.560000	0.230000	4.800000e-01	3.000000e-01	0.380000	0.395058	0.380000	0.380000																										0				56						c.(964-966)cgG>cgA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						108.0	113.0	111.0					1																	101194700		2203	4300	6503	SO:0001819	synonymous_variant	7412	0	0					g.chr1:101194700G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.966G>A	chr1.hg19:g.101194700G>A		1					VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R|VCAM1_ENST00000347652.2_Intron	p.R322R	NM_001078.3	NP_001069.1	0	1	1	1.827221	P19320	VCAM1_HUMAN		5	1067	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	1	1	hg19	c.966G>A	CCDS773.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-3.309036	1	0.170000	NM_001078			19	19		514	505	0		1	0		0	0	126	0		9.999893e-01	9.830738e-01	0	1	0	179	0	19	514
EXTL2	2135	broad.mit.edu	37	1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I|EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	156					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)			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)		GTCTGGGGTGCTGATGAGTGT	0.358																																						ENST00000370114.3	1.000000	0.890000	1	9.400000e-01	0.970000	0.974608	0.970000	0.990000																										0				14						c.(466-468)aGc>aTc		exostosin-like glycosyltransferase 2							148.0	136.0	140.0					1																	101342387		2203	4299	6502	SO:0001583	missense	2135	0	0					g.chr1:101342387C>A	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.467G>T	chr1.hg19:g.101342387C>A	ENSP00000359132:p.Ser156Ile	1					EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I|EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I	p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	0	1	1	1.827221	Q9UBQ6	EXTL2_HUMAN		4	1903	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	1	1	hg19	c.467G>T	CCDS775.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351157	0.82132	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	5.85	5.85	0.93711	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88495	0.3078	10	0.51188	T	0.08	-29.5482	20.1572	0.98116	0.0:1.0:0.0:0.0	.	155;156	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	156;156;143;164	ENSP00000359132:S156I;ENSP00000359131:S156I;ENSP00000444385:S143I;ENSP00000403363:S164I	ENSP00000359131:S156I	S	-	2	0	0	EXTL2	101114975	101114975	1.000000	0.71417	0.977000	0.42913	0.534000	0.34807	7.388000	0.79795	2.762000	0.94881	0.650000	0.86243	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.374323	1	0.170000	NM_001439			60	58		285	276	1		1	0		0	0	81	0		1	9.957232e-01	0	0	0	42	0	60	285
EXTL2	2135	broad.mit.edu	37	1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D|EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	88					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)			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)		ATTTGGTACAGCCTGATAATG	0.418																																						ENST00000370114.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.941085	0.950000	0.990000																										0				14						c.(262-264)gCt>gAt		exostosin-like glycosyltransferase 2							139.0	139.0	139.0					1																	101343202		2203	4300	6503	SO:0001583	missense	2135	0	0					g.chr1:101343202G>T	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.263C>A	chr1.hg19:g.101343202G>T	ENSP00000359132:p.Ala88Asp	1					EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D|EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D	p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	0	1	1	1.827221	Q9UBQ6	EXTL2_HUMAN		3	1699	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	1	1	hg19	c.263C>A	CCDS775.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959892	0.92791	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.61	5.61	0.85477	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	D	0.85227	0.1030	10	0.54805	T	0.06	-22.5163	20.0018	0.97417	0.0:0.0:1.0:0.0	.	88;88	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	D	88;88;75;96;75	ENSP00000359132:A88D;ENSP00000359131:A88D;ENSP00000444385:A75D;ENSP00000403363:A96D;ENSP00000392255:A75D	ENSP00000359131:A88D	A	-	2	0	0	EXTL2	101115790	101115790	1.000000	0.71417	0.963000	0.40424	0.825000	0.46686	6.182000	0.71995	2.793000	0.96121	0.655000	0.94253	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	0	0	1		16	3	2	1		1	1	97		97	95	1	2.060000	-18.500650	1	0.170000	NM_001439			49	49		379	373	1		1	0		1	0	97	0		9.999950e-01	8.689895e-01	0	0	0	42	0	49	379
SLC30A7	148867	broad.mit.edu	37	1	101377772	101377772	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	163	His-rich loop.				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)			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)		AACATGGAGGTCATGGACATT	0.378																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.979191	0.980000	0.990000																										0				15						c.(487-489)ggT>ggC		solute carrier family 30 (zinc transporter), member 7							227.0	213.0	218.0					1																	101377772		2203	4300	6503	SO:0001819	synonymous_variant	148867	0	0					g.chr1:101377772T>C	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.489T>C	chr1.hg19:g.101377772T>C		1					SLC30A7_ENST00000357650.4_Silent_p.G163G	p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	0	1	1	1.827221	Q8NEW0	ZNT7_HUMAN		5	676	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	1	1	hg19	c.489T>C	CCDS776.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	1	0	1		2	2	2	0		0	0	190		190	190	1	2.060000	-20.000000	1	0.170000	NM_133496			114	114		768	750	1		1	1		0	0	190	0		1	9.835407e-01	0	9	0	36	0	114	768
C1orf159	54991	broad.mit.edu	37	1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000379339.1	-	9	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	153						integral component of membrane (GO:0016021)						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)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627																																						ENST00000379339.1	0.990000	0.530000	9.400000e-01	6.700000e-01	0.820000	0.810172	0.820000	0.880000																										0										c.(457-459)Ttc>Ctc		chromosome 1 open reading frame 159							63.0	63.0	63.0					1																	1021354		2203	4300	6503	SO:0001583	missense	54991	0	0					g.chr1:1021354A>G	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.457T>C	chr1.hg19:g.1021354A>G	ENSP00000368644:p.Phe153Leu	1					C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L	p.F153L			0	1	1	1.838767	Q96HA4	CA159_HUMAN		9	667	-	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)	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	1	1	hg19	c.457T>C		0	.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063333	0.07273	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	0.953	0.19590	4.71	0.953	0.19590	.	0.327541	0.30392	N	0.009729	T	0.16342	0.0393	N	0.05574	-0.02	0.23435	N	0.997682	B;B;B;B;B	0.25772	0.004;0.134;0.003;0.035;0.004	B;B;B;B;B	0.28139	0.004;0.086;0.006;0.086;0.004	T	0.23511	-1.0186	9	0.23302	T	0.38	-0.9141	7.575	0.27931	0.5555:0.0:0.4445:0.0	.	117;153;117;117;117	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	L	153;153;117;117;117;117;117;128;117	.	ENSP00000294576:F117L	F	-	1	0	0	C1orf159	1011217	1011217	0.906000	0.30813	0.004000	0.12327	0.027000	0.11550	1.415000	0.34748	-0.073000	0.12842	0.402000	0.26972	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.999350	1	0.170000	NM_017891			17	17		181	176	0		1	1		0	0	41	0		9.999653e-01	2.948341e-01	0	3	0	9	0	17	181
UBE4B	10277	broad.mit.edu	37	1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000253251.8	+	17	2868	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T					ubiquitination factor E4B											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)		TTCCCCACTGGCAACTAGACA	0.378																																						ENST00000253251.8	0.990000	0.540000	9.400000e-01	6.800000e-01	0.820000	0.816509	0.820000	0.890000																										0				48						c.(2029-2031)Gca>Aca		ubiquitination factor E4B							75.0	73.0	74.0					1																	10205050		2203	4300	6503	SO:0001583	missense	10277	0	0					g.chr1:10205050G>A	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.2029G>A	chr1.hg19:g.10205050G>A	ENSP00000253251:p.Ala677Thr	1					UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T	p.A677T			0	1	1	1.838767				17	2868	+		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)		Missense_Mutation	SNP	ENST00000253251.8	1	1	hg19	c.2029G>A	CCDS110.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.958480	0.97145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.76	5.83	5.83	0.93111	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.986;0.977;0.975	T	0.77178	-0.2683	10	0.59425	D	0.04	-15.8352	20.1047	0.97888	0.0:0.0:1.0:0.0	.	677;806;677	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	677;561;806	ENSP00000253251:A677T;ENSP00000366362:A561T;ENSP00000343001:A806T	ENSP00000253251:A677T	A	+	1	0	0	UBE4B	10127637	10127637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-19.999990	1	0.170000	NM_006048			19	19		203	200	1		1	1		0	0	51	0		9.999916e-01	9.556080e-01	0	11	0	47	0	19	203
UBE4B	10277	broad.mit.edu	37	1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000253251.8	+	26	4216	c.3377G>A	c.(3376-3378)cGc>cAc	p.R1126H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H|UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H					ubiquitination factor E4B									p.R1126H(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)		ATCATGGACCGCTCCATCATC	0.597																																						ENST00000253251.8	1.000000	0.820000	9.900000e-01	9.000000e-01	0.950000	0.950758	0.950000	0.990000																										1	Substitution - Missense(1)	p.R1126H(1)	large_intestine(1)	48						c.(3376-3378)cGc>cAc		ubiquitination factor E4B							80.0	82.0	81.0					1																	10239537		2203	4300	6503	SO:0001583	missense	10277	1	121412	31				g.chr1:10239537G>A	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.3377G>A	chr1.hg19:g.10239537G>A	ENSP00000253251:p.Arg1126His	1					UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H	p.R1126H			0	1	1	1.838767				26	4216	+		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)		Missense_Mutation	SNP	ENST00000253251.8	1	1	hg19	c.3377G>A	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.084238	0.97267	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.71222	-0.55;-0.45;-0.5	5.78	5.78	0.91487	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.94035	0.7304	10	0.87932	D	0	-18.2393	19.9987	0.97401	0.0:0.0:1.0:0.0	.	1255;1126	O95155;O95155-2	UBE4B_HUMAN;.	H	1126;1014;1255	ENSP00000253251:R1126H;ENSP00000366362:R1014H;ENSP00000343001:R1255H	ENSP00000253251:R1126H	R	+	2	0	0	UBE4B	10162124	10162124	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.819000	0.99357	2.738000	0.93877	0.591000	0.81541	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-19.995890	1	0.170000	NM_006048			66	64		524	512	1		1	1		0	0	129	0		1	9.998946e-01	0	20	0	86	0	66	524
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000427040.2_5'UTR|AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000488176.1_Silent_p.A227A	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			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)		TCTGGTCGTCGGCTCCAACCC	0.448																																						ENST00000370109.3	1.000000	0.890000	1	9.400000e-01	0.970000	0.973988	0.970000	0.990000																										0				7						c.(679-681)gcC>gcT		diphthamide biosynthesis 5							93.0	91.0	92.0					1																	101456141		1972	4145	6117	SO:0001819	synonymous_variant	51611	0	0					g.chr1:101456141G>A	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.681C>T	chr1.hg19:g.101456141G>A		1					DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A|AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A	p.A227A	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	0	1	1	1.827221	Q9H2P9	DPH5_HUMAN		8	793	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	1	0	hg19	c.681C>T	CCDS41358.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.107644	1	0.170000	NM_015958			54	52		231	224	1		1	1		0	0	65	0		1	9.999998e-01	0	24	0	77	0	54	231
COL11A1	1301	broad.mit.edu	37	1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000370096.3	-	66	5510	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1733	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1745P(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)		TCCCAGGAAGCGAAGTGCTTT	0.433																																						ENST00000370096.3	0.970000	0.520000	8.900000e-01	6.300000e-01	0.760000	0.768496	0.760000	0.770000																										1	Substitution - Missense(1)	p.R1745P(1)	stomach(1)	258						c.(5197-5199)cGc>cAc		collagen, type XI, alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406	4.2+/-10.8	0,0,2203	167.0	150.0	156.0		4850,5234,5198,5081	5.5	1.0	1	dbSNP_134	156	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	COL11A1	NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1	29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign	1617/1691,1745/1819,1733/1807,1694/1768	103345315	3,13003	2203	4300	6503	SO:0001583	missense	1301	53	121410	51				g.chr1:103345315C>T	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.5198G>A	chr1.hg19:g.103345315C>T	ENSP00000359114:p.Arg1733His	1					COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H	p.R1733H	NM_001854.3	NP_001845.3	0	1	1	1.827221	P12107	COBA1_HUMAN		66	5510	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	1	1	hg19	c.5198G>A	CCDS778.1	0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325201	0.81580	0.0	3.49E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.52	5.52	0.82312	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.057950	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64567	1.98	0.58432	D	0.999994	B;B;B;B;B	0.25719	0.132;0.108;0.108;0.132;0.025	B;B;B;B;B	0.22386	0.039;0.023;0.023;0.039;0.011	T	0.65245	-0.6215	10	0.51188	T	0.08	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	1617;1694;1745;1733;953	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1733;1745;1694;953;1617	ENSP00000359114:R1733H;ENSP00000351163:R1745H;ENSP00000302551:R1694H;ENSP00000426533:R1617H	ENSP00000302551:R1694H	R	-	2	0	0	COL11A1	103117903	103117903	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	6.009000	0.70745	2.747000	0.94245	0.591000	0.81541	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-8.041330	1	0.170000	NM_080630			27	27		341	337	0		1	0		0	0	72	0		1	9.999969e-01	0	0	0	257	0	27	341
COL11A1	1301	broad.mit.edu	37	1	103496747	103496747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	ENST00000370096.3	-	5	1017	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	235	Laminin G-like.|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)			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)		AATGCTCACAGTAGTCATATG	0.453																																						ENST00000370096.3	1.000000	0.850000	1	9.200000e-01	0.960000	0.961918	0.960000	0.990000																										0				258						c.(703-705)taC>taA		collagen, type XI, alpha 1							104.0	92.0	97.0					1																	103496747		2203	4300	6503	SO:0001587	stop_gained	1301	0	0					g.chr1:103496747G>T	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.705C>A	chr1.hg19:g.103496747G>T	ENSP00000359114:p.Tyr235*	1					COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*	p.Y235*	NM_001854.3	NP_001845.3	0	1	1	1.827221	P12107	COBA1_HUMAN		5	1017	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	0	1	hg19	c.705C>A	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.717392	0.97784	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	.	.	.	5.59	4.67	0.58626	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.568	0.33552	0.1728:0.0:0.8272:0.0	.	.	.	.	X	235;235;235;235;235;162	.	ENSP00000302551:Y235X	Y	-	3	2	2	COL11A1	103269335	103269335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.964000	0.70379	2.631000	0.89168	0.551000	0.68910	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	0	0	1		20	24	2	1		1	1	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_080630			35	33		137	135	0		1	0		1	0	23	0		9.877486e-01	9.936919e-01	0	0	0	209	0	35	137
KIF1B	23095	broad.mit.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T|KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					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.A897T(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)		CGTGGATGACGCCGGCTCTGA	0.547																																						ENST00000377086.1	1.000000	0.940000	1	9.700000e-01	0.980000	0.990056	0.980000	0.990000																										1	Substitution - Missense(1)	p.A897T(1)	large_intestine(1)	71						c.(2827-2829)Gcc>Acc		kinesin family member 1B		G	THR/ALA	0,4406		0,0,2203	138.0	122.0	127.0		2689	3.2	1.0	1	dbSNP_134	127	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIF1B	NM_015074.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	897/1771	10386320	4,13002	2203	4300	6503	SO:0001583	missense	23095	12	121412	47				g.chr1:10386320G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2827G>A	chr1.hg19:g.10386320G>A	ENSP00000366290:p.Ala943Thr	1					KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T|KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T	p.A943T			0	1	1	1.838767	O60333	KIF1B_HUMAN		27	3029	+	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)	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	1	1	hg19	c.2827G>A		1	.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	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	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	0	KIF1B	10308907	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.201400	1	0.170000				115	110		429	421	1		1	0		0	0	118	0		1	4.544267e-02	0	0	0	2	0	115	429
KIF1B	23095	broad.mit.edu	37	1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377086.1	+	38	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V			O60333	KIF1B_HUMAN	kinesin family member 1B	1332					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438																																						ENST00000377086.1	1.000000	0.910000	1	9.500000e-01	0.980000	0.981416	0.980000	0.990000																										0				71						c.(3994-3996)gCc>gTc		kinesin family member 1B							190.0	186.0	187.0					1																	10412734		2203	4300	6503	SO:0001583	missense	23095	0	0					g.chr1:10412734C>T	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.3995C>T	chr1.hg19:g.10412734C>T	ENSP00000366290:p.Ala1332Val	1					KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V	p.A1332V			0	1	1	1.838767	O60333	KIF1B_HUMAN		38	4197	+	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)	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	1	1	hg19	c.3995C>T		1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414574	0.83449	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.053671	0.64402	D	0.000001	T	0.69287	0.3094	N	0.16656	0.425	0.58432	D	0.999998	B;P;P;P;B;P	0.46327	0.018;0.728;0.873;0.876;0.101;0.621	B;B;P;P;B;B	0.54026	0.032;0.245;0.585;0.74;0.096;0.404	T	0.65240	-0.6216	10	0.23302	T	0.38	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1318;1292;1332;1306;1332;1286	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1332;1286;1332;1332	ENSP00000263934:A1286V;ENSP00000366290:A1332V;ENSP00000366284:A1332V	ENSP00000263934:A1286V	A	+	2	0	0	KIF1B	10335321	10335321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				74	74		318	313	1		1	1		0	0	75	0		1	9.879204e-01	0	6	0	26	0	74	318
COL11A1	1301	broad.mit.edu	37	1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000370096.3	-	3	698	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	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)			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)		CCCAACCTCAACACCAATTTG	0.393																																						ENST00000370096.3	1.000000	0.880000	1	9.400000e-01	0.970000	0.972355	0.970000	0.990000																										0				258						c.(385-387)gTt>gGt		collagen, type XI, alpha 1							75.0	79.0	78.0					1																	103544316		2203	4300	6503	SO:0001583	missense	1301	0	0					g.chr1:103544316A>C	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.386T>G	chr1.hg19:g.103544316A>C	ENSP00000359114:p.Val129Gly	1					COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G	p.V129G	NM_001854.3	NP_001845.3	0	1	1	1.827221	P12107	COBA1_HUMAN		3	698	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	1	1	hg19	c.386T>G	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684905	0.68157	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.53	5.53	0.82687	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.86573	2.825	0.80722	D	1	P;D;D;D	0.58970	0.815;0.98;0.98;0.984	P;P;P;P	0.54815	0.583;0.649;0.649;0.761	T	0.00942	-1.1506	10	0.87932	D	0	.	15.6579	0.77158	1.0:0.0:0.0:0.0	.	129;129;129;129	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	129;129;129;129;129;56	ENSP00000359114:V129G;ENSP00000351163:V129G;ENSP00000302551:V129G;ENSP00000426533:V129G;ENSP00000408640:V129G;ENSP00000410177:V56G	ENSP00000302551:V129G	V	-	2	0	0	COL11A1	103316904	103316904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.107000	0.64212	0.533000	0.62120	GTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_080630			49	48		198	194	1		1	0		0	0	48	0		1	1	0	0	0	111	0	49	198
PGD	5226	broad.mit.edu	37	1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000270776.8	+	8	873	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_ENST00000538557.1_Missense_Mutation_p.T266A|PGD_ENST00000541529.1_Missense_Mutation_p.T257A	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	279					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGTACCCGTCACCCTCATTGG	0.537																																						ENST00000270776.8	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.916332	0.920000	0.990000																										0				14						c.(835-837)Acc>Gcc		phosphogluconate dehydrogenase	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)						85.0	67.0	73.0					1																	10473299		2203	4300	6503	SO:0001583	missense	5226	0	0					g.chr1:10473299A>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.835A>G	chr1.hg19:g.10473299A>G	ENSP00000270776:p.Thr279Ala	1					PGD_ENST00000541529.1_Missense_Mutation_p.T257A|PGD_ENST00000538557.1_Missense_Mutation_p.T266A	p.T279A	NM_002631.2	NP_002622.2	0	1	1	1.838767	P52209	6PGD_HUMAN		8	873	+	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)	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	1	1	hg19	c.835A>G	CCDS113.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724706	0.89298	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.91090	3.175	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	0.79424	-0.1809	10	0.87932	D	0	-26.9004	15.1463	0.72653	1.0:0.0:0.0:0.0	.	257;279;279	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	A	257;225;279;266	ENSP00000442285:T257A;ENSP00000270776:T279A;ENSP00000437822:T266A	ENSP00000270776:T279A	T	+	1	0	0	PGD	10395886	10395886	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.224000	0.95209	2.043000	0.60533	0.519000	0.50382	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_002631			29	29		219	217	1		1	1		0	0	46	0		1	1	0	110	0	479	0	29	219
PEX14	5195	broad.mit.edu	37	1	10689807	10689807	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	ENST00000356607.4	+	9	977	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_ENST00000538836.1_Silent_p.G235G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	299					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGAAGGCGAGGGGGTGG	0.657																																						ENST00000356607.4	1.000000	0.700000	9.900000e-01	8.300000e-01	0.930000	0.912843	0.930000	0.990000																										0				13						c.(895-897)ggC>ggT		peroxisomal biogenesis factor 14							126.0	116.0	119.0					1																	10689807		2191	4290	6481	SO:0001819	synonymous_variant	5195	3	120676	35				g.chr1:10689807C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.897C>T	chr1.hg19:g.10689807C>T		1					PEX14_ENST00000538836.1_Silent_p.G235G	p.G299G	NM_004565.2	NP_004556.1	0	1	1	1.838767	O75381	PEX14_HUMAN		9	977	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	1	1	hg19	c.897C>T	CCDS30582.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-11.739900	1	0.170000				14	14		55	54	1		1	1		0	0	12	0		9.998461e-01	9.999404e-01	0	16	0	61	0	14	55
PEX14	5195	broad.mit.edu	37	1	10689966	10689966	+	Silent	SNP	C	C	T	rs372035480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	352					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672																																						ENST00000356607.4	1.000000	0.920000	1	9.600000e-01	0.980000	0.982953	0.980000	0.990000																										0				13						c.(1054-1056)ggC>ggT		peroxisomal biogenesis factor 14		C		0,4406		0,0,2203	154.0	165.0	162.0		1056	-4.7	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX14	NM_004565.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		352/378	10689966	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5195	0	0					g.chr1:10689966C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1056C>T	chr1.hg19:g.10689966C>T		1					PEX14_ENST00000538836.1_Silent_p.G288G	p.G352G	NM_004565.2	NP_004556.1	0	1	1	1.838767	O75381	PEX14_HUMAN		9	1136	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	1	1	hg19	c.1056C>T	CCDS30582.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				67	64		213	203	1		1	1		0	0	32	0		1	9.989633e-01	0	14	0	21	0	67	213
CASZ1	54897	broad.mit.edu	37	1	10699493	10699493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10699493C>T	ENST00000377022.3	-	21	5103	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1596					multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCCTGCTTCTCGTGCTTGCGC	0.701																																						ENST00000377022.3	0.990000	0.450000	9.500000e-01	6.400000e-01	0.820000	0.802814	0.820000	0.990000																										0				54						c.(4786-4788)Gag>Aag		castor zinc finger 1							14.0	18.0	17.0					1																	10699493		1970	4146	6116	SO:0001583	missense	54897	0	0					g.chr1:10699493C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4786G>A	chr1.hg19:g.10699493C>T	ENSP00000366221:p.Glu1596Lys	1					RP4-734G22.3_ENST00000606802.1_RNA	p.E1596K	NM_001079843.2	NP_001073312.1	0	1	1	1.838767	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	21	5103	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	0	1	hg19	c.4786G>A	CCDS41246.1	0	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625625	0.46840	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.1	3.17	0.36434	4.1	3.17	0.36434	.	0.000000	0.44285	U	0.000477	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	D	0.55172	0.97	B	0.39805	0.31	T	0.08973	-1.0696	9	0.46703	T	0.11	-3.7018	12.0567	0.53540	0.0:0.9135:0.0:0.0865	.	1596	Q86V15	CASZ1_HUMAN	K	1596	.	ENSP00000366221:E1596K	E	-	1	0	0	CASZ1	10622080	10622080	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	5.532000	0.67154	0.835000	0.34877	0.195000	0.17529	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.800970	1	0.170000	NM_017766			7	7		52	51	0		1	1		0	0	9	0		9.817485e-01	9.160875e-02	0	2	0	2	0	7	52
CASZ1	54897	broad.mit.edu	37	1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T	rs201455408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	599					multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20415	0.0		0.001	False		,,,				2504	0.0					ENST00000377022.3	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.921534	0.930000	0.990000																										0				54						c.(1795-1797)Gac>Aac		castor zinc finger 1							144.0	128.0	134.0					1																	10714519		2203	4300	6503	SO:0001583	missense	54897	1	121412	39				g.chr1:10714519C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1795G>A	chr1.hg19:g.10714519C>T	ENSP00000366221:p.Asp599Asn	1					RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	p.D599N	NM_001079843.2	NP_001073312.1	0	1	1	1.838767	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	10	2112	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	1	1	hg19	c.1795G>A	CCDS41246.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.40	3.821316	0.71028	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.194076	0.53938	D	0.000050	T	0.56514	0.1990	N	0.12746	0.255	0.45464	D	0.998434	P;D;D	0.62365	0.851;0.981;0.991	B;P;P	0.57911	0.147;0.481;0.829	T	0.62139	-0.6917	9	0.44086	T	0.13	-42.6794	18.4056	0.90535	0.0:1.0:0.0:0.0	.	623;599;599	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	599	.	ENSP00000339445:D599N	D	-	1	0	0	CASZ1	10637106	10637106	1.000000	0.71417	0.942000	0.38095	0.790000	0.44656	4.571000	0.60879	2.421000	0.82119	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1		2	2	2	0		0	0	85		85	82	1	2.060000	-15.352820	1	0.170000	NM_017766			44	44		377	376	1		1	1		0	0	85	0		1	7.524674e-01	0	10	0	15	0	44	377
CASZ1	54897	broad.mit.edu	37	1	10720073	10720073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	342					multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587																																						ENST00000377022.3	1.000000	0.960000	1	9.800000e-01	0.990000	0.993938	0.990000	1.000000																										0				54						c.(1024-1026)gaG>gaA		castor zinc finger 1							81.0	85.0	83.0					1																	10720073		2203	4300	6503	SO:0001819	synonymous_variant	54897	0	0					g.chr1:10720073C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1026G>A	chr1.hg19:g.10720073C>T		1					CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.E342E	p.E342E	NM_001079843.2	NP_001073312.1	0	1	1	1.838767	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	6	1343	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	1	1	hg19	c.1026G>A	CCDS41246.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_017766			164	163		575	568	1		1	1		0	0	133	0		1	9.799925e-01	0	15	0	9	0	164	575
CASZ1	54897	broad.mit.edu	37	1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A	rs376050510		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	78					multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)	p.R78H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701																																						ENST00000377022.3	1.000000	0.950000	1	9.700000e-01	0.990000	0.992401	0.990000	0.990000																										1	Substitution - Missense(1)	p.R78H(1)	large_intestine(1)	54						c.(232-234)cGc>cTc		castor zinc finger 1							43.0	53.0	49.0					1																	10725412		2123	4218	6341	SO:0001583	missense	54897	0	0					g.chr1:10725412C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.233G>T	chr1.hg19:g.10725412C>A	ENSP00000366221:p.Arg78Leu	1					CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	p.R78L	NM_001079843.2	NP_001073312.1	0	1	1	1.838767	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	5	550	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	1	1	hg19	c.233G>T	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463829	0.43736	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	4.42	4.42	0.53409	.	0.203933	0.32314	N	0.006272	T	0.24890	0.0604	N	0.04508	-0.205	0.30057	N	0.811243	B;B;B	0.26512	0.002;0.151;0.002	B;B;B	0.25987	0.002;0.065;0.002	T	0.14309	-1.0477	9	0.37606	T	0.19	-17.2461	17.4322	0.87542	0.0:1.0:0.0:0.0	.	102;78;78	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	78	.	ENSP00000339445:R78L	R	-	2	0	0	CASZ1	10647999	10647999	0.750000	0.28316	0.996000	0.52242	0.941000	0.58515	0.655000	0.24933	2.191000	0.70037	0.511000	0.50034	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-4.799030	1	0.170000	NM_017766			130	130		407	397	1		1	1		0	0	80	0		1	6.804703e-01	0	4	0	5	0	130	407
AMY2A	279	broad.mit.edu	37	1	104160181	104160181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:104160181C>T	ENST00000414303.2	+	1	183	c.119C>T	c.(118-120)gCt>gTt	p.A40V		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	40					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)			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)	GTTGATATTGCTCTTGAATGT	0.438																																						ENST00000414303.2	0.440000	0.190000	3.700000e-01	2.400000e-01	0.290000	0.310013	0.290000	0.300000																										0				22						c.(118-120)gCt>gTt		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)						232.0	193.0	206.0					1																	104160181		2201	4279	6480	SO:0001583	missense	279	0	0					g.chr1:104160181C>T	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.119C>T	chr1.hg19:g.104160181C>T	ENSP00000397582:p.Ala40Val	1						p.A40V	NM_000699.2	NP_000690.1	0	1	1	1.827221	P04746	AMYP_HUMAN		1	183	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	0	1	hg19	c.119C>T	CCDS783.1	0	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039061	0.75617	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	3.22	3.22	0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91673	0.5352	9	0.87932	D	0	.	14.5293	0.67912	0.0:1.0:0.0:0.0	.	40;40	B9EJG1;P04746	.;AMYP_HUMAN	V	40	.	ENSP00000377509:A40V	A	+	2	0	0	AMY2A	103961704	103961704	1.000000	0.71417	0.990000	0.47175	0.742000	0.42306	7.069000	0.76755	1.784000	0.52394	0.455000	0.32223	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	0	0	1		2	2	2	0		0	0	237		237	301	1	2.060000	-3.312661	1	0.170000	NM_000699			21	13		731	409	0		1	0		0	0	237	0		9.995463e-01	9.789979e-01	0	0	0	218	0	21	731
PRMT6	55170	broad.mit.edu	37	1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000370078.1	+	1	323	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	96	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692																																						ENST00000370078.1	1.000000	0.920000	1	9.500000e-01	0.980000	0.982158	0.980000	0.990000																										0				14						c.(286-288)Ctg>Atg		protein arginine methyltransferase 6							30.0	37.0	35.0					1																	107599623		1992	4149	6141	SO:0001583	missense	55170	0	0					g.chr1:107599623C>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.286C>A	chr1.hg19:g.107599623C>A	ENSP00000359095:p.Leu96Met	1					PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M	p.L96M			0	1	1	1.802888	Q96LA8	ANM6_HUMAN		1	323	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	1	1	hg19	c.286C>A	CCDS41360.2	1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363843	0.24684	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.63580	-0.05;-0.05	5.11	4.2	0.49525	5.11	4.2	0.49525	.	0.000000	0.64402	D	0.000006	T	0.70736	0.3258	M	0.82630	2.6	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.65697	-0.6105	10	0.66056	D	0.02	-18.3037	11.3452	0.49556	0.0:0.9125:0.0:0.0875	.	96	Q96LA8	ANM6_HUMAN	M	37;96	ENSP00000355145:L37M;ENSP00000359095:L96M	ENSP00000355145:L37M	L	+	1	2	2	PRMT6	107401146	107401146	0.703000	0.27826	0.025000	0.17156	0.002000	0.02628	1.276000	0.33156	1.377000	0.46286	0.544000	0.68410	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	1	0	1		2	2	2	0		0	0	56		56	53	1	2.060000	-20.000000	1	0.170000	NM_018137			64	62		201	196	1		1	1		0	0	56	0		1	9.791879e-01	0	6	0	16	0	64	201
NTNG1	22854	broad.mit.edu	37	1	107973466	107973466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	394	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443																																						ENST00000370068.1	0.990000	0.500000	9.400000e-01	6.500000e-01	0.810000	0.801662	0.810000	0.910000																										0				37						c.(1180-1182)caG>caA		netrin G1							122.0	107.0	111.0					1																	107973466		1568	3582	5150	SO:0001819	synonymous_variant	22854	2	120502	33				g.chr1:107973466G>A	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.1182G>A	chr1.hg19:g.107973466G>A		1					NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370071.2_Intron	p.Q394Q			0	1	1	1.802888	Q9Y2I2	NTNG1_HUMAN		6	2028	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	1	1	hg19	c.1182G>A	CCDS44180.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-18.677460	1	0.170000	NM_014917			13	13		133	133	0		1			0	0	31	0		9.996143e-01	0	0	0	0	0	0	13	133
SLC25A24	29957	broad.mit.edu	37	1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)		CCCAGAGGGATGCCCAGGTTC	0.721																																						ENST00000565488.1	1.000000	0.520000	9.600000e-01	6.900000e-01	0.850000	0.830801	0.850000	0.990000																										0				16						c.(157-159)Atc>Gtc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							16.0	21.0	19.0					1																	108742604		1991	4137	6128	SO:0001583	missense	29957	0	0					g.chr1:108742604T>C	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.157A>G	chr1.hg19:g.108742604T>C	ENSP00000457733:p.Ile53Val	1					RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	p.I53V	NM_013386.4	NP_037518.3	0	1	1	1.802888	Q6NUK1	SCMC1_HUMAN		1	376	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	0	1	hg19	c.157A>G	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468702	0.12461	.	.	ENSG00000085491	ENST00000264128	T	0.70986	-0.53	4.65	-4.12	0.03916	4.65	-4.12	0.03916	EF-hand-like domain (1);	0.297147	0.35739	N	0.003005	T	0.16769	0.0403	N	0.05510	-0.035	0.37003	D	0.895344	B	0.02656	0.0	B	0.04013	0.001	T	0.02498	-1.1150	10	0.10902	T	0.67	-3.313	3.5207	0.07741	0.3651:0.2173:0.0:0.4176	.	53	Q6NUK1	SCMC1_HUMAN	V	53	ENSP00000264128:I53V	ENSP00000264128:I53V	I	-	1	0	0	SLC25A24	108544127	108544127	0.987000	0.35691	0.827000	0.32855	0.003000	0.03518	-0.083000	0.11286	-0.563000	0.06078	-0.714000	0.03626	ATC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.721	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-17.423870	1	0.170000	NM_013386			10	10		78	77	0		1	1		0	0	17	0		9.972832e-01	9.969368e-01	0	13	0	71	0	10	78
PRPF38B	55119	broad.mit.edu	37	1	109235385	109235385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109235385C>A	ENST00000370025.4	+	1	441	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCATGAACCTCAACCCCAT	0.597																																						ENST00000370025.4	0.390000	0.110000	3.100000e-01	1.600000e-01	0.220000	0.239205	0.220000	0.220000																										0				19						c.(172-174)Ctc>Atc		pre-mRNA processing factor 38B							127.0	89.0	102.0					1																	109235385		2203	4300	6503	SO:0001583	missense	55119	0	0					g.chr1:109235385C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.172C>A	chr1.hg19:g.109235385C>A	ENSP00000359042:p.Leu58Ile	1					PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I|PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000467302.1_3'UTR	p.L58I	NM_018061.2	NP_060531.2	0	1	1	1.802888	Q5VTL8	PR38B_HUMAN		1	441	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	0	1	hg19	c.172C>A	CCDS788.1	0	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237343	0.79800	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.71	0.32032	5.64	2.71	0.32032	.	0.118753	0.64402	D	0.000017	T	0.55593	0.1930	M	0.77103	2.36	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.55211	-0.8176	9	0.31617	T	0.26	.	9.7049	0.40209	0.2528:0.6814:0.0:0.0658	.	58	Q5VTL8	PR38B_HUMAN	I	58	.	ENSP00000359039:L58I	L	+	1	0	0	PRPF38B	109036908	109036908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.724000	0.61972	0.304000	0.22809	0.462000	0.41574	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-4.043116	1	0.170000	NM_018061			9	9		429	426	0		1	1		0	0	87	0		9.941415e-01	5.316318e-01	0	6	0	75	0	9	429
PRPF38B	55119	broad.mit.edu	37	1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370025.4	+	6	1066	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S155Y	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	266	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCAAGGAGATCTCTGAGTCCA	0.408																																						ENST00000370025.4	0.640000	0.250000	5.400000e-01	3.300000e-01	0.420000	0.438809	0.420000	0.420000																										0				19						c.(796-798)tCt>tAt		pre-mRNA processing factor 38B							56.0	61.0	59.0					1																	109241798		2203	4300	6503	SO:0001583	missense	55119	0	0					g.chr1:109241798C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.797C>A	chr1.hg19:g.109241798C>A	ENSP00000359042:p.Ser266Tyr	1					PRPF38B_ENST00000370021.1_Missense_Mutation_p.S155Y	p.S266Y	NM_018061.2	NP_060531.2	0	1	1	1.802888	Q5VTL8	PR38B_HUMAN		6	1066	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	1	1	hg19	c.797C>A	CCDS788.1	0	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552818	0.65425	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14516	4.11;2.5	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.122294	0.56097	D	0.000029	T	0.15696	0.0378	L	0.29908	0.895	0.58432	D	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.01472	-1.1346	10	0.66056	D	0.02	.	19.5074	0.95125	0.0:1.0:0.0:0.0	.	266	Q5VTL8	PR38B_HUMAN	Y	266;155	ENSP00000359042:S266Y;ENSP00000359038:S155Y	ENSP00000359038:S155Y	S	+	2	0	0	PRPF38B	109043321	109043321	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.283000	0.65621	2.698000	0.92095	0.591000	0.81541	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.192340	1	0.170000	NM_018061			16	16		389	383	0		1	1		0	0	96	0		9.999283e-01	9.807491e-01	0	6	0	154	0	16	389
PRPF38B	55119	broad.mit.edu	37	1	109241961	109241961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370025.4	+	6	1229	c.960T>C	c.(958-960)agT>agC	p.S320S	PRPF38B_ENST00000370021.1_Silent_p.S209S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	320	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502																																						ENST00000370025.4	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.946922	0.950000	0.990000																										0				19						c.(958-960)agT>agC		pre-mRNA processing factor 38B							88.0	88.0	88.0					1																	109241961		2203	4300	6503	SO:0001819	synonymous_variant	55119	0	0					g.chr1:109241961T>C	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.960T>C	chr1.hg19:g.109241961T>C		1					PRPF38B_ENST00000370021.1_Silent_p.S209S	p.S320S	NM_018061.2	NP_060531.2	0	1	1	1.802888	Q5VTL8	PR38B_HUMAN		6	1229	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	1	1	hg19	c.960T>C	CCDS788.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	1		15	10	2	1		1	1	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_018061			53	53		401	398	1		1	1		1	0	107	0		9.999997e-01	9.999470e-01	0	39	0	219	0	53	401
AKNAD1	254268	broad.mit.edu	37	1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	172						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423																																						ENST00000370001.3	1.000000	0.950000	1	9.700000e-01	0.980000	0.990835	0.980000	0.990000																										0				32						c.(514-516)Ctc>Ttc		AKNA domain containing 1							62.0	64.0	63.0					1																	109394773		2202	4295	6497	SO:0001583	missense	254268	0	0					g.chr1:109394773G>A	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.514C>T	chr1.hg19:g.109394773G>A	ENSP00000359018:p.Leu172Phe	1					AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron	p.L172F	NM_152763.4	NP_689976.2	0	1	1	1.802888	Q5T1N1	AKND1_HUMAN		2	782	-			B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	1	1	hg19	c.514C>T	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511189	0.44660	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09817	2.96;2.99;2.94	5.77	0.065	0.14355	5.77	0.065	0.14355	.	0.955217	0.08711	N	0.904928	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.30326	0.276	B	0.30572	0.117	T	0.44205	-0.9343	10	0.31617	T	0.26	-0.2122	2.1848	0.03883	0.1509:0.3045:0.3494:0.1952	.	172	Q5T1N1	AKND1_HUMAN	F	172	ENSP00000359018:L172F;ENSP00000359011:L172F;ENSP00000359012:L172F	ENSP00000359011:L172F	L	-	1	0	0	AKNAD1	109196296	109196296	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-0.152000	0.10159	0.362000	0.24319	-0.878000	0.02970	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_152763			119	117		420	414	1		1			0	0	79	0		1	0	0	0	0	0	0	119	420
WDR47	22911	broad.mit.edu	37	1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000369962.3	-	9	1931	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A	WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A			O94967	WDR47_HUMAN	WD repeat domain 47	570					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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)		TGGCTTAATGACCGAATGTTC	0.368																																						ENST00000369962.3	0.990000	0.610000	9.500000e-01	7.300000e-01	0.850000	0.847544	0.850000	0.910000																										0				20						c.(1708-1710)gTc>gCc		WD repeat domain 47							101.0	112.0	108.0					1																	109533934		2203	4296	6499	SO:0001583	missense	22911	0	0					g.chr1:109533934A>G	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.1709T>C	chr1.hg19:g.109533934A>G	ENSP00000358979:p.Val570Ala	1					WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A	p.V570A			0	1	1	1.802888	O94967	WDR47_HUMAN		9	1931	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	1	1	hg19	c.1709T>C	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145171	0.37825	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.51;0.55;0.5;0.5;0.5	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.481828	0.20274	N	0.095616	T	0.16514	0.0397	N	0.17082	0.46	0.35252	D	0.778798	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.04509	-1.0946	10	0.08381	T	0.77	-2.5593	12.8407	0.57800	1.0:0.0:0.0:0.0	.	542;578;570;571	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	578;570;542;571;542	ENSP00000383599:V578A;ENSP00000358979:V570A;ENSP00000354339:V542A;ENSP00000358982:V571A;ENSP00000350301:V542A	ENSP00000350301:V542A	V	-	2	0	0	WDR47	109335457	109335457	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.113000	0.64589	0.524000	0.50904	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-10.289280	1	0.170000	NM_014969			30	30		317	314	1		1	1		0	0	125	0		1	8.161253e-01	0	4	0	31	0	30	317
WDR47	22911	broad.mit.edu	37	1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000369962.3	-	6	1400	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D			O94967	WDR47_HUMAN	WD repeat domain 47	393					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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)		TGAACTCTGGCCCAAGATTTC	0.423																																						ENST00000369962.3	1.000000	0.770000	9.800000e-01	8.500000e-01	0.920000	0.920170	0.920000	0.990000																										0				20						c.(1177-1179)gGc>gAc		WD repeat domain 47							108.0	117.0	114.0					1																	109547290		2203	4300	6503	SO:0001583	missense	22911	0	0					g.chr1:109547290C>T	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.1178G>A	chr1.hg19:g.109547290C>T	ENSP00000358979:p.Gly393Asp	1					WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D	p.G393D			0	1	1	1.802888	O94967	WDR47_HUMAN		6	1400	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	1	1	hg19	c.1178G>A	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114881	0.37339	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.54;0.5;0.5;0.5	5.58	4.48	0.54585	5.58	4.48	0.54585	.	0.685635	0.15061	N	0.282753	T	0.17577	0.0422	N	0.08118	0	0.22280	N	0.999237	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.0;0.0;0.0	T	0.13737	-1.0498	10	0.51188	T	0.08	-25.4215	12.4039	0.55428	0.0:0.8018:0.1227:0.0756	.	365;401;393;394	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	401;393;365;394;365	ENSP00000383599:G401D;ENSP00000358979:G393D;ENSP00000354339:G365D;ENSP00000358982:G394D;ENSP00000350301:G365D	ENSP00000350301:G365D	G	-	2	0	0	WDR47	109348813	109348813	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.100000	0.41777	2.622000	0.88805	0.650000	0.86243	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-19.655500	1	0.170000	NM_014969			75	73		725	716	0		1	0		0	0	139	0		1	6.268027e-01	0	1	0	21	0	75	725
WDR47	22911	broad.mit.edu	37	1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000369962.3	-	5	723	c.501G>T	c.(499-501)gaG>gaT	p.E167D	WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D			O94967	WDR47_HUMAN	WD repeat domain 47	167					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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)		TGACACAAGCCTCTTCAAAAC	0.433																																						ENST00000369962.3	1.000000	0.820000	9.900000e-01	8.900000e-01	0.950000	0.945188	0.950000	0.990000																										0				20						c.(499-501)gaG>gaT		WD repeat domain 47							207.0	210.0	209.0					1																	109554167		2203	4296	6499	SO:0001583	missense	22911	0	0					g.chr1:109554167C>A	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.501G>T	chr1.hg19:g.109554167C>A	ENSP00000358979:p.Glu167Asp	1					WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D	p.E167D			0	1	1	1.802888	O94967	WDR47_HUMAN		5	723	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	1	1	hg19	c.501G>T	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140674	0.56936	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772	T;T;T;T;T	0.58652	0.32;0.37;0.32;0.32;0.32	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.42686	1.345	0.58432	D	0.999996	D;D;D;D	0.69078	0.99;0.997;0.997;0.99	D;D;D;D	0.73380	0.98;0.978;0.978;0.98	T	0.60576	-0.7236	10	0.45353	T	0.12	-5.7323	12.8243	0.57710	0.0:0.9149:0.0:0.0851	.	139;174;167;167	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	174;167;139;167;139;167	ENSP00000383599:E174D;ENSP00000358979:E167D;ENSP00000354339:E139D;ENSP00000358982:E167D;ENSP00000350301:E139D	ENSP00000350301:E139D	E	-	3	2	2	WDR47	109355690	109355690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.481000	0.83766	0.563000	0.77884	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	0	0	1		15	2	2	1		1	1	278		278	275	1	2.060000	-20.000000	1	0.170000	NM_014969			107	107		988	961	1		1	1		1	0	278	0		1	7.558372e-01	0	5	0	22	0	107	988
KIAA1324	57535	broad.mit.edu	37	1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	167					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)			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)		CGACTACATCGCCTCCAACAC	0.557																																						ENST00000369939.3	1.000000	0.620000	9.600000e-01	7.400000e-01	0.860000	0.853140	0.860000	0.930000																										0				34						c.(499-501)Gcc>Acc		KIAA1324							101.0	81.0	88.0					1																	109714519		2203	4300	6503	SO:0001583	missense	57535	2	121412	33				g.chr1:109714519G>A	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.499G>A	chr1.hg19:g.109714519G>A	ENSP00000358955:p.Ala167Thr	1					KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	p.A167T	NM_020775.4	NP_065826	0	1	1	1.802888	Q6UXG2	K1324_HUMAN		4	682	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	1	1	hg19	c.499G>A	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	g	4.897	0.166757	0.09339	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.44083	1.56;0.93;0.93;0.93	5.99	1.81	0.25067	5.99	1.81	0.25067	.	0.348105	0.32533	N	0.005968	T	0.14270	0.0345	L	0.40543	1.245	0.23751	N	0.996942	B;B;B;B	0.20671	0.018;0.047;0.011;0.011	B;B;B;B	0.17433	0.006;0.018;0.009;0.009	T	0.30208	-0.9986	10	0.19147	T	0.46	-15.5327	14.3279	0.66532	0.0659:0.0:0.8093:0.1248	.	167;167;167;167	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	167	ENSP00000431349:A167T;ENSP00000358955:A167T;ENSP00000393964:A167T;ENSP00000434595:A167T	ENSP00000358955:A167T	A	+	1	0	0	KIAA1324	109516042	109516042	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	2.737000	0.47393	0.051000	0.15978	-0.127000	0.14921	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	1	0	1		2	2	2	0		0	0	79		79	76	1	2.060000	-9.768677	1	0.170000	NM_020775			27	26		275	266	0		1	0		0	0	79	0		9.999999e-01	9.502727e-01	0	0	0	53	0	27	275
CELSR2	1952	broad.mit.edu	37	1	109793139	109793139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	146					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)			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)		TCAGATGCCAGTCCTGCAAGC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.925473	0.930000	0.990000																										0				82						c.(436-438)caG>caA		cadherin, EGF LAG seven-pass G-type receptor 2							42.0	51.0	48.0					1																	109793139		2203	4300	6503	SO:0001819	synonymous_variant	1952	0	0					g.chr1:109793139G>A	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.438G>A	chr1.hg19:g.109793139G>A		1						p.Q146Q	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		1	499	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	1	1	hg19	c.438G>A	CCDS796.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001408			36	36		279	275	1		1	0		0	0	61	0		1	3.843237e-02	0	1	0	2	0	36	279
CELSR2	1952	broad.mit.edu	37	1	109794810	109794810	+	Silent	SNP	C	C	T	rs199976988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	703	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		TGAATGTCACCGACGCCAACA	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22497	0.0		0.0	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.912232	0.920000	0.990000																										0				82						c.(2107-2109)acC>acT		cadherin, EGF LAG seven-pass G-type receptor 2							84.0	77.0	79.0					1																	109794810		2203	4300	6503	SO:0001819	synonymous_variant	1952	1	121410	27				g.chr1:109794810C>T	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.2109C>T	chr1.hg19:g.109794810C>T		1						p.T703T	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		1	2170	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	1	1	hg19	c.2109C>T	CCDS796.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.665584	1	0.170000	NM_001408			34	33		283	280	1		1	1		0	0	61	0		1	3.433331e-01	0	2	0	9	0	34	283
CELSR2	1952	broad.mit.edu	37	1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1944	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		TGGCCAGTGTCCATGCAAGCC	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.900000	1	9.400000e-01	0.970000	0.976528	0.970000	0.990000																										0				82						c.(5830-5832)Cca>Tca		cadherin, EGF LAG seven-pass G-type receptor 2							67.0	61.0	63.0					1																	109808459		2203	4300	6503	SO:0001583	missense	1952	0	0					g.chr1:109808459C>T	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.5830C>T	chr1.hg19:g.109808459C>T	ENSP00000271332:p.Pro1944Ser	1						p.P1944S	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		14	5891	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	1	1	hg19	c.5830C>T	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666778	0.47677	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.6	4.6	0.57074	4.6	4.6	0.57074	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.23210	0.0561	L	0.27944	0.81	0.43426	D	0.995586	B	0.14012	0.009	B	0.19666	0.026	T	0.06303	-1.0834	9	0.07990	T	0.79	.	11.7701	0.51953	0.0:0.9136:0.0:0.0864	.	1944	Q9HCU4	CELR2_HUMAN	S	1944	ENSP00000271332:P1944S	ENSP00000271332:P1944S	P	+	1	0	0	CELSR2	109609982	109609982	0.772000	0.28567	0.997000	0.53966	0.984000	0.73092	5.881000	0.69706	2.387000	0.81309	0.462000	0.41574	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_001408			52	50		178	175	1		1	0		0	0	65	0		1	4.978259e-01	0	1	0	6	0	52	178
CELSR2	1952	broad.mit.edu	37	1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T	rs374375242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2122					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)			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)		AGCCAACAAGCGGCACTGGGA	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.580000	9.600000e-01	7.200000e-01	0.850000	0.844220	0.850000	0.960000																										0				82						c.(6364-6366)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	42.0	42.0	42.0		6364	4.0	1.0	1		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2122/2924	109811248	1,13005	2203	4300	6503	SO:0001583	missense	1952	26	121408	42				g.chr1:109811248C>T	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.6364C>T	chr1.hg19:g.109811248C>T	ENSP00000271332:p.Arg2122Trp	1						p.R2122W	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		18	6425	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	1	1	hg19	c.6364C>T	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620167	0.66787	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.09911	2.93	4.9	3.96	0.45880	4.9	3.96	0.45880	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.35826	D	0.824974	D	0.76494	0.999	D	0.68765	0.96	T	0.07214	-1.0784	9	0.72032	D	0.01	.	11.3079	0.49347	0.1458:0.7219:0.1323:0.0	.	2122	Q9HCU4	CELR2_HUMAN	W	2122	ENSP00000271332:R2122W	ENSP00000271332:R2122W	R	+	1	2	2	CELSR2	109612771	109612771	0.770000	0.28543	1.000000	0.80357	0.995000	0.86356	0.632000	0.24583	1.248000	0.43934	0.561000	0.74099	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.017765	1	0.170000	NM_001408			20	18		196	194	0		1	0		0	0	48	0		9.999956e-01	2.508012e-01	0	0	0	10	0	20	196
CELSR2	1952	broad.mit.edu	37	1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2253					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)			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)		ATCATCTACCGCACCCTGGCC	0.672																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.700000	9.800000e-01	8.200000e-01	0.910000	0.904291	0.910000	0.990000																										0				82						c.(6757-6759)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2		G	HIS/ARG	0,4406		0,0,2203	29.0	31.0	30.0		6758	3.7	1.0	1	dbSNP_134	30	11,8587		0,11,4288	yes	missense	CELSR2	NM_001408.2	29	0,11,6491	AA,AG,GG		0.1279,0.0,0.0846	benign	2253/2924	109811858	11,12993	2203	4299	6502	SO:0001583	missense	1952	93	121384	49				g.chr1:109811858G>A	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.6758G>A	chr1.hg19:g.109811858G>A	ENSP00000271332:p.Arg2253His	1						p.R2253H	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		20	6819	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	1	1	hg19	c.6758G>A	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358225	0.41801	0.0	0.001279	ENSG00000143126	ENST00000271332	T	0.11821	2.74	4.63	3.7	0.42460	4.63	3.7	0.42460	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.03390	0.0098	N	0.25201	0.72	0.29053	N	0.884409	B	0.26400	0.148	B	0.22753	0.041	T	0.38045	-0.9679	9	0.33940	T	0.23	.	11.5909	0.50945	0.0893:0.0:0.9107:0.0	.	2253	Q9HCU4	CELR2_HUMAN	H	2253	ENSP00000271332:R2253H	ENSP00000271332:R2253H	R	+	2	0	0	CELSR2	109613381	109613381	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.856000	0.55964	1.156000	0.42514	0.462000	0.41574	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-7.442710	1	0.170000	NM_001408			31	31		262	261	1		1	1		0	0	55	0		1	3.380897e-01	0	3	0	8	0	31	262
CELSR2	1952	broad.mit.edu	37	1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2735					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)			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)		GGCTCCTATGCCTCTACCCAC	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.929416	0.940000	0.990000																										0				82						c.(8203-8205)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 2							54.0	59.0	58.0					1																	109815515		2203	4300	6503	SO:0001583	missense	1952	0	0					g.chr1:109815515C>T	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.8204C>T	chr1.hg19:g.109815515C>T	ENSP00000271332:p.Ala2735Val	1					CELSR2_ENST00000498157.1_3'UTR	p.A2735V	NM_001408.2	NP_001399.1	0	1	1	1.802888	Q9HCU4	CELR2_HUMAN		31	8265	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	1	1	hg19	c.8204C>T	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577470	0.86645	.	.	ENSG00000143126	ENST00000271332	T	0.75154	-0.91	4.7	4.7	0.59300	4.7	4.7	0.59300	.	.	.	.	.	T	0.77579	0.4151	M	0.67397	2.05	0.50632	D	0.999886	D	0.67145	0.996	P	0.57679	0.825	T	0.80723	-0.1255	9	0.72032	D	0.01	.	14.261	0.66085	0.0:0.8499:0.1501:0.0	.	2735	Q9HCU4	CELR2_HUMAN	V	2735	ENSP00000271332:A2735V	ENSP00000271332:A2735V	A	+	2	0	0	CELSR2	109617038	109617038	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.664000	0.46783	2.443000	0.82685	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-3.221890	1	0.170000	NM_001408			39	39		303	293	1		1	1		0	0	66	0		1	6.821984e-01	0	4	0	16	0	39	303
MYBPHL	343263	broad.mit.edu	37	1	109838933	109838933	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109838933T>C	ENST00000357155.1	-	6	839	c.790A>G	c.(790-792)Acc>Gcc	p.T264A	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	264	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGAGGCTGGGTAAACTTTGGG	0.587																																						ENST00000357155.1	1.000000	0.840000	9.900000e-01	9.000000e-01	0.960000	0.954854	0.960000	0.990000																										0				14						c.(790-792)Acc>Gcc		myosin binding protein H-like							103.0	108.0	106.0					1																	109838933		2203	4300	6503	SO:0001583	missense	343263	0	0					g.chr1:109838933T>C	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.790A>G	chr1.hg19:g.109838933T>C	ENSP00000349678:p.Thr264Ala	1					MYBPHL_ENST00000477962.1_Intron	p.T264A	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	0	1	1	1.802888	A2RUH7	MBPHL_HUMAN		6	839	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	1	0	hg19	c.790A>G	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612854	0.87258	.	.	ENSG00000221986	ENST00000357155	T	0.74526	-0.85	5.01	5.01	0.66863	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72120	0.3421	M	0.85373	2.75	0.49389	D	0.999782	P;P	0.38167	0.619;0.621	B;B	0.44133	0.442;0.394	T	0.73193	-0.4060	9	0.27082	T	0.32	.	12.723	0.57152	0.0:0.0:0.0:1.0	.	241;264	B7ZME5;A2RUH7	.;MBPHL_HUMAN	A	264	ENSP00000349678:T264A	ENSP00000349678:T264A	T	-	1	0	0	MYBPHL	109640456	109640456	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	2.116000	0.64780	0.459000	0.35465	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	0	0	1		20	2	2	1		1	1	103		103	102	1	2.060000	-0.832717	0	0.170000	NM_001010985			71	68		557	543	1		1			1	0	103	0		1	0	0	0	0	0	0	71	557
SORT1	6272	broad.mit.edu	37	1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	747	Interactions with LRPAP1 and NGFB.				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)			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)		TGTTTTTCCGGACTCAAAAAG	0.373																																						ENST00000256637.6	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.955846	0.960000	0.990000																										0				26						c.(2239-2241)Ccg>Tcg		sortilin 1							138.0	134.0	135.0					1																	109859483		2203	4300	6503	SO:0001583	missense	6272	0	0					g.chr1:109859483G>A	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.2239C>T	chr1.hg19:g.109859483G>A	ENSP00000256637:p.Pro747Ser	1					SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	p.P747S	NM_002959.5	NP_002950.3	0	1	1	1.802888	Q99523	SORT_HUMAN		17	2297	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	1	1	hg19	c.2239C>T	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313533	0.40996	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.14266	2.52;2.55	5.65	4.7	0.59300	5.65	4.7	0.59300	.	0.412269	0.26757	N	0.022655	T	0.02380	0.0073	N	0.12182	0.205	0.47276	D	0.999379	B;B	0.20261	0.019;0.043	B;B	0.11329	0.003;0.006	T	0.40001	-0.9586	10	0.20046	T	0.44	-5.7976	8.1127	0.30924	0.1928:0.0:0.8072:0.0	.	610;747	B4DWI3;Q99523	.;SORT_HUMAN	S	747;610	ENSP00000256637:P747S;ENSP00000438597:P610S	ENSP00000256637:P747S	P	-	1	0	0	SORT1	109661006	109661006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.323000	0.65858	1.295000	0.44724	-0.345000	0.07892	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-19.998840	1	0.170000	NM_002959			60	59		435	429	0		1	1		0	0	108	0		1	1	0	26	0	230	0	60	435
PSMA5	5686	broad.mit.edu	37	1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	100					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)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468																																						ENST00000271308.4	0.970000	0.460000	8.800000e-01	5.800000e-01	0.730000	0.735066	0.730000	0.730000																										0				5						c.(298-300)tgG>tgA		proteasome (prosome, macropain) subunit, alpha type, 5							150.0	114.0	126.0					1																	109954798		2203	4300	6503	SO:0001587	stop_gained	5686	0	0					g.chr1:109954798C>T	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.300G>A	chr1.hg19:g.109954798C>T	ENSP00000271308:p.Trp100*	1					PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	p.W100*	NM_002790.3	NP_002781.2	0	1	1	1.802888	P28066	PSA5_HUMAN		5	320	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Nonsense_Mutation	SNP	ENST00000271308.4	0	1	hg19	c.300G>A	CCDS799.1	0	.	.	.	.	.	.	.	.	.	.	c	29.6	5.020195	0.93462	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0842	18.9585	0.92670	0.0:1.0:0.0:0.0	.	.	.	.	X	42;100	.	.	W	-	3	0	0	PSMA5	109756321	109756321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-6.844612	1	0.170000	NM_002790			19	19		251	245	0		1	1		0	0	62	0		9.999903e-01	1	0	13	0	674	0	19	251
C1orf127	148345	broad.mit.edu	37	1	11008344	11008344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377008.4	-	11	1793	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	C1orf127_ENST00000377004.4_Silent_p.T616T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	449										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)		TTCCAGAGCACGTTTCCTGGG	0.652																																						ENST00000377008.4	0.980000	0.620000	9.300000e-01	7.200000e-01	0.820000	0.828459	0.820000	0.840000																										0				32						c.(1345-1347)acG>acA		chromosome 1 open reading frame 127							59.0	68.0	65.0					1																	11008344		2203	4300	6503	SO:0001819	synonymous_variant	148345	0	0					g.chr1:11008344C>T	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.1347G>A	chr1.hg19:g.11008344C>T		1					C1orf127_ENST00000377004.4_Silent_p.T616T	p.T449T			0	1	1	1.838767	Q8N9H9	CA127_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	11	1793	-	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)	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	1	1	hg19	c.1347G>A		0	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103869	0.06967	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-6.74	0.01743	3.9	-6.74	0.01743	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.6694	8.9166	0.35585	0.0:0.5712:0.1442:0.2846	.	.	.	.	H	451;568	.	.	R	-	2	0	0	C1orf127	10930931	10930931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-1.442000	0.01955	-1.855000	0.00564	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	1		1	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_173507			48	47		558	547	0		1	0		1	0	116	0		1	1.611508e-01	0	0	0	9	0	48	558
ATXN7L2	127002	broad.mit.edu	37	1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627																																						ENST00000369870.3	0.750000	0.290000	6.200000e-01	3.800000e-01	0.490000	0.510862	0.490000	0.480000																										0				17						c.(853-855)Ctg>Atg		ataxin 7-like 2							41.0	44.0	43.0					1																	110031538		2203	4300	6503	SO:0001583	missense	127002	0	0					g.chr1:110031538C>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.853C>A	chr1.hg19:g.110031538C>A	ENSP00000358886:p.Leu285Met	1						p.L285M	NM_153340.4	NP_699171.3	0	1	1	1.802888	Q5T6C5	AT7L2_HUMAN		7	868	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Missense_Mutation	SNP	ENST00000369870.3	1	1	hg19	c.853C>A	CCDS30794.1	0	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286534	0.59867	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35421	1.31	5.72	4.82	0.62117	5.72	4.82	0.62117	SCA7 domain (2);	0.000000	0.47093	D	0.000246	T	0.28928	0.0718	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	10	0.35671	T	0.21	-7.1685	8.7501	0.34611	0.0:0.8294:0.0:0.1706	.	285	Q5T6C5	AT7L2_HUMAN	M	285	ENSP00000358886:L285M	ENSP00000358886:L285M	L	+	1	2	2	ATXN7L2	109833061	109833061	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.513000	0.35823	1.424000	0.47217	0.561000	0.74099	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-4.777478	1	0.170000	NM_153340			16	15		330	322	0		1	0		0	0	51	0		9.999232e-01	1.846252e-01	0	1	0	15	0	16	330
GPR61	83873	broad.mit.edu	37	1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607																																						ENST00000527748.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.991954	0.990000	0.990000																										0				23						c.(202-204)Gcc>Acc		G protein-coupled receptor 61							173.0	160.0	165.0					1																	110085846		2203	4300	6503	SO:0001583	missense	83873	0	0					g.chr1:110085846G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.202G>A	chr1.hg19:g.110085846G>A	ENSP00000432456:p.Ala68Thr	1					RP5-1160K1.8_ENST00000526411.1_RNA	p.A68T	NM_031936.4	NP_114142.3	0	1	1	1.802888	Q9BZJ8	GPR61_HUMAN		2	885	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	1	1	hg19	c.202G>A	CCDS801.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566256	0.27915	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36699	1.24	5.33	5.33	0.75918	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.060511	0.64402	D	0.000003	T	0.12433	0.0302	L	0.31752	0.955	0.45806	D	0.998682	B	0.31599	0.33	B	0.24394	0.053	T	0.06427	-1.0827	10	0.46703	T	0.11	-8.7647	8.7371	0.34534	0.0806:0.1531:0.7663:0.0	.	68	Q9BZJ8	GPR61_HUMAN	T	68;196	ENSP00000432456:A68T	ENSP00000286603:A196T	A	+	1	0	0	GPR61	109887369	109887369	0.851000	0.29673	0.952000	0.39060	0.679000	0.39708	1.313000	0.33585	2.479000	0.83701	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1	0	0	1		19	2	2	1		1	1	125		125	122	1	2.060000	-3.410548	1	0.170000				142	137		565	550	1		1			1	0	125	0		1	0	0	0	0	0	0	142	565
GNAI3	2773	broad.mit.edu	37	1	110116530	110116530	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	58					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)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	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)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348																																						ENST00000369851.4	1.000000	0.880000	1	9.300000e-01	0.970000	0.971878	0.970000	0.990000																										0				12						c.(172-174)gaG>gaA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							98.0	95.0	96.0					1																	110116530		2203	4300	6503	SO:0001819	synonymous_variant	2773	0	0					g.chr1:110116530G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.174G>A	chr1.hg19:g.110116530G>A		1						p.E58E	NM_006496.3	NP_006487.1	0	1	1	1.802888	P08754	GNAI3_HUMAN		3	284	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	1	1	hg19	c.174G>A	CCDS802.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006496			49	49		203	201	0		1	1	0	0	0	48	4		1	1	0	84	0	190	1	49	203
GSTM2	2946	broad.mit.edu	37	1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000241337.4	+	3	178	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369831.2_Missense_Mutation_p.R43K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	43	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GATTATGACAGAAGCCAGTGG	0.552																																						ENST00000241337.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.981419	0.980000	0.990000																										0				11						c.(127-129)aGa>aAa		glutathione S-transferase mu 2 (muscle)	Glutathione(DB00143)						54.0	54.0	54.0					1																	110211562		2203	4300	6503	SO:0001583	missense	2946	1	121412	31				g.chr1:110211562G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.128G>A	chr1.hg19:g.110211562G>A	ENSP00000241337:p.Arg43Lys	1					GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369831.2_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K	p.R43K	NM_000848.3	NP_000839.1	0	1	1	1.802888	P28161	GSTM2_HUMAN		3	178	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	1	1	hg19	c.128G>A	CCDS808.1	1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458687	0.26248	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	3.27	2.27	0.28462	3.27	2.27	0.28462	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.286703	0.31660	N	0.007277	T	0.08626	0.0214	N	0.16602	0.42	0.24752	N	0.992977	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.25572	-1.0128	10	0.33141	T	0.24	.	4.9241	0.13885	0.3218:0.0:0.6782:0.0	.	43;43;43	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	43;41;43;43;43;43;43	ENSP00000416883:R43K;ENSP00000358842:R41K;ENSP00000358846:R43K;ENSP00000435910:R43K;ENSP00000435157:R43K;ENSP00000358844:R43K;ENSP00000241337:R43K	ENSP00000241337:R43K	R	+	2	0	0	GSTM2	110013085	110013085	0.919000	0.31177	1.000000	0.80357	0.908000	0.53690	0.480000	0.22244	0.616000	0.30141	0.454000	0.30748	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	1	0	1		2	2	2	0		0	0	74		74	93	1	2.060000	-4.005969	1	0.170000	NM_000848			66	65		237	222	1		1	1		0	0	74	0		1	9.991703e-01	0	9	0	32	0	66	237
EPS8L3	79574	broad.mit.edu	37	1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000361965.4	-	15	1440	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	EPS8L3_ENST00000369805.3_Missense_Mutation_p.S446N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	445						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577																																						ENST00000361965.4	1.000000	0.960000	1	9.800000e-01	0.990000	0.994523	0.990000	1.000000																										0				32						c.(1333-1335)aGc>aAc		EPS8-like 3							120.0	134.0	130.0					1																	110294717		2203	4300	6503	SO:0001583	missense	79574	0	0					g.chr1:110294717C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1334G>A	chr1.hg19:g.110294717C>T	ENSP00000355255:p.Ser445Asn	1					EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S446N	p.S445N	NM_133181.3	NP_573444.2	0	1	1	1.802888	Q8TE67	ES8L3_HUMAN		15	1440	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	1	1	hg19	c.1334G>A	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612777	0.46631	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30182	1.54;1.54;1.54	5.49	0.0683	0.14369	5.49	0.0683	0.14369	Src homology-3 domain (1);	2.026650	0.01513	N	0.018038	T	0.14700	0.0355	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46142	0.804;0.704;0.873	B;B;P	0.47346	0.36;0.255;0.544	T	0.05500	-1.0881	10	0.22109	T	0.4	-2.3711	4.5838	0.12271	0.0:0.4336:0.3061:0.2603	.	415;445;446	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	N	415;446;445	ENSP00000354551:S415N;ENSP00000358820:S446N;ENSP00000355255:S445N	ENSP00000354551:S415N	S	-	2	0	0	EPS8L3	110096240	110096240	0.058000	0.20735	0.003000	0.11579	0.019000	0.09904	0.822000	0.27352	0.028000	0.15324	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	1	0	1		2	2	2	0		0	0	187		187	185	1	2.060000	-2.970759	1	0.170000	NM_024526			194	190		787	756	1		1	1		0	0	187	0		1	1	0	330	0	187	0	194	787
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000329608.6	1.000000	0.840000	1	9.100000e-01	0.960000	0.957746	0.960000	0.990000																										0				20						c.(757-759)Cca>Tca		colony stimulating factor 1 (macrophage)							42.0	47.0	45.0					1																	110466000		2203	4300	6503	SO:0001583	missense	1435	0	0					g.chr1:110466000C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.757C>T	chr1.hg19:g.110466000C>T	ENSP00000327513:p.Pro253Ser	1		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron	p.P253S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	0	1	1	1.802888	P09603	CSF1_HUMAN		6	1148	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	1	1	hg19	c.757C>T	CCDS816.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	0	CSF1	110267523	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_000757			52	50		340	333	1		1	0		0	0	75	0		1	9.976866e-01	0	0	0	62	0	52	340
AHCYL1	10768	broad.mit.edu	37	1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	182					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473																																						ENST00000369799.5	1.000000	0.830000	1	9.000000e-01	0.960000	0.955346	0.960000	0.990000																										0				18						c.(544-546)Act>Cct		adenosylhomocysteinase-like 1							95.0	83.0	87.0					1																	110555585		2203	4300	6503	SO:0001583	missense	10768	0	0					g.chr1:110555585A>C	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.544A>C	chr1.hg19:g.110555585A>C	ENSP00000358814:p.Thr182Pro	1					AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P	p.T182P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	0	1	1	1.802888	O43865	SAHH2_HUMAN		5	911	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	1	1	hg19	c.544A>C	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.306786	0.95629	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82526	-1.62;-1.62;-1.62	6.07	6.07	0.98685	6.07	6.07	0.98685	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-17.5851	16.6406	0.85098	1.0:0.0:0.0:0.0	.	182	O43865	SAHH2_HUMAN	P	182;135;135	ENSP00000358814:T182P;ENSP00000352092:T135P;ENSP00000377238:T135P	ENSP00000352092:T135P	T	+	1	0	0	AHCYL1	110357108	110357108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.326000	0.78906	0.533000	0.62120	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				31	31		130	126	1		1	1		0	0	38	0		1	1	0	103	0	173	0	31	130
SLC6A17	388662	broad.mit.edu	37	1	110716645	110716645	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	165					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)			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)		GGTGGAGCATCTTCTATTTCT	0.572																																						ENST00000331565.4	1.000000	0.700000	9.600000e-01	7.900000e-01	0.880000	0.878918	0.880000	0.910000																										0				37						c.(493-495)atC>atA		solute carrier family 6 (neutral amino acid transporter), member 17							192.0	186.0	188.0					1																	110716645		2203	4300	6503	SO:0001819	synonymous_variant	388662	0	0					g.chr1:110716645C>A		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.495C>A	chr1.hg19:g.110716645C>A		1					RP5-1028L10.1_ENST00000443008.1_RNA	p.I165I	NM_001010898.2	NP_001010898.1	0	1	1	1.802888	Q9H1V8	S6A17_HUMAN		4	980	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	1	1	hg19	c.495C>A	CCDS30799.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-15.812890	1	0.170000	XM_371280			61	60		648	632	0		1	0		0	0	135	0		1	2.486434e-01	0	0	0	11	0	61	648
SLC6A17	388662	broad.mit.edu	37	1	110719341	110719341	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L	RP5-1028L10.2_ENST00000440688.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	282					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)			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)		TGATGGCATCCTACACATGTT	0.572																																						ENST00000331565.4	0.990000	0.660000	9.600000e-01	7.600000e-01	0.870000	0.864659	0.870000	0.910000																										0				37						c.(844-846)Cta>Tta		solute carrier family 6 (neutral amino acid transporter), member 17							147.0	120.0	130.0					1																	110719341		2203	4300	6503	SO:0001819	synonymous_variant	388662	0	0					g.chr1:110719341C>T		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.844C>T	chr1.hg19:g.110719341C>T		1					RP5-1028L10.2_ENST00000440688.1_RNA	p.L282L	NM_001010898.2	NP_001010898.1	0	1	1	1.802888	Q9H1V8	S6A17_HUMAN		6	1329	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	1	1	hg19	c.844C>T	CCDS30799.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-2.774725	1	0.170000	XM_371280			42	42		444	432	0		1	0		0	0	102	0		1	2.190626e-01	0	0	0	10	0	42	444
SLC6A17	388662	broad.mit.edu	37	1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	528					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)			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)		TGACTACTCGGCCACCCTGCC	0.532																																						ENST00000331565.4	0.730000	0.270000	6.000000e-01	3.600000e-01	0.470000	0.486042	0.470000	0.460000																										0				37						c.(1582-1584)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 17							105.0	87.0	93.0					1																	110738297		2203	4300	6503	SO:0001583	missense	388662	0	0					g.chr1:110738297G>A		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.1582G>A	chr1.hg19:g.110738297G>A	ENSP00000330199:p.Ala528Thr	1						p.A528T	NM_001010898.2	NP_001010898.1	0	1	1	1.802888	Q9H1V8	S6A17_HUMAN		10	2067	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	1	1	hg19	c.1582G>A	CCDS30799.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.909396	0.97093	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77877	-1.13	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.102844	0.64402	D	0.000002	D	0.87366	0.6159	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88080	0.2806	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	528	Q9H1V8	S6A17_HUMAN	T	528	ENSP00000330199:A528T	ENSP00000330199:A528T	A	+	1	0	0	SLC6A17	110539820	110539820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.920853	1	0.170000	XM_371280			14	13		306	299	0		1	0		0	0	64	0		9.997197e-01	4.042650e-02	0	0	0	7	0	14	306
SLC6A17	388662	broad.mit.edu	37	1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	716					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)			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)		TATGGGAGCGGCTACCTGCTG	0.672																																						ENST00000331565.4	1.000000	0.820000	9.900000e-01	8.900000e-01	0.950000	0.947902	0.950000	0.990000																										0				37						c.(2146-2148)gGc>gAc		solute carrier family 6 (neutral amino acid transporter), member 17							63.0	64.0	64.0					1																	110741029		2203	4300	6503	SO:0001583	missense	388662	0	0					g.chr1:110741029G>A		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.2147G>A	chr1.hg19:g.110741029G>A	ENSP00000330199:p.Gly716Asp	1						p.G716D	NM_001010898.2	NP_001010898.1	0	1	1	1.802888	Q9H1V8	S6A17_HUMAN		12	2632	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	1	1	hg19	c.2147G>A	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511293	0.85389	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75154	-0.91	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.385030	0.26156	N	0.026015	T	0.78704	0.4325	L	0.52573	1.65	0.58432	D	0.999996	D	0.71674	0.998	D	0.65443	0.935	T	0.82145	-0.0602	10	0.87932	D	0	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	716	Q9H1V8	S6A17_HUMAN	D	716	ENSP00000330199:G716D	ENSP00000330199:G716D	G	+	2	0	0	SLC6A17	110542552	110542552	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.098000	0.94202	2.053000	0.61076	0.313000	0.20887	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.318794	1	0.170000	XM_371280			61	61		483	477	1		1	0		0	0	97	0		1	1.028612e-01	0	0	0	5	0	61	483
KCNC4	3749	broad.mit.edu	37	1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000369787.3	+	2	1154	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	376					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617																																						ENST00000369787.3	1.000000	0.710000	9.800000e-01	8.200000e-01	0.910000	0.904259	0.910000	0.990000																										0				32						c.(1126-1128)gCc>gTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							57.0	48.0	51.0					1																	110766034		2203	4300	6503	SO:0001583	missense	3749	0	0					g.chr1:110766034C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1127C>T	chr1.hg19:g.110766034C>T	ENSP00000358802:p.Ala376Val	1					KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V	p.A376V	NM_004978.4	NP_004969.2	0	1	1	1.802888	Q03721	KCNC4_HUMAN		2	1154	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	1	1	hg19	c.1127C>T	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866427	0.91511	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98732	-5.1;-5.1;-5.1	4.93	4.93	0.64822	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	18.4936	0.90856	0.0:1.0:0.0:0.0	.	376;376;376	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	V	376	ENSP00000358802:A376V;ENSP00000388029:A376V;ENSP00000393655:A376V	ENSP00000358802:A376V	A	+	2	0	0	KCNC4	110567557	110567557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.776000	0.85560	2.445000	0.82738	0.462000	0.41574	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001039574			33	33		285	282	1		1	1		0	0	46	0		1	9.902820e-01	0	28	0	37	0	33	285
TARDBP	23435	broad.mit.edu	37	1	11082189	11082189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000315091.3_Silent_p.Q241Q|TARDBP_ENST00000439080.2_Silent_p.Q125Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	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;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333																																						ENST00000240185.3	1.000000	0.700000	9.800000e-01	8.100000e-01	0.900000	0.897397	0.900000	0.990000																										0				11						c.(721-723)caG>caA		TAR DNA binding protein							81.0	79.0	80.0					1																	11082189		2203	4300	6503	SO:0001819	synonymous_variant	23435	0	0					g.chr1:11082189G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.723G>A	chr1.hg19:g.11082189G>A		1					TARDBP_ENST00000315091.3_Silent_p.Q241Q|TARDBP_ENST00000439080.2_Silent_p.Q125Q	p.Q241Q	NM_007375.3	NP_031401.1	0	1	1	1.838767	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	6	837	+	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)	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	1	1	hg19	c.723G>A	CCDS122.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-12.654920	1	0.170000	NM_007375			34	33		307	299	1		1	1		0	0	81	0		1	1	0	68	0	326	0	34	307
KCNC4	3749	broad.mit.edu	37	1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000369787.3	+	2	1627	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	534					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577																																						ENST00000369787.3	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.911181	0.920000	0.990000																										0				32						c.(1600-1602)Gag>Aag		potassium voltage-gated channel, Shaw-related subfamily, member 4							50.0	56.0	54.0					1																	110766507		2203	4300	6503	SO:0001583	missense	3749	2	121396	31				g.chr1:110766507G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1600G>A	chr1.hg19:g.110766507G>A	ENSP00000358802:p.Glu534Lys	1					KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K	p.E534K	NM_004978.4	NP_004969.2	0	1	1	1.802888	Q03721	KCNC4_HUMAN		2	1627	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	1	1	hg19	c.1600G>A	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520122	0.44866	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97772	-4.53;-4.48;-4.48	5.03	4.12	0.48240	5.03	4.12	0.48240	.	1.876610	0.02862	N	0.130416	D	0.94820	0.8327	M	0.67397	2.05	0.36759	D	0.883189	B;B;P	0.34892	0.12;0.155;0.474	B;B;B	0.24269	0.009;0.014;0.052	D	0.86509	0.1808	10	0.52906	T	0.07	.	13.4512	0.61172	0.0775:0.0:0.9225:0.0	.	534;534;534	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	534	ENSP00000358802:E534K;ENSP00000388029:E534K;ENSP00000393655:E534K	ENSP00000358802:E534K	E	+	1	0	0	KCNC4	110568030	110568030	1.000000	0.71417	0.846000	0.33378	0.942000	0.58702	3.378000	0.52432	1.268000	0.44264	0.462000	0.41574	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001039574			29	29		228	227	1		1	1		0	0	46	0		1	9.993637e-01	0	20	0	72	0	29	228
RBM15	64783	broad.mit.edu	37	1	110882330	110882330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	101	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		TCCACCTGGACAAGTCCAGCA	0.607			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3	0.920000	0.320000	7.800000e-01	4.500000e-01	0.600000	0.622010	0.600000	0.590000				Dom	yes			Dom	yes		1	1p13	1p13	64783	T	RNA binding motif protein 15				L	L	MKL1		acute megakaryocytic leukemia		0				3						c.(301-303)gaC>gaT		RNA binding motif protein 15							19.0	21.0	20.0					1																	110882330		2200	4291	6491	SO:0001819	synonymous_variant	64783	0	0					g.chr1:110882330C>T	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.303C>T	chr1.hg19:g.110882330C>T		1		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D	p.D101D	NM_022768.4	NP_073605.4	0	1	1	1.802888	Q96T37	RBM15_HUMAN		1	1203	+		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)	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	1	1	hg19	c.303C>T	CCDS822.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-14.698790	1	0.170000	NM_022768			11	10		180	177	0		1	1		0	0	35	0		9.982934e-01	3.738775e-01	0	3	0	18	0	11	180
RBM15	64783	broad.mit.edu	37	1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	185	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			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)		AGTGACGAAGCGGTGGAGGAC	0.597			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.943024	0.950000	0.990000				Dom	yes			Dom	yes		1	1p13	1p13	64783	T	RNA binding motif protein 15				L	L	MKL1		acute megakaryocytic leukemia		0				3						c.(553-555)gCg>gTg		RNA binding motif protein 15							71.0	75.0	73.0					1																	110882581		2203	4300	6503	SO:0001583	missense	64783	0	0					g.chr1:110882581C>T	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.554C>T	chr1.hg19:g.110882581C>T	ENSP00000358799:p.Ala185Val	1		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V	p.A185V	NM_022768.4	NP_073605.4	0	1	1	1.802888	Q96T37	RBM15_HUMAN		1	1454	+		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)	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	1	1	hg19	c.554C>T	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970749	0.34754	.	.	ENSG00000162775	ENST00000369784	T	0.17691	2.26	5.21	5.21	0.72293	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46442	D	0.000284	T	0.04679	0.0127	N	0.12569	0.235	0.53005	D	0.99996	D;D	0.56521	0.976;0.96	B;B	0.40134	0.32;0.238	T	0.40590	-0.9555	10	0.13108	T	0.6	-9.2181	18.5182	0.90942	0.0:1.0:0.0:0.0	.	185;185	Q96T37-3;Q96T37	.;RBM15_HUMAN	V	185	ENSP00000358799:A185V	ENSP00000358799:A185V	A	+	2	0	0	RBM15	110684104	110684104	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.706000	0.92434	0.655000	0.94253	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-18.717510	1	0.170000	NM_022768			51	50		394	390	1		1	0		0	0	66	0		1	2.824329e-01	0	1	0	8	0	51	394
MASP2	10747	broad.mit.edu	37	1	11090932	11090932	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11090932G>A	ENST00000400897.3	-	9	1110	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	365	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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)		GAGGGCCACAGTCAACAACTA	0.507																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3	0.820000	0.230000	6.600000e-01	3.400000e-01	0.480000	0.503327	0.480000	0.460000																										0				23						c.(1093-1095)gaC>gaT		mannan-binding lectin serine peptidase 2							76.0	63.0	67.0					1																	11090932		2203	4300	6503	SO:0001819	synonymous_variant	10747	0	0					g.chr1:11090932G>A	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.1095C>T	chr1.hg19:g.11090932G>A		1					RP4-635E18.8_ENST00000607145.1_RNA	p.D365D	NM_006610.3	NP_006601.2	0	1	1	1.838767	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	9	1110	-	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)	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	1	1	hg19	c.1095C>T	CCDS123.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	0	0	1		2	2	2	0		0	0	48		48	49	1	2.060000	-10.835010	1	0.170000	NM_006610			8	8		171	162	0		1			0	0	48	0		9.874992e-01	0	0	0	0	0	0	8	171
RBM15	64783	broad.mit.edu	37	1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	717	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		GGGTGACAAGCGAGACCGTAA	0.502			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3	0.980000	0.540000	9.100000e-01	6.500000e-01	0.780000	0.785734	0.780000	0.790000				Dom	yes			Dom	yes		1	1p13	1p13	64783	T	RNA binding motif protein 15				L	L	MKL1		acute megakaryocytic leukemia		0				3						c.(2149-2151)Cga>Tga		RNA binding motif protein 15							75.0	78.0	77.0					1																	110884176		2203	4300	6503	SO:0001587	stop_gained	64783	0	0					g.chr1:110884176C>T	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.2149C>T	chr1.hg19:g.110884176C>T	ENSP00000358799:p.Arg717*	1					RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	p.R717*	NM_022768.4	NP_073605.4	0	1	1	1.802888	Q96T37	RBM15_HUMAN		1	3049	+		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)	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	0	1	hg19	c.2149C>T	CCDS822.1	0	.	.	.	.	.	.	.	.	.	.	C	46	12.690748	0.99688	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.87	2.85	0.33270	4.87	2.85	0.33270	.	0.000000	0.37012	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.793	13.5867	0.61935	0.2815:0.7185:0.0:0.0	.	.	.	.	X	717	.	ENSP00000358799:R717X	R	+	1	2	2	RBM15	110685699	110685699	0.623000	0.27094	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.234000	0.43709	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-8.744296	1	0.170000	NM_022768			28	28		342	340	0		1	1		0	0	82	0		1	5.144687e-01	0	3	0	19	0	28	342
KCNA10	3744	broad.mit.edu	37	1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	255					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)			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)	CTCATGTTGAGATTGGGGTCT	0.542																																						ENST00000369771.2	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.933267	0.940000	0.990000																										0				35						c.(763-765)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 10	Dalfampridine(DB06637)						201.0	157.0	172.0					1																	111060647		2203	4300	6503	SO:0001583	missense	3744	0	0					g.chr1:111060647G>T	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.763C>A	chr1.hg19:g.111060647G>T	ENSP00000358786:p.Leu255Ile	1						p.L255I	NM_005549.2	NP_005540.1	0	1	1	1.802888	Q16322	KCA10_HUMAN		1	1150	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Missense_Mutation	SNP	ENST00000369771.2	1	1	hg19	c.763C>A	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067166	0.01934	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.8	1.72	0.24424	5.8	1.72	0.24424	.	.	.	.	.	D	0.83626	0.5295	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74503	-0.3644	9	0.34782	T	0.22	.	5.0872	0.14689	0.0704:0.1144:0.3314:0.4838	.	255	Q16322	KCA10_HUMAN	I	255	ENSP00000358786:L255I	ENSP00000358786:L255I	L	-	1	0	0	KCNA10	110862170	110862170	0.026000	0.19158	0.178000	0.23040	0.216000	0.24613	0.509000	0.22707	0.064000	0.16427	-0.152000	0.13540	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-17.482910	1	0.170000	NM_005549			50	49		414	400	1		1			0	0	104	0		1	0	0	0	0	0	0	50	414
KCNA10	3744	broad.mit.edu	37	1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214					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)			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)	AGCACGGGCAGCGCTGGAACT	0.552																																						ENST00000369771.2	1.000000	0.920000	1	9.500000e-01	0.980000	0.982438	0.980000	0.990000																										0				35						c.(640-642)gCt>gTt		potassium voltage-gated channel, shaker-related subfamily, member 10	Dalfampridine(DB06637)						104.0	104.0	104.0					1																	111060769		2203	4300	6503	SO:0001583	missense	3744	0	0					g.chr1:111060769G>A	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.641C>T	chr1.hg19:g.111060769G>A	ENSP00000358786:p.Ala214Val	1						p.A214V	NM_005549.2	NP_005540.1	0	1	1	1.802888	Q16322	KCA10_HUMAN		1	1028	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Missense_Mutation	SNP	ENST00000369771.2	1	1	hg19	c.641C>T	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669436	0.29693	.	.	ENSG00000143105	ENST00000369771	T	0.63255	-0.03	5.93	5.02	0.67125	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.83483	2.645	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.62326	D	0.03	.	14.0696	0.64852	0.0728:0.0:0.9272:0.0	.	214	Q16322	KCA10_HUMAN	V	214	ENSP00000358786:A214V	ENSP00000358786:A214V	A	-	2	0	0	KCNA10	110862292	110862292	1.000000	0.71417	0.124000	0.21820	0.088000	0.18126	8.023000	0.88764	1.509000	0.48786	-0.137000	0.14449	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_005549			67	67		225	223	1		1			0	0	63	0		1	0	0	0	0	0	0	67	225
KCNA10	3744	broad.mit.edu	37	1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			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)	ATAGAAGGAGATTTCATCAGC	0.488																																						ENST00000369771.2	1.000000	0.920000	1	9.500000e-01	0.980000	0.981906	0.980000	0.990000																										0				35						c.(496-498)aTc>aGc		potassium voltage-gated channel, shaker-related subfamily, member 10	Dalfampridine(DB06637)						85.0	87.0	87.0					1																	111060913		2203	4300	6503	SO:0001583	missense	3744	0	0					g.chr1:111060913A>C	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.497T>G	chr1.hg19:g.111060913A>C	ENSP00000358786:p.Ile166Ser	1						p.I166S	NM_005549.2	NP_005540.1	0	1	1	1.802888	Q16322	KCA10_HUMAN		1	884	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Missense_Mutation	SNP	ENST00000369771.2	1	1	hg19	c.497T>G	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801845	0.70682	.	.	ENSG00000143105	ENST00000369771	T	0.79141	-1.24	5.93	5.93	0.95920	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049923	0.85682	D	0.000000	D	0.89996	0.6877	H	0.94964	3.605	0.58432	D	0.999999	D	0.53462	0.96	D	0.72338	0.977	D	0.92567	0.6063	10	0.87932	D	0	.	15.1961	0.73088	1.0:0.0:0.0:0.0	.	166	Q16322	KCA10_HUMAN	S	166	ENSP00000358786:I166S	ENSP00000358786:I166S	I	-	2	0	0	KCNA10	110862436	110862436	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-20.000000	1	0.170000	NM_005549			69	68		257	255	1		1			0	0	92	0		1	0	0	0	0	0	0	69	257
KCNA3	3738	broad.mit.edu	37	1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	460					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)			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)	AGAGATCCCACAATCTTGCCC	0.537																																						ENST00000369769.2	1.000000	0.900000	1	9.500000e-01	0.980000	0.977970	0.980000	0.990000																										0				38						c.(1378-1380)Gtg>Atg		potassium voltage-gated channel, shaker-related subfamily, member 3	Dalfampridine(DB06637)						110.0	89.0	96.0					1																	111216054		2203	4300	6503	SO:0001583	missense	3738	0	0					g.chr1:111216054C>T	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.1378G>A	chr1.hg19:g.111216054C>T	ENSP00000358784:p.Val460Met	1						p.V460M	NM_002232.3	NP_002223.3	0	1	1	1.802888	P22001	KCNA3_HUMAN		1	1601	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	1	1	hg19	c.1378G>A	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147156	0.77888	.	.	ENSG00000177272	ENST00000369769	D	0.98567	-5.0	5.91	5.91	0.95273	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99269	0.9745	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	460	P22001	KCNA3_HUMAN	M	460	ENSP00000358784:V460M	ENSP00000358784:V460M	V	-	1	0	0	KCNA3	111017577	111017577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_002232			59	59		228	226	1		1	0		0	0	72	0		1	6.926894e-01	0	0	0	11	0	59	228
TTLL10	254173	broad.mit.edu	37	1	1115463	1115463	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Silent_p.R83R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	83					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701																																						ENST00000379290.1	1.000000	0.840000	1	9.100000e-01	0.960000	0.959457	0.960000	0.990000																										0				7						c.(247-249)cgG>cgA		tubulin tyrosine ligase-like family, member 10							25.0	30.0	29.0					1																	1115463		2198	4294	6492	SO:0001819	synonymous_variant	254173	0	0					g.chr1:1115463G>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.249G>A	chr1.hg19:g.1115463G>A		1					TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R|TTLL10-AS1_ENST00000379317.1_RNA	p.R83R			0	1	1	1.838767	Q6ZVT0	TTL10_HUMAN		6	422	+	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;9.48e-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)|Lung SC(97;0.217)	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	1	1	hg19	c.249G>A	CCDS44036.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_153254			28	28		78	78	0		1			0	0	16	0		1	0	0	0	0	0	0	28	78
EXOSC10	5394	broad.mit.edu	37	1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000376936.4	-	10	1268	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M|EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	407					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4	1.000000	0.860000	1	9.200000e-01	0.960000	0.962444	0.960000	0.990000																										0				27						c.(1219-1221)Ctg>Atg		exosome component 10							211.0	187.0	195.0					1																	11142806		2203	4300	6503	SO:0001583	missense	5394	0	0					g.chr1:11142806G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1219C>A	chr1.hg19:g.11142806G>T	ENSP00000366135:p.Leu407Met	1					EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M|EXOSC10_ENST00000485606.1_5'Flank	p.L407M	NM_001001998.1	NP_001001998.1	0	1	1	1.838767	Q01780	EXOSX_HUMAN		10	1268	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)	B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	1	1	hg19	c.1219C>A	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918451	0.73098	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.65178	-0.14;-0.14;-0.14	6.07	4.19	0.49359	6.07	4.19	0.49359	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.977;0.987	T	0.82651	-0.0352	10	0.66056	D	0.02	-16.9186	12.3392	0.55085	0.1378:0.0:0.8622:0.0	.	407;407	Q01780-2;Q01780	.;EXOSX_HUMAN	M	407	ENSP00000366135:L407M;ENSP00000307307:L407M;ENSP00000439473:L407M	ENSP00000307307:L407M	L	-	1	2	2	EXOSC10	11065393	11065393	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.187000	0.58344	1.572000	0.49736	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-3.221883	1	0.170000	NM_001001998			79	78		595	585	1		1	1		0	0	144	0		1	9.999984e-01	0	23	0	119	0	79	595
EXOSC10	5394	broad.mit.edu	37	1	11151608	11151608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11151608G>T	ENST00000376936.4	-	4	468	c.419C>A	c.(418-420)cCt>cAt	p.P140H	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	140					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGGAGGACAGGCTGTTGATT	0.468																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4	0.650000	0.170000	5.200000e-01	2.600000e-01	0.370000	0.394960	0.370000	0.360000																										0				27						c.(418-420)cCt>cAt		exosome component 10							82.0	82.0	82.0					1																	11151608		2203	4300	6503	SO:0001583	missense	5394	0	0					g.chr1:11151608G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.419C>A	chr1.hg19:g.11151608G>T	ENSP00000366135:p.Pro140His	1					EXOSC10_ENST00000544779.1_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	p.P140H	NM_001001998.1	NP_001001998.1	0	1	1	1.838767	Q01780	EXOSX_HUMAN		4	468	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)	B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	1	1	hg19	c.419C>A	CCDS30584.1	0	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970680	0.74246	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.928	D	0.83870	0.0273	9	0.72032	D	0.01	-19.5432	19.5478	0.95307	0.0:0.0:1.0:0.0	.	140;140	Q01780-2;Q01780	.;EXOSX_HUMAN	H	140	.	ENSP00000307307:P140H	P	-	2	0	0	EXOSC10	11074195	11074195	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.022000	0.93678	2.868000	0.98415	0.555000	0.69702	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.359480	1	0.170000	NM_001001998			8	8		225	215	0		1	1		0	0	67	0		9.877183e-01	9.678279e-01	0	13	0	159	0	8	225
KCNA3	3738	broad.mit.edu	37	1	111216303	111216303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	377					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)			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)	TGGCGCGACAGCTTGAAGATG	0.597																																						ENST00000369769.2	1.000000	0.690000	9.700000e-01	7.900000e-01	0.890000	0.884904	0.890000	0.940000																										0				38						c.(1129-1131)Ctg>Ttg		potassium voltage-gated channel, shaker-related subfamily, member 3	Dalfampridine(DB06637)						111.0	111.0	111.0					1																	111216303		2203	4300	6503	SO:0001819	synonymous_variant	3738	0	0					g.chr1:111216303G>A	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.1129C>T	chr1.hg19:g.111216303G>A		1						p.L377L	NM_002232.3	NP_002223.3	0	1	1	1.802888	P22001	KCNA3_HUMAN		1	1352	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	Q5VWN2	Silent	SNP	ENST00000369769.2	1	1	hg19	c.1129C>T	CCDS828.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	1	0	0		2	2	2	0		0	0	132		132	132	1	2.060000	-14.120510	1	0.170000	NM_002232			50	49		511	504	0		1	0		0	0	132	0		1	2.960524e-01	0	0	0	12	0	50	511
CEPT1	10390	broad.mit.edu	37	1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	61					CDP-choline pathway (GO:0006657)|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)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448																																						ENST00000545121.1	1.000000	0.940000	1	9.700000e-01	0.980000	0.990090	0.980000	0.990000																										0				8						c.(181-183)Cgg>Tgg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						158.0	143.0	148.0					1																	111690517		2203	4300	6503	SO:0001583	missense	10390	0	0					g.chr1:111690517C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.181C>T	chr1.hg19:g.111690517C>T	ENSP00000441980:p.Arg61Trp	1					CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	p.R61W	NM_001007794.1	NP_001007795.1	0	1	1	1.802888	Q9Y6K0	CEPT1_HUMAN		2	389	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	1	1	hg19	c.181C>T	CCDS830.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319614	0.81469	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.47869	0.83;0.83	5.3	4.38	0.52667	5.3	4.38	0.52667	.	0.059906	0.64402	D	0.000002	T	0.47857	0.1468	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.71674	0.998;0.96	P;P	0.59115	0.852;0.586	T	0.54057	-0.8350	10	0.66056	D	0.02	-23.4159	10.9488	0.47317	0.3405:0.6595:0.0:0.0	.	61;61	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	61	ENSP00000441980:R61W;ENSP00000349696:R61W	ENSP00000349696:R61W	R	+	1	2	2	CEPT1	111492040	111492040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.208000	0.32345	1.443000	0.47586	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	1	0	1		2	2	2	0		0	0	123		123	120	1	2.060000	-20.000000	1	0.170000	NM_006090			115	112		427	414	1		1	1		0	0	123	0		1	1	0	52	0	78	0	115	427
DENND2D	79961	broad.mit.edu	37	1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	182	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567																																						ENST00000357640.4	1.000000	0.880000	1	9.300000e-01	0.970000	0.970806	0.970000	0.990000																										0				25						c.(544-546)Gct>Act		DENN/MADD domain containing 2D							87.0	79.0	82.0					1																	111738639		2203	4300	6503	SO:0001583	missense	79961	0	0					g.chr1:111738639C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.544G>A	chr1.hg19:g.111738639C>T	ENSP00000350266:p.Ala182Thr	1					DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	p.A182T	NM_024901.3	NP_079177.2	0	1	1	1.802888	Q9H6A0	DEN2D_HUMAN		6	773	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	1	1	hg19	c.544G>A	CCDS831.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.829128	0.96996	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.11930	2.73;2.73	5.29	5.29	0.74685	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01720	-1.1288	10	0.34782	T	0.22	-14.3451	16.4125	0.83723	0.0:1.0:0.0:0.0	.	179;182	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	T	182;179	ENSP00000350266:A182T;ENSP00000358767:A179T	ENSP00000350266:A182T	A	-	1	0	0	DENND2D	111540162	111540162	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.471000	0.83476	0.555000	0.69702	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_024901			53	52		255	248	1		1	1		0	0	80	0		1	1	0	30	0	95	0	53	255
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000376838.1_5'Flank|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	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.I1711I(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)	GGAAGGCATCGATCTGTAACA	0.542																																						ENST00000361445.4	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.923124	0.930000	0.990000																										1	Substitution - coding silent(1)	p.I1711I(1)	large_intestine(1)	149						c.(5131-5133)atC>atT		mechanistic target of rapamycin (serine/threonine kinase)	Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)						152.0	111.0	125.0					1																	11194521		2203	4300	6503	SO:0001819	synonymous_variant	2475	35	121412	44				g.chr1:11194521G>A	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.5133C>T	chr1.hg19:g.11194521G>A		1					MTOR_ENST00000495435.1_5'UTR|MTOR_ENST00000376838.1_5'Flank	p.I1711I	NM_004958.3	NP_004949.1	0	1	1	1.838767	P42345	MTOR_HUMAN		37	5209	-			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	1	1	hg19	c.5133C>T	CCDS127.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-14.056500	1	0.170000	NM_004958			35	34		273	265	1		1	1		0	0	75	0		1	9.873347e-01	0	6	0	50	0	35	273
CHIA	27159	broad.mit.edu	37	1	111854859	111854859	+	Missense_Mutation	SNP	C	C	T	rs61752461	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111854859C>T	ENST00000369740.1	+	4	206	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CHIA_ENST00000343320.6_Missense_Mutation_p.R35W|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	35					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)			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)		GGCCCAGTACCGGCCAGGCCT	0.582													C|||	58	0.0115815	0.0393	0.0086	5008	,	,		18399	0.0		0.0	False		,,,				2504	0.0					ENST00000369740.1	0.990000	0.590000	9.300000e-01	6.900000e-01	0.810000	0.815086	0.810000	0.830000																										0				23						c.(103-105)Cgg>Tgg		chitinase, acidic		C	,TRP/ARG	170,4018		2,166,1926	70.0	74.0	73.0		,103	-0.2	0.2	1	dbSNP_129	73	0,8432		0,0,4216	yes	intron,missense	CHIA	NM_021797.2,NM_201653.2	,101	2,166,6142	TT,TC,CC		0.0,4.0592,1.3471	,probably-damaging	,35/477	111854859	170,12450	2094	4216	6310	SO:0001583	missense	27159	432	121016	59				g.chr1:111854859C>T	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.103C>T	chr1.hg19:g.111854859C>T	ENSP00000358755:p.Arg35Trp	1					CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R35W	p.R35W	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	0	1	1	1.802888	Q9BZP6	CHIA_HUMAN		4	206	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	1	0	hg19	c.103C>T	CCDS41368.1	0	26	0.011904761904761904	23	0.046747967479674794	3	0.008287292817679558	0	0.0	0	0.0	C	17.72	3.459828	0.63401	0.040592	0.0	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.06933	3.24;3.24	5.08	-0.166	0.13351	5.08	-0.166	0.13351	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.47852	U	0.000201	T	0.17874	0.0429	H	0.95294	3.65	0.80722	D	1	P	0.47484	0.896	P	0.51453	0.67	T	0.41998	-0.9477	10	0.66056	D	0.02	-8.6166	13.0776	0.59095	0.7282:0.2718:0.0:0.0	rs61752461	35	Q9BZP6	CHIA_HUMAN	W	35	ENSP00000358755:R35W;ENSP00000341828:R35W	ENSP00000341828:R35W	R	+	1	2	2	CHIA	111656382	111656382	0.000000	0.05858	0.241000	0.24154	0.789000	0.44602	-0.273000	0.08548	0.179000	0.19938	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-2.642100	1	0.170000				34	31		396	385	0		1			0	0	89	0		1	0	0	0	0	0	0	34	396
OVGP1	5016	broad.mit.edu	37	1	111966237	111966237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.D77D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	137					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)			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)		AGAAGAAAAGGTCAAGACCAT	0.433																																						ENST00000369732.3	1.000000	0.870000	1	9.300000e-01	0.970000	0.968335	0.970000	0.990000																										0				39						c.(409-411)gaC>gaT		oviductal glycoprotein 1, 120kDa							110.0	99.0	103.0					1																	111966237		2203	4300	6503	SO:0001819	synonymous_variant	5016	0	0					g.chr1:111966237G>A	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.411C>T	chr1.hg19:g.111966237G>A		1					OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.D77D	p.D137D	NM_002557.3	NP_002548.3	0	1	1	1.802888	Q12889	OVGP1_HUMAN		5	466	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	1	1	hg19	c.411C>T	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982861	0.02180	.	.	ENSG00000085465	ENST00000434331	.	.	.	4.54	1.62	0.23740	4.54	1.62	0.23740	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	5	0.52906	T	0.07	-34.5513	8.1245	0.30990	0.3582:0.0:0.6418:0.0	.	.	.	.	I	7	.	ENSP00000397065:T7I	T	-	2	0	0	OVGP1	111767760	111767760	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	0.627000	0.24506	0.256000	0.21614	-1.094000	0.02160	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_002557			51	48		257	253	1		1	1		0	0	87	0		1	1.345447e-01	0	3	0	1	0	51	257
MTOR	2475	broad.mit.edu	37	1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1703	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)			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)	CTTCCACATGTTTTTCATGTA	0.498																																						ENST00000361445.4	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.939646	0.940000	0.990000																										0				149						c.(5107-5109)aAc>aGc		mechanistic target of rapamycin (serine/threonine kinase)	Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)						183.0	182.0	182.0					1																	11199383		2203	4300	6503	SO:0001583	missense	2475	0	0					g.chr1:11199383T>C	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.5108A>G	chr1.hg19:g.11199383T>C	ENSP00000354558:p.Asn1703Ser	1					MTOR_ENST00000495435.1_5'UTR	p.N1703S	NM_004958.3	NP_004949.1	0	1	1	1.838767	P42345	MTOR_HUMAN		36	5184	-			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	1	1	hg19	c.5108A>G	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261750	0.59431	.	.	ENSG00000198793	ENST00000361445	T	0.68765	-0.35	5.91	5.91	0.95273	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.103030	0.64402	D	0.000002	T	0.56140	0.1965	N	0.24115	0.695	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.52011	-0.8632	10	0.44086	T	0.13	-19.7299	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1703	P42345	MTOR_HUMAN	S	1703	ENSP00000354558:N1703S	ENSP00000354558:N1703S	N	-	2	0	0	MTOR	11121970	11121970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.555000	0.82223	2.254000	0.74563	0.533000	0.62120	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-19.998030	1	0.170000	NM_004958			75	73		666	656	1		1	1		0	0	159	0		1	9.887076e-01	0	9	0	54	0	75	666
WDR77	79084	broad.mit.edu	37	1	111984012	111984012	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		WDR77_ENST00000497278.1_Splice_Site|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTTCTAAACCTAGAAGAAAG	0.498																																						ENST00000235090.5	1.000000	0.900000	1	9.500000e-01	0.980000	0.977959	0.980000	0.990000																										0				10						c.e10-1		WD repeat domain 77							52.0	54.0	53.0					1																	111984012		2203	4300	6503	SO:0001630	splice_region_variant	79084	0	0					g.chr1:111984012C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.870-1G>A	chr1.hg19:g.111984012C>T		1					RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site		NM_024102.2	NP_077007.1	0	1	1	1.802888	Q9BQA1	MEP50_HUMAN		10	1076	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Splice_Site	SNP	ENST00000235090.5	1	1	hg19		CCDS835.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022708	0.75275	.	.	ENSG00000116455	ENST00000235090;ENST00000411751;ENST00000449340	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	WDR77	111785535	111785535	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.441000	0.73439	2.808000	0.96608	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-3.165104	1	0.170000	NM_024102	Intron		58	58		218	213	1		1	0		0	0	66	0		1	4.564091e-02	0	1	0	1	0	58	218
ATP5F1	515	broad.mit.edu	37	1	111999344	111999344	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000483994.1_Silent_p.V99V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	160					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|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)|substantia nigra development (GO:0021762)	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, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403																																						ENST00000369722.3	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.934623	0.940000	0.990000																										0				8						c.(478-480)gtT>gtG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							119.0	111.0	113.0					1																	111999344		2203	4300	6503	SO:0001819	synonymous_variant	515	0	0					g.chr1:111999344T>G	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.480T>G	chr1.hg19:g.111999344T>G		1					ATP5F1_ENST00000483994.1_Silent_p.V99V|ATP5F1_ENST00000369721.4_3'UTR	p.V160V	NM_001688.4	NP_001679.2	0	1	1	1.802888	P24539	AT5F1_HUMAN		5	1086	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	Q9BQ68|Q9BRU8	Silent	SNP	ENST00000369722.3	1	1	hg19	c.480T>G	CCDS836.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-19.793440	1	0.170000	NM_001688			67	67		596	584	1		1	1		0	0	134	0		1	1	0	108	0	643	0	67	596
C1orf162	128346	broad.mit.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral component of membrane (GO:0016021)		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443																																						ENST00000343534.5	1.000000	0.710000	9.800000e-01	8.100000e-01	0.910000	0.901682	0.910000	0.990000																										1	Substitution - Missense(1)	p.A121V(1)	ovary(1)	5						c.(361-363)gCc>gAc		chromosome 1 open reading frame 162							103.0	98.0	99.0					1																	112020639		2203	4300	6503	SO:0001583	missense	128346	0	0					g.chr1:112020639C>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.362C>A	chr1.hg19:g.112020639C>A	ENSP00000344218:p.Ala121Asp	1					C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	p.A121D	NM_174896.2	NP_777556.1	0	1	1	1.802888	Q8NEQ5	CA162_HUMAN		6	612	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	1	1	hg19	c.362C>A	CCDS837.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333575	0.60853	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.60299	0.2;0.21	5.11	4.15	0.48705	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	D	121;96	ENSP00000344218:A121D;ENSP00000358732:A96D	ENSP00000344218:A121D	A	+	2	0	0	C1orf162	111822162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.221884	1	0.170000	NM_174896			37	36		335	324	1		1	0		0	0	101	0		1	1	0	1	0	322	0	37	335
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATGAAAATTTCCATGGTGATG	0.532																																						ENST00000241356.4	1.000000	0.640000	9.800000e-01	7.800000e-01	0.900000	0.884380	0.900000	0.990000																										0				12						c.(55-57)Gaa>Aaa		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)						67.0	56.0	59.0					1																	112045922		2203	4300	6503	SO:0001583	missense	140	0	0					g.chr1:112045922C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.55G>A	chr1.hg19:g.112045922C>T	ENSP00000241356:p.Glu19Lys	1					ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	p.E19K	NM_000677.3	NP_000668.1	0	1	1	1.802888	P33765	AA3R_HUMAN		1	460	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	1	1	hg19	c.55G>A	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149557	0.78001	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37411	1.2;1.2	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000165	T	0.51126	0.1656	M	0.66439	2.03	0.80722	D	1	D;D	0.54601	0.967;0.958	P;D	0.74023	0.765;0.982	T	0.30149	-0.9988	10	0.28530	T	0.3	-22.6307	19.2654	0.93983	0.0:1.0:0.0:0.0	.	19;19	P33765;P33765-2	AA3R_HUMAN;.	K	19	ENSP00000358730:E19K;ENSP00000241356:E19K	ENSP00000241356:E19K	E	-	1	0	0	ADORA3	111847445	111847445	1.000000	0.71417	0.947000	0.38551	0.125000	0.20455	7.487000	0.81328	2.659000	0.90383	0.561000	0.74099	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-9.828106	1	0.170000	NM_000677, NM_020683			17	16		124	122	1		1	0		0	0	29	0		9.999707e-01	9.989237e-01	0	0	0	86	0	17	124
DDX20	11218	broad.mit.edu	37	1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000369702.4	+	11	3022	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	DDX20_ENST00000475700.1_Missense_Mutation_p.R409K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	801					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)			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)		AATGCTCAGAGACATCCAAGT	0.403																																						ENST00000369702.4	1.000000	0.880000	1	9.300000e-01	0.970000	0.970011	0.970000	0.990000																										0				21						c.(2401-2403)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							79.0	80.0	80.0					1																	112309448		2203	4300	6503	SO:0001583	missense	11218	0	0					g.chr1:112309448G>A	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.2402G>A	chr1.hg19:g.112309448G>A	ENSP00000358716:p.Arg801Lys	1					DDX20_ENST00000475700.1_Missense_Mutation_p.R409K	p.R801K	NM_007204.4	NP_009135.4	0	1	1	1.802888	Q9UHI6	DDX20_HUMAN		11	3022	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	1	1	hg19	c.2402G>A	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369712	0.82573	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34275	1.37;1.83	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.169212	0.64402	D	0.000014	T	0.19208	0.0461	L	0.52364	1.645	0.80722	D	1	P;B	0.42518	0.782;0.236	B;B	0.36378	0.223;0.091	T	0.02596	-1.1136	9	.	.	.	-19.141	12.9785	0.58549	0.0743:0.0:0.9257:0.0	.	409;801	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	801;409	ENSP00000358716:R801K;ENSP00000435660:R409K	.	R	+	2	0	0	DDX20	112110971	112110971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.045000	0.64220	2.760000	0.94817	0.655000	0.94253	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_007204			57	56		304	301	1		1	1		0	0	82	0		1	9.989439e-01	0	27	0	30	0	57	304
MTOR	2475	broad.mit.edu	37	1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	rs35972271|rs199611325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1199					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)			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)	TGTCGCACCAGAACTTTATTC	0.398																																						ENST00000361445.4	1.000000	0.860000	1	9.200000e-01	0.970000	0.966302	0.970000	0.990000																										0				149						c.(3595-3597)Ctg>Atg		mechanistic target of rapamycin (serine/threonine kinase)	Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)						91.0	83.0	86.0					1																	11270930		2203	4300	6503	SO:0001583	missense	2475	0	0					g.chr1:11270930G>T	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.3595C>A	chr1.hg19:g.11270930G>T	ENSP00000354558:p.Leu1199Met	1						p.L1199M	NM_004958.3	NP_004949.1	0	1	1	1.838767	P42345	MTOR_HUMAN		24	3671	-			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	1	1	hg19	c.3595C>A	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784378	0.31593	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74737	-0.87	6.06	6.06	0.98353	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.126361	0.52532	D	0.000065	T	0.61185	0.2327	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55166	-0.8183	10	0.32370	T	0.25	-12.831	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	1199	P42345	MTOR_HUMAN	M	1199	ENSP00000354558:L1199M	ENSP00000354558:L1199M	L	-	1	2	2	MTOR	11193517	11193517	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	2.882000	0.98803	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_004958			47	45		232	226	1		1	1		0	0	64	0		1	9.845296e-01	0	11	0	24	0	47	232
KCND3	3752	broad.mit.edu	37	1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000315987.2	-	2	1129	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000369697.1_Missense_Mutation_p.P217Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	217					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)			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)	CTCCCCGCACGGCAGCTCCTT	0.642																																						ENST00000315987.2	1.000000	0.860000	1	9.200000e-01	0.970000	0.966227	0.970000	0.990000																										0				49						c.(649-651)cCg>cAg		potassium voltage-gated channel, Shal-related subfamily, member 3	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)						28.0	29.0	28.0					1																	112524699		2203	4300	6503	SO:0001583	missense	3752	0	0					g.chr1:112524699G>T	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.650C>A	chr1.hg19:g.112524699G>T	ENSP00000319591:p.Pro217Gln	1					KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000369697.1_Missense_Mutation_p.P217Q	p.P217Q	NM_004980.4	NP_004971.2	0	1	1	1.802888	Q9UK17	KCND3_HUMAN		2	1129	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	1	1	hg19	c.650C>A	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090032	0.55968	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.18;-4.19;-4.18	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.64997	1.995	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.26614	0.071;0.071	D	0.92464	0.5980	10	0.52906	T	0.07	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	217;217	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	217	ENSP00000358711:P217Q;ENSP00000319591:P217Q;ENSP00000306923:P217Q	ENSP00000306923:P217Q	P	-	2	0	0	KCND3	112326222	112326222	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_172198			43	43		191	191	1		1	0		0	0	36	0		1	9.251630e-02	0	1	0	2	0	43	191
CTTNBP2NL	55917	broad.mit.edu	37	1	112998846	112998846	+	Silent	SNP	C	C	T	rs551998213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		AGTTTGACATCGAAAGGGAAC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000271277.6	0.620000	0.230000	5.200000e-01	3.100000e-01	0.400000	0.421071	0.400000	0.400000																										0				29						c.(730-732)atC>atT		CTTNBP2 N-terminal like							93.0	104.0	100.0					1																	112998846		2203	4300	6503	SO:0001819	synonymous_variant	55917	2	121410	40				g.chr1:112998846C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.732C>T	chr1.hg19:g.112998846C>T		1						p.I244I	NM_018704.2	NP_061174.1	0	1	1	1.802888	Q9P2B4	CT2NL_HUMAN		6	957	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	1	1	hg19	c.732C>T	CCDS845.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	0	0	0		2	2	2	0		0	0	116		116	114	1	2.060000	-3.449748	1	0.170000	NM_018704			15	15		382	369	0		1	1		0	0	116	0		9.998429e-01	9.868297e-01	0	12	0	172	0	15	382
WNT2B	7482	broad.mit.edu	37	1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369684.4	+	4	1231	c.746G>A	c.(745-747)cGc>cAc	p.R249H	WNT2B_ENST00000369686.5_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	249					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)			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)		TGTACTCTGCGCACCTGCTGG	0.607																																						ENST00000369684.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.980276	0.980000	0.990000																										0				18						c.(745-747)cGc>cAc		wingless-type MMTV integration site family, member 2B							90.0	72.0	78.0					1																	113059807		2203	4300	6503	SO:0001583	missense	7482	0	0					g.chr1:113059807G>A	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.746G>A	chr1.hg19:g.113059807G>A	ENSP00000358698:p.Arg249His	1					WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H|WNT2B_ENST00000369686.5_Missense_Mutation_p.R230H|RP4-671G15.2_ENST00000608357.1_RNA	p.R249H	NM_024494.2	NP_078613.1	0	1	1	1.802888	Q93097	WNT2B_HUMAN		4	1231	+	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)	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	1	1	hg19	c.746G>A	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.060559	0.93846	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77620	-1.11;-1.11;-1.11	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93450	0.6801	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	249;230	Q93097;Q93097-2	WNT2B_HUMAN;.	H	157;230;249	ENSP00000256640:R157H;ENSP00000358700:R230H;ENSP00000358698:R249H	ENSP00000256640:R157H	R	+	2	0	0	WNT2B	112861330	112861330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.599000	0.87857	0.555000	0.69702	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	1	0	0		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_004185			69	66		290	284	1		1	0		0	0	82	0		1	1.723789e-01	0	1	0	3	0	69	290
MTOR	2475	broad.mit.edu	37	1	11317062	11317062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	144	Interaction with NBN.				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)			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)	CAAATTCCACGTACTCAGCGG	0.577																																						ENST00000361445.4	1.000000	0.720000	9.900000e-01	8.400000e-01	0.930000	0.918862	0.930000	0.990000																										0				149						c.(430-432)taC>taT		mechanistic target of rapamycin (serine/threonine kinase)	Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)						76.0	64.0	68.0					1																	11317062		2203	4300	6503	SO:0001819	synonymous_variant	2475	1	121412	21				g.chr1:11317062G>A	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.432C>T	chr1.hg19:g.11317062G>A		1						p.Y144Y	NM_004958.3	NP_004949.1	0	1	1	1.838767	P42345	MTOR_HUMAN		4	508	-			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	1	1	hg19	c.432C>T	CCDS127.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_004958			20	20		113	109	1		1	1		0	0	37	0		9.999962e-01	9.855386e-01	0	17	0	25	0	20	113
ST7L	54879	broad.mit.edu	37	1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	446					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363																																						ENST00000358039.4	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.907469	0.910000	0.990000																										0				15						c.(1336-1338)Ctt>Att		suppression of tumorigenicity 7 like							135.0	125.0	129.0					1																	113098550		2203	4300	6503	SO:0001583	missense	54879	0	0					g.chr1:113098550G>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1336C>A	chr1.hg19:g.113098550G>T	ENSP00000350734:p.Leu446Ile	1					ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I	p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	0	1	1	1.802888	Q8TDW4	ST7L_HUMAN		12	1640	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	1	1	hg19	c.1336C>A	CCDS848.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750582	0.89753	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	L	0.56199	1.76	0.80722	D	1	D;D;P;D;D;P;D;P	0.89917	1.0;0.999;0.697;0.96;0.96;0.919;0.96;0.934	D;D;P;P;P;P;P;P	0.87578	0.997;0.998;0.574;0.668;0.668;0.668;0.668;0.776	T	0.01228	-1.1412	10	0.37606	T	0.19	-13.8533	19.1881	0.93653	0.0:0.0:1.0:0.0	.	390;381;381;446;429;429;446;446	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	I	446;446;227;381;263;429;446;446;429;390	ENSP00000350734:L446I;ENSP00000353972:L446I;ENSP00000445499:L381I;ENSP00000358683:L263I;ENSP00000417140:L429I;ENSP00000358682:L446I;ENSP00000345312:L446I;ENSP00000358680:L429I;ENSP00000444021:L390I	ENSP00000345312:L446I	L	-	1	0	0	ST7L	112900073	112900073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.625000	0.88918	0.585000	0.79938	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000				41	39		371	365	0		1	1		0	0	84	0		1	3.844664e-01	0	4	0	9	0	41	371
MOV10	4343	broad.mit.edu	37	1	113232719	113232719	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000413052.2	+	5	1225	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Splice_Site_p.R223C|MOV10_ENST00000357443.2_Splice_Site_p.R279C	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	279					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)			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)		GAGACCTGACCGGTAACTCCT	0.597																																						ENST00000413052.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.984668	0.980000	0.990000																										0				38						c.(835-837)Cgc>Tgc		Mov10 RISC complex RNA helicase							43.0	44.0	44.0					1																	113232719		2203	4300	6503	SO:0001630	splice_region_variant	4343	1	121412	26				g.chr1:113232719C>T	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.836+1C>T	chr1.hg19:g.113232719C>T		1					MOV10_ENST00000357443.2_Splice_Site_p.R279C|MOV10_ENST00000369644.1_Splice_Site_p.R223C|MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR	p.R279C	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		5	1225	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	1	0	hg19	c.835C>T	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517779	0.64634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.77	0.0455	0.14230	5.77	0.0455	0.14230	.	0.581408	0.19919	N	0.103134	D	0.87204	0.6119	L	0.61218	1.895	0.80722	D	1	P;D;P	0.76494	0.951;0.999;0.951	B;P;B	0.56343	0.326;0.796;0.326	T	0.82729	-0.0313	10	0.42905	T	0.14	-8.0E-4	0.619	0.00775	0.2068:0.3713:0.1398:0.2821	.	223;279;279	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	279;279;279;223;279;217	ENSP00000399797:R279C;ENSP00000358659:R279C;ENSP00000358658:R223C;ENSP00000350028:R279C	ENSP00000285733:R279C	R	+	1	0	0	MOV10	113034242	113034242	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	0.525000	0.22956	0.087000	0.17167	0.561000	0.74099	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.630033	1	0.170000	NM_020963	Missense_Mutation		80	80		299	294	1		1	1		0	0	97	0		1	9.999876e-01	0	8	0	56	0	80	299
MOV10	4343	broad.mit.edu	37	1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A	rs188207425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000413052.2	+	11	2147	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.R530H|MOV10_ENST00000357443.2_Missense_Mutation_p.R586H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	586					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.R586L(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)		AGGGACATCCGCATGGTACCT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19491	0.001		0.0	False		,,,				2504	0.0					ENST00000413052.2	1.000000	0.640000	9.800000e-01	7.800000e-01	0.890000	0.882325	0.890000	0.990000																										1	Substitution - Missense(1)	p.R586L(1)	lung(1)	38						c.(1756-1758)cGc>cAc		Mov10 RISC complex RNA helicase							54.0	48.0	50.0					1																	113238174		2203	4300	6503	SO:0001583	missense	4343	9	121412	37				g.chr1:113238174G>A	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.1757G>A	chr1.hg19:g.113238174G>A	ENSP00000399797:p.Arg586His	1					MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.R530H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000468624.1_3'UTR	p.R586H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		11	2147	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	1	1	hg19	c.1757G>A	CCDS853.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.91	2.377101	0.42105	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.67	2.45	0.29901	5.67	2.45	0.29901	.	0.688797	0.14861	N	0.294066	T	0.59622	0.2207	L	0.39898	1.24	0.09310	N	0.999996	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.005	T	0.55457	-0.8138	10	0.42905	T	0.14	-5.1003	9.3777	0.38292	0.3334:0.0:0.6666:0.0	.	530;586	Q5JR04;Q9HCE1	.;MOV10_HUMAN	H	586;586;530;586;524	ENSP00000399797:R586H;ENSP00000358659:R586H;ENSP00000358658:R530H;ENSP00000350028:R586H	ENSP00000350028:R586H	R	+	2	0	0	MOV10	113039697	113039697	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	1.012000	0.29924	0.768000	0.33290	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.968044	1	0.170000	NM_020963			18	18		138	133	1		1	0		0	0	53	0		9.999830e-01	9.998595e-01	0	0	0	118	0	18	138
MOV10	4343	broad.mit.edu	37	1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000413052.2	+	13	2323	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.D589N|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	645					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)			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)		CATCTTCATCGATGAGGCTGG	0.572																																						ENST00000413052.2	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.942025	0.950000	0.990000																										0				38						c.(1933-1935)Gat>Aat		Mov10 RISC complex RNA helicase							112.0	103.0	106.0					1																	113239108		2203	4300	6503	SO:0001583	missense	4343	0	0					g.chr1:113239108G>A	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.1933G>A	chr1.hg19:g.113239108G>A	ENSP00000399797:p.Asp645Asn	1					MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.D589N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000468624.1_3'UTR	p.D645N	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		13	2323	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	1	1	hg19	c.1933G>A	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.658653	0.96734	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	-15.6343	18.4724	0.90779	0.0:0.0:1.0:0.0	.	645	Q9HCE1	MOV10_HUMAN	N	645;645;589;645;583	ENSP00000399797:D645N;ENSP00000358659:D645N;ENSP00000358658:D589N;ENSP00000350028:D645N	ENSP00000350028:D645N	D	+	1	0	0	MOV10	113040631	113040631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.680000	0.91292	0.655000	0.94253	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1		18	2	2	0		0	1	104		104	102	1	2.060000	-3.318794	1	0.170000	NM_020963			60	57		495	478	1		1	0		0	0	104	0		9.999997e-01	9.999541e-01	0	0	0	120	0	60	495
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000413052.2	+	18	2974	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M	MOV10_ENST00000369645.1_Splice_Site_p.V862M|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Splice_Site_p.V806M|MOV10_ENST00000357443.2_Splice_Site_p.V862M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	862					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.V862L(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)		TCCCCACTAGGTGGGTTCAGT	0.567																																						ENST00000413052.2	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.942578	0.950000	0.990000																										1	Substitution - Missense(1)	p.V862L(1)	lung(1)	38						c.(2584-2586)Gtg>Atg		Mov10 RISC complex RNA helicase							99.0	101.0	100.0					1																	113242307		2203	4300	6503	SO:0001630	splice_region_variant	4343	0	0					g.chr1:113242307G>A	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.2584-1G>A	chr1.hg19:g.113242307G>A		1					MOV10_ENST00000357443.2_Splice_Site_p.V862M|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Splice_Site_p.V806M|MOV10_ENST00000369645.1_Splice_Site_p.V862M|MOV10_ENST00000468624.1_3'UTR	p.V862M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		18	2974	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	1	0	hg19	c.2584G>A	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	M	862;862;806;862;800	ENSP00000399797:V862M;ENSP00000358659:V862M;ENSP00000358658:V806M;ENSP00000350028:V862M	ENSP00000350028:V862M	V	+	1	0	0	MOV10	113043830	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	0		2	2	2	0		0	0	99		99	99	1	2.060000	-19.869530	1	0.170000	NM_020963	Missense_Mutation		60	60		493	481	1		1	1		0	0	99	0		1	9.996151e-01	0	2	0	94	0	60	493
MOV10	4343	broad.mit.edu	37	1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000413052.2	+	18	3034	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Nonsense_Mutation_p.R826*|MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					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)			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)		CTCCACCGTGCGAAGCAGCCA	0.552																																						ENST00000413052.2	1.000000	0.840000	9.900000e-01	9.000000e-01	0.950000	0.953132	0.950000	0.990000																										0				38						c.(2644-2646)Cga>Tga		Mov10 RISC complex RNA helicase							151.0	157.0	155.0					1																	113242367		2203	4300	6503	SO:0001587	stop_gained	4343	0	0					g.chr1:113242367C>T	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.2644C>T	chr1.hg19:g.113242367C>T	ENSP00000399797:p.Arg882*	1					MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Nonsense_Mutation_p.R826*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR	p.R882*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		18	3034	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	0	1	hg19	c.2644C>T	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	48	14.608624	0.99803	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.1	3.18	0.36537	5.1	3.18	0.36537	.	0.057790	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9439	9.991	0.41872	0.0:0.7847:0.1389:0.0764	.	.	.	.	X	882;882;826;882;820	.	ENSP00000350028:R882X	R	+	1	2	2	MOV10	113043890	113043890	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	4.821000	0.62679	0.524000	0.28502	0.467000	0.42956	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	0		2	2	2	0		0	0	174		174	171	1	2.060000	-20.000000	1	0.170000	NM_020963			95	93		821	809	1		1	1		0	0	174	0		1	9.999986e-01	0	4	0	157	0	95	821
MOV10	4343	broad.mit.edu	37	1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000413052.2	+	21	3327	c.2937C>A	c.(2935-2937)gaC>gaA	p.D979E	MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.D923E|MOV10_ENST00000357443.2_Missense_Mutation_p.D979E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	979					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)			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)		ACAGCCATGACTACCTCCCCC	0.602																																						ENST00000413052.2	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.944496	0.950000	0.990000																										0				38						c.(2935-2937)gaC>gaA		Mov10 RISC complex RNA helicase							80.0	83.0	82.0					1																	113243054		2203	4300	6503	SO:0001583	missense	4343	0	0					g.chr1:113243054C>A	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.2937C>A	chr1.hg19:g.113243054C>A	ENSP00000399797:p.Asp979Glu	1					MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.D923E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR	p.D979E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	0	1	1	1.802888	Q9HCE1	MOV10_HUMAN		21	3327	+	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)	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	1	1	hg19	c.2937C>A	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072504	0.07228	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91011	-2.77;-2.77;-2.76;-2.77	5.11	2.12	0.27331	5.11	2.12	0.27331	.	0.578929	0.17478	N	0.172838	T	0.60130	0.2245	N	0.22421	0.69	0.20307	N	0.999918	B	0.16603	0.018	B	0.11329	0.006	T	0.54655	-0.8261	10	0.02654	T	1	-9.6831	6.2632	0.20912	0.0:0.6594:0.1626:0.1779	.	979	Q9HCE1	MOV10_HUMAN	E	979;979;923;979;917	ENSP00000399797:D979E;ENSP00000358659:D979E;ENSP00000358658:D923E;ENSP00000350028:D979E	ENSP00000350028:D979E	D	+	3	2	2	MOV10	113044577	113044577	0.065000	0.20965	0.005000	0.12908	0.003000	0.03518	0.539000	0.23175	0.635000	0.30488	-0.251000	0.11542	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_020963			39	39		259	250	1		1	1		0	0	37	0		1	9.999983e-01	0	3	0	134	0	39	259
SLC16A1	6566	broad.mit.edu	37	1	113471841	113471841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Silent_p.I30I|SLC16A1_ENST00000369626.3_Silent_p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	30					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)			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)	AAGAGAAGCCGATGGAAATGA	0.478																																						ENST00000538576.1	0.970000	0.420000	8.700000e-01	5.500000e-01	0.700000	0.713374	0.700000	0.710000																										0				20						c.(88-90)atC>atT		solute carrier family 16 (monocarboxylate transporter), member 1	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)						57.0	55.0	56.0					1																	113471841		2203	4300	6503	SO:0001819	synonymous_variant	6566	1	121412	27				g.chr1:113471841G>A	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.90C>T	chr1.hg19:g.113471841G>A		1					SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000433570.4_Silent_p.I30I	p.I30I	NM_001166496.1	NP_001159968.1	0	1	1	1.802888	P53985	MOT1_HUMAN		2	921	-	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)	Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	1	1	hg19	c.90C>T	CCDS858.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.143184	1	0.170000	NM_003051			15	15		204	202	1		1	1		0	0	59	0		9.998811e-01	8.948020e-01	0	12	0	44	0	15	204
LRIG2	9860	broad.mit.edu	37	1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	614	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478																																						ENST00000361127.5	1.000000	0.950000	1	9.700000e-01	0.990000	0.992196	0.990000	0.990000																										0				31						c.(1840-1842)cGc>cAc		leucine-rich repeats and immunoglobulin-like domains 2							145.0	139.0	141.0					1																	113655143		2203	4300	6503	SO:0001583	missense	9860	0	0					g.chr1:113655143G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>A	chr1.hg19:g.113655143G>A	ENSP00000355396:p.Arg614His	1					LRIG2_ENST00000492207.1_3'UTR	p.R614H	NM_014813.1	NP_055628.1	0	1	1	1.802888	O94898	LRIG2_HUMAN		14	2039	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	1	1	hg19	c.1841G>A	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	g	33	5.254238	0.95336	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.45	5.45	0.79879	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73388	-0.3998	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	H	614	ENSP00000355396:R614H	ENSP00000355396:R614H	R	+	2	0	0	LRIG2	113456666	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-20.000000	1	0.170000	NM_014813			134	132		465	456	1		1	1		0	0	110	0		1	5.652814e-01	0	2	0	6	0	134	465
LRIG2	9860	broad.mit.edu	37	1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	723	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483																																						ENST00000361127.5	1.000000	0.660000	9.700000e-01	7.700000e-01	0.880000	0.876683	0.880000	0.990000																										0				31						c.(2167-2169)Cct>Act		leucine-rich repeats and immunoglobulin-like domains 2							99.0	91.0	93.0					1																	113657135		2203	4300	6503	SO:0001583	missense	9860	0	0					g.chr1:113657135C>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2167C>A	chr1.hg19:g.113657135C>A	ENSP00000355396:p.Pro723Thr	1					LRIG2_ENST00000492207.1_3'UTR	p.P723T	NM_014813.1	NP_055628.1	0	1	1	1.802888	O94898	LRIG2_HUMAN		15	2365	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	1	1	hg19	c.2167C>A	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617751	0.87359	.	.	ENSG00000198799	ENST00000361127	T	0.74315	-0.83	5.3	5.3	0.74995	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93558	0.6892	10	0.87932	D	0	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	723	O94898	LRIG2_HUMAN	T	723	ENSP00000355396:P723T	ENSP00000355396:P723T	P	+	1	0	0	LRIG2	113458658	113458658	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_014813			30	29		287	280	0		1	0		0	0	56	0		1	6.106347e-01	0	1	0	20	0	30	287
LRIG2	9860	broad.mit.edu	37	1	113662141	113662141	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	989					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438																																						ENST00000361127.5	1.000000	0.740000	9.900000e-01	8.500000e-01	0.930000	0.922804	0.930000	0.990000																										0				31						c.(2965-2967)agC>agT		leucine-rich repeats and immunoglobulin-like domains 2							98.0	94.0	96.0					1																	113662141		2203	4300	6503	SO:0001819	synonymous_variant	9860	0	0					g.chr1:113662141C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2967C>T	chr1.hg19:g.113662141C>T		1					LRIG2_ENST00000492207.1_3'UTR	p.S989S	NM_014813.1	NP_055628.1	0	1	1	1.802888	O94898	LRIG2_HUMAN		17	3165	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	Q9NSN2	Silent	SNP	ENST00000361127.5	1	1	hg19	c.2967C>T	CCDS30808.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_014813			26	25		173	172	0		1	0		0	0	53	0		9.999999e-01	7.793822e-01	0	1	0	20	0	26	173
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	995					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.0					ENST00000361127.5	1.000000	0.830000	1	9.100000e-01	0.960000	0.957712	0.960000	0.990000																										0				31						c.(2983-2985)Cgg>Tgg		leucine-rich repeats and immunoglobulin-like domains 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	47.0	50.0		2983	5.9	0.4	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	995/1066	113666508	1,13005	2203	4300	6503	SO:0001583	missense	9860	5	121412	36				g.chr1:113666508C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2983C>T	chr1.hg19:g.113666508C>T	ENSP00000355396:p.Arg995Trp	1					LRIG2_ENST00000492207.1_3'UTR	p.R995W	NM_014813.1	NP_055628.1	0	1	1	1.802888	O94898	LRIG2_HUMAN		18	3181	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	1	1	hg19	c.2983C>T	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	2	LRIG2	113468031	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_014813			30	30		108	104	1		1	1		0	0	27	0		1	9.891066e-01	0	7	0	21	0	30	108
MAGI3	260425	broad.mit.edu	37	1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000307546.9	+	10	1938	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	646	PDZ 3. {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)			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)		TAATTAAGGAAATATACCATC	0.408																																						ENST00000307546.9	1.000000	0.850000	1	9.200000e-01	0.960000	0.963539	0.960000	0.990000																										0				41						c.(1861-1863)gaA>gaC		membrane associated guanylate kinase, WW and PDZ domain containing 3							99.0	101.0	100.0					1																	114185035		2203	4300	6503	SO:0001583	missense	260425	0	0					g.chr1:114185035A>C	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.1863A>C	chr1.hg19:g.114185035A>C	ENSP00000304604:p.Glu621Asp	1					MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	p.E621D	NM_001142782.1	NP_001136254.1	0	1	1	1.802888	Q5TCQ9	MAGI3_HUMAN		10	1938	+	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)	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	1	1	hg19	c.1863A>C	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827074	0.50739	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.47	0.0969	0.14492	5.47	0.0969	0.14492	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.84948	2.725	0.80722	D	1	B;D;B	0.76494	0.048;0.999;0.092	B;D;B	0.71184	0.088;0.972;0.207	T	0.63368	-0.6653	10	0.87932	D	0	-25.6132	9.6773	0.40047	0.5907:0.0:0.4093:0.0	.	621;621;646	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	646;621;621;621	ENSP00000358630:E646D;ENSP00000304604:E621D;ENSP00000358628:E621D;ENSP00000358624:E621D	ENSP00000304604:E621D	E	+	3	2	2	MAGI3	113986558	113986558	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.656000	0.46716	0.128000	0.18479	0.455000	0.32223	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_152900			47	47		252	249	1		1	1		0	0	53	0		1	4.314940e-01	0	2	0	7	0	47	252
MAGI3	260425	broad.mit.edu	37	1	114196597	114196597	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114196597T>C	ENST00000307546.9	+	15	2661	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	MAGI3_ENST00000369615.1_Silent_p.F862F|MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369611.4_Silent_p.F862F	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	887					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAAGGATTTGGCTTTGTCA	0.517																																						ENST00000307546.9	0.400000	0.200000	3.500000e-01	2.500000e-01	0.290000	0.305414	0.290000	0.300000																										0				41						c.(2584-2586)ttT>ttC		membrane associated guanylate kinase, WW and PDZ domain containing 3							201.0	208.0	205.0					1																	114196597		2203	4300	6503	SO:0001819	synonymous_variant	260425	0	0					g.chr1:114196597T>C	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.2586T>C	chr1.hg19:g.114196597T>C		1					MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369615.1_Silent_p.F862F|MAGI3_ENST00000369611.4_Silent_p.F862F	p.F862F	NM_001142782.1	NP_001136254.1	0	1	1	1.802888	Q5TCQ9	MAGI3_HUMAN		15	2661	+	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)	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	1	1	hg19	c.2586T>C	CCDS44196.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	0	0	1		2	2	2	0		0	0	242		242	240	1	2.060000	-20.000000	1	0.170000	NM_152900			35	35		1222	1202	0		1	1		0	0	242	0		1	1.501503e-01	0	2	0	22	0	35	1222
MAGI3	260425	broad.mit.edu	37	1	114215988	114215988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000307546.9	+	19	3165	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000369615.1_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369611.4_Silent_p.G1030G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1055					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478																																						ENST00000307546.9	1.000000	0.930000	1	9.600000e-01	0.980000	0.986538	0.980000	0.990000																										0				41						c.(3088-3090)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							77.0	85.0	82.0					1																	114215988		2203	4300	6503	SO:0001819	synonymous_variant	260425	0	0					g.chr1:114215988C>T	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.3090C>T	chr1.hg19:g.114215988C>T		1					MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369615.1_Silent_p.G1030G|MAGI3_ENST00000369611.4_Silent_p.G1030G	p.G1030G	NM_001142782.1	NP_001136254.1	0	1	1	1.802888	Q5TCQ9	MAGI3_HUMAN		19	3165	+	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)	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	1	1	hg19	c.3090C>T	CCDS44196.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_152900			99	99		430	426	1		1	1		0	0	119	0		1	8.740307e-01	0	5	0	13	0	99	430
PHTF1	10745	broad.mit.edu	37	1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T	rs371523931		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	260					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)			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)		TCTTACCCTACGGCACTTTTC	0.358																																						ENST00000369604.1	1.000000	0.830000	9.900000e-01	9.000000e-01	0.960000	0.952808	0.960000	0.990000																										0				27						c.(778-780)cGt>cAt		putative homeodomain transcription factor 1		C	HIS/ARG	0,4406		0,0,2203	146.0	146.0	146.0		779	-0.9	0.0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHTF1	NM_006608.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	260/763	114255905	1,13005	2203	4300	6503	SO:0001583	missense	10745	6	121410	42				g.chr1:114255905C>T	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.779G>A	chr1.hg19:g.114255905C>T	ENSP00000358617:p.Arg260His	1					PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR	p.R260H			0	1	1	1.802888	Q9UMS5	PHTF1_HUMAN		8	1262	-	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)	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	1	1	hg19	c.779G>A	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.401|9.401	1.077906|1.077906	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.55|5.55	-0.91|-0.91	0.10511|0.10511	5.55|5.55	-0.91|-0.91	0.10511|0.10511	.|.	0.913966|.	0.09577|.	N|.	0.783441|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.04508|0.04508	-0.205|-0.205	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.41963|0.41963	-0.9479|-0.9479	9|5	0.27082|.	T|.	0.32|.	-0.2427|-0.2427	6.2443|6.2443	0.20807|0.20807	0.0:0.2247:0.1549:0.6204|0.0:0.2247:0.1549:0.6204	.|.	215;260;15;260|.	F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2|.	.;PHTF1_HUMAN;.;.|.	H|I	215;260;207;215;207;260;260|16	.|.	ENSP00000350428:R260H|.	R|V	-|-	2|1	0|0	0|0	PHTF1|PHTF1	114057428|114057428	114057428|114057428	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.939000|0.939000	0.58152|0.58152	-0.664000|-0.664000	0.05292|0.05292	-0.036000|-0.036000	0.13669|0.13669	0.467000|0.467000	0.42956|0.42956	CGT|GTA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-19.970260	1	0.170000	NM_006608			58	57		429	418	1		1	1		0	0	81	0		1	9.644911e-01	0	3	0	39	0	58	429
RSBN1	54665	broad.mit.edu	37	1	114340180	114340180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	394						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		aagcaagaAACTCCTCAGAAA	0.428																																						ENST00000261441.5	1.000000	0.580000	9.700000e-01	7.400000e-01	0.880000	0.861334	0.880000	0.990000																										0				29						c.(1180-1182)gaG>gaA		round spermatid basic protein 1							41.0	39.0	40.0					1																	114340180		2203	4299	6502	SO:0001819	synonymous_variant	54665	0	0					g.chr1:114340180C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1182G>A	chr1.hg19:g.114340180C>T		1						p.E394E	NM_018364.3	NP_060834.2	0	1	1	1.802888	Q5VWQ0	RSBN1_HUMAN		2	1245	-	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)	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	1	1	hg19	c.1182G>A	CCDS862.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.976170	1	0.170000	NM_018364			13	13		96	95	1		1	1		0	0	27	0		9.996231e-01	9.053019e-01	0	12	0	21	0	13	96
PTPN22	26191	broad.mit.edu	37	1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	25	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413																																						ENST00000359785.5	1.000000	0.910000	1	9.500000e-01	0.980000	0.981217	0.980000	0.990000																										0				21						c.(73-75)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							125.0	130.0	128.0					1																	114414173		2203	4300	6503	SO:0001583	missense	26191	0	0					g.chr1:114414173C>T	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.73G>A	chr1.hg19:g.114414173C>T	ENSP00000352833:p.Ala25Thr	1					PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	0	1	1	1.802888	Q9Y2R2	PTN22_HUMAN		1	208	-	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)	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	1	1	hg19	c.73G>A	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200671	0.06219	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.76;3.69;2.76;3.58;2.55	5.28	3.37	0.38596	5.28	3.37	0.38596	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.213663	0.38492	N	0.001668	T	0.06234	0.0161	L	0.41906	1.305	0.36113	D	0.844951	P;B;P;B;B;B	0.52463	0.946;0.002;0.953;0.004;0.371;0.001	P;B;B;B;B;B	0.46452	0.517;0.002;0.375;0.008;0.092;0.003	T	0.26677	-1.0096	10	0.42905	T	0.14	.	8.2142	0.31501	0.1385:0.7143:0.0:0.1471	.	25;25;25;25;25;25	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	25	ENSP00000433141:A25T;ENSP00000352833:A25T;ENSP00000435176:A25T;ENSP00000388229:A25T;ENSP00000432674:A25T	ENSP00000346621:A25T	A	-	1	0	0	PTPN22	114215696	114215696	0.869000	0.29996	0.777000	0.31699	0.001000	0.01503	0.975000	0.29449	0.355000	0.24131	-2.636000	0.00152	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	0	0	0		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_015967			73	72		312	300	1		1	0		0	0	65	0		1	8.340681e-01	0	0	0	16	0	73	312
BCL2L15	440603	broad.mit.edu	37	1	114429225	114429225	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393316.3	-	2	354	c.183T>C	c.(181-183)ggT>ggC	p.G61G	AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	61					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				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)		TGAACTGGTCACCCAACATCC	0.448																																						ENST00000393316.3	1.000000	0.850000	1	9.200000e-01	0.960000	0.963132	0.960000	0.990000																										0				9						c.(181-183)ggT>ggC		BCL2-like 15							122.0	106.0	111.0					1																	114429225		2203	4300	6503	SO:0001819	synonymous_variant	440603	0	0					g.chr1:114429225A>G		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.183T>C	chr1.hg19:g.114429225A>G		1					BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000471267.1_Silent_p.G61G	p.G61G	NM_001010922.2	NP_001010922.1	0	1	1	1.802888	Q5TBC7	B2L15_HUMAN		2	354	-	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)	A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	1	1	hg19	c.183T>C	CCDS30809.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.999390	1	0.170000	NM_001010922			41	39		192	190	1		1	1		0	0	44	0		1	9.991117e-01	0	21	0	32	0	41	192
AP4B1	10717	broad.mit.edu	37	1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A	rs553444896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	416					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502																																						ENST00000369569.1	1.000000	0.880000	1	9.400000e-01	0.970000	0.972752	0.970000	0.990000																										0				25						c.(1246-1248)aCt>aTt		adaptor-related protein complex 4, beta 1 subunit							135.0	113.0	121.0					1																	114440517		2203	4300	6503	SO:0001583	missense	10717	0	0					g.chr1:114440517G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1247C>T	chr1.hg19:g.114440517G>A	ENSP00000358582:p.Thr416Ile	1					AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR	p.T416I	NM_001253852.1	NP_001240781.1	0	1	1	1.802888	Q9Y6B7	AP4B1_HUMAN		7	1527	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	1	1	hg19	c.1247C>T	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887404	0.52014	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25414	1.8;1.8;1.8	5.52	4.6	0.57074	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.314320	0.37437	N	0.002085	T	0.04092	0.0114	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.012	B;B;B	0.19666	0.026;0.018;0.014	T	0.16100	-1.0414	10	0.40728	T	0.16	.	9.7978	0.40746	0.1548:0.0:0.8452:0.0	.	248;416;317	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	I	248;416;416	ENSP00000358580:T248I;ENSP00000358582:T416I;ENSP00000256658:T416I	ENSP00000256658:T416I	T	-	2	0	0	AP4B1	114242040	114242040	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	3.377000	0.52425	2.588000	0.87417	0.462000	0.41574	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_006594			50	50		204	196	1		1	1		0	0	90	0		1	9.997163e-01	0	18	0	35	0	50	204
AP4B1	10717	broad.mit.edu	37	1	114442734	114442734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442734C>A	ENST00000369569.1	-	5	1186	c.906G>T	c.(904-906)caG>caT	p.Q302H	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	302					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAAGATCTGGCGTACAT	0.473																																						ENST00000369569.1	0.380000	0.120000	3.100000e-01	1.700000e-01	0.230000	0.242968	0.230000	0.230000																										0				25						c.(904-906)caG>caT		adaptor-related protein complex 4, beta 1 subunit							86.0	92.0	90.0					1																	114442734		2203	4300	6503	SO:0001583	missense	10717	0	0					g.chr1:114442734C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.906G>T	chr1.hg19:g.114442734C>A	ENSP00000358582:p.Gln302His	1					AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	p.Q302H	NM_001253852.1	NP_001240781.1	0	1	1	1.802888	Q9Y6B7	AP4B1_HUMAN		5	1186	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	0	1	hg19	c.906G>T	CCDS865.1	0	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647931	0.67358	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.62;1.76;1.76	5.03	5.03	0.67393	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.175708	0.50627	D	0.000103	T	0.29355	0.0731	L	0.46157	1.445	0.51233	D	0.999914	D;P;P;B	0.57571	0.98;0.75;0.915;0.021	P;P;P;B	0.60236	0.871;0.637;0.549;0.071	T	0.01639	-1.1306	10	0.54805	T	0.06	.	13.0983	0.59206	0.0:0.9224:0.0:0.0776	.	209;134;302;203	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	134;302;302;209;227;134	ENSP00000358580:Q134H;ENSP00000358582:Q302H;ENSP00000256658:Q302H;ENSP00000358579:Q209H;ENSP00000358577:Q227H;ENSP00000393622:Q134H	ENSP00000256658:Q302H	Q	-	3	2	2	AP4B1	114244257	114244257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.487000	0.83934	0.462000	0.41574	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	0	1		17	4	2	1		1	1	114		114	114	1	2.060000	-9.918205	1	0.170000	NM_006594			12	12		552	543	0		0	1		1	0	114	0		2.116697e-01	4.042687e-02	0	4	0	49	0	12	552
AP4B1	10717	broad.mit.edu	37	1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	239					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453																																						ENST00000369569.1	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.913694	0.920000	0.990000																										0				25						c.(715-717)Ctg>Atg		adaptor-related protein complex 4, beta 1 subunit							98.0	92.0	94.0					1																	114442925		2203	4300	6503	SO:0001583	missense	10717	0	0					g.chr1:114442925G>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.715C>A	chr1.hg19:g.114442925G>T	ENSP00000358582:p.Leu239Met	1					AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	p.L239M	NM_001253852.1	NP_001240781.1	0	1	1	1.802888	Q9Y6B7	AP4B1_HUMAN		5	995	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	1	1	hg19	c.715C>A	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310287	0.60414	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;2.52;1.73;1.73;1.73	5.2	2.25	0.28309	5.2	2.25	0.28309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.070081	0.64402	D	0.000014	T	0.30070	0.0753	M	0.78456	2.415	0.52501	D	0.999951	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.994;0.995;0.994	T	0.08911	-1.0699	10	0.36615	T	0.2	-4.2859	4.4719	0.11717	0.3052:0.0:0.5495:0.1454	.	146;71;239;140	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	M	71;239;239;146;164;71;239	ENSP00000358580:L71M;ENSP00000358582:L239M;ENSP00000256658:L239M;ENSP00000358579:L146M;ENSP00000358577:L164M;ENSP00000393622:L71M;ENSP00000358584:L239M	ENSP00000256658:L239M	L	-	1	2	2	AP4B1	114244448	114244448	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	2.477000	0.45180	0.270000	0.21984	-0.258000	0.10820	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-13.732600	1	0.170000	NM_006594			36	36		303	298	1		1	1		0	0	61	0		1	9.581819e-01	0	8	0	38	0	36	303
AP4B1	10717	broad.mit.edu	37	1	114443916	114443916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	187					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418																																						ENST00000369569.1	1.000000	0.930000	1	9.600000e-01	0.980000	0.985976	0.980000	0.990000																										0				25						c.(559-561)Ctg>Ttg		adaptor-related protein complex 4, beta 1 subunit							105.0	103.0	104.0					1																	114443916		2203	4300	6503	SO:0001819	synonymous_variant	10717	0	0					g.chr1:114443916G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.559C>T	chr1.hg19:g.114443916G>A		1					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1-AS1_ENST00000419536.1_RNA	p.L187L	NM_001253852.1	NP_001240781.1	0	1	1	1.802888	Q9Y6B7	AP4B1_HUMAN		4	839	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	1	1	hg19	c.559C>T	CCDS865.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_006594			88	84		339	332	1		1	1		0	0	87	0		1	9.999290e-01	0	24	0	32	0	88	339
AP4B1	10717	broad.mit.edu	37	1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|DCLRE1B_ENST00000369563.3_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	89					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522																																						ENST00000369569.1	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.899661	0.910000	0.990000																										0				25						c.(265-267)aCg>aTg		adaptor-related protein complex 4, beta 1 subunit							136.0	112.0	120.0					1																	114445332		2203	4300	6503	SO:0001583	missense	10717	0	0					g.chr1:114445332G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.266C>T	chr1.hg19:g.114445332G>A	ENSP00000358582:p.Thr89Met	1					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1-AS1_ENST00000419536.1_RNA|DCLRE1B_ENST00000369563.3_5'Flank	p.T89M	NM_001253852.1	NP_001240781.1	0	1	1	1.802888	Q9Y6B7	AP4B1_HUMAN		2	546	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	1	1	hg19	c.266C>T	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983200	0.93044	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.3	5.3	0.74995	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.90198	3.095	0.35726	D	0.817514	D;D	0.89917	1.0;1.0	D;D	0.85130	0.953;0.997	T	0.70439	-0.4871	10	0.72032	D	0.01	-6.4216	18.9713	0.92716	0.0:0.0:1.0:0.0	.	89;89	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	M	89	ENSP00000358582:T89M;ENSP00000256658:T89M;ENSP00000358579:T89M;ENSP00000358584:T89M	ENSP00000256658:T89M	T	-	2	0	0	AP4B1	114246855	114246855	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.244000	0.78228	2.465000	0.83290	0.655000	0.94253	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-12.235850	1	0.170000	NM_006594			31	31		269	266	1		1	1		0	0	57	0		1	9.442244e-01	0	8	0	36	0	31	269
DCLRE1B	64858	broad.mit.edu	37	1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	57					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TACAGCCCACCTCTTGCATCG	0.587								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000369563.3	1.000000	0.880000	1	9.300000e-01	0.970000	0.970397	0.970000	0.990000																										0				18						c.(169-171)Ctc>Ttc	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							50.0	48.0	48.0					1																	114448377		2203	4300	6503	SO:0001583	missense	64858	0	0					g.chr1:114448377C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.169C>T	chr1.hg19:g.114448377C>T	ENSP00000358576:p.Leu57Phe	1		OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1458	AP4B1_ENST00000369569.1_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000256658.4_5'Flank	p.L57F	NM_022836.3	NP_073747.1	0	1	1	1.802888	Q9H816	DCR1B_HUMAN		1	615	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	1	1	hg19	c.169C>T	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874689	0.91664	.	.	ENSG00000118655	ENST00000369563	T	0.77750	-1.12	5.56	5.56	0.83823	5.56	5.56	0.83823	Beta-lactamase-like (1);	0.059585	0.64402	D	0.000002	D	0.85725	0.5763	M	0.84846	2.72	0.51767	D	0.999937	D	0.89917	1.0	D	0.77557	0.99	D	0.87258	0.2277	10	0.62326	D	0.03	-20.3906	10.9353	0.47241	0.1448:0.7154:0.1397:0.0	.	57	Q9H816	DCR1B_HUMAN	F	57	ENSP00000358576:L57F	ENSP00000358576:L57F	L	+	1	0	0	DCLRE1B	114249900	114249900	0.895000	0.30542	0.998000	0.56505	0.891000	0.51852	1.808000	0.38912	2.609000	0.88269	0.561000	0.74099	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_022836			50	47		228	224	0		1	1		0	0	38	0		1	9.853061e-01	0	8	0	25	0	50	228
DCLRE1B	64858	broad.mit.edu	37	1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TGTCGCAGCACTGAAGCCTTG	0.577								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3	0.730000	0.280000	6.100000e-01	3.700000e-01	0.480000	0.498420	0.480000	0.470000																										0				18						c.(865-867)Ctg>Atg	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							104.0	92.0	96.0					1																	114454079		2203	4300	6503	SO:0001583	missense	64858	0	0					g.chr1:114454079C>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.865C>A	chr1.hg19:g.114454079C>A	ENSP00000358576:p.Leu289Met	1					DCLRE1B_ENST00000466480.1_3'UTR	p.L289M	NM_022836.3	NP_073747.1	0	1	1	1.802888	Q9H816	DCR1B_HUMAN		4	1311	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	1	1	hg19	c.865C>A	CCDS866.1	0	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183116	0.78677	.	.	ENSG00000118655	ENST00000369563	T	0.52295	0.67	6.02	5.11	0.69529	6.02	5.11	0.69529	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.81614	2.55	0.53005	D	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.68622	-0.5360	10	0.62326	D	0.03	-15.6402	13.2133	0.59839	0.0:0.8685:0.0:0.1315	.	289	Q9H816	DCR1B_HUMAN	M	289	ENSP00000358576:L289M	ENSP00000358576:L289M	L	+	1	2	2	DCLRE1B	114255602	114255602	0.998000	0.40836	0.810000	0.32431	0.985000	0.73830	3.968000	0.56809	1.572000	0.49736	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-17.209400	1	0.170000	NM_022836			16	16		339	336	0		1	1		0	0	68	0		9.999332e-01	4.774628e-01	0	3	0	31	0	16	339
HIPK1	204851	broad.mit.edu	37	1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	151					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)			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)		CAAAACAGGACTGTGGTGGGT	0.493																																						ENST00000369558.1	1.000000	0.880000	1	9.300000e-01	0.970000	0.971837	0.970000	0.990000																										0				39						c.(451-453)aCt>aAt		homeodomain interacting protein kinase 1							57.0	55.0	56.0					1																	114483457		2203	4300	6503	SO:0001583	missense	204851	0	0					g.chr1:114483457C>A	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.452C>A	chr1.hg19:g.114483457C>A	ENSP00000358571:p.Thr151Asn	1					HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N	p.T151N			0	1	1	1.802888	Q86Z02	HIPK1_HUMAN		2	684	+	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)	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	1	1	hg19	c.452C>A	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380664	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.72;0.73;0.73;0.72;0.74	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.088954	0.46758	D	0.000261	T	0.21718	0.0523	N	0.11560	0.145	0.80722	D	1	B;P	0.38167	0.072;0.621	B;B	0.39971	0.059;0.315	T	0.08289	-1.0729	10	0.24483	T	0.36	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	151;151	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	222;151;151;151;151;151;151	ENSP00000407442:T222N;ENSP00000358572:T151N;ENSP00000409673:T151N;ENSP00000358567:T151N;ENSP00000358568:T151N;ENSP00000358571:T151N;ENSP00000358574:T151N	ENSP00000358567:T151N	T	+	2	0	0	HIPK1	114284980	114284980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.546000	0.85860	0.650000	0.86243	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_198268			51	49		224	222	1		1	1		0	0	89	0		1	9.998797e-01	0	14	0	48	0	51	224
SYT6	148281	broad.mit.edu	37	1	114682402	114682402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114682402G>A	ENST00000610222.1	-	2	493	c.347C>T	c.(346-348)gCg>gTg	p.A116V	SYT6_ENST00000607941.1_Missense_Mutation_p.A31V|SYT6_ENST00000393296.1_Missense_Mutation_p.A116V|SYT6_ENST00000369547.1_Missense_Mutation_p.A31V|SYT6_ENST00000609117.1_Missense_Mutation_p.A31V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	116					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)			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)		CAGCTTGTCCGCCATGTTGCC	0.622																																						ENST00000610222.1	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.933960	0.940000	0.990000																										0				37						c.(346-348)gCg>gTg		synaptotagmin VI							97.0	102.0	100.0					1																	114682402		2203	4300	6503	SO:0001583	missense	148281	1	121412	35				g.chr1:114682402G>A		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.347C>T	chr1.hg19:g.114682402G>A	ENSP00000476396:p.Ala116Val	1					SYT6_ENST00000369547.1_Missense_Mutation_p.A31V|SYT6_ENST00000609117.1_Missense_Mutation_p.A31V|SYT6_ENST00000393296.1_Missense_Mutation_p.A116V|SYT6_ENST00000607941.1_Missense_Mutation_p.A31V	p.A116V			0	1	1	1.802888	Q5T7P8	SYT6_HUMAN		2	493	-	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)	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	1	0	hg19	c.347C>T		1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852456	0.71719	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58940	0.32;0.3;0.32;0.3;1.44;0.85	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.054196	0.85682	D	0.000000	T	0.42966	0.1226	L	0.51422	1.61	0.80722	D	1	B	0.19935	0.04	B	0.14578	0.011	T	0.28459	-1.0043	10	0.36615	T	0.2	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	116	Q5T7P8	SYT6_HUMAN	V	31;116;31;116;31;31	ENSP00000358560:A31V;ENSP00000376974:A116V;ENSP00000358559:A31V;ENSP00000358558:A116V;ENSP00000412443:A31V;ENSP00000389266:A31V	ENSP00000358558:A116V	A	-	2	0	0	SYT6	114483925	114483925	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	8.005000	0.88553	2.697000	0.92050	0.655000	0.94253	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	0	0	0		25	2	2	2		2	2	155		155	152	1	2.060000	-19.991340	1	0.170000	NM_205848			79	74		729	715	1		1	0		2	0	155	0		1	0	0	0	0	1	0	79	729
TRIM33	51592	broad.mit.edu	37	1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	871					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)			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)		AATCCTTGCCGACCTGTGCAT	0.468			T	RET	papillary thyroid																																	ENST00000358465.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.994816	0.990000	1.000000				Dom	yes			Dom	yes		1	1p13	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""				E	E	RET		papillary thyroid		0				48						c.(2611-2613)tCg>tTg		tripartite motif containing 33							221.0	197.0	205.0					1																	114948188		2203	4300	6503	SO:0001583	missense	51592	2	121412	42				g.chr1:114948188G>A	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.2612C>T	chr1.hg19:g.114948188G>A	ENSP00000351250:p.Ser871Leu	1					TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L|TRIM33_ENST00000476908.1_5'UTR	p.S871L	NM_015906.3	NP_056990.3	0	1	1	1.802888	Q9UPN9	TRI33_HUMAN		15	2695	-	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)	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	1	1	hg19	c.2612C>T	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376244|3.376244	0.61735|0.61735	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77098	.|-0.93;-0.79;-1.07	5.29|5.29	5.29|5.29	0.74685|0.74685	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Zinc finger, FYVE/PHD-type (1);	.|0.429133	.|0.25801	.|N	.|0.028201	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.32530|0.32530	0.975|0.975	0.48288|0.48288	D|D	0.999627|0.999627	.|P;P;B;P;P	.|0.42692	.|0.7;0.748;0.021;0.787;0.682	.|B;B;B;B;B	.|0.32583	.|0.113;0.104;0.016;0.148;0.07	T|T	0.66571|0.66571	-0.5890|-0.5890	5|10	.|0.49607	.|T	.|0.09	-2.905|-2.905	19.2948|19.2948	0.94118|0.94118	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;503;66;871;871	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	W|L	632|871;871;503	.|ENSP00000351250:S871L;ENSP00000358556:S871L;ENSP00000412077:S503L	.|ENSP00000351250:S871L	R|S	-|-	1|2	2|0	2|0	TRIM33|TRIM33	114749711|114749711	114749711|114749711	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.903000|0.903000	0.53119|0.53119	8.995000|8.995000	0.93534|0.93534	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	CGG|TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	1	0	1		2	2	2	0		0	0	150		150	147	1	2.060000	-20.000000	1	0.170000	NM_015906			183	181		630	613	1		1	1		0	0	150	0		1	9.999917e-01	0	24	0	35	0	183	630
TRIM33	51592	broad.mit.edu	37	1	114968227	114968227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	513					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)			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)		GGAGTCGAAGCTGTGCTAAGT	0.458			T	RET	papillary thyroid																																	ENST00000358465.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.993251	0.990000	0.990000				Dom	yes			Dom	yes		1	1p13	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""				E	E	RET		papillary thyroid		0				48						c.(1537-1539)caG>caA		tripartite motif containing 33							343.0	299.0	314.0					1																	114968227		2203	4300	6503	SO:0001819	synonymous_variant	51592	0	0					g.chr1:114968227C>T	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.1539G>A	chr1.hg19:g.114968227C>T		1					TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	p.Q513Q	NM_015906.3	NP_056990.3	0	1	1	1.802888	Q9UPN9	TRI33_HUMAN		9	1622	-	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)	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	1	1	hg19	c.1539G>A	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856383	0.17106	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.23	2.34	0.29019	5.23	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-6.7607	10.5993	0.45358	0.0:0.7899:0.0:0.2101	.	.	.	.	N	250	.	.	S	-	2	0	0	TRIM33	114769750	114769750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.200000	0.42724	0.305000	0.22832	-0.157000	0.13467	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	1	0	1		2	2	2	0		0	0	206		206	205	1	2.060000	-20.000000	1	0.170000	NM_015906			170	169		718	698	0		1	1		0	0	206	0		1	9.999997e-01	0	47	0	42	0	170	718
NRAS	4893	broad.mit.edu	37	1	115252229	115252229	+	Silent	SNP	G	G	A	rs368813470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		ATGGAATCCCGTAACTCTTGG	0.448		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.929604	0.940000	0.990000		50		Dom	yes			Dom	yes		1	1p13.2	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog				"""L, E"""	L, E			melanoma, MM, AML, thyroid		0				3085						c.(409-411)taC>taT		neuroblastoma RAS viral (v-ras) oncogene homolog		G		1,4405	2.1+/-5.4	0,1,2202	229.0	177.0	194.0		411	-8.4	0.6	1		194	0,8600		0,0,4300	no	coding-synonymous	NRAS	NM_002524.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/190	115252229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4893	4	121412	35	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	g.chr1:115252229G>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.411C>T	chr1.hg19:g.115252229G>A		1	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Y137Y	NM_002524.4	NP_002515.1	0	1	1	1.802888	P01111	RASN_HUMAN		4	664	-	all_epithelial(7;5.11e-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)	Q14971|Q15104|Q15282	Silent	SNP	ENST00000369535.4	1	1	hg19	c.411C>T	CCDS877.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-14.213370	1	0.170000	NM_002524			31	31		214	207	1		1	1		0	0	59	0		1	9.999999e-01	0	12	0	181	0	31	214
CSDE1	7812	broad.mit.edu	37	1	115263337	115263337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000358528.4	-	17	2301	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	625	CSD 8.				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)			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)		CTTTCATATCGCCTGTAAAAC	0.428																																						ENST00000358528.4	1.000000	0.880000	1	9.400000e-01	0.970000	0.972124	0.970000	0.990000																										0				51						c.(1873-1875)ggC>ggT		cold shock domain containing E1, RNA-binding							109.0	90.0	97.0					1																	115263337		2203	4300	6503	SO:0001630	splice_region_variant	7812	0	0					g.chr1:115263337G>A		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.1874-1C>T	chr1.hg19:g.115263337G>A		1					CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G	p.G625G	NM_001007553.2	NP_001007554.1	0	1	1	1.802888	O75534	CSDE1_HUMAN		17	2301	-	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)	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	1	0	hg19	c.1875C>T	CCDS30812.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.312640	1	0.170000	NM_007158	Silent		51	50		221	218	0		1	1		0	0	51	0		1	1	0	276	0	1139	0	51	221
CSDE1	7812	broad.mit.edu	37	1	115269646	115269646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000358528.4	-	13	1848	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000261443.5_Silent_p.A443A|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000438362.2_Silent_p.A520A|CSDE1_ENST00000369530.1_Silent_p.A489A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	474	CSD 6.				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)			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)		CCACATCCTTGGCTTGAAAAG	0.388																																						ENST00000358528.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.979229	0.980000	0.990000																										0				51						c.(1420-1422)gcC>gcT		cold shock domain containing E1, RNA-binding							146.0	127.0	133.0					1																	115269646		2203	4300	6503	SO:0001819	synonymous_variant	7812	0	0					g.chr1:115269646G>A		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.1422C>T	chr1.hg19:g.115269646G>A		1					CSDE1_ENST00000438362.2_Silent_p.A520A|CSDE1_ENST00000261443.5_Silent_p.A443A|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000369530.1_Silent_p.A489A	p.A474A	NM_001007553.2	NP_001007554.1	0	1	1	1.802888	O75534	CSDE1_HUMAN		13	1848	-	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)	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	1	1	hg19	c.1422C>T	CCDS30812.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.243257	1	0.170000	NM_007158			63	59		248	238	1		1	1		0	0	74	0		1	1	0	243	0	856	0	63	248
CSDE1	7812	broad.mit.edu	37	1	115272969	115272969	+	Silent	SNP	G	G	A	rs147370534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000358528.4	-	12	1692	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000261443.5_Silent_p.S391S|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000369530.1_Silent_p.S437S	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	422					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)			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)		GATCTGAATGGGAATGAAATG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16459	0.0		0.001	False		,,,				2504	0.0					ENST00000358528.4	1.000000	0.930000	1	9.600000e-01	0.980000	0.984711	0.980000	0.990000																										0				51						c.(1264-1266)tcC>tcT		cold shock domain containing E1, RNA-binding							101.0	107.0	105.0					1																	115272969		2203	4300	6503	SO:0001819	synonymous_variant	7812	1	121412	29				g.chr1:115272969G>A		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.1266C>T	chr1.hg19:g.115272969G>A		1					CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000261443.5_Silent_p.S391S|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000369530.1_Silent_p.S437S	p.S422S	NM_001007553.2	NP_001007554.1	0	1	1	1.802888	O75534	CSDE1_HUMAN		12	1692	-	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)	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	1	1	hg19	c.1266C>T	CCDS30812.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-3.107948	1	0.170000	NM_007158			84	83		338	328	1		1	1		0	0	64	0		1	1	0	373	0	916	0	84	338
SDF4	51150	broad.mit.edu	37	1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	315	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652																																						ENST00000360001.6	1.000000	0.940000	1	9.700000e-01	0.980000	0.988738	0.980000	0.990000																										0				11						c.(943-945)gCg>gTg		stromal cell derived factor 4							146.0	147.0	146.0					1																	1153037		2203	4300	6503	SO:0001583	missense	51150	3	121370	37				g.chr1:1153037G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.944C>T	chr1.hg19:g.1153037G>A	ENSP00000353094:p.Ala315Val	1					SDF4_ENST00000263741.7_3'UTR	p.A315V			0	1	1	1.838767	Q9BRK5	CAB45_HUMAN		7	1206	-	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)	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	1	1	hg19	c.944C>T	CCDS30553.1	1	.	.	.	.	.	.	.	.	.	.	g	36	5.899314	0.97081	.	.	ENSG00000078808	ENST00000360001	T	0.09073	3.02	5.33	5.33	0.75918	5.33	5.33	0.75918	EF-hand-like domain (1);	0.050815	0.85682	D	0.000000	T	0.30386	0.0763	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.01858	-1.1259	10	0.87932	D	0	-28.0616	18.0268	0.89271	0.0:0.0:1.0:0.0	.	315	Q9BRK5	CAB45_HUMAN	V	315	ENSP00000353094:A315V	ENSP00000353094:A315V	A	-	2	0	0	SDF4	1142900	1142900	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.440000	0.97547	2.498000	0.84270	0.479000	0.44913	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_016176			113	111		479	473	1		1	1		0	0	93	0		1	1	0	275	0	440	0	113	479
SDF4	51150	broad.mit.edu	37	1	1154014	1154014	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000360001.6	-	6	999		c.e6-1		SDF4_ENST00000263741.7_Splice_Site			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677																																						ENST00000360001.6	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.949421	0.950000	0.990000																										0				11						c.e6-1		stromal cell derived factor 4							75.0	78.0	77.0					1																	1154014		2203	4300	6503	SO:0001630	splice_region_variant	51150	0	0					g.chr1:1154014C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.737-1G>A	chr1.hg19:g.1154014C>T		1					SDF4_ENST00000263741.7_Splice_Site				0	1	1	1.838767	Q9BRK5	CAB45_HUMAN		6	999	-	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)	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Splice_Site	SNP	ENST00000360001.6	1	1	hg19		CCDS30553.1	1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668782	0.29604	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000403997	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2798	0.82670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SDF4	1143877	1143877	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	6.972000	0.76110	2.058000	0.61347	0.305000	0.20034	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.677	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_016176	Intron		45	45		305	302	1		1	0		0	0	57	0		1	2.819609e-01	0	0	0	8	0	45	305
CSDE1	7812	broad.mit.edu	37	1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000358528.4	-	10	1373	c.947T>C	c.(946-948)gTt>gCt	p.V316A	CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	316	CSD 4; truncated.				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)			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)		ATTAAACCTAACATGGTCACC	0.418																																						ENST00000358528.4	0.560000	0.240000	4.800000e-01	3.100000e-01	0.380000	0.398056	0.380000	0.380000																										0				51						c.(946-948)gTt>gCt		cold shock domain containing E1, RNA-binding							196.0	191.0	193.0					1																	115275328		2203	4300	6503	SO:0001583	missense	7812	0	0					g.chr1:115275328A>G		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.947T>C	chr1.hg19:g.115275328A>G	ENSP00000351329:p.Val316Ala	1					CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A	p.V316A	NM_001007553.2	NP_001007554.1	0	1	1	1.802888	O75534	CSDE1_HUMAN		10	1373	-	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)	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	1	1	hg19	c.947T>C	CCDS30812.1	0	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977568	0.74360	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.114155	0.64402	D	0.000011	T	0.41743	0.1172	L	0.47190	1.495	0.58432	D	0.999999	B;B;P	0.35872	0.189;0.39;0.525	B;B;B	0.34722	0.024;0.092;0.188	T	0.52601	-0.8554	9	0.87932	D	0	-7.1035	16.2903	0.82747	1.0:0.0:0.0:0.0	.	331;316;362	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	285;362;316;285;186;331;316	.	ENSP00000261443:V285A	V	-	2	0	0	CSDE1	115076851	115076851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	0	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-3.797490	1	0.170000	NM_007158			21	21		562	557	0		1	1		0	0	115	0		9.999973e-01	1	0	63	0	1374	0	21	562
PTCHD2	57540	broad.mit.edu	37	1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	132					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)			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)		CAGTTTGGATCCTGGGGGCGG	0.597																																						ENST00000294484.6	1.000000	0.900000	1	9.400000e-01	0.980000	0.977149	0.980000	0.990000																										0				76						c.(394-396)tCc>tTc		patched domain containing 2							40.0	42.0	42.0					1																	11561444		2051	4176	6227	SO:0001583	missense	57540	1	120964	24				g.chr1:11561444C>T	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.395C>T	chr1.hg19:g.11561444C>T	ENSP00000294484:p.Ser132Phe	1					PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	p.S132F	NM_020780.1	NP_065831.1	0	1	1	1.838767	Q9P2K9	PTHD2_HUMAN		2	533	+	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)	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	1	1	hg19	c.395C>T	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979915	0.92982	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25579	1.79;1.79	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.116909	0.64402	D	0.000012	T	0.36853	0.0982	L	0.29908	0.895	0.53005	D	0.999964	D	0.62365	0.991	P	0.57502	0.822	T	0.09840	-1.0656	10	0.87932	D	0	-35.2713	18.751	0.91814	0.0:1.0:0.0:0.0	.	132	Q9P2K9	PTHD2_HUMAN	F	132	ENSP00000294484:S132F;ENSP00000374226:S132F	ENSP00000294484:S132F	S	+	2	0	0	PTCHD2	11484031	11484031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.623000	0.67757	2.666000	0.90696	0.561000	0.74099	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	XM_052561			51	51		159	159	1		1	0		0	0	54	0		1	0	0	0	0	1	0	51	159
PTCHD2	57540	broad.mit.edu	37	1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	164					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)			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)		CTCGGCAACCGCTCGCGGCAA	0.687																																						ENST00000294484.6	1.000000	0.810000	9.900000e-01	9.000000e-01	0.960000	0.950711	0.960000	0.990000																										0				76						c.(490-492)cGc>cAc		patched domain containing 2							13.0	16.0	15.0					1																	11561540		1911	4090	6001	SO:0001583	missense	57540	0	0					g.chr1:11561540G>A	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.491G>A	chr1.hg19:g.11561540G>A	ENSP00000294484:p.Arg164His	1					PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	p.R164H	NM_020780.1	NP_065831.1	0	1	1	1.838767	Q9P2K9	PTHD2_HUMAN		2	629	+	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)	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	1	1	hg19	c.491G>A	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820313	0.16678	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.52	1.32	0.21799	5.52	1.32	0.21799	.	0.823009	0.11554	N	0.552444	T	0.10852	0.0265	N	0.08118	0	0.23487	N	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.35871	-0.9771	10	0.19590	T	0.45	-18.9983	5.3673	0.16121	0.243:0.2562:0.5008:0.0	.	164	Q9P2K9	PTHD2_HUMAN	H	164	ENSP00000294484:R164H;ENSP00000374226:R164H	ENSP00000294484:R164H	R	+	2	0	0	PTCHD2	11484127	11484127	0.979000	0.34478	0.985000	0.45067	0.372000	0.29890	0.086000	0.14935	0.292000	0.22492	-0.266000	0.10368	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	0		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	XM_052561			28	27		118	117	1		1			0	0	29	0		1	0	0	0	0	0	0	28	118
PTCHD2	57540	broad.mit.edu	37	1	11561811	11561811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					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)			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)		GAGGCGCCTCGCGCTGGGACT	0.701																																						ENST00000294484.6	1.000000	0.500000	9.600000e-01	6.800000e-01	0.840000	0.825301	0.840000	0.990000																										0				76						c.(760-762)tcG>tcA		patched domain containing 2							8.0	9.0	8.0					1																	11561811		1929	4106	6035	SO:0001819	synonymous_variant	57540	0	0					g.chr1:11561811G>A	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.762G>A	chr1.hg19:g.11561811G>A		1					PTCHD2_ENST00000389575.3_Silent_p.S254S	p.S254S	NM_020780.1	NP_065831.1	0	1	1	1.838767	Q9P2K9	PTHD2_HUMAN		2	900	+	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)	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	0	1	hg19	c.762G>A	CCDS41247.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-16.431210	1	0.170000	XM_052561			9	9		68	66	1		1			0	0	11	0		9.945221e-01	0	0	0	0	0	0	9	68
TSPAN2	10100	broad.mit.edu	37	1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	118			R -> L (in dbSNP:rs9659602).		astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418																																						ENST00000369516.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.993780	0.990000	1.000000																										0				10						c.(352-354)Cga>Tga		tetraspanin 2							195.0	182.0	186.0					1																	115601596		2203	4300	6503	SO:0001587	stop_gained	10100	5	121412	41				g.chr1:115601596G>A	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.352C>T	chr1.hg19:g.115601596G>A	ENSP00000358529:p.Arg118*	1					TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*|TSPAN2_ENST00000491992.1_5'Flank	p.R118*	NM_005725.4	NP_005716.2	0	1	1	1.802888	O60636	TSN2_HUMAN		5	383	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	D6PTH4|Q5TET2|Q8WU05	Nonsense_Mutation	SNP	ENST00000369516.2	0	1	hg19	c.352C>T	CCDS881.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780335	0.49891	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.8	4.87	0.63330	5.8	4.87	0.63330	.	0.441004	0.26176	N	0.025888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.1783	0.37125	0.0:0.1415:0.5664:0.2921	.	.	.	.	X	118;93;112;118	.	ENSP00000358527:R118X	R	-	1	2	2	TSPAN2	115403119	115403119	0.952000	0.32445	0.749000	0.31150	0.161000	0.22273	2.305000	0.43664	1.424000	0.47217	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	1	0	1		21	4	2	1		1	1	110		110	109	1	2.060000	-3.895889	1	0.170000	NM_005725			159	157		546	539	1		1	0		1	0	110	0		1	9.998187e-01	0	3	0	59	0	159	546
NGF	4803	broad.mit.edu	37	1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	111					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587																																						ENST00000369512.2	1.000000	0.880000	1	9.400000e-01	0.970000	0.972911	0.970000	0.990000																										0				13						c.(331-333)Gcc>Acc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						52.0	46.0	48.0					1																	115829086		2203	4300	6503	SO:0001583	missense	4803	0	0					g.chr1:115829086C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.331G>A	chr1.hg19:g.115829086C>T	ENSP00000358525:p.Ala111Thr	1					RP4-663N10.1_ENST00000425449.1_RNA	p.A111T	NM_002506.2	NP_002497.2	0	1	1	1.802888	P01138	NGF_HUMAN		3	499	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	1	1	hg19	c.331G>A	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	C	5.594	0.294351	0.10567	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.27	-1.42	0.08913	5.27	-1.42	0.08913	.	1.018970	0.07813	N	0.958416	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16482	-1.0401	10	0.33141	T	0.24	-7.1349	4.6352	0.12521	0.4107:0.3844:0.0:0.2049	.	111	P01138	NGF_HUMAN	T	111	ENSP00000358525:A111T	ENSP00000358525:A111T	A	-	1	0	0	NGF	115630609	115630609	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.400000	0.20932	-0.171000	0.10797	0.467000	0.42956	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_002506			45	45		151	148	1		1	0		0	0	34	0		1	0	0	0	0	1	0	45	151
NGF	4803	broad.mit.edu	37	1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	20					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512																																						ENST00000369512.2	1.000000	0.830000	9.900000e-01	9.000000e-01	0.960000	0.953880	0.960000	0.990000																										0				13						c.(58-60)Cca>Tca		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						126.0	101.0	109.0					1																	115829359		2203	4300	6503	SO:0001583	missense	4803	0	0					g.chr1:115829359G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.58C>T	chr1.hg19:g.115829359G>A	ENSP00000358525:p.Pro20Ser	1					RP4-663N10.1_ENST00000425449.1_RNA	p.P20S	NM_002506.2	NP_002497.2	0	1	1	1.802888	P01138	NGF_HUMAN		3	226	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	1	1	hg19	c.58C>T	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121881	0.56613	.	.	ENSG00000134259	ENST00000369512	T	0.64085	-0.08	5.36	2.37	0.29283	5.36	2.37	0.29283	.	0.115420	0.64402	D	0.000017	T	0.39279	0.1072	L	0.56280	1.765	0.42726	D	0.993697	B	0.10296	0.003	B	0.11329	0.006	T	0.43393	-0.9394	10	0.59425	D	0.04	-2.5373	10.2581	0.43410	0.0725:0.2513:0.6762:0.0	.	20	P01138	NGF_HUMAN	S	20	ENSP00000358525:P20S	ENSP00000358525:P20S	P	-	1	0	0	NGF	115630882	115630882	1.000000	0.71417	0.882000	0.34594	0.722000	0.41435	3.015000	0.49599	0.614000	0.30107	0.467000	0.42956	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_002506			49	49		328	325	1		1	0		0	0	76	0		1	4.804365e-02	0	0	0	3	0	49	328
VANGL1	81839	broad.mit.edu	37	1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	449					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-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)		AGTGCGGGCCCCACCCTGCAA	0.542																																						ENST00000355485.2	1.000000	0.840000	1	9.100000e-01	0.960000	0.957587	0.960000	0.990000																										0				27						c.(1345-1347)cCc>cTc		VANGL planar cell polarity protein 1							88.0	76.0	80.0					1																	116233771		2203	4300	6503	SO:0001583	missense	81839	0	0					g.chr1:116233771C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1346C>T	chr1.hg19:g.116233771C>T	ENSP00000347672:p.Pro449Leu	1					VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L	p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	0	1	1	1.802888	Q8TAA9	VANG1_HUMAN		8	1617	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	1	1	hg19	c.1346C>T	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996543	0.93167	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94849	0.8012	10	0.54805	T	0.06	-16.6377	18.5856	0.91188	0.0:1.0:0.0:0.0	.	447;449	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	449;447;449;449	ENSP00000347672:P449L;ENSP00000358523:P447L;ENSP00000310800:P449L;ENSP00000358522:P449L	ENSP00000310800:P449L	P	+	2	0	0	VANGL1	116035294	116035294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.617000	0.88574	0.655000	0.94253	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.096687	1	0.170000				40	38		214	207	1		1	1		0	0	64	0		1	9.826811e-01	0	16	0	21	0	40	214
SLC22A15	55356	broad.mit.edu	37	1	116562216	116562216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116562216C>T	ENST00000369503.4	+	3	444	c.314C>T	c.(313-315)gCc>gTc	p.A105V	RP11-159M11.2_ENST00000453128.1_RNA|SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	105					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			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)		TTTTTAATTGCCAACAGATCC	0.378																																						ENST00000369503.4	0.990000	0.400000	9.200000e-01	5.700000e-01	0.760000	0.753169	0.760000	0.850000																										0				17						c.(313-315)gCc>gTc		solute carrier family 22, member 15							145.0	122.0	129.0					1																	116562216		1828	4089	5917	SO:0001583	missense	55356	0	0					g.chr1:116562216C>T	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.314C>T	chr1.hg19:g.116562216C>T	ENSP00000358515:p.Ala105Val	1					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V|RP11-159M11.2_ENST00000453128.1_RNA	p.A105V	NM_018420.2	NP_060890.2	0	1	1	1.802888	Q8IZD6	S22AF_HUMAN		3	444	+	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)	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	0	1	hg19	c.314C>T	CCDS44198.1	0	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576599	0.45902	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76709	-1.04;-0.46	5.26	5.26	0.73747	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.229842	0.46442	D	0.000283	T	0.48995	0.1531	N	0.08118	0	0.31911	N	0.61465	B;B	0.30741	0.293;0.153	B;B	0.34652	0.187;0.086	T	0.58679	-0.7594	10	0.87932	D	0	.	12.5588	0.56269	0.0:0.7822:0.2178:0.0	.	105;105	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	105	ENSP00000358515:A105V;ENSP00000358514:A105V	ENSP00000358514:A105V	A	+	2	0	0	SLC22A15	116363739	116363739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.662000	0.54510	2.731000	0.93534	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-5.897826	1	0.170000	NM_018420			8	8		85	82	0		1	1		0	0	18	0		9.890372e-01	3.154479e-01	0	3	0	9	0	8	85
SLC22A15	55356	broad.mit.edu	37	1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	316					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			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)		AATTGCAGGTTTGTGTGCAGC	0.443																																						ENST00000369503.4	1.000000	0.920000	1	9.600000e-01	0.980000	0.984204	0.980000	0.990000																										0				17						c.(946-948)tTt>tGt		solute carrier family 22, member 15							183.0	172.0	175.0					1																	116577810		1936	4154	6090	SO:0001583	missense	55356	0	0					g.chr1:116577810T>G	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.947T>G	chr1.hg19:g.116577810T>G	ENSP00000358515:p.Phe316Cys	1					SLC22A15_ENST00000481127.1_3'UTR	p.F316C	NM_018420.2	NP_060890.2	0	1	1	1.802888	Q8IZD6	S22AF_HUMAN		7	1077	+	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)	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	1	1	hg19	c.947T>G	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729028	0.69074	.	.	ENSG00000163393	ENST00000369503	T	0.63580	-0.05	5.76	4.56	0.56223	5.76	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054834	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81179	2.53	0.80722	D	1	P	0.35894	0.526	B	0.40982	0.345	T	0.67722	-0.5597	10	0.72032	D	0.01	.	11.8102	0.52179	0.1313:0.0:0.0:0.8687	.	316	Q8IZD6	S22AF_HUMAN	C	316	ENSP00000358515:F316C	ENSP00000358515:F316C	F	+	2	0	0	SLC22A15	116379333	116379333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.529000	0.60588	2.198000	0.70561	0.528000	0.53228	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_018420			80	78		312	307	1		1	0		0	0	73	0		1	7.762704e-01	0	1	0	12	0	80	312
ATP1A1	476	broad.mit.edu	37	1	116930090	116930090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116930090G>T	ENST00000295598.5	+	4	616	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E122*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	122					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)			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)	AGCTGCTACAGAAGAGGAACC	0.423																																						ENST00000295598.5	0.550000	0.190000	4.500000e-01	2.600000e-01	0.340000	0.360512	0.340000	0.340000																										0				47						c.(364-366)Gaa>Taa		ATPase, Na+/K+ transporting, alpha 1 polypeptide	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)						91.0	87.0	88.0					1																	116930090		2203	4300	6503	SO:0001587	stop_gained	476	0	0					g.chr1:116930090G>T	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.364G>T	chr1.hg19:g.116930090G>T	ENSP00000295598:p.Glu122*	1					ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E122*|ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*	p.E122*	NM_000701.7	NP_000692.2	0	1	1	1.802888	P05023	AT1A1_HUMAN		4	616	+	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)	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Nonsense_Mutation	SNP	ENST00000295598.5	0	1	hg19	c.364G>T	CCDS887.1	0	.	.	.	.	.	.	.	.	.	.	G	41	8.618993	0.98888	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	.	.	.	X	91;122;122;91;121;91	.	ENSP00000295598:E122X	E	+	1	0	0	ATP1A1	116731613	116731613	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	9.657000	0.98554	2.773000	0.95371	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	0	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-12.498500	1	0.170000	NM_001160233			13	13		393	385	0		1	1		0	0	71	0		9.994873e-01	1	0	9	0	2468	0	13	393
ATP1A1	476	broad.mit.edu	37	1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000295598.5	+	20	3049	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	933					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)			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)	GCAGTGGGCCGACTTGGTCAT	0.507																																						ENST00000295598.5	0.970000	0.420000	8.800000e-01	5.600000e-01	0.710000	0.720441	0.710000	0.720000																										0				47						c.(2797-2799)Gac>Aac		ATPase, Na+/K+ transporting, alpha 1 polypeptide	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)						90.0	82.0	85.0					1																	116943830		2203	4300	6503	SO:0001583	missense	476	0	0					g.chr1:116943830G>A	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.2797G>A	chr1.hg19:g.116943830G>A	ENSP00000295598:p.Asp933Asn	1					ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N	p.D933N	NM_000701.7	NP_000692.2	0	1	1	1.802888	P05023	AT1A1_HUMAN		20	3049	+	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)	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	1	1	hg19	c.2797G>A	CCDS887.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.709734	0.96821	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.1	5.1	0.69264	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.59967	1.855	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.846;0.905	D	0.95486	0.8565	10	0.56958	D	0.05	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	933;933	F5H3A1;P05023	.;AT1A1_HUMAN	N	933;102;933;902;100	ENSP00000295598:D933N;ENSP00000445306:D933N;ENSP00000358508:D902N;ENSP00000396236:D100N	ENSP00000295598:D933N	D	+	1	0	0	ATP1A1	116745353	116745353	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-18.114610	1	0.170000	NM_001160233			14	14		186	183	1		1	1		0	0	56	0		9.997636e-01	1	0	507	0	3106	0	14	186
CD58	965	broad.mit.edu	37	1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000369489.5	-	3	520	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000457047.2_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	152					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)			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)		ATAAGTCCTCGATGGCTGTTG	0.373																																						ENST00000369489.5	1.000000	0.870000	1	9.300000e-01	0.970000	0.969982	0.970000	0.990000																										0				9						c.(454-456)Cga>Tga		CD58 molecule							106.0	99.0	102.0					1																	117078761		2203	4300	6503	SO:0001587	stop_gained	965	0	0					g.chr1:117078761G>A	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.454C>T	chr1.hg19:g.117078761G>A	ENSP00000358501:p.Arg152*	1					CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*|CD58_ENST00000457047.2_Nonsense_Mutation_p.R152*	p.R152*	NM_001779.2	NP_001770.1	0	1	1	1.802888	P19256	LFA3_HUMAN		3	520	-	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)	A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	ENST00000369489.5	0	1	hg19	c.454C>T	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235409	0.39498	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.36	-6.71	0.01760	3.36	-6.71	0.01760	.	13.333200	0.00829	N	0.001654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	14.9149	7.5945	0.28039	0.0:0.3752:0.2014:0.4234	.	.	.	.	X	152	.	ENSP00000358499:R152X	R	-	1	2	2	CD58	116880284	116880284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.392000	0.00241	-1.425000	0.01997	-0.182000	0.12963	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_001779			44	44		170	169	1		1	1		0	0	62	0		1	1	0	4	0	103	0	44	170
IGSF3	3321	broad.mit.edu	37	1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S|IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1128					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		GAAGAAGACGAAGTAGAAGAG	0.498																																						ENST00000369486.3	1.000000	0.880000	1	9.400000e-01	0.970000	0.972407	0.970000	0.990000																										0				62						c.(3382-3384)tTc>tCc		immunoglobulin superfamily, member 3							143.0	143.0	143.0					1																	117120136		2203	4300	6503	SO:0001583	missense	3321	0	0					g.chr1:117120136A>G	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.3383T>C	chr1.hg19:g.117120136A>G	ENSP00000358498:p.Phe1128Ser	1					IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	p.F1128S	NM_001007237.1	NP_001007238.1	0	1	1	1.802888	O75054	IGSF3_HUMAN		11	4148	-	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)	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	1	1	hg19	c.3383T>C	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258429	0.80246	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04603	3.6;3.59;3.59	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.47716	1.5	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.32798	-0.9893	10	0.40728	T	0.16	-37.6565	12.5239	0.56075	1.0:0.0:0.0:0.0	.	1128;1148	O75054;A6NJZ6	IGSF3_HUMAN;.	S	1128;1148;1148	ENSP00000358498:F1128S;ENSP00000358495:F1148S;ENSP00000321184:F1148S	ENSP00000321184:F1148S	F	-	2	0	0	IGSF3	116921659	116921659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.403000	0.90208	2.056000	0.61249	0.533000	0.62120	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_001542			51	50		218	209	1		1	1		0	0	66	0		1	9.992331e-01	0	21	0	28	0	51	218
FBXO44	93611	broad.mit.edu	37	1	11718605	11718605	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000251547.5	+	4	490	c.408C>A	c.(406-408)tcC>tcA	p.S136S	FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.P127T|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	136	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662																																						ENST00000251547.5	1.000000	0.870000	1	9.300000e-01	0.970000	0.967831	0.970000	0.990000																										0				8						c.(406-408)tcC>tcA		F-box protein 44							30.0	32.0	32.0					1																	11718605		2203	4300	6503	SO:0001819	synonymous_variant	93611	0	0					g.chr1:11718605C>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.408C>A	chr1.hg19:g.11718605C>A		1					FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.P127T|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S	p.S136S	NM_033182.5	NP_149438.2	0	1	1	1.838767	Q9H4M3	FBX44_HUMAN		4	490	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-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)	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	1	1	hg19	c.408C>A	CCDS132.1	1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231723	0.58777	.	.	ENSG00000132879	ENST00000376768	T	0.34072	1.38	5.37	4.35	0.52113	5.37	4.35	0.52113	.	1.052530	0.07394	N	0.889643	T	0.28665	0.0710	.	.	.	0.80722	D	1	B	0.26363	0.147	B	0.21360	0.034	T	0.20706	-1.0267	9	0.49607	T	0.09	.	7.6947	0.28587	0.0:0.8095:0.0:0.1905	.	127	B7Z1P2	.	T	127	ENSP00000365959:P127T	ENSP00000365959:P127T	P	+	1	0	0	FBXO44	11641192	11641192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	2.520000	0.84964	0.549000	0.68633	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.547420	1	0.170000	NM_183412			42	41		168	166	0		1	1		0	0	34	0		1	9.979447e-01	0	7	0	34	0	42	168
IGSF3	3321	broad.mit.edu	37	1	117159032	117159032	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	ENST00000369486.3	-	3	856	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H|IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	31	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		TCCGTGCGGTACAAGGGTCCT	0.527																																						ENST00000369486.3	1.000000	0.640000	9.700000e-01	7.700000e-01	0.890000	0.878193	0.890000	0.990000																										0				62						c.(91-93)Tac>Cac		immunoglobulin superfamily, member 3							17.0	18.0	18.0					1																	117159032		1921	3846	5767	SO:0001583	missense	3321	0	0					g.chr1:117159032A>G	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.91T>C	chr1.hg19:g.117159032A>G	ENSP00000358498:p.Tyr31His	1					IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	p.Y31H	NM_001007237.1	NP_001007238.1	0	1	1	1.802888	O75054	IGSF3_HUMAN		3	856	-	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)	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	0	1	hg19	c.91T>C	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537755	0.65085	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	4.65	4.65	0.58169	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.424946	0.24710	N	0.036229	T	0.73187	0.3555	M	0.80847	2.515	0.35189	D	0.773203	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79176	-0.1911	10	0.87932	D	0	-26.1169	12.0593	0.53555	1.0:0.0:0.0:0.0	.	31;31	O75054;A6NJZ6	IGSF3_HUMAN;.	H	31	ENSP00000358498:Y31H;ENSP00000358495:Y31H;ENSP00000321184:Y31H	ENSP00000321184:Y31H	Y	-	1	0	0	IGSF3	116960555	116960555	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	4.215000	0.58534	1.932000	0.55993	0.454000	0.30748	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	0	0	1		2	2	2	0		0	0	47		47	71	1	2.060000	-20.000000	1	0.170000	NM_001542			22	11		190	123	0		1	1		0	0	47	0		9.999138e-01	5.809748e-01	0	2	0	16	0	22	190
CD2	914	broad.mit.edu	37	1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	3					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983324	0.980000	0.990000																										0				18						c.(7-9)tTt>tGt		CD2 molecule	Alefacept(DB00092)						122.0	114.0	117.0					1																	117297122		2203	4300	6503	SO:0001583	missense	914	0	0					g.chr1:117297122T>G	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.8T>G	chr1.hg19:g.117297122T>G	ENSP00000358490:p.Phe3Cys	1					CD2_ENST00000369477.1_Missense_Mutation_p.F3C	p.F3C	NM_001767.3	NP_001758.2	0	1	1	1.802888	P06729	CD2_HUMAN		1	116	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	1	1	hg19	c.8T>G	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	T	4.663	0.123267	0.08931	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.84589	-1.87	3.87	2.71	0.32032	3.87	2.71	0.32032	.	0.941043	0.08871	N	0.881570	T	0.57315	0.2045	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.79;0.947;0.947	B;B;B	0.44044	0.275;0.436;0.439	T	0.55392	-0.8148	10	0.87932	D	0	-4.8105	6.512	0.22226	0.215:0.0:0.0:0.785	.	3;3;3	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	C	3	ENSP00000358490:F3C	ENSP00000358489:F3C	F	+	2	0	0	CD2	117098645	117098645	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.691000	0.37721	0.624000	0.30286	0.460000	0.39030	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_001767			80	79		335	333	1		1	0		0	0	94	0		1	1	0	0	0	158	0	80	335
CD2	914	broad.mit.edu	37	1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T	rs369310866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	28	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.941889	0.950000	0.990000																										0				18						c.(82-84)aCg>aTg		CD2 molecule	Alefacept(DB00092)	C	MET/THR	0,4406		0,0,2203	107.0	107.0	107.0		83	-5.3	0.0	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	CD2	NM_001767.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	28/352	117297274	2,13004	2203	4300	6503	SO:0001583	missense	914	11	121410	43				g.chr1:117297274C>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.83C>T	chr1.hg19:g.117297274C>T	ENSP00000358490:p.Thr28Met	1					CD2_ENST00000369477.1_Missense_Mutation_p.T28M	p.T28M	NM_001767.3	NP_001758.2	0	1	1	1.802888	P06729	CD2_HUMAN		2	191	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	1	1	hg19	c.83C>T	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051838	0.07362	0.0	2.33E-4	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82803	-1.65	2.63	-5.27	0.02763	2.63	-5.27	0.02763	.	6.445950	0.00357	N	0.000022	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.25441	0.0;0.126;0.0	B;B;B	0.19148	0.0;0.024;0.0	T	0.35773	-0.9775	10	0.46703	T	0.11	2.157	1.0468	0.01571	0.2041:0.1478:0.3584:0.2897	.	28;28;28	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	M	28	ENSP00000358490:T28M	ENSP00000358489:T28M	T	+	2	0	0	CD2	117098797	117098797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-2.418000	0.00566	-0.941000	0.02677	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.318794	1	0.170000	NM_001767			57	57		463	458	1		1	0		0	0	110	0		1	9.998564e-01	0	0	0	106	0	57	463
CD101	9398	broad.mit.edu	37	1	117556224	117556224	+	Silent	SNP	T	T	C	rs201248748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	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	346	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)			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						AGAGAGCAAGTCAAGGAGAGC	0.498																																						ENST00000256652.4	1.000000	0.660000	9.700000e-01	7.800000e-01	0.890000	0.883614	0.890000	0.990000																										0				49						c.(1036-1038)agT>agC		CD101 molecule							104.0	103.0	103.0					1																	117556224		2203	4300	6503	SO:0001819	synonymous_variant	9398	0	0					g.chr1:117556224T>C	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.1038T>C	chr1.hg19:g.117556224T>C		1					CD101_ENST00000369470.1_Silent_p.S346S	p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	0	1	1	1.802888	Q93033	IGSF2_HUMAN		4	1096	+			Q15856	Silent	SNP	ENST00000256652.4	1	1	hg19	c.1038T>C	CCDS891.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-11.206780	1	0.170000	NM_004258			29	27		267	264	1		1	0		0	0	68	0		1	1.903240e-01	0	0	0	8	0	29	267
CD101	9398	broad.mit.edu	37	1	117568492	117568492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	930					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)			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						CATCCGATGAGTCACAGCGGA	0.532																																						ENST00000256652.4	1.000000	0.830000	1	9.100000e-01	0.960000	0.956535	0.960000	0.990000																										0				49						c.(2788-2790)gaG>gaA		CD101 molecule							73.0	67.0	69.0					1																	117568492		2203	4300	6503	SO:0001819	synonymous_variant	9398	0	0					g.chr1:117568492G>A	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.2790G>A	chr1.hg19:g.117568492G>A		1					RP11-27K13.3_ENST00000445523.1_RNA|RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E	p.E930E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	0	1	1	1.802888	Q93033	IGSF2_HUMAN		8	2848	+			Q15856	Silent	SNP	ENST00000256652.4	1	1	hg19	c.2790G>A	CCDS891.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_004258			41	40		230	225	1		1	0		0	0	60	0		1	4.672524e-01	0	0	0	10	0	41	230
TTF2	8458	broad.mit.edu	37	1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	446					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)			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)		TGATCAAACAAATCCAGGAGC	0.473																																						ENST00000369466.4	1.000000	0.870000	1	9.300000e-01	0.970000	0.969242	0.970000	0.990000																										0				50						c.(1336-1338)caA>caC		transcription termination factor, RNA polymerase II							102.0	96.0	98.0					1																	117618864		2203	4300	6503	SO:0001583	missense	8458	0	0					g.chr1:117618864A>C	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.1338A>C	chr1.hg19:g.117618864A>C	ENSP00000358478:p.Gln446His	1						p.Q446H	NM_003594.3	NP_003585.3	0	1	1	1.802888	Q9UNY4	TTF2_HUMAN		6	1382	+	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)	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	1	1	hg19	c.1338A>C	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031989	0.35893	.	.	ENSG00000116830	ENST00000369466	D	0.88509	-2.39	5.41	1.8	0.24995	5.41	1.8	0.24995	.	0.000000	0.36101	N	0.002792	D	0.90580	0.7047	M	0.77103	2.36	0.48135	D	0.999592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-15.3366	7.9556	0.30040	0.6752:0.0:0.3248:0.0	.	446;446	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	H	446	ENSP00000358478:Q446H	ENSP00000358478:Q446H	Q	+	3	2	2	TTF2	117420387	117420387	1.000000	0.71417	0.964000	0.40570	0.023000	0.10783	1.772000	0.38552	0.104000	0.17725	-1.144000	0.01866	CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				45	45		187	184	1		1	1		0	0	51	0		1	9.573517e-01	0	10	0	14	0	45	187
TRIM45	80263	broad.mit.edu	37	1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	480					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488																																						ENST00000256649.4	0.990000	0.570000	9.300000e-01	6.800000e-01	0.810000	0.808036	0.810000	0.830000																										0				23						c.(1438-1440)tgG>tgT		tripartite motif containing 45							249.0	208.0	222.0					1																	117658224		2203	4300	6503	SO:0001583	missense	80263	0	0					g.chr1:117658224C>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1440G>T	chr1.hg19:g.117658224C>A	ENSP00000256649:p.Trp480Cys	1					TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	p.W480C	NM_025188.3	NP_079464.2	0	1	1	1.802888	Q9H8W5	TRI45_HUMAN		4	1966	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	1	1	hg19	c.1440G>T	CCDS893.1	0	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655905	0.14580	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83755	-1.76;-1.76;-1.76	4.91	2.95	0.34219	4.91	2.95	0.34219	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.406040	0.28595	N	0.014782	T	0.52125	0.1715	N	0.10837	0.055	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.51865	-0.8651	10	0.35671	T	0.21	-7.111	12.0408	0.53452	0.0:0.5466:0.4534:0.0	.	462;480	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	C	480;462;423	ENSP00000256649:W480C;ENSP00000358476:W462C;ENSP00000358473:W423C	ENSP00000256649:W480C	W	-	3	0	0	TRIM45	117459747	117459747	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.562000	0.45914	1.292000	0.44672	0.563000	0.77884	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.744762	1	0.170000	NM_025188			29	29		338	331	0		1	1		0	0	94	0		1	1.931922e-01	0	2	0	8	0	29	338
VTCN1	79679	broad.mit.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517																																						ENST00000369458.3	0.990000	0.630000	9.500000e-01	7.400000e-01	0.850000	0.849171	0.850000	0.890000																										1	Substitution - Missense(1)	p.F191L(1)	large_intestine(1)	12						c.(571-573)ttC>ttA		V-set domain containing T cell activation inhibitor 1							108.0	102.0	104.0					1																	117695864		2203	4300	6503	SO:0001583	missense	79679	0	0					g.chr1:117695864G>T	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.573C>A	chr1.hg19:g.117695864G>T	ENSP00000358470:p.Phe191Leu	1					VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR	p.F191L	NM_024626.3	NP_078902.2	0	1	1	1.802888				4	651	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Missense_Mutation	SNP	ENST00000369458.3	1	1	hg19	c.573C>A	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	2	VTCN1	117497387	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-11.253070	1	0.170000	NM_024626			37	37		401	396	0		1	0		0	0	78	0		1	3.431866e-01	0	0	0	14	0	37	401
MAN1A2	10905	broad.mit.edu	37	1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	179					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)			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)		TGACATAAGAGAGAAAAGGGA	0.358																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3	1.000000	0.890000	1	9.400000e-01	0.970000	0.974094	0.970000	0.990000																										0				27						c.(535-537)Gag>Aag		mannosidase, alpha, class 1A, member 2							63.0	66.0	65.0					1																	117945040		2203	4296	6499	SO:0001583	missense	10905	0	0					g.chr1:117945040G>A	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.535G>A	chr1.hg19:g.117945040G>A	ENSP00000348959:p.Glu179Lys	1					MAN1A2_ENST00000482811.1_Intron	p.E179K	NM_006699.3	NP_006690.1	0	1	1	1.802888	O60476	MA1A2_HUMAN		2	1270	+	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)	Q9H510	Missense_Mutation	SNP	ENST00000356554.3	1	1	hg19	c.535G>A	CCDS895.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146089	0.37923	.	.	ENSG00000198162	ENST00000356554	D	0.83673	-1.75	5.76	-3.91	0.04168	5.76	-3.91	0.04168	.	0.499176	0.22515	N	0.059058	T	0.59851	0.2224	L	0.49126	1.545	0.47621	D	0.999476	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.33141	T	0.24	-0.5461	10.915	0.47131	0.169:0.1246:0.7064:0.0	.	179	O60476	MA1A2_HUMAN	K	179	ENSP00000348959:E179K	ENSP00000348959:E179K	E	+	1	0	0	MAN1A2	117746563	117746563	1.000000	0.71417	0.055000	0.19348	0.909000	0.53808	2.466000	0.45084	-0.759000	0.04684	-0.136000	0.14681	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-20.000000	1	0.170000	NM_006699			55	54		240	233	1		1	1		0	0	66	0		1	9.999974e-01	0	16	0	70	0	55	240
FAM46C	54855	broad.mit.edu	37	1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			G|||	2	0.000399361	0.0	0.0	5008	,	,		22136	0.0		0.002	False		,,,				2504	0.0					ENST00000369448.3	1.000000	0.880000	1	9.400000e-01	0.970000	0.972449	0.970000	0.990000				Rec	yes			Rec	yes		1	1p12	1p12	54855	Mis, F, O	"""family with sequence similarity 46, member C"""				L	L			MM		0				15						c.(889-891)Gct>Act		family with sequence similarity 46, member C		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	115.0	110.0	112.0		889	4.8	0.8	1	dbSNP_134	112	18,8582	14.6+/-50.1	0,18,4282	yes	missense	FAM46C	NM_017709.3	58	0,22,6481	AA,AG,GG		0.2093,0.0908,0.1692	benign	297/392	118166379	22,12984	2203	4300	6503	SO:0001583	missense	54855	182	121412	54				g.chr1:118166379G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.889G>A	chr1.hg19:g.118166379G>A	ENSP00000358458:p.Ala297Thr	1	Multiple Myeloma(3;1.13e-06)					p.A297T	NM_017709.3	NP_060179.2	0	1	1	1.802888	Q5VWP2	FA46C_HUMAN		2	1136	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	1	0	hg19	c.889G>A	CCDS896.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	6.588	0.476815	0.12521	9.08E-4	0.002093	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.7	4.78	0.61160	5.7	4.78	0.61160	Domain of unknown function DUF1693 (1);	0.501193	0.19639	N	0.109500	T	0.05914	0.0154	L	0.42245	1.32	0.23445	N	0.997669	B	0.23591	0.088	B	0.20577	0.03	T	0.28808	-1.0032	10	0.20519	T	0.43	-12.3519	7.4156	0.27042	0.0774:0.0:0.6044:0.3182	.	297	Q5VWP2	FA46C_HUMAN	T	297	ENSP00000358458:A297T	ENSP00000358458:A297T	A	+	1	0	0	FAM46C	117967902	117967902	0.961000	0.32948	0.800000	0.32199	0.958000	0.62258	2.228000	0.42981	1.381000	0.46364	0.655000	0.94253	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.779624	1	0.170000	NM_017709			49	49		197	192	1		1	0		0	0	47	0		1	1	0	0	0	113	0	49	197
GDAP2	54834	broad.mit.edu	37	1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	261					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433																																						ENST00000369443.5	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.914886	0.920000	0.990000																										0				16						c.(781-783)cCt>cAt		ganglioside induced differentiation associated protein 2							156.0	156.0	156.0					1																	118441693		2203	4300	6503	SO:0001583	missense	54834	0	0					g.chr1:118441693G>T	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.782C>A	chr1.hg19:g.118441693G>T	ENSP00000358451:p.Pro261His	1					GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	p.P261H	NM_017686.3	NP_060156.1	0	1	1	1.802888	Q9NXN4	GDAP2_HUMAN		7	1031	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	1	1	hg19	c.782C>A	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566958	0.65651	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.3;1.03	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69709	-0.5072	10	0.87932	D	0	-14.751	19.6366	0.95736	0.0:0.0:1.0:0.0	.	261;261	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	261	ENSP00000358451:P261H;ENSP00000358450:P261H	ENSP00000358450:P261H	P	-	2	0	0	GDAP2	118243216	118243216	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.046000	0.93817	2.643000	0.89663	0.585000	0.79938	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-3.221883	1	0.170000	NM_017686			62	62		593	585	0		1	1		0	0	139	0		1	9.712284e-01	0	7	0	49	0	62	593
GDAP2	54834	broad.mit.edu	37	1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A|GDAP2_ENST00000464026.1_5'Flank	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	214	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGGTAAGTACCCTGTGTC	0.423																																						ENST00000369443.5	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.936618	0.940000	0.990000																										0				16						c.(640-642)Act>Gct		ganglioside induced differentiation associated protein 2							112.0	100.0	104.0					1																	118441835		2203	4300	6503	SO:0001583	missense	54834	0	0					g.chr1:118441835T>C	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.640A>G	chr1.hg19:g.118441835T>C	ENSP00000358451:p.Thr214Ala	1					GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	p.T214A	NM_017686.3	NP_060156.1	0	1	1	1.802888	Q9NXN4	GDAP2_HUMAN		7	889	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	1	1	hg19	c.640A>G	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117044	0.37339	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.20332	2.08;2.08	5.44	3.12	0.35913	5.44	3.12	0.35913	Appr-1-p processing (1);	0.253796	0.46442	D	0.000283	T	0.02230	0.0069	N	0.02916	-0.46	0.36223	D	0.852104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.12103	T	0.63	-5.7334	8.8728	0.35327	0.0:0.2142:0.0:0.7858	.	214;214	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	A	214	ENSP00000358451:T214A;ENSP00000358450:T214A	ENSP00000358450:T214A	T	-	1	0	0	GDAP2	118243358	118243358	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.999000	0.40806	0.375000	0.24679	-0.361000	0.07541	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	0	0	1		17	3	2	1		1	1	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_017686			52	51		426	421	1		1	1		1	0	98	0		9.999972e-01	8.342665e-01	0	8	0	33	0	52	426
GDAP2	54834	broad.mit.edu	37	1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A	rs200761394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	108	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398																																						ENST00000369443.5	1.000000	0.910000	1	9.500000e-01	0.980000	0.980148	0.980000	0.990000																										0				16						c.(322-324)Cga>Tga		ganglioside induced differentiation associated protein 2							108.0	100.0	103.0					1																	118455300		2203	4300	6503	SO:0001587	stop_gained	54834	1	121412	32				g.chr1:118455300G>A	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.322C>T	chr1.hg19:g.118455300G>A	ENSP00000358451:p.Arg108*	1					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	p.R108*	NM_017686.3	NP_060156.1	0	1	1	1.802888	Q9NXN4	GDAP2_HUMAN		4	571	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	0	1	hg19	c.322C>T	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.844187	0.97016	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.9	4.97	0.65823	5.9	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2636	14.3031	0.66368	0.0:0.0:0.6772:0.3228	.	.	.	.	X	108	.	ENSP00000358450:R108X	R	-	1	2	2	GDAP2	118256823	118256823	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.369000	0.66138	1.470000	0.48102	0.585000	0.79938	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-2.743311	1	0.170000	NM_017686			73	73		333	327	0		1	1		0	0	81	0		1	9.742255e-01	0	6	0	23	0	73	333
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	43	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358																																						ENST00000369443.5	1.000000	0.660000	9.700000e-01	7.800000e-01	0.890000	0.879003	0.890000	0.990000																										0				16						c.(127-129)Cga>Tga		ganglioside induced differentiation associated protein 2							99.0	99.0	99.0					1																	118462854		2203	4300	6503	SO:0001587	stop_gained	54834	1	121412	31				g.chr1:118462854G>A	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.127C>T	chr1.hg19:g.118462854G>A	ENSP00000358451:p.Arg43*	1					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	p.R43*	NM_017686.3	NP_060156.1	0	1	1	1.802888	Q9NXN4	GDAP2_HUMAN		2	376	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	0	1	hg19	c.127C>T	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	2	GDAP2	118264377	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	0	0	1		2	3	2	1		1	0	67		67	66	1	2.060000	-3.221884	1	0.170000	NM_017686			32	31		308	304	0		1	0		1	0	67	0		1	5.552002e-01	0	0	0	30	0	32	308
WDR3	10885	broad.mit.edu	37	1	118492397	118492397	+	Silent	SNP	A	A	G	rs111307478	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	516						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313																																						ENST00000349139.5	1.000000	0.890000	1	9.400000e-01	0.970000	0.975853	0.970000	0.990000																										0				49						c.(1546-1548)gcA>gcG		WD repeat domain 3							88.0	89.0	89.0					1																	118492397		2203	4300	6503	SO:0001819	synonymous_variant	10885	1	121412	37				g.chr1:118492397A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1548A>G	chr1.hg19:g.118492397A>G		1						p.A516A	NM_006784.2	NP_006775.1	0	1	1	1.802888	Q9UNX4	WDR3_HUMAN		14	1595	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		Silent	SNP	ENST00000349139.5	1	1	hg19	c.1548A>G	CCDS898.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_006784			56	55		228	227	1		1	1		0	0	38	0		1	9.999974e-01	0	33	0	48	0	56	228
WDR3	10885	broad.mit.edu	37	1	118495213	118495213	+	Silent	SNP	G	G	A	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	693						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413																																						ENST00000349139.5	1.000000	0.950000	1	9.700000e-01	0.980000	0.990356	0.980000	0.990000																										0				49						c.(2077-2079)tcG>tcA		WD repeat domain 3		G		1,4405	2.1+/-5.4	0,1,2202	103.0	103.0	103.0		2079	-11.1	0.4	1	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WDR3	NM_006784.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		693/944	118495213	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10885	6	121412	44				g.chr1:118495213G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2079G>A	chr1.hg19:g.118495213G>A		1						p.S693S	NM_006784.2	NP_006775.1	0	1	1	1.802888	Q9UNX4	WDR3_HUMAN		19	2126	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		Silent	SNP	ENST00000349139.5	1	1	hg19	c.2079G>A	CCDS898.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_006784			115	115		411	405	1		1	1		0	0	105	0		1	1	0	57	0	92	0	115	411
MTHFR	4524	broad.mit.edu	37	1	11860309	11860309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I|MTHFR_ENST00000376590.3_Silent_p.I182I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	182					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)			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)	ACTCACTTCGGATGTGCTTCA	0.567																																						ENST00000376592.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.991372	0.990000	0.990000																										0				33						c.(544-546)atC>atT		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)						369.0	278.0	309.0					1																	11860309		2203	4300	6503	SO:0001819	synonymous_variant	4524	0	0					g.chr1:11860309G>A	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.546C>T	chr1.hg19:g.11860309G>A		1					MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I|MTHFR_ENST00000376590.3_Silent_p.I182I	p.I182I			0	1	1	1.838767	P42898	MTHR_HUMAN		3	674	-	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)	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	1	1	hg19	c.546C>T	CCDS137.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000	NM_005957			140	134		591	580	1		1	1		0	0	169	0		1	9.896522e-01	0	16	0	16	0	140	591
MTHFR	4524	broad.mit.edu	37	1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S|MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	8					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)			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)	GAGGCTGCTGTTTCCTCTGGC	0.632																																						ENST00000376592.1	1.000000	0.520000	9.600000e-01	6.900000e-01	0.850000	0.834727	0.850000	0.990000																										0				33						c.(22-24)aAc>aGc		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)						68.0	51.0	57.0					1																	11863151		2203	4300	6503	SO:0001583	missense	4524	0	0					g.chr1:11863151T>C	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.23A>G	chr1.hg19:g.11863151T>C	ENSP00000365777:p.Asn8Ser	1					MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S|MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S	p.N8S			0	1	1	1.838767	P42898	MTHR_HUMAN		1	151	-	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)	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	1	1	hg19	c.23A>G	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	T	2.368	-0.344945	0.05208	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	T;T;T;T;T	0.81163	-1.45;-1.46;-1.45;-1.46;-1.28	4.65	-5.71	0.02413	4.65	-5.71	0.02413	.	0.791526	0.11932	N	0.515610	T	0.40546	0.1121	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44267	-0.9339	10	0.87932	D	0	.	4.1016	0.10015	0.0988:0.4522:0.2167:0.2323	.	8;49	P42898;Q5SNW6	MTHR_HUMAN;.	S	8;49;8;49;8;8;31;8;8	ENSP00000365777:N8S;ENSP00000365767:N49S;ENSP00000365775:N8S;ENSP00000365770:N49S;ENSP00000405082:N8S	ENSP00000365669:N8S	N	-	2	0	0	MTHFR	11785738	11785738	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.301000	0.08232	-1.019000	0.03358	-1.295000	0.01343	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-16.015950	1	0.170000	NM_005957			9	9		63	61	1		1	1		0	0	25	0		9.945511e-01	9.425897e-01	0	9	0	29	0	9	63
WDR3	10885	broad.mit.edu	37	1	118501532	118501532	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383																																						ENST00000349139.5	0.990000	0.540000	9.300000e-01	6.700000e-01	0.800000	0.801501	0.800000	0.830000																										0				49						c.e26-1		WD repeat domain 3							84.0	81.0	82.0					1																	118501532		2203	4300	6503	SO:0001630	splice_region_variant	10885	0	0					g.chr1:118501532G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2583-1G>T	chr1.hg19:g.118501532G>T		1					SPAG17_ENST00000336338.5_Intron		NM_006784.2	NP_006775.1	0	1	1	1.802888	Q9UNX4	WDR3_HUMAN		26	2629	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		Splice_Site	SNP	ENST00000349139.5	1	1	hg19		CCDS898.1	0	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474166	0.63737	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6756	0.95930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	WDR3	118303055	118303055	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.330000	0.96422	2.664000	0.90586	0.543000	0.68304	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.966611	1	0.170000	NM_006784	Intron		23	23		265	260	0		1	0		0	0	50	0		9.999994e-01	0	0	0	0	1	0	23	265
UBE2J2	118424	broad.mit.edu	37	1	1191433	1191433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1191433C>T	ENST00000349431.6	-	6	706	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000347370.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	163					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACCTCCACGACTTCAGGAAAT	0.418																																						ENST00000349431.6	0.310000	0.090000	2.500000e-01	1.300000e-01	0.180000	0.195089	0.180000	0.180000																										0				13						c.(487-489)Gtc>Atc		ubiquitin-conjugating enzyme E2, J2							117.0	125.0	122.0					1																	1191433		2203	4300	6503	SO:0001583	missense	118424	0	0					g.chr1:1191433C>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.487G>A	chr1.hg19:g.1191433C>T	ENSP00000305826:p.Val163Ile	1					UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000347370.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I	p.V163I	NM_058167.2	NP_477515.2	0	1	1	1.838767	Q8N2K1	UB2J2_HUMAN		6	706	-	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)	A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	0	1	hg19	c.487G>A	CCDS14.1	0	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018605	0.07959	.	.	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930;ENST00000435198	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.58	5.58	0.84498	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme/RWD-like (2);	0.056483	0.64402	D	0.000001	T	0.29256	0.0728	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.12268	-1.0554	10	0.08837	T	0.75	-2.9587	18.5607	0.91098	0.0:1.0:0.0:0.0	.	111;179;163;196	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	111;163;128;111;111;163;179;163	ENSP00000344857:V111I;ENSP00000305826:V163I;ENSP00000340197:V128I;ENSP00000342541:V111I;ENSP00000383718:V111I;ENSP00000353653:V163I;ENSP00000383719:V179I;ENSP00000393301:V163I	ENSP00000340197:V128I	V	-	1	0	0	UBE2J2	1181296	1181296	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.091000	0.57700	2.638000	0.89438	0.655000	0.94253	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	0	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-7.800436	1	0.170000	NM_058167			10	9		585	571	0		1	1		0	0	94	0		9.964961e-01	8.347063e-01	0	4	0	190	0	10	585
CLCN6	1185	broad.mit.edu	37	1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)			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)		CTGCGCACCACGGTCCACCAT	0.582																																						ENST00000346436.6	0.900000	0.220000	7.300000e-01	3.500000e-01	0.520000	0.542113	0.520000	0.490000																										0				36						c.(1882-1884)aCg>aTg		chloride channel, voltage-sensitive 6							146.0	106.0	119.0					1																	11896113		2203	4300	6503	SO:0001583	missense	1185	1	121412	24				g.chr1:11896113C>T	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.1883C>T	chr1.hg19:g.11896113C>T	ENSP00000234488:p.Thr628Met	1					CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	p.T628M	NM_001286.3	NP_001277	0	1	1	1.838767	P51797	CLCN6_HUMAN		18	1935	+	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)	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	1	1	hg19	c.1883C>T	CCDS138.1	0	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872035	0.91587	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	5.71	0.89125	5.71	5.71	0.89125	Cystathionine beta-synthase, core (3);	0.046638	0.85682	D	0.000000	D	0.91626	0.7354	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92515	0.6020	10	0.87932	D	0	-21.6503	18.8314	0.92141	0.0:1.0:0.0:0.0	.	606;628	F8W9R3;P51797	.;CLCN6_HUMAN	M	628;606;628	ENSP00000234488:T628M;ENSP00000365670:T606M;ENSP00000365679:T628M	ENSP00000234488:T628M	T	+	2	0	0	CLCN6	11818700	11818700	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	7.487000	0.81328	2.700000	0.92200	0.462000	0.41574	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-4.316199	1	0.170000	NM_001286			6	6		117	113	1		1	1		0	0	39	0		9.625221e-01	3.826452e-01	0	6	0	18	0	6	117
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	C	T	rs531440933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000376496.3_Silent_p.S766S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					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)			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)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16793	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6	1.000000	0.600000	9.700000e-01	7.400000e-01	0.870000	0.858611	0.870000	0.990000																										0				36						c.(2296-2298)agC>agT		chloride channel, voltage-sensitive 6							47.0	47.0	47.0					1																	11898394		2202	4300	6502	SO:0001819	synonymous_variant	1185	1	121408	29				g.chr1:11898394C>T	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.2298C>T	chr1.hg19:g.11898394C>T		1		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376496.3_Silent_p.S766S	p.S766S	NM_001286.3	NP_001277	0	1	1	1.838767	P51797	CLCN6_HUMAN		21	2350	+	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)	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	1	1	hg19	c.2298C>T	CCDS138.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001286			19	19		172	168	1		1	1		0	0	37	0		9.999915e-01	6.878884e-01	0	2	0	21	0	19	172
CLCN6	1185	broad.mit.edu	37	1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	837	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)			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)		CCACCTGCCCGTGGTGAACGC	0.622											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000346436.6	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.936994	0.940000	0.990000																										0				36						c.(2509-2511)Gtg>Atg		chloride channel, voltage-sensitive 6							105.0	93.0	97.0					1																	11898697		2203	4300	6503	SO:0001583	missense	1185	0	0					g.chr1:11898697G>A	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.2509G>A	chr1.hg19:g.11898697G>A	ENSP00000234488:p.Val837Met	1		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	p.V837M	NM_001286.3	NP_001277	0	1	1	1.838767	P51797	CLCN6_HUMAN		22	2561	+	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)	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	1	1	hg19	c.2509G>A	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.049858	0.93740	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.98531	-4.98;-4.98;-4.98	5.4	5.4	0.78164	5.4	5.4	0.78164	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97391	0.9989	10	0.72032	D	0.01	-31.6049	18.1816	0.89780	0.0:0.0:1.0:0.0	.	815;837	F8W9R3;P51797	.;CLCN6_HUMAN	M	837;815;837	ENSP00000234488:V837M;ENSP00000365670:V815M;ENSP00000365679:V837M	ENSP00000234488:V837M	V	+	1	0	0	CLCN6	11821284	11821284	1.000000	0.71417	0.953000	0.39169	0.894000	0.52154	9.476000	0.97823	2.536000	0.85505	0.561000	0.74099	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-3.221884	1	0.170000	NM_001286			50	49		403	400	1		1	0		0	0	91	0		1	9.219638e-01	0	1	0	36	0	50	403
SPAG17	200162	broad.mit.edu	37	1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		CTTCTTGGGTGCCATGCAAAG	0.552																																						ENST00000336338.5	1.000000	0.950000	1	9.700000e-01	0.990000	0.992160	0.990000	0.990000																										0				123						c.(4-6)gCa>gTa		sperm associated antigen 17							147.0	134.0	139.0					1																	118727776		2203	4300	6503	SO:0001583	missense	200162	1	121412	32				g.chr1:118727776G>A		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.5C>T	chr1.hg19:g.118727776G>A	ENSP00000337804:p.Ala2Val	1						p.A2V	NM_206996.2	NP_996879.1	0	1	1	1.802888	Q6Q759	SPG17_HUMAN		1	70	-	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)	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	1	1	hg19	c.5C>T	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626553	0.66901	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.398250	0.24698	N	0.036340	T	0.21841	0.0526	N	0.22421	0.69	0.33507	D	0.590619	D	0.89917	1.0	D	0.87578	0.998	T	0.02477	-1.1153	10	0.59425	D	0.04	.	13.7149	0.62691	0.0:0.0:1.0:0.0	.	2	Q6Q759	SPG17_HUMAN	V	2	ENSP00000337804:A2V	ENSP00000337804:A2V	A	-	2	0	0	SPAG17	118529299	118529299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.482000	0.45224	2.699000	0.92147	0.555000	0.69702	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_206996			135	133		478	469	1		1			0	0	133	0		1	0	0	0	0	0	0	135	478
TBX15	6913	broad.mit.edu	37	1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T	rs370477009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15	466					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)			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)		AGCTGGCCACCGTAGGCTTCC	0.567																																						ENST00000369429.3	1.000000	0.660000	9.700000e-01	7.800000e-01	0.890000	0.885790	0.890000	0.990000																										0				37						c.(1396-1398)Ggt>Agt		T-box 15		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		1078	5.3	1.0	1		59	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	360/497	119427768	1,13005	2203	4300	6503	SO:0001583	missense	6913	1	121410	30				g.chr1:119427768C>T	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.1396G>A	chr1.hg19:g.119427768C>T	ENSP00000358437:p.Gly466Ser	1					TBX15_ENST00000207157.3_Missense_Mutation_p.G360S	p.G466S			0	1	1	1.802888	Q96SF7	TBX15_HUMAN		8	1405	-	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)	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	1	1	hg19	c.1396G>A		1	.	.	.	.	.	.	.	.	.	.	C	6.700	0.497869	0.12762	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.86497	-2.13;-2.03;-0.92	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.169902	0.52532	D	0.000061	T	0.33933	0.0880	N	0.00841	-1.15	0.38949	D	0.958302	P;B	0.36412	0.552;0.027	B;B	0.22753	0.041;0.003	T	0.63883	-0.6536	10	0.02654	T	1	.	6.3764	0.21509	0.0:0.7909:0.0:0.2091	.	263;466	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	263;360;466;194	ENSP00000207157:G360S;ENSP00000358437:G466S;ENSP00000398625:G194S	ENSP00000207157:G360S	G	-	1	0	0	TBX15	119229291	119229291	0.337000	0.24766	0.967000	0.41034	0.748000	0.42578	0.911000	0.28584	2.768000	0.95171	0.561000	0.74099	GGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.744770	1	0.170000	NM_152380			26	26		229	228	0		1	1		0	0	66	0		9.999999e-01	2.035652e-01	0	2	0	6	0	26	229
KIAA2013	90231	broad.mit.edu	37	1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	632						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502																																						ENST00000376572.3	1.000000	0.740000	9.800000e-01	8.300000e-01	0.910000	0.911607	0.910000	0.990000																										0				7						c.(1894-1896)Ccc>Acc		KIAA2013							177.0	156.0	163.0					1																	11980383		2203	4300	6503	SO:0001583	missense	90231	0	0					g.chr1:11980383G>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1894C>A	chr1.hg19:g.11980383G>T	ENSP00000365756:p.Pro632Thr	1						p.P632T	NM_138346.2	NP_612355.1	0	1	1	1.838767	Q8IYS2	K2013_HUMAN		3	2079	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	1	1	hg19	c.1894C>A	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879388	0.33162	.	.	ENSG00000116685	ENST00000376572	.	.	.	5.64	4.72	0.59763	5.64	4.72	0.59763	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.32798	-0.9893	8	0.45353	T	0.12	.	14.0044	0.64453	0.0:0.1512:0.8488:0.0	.	632	Q8IYS2	K2013_HUMAN	T	632	.	ENSP00000365756:P632T	P	-	1	0	0	KIAA2013	11902970	11902970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.176000	0.58269	1.363000	0.46019	0.655000	0.94253	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-16.907910	1	0.170000	NM_138346			57	56		544	528	1		1	1		0	0	125	0		1	1	0	102	0	528	0	57	544
TBX15	6913	broad.mit.edu	37	1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15	125					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)			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)		TCATGGAACCGCTTCCAGAGG	0.507																																						ENST00000369429.3	1.000000	0.710000	9.800000e-01	8.200000e-01	0.920000	0.910320	0.920000	0.990000																										0				37						c.(373-375)Cgg>Tgg		T-box 15							98.0	87.0	91.0					1																	119474288		2203	4300	6503	SO:0001583	missense	6913	11	121412	41				g.chr1:119474288G>A	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.373C>T	chr1.hg19:g.119474288G>A	ENSP00000358437:p.Arg125Trp	1					TBX15_ENST00000207157.3_Missense_Mutation_p.R19W	p.R125W			0	1	1	1.802888	Q96SF7	TBX15_HUMAN		2	382	-	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)	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	1	1	hg19	c.373C>T		1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521076	0.64747	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.88586	-2.4;-2.4	5.97	2.19	0.27852	5.97	2.19	0.27852	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.049918	0.85682	D	0.000000	D	0.93706	0.7989	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94414	0.7634	10	0.87932	D	0	.	13.4602	0.61223	0.0:0.0:0.3887:0.6113	.	125	Q96SF7	TBX15_HUMAN	W	19;125	ENSP00000207157:R19W;ENSP00000358437:R125W	ENSP00000207157:R19W	R	-	1	2	2	TBX15	119275811	119275811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.349000	0.33998	0.492000	0.27815	-0.485000	0.04761	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-11.520810	1	0.170000	NM_152380			23	23		161	157	1		1	0		0	0	42	0		9.999995e-01	1.725030e-02	0	0	0	2	0	23	161
HAO2	51179	broad.mit.edu	37	1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000325945.3	+	5	642	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HAO2_ENST00000361035.4_Missense_Mutation_p.A203V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	190	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428																																						ENST00000325945.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983895	0.980000	0.990000																										0				30						c.(568-570)gCa>gTa		hydroxyacid oxidase 2 (long chain)							104.0	102.0	102.0					1																	119929252		2203	4300	6503	SO:0001583	missense	51179	0	0					g.chr1:119929252C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.569C>T	chr1.hg19:g.119929252C>T	ENSP00000316339:p.Ala190Val	1					HAO2_ENST00000361035.4_Missense_Mutation_p.A203V	p.A190V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	0	1	1	1.802888	Q9NYQ3	HAOX2_HUMAN		5	642	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	1	1	hg19	c.569C>T	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031455	0.35797	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.29397	1.57;1.57;1.57	5.13	3.15	0.36227	5.13	3.15	0.36227	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.938027	0.08845	N	0.885294	T	0.06962	0.0177	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40175	-0.9577	9	.	.	.	2.527	6.806	0.23779	0.0:0.6969:0.1417:0.1614	.	190	Q9NYQ3	HAOX2_HUMAN	V	165;203;190	ENSP00000393955:A165V;ENSP00000354314:A203V;ENSP00000316339:A190V	.	A	+	2	0	0	HAO2	119730775	119730775	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.505000	0.22642	0.664000	0.31047	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_001005783			76	75		280	278	1		1			0	0	70	0		1	0	0	0	0	0	0	76	280
HSD3B1	3283	broad.mit.edu	37	1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000369413.3	+	4	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	218					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527																																						ENST00000369413.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.990077	0.980000	0.990000																										0				32						c.(652-654)ttC>ttA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	Trilostane(DB01108)						88.0	89.0	89.0					1																	120056800		2203	4300	6503	SO:0001583	missense	3283	0	0					g.chr1:120056800C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.654C>A	chr1.hg19:g.120056800C>A	ENSP00000358421:p.Phe218Leu	1					HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L	p.F218L			0	1	1	1.802888	P14060	3BHS1_HUMAN		4	799	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	1	1	hg19	c.654C>A	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090709	0.07053	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.26	0.122	0.14702	3.26	0.122	0.14702	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.380111	0.29205	N	0.012833	T	0.70868	0.3273	M	0.75264	2.295	0.09310	N	1	B;P	0.41673	0.257;0.759	B;B	0.40702	0.216;0.338	T	0.63611	-0.6598	10	0.18710	T	0.47	-16.7946	4.638	0.12534	0.0:0.5732:0.1895:0.2373	.	220;218	Q5TDG2;P14060	.;3BHS1_HUMAN	L	218;220;218	ENSP00000358421:F218L;ENSP00000235547:F220L;ENSP00000432268:F218L	ENSP00000235547:F220L	F	+	3	2	2	HSD3B1	119858323	119858323	0.983000	0.35010	0.009000	0.14445	0.271000	0.26615	0.412000	0.21131	0.170000	0.19704	0.313000	0.20887	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_000862			110	110		378	372	1		1			0	0	91	0		1	0	0	0	0	0	0	110	378
HSD3B1	3283	broad.mit.edu	37	1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000369413.3	+	4	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	334					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517																																						ENST00000369413.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.943687	0.950000	0.990000																										0				32						c.(1000-1002)gCt>gTt		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	Trilostane(DB01108)						102.0	91.0	95.0					1																	120057147		2203	4300	6503	SO:0001583	missense	3283	0	0					g.chr1:120057147C>T	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.1001C>T	chr1.hg19:g.120057147C>T	ENSP00000358421:p.Ala334Val	1					HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V	p.A334V			0	1	1	1.802888	P14060	3BHS1_HUMAN		4	1146	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	1	1	hg19	c.1001C>T	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277993	0.59758	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.90955	-2.76;-2.76;-2.76	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.96505	0.9374	10	0.87932	D	0	-7.6718	12.346	0.55122	0.0:1.0:0.0:0.0	.	336;334	Q5TDG2;P14060	.;3BHS1_HUMAN	V	334;336;334	ENSP00000358421:A334V;ENSP00000235547:A336V;ENSP00000432268:A334V	ENSP00000235547:A336V	A	+	2	0	0	HSD3B1	119858670	119858670	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.157000	0.77461	1.799000	0.52666	0.313000	0.20887	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-18.626040	1	0.170000	NM_000862			49	48		370	364	1		1			0	0	111	0		1	0	0	0	0	0	0	49	370
PHGDH	26227	broad.mit.edu	37	1	120277277	120277277	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	ENST00000369409.4	+	6	667	c.531C>T	c.(529-531)atC>atT	p.I177I	PHGDH_ENST00000369407.3_Silent_p.I143I	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	177					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		ATGACCCCATCATTTCCCCAG	0.463																																						ENST00000369409.4	1.000000	0.840000	9.900000e-01	9.000000e-01	0.950000	0.951243	0.950000	0.990000																										0				18						c.(529-531)atC>atT		phosphoglycerate dehydrogenase							207.0	206.0	206.0					1																	120277277		2203	4300	6503	SO:0001819	synonymous_variant	26227	0	0					g.chr1:120277277C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.531C>T	chr1.hg19:g.120277277C>T		1					PHGDH_ENST00000369407.3_Silent_p.I143I	p.I177I	NM_006623.3	NP_006614.2	0	1	1	1.802888	O43175	SERA_HUMAN		6	667	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	1	1	hg19	c.531C>T	CCDS904.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	0	0	1		2	2	2	0		0	0	267		267	266	1	2.060000	-20.000000	1	0.170000	NM_006623			124	119		1139	1123	0		1	1		0	0	267	0		1	9.941473e-01	0	3	0	69	0	124	1139
PHGDH	26227	broad.mit.edu	37	1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A	rs201553627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369409.4	+	10	1253	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A339T|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	373			A -> T (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate). {ECO:0000269|PubMed:19235232}.		brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCTAAGCCCCGCAGTCATTGT	0.567																																						ENST00000369409.4	1.000000	0.760000	9.900000e-01	8.600000e-01	0.930000	0.929037	0.930000	0.990000																										0				18						c.(1117-1119)Gca>Aca		phosphoglycerate dehydrogenase							89.0	82.0	84.0					1																	120284428		2203	4300	6503	SO:0001583	missense	26227	0	0					g.chr1:120284428G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1117G>A	chr1.hg19:g.120284428G>A	ENSP00000358417:p.Ala373Thr	1					PHGDH_ENST00000369407.3_Missense_Mutation_p.A339T|PHGDH_ENST00000482968.1_3'UTR	p.A373T	NM_006623.3	NP_006614.2	0	1	1	1.802888	O43175	SERA_HUMAN		10	1253	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	1	1	hg19	c.1117G>A	CCDS904.1	1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843250	0.51057	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.39	4.48	0.54585	5.39	4.48	0.54585	.	0.105284	0.64402	D	0.000005	D	0.86703	0.5996	M	0.68952	2.095	0.30683	N	0.752119	D;D;D;D	0.64830	0.982;0.982;0.994;0.99	P;P;P;P	0.57548	0.678;0.678;0.823;0.678	D	0.84014	0.0350	10	0.54805	T	0.06	-8.5858	11.8603	0.52461	0.0855:0.0:0.9145:0.0	.	339;339;246;373	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	T	373;246;339	ENSP00000358417:A373T;ENSP00000358415:A339T	ENSP00000358415:A339T	A	+	1	0	0	PHGDH	120085951	120085951	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	5.700000	0.68318	1.278000	0.44430	-0.136000	0.14681	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-3.142705	1	0.170000	NM_006623			40	39		315	312	1		1	1		0	0	101	0		1	9.970133e-01	0	3	0	69	0	40	315
UBE2J2	118424	broad.mit.edu	37	1	1203315	1203315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1203315C>A	ENST00000349431.6	-	2	277	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	20					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAAGGTAGTCCTGCTTCAGC	0.572																																						ENST00000349431.6	0.250000	0.120000	2.200000e-01	1.400000e-01	0.170000	0.185610	0.170000	0.180000																										0				13						c.(58-60)Gac>Tac		ubiquitin-conjugating enzyme E2, J2							246.0	263.0	257.0					1																	1203315		2203	4300	6503	SO:0001583	missense	118424	0	0					g.chr1:1203315C>A	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.58G>T	chr1.hg19:g.1203315C>A	ENSP00000305826:p.Asp20Tyr	1					UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000339385.6_5'Flank	p.D20Y	NM_058167.2	NP_477515.2	0	1	1	1.838767	Q8N2K1	UB2J2_HUMAN		2	277	-	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)	A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	0	1	hg19	c.58G>T	CCDS14.1	0	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474331	0.84640	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.42	4.51	0.55191	5.42	4.51	0.55191	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042455	0.85682	D	0.000000	T	0.73102	0.3544	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.79512	-0.1773	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.9224:0.0:0.0776	.	20;20	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	Y	20	ENSP00000305826:D20Y;ENSP00000353653:D20Y;ENSP00000383719:D20Y;ENSP00000393301:D20Y;ENSP00000401898:D20Y;ENSP00000424342:D20Y	ENSP00000305826:D20Y	D	-	1	0	0	UBE2J2	1193178	1193178	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.022000	0.76431	1.428000	0.47296	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	0	0	1		2	2	2	0		0	0	317		317	316	1	2.060000	-2.920950	1	0.170000	NM_058167			31	32		1813	1782	0		1	1		0	0	317	0		1	6.258827e-01	0	2	0	122	0	31	1813
PLOD1	5351	broad.mit.edu	37	1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	rs149425237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	643	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18483	0.0		0.001	False		,,,				2504	0.0					ENST00000196061.4	1.000000	0.700000	9.800000e-01	8.100000e-01	0.900000	0.896868	0.900000	0.990000																										0				29						c.(1927-1929)Gtc>Atc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Succinic acid(DB00139)|Vitamin C(DB00126)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	146.0	116.0	126.0		1927	5.4	0.9	1	dbSNP_134	126	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PLOD1	NM_000302.3	29	0,13,6490	AA,AG,GG		0.1163,0.0681,0.1	probably-damaging	643/728	12032953	13,12993	2203	4300	6503	SO:0001583	missense	5351	77	121412	52				g.chr1:12032953G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1927G>A	chr1.hg19:g.12032953G>A	ENSP00000196061:p.Val643Ile	1					PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	p.V643I	NM_000302.3	NP_000293.2	0	1	1	1.838767	Q02809	PLOD1_HUMAN		18	1954	+	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)	B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	1	1	hg19	c.1927G>A	CCDS142.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.292109	0.95546	6.81E-4	0.001163	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	5.39	5.39	0.77823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.91341	0.5097	10	0.87932	D	0	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	690;643	B4DR87;Q02809	.;PLOD1_HUMAN	I	307;690;643	ENSP00000365548:V690I;ENSP00000196061:V643I	ENSP00000196061:V643I	V	+	1	0	0	PLOD1	11955540	11955540	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	9.854000	0.99522	2.552000	0.86080	0.549000	0.68633	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-10.468590	1	0.170000	NM_000302			38	38		354	343	0		1	1		0	0	111	0		1	1	0	159	0	811	0	38	354
HMGCS2	3158	broad.mit.edu	37	1	120295298	120295298	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000544913.2_Splice_Site|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)						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)			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)		AGGGGAGAGCCTGGGAAGCAA	0.478																																						ENST00000369406.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.980057	0.980000	0.990000																										0				28						c.e8-1		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							111.0	111.0	111.0					1																	120295298		2203	4300	6503	SO:0001630	splice_region_variant	3158	0	0					g.chr1:120295298C>T	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.1295-1G>A	chr1.hg19:g.120295298C>T		1					HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Splice_Site		NM_005518.3	NP_005509.1	0	1	1	1.802888	P54868	HMCS2_HUMAN		8	1344	-	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)	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Splice_Site	SNP	ENST00000369406.3	1	1	hg19		CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047514	0.55110	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.43	4.52	0.55395	5.43	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2131	0.59836	0.0:0.9223:0.0:0.0777	.	.	.	.	.	-1	.	.	.	-	.	.	.	HMGCS2	120096821	120096821	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.072000	0.64389	1.416000	0.47057	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	1	0	0		17	2	2	1		1	1	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_005518	Intron		75	72		355	343	1		1			1	0	81	0		1	0	0	0	0	0	0	75	355
ADAM30	11085	broad.mit.edu	37	1	120438762	120438762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	66					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)			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)		CTTTTAACTGCAGTAGGTAGG	0.542																																						ENST00000369400.1	1.000000	0.940000	1	9.600000e-01	0.980000	0.987755	0.980000	0.990000																										0				38						c.(196-198)ctG>ctA		ADAM metallopeptidase domain 30							86.0	79.0	81.0					1																	120438762		2203	4300	6503	SO:0001819	synonymous_variant	11085	0	0					g.chr1:120438762C>T	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.198G>A	chr1.hg19:g.120438762C>T		1						p.L66L	NM_021794.3	NP_068566.2	0	1	1	1.802888	Q9UKF2	ADA30_HUMAN		1	356	-	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)	A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	1	1	hg19	c.198G>A	CCDS907.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_021794			87	86		263	259	1		1			0	0	74	0		1	0	0	0	0	0	0	87	263
NOTCH2	4853	broad.mit.edu	37	1	120458178	120458178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2389					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)			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)		CATAACTGTGCTGTGAAGGGG	0.582			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.957001	0.960000	0.990000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(7165-7167)caG>caA		notch 2							118.0	105.0	109.0					1																	120458178		2203	4300	6503	SO:0001819	synonymous_variant	4853	0	0		Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120458178C>T	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.7167G>A	chr1.hg19:g.120458178C>T		1						p.Q2389Q	NM_024408.3	NP_077719.2	0	1	1	1.802888	Q04721	NOTC2_HUMAN		34	7386	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	1	1	hg19	c.7167G>A	CCDS908.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-19.998310	1	0.170000	NM_024408			57	55		397	389	1		1	1		0	0	94	0		1	1	0	16	0	245	0	57	397
NOTCH2	4853	broad.mit.edu	37	1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2111					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)			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)		GTAGGCATGGTACTCTTGGCA	0.537			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	0.530000	0.160000	4.300000e-01	2.300000e-01	0.310000	0.332540	0.310000	0.300000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(6331-6333)Acc>Gcc		notch 2							127.0	106.0	113.0					1																	120459014		2203	4300	6503	SO:0001583	missense	4853	1	121412	39	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120459014T>C	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.6331A>G	chr1.hg19:g.120459014T>C	ENSP00000256646:p.Thr2111Ala	1						p.T2111A	NM_024408.3	NP_077719.2	0	1	1	1.802888	Q04721	NOTC2_HUMAN		34	6550	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	1	1	hg19	c.6331A>G	CCDS908.1	0	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605717	0.03717	.	.	ENSG00000134250	ENST00000256646	D	0.81499	-1.5	5.71	-3.15	0.05233	5.71	-3.15	0.05233	.	0.615279	0.13441	N	0.387715	T	0.22399	0.0540	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.08179	T	0.78	.	13.4241	0.61015	0.0:0.4741:0.0:0.5259	.	2111	Q04721	NOTC2_HUMAN	A	2111	ENSP00000256646:T2111A	ENSP00000256646:T2111A	T	-	1	0	0	NOTCH2	120260537	120260537	0.000000	0.05858	0.134000	0.22075	0.927000	0.56198	-0.652000	0.05366	-0.590000	0.05866	0.459000	0.35465	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-10.649600	1	0.170000	NM_024408			10	10		334	332	0		1	1		0	0	64	0		9.968974e-01	9.547054e-01	0	2	0	176	0	10	334
NOTCH2	4853	broad.mit.edu	37	1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1599	Negative regulatory region (NRR).				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)			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)		TTTCTTCATAGCAGCTGACTT	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.906331	0.910000	0.990000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(4795-4797)gCt>gAt		notch 2							105.0	100.0	102.0					1																	120466323		2203	4300	6503	SO:0001583	missense	4853	0	0		Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120466323G>T	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.4796C>A	chr1.hg19:g.120466323G>T	ENSP00000256646:p.Ala1599Asp	1					NOTCH2_ENST00000493703.1_5'UTR	p.A1599D	NM_024408.3	NP_077719.2	0	1	1	1.802888	Q04721	NOTC2_HUMAN		26	5015	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	1	1	hg19	c.4796C>A	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807633	0.16467	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	6.08	5.17	0.71159	6.08	5.17	0.71159	.	0.201896	0.24298	U	0.039751	T	0.57858	0.2082	L	0.55481	1.735	0.38961	D	0.958543	P	0.43477	0.808	B	0.33690	0.168	T	0.61282	-0.7094	10	0.13853	T	0.58	.	12.4833	0.55856	0.0772:0.0:0.9228:0.0	.	1599	Q04721	NOTC2_HUMAN	D	1599	ENSP00000256646:A1599D	ENSP00000256646:A1599D	A	-	2	0	0	NOTCH2	120267846	120267846	0.980000	0.34600	0.774000	0.31636	0.969000	0.65631	3.271000	0.51608	1.597000	0.50072	0.655000	0.94253	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-13.762600	1	0.170000	NM_024408			41	41		373	370	1		1	0		0	0	79	0		1	9.998241e-01	0	1	0	118	0	41	373
NOTCH2	4853	broad.mit.edu	37	1	120483361	120483361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1000	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			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)		CAACACATGTGCCACCATTGA	0.443			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	1.000000	0.890000	1	9.400000e-01	0.970000	0.973385	0.970000	0.990000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(2998-3000)ggC>ggT		notch 2							122.0	95.0	104.0					1																	120483361		2203	4300	6503	SO:0001819	synonymous_variant	4853	0	0		Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120483361G>A	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.3000C>T	chr1.hg19:g.120483361G>A		1						p.G1000G	NM_024408.3	NP_077719.2	0	1	1	1.802888	Q04721	NOTC2_HUMAN		19	3219	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	1	1	hg19	c.3000C>T	CCDS908.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_024408			46	46		156	156	1		1	1		0	0	71	0		1	9.999999e-01	0	10	0	80	0	46	156
MFN2	9927	broad.mit.edu	37	1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.G87D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	87					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532																																						ENST00000235329.5	1.000000	0.960000	1	9.800000e-01	0.990000	0.993630	0.990000	1.000000																										0				20						c.(259-261)gGc>gAc		mitofusin 2							249.0	225.0	233.0					1																	12052696		2203	4300	6503	SO:0001583	missense	9927	0	0					g.chr1:12052696G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.260G>A	chr1.hg19:g.12052696G>A	ENSP00000235329:p.Gly87Asp	1					MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.G87D	p.G87D	NM_014874.3	NP_055689.1	0	1	1	1.838767	O95140	MFN2_HUMAN		4	582	+	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)	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	1	1	hg19	c.260G>A	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788652	0.90367	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.53;-3.53;-3.72	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D	0.54772	0.968	P	0.52267	0.694	D	0.94998	0.8140	10	0.29301	T	0.29	-28.61	18.3893	0.90477	0.0:0.0:1.0:0.0	.	87	O95140	MFN2_HUMAN	D	87	ENSP00000416338:G87D;ENSP00000235329:G87D;ENSP00000412023:G87D	ENSP00000235329:G87D	G	+	2	0	0	MFN2	11975283	11975283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.335000	0.72949	2.588000	0.87417	0.561000	0.74099	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	1	0	1		2	2	2	0		0	0	288		288	280	1	2.060000	-20.000000	1	0.170000	NM_014874			187	184		842	823	1		1	1		0	0	288	0		1	1	0	73	0	104	0	187	842
NOTCH2	4853	broad.mit.edu	37	1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	613	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			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)		GCAAGGGCTGCTGTAACATTC	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	1.000000	0.810000	9.900000e-01	8.800000e-01	0.940000	0.941340	0.940000	0.990000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(1837-1839)aGc>aTc		notch 2							247.0	210.0	223.0					1																	120506274		2203	4300	6503	SO:0001583	missense	4853	0	0		Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120506274C>A	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.1838G>T	chr1.hg19:g.120506274C>A	ENSP00000256646:p.Ser613Ile	1						p.S613I	NM_024408.3	NP_077719.2	0	1	1	1.802888	Q04721	NOTC2_HUMAN		11	2057	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	1	1	hg19	c.1838G>T	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779348	0.90195	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.09630	2.96	5.73	5.73	0.89815	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45126	U	0.000381	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.786;0.927;1.0	P;P;D	0.91635	0.595;0.739;0.999	T	0.40701	-0.9549	10	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	574;613;613	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	613;574	ENSP00000256646:S613I	ENSP00000256646:S613I	S	-	2	0	0	NOTCH2	120307797	120307797	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1		2	2	2	0		0	0	228		228	226	1	2.060000	-20.000000	1	0.170000	NM_024408			93	93		854	847	1		1	1		0	0	228	0		1	9.957181e-01	0	7	0	69	0	93	854
SCNN1D	6339	broad.mit.edu	37	1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	142					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCAGGCCGAGTCCGGTCCT	0.657																																						ENST00000338555.2	1.000000	0.850000	1	9.200000e-01	0.960000	0.962840	0.960000	0.990000																										0				7						c.(424-426)Agt>Ggt		sodium channel, non-voltage-gated 1, delta subunit	Amiloride(DB00594)|Triamterene(DB00384)						27.0	31.0	30.0					1																	1222152		2190	4290	6480	SO:0001583	missense	6339	0	0					g.chr1:1222152A>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.424A>G	chr1.hg19:g.1222152A>G	ENSP00000339504:p.Ser142Gly	1					SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G	p.S142G			0	1	1	1.838767	P51172	SCNND_HUMAN		5	1568	+	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)	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	1	1	hg19	c.424A>G		1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604653	0.28623	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.55	-3.62	0.04543	3.55	-3.62	0.04543	.	4.620690	0.00508	N	0.000170	T	0.62344	0.2420	M	0.67700	2.07	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.18263	0.021;0.001	T	0.49753	-0.8906	10	0.62326	D	0.03	.	4.761	0.13108	0.3933:0.2998:0.3069:0.0	.	142;306	P51172;A6NNF7	SCNND_HUMAN;.	G	173;306;142;208;142	ENSP00000368411:S306G;ENSP00000339504:S142G;ENSP00000321594:S208G;ENSP00000383717:S142G	ENSP00000321594:S208G	S	+	1	0	0	SCNN1D	1212015	1212015	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.332000	0.07904	-0.461000	0.06993	0.260000	0.18958	AGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_002978			39	38		173	171	1		1	1		0	0	40	0		1	1.625399e-01	0	2	0	2	0	39	173
SCNN1D	6339	broad.mit.edu	37	1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S|SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	413					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTACCTCCACCCTCTGCCGGC	0.667																																						ENST00000338555.2	1.000000	0.710000	9.800000e-01	8.200000e-01	0.910000	0.906128	0.910000	0.990000																										0				7						c.(1237-1239)Cct>Tct		sodium channel, non-voltage-gated 1, delta subunit	Amiloride(DB00594)|Triamterene(DB00384)						41.0	42.0	42.0					1																	1225717		2189	4291	6480	SO:0001583	missense	6339	3	120452	33				g.chr1:1225717C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1237C>T	chr1.hg19:g.1225717C>T	ENSP00000339504:p.Pro413Ser	1					SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S	p.P413S			0	1	1	1.838767	P51172	SCNND_HUMAN		10	2381	+	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)	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	1	1	hg19	c.1237C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.14|14.14	2.447329|2.447329	0.43429|0.43429	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.72942	.|-0.65;-0.7;-0.69;-0.7	3.13|3.13	2.09|2.09	0.27110|0.27110	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	0.484380|0.484380	0.16350|0.16350	U|U	0.218259|0.218259	D|D	0.83862|0.83862	0.5346|0.5346	M|M	0.87381|0.87381	2.88|2.88	0.28260|0.28260	N|N	0.92488|0.92488	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.976	T|T	0.75485|0.75485	-0.3301|-0.3301	6|10	.|0.87932	.|D	.|0	.|.	10.4602|10.4602	0.44575|0.44575	0.0:0.8003:0.1997:0.0|0.0:0.8003:0.1997:0.0	.|.	.|235;413;577	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	L|S	229|444;577;413;479;413	.|ENSP00000368411:P577S;ENSP00000339504:P413S;ENSP00000321594:P479S;ENSP00000383717:P413S	.|ENSP00000321594:P479S	P|P	+|+	2|1	0|0	0|0	SCNN1D|SCNN1D	1215580|1215580	1215580|1215580	0.990000|0.990000	0.36364|0.36364	0.093000|0.093000	0.20910|0.20910	0.012000|0.012000	0.07955|0.07955	2.636000|2.636000	0.46545|0.46545	1.302000|1.302000	0.44855|0.44855	0.306000|0.306000	0.20318|0.20318	CCC|CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.318795	1	0.170000	NM_002978			33	31		282	274	1		1	0		0	0	56	0		1	0	0	0	0	1	0	33	282
SCNN1D	6339	broad.mit.edu	37	1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	481					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCTGGCCACGCTAGGTGAA	0.672																																						ENST00000338555.2	1.000000	0.680000	9.800000e-01	8.200000e-01	0.920000	0.907763	0.920000	0.990000																										0				7						c.(1441-1443)aCg>aTg		sodium channel, non-voltage-gated 1, delta subunit	Amiloride(DB00594)|Triamterene(DB00384)						30.0	27.0	28.0					1																	1226291		2170	4279	6449	SO:0001583	missense	6339	4	120044	29				g.chr1:1226291C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1442C>T	chr1.hg19:g.1226291C>T	ENSP00000339504:p.Thr481Met	1					SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M	p.T481M			0	1	1	1.838767	P51172	SCNND_HUMAN		13	2586	+	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)	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	1	1	hg19	c.1442C>T		1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056654	0.01965	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69306	-0.39;-0.36;-0.37;-0.36	3.0	-1.54	0.08584	3.0	-1.54	0.08584	.	6.272650	0.00772	U	0.001219	T	0.32556	0.0833	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.28998	0.093;0.023;0.23	B;B;B	0.23018	0.043;0.031;0.005	T	0.26360	-1.0105	10	0.11182	T	0.66	.	2.3034	0.04168	0.2442:0.366:0.0:0.3898	.	303;481;645	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	M	512;645;481;547;481	ENSP00000368411:T645M;ENSP00000339504:T481M;ENSP00000321594:T547M;ENSP00000383717:T481M	ENSP00000321594:T547M	T	+	2	0	0	SCNN1D	1216154	1216154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.041000	0.12084	-0.035000	0.13691	0.306000	0.20318	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_002978			14	14		62	60	1		1	1		0	0	20	0		9.998207e-01	4.675518e-01	0	3	0	5	0	14	62
CPSF3L	54973	broad.mit.edu	37	1	1255909	1255909	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000435064.1	-	3	209	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|RP5-890O3.9_ENST00000444968.1_RNA	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607																																						ENST00000435064.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.991025	0.990000	0.990000																										0				13						c.(127-129)Cga>Tga		cleavage and polyadenylation specific factor 3-like							154.0	152.0	153.0					1																	1255909		2203	4300	6503	SO:0001630	splice_region_variant	54973	1	121408	33				g.chr1:1255909G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.127-1C>T	chr1.hg19:g.1255909G>A		1					CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA	p.R43*	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	0	1	1	1.838767	Q5TA45	INT11_HUMAN		3	209	-	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)	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Splice_Site	SNP	ENST00000435064.1	0	0	hg19	c.127C>T	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526940	0.44969	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.73	0.793	0.18632	4.73	0.793	0.18632	.	0.048715	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-53.2948	13.2437	0.60012	0.0:0.0:0.5864:0.4136	.	.	.	.	X	43;55;49;43;14;43;49;90;44;103	.	ENSP00000294579:R55X	R	-	1	2	2	CPSF3L	1245772	1245772	1.000000	0.71417	0.930000	0.37139	0.223000	0.24884	1.562000	0.36353	-0.130000	0.11599	-0.269000	0.10298	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_017871	Nonsense_Mutation		120	118		417	407	1		1	1		0	0	129	0		1	1	0	26	0	106	0	120	417
TAS1R3	83756	broad.mit.edu	37	1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T	rs200098251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	822					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|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)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCGGCAGCCAGGGCTCAACAC	0.642																																						ENST00000339381.5	1.000000	0.680000	9.800000e-01	8.100000e-01	0.920000	0.903054	0.920000	0.990000																										0				12						c.(2464-2466)Ggg>Tgg		taste receptor, type 1, member 3							22.0	24.0	24.0					1																	1269749		2195	4295	6490	SO:0001583	missense	83756	0	0					g.chr1:1269749G>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2464G>T	chr1.hg19:g.1269749G>T	ENSP00000344411:p.Gly822Trp	1						p.G822W	NM_152228.1	NP_689414	0	1	1	1.838767	Q7RTX0	TS1R3_HUMAN		6	2496	+	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;9.48e-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)|Lung SC(97;0.217)	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	1	1	hg19	c.2464G>T	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087578	0.20390	.	.	ENSG00000169962	ENST00000339381	D	0.88896	-2.44	4.59	-2.82	0.05787	4.59	-2.82	0.05787	GPCR, family 3, C-terminal (1);	1.629200	0.03282	N	0.186320	D	0.83041	0.5168	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.73975	-0.3813	10	0.72032	D	0.01	.	7.2296	0.26034	0.2315:0.2324:0.5361:0.0	.	822	Q7RTX0	TS1R3_HUMAN	W	822	ENSP00000344411:G822W	ENSP00000344411:G822W	G	+	1	0	0	TAS1R3	1259612	1259612	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	0.984000	0.29565	-0.314000	0.08716	0.456000	0.33151	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				16	16		91	91	1		1	0		0	0	20	0		9.999574e-01	3.008287e-01	0	0	0	7	0	16	91
DVL1	1855	broad.mit.edu	37	1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	623					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741																																						ENST00000378888.5	1.000000	0.780000	9.900000e-01	8.800000e-01	0.950000	0.939563	0.950000	0.990000																										0				13						c.(1867-1869)caG>caT		dishevelled segment polarity protein 1							9.0	10.0	10.0					1																	1271741		1872	3800	5672	SO:0001583	missense	1855	0	0					g.chr1:1271741C>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1869G>T	chr1.hg19:g.1271741C>A	ENSP00000368166:p.Gln623His	1					DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H	p.Q623H			0	1	1	1.838767	O14640	DVL1_HUMAN		15	2153	-	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)	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	1	1	hg19	c.1869G>T		1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627896	0.28978	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.5	4.7	4.7	0.59300	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47190	1.495	0.43114	D	0.994829	D;D;D	0.67145	0.995;0.996;0.994	D;D;D	0.81914	0.989;0.995;0.991	T	0.00473	-1.1718	10	0.48119	T	0.1	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	281;623;598	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	H	598;623;372;281	ENSP00000368169:Q598H;ENSP00000368166:Q623H	ENSP00000263743:Q281H	Q	-	3	2	2	DVL1	1261604	1261604	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.953000	0.40352	2.607000	0.88179	0.555000	0.69702	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.741	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_004421			23	22		101	97	0		1	1		0	0	17	0		9.999995e-01	5.861461e-01	0	4	0	6	0	23	101
DVL1	1855	broad.mit.edu	37	1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	620					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731																																						ENST00000378888.5	1.000000	0.790000	9.900000e-01	8.800000e-01	0.950000	0.942477	0.950000	0.990000																										0				13						c.(1858-1860)cCg>cTg		dishevelled segment polarity protein 1							11.0	12.0	11.0					1																	1271751		1932	3905	5837	SO:0001583	missense	1855	2	117600	29				g.chr1:1271751G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1859C>T	chr1.hg19:g.1271751G>A	ENSP00000368166:p.Pro620Leu	1					DVL1_ENST00000378891.5_Missense_Mutation_p.P595L	p.P620L			0	1	1	1.838767	O14640	DVL1_HUMAN		15	2143	-	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)	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	1	1	hg19	c.1859C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338007	0.41398	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.48	4.7	4.7	0.59300	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.187522	0.47852	D	0.000217	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.977	D;P;P	0.83275	0.996;0.765;0.654	T	0.01345	-1.1379	10	0.56958	D	0.05	.	18.2311	0.89934	0.0:0.0:1.0:0.0	.	278;620;595	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	L	595;620;369;278	ENSP00000368169:P595L;ENSP00000368166:P620L	ENSP00000263743:P278L	P	-	2	0	0	DVL1	1261614	1261614	1.000000	0.71417	0.838000	0.33150	0.089000	0.18198	8.445000	0.90326	2.607000	0.88179	0.555000	0.69702	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.731	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_004421			26	25		125	119	0		1	1		0	0	21	0		9.999999e-01	5.914101e-01	0	4	0	7	0	26	125
DVL1	1855	broad.mit.edu	37	1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	293	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647																																						ENST00000378888.5	1.000000	0.700000	9.800000e-01	8.000000e-01	0.900000	0.896802	0.900000	0.990000																										0				13						c.(877-879)Ggc>Agc		dishevelled segment polarity protein 1							39.0	44.0	42.0					1																	1275450		2201	4298	6499	SO:0001583	missense	1855	0	0					g.chr1:1275450C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.877G>A	chr1.hg19:g.1275450C>T	ENSP00000368166:p.Gly293Ser	1					DVL1_ENST00000378891.5_Missense_Mutation_p.G293S	p.G293S			0	1	1	1.838767	O14640	DVL1_HUMAN		8	1161	-	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)	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	1	1	hg19	c.877G>A		1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643377	0.67244	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.60548	0.18;0.18	3.43	3.43	0.39272	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.117824	0.56097	D	0.000023	T	0.81143	0.4761	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.921;0.991	D	0.87372	0.2351	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	293;293	O14640;O14640-2	DVL1_HUMAN;.	S	293	ENSP00000368169:G293S;ENSP00000368166:G293S	ENSP00000368166:G293S	G	-	1	0	0	DVL1	1265313	1265313	1.000000	0.71417	0.892000	0.35008	0.156000	0.22039	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_004421			36	35		331	320	0		1	1		0	0	50	0		1	9.999868e-01	0	32	0	126	0	36	331
DVL1	1855	broad.mit.edu	37	1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667																																						ENST00000378888.5	0.980000	0.420000	9.200000e-01	5.800000e-01	0.750000	0.750290	0.750000	0.810000																										0				13						c.(667-669)cGg>cAg		dishevelled segment polarity protein 1							33.0	40.0	38.0					1																	1275821		2195	4294	6489	SO:0001583	missense	1855	4	121040	26				g.chr1:1275821C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.668G>A	chr1.hg19:g.1275821C>T	ENSP00000368166:p.Arg223Gln	1					DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q	p.R223Q			0	1	1	1.838767	O14640	DVL1_HUMAN		6	952	-	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)	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	0	1	hg19	c.668G>A		0	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661443	0.67700	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.06687	3.33;3.27	3.79	3.79	0.43588	3.79	3.79	0.43588	.	0.064020	0.64402	D	0.000008	T	0.27419	0.0673	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.04522	-1.0945	10	0.54805	T	0.06	.	16.225	0.82285	0.0:1.0:0.0:0.0	.	223	O14640-2	.	Q	223	ENSP00000368169:R223Q;ENSP00000368166:R223Q	ENSP00000368166:R223Q	R	-	2	0	0	DVL1	1265684	1265684	1.000000	0.71417	0.955000	0.39395	0.616000	0.37450	7.146000	0.77373	2.127000	0.65507	0.306000	0.20318	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	1		2	2	2	0		0	0	22		22	18	1	2.060000	-15.054870	1	0.170000	NM_004421			10	9		115	104	1		1	1		0	0	22	0		9.954528e-01	9.999210e-01	0	35	0	190	0	10	115
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																						ENST00000378785.2	0.940000	0.250000	7.900000e-01	3.900000e-01	0.570000	0.590259	0.570000	0.550000																										0				7						c.(10-12)gaC>gaT		ATPase family, AAA domain containing 3C							31.0	28.0	29.0					1																	1386075		692	1591	2283	SO:0001819	synonymous_variant	219293	4	121262	30				g.chr1:1386075C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	chr1.hg19:g.1386075C>T		1						p.D4D	NM_001039211.2	NP_001034300.2	0	1	1	1.838767	Q5T2N8	ATD3C_HUMAN		1	1007	+	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;9.48e-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)|Lung SC(97;0.217)	Q8N1Z5	Silent	SNP	ENST00000378785.2	1	1	hg19	c.12C>T	CCDS44039.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-9.796513	1	0.170000	NM_001039211			6	6		103	101	0		1			0	0	32	0		9.643556e-01	0	0	0	0	0	0	6	103
ATAD3C	219293	broad.mit.edu	37	1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667																																						ENST00000378785.2	1.000000	0.570000	9.700000e-01	7.300000e-01	0.870000	0.856216	0.870000	0.990000																										0				7						c.(352-354)Ctt>Att		ATPase family, AAA domain containing 3C							24.0	39.0	35.0					1																	1389854		692	1591	2283	SO:0001583	missense	219293	0	0					g.chr1:1389854C>A	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.352C>A	chr1.hg19:g.1389854C>A	ENSP00000368062:p.Leu118Ile	1						p.L118I	NM_001039211.2	NP_001034300.2	0	1	1	1.838767	Q5T2N8	ATD3C_HUMAN		4	1347	+	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;9.48e-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)|Lung SC(97;0.217)	Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	0	1	hg19	c.352C>A	CCDS44039.1	1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437772	0.12104	.	.	ENSG00000215915	ENST00000378785	D	0.94280	-3.39	2.51	1.4	0.22301	2.51	1.4	0.22301	.	0.515223	0.20329	N	0.094461	D	0.89259	0.6664	M	0.62723	1.935	0.32744	N	0.50728	B	0.23442	0.085	B	0.18561	0.022	D	0.86832	0.2011	10	0.40728	T	0.16	.	6.6244	0.22820	0.0:0.817:0.0:0.183	.	118	Q5T2N8	ATD3C_HUMAN	I	118	ENSP00000368062:L118I	ENSP00000368062:L118I	L	+	1	0	0	ATAD3C	1379717	1379717	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	2.244000	0.43124	1.224000	0.43551	0.195000	0.17529	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	1	0	1		2	2	2	0		0	0	18		18	20	1	2.060000	-19.252280	1	0.170000	NM_001039211			11	10		75	73	0		1	0		0	0	18	0		9.984154e-01	0	0	0	0	1	0	11	75
TNFRSF8	943	broad.mit.edu	37	1	12186098	12186098	+	Missense_Mutation	SNP	G	G	A	rs548102737	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12186098G>A	ENST00000263932.2	+	11	1466	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	415					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)			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)	TGCAGGAAGCGAATTCGGCAG	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17658	0.0		0.0	False		,,,				2504	0.002					ENST00000263932.2	0.310000	0.080000	2.500000e-01	1.200000e-01	0.170000	0.190872	0.170000	0.170000																										0				27						c.(1243-1245)cGa>cAa		tumor necrosis factor receptor superfamily, member 8	Brentuximab vedotin(DB08870)						129.0	120.0	123.0					1																	12186098		2203	4300	6503	SO:0001583	missense	943	18	121412	44				g.chr1:12186098G>A	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.1244G>A	chr1.hg19:g.12186098G>A	ENSP00000263932:p.Arg415Gln	1					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	p.R415Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	0	1	1	1.838767	P28908	TNR8_HUMAN		11	1466	+	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)	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	0	1	hg19	c.1244G>A	CCDS144.1	0	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470834	0.26423	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.09255	3.0;3.0	4.33	2.45	0.29901	4.33	2.45	0.29901	.	55.233600	0.00166	N	0.000000	T	0.12050	0.0293	L	0.50333	1.59	0.24342	N	0.994955	B;B	0.29508	0.013;0.246	B;B	0.12837	0.002;0.008	T	0.26608	-1.0098	10	0.38643	T	0.18	-7.3849	6.8545	0.24032	0.2129:0.0:0.7871:0.0	.	304;415	D3YTD8;P28908	.;TNR8_HUMAN	Q	415;304	ENSP00000263932:R415Q;ENSP00000390650:R304Q	ENSP00000263932:R415Q	R	+	2	0	0	TNFRSF8	12108685	12108685	0.997000	0.39634	0.289000	0.24876	0.896000	0.52359	1.760000	0.38430	0.590000	0.29694	-0.150000	0.13652	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1	0	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-3.077604	1	0.170000				9	10		543	530	0		1	0		0	0	112	0		9.936819e-01	0	0	0	0	1	0	9	543
TNFRSF1B	7133	broad.mit.edu	37	1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H|TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	85					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CATACACCCAGCTCTGGAACT	0.567																																						ENST00000376259.3	1.000000	0.730000	9.700000e-01	8.200000e-01	0.900000	0.898153	0.900000	0.940000																										0				10						c.(253-255)caG>caT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)						148.0	147.0	147.0					1																	12251090		2203	4300	6503	SO:0001583	missense	7133	0	0					g.chr1:12251090G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.255G>T	chr1.hg19:g.12251090G>T	ENSP00000365435:p.Gln85His	1					TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H|MIR4632_ENST00000584158.1_RNA	p.Q85H	NM_001066.2	NP_001057.1	0	1	1	1.838767	P20333	TNR1B_HUMAN		3	344	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	1	1	hg19	c.255G>T	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074733	0.36566	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.90788	-2.73;-2.73	4.1	4.1	0.47936	4.1	4.1	0.47936	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.459943	0.22611	N	0.057824	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	0.999991	D	0.57571	0.98	P	0.47346	0.544	T	0.82744	-0.0306	10	0.54805	T	0.06	-3.5724	12.0529	0.53518	0.0:0.0:1.0:0.0	.	85	P20333	TNR1B_HUMAN	H	85	ENSP00000365435:Q85H;ENSP00000440425:Q85H	ENSP00000365435:Q85H	Q	+	3	2	2	TNFRSF1B	12173677	12173677	0.713000	0.27926	0.452000	0.26994	0.212000	0.24457	1.180000	0.32005	2.312000	0.78011	0.655000	0.94253	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	1	0	1		16	2	2	0		0	1	191		191	191	1	2.060000	-18.910040	1	0.170000	NM_001066			76	74		786	779	0		1	0		0	0	191	0		1	9.944176e-01	0	0	0	82	0	76	786
TNFRSF1B	7133	broad.mit.edu	37	1	12252968	12252968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	200					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGCAGTCTGCACGTCCACGT	0.627																																						ENST00000376259.3	0.960000	0.380000	8.500000e-01	5.100000e-01	0.670000	0.685097	0.670000	0.670000																										0				10						c.(598-600)tgC>tgT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)						152.0	112.0	125.0					1																	12252968		2203	4300	6503	SO:0001819	synonymous_variant	7133	0	0					g.chr1:12252968C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.600C>T	chr1.hg19:g.12252968C>T		1					TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	p.C200C	NM_001066.2	NP_001057.1	0	1	1	1.838767	P20333	TNR1B_HUMAN		6	689	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	1	1	hg19	c.600C>T	CCDS145.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.223604	1	0.170000	NM_001066			12	12		171	166	0		1	1		0	0	41	0		9.990706e-01	9.992908e-01	0	2	0	184	0	12	171
TNFRSF1B	7133	broad.mit.edu	37	1	12266843	12266843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	384					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCACCTGCATCGTGAACGTCT	0.617																																						ENST00000376259.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983152	0.980000	0.990000																										0				10						c.(1150-1152)atC>atT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)						118.0	100.0	106.0					1																	12266843		2203	4300	6503	SO:0001819	synonymous_variant	7133	2	121410	35				g.chr1:12266843C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1152C>T	chr1.hg19:g.12266843C>T		1					TNFRSF1B_ENST00000492361.1_3'UTR	p.I384I	NM_001066.2	NP_001057.1	0	1	1	1.838767	P20333	TNR1B_HUMAN		10	1241	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	1	1	hg19	c.1152C>T	CCDS145.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.531816	1	0.170000	NM_001066			77	76		309	300	1		1	0		0	0	92	0		1	9.999999e-01	0	1	0	98	0	77	309
VPS13D	55187	broad.mit.edu	37	1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		CCCTCCCATCCTTTTGCTTTT	0.413																																						ENST00000358136.3	0.980000	0.470000	9.000000e-01	6.000000e-01	0.750000	0.753262	0.750000	0.770000																										0				130						c.(505-507)cCt>cAt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							178.0	147.0	157.0					1																	12309338		2203	4300	6503	SO:0001583	missense	55187	0	0					g.chr1:12309338C>A	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.506C>A	chr1.hg19:g.12309338C>A	ENSP00000350854:p.Pro169His	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	p.P169H	NM_015378.2	NP_056193.2	0	1	1	1.838767				6	636	+	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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.506C>A	CCDS30588.1	0	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292486	0.59976	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60548	0.18;0.18	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.74034	-0.3794	10	0.62326	D	0.03	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	169;169	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	H	169	ENSP00000348666:P169H;ENSP00000350854:P169H	ENSP00000348666:P169H	P	+	2	0	0	VPS13D	12231925	12231925	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.227000	0.65305	2.573000	0.86826	0.555000	0.69702	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.984080	1	0.170000	NM_015378			17	17		213	210	0		1	1		0	0	45	0		9.999674e-01	2.389504e-01	0	2	0	10	0	17	213
VPS13D	55187	broad.mit.edu	37	1	12368618	12368618	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		TCTTCCCTTCCTATTTTGTGC	0.458																																						ENST00000358136.3	1.000000	0.860000	1	9.200000e-01	0.960000	0.964701	0.960000	0.990000																										0				130						c.(6568-6570)tcC>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							174.0	167.0	169.0					1																	12368618		2203	4300	6503	SO:0001819	synonymous_variant	55187	0	0					g.chr1:12368618C>A	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.6570C>A	chr1.hg19:g.12368618C>A		1					VPS13D_ENST00000356315.4_Silent_p.S2190S	p.S2190S	NM_015378.2	NP_056193.2	0	1	1	1.838767				27	6700	+	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)		Silent	SNP	ENST00000358136.3	1	1	hg19	c.6570C>A	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909829	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.61	4.66	0.58398	5.61	4.66	0.58398	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	4	.	.	.	.	8.5528	0.33462	0.1482:0.771:0.0:0.0809	.	.	.	.	H	1013	.	.	P	+	2	0	0	VPS13D	12291205	12291205	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	0.658000	0.24979	1.274000	0.44362	-0.355000	0.07637	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	0		2	2	2	0		0	0	169		169	169	1	2.060000	-2.920853	1	0.170000	NM_015378			85	82		641	616	1		1	1		0	0	169	0		1	9.627066e-01	0	3	0	39	0	85	641
VPS13D	55187	broad.mit.edu	37	1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		CCTCTTAACCGAGCCTTGTAG	0.468																																						ENST00000358136.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.939531	0.940000	0.990000																										0				130						c.(6607-6609)Gag>Aag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							143.0	141.0	142.0					1																	12368655		2203	4300	6503	SO:0001583	missense	55187	1	121412	38				g.chr1:12368655G>A	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.6607G>A	chr1.hg19:g.12368655G>A	ENSP00000350854:p.Glu2203Lys	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	p.E2203K	NM_015378.2	NP_056193.2	0	1	1	1.838767				27	6737	+	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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.6607G>A	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.566759	0.96540	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.052127	0.85682	D	0.000000	T	0.64271	0.2583	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.56962	-0.7892	10	0.27082	T	0.32	.	19.6382	0.95746	0.0:0.0:1.0:0.0	.	2203;2203	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2203	ENSP00000348666:E2203K;ENSP00000350854:E2203K	ENSP00000348666:E2203K	E	+	1	0	0	VPS13D	12291242	12291242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.636000	0.89361	0.650000	0.86243	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	0		2	2	2	0		0	0	133		133	133	1	2.060000	-3.075755	1	0.170000	NM_015378			65	62		558	529	1		1	1		0	0	133	0		1	8.590221e-01	0	5	0	27	0	65	558
VPS13D	55187	broad.mit.edu	37	1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		CAACCTGGGAGAACCCATAGA	0.438																																						ENST00000358136.3	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.914040	0.920000	0.990000																										0				130						c.(6769-6771)Gaa>Aaa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							132.0	135.0	134.0					1																	12371629		2203	4300	6503	SO:0001583	missense	55187	0	0					g.chr1:12371629G>A	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.6769G>A	chr1.hg19:g.12371629G>A	ENSP00000350854:p.Glu2257Lys	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	p.E2257K	NM_015378.2	NP_056193.2	0	1	1	1.838767				28	6899	+	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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.6769G>A	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.672011	0.96754	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.72852	-0.4167	10	0.72032	D	0.01	.	19.7435	0.96241	0.0:0.0:1.0:0.0	.	2257;2257	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2257	ENSP00000348666:E2257K;ENSP00000350854:E2257K	ENSP00000348666:E2257K	E	+	1	0	0	VPS13D	12294216	12294216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	163		163	163	1	2.060000	-18.380630	1	0.170000	NM_015378			68	65		662	653	1		1	1		0	0	163	0		1	9.226442e-01	0	7	0	37	0	68	662
VPS13D	55187	broad.mit.edu	37	1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		GATGGCTTTTGACACCCGTTA	0.458																																						ENST00000358136.3	1.000000	0.640000	9.700000e-01	7.600000e-01	0.880000	0.874298	0.880000	0.990000																										0				130						c.(7027-7029)Gac>Aac		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93.0	90.0	91.0					1																	12374263		2203	4300	6503	SO:0001583	missense	55187	0	0					g.chr1:12374263G>A	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.7027G>A	chr1.hg19:g.12374263G>A	ENSP00000350854:p.Asp2343Asn	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	p.D2343N	NM_015378.2	NP_056193.2	0	1	1	1.838767				30	7157	+	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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.7027G>A	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.356181	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78456	2.415	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	0.71034	-0.4709	10	0.66056	D	0.02	.	19.2035	0.93720	0.0:0.0:1.0:0.0	.	250;2343;2343	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	N	2343	ENSP00000348666:D2343N;ENSP00000350854:D2343N	ENSP00000348666:D2343N	D	+	1	0	0	VPS13D	12296850	12296850	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_015378			23	22		206	203	1		1	1		0	0	39	0		9.999994e-01	8.913820e-01	0	3	0	34	0	23	206
VPS13D	55187	broad.mit.edu	37	1	12395787	12395787	+	Silent	SNP	G	G	A	rs374262916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		CCAAGGAATCGTGGATGGCAG	0.408																																						ENST00000358136.3	1.000000	0.740000	9.800000e-01	8.400000e-01	0.920000	0.915014	0.920000	0.990000																										0				130						c.(8452-8454)tcG>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)		G	,	0,4406		0,0,2203	136.0	133.0	134.0		8454,8454	-11.2	0.0	1		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2818/4389,2818/4364	12395787	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187	1	121412	33				g.chr1:12395787G>A	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.8454G>A	chr1.hg19:g.12395787G>A		1					VPS13D_ENST00000356315.4_Silent_p.S2818S	p.S2818S	NM_015378.2	NP_056193.2	0	1	1	1.838767				39	8584	+	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)		Silent	SNP	ENST00000358136.3	1	1	hg19	c.8454G>A	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532045	0.13127	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	5.62	-11.2	0.00127	5.62	-11.2	0.00127	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63005	-0.6733	4	.	.	.	.	9.2345	0.37457	0.5866:0.251:0.1053:0.057	.	.	.	.	H	1641	.	.	R	+	2	0	0	VPS13D	12318374	12318374	0.000000	0.05858	0.026000	0.17262	0.978000	0.69477	-1.834000	0.01693	-3.631000	0.00129	-0.710000	0.03640	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-15.134680	1	0.170000	NM_015378			45	45		402	398	1		1	1		0	0	89	0		1	8.441497e-01	0	9	0	23	0	45	402
VPS13D	55187	broad.mit.edu	37	1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		ATTGTGTGTCGAGCAGAAGGA	0.468																																						ENST00000358136.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983740	0.980000	0.990000																										0				130						c.(9811-9813)cGa>cAa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							127.0	115.0	119.0					1																	12416088		2203	4300	6503	SO:0001583	missense	55187	0	0					g.chr1:12416088G>A	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.9812G>A	chr1.hg19:g.12416088G>A	ENSP00000350854:p.Arg3271Gln	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	p.R3271Q	NM_015378.2	NP_056193.2	0	1	1	1.838767				48	9942	+	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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.9812G>A	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150367|5.150367	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.89|5.89	5.89|5.89	0.94794|0.94794	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.49887	.|0.625;0.526	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.17369	.|T	.|0.5	.|.	20.2617|20.2617	0.98447|0.98447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3246;3270	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	K|Q	2093|3246;3271	.|ENSP00000348666:R3246Q;ENSP00000350854:R3271Q	.|ENSP00000348666:R3246Q	E|R	+|+	1|2	0|0	0|0	VPS13D|VPS13D	12338675|12338675	12338675|12338675	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.305146	1	0.170000	NM_015378			75	74		274	270	1		1	1		0	0	82	0		1	9.999420e-01	0	16	0	39	0	75	274
DHRS3	9249	broad.mit.edu	37	1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	232					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582																																						ENST00000376223.2	0.980000	0.530000	9.200000e-01	6.500000e-01	0.790000	0.789338	0.790000	0.810000																										0				9						c.(694-696)gTc>gGc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						59.0	53.0	55.0					1																	12638749		2203	4300	6503	SO:0001583	missense	9249	0	0					g.chr1:12638749A>C	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.695T>G	chr1.hg19:g.12638749A>C	ENSP00000365397:p.Val232Gly	1					DHRS3_ENST00000482265.1_5'Flank	p.V232G	NM_004753.4	NP_004744.2	0	1	1	1.838767	O75911	DHRS3_HUMAN		4	1078	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	1	1	hg19	c.695T>G	CCDS146.1	0	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630471	0.67015	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89196	-2.48;-1.4	5.53	5.53	0.82687	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.165909	0.52532	D	0.000074	D	0.85691	0.5755	L	0.47716	1.5	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.6559	0.77133	1.0:0.0:0.0:0.0	.	232	O75911	DHRS3_HUMAN	G	232;147	ENSP00000365397:V232G;ENSP00000387903:V147G	ENSP00000365397:V232G	V	-	2	0	0	DHRS3	12561336	12561336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.952000	0.93031	2.091000	0.63221	0.482000	0.46254	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_004753			22	21		260	254	1		1	1		0	0	62	0		9.999986e-01	1	0	54	0	412	0	22	260
AADACL4	343066	broad.mit.edu	37	1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	369						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		GCGTGACATGGTACCACCTGT	0.478																																						ENST00000376221.1	1.000000	0.810000	9.900000e-01	8.800000e-01	0.950000	0.943658	0.950000	0.990000																										0				17						c.(1105-1107)tgG>tgA		arylacetamide deacetylase-like 4							87.0	89.0	88.0					1																	12726629		2203	4300	6503	SO:0001587	stop_gained	343066	0	0					g.chr1:12726629G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1107G>A	chr1.hg19:g.12726629G>A	ENSP00000365395:p.Trp369*	1						p.W369*	NM_001013630.1	NP_001013652.1	0	1	1	1.838767	Q5VUY2	ADCL4_HUMAN		4	1107	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		Nonsense_Mutation	SNP	ENST00000376221.1	0	1	hg19	c.1107G>A	CCDS30590.1	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311381	0.23821	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.53	1.47	0.22746	4.53	1.47	0.22746	.	0.068503	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6505	5.0584	0.14544	0.0817:0.1461:0.621:0.1512	.	.	.	.	X	369	.	ENSP00000365395:W369X	W	+	3	0	0	AADACL4	12649216	12649216	0.994000	0.37717	0.004000	0.12327	0.020000	0.10135	2.300000	0.43620	0.120000	0.18254	0.655000	0.94253	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	1	0	0		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_001013630			65	65		543	532	0		1			0	0	123	0		1	0	0	0	0	0	0	65	543
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478																																						ENST00000376221.1	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.918705	0.920000	0.990000																										0				17						c.(1159-1161)gCt>gTt		arylacetamide deacetylase-like 4							65.0	71.0	69.0					1																	12726682		2203	4300	6503	SO:0001583	missense	343066	0	0					g.chr1:12726682C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1160C>T	chr1.hg19:g.12726682C>T	ENSP00000365395:p.Ala387Val	1						p.A387V	NM_001013630.1	NP_001013652.1	0	1	1	1.838767	Q5VUY2	ADCL4_HUMAN		4	1160	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		Missense_Mutation	SNP	ENST00000376221.1	1	1	hg19	c.1160C>T	CCDS30590.1	1	.	.	.	.	.	.	.	.	.	.	C	4.428	0.079249	0.08533	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	4.53	-9.05	0.00730	4.53	-9.05	0.00730	.	1.865950	0.02502	N	0.090580	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36553	-0.9743	10	0.17369	T	0.5	12.6824	3.0524	0.06173	0.1666:0.3435:0.341:0.1489	.	387	Q5VUY2	ADCL4_HUMAN	V	387	ENSP00000365395:A387V	ENSP00000365395:A387V	A	+	2	0	0	AADACL4	12649269	12649269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.630000	0.00032	-3.514000	0.00149	-0.882000	0.02950	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	1	0	0		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_001013630			54	53		495	486	0		1			0	0	112	0		1	0	0	0	0	0	0	54	495
AADACL3	126767	broad.mit.edu	37	1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000359318.5	+	3	427	c.222C>A	c.(220-222)caC>caA	p.H74Q	AADACL3_ENST00000332530.3_Missense_Mutation_p.H4Q	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	74							hydrolase activity (GO:0016787)			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)		TAGAAACCCACCATGGCATAT	0.507																																						ENST00000359318.5	1.000000	0.920000	1	9.600000e-01	0.980000	0.982850	0.980000	0.990000																										0				15						c.(220-222)caC>caA		arylacetamide deacetylase-like 3							108.0	110.0	109.0					1																	12780892		1898	4124	6022	SO:0001583	missense	126767	0	0					g.chr1:12780892C>A		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.222C>A	chr1.hg19:g.12780892C>A	ENSP00000352268:p.His74Gln	1					AADACL3_ENST00000332530.3_Missense_Mutation_p.H4Q	p.H74Q	NM_001103170.1	NP_001096640.1	0	1	1	1.838767	Q5VUY0	ADCL3_HUMAN		3	427	+	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)	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	1	1	hg19	c.222C>A	CCDS41253.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769079	0.49680	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.23	2.27	0.28462	5.23	2.27	0.28462	Alpha/beta hydrolase fold-3 (1);	0.855661	0.10581	N	0.657924	T	0.34919	0.0914	M	0.90814	3.15	0.09310	N	1	B;D	0.62365	0.04;0.991	B;D	0.64506	0.062;0.926	T	0.09357	-1.0678	10	0.66056	D	0.02	-0.5016	7.4747	0.27369	0.0:0.5493:0.0:0.4507	.	74;4	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	Q	4;74	ENSP00000333352:H4Q;ENSP00000352268:H74Q	ENSP00000333352:H4Q	H	+	3	2	2	AADACL3	12703479	12703479	0.001000	0.12720	0.002000	0.10522	0.976000	0.68499	0.092000	0.15066	0.196000	0.20367	0.491000	0.48974	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_001103170			84	83		387	377	1		1			0	0	91	0		1	0	0	0	0	0	0	84	387
C1orf158	93190	broad.mit.edu	37	1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	96										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562																																						ENST00000288048.5	0.680000	0.400000	6.100000e-01	4.600000e-01	0.530000	0.541952	0.530000	0.530000																										0				10						c.(286-288)aGc>aAc		chromosome 1 open reading frame 158							206.0	206.0	206.0					1																	12819304		2203	4300	6503	SO:0001583	missense	93190	0	0					g.chr1:12819304G>A	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.287G>A	chr1.hg19:g.12819304G>A	ENSP00000288048:p.Ser96Asn	1					C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	p.S96N	NM_152290.2	NP_689503.2	0	1	1	1.838767	Q8N1D5	CA158_HUMAN		3	503	+	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)	Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	1	1	hg19	c.287G>A	CCDS147.1	0	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804930	0.70682	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.62788	0.0;0.25	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.115133	0.56097	D	0.000026	T	0.78898	0.4356	M	0.79475	2.455	0.50171	D	0.999856	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.81625	-0.0848	10	0.87932	D	0	-32.5078	14.1817	0.65578	0.0:0.0:1.0:0.0	.	96;96	B4DQE0;Q8N1D5	.;CA158_HUMAN	N	96;58	ENSP00000288048:S96N;ENSP00000365383:S58N	ENSP00000288048:S96N	S	+	2	0	0	C1orf158	12741891	12741891	0.991000	0.36638	0.998000	0.56505	0.605000	0.37080	2.100000	0.41777	2.428000	0.82296	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	1	0	1		2	2	2	0		0	0	253		253	252	1	2.060000	-6.103117	1	0.170000	NM_152290			51	51		970	946	0		1			0	0	253	0		1	0	0	0	0	0	0	51	970
PRAMEF12	390999	broad.mit.edu	37	1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	119					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)					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)		ATGGTCTGGAGCTTCTGCACT	0.537																																						ENST00000357726.4	1.000000	0.960000	1	9.800000e-01	0.990000	0.994191	0.990000	1.000000																										0				23						c.(355-357)Gct>Tct		PRAME family member 12							134.0	152.0	146.0					1																	12835753		2166	4291	6457	SO:0001583	missense	390999	0	0					g.chr1:12835753G>T		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.355G>T	chr1.hg19:g.12835753G>T	ENSP00000350358:p.Ala119Ser	1						p.A119S	NM_001080830.1	NP_001074299.1	0	1	1	1.838767	O95522	PRA12_HUMAN		2	382	+	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)		Missense_Mutation	SNP	ENST00000357726.4	1	1	hg19	c.355G>T	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	8.614	0.889750	0.17540	.	.	ENSG00000116726	ENST00000357726	T	0.17213	2.29	2.8	-2.5	0.06384	2.8	-2.5	0.06384	.	3.019180	0.01114	N	0.005651	T	0.22704	0.0548	L	0.42581	1.335	0.09310	N	1	D	0.54207	0.965	P	0.54664	0.758	T	0.38887	-0.9640	10	0.10111	T	0.7	.	7.5906	0.28019	0.6577:0.0:0.3423:0.0	.	119	O95522	PRA12_HUMAN	S	119	ENSP00000350358:A119S	ENSP00000350358:A119S	A	+	1	0	0	PRAMEF12	12758340	12758340	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	-0.190000	0.09615	-0.686000	0.05170	-0.657000	0.03884	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	1		2	2	2	0		0	0	225		225	224	1	2.060000	-20.000000	1	0.170000	XM_372760			184	184		738	726	1		1			0	0	225	0		1	0	0	0	0	0	0	184	738
PRAMEF12	390999	broad.mit.edu	37	1	12836043	12836043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	215					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)					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)		GCCCGTGGGAGCTGTCCATTC	0.517																																						ENST00000357726.4	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.917308	0.920000	0.990000																										0				23						c.(643-645)gaG>gaA		PRAME family member 12							156.0	163.0	161.0					1																	12836043		2203	4300	6503	SO:0001819	synonymous_variant	390999	0	0					g.chr1:12836043G>A		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.645G>A	chr1.hg19:g.12836043G>A		1						p.E215E	NM_001080830.1	NP_001074299.1	0	1	1	1.838767	O95522	PRA12_HUMAN		2	672	+	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)		Silent	SNP	ENST00000357726.4	1	1	hg19	c.645G>A	CCDS41254.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-17.624550	1	0.170000	XM_372760			59	58		554	538	0		1			0	0	140	0		1	0	0	0	0	0	0	59	554
PRAMEF12	390999	broad.mit.edu	37	1	12837595	12837595	+	Silent	SNP	G	G	A	rs374628181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	435					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)					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)		TTGGGGCTGAGCTGATGAAGA	0.562																																						ENST00000357726.4	1.000000	0.730000	9.700000e-01	8.200000e-01	0.900000	0.902172	0.900000	0.970000																										0				23						c.(1303-1305)gaG>gaA		PRAME family member 12							122.0	125.0	124.0					1																	12837595		2203	4300	6503	SO:0001819	synonymous_variant	390999	0	0					g.chr1:12837595G>A		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.1305G>A	chr1.hg19:g.12837595G>A		1						p.E435E	NM_001080830.1	NP_001074299.1	0	1	1	1.838767	O95522	PRA12_HUMAN		3	1332	+	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)		Silent	SNP	ENST00000357726.4	1	1	hg19	c.1305G>A	CCDS41254.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-16.734180	1	0.170000	XM_372760			61	60		608	596	0		1			0	0	160	0		1	0	0	0	0	0	0	61	608
PRAMEF12	390999	broad.mit.edu	37	1	12837727	12837727	+	Missense_Mutation	SNP	G	G	T	rs376965379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	ENST00000357726.4	+	3	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479					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)					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)		CCTGCTGTCAGGGTGGATTTA	0.502																																						ENST00000357726.4	0.740000	0.310000	6.300000e-01	4.000000e-01	0.500000	0.519886	0.500000	0.500000																										0				23						c.(1435-1437)caG>caT		PRAME family member 12							67.0	70.0	69.0					1																	12837727		2203	4300	6503	SO:0001583	missense	390999	0	0					g.chr1:12837727G>T		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.1437G>T	chr1.hg19:g.12837727G>T	ENSP00000350358:p.Gln479His	1						p.Q479H	NM_001080830.1	NP_001074299.1	0	1	1	1.838767	O95522	PRA12_HUMAN		3	1464	+	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)		Missense_Mutation	SNP	ENST00000357726.4	0	1	hg19	c.1437G>T	CCDS41254.1	0	.	.	.	.	.	.	.	.	.	.	.	7.381	0.628857	0.14257	.	.	ENSG00000116726	ENST00000357726	T	0.01369	4.97	2.45	1.49	0.22878	2.45	1.49	0.22878	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.42245	0.381	T	0.54364	-0.8305	9	0.87932	D	0	.	6.5031	0.22180	0.0:0.0:0.7144:0.2856	.	479	O95522	PRA12_HUMAN	H	479	ENSP00000350358:Q479H	ENSP00000350358:Q479H	Q	+	3	2	2	PRAMEF12	12760314	12760314	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.035000	0.13797	0.553000	0.29044	0.205000	0.17691	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.850897	1	0.170000	XM_372760			19	19		383	376	0		1			0	0	71	0		9.999898e-01	0	0	0	0	0	0	19	383
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110					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.E110*(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)		GGATGTTGACGAGAATTTCTG	0.532																																						ENST00000332296.7	0.730000	0.520000	6.800000e-01	5.700000e-01	0.620000	0.633273	0.620000	0.630000																										2	Substitution - Nonsense(2)	p.E110*(2)	lung(2)	35						c.(328-330)Gag>Aag		PRAME family member 1							172.0	188.0	182.0					1																	12854104		2203	4300	6503	SO:0001583	missense	65121	2	121412	33				g.chr1:12854104G>A	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.328G>A	chr1.hg19:g.12854104G>A	ENSP00000332134:p.Glu110Lys	1					PRAMEF1_ENST00000400814.3_5'Flank	p.E110K	NM_023013.2	NP_075389.1	0	1	1	1.838767	O95521	PRAM1_HUMAN		3	431	+	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)	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	0	1	hg19	c.328G>A	CCDS148.1	0	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043691	0.36085	.	.	ENSG00000116721	ENST00000332296	T	0.17370	2.28	1.7	-0.472	0.12115	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	T	0.34978	0.0916	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.20874	-1.0262	10	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	110	O95521	PRAM1_HUMAN	K	110	ENSP00000332134:E110K	ENSP00000332134:E110K	E	+	1	0	0	PRAMEF1	12776691	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	1	0	1		2	2	2	0		0	0	606		606	621	1	2.060000	-14.258150	1	0.170000	NM_023013			132	34		2117	1392	0		1			0	0	606	0		1	0	0	0	0	0	0	132	2117
PRAMEF1	65121	broad.mit.edu	37	1	12854270	12854270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	ENST00000332296.7	+	3	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	165					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)					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)		GAATGCCTGAGATACCTCTTC	0.468																																						ENST00000332296.7	1.000000	0.820000	9.900000e-01	8.800000e-01	0.940000	0.937360	0.940000	0.990000																										0				35						c.(493-495)aGa>aTa		PRAME family member 1							106.0	109.0	108.0					1																	12854270		2197	4281	6478	SO:0001583	missense	65121	0	0					g.chr1:12854270G>T	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.494G>T	chr1.hg19:g.12854270G>T	ENSP00000332134:p.Arg165Ile	1					PRAMEF1_ENST00000400814.3_5'Flank	p.R165I	NM_023013.2	NP_075389.1	0	1	1	1.838767	O95521	PRAM1_HUMAN		3	597	+	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)	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	0	1	hg19	c.494G>T	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	4.183	0.032520	0.08101	.	.	ENSG00000116721	ENST00000332296	T	0.04454	3.62	1.74	-3.49	0.04724	1.74	-3.49	0.04724	.	0.681446	0.14085	N	0.342416	T	0.01835	0.0058	N	0.03324	-0.35	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.39292	-0.9621	10	0.51188	T	0.08	.	4.8258	0.13416	0.0:0.5477:0.1809:0.2714	.	165	O95521	PRAM1_HUMAN	I	165	ENSP00000332134:R165I	ENSP00000332134:R165I	R	+	2	0	0	PRAMEF1	12776857	12776857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.077000	0.03416	-1.126000	0.02929	-2.386000	0.00229	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	0	0	1		7	2	2	1		1	1	386		386	719	1	2.060000	-20.000000	1	0.170000	NM_023013			141	102		1387	836	0		1			1	0	386	0		1	0	0	0	0	0	0	141	1387
HNRNPCL1	343069	broad.mit.edu	37	1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	50	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGGCAAAGCCCTTATGAACAG	0.458																																						ENST00000317869.6			0	0																														0				29						c.(148-150)aaG>aaT		heterogeneous nuclear ribonucleoprotein C-like 1							92.0	92.0	92.0					1																	12907993		2203	4297	6500	SO:0001583	missense	343069	0	0					g.chr1:12907993C>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.150G>T	chr1.hg19:g.12907993C>A	ENSP00000365370:p.Lys50Asn							p.K50N	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					O60812	HNRC1_HUMAN		2	375	-			B2RP44	Missense_Mutation	SNP	ENST00000317869.6	1	1	hg19	c.150G>T	CCDS30591.1		.	.	.	.	.	.	.	.	.	.	C	13.66	2.303196	0.40795	.	.	ENSG00000179172	ENST00000317869	T	0.52983	0.64	1.09	0.111	0.14619	1.09	0.111	0.14619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.44973	0.1319	M	0.68317	2.08	0.49130	D	0.999759	P	0.41978	0.767	B	0.44224	0.444	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.017	0.24892	0.0:0.7118:0.2881:0.0	.	50	O60812	HNRCL_HUMAN	N	50	ENSP00000365370:K50N	ENSP00000365370:K50N	K	-	3	2	2	HNRNPCL1	12830580	12830580	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	0.593000	0.23999	0.051000	0.15978	-0.527000	0.04329	AAG			TCGA-IB-7651-01A-11D-2154-08	0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	1	0	1		2	2	2	0		0	0	123		123	142	1	2.060000	-2.665581	1	0.170000	NM_001013631			72	56		660	527	0		1			0	0	123	0		1	0	0	0	0	0	0	72	660
PDPN	10630	broad.mit.edu	37	1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000509009.1	+	5	499	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000294489.6_Missense_Mutation_p.S233L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418																																						ENST00000509009.1	1.000000	0.870000	1	9.000000e-01	0.920000	0.937496	0.920000	0.930000																										0				16						c.(454-456)tCg>tTg		podoplanin		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	189.0	178.0	182.0		344,344,698,698	5.8	1.0	1	dbSNP_134	182	0,8600		0,0,4300	no	missense,missense,missense,missense	PDPN	NM_001006624.1,NM_001006625.1,NM_006474.4,NM_198389.2	145,145,145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	115/121,115/119,233/239,233/237	13940894	1,13005	2203	4300	6503	SO:0001583	missense	10630	2	121412	38				g.chr1:13940894C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.455C>T	chr1.hg19:g.13940894C>T	ENSP00000422977:p.Ser152Leu	1					PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000294489.6_Missense_Mutation_p.S233L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L	p.S152L			0	0	0	1.821110			GBM - Glioblastoma multiforme(2;0.00182)	5	499	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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)		Missense_Mutation	SNP	ENST00000509009.1	1	1	hg19	c.455C>T		1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585070	0.86748	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000146	T	0.63581	0.2523	M	0.66939	2.045	0.43250	D	0.995171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64931	-0.6291	10	0.87932	D	0	-28.3123	15.5833	0.76462	0.0:1.0:0.0:0.0	.	157;115;233;233	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	L	233;233;224;152;115;115;115;115	ENSP00000294489:S233L;ENSP00000365225:S233L;ENSP00000426302:S224L;ENSP00000422977:S152L;ENSP00000365229:S115L;ENSP00000425304:S115L;ENSP00000427537:S115L;ENSP00000426063:S115L	ENSP00000294489:S233L	S	+	2	0	0	PDPN	13813481	13813481	0.997000	0.39634	0.987000	0.45799	0.922000	0.55478	4.468000	0.60162	2.765000	0.95021	0.655000	0.94253	TCG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-3.154766	1	0.170000	NM_006474			86	81		372	368	1		1	0		0	0	100	0		1	1	0	0	0	455	0	86	372
PRDM2	7799	broad.mit.edu	37	1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000343137.4_5'Flank	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	141	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			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)		GTCTGGTACAATGGGGAAGAC	0.667																																						ENST00000235372.7	1.000000	0.680000	9.300000e-01	7.900000e-01	0.880000	0.868847	0.880000	0.930000																										0				55						c.(421-423)aAt>aCt		PR domain containing 2, with ZNF domain							17.0	19.0	18.0					1																	14075893		2197	4291	6488	SO:0001583	missense	7799	0	0					g.chr1:14075893A>C	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.422A>C	chr1.hg19:g.14075893A>C	ENSP00000235372:p.Asn141Thr	1					PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000413440.1_5'Flank	p.N141T	NM_012231.4	NP_036363.2	0	0	0	1.821110	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	6	1278	+	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)	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	1	1	hg19	c.422A>C	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	a	14.81	2.646882	0.47258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.69	3.69	0.42338	3.69	3.69	0.42338	SET domain (3);	0.117295	0.56097	D	0.000024	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.996916	B;B;B	0.28178	0.202;0.168;0.005	B;B;B	0.39771	0.309;0.205;0.021	T	0.75453	-0.3312	10	0.39692	T	0.17	.	10.6381	0.45577	1.0:0.0:0.0:0.0	.	141;141;141	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	132;141;141;141;141	ENSP00000423010:N132T;ENSP00000365216:N141T;ENSP00000235372:N141T;ENSP00000312352:N141T	ENSP00000235372:N141T	N	+	2	0	0	PRDM2	13948480	13948480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	1.661000	0.50771	0.524000	0.50904	AAT	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_012231			18	18		91	90	0		1	0		0	0	23	0		9.999889e-01	4.066417e-01	0	0	0	8	0	18	91
PRDM2	7799	broad.mit.edu	37	1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 6; AAA87023). {ECO:0000305}.	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)			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)		GCCAGAAATACGGTGTGATGA	0.423																																						ENST00000235372.7	1.000000	0.870000	1	9.000000e-01	0.920000	0.938924	0.920000	0.930000																										0				55						c.(931-933)Cgg>Tgg		PR domain containing 2, with ZNF domain							93.0	93.0	93.0					1																	14105221		2203	4300	6503	SO:0001583	missense	7799	1	121412	31				g.chr1:14105221C>T	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.931C>T	chr1.hg19:g.14105221C>T	ENSP00000235372:p.Arg311Trp	1					PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W	p.R311W	NM_012231.4	NP_036363.2	0	0	0	1.821110	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	8	1787	+	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)	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	1	1	hg19	c.931C>T	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927125	0.34002	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.79;4.68;4.68;4.68	5.67	4.73	0.59995	5.67	4.73	0.59995	.	0.997794	0.08122	N	0.994503	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.999;0.978;1.0;1.0	P;B;D;D	0.64321	0.841;0.328;0.922;0.924	T	0.37753	-0.9692	10	0.72032	D	0.01	.	11.1206	0.48287	0.0:0.7614:0.2386:0.0	.	311;169;311;311	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	311;311;311;110;110	ENSP00000235372:R311W;ENSP00000312352:R311W;ENSP00000411103:R110W;ENSP00000341621:R110W	ENSP00000235372:R311W	R	+	1	2	2	PRDM2	13977808	13977808	0.000000	0.05858	0.822000	0.32727	0.952000	0.60782	0.436000	0.21526	2.666000	0.90696	0.561000	0.74099	CGG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.462541	1	0.170000	NM_012231			84	81		319	305	1		1	1		0	0	77	0		1	9.999819e-01	0	8	0	55	0	84	319
PRDM2	7799	broad.mit.edu	37	1	14105607	14105607	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.N238N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	439					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)			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)		CTGGAGAAAACGTTGCTTCAA	0.502																																						ENST00000235372.7	1.000000	0.870000	1	9.000000e-01	0.920000	0.936625	0.920000	0.930000																										0				55						c.(1315-1317)aaC>aaT		PR domain containing 2, with ZNF domain							44.0	44.0	44.0					1																	14105607		2203	4300	6503	SO:0001819	synonymous_variant	7799	0	0					g.chr1:14105607C>T	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.1317C>T	chr1.hg19:g.14105607C>T		1					PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N	p.N439N	NM_012231.4	NP_036363.2	0	0	0	1.821110	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	8	2173	+	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)	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	1	1	hg19	c.1317C>T	CCDS150.1	1																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_012231			70	69		220	218	1		1	1		0	0	67	0		1	9.995313e-01	0	7	0	32	0	70	220
PRDM2	7799	broad.mit.edu	37	1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1163					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)			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)		TGGCCCTTCAAATGTGAATTT	0.353																																						ENST00000235372.7	0.550000	0.240000	4.700000e-01	3.000000e-01	0.370000	0.388883	0.370000	0.370000																										0				55						c.(3487-3489)aAa>aGa		PR domain containing 2, with ZNF domain							109.0	112.0	111.0					1																	14107778		2203	4300	6503	SO:0001583	missense	7799	0	0					g.chr1:14107778A>G	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.3488A>G	chr1.hg19:g.14107778A>G	ENSP00000235372:p.Lys1163Arg	1					PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R	p.K1163R	NM_012231.4	NP_036363.2	0	0	0	1.821110	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	8	4344	+	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)	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	1	1	hg19	c.3488A>G	CCDS150.1	0	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932550	0.73442	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.97	5.97	0.96955	5.97	5.97	0.96955	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	0.52533	0.1740	L	0.60067	1.865	0.58432	D	0.999991	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.85130	0.912;0.994;0.997	T	0.51426	-0.8707	10	0.54805	T	0.06	.	15.2744	0.73732	1.0:0.0:0.0:0.0	.	1021;1163;1163	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	R	1163;1163;1163;962;962	ENSP00000235372:K1163R;ENSP00000312352:K1163R;ENSP00000411103:K962R;ENSP00000341621:K962R	ENSP00000235372:K1163R	K	+	2	0	0	PRDM2	13980365	13980365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.288000	0.76882	0.533000	0.62120	AAA	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	0	1		2	3	2	1		1	0	126		126	125	1	2.060000	-18.870480	1	0.170000	NM_012231			21	21		572	563	0		1	0		1	0	126	0		9.999971e-01	3.226765e-01	0	2	0	52	0	21	572
PRDM2	7799	broad.mit.edu	37	1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1604					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)			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)		TGCTCAGCTTTCCAGCAAAAC	0.453																																						ENST00000235372.7	1.000000	0.710000	9.300000e-01	8.000000e-01	0.880000	0.873336	0.880000	0.930000																										0				55						c.(4810-4812)Tcc>Gcc		PR domain containing 2, with ZNF domain							74.0	75.0	74.0					1																	14109100		2203	4300	6503	SO:0001583	missense	7799	0	0					g.chr1:14109100T>G	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.4810T>G	chr1.hg19:g.14109100T>G	ENSP00000235372:p.Ser1604Ala	1					PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A	p.S1604A	NM_012231.4	NP_036363.2	0	0	0	1.821110	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	8	5666	+	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)	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	1	1	hg19	c.4810T>G	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778059	0.02929	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01505	4.94;4.82;4.83;4.83	6.07	2.34	0.29019	6.07	2.34	0.29019	.	0.425927	0.25929	N	0.027383	T	0.01124	0.0037	N	0.17674	0.51	0.09310	N	1	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.001	T	0.48490	-0.9031	10	0.05620	T	0.96	.	8.4467	0.32847	0.1201:0.0:0.4366:0.4433	.	1462;1604;1604	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1604;1604;1604;1403;1403	ENSP00000235372:S1604A;ENSP00000312352:S1604A;ENSP00000411103:S1403A;ENSP00000341621:S1403A	ENSP00000235372:S1604A	S	+	1	0	0	PRDM2	13981687	13981687	0.000000	0.05858	0.741000	0.31004	0.125000	0.20455	0.034000	0.13776	0.540000	0.28808	0.533000	0.62120	TCC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-14.152880	1	0.170000	NM_012231			36	36		294	286	1		1	1		0	0	83	0		1	9.974829e-01	0	6	0	71	0	36	294
FCGR1B	2210	broad.mit.edu	37	1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	116	Ig-like C2-type 2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GGTTCTCCTTCCATGAAGACT	0.463																																						ENST00000369384.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(346-348)Gaa>Aaa		Fc fragment of IgG, high affinity Ib, receptor (CD64)	Intravenous Immunoglobulin(DB00028)						163.0	160.0	161.0					1																	120930255		2203	4300	6503	SO:0001583	missense	2210	0	0					g.chr1:120930255C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.346G>A	chr1.hg19:g.120930255C>T	ENSP00000358391:p.Glu116Lys	1					RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|FCGR1B_ENST00000472543.1_5'UTR	p.E116K	NM_001017986.3	NP_001017986.1	1	2	3	2.178528	Q92637	FCGRB_HUMAN		4	388	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	1	1	hg19	c.346G>A	CCDS30821.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.766223|1.766223	0.31228|0.31228	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.14766|.	2.48;2.48|.	2.16|2.16	2.16|2.16	0.27623|0.27623	2.16|2.16	2.16|2.16	0.27623|0.27623	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	D|.	0.000080|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.86343|0.86343	2.81|2.81	0.28108|0.28108	N|N	0.931133|0.931133	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.97;0.999|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.87932|.	D|.	0|.	.|.	7.9331|7.9331	0.29914|0.29914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;24;116|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|E	116;24|100	ENSP00000358391:E116K;ENSP00000358390:E24K|.	ENSP00000358390:E24K|.	E|G	-|-	1|2	0|0	0|0	FCGR1B|FCGR1B	120731778|120731778	120731778|120731778	0.970000|0.970000	0.33590|0.33590	0.630000|0.630000	0.29268|0.29268	0.109000|0.109000	0.19521|0.19521	2.941000|2.941000	0.49011|0.49011	1.543000|1.543000	0.49345|0.49345	0.184000|0.184000	0.17185|0.17185	GAA|GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1	1	0	1		2	2	2	0		0	0	164		164	166	1	2.060000	-20.000000	1	0.170000				124	123		525	506	1		1	0		0	0	164	0		1	9.741250e-01	0	0	0	27	0	124	525
PDE4DIP	9659	broad.mit.edu	37	1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					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)			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)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD																																	ENST00000369354.3	0.730000	0.140000	5.400000e-01	2.300000e-01	0.360000	0.395985	0.360000	0.330000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(6982-6984)gCa>gTa		phosphodiesterase 4D interacting protein							238.0	188.0	205.0					1																	144854181		2203	4298	6501	SO:0001583	missense	9659	1	121412	26				g.chr1:144854181G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6983C>T	chr1.hg19:g.144854181G>A	ENSP00000358360:p.Ala2328Val	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V	p.A2328V			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		43	7172	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.6983C>T	CCDS30824.1	0	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	0	PDE4DIP	143565538	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.521358	1	0.170000	NM_022359			5	6		183	175	0		1	0		0	0	43	0		9.319678e-01	2.789223e-01	0	0	0	33	0	5	183
PDE4DIP	9659	broad.mit.edu	37	1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000369354.3	-	41	6904	c.6715G>C	c.(6715-6717)Gcc>Ccc	p.A2239P	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2239					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)			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)		TGGTGCAGGGCACTGGTGCTG	0.582			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(6715-6717)Gcc>Ccc		phosphodiesterase 4D interacting protein							55.0	51.0	52.0					1																	144855838		2203	4296	6499	SO:0001583	missense	9659	0	0					g.chr1:144855838C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6715G>C	chr1.hg19:g.144855838C>G	ENSP00000358360:p.Ala2239Pro	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P	p.A2239P			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		41	6904	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.6715G>C	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843624	0.91197	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.74;4.74;4.75	4.42	3.22	0.36961	4.42	3.22	0.36961	.	.	.	.	.	T	0.01940	0.0061	M	0.67953	2.075	0.32038	N	0.598654	P;D	0.55800	0.95;0.973	P;P	0.52424	0.698;0.674	T	0.43015	-0.9417	9	0.62326	D	0.03	.	4.5549	0.12131	0.0:0.7086:0.0:0.2914	.	2133;2239	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	2133;2239;2239;2324;2375	ENSP00000327209:A2133P;ENSP00000358360:A2239P;ENSP00000358363:A2239P;ENSP00000435654:A2324P;ENSP00000358366:A2375P	ENSP00000327209:A2133P	A	-	1	0	0	PDE4DIP	143567195	143567195	0.994000	0.37717	0.894000	0.35097	0.641000	0.38312	2.755000	0.47540	2.191000	0.70037	0.549000	0.68633	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	68		68	69	1	2.060000	-20.000000	1	0.170000	NM_022359			51	51		273	240	1		1	0		0	0	68	0		1	8.434478e-01	0	0	0	20	0	51	273
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					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)			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)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.870000	1	9.500000e-01	0.990000	0.984611	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(6418-6420)acG>acA		phosphodiesterase 4D interacting protein							256.0	282.0	273.0					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659	10	121412	42				g.chr1:144857634C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	chr1.hg19:g.144857634C>T		1					PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.T2034T	p.T2140T			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		39	6609	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	1	1	hg19	c.6420G>A	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	0	PDE4DIP	143568991	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	289		289	288	1	2.060000	-20.000000	1	0.170000	NM_022359			131	129		1469	1451	0		1	0		0	0	289	0		1	6.811219e-01	0	0	0	28	0	131	1469
PDE4DIP	9659	broad.mit.edu	37	1	144863415	144863415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000369354.3	-	37	6177	c.5988G>A	c.(5986-5988)caG>caA	p.Q1996Q	PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1996					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)			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)		CACACTGTTGCTGCAGGAGAA	0.532			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.990117	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(5986-5988)caG>caA		phosphodiesterase 4D interacting protein							185.0	176.0	179.0					1																	144863415		2203	4300	6503	SO:0001819	synonymous_variant	9659	0	0					g.chr1:144863415C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5988G>A	chr1.hg19:g.144863415C>T		1					PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q	p.Q1996Q			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		37	6177	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	1	1	hg19	c.5988G>A	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088585	0.20390	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.83	2.92	0.33932	4.83	2.92	0.33932	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	.	8.6048	0.33767	0.0:0.8033:0.0:0.1967	.	.	.	.	N	153	.	.	S	-	2	0	0	PDE4DIP	143574772	143574772	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.648000	0.37271	0.542000	0.28846	0.484000	0.47621	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	201		201	203	1	2.060000	-18.508250	1	0.170000	NM_022359			76	75		798	779	0		1	0		0	0	201	0		1	5.847199e-01	0	0	0	22	0	76	798
PDE4DIP	9659	broad.mit.edu	37	1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000369354.3	-	36	5981	c.5792G>T	c.(5791-5793)aGc>aTc	p.S1931I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1931					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)			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)		CTCCCTCAGGCTTTCTGTTTC	0.537			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.991556	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(5791-5793)aGc>aTc		phosphodiesterase 4D interacting protein							77.0	85.0	83.0					1																	144864303		2203	4296	6499	SO:0001583	missense	9659	0	0					g.chr1:144864303C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5792G>T	chr1.hg19:g.144864303C>A	ENSP00000358360:p.Ser1931Ile	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I	p.S1931I			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		36	5981	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.5792G>T	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.583|7.583	0.669135|0.669135	0.14776|0.14776	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01665	.|4.7;4.81;4.81;4.8;4.81	4.52|4.52	2.12|2.12	0.27331|0.27331	4.52|4.52	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	N|N	0.08118|0.08118	0|0	0.24301|0.24301	N|N	0.995126|0.995126	.|B;B	.|0.26744	.|0.047;0.158	.|B;B	.|0.18871	.|0.023;0.021	T|T	0.46624|0.46624	-0.9178|-0.9178	5|9	.|0.51188	.|T	.|0.08	.|.	3.2333|3.2333	0.06756|0.06756	0.195:0.5389:0.0:0.2661|0.195:0.5389:0.0:0.2661	.|.	.|1825;1931	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	S|I	88|1825;1931;1931;2016;2067	.|ENSP00000327209:S1825I;ENSP00000358360:S1931I;ENSP00000358363:S1931I;ENSP00000435654:S2016I;ENSP00000358366:S2067I	.|ENSP00000327209:S1825I	A|S	-|-	1|2	0|0	0|0	PDE4DIP|PDE4DIP	143575660|143575660	143575660|143575660	0.766000|0.766000	0.28496|0.28496	0.468000|0.468000	0.27192|0.27192	0.453000|0.453000	0.32348|0.32348	1.302000|1.302000	0.33459|0.33459	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GCC|AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-17.322230	1	0.170000	NM_022359			65	64		665	652	0		1	0		0	0	124	0		1	4.596217e-01	0	0	0	17	0	65	665
PDE4DIP	9659	broad.mit.edu	37	1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000369354.3	-	27	4520	c.4331G>T	c.(4330-4332)aGa>aTa	p.R1444I	AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1444					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)			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)		CTGGGATACTCTCTGGATGAG	0.562			T	PDGFRB	MPD																																	ENST00000369354.3	0.740000	0.370000	6.400000e-01	4.500000e-01	0.540000	0.551783	0.540000	0.540000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(4330-4332)aGa>aTa		phosphodiesterase 4D interacting protein							104.0	114.0	111.0					1																	144879119		2203	4300	6503	SO:0001583	missense	9659	0	0					g.chr1:144879119C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4331G>T	chr1.hg19:g.144879119C>A	ENSP00000358360:p.Arg1444Ile	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|AL138796.1_ENST00000582173.1_RNA	p.R1444I			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		27	4520	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.4331G>T	CCDS30824.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.225105	0.95173	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03212	4.01;4.06;4.02;4.05;4.07	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	T	0.12050	0.0293	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00295	-1.1839	9	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	1400;1444	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1400;1444;1444;1580;1580	ENSP00000327209:R1400I;ENSP00000358360:R1444I;ENSP00000358363:R1444I;ENSP00000435654:R1580I;ENSP00000358366:R1580I	ENSP00000327209:R1400I	R	-	2	0	0	PDE4DIP	143590476	143590476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.774000	0.75012	2.765000	0.95021	0.591000	0.81541	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	190		190	190	1	2.060000	-3.919161	1	0.170000	NM_022359			31	31		704	689	0		1	0		0	0	190	0		1	1.376450e-01	0	0	0	15	0	31	704
PDE4DIP	9659	broad.mit.edu	37	1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000369354.3	-	24	3446	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1086					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)			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)		GGTTACCACAGTCTCAACCAT	0.502			T	PDGFRB	MPD																																	ENST00000369354.3	0.730000	0.450000	6.600000e-01	5.100000e-01	0.580000	0.590526	0.580000	0.580000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(3256-3258)aCt>aTt		phosphodiesterase 4D interacting protein							304.0	272.0	283.0					1																	144882762		2203	4296	6499	SO:0001583	missense	9659	0	0					g.chr1:144882762G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3257C>T	chr1.hg19:g.144882762G>A	ENSP00000358360:p.Thr1086Ile	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron	p.T1086I			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		24	3446	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.3257C>T	CCDS30824.1	0	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672060	0.47781	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01474	4.86;4.86;4.85;4.86	5.27	3.32	0.38043	5.27	3.32	0.38043	.	.	.	.	.	T	0.01222	0.0040	L	0.51422	1.61	0.18873	N	0.999989	D	0.56521	0.976	P	0.47864	0.559	T	0.53027	-0.8496	9	0.42905	T	0.14	.	5.7399	0.18087	0.0915:0.0:0.5945:0.314	.	1086	Q5VU43	MYOME_HUMAN	I	1086;1086;1223;1223	ENSP00000358360:T1086I;ENSP00000358363:T1086I;ENSP00000435654:T1223I;ENSP00000358366:T1223I	ENSP00000358360:T1086I	T	-	2	0	0	PDE4DIP	143594119	143594119	0.389000	0.25205	0.098000	0.21074	0.858000	0.48976	1.796000	0.38794	2.742000	0.94016	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	335		335	335	1	2.060000	-6.127584	1	0.170000	NM_022359			66	66		1377	1337	0		1	0		0	0	335	0		1	1.686111e-01	0	0	0	16	0	66	1377
PDE4DIP	9659	broad.mit.edu	37	1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T	rs374769269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000369354.3	-	12	1718	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					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.R510H(1)|p.R673H(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)		CACAGCAAGACGAAGCTGGCG	0.448			T	PDGFRB	MPD																																	ENST00000369354.3	0.720000	0.450000	6.600000e-01	5.100000e-01	0.580000	0.591229	0.580000	0.580000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		2	Substitution - Missense(2)	p.R510H(1)|p.R673H(1)	prostate(2)	176						c.(1528-1530)cGt>cAt		phosphodiesterase 4D interacting protein		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	271.0	261.0	264.0		1529,1529,1727,1529,2018	-0.3	0.0	1		264	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1	29,29,29,29,29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	510/2347,510/2363,576/2241,510/970,673/1133	144917575	2,12996	2203	4296	6499	SO:0001583	missense	9659	14	121412	43				g.chr1:144917575C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1529G>A	chr1.hg19:g.144917575C>T	ENSP00000358360:p.Arg510His	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H	p.R510H			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		12	1718	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.1529G>A	CCDS30824.1	0	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026704	0.19512	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12774	4.66;4.73;4.73;4.75;4.74;3.74;3.74;2.66;2.66;2.65	6.04	-0.323	0.12709	6.04	-0.323	0.12709	.	.	.	.	.	T	0.02156	0.0067	N	0.16307	0.4	0.20764	N	0.999859	B;B;B;B;B;B	0.27192	0.018;0.009;0.0;0.022;0.171;0.006	B;B;B;B;B;B	0.17098	0.01;0.012;0.0;0.009;0.017;0.001	T	0.45041	-0.9288	9	0.25751	T	0.34	.	9.7616	0.40534	0.0:0.4482:0.0:0.5518	.	673;297;510;673;576;510	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	576;510;510;673;647;647;510;510;673;673;297	ENSP00000327209:R576H;ENSP00000358360:R510H;ENSP00000358363:R510H;ENSP00000435654:R647H;ENSP00000358366:R647H;ENSP00000358357:R510H;ENSP00000358355:R510H;ENSP00000316434:R673H;ENSP00000433392:R673H;ENSP00000436791:R297H	ENSP00000327209:R576H	R	-	2	0	0	PDE4DIP	143628932	143628932	0.235000	0.23794	0.012000	0.15200	0.775000	0.43874	0.522000	0.22909	-0.060000	0.13132	-0.312000	0.09012	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	341		341	340	1	2.060000	-6.634337	1	0.170000	NM_022359			74	72		1540	1506	0		1	0		0	0	341	0		1	9.969699e-01	0	0	0	177	0	74	1540
PDE4DIP	9659	broad.mit.edu	37	1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000369354.3	-	5	809	c.620C>T	c.(619-621)aCt>aTt	p.T207I	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	207					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)			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)		TTCCATGCTAGTTGGCTCCTC	0.443			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996420	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(619-621)aCt>aTt		phosphodiesterase 4D interacting protein							134.0	117.0	122.0					1																	144946641		2203	4300	6503	SO:0001583	missense	9659	0	0					g.chr1:144946641G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.620C>T	chr1.hg19:g.144946641G>A	ENSP00000358360:p.Thr207Ile	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I	p.T207I			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		5	809	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.620C>T	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208727	0.06140	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03717	4.75;4.84;4.84;4.85;4.84;3.83;3.84	5.16	-2.16	0.07080	5.16	-2.16	0.07080	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28258	0.009;0.205;0.032	B;B;B	0.30401	0.007;0.115;0.013	T	0.47636	-0.9102	9	0.33940	T	0.23	.	0.9982	0.01472	0.171:0.2796:0.2715:0.2778	.	207;273;207	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	273;207;207;344;344;207;207;273	ENSP00000327209:T273I;ENSP00000358360:T207I;ENSP00000358363:T207I;ENSP00000435654:T344I;ENSP00000358366:T344I;ENSP00000358357:T207I;ENSP00000358355:T207I	ENSP00000327209:T273I	T	-	2	0	0	PDE4DIP	143657998	143657998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.162000	0.10964	-0.857000	0.03018	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_022359			34	34		296	291	1		1	0		0	0	62	0		1	7.039068e-01	0	0	0	23	0	34	296
PDE4DIP	9659	broad.mit.edu	37	1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000369354.3	-	5	751	c.562C>A	c.(562-564)Ctt>Att	p.L188I	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	188					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)			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)		TGTTCTACAAGCCTCTCCTGG	0.433			T	PDGFRB	MPD																																	ENST00000369354.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(562-564)Ctt>Att		phosphodiesterase 4D interacting protein							138.0	125.0	129.0					1																	144946699		2203	4300	6503	SO:0001583	missense	9659	0	0					g.chr1:144946699G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.562C>A	chr1.hg19:g.144946699G>T	ENSP00000358360:p.Leu188Ile	1					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I	p.L188I			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		5	751	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	1	1	hg19	c.562C>A	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488927	0.64074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.04917	4.38;4.5;4.51;4.5;4.5;3.53;3.54	5.16	3.15	0.36227	5.16	3.15	0.36227	.	.	.	.	.	T	0.10508	0.0257	M	0.65975	2.015	0.80722	D	1	B;D;D	0.76494	0.002;0.993;0.999	B;P;D	0.63957	0.011;0.86;0.92	T	0.01205	-1.1419	9	0.66056	D	0.02	.	10.3884	0.44154	0.0:0.0:0.6156:0.3844	.	188;254;188	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	254;188;188;325;325;188;188;254	ENSP00000327209:L254I;ENSP00000358360:L188I;ENSP00000358363:L188I;ENSP00000435654:L325I;ENSP00000358366:L325I;ENSP00000358357:L188I;ENSP00000358355:L188I	ENSP00000327209:L254I	L	-	1	0	0	PDE4DIP	143658056	143658056	0.998000	0.40836	0.925000	0.36789	0.734000	0.41952	1.902000	0.39848	0.636000	0.30508	0.655000	0.94253	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0		2	2	2	0		0	0	105		105	101	1	2.060000	-20.000000	1	0.170000	NM_022359			63	63		427	411	1		1	0		0	0	105	0		1	9.270086e-01	0	0	0	32	0	63	427
PDE4DIP	9659	broad.mit.edu	37	1	144994627	144994627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000369354.3	-	1	294	c.105G>A	c.(103-105)caG>caA	p.Q35Q	PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369359.4_Silent_p.Q172Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	35					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)			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)		CCTCATACTTCTGTTGCATGC	0.597			T	PDGFRB	MPD																																	ENST00000369354.3	0.810000	0.470000	7.200000e-01	5.400000e-01	0.630000	0.639947	0.630000	0.630000				Dom	yes			Dom	yes		1	1q12	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)				L	L	PDGFRB		MPD		0				176						c.(103-105)caG>caA		phosphodiesterase 4D interacting protein							148.0	133.0	138.0					1																	144994627		2203	4300	6503	SO:0001819	synonymous_variant	9659	0	0					g.chr1:144994627C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.105G>A	chr1.hg19:g.144994627C>T		1					PDE4DIP_ENST00000369359.4_Silent_p.Q172Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q	p.Q35Q			1	2	3	2.178528	Q5VU43	MYOME_HUMAN		1	294	-			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	1	1	hg19	c.105G>A	CCDS30824.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1		2	2	2	0		0	0	180		180	180	1	2.060000	-6.418249	1	0.170000	NM_022359			50	50		962	945	0		1	0		0	0	180	0		1	9.702610e-01	0	0	0	109	0	50	962
SEC22B	9554	broad.mit.edu	37	1	145103941	145103941	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145103941G>A	ENST00000453618.1	+	0	436							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)											TCAGAGTCAGGCTAAGTAACT	0.403																																						ENST00000453618.1	1.000000	0.360000	1	5.700000e-01	0.850000	0.810616	0.850000	1.000000																										0												SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							84.0	77.0	79.0					1																	145103941		1938	4146	6084			9554	0	0					g.chr1:145103941G>A	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		chr1.hg19:g.145103941G>A		1									1	2	3	2.178528	O75396	SC22B_HUMAN		0	436	+			A8K1G0	RNA	SNP	ENST00000453618.1	0	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-4.833324	1	0.170000	NM_004892			6	6		88	87	0		1	1		0	0	29	0		9.654684e-01	9.998399e-01	0	88	0	239	0	6	88
HFE2	148738	broad.mit.edu	37	1	145415658	145415658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	159					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)			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)					GGCTGCATGGTCGTCCCCCGG	0.687																																						ENST00000336751.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(475-477)ggT>ggC		hemochromatosis type 2 (juvenile)							45.0	43.0	44.0					1																	145415658		2203	4300	6503	SO:0001819	synonymous_variant	148738	0	0					g.chr1:145415658T>C	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.477T>C	chr1.hg19:g.145415658T>C		1					HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron	p.G159G	NM_213653.3	NP_998818.1	1	2	3	2.178528	Q6ZVN8	RGMC_HUMAN		3	715	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Silent	SNP	ENST00000336751.5	1	1	hg19	c.477T>C	CCDS910.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_145277			83	82		252	248	1		1			0	0	52	0		1	0	0	0	0	0	0	83	252
HFE2	148738	broad.mit.edu	37	1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	401					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)			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)					CCCTCAGATGCTGGGGTTCCT	0.542																																						ENST00000336751.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1201-1203)gCt>gTt		hemochromatosis type 2 (juvenile)							115.0	99.0	104.0					1																	145416857		2203	4300	6503	SO:0001583	missense	148738	0	0					g.chr1:145416857C>T	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.1202C>T	chr1.hg19:g.145416857C>T	ENSP00000337014:p.Ala401Val	1					HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V	p.A401V	NM_213653.3	NP_998818.1	1	2	3	2.178528	Q6ZVN8	RGMC_HUMAN		4	1440	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	1	1	hg19	c.1202C>T	CCDS910.1	1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806749	0.31961	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;T;T	0.93547	-2.84;-3.24;-1.33;-1.33	5.44	3.55	0.40652	5.44	3.55	0.40652	Repulsive guidance molecule, C-terminal (1);	0.615570	0.16395	N	0.216261	T	0.81351	0.4804	L	0.43152	1.355	0.32942	D	0.51858	B	0.11235	0.004	B	0.19391	0.025	T	0.65894	-0.6057	10	0.14656	T	0.56	-4.8878	10.1462	0.42764	0.0:0.8363:0.0:0.1637	.	401	Q6ZVN8	RGMC_HUMAN	V	288;401;175;175	ENSP00000350495:A288V;ENSP00000337014:A401V;ENSP00000421820:A175V;ENSP00000425716:A175V	ENSP00000337014:A401V	A	+	2	0	0	HFE2	144128214	144128214	0.781000	0.28676	0.287000	0.24848	0.116000	0.19942	0.827000	0.27421	0.840000	0.34995	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_145277			88	85		397	390	1		1			0	0	76	0		1	0	0	0	0	0	0	88	397
TXNIP	10628	broad.mit.edu	37	1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	24					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACGGCAGTGGCGAGAAGGTG	0.488																																						ENST00000369317.4	0.620000	0.200000	5.000000e-01	2.800000e-01	0.380000	0.400542	0.380000	0.370000																										0				21						c.(70-72)gGc>gAc		thioredoxin interacting protein							124.0	114.0	117.0					1																	145438873		2203	4300	6503	SO:0001583	missense	10628	0	0					g.chr1:145438873G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.71G>A	chr1.hg19:g.145438873G>A	ENSP00000358323:p.Gly24Asp	1					TXNIP_ENST00000475171.1_Intron	p.G24D	NM_006472.3	NP_006463.3	1	2	3	2.178528	Q9H3M7	TXNIP_HUMAN		1	405	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	1	1	hg19	c.71G>A	CCDS913.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.597236	0.96602	.	.	ENSG00000117289	ENST00000369317	T	0.23348	1.91	5.64	5.64	0.86602	5.64	5.64	0.86602	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.053612	0.85682	D	0.000000	T	0.52741	0.1753	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61068	-0.7137	10	0.87932	D	0	-0.422	17.1852	0.86865	0.0:0.0:1.0:0.0	.	24	Q9H3M7	TXNIP_HUMAN	D	24	ENSP00000358323:G24D	ENSP00000358323:G24D	G	+	2	0	0	TXNIP	144150230	144150230	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.980000	0.93460	2.665000	0.90641	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	0	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-3.657152	1	0.170000	NM_006472			12	12		397	388	0		1	1		0	0	73	0		9.990208e-01	1	0	135	0	4325	0	12	397
ANKRD34A	284615	broad.mit.edu	37	1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	252	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642																																						ENST00000323397.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(754-756)Cta>Ata		ankyrin repeat domain 34A							53.0	63.0	60.0					1																	145474082		2203	4300	6503	SO:0001583	missense	284615	0	0					g.chr1:145474082C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.754C>A	chr1.hg19:g.145474082C>A	ENSP00000314103:p.Leu252Ile	1					RP11-315I20.1_ENST00000600340.1_RNA	p.L252I	NM_001039888.2	NP_001034977.1	1	2	3	2.178528	Q69YU3	AN34A_HUMAN		4	2047	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	1	1	hg19	c.754C>A	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834704	0.32421	.	.	ENSG00000181039	ENST00000323397	T	0.76448	-1.02	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000016	T	0.77765	0.4179	L	0.49126	1.545	0.31274	N	0.691455	D	0.57571	0.98	D	0.73708	0.981	T	0.76192	-0.3049	10	0.59425	D	0.04	-7.7467	9.2101	0.37313	0.0:0.9037:0.0:0.0963	.	252	Q69YU3	AN34A_HUMAN	I	252	ENSP00000314103:L252I	ENSP00000314103:L252I	L	+	1	2	2	ANKRD34A	144185439	144185439	0.977000	0.34250	1.000000	0.80357	0.956000	0.61745	2.368000	0.44222	2.585000	0.87301	0.574000	0.79327	CTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1	1	0	1		2	2	2	0		0	0	201		201	192	1	2.060000	-20.000000	1	0.170000				121	121		702	676	1		1	1		0	0	201	0		1	8.988472e-01	0	3	0	22	0	121	702
RBM8A	9939	broad.mit.edu	37	1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453																																						ENST00000330165.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(274-276)aaA>aaC		RNA binding motif protein 8A							106.0	100.0	102.0					1																	145508545		2203	4300	6503	SO:0001583	missense	9939	0	0					g.chr1:145508545A>C	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.276A>C	chr1.hg19:g.145508545A>C	ENSP00000333001:p.Lys92Asn	1					RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA	p.K92N	NM_005105.3	NP_005096.1	1	2	3	2.178528	Q9Y5S9	RBM8A_HUMAN		4	345	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	1	1	hg19	c.276A>C	CCDS916.1	1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720441	0.48728	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.15952	2.38;2.38	4.32	1.93	0.25924	4.32	1.93	0.25924	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055524	0.64402	D	0.000001	T	0.05456	0.0144	L	0.40543	1.245	0.58432	D	0.999998	B;B	0.28760	0.185;0.221	B;B	0.32762	0.094;0.152	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.5494	5.7489	0.18136	0.7769:0.0:0.2231:0.0	.	91;92	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	N	92;91	ENSP00000333001:K92N;ENSP00000358313:K91N	ENSP00000333001:K92N	K	+	3	2	2	RBM8A	144219902	144219902	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.661000	0.25023	0.217000	0.20800	0.459000	0.35465	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_005105			129	124		328	318	1		1	1		0	0	75	0		1	1	0	313	0	522	0	129	328
ITGA10	8515	broad.mit.edu	37	1	145536894	145536894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000538811.1_Silent_p.T627T|ITGA10_ENST00000539363.1_Silent_p.T615T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	758					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)			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)					TGACTGTGACCTTTGCCTTGG	0.507																																						ENST00000369304.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2272-2274)acC>acT		integrin, alpha 10							197.0	177.0	184.0					1																	145536894		2203	4300	6503	SO:0001819	synonymous_variant	8515	0	0					g.chr1:145536894C>T	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.2274C>T	chr1.hg19:g.145536894C>T		1					ITGA10_ENST00000538811.1_Silent_p.T627T|ITGA10_ENST00000539363.1_Silent_p.T615T	p.T758T	NM_003637.3	NP_003628.2	1	2	3	2.178528	O75578	ITA10_HUMAN		18	2449	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	1	1	hg19	c.2274C>T	CCDS918.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	1	0	1		2	2	2	0		0	0	174		174	172	1	2.060000	-20.000000	1	0.170000	NM_003637			242	237		733	717	1		1	0		0	0	174	0		1	6.953570e-01	0	1	0	8	0	242	733
ANKRD35	148741	broad.mit.edu	37	1	145561096	145561096	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	262										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)					TCCAACATAGGCCTCTCCATC	0.527																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(784-786)Gcc>Acc		ankyrin repeat domain 35							34.0	40.0	38.0					1																	145561096		2203	4300	6503	SO:0001630	splice_region_variant	148741	0	0					g.chr1:145561096G>A	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.784-1G>A	chr1.hg19:g.145561096G>A		1					ANKRD35_ENST00000544626.1_3'UTR	p.A262T	NM_144698.3	NP_653299.4	1	2	3	2.178528	Q8N283	ANR35_HUMAN		10	871	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Splice_Site	SNP	ENST00000355594.4	1	0	hg19	c.784G>A	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986217	0.35036	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.65916	-0.18	5.77	3.91	0.45181	5.77	3.91	0.45181	.	0.239499	0.29602	N	0.011683	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.08086	-1.0739	9	.	.	.	-0.742	8.9586	0.35834	0.1698:0.0:0.8302:0.0	.	262	Q8N283	ANR35_HUMAN	T	171;262	ENSP00000347802:A262T	.	A	+	1	0	0	ANKRD35	144272453	144272453	1.000000	0.71417	0.986000	0.45419	0.137000	0.21094	1.100000	0.31025	0.908000	0.36671	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_144698	Missense_Mutation		40	40		131	127	1		1	0		0	0	33	0		1	0	0	0	0	1	0	40	131
PIAS3	10401	broad.mit.edu	37	1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	477					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488																																						ENST00000393045.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1429-1431)Gcc>Acc		protein inhibitor of activated STAT, 3							89.0	94.0	93.0					1																	145584278		2203	4300	6503	SO:0001583	missense	10401	1	121412	30				g.chr1:145584278G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1429G>A	chr1.hg19:g.145584278G>A	ENSP00000376765:p.Ala477Thr	1					PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	p.A477T	NM_006099.3	NP_006090.2	1	2	3	2.178528	Q9Y6X2	PIAS3_HUMAN		11	1519	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	1	1	hg19	c.1429G>A	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816415	0.16607	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30448	1.53;1.53	5.64	3.8	0.43715	5.64	3.8	0.43715	.	0.197182	0.35151	N	0.003403	T	0.06554	0.0168	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18967	-1.0320	10	0.08381	T	0.77	-8.8419	5.2502	0.15517	0.1643:0.0:0.6728:0.1629	.	477	Q9Y6X2	PIAS3_HUMAN	T	477;442	ENSP00000376765:A477T;ENSP00000358304:A442T	ENSP00000358304:A442T	A	+	1	0	0	PIAS3	144295635	144295635	0.629000	0.27146	0.579000	0.28588	0.835000	0.47333	1.000000	0.29770	0.954000	0.37851	-0.142000	0.14014	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000	NM_006099			137	135		507	495	1		1	1		0	0	154	0		1	1	0	75	0	160	0	137	507
ATAD3A	55210	broad.mit.edu	37	1	1455928	1455928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000536055.1_Splice_Site_p.R148R|ATAD3A_ENST00000378756.3_Splice_Site_p.R227R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	275					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587																																						ENST00000378755.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.989677	0.980000	0.990000																										0				20						c.(823-825)agG>agA		ATPase family, AAA domain containing 3A							111.0	94.0	100.0					1																	1455928		2203	4298	6501	SO:0001630	splice_region_variant	55210	0	0					g.chr1:1455928G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.825-1G>A	chr1.hg19:g.1455928G>A		1					ATAD3A_ENST00000378756.3_Splice_Site_p.R227R|ATAD3A_ENST00000536055.1_Splice_Site_p.R148R	p.R275R	NM_018188.3	NP_060658.3	0	1	1	1.838767	Q9NVI7	ATD3A_HUMAN		7	919	+	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;9.48e-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)|Lung SC(97;0.217)	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Splice_Site	SNP	ENST00000378755.5	1	0	hg19	c.825G>A	CCDS31.1	1	.	.	.	.	.	.	.	.	.	.	-	9.381	1.073035	0.20147	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.42	4.42	0.53409	4.42	4.42	0.53409	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71702	-0.4513	4	.	.	.	.	16.3539	0.83228	0.0:0.0:1.0:0.0	.	.	.	.	N	213	.	.	D	+	1	0	0	ATAD3A	1445791	1445791	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.720000	0.84759	2.185000	0.69588	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	1		2	2	2	0		0	0	97		97	100	1	2.060000	-20.000000	1	0.170000	NM_018188	Silent		102	98		321	305	0		1	0		0	0	97	0		1	7.350528e-01	0	0	0	10	0	102	321
NUDT17	200035	broad.mit.edu	37	1	145587350	145587350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	244							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522																																						ENST00000334513.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(730-732)Ctt>Ttt		nudix (nucleoside diphosphate linked moiety X)-type motif 17							66.0	66.0	66.0					1																	145587350		2203	4300	6503	SO:0001630	splice_region_variant	200035	0	0					g.chr1:145587350G>A	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.731+1C>T	chr1.hg19:g.145587350G>A		1					NUDT17_ENST00000444015.2_5'Flank	p.L244F	NM_001012758.2	NP_001012776.1	1	2	3	2.178528	P0C025	NUD17_HUMAN		6	741	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)			Splice_Site	SNP	ENST00000334513.5	1	0	hg19	c.730C>T	CCDS30830.1	1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.84	0.521	0.17046	4.84	0.521	0.17046	.	1.078730	0.07151	N	0.849176	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.32798	-0.9893	9	0.23302	T	0.38	9.6337	2.9457	0.05845	0.091:0.149:0.3038:0.4563	.	244	P0C025	NUD17_HUMAN	F	244	.	ENSP00000334437:L244F	L	-	1	0	0	NUDT17	144298707	144298707	0.002000	0.14202	0.019000	0.16419	0.939000	0.58152	0.317000	0.19487	-0.057000	0.13199	0.655000	0.94253	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	XM_496395	Missense_Mutation		82	82		216	214	1		1	1		0	0	55	0		1	9.562587e-01	0	2	0	14	0	82	216
RNF115	27246	broad.mit.edu	37	1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458																																						ENST00000369291.5	1.000000	0.700000	1	8.400000e-01	0.990000	0.942288	0.990000	1.000000																										0				13						c.(373-375)cGg>cAg		ring finger protein 115		G	GLN/ARG	0,4406		0,0,2203	99.0	93.0	95.0		374	2.1	0.9	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	RNF115	NM_014455.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	125/305	145663313	2,13004	2203	4300	6503	SO:0001583	missense	27246	2	121412	39				g.chr1:145663313G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.374G>A	chr1.hg19:g.145663313G>A	ENSP00000358297:p.Arg125Gln	1						p.R125Q	NM_014455.2	NP_055270.1	1	2	3	2.178528				4	578	+				Missense_Mutation	SNP	ENST00000369291.5	1	1	hg19	c.374G>A	CCDS922.1	1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298000	0.23650	0.0	2.33E-4	ENSG00000121848	ENST00000369291	T	0.12361	2.69	5.14	2.14	0.27477	5.14	2.14	0.27477	.	0.120515	0.53938	N	0.000056	T	0.01940	0.0061	N	0.08118	0	0.34876	D	0.744124	B	0.10296	0.003	B	0.04013	0.001	T	0.44559	-0.9320	10	0.27082	T	0.32	-4.4071	8.2455	0.31686	0.2735:0.0:0.7265:0.0	.	125	Q9Y4L5	RN115_HUMAN	Q	125	ENSP00000358297:R125Q	ENSP00000358297:R125Q	R	+	2	0	0	RNF115	144374670	144374670	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	2.408000	0.44574	0.288000	0.22398	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.017763	1	0.170000	NM_014455			33	33		388	380	0		1	1		0	0	77	0		1	9.997050e-01	0	6	0	140	0	33	388
CD160	11126	broad.mit.edu	37	1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000369288.2	-	4	359	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000235933.6_Missense_Mutation_p.H48Y	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	48	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)			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)			TCTTTCTTATGCCATACAGTA	0.448																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369288.2	1.000000	0.600000	1	7.400000e-01	0.920000	0.891625	0.920000	1.000000																										0				7						c.(142-144)Cat>Tat		CD160 molecule							97.0	93.0	94.0					1																	145704275		2203	4300	6503	SO:0001583	missense	11126	0	0					g.chr1:145704275G>A	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.142C>T	chr1.hg19:g.145704275G>A	ENSP00000358294:p.His48Tyr	1					CD160_ENST00000235933.6_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y	p.H48Y	NM_007053.2	NP_008984.1	1	2	3	2.178528	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)	4	359	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)			Missense_Mutation	SNP	ENST00000369288.2	1	1	hg19	c.142C>T	CCDS923.1	1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489403	0.04352	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03242	4.0;4.0;4.0	4.34	-1.06	0.10002	4.34	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.702414	0.12343	N	0.477329	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44097	-0.9350	10	0.19147	T	0.46	1.5738	7.9615	0.30074	0.4802:0.0:0.5198:0.0	.	48	O95971	BY55_HUMAN	Y	48	ENSP00000235933:H48Y;ENSP00000358294:H48Y;ENSP00000385199:H48Y	ENSP00000235933:H48Y	H	-	1	0	0	CD160	144415632	144415632	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.458000	0.06737	-0.109000	0.12044	-0.251000	0.11542	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-7.484844	1	0.170000	NM_007053			22	22		284	275	0		1	0		0	0	56	0		9.999985e-01	0	0	0	0	1	0	22	284
ATAD3A	55210	broad.mit.edu	37	1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	362					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711																																						ENST00000378755.5	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.948519	0.950000	0.990000																										0				20						c.(1084-1086)Gcg>Acg		ATPase family, AAA domain containing 3A							51.0	50.0	50.0					1																	1458924		2203	4300	6503	SO:0001583	missense	55210	1	121216	30				g.chr1:1458924G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1084G>A	chr1.hg19:g.1458924G>A	ENSP00000368030:p.Ala362Thr	1					ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T|ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T	p.A362T	NM_018188.3	NP_060658.3	0	1	1	1.838767	Q9NVI7	ATD3A_HUMAN		9	1178	+	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;9.48e-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)|Lung SC(97;0.217)	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	1	1	hg19	c.1084G>A	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.99|11.99	1.803877|1.803877	0.31869|0.31869	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94497|.	-3.22;-3.08;-3.44|.	4.8|4.8	3.89|3.89	0.44902|0.44902	4.8|4.8	3.89|3.89	0.44902|0.44902	.|.	0.111693|.	0.64402|.	D|.	0.000011|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.85299|0.85299	2.745|2.745	0.50813|0.50813	D|D	0.999893|0.999893	P;D|.	0.59357|.	0.786;0.985|.	B;P|.	0.46253|.	0.382;0.509|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|5	0.49607|.	T|.	0.09|.	.|.	12.0841|12.0841	0.53688|0.53688	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	314;362|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|H	314;362;235|299	ENSP00000368031:A314T;ENSP00000368030:A362T;ENSP00000439290:A235T|.	ENSP00000368030:A362T|.	A|R	+|+	1|2	0|0	0|0	ATAD3A|ATAD3A	1448787|1448787	1448787|1448787	1.000000|1.000000	0.71417|0.71417	0.724000|0.724000	0.30704|0.30704	0.023000|0.023000	0.10783|0.10783	5.587000|5.587000	0.67510|0.67510	1.025000|1.025000	0.39708|0.39708	0.556000|0.556000	0.70494|0.70494	GCG|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.711	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_018188			29	28		137	135	1		1	1		0	0	24	0		1	9.982156e-01	0	17	0	33	0	29	137
ATAD3A	55210	broad.mit.edu	37	1	1459323	1459323	+	Silent	SNP	C	C	T	rs113640550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1459323C>T	ENST00000378755.5	+	10	1306	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	ATAD3A_ENST00000536055.1_Silent_p.T277T|ATAD3A_ENST00000378756.3_Silent_p.T356T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	404					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CACCAGGCACCGGGAAGACGC	0.637													c|||	38	0.00758786	0.028	0.0014	5008	,	,		19817	0.0		0.0	False		,,,				2504	0.0					ENST00000378755.5	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.903665	0.910000	0.990000																										0				20						c.(1210-1212)acC>acT		ATPase family, AAA domain containing 3A		C	,,	113,4293	85.3+/-124.0	2,109,2092	92.0	86.0	88.0		1068,831,1212	-9.4	0.1	1	dbSNP_132	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	,,	2,109,6392	TT,TC,CC		0.0,2.5647,0.8688	,,	356/587,277/508,404/635	1459323	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	55210	286	121406	57				g.chr1:1459323C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1212C>T	chr1.hg19:g.1459323C>T		1					ATAD3A_ENST00000378756.3_Silent_p.T356T|ATAD3A_ENST00000536055.1_Silent_p.T277T	p.T404T	NM_018188.3	NP_060658.3	0	1	1	1.838767	Q9NVI7	ATD3A_HUMAN		10	1306	+	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;9.48e-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)|Lung SC(97;0.217)	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	1	0	hg19	c.1212C>T	CCDS31.1	1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	c	0.340	-0.951160	0.02285	0.025647	0.0	ENSG00000197785	ENST00000339113	.	.	.	4.7	-9.41	0.00613	4.7	-9.41	0.00613	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41698	-0.9494	4	.	.	.	.	4.3205	0.11015	0.0748:0.3435:0.2407:0.341	.	.	.	.	W	342	.	.	R	+	1	2	2	ATAD3A	1449186	1449186	0.000000	0.05858	0.063000	0.19743	0.076000	0.17211	-2.358000	0.01085	-2.405000	0.00575	-0.300000	0.09419	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	1		2	2	2	0		0	0	82		82	86	1	2.060000	-2.690405	1	0.170000	NM_018188			42	41		389	382	1		1	1		0	0	82	0		1	9.639738e-01	0	12	0	40	0	42	389
PDZK1	5174	broad.mit.edu	37	1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	146	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	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)			GGCAGCTATGGCTTCTCTCTG	0.522																																						ENST00000344770.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(436-438)gGc>gAc		PDZ domain containing 1							66.0	71.0	70.0					1																	145748564		2203	4300	6503	SO:0001583	missense	5174	0	0					g.chr1:145748564G>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.437G>A	chr1.hg19:g.145748564G>A	ENSP00000342143:p.Gly146Asp	1					PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	p.G146D	NM_002614.4	NP_002605.2	1	2	3	2.178528	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)	3	510	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	1	1	hg19	c.437G>A	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657044	0.67586	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;D;T	0.85339	-1.11;-1.11;-1.97;-1.11	5.84	4.93	0.64822	5.84	4.93	0.64822	PDZ/DHR/GLGF (4);	0.096016	0.64402	D	0.000001	D	0.92747	0.7694	M	0.93978	3.48	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.94354	0.7582	10	0.87932	D	0	-0.2061	12.6429	0.56718	0.0798:0.0:0.9202:0.0	.	146;146	E7EU02;Q5T2W1	.;NHRF3_HUMAN	D	146	ENSP00000409291:G146D;ENSP00000394485:G146D;ENSP00000403422:G146D;ENSP00000342143:G146D	ENSP00000342143:G146D	G	+	2	0	0	PDZK1	144459921	144459921	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.210000	0.72176	1.485000	0.48380	-0.218000	0.12543	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_002614			87	86		355	344	1		1	1		0	0	76	0		1	9.890410e-01	0	12	0	19	0	87	355
PRKAB2	5565	broad.mit.edu	37	1	146631222	146631222	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit						carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438																																						ENST00000254101.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				11						c.e8-1		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)						145.0	125.0	132.0					1																	146631222		2203	4300	6503	SO:0001630	splice_region_variant	5565	0	0					g.chr1:146631222C>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.742-1G>T	chr1.hg19:g.146631222C>A		1					PRKAB2_ENST00000496858.1_Splice_Site|PRKAB2_ENST00000425272.2_Splice_Site		NM_005399.3	NP_005390.1	1	2	3	2.178528	O43741	AAKB2_HUMAN		8	880	-	all_hematologic(923;0.0487)		A8K9V5|B4DH06|Q5VXY0	Splice_Site	SNP	ENST00000254101.3	1	1	hg19		CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027570	0.75390	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1174	0.86692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PRKAB2	145097846	145097846	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.608000	0.67654	2.906000	0.99361	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_005399	Intron		28	27		140	138	1		1	1		0	0	29	0		1	2.056075e-01	0	2	0	3	0	28	140
PRKAB2	5565	broad.mit.edu	37	1	146643671	146643671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	ENST00000254101.3	-	2	191	c.53C>T	c.(52-54)gCt>gTt	p.A18V	RP11-337C18.10_ENST00000606856.1_RNA|PRKAB2_ENST00000425272.2_5'UTR|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.8_ENST00000607149.1_RNA	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	18					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701																																						ENST00000254101.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				11						c.(52-54)gCt>gTt		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)						30.0	25.0	27.0					1																	146643671		2185	4282	6467	SO:0001583	missense	5565	0	0					g.chr1:146643671G>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.53C>T	chr1.hg19:g.146643671G>A	ENSP00000254101:p.Ala18Val	1					RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|PRKAB2_ENST00000425272.2_5'UTR	p.A18V	NM_005399.3	NP_005390.1	1	2	3	2.178528	O43741	AAKB2_HUMAN		2	191	-	all_hematologic(923;0.0487)		A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	0	1	hg19	c.53C>T	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458603	0.63401	.	.	ENSG00000131791	ENST00000254101	.	.	.	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.544208	0.19899	N	0.103548	T	0.27098	0.0664	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.18263	0.021	T	0.08046	-1.0741	9	0.28530	T	0.3	.	14.1452	0.65347	0.0:0.0:1.0:0.0	.	18	O43741	AAKB2_HUMAN	V	18	.	ENSP00000254101:A18V	A	-	2	0	0	PRKAB2	145110295	145110295	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.694000	0.68272	2.179000	0.69175	0.591000	0.81541	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_005399			15	14		47	46	0		1	1		0	0	8	0		9.999228e-01	9.286461e-01	0	6	0	11	0	15	47
FMO5	2330	broad.mit.edu	37	1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	364						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)			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)					TGCAAGAGTTGGCCTTTCCAG	0.453																																						ENST00000254090.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998611	0.990000	1.000000																										0				25						c.(1090-1092)cCa>cTa		flavin containing monooxygenase 5							122.0	120.0	120.0					1																	146672826		2203	4300	6503	SO:0001583	missense	2330	0	0					g.chr1:146672826G>A	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.1091C>T	chr1.hg19:g.146672826G>A	ENSP00000254090:p.Pro364Leu	1					FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron	p.P364L	NM_001461.2	NP_001452.2	1	2	3	2.178528	P49326	FMO5_HUMAN		7	1479	-	all_hematologic(923;0.0487)		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	1	1	hg19	c.1091C>T	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	31	5.073679	0.94000	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60424	0.19;0.19	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.101544	0.64402	D	0.000001	T	0.82001	0.4942	H	0.95079	3.62	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.77004	0.989;0.9	D	0.85815	0.1382	10	0.72032	D	0.01	-13.6878	18.3732	0.90420	0.0:0.0:1.0:0.0	.	364;364	P49326;C9JJD1	FMO5_HUMAN;.	L	364	ENSP00000416011:P364L;ENSP00000254090:P364L	ENSP00000254090:P364L	P	-	2	0	0	FMO5	145139450	145139450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.941000	0.99782	0.655000	0.94253	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-13.766770	1	0.170000	NM_001461			34	34		274	271	1		1	1		0	0	68	0		1	9.822906e-01	0	5	0	49	0	34	274
CHD1L	9557	broad.mit.edu	37	1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Intron	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	171	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)			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)					TGGAGTGTTCTTGTTGTGGAT	0.378																																						ENST00000369258.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(511-513)cTt>cGt		chromodomain helicase DNA binding protein 1-like							202.0	213.0	209.0					1																	146731508		2203	4300	6503	SO:0001583	missense	9557	0	0					g.chr1:146731508T>G	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.512T>G	chr1.hg19:g.146731508T>G	ENSP00000358262:p.Leu171Arg	1					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000369259.3_Intron	p.L171R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	1	2	3	2.178528	Q86WJ1	CHD1L_HUMAN		6	532	+	all_hematologic(923;0.0487)		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	1	1	hg19	c.512T>G	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157255	0.78114	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95001	-3.58;-3.58	4.96	4.96	0.65561	4.96	4.96	0.65561	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98374	1.0555	10	0.87932	D	0	.	11.3378	0.49513	0.0:0.0:0.0:1.0	.	171;171	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	R	171;171;71;132	ENSP00000389031:L171R;ENSP00000358262:L171R	ENSP00000254086:L132R	L	+	2	0	0	CHD1L	145198132	145198132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	1.993000	0.58246	0.528000	0.53228	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	1	0	1		2	2	2	0		0	0	213		213	211	1	2.060000	-20.000000	1	0.170000	NM_004284			188	184		1025	1005	1		1	1		0	0	213	0		1	9.999769e-01	0	25	0	57	0	188	1025
CHD1L	9557	broad.mit.edu	37	1	146766148	146766148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146766148C>T	ENST00000369258.4	+	22	2584	c.2564C>T	c.(2563-2565)aCt>aTt	p.T855I	CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I	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	855	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)			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)					TGGTATGGTACTGAGCGACTT	0.418																																						ENST00000369258.4	0.310000	0.090000	2.500000e-01	1.300000e-01	0.180000	0.199617	0.180000	0.180000																										0				33						c.(2563-2565)aCt>aTt		chromodomain helicase DNA binding protein 1-like							277.0	240.0	253.0					1																	146766148		2203	4300	6503	SO:0001583	missense	9557	0	0					g.chr1:146766148C>T	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.2564C>T	chr1.hg19:g.146766148C>T	ENSP00000358262:p.Thr855Ile	1					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I	p.T855I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	1	2	3	2.178528	Q86WJ1	CHD1L_HUMAN		22	2584	+	all_hematologic(923;0.0487)		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	0	1	hg19	c.2564C>T	CCDS927.1	0	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593805	0.66219	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.7	5.7	0.88788	5.7	5.7	0.88788	Appr-1-p processing (1);	0.050779	0.85682	D	0.000000	T	0.36880	0.0983	N	0.13352	0.335	0.80722	D	1	P;D;P	0.89917	0.89;1.0;0.915	P;D;B	0.91635	0.692;0.999;0.411	T	0.26538	-1.0100	10	0.33141	T	0.24	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	761;651;855	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	I	761;651;855;574	ENSP00000389031:T761I;ENSP00000358263:T651I;ENSP00000358262:T855I;ENSP00000355100:T574I	ENSP00000355100:T574I	T	+	2	0	0	CHD1L	145232772	145232772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.695000	0.74593	2.696000	0.92011	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	0	0	0		2	2	2	0		0	0	179		179	177	1	2.060000	-2.843033	1	0.170000	NM_004284			12	12		814	799	0		1	1		0	0	179	0		9.990105e-01	6.653100e-01	0	2	0	150	0	12	814
BCL9	607	broad.mit.edu	37	1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	rs34002844	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		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)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998894	0.990000	1.000000				Dom	yes			Dom	yes		1	1q21	1q21	607	T	B-cell CLL/lymphoma 9				L	L	IGH@, IGL@		B-ALL		0				7						c.(2344-2346)aGa>aTa		B-cell CLL/lymphoma 9							44.0	45.0	45.0					1																	147092306		2203	4300	6503	SO:0001583	missense	607	0	0					g.chr1:147092306G>T	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.2345G>T	chr1.hg19:g.147092306G>T	ENSP00000234739:p.Arg782Ile	1						p.R782I	NM_004326.2	NP_004317.2	1	2	3	2.178528	O00512	BCL9_HUMAN		8	3085	+	all_hematologic(923;0.115)		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	1	1	hg19	c.2345G>T	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438270	0.25900	.	.	ENSG00000116128	ENST00000234739	T	0.52526	0.66	5.0	4.09	0.47781	5.0	4.09	0.47781	.	0.148378	0.64402	D	0.000013	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999996	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.06679	-1.0813	10	0.51188	T	0.08	-13.7937	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	782;782	Q1JQ81;O00512	.;BCL9_HUMAN	I	782	ENSP00000234739:R782I	ENSP00000234739:R782I	R	+	2	0	0	BCL9	145558930	145558930	1.000000	0.71417	0.686000	0.30086	0.003000	0.03518	6.216000	0.72212	1.351000	0.45789	-0.136000	0.14681	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	1	0	1		2	2	2	0		0	0	43		43	37	1	2.060000	-20.000000	1	0.170000	NM_004326			25	21		182	155	1		1	1		0	0	43	0		9.999992e-01	9.719993e-01	0	8	0	37	0	25	182
GJA5	2702	broad.mit.edu	37	1	147230480	147230480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	289					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.S289S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532																																						ENST00000271348.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S289S(1)	lung(1)	20						c.(865-867)tcC>tcA		gap junction protein, alpha 5, 40kDa							153.0	149.0	150.0					1																	147230480		2203	4300	6503	SO:0001819	synonymous_variant	2702	0	0					g.chr1:147230480G>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.867C>A	chr1.hg19:g.147230480G>T		1					GJA5_ENST00000369237.1_Silent_p.S289S|RP11-433J22.2_ENST00000428911.1_RNA	p.S289S	NM_005266.5	NP_005257.2	1	2	3	2.178528	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)	2	1028	-	all_hematologic(923;0.0276)		Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	1	1	hg19	c.867C>A	CCDS929.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-3.756129	1	0.170000	NM_181703			139	136		504	498	1		1	0		0	0	105	0		1	9.653107e-01	0	1	0	21	0	139	504
GJA8	2703	broad.mit.edu	37	1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000369235.1	+	1	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000240986.4_Missense_Mutation_p.I155T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	155					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)			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)					ATCTGCCACATCATCTTCAAG	0.617																																					Melanoma(76;1255 1795 8195 52096)	ENST00000369235.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(463-465)aTc>aCc		gap junction protein, alpha 8, 50kDa							113.0	113.0	113.0					1																	147380546		2203	4300	6503	SO:0001583	missense	2703	0	0					g.chr1:147380546T>C	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.464T>C	chr1.hg19:g.147380546T>C	ENSP00000358238:p.Ile155Thr	1					GJA8_ENST00000240986.4_Missense_Mutation_p.I155T	p.I155T			1	2	3	2.178528	P48165	CXA8_HUMAN		1	464	+	all_hematologic(923;0.0276)		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	1	1	hg19	c.464T>C	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783079	0.70222	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98192	-4.78;-4.78	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.053149	0.64402	D	0.000001	D	0.98563	0.9520	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.99819	1.1046	10	0.87932	D	0	.	14.7852	0.69796	0.0:0.0:0.0:1.0	.	155	P48165	CXA8_HUMAN	T	155	ENSP00000240986:I155T;ENSP00000358238:I155T	ENSP00000240986:I155T	I	+	2	0	0	GJA8	145847170	145847170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.964000	0.87933	1.885000	0.54596	0.402000	0.26972	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000	NM_005267			157	154		727	716	1		1			0	0	133	0		1	0	0	0	0	0	0	157	727
GJA8	2703	broad.mit.edu	37	1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000369235.1	+	1	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000240986.4_Missense_Mutation_p.A256V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	256					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)			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)					CACTCCATTGCTGTCTCCTCC	0.562																																					Melanoma(76;1255 1795 8195 52096)	ENST00000369235.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(766-768)gCt>gTt		gap junction protein, alpha 8, 50kDa							50.0	52.0	51.0					1																	147380849		2203	4300	6503	SO:0001583	missense	2703	0	0					g.chr1:147380849C>T	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.767C>T	chr1.hg19:g.147380849C>T	ENSP00000358238:p.Ala256Val	1					GJA8_ENST00000240986.4_Missense_Mutation_p.A256V	p.A256V			1	2	3	2.178528	P48165	CXA8_HUMAN		1	767	+	all_hematologic(923;0.0276)		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	1	1	hg19	c.767C>T	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708967	0.48517	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97791	-4.54;-4.54	4.4	4.4	0.53042	4.4	4.4	0.53042	.	4.457000	0.00582	N	0.000325	D	0.95287	0.8471	L	0.32530	0.975	0.54753	D	0.999982	P	0.49783	0.928	P	0.45071	0.468	D	0.86106	0.1559	10	0.31617	T	0.26	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	256	P48165	CXA8_HUMAN	V	256	ENSP00000240986:A256V;ENSP00000358238:A256V	ENSP00000240986:A256V	A	+	2	0	0	GJA8	145847473	145847473	1.000000	0.71417	0.887000	0.34795	0.979000	0.70002	4.672000	0.61597	2.267000	0.75376	0.313000	0.20887	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_005267			66	65		291	284	1		1			0	0	71	0		1	0	0	0	0	0	0	66	291
GJA8	2703	broad.mit.edu	37	1	147381090	147381090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000369235.1	+	1	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000240986.4_Silent_p.P336P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	336					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)			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)					GCGAGGGGCCGCCTGCAGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000369235.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1006-1008)ccG>ccA		gap junction protein, alpha 8, 50kDa							27.0	27.0	27.0					1																	147381090		2202	4299	6501	SO:0001819	synonymous_variant	2703	0	0					g.chr1:147381090G>A	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.1008G>A	chr1.hg19:g.147381090G>A		1					GJA8_ENST00000240986.4_Silent_p.P336P	p.P336P			1	2	3	2.178528	P48165	CXA8_HUMAN		1	1008	+	all_hematologic(923;0.0276)		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	1	1	hg19	c.1008G>A	CCDS30834.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_005267			24	24		80	78	1		1			0	0	12	0		9.999999e-01	0	0	0	0	0	0	24	80
GJA8	2703	broad.mit.edu	37	1	147381177	147381177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	ENST00000369235.1	+	1	1095	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					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.A365A(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)					AGAAGGTGGCCGTGCCAGAGG	0.627																																					Melanoma(76;1255 1795 8195 52096)	ENST00000369235.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.993883	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A365A(1)	pancreas(1)	37						c.(1093-1095)gcC>gcT		gap junction protein, alpha 8, 50kDa							46.0	47.0	46.0					1																	147381177		2200	4294	6494	SO:0001819	synonymous_variant	2703	3	121214	33				g.chr1:147381177C>T	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.1095C>T	chr1.hg19:g.147381177C>T		1					GJA8_ENST00000240986.4_Silent_p.A365A	p.A365A			1	2	3	2.178528	P48165	CXA8_HUMAN		1	1095	+	all_hematologic(923;0.0276)		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	0	1	hg19	c.1095C>T	CCDS30834.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	0		2	2	2	0		0	0	9		9	9	1	2.060000	-19.930870	1	0.170000	NM_005267			13	13		94	90	1		1			0	0	9	0		9.995457e-01	0	0	0	0	0	0	13	94
NBPF14	25832	broad.mit.edu	37	1	148009417	148009417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148009417G>T	ENST00000369219.1	-	16	1906	c.1890C>A	c.(1888-1890)gaC>gaA	p.D630E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	630	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTGGCATGAGTCAGTCAGTT	0.483																																						ENST00000369219.1	0.290000	0.120000	2.500000e-01	1.600000e-01	0.200000	0.207776	0.200000	0.210000																										0				42						c.(1888-1890)gaC>gaA		neuroblastoma breakpoint family, member 14							107.0	217.0	185.0					1																	148009417		1681	4055	5736	SO:0001583	missense	25832	0	0					g.chr1:148009417G>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1890C>A	chr1.hg19:g.148009417G>T	ENSP00000358221:p.Asp630Glu	1						p.D630E			1	2	3	2.178528	Q5TI25	NBPFE_HUMAN		16	1906	-	all_hematologic(923;0.032)		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	0	1	hg19	c.1890C>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.08|10.08	1.253160|1.253160	0.22965|0.22965	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.08102|.	3.13|.	.|.	.|.	.|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.36331|0.36331	0.0963|0.0963	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29852|0.29852	-0.9998|-0.9998	4|2	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	630|.	Q5TI25|.	NBPFE_HUMAN|.	E|N	630;220|636	ENSP00000358221:D630E|.	ENSP00000358221:D630E|.	D|T	-|-	3|2	2|0	2|0	NBPF14|NBPF14	146476041|146476041	146476041|146476041	0.929000|0.929000	0.31497|0.31497	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GAC|ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		9	2	2	1		1	1	402		402	679	1	2.060000	-7.052600	1	0.170000	NM_015383			25	22		1567	1302	0		1	0		1	0	402	0		9.930095e-01	2.207180e-01	0	1	0	53	0	25	1567
FCGR1A	2209	broad.mit.edu	37	1	149759933	149759933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	ENST00000369168.4	+	4	373	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	107	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483																																						ENST00000369168.4	1.000000	0.730000	1	8.600000e-01	0.990000	0.947366	0.990000	1.000000																										0				10						c.(319-321)Ctg>Atg		Fc fragment of IgG, high affinity Ia, receptor (CD64)	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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						85.0	88.0	87.0					1																	149759933		2203	4299	6502	SO:0001583	missense	2209	0	0					g.chr1:149759933C>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.319C>A	chr1.hg19:g.149759933C>A	ENSP00000358165:p.Leu107Met	1					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	p.L107M	NM_000566.3	NP_000557.1	1	2	3	2.190011	P12314	FCGR1_HUMAN		4	373	+	Breast(34;0.0124)|all_hematologic(923;0.127)		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	1	1	hg19	c.319C>A	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827463	0.32329	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.21361	2.01;2.01	4.1	3.18	0.36537	4.1	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.39091	0.1065	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44097	-0.9350	10	0.87932	D	0	.	8.4097	0.32636	0.0:0.8849:0.0:0.1151	.	107	P12314	FCGR1_HUMAN	M	15;107	ENSP00000394279:L15M;ENSP00000358165:L107M	ENSP00000358165:L107M	L	+	1	2	2	FCGR1A	148026557	148026557	0.994000	0.37717	0.851000	0.33527	0.208000	0.24298	3.516000	0.53436	1.015000	0.39444	0.514000	0.50259	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	0	0	1		2	2	2	0		0	0	113		113	146	1	2.060000	-11.331990	1	0.170000	NM_000566			43	41		507	488	0		1	0		0	0	113	0		1	9.950383e-01	0	0	0	97	0	43	507
BOLA1	51027	broad.mit.edu	37	1	149871987	149871987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000369152.5_Silent_p.P125P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	125						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637																																						ENST00000369153.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(373-375)ccA>ccG		bolA family member 1							27.0	33.0	31.0					1																	149871987		2203	4300	6503	SO:0001819	synonymous_variant	51027	0	0					g.chr1:149871987A>G	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.375A>G	chr1.hg19:g.149871987A>G		1					BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.P125P	p.P125P			1	2	3	2.190011	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)	3	1039	+	Breast(34;0.0124)|all_hematologic(923;0.127)		B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	1	1	hg19	c.375A>G	CCDS939.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_016074			72	72		235	230	1		1	1		0	0	79	0		1	1	0	56	0	76	0	72	235
MTMR11	10903	broad.mit.edu	37	1	149906095	149906095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000439741.2	-	7	922	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_ENST00000369140.3_Silent_p.D152D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572																																						ENST00000439741.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(670-672)gaC>gaT		myotubularin related protein 11							101.0	97.0	99.0					1																	149906095		2203	4300	6503	SO:0001819	synonymous_variant	10903	2	121412	34				g.chr1:149906095G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.672C>T	chr1.hg19:g.149906095G>A		1					MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000369140.3_Silent_p.D152D	p.D224D	NM_001145862.1	NP_001139334.1	1	2	3	2.190011	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)	7	922	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	1	1	hg19	c.672C>T	CCDS53360.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-20.000000	1	0.170000	NM_181873			120	117		542	531	1		1	1		0	0	92	0		1	1	0	40	0	90	0	120	542
OTUD7B	56957	broad.mit.edu	37	1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	708					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)			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)			GGGTTCCTGGCAGTGGACTCC	0.662																																						ENST00000369135.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2122-2124)tGc>tAc		OTU deubiquitinase 7B							32.0	36.0	35.0					1																	149916165		1907	4103	6010	SO:0001583	missense	56957	0	0					g.chr1:149916165C>T	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.2123G>A	chr1.hg19:g.149916165C>T	ENSP00000358131:p.Cys708Tyr	1						p.C708Y	NM_020205.2	NP_064590.2	1	2	3	2.190011	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)	12	2417	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	1	1	hg19	c.2123G>A	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.486588	0.01018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.28069	1.63	4.35	2.4	0.29515	4.35	2.4	0.29515	.	0.653611	0.16589	N	0.207856	T	0.03011	0.0089	N	0.03608	-0.345	0.29048	N	0.884704	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	.	.	.	-4.9849	3.2711	0.06882	0.1875:0.5359:0.0:0.2766	.	708	Q6GQQ9	OTU7B_HUMAN	Y	708	ENSP00000358131:C708Y	.	C	-	2	0	0	OTUD7B	148182789	148182789	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.522000	0.35921	0.438000	0.26450	0.450000	0.29827	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_020205			95	93		306	303	1		1	1		0	0	63	0		1	9.999997e-01	0	22	0	50	0	95	306
OTUD7B	56957	broad.mit.edu	37	1	149937711	149937711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149937711C>A	ENST00000369135.4	-	5	889	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	199	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				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)			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)			CCAAGGGAGGCTGCATGCAGG	0.507																																						ENST00000369135.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				39						c.(595-597)Gcc>Tcc		OTU deubiquitinase 7B							50.0	53.0	52.0					1																	149937711		2018	4176	6194	SO:0001583	missense	56957	0	0					g.chr1:149937711C>A	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.595G>T	chr1.hg19:g.149937711C>A	ENSP00000358131:p.Ala199Ser	1					OTUD7B_ENST00000479905.1_5'UTR	p.A199S	NM_020205.2	NP_064590.2	1	2	3	2.190011	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)	5	889	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	1	0	hg19	c.595G>T	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875619	0.91664	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32988	1.43;1.43	5.09	5.09	0.68999	5.09	5.09	0.68999	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.53215	-0.8470	9	.	.	.	-28.019	17.6655	0.88202	0.0:1.0:0.0:0.0	.	199;199	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	S	199	ENSP00000358131:A199S;ENSP00000408231:A199S	.	A	-	1	0	0	OTUD7B	148204335	148204335	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.286000	0.78671	2.653000	0.90120	0.467000	0.42956	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_020205			22	21		114	114	1		1	1		0	0	34	0		9.999993e-01	9.977402e-01	0	14	0	40	0	22	114
OTUD7B	56957	broad.mit.edu	37	1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	125					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)			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)			CCAGGGGGTGCTCATTGCTCC	0.557																																						ENST00000369135.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(373-375)gaG>gaT		OTU deubiquitinase 7B							69.0	73.0	72.0					1																	149939346		1965	4153	6118	SO:0001583	missense	56957	0	0					g.chr1:149939346C>A	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.375G>T	chr1.hg19:g.149939346C>A	ENSP00000358131:p.Glu125Asp	1					OTUD7B_ENST00000479905.1_Intron	p.E125D	NM_020205.2	NP_064590.2	1	2	3	2.190011	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)	4	669	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	1	1	hg19	c.375G>T	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886581	0.72410	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32753	1.44;1.48	5.14	4.21	0.49690	5.14	4.21	0.49690	.	0.395933	0.29165	N	0.012952	T	0.20251	0.0487	L	0.51422	1.61	0.53005	D	0.999968	P	0.38992	0.653	B	0.41764	0.366	T	0.01516	-1.1335	9	.	.	.	-11.7346	13.3302	0.60483	0.0:0.922:0.0:0.078	.	125	Q6GQQ9	OTU7B_HUMAN	D	125	ENSP00000358131:E125D;ENSP00000408231:E125D	.	E	-	3	2	2	OTUD7B	148205970	148205970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.341000	0.33907	2.672000	0.90937	0.557000	0.71058	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	0		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_020205			63	62		295	290	1		1	1		0	0	74	0		1	9.992911e-01	0	8	0	45	0	63	295
OTUD7B	56957	broad.mit.edu	37	1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	98					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)			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)			GTGGGAGATGCCCCTAGACAG	0.552																																						ENST00000369135.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(292-294)gGc>gAc		OTU deubiquitinase 7B							46.0	51.0	49.0					1																	149939428		1958	4155	6113	SO:0001583	missense	56957	0	0					g.chr1:149939428C>T	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.293G>A	chr1.hg19:g.149939428C>T	ENSP00000358131:p.Gly98Asp	1					OTUD7B_ENST00000479905.1_Intron	p.G98D	NM_020205.2	NP_064590.2	1	2	3	2.190011	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)	4	587	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	1	1	hg19	c.293G>A	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282575	0.80692	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39997	1.05;1.26	5.25	4.34	0.51931	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56232	-0.8013	9	.	.	.	-35.5759	13.1151	0.59295	0.0:0.9234:0.0:0.0766	.	98	Q6GQQ9	OTU7B_HUMAN	D	98	ENSP00000358131:G98D;ENSP00000408231:G98D	.	G	-	2	0	0	OTUD7B	148206052	148206052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.454000	0.47793	0.557000	0.71058	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_020205			52	52		255	250	1		1	1		0	0	62	0		1	9.946884e-01	0	7	0	35	0	52	255
APH1A	51107	broad.mit.edu	37	1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000369109.3	-	3	531	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R115C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	115					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|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)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582																																						ENST00000369109.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999797	0.990000	1.000000																										0				9						c.(343-345)Cgc>Tgc		APH1A gamma secretase subunit							37.0	42.0	40.0					1																	150240131		1968	4158	6126	SO:0001583	missense	51107	4	120888	37				g.chr1:150240131G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.343C>T	chr1.hg19:g.150240131G>A	ENSP00000358105:p.Arg115Cys	1					C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R115C	p.R115C	NM_001077628.2	NP_001071096.1	1	2	3	2.190011	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	531	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	0	1	hg19	c.343C>T	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113317	0.77210	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.48522	0.81;0.81;0.81	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.139815	0.49916	D	0.000132	T	0.61677	0.2366	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;D;D	0.65874	0.81;0.857;0.912;0.939	T	0.62120	-0.6921	10	0.40728	T	0.16	-4.3304	15.7896	0.78343	0.0:0.0:1.0:0.0	.	58;115;115;115	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	C	115;115;58	ENSP00000358105:R115C;ENSP00000353380:R115C;ENSP00000236017:R58C	ENSP00000236017:R58C	R	-	1	0	0	APH1A	148506755	148506755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.583000	0.87209	0.491000	0.48974	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	1	0	0		2	2	2	0		0	0	11		11	10	1	2.060000	-3.242741	1	0.170000	NM_016022			16	15		82	80	1		1	1		0	0	11	0		9.999476e-01	1	0	320	0	690	0	16	82
APH1A	51107	broad.mit.edu	37	1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000369109.3	-	3	517	c.329C>T	c.(328-330)tCa>tTa	p.S110L	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.S110L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	110					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|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)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592																																						ENST00000369109.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998678	0.990000	1.000000																										0				9						c.(328-330)tCa>tTa		APH1A gamma secretase subunit							42.0	47.0	46.0					1																	150240145		1981	4161	6142	SO:0001583	missense	51107	0	0					g.chr1:150240145G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.329C>T	chr1.hg19:g.150240145G>A	ENSP00000358105:p.Ser110Leu	1					C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.S110L	p.S110L	NM_001077628.2	NP_001071096.1	1	2	3	2.190011	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	517	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	0	1	hg19	c.329C>T	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949348	0.34377	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.43294	0.95;0.95;0.95	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26011	0.0634	L	0.46614	1.455	0.80722	D	1	B;B;B;P	0.38223	0.12;0.08;0.098;0.623	B;B;B;B	0.37833	0.048;0.104;0.166;0.259	T	0.04153	-1.0973	10	0.31617	T	0.26	-3.7325	15.7896	0.78343	0.0:0.0:1.0:0.0	.	53;110;110;110	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	L	110;110;53	ENSP00000358105:S110L;ENSP00000353380:S110L;ENSP00000236017:S53L	ENSP00000236017:S53L	S	-	2	0	0	APH1A	148506769	148506769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.673000	0.74482	2.583000	0.87209	0.491000	0.48974	TCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999710	1	0.170000	NM_016022			14	14		84	82	1		1	1		0	0	10	0		9.998036e-01	1	0	311	0	688	0	14	84
CIART	148523	broad.mit.edu	37	1	150255695	150255695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		6	Ser-rich.				circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512																																						ENST00000290363.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(16-18)agC>agT									227.0	215.0	219.0					1																	150255695		2203	4298	6501	SO:0001819	synonymous_variant	0	0	0					g.chr1:150255695C>T																												ENST00000290363.5:c.18C>T	chr1.hg19:g.150255695C>T		1					C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.S6S	p.S6S	NM_144697.2	NP_653298.1	1	2	3	2.190011	Q8N365	CIART_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	1	467	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	1	1	hg19	c.18C>T	CCDS949.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1	1	0	1		2	2	2	0		0	0	181		181	180	1	2.060000	-8.497393	1	0.170000				302	297		899	883	0		1	0		0	0	181	0		1	0	0	1	0	0	0	302	899
MRPS21	54460	broad.mit.edu	37	1	150280587	150280587	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	63					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCGGCGGATCTACAACATGG	0.552																																						ENST00000369084.5	0.700000	0.230000	5.700000e-01	3.200000e-01	0.430000	0.449336	0.430000	0.420000																										0				4						c.(187-189)atC>atA		mitochondrial ribosomal protein S21							62.0	55.0	58.0					1																	150280587		2203	4300	6503	SO:0001819	synonymous_variant	54460	0	0					g.chr1:150280587C>A	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.189C>A	chr1.hg19:g.150280587C>A		1					MRPS21_ENST00000309092.7_Silent_p.I63I	p.I63I	NM_018997.3	NP_061870.1	1	2	3	2.190011	P82921	RT21_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	636	+	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Q5TB11|Q9BST6	Silent	SNP	ENST00000369084.5	1	1	hg19	c.189C>A	CCDS950.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	0	0	1		2	2	2	0		0	0	70		70	66	1	2.060000	-12.306990	1	0.170000	NM_018997			12	12		352	344	0		1	1		0	0	70	0		9.990126e-01	9.999994e-01	0	45	0	891	0	12	352
PRPF3	9129	broad.mit.edu	37	1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	69	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(205-207)gCt>gTt		pre-mRNA processing factor 3							176.0	165.0	168.0					1																	150298269		2203	4300	6503	SO:0001583	missense	9129	0	0					g.chr1:150298269C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.206C>T	chr1.hg19:g.150298269C>T	ENSP00000315379:p.Ala69Val	1					PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V|PRPF3_ENST00000543398.1_5'UTR	p.A69V	NM_004698.2	NP_004689.1	1	2	3	2.190011	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	371	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	1	1	hg19	c.206C>T	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243685	0.22796	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.39592	1.07;1.07	5.57	4.65	0.58169	5.57	4.65	0.58169	Splicing factor PWI (4);	0.047154	0.85682	D	0.000000	T	0.13030	0.0316	N	0.16478	0.41	0.80722	D	1	B;B;B	0.25772	0.043;0.134;0.134	B;B;B	0.20577	0.022;0.03;0.03	T	0.05084	-1.0907	10	0.14656	T	0.56	-8.71	14.2142	0.65783	0.0:0.9282:0.0:0.0718	.	69;69;69	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	V	69	ENSP00000315379:A69V;ENSP00000387844:A69V	ENSP00000315379:A69V	A	+	2	0	0	PRPF3	148564893	148564893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.758000	0.68776	2.785000	0.95823	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	1		2	2	2	0		0	0	181		181	178	1	2.060000	-20.000000	1	0.170000	NM_004698			147	145		763	749	1		1	1		0	0	181	0		1	9.995851e-01	0	10	0	50	0	147	763
PRPF3	9129	broad.mit.edu	37	1	150307598	150307598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000414970.2_Silent_p.S258S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	307					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6	1.000000	0.570000	1	7.200000e-01	0.910000	0.881307	0.910000	1.000000																										0				21						c.(919-921)tcC>tcT		pre-mRNA processing factor 3							91.0	85.0	87.0					1																	150307598		2203	4300	6503	SO:0001819	synonymous_variant	9129	0	0					g.chr1:150307598C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.921C>T	chr1.hg19:g.150307598C>T		1					PRPF3_ENST00000414970.2_Silent_p.S258S|PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR	p.S307S	NM_004698.2	NP_004689.1	1	2	3	2.190011	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	7	1086	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	1	1	hg19	c.921C>T	CCDS951.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.221977	1	0.170000	NM_004698			19	18		249	242	0		1	1		0	0	51	0		9.999895e-01	9.800190e-01	0	6	0	80	0	19	249
PRPF3	9129	broad.mit.edu	37	1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	409					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAAGAGAGAAGATTATTTTG	0.388																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(1225-1227)gaA>gaC		pre-mRNA processing factor 3							80.0	75.0	77.0					1																	150312898		2203	4300	6503	SO:0001583	missense	9129	0	0					g.chr1:150312898A>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1227A>C	chr1.hg19:g.150312898A>C	ENSP00000315379:p.Glu409Asp	1					PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D|PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR	p.E409D	NM_004698.2	NP_004689.1	1	2	3	2.190011	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	9	1392	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	1	1	hg19	c.1227A>C	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.411230	0.25465	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.85411	-1.98;-1.98	5.67	3.4	0.38934	5.67	3.4	0.38934	Pre-mRNA-splicing factor 3 (1);	0.097540	0.64402	D	0.000001	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.20184	0.028;0.016	T	0.61628	-0.7024	10	0.30078	T	0.28	-16.2751	5.3519	0.16040	0.7292:0.0:0.1264:0.1444	.	360;409	E7EVD1;O43395	.;PRPF3_HUMAN	D	409;360	ENSP00000315379:E409D;ENSP00000387844:E360D	ENSP00000315379:E409D	E	+	3	2	2	PRPF3	148579522	148579522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	2.164000	0.68074	0.454000	0.30748	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.986800	1	0.170000	NM_004698			44	44		249	245	1		1	1		0	0	48	0		1	9.999672e-01	0	19	0	71	0	44	249
TARS2	80222	broad.mit.edu	37	1	150470161	150470161	+	Silent	SNP	C	C	T	rs374221932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150470161C>T	ENST00000369064.3	+	10	1210	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	TARS2_ENST00000606933.1_Silent_p.D310D|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	392					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)			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)	CCCAGAGTGACGATTCTACCA	0.547																																						ENST00000369064.3	0.790000	0.170000	6.000000e-01	2.700000e-01	0.410000	0.445692	0.410000	0.390000																										0				35						c.(1174-1176)gaC>gaT		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)	C		0,4406		0,0,2203	65.0	56.0	59.0		1176	1.2	0.0	1		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TARS2	NM_025150.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		392/719	150470161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80222	2	121412	34				g.chr1:150470161C>T	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.1176C>T	chr1.hg19:g.150470161C>T		1					TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	p.D392D	NM_025150.3	NP_079426.2	1	2	3	2.190011	Q9BW92	SYTM_HUMAN	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)	10	1210	+	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)		Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	0	1	hg19	c.1176C>T	CCDS952.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	0	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-8.020202	1	0.170000	NM_025150			6	6		189	186	0		1	1		0	0	44	0		9.634104e-01	8.574499e-01	0	8	0	106	0	6	189
ECM1	1893	broad.mit.edu	37	1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	198	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4	0.980000	0.650000	9.000000e-01	7.300000e-01	0.810000	0.820147	0.810000	0.810000																										0				22						c.(592-594)tCc>tAc		extracellular matrix protein 1							143.0	146.0	145.0					1																	150483559		2203	4300	6503	SO:0001583	missense	1893	0	0					g.chr1:150483559C>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.593C>A	chr1.hg19:g.150483559C>A	ENSP00000358043:p.Ser198Tyr	1					ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR	p.S198Y	NM_004425.3	NP_004416.2	1	2	3	2.190011	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)	6	718	+	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)		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	1	1	hg19	c.593C>A	CCDS953.1	0	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672578	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77098	-1.07;-1.07;-1.07	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.632800	0.15972	N	0.235704	T	0.81697	0.4877	L	0.53249	1.67	0.38322	D	0.943551	D;D;D;D;D;D	0.71674	0.995;0.998;0.991;0.998;0.993;0.998	D;D;P;D;P;D	0.68483	0.913;0.914;0.904;0.958;0.827;0.958	T	0.83003	-0.0176	10	0.87932	D	0	-4.0979	13.7487	0.62894	0.0:1.0:0.0:0.0	.	120;127;225;198;198;198	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Y	225;198;198	ENSP00000358045:S225Y;ENSP00000358043:S198Y;ENSP00000271630:S198Y	ENSP00000271630:S198Y	S	+	2	0	0	ECM1	148750183	148750183	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	2.324000	0.43831	2.640000	0.89533	0.655000	0.94253	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	1	0	1		2	2	2	0		0	0	239		239	236	1	2.060000	-13.171100	1	0.170000	NM_004425			87	83		1276	1256	0		1	1		0	0	239	0		1	9.999997e-01	0	23	0	278	0	87	1276
ECM1	1893	broad.mit.edu	37	1	150485713	150485713	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340Q|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000369049.4_Splice_Site_p.K492Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	465					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1393-1395)Aaa>Caa		extracellular matrix protein 1							115.0	114.0	114.0					1																	150485713		2203	4300	6503	SO:0001630	splice_region_variant	1893	0	0					g.chr1:150485713A>C	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1393-1A>C	chr1.hg19:g.150485713A>C		1					ECM1_ENST00000346569.6_Splice_Site_p.K340Q|ECM1_ENST00000369049.4_Splice_Site_p.K492Q|ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA	p.K465Q	NM_004425.3	NP_004416.2	1	2	3	2.190011	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)	10	1518	+	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)		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Splice_Site	SNP	ENST00000369047.4	1	0	hg19	c.1393A>C	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674109	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.80653	-1.4;-1.4;-1.4	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.464588	0.22030	N	0.065614	T	0.81148	0.4762	L	0.56769	1.78	0.32759	N	0.505366	D;D;D	0.71674	0.994;0.998;0.987	P;D;P	0.65987	0.869;0.94;0.783	T	0.80763	-0.1237	9	.	.	.	-7.8259	10.7452	0.46177	1.0:0.0:0.0:0.0	.	492;340;465	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	492;465;340	ENSP00000358045:K492Q;ENSP00000358043:K465Q;ENSP00000271630:K340Q	.	K	+	1	0	0	ECM1	148752337	148752337	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.947000	0.56652	2.026000	0.59711	0.460000	0.39030	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_004425	Missense_Mutation		104	101		274	268	1		1	1		0	0	83	0		1	1	0	77	0	294	0	104	274
ADAMTSL4	54507	broad.mit.edu	37	1	150525688	150525688	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000369038.2	+	3	594	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000271643.4_Silent_p.H131H|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	131					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)			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)			CCGCTTCCCACCTAGGGAGAG	0.642																																						ENST00000369038.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(391-393)caC>caT		ADAMTS-like 4							26.0	30.0	29.0					1																	150525688		2190	4283	6473	SO:0001819	synonymous_variant	54507	0	0					g.chr1:150525688C>T	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.393C>T	chr1.hg19:g.150525688C>T		1					ADAMTSL4_ENST00000369039.5_Silent_p.H131H|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H	p.H131H			1	2	3	2.190011	Q6UY14	ATL4_HUMAN	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)	3	594	+	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)		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	1	1	hg19	c.393C>T	CCDS955.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_019032			57	57		328	321	1		1	1		0	0	52	0		1	9.906099e-01	0	5	0	39	0	57	328
ADAMTSL4	54507	broad.mit.edu	37	1	150525719	150525719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525719G>T	ENST00000369038.2	+	3	625	c.424G>T	c.(424-426)Gcg>Tcg	p.A142S	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	142					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)			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)			GGAGATTCGAGCGGCCAGGAG	0.632																																						ENST00000369038.2	1.000000	0.410000	9.000000e-01	5.500000e-01	0.710000	0.726049	0.710000	1.000000																										0				32						c.(424-426)Gcg>Tcg		ADAMTS-like 4							19.0	22.0	21.0					1																	150525719		2188	4281	6469	SO:0001583	missense	54507	0	0					g.chr1:150525719G>T	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.424G>T	chr1.hg19:g.150525719G>T	ENSP00000358034:p.Ala142Ser	1					ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S	p.A142S			1	2	3	2.190011	Q6UY14	ATL4_HUMAN	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)	3	625	+	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)		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	0	1	hg19	c.424G>T	CCDS955.1	0	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057628	0.19907	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61510	0.2;0.1;0.39;0.1	4.24	3.3	0.37823	4.24	3.3	0.37823	.	.	.	.	.	T	0.16685	0.0401	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.19200	0.006;0.013;0.018;0.034	B;B;B;B	0.24394	0.008;0.037;0.01;0.053	T	0.18116	-1.0347	9	0.54805	T	0.06	.	8.3419	0.32249	0.1165:0.0:0.8835:0.0	.	142;142;142;142	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	S	142	ENSP00000358037:A142S;ENSP00000271643:A142S;ENSP00000358035:A142S;ENSP00000358034:A142S	ENSP00000271643:A142S	A	+	1	0	0	ADAMTSL4	148792343	148792343	0.013000	0.17824	0.022000	0.16811	0.095000	0.18619	1.985000	0.40668	1.911000	0.55334	0.561000	0.74099	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	0	0		2	2	2	0		0	0	35		35	34	1	2.060000	-18.153360	1	0.170000	NM_019032			15	15		258	250	0		1	0		0	0	35	0		9.998549e-01	7.324338e-01	0	1	0	45	0	15	258
ADAMTSL4	54507	broad.mit.edu	37	1	150525729	150525729	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000369038.2	+	3	635	c.434G>T	c.(433-435)aGg>aTg	p.R145M	ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	145					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)			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)			GCGGCCAGGAGGTGAGAGGCC	0.632																																						ENST00000369038.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999813	0.990000	1.000000																										0				32						c.(433-435)aGg>aTg		ADAMTS-like 4							17.0	20.0	19.0					1																	150525729		2189	4285	6474	SO:0001630	splice_region_variant	54507	0	0					g.chr1:150525729G>T	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.434+1G>T	chr1.hg19:g.150525729G>T		1					ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M	p.R145M			1	2	3	2.190011	Q6UY14	ATL4_HUMAN	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)	3	635	+	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)		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Splice_Site	SNP	ENST00000369038.2	1	0	hg19	c.434G>T	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714946	0.68844	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72167	-0.58;-0.63;-0.37;-0.63	4.46	4.46	0.54185	4.46	4.46	0.54185	.	.	.	.	.	T	0.76499	0.3996	M	0.63843	1.955	0.39085	D	0.960988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.79869	-0.1621	9	0.66056	D	0.02	.	12.603	0.56506	0.0:0.0:1.0:0.0	.	145;145;145;145	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	145	ENSP00000358037:R145M;ENSP00000271643:R145M;ENSP00000358035:R145M;ENSP00000358034:R145M	ENSP00000271643:R145M	R	+	2	0	0	ADAMTSL4	148792353	148792353	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	4.520000	0.60524	2.029000	0.59856	0.561000	0.74099	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	0		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_019032	Missense_Mutation		33	33		228	220	1		1	1		0	0	37	0		1	9.737360e-01	0	5	0	38	0	33	228
ADAMTSL4	54507	broad.mit.edu	37	1	150532376	150532376	+	Missense_Mutation	SNP	G	G	A	rs56411234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150532376G>A	ENST00000369038.2	+	16	3284	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R1028H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R1051H|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1028			R -> H (in dbSNP:rs56411234).		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)			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)			TGCAGCCAGCGCCCTGGTAAA	0.607											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	38	0.00758786	0.0015	0.0101	5008	,	,		15923	0.0		0.0278	False		,,,				2504	0.001					ENST00000369038.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3082-3084)cGc>cAc		ADAMTS-like 4		G	HIS/ARG	33,4373	38.4+/-70.7	0,33,2170	70.0	77.0	75.0		3083	3.2	1.0	1	dbSNP_129	75	256,8344	101.0+/-162.3	5,246,4049	yes	missense	ADAMTSL4	NM_019032.4	29	5,279,6219	AA,AG,GG		2.9767,0.749,2.2221	benign	1028/1075	150532376	289,12717	2203	4300	6503	SO:0001583	missense	54507	1880	121412	66				g.chr1:150532376G>A	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.3083G>A	chr1.hg19:g.150532376G>A	ENSP00000358034:p.Arg1028His	1		OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R1051H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R1028H	p.R1028H			1	2	3	2.190011	Q6UY14	ATL4_HUMAN	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)	16	3284	+	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)		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	1	0	hg19	c.3083G>A	CCDS955.1	1	28	0.01282051282051282	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	24	0.0316622691292876	G	13.16	2.155577	0.38021	0.00749	0.029767	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.63255	-0.03;0.26;-0.03	5.5	3.24	0.37175	5.5	3.24	0.37175	.	.	.	.	.	T	0.27798	0.0684	N	0.20986	0.625	0.32838	D	0.505026	B;B;B	0.16603	0.018;0.012;0.014	B;B;B	0.15484	0.005;0.013;0.003	T	0.07966	-1.0745	9	0.38643	T	0.18	.	9.6429	0.39850	0.0912:0.1498:0.759:0.0	rs56411234	989;1051;1028	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	H	1028;1051;1028	ENSP00000271643:R1028H;ENSP00000358035:R1051H;ENSP00000358034:R1028H	ENSP00000271643:R1028H	R	+	2	0	0	ADAMTSL4	148799000	148799000	.	.	1.000000	0.80357	0.993000	0.82548	.	.	1.288000	0.44600	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-2.890259	1	0.170000	NM_019032			128	124		633	620	1		1	1		0	0	121	0		1	9.999995e-01	0	13	0	87	0	128	633
MCL1	4170	broad.mit.edu	37	1	150551721	150551721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000307940.3_Silent_p.L96L|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	96					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)			AAGAAAAGCAGCCTCGCGGGG	0.741																																						ENST00000369026.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(286-288)Ctg>Ttg		myeloid cell leukemia 1							4.0	6.0	5.0					1																	150551721		1735	3755	5490	SO:0001819	synonymous_variant	4170	0	0					g.chr1:150551721G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.286C>T	chr1.hg19:g.150551721G>A		1					MCL1_ENST00000307940.3_Silent_p.L96L|MCL1_ENST00000464132.1_5'Flank	p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	1	2	3	2.190011	Q07820	MCL1_HUMAN	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)	1	345	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	1	1	hg19	c.286C>T	CCDS957.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_021960			19	19		63	61	0		1	1		0	0	21	0		9.999953e-01	9.813805e-01	0	9	0	16	0	19	63
ENSA	2029	broad.mit.edu	37	1	150598174	150598174	+	Silent	SNP	G	G	A	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000369014.5	-	3	419	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000503241.1_Silent_p.P114P			O43768	ENSA_HUMAN	endosulfine alpha	98					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)			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)			CCTGTGGGGTGGGGATGTGAT	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18647	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(188;763 2078 3002 3411 26027)	ENST00000369014.5	0.720000	0.220000	5.800000e-01	3.100000e-01	0.430000	0.451011	0.430000	0.420000																										0				4						c.(292-294)ccC>ccT		endosulfine alpha		G	,,,,,,	11,4395	17.9+/-39.9	0,11,2192	108.0	92.0	97.0		294,342,342,294,330,282,282	3.4	1.0	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENSA	NM_004436.2,NM_207042.1,NM_207043.1,NM_207044.1,NM_207045.1,NM_207046.1,NM_207047.1	,,,,,,	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,,,,,,	98/122,114/138,114/134,98/118,110/134,94/118,94/114	150598174	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2029	26	121412	47				g.chr1:150598174G>A	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.294C>T	chr1.hg19:g.150598174G>A		1					ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P	p.P98P			1	2	3	2.190011	O43768	ENSA_HUMAN	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)	3	419	-	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)		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Silent	SNP	ENST00000369014.5	1	1	hg19	c.294C>T	CCDS958.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.142702	1	0.170000	NM_207042			10	10		296	288	0		1	1		0	0	50	0		9.965773e-01	9.999998e-01	0	51	0	1143	0	10	296
GOLPH3L	55204	broad.mit.edu	37	1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	261					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)			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)			ACTTCAGGGTCCAGTTCTACT	0.488																																						ENST00000271732.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(781-783)Gac>Aac		golgi phosphoprotein 3-like							131.0	121.0	125.0					1																	150620874		2203	4300	6503	SO:0001583	missense	55204	0	0					g.chr1:150620874C>T	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.781G>A	chr1.hg19:g.150620874C>T	ENSP00000271732:p.Asp261Asn	1					GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	p.D261N	NM_018178.5	NP_060648.2	1	2	3	2.190011	Q9H4A5	GLP3L_HUMAN	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)	5	825	-	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)		B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	1	1	hg19	c.781G>A	CCDS966.1	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851878	0.71719	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	4.49	0.54785	5.44	4.49	0.54785	.	0.054669	0.64402	D	0.000001	T	0.60612	0.2282	M	0.91768	3.24	0.52501	D	0.999956	P;B	0.38729	0.644;0.002	B;B	0.40444	0.329;0.001	T	0.69461	-0.5139	9	0.54805	T	0.06	-15.6672	8.8888	0.35420	0.1512:0.7702:0.0:0.0786	.	217;261	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	261;283;217	.	ENSP00000271732:D261N	D	-	1	0	0	GOLPH3L	148887498	148887498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.832000	0.97577	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_018178			117	115		365	361	1		1	1		0	0	79	0		1	1	0	99	0	134	0	117	365
CTSS	1520	broad.mit.edu	37	1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	273					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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 exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|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)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343																																						ENST00000368985.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(817-819)aCt>aTt		cathepsin S							127.0	122.0	124.0					1																	150720331		2203	4300	6503	SO:0001583	missense	1520	0	0					g.chr1:150720331G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.818C>T	chr1.hg19:g.150720331G>A	ENSP00000357981:p.Thr273Ile	1					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	p.T273I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	1	2	3	2.190011	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)	7	1078	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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)		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	1	1	hg19	c.818C>T	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341288	0.41498	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.87412	-2.25;1.91	5.4	4.42	0.53409	5.4	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.269717	0.41605	D	0.000842	D	0.86029	0.5835	N	0.26130	0.795	0.41652	D	0.989139	D;P	0.67145	0.996;0.883	D;P	0.70935	0.971;0.738	D	0.88321	0.2962	10	0.87932	D	0	.	13.6284	0.62181	0.0:0.0:0.8444:0.1556	.	223;273	B4DWC9;P25774	.;CATS_HUMAN	I	223;273	ENSP00000408414:T223I;ENSP00000357981:T273I	ENSP00000357981:T273I	T	-	2	0	0	CTSS	148986955	148986955	0.920000	0.31207	0.940000	0.37924	0.066000	0.16364	1.569000	0.36428	2.521000	0.84997	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_004079			99	99		457	452	1		1	1		0	0	100	0		1	1	0	193	0	1850	0	99	457
CTSS	1520	broad.mit.edu	37	1	150724344	150724344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	180					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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 exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|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)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488																																						ENST00000368985.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(538-540)tgC>tgT		cathepsin S							225.0	200.0	208.0					1																	150724344		2203	4300	6503	SO:0001819	synonymous_variant	1520	0	0					g.chr1:150724344G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.540C>T	chr1.hg19:g.150724344G>A		1					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	p.C180C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	1	2	3	2.190011	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)	5	800	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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)		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	1	1	hg19	c.540C>T	CCDS968.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_004079			109	105		579	563	0		1	1		0	0	90	0		1	1	0	234	0	2048	0	109	579
ANXA9	8416	broad.mit.edu	37	1	150957102	150957102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150957102C>T	ENST00000368947.4	+	7	898	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	141					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	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)			GAAATTCTTGCCACTCGAACC	0.537																																						ENST00000368947.4	0.840000	0.180000	6.400000e-01	2.900000e-01	0.440000	0.473742	0.440000	0.420000																										0				8						c.(421-423)gCc>gTc		annexin A9							60.0	56.0	57.0					1																	150957102		2203	4300	6503	SO:0001583	missense	8416	0	0					g.chr1:150957102C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.422C>T	chr1.hg19:g.150957102C>T	ENSP00000357943:p.Ala141Val	1						p.A141V	NM_003568.2	NP_003559.2	1	2	3	2.190011	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)	7	898	+	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)		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	0	1	hg19	c.422C>T	CCDS975.2	0	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803796	0.70682	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.279248	0.30930	N	0.008584	T	0.04182	0.0116	L	0.41124	1.26	0.39600	D	0.969713	P	0.47484	0.896	P	0.50754	0.649	T	0.46247	-0.9205	10	0.52906	T	0.07	.	15.1077	0.72334	0.0:1.0:0.0:0.0	.	141	O76027	ANXA9_HUMAN	V	141	ENSP00000357943:A141V	ENSP00000357943:A141V	A	+	2	0	0	ANXA9	149223726	149223726	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.899000	0.56288	2.700000	0.92200	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.902964	1	0.170000	NM_003568			6	6		177	173	0		1	1		0	0	55	0		9.633056e-01	5.195897e-01	0	4	0	44	0	6	177
C1orf56	54964	broad.mit.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	251						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	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)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.Q251Q(1)	kidney(1)	7						c.(751-753)caA>caG		chromosome 1 open reading frame 56							125.0	131.0	129.0					1																	151021076		2203	4300	6503	SO:0001819	synonymous_variant	54964	0	0					g.chr1:151021076A>G	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	chr1.hg19:g.151021076A>G		1		OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.Q251Q	NM_017860.3	NP_060330.2	1	2	3	2.190011	Q9BUN1	MENT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)	1	861	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	1	1	hg19	c.753A>G	CCDS980.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	1	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-20.000000	1	0.170000	NM_017860			310	307		907	884	1		1	1		0	0	216	0		1	9.533009e-01	0	4	0	13	0	310	907
SEMA6C	10500	broad.mit.edu	37	1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GAGAGAGGGCGCGGGAGCCCC	0.721																																						ENST00000341697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1939-1941)Cgc>Tgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							12.0	17.0	15.0					1																	151105814		2183	4269	6452	SO:0001583	missense	10500	0	0					g.chr1:151105814G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1939C>T	chr1.hg19:g.151105814G>A	ENSP00000344148:p.Arg647Cys	1					RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank	p.R647C			1	2	3	2.190011	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)	19	3630	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	1	1	hg19	c.1939C>T	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933014	0.73442	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.89	3.89	0.44902	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63343	0.2503	N	0.21282	0.65	0.45108	D	0.998121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.94;0.988	T	0.59941	-0.7359	10	0.49607	T	0.09	.	8.7857	0.34818	0.0:0.0:0.7751:0.2249	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	C	647;639;679;647	ENSP00000357910:R647C;ENSP00000357908:R639C;ENSP00000357909:R679C;ENSP00000344148:R647C	ENSP00000344148:R647C	R	-	1	0	0	SEMA6C	149372438	149372438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.046000	0.57376	1.999000	0.58509	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-20.000000	1	0.170000	NM_030913			23	23		73	72	0		1	0		0	0	16	0		9.999998e-01	2.512134e-01	0	1	0	3	0	23	73
SEMA6C	10500	broad.mit.edu	37	1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T	rs373129237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	25					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			TGGGGAAAGGCGGCCTGAGTA	0.607																																						ENST00000341697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(73-75)Gcc>Acc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	54.0	53.0		73,73,73	0.4	0.5	1		53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	25/963,25/923,25/931	151115025	1,13005	2203	4300	6503	SO:0001583	missense	10500	4	121368	35				g.chr1:151115025C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.73G>A	chr1.hg19:g.151115025C>T	ENSP00000344148:p.Ala25Thr	1						p.A25T			1	2	3	2.190011	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)	3	1764	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	1	1	hg19	c.73G>A	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136424	0.21123	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18657	2.2;2.42;2.23;2.2	4.69	0.448	0.16614	4.69	0.448	0.16614	.	0.900793	0.09727	N	0.763666	T	0.02848	0.0085	N	0.12182	0.205	0.20074	N	0.999937	B;B;B;B	0.31817	0.011;0.341;0.076;0.066	B;B;B;B	0.19148	0.006;0.024;0.021;0.01	T	0.40553	-0.9557	10	0.40728	T	0.16	.	6.1663	0.20392	0.0:0.5412:0.0:0.4588	.	25;25;25;25	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	25	ENSP00000357910:A25T;ENSP00000357908:A25T;ENSP00000357909:A25T;ENSP00000344148:A25T	ENSP00000344148:A25T	A	-	1	0	0	SEMA6C	149381649	149381649	0.057000	0.20700	0.453000	0.27007	0.785000	0.44390	0.048000	0.14078	0.231000	0.21079	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.473616	1	0.170000	NM_030913			38	37		169	167	0		1	0		0	0	35	0		1	7.196559e-01	0	1	0	12	0	38	169
ZNF687	57592	broad.mit.edu	37	1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGTCCCGAGCAGTCTGAGG	0.602																																						ENST00000368879.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(277-279)gaG>gaT		zinc finger protein 687							53.0	57.0	56.0					1																	151259046		2203	4300	6503	SO:0001583	missense	57592	0	0					g.chr1:151259046G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.279G>T	chr1.hg19:g.151259046G>T	ENSP00000357874:p.Glu93Asp	1						p.E93D	NM_020832.1	NP_065883.1	1	2	3	2.190011	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)	2	377	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	1	1	hg19	c.279G>T		1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810743	0.32053	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01119	5.31;5.31;5.63	4.32	1.17	0.20885	4.32	1.17	0.20885	.	0.000000	0.35585	N	0.003114	T	0.00754	0.0025	L	0.39898	1.24	0.30252	N	0.794028	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.42085	-0.9472	10	0.07644	T	0.81	.	4.2579	0.10726	0.3087:0.0:0.5254:0.1658	.	93;93;93	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	102;93;93;93	ENSP00000336620:E93D;ENSP00000319829:E93D;ENSP00000357874:E93D	ENSP00000319829:E93D	E	+	3	2	2	ZNF687	149525670	149525670	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	2.986000	0.49370	0.476000	0.27440	0.313000	0.20887	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_020832			64	61		360	352	1		1	1		0	0	68	0		1	9.999162e-01	0	12	0	67	0	64	360
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532																																						ENST00000290524.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(559-561)Gaa>Taa		regulatory factor X, 5 (influences HLA class II expression)							57.0	54.0	55.0					1																	151316355		2203	4300	6503	SO:0001587	stop_gained	5993	0	0					g.chr1:151316355C>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.559G>T	chr1.hg19:g.151316355C>A	ENSP00000290524:p.Glu187*	1					RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RP11-126K1.8_ENST00000422153.1_RNA	p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	1	2	3	2.190011	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)	9	737	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	0	1	hg19	c.559G>T	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.406966	0.97542	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	.	.	.	5.81	4.89	0.63831	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	.	.	.	X	187;187;79;187;147;187;187	.	ENSP00000290524:E187X	E	-	1	0	0	RFX5	149582979	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_000449			77	75		234	231	0		1	1		0	0	33	0		1	1	0	7	0	106	0	77	234
POGZ	23126	broad.mit.edu	37	1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1271	DDE.				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)			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)			GTTCTTGACAGTTCTTTTGAT	0.478																																						ENST00000271715.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(3811-3813)aCt>aTt		pogo transposable element with ZNF domain							174.0	175.0	175.0					1																	151377699		2203	4300	6503	SO:0001583	missense	23126	0	0					g.chr1:151377699G>A	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.3812C>T	chr1.hg19:g.151377699G>A	ENSP00000271715:p.Thr1271Ile	1					POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I	p.T1271I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	1	2	3	2.190011	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)	19	4126	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	1	1	hg19	c.3812C>T	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848517	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	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	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.075082	0.56097	D	0.000031	T	0.34077	0.0885	N	0.08118	0	0.32220	N	0.575412	P;P;D;D;B;P	0.67145	0.481;0.481;0.996;0.996;0.426;0.481	B;B;D;D;B;B	0.64144	0.22;0.22;0.922;0.922;0.14;0.22	T	0.39522	-0.9610	10	0.49607	T	0.09	-17.7954	19.2359	0.93858	0.0:0.0:1.0:0.0	.	1209;1262;1176;1227;1218;1271	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	I	1218;1271;1218;1176;1262;1209;633;1227	ENSP00000376484:T1218I;ENSP00000271715:T1271I;ENSP00000354467:T1218I;ENSP00000357856:T1176I;ENSP00000386836:T1262I;ENSP00000431259:T1209I;ENSP00000443547:T633I;ENSP00000418408:T1227I	ENSP00000271715:T1271I	T	-	2	0	0	POGZ	149644323	149644323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.115000	0.64655	2.894000	0.99253	0.591000	0.81541	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	1	0	1		2	2	2	0		0	0	220		220	219	1	2.060000	-20.000000	1	0.170000	NM_207171			202	200		1018	1003	1		1	1		0	0	220	0		1	9.999988e-01	0	26	0	69	0	202	1018
POGZ	23126	broad.mit.edu	37	1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1229	DDE.				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)			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)			TGCGATGACAGTCCATCACAA	0.532																																						ENST00000271715.2	0.550000	0.190000	4.500000e-01	2.500000e-01	0.340000	0.358640	0.340000	0.330000																										0				47						c.(3685-3687)gaC>gaA		pogo transposable element with ZNF domain							103.0	93.0	97.0					1																	151377824		2203	4300	6503	SO:0001583	missense	23126	0	0					g.chr1:151377824G>T	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.3687C>A	chr1.hg19:g.151377824G>T	ENSP00000271715:p.Asp1229Glu	1					POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E	p.D1229E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	1	2	3	2.190011	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)	19	4001	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	1	1	hg19	c.3687C>A	CCDS997.1	0	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332214	0.60853	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.72228	0.3434	M	0.66297	2.02	0.45005	D	0.998021	D;D;D;D;D;D	0.76494	0.999;0.999;0.996;0.996;0.99;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.987;0.987;0.98;0.997	T	0.74777	-0.3550	10	0.87932	D	0	-22.2533	13.2928	0.60280	0.0761:0.0:0.9239:0.0	.	1167;1220;1134;1185;1176;1229	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	1176;1229;1176;1134;1220;1167;591;1185	ENSP00000376484:D1176E;ENSP00000271715:D1229E;ENSP00000354467:D1176E;ENSP00000357856:D1134E;ENSP00000386836:D1220E;ENSP00000431259:D1167E;ENSP00000443547:D591E;ENSP00000418408:D1185E	ENSP00000271715:D1229E	D	-	3	2	2	POGZ	149644448	149644448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.439000	0.52878	2.838000	0.97847	0.591000	0.81541	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	0	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-11.442590	1	0.170000	NM_207171			13	12		480	474	0		1	1		0	0	107	0		9.994918e-01	7.734633e-01	0	3	0	103	0	13	480
CGN	57530	broad.mit.edu	37	1	151493070	151493070	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin						transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552																																						ENST00000271636.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.e5-1		cingulin							85.0	78.0	80.0					1																	151493070		2203	4300	6503	SO:0001630	splice_region_variant	57530	0	0					g.chr1:151493070A>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1045-1A>G	chr1.hg19:g.151493070A>G		1							NM_020770.2	NP_065821.1	1	2	3	2.190011	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	5	1177	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		A6H8L3|A7MD22|Q5T386|Q9NR25	Splice_Site	SNP	ENST00000271636.7	1	1	hg19		CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146167	0.37923	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4399	0.16501	0.7356:0.1773:0.0871:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CGN	149759694	149759694	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.192000	0.65115	2.192000	0.70111	0.533000	0.62120	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_020770	Intron		43	40		124	117	1		1	1		0	0	36	0		1	3.887577e-01	0	4	0	1	0	43	124
CGN	57530	broad.mit.edu	37	1	151497153	151497153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	463	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478																																						ENST00000271636.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1405-1407)Ctg>Ttg		cingulin							16.0	18.0	17.0					1																	151497153		2199	4296	6495	SO:0001819	synonymous_variant	57530	0	0					g.chr1:151497153C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1405C>T	chr1.hg19:g.151497153C>T		1						p.L469L	NM_020770.2	NP_065821.1	1	2	3	2.190011	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	8	1538	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	1	1	hg19	c.1405C>T	CCDS999.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_020770			25	25		100	99	1		1	1		0	0	24	0		9.999999e-01	9.999963e-01	0	35	0	54	0	25	100
TDRKH	11022	broad.mit.edu	37	1	151751711	151751711	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	143	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398																																						ENST00000368822.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(427-429)ggC>ggT		tudor and KH domain containing							86.0	80.0	82.0					1																	151751711		1856	4088	5944	SO:0001819	synonymous_variant	11022	2	120810	29				g.chr1:151751711G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.429C>T	chr1.hg19:g.151751711G>A		1					TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368827.6_Silent_p.G143G	p.G143G			1	2	3	2.190011	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	5	1062	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	1	1	hg19	c.429C>T	CCDS41394.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.671302	1	0.170000	NM_006862			60	59		327	316	1		1	1		0	0	56	0		1	9.979449e-01	0	11	0	42	0	60	327
LINGO4	339398	broad.mit.edu	37	1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	587						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542																																						ENST00000368820.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1759-1761)Cgg>Tgg		leucine rich repeat and Ig domain containing 4							56.0	60.0	59.0					1																	151773422		2203	4300	6503	SO:0001583	missense	339398	0	0					g.chr1:151773422G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1759C>T	chr1.hg19:g.151773422G>A	ENSP00000357810:p.Arg587Trp	1					RP11-98D18.17_ENST00000601909.1_lincRNA	p.R587W	NM_001004432.2	NP_001004432.1	1	2	3	2.190011	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	2	2696	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)			Missense_Mutation	SNP	ENST00000368820.3	1	1	hg19	c.1759C>T	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186448	0.57909	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.32	3.37	0.38596	5.32	3.37	0.38596	.	0.000000	0.43260	D	0.000596	T	0.56863	0.2014	L	0.46157	1.445	0.40508	D	0.980719	D	0.89917	1.0	D	0.69654	0.965	T	0.62534	-0.6834	10	0.87932	D	0	.	11.2733	0.49153	0.0:0.0:0.5399:0.4601	.	587	Q6UY18	LIGO4_HUMAN	W	587	ENSP00000357810:R587W	ENSP00000357810:R587W	R	-	1	2	2	LINGO4	150040046	150040046	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	1.391000	0.34475	0.744000	0.32741	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-6.630703	1	0.170000	XM_291387			136	135		379	374	1		1			0	0	115	0		1	0	0	0	0	0	0	136	379
LINGO4	339398	broad.mit.edu	37	1	151773618	151773618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	521						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577																																						ENST00000368820.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1561-1563)atC>atT		leucine rich repeat and Ig domain containing 4							142.0	148.0	146.0					1																	151773618		2203	4300	6503	SO:0001819	synonymous_variant	339398	0	0					g.chr1:151773618G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1563C>T	chr1.hg19:g.151773618G>A		1					RP11-98D18.17_ENST00000601909.1_lincRNA	p.I521I	NM_001004432.2	NP_001004432.1	1	2	3	2.190011	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	2	2500	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)			Silent	SNP	ENST00000368820.3	1	1	hg19	c.1563C>T	CCDS30855.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1		2	2	2	0		0	0	224		224	219	1	2.060000	-20.000000	1	0.170000	XM_291387			211	206		924	904	1		1	0		0	0	224	0		1	3.489898e-02	0	1	0	1	0	211	924
LINGO4	339398	broad.mit.edu	37	1	151775046	151775046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775046G>T	ENST00000368820.3	-	2	1072	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	45	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGGCCACAGAGCACAGCCT	0.662																																						ENST00000368820.3	1.000000	0.530000	1	7.900000e-01	0.990000	0.928358	0.990000	1.000000																										0				21						c.(133-135)ctC>ctA		leucine rich repeat and Ig domain containing 4							30.0	21.0	24.0					1																	151775046		2199	4298	6497	SO:0001819	synonymous_variant	339398	0	0					g.chr1:151775046G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.135C>A	chr1.hg19:g.151775046G>T		1						p.L45L	NM_001004432.2	NP_001004432.1	1	2	3	2.190011	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	2	1072	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)			Silent	SNP	ENST00000368820.3	0	1	hg19	c.135C>A	CCDS30855.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-12.725910	1	0.170000	XM_291387			7	7		73	71	0		1	0		0	0	15	0		9.805126e-01	0	0	0	0	1	0	7	73
LINGO4	339398	broad.mit.edu	37	1	151775194	151775194	+	Splice_Site	SNP	C	C	A	rs561612887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775194C>A	ENST00000368820.3	-	2	925		c.e2-1			NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTTCAGTCCTGGAATAGAT	0.562																																						ENST00000368820.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				21						c.e2-1		leucine rich repeat and Ig domain containing 4							6.0	6.0	6.0					1																	151775194		2000	3946	5946	SO:0001630	splice_region_variant	339398	0	0					g.chr1:151775194C>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.13-1G>T	chr1.hg19:g.151775194C>A		1							NM_001004432.2	NP_001004432.1	1	2	3	2.190011	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	2	925	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)			Splice_Site	SNP	ENST00000368820.3	0	1	hg19		CCDS30855.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-20.000000	1	0.170000	XM_291387	Intron		12	13		30	28	1		1			0	0	8	0		9.995028e-01	0	0	0	0	0	0	12	30
RORC	6097	broad.mit.edu	37	1	151785743	151785743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000318247.6	-	8	1253	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000356728.6_Silent_p.Y361Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	382	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGCCACCGTATTTGCCTT	0.562																																						ENST00000318247.6	0.590000	0.360000	5.400000e-01	4.100000e-01	0.470000	0.479488	0.470000	0.480000																										0				19						c.(1144-1146)taC>taT		RAR-related orphan receptor C							234.0	235.0	234.0					1																	151785743		2203	4300	6503	SO:0001819	synonymous_variant	6097	3	121412	39				g.chr1:151785743G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1146C>T	chr1.hg19:g.151785743G>A		1					RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000356728.6_Silent_p.Y361Y	p.Y382Y	NM_005060.3	NP_005051.2	1	2	3	2.190011	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	8	1253	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	1	1	hg19	c.1146C>T	CCDS1004.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	0	0	1		2	2	2	0		0	0	294		294	291	1	2.060000	-3.895235	1	0.170000				67	63		1738	1691	0		1	1		0	0	294	1		1	8.699305e-01	0	4	0	91	0	67	1738
RORC	6097	broad.mit.edu	37	1	151787891	151787891	+	Silent	SNP	G	G	A	rs267598021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000318247.6	-	5	416	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000356728.6_Silent_p.F82F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	103	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552																																						ENST00000318247.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(307-309)ttC>ttT		RAR-related orphan receptor C							43.0	41.0	42.0					1																	151787891		2202	4298	6500	SO:0001819	synonymous_variant	6097	2	120460	31				g.chr1:151787891G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.309C>T	chr1.hg19:g.151787891G>A		1					RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000356728.6_Silent_p.F82F	p.F103F	NM_005060.3	NP_005051.2	1	2	3	2.190011	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	5	416	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	1	1	hg19	c.309C>T	CCDS1004.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.236529	1	0.170000				49	49		261	258	1		1	1		0	0	64	0		1	9.999934e-01	0	38	0	59	0	49	261
S100A11	6282	broad.mit.edu	37	1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	55	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403																																					Colon(152;1751 1834 12462 21158 46902)	ENST00000271638.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996290	0.990000	1.000000																										0				3						c.(163-165)Aag>Gag		S100 calcium binding protein A11							67.0	65.0	66.0					1																	152005293		2203	4300	6503	SO:0001583	missense	6282	0	0					g.chr1:152005293T>C	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.163A>G	chr1.hg19:g.152005293T>C	ENSP00000271638:p.Lys55Glu	1					S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	p.K55E	NM_005620.1	NP_005611.1	1	2	3	2.190011	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)	3	282	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	1	1	hg19	c.163A>G	CCDS1009.1	1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742281	0.69418	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	5.09	5.09	0.68999	EF-hand-like domain (1);	0.180386	0.38720	N	0.001594	T	0.21062	0.0507	M	0.91818	3.245	0.45914	D	0.998756	D	0.62365	0.991	P	0.58620	0.842	T	0.05419	-1.0886	10	0.62326	D	0.03	.	11.5407	0.50665	0.0:0.0:0.0:1.0	.	55	P31949	S10AB_HUMAN	E	55	ENSP00000271638:K55E	ENSP00000271638:K55E	K	-	1	0	0	S100A11	150271917	150271917	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.351000	0.44071	2.046000	0.60703	0.402000	0.26972	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_005620			40	38		360	354	1		1	1		0	0	60	0		1	1	0	968	0	6549	0	40	360
TCHHL1	126637	broad.mit.edu	37	1	152058970	152058970	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding (GO:0005509)			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)			GGGCCTCAGGACCTCTCCTCT	0.468																																						ENST00000368806.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1186-1188)ggT>ggA		trichohyalin-like 1							148.0	143.0	145.0					1																	152058970		2203	4300	6503	SO:0001819	synonymous_variant	126637	0	0					g.chr1:152058970A>T		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.1188T>A	chr1.hg19:g.152058970A>T		1						p.G396G	NM_001008536.1	NP_001008536.1	1	2	3	2.190011	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)	3	1252	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	1	1	hg19	c.1188T>A	CCDS30857.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	XM_060104			184	180		868	857	1		1			0	0	139	0		1	0	0	0	0	0	0	184	868
TCHHL1	126637	broad.mit.edu	37	1	152060019	152060019	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding (GO:0005509)			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)			AGGACACAGGGCTGCATGAAA	0.373																																						ENST00000368806.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				60						c.(139-141)Ccc>Acc		trichohyalin-like 1							37.0	36.0	36.0					1																	152060019		2202	4289	6491	SO:0001630	splice_region_variant	126637	0	0					g.chr1:152060019G>T		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.139-1C>A	chr1.hg19:g.152060019G>T		1						p.P47T	NM_001008536.1	NP_001008536.1	1	2	3	2.190011	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)	3	203	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		B2RPK8|Q5VTJ9	Splice_Site	SNP	ENST00000368806.1	1	0	hg19	c.139C>A	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249639	0.39797	.	.	ENSG00000182898	ENST00000368806	T	0.13196	2.61	4.87	4.87	0.63330	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.38897	N	0.001526	T	0.25306	0.0615	M	0.68317	2.08	0.36272	D	0.855259	D	0.89917	1.0	D	0.97110	1.0	T	0.01133	-1.1441	10	0.52906	T	0.07	-12.1731	13.3662	0.60684	0.0:0.0:1.0:0.0	.	47	Q5QJ38	TCHL1_HUMAN	T	47	ENSP00000357796:P47T	ENSP00000357796:P47T	P	-	1	0	0	TCHHL1	150326643	150326643	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	2.939000	0.48995	2.521000	0.84997	0.453000	0.30009	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	XM_060104	Missense_Mutation		38	37		204	200	1		1			0	0	48	0		1	0	0	0	0	0	0	38	204
TCHH	7062	broad.mit.edu	37	1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1838	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGCCGCAGCCTCTGC	0.587																																						ENST00000368804.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(5512-5514)Cgg>Tgg		trichohyalin							60.0	64.0	62.0					1																	152080181		2077	4207	6284	SO:0001583	missense	7062	0	0					g.chr1:152080181G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5512C>T	chr1.hg19:g.152080181G>A	ENSP00000357794:p.Arg1838Trp	1						p.R1838W	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	5511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	1	1	hg19	c.5512C>T	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526451	0.27299	.	.	ENSG00000159450	ENST00000368804	T	0.10960	2.82	4.6	1.42	0.22433	4.6	1.42	0.22433	.	.	.	.	.	T	0.05364	0.0142	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	B	0.41466	0.358	T	0.20306	-1.0279	9	0.51188	T	0.08	-14.4328	13.2874	0.60251	0.0:0.0:0.4975:0.5025	.	1838	Q07283	TRHY_HUMAN	W	1838	ENSP00000357794:R1838W	ENSP00000357794:R1838W	R	-	1	2	2	TCHH	150346805	150346805	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.485000	0.22324	0.030000	0.15379	-2.281000	0.00270	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	1		2	2	2	0		0	0	74		74	69	1	2.060000	-3.118450	1	0.170000	NM_007113			94	93		438	427	1		1	0		0	0	74	0		1	3.180360e-02	0	0	0	2	0	94	438
TCHH	7062	broad.mit.edu	37	1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1757	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCTTTCCGGACGGAGCTG	0.597																																						ENST00000368804.1	0.640000	0.280000	5.500000e-01	3.500000e-01	0.440000	0.458532	0.440000	0.450000																										0				105						c.(5269-5271)cCg>cTg		trichohyalin							52.0	52.0	52.0					1																	152080423		1900	4114	6014	SO:0001583	missense	7062	0	0					g.chr1:152080423G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5270C>T	chr1.hg19:g.152080423G>A	ENSP00000357794:p.Pro1757Leu	1						p.P1757L	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	5269	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	1	1	hg19	c.5270C>T	CCDS41396.1	0	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626138	0.46840	.	.	ENSG00000159450	ENST00000368804	T	0.04360	3.64	3.76	-0.218	0.13142	3.76	-0.218	0.13142	.	.	.	.	.	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	0.33141	T	0.24	.	1.2456	0.01972	0.2985:0.0925:0.1541:0.4549	.	1757	Q07283	TRHY_HUMAN	L	1757	ENSP00000357794:P1757L	ENSP00000357794:P1757L	P	-	2	0	0	TCHH	150347047	150347047	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.629000	0.05575	-0.824000	0.03097	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	0	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-2.681608	1	0.170000	NM_007113			22	22		613	605	0		1	0		0	0	76	0		9.999985e-01	0	0	0	0	1	0	22	613
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs190389251	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													G|||	8	0.00159744	0.0	0.0	5008	,	,		20161	0.006		0.0	False		,,,				2504	0.002					ENST00000368804.1	0.320000	0.100000	2.600000e-01	1.400000e-01	0.200000	0.210914	0.200000	0.210000																										0				105						c.(4969-4971)cgC>cgT		trichohyalin							67.0	68.0	68.0					1																	152080722		1900	4123	6023	SO:0001819	synonymous_variant	7062	52	120850	52				g.chr1:152080722G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4971C>T	chr1.hg19:g.152080722G>A		1						p.R1657R	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	4970	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Silent	SNP	ENST00000368804.1	0	1	hg19	c.4971C>T	CCDS41396.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	0	0	1		2	2	2	0		0	0	124		124	118	1	2.060000	-2.525111	1	0.170000	NM_007113			13	13		829	810	0		1	0		0	0	124	0		9.994550e-01	8.681391e-04	0	0	0	3	0	13	829
TCHH	7062	broad.mit.edu	37	1	152082432	152082432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cttcctcctgctgcagctcct	0.617																																						ENST00000368804.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(3259-3261)caG>caA		trichohyalin							96.0	99.0	98.0					1																	152082432		1983	4154	6137	SO:0001819	synonymous_variant	7062	0	0					g.chr1:152082432C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3261G>A	chr1.hg19:g.152082432C>T		1						p.Q1087Q	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	3260	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Silent	SNP	ENST00000368804.1	1	1	hg19	c.3261G>A	CCDS41396.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_007113			179	176		1139	1100	0		1	0		0	0	160	0		1	1.865593e-02	0	0	0	2	0	179	1139
TCHH	7062	broad.mit.edu	37	1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctcc	0.721																																						ENST00000368804.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				105						c.(1117-1119)Cgc>Tgc		trichohyalin							6.0	9.0	8.0					1																	152084576		1424	3236	4660	SO:0001583	missense	7062	0	0					g.chr1:152084576G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1117C>T	chr1.hg19:g.152084576G>A	ENSP00000357794:p.Arg373Cys	1						p.R373C	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	1116	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	1	1	hg19	c.1117C>T	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	N	8.557	0.876854	0.17395	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.47	1.51	0.23008	3.47	1.51	0.23008	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.35155	0.487	B	0.18561	0.022	T	0.47971	-0.9075	9	0.44086	T	0.13	.	6.206	0.20604	0.114:0.1904:0.6956:0.0	.	373	Q07283	TRHY_HUMAN	C	373	ENSP00000357794:R373C	ENSP00000357794:R373C	R	-	1	0	0	TCHH	150351200	150351200	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.132000	0.15891	0.193000	0.20303	-0.285000	0.09966	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	0		2	2	2	0		0	0	40		40	0	1	2.060000	-20.000000	1	0.170000	NM_007113			45	0		274	0	0					0	0	40	0		0	0	0	0	0	0	0	45	274
TCHH	7062	broad.mit.edu	37	1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	113					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTGCCTGCGATCTTGTAA	0.567																																						ENST00000368804.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(337-339)cGc>cAc		trichohyalin							194.0	184.0	187.0					1																	152085355		1947	4154	6101	SO:0001583	missense	7062	0	0					g.chr1:152085355C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.338G>A	chr1.hg19:g.152085355C>T	ENSP00000357794:p.Arg113His	1						p.R113H	NM_007113.2	NP_009044.2	1	2	3	2.190011	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	337	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	1	1	hg19	c.338G>A	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	7.389	0.630450	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.71	1.59	0.23543	4.71	1.59	0.23543	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.24988	N	0.991556	P	0.48589	0.912	B	0.36608	0.229	T	0.42832	-0.9428	9	0.48119	T	0.1	-1.9391	1.3116	0.02099	0.1722:0.4464:0.1869:0.1946	.	113	Q07283	TRHY_HUMAN	H	113	ENSP00000357794:R113H	ENSP00000357794:R113H	R	-	2	0	0	TCHH	150351979	150351979	0.001000	0.12720	0.931000	0.37212	0.100000	0.18952	-0.024000	0.12435	0.694000	0.31654	0.552000	0.68991	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_007113			278	271		887	859	1		1	0		0	0	154	0		1	0	0	0	0	1	0	278	887
RPTN	126638	broad.mit.edu	37	1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A	rs192865821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473													G|||	4	0.000798722	0.0008	0.0	5008	,	,		24071	0.003		0.0	False		,,,				2504	0.0					ENST00000316073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2311-2313)Cga>Tga		repetin							848.0	672.0	726.0					1																	152127264		1568	3582	5150	SO:0001587	stop_gained	126638	24	120610	51				g.chr1:152127264G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2311C>T	chr1.hg19:g.152127264G>A	ENSP00000317895:p.Arg771*	1						p.R771*	NM_001122965.1	NP_001116437.1	1	2	3	2.190011	Q6XPR3	RPTN_HUMAN		3	2375	-			B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	0	1	hg19	c.2311C>T	CCDS41397.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.007274	0.97195	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.09	1.68	0.24146	5.09	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.24012	N	0.996175	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0492	6.6798	0.23113	0.0867:0.0:0.3764:0.5369	.	.	.	.	X	771;426	.	ENSP00000317895:R771X	R	-	1	2	2	RPTN	150393888	150393888	0.001000	0.12720	0.205000	0.23548	0.272000	0.26649	0.228000	0.17814	0.371000	0.24564	0.643000	0.83706	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	1	0	1		2	2	2	0		0	0	458		458	453	1	2.060000	-3.142702	1	0.170000	XM_371312			443	419		2273	2197	1		1			0	0	458	0		1	0	0	0	0	0	0	443	2273
RPTN	126638	broad.mit.edu	37	1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	227	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A227T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413																																						ENST00000316073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A227T(1)	lung(1)	59						c.(679-681)Gcc>Acc		repetin							235.0	199.0	210.0					1																	152128896		1568	3582	5150	SO:0001583	missense	126638	0	0					g.chr1:152128896C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.679G>A	chr1.hg19:g.152128896C>T	ENSP00000317895:p.Ala227Thr	1						p.A227T	NM_001122965.1	NP_001116437.1	1	2	3	2.190011	Q6XPR3	RPTN_HUMAN		3	743	-			B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	1	1	hg19	c.679G>A	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938550	0.52972	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	1.63	0.23807	4.69	1.63	0.23807	.	.	.	.	.	T	0.03220	0.0094	L	0.58101	1.795	0.09310	N	1	P	0.40144	0.704	B	0.35859	0.212	T	0.35968	-0.9767	9	0.10111	T	0.7	-0.5711	2.3274	0.04226	0.1974:0.5017:0.191:0.11	.	227	Q6XPR3	RPTN_HUMAN	T	227	ENSP00000317895:A227T	ENSP00000317895:A227T	A	-	1	0	0	RPTN	150395520	150395520	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	1.303000	0.33470	2.146000	0.66826	0.442000	0.29010	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	1	0	1		2	2	2	0		0	0	198		198	197	1	2.060000	-20.000000	1	0.170000	XM_371312			289	285		897	876	1		1			0	0	198	0		1	0	0	0	0	0	0	289	897
HRNR	388697	broad.mit.edu	37	1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	656					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)			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)			AGACTGGCCAGATCCAGAGCC	0.587																																						ENST00000368801.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				192						c.(1966-1968)tCt>tAt		hornerin							163.0	173.0	169.0					1																	152192138		2203	4300	6503	SO:0001583	missense	388697	0	0					g.chr1:152192138G>T	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.1967C>A	chr1.hg19:g.152192138G>T	ENSP00000357791:p.Ser656Tyr	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S656Y	NM_001009931.1	NP_001009931.1	1	2	3	2.190011	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	2042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	1	1	hg19	c.1967C>A	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.898	0.535292	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	3.1	0.35709	4.05	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.28964	-1.0027	9	0.56958	D	0.05	.	9.3797	0.38306	0.0:0.219:0.781:0.0	.	656	Q86YZ3	HORN_HUMAN	Y	656	ENSP00000357791:S656Y	ENSP00000357791:S656Y	S	-	2	0	0	HRNR	150458762	150458762	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.274000	0.18680	0.864000	0.35578	0.644000	0.83932	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	0		2	2	2	0		0	0	327		327	321	1	2.060000	-20.000000	1	0.170000	XM_373868			197	188		1292	1096	1		1	0		0	0	327	0		1	0	0	0	0	1	0	197	1292
HRNR	388697	broad.mit.edu	37	1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	633					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)			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)			GTGGCTGGAAGACTGACCTGA	0.577																																						ENST00000368801.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				192						c.(1897-1899)tCt>tTt		hornerin							250.0	243.0	245.0					1																	152192207		2203	4297	6500	SO:0001583	missense	388697	0	0					g.chr1:152192207G>A	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.1898C>T	chr1.hg19:g.152192207G>A	ENSP00000357791:p.Ser633Phe	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S633F	NM_001009931.1	NP_001009931.1	1	2	3	2.190011	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	1973	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	1	1	hg19	c.1898C>T	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	5.680	0.309977	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.7	2.77	0.32553	3.7	2.77	0.32553	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.56612	0.802	T	0.50516	-0.8819	9	0.25751	T	0.34	.	10.104	0.42521	0.0:0.0:0.7977:0.2023	.	633	Q86YZ3	HORN_HUMAN	F	633	ENSP00000357791:S633F	ENSP00000357791:S633F	S	-	2	0	0	HRNR	150458831	150458831	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	0.924000	0.28777	0.753000	0.32945	-0.194000	0.12790	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	0		2	2	2	0		0	0	390		390	377	1	2.060000	-20.000000	1	0.170000	XM_373868			270	249		1526	1252	1		1			0	0	390	0		1	0	0	0	0	0	0	270	1526
HRNR	388697	broad.mit.edu	37	1	152192830	152192830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	425					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)			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)			GCTGGCCGTGGCCTGGAGACT	0.617																																						ENST00000368801.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				192						c.(1273-1275)ggC>ggT		hornerin							75.0	77.0	76.0					1																	152192830		2203	4300	6503	SO:0001819	synonymous_variant	388697	0	0					g.chr1:152192830G>A	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.1275C>T	chr1.hg19:g.152192830G>A		1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G425G	NM_001009931.1	NP_001009931.1	1	2	3	2.190011	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	1350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	1	1	hg19	c.1275C>T	CCDS30859.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	XM_373868			164	164		449	438	1		1			0	0	99	0		1	0	0	0	0	0	0	164	449
FLG	2312	broad.mit.edu	37	1	152276040	152276040	+	Silent	SNP	G	G	A	rs544796549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3774	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.H3774H(2)		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)			CCGATTGCTCGTGGTAGGATC	0.592									Ichthyosis																													ENST00000368799.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995499	0.990000	1.000000																										2	Substitution - coding silent(2)	p.H3774H(2)	lung(1)|prostate(1)	424						c.(11320-11322)caC>caT		filaggrin							379.0	367.0	371.0					1																	152276040		2203	4300	6503	SO:0001819	synonymous_variant	2312	5	121412	46	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152276040G>A	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.11322C>T	chr1.hg19:g.152276040G>A		1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H3774H	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	11357	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	1	1	hg19	c.11322C>T	CCDS30860.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1		2	2	2	0		0	0	496		496	500	1	2.060000	-20.000000	1	0.170000	NM_002016			238	234		2600	2542	0		1			0	0	496	0		1	0	0	0	0	0	0	238	2600
FLG	2312	broad.mit.edu	37	1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T	rs550252644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3373	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)			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)			TGACCGGTCACGTGCGGACTC	0.592									Ichthyosis																													ENST00000368799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(10117-10119)cGt>cAt		filaggrin							292.0	311.0	305.0					1																	152277244		2203	4300	6503	SO:0001583	missense	2312	1	121412	35	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152277244C>T	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.10118G>A	chr1.hg19:g.152277244C>T	ENSP00000357789:p.Arg3373His	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3373H	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	10153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.10118G>A	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228161	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.71	-5.36	0.02689	2.71	-5.36	0.02689	.	.	.	.	.	T	0.00524	0.0017	L	0.60957	1.885	0.09310	N	1	P	0.46706	0.883	P	0.46419	0.516	T	0.18053	-1.0349	9	0.21540	T	0.41	-0.9891	9.4993	0.39008	0.0:0.2497:0.0:0.7503	.	3373	P20930	FILA_HUMAN	H	3373;311	ENSP00000357789:R3373H	ENSP00000357786:R311H	R	-	2	0	0	FLG	150543868	150543868	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.270000	0.02433	-0.396000	0.06452	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1		2	2	2	0		0	0	524		524	516	1	2.060000	-20.000000	1	0.170000	NM_002016			657	641		2004	1948	1		1	0		0	0	524	0		1	0	0	0	0	1	0	657	2004
FLG	2312	broad.mit.edu	37	1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	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)			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)			ACGAATGGTGTCCTGACCGTC	0.602									Ichthyosis																													ENST00000368799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(8350-8352)gAc>gGc		filaggrin							416.0	546.0	502.0					1																	152279011		2198	4300	6498	SO:0001583	missense	2312	0	0		Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152279011T>C	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.8351A>G	chr1.hg19:g.152279011T>C	ENSP00000357789:p.Asp2784Gly	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D2784G	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	8386	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.8351A>G	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	9.496	1.101951	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01629	4.72	2.68	-5.36	0.02689	2.68	-5.36	0.02689	.	.	.	.	.	T	0.00695	0.0023	M	0.77820	2.39	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.42378	-0.9455	9	0.44086	T	0.13	8.0E-4	1.9501	0.03364	0.1086:0.2667:0.189:0.4357	.	2784	P20930	FILA_HUMAN	G	2784;46	ENSP00000357789:D2784G	ENSP00000357786:D46G	D	-	2	0	0	FLG	150545635	150545635	0.243000	0.23878	0.000000	0.03702	0.067000	0.16453	-0.243000	0.08915	-1.533000	0.01745	0.254000	0.18369	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1		2	2	2	0		0	0	840		840	897	1	2.060000	-20.000000	1	0.170000	NM_002016			548	532		4403	4241	0		1			0	0	840	0		1	0	0	0	0	0	0	548	4403
FLG	2312	broad.mit.edu	37	1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		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)			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)			TGACCCTGGGTGTCCACGAAT	0.597									Ichthyosis																													ENST00000368799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(5446-5448)cAc>cGc		filaggrin							360.0	364.0	362.0					1																	152281915		2203	4300	6503	SO:0001583	missense	2312	0	0		Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152281915T>C	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.5447A>G	chr1.hg19:g.152281915T>C	ENSP00000357789:p.His1816Arg	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1816R	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	5482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.5447A>G	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340718	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.0	0.302	0.15786	4.0	0.302	0.15786	.	.	.	.	.	T	0.00608	0.0020	M	0.65320	2	0.09310	N	1	P	0.37864	0.61	B	0.37833	0.259	T	0.39881	-0.9592	9	0.05525	T	0.97	.	6.1779	0.20455	0.0:0.3321:0.0:0.6679	.	1816	P20930	FILA_HUMAN	R	1816;51	ENSP00000357789:H1816R	ENSP00000271820:H51R	H	-	2	0	0	FLG	150548539	150548539	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.039000	0.13602	-0.490000	0.04691	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	0		26	2	2	2		2	2	525		525	517	1	2.060000	-20.000000	1	0.170000	NM_002016			704	690		2176	2112	1		1	0		2	0	525	0		1	5.977942e-02	0	0	0	2	0	704	2176
FLG	2312	broad.mit.edu	37	1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	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)			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)			GTCCTGACCCTCTTGGGACGC	0.597									Ichthyosis																													ENST00000368799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(5422-5424)gAg>gGg		filaggrin							330.0	340.0	337.0					1																	152281939		2203	4300	6503	SO:0001583	missense	2312	6	121412	44	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152281939T>C	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.5423A>G	chr1.hg19:g.152281939T>C	ENSP00000357789:p.Glu1808Gly	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1808G	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	5458	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.5423A>G	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467921	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	2.15	-0.104	0.13605	2.15	-0.104	0.13605	.	.	.	.	.	T	0.02380	0.0073	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	D	0.67900	0.954	T	0.41215	-0.9521	9	0.38643	T	0.18	-1.1804	4.4071	0.11414	0.0:0.5757:0.0:0.4243	.	1808	P20930	FILA_HUMAN	G	1808;43	ENSP00000357789:E1808G	ENSP00000271820:E43G	E	-	2	0	0	FLG	150548563	150548563	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.205000	0.09411	-0.012000	0.14223	0.378000	0.23410	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	0		19	2	2	1		1	1	496		496	488	1	2.060000	-20.000000	1	0.170000	NM_002016			465	456		2302	2234	1		1			1	0	496	0		1	0	0	0	0	0	0	465	2302
FLG	2312	broad.mit.edu	37	1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	517	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)			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)			GGGTGTCCACGAATGGTGTCC	0.602									Ichthyosis																													ENST00000368799.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(1549-1551)Cgt>Tgt		filaggrin							349.0	346.0	347.0					1																	152285813		2203	4298	6501	SO:0001583	missense	2312	0	0		Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152285813G>A	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.1549C>T	chr1.hg19:g.152285813G>A	ENSP00000357789:p.Arg517Cys	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R517C	NM_002016.1	NP_002007.1	1	2	3	2.190011	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	1584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.1549C>T	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	9.810	1.182872	0.21870	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.91	-0.649	0.11461	2.91	-0.649	0.11461	.	.	.	.	.	T	0.02494	0.0076	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39981	-0.9587	9	0.56958	D	0.05	.	1.2341	0.01949	0.1416:0.2215:0.4109:0.2261	.	517	P20930	FILA_HUMAN	C	517;49	ENSP00000357789:R517C	ENSP00000357789:R517C	R	-	1	0	0	FLG	150552437	150552437	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.100000	0.17581	0.603000	0.83216	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1		2	2	2	1		1	0	496		496	489	1	2.060000	-20.000000	1	0.170000	NM_002016			692	672		2072	2016	1		1			1	0	496	0		1	0	0	0	0	0	0	692	2072
FLG2	388698	broad.mit.edu	37	1	152323365	152323365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2299					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)			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)			CTCCTGTCTGTCCATGAGTAG	0.478																																						ENST00000388718.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(6895-6897)ggA>ggG		filaggrin family member 2							305.0	275.0	285.0					1																	152323365		2203	4300	6503	SO:0001819	synonymous_variant	388698	0	0					g.chr1:152323365T>C	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.6897A>G	chr1.hg19:g.152323365T>C		1					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G2299G	NM_001014342.2	NP_001014364.1	1	2	3	2.190011	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	6969	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q9H4U1	Silent	SNP	ENST00000388718.5	1	1	hg19	c.6897A>G	CCDS30861.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1		2	2	2	0		0	0	269		269	264	1	2.060000	-20.000000	1	0.170000	NM_001014342			270	263		1266	1225	1		1			0	0	269	0		1	0	0	0	0	0	0	270	1266
FLG2	388698	broad.mit.edu	37	1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2234					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)			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)			ATAACCATAGTGGGCATGTCT	0.542																																						ENST00000388718.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(6700-6702)cAc>cGc		filaggrin family member 2							411.0	375.0	387.0					1																	152323561		2203	4300	6503	SO:0001583	missense	388698	0	0					g.chr1:152323561T>C	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.6701A>G	chr1.hg19:g.152323561T>C	ENSP00000373370:p.His2234Arg	1					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H2234R	NM_001014342.2	NP_001014364.1	1	2	3	2.190011	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	6773	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	1	1	hg19	c.6701A>G	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	5.866	0.343922	0.11126	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.52	-0.349	0.12609	3.52	-0.349	0.12609	.	.	.	.	.	T	0.02533	0.0077	L	0.46157	1.445	0.09310	N	1	D	0.62365	0.991	D	0.65773	0.938	T	0.37267	-0.9713	9	0.19147	T	0.46	3.5718	2.6873	0.05111	0.1937:0.226:0.0:0.5803	.	2234	Q5D862	FILA2_HUMAN	R	2234	ENSP00000373370:H2234R	ENSP00000373370:H2234R	H	-	2	0	0	FLG2	150590185	150590185	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.973000	0.01500	-0.055000	0.13244	0.450000	0.29827	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1		2	2	2	0		0	0	468		468	464	1	2.060000	-20.000000	1	0.170000	NM_001014342			392	387		1945	1905	1		1			0	0	468	0		1	0	0	0	0	0	0	392	1945
FLG2	388698	broad.mit.edu	37	1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681					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)			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)			GACTGTCCATGTTGAGATCCA	0.478																																						ENST00000388718.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(5041-5043)Cat>Tat		filaggrin family member 2							444.0	385.0	405.0					1																	152325221		2203	4300	6503	SO:0001583	missense	388698	0	0					g.chr1:152325221G>A	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.5041C>T	chr1.hg19:g.152325221G>A	ENSP00000373370:p.His1681Tyr	1					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1681Y	NM_001014342.2	NP_001014364.1	1	2	3	2.190011	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	5113	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	1	1	hg19	c.5041C>T	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195910	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.69	2.73	0.32206	3.69	2.73	0.32206	.	.	.	.	.	T	0.02418	0.0074	M	0.72118	2.19	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.14924	-1.0455	9	0.02654	T	1	2.4938	8.3613	0.32361	0.0:0.0:0.7652:0.2348	.	1681	Q5D862	FILA2_HUMAN	Y	1681	ENSP00000373370:H1681Y	ENSP00000373370:H1681Y	H	-	1	0	0	FLG2	150591845	150591845	.	.	0.002000	0.10522	0.066000	0.16364	.	.	0.858000	0.35431	0.456000	0.33151	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1		2	2	2	0		0	0	378		378	375	1	2.060000	-2.806943	1	0.170000	NM_001014342			305	299		1540	1504	1		1			0	0	378	0		1	0	0	0	0	0	0	305	1540
FLG2	388698	broad.mit.edu	37	1	152327349	152327349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	971	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)			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)			CAAAGCCAGAGGACTGACCTG	0.488																																						ENST00000388718.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(2911-2913)tcC>tcT		filaggrin family member 2							265.0	267.0	266.0					1																	152327349		2203	4300	6503	SO:0001819	synonymous_variant	388698	0	0					g.chr1:152327349G>A	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.2913C>T	chr1.hg19:g.152327349G>A		1					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S971S	NM_001014342.2	NP_001014364.1	1	2	3	2.190011	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	2985	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q9H4U1	Silent	SNP	ENST00000388718.5	1	0	hg19	c.2913C>T	CCDS30861.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1		2	2	2	0		0	0	443		443	439	1	2.060000	-20.000000	1	0.170000	NM_001014342			349	340		1634	1577	1		1			0	0	443	0		1	0	0	0	0	0	0	349	1634
FLG2	388698	broad.mit.edu	37	1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	227	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)			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)			GTTTGATCCAGATCCAGATTC	0.433																																						ENST00000388718.5	1.000000	0.920000	1	9.900000e-01	0.990000	0.995222	0.990000	1.000000																										0				188						c.(679-681)tCt>tAt		filaggrin family member 2							212.0	217.0	215.0					1																	152329582		2203	4300	6503	SO:0001583	missense	388698	0	0					g.chr1:152329582G>T	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.680C>A	chr1.hg19:g.152329582G>T	ENSP00000373370:p.Ser227Tyr	1					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S227Y	NM_001014342.2	NP_001014364.1	1	2	3	2.190011	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	752	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	1	1	hg19	c.680C>A	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021952	0.02061	.	.	ENSG00000143520	ENST00000388718	T	0.00695	5.83	5.19	1.15	0.20763	5.19	1.15	0.20763	.	.	.	.	.	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.40496	-0.9560	9	0.44086	T	0.13	-0.1609	3.5397	0.07807	0.0825:0.146:0.4701:0.3015	.	227	Q5D862	FILA2_HUMAN	Y	227	ENSP00000373370:S227Y	ENSP00000373370:S227Y	S	-	2	0	0	FLG2	150596206	150596206	0.048000	0.20356	0.008000	0.14137	0.129000	0.20672	0.751000	0.26348	0.054000	0.16065	-0.156000	0.13503	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1		2	2	2	0		0	0	251		251	246	1	2.060000	-20.000000	1	0.170000	NM_001014342			114	112		1188	1157	0		1			0	0	251	0		1	0	0	0	0	0	0	114	1188
CRNN	49860	broad.mit.edu	37	1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	371	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592																																						ENST00000271835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1111-1113)gCt>gAt		cornulin							180.0	152.0	162.0					1																	152382446		2203	4300	6503	SO:0001583	missense	49860	0	0					g.chr1:152382446G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1112C>A	chr1.hg19:g.152382446G>T	ENSP00000271835:p.Ala371Asp	1					RP1-91G5.3_ENST00000411804.1_RNA	p.A371D	NM_016190.2	NP_057274.1	1	2	3	2.190011	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	1174	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	1	1	hg19	c.1112C>A	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851255	0.17034	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.41	0.178	0.15058	4.41	0.178	0.15058	.	0.979395	0.08353	N	0.958954	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.49123	-0.8972	10	0.14656	T	0.56	.	3.5545	0.07860	0.1941:0.0:0.4613:0.3446	.	371	Q9UBG3	CRNN_HUMAN	D	371	ENSP00000271835:A371D	ENSP00000271835:A371D	A	-	2	0	0	CRNN	150649070	150649070	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.067000	0.14510	-0.049000	0.13379	-0.237000	0.12165	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_016190			202	198		891	862	1		1			0	0	143	0		1	0	0	0	0	0	0	202	891
CRNN	49860	broad.mit.edu	37	1	152383288	152383288	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	90					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562																																						ENST00000271835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(268-270)agC>agT		cornulin							96.0	107.0	103.0					1																	152383288		2203	4300	6503	SO:0001819	synonymous_variant	49860	0	0					g.chr1:152383288G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.270C>T	chr1.hg19:g.152383288G>A		1					RP1-91G5.3_ENST00000411804.1_RNA	p.S90S	NM_016190.2	NP_057274.1	1	2	3	2.190011	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	332	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	1	1	hg19	c.270C>T	CCDS1010.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	1	0	1		2	2	2	0		0	0	231		231	227	1	2.060000	-20.000000	1	0.170000	NM_016190			169	164		1189	1164	1		1			0	0	231	0		1	0	0	0	0	0	0	169	1189
LCE5A	254910	broad.mit.edu	37	1	152484304	152484304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152484304C>A	ENST00000334269.2	+	2	470	c.294C>A	c.(292-294)ggC>ggA	p.G98G	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	98	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGGGGCTCCAGCTGCT	0.682																																						ENST00000334269.2	0.670000	0.220000	5.400000e-01	3.000000e-01	0.410000	0.430684	0.410000	0.390000																										0				7						c.(292-294)ggC>ggA		late cornified envelope 5A							15.0	19.0	17.0					1																	152484304		2155	4243	6398	SO:0001819	synonymous_variant	254910	0	0					g.chr1:152484304C>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.294C>A	chr1.hg19:g.152484304C>A		1					CRCT1_ENST00000368790.3_5'Flank	p.G98G	NM_178438.4	NP_848525.1	1	2	3	2.190011	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	470	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Silent	SNP	ENST00000334269.2	0	1	hg19	c.294C>A	CCDS1011.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	0	0	1		2	2	2	0		0	0	63		63	60	1	2.060000	-12.415850	1	0.170000	NM_178438			12	12		368	361	0		1	0		0	0	63	0		9.990471e-01	0	0	0	0	1	0	12	368
LCE3A	353142	broad.mit.edu	37	1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	46					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657																																						ENST00000335674.1	1.000000	0.590000	9.800000e-01	7.000000e-01	0.830000	0.839382	0.830000	1.000000																										0				6						c.(136-138)aGc>aAc		late cornified envelope 3A							48.0	51.0	50.0					1																	152595443		2203	4300	6503	SO:0001583	missense	353142	0	0					g.chr1:152595443C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.137G>A	chr1.hg19:g.152595443C>T	ENSP00000335006:p.Ser46Asn	1						p.S46N	NM_178431.1	NP_848518.1	1	2	3	2.190011	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	1	136	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000335674.1	1	1	hg19	c.137G>A	CCDS1017.1	0	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022189	0.07634	.	.	ENSG00000185962	ENST00000335674	T	0.04015	3.73	3.61	3.61	0.41365	3.61	3.61	0.41365	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.24269	0.052	T	0.40831	-0.9542	8	0.62326	D	0.03	.	10.9218	0.47169	0.0:1.0:0.0:0.0	.	46	Q5TA76	LCE3A_HUMAN	N	46	ENSP00000335006:S46N	ENSP00000335006:S46N	S	-	2	0	0	LCE3A	150862067	150862067	0.724000	0.28038	0.059000	0.19551	0.012000	0.07955	1.084000	0.30828	2.002000	0.58637	0.650000	0.86243	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_178431			35	34		500	491	0		1			0	0	67	0		1	0	0	0	0	0	0	35	500
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000606109.1	+	1	610	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000368773.1_Silent_p.Q194Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)			GTGGCCCCCAGTTTCAGTCAA	0.547																																						ENST00000606109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(580-582)caG>caA		keratinocyte proline-rich protein							150.0	147.0	148.0					1																	152732646		2203	4300	6503	SO:0001819	synonymous_variant	448834	0	0					g.chr1:152732646G>A	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.582G>A	chr1.hg19:g.152732646G>A		1					KPRP_ENST00000368773.1_Silent_p.Q194Q	p.Q194Q			1	2	3	2.190011	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	1	610	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Silent	SNP	ENST00000606109.1	1	1	hg19	c.582G>A	CCDS30862.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	1	0	1		2	2	2	0		0	0	179		179	175	1	2.060000	-20.000000	1	0.170000	NM_001025231			215	209		586	574	0		1			0	0	179	0		1	0	0	0	0	0	0	215	586
KPRP	448834	broad.mit.edu	37	1	152733397	152733397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152733397C>T	ENST00000606109.1	+	1	1361	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KPRP_ENST00000368773.1_Missense_Mutation_p.R445W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)			TCCAACACCGCGGCCAGTTCC	0.582																																						ENST00000606109.1	0.380000	0.150000	3.200000e-01	1.900000e-01	0.250000	0.264399	0.250000	0.250000																										0				60						c.(1333-1335)Cgg>Tgg		keratinocyte proline-rich protein							172.0	173.0	173.0					1																	152733397		2203	4300	6503	SO:0001583	missense	448834	2	121412	38				g.chr1:152733397C>T	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.1333C>T	chr1.hg19:g.152733397C>T	ENSP00000475216:p.Arg445Trp	1					KPRP_ENST00000368773.1_Missense_Mutation_p.R445W	p.R445W			1	2	3	2.190011	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	1	1361	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000606109.1	0	1	hg19	c.1333C>T	CCDS30862.1	0	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313134	0.10789	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	1.66	-3.18	0.05186	1.66	-3.18	0.05186	.	0.339830	0.21778	N	0.069258	T	0.02193	0.0068	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36138	-0.9760	10	0.48119	T	0.1	-4.7283	4.4444	0.11589	0.0:0.287:0.1788:0.5342	.	445	Q5T749	KPRP_HUMAN	W	445	ENSP00000357762:R445W	ENSP00000357762:R445W	R	+	1	2	2	KPRP	151000021	151000021	0.049000	0.20398	0.008000	0.14137	0.028000	0.11728	0.165000	0.16564	-1.060000	0.03189	-0.448000	0.05591	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-2.790703	1	0.170000	NM_001025231			18	17		894	873	0		1			0	0	143	0		9.999768e-01	0	0	0	0	0	0	18	894
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						ENST00000334371.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(247-249)Cgt>Agt		late cornified envelope 1F							22.0	26.0	24.0					1																	152749094		2203	4298	6501	SO:0001583	missense	353137	0	0					g.chr1:152749094C>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>A	chr1.hg19:g.152749094C>A	ENSP00000334187:p.Arg83Ser	1						p.R83S	NM_178354.2	NP_848131.1	1	2	3	2.190011	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	1	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000334371.2	1	1	hg19	c.247C>A	CCDS1023.1	1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885064	0.17540	.	.	ENSG00000240386	ENST00000334371	T	0.04119	3.7	4.45	3.46	0.39613	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.02533	0.0077	M	0.65498	2.005	0.22468	N	0.999073	P	0.38455	0.632	B	0.32805	0.153	T	0.24870	-1.0148	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	S	83	ENSP00000334187:R83S	ENSP00000334187:R83S	R	+	1	0	0	LCE1F	151015718	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_178354			109	105		275	272	0		1			0	0	50	0		1	0	0	0	0	0	0	109	275
LCE1D	353134	broad.mit.edu	37	1	152770357	152770357	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657																																						ENST00000326233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(85-87)tgT>tgC		late cornified envelope 1D							45.0	45.0	45.0					1																	152770357		2099	3880	5979	SO:0001819	synonymous_variant	353134	0	0					g.chr1:152770357T>C		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.87T>C	chr1.hg19:g.152770357T>C		1						p.C29C	NM_178352.2	NP_848129.1	1	2	3	2.190011	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	130	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Silent	SNP	ENST00000326233.6	1	1	hg19	c.87T>C	CCDS1025.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-8.746392	1	0.170000	NM_178352			97	94		221	216	0		1			0	0	64	0		1	0	0	0	0	0	0	97	221
LCE1D	353134	broad.mit.edu	37	1	152770417	152770417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	49	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672																																						ENST00000326233.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(145-147)ggC>ggA		late cornified envelope 1D							31.0	31.0	31.0					1																	152770417		2159	4152	6311	SO:0001819	synonymous_variant	353134	0	0					g.chr1:152770417C>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.147C>A	chr1.hg19:g.152770417C>A		1						p.G49G	NM_178352.2	NP_848129.1	1	2	3	2.190011	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	2	190	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Silent	SNP	ENST00000326233.6	1	1	hg19	c.147C>A	CCDS1025.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	1	0	0		2	2	2	0		0	0	64		64	67	1	2.060000	-20.000000	1	0.170000	NM_178352			108	108		221	218	0		1			0	0	64	0		1	0	0	0	0	0	0	108	221
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	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)			TGGGACCTACGGCGCCTGTGG	0.701																																						ENST00000607093.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(247-249)Cgt>Tgt		late cornified envelope 1C							28.0	36.0	33.0					1																	152777708		2201	4286	6487	SO:0001583	missense	353133	2	121372	33				g.chr1:152777708G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.247C>T	chr1.hg19:g.152777708G>A	ENSP00000475270:p.Arg83Cys	1					LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C	p.R83C			1	2	3	2.190011	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	1	246	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000607093.1	1	1	hg19	c.247C>T	CCDS1026.1	1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	0	LCE1C	151044332	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	1	0	1		2	2	2	0		0	0	82		82	84	1	2.060000	-3.147949	1	0.170000	NM_178351			98	94		502	488	1		1			0	0	82	0		1	0	0	0	0	0	0	98	502
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000607093.1	-	1	72	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	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)			tttggggTGgggcacttggga	0.637																																						ENST00000607093.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(73-75)Ccc>Tcc		late cornified envelope 1C							43.0	44.0	44.0					1																	152777882		2203	4300	6503	SO:0001583	missense	353133	2	121406	32				g.chr1:152777882G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.73C>T	chr1.hg19:g.152777882G>A	ENSP00000475270:p.Pro25Ser	1					LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S	p.P25S			1	2	3	2.190011	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	1	72	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000607093.1	1	1	hg19	c.73C>T	CCDS1026.1	1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968345	0.02232	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	3.53	-0.578	0.11724	3.53	-0.578	0.11724	.	.	.	.	.	T	0.01489	0.0048	M	0.68952	2.095	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	9	0.87932	D	0	.	3.3399	0.07115	0.3664:0.2056:0.428:0.0	.	25	Q5T751	LCE1C_HUMAN	S	25	ENSP00000357757:P25S	ENSP00000357757:P25S	P	-	1	0	0	LCE1C	151044506	151044506	0.872000	0.30054	0.035000	0.18076	0.093000	0.18481	2.296000	0.43584	0.008000	0.14787	-0.150000	0.13652	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_178351			109	103		305	291	1		1			0	0	71	0		1	0	0	0	0	0	0	109	305
IVL	3713	broad.mit.edu	37	1	152883822	152883822	+	Missense_Mutation	SNP	G	G	C	rs201247184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	ENST00000368764.3	+	2	1613	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_ENST00000392667.2_Missense_Mutation_p.D371H			P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agagcagcaggacggacaact	0.607																																						ENST00000368764.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1549-1551)Gac>Cac		involucrin							92.0	85.0	88.0					1																	152883822		2203	4299	6502	SO:0001583	missense	3713	0	0					g.chr1:152883822G>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1549G>C	chr1.hg19:g.152883822G>C	ENSP00000357753:p.Asp517His	1					IVL_ENST00000392667.2_Missense_Mutation_p.D371H	p.D517H			1	2	3	2.190011	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	1613	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	1	1	hg19	c.1549G>C	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732617	0.30684	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.03;2.86	3.39	3.39	0.38822	3.39	3.39	0.38822	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.57009	0.811	T	0.36383	-0.9750	9	0.59425	D	0.04	.	10.9889	0.47539	0.0:0.0:1.0:0.0	.	517	P07476	INVO_HUMAN	H	517;371	ENSP00000357753:D517H;ENSP00000376435:D371H	ENSP00000357753:D517H	D	+	1	0	0	IVL	151150446	151150446	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	-0.443000	0.06862	1.853000	0.53794	0.563000	0.77884	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_005547			26	27		70	67	1		1			0	0	15	0		1	0	0	0	0	0	0	26	70
SPRR2A	6700	broad.mit.edu	37	1	153029119	153029119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	ENST00000392653.2	-	2	178	c.93G>T	c.(91-93)aaG>aaT	p.K31N		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	31	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCAGGGCACTTCGGGGGTG	0.622																																						ENST00000392653.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(91-93)aaG>aaT		small proline-rich protein 2A							54.0	52.0	53.0					1																	153029119		2202	4278	6480	SO:0001583	missense	6700	0	0					g.chr1:153029119C>A	X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.93G>T	chr1.hg19:g.153029119C>A	ENSP00000376423:p.Lys31Asn	1						p.K31N	NM_005988.2	NP_005979.1	1	2	3	2.190011	P35326	SPR2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	178	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	0	1	hg19	c.93G>T	CCDS1034.1	1	.	.	.	.	.	.	.	.	.	.	C	5.037	0.192582	0.09599	.	.	ENSG00000241794	ENST00000392653	T	0.44482	0.92	2.79	-3.06	0.05379	2.79	-3.06	0.05379	.	0.000000	0.37136	N	0.002230	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.30855	0.121	T	0.31586	-0.9938	9	0.87932	D	0	.	8.3444	0.32263	0.0:0.7873:0.0:0.2127	.	31	P35326	SPR2A_HUMAN	N	31	ENSP00000376423:K31N	ENSP00000376423:K31N	K	-	3	2	2	SPRR2A	151295743	151295743	0.005000	0.15991	0.009000	0.14445	0.119000	0.20118	-1.132000	0.03235	-0.916000	0.03818	-0.498000	0.04607	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	0	0	1		2	2	2	0		0	0	93		93	179	1	2.060000	-20.000000	1	0.170000	NM_005988			144	105		450	319	0		1			0	0	93	0		1	0	0	0	0	0	0	144	450
SPRR2G	6706	broad.mit.edu	37	1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562																																						ENST00000368748.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(37-39)caG>caT		small proline-rich protein 2G							113.0	91.0	99.0					1																	153122548		2203	4300	6503	SO:0001583	missense	6706	0	0					g.chr1:153122548C>A	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.39G>T	chr1.hg19:g.153122548C>A	ENSP00000357737:p.Gln13His	1						p.Q13H	NM_001014291.3	NP_001014313.1	1	2	3	2.190011	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	77	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)			Missense_Mutation	SNP	ENST00000368748.4	1	1	hg19	c.39G>T	CCDS30868.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235718	0.22626	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.40476	1.03	5.36	-1.17	0.09648	5.36	-1.17	0.09648	.	0.258337	0.20535	N	0.090431	T	0.11239	0.0274	.	.	.	0.22317	N	0.999202	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	9	0.87932	D	0	-5.5941	3.6824	0.08316	0.2683:0.4183:0.0:0.3134	.	13	Q9BYE4	SPR2G_HUMAN	H	13	ENSP00000357737:Q13H	ENSP00000357737:Q13H	Q	-	3	2	2	SPRR2G	151389172	151389172	0.008000	0.16893	0.751000	0.31187	0.738000	0.42128	-1.227000	0.02950	-0.105000	0.12132	-0.208000	0.12717	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000				91	88		563	540	1		1			0	0	111	0		1	0	0	0	0	0	0	91	563
PGLYRP3	114771	broad.mit.edu	37	1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	26					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)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627																																						ENST00000290722.1	1.000000	0.490000	1	7.400000e-01	0.990000	0.907922	0.990000	1.000000																										0				28						c.(76-78)cGc>cAc		peptidoglycan recognition protein 3							36.0	35.0	35.0					1																	153279722		2203	4300	6503	SO:0001583	missense	114771	3	121310	32				g.chr1:153279722C>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.77G>A	chr1.hg19:g.153279722C>T	ENSP00000290722:p.Arg26His	1						p.R26H	NM_052891.1	NP_443123.1	1	2	3	2.190011	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	129	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	0	1	hg19	c.77G>A	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639998	0.47153	.	.	ENSG00000159527	ENST00000290722	T	0.57436	0.4	4.21	3.27	0.37495	4.21	3.27	0.37495	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.172267	0.25906	N	0.027534	T	0.27205	0.0667	L	0.60455	1.87	0.24925	N	0.991952	P	0.47191	0.891	B	0.36289	0.221	T	0.09079	-1.0691	10	0.87932	D	0	-13.0525	10.0377	0.42139	0.0:0.7946:0.2054:0.0	.	26	Q96LB9	PGRP3_HUMAN	H	26	ENSP00000290722:R26H	ENSP00000290722:R26H	R	-	2	0	0	PGLYRP3	151546346	151546346	0.310000	0.24527	0.967000	0.41034	0.072000	0.16883	1.119000	0.31258	1.086000	0.41228	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-11.951210	1	0.170000	NM_052891			7	7		79	78	0		1	0		0	0	14	0		9.813275e-01	0	0	0	0	1	0	7	79
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					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)			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)			GACCAGCAGGCGGCACTCATC	0.542																																						ENST00000359650.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(757-759)cGc>cAc		peptidoglycan recognition protein 4							101.0	97.0	99.0					1																	153312923		2203	4300	6503	SO:0001583	missense	57115	0	0					g.chr1:153312923C>T	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.758G>A	chr1.hg19:g.153312923C>T	ENSP00000352672:p.Arg253His	1					PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	p.R253H	NM_020393.2	NP_065126.2	1	2	3	2.190011	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	7	822	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	1	1	hg19	c.758G>A	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	0	PGLYRP4	151579547	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	1	0	1		16	2	2	1		1	1	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_020393			100	98		334	327	1		1			1	0	95	0		1	0	0	0	0	0	0	100	334
PGLYRP4	57115	broad.mit.edu	37	1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000359650.5	-	6	678	c.614G>T	c.(613-615)aGc>aTc	p.S205I	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S201I	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	205					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)			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)			CTTCTTCAGGCTTGTCTTCTG	0.537																																						ENST00000359650.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(613-615)aGc>aTc		peptidoglycan recognition protein 4							108.0	102.0	105.0					1																	153314114		2203	4300	6503	SO:0001583	missense	57115	0	0					g.chr1:153314114C>A	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.614G>T	chr1.hg19:g.153314114C>A	ENSP00000352672:p.Ser205Ile	1					PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S201I	p.S205I	NM_020393.2	NP_065126.2	1	2	3	2.190011	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	6	678	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	1	1	hg19	c.614G>T	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881545	0.17467	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23552	1.9;1.9	4.2	-1.28	0.09318	4.2	-1.28	0.09318	N-acetylmuramoyl-L-alanine amidase domain (4);	0.745300	0.12522	N	0.461528	T	0.04182	0.0116	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16722	0.005;0.016	T	0.41052	-0.9530	10	0.21014	T	0.42	-38.0861	0.9165	0.01305	0.4022:0.2713:0.1759:0.1507	.	201;205	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	I	201;205	ENSP00000357728:S201I;ENSP00000352672:S205I	ENSP00000352672:S205I	S	-	2	0	0	PGLYRP4	151580738	151580738	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.601000	0.02081	-0.042000	0.13535	0.591000	0.81541	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_020393			95	93		561	547	1		1	0		0	0	115	0		1	0	0	0	0	1	0	95	561
S100A7A	338324	broad.mit.edu	37	1	153391710	153391710	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153391710C>A	ENST00000368729.4	+	3	288	c.231C>A	c.(229-231)tcC>tcA	p.S77S	S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	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)			AGTTTCTGTCCTTGCTGGGAG	0.517																																						ENST00000368729.4	0.690000	0.250000	5.700000e-01	3.300000e-01	0.440000	0.461046	0.440000	0.430000																										0				12						c.(229-231)tcC>tcA		S100 calcium binding protein A7A							96.0	88.0	91.0					1																	153391710		2203	4300	6503	SO:0001819	synonymous_variant	338324	0	0					g.chr1:153391710C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.231C>A	chr1.hg19:g.153391710C>A		1					S100A7A_ENST00000329256.2_Silent_p.S77S|S100A7A_ENST00000368728.2_Silent_p.S77S	p.S77S	NM_176823.3	NP_789793.1	1	2	3	2.190011	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	288	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	0	1	hg19	c.231C>A	CCDS30872.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	0	0	1		20	2	2	1		1	1	62		62	62	1	2.060000	-2.899154	1	0.170000	NM_176823			14	14		396	379	0		0			1	0	62	0		1.563873e-01	0	0	0	0	0	0	14	396
S100A4	6275	broad.mit.edu	37	1	153516359	153516359	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153516359T>C	ENST00000368716.4	-	3	329	c.182A>G	c.(181-183)aAc>aGc	p.N61S	S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GCTGTCCAAGTTGCTCATCAG	0.507																																						ENST00000368716.4	0.300000	0.110000	2.500000e-01	1.500000e-01	0.190000	0.207237	0.190000	0.210000																										0				4						c.(181-183)aAc>aGc		S100 calcium binding protein A4	Trifluoperazine(DB00831)						233.0	210.0	218.0					1																	153516359		2203	4300	6503	SO:0001583	missense	6275	0	0					g.chr1:153516359T>C	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.182A>G	chr1.hg19:g.153516359T>C	ENSP00000357705:p.Asn61Ser	1					S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S	p.N61S	NM_002961.2	NP_002952.1	1	2	3	2.190011	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	329	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	0	1	hg19	c.182A>G	CCDS1042.1	0	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674686	0.47781	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.75	3.54	0.40534	4.75	3.54	0.40534	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.174333	0.49305	D	0.000145	T	0.03178	0.0093	N	0.24115	0.695	0.36332	D	0.858924	B	0.02656	0.0	B	0.08055	0.003	T	0.26052	-1.0114	10	0.32370	T	0.25	.	7.7901	0.29114	0.0:0.0:0.2123:0.7876	.	61	P26447	S10A4_HUMAN	S	61;61;61;61;50	ENSP00000357704:N61S;ENSP00000346294:N61S;ENSP00000357705:N61S;ENSP00000357703:N61S	ENSP00000346294:N61S	N	-	2	0	0	S100A4	151782983	151782983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.113000	0.50376	1.788000	0.52465	0.459000	0.35465	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	0	0	1		2	2	2	0		0	0	220		220	219	1	2.060000	-10.948550	1	0.170000	NM_002961			18	19		1147	1130	0		1	1		0	0	220	0		9.999786e-01	9.999997e-01	0	21	0	1760	0	18	1147
S100A13	6284	broad.mit.edu	37	1	153598820	153598820	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000392623.1	-	2	319	c.129C>T	c.(127-129)acC>acT	p.T43T	RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000368699.1_Silent_p.T43T|S100A1_ENST00000368696.3_5'Flank|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Silent_p.T43T|S100A1_ENST00000292169.1_5'Flank|S100A13_ENST00000339556.4_Silent_p.T43T	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	43	EF-hand.				cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCAACTGCTGGGTAACCAGCT	0.527																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000392623.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(127-129)acC>acT		S100 calcium binding protein A13	Amlexanox(DB01025)|Olopatadine(DB00768)						223.0	216.0	218.0					1																	153598820		2203	4300	6503	SO:0001819	synonymous_variant	6284	0	0					g.chr1:153598820G>A	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.129C>T	chr1.hg19:g.153598820G>A		1					S100A13_ENST00000339556.4_Silent_p.T43T|S100A13_ENST00000440685.2_Silent_p.T43T|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000368699.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_5'Flank|S100A1_ENST00000292169.1_5'Flank	p.T43T	NM_001024212.1	NP_001019383.1	1	2	3	2.190011	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	2	319	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q52PI9|Q6FGF8	Silent	SNP	ENST00000392623.1	1	1	hg19	c.129C>T	CCDS30874.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	1	0	1		2	2	2	0		0	0	299		299	296	1	2.060000	-2.967821	1	0.170000	NM_005979			235	229		1144	1116	1		1	1		0	0	299	0		1	1	0	151	0	859	0	235	1144
ILF2	3608	broad.mit.edu	37	1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	27	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388																																						ENST00000361891.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(79-81)Gta>Ata		interleukin enhancer binding factor 2							139.0	125.0	129.0					1																	153642341		2203	4300	6503	SO:0001583	missense	3608	0	0					g.chr1:153642341C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.79G>A	chr1.hg19:g.153642341C>T	ENSP00000355011:p.Val27Ile	1					ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	1	2	3	2.190011	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	3	204	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	1	1	hg19	c.79G>A	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945391	0.53079	.	.	ENSG00000143621	ENST00000361891;ENST00000368681	T	0.45276	0.9	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25332	0.735	0.80722	D	1	B;B	0.33748	0.423;0.298	B;B	0.35859	0.212;0.105	T	0.04915	-1.0918	10	0.24483	T	0.36	-3.085	11.8081	0.52167	0.0:1.0:0.0:0.0	.	27;27	F4ZW62;Q12905	.;ILF2_HUMAN	I	27	ENSP00000355011:V27I	ENSP00000355011:V27I	V	-	1	0	0	ILF2	151908965	151908965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.031000	0.70911	2.163000	0.67991	0.561000	0.74099	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004515			63	58		337	330	1		1	1		0	0	89	0		1	1	0	57	0	337	0	63	337
NPR1	4881	broad.mit.edu	37	1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	499					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1495-1497)Ctg>Atg		natriuretic peptide receptor 1	Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						79.0	76.0	77.0					1																	153657450		2203	4300	6503	SO:0001583	missense	4881	0	0					g.chr1:153657450C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1495C>A	chr1.hg19:g.153657450C>A	ENSP00000357669:p.Leu499Met	1						p.L499M	NM_000906.3	NP_000897.3	1	2	3	2.190011	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	8	1967	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	1	1	hg19	c.1495C>A	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512980	0.64522	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83914	-1.78	4.86	3.96	0.45880	4.86	3.96	0.45880	.	0.000000	0.53938	D	0.000048	D	0.87637	0.6227	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.87090	0.2172	10	0.38643	T	0.18	.	10.9002	0.47047	0.0:0.9088:0.0:0.0912	.	4;499	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	499;4	ENSP00000357669:L499M	ENSP00000357669:L499M	L	+	1	2	2	NPR1	151924074	151924074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.911000	0.48774	1.282000	0.44496	-0.136000	0.14681	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	1	0	1		2	2	2	0		0	0	99		99	79	1	2.060000	-20.000000	1	0.170000	NM_000906			172	146		426	375	1		1	0		0	0	99	0		1	8.294037e-01	0	0	0	10	0	172	426
INTS3	65123	broad.mit.edu	37	1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000318967.2	+	10	1569	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_ENST00000456435.1_Missense_Mutation_p.R128H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	335					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R334H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498																																						ENST00000318967.2	1.000000	0.760000	1	8.700000e-01	0.990000	0.952145	0.990000	1.000000																										1	Substitution - Missense(1)	p.R334H(1)	large_intestine(1)	38						c.(1000-1002)cGc>cAc		integrator complex subunit 3							203.0	181.0	188.0					1																	153730091		2203	4300	6503	SO:0001583	missense	65123	1	121412	36				g.chr1:153730091G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1001G>A	chr1.hg19:g.153730091G>A	ENSP00000318641:p.Arg334His	1					INTS3_ENST00000456435.1_Missense_Mutation_p.R128H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H	p.R334H	NM_023015.3	NP_075391.3	1	2	3	2.190011	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	10	1569	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	1	1	hg19	c.1001G>A	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.113640	0.94339	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.71581	2.175	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.78314	0.991;0.957;0.872	T	0.76451	-0.2954	9	0.72032	D	0.01	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	128;335;334	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	334;128;334;128	.	ENSP00000318641:R334H	R	+	2	0	0	INTS3	151996715	151996715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.463000	0.83235	0.455000	0.32223	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-12.611540	1	0.170000	NM_023015			57	56		674	662	1		1	1		0	0	134	0		1	9.987016e-01	0	11	0	106	0	57	674
GATAD2B	57459	broad.mit.edu	37	1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1; MBD2- and MBD3-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478																																						ENST00000368655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(529-531)gAa>gCa		GATA zinc finger domain containing 2B							131.0	129.0	130.0					1																	153791334		2203	4300	6503	SO:0001583	missense	57459	0	0					g.chr1:153791334T>G	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.530A>C	chr1.hg19:g.153791334T>G	ENSP00000357644:p.Glu177Ala	1						p.E177A	NM_020699.2	NP_065750.1	1	2	3	2.190011	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	4	773	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	1	1	hg19	c.530A>C	CCDS1054.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.211116	0.95069	.	.	ENSG00000143614	ENST00000368655	T	0.77229	-1.08	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85598	0.1250	10	0.87932	D	0	-8.8656	15.1851	0.72993	0.0:0.0:0.0:1.0	.	177	Q8WXI9	P66B_HUMAN	A	177	ENSP00000357644:E177A	ENSP00000357644:E177A	E	-	2	0	0	GATAD2B	152057958	152057958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.231000	0.72958	0.459000	0.35465	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_020699			110	107		514	499	1		1	1		0	0	105	0		1	9.990671e-01	0	4	0	46	0	110	514
GATAD2B	57459	broad.mit.edu	37	1	153800602	153800602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	74					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463																																						ENST00000368655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(220-222)ggC>ggT		GATA zinc finger domain containing 2B							224.0	190.0	202.0					1																	153800602		2203	4300	6503	SO:0001819	synonymous_variant	57459	0	0					g.chr1:153800602G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.222C>T	chr1.hg19:g.153800602G>A		1						p.G74G	NM_020699.2	NP_065750.1	1	2	3	2.190011	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	2	465	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	1	1	hg19	c.222C>T	CCDS1054.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_020699			154	152		731	712	1		1	1		0	0	139	0		1	9.996313e-01	0	17	0	39	0	154	731
DENND4B	9909	broad.mit.edu	37	1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1355					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597																																						ENST00000361217.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(4063-4065)aCc>aTc		DENN/MADD domain containing 4B							35.0	38.0	37.0					1																	153903473		1956	4136	6092	SO:0001583	missense	9909	0	0					g.chr1:153903473G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4064C>T	chr1.hg19:g.153903473G>A	ENSP00000354597:p.Thr1355Ile	1					DENND4B_ENST00000474386.1_5'UTR	p.T1355I	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	25	4482	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	1	1	hg19	c.4064C>T	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882253	0.33255	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	4.22	0.49857	5.14	4.22	0.49857	.	0.292538	0.36972	N	0.002305	T	0.02267	0.0070	N	0.22421	0.69	0.41915	D	0.990484	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.42905	T	0.14	-17.3562	9.4167	0.38525	0.1661:0.0:0.8339:0.0	.	1355	O75064	DEN4B_HUMAN	I	1355	ENSP00000354597:T1355I	ENSP00000354597:T1355I	T	-	2	0	0	DENND4B	152170097	152170097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	1.364000	0.46038	0.563000	0.77884	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	0		2	2	2	0		0	0	25		25	26	1	2.060000	-20.000000	1	0.170000	XM_375806			33	33		76	74	1		1	1		0	0	25	0		1	1	0	22	0	72	0	33	76
DENND4B	9909	broad.mit.edu	37	1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1348					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587																																						ENST00000361217.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998865	0.990000	1.000000																										0				36						c.(4042-4044)Cgg>Tgg		DENN/MADD domain containing 4B							31.0	34.0	33.0					1																	153903495		1975	4151	6126	SO:0001583	missense	9909	2	120944	25				g.chr1:153903495G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4042C>T	chr1.hg19:g.153903495G>A	ENSP00000354597:p.Arg1348Trp	1					DENND4B_ENST00000474386.1_5'UTR	p.R1348W	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	25	4460	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	1	1	hg19	c.4042C>T	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666975	0.67814	.	.	ENSG00000198837	ENST00000361217	T	0.08370	3.1	5.14	4.23	0.50019	5.14	4.23	0.50019	.	0.120058	0.56097	D	0.000030	T	0.04770	0.0129	L	0.54323	1.7	0.47153	D	0.999338	B	0.11235	0.004	B	0.08055	0.003	T	0.08310	-1.0728	10	0.87932	D	0	-14.5368	12.8832	0.58028	0.0798:0.0:0.9202:0.0	.	1348	O75064	DEN4B_HUMAN	W	1348	ENSP00000354597:R1348W	ENSP00000354597:R1348W	R	-	1	2	2	DENND4B	152170119	152170119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	1.392000	0.46585	0.563000	0.77884	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-3.254652	1	0.170000	XM_375806			15	15		91	91	1		1	1		0	0	23	0		9.999135e-01	9.997273e-01	0	24	0	67	0	15	91
DENND4B	9909	broad.mit.edu	37	1	153903514	153903514	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1341					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGCTGGATCAGGGGTTA	0.572																																						ENST00000361217.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.987468	0.990000	1.000000																										0				36						c.(4021-4023)gaT>gaC		DENN/MADD domain containing 4B							28.0	31.0	30.0					1																	153903514		1995	4165	6160	SO:0001819	synonymous_variant	9909	0	0					g.chr1:153903514A>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4023T>C	chr1.hg19:g.153903514A>G		1					DENND4B_ENST00000474386.1_5'UTR	p.D1341D	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	25	4441	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Silent	SNP	ENST00000361217.4	0	1	hg19	c.4023T>C	CCDS44228.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-18.059460	1	0.170000	XM_375806			11	11		85	84	1		1	1		0	0	18	0		9.985829e-01	9.950034e-01	0	13	0	62	0	11	85
DENND4B	9909	broad.mit.edu	37	1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A	rs369938170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1101					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662																																						ENST00000361217.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3301-3303)Cgg>Tgg		DENN/MADD domain containing 4B		G	TRP/ARG	2,3794		0,2,1896	14.0	16.0	15.0		3301	4.3	1.0	1		15	0,8062		0,0,4031	no	missense	DENND4B	NM_014856.2	101	0,2,5927	AA,AG,GG		0.0,0.0527,0.0169	probably-damaging	1101/1497	153905988	2,11856	1898	4031	5929	SO:0001583	missense	9909	7	119886	37				g.chr1:153905988G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3301C>T	chr1.hg19:g.153905988G>A	ENSP00000354597:p.Arg1101Trp	1					DENND4B_ENST00000474386.1_5'Flank	p.R1101W	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	20	3719	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	1	1	hg19	c.3301C>T	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520513	0.64747	5.27E-4	0.0	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08458	3.18;3.09	5.17	4.26	0.50523	5.17	4.26	0.50523	.	0.604283	0.16522	N	0.210745	T	0.03178	0.0093	N	0.14661	0.345	0.32359	N	0.557483	D	0.69078	0.997	P	0.47603	0.551	T	0.35624	-0.9781	10	0.72032	D	0.01	-25.4046	10.9546	0.47349	0.0877:0.0:0.9123:0.0	.	1101	O75064	DEN4B_HUMAN	W	1101;1112	ENSP00000354597:R1101W;ENSP00000357635:R1112W	ENSP00000354597:R1101W	R	-	1	2	2	DENND4B	152172612	152172612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.929000	0.48916	1.416000	0.47057	0.455000	0.32223	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-4.518011	1	0.170000	XM_375806			49	49		148	142	1		1	1		0	0	23	0		1	9.999938e-01	0	14	0	45	0	49	148
DENND4B	9909	broad.mit.edu	37	1	153907339	153907339	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	890	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632																																						ENST00000361217.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2668-2670)ccC>ccA		DENN/MADD domain containing 4B							62.0	73.0	70.0					1																	153907339		2193	4287	6480	SO:0001819	synonymous_variant	9909	0	0					g.chr1:153907339G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2670C>A	chr1.hg19:g.153907339G>T		1					DENND4B_ENST00000474386.1_5'Flank	p.P890P	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	18	3088	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Silent	SNP	ENST00000361217.4	1	1	hg19	c.2670C>A	CCDS44228.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-2.775934	1	0.170000	XM_375806			103	99		552	543	1		1	1		0	0	105	0		1	9.999092e-01	0	17	0	56	0	103	552
DENND4B	9909	broad.mit.edu	37	1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	781					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637																																						ENST00000361217.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2341-2343)Gcc>Acc		DENN/MADD domain containing 4B							44.0	48.0	47.0					1																	153909116		2130	4229	6359	SO:0001583	missense	9909	1	121126	24				g.chr1:153909116C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2341G>A	chr1.hg19:g.153909116C>T	ENSP00000354597:p.Ala781Thr	1						p.A781T	NM_014856.2	NP_055671.2	1	2	3	2.190011	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	16	2759	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	1	1	hg19	c.2341G>A	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551604	0.45487	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07021	3.24;3.23	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.060224	0.64402	D	0.000002	T	0.01870	0.0059	N	0.13299	0.325	0.37388	D	0.912324	B	0.17852	0.024	B	0.11329	0.006	T	0.40608	-0.9554	10	0.38643	T	0.18	-17.5058	7.0873	0.25264	0.0:0.8157:0.0:0.1843	.	781	O75064	DEN4B_HUMAN	T	781;792	ENSP00000354597:A781T;ENSP00000357635:A792T	ENSP00000354597:A781T	A	-	1	0	0	DENND4B	152175740	152175740	0.181000	0.23161	0.905000	0.35620	0.600000	0.36913	0.651000	0.24873	2.463000	0.83235	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	XM_375806			64	64		129	129	1		1	1		0	0	24	0		1	9.997437e-01	0	11	0	18	0	64	129
CREB3L4	148327	broad.mit.edu	37	1	153945234	153945234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000368601.1_Silent_p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	186					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607																																						ENST00000368607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(556-558)acC>acT		cAMP responsive element binding protein 3-like 4							57.0	52.0	53.0					1																	153945234		2203	4300	6503	SO:0001819	synonymous_variant	148327	0	0					g.chr1:153945234C>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.558C>T	chr1.hg19:g.153945234C>T		1					CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR	p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	1	2	3	2.190011	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	5	824	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		D3DV62|Q5T4L0|Q86YW6	Silent	SNP	ENST00000368607.3	1	1	hg19	c.558C>T	CCDS1056.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	1	0	1		2	2	2	0		0	0	44		44	41	1	2.060000	-20.000000	1	0.170000	NM_130898			40	39		160	155	1		1	1		0	0	44	0		1	9.999999e-01	0	54	0	53	0	40	160
JTB	10899	broad.mit.edu	37	1	153947167	153947167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	143					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478																																						ENST00000271843.4	1.000000	0.850000	1	9.700000e-01	0.990000	0.985267	0.990000	1.000000																										0				10						c.(427-429)atC>atT		jumping translocation breakpoint							146.0	137.0	140.0					1																	153947167		2203	4300	6503	SO:0001819	synonymous_variant	10899	2	121412	38				g.chr1:153947167G>A	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.429C>T	chr1.hg19:g.153947167G>A		1					JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000471173.1_5'Flank|JTB_ENST00000356648.1_Silent_p.I114I	p.I143I	NM_006694.3	NP_006685.1	1	2	3	2.190011	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	5	864	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		O95442|Q6IB19|Q9P0Q4	Silent	SNP	ENST00000271843.4	1	1	hg19	c.429C>T	CCDS1057.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	1	0	1		2	2	2	0		0	0	148		148	144	1	2.060000	-14.927770	1	0.170000	NM_006694			59	56		624	617	0		1	1		0	0	148	0		1	1	0	172	0	1233	0	59	624
RAB13	5872	broad.mit.edu	37	1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	65					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(193-195)Gct>Act		RAB13, member RAS oncogene family							71.0	65.0	67.0					1																	153956050		2203	4300	6503	SO:0001583	missense	5872	0	0					g.chr1:153956050C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.193G>A	chr1.hg19:g.153956050C>T	ENSP00000357564:p.Ala65Thr	1					RAB13_ENST00000462680.1_5'UTR	p.A65T	NM_002870.2	NP_002861.1	1	2	3	2.190011	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	3	308	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	1	1	hg19	c.193G>A	CCDS1058.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.593984	0.96602	.	.	ENSG00000143545	ENST00000368575	D	0.88741	-2.42	5.54	5.54	0.83059	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.96841	0.9618	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	65;65	D3DV69;P51153	.;RAB13_HUMAN	T	65	ENSP00000357564:A65T	ENSP00000357564:A65T	A	-	1	0	0	RAB13	152222674	152222674	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.199000	0.77831	2.890000	0.99128	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.607258	1	0.170000	NM_002870			36	36		147	140	1		1	1		0	0	42	0		1	1	0	224	0	678	0	36	147
RPS27	6232	broad.mit.edu	37	1	153964128	153964128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153964128G>T	ENST00000368567.4	+	3	240	c.202G>T	c.(202-204)Gga>Tga	p.G68*	RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	68					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|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 small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCTACAGGAGGAAAAGC	0.413																																						ENST00000368567.4	0.650000	0.140000	4.900000e-01	2.200000e-01	0.340000	0.365706	0.340000	0.310000																										0				1						c.(202-204)Gga>Tga		ribosomal protein S27							65.0	67.0	67.0					1																	153964128		2203	4300	6503	SO:0001587	stop_gained	6232	0	0					g.chr1:153964128G>T	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.202G>T	chr1.hg19:g.153964128G>T	ENSP00000357555:p.Gly68*	1					RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	p.G68*	NM_001030.4	NP_001021.1	1	2	3	2.190011	P42677	RS27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	3	240	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Q5T4L6	Nonsense_Mutation	SNP	ENST00000368567.4	0	1	hg19	c.202G>T	CCDS1059.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242058	0.79912	.	.	ENSG00000177954	ENST00000368567	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.116646	0.31809	N	0.007037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7422	17.8155	0.88632	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000357555:G68X	G	+	1	0	0	RPS27	152230752	152230752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.456000	0.97628	2.494000	0.84150	0.462000	0.41574	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	0	0	0		2	2	2	0		0	0	46		46	48	1	2.060000	-3.275612	1	0.170000	NM_001030			6	6		233	228	0		1	1		0	0	46	0		9.631916e-01	1	0	321	0	7149	0	6	233
NUP210L	91181	broad.mit.edu	37	1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1531					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			CCCCGGACTCCTGGCCACTCC	0.428																																						ENST00000368559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4591-4593)aGg>aTg		nucleoporin 210kDa-like							90.0	87.0	88.0					1																	153991470		1884	4123	6007	SO:0001583	missense	91181	0	0					g.chr1:153991470C>A	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.4592G>T	chr1.hg19:g.153991470C>A	ENSP00000357547:p.Arg1531Met	1					NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M	p.R1531M	NM_207308.2	NP_997191.2	1	2	3	2.190011	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)	33	4663	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	1	1	hg19	c.4592G>T	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372609	0.82573	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.25579	3.4;1.79;3.13	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.084000	0.48286	D	0.000199	T	0.30510	0.0767	M	0.69358	2.11	0.36448	D	0.865884	D;D	0.76494	0.999;0.999	P;P	0.61328	0.862;0.887	T	0.11372	-1.0590	10	0.33940	T	0.23	-6.8879	9.0841	0.36570	0.0:0.8717:0.0:0.1283	.	1531;1531	E7EP56;Q5VU65	.;P210L_HUMAN	M	1531;464;1531	ENSP00000357547:R1531M;ENSP00000357541:R464M;ENSP00000271854:R1531M	ENSP00000271854:R1531M	R	-	2	0	0	NUP210L	152258094	152258094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.631000	0.89168	0.655000	0.94253	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.237021	1	0.170000	NM_207308			71	70		360	357	1		1		1	0	0	74	754		1	0	1	0	132	0	802	71	360
NUP210L	91181	broad.mit.edu	37	1	153998021	153998021	+	Silent	SNP	G	G	A	rs577952223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000368553.1_Silent_p.V306V|NUP210L_ENST00000271854.3_Silent_p.V1373V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1373					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			AACTCACCTGGACCCCAGTTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15586	0.001		0.0	False		,,,				2504	0.0					ENST00000368559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4117-4119)gtC>gtT		nucleoporin 210kDa-like							139.0	132.0	134.0					1																	153998021		1825	4081	5906	SO:0001819	synonymous_variant	91181	1	120802	39				g.chr1:153998021G>A	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.4119C>T	chr1.hg19:g.153998021G>A		1					NUP210L_ENST00000368553.1_Silent_p.V306V|NUP210L_ENST00000271854.3_Silent_p.V1373V	p.V1373V	NM_207308.2	NP_997191.2	1	2	3	2.190011	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)	30	4190	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	1	1	hg19	c.4119C>T	CCDS41399.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1		2	2	2	0		0	0	185		185	184	1	2.060000	-20.000000	1	0.170000	NM_207308			117	116		654	636	1		1	0	1	0	0	185	372		1	0	1	0	78	1	399	117	654
NUP210L	91181	broad.mit.edu	37	1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H|NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1111					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			GAACGATGGATTGGGGCTGGG	0.458																																						ENST00000368559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3331-3333)caA>caC		nucleoporin 210kDa-like							94.0	91.0	92.0					1																	154026854		1913	4116	6029	SO:0001583	missense	91181	0	0					g.chr1:154026854T>G	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.3333A>C	chr1.hg19:g.154026854T>G	ENSP00000357547:p.Gln1111His	1					NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H|NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H	p.Q1111H	NM_207308.2	NP_997191.2	1	2	3	2.190011	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)	25	3404	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	1	1	hg19	c.3333A>C	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622680	0.66787	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.43688	0.94;0.94;0.94	5.03	-4.47	0.03525	5.03	-4.47	0.03525	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000024	T	0.45776	0.1359	M	0.75447	2.3	0.31872	N	0.619558	D;D	0.76494	0.998;0.999	D;D	0.87578	0.993;0.998	T	0.56111	-0.8033	10	0.49607	T	0.09	-15.7413	13.811	0.63264	0.0:0.5615:0.0:0.4385	.	1111;1111	E7EP56;Q5VU65	.;P210L_HUMAN	H	1111;44;1111	ENSP00000357547:Q1111H;ENSP00000357541:Q44H;ENSP00000271854:Q1111H	ENSP00000271854:Q1111H	Q	-	3	2	2	NUP210L	152293478	152293478	0.006000	0.16342	0.859000	0.33776	0.958000	0.62258	-1.428000	0.02439	-0.754000	0.04715	-0.371000	0.07208	CAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_207308			112	108		325	317	1		1		1	0	0	63	794		1	0	1	0	217	0	673	112	325
NUP210L	91181	broad.mit.edu	37	1	154062023	154062023	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154062023A>C	ENST00000368559.3	-	16	2306	c.2235T>G	c.(2233-2235)agT>agG	p.S745R	NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	745					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			CTACAGCTGGACTAGGGTTCA	0.483																																						ENST00000368559.3	0.470000	0.150000	3.800000e-01	2.100000e-01	0.290000	0.304319	0.290000	0.280000																										0				80						c.(2233-2235)agT>agG		nucleoporin 210kDa-like							113.0	110.0	111.0					1																	154062023		1914	4131	6045	SO:0001583	missense	91181	0	0					g.chr1:154062023A>C	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.2235T>G	chr1.hg19:g.154062023A>C	ENSP00000357547:p.Ser745Arg	1					NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	p.S745R	NM_207308.2	NP_997191.2	1	2	3	2.190011	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)	16	2306	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	0	1	hg19	c.2235T>G	CCDS41399.1	0	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636657	0.67130	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23552	1.9;1.9	4.56	0.898	0.19264	4.56	0.898	0.19264	.	0.206970	0.34338	N	0.004041	T	0.16385	0.0394	L	0.44542	1.39	0.32872	D	0.509353	D;D	0.64830	0.994;0.993	P;P	0.59288	0.829;0.855	T	0.05084	-1.0907	10	0.26408	T	0.33	-25.0072	7.3792	0.26845	0.621:0.0:0.379:0.0	.	745;745	E7EP56;Q5VU65	.;P210L_HUMAN	R	745	ENSP00000357547:S745R;ENSP00000271854:S745R	ENSP00000271854:S745R	S	-	3	2	2	NUP210L	152328647	152328647	0.481000	0.25941	1.000000	0.80357	0.991000	0.79684	0.314000	0.19432	0.278000	0.22164	0.377000	0.23210	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-10.204090	1	0.170000	NM_207308			12	12		528	516	0		1		1	0	0	108	1224		9.990032e-01	0	9.999990e-01	0	21	0	1296	12	528
TPM3	7170	broad.mit.edu	37	1	154142946	154142946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368530.2	-	8	898		c.e8-1		TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000368533.3_Splice_Site|TPM3_ENST00000302206.5_Splice_Site	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGGTCTCTGCCTGGGGGAAAT	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368530.2	0.520000	0.180000	4.300000e-01	2.500000e-01	0.330000	0.346061	0.330000	0.330000				Dom	yes			Dom	yes		1	1q22-q23	1q22-q23	7170	T	tropomyosin 3				"""E, L"""	E, L	NTRK1, ALK, ROS1		papillary thyroid, ALCL, NSCLC	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				11						c.e8-1		tropomyosin 3							70.0	72.0	71.0					1																	154142946		2203	4300	6503	SO:0001630	splice_region_variant	7170	0	0					g.chr1:154142946C>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.706-1G>T	chr1.hg19:g.154142946C>A		1					TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000368533.3_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000302206.5_Splice_Site		NM_152263.2	NP_689476.2	1	2	3	2.190011	P06753	TPM3_HUMAN		8	898	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Splice_Site	SNP	ENST00000368530.2	0	1	hg19		CCDS41403.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107705	0.77096	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	4.7	4.7	0.59300	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1897	0.89803	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TPM3	152409570	152409570	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.601000	0.87937	0.563000	0.77884	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	0	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.056232	1	0.170000	NM_152263	Intron		14	14		534	515	0		1	0		0	0	85	0		9.996905e-01	7.443490e-03	0	0	0	5	0	14	534
C1orf43	25912	broad.mit.edu	37	1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	164						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488																																						ENST00000368521.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(490-492)Gcc>Acc		chromosome 1 open reading frame 43							85.0	81.0	82.0					1																	154184951		2203	4300	6503	SO:0001583	missense	25912	0	0					g.chr1:154184951C>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.490G>A	chr1.hg19:g.154184951C>T	ENSP00000357507:p.Ala164Thr	1					C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T	p.A164T	NM_001098616.1	NP_001092086.1	1	2	3	2.190011	Q9BWL3	CA043_HUMAN		5	688	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	1	1	hg19	c.490G>A	CCDS41404.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239370	0.79800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.80616	2.505	0.80722	D	1	P;P;D;B;P	0.63880	0.801;0.801;0.993;0.361;0.834	B;B;D;B;P	0.63703	0.434;0.434;0.917;0.133;0.57	T	0.78763	-0.2077	9	0.87932	D	0	-17.7958	18.3255	0.90252	0.0:1.0:0.0:0.0	.	146;130;164;112;130	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	T	130;164;112;146;164;130	.	ENSP00000271925:A130T	A	-	1	0	0	C1orf43	152451575	152451575	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.017000	0.76399	2.814000	0.96858	0.585000	0.79938	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-9.162050	1	0.170000	NM_015449			146	142		361	354	1		1	1		0	0	90	0		1	1	0	428	0	726	0	146	361
C1orf43	25912	broad.mit.edu	37	1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	126						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443																																						ENST00000368521.5	1.000000	0.700000	1	8.600000e-01	0.990000	0.952573	0.990000	1.000000																										0				10						c.(376-378)tCc>tTc		chromosome 1 open reading frame 43							62.0	60.0	61.0					1																	154185064		2203	4300	6503	SO:0001583	missense	25912	0	0					g.chr1:154185064G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.377C>T	chr1.hg19:g.154185064G>A	ENSP00000357507:p.Ser126Phe	1					C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F	p.S126F	NM_001098616.1	NP_001092086.1	1	2	3	2.190011	Q9BWL3	CA043_HUMAN		5	575	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	1	1	hg19	c.377C>T	CCDS41404.1	1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450681	0.26074	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	5.39	3.5	0.40072	.	0.105696	0.64402	D	0.000003	T	0.43211	0.1237	L	0.60455	1.87	0.50039	D	0.999843	B;B;B;B;B	0.24258	0.028;0.082;0.089;0.008;0.1	B;B;B;B;B	0.29942	0.027;0.039;0.109;0.01;0.066	T	0.48758	-0.9007	9	0.59425	D	0.04	-18.5473	9.4956	0.38986	0.0739:0.0:0.7829:0.1433	.	108;92;126;74;92	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	F	92;126;74;108;126;92	.	ENSP00000271925:S92F	S	-	2	0	0	C1orf43	152451688	152451688	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	6.720000	0.74723	0.820000	0.34516	-0.302000	0.09304	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_015449			24	24		267	262	1		1	1		0	0	68	0		9.999997e-01	1	0	155	0	1031	0	24	267
UBAP2L	9898	broad.mit.edu	37	1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000361546.2	+	21	2603	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	854					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			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)			GGTAGCCTGGCCAGCAACCCT	0.473																																						ENST00000361546.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2560-2562)gCc>gTc		ubiquitin associated protein 2-like							89.0	88.0	89.0					1																	154232488		2203	4300	6503	SO:0001583	missense	9898	0	0					g.chr1:154232488C>T	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.2561C>T	chr1.hg19:g.154232488C>T	ENSP00000355343:p.Ala854Val	1					UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V	p.A854V			1	2	3	2.190011	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	21	2603	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	1	1	hg19	c.2561C>T	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798759	0.70567	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.183950	0.47852	D	0.000212	T	0.38558	0.1045	L	0.48642	1.525	0.37479	D	0.915909	D;B;B;B;P;B;P	0.57257	0.979;0.069;0.039;0.039;0.634;0.008;0.94	P;B;B;B;B;B;P	0.58130	0.833;0.037;0.023;0.023;0.204;0.015;0.771	T	0.30090	-0.9990	10	0.87932	D	0	-4.4735	13.9417	0.64059	0.0:0.8354:0.1646:0.0	.	768;865;847;854;350;854;854	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	V	854;854;350;350;865;854	ENSP00000345308:A854V;ENSP00000389445:A854V;ENSP00000271877:A865V;ENSP00000355343:A854V	ENSP00000271877:A865V	A	+	2	0	0	UBAP2L	152499112	152499112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.621000	0.88768	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_014847			67	64		418	409	1		1	1		0	0	74	0		1	1	0	91	0	351	0	67	418
IL6R	3570	broad.mit.edu	37	1	154401729	154401729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154401729C>T	ENST00000368485.3	+	2	580	c.143C>T	c.(142-144)cCg>cTg	p.P48L	IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGACCTGCCCGGGGGTAGAG	0.637																																						ENST00000368485.3	0.480000	0.150000	3.900000e-01	2.100000e-01	0.280000	0.303146	0.280000	0.270000																									IL6R/ATP8B2(2)	0				6						c.(142-144)cCg>cTg		interleukin 6 receptor	Tocilizumab(DB06273)						71.0	70.0	70.0					1																	154401729		2203	4300	6503	SO:0001583	missense	3570	0	0					g.chr1:154401729C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.143C>T	chr1.hg19:g.154401729C>T	ENSP00000357470:p.Pro48Leu	1					IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	p.P48L	NM_000565.3	NP_000556.1	1	2	3	2.190011	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	2	580	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	0	1	hg19	c.143C>T	CCDS1067.1	0	.	.	.	.	.	.	.	.	.	.	C	3.209	-0.162064	0.06502	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.17213	2.29;2.7;2.7	4.85	2.83	0.33086	4.85	2.83	0.33086	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.223860	0.05530	N	0.563856	T	0.03477	0.0100	L	0.29908	0.895	0.42816	D	0.993973	P;P	0.47962	0.903;0.844	B;B	0.30646	0.118;0.055	T	0.51679	-0.8675	10	0.23891	T	0.37	-11.0365	6.0098	0.19569	0.0:0.7644:0.0:0.2356	.	48;48	P08887-2;P08887	.;IL6RA_HUMAN	L	48	ENSP00000357470:P48L;ENSP00000340589:P48L;ENSP00000423184:P48L	ENSP00000340589:P48L	P	+	2	0	0	IL6R	152668353	152668353	0.383000	0.25156	0.851000	0.33527	0.021000	0.10359	0.507000	0.22675	1.268000	0.44264	-0.258000	0.10820	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	0	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.401831	0	0.170000	NM_000565			11	11		489	481	0		1	1		0	0	104	0		9.982126e-01	7.763187e-02	0	3	0	16	0	11	489
IL6R	3570	broad.mit.edu	37	1	154420626	154420626	+	Silent	SNP	C	C	T	rs372039120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Silent_p.N325N	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	325					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CAGCTGAGAACGAGGTGTCCA	0.542																																						ENST00000368485.3	0.610000	0.240000	5.100000e-01	3.100000e-01	0.400000	0.418300	0.400000	0.390000																									IL6R/ATP8B2(2)	0				6						c.(973-975)aaC>aaT		interleukin 6 receptor	Tocilizumab(DB06273)	C	,	0,4406		0,0,2203	108.0	107.0	107.0		975,975	-7.9	0.0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL6R	NM_000565.3,NM_181359.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	325/469,325/366	154420626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3570	2	121412	35				g.chr1:154420626C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.975C>T	chr1.hg19:g.154420626C>T		1					IL6R_ENST00000344086.4_Silent_p.N325N|IL6R_ENST00000507256.1_3'UTR	p.N325N	NM_000565.3	NP_000556.1	1	2	3	2.190011	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	7	1412	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	1	1	hg19	c.975C>T	CCDS1067.1	0	.	.	.	.	.	.	.	.	.	.	C	2.700	-0.271183	0.05716	0.0	1.16E-4	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.96	-7.93	0.01156	3.96	-7.93	0.01156	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15263	-1.0443	4	.	.	.	0.1431	7.4401	0.27179	0.0:0.2439:0.4064:0.3497	.	.	.	.	M	264;128	.	.	T	+	2	0	0	IL6R	152687250	152687250	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.845000	0.00735	-2.316000	0.00645	-0.819000	0.03115	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.235551	1	0.170000	NM_000565			17	17		527	516	0		1	0		0	0	97	0		9.999594e-01	1.307641e-01	0	0	0	19	0	17	527
IL6R	3570	broad.mit.edu	37	1	154437670	154437670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	407					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGCATCCGCCGTACTCTTTGG	0.567																																						ENST00000368485.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									IL6R/ATP8B2(2)	0				6						c.(1219-1221)ccG>ccA		interleukin 6 receptor	Tocilizumab(DB06273)						90.0	86.0	88.0					1																	154437670		2203	4300	6503	SO:0001819	synonymous_variant	3570	5	121412	40				g.chr1:154437670G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1221G>A	chr1.hg19:g.154437670G>A		1					IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	p.P407P	NM_000565.3	NP_000556.1	1	2	3	2.190011	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	10	1658	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	1	1	hg19	c.1221G>A	CCDS1067.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	1	0	1		2	2	2	0		0	0	86		86	81	1	2.060000	-3.114993	1	0.170000	NM_000565			91	88		403	392	1		1	1		0	0	86	0		1	9.736214e-01	0	3	0	25	0	91	403
CHRNB2	1141	broad.mit.edu	37	1	154544331	154544331	+	Silent	SNP	C	C	A	rs374720331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154544331C>A	ENST00000368476.3	+	5	1296	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	344					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)			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)	AGAAGCTGCCCGCGCTGCTCT	0.687																																						ENST00000368476.3	1.000000	0.280000	9.400000e-01	4.400000e-01	0.660000	0.679932	0.660000	1.000000																										0				28						c.(1030-1032)ccC>ccA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)						46.0	31.0	36.0					1																	154544331		2203	4299	6502	SO:0001819	synonymous_variant	1141	0	0					g.chr1:154544331C>A	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.1032C>A	chr1.hg19:g.154544331C>A		1						p.P344P	NM_000748.2	NP_000739.1	1	2	3	2.190011	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	5	1296	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Q9UEH9	Silent	SNP	ENST00000368476.3	0	1	hg19	c.1032C>A	CCDS1070.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-3.353990	1	0.170000	NM_000748			6	6		116	113	0		1	0		0	0	18	0		9.634682e-01	0	0	0	0	1	0	6	116
ADAR	103	broad.mit.edu	37	1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000292205.5_Missense_Mutation_p.A715T|ADAR_ENST00000368471.3_Missense_Mutation_p.A377T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	672	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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)			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)		TCCTCTGCGGCCATCTGCTTT	0.532																																						ENST00000368474.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2014-2016)Gcc>Acc		adenosine deaminase, RNA-specific							72.0	68.0	70.0					1																	154569664		2203	4300	6503	SO:0001583	missense	103	0	0					g.chr1:154569664C>T	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.2014G>A	chr1.hg19:g.154569664C>T	ENSP00000357459:p.Ala672Thr	1					ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	p.A672T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	1	2	3	2.190011	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	5	2213	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	1	1	hg19	c.2014G>A	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.771357	0.96922	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	5.43	5.43	0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.94183	3.505	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	0.97553	1.0093	10	0.66056	D	0.02	-17.8525	19.4276	0.94749	0.0:1.0:0.0:0.0	.	672;672;672	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	715;672;377;667	ENSP00000292205:A715T;ENSP00000357459:A672T;ENSP00000357456:A377T;ENSP00000431794:A667T	ENSP00000292205:A715T	A	-	1	0	0	ADAR	152836288	152836288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.813000	0.96785	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_001111			65	64		336	330	1		1	1		0	0	68	0		1	1	0	153	0	542	0	65	336
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	G	A	rs202096621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Silent_p.I240I|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	197					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.I197I(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)		TGGAGACCGCGATTTTCCACA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19907	0.001		0.0	False		,,,				2504	0.0					ENST00000368474.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I197I(1)	prostate(1)	51						c.(589-591)atC>atT		adenosine deaminase, RNA-specific							108.0	114.0	112.0					1																	154574527		2203	4300	6503	SO:0001819	synonymous_variant	103	4	121412	41				g.chr1:154574527G>A	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.591C>T	chr1.hg19:g.154574527G>A		1					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Silent_p.I240I	p.I197I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	1	2	3	2.190011	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	2	790	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	1	1	hg19	c.591C>T	CCDS1071.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_001111			201	198		640	628	1		1	1	1	0	0	143	2		1	1	1.450735e-01	192	2	404	1	201	640
ADAR	103	broad.mit.edu	37	1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S|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	32					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)			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)		GAAGATCCTGGCCCAGGCTGC	0.522																																						ENST00000368474.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(94-96)Cca>Tca		adenosine deaminase, RNA-specific							44.0	45.0	45.0					1																	154575024		2203	4300	6503	SO:0001583	missense	103	0	0					g.chr1:154575024G>A	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.94C>T	chr1.hg19:g.154575024G>A	ENSP00000357459:p.Pro32Ser	1					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S	p.P32S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	1	2	3	2.190011	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	2	293	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	1	1	hg19	c.94C>T	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401588	0.25291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10960	2.82;2.83;2.84	4.56	1.43	0.22495	4.56	1.43	0.22495	.	2.127140	0.01524	N	0.018491	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20671	0.047;0.002;0.002;0.001	B;B;B;B	0.15484	0.013;0.005;0.005;0.003	T	0.38845	-0.9642	10	0.15952	T	0.53	0.7111	6.0133	0.19588	0.1653:0.0:0.6847:0.15	.	32;32;32;32	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	S	75;32;27	ENSP00000292205:P75S;ENSP00000357459:P32S;ENSP00000431794:P27S	ENSP00000292205:P75S	P	-	1	0	0	ADAR	152841648	152841648	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.689000	0.25437	0.191000	0.20236	0.561000	0.74099	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001111			68	67		259	255	1		1	1	0	0	0	49	0		1	1	0	91	0	208	1	68	259
KCNN3	3782	broad.mit.edu	37	1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T|KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T	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	424					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)			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)	ATGACTCGGGCGATCAGGTAC	0.602																																						ENST00000271915.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1255-1257)Gcc>Acc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	Miconazole(DB01110)|Procaine(DB00721)						108.0	88.0	95.0					1																	154744644		2203	4300	6503	SO:0001583	missense	3782	0	0					g.chr1:154744644C>T	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.1255G>A	chr1.hg19:g.154744644C>T	ENSP00000271915:p.Ala419Thr	1					KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	p.A419T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	1	2	3	2.190011	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)	3	1570	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	1	1	hg19	c.1255G>A	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729773	0.89390	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.23950	1.88;1.88;1.88	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000044	T	0.30448	0.0765	L	0.60455	1.87	0.52501	D	0.999951	D;D;P	0.67145	0.996;0.969;0.861	P;P;P	0.53035	0.716;0.493;0.473	T	0.08006	-1.0743	10	0.62326	D	0.03	-14.5979	17.3493	0.87318	0.0:1.0:0.0:0.0	.	425;424;114	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	T	114;419;106	ENSP00000354764:A114T;ENSP00000271915:A419T;ENSP00000351295:A106T	ENSP00000271915:A419T	A	-	1	0	0	KCNN3	153011268	153011268	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.647000	0.83462	2.413000	0.81919	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_002249			92	91		313	309	1		1	0		0	0	71	0		1	9.719000e-01	0	0	0	22	0	92	313
PYGO2	90780	broad.mit.edu	37	1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	98	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(292-294)cCt>cAt		pygopus family PHD finger 2							20.0	22.0	21.0					1																	154932183		2203	4300	6503	SO:0001583	missense	90780	0	0					g.chr1:154932183G>T	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.293C>A	chr1.hg19:g.154932183G>T	ENSP00000357442:p.Pro98His	1					PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR	p.P98H	NM_138300.3	NP_612157.1	1	2	3	2.190011	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	3	464	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	1	1	hg19	c.293C>A	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028263	0.54790	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.57107	0.42;0.47	4.85	3.93	0.45458	4.85	3.93	0.45458	.	0.839882	0.10411	N	0.677871	T	0.44850	0.1313	N	0.19112	0.55	0.44555	D	0.997518	D	0.89917	1.0	D	0.65987	0.94	T	0.39961	-0.9588	10	0.36615	T	0.2	-0.378	13.4807	0.61334	0.0:0.0:0.8419:0.1581	.	98	Q9BRQ0	PYGO2_HUMAN	H	98;61	ENSP00000357442:P98H;ENSP00000357441:P61H	ENSP00000357441:P61H	P	-	2	0	0	PYGO2	153198807	153198807	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	6.143000	0.71756	1.256000	0.44068	0.455000	0.32223	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	1	0	0		2	2	2	0		0	0	37		37	34	1	2.060000	-20.000000	1	0.170000	NM_138300			36	36		152	148	0		1	1		0	0	37	0		1	9.999999e-01	0	30	0	88	0	36	152
PYGO2	90780	broad.mit.edu	37	1	154932251	154932251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	75	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(223-225)tcC>tcT		pygopus family PHD finger 2							38.0	41.0	40.0					1																	154932251		2203	4300	6503	SO:0001819	synonymous_variant	90780	0	0					g.chr1:154932251G>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.225C>T	chr1.hg19:g.154932251G>A		1					PYGO2_ENST00000368456.1_Silent_p.S38S|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR	p.S75S	NM_138300.3	NP_612157.1	1	2	3	2.190011	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	3	396	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		Q8WYZ4|Q96CY2	Silent	SNP	ENST00000368457.2	1	1	hg19	c.225C>T	CCDS1075.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-5.793188	1	0.170000	NM_138300			47	45		117	116	1		1	1		0	0	35	0		1	1	0	43	0	61	0	47	117
FLAD1	80308	broad.mit.edu	37	1	154960890	154960890	+	Missense_Mutation	SNP	C	C	T	rs374803472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154960890C>T	ENST00000292180.3	+	2	1004	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FLAD1_ENST00000368433.1_Missense_Mutation_p.R228C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	228					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			CTCCTCTGCCCGCCTGCATTA	0.562																																						ENST00000292180.3	0.400000	0.100000	3.100000e-01	1.500000e-01	0.220000	0.236727	0.220000	0.210000																										0				22						c.(682-684)Cgc>Tgc		flavin adenine dinucleotide synthetase 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		391,385,682,391	2.9	1.0	1		70	0,8600		0,0,4300	no	missense,missense,missense,missense	FLAD1	NM_001184891.1,NM_001184892.1,NM_025207.4,NM_201398.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	131/447,129/295,228/588,131/491	154960890	1,13005	2203	4300	6503	SO:0001583	missense	80308	1	121412	34				g.chr1:154960890C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.682C>T	chr1.hg19:g.154960890C>T	ENSP00000292180:p.Arg228Cys	1					FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000368433.1_Missense_Mutation_p.R228C	p.R228C	NM_025207.4	NP_079483.3	1	2	3	2.190011	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	2	1004	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	0	1	hg19	c.682C>T	CCDS1078.1	0	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594311	0.66219	2.27E-4	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	2.94	0.34122	5.81	2.94	0.34122	Molybdopterin binding (4);	0.118328	0.56097	N	0.000029	T	0.55609	0.1931	M	0.71036	2.16	0.47214	D	0.999354	D;B	0.76494	0.999;0.109	D;B	0.64877	0.93;0.016	T	0.60214	-0.7307	9	0.59425	D	0.04	-14.8284	3.0349	0.06118	0.1217:0.5542:0.1184:0.2057	.	228;129	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	C	228;131;131;129;228;129	.	ENSP00000292180:R228C	R	+	1	0	0	FLAD1	153227514	153227514	0.951000	0.32395	1.000000	0.80357	0.885000	0.51271	1.567000	0.36407	0.823000	0.34589	-0.369000	0.07265	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	0	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-3.779356	1	0.170000	NM_025207			8	7		472	459	0		1	1		0	0	76	0		9.880390e-01	7.313980e-01	0	3	0	148	0	8	472
ZBTB7B	51043	broad.mit.edu	37	1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	338					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|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)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			CAAGCTGGTGCGCAAACGCCG	0.607																																						ENST00000368426.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1012-1014)Cgc>Tgc		zinc finger and BTB domain containing 7B							45.0	46.0	46.0					1																	154988148		2203	4300	6503	SO:0001583	missense	51043	0	0					g.chr1:154988148C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1012C>T	chr1.hg19:g.154988148C>T	ENSP00000357411:p.Arg338Cys	1					ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C	p.R338C	NM_001256455.1	NP_001243384.1	1	2	3	2.190011	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	3	1149	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	1	1	hg19	c.1012C>T	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521512	0.64747	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.11063	2.84;2.84;2.81;2.84	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.29908	0.895	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.01626	-1.1309	10	0.87932	D	0	.	9.1092	0.36716	0.2183:0.7817:0.0:0.0	.	338;338;372	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	338;338;372;338	ENSP00000438647:R338C;ENSP00000357411:R338C;ENSP00000406286:R372C;ENSP00000292176:R338C	ENSP00000292176:R338C	R	+	1	0	0	ZBTB7B	153254772	153254772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.168000	0.31859	2.109000	0.64355	0.462000	0.41574	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_015872			90	88		230	226	1		1	1		0	0	53	0		1	1	0	85	0	127	0	90	230
DCST2	127579	broad.mit.edu	37	1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	450						integral component of membrane (GO:0016021)				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)			AGACACCAACACAGGACCTGG	0.502																																						ENST00000368424.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				38						c.(1348-1350)gTg>gCg		DC-STAMP domain containing 2							73.0	71.0	71.0					1																	154999185		2203	4300	6503	SO:0001583	missense	127579	0	0					g.chr1:154999185A>G	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.1349T>C	chr1.hg19:g.154999185A>G	ENSP00000357409:p.Val450Ala	1					DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	p.V450A	NM_144622.2	NP_653223.2	1	2	3	2.190011	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	9	1407	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	1	1	hg19	c.1349T>C	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521824	0.27211	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27720	1.65;1.65	4.82	4.82	0.62117	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.089835	0.42821	D	0.000654	T	0.13114	0.0318	L	0.36672	1.1	0.31072	N	0.712902	D	0.57571	0.98	P	0.49752	0.621	T	0.02156	-1.1204	10	0.06236	T	0.91	-27.98	11.9283	0.52833	1.0:0.0:0.0:0.0	.	450	Q5T1A1	DCST2_HUMAN	A	450	ENSP00000357409:V450A;ENSP00000295536:V450A	ENSP00000295536:V450A	V	-	2	0	0	DCST2	153265809	153265809	0.708000	0.27876	0.385000	0.26158	0.919000	0.55068	3.395000	0.52558	1.803000	0.52742	0.402000	0.26972	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_144622			42	40		266	260	1		1			0	0	75	0		1	0	0	0	0	0	0	42	266
DCST1	149095	broad.mit.edu	37	1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	604						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)			GAAAAGAGCAGCCTTCACCAA	0.572																																						ENST00000295542.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1810-1812)Gcc>Acc		DC-STAMP domain containing 1							72.0	72.0	72.0					1																	155020587		2203	4300	6503	SO:0001583	missense	149095	0	0					g.chr1:155020587G>A	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.1810G>A	chr1.hg19:g.155020587G>A	ENSP00000295542:p.Ala604Thr	1					DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T	p.A604T	NM_152494.3	NP_689707.2	1	2	3	2.190011	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)	16	1906	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	1	1	hg19	c.1810G>A	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657818	0.67586	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.21543	2.0;2.02;2.0;2.02	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.593582	0.16979	N	0.191770	T	0.08133	0.0203	L	0.43923	1.385	0.32777	N	0.502987	P;P	0.36733	0.567;0.567	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.13470	T	0.59	-25.4752	15.3669	0.74529	0.0:0.0:1.0:0.0	.	579;604	E9PHV3;Q5T197	.;DCST1_HUMAN	T	604;604;579;604	ENSP00000295542:A604T;ENSP00000376271:A604T;ENSP00000387369:A579T;ENSP00000357404:A604T	ENSP00000295542:A604T	A	+	1	0	0	DCST1	153287211	153287211	0.943000	0.32029	0.997000	0.53966	0.853000	0.48598	2.215000	0.42862	2.481000	0.83766	0.586000	0.80456	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_152494			67	65		171	164	1		1			0	0	37	0		1	0	0	0	0	0	0	67	171
ADAM15	8751	broad.mit.edu	37	1	155028286	155028286	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	211					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)			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)			TGGTAACAGAGACCAAGACTG	0.592																																						ENST00000356955.2	0.490000	0.170000	4.000000e-01	2.300000e-01	0.310000	0.324370	0.310000	0.300000																										0				39						c.(631-633)gaG>gaA		ADAM metallopeptidase domain 15							176.0	159.0	164.0					1																	155028286		2203	4300	6503	SO:0001819	synonymous_variant	8751	1	121412	31				g.chr1:155028286G>A	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.633G>A	chr1.hg19:g.155028286G>A		1					ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron	p.E211E	NM_207197.2	NP_997080.1	1	2	3	2.190011	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)	7	734	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	1	1	hg19	c.633G>A	CCDS1087.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	0	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.433975	1	0.170000	NM_003815			14	12		571	556	0		1	1		0	0	112	0		9.997015e-01	9.670454e-01	0	4	0	230	0	14	571
EFNA1	1942	broad.mit.edu	37	1	155104109	155104109	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000368406.2_Splice_Site_p.I129I|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	129	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522																																						ENST00000368407.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(385-387)atC>atA		ephrin-A1							49.0	44.0	46.0					1																	155104109		2203	4300	6503	SO:0001630	splice_region_variant	1942	0	0					g.chr1:155104109C>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.388+1C>A	chr1.hg19:g.155104109C>A		1					EFNA1_ENST00000368406.2_Splice_Site_p.I129I|EFNA1_ENST00000469878.1_3'UTR	p.I129I	NM_004428.2	NP_004419.2	1	2	3	2.190011	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)	2	905	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Splice_Site	SNP	ENST00000368407.3	1	0	hg19	c.387C>A	CCDS1091.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_004428	Silent		54	52		151	149	1		1	1		0	0	38	0		1	1	0	112	0	205	0	54	151
DPM3	54344	broad.mit.edu	37	1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000341298.3	-	2	392	c.257C>T	c.(256-258)gCc>gTc	p.A86V	DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000368399.1_Missense_Mutation_p.A116V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	86					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587																																						ENST00000341298.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(256-258)gCc>gTc		dolichyl-phosphate mannosyltransferase polypeptide 3							54.0	60.0	58.0					1																	155112460		2203	4300	6503	SO:0001583	missense	54344	0	0					g.chr1:155112460G>A	AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.257C>T	chr1.hg19:g.155112460G>A	ENSP00000344338:p.Ala86Val	1					DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000368399.1_Missense_Mutation_p.A116V	p.A86V			1	2	3	2.190011	Q9P2X0	DPM3_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)	2	392	-	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Missense_Mutation	SNP	ENST00000341298.3	1	1	hg19	c.257C>T	CCDS1095.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569405	0.45798	.	.	ENSG00000179085	ENST00000368399;ENST00000368400;ENST00000341298	T;T;T	0.77489	-1.1;-1.1;-1.1	4.8	2.93	0.34026	4.8	2.93	0.34026	.	0.496026	0.21280	N	0.077179	T	0.64472	0.2601	L	0.50333	1.59	0.32035	N	0.598941	B;D	0.53312	0.062;0.959	B;P	0.49922	0.081;0.626	T	0.60352	-0.7280	10	0.39692	T	0.17	0.0123	8.8551	0.35223	0.1834:0.0:0.8166:0.0	.	86;162	Q9P2X0;B4DEH1	DPM3_HUMAN;.	V	116;86;86	ENSP00000357384:A116V;ENSP00000357385:A86V;ENSP00000344338:A86V	ENSP00000344338:A86V	A	-	2	0	0	DPM3	153379084	153379084	0.241000	0.23857	0.840000	0.33206	0.821000	0.46438	0.524000	0.22940	0.635000	0.30488	-0.140000	0.14226	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_153741			120	119		461	451	1		1	1		0	0	91	0		1	1	0	53	0	116	0	120	461
TRIM46	80128	broad.mit.edu	37	1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A	rs373079383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000334634.4	+	2	278	c.278G>A	c.(277-279)cGc>cAc	p.R93H	TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|KRTCAP2_ENST00000295682.4_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657																																						ENST00000334634.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(277-279)cGc>cAc		tripartite motif containing 46		G	HIS/ARG	0,4354		0,0,2177	33.0	39.0	37.0		278	4.5	1.0	1		37	1,8505		0,1,4252	no	missense	TRIM46	NM_025058.3	29	0,1,6429	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	93/760	155148076	1,12859	2177	4253	6430	SO:0001583	missense	80128	0	0					g.chr1:155148076G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.278G>A	chr1.hg19:g.155148076G>A	ENSP00000334657:p.Arg93His	1					RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR	p.R93H	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	1	2	3	2.190011	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	2	278	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	1	1	hg19	c.278G>A	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183414	0.78677	0.0	1.18E-4	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60548	0.75;0.49;0.68;0.43;0.18;0.23	4.54	4.54	0.55810	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.70275	2.135	0.80722	D	1	D;D;P;B;D;D	0.89917	0.999;1.0;0.946;0.403;1.0;1.0	D;D;B;B;D;D	0.85130	0.991;0.991;0.347;0.025;0.991;0.997	T	0.69308	-0.5179	10	0.44086	T	0.13	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	80;93;80;70;93;93	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	100;80;93;93;93;70;93	ENSP00000442719:R100H;ENSP00000357369:R93H;ENSP00000376245:R93H;ENSP00000357367:R93H;ENSP00000357366:R70H;ENSP00000334657:R93H	ENSP00000334657:R93H	R	+	2	0	0	TRIM46	153414700	153414700	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.694000	0.68272	2.227000	0.72691	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	1	0	1		2	2	2	0		0	0	113		113	79	1	2.060000	-3.017977	1	0.170000	NM_025058			90	83		519	442	1		1	0		0	0	113	0		1	6.037386e-02	0	0	0	3	0	90	519
TRIM46	80128	broad.mit.edu	37	1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000334634.4	+	9	1750	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.D561N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	584	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCCTGGGCGACGTGGCTGT	0.667																																						ENST00000334634.4	1.000000	0.460000	1	6.200000e-01	0.820000	0.814421	0.820000	1.000000																										0				29						c.(1750-1752)Gac>Aac		tripartite motif containing 46							23.0	23.0	23.0					1																	155154489		2203	4299	6502	SO:0001583	missense	80128	0	0					g.chr1:155154489G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1750G>A	chr1.hg19:g.155154489G>A	ENSP00000334657:p.Asp584Asn	1					RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.D561N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000468878.1_3'UTR	p.D584N	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	1	2	3	2.190011	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	9	1750	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	1	1	hg19	c.1750G>A	CCDS1097.1	0	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875559	0.72180	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61040	0.14;2.54;0.14;0.14	4.06	4.06	0.47325	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.072502	0.53938	D	0.000049	T	0.60353	0.2262	L	0.53249	1.67	0.49483	D	0.999795	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55528	-0.8127	10	0.20519	T	0.43	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	584;584	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	N	542;458;584;561;584	ENSP00000440254:D458N;ENSP00000357367:D584N;ENSP00000357366:D561N;ENSP00000334657:D584N	ENSP00000334657:D584N	D	+	1	0	0	TRIM46	153421113	153421113	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.851000	0.92205	2.285000	0.76669	0.561000	0.74099	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-16.937990	1	0.170000	NM_025058			13	13		192	189	0		1	0		0	0	36	0		9.995437e-01	1.388533e-02	0	0	0	3	0	13	192
MUC1	4582	broad.mit.edu	37	1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000338684.5_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532			T	IGH@	B-NHL																																	ENST00000368395.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q21	1q21	4582	T	"""mucin 1, transmembrane"""				L	L	IGH@		B-NHL		0				10						c.(916-918)Ttt>Att		mucin 1, cell surface associated							101.0	116.0	111.0					1																	155160512		2203	4300	6503	SO:0001583	missense	4582	0	0					g.chr1:155160512A>T	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.916T>A	chr1.hg19:g.155160512A>T	ENSP00000357380:p.Phe306Ile	1					RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000368398.3_Intron	p.F306I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	1	2	3	2.190011	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	4	987	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	1	1	hg19	c.916T>A	CCDS55640.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013268	0.75161	.	.	ENSG00000185499	ENST00000368395;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.000000	0.36932	N	0.002340	T	0.53610	0.1807	M	0.75264	2.295	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;B;P;B;D;D;D;D;B;P	0.71674	0.991;0.982;0.992;0.984;0.983;0.998;0.996;0.993;0.975;0.959;0.273;0.053;0.871;0.094;0.997;0.979;0.987;0.994;0.005;0.845	P;P;P;P;D;D;D;D;P;P;B;B;P;B;D;P;P;P;B;D	0.74023	0.854;0.819;0.865;0.786;0.945;0.982;0.959;0.942;0.882;0.755;0.16;0.16;0.622;0.226;0.917;0.87;0.864;0.89;0.025;0.931	T	0.50329	-0.8841	10	0.72032	D	0.01	-12.3831	9.9079	0.41388	1.0:0.0:0.0:0.0	.	1095;86;1083;104;1074;113;392;392;306;113;72;69;74;48;95;104;104;95;60;86	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;B1AVR0;Q0VAP5;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	306;95;60;95;104;392;86;104	ENSP00000357380:F306I;ENSP00000357377:F95I;ENSP00000389098:F60I;ENSP00000388172:F95I;ENSP00000357378:F104I;ENSP00000357375:F86I;ENSP00000338983:F104I	ENSP00000338983:F104I	F	-	1	0	0	MUC1	153427136	153427136	0.001000	0.12720	0.059000	0.19551	0.222000	0.24845	0.840000	0.27600	1.606000	0.50161	0.383000	0.25322	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	1	0	1		2	2	2	0		0	0	184		184	183	1	2.060000	-20.000000	1	0.170000	NM_002456			221	214		655	640	1		1	1		0	0	184	0		1	1	0	1535	0	693	0	221	655
CLK2	1196	broad.mit.edu	37	1	155234050	155234050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I394I|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000361168.5_Silent_p.I395I|SCAMP3_ENST00000302631.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	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)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			TAGGACCCAAGATCCTTTCCA	0.468								Other conserved DNA damage response genes																														ENST00000368361.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1186-1188)atC>atT	Other conserved DNA damage response genes	CDC-like kinase 2							114.0	106.0	109.0					1																	155234050		2203	4300	6503	SO:0001819	synonymous_variant	1196	0	0					g.chr1:155234050G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1188C>T	chr1.hg19:g.155234050G>A		1					CLK2_ENST00000361168.5_Silent_p.I395I|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I394I|SCAMP3_ENST00000355379.3_5'Flank	p.I396I			1	2	3	2.190011	P49760	CLK2_HUMAN	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)	11	1503	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	1	1	hg19	c.1188C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_003993			60	60		317	310	1		1	1		0	0	69	0		1	1	0	31	0	109	0	60	317
CLK2	1196	broad.mit.edu	37	1	155236524	155236524	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000361168.5_Silent_p.V277V			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	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)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			ACTCACACTTGACAGCCTGGC	0.572								Other conserved DNA damage response genes																														ENST00000368361.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(832-834)gtC>gtT	Other conserved DNA damage response genes	CDC-like kinase 2							86.0	78.0	81.0					1																	155236524		2203	4300	6503	SO:0001819	synonymous_variant	1196	0	0					g.chr1:155236524G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.834C>T	chr1.hg19:g.155236524G>A		1					CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.V276V	p.V278V			1	2	3	2.190011	P49760	CLK2_HUMAN	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)	7	1149	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	1	1	hg19	c.834C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003993			54	53		147	145	1		1	1		0	0	50	0		1	1	0	56	0	120	0	54	147
PKLR	5313	broad.mit.edu	37	1	155264395	155264395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000342741.4	-	6	881	c.843C>T	c.(841-843)gaC>gaT	p.D281D	PKLR_ENST00000392414.3_Silent_p.D250D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	281			D -> N (in PKRD).		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)			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)	CAAAGACGATGTCCACCCCAT	0.637																																						ENST00000342741.4	1.000000	0.710000	1	8.600000e-01	0.990000	0.949642	0.990000	1.000000																										0				35						c.(841-843)gaC>gaT		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						83.0	75.0	78.0					1																	155264395		2203	4300	6503	SO:0001819	synonymous_variant	5313	0	0					g.chr1:155264395G>A	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.843C>T	chr1.hg19:g.155264395G>A		1					PKLR_ENST00000392414.3_Silent_p.D250D	p.D281D	NM_000298.5	NP_000289.1	1	2	3	2.190011	P30613	KPYR_HUMAN	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)	6	881	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		O75758|P11973	Silent	SNP	ENST00000342741.4	1	1	hg19	c.843C>T	CCDS1109.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_000298			29	29		331	327	0		1			0	0	56	0		1	0	0	0	0	0	0	29	331
PKLR	5313	broad.mit.edu	37	1	155265358	155265358	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000342741.4	-	4	415	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	PKLR_ENST00000392414.3_Splice_Site_p.Y95C	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	126					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)			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)	CTCAGCATGGTACTGGGGGAG	0.692																																						ENST00000342741.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.983995	0.990000	1.000000																										0				35						c.(376-378)tAc>tGc		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						37.0	36.0	36.0					1																	155265358		2203	4300	6503	SO:0001630	splice_region_variant	5313	0	0					g.chr1:155265358T>C	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.376-1A>G	chr1.hg19:g.155265358T>C		1					PKLR_ENST00000392414.3_Splice_Site_p.Y95C	p.Y126C	NM_000298.5	NP_000289.1	1	2	3	2.190011	P30613	KPYR_HUMAN	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)	4	415	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		O75758|P11973	Splice_Site	SNP	ENST00000342741.4	1	0	hg19	c.377A>G	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868150	0.72065	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99445	-5.91;-5.91	4.25	4.25	0.50352	4.25	4.25	0.50352	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.065304	0.64402	D	0.000005	D	0.99576	0.9847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	-15.2275	11.6206	0.51115	0.0:0.0:0.0:1.0	.	126;117	P30613;B1AVT1	KPYR_HUMAN;.	C	151;95;126;62	ENSP00000376214:Y95C;ENSP00000339933:Y126C	ENSP00000271946:Y62C	Y	-	2	0	0	PKLR	153531982	153531982	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.650000	0.83521	1.907000	0.55213	0.528000	0.53228	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_000298	Missense_Mutation		21	21		196	194	0		1	0		0	0	38	0		9.999980e-01	0	0	0	0	1	0	21	196
FDPS	2224	broad.mit.edu	37	1	155289473	155289473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	306					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552																																						ENST00000356657.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(916-918)caG>caA		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						81.0	82.0	82.0					1																	155289473		2203	4300	6503	SO:0001819	synonymous_variant	2224	0	0					g.chr1:155289473G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.918G>A	chr1.hg19:g.155289473G>A		1					RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Silent_p.Q306Q|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank	p.Q306Q	NM_001135821.1	NP_001129293.1	1	2	3	2.190011	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)	9	1080	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	1	1	hg19	c.918G>A	CCDS1110.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_002004			98	95		437	426	0		1	1		0	0	101	0		1	1	0	208	0	519	0	98	437
RUSC1	23623	broad.mit.edu	37	1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T	rs376498049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	813					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.P344Q(2)|p.P707Q(2)|p.P403Q(2)		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)			TGGCTGCCCCCGACAGTGAGT	0.582																																						ENST00000368352.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										6	Substitution - Missense(6)	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)	lung(3)|kidney(3)	21						c.(2437-2439)cCg>cTg		RUN and SH3 domain containing 1		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	153.0	158.0	156.0		2438,2120,1208,1031	5.2	1.0	1		156	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RUSC1	NM_001105203.1,NM_001105204.1,NM_001105205.1,NM_014328.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	813/903,707/797,403/493,344/434	155297964	1,13005	2203	4300	6503	SO:0001583	missense	23623	5	121412	42				g.chr1:155297964C>T	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.2438C>T	chr1.hg19:g.155297964C>T	ENSP00000357336:p.Pro813Leu	1					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L	p.P813L	NM_001105203.1	NP_001098673.1	1	2	3	2.190011	Q9BVN2	RUSC1_HUMAN	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)	9	2589	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	1	1	hg19	c.2438C>T	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317388	0.10845	0.0	1.16E-4	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29655	2.05;1.99;1.56;1.6;1.6	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000037	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	D;D;D;P;P;D	0.71674	0.997;0.998;0.992;0.937;0.46;0.984	P;P;P;B;B;B	0.60117	0.742;0.869;0.619;0.267;0.234;0.327	T	0.01071	-1.1461	10	0.17832	T	0.49	-16.3888	14.3078	0.66395	0.0:1.0:0.0:0.0	.	311;344;238;403;312;813	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	707;813;403;344;344	ENSP00000357338:P707L;ENSP00000357336:P813L;ENSP00000357331:P403L;ENSP00000357333:P344L;ENSP00000292254:P344L	ENSP00000292254:P344L	P	+	2	0	0	RUSC1	153564588	153564588	0.916000	0.31088	0.991000	0.47740	0.524000	0.34500	3.985000	0.56930	2.837000	0.97791	0.591000	0.81541	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1	1	0	1		18	2	2	0		0	1	262		262	260	1	2.060000	-10.889680	1	0.170000				364	355		1011	991	1		1	1		0	0	262	0		1	1	0	107	0	147	0	364	1011
RUSC1	23623	broad.mit.edu	37	1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	888	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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)			GGGCGGGATGGCATGGAGGGT	0.592																																						ENST00000368352.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				21						c.(2662-2664)gGc>gTc		RUN and SH3 domain containing 1							191.0	115.0	141.0					1																	155300316		2203	4300	6503	SO:0001583	missense	23623	0	0					g.chr1:155300316G>T	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.2663G>T	chr1.hg19:g.155300316G>T	ENSP00000357336:p.Gly888Val	1					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V	p.G888V	NM_001105203.1	NP_001098673.1	1	2	3	2.190011	Q9BVN2	RUSC1_HUMAN	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)	10	2814	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	1	1	hg19	c.2663G>T	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504510	0.64410	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.55	4.55	0.56014	4.55	4.55	0.56014	Src homology-3 domain (4);	0.296833	0.24041	N	0.042097	T	0.77994	0.4214	M	0.93978	3.48	0.50467	D	0.999876	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.99;0.998	D;D;D;D;D;D;D	0.91635	0.969;0.948;0.969;0.999;0.962;0.948;0.957	T	0.81660	-0.0832	10	0.87932	D	0	-16.1287	7.2762	0.26286	0.1519:0.0:0.8481:0.0	.	386;419;419;313;478;387;888	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	V	782;888;478;419;419	ENSP00000357338:G782V;ENSP00000357336:G888V;ENSP00000357331:G478V;ENSP00000357333:G419V;ENSP00000292254:G419V	ENSP00000292254:G419V	G	+	2	0	0	RUSC1	153566940	153566940	0.831000	0.29352	0.943000	0.38184	0.942000	0.58702	2.686000	0.46968	2.518000	0.84900	0.467000	0.42956	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-15.260920	1	0.170000				29	29		171	169	1		1	1		0	0	35	0		1	1	0	64	0	180	0	29	171
ASH1L	55870	broad.mit.edu	37	1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2754	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)			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)			CCCCACTACAGCCTCCAAGGG	0.478																																						ENST00000368346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(8260-8262)gCt>gAt		ash1 (absent, small, or homeotic)-like (Drosophila)							108.0	105.0	106.0					1																	155313152		2203	4300	6503	SO:0001583	missense	55870	0	0					g.chr1:155313152G>T	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.8261C>A	chr1.hg19:g.155313152G>T	ENSP00000357330:p.Ala2754Asp	1					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D|MIR555_ENST00000384987.1_RNA	p.A2754D			1	2	3	2.190011	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	24	8900	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	1	1	hg19	c.8261C>A		1	.	.	.	.	.	.	.	.	.	.	G	32	5.176866	0.94846	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86164	-2.08;-2.08	5.3	5.3	0.74995	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89183	0.3545	10	0.56958	D	0.05	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2754;2749	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	2754;2749	ENSP00000357330:A2754D;ENSP00000376204:A2749D	ENSP00000357330:A2754D	A	-	2	0	0	ASH1L	153579776	153579776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.623000	0.98386	2.757000	0.94681	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_018489			68	66		374	357	1		1	1		0	0	89	0		1	9.999929e-01	0	15	0	81	0	68	374
ASH1L	55870	broad.mit.edu	37	1	155348095	155348095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2108	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.|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)			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)			CATCAACACAGCCCTTCCTGG	0.423																																						ENST00000368346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(6322-6324)ggC>ggT		ash1 (absent, small, or homeotic)-like (Drosophila)							219.0	212.0	214.0					1																	155348095		2203	4300	6503	SO:0001819	synonymous_variant	55870	0	0					g.chr1:155348095G>A	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.6324C>T	chr1.hg19:g.155348095G>A		1					ASH1L_ENST00000392403.3_Silent_p.G2103G	p.G2108G			1	2	3	2.190011	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	10	6963	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	1	1	hg19	c.6324C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-20.000000	1	0.170000	NM_018489			236	233		788	775	1		1	1		0	0	184	0		1	1	0	24	0	64	0	236	788
TMEM51	55092	broad.mit.edu	37	1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	33						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622																																						ENST00000428417.1	1.000000	0.730000	9.200000e-01	8.000000e-01	0.870000	0.871489	0.870000	0.930000																										0				14						c.(97-99)Ctg>Atg		transmembrane protein 51							125.0	129.0	127.0					1																	15541680		2203	4300	6503	SO:0001583	missense	55092	0	0					g.chr1:15541680C>A	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.97C>A	chr1.hg19:g.15541680C>A	ENSP00000394899:p.Leu33Met	1					TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M	p.L33M	NM_001136217.1	NP_001129689.1	0	0	0	1.821110	Q9NW97	TMM51_HUMAN		2	543	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	A8K819	Missense_Mutation	SNP	ENST00000428417.1	1	1	hg19	c.97C>A	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584107	0.65992	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.140331	0.51477	D	0.000095	T	0.54581	0.1867	M	0.64997	1.995	0.44677	D	0.997666	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.55970	-0.8056	10	0.66056	D	0.02	-1.3169	11.666	0.51374	0.0:0.9193:0.0:0.0807	.	33;33	Q9BSA0;Q9NW97	.;TMM51_HUMAN	M	33	ENSP00000394899:L33M;ENSP00000365182:L33M;ENSP00000412298:L33M;ENSP00000409665:L33M;ENSP00000383600:L33M;ENSP00000365176:L33M	ENSP00000303666:L33M	L	+	1	2	2	TMEM51	15414267	15414267	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.203000	0.32284	2.564000	0.86499	0.655000	0.94253	CTG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-3.318794	1	0.170000	NM_018022			77	77		780	772	0		1	1		0	0	163	0		1	9.999905e-01	0	13	0	151	0	77	780
ASH1L	55870	broad.mit.edu	37	1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1786	Ser-rich.				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)			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)			CTGCTTGTCAACTTTTCAGAT	0.473																																						ENST00000368346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(5356-5358)Ttg>Gtg		ash1 (absent, small, or homeotic)-like (Drosophila)							110.0	105.0	107.0					1																	155408590		2203	4300	6503	SO:0001583	missense	55870	0	0					g.chr1:155408590A>C	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.5356T>G	chr1.hg19:g.155408590A>C	ENSP00000357330:p.Leu1786Val	1					ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V	p.L1786V			1	2	3	2.190011	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	5	5995	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	1	1	hg19	c.5356T>G		1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271183	0.40194	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.308755	0.23714	N	0.045287	T	0.66616	0.2807	N	0.14661	0.345	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.18871	0.01;0.023	T	0.65043	-0.6264	10	0.24483	T	0.36	.	9.4335	0.38624	0.9199:0.0:0.0801:0.0	.	1786;1786	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1786	ENSP00000357330:L1786V;ENSP00000376204:L1786V	ENSP00000357330:L1786V	L	-	1	2	2	ASH1L	153675214	153675214	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.828000	0.39111	2.253000	0.74438	0.533000	0.62120	TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_018489			123	121		555	546	1		1	1		0	0	91	0		1	9.999528e-01	0	11	0	55	0	123	555
ASH1L	55870	broad.mit.edu	37	1	155451439	155451439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L408L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	408					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)			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)			CAACTCATTAGTTTCTTTCCA	0.448																																						ENST00000368346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(1222-1224)Cta>Tta		ash1 (absent, small, or homeotic)-like (Drosophila)							115.0	111.0	112.0					1																	155451439		2203	4300	6503	SO:0001819	synonymous_variant	55870	0	0					g.chr1:155451439G>A	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.1222C>T	chr1.hg19:g.155451439G>A		1					ASH1L_ENST00000392403.3_Silent_p.L408L|ASH1L_ENST00000548830.1_3'UTR	p.L408L			1	2	3	2.190011	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	3	1861	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	1	1	hg19	c.1222C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_018489			197	193		480	468	1		1	1		0	0	144	0		1	9.997109e-01	0	7	0	25	0	197	480
ASH1L	55870	broad.mit.edu	37	1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K|ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	56					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)			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)			TTCGATGTTTCTTTCTCGATT	0.398																																						ENST00000368346.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(166-168)aGa>aAa		ash1 (absent, small, or homeotic)-like (Drosophila)							310.0	311.0	310.0					1																	155491144		2203	4300	6503	SO:0001583	missense	55870	0	0					g.chr1:155491144C>T	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.167G>A	chr1.hg19:g.155491144C>T	ENSP00000357330:p.Arg56Lys	1					ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K	p.R56K			1	2	3	2.190011	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)	2	806	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	1	1	hg19	c.167G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338689	0.60963	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.87491	-2.26;-2.26	6.03	5.13	0.70059	6.03	5.13	0.70059	.	0.384283	0.27996	N	0.017004	T	0.49712	0.1573	N	0.08118	0	0.26744	N	0.970322	B;B	0.13145	0.004;0.007	B;B	0.16289	0.007;0.015	T	0.32824	-0.9892	10	0.05721	T	0.95	.	9.9335	0.41537	0.1377:0.7926:0.0:0.0697	.	56;56	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	56	ENSP00000357330:R56K;ENSP00000376204:R56K	ENSP00000357330:R56K	R	-	2	0	0	ASH1L	153757768	153757768	1.000000	0.71417	0.861000	0.33841	0.862000	0.49288	4.288000	0.59007	1.567000	0.49668	0.557000	0.71058	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1		2	2	2	0		0	0	341		341	340	1	2.060000	-20.000000	1	0.170000	NM_018489			373	364		1735	1695	1		1	1		0	0	341	0		1	9.994672e-01	0	14	0	38	0	373	1735
MSTO1	55154	broad.mit.edu	37	1	155581999	155581999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000483734.1_3'UTR|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	235					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567																																						ENST00000245564.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(703-705)caC>caT		misato 1, mitochondrial distribution and morphology regulator							40.0	44.0	43.0					1																	155581999		2201	4300	6501	SO:0001819	synonymous_variant	55154	0	0					g.chr1:155581999C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.705C>T	chr1.hg19:g.155581999C>T		1					MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	p.H235H	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	1	2	3	2.190011	Q9BUK6	MSTO1_HUMAN		8	729	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	1	1	hg19	c.705C>T	CCDS1114.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0		2	2	2	0		0	0	63		63	67	1	2.060000	-20.000000	1	0.170000	NM_018116			53	51		274	256	0		1	1		0	0	63	0		1	6.877496e-01	0	2	0	12	0	53	274
MSTO1	55154	broad.mit.edu	37	1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000483734.1_3'UTR|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	246					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542																																						ENST00000245564.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(736-738)Gca>Aca		misato 1, mitochondrial distribution and morphology regulator							39.0	44.0	43.0					1																	155582030		2203	4298	6501	SO:0001583	missense	55154	0	0					g.chr1:155582030G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.736G>A	chr1.hg19:g.155582030G>A	ENSP00000245564:p.Ala246Thr	1					MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	p.A246T	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	1	2	3	2.190011	Q9BUK6	MSTO1_HUMAN		8	760	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	1	1	hg19	c.736G>A	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	.	3.950	-0.012399	0.07727	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.41758	0.99;0.99	3.17	-2.59	0.06209	3.17	-2.59	0.06209	Tubulin/FtsZ, GTPase domain (3);	0.261190	0.37178	N	0.002219	T	0.05410	0.0143	N	0.02412	-0.56	0.47584	D	0.999463	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.0;0.002;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.01;0.004;0.002;0.004;0.01;0.002;0.002;0.002	T	0.17623	-1.0363	10	0.48119	T	0.1	.	4.7492	0.13052	0.4891:0.0:0.3635:0.1474	.	191;246;211;246;68;246;246;246	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	T	246;211	ENSP00000245564:A246T;ENSP00000357325:A211T	ENSP00000245564:A246T	A	+	1	0	0	MSTO1	153848654	153848654	0.425000	0.25498	0.009000	0.14445	0.553000	0.35397	1.231000	0.32624	-0.444000	0.07170	0.313000	0.20887	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0		2	2	2	0		0	0	58		58	63	1	2.060000	-6.202543	1	0.170000	NM_018116			93	87		257	247	0		1	1		0	0	58	0		1	9.153293e-01	0	7	0	7	0	93	257
MSTO1	55154	broad.mit.edu	37	1	155582081	155582081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000483734.1_3'UTR|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	263					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552																																						ENST00000245564.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(787-789)Ctg>Ttg		misato 1, mitochondrial distribution and morphology regulator							52.0	57.0	55.0					1																	155582081		2203	4300	6503	SO:0001819	synonymous_variant	55154	1	121380	30				g.chr1:155582081C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.787C>T	chr1.hg19:g.155582081C>T		1					MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	p.L263L	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	1	2	3	2.190011	Q9BUK6	MSTO1_HUMAN		8	811	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	1	1	hg19	c.787C>T	CCDS1114.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0		2	2	2	0		0	0	75		75	75	1	2.060000	-3.392052	1	0.170000	NM_018116			75	70		343	334	0		1	1		0	0	75	0		1	9.999763e-01	0	13	0	60	0	75	343
YY1AP1	55249	broad.mit.edu	37	1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000295566.4	-	11	2364	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I	YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	781					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)					TCCATCTTGACAACTTCCTCT	0.512																																						ENST00000295566.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2341-2343)Gtc>Atc		YY1 associated protein 1							120.0	128.0	125.0					1																	155629498		2203	4300	6503	SO:0001583	missense	55249	0	0					g.chr1:155629498C>T	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.2341G>A	chr1.hg19:g.155629498C>T	ENSP00000295566:p.Val781Ile	1					YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I	p.V781I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	1	2	3	2.190011	Q9H869	YYAP1_HUMAN		11	2364	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	1	1	hg19	c.2341G>A	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084995	0.55861	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.32;1.32;1.39;1.32;1.32;1.3;1.34;1.32;1.39;1.39;1.24;1.4	2.57	2.57	0.30868	2.57	2.57	0.30868	.	0.276715	0.30752	N	0.008956	T	0.42966	0.1226	M	0.62723	1.935	0.80722	D	1	B;D;P;D;D	0.69078	0.4;0.996;0.65;0.997;0.996	B;D;P;D;D	0.78314	0.257;0.987;0.558;0.991;0.987	T	0.43048	-0.9415	10	0.62326	D	0.03	.	10.1575	0.42831	0.0:1.0:0.0:0.0	.	873;715;781;735;853	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	724;735;704;735;724;853;781;735;704;715;873;581	ENSP00000352134:V724I;ENSP00000347686:V735I;ENSP00000311138:V704I;ENSP00000316079:V735I;ENSP00000355298:V724I;ENSP00000357324:V853I;ENSP00000295566:V781I;ENSP00000357314:V735I;ENSP00000385791:V704I;ENSP00000385390:V715I;ENSP00000357323:V873I;ENSP00000437926:V581I	ENSP00000295566:V781I	V	-	1	0	0	YY1AP1	153896122	153896122	0.411000	0.25384	0.565000	0.28409	0.057000	0.15508	1.943000	0.40253	1.424000	0.47217	0.313000	0.20887	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	1		2	2	2	0		0	0	182		182	182	1	2.060000	-20.000000	1	0.170000	NM_139118			114	111		711	706	1		1	1		0	0	182	0		1	1	0	60	0	160	0	114	711
YY1AP1	55249	broad.mit.edu	37	1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000295566.4	-	11	1518	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	499					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)					GGCTGTATTGGGTGAGGAATC	0.557																																						ENST00000295566.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1495-1497)Cca>Tca		YY1 associated protein 1							43.0	51.0	48.0					1																	155630344		2203	4297	6500	SO:0001583	missense	55249	0	0					g.chr1:155630344G>A	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.1495C>T	chr1.hg19:g.155630344G>A	ENSP00000295566:p.Pro499Ser	1					YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S	p.P499S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	1	2	3	2.190011	Q9H869	YYAP1_HUMAN		11	1518	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	1	1	hg19	c.1495C>T	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494657	0.04322	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	2.53	-1.25	0.09405	2.53	-1.25	0.09405	.	1.325680	0.04977	N	0.465021	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B	0.34015	0.024;0.01;0.435;0.026;0.07	B;B;B;B;B	0.32465	0.032;0.022;0.146;0.046;0.023	T	0.24512	-1.0158	10	0.66056	D	0.02	.	4.4857	0.11788	0.2871:0.0:0.5222:0.1907	.	591;433;499;453;571	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	442;453;422;453;442;571;499;453;422;433;591;299	ENSP00000352134:P442S;ENSP00000347686:P453S;ENSP00000311138:P422S;ENSP00000316079:P453S;ENSP00000355298:P442S;ENSP00000357324:P571S;ENSP00000295566:P499S;ENSP00000357314:P453S;ENSP00000385791:P422S;ENSP00000385390:P433S;ENSP00000357323:P591S;ENSP00000437926:P299S	ENSP00000295566:P499S	P	-	1	0	0	YY1AP1	153896968	153896968	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.134000	0.10436	-0.477000	0.06832	0.306000	0.20318	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	1		2	2	2	0		0	0	83		83	90	1	2.060000	-3.286543	1	0.170000	NM_139118			97	82		416	335	0		1	1		0	0	83	0		1	1	0	57	0	196	0	97	416
YY1AP1	55249	broad.mit.edu	37	1	155646536	155646536	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000295566.4	-	5	348	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	109					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)					AGTTCCTCAAACCTATCCCAA	0.408																																						ENST00000295566.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				31						c.(325-327)Ttt>Gtt		YY1 associated protein 1							131.0	112.0	119.0					1																	155646536		2203	4300	6503	SO:0001630	splice_region_variant	55249	0	0					g.chr1:155646536A>C	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.324-1T>G	chr1.hg19:g.155646536A>C		1					YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V	p.F109V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	1	2	3	2.190011	Q9H869	YYAP1_HUMAN		5	348	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Splice_Site	SNP	ENST00000295566.4	1	0	hg19	c.325T>G	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417714	0.62622	.	.	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	0.30714	1.55;1.61;1.59;1.61;1.55;1.52;1.54;1.61;1.59;1.61;1.52	3.78	3.78	0.43462	3.78	3.78	0.43462	.	0.216427	0.41823	D	0.000816	T	0.42381	0.1200	M	0.68952	2.095	0.42822	D	0.993996	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.999;0.991;0.998;0.99	T	0.46062	-0.9218	10	0.72032	D	0.01	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	43;109;181;181;109;43;181	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	V	32;43;32;43;32;181;109;43;32;43;181;181;43;32;43	ENSP00000352134:F32V;ENSP00000347686:F43V;ENSP00000311138:F32V;ENSP00000316079:F43V;ENSP00000355298:F32V;ENSP00000357324:F181V;ENSP00000295566:F109V;ENSP00000357314:F43V;ENSP00000385791:F32V;ENSP00000385390:F43V;ENSP00000357323:F181V	ENSP00000295566:F109V	F	-	1	0	0	YY1AP1	153913160	153913160	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-18.710160	1	0.170000	NM_139118	Missense_Mutation		43	40		288	284	1		1	1		0	0	56	0		1	9.999988e-01	0	21	0	119	0	43	288
GON4L	54856	broad.mit.edu	37	1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000368331.1	-	23	4790	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000437809.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1581					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)					TTTTCCAGCAGCTTTGATGCT	0.542																																						ENST00000368331.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(4741-4743)gCt>gTt		gon-4-like (C. elegans)							60.0	58.0	59.0					1																	155732150		1991	4171	6162	SO:0001583	missense	54856	0	0					g.chr1:155732150G>A	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.4742C>T	chr1.hg19:g.155732150G>A	ENSP00000357315:p.Ala1581Val	1					GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	p.A1581V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	1	2	3	2.190011	Q3T8J9	GON4L_HUMAN		23	4790	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	1	1	hg19	c.4742C>T		1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522108	0.64747	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.12672	2.66;2.66;2.66	5.13	3.21	0.36854	5.13	3.21	0.36854	.	0.280404	0.31123	N	0.008201	T	0.07954	0.0199	N	0.14661	0.345	0.30708	N	0.74962	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.09143	-1.0688	10	0.59425	D	0.04	.	5.1678	0.15094	0.0779:0.1456:0.6255:0.1509	.	777;1581;1581	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	V	1581	ENSP00000396117:A1581V;ENSP00000357315:A1581V;ENSP00000271883:A1581V	ENSP00000271883:A1581V	A	-	2	0	0	GON4L	153998774	153998774	0.989000	0.36119	0.997000	0.53966	0.690000	0.40134	1.827000	0.39102	0.699000	0.31761	0.305000	0.20034	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_032292			40	40		110	109	1		1	1		0	0	27	0		1	9.999995e-01	0	23	0	46	0	40	110
GON4L	54856	broad.mit.edu	37	1	155733187	155733187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	ENST00000368331.1	-	22	4690	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_ENST00000437809.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1548	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)					TCTCCAACTGCTTCATCCGTC	0.502																																						ENST00000368331.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				45						c.(4642-4644)Gca>Tca		gon-4-like (C. elegans)							50.0	52.0	51.0					1																	155733187		1988	4179	6167	SO:0001583	missense	54856	0	0					g.chr1:155733187C>A	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.4642G>T	chr1.hg19:g.155733187C>A	ENSP00000357315:p.Ala1548Ser	1					GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	p.A1548S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	1	2	3	2.190011	Q3T8J9	GON4L_HUMAN		22	4690	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	0	1	hg19	c.4642G>T		1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720281	0.48728	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10382	2.88;2.88;2.88	4.93	1.92	0.25849	4.93	1.92	0.25849	.	0.589122	0.16803	N	0.198911	T	0.02533	0.0077	L	0.47716	1.5	0.09310	N	1	P;P;P	0.42296	0.512;0.666;0.775	B;B;B	0.38156	0.15;0.137;0.266	T	0.37820	-0.9689	10	0.10377	T	0.69	.	8.1656	0.31224	0.0:0.7227:0.1293:0.148	.	744;1548;1548	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	S	1548	ENSP00000396117:A1548S;ENSP00000357315:A1548S;ENSP00000271883:A1548S	ENSP00000271883:A1548S	A	-	1	0	0	GON4L	153999811	153999811	0.018000	0.18449	0.002000	0.10522	0.413000	0.31143	0.570000	0.23653	0.646000	0.30693	-0.291000	0.09656	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_032292			17	17		74	72	1		1	1		0	0	13	0		9.999776e-01	9.994176e-01	0	18	0	41	0	17	74
GON4L	54856	broad.mit.edu	37	1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000368331.1	-	16	2198	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000437809.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	717					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)					AGTGGCCTCCGGATTGAGGTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18176	0.001		0.0	False		,,,				2504	0.0					ENST00000368331.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2149-2151)cCg>cTg		gon-4-like (C. elegans)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	139.0	137.0	138.0		2150,2150	3.0	0.0	1	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GON4L	NM_001037533.1,NM_032292.4	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	717/2241,717/1530	155746214	3,13003	2203	4300	6503	SO:0001583	missense	54856	25	121412	46				g.chr1:155746214G>A	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.2150C>T	chr1.hg19:g.155746214G>A	ENSP00000357315:p.Pro717Leu	1					GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L	p.P717L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	1	2	3	2.190011	Q3T8J9	GON4L_HUMAN		16	2198	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	1	1	hg19	c.2150C>T		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.303	0.613383	0.14066	0.0	3.49E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11063	3.0;3.0;3.0;2.81	4.82	2.97	0.34412	4.82	2.97	0.34412	.	0.400789	0.25006	N	0.033870	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.0;0.001	T	0.43163	-0.9408	10	0.52906	T	0.07	.	5.8545	0.18712	0.1602:0.0:0.686:0.1538	.	717;717;717;717	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	717	ENSP00000396117:P717L;ENSP00000357315:P717L;ENSP00000271883:P717L;ENSP00000354322:P717L	ENSP00000271883:P717L	P	-	2	0	0	GON4L	154012838	154012838	0.784000	0.28713	0.006000	0.13384	0.072000	0.16883	1.749000	0.38319	0.666000	0.31087	0.586000	0.80456	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-3.841702	1	0.170000	NM_032292			73	71		249	240	1		1	1		0	0	63	0		1	9.955854e-01	0	8	0	23	0	73	249
GON4L	54856	broad.mit.edu	37	1	155783530	155783530	+	Silent	SNP	C	C	T	rs368634028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000368331.1	-	10	1395	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000437809.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	449	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)					TTGGAGGGGGCGGGGGCCCCA	0.517																																						ENST00000368331.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1345-1347)ccG>ccA		gon-4-like (C. elegans)		C	,	1,4405	2.1+/-5.4	0,1,2202	66.0	62.0	64.0		1347,1347	-8.9	0.2	1		64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	449/2241,449/1530	155783530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54856	3	121412	33				g.chr1:155783530C>T	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.1347G>A	chr1.hg19:g.155783530C>T		1					GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P	p.P449P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	1	2	3	2.190011	Q3T8J9	GON4L_HUMAN		10	1395	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	1	1	hg19	c.1347G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-4.399249	1	0.170000	NM_032292			76	77		230	226	1		1	1		0	0	50	0		1	9.998602e-01	0	6	0	37	0	76	230
SYT11	23208	broad.mit.edu	37	1	155850386	155850386	+	Silent	SNP	G	G	A	rs370047410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	319	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACACTTGCCGAAGATGGATA	0.517																																						ENST00000368324.4	0.720000	0.360000	6.200000e-01	4.300000e-01	0.520000	0.535157	0.520000	0.510000																										0				20						c.(955-957)ccG>ccA		synaptotagmin XI		G		0,4406		0,0,2203	187.0	173.0	177.0		957	2.2	1.0	1		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYT11	NM_152280.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/432	155850386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23208	1	121412	42				g.chr1:155850386G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.957G>A	chr1.hg19:g.155850386G>A		1					SYT11_ENST00000539162.1_Silent_p.P12P	p.P319P	NM_152280.4	NP_689493.3	1	2	3	2.190011	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)	3	1210	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	1	1	hg19	c.957G>A	CCDS1122.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	0	0	1		18	4	2	1		1	1	144		144	144	1	2.060000	-3.665088	1	0.170000	NM_152280			31	31		727	710	0		1	0		1	0	144	0		9.749273e-01	4.843684e-01	0	0	0	86	0	31	727
SYT11	23208	broad.mit.edu	37	1	155851245	155851245	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	414					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597																																						ENST00000368324.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1240-1242)gtC>gtA		synaptotagmin XI							61.0	68.0	66.0					1																	155851245		2203	4300	6503	SO:0001819	synonymous_variant	23208	0	0					g.chr1:155851245C>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1242C>A	chr1.hg19:g.155851245C>A		1					SYT11_ENST00000539162.1_Silent_p.V107V	p.V414V	NM_152280.4	NP_689493.3	1	2	3	2.190011	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)	4	1495	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	1	1	hg19	c.1242C>A	CCDS1122.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	1	0	0		2	2	2	0		0	0	117		117	115	1	2.060000	-20.000000	1	0.170000	NM_152280			183	181		519	508	0		1	1		0	0	117	0		1	1	0	2	0	68	0	183	519
KIAA0907	22889	broad.mit.edu	37	1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368321.3	-	13	1596	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	525							RNA binding (GO:0003723)			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)			ACTGGAAAGGCTGGTGGAGGC	0.413																																						ENST00000368321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1573-1575)Gcc>Tcc		KIAA0907							212.0	210.0	211.0					1																	155885736		2203	4300	6503	SO:0001583	missense	22889	0	0					g.chr1:155885736C>A	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.1573G>T	chr1.hg19:g.155885736C>A	ENSP00000357304:p.Ala525Ser	1					KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525S	p.A525S	NM_014949.2	NP_055764.2	1	2	3	2.190011	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)	13	1596	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	1	1	hg19	c.1573G>T	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752806	0.49362	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.31769	1.48	6.02	5.09	0.68999	6.02	5.09	0.68999	.	0.263978	0.41097	N	0.000951	T	0.08403	0.0209	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.003	T	0.10894	-1.0610	10	0.23302	T	0.38	-5.3086	14.5869	0.68331	0.2659:0.7341:0.0:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	S	525	ENSP00000357304:A525S	ENSP00000357303:A525S	A	-	1	0	0	KIAA0907	154152360	154152360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.766000	0.38491	1.517000	0.48917	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	1		17	2	2	0		0	1	281		281	279	1	2.060000	-20.000000	1	0.170000	NM_014949			342	322		1011	983	1		1	1		0	0	281	0		1	9.999999e-01	0	17	0	50	0	342	1011
KIAA0907	22889	broad.mit.edu	37	1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368321.3	-	10	1158	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|KIAA0907_ENST00000482337.1_5'UTR|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.G379*	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.						RNA binding (GO:0003723)			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)			CTTGGTACTCCGTAGGGAGGT	0.517																																						ENST00000368321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1135-1137)Gga>Tga		KIAA0907							119.0	108.0	112.0					1																	155891297		2203	4300	6503	SO:0001587	stop_gained	22889	0	0					g.chr1:155891297C>A	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.1135G>T	chr1.hg19:g.155891297C>A	ENSP00000357304:p.Gly379*	1					KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000482337.1_5'UTR	p.G379*	NM_014949.2	NP_055764.2	1	2	3	2.190011	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)	10	1158	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	ENST00000368321.3	0	1	hg19	c.1135G>T	CCDS30885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014091|5.014091	0.93404|0.93404	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.241207|.	0.42548|.	D|.	0.000698|.	.|T	.|0.17789	.|0.0427	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999979|0.999979	.|B	.|0.10296	.|0.003	.|B	.|0.17433	.|0.018	.|T	.|0.07065	.|-1.0792	.|7	0.44086|0.12103	T|T	0.13|0.63	-8.6237|-8.6237	19.2427|19.2427	0.93889|0.93889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|345	.|Q7Z7F0-3	.|.	X|L	379|345	.|.	ENSP00000357303:G379X|ENSP00000357302:R345L	G|R	-|-	1|2	0|0	0|0	KIAA0907|KIAA0907	154157921|154157921	154157921|154157921	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.274000|3.274000	0.51631|0.51631	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GGA|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.723299	1	0.170000	NM_014949			62	60		334	327	0		1	1		0	0	67	0		1	9.995754e-01	0	8	0	56	0	62	334
KIAA0907	22889	broad.mit.edu	37	1	155896514	155896514	+	Missense_Mutation	SNP	C	C	T	rs116935123	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155896514C>T	ENST00000368321.3	-	6	657	c.634G>A	c.(634-636)Gct>Act	p.A212T	KIAA0907_ENST00000368319.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.A212T	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	212							RNA binding (GO:0003723)			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)			GACAACTGAGCGATGGGTGCT	0.438													C|||	10	0.00199681	0.0008	0.0	5008	,	,		19503	0.0079		0.0	False		,,,				2504	0.001					ENST00000368321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(634-636)Gct>Act		KIAA0907		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	149.0	134.0	139.0		634	1.4	0.3	1	dbSNP_132	139	0,8600		0,0,4300	yes	missense	KIAA0907	NM_014949.2	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	212/615	155896514	2,13004	2203	4300	6503	SO:0001583	missense	22889	98	121412	51				g.chr1:155896514C>T	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.634G>A	chr1.hg19:g.155896514C>T	ENSP00000357304:p.Ala212Thr	1					KIAA0907_ENST00000368320.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA	p.A212T	NM_014949.2	NP_055764.2	1	2	3	2.190011	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)	6	657	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	1	0	hg19	c.634G>A	CCDS30885.1	1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	11.01	1.512287	0.27036	4.54E-4	0.0	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.64	1.36	0.22044	5.64	1.36	0.22044	.	0.388899	0.30219	N	0.010137	T	0.04907	0.0132	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.29188	0.089;0.236;0.017;0.004	B;B;B;B	0.17979	0.016;0.02;0.002;0.002	T	0.43798	-0.9369	9	0.11485	T	0.65	-0.1296	9.1808	0.37141	0.0:0.5305:0.0:0.4695	.	212;212;212;212	Q7Z7F0-4;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;K0907_HUMAN	T	212	.	ENSP00000357302:A212T	A	-	1	0	0	KIAA0907	154163138	154163138	0.000000	0.05858	0.344000	0.25628	0.853000	0.48598	-0.919000	0.04017	0.082000	0.17018	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.041230	1	0.170000	NM_014949			112	110		377	365	1		1	1		0	0	92	0		1	9.999999e-01	0	25	0	54	0	112	377
KIAA0907	22889	broad.mit.edu	37	1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368321.3	-	3	342	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.V107L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	107							RNA binding (GO:0003723)			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)			TTAATTTCTACTTCAGCTACC	0.443																																						ENST00000368321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(319-321)Gta>Tta		KIAA0907							163.0	146.0	152.0					1																	155899568		2203	4300	6503	SO:0001583	missense	22889	0	0					g.chr1:155899568C>A	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.319G>T	chr1.hg19:g.155899568C>A	ENSP00000357304:p.Val107Leu	1					KIAA0907_ENST00000368320.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	p.V107L	NM_014949.2	NP_055764.2	1	2	3	2.190011	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)	3	342	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	1	1	hg19	c.319G>T	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.266596	0.95399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.25485	0.75	0.80722	D	1	P;D;P;P;P;P	0.53151	0.851;0.958;0.851;0.936;0.736;0.736	P;P;B;P;B;B	0.54431	0.546;0.752;0.444;0.64;0.422;0.422	T	0.24333	-1.0163	9	0.12430	T	0.62	-11.2924	18.7817	0.91934	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	107	.	ENSP00000357302:V107L	V	-	1	0	0	KIAA0907	154166192	154166192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_014949			57	57		230	224	1		1	1		0	0	44	0		1	9.999678e-01	0	6	0	59	0	57	230
MEX3A	92312	broad.mit.edu	37	1	156046584	156046584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	ENST00000532414.2	-	2	1343	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTGGAGCGGCTCTCCCG	0.746																																						ENST00000532414.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				9						c.(1342-1344)ccG>ccA		mex-3 RNA binding family member A							5.0	6.0	6.0					1																	156046584		1766	3934	5700	SO:0001819	synonymous_variant	92312	0	0					g.chr1:156046584C>T	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.1344G>A	chr1.hg19:g.156046584C>T		1					AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	p.P448P	NM_001093725.1	NP_001087194.1	1	2	3	2.190011	A1L020	MEX3A_HUMAN		2	1343	-	Hepatocellular(266;0.158)|all_neural(408;0.195)			Silent	SNP	ENST00000532414.2	0	1	hg19	c.1344G>A	CCDS53377.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_001093725			12	12		32	32	0		1			0	0	9	0		9.995573e-01	0	0	0	0	0	0	12	32
MEX3A	92312	broad.mit.edu	37	1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	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	289						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627																																						ENST00000532414.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(865-867)gCg>gTg		mex-3 RNA binding family member A							135.0	141.0	139.0					1																	156047062		2157	4251	6408	SO:0001583	missense	92312	0	0					g.chr1:156047062G>A	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.866C>T	chr1.hg19:g.156047062G>A	ENSP00000432845:p.Ala289Val	1					AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	p.A289V	NM_001093725.1	NP_001087194.1	1	2	3	2.190011	A1L020	MEX3A_HUMAN		2	865	-	Hepatocellular(266;0.158)|all_neural(408;0.195)			Missense_Mutation	SNP	ENST00000532414.2	1	1	hg19	c.866C>T	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.145694	0.94603	.	.	ENSG00000254726	ENST00000532414	T	0.44083	0.93	5.3	5.3	0.74995	5.3	5.3	0.74995	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.56434	0.798	T	0.47995	-0.9073	10	0.72032	D	0.01	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	289	A1L020	MEX3A_HUMAN	V	289	ENSP00000432845:A289V	ENSP00000432845:A289V	A	-	2	0	0	MEX3A	154313686	154313686	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.869000	0.99810	2.477000	0.83638	0.313000	0.20887	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_001093725			59	55		294	292	1		1	0		0	0	61	0		1	2.016576e-01	0	0	0	5	0	59	294
MEX3A	92312	broad.mit.edu	37	1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	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	157	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567																																						ENST00000532414.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(469-471)Gcc>Acc		mex-3 RNA binding family member A							31.0	32.0	31.0					1																	156047459		2095	4236	6331	SO:0001583	missense	92312	0	0					g.chr1:156047459C>T	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.469G>A	chr1.hg19:g.156047459C>T	ENSP00000432845:p.Ala157Thr	1					AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	p.A157T	NM_001093725.1	NP_001087194.1	1	2	3	2.190011	A1L020	MEX3A_HUMAN		2	468	-	Hepatocellular(266;0.158)|all_neural(408;0.195)			Missense_Mutation	SNP	ENST00000532414.2	1	1	hg19	c.469G>A	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629529	0.87660	.	.	ENSG00000254726	ENST00000532414	T	0.30448	1.53	5.37	5.37	0.77165	5.37	5.37	0.77165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.17167	-1.0378	10	0.45353	T	0.12	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	157	A1L020	MEX3A_HUMAN	T	157	ENSP00000432845:A157T	ENSP00000432845:A157T	A	-	1	0	0	MEX3A	154314083	154314083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.999000	0.70665	2.527000	0.85204	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	0		2	2	2	0		0	0	17		17	15	1	2.060000	-20.000000	1	0.170000	NM_001093725			29	28		90	88	0		1	0		0	0	17	0		1	6.203730e-01	0	1	0	7	0	29	90
MEX3A	92312	broad.mit.edu	37	1	156047474	156047474	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCTTGCAGCCTGGGATAGGG	0.547																																						ENST00000532414.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.985437	0.990000	1.000000																										0				9						c.e2-1		mex-3 RNA binding family member A							28.0	29.0	28.0					1																	156047474		2067	4218	6285	SO:0001630	splice_region_variant	92312	0	0					g.chr1:156047474C>A	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.455-1G>T	chr1.hg19:g.156047474C>A		1					AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Splice_Site		NM_001093725.1	NP_001087194.1	1	2	3	2.190011	A1L020	MEX3A_HUMAN		2	454	-	Hepatocellular(266;0.158)|all_neural(408;0.195)			Splice_Site	SNP	ENST00000532414.2	0	1	hg19		CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519069	0.64634	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MEX3A	154314098	154314098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	0		2	2	2	0		0	0	18		18	17	1	2.060000	-19.854220	1	0.170000	NM_001093725	Intron		13	13		108	105	1		1			0	0	18	0		9.995666e-01	0	0	0	0	0	0	13	108
SEMA4A	64218	broad.mit.edu	37	1	156130351	156130351	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site	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						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)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537																																						ENST00000368285.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.e7+1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							107.0	79.0	88.0					1																	156130351		2203	4300	6503	SO:0001630	splice_region_variant	64218	0	0					g.chr1:156130351G>A	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.685+1G>A	chr1.hg19:g.156130351G>A		1					SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site		NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	1	2	3	2.190011	Q9H3S1	SEM4A_HUMAN		7	952	+	Hepatocellular(266;0.158)		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	SNP	ENST00000368285.3	1	1	hg19		CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519794	0.85495	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SEMA4A	154396975	154396975	1.000000	0.71417	0.958000	0.39756	0.971000	0.66376	8.819000	0.91997	2.619000	0.88677	0.467000	0.42956	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_022367	Intron		42	41		193	188	1		1			0	0	30	0		1	0	0	0	0	0	0	42	193
SLC25A44	9673	broad.mit.edu	37	1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	113					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517																																						ENST00000359511.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(337-339)cTg>cGg		solute carrier family 25, member 44							78.0	71.0	73.0					1																	156169976		2203	4300	6503	SO:0001583	missense	9673	0	0					g.chr1:156169976T>G	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.338T>G	chr1.hg19:g.156169976T>G	ENSP00000352497:p.Leu113Arg	1					SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R|SLC25A44_ENST00000469537.1_3'UTR	p.L113R	NM_014655.2	NP_055470.1	1	2	3	2.190011	Q96H78	S2544_HUMAN		2	510	+	Hepatocellular(266;0.158)		O75034	Missense_Mutation	SNP	ENST00000359511.4	1	1	hg19	c.338T>G	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434458	0.83776	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;T	0.82526	-1.62;-1.45	5.9	5.9	0.94986	5.9	5.9	0.94986	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000005	D	0.92629	0.7658	H	0.95470	3.675	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.994	D;D;D	0.74348	0.983;0.95;0.976	D	0.94587	0.7784	10	0.87932	D	0	-7.9359	14.2753	0.66175	0.0:0.0:0.0:1.0	.	113;113;113	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	R	113	ENSP00000352497:L113R;ENSP00000407560:L113R	ENSP00000352497:L113R	L	+	2	0	0	SLC25A44	154436600	154436600	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.825000	0.86693	2.254000	0.74563	0.482000	0.46254	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_014655			63	63		197	192	1		1	1		0	0	41	0		1	9.999999e-01	0	23	0	57	0	63	197
PMF1	11243	broad.mit.edu	37	1	156203496	156203496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368273.4	+	3	361	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000368277.3_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TGGAAGAAGGCAAAGTCCGCA	0.458																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368273.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(349-351)ggC>ggT		polyamine-modulated factor 1							105.0	113.0	110.0					1																	156203496		2203	4300	6503	SO:0001819	synonymous_variant	11243	0	0					g.chr1:156203496C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.351C>T	chr1.hg19:g.156203496C>T		1					PMF1_ENST00000368277.3_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G	p.G117G	NM_001199654.1	NP_001186583.1	1	2	3	2.190011				3	361	+	Hepatocellular(266;0.158)			Silent	SNP	ENST00000368273.4	1	1	hg19	c.351C>T	CCDS55648.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	1	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_007221			184	181		495	483	1		1	0		0	0	150	0		1	1	0	0	0	176	0	184	495
SMG5	23381	broad.mit.edu	37	1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	941	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAGGCATCTGCATCCTG	0.547																																						ENST00000361813.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2821-2823)gAt>gGt		SMG5 nonsense mediated mRNA decay factor							224.0	215.0	218.0					1																	156221200		2203	4300	6503	SO:0001583	missense	23381	0	0					g.chr1:156221200T>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2822A>G	chr1.hg19:g.156221200T>C	ENSP00000355261:p.Asp941Gly	1					SMG5_ENST00000368267.5_Intron	p.D941G	NM_015327.2	NP_056142.2	1	2	3	2.190011	Q9UPR3	SMG5_HUMAN		20	2966	-	Hepatocellular(266;0.158)		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	1	1	hg19	c.2822A>G	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898959	0.72754	.	.	ENSG00000198952	ENST00000361813	T	0.33654	1.4	4.56	4.56	0.56223	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.060757	0.64402	D	0.000005	T	0.27489	0.0675	L	0.52573	1.65	0.80722	D	1	P	0.47677	0.899	P	0.45913	0.497	T	0.10636	-1.0621	10	0.66056	D	0.02	-26.2081	13.2101	0.59819	0.0:0.0:0.0:1.0	.	941	Q9UPR3	SMG5_HUMAN	G	941	ENSP00000355261:D941G	ENSP00000355261:D941G	D	-	2	0	0	SMG5	154487824	154487824	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.029000	0.76477	2.062000	0.61559	0.459000	0.35465	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1		2	2	2	0		0	0	188		188	186	1	2.060000	-20.000000	1	0.170000	NM_015327			177	176		851	831	1		1	1		0	0	188	0		1	1	0	5	0	129	0	177	851
SMG5	23381	broad.mit.edu	37	1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Missense_Mutation_p.E246D	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	246					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATAGGCTCCCTCAAAGGACA	0.498																																						ENST00000361813.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(736-738)gaG>gaT		SMG5 nonsense mediated mRNA decay factor							166.0	166.0	166.0					1																	156238182		2203	4300	6503	SO:0001583	missense	23381	0	0					g.chr1:156238182C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.738G>T	chr1.hg19:g.156238182C>A	ENSP00000355261:p.Glu246Asp	1					SMG5_ENST00000368267.5_Missense_Mutation_p.E246D|SMG5_ENST00000489907.2_5'Flank	p.E246D	NM_015327.2	NP_056142.2	1	2	3	2.190011	Q9UPR3	SMG5_HUMAN		8	882	-	Hepatocellular(266;0.158)		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	1	1	hg19	c.738G>T	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463389	0.26248	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.30182	1.54;1.54	6.02	3.03	0.35002	6.02	3.03	0.35002	.	0.099820	0.64402	D	0.000002	T	0.04543	0.0124	N	0.05012	-0.13	0.42050	D	0.991117	B	0.18013	0.025	B	0.15052	0.012	T	0.25187	-1.0139	10	0.14656	T	0.56	-33.8617	8.0339	0.30480	0.0:0.5959:0.0:0.4041	.	246	Q9UPR3	SMG5_HUMAN	D	246	ENSP00000355261:E246D;ENSP00000357250:E246D	ENSP00000355261:E246D	E	-	3	2	2	SMG5	154504806	154504806	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.277000	0.18734	0.812000	0.34326	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1		2	2	2	0		0	0	175		175	172	1	2.060000	-2.601333	1	0.170000	NM_015327			207	202		868	854	1		1	1		0	0	175	0		1	9.999998e-01	0	11	0	79	0	207	868
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522																																						ENST00000361813.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999869	0.990000	1.000000																										0				48						c.(313-315)aGc>aTc		SMG5 nonsense mediated mRNA decay factor							64.0	55.0	58.0					1																	156247016		2203	4300	6503	SO:0001583	missense	23381	0	0					g.chr1:156247016C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.314G>T	chr1.hg19:g.156247016C>A	ENSP00000355261:p.Ser105Ile	1					SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	p.S105I	NM_015327.2	NP_056142.2	1	2	3	2.190011	Q9UPR3	SMG5_HUMAN		4	458	-	Hepatocellular(266;0.158)		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	1	1	hg19	c.314G>T	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	0	SMG5	154513640	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_015327			19	19		102	98	1		1	1		0	0	30	0		9.999926e-01	9.999812e-01	0	5	0	101	0	19	102
C1orf85	112770	broad.mit.edu	37	1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N	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	257					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)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TATTCATCGTCGATGGAGTGC	0.587																																						ENST00000362007.1	0.560000	0.270000	4.800000e-01	3.300000e-01	0.400000	0.412506	0.400000	0.390000																										0				14						c.(769-771)Gac>Aac		chromosome 1 open reading frame 85							117.0	113.0	114.0					1																	156263838		2203	4300	6503	SO:0001583	missense	112770	3	121412	41				g.chr1:156263838C>T	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.769G>A	chr1.hg19:g.156263838C>T	ENSP00000354553:p.Asp257Asn	1					C1orf85_ENST00000482579.1_5'Flank	p.D257N	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	1	2	3	2.190011	Q8WWB7	NCUG1_HUMAN		4	795	-	Hepatocellular(266;0.158)		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	1	1	hg19	c.769G>A	CCDS1139.1	0	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063799	0.76187	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.76328	2.33	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67948	-0.5538	10	0.87932	D	0	-3.9229	16.9635	0.86279	0.0:1.0:0.0:0.0	.	176;257	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	257;171	ENSP00000354553:D257N;ENSP00000357247:D171N	ENSP00000354553:D257N	D	-	1	0	0	C1orf85	154530462	154530462	1.000000	0.71417	0.763000	0.31416	0.327000	0.28475	5.832000	0.69337	2.611000	0.88343	0.462000	0.41574	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	0	0	1		2	2	2	0		0	0	157		157	153	1	2.060000	-3.226785	1	0.170000	NM_144580			30	30		924	909	0		1	1		0	0	157	0		1	9.999505e-01	0	13	0	446	0	30	924
VHLL	391104	broad.mit.edu	37	1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A	rs372668299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602																																						ENST00000339922.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(13-15)gCg>gTg		von Hippel-Lindau tumor suppressor-like		G	VAL/ALA	2,4400		0,2,2199	39.0	44.0	42.0		14	0.4	0.0	1		42	1,8595		0,1,4297	no	missense	VHLL	NM_001004319.2	64	0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	5/140	156268967	3,12995	2201	4298	6499	SO:0001583	missense	391104	4	121044	39				g.chr1:156268967G>A			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.14C>T	chr1.hg19:g.156268967G>A	ENSP00000464258:p.Ala5Val	1						p.A5V	NM_001004319.2	NP_001004319.1	1	2	3	2.190011	Q6RSH7	VHLL_HUMAN		1	461	-	Hepatocellular(266;0.158)		A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	1	1	hg19	c.14C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_001004319			149	149		400	394	1		1			0	0	88	0		1	0	0	0	0	0	0	149	400
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000472765.2_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527																																						ENST00000295688.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1588-1590)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							115.0	118.0	117.0					1																	156279038		2203	4300	6503	SO:0001819	synonymous_variant	7203	1	121412	32				g.chr1:156279038G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	chr1.hg19:g.156279038G>A		1					CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G	p.G530G	NM_005998.4	NP_005989.3	1	2	3	2.190011	P49368	TCPG_HUMAN		14	1870	-	Hepatocellular(266;0.158)		A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	1	1	hg19	c.1590C>T	CCDS1140.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	1	0	1		19	2	2	0		0	1	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_005998			154	151		665	654	1		1	1		0	0	147	0		1	1	0	451	0	1197	0	154	665
CCT3	7203	broad.mit.edu	37	1	156288797	156288797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G|CCT3_ENST00000472765.2_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	207					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCAATGATGCCTCCAGGTA	0.443																																						ENST00000295688.3	1.000000	0.850000	1	9.900000e-01	0.990000	0.989504	0.990000	1.000000																										0				22						c.(619-621)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							75.0	72.0	73.0					1																	156288797		2203	4300	6503	SO:0001819	synonymous_variant	7203	0	0					g.chr1:156288797G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.621C>T	chr1.hg19:g.156288797G>A		1					CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G	p.G207G	NM_005998.4	NP_005989.3	1	2	3	2.190011	P49368	TCPG_HUMAN		8	901	-	Hepatocellular(266;0.158)		A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	1	1	hg19	c.621C>T	CCDS1140.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_005998			28	28		261	253	1		1	1		0	0	49	0		1	1	0	89	0	556	0	28	261
CCT3	7203	broad.mit.edu	37	1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R|CCT3_ENST00000472765.2_Missense_Mutation_p.K33R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	78					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GATCATGGACTTGGCCGCTGG	0.438																																						ENST00000295688.3	0.440000	0.130000	3.600000e-01	1.900000e-01	0.260000	0.279372	0.260000	0.270000																										0				22						c.(232-234)aAg>aGg		chaperonin containing TCP1, subunit 3 (gamma)							120.0	121.0	121.0					1																	156303409		2203	4300	6503	SO:0001583	missense	7203	0	0					g.chr1:156303409T>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.233A>G	chr1.hg19:g.156303409T>C	ENSP00000295688:p.Lys78Arg	1					CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R	p.K78R	NM_005998.4	NP_005989.3	1	2	3	2.190011	P49368	TCPG_HUMAN		5	513	-	Hepatocellular(266;0.158)		A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	1	1	hg19	c.233A>G	CCDS1140.2	0	.	.	.	.	.	.	.	.	.	.	T	31	5.095880	0.94197	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.97110	0.929;1.0;0.984	D	0.90355	0.4369	10	0.87932	D	0	-18.78	12.6112	0.56552	0.0:0.0:0.0:1.0	.	40;78;78	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	78;40;33;33;102;78;64;57;78	ENSP00000295688:K78R;ENSP00000357242:K40R;ENSP00000357244:K33R;ENSP00000431543:K33R;ENSP00000413308:K102R;ENSP00000434232:K78R;ENSP00000388799:K64R;ENSP00000435026:K57R;ENSP00000413431:K78R	ENSP00000295688:K78R	K	-	2	0	0	CCT3	154570033	154570033	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.394000	0.79862	2.234000	0.73211	0.528000	0.53228	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	0	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-3.368573	1	0.170000	NM_005998			11	11		532	521	0		1	1		0	0	105	0		9.981626e-01	9.999819e-01	0	17	0	1051	0	11	532
RHBG	57127	broad.mit.edu	37	1	156339202	156339202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156339202C>T	ENST00000368249.1	+	1	200	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000537040.1_Silent_p.D54D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	54					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTAACGCGGACAATGAATTTT	0.582																																						ENST00000368249.1	1.000000	0.190000	7.500000e-01	3.300000e-01	0.510000	0.544857	0.510000	1.000000																										0				22						c.(160-162)gaC>gaT		Rh family, B glycoprotein (gene/pseudogene)							29.0	31.0	30.0					1																	156339202		1983	4156	6139	SO:0001819	synonymous_variant	57127	0	0					g.chr1:156339202C>T	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.162C>T	chr1.hg19:g.156339202C>T		1					RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	p.D54D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	1	2	3	2.190011	Q9H310	RHBG_HUMAN		1	200	+	Hepatocellular(266;0.158)		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	0	1	hg19	c.162C>T		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	0	0	0		13	2	2	1		1	1	35		35	35	1	2.060000	-8.115687	1	0.170000	NM_001256395			5	5		129	125	0		0			1	0	35	0		3.550425e-02	0	0	0	0	0	0	5	129
RHBG	57127	broad.mit.edu	37	1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	65					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637																																						ENST00000368249.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(193-195)caG>caT		Rh family, B glycoprotein (gene/pseudogene)							119.0	121.0	120.0					1																	156347099		2202	4300	6502	SO:0001583	missense	57127	0	0					g.chr1:156347099G>T	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.195G>T	chr1.hg19:g.156347099G>T	ENSP00000357232:p.Gln65His	1					RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	p.Q65H	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	1	2	3	2.190011	Q9H310	RHBG_HUMAN		2	233	+	Hepatocellular(266;0.158)		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	1	1	hg19	c.195G>T		1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469821	0.84533	.	.	ENSG00000132677	ENST00000368249;ENST00000368246	T;T	0.25085	1.82;1.82	4.86	3.87	0.44632	4.86	3.87	0.44632	Ammonium transporter AmtB-like (3);	0.055699	0.64402	D	0.000001	T	0.48589	0.1508	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	T	0.57207	-0.7851	10	0.87932	D	0	-25.444	8.2552	0.31751	0.1884:0.0:0.8116:0.0	.	65;102	Q9H310;Q5SZW5	RHBG_HUMAN;.	H	65	ENSP00000357232:Q65H;ENSP00000357229:Q65H	ENSP00000357229:Q65H	Q	+	3	2	2	RHBG	154613723	154613723	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.552000	0.60747	2.512000	0.84698	0.561000	0.74099	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-4.712994	1	0.170000	NM_001256395			196	194		681	669	1		1			0	0	145	0		1	0	0	0	0	0	0	196	681
MEF2D	4209	broad.mit.edu	37	1	156437841	156437841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	ENST00000348159.4	-	11	1978	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	500					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|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)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|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)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTCTGGGGCTGGGCGCAGC	0.647																																						ENST00000348159.4	0.600000	0.230000	5.000000e-01	3.000000e-01	0.390000	0.406913	0.390000	0.390000																										0				15						c.(1498-1500)Gcc>Acc		myocyte enhancer factor 2D							55.0	55.0	55.0					1																	156437841		2203	4300	6503	SO:0001583	missense	4209	0	0					g.chr1:156437841C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1498G>A	chr1.hg19:g.156437841C>T	ENSP00000271555:p.Ala500Thr	1					MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T	p.A500T	NM_005920.2	NP_005911.1	1	2	3	2.190011	Q14814	MEF2D_HUMAN		11	1978	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	1	1	hg19	c.1498G>A	CCDS1143.1	0	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395044	0.42512	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.48;0.1;0.1	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.241597	0.35555	N	0.003133	T	0.17365	0.0417	N	0.14661	0.345	0.33201	D	0.552116	B;P;B	0.39282	0.011;0.666;0.041	B;B;B	0.33339	0.005;0.162;0.011	T	0.11275	-1.0594	10	0.46703	T	0.11	-18.3887	4.937	0.13946	0.2118:0.6797:0.0:0.1085	.	505;500;493	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	T	500;499;493;454;493;492	ENSP00000271555:A500T;ENSP00000343159:A499T;ENSP00000357223:A493T;ENSP00000344705:A454T;ENSP00000353803:A493T;ENSP00000388505:A492T	ENSP00000343159:A499T	A	-	1	0	0	MEF2D	154704465	154704465	0.985000	0.35326	1.000000	0.80357	0.956000	0.61745	2.693000	0.47027	2.084000	0.62774	0.313000	0.20887	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	0	0	1		2	2	2	0		0	0	95		95	91	1	2.060000	-3.451539	1	0.170000	NM_005920			16	16		512	502	0		1	1		0	0	95	0		9.999235e-01	9.769453e-01	0	6	0	194	0	16	512
IQGAP3	128239	broad.mit.edu	37	1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					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)			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)					CAGGACGCGCCGCTGCTTCTC	0.642																																						ENST00000361170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(4312-4314)cGg>cAg		IQ motif containing GTPase activating protein 3							52.0	47.0	49.0					1																	156499988		2203	4300	6503	SO:0001583	missense	128239	10	121406	37				g.chr1:156499988C>T	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.4313G>A	chr1.hg19:g.156499988C>T	ENSP00000354451:p.Arg1438Gln	1					snoU13_ENST00000458777.1_RNA	p.R1438Q	NM_178229.4	NP_839943.2	1	2	3	2.190011	Q86VI3	IQGA3_HUMAN		34	4323	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	1	1	hg19	c.4313G>A	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033213	0.35893	.	.	ENSG00000183856	ENST00000361170	T	0.45276	0.9	4.5	0.432	0.16529	4.5	0.432	0.16529	RasGAP protein, C-terminal (1);	0.204155	0.40554	N	0.001067	T	0.12902	0.0313	L	0.41710	1.295	0.32173	N	0.581325	B	0.23377	0.084	B	0.15052	0.012	T	0.11227	-1.0596	10	0.34782	T	0.22	-8.4963	8.3785	0.32457	0.0:0.6506:0.0:0.3494	.	1438	Q86VI3	IQGA3_HUMAN	Q	1438	ENSP00000354451:R1438Q	ENSP00000354451:R1438Q	R	-	2	0	0	IQGAP3	154766612	154766612	0.000000	0.05858	0.014000	0.15608	0.441000	0.31987	0.238000	0.18004	-0.076000	0.12775	-0.258000	0.10820	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1		2	2	2	0		0	0	22		22	19	1	2.060000	-20.000000	1	0.170000	NM_178229			30	28		100	94	1		1	1		0	0	22	0		1	9.473054e-01	0	6	0	13	0	30	100
IQGAP3	128239	broad.mit.edu	37	1	156501021	156501021	+	Silent	SNP	G	G	A	rs201700249	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1374					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)			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)					GTATGATATCGGCCAACAGCT	0.592													G|||	32	0.00638978	0.0	0.0	5008	,	,		20641	0.001		0.0	False		,,,				2504	0.0317					ENST00000361170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(4120-4122)gcC>gcT		IQ motif containing GTPase activating protein 3							138.0	124.0	128.0					1																	156501021		2203	4300	6503	SO:0001819	synonymous_variant	128239	373	121412	56				g.chr1:156501021G>A	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.4122C>T	chr1.hg19:g.156501021G>A		1					snoU13_ENST00000458777.1_RNA	p.A1374A	NM_178229.4	NP_839943.2	1	2	3	2.190011	Q86VI3	IQGA3_HUMAN		33	4132	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Q5T3H8	Silent	SNP	ENST00000361170.2	1	1	hg19	c.4122C>T	CCDS1144.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-6.722394	1	0.170000	NM_178229			131	130		364	352	1		1	1		0	0	92	0		1	9.994996e-01	0	17	0	17	0	131	364
IQGAP3	128239	broad.mit.edu	37	1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1244					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)			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)					CTGAACTTGAGGTGTGTTTCC	0.562																																						ENST00000361170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(3730-3732)Ctc>Ttc		IQ motif containing GTPase activating protein 3							110.0	93.0	98.0					1																	156504303		2203	4300	6503	SO:0001583	missense	128239	0	0					g.chr1:156504303G>A	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.3730C>T	chr1.hg19:g.156504303G>A	ENSP00000354451:p.Leu1244Phe	1					IQGAP3_ENST00000498755.1_5'Flank	p.L1244F	NM_178229.4	NP_839943.2	1	2	3	2.190011	Q86VI3	IQGA3_HUMAN		29	3740	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	1	1	hg19	c.3730C>T	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962745	0.18583	.	.	ENSG00000183856	ENST00000361170	D	0.82167	-1.58	5.15	3.24	0.37175	5.15	3.24	0.37175	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	1.032550	0.07629	N	0.928249	T	0.61160	0.2325	L	0.54323	1.7	0.28454	N	0.91623	B	0.24258	0.1	B	0.18561	0.022	T	0.54860	-0.8230	10	0.56958	D	0.05	-2.5708	2.0226	0.03512	0.1698:0.159:0.5066:0.1646	.	1244	Q86VI3	IQGA3_HUMAN	F	1244	ENSP00000354451:L1244F	ENSP00000354451:L1244F	L	-	1	0	0	IQGAP3	154770927	154770927	0.000000	0.05858	0.908000	0.35775	0.987000	0.75469	-0.196000	0.09532	0.715000	0.32103	0.563000	0.77884	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.720150	1	0.170000	NM_178229			45	45		168	165	1		1	1		0	0	40	0		1	8.973001e-01	0	3	0	14	0	45	168
IQGAP3	128239	broad.mit.edu	37	1	156518421	156518421	+	Missense_Mutation	SNP	C	C	T	rs77834544	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156518421C>T	ENST00000361170.2	-	17	1955	c.1945G>A	c.(1945-1947)Ggc>Agc	p.G649S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	649					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)			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)					CGCTGGTAGCCGTTGGCACAG	0.617													C|||	29	0.00579073	0.0212	0.0014	5008	,	,		18497	0.0		0.0	False		,,,				2504	0.0					ENST00000361170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1945-1947)Ggc>Agc		IQ motif containing GTPase activating protein 3		C	SER/GLY	92,4314	76.2+/-114.5	1,90,2112	119.0	91.0	101.0		1945	-2.1	0.0	1	dbSNP_131	101	0,8600		0,0,4300	yes	missense	IQGAP3	NM_178229.4	56	1,90,6412	TT,TC,CC		0.0,2.0881,0.7074	benign	649/1632	156518421	92,12914	2203	4300	6503	SO:0001583	missense	128239	244	121412	58				g.chr1:156518421C>T	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.1945G>A	chr1.hg19:g.156518421C>T	ENSP00000354451:p.Gly649Ser	1						p.G649S	NM_178229.4	NP_839943.2	1	2	3	2.190011	Q86VI3	IQGA3_HUMAN		17	1955	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	1	0	hg19	c.1945G>A	CCDS1144.1	1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	0.034	-1.315087	0.01331	0.020881	0.0	ENSG00000183856	ENST00000361170	T	0.05786	3.39	4.7	-2.13	0.07144	4.7	-2.13	0.07144	.	0.503962	0.21193	N	0.078609	T	0.00608	0.0020	N	0.03177	-0.4	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.35176	-0.9799	10	0.08179	T	0.78	-4.4028	9.4457	0.38695	0.0:0.4748:0.0:0.5252	.	649	Q86VI3	IQGA3_HUMAN	S	649	ENSP00000354451:G649S	ENSP00000354451:G649S	G	-	1	0	0	IQGAP3	154785045	154785045	0.000000	0.05858	0.006000	0.13384	0.118000	0.20060	-0.258000	0.08733	-0.889000	0.03950	-0.258000	0.10820	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-2.494375	0	0.170000	NM_178229			116	114		371	358	1		1	1		0	0	84	0		1	9.486042e-01	0	8	0	10	0	116	371
TTC24	164118	broad.mit.edu	37	1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G	rs371550971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368237.3	+	2	867	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	289										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617																																						ENST00000368237.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(865-867)taT>taG		tetratricopeptide repeat domain 24							41.0	42.0	42.0					1																	156552183		1907	4128	6035	SO:0001587	stop_gained	164118	0	0					g.chr1:156552183T>G		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.867T>G	chr1.hg19:g.156552183T>G	ENSP00000357220:p.Tyr289*	1					TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*	p.Y289*			1	2	3	2.190011	A2A3L6	TTC24_HUMAN		2	867	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	0	1	hg19	c.867T>G	CCDS53379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.357375|4.357375	0.82243|0.82243	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.38|4.38	-1.59|-1.59	0.08453|0.08453	4.38|4.38	-1.59|-1.59	0.08453|0.08453	.|.	.|0.322824	.|0.22670	.|N	.|0.057070	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19778|.	-1.0295|.	3|.	.|.	.|.	.|.	-7.8739|-7.8739	9.9833|9.9833	0.41826|0.41826	0.0:0.5843:0.0:0.4157|0.0:0.5843:0.0:0.4157	.|.	.|.	.|.	.|.	S|X	62;54|289	.|.	.|.	I|Y	+|+	2|3	0|2	0|2	TTC24|TTC24	154818807|154818807	154818807|154818807	0.000000|0.000000	0.05858|0.05858	0.830000|0.830000	0.32933|0.32933	0.834000|0.834000	0.47266|0.47266	-0.407000|-0.407000	0.07178|0.07178	-0.152000|-0.152000	0.11156|0.11156	0.379000|0.379000	0.24179|0.24179	ATC|TAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	XM_089384			33	31		120	118	1		1	0		0	0	28	0		1	4.921423e-02	0	0	0	2	0	33	120
APOA1BP	128240	broad.mit.edu	37	1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.C211C	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532																																						ENST00000368235.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(688-690)gCt>gTt		apolipoprotein A-I binding protein							119.0	120.0	120.0					1																	156563698		2203	4300	6503	SO:0001583	missense	128240	1	121412	39				g.chr1:156563698C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.689C>T	chr1.hg19:g.156563698C>T	ENSP00000357218:p.Ala230Val	1					GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.C211C	p.A230V	NM_144772.2	NP_658985.2	1	2	3	2.190011				6	732	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)			Missense_Mutation	SNP	ENST00000368235.3	1	1	hg19	c.689C>T	CCDS1145.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711231	0.48517	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.37411	1.2	4.86	4.86	0.63082	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.473392	0.23176	N	0.051061	T	0.12135	0.0295	N	0.12663	0.25	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.06881	-1.0802	10	0.23302	T	0.38	.	16.5957	0.84795	0.0:1.0:0.0:0.0	.	230	Q8NCW5	AIBP_HUMAN	V	248;230	ENSP00000357218:A230V	ENSP00000357218:A230V	A	+	2	0	0	APOA1BP	154830322	154830322	0.432000	0.25554	0.553000	0.28255	0.656000	0.38851	4.888000	0.63164	2.223000	0.72356	0.563000	0.77884	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	1	0	1		2	2	2	0		0	0	187		187	185	1	2.060000	-20.000000	1	0.170000	NM_144772			196	192		681	670	1		1	1		0	0	187	0		1	1	0	233	0	305	0	196	681
BCAN	63827	broad.mit.edu	37	1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	158	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			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)					CACAGGGGTCGTCTTTCTCTA	0.627																																						ENST00000329117.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(472-474)Gtc>Atc		brevican							45.0	47.0	46.0					1																	156617305		2203	4300	6503	SO:0001583	missense	63827	4	121342	35				g.chr1:156617305G>A	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.472G>A	chr1.hg19:g.156617305G>A	ENSP00000331210:p.Val158Ile	1					RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V158I	p.V158I	NM_021948.4	NP_068767.3	1	2	3	2.190011	Q96GW7	PGCB_HUMAN		4	808	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	1	1	hg19	c.472G>A	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667133	0.88251	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.15	4.15	0.48705	4.15	4.15	0.48705	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.51477	D	0.000090	T	0.36220	0.0959	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;P	0.74674	0.984;0.888	T	0.29212	-1.0019	10	0.72032	D	0.01	-24.0919	15.1361	0.72566	0.0:0.0:1.0:0.0	.	158;158	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	158;158;56;158	ENSP00000331210:V158I;ENSP00000389898:V158I;ENSP00000401709:V56I;ENSP00000354925:V158I	ENSP00000331210:V158I	V	+	1	0	0	BCAN	154883929	154883929	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.494000	0.97962	2.120000	0.65058	0.442000	0.29010	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_021948			49	48		244	240	1		1			0	0	45	0		1	0	0	0	0	0	0	49	244
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			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)					AAGCACAGCCGCTTCAACGTC	0.572																																						ENST00000329117.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1039-1041)cGc>cAc		brevican							85.0	87.0	86.0					1																	156618630		2203	4299	6502	SO:0001583	missense	63827	0	0					g.chr1:156618630G>A	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.1040G>A	chr1.hg19:g.156618630G>A	ENSP00000331210:p.Arg347His	1					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	p.R347H	NM_021948.4	NP_068767.3	1	2	3	2.190011	Q96GW7	PGCB_HUMAN		6	1376	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	1	1	hg19	c.1040G>A	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	0	BCAN	154885254	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	0	0	1		2	2	2	0		0	0	157		157	153	1	2.060000	-20.000000	1	0.170000	NM_021948			225	225		624	617	1		1	0		0	0	157	0		1	0	0	1	0	0	0	225	624
NES	10763	broad.mit.edu	37	1	156639369	156639369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	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)			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)					TGGGACCCTGGCCATTAACAC	0.577																																						ENST00000368223.3	1.000000	0.770000	1	9.000000e-01	0.990000	0.965678	0.990000	1.000000																										0				64						c.(4609-4611)ggC>ggA		nestin							100.0	84.0	90.0					1																	156639369		2203	4300	6503	SO:0001819	synonymous_variant	10763	0	0					g.chr1:156639369G>T	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.4611C>A	chr1.hg19:g.156639369G>T		1						p.G1537G	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	4743	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	1	1	hg19	c.4611C>A	CCDS1151.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-12.115210	1	0.170000	NM_006617			44	43		493	474	0		1	0		0	0	115	0		1	9.999654e-01	0	1	0	169	0	44	493
NES	10763	broad.mit.edu	37	1	156639791	156639791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1397	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)			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)					GGATCCAGTAGCAGCTGGGGC	0.602																																						ENST00000368223.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(4189-4191)Cta>Tta		nestin							32.0	37.0	35.0					1																	156639791		2203	4299	6502	SO:0001819	synonymous_variant	10763	0	0					g.chr1:156639791G>A	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.4189C>T	chr1.hg19:g.156639791G>A		1						p.L1397L	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	4321	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	1	1	hg19	c.4189C>T	CCDS1151.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_006617			72	70		237	230	1		1	0		0	0	68	0		1	1	0	0	0	101	0	72	237
NES	10763	broad.mit.edu	37	1	156640644	156640644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1112	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)			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)					TGGTCAGATGGCCTGGGTCCC	0.642																																						ENST00000368223.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				64						c.(3334-3336)ggC>ggT		nestin							33.0	35.0	34.0					1																	156640644		2202	4299	6501	SO:0001819	synonymous_variant	10763	0	0					g.chr1:156640644G>A	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.3336C>T	chr1.hg19:g.156640644G>A		1						p.G1112G	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	3468	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	1	1	hg19	c.3336C>T	CCDS1151.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_006617			45	44		266	264	0		1	0		0	0	45	0		1	4.932953e-01	0	0	0	11	0	45	266
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	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)			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)					TGAGCCAGTTCTTGGTCCTTC	0.567																																						ENST00000368223.3	1.000000	0.880000	1	9.600000e-01	0.990000	0.987188	0.990000	1.000000																										0				64						c.(2878-2880)Gaa>Taa		nestin							198.0	210.0	206.0					1																	156641102		2203	4300	6503	SO:0001587	stop_gained	10763	0	0					g.chr1:156641102C>A	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.2878G>T	chr1.hg19:g.156641102C>A	ENSP00000357206:p.Glu960*	1						p.E960*	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	3010	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	0	1	hg19	c.2878G>T	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.592787	0.98378	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.255042	0.20715	N	0.087003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3428	0.87301	0.0:1.0:0.0:0.0	.	.	.	.	X	960	.	ENSP00000357206:E960X	E	-	1	0	0	NES	154907726	154907726	0.046000	0.20272	0.009000	0.14445	0.016000	0.09150	3.680000	0.54641	2.454000	0.82982	0.563000	0.77884	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	0	0	1		19	4	2	1		1	1	279		279	277	1	2.060000	-20.000000	1	0.170000	NM_006617			125	125		1383	1345	0		1	0		1	0	279	0		1	9.997088e-01	0	0	0	177	0	125	1383
NES	10763	broad.mit.edu	37	1	156641406	156641406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	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)			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)					GATTCATTGCCCCCTGATTTA	0.448																																						ENST00000368223.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998792	0.990000	1.000000																										0				64						c.(2572-2574)ggG>ggA		nestin							105.0	107.0	107.0					1																	156641406		2203	4300	6503	SO:0001819	synonymous_variant	10763	0	0					g.chr1:156641406C>T	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.2574G>A	chr1.hg19:g.156641406C>T		1						p.G858G	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	2706	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	1	1	hg19	c.2574G>A	CCDS1151.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-18.519760	1	0.170000	NM_006617			60	57		537	526	0		1	0		0	0	94	0		1	9.988704e-01	0	0	0	91	0	60	537
NES	10763	broad.mit.edu	37	1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	700	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)			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)					AGAGACCTCAGGGGTTCCTGA	0.468																																						ENST00000368223.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2098-2100)Ctg>Atg		nestin							69.0	66.0	67.0					1																	156641882		2203	4300	6503	SO:0001583	missense	10763	0	0					g.chr1:156641882G>T	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.2098C>A	chr1.hg19:g.156641882G>T	ENSP00000357206:p.Leu700Met	1						p.L700M	NM_006617.1	NP_006608.1	1	2	3	2.190011	P48681	NEST_HUMAN		4	2230	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	1	1	hg19	c.2098C>A	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215857	0.58452	.	.	ENSG00000132688	ENST00000368223	D	0.88896	-2.44	5.4	2.47	0.30058	5.4	2.47	0.30058	.	0.809762	0.09720	N	0.764638	T	0.81088	0.4750	L	0.52573	1.65	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.69888	-0.5023	10	0.49607	T	0.09	.	8.9551	0.35812	0.0785:0.2821:0.6394:0.0	.	700	P48681	NEST_HUMAN	M	700	ENSP00000357206:L700M	ENSP00000357206:L700M	L	-	1	2	2	NES	154908506	154908506	0.222000	0.23652	0.000000	0.03702	0.231000	0.25187	0.619000	0.24388	0.248000	0.21435	0.563000	0.77884	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-6.901265	1	0.170000	NM_006617			102	100		264	261	1		1	0		0	0	46	0		1	1	0	0	0	93	0	102	264
CRABP2	1382	broad.mit.edu	37	1	156670843	156670843	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	24					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	TCACATTCACCCCTGTGGGGA	0.542																																						ENST00000368222.3	1.000000	0.650000	1	8.100000e-01	0.990000	0.929800	0.990000	1.000000																										0				6						c.(70-72)ggG>ggA		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)|Tretinoin(DB00755)						74.0	65.0	68.0					1																	156670843		2203	4300	6503	SO:0001630	splice_region_variant	1382	1	121412	32				g.chr1:156670843C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.71-1G>A	chr1.hg19:g.156670843C>T		1					CRABP2_ENST00000368221.1_Splice_Site_p.G24G	p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	1	2	3	2.190011	P29373	RABP2_HUMAN		2	226	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		B2R4Z8|D3DVC5|F1T098|Q6ICN6	Splice_Site	SNP	ENST00000368222.3	1	0	hg19	c.72G>A	CCDS1152.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001878	Silent		22	22		260	254	0		1	0		0	0	69	0		9.999987e-01	6.218181e-01	0	0	0	26	0	22	260
ISG20L2	81875	broad.mit.edu	37	1	156694029	156694029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156694029G>T	ENST00000313146.6	-	2	1641	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	ISG20L2_ENST00000368219.1_Missense_Mutation_p.P287T|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	287	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAGGGGGGGGATATGGGAG	0.557																																						ENST00000313146.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995256	0.990000	1.000000																										0				16						c.(859-861)Ccc>Acc		interferon stimulated exonuclease gene 20kDa-like 2							86.0	91.0	89.0					1																	156694029		2203	4300	6503	SO:0001583	missense	81875	0	0					g.chr1:156694029G>T	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.859C>A	chr1.hg19:g.156694029G>T	ENSP00000323424:p.Pro287Thr	1					ISG20L2_ENST00000368219.1_Missense_Mutation_p.P287T|ISG20L2_ENST00000472824.2_5'UTR	p.P287T	NM_030980.1	NP_112242.1	1	2	3	2.190011	Q9H9L3	I20L2_HUMAN		2	1641	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	1	0	hg19	c.859C>A	CCDS1153.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326395	0.81690	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	5.73	5.73	0.89815	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.061390	0.64402	D	0.000003	T	0.49081	0.1536	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.30765	-0.9967	10	0.24483	T	0.36	.	18.4663	0.90757	0.0:0.0:1.0:0.0	.	287	Q9H9L3	I20L2_HUMAN	T	287	ENSP00000323424:P287T;ENSP00000357202:P287T	ENSP00000323424:P287T	P	-	1	0	0	ISG20L2	154960653	154960653	1.000000	0.71417	0.206000	0.23566	0.874000	0.50279	9.332000	0.96446	2.722000	0.93159	0.655000	0.94253	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-15.152970	1	0.170000	NM_030980			51	50		486	463	1		1	1		0	0	82	0		1	9.999995e-01	0	22	0	180	0	51	486
HDGF	3068	broad.mit.edu	37	1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587																																						ENST00000357325.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(292-294)tCc>tAc		hepatoma-derived growth factor							115.0	113.0	114.0					1																	156714810		2203	4300	6503	SO:0001583	missense	3068	0	0					g.chr1:156714810G>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.293C>A	chr1.hg19:g.156714810G>T	ENSP00000349878:p.Ser98Tyr	1					HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y	p.S98Y	NM_004494.2	NP_004485.1	1	2	3	2.190011	P51858	HDGF_HUMAN		3	607	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	1	1	hg19	c.293C>A	CCDS1156.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.472347|2.472347	0.43942|0.43942	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000406805|ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	4.51|4.51	4.51|4.51	0.55191|0.55191	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.172694	.|0.40908	.|U	.|0.001000	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.72353|0.72353	2.195|2.195	0.31276|0.31276	N|N	0.691222|0.691222	.|D;P;D;D;D	.|0.61080	.|0.989;0.902;0.989;0.989;0.963	.|P;P;P;P;P	.|0.56916	.|0.809;0.761;0.809;0.809;0.703	T|T	0.74241|0.74241	-0.3729|-0.3729	6|10	0.12103|0.87932	T|D	0.63|0	-8.5412|-8.5412	14.8085|14.8085	0.69977|0.69977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;98;114;91;98	.|B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.|.;.;.;.;HDGF_HUMAN	T|Y	98|98;91;98;66;114	.|ENSP00000349878:S98Y;ENSP00000357192:S91Y;ENSP00000443120:S98Y;ENSP00000416752:S66Y;ENSP00000357189:S114Y	ENSP00000438398:P98T|ENSP00000349878:S98Y	P|S	-|-	1|2	0|0	0|0	HDGF|HDGF	154981434|154981434	154981434|154981434	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.493000|0.493000	0.33554|0.33554	5.138000|5.138000	0.64795|0.64795	2.378000|2.378000	0.81104|0.81104	0.306000|0.306000	0.20318|0.20318	CCG|TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	1	0	0		2	2	2	0		0	0	106		106	103	1	2.060000	-20.000000	1	0.170000	NM_004494			131	129		461	451	1		1	1		0	0	106	0		1	1	0	965	0	1259	0	131	461
PRCC	5546	broad.mit.edu	37	1	156764479	156764479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156764479G>T	ENST00000271526.4	+	5	1474	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	401					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGCAAGAGGAACCGAGGG	0.478			T	TFE3	papillary renal																																	ENST00000271526.4	0.880000	0.230000	6.900000e-01	3.500000e-01	0.500000	0.525316	0.500000	0.480000				Dom	yes			Dom	yes		1	1q21.1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)				E	E	TFE3		papillary renal	PRCC/TFE3(25)	0				15						c.(1201-1203)aGg>aTg		papillary renal cell carcinoma (translocation-associated)							62.0	64.0	63.0					1																	156764479		2203	4300	6503	SO:0001583	missense	5546	0	0					g.chr1:156764479G>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1202G>T	chr1.hg19:g.156764479G>T	ENSP00000271526:p.Arg401Met	1					PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	p.R401M	NM_005973.4	NP_005964.3	1	2	3	2.190011	Q92733	PRCC_HUMAN		5	1474	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	1	1	hg19	c.1202G>T	CCDS1157.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956318|3.956318	0.73902|0.73902	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.83|4.83	4.83|4.83	0.62350|0.62350	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.059757	.|0.64402	.|D	.|0.000003	.|T	.|0.42966	.|0.1226	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.76494	.|0.999;0.991	.|P;P	.|0.59825	.|0.864;0.747	.|T	.|0.48614	.|-0.9020	.|10	.|0.66056	.|D	.|0.02	-14.926|-14.926	16.6585|16.6585	0.85235|0.85235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369;401	.|A6NG79;Q92733	.|.;PRCC_HUMAN	X|M	167|401;369;377;108	.|ENSP00000271526:R401M;ENSP00000339300:R369M;ENSP00000434762:R108M	.|ENSP00000271526:R401M	G|R	+|+	1|2	0|0	0|0	PRCC|PRCC	155031103|155031103	155031103|155031103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	6.798000|6.798000	0.75155|0.75155	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GGA|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-10.021490	1	0.170000	NM_005973			8	8		205	200	0		1	1		0	0	43	0		9.887254e-01	9.915587e-01	0	12	0	211	0	8	205
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T	rs367900320		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000368199.3	-	7	904	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	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	251	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)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15171	0.0		0.0	False		,,,				2504	0.001					ENST00000368199.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(751-753)Gcc>Acc		SH2 domain containing 2A		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	54.0	62.0	59.0		781,697,667,751,751	3.0	0.4	1		59	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SH2D2A	NM_001161441.1,NM_001161442.1,NM_001161443.1,NM_001161444.1,NM_003975.3	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	261/400,233/372,223/362,251/390,251/390	156779246	1,13005	2203	4300	6503	SO:0001583	missense	9047	4	121412	37				g.chr1:156779246C>T	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.751G>A	chr1.hg19:g.156779246C>T	ENSP00000357182:p.Ala251Thr	1					SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	p.A251T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	1	2	3	2.190011	Q9NP31	SH22A_HUMAN		7	904	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	1	1	hg19	c.751G>A	CCDS1159.1	1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312911	0.40895	2.27E-4	0.0	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60920	0.19;0.15;0.6	3.92	3.0	0.34707	3.92	3.0	0.34707	.	0.769781	0.11950	N	0.513770	T	0.34193	0.0889	L	0.34521	1.04	0.21984	N	0.999432	D;D;D	0.61697	0.99;0.983;0.983	P;B;B	0.49192	0.602;0.397;0.397	T	0.05289	-1.0894	10	0.33141	T	0.24	-9.6279	9.5505	0.39306	0.0:0.8926:0.0:0.1074	.	261;233;251	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	251;233;261	ENSP00000357182:A251T;ENSP00000357181:A233T;ENSP00000376123:A261T	ENSP00000357181:A233T	A	-	1	0	0	SH2D2A	155045870	155045870	0.704000	0.27836	0.424000	0.26647	0.690000	0.40134	1.018000	0.30002	0.984000	0.38629	-0.266000	0.10368	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	1	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-2.416290	0	0.170000	NM_003975			104	99		483	466	1		1	1		0	0	75	0		1	9.966253e-01	0	2	0	40	0	104	483
INSRR	3645	broad.mit.edu	37	1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	958					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)			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)					AAGTACTCTGGATTCACAGAA	0.537																																						ENST00000368195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2872-2874)Cca>Aca		insulin receptor-related receptor							162.0	167.0	165.0					1																	156813243		2203	4300	6503	SO:0001583	missense	3645	0	0					g.chr1:156813243G>T	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.2872C>A	chr1.hg19:g.156813243G>T	ENSP00000357178:p.Pro958Thr	1					NTRK1_ENST00000392302.2_Intron	p.P958T	NM_014215.2	NP_055030.1	1	2	3	2.190011	P14616	INSRR_HUMAN		16	3268	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	1	1	hg19	c.2872C>A	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524442	0.85600	.	.	ENSG00000027644	ENST00000368195	D	0.88975	-2.45	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000275	D	0.93654	0.7973	.	.	.	0.58432	D	0.999997	D	0.71674	0.998	D	0.74348	0.983	D	0.94153	0.7407	9	0.87932	D	0	.	16.0824	0.81014	0.0:0.0:1.0:0.0	.	958	P14616	INSRR_HUMAN	T	958	ENSP00000357178:P958T	ENSP00000357178:P958T	P	-	1	0	0	INSRR	155079867	155079867	1.000000	0.71417	0.880000	0.34516	0.970000	0.65996	6.042000	0.70996	2.649000	0.89929	0.591000	0.81541	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	1	0	1		2	2	2	0		0	0	219		219	216	1	2.060000	-20.000000	1	0.170000	NM_014215			196	192		986	952	1		1			0	0	219	0		1	0	0	0	0	0	0	196	986
INSRR	3645	broad.mit.edu	37	1	156819222	156819222	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	420					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)			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)					GTTGTAGGTTCTGGTTGTCCA	0.622																																						ENST00000368195.3	0.770000	0.370000	6.700000e-01	4.600000e-01	0.550000	0.571009	0.550000	0.550000																										0				42						c.(1258-1260)caG>caA		insulin receptor-related receptor							75.0	76.0	75.0					1																	156819222		2203	4300	6503	SO:0001819	synonymous_variant	3645	0	0					g.chr1:156819222C>T	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.1260G>A	chr1.hg19:g.156819222C>T		1					NTRK1_ENST00000392302.2_Intron	p.Q420Q	NM_014215.2	NP_055030.1	1	2	3	2.190011	P14616	INSRR_HUMAN		6	1656	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	1	1	hg19	c.1260G>A	CCDS1160.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.314080	1	0.170000	NM_014215			28	28		615	603	0		1			0	0	95	0		1	0	0	0	0	0	0	28	615
NTRK1	4914	broad.mit.edu	37	1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000524377.1	+	16	2242	c.2201C>T	c.(2200-2202)aCg>aTg	p.T734M	NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|NTRK1_ENST00000368196.3_Missense_Mutation_p.T728M|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCTCCAACACGGAGGTCAGC	0.622			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000524377.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q21-q22	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""				E	E	TPM3, TPR, TFG		papillary thyroid		0				74						c.(2200-2202)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 1	Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)						71.0	66.0	67.0					1																	156849945		2203	4300	6503	SO:0001583	missense	4914	6	121408	37				g.chr1:156849945C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2201C>T	chr1.hg19:g.156849945C>T	ENSP00000431418:p.Thr734Met	1	TSP Lung(10;0.080)				NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000368196.3_Missense_Mutation_p.T728M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M	p.T734M	NM_002529.3	NP_002520.2	1	2	3	2.190011	P04629	NTRK1_HUMAN		16	2242	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	1	1	hg19	c.2201C>T	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762238	0.49468	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.08	4.08	0.47627	4.08	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108957	0.40908	D	0.000983	T	0.78407	0.4278	N	0.12502	0.225	0.45318	D	0.998313	P;B;D;D	0.89917	0.539;0.256;0.999;1.0	B;B;P;D	0.72075	0.164;0.041;0.807;0.976	T	0.82376	-0.0488	10	0.48119	T	0.1	.	15.3924	0.74755	0.0:1.0:0.0:0.0	.	731;728;734;698	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	698;728;734;731	ENSP00000376120:T698M;ENSP00000357179:T728M;ENSP00000431418:T734M;ENSP00000351486:T731M	ENSP00000351486:T731M	T	+	2	0	0	NTRK1	155116569	155116569	0.083000	0.21467	0.992000	0.48379	0.801000	0.45260	0.449000	0.21744	2.273000	0.75805	0.561000	0.74099	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_002529			71	71		384	379	1		1	0		0	0	61	0		1	2.511156e-02	0	0	0	2	0	71	384
PEAR1	375033	broad.mit.edu	37	1	156876547	156876547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	173					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632																																						ENST00000338302.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(517-519)aaC>aaT		platelet endothelial aggregation receptor 1							140.0	121.0	127.0					1																	156876547		2203	4300	6503	SO:0001819	synonymous_variant	375033	0	0					g.chr1:156876547C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.519C>T	chr1.hg19:g.156876547C>T		1					PEAR1_ENST00000292357.7_Silent_p.N173N	p.N173N			1	2	3	2.190011	Q5VY43	PEAR1_HUMAN		7	744	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Q8TEK2	Silent	SNP	ENST00000338302.3	1	1	hg19	c.519C>T	CCDS30892.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	1	0	1		2	3	2	1		1	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_001080471			150	148		477	462	1		1	1		1	0	100	0		1	9.869693e-01	0	3	0	28	0	150	477
ARHGEF11	9826	broad.mit.edu	37	1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000361409.2	-	31	3725	c.2983C>A	c.(2983-2985)Ctg>Atg	p.L995M	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1035M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	995	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562																																						ENST00000361409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2983-2985)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 11							111.0	101.0	105.0					1																	156913859		2203	4300	6503	SO:0001583	missense	9826	0	0					g.chr1:156913859G>T	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.2983C>A	chr1.hg19:g.156913859G>T	ENSP00000354644:p.Leu995Met	1					ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1035M	p.L995M	NM_014784.3	NP_055599.1	1	2	3	2.190011	O15085	ARHGB_HUMAN		31	3725	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	1	1	hg19	c.2983C>A	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736121	0.69189	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	1.18	0.20946	5.18	1.18	0.20946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.42682	D	0.000677	T	0.75649	0.3878	M	0.88775	2.98	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77208	-0.2672	10	0.72032	D	0.01	-11.0609	8.5813	0.33630	0.3803:0.0:0.6197:0.0	.	411;995;1035	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1035;995;411	ENSP00000357177:L1035M;ENSP00000354644:L995M;ENSP00000313470:L411M	ENSP00000313470:L411M	L	-	1	2	2	ARHGEF11	155180483	155180483	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.756000	0.47549	0.345000	0.23873	0.561000	0.74099	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_198236			76	75		449	440	1		1	1		0	0	94	0		1	9.997438e-01	0	17	0	56	0	76	449
ARHGEF11	9826	broad.mit.edu	37	1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000361409.2	-	15	1916	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R432W	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	392	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577																																						ENST00000361409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1174-1176)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 11							71.0	61.0	65.0					1																	156928923		2203	4300	6503	SO:0001583	missense	9826	5	121412	37				g.chr1:156928923G>A	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.1174C>T	chr1.hg19:g.156928923G>A	ENSP00000354644:p.Arg392Trp	1					ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R432W	p.R392W	NM_014784.3	NP_055599.1	1	2	3	2.190011	O15085	ARHGB_HUMAN		15	1916	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	1	1	hg19	c.1174C>T	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456397	0.43634	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.82803	-1.65;-1.65	4.69	3.78	0.43462	4.69	3.78	0.43462	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000108	T	0.80649	0.4663	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.984	T	0.80393	-0.1401	10	0.38643	T	0.18	-19.5508	11.0799	0.48053	0.0875:0.0:0.9125:0.0	.	392;432	O15085;O15085-2	ARHGB_HUMAN;.	W	432;392	ENSP00000357177:R432W;ENSP00000354644:R392W	ENSP00000354644:R392W	R	-	1	2	2	ARHGEF11	155195547	155195547	1.000000	0.71417	0.810000	0.32431	0.027000	0.11550	7.354000	0.79424	1.204000	0.43247	0.491000	0.48974	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_198236			38	35		135	129	1		1	1		0	0	30	0		1	9.999820e-01	0	15	0	49	0	38	135
ARHGEF11	9826	broad.mit.edu	37	1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000361409.2	-	12	1697	c.955T>G	c.(955-957)Tct>Gct	p.S319A	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S359A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	319	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537																																						ENST00000361409.2	1.000000	0.530000	1	7.100000e-01	0.940000	0.884499	0.940000	1.000000																										0				81						c.(955-957)Tct>Gct		Rho guanine nucleotide exchange factor (GEF) 11							57.0	58.0	57.0					1																	156933060		2203	4300	6503	SO:0001583	missense	9826	0	0					g.chr1:156933060A>C	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.955T>G	chr1.hg19:g.156933060A>C	ENSP00000354644:p.Ser319Ala	1					ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S359A	p.S319A	NM_014784.3	NP_055599.1	1	2	3	2.190011	O15085	ARHGB_HUMAN		12	1697	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	1	1	hg19	c.955T>G	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616613	0.46736	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.83673	-1.75;-1.75	5.56	3.1	0.35709	5.56	3.1	0.35709	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.290213	0.24604	N	0.037108	T	0.62380	0.2423	L	0.47016	1.485	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63778	-0.6560	10	0.54805	T	0.06	-7.3991	6.1864	0.20500	0.4942:0.2718:0.0:0.234	.	319;359	O15085;O15085-2	ARHGB_HUMAN;.	A	359;319	ENSP00000357177:S359A;ENSP00000354644:S319A	ENSP00000354644:S319A	S	-	1	0	0	ARHGEF11	155199684	155199684	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.504000	0.35726	0.938000	0.37419	0.533000	0.62120	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-17.671170	1	0.170000	NM_198236			13	13		166	164	1		1	1		0	0	41	0		9.995651e-01	9.002775e-01	0	5	0	49	0	13	166
ETV3L	440695	broad.mit.edu	37	1	157069139	157069139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	30					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647																																						ENST00000454449.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(88-90)gcC>gcT		ets variant 3-like							48.0	49.0	48.0					1																	157069139		2203	4300	6503	SO:0001819	synonymous_variant	440695	1	121412	30				g.chr1:157069139G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.90C>T	chr1.hg19:g.157069139G>A		1						p.A30A	NM_001004341.2	NP_001004341.1	1	2	3	2.190011	Q6ZN32	ETV3L_HUMAN		2	374	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)		Silent	SNP	ENST00000454449.2	1	1	hg19	c.90C>T	CCDS30893.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-13.762600	1	0.170000	NM_001004341			112	111		198	195	1		1			0	0	64	0		1	0	0	0	0	0	0	112	198
FCRL5	83416	broad.mit.edu	37	1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	800	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				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)				CGCTCCTCCAGAGGGGGACGA	0.577																																						ENST00000361835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2398-2400)tCt>tTt		Fc receptor-like 5							76.0	82.0	80.0					1																	157490923		2203	4300	6503	SO:0001583	missense	83416	0	0					g.chr1:157490923G>A	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.2399C>T	chr1.hg19:g.157490923G>A	ENSP00000354691:p.Ser800Phe	1					FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	1	2	3	2.190011	Q96RD9	FCRL5_HUMAN		11	2556	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	1	1	hg19	c.2399C>T	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747371	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.15017	2.46;2.46	5.34	-0.515	0.11954	5.34	-0.515	0.11954	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	20.103400	0.00639	U	0.000514	T	0.09949	0.0244	L	0.53249	1.67	0.54753	D	0.999981	P;P	0.51351	0.858;0.944	B;P	0.51550	0.326;0.673	T	0.56329	-0.7997	10	0.17369	T	0.5	.	2.7429	0.05258	0.3224:0.0:0.3374:0.3402	.	800;800	A6NJE8;Q96RD9	.;FCRL5_HUMAN	F	800	ENSP00000354691:S800F;ENSP00000349434:S800F	ENSP00000349434:S800F	S	-	2	0	0	FCRL5	155757547	155757547	0.001000	0.12720	0.861000	0.33841	0.509000	0.34042	0.176000	0.16782	0.030000	0.15379	0.650000	0.86243	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-2.882253	1	0.170000	NM_031281			98	97		514	506	1		1	0		0	0	131	0		1	5.479798e-01	0	0	0	11	0	98	514
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368190.3_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Ig-like C2-type 7.				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)				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)				CTGCCTCACAGGAGTAGATTC	0.542																																						ENST00000361835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2176-2178)tcC>tcA		Fc receptor-like 5							63.0	68.0	66.0					1																	157494130		2203	4300	6503	SO:0001819	synonymous_variant	83416	0	0					g.chr1:157494130G>T	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.2178C>A	chr1.hg19:g.157494130G>T		1					FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000368190.3_Silent_p.S726S	p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	1	2	3	2.190011	Q96RD9	FCRL5_HUMAN		10	2335	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	1	1	hg19	c.2178C>A	CCDS1165.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-8.922901	1	0.170000	NM_031281			138	138		342	337	1		1	0		0	0	99	0		1	9.999996e-01	0	0	0	56	0	138	342
FCRL5	83416	broad.mit.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.				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.P590L(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)				AGAGCCTCTCGGGGCCTCACA	0.592																																						ENST00000361835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P590L(1)	kidney(1)	85						c.(1768-1770)cCg>cTg		Fc receptor-like 5							50.0	54.0	52.0					1																	157497598		2203	4300	6503	SO:0001583	missense	83416	4	121412	35				g.chr1:157497598G>A	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.1769C>T	chr1.hg19:g.157497598G>A	ENSP00000354691:p.Pro590Leu	1					FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	1	2	3	2.190011	Q96RD9	FCRL5_HUMAN		9	1926	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	1	1	hg19	c.1769C>T	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	0	FCRL5	155764222	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1		2	2	2	0		0	0	103		103	99	1	2.060000	-2.889641	1	0.170000	NM_031281			96	95		401	395	1		1	0		0	0	103	0		1	9.949883e-01	0	0	0	36	0	96	401
FCRL5	83416	broad.mit.edu	37	1	157504525	157504525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000368190.3_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	520	Ig-like C2-type 5.				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)				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)				TTCCCACAGAGGGTGTTGAGC	0.512																																						ENST00000361835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1558-1560)ccC>ccA		Fc receptor-like 5							61.0	60.0	60.0					1																	157504525		2203	4300	6503	SO:0001819	synonymous_variant	83416	0	0					g.chr1:157504525G>T	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.1560C>A	chr1.hg19:g.157504525G>T		1					FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368190.3_Silent_p.P520P	p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	1	2	3	2.190011	Q96RD9	FCRL5_HUMAN		8	1717	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	1	1	hg19	c.1560C>A	CCDS1165.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_031281			39	38		194	192	1		1	0		0	0	48	0		1	9.493060e-01	0	0	0	27	0	39	194
EFHD2	79180	broad.mit.edu	37	1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	196						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642																																						ENST00000375980.4	0.920000	0.250000	8.400000e-01	4.300000e-01	0.650000	0.640172	0.650000	0.720000																										0				2						c.(586-588)gCc>gTc		EF-hand domain family, member D2							27.0	27.0	27.0					1																	15753776		2203	4299	6502	SO:0001583	missense	79180	0	0					g.chr1:15753776C>T	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.587C>T	chr1.hg19:g.15753776C>T	ENSP00000365147:p.Ala196Val	1						p.A196V	NM_024329.5	NP_077305.2	0	0	0	1.821110	Q96C19	EFHD2_HUMAN		3	664	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	0	1	hg19	c.587C>T	CCDS155.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120565	0.77323	.	.	ENSG00000142634	ENST00000375980;ENST00000375975	T	0.47528	0.84	4.07	4.07	0.47477	4.07	4.07	0.47477	.	0.059184	0.64402	D	0.000003	T	0.72244	0.3436	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79269	-0.1873	10	0.87932	D	0	-25.3155	15.7247	0.77747	0.0:1.0:0.0:0.0	.	196	Q96C19	EFHD2_HUMAN	V	196;97	ENSP00000365147:A196V	ENSP00000365142:A97V	A	+	2	0	0	EFHD2	15626363	15626363	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	7.780000	0.85658	2.209000	0.71365	0.561000	0.74099	GCC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-8.799519	1	0.170000	NM_024329			4	4		48	47	1		1	1		0	0	11	0		8.884187e-01	9.999568e-01	0	110	0	375	0	4	48
FCRL5	83416	broad.mit.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.				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)				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)				GAAGCGGAACCGGAGCGGGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0					ENST00000361835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(673-675)cGg>cAg		Fc receptor-like 5		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106.0	112.0	110.0		674,674	-3.4	0.0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense	83416	7	121412	43				g.chr1:157514222C>T	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.674G>A	chr1.hg19:g.157514222C>T	ENSP00000354691:p.Arg225Gln	1					FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	1	2	3	2.190011	Q96RD9	FCRL5_HUMAN		5	831	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	1	1	hg19	c.674G>A	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	0	FCRL5	155780846	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-2.750000	1	0.170000	NM_031281			146	141		716	699	1		1	0		0	0	159	0		1	9.955829e-01	0	0	0	42	0	146	716
EFHD2	79180	broad.mit.edu	37	1	15755181	15755181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	228						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652																																						ENST00000375980.4	0.940000	0.440000	9.000000e-01	6.200000e-01	0.790000	0.769978	0.790000	0.930000																										0				2						c.(682-684)cgG>cgA		EF-hand domain family, member D2							81.0	74.0	77.0					1																	15755181		2201	4299	6500	SO:0001819	synonymous_variant	79180	0	0					g.chr1:15755181G>A	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.684G>A	chr1.hg19:g.15755181G>A		1						p.R228R	NM_024329.5	NP_077305.2	0	0	0	1.821110	Q96C19	EFHD2_HUMAN		4	761	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	Q5JYW9	Silent	SNP	ENST00000375980.4	0	1	hg19	c.684G>A	CCDS155.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745074|2.745074	0.49151|0.49151	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375975|ENST00000445566	.|.	.|.	.|.	4.37|4.37	1.22|1.22	0.21188|0.21188	4.37|4.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54029|0.54029	0.1833|0.1833	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44421|0.44421	-0.9329|-0.9329	5|4	0.87932|.	D|.	0|.	-9.0778|-9.0778	6.9481|6.9481	0.24530|0.24530	0.1814:0.4067:0.4119:0.0|0.1814:0.4067:0.4119:0.0	.|.	.|.	.|.	.|.	K|E	167|168	.|.	ENSP00000365142:E167K|.	E|G	+|+	1|2	0|0	0|0	EFHD2|EFHD2	15627768|15627768	15627768|15627768	0.103000|0.103000	0.21917|0.21917	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	-0.305000|-0.305000	0.08188|0.08188	0.357000|0.357000	0.24183|0.24183	0.462000|0.462000	0.41574|0.41574	GAA|GGA	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-13.892740	1	0.170000	NM_024329			7	6		48	45	0		1	1		0	0	15	0		9.776817e-01	9.999999e-01	0	81	0	372	0	7	48
FCRL4	83417	broad.mit.edu	37	1	157551412	157551412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582																																						ENST00000271532.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1156-1158)ggC>ggT		Fc receptor-like 4							42.0	42.0	42.0					1																	157551412		2203	4300	6503	SO:0001819	synonymous_variant	83417	0	0					g.chr1:157551412G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1158C>T	chr1.hg19:g.157551412G>A		1					FCRL4_ENST00000448509.2_5'UTR	p.G386G	NM_031282.2	NP_112572.1	1	2	3	2.190011	Q96PJ5	FCRL4_HUMAN		7	1293	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	1	1	hg19	c.1158C>T	CCDS1166.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_031282			60	57		147	145	0		1			0	0	36	0		1	0	0	0	0	0	0	60	147
FCRL3	115352	broad.mit.edu	37	1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	482	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)					GCCCCGGGAGCCCTGAGGGTG	0.537																																						ENST00000368184.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1444-1446)Gct>Act		Fc receptor-like 3							39.0	43.0	42.0					1																	157660291		2203	4300	6503	SO:0001583	missense	115352	1	121406	32				g.chr1:157660291C>T	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.1444G>A	chr1.hg19:g.157660291C>T	ENSP00000357167:p.Ala482Thr	1					FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.A482T	NM_052939.3	NP_443171.2	1	2	3	2.190011	Q96P31	FCRL3_HUMAN		9	1735	-	all_hematologic(112;0.0378)		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	1	1	hg19	c.1444G>A	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	.	4.823	0.153079	0.09185	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03301	3.98;3.98	4.21	-1.39	0.08997	4.21	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.517600	0.04711	N	0.417545	T	0.01558	0.0050	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30526	0.283;0.225;0.24	B;B;B	0.40329	0.326;0.18;0.219	T	0.48293	-0.9048	10	0.35671	T	0.21	.	2.5846	0.04827	0.1317:0.5025:0.1644:0.2014	.	482;387;482	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	482	ENSP00000357169:A482T;ENSP00000357167:A482T	ENSP00000292392:A482T	A	-	1	0	0	FCRL3	155926915	155926915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	-0.174000	0.10743	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	0	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_052939			115	114		362	356	1		1	0		0	0	94	0		1	2.482112e-01	0	0	0	4	0	115	362
FCRL3	115352	broad.mit.edu	37	1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	234	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)					CAATCCGAGGGTCTGGCTATC	0.582																																						ENST00000368184.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(700-702)aCc>aTc		Fc receptor-like 3							92.0	92.0	92.0					1																	157667073		2203	4300	6503	SO:0001583	missense	115352	1	121410	28				g.chr1:157667073G>A	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.701C>T	chr1.hg19:g.157667073G>A	ENSP00000357167:p.Thr234Ile	1					FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.T234I	NM_052939.3	NP_443171.2	1	2	3	2.190011	Q96P31	FCRL3_HUMAN		6	992	-	all_hematologic(112;0.0378)		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	1	1	hg19	c.701C>T	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248244	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12255	2.7;2.7	5.54	-1.18	0.09617	5.54	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.119430	0.00597	N	0.000368	T	0.02342	0.0072	L	0.38733	1.17	0.09310	N	1	B;B	0.28713	0.057;0.22	B;B	0.29663	0.105;0.092	T	0.28618	-1.0038	10	0.10111	T	0.7	.	1.2899	0.02058	0.3018:0.2438:0.3299:0.1245	.	234;234	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	234	ENSP00000357169:T234I;ENSP00000357167:T234I	ENSP00000292392:T234I	T	-	2	0	0	FCRL3	155933697	155933697	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.179000	0.03090	-0.205000	0.10219	0.491000	0.48974	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_052939			120	117		396	388	1		1	0		0	0	102	0		1	2.348254e-01	0	0	0	4	0	120	396
FCRL1	115350	broad.mit.edu	37	1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTTTGAGGCCGTAGCAAAA	0.443																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(985-987)gGc>gAc		Fc receptor-like 1							72.0	73.0	73.0					1																	157771268		2203	4300	6503	SO:0001583	missense	115350	0	0					g.chr1:157771268C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.986G>A	chr1.hg19:g.157771268C>T	ENSP00000357158:p.Gly329Asp	1					FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	p.G329D	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	1	2	3	2.190011	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)	6	1053	-	all_hematologic(112;0.0378)		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	1	1	hg19	c.986G>A	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868592	0.32977	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.38077	1.16;1.19	5.35	4.43	0.53597	5.35	4.43	0.53597	.	1.011940	0.07905	N	0.973270	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	0.99999	D;P	0.55172	0.97;0.627	P;B	0.50825	0.651;0.184	T	0.02417	-1.1162	10	0.32370	T	0.25	.	9.2445	0.37518	0.0:0.9058:0.0:0.0942	.	329;329	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	D	329	ENSP00000357158:G329D;ENSP00000418130:G329D	ENSP00000357158:G329D	G	-	2	0	0	FCRL1	156037892	156037892	0.574000	0.26684	0.864000	0.33941	0.132000	0.20833	1.796000	0.38794	2.941000	0.99782	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_052938			75	73		381	375	1		1			0	0	66	0		1	0	0	0	0	0	0	75	381
CDK11B	984	broad.mit.edu	37	1	1580536	1580536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1580536G>A	ENST00000407249.3	-	7	590	c.591C>T	c.(589-591)cgC>cgT	p.R197R	CDK11B_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000317673.7_Silent_p.R195R|CDK11B_ENST00000341832.6_Silent_p.R150R			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	165	Glu-rich.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|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)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCGCCGCTCGCGCTCCTTCT	0.706																																						ENST00000407249.3	1.000000	0.540000	9.600000e-01	7.000000e-01	0.850000	0.840263	0.850000	0.990000																										0				12						c.(589-591)cgC>cgT		cyclin-dependent kinase 11B							11.0	12.0	12.0					1																	1580536		1751	3993	5744	SO:0001819	synonymous_variant	984	0	0					g.chr1:1580536G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.591C>T	chr1.hg19:g.1580536G>A		1					CDK11B_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000317673.7_Silent_p.R195R|CDK11B_ENST00000341832.6_Silent_p.R150R	p.R197R			0	1	1	1.838767	P21127	CD11B_HUMAN		7	590	-			O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Silent	SNP	ENST00000407249.3	0	1	hg19	c.591C>T		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	20		20	32	1	2.060000	-19.347020	1	0.170000	NM_001787			12	8		98	45	0		1	0		0	0	20	0		9.726966e-01	0	0	0	0	1	0	12	98
CD5L	922	broad.mit.edu	37	1	157804531	157804531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	128					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)			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)			AGAAAGAGCTCTCTGGGTCTG	0.562																																						ENST00000368174.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(382-384)gaG>gaA		CD5 molecule-like							56.0	59.0	58.0					1																	157804531		2203	4300	6503	SO:0001819	synonymous_variant	922	0	0					g.chr1:157804531C>T	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.384G>A	chr1.hg19:g.157804531C>T		1					CD5L_ENST00000484609.1_5'Flank	p.E128E	NM_005894.2	NP_005885.1	1	2	3	2.190011	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)	4	480	-	all_hematologic(112;0.0378)		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	1	1	hg19	c.384G>A	CCDS1171.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005894			108	107		304	293	0		1			0	0	51	0		1	0	0	0	0	0	0	108	304
KIRREL	55243	broad.mit.edu	37	1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000359209.6	+	15	2280	c.2213A>G	c.(2212-2214)tAc>tGc	p.Y738C	KIRREL_ENST00000368172.1_Missense_Mutation_p.Y552C|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	738					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652																																						ENST00000359209.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2212-2214)tAc>tGc		kin of IRRE like (Drosophila)							46.0	41.0	43.0					1																	158064849		2203	4300	6503	SO:0001583	missense	55243	0	0					g.chr1:158064849A>G	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2213A>G	chr1.hg19:g.158064849A>G	ENSP00000352138:p.Tyr738Cys	1					KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000368172.1_Missense_Mutation_p.Y552C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C	p.Y738C			1	2	3	2.190011	Q96J84	KIRR1_HUMAN		15	2280	+	all_hematologic(112;0.0378)		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	1	1	hg19	c.2213A>G	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111895	0.77210	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;D;D;D;D;T	0.86497	-1.15;-2.13;-1.55;-1.74;-1.68;-1.37	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.39274	N	0.001417	D	0.85890	0.5802	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	D	0.87188	0.2232	10	0.45353	T	0.12	-20.5602	12.6627	0.56824	1.0:0.0:0.0:0.0	.	638;574;552;738	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	574;754;635;738;638;552	ENSP00000353202:Y574C;ENSP00000357155:Y754C;ENSP00000376098:Y635C;ENSP00000352138:Y738C;ENSP00000389674:Y638C;ENSP00000357154:Y552C	ENSP00000352138:Y738C	Y	+	2	0	0	KIRREL	156331473	156331473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	1.881000	0.54492	0.459000	0.35465	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_018240			41	41		124	122	1		1	0		0	0	30	0		1	9.999999e-01	0	0	0	82	0	41	124
CD1D	912	broad.mit.edu	37	1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	284	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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGAAGCACAGCAGTCTAGAG	0.607																																						ENST00000368171.3	0.610000	0.210000	5.000000e-01	2.900000e-01	0.380000	0.402229	0.380000	0.370000																										0				30						c.(850-852)aGc>aAc		CD1d molecule							89.0	80.0	83.0					1																	158152911		2203	4300	6503	SO:0001583	missense	912	1	121410	28				g.chr1:158152911G>A	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.851G>A	chr1.hg19:g.158152911G>A	ENSP00000357153:p.Ser284Asn	1						p.S284N	NM_001766.3	NP_001757.1	1	2	3	2.190011	P15813	CD1D_HUMAN		5	1350	+	all_hematologic(112;0.0378)		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	1	1	hg19	c.851G>A	CCDS1173.1	0	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915095	0.73098	.	.	ENSG00000158473	ENST00000368171	T	0.03124	4.04	5.3	3.42	0.39159	5.3	3.42	0.39159	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.64402	D	0.000012	T	0.12178	0.0296	M	0.94021	3.485	0.30875	N	0.732041	D	0.71674	0.998	D	0.78314	0.991	T	0.06607	-1.0817	10	0.87932	D	0	-21.1727	8.3195	0.32121	0.185:0.0:0.815:0.0	.	284	P15813	CD1D_HUMAN	N	284	ENSP00000357153:S284N	ENSP00000357153:S284N	S	+	2	0	0	CD1D	156419535	156419535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.371000	0.59523	0.722000	0.32252	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-12.201500	1	0.170000	NM_001766			13	13		426	416	0		1	0		0	0	70	0		9.994734e-01	1.785990e-01	0	0	0	24	0	13	426
CD1A	909	broad.mit.edu	37	1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	71				WS -> V (in Ref. 7; AAA51933). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				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)	GTGCCCCTGGTCCAGGGGAAA	0.488																																						ENST00000289429.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(211-213)Tcc>Ccc		CD1a molecule	Antithymocyte globulin(DB00098)						107.0	101.0	103.0					1																	158225026		2203	4300	6503	SO:0001583	missense	909	2	121412	39				g.chr1:158225026T>C	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.211T>C	chr1.hg19:g.158225026T>C	ENSP00000289429:p.Ser71Pro	1						p.S71P	NM_001763.2	NP_001754.2	1	2	3	2.190011	P06126	CD1A_HUMAN		2	744	+	all_hematologic(112;0.0378)		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	1	1	hg19	c.211T>C	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327550	0.41197	.	.	ENSG00000158477	ENST00000289429	T	0.00724	5.78	4.54	3.38	0.38709	4.54	3.38	0.38709	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.218281	0.23492	N	0.047600	T	0.01940	0.0061	M	0.87097	2.86	0.26685	N	0.971464	D	0.89917	1.0	D	0.83275	0.996	T	0.29971	-0.9994	10	0.87932	D	0	-18.9009	7.5545	0.27817	0.0:0.0:0.2395:0.7605	.	71	P06126	CD1A_HUMAN	P	71	ENSP00000289429:S71P	ENSP00000289429:S71P	S	+	1	0	0	CD1A	156491650	156491650	0.922000	0.31269	0.984000	0.44739	0.074000	0.17049	0.422000	0.21296	1.911000	0.55334	0.477000	0.44152	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_001763			89	88		281	279	1		1	0		0	0	79	0		1	5.902447e-02	0	0	0	2	0	89	281
CD1A	909	broad.mit.edu	37	1	158226772	158226772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158226772G>T	ENST00000289429.5	+	4	1334	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	267	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				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)	CAACCCTGGAGGTGGCCGCTG	0.622																																						ENST00000289429.5	0.550000	0.200000	4.500000e-01	2.700000e-01	0.350000	0.370128	0.350000	0.360000																										0				32						c.(799-801)gaG>gaT		CD1a molecule	Antithymocyte globulin(DB00098)						88.0	82.0	84.0					1																	158226772		2203	4300	6503	SO:0001583	missense	909	1	121412	31				g.chr1:158226772G>T	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.801G>T	chr1.hg19:g.158226772G>T	ENSP00000289429:p.Glu267Asp	1						p.E267D	NM_001763.2	NP_001754.2	1	2	3	2.190011	P06126	CD1A_HUMAN		4	1334	+	all_hematologic(112;0.0378)		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	1	1	hg19	c.801G>T	CCDS1174.1	0	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292564	0.00245	.	.	ENSG00000158477	ENST00000289429	T	0.03242	4.0	3.84	-3.71	0.04424	3.84	-3.71	0.04424	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.522691	0.16162	N	0.226714	T	0.00271	0.0008	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.02654	T	1	-11.0955	2.3388	0.04254	0.1334:0.0943:0.2953:0.4769	.	267	P06126	CD1A_HUMAN	D	267	ENSP00000289429:E267D	ENSP00000289429:E267D	E	+	3	2	2	CD1A	156493396	156493396	0.116000	0.22171	0.099000	0.21106	0.162000	0.22319	-0.156000	0.10100	-0.858000	0.04110	-1.495000	0.00966	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.380809	1	0.170000	NM_001763			16	15		565	546	0		1	0		0	0	73	0		9.999124e-01	2.781029e-02	0	0	0	9	0	16	565
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					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)			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)					GGATTAACTCGGGAGATTCAA	0.363																																						ENST00000368170.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(289-291)cGg>cAg		CD1c molecule		G	GLN/ARG	11,4395		0,11,2192	97.0	95.0	96.0		290	-2.2	0.0	1	dbSNP_132	96	2,8598		0,2,4298	yes	missense	CD1C	NM_001765.2	43	0,13,6490	AA,AG,GG		0.0233,0.2497,0.1	benign	97/334	158261152	13,12993	2203	4300	6503	SO:0001583	missense	911	25	121412	46				g.chr1:158261152G>A	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.290G>A	chr1.hg19:g.158261152G>A	ENSP00000357152:p.Arg97Gln	1						p.R97Q	NM_001765.2	NP_001756.2	1	2	3	2.190011	P29017	CD1C_HUMAN		2	569	+	all_hematologic(112;0.0378)		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	1	1	hg19	c.290G>A	CCDS1175.1	1	.	.	.	.	.	.	.	.	.	.	-	5.842	0.339525	0.11069	0.002497	2.33E-4	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.16897	2.31	3.52	-2.19	0.07015	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.02455	0.0075	N	0.20986	0.625	0.09310	N	1	B	0.23990	0.095	B	0.12156	0.007	T	0.42732	-0.9434	10	0.21014	T	0.42	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	Q	97	ENSP00000357152:R97Q	ENSP00000357151:R97Q	R	+	2	0	0	CD1C	156527776	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.317758	1	0.170000	NM_001765			124	124		347	345	1		1	0		0	0	88	0		1	3.971407e-01	0	0	0	5	0	124	347
CD1B	910	broad.mit.edu	37	1	158299257	158299257	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	263	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597																																						ENST00000368168.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(787-789)ctC>ctT		CD1b molecule							125.0	113.0	117.0					1																	158299257		2203	4300	6503	SO:0001819	synonymous_variant	910	0	0					g.chr1:158299257G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.789C>T	chr1.hg19:g.158299257G>A		1						p.L263L	NM_001764.2	NP_001755.1	1	2	3	2.190011	P29016	CD1B_HUMAN		4	896	-	all_hematologic(112;0.0378)		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	1	1	hg19	c.789C>T	CCDS1176.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-3.149533	1	0.170000	NM_001764			118	114		586	576	1		1	0		0	0	119	0		1	0	0	0	0	1	0	118	586
CD1B	910	broad.mit.edu	37	1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	134					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493																																						ENST00000368168.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(400-402)Gga>Tga		CD1b molecule							172.0	175.0	174.0					1																	158299849		2203	4300	6503	SO:0001587	stop_gained	910	0	0					g.chr1:158299849C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.400G>T	chr1.hg19:g.158299849C>A	ENSP00000357150:p.Gly134*	1						p.G134*	NM_001764.2	NP_001755.1	1	2	3	2.190011	P29016	CD1B_HUMAN		3	507	-	all_hematologic(112;0.0378)		Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	0	1	hg19	c.400G>T	CCDS1176.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696383|3.696383	0.68386|0.68386	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|.	.|.	.|.	4.16|4.16	3.25|3.25	0.37280|0.37280	4.16|4.16	3.25|3.25	0.37280|0.37280	.|.	0.499782|0.499782	0.17023|0.17023	N|N	0.190023|0.190023	T|.	0.24812|.	0.0602|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07986|.	-1.0744|.	4|.	.|0.26408	.|T	.|0.33	0.004|0.004	7.9556|7.9556	0.30040|0.30040	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	.|.	.|.	.|.	V|X	101|134	.|.	.|ENSP00000357150:G134X	G|G	-|-	2|1	0|0	0|0	CD1B|CD1B	156566473|156566473	156566473|156566473	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.064000|0.064000	0.16182|0.16182	0.981000|0.981000	0.29526|0.29526	1.095000|1.095000	0.41419|0.41419	-0.136000|-0.136000	0.14681|0.14681	GGG|GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1		2	2	2	0		0	0	259		259	257	1	2.060000	-9.836333	1	0.170000	NM_001764			305	300		860	844	1		1			0	0	259	0		1	0	0	0	0	0	0	305	860
CASP9	842	broad.mit.edu	37	1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000333868.5	-	5	734	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000546424.1_Missense_Mutation_p.L214M|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	214					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|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 apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCAAAGCCAGCACCATTTTC	0.577																																						ENST00000333868.5	0.510000	0.150000	4.000000e-01	2.100000e-01	0.300000	0.316769	0.300000	0.290000																										0				18						c.(640-642)Ctg>Atg		caspase 9, apoptosis-related cysteine peptidase							63.0	62.0	62.0					1																	15832565		2203	4300	6503	SO:0001583	missense	842	0	0					g.chr1:15832565G>T	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.640C>A	chr1.hg19:g.15832565G>T	ENSP00000330237:p.Leu214Met	1					CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000546424.1_Missense_Mutation_p.L214M	p.L214M	NM_001229.3	NP_001220.2	0	0	0	1.821110	P55211	CASP9_HUMAN		5	734	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	1	1	hg19	c.640C>A	CCDS158.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.244376|2.244376	0.39697|0.39697	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	5.1|5.1	1.91|1.91	0.25777|0.25777	5.1|5.1	1.91|1.91	0.25777|0.25777	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|2.094920	.|0.01550	.|N	.|0.019639	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44478	.|0.774;0.836	.|P;P	.|0.52217	.|0.637;0.693	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.48119	.|T	.|0.1	.|.	6.7094|6.7094	0.23268|0.23268	0.0:0.1671:0.4634:0.3695|0.0:0.1671:0.4634:0.3695	.|.	.|214;214	.|P55211;F8VVS7	.|CASP9_HUMAN;.	D|M	55|214;214;58;131;131	.|ENSP00000449584:L214M;ENSP00000330237:L214M;ENSP00000365051:L131M;ENSP00000396540:L131M	.|ENSP00000330237:L214M	A|L	-|-	2|1	0|2	0|2	CASP9|CASP9	15705152|15705152	15705152|15705152	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	-0.298000|-0.298000	0.08265|0.08265	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GCT|CTG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-9.929688	1	0.170000	NM_032996			10	10		349	345	0		1	1		0	0	68	0		9.968043e-01	4.606179e-01	0	4	0	48	0	10	349
CD1B	910	broad.mit.edu	37	1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	17					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478																																						ENST00000368168.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(49-51)aAc>aGc		CD1b molecule							85.0	76.0	79.0					1																	158301164		2203	4300	6503	SO:0001583	missense	910	0	0					g.chr1:158301164T>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.50A>G	chr1.hg19:g.158301164T>C	ENSP00000357150:p.Asn17Ser	1						p.N17S	NM_001764.2	NP_001755.1	1	2	3	2.190011	P29016	CD1B_HUMAN		1	157	-	all_hematologic(112;0.0378)		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	1	1	hg19	c.50A>G	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	T	5.734	0.319814	0.10845	.	.	ENSG00000158485	ENST00000368168	T	0.01252	5.1	3.14	1.98	0.26296	3.14	1.98	0.26296	.	0.801389	0.10160	N	0.708393	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.24541	0.054;0.004	T	0.35525	-0.9785	10	0.24483	T	0.36	-7.4059	4.6335	0.12513	0.0:0.1632:0.0:0.8368	.	17;17	B4E0D2;P29016	.;CD1B_HUMAN	S	17	ENSP00000357150:N17S	ENSP00000357150:N17S	N	-	2	0	0	CD1B	156567788	156567788	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.552000	0.23376	0.569000	0.29329	0.528000	0.53228	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_001764			61	60		144	143	1		1	0		0	0	40	0		1	9.071906e-02	0	0	0	2	0	61	144
CD1E	913	broad.mit.edu	37	1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000368167.3	+	4	1041	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368154.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	268	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602																																						ENST00000368167.3	1.000000	0.580000	9.300000e-01	6.800000e-01	0.800000	0.811098	0.800000	1.000000																										0				49						c.(802-804)Tat>Cat		CD1e molecule							108.0	107.0	107.0					1																	158325793		2203	4300	6503	SO:0001583	missense	913	0	0					g.chr1:158325793T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.802T>C	chr1.hg19:g.158325793T>C	ENSP00000357149:p.Tyr268His	1					CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H	p.Y268H	NM_030893.3	NP_112155.2	1	2	3	2.190011	P15812	CD1E_HUMAN		4	1041	+	all_hematologic(112;0.0378)		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	0	1	hg19	c.802T>C	CCDS41417.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235311|2.235311	0.39498|0.39498	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368164;ENST00000368161;ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	.|T;T;T;T;T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53;4.18;2.53;2.53;4.18	4.38|4.38	3.23|3.23	0.37069|0.37069	4.38|4.38	3.23|3.23	0.37069|0.37069	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.371926	.|0.19941	.|N	.|0.102654	.|T	.|0.15609	.|0.0376	M|M	0.72894|0.72894	2.215|2.215	0.25800|0.25800	N|N	0.984516|0.984516	.|D;P;D;P;P;P;P;D;P;D;P	.|0.58268	.|0.958;0.953;0.982;0.951;0.659;0.549;0.896;0.981;0.953;0.97;0.871	.|P;P;P;P;D;P;P;P;D;D;P	.|0.65987	.|0.895;0.872;0.863;0.863;0.94;0.868;0.774;0.864;0.926;0.931;0.826	.|T	.|0.06445	.|-1.0826	.|10	.|0.31617	.|T	.|0.26	.|-3.3614	7.8875|7.8875	0.29659|0.29659	0.0:0.0:0.21:0.79|0.0:0.0:0.21:0.79	.|.	.|79;169;266;268;169;178;79;268;268;79;178	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	.|H	-1|266;169;268;79;178;79;268;178	.|ENSP00000401957:Y266H;ENSP00000402906:Y169H;ENSP00000357149:Y268H;ENSP00000416228:Y79H;ENSP00000357147:Y178H;ENSP00000357148:Y79H;ENSP00000357142:Y268H;ENSP00000357138:Y178H	.|ENSP00000357138:Y178H	.|Y	+|+	.|1	.|0	.|0	CD1E|CD1E	156592417|156592417	156592417|156592417	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.697000|0.697000	0.40408|0.40408	2.127000|2.127000	0.42035|0.42035	0.706000|0.706000	0.31912|0.31912	0.460000|0.460000	0.39030|0.39030	.|TAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	1	0	1		2	2	2	0		0	0	107		107	103	1	2.060000	-20.000000	1	0.170000	NM_030893			41	40		611	594	0		1	0		0	0	107	0		1	0	0	0	0	1	0	41	611
OR10T2	128360	broad.mit.edu	37	1	158368954	158368954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AAAAGAACAGCTGGGTGGCAC	0.502																																						ENST00000334438.1	1.000000	0.660000	1	8.100000e-01	0.990000	0.929925	0.990000	1.000000																										0				34						c.(301-303)caG>caA		olfactory receptor, family 10, subfamily T, member 2							104.0	106.0	105.0					1																	158368954		2203	4300	6503	SO:0001819	synonymous_variant	128360	0	0					g.chr1:158368954C>T	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.303G>A	chr1.hg19:g.158368954C>T		1						p.Q101Q	NM_001004475.1	NP_001004475.1	1	2	3	2.190011	Q8NGX3	O10T2_HUMAN		1	302	-	all_hematologic(112;0.0378)		Q6IF98	Silent	SNP	ENST00000334438.1	1	1	hg19	c.303G>A	CCDS30895.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_001004475			25	25		298	292	0		1			0	0	75	0		9.999998e-01	0	0	0	0	0	0	25	298
OR10R2	343406	broad.mit.edu	37	1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	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	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					TTCCTTGGTTTTGCCATTACC	0.463																																						ENST00000368152.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(379-381)tTt>tCt		olfactory receptor, family 10, subfamily R, member 2							385.0	326.0	346.0					1																	158450047		2203	4300	6503	SO:0001583	missense	343406	0	0					g.chr1:158450047T>C	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.380T>C	chr1.hg19:g.158450047T>C	ENSP00000357134:p.Phe127Ser	1					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.F127S	NM_001004472.1	NP_001004472.1	1	2	3	2.190011	Q8NGX6	O10R2_HUMAN		1	380	+	all_hematologic(112;0.0378)		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	1	1	hg19	c.380T>C	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.243493	0.58995	.	.	ENSG00000198965	ENST00000368152	T	0.01287	5.05	4.48	4.48	0.54585	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	M	0.65677	2.01	0.24736	N	0.993066	D	0.76494	0.999	D	0.68943	0.961	T	0.27468	-1.0073	9	0.72032	D	0.01	.	12.8873	0.58051	0.0:0.0:0.0:1.0	.	127	Q8NGX6	O10R2_HUMAN	S	127	ENSP00000357134:F127S	ENSP00000357134:F127S	F	+	2	0	0	OR10R2	156716671	156716671	0.003000	0.15002	0.999000	0.59377	0.937000	0.57800	0.917000	0.28665	1.847000	0.53656	0.533000	0.62120	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	1	0	1		2	2	2	0		0	0	240		240	235	1	2.060000	-20.000000	1	0.170000	NM_001004472			385	380		1151	1124	0		1			0	0	240	0		1	0	0	0	0	0	0	385	1151
OR6Y1	391112	broad.mit.edu	37	1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AATCATGGCAGTCATGAGTCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		23831	0.0		0.001	False		,,,				2504	0.0					ENST00000302617.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				30						c.(478-480)aCt>aTt		olfactory receptor, family 6, subfamily Y, member 1		G	ILE/THR	0,4406		0,0,2203	52.0	46.0	48.0		479	3.4	0.6	1	dbSNP_134	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6Y1	NM_001005189.1	89	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/326	158517417	4,13002	2203	4300	6503	SO:0001583	missense	391112	41	121378	46				g.chr1:158517417G>A	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.479C>T	chr1.hg19:g.158517417G>A	ENSP00000304807:p.Thr160Ile	1						p.T160I	NM_001005189.1	NP_001005189.1	1	2	3	2.190011	Q8NGX8	OR6Y1_HUMAN		1	478	-	all_hematologic(112;0.0378)		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	1	1	hg19	c.479C>T	CCDS30899.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.94	1.787184	0.31593	0.0	4.65E-4	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.43	0.39272	5.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.13200	0.0320	N	0.02296	-0.605	0.22684	N	0.998854	D	0.71674	0.998	D	0.66847	0.947	T	0.07309	-1.0779	10	0.26408	T	0.33	.	7.1526	0.25618	0.1503:0.1458:0.7039:0.0	.	160	Q8NGX8	OR6Y1_HUMAN	I	160	ENSP00000304807:T160I	ENSP00000304807:T160I	T	-	2	0	0	OR6Y1	156784041	156784041	0.000000	0.05858	0.554000	0.28268	0.998000	0.95712	-0.056000	0.11787	1.466000	0.48025	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-4.787092	1	0.170000	NM_001005189			31	30		177	173	1		1			0	0	42	0		1	0	0	0	0	0	0	31	177
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, 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)			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)					TACATAGCGGTCAAAGGCCAT	0.468																																						ENST00000302617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(376-378)gAc>gGc		olfactory receptor, family 6, subfamily Y, member 1							117.0	100.0	106.0					1																	158517519		2202	4300	6502	SO:0001583	missense	391112	0	0					g.chr1:158517519T>C	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.377A>G	chr1.hg19:g.158517519T>C	ENSP00000304807:p.Asp126Gly	1						p.D126G	NM_001005189.1	NP_001005189.1	1	2	3	2.190011	Q8NGX8	OR6Y1_HUMAN		1	376	-	all_hematologic(112;0.0378)		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	1	1	hg19	c.377A>G	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813517	0.70912	.	.	ENSG00000197532	ENST00000302617	T	0.18174	2.23	4.91	4.91	0.64330	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000551	T	0.51109	0.1655	H	0.97962	4.115	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.70502	-0.4854	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.0:0.0:1.0	.	126	Q8NGX8	OR6Y1_HUMAN	G	126	ENSP00000304807:D126G	ENSP00000304807:D126G	D	-	2	0	0	OR6Y1	156784143	156784143	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.709000	0.84645	2.176000	0.68965	0.460000	0.39030	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001005189			99	99		297	290	1		1			0	0	76	0		1	0	0	0	0	0	0	99	297
OR6Y1	391112	broad.mit.edu	37	1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, 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)			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)					AAGAAGAAGTACATGGGCTTA	0.463																																						ENST00000302617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(193-195)Tac>Cac		olfactory receptor, family 6, subfamily Y, member 1							79.0	74.0	76.0					1																	158517703		2202	4300	6502	SO:0001583	missense	391112	0	0					g.chr1:158517703A>G	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.193T>C	chr1.hg19:g.158517703A>G	ENSP00000304807:p.Tyr65His	1						p.Y65H	NM_001005189.1	NP_001005189.1	1	2	3	2.190011	Q8NGX8	OR6Y1_HUMAN		1	192	-	all_hematologic(112;0.0378)		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	1	1	hg19	c.193T>C	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165016	0.78339	.	.	ENSG00000197532	ENST00000302617	T	0.15487	2.42	4.91	4.91	0.64330	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001739	T	0.47544	0.1451	H	0.96633	3.855	0.45777	D	0.998663	D	0.89917	1.0	D	0.68943	0.961	T	0.66268	-0.5966	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	65	Q8NGX8	OR6Y1_HUMAN	H	65	ENSP00000304807:Y65H	ENSP00000304807:Y65H	Y	-	1	0	0	OR6Y1	156784327	156784327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.948000	0.93006	2.176000	0.68965	0.460000	0.39030	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_001005189			62	60		211	207	1		1			0	0	56	0		1	0	0	0	0	0	0	62	211
OR10X1	128367	broad.mit.edu	37	1	158548724	158548724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428																																						ENST00000368150.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(964-966)gtT>gtC		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							144.0	149.0	147.0					1																	158548724		2203	4300	6503	SO:0001819	synonymous_variant	128367	0	0					g.chr1:158548724A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.966T>C	chr1.hg19:g.158548724A>G		1						p.V322V	NM_001004477.1	NP_001004477.1	1	2	3	2.190011	Q8NGY0	O10X1_HUMAN		1	965	-	all_hematologic(112;0.0378)		Q6IFR8	Silent	SNP	ENST00000368150.1	1	1	hg19	c.966T>C	CCDS30900.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	1	0	0		2	2	2	0		0	0	167		167	167	1	2.060000	-20.000000	1	0.170000	NM_001004477			196	193		969	952	1		1			0	0	167	0		1	0	0	0	0	0	0	196	969
OR10X1	128367	broad.mit.edu	37	1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAATGACAGTATAAGGGACT	0.433																																						ENST00000368150.1	0.610000	0.290000	5.300000e-01	3.600000e-01	0.440000	0.450735	0.440000	0.430000																										0				37						c.(874-876)Act>Gct		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							107.0	111.0	110.0					1																	158548816		2203	4300	6503	SO:0001583	missense	128367	0	0					g.chr1:158548816T>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.874A>G	chr1.hg19:g.158548816T>C	ENSP00000357132:p.Thr292Ala	1						p.T292A	NM_001004477.1	NP_001004477.1	1	2	3	2.190011	Q8NGY0	O10X1_HUMAN		1	873	-	all_hematologic(112;0.0378)		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	1	1	hg19	c.874A>G	CCDS30900.1	0	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419284	0.62622	.	.	ENSG00000186400	ENST00000368150	T	0.00235	8.48	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000119	T	0.00241	0.0007	M	0.66297	2.02	0.27388	N	0.955216	D	0.76494	0.999	D	0.87578	0.998	T	0.50363	-0.8837	10	0.48119	T	0.1	.	13.2141	0.59849	0.0:0.0:0.0:1.0	.	292	Q8NGY0	O10X1_HUMAN	A	292	ENSP00000357132:T292A	ENSP00000357132:T292A	T	-	1	0	0	OR10X1	156815440	156815440	0.999000	0.42202	0.879000	0.34478	0.978000	0.69477	1.571000	0.36450	2.001000	0.58596	0.460000	0.39030	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	0	0	0		25	2	2	1		1	1	99		99	99	1	2.060000	-19.999910	1	0.170000	NM_001004477			28	27		788	768	0		1			1	0	99	0		6.760526e-01	0	0	0	0	0	0	28	788
OR10Z1	128368	broad.mit.edu	37	1	158576821	158576821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158576821G>T	ENST00000361284.1	+	1	593	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTGAGCTGAGGATCTTTATC	0.512																																						ENST00000361284.1	0.390000	0.130000	3.200000e-01	1.800000e-01	0.240000	0.258644	0.240000	0.240000																										0				37						c.(592-594)aGg>aTg		olfactory receptor, family 10, subfamily Z, member 1							139.0	117.0	124.0					1																	158576821		2203	4300	6503	SO:0001583	missense	128368	0	0					g.chr1:158576821G>T	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.593G>T	chr1.hg19:g.158576821G>T	ENSP00000354707:p.Arg198Met	1						p.R198M	NM_001004478.1	NP_001004478.1	1	2	3	2.190011	Q8NGY1	O10Z1_HUMAN		1	593	+	all_hematologic(112;0.0378)		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	0	1	hg19	c.593G>T	CCDS30901.1	0	.	.	.	.	.	.	.	.	.	.	G	1.832	-0.469578	0.04445	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.26	1.14	0.20703	5.26	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.379178	0.19324	N	0.117043	T	0.02848	0.0085	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.48119	T	0.1	.	1.9586	0.03381	0.1515:0.1226:0.3631:0.3629	.	198	Q8NGY1	O10Z1_HUMAN	M	198	ENSP00000354707:R198M	ENSP00000354707:R198M	R	+	2	0	0	OR10Z1	156843445	156843445	0.000000	0.05858	0.117000	0.21633	0.026000	0.11368	0.108000	0.15396	0.339000	0.23719	-0.119000	0.15052	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	0	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-2.333786	0	0.170000	NM_001004478			14	15		721	707	0		1			0	0	128	0		9.997211e-01	0	0	0	0	0	0	14	721
SPTA1	6708	broad.mit.edu	37	1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1487					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)			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)					ATCAGTTGTGCTTTGAGAGCC	0.488																																						ENST00000368147.4	0.820000	0.250000	6.500000e-01	3.500000e-01	0.490000	0.511604	0.490000	0.480000																										0				307						c.(4459-4461)Gca>Aca		spectrin, alpha, erythrocytic 1							105.0	96.0	99.0					1																	158612750		1991	4176	6167	SO:0001583	missense	6708	0	0					g.chr1:158612750C>T	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.4459G>A	chr1.hg19:g.158612750C>T	ENSP00000357129:p.Ala1487Thr	1						p.A1487T	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		32	4639	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	0	1	hg19	c.4459G>A	CCDS41423.1	0	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117860	0.20877	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.2	1.14	0.20703	5.2	1.14	0.20703	.	2.573990	0.02328	N	0.073630	T	0.17831	0.0428	L	0.41573	1.285	0.22317	N	0.999201	B	0.06786	0.001	B	0.09377	0.004	T	0.06954	-1.0798	10	0.29301	T	0.29	.	6.6757	0.23093	0.0:0.6484:0.1288:0.2228	.	1487	P02549	SPTA1_HUMAN	T	1487	ENSP00000357130:A1487T;ENSP00000357129:A1487T	ENSP00000357129:A1487T	A	-	1	0	0	SPTA1	156879374	156879374	0.961000	0.32948	0.035000	0.18076	0.702000	0.40608	1.766000	0.38491	0.057000	0.16193	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-4.037314	1	0.170000	NM_003126			10	10		259	253	0		1			0	0	40	0		9.966719e-01	0	0	0	0	0	0	10	259
SPTA1	6708	broad.mit.edu	37	1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1284					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)			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)					CTCATTTAGGCTCTCCTTACG	0.547																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				307						c.(3850-3852)aGc>aAc		spectrin, alpha, erythrocytic 1							133.0	134.0	134.0					1																	158617374		1982	4142	6124	SO:0001583	missense	6708	0	0					g.chr1:158617374C>T	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.3851G>A	chr1.hg19:g.158617374C>T	ENSP00000357129:p.Ser1284Asn	1						p.S1284N	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		27	4031	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.3851G>A	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691624	0.15039	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.43	-0.0524	0.13822	4.43	-0.0524	0.13822	.	.	.	.	.	T	0.10594	0.0259	N	0.20766	0.605	0.26862	N	0.967922	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	9	0.17832	T	0.49	.	7.9629	0.30081	0.0:0.3016:0.0:0.6984	.	1284	P02549	SPTA1_HUMAN	N	1284	ENSP00000357130:S1284N;ENSP00000357129:S1284N	ENSP00000357129:S1284N	S	-	2	0	0	SPTA1	156883998	156883998	1.000000	0.71417	0.059000	0.19551	0.247000	0.25773	1.080000	0.30779	-0.089000	0.12484	-0.244000	0.11960	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-20.000000	1	0.170000	NM_003126			80	79		564	552	1		1	0		0	0	124	0		1	0	0	0	0	1	0	80	564
SPTA1	6708	broad.mit.edu	37	1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	947					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)			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)					GAATTGAGATCTAATAGAAAG	0.403																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				307						c.(2839-2841)Gat>Aat		spectrin, alpha, erythrocytic 1							163.0	164.0	164.0					1																	158626413		1840	4085	5925	SO:0001583	missense	6708	0	0					g.chr1:158626413C>T	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.2839G>A	chr1.hg19:g.158626413C>T	ENSP00000357129:p.Asp947Asn	1						p.D947N	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		20	3019	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.2839G>A	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.33110	N	0.005265	T	0.82259	0.4998	M	0.86573	2.825	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82649	-0.0353	10	0.51188	T	0.08	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	947	P02549	SPTA1_HUMAN	N	947	ENSP00000357130:D947N;ENSP00000357129:D947N	ENSP00000357129:D947N	D	-	1	0	0	SPTA1	156893037	156893037	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	6.502000	0.73695	2.861000	0.98227	0.655000	0.94253	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_003126			139	136		510	501	1		1			0	0	160	0		1	0	0	0	0	0	0	139	510
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					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.R891*(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)					TCATTTTGTCGCCTAGCAGCT	0.463																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R891*(1)	endometrium(1)	307						c.(2671-2673)Cga>Tga		spectrin, alpha, erythrocytic 1							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708	1	120922	41				g.chr1:158627401G>A	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.2671C>T	chr1.hg19:g.158627401G>A	ENSP00000357129:p.Arg891*	1						p.R891*	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		19	2851	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	0	1	hg19	c.2671C>T	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	2	SPTA1	156894025	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	163		163	163	1	2.060000	-20.000000	1	0.170000	NM_003126			251	248		636	626	0		1			0	0	163	0		1	0	0	0	0	0	0	251	636
SPTA1	6708	broad.mit.edu	37	1	158631185	158631186	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185_158631186CA>TG	ENST00000368147.4	-	18	2658_2659	c.2478_2479TG>CA	c.(2476-2481)atTGct>atCAct	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	827					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)			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)					TTTTTGGAAGCAATCAGGTCCT	0.426																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				307						c.(2479-2481)Gct>Act|c.(2476-2478)atT>atC		spectrin, alpha, erythrocytic 1																																				SO:0001583	missense	6708	2|0	120824|0	39|				g.chr1:158631185C>T|g.chr1:158631186A>G	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.2478_2479delinsTG	chr1.hg19:g.158631185_158631186delinsTG	ENSP00000357129:p.Ala827Thr	1						p.A827T|p.I826I	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		18	2659|2658	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation|Silent	SNP	ENST00000368147.4	1	1	hg19	c.2479G>A|c.2478T>C	CCDS41423.1	1																									4.93|	-0.371|	0.12525|																																												0|			156897809|														2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.426	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	90		90|91	90|91	1	2.060000	-20.000000	1	0.170000	NM_003126			67|64	67|64		385|384	378|377	1		1			0	0	90|91	0		1	0	0	0	0	0	0	64	384
SPTA1	6708	broad.mit.edu	37	1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	685					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)			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)					TGGTTGGCCTCATGCAACTGG	0.448																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				307						c.(2053-2055)Gag>Tag		spectrin, alpha, erythrocytic 1							41.0	40.0	40.0					1																	158636273		1944	4138	6082	SO:0001587	stop_gained	6708	0	0					g.chr1:158636273C>A	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.2053G>T	chr1.hg19:g.158636273C>A	ENSP00000357129:p.Glu685*	1						p.E685*	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		16	2233	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	0	1	hg19	c.2053G>T	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.869622	0.97049	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.71	2.85	0.33270	4.71	2.85	0.33270	.	0.251914	0.20648	N	0.088271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.753	0.40487	0.0:0.8306:0.0:0.1694	.	.	.	.	X	685	.	ENSP00000357129:E685X	E	-	1	0	0	SPTA1	156902897	156902897	1.000000	0.71417	0.110000	0.21437	0.005000	0.04900	4.944000	0.63561	0.601000	0.29879	-0.142000	0.14014	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.353125	1	0.170000	NM_003126			29	30		156	152	1		1			0	0	28	0		1	0	0	0	0	0	0	29	156
SPTA1	6708	broad.mit.edu	37	1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	554					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)			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)					CACGGATAGCCTTGATGTTCT	0.428																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				307						c.(1660-1662)aaG>aaT		spectrin, alpha, erythrocytic 1							230.0	218.0	222.0					1																	158639514		1918	4124	6042	SO:0001583	missense	6708	0	0					g.chr1:158639514C>A	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.1662G>T	chr1.hg19:g.158639514C>A	ENSP00000357129:p.Lys554Asn	1						p.K554N	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		13	1842	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.1662G>T	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443166	0.12164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.72	2.36	0.29203	4.72	2.36	0.29203	.	0.663319	0.11715	N	0.536488	T	0.16257	0.0391	N	0.16368	0.405	0.19575	N	0.999963	B	0.19706	0.038	B	0.30495	0.116	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4003	0.44225	0.685:0.3149:0.0:0.0	.	554	P02549	SPTA1_HUMAN	N	554	ENSP00000357130:K554N;ENSP00000357129:K554N	ENSP00000357129:K554N	K	-	3	2	2	SPTA1	156906138	156906138	0.956000	0.32656	0.216000	0.23742	0.008000	0.06430	1.365000	0.34182	0.389000	0.25086	-1.224000	0.01588	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	235		235	231	1	2.060000	-20.000000	1	0.170000	NM_003126			316	311		925	909	1		1			0	0	235	0		1	0	0	0	0	0	0	316	925
SPTA1	6708	broad.mit.edu	37	1	158641181	158641181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	517					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)			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)					AGTCTTCATGCTTCTGAAGAA	0.468																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				307						c.(1549-1551)aaG>aaA		spectrin, alpha, erythrocytic 1							118.0	111.0	113.0					1																	158641181		1869	4090	5959	SO:0001819	synonymous_variant	6708	0	0					g.chr1:158641181C>T	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.1551G>A	chr1.hg19:g.158641181C>T		1						p.K517K	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		12	1731	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	1	1	hg19	c.1551G>A	CCDS41423.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_003126			64	63		177	174	0		1			0	0	35	0		1	0	0	0	0	0	0	64	177
SPTA1	6708	broad.mit.edu	37	1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T	rs367689703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	194					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)			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)					TGCAGAACTTCGGTGCGCTCC	0.463																																						ENST00000368147.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				307						c.(580-582)Gaa>Aaa		spectrin, alpha, erythrocytic 1		C	LYS/GLU	1,3769		0,1,1884	118.0	115.0	116.0		580	5.1	1.0	1		116	0,8248		0,0,4124	no	missense	SPTA1	NM_003126.2	56	0,1,6008	TT,TC,CC		0.0,0.0265,0.0083	probably-damaging	194/2420	158650471	1,12017	1885	4124	6009	SO:0001583	missense	6708	6	120840	42				g.chr1:158650471C>T	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.580G>A	chr1.hg19:g.158650471C>T	ENSP00000357129:p.Glu194Lys	1						p.E194K	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		5	760	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.580G>A	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675462	0.88445	2.65E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.000000	0.32459	N	0.006061	T	0.67154	0.2863	M	0.87038	2.855	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.69720	-0.5069	10	0.45353	T	0.12	.	17.2088	0.86925	0.0:1.0:0.0:0.0	.	194	P02549	SPTA1_HUMAN	K	194	ENSP00000357130:E194K;ENSP00000357129:E194K	ENSP00000357129:E194K	E	-	1	0	0	SPTA1	156917095	156917095	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.350000	0.66016	2.627000	0.88993	0.650000	0.86243	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-6.701316	1	0.170000	NM_003126			137	131		383	380	1		1			0	0	89	0		1	0	0	0	0	0	0	137	383
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	114					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.T114A(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)					TCTTCCCTTGTTTTTTCCAGT	0.378																																						ENST00000368147.4	1.000000	0.620000	1	7.500000e-01	0.910000	0.890508	0.910000	1.000000																										1	Substitution - Missense(1)	p.T114A(1)	large_intestine(1)	307						c.(340-342)Aca>Gca		spectrin, alpha, erythrocytic 1							235.0	210.0	218.0					1																	158653211		1858	4108	5966	SO:0001583	missense	6708	0	0					g.chr1:158653211T>C	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.340A>G	chr1.hg19:g.158653211T>C	ENSP00000357129:p.Thr114Ala	1						p.T114A	NM_003126.2	NP_003117.2	1	2	3	2.190011	P02549	SPTA1_HUMAN		3	520	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.340A>G	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	0	SPTA1	156919835	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-7.642538	1	0.170000	NM_003126			29	28		379	373	0		1			0	0	106	0		1	0	0	0	0	0	0	29	379
OR6K2	81448	broad.mit.edu	37	1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(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)					CTATATCCCAGAACAAAGAGT	0.423																																						ENST00000359610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(808-810)ttC>ttA		olfactory receptor, family 6, subfamily K, member 2							103.0	99.0	101.0					1																	158669633		2203	4300	6503	SO:0001583	missense	81448	0	0					g.chr1:158669633G>T	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.810C>A	chr1.hg19:g.158669633G>T	ENSP00000352626:p.Phe270Leu	1						p.F270L	NM_001005279.1	NP_001005279.1	1	2	3	2.190011	Q8NGY2	OR6K2_HUMAN		1	853	-	all_hematologic(112;0.0378)		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	1	1	hg19	c.810C>A	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854524	0.17106	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.03	0.46877	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000525	T	0.00039	0.0001	N	0.04820	-0.15	0.24203	N	0.995501	B	0.11235	0.004	B	0.20384	0.029	T	0.41360	-0.9513	10	0.28530	T	0.3	-14.1783	3.9631	0.09420	0.0876:0.1584:0.5905:0.1635	.	270	Q8NGY2	OR6K2_HUMAN	L	270	ENSP00000352626:F270L	ENSP00000352626:F270L	F	-	3	2	2	OR6K2	156936257	156936257	0.167000	0.22975	0.999000	0.59377	0.980000	0.70556	0.303000	0.19210	1.287000	0.44583	0.655000	0.94253	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_001005279			63	61		184	181	1		1			0	0	45	0		1	0	0	0	0	0	0	63	184
OR6K2	81448	broad.mit.edu	37	1	158669909	158669909	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(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)					GGAGGAAGTCACAGAAGATAT	0.478																																						ENST00000359610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(532-534)tgT>tgC		olfactory receptor, family 6, subfamily K, member 2							130.0	111.0	117.0					1																	158669909		2203	4300	6503	SO:0001819	synonymous_variant	81448	0	0					g.chr1:158669909A>G	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.534T>C	chr1.hg19:g.158669909A>G		1						p.C178C	NM_001005279.1	NP_001005279.1	1	2	3	2.190011	Q8NGY2	OR6K2_HUMAN		1	577	-	all_hematologic(112;0.0378)		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	1	1	hg19	c.534T>C	CCDS30902.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_001005279			117	114		339	335	0		1			0	0	85	0		1	0	0	0	0	0	0	117	339
OR6K6	128371	broad.mit.edu	37	1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408																																						ENST00000368144.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1009-1011)aGg>aTg		olfactory receptor, family 6, subfamily K, member 6							79.0	84.0	82.0					1																	158725615		2203	4300	6503	SO:0001583	missense	128371	0	0					g.chr1:158725615G>T	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.1010G>T	chr1.hg19:g.158725615G>T	ENSP00000357126:p.Arg337Met	1						p.R337M	NM_001005184.1	NP_001005184.1	1	2	3	2.190011	Q8NGW6	OR6K6_HUMAN		1	1106	+	all_hematologic(112;0.0378)		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	1	1	hg19	c.1010G>T	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233255	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.38401	1.14	5.26	1.03	0.20045	5.26	1.03	0.20045	.	1.356070	0.05214	N	0.507211	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.0036	2.9484	0.05853	0.1606:0.4079:0.2922:0.1393	.	337	Q8NGW6	OR6K6_HUMAN	M	337	ENSP00000357126:R337M	ENSP00000357126:R337M	R	+	2	0	0	OR6K6	156992239	156992239	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.014000	0.13333	0.031000	0.15407	0.655000	0.94253	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	1	0	0		2	2	2	0		0	0	86		86	86	1	2.060000	-6.244691	1	0.170000	NM_001005184			118	118		327	322	1		1			0	0	86	0		1	0	0	0	0	0	0	118	327
OR6N1	128372	broad.mit.edu	37	1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CGTATCAGTGCAAGCCAAACT	0.458																																						ENST00000335094.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(565-567)tGc>tAc		olfactory receptor, family 6, subfamily N, member 1							109.0	113.0	111.0					1																	158735907		2203	4300	6503	SO:0001583	missense	128372	0	0					g.chr1:158735907C>T	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.566G>A	chr1.hg19:g.158735907C>T	ENSP00000335535:p.Cys189Tyr	1						p.C189Y	NM_001005185.1	NP_001005185.1	1	2	3	2.190011	Q8NGY5	OR6N1_HUMAN		1	585	-	all_hematologic(112;0.0378)		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	1	1	hg19	c.566G>A	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558087	0.65538	.	.	ENSG00000197403	ENST00000335094	T	0.00462	7.26	4.78	4.78	0.61160	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000116	T	0.01421	0.0046	M	0.93678	3.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.44847	-0.9301	10	0.87932	D	0	-13.5291	16.7399	0.85456	0.0:1.0:0.0:0.0	.	189	Q8NGY5	OR6N1_HUMAN	Y	189	ENSP00000335535:C189Y	ENSP00000335535:C189Y	C	-	2	0	0	OR6N1	157002531	157002531	0.955000	0.32602	1.000000	0.80357	0.966000	0.64601	2.281000	0.43452	2.454000	0.82982	0.655000	0.94253	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	0	0	1		2	2	2	0		0	0	151		151	149	1	2.060000	-20.000000	1	0.170000	NM_001005185			120	120		536	528	1		1			0	0	151	0		1	0	0	0	0	0	0	120	536
MNDA	4332	broad.mit.edu	37	1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					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)			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)					TCTGCAGCTGTGGATCATCCC	0.483																																						ENST00000368141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(508-510)gTg>gGg		myeloid cell nuclear differentiation antigen							258.0	212.0	228.0					1																	158813851		2203	4300	6503	SO:0001583	missense	4332	0	0					g.chr1:158813851T>G	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.509T>G	chr1.hg19:g.158813851T>G	ENSP00000357123:p.Val170Gly	1						p.V170G	NM_002432.1	NP_002423.1	1	2	3	2.190011	P41218	MNDA_HUMAN		4	770	+	all_hematologic(112;0.0378)			Missense_Mutation	SNP	ENST00000368141.4	1	1	hg19	c.509T>G	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.344458	0.01277	.	.	ENSG00000163563	ENST00000368141	T	0.05081	3.5	2.94	-5.88	0.02290	2.94	-5.88	0.02290	.	.	.	.	.	T	0.00784	0.0026	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.23891	T	0.37	-0.2149	6.7544	0.23505	0.2972:0.1296:0.0:0.5732	.	170	P41218	MNDA_HUMAN	G	170	ENSP00000357123:V170G	ENSP00000357123:V170G	V	+	2	0	0	MNDA	157080475	157080475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.082000	0.00045	-4.526000	0.00044	-2.020000	0.00432	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	1	0	1		2	2	2	0		0	0	205		205	204	1	2.060000	-20.000000	1	0.170000	NM_002432			203	198		799	767	1		1	0		0	0	205	0		1	1	0	0	0	127	0	203	799
PYHIN1	149628	broad.mit.edu	37	1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	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	256	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				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)					GAAGGTTTTAAACATCAACTT	0.328																																						ENST00000368140.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(766-768)Aac>Gac		pyrin and HIN domain family, member 1							58.0	61.0	60.0					1																	158911953		2203	4300	6503	SO:0001583	missense	149628	0	0					g.chr1:158911953A>G	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.766A>G	chr1.hg19:g.158911953A>G	ENSP00000357122:p.Asn256Asp	1					PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	p.N256D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	1	2	3	2.190011	Q6K0P9	IFIX_HUMAN		5	1011	+	all_hematologic(112;0.0378)		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	1	1	hg19	c.766A>G	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371365	0.11409	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.85	-1.2	0.09554	2.85	-1.2	0.09554	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03871	0.0109	L	0.41961	1.31	0.09310	N	0.999999	P;P;P;B	0.43477	0.808;0.697;0.808;0.444	B;P;B;B	0.46026	0.357;0.501;0.357;0.373	T	0.29336	-1.0015	9	0.19590	T	0.45	.	3.011	0.06044	0.4912:0.233:0.2758:0.0	.	247;256;247;256	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	D	256;247;256;247	ENSP00000357122:N256D;ENSP00000357120:N247D;ENSP00000376083:N256D;ENSP00000376082:N247D	ENSP00000357120:N247D	N	+	1	0	0	PYHIN1	157178577	157178577	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	0.161000	0.16481	-0.411000	0.07530	0.533000	0.62120	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_152501			87	85		266	260	1		1	0		0	0	48	0		1	8.913580e-01	0	0	0	14	0	87	266
DNAJC16	23341	broad.mit.edu	37	1	15893740	15893740	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15893740C>A	ENST00000375847.3	+	14	2089	c.1925C>A	c.(1924-1926)gCt>gAt	p.A642D	RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	642					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				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)		CAGAAATTTGCTTTGGAGGTC	0.463																																						ENST00000375847.3	0.540000	0.180000	4.400000e-01	2.500000e-01	0.330000	0.351678	0.330000	0.330000																										0				18						c.(1924-1926)gCt>gAt		DnaJ (Hsp40) homolog, subfamily C, member 16							131.0	123.0	126.0					1																	15893740		2203	4300	6503	SO:0001583	missense	23341	0	0					g.chr1:15893740C>A	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.1925C>A	chr1.hg19:g.15893740C>A	ENSP00000365007:p.Ala642Asp	1					DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	p.A642D	NM_015291.2	NP_056106.1	0	0	0	1.821110	Q9Y2G8	DJC16_HUMAN		14	2089	+		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)	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	1	1	hg19	c.1925C>A	CCDS30606.1	0	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853325	0.91355	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	T;T	0.73258	-0.71;-0.73	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.70275	2.135	0.43214	D	0.995088	D	0.89917	1.0	D	0.85130	0.997	D	0.84076	0.0382	10	0.54805	T	0.06	-15.9176	18.3197	0.90234	0.0:1.0:0.0:0.0	.	642	Q9Y2G8	DJC16_HUMAN	D	642	ENSP00000365007:A642D;ENSP00000365009:A642D	ENSP00000365007:A642D	A	+	2	0	0	DNAJC16	15766327	15766327	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.996000	0.76263	2.671000	0.90904	0.650000	0.86243	GCT	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.135138	1	0.170000	NM_015291			12	12		371	359	0		1	1		0	0	73	0		9.989673e-01	3.874251e-01	0	2	0	38	0	12	371
PYHIN1	149628	broad.mit.edu	37	1	158913768	158913768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	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	397	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				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)					GTTTCATCCAGGTGAGAAATA	0.338																																						ENST00000368140.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1189-1191)caG>caT		pyrin and HIN domain family, member 1							51.0	52.0	52.0					1																	158913768		2203	4299	6502	SO:0001630	splice_region_variant	149628	0	0					g.chr1:158913768G>T	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.1191+1G>T	chr1.hg19:g.158913768G>T		1					PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	p.Q397H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	1	2	3	2.190011	Q6K0P9	IFIX_HUMAN		6	1436	+	all_hematologic(112;0.0378)		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Splice_Site	SNP	ENST00000368140.1	1	0	hg19	c.1191G>T	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369596	0.42003	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.04	3.04	0.35103	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.31918	0.0812	L	0.61218	1.895	0.40710	D	0.982568	D;D;D;D	0.65815	0.995;0.991;0.995;0.992	D;P;P;P	0.64506	0.926;0.892;0.859;0.782	T	0.12243	-1.0555	9	0.87932	D	0	.	9.6522	0.39904	0.0:0.0:1.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	397;388;397;388	ENSP00000357122:Q397H;ENSP00000357120:Q388H;ENSP00000376083:Q397H;ENSP00000376082:Q388H	ENSP00000357120:Q388H	Q	+	3	2	2	PYHIN1	157180392	157180392	1.000000	0.71417	0.097000	0.21041	0.107000	0.19398	3.661000	0.54503	1.675000	0.50919	0.591000	0.81541	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_152501	Missense_Mutation		82	82		208	207	1		1	0		0	0	49	0		1	9.156608e-01	0	0	0	13	0	82	208
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338																																						ENST00000295809.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(844-846)gCt>gTt		interferon, gamma-inducible protein 16							65.0	66.0	66.0					1																	158988314		2203	4300	6503	SO:0001583	missense	3428	0	0					g.chr1:158988314C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.845C>T	chr1.hg19:g.158988314C>T	ENSP00000295809:p.Ala282Val	1					IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V	p.A282V			1	2	3	2.190011	Q16666	IF16_HUMAN		5	1100	+	all_hematologic(112;0.0429)		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	1	1	hg19	c.845C>T		1	.	.	.	.	.	.	.	.	.	.	C	8.937	0.964958	0.18583	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	2.9	-0.208	0.13185	2.9	-0.208	0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.25094	0.71	0.09310	N	1	P;P;P	0.46859	0.726;0.477;0.885	B;B;B	0.32980	0.156;0.038;0.156	T	0.32214	-0.9915	8	.	.	.	.	5.1772	0.15141	0.0:0.5616:0.0:0.4384	.	230;282;282	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	282;282;282;282;230	ENSP00000295809:A282V;ENSP00000342741:A282V;ENSP00000357113:A282V;ENSP00000357114:A282V;ENSP00000394935:A230V	.	A	+	2	0	0	IFI16	157254938	157254938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.061000	0.03472	0.086000	0.17137	0.555000	0.69702	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_005531			80	79		223	217	1		1	1		0	0	76	0		1	1	0	104	0	426	0	80	223
CADM3	57863	broad.mit.edu	37	1	159163241	159163241	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.G171G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	137	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)			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)					TCATCACTGGTTATAAATCTT	0.542																																						ENST00000368125.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.990849	0.990000	1.000000																										0				55						c.(409-411)ggT>ggG		cell adhesion molecule 3							106.0	110.0	109.0					1																	159163241		2203	4300	6503	SO:0001819	synonymous_variant	57863	0	0					g.chr1:159163241T>G	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.411T>G	chr1.hg19:g.159163241T>G		1					CADM3_ENST00000368124.4_Silent_p.G171G|CTA-134P22.2_ENST00000415675.2_RNA	p.G137G	NM_001127173.1	NP_001120645.1	1	2	3	2.190011	Q8N126	CADM3_HUMAN		4	568	+	all_hematologic(112;0.0429)		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	1	1	hg19	c.411T>G	CCDS44251.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-13.791770	1	0.170000	NM_021189			45	44		444	436	0		1	0		0	0	92	0		1	2.510639e-02	0	0	0	3	0	45	444
CADM3	57863	broad.mit.edu	37	1	159163289	159163289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.Q187Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	153	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)			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)					TAAACTGTCAGTCTTCTGGGA	0.527																																						ENST00000368125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(457-459)caG>caA		cell adhesion molecule 3							91.0	91.0	91.0					1																	159163289		2203	4300	6503	SO:0001819	synonymous_variant	57863	0	0					g.chr1:159163289G>A	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.459G>A	chr1.hg19:g.159163289G>A		1					CADM3_ENST00000368124.4_Silent_p.Q187Q|CTA-134P22.2_ENST00000415675.2_RNA	p.Q153Q	NM_001127173.1	NP_001120645.1	1	2	3	2.190011	Q8N126	CADM3_HUMAN		4	616	+	all_hematologic(112;0.0429)		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	1	1	hg19	c.459G>A	CCDS44251.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_021189			106	106		297	290	0		1	0		0	0	66	0		1	1.724348e-01	0	0	0	3	0	106	297
CADM3	57863	broad.mit.edu	37	1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	369					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)			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)					TGAGGCAAAAGGCTCCGACGA	0.562																																						ENST00000368125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1105-1107)Ggc>Tgc		cell adhesion molecule 3							95.0	87.0	90.0					1																	159170620		2203	4300	6503	SO:0001583	missense	57863	0	0					g.chr1:159170620G>T	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.1105G>T	chr1.hg19:g.159170620G>T	ENSP00000357107:p.Gly369Cys	1					CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA	p.G369C	NM_001127173.1	NP_001120645.1	1	2	3	2.190011	Q8N126	CADM3_HUMAN		9	1262	+	all_hematologic(112;0.0429)		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	1	1	hg19	c.1105G>T	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607985	0.66558	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.65549	-0.16;-0.02	3.81	3.81	0.43845	3.81	3.81	0.43845	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84007	0.0346	10	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	369;403	Q8N126;Q8N126-2	CADM3_HUMAN;.	C	403;369	ENSP00000357106:G403C;ENSP00000357107:G369C	ENSP00000357106:G403C	G	+	1	0	0	CADM3	157437244	157437244	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_021189			101	100		409	395	1		1	0		0	0	69	0		1	1.034382e-01	0	0	0	3	0	101	409
FCER1A	2205	broad.mit.edu	37	1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	68	Ig-like 1.				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)			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)	TTCCACAATGGCAGCCTTTCA	0.368																																						ENST00000368115.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(202-204)gGc>gAc		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						74.0	72.0	73.0					1																	159273844		2203	4300	6503	SO:0001583	missense	2205	0	0					g.chr1:159273844G>A	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.203G>A	chr1.hg19:g.159273844G>A	ENSP00000357097:p.Gly68Asp	1					FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	p.G68D	NM_002001.3	NP_001992.1	1	2	3	2.190011	P12319	FCERA_HUMAN		4	302	+	all_hematologic(112;0.0429)			Missense_Mutation	SNP	ENST00000368115.1	1	1	hg19	c.203G>A	CCDS1184.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328005	0.24080	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12255	2.7;2.7	4.7	-5.08	0.02929	4.7	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.517714	0.17599	N	0.168482	T	0.03827	0.0108	L	0.49513	1.565	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.38178	-0.9673	10	0.36615	T	0.2	.	11.939	0.52890	0.5089:0.0:0.4911:0.0	.	68	P12319	FCERA_HUMAN	D	68;35	ENSP00000357097:G68D;ENSP00000357096:G35D	ENSP00000357096:G35D	G	+	2	0	0	FCER1A	157540468	157540468	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.513000	0.06305	-0.927000	0.03766	-0.219000	0.12488	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_002001			77	77		375	366	1		1	0		0	0	84	0		1	1.398964e-01	0	0	0	4	0	77	375
FCER1A	2205	broad.mit.edu	37	1	159277659	159277659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	237					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)			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)	TGAAGATTAAGAGAACCAGGA	0.368																																						ENST00000368115.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(709-711)aaG>aaA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						98.0	94.0	95.0					1																	159277659		2203	4300	6503	SO:0001819	synonymous_variant	2205	0	0					g.chr1:159277659G>A	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.711G>A	chr1.hg19:g.159277659G>A		1					FCER1A_ENST00000368114.1_Silent_p.K204K	p.K237K	NM_002001.3	NP_001992.1	1	2	3	2.190011	P12319	FCERA_HUMAN		6	810	+	all_hematologic(112;0.0429)			Silent	SNP	ENST00000368115.1	1	1	hg19	c.711G>A	CCDS1184.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.510423	1	0.170000	NM_002001			70	69		296	294	1		1	0		0	0	48	0		1	1.709000e-01	0	0	0	4	0	70	296
OR10J3	441911	broad.mit.edu	37	1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	rs144550384	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22495	0.0		0.0	False		,,,				2504	0.0					ENST00000332217.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(913-915)Cgt>Tgt		olfactory receptor, family 10, subfamily J, member 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		913	-4.5	0.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	OR10J3	NM_001004467.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/330	159283537	1,13005	2203	4300	6503	SO:0001583	missense	441911	11	121410	46				g.chr1:159283537G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.913C>T	chr1.hg19:g.159283537G>A	ENSP00000331789:p.Arg305Cys	1						p.R305C	NM_001004467.1	NP_001004467.1	1	2	3	2.190011	Q5JRS4	O10J3_HUMAN		1	912	-	all_hematologic(112;0.0429)			Missense_Mutation	SNP	ENST00000332217.5	1	1	hg19	c.913C>T	CCDS30909.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.72	1.429576	0.25726	2.27E-4	0.0	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-4.52	0.03472	5.21	-4.52	0.03472	.	2.411510	0.03146	U	0.167340	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.87932	D	0	.	12.9063	0.58154	0.7819:0.0:0.2181:0.0	.	305	Q5JRS4	O10J3_HUMAN	C	305	ENSP00000331789:R305C	ENSP00000331789:R305C	R	-	1	0	0	OR10J3	157550161	157550161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.088000	0.01359	-0.865000	0.04073	-0.137000	0.14449	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-3.487738	1	0.170000				110	110		447	437	1		1			0	0	99	0		1	0	0	0	0	0	0	110	447
OR10J3	441911	broad.mit.edu	37	1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502																																						ENST00000332217.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(637-639)Ggc>Agc		olfactory receptor, family 10, subfamily J, member 3							164.0	147.0	152.0					1																	159283813		2203	4300	6503	SO:0001583	missense	441911	0	0					g.chr1:159283813C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.637G>A	chr1.hg19:g.159283813C>T	ENSP00000331789:p.Gly213Ser	1						p.G213S	NM_001004467.1	NP_001004467.1	1	2	3	2.190011	Q5JRS4	O10J3_HUMAN		1	636	-	all_hematologic(112;0.0429)			Missense_Mutation	SNP	ENST00000332217.5	1	1	hg19	c.637G>A	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755732	0.03019	.	.	ENSG00000196266	ENST00000332217	T	0.36157	1.27	5.2	1.02	0.19986	5.2	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	N	0.759438	T	0.05502	0.0145	N	0.10618	0.005	0.09310	N	0.999999	B	0.16603	0.018	B	0.21360	0.034	T	0.41893	-0.9483	10	0.27785	T	0.31	.	4.3199	0.11011	0.2964:0.5294:0.0:0.1742	.	213	Q5JRS4	O10J3_HUMAN	S	213	ENSP00000331789:G213S	ENSP00000331789:G213S	G	-	1	0	0	OR10J3	157550437	157550437	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	-0.119000	0.10676	0.029000	0.15352	0.561000	0.74099	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-2.879476	1	0.170000				75	68		481	473	1		1			0	0	123	0		1	0	0	0	0	0	0	75	481
OR10J1	26476	broad.mit.edu	37	1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	192					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478																																						ENST00000423932.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(574-576)Cgc>Tgc		olfactory receptor, family 10, subfamily J, member 1		C	CYS/ARG	0,4406		0,0,2203	233.0	210.0	218.0		574	2.3	0.7	1	dbSNP_134	218	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR10J1	NM_012351.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	192/321	159410122	4,13002	2203	4300	6503	SO:0001583	missense	26476	5	121412	43				g.chr1:159410122C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.574C>T	chr1.hg19:g.159410122C>T	ENSP00000399078:p.Arg192Cys	1					RP11-550P17.5_ENST00000431862.1_RNA	p.R192C	NM_012351.2	NP_036483.2	1	2	3	2.190011	P30954	O10J1_HUMAN		1	611	+	all_hematologic(112;0.0429)		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	1	1	hg19	c.574C>T	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251879	0.22880	0.0	4.65E-4	ENSG00000196184	ENST00000423932	T	0.00145	8.67	4.18	2.29	0.28610	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.197989	0.25222	N	0.032234	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	0.999991	D	0.76494	0.999	D	0.65140	0.932	T	0.13791	-1.0496	10	0.62326	D	0.03	.	3.8628	0.09004	0.1888:0.6068:0.0:0.2043	.	192	P30954	O10J1_HUMAN	C	192	ENSP00000399078:R192C	ENSP00000399078:R192C	R	+	1	0	0	OR10J1	157676746	157676746	0.000000	0.05858	0.657000	0.29651	0.554000	0.35429	-0.571000	0.05889	0.503000	0.28060	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	1	0	1		2	2	2	0		0	0	191		191	188	1	2.060000	-2.720427	1	0.170000	NM_012351			146	145		724	711	1		1			0	0	191	0		1	0	0	0	0	0	0	146	724
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368																																						ENST00000334857.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(61-63)gGa>gAa		olfactory receptor, family 10, subfamily J, member 5							85.0	83.0	83.0					1																	159505736		2203	4300	6503	SO:0001583	missense	127385	0	0					g.chr1:159505736C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.62G>A	chr1.hg19:g.159505736C>T	ENSP00000334441:p.Gly21Glu	1						p.G21E	NM_001004469.1	NP_001004469.1	1	2	3	2.190011	Q8NHC4	O10J5_HUMAN		1	106	-	all_hematologic(112;0.0429)		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	1	1	hg19	c.62G>A	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628761	0.03610	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.29	2.4	0.29515	4.29	2.4	0.29515	.	.	.	.	.	T	0.00666	0.0022	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.47289	-0.9129	9	0.09338	T	0.73	.	3.2892	0.06943	0.2082:0.5749:0.0:0.2169	.	21	Q8NHC4	O10J5_HUMAN	E	21	ENSP00000334441:G21E	ENSP00000334441:G21E	G	-	2	0	0	OR10J5	157772360	157772360	0.000000	0.05858	0.545000	0.28153	0.476000	0.33039	-0.100000	0.10990	1.146000	0.42352	0.557000	0.71058	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_001004469			89	87		490	476	1		1			0	0	100	0		1	0	0	0	0	0	0	89	490
RSC1A1	6248	broad.mit.edu	37	1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	80					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423																																						ENST00000345034.1	0.750000	0.410000	6.700000e-01	4.800000e-01	0.560000	0.579296	0.560000	0.570000																										0				11						c.(238-240)Cat>Tat		regulatory solute carrier protein, family 1, member 1							107.0	109.0	108.0					1																	15986601		2203	4300	6503	SO:0001583	missense	6248	3	121412	35				g.chr1:15986601C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.238C>T	chr1.hg19:g.15986601C>T	ENSP00000341963:p.His80Tyr	1					DDI2_ENST00000480945.1_3'UTR	p.H80Y	NM_006511.1	NP_006502.1	0	0	0	1.821110	Q92681	RSCA1_HUMAN		1	238	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	1	1	hg19	c.238C>T	CCDS161.1	0	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.386950	0.00202	.	.	ENSG00000215695	ENST00000345034	T	0.42513	0.97	5.61	-4.42	0.03579	5.61	-4.42	0.03579	.	0.853756	0.09821	N	0.751463	T	0.11922	0.0290	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30060	-0.9991	10	0.02654	T	1	4.7004	2.8138	0.05450	0.1828:0.4457:0.0908:0.2807	.	80	Q92681	RSCA1_HUMAN	Y	80	ENSP00000341963:H80Y	ENSP00000341963:H80Y	H	+	1	0	0	RSC1A1	15859188	15859188	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.782000	0.04643	-0.654000	0.05394	0.561000	0.74099	CAT	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-6.466969	1	0.170000	NM_006511			38	38		670	654	0		1	1		0	0	131	0		1	7.062136e-01	0	5	0	40	0	38	670
APCS	325	broad.mit.edu	37	1	159558114	159558114	+	Silent	SNP	A	A	G	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	96	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433																																						ENST00000255040.2	1.000000	0.700000	1	8.300000e-01	0.970000	0.933012	0.970000	1.000000																										0				20						c.(286-288)agA>agG		amyloid P component, serum							95.0	94.0	94.0					1																	159558114		2203	4300	6503	SO:0001819	synonymous_variant	325	0	0					g.chr1:159558114A>G		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.288A>G	chr1.hg19:g.159558114A>G		1						p.R96R	NM_001639.3	NP_001630.1	1	2	3	2.190011	P02743	SAMP_HUMAN		2	385	+	all_hematologic(112;0.0429)			Silent	SNP	ENST00000255040.2	1	1	hg19	c.288A>G	CCDS1186.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-10.319490	1	0.170000	NM_001639			40	40		486	481	0		1	0		0	0	77	0		1	9.991712e-01	0	1	0	129	0	40	486
IGSF9	57549	broad.mit.edu	37	1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1169					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)			TGGGGGACTGGCTGTCGATAG	0.622																																						ENST00000368094.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3505-3507)Cca>Tca		immunoglobulin superfamily, member 9							52.0	56.0	55.0					1																	159897170		2109	4133	6242	SO:0001583	missense	57549	0	0					g.chr1:159897170G>A	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.3505C>T	chr1.hg19:g.159897170G>A	ENSP00000357073:p.Pro1169Ser	1					TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	p.P1169S	NM_001135050.1	NP_001128522.1	1	2	3	2.190011	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	21	3702	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)		Missense_Mutation	SNP	ENST00000368094.1	1	1	hg19	c.3505C>T	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258667	0.05791	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.63096	-0.02;0.07	4.89	1.85	0.25348	4.89	1.85	0.25348	.	0.178280	0.27258	N	0.020195	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23440	-1.0188	9	.	.	.	-1.1824	2.9334	0.05807	0.1012:0.1792:0.5347:0.1849	.	1169;707	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1153;1169;707	ENSP00000355049:P1153S;ENSP00000357073:P1169S	.	P	-	1	0	0	IGSF9	158163794	158163794	1.000000	0.71417	0.037000	0.18230	0.431000	0.31685	1.311000	0.33562	0.208000	0.20626	0.563000	0.77884	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_020789			92	87		528	511	1		1	1		0	0	87	0		1	9.323600e-01	0	8	0	20	0	92	528
IGSF9	57549	broad.mit.edu	37	1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1151					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)			CGGCGGAAGGCCAGGAATTCC	0.627																																						ENST00000368094.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				56						c.(3451-3453)Gcc>Tcc		immunoglobulin superfamily, member 9							47.0	51.0	50.0					1																	159897224		2203	4299	6502	SO:0001583	missense	57549	0	0					g.chr1:159897224C>A	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.3451G>T	chr1.hg19:g.159897224C>A	ENSP00000357073:p.Ala1151Ser	1					TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	p.A1151S	NM_001135050.1	NP_001128522.1	1	2	3	2.190011	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	21	3648	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)		Missense_Mutation	SNP	ENST00000368094.1	1	1	hg19	c.3451G>T	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771903	0.90108	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67171	-0.25;-0.17	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.41500	D	0.000879	T	0.62368	0.2422	L	0.27053	0.805	0.33716	D	0.616383	D;D	0.58970	0.984;0.97	D;P	0.68192	0.956;0.681	T	0.63550	-0.6612	9	.	.	.	-17.8032	14.9501	0.71067	0.0:1.0:0.0:0.0	.	1151;689	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1135;1151;689	ENSP00000355049:A1135S;ENSP00000357073:A1151S	.	A	-	1	0	0	IGSF9	158163848	158163848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.635000	0.61332	2.608000	0.88229	0.563000	0.77884	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_020789			76	73		524	512	1		1	1		0	0	95	0		1	8.067386e-01	0	4	0	19	0	76	524
IGSF9	57549	broad.mit.edu	37	1	159899737	159899737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	ENST00000368094.1	-	16	2290	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	698	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)			GCCCGCGAAGGCCACGAGGCG	0.677																																						ENST00000368094.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998744	0.990000	1.000000																										0				56						c.(2092-2094)gCc>gTc		immunoglobulin superfamily, member 9							27.0	26.0	26.0					1																	159899737		2194	4294	6488	SO:0001583	missense	57549	0	0					g.chr1:159899737G>A	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.2093C>T	chr1.hg19:g.159899737G>A	ENSP00000357073:p.Ala698Val	1					IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	p.A698V	NM_001135050.1	NP_001128522.1	1	2	3	2.190011	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	16	2290	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)		Missense_Mutation	SNP	ENST00000368094.1	0	1	hg19	c.2093C>T	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962311	0.74016	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.76060	-0.99;-0.99	4.97	4.97	0.65823	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39274	N	0.001415	T	0.81786	0.4896	M	0.70595	2.14	0.50467	D	0.999879	D	0.76494	0.999	D	0.76575	0.988	T	0.82112	-0.0618	9	.	.	.	-19.5679	15.7293	0.77790	0.0:0.0:1.0:0.0	.	698	Q9P2J2	TUTLA_HUMAN	V	682;698	ENSP00000355049:A682V;ENSP00000357073:A698V	.	A	-	2	0	0	IGSF9	158166361	158166361	1.000000	0.71417	0.986000	0.45419	0.280000	0.26924	8.747000	0.91610	2.296000	0.77279	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.870760	1	0.170000	NM_020789			11	11		58	57	1		1	1		0	0	12	0		9.986935e-01	1.398378e-01	0	3	0	1	0	11	58
KCNJ10	3766	broad.mit.edu	37	1	160011435	160011435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000368089.3	-	2	1114	c.888G>A	c.(886-888)gtG>gtA	p.V296V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	296					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	AGGAAGTGCGCACCTGACAGG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(886-888)gtG>gtA		potassium inwardly-rectifying channel, subfamily J, member 10	Yohimbine(DB01392)						78.0	71.0	73.0					1																	160011435		2203	4300	6503	SO:0001819	synonymous_variant	3766	0	0					g.chr1:160011435C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.888G>A	chr1.hg19:g.160011435C>T		1					KCNJ10_ENST00000509700.1_Intron	p.V296V	NM_002241.4	NP_002232.2	1	2	3	2.190011	P78508	KCJ10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	2	1114	-	all_hematologic(112;0.093)		A3KME7|Q5VUT9|Q8N4I7|Q92808	Silent	SNP	ENST00000368089.3	1	1	hg19	c.888G>A	CCDS1193.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	1	0	1		2	2	2	0		0	0	52		52	49	1	2.060000	-20.000000	1	0.170000	NM_002241			38	38		194	190	1		1			0	0	52	0		1	0	0	0	0	0	0	38	194
IGSF8	93185	broad.mit.edu	37	1	160065030	160065030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160065030C>T	ENST00000368086.1	-	2	287	c.71G>A	c.(70-72)gGa>gAa	p.G24E	IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	24					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	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)			GGCCCAGCATCCCATTCCTGT	0.597																																						ENST00000368086.1	0.840000	0.180000	6.400000e-01	2.900000e-01	0.440000	0.476230	0.440000	0.420000																										0				33						c.(70-72)gGa>gAa		immunoglobulin superfamily, member 8							21.0	23.0	22.0					1																	160065030		2203	4299	6502	SO:0001583	missense	93185	0	0					g.chr1:160065030C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.71G>A	chr1.hg19:g.160065030C>T	ENSP00000357065:p.Gly24Glu	1					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E	p.G24E			1	2	3	2.190011	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)	2	287	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	0	1	hg19	c.71G>A	CCDS1195.1	0	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409436	0.25378	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.10005	3.54;3.54;2.92	4.64	0.423	0.16463	4.64	0.423	0.16463	Immunoglobulin-like (1);	1.406170	0.04787	N	0.430823	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.20519	T	0.43	-2.0868	2.2414	0.04021	0.2633:0.451:0.1286:0.1571	.	24	Q969P0	IGSF8_HUMAN	E	24	ENSP00000316664:G24E;ENSP00000357065:G24E;ENSP00000397464:G24E	ENSP00000316664:G24E	G	-	2	0	0	IGSF8	158331654	158331654	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.555000	0.05999	-0.021000	0.14009	0.563000	0.77884	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-8.352633	1	0.170000	NM_052868			6	5		176	171	0		1	1		0	0	26	0		9.619959e-01	6.444437e-01	0	2	0	60	0	6	176
ATP1A2	477	broad.mit.edu	37	1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	180					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)			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)			GCAGATCAACGCAGAGGAAGT	0.587																																						ENST00000361216.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(538-540)Gca>Aca		ATPase, Na+/K+ transporting, alpha 2 polypeptide							128.0	103.0	112.0					1																	160094128		2203	4300	6503	SO:0001583	missense	477	0	0					g.chr1:160094128G>A	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.538G>A	chr1.hg19:g.160094128G>A	ENSP00000354490:p.Ala180Thr	1					ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	p.A180T	NM_000702.3	NP_000693.1	1	2	3	2.190011	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)	6	627	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	1	1	hg19	c.538G>A	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.117388	0.94385	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91894	-2.93;-2.93	5.11	5.11	0.69529	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.62016	1.91	0.80722	D	1	B;B	0.34372	0.451;0.346	B;B	0.36666	0.147;0.23	D	0.88958	0.3391	10	0.44086	T	0.13	.	17.3108	0.87210	0.0:0.0:1.0:0.0	.	25;180	B4DHD7;P50993	.;AT1A2_HUMAN	T	25;180;180	ENSP00000354490:A180T;ENSP00000376066:A180T	ENSP00000354490:A180T	A	+	1	0	0	ATP1A2	158360752	158360752	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	9.869000	0.99810	2.388000	0.81334	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_000702			26	26		80	79	1		1	0		0	0	24	0		1	0	0	0	0	1	0	26	80
ATP1A2	477	broad.mit.edu	37	1	160099109	160099109	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	460					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)			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)			GCATTGAGCTCTCCTGTGGCT	0.532																																						ENST00000361216.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1378-1380)ctC>ctA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							163.0	159.0	160.0					1																	160099109		2203	4300	6503	SO:0001819	synonymous_variant	477	0	0					g.chr1:160099109C>A	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.1380C>A	chr1.hg19:g.160099109C>A		1					ATP1A2_ENST00000392233.3_Silent_p.L460L	p.L460L	NM_000702.3	NP_000693.1	1	2	3	2.190011	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)	11	1469	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	1	1	hg19	c.1380C>A	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025685	0.19512	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	0.412	0.16397	4.66	0.412	0.16397	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	4	.	.	.	.	7.7827	0.29074	0.154:0.2517:0.5943:0.0	.	.	.	.	Y	171	.	.	S	+	2	0	0	ATP1A2	158365733	158365733	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.305000	0.19254	0.133000	0.18654	-0.234000	0.12200	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1		2	2	2	0		0	0	195		195	194	1	2.060000	-3.167119	1	0.170000	NM_000702			191	185		869	852	1		1	0		0	0	195	0		1	0	0	0	0	1	0	191	869
ATP1A2	477	broad.mit.edu	37	1	160109761	160109761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R996R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007			R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). {ECO:0000269|PubMed:23838748}.		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)			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)			TCATCCTGCGGCGGTATCCTG	0.587																																						ENST00000361216.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(3019-3021)cgG>cgA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							119.0	107.0	111.0					1																	160109761		2203	4300	6503	SO:0001819	synonymous_variant	477	0	0					g.chr1:160109761G>A	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.3021G>A	chr1.hg19:g.160109761G>A		1					ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R996R	p.R1007R	NM_000702.3	NP_000693.1	1	2	3	2.190011	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)	22	3110	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	1	1	hg19	c.3021G>A	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119542	0.20877	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	2.46	0.29980	4.37	2.46	0.29980	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.6645	0.12659	0.1969:0.1822:0.6209:0.0	.	.	.	.	D	701	.	.	G	+	2	0	0	ATP1A2	158376385	158376385	0.028000	0.19301	0.998000	0.56505	0.942000	0.58702	-0.701000	0.05075	0.564000	0.29238	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_000702			135	132		402	393	1		1			0	0	90	0		1	0	0	0	0	0	0	135	402
ATP1A4	480	broad.mit.edu	37	1	160128806	160128806	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	180					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)			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)			CTCTGGTAATTCGAGGAGGAG	0.473																																						ENST00000368081.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(538-540)atT>atC		ATPase, Na+/K+ transporting, alpha 4 polypeptide							93.0	83.0	86.0					1																	160128806		2203	4300	6503	SO:0001819	synonymous_variant	480	0	0					g.chr1:160128806T>C	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.540T>C	chr1.hg19:g.160128806T>C		1						p.I180I	NM_144699.3	NP_653300.2	1	2	3	2.190011	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	5	1011	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	1	1	hg19	c.540T>C	CCDS1197.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-19.998920	1	0.170000	NM_144699			42	39		210	203	0		1			0	0	54	0		1	0	0	0	0	0	0	42	210
ATP1A4	480	broad.mit.edu	37	1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	500					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)			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)			TAGATGTCCATCCACCTTCGG	0.507																																						ENST00000368081.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1498-1500)aTc>aCc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							126.0	127.0	127.0					1																	160141048		2203	4300	6503	SO:0001583	missense	480	0	0					g.chr1:160141048T>C	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.1499T>C	chr1.hg19:g.160141048T>C	ENSP00000357060:p.Ile500Thr	1						p.I500T	NM_144699.3	NP_653300.2	1	2	3	2.190011	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	11	1970	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	1	1	hg19	c.1499T>C	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330839	0.24167	.	.	ENSG00000132681	ENST00000368081	T	0.80738	-1.41	4.29	4.29	0.51040	4.29	4.29	0.51040	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052036	0.64402	D	0.000001	D	0.83649	0.5300	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.85949	0.1463	10	0.87932	D	0	.	11.7097	0.51618	0.0:0.0:0.0:1.0	.	500	Q13733	AT1A4_HUMAN	T	500	ENSP00000357060:I500T	ENSP00000357060:I500T	I	+	2	0	0	ATP1A4	158407672	158407672	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.963000	0.70372	1.921000	0.55644	0.533000	0.62120	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	NM_144699			157	152		491	476	1		1			0	0	126	0		1	0	0	0	0	0	0	157	491
ATP1A4	480	broad.mit.edu	37	1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	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)			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)			AACCTGGTGGCTCTGTGCCAT	0.547																																						ENST00000368081.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2983-2985)Ctc>Ttc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							269.0	262.0	265.0					1																	160156079		2203	4300	6503	SO:0001583	missense	480	0	0					g.chr1:160156079C>T	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.2983C>T	chr1.hg19:g.160156079C>T	ENSP00000357060:p.Leu995Phe	1					ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	p.L995F	NM_144699.3	NP_653300.2	1	2	3	2.190011	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	21	3454	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	1	1	hg19	c.2983C>T	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	c	0.888	-0.726471	0.03158	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96168	-3.93;-3.93	4.95	-9.89	0.00464	4.95	-9.89	0.00464	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.279307	0.34932	N	0.003576	T	0.66005	0.2746	N	0.10707	0.03	0.21762	N	0.999552	B	0.02656	0.0	B	0.15052	0.012	T	0.70432	-0.4873	10	0.02654	T	1	.	10.7308	0.46096	0.0:0.1403:0.2396:0.6201	.	995	Q13733	AT1A4_HUMAN	F	995;131	ENSP00000357060:L995F;ENSP00000433094:L131F	ENSP00000357060:L995F	L	+	1	0	0	ATP1A4	158422703	158422703	0.066000	0.20996	0.413000	0.26509	0.731000	0.41821	-0.802000	0.04545	-1.839000	0.01186	-0.494000	0.04653	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	1		2	2	2	0		0	0	252		252	252	1	2.060000	-20.000000	1	0.170000	NM_144699			273	267		1518	1461	1		1			0	0	252	0		1	0	0	0	0	0	0	273	1518
CASQ1	844	broad.mit.edu	37	1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368078.3	+	1	422	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76					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)			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)			TGAACCCCCCGAGGATGACAA	0.522													G|||	7	0.00139776	0.0038	0.0	5008	,	,		21258	0.0		0.002	False		,,,				2504	0.0					ENST00000368078.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(226-228)Gag>Aag		calsequestrin 1 (fast-twitch, skeletal muscle)		G	LYS/GLU	11,4395	17.9+/-39.9	0,11,2192	97.0	92.0	94.0		226	4.2	1.0	1	dbSNP_133	94	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CASQ1	NM_001231.4	56	0,14,6489	AA,AG,GG		0.0349,0.2497,0.1076	possibly-damaging	76/397	160160767	14,12992	2203	4300	6503	SO:0001583	missense	844	103	121412	50				g.chr1:160160767G>A	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.226G>A	chr1.hg19:g.160160767G>A	ENSP00000357057:p.Glu76Lys	1					CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K	p.E76K			1	2	3	2.190011	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	1	422	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	1	1	hg19	c.226G>A	CCDS1198.2	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.66	1.412613	0.25465	0.002497	3.49E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.128784	0.51477	D	0.000095	T	0.11153	0.0272	L	0.38838	1.175	0.36259	D	0.854407	B	0.29936	0.262	B	0.19148	0.024	T	0.03910	-1.0993	10	0.06494	T	0.89	.	15.5765	0.76392	0.0:0.0:1.0:0.0	.	76	P31415	CASQ1_HUMAN	K	70;76	ENSP00000357058:E70K;ENSP00000357057:E76K	ENSP00000357057:E76K	E	+	1	0	0	CASQ1	158427391	158427391	0.013000	0.17824	1.000000	0.80357	0.994000	0.84299	1.134000	0.31442	2.202000	0.70862	0.449000	0.29647	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.021618	1	0.170000	NM_001231			67	66		191	186	1		1			0	0	49	0		1	0	0	0	0	0	0	67	191
DCAF8	50717	broad.mit.edu	37	1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I|DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612																																						ENST00000368073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1732-1734)aGc>aTc		DDB1 and CUL4 associated factor 8							69.0	69.0	69.0					1																	160187443		2203	4300	6503	SO:0001583	missense	50717	0	0					g.chr1:160187443C>A	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.1733G>T	chr1.hg19:g.160187443C>A	ENSP00000357052:p.Ser578Ile	1					DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I	p.S578I			1	2	3	2.190011	Q5TAQ9	DCAF8_HUMAN		14	2167	-			D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	1	1	hg19	c.1733G>T	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	T	0.81866	0.4913	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.944	D	0.84195	0.0447	10	0.87932	D	0	-11.435	17.0487	0.86511	0.0:1.0:0.0:0.0	.	732;578	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	I	578;578;578;732;559;732	ENSP00000357052:S578I;ENSP00000318227:S578I;ENSP00000357053:S578I;ENSP00000451989:S732I;ENSP00000451235:S732I	ENSP00000318227:S578I	S	-	2	0	0	RP11-574F21.3;DCAF8	158454067	158454067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.549000	0.85964	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_015726			78	76		272	267	1		1	1		0	0	56	0		1	1	0	77	0	232	0	78	272
PEX19	5824	broad.mit.edu	37	1	160253413	160253413	+	Silent	SNP	G	G	A	rs141911166	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	29	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18595	0.0		0.0	False		,,,				2504	0.0					ENST00000368072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(85-87)ttC>ttT		peroxisomal biogenesis factor 19		G	,	5,4401	9.9+/-24.2	0,5,2198	81.0	75.0	77.0		87,87	1.1	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	29/280,29/300	160253413	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5824	22	121412	42				g.chr1:160253413G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.87C>T	chr1.hg19:g.160253413G>A		1					DCAF8_ENST00000608310.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_Intron	p.F29F	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	1	2	3	2.190011	P40855	PEX19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	2	108	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	1	1	hg19	c.87C>T	CCDS1201.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	0	0	1		17	8	2	1		1	1	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_002857			86	82		201	197	0		1	1		1	0	54	0		1	9.999997e-01	0	28	0	75	0	86	201
COPA	1314	broad.mit.edu	37	1	160261125	160261125	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1140					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)			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)			TTCCATCTACCTGTTGGGCCA	0.517											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(3418-3420)caG>caT		coatomer protein complex, subunit alpha							97.0	97.0	97.0					1																	160261125		2203	4300	6503	SO:0001630	splice_region_variant	1314	0	0					g.chr1:160261125C>A	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.3420+1G>T	chr1.hg19:g.160261125C>A		1		OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	p.Q1140H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	1	2	3	2.190011	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	31	3649	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	1	0	hg19	c.3420G>T	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551477	0.86127	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.48836	0.8;0.8	5.96	5.96	0.96718	5.96	5.96	0.96718	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64042	0.871;0.921	T	0.77749	-0.2471	9	.	.	.	-19.816	18.983	0.92761	0.0:1.0:0.0:0.0	.	1140;1149	P53621;P53621-2	COPA_HUMAN;.	H	1149;1140	ENSP00000357048:Q1149H;ENSP00000241704:Q1140H	.	Q	-	3	2	2	COPA	158527749	158527749	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.120000	0.77153	2.831000	0.97527	0.650000	0.86243	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-7.679043	1	0.170000	NM_004371	Missense_Mutation		161	161		443	439	1		1	1		0	0	104	0		1	1	0	113	0	541	0	161	443
COPA	1314	broad.mit.edu	37	1	160277034	160277034	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	407					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)			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)			TCCCTTCAGGCGCTGAGAAGA	0.537																																						ENST00000241704.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1219-1221)gcG>gcA		coatomer protein complex, subunit alpha							121.0	114.0	116.0					1																	160277034		2203	4300	6503	SO:0001630	splice_region_variant	1314	1	121410	32				g.chr1:160277034C>T	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.1220-1G>A	chr1.hg19:g.160277034C>T		1					COPA_ENST00000368069.3_Splice_Site_p.A407A	p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	1	2	3	2.190011	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	14	1450	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	1	0	hg19	c.1221G>A	CCDS1202.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	1	0	0		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_004371	Silent		177	172		456	449	1		1	1		0	0	123	0		1	1	0	53	0	303	0	177	456
COPA	1314	broad.mit.edu	37	1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_ENST00000368069.3_Missense_Mutation_p.K8N|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank|NCSTN_ENST00000294785.5_5'Flank|NCSTN_ENST00000368063.1_5'Flank	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	8					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)			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)			CCCGCGCGCTCTTGGTCTCGA	0.567																																						ENST00000241704.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(22-24)aaG>aaT		coatomer protein complex, subunit alpha							185.0	195.0	191.0					1																	160312937		2203	4300	6503	SO:0001583	missense	1314	0	0					g.chr1:160312937C>A	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.24G>T	chr1.hg19:g.160312937C>A	ENSP00000241704:p.Lys8Asn	1					NCSTN_ENST00000368063.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000294785.5_5'Flank|COPA_ENST00000368069.3_Missense_Mutation_p.K8N	p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	1	2	3	2.190011	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	1	253	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	1	1	hg19	c.24G>T	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270903	0.80469	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80994	-1.44;-1.44	4.99	3.09	0.35607	4.99	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049517	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.971	D	0.85280	0.1061	10	0.87932	D	0	-17.2707	7.1259	0.25471	0.0:0.7243:0.0:0.2757	.	8;8	P53621;P53621-2	COPA_HUMAN;.	N	8	ENSP00000357048:K8N;ENSP00000241704:K8N	ENSP00000241704:K8N	K	-	3	2	2	COPA	158579561	158579561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.516000	0.35856	0.658000	0.30925	0.655000	0.94253	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	0	0	1		2	5	2	1		1	0	209		209	204	1	2.060000	-20.000000	1	0.170000	NM_004371			370	362		984	955	1		1	1		1	0	209	0		1	1	0	31	0	158	0	370	984
SLC25A34	284723	broad.mit.edu	37	1	16064705	16064705	+	Missense_Mutation	SNP	T	T	G	rs554117714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16064705T>G	ENST00000294454.5	+	3	643	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	RP11-288I21.1_ENST00000453804.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	188					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCACCTTCGCCTCTGC	0.667																																						ENST00000294454.5	0.540000	0.130000	4.200000e-01	2.000000e-01	0.290000	0.314992	0.290000	0.280000																										0				9						c.(562-564)Ttc>Gtc		solute carrier family 25, member 34							33.0	40.0	37.0					1																	16064705		2203	4300	6503	SO:0001583	missense	284723	0	0					g.chr1:16064705T>G	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.562T>G	chr1.hg19:g.16064705T>G	ENSP00000294454:p.Phe188Val	1					RP11-169K16.4_ENST00000418525.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	p.F188V	NM_207348.1	NP_997231.1	0	0	0	1.821110	Q6PIV7	S2534_HUMAN		3	643	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	0	1	hg19	c.562T>G	CCDS162.1	0	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393231	0.62066	.	.	ENSG00000162461	ENST00000294454	T	0.79454	-1.27	5.28	5.28	0.74379	5.28	5.28	0.74379	Mitochondrial carrier domain (2);	0.119373	0.56097	D	0.000023	D	0.90484	0.7019	M	0.92219	3.285	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.92838	0.6286	10	0.87932	D	0	.	15.208	0.73195	0.0:0.0:0.0:1.0	.	188	Q6PIV7	S2534_HUMAN	V	188	ENSP00000294454:F188V	ENSP00000294454:F188V	F	+	1	0	0	SLC25A34	15937292	15937292	1.000000	0.71417	0.993000	0.49108	0.044000	0.14063	7.349000	0.79376	1.980000	0.57719	0.460000	0.39030	TTC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	0	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-8.471582	1	0.170000	NM_207348			7	7		252	246	0		1	0		0	0	51	0		9.793415e-01	1.426552e-02	0	0	0	6	0	7	252
CD84	8832	broad.mit.edu	37	1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000311224.4	-	2	224	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368054.3_Missense_Mutation_p.A53D|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.A53D	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	53	Ig-like V-type.				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)			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)			AGAAGTCCAAGCAATGATTTT	0.413																																						ENST00000311224.4	0.670000	0.290000	5.700000e-01	3.700000e-01	0.460000	0.477163	0.460000	0.450000																										0				24						c.(157-159)gCt>gAt		CD84 molecule							118.0	113.0	115.0					1																	160535424		2203	4300	6503	SO:0001583	missense	8832	0	0					g.chr1:160535424G>T	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.158C>A	chr1.hg19:g.160535424G>T	ENSP00000312367:p.Ala53Asp	1					CD84_ENST00000368054.3_Missense_Mutation_p.A53D|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA	p.A53D	NM_001184879.1	NP_001171808.1	1	2	3	2.190011	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)	2	224	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	1	1	hg19	c.158C>A	CCDS53396.1	0	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457780	0.26161	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.11	-0.318	0.12728	5.11	-0.318	0.12728	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.821648	0.11607	N	0.547213	T	0.04815	0.0130	L	0.39020	1.185	0.09310	N	0.999999	D;P;P;B;P;P	0.56035	0.974;0.596;0.763;0.395;0.53;0.53	P;B;B;B;B;B	0.44518	0.452;0.079;0.117;0.053;0.114;0.114	T	0.20273	-1.0280	10	0.18276	T	0.48	-2.547	3.1063	0.06342	0.2666:0.0:0.4121:0.3212	.	53;53;53;53;53;53	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	53	ENSP00000357033:A53D;ENSP00000357027:A53D;ENSP00000312367:A53D;ENSP00000357030:A53D;ENSP00000353163:A53D;ENSP00000357026:A53D	ENSP00000312367:A53D	A	-	2	0	0	CD84	158802048	158802048	0.020000	0.18652	0.228000	0.23943	0.038000	0.13279	0.261000	0.18442	0.119000	0.18210	0.591000	0.81541	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	0	0	1		20	4	2	1		1	1	98		98	98	1	2.060000	-19.399300	1	0.170000	NM_003874			22	21		588	582	0		1	0		1	0	98	0		6.652137e-01	9.497375e-02	0	0	0	45	0	22	588
CD48	962	broad.mit.edu	37	1	160654834	160654834	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368046.3	-	2	315	c.228C>T	c.(226-228)taC>taT	p.Y76Y	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Silent_p.Y76Y	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	76	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423																																						ENST00000368046.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(226-228)taC>taT		CD48 molecule							113.0	118.0	116.0					1																	160654834		2203	4300	6503	SO:0001819	synonymous_variant	962	0	0					g.chr1:160654834G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.228C>T	chr1.hg19:g.160654834G>A		1					RP11-404F10.2_ENST00000443928.2_RNA|CD48_ENST00000368045.3_Silent_p.Y76Y|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.Y76Y	NM_001778.3	NP_001769.2	1	2	3	2.190011	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)	2	315	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	1	1	hg19	c.228C>T	CCDS1208.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_001778			125	122		537	529	1		1	0		0	0	104	0		1	9.999767e-01	0	0	0	67	0	125	537
ITLN1	55600	broad.mit.edu	37	1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	87	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597																																						ENST00000326245.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(259-261)Gag>Aag		intelectin 1 (galactofuranose binding)							103.0	89.0	94.0					1																	160851893		2203	4300	6503	SO:0001583	missense	55600	0	0					g.chr1:160851893C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.259G>A	chr1.hg19:g.160851893C>T	ENSP00000323587:p.Glu87Lys	1					ITLN1_ENST00000487531.1_5'Flank	p.E87K	NM_017625.2	NP_060095.2	1	2	3	2.190011	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)	4	374	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	1	1	hg19	c.259G>A	CCDS1211.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212354	0.79240	.	.	ENSG00000179914	ENST00000326245	T	0.24538	1.85	4.17	4.17	0.49024	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.47857	0.1468	M	0.86502	2.82	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.58165	-0.7684	10	0.87932	D	0	-19.0439	14.0049	0.64456	0.0:1.0:0.0:0.0	.	87	Q8WWA0	ITLN1_HUMAN	K	87	ENSP00000323587:E87K	ENSP00000323587:E87K	E	-	1	0	0	ITLN1	159118517	159118517	0.997000	0.39634	0.461000	0.27105	0.603000	0.37013	3.878000	0.56130	2.129000	0.65627	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_017625			111	107		314	298	1		1	0		0	0	80	0		1	1.709478e-01	0	1	0	2	0	111	314
ITLN2	142683	broad.mit.edu	37	1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	304						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557																																						ENST00000368029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(910-912)gGa>gAa		intelectin 2							75.0	65.0	69.0					1																	160914997		2203	4300	6503	SO:0001583	missense	142683	0	0					g.chr1:160914997C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.911G>A	chr1.hg19:g.160914997C>T	ENSP00000357008:p.Gly304Glu	1					ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	p.G304E	NM_080878.2	NP_543154.1	1	2	3	2.190011	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	8	968	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	1	1	hg19	c.911G>A	CCDS1212.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747339	0.69533	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.17	4.17	0.49024	4.17	4.17	0.49024	.	0.000000	0.49305	U	0.000143	T	0.45796	0.1360	M	0.91038	3.17	0.45541	D	0.998496	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.58126	-0.7691	10	0.56958	D	0.05	-3.3575	14.3514	0.66705	0.0:1.0:0.0:0.0	.	303;304	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	304	ENSP00000357008:G304E	ENSP00000357008:G304E	G	-	2	0	0	ITLN2	159181621	159181621	0.999000	0.42202	0.986000	0.45419	0.492000	0.33523	2.695000	0.47043	2.014000	0.59158	0.555000	0.69702	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_080878			48	47		187	178	1		1			0	0	49	0		1	0	0	0	0	0	0	48	187
FBLIM1	54751	broad.mit.edu	37	1	16101142	16101142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16101142C>T	ENST00000375766.3	+	7	1381	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FBLIM1_ENST00000332305.5_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000375771.1_Silent_p.G247G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	247	LIM zinc-binding 2. {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)			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)		GCAAGTGTGGCGAGGTGGTCC	0.637																																						ENST00000375766.3	1.000000	0.760000	9.300000e-01	8.300000e-01	0.890000	0.892406	0.890000	0.930000																										0				16						c.(739-741)ggC>ggT		filamin binding LIM protein 1							70.0	61.0	64.0					1																	16101142		2203	4300	6503	SO:0001819	synonymous_variant	54751	0	0					g.chr1:16101142C>T		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.741C>T	chr1.hg19:g.16101142C>T		1					FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G|FBLIM1_ENST00000375771.1_Silent_p.G247G	p.G247G	NM_017556.2	NP_060026.2	0	0	0	1.821110	Q8WUP2	FBLI1_HUMAN		7	1381	+		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)	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	1	1	hg19	c.741C>T	CCDS163.1	1																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	0	0	0		18	15	2	1		1	1	85		85	84	1	2.060000	-18.534680	1	0.170000	NM_001024215			52	52		420	411	0		1	1		1	0	85	0		9.999931e-01	9.999400e-01	0	49	0	310	0	52	420
F11R	50848	broad.mit.edu	37	1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T	rs376990307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	116	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)				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)			TAGCTGTTGCCGCCTTCCTCA	0.542																																						ENST00000368026.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(346-348)Ggc>Agc		F11 receptor		C	SER/GLY	0,4406		0,0,2203	212.0	146.0	168.0		346	5.2	0.9	1		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11R	NM_016946.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/300	160970463	1,13005	2203	4300	6503	SO:0001583	missense	50848	4	121412	38				g.chr1:160970463C>T	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.346G>A	chr1.hg19:g.160970463C>T	ENSP00000357005:p.Gly116Ser	1					F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	p.G116S	NM_016946.4	NP_058642.1	1	2	3	2.190011	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)	4	620	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	1	1	hg19	c.346G>A	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979286	0.74360	0.0	1.16E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.39592	1.07;1.07	5.18	5.18	0.71444	5.18	5.18	0.71444	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363922	0.28093	N	0.016631	T	0.46756	0.1409	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.972;0.995	P;B;B;P	0.55112	0.705;0.304;0.304;0.769	T	0.51965	-0.8638	10	0.45353	T	0.12	.	9.7562	0.40504	0.0:0.9054:0.0:0.0946	.	120;116;116;116	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	S	116;116;116;120	ENSP00000357005:G116S;ENSP00000394809:G120S	ENSP00000289779:G116S	G	-	1	0	0	F11R	159237087	159237087	0.989000	0.36119	0.870000	0.34147	0.947000	0.59692	3.702000	0.54800	2.392000	0.81423	0.563000	0.77884	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	0	0	1		17	19	2	1		1	1	96		96	96	1	2.060000	-2.642422	1	0.170000	NM_016946			70	70		417	410	1		1	1		1	0	96	0		1	1	0	152	0	393	0	70	417
ARHGAP30	257106	broad.mit.edu	37	1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T	rs376108588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|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	983					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)			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)			TCGAGAAGCTCGGGACCCCCA	0.592																																						ENST00000368013.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2947-2949)cGa>cAa		Rho GTPase activating protein 30		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	62.0	73.0	70.0		2948,2315	3.7	1.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	983/1102,772/891	161017863	1,13005	2203	4300	6503	SO:0001583	missense	257106	3	121412	38				g.chr1:161017863C>T	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.2948G>A	chr1.hg19:g.161017863C>T	ENSP00000356992:p.Arg983Gln	1					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|USF1_ENST00000368021.3_5'Flank	p.R983Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	1	2	3	2.190011	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)	12	3268	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	1	1	hg19	c.2948G>A	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190700	0.58017	0.0	1.16E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37584	2.63;2.73;1.19	4.57	3.65	0.41850	4.57	3.65	0.41850	.	0.000000	0.37955	N	0.001863	T	0.41328	0.1154	M	0.71581	2.175	0.27381	N	0.95541	D;P	0.89917	1.0;0.614	D;B	0.76575	0.988;0.074	T	0.26224	-1.0109	10	0.44086	T	0.13	.	10.1311	0.42680	0.0:0.8997:0.0:0.1003	.	983;772	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	772;983;806	ENSP00000356995:R772Q;ENSP00000356992:R983Q;ENSP00000356994:R806Q	ENSP00000356992:R983Q	R	-	2	0	0	ARHGAP30	159284487	159284487	0.847000	0.29606	0.984000	0.44739	0.632000	0.37999	2.145000	0.42207	0.890000	0.36211	0.455000	0.32223	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_181720			132	131		571	563	1		1	0		0	0	137	0		1	1	0	1	0	109	0	132	571
ARHGAP30	257106	broad.mit.edu	37	1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	623					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)			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)			GATTGGGGGTTTAGGTCCCAG	0.587																																						ENST00000368013.3	0.580000	0.310000	5.100000e-01	3.700000e-01	0.430000	0.447784	0.430000	0.450000																										0				37						c.(1867-1869)aAa>aCa		Rho GTPase activating protein 30							144.0	143.0	143.0					1																	161018943		2203	4300	6503	SO:0001583	missense	257106	0	0					g.chr1:161018943T>G	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.1868A>C	chr1.hg19:g.161018943T>G	ENSP00000356992:p.Lys623Thr	1					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	1	2	3	2.190011	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)	12	2188	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	1	1	hg19	c.1868A>C	CCDS30918.1	0	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157960	0.09236	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.32988	2.98;2.96;1.43	5.18	1.3	0.21679	5.18	1.3	0.21679	.	0.402704	0.20863	N	0.084316	T	0.08447	0.0210	M	0.67953	2.075	0.09310	N	1	B;P	0.37276	0.309;0.589	B;B	0.30316	0.058;0.114	T	0.25328	-1.0135	10	0.20046	T	0.44	.	4.0315	0.09711	0.0:0.1361:0.4473:0.4166	.	623;623	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	623;623;446	ENSP00000356995:K623T;ENSP00000356992:K623T;ENSP00000356994:K446T	ENSP00000356992:K623T	K	-	2	0	0	ARHGAP30	159285567	159285567	0.017000	0.18338	0.604000	0.28916	0.086000	0.17979	0.109000	0.15417	0.263000	0.21812	0.454000	0.30748	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	0	0	1		2	2	2	0		0	0	195		195	193	1	2.060000	-20.000000	1	0.170000	NM_181720			41	39		1151	1112	0		1	0		0	0	195	0		1	7.290600e-01	0	1	0	73	0	41	1151
DEDD	9191	broad.mit.edu	37	1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000368006.3	-	3	290	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000490843.2_Missense_Mutation_p.L26M|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	26	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				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)			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)			ATGCGGTGCAGGCTGTACAGC	0.572																																						ENST00000368006.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(76-78)Ctg>Atg		death effector domain containing							102.0	94.0	97.0					1																	161094177		2203	4300	6503	SO:0001583	missense	9191	0	0					g.chr1:161094177G>T	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.76C>A	chr1.hg19:g.161094177G>T	ENSP00000356985:p.Leu26Met	1					NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Missense_Mutation_p.L26M	p.L26M	NM_032998.2	NP_127491.1	1	2	3	2.190011	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)	3	290	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	1	1	hg19	c.76C>A	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844544	0.71488	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	DEATH-like (1);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.66352	-0.5945	9	0.87932	D	0	.	9.4848	0.38922	0.0932:0.0:0.9068:0.0	.	26;26;26	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	26	.	ENSP00000356984:L26M	L	-	1	2	2	DEDD	159360801	159360801	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.905000	0.56333	2.669000	0.90835	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.495708	1	0.170000	NM_004216			76	73		323	315	1		1	1		0	0	75	0		1	1	0	49	0	168	0	76	323
UFC1	51506	broad.mit.edu	37	1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567																																						ENST00000368003.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(4-6)gCg>gTg		ubiquitin-fold modifier conjugating enzyme 1							96.0	85.0	89.0					1																	161123792		2203	4300	6503	SO:0001583	missense	51506	0	0					g.chr1:161123792C>T	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.5C>T	chr1.hg19:g.161123792C>T	ENSP00000356982:p.Ala2Val	1					RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	p.A2V	NM_016406.3	NP_057490.2	1	2	3	2.190011	Q9Y3C8	UFC1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	1	251	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	1	1	hg19	c.5C>T	CCDS1220.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368124	0.42003	.	.	ENSG00000143222	ENST00000368003	T	0.38722	1.12	5.98	5.07	0.68467	5.98	5.07	0.68467	.	0.061965	0.64402	D	0.000006	T	0.02649	0.0080	N	0.00162	-1.95	0.49582	D	0.999807	B	0.06786	0.001	B	0.01281	0.0	T	0.45440	-0.9261	10	0.02654	T	1	-14.3177	9.4486	0.38712	0.1438:0.7842:0.0:0.072	.	2	Q9Y3C8	UFC1_HUMAN	V	2	ENSP00000356982:A2V	ENSP00000356982:A2V	A	+	2	0	0	UFC1	159390416	159390416	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.058000	0.57463	1.552000	0.49463	-0.154000	0.13518	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.070456	1	0.170000	NM_016406			54	54		260	254	1		1	1		0	0	75	0		1	1	0	128	0	457	0	54	260
USP21	27005	broad.mit.edu	37	1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000289865.8	+	2	693	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_ENST00000368001.1_Missense_Mutation_p.R158C|USP21_ENST00000368002.3_Missense_Mutation_p.R158C|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	158					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652																																						ENST00000289865.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(472-474)Cgc>Tgc		ubiquitin specific peptidase 21							55.0	56.0	56.0					1																	161130902		2203	4300	6503	SO:0001583	missense	27005	0	0					g.chr1:161130902C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.472C>T	chr1.hg19:g.161130902C>T	ENSP00000289865:p.Arg158Cys	1					RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R158C|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	p.R158C	NM_012475.4	NP_036607.3	1	2	3	2.190011	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	2	693	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	1	1	hg19	c.472C>T	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867316	0.72065	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.164770	0.26503	U	0.024020	T	0.19446	0.0467	N	0.08118	0	0.44162	D	0.996967	D	0.62365	0.991	P	0.47603	0.551	T	0.10800	-1.0614	10	0.72032	D	0.01	.	13.4333	0.61068	0.0:1.0:0.0:0.0	.	158	Q9UK80	UBP21_HUMAN	C	158	ENSP00000356981:R158C;ENSP00000289865:R158C;ENSP00000356980:R158C	ENSP00000289865:R158C	R	+	1	0	0	USP21	159397526	159397526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.538000	0.85594	0.462000	0.41574	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.016562	1	0.170000				71	68		335	324	1		1	1		0	0	72	0		1	9.999553e-01	0	9	0	62	0	71	335
USP21	27005	broad.mit.edu	37	1	161133729	161133729	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000289865.8	+	8	1397	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000368001.1_Silent_p.T392T|USP21_ENST00000493054.1_Intron|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.T392T|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	392	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552																																						ENST00000289865.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1174-1176)acG>acA		ubiquitin specific peptidase 21							142.0	126.0	131.0					1																	161133729		2203	4300	6503	SO:0001819	synonymous_variant	27005	0	0					g.chr1:161133729G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1176G>A	chr1.hg19:g.161133729G>A		1					PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Silent_p.T392T|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_Intron|USP21_ENST00000368001.1_Silent_p.T392T|PPOX_ENST00000367999.4_5'Flank	p.T392T	NM_012475.4	NP_036607.3	1	2	3	2.190011	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	8	1397	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	1	1	hg19	c.1176G>A	CCDS30920.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-3.319034	1	0.170000				82	82		479	471	1		1	1		0	0	100	0		1	9.998964e-01	0	10	0	69	0	82	479
USP21	27005	broad.mit.edu	37	1	161135183	161135183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161135183C>T	ENST00000289865.8	+	13	1865	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000368001.1_Silent_p.S534S|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.S548S|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	548	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCATCCAGCGAGGGCTACG	0.532																																						ENST00000289865.8	0.780000	0.270000	6.400000e-01	3.700000e-01	0.490000	0.511537	0.490000	0.480000																										0				29						c.(1642-1644)agC>agT		ubiquitin specific peptidase 21							66.0	64.0	65.0					1																	161135183		2203	4300	6503	SO:0001819	synonymous_variant	27005	1	121412	31				g.chr1:161135183C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1644C>T	chr1.hg19:g.161135183C>T		1					PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Silent_p.S548S|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Silent_p.S534S|PPOX_ENST00000367999.4_5'Flank	p.S548S	NM_012475.4	NP_036607.3	1	2	3	2.190011	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	13	1865	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	1	1	hg19	c.1644C>T	CCDS30920.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-13.437980	1	0.170000				13	13		331	322	0		1	1		0	0	56	0		9.994726e-01	8.279261e-01	0	7	0	77	0	13	331
PPOX	5498	broad.mit.edu	37	1	161138934	161138934	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161138934G>A	ENST00000367999.4	+	7	1034	c.768G>A	c.(766-768)ccG>ccA	p.P256P	PPOX_ENST00000352210.5_Silent_p.P256P|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	256			P -> R (found in patients with the homozygous variant of variegate porphyria; unknown pathological significance; reported as a polymorphism in some Western European populations; the variant results in reduction of activity in a prokariotyc expression system but has normal activity when expressed in an eukaryotic system; dbSNP:rs12735723). {ECO:0000269|PubMed:10486317, ECO:0000269|PubMed:11286631}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCCAGCCGGTCTGTGGGC	0.572																																						ENST00000367999.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(766-768)ccG>ccA		protoporphyrinogen oxidase							50.0	53.0	52.0					1																	161138934		2203	4300	6503	SO:0001819	synonymous_variant	5498	1	121412	35				g.chr1:161138934G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.768G>A	chr1.hg19:g.161138934G>A		1					PPOX_ENST00000352210.5_Silent_p.P256P|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron	p.P256P	NM_001122764.1	NP_001116236.1	1	2	3	2.190011	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	7	1034	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	1	0	hg19	c.768G>A	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661927	0.14645	.	.	ENSG00000143224	ENST00000537523	.	.	.	5.57	-4.96	0.03038	5.57	-4.96	0.03038	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43196	-0.9406	4	.	.	.	-20.6534	0.8689	0.01210	0.3306:0.1025:0.2661:0.3009	.	.	.	.	Q	69	.	.	R	+	2	0	0	PPOX	159405558	159405558	0.069000	0.21087	0.445000	0.26908	0.743000	0.42351	-0.901000	0.04093	-0.469000	0.06911	-0.937000	0.02696	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	0	0	0		26	6	2	2		2	2	75		75	72	1	2.060000	-3.015060	1	0.170000	NM_000309			75	72		353	342	1		1	1		2	0	75	0		9.999999e-01	9.685708e-01	0	7	0	56	0	75	353
PPOX	5498	broad.mit.edu	37	1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	362					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542																																						ENST00000367999.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15	GRCh37	CI992582	PPOX	I		c.(1084-1086)gGc>gAc		protoporphyrinogen oxidase							83.0	84.0	84.0					1																	161140296		2203	4300	6503	SO:0001583	missense	5498	0	0					g.chr1:161140296G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1085G>A	chr1.hg19:g.161140296G>A	ENSP00000356978:p.Gly362Asp	1					PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D	p.G362D	NM_001122764.1	NP_001116236.1	1	2	3	2.190011	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	10	1351	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	1	1	hg19	c.1085G>A	CCDS1221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140231|2.140231	0.37825|0.37825	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.94280	.|-3.13;-3.13;-3.39	5.42|5.42	4.51|4.51	0.55191|0.55191	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Amine oxidase (1);	.|0.289920	.|0.38272	.|N	.|0.001745	D|D	0.91586|0.91586	0.7342|0.7342	L|L	0.41710|0.41710	1.295|1.295	0.34783|0.34783	D|D	0.734969|0.734969	.|B;B;P;B	.|0.42409	.|0.023;0.147;0.779;0.348	.|B;P;P;P	.|0.58970	.|0.046;0.546;0.849;0.694	D|D	0.91807|0.91807	0.5456|0.5456	5|10	.|0.51188	.|T	.|0.08	5.9863|5.9863	10.12|10.12	0.42614|0.42614	0.09:0.0:0.91:0.0|0.09:0.0:0.91:0.0	.|.	.|107;33;200;362	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	T|D	115;85|362;362;329;107	.|ENSP00000343943:G362D;ENSP00000356978:G362D;ENSP00000396841:G107D	.|ENSP00000343943:G362D	A|G	+|+	1|2	0|0	0|0	PPOX|PPOX	159406920|159406920	159406920|159406920	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.799000|0.799000	0.45148|0.45148	2.632000|2.632000	0.46511|0.46511	1.524000|1.524000	0.49035|0.49035	-0.157000|-0.157000	0.13467|0.13467	GCC|GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_000309			99	100		303	297	1		1	1		0	0	83	0		1	9.999984e-01	0	36	0	26	0	99	303
B4GALT3	8703	broad.mit.edu	37	1	161144912	161144912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161144912C>T	ENST00000319769.5	-	4	582	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.E120E|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	120					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)			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)	GGGAGCGGGGCTCACAACCTG	0.647																																						ENST00000319769.5	0.480000	0.210000	4.100000e-01	2.600000e-01	0.320000	0.339909	0.320000	0.330000																										0				18						c.(358-360)gaG>gaA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						87.0	87.0	87.0					1																	161144912		2203	4300	6503	SO:0001819	synonymous_variant	8703	0	0					g.chr1:161144912C>T	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.360G>A	chr1.hg19:g.161144912C>T		1					B4GALT3_ENST00000367998.1_Silent_p.E120E|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	p.E120E	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	1	2	3	2.190011	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	4	582	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Silent	SNP	ENST00000319769.5	0	1	hg19	c.360G>A	CCDS1222.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	0	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.096056	1	0.170000	NM_003779			23	23		873	857	0		1	1		0	0	114	0		9.999992e-01	9.751158e-01	0	12	0	213	0	23	873
ADAMTS4	9507	broad.mit.edu	37	1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	728	Spacer.				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)			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)	CAGCTTCAGGGCCAAGTAGAT	0.597																																						ENST00000367996.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2182-2184)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 4	Tinzaparin(DB06822)						68.0	69.0	68.0					1																	161161259		2203	4300	6503	SO:0001583	missense	9507	0	0					g.chr1:161161259G>A	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.2183C>T	chr1.hg19:g.161161259G>A	ENSP00000356975:p.Ala728Val	1					ADAMTS4_ENST00000478394.1_5'Flank	p.A728V	NM_005099.4	NP_005090.3	1	2	3	2.190011	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	9	2611	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	1	1	hg19	c.2183C>T	CCDS1223.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867031	0.91511	.	.	ENSG00000158859	ENST00000367996	T	0.63255	-0.03	4.39	4.39	0.52855	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.088861	0.46758	D	0.000278	T	0.67813	0.2933	M	0.78801	2.425	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	T	0.74281	-0.3716	10	0.87932	D	0	.	16.2366	0.82380	0.0:0.0:1.0:0.0	.	728	O75173	ATS4_HUMAN	V	728	ENSP00000356975:A728V	ENSP00000356975:A728V	A	-	2	0	0	ADAMTS4	159427883	159427883	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.382000	0.79729	2.428000	0.82296	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_005099			87	84		401	397	1		1	0		0	0	84	0		1	9.999061e-01	0	0	0	64	0	87	401
ADAMTS4	9507	broad.mit.edu	37	1	161168079	161168079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.G113G|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	113					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)			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)	CAGGCGCCTGGCCCAGGTACT	0.642																																						ENST00000367996.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998545	0.990000	1.000000																										0				43						c.(337-339)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 4	Tinzaparin(DB06822)						41.0	41.0	41.0					1																	161168079		2203	4300	6503	SO:0001819	synonymous_variant	9507	0	0					g.chr1:161168079G>A	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.339C>T	chr1.hg19:g.161168079G>A		1					NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.G113G	p.G113G	NM_005099.4	NP_005090.3	1	2	3	2.190011	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	1	767	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	1	1	hg19	c.339C>T	CCDS1223.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.318798	1	0.170000	NM_005099			35	35		285	279	1		1	0		0	0	55	0		1	9.373099e-01	0	0	0	40	0	35	285
NR1I3	9970	broad.mit.edu	37	1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000367982.4	-	6	771	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	206					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)			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)			GTGGTATTGAGTACGATGTGA	0.483																																						ENST00000367982.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(616-618)Ctc>Ttc		nuclear receptor subfamily 1, group I, member 3							142.0	136.0	138.0					1																	161201197		2203	4300	6503	SO:0001583	missense	9970	0	0					g.chr1:161201197G>A	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.616C>T	chr1.hg19:g.161201197G>A	ENSP00000356961:p.Leu206Phe	1					NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F	p.L206F			1	2	3	2.190011	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	6	771	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		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	1	1	hg19	c.616C>T	CCDS41430.1	1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.277226	0.01410	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.73	2.7	0.31948	5.73	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.213818	0.49305	N	0.000146	D	0.91848	0.7420	N	0.21508	0.67	0.36247	D	0.853640	B;B;D;B;P;B;P;B;D;B;B;B;D;B;B;P;P;D	0.89917	0.107;0.075;1.0;0.01;0.462;0.01;0.752;0.019;1.0;0.12;0.082;0.101;1.0;0.019;0.143;0.572;0.758;1.0	B;B;D;B;B;B;B;B;D;B;B;B;D;B;B;B;B;D	0.97110	0.103;0.055;1.0;0.016;0.115;0.011;0.333;0.033;1.0;0.161;0.048;0.048;1.0;0.033;0.035;0.186;0.285;0.999	D	0.88290	0.2942	9	0.16420	T	0.52	.	11.6402	0.51228	0.0:0.0:0.5307:0.4693	.	206;177;177;206;206;206;206;206;206;206;131;177;177;177;177;177;177;206	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	F	177;206;206;177;206;177;206;206;177;206;177;177;177;131;206;206;206;177;206	ENSP00000425417:L177F;ENSP00000356962:L206F;ENSP00000356959:L206F;ENSP00000407446:L177F;ENSP00000406493:L206F;ENSP00000399361:L177F;ENSP00000412672:L206F;ENSP00000424934:L206F;ENSP00000423666:L177F;ENSP00000356961:L206F;ENSP00000424345:L177F;ENSP00000427175:L177F;ENSP00000356960:L177F;ENSP00000421588:L131F;ENSP00000356963:L206F;ENSP00000356965:L206F;ENSP00000356958:L206F;ENSP00000423089:L177F;ENSP00000427034:L206F	ENSP00000356958:L206F	L	-	1	0	0	NR1I3	159467821	159467821	0.996000	0.38824	0.276000	0.24689	0.457000	0.32468	2.861000	0.48380	0.282000	0.22254	-0.293000	0.09583	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				144	134		402	383	1		1	1		0	0	103	0		1	1.734862e-01	0	3	0	0	0	144	402
MPZ	4359	broad.mit.edu	37	1	161277072	161277072	+	Silent	SNP	G	G	A	rs545129173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000526189.1_5'Flank	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	70	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)			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)			TGCCCCCTTCGGGCTGGTAGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.001					ENST00000533357.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				10						c.(208-210)ccC>ccT		myelin protein zero							51.0	45.0	47.0					1																	161277072		2203	4300	6503	SO:0001819	synonymous_variant	4359	9	121412	40				g.chr1:161277072G>A	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.210C>T	chr1.hg19:g.161277072G>A		1					MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000491222.2_5'UTR	p.P70P	NM_000530.6	NP_000521.2	1	2	3	2.190011	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	2	276	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	1	1	hg19	c.210C>T	CCDS1229.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.834873	1	0.170000	NM_000530			34	34		182	177	1		1	0		0	0	59	0		1	2.495792e-01	0	1	0	5	0	34	182
FCGR2A	2212	broad.mit.edu	37	1	161483694	161483694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161483694C>T	ENST00000271450.6	+	6	790	c.752C>T	c.(751-753)aCt>aTt	p.T251I	FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	251					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)				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)	GCCAATTCCACTGATCCTGTG	0.502																																						ENST00000271450.6	0.520000	0.270000	4.500000e-01	3.200000e-01	0.380000	0.393161	0.380000	0.390000																										0				19						c.(751-753)aCt>aTt		Fc fragment of IgG, low affinity IIa, receptor (CD32)	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)						307.0	302.0	304.0					1																	161483694		2203	4300	6503	SO:0001583	missense	2212	0	0					g.chr1:161483694C>T	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.752C>T	chr1.hg19:g.161483694C>T	ENSP00000271450:p.Thr251Ile	1					RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I	p.T251I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	1	2	3	2.190011	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	6	790	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	0	1	hg19	c.752C>T	CCDS44264.1	0	.	.	.	.	.	.	.	.	.	.	.	9.031	0.987260	0.18889	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01821	4.62;4.62	2.16	0.207	0.15214	2.16	0.207	0.15214	.	0.547369	0.14986	N	0.286962	T	0.00695	0.0023	L	0.55481	1.735	0.21604	N	0.999625	P;P	0.43352	0.704;0.804	B;B	0.37550	0.183;0.253	T	0.52631	-0.8550	9	0.45353	T	0.12	.	4.3943	0.11355	0.0:0.6442:0.0:0.3558	.	251;250	P12318;P12318-2	FCG2A_HUMAN;.	I	250;251	ENSP00000356949:T250I;ENSP00000271450:T251I	ENSP00000271450:T251I	T	+	2	0	0	FCGR2A	159750318	159750318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.148000	0.16224	0.044000	0.15775	-0.291000	0.09656	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	0	0	1		19	4	2	1		1	1	216		216	215	1	2.060000	-3.188688	1	0.170000	NM_021642			36	30		1160	1113	0		1	0		1	0	216	0		9.893433e-01	4.387879e-01	0	0	0	110	0	36	1160
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.D279D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280					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)				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)	CCAACAATGACTATGAAACAG	0.448																																						ENST00000271450.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(838-840)gaC>gaT		Fc fragment of IgG, low affinity IIa, receptor (CD32)	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)						99.0	100.0	100.0					1																	161487824		2203	4300	6503	SO:0001819	synonymous_variant	2212	0	0					g.chr1:161487824C>T	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.840C>T	chr1.hg19:g.161487824C>T		1					RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000486608.1_3'UTR	p.D280D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	1	2	3	2.190011	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	7	878	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	1	1	hg19	c.840C>T	CCDS44264.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	1	0	0		2	2	2	0		0	0	75		75	84	1	2.060000	-20.000000	1	0.170000	NM_021642			95	82		274	237	1		1	0		0	0	75	0		1	1	0	0	0	406	0	95	274
HSPA6	3310	broad.mit.edu	37	1	161494843	161494843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161494843C>T	ENST00000309758.4	+	1	808	c.395C>T	c.(394-396)aCg>aTg	p.T132M	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	132					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAAGGAGACGGCCGAGGCG	0.652																																						ENST00000309758.4	0.990000	0.220000	7.500000e-01	3.500000e-01	0.520000	0.556974	0.520000	1.000000																										0				21						c.(394-396)aCg>aTg		heat shock 70kDa protein 6 (HSP70B')							18.0	20.0	19.0					1																	161494843		2189	4277	6466	SO:0001583	missense	3310	0	0					g.chr1:161494843C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.395C>T	chr1.hg19:g.161494843C>T	ENSP00000310219:p.Thr132Met	1					RP11-25K21.6_ENST00000537821.2_RNA	p.T132M	NM_002155.3	NP_002146.2	1	2	3	2.190011	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	1	808	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	0	1	hg19	c.395C>T	CCDS1231.1	0	.	.	.	.	.	.	.	.	.	.	.	10.02	1.235850	0.22626	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.12	0.154	0.14901	3.12	0.154	0.14901	.	0.000000	0.40908	U	0.000996	T	0.02193	0.0068	M	0.92507	3.315	0.31186	N	0.701505	D	0.59767	0.986	P	0.55999	0.789	T	0.09707	-1.0662	9	0.87932	D	0	-24.4216	6.6142	0.22769	0.0:0.6496:0.0:0.3504	.	132	P17066	HSP76_HUMAN	M	132;108	ENSP00000310219:T132M	ENSP00000310219:T132M	T	+	2	0	0	HSPA6	159761467	159761467	0.914000	0.31030	0.129000	0.21949	0.160000	0.22226	1.551000	0.36233	-0.194000	0.10399	-0.480000	0.04831	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	0	0	0		2	2	2	0		0	0	31		31	49	1	2.060000	-8.999548	1	0.170000	NM_002155			6	4		148	126	0		1	0		0	0	31	0		9.424919e-01	5.045914e-02	0	1	0	7	0	6	148
HSPA6	3310	broad.mit.edu	37	1	161495182	161495182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	ENST00000309758.4	+	1	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	245					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTTCATGGAAGAATTCCGG	0.612																																						ENST00000309758.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999847	0.990000	1.000000																										0				21						c.(733-735)gAa>gCa		heat shock 70kDa protein 6 (HSP70B')							11.0	12.0	12.0					1																	161495182		2196	4261	6457	SO:0001583	missense	3310	0	0					g.chr1:161495182A>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.734A>C	chr1.hg19:g.161495182A>C	ENSP00000310219:p.Glu245Ala	1					RP11-25K21.6_ENST00000537821.2_RNA	p.E245A	NM_002155.3	NP_002146.2	1	2	3	2.190011	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	1	1147	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	0	1	hg19	c.734A>C	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	2.387	-0.340732	0.05243	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10573	2.86	3.33	2.14	0.27477	3.33	2.14	0.27477	.	0.328529	0.21359	U	0.075823	T	0.01940	0.0061	N	0.13299	0.325	0.39726	D	0.971536	B	0.20550	0.046	B	0.28784	0.094	T	0.41645	-0.9497	10	0.18276	T	0.48	.	7.5452	0.27761	0.781:0.2189:0.0:0.0	.	245	P17066	HSP76_HUMAN	A	245;221	ENSP00000310219:E245A	ENSP00000310219:E245A	E	+	2	0	0	HSPA6	159761806	159761806	0.450000	0.25697	0.014000	0.15608	0.037000	0.13140	1.070000	0.30653	0.326000	0.23384	0.478000	0.44815	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_002155			21	13		120	82	0		1	0		0	0	28	0		9.999327e-01	4.650324e-01	0	0	0	10	0	21	120
HSPA6	3310	broad.mit.edu	37	1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACCTCTTCCGCAGCACCCTG	0.632																																						ENST00000309758.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(937-939)cGc>cAc		heat shock 70kDa protein 6 (HSP70B')							20.0	23.0	22.0					1																	161495386		2201	4295	6496	SO:0001583	missense	3310	0	0					g.chr1:161495386G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.938G>A	chr1.hg19:g.161495386G>A	ENSP00000310219:p.Arg313His	1					RP11-25K21.6_ENST00000537821.2_RNA	p.R313H	NM_002155.3	NP_002146.2	1	2	3	2.190011	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	1	1351	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	1	1	hg19	c.938G>A	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509864	0.64522	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	3.12	0.35913	3.12	3.12	0.35913	.	0.187022	0.25919	U	0.027454	T	0.04815	0.0130	M	0.90922	3.16	0.44110	D	0.99688	D	0.89917	1.0	D	0.91635	0.999	T	0.02691	-1.1123	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	313	P17066	HSP76_HUMAN	H	313;289	ENSP00000310219:R313H	ENSP00000310219:R313H	R	+	2	0	0	HSPA6	159762010	159762010	1.000000	0.71417	0.930000	0.37139	0.643000	0.38383	5.496000	0.66918	1.544000	0.49359	0.543000	0.68304	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	1	0	1		2	2	2	0		0	0	34		34	41	1	2.060000	-20.000000	1	0.170000	NM_002155			34	30		152	136	0		1	0		0	0	34	0		1	1.616431e-01	0	0	0	4	0	34	152
FCRLB	127943	broad.mit.edu	37	1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	175	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				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)			ATGCGCATCCCGGTGGAGAGC	0.637											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367948.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(523-525)cCg>cTg		Fc receptor-like B							35.0	37.0	36.0					1																	161695827		2203	4300	6503	SO:0001583	missense	127943	0	0					g.chr1:161695827C>T	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.524C>T	chr1.hg19:g.161695827C>T	ENSP00000356925:p.Pro175Leu	1		OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1818	FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR	p.P175L			1	2	3	2.190011	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)	6	739	+	all_hematologic(112;0.0359)		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	1	1	hg19	c.524C>T	CCDS30927.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547364	0.86022	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82;5.82	4.51	4.51	0.55191	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.256742	0.27715	N	0.018148	T	0.01189	0.0039	L	0.36672	1.1	0.50039	D	0.999846	D;D;D;D;D	0.89917	0.981;1.0;0.999;0.994;1.0	B;D;P;P;D	0.87578	0.43;0.998;0.864;0.764;0.987	T	0.75260	-0.3380	10	0.48119	T	0.1	.	12.7124	0.57098	0.0:1.0:0.0:0.0	.	168;168;175;175;175	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	L	175;175;168;175;168;175	ENSP00000356925:P175L;ENSP00000356923:P175L;ENSP00000356922:P168L;ENSP00000338598:P175L;ENSP00000356921:P168L;ENSP00000375999:P175L	ENSP00000338598:P175L	P	+	2	0	0	FCRLB	159962451	159962451	0.946000	0.32159	0.995000	0.50966	0.976000	0.68499	2.163000	0.42377	2.038000	0.60285	0.455000	0.32223	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-2.996024	1	0.170000	NM_152378			51	51		258	254	1		1	0		0	0	60	0		1	2.840300e-02	0	0	0	2	0	51	258
DUSP12	11266	broad.mit.edu	37	1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	121	Tyrosine-protein phosphatase.				cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388																																						ENST00000367943.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(361-363)cGa>cAa		dual specificity phosphatase 12							131.0	133.0	132.0					1																	161721475		2203	4300	6503	SO:0001583	missense	11266	0	0					g.chr1:161721475G>A	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.362G>A	chr1.hg19:g.161721475G>A	ENSP00000356920:p.Arg121Gln	1						p.R121Q	NM_007240.1	NP_009171.1	1	2	3	2.190011	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)	2	394	+	all_hematologic(112;0.0359)		Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	1	1	hg19	c.362G>A	CCDS1234.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300539	0.81136	.	.	ENSG00000081721	ENST00000367943	D	0.98345	-4.88	5.04	5.04	0.67666	5.04	5.04	0.67666	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	0.99414	0.9793	H	0.97918	4.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	9	0.87932	D	0	.	16.2929	0.82759	0.0:0.0:1.0:0.0	.	121	Q9UNI6	DUS12_HUMAN	Q	121	ENSP00000356920:R121Q	ENSP00000356920:R121Q	R	+	2	0	0	DUSP12	159988099	159988099	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.939000	0.87685	2.504000	0.84457	0.479000	0.44913	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-20.000000	1	0.170000	NM_007240			123	121		583	568	1		1	1		0	0	138	0		1	9.999086e-01	0	10	0	55	0	123	583
ATF6	22926	broad.mit.edu	37	1	161821543	161821543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	451					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)			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)	TGACAAAGCCCTGATGGTGCT	0.368																																						ENST00000367942.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1351-1353)Ctg>Ttg		activating transcription factor 6	Pseudoephedrine(DB00852)						215.0	195.0	202.0					1																	161821543		2203	4300	6503	SO:0001819	synonymous_variant	22926	0	0					g.chr1:161821543C>T	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.1351C>T	chr1.hg19:g.161821543C>T		1					ATF6_ENST00000476437.1_3'UTR	p.L451L	NM_007348.3	NP_031374.2	1	2	3	2.190011	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)	11	1418	+	all_hematologic(112;0.156)		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	1	1	hg19	c.1351C>T	CCDS1235.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-3.075962	1	0.170000	NM_007348			140	139		754	737	0		1	1		0	0	140	0		1	1	0	51	0	155	0	140	754
OLFML2B	25903	broad.mit.edu	37	1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000294794.3	-	5	1253	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	277					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			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)			CTGCAGGGGCCGCTGTGACTT	0.607																																						ENST00000294794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(829-831)cGg>cAg		olfactomedin-like 2B							54.0	55.0	54.0					1																	161970022		2203	4300	6503	SO:0001583	missense	25903	5	121412	39				g.chr1:161970022C>T	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.830G>A	chr1.hg19:g.161970022C>T	ENSP00000294794:p.Arg277Gln	1					OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	p.R277Q	NM_015441.1	NP_056256.1	1	2	3	2.190011	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)	5	1253	-	all_hematologic(112;0.156)		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	1	1	hg19	c.830G>A	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014654	0.35511	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86627	-2.15;-2.15	5.22	2.2	0.27929	5.22	2.2	0.27929	.	.	.	.	.	T	0.50034	0.1592	N	0.08118	0	0.26593	N	0.973169	B;B	0.13594	0.008;0.006	B;B	0.06405	0.001;0.002	T	0.04509	-1.0946	8	0.18276	T	0.48	.	5.8403	0.18629	0.0:0.5323:0.2982:0.1695	.	278;277	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Q	277;278	ENSP00000294794:R277Q;ENSP00000356917:R278Q	ENSP00000294794:R277Q	R	-	2	0	0	OLFML2B	160236646	160236646	0.722000	0.28017	0.959000	0.39883	0.888000	0.51559	0.307000	0.19296	0.172000	0.19760	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	1	0	1		2	2	2	0		0	0	89		89	82	1	2.060000	-20.000000	1	0.170000	NM_015441			75	75		416	403	1		1	0		0	0	89	0		1	1	0	0	0	142	0	75	416
NOS1AP	9722	broad.mit.edu	37	1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T	rs370293556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	200					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)			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)			TCCTGCAGGCCGCCAGCTCAC	0.552																																						ENST00000361897.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(598-600)Cgc>Tgc		nitric oxide synthase 1 (neuronal) adaptor protein		C	CYS/ARG,CYS/ARG	3,4403	8.1+/-20.4	0,3,2200	56.0	57.0	57.0		583,598	4.5	1.0	1		57	0,8600		0,0,4300	no	missense,missense	NOS1AP	NM_001164757.1,NM_014697.2	180,180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	195/502,200/507	162324979	3,13003	2203	4300	6503	SO:0001583	missense	9722	8	121412	41				g.chr1:162324979C>T	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.598C>T	chr1.hg19:g.162324979C>T	ENSP00000355133:p.Arg200Cys	1					NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	p.R200C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	1	2	3	2.190011	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)	7	1000	+	all_hematologic(112;0.203)		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	1	1	hg19	c.598C>T	CCDS1237.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718500	0.48622	6.81E-4	0.0	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.18;-1.18	5.41	4.49	0.54785	5.41	4.49	0.54785	.	0.258632	0.40144	N	0.001173	T	0.42314	0.1197	N	0.13003	0.285	.	.	.	B;B;B	0.23591	0.088;0.018;0.018	B;B;B	0.08055	0.003;0.003;0.003	T	0.39921	-0.9590	9	0.45353	T	0.12	.	7.3999	0.26958	0.0:0.8359:0.0:0.1641	.	195;195;200	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	195;200	ENSP00000431586:R195C;ENSP00000355133:R200C	ENSP00000355133:R200C	R	+	1	0	0	NOS1AP	160591603	160591603	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.114000	0.41911	2.523000	0.85059	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	0	0	1		20	2	2	1		1	1	87		87	87	1	2.060000	-3.076245	1	0.170000	NM_014697			80	80		459	450	1		1	1		1	0	87	0		1	2.828975e-01	0	3	0	4	0	80	459
C1orf111	284680	broad.mit.edu	37	1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602																																						ENST00000367935.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(598-600)Agc>Cgc		chromosome 1 open reading frame 111							116.0	115.0	115.0					1																	162344026		2203	4300	6503	SO:0001583	missense	284680	0	0					g.chr1:162344026T>G	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.598A>C	chr1.hg19:g.162344026T>G	ENSP00000356912:p.Ser200Arg	1					RP11-565P22.6_ENST00000431696.1_Intron	p.S200R	NM_182581.3	NP_872387.2	1	2	3	2.190011	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)	3	677	-	all_hematologic(112;0.15)		Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	1	1	hg19	c.598A>C	CCDS1238.1	1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646307	0.67358	.	.	ENSG00000171722	ENST00000367935	T	0.31510	1.49	5.14	4.02	0.46733	5.14	4.02	0.46733	.	0.141394	0.50627	D	0.000109	T	0.31979	0.0814	M	0.72118	2.19	0.29686	N	0.84129	D	0.55385	0.971	P	0.58454	0.839	T	0.26780	-1.0093	9	0.46703	T	0.11	-30.4254	8.3206	0.32126	0.0:0.0907:0.0:0.9093	.	200	Q5T0L3	CA111_HUMAN	R	200	ENSP00000356912:S200R	ENSP00000356912:S200R	S	-	1	0	0	C1orf111	160610650	160610650	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.535000	0.36061	0.811000	0.34303	0.533000	0.62120	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	1	0	1		2	2	2	0		0	0	186		186	185	1	2.060000	-20.000000	1	0.170000	NM_182581			249	244		718	708	1		1	0		0	0	186	0		1	6.676029e-02	0	1	0	1	0	249	718
SPEN	23013	broad.mit.edu	37	1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				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)			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)		TAACCAAGATCGTACATATTA	0.408																																						ENST00000375759.3	1.000000	0.870000	1	9.000000e-01	0.920000	0.939581	0.920000	0.930000																										0				149						c.(1888-1890)Cgt>Tgt		spen family transcriptional repressor							79.0	80.0	80.0					1																	16254623		2203	4300	6503	SO:0001583	missense	23013	2	121412	36				g.chr1:16254623C>T		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.1888C>T	chr1.hg19:g.16254623C>T	ENSP00000364912:p.Arg630Cys	1						p.R630C	NM_015001.2	NP_055816.2	0	0	0	1.821110	Q96T58	MINT_HUMAN		11	2092	+		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)	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	1	1	hg19	c.1888C>T	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013004	0.54468	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	4.54	4.54	0.55810	.	.	.	.	.	T	0.28566	0.0707	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	9	0.72032	D	0.01	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	C	630	ENSP00000364912:R630C	ENSP00000364912:R630C	R	+	1	0	0	SPEN	16127210	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-3.691303	1	0.170000	NM_015001			88	87		346	337	1		1	1		0	0	87	0		1	9.985639e-01	0	7	0	33	0	88	346
SPEN	23013	broad.mit.edu	37	1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	810	Arg-rich.				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)			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)		ACGCTTAATACGGAAGGAAAA	0.423																																						ENST00000375759.3	1.000000	0.720000	9.300000e-01	8.100000e-01	0.880000	0.875195	0.880000	0.930000																										0				149						c.(2428-2430)Cgg>Tgg		spen family transcriptional repressor							81.0	85.0	84.0					1																	16255163		2203	4300	6503	SO:0001583	missense	23013	0	0					g.chr1:16255163C>T		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.2428C>T	chr1.hg19:g.16255163C>T	ENSP00000364912:p.Arg810Trp	1						p.R810W	NM_015001.2	NP_055816.2	0	0	0	1.821110	Q96T58	MINT_HUMAN		11	2632	+		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)	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	1	1	hg19	c.2428C>T	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428832	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.89	2.76	0.32466	4.89	2.76	0.32466	.	.	.	.	.	T	0.11495	0.0280	L	0.56769	1.78	0.52099	D	0.999943	P	0.48694	0.914	B	0.35182	0.197	T	0.05920	-1.0856	9	0.87932	D	0	-8.5576	7.0484	0.25059	0.4093:0.4772:0.0:0.1135	.	810	Q96T58	MINT_HUMAN	W	810	ENSP00000364912:R810W	ENSP00000364912:R810W	R	+	1	2	2	SPEN	16127750	16127750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	0.481000	0.27557	0.563000	0.77884	CGG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-14.248430	1	0.170000	NM_015001			45	45		395	389	1		1	1		0	0	105	0		1	9.884905e-01	0	5	0	58	0	45	395
SPEN	23013	broad.mit.edu	37	1	16258456	16258456	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1907					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)			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)		TAAGGAGCGTCTATGCAACCA	0.512																																						ENST00000375759.3	1.000000	0.690000	9.200000e-01	7.900000e-01	0.870000	0.862969	0.870000	0.930000																										0				149						c.(5719-5721)gtC>gtA		spen family transcriptional repressor							75.0	78.0	77.0					1																	16258456		2203	4300	6503	SO:0001819	synonymous_variant	23013	0	0					g.chr1:16258456C>A		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.5721C>A	chr1.hg19:g.16258456C>A		1						p.V1907V	NM_015001.2	NP_055816.2	0	0	0	1.821110	Q96T58	MINT_HUMAN		11	5925	+		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)	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	1	1	hg19	c.5721C>A	CCDS164.1	1																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_015001			43	41		401	395	1		1	1		0	0	93	0		1	9.856415e-01	0	9	0	55	0	43	401
SPEN	23013	broad.mit.edu	37	1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	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)			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)		CTGGCCCATCGGTCCCTGCCC	0.622																																						ENST00000375759.3	1.000000	0.880000	1	9.000000e-01	0.920000	0.940373	0.920000	0.930000																										0				149						c.(10606-10608)cGg>cAg		spen family transcriptional repressor							88.0	85.0	86.0					1																	16264404		2203	4300	6503	SO:0001583	missense	23013	1	121412	29				g.chr1:16264404G>A		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.10607G>A	chr1.hg19:g.16264404G>A	ENSP00000364912:p.Arg3536Gln	1						p.R3536Q	NM_015001.2	NP_055816.2	0	0	0	1.821110	Q96T58	MINT_HUMAN		13	10811	+		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)	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	1	1	hg19	c.10607G>A	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727230	0.89390	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.3	5.3	0.74995	5.3	5.3	0.74995	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	0.10423	0.0255	L	0.38175	1.15	0.58432	D	0.999999	P	0.48294	0.908	B	0.39217	0.294	T	0.26538	-1.0100	9	0.18276	T	0.48	-15.3801	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3536	Q96T58	MINT_HUMAN	Q	3536	ENSP00000364912:R3536Q	ENSP00000364912:R3536Q	R	+	2	0	0	SPEN	16136991	16136991	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.350000	0.97070	2.628000	0.89032	0.655000	0.94253	CGG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1		2	2	2	0		0	0	136		136	133	1	2.060000	-2.863796	1	0.170000	NM_015001			97	95		422	418	1		1	1		0	0	136	0		1	1	0	49	0	65	0	97	422
UHMK1	127933	broad.mit.edu	37	1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	66	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)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642																																						ENST00000489294.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(196-198)Gcc>Acc		U2AF homology motif (UHM) kinase 1							16.0	18.0	17.0					1																	162467986		2202	4300	6502	SO:0001583	missense	127933	0	0					g.chr1:162467986G>A	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.196G>A	chr1.hg19:g.162467986G>A	ENSP00000420270:p.Ala66Thr	1					UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000282169.8_3'UTR	p.A66T	NM_175866.4	NP_787062.1	1	2	3	2.190011	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)	1	354	+	all_hematologic(112;0.115)		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	1	1	hg19	c.196G>A	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983902	0.53827	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.65732	-0.17;-0.17	4.94	4.0	0.46444	4.94	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177523	0.50627	D	0.000113	T	0.34019	0.0883	L	0.41079	1.255	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.41790	T	0.15	-7.9138	10.5334	0.44990	0.0:0.0:0.8071:0.1929	.	66;66	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	T	66	ENSP00000446416:A66T;ENSP00000420270:A66T	ENSP00000420270:A66T	A	+	1	0	0	UHMK1	160734610	160734610	.	.	0.596000	0.28811	0.984000	0.73092	.	.	1.368000	0.46115	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_175866			53	52		153	152	1		1	1		0	0	20	0		1	9.999992e-01	0	25	0	41	0	53	153
DDR2	4921	broad.mit.edu	37	1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	425					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)			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)	GGCAGTTCTGGCAGAAAATGC	0.473																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1273-1275)tgG>tgA		discoidin domain receptor tyrosine kinase 2	Regorafenib(DB08896)						97.0	88.0	91.0					1																	162737131		2203	4300	6503	SO:0001587	stop_gained	4921	0	0					g.chr1:162737131G>A	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.1275G>A	chr1.hg19:g.162737131G>A	ENSP00000356899:p.Trp425*	1					DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	p.W425*	NM_001014796.1	NP_001014796.1	1	2	3	2.190011	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)	12	1713	+	all_hematologic(112;0.115)		Q7Z730	Nonsense_Mutation	SNP	ENST00000367922.3	0	1	hg19	c.1275G>A	CCDS1241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.272855|6.272855	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56963|.	0.2021|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50915|.	-0.8771|.	3|.	.|0.18276	.|T	.|0.48	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	18|425;425;35	.|.	.|ENSP00000356898:W425X	A|W	+|+	1|3	0|0	0|0	DDR2|DDR2	161003755|161003755	161003755|161003755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_006182			61	58		326	325	0		1	1		0	0	68	0		1	9.992069e-01	0	3	0	56	0	61	326
DDR2	4921	broad.mit.edu	37	1	162741822	162741822	+	Missense_Mutation	SNP	G	G	A	rs115169993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162741822G>A	ENST00000367922.3	+	14	1951	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	DDR2_ENST00000367921.3_Missense_Mutation_p.G505S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	505					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)			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)	AGGCTGCAGCGGTGTTGTGAA	0.567													G|||	14	0.00279553	0.0098	0.0	5008	,	,		18055	0.001		0.0	False		,,,				2504	0.0				NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994076	0.990000	1.000000																										0				7						c.(1513-1515)Ggt>Agt		discoidin domain receptor tyrosine kinase 2	Regorafenib(DB08896)	G	SER/GLY,SER/GLY	37,4369	39.2+/-71.8	0,37,2166	38.0	32.0	34.0		1513,1513	2.0	0.8	1	dbSNP_132	34	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DDR2	NM_001014796.1,NM_006182.2	56,56	0,38,6465	AA,AG,GG		0.0116,0.8398,0.2922	benign,benign	505/856,505/856	162741822	38,12968	2203	4300	6503	SO:0001583	missense	4921	100	121380	47				g.chr1:162741822G>A	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.1513G>A	chr1.hg19:g.162741822G>A	ENSP00000356899:p.Gly505Ser	1					DDR2_ENST00000367921.3_Missense_Mutation_p.G505S	p.G505S	NM_001014796.1	NP_001014796.1	1	2	3	2.190011	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)	14	1951	+	all_hematologic(112;0.115)		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	0	0	hg19	c.1513G>A	CCDS1241.1	1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	10.21|10.21	1.286147|1.286147	0.23478|0.23478	0.008398|0.008398	1.16E-4|1.16E-4	ENSG00000162733|ENSG00000162733	ENST00000367922;ENST00000367921|ENST00000433757	D;D|.	0.83335|.	-1.71;-1.71|.	5.27|5.27	1.98|1.98	0.26296|0.26296	5.27|5.27	1.98|1.98	0.26296|0.26296	.|.	0.433730|.	0.26907|.	N|.	0.021892|.	T|T	0.21550|0.21550	0.0519|0.0519	L|L	0.54323|0.54323	1.7|1.7	.|.	.|.	.|.	B|.	0.25850|.	0.136|.	B|.	0.19148|.	0.024|.	T|T	0.19418|0.19418	-1.0306|-1.0306	9|4	0.20046|.	T|.	0.44|.	.|.	2.398|2.398	0.04394|0.04394	0.1828:0.1446:0.5245:0.1481|0.1828:0.1446:0.5245:0.1481	.|.	505|.	Q16832|.	DDR2_HUMAN|.	S|Q	505|97	ENSP00000356899:G505S;ENSP00000356898:G505S|.	ENSP00000356898:G505S|.	G|R	+|+	1|2	0|0	0|0	DDR2|DDR2	161008446|161008446	161008446|161008446	0.608000|0.608000	0.26966|0.26966	0.759000|0.759000	0.31340|0.31340	0.151000|0.151000	0.21798|0.21798	0.821000|0.821000	0.27338|0.27338	1.132000|1.132000	0.42129|0.42129	0.655000|0.655000	0.94253|0.94253	GGT|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-4.039383	1	0.170000	NM_006182			12	12		84	80	1		1	1		0	0	17	0		9.991211e-01	9.969276e-01	0	3	0	71	0	12	84
CLCNKA	1187	broad.mit.edu	37	1	16351370	16351370	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000331433.4	+	4	361	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000375692.1_Silent_p.I114I|CLCNKA_ENST00000420078.1_Silent_p.I114I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	114					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602																																						ENST00000331433.4	0.900000	0.410000	8.000000e-01	5.200000e-01	0.650000	0.665701	0.650000	0.650000																										0				19						c.(340-342)atC>atA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						125.0	95.0	105.0					1																	16351370		2203	4300	6503	SO:0001819	synonymous_variant	1187	0	0					g.chr1:16351370C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.342C>A	chr1.hg19:g.16351370C>A		1					CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Silent_p.I114I|CLCNKA_ENST00000439316.2_Intron	p.I114I			0	0	0	1.821110	P51800	CLCKA_HUMAN		4	361	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	1	1	hg19	c.342C>A	CCDS167.1	0																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-19.997080	1	0.170000				19	19		282	278	0		1	0		0	0	60	0		9.999908e-01	4.529767e-03	0	0	0	2	0	19	282
CLCNKA	1187	broad.mit.edu	37	1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000331433.4	+	8	708	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P|CLCNKA_ENST00000375692.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	230					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647																																						ENST00000331433.4	0.940000	0.690000	9.200000e-01	7.700000e-01	0.850000	0.849759	0.850000	0.900000																										0				19						c.(688-690)cAc>cCc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95.0	97.0	97.0					1																	16353838		2203	4300	6503	SO:0001583	missense	1187	0	0					g.chr1:16353838A>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.689A>C	chr1.hg19:g.16353838A>C	ENSP00000332771:p.His230Pro	1					CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P	p.H230P			0	0	0	1.821110	P51800	CLCKA_HUMAN		8	708	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	1	1	hg19	c.689A>C	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578506	0.65878	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.02	3.02	0.34903	3.02	3.02	0.34903	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.80183	2.485	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95756	0.8796	10	0.72032	D	0.01	.	10.7799	0.46371	1.0:0.0:0.0:0.0	.	187;230;230	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	230;230;187;230	ENSP00000364844:H230P;ENSP00000410353:H230P;ENSP00000414445:H187P;ENSP00000332771:H230P	ENSP00000332771:H230P	H	+	2	0	0	CLCNKA	16226425	16226425	0.807000	0.29009	1.000000	0.80357	0.974000	0.67602	1.689000	0.37700	1.368000	0.46115	0.260000	0.18958	CAC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	0	0	1		17	2	2	1		1	1	176		176	172	1	2.060000	-17.630830	1	0.170000				73	71		789	770	0		1	0		1	0	176	0		1	0	0	0	0	1	0	73	789
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652																																						ENST00000358432.5	0.940000	0.570000	9.100000e-01	7.000000e-01	0.830000	0.816209	0.830000	0.930000																										0				42						c.(2668-2670)cgC>cgT		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)						30.0	30.0	30.0					1																	16456084		2203	4300	6503	SO:0001630	splice_region_variant	1969	0	0					g.chr1:16456084G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2670-1C>T	chr1.hg19:g.16456084G>A		1						p.R890R	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		16	2824	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	0	1	hg19	c.2670C>T	CCDS169.1	0																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	0	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-19.998860	1	0.170000	NM_004431	Silent		15	13		123	116	0		1	1		0	0	25	0		9.998378e-01	9.999951e-01	0	78	0	118	0	15	123
EPHA2	1969	broad.mit.edu	37	1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	560					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACGAACCTGCGGTGGATAAAG	0.607																																						ENST00000358432.5	1.000000	0.780000	9.400000e-01	8.500000e-01	0.900000	0.905577	0.900000	0.930000																										0				42						c.(1678-1680)Cgc>Tgc		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)						64.0	56.0	59.0					1																	16460967		2202	4300	6502	SO:0001583	missense	1969	3	121398	33				g.chr1:16460967G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1678C>T	chr1.hg19:g.16460967G>A	ENSP00000351209:p.Arg560Cys	1						p.R560C	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		8	1832	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	1	1	hg19	c.1678C>T	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249744	0.59212	.	.	ENSG00000142627	ENST00000358432	T	0.13538	2.58	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.167176	0.30118	N	0.010366	T	0.24470	0.0593	M	0.88241	2.94	0.54753	D	0.999983	D	0.56287	0.975	B	0.39876	0.312	T	0.31110	-0.9955	10	0.87932	D	0	.	15.0049	0.71504	0.0:0.0:1.0:0.0	.	560	P29317	EPHA2_HUMAN	C	560	ENSP00000351209:R560C	ENSP00000351209:R560C	R	-	1	0	0	EPHA2	16333554	16333554	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	1.174000	0.31932	2.604000	0.88044	0.650000	0.86243	CGC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-3.314797	1	0.170000	NM_004431			32	32		135	133	1		1	1		0	0	42	0		1	1	0	45	0	135	0	32	135
EPHA2	1969	broad.mit.edu	37	1	16461042	16461042	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	535					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATCACCGCCAAGTTGCCAGAT	0.592																																						ENST00000358432.5	1.000000	0.800000	9.400000e-01	8.600000e-01	0.910000	0.910569	0.910000	0.930000																										0				42						c.(1603-1605)Ttg>Ctg		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)						62.0	55.0	57.0					1																	16461042		2202	4300	6502	SO:0001819	synonymous_variant	1969	0	0					g.chr1:16461042A>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1603T>C	chr1.hg19:g.16461042A>G		1						p.L535L	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		8	1757	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	1	1	hg19	c.1603T>C	CCDS169.1	1																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	0		2	2	2	0		0	0	44		44	41	1	2.060000	-20.000000	1	0.170000	NM_004431			34	34		129	126	0		1	1		0	0	44	0		1	1	0	96	0	190	0	34	129
EPHA2	1969	broad.mit.edu	37	1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGAGGCTCCGAGTAGCGCAC	0.647																																						ENST00000358432.5	1.000000	0.760000	9.300000e-01	8.400000e-01	0.900000	0.896451	0.900000	0.930000																										0				42						c.(1156-1158)tCg>tTg		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	56.0	49.0	51.0		1157	5.0	1.0	1	dbSNP_134	51	0,8600		0,0,4300	no	missense	EPHA2	NM_004431.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	386/977	16464503	1,13005	2203	4300	6503	SO:0001583	missense	1969	1	121410	33				g.chr1:16464503G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1157C>T	chr1.hg19:g.16464503G>A	ENSP00000351209:p.Ser386Leu	1						p.S386L	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		5	1311	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	1	1	hg19	c.1157C>T	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194330	0.09599	2.27E-4	0.0	ENSG00000142627	ENST00000358432	T	0.58940	0.3	4.97	4.97	0.65823	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143571	0.32473	N	0.006045	T	0.46171	0.1379	L	0.37697	1.125	0.47441	D	0.999424	P;P	0.50819	0.939;0.699	B;B	0.39840	0.311;0.055	T	0.40136	-0.9579	10	0.20046	T	0.44	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	386;386	B5A968;P29317	.;EPHA2_HUMAN	L	386	ENSP00000351209:S386L	ENSP00000351209:S386L	S	-	2	0	0	EPHA2	16337090	16337090	0.985000	0.35326	0.959000	0.39883	0.015000	0.08874	2.177000	0.42509	2.488000	0.83962	0.561000	0.74099	TCG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	0		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_004431			28	28		131	129	1		1	1		0	0	35	0		1	1	0	69	0	122	0	28	131
EPHA2	1969	broad.mit.edu	37	1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	369	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACTCGGGCCAGCACTGTTCGC	0.677																																						ENST00000358432.5	1.000000	0.790000	9.400000e-01	8.600000e-01	0.900000	0.907288	0.900000	0.930000																										0				42						c.(1105-1107)tgC>tgA		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)						48.0	42.0	44.0					1																	16464553		2203	4300	6503	SO:0001587	stop_gained	1969	0	0					g.chr1:16464553G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1107C>A	chr1.hg19:g.16464553G>T	ENSP00000351209:p.Cys369*	1						p.C369*	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		5	1261	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	0	1	hg19	c.1107C>A	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.686181	0.96784	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.06	0.47325	4.97	4.06	0.47325	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7751	0.51981	0.0878:0.0:0.9122:0.0	.	.	.	.	X	369	.	ENSP00000351209:C369X	C	-	3	2	2	EPHA2	16337140	16337140	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.165000	0.50778	1.239000	0.43787	0.561000	0.74099	TGC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_004431			33	33		137	137	1		1	1		0	0	28	0		1	1	0	45	0	102	0	33	137
EPHA2	1969	broad.mit.edu	37	1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	84	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGTACACCCAGTTGGTGCGGA	0.542																																						ENST00000358432.5	1.000000	0.690000	9.300000e-01	7.900000e-01	0.870000	0.863611	0.870000	0.930000																										0				42						c.(250-252)aaC>aaA		EPH receptor A2	Dasatinib(DB01254)|Regorafenib(DB08896)						114.0	96.0	102.0					1																	16475444		2203	4300	6503	SO:0001583	missense	1969	0	0					g.chr1:16475444G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.252C>A	chr1.hg19:g.16475444G>T	ENSP00000351209:p.Asn84Lys	1					EPHA2_ENST00000461614.1_5'UTR	p.N84K	NM_004431.3	NP_004422.2	0	0	0	1.821110	P29317	EPHA2_HUMAN		3	406	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	1	1	hg19	c.252C>A	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787196	0.70337	.	.	ENSG00000142627	ENST00000358432	T	0.03524	3.9	5.35	5.35	0.76521	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000008	T	0.10723	0.0262	L	0.51422	1.61	0.50632	D	0.999885	D;D	0.76494	0.999;0.984	D;P	0.69479	0.964;0.698	T	0.14783	-1.0460	10	0.26408	T	0.33	.	10.0664	0.42306	0.0918:0.0:0.9082:0.0	.	84;84	B5A968;P29317	.;EPHA2_HUMAN	K	84	ENSP00000351209:N84K	ENSP00000351209:N84K	N	-	3	2	2	EPHA2	16348031	16348031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.382000	0.52463	2.503000	0.84419	0.561000	0.74099	AAC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_004431			37	37		328	322	1		1	1		0	0	107	0		1	9.999984e-01	0	103	0	79	0	37	328
C1orf110	339512	broad.mit.edu	37	1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463																																						ENST00000367910.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(643-645)Gct>Act		chromosome 1 open reading frame 110							189.0	173.0	178.0					1																	162824821		1953	4181	6134	SO:0001583	missense	339512	1	120888	32				g.chr1:162824821C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.643G>A	chr1.hg19:g.162824821C>T	ENSP00000356886:p.Ala215Thr	1					C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	p.A215T	NM_178550.4	NP_848645.3	1	2	3	2.190011	Q86UF4	CA110_HUMAN		4	763	-			Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	1	1	hg19	c.643G>A	CCDS44269.1	1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-0.526	0.11913	4.41	-0.526	0.11913	.	1.624330	0.03204	N	0.175223	T	0.10895	0.0266	N	0.19112	0.55	0.22888	N	0.998608	B	0.10296	0.003	B	0.10450	0.005	T	0.17228	-1.0376	8	0.30854	T	0.27	-0.394	7.2838	0.26326	0.0:0.5225:0.0:0.4775	.	215	Q86UF4	CA110_HUMAN	T	215	.	ENSP00000356886:A215T	A	-	1	0	0	C1orf110	161091445	161091445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.340000	0.02650	-0.025000	0.13918	-0.302000	0.09304	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000	NM_178550			82	78		473	469	1		1			0	0	107	0		1	0	0	0	0	0	0	82	473
PBX1	5087	broad.mit.edu	37	1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000420696.2	+	3	606	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000367897.1_Missense_Mutation_p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	140					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q23	1q23	5087	T	pre-B-cell leukemia transcription factor 1				"""L, M"""	L, M	TCF3, EWSR1		pre B-ALL, myoepithelioma	EWSR1/PBX1(3)	0				4						c.(418-420)Ggt>Tgt		pre-B-cell leukemia homeobox 1							24.0	30.0	28.0					1																	164761883		2203	4300	6503	SO:0001583	missense	5087	0	0					g.chr1:164761883G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.418G>T	chr1.hg19:g.164761883G>T	ENSP00000405890:p.Gly140Cys	1					PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C	p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	1	2	3	2.190011	P40424	PBX1_HUMAN		3	606	+			B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	1	1	hg19	c.418G>T	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460001	0.84317	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.89552	0.82;-2.43;-2.3;-2.44;-2.3;-2.53	5.23	5.23	0.72850	5.23	5.23	0.72850	PBX (1);	0.048778	0.85682	D	0.000000	D	0.89476	0.6726	L	0.46157	1.445	0.09310	N	1.0	P;P;P;P;P	0.48089	0.783;0.633;0.905;0.755;0.865	P;P;P;P;P	0.55667	0.684;0.726;0.605;0.726;0.781	D	0.89976	0.4097	9	0.54805	T	0.06	-8.2112	18.3959	0.90497	0.0:0.0:1.0:0.0	.	35;140;140;140;140	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	C	140;140;140;140;140;35	ENSP00000341455:G140C;ENSP00000405890:G140C;ENSP00000356872:G140C;ENSP00000439943:G140C;ENSP00000384856:G140C;ENSP00000440869:G35C	ENSP00000341455:G140C	G	+	1	0	0	PBX1	163028507	163028507	1.000000	0.71417	0.823000	0.32752	0.934000	0.57294	4.592000	0.61027	2.405000	0.81733	0.563000	0.77884	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000	NM_002585			86	85		210	205	0		1	0		0	0	42	1		1	9.889703e-01	0	1	0	19	0	86	210
PBX1	5087	broad.mit.edu	37	1	164781364	164781364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000420696.2	+	6	1163	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000367897.1_Silent_p.S325S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	325					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q23	1q23	5087	T	pre-B-cell leukemia transcription factor 1				"""L, M"""	L, M	TCF3, EWSR1		pre B-ALL, myoepithelioma	EWSR1/PBX1(3)	0				4						c.(973-975)tcG>tcA		pre-B-cell leukemia homeobox 1							105.0	83.0	91.0					1																	164781364		2203	4300	6503	SO:0001819	synonymous_variant	5087	0	0					g.chr1:164781364G>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.975G>A	chr1.hg19:g.164781364G>A		1					PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S220S	p.S325S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	1	2	3	2.190011	P40424	PBX1_HUMAN		6	1163	+			B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	1	1	hg19	c.975G>A	CCDS1246.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-4.558574	1	0.170000	NM_002585			72	70		230	223	1		1	0		0	0	52	0		1	9.999955e-01	0	0	0	61	0	72	230
PBX1	5087	broad.mit.edu	37	1	164789358	164789358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000420696.2	+	7	1235	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	349					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		1	1q23	1q23	5087	T	pre-B-cell leukemia transcription factor 1				"""L, M"""	L, M	TCF3, EWSR1		pre B-ALL, myoepithelioma	EWSR1/PBX1(3)	0				4						c.(1045-1047)agC>agT		pre-B-cell leukemia homeobox 1							93.0	92.0	92.0					1																	164789358		2203	4300	6503	SO:0001819	synonymous_variant	5087	3	121412	33				g.chr1:164789358C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1047C>T	chr1.hg19:g.164789358C>T		1					PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S244S	p.S349S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	1	2	3	2.190011	P40424	PBX1_HUMAN		7	1235	+			B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	1	1	hg19	c.1047C>T	CCDS1246.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-19.999930	1	0.170000	NM_002585			59	58		387	380	0		1	0		0	0	95	0		1	4.406922e-01	0	0	0	11	0	59	387
LMX1A	4009	broad.mit.edu	37	1	165173188	165173188	+	Missense_Mutation	SNP	G	G	A	rs553925894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165173188G>A	ENST00000342310.3	-	9	1460	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	360					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTGCAGAGGCCCAGCTTCT	0.517																																						ENST00000342310.3	0.520000	0.170000	4.200000e-01	2.400000e-01	0.320000	0.338275	0.320000	0.310000																										0				35						c.(1078-1080)Cct>Tct		LIM homeobox transcription factor 1, alpha							107.0	106.0	106.0					1																	165173188		2203	4300	6503	SO:0001583	missense	4009	0	0					g.chr1:165173188G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1078C>T	chr1.hg19:g.165173188G>A	ENSP00000340226:p.Pro360Ser	1					LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR	p.P360S	NM_177398.3	NP_796372.1	1	2	3	2.190011	Q8TE12	LMX1A_HUMAN		9	1460	-	all_hematologic(923;0.248)		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	0	1	hg19	c.1078C>T	CCDS1247.1	0	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445320	0.04604	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.85484	-1.99;-1.99;-1.99	5.14	4.23	0.50019	5.14	4.23	0.50019	.	0.226533	0.46758	D	0.000266	T	0.41236	0.1150	N	0.02539	-0.55	0.42593	D	0.993256	B	0.14438	0.01	B	0.09377	0.004	T	0.17258	-1.0375	9	0.13853	T	0.58	.	6.621	0.22802	0.1581:0.1485:0.6935:0.0	.	360	Q8TE12	LMX1A_HUMAN	S	360	ENSP00000340226:P360S;ENSP00000294816:P360S;ENSP00000356868:P360S	ENSP00000294816:P360S	P	-	1	0	0	LMX1A	163439812	163439812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.203000	0.58453	1.392000	0.46585	0.561000	0.74099	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-3.227160	1	0.170000	NM_177398			13	13		510	500	0		1			0	0	108	0		9.994798e-01	0	0	0	0	0	0	13	510
ARHGEF19	128272	broad.mit.edu	37	1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597																																						ENST00000270747.3	1.000000	0.710000	9.300000e-01	8.100000e-01	0.880000	0.880045	0.880000	0.930000																										0				12						c.(1843-1845)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 19							36.0	34.0	35.0					1																	16531318		2203	4300	6503	SO:0001583	missense	128272	0	0					g.chr1:16531318G>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1843C>A	chr1.hg19:g.16531318G>T	ENSP00000270747:p.Leu615Met	1					ARHGEF19_ENST00000478117.1_5'UTR	p.L615M	NM_153213.3	NP_694945.2	0	0	0	1.821110	Q8IW93	ARHGJ_HUMAN		12	1979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	1	1	hg19	c.1843C>A	CCDS170.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022609|2.022609	0.35701|0.35701	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.71817|.	-0.6|.	4.41|4.41	4.41|4.41	0.53225|0.53225	4.41|4.41	4.41|4.41	0.53225|0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.112646|.	0.40144|.	N|.	0.001174|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.38643|.	T|.	0.18|.	.|.	9.705|9.705	0.40209|0.40209	0.0:0.0:0.7929:0.2071|0.0:0.0:0.7929:0.2071	.|.	615|.	Q8IW93|.	ARHGJ_HUMAN|.	M|R	615|303	ENSP00000270747:L615M|.	ENSP00000270747:L615M|.	L|S	-|-	1|3	2|2	2|2	ARHGEF19|ARHGEF19	16403905|16403905	16403905|16403905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.105000|2.105000	0.41825|0.41825	2.272000|2.272000	0.75746|0.75746	0.561000|0.561000	0.74099|0.74099	CTG|AGC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_153213			18	18		67	66	1		1	1		0	0	27	0		9.999909e-01	9.999838e-01	0	37	0	42	0	18	67
ARHGEF19	128272	broad.mit.edu	37	1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	448	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642																																						ENST00000270747.3	1.000000	0.650000	9.300000e-01	7.700000e-01	0.870000	0.858708	0.870000	0.930000																										0				12						c.(1342-1344)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 19							36.0	34.0	34.0					1																	16532534		2202	4298	6500	SO:0001583	missense	128272	0	0					g.chr1:16532534C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1343G>A	chr1.hg19:g.16532534C>T	ENSP00000270747:p.Arg448His	1					ARHGEF19_ENST00000478117.1_5'UTR	p.R448H	NM_153213.3	NP_694945.2	0	0	0	1.821110	Q8IW93	ARHGJ_HUMAN		8	1479	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	0	1	hg19	c.1343G>A	CCDS170.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938587|1.938587	0.34189|0.34189	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.29397	.|1.57;1.57;2.32	4.66|4.66	4.66|4.66	0.58398|0.58398	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.14657|0.14657	0.0354|0.0354	N|N	0.11560|0.11560	0.145|0.145	0.41567|0.41567	D|D	0.988663|0.988663	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.12656|0.12656	-1.0539|-1.0539	5|10	.|0.15499	.|T	.|0.54	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|448	.|Q8IW93	.|ARHGJ_HUMAN	T|H	137|448;448;448;131	.|ENSP00000270747:R448H;ENSP00000396001:R448H;ENSP00000414370:R131H	.|ENSP00000270747:R448H	A|R	-|-	1|2	0|0	0|0	ARHGEF19|ARHGEF19	16405121|16405121	16405121|16405121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.166000|1.166000	0.31834|0.31834	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCT|CGC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-19.999980	1	0.170000	NM_153213			12	12		37	37	0		1	1		0	0	9	0		9.995177e-01	9.994492e-01	0	18	0	30	0	12	37
ARHGEF19	128272	broad.mit.edu	37	1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	240					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672																																						ENST00000270747.3	1.000000	0.880000	1	9.000000e-01	0.920000	0.940729	0.920000	0.930000																										0				12						c.(718-720)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 19							48.0	51.0	50.0					1																	16534248		2203	4298	6501	SO:0001583	missense	128272	0	0					g.chr1:16534248C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.719G>A	chr1.hg19:g.16534248C>T	ENSP00000270747:p.Arg240Gln	1					ARHGEF19_ENST00000478117.1_5'Flank	p.R240Q	NM_153213.3	NP_694945.2	0	0	0	1.821110	Q8IW93	ARHGJ_HUMAN		4	855	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	1	1	hg19	c.719G>A	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028362	0.54790	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.71222	-0.55;1.85	4.84	2.95	0.34219	4.84	2.95	0.34219	.	2.190520	0.02212	N	0.063299	T	0.61751	0.2372	L	0.47716	1.5	0.09310	N	1	P	0.38745	0.645	B	0.30251	0.113	T	0.48258	-0.9051	10	0.27082	T	0.32	.	7.6442	0.28311	0.0:0.7994:0.0:0.2006	.	240	Q8IW93	ARHGJ_HUMAN	Q	240	ENSP00000270747:R240Q;ENSP00000396001:R240Q	ENSP00000270747:R240Q	R	-	2	0	0	ARHGEF19	16406835	16406835	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.576000	0.36504	0.448000	0.26722	0.561000	0.74099	CGA	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	0	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.862980	1	0.170000	NM_153213			87	85		307	298	1		1	0		0	0	65	0		1	0	0	1	0	0	0	87	307
LMX1A	4009	broad.mit.edu	37	1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502																																						ENST00000342310.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(580-582)cGc>cAc		LIM homeobox transcription factor 1, alpha							243.0	219.0	227.0					1																	165182966		2203	4300	6503	SO:0001583	missense	4009	0	0					g.chr1:165182966C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.581G>A	chr1.hg19:g.165182966C>T	ENSP00000340226:p.Arg194His	1					LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|RP11-38C18.3_ENST00000441773.1_RNA|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'Flank	p.R194H	NM_177398.3	NP_796372.1	1	2	3	2.190011	Q8TE12	LMX1A_HUMAN		5	963	-	all_hematologic(923;0.248)		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	1	1	hg19	c.581G>A	CCDS1247.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.551736	0.96501	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95949	-3.86;-3.86;-3.86	5.64	5.64	0.86602	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.52011	1.625	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	D	0.96037	0.9021	9	0.46703	T	0.11	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	H	194	ENSP00000340226:R194H;ENSP00000294816:R194H;ENSP00000356868:R194H	ENSP00000294816:R194H	R	-	2	0	0	LMX1A	163449590	163449590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.284000	0.78650	2.637000	0.89404	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	1	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-20.000000	1	0.170000	NM_177398			280	275		816	802	1		1			0	0	175	0		1	0	0	0	0	0	0	280	816
LRRC52	440699	broad.mit.edu	37	1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	39	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502																																						ENST00000294818.1	1.000000	0.640000	1	7.400000e-01	0.860000	0.865131	0.860000	1.000000																										0				18						c.(115-117)tGc>tAc		leucine rich repeat containing 52							116.0	116.0	116.0					1																	165513649		2203	4300	6503	SO:0001583	missense	440699	0	0					g.chr1:165513649G>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.116G>A	chr1.hg19:g.165513649G>A	ENSP00000294818:p.Cys39Tyr	1					RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	p.C39Y	NM_001005214.3	NP_001005214.2	1	2	3	2.190011	Q8N7C0	LRC52_HUMAN		1	406	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	1	1	hg19	c.116G>A	CCDS30930.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995109	0.54041	.	.	ENSG00000162763	ENST00000294818	D	0.99985	-11.65	4.91	4.91	0.64330	4.91	4.91	0.64330	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95043	3.615	0.34146	D	0.667017	D	0.89917	1.0	D	0.97110	1.0	D	0.99976	1.2192	9	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	39	Q8N7C0	LRC52_HUMAN	Y	39	ENSP00000294818:C39Y	ENSP00000294818:C39Y	C	+	2	0	0	LRRC52	163780273	163780273	1.000000	0.71417	0.919000	0.36401	0.422000	0.31414	8.837000	0.92110	2.561000	0.86390	0.563000	0.77884	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	1	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-9.792615	1	0.170000	NM_001005214			46	46		633	619	0		1			0	0	104	0		1	0	0	0	0	0	0	46	633
ALDH9A1	223	broad.mit.edu	37	1	165634286	165634286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	Y_RNA_ENST00000384263.1_RNA|ALDH9A1_ENST00000538148.1_Silent_p.V383V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	453					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGGGCAACTCCACTGGGCTGA	0.458																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				21						c.(1429-1431)gtG>gtT		aldehyde dehydrogenase 9 family, member A1							114.0	96.0	102.0					1																	165634286		2203	4300	6503	SO:0001819	synonymous_variant	223	0	0					g.chr1:165634286C>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1431G>T	chr1.hg19:g.165634286C>A		1					Y_RNA_ENST00000384263.1_RNA|ALDH9A1_ENST00000538148.1_Silent_p.V383V	p.V477V	NM_000696.3	NP_000687.3	1	2	3	2.190011	P49189	AL9A1_HUMAN		10	1735	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	1	1	hg19	c.1431G>T	CCDS1250.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.076424	1	0.170000				42	41		270	266	1		1	1		0	0	47	0		1	1	0	57	0	277	0	42	270
TMCO1	54499	broad.mit.edu	37	1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000392129.6	-	6	583	c.433T>G	c.(433-435)Ttc>Gtc	p.F145V	TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	145						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398																																						ENST00000392129.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(433-435)Ttc>Gtc		transmembrane and coiled-coil domains 1							94.0	92.0	93.0					1																	165712439		2203	4300	6503	SO:0001583	missense	54499	0	0					g.chr1:165712439A>C	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.433T>G	chr1.hg19:g.165712439A>C	ENSP00000375975:p.Phe145Val	1					TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V|TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V	p.F145V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	1	2	3	2.190011	Q9UM00	TMCO1_HUMAN		6	583	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	1	1	hg19	c.433T>G		1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792056	0.90453	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.05	0.67936	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.93594	3.435	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82989	-0.0183	8	0.51188	T	0.08	.	10.3335	0.43837	0.9235:0.0:0.0765:0.0	.	133;145	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	145;126	.	ENSP00000356856:F145V	F	-	1	0	0	TMCO1	163979063	163979063	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.827000	0.92041	1.160000	0.42584	0.533000	0.62120	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_019026			63	60		289	282	1		1	1		0	0	69	0		1	1	0	151	0	443	0	63	289
FBXO42	54455	broad.mit.edu	37	1	16579592	16579592	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	307										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)		AATACTCACAGCATTGGGACC	0.433																																						ENST00000375592.3	0.940000	0.510000	9.100000e-01	6.600000e-01	0.810000	0.792873	0.810000	0.930000																										0				26						c.(919-921)gCt>gTt		F-box protein 42							63.0	56.0	58.0					1																	16579592		2203	4300	6503	SO:0001630	splice_region_variant	54455	0	0					g.chr1:16579592G>A	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.921+1C>T	chr1.hg19:g.16579592G>A		1						p.A307V	NM_018994.1	NP_061867.1	0	0	0	1.821110	Q6P3S6	FBX42_HUMAN		8	1136	-		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)	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Splice_Site	SNP	ENST00000375592.3	1	0	hg19	c.920C>T	CCDS30613.1	0	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.66280	-0.2;-0.16;-0.16	5.86	5.86	0.93980	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	B	0.27450	0.179	B	0.28638	0.092	T	0.53774	-0.8391	10	0.27785	T	0.31	-8.6863	19.1901	0.93663	0.0:0.0:1.0:0.0	.	307	Q6P3S6	FBX42_HUMAN	V	307;25;25	ENSP00000364742:A307V;ENSP00000415663:A25V;ENSP00000412416:A25V	ENSP00000364742:A307V	A	-	2	0	0	FBXO42	16452179	16452179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.176000	0.89686	2.776000	0.95493	0.655000	0.94253	GCT	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-17.508800	1	0.170000		Missense_Mutation		11	11		89	85	1		1	1		0	0	59	0		9.983001e-01	9.727093e-01	0	5	0	48	0	11	89
TMCO1	54499	broad.mit.edu	37	1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A	rs368923697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000392129.6	-	2	245	c.95G>T	c.(94-96)aGg>aTg	p.R32M	TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000464650.1_De_novo_Start_InFrame	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	32						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTGTCTGTCCTGTAAACCAG	0.373																																						ENST00000392129.6	1.000000	0.610000	1	7.600000e-01	0.930000	0.897866	0.930000	1.000000																										0				9						c.(94-96)aGg>aTg		transmembrane and coiled-coil domains 1							160.0	143.0	149.0					1																	165737482		2203	4300	6503	SO:0001583	missense	54499	0	0					g.chr1:165737482C>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.95G>T	chr1.hg19:g.165737482C>A	ENSP00000375975:p.Arg32Met	1					RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|TMCO1_ENST00000464650.1_De_novo_Start_InFrame	p.R32M	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	1	2	3	2.190011	Q9UM00	TMCO1_HUMAN		2	245	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	1	1	hg19	c.95G>T		1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.998946	0.93227	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.045571	0.85682	D	0.000000	D	0.84479	0.5481	M	0.92507	3.315	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87671	0.2541	8	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	20;32	B7Z591;Q9UM00	.;TMCO1_HUMAN	M	32	.	ENSP00000356856:R32M	R	-	2	0	0	TMCO1	164004106	164004106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.314000	0.72848	2.683000	0.91414	0.561000	0.74099	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-2.716744	1	0.170000	NM_019026			24	24		307	302	0		1	1		0	0	38	0		9.999997e-01	1	0	69	0	1016	0	24	307
FAM78B	149297	broad.mit.edu	37	1	166039799	166039800	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799_166039800GC>AT	ENST00000338353.3	-	3	1053_1054	c.464_465GC>AT	c.(463-465)aGC>aAT	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCAC	0.525																																						ENST00000338353.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(463-465)agC>agT|c.(463-465)aGc>aAc		family with sequence similarity 78, member B																																				SO:0001583	missense	149297	0	0					g.chr1:166039799G>A|g.chr1:166039800C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.464_465delinsAT	chr1.hg19:g.166039799_166039800delinsAT	ENSP00000339681:p.Ser155Asn	1					FAM78B_ENST00000354422.3_Silent_p.S155S|FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N	p.S155S|p.S155N			1	2	3	2.190011	Q5VT40	FA78B_HUMAN		3	1054|1053	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		B7Z693	Silent|Missense_Mutation	SNP	ENST00000338353.3	1	1	hg19	c.465C>T|c.464G>A	CCDS30931.1	1																									|5.84	|4.93	|0.64822																																												|0			|164306424														2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.525	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	1	0	1		2	2	2	0		0	0	136		139|136	139|136	1	2.060000	-20.000000	1	0.170000	NM_001017961			179|244	175|243		754|683	749|674	1		1	0		0	0	139|136	0		1	9.176690e-01|9.812253e-01	0	0|1	0	20|19	0	179	683
SLC35E2	9906	broad.mit.edu	37	1	1666219	1666219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1666219A>G	ENST00000246421.4	-	5	1057	c.642T>C	c.(640-642)ggT>ggC	p.G214G	RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000400924.1_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Silent_p.G214G|RP1-283E3.8_ENST00000598846.1_RNA	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	214						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGCAGCAGCACCACGTCCTG	0.547																																						ENST00000246421.4	0.890000	0.270000	7.400000e-01	4.000000e-01	0.550000	0.571915	0.550000	0.530000																										0				9						c.(640-642)ggT>ggC		solute carrier family 35, member E2							96.0	56.0	69.0					1																	1666219		2203	4300	6503	SO:0001819	synonymous_variant	9906	0	0					g.chr1:1666219A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.642T>C	chr1.hg19:g.1666219A>G		1					RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000355439.2_Silent_p.G214G|SLC35E2_ENST00000400924.1_Silent_p.G214G|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_5'UTR	p.G214G	NM_182838.2	NP_878258.1	0	1	1	1.838767	P0CK97	S35E2_HUMAN		5	1057	-	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;5.61e-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)	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Silent	SNP	ENST00000246421.4	0	1	hg19	c.642T>C	CCDS33.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	0	0	1		2	2	2	0		0	0	33		33	49	1	2.060000	-12.498450	1	0.170000	XM_049733			9	9		164	139	0		1	1		0	0	33	0		9.892106e-01	5.635053e-01	0	2	0	32	0	9	164
FBXO42	54455	broad.mit.edu	37	1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	24										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)		TCCATTGTCCCTTCCAGCACA	0.498																																						ENST00000375592.3	0.930000	0.520000	8.900000e-01	6.500000e-01	0.780000	0.777909	0.780000	0.860000																										0				26						c.(70-72)Ggg>Agg		F-box protein 42							111.0	92.0	99.0					1																	16641844		2203	4300	6503	SO:0001583	missense	54455	0	0					g.chr1:16641844C>T	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.70G>A	chr1.hg19:g.16641844C>T	ENSP00000364742:p.Gly24Arg	1					FBXO42_ENST00000478089.1_5'UTR	p.G24R	NM_018994.1	NP_061867.1	0	0	0	1.821110	Q6P3S6	FBX42_HUMAN		2	286	-		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)	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	1	1	hg19	c.70G>A	CCDS30613.1	0	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088870	0.76756	.	.	ENSG00000037637	ENST00000375592	T	0.05025	3.51	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.197049	0.45867	D	0.000332	T	0.15609	0.0376	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.66056	D	0.02	-15.7317	19.0543	0.93056	0.0:1.0:0.0:0.0	.	24	Q6P3S6	FBX42_HUMAN	R	24	ENSP00000364742:G24R	ENSP00000364742:G24R	G	-	1	0	0	FBXO42	16514431	16514431	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.622000	0.74233	2.739000	0.93911	0.563000	0.77884	GGG	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.879467	1	0.170000				19	19		208	204	0		1	1		0	0	58	0		9.999912e-01	9.817640e-01	0	3	0	71	0	19	208
FAM78B	149297	broad.mit.edu	37	1	166039940	166039940	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522																																						ENST00000338353.3	1.000000	0.800000	1	9.500000e-01	0.990000	0.979887	0.990000	1.000000																										0				19						c.(322-324)gaT>gaC		family with sequence similarity 78, member B							86.0	83.0	84.0					1																	166039940		2203	4300	6503	SO:0001819	synonymous_variant	149297	0	0					g.chr1:166039940A>G	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.324T>C	chr1.hg19:g.166039940A>G		1					FAM78B_ENST00000354422.3_Silent_p.D108D	p.D108D			1	2	3	2.190011	Q5VT40	FA78B_HUMAN		3	913	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		B7Z693	Silent	SNP	ENST00000338353.3	1	1	hg19	c.324T>C	CCDS30931.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001017961			34	34		350	343	0		1	0		0	0	63	0		1	3.983090e-01	0	0	0	15	0	34	350
POGK	57645	broad.mit.edu	37	1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	185					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(553-555)gAc>gGc		pogo transposable element with KRAB domain							84.0	74.0	77.0					1																	166818370		2203	4300	6503	SO:0001583	missense	57645	0	0					g.chr1:166818370A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.554A>G	chr1.hg19:g.166818370A>G	ENSP00000356849:p.Asp185Gly	1					POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G	p.D185G			1	2	3	2.190011	Q9P215	POGK_HUMAN		5	914	+			Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	1	1	hg19	c.554A>G	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342365	0.61073	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37752	1.25;1.18;4.21;4.56;4.56	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.128839	0.35040	N	0.003481	T	0.26521	0.0648	N	0.24115	0.695	0.31956	N	0.609032	D;D;D	0.71674	0.998;0.996;0.989	P;P;P	0.60886	0.88;0.762;0.762	T	0.08310	-1.0728	9	0.26408	T	0.33	-35.2945	11.7317	0.51741	1.0:0.0:0.0:0.0	.	67;100;185	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	67;100;185;185;185	ENSP00000442763:D67G;ENSP00000441187:D100G;ENSP00000404402:D185G;ENSP00000356850:D185G;ENSP00000356849:D185G	ENSP00000356849:D185G	D	+	2	0	0	POGK	165084994	165084994	0.903000	0.30736	0.095000	0.20976	0.917000	0.54804	3.892000	0.56235	2.263000	0.75096	0.533000	0.62120	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_017542			66	64		268	263	1		1	1		0	0	52	0		1	1	0	24	0	122	0	66	268
POGK	57645	broad.mit.edu	37	1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	414	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				22						c.(1240-1242)tAc>tGc		pogo transposable element with KRAB domain							75.0	68.0	70.0					1																	166819057		2203	4300	6503	SO:0001583	missense	57645	0	0					g.chr1:166819057A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1241A>G	chr1.hg19:g.166819057A>G	ENSP00000356849:p.Tyr414Cys	1					POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C	p.Y414C			1	2	3	2.190011	Q9P215	POGK_HUMAN		5	1601	+			Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	1	1	hg19	c.1241A>G	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500626	0.26861	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.5	4.36	0.52297	5.5	4.36	0.52297	.	0.000000	0.46145	D	0.000308	T	0.30947	0.0781	L	0.27053	0.805	0.40234	D	0.977881	P;D;D	0.65815	0.461;0.995;0.992	B;D;P	0.68039	0.343;0.955;0.75	T	0.21724	-1.0237	8	.	.	.	-29.3824	8.3146	0.32093	0.6828:0.0:0.0:0.3172	.	296;329;414	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	C	296;329;414;414	ENSP00000442763:Y296C;ENSP00000441187:Y329C;ENSP00000356850:Y414C;ENSP00000356849:Y414C	.	Y	+	2	0	0	POGK	165085681	165085681	0.999000	0.42202	0.879000	0.34478	0.341000	0.28922	2.486000	0.45259	1.079000	0.41038	0.533000	0.62120	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	1	0	1		2	2	2	0		0	0	53		53	54	1	2.060000	-20.000000	1	0.170000	NM_017542			38	38		232	228	1		1	1		0	0	53	0		1	9.999997e-01	0	38	0	108	0	38	232
TADA1	117143	broad.mit.edu	37	1	166839020	166839020	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166839020C>A	ENST00000367874.4	-	2	239	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	49					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGTGAGAAGTCTATGAGCTTC	0.363																																						ENST00000367874.4	0.660000	0.290000	5.600000e-01	3.700000e-01	0.460000	0.474027	0.460000	0.450000																										0				11						c.(145-147)aGa>aTa		transcriptional adaptor 1							133.0	136.0	135.0					1																	166839020		2203	4300	6503	SO:0001583	missense	117143	0	0					g.chr1:166839020C>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.146G>T	chr1.hg19:g.166839020C>A	ENSP00000356848:p.Arg49Ile	1						p.R49I	NM_053053.3	NP_444281.1	1	2	3	2.190011	Q96BN2	TADA1_HUMAN		2	239	-			A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	1	1	hg19	c.146G>T	CCDS1255.1	0	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936183	0.92458	.	.	ENSG00000152382	ENST00000367874	T	0.50813	0.73	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.49126	1.545	0.47737	D	0.999500	D;D	0.76494	0.992;0.999	D;D	0.74348	0.939;0.983	T	0.59380	-0.7465	9	0.72032	D	0.01	-12.1412	17.1185	0.86695	0.0:1.0:0.0:0.0	.	49;49	A8K4J9;Q96BN2	.;TADA1_HUMAN	I	49	ENSP00000356848:R49I	ENSP00000356848:R49I	R	-	2	0	0	TADA1	165105644	165105644	0.992000	0.36948	0.970000	0.41538	0.994000	0.84299	7.013000	0.76373	2.707000	0.92482	0.655000	0.94253	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-3.668509	1	0.170000	NM_053053			23	22		618	609	0		1	1		0	0	116	0		9.999992e-01	5.625831e-01	0	4	0	47	0	23	618
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N381K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					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)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393																																						ENST00000367872.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1234-1236)aaC>aaA		maelstrom spermatogenic transposon silencer							148.0	145.0	146.0					1																	166991023		2203	4300	6503	SO:0001583	missense	84944	0	0					g.chr1:166991023C>A	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.1236C>A	chr1.hg19:g.166991023C>A	ENSP00000356846:p.Asn412Lys	1					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N381K	p.N412K	NM_032858.1	NP_116247.1	1	2	3	2.190011	Q96JY0	MAEL_HUMAN		12	1480	+			B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	1	1	hg19	c.1236C>A	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208493	0.39003	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.42131	0.98;0.99	5.04	2.98	0.34508	5.04	2.98	0.34508	.	0.554792	0.17543	N	0.170450	T	0.09686	0.0238	N	0.14661	0.345	0.25966	N	0.982561	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.12863	-1.0531	10	0.72032	D	0.01	.	4.6626	0.12650	0.2188:0.6689:0.0:0.1123	.	381;412	E9JVC3;Q96JY0	.;MAEL_HUMAN	K	412;381;134	ENSP00000356846:N412K;ENSP00000356844:N381K	ENSP00000356844:N381K	N	+	3	2	2	MAEL	165257647	165257647	0.053000	0.20554	0.952000	0.39060	0.996000	0.88848	0.045000	0.14013	1.306000	0.44926	0.655000	0.94253	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_032858			85	84		474	467	1		1	1		0	0	90	0		1	7.230390e-01	0	3	0	13	0	85	474
SLC35E2	9906	broad.mit.edu	37	1	1670364	1670364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	ENST00000246421.4	-	3	870	c.455T>C	c.(454-456)aTg>aCg	p.M152T	SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152T|RP1-283E3.8_ENST00000598846.1_RNA	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTTTACCTCATCAGACCCAC	0.473																																						ENST00000246421.4	1.000000	0.530000	9.600000e-01	6.900000e-01	0.850000	0.836134	0.850000	0.990000																										0				9						c.(454-456)aTg>aCg		solute carrier family 35, member E2							25.0	32.0	30.0					1																	1670364		2196	4294	6490	SO:0001583	missense	9906	3	120992	24				g.chr1:1670364A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.455T>C	chr1.hg19:g.1670364A>G	ENSP00000246421:p.Met152Thr	1					SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152T|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|RP1-283E3.8_ENST00000598846.1_RNA	p.M152T	NM_182838.2	NP_878258.1	0	1	1	1.838767	P0CK97	S35E2_HUMAN		3	870	-	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;5.61e-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)	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	0	1	hg19	c.455T>C	CCDS33.1	1	.	.	.	.	.	.	.	.	.	.	a	12.20	1.867997	0.32977	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.92348	-3.02;-3.02;-3.02	2.89	2.89	0.33648	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.110770	0.64402	U	0.000017	D	0.92169	0.7517	L	0.45352	1.415	0.30531	N	0.767464	D;D	0.63046	0.992;0.98	D;P	0.64687	0.928;0.795	D	0.87896	0.2687	10	0.28530	T	0.3	.	10.2092	0.43131	1.0:0.0:0.0:0.0	.	152;152	P0CK97;P0CK97-2	S35E2_HUMAN;.	T	152	ENSP00000347614:M152T;ENSP00000383714:M152T;ENSP00000246421:M152T	ENSP00000246421:M152T	M	-	2	0	0	SLC35E2	1660224	1660224	1.000000	0.71417	0.975000	0.42487	0.373000	0.29922	8.889000	0.92470	1.312000	0.45043	0.433000	0.28618	ATG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	0	0	1		2	2	2	0		0	0	18		18	31	1	2.060000	-17.768960	1	0.170000	XM_049733			10	7		75	51	0		1	0		0	0	18	0		9.848307e-01	4.668733e-02	0	0	0	3	0	10	75
GPA33	10223	broad.mit.edu	37	1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	rs146470813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	307						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612																																						ENST00000367868.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(919-921)aGg>aTg		glycoprotein A33 (transmembrane)							195.0	135.0	155.0					1																	167023611		2203	4300	6503	SO:0001583	missense	10223	0	0					g.chr1:167023611C>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.920G>T	chr1.hg19:g.167023611C>A	ENSP00000356842:p.Arg307Met	1					RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.R307M	NM_005814.1	NP_005805.1	1	2	3	2.190011	Q99795	GPA33_HUMAN		7	1263	-			Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	1	1	hg19	c.920G>T	CCDS1258.1	1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505824	0.44558	.	.	ENSG00000143167	ENST00000367868	T	0.77877	-1.13	3.49	2.44	0.29823	3.49	2.44	0.29823	.	0.451921	0.20846	N	0.084608	T	0.63558	0.2521	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.54944	-0.8217	10	0.48119	T	0.1	.	7.9319	0.29907	0.0:0.7445:0.2555:0.0	.	307	Q99795	GPA33_HUMAN	M	307	ENSP00000356842:R307M	ENSP00000356842:R307M	R	-	2	0	0	GPA33	165290235	165290235	0.000000	0.05858	0.013000	0.15412	0.070000	0.16714	-0.038000	0.12144	1.889000	0.54706	0.591000	0.81541	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-8.584953	1	0.170000	NM_005814			170	165		451	444	1		1	0		0	0	95	0		1	6.892268e-01	0	0	0	8	0	170	451
DUSP27	92235	broad.mit.edu	37	1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	186					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GGAGATCCAGTACCTGGGTGT	0.567																																						ENST00000361200.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.986683	0.990000	1.000000																										0				89						c.(556-558)Tac>Cac		dual specificity phosphatase 27 (putative)							132.0	117.0	122.0					1																	167088604		2203	4300	6503	SO:0001583	missense	92235	0	0					g.chr1:167088604T>C	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.556T>C	chr1.hg19:g.167088604T>C	ENSP00000354483:p.Tyr186His	1					DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H	p.Y186H			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		5	722	+			A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	1	1	hg19	c.556T>C	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801391	0.90538	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.63913	-0.07;-0.07;-0.07	5.18	5.18	0.71444	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	-24.5316	15.0182	0.71605	0.0:0.0:0.0:1.0	.	186	Q5VZP5	DUS27_HUMAN	H	186	ENSP00000354483:Y186H;ENSP00000271385:Y186H;ENSP00000404874:Y186H	ENSP00000271385:Y186H	Y	+	1	0	0	DUSP27	165355228	165355228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_001080426			28	28		268	256	1		1	0		0	0	65	0		1	0	0	0	0	1	0	28	268
DUSP27	92235	broad.mit.edu	37	1	167096291	167096291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000443333.1_Silent_p.Q641Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	641					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						AGGAGAGCCAGTCTATGGCAA	0.637																																						ENST00000361200.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				89						c.(1921-1923)caG>caA		dual specificity phosphatase 27 (putative)							41.0	37.0	38.0					1																	167096291		2203	4300	6503	SO:0001819	synonymous_variant	92235	0	0					g.chr1:167096291G>A	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.1923G>A	chr1.hg19:g.167096291G>A		1					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q|DUSP27_ENST00000271385.5_Silent_p.Q641Q	p.Q641Q			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		6	2089	+			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	1	1	hg19	c.1923G>A	CCDS30932.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_001080426			28	28		155	150	0		1	0		0	0	27	0		1	6.678987e-02	0	1	0	2	0	28	155
DUSP27	92235	broad.mit.edu	37	1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	905	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GTAATTCCCAGAAACCTGAAA	0.493																																						ENST00000361200.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(2713-2715)caG>caT		dual specificity phosphatase 27 (putative)							87.0	77.0	80.0					1																	167097083		2203	4300	6503	SO:0001583	missense	92235	0	0					g.chr1:167097083G>T	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.2715G>T	chr1.hg19:g.167097083G>T	ENSP00000354483:p.Gln905His	1					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H	p.Q905H			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		6	2881	+			A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	1	1	hg19	c.2715G>T	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589602	0.13812	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.25	-5.41	0.02648	5.25	-5.41	0.02648	.	1.287870	0.05395	N	0.539668	T	0.00906	0.0030	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.49570	-0.8926	10	0.41790	T	0.15	-6.6321	3.444	0.07474	0.1444:0.1986:0.4558:0.2012	.	905	Q5VZP5	DUS27_HUMAN	H	905	ENSP00000354483:Q905H;ENSP00000271385:Q905H;ENSP00000404874:Q905H	ENSP00000271385:Q905H	Q	+	3	2	2	DUSP27	165363707	165363707	0.001000	0.12720	0.965000	0.40720	0.765000	0.43378	-1.289000	0.02780	-0.532000	0.06332	-0.323000	0.08544	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	0	0	1		14	2	2	1		1	1	61		61	58	1	2.060000	-20.000000	1	0.170000	NM_001080426			54	53		188	182	1		1	1		1	0	61	0		1	4.062555e-01	0	5	0	1	0	54	188
DUSP27	92235	broad.mit.edu	37	1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A	rs199793061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	998	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						CGAGGCAAATGGCAACTCTGT	0.517																																						ENST00000361200.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(2992-2994)Ggc>Agc		dual specificity phosphatase 27 (putative)							84.0	79.0	81.0					1																	167097360		2203	4300	6503	SO:0001583	missense	92235	0	0					g.chr1:167097360G>A	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.2992G>A	chr1.hg19:g.167097360G>A	ENSP00000354483:p.Gly998Ser	1					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S	p.G998S			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		6	3158	+			A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	1	1	hg19	c.2992G>A	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838723	0.16891	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.42	4.51	0.55191	5.42	4.51	0.55191	.	0.123145	0.37136	N	0.002232	T	0.02012	0.0063	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.35251	-0.9796	10	0.51188	T	0.08	-31.6984	10.3833	0.44125	0.1494:0.0:0.8506:0.0	.	998	Q5VZP5	DUS27_HUMAN	S	998	ENSP00000354483:G998S;ENSP00000271385:G998S;ENSP00000404874:G998S	ENSP00000271385:G998S	G	+	1	0	0	DUSP27	165363984	165363984	0.996000	0.38824	0.089000	0.20774	0.416000	0.31233	3.441000	0.52893	1.284000	0.44531	0.643000	0.83706	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.017969	1	0.170000	NM_001080426			61	61		379	371	1		1	0		0	0	90	0		1	1.480260e-01	0	0	0	5	0	61	379
DUSP27	92235	broad.mit.edu	37	1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1111					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GAAGAAGGGAGGTTTGCATCT	0.512																																						ENST00000361200.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999690	0.990000	1.000000																										0				89						c.(3331-3333)aGg>aTg		dual specificity phosphatase 27 (putative)							46.0	42.0	43.0					1																	167097700		2203	4300	6503	SO:0001583	missense	92235	0	0					g.chr1:167097700G>T	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.3332G>T	chr1.hg19:g.167097700G>T	ENSP00000354483:p.Arg1111Met	1					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M	p.R1111M			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		6	3498	+			A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	1	1	hg19	c.3332G>T	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207181	0.58343	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.4	4.48	0.54585	5.4	4.48	0.54585	.	0.000000	0.56097	D	0.000027	T	0.08537	0.0212	M	0.65975	2.015	0.35471	D	0.7973	D	0.76494	0.999	P	0.61328	0.887	T	0.01018	-1.1479	10	0.87932	D	0	-38.0246	14.5027	0.67732	0.0719:0.0:0.9281:0.0	.	1111	Q5VZP5	DUS27_HUMAN	M	1111	ENSP00000354483:R1111M;ENSP00000271385:R1111M;ENSP00000404874:R1111M	ENSP00000271385:R1111M	R	+	2	0	0	DUSP27	165364324	165364324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.698000	0.37794	2.532000	0.85374	0.549000	0.68633	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_001080426			27	26		181	175	1		1	1		0	0	43	0		1	2.904360e-01	0	2	0	6	0	27	181
SPATA21	374955	broad.mit.edu	37	1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	249							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		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;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572																																						ENST00000335496.1	1.000000	0.730000	9.300000e-01	8.200000e-01	0.890000	0.885560	0.890000	0.930000																										0				19						c.(745-747)Ctc>Ttc		spermatogenesis associated 21							115.0	95.0	102.0					1																	16731528		2203	4300	6503	SO:0001583	missense	374955	0	0					g.chr1:16731528G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.745C>T	chr1.hg19:g.16731528G>A	ENSP00000335612:p.Leu249Phe	1					SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	p.L249F	NM_198546.1	NP_940948.1	0	0	0	1.821110	Q7Z572	SPT21_HUMAN		8	1227	-		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)	B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	1	1	hg19	c.745C>T	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825291	0.32237	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.78924	-1.22;-1.22	4.53	0.416	0.16416	4.53	0.416	0.16416	EF-hand-like domain (1);	0.307870	0.23506	N	0.047446	T	0.71643	0.3364	L	0.52573	1.65	0.19300	N	0.999976	D;D	0.54601	0.967;0.966	P;P	0.52758	0.584;0.708	T	0.60964	-0.7158	10	0.16420	T	0.52	-6.8806	3.7645	0.08617	0.3108:0.185:0.5042:0.0	.	226;249	F5GXP5;Q7Z572	.;SPT21_HUMAN	F	249;226	ENSP00000335612:L249F;ENSP00000440046:L226F	ENSP00000335612:L249F	L	-	1	0	0	SPATA21	16604115	16604115	0.512000	0.26186	0.849000	0.33467	0.290000	0.27261	0.186000	0.16978	0.226000	0.20979	0.313000	0.20887	CTC	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	0	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_198546			32	30		214	210	1		1			0	0	44	0		1	0	0	0	0	0	0	32	214
SPATA21	374955	broad.mit.edu	37	1	16731589	16731589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	228							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		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;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557																																						ENST00000335496.1	1.000000	0.720000	9.300000e-01	8.100000e-01	0.880000	0.880820	0.880000	0.930000																										0				19						c.(682-684)agC>agT		spermatogenesis associated 21							94.0	80.0	85.0					1																	16731589		2203	4300	6503	SO:0001819	synonymous_variant	374955	0	0					g.chr1:16731589G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.684C>T	chr1.hg19:g.16731589G>A		1					SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	p.S228S	NM_198546.1	NP_940948.1	0	0	0	1.821110	Q7Z572	SPT21_HUMAN		8	1166	-		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)	B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	1	1	hg19	c.684C>T	CCDS172.1	1																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_198546			34	31		251	243	1		1			0	0	49	0		1	0	0	0	0	0	0	34	251
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						TCCCAGTATCGGAGAAGCACT	0.512																																						ENST00000361200.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				89						c.(3361-3363)cGg>cAg		dual specificity phosphatase 27 (putative)							45.0	41.0	42.0					1																	167097730		2203	4300	6503	SO:0001583	missense	92235	3	121408	32				g.chr1:167097730G>A	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.3362G>A	chr1.hg19:g.167097730G>A	ENSP00000354483:p.Arg1121Gln	1					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q	p.R1121Q			1	2	3	2.190011	Q5VZP5	DUS27_HUMAN		6	3528	+			A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	1	1	hg19	c.3362G>A	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522319	0.27211	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04551	3.6;3.6;3.6	5.4	4.42	0.53409	5.4	4.42	0.53409	.	0.339926	0.22015	N	0.065807	T	0.02970	0.0088	M	0.65975	2.015	0.31764	N	0.632927	D	0.53462	0.96	B	0.39876	0.312	T	0.25779	-1.0122	10	0.87932	D	0	-10.1831	10.9711	0.47441	0.1692:0.0:0.8308:0.0	.	1121	Q5VZP5	DUS27_HUMAN	Q	1121	ENSP00000354483:R1121Q;ENSP00000271385:R1121Q;ENSP00000404874:R1121Q	ENSP00000271385:R1121Q	R	+	2	0	0	DUSP27	165364354	165364354	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.046000	0.57376	1.133000	0.42147	0.549000	0.68633	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001080426			32	29		192	184	1		1	0		0	0	49	0		1	2.155474e-01	0	1	0	5	0	32	192
POU2F1	5451	broad.mit.edu	37	1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000541643.3	+	15	1756	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A544T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	532					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602																																						ENST00000541643.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1594-1596)Gcc>Acc		POU class 2 homeobox 1							92.0	75.0	81.0					1																	167381303		2203	4300	6503	SO:0001583	missense	5451	1	121412	27				g.chr1:167381303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1594G>A	chr1.hg19:g.167381303G>A	ENSP00000441285:p.Ala532Thr	1					POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A544T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T	p.A532T			1	2	3	2.190011	P14859	PO2F1_HUMAN		15	1756	+			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	1	1	hg19	c.1594G>A		1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.12;0.12;0.12;0.12;0.12	5.5	4.59	0.56863	5.5	4.59	0.56863	.	1.244020	0.05323	N	0.527015	T	0.70422	0.3222	N	0.19112	0.55	0.34924	D	0.748716	B;B;B;B;B	0.21753	0.036;0.035;0.06;0.06;0.036	B;B;B;B;B	0.20184	0.008;0.013;0.019;0.028;0.008	T	0.46048	-0.9219	9	0.34782	T	0.22	.	14.5992	0.68427	0.0703:0.0:0.9297:0.0	.	492;532;544;530;532	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	555;492;530;532;532;544;440	ENSP00000356840:A555T;ENSP00000401217:A492T;ENSP00000356839:A530T;ENSP00000414660:A532T;ENSP00000441285:A532T;ENSP00000356836:A544T;ENSP00000415993:A440T	ENSP00000356836:A544T	A	+	1	0	0	POU2F1	165647927	165647927	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.738000	0.55067	1.453000	0.47775	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.999980	1	0.170000	NM_002697			50	48		273	256	1		1	1		0	0	56	0		1	7.892059e-01	0	4	0	14	0	50	273
CREG1	8804	broad.mit.edu	37	1	167517320	167517320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167517320C>T	ENST00000370509.4	-	2	418	c.393G>A	c.(391-393)caG>caA	p.Q131Q	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	131					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										AGAAGTTGGTCTGTGCCAAAG	0.398																																						ENST00000370509.4	0.420000	0.100000	3.200000e-01	1.600000e-01	0.230000	0.247434	0.230000	0.220000																										0										c.(391-393)caG>caA		cellular repressor of E1A-stimulated genes 1							156.0	142.0	146.0					1																	167517320		2203	4300	6503	SO:0001819	synonymous_variant	8804	0	0					g.chr1:167517320C>T	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"""cellular repressor of E1A-stimulated genes"""	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.393G>A	chr1.hg19:g.167517320C>T		1					CREG1_ENST00000466652.1_5'Flank	p.Q131Q	NM_003851.2	NP_003842.1	1	2	3	2.190011	O75629	CREG1_HUMAN		2	418	-			B2RDD4|Q8N9A3	Silent	SNP	ENST00000370509.4	0	1	hg19	c.393G>A	CCDS1262.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	0	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-4.404694	1	0.170000	NM_003851			8	8		451	446	0		1	1		0	0	81	0		9.890155e-01	9.949033e-01	0	12	0	531	0	8	451
NECAP2	55707	broad.mit.edu	37	1	16770133	16770133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000337132.5	+	2	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	33					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)		TTAGGGCTGCGGAGTGGCAGC	0.572																																						ENST00000337132.5	0.940000	0.570000	9.200000e-01	7.100000e-01	0.840000	0.822085	0.840000	0.930000																										0				9						c.(97-99)gcG>gcA		NECAP endocytosis associated 2							35.0	36.0	35.0					1																	16770133		2203	4300	6503	SO:0001819	synonymous_variant	55707	12	119472	40				g.chr1:16770133G>A	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.99G>A	chr1.hg19:g.16770133G>A		1					NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Silent_p.A33A	p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	0	0	0	1.821110	Q9NVZ3	NECP2_HUMAN		2	189	+		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)	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	0	1	hg19	c.99G>A	CCDS173.1	0																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-3.168124	1	0.170000	NM_018090			12	10		79	71	1		1	1		0	0	16	0		9.985602e-01	9.999983e-01	0	15	0	187	0	12	79
NECAP2	55707	broad.mit.edu	37	1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000337132.5	+	5	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	163					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)		GCTCAACATCGCAGTGAGTTC	0.532																																						ENST00000337132.5	1.000000	0.720000	9.300000e-01	8.200000e-01	0.890000	0.884791	0.890000	0.930000																										0				9						c.(487-489)Gca>Aca		NECAP endocytosis associated 2							66.0	50.0	56.0					1																	16775694		2203	4300	6503	SO:0001583	missense	55707	1	121378	27				g.chr1:16775694G>A	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.487G>A	chr1.hg19:g.16775694G>A	ENSP00000338746:p.Ala163Thr	1					NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	p.A163T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	0	0	0	1.821110	Q9NVZ3	NECP2_HUMAN		5	577	+		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)	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	1	1	hg19	c.487G>A	CCDS173.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.216824	0.95104	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.44482	0.92;1.51;0.92;0.92;0.92;0.92	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.047689	0.85682	D	0.000000	T	0.56232	0.1971	L	0.56769	1.78	0.51482	D	0.999926	D;D;D	0.63880	0.987;0.993;0.989	P;P;P	0.55871	0.748;0.786;0.773	T	0.53279	-0.8461	10	0.48119	T	0.1	-16.4034	17.6382	0.88129	0.0:0.0:1.0:0.0	.	137;163;163	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	T	163;102;137;163;163;163;163	ENSP00000338746:A163T;ENSP00000424509:A102T;ENSP00000407091:A137T;ENSP00000383925:A163T;ENSP00000391942:A163T;ENSP00000427620:A163T	ENSP00000263498:A163T	A	+	1	0	0	NECAP2	16648281	16648281	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.042000	0.93793	2.760000	0.94817	0.655000	0.94253	GCA	8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_018090			18	16		55	54	1		1	1		0	0	16	0		9.999897e-01	1	0	51	0	203	0	18	55
RCSD1	92241	broad.mit.edu	37	1	167663376	167663376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167663376C>T	ENST00000367854.3	+	5	642	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	104					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			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)					CTGCCTGGGGCCTCACCCAAG	0.532																																						ENST00000367854.3	0.530000	0.160000	4.300000e-01	2.200000e-01	0.310000	0.332499	0.310000	0.300000																										0				24						c.(310-312)gCc>gTc		RCSD domain containing 1							78.0	74.0	75.0					1																	167663376		2203	4300	6503	SO:0001583	missense	92241	0	0					g.chr1:167663376C>T	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.311C>T	chr1.hg19:g.167663376C>T	ENSP00000356828:p.Ala104Val	1					RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	p.A104V	NM_052862.3	NP_443094.3	1	2	3	2.190011	Q6JBY9	CPZIP_HUMAN		5	642	+	all_hematologic(923;0.215)		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	0	1	hg19	c.311C>T	CCDS1263.1	0	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856784	0.71834	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.59224	0.34;0.28	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.292176	0.32175	N	0.006477	T	0.59609	0.2206	L	0.55103	1.725	0.31994	N	0.6041909999999999	D;D	0.89917	0.959;1.0	P;D	0.83275	0.631;0.996	T	0.60850	-0.7181	9	0.33940	T	0.23	-20.1062	9.9718	0.41759	0.0:0.7871:0.1383:0.0745	.	74;104	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	104;80;74	ENSP00000356828:A104V;ENSP00000439409:A74V	ENSP00000355291:A80V	A	+	2	0	0	RCSD1	165930000	165930000	0.989000	0.36119	0.996000	0.52242	0.771000	0.43674	1.979000	0.40608	2.572000	0.86782	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.370373	1	0.170000	NM_052862			10	10		407	401	0		1	0		0	0	73	0		9.966874e-01	5.100172e-01	0	0	0	67	0	10	407
ADCY10	55811	broad.mit.edu	37	1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367851.4	-	33	4943	c.4759G>T	c.(4759-4761)Ggc>Tgc	p.G1587C	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1495C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1587					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACCCTGCCTGCTACAATT	0.373																																						ENST00000367851.4	0.780000	0.350000	6.700000e-01	4.400000e-01	0.540000	0.559956	0.540000	0.540000																										0				63						c.(4759-4761)Ggc>Tgc		adenylate cyclase 10 (soluble)							142.0	134.0	136.0					1																	167778989		2203	4300	6503	SO:0001583	missense	55811	0	0					g.chr1:167778989C>A	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.4759G>T	chr1.hg19:g.167778989C>A	ENSP00000356825:p.Gly1587Cys	1					ADCY10_ENST00000367848.1_Missense_Mutation_p.G1495C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C	p.G1587C	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		33	4943	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	1	1	hg19	c.4759G>T	CCDS1265.1	0	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251182	0.59212	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35048	1.33;1.33;1.33	5.54	2.62	0.31277	5.54	2.62	0.31277	.	0.354480	0.24542	N	0.037632	T	0.36853	0.0982	M	0.63428	1.95	0.36856	D	0.888131	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.36311	-0.9753	9	0.87932	D	0	-7.3277	8.1789	0.31298	0.0:0.7399:0.0:0.2601	.	1495;1587	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1434;1587;1495	ENSP00000441992:G1434C;ENSP00000356825:G1587C;ENSP00000356822:G1495C	ENSP00000356822:G1495C	G	-	1	0	0	ADCY10	166045613	166045613	0.036000	0.19791	0.018000	0.16275	0.173000	0.22820	1.456000	0.35201	0.702000	0.31825	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.290913	1	0.170000	NM_018417			22	22		497	487	0		1			0	0	84	0		9.999985e-01	0	0	0	0	0	0	22	497
ADCY10	55811	broad.mit.edu	37	1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367851.4	-	27	4029	c.3845T>A	c.(3844-3846)aTc>aAc	p.I1282N	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1190N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1282					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488																																						ENST00000367851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3844-3846)aTc>aAc		adenylate cyclase 10 (soluble)							205.0	196.0	199.0					1																	167793999		2203	4300	6503	SO:0001583	missense	55811	0	0					g.chr1:167793999A>T	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.3845T>A	chr1.hg19:g.167793999A>T	ENSP00000356825:p.Ile1282Asn	1					ADCY10_ENST00000367848.1_Missense_Mutation_p.I1190N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N	p.I1282N	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		27	4029	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	1	1	hg19	c.3845T>A	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812902	0.32053	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.31769	1.48;1.48;1.48	5.75	3.48	0.39840	5.75	3.48	0.39840	.	0.620825	0.15231	N	0.273386	T	0.13670	0.0331	L	0.47716	1.5	0.28843	N	0.896489	P;P	0.48503	0.911;0.855	B;B	0.42422	0.387;0.216	T	0.07177	-1.0786	9	0.66056	D	0.02	-10.1174	6.5536	0.22448	0.8182:0.0:0.1818:0.0	.	1190;1282	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1129;183;1282;1190	ENSP00000441992:I1129N;ENSP00000356825:I1282N;ENSP00000356822:I1190N	ENSP00000271426:I183N	I	-	2	0	0	ADCY10	166060623	166060623	0.016000	0.18221	0.052000	0.19188	0.540000	0.34992	1.456000	0.35201	1.021000	0.39600	0.533000	0.62120	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	0		2	2	2	0		0	0	183		183	182	1	2.060000	-20.000000	1	0.170000	NM_018417			159	154		775	756	1		1			0	0	183	0		1	0	0	0	0	0	0	159	775
ADCY10	55811	broad.mit.edu	37	1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	rs143185037	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367851.4	-	25	3672	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.R1071Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468																																						ENST00000367851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3487-3489)cGa>cAa		adenylate cyclase 10 (soluble)							275.0	281.0	279.0					1																	167802330		2203	4300	6503	SO:0001583	missense	55811	363	121412	60				g.chr1:167802330C>T	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.3488G>A	chr1.hg19:g.167802330C>T	ENSP00000356825:p.Arg1163Gln	1					ADCY10_ENST00000367848.1_Missense_Mutation_p.R1071Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q	p.R1163Q	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		25	3672	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	1	1	hg19	c.3488G>A	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191030	0.58017	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32988	1.43;1.44;1.44	5.48	2.62	0.31277	5.48	2.62	0.31277	.	0.571110	0.15709	N	0.248496	T	0.12646	0.0307	M	0.74258	2.255	0.24101	N	0.995879	P;B	0.36249	0.545;0.41	B;B	0.22386	0.039;0.017	T	0.03898	-1.0994	9	0.44086	T	0.13	-1.6966	8.0859	0.30771	0.0:0.7467:0.0:0.2533	.	1071;1163	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1010;64;1163;1071	ENSP00000441992:R1010Q;ENSP00000356825:R1163Q;ENSP00000356822:R1071Q	ENSP00000271426:R64Q	R	-	2	0	0	ADCY10	166068954	166068954	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	0.296000	0.19083	0.393000	0.25203	-0.131000	0.14894	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	1		20	2	2	1		1	1	273		273	271	1	2.060000	-20.000000	1	0.170000	NM_018417			406	395		1176	1150	1		1			1	0	273	0		1	0	0	0	0	0	0	406	1176
ADCY10	55811	broad.mit.edu	37	1	167847775	167847775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167847775C>A	ENST00000367851.4	-	12	1499	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	ADCY10_ENST00000367848.1_Missense_Mutation_p.A347S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	439					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAAAGTACGCTGGTAGGTTG	0.443																																						ENST00000367851.4	0.550000	0.170000	4.400000e-01	2.400000e-01	0.330000	0.347110	0.330000	0.330000																										0				63						c.(1315-1317)Gcg>Tcg		adenylate cyclase 10 (soluble)							98.0	94.0	96.0					1																	167847775		2203	4300	6503	SO:0001583	missense	55811	0	0					g.chr1:167847775C>A	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.1315G>T	chr1.hg19:g.167847775C>A	ENSP00000356825:p.Ala439Ser	1					ADCY10_ENST00000367848.1_Missense_Mutation_p.A347S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S	p.A439S	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		12	1499	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	0	1	hg19	c.1315G>T	CCDS1265.1	0	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319191	0.23994	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30714	1.52;1.55;1.52	5.38	-4.36	0.03645	5.38	-4.36	0.03645	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.664905	0.14561	N	0.312051	T	0.02688	0.0081	N	0.11201	0.11	0.29437	N	0.8594269999999999	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.17979	0.02;0.006;0.003	T	0.39231	-0.9624	9	0.15066	T	0.55	-5.9662	0.2013	0.00145	0.2958:0.2374:0.2293:0.2376	.	286;347;439	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	286;439;347	ENSP00000441992:A286S;ENSP00000356825:A439S;ENSP00000356822:A347S	ENSP00000356822:A347S	A	-	1	0	0	ADCY10	166114399	166114399	0.325000	0.24660	0.978000	0.43139	0.881000	0.50899	-0.347000	0.07750	-0.424000	0.07382	-0.824000	0.03097	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	1		17	2	2	0		0	1	88		88	88	1	2.060000	-10.318920	1	0.170000	NM_018417			11	11		425	421	0		0			0	0	88	0		1.607694e-01	0	0	0	0	0	0	11	425
ADCY10	55811	broad.mit.edu	37	1	167863127	167863127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367851.4	-	8	976	c.792C>A	c.(790-792)tcC>tcA	p.S264S	ADCY10_ENST00000367848.1_Silent_p.S172S|ADCY10_ENST00000545172.1_Silent_p.S111S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	264					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468																																						ENST00000367851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(790-792)tcC>tcA		adenylate cyclase 10 (soluble)							78.0	69.0	72.0					1																	167863127		2203	4300	6503	SO:0001819	synonymous_variant	55811	0	0					g.chr1:167863127G>T	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.792C>A	chr1.hg19:g.167863127G>T		1					ADCY10_ENST00000367848.1_Silent_p.S172S|ADCY10_ENST00000545172.1_Silent_p.S111S	p.S264S	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		8	976	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	1	1	hg19	c.792C>A	CCDS1265.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.165076	1	0.170000	NM_018417			33	32		143	138	1		1			0	0	59	0		1	0	0	0	0	0	0	33	143
ADCY10	55811	broad.mit.edu	37	1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	41					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453																																						ENST00000367851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(121-123)gGa>gAa		adenylate cyclase 10 (soluble)							113.0	108.0	109.0					1																	167874257		2203	4300	6503	SO:0001583	missense	55811	0	0					g.chr1:167874257C>T	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.122G>A	chr1.hg19:g.167874257C>T	ENSP00000356825:p.Gly41Glu	1					ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000545172.1_Intron	p.G41E	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		2	306	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	1	1	hg19	c.122G>A	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471987	0.84533	.	.	ENSG00000143199	ENST00000367851	T	0.39406	1.08	5.57	5.57	0.84162	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000010	T	0.57021	0.2025	M	0.73962	2.25	0.34549	D	0.711135	D	0.89917	1.0	D	0.97110	1.0	T	0.58797	-0.7573	9	0.46703	T	0.11	-18.9717	15.0548	0.71904	0.0:1.0:0.0:0.0	.	41	Q96PN6	ADCYA_HUMAN	E	41	ENSP00000356825:G41E	ENSP00000356825:G41E	G	-	2	0	0	ADCY10	166140881	166140881	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	4.168000	0.58216	2.606000	0.88127	0.650000	0.86243	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-4.094919	1	0.170000	NM_018417			93	93		320	314	1		1			0	0	84	0		1	0	0	0	0	0	0	93	320
ADCY10	55811	broad.mit.edu	37	1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	2					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393																																						ENST00000367851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(4-6)aAc>aCc		adenylate cyclase 10 (soluble)							159.0	153.0	155.0					1																	167874374		2203	4300	6503	SO:0001583	missense	55811	0	0					g.chr1:167874374T>G	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.5A>C	chr1.hg19:g.167874374T>G	ENSP00000356825:p.Asn2Thr	1					ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000545172.1_Intron	p.N2T	NM_018417.4	NP_060887.2	1	2	3	2.190011	Q96PN6	ADCYA_HUMAN		2	189	-			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	1	1	hg19	c.5A>C	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788041	0.31593	.	.	ENSG00000143199	ENST00000367851	T	0.31769	1.48	5.05	-7.17	0.01511	5.05	-7.17	0.01511	.	0.665201	0.14367	N	0.324022	T	0.10637	0.0260	L	0.51422	1.61	0.23524	N	0.997491	B	0.31680	0.335	B	0.22386	0.039	T	0.00448	-1.1733	9	0.59425	D	0.04	-2.7767	16.0264	0.80548	0.0:0.7894:0.0:0.2106	.	2	Q96PN6	ADCYA_HUMAN	T	2	ENSP00000356825:N2T	ENSP00000356825:N2T	N	-	2	0	0	ADCY10	166140998	166140998	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.813000	0.01725	-1.422000	0.02004	-0.408000	0.06270	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_018417			118	114		412	405	1		1			0	0	82	0		1	0	0	0	0	0	0	118	412
DCAF6	55827	broad.mit.edu	37	1	167944232	167944232	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000312263.6	+	4	621	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000367840.3_Silent_p.C139C|DCAF6_ENST00000470919.1_3'UTR	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	139					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)			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						AATTTACGTGTCATTATGGAA	0.313																																						ENST00000312263.6	1.000000	0.830000	1	9.700000e-01	0.990000	0.984227	0.990000	1.000000																										0				36						c.(415-417)tgT>tgC		DDB1 and CUL4 associated factor 6							111.0	105.0	107.0					1																	167944232		2203	4300	6503	SO:0001819	synonymous_variant	55827	0	0					g.chr1:167944232T>C	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.417T>C	chr1.hg19:g.167944232T>C		1					DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Silent_p.C139C	p.C139C	NM_001017977.2	NP_001017977.1	1	2	3	2.190011	Q58WW2	DCAF6_HUMAN		4	621	+			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	1	1	hg19	c.417T>C	CCDS30933.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-12.329450	1	0.170000	NM_018442			40	39		409	402	0		1	1		0	0	78	0		1	9.991530e-01	0	9	0	101	0	40	409
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	72					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413																																						ENST00000367833.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A72V(1)	large_intestine(1)	6						c.(214-216)gCg>gTg		TOR signaling pathway regulator							129.0	117.0	121.0					1																	168153250		2203	4300	6503	SO:0001583	missense	261726	1	121412	29				g.chr1:168153250C>T	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.215C>T	chr1.hg19:g.168153250C>T	ENSP00000356807:p.Ala72Val	1					TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	p.A72V	NM_152902.3	NP_690866.1	1	2	3	2.190011	O75663	TIPRL_HUMAN		2	360	+	all_hematologic(923;0.215)		B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	1	1	hg19	c.215C>T	CCDS1270.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	0	TIPRL	166419874	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	1	0	1		17	9	2	1		1	1	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_152902			72	72		325	321	1		1	1		1	0	76	0		1	9.999922e-01	0	42	0	122	0	72	325
SFT2D2	375035	broad.mit.edu	37	1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368																																						ENST00000271375.4	1.000000	0.770000	1	8.500000e-01	0.940000	0.936452	0.940000	1.000000																										0				4						c.(361-363)aAc>aGc		SFT2 domain containing 2							241.0	237.0	238.0					1																	168205957		2203	4300	6503	SO:0001583	missense	375035	0	0					g.chr1:168205957A>G	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.362A>G	chr1.hg19:g.168205957A>G	ENSP00000271375:p.Asn121Ser	1					SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A	p.N121S	NM_199344.2	NP_955376.1	1	2	3	2.190011				6	434	+	all_hematologic(923;0.215)			Missense_Mutation	SNP	ENST00000271375.4	1	1	hg19	c.362A>G	CCDS1271.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.30|16.30	3.083832|3.083832	0.55861|0.55861	.|.	.|.	ENSG00000213064|ENSG00000213064	ENST00000271375|ENST00000367829;ENST00000367825	T|.	0.35789|.	1.29|.	5.18|5.18	4.04|4.04	0.47022|0.47022	5.18|5.18	4.04|4.04	0.47022|0.47022	.|.	0.168207|.	0.49916|.	U|.	0.000130|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.16166|0.16166	0.38|0.38	0.09310|.	N|.	0.999993|.	B|.	0.13594|.	0.008|.	B|.	0.18871|.	0.023|.	T|T	0.08638|0.08638	-1.0712|-1.0712	9|5	0.02654|0.56958	T|D	1|0.05	-8.6714|-8.6714	9.2735|9.2735	0.37686|0.37686	0.8392:0.0:0.0:0.1608|0.8392:0.0:0.0:0.1608	.|.	121|.	O95562|.	SFT2B_HUMAN|.	S|A	121|94	ENSP00000271375:N121S|.	ENSP00000271375:N121S|ENSP00000356799:T94A	N|T	+|+	2|1	0|0	0|0	SFT2D2|SFT2D2	166472581|166472581	166472581|166472581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.508000|5.508000	0.67006|0.67006	0.790000|0.790000	0.33803|0.33803	0.528000|0.528000	0.53228|0.53228	AAC|ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	1	0	1		2	2	2	0		0	0	184		184	183	1	2.060000	-17.964020	1	0.170000	NM_199344			96	94		1193	1166	0		1	1		0	0	184	0		1	7.970848e-01	0	2	0	37	0	96	1193
SFT2D2	375035	broad.mit.edu	37	1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458																																						ENST00000271375.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(466-468)Gcc>Acc		SFT2 domain containing 2							361.0	301.0	321.0					1																	168211761		2203	4300	6503	SO:0001583	missense	375035	0	0					g.chr1:168211761G>A	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.466G>A	chr1.hg19:g.168211761G>A	ENSP00000271375:p.Ala156Thr	1					SFT2D2_ENST00000367825.3_3'UTR	p.A156T	NM_199344.2	NP_955376.1	1	2	3	2.190011				8	538	+	all_hematologic(923;0.215)			Missense_Mutation	SNP	ENST00000271375.4	1	1	hg19	c.466G>A	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093188	0.20471	.	.	ENSG00000213064	ENST00000271375	T	0.42131	0.98	4.97	-3.81	0.04294	4.97	-3.81	0.04294	.	0.154571	0.43747	U	0.000539	T	0.03477	0.0100	N	0.01297	-0.9	0.29400	N	0.8620140000000001	B	0.02656	0.0	B	0.09377	0.004	T	0.36529	-0.9744	9	0.19590	T	0.45	-18.5149	7.1524	0.25618	0.6044:0.0:0.2632:0.1324	.	156	O95562	SFT2B_HUMAN	T	156	ENSP00000271375:A156T	ENSP00000271375:A156T	A	+	1	0	0	SFT2D2	166478385	166478385	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	-0.525000	0.06214	-0.719000	0.04942	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-20.000000	1	0.170000	NM_199344			147	145		741	732	1		1	1		0	0	123	0		1	9.999410e-01	0	15	0	56	0	147	741
TBX19	9095	broad.mit.edu	37	1	168260462	168260462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	90					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)			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)					GTACTCCCTCCTGCTGGACTT	0.552																																						ENST00000367821.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(268-270)Ctg>Ttg		T-box 19							134.0	120.0	125.0					1																	168260462		2203	4300	6503	SO:0001819	synonymous_variant	9095	0	0					g.chr1:168260462C>T	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.268C>T	chr1.hg19:g.168260462C>T		1						p.L90L	NM_005149.2	NP_005140.1	1	2	3	2.190011	O60806	TBX19_HUMAN		2	319	+	all_hematologic(923;0.215)		Q52M53	Silent	SNP	ENST00000367821.3	1	1	hg19	c.268C>T	CCDS1272.1	1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029415	0.19512	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	4.08	0.47627	4.99	4.08	0.47627	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.53041	-0.8494	3	.	.	.	.	13.3921	0.60830	0.0:0.9236:0.0:0.0764	.	.	.	.	L	22	.	.	P	+	2	0	0	TBX19	166527086	166527086	0.989000	0.36119	0.991000	0.47740	0.999000	0.98932	1.767000	0.38501	1.341000	0.45600	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	1	0	1		2	2	2	0		0	0	167		167	166	1	2.060000	-20.000000	1	0.170000	NM_005149			237	236		722	712	0		1	0		0	0	167	0		1	6.140072e-02	0	0	0	2	0	237	722
NBPF1	55672	broad.mit.edu	37	1	16892237	16892237	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16892237A>G	ENST00000430580.2	-	27	3842	c.2955T>C	c.(2953-2955)tgT>tgC	p.C985C		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		GAGTTGAATAACATCTATCCA	0.473																																						ENST00000430580.2	0.200000	0.120000	1.800000e-01	1.300000e-01	0.150000	0.164919	0.150000	0.160000																										0										c.(2953-2955)tgT>tgC		neuroblastoma breakpoint family, member 1							26.0	22.0	23.0					1																	16892237		1485	2604	4089	SO:0001819	synonymous_variant	55672	0	0					g.chr1:16892237A>G	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.2955T>C	chr1.hg19:g.16892237A>G		1						p.C985C	NM_017940.3	NP_060410.2	0	0	0	1.821110	Q3BBV0	NBPF1_HUMAN		27	3842	-			Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	0	1	hg19	c.2955T>C		0																																																																																								8.781185e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	0	0	0		2	2	2	0		0	1	1128		1128	1727	1	2.060000	-20.000000	1	0.170000	NM_017940			62	1		4015	103	0		0	0		0	0	1128	0		4.758169e-01	1.272808e-01	0	0	0	40	0	62	4015
DPT	1805	broad.mit.edu	37	1	168665811	168665811	+	Silent	SNP	G	G	A	rs12060879	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168665811G>A	ENST00000367817.3	-	4	671	c.582C>T	c.(580-582)taC>taT	p.Y194Y		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	194					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					ATTCACAGTCGTATTCAGTCA	0.463													G|||	170	0.0339457	0.1241	0.0072	5008	,	,		21913	0.0		0.001	False		,,,				2504	0.0					ENST00000367817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(580-582)taC>taT		dermatopontin		G		419,3987	206.8+/-228.3	26,367,1810	98.0	90.0	93.0		582	-3.4	0.6	1	dbSNP_120	93	4,8596	3.0+/-9.4	0,4,4296	yes	coding-synonymous	DPT	NM_001937.4		26,371,6106	AA,AG,GG		0.0465,9.5098,3.2523		194/202	168665811	423,12583	2203	4300	6503	SO:0001819	synonymous_variant	1805	1080	121406	61				g.chr1:168665811G>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.582C>T	chr1.hg19:g.168665811G>A		1						p.Y194Y	NM_001937.4	NP_001928.2	1	2	3	2.190011	Q07507	DERM_HUMAN		4	671	-	all_hematologic(923;0.208)		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	1	0	hg19	c.582C>T	CCDS1275.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-1.807761	0	0.170000	NM_001937			51	50		145	144	1		1	0		0	0	50	0		1	9.084509e-01	0	0	0	14	0	51	145
SLC19A2	10560	broad.mit.edu	37	1	169446393	169446393	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807G>A	c.(805-807)ccG>ccA	p.P269P	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	269					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTGAGCTTACCGGTTCCTCCA	0.468																																						ENST00000236137.5	0.580000	0.250000	4.900000e-01	3.200000e-01	0.400000	0.413277	0.400000	0.390000																										0				11						c.(805-807)ccG>ccA		solute carrier family 19 (thiamine transporter), member 2	Thiamine(DB00152)						86.0	92.0	90.0					1																	169446393		2202	4300	6502	SO:0001630	splice_region_variant	10560	2	121410	39				g.chr1:169446393C>T	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.807+1G>A	chr1.hg19:g.169446393C>T		1					SLC19A2_ENST00000367804.4_Intron	p.P269P	NM_006996.2	NP_008927.1	1	2	3	2.190011	O60779	S19A2_HUMAN		2	1043	-	all_hematologic(923;0.208)		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Splice_Site	SNP	ENST00000236137.5	0	1	hg19	c.807G>A	CCDS1280.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-2.469108	0	0.170000	NM_006996	Silent		23	23		713	705	0		1	0		0	0	105	0		9.999992e-01	5.748701e-01	0	0	0	60	0	23	713
F5	2153	broad.mit.edu	37	1	169511289	169511289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367797.3	-	13	3240	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	F5_ENST00000367796.3_Silent_p.Q1018Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1013	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)			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)	TTCCTCCATCCTGTCTTACTT	0.448																																						ENST00000367797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(3037-3039)caG>caA		coagulation factor V (proaccelerin, labile factor)	ART-123(DB05777)|Drotrecogin alfa(DB00055)						168.0	179.0	175.0					1																	169511289		2203	4300	6503	SO:0001819	synonymous_variant	2153	3	121412	40				g.chr1:169511289C>T	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.3039G>A	chr1.hg19:g.169511289C>T		1					F5_ENST00000367796.3_Silent_p.Q1018Q	p.Q1013Q	NM_000130.4	NP_000121	1	2	3	2.190011	P12259	FA5_HUMAN		13	3240	-	all_hematologic(923;0.208)		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	1	1	hg19	c.3039G>A	CCDS1281.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	1		2	2	2	0		0	0	193		193	193	1	2.060000	-20.000000	1	0.170000	NM_000130			324	322		1043	1028	1		1	1		0	0	193	0		1	7.253789e-01	0	2	0	8	0	324	1043
F5	2153	broad.mit.edu	37	1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367797.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000367796.3_Missense_Mutation_p.E358A|F5_ENST00000546081.1_Missense_Mutation_p.E221A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	358	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)			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)	CCAAATGACTTCCTCTGCAGC	0.448																																						ENST00000367797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(1072-1074)gAa>gCa		coagulation factor V (proaccelerin, labile factor)	ART-123(DB05777)|Drotrecogin alfa(DB00055)						221.0	200.0	207.0					1																	169524465		2203	4300	6503	SO:0001583	missense	2153	0	0					g.chr1:169524465T>G	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.1073A>C	chr1.hg19:g.169524465T>G	ENSP00000356771:p.Glu358Ala	1					F5_ENST00000367796.3_Missense_Mutation_p.E358A|F5_ENST00000546081.1_Missense_Mutation_p.E221A	p.E358A	NM_000130.4	NP_000121	1	2	3	2.190011	P12259	FA5_HUMAN		7	1274	-	all_hematologic(923;0.208)		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	1	1	hg19	c.1073A>C	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752544	0.89753	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99186	-5.53;-5.53;-5.53	5.6	5.6	0.85130	5.6	5.6	0.85130	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.91459	3.21	0.41728	D	0.989546	D	0.89917	1.0	D	0.74674	0.984	D	0.98686	1.0694	9	0.87932	D	0	-24.1444	15.8288	0.78736	0.0:0.0:0.0:1.0	.	358	P12259	FA5_HUMAN	A	358;358;221	ENSP00000356771:E358A;ENSP00000356770:E358A;ENSP00000439664:E221A	ENSP00000356770:E358A	E	-	2	0	0	F5	167791089	167791089	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.238000	0.78173	2.144000	0.66660	0.524000	0.50904	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	0		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_000130			120	118		559	548	1		1	0		0	0	109	0		1	8.390517e-02	0	0	0	3	0	120	559
F5	2153	broad.mit.edu	37	1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367797.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000367796.3_Missense_Mutation_p.T333N|F5_ENST00000546081.1_Missense_Mutation_p.T196N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					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)			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)	AAGATTCCTGGTTTTCTTTGG	0.413																																						ENST00000367797.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(997-999)aCc>aAc		coagulation factor V (proaccelerin, labile factor)	ART-123(DB05777)|Drotrecogin alfa(DB00055)						105.0	99.0	101.0					1																	169524540		2203	4300	6503	SO:0001583	missense	2153	0	0					g.chr1:169524540G>T	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.998C>A	chr1.hg19:g.169524540G>T	ENSP00000356771:p.Thr333Asn	1					F5_ENST00000367796.3_Missense_Mutation_p.T333N|F5_ENST00000546081.1_Missense_Mutation_p.T196N	p.T333N	NM_000130.4	NP_000121	1	2	3	2.190011	P12259	FA5_HUMAN		7	1199	-	all_hematologic(923;0.208)		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	1	1	hg19	c.998C>A	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295812	0.40594	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98849	-5.18;-5.18;-5.18	5.69	5.69	0.88448	5.69	5.69	0.88448	Cupredoxin (1);	0.496516	0.23023	N	0.052831	D	0.97309	0.9120	L	0.28274	0.84	0.30198	N	0.798902	D	0.89917	1.0	D	0.69307	0.963	D	0.96481	0.9356	9	0.36615	T	0.2	-20.7416	10.324	0.43783	0.1456:0.0:0.8544:0.0	.	333	P12259	FA5_HUMAN	N	333;333;196	ENSP00000356771:T333N;ENSP00000356770:T333N;ENSP00000439664:T196N	ENSP00000356770:T333N	T	-	2	0	0	F5	167791164	167791164	0.993000	0.37304	0.969000	0.41365	0.836000	0.47400	2.382000	0.44345	2.701000	0.92244	0.644000	0.83932	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	0		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_000130			106	105		281	277	1		1	1		0	0	66	0		1	7.512281e-01	0	5	0	4	0	106	281
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	rs199507095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4. {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)			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)	TCAGCACAGCGGAAGCTACAG	0.517																																						ENST00000263686.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1243-1245)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)						133.0	111.0	119.0					1																	169578832		2203	4300	6503	SO:0001583	missense	6403	24	121404	44				g.chr1:169578832G>A	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.1243C>T	chr1.hg19:g.169578832G>A	ENSP00000263686:p.Arg415Cys	1					SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C	p.R415C	NM_003005.3	NP_002996.2	1	2	3	2.190011	P16109	LYAM3_HUMAN		8	1280	-	all_hematologic(923;0.208)		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	1	1	hg19	c.1243C>T	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	0|0	SELP|SELP	167845456|167845456	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.823727	1	0.170000	NM_003005			46	45		245	244	1		1	0		0	0	70	0		1	6.756984e-01	0	0	0	14	0	46	245
SELP	6403	broad.mit.edu	37	1	169588378	169588378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	ENST00000263686.6	-	2	120	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	28					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)			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)	AGAGATCAGGGCACTGAAGCA	0.418																																						ENST00000263686.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999642	0.990000	1.000000																										0				60						c.(82-84)gCc>gTc		selectin P (granule membrane protein 140kDa, antigen CD62)	Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)						91.0	88.0	89.0					1																	169588378		2203	4300	6503	SO:0001583	missense	6403	0	0					g.chr1:169588378G>A	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.83C>T	chr1.hg19:g.169588378G>A	ENSP00000263686:p.Ala28Val	1					SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V	p.A28V	NM_003005.3	NP_002996.2	1	2	3	2.190011	P16109	LYAM3_HUMAN		2	120	-	all_hematologic(923;0.208)		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	0	1	hg19	c.83C>T	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664991	0.14710	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.25912	2.27;2.09;1.81;1.77;1.98;2.09;1.81	4.73	-1.6	0.08426	4.73	-1.6	0.08426	.	0.585628	0.15169	N	0.276744	T	0.05364	0.0142	L	0.37561	1.115	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.43861	-0.9365	10	0.17369	T	0.5	-2.8872	8.7545	0.34637	0.486:0.0:0.514:0.0	.	28;28	Q6NUL9;P16109	.;LYAM3_HUMAN	V	28;28;27;28;28;28;28;28;28;28;28;28;13	ENSP00000263686:A28V;ENSP00000356767:A28V;ENSP00000356768:A28V;ENSP00000356766:A28V;ENSP00000356765:A28V;ENSP00000356762:A28V;ENSP00000356760:A28V	ENSP00000263686:A28V	A	-	2	0	0	SELP	167855002	167855002	0.000000	0.05858	0.005000	0.12908	0.896000	0.52359	-1.463000	0.02361	-0.404000	0.07610	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	0	0	1		15	2	2	1		1	1	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_003005			25	24		165	162	0		1	0		1	0	41	0		9.606561e-01	3.989410e-01	0	0	0	10	0	25	165
SELE	6401	broad.mit.edu	37	1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367782.4_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367781.4_Missense_Mutation_p.A528V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	591					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)			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)	AACTTACCTGGCAGGAACAAA	0.328																																						ENST00000333360.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				32						c.(1771-1773)gCc>gTc		selectin E	Carvedilol(DB01136)						74.0	72.0	73.0					1																	169695051		2203	4300	6503	SO:0001583	missense	6401	0	0					g.chr1:169695051G>A	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.1772C>T	chr1.hg19:g.169695051G>A	ENSP00000331736:p.Ala591Val	1					SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V	p.A591V	NM_000450.2	NP_000441.2	1	2	3	2.190011	P16581	LYAM2_HUMAN		12	1911	-	all_hematologic(923;0.208)		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	0	1	hg19	c.1772C>T	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226299	0.39300	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21734	2.06;1.99;2.23;2.01;2.07;1.99;2.23;2.06;2.01	4.9	3.96	0.45880	4.9	3.96	0.45880	.	0.482787	0.15520	N	0.258107	T	0.08714	0.0216	M	0.68952	2.095	0.22684	N	0.998856	P	0.45126	0.851	B	0.33339	0.162	T	0.08229	-1.0732	10	0.41790	T	0.15	.	10.6767	0.45789	0.0:0.0:0.8087:0.1913	.	591	P16581	LYAM2_HUMAN	V	528;528;466;465;591;528;466;528;465	ENSP00000356755:A528V;ENSP00000356756:A528V;ENSP00000356754:A466V;ENSP00000356753:A465V;ENSP00000331736:A591V;ENSP00000356751:A528V;ENSP00000356749:A466V;ENSP00000356750:A528V;ENSP00000356748:A465V	ENSP00000331736:A591V	A	-	2	0	0	SELE	167961675	167961675	0.947000	0.32204	0.880000	0.34516	0.545000	0.35147	2.955000	0.49121	1.152000	0.42452	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	0	0	0		23	2	2	1		1	2	57		57	57	1	2.060000	-19.140590	1	0.170000	NM_000450			42	42		264	257	1		1	0		1	0	57	0		9.942918e-01	1.987980e-02	0	0	0	2	0	42	264
SELE	6401	broad.mit.edu	37	1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367782.4_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367781.4_Missense_Mutation_p.F525C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	588					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)			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)	GGCAGGAACAAATTTCTTTGC	0.323																																						ENST00000333360.7	0.620000	0.160000	4.900000e-01	2.400000e-01	0.350000	0.371419	0.350000	0.330000																										0				32						c.(1762-1764)tTt>tGt		selectin E	Carvedilol(DB01136)						70.0	70.0	70.0					1																	169695060		2203	4300	6503	SO:0001583	missense	6401	0	0					g.chr1:169695060A>C	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.1763T>G	chr1.hg19:g.169695060A>C	ENSP00000331736:p.Phe588Cys	1					SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C	p.F588C	NM_000450.2	NP_000441.2	1	2	3	2.190011	P16581	LYAM2_HUMAN		12	1902	-	all_hematologic(923;0.208)		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	1	1	hg19	c.1763T>G	CCDS1283.1	0	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795961	0.50208	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.1;2.03;2.24;2.04;2.07;2.03;2.24;2.1;2.04	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.206931	0.24539	N	0.037653	T	0.31857	0.0810	M	0.72894	2.215	0.35693	D	0.814992	D	0.76494	0.999	D	0.65573	0.936	T	0.25047	-1.0143	10	0.66056	D	0.02	-27.9936	11.5612	0.50778	1.0:0.0:0.0:0.0	.	588	P16581	LYAM2_HUMAN	C	525;525;463;462;588;525;463;525;462	ENSP00000356755:F525C;ENSP00000356756:F525C;ENSP00000356754:F463C;ENSP00000356753:F462C;ENSP00000331736:F588C;ENSP00000356751:F525C;ENSP00000356749:F463C;ENSP00000356750:F525C;ENSP00000356748:F462C	ENSP00000331736:F588C	F	-	2	0	0	SELE	167961684	167961684	1.000000	0.71417	0.986000	0.45419	0.487000	0.33371	5.264000	0.65513	2.050000	0.60909	0.528000	0.53228	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	0	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-9.049461	1	0.170000	NM_000450			8	8		296	290	0		1	0		0	0	57	0		9.887356e-01	9.580379e-04	0	0	0	2	0	8	296
C1orf112	55732	broad.mit.edu	37	1	169821053	169821053	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	780										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)					TGACTGTAGAAGAAGCAAAGA	0.423																																						ENST00000286031.6	0.960000	0.280000	7.600000e-01	4.000000e-01	0.560000	0.587761	0.560000	1.000000																										0				34						c.(2338-2340)gaA>gaG		chromosome 1 open reading frame 112							86.0	83.0	84.0					1																	169821053		2203	4300	6503	SO:0001819	synonymous_variant	55732	0	0					g.chr1:169821053A>G	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.2340A>G	chr1.hg19:g.169821053A>G		1					C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E	p.E780E	NM_018186.2	NP_060656.2	1	2	3	2.190011	Q9NSG2	CA112_HUMAN		23	3040	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	1	1	hg19	c.2340A>G	CCDS1285.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-11.398410	1	0.170000	NM_018186			9	9		202	196	0		1	0		0	0	44	0		9.937439e-01	4.337183e-01	0	0	0	32	0	9	202
SCYL3	57147	broad.mit.edu	37	1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367770.1	-	2	229	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.R61H|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H			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)			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)					GCAAGGGTGACGAAGTGTCTT	0.408																																						ENST00000367770.1	1.000000	0.620000	9.900000e-01	7.300000e-01	0.850000	0.856688	0.850000	1.000000																										0				27						c.(181-183)cGt>cAt		SCY1-like 3 (S. cerevisiae)							104.0	104.0	104.0					1																	169847944		2203	4300	6503	SO:0001583	missense	57147	0	0					g.chr1:169847944C>T	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.182G>A	chr1.hg19:g.169847944C>T	ENSP00000356744:p.Arg61His	1					SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.R61H|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H	p.R61H			1	2	3	2.190011	Q8IZE3	PACE1_HUMAN		2	229	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	1	1	hg19	c.182G>A	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.170462	0.94768	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.38	5.38	0.77491	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	0.0:1.0:0.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	H	61	ENSP00000356746:R61H;ENSP00000356745:R61H;ENSP00000356744:R61H;ENSP00000407993:R61H	.	R	-	2	0	0	SCYL3	168114568	168114568	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.338000	0.79269	2.668000	0.90789	0.563000	0.77884	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-9.122649	1	0.170000	NM_181093			42	42		585	569	0		1	1		0	0	104	0		1	8.214496e-01	0	6	0	40	0	42	585
KIFAP3	22920	broad.mit.edu	37	1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A	rs184581509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000361580.2	-	20	2544	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R733C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	773					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					ENST00000361580.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				35						c.(2317-2319)Cgc>Tgc		kinesin-associated protein 3							102.0	87.0	92.0					1																	169890879		2203	4300	6503	SO:0001583	missense	22920	25	121410	44				g.chr1:169890879G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2317C>T	chr1.hg19:g.169890879G>A	ENSP00000354560:p.Arg773Cys	1					KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R733C	p.R773C	NM_014970.3	NP_055785.2	1	2	3	2.190011	Q92845	KIFA3_HUMAN		20	2544	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	1	1	hg19	c.2317C>T	CCDS1288.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.609773	0.87258	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.51817	0.73;0.73;0.73;0.71;0.69	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.03840	-1.0999	9	.	.	.	-6.5391	17.8515	0.88748	0.0:0.0:1.0:0.0	.	773	Q92845	KIFA3_HUMAN	C	773;733;729;475;695	ENSP00000354560:R773C;ENSP00000356739:R733C;ENSP00000356741:R729C;ENSP00000442712:R475C;ENSP00000444622:R695C	.	R	-	1	0	0	KIFAP3	168157503	168157503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-15.503950	1	0.170000	NM_014970			29	28		171	169	1		1	1		0	0	47	0		1	9.999942e-01	0	23	0	94	0	29	171
KIFAP3	22920	broad.mit.edu	37	1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000361580.2	-	17	2175	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R610*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	650					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGACCTTTCGGATTTCATTA	0.313																																						ENST00000361580.2	1.000000	0.600000	1	9.400000e-01	0.990000	0.962095	0.990000	1.000000																										0				35						c.(1948-1950)Cga>Tga		kinesin-associated protein 3							57.0	56.0	56.0					1																	169941689		2198	4284	6482	SO:0001587	stop_gained	22920	0	0					g.chr1:169941689G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1948C>T	chr1.hg19:g.169941689G>A	ENSP00000354560:p.Arg650*	1					KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R610*	p.R650*	NM_014970.3	NP_055785.2	1	2	3	2.190011	Q92845	KIFA3_HUMAN		17	2175	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	0	1	hg19	c.1948C>T	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.162878	0.98683	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.22	2.1	0.27182	5.22	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5189	13.7898	0.63133	0.0:0.0:0.599:0.401	.	.	.	.	X	650;610;606;352;572	.	.	R	-	1	2	2	KIFAP3	168208313	168208313	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.632000	0.46511	0.212000	0.20703	0.555000	0.69702	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.162739	1	0.170000	NM_014970			6	6		50	50	1		1	0		0	0	27	0		9.678378e-01	9.870996e-01	0	1	0	72	0	6	50
KIFAP3	22920	broad.mit.edu	37	1	169951979	169951979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000361580.2	-	14	1763	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000367765.1_Silent_p.I472I|KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000538366.1_Silent_p.I434I	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	512					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313																																						ENST00000361580.2	1.000000	0.670000	1	8.500000e-01	0.990000	0.946648	0.990000	1.000000																										0				35						c.(1534-1536)atC>atT		kinesin-associated protein 3							64.0	62.0	63.0					1																	169951979		2203	4300	6503	SO:0001819	synonymous_variant	22920	0	0					g.chr1:169951979G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1536C>T	chr1.hg19:g.169951979G>A		1					KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000367765.1_Silent_p.I472I	p.I512I	NM_014970.3	NP_055785.2	1	2	3	2.190011	Q92845	KIFA3_HUMAN		14	1763	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	1	1	hg19	c.1536C>T	CCDS1288.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_014970			20	19		223	217	0		1	0		0	0	56	0		9.999949e-01	9.964147e-01	0	0	0	103	0	20	223
FMO3	2328	broad.mit.edu	37	1	171083225	171083225	+	Silent	SNP	C	C	T	rs2066536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000538429.1_Silent_p.N239N|FMO3_ENST00000542847.1_Silent_p.N282N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	302					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)			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)	TAAAGCCTAACGTGAAGGAAT	0.453																																						ENST00000367755.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(904-906)aaC>aaT		flavin containing monooxygenase 3	Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	C	,	2,4404	4.2+/-10.8	0,2,2201	139.0	122.0	128.0		906,906	-5.5	0.9	1	dbSNP_98	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	302/533,302/533	171083225	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2328	12	121404	44				g.chr1:171083225C>T	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.906C>T	chr1.hg19:g.171083225C>T		1					FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000538429.1_Silent_p.N239N	p.N302N	NM_001002294.2	NP_001002294.1	1	2	3	2.190011	P31513	FMO3_HUMAN		7	1017	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	1	1	hg19	c.906C>T	CCDS1292.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.222759	1	0.170000	NM_006894			94	91		265	261	1		1	0		0	0	60	0		1	1	0	0	0	179	0	94	265
FMO2	2327	broad.mit.edu	37	1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	rs144453751	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000209929.7	+	6	889	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	244					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)			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)					TCTATGCTCCGCAATGTACTG	0.473													G|||	5	0.000998403	0.0	0.0	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0051					ENST00000209929.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(730-732)cGc>cAc		flavin containing monooxygenase 2 (non-functional)		G	HIS/ARG	0,4406		0,0,2203	124.0	100.0	108.0		731	2.1	0.5	1	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO2	NM_001460.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	244/472	171173107	2,13004	2203	4300	6503	SO:0001583	missense	2327	54	121396	49				g.chr1:171173107G>A	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.731G>A	chr1.hg19:g.171173107G>A	ENSP00000209929:p.Arg244His	1					FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR	p.R244H			1	2	3	2.190011	P31512	FMO4_HUMAN		6	889	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	1	1	hg19	c.731G>A	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080127	0.36662	0.0	2.33E-4	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.55413	0.52;0.52	6.13	2.14	0.27477	6.13	2.14	0.27477	.	0.510314	0.20530	N	0.090523	T	0.49423	0.1556	M	0.69523	2.12	0.20196	N	0.999921	D	0.64830	0.994	D	0.66084	0.941	T	0.42378	-0.9455	10	0.30078	T	0.28	-4.5642	8.6367	0.33953	0.4608:0.0:0.5392:0.0	.	244	Q99518	FMO2_HUMAN	H	244	ENSP00000209929:R244H;ENSP00000405905:R244H	ENSP00000209929:R244H	R	+	2	0	0	FMO2	169439731	169439731	0.000000	0.05858	0.525000	0.27900	0.025000	0.11179	-0.123000	0.10611	0.151000	0.19162	-0.141000	0.14075	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.227166	1	0.170000	NM_001460			51	49		222	219	1		1	0		0	0	59	0		1	9.999990e-01	0	0	0	93	0	51	222
FMO2	2327	broad.mit.edu	37	1	171177942	171177942	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000209929.7	+	9	1424	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Silent_p.E422E|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	422					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)			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)					GGTTTGGAGAAAGCCAGAGCC	0.408																																						ENST00000209929.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1264-1266)gaA>gaG		flavin containing monooxygenase 2 (non-functional)							152.0	147.0	149.0					1																	171177942		2203	4300	6503	SO:0001819	synonymous_variant	2327	0	0					g.chr1:171177942A>G	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.1266A>G	chr1.hg19:g.171177942A>G		1					FMO2_ENST00000441535.1_Silent_p.E422E|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR	p.E422E			1	2	3	2.190011	P31512	FMO4_HUMAN		9	1424	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Q53XR0	Silent	SNP	ENST00000209929.7	1	1	hg19	c.1266A>G	CCDS1293.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	0	0	1		22	7	2	1		1	1	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_001460			120	118		650	634	1		1	0		1	0	110	0		1	9.999000e-01	0	0	0	136	0	120	650
FMO1	2326	broad.mit.edu	37	1	171248003	171248003	+	Missense_Mutation	SNP	C	C	T	rs146934200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171248003C>T	ENST00000354841.4	+	4	751	c.620C>T	c.(619-621)gCg>gTg	p.A207V	FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	207					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)			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)	AGCCACCTGGCGGAAAAGGTA	0.428																																						ENST00000354841.4	0.730000	0.190000	5.700000e-01	2.900000e-01	0.410000	0.436230	0.410000	0.390000																										0				27						c.(619-621)gCg>gTg		flavin containing monooxygenase 1	Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	C	VAL/ALA	0,4406		0,0,2203	58.0	58.0	58.0		620	5.3	0.4	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO1	NM_002021.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	207/533	171248003	2,13004	2203	4300	6503	SO:0001583	missense	2326	7	121392	37				g.chr1:171248003C>T	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.620C>T	chr1.hg19:g.171248003C>T	ENSP00000346901:p.Ala207Val	1					FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V	p.A207V	NM_001282692.1	NP_001269621.1	1	2	3	2.190011	Q01740	FMO1_HUMAN		4	751	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	0	1	hg19	c.620C>T	CCDS1294.1	0	.	.	.	.	.	.	.	.	.	.	C	38	6.696619	0.97772	0.0	2.33E-4	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.115098	0.56097	D	0.000024	T	0.81380	0.4810	M	0.91561	3.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.74348	0.983;0.745;0.97	D	0.84607	0.0676	10	0.62326	D	0.03	.	18.1935	0.89813	0.0:1.0:0.0:0.0	.	144;207;207	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	V	207;207;144;207	ENSP00000356724:A207V;ENSP00000406982:A207V;ENSP00000385543:A144V;ENSP00000346901:A207V	ENSP00000346901:A207V	A	+	2	0	0	FMO1	169514627	169514627	1.000000	0.71417	0.437000	0.26809	0.936000	0.57629	7.625000	0.83145	2.665000	0.90641	0.563000	0.77884	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-9.014056	1	0.170000	NM_002021			8	8		250	244	0		1	0		0	0	54	0		9.886390e-01	1.553281e-01	0	0	0	20	0	8	250
FMO4	2329	broad.mit.edu	37	1	171303754	171303754	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	344					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.L344L(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)					TTAAAAGCCTCTGTACAAAGA	0.378																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3	0.420000	0.130000	3.400000e-01	1.800000e-01	0.250000	0.265337	0.250000	0.240000																										1	Substitution - coding silent(1)	p.L344L(1)	large_intestine(1)	33						c.(1030-1032)ctC>ctA		flavin containing monooxygenase 4							84.0	89.0	88.0					1																	171303754		2203	4300	6503	SO:0001819	synonymous_variant	2329	0	0					g.chr1:171303754C>A	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.1032C>A	chr1.hg19:g.171303754C>A		1						p.L344L	NM_002022.1	NP_002013.1	1	2	3	2.190011	P31512	FMO4_HUMAN		8	1362	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		Q53XR0	Silent	SNP	ENST00000367749.3	0	1	hg19	c.1032C>A	CCDS1295.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	0	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-2.940861	1	0.170000	NM_002022			11	11		561	557	0		1	0		0	0	91	0		9.982913e-01	6.621231e-03	0	0	0	6	0	11	561
MYOC	4653	broad.mit.edu	37	1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T	rs201552559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	82			R -> C (in GLC1A).|R -> H.		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)			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)					CAGGTCTAAGCGTTGGGTGCT	0.582																																						ENST00000037502.6	1.000000	0.660000	1	7.900000e-01	0.930000	0.911757	0.930000	1.000000																										0				28						c.(244-246)cGc>cAc		myocilin, trabecular meshwork inducible glucocorticoid response							118.0	94.0	102.0					1																	171621507		2203	4300	6503	SO:0001583	missense	4653	58	121412	49				g.chr1:171621507C>T	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.245G>A	chr1.hg19:g.171621507C>T	ENSP00000037502:p.Arg82His	1						p.R82H	NM_000261.1	NP_000252.1	1	2	3	2.190011	Q99972	MYOC_HUMAN		1	316	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	1	1	hg19	c.245G>A	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270037	0.10349	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.57907	0.37	5.21	3.29	0.37713	5.21	3.29	0.37713	.	0.342434	0.30809	N	0.008833	T	0.19327	0.0464	L	0.37561	1.115	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.09862	-1.0655	10	0.37606	T	0.19	.	6.7439	0.23451	0.0:0.7854:0.0:0.2146	.	82	Q99972	MYOC_HUMAN	H	82;82;15;82	ENSP00000037502:R82H	ENSP00000037502:R82H	R	-	2	0	0	MYOC	169888130	169888130	0.011000	0.17503	0.625000	0.29200	0.159000	0.22180	-0.090000	0.11163	1.285000	0.44548	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-9.051879	1	0.170000	NM_000261			35	34		442	430	0		1			0	0	89	0		1	0	0	0	0	0	0	35	442
METTL13	51603	broad.mit.edu	37	1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000466643.1_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	453							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532																																						ENST00000361735.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1357-1359)gCg>gTg		methyltransferase like 13							98.0	93.0	95.0					1																	171759640		2203	4300	6503	SO:0001583	missense	51603	3	121408	37				g.chr1:171759640C>T	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.1358C>T	chr1.hg19:g.171759640C>T	ENSP00000354920:p.Ala453Val	1					METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000466643.1_Intron	p.A453V	NM_015935.4	NP_057019.3	1	2	3	2.190011	Q8N6R0	MET13_HUMAN		5	1624	+			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	1	1	hg19	c.1358C>T	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316117	0.10789	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.91	3.01	0.34805	5.91	3.01	0.34805	.	0.690282	0.15326	N	0.268278	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.18863	0.031;0.001;0.031	B;B;B	0.16289	0.01;0.003;0.015	T	0.47898	-0.9081	10	0.23302	T	0.38	-17.3518	6.4455	0.21873	0.0:0.6607:0.1314:0.2079	.	452;297;453	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	452;367;297;453	ENSP00000401955:A452V;ENSP00000355393:A367V;ENSP00000356711:A297V;ENSP00000354920:A453V	ENSP00000354920:A453V	A	+	2	0	0	METTL13	170026263	170026263	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.257000	0.18369	0.397000	0.25310	-0.122000	0.15005	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_014955			140	138		428	422	1		1	1		0	0	87	0		1	1	0	46	0	88	0	140	428
GNB1	2782	broad.mit.edu	37	1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	326					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572																																						ENST00000378609.4	1.000000	0.670000	9.600000e-01	7.700000e-01	0.880000	0.873833	0.880000	0.940000																										0				12						c.(976-978)Gct>Act		guanine nucleotide binding protein (G protein), beta polypeptide 1							115.0	101.0	106.0					1																	1718817		2203	4300	6503	SO:0001583	missense	2782	0	0					g.chr1:1718817C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.976G>A	chr1.hg19:g.1718817C>T	ENSP00000367872:p.Ala326Thr	1						p.A326T	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	0	1	1	1.838767	P62873	GBB1_HUMAN		11	1307	-	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;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	1	1	hg19	c.976G>A	CCDS34.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051123|6.051123	0.97236|0.97236	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.59224|.	0.28|.	5.74|5.74	5.74|5.74	0.90152|0.90152	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.100656|.	0.64402|.	D|.	0.000003|.	T|.	0.57169|.	0.2035|.	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|.	0.50056|.	-0.8872|.	10|.	0.31617|.	T|.	0.26|.	-16.5478|-16.5478	18.9108|18.9108	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	P62873|.	GBB1_HUMAN|.	T|X	326;226;326|183	ENSP00000367872:A326T|.	ENSP00000367869:A326T|.	A|W	-|-	1|3	0|0	0|0	GNB1|GNB1	1708677|1708677	1708677|1708677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.600000|7.600000	0.82769|0.82769	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	GCT|TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	0	0	1		14	30	2	1		1	1	119		119	119	1	2.060000	-12.133150	1	0.170000	NM_002074			40	39		409	405	1		1	1		1	0	119	0		9.999324e-01	1	0	145	0	1053	0	40	409
CROCC	9696	broad.mit.edu	37	1	17256517	17256517	+	Silent	SNP	G	G	A	rs529355496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17256517G>A	ENST00000375541.5	+	4	597	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCGGCTGCAGGGCAAGG	0.682													g|||	1	0.000199681	0.0	0.0	5008	,	,		23602	0.0		0.0	False		,,,				2504	0.001					ENST00000375541.5	1.000000	0.720000	1	9.900000e-01	0.990000	0.983101	0.990000	1.000000																										0				62						c.(526-528)ctG>ctA		ciliary rootlet coiled-coil, rootletin							12.0	13.0	13.0					1																	17256517		2190	4251	6441	SO:0001819	synonymous_variant	9696	4	119478	24				g.chr1:17256517G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.528G>A	chr1.hg19:g.17256517G>A		1					CROCC_ENST00000467938.1_3'UTR	p.L176L	NM_014675.3	NP_055490.3	0	6	6	1.935291				4	597	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		Silent	SNP	ENST00000375541.5	0	1	hg19	c.528G>A	CCDS30616.1	1																																																																																								3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-11.068310	1	0.170000	NM_014675			5	5		41	40	0		1	0		0	0	10	0		9.376658e-01	1.740340e-01	0	1	0	5	0	5	41
METTL13	51603	broad.mit.edu	37	1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A	rs199878964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	656							methyltransferase activity (GO:0008168)	p.P656L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552																																						ENST00000361735.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P656L(1)	large_intestine(1)	41						c.(1966-1968)cCt>cAt		methyltransferase like 13							117.0	110.0	113.0					1																	171765763		2203	4300	6503	SO:0001583	missense	51603	0	0					g.chr1:171765763C>A	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.1967C>A	chr1.hg19:g.171765763C>A	ENSP00000354920:p.Pro656His	1					METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000466643.1_3'UTR	p.P656H	NM_015935.4	NP_057019.3	1	2	3	2.190011	Q8N6R0	MET13_HUMAN		8	2233	+			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	1	1	hg19	c.1967C>A	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560058	0.65538	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.459579	0.26742	N	0.022725	T	0.80110	0.4563	L	0.36672	1.1	0.20764	N	0.999852	B;D;B	0.56287	0.054;0.975;0.198	B;P;B	0.58660	0.018;0.843;0.28	T	0.76408	-0.2970	10	0.87932	D	0	-0.688	19.635	0.95728	0.0:1.0:0.0:0.0	.	655;500;656	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	655;570;500;656;356;353	ENSP00000401955:P655H;ENSP00000355393:P570H;ENSP00000356711:P500H;ENSP00000354920:P656H;ENSP00000356710:P356H	ENSP00000341732:P353H	P	+	2	0	0	METTL13	170032386	170032386	0.034000	0.19679	0.412000	0.26496	0.966000	0.64601	3.279000	0.51670	2.733000	0.93635	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-4.554072	1	0.170000	NM_014955			143	142		460	449	1		1	1		0	0	99	0		1	1	0	57	0	84	0	143	460
CROCC	9696	broad.mit.edu	37	1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	rs145972878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.0		0.001	False		,,,				2504	0.0					ENST00000375541.5	0.970000	0.440000	8.700000e-01	5.700000e-01	0.710000	0.724185	0.710000	0.720000																										0				62						c.(3490-3492)cGt>cAt		ciliary rootlet coiled-coil, rootletin		G	HIS/ARG	0,4370		0,0,2185	22.0	26.0	24.0		3491	2.4	1.0	1	dbSNP_134	24	8,8572		0,8,4282	yes	missense	CROCC	NM_014675.3	29	0,8,6467	AA,AG,GG		0.0932,0.0,0.0618	benign	1164/2018	17281832	8,12942	2185	4290	6475	SO:0001583	missense	9696	85	121162	49				g.chr1:17281832G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3491G>A	chr1.hg19:g.17281832G>A	ENSP00000364691:p.Arg1164His	1						p.R1164H	NM_014675.3	NP_055490.3	0	1	1	1.828421				24	3560	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		Missense_Mutation	SNP	ENST00000375541.5	1	1	hg19	c.3491G>A	CCDS30616.1	0	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017534	0.19355	0.0	9.32E-4	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.54479	0.57	4.31	2.39	0.29439	4.31	2.39	0.29439	.	.	.	.	.	T	0.42810	0.1219	L	0.45137	1.4	0.28356	N	0.920651	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.40794	-0.9544	9	0.54805	T	0.06	.	8.2951	0.31980	0.2008:0.0:0.7992:0.0	.	467;1164	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1164;1045	ENSP00000364691:R1164H	ENSP00000364691:R1164H	R	+	2	0	0	CROCC	17154419	17154419	0.008000	0.16893	0.998000	0.56505	0.024000	0.10985	0.109000	0.15417	1.113000	0.41760	0.561000	0.74099	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-10.676590	1	0.170000	NM_014675			17	17		228	223	0		1	0		0	0	47	0		9.999646e-01	2.979640e-02	0	0	0	4	0	17	228
CROCC	9696	broad.mit.edu	37	1	17281989	17281989	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677																																						ENST00000375541.5	0.990000	0.320000	9.100000e-01	5.100000e-01	0.730000	0.716603	0.730000	0.840000																										0				62						c.(3646-3648)cgG>cgT		ciliary rootlet coiled-coil, rootletin							21.0	13.0	16.0					1																	17281989		2160	4259	6419	SO:0001819	synonymous_variant	9696	0	0					g.chr1:17281989G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3648G>T	chr1.hg19:g.17281989G>T		1						p.R1216R	NM_014675.3	NP_055490.3	0	1	1	1.828421				24	3717	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		Silent	SNP	ENST00000375541.5	0	1	hg19	c.3648G>T	CCDS30616.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-12.577140	1	0.170000	NM_014675			5	5		52	51	0		1	0		0	0	18	0		9.376066e-01	3.248124e-02	0	0	0	3	0	5	52
CROCC	9696	broad.mit.edu	37	1	17296826	17296826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17296826C>T	ENST00000375541.5	+	34	5599	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGCTGCTGCAGGAGCGCCT	0.687																																						ENST00000375541.5	0.980000	0.270000	9.000000e-01	4.600000e-01	0.690000	0.686214	0.690000	0.780000																										0				62						c.(5530-5532)Cag>Tag		ciliary rootlet coiled-coil, rootletin							5.0	5.0	5.0					1																	17296826		1889	3811	5700	SO:0001587	stop_gained	9696	1	115516	25				g.chr1:17296826C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5530C>T	chr1.hg19:g.17296826C>T	ENSP00000364691:p.Gln1844*	1						p.Q1844*	NM_014675.3	NP_055490.3	0	1	1	1.828421				34	5599	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		Nonsense_Mutation	SNP	ENST00000375541.5	0	1	hg19	c.5530C>T	CCDS30616.1	0	.	.	.	.	.	.	.	.	.	.	C	44	11.134003	0.99521	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.3426	0.83092	0.0:1.0:0.0:0.0	.	.	.	.	X	1844;1725	.	ENSP00000364691:Q1844X	Q	+	1	0	0	CROCC	17169413	17169413	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.884000	0.56175	2.546000	0.85860	0.655000	0.94253	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-9.660248	1	0.170000	NM_014675			4	4		44	44	0		1	0		0	0	10	0		8.932228e-01	7.803559e-01	0	1	0	32	0	4	44
FASLG	356	broad.mit.edu	37	1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|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 neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(637-639)Atg>Gtg		Fas ligand (TNF superfamily, member 6)							113.0	108.0	109.0					1																	172634947		2203	4300	6503	SO:0001583	missense	356	1	121412	31				g.chr1:172634947A>G	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.637A>G	chr1.hg19:g.172634947A>G	ENSP00000356694:p.Met213Val	1					FASLG_ENST00000340030.3_3'UTR	p.M213V	NM_000639.1	NP_000630.1	1	2	3	2.190011	P48023	TNFL6_HUMAN		4	821	+			Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	1	1	hg19	c.637A>G	CCDS1304.1	1	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055528	0.08291	.	.	ENSG00000117560	ENST00000367721	D	0.94330	-3.4	5.02	2.64	0.31445	5.02	2.64	0.31445	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.431289	0.26715	N	0.022880	T	0.71745	0.3376	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63752	-0.6566	10	0.35671	T	0.21	-5.2216	6.2711	0.20955	0.7791:0.0:0.0793:0.1416	.	213	P48023	TNFL6_HUMAN	V	213	ENSP00000356694:M213V	ENSP00000356694:M213V	M	+	1	0	0	FASLG	170901570	170901570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	1.143000	0.31553	0.333000	0.23563	-0.263000	0.10527	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000				88	88		500	491	1		1	0		0	0	96	0		1	2.860057e-01	0	0	0	7	0	88	500
MFAP2	4237	broad.mit.edu	37	1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T	rs372325611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	149					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTCCTACCTCGGAGGAGCTC	0.567																																						ENST00000375535.3	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.934497	0.940000	0.990000																										0				2						c.(445-447)cGa>cAa		microfibrillar-associated protein 2							96.0	74.0	81.0					1																	17301766		2203	4300	6503	SO:0001583	missense	4237	1	121410	36				g.chr1:17301766C>T	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.446G>A	chr1.hg19:g.17301766C>T	ENSP00000364685:p.Arg149Gln	1					MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q|MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR	p.R149Q			0	1	1	1.828421	P55001	MFAP2_HUMAN		8	735	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	1	1	hg19	c.446G>A	CCDS174.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956411	0.92726	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	L	0.59436	1.845	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.75935	-0.3142	9	0.49607	T	0.09	-26.3955	14.0767	0.64893	0.0:1.0:0.0:0.0	.	148;149	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	149;148;148	.	ENSP00000364684:R148Q	R	-	2	0	0	MFAP2	17174353	17174353	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.053000	0.57427	1.990000	0.58119	0.491000	0.48974	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_002403			27	26		158	153	1		1	1		0	0	39	0		1	1	0	4	0	666	0	27	158
TNFSF18	8995	broad.mit.edu	37	1	173010570	173010570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173010570C>A	ENST00000404377.3	-	3	537	c.537G>T	c.(535-537)caG>caT	p.Q179H	TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	179					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTAGAACCTGATGCTCAG	0.368																																						ENST00000404377.3	0.570000	0.180000	4.600000e-01	2.500000e-01	0.340000	0.359323	0.340000	0.330000																										0				9						c.(535-537)caG>caT		tumor necrosis factor (ligand) superfamily, member 18							128.0	123.0	125.0					1																	173010570		2203	4300	6503	SO:0001583	missense	8995	1	121400	30				g.chr1:173010570C>A	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.537G>T	chr1.hg19:g.173010570C>A	ENSP00000385470:p.Gln179His	1					RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H	p.Q179H	NM_005092.3	NP_005083.2	1	2	3	2.190011	Q9UNG2	TNF18_HUMAN		3	537	-			A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	0	1	hg19	c.537G>T	CCDS1305.2	0	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012705	0.19277	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.94417	-3.42;-3.42	5.45	-0.157	0.13387	5.45	-0.157	0.13387	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	0.333776	0.26072	N	0.026520	T	0.74703	0.3751	L	0.28274	0.84	0.09310	N	0.999996	B	0.31040	0.305	B	0.34652	0.187	T	0.68727	-0.5332	10	0.14656	T	0.56	-6.4029	0.9816	0.01437	0.3293:0.341:0.15:0.1798	.	179	Q9UNG2	TNF18_HUMAN	H	179;157	ENSP00000385470:Q179H;ENSP00000239468:Q157H	ENSP00000239468:Q157H	Q	-	3	2	2	TNFSF18	171277193	171277193	0.857000	0.29778	0.836000	0.33094	0.877000	0.50540	0.128000	0.15810	0.315000	0.23110	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.132573	1	0.170000	NM_005092			11	11		410	408	0		1	0		0	0	79	0		9.983366e-01	4.992597e-03	0	0	0	4	0	11	410
KLHL20	27252	broad.mit.edu	37	1	173722355	173722355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	254	BACK.				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)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999417	0.990000	1.000000																										0				34						c.(760-762)Ctg>Ttg		kelch-like family member 20							76.0	72.0	74.0					1																	173722355		2203	4300	6503	SO:0001819	synonymous_variant	27252	0	0					g.chr1:173722355C>T	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.760C>T	chr1.hg19:g.173722355C>T		1					KLHL20_ENST00000546011.1_Silent_p.L65L	p.L254L	NM_014458.3	NP_055273.2	1	2	3	2.190011	Q9Y2M5	KLH20_HUMAN		5	896	+			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	1	1	hg19	c.760C>T	CCDS1310.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_014458			25	24		172	170	1		1	1		0	0	32	0		9.999999e-01	9.984500e-01	0	14	0	59	0	25	172
KLHL20	27252	broad.mit.edu	37	1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	479					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)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1435-1437)cGt>cAt		kelch-like family member 20							73.0	69.0	70.0					1																	173744779		2203	4300	6503	SO:0001583	missense	27252	1	121412	26				g.chr1:173744779G>A	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.1436G>A	chr1.hg19:g.173744779G>A	ENSP00000209884:p.Arg479His	1					KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	p.R479H	NM_014458.3	NP_055273.2	1	2	3	2.190011	Q9Y2M5	KLH20_HUMAN		10	1572	+			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	1	1	hg19	c.1436G>A	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861815	0.32884	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81247	-1.47;-1.47	5.37	5.37	0.77165	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.96208	3.785	0.80722	D	1	P;P	0.41393	0.646;0.748	B;B	0.42138	0.303;0.377	D	0.85542	0.1216	10	0.15499	T	0.54	.	17.8879	0.88862	0.0:0.0:1.0:0.0	.	290;479	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	290;479	ENSP00000443121:R290H;ENSP00000209884:R479H	ENSP00000209884:R479H	R	+	2	0	0	KLHL20	172011402	172011402	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.296000	0.96104	2.524000	0.85096	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_014458			72	72		181	177	1		1	1		0	0	54	0		1	9.999975e-01	0	11	0	41	0	72	181
KLHL20	27252	broad.mit.edu	37	1	173744849	173744849	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	502					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)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1504-1506)tgT>tgC		kelch-like family member 20							110.0	103.0	106.0					1																	173744849		2203	4300	6503	SO:0001819	synonymous_variant	27252	0	0					g.chr1:173744849T>C	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.1506T>C	chr1.hg19:g.173744849T>C		1					KLHL20_ENST00000546011.1_Silent_p.C313C	p.C502C	NM_014458.3	NP_055273.2	1	2	3	2.190011	Q9Y2M5	KLH20_HUMAN		10	1642	+			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	1	1	hg19	c.1506T>C	CCDS1310.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	0		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_014458			67	66		368	364	0		1	1		0	0	100	0		1	9.992740e-01	0	12	0	49	0	67	368
CENPL	91687	broad.mit.edu	37	1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000345664.6	-	4	857	c.644C>T	c.(643-645)gCa>gTa	p.A215V	CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000356198.2_Missense_Mutation_p.A261V	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	215					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413																																						ENST00000345664.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(643-645)gCa>gTa		centromere protein L							113.0	119.0	117.0					1																	173772420		2203	4300	6503	SO:0001583	missense	91687	0	0					g.chr1:173772420G>A	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.644C>T	chr1.hg19:g.173772420G>A	ENSP00000323543:p.Ala215Val	1					CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000356198.2_Missense_Mutation_p.A261V	p.A215V	NM_001171182.1	NP_001164653.1	1	2	3	2.190011	Q8N0S6	CENPL_HUMAN		4	857	-			Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	1	1	hg19	c.644C>T	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856235	0.71834	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.48522	1.42;0.81;0.81	5.03	4.12	0.48240	5.03	4.12	0.48240	.	0.193605	0.45867	D	0.000323	T	0.38532	0.1044	L	0.36672	1.1	0.31499	N	0.665073	D;B	0.60575	0.988;0.004	P;B	0.58721	0.844;0.012	T	0.31475	-0.9942	10	0.45353	T	0.12	.	12.5652	0.56306	0.082:0.0:0.918:0.0	.	261;215	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	261;215;215	ENSP00000348527:A261V;ENSP00000323543:A215V;ENSP00000356683:A215V	ENSP00000323543:A215V	A	-	2	0	0	CENPL	172039043	172039043	1.000000	0.71417	0.826000	0.32828	0.989000	0.77384	6.614000	0.74197	1.124000	0.41980	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_033319			94	90		532	524	1		1	1		0	0	87	0		1	7.761034e-01	0	3	0	15	0	94	532
SERPINC1	462	broad.mit.edu	37	1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	325					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCTACCTTGGCCAGGCTCTTC	0.562																																						ENST00000367698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(973-975)Gcc>Acc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)						144.0	136.0	139.0					1																	173878870		2203	4300	6503	SO:0001583	missense	462	0	0					g.chr1:173878870C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.973G>A	chr1.hg19:g.173878870C>T	ENSP00000356671:p.Ala325Thr	1					SERPINC1_ENST00000494024.1_5'Flank	p.A325T	NM_000488.3	NP_000479.1	1	2	3	2.190011	P01008	ANT3_HUMAN		5	1091	-			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	1	1	hg19	c.973G>A	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023934	0.08006	.	.	ENSG00000117601	ENST00000367698	D	0.82711	-1.64	5.45	3.58	0.41010	5.45	3.58	0.41010	Serpin domain (3);	0.660844	0.16797	N	0.199144	T	0.60869	0.2302	L	0.48260	1.515	0.22873	N	0.998623	B	0.02656	0.0	B	0.04013	0.001	T	0.48969	-0.8987	10	0.24483	T	0.36	.	12.0354	0.53423	0.0:0.7947:0.0:0.2053	.	325	P01008	ANT3_HUMAN	T	325	ENSP00000356671:A325T	ENSP00000356671:A325T	A	-	1	0	0	SERPINC1	172145493	172145493	0.737000	0.28175	1.000000	0.80357	0.227000	0.25037	0.568000	0.23623	0.289000	0.22422	-0.797000	0.03246	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	1	0	1		2	2	2	0		0	0	141		141	138	1	2.060000	-20.000000	1	0.170000	NM_000488			120	120		665	652	1		1			0	0	141	0		1	0	0	0	0	0	0	120	665
SERPINC1	462	broad.mit.edu	37	1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva). {ECO:0000269|PubMed:2229057, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCGATAGAGTCGGCAGTTCAG	0.398																																						ENST00000367698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25	GRCh37	CM900039	SERPINC1	M	rs121909563	c.(481-483)cGa>cAa		serpin peptidase inhibitor, clade C (antithrombin), member 1	Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	219.0	199.0	206.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	482	5.7	1.0	1	dbSNP_133	206	0,8600		0,0,4300	no	missense	SERPINC1	NM_000488.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	161/465	173881079	1,13005	2203	4300	6503	SO:0001583	missense	462	0	0					g.chr1:173881079C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.482G>A	chr1.hg19:g.173881079C>T	ENSP00000356671:p.Arg161Gln	1					SERPINC1_ENST00000494024.1_5'Flank	p.R161Q	NM_000488.3	NP_000479.1	1	2	3	2.190011	P01008	ANT3_HUMAN		3	600	-			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	1	1	hg19	c.482G>A	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.253842	0.95336	2.27E-4	0.0	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84516	-1.86	5.66	5.66	0.87406	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.33093	0.98	0.80722	A	1	D	0.89917	1.0	D	0.67382	0.951	D	0.87179	0.2226	9	0.54805	T	0.06	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	161	P01008	ANT3_HUMAN	Q	161	ENSP00000356671:R161Q	ENSP00000307953:R161Q	R	-	2	0	0	SERPINC1	172147702	172147702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-3.221956	1	0.170000	NM_000488			116	111		659	651	1		1	0		0	0	123	0		1	0	0	0	0	1	0	116	659
RC3H1	149041	broad.mit.edu	37	1	173931058	173931058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000258349.4_Silent_p.H669H|RC3H1_ENST00000367694.2_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	669	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488																																						ENST00000367696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2005-2007)caC>caT		ring finger and CCCH-type domains 1							249.0	240.0	243.0					1																	173931058		2203	4300	6503	SO:0001819	synonymous_variant	149041	0	0					g.chr1:173931058G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2007C>T	chr1.hg19:g.173931058G>A		1					RC3H1_ENST00000258349.4_Silent_p.H669H|RC3H1_ENST00000367694.2_Silent_p.H669H	p.H669H			1	2	3	2.190011	Q5TC82	RC3H1_HUMAN		12	2358	-			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	1	1	hg19	c.2007C>T	CCDS30940.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_172071			221	215		571	561	1		1	1		0	0	138	0		1	9.867828e-01	0	5	0	15	0	221	571
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000375481.1_Silent_p.G345G|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000466151.1_5'Flank	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					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)			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)	TCCAGCGATCGCCTCGGTTTA	0.532																																						ENST00000375486.4	1.000000	0.820000	9.900000e-01	9.000000e-01	0.950000	0.950966	0.950000	0.990000																										0				29						c.(1033-1035)ggC>ggT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						117.0	112.0	114.0					1																	17410236		2203	4300	6503	SO:0001819	synonymous_variant	11240	5	121412	38				g.chr1:17410236G>A	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.1035C>T	chr1.hg19:g.17410236G>A		1					PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	p.G345G	NM_007365.2	NP_031391.2	0	1	1	1.828421	Q9Y2J8	PADI2_HUMAN		9	1098	-		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)	Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	1	1	hg19	c.1035C>T	CCDS177.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-19.577730	1	0.170000				50	50		352	345	1		1	0		0	0	97	0		1	9.595851e-01	0	1	0	38	0	50	352
RC3H1	149041	broad.mit.edu	37	1	173947683	173947683	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173947683T>G	ENST00000367696.2	-	7	1396	c.1045A>C	c.(1045-1047)Aac>Cac	p.N349H	RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H|RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	349					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGGTTCAAGTTTGCTGGGTCT	0.423																																						ENST00000367696.2	0.480000	0.130000	3.800000e-01	1.900000e-01	0.280000	0.295963	0.280000	0.270000																										0				50						c.(1045-1047)Aac>Cac		ring finger and CCCH-type domains 1							112.0	114.0	113.0					1																	173947683		2203	4300	6503	SO:0001583	missense	149041	0	0					g.chr1:173947683T>G	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1045A>C	chr1.hg19:g.173947683T>G	ENSP00000356669:p.Asn349His	1					RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H|RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H	p.N349H			1	2	3	2.190011	Q5TC82	RC3H1_HUMAN		7	1396	-			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	1	1	hg19	c.1045A>C	CCDS30940.1	0	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818545	0.90790	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.93859	-3.3;-3.3;-3.3	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.74023	0.96;0.96;0.982;0.952	D	0.95993	0.8987	10	0.72032	D	0.01	-15.3279	15.8908	0.79296	0.0:0.0:0.0:1.0	.	349;349;349;349	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	349	ENSP00000356669:N349H;ENSP00000258349:N349H;ENSP00000356667:N349H	ENSP00000258349:N349H	N	-	1	0	0	RC3H1	172214306	172214306	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.037000	0.88933	2.144000	0.66660	0.529000	0.55759	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-2.589260	1	0.170000	NM_172071			9	9		417	414	0		1	0		0	0	72	0		9.941415e-01	9.643233e-02	0	0	0	22	0	9	417
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373																																						ENST00000251507.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.E60*(1)	lung(1)	45						c.(178-180)Gaa>Aaa		RAB GTPase activating protein 1-like							141.0	142.0	142.0					1																	174190149		2203	4300	6503	SO:0001583	missense	9910	0	0					g.chr1:174190149G>A	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.178G>A	chr1.hg19:g.174190149G>A	ENSP00000251507:p.Glu60Lys	1					RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K|RABGAP1L_ENST00000367689.3_5'UTR	p.E60K	NM_014857.4	NP_055672.3	1	2	3	2.190011	B7ZAP0	RBG10_HUMAN		3	352	+			B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	1	1	hg19	c.178G>A	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418065	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.54675	0.56;3.39;0.82	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	T	0.65048	0.2654	M	0.68593	2.085	0.80722	D	1	D;P;P	0.54601	0.967;0.945;0.948	B;P;B	0.55508	0.427;0.777;0.443	T	0.60444	-0.7262	10	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	60;60;23	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	K	23;60;60;60	ENSP00000350027:E23K;ENSP00000251507:E60K;ENSP00000403136:E60K	ENSP00000251507:E60K	E	+	1	0	0	RABGAP1L	172456772	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_001243765			110	109		533	524	1		1	1		0	0	104	0		1	9.957369e-01	0	2	0	40	0	110	533
RABGAP1L	9910	broad.mit.edu	37	1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373																																						ENST00000251507.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(664-666)cAt>cGt		RAB GTPase activating protein 1-like							87.0	83.0	85.0					1																	174210743		2203	4300	6503	SO:0001583	missense	9910	0	0					g.chr1:174210743A>G	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.665A>G	chr1.hg19:g.174210743A>G	ENSP00000251507:p.His222Arg	1					RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R|RABGAP1L_ENST00000367689.3_5'UTR	p.H222R	NM_014857.4	NP_055672.3	1	2	3	2.190011	B7ZAP0	RBG10_HUMAN		5	839	+			B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	1	1	hg19	c.665A>G	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456919	0.26161	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.17370	2.28;2.28;2.28	5.41	2.66	0.31614	5.41	2.66	0.31614	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.279450	0.35739	N	0.003006	T	0.04452	0.0122	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.29579	-1.0007	10	0.26408	T	0.33	.	1.6768	0.02823	0.4307:0.3079:0.1118:0.1496	.	222;222;185	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	185;222;222;222	ENSP00000350027:H185R;ENSP00000251507:H222R;ENSP00000403136:H222R	ENSP00000251507:H222R	H	+	2	0	0	RABGAP1L	172477366	172477366	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.531000	0.53546	0.854000	0.35336	0.460000	0.39030	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001243765			79	77		254	249	1		1	1		0	0	69	0		1	9.999871e-01	0	19	0	37	0	79	254
RABGAP1L	9910	broad.mit.edu	37	1	174241551	174241551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000357444.6_Splice_Site|RABGAP1L_ENST00000367689.3_Splice_Site	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like											NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348																																						ENST00000251507.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.e8-1		RAB GTPase activating protein 1-like							149.0	142.0	144.0					1																	174241551		2203	4297	6500	SO:0001630	splice_region_variant	9910	0	0					g.chr1:174241551G>A	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.987-1G>A	chr1.hg19:g.174241551G>A		1					RABGAP1L_ENST00000357444.6_Splice_Site|RABGAP1L_ENST00000367689.3_Splice_Site		NM_014857.4	NP_055672.3	1	2	3	2.190011	B7ZAP0	RBG10_HUMAN		8	1160	+			B7ZAA4	Splice_Site	SNP	ENST00000251507.4	1	1	hg19		CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.092449	0.94149	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RABGAP1L	172508174	172508174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.700000	0.92200	0.563000	0.77884	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_001243765	Intron		82	82		408	404	1		1			0	0	89	0		1	0	0	0	0	0	0	82	408
RABGAP1L	9910	broad.mit.edu	37	1	174363157	174363157	+	Silent	SNP	G	G	A	rs567367046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000357444.6_Silent_p.P491P|RABGAP1L_ENST00000367689.3_Silent_p.P175P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19552	0.0		0.0	False		,,,				2504	0.001					ENST00000251507.4	1.000000	0.770000	1	8.900000e-01	0.990000	0.961142	0.990000	1.000000																										0				45						c.(1582-1584)ccG>ccA		RAB GTPase activating protein 1-like																																				SO:0001819	synonymous_variant	9910	10	121410	43				g.chr1:174363157G>A	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.1584G>A	chr1.hg19:g.174363157G>A		1					RABGAP1L_ENST00000357444.6_Silent_p.P491P|RABGAP1L_ENST00000367689.3_Silent_p.P175P	p.P528P	NM_014857.4	NP_055672.3	1	2	3	2.190011	B7ZAP0	RBG10_HUMAN		13	1758	+			B7ZAA4	Silent	SNP	ENST00000251507.4	1	1	hg19	c.1584G>A	CCDS1314.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-3.017764	1	0.170000	NM_001243765			49	48		561	553	0		1	0		0	0	106	0		1	9.298690e-01	0	0	0	53	0	49	561
CACYBP	27101	broad.mit.edu	37	1	174979110	174979110	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000367679.2	+	6	1030	c.582T>C	c.(580-582)gtT>gtC	p.V194V	CACYBP_ENST00000367681.2_Silent_p.V151V|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Silent_p.V151V	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	194	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)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403																																						ENST00000367679.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(580-582)gtT>gtC		calcyclin binding protein							71.0	72.0	72.0					1																	174979110		2203	4300	6503	SO:0001819	synonymous_variant	27101	0	0					g.chr1:174979110T>C	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.582T>C	chr1.hg19:g.174979110T>C		1					CACYBP_ENST00000405362.1_Silent_p.V151V|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Silent_p.V151V	p.V194V	NM_014412.2	NP_055227.1	1	2	3	2.190011	Q9HB71	CYBP_HUMAN		6	1030	+			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	ENST00000367679.2	1	1	hg19	c.582T>C	CCDS1315.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	1	0	1		2	2	2	0		0	0	46		46	48	1	2.060000	-20.000000	1	0.170000	NM_014412			96	93		237	235	1		1	1		0	0	46	0		1	1	0	164	0	256	0	96	237
TNN	63923	broad.mit.edu	37	1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	32					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)				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)		GGAGCCTCCCGGCTGCAGCAA	0.602																																						ENST00000239462.4	0.670000	0.260000	5.600000e-01	3.400000e-01	0.440000	0.457439	0.440000	0.430000																										0				156						c.(94-96)Ggc>Agc		tenascin N							63.0	55.0	58.0					1																	175046648		2203	4300	6503	SO:0001583	missense	63923	11	121410	42				g.chr1:175046648G>A	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.94G>A	chr1.hg19:g.175046648G>A	ENSP00000239462:p.Gly32Ser	1						p.G32S	NM_022093.1	NP_071376.1	1	2	3	2.190011	Q9UQP3	TENN_HUMAN		2	207	+		Breast(1374;0.000962)	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	1	1	hg19	c.94G>A	CCDS30943.1	0	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198149	0.06219	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23950	1.88	5.51	-0.53	0.11898	5.51	-0.53	0.11898	.	0.570052	0.18192	N	0.148793	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.033;0.139	B;B	0.12156	0.003;0.007	T	0.13791	-1.0496	10	0.48119	T	0.1	.	9.2488	0.37543	0.5862:0.0:0.4138:0.0	.	32;32	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	32	ENSP00000239462:G32S	ENSP00000239462:G32S	G	+	1	0	0	TNN	173313271	173313271	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.451000	0.21779	-0.193000	0.10415	-0.797000	0.03246	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	0	1		2	2	2	0		0	0	82		82	64	1	2.060000	-15.560150	1	0.170000	XM_040527			17	17		480	433	0		1	0		0	0	82	0		9.999223e-01	1.847294e-02	0	0	0	6	0	17	480
TNN	63923	broad.mit.edu	37	1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	168	EGF-like 1.				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)				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)		CGCCTGCGAGCGGCTGGCCTG	0.736																																						ENST00000239462.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				156						c.(502-504)Cgg>Tgg		tenascin N							5.0	7.0	6.0					1																	175048561		1883	3851	5734	SO:0001583	missense	63923	10	117206	32				g.chr1:175048561C>T	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.502C>T	chr1.hg19:g.175048561C>T	ENSP00000239462:p.Arg168Trp	1						p.R168W	NM_022093.1	NP_071376.1	1	2	3	2.190011	Q9UQP3	TENN_HUMAN		3	615	+		Breast(1374;0.000962)	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	1	1	hg19	c.502C>T	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357543	0.24598	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03358	3.96	4.46	3.53	0.40419	4.46	3.53	0.40419	.	1.169990	0.06082	N	0.661968	T	0.09113	0.0225	M	0.81802	2.56	0.09310	N	0.999998	D;B	0.60160	0.987;0.159	B;B	0.38712	0.28;0.02	T	0.48896	-0.8994	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.8483:0.1517:0.0	.	168;168	B3KXB6;Q9UQP3	.;TENN_HUMAN	W	168	ENSP00000239462:R168W	ENSP00000239462:R168W	R	+	1	2	2	TNN	173315184	173315184	0.004000	0.15560	0.423000	0.26634	0.069000	0.16628	1.331000	0.33793	0.948000	0.37687	0.491000	0.48974	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	1	0	1		2	2	2	0		0	0	12		12	9	1	2.060000	-20.000000	1	0.170000	XM_040527			28	28		68	65	0		1			0	0	12	0		1	0	0	0	0	0	0	28	68
TNN	63923	broad.mit.edu	37	1	175049459	175049459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	315	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				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)		AGCAGCACAGCTATGAGATTC	0.547																																						ENST00000239462.4	0.710000	0.270000	5.900000e-01	3.600000e-01	0.460000	0.482981	0.460000	0.450000																										0				156						c.(943-945)agC>agT		tenascin N							120.0	114.0	116.0					1																	175049459		2203	4300	6503	SO:0001819	synonymous_variant	63923	0	0					g.chr1:175049459C>T	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.945C>T	chr1.hg19:g.175049459C>T		1						p.S315S	NM_022093.1	NP_071376.1	1	2	3	2.190011	Q9UQP3	TENN_HUMAN		4	1058	+		Breast(1374;0.000962)	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	1	1	hg19	c.945C>T	CCDS30943.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-15.318260	1	0.170000	XM_040527			16	16		428	420	0		1	0		0	0	83	0		9.999242e-01	4.435253e-03	0	0	0	3	0	16	428
TNR	7143	broad.mit.edu	37	1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	TNR_ENST00000263525.2_Missense_Mutation_p.L1255I|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1255	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)				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)					CCTATGCGGAGTTTGTACAGG	0.602																																						ENST00000367674.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(3763-3765)Ctc>Atc		tenascin R							94.0	77.0	83.0					1																	175299240		2203	4300	6503	SO:0001583	missense	7143	0	0					g.chr1:175299240G>T	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.3763C>A	chr1.hg19:g.175299240G>T	ENSP00000356646:p.Leu1255Ile	1					TNR_ENST00000263525.2_Missense_Mutation_p.L1255I|RP3-518E13.2_ENST00000569593.1_RNA	p.L1255I			1	2	3	2.190011	Q92752	TENR_HUMAN		21	4471	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.3763C>A	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428684	0.43122	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82619	-1.63;-1.63	5.64	4.72	0.59763	5.64	4.72	0.59763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.070418	0.64402	N	0.000017	D	0.85805	0.5782	M	0.82517	2.595	0.54753	D	0.999987	B	0.11235	0.004	B	0.28232	0.087	D	0.83952	0.0317	10	0.62326	D	0.03	.	15.8324	0.78764	0.0:0.0:0.8634:0.1366	.	1255	Q92752	TENR_HUMAN	I	1255;1255;1165	ENSP00000356646:L1255I;ENSP00000263525:L1255I	ENSP00000263525:L1255I	L	-	1	0	0	TNR	173565863	173565863	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.105000	0.64591	1.354000	0.45846	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_003285			103	101		272	265	1		1	0		0	0	65	0		1	0	0	0	0	1	0	103	272
TNR	7143	broad.mit.edu	37	1	175304878	175304878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_ENST00000263525.2_Silent_p.G1200G|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1200	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)				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)					CGTTCCCGAAGCCAACACGGT	0.433																																						ENST00000367674.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(3598-3600)ggC>ggT		tenascin R							167.0	168.0	168.0					1																	175304878		2203	4300	6503	SO:0001819	synonymous_variant	7143	0	0					g.chr1:175304878G>A	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.3600C>T	chr1.hg19:g.175304878G>A		1					TNR_ENST00000263525.2_Silent_p.G1200G|RP3-518E13.2_ENST00000569593.1_RNA	p.G1200G			1	2	3	2.190011	Q92752	TENR_HUMAN		20	4308	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	1	1	hg19	c.3600C>T	CCDS1318.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	0		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_003285			109	109		580	564	1		1			0	0	129	0		1	0	0	0	0	0	0	109	580
TNR	7143	broad.mit.edu	37	1	175328762	175328762	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.2	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R			Q92752	TENR_HUMAN	tenascin R	987	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)				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)					AAAGTGTGTAAGAACAATGAC	0.507																																						ENST00000367674.2	0.570000	0.170000	4.500000e-01	2.400000e-01	0.330000	0.354312	0.330000	0.330000																										0				177						c.(2959-2961)cTt>cGt		tenascin R							131.0	114.0	120.0					1																	175328762		2203	4300	6503	SO:0001583	missense	7143	0	0					g.chr1:175328762A>C	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.2960T>G	chr1.hg19:g.175328762A>C	ENSP00000356646:p.Leu987Arg	1					TNR_ENST00000263525.2_Missense_Mutation_p.L987R	p.L987R			1	2	3	2.190011	Q92752	TENR_HUMAN		15	3668	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.2960T>G	CCDS1318.1	0	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496836	0.85069	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58358	0.34;0.34	5.7	5.7	0.88788	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150990	0.45361	D	0.000370	T	0.63546	0.2520	M	0.63428	1.95	0.58432	D	0.999997	P	0.45569	0.861	P	0.51918	0.684	T	0.66976	-0.5787	10	0.72032	D	0.01	.	15.6349	0.76944	1.0:0.0:0.0:0.0	.	987	Q92752	TENR_HUMAN	R	987;987;897	ENSP00000356646:L987R;ENSP00000263525:L987R	ENSP00000263525:L987R	L	-	2	0	0	TNR	173595385	173595385	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	8.606000	0.90888	2.159000	0.67721	0.533000	0.62120	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-9.831547	1	0.170000	NM_003285			10	10		381	372	0		1			0	0	109	0		9.966335e-01	0	0	0	0	0	0	10	381
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R	903	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.V903G(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)					TAGTCGTCCCACTGGAGAAGA	0.488																																						ENST00000367674.2	0.440000	0.130000	3.500000e-01	1.900000e-01	0.260000	0.278356	0.260000	0.250000																										2	Substitution - Missense(2)	p.V903G(2)	lung(2)	177						c.(2707-2709)gTg>gGg		tenascin R							158.0	148.0	151.0					1																	175331945		2203	4300	6503	SO:0001630	splice_region_variant	7143	0	0					g.chr1:175331945A>C	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.2708-1T>G	chr1.hg19:g.175331945A>C		1					TNR_ENST00000263525.2_Splice_Site_p.V903G	p.V903G			1	2	3	2.190011	Q92752	TENR_HUMAN		14	3416	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	0	1	hg19	c.2708T>G	CCDS1318.1	0	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818804	0.16607	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50001	0.76;0.76	5.79	5.79	0.91817	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.16171	0.0389	N	0.01197	-0.965	0.58432	D	0.999991	P	0.34462	0.454	B	0.34931	0.192	T	0.35724	-0.9777	10	0.05721	T	0.95	.	7.4796	0.27398	0.8761:0.0:0.1239:0.0	.	903	Q92752	TENR_HUMAN	G	903;903;813	ENSP00000356646:V903G;ENSP00000263525:V903G	ENSP00000263525:V903G	V	-	2	0	0	TNR	173598568	173598568	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.967000	0.56802	2.205000	0.71048	0.528000	0.53228	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.270384	1	0.170000	NM_003285	Missense_Mutation		11	11		534	522	0		1			0	0	86	0		9.981442e-01	0	0	0	0	0	0	11	534
TNR	7143	broad.mit.edu	37	1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R	897	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)				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)					GGTCGATATGATACTCGGTAG	0.438																																						ENST00000367674.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(2689-2691)Tca>Gca		tenascin R							171.0	154.0	160.0					1																	175332862		2203	4300	6503	SO:0001583	missense	7143	0	0					g.chr1:175332862A>C	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.2689T>G	chr1.hg19:g.175332862A>C	ENSP00000356646:p.Ser897Ala	1					TNR_ENST00000263525.2_Missense_Mutation_p.S897A	p.S897A			1	2	3	2.190011	Q92752	TENR_HUMAN		13	3397	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.2689T>G	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581674	0.46006	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.65677	2.01	0.52099	D	0.999948	B	0.06786	0.001	B	0.13407	0.009	T	0.41698	-0.9494	10	0.16420	T	0.52	.	10.905	0.47076	0.8432:0.1568:0.0:0.0	.	897	Q92752	TENR_HUMAN	A	897;897;807	ENSP00000356646:S897A;ENSP00000263525:S897A	ENSP00000263525:S897A	S	-	1	0	0	TNR	173599485	173599485	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.220000	0.72237	2.209000	0.71365	0.533000	0.62120	TCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_003285			65	64		329	323	1		1	0		0	0	97	0		1	0	0	0	0	1	0	65	329
TNR	7143	broad.mit.edu	37	1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R	748	Fibronectin type-III 5. {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)				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)					ATGTACTCTGCCCCAGGCTCT	0.537																																						ENST00000367674.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(2242-2244)Gca>Aca		tenascin R							166.0	153.0	157.0					1																	175335086		2203	4300	6503	SO:0001583	missense	7143	0	0					g.chr1:175335086C>T	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.2242G>A	chr1.hg19:g.175335086C>T	ENSP00000356646:p.Ala748Thr	1					TNR_ENST00000263525.2_Missense_Mutation_p.A748T	p.A748T			1	2	3	2.190011	Q92752	TENR_HUMAN		11	2950	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.2242G>A	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731404	0.15507	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49139	0.79;0.79	5.95	3.88	0.44766	5.95	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054165	0.64402	D	0.000001	T	0.09686	0.0238	N	0.00202	-1.86	0.36312	D	0.857685	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	4.424	0.11495	0.0:0.5736:0.0:0.4264	.	748	Q92752	TENR_HUMAN	T	748	ENSP00000356646:A748T;ENSP00000263525:A748T	ENSP00000263525:A748T	A	-	1	0	0	TNR	173601709	173601709	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.815000	0.55651	1.514000	0.48869	0.650000	0.86243	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_003285			129	128		361	351	1		1	0		0	0	114	0		1	0	0	0	0	1	0	129	361
TNR	7143	broad.mit.edu	37	1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1. {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)				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)					AAGTCCTCTGGAGGGGCAACT	0.557																																						ENST00000367674.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				177						c.(985-987)Cca>Aca		tenascin R							74.0	77.0	76.0					1																	175365935		2203	4300	6503	SO:0001583	missense	7143	0	0					g.chr1:175365935G>T	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.985C>A	chr1.hg19:g.175365935G>T	ENSP00000356646:p.Pro329Thr	1					TNR_ENST00000263525.2_Missense_Mutation_p.P329T	p.P329T			1	2	3	2.190011	Q92752	TENR_HUMAN		5	1693	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.985C>A	CCDS1318.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291601|4.291601	0.80914|0.80914	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.79845|.	-1.31;-1.31|.	5.95|5.95	5.95|5.95	0.96441|0.96441	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.060171|.	0.64402|.	D|.	0.000003|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	D|.	0.65573|.	0.936|.	D|D	0.85106|0.85106	0.0960|0.0960	10|5	0.72032|.	D|.	0.01|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q92752|.	TENR_HUMAN|.	T|Y	329|53	ENSP00000356646:P329T;ENSP00000263525:P329T|.	ENSP00000263525:P329T|.	P|S	-|-	1|2	0|0	0|0	TNR|TNR	173632558|173632558	173632558|173632558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.286000|3.286000	0.51724|0.51724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCA|TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-3.142732	1	0.170000	NM_003285			90	88		547	535	1		1			0	0	130	0		1	0	0	0	0	0	0	90	547
PADI1	29943	broad.mit.edu	37	1	17570600	17570600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000536552.1_Silent_p.S89S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	618					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			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)	AGGTGCAGTCCCTGCTGGAGC	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.936619	0.940000	0.990000																										0				28						c.(1852-1854)tcC>tcT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						89.0	81.0	84.0					1																	17570600		2203	4300	6503	SO:0001819	synonymous_variant	29943	1	121412	33				g.chr1:17570600C>T	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.1854C>T	chr1.hg19:g.17570600C>T		1					PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR	p.S618S	NM_013358.2	NP_037490.2	0	1	1	1.828421	Q9ULC6	PADI1_HUMAN		16	1946	+		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)	A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	1	1	hg19	c.1854C>T	CCDS178.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.319031	1	0.170000	NM_013358			36	35		251	250	1		1	0		0	0	65	0		1	1.745632e-01	0	1	0	5	0	36	251
PADI3	51702	broad.mit.edu	37	1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	341					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627																																						ENST00000375460.3	0.890000	0.290000	7.300000e-01	4.000000e-01	0.550000	0.575285	0.550000	0.540000																										0				32						c.(1021-1023)gaG>gaT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						45.0	42.0	43.0					1																	17597649		2203	4300	6503	SO:0001583	missense	51702	0	0					g.chr1:17597649G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1023G>T	chr1.hg19:g.17597649G>T	ENSP00000364609:p.Glu341Asp	1						p.E341D	NM_016233.2	NP_057317.2	0	1	1	1.828421	Q9ULW8	PADI3_HUMAN		9	1063	+		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)	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	1	1	hg19	c.1023G>T	CCDS179.1	0	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593350	0.28357	.	.	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.35	2.39	0.29439	5.35	2.39	0.29439	Protein-arginine deiminase, C-terminal (1);	0.157632	0.56097	D	0.000028	T	0.22085	0.0532	M	0.67397	2.05	0.36617	D	0.875516	B	0.27316	0.175	B	0.27887	0.084	T	0.11324	-1.0592	10	0.15952	T	0.53	-29.1634	6.0443	0.19752	0.0749:0.1355:0.6491:0.1405	.	341	Q9ULW8	PADI3_HUMAN	D	341	ENSP00000364609:E341D	ENSP00000364609:E341D	E	+	3	2	2	PADI3	17470236	17470236	1.000000	0.71417	0.959000	0.39883	0.776000	0.43924	2.966000	0.49208	0.229000	0.21039	0.655000	0.94253	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-13.244880	1	0.170000				10	10		181	180	0		1	0		0	0	36	0		9.970370e-01	1.010630e-02	0	0	0	3	0	10	181
TNR	7143	broad.mit.edu	37	1	175375803	175375803	+	Silent	SNP	G	G	A	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R	16					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)				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)					TCAGGTTGATGCCAATGAGCA	0.557													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0					ENST00000367674.2	1.000000	0.830000	1	9.400000e-01	0.990000	0.979825	0.990000	1.000000																										0				177						c.(46-48)ggC>ggT		tenascin R		G		3,4403	6.2+/-15.9	0,3,2200	174.0	154.0	161.0		48	-11.1	0.5	1	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TNR	NM_003285.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		16/1359	175375803	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7143	15	121412	45				g.chr1:175375803G>A	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.48C>T	chr1.hg19:g.175375803G>A		1					TNR_ENST00000263525.2_Silent_p.G16G	p.G16G			1	2	3	2.190011	Q92752	TENR_HUMAN		3	756	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	1	1	hg19	c.48C>T	CCDS1318.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	147		147	144	1	2.060000	-14.705870	1	0.170000	NM_003285			59	59		641	629	0		1			0	0	147	0		1	0	0	0	0	0	0	59	641
RFWD2	64326	broad.mit.edu	37	1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	108	Ser-rich.				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)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCTGCCGCTGCCTAGGCT	0.677																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3	0.930000	0.330000	7.600000e-01	4.400000e-01	0.590000	0.610127	0.590000	0.570000																										0				30						c.(322-324)aGc>aAc		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							24.0	23.0	24.0					1																	176175792		2170	4252	6422	SO:0001583	missense	64326	0	0					g.chr1:176175792C>T	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.323G>A	chr1.hg19:g.176175792C>T	ENSP00000356641:p.Ser108Asn	1					RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	p.S108N	NM_022457.5	NP_071902.2	1	2	3	2.190011	Q8NHY2	RFWD2_HUMAN		1	837	-			E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	1	1	hg19	c.323G>A	CCDS30944.1	0	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751596	0.69533	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.59638	0.37;0.25	3.76	3.76	0.43208	3.76	3.76	0.43208	.	0.391206	0.27433	N	0.019395	T	0.45236	0.1332	N	0.24115	0.695	0.53005	D	0.999965	B;B	0.30889	0.299;0.198	B;B	0.32864	0.154;0.074	T	0.50083	-0.8869	10	0.46703	T	0.11	-4.3193	14.8775	0.70504	0.0:1.0:0.0:0.0	.	108;108	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	N	108	ENSP00000356641:S108N;ENSP00000310943:S108N	ENSP00000310943:S108N	S	-	2	0	0	RFWD2	174442415	174442415	0.997000	0.39634	0.963000	0.40424	0.796000	0.44982	3.980000	0.56895	2.076000	0.62316	0.455000	0.32223	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-14.880130	1	0.170000	NM_022457			13	13		274	270	0		1	1		0	0	37	0		9.995234e-01	5.777455e-01	0	4	0	37	0	13	274
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527																																						ENST00000375448.4	1.000000	0.900000	1	9.500000e-01	0.980000	0.978035	0.980000	0.990000																										0				26						c.(478-480)Gaa>Aaa		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						152.0	128.0	136.0					1																	17664602		2203	4300	6503	SO:0001583	missense	23569	0	0					g.chr1:17664602G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	chr1.hg19:g.17664602G>A	ENSP00000364597:p.Glu160Lys	1					AC004824.2_ENST00000602074.1_Intron	p.E160K	NM_012387.2	NP_036519.2	0	1	1	1.828421	Q9UM07	PADI4_HUMAN		5	504	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	1	1	hg19	c.478G>A	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	0	PADI4	17537189	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-3.353044	1	0.170000	NM_012387			70	70		339	333	1		1			0	0	105	0		1	0	0	0	0	0	0	70	339
PAPPA2	60676	broad.mit.edu	37	1	176526268	176526268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	270					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)			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						GGAGGCGGGAGCGGCTGCTGC	0.572																																						ENST00000367662.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				226						c.(808-810)gaG>gaA		pappalysin 2							40.0	40.0	40.0					1																	176526268		1924	4144	6068	SO:0001819	synonymous_variant	60676	0	0					g.chr1:176526268G>A	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.810G>A	chr1.hg19:g.176526268G>A		1					PAPPA2_ENST00000367661.3_Silent_p.E270E	p.E270E	NM_020318.2	NP_064714.2	1	2	3	2.190011	Q9BXP8	PAPP2_HUMAN		2	1974	+			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	1	1	hg19	c.810G>A	CCDS41438.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				64	64		202	201	0		1	0		0	0	53	0		1	1.489886e-01	0	0	0	3	0	64	202
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582																																						ENST00000375448.4	0.960000	0.400000	8.500000e-01	5.200000e-01	0.680000	0.689223	0.680000	0.680000																										0				26						c.(1060-1062)atC>atT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						105.0	88.0	94.0					1																	17674450		2203	4300	6503	SO:0001819	synonymous_variant	23569	2	121396	36				g.chr1:17674450C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1062C>T	chr1.hg19:g.17674450C>T		1					AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	p.I354I	NM_012387.2	NP_036519.2	0	1	1	1.828421	Q9UM07	PADI4_HUMAN		10	1088	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	1	1	hg19	c.1062C>T	CCDS180.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-17.629220	1	0.170000	NM_012387			14	14		200	196	0		1			0	0	55	0		9.997540e-01	0	0	0	0	0	0	14	200
PAPPA2	60676	broad.mit.edu	37	1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1452	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						TTCTTCTGGGCACTGGGACCA	0.473																																						ENST00000367662.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.990605	0.990000	1.000000																										0				226						c.(4354-4356)Cac>Tac		pappalysin 2							124.0	115.0	118.0					1																	176738773		1905	4122	6027	SO:0001583	missense	60676	0	0					g.chr1:176738773C>T	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.4354C>T	chr1.hg19:g.176738773C>T	ENSP00000356634:p.His1452Tyr	1						p.H1452Y	NM_020318.2	NP_064714.2	1	2	3	2.190011	Q9BXP8	PAPP2_HUMAN		16	5518	+			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	1	1	hg19	c.4354C>T	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295248	0.40594	.	.	ENSG00000116183	ENST00000367662	T	0.76060	-0.99	6.17	2.18	0.27775	6.17	2.18	0.27775	Sushi/SCR/CCP (1);	0.567281	0.20649	N	0.088252	T	0.67887	0.2941	L	0.60455	1.87	0.09310	N	0.999998	B	0.30542	0.284	B	0.33339	0.162	T	0.58891	-0.7556	10	0.44086	T	0.13	-8.2663	8.212	0.31488	0.0:0.6964:0.113:0.1906	.	1452	Q9BXP8	PAPP2_HUMAN	Y	1452	ENSP00000356634:H1452Y	ENSP00000356634:H1452Y	H	+	1	0	0	PAPPA2	175005396	175005396	0.000000	0.05858	0.983000	0.44433	0.960000	0.62799	0.126000	0.15769	0.468000	0.27243	0.655000	0.94253	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-13.761880	1	0.170000				45	44		445	439	0		1			0	0	88	0		1	0	0	0	0	0	0	45	445
PAPPA2	60676	broad.mit.edu	37	1	176760572	176760572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1658	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						CACCCCCCTCAGAGCTGAATT	0.433																																						ENST00000367662.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				226						c.(4972-4974)tcA>tcG		pappalysin 2							85.0	84.0	85.0					1																	176760572		1896	4105	6001	SO:0001819	synonymous_variant	60676	0	0					g.chr1:176760572A>G	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.4974A>G	chr1.hg19:g.176760572A>G		1						p.S1658S	NM_020318.2	NP_064714.2	1	2	3	2.190011	Q9BXP8	PAPP2_HUMAN		19	6138	+			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	1	1	hg19	c.4974A>G	CCDS41438.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1		2	2	2	0		0	0	61		61	62	1	2.060000	-20.000000	1	0.170000				72	66		311	300	1		1	0		0	0	61	0		1	3.180827e-01	0	0	0	6	0	72	311
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.R1718H(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						ACTGGCCGGCGTCAATGGCAC	0.493																																						ENST00000367662.3	0.740000	0.330000	6.300000e-01	4.200000e-01	0.510000	0.531613	0.510000	0.510000																										1	Substitution - Missense(1)	p.R1718H(1)	large_intestine(1)	226						c.(5152-5154)cGt>cAt		pappalysin 2							133.0	129.0	131.0					1																	176769219		1935	4140	6075	SO:0001583	missense	60676	9	120854	44				g.chr1:176769219G>A	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.5153G>A	chr1.hg19:g.176769219G>A	ENSP00000356634:p.Arg1718His	1						p.R1718H	NM_020318.2	NP_064714.2	1	2	3	2.190011	Q9BXP8	PAPP2_HUMAN		21	6317	+			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	1	1	hg19	c.5153G>A	CCDS41438.1	0	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	0	PAPPA2	175035842	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.700786	1	0.170000				24	23		571	559	0		1	0		0	0	114	0		9.999996e-01	5.311597e-02	0	0	0	9	0	24	571
ASTN1	460	broad.mit.edu	37	1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.3	-	18	3203	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I|ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	998					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(2992-2994)Ctc>Atc		astrotactin 1							100.0	87.0	92.0					1																	176857313		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:176857313G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2992C>A	chr1.hg19:g.176857313G>T	ENSP00000356626:p.Leu998Ile	1					ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I	p.L998I	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		18	3203	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.2992C>A		1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947532	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.063133	0.64402	D	0.000005	T	0.25717	0.0626	N	0.17082	0.46	0.54753	D	0.999981	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.03374	-1.1043	10	0.45353	T	0.12	-25.1042	14.515	0.67814	0.0:0.0:0.8532:0.1468	.	990;990	O14525-2;B1AJS1	.;.	I	990;990;998;990;990	ENSP00000356629:L990I;ENSP00000354536:L990I;ENSP00000356626:L998I;ENSP00000395041:L990I	ENSP00000354536:L990I	L	-	1	0	0	ASTN1	175123936	175123936	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.348000	0.59379	2.744000	0.94065	0.585000	0.79938	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.096616	1	0.170000	NM_004319			47	47		246	243	1		1			0	0	56	0		1	0	0	0	0	0	0	47	246
ASTN1	460	broad.mit.edu	37	1	176863860	176863860	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.3	-	17	3013	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A|ASTN1_ENST00000367657.3_Silent_p.A926A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	934					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(2800-2802)gcG>gcA		astrotactin 1							99.0	97.0	98.0					1																	176863860		2203	4300	6503	SO:0001819	synonymous_variant	460	5	121412	40				g.chr1:176863860C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2802G>A	chr1.hg19:g.176863860C>T		1					ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A	p.A934A	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		17	3013	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	1	1	hg19	c.2802G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-5.433160	1	0.170000	NM_004319			181	178		581	573	1		1			0	0	102	0		1	0	0	0	0	0	0	181	581
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.3	-	13	2344	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000367657.3_Silent_p.T703T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	711					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(2131-2133)acG>acA		astrotactin 1							111.0	99.0	103.0					1																	176915202		2203	4300	6503	SO:0001819	synonymous_variant	460	1	121412	35				g.chr1:176915202C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2133G>A	chr1.hg19:g.176915202C>T		1					ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T	p.T711T	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		13	2344	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	1	1	hg19	c.2133G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-2.502104	1	0.170000	NM_004319			89	84		444	440	1		1			0	0	77	0		1	0	0	0	0	0	0	89	444
ASTN1	460	broad.mit.edu	37	1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.3	-	7	1587	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	459	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(1375-1377)gCc>gTc		astrotactin 1							34.0	31.0	32.0					1																	176992602		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:176992602G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1376C>T	chr1.hg19:g.176992602G>A	ENSP00000356626:p.Ala459Val	1					ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V	p.A459V	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		7	1587	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.1376C>T		1	.	.	.	.	.	.	.	.	.	.	G	9.922	1.212440	0.22289	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.12569	2.67;3.09;3.09;2.67	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000005	T	0.06508	0.0167	N	0.02916	-0.46	0.53005	D	0.999964	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.23440	-1.0188	10	0.02654	T	1	-30.7684	19.8914	0.96931	0.0:0.0:1.0:0.0	.	459;459;459	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	459	ENSP00000356629:A459V;ENSP00000354536:A459V;ENSP00000356626:A459V;ENSP00000395041:A459V	ENSP00000354536:A459V	A	-	2	0	0	ASTN1	175259225	175259225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.813000	0.96785	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_004319			28	28		74	73	1		1			0	0	29	0		1	0	0	0	0	0	0	28	74
ASTN1	460	broad.mit.edu	37	1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.3	-	7	1575	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	455					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(1363-1365)aGc>aAc		astrotactin 1							37.0	34.0	35.0					1																	176992614		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:176992614C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1364G>A	chr1.hg19:g.176992614C>T	ENSP00000356626:p.Ser455Asn	1					ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N	p.S455N	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		7	1575	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.1364G>A		1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509064	0.85282	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.53;2.53;2.12	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.29908	0.895	0.58432	D	0.999993	B;B;B	0.25667	0.131;0.05;0.05	B;B;B	0.24701	0.055;0.032;0.032	T	0.02539	-1.1144	10	0.66056	D	0.02	-19.3059	19.8914	0.96931	0.0:1.0:0.0:0.0	.	455;455;455	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	455	ENSP00000356629:S455N;ENSP00000354536:S455N;ENSP00000356626:S455N;ENSP00000395041:S455N	ENSP00000354536:S455N	S	-	2	0	0	ASTN1	175259237	175259237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.813000	0.96785	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_004319			35	34		76	75	1		1			0	0	31	0		1	0	0	0	0	0	0	35	76
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	425					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557																																						ENST00000367654.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993634	0.990000	1.000000																										0				153						c.(1273-1275)aGc>aAc		astrotactin 1							39.0	37.0	37.0					1																	176992704		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:176992704C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1274G>A	chr1.hg19:g.176992704C>T	ENSP00000356626:p.Ser425Asn	1					ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N	p.S425N	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		7	1485	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.1274G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	0	ASTN1	175259327	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-19.999980	1	0.170000	NM_004319			16	15		124	122	1		1			0	0	40	0		9.999418e-01	0	0	0	0	0	0	16	124
ASTN1	460	broad.mit.edu	37	1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.3	-	4	1082	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|MIR488_ENST00000365739.2_RNA	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	291					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(871-873)Gac>Aac		astrotactin 1							102.0	103.0	103.0					1																	177000083		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:177000083C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.871G>A	chr1.hg19:g.177000083C>T	ENSP00000356626:p.Asp291Asn	1					MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N	p.D291N	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		4	1082	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.871G>A		1	.	.	.	.	.	.	.	.	.	.	C	34	5.341740	0.95783	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.74;2.75;2.33	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.81914	0.995;0.987;0.987	T	0.03773	-1.1005	10	0.66056	D	0.02	-36.3384	19.5808	0.95467	0.0:1.0:0.0:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	291	ENSP00000356629:D291N;ENSP00000354536:D291N;ENSP00000356626:D291N;ENSP00000395041:D291N	ENSP00000354536:D291N	D	-	1	0	0	ASTN1	175266706	175266706	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.348000	0.79366	2.706000	0.92434	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-4.119427	1	0.170000	NM_004319			70	66		241	234	1		1			0	0	52	0		1	0	0	0	0	0	0	70	241
ASTN1	460	broad.mit.edu	37	1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.3	-	2	599	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	130					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(388-390)Agc>Cgc		astrotactin 1							254.0	238.0	244.0					1																	177030297		2203	4300	6503	SO:0001583	missense	460	0	0					g.chr1:177030297T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.388A>C	chr1.hg19:g.177030297T>G	ENSP00000356626:p.Ser130Arg	1					ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R	p.S130R	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		2	599	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.388A>C		1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998800	0.54147	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.133095	0.64402	D	0.000003	T	0.14356	0.0347	L	0.36672	1.1	0.41103	D	0.985688	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15870	0.014;0.014;0.014	T	0.02471	-1.1154	10	0.49607	T	0.09	-23.7253	16.2708	0.82618	0.0:0.0:0.0:1.0	.	130;130;130	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	130	ENSP00000356629:S130R;ENSP00000354536:S130R;ENSP00000356626:S130R;ENSP00000395041:S130R	ENSP00000354536:S130R	S	-	1	0	0	ASTN1	175296920	175296920	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	6.017000	0.70805	2.324000	0.78689	0.533000	0.62120	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	167		167	164	1	2.060000	-20.000000	1	0.170000	NM_004319			263	259		800	790	1		1			0	0	167	0		1	0	0	0	0	0	0	263	800
PADI6	353238	broad.mit.edu	37	1	17722154	17722154	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	ENST00000434762.2	+	0	1664							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCTCCTGTCTAATGGTAAG	0.502																																						ENST00000434762.2	0.990000	0.420000	9.400000e-01	6.000000e-01	0.790000	0.777250	0.790000	0.980000																										0				29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						30.0	31.0	31.0					1																	17722154		1972	4152	6124			353238	0	0					g.chr1:17722154C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		chr1.hg19:g.17722154C>T		1									0	1	1	1.828421	Q6TGC4	PADI6_HUMAN		0	1664	+		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)	Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	0	1	hg19			0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-12.785460	1	0.170000	NM_207421			7	7		62	61	0		1			0	0	16	0		9.815519e-01	0	0	0	0	0	0	7	62
RCC2	55920	broad.mit.edu	37	1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	245					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)			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)		CTGCGCGGGGCTGGGAACAGC	0.512																																						ENST00000375436.4	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.926712	0.930000	0.990000																										0				17						c.(733-735)aGc>aTc		regulator of chromosome condensation 2							69.0	88.0	81.0					1																	17748709		2203	4300	6503	SO:0001583	missense	55920	0	0					g.chr1:17748709C>A		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.734G>T	chr1.hg19:g.17748709C>A	ENSP00000364585:p.Ser245Ile	1					RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	p.S245I	NM_018715.3	NP_061185.1	0	1	1	1.828421	Q9P258	RCC2_HUMAN		6	921	-		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)	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	1	1	hg19	c.734G>T	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849906	0.71603	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83914	-1.78;-1.78	5.4	5.4	0.78164	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	D	0.85421	0.1143	10	0.35671	T	0.21	-32.6291	18.1041	0.89515	0.0:1.0:0.0:0.0	.	245	Q9P258	RCC2_HUMAN	I	245	ENSP00000364585:S245I;ENSP00000364582:S245I	ENSP00000364582:S245I	S	-	2	0	0	RCC2	17621296	17621296	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.253000	0.43205	2.711000	0.92665	0.561000	0.74099	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-18.035510	1	0.170000	NM_018715			59	59		531	513	1		1	1		0	0	92	0		1	9.999991e-01	0	19	0	161	0	59	531
RCC2	55920	broad.mit.edu	37	1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	213					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)			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)		GGCCAAGGTGTGGTTCCGCCC	0.602																																						ENST00000375436.4	1.000000	0.850000	1	9.200000e-01	0.960000	0.962640	0.960000	0.990000																										0				17						c.(637-639)cAc>cCc		regulator of chromosome condensation 2							108.0	88.0	95.0					1																	17749218		2203	4300	6503	SO:0001583	missense	55920	0	0					g.chr1:17749218T>G		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.638A>C	chr1.hg19:g.17749218T>G	ENSP00000364585:p.His213Pro	1					RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	p.H213P	NM_018715.3	NP_061185.1	0	1	1	1.828421	Q9P258	RCC2_HUMAN		5	825	-		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)	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	1	1	hg19	c.638A>C	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150176	0.78001	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.92048	-2.96;-2.96	5.1	5.1	0.69264	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98922	1.0784	10	0.87932	D	0	-27.7457	14.0094	0.64486	0.0:0.0:0.0:1.0	.	213	Q9P258	RCC2_HUMAN	P	213	ENSP00000364585:H213P;ENSP00000364582:H213P	ENSP00000364582:H213P	H	-	2	0	0	RCC2	17621805	17621805	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.884000	0.87274	2.059000	0.61396	0.454000	0.30748	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_018715			47	47		258	254	1		1	1		0	0	58	0		1	1	0	71	0	173	0	47	258
ASTN1	460	broad.mit.edu	37	1	177133624	177133624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.3	-	1	400	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000367657.3_Silent_p.E63E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	63					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617																																						ENST00000367654.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(187-189)gaG>gaA		astrotactin 1							69.0	57.0	61.0					1																	177133624		2203	4300	6503	SO:0001819	synonymous_variant	460	0	0					g.chr1:177133624C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.189G>A	chr1.hg19:g.177133624C>T		1					ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E	p.E63E	NM_004319.1	NP_004310.1	1	2	3	2.190011	O14525	ASTN1_HUMAN		1	400	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	1	1	hg19	c.189G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_004319			60	59		185	183	0		1			0	0	23	0		1	0	0	0	0	0	0	60	185
SEC16B	89866	broad.mit.edu	37	1	177913771	177913771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	602					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)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473																																						ENST00000308284.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1804-1806)gaG>gaA		SEC16 homolog B (S. cerevisiae)							137.0	141.0	140.0					1																	177913771		1900	4118	6018	SO:0001819	synonymous_variant	89866	0	0					g.chr1:177913771C>T	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.1806G>A	chr1.hg19:g.177913771C>T		1					RP4-798P15.3_ENST00000354921.3_RNA	p.E602E	NM_033127.2	NP_149118.2	1	2	3	2.190011	Q96JE7	SC16B_HUMAN		15	1895	-			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	1	1	hg19	c.1806G>A	CCDS44281.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	1	0	1		2	2	2	0		0	0	134		134	129	1	2.060000	-4.377510	1	0.170000	NM_033127			166	166		584	577	1		1	1		0	0	134	0		1	9.997152e-01	0	23	0	21	0	166	584
SEC16B	89866	broad.mit.edu	37	1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	229					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)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512																																						ENST00000308284.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(685-687)tCt>tTt		SEC16 homolog B (S. cerevisiae)							48.0	50.0	49.0					1																	177930826		1971	4160	6131	SO:0001583	missense	89866	0	0					g.chr1:177930826G>A	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.686C>T	chr1.hg19:g.177930826G>A	ENSP00000308339:p.Ser229Phe	1					SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000354921.3_RNA	p.S229F	NM_033127.2	NP_149118.2	1	2	3	2.190011	Q96JE7	SC16B_HUMAN		6	775	-			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	1	1	hg19	c.686C>T	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297096	0.81025	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.50813	2.31;0.73	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.086330	0.51477	D	0.000092	T	0.59595	0.2205	M	0.66939	2.045	0.49687	D	0.999813	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.55923	0.787;0.771;0.771	T	0.52866	-0.8518	10	0.11485	T	0.65	-13.7531	17.8165	0.88635	0.0:0.0:1.0:0.0	.	229;229;229	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	F	229	ENSP00000308339:S229F;ENSP00000431727:S229F	ENSP00000308339:S229F	S	-	2	0	0	AL359075.1	176197449	176197449	1.000000	0.71417	0.985000	0.45067	0.640000	0.38277	4.685000	0.61693	2.731000	0.93534	0.650000	0.86243	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_033127			33	33		173	168	1		1	1		0	0	49	0		1	9.872848e-01	0	9	0	30	0	33	173
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433																																						ENST00000462775.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998661	0.990000	1.000000																										0				54						c.(328-330)cCt>cAt		RAS protein activator like 2							143.0	130.0	135.0					1																	178408655		2203	4300	6503	SO:0001583	missense	9462	0	0					g.chr1:178408655C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.329C>A	chr1.hg19:g.178408655C>A	ENSP00000420558:p.Pro110His	1					RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	p.P110H	NM_004841.3	NP_004832.1	1	2	3	2.190011	Q9UJF2	NGAP_HUMAN		4	454	+			F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	1	1	hg19	c.329C>A	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	0	RASAL2	176675278	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.318794	1	0.170000	NM_170692			43	43		364	355	1		1	0		0	0	62	0		1	9.942202e-01	0	1	0	68	0	43	364
RASAL2	9462	broad.mit.edu	37	1	178425861	178425861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000462775.1	+	11	1919	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	RASAL2_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000448150.3_Silent_p.T728T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	598					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468																																						ENST00000462775.1	1.000000	0.730000	9.700000e-01	8.000000e-01	0.880000	0.886806	0.880000	1.000000																										0				54						c.(1792-1794)acC>acT		RAS protein activator like 2							217.0	229.0	225.0					1																	178425861		2203	4300	6503	SO:0001819	synonymous_variant	9462	1	121412	42				g.chr1:178425861C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1794C>T	chr1.hg19:g.178425861C>T		1					RASAL2_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000448150.3_Silent_p.T728T	p.T598T	NM_004841.3	NP_004832.1	1	2	3	2.190011	Q9UJF2	NGAP_HUMAN		11	1919	+			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	1	1	hg19	c.1794C>T	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138821	0.09083	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	0.19	0.15125	5.04	0.19	0.15125	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	3.425	0.07408	0.1192:0.5236:0.1172:0.24	.	.	.	.	C	149	.	.	R	+	1	0	0	RASAL2	176692484	176692484	0.808000	0.29022	0.992000	0.48379	0.931000	0.56810	-0.119000	0.10676	0.117000	0.18138	-0.136000	0.14681	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1		2	2	2	0		0	0	272		272	272	1	2.060000	-3.017764	1	0.170000	NM_170692			116	109		1556	1523	0		1	0		0	0	272	0		1	9.252620e-01	0	1	0	59	0	116	1556
RASAL2	9462	broad.mit.edu	37	1	178427268	178427268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000462775.1	+	12	2543	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	RASAL2_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000448150.3_Silent_p.N936N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	806					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483																																						ENST00000462775.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2416-2418)aaC>aaT		RAS protein activator like 2							83.0	84.0	84.0					1																	178427268		2203	4300	6503	SO:0001819	synonymous_variant	9462	0	0					g.chr1:178427268C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2418C>T	chr1.hg19:g.178427268C>T		1					RASAL2_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000448150.3_Silent_p.N936N	p.N806N	NM_004841.3	NP_004832.1	1	2	3	2.190011	Q9UJF2	NGAP_HUMAN		12	2543	+			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	1	1	hg19	c.2418C>T	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134370	0.09032	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	4.4	0.53042	5.31	4.4	0.53042	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56456	-0.7976	4	.	.	.	.	8.6916	0.34271	0.0:0.7721:0.0:0.2279	.	.	.	.	S	357	.	.	P	+	1	0	0	RASAL2	176693891	176693891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	1.235000	0.43724	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_170692			109	106		351	345	1		1	1		0	0	98	0		1	1	0	8	0	74	0	109	351
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537																																						ENST00000462775.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)	lung(3)	54						c.(3325-3327)Cgg>Tgg		RAS protein activator like 2							180.0	152.0	161.0					1																	178442279		2203	4300	6503	SO:0001583	missense	9462	3	121412	38				g.chr1:178442279C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3325C>T	chr1.hg19:g.178442279C>T	ENSP00000420558:p.Arg1109Trp	1					RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W	p.R1109W	NM_004841.3	NP_004832.1	1	2	3	2.190011	Q9UJF2	NGAP_HUMAN		16	3450	+			F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	1	1	hg19	c.3325C>T	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	0|2	RASAL2|RASAL2	176708902|176708902	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	0		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_170692			81	79		436	426	1		1	1		0	0	104	0		1	9.999991e-01	0	13	0	95	0	81	436
RASAL2	9462	broad.mit.edu	37	1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000462775.1	+	16	3502	c.3377T>G	c.(3376-3378)cTt>cGt	p.L1126R	RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1126					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537																																						ENST00000462775.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3376-3378)cTt>cGt		RAS protein activator like 2							165.0	138.0	147.0					1																	178442331		2203	4300	6503	SO:0001583	missense	9462	0	0					g.chr1:178442331T>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3377T>G	chr1.hg19:g.178442331T>G	ENSP00000420558:p.Leu1126Arg	1					RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R	p.L1126R	NM_004841.3	NP_004832.1	1	2	3	2.190011	Q9UJF2	NGAP_HUMAN		16	3502	+			F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	1	1	hg19	c.3377T>G	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.719691|3.719691	0.68844|0.68844	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.26660	.|1.72;1.72;1.73	5.7|5.7	5.7|5.7	0.88788|0.88788	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.46703	.|T	.|0.11	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1126;1267	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|R	687|1256;1267;1126	.|ENSP00000407768:L1256R;ENSP00000356621:L1267R;ENSP00000420558:L1126R	.|ENSP00000356621:L1267R	F|L	+|+	1|2	0|0	0|0	RASAL2|RASAL2	176708954|176708954	176708954|176708954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.170000|2.170000	0.68504|0.68504	0.482000|0.482000	0.46254|0.46254	TTT|CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	0		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_170692			112	111		318	311	1		1	1		0	0	93	0		1	1	0	10	0	89	0	112	318
RALGPS2	55103	broad.mit.edu	37	1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	403					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			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						AGCGATGGTTCTGAACTAAGT	0.303																																						ENST00000367635.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1207-1209)tCt>tAt		Ral GEF with PH domain and SH3 binding motif 2							128.0	139.0	135.0					1																	178858792		2203	4300	6503	SO:0001583	missense	55103	0	0					g.chr1:178858792C>A	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.1208C>A	chr1.hg19:g.178858792C>A	ENSP00000356607:p.Ser403Tyr	1					RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	p.S403Y	NM_152663.3	NP_689876.2	1	2	3	2.190011	Q86X27	RGPS2_HUMAN		14	1546	+			B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	1	1	hg19	c.1208C>A	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428166|4.428166	0.83667|0.83667	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.28454	.|1.73;1.79;1.61	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.72982	.|0.898;0.979	T|T	0.56866|0.56866	-0.7908|-0.7908	5|10	.|0.62326	.|D	.|0.03	.|.	18.8902|18.8902	0.92397|0.92397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;403	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	M|Y	20|403;403;368;52	.|ENSP00000356607:S403Y;ENSP00000356606:S403Y;ENSP00000313613:S368Y	.|ENSP00000313613:S368Y	L|S	+|+	1|2	2|0	2|0	RALGPS2|RALGPS2	177125415|177125415	177125415|177125415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.479000|7.479000	0.81095|0.81095	2.558000|2.558000	0.86282|0.86282	0.460000|0.460000	0.39030|0.39030	CTG|TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_152663			148	145		457	450	1		1	1		0	0	121	0		1	9.999717e-01	0	28	0	21	0	148	457
RALGPS2	55103	broad.mit.edu	37	1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			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						GTGATGATGGCTGATGACCCT	0.393																																						ENST00000367635.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1579-1581)gCt>gAt		Ral GEF with PH domain and SH3 binding motif 2							225.0	196.0	206.0					1																	178871296		2203	4300	6503	SO:0001583	missense	55103	0	0					g.chr1:178871296C>A	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.1580C>A	chr1.hg19:g.178871296C>A	ENSP00000356607:p.Ala527Asp	1					RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	p.A527D	NM_152663.3	NP_689876.2	1	2	3	2.190011	Q86X27	RGPS2_HUMAN		18	1918	+			B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	1	1	hg19	c.1580C>A	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642959|4.642959	0.87859|0.87859	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	5.69|5.69	5.69|5.69	0.88448|0.88448	5.69|5.69	5.69|5.69	0.88448|0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;P|.	0.43352|.	0.08;0.804|.	B;B|.	0.44315|.	0.017;0.446|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.36615|.	T|.	0.2|.	.|.	19.4161|19.4161	0.94700|0.94700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501;527|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	D|M	527;501;492;176|118	ENSP00000356607:A527D;ENSP00000356606:A501D;ENSP00000313613:A492D|.	ENSP00000313613:A492D|.	A|L	+|+	2|1	0|2	0|2	RALGPS2|RALGPS2	177137919|177137919	177137919|177137919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.240541	1	0.170000	NM_152663			69	68		347	341	1		1	1		0	0	63	0		1	9.997346e-01	0	17	0	46	0	69	347
FAM20B	9917	broad.mit.edu	37	1	179033100	179033100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	ENST00000263733.4	+	5	949	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	205						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTATTACTGCCGAGAAACAGA	0.458																																						ENST00000263733.4	0.510000	0.200000	4.200000e-01	2.600000e-01	0.330000	0.348822	0.330000	0.330000																										0				14						c.(613-615)Cga>Tga		family with sequence similarity 20, member B							144.0	132.0	136.0					1																	179033100		2203	4300	6503	SO:0001587	stop_gained	9917	0	0					g.chr1:179033100C>T	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.613C>T	chr1.hg19:g.179033100C>T	ENSP00000263733:p.Arg205*	1						p.R205*	NM_014864.3	NP_055679.1	1	2	3	2.190011	O75063	XYLK_HUMAN		5	949	+			Q5W0C3|Q5W0C4	Nonsense_Mutation	SNP	ENST00000263733.4	0	1	hg19	c.613C>T	CCDS1328.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.452622	0.98292	.	.	ENSG00000116199	ENST00000263733	.	.	.	5.28	4.36	0.52297	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-28.6331	15.266	0.73663	0.1414:0.8586:0.0:0.0	.	.	.	.	X	205	.	ENSP00000263733:R205X	R	+	1	2	2	FAM20B	177299723	177299723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.628000	0.54259	1.203000	0.43233	-0.182000	0.12963	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	0	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.445241	0	0.170000	NM_014864			18	17		672	652	0		1	0		0	0	94	0		9.999760e-01	7.856944e-01	0	0	0	110	0	18	672
ARHGEF10L	55160	broad.mit.edu	37	1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	301						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		GCCCCCAGCCCCAGAGCTGGG	0.662																																						ENST00000361221.3	0.990000	0.480000	9.500000e-01	6.500000e-01	0.810000	0.802189	0.810000	0.940000																										0				43						c.(901-903)Cca>Aca		Rho guanine nucleotide exchange factor (GEF) 10-like							25.0	27.0	27.0					1																	17945899		2201	4300	6501	SO:0001583	missense	55160	0	0					g.chr1:17945899C>A	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.901C>A	chr1.hg19:g.17945899C>A	ENSP00000355060:p.Pro301Thr	1					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T	p.P301T	NM_018125.3	NP_060595	0	1	1	1.828421	Q9HCE6	ARGAL_HUMAN		10	1060	+		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)	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	1	1	hg19	c.901C>A	CCDS182.1	0	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750029	0.69533	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64803	0.23;0.33;0.07;0.33;-0.12;-0.05;2.14	4.75	4.75	0.60458	4.75	4.75	0.60458	Dbl homology (DH) domain (1);	0.067931	0.64402	D	0.000013	T	0.68128	0.2967	L	0.39898	1.24	0.40256	D	0.978126	D;P;D;P;P;D;D;D	0.65815	0.983;0.952;0.995;0.939;0.918;0.982;0.99;0.982	P;P;D;P;P;P;P;P	0.66847	0.806;0.703;0.947;0.494;0.558;0.864;0.878;0.758	T	0.71119	-0.4685	10	0.66056	D	0.02	-23.3795	10.0588	0.42261	0.0:0.9064:0.0:0.0936	.	79;59;301;79;67;262;262;301	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	301;262;301;262;59;79;79;79	ENSP00000355060:P301T;ENSP00000399401:P262T;ENSP00000394621:P301T;ENSP00000364564:P262T;ENSP00000364569:P59T;ENSP00000364557:P79T;ENSP00000167825:P79T	ENSP00000167825:P79T	P	+	1	0	0	ARHGEF10L	17818486	17818486	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	3.486000	0.53215	2.203000	0.70933	0.561000	0.74099	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-16.835300	1	0.170000	NM_018125			11	11		106	102	0		1	1		0	0	23	0		9.982976e-01	9.291573e-01	0	3	0	44	0	11	106
ABL2	27	broad.mit.edu	37	1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000344730.3_Intron	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	788	F-actin-binding. {ECO:0000250}.				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)			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)	AGCCCTGAGGACATGGAAGAT	0.507			T	ETV6	AML																																	ENST00000502732.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q24-q25	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2				L	L	ETV6		AML		0				65						c.(2362-2364)Tcc>Acc		ABL proto-oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						135.0	125.0	128.0					1																	179078040		2203	4300	6503	SO:0001583	missense	27	0	0					g.chr1:179078040A>T	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.2362T>A	chr1.hg19:g.179078040A>T	ENSP00000427562:p.Ser788Thr	1					ABL2_ENST00000504405.1_Intron|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	p.S788T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	1	2	3	2.190011	P42684	ABL2_HUMAN		12	2565	-			A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	1	1	hg19	c.2362T>A	CCDS30947.1	1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473385	0.43942	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.46145	D	0.000319	T	0.13030	0.0316	L	0.27053	0.805	0.53688	D	0.999976	P;P;P;B	0.49559	0.925;0.653;0.925;0.397	P;B;P;B	0.47162	0.54;0.328;0.54;0.155	T	0.01352	-1.1377	10	0.72032	D	0.01	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	767;788;773;752	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	T	788;752;773;767	ENSP00000427562:S788T;ENSP00000386152:S752T;ENSP00000423578:S773T;ENSP00000356595:S767T	ENSP00000356595:S767T	S	-	1	0	0	ABL2	177344663	177344663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.207000	0.71202	0.533000	0.62120	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	1	0	0		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_005158			159	155		476	468	1		1	1		0	0	113	0		1	9.922564e-01	0	5	0	20	0	159	476
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					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.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478																																						ENST00000367615.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V125L(1)	lung(1)	20						c.(373-375)Gta>Ata		nephrosis 2, idiopathic, steroid-resistant (podocin)							68.0	69.0	69.0					1																	179533830		2203	4300	6503	SO:0001583	missense	7827	3	121412	35				g.chr1:179533830C>T	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.373G>A	chr1.hg19:g.179533830C>T	ENSP00000356587:p.Val125Ile	1					NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	p.V125I	NM_014625.2	NP_055440.1	1	2	3	2.190011	Q9NP85	PODO_HUMAN		2	441	-			B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	1	1	hg19	c.373G>A	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617261	0.00828	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99470	-5.96;-5.96	5.46	-2.94	0.05581	5.46	-2.94	0.05581	.	0.267536	0.43416	N	0.000575	D	0.92404	0.7589	N	0.01228	-0.945	0.29344	N	0.86585	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.91621	0.5311	10	0.02654	T	1	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	125	ENSP00000356587:V125I;ENSP00000356588:V125I	ENSP00000356587:V125I	V	-	1	0	0	NPHS2	177800453	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.999880	1	0.170000				46	44		235	234	1		1			0	0	58	0		1	0	0	0	0	0	0	46	235
TDRD5	163589	broad.mit.edu	37	1	179564779	179564779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000367614.1	+	4	1016	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000444136.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	219					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)				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						TTTTTACCCAGCCATTTAGAA	0.393																																						ENST00000367614.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(655-657)caG>caA		tudor domain containing 5							55.0	57.0	56.0					1																	179564779		2203	4300	6503	SO:0001819	synonymous_variant	163589	0	0					g.chr1:179564779G>A	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.657G>A	chr1.hg19:g.179564779G>A		1					TDRD5_ENST00000294848.8_Silent_p.Q219Q|TDRD5_ENST00000444136.1_Silent_p.Q219Q	p.Q219Q	NM_001199091.1	NP_001186020.1	1	2	3	2.190011	Q8NAT2	TDRD5_HUMAN		4	1016	+			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	1	1	hg19	c.657G>A	CCDS1332.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_173533			88	86		250	243	0		1	0		0	0	64	0		1	6.868344e-02	0	0	0	2	0	88	250
TDRD5	163589	broad.mit.edu	37	1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000367614.1	+	16	3055	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	899					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)				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						CCCTCTGGTTCTGGTATGTTT	0.443																																						ENST00000367614.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2695-2697)tCt>tAt		tudor domain containing 5							123.0	103.0	110.0					1																	179638537		2203	4300	6503	SO:0001583	missense	163589	0	0					g.chr1:179638537C>A	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.2696C>A	chr1.hg19:g.179638537C>A	ENSP00000356586:p.Ser899Tyr	1					TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y|TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y	p.S899Y	NM_001199091.1	NP_001186020.1	1	2	3	2.190011	Q8NAT2	TDRD5_HUMAN		16	3055	+			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	1	1	hg19	c.2696C>A	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016016	0.07959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34472	2.51;2.51;2.76;1.36	5.5	3.41	0.39046	5.5	3.41	0.39046	.	0.791726	0.11065	N	0.603555	T	0.30854	0.0778	L	0.54323	1.7	0.28561	N	0.91114	B;B	0.33212	0.402;0.28	B;B	0.29716	0.106;0.049	T	0.33929	-0.9849	10	0.72032	D	0.01	-4.5519	5.5792	0.17241	0.0:0.7273:0.0:0.2727	.	953;899	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	899;899;953;409	ENSP00000356586:S899Y;ENSP00000294848:S899Y;ENSP00000406052:S953Y;ENSP00000410744:S409Y	ENSP00000294848:S899Y	S	+	2	0	0	TDRD5	177905160	177905160	1.000000	0.71417	0.938000	0.37757	0.029000	0.11900	1.229000	0.32600	1.324000	0.45282	-0.143000	0.13931	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_173533			59	57		295	289	0		1	1		0	0	60	0		1	3.354210e-01	0	4	0	3	0	59	295
FAM163A	148753	broad.mit.edu	37	1	179782952	179782952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	44						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637																																						ENST00000341785.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(130-132)gaC>gaT		family with sequence similarity 163, member A							50.0	46.0	47.0					1																	179782952		2203	4300	6503	SO:0001819	synonymous_variant	148753	0	0					g.chr1:179782952C>T	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.132C>T	chr1.hg19:g.179782952C>T		1					RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	p.D44D	NM_173509.2	NP_775780.1	1	2	3	2.190011	Q96GL9	F163A_HUMAN		5	528	+			A8K8R7	Silent	SNP	ENST00000341785.4	1	1	hg19	c.132C>T	CCDS1333.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-5.219293	1	0.170000	NM_173509			90	86		271	260	1		1			0	0	50	0		1	0	0	0	0	0	0	90	271
TOR1AIP2	163590	broad.mit.edu	37	1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448																																						ENST00000367612.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(175-177)Gaa>Taa		torsin A interacting protein 2							160.0	154.0	156.0					1																	179820358		2203	4300	6503	SO:0001587	stop_gained	163590	0	0					g.chr1:179820358C>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.175G>T	chr1.hg19:g.179820358C>A	ENSP00000356584:p.Glu59*	1					TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	p.E59*	NM_145034.4	NP_659471.1	1	2	3	2.190011	Q9H496	IFG15_HUMAN		4	562	-			Q05BU2	Nonsense_Mutation	SNP	ENST00000367612.3	0	1	hg19	c.175G>T	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978373	0.74360	.	.	ENSG00000169905	ENST00000367612	.	.	.	5.14	-8.88	0.00789	5.14	-8.88	0.00789	.	3.756630	0.00582	N	0.000320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	6.5336	9.1746	0.37105	0.1111:0.5317:0.0:0.3572	.	.	.	.	X	59	.	ENSP00000356584:E59X	E	-	1	0	0	TOR1AIP2	178086981	178086981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.196000	0.00276	-1.950000	0.01030	-1.423000	0.01107	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_145034			89	88		487	476	0		1	0		0	0	99	0		1	9.739254e-01	0	1	0	33	0	89	487
CEP350	9857	broad.mit.edu	37	1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	587					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				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						GTTATTTCCAAAAGGCGCCAC	0.443																																						ENST00000367607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1759-1761)aAa>aGa		centrosomal protein 350kDa							52.0	47.0	49.0					1																	179983348		2203	4300	6503	SO:0001583	missense	9857	0	0					g.chr1:179983348A>G	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.1760A>G	chr1.hg19:g.179983348A>G	ENSP00000356579:p.Lys587Arg	1						p.K587R	NM_014810.4	NP_055625.4	1	2	3	2.190011	Q5VT06	CE350_HUMAN		10	2178	+			O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	1	1	hg19	c.1760A>G	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761437	0.89932	.	.	ENSG00000135837	ENST00000367607	D	0.90197	-2.63	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000082	D	0.94850	0.8336	M	0.73598	2.24	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94602	0.7797	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	587;587	E7EU22;Q5VT06	.;CE350_HUMAN	R	587	ENSP00000356579:K587R	.	K	+	2	0	0	CEP350	178249971	178249971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.810000	0.75216	2.251000	0.74343	0.528000	0.53228	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-16.089940	1	0.170000	NM_014810			18	18		51	50	1		1	1		0	0	17	0		9.999926e-01	9.987416e-01	0	12	0	24	0	18	51
CEP350	9857	broad.mit.edu	37	1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1544	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				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						AGAAGTAGCAGTGGTAGCAGC	0.348																																						ENST00000367607.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999918	0.990000	1.000000																										0				66						c.(4630-4632)aGt>aAt		centrosomal protein 350kDa							88.0	91.0	90.0					1																	180017679		2203	4300	6503	SO:0001583	missense	9857	0	0					g.chr1:180017679G>A	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.4631G>A	chr1.hg19:g.180017679G>A	ENSP00000356579:p.Ser1544Asn	1						p.S1544N	NM_014810.4	NP_055625.4	1	2	3	2.190011	Q5VT06	CE350_HUMAN		22	5049	+			O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	1	1	hg19	c.4631G>A	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237742	0.79800	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000090	T	0.61311	0.2337	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.932	D;P	0.70227	0.968;0.476	T	0.57516	-0.7798	9	.	.	.	.	17.271	0.87102	0.0:0.0:1.0:0.0	.	1544;1544	E7EU22;Q5VT06	.;CE350_HUMAN	N	1544	ENSP00000356579:S1544N	.	S	+	2	0	0	CEP350	178284302	178284302	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.413000	0.66399	2.611000	0.88343	0.563000	0.77884	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_014810			32	32		207	204	1		1	1		0	0	62	0		1	9.894106e-01	0	8	0	41	0	32	207
CEP350	9857	broad.mit.edu	37	1	180022124	180022124	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1604					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				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						CTATTGCAACAGAATATTCTC	0.323																																						ENST00000367607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(4810-4812)acA>acG		centrosomal protein 350kDa							60.0	63.0	62.0					1																	180022124		2203	4300	6503	SO:0001819	synonymous_variant	9857	0	0					g.chr1:180022124A>G	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.4812A>G	chr1.hg19:g.180022124A>G		1						p.T1604T	NM_014810.4	NP_055625.4	1	2	3	2.190011	Q5VT06	CE350_HUMAN		23	5230	+			O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	1	1	hg19	c.4812A>G	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	0.266	-0.996455	0.02145	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.13	0.36017	5.62	3.13	0.36017	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.3946	0.26929	0.6782:0.1222:0.0:0.1995	.	.	.	.	G	244	.	.	R	+	1	2	2	CEP350	178288747	178288747	0.992000	0.36948	1.000000	0.80357	0.039000	0.13416	0.374000	0.20501	1.035000	0.39972	-0.323000	0.08544	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_014810			42	41		164	162	1		1	1		0	0	40	0		1	9.982280e-01	0	11	0	30	0	42	164
ARHGEF10L	55160	broad.mit.edu	37	1	18023551	18023551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1172						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		AGGGCATCCTCTTGCAGTACC	0.701																																						ENST00000361221.3	1.000000	0.850000	1	9.200000e-01	0.960000	0.962399	0.960000	0.990000																										0				43						c.(3514-3516)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10-like							21.0	21.0	21.0					1																	18023551		2195	4295	6490	SO:0001819	synonymous_variant	55160	0	0					g.chr1:18023551C>T	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.3516C>T	chr1.hg19:g.18023551C>T		1					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L	p.L1172L	NM_018125.3	NP_060595	0	1	1	1.828421	Q9HCE6	ARGAL_HUMAN		29	3675	+		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)	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	1	1	hg19	c.3516C>T	CCDS182.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_018125			30	30		82	81	1		1	1		0	0	17	0		1	9.997909e-01	0	8	0	33	0	30	82
QSOX1	5768	broad.mit.edu	37	1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367602.3	+	8	1011	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	313					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557																																						ENST00000367602.3	1.000000	0.810000	1	9.600000e-01	0.990000	0.981120	0.990000	1.000000																										1	Substitution - Missense(1)	p.R313W(1)	lung(1)	31						c.(937-939)Cgg>Tgg		quiescin Q6 sulfhydryl oxidase 1							102.0	97.0	98.0					1																	180155237		2203	4300	6503	SO:0001583	missense	5768	0	0					g.chr1:180155237C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.937C>T	chr1.hg19:g.180155237C>T	ENSP00000356574:p.Arg313Trp	1					QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W	p.R313W			1	2	3	2.190011	O00391	QSOX1_HUMAN		8	1011	+			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	1	1	hg19	c.937C>T	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449011	0.84101	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17528	3.46;2.27	5.39	4.42	0.53409	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.87900	2.915	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.924;1.0	T	0.51803	-0.8659	10	0.59425	D	0.04	-23.017	13.817	0.63299	0.1539:0.8461:0.0:0.0	.	313;313;313	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	W	313	ENSP00000356574:R313W;ENSP00000356572:R313W	ENSP00000356572:R313W	R	+	1	2	2	QSOX1	178421860	178421860	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	1.971000	0.40530	2.518000	0.84900	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.879461	1	0.170000	NM_002826			35	34		359	345	1		1	1		0	0	62	0		1	1	0	207	0	1630	0	35	359
XPR1	9213	broad.mit.edu	37	1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	124	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438																																						ENST00000367590.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(370-372)caA>caC		xenotropic and polytropic retrovirus receptor 1							149.0	148.0	149.0					1																	180772672		2203	4300	6503	SO:0001583	missense	9213	0	0					g.chr1:180772672A>C	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.372A>C	chr1.hg19:g.180772672A>C	ENSP00000356562:p.Gln124His	1					XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	p.Q124H	NM_004736.3	NP_004727.2	1	2	3	2.190011	Q9UBH6	XPR1_HUMAN		4	570	+			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	1	1	hg19	c.372A>C	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813707	0.50527	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45276	0.9	5.93	3.63	0.41609	5.93	3.63	0.41609	SPX, N-terminal (2);	0.105520	0.64402	D	0.000004	T	0.24661	0.0598	N	0.17379	0.485	0.49213	D	0.999762	B;B	0.18310	0.027;0.009	B;B	0.19666	0.026;0.014	T	0.04400	-1.0954	10	0.33141	T	0.24	-10.9566	7.4345	0.27148	0.6443:0.0:0.3557:0.0	.	124;124	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	124	ENSP00000356562:Q124H	ENSP00000356561:Q124H	Q	+	3	2	2	XPR1	179039295	179039295	0.566000	0.26618	1.000000	0.80357	0.990000	0.78478	-0.162000	0.10012	0.510000	0.28216	0.482000	0.46254	CAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	0	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_004736			178	175		549	535	1		1	1		0	0	133	0		1	9.999997e-01	0	14	0	53	0	178	549
XPR1	9213	broad.mit.edu	37	1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	289					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388																																						ENST00000367590.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(865-867)aCg>aTg		xenotropic and polytropic retrovirus receptor 1							151.0	145.0	147.0					1																	180793991		2203	4300	6503	SO:0001583	missense	9213	0	0					g.chr1:180793991C>T	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.866C>T	chr1.hg19:g.180793991C>T	ENSP00000356562:p.Thr289Met	1					XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	p.T289M	NM_004736.3	NP_004727.2	1	2	3	2.190011	Q9UBH6	XPR1_HUMAN		8	1064	+			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	1	1	hg19	c.866C>T	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365427	0.61513	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.28192	0.835	0.80722	D	1	P;P	0.46457	0.878;0.472	B;B	0.40901	0.343;0.094	T	0.08066	-1.0740	10	0.37606	T	0.19	-6.6435	19.315	0.94208	0.0:1.0:0.0:0.0	.	289;289	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	289	ENSP00000356562:T289M;ENSP00000356561:T289M	ENSP00000356561:T289M	T	+	2	0	0	XPR1	179060614	179060614	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.338000	0.79269	2.665000	0.90641	0.650000	0.86243	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004736			79	76		242	240	1		1	1		0	0	57	0		1	1	0	25	0	70	0	79	242
XPR1	9213	broad.mit.edu	37	1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	AL590085.1_ENST00000579998.1_RNA|XPR1_ENST00000367589.3_Missense_Mutation_p.A350T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	350					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433																																						ENST00000367590.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1048-1050)Gcc>Acc		xenotropic and polytropic retrovirus receptor 1							189.0	184.0	186.0					1																	180794394		2203	4300	6503	SO:0001583	missense	9213	0	0					g.chr1:180794394G>A	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.1048G>A	chr1.hg19:g.180794394G>A	ENSP00000356562:p.Ala350Thr	1					XPR1_ENST00000367589.3_Missense_Mutation_p.A350T|AL590085.1_ENST00000579998.1_RNA	p.A350T	NM_004736.3	NP_004727.2	1	2	3	2.190011	Q9UBH6	XPR1_HUMAN		9	1246	+			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	1	1	hg19	c.1048G>A	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981401	0.34942	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	5.52	5.52	0.82312	EXS, C-terminal (1);	0.344782	0.32093	N	0.006588	T	0.32585	0.0834	L	0.39566	1.225	0.33990	D	0.649014	B;B	0.22146	0.006;0.065	B;B	0.25759	0.025;0.063	T	0.40942	-0.9536	10	0.37606	T	0.19	-0.4905	7.5937	0.28035	0.2017:0.0:0.7983:0.0	.	350;350	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	350	ENSP00000356562:A350T;ENSP00000356561:A350T	ENSP00000356561:A350T	A	+	1	0	0	XPR1	179061017	179061017	0.857000	0.29778	0.997000	0.53966	0.995000	0.86356	2.800000	0.47900	2.587000	0.87381	0.557000	0.71058	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_004736			214	213		599	590	1		1	1		0	0	136	0		1	1	0	28	0	53	0	214	599
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	670					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473																																						ENST00000367590.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2008-2010)Cgc>Tgc		xenotropic and polytropic retrovirus receptor 1							132.0	126.0	128.0					1																	180849411		2203	4300	6503	SO:0001583	missense	9213	8	121412	39				g.chr1:180849411C>T	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.2008C>T	chr1.hg19:g.180849411C>T	ENSP00000356562:p.Arg670Cys	1					XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	p.R670C	NM_004736.3	NP_004727.2	1	2	3	2.190011	Q9UBH6	XPR1_HUMAN		14	2206	+			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	1	1	hg19	c.2008C>T	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272115	0.80469	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.56	4.64	0.57946	5.56	4.64	0.57946	.	0.047493	0.85682	N	0.000000	T	0.50905	0.1643	L	0.50333	1.59	0.47476	D	0.99943	P;D	0.60160	0.95;0.987	P;B	0.49047	0.599;0.394	T	0.55192	-0.8179	10	0.56958	D	0.05	-2.4789	14.6826	0.69028	0.0:0.9285:0.0:0.0715	.	605;670	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	670;605	ENSP00000356562:R670C	ENSP00000356561:R605C	R	+	1	0	0	XPR1	179116034	179116034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	1.461000	0.47929	0.591000	0.81541	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_004736			95	95		287	279	1		1	1		0	0	83	0		1	1	0	41	0	111	0	95	287
KIAA1614	57710	broad.mit.edu	37	1	180886166	180886166	+	Silent	SNP	C	C	T	rs538856835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	309										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001					ENST00000367588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(925-927)aaC>aaT		KIAA1614							37.0	43.0	41.0					1																	180886166		2009	4180	6189	SO:0001819	synonymous_variant	57710	6	120926	36				g.chr1:180886166C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.927C>T	chr1.hg19:g.180886166C>T		1						p.N309N	NM_020950.1	NP_066001.1	1	2	3	2.190011	Q5VZ46	K1614_HUMAN		2	982	+			Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	1	1	hg19	c.927C>T	CCDS41442.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	XM_046531			61	60		261	254	0		1	0		0	0	42	0		1	2.446564e-01	0	0	0	5	0	61	261
KIAA1614	57710	broad.mit.edu	37	1	180904329	180904329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677																																						ENST00000367588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				33						c.(1282-1284)agC>agT		KIAA1614							11.0	15.0	14.0					1																	180904329		2028	4180	6208	SO:0001819	synonymous_variant	57710	0	0					g.chr1:180904329C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1284C>T	chr1.hg19:g.180904329C>T		1					KIAA1614_ENST00000367587.1_Silent_p.S49S	p.S428S	NM_020950.1	NP_066001.1	1	2	3	2.190011	Q5VZ46	K1614_HUMAN		5	1339	+			Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	1	1	hg19	c.1284C>T	CCDS41442.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	XM_046531			20	20		76	76	1		1	0		0	0	15	0		9.999980e-01	2.059029e-01	0	0	0	4	0	20	76
KIAA1614	57710	broad.mit.edu	37	1	180904637	180904637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	ENST00000367588.4	+	5	1647	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	531										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGGCACCGGGCAGCGAGAGG	0.756																																						ENST00000367588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998601	0.990000	1.000000																										0				33						c.(1591-1593)gGc>gAc		KIAA1614							3.0	5.0	4.0					1																	180904637		1593	3494	5087	SO:0001583	missense	57710	0	0					g.chr1:180904637G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1592G>A	chr1.hg19:g.180904637G>A	ENSP00000356560:p.Gly531Asp	1					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	p.G531D	NM_020950.1	NP_066001.1	1	2	3	2.190011	Q5VZ46	K1614_HUMAN		5	1647	+			Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	0	1	hg19	c.1592G>A	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873767	0.17322	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.22743	2.48;1.94	4.82	-0.878	0.10617	4.82	-0.878	0.10617	.	1.322710	0.05186	N	0.502289	T	0.10594	0.0259	L	0.28274	0.84	0.25097	N	0.990811	B	0.11235	0.004	B	0.09377	0.004	T	0.22906	-1.0203	9	0.06494	T	0.89	-3.6239	1.1462	0.01776	0.4344:0.263:0.1516:0.151	.	531	Q5VZ46	K1614_HUMAN	D	531;152	ENSP00000356560:G531D;ENSP00000356559:G152D	ENSP00000356559:G152D	G	+	2	0	0	KIAA1614	179171260	179171260	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.013000	0.13310	-0.270000	0.09285	0.457000	0.33378	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-20.000000	1	0.170000	XM_046531			11	11		59	57	0		1			0	0	8	0		9.985734e-01	0	0	0	0	0	0	11	59
KIAA1614	57710	broad.mit.edu	37	1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572																																						ENST00000367588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2122-2124)aaG>aaT		KIAA1614							92.0	98.0	96.0					1																	180905169		1997	4178	6175	SO:0001583	missense	57710	0	0					g.chr1:180905169G>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2124G>T	chr1.hg19:g.180905169G>T	ENSP00000356560:p.Lys708Asn	1					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	p.K708N	NM_020950.1	NP_066001.1	1	2	3	2.190011	Q5VZ46	K1614_HUMAN		5	2179	+			Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	1	1	hg19	c.2124G>T	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120431	0.37436	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.4;1.82	4.1	1.11	0.20524	4.1	1.11	0.20524	.	0.967631	0.08516	N	0.934229	T	0.15305	0.0369	L	0.27053	0.805	0.22745	N	0.998786	B	0.24258	0.1	B	0.17433	0.018	T	0.30179	-0.9987	9	0.39692	T	0.17	-4.2637	3.0132	0.06051	0.1042:0.1763:0.5377:0.1818	.	708	Q5VZ46	K1614_HUMAN	N	708;329	ENSP00000356560:K708N;ENSP00000356559:K329N	ENSP00000356559:K329N	K	+	3	2	2	KIAA1614	179171792	179171792	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.504000	0.22626	0.045000	0.15804	-1.086000	0.02197	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	0		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	XM_046531			142	141		627	613	1		1	0		0	0	129	0		1	2.331219e-01	0	0	0	5	0	142	627
MR1	3140	broad.mit.edu	37	1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000282990.6_Missense_Mutation_p.D21N|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	21					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)			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)	GAAGCACAGCGATTCCCGTGA	0.453																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				18						c.(61-63)Gat>Aat		major histocompatibility complex, class I-related	Antithymocyte globulin(DB00098)						137.0	116.0	123.0					1																	181003204		2203	4300	6503	SO:0001583	missense	3140	3	121412	36				g.chr1:181003204G>A	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.61G>A	chr1.hg19:g.181003204G>A	ENSP00000356552:p.Asp21Asn	1					MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N	p.D21N	NM_001531.2	NP_001522.1	1	2	3	2.190011	Q95460	HMR1_HUMAN		1	66	+			A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	1	1	hg19	c.61G>A	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733194	0.15574	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00932	6.12;6.01;5.87;5.53	3.64	-3.93	0.04143	3.64	-3.93	0.04143	.	1.619240	0.03737	N	0.254405	T	0.00784	0.0026	L	0.31065	0.9	0.21290	N	0.999739	B;B;P;B;B	0.46327	0.002;0.002;0.876;0.001;0.001	B;B;B;B;B	0.34652	0.001;0.001;0.187;0.001;0.001	T	0.51371	-0.8714	9	0.23891	T	0.37	.	7.6435	0.28307	0.6424:0.1687:0.189:0.0	.	21;21;21;21;21	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	N	21	ENSP00000388504:D21N;ENSP00000356552:D21N;ENSP00000282990:D21N;ENSP00000356551:D21N	ENSP00000282990:D21N	D	+	1	0	0	MR1	179269827	179269827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-0.986000	0.03498	-1.578000	0.00866	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001531			32	32		176	174	1		1	0		0	0	44	0		1	9.991143e-01	0	0	0	63	0	32	176
MR1	3140	broad.mit.edu	37	1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	183	Alpha-2.|Ligand-binding.				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)			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)	GAAGAAGAATGTATTGCCTGG	0.468																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(547-549)tGt>tAt		major histocompatibility complex, class I-related	Antithymocyte globulin(DB00098)						101.0	101.0	101.0					1																	181019366		2203	4300	6503	SO:0001583	missense	3140	0	0					g.chr1:181019366G>A	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.548G>A	chr1.hg19:g.181019366G>A	ENSP00000356552:p.Cys183Tyr	1					MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y	p.C183Y	NM_001531.2	NP_001522.1	1	2	3	2.190011	Q95460	HMR1_HUMAN		3	553	+			A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	1	1	hg19	c.548G>A	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472613	0.63737	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.99413	7.85;7.85;7.85;-5.86	4.81	3.87	0.44632	4.81	3.87	0.44632	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000004	D	0.99635	0.9866	H	0.96805	3.885	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	10.0672	0.42311	0.1034:0.0:0.8966:0.0	.	183;183;138;183;183	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	Y	183;183;183;138	ENSP00000388504:C183Y;ENSP00000356552:C183Y;ENSP00000282990:C183Y;ENSP00000356551:C138Y	ENSP00000282990:C183Y	C	+	2	0	0	MR1	179285989	179285989	0.998000	0.40836	0.992000	0.48379	0.870000	0.49936	2.947000	0.49058	1.174000	0.42811	0.557000	0.71058	TGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_001531			70	70		367	361	1		1	1		0	0	94	0		1	9.999985e-01	0	2	0	101	0	70	367
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D56Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|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;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572																																						ENST00000375406.1	0.340000	0.110000	2.800000e-01	1.500000e-01	0.210000	0.222499	0.210000	0.210000																										1	Substitution - Missense(1)	p.D56Y(1)	large_intestine(1)	28						c.(166-168)Gac>Aac		actin-like 8							134.0	119.0	124.0					1																	18149669		2203	4300	6503	SO:0001583	missense	81569	0	0					g.chr1:18149669G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.166G>A	chr1.hg19:g.18149669G>A	ENSP00000364555:p.Asp56Asn	1						p.D56N	NM_030812.2	NP_110439.2	0	1	1	1.828421	Q9H568	ACTL8_HUMAN		2	382	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	0	1	hg19	c.166G>A	CCDS183.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.218870	0.95104	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.98	0.75	0.18387	4.98	0.75	0.18387	.	0.337294	0.21390	N	0.075327	D	0.87857	0.6283	L	0.43152	1.355	0.21627	N	0.999612	B	0.18968	0.032	B	0.17979	0.02	T	0.79827	-0.1639	10	0.87932	D	0	-46.8186	6.0606	0.19837	0.4579:0.0:0.5421:0.0	.	56	Q9H568	ACTL8_HUMAN	N	56	ENSP00000364555:D56N	ENSP00000364555:D56N	D	+	1	0	0	ACTL8	18022256	18022256	0.999000	0.42202	0.777000	0.31699	0.724000	0.41520	3.131000	0.50515	0.294000	0.22547	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	0	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-2.686492	1	0.170000	NM_030812			12	12		605	597	0		1			0	0	127	0		9.990523e-01	0	0	0	0	0	0	12	605
MR1	3140	broad.mit.edu	37	1	181021609	181021609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	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)			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)	GTCATGTGGAGCACTGCGGTG	0.547																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999044	0.990000	1.000000																										0				18						c.(841-843)gaG>gaA		major histocompatibility complex, class I-related	Antithymocyte globulin(DB00098)						60.0	65.0	63.0					1																	181021609		2203	4300	6503	SO:0001819	synonymous_variant	3140	0	0					g.chr1:181021609G>A	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.843G>A	chr1.hg19:g.181021609G>A		1					MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000282990.6_Intron	p.E281E	NM_001531.2	NP_001522.1	1	2	3	2.190011	Q95460	HMR1_HUMAN		4	848	+			A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	1	1	hg19	c.843G>A	CCDS1342.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_001531			31	30		237	237	1		1	0		0	0	59	0		1	9.436306e-01	0	1	0	38	0	31	237
CACNA1E	777	broad.mit.edu	37	1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000367573.2	+	7	1019	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	340					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)			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						ATTGGATCCTTCTTTGTTCTC	0.438																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(1018-1020)tTc>tAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							198.0	189.0	192.0					1																	181620541		1925	4133	6058	SO:0001583	missense	777	0	0					g.chr1:181620541T>A	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.1019T>A	chr1.hg19:g.181620541T>A	ENSP00000356545:p.Phe340Tyr	1					CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y	p.F340Y	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		7	1019	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	1	1	hg19	c.1019T>A	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090601	0.76756	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.86420	2.815	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	D	0.99418	1.0932	10	0.56958	D	0.05	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	340;340	Q15878-2;Q15878-3	.;.	Y	340;340;340;291;291;340;340	ENSP00000432038:F340Y;ENSP00000356542:F340Y;ENSP00000434814:F340Y;ENSP00000350183:F291Y;ENSP00000351101:F291Y;ENSP00000353222:F340Y;ENSP00000356545:F340Y	ENSP00000350183:F291Y	F	+	2	0	0	CACNA1E	179887164	179887164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.062000	0.61559	0.460000	0.39030	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_000721			78	78		438	428	1		1	0		0	0	82	0		1	1.134835e-01	0	0	0	4	0	78	438
CACNA1E	777	broad.mit.edu	37	1	181687258	181687258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181687258G>A	ENST00000367573.2	+	12	1593	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000526775.1_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	531					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)			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						ATGGCATGGGGCCTCGCCTTT	0.463																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(1591-1593)ggG>ggA		calcium channel, voltage-dependent, R type, alpha 1E subunit							113.0	107.0	109.0					1																	181687258		1898	4121	6019	SO:0001819	synonymous_variant	777	3	120850	30				g.chr1:181687258G>A	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.1593G>A	chr1.hg19:g.181687258G>A		1					CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000526775.1_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367570.1_Silent_p.G531G	p.G531G	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		12	1593	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	0	1	hg19	c.1593G>A	CCDS55664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	0	0	0		16	2	2	1		1	1	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_000721			33	33		135	132	0		1	0		1	0	35	0		9.967162e-01	0	0	0	0	1	0	33	135
CACNA1E	777	broad.mit.edu	37	1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T	rs375559507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000367573.2	+	17	2078	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	693					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)			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						ACCCCAGACACGCTACTGAAT	0.463																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(2077-2079)aCg>aTg		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	MET/THR,MET/THR,MET/THR	0,3944		0,0,1972	135.0	124.0	128.0		2078,2078,2078	4.9	0.9	1		128	1,8313		0,1,4156	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	81,81,81	0,1,6128	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging	693/2271,693/2314,693/2252	181693609	1,12257	1972	4157	6129	SO:0001583	missense	777	1	120908	23				g.chr1:181693609C>T	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.2078C>T	chr1.hg19:g.181693609C>T	ENSP00000356545:p.Thr693Met	1					CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M	p.T693M	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		17	2078	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	1	1	hg19	c.2078C>T	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670172	0.67814	0.0	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56280	1.765	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.57371	0.819;0.819	D	0.99047	1.0826	10	0.62326	D	0.03	.	17.9496	0.89048	0.0:1.0:0.0:0.0	.	693;693	Q15878-2;Q15878-3	.;.	M	693;693;644;644;300;693;693	ENSP00000356542:T693M;ENSP00000434814:T693M;ENSP00000350183:T644M;ENSP00000351101:T644M;ENSP00000356539:T300M;ENSP00000353222:T693M;ENSP00000356545:T693M	ENSP00000350183:T644M	T	+	2	0	0	CACNA1E	179960232	179960232	1.000000	0.71417	0.878000	0.34440	0.861000	0.49209	5.945000	0.70226	2.390000	0.81377	0.462000	0.41574	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_000721			23	23		79	79	1		1	0		0	0	22	0		9.999998e-01	0	0	0	0	1	0	23	79
CACNA1E	777	broad.mit.edu	37	1	181693628	181693628	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000367573.2	+	17	2097	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000526775.1_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	699					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)			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						ATGTGTTCTTGGCTATCGCTG	0.463																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				204						c.(2095-2097)ttG>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							141.0	131.0	134.0					1																	181693628		1981	4170	6151	SO:0001819	synonymous_variant	777	0	0					g.chr1:181693628G>A	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.2097G>A	chr1.hg19:g.181693628G>A		1					CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000526775.1_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367570.1_Silent_p.L699L	p.L699L	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		17	2097	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	1	1	hg19	c.2097G>A	CCDS55664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-12.315180	1	0.170000	NM_000721			17	17		79	79	1		1	0		0	0	19	0		9.999808e-01	0	0	0	0	1	0	17	79
CACNA1E	777	broad.mit.edu	37	1	181701985	181701985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000367573.2	+	20	2763	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000526775.1_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	921					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)			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						AACGGCGCAGCCGGCATCGCC	0.647																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999161	0.990000	1.000000																										0				204						c.(2761-2763)agC>agT		calcium channel, voltage-dependent, R type, alpha 1E subunit							54.0	63.0	60.0					1																	181701985		2125	4249	6374	SO:0001819	synonymous_variant	777	0	0					g.chr1:181701985C>T	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.2763C>T	chr1.hg19:g.181701985C>T		1					CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000526775.1_Silent_p.S902S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367570.1_Silent_p.S921S	p.S921S	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		20	2763	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	1	1	hg19	c.2763C>T	CCDS55664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	0		2	2	2	0		0	0	99		99	98	1	2.060000	-19.705130	1	0.170000	NM_000721			65	64		578	569	1		1	0		0	0	99	0		1	0	0	0	0	1	0	65	578
CACNA1E	777	broad.mit.edu	37	1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000367573.2	+	20	2933	c.2933C>A	c.(2932-2934)gCc>gAc	p.A978D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	978					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.A978D(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						GAAGAGAGAGCCCAGGATTTA	0.542																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999952	0.990000	1.000000																										1	Substitution - Missense(1)	p.A978D(1)	lung(1)	204						c.(2932-2934)gCc>gAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							38.0	44.0	42.0					1																	181702155		2085	4217	6302	SO:0001583	missense	777	0	0					g.chr1:181702155C>A	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.2933C>A	chr1.hg19:g.181702155C>A	ENSP00000356545:p.Ala978Asp	1					CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A959D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D	p.A978D	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		20	2933	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	1	1	hg19	c.2933C>A	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197918	0.09652	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.85;-3.86;-3.86;-3.86;-3.92;-3.87;-3.86	4.03	1.06	0.20224	4.03	1.06	0.20224	.	2.114420	0.03186	U	0.172771	D	0.88418	0.6431	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.005;0.032	B;B;B	0.18871	0.023;0.015;0.023	T	0.79524	-0.1768	10	0.11485	T	0.65	.	9.042	0.36322	0.0:0.3528:0.5552:0.092	.	959;978;978	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	978;959;929;910;585;959;978	ENSP00000356542:A978D;ENSP00000434814:A959D;ENSP00000350183:A929D;ENSP00000351101:A910D;ENSP00000356539:A585D;ENSP00000353222:A959D;ENSP00000356545:A978D	ENSP00000350183:A929D	A	+	2	0	0	CACNA1E	179968778	179968778	0.000000	0.05858	0.009000	0.14445	0.594000	0.36715	-0.289000	0.08365	0.246000	0.21394	0.555000	0.69702	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.327913	1	0.170000	NM_000721			29	28		174	171	0		1			0	0	30	0		1	0	0	0	0	0	0	29	174
CACNA1E	777	broad.mit.edu	37	1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000367573.2	+	34	4789	c.4789C>A	c.(4789-4791)Ctg>Atg	p.L1597M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1597					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)			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						ACGCATTTTGCTGTGGACCTT	0.498																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(4789-4791)Ctg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							61.0	60.0	60.0					1																	181732641		1892	4124	6016	SO:0001583	missense	777	0	0					g.chr1:181732641C>A	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.4789C>A	chr1.hg19:g.181732641C>A	ENSP00000356545:p.Leu1597Met	1					CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1578M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M	p.L1597M	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		34	4789	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	1	1	hg19	c.4789C>A	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316400	0.81469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.28	4.36	0.52297	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.98630	1.0671	10	0.66056	D	0.02	.	13.9604	0.64175	0.0:0.924:0.0:0.076	.	1578;1597;1597	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1597;1578;1548;1529;1204;1578;1597	ENSP00000356542:L1597M;ENSP00000434814:L1578M;ENSP00000350183:L1548M;ENSP00000351101:L1529M;ENSP00000356539:L1204M;ENSP00000353222:L1578M;ENSP00000356545:L1597M	ENSP00000350183:L1548M	L	+	1	2	2	CACNA1E	179999264	179999264	1.000000	0.71417	0.597000	0.28824	0.956000	0.61745	3.673000	0.54591	2.471000	0.83476	0.467000	0.42956	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	52		52	48	1	2.060000	-20.000000	1	0.170000	NM_000721			33	30		156	153	1		1	0		0	0	52	0		1	0	0	0	0	1	0	33	156
CACNA1E	777	broad.mit.edu	37	1	181741352	181741352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000367573.2	+	37	5124	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000526775.1_Silent_p.F1689F|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.F1640F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1708					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)			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						CCTTCATCTTCTTCTGCTCCT	0.537																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(5122-5124)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit							207.0	206.0	206.0					1																	181741352		2184	4273	6457	SO:0001819	synonymous_variant	777	0	0					g.chr1:181741352C>T	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.5124C>T	chr1.hg19:g.181741352C>T		1					CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000526775.1_Silent_p.F1689F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367570.1_Silent_p.F1708F	p.F1708F	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		37	5124	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	1	1	hg19	c.5124C>T	CCDS55664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-20.000000	1	0.170000	NM_000721			190	188		565	553	0		1	0		0	0	124	0		1	0	0	0	0	1	0	190	565
CACNA1E	777	broad.mit.edu	37	1	181762906	181762906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	ENST00000367573.2	+	45	6004	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1953S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2002					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)			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						ATCTTCTATGCCACGTCTGAC	0.483																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(6004-6006)Cca>Tca		calcium channel, voltage-dependent, R type, alpha 1E subunit							33.0	30.0	31.0					1																	181762906		876	1991	2867	SO:0001583	missense	777	0	0					g.chr1:181762906C>T	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.6004C>T	chr1.hg19:g.181762906C>T	ENSP00000356545:p.Pro2002Ser	1					CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1953S|CACNA1E_ENST00000367570.1_Intron	p.P2002S	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		45	6004	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	1	1	hg19	c.6004C>T	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035955	0.93630	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.99557	-6.15;-6.15;-6.16	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.264086	0.37623	N	0.002001	D	0.99227	0.9731	L	0.42245	1.32	0.80722	D	1	.	.	.	.	.	.	D	0.99841	1.1062	8	0.62326	D	0.03	.	19.6581	0.95851	0.0:1.0:0.0:0.0	.	.	.	.	S	1953;1983;2002	ENSP00000350183:P1953S;ENSP00000353222:P1983S;ENSP00000356545:P2002S	ENSP00000350183:P1953S	P	+	1	0	0	CACNA1E	180029529	180029529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.735000	0.93741	0.655000	0.94253	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_000721			22	22		68	68	1		1			0	0	23	0		9.999996e-01	0	0	0	0	0	0	22	68
CACNA1E	777	broad.mit.edu	37	1	181767892	181767892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000367573.2	+	48	6864	c.6864C>T	c.(6862-6864)cgC>cgT	p.R2288R	CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000526775.1_Silent_p.R2226R|CACNA1E_ENST00000358338.5_Silent_p.R2177R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2288	Poly-Arg.				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)			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						GGCGGAGGCGCGGGGGGCCTG	0.647																																						ENST00000367573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				204						c.(6862-6864)cgC>cgT		calcium channel, voltage-dependent, R type, alpha 1E subunit							14.0	17.0	16.0					1																	181767892		1966	4140	6106	SO:0001819	synonymous_variant	777	2	120666	29				g.chr1:181767892C>T	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.6864C>T	chr1.hg19:g.181767892C>T		1					CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000526775.1_Silent_p.R2226R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367570.1_Silent_p.R2245R	p.R2288R	NM_001205293.1	NP_001192222.1	1	2	3	2.190011	Q15878	CAC1E_HUMAN		48	6864	+			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	1	1	hg19	c.6864C>T	CCDS55664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1		2	2	2	0		0	0	24		24	22	1	2.060000	-6.147873	1	0.170000	NM_000721			41	39		93	90	1		1			0	0	24	0		1	0	0	0	0	0	0	41	93
ZNF648	127665	broad.mit.edu	37	1	182026331	182026331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	ENST00000339948.3	-	2	1022	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	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)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCGCCGCCGCGCGTCTCCGC	0.751																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(814-816)cGc>cAc		zinc finger protein 648							8.0	9.0	8.0					1																	182026331		2135	4137	6272	SO:0001583	missense	127665	0	0					g.chr1:182026331C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.815G>A	chr1.hg19:g.182026331C>T	ENSP00000344129:p.Arg272His	1						p.R272H	NM_001009992.1	NP_001009992.1	1	2	3	2.190011	Q5T619	ZN648_HUMAN		2	1022	-			B2RP16	Missense_Mutation	SNP	ENST00000339948.3	1	1	hg19	c.815G>A	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152330	0.06585	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	2.55	-2.26	0.06867	2.55	-2.26	0.06867	.	.	.	.	.	T	0.01124	0.0037	N	0.00166	-1.94	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41980	-0.9478	9	0.02654	T	1	.	1.1703	0.01824	0.1593:0.2618:0.3501:0.2288	.	272	Q5T619	ZN648_HUMAN	H	272	ENSP00000344129:R272H	ENSP00000344129:R272H	R	-	2	0	0	ZNF648	180292954	180292954	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.012000	0.13287	-0.531000	0.06340	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	XM_060597			19	19		66	60	0		1			0	0	13	0		9.999921e-01	0	0	0	0	0	0	19	66
ZNF648	127665	broad.mit.edu	37	1	182026618	182026618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(526-528)gcG>gcA		zinc finger protein 648							66.0	69.0	68.0					1																	182026618		2203	4300	6503	SO:0001819	synonymous_variant	127665	0	0					g.chr1:182026618C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.528G>A	chr1.hg19:g.182026618C>T		1						p.A176A	NM_001009992.1	NP_001009992.1	1	2	3	2.190011	Q5T619	ZN648_HUMAN		2	735	-			B2RP16	Silent	SNP	ENST00000339948.3	1	1	hg19	c.528G>A	CCDS30952.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.395304	1	0.170000	XM_060597			44	43		209	204	1		1			0	0	37	0		1	0	0	0	0	0	0	44	209
RNASEL	6041	broad.mit.edu	37	1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D|RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	262	2-5A binding (P-loop) 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502																																						ENST00000367559.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.990738	0.990000	1.000000																										0				27						c.(784-786)gaG>gaT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							82.0	78.0	79.0					1																	182555156		2203	4300	6503	SO:0001583	missense	6041	0	0					g.chr1:182555156C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.786G>T	chr1.hg19:g.182555156C>A	ENSP00000356530:p.Glu262Asp	1					RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	p.E262D	NM_021133.3	NP_066956.1	1	2	3	2.190011	Q05823	RN5A_HUMAN		2	1039	-			Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	1	1	hg19	c.786G>T	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735904	0.30774	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.15	-4.82	0.03171	5.15	-4.82	0.03171	Ankyrin repeat-containing domain (4);	0.914573	0.09413	N	0.805560	T	0.34164	0.0888	N	0.12961	0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.16100	-1.0414	10	0.22109	T	0.4	-4.56	4.0995	0.10007	0.1394:0.5038:0.0876:0.2692	.	262;262;262	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	D	262	ENSP00000356530:E262D;ENSP00000411147:E262D;ENSP00000440844:E262D	ENSP00000356530:E262D	E	-	3	2	2	RNASEL	180821779	180821779	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.075000	0.03423	-0.543000	0.06240	0.557000	0.71058	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_021133			41	41		400	396	0		1	0		0	0	73	0		1	9.008840e-01	0	0	0	41	0	41	400
RGS8	85397	broad.mit.edu	37	1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					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)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(160-162)gCa>gTa		regulator of G-protein signaling 8							170.0	170.0	170.0					1																	182635136		2203	4300	6503	SO:0001583	missense	85397	0	0					g.chr1:182635136G>A	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.161C>T	chr1.hg19:g.182635136G>A	ENSP00000426289:p.Ala54Val	1					RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000367556.1_Missense_Mutation_p.A54V	p.A54V			1	2	3	2.190011	P57771	RGS8_HUMAN		5	418	-			B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	1	1	hg19	c.161C>T	CCDS41443.1	1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220884	0.58560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.47	5.47	0.80525	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.32615	0.0835	L	0.61218	1.895	0.44862	D	0.997874	B;P	0.39424	0.398;0.673	B;B	0.37480	0.047;0.251	T	0.17228	-1.0376	10	0.66056	D	0.02	.	12.5654	0.56306	0.0:0.1673:0.8327:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	V	54;72;54;54;54	ENSP00000426289:A54V;ENSP00000258302:A72V;ENSP00000356528:A54V;ENSP00000356527:A54V	ENSP00000258302:A72V	A	-	2	0	0	RGS8	180901759	180901759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.191000	0.58372	2.561000	0.86390	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	0	0	1		2	2	2	0		0	0	146		146	144	1	2.060000	-20.000000	1	0.170000	NM_033345			114	112		575	568	1		1			0	0	146	0		1	0	0	0	0	0	0	114	575
DHX9	1660	broad.mit.edu	37	1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					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)			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						AGACTGCATTCAGATGACCCA	0.383																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1738-1740)Cag>Tag		DEAH (Asp-Glu-Ala-His) box helicase 9							128.0	132.0	131.0					1																	182844012		1876	4109	5985	SO:0001587	stop_gained	1660	0	0					g.chr1:182844012C>T	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.1738C>T	chr1.hg19:g.182844012C>T	ENSP00000356520:p.Gln580*	1						p.Q580*	NM_001357.4	NP_001348.2	1	2	3	2.190011	Q08211	DHX9_HUMAN		16	1848	+			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	0	1	hg19	c.1738C>T	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.829393	0.98513	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	580	.	ENSP00000356520:Q580X	Q	+	1	0	0	DHX9	181110635	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-20.000000	1	0.170000	NM_030588			138	134		423	412	1		1	1		0	0	124	0		1	1	0	6	0	237	0	138	423
DHX9	1660	broad.mit.edu	37	1	182846018	182846018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	726	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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						ACGATGTTGTTTATGTCATTG	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2176-2178)gtT>gtG		DEAH (Asp-Glu-Ala-His) box helicase 9							70.0	63.0	65.0					1																	182846018		1839	4097	5936	SO:0001819	synonymous_variant	1660	0	0					g.chr1:182846018T>G	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.2178T>G	chr1.hg19:g.182846018T>G		1						p.V726V	NM_001357.4	NP_001348.2	1	2	3	2.190011	Q08211	DHX9_HUMAN		19	2288	+			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	1	1	hg19	c.2178T>G	CCDS41444.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_030588			49	48		192	186	1		1	1		0	0	52	0		1	1	0	4	0	255	0	49	192
DHX9	1660	broad.mit.edu	37	1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	764	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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						ACGGAAAGGGCGAGCTGGCCG	0.473																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2290-2292)Cga>Tga		DEAH (Asp-Glu-Ala-His) box helicase 9							94.0	89.0	91.0					1																	182847247		1940	4144	6084	SO:0001587	stop_gained	1660	0	0					g.chr1:182847247C>T	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.2290C>T	chr1.hg19:g.182847247C>T	ENSP00000356520:p.Arg764*	1					DHX9_ENST00000485081.1_3'UTR	p.R764*	NM_001357.4	NP_001348.2	1	2	3	2.190011	Q08211	DHX9_HUMAN		20	2400	+			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	0	1	hg19	c.2290C>T	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.420901	0.98803	.	.	ENSG00000135829	ENST00000367549	.	.	.	5.78	3.87	0.44632	5.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.062	0.47953	0.4634:0.4233:0.1132:0.0	.	.	.	.	X	764	.	ENSP00000356520:R764X	R	+	1	2	2	DHX9	181113870	181113870	0.868000	0.29978	0.794000	0.32065	0.971000	0.66376	1.706000	0.37878	0.743000	0.32719	-0.169000	0.13324	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.198232	1	0.170000	NM_030588			60	60		285	281	1		1	1		0	0	71	0		1	1	0	7	0	280	0	60	285
DHX9	1660	broad.mit.edu	37	1	182850546	182850546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	924					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)			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						TATTCCAAGCCTGGGATGATG	0.403																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3	1.000000	0.780000	1	8.800000e-01	0.990000	0.958943	0.990000	1.000000																										0				49						c.(2770-2772)gcC>gcT		DEAH (Asp-Glu-Ala-His) box helicase 9							143.0	133.0	137.0					1																	182850546		1859	4103	5962	SO:0001819	synonymous_variant	1660	0	0					g.chr1:182850546C>T	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.2772C>T	chr1.hg19:g.182850546C>T		1					DHX9_ENST00000485081.1_3'UTR	p.A924A	NM_001357.4	NP_001348.2	1	2	3	2.190011	Q08211	DHX9_HUMAN		23	2882	+			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	1	1	hg19	c.2772C>T	CCDS41444.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-14.977460	1	0.170000	NM_030588			70	69		822	806	1		1	1		0	0	140	0		1	1	0	70	0	277	0	70	822
DHX9	1660	broad.mit.edu	37	1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					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)			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						CACTGAAGGGCGTAATGCACT	0.393																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3052-3054)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 9							140.0	119.0	125.0					1																	182852411		1905	4124	6029	SO:0001583	missense	1660	0	0					g.chr1:182852411C>T	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.3052C>T	chr1.hg19:g.182852411C>T	ENSP00000356520:p.Arg1018Cys	1					DHX9_ENST00000485081.1_3'UTR	p.R1018C	NM_001357.4	NP_001348.2	1	2	3	2.190011	Q08211	DHX9_HUMAN		25	3162	+			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	1	1	hg19	c.3052C>T	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	0	DHX9	181119034	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_030588			71	70		318	311	1		1	1		0	0	78	0		1	1	0	80	0	154	0	71	318
LAMC1	3915	broad.mit.edu	37	1	183093910	183093910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183093910G>A	ENST00000258341.4	+	14	2803	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	849	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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						ACGGGAGAATGCCTGAAGTGC	0.502																																						ENST00000258341.4	0.620000	0.160000	4.900000e-01	2.400000e-01	0.350000	0.371419	0.350000	0.330000																										0				76						c.(2545-2547)tGc>tAc		laminin, gamma 1 (formerly LAMB2)							107.0	91.0	97.0					1																	183093910		2203	4300	6503	SO:0001583	missense	3915	0	0					g.chr1:183093910G>A	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.2546G>A	chr1.hg19:g.183093910G>A	ENSP00000258341:p.Cys849Tyr	1						p.C849Y	NM_002293.3	NP_002284.3	1	2	3	2.190011	P11047	LAMC1_HUMAN		14	2803	+			Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	0	1	hg19	c.2546G>A	CCDS1351.1	0	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709702	0.89018	.	.	ENSG00000135862	ENST00000258341	D	0.94330	-3.4	5.51	5.51	0.81932	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	849	P11047	LAMC1_HUMAN	Y	849	ENSP00000258341:C849Y	ENSP00000258341:C849Y	C	+	2	0	0	LAMC1	181360533	181360533	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.135000	0.94478	2.587000	0.87381	0.650000	0.86243	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	0	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-8.762991	1	0.170000	NM_002293			8	8		296	295	0		1	1		0	0	38	0		9.894767e-01	9.885806e-01	0	2	0	295	0	8	296
LAMC1	3915	broad.mit.edu	37	1	183103869	183103869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183103869G>T	ENST00000258341.4	+	23	4181	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1308	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)			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						AAGATTATGAGGACCTCAGAG	0.403																																						ENST00000258341.4	0.450000	0.120000	3.600000e-01	1.800000e-01	0.260000	0.277317	0.260000	0.240000																										0				76						c.(3922-3924)gaG>gaT		laminin, gamma 1 (formerly LAMB2)							100.0	111.0	107.0					1																	183103869		2203	4300	6503	SO:0001583	missense	3915	0	0					g.chr1:183103869G>T	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.3924G>T	chr1.hg19:g.183103869G>T	ENSP00000258341:p.Glu1308Asp	1						p.E1308D	NM_002293.3	NP_002284.3	1	2	3	2.190011	P11047	LAMC1_HUMAN		23	4181	+			Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	0	1	hg19	c.3924G>T	CCDS1351.1	0	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527988	0.44969	.	.	ENSG00000135862	ENST00000258341	T	0.77098	-1.07	5.64	1.6	0.23607	5.64	1.6	0.23607	.	0.195971	0.53938	N	0.000060	T	0.64560	0.2609	L	0.54323	1.7	0.44295	D	0.997167	B	0.26318	0.146	B	0.24974	0.057	T	0.48864	-0.8997	10	0.17832	T	0.49	.	3.2277	0.06737	0.4213:0.0:0.4006:0.1781	.	1308	P11047	LAMC1_HUMAN	D	1308	ENSP00000258341:E1308D	ENSP00000258341:E1308D	E	+	3	2	2	LAMC1	181370492	181370492	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.490000	0.22403	0.297000	0.22615	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	0	0	0		2	2	2	0		0	0	99		99	98	1	2.060000	-2.278233	0	0.170000	NM_002293			9	9		446	441	0		1	1		0	0	99	0		9.940211e-01	9.928090e-01	0	5	0	426	0	9	446
LAMC2	3918	broad.mit.edu	37	1	183194779	183194779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183194779G>T	ENST00000264144.4	+	8	1055	c.990G>T	c.(988-990)caG>caT	p.Q330H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	330	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)			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						GGAGCCCCCAGCTGAGTTACT	0.393																																						ENST00000264144.4	0.340000	0.110000	2.800000e-01	1.500000e-01	0.210000	0.220817	0.210000	0.210000																										0				55						c.(988-990)caG>caT		laminin, gamma 2							108.0	119.0	115.0					1																	183194779		2203	4300	6503	SO:0001583	missense	3918	0	0					g.chr1:183194779G>T	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.990G>T	chr1.hg19:g.183194779G>T	ENSP00000264144:p.Gln330His	1					LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	p.Q330H	NM_005562.2	NP_005553.2	1	2	3	2.190011	Q13753	LAMC2_HUMAN		8	1055	+			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	0	1	hg19	c.990G>T	CCDS1352.1	0	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872561	0.33069	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.36699	1.24;1.24	5.06	4.14	0.48551	5.06	4.14	0.48551	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.395784	0.24094	N	0.041619	T	0.27205	0.0667	L	0.37630	1.12	0.46260	D	0.99895	B;B;B	0.20550	0.046;0.046;0.037	B;B;B	0.23018	0.043;0.042;0.025	T	0.05784	-1.0864	10	0.35671	T	0.21	.	8.4894	0.33091	0.0775:0.0:0.7704:0.1521	.	330;330;330	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	330	ENSP00000432063:Q330H;ENSP00000264144:Q330H	ENSP00000264144:Q330H	Q	+	3	2	2	LAMC2	181461402	181461402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.743000	0.47442	1.124000	0.41980	-0.136000	0.14681	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	0	0	0		2	2	2	0		0	0	134		134	133	1	2.060000	-2.720717	1	0.170000	NM_005562			13	12		791	780	0		1	1		0	0	134	0		9.994828e-01	9.961148e-01	0	17	0	545	0	13	791
LAMC2	3918	broad.mit.edu	37	1	183200178	183200178	+	Silent	SNP	C	C	T	rs370673817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	599	Laminin EGF-like 8; truncated. {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)			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						GATTTGGTGGCCCCAACTGTG	0.498																																						ENST00000264144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1795-1797)ggC>ggT		laminin, gamma 2							199.0	174.0	183.0					1																	183200178		2203	4300	6503	SO:0001819	synonymous_variant	3918	3	121412	39				g.chr1:183200178C>T	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.1797C>T	chr1.hg19:g.183200178C>T		1					LAMC2_ENST00000493293.1_Silent_p.G599G	p.G599G	NM_005562.2	NP_005553.2	1	2	3	2.190011	Q13753	LAMC2_HUMAN		12	1862	+			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	1	1	hg19	c.1797C>T	CCDS1352.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.241186	1	0.170000	NM_005562			64	65		324	312	1		1	1		0	0	93	0		1	1	0	304	0	470	0	64	324
LAMC2	3918	broad.mit.edu	37	1	183212466	183212466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1171	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)			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						CTGATGTGAAGAACTTGGAGA	0.522																																						ENST00000264144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3511-3513)aaG>aaA		laminin, gamma 2							105.0	102.0	103.0					1																	183212466		2203	4300	6503	SO:0001819	synonymous_variant	3918	0	0					g.chr1:183212466G>A	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.3513G>A	chr1.hg19:g.183212466G>A		1						p.K1171K	NM_005562.2	NP_005553.2	1	2	3	2.190011	Q13753	LAMC2_HUMAN		23	3578	+			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	1	1	hg19	c.3513G>A	CCDS1352.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_005562			100	98		365	361	0		1	1		0	0	114	0		1	1	0	382	0	712	0	100	365
SMG7	9887	broad.mit.edu	37	1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000347615.2	+	15	2023	c.1904C>T	c.(1903-1905)aCt>aTt	p.T635I	SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000367537.3_Missense_Mutation_p.T618I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	635					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)			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						ACACCTGTAACTCAAACCCCA	0.423																																						ENST00000347615.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1903-1905)aCt>aTt		SMG7 nonsense mediated mRNA decay factor							126.0	117.0	120.0					1																	183513549		2203	4300	6503	SO:0001583	missense	9887	0	0					g.chr1:183513549C>T	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.1904C>T	chr1.hg19:g.183513549C>T	ENSP00000340766:p.Thr635Ile	1					SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000367537.3_Missense_Mutation_p.T618I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I	p.T635I	NM_173156.2	NP_775179.1	1	2	3	2.190011	Q92540	SMG7_HUMAN		15	2023	+			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	1	1	hg19	c.1904C>T	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221780	0.79464	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.095984	0.64402	D	0.000001	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.998;0.998;0.999;0.999;0.624	D;D;D;D;D;B	0.80764	0.991;0.987;0.987;0.994;0.991;0.206	T	0.61997	-0.6947	10	0.44086	T	0.13	-4.6888	20.2985	0.98592	0.0:1.0:0.0:0.0	.	593;618;547;589;635;589	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	547;618;593;547;635;589;589	ENSP00000407629:T547I;ENSP00000356507:T618I;ENSP00000426915:T593I;ENSP00000388390:T547I;ENSP00000340766:T635I;ENSP00000425133:T589I;ENSP00000421358:T589I	ENSP00000340766:T635I	T	+	2	0	0	SMG7	181780172	181780172	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.507000	0.66999	2.793000	0.96121	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_014837			140	138		358	347	1		1	1		0	0	93	0		1	1	0	43	0	107	0	140	358
NCF2	4688	broad.mit.edu	37	1	183532664	183532664	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000367535.3	-	12	1334	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_ENST00000413720.1_Silent_p.T316T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000469280.1_5'UTR	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCATGACTACCGTGTACTTGT	0.552																																						ENST00000367535.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1081-1083)acG>acA		neutrophil cytosolic factor 2	Dextromethorphan(DB00514)						124.0	110.0	114.0					1																	183532664		2203	4300	6503	SO:0001819	synonymous_variant	4688	2	121412	40				g.chr1:183532664C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1083G>A	chr1.hg19:g.183532664C>T		1					NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000413720.1_Silent_p.T316T	p.T361T	NM_000433.3	NP_000424.2	1	2	3	2.190011	P19878	NCF2_HUMAN		12	1334	-			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	1	1	hg19	c.1083G>A	CCDS1356.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-2.341666	0	0.170000	NM_000433			109	106		592	579	1		1	1		0	0	136	0		1	1	0	4	0	140	0	109	592
NCF2	4688	broad.mit.edu	37	1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000367535.3	-	3	591	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000413720.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	114					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGAACTGGAGCCCCAGGATC	0.517																																						ENST00000367535.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(340-342)Ctc>Atc		neutrophil cytosolic factor 2	Dextromethorphan(DB00514)						104.0	103.0	104.0					1																	183546760		2203	4300	6503	SO:0001583	missense	4688	0	0					g.chr1:183546760G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.340C>A	chr1.hg19:g.183546760G>T	ENSP00000356505:p.Leu114Ile	1					NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000413720.1_Missense_Mutation_p.L114I	p.L114I	NM_000433.3	NP_000424.2	1	2	3	2.190011	P19878	NCF2_HUMAN		3	591	-			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	1	1	hg19	c.340C>A	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199653	0.79015	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69040	-0.24;-0.27;-0.37;-0.24	5.56	4.64	0.57946	5.56	4.64	0.57946	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.86028	2.79	0.22280	N	0.999237	P;P;P	0.49635	0.925;0.926;0.661	P;P;P	0.57620	0.824;0.471;0.717	T	0.74386	-0.3682	10	0.72032	D	0.01	-8.1757	12.9702	0.58508	0.0:0.0:0.8375:0.1625	.	114;114;114	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	114;142;114;114;114	ENSP00000356506:L114I;ENSP00000399294:L114I;ENSP00000407217:L114I;ENSP00000356505:L114I	ENSP00000356505:L114I	L	-	1	0	0	NCF2	181813383	181813383	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.967000	0.76079	1.320000	0.45209	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_000433			66	65		354	352	1		1	1		0	0	81	0		1	9.999995e-01	0	3	0	111	0	66	354
ARPC5	10092	broad.mit.edu	37	1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000462965.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	14					actin cytoskeleton organization (GO:0030036)|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)	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)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632																																					Melanoma(136;1596 1789 3041 4830 41075)	ENST00000359856.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				4						c.(40-42)gTg>gCg		actin related protein 2/3 complex, subunit 5, 16kDa							91.0	70.0	77.0					1																	183604754		2203	4300	6503	SO:0001583	missense	10092	0	0					g.chr1:183604754A>G	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.41T>C	chr1.hg19:g.183604754A>G	ENSP00000352918:p.Val14Ala	1					ARPC5_ENST00000462965.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A	p.V14A	NM_005717.3	NP_005708.1	1	2	3	2.190011	O15511	ARPC5_HUMAN		1	107	-			A6NEC4|Q6PG42	Missense_Mutation	SNP	ENST00000359856.6	1	1	hg19	c.41T>C	CCDS1357.1	1	.	.	.	.	.	.	.	.	.	.	A	35	5.562476	0.96527	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85197	2.74	0.58432	D	0.999996	P	0.51653	0.947	P	0.56865	0.808	T	0.82200	-0.0575	9	0.87932	D	0	-25.9632	14.6726	0.68956	1.0:0.0:0.0:0.0	.	14	O15511	ARPC5_HUMAN	A	14	.	ENSP00000294742:V14A	V	-	2	0	0	ARPC5	181871377	181871377	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.656000	0.91102	2.116000	0.64780	0.482000	0.46254	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_005717			54	51		336	332	1		1	1		0	0	75	0		1	1	0	224	0	870	0	54	336
RGL1	23179	broad.mit.edu	37	1	183816811	183816811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000360851.3	+	3	428	c.250G>T	c.(250-252)Gct>Tct	p.A84S	RGL1_ENST00000304685.4_Missense_Mutation_p.A119S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	84	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCTGACAGCTTTTGGGGA	0.473																																						ENST00000360851.3	0.440000	0.170000	3.700000e-01	2.200000e-01	0.290000	0.301812	0.290000	0.280000																										0				51						c.(250-252)Gct>Tct		ral guanine nucleotide dissociation stimulator-like 1							172.0	170.0	170.0					1																	183816811		2203	4300	6503	SO:0001583	missense	23179	0	0					g.chr1:183816811G>T	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.250G>T	chr1.hg19:g.183816811G>T	ENSP00000354097:p.Ala84Ser	1					RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000304685.4_Missense_Mutation_p.A119S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S	p.A84S			1	2	3	2.190011	Q9NZL6	RGL1_HUMAN		3	428	+			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	0	1	hg19	c.250G>T		0	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913433	0.92178	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.51	5.51	0.81932	5.51	5.51	0.81932	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	N	0.16708	0.43	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.994;0.998;0.997;0.997	T	0.48614	-0.9020	10	0.21014	T	0.42	.	19.7945	0.96474	0.0:0.0:1.0:0.0	.	84;82;84;119	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	119;119;82;84;84	ENSP00000303192:A119S;ENSP00000356501:A119S;ENSP00000438662:A82S;ENSP00000354097:A84S;ENSP00000437355:A84S	ENSP00000303192:A119S	A	+	1	0	0	RGL1	182083434	182083434	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	9.184000	0.94893	2.746000	0.94184	0.591000	0.81541	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	0	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-3.282979	1	0.170000	NM_015149			17	17		739	727	0		1	0		0	0	164	0		9.999596e-01	2.375588e-01	0	0	0	39	0	17	739
RGL1	23179	broad.mit.edu	37	1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000360851.3	+	13	1582	c.1404T>G	c.(1402-1404)taT>taG	p.Y468*	RGL1_ENST00000304685.4_Nonsense_Mutation_p.Y503*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	468	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)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448																																						ENST00000360851.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1402-1404)taT>taG		ral guanine nucleotide dissociation stimulator-like 1							129.0	128.0	128.0					1																	183874037		2203	4300	6503	SO:0001587	stop_gained	23179	0	0					g.chr1:183874037T>G	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.1404T>G	chr1.hg19:g.183874037T>G	ENSP00000354097:p.Tyr468*	1					RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000304685.4_Nonsense_Mutation_p.Y503*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*	p.Y468*			1	2	3	2.190011	Q9NZL6	RGL1_HUMAN		13	1582	+			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	0	1	hg19	c.1404T>G		1	.	.	.	.	.	.	.	.	.	.	T	39	7.588588	0.98374	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.52	-5.05	0.02955	5.52	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1163	0.59301	0.0:0.4481:0.0:0.5519	.	.	.	.	X	503;503;466;273;468;439	.	ENSP00000303192:Y503X	Y	+	3	2	2	RGL1	182140660	182140660	0.937000	0.31787	0.475000	0.27278	0.568000	0.35870	0.027000	0.13621	-1.370000	0.02144	-1.140000	0.01884	TAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_015149			171	169		476	465	1		1	0		0	0	90	0		1	9.997190e-01	0	1	0	35	0	171	476
FAM129A	116496	broad.mit.edu	37	1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433																																						ENST00000367511.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(331-333)Gga>Tga		family with sequence similarity 129, member A							70.0	71.0	71.0					1																	184859344		2203	4300	6503	SO:0001587	stop_gained	116496	0	0					g.chr1:184859344C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.331G>T	chr1.hg19:g.184859344C>A	ENSP00000356481:p.Gly111*	1						p.G111*	NM_052966.2	NP_443198.1	1	2	3	2.190011	Q9BZQ8	NIBAN_HUMAN		4	524	-			Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	0	1	hg19	c.331G>T	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.386892	0.97524	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.71	4.79	0.61399	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.069	12.7785	0.57464	0.0:0.8357:0.1643:0.0	.	.	.	.	X	111	.	ENSP00000356481:G111X	G	-	1	0	0	FAM129A	183125967	183125967	0.993000	0.37304	0.989000	0.46669	0.450000	0.32258	3.074000	0.50065	1.387000	0.46486	0.655000	0.94253	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-6.179013	1	0.170000				80	80		203	195	0		1	0		0	0	57	0		1	1	0	0	0	71	0	80	203
IVNS1ABP	10625	broad.mit.edu	37	1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378																																						ENST00000367498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(205-207)gGa>gAa		influenza virus NS1A binding protein							53.0	55.0	54.0					1																	185278210		2203	4300	6503	SO:0001583	missense	10625	0	0					g.chr1:185278210C>T	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.206G>A	chr1.hg19:g.185278210C>T	ENSP00000356468:p.Gly69Glu	1					IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	p.G69E	NM_006469.4	NP_006460.2	1	2	3	2.190011	Q9Y6Y0	NS1BP_HUMAN		4	828	-			A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	1	1	hg19	c.206G>A	CCDS1368.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830580	0.91036	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66460	-0.21;-0.21	5.67	5.67	0.87782	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.144833	0.64402	D	0.000007	T	0.73666	0.3616	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71774	-0.4491	10	0.35671	T	0.21	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	69	Q9Y6Y0	NS1BP_HUMAN	E	69	ENSP00000356468:G69E;ENSP00000356467:G69E	ENSP00000356467:G69E	G	-	2	0	0	IVNS1ABP	183544833	183544833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.711000	0.84669	2.679000	0.91253	0.591000	0.81541	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_006469			72	71		216	214	1		1	1		0	0	47	0		1	1	0	108	0	213	0	72	216
HMCN1	83872	broad.mit.edu	37	1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	456	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTGACAGTCTTTTGCCCTT	0.423																																						ENST00000271588.4	1.000000	0.590000	1	7.300000e-01	0.900000	0.882945	0.900000	1.000000																										0				308						c.(1366-1368)Ctt>Att		hemicentin 1							153.0	134.0	140.0					1																	185894259		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:185894259C>A	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.1366C>A	chr1.hg19:g.185894259C>A	ENSP00000271588:p.Leu456Ile	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	p.L456I	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		9	1595	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.1366C>A	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009139	0.54361	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39056	1.1;1.1	5.89	3.01	0.34805	5.89	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129749	0.53938	D	0.000058	T	0.33469	0.0864	L	0.50333	1.59	0.42086	D	0.99127	P	0.41393	0.748	B	0.37346	0.247	T	0.05533	-1.0879	10	0.20519	T	0.43	.	11.5853	0.50914	0.0:0.8074:0.0:0.1926	.	456	Q96RW7	HMCN1_HUMAN	I	456	ENSP00000271588:L456I;ENSP00000356462:L456I	ENSP00000271588:L456I	L	+	1	0	0	HMCN1	184160882	184160882	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	0.894000	0.28350	0.396000	0.25283	0.655000	0.94253	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_031935			22	22		289	287	0		1	0		0	0	37	0		9.999989e-01	4.085667e-01	0	0	0	19	0	22	289
HMCN1	83872	broad.mit.edu	37	1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1321	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATGGCACATTGCTGGTT	0.418																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(3961-3963)aCa>aTa		hemicentin 1							146.0	133.0	137.0					1																	185969264		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:185969264C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3962C>T	chr1.hg19:g.185969264C>T	ENSP00000271588:p.Thr1321Ile	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	p.T1321I	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		26	4191	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.3962C>T	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316399	0.23908	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.46	3.54	0.40534	5.46	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313688	0.37715	N	0.001972	T	0.59838	0.2223	L	0.51422	1.61	0.09310	N	1	P	0.37594	0.601	B	0.39876	0.312	T	0.47812	-0.9088	10	0.24483	T	0.36	.	11.1561	0.48489	0.0:0.6935:0.2396:0.0669	.	1321	Q96RW7	HMCN1_HUMAN	I	1321	ENSP00000271588:T1321I;ENSP00000356462:T1321I	ENSP00000271588:T1321I	T	+	2	0	0	HMCN1	184235887	184235887	0.056000	0.20664	0.074000	0.20217	0.277000	0.26821	2.903000	0.48711	0.635000	0.30488	0.558000	0.71614	ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_031935			66	64		244	242	1		1	0		0	0	74	0		1	6.018974e-01	0	0	0	9	0	66	244
HMCN1	83872	broad.mit.edu	37	1	185992272	185992272	+	Silent	SNP	A	A	G	rs201746135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1912	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACATTCAACTGCATGTTC	0.373																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(5734-5736)caA>caG		hemicentin 1							114.0	110.0	111.0					1																	185992272		2203	4300	6503	SO:0001819	synonymous_variant	83872	0	0					g.chr1:185992272A>G	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.5736A>G	chr1.hg19:g.185992272A>G		1					HMCN1_ENST00000367492.2_Silent_p.Q1912Q	p.Q1912Q	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		36	5965	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	1	1	hg19	c.5736A>G	CCDS30956.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_031935			92	92		325	316	1		1	0		0	0	58	0		1	9.785547e-01	0	0	0	24	0	92	325
HMCN1	83872	broad.mit.edu	37	1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2227	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)			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						TCCACCCCCAAATCTCATCTG	0.338																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(6679-6681)Aat>Cat		hemicentin 1							97.0	93.0	94.0					1																	186022185		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:186022185A>C	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.6679A>C	chr1.hg19:g.186022185A>C	ENSP00000271588:p.Asn2227His	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	p.N2227H	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		43	6908	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.6679A>C	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974850	0.34848	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.3	2.85	0.33270	5.3	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220495	0.53938	D	0.000048	T	0.48995	0.1531	L	0.31420	0.93	0.24021	N	0.996143	B	0.11235	0.004	B	0.13407	0.009	T	0.38001	-0.9681	10	0.45353	T	0.12	.	5.1565	0.15038	0.638:0.1428:0.2192:0.0	.	2227	Q96RW7	HMCN1_HUMAN	H	2227	ENSP00000271588:N2227H;ENSP00000356462:N2227H	ENSP00000271588:N2227H	N	+	1	0	0	HMCN1	184288808	184288808	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.908000	0.56355	0.273000	0.22049	0.455000	0.32223	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_031935			73	71		382	373	1		1	0		0	0	65	0		1	9.237088e-01	0	0	0	25	0	73	382
HMCN1	83872	broad.mit.edu	37	1	186024739	186024739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2359	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACAGGCCGTTATGTGT	0.428																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(7075-7077)ggC>ggT		hemicentin 1							156.0	138.0	144.0					1																	186024739		2203	4300	6503	SO:0001819	synonymous_variant	83872	0	0					g.chr1:186024739C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7077C>T	chr1.hg19:g.186024739C>T		1					HMCN1_ENST00000367492.2_Silent_p.G2359G	p.G2359G	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		45	7306	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	1	1	hg19	c.7077C>T	CCDS30956.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	NM_031935			129	126		441	432	1		1	0		0	0	126	0		1	9.579233e-01	0	0	0	20	0	129	441
HMCN1	83872	broad.mit.edu	37	1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2567					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTCTTAATGTATTTGGTAG	0.398																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998416	0.990000	1.000000																										0				308						c.(7699-7701)Gta>Ata		hemicentin 1							63.0	61.0	62.0					1																	186034555		2203	4300	6503	SO:0001583	missense	83872	1	121362	23				g.chr1:186034555G>A	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.7699G>A	chr1.hg19:g.186034555G>A	ENSP00000271588:p.Val2567Ile	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	p.V2567I	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		49	7928	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.7699G>A	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369318	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74209	-0.82;-0.82	5.55	5.55	0.83447	5.55	5.55	0.83447	Immunoglobulin I-set (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.51914	1.62	0.80722	D	1	D	0.56035	0.974	D	0.73380	0.98	T	0.83154	-0.0102	10	0.49607	T	0.09	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	2567	Q96RW7	HMCN1_HUMAN	I	2567	ENSP00000271588:V2567I;ENSP00000356462:V2567I	ENSP00000271588:V2567I	V	+	1	0	0	HMCN1	184301178	184301178	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_031935			18	18		122	120	1		1	0		0	0	24	0		9.999864e-01	6.027283e-01	0	0	0	15	0	18	122
HMCN1	83872	broad.mit.edu	37	1	186039890	186039890	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGATGGACAGGCCAGTCACAA	0.378																																						ENST00000271588.4	0.810000	0.350000	6.900000e-01	4.500000e-01	0.560000	0.576240	0.560000	0.550000																										0				308						c.e52+1		hemicentin 1							111.0	105.0	107.0					1																	186039890		2203	4300	6503	SO:0001630	splice_region_variant	83872	0	0					g.chr1:186039890G>A	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.8139+1G>A	chr1.hg19:g.186039890G>A		1					HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		52	8368	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	1	1	hg19		CCDS30956.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.198072	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	HMCN1	184306513	184306513	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.566000	0.98157	2.687000	0.91594	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-4.507231	1	0.170000	NM_031935	Intron		21	21		461	452	0		1			0	0	59	0		9.999971e-01	0	0	0	0	0	0	21	461
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999782	0.990000	1.000000																										0				308						c.(8812-8814)atC>atT		hemicentin 1							52.0	58.0	56.0					1																	186052023		2203	4300	6503	SO:0001819	synonymous_variant	83872	1	121368	31				g.chr1:186052023C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8814C>T	chr1.hg19:g.186052023C>T		1					HMCN1_ENST00000367492.2_Silent_p.I2938I	p.I2938I	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		57	9043	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	1	1	hg19	c.8814C>T	CCDS30956.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	35		35	32	1	2.060000	-2.842834	1	0.170000	NM_031935			30	28		203	187	1		1	0		0	0	35	0		1	7.703657e-01	0	0	0	21	0	30	203
HMCN1	83872	broad.mit.edu	37	1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3235	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAAGCCCAGAAATATTACTT	0.328																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999551	0.990000	1.000000																										0				308						c.(9703-9705)Aaa>Caa		hemicentin 1							55.0	59.0	57.0					1																	186057863		2203	4298	6501	SO:0001583	missense	83872	0	0					g.chr1:186057863A>C	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.9703A>C	chr1.hg19:g.186057863A>C	ENSP00000271588:p.Lys3235Gln	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	p.K3235Q	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		63	9932	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.9703A>C	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488294	0.64074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.37	5.37	0.77165	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73867	-0.3847	10	0.25106	T	0.35	.	15.3835	0.74679	1.0:0.0:0.0:0.0	.	3235	Q96RW7	HMCN1_HUMAN	Q	3235	ENSP00000271588:K3235Q;ENSP00000356462:K3235Q	ENSP00000271588:K3235Q	K	+	1	0	0	HMCN1	184324486	184324486	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	8.923000	0.92808	2.028000	0.59812	0.528000	0.53228	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_031935			17	17		98	96	1		1	1		0	0	19	0		9.999747e-01	8.328281e-01	0	2	0	19	0	17	98
HMCN1	83872	broad.mit.edu	37	1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4013	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGCAACAGGGACACCCAG	0.393																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(12037-12039)Ggg>Agg		hemicentin 1							100.0	94.0	96.0					1																	186088957		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:186088957G>A	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.12037G>A	chr1.hg19:g.186088957G>A	ENSP00000271588:p.Gly4013Arg	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	p.G4013R	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		79	12266	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.12037G>A	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718089	0.89205	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	15.5677	0.76306	0.0:0.1373:0.8627:0.0	.	4013	Q96RW7	HMCN1_HUMAN	R	4013	ENSP00000271588:G4013R;ENSP00000356462:G4013R	ENSP00000271588:G4013R	G	+	1	0	0	HMCN1	184355580	184355580	1.000000	0.71417	0.787000	0.31911	0.896000	0.52359	7.807000	0.86032	2.830000	0.97506	0.585000	0.79938	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-5.349332	1	0.170000	NM_031935			96	93		272	264	1		1	0		0	0	75	0		1	9.999483e-01	0	0	0	44	0	96	272
HMCN1	83872	broad.mit.edu	37	1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4252	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACACTGTCAGCCTGACT	0.388																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(12754-12756)gTc>gCc		hemicentin 1							128.0	114.0	119.0					1																	186097274		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:186097274T>C	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.12755T>C	chr1.hg19:g.186097274T>C	ENSP00000271588:p.Val4252Ala	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	p.V4252A	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		83	12984	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.12755T>C	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745359	0.49151	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.37	5.37	0.77165	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436422	0.26474	N	0.024162	T	0.49813	0.1579	N	0.20610	0.595	0.37196	D	0.904143	B	0.31968	0.349	B	0.38803	0.282	T	0.51100	-0.8748	10	0.09590	T	0.72	.	15.3567	0.74431	0.0:0.0:0.0:1.0	.	4252	Q96RW7	HMCN1_HUMAN	A	4252	ENSP00000271588:V4252A;ENSP00000356462:V4252A	ENSP00000271588:V4252A	V	+	2	0	0	HMCN1	184363897	184363897	0.998000	0.40836	0.908000	0.35775	0.988000	0.76386	3.908000	0.56355	2.028000	0.59812	0.482000	0.46254	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_031935			106	106		320	313	1		1	0		0	0	75	0		1	9.998545e-01	0	1	0	41	0	106	320
HMCN1	83872	broad.mit.edu	37	1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4742	TSP type-1 4. {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)			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						GCGAAGGGAGTGATGTCCAGA	0.478																																						ENST00000271588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(14224-14226)agT>agG		hemicentin 1							121.0	113.0	115.0					1																	186113795		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:186113795T>G	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.14226T>G	chr1.hg19:g.186113795T>G	ENSP00000271588:p.Ser4742Arg	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	p.S4742R	NM_031935.2	NP_114141.2	1	2	3	2.190011	Q96RW7	HMCN1_HUMAN		91	14455	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.14226T>G	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177581	0.38413	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.82	2.16	0.27623	5.82	2.16	0.27623	.	0.384313	0.33161	N	0.005202	T	0.28962	0.0719	L	0.28054	0.825	0.31056	N	0.714655	B	0.09022	0.002	B	0.12156	0.007	T	0.14062	-1.0486	10	0.48119	T	0.1	.	3.8691	0.09029	0.2546:0.1803:0.0:0.5651	.	4742	Q96RW7	HMCN1_HUMAN	R	4742	ENSP00000271588:S4742R;ENSP00000356462:S4742R	ENSP00000271588:S4742R	S	+	3	2	2	HMCN1	184380418	184380418	0.025000	0.19082	0.921000	0.36526	0.885000	0.51271	0.026000	0.13599	0.419000	0.25927	-0.344000	0.07964	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_031935			83	83		368	360	1		1	0		0	0	80	0		1	9.977871e-01	0	1	0	42	0	83	368
PRG4	10216	broad.mit.edu	37	1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	143					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)			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						ACCAAACAAGAAGAAGACTAA	0.398																																						ENST00000445192.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				102						c.(427-429)Aag>Cag		proteoglycan 4							157.0	150.0	153.0					1																	186273347		2203	4300	6503	SO:0001583	missense	10216	0	0					g.chr1:186273347A>C	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.427A>C	chr1.hg19:g.186273347A>C	ENSP00000399679:p.Lys143Gln	1					PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q	p.K143Q	NM_005807.3	NP_005798.2	1	2	3	2.190011	Q92954	PRG4_HUMAN		5	472	+			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	1	1	hg19	c.427A>C	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086542	0.55861	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.07688	3.17;3.27;3.19;3.22	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.156884	0.29948	N	0.010787	T	0.17238	0.0414	L	0.29908	0.895	0.29742	N	0.837011	D;D	0.71674	0.997;0.998	D;D	0.68943	0.915;0.961	T	0.01608	-1.1313	10	0.87932	D	0	.	12.7893	0.57523	1.0:0.0:0.0:0.0	.	143;102	Q92954;Q92954-2	PRG4_HUMAN;.	Q	143;102;102;143	ENSP00000356456:K143Q;ENSP00000356454:K102Q;ENSP00000356453:K102Q;ENSP00000399679:K143Q	ENSP00000356453:K102Q	K	+	1	0	0	PRG4	184539970	184539970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.955000	0.56715	2.006000	0.58801	0.477000	0.44152	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-18.701780	1	0.170000	NM_005807			43	41		283	279	1		1	0		0	0	75	0		1	1.375676e-01	0	0	0	5	0	43	283
PRG4	10216	broad.mit.edu	37	1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	923					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)			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						AACAGAAAGAGACTTACGTAC	0.413																																						ENST00000445192.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(2767-2769)Gac>Aac		proteoglycan 4							213.0	218.0	217.0					1																	186277618		2203	4300	6503	SO:0001583	missense	10216	0	0					g.chr1:186277618G>A	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.2767G>A	chr1.hg19:g.186277618G>A	ENSP00000399679:p.Asp923Asn	1					PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N	p.D923N	NM_005807.3	NP_005798.2	1	2	3	2.190011	Q92954	PRG4_HUMAN		7	2812	+			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	1	1	hg19	c.2767G>A	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038064	0.19669	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.46;3.52;3.58;3.47;3.58	3.13	0.853	0.19001	3.13	0.853	0.19001	.	0.804728	0.10377	U	0.681971	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44659	0.84;0.84;0.753;0.84	P;P;B;P	0.50314	0.637;0.637;0.433;0.637	T	0.34700	-0.9818	10	0.15499	T	0.54	.	3.6248	0.08109	0.2757:0.0:0.536:0.1882	.	789;830;923;882	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	880;452;789;882;830;923	ENSP00000356456:D880N;ENSP00000356454:D452N;ENSP00000356453:D882N;ENSP00000356455:D830N;ENSP00000399679:D923N	ENSP00000356452:D789N	D	+	1	0	0	PRG4	184544241	184544241	0.000000	0.05858	0.654000	0.29608	0.191000	0.23601	-0.096000	0.11059	0.311000	0.23014	0.423000	0.28283	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	1	0	1		2	2	2	0		0	0	168		168	166	1	2.060000	-20.000000	1	0.170000	NM_005807			169	166		518	506	1		1	0		0	0	168	0		1	9.993941e-01	0	0	0	36	0	169	518
TPR	7175	broad.mit.edu	37	1	186307228	186307228	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1433					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)			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)		TTTTCTTAACTTGAGTAATAG	0.303			T	NTRK1	papillary thyroid																																	ENST00000367478.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q25	1q25	7175	T	translocated promoter region				E	E	NTRK1		papillary thyroid		0				123						c.(4297-4299)caA>caG		translocated promoter region, nuclear basket protein							144.0	129.0	134.0					1																	186307228		1819	4071	5890	SO:0001819	synonymous_variant	7175	0	0					g.chr1:186307228T>C	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.4299A>G	chr1.hg19:g.186307228T>C		1						p.Q1433Q	NM_003292.2	NP_003283.2	1	2	3	2.190011	P12270	TPR_HUMAN		31	4595	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	1	1	hg19	c.4299A>G	CCDS41446.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_003292			76	76		207	205	1		1	1		0	0	46	0		1	1	0	53	0	85	0	76	207
TPR	7175	broad.mit.edu	37	1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	892					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)			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)		TTTAATAGTTCTTTTGTGTTA	0.318			T	NTRK1	papillary thyroid																																	ENST00000367478.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000				Dom	yes			Dom	yes		1	1q25	1q25	7175	T	translocated promoter region				E	E	NTRK1		papillary thyroid		0				123						c.(2674-2676)Gaa>Taa		translocated promoter region, nuclear basket protein							186.0	170.0	175.0					1																	186319457		1821	4081	5902	SO:0001587	stop_gained	7175	0	0					g.chr1:186319457C>A	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.2674G>T	chr1.hg19:g.186319457C>A	ENSP00000356448:p.Glu892*	1					TPR_ENST00000474852.1_5'Flank	p.E892*	NM_003292.2	NP_003283.2	1	2	3	2.190011	P12270	TPR_HUMAN		21	2970	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	0	1	hg19	c.2674G>T	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.646956	0.99444	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	892	.	ENSP00000356448:E892X	E	-	1	0	0	TPR	184586080	184586080	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.310000	0.72830	2.797000	0.96272	0.561000	0.74099	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.345293	1	0.170000	NM_003292			31	31		169	161	1		1	1		0	0	31	0		1	1	0	6	0	159	0	31	169
TPR	7175	broad.mit.edu	37	1	186330803	186330803	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.4	-	9	1205	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	303					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)			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)		CTGCCCGGGTTAGTTCATTGC	0.353			T	NTRK1	papillary thyroid																																	ENST00000367478.4	0.580000	0.230000	4.900000e-01	3.000000e-01	0.380000	0.401861	0.380000	0.390000				Dom	yes			Dom	yes		1	1q25	1q25	7175	T	translocated promoter region				E	E	NTRK1		papillary thyroid		0				123						c.(907-909)ctA>ctG		translocated promoter region, nuclear basket protein							149.0	138.0	141.0					1																	186330803		1845	4092	5937	SO:0001819	synonymous_variant	7175	0	0					g.chr1:186330803T>C	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.909A>G	chr1.hg19:g.186330803T>C		1					TPR_ENST00000474852.1_5'UTR	p.L303L	NM_003292.2	NP_003283.2	1	2	3	2.190011	P12270	TPR_HUMAN		9	1205	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	1	1	hg19	c.909A>G	CCDS41446.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-16.507490	1	0.170000	NM_003292			19	19		611	597	0		1	1		0	0	90	0		9.999885e-01	8.945586e-01	0	6	0	122	0	19	611
OCLM	10896	broad.mit.edu	37	1	186370258	186370258	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	27					visual perception (GO:0007601)												AAATCCTTTATAAAAGTGGTA	0.323																																						ENST00000574641.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(79-81)taT>taC		oculomedin							114.0	108.0	110.0					1																	186370258		1796	4068	5864	SO:0001819	synonymous_variant	10896	0	0					g.chr1:186370258T>C	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.81T>C	chr1.hg19:g.186370258T>C		1					C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron	p.Y27Y	NM_022375.3	NP_071770.1	1	2	3	2.190011	Q9Y5M6	TISR_HUMAN		1	555	+			Q4G0F9	Silent	SNP	ENST00000574641.1	1	1	hg19	c.81T>C	CCDS58051.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_022375			109	108		282	280	0		1			0	0	60	0		1	0	0	0	0	0	0	109	282
IGSF21	84966	broad.mit.edu	37	1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	rs538117555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	268						extracellular region (GO:0005576)				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)		ATACCAGAGACGGTCGTGAGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17509	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1	1.000000	0.780000	9.800000e-01	8.600000e-01	0.930000	0.925062	0.930000	0.990000																										0				40						c.(802-804)aCg>aTg		immunoglobin superfamily, member 21							114.0	119.0	118.0					1																	18691979		2203	4300	6503	SO:0001583	missense	84966	2	121408	43				g.chr1:18691979C>T	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.803C>T	chr1.hg19:g.18691979C>T	ENSP00000251296:p.Thr268Met	1						p.T268M	NM_032880.4	NP_116269.3	0	1	1	1.828421	Q96ID5	IGS21_HUMAN		6	1186	+		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)	Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	1	1	hg19	c.803C>T	CCDS184.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176491	0.78564	.	.	ENSG00000117154	ENST00000251296	T	0.59224	0.28	4.28	4.28	0.50868	4.28	4.28	0.50868	.	0.151120	0.64402	D	0.000016	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.63769	-0.6562	10	0.49607	T	0.09	-3.8792	15.7859	0.78304	0.0:1.0:0.0:0.0	.	268	Q96ID5	IGS21_HUMAN	M	268	ENSP00000251296:T268M	ENSP00000251296:T268M	T	+	2	0	0	IGSF21	18564566	18564566	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.953000	0.75995	2.383000	0.81215	0.561000	0.74099	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	1	0	0		2	2	2	0		0	0	194		194	193	1	2.060000	-19.997740	1	0.170000	NM_032880			84	81		811	794	0		1	0		0	0	194	0		1	9.868512e-01	0	0	0	66	0	84	811
IGSF21	84966	broad.mit.edu	37	1	18703915	18703915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	441						extracellular region (GO:0005576)				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)		GAGGAACGGAGGACTCTAATG	0.478																																						ENST00000251296.1	0.910000	0.460000	8.000000e-01	5.600000e-01	0.670000	0.683829	0.670000	0.670000																										0				40						c.(1321-1323)gaG>gaA		immunoglobin superfamily, member 21							122.0	120.0	120.0					1																	18703915		2203	4300	6503	SO:0001819	synonymous_variant	84966	0	0					g.chr1:18703915G>A	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.1323G>A	chr1.hg19:g.18703915G>A		1						p.E441E	NM_032880.4	NP_116269.3	0	1	1	1.828421	Q96ID5	IGS21_HUMAN		9	1706	+		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)	Q8NBR8	Silent	SNP	ENST00000251296.1	1	1	hg19	c.1323G>A	CCDS184.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	0	0	1		15	2	2	0		0	1	107		107	106	1	2.060000	-3.318719	1	0.170000	NM_032880			29	29		429	423	0		1	0		0	0	107	0		9.888161e-01	7.553555e-01	0	0	0	42	0	29	429
KLHDC7A	127707	broad.mit.edu	37	1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	344						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672																																						ENST00000400664.1	0.970000	0.370000	8.600000e-01	5.100000e-01	0.680000	0.691493	0.680000	0.690000																										0				22						c.(1030-1032)Gaa>Aaa		kelch domain containing 7A							13.0	16.0	15.0					1																	18808505		2139	4208	6347	SO:0001583	missense	127707	0	0					g.chr1:18808505G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1030G>A	chr1.hg19:g.18808505G>A	ENSP00000383505:p.Glu344Lys	1						p.E344K	NM_152375.2	NP_689588.2	0	1	1	1.828421	Q5VTJ3	KLD7A_HUMAN		1	1082	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	1	1	hg19	c.1030G>A	CCDS185.2	0	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420592	0.42918	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72835	-0.69	5.31	-1.49	0.08718	5.31	-1.49	0.08718	.	4.598840	0.00649	N	0.000548	T	0.52741	0.1753	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.45353	T	0.12	.	5.4834	0.16737	0.3099:0.4088:0.2813:0.0	.	281;344	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	K	344;281	ENSP00000383505:E344K	ENSP00000383505:E344K	E	+	1	0	0	KLHDC7A	18681092	18681092	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.470000	0.22084	-0.314000	0.08716	0.313000	0.20887	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-15.247620	1	0.170000	NM_152375			11	11		153	144	0		1	0		0	0	32	0		9.979663e-01	1.594402e-02	0	0	0	3	0	11	153
KLHDC7A	127707	broad.mit.edu	37	1	18808833	18808833	+	Missense_Mutation	SNP	C	C	T	rs77562571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808833C>T	ENST00000400664.1	+	1	1410	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	453						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAAAGAGGCGGCCTACAAG	0.632																																						ENST00000400664.1	1.000000	0.920000	1	9.500000e-01	0.980000	0.981984	0.980000	0.990000																										0				22						c.(1357-1359)gCg>gTg		kelch domain containing 7A							59.0	61.0	60.0					1																	18808833		2203	4300	6503	SO:0001583	missense	127707	0	0					g.chr1:18808833C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1358C>T	chr1.hg19:g.18808833C>T	ENSP00000383505:p.Ala453Val	1						p.A453V	NM_152375.2	NP_689588.2	0	1	1	1.828421	Q5VTJ3	KLD7A_HUMAN		1	1410	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	1	0	hg19	c.1358C>T	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588771	0.86851	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78816	-1.21	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.61703	1.905	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.87405	0.2372	10	0.62326	D	0.03	.	17.5606	0.87906	0.0:1.0:0.0:0.0	.	390;453	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	V	453;390	ENSP00000383505:A453V	ENSP00000383505:A453V	A	+	2	0	0	KLHDC7A	18681420	18681420	0.998000	0.40836	0.963000	0.40424	0.744000	0.42396	3.752000	0.55172	2.486000	0.83907	0.491000	0.48974	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.478356	1	0.170000	NM_152375			84	84		407	402	1		1	0		0	0	88	0		1	7.919521e-02	0	1	0	2	0	84	407
KLHDC7A	127707	broad.mit.edu	37	1	18809562	18809562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18809562G>T	ENST00000400664.1	+	1	2139	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	696						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCAGCGCCAGCACC	0.662																																						ENST00000400664.1	0.440000	0.110000	3.400000e-01	1.700000e-01	0.240000	0.261088	0.240000	0.230000																										0				22						c.(2086-2088)aGc>aTc		kelch domain containing 7A							74.0	64.0	67.0					1																	18809562		2203	4299	6502	SO:0001583	missense	127707	0	0					g.chr1:18809562G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2087G>T	chr1.hg19:g.18809562G>T	ENSP00000383505:p.Ser696Ile	1						p.S696I	NM_152375.2	NP_689588.2	0	1	1	1.828421	Q5VTJ3	KLD7A_HUMAN		1	2139	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	0	1	hg19	c.2087G>T	CCDS185.2	0	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620703	0.66787	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.67865	-0.29	4.81	2.91	0.33838	4.81	2.91	0.33838	Kelch-type beta propeller (1);	0.322414	0.32703	N	0.005745	T	0.63838	0.2545	L	0.44542	1.39	0.28668	N	0.905798	P;D	0.54397	0.904;0.966	P;P	0.49597	0.514;0.616	T	0.60880	-0.7175	10	0.66056	D	0.02	.	10.2337	0.43270	0.1672:0.0:0.8328:0.0	.	633;696	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	I	696;633	ENSP00000383505:S696I	ENSP00000383505:S696I	S	+	2	0	0	KLHDC7A	18682149	18682149	0.959000	0.32827	0.998000	0.56505	0.969000	0.65631	2.181000	0.42547	0.417000	0.25871	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-8.171067	1	0.170000	NM_152375			8	8		351	345	0		1	0		0	0	61	0		9.888178e-01	2.024345e-03	0	0	0	3	0	8	351
PAX7	5081	broad.mit.edu	37	1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000375375.3	+	5	1275	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000420770.2_Missense_Mutation_p.A226V|PAX7_ENST00000400661.3_Missense_Mutation_p.A224V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	226					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)		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)		ACATTCACGGCCGAGCAGCTG	0.637			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000375375.3	1.000000	0.610000	9.700000e-01	7.600000e-01	0.890000	0.873974	0.890000	0.990000				Dom	yes			Dom	yes		1	1p36.2-p36.12	1p36.2-p36.12	5081	T	paired box gene 7				M	M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				31						c.(676-678)gCc>gTc		paired box 7							43.0	37.0	39.0					1																	19018338		2202	4300	6502	SO:0001583	missense	5081	0	0					g.chr1:19018338C>T	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.677C>T	chr1.hg19:g.19018338C>T	ENSP00000364524:p.Ala226Val	1					PAX7_ENST00000420770.2_Missense_Mutation_p.A226V|PAX7_ENST00000400661.3_Missense_Mutation_p.A224V	p.A226V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	0	1	1	1.828421	P23759	PAX7_HUMAN		5	1275	+		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)	E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	0	1	hg19	c.677C>T	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780423	0.70222	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.07	0.47477	4.98	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.112115	0.64402	D	0.000012	D	0.92922	0.7748	L	0.37897	1.145	0.80722	D	1	P;P;B	0.47762	0.571;0.9;0.151	P;P;B	0.45660	0.489;0.477;0.192	D	0.92496	0.6004	10	0.72032	D	0.01	.	12.0368	0.53429	0.0:0.9151:0.0:0.0849	.	226;224;226	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	226;226;224	ENSP00000364524:A226V;ENSP00000403389:A226V;ENSP00000383502:A224V	ENSP00000364524:A226V	A	+	2	0	0	PAX7	18890925	18890925	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.783000	0.85696	1.104000	0.41587	-0.136000	0.14681	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	1	0	1		2	2	2	0		0	0	26		26	24	1	2.060000	-19.999680	1	0.170000	NM_002584			15	14		110	107	1		1			0	0	26	0		9.998801e-01	0	0	0	0	0	0	15	110
TAS1R2	80834	broad.mit.edu	37	1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	784					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)			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)	CAGCACCCCGCTGTAGGCAGA	0.567																																						ENST00000375371.3	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.953255	0.960000	0.990000																										0				45						c.(2350-2352)aGc>aAc		taste receptor, type 1, member 2	Aspartame(DB00168)						122.0	92.0	102.0					1																	19166262		2203	4300	6503	SO:0001583	missense	80834	0	0					g.chr1:19166262C>T		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.2351G>A	chr1.hg19:g.19166262C>T	ENSP00000364520:p.Ser784Asn	1						p.S784N	NM_152232.2	NP_689418.2	0	1	1	1.828421	Q8TE23	TS1R2_HUMAN		6	2372	-		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)	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	1	1	hg19	c.2351G>A	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733088	0.00687	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.06	1.4	0.22301	5.06	1.4	0.22301	GPCR, family 3, C-terminal (2);	2.888830	0.01588	N	0.021403	T	0.68559	0.3014	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61292	-0.7092	10	0.19147	T	0.46	.	6.9083	0.24321	0.0:0.2752:0.0:0.7248	.	784	Q8TE23	TS1R2_HUMAN	N	784	ENSP00000364520:S784N	ENSP00000364520:S784N	S	-	2	0	0	TAS1R2	19038849	19038849	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.137000	0.15995	0.002000	0.14630	-1.750000	0.00680	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000				32	31		150	145	1		1			0	0	36	0		1	0	0	0	0	0	0	32	150
TAS1R2	80834	broad.mit.edu	37	1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	485					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)			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)	GTTGTTGATGGTGTGCCAGGA	0.637																																						ENST00000375371.3	0.980000	0.510000	9.200000e-01	6.400000e-01	0.780000	0.782531	0.780000	0.800000																										0				45						c.(1453-1455)aCc>aTc		taste receptor, type 1, member 2	Aspartame(DB00168)						82.0	72.0	75.0					1																	19175848		2203	4300	6503	SO:0001583	missense	80834	0	0					g.chr1:19175848G>A		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.1454C>T	chr1.hg19:g.19175848G>A	ENSP00000364520:p.Thr485Ile	1					RP13-279N23.2_ENST00000494072.3_3'UTR	p.T485I	NM_152232.2	NP_689418.2	0	1	1	1.828421	Q8TE23	TS1R2_HUMAN		4	1475	-		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)	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	1	1	hg19	c.1454C>T	CCDS187.1	0	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463389	0.26248	.	.	ENSG00000179002	ENST00000375371	D	0.89746	-2.56	4.4	2.5	0.30297	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000173	D	0.87366	0.6159	N	0.19112	0.55	0.22911	N	0.998575	D	0.89917	1.0	D	0.76575	0.988	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.1144	0.25409	0.0:0.1891:0.6151:0.1958	.	485	Q8TE23	TS1R2_HUMAN	I	485	ENSP00000364520:T485I	ENSP00000364520:T485I	T	-	2	0	0	TAS1R2	19048435	19048435	1.000000	0.71417	0.603000	0.28903	0.230000	0.25150	3.622000	0.54217	0.478000	0.27488	0.561000	0.74099	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				21	19		251	249	0		1			0	0	49	0		9.999977e-01	0	0	0	0	0	0	21	251
TAS1R2	80834	broad.mit.edu	37	1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	278					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)			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)	AGGGTCAGGTCGGGCGAGAAC	0.632																																						ENST00000375371.3	1.000000	0.570000	9.600000e-01	7.100000e-01	0.850000	0.840109	0.850000	0.960000																										0				45						c.(832-834)Gac>Aac		taste receptor, type 1, member 2	Aspartame(DB00168)						63.0	57.0	59.0					1																	19181132		2203	4300	6503	SO:0001583	missense	80834	0	0					g.chr1:19181132C>T		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.832G>A	chr1.hg19:g.19181132C>T	ENSP00000364520:p.Asp278Asn	1					RP13-279N23.2_ENST00000494072.3_3'UTR	p.D278N	NM_152232.2	NP_689418.2	0	1	1	1.828421	Q8TE23	TS1R2_HUMAN		3	853	-		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)	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	1	1	hg19	c.832G>A	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091015	0.55968	.	.	ENSG00000179002	ENST00000375371	D	0.82984	-1.67	4.99	4.99	0.66335	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.820936	0.10616	N	0.653957	D	0.86481	0.5943	L	0.43152	1.355	0.28072	N	0.93254	D	0.69078	0.997	P	0.62560	0.904	T	0.77354	-0.2619	10	0.18710	T	0.47	.	15.8175	0.78615	0.0:1.0:0.0:0.0	.	278	Q8TE23	TS1R2_HUMAN	N	278	ENSP00000364520:D278N	ENSP00000364520:D278N	D	-	1	0	0	TAS1R2	19053719	19053719	0.004000	0.15560	0.173000	0.22940	0.028000	0.11728	0.976000	0.29462	2.607000	0.88179	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-19.999990	1	0.170000				18	18		174	170	0		1			0	0	46	0		9.999832e-01	0	0	0	0	0	0	18	174
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	C	T	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000290597.5_Silent_p.S208S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Silent_p.S148S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					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)			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)		AGTTAAAGGGCGAGATGGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16822	0.0		0.0	False		,,,				2504	0.0					ENST00000375341.3	0.950000	0.500000	8.500000e-01	6.000000e-01	0.720000	0.733603	0.720000	0.720000																										0				15						c.(622-624)tcG>tcA		aldehyde dehydrogenase 4 family, member A1		C	,,	1,4403	2.1+/-5.4	0,1,2201	38.0	41.0	40.0		444,624,624	-10.8	0.2	1	dbSNP_134	40	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	148/504,208/564,208/564	19209672	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8659	3	121384	35				g.chr1:19209672C>T	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.624G>A	chr1.hg19:g.19209672C>T		1					ALDH4A1_ENST00000290597.5_Silent_p.S208S|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	p.S208S	NM_003748.3	NP_003739.2	0	1	1	1.828421	P30038	AL4A1_HUMAN		7	881	-		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)	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	0	1	hg19	c.624G>A	CCDS188.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	0	0	0		18	2	2	1		1	1	86		86	82	1	2.060000	-20.000000	1	0.170000				30	30		407	400	0		1	1		1	0	86	0		9.694814e-01	3.130726e-01	0	6	0	10	0	30	407
ALDH4A1	8659	broad.mit.edu	37	1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	199					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)			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)		ACCTCCAGACCCCGGTACACC	0.657																																						ENST00000375341.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.978023	0.980000	0.990000																										0				15						c.(595-597)Ggt>Agt		aldehyde dehydrogenase 4 family, member A1							42.0	40.0	41.0					1																	19209781		2203	4300	6503	SO:0001583	missense	8659	0	0					g.chr1:19209781C>T	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.595G>A	chr1.hg19:g.19209781C>T	ENSP00000364490:p.Gly199Ser	1					ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	p.G199S	NM_003748.3	NP_003739.2	0	1	1	1.828421	P30038	AL4A1_HUMAN		6	852	-		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)	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	1	1	hg19	c.595G>A	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331689	0.81690	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.51537	-0.8693	10	0.25106	T	0.35	-37.3033	17.7436	0.88413	0.0:1.0:0.0:0.0	.	199	P30038	AL4A1_HUMAN	S	199;199;199;139;183;97;139;183	ENSP00000290597:G199S;ENSP00000364490:G199S;ENSP00000446071:G199S;ENSP00000442988:G139S;ENSP00000393209:G183S	ENSP00000290597:G199S	G	-	1	0	0	ALDH4A1	19082368	19082368	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.184000	0.77705	2.537000	0.85549	0.561000	0.74099	GGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000				58	58		217	216	1		1	0		0	0	54	0		1	7.540876e-01	0	1	0	11	0	58	217
ALDH4A1	8659	broad.mit.edu	37	1	19212023	19212023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	ENST00000375341.3	-	5	654	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	133					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)			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)		CTCAGCATGTCTGCCGCCTTC	0.662																																						ENST00000375341.3	1.000000	0.610000	9.800000e-01	7.700000e-01	0.900000	0.880870	0.900000	0.990000																										0				15						c.(397-399)Gac>Tac		aldehyde dehydrogenase 4 family, member A1							33.0	30.0	31.0					1																	19212023		2202	4300	6502	SO:0001583	missense	8659	0	0					g.chr1:19212023C>A	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.397G>T	chr1.hg19:g.19212023C>A	ENSP00000364490:p.Asp133Tyr	1					ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	p.D133Y	NM_003748.3	NP_003739.2	0	1	1	1.828421	P30038	AL4A1_HUMAN		5	654	-		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)	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	0	1	hg19	c.397G>T	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142755	0.77888	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.41	5.41	0.78517	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94986	0.8130	10	0.87932	D	0	-22.533	17.7644	0.88473	0.0:1.0:0.0:0.0	.	133	P30038	AL4A1_HUMAN	Y	133;133;133;73;117;31;73;117	ENSP00000290597:D133Y;ENSP00000364490:D133Y;ENSP00000446071:D133Y;ENSP00000442988:D73Y;ENSP00000393209:D117Y	ENSP00000290597:D133Y	D	-	1	0	0	ALDH4A1	19084610	19084610	1.000000	0.71417	0.098000	0.21074	0.704000	0.40688	7.186000	0.77722	2.551000	0.86045	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.854620	1	0.170000				11	11		56	55	0		1	1		0	0	14	0		9.987051e-01	8.341324e-01	0	9	0	10	0	11	56
PTGS2	5743	broad.mit.edu	37	1	186645084	186645084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	401					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)			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)	TTCCATGTTCCAGCAATATAG	0.388																																						ENST00000367468.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1201-1203)ctG>ctA		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	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)						127.0	123.0	124.0					1																	186645084		2203	4300	6503	SO:0001819	synonymous_variant	5743	0	0					g.chr1:186645084C>T	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.1203G>A	chr1.hg19:g.186645084C>T		1					PTGS2_ENST00000490885.2_5'UTR	p.L401L	NM_000963.2	NP_000954.1	1	2	3	2.190011	P35354	PGH2_HUMAN		8	1339	-			A8K802|Q16876	Silent	SNP	ENST00000367468.5	1	1	hg19	c.1203G>A	CCDS1371.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	0	0	1		18	2	2	1		1	1	77		77	76	1	2.060000	-4.869275	1	0.170000	NM_000963			103	102		314	309	1		1	0		1	0	77	0		1	8.653912e-01	0	1	0	12	0	103	314
RGS1	5996	broad.mit.edu	37	1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	65					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338																																						ENST00000367459.3	1.000000	0.680000	1	8.500000e-01	0.990000	0.947675	0.990000	1.000000																										0				22						c.(193-195)Atg>Gtg		regulator of G-protein signaling 1							78.0	78.0	78.0					1																	192545470		2203	4297	6500	SO:0001583	missense	5996	0	0					g.chr1:192545470A>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.193A>G	chr1.hg19:g.192545470A>G	ENSP00000356429:p.Met65Val	1					RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	p.M65V	NM_002922.3	NP_002913.3	1	2	3	2.190011	Q08116	RGS1_HUMAN		2	259	+		Breast(1374;0.188)	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	1	1	hg19	c.193A>G	CCDS1375.2	1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773599	0.31411	.	.	ENSG00000090104	ENST00000367459	T	0.36699	1.24	5.91	4.72	0.59763	5.91	4.72	0.59763	.	1.982040	0.02048	N	0.049806	T	0.28433	0.0703	N	0.14661	0.345	0.36212	D	0.851395	B;B	0.16802	0.019;0.0	B;B	0.12837	0.008;0.0	T	0.03566	-1.1024	10	0.27785	T	0.31	.	11.8361	0.52325	0.8539:0.1461:0.0:0.0	.	65;65	Q08116-2;Q08116	.;RGS1_HUMAN	V	65	ENSP00000356429:M65V	ENSP00000356429:M65V	M	+	1	0	0	RGS1	190812093	190812093	0.994000	0.37717	0.997000	0.53966	0.932000	0.56968	2.090000	0.41682	2.254000	0.74563	0.533000	0.62120	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-8.515603	1	0.170000	NM_002922			23	22		259	256	0		1	0		0	0	63	0		9.999994e-01	1	0	0	0	834	0	23	259
RGS2	5997	broad.mit.edu	37	1	192778279	192778279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192778279C>T	ENST00000235382.5	+	1	109	c.78C>T	c.(76-78)agC>agT	p.S26S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	26					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)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCACAAGAGCGAGGAGAAGC	0.567																																					Pancreas(71;51 2183 4981)	ENST00000235382.5	0.380000	0.090000	3.000000e-01	1.400000e-01	0.210000	0.228260	0.210000	0.210000																										0				5						c.(76-78)agC>agT		regulator of G-protein signaling 2							198.0	172.0	181.0					1																	192778279		2203	4300	6503	SO:0001819	synonymous_variant	5997	0	0					g.chr1:192778279C>T	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.78C>T	chr1.hg19:g.192778279C>T		1					RGS2_ENST00000483295.1_3'UTR	p.S26S	NM_002923.3	NP_002914.1	1	2	3	2.190011	P41220	RGS2_HUMAN		1	109	+			Q6I9U5	Silent	SNP	ENST00000235382.5	0	1	hg19	c.78C>T	CCDS1377.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	0	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-3.158511	1	0.170000	NM_002923			8	8		490	485	0		1	1		0	0	80	0		9.890351e-01	7.257741e-01	0	3	0	151	0	8	490
CDC73	79577	broad.mit.edu	37	1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	120					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|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 Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338																																						ENST00000367435.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(358-360)cGa>cAa		cell division cycle 73							100.0	95.0	97.0					1																	193104572		2203	4300	6503	SO:0001583	missense	79577	0	0					g.chr1:193104572G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.359G>A	chr1.hg19:g.193104572G>A	ENSP00000356405:p.Arg120Gln	1					MIR1278_ENST00000408753.1_RNA	p.R120Q	NM_024529.4	NP_078805.3	1	2	3	2.190011	Q6P1J9	CDC73_HUMAN		4	543	+			A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	1	1	hg19	c.359G>A	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679579	0.68042	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.7	4.79	0.61399	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.76076	0.3937	L	0.43152	1.355	0.54753	D	0.999987	P	0.50443	0.935	B	0.34722	0.188	T	0.74343	-0.3696	10	0.18276	T	0.48	-10.1528	14.6786	0.69001	0.0697:0.0:0.9303:0.0	.	120	Q6P1J9	CDC73_HUMAN	Q	120	ENSP00000356405:R120Q	ENSP00000356405:R120Q	R	+	2	0	0	CDC73	191371195	191371195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.406000	0.46857	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-6.096782	1	0.170000	NM_024529			103	100		293	291	1		1	1		0	0	48	0		1	1	0	51	0	92	0	103	293
CDC73	79577	broad.mit.edu	37	1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	191					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|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 Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373																																						ENST00000367435.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(571-573)Gct>Act		cell division cycle 73							63.0	56.0	59.0					1																	193111038		2203	4300	6503	SO:0001583	missense	79577	0	0					g.chr1:193111038G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.571G>A	chr1.hg19:g.193111038G>A	ENSP00000356405:p.Ala191Thr	1						p.A191T	NM_024529.4	NP_078805.3	1	2	3	2.190011	Q6P1J9	CDC73_HUMAN		7	755	+			A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	1	1	hg19	c.571G>A	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093681	0.76870	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86030	-2.06	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.79805	2.47	0.80722	D	1	B	0.21520	0.057	B	0.21708	0.036	T	0.81872	-0.0733	10	0.23891	T	0.37	-18.9726	20.5568	0.99304	0.0:0.0:1.0:0.0	.	191	Q6P1J9	CDC73_HUMAN	T	191	ENSP00000356405:A191T	ENSP00000356405:A191T	A	+	1	0	0	CDC73	191377661	191377661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.861000	0.98227	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.993750	1	0.170000	NM_024529			34	33		135	133	1		1	1		0	0	33	0		1	9.999997e-01	0	36	0	67	0	34	135
GABRD	2563	broad.mit.edu	37	1	1956825	1956825	+	Silent	SNP	C	C	A	rs576565752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)	TCGACCACATCTCAGAGGCCA	0.652																																						ENST00000378585.4	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.946506	0.950000	0.990000																										0				20						c.(232-234)atC>atA		gamma-aminobutyric acid (GABA) A receptor, delta	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)						64.0	67.0	66.0					1																	1956825		2203	4300	6503	SO:0001819	synonymous_variant	2563	0	0					g.chr1:1956825C>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	chr1.hg19:g.1956825C>A		1						p.I78I	NM_000815.4	NP_000806.2	0	1	1	1.838767	O14764	GBRD_HUMAN		3	317	+	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	Q8N4N9	Silent	SNP	ENST00000378585.4	1	1	hg19	c.234C>A	CCDS36.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	0	0	1		18	2	2	0		0	1	114		114	114	1	2.060000	-19.991050	1	0.170000	NM_000815			64	64		521	516	1		1	0		0	0	114	0		1	2.621635e-01	0	0	0	9	0	64	521
GABRD	2563	broad.mit.edu	37	1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T	rs200019257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	418					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)	CATCCGTGCCCGGCTCAGGCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15348	0.0		0.001	False		,,,				2504	0.0					ENST00000378585.4	1.000000	0.690000	9.700000e-01	7.900000e-01	0.880000	0.882888	0.880000	0.940000																										0				20						c.(1252-1254)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, delta	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)	C	TRP/ARG	1,4403		0,1,2201	59.0	59.0	59.0		1252	0.4	0.0	1		59	0,8598		0,0,4299	no	missense	GABRD	NM_000815.4	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	418/453	1961614	1,13001	2202	4299	6501	SO:0001583	missense	2563	9	121114	44				g.chr1:1961614C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1252C>T	chr1.hg19:g.1961614C>T	ENSP00000367848:p.Arg418Trp	1						p.R418W	NM_000815.4	NP_000806.2	0	1	1	1.838767	O14764	GBRD_HUMAN		9	1335	+	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	1	1	hg19	c.1252C>T	CCDS36.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.752	0.703535	0.15172	2.27E-4	0.0	ENSG00000187730	ENST00000378585	D	0.85088	-1.94	3.82	0.383	0.16239	3.82	0.383	0.16239	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.159450	0.01848	N	0.035703	T	0.68622	0.3021	N	0.08118	0	0.09310	N	0.999999	P	0.46327	0.876	B	0.34452	0.183	T	0.66143	-0.5997	10	0.72032	D	0.01	-6.4253	6.0845	0.19960	0.4046:0.4988:0.0:0.0966	.	418	O14764	GBRD_HUMAN	W	418	ENSP00000367848:R418W	ENSP00000367848:R418W	R	+	1	2	2	GABRD	1951474	1951474	0.065000	0.20965	0.005000	0.12908	0.110000	0.19582	1.570000	0.36439	0.241000	0.21283	-0.325000	0.08501	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	0	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-2.744762	1	0.170000	NM_000815			50	49		514	508	0		1	0		0	0	128	0		1	2.324890e-02	0	0	0	3	0	50	514
UBR4	23352	broad.mit.edu	37	1	19428113	19428113	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19428113G>T	ENST00000375254.3	-	88	12951	c.12924C>A	c.(12922-12924)gcC>gcA	p.A4308A	UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375267.2_Silent_p.A4308A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000429347.2_5'Flank|UBR4_ENST00000543981.1_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4308					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)			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)		CAGCCATGAAGGCCTTGGTTT	0.493																																						ENST00000375254.3	0.330000	0.090000	2.600000e-01	1.300000e-01	0.190000	0.203497	0.190000	0.180000																										0				171						c.(12922-12924)gcC>gcA		ubiquitin protein ligase E3 component n-recognin 4							123.0	113.0	116.0					1																	19428113		2203	4300	6503	SO:0001819	synonymous_variant	23352	0	0					g.chr1:19428113G>T	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.12924C>A	chr1.hg19:g.19428113G>T		1					UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375267.2_Silent_p.A4308A|UBR4_ENST00000429347.2_5'Flank|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000467272.2_5'Flank	p.A4308A	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		88	12951	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	0	1	hg19	c.12924C>A	CCDS189.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0		2	2	2	0		0	0	124		124	120	1	2.060000	-2.943849	1	0.170000	NM_020765			9	9		508	505	0		1	1		0	0	124	0		9.940889e-01	8.152653e-01	0	18	0	160	0	9	508
UBR4	23352	broad.mit.edu	37	1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375254.3	-	86	12745	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000543981.1_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4240					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)			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)		CCTGTGAGACTTTTAAGGGCA	0.517																																						ENST00000375254.3	1.000000	0.600000	9.700000e-01	7.500000e-01	0.880000	0.867979	0.880000	0.990000																										0				171						c.(12718-12720)Agt>Ggt		ubiquitin protein ligase E3 component n-recognin 4							68.0	58.0	62.0					1																	19431088		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19431088T>C	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.12718A>G	chr1.hg19:g.19431088T>C	ENSP00000364403:p.Ser4240Gly	1					UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000543981.1_5'Flank|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375224.1_5'UTR	p.S4240G	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		86	12745	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.12718A>G	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723048	0.68959	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.19112	0.55	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58177	-0.7682	10	0.22109	T	0.4	.	14.002	0.64439	0.0:0.0:0.0:1.0	.	4240	Q5T4S7	UBR4_HUMAN	G	4240;4240;4233;4216	ENSP00000364403:S4240G;ENSP00000364416:S4240G;ENSP00000364365:S4233G;ENSP00000364374:S4216G	ENSP00000364365:S4233G	S	-	1	0	0	UBR4	19303675	19303675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.326000	0.78906	0.533000	0.62120	AGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-19.996170	1	0.170000	NM_020765			14	14		103	102	1		1	1		0	0	37	0		9.998062e-01	9.999948e-01	0	21	0	160	0	14	103
UBR4	23352	broad.mit.edu	37	1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375254.3	-	68	10058	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375218.3_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3344	Ser-rich.				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)			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)		GGAAGAAGCACTGGAGGATCC	0.557																																						ENST00000375254.3	1.000000	0.680000	9.700000e-01	7.900000e-01	0.900000	0.889847	0.900000	0.990000																										0				171						c.(10030-10032)aGt>aTt		ubiquitin protein ligase E3 component n-recognin 4							52.0	57.0	55.0					1																	19447793		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19447793C>A	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.10031G>T	chr1.hg19:g.19447793C>A	ENSP00000364403:p.Ser3344Ile	1					UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375218.3_5'Flank	p.S3344I	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		68	10058	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.10031G>T	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124794	0.56613	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25085	1.82;1.82;1.83;1.83	5.95	5.04	0.67666	5.95	5.04	0.67666	.	1.898250	0.01993	N	0.045680	T	0.20251	0.0487	N	0.12182	0.205	0.29740	N	0.837165	B	0.20671	0.047	B	0.21360	0.034	T	0.16482	-1.0401	10	0.51188	T	0.08	.	9.5203	0.39131	0.0:0.781:0.1444:0.0746	.	3344	Q5T4S7	UBR4_HUMAN	I	3344;3344;3337;3320;952;2030	ENSP00000364403:S3344I;ENSP00000364416:S3344I;ENSP00000364365:S3337I;ENSP00000364374:S3320I	ENSP00000364365:S3337I	S	-	2	0	0	UBR4	19320380	19320380	0.904000	0.30761	0.063000	0.19743	0.938000	0.57974	3.191000	0.50981	1.511000	0.48818	0.655000	0.94253	AGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_020765			33	34		306	301	1		1	1		0	0	72	0		1	9.995492e-01	0	12	0	99	0	33	306
UBR4	23352	broad.mit.edu	37	1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375254.3	-	55	8162	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K|UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2712					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)			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)		AGTCACATGTCTCCGTTTGTT	0.488																																						ENST00000375254.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.938853	0.940000	0.990000																										0				171						c.(8134-8136)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 4							250.0	216.0	228.0					1																	19470518		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19470518C>T	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.8135G>A	chr1.hg19:g.19470518C>T	ENSP00000364403:p.Arg2712Lys	1					UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K	p.R2712K	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		55	8162	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.8135G>A	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.256004	0.95336	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.59224	1.39;1.38;0.28;1.31	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.67503	-0.5654	10	0.49607	T	0.09	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2712	Q5T4S7	UBR4_HUMAN	K	2712;2712;2740;2723;355;1433	ENSP00000364403:R2712K;ENSP00000364416:R2712K;ENSP00000364365:R2740K;ENSP00000364374:R2723K	ENSP00000364365:R2740K	R	-	2	0	0	UBR4	19343105	19343105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-19.351390	1	0.170000	NM_020765			60	60		506	502	1		1	1		0	0	130	0		1	9.994425e-01	0	21	0	73	0	60	506
UBR4	23352	broad.mit.edu	37	1	19486689	19486689	+	Silent	SNP	G	G	A	rs139582695	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19486689G>A	ENST00000375254.3	-	39	5520	c.5493C>T	c.(5491-5493)gcC>gcT	p.A1831A	UBR4_ENST00000375226.2_Silent_p.A1831A|UBR4_ENST00000375267.2_Silent_p.A1831A|UBR4_ENST00000375217.2_Silent_p.A1831A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1831					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)			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)		TGCTCCCGACGGCTGAAGCTT	0.522													G|||	5	0.000998403	0.0	0.0014	5008	,	,		18321	0.0		0.004	False		,,,				2504	0.0					ENST00000375254.3	1.000000	0.780000	9.900000e-01	8.800000e-01	0.940000	0.939167	0.940000	0.990000																										0				171						c.(5491-5493)gcC>gcT		ubiquitin protein ligase E3 component n-recognin 4		G		1,4405	2.1+/-5.4	0,1,2202	75.0	71.0	72.0		5493	-11.5	0.1	1	dbSNP_134	72	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	UBR4	NM_020765.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		1831/5184	19486689	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	23352	47	121410	49				g.chr1:19486689G>A	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.5493C>T	chr1.hg19:g.19486689G>A		1					UBR4_ENST00000375217.2_Silent_p.A1831A|UBR4_ENST00000375267.2_Silent_p.A1831A|UBR4_ENST00000375226.2_Silent_p.A1831A	p.A1831A	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		39	5520	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	1	0	hg19	c.5493C>T	CCDS189.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.140896	1	0.170000	NM_020765			32	32		200	195	1		1	1		0	0	49	0		1	9.990723e-01	0	11	0	59	0	32	200
UBR4	23352	broad.mit.edu	37	1	19500066	19500066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19500066C>T	ENST00000375254.3	-	23	3059	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1011					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)			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)		TGGTAAAATTCCTAGGATCCT	0.458																																						ENST00000375254.3	0.770000	0.210000	6.100000e-01	3.100000e-01	0.440000	0.468347	0.440000	0.420000																										0				171						c.(3031-3033)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 4							108.0	100.0	103.0					1																	19500066		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19500066C>T	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.3032G>A	chr1.hg19:g.19500066C>T	ENSP00000364403:p.Gly1011Glu	1					UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E	p.G1011E	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		23	3059	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.3032G>A	CCDS189.1	0	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384326	0.82792	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.40543	1.245	0.80722	D	1	P	0.47106	0.89	B	0.42245	0.381	T	0.27706	-1.0066	10	0.31617	T	0.26	.	19.1194	0.93357	0.0:1.0:0.0:0.0	.	1011	Q5T4S7	UBR4_HUMAN	E	1011;1011;1011;1011;227	ENSP00000364403:G1011E;ENSP00000364416:G1011E;ENSP00000364365:G1011E;ENSP00000364374:G1011E	ENSP00000364365:G1011E	G	-	2	0	0	UBR4	19372653	19372653	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.484000	0.81180	2.605000	0.88082	0.655000	0.94253	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-10.443880	1	0.170000	NM_020765			8	8		186	185	0		1	1		0	0	45	0		9.896025e-01	4.528317e-01	0	3	0	31	0	8	186
UBR4	23352	broad.mit.edu	37	1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375254.3	-	7	817	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	264					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)			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)		AGGAAATATGGCAGGTTCAAA	0.423																																						ENST00000375254.3	0.620000	0.310000	5.400000e-01	3.700000e-01	0.450000	0.464179	0.450000	0.450000																										0				171						c.(790-792)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 4							155.0	150.0	152.0					1																	19524267		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19524267G>T	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.790C>A	chr1.hg19:g.19524267G>T	ENSP00000364403:p.Pro264Thr	1					UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T|UBR4_ENST00000375226.2_Missense_Mutation_p.P264T	p.P264T	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		7	817	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.790C>A	CCDS189.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341787	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.35605	1.33;1.33;1.3;1.31	5.8	4.89	0.63831	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.20706	-1.0267	10	0.87932	D	0	.	13.4566	0.61201	0.0754:0.0:0.9246:0.0	.	264	Q5T4S7	UBR4_HUMAN	T	264	ENSP00000364403:P264T;ENSP00000364416:P264T;ENSP00000364365:P264T;ENSP00000364374:P264T	ENSP00000364365:P264T	P	-	1	0	0	UBR4	19396854	19396854	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.383000	0.73172	1.460000	0.47911	0.650000	0.86243	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	135		135	131	1	2.060000	-4.512922	1	0.170000	NM_020765			30	30		677	654	1		1	1		0	0	135	0		1	6.172910e-01	0	8	0	40	0	30	677
UBR4	23352	broad.mit.edu	37	1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T	rs200832235	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375254.3	-	4	499	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T|UBR4_ENST00000375217.2_Missense_Mutation_p.A158T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	158					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)			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)		GGCAGCTTGGCGGATTTCATC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.0					ENST00000375254.3	0.990000	0.650000	9.500000e-01	7.500000e-01	0.860000	0.857011	0.860000	0.890000																										0				171						c.(472-474)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4		C	THR/ALA	0,4406		0,0,2203	141.0	140.0	140.0		472	5.4	1.0	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	158/5184	19525329	1,13005	2203	4300	6503	SO:0001583	missense	23352	5	121412	39				g.chr1:19525329C>T	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.472G>A	chr1.hg19:g.19525329C>T	ENSP00000364403:p.Ala158Thr	1					UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_Missense_Mutation_p.A158T	p.A158T	NM_020765.2	NP_065816.2	0	1	1	1.828421	Q5T4S7	UBR4_HUMAN		4	499	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	1	1	hg19	c.472G>A	CCDS189.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.2	4.384119	0.82792	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.28255	1.64;1.63;1.62;1.62	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.38175	1.15	0.80722	D	1	P	0.43431	0.807	B	0.26614	0.071	T	0.06356	-1.0831	10	0.66056	D	0.02	.	12.8274	0.57726	0.1632:0.8367:0.0:0.0	.	158	Q5T4S7	UBR4_HUMAN	T	158	ENSP00000364403:A158T;ENSP00000364416:A158T;ENSP00000364365:A158T;ENSP00000364374:A158T	ENSP00000364365:A158T	A	-	1	0	0	UBR4	19397916	19397916	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.885000	0.69736	2.536000	0.85505	0.563000	0.77884	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-11.677780	1	0.170000	NM_020765			45	45		489	481	1		1	1		0	0	101	0		1	8.680617e-01	0	6	0	35	0	45	489
MRTO4	51154	broad.mit.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4	1.000000	0.880000	1	9.400000e-01	0.970000	0.972419	0.970000	0.990000																										1	Substitution - Missense(1)	p.A161T(1)	breast(1)	8						c.(481-483)Gcc>Acc		mRNA turnover 4 homolog (S. cerevisiae)							30.0	35.0	33.0					1																	19584466		2203	4299	6502	SO:0001583	missense	51154	5	121394	36				g.chr1:19584466G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.481G>A	chr1.hg19:g.19584466G>A	ENSP00000364320:p.Ala161Thr	1						p.A161T	NM_016183.3	NP_057267.2	0	1	1	1.828421	Q9UKD2	MRT4_HUMAN		6	778	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	1	1	hg19	c.481G>A	CCDS191.1	1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	0	MRTO4	19457053	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_016183			55	55		259	255	1		1	1		0	0	61	0		1	1	0	48	0	97	0	55	259
MRTO4	51154	broad.mit.edu	37	1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	rs146948534	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	226					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507													.|||	12	0.00239617	0.0	0.0	5008	,	,		16911	0.0		0.0	False		,,,				2504	0.0123				GBM(192;2418 3032 7540 48714)	ENST00000330263.4	1.000000	0.900000	1	9.500000e-01	0.980000	0.978392	0.980000	0.990000																										0				8						c.(676-678)Gca>Aca		mRNA turnover 4 homolog (S. cerevisiae)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	69.0	69.0		676	0.7	0.0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense	MRTO4	NM_016183.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	226/240	19585280	1,13005	2203	4300	6503	SO:0001583	missense	51154	107	121412	49				g.chr1:19585280G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.676G>A	chr1.hg19:g.19585280G>A	ENSP00000364320:p.Ala226Thr	1						p.A226T	NM_016183.3	NP_057267.2	0	1	1	1.828421	Q9UKD2	MRT4_HUMAN		8	973	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	1	1	hg19	c.676G>A	CCDS191.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497115	0.26861	2.27E-4	0.0	ENSG00000053372	ENST00000330263	.	.	.	5.31	0.673	0.17941	5.31	0.673	0.17941	.	1.141820	0.06171	N	0.677709	T	0.39627	0.1085	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	9	0.14252	T	0.57	-6.6866	8.487	0.33078	0.3954:0.0:0.6046:0.0	.	226	Q9UKD2	MRT4_HUMAN	T	226	.	ENSP00000364320:A226T	A	+	1	0	0	MRTO4	19457867	19457867	0.002000	0.14202	0.005000	0.12908	0.180000	0.23129	1.055000	0.30467	0.308000	0.22923	0.591000	0.81541	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_016183			57	56		201	200	1		1	1		0	0	53	0		1	1	0	66	0	118	0	57	201
AKR7L	246181	broad.mit.edu	37	1	19600445	19600445	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19600445C>T	ENST00000429712.1	-	0	243				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTGTCTATCTCGGTGTGGCCG	0.701																																						ENST00000429712.1	1.000000	0.780000	9.900000e-01	8.800000e-01	0.950000	0.940601	0.950000	0.990000																										0				6								aldo-keto reductase family 7-like							32.0	35.0	34.0					1																	19600445		690	1591	2281			246181	0	0					g.chr1:19600445C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		chr1.hg19:g.19600445C>T		1					AKR7L_ENST00000420396.2_RNA				0	1	1	1.828421	Q8NHP1	ARK74_HUMAN		0	243	-			Q5U614	RNA	SNP	ENST00000429712.1	0	1	hg19			1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866840	0.51588	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.15	3.15	0.36227	3.15	3.15	0.36227	NADP-dependent oxidoreductase domain (3);	0.454501	0.21675	N	0.070814	T	0.50735	0.1633	.	.	.	0.21579	N	0.999631	P;D	0.60160	0.924;0.987	P;P	0.57152	0.622;0.814	T	0.35076	-0.9803	7	.	.	.	.	10.4071	0.44266	0.0:0.7984:0.2015:0.0	.	42;42	F8W7D9;Q8NHP1	.;ARK74_HUMAN	K	42	.	.	E	-	1	0	0	AKR7L	19473032	19473032	0.453000	0.25721	0.458000	0.27068	0.320000	0.28249	2.894000	0.48640	1.772000	0.52199	0.195000	0.17529	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_201252			19	19		55	55	0		1	0		0	0	9	0		9.999968e-01	0	0	0	0	1	0	19	55
AKR7A3	22977	broad.mit.edu	37	1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557																																						ENST00000361640.4	0.790000	0.280000	6.500000e-01	3.800000e-01	0.500000	0.525755	0.500000	0.490000																										0				13						c.(952-954)gCc>gTc		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							47.0	48.0	47.0					1																	19609268		2199	4300	6499	SO:0001583	missense	22977	0	0					g.chr1:19609268G>A	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.953C>T	chr1.hg19:g.19609268G>A	ENSP00000355377:p.Ala318Val	1						p.A318V	NM_012067.2	NP_036199.2	0	1	1	1.828421	O95154	ARK73_HUMAN		7	1493	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	1	1	hg19	c.953C>T	CCDS193.1	0	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307444	0.40795	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	1.52	0.23074	3.59	1.52	0.23074	NADP-dependent oxidoreductase domain (3);	0.108969	0.64402	D	0.000006	T	0.39436	0.1078	L	0.59967	1.855	0.49299	D	0.999775	D	0.69078	0.997	D	0.63113	0.911	T	0.04360	-1.0957	10	0.40728	T	0.16	.	10.741	0.46154	0.0:0.3737:0.6263:0.0	.	318	O95154	ARK73_HUMAN	V	318	ENSP00000355377:A318V	ENSP00000355377:A318V	A	-	2	0	0	AKR7A3	19481855	19481855	1.000000	0.71417	0.496000	0.27539	0.014000	0.08584	4.990000	0.63876	0.007000	0.14760	0.205000	0.17691	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	0	0	1		2	2	2	0		0	0	55		55	70	1	2.060000	-4.622944	1	0.170000	NM_012067			13	11		261	247	1		1	1		0	0	55	0		9.993602e-01	8.924182e-01	0	13	0	68	0	13	261
CDC73	79577	broad.mit.edu	37	1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	275	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|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 Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383																																						ENST00000367435.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(823-825)cCt>cTt		cell division cycle 73							52.0	45.0	48.0					1																	193117091		2203	4300	6503	SO:0001583	missense	79577	0	0					g.chr1:193117091C>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.824C>T	chr1.hg19:g.193117091C>T	ENSP00000356405:p.Pro275Leu	1						p.P275L	NM_024529.4	NP_078805.3	1	2	3	2.190011	Q6P1J9	CDC73_HUMAN		8	1008	+			A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	1	1	hg19	c.824C>T	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333084	0.60853	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.63744	-0.06	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.058977	0.64402	D	0.000001	T	0.66799	0.2826	M	0.79123	2.44	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63506	-0.6622	10	0.46703	T	0.11	-15.6887	19.3509	0.94384	0.0:1.0:0.0:0.0	.	275	Q6P1J9	CDC73_HUMAN	L	275	ENSP00000356405:P275L	ENSP00000356405:P275L	P	+	2	0	0	CDC73	191383714	191383714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.170000	0.58229	2.656000	0.90262	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_024529			37	37		112	112	1		1	1		0	0	22	0		1	1	0	71	0	114	0	37	112
KCNT2	343450	broad.mit.edu	37	1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000294725.9	-	26	4101	c.3186C>A	c.(3184-3186)caC>caA	p.H1062Q	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.H1038Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1062					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)			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						AAAGACCCAAGTGTTTCATTC	0.378																																						ENST00000294725.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(3184-3186)caC>caA		potassium channel, subfamily T, member 2							106.0	111.0	109.0					1																	196227349		2203	4300	6503	SO:0001583	missense	343450	0	0					g.chr1:196227349G>T	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.3186C>A	chr1.hg19:g.196227349G>T	ENSP00000294725:p.His1062Gln	1					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.H1038Q	p.H1062Q			1	2	3	2.190011	Q6UVM3	KCNT2_HUMAN		26	4101	-			Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	1	1	hg19	c.3186C>A	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295257	0.40594	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.24;2.51	5.96	4.07	0.47477	5.96	4.07	0.47477	.	0.089437	0.48767	D	0.000168	T	0.40222	0.1108	M	0.79805	2.47	0.80722	D	1	D;D;D;P	0.67145	0.996;0.973;0.973;0.716	D;P;P;B	0.66497	0.944;0.726;0.726;0.221	T	0.34950	-0.9808	10	0.51188	T	0.08	-18.9987	12.1512	0.54051	0.1908:0.0:0.8092:0.0	.	1027;1038;995;1062	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	1038;996;1062	ENSP00000356403:H1038Q;ENSP00000356401:H996Q;ENSP00000294725:H1062Q	ENSP00000294725:H1062Q	H	-	3	2	2	KCNT2	194493972	194493972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	1.518000	0.48934	0.643000	0.83706	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_198503			101	101		326	319	1		1	0		0	0	68	0		1	5.228109e-01	0	0	0	7	0	101	326
AKR7A2	8574	broad.mit.edu	37	1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	261					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582																																						ENST00000235835.3	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.957635	0.960000	0.990000																										0				9						c.(781-783)aGg>aTg		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							84.0	91.0	88.0					1																	19633502		2203	4300	6503	SO:0001583	missense	8574	0	0					g.chr1:19633502C>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.782G>T	chr1.hg19:g.19633502C>A	ENSP00000235835:p.Arg261Met	1					RNU6-1099P_ENST00000363533.1_RNA	p.R261M	NM_003689.3	NP_003680.2	0	1	1	1.828421	O43488	ARK72_HUMAN		5	803	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	1	1	hg19	c.782G>T	CCDS194.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275329	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04234	3.67;3.67	5.17	4.2	0.49525	5.17	4.2	0.49525	NADP-dependent oxidoreductase domain (3);	0.048149	0.85682	D	0.000000	T	0.11537	0.0281	M	0.74881	2.28	0.46678	D	0.999159	B	0.28128	0.201	B	0.37387	0.248	T	0.02320	-1.1177	10	0.62326	D	0.03	.	14.3693	0.66828	0.1478:0.8522:0.0:0.0	.	261	O43488	ARK72_HUMAN	M	261;216	ENSP00000235835:R261M;ENSP00000339084:R216M	ENSP00000235835:R261M	R	-	2	0	0	AKR7A2	19506089	19506089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.553000	0.86117	0.655000	0.94253	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	0	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-3.142702	1	0.170000	NM_003689			70	66		531	509	1		1	1		0	0	139	0		1	1	0	51	0	186	0	70	531
KCNT2	343450	broad.mit.edu	37	1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000294725.9	-	23	3569	c.2654G>T	c.(2653-2655)gGg>gTg	p.G885V	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G861V|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	885					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)			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						AAACACCCTCCCAGCAGCAAA	0.368																																						ENST00000294725.9	0.810000	0.230000	6.400000e-01	3.400000e-01	0.470000	0.497730	0.470000	0.450000																										0				97						c.(2653-2655)gGg>gTg		potassium channel, subfamily T, member 2							86.0	83.0	84.0					1																	196254830		2203	4300	6503	SO:0001583	missense	343450	0	0					g.chr1:196254830C>A	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.2654G>T	chr1.hg19:g.196254830C>A	ENSP00000294725:p.Gly885Val	1					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G861V	p.G885V			1	2	3	2.190011	Q6UVM3	KCNT2_HUMAN		23	3569	-			Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	1	1	hg19	c.2654G>T	CCDS1384.1	0	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588233	0.86851	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78707	-1.2;-1.2;-1.2	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.935;0.982;0.971;0.982;0.935	D	0.91274	0.5046	10	0.87932	D	0	-17.9902	18.8872	0.92383	0.0:1.0:0.0:0.0	.	885;843;861;811;885	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	861;811;885	ENSP00000356403:G861V;ENSP00000356401:G811V;ENSP00000294725:G885V	ENSP00000294725:G885V	G	-	2	0	0	KCNT2	194521453	194521453	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.201000	0.77847	2.835000	0.97688	0.591000	0.81541	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.078957	1	0.170000	NM_198503			9	9		242	236	0		1	0		0	0	35	0		9.938078e-01	3.971778e-02	0	0	0	8	0	9	242
CFH	3075	broad.mit.edu	37	1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000359637.2	+	2	136	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.P25H			P08603	CFAH_HUMAN	complement factor H	874	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)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			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						AATGAACTTCCTCCAAGAAGA	0.348																																						ENST00000359637.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999744	0.990000	1.000000																										0				101						c.(73-75)cCt>cAt		complement factor H							45.0	49.0	48.0					1																	196642123		2202	4300	6502	SO:0001583	missense	3075	0	0					g.chr1:196642123C>A	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.74C>A	chr1.hg19:g.196642123C>A	ENSP00000352658:p.Pro25His	1					CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.P25H	p.P25H			1	2	3	2.190011	P08603	CFAH_HUMAN		2	136	+			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	1	1	hg19	c.74C>A		1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517558	0.44763	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69040	1.33;1.25;-0.37	4.99	4.99	0.66335	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.81795	0.4898	M	0.80183	2.485	0.34804	D	0.73707	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;0.998	D	0.88067	0.2798	9	0.72032	D	0.01	.	13.7649	0.62988	0.0:1.0:0.0:0.0	.	25;25;25;25	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	25	ENSP00000356399:P25H;ENSP00000402656:P25H;ENSP00000352658:P25H	ENSP00000352658:P25H	P	+	2	0	0	CFH	194908746	194908746	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	3.997000	0.57016	2.321000	0.78463	0.462000	0.41574	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_000186			33	32		233	228	1		1	1		0	0	51	0		1	1	0	33	0	243	0	33	233
CFH	3075	broad.mit.edu	37	1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000359637.2	+	8	1144	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000367429.4_Missense_Mutation_p.A425V			P08603	CFAH_HUMAN	complement factor H	425	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)			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						CTTCCAAAAGCGCAGACCACA	0.433																																						ENST00000359637.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(1081-1083)gCg>gTg		complement factor H							106.0	90.0	95.0					1																	196659307		2203	4300	6503	SO:0001583	missense	3075	1	121366	29				g.chr1:196659307C>T	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.1082C>T	chr1.hg19:g.196659307C>T	ENSP00000352658:p.Ala361Val	1					CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000367429.4_Missense_Mutation_p.A425V	p.A361V			1	2	3	2.190011	P08603	CFAH_HUMAN		8	1144	+			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	1	1	hg19	c.1082C>T		1	.	.	.	.	.	.	.	.	.	.	c	10.93	1.491258	0.26774	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	-9.33	0.00639	4.69	-9.33	0.00639	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33265	0.0857	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.34161	0.243;0.439;0.234;0.034	B;B;B;B	0.27380	0.074;0.079;0.026;0.011	T	0.19353	-1.0308	9	0.31617	T	0.26	.	7.1467	0.25587	0.214:0.0964:0.5946:0.095	.	361;425;425;425	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	425;425;425;361	ENSP00000356399:A425V;ENSP00000402656:A425V;ENSP00000352658:A361V	ENSP00000352658:A361V	A	+	2	0	0	CFH	194925930	194925930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.015000	0.03637	-1.894000	0.01105	-3.539000	0.00031	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-4.822793	1	0.170000	NM_000186			80	79		249	246	1		1	1		0	0	66	0		1	1	0	23	0	286	0	80	249
CFH	3075	broad.mit.edu	37	1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	533	Sushi 9. {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)			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						gacacattGGACTATGAATGC	0.363																																						ENST00000367429.4	0.750000	0.370000	6.500000e-01	4.500000e-01	0.540000	0.560270	0.540000	0.540000																										0				101						c.(1597-1599)gAc>gTc		complement factor H							247.0	231.0	236.0					1																	196684801		2203	4300	6503	SO:0001583	missense	3075	0	0					g.chr1:196684801A>T	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.1598A>T	chr1.hg19:g.196684801A>T	ENSP00000356399:p.Asp533Val	1						p.D533V	NM_000186.3	NP_000177.2	1	2	3	2.190011	P08603	CFAH_HUMAN		11	1838	+			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	1	1	hg19	c.1598A>T	CCDS1385.1	0	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985538	0.35036	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	5.65	4.51	0.55191	5.65	4.51	0.55191	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60818	0.2298	M	0.87456	2.885	0.80722	D	1	P	0.37370	0.592	B	0.34452	0.183	T	0.58002	-0.7713	9	0.15499	T	0.54	.	8.9973	0.36061	0.8355:0.0:0.0:0.1645	.	533	P08603	CFAH_HUMAN	V	533	ENSP00000356399:D533V	ENSP00000356399:D533V	D	+	2	0	0	CFH	194951424	194951424	0.963000	0.33076	0.949000	0.38748	0.025000	0.11179	2.018000	0.40991	0.943000	0.37553	0.533000	0.62120	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	0	0	1		2	9	2	1		1	0	124		124	123	1	2.060000	-4.857476	1	0.170000	NM_000186			30	30		671	662	0		1	0		1	0	124	0		1	7.520562e-01	0	2	0	253	0	30	671
CFHR1	3078	broad.mit.edu	37	1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	288	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368																																						ENST00000320493.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(862-864)Ctt>Att		complement factor H-related 1							125.0	146.0	139.0					1																	196800998		1891	4135	6026	SO:0001583	missense	3078	0	0					g.chr1:196800998C>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.862C>A	chr1.hg19:g.196800998C>A	ENSP00000314299:p.Leu288Ile	1					CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I|CFHR2_ENST00000367421.3_Intron	p.L288I	NM_002113.2	NP_002104.2	1	2	3	2.190011	Q03591	FHR1_HUMAN		6	950	+			A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	1	1	hg19	c.862C>A	CCDS1386.1	1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387448	0.01194	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64618	-0.11;-0.11	2.77	-5.55	0.02536	2.77	-5.55	0.02536	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33904	0.0879	L	0.33668	1.02	0.09310	N	1	P;B	0.34892	0.474;0.234	B;B	0.28232	0.073;0.087	T	0.27157	-1.0082	9	0.10377	T	0.69	.	0.6071	0.00755	0.3528:0.1825:0.1121:0.3526	.	288;1189	Q03591;A8K5T0	FHR1_HUMAN;.	I	229;288	ENSP00000356394:L229I;ENSP00000314299:L288I	ENSP00000314299:L288I	L	+	1	0	0	CFHR1	195067621	195067621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.446000	0.00232	-3.448000	0.00161	-1.639000	0.00775	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	1	0	1		2	2	2	0		0	0	63		63	69	1	2.060000	-20.000000	1	0.170000	NM_002113			109	107		200	194	1		1			0	0	63	0		1	0	0	0	0	0	0	109	200
CFHR2	3080	broad.mit.edu	37	1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388																																						ENST00000367415.5	1.000000	0.190000	1	2.700000e-01	0.390000	0.508634	0.390000	0.340000																										0				6						c.(379-381)aTt>aGt		complement factor H-related 2							130.0	113.0	118.0					1																	196920108		2203	4300	6503	SO:0001583	missense	3080	0	0					g.chr1:196920108T>G	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.380T>G	chr1.hg19:g.196920108T>G	ENSP00000356385:p.Ile127Ser	1					CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S	p.I127S	NM_005666.2	NP_005657.1	1	3	4	2.193440	P36980	FHR2_HUMAN		3	480	+			Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	1	1	hg19	c.380T>G	CCDS30959.1	0	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962534	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.67698	-0.28;-0.28	2.77	1.59	0.23543	2.77	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	0.234704	0.21634	N	0.071425	T	0.75679	0.3882	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62153	-0.6914	10	0.33940	T	0.23	.	4.5334	0.12017	0.0:0.1685:0.0:0.8315	.	127	P36980	FHR2_HUMAN	S	127	ENSP00000356391:I127S;ENSP00000356385:I127S	ENSP00000356385:I127S	I	+	2	0	0	CFHR2	195186731	195186731	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.947000	0.29082	0.268000	0.21939	0.352000	0.21897	ATT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.432938	1	0.170000	NM_005666			12	13		444	431	0		1			0	0	56	0		9.989875e-01	0	0	0	0	0	0	12	444
F13B	2165	broad.mit.edu	37	1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				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						GGTATAACCAGCCAAGCAGAA	0.398																																						ENST00000367412.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999804	0.990000	1.000000																										0				66						c.(181-183)gCt>gTt		coagulation factor XIII, B polypeptide							148.0	157.0	154.0					1																	197032070		2203	4300	6503	SO:0001583	missense	2165	0	0					g.chr1:197032070G>A	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.182C>T	chr1.hg19:g.197032070G>A	ENSP00000356382:p.Ala61Val	1						p.A61V	NM_001994.2	NP_001985.2	1	3	4	2.193440	P05160	F13B_HUMAN		2	225	-			A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	1	1	hg19	c.182C>T	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080272	0.55753	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.58	4.67	0.58626	5.58	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (2);	0.256433	0.20618	N	0.088835	T	0.56232	0.1971	L	0.52364	1.645	0.47862	D	0.999535	B	0.26400	0.148	B	0.31614	0.133	T	0.49854	-0.8895	10	0.18710	T	0.47	.	12.4304	0.55571	0.1397:0.0:0.8603:0.0	.	61	P05160	F13B_HUMAN	V	61	ENSP00000356382:A61V	ENSP00000356382:A61V	A	-	2	0	0	F13B	195298693	195298693	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.868000	0.48436	1.363000	0.46019	0.655000	0.94253	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	1	0	1		2	2	2	0		0	0	163		163	160	1	2.060000	-20.000000	1	0.170000	NM_001994			92	90		840	831	1		1			0	0	163	0		1	0	0	0	0	0	0	92	840
ASPM	259266	broad.mit.edu	37	1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2918	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999923	0.990000	1.000000																										0				165						c.(8752-8754)Gct>Tct		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							55.0	57.0	56.0					1																	197069629		2203	4296	6499	SO:0001583	missense	259266	0	0					g.chr1:197069629C>A	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.8752G>T	chr1.hg19:g.197069629C>A	ENSP00000356379:p.Ala2918Ser	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A2918S	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	9008	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.8752G>T	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081809	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72394	-0.65	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000004	T	0.81202	0.4773	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.642;0.998	T	0.77440	-0.2587	10	0.20519	T	0.43	.	13.7795	0.63075	0.1536:0.8464:0.0:0.0	.	904;2918	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2918;904	ENSP00000356379:A2918S	ENSP00000356376:A904S	A	-	1	0	0	ASPM	195336252	195336252	0.993000	0.37304	0.996000	0.52242	0.374000	0.29953	0.671000	0.25172	2.530000	0.85305	0.563000	0.77884	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_018136			28	28		179	179	1		1	0		0	0	38	0		1	1.990442e-01	0	1	0	5	0	28	179
ASPM	259266	broad.mit.edu	37	1	197071117	197071117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2422	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(7264-7266)Ctg>Ttg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							103.0	106.0	105.0					1																	197071117		2203	4299	6502	SO:0001819	synonymous_variant	259266	0	0					g.chr1:197071117G>A	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.7264C>T	chr1.hg19:g.197071117G>A		1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.L2422L	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	7520	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	1	1	hg19	c.7264C>T	CCDS1389.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_018136			103	101		559	553	1		1	0		0	0	102	0		1	6.631933e-02	0	0	0	3	0	103	559
ASPM	259266	broad.mit.edu	37	1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1984	IQ 13. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(5950-5952)Cat>Aat		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							168.0	165.0	166.0					1																	197072431		2203	4299	6502	SO:0001583	missense	259266	0	0					g.chr1:197072431G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5950C>A	chr1.hg19:g.197072431G>T	ENSP00000356379:p.His1984Asn	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.H1984N	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	6206	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.5950C>A	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501171	0.64298	.	.	ENSG00000066279	ENST00000367409	T	0.27720	1.65	5.6	-3.33	0.04958	5.6	-3.33	0.04958	.	0.583413	0.16663	N	0.204686	T	0.42314	0.1197	M	0.75264	2.295	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	T	0.51834	-0.8655	10	0.46703	T	0.11	.	15.0708	0.72034	0.2856:0.0:0.7144:0.0	.	1984	Q8IZT6	ASPM_HUMAN	N	1984	ENSP00000356379:H1984N	ENSP00000356379:H1984N	H	-	1	0	0	ASPM	195339054	195339054	0.980000	0.34600	0.072000	0.20136	0.991000	0.79684	0.295000	0.19065	-0.614000	0.05687	0.645000	0.84053	CAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_018136			180	176		678	665	1		1	0		0	0	129	0		1	4.438534e-02	0	1	0	1	0	180	678
ASPM	259266	broad.mit.edu	37	1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(5848-5850)Gcg>Tcg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							221.0	215.0	217.0					1																	197072533		2203	4300	6503	SO:0001583	missense	259266	0	0					g.chr1:197072533C>A	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.5848G>T	chr1.hg19:g.197072533C>A	ENSP00000356379:p.Ala1950Ser	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A1950S	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	6104	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.5848G>T	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473039	0.26423	.	.	ENSG00000066279	ENST00000367409	T	0.70516	-0.49	5.62	4.71	0.59529	5.62	4.71	0.59529	.	0.240301	0.35013	N	0.003508	T	0.59569	0.2203	L	0.45470	1.425	0.37067	D	0.898363	B	0.22909	0.077	B	0.21360	0.034	T	0.60566	-0.7238	10	0.40728	T	0.16	.	6.0909	0.19993	0.2775:0.5876:0.0:0.1349	.	1950	Q8IZT6	ASPM_HUMAN	S	1950	ENSP00000356379:A1950S	ENSP00000356379:A1950S	A	-	1	0	0	ASPM	195339156	195339156	0.133000	0.22466	0.040000	0.18447	0.002000	0.02628	0.843000	0.27640	1.372000	0.46190	-0.158000	0.13435	GCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	203		203	202	1	2.060000	-20.000000	1	0.170000	NM_018136			286	282		841	818	1		1	0		0	0	203	0		1	2.690158e-01	0	1	0	3	0	286	841
ASPM	259266	broad.mit.edu	37	1	197072923	197072923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1820	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTGATTAGCTGGCGTACT	0.358																																						ENST00000367409.4	1.000000	0.630000	1	7.500000e-01	0.910000	0.891273	0.910000	1.000000																										0				165						c.(5458-5460)Cta>Tta		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	96.0	95.0					1																	197072923		2202	4298	6500	SO:0001819	synonymous_variant	259266	0	0					g.chr1:197072923G>A	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.5458C>T	chr1.hg19:g.197072923G>A		1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.L1820L	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	5714	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	1	1	hg19	c.5458C>T	CCDS1389.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_018136			39	37		553	548	0		1	0		0	0	90	0		1	4.020882e-02	0	0	0	5	0	39	553
ASPM	259266	broad.mit.edu	37	1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1456					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				165						c.(4366-4368)tgG>tgA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							79.0	76.0	77.0					1																	197074013		2203	4296	6499	SO:0001587	stop_gained	259266	0	0					g.chr1:197074013C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4368G>A	chr1.hg19:g.197074013C>T	ENSP00000356379:p.Trp1456*	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.W1456*	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		18	4624	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	0	1	hg19	c.4368G>A	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	44	11.166462	0.99525	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.172650	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	.	.	.	X	1456	.	ENSP00000356379:W1456X	W	-	3	0	0	ASPM	195340636	195340636	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	5.308000	0.65768	2.636000	0.89361	0.484000	0.47621	TGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_018136			29	29		181	179	1		1	0		0	0	41	0		1	0	0	0	0	1	0	29	181
ASPM	259266	broad.mit.edu	37	1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I|ASPM_ENST00000367408.1_Missense_Mutation_p.L510I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1260					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338																																						ENST00000367409.4	1.000000	0.560000	1	7.500000e-01	0.990000	0.910441	0.990000	1.000000																										0				165						c.(3778-3780)Ctt>Att		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							74.0	71.0	72.0					1																	197091137		2203	4298	6501	SO:0001583	missense	259266	0	0					g.chr1:197091137G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3778C>A	chr1.hg19:g.197091137G>T	ENSP00000356379:p.Leu1260Ile	1					ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I|ASPM_ENST00000367408.1_Missense_Mutation_p.L510I	p.L1260I	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		16	4034	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.3778C>A	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981218	0.93044	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61392	0.11;0.11;0.11	5.74	5.74	0.90152	5.74	5.74	0.90152	Calponin homology domain (2);	0.000000	0.64402	D	0.000007	T	0.80654	0.4664	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.82592	-0.0381	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	1260;1260	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1260;1260;510	ENSP00000356379:L1260I;ENSP00000294732:L1260I;ENSP00000356378:L510I	ENSP00000294732:L1260I	L	-	1	0	0	ASPM	195357760	195357760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.960000	0.93117	2.714000	0.92807	0.585000	0.79938	CTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-18.720130	1	0.170000	NM_018136			14	14		184	182	0		1	0		0	0	35	0		9.997724e-01	3.193504e-02	0	1	0	3	0	14	184
ASPM	259266	broad.mit.edu	37	1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000294732.7_Missense_Mutation_p.A964V|ASPM_ENST00000367408.1_Missense_Mutation_p.A214V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	964	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)				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						ATTTGTAACGGCAAAATCAAA	0.398																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(2890-2892)gCc>gTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							118.0	113.0	115.0					1																	197097665		2203	4300	6503	SO:0001583	missense	259266	0	0					g.chr1:197097665G>A	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.2891C>T	chr1.hg19:g.197097665G>A	ENSP00000356379:p.Ala964Val	1					ASPM_ENST00000294732.7_Missense_Mutation_p.A964V|ASPM_ENST00000367408.1_Missense_Mutation_p.A214V	p.A964V	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		10	3147	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.2891C>T	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.643470	0.96704	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;0.28;0.28	5.77	5.77	0.91146	5.77	5.77	0.91146	Calponin homology domain (4);	0.076806	0.53938	D	0.000049	T	0.75824	0.3902	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.87578	0.859;0.998	T	0.75513	-0.3291	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	964;964	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	964;964;214	ENSP00000356379:A964V;ENSP00000294732:A964V;ENSP00000356378:A214V	ENSP00000294732:A964V	A	-	2	0	0	ASPM	195364288	195364288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		20	2	2	1		1	1	96		96	94	1	2.060000	-3.078359	1	0.170000	NM_018136			94	91		497	486	1		1	1		1	0	96	0		1	2.480981e-01	0	3	0	3	0	94	497
ASPM	259266	broad.mit.edu	37	1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000294732.7_Missense_Mutation_p.R854H|ASPM_ENST00000367408.1_Missense_Mutation_p.R104H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					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.R854H(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						CCAAAGTAGGCGATTCAGAAT	0.408																																						ENST00000367409.4	1.000000	0.120000	1	1.800000e-01	0.280000	0.428793	0.280000	0.230000																										1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	165						c.(2560-2562)cGc>cAc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							155.0	141.0	146.0					1																	197099113		2203	4300	6503	SO:0001583	missense	259266	0	0					g.chr1:197099113C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2561G>A	chr1.hg19:g.197099113C>T	ENSP00000356379:p.Arg854His	1					ASPM_ENST00000294732.7_Missense_Mutation_p.R854H|ASPM_ENST00000367408.1_Missense_Mutation_p.R104H	p.R854H	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		8	2817	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	0	1	hg19	c.2561G>A	CCDS1389.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.478088	0.96291	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60920	0.15;0.15;0.15	5.47	5.47	0.80525	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76315	-0.3004	10	0.46703	T	0.11	.	19.2852	0.94067	0.0:1.0:0.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	854;854;104	ENSP00000356379:R854H;ENSP00000294732:R854H;ENSP00000356378:R104H	ENSP00000294732:R854H	R	-	2	0	0	ASPM	195365736	195365736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.915292	1	0.170000	NM_018136			9	9		478	475	0		1	0		0	0	104	0		9.940857e-01	1.156790e-02	0	0	0	8	0	9	478
ASPM	259266	broad.mit.edu	37	1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	517					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343																																						ENST00000367409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(1549-1551)Gca>Aca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							172.0	176.0	174.0					1																	197111833		2203	4300	6503	SO:0001583	missense	259266	0	0					g.chr1:197111833C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1549G>A	chr1.hg19:g.197111833C>T	ENSP00000356379:p.Ala517Thr	1					ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	p.A517T	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		3	1805	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.1549G>A	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004738	0.54254	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59906	0.23;1.49	5.44	3.31	0.37934	5.44	3.31	0.37934	.	0.252448	0.34460	N	0.003950	T	0.50429	0.1615	M	0.66939	2.045	0.26256	N	0.97866	B;B	0.18461	0.012;0.028	B;B	0.20577	0.011;0.03	T	0.41197	-0.9522	10	0.33141	T	0.24	.	6.7476	0.23470	0.3664:0.5422:0.0:0.0914	.	517;517	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	517	ENSP00000356379:A517T;ENSP00000294732:A517T	ENSP00000294732:A517T	A	-	1	0	0	ASPM	195378456	195378456	1.000000	0.71417	0.905000	0.35620	0.985000	0.73830	4.067000	0.57527	1.437000	0.47472	-0.148000	0.13756	GCA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_018136			162	158		845	831	1		1	0		0	0	124	0		1	2.507616e-01	0	1	0	5	0	162	845
ASPM	259266	broad.mit.edu	37	1	197112583	197112583	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197112583A>C	ENST00000367409.4	-	3	1055	c.799T>G	c.(799-801)Tca>Gca	p.S267A	ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	267					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAACTTTTGAAACGTTGGCA	0.378																																						ENST00000367409.4	1.000000	0.210000	1	2.800000e-01	0.380000	0.502532	0.380000	0.340000																										0				165						c.(799-801)Tca>Gca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							98.0	95.0	96.0					1																	197112583		2203	4300	6503	SO:0001583	missense	259266	0	0					g.chr1:197112583A>C	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.799T>G	chr1.hg19:g.197112583A>C	ENSP00000356379:p.Ser267Ala	1					ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	p.S267A	NM_018136.4	NP_060606.3	1	3	4	2.193440	Q8IZT6	ASPM_HUMAN		3	1055	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.799T>G	CCDS1389.1	0	.	.	.	.	.	.	.	.	.	.	A	3.538	-0.094337	0.07053	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57595	0.39;1.65	5.21	1.28	0.21552	5.21	1.28	0.21552	.	1.694550	0.03164	N	0.169747	T	0.39091	0.1065	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	0.14615	-1.0466	10	0.35671	T	0.21	.	4.1352	0.10167	0.4431:0.3714:0.0741:0.1115	.	267;267	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	A	267	ENSP00000356379:S267A;ENSP00000294732:S267A	ENSP00000294732:S267A	S	-	1	0	0	ASPM	195379206	195379206	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.229000	0.17833	0.024000	0.15214	0.514000	0.50259	TCA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-13.492420	1	0.170000	NM_018136			16	16		595	586	0		1	0		0	0	104	0		9.999231e-01	2.373440e-03	0	0	0	3	0	16	595
ZBTB41	360023	broad.mit.edu	37	1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	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	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)			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						ATCCTTTTCACTTTGTTCTTC	0.418																																						ENST00000367405.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(970-972)aGt>aAt		zinc finger and BTB domain containing 41							136.0	131.0	133.0					1																	197168633		2202	4300	6502	SO:0001583	missense	360023	0	0					g.chr1:197168633C>T		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.971G>A	chr1.hg19:g.197168633C>T	ENSP00000356375:p.Ser324Asn	1					CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	p.S324N	NM_194314.2	NP_919290.2	1	3	4	2.193440	Q5SVQ8	ZBT41_HUMAN		1	1039	-			A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	1	1	hg19	c.971G>A	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889621	0.52014	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.000000	0.47093	U	0.000248	T	0.06096	0.0158	N	0.24115	0.695	0.36069	D	0.84197	P	0.47409	0.895	B	0.41332	0.354	T	0.48885	-0.8995	10	0.32370	T	0.25	.	16.9144	0.86148	0.0:1.0:0.0:0.0	.	324	Q5SVQ8	ZBT41_HUMAN	N	324	ENSP00000356375:S324N	ENSP00000356375:S324N	S	-	2	0	0	ZBTB41	195435256	195435256	0.998000	0.40836	0.960000	0.40013	0.873000	0.50193	2.775000	0.47702	1.947000	0.56498	0.298000	0.19748	AGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_194314			93	92		441	433	1		1	1		0	0	93	0		1	9.814212e-01	0	6	0	26	0	93	441
ZBTB41	360023	broad.mit.edu	37	1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	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	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(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						GTGAAGAGCTTCAGGAGTTGG	0.383																																						ENST00000367405.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(136-138)gAa>gCa		zinc finger and BTB domain containing 41							101.0	106.0	104.0					1																	197169467		2203	4300	6503	SO:0001583	missense	360023	0	0					g.chr1:197169467T>G		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.137A>C	chr1.hg19:g.197169467T>G	ENSP00000356375:p.Glu46Ala	1					CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	p.E46A	NM_194314.2	NP_919290.2	1	3	4	2.193440	Q5SVQ8	ZBT41_HUMAN		1	205	-			A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	1	1	hg19	c.137A>C	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612969	0.28712	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.96	3.83	0.44106	4.96	3.83	0.44106	.	0.494524	0.16423	N	0.215093	T	0.03651	0.0104	N	0.14661	0.345	0.28586	N	0.9099	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	2.4251	0.04457	0.1308:0.0884:0.2048:0.5761	.	46	Q5SVQ8	ZBT41_HUMAN	A	46	ENSP00000356375:E46A	ENSP00000356375:E46A	E	-	2	0	0	ZBTB41	195436090	195436090	0.989000	0.36119	0.794000	0.32065	0.968000	0.65278	1.307000	0.33516	0.732000	0.32470	0.254000	0.18369	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_194314			80	77		424	417	1		1	1		0	0	106	0		1	9.925860e-01	0	10	0	32	0	80	424
CRB1	23418	broad.mit.edu	37	1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367400.3	+	2	224	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	30	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						TGCAATAAAAACAACACCAGG	0.313																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(88-90)aAc>aCc		crumbs family member 1, photoreceptor morphogenesis associated							43.0	43.0	43.0					1																	197297570		2198	4300	6498	SO:0001583	missense	23418	0	0					g.chr1:197297570A>C		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.89A>C	chr1.hg19:g.197297570A>C	ENSP00000356370:p.Asn30Thr	1					CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	p.N30T	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		2	224	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	1	1	hg19	c.89A>C	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259173	0.39995	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91996	-2.95;-1.72;-2.17	5.52	5.52	0.82312	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94961	0.8370	L	0.60957	1.885	0.80722	D	1	D;B;D;D	0.69078	0.997;0.066;0.997;0.996	D;B;D;P	0.77004	0.989;0.099;0.989;0.815	D	0.95103	0.8232	9	0.56958	D	0.05	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	30;30;30;55	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	T	30	ENSP00000438091:N30T;ENSP00000356370:N30T;ENSP00000356369:N30T	ENSP00000356369:N30T	N	+	2	0	0	CRB1	195564193	195564193	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.234000	0.72326	2.216000	0.71823	0.533000	0.62120	AAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_201253			54	54		196	193	1		1	0		0	0	53	0		1	4.830918e-02	0	0	0	2	0	54	196
CRB1	23418	broad.mit.edu	37	1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367400.3	+	2	529	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	132	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						CCCTATTTATCCTGTCTGCAT	0.512																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				132						c.(394-396)Cct>Tct		crumbs family member 1, photoreceptor morphogenesis associated							94.0	80.0	85.0					1																	197297875		2203	4300	6503	SO:0001583	missense	23418	0	0					g.chr1:197297875C>T		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.394C>T	chr1.hg19:g.197297875C>T	ENSP00000356370:p.Pro132Ser	1					CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S	p.P132S	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		2	529	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	1	1	hg19	c.394C>T	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974088	0.18736	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.91577	3.21;-2.22;-1.74;-2.87	5.73	5.73	0.89815	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90164	0.6926	N	0.12887	0.27	0.80722	D	1	D;D;B;D;D	0.89917	0.976;0.966;0.163;1.0;1.0	P;P;B;D;D	0.85130	0.772;0.64;0.102;0.997;0.986	D	0.91156	0.4957	9	0.72032	D	0.01	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	132;63;132;132;157	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	S	63;132;132;132	ENSP00000438786:P63S;ENSP00000438091:P132S;ENSP00000356370:P132S;ENSP00000356369:P132S	ENSP00000356369:P132S	P	+	1	0	0	CRB1	195564498	195564498	.	.	0.087000	0.20705	0.095000	0.18619	.	.	2.854000	0.98071	0.655000	0.94253	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_201253			27	26		132	125	1		1	0		0	0	41	0		1	0	0	0	0	1	0	27	132
CRB1	23418	broad.mit.edu	37	1	197298117	197298117	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367400.3	+	2	771	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000538660.1_Silent_p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	212	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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						CTTGTATCTGTCCCCACAATT	0.418																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(634-636)tgT>tgC		crumbs family member 1, photoreceptor morphogenesis associated							51.0	49.0	50.0					1																	197298117		2203	4300	6503	SO:0001819	synonymous_variant	23418	0	0					g.chr1:197298117T>C		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.636T>C	chr1.hg19:g.197298117T>C		1					CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000538660.1_Silent_p.C212C	p.C212C	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		2	771	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	1	1	hg19	c.636T>C	CCDS1390.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_201253			53	53		145	143	0		1			0	0	40	0		1	0	0	0	0	0	0	53	145
CRB1	23418	broad.mit.edu	37	1	197316584	197316584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367400.3	+	4	1098	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000538660.1_Silent_p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	321	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						ACAGTGTTGACAATTACACTT	0.408																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(961-963)gaC>gaT		crumbs family member 1, photoreceptor morphogenesis associated							155.0	124.0	135.0					1																	197316584		2203	4300	6503	SO:0001819	synonymous_variant	23418	0	0					g.chr1:197316584C>T		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.963C>T	chr1.hg19:g.197316584C>T		1					CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000538660.1_Silent_p.D321D	p.D321D	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		4	1098	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	1	1	hg19	c.963C>T	CCDS1390.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_201253			62	60		346	341	1		1			0	0	78	0		1	0	0	0	0	0	0	62	346
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	Laminin G-like 1. {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.A593T(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						GAAATGCATCGCGAAAGCTCC	0.468																																						ENST00000367400.3	1.000000	0.840000	1	9.600000e-01	0.990000	0.983657	0.990000	1.000000																										1	Substitution - Missense(1)	p.A593T(1)	kidney(1)	132						c.(1777-1779)Gcg>Acg		crumbs family member 1, photoreceptor morphogenesis associated							117.0	111.0	113.0					1																	197390735		2203	4300	6503	SO:0001583	missense	23418	0	0					g.chr1:197390735G>A		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.1777G>A	chr1.hg19:g.197390735G>A	ENSP00000356370:p.Ala593Thr	1					CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367397.1_5'UTR	p.A593T	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		6	1912	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	1	1	hg19	c.1777G>A	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	0	CRB1	195657358	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-14.978730	1	0.170000	NM_201253			61	59		683	678	0		1			0	0	110	0		1	0	0	0	0	0	0	61	683
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367400.3	+	7	2359	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	742	Laminin G-like 2. {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)			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						CCTCTCCATGTTTGTCCGAAC	0.473																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(2224-2226)Ttt>Ctt		crumbs family member 1, photoreceptor morphogenesis associated							85.0	75.0	79.0					1																	197396679		2203	4300	6503	SO:0001583	missense	23418	0	0					g.chr1:197396679T>C		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.2224T>C	chr1.hg19:g.197396679T>C	ENSP00000356370:p.Phe742Leu	1					CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L	p.F742L	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		7	2359	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	1	1	hg19	c.2224T>C	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223179	0.58668	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.75	3.43	0.39272	5.75	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.81327	0.4799	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D	0.76494	0.999;0.99;0.889;0.997	D;D;B;D	0.77557	0.99;0.979;0.399;0.97	T	0.75952	-0.3136	9	0.10111	T	0.7	.	10.1145	0.42583	0.0:0.1356:0.0:0.8644	.	673;630;391;742	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	673;742;630;223;123;391	ENSP00000438786:F673L;ENSP00000356370:F742L;ENSP00000356369:F630L;ENSP00000444556:F223L;ENSP00000356367:F123L	ENSP00000356367:F123L	F	+	1	0	0	CRB1	195663302	195663302	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.662000	0.61525	0.438000	0.26450	-0.297000	0.09499	TTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_201253			63	62		204	200	1		1			0	0	47	0		1	0	0	0	0	0	0	63	204
CRB1	23418	broad.mit.edu	37	1	197397131	197397131	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367400.3	+	7	2811	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000544212.1_Splice_Site_p.K373N|CRB1_ENST00000367397.1_Splice_Site_p.K273N|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	892	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						ACAGCTGCAAGGTAATGATTA	0.323																																						ENST00000367400.3	1.000000	0.110000	1	1.900000e-01	0.300000	0.445192	0.300000	0.250000																										0				132						c.(2674-2676)aaG>aaT		crumbs family member 1, photoreceptor morphogenesis associated							52.0	50.0	51.0					1																	197397131		2203	4300	6503	SO:0001630	splice_region_variant	23418	0	0					g.chr1:197397131G>T		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.2676+1G>T	chr1.hg19:g.197397131G>T		1					CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000544212.1_Splice_Site_p.K373N|CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Splice_Site_p.K273N	p.K892N	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		7	2811	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	0	1	hg19	c.2676G>T	CCDS1390.1	0	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393892	0.11638	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.91464	-2.05;-2.85;-2.85;-2.85;-2.85	4.98	4.06	0.47325	4.98	4.06	0.47325	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85159	0.5633	L	0.28054	0.825	0.43598	D	0.995957	P;B;B;P	0.47841	0.51;0.277;0.055;0.901	B;B;B;P	0.47941	0.333;0.1;0.041;0.562	T	0.80500	-0.1355	9	0.21540	T	0.41	.	8.4454	0.32838	0.0786:0.0:0.7683:0.1531	.	823;780;541;892	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	823;892;780;373;273;541	ENSP00000438786:K823N;ENSP00000356370:K892N;ENSP00000356369:K780N;ENSP00000444556:K373N;ENSP00000356367:K273N	ENSP00000356367:K273N	K	+	3	2	2	CRB1	195663754	195663754	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	1.771000	0.38542	1.209000	0.43321	0.555000	0.69702	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	0	0	0		2	2	2	0		0	0	43		43	42	1	2.060000	-6.559204	1	0.170000	NM_201253	Missense_Mutation		6	6		308	305	0		1			0	0	43	0		9.643167e-01	0	0	0	0	0	0	6	308
CRB1	23418	broad.mit.edu	37	1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367400.3	+	9	3878	c.3743T>G	c.(3742-3744)tTt>tGt	p.F1248C	CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1248	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						ACAGGAAAATTTTGCAGGTGA	0.408																																						ENST00000367400.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997188	0.990000	1.000000																										0				132						c.(3742-3744)tTt>tGt		crumbs family member 1, photoreceptor morphogenesis associated							31.0	28.0	29.0					1																	197404736		2200	4294	6494	SO:0001583	missense	23418	0	0					g.chr1:197404736T>G		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.3743T>G	chr1.hg19:g.197404736T>G	ENSP00000356370:p.Phe1248Cys	1					RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C	p.F1248C	NM_201253.2	NP_957705.1	1	3	4	2.193440	P82279	CRUM1_HUMAN		9	3878	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	1	1	hg19	c.3743T>G	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212885	0.58452	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.91631	-2.88;-2.1;-2.88;-2.88;-2.88;-2.88	5.19	4.04	0.47022	5.19	4.04	0.47022	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94258	0.8156	L	0.56769	1.78	0.33311	D	0.566073	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;0.998	P;D;D;D;P	0.85130	0.817;0.961;0.997;0.911;0.872	D	0.94319	0.7552	9	0.39692	T	0.17	.	11.3341	0.49494	0.1362:0.0:0.0:0.8638	.	712;1224;1136;897;1248	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	C	1224;712;1248;1136;729;629;897	ENSP00000438786:F1224C;ENSP00000438091:F712C;ENSP00000356370:F1248C;ENSP00000356369:F1136C;ENSP00000444556:F729C;ENSP00000356367:F629C	ENSP00000356367:F629C	F	+	2	0	0	CRB1	195671359	195671359	0.948000	0.32251	0.967000	0.41034	0.975000	0.68041	4.295000	0.59049	0.787000	0.33731	0.528000	0.53228	TTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-19.935950	1	0.170000	NM_201253			12	11		80	80	1		1			0	0	25	0		9.992873e-01	0	0	0	0	0	0	12	80
C1orf53	388722	broad.mit.edu	37	1	197875015	197875015	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448																																						ENST00000367393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(352-354)tcT>tcC		chromosome 1 open reading frame 53							172.0	164.0	167.0					1																	197875015		2034	4207	6241	SO:0001819	synonymous_variant	388722	0	0					g.chr1:197875015T>C	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.354T>C	chr1.hg19:g.197875015T>C		1					C1orf53_ENST00000542800.1_3'UTR	p.S118S	NM_001024594.2	NP_001019765.1	1	3	4	2.193440	Q5VUE5	CA053_HUMAN		2	357	+			A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	1	1	hg19	c.354T>C	CCDS44290.1	1	.	.	.	.	.	.	.	.	.	.	T	8.075	0.771042	0.16051	.	.	ENSG00000203724	ENST00000436652	.	.	.	5.73	-10.2	0.00374	5.73	-10.2	0.00374	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	-5.4769	1.0786	0.01638	0.193:0.3039:0.198:0.305	.	.	.	.	R	55	.	.	C	+	1	0	0	C1orf53	196141638	196141638	0.023000	0.18921	0.698000	0.30274	0.812000	0.45895	-1.303000	0.02743	-1.811000	0.01229	0.533000	0.62120	TGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_001024594			153	148		430	420	1		1	1		0	0	132	0		1	9.996884e-01	0	15	0	21	0	153	430
NEK7	140609	broad.mit.edu	37	1	198201767	198201767	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000538004.1_Splice_Site_p.Q19H|NEK7_ENST00000417895.1_3'UTR	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	19					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)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363																																						ENST00000367385.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(55-57)caG>caT		NIMA-related kinase 7							89.0	85.0	86.0					1																	198201767		2203	4300	6503	SO:0001630	splice_region_variant	140609	0	0					g.chr1:198201767G>T	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.57+1G>T	chr1.hg19:g.198201767G>T		1					NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000538004.1_Splice_Site_p.Q19H	p.Q19H	NM_133494.2	NP_598001.1	1	3	4	2.193440	Q8TDX7	NEK7_HUMAN		2	399	+			A6NGT8	Splice_Site	SNP	ENST00000367385.4	1	0	hg19	c.57G>T	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760669	0.69763	.	.	ENSG00000151414	ENST00000367385;ENST00000442588;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.54866	1.08;1.08;0.7;0.55;3.15	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.53593	0.73	T	0.52830	-0.8523	10	0.52906	T	0.07	.	15.5342	0.75990	0.0:0.0:1.0:0.0	.	19	Q8TDX7	NEK7_HUMAN	H	19	ENSP00000356355:Q19H;ENSP00000444621:Q19H;ENSP00000356353:Q19H;ENSP00000439095:Q19H;ENSP00000375835:Q19H	ENSP00000356353:Q19H	Q	+	3	2	2	NEK7	196468390	196468390	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.677000	0.68142	2.753000	0.94483	0.555000	0.69702	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-5.807974	1	0.170000	NM_133494	Missense_Mutation		70	69		182	179	1		1	1		0	0	50	0		1	1	0	3	0	73	0	70	182
PTPRC	5788	broad.mit.edu	37	1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000367376.2	+	14	1810	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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						ATATTCAACAGACTACACTTT	0.328																																						ENST00000367376.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(1639-1641)Gac>Aac		protein tyrosine phosphatase, receptor type, C							52.0	50.0	51.0					1																	198687417		2202	4300	6502	SO:0001583	missense	5788	0	0					g.chr1:198687417G>A	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.1639G>A	chr1.hg19:g.198687417G>A	ENSP00000356346:p.Asp547Asn	1					PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N	p.D547N	NM_002838.4	NP_002829.3	1	3	4	2.193440	P08575	PTPRC_HUMAN		14	1810	+			A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	1	1	hg19	c.1639G>A		1	.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993669	0.02145	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56103	0.48	4.52	-9.04	0.00734	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23492	0.0568	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.14023	0.005;0.01;0.002;0.002;0.002	T	0.18085	-1.0348	10	0.21540	T	0.41	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	549;483;499;499;433;547;481;386	ENSP00000193532:D499N	ENSP00000306782:D386N	D	+	1	0	0	PTPRC	196954040	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				25	25		95	94	1		1	0		0	0	31	0		9.999999e-01	1	0	0	0	176	0	25	95
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TCCTGGTGTCGCTCTTCACGT	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1	1.000000	0.660000	9.800000e-01	7.800000e-01	0.900000	0.885421	0.900000	0.990000																										0				13						c.(199-201)tcG>tcA		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)						29.0	30.0	29.0					1																	19992447		2203	4297	6500	SO:0001819	synonymous_variant	3362	0	0					g.chr1:19992447G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.201G>A	chr1.hg19:g.19992447G>A		1						p.S67S	NM_000871.1	NP_000862.1	0	1	1	1.828421	P50406	5HT6R_HUMAN		1	668	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	1	1	hg19	c.201G>A	CCDS197.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_000871			23	23		194	190	1		1			0	0	43	0		9.999995e-01	0	0	0	0	0	0	23	194
TMCO4	255104	broad.mit.edu	37	1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	rs144713907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	562						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16479	0.001		0.0	False		,,,				2504	0.0					ENST00000294543.6	1.000000	0.940000	1	9.700000e-01	0.980000	0.988845	0.980000	0.990000																										0				19						c.(1684-1686)aCc>aTc		transmembrane and coiled-coil domains 4							60.0	65.0	63.0					1																	20009753		2203	4300	6503	SO:0001583	missense	255104	1	121412	32				g.chr1:20009753G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1685C>T	chr1.hg19:g.20009753G>A	ENSP00000294543:p.Thr562Ile	1					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000375127.1_Intron	p.T562I	NM_181719.4	NP_859070.3	0	1	1	1.828421	Q5TGY1	TMCO4_HUMAN		16	1926	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	1	1	hg19	c.1685C>T	CCDS198.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.15	1.553797	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	-0.938	0.10412	4.61	-0.938	0.10412	.	1.360170	0.05067	N	0.480974	T	0.17662	0.0424	L	0.27053	0.805	0.09310	N	1	P;B	0.36438	0.553;0.002	B;B	0.33042	0.157;0.005	T	0.12041	-1.0563	10	0.40728	T	0.16	-13.7287	1.5066	0.02487	0.1655:0.1313:0.3009:0.4022	.	562;522	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	I	562;522	ENSP00000294543:T562I;ENSP00000364264:T522I	ENSP00000294543:T562I	T	-	2	0	0	TMCO4	19882340	19882340	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.220000	0.09215	-0.415000	0.07484	-0.140000	0.14226	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_181719			101	101		354	353	1		1	1		0	0	91	0		1	9.999513e-01	0	17	0	36	0	101	354
PTPRC	5788	broad.mit.edu	37	1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000367376.2	+	28	3212	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1014	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)			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						GAACCAAGCAAATACATCAAT	0.348																																						ENST00000367376.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(3040-3042)aAa>aCa		protein tyrosine phosphatase, receptor type, C							95.0	89.0	91.0					1																	198718653		2203	4300	6503	SO:0001583	missense	5788	0	0					g.chr1:198718653A>C	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.3041A>C	chr1.hg19:g.198718653A>C	ENSP00000356346:p.Lys1014Thr	1					PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T	p.K1014T	NM_002838.4	NP_002829.3	1	3	4	2.193440	P08575	PTPRC_HUMAN		28	3212	+			A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	1	1	hg19	c.3041A>C		1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588355	0.66105	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13307	2.6	5.82	2.25	0.28309	5.82	2.25	0.28309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125027	0.35936	N	0.002887	T	0.17874	0.0429	N	0.17901	0.54	0.44295	D	0.997169	D;D;D	0.57899	0.981;0.981;0.961	P;P;P	0.62740	0.906;0.906;0.875	T	0.01212	-1.1417	10	0.62326	D	0.03	.	9.6267	0.39754	0.7274:0.0:0.2726:0.0	.	855;966;1014	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	T	1016;966;1014;853	ENSP00000193532:K966T	ENSP00000306782:K853T	K	+	2	0	0	PTPRC	196985276	196985276	0.958000	0.32768	0.969000	0.41365	0.763000	0.43281	0.284000	0.18864	0.131000	0.18576	0.528000	0.53228	AAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				51	51		203	200	1		1	0		0	0	41	0		1	1	0	0	0	209	0	51	203
ZNF281	23528	broad.mit.edu	37	1	200376162	200376162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.3	-	2	2796	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I|ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I	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	891					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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTAACTCTGGCTGGTGGGTGT	0.418																																						ENST00000294740.3	1.000000	0.260000	1	3.400000e-01	0.450000	0.554065	0.450000	0.410000																										0				27						c.(2671-2673)aGc>aTc		zinc finger protein 281							112.0	118.0	116.0					1																	200376162		2203	4300	6503	SO:0001583	missense	23528	0	0					g.chr1:200376162C>A	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.2672G>T	chr1.hg19:g.200376162C>A	ENSP00000294740:p.Ser891Ile	1					ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	p.S891I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	1	3	4	2.193440	Q9Y2X9	ZN281_HUMAN		2	2796	-			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	1	1	hg19	c.2672G>T	CCDS1402.1	0	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369378	0.61624	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.15139	2.45;2.45;2.47	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.05818	-1.0862	10	0.87932	D	0	-18.5336	19.5851	0.95487	0.0:1.0:0.0:0.0	.	855;891	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	891;891;855;596	ENSP00000294740:S891I;ENSP00000356322:S891I;ENSP00000356321:S855I	ENSP00000294740:S891I	S	-	2	0	0	ZNF281	198642785	198642785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.618000	0.88619	0.563000	0.77884	AGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	0	0	1		19	5	2	1		1	1	106		106	104	1	2.060000	-3.399065	1	0.170000	NM_012482			19	19		588	573	0		1	1		1	0	106	0		5.320690e-01	2.192018e-01	0	5	0	91	0	19	588
ZNF281	23528	broad.mit.edu	37	1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D|ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D	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	504					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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383																																						ENST00000294740.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1510-1512)gGc>gAc		zinc finger protein 281							85.0	81.0	82.0					1																	200377323		2203	4300	6503	SO:0001583	missense	23528	0	0					g.chr1:200377323C>T	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.1511G>A	chr1.hg19:g.200377323C>T	ENSP00000294740:p.Gly504Asp	1					ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	p.G504D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	1	3	4	2.193440	Q9Y2X9	ZN281_HUMAN		2	1635	-			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	1	1	hg19	c.1511G>A	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556407	0.00910	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.26518	1.73;1.73;1.73	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.173579	0.49305	D	0.000144	T	0.11793	0.0287	N	0.05383	-0.06	0.40018	D	0.975371	B;B	0.25272	0.122;0.122	B;B	0.23852	0.049;0.049	T	0.09037	-1.0693	10	0.02654	T	1	-8.8136	12.9562	0.58430	0.0:0.9262:0.0:0.0738	.	468;504	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	504;504;468;209	ENSP00000294740:G504D;ENSP00000356322:G504D;ENSP00000356321:G468D	ENSP00000294740:G504D	G	-	2	0	0	ZNF281	198643946	198643946	1.000000	0.71417	0.975000	0.42487	0.945000	0.59286	4.300000	0.59079	2.641000	0.89580	0.650000	0.86243	GGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	0	0	1		21	4	2	1		1	1	75		75	73	1	2.060000	-3.429566	1	0.170000	NM_012482			90	90		395	390	1		1	1		1	0	75	0		1	9.868933e-01	0	4	0	46	0	90	395
KIF14	9928	broad.mit.edu	37	1	200524583	200524583	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						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)			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						CTTTGGTAACCTATAGAGAAT	0.269																																						ENST00000367350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.e28-1		kinesin family member 14							47.0	50.0	49.0					1																	200524583		2198	4281	6479	SO:0001630	splice_region_variant	9928	0	0					g.chr1:200524583C>T	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.4354-1G>A	chr1.hg19:g.200524583C>T		1							NM_014875.2	NP_055690.1	1	3	4	2.193440	Q15058	KIF14_HUMAN		28	4792	-			Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	1	1	hg19		CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222434	0.58668	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5612	0.76249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KIF14	198791206	198791206	0.998000	0.40836	0.347000	0.25668	0.799000	0.45148	4.317000	0.59184	2.682000	0.91365	0.655000	0.94253	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-4.836172	1	0.170000	NM_014875	Intron		50	47		136	133	0		1			0	0	27	0		1	0	0	0	0	0	0	50	136
KIF14	9928	broad.mit.edu	37	1	200544719	200544719	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1189	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)			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						TTGTCTTTACCTCCTTCTAGA	0.368																																						ENST00000367350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3565-3567)aGg>aTg		kinesin family member 14							88.0	82.0	84.0					1																	200544719		2203	4300	6503	SO:0001630	splice_region_variant	9928	0	0					g.chr1:200544719C>A	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.3566+1G>T	chr1.hg19:g.200544719C>A		1						p.R1189M	NM_014875.2	NP_055690.1	1	3	4	2.193440	Q15058	KIF14_HUMAN		22	4004	-			Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	1	0	hg19	c.3566G>T	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874539	0.72180	.	.	ENSG00000118193	ENST00000367350	T	0.18502	2.21	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.71581	2.175	0.52099	D	0.999943	D	0.89917	1.0	D	0.71184	0.972	T	0.08106	-1.0738	9	.	.	.	.	11.4977	0.50419	0.0:0.9164:0.0:0.0836	.	1189	Q15058	KIF14_HUMAN	M	1189	ENSP00000356319:R1189M	.	R	-	2	0	0	KIF14	198811342	198811342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.194000	0.51005	2.267000	0.75376	0.563000	0.77884	AGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.426467	1	0.170000	NM_014875	Missense_Mutation		52	49		236	229	0		1	0		0	0	63	0		1	8.896610e-02	0	0	0	3	0	52	236
DDX59	83479	broad.mit.edu	37	1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000331314.6	-	4	1257	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000447706.2_Missense_Mutation_p.K348N	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308																																						ENST00000331314.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1042-1044)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							122.0	133.0	129.0					1																	200628173		2203	4300	6503	SO:0001583	missense	83479	0	0					g.chr1:200628173C>A	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.1044G>T	chr1.hg19:g.200628173C>A	ENSP00000330460:p.Lys348Asn	1					DDX59_ENST00000447706.2_Missense_Mutation_p.K348N|DDX59_ENST00000367348.3_Missense_Mutation_p.K348N	p.K348N	NM_001031725.4	NP_001026895.2	1	3	4	2.193440	Q5T1V6	DDX59_HUMAN		4	1257	-			Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	1	1	hg19	c.1044G>T	CCDS30964.1	1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854626	0.32791	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.47528	0.84;0.84;0.84	5.74	-0.954	0.10359	5.74	-0.954	0.10359	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091215	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.48395	D	0.999647	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.859	T	0.53012	-0.8498	10	0.54805	T	0.06	-22.3311	10.9624	0.47393	0.0:0.4521:0.0:0.5479	.	348;348	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	N	348	ENSP00000394367:K348N;ENSP00000356317:K348N;ENSP00000330460:K348N	ENSP00000330460:K348N	K	-	3	2	2	DDX59	198894796	198894796	1.000000	0.71417	0.222000	0.23844	0.272000	0.26649	0.765000	0.26546	-0.171000	0.10797	-0.781000	0.03364	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_001031725.4			88	85		487	480	1		1	1		0	0	113	0		1	9.979593e-01	0	10	0	43	0	88	487
DDX59	83479	broad.mit.edu	37	1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	rs143810968	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000331314.6	-	2	1015	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000447706.2_Missense_Mutation_p.E268K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	268	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368																																						ENST00000331314.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(802-804)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	47.0	48.0	48.0		802	3.0	0.7	1	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DDX59	NM_001031725.4	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	268/620	200635067	4,13002	2203	4300	6503	SO:0001583	missense	83479	26	121412	44				g.chr1:200635067C>T	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.802G>A	chr1.hg19:g.200635067C>T	ENSP00000330460:p.Glu268Lys	1					DDX59_ENST00000447706.2_Missense_Mutation_p.E268K|DDX59_ENST00000367348.3_Missense_Mutation_p.E268K	p.E268K	NM_001031725.4	NP_001026895.2	1	3	4	2.193440	Q5T1V6	DDX59_HUMAN		2	1015	-			Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	1	1	hg19	c.802G>A	CCDS30964.1	1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692739	0.30052	2.27E-4	3.49E-4	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14766	2.48;2.48;2.48	5.2	2.96	0.34315	5.2	2.96	0.34315	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.434790	0.26418	N	0.024483	T	0.05547	0.0146	N	0.05487	-0.04	0.26589	N	0.973232	B;B	0.13145	0.002;0.007	B;B	0.12156	0.004;0.007	T	0.40346	-0.9568	10	0.08599	T	0.76	-24.0557	8.2557	0.31756	0.0:0.6967:0.1491:0.1542	.	268;268	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	268	ENSP00000394367:E268K;ENSP00000356317:E268K;ENSP00000330460:E268K	ENSP00000330460:E268K	E	-	1	0	0	DDX59	198901690	198901690	0.577000	0.26708	0.700000	0.30305	0.181000	0.23173	1.146000	0.31589	1.194000	0.43101	0.558000	0.71614	GAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-6.152387	1	0.170000	NM_001031725.4			93	93		254	249	0		1	1		0	0	44	0		1	9.999999e-01	0	25	0	44	0	93	254
TMCO4	255104	broad.mit.edu	37	1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	397						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517																																						ENST00000294543.6	1.000000	0.900000	1	9.500000e-01	0.980000	0.978887	0.980000	0.990000																										0				19						c.(1189-1191)Cct>Act		transmembrane and coiled-coil domains 4							93.0	88.0	90.0					1																	20063940		2203	4300	6503	SO:0001583	missense	255104	0	0					g.chr1:20063940G>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1189C>A	chr1.hg19:g.20063940G>T	ENSP00000294543:p.Pro397Thr	1					TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR	p.P397T	NM_181719.4	NP_859070.3	0	1	1	1.828421	Q5TGY1	TMCO4_HUMAN		13	1430	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	1	1	hg19	c.1189C>A	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.61040	0.14;0.14;0.14	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-10.5998	16.9883	0.86346	0.0:0.0:1.0:0.0	.	397	Q5TGY1	TMCO4_HUMAN	T	397;397;357	ENSP00000294543:P397T;ENSP00000364269:P397T;ENSP00000364264:P357T	ENSP00000294543:P397T	P	-	1	0	0	TMCO4	19936527	19936527	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.868000	0.92320	2.689000	0.91719	0.655000	0.94253	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_181719			70	70		325	321	1		1	1		0	0	73	0		1	9.999981e-01	0	38	0	53	0	70	325
DDX59	83479	broad.mit.edu	37	1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000331314.6	-	2	344	c.131C>A	c.(130-132)gCt>gAt	p.A44D	RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000447706.2_Missense_Mutation_p.A44D	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	44						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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483																																						ENST00000331314.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(130-132)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							172.0	156.0	162.0					1																	200635738		2203	4300	6503	SO:0001583	missense	83479	0	0					g.chr1:200635738G>T	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.131C>A	chr1.hg19:g.200635738G>T	ENSP00000330460:p.Ala44Asp	1					DDX59_ENST00000447706.2_Missense_Mutation_p.A44D|DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|RP11-92G12.3_ENST00000568695.1_lincRNA	p.A44D	NM_001031725.4	NP_001026895.2	1	3	4	2.193440	Q5T1V6	DDX59_HUMAN		2	344	-			Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	1	1	hg19	c.131C>A	CCDS30964.1	1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086218	0.07097	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.49;1.49;1.86;0.89	4.95	3.05	0.35203	4.95	3.05	0.35203	.	0.565466	0.16340	N	0.218736	T	0.27629	0.0679	L	0.43152	1.355	0.09310	N	1	P;B	0.35077	0.483;0.22	B;B	0.27887	0.084;0.058	T	0.10989	-1.0606	10	0.21540	T	0.41	-0.1895	6.7808	0.23643	0.0857:0.0:0.5331:0.3812	.	44;44	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	44	ENSP00000394367:A44D;ENSP00000356317:A44D;ENSP00000330460:A44D;ENSP00000391312:A44D	ENSP00000330460:A44D	A	-	2	0	0	DDX59	198902361	198902361	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.328000	0.19681	0.494000	0.27859	0.555000	0.69702	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_001031725.4			107	105		506	494	1		1	1		0	0	99	0		1	9.999321e-01	0	7	0	60	0	107	506
GPR25	2848	broad.mit.edu	37	1	200842741	200842741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842741C>T	ENST00000304244.2	+	1	659	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCAGTGCGGCGAGGAGCCCT	0.711																																						ENST00000304244.2	1.000000	0.510000	1	7.300000e-01	0.990000	0.905077	0.990000	1.000000																										0				5						c.(574-576)ggC>ggT		G protein-coupled receptor 25							8.0	9.0	8.0					1																	200842741		2031	4016	6047	SO:0001819	synonymous_variant	2848	0	0					g.chr1:200842741C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.576C>T	chr1.hg19:g.200842741C>T		1						p.G192G	NM_005298.2	NP_005289.2	1	3	4	2.193440	O00155	GPR25_HUMAN		1	659	+			A0AVJ5	Silent	SNP	ENST00000304244.2	0	1	hg19	c.576C>T	CCDS1405.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	0	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-15.082320	1	0.170000	NM_005298			10	10		131	129	0		1			0	0	13	0		9.970034e-01	0	0	0	0	0	0	10	131
KIF21B	23046	broad.mit.edu	37	1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000422435.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000332129.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	947					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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637																																						ENST00000422435.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2839-2841)aGg>aTg		kinesin family member 21B							18.0	19.0	18.0					1																	200959456		2203	4300	6503	SO:0001583	missense	23046	0	0					g.chr1:200959456C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2840G>T	chr1.hg19:g.200959456C>A	ENSP00000411831:p.Arg947Met	1					KIF21B_ENST00000332129.2_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M	p.R947M	NM_001252100.1	NP_001239029.1	1	3	4	2.193440	O75037	KI21B_HUMAN		20	3156	-			B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	1	1	hg19	c.2840G>T	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.053658	0.93793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89746	-2.22;-2.52;-2.56;-2.25	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.59767	0.975;0.986;0.975;0.985	P;P;P;P	0.55161	0.466;0.621;0.594;0.77	D	0.94253	0.7495	10	0.87932	D	0	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	947;947;947;947	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	947	ENSP00000328494:R947M;ENSP00000353724:R947M;ENSP00000433808:R947M;ENSP00000411831:R947M	ENSP00000328494:R947M	R	-	2	0	0	KIF21B	199226079	199226079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	2.423000	0.82170	0.655000	0.94253	AGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-20.000000	1	0.170000	XM_371332			26	26		83	82	1		1	1		0	0	25	0		1	8.965460e-01	0	6	0	9	0	26	83
KIF21B	23046	broad.mit.edu	37	1	200969089	200969089	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000422435.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000332129.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	563					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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622																																						ENST00000422435.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1687-1689)ccC>ccT		kinesin family member 21B							130.0	113.0	119.0					1																	200969089		2203	4300	6503	SO:0001819	synonymous_variant	23046	0	0					g.chr1:200969089G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1689C>T	chr1.hg19:g.200969089G>A		1					KIF21B_ENST00000332129.2_Silent_p.P563P|KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P	p.P563P	NM_001252100.1	NP_001239029.1	1	3	4	2.193440	O75037	KI21B_HUMAN		12	2005	-			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	1	1	hg19	c.1689C>T	CCDS58056.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-5.016001	1	0.170000	XM_371332			113	102		329	322	1		1	1		0	0	83	0		1	9.974675e-01	0	7	0	22	0	113	329
KIF21B	23046	broad.mit.edu	37	1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000422435.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000332129.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	243	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622																																						ENST00000422435.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(727-729)gAc>gGc		kinesin family member 21B							55.0	53.0	54.0					1																	200974440		2203	4300	6503	SO:0001583	missense	23046	0	0					g.chr1:200974440T>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.728A>G	chr1.hg19:g.200974440T>C	ENSP00000411831:p.Asp243Gly	1					KIF21B_ENST00000332129.2_Missense_Mutation_p.D243G|KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G	p.D243G	NM_001252100.1	NP_001239029.1	1	3	4	2.193440	O75037	KI21B_HUMAN		5	1044	-			B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	1	1	hg19	c.728A>G	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664022	0.47572	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	1.55	0.23275	5.17	1.55	0.23275	Kinesin, motor domain (4);	0.390814	0.28977	N	0.013533	T	0.54951	0.1890	N	0.14661	0.345	0.52501	D	0.99995	B;B;B;B	0.23185	0.081;0.081;0.0;0.066	B;B;B;B	0.24269	0.052;0.052;0.001;0.031	T	0.45760	-0.9239	10	0.72032	D	0.01	.	8.1806	0.31309	0.0:0.3035:0.0:0.6965	.	243;243;243;243	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	243	ENSP00000328494:D243G;ENSP00000353724:D243G;ENSP00000433808:D243G;ENSP00000411831:D243G	ENSP00000328494:D243G	D	-	2	0	0	KIF21B	199241063	199241063	1.000000	0.71417	0.956000	0.39512	0.911000	0.54048	3.857000	0.55972	0.014000	0.14944	0.533000	0.62120	GAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1		2	2	2	0		0	0	67		67	63	1	2.060000	-20.000000	1	0.170000	XM_371332			68	67		350	347	1		1	1		0	0	67	0		1	9.866919e-01	0	13	0	24	0	68	350
KIF21B	23046	broad.mit.edu	37	1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000422435.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000332129.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562																																						ENST00000422435.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(175-177)tgG>tgT		kinesin family member 21B							135.0	125.0	128.0					1																	200978481		2203	4300	6503	SO:0001583	missense	23046	0	0					g.chr1:200978481C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.177G>T	chr1.hg19:g.200978481C>A	ENSP00000411831:p.Trp59Cys	1					KIF21B_ENST00000332129.2_Missense_Mutation_p.W59C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	p.W59C	NM_001252100.1	NP_001239029.1	1	3	4	2.193440	O75037	KI21B_HUMAN		2	493	-			B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	1	1	hg19	c.177G>T	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.53	4.53	0.55603	4.53	4.53	0.55603	Kinesin, motor domain (4);	0.302314	0.33534	N	0.004803	T	0.59155	0.2173	N	0.01576	-0.805	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.983;0.992	P;P;P;P	0.60173	0.87;0.87;0.749;0.794	T	0.71656	-0.4527	10	0.56958	D	0.05	.	13.2344	0.59961	0.0:0.8405:0.1595:0.0	.	59;59;59;59	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	59	ENSP00000328494:W59C;ENSP00000353724:W59C;ENSP00000433808:W59C;ENSP00000411831:W59C	ENSP00000328494:W59C	W	-	3	0	0	KIF21B	199245104	199245104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.063000	0.49978	2.341000	0.79615	0.650000	0.86243	TGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	XM_371332			79	76		227	224	1		1	1		0	0	58	0		1	9.957866e-01	0	14	0	13	0	79	227
CACNA1S	779	broad.mit.edu	37	1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A	rs550371466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1702					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)			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)	CCAAGGGCTCGTCCTCTGGTA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.001					ENST00000362061.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999489	0.990000	1.000000																										0				102						c.(5104-5106)Cga>Tga		calcium channel, voltage-dependent, L type, alpha 1S subunit	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)						81.0	68.0	72.0					1																	201010662		2203	4300	6503	SO:0001587	stop_gained	779	11	121412	39				g.chr1:201010662G>A	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.5104C>T	chr1.hg19:g.201010662G>A	ENSP00000355192:p.Arg1702*	1					RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*	p.R1702*	NM_000069.2	NP_000060.2	1	3	4	2.193440	Q13698	CAC1S_HUMAN		41	5330	-			A4IF51|B1ALM2|Q12896|Q13934	Nonsense_Mutation	SNP	ENST00000362061.3	0	1	hg19	c.5104C>T	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	46	12.097687	0.99636	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.51	3.6	0.41247	4.51	3.6	0.41247	.	3.051100	0.01927	U	0.040939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8773	0.46919	0.0:0.8087:0.1913:0.0	.	.	.	.	X	1702;1683	.	ENSP00000355192:R1702X	R	-	1	2	2	CACNA1S	199277285	199277285	1.000000	0.71417	0.997000	0.53966	0.028000	0.11728	0.826000	0.27407	1.278000	0.44430	-0.375000	0.07067	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_000069			21	21		141	139	1		1			0	0	26	0		9.999983e-01	0	0	0	0	0	0	21	141
CACNA1S	779	broad.mit.edu	37	1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	986					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)			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)	CTCGCGGTGACGCAGCTCTAT	0.602													c|||	3	0.000599042	0.0023	0.0	5008	,	,		21263	0.0		0.0	False		,,,				2504	0.0					ENST00000362061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(2956-2958)cGt>cAt		calcium channel, voltage-dependent, L type, alpha 1S subunit	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)	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	149.0	100.0	117.0		2957	0.6	0.3	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	986/1874	201031168	4,13002	2203	4300	6503	SO:0001583	missense	779	16	121412	43				g.chr1:201031168C>T	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.2957G>A	chr1.hg19:g.201031168C>T	ENSP00000355192:p.Arg986His	1					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	p.R986H	NM_000069.2	NP_000060.2	1	3	4	2.193440	Q13698	CAC1S_HUMAN		24	3183	-			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	1	1	hg19	c.2957G>A	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336023	0.11013	6.81E-4	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	5.17	0.617	0.17619	5.17	0.617	0.17619	Ion transport (1);	0.602245	0.18535	N	0.138397	D	0.94624	0.8267	L	0.37897	1.145	0.09310	N	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.89262	0.3598	10	0.49607	T	0.09	.	6.3595	0.21420	0.0:0.4259:0.0:0.5741	.	986	Q13698	CAC1S_HUMAN	H	986	ENSP00000355192:R986H;ENSP00000356307:R986H	ENSP00000355192:R986H	R	-	2	0	0	CACNA1S	199297791	199297791	0.004000	0.15560	0.349000	0.25694	0.003000	0.03518	0.206000	0.17375	0.288000	0.22398	-0.736000	0.03550	CGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_000069			43	42		131	129	1		1			0	0	44	0		1	0	0	0	0	0	0	43	131
CACNA1S	779	broad.mit.edu	37	1	201035357	201035357	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					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)			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)	CCTCTCTCACCTTCAACCCCT	0.652																																						ENST00000362061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(2743-2745)aaG>aaT		calcium channel, voltage-dependent, L type, alpha 1S subunit	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)						66.0	68.0	67.0					1																	201035357		2203	4300	6503	SO:0001630	splice_region_variant	779	0	0					g.chr1:201035357C>A	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.2745+1G>T	chr1.hg19:g.201035357C>A		1					CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	p.K915N	NM_000069.2	NP_000060.2	1	3	4	2.193440	Q13698	CAC1S_HUMAN		21	2971	-			A4IF51|B1ALM2|Q12896|Q13934	Splice_Site	SNP	ENST00000362061.3	1	0	hg19	c.2745G>T	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985117	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98732	-5.1;-5.1	3.91	3.91	0.45181	3.91	3.91	0.45181	Ion transport (1);	0.102561	0.64402	D	0.000004	D	0.99339	0.9768	H	0.97564	4.03	0.54753	D	0.999986	P	0.44877	0.845	P	0.56216	0.794	D	0.98563	1.0642	9	.	.	.	.	16.249	0.82472	0.0:1.0:0.0:0.0	.	915	Q13698	CAC1S_HUMAN	N	915	ENSP00000355192:K915N;ENSP00000356307:K915N	.	K	-	3	2	2	CACNA1S	199301980	199301980	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.979000	0.70508	1.884000	0.54569	0.455000	0.32223	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	0		2	2	2	0		0	0	98		98	95	1	2.060000	-20.000000	1	0.170000	NM_000069	Missense_Mutation		78	78		397	392	1		1			0	0	98	0		1	0	0	0	0	0	0	78	397
CACNA1S	779	broad.mit.edu	37	1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	899					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)			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)	AGCACCCTCAGCACCCTCAGG	0.652																																						ENST00000362061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(2695-2697)Ctg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	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)						72.0	73.0	73.0					1																	201035407		2203	4300	6503	SO:0001583	missense	779	0	0					g.chr1:201035407G>T	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.2695C>A	chr1.hg19:g.201035407G>T	ENSP00000355192:p.Leu899Met	1					CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	p.L899M	NM_000069.2	NP_000060.2	1	3	4	2.193440	Q13698	CAC1S_HUMAN		21	2921	-			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	1	1	hg19	c.2695C>A	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305376	0.60305	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99089	-5.41;-5.41	3.91	2.98	0.34508	3.91	2.98	0.34508	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99221	0.9729	M	0.88906	2.99	0.44976	D	0.997993	D	0.63046	0.992	D	0.74674	0.984	D	0.99572	1.0971	10	0.87932	D	0	.	11.5358	0.50636	0.0904:0.0:0.9096:0.0	.	899	Q13698	CAC1S_HUMAN	M	899	ENSP00000355192:L899M;ENSP00000356307:L899M	ENSP00000355192:L899M	L	-	1	2	2	CACNA1S	199302030	199302030	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	3.109000	0.50345	0.741000	0.32674	0.455000	0.32223	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	0		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_000069			90	90		442	436	1		1			0	0	120	0		1	0	0	0	0	0	0	90	442
CACNA1S	779	broad.mit.edu	37	1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T	rs370861322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	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)			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)	GCGAAAGATGCGGTTCCACTG	0.542																																						ENST00000362061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(1255-1257)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	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)	C	HIS/ARG	0,4406		0,0,2203	198.0	162.0	174.0		1256	4.6	1.0	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	419/1874	201052427	1,13005	2203	4300	6503	SO:0001583	missense	779	3	121412	41				g.chr1:201052427C>T	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.1256G>A	chr1.hg19:g.201052427C>T	ENSP00000355192:p.Arg419His	1					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	p.R419H	NM_000069.2	NP_000060.2	1	3	4	2.193440	Q13698	CAC1S_HUMAN		10	1482	-			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	1	1	hg19	c.1256G>A	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000816	0.74818	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96913	-4.17;-4.08	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.97907	0.9312	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.98438	1.0585	10	0.54805	T	0.06	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	419	Q13698	CAC1S_HUMAN	H	419	ENSP00000355192:R419H;ENSP00000356307:R419H	ENSP00000355192:R419H	R	-	2	0	0	CACNA1S	199319050	199319050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.694000	0.84235	2.232000	0.73038	0.643000	0.83706	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-3.221934	1	0.170000	NM_000069			88	86		530	521	1		1			0	0	106	0		1	0	0	0	0	0	0	88	530
PKP1	5317	broad.mit.edu	37	1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000352845.3	+	1	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000367324.3_Missense_Mutation_p.E13K			Q13835	PKP1_HUMAN	plakophilin 1	13					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)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652																																						ENST00000352845.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(37-39)Gaa>Aaa		plakophilin 1							86.0	67.0	74.0					1																	201252867		2203	4300	6503	SO:0001583	missense	5317	0	0					g.chr1:201252867G>A	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.37G>A	chr1.hg19:g.201252867G>A	ENSP00000295597:p.Glu13Lys	1					PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000367324.3_Missense_Mutation_p.E13K	p.E13K			1	3	4	2.193440	Q13835	PKP1_HUMAN		1	37	+			O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	1	1	hg19	c.37G>A	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109651	0.94292	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.61742	0.08;0.08;0.08	5.01	5.01	0.66863	5.01	5.01	0.66863	.	3.864160	0.01113	N	0.005600	T	0.71787	0.3381	L	0.27053	0.805	0.42555	D	0.993128	D;D	0.89917	0.999;1.0	D;D	0.75484	0.982;0.986	T	0.56768	-0.7924	10	0.66056	D	0.02	-10.1207	16.4971	0.84248	0.0:0.0:1.0:0.0	.	13;13	Q13835-2;Q13835	.;PKP1_HUMAN	K	13	ENSP00000356293:E13K;ENSP00000263946:E13K;ENSP00000295597:E13K	ENSP00000263946:E13K	E	+	1	0	0	PKP1	199519490	199519490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.057000	0.71119	2.324000	0.78689	0.655000	0.94253	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_000299			53	52		150	148	1		1			0	0	31	0		1	0	0	0	0	0	0	53	150
PKP1	5317	broad.mit.edu	37	1	201286865	201286865	+	Missense_Mutation	SNP	C	C	A	rs12562244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201286865C>A	ENST00000352845.3	+	5	1012	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Missense_Mutation_p.L338M|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M			Q13835	PKP1_HUMAN	plakophilin 1	338					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)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGTCAGCCTCCTGAGGAGAAC	0.652																																						ENST00000352845.3	1.000000	0.240000	1	3.500000e-01	0.520000	0.605106	0.520000	0.450000																										0				22						c.(1012-1014)Ctg>Atg		plakophilin 1							32.0	34.0	33.0					1																	201286865		2203	4300	6503	SO:0001583	missense	5317	0	0					g.chr1:201286865C>A	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.1012C>A	chr1.hg19:g.201286865C>A	ENSP00000295597:p.Leu338Met	1					PKP1_ENST00000263946.3_Missense_Mutation_p.L338M|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR	p.L338M			1	3	4	2.193440	Q13835	PKP1_HUMAN		5	1012	+			O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	0	1	hg19	c.1012C>A	CCDS30966.1	0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330338	0.81690	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.64260	-0.09;-0.09;-0.09	5.24	5.24	0.73138	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.072941	0.56097	D	0.000023	T	0.80265	0.4591	M	0.85777	2.775	0.80722	D	1	D;D	0.58970	0.975;0.984	P;P	0.60415	0.874;0.867	D	0.83888	0.0283	10	0.87932	D	0	-6.6512	18.8834	0.92365	0.0:1.0:0.0:0.0	rs12562244	338;338	Q13835-2;Q13835	.;PKP1_HUMAN	M	338	ENSP00000356293:L338M;ENSP00000263946:L338M;ENSP00000295597:L338M	ENSP00000263946:L338M	L	+	1	2	2	PKP1	199553488	199553488	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.285000	0.58989	2.466000	0.83321	0.551000	0.68910	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-10.359260	1	0.170000	NM_000299			9	8		251	250	0		1	0		0	0	40	0		9.942467e-01	1.596378e-03	0	0	0	2	0	9	251
PKP1	5317	broad.mit.edu	37	1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A	rs376870836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000352845.3	+	8	1334	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_ENST00000263946.3_Missense_Mutation_p.R445H|PKP1_ENST00000367324.3_Missense_Mutation_p.R424H			Q13835	PKP1_HUMAN	plakophilin 1	445					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)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607																																						ENST00000352845.3	1.000000	0.770000	1	9.800000e-01	0.990000	0.979405	0.990000	1.000000																										0				22						c.(1333-1335)cGt>cAt		plakophilin 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	62.0	66.0		1334,1271	4.8	1.0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKP1	NM_000299.3,NM_001005337.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/748,424/727	201289433	1,13005	2203	4300	6503	SO:0001583	missense	5317	5	121412	36				g.chr1:201289433G>A	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.1334G>A	chr1.hg19:g.201289433G>A	ENSP00000295597:p.Arg445His	1					PKP1_ENST00000263946.3_Missense_Mutation_p.R445H|PKP1_ENST00000367324.3_Missense_Mutation_p.R424H	p.R445H			1	3	4	2.193440	Q13835	PKP1_HUMAN		8	1334	+			O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	1	1	hg19	c.1334G>A	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.202281	0.94997	0.0	1.16E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.81247	-1.47;-1.47;-1.47	4.81	4.81	0.61882	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87900	2.915	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	0.92805	0.6259	10	0.87932	D	0	-19.6126	18.2321	0.89937	0.0:0.0:1.0:0.0	.	32;424;445	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	424;445;445	ENSP00000356293:R424H;ENSP00000263946:R445H;ENSP00000295597:R445H	ENSP00000263946:R445H	R	+	2	0	0	PKP1	199556056	199556056	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	8.915000	0.92740	2.375000	0.81037	0.591000	0.81541	CGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_000299			20	20		204	196	0		1	0		0	0	44	0		9.999947e-01	0	0	0	0	1	0	20	204
TNNT2	7139	broad.mit.edu	37	1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T	rs397516466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	149			R -> K.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642																																						ENST00000509001.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				20						c.(415-417)cGc>cAc		troponin T type 2 (cardiac)							46.0	40.0	42.0					1																	201333469		2203	4300	6503	SO:0001583	missense	7139	0	0					g.chr1:201333469C>T	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.416G>A	chr1.hg19:g.201333469C>T	ENSP00000422031:p.Arg139His	1					TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H	p.R139H	NM_001276347.1	NP_001263276.1	1	3	4	2.193440	P45379	TNNT2_HUMAN		10	702	-			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	1	1	hg19	c.416G>A	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318568	0.81469	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.28	4.28	0.50868	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.90977	3.165	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	0.83275	0.986;0.992;0.992;0.996;0.993;0.992	D	0.97750	1.0214	10	0.87932	D	0	-11.211	15.2601	0.73615	0.0:1.0:0.0:0.0	.	134;151;148;149;139;149	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	H	139;139;151;141;144;139;139;134;135;80;109;139;134;149	ENSP00000356291:R139H;ENSP00000356287:R139H;ENSP00000387874:R151H;ENSP00000404134:R141H;ENSP00000236918:R144H;ENSP00000356286:R139H;ENSP00000356284:R139H;ENSP00000353535:R134H;ENSP00000356289:R109H;ENSP00000422031:R139H;ENSP00000414036:R134H;ENSP00000402238:R149H	ENSP00000236918:R144H	R	-	2	0	0	TNNT2	199600092	199600092	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.834000	0.69361	1.926000	0.55796	0.491000	0.48974	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_000364			24	24		133	132	1		1	0		0	0	25	0		9.999998e-01	2.555031e-02	0	1	0	1	0	24	133
TNNT2	7139	broad.mit.edu	37	1	201337290	201337290	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*|TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597																																						ENST00000509001.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(133-135)Gaa>Taa		troponin T type 2 (cardiac)							104.0	78.0	87.0					1																	201337290		2203	4300	6503	SO:0001630	splice_region_variant	7139	0	0					g.chr1:201337290C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.133+1G>T	chr1.hg19:g.201337290C>A		1					TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*	p.E45*	NM_001276347.1	NP_001263276.1	1	3	4	2.193440	P45379	TNNT2_HUMAN		5	419	-			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Splice_Site	SNP	ENST00000509001.1	0	1	hg19	c.133G>T	CCDS30969.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919408|3.919408	0.73098|0.73098	.|.	.|.	ENSG00000118194|ENSG00000118194	ENST00000357848;ENST00000367320;ENST00000412633|ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165	D;D|.	0.99727|.	-6.55;-6.55|.	4.45|4.45	4.45|4.45	0.53987|0.53987	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.305164	.|0.25219	.|N	.|0.032250	T|.	0.71169|.	0.3308|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.35656|.	0.514|.	B|.	0.41332|.	0.354|.	T|.	0.74780|.	-0.3549|.	6|.	.|.	.|.	.|.	-4.8104|-4.8104	16.1679|16.1679	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55|.	P45379-3|.	.|.	Y|X	42;55;45|45;45;57;47;50;45;45;40;45;40;55;50	ENSP00000356289:D55Y;ENSP00000408731:D45Y|.	.|.	D|E	-|-	1|1	0|0	0|0	TNNT2|TNNT2	199603913|199603913	199603913|199603913	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.172000|0.172000	0.22775|0.22775	3.582000|3.582000	0.53921|0.53921	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GAT|GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	0	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-3.184063	1	0.170000	NM_000364	Nonsense_Mutation		79	75		374	366	0		1	0		0	0	66	0		1	1.456064e-01	0	0	0	4	0	79	374
TNNI1	7135	broad.mit.edu	37	1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	80					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602																																						ENST00000361379.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(238-240)Cga>Tga		troponin I type 1 (skeletal, slow)							324.0	287.0	299.0					1																	201382201		2203	4300	6503	SO:0001587	stop_gained	7135	0	0					g.chr1:201382201G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.238C>T	chr1.hg19:g.201382201G>A	ENSP00000354488:p.Arg80*	1					TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*|TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*	p.R80*	NM_003281.3	NP_003272.3	1	3	4	2.193440	P19237	TNNI1_HUMAN		6	330	-			A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Nonsense_Mutation	SNP	ENST00000361379.4	0	1	hg19	c.238C>T	CCDS1411.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398269	0.83120	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	.	.	.	5.11	4.09	0.47781	5.11	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2465	10.757	0.46243	0.0:0.0:0.281:0.719	.	.	.	.	X	80;80;80;80;80;80;59;80	.	ENSP00000337022:R80X	R	-	1	2	2	TNNI1	199648824	199648824	1.000000	0.71417	0.979000	0.43373	0.285000	0.27093	2.223000	0.42936	1.010000	0.39314	0.561000	0.74099	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	0	0	1		18	2	2	1		1	1	422		422	417	1	2.060000	-20.000000	1	0.170000	NM_003281			352	341		1857	1815	0		1	0		1	0	422	0		1	0	0	0	0	1	0	352	1857
NAV1	89796	broad.mit.edu	37	1	201749585	201749585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367296.4	+	4	1683	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000367302.1_Silent_p.S434S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367300.3_Silent_p.S421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	421					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468																																						ENST00000367296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1261-1263)agC>agT		neuron navigator 1							127.0	115.0	119.0					1																	201749585		2203	4300	6503	SO:0001819	synonymous_variant	89796	1	121412	28				g.chr1:201749585C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1263C>T	chr1.hg19:g.201749585C>T		1					NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000367302.1_Silent_p.S434S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367300.3_Silent_p.S421S	p.S421S	NM_020443.4	NP_065176.3	1	3	4	2.193440	Q8NEY1	NAV1_HUMAN		4	1683	+			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	1	1	hg19	c.1263C>T	CCDS1414.2	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.143284	1	0.170000	NM_020443			63	63		375	367	1		1	0		0	0	81	0		1	7.253872e-01	0	0	0	17	0	63	375
NAV1	89796	broad.mit.edu	37	1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367296.4	+	6	2704	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	762					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567																																						ENST00000367296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2284-2286)Gaa>Taa		neuron navigator 1							44.0	43.0	43.0					1																	201751924		2203	4300	6503	SO:0001587	stop_gained	89796	0	0					g.chr1:201751924G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2284G>T	chr1.hg19:g.201751924G>T	ENSP00000356265:p.Glu762*	1					NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*	p.E762*	NM_020443.4	NP_065176.3	1	3	4	2.193440	Q8NEY1	NAV1_HUMAN		6	2704	+			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	0	1	hg19	c.2284G>T	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.819315|10.819315	0.99472|0.99472	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|.	.|.	.|.	5.47|5.47	4.56|4.56	0.56223|0.56223	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	0.177079|.	0.48286|.	D|.	0.000192|.	.|T	.|0.53916	.|0.1826	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63915	.|-0.6529	.|3	0.12103|.	T|.	0.63|.	-28.5937|-28.5937	10.0968|10.0968	0.42480|0.42480	0.1543:0.0:0.8457:0.0|0.1543:0.0:0.8457:0.0	.|.	.|.	.|.	.|.	X|I	775;762;762;762;762;270;371|319	.|.	ENSP00000295624:E762X|.	E|R	+|+	1|2	0|0	0|0	NAV1|NAV1	200018547|200018547	200018547|200018547	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.989000|0.989000	0.77384|0.77384	5.855000|5.855000	0.69510|0.69510	1.336000|1.336000	0.45506|0.45506	-0.218000|-0.218000	0.12543|0.12543	GAA|AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_020443			74	69		262	258	0		1	0		0	0	68	0		1	9.816220e-01	0	0	0	25	0	74	262
NAV1	89796	broad.mit.edu	37	1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367296.4	+	7	3206	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	929					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557																																						ENST00000367296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(2785-2787)aGa>aTa		neuron navigator 1							41.0	45.0	43.0					1																	201752962		2203	4300	6503	SO:0001583	missense	89796	0	0					g.chr1:201752962G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2786G>T	chr1.hg19:g.201752962G>T	ENSP00000356265:p.Arg929Ile	1					NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I	p.R929I	NM_020443.4	NP_065176.3	1	3	4	2.193440	Q8NEY1	NAV1_HUMAN		7	3206	+			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	1	1	hg19	c.2786G>T	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.510195|3.510195	0.64522|0.64522	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.11;3.11;3.11;3.09;3.11	5.53|5.53	5.53|5.53	0.82687|0.82687	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.162145	.|0.50627	.|D	.|0.000111	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.47190|0.47190	1.495|1.495	0.52099|0.52099	D|D	0.999944|0.999944	.|P;P;P;D;P	.|0.71674	.|0.806;0.804;0.558;0.998;0.804	.|B;B;B;D;B	.|0.76575	.|0.312;0.324;0.12;0.988;0.324	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.87932	.|D	.|0	-26.312|-26.312	17.2444|17.2444	0.87023|0.87023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|929;538;929;437;929	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|I	486|942;929;929;929;929;437;538	.|ENSP00000356271:R942I;ENSP00000356265:R929I;ENSP00000295624:R929I;ENSP00000356266:R929I;ENSP00000356269:R929I;ENSP00000356264:R538I	.|ENSP00000295624:R929I	Q|R	+|+	3|2	2|0	2|0	NAV1|NAV1	200019585|200019585	200019585|200019585	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.905000|0.905000	0.53344|0.53344	5.349000|5.349000	0.66010|0.66010	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CAG|AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_020443			83	82		305	298	1		1	0		0	0	77	0		1	9.691357e-01	0	0	0	23	0	83	305
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367296.4	+	10	3531	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367300.3_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617																																						ENST00000367296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3109-3111)gcC>gcT		neuron navigator 1							124.0	108.0	113.0					1																	201757711		2203	4300	6503	SO:0001819	synonymous_variant	89796	1	121412	38				g.chr1:201757711C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3111C>T	chr1.hg19:g.201757711C>T		1					NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367300.3_Intron	p.A1037A	NM_020443.4	NP_065176.3	1	3	4	2.193440	Q8NEY1	NAV1_HUMAN		10	3531	+			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	1	1	hg19	c.3111C>T	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.4	4.49	0.54785	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.6555	9.0935	0.36625	0.1482:0.774:0.0:0.0777	.	.	.	.	X	595	.	.	R	+	1	2	2	NAV1	200024334	200024334	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.526000	0.85167	0.561000	0.74099	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	0	0	1		2	2	2	0		0	0	122		122	119	1	2.060000	-2.862736	1	0.170000	NM_020443			125	124		590	576	1		1	0		0	0	122	0		1	9.021026e-01	0	0	0	21	0	125	590
NAV1	89796	broad.mit.edu	37	1	201786359	201786359	+	Silent	SNP	C	C	T	rs371533327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367296.4	+	29	5904	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.P1434P|NAV1_ENST00000367302.1_Silent_p.P1781P|NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367300.3_Silent_p.P1768P|IPO9-AS1_ENST00000421449.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1828					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522																																						ENST00000367296.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(5482-5484)ccC>ccT		neuron navigator 1		C	,	0,4406		0,0,2203	85.0	76.0	79.0		4302,5484	-11.1	0.4	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1434/1484,1828/1878	201786359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89796	2	121412	36				g.chr1:201786359C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5484C>T	chr1.hg19:g.201786359C>T		1					NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000367295.1_Silent_p.P1434P|NAV1_ENST00000367302.1_Silent_p.P1781P|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367300.3_Silent_p.P1768P	p.P1828P	NM_020443.4	NP_065176.3	1	3	4	2.193440	Q8NEY1	NAV1_HUMAN		29	5904	+			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	1	1	hg19	c.5484C>T	CCDS1414.2	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.055868	1	0.170000	NM_020443			52	51		181	174	1		1	0		0	0	50	0		1	9.993864e-01	0	1	0	41	0	52	181
LMOD1	25802	broad.mit.edu	37	1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				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						GAGCTGCCTCCTCCTCCACCT	0.537																																						ENST00000367288.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(931-933)gaG>gaT		leiomodin 1 (smooth muscle)							68.0	68.0	68.0					1																	201869208		2053	4196	6249	SO:0001583	missense	25802	0	0					g.chr1:201869208C>A	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.933G>T	chr1.hg19:g.201869208C>A	ENSP00000356257:p.Glu311Asp	1					RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	p.E311D	NM_012134.2	NP_036266.2	1	3	4	2.193440	P29536	LMOD1_HUMAN		2	1179	-			B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	1	1	hg19	c.933G>T	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009822	0.19277	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	5.08	3.95	0.45737	5.08	3.95	0.45737	.	0.000000	0.40385	N	0.001120	D	0.85952	0.5817	L	0.45137	1.4	0.33461	D	0.584948	B;B	0.33448	0.355;0.412	B;B	0.27262	0.057;0.078	D	0.87607	0.2501	10	0.38643	T	0.18	-35.2165	9.3458	0.38107	0.0:0.8837:0.0:0.1163	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	D	311;311;260	ENSP00000356257:E311D	ENSP00000356257:E311D	E	-	3	2	2	LMOD1	200135831	200135831	0.530000	0.26330	1.000000	0.80357	0.280000	0.26924	-0.223000	0.09177	2.355000	0.79922	0.505000	0.49811	GAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				63	59		172	168	1		1	0		0	0	30	0		1	1	0	0	0	120	0	63	172
RNPEP	6051	broad.mit.edu	37	1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A	rs371058454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	515					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.0				GBM(19;39 479 7473 13131 19462)	ENST00000295640.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1543-1545)Gag>Aag		arginyl aminopeptidase (aminopeptidase B)		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74.0	63.0	67.0		1543	-3.7	0.0	1		67	0,8600		0,0,4300	no	missense	RNPEP	NM_020216.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	515/651	201972481	1,13005	2203	4300	6503	SO:0001583	missense	6051	4	121412	38				g.chr1:201972481G>A	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.1543G>A	chr1.hg19:g.201972481G>A	ENSP00000295640:p.Glu515Lys	1					RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	p.E515K	NM_020216.3	NP_064601.3	1	3	4	2.193440	Q9H4A4	AMPB_HUMAN		9	1586	+			Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	1	1	hg19	c.1543G>A	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	G	0.219	-1.030092	0.02045	2.27E-4	0.0	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.39787	1.06;1.06	5.33	-3.72	0.04411	5.33	-3.72	0.04411	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	1.082770	0.06964	N	0.816941	T	0.15998	0.0385	N	0.12182	0.205	0.09310	N	1	B;B	0.20052	0.041;0.016	B;B	0.20955	0.032;0.032	T	0.22941	-1.0202	10	0.06757	T	0.87	-6.6993	0.4726	0.00534	0.3803:0.2115:0.1831:0.2251	.	523;515	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	515;476	ENSP00000295640:E515K;ENSP00000356255:E476K	ENSP00000295640:E515K	E	+	1	0	0	RNPEP	200239104	200239104	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.531000	0.06171	-0.692000	0.05128	0.561000	0.74099	GAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_020216			61	60		170	168	1		1	1		0	0	49	0		1	1	0	52	0	201	0	61	170
OTUD3	23252	broad.mit.edu	37	1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	109	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			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)		GCAGCGGGAAGATTTTGAACC	0.438																																						ENST00000375120.3	1.000000	0.960000	1	9.800000e-01	0.990000	0.993398	0.990000	1.000000																										0				9						c.(325-327)Gat>Tat		OTU deubiquitinase 3							211.0	203.0	205.0					1																	20216981		1979	4165	6144	SO:0001583	missense	23252	0	0					g.chr1:20216981G>T	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.325G>T	chr1.hg19:g.20216981G>T	ENSP00000364261:p.Asp109Tyr	1					OTUD3_ENST00000466697.1_3'UTR	p.D109Y	NM_015207.1	NP_056022.1	0	1	1	1.828421	Q5T2D3	OTUD3_HUMAN		2	326	+		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)	O75047	Missense_Mutation	SNP	ENST00000375120.3	1	1	hg19	c.325G>T	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943063	0.53079	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.23	4.32	0.51571	5.23	4.32	0.51571	Ovarian tumour, otubain (2);	0.045448	0.85682	D	0.000000	T	0.33818	0.0876	L	0.53671	1.685	0.58432	D	0.999999	B	0.22604	0.072	B	0.26517	0.07	T	0.12811	-1.0533	10	0.02654	T	1	.	11.2403	0.48966	0.0867:0.0:0.9133:0.0	.	109	Q5T2D3	OTUD3_HUMAN	Y	109	ENSP00000364261:D109Y	ENSP00000364261:D109Y	D	+	1	0	0	OTUD3	20089568	20089568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.894000	0.92506	1.348000	0.45733	0.536000	0.68110	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				152	150		523	515	1		1	1		0	0	136	0		1	4.927540e-01	0	4	0	3	0	152	523
ELF3	1999	broad.mit.edu	37	1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637																																						ENST00000359651.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(667-669)gAt>gGt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							46.0	46.0	46.0					1																	201982144		2203	4300	6503	SO:0001583	missense	1999	0	0					g.chr1:201982144A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.668A>G	chr1.hg19:g.201982144A>G	ENSP00000352673:p.Asp223Gly	1					RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G	p.D223G			1	3	4	2.193440				5	3860	+				Missense_Mutation	SNP	ENST00000359651.3	1	1	hg19	c.668A>G	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425493	0.25639	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.53423	2.43;2.43;2.43;0.62	5.37	4.22	0.49857	5.37	4.22	0.49857	.	50.140900	0.01575	U	0.020794	T	0.48259	0.1490	M	0.68317	2.08	0.21064	N	0.999799	P	0.36282	0.546	B	0.31614	0.133	T	0.37103	-0.9720	10	0.22109	T	0.4	.	9.9729	0.41765	0.9223:0.0:0.0777:0.0	.	223	P78545	ELF3_HUMAN	G	223;223;223;200;221	ENSP00000352673:D223G;ENSP00000356253:D223G;ENSP00000356252:D223G;ENSP00000405162:D221G	ENSP00000311348:D200G	D	+	2	0	0	ELF3	200248767	200248767	1.000000	0.71417	0.343000	0.25615	0.125000	0.20455	6.381000	0.73163	0.858000	0.35431	0.459000	0.35465	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_004433			61	60		197	194	1		1	1		0	0	53	0		1	1	0	315	0	360	0	61	197
PLA2G2E	30814	broad.mit.edu	37	1	20248849	20248849	+	Silent	SNP	G	G	T	rs370199149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	76					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	TGGGCTCACAGCCCAGCTTCT	0.587																																						ENST00000375116.3	0.990000	0.530000	9.500000e-01	6.700000e-01	0.820000	0.815026	0.820000	0.910000																										0				10						c.(226-228)ggC>ggA		phospholipase A2, group IIE	Aminosalicylic Acid(DB00233)						57.0	57.0	57.0					1																	20248849		2203	4300	6503	SO:0001819	synonymous_variant	30814	0	0					g.chr1:20248849G>T	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.228C>A	chr1.hg19:g.20248849G>T		1						p.G76G	NM_014589.1	NP_055404.1	0	1	1	1.828421	Q9NZK7	PA2GE_HUMAN		3	285	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	Q5VXJ8	Silent	SNP	ENST00000375116.3	1	1	hg19	c.228C>A	CCDS200.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-19.995680	1	0.170000	NM_014589			16	16		165	163	1		1			0	0	47	0		9.999414e-01	0	0	0	0	0	0	16	165
LGR6	59352	broad.mit.edu	37	1	202279366	202279366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202279366G>T	ENST00000367278.3	+	16	1537	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	LGR6_ENST00000439764.2_Missense_Mutation_p.G344V|LGR6_ENST00000255432.7_Missense_Mutation_p.G431V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	483					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTCCCTATGGGATGTGTGCC	0.572																																						ENST00000367278.3	1.000000	0.090000	1	1.400000e-01	0.210000	0.382958	0.210000	0.200000																										0				36						c.(1447-1449)gGg>gTg		leucine-rich repeat containing G protein-coupled receptor 6							159.0	142.0	148.0					1																	202279366		2203	4300	6503	SO:0001583	missense	59352	0	0					g.chr1:202279366G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1448G>T	chr1.hg19:g.202279366G>T	ENSP00000356247:p.Gly483Val	1					LGR6_ENST00000255432.7_Missense_Mutation_p.G431V|LGR6_ENST00000439764.2_Missense_Mutation_p.G344V	p.G483V	NM_001017403.1	NP_001017403.1	1	3	4	2.193440	Q9HBX8	LGR6_HUMAN		16	1537	+			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	0	1	hg19	c.1448G>T	CCDS30971.1	0	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862951	0.32884	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.6;1.87	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.167430	0.52532	D	0.000063	T	0.66733	0.2819	L	0.46614	1.455	0.58432	D	0.99999	D;B;P	0.58268	0.982;0.046;0.857	P;B;P	0.61800	0.894;0.037;0.517	T	0.62234	-0.6897	10	0.32370	T	0.25	.	15.3359	0.74255	0.0:0.1392:0.8608:0.0	.	344;431;483	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	483;431;344	ENSP00000356247:G483V;ENSP00000255432:G431V;ENSP00000387869:G344V	ENSP00000255432:G431V	G	+	2	0	0	LGR6	200545989	200545989	1.000000	0.71417	0.320000	0.25306	0.802000	0.45316	6.026000	0.70873	2.679000	0.91253	0.655000	0.94253	GGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	0	0	0		2	2	2	0		0	0	155		155	152	1	2.060000	-2.331525	0	0.170000	NM_021636			10	10		681	671	0		1	1		0	0	155	0		9.966457e-01	4.938726e-02	0	2	0	20	0	10	681
KDM5B	10765	broad.mit.edu	37	1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1465					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483																																						ENST00000367265.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(4393-4395)Act>Gct		lysine (K)-specific demethylase 5B							219.0	202.0	208.0					1																	202698939		2203	4300	6503	SO:0001583	missense	10765	0	0					g.chr1:202698939T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4393A>G	chr1.hg19:g.202698939T>C	ENSP00000356234:p.Thr1465Ala	1					KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	p.T1465A	NM_006618.3	NP_006609.3	1	3	4	2.193440	Q9UGL1	KDM5B_HUMAN		26	5557	-			O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	1	1	hg19	c.4393A>G	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408742	0.25378	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84146	-1.81;-1.62	5.44	4.29	0.51040	5.44	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.242623	0.42964	D	0.000635	T	0.77418	0.4127	L	0.36672	1.1	0.29722	N	0.838543	B;B	0.19073	0.033;0.009	B;B	0.17979	0.02;0.005	T	0.66874	-0.5813	10	0.25106	T	0.35	-4.6225	11.5021	0.50444	0.0:0.0709:0.0:0.9291	.	1501;1465	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	1465;1307;1501	ENSP00000356234:T1465A;ENSP00000356233:T1501A	ENSP00000356233:T1501A	T	-	1	0	0	KDM5B	200965562	200965562	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.409000	0.52657	0.875000	0.35847	0.528000	0.53228	ACT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_006618			225	222		669	659	1		1	1		0	0	136	0		1	1	0	60	0	79	0	225	669
KDM5B	10765	broad.mit.edu	37	1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1357					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458																																						ENST00000367265.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(4069-4071)Cag>Tag		lysine (K)-specific demethylase 5B							93.0	84.0	87.0					1																	202700144		2203	4300	6503	SO:0001587	stop_gained	10765	0	0					g.chr1:202700144G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4069C>T	chr1.hg19:g.202700144G>A	ENSP00000356234:p.Gln1357*	1					KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	p.Q1357*	NM_006618.3	NP_006609.3	1	3	4	2.193440	Q9UGL1	KDM5B_HUMAN		25	5233	-			O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	0	1	hg19	c.4069C>T	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.013494	0.99775	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.14	6.14	0.99180	6.14	6.14	0.99180	.	0.100675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.1782	20.4548	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	1357;1199;1393;1199	.	ENSP00000235790:Q1199X	Q	-	1	0	0	KDM5B	200966767	200966767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.380273	1	0.170000	NM_006618			46	46		222	217	1		1	1		0	0	49	0		1	1	0	12	0	152	0	46	222
KDM5B	10765	broad.mit.edu	37	1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1034					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413																																						ENST00000367265.3	1.000000	0.600000	1	7.600000e-01	0.970000	0.906542	0.970000	1.000000																										0				6						c.(3100-3102)Cca>Tca		lysine (K)-specific demethylase 5B							86.0	79.0	81.0					1																	202705505		2203	4300	6503	SO:0001583	missense	10765	0	0					g.chr1:202705505G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3100C>T	chr1.hg19:g.202705505G>A	ENSP00000356234:p.Pro1034Ser	1					KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	p.P1034S	NM_006618.3	NP_006609.3	1	3	4	2.193440	Q9UGL1	KDM5B_HUMAN		21	4264	-			O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	1	1	hg19	c.3100C>T	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763091	0.89932	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.55052	0.54;0.54;0.54	5.66	5.66	0.87406	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.099013	0.64402	D	0.000001	T	0.75436	0.3849	M	0.81497	2.545	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.964	T	0.77225	-0.2666	10	0.72032	D	0.01	-6.9268	20.1253	0.97977	0.0:0.0:1.0:0.0	.	1070;1034	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	1034;876;1070;876	ENSP00000356234:P1034S;ENSP00000356233:P1070S;ENSP00000235790:P876S	ENSP00000235790:P876S	P	-	1	0	0	KDM5B	200972128	200972128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	2.832000	0.97577	0.655000	0.94253	CCA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_006618			22	19		298	295	0		1	0		0	0	53	0		9.999987e-01	9.716600e-01	0	0	0	81	0	22	298
KDM5B	10765	broad.mit.edu	37	1	202731903	202731903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202731903G>T	ENST00000367265.3	-	7	2006	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	281					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCTCAATAGGTTCTTGCTT	0.408																																						ENST00000367265.3	1.000000	0.220000	1	2.700000e-01	0.350000	0.485585	0.350000	0.330000																										0				6						c.(841-843)cCt>cAt		lysine (K)-specific demethylase 5B							299.0	292.0	295.0					1																	202731903		2202	4300	6502	SO:0001583	missense	10765	0	0					g.chr1:202731903G>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.842C>A	chr1.hg19:g.202731903G>T	ENSP00000356234:p.Pro281His	1					KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	p.P281H	NM_006618.3	NP_006609.3	1	3	4	2.193440	Q9UGL1	KDM5B_HUMAN		7	2006	-			O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	0	1	hg19	c.842C>A	CCDS30974.1	0	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880655	0.51801	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86230	-1.99;-1.81;-2.09	5.46	4.55	0.56014	5.46	4.55	0.56014	.	0.286976	0.42053	D	0.000769	D	0.83252	0.5214	L	0.39898	1.24	0.09310	N	1	D;P	0.61697	0.99;0.928	P;P	0.52031	0.688;0.664	T	0.72988	-0.4124	10	0.20519	T	0.43	-2.7053	6.0717	0.19893	0.2019:0.0:0.7981:0.0	.	317;281	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	281;123;317;123	ENSP00000356234:P281H;ENSP00000356233:P317H;ENSP00000235790:P123H	ENSP00000235790:P123H	P	-	2	0	0	KDM5B	200998526	200998526	0.090000	0.21635	0.760000	0.31359	0.748000	0.42578	1.460000	0.35244	2.554000	0.86153	0.561000	0.74099	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-2.383460	0	0.170000	NM_006618			27	27		1048	1025	0		1	0		0	0	144	0		9.999999e-01	6.970855e-01	0	1	0	94	0	27	1048
KDM5B	10765	broad.mit.edu	37	1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	140	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403																																						ENST00000367265.3	1.000000	0.720000	1	8.700000e-01	0.990000	0.956450	0.990000	1.000000																										0				6						c.(418-420)Gaa>Aaa		lysine (K)-specific demethylase 5B							115.0	104.0	108.0					1																	202742404		2203	4300	6503	SO:0001583	missense	10765	0	0					g.chr1:202742404C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.418G>A	chr1.hg19:g.202742404C>T	ENSP00000356234:p.Glu140Lys	1					KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	p.E140K	NM_006618.3	NP_006609.3	1	3	4	2.193440	Q9UGL1	KDM5B_HUMAN		4	1582	-			O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	1	1	hg19	c.418G>A	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488816	0.84962	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62941	-0.01;-0.01	5.79	5.79	0.91817	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.092379	0.85682	D	0.000000	T	0.59445	0.2194	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.45569	0.861;0.104	P;B	0.45712	0.491;0.262	T	0.57347	-0.7827	10	0.36615	T	0.2	-25.1694	16.9763	0.86314	0.0:0.8728:0.1272:0.0	.	140;140	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	140	ENSP00000356234:E140K;ENSP00000356233:E140K	ENSP00000356233:E140K	E	-	1	0	0	KDM5B	201009027	201009027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.118000	0.71583	2.740000	0.93945	0.563000	0.77884	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006618			32	31		383	375	0		1	1		0	0	60	0		1	9.804937e-01	0	5	0	72	0	32	383
KLHL12	59349	broad.mit.edu	37	1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000367259.1_5'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	243					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAAACTACAGCGGATGAAAGG	0.453																																						ENST00000367261.3	1.000000	0.280000	1	3.700000e-01	0.490000	0.588459	0.490000	0.450000																										0				14						c.(727-729)cGc>cAc		kelch-like family member 12							89.0	94.0	93.0					1																	202878242		2203	4300	6503	SO:0001583	missense	59349	0	0					g.chr1:202878242C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.728G>A	chr1.hg19:g.202878242C>T	ENSP00000356230:p.Arg243His	1					KLHL12_ENST00000367259.1_5'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H	p.R243H	NM_021633.2	NP_067646.1	1	3	4	2.193440	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)	6	946	-			A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	1	1	hg19	c.728G>A	CCDS1429.1	0	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009934	0.93346	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69306	-0.38;-0.39;-0.3	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.82433	2.59	0.80722	D	1	D;D;B	0.71674	0.981;0.998;0.013	B;P;B	0.54346	0.377;0.749;0.002	T	0.83233	-0.0062	10	0.66056	D	0.02	.	19.3442	0.94357	0.0:1.0:0.0:0.0	.	281;281;243	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	243;281;281	ENSP00000356230:R243H;ENSP00000416886:R281H;ENSP00000356227:R281H	ENSP00000356227:R281H	R	-	2	0	0	KLHL12	201144865	201144865	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.358000	0.79466	2.641000	0.89580	0.563000	0.77884	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.150991	1	0.170000	NM_021633			17	17		477	464	0		1	1		0	0	103	0		9.999576e-01	9.589580e-01	0	9	0	142	0	17	477
ADIPOR1	51094	broad.mit.edu	37	1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	233					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)			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)			TGAGCCGTGGCTGTGGGGAGC	0.507																																						ENST00000340990.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(697-699)caG>caT		adiponectin receptor 1							69.0	63.0	65.0					1																	202912992		2203	4300	6503	SO:0001583	missense	51094	0	0					g.chr1:202912992C>A		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.699G>T	chr1.hg19:g.202912992C>A	ENSP00000341785:p.Gln233His	1					ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	p.Q233H	NM_015999.4	NP_057083.2	1	3	4	2.193440	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)	6	997	-			B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	0	1	hg19	c.699G>T	CCDS1430.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152560|4.152560	0.78001|0.78001	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.99|5.99	4.99|4.99	0.66335|0.66335	5.99|5.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.25791	.|0.0628	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.27715	.|0.082	.|T	.|0.04216	.|-1.0968	.|10	.|0.15066	.|T	.|0.55	.|.	13.5456|13.5456	0.61702|0.61702	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|233	.|Q96A54	.|ADR1_HUMAN	.|H	-1|233	.|ENSP00000341785:Q233H;ENSP00000395469:Q233H;ENSP00000402178:Q233H	.|ENSP00000341785:Q233H	.|Q	-|-	.|3	.|2	.|2	ADIPOR1|ADIPOR1	201179615|201179615	201179615|201179615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.050000|4.050000	0.57404|0.57404	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	.|CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015999			41	40		168	167	1		1	1		0	0	40	0		1	1	0	225	0	644	0	41	168
ADIPOR1	51094	broad.mit.edu	37	1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	116					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)			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)			GGCATGGGAGGTCTATGACCA	0.502																																						ENST00000340990.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(346-348)Cct>Tct		adiponectin receptor 1							218.0	171.0	187.0					1																	202915651		2203	4300	6503	SO:0001583	missense	51094	1	121412	30				g.chr1:202915651G>A		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.346C>T	chr1.hg19:g.202915651G>A	ENSP00000341785:p.Pro116Ser	1					ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	p.P116S	NM_015999.4	NP_057083.2	1	3	4	2.193440	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)	4	644	-			B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	1	1	hg19	c.346C>T	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928091	0.92389	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96934	0.9683	10	0.38643	T	0.18	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	116	Q96A54	ADR1_HUMAN	S	116	ENSP00000341785:P116S;ENSP00000395469:P116S;ENSP00000402178:P116S;ENSP00000356223:P116S;ENSP00000392946:P116S	ENSP00000341785:P116S	P	-	1	0	0	ADIPOR1	201182274	201182274	1.000000	0.71417	0.127000	0.21898	0.796000	0.44982	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_015999			124	123		357	348	1		1	1		0	0	109	0		1	1	0	355	0	566	0	124	357
CYB5R1	51706	broad.mit.edu	37	1	202932821	202932821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	198					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)			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)	GGACTTTCAGGATGGCCCGGA	0.512																																						ENST00000367249.4	1.000000	0.250000	1	4.600000e-01	0.810000	0.762630	0.810000	1.000000																										0				12						c.(592-594)atC>atT		cytochrome b5 reductase 1	Flavin adenine dinucleotide(DB03147)						130.0	107.0	115.0					1																	202932821		2203	4300	6503	SO:0001819	synonymous_variant	51706	0	0					g.chr1:202932821G>A	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.594C>T	chr1.hg19:g.202932821G>A		1					CYB5R1_ENST00000497655.1_5'UTR	p.I198I	NM_016243.2	NP_057327.2	1	3	4	2.193440	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)	7	668	-			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	0	1	hg19	c.594C>T	CCDS1431.1	0	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255216	0.22965	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	5.01	0.66863	5.93	5.01	0.66863	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-5.9597	12.7787	0.57464	0.0791:0.0:0.9209:0.0	.	.	.	.	F	130	.	.	S	-	2	0	0	CYB5R1	201199444	201199444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.985000	0.49362	1.499000	0.48617	0.655000	0.94253	TCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-7.780638	1	0.170000	NM_016243			4	4		79	78	1		1	1		0	0	21	0		8.892311e-01	9.989391e-01	0	41	0	324	0	4	79
CYB5R1	51706	broad.mit.edu	37	1	202934626	202934626	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	116	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)			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)	CCTTCAGGTAGACCTTACAAG	0.507																																						ENST00000367249.4	1.000000	0.770000	1	9.000000e-01	0.990000	0.965371	0.990000	1.000000																										0				12						c.(346-348)gtC>gtA		cytochrome b5 reductase 1	Flavin adenine dinucleotide(DB03147)						111.0	105.0	107.0					1																	202934626		2203	4300	6503	SO:0001819	synonymous_variant	51706	0	0					g.chr1:202934626G>T	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.348C>A	chr1.hg19:g.202934626G>T		1					CYB5R1_ENST00000497655.1_5'Flank	p.V116V	NM_016243.2	NP_057327.2	1	3	4	2.193440	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)	5	422	-			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	1	1	hg19	c.348C>A	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823595	0.32237	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	-0.626	0.11544	5.93	-0.626	0.11544	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-5.3569	9.1318	0.36850	0.1388:0.4715:0.3897:0.0	.	.	.	.	Y	48	.	.	S	-	2	0	0	CYB5R1	201201249	201201249	0.985000	0.35326	0.968000	0.41197	0.867000	0.49689	0.224000	0.17738	-0.365000	0.08076	0.591000	0.81541	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-12.351180	1	0.170000	NM_016243			51	49		609	584	0		1	1		0	0	119	0		1	9.999922e-01	0	24	0	179	0	51	609
PPFIA4	8497	broad.mit.edu	37	1	203033018	203033018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000447715.2	+	30	3312	c.2871G>A	c.(2869-2871)ggG>ggA	p.G957G	PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000367240.2_Silent_p.G958G|PPFIA4_ENST00000414050.2_Silent_p.G686G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	957	SAM 2. {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)				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						CCAGCCTGGGGCTCCCGCAGT	0.592																																						ENST00000447715.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2869-2871)ggG>ggA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							58.0	67.0	63.0					1																	203033018		2203	4300	6503	SO:0001819	synonymous_variant	8497	0	0					g.chr1:203033018G>A	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.2871G>A	chr1.hg19:g.203033018G>A		1					PPFIA4_ENST00000367240.2_Silent_p.G958G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G	p.G957G			1	3	4	2.193440	O75335	LIPA4_HUMAN		30	3312	+			A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	1	1	hg19	c.2871G>A		1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_015053			64	64		353	350	1		1	0		0	0	66	0		1	1.171053e-01	0	0	0	4	0	64	353
MYOG	4656	broad.mit.edu	37	1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	77					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672																																						ENST00000241651.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(229-231)tCg>tTg		myogenin (myogenic factor 4)							60.0	66.0	64.0					1																	203054860		2203	4300	6503	SO:0001583	missense	4656	1	121412	32				g.chr1:203054860G>A	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.230C>T	chr1.hg19:g.203054860G>A	ENSP00000241651:p.Ser77Leu	1						p.S77L	NM_002479.5	NP_002470.2	1	3	4	2.193440	P15173	MYOG_HUMAN		1	304	-			Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	1	1	hg19	c.230C>T	CCDS1433.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724384	0.68959	.	.	ENSG00000122180	ENST00000241651	T	0.80033	-1.33	5.69	5.69	0.88448	5.69	5.69	0.88448	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.102169	0.64402	D	0.000003	T	0.78997	0.4372	L	0.57536	1.79	0.46298	D	0.998971	P	0.44429	0.835	B	0.40066	0.318	T	0.82283	-0.0534	10	0.87932	D	0	-18.011	16.1007	0.81169	0.0:0.1337:0.8663:0.0	.	77	P15173	MYOG_HUMAN	L	77	ENSP00000241651:S77L	ENSP00000241651:S77L	S	-	2	0	0	MYOG	201321483	201321483	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.896000	0.87350	2.683000	0.91414	0.563000	0.77884	TCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	1	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-8.971446	1	0.170000	NM_002479			224	220		615	600	1		1			0	0	103	0		1	0	0	0	0	0	0	224	615
CHIT1	1118	broad.mit.edu	37	1	203186203	203186203	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203186203G>T	ENST00000367229.1	-	11	1249	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	CHIT1_ENST00000255427.3_Silent_p.P386P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Silent_p.P396P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	405					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGTTCAGAGGGCTGACCTG	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367229.1	1.000000	0.210000	1	2.900000e-01	0.420000	0.530678	0.420000	0.360000																										0				27						c.(1213-1215)ccC>ccA		chitinase 1 (chitotriosidase)							77.0	77.0	77.0					1																	203186203		2203	4300	6503	SO:0001819	synonymous_variant	1118	0	0					g.chr1:203186203G>T	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.1215C>A	chr1.hg19:g.203186203G>T		1		OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	CHIT1_ENST00000535569.1_Silent_p.P396P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P	p.P405P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	1	3	4	2.193440	Q13231	CHIT1_HUMAN		11	1249	-			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	1	1	hg19	c.1215C>A	CCDS1436.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-2.946683	1	0.170000	NM_003465			12	12		411	402	0		1	0		0	0	83	0		9.990087e-01	8.796121e-01	0	0	0	131	0	12	411
CHIT1	1118	broad.mit.edu	37	1	203192262	203192262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000255427.3_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)						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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562																																						ENST00000367229.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.e6+1		chitinase 1 (chitotriosidase)							139.0	132.0	134.0					1																	203192262		2203	4300	6503	SO:0001630	splice_region_variant	1118	0	0					g.chr1:203192262C>A	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.605+1G>T	chr1.hg19:g.203192262C>A		1					CHIT1_ENST00000535569.1_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site		NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	1	3	4	2.193440	Q13231	CHIT1_HUMAN		6	640	-			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Splice_Site	SNP	ENST00000367229.1	1	1	hg19		CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156689	0.38119	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.62	3.71	0.42584	4.62	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9969	0.47582	0.0:0.9062:0.0:0.0938	.	.	.	.	.	-1	.	.	.	-	.	.	.	CHIT1	201458885	201458885	1.000000	0.71417	0.739000	0.30968	0.434000	0.31775	5.178000	0.65037	1.032000	0.39892	0.655000	0.94253	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	0	0	0		2	2	2	0		0	0	142		142	138	1	2.060000	-20.000000	1	0.170000	NM_003465	Intron		163	161		743	730	1		1	0		0	0	142	0		1	0	0	0	0	1	0	163	743
CHIT1	1118	broad.mit.edu	37	1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	172					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612																																						ENST00000367229.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(514-516)Acc>Ccc		chitinase 1 (chitotriosidase)							121.0	112.0	115.0					1																	203192354		2203	4300	6503	SO:0001583	missense	1118	0	0					g.chr1:203192354T>G	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.514A>C	chr1.hg19:g.203192354T>G	ENSP00000356198:p.Thr172Pro	1					CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	p.T172P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	1	3	4	2.193440	Q13231	CHIT1_HUMAN		6	548	-			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	1	1	hg19	c.514A>C	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030107	0.07543	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35048	1.33;1.33;1.33	4.62	-9.25	0.00666	4.62	-9.25	0.00666	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.613330	0.01479	N	0.016587	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.08066	-1.0740	10	0.29301	T	0.29	-6.2198	4.2602	0.10737	0.3045:0.4553:0.1027:0.1376	.	163;172	G5EA51;Q13231	.;CHIT1_HUMAN	P	172;153;163	ENSP00000356198:T172P;ENSP00000255427:T153P;ENSP00000438078:T163P	ENSP00000255427:T153P	T	-	1	0	0	CHIT1	201458977	201458977	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-2.245000	0.00705	-0.333000	0.08304	ACC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	1	0	0		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000	NM_003465			161	161		526	521	1		1	0		0	0	134	0		1	1	0	0	0	85	0	161	526
CHIT1	1118	broad.mit.edu	37	1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	128					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567																																						ENST00000367229.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(382-384)cGc>cAc		chitinase 1 (chitotriosidase)							154.0	139.0	144.0					1																	203192720		2203	4300	6503	SO:0001583	missense	1118	11	121412	44				g.chr1:203192720C>T	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.383G>A	chr1.hg19:g.203192720C>T	ENSP00000356198:p.Arg128His	1					CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H	p.R128H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	1	3	4	2.193440	Q13231	CHIT1_HUMAN		5	417	-			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	1	1	hg19	c.383G>A	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847641	0.51164	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07114	3.22;3.22;3.22	5.0	4.09	0.47781	5.0	4.09	0.47781	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.132232	0.34906	N	0.003582	T	0.27765	0.0683	M	0.76938	2.355	0.49389	D	0.99978	D;D	0.89917	0.998;1.0	P;D	0.91635	0.87;0.999	T	0.01468	-1.1347	10	0.66056	D	0.02	-5.7151	11.2471	0.49004	0.0:0.9098:0.0:0.0902	.	119;128	G5EA51;Q13231	.;CHIT1_HUMAN	H	128;109;119	ENSP00000356198:R128H;ENSP00000255427:R109H;ENSP00000438078:R119H	ENSP00000255427:R109H	R	-	2	0	0	CHIT1	201459343	201459343	0.998000	0.40836	0.503000	0.27626	0.339000	0.28857	4.054000	0.57434	1.084000	0.41184	0.643000	0.83706	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_003465			149	144		585	574	1		1	0		0	0	125	0		1	1	0	0	0	102	0	149	585
BTG2	7832	broad.mit.edu	37	1	203274801	203274801	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	ENST00000290551.4	+	1	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	23					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCTCCAGCCTCCTGAGGAC	0.697																																						ENST00000290551.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999798	0.990000	1.000000																										0				9						c.(67-69)Ctc>Atc		BTG family, member 2							17.0	16.0	16.0					1																	203274801		2173	4271	6444	SO:0001583	missense	7832	0	0					g.chr1:203274801C>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.67C>A	chr1.hg19:g.203274801C>A	ENSP00000290551:p.Leu23Ile	1					RP11-134P9.1_ENST00000457348.1_lincRNA	p.L23I	NM_006763.2	NP_006754.1	1	3	4	2.193440	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)	1	138	+			A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	0	1	hg19	c.67C>A	CCDS1437.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654850	0.67472	.	.	ENSG00000159388	ENST00000290551	T	0.26373	1.74	4.66	3.73	0.42828	4.66	3.73	0.42828	Anti-proliferative protein (3);	0.000000	0.64402	D	0.000017	T	0.27933	0.0688	M	0.63169	1.94	0.43766	D	0.996284	B	0.22414	0.069	B	0.33750	0.169	T	0.07539	-1.0767	10	0.33940	T	0.23	-39.2938	8.6148	0.33824	0.0:0.8197:0.0:0.1803	.	23	P78543	BTG2_HUMAN	I	23	ENSP00000290551:L23I	ENSP00000290551:L23I	L	+	1	0	0	BTG2	201541424	201541424	0.980000	0.34600	1.000000	0.80357	0.753000	0.42808	1.433000	0.34947	2.425000	0.82216	0.478000	0.44815	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-19.985030	1	0.170000	NM_006763			8	8		25	25	0		1	1		0	0	10	0		9.924917e-01	9.999999e-01	0	12	0	189	0	8	25
PRELP	5549	broad.mit.edu	37	1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	8					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)			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)			CCTCTGCTGGCTCCTCCCACT	0.592																																						ENST00000343110.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(22-24)Ctc>Atc		proline/arginine-rich end leucine-rich repeat protein							85.0	89.0	87.0					1																	203452334		2203	4298	6501	SO:0001583	missense	5549	0	0					g.chr1:203452334C>A	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.22C>A	chr1.hg19:g.203452334C>A	ENSP00000343924:p.Leu8Ile	1						p.L8I	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	1	3	4	2.193440	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)	2	149	+			Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	1	1	hg19	c.22C>A	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215986	0.39201	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	5.09	-0.72	0.11195	5.09	-0.72	0.11195	.	0.975835	0.08385	N	0.953853	T	0.18087	0.0434	N	0.08118	0	0.35990	D	0.836638	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.13470	T	0.59	-1.156	4.4875	0.11797	0.234:0.4619:0.2291:0.075	.	8	P51888	PRELP_HUMAN	I	8	ENSP00000343924:L8I	ENSP00000343924:L8I	L	+	1	0	0	PRELP	201718957	201718957	0.069000	0.21087	1.000000	0.80357	0.988000	0.76386	-1.025000	0.03600	0.151000	0.19162	0.462000	0.41574	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	0	0	1		18	18	2	1		1	1	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_002725			135	133		677	666	1		1	0		1	0	160	0		1	1	0	0	0	808	0	135	677
ATP2B4	493	broad.mit.edu	37	1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	550					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)			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)			GAAGCAGGATTATCAGGCTGT	0.542																																						ENST00000357681.5	1.000000	0.170000	1	2.500000e-01	0.360000	0.489533	0.360000	0.320000																										0				56						c.(1648-1650)Tat>Cat		ATPase, Ca++ transporting, plasma membrane 4							100.0	87.0	92.0					1																	203678519		2203	4300	6503	SO:0001583	missense	493	0	0					g.chr1:203678519T>C	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.1648T>C	chr1.hg19:g.203678519T>C	ENSP00000350310:p.Tyr550His	1					ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	p.Y550H	NM_001684.4	NP_001675.3	1	3	4	2.193440	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)	11	2771	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	1	1	hg19	c.1648T>C	CCDS1440.1	0	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330841	0.60853	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.52	5.52	0.82312	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.48286	D	0.000184	D	0.97692	0.9243	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;P;D	0.91635	0.999;0.848;0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-12.6719	15.3051	0.73987	0.0:0.0:0.0:1.0	.	550;550;550	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	550;550;538;550;550	ENSP00000350310:Y550H;ENSP00000356187:Y550H;ENSP00000356188:Y538H;ENSP00000375816:Y550H;ENSP00000340930:Y550H	ENSP00000340930:Y550H	Y	+	1	0	0	ATP2B4	201945142	201945142	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	8.008000	0.88588	2.094000	0.63399	0.460000	0.39030	TAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-10.459780	1	0.170000	NM_001001396			11	11		440	437	0		1	0		0	0	78	0		9.983126e-01	7.807984e-01	0	1	0	115	0	11	440
LAX1	54900	broad.mit.edu	37	1	203743398	203743398	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367217.5_Silent_p.S246S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	262					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)			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)			AAGGTTCTTCTCAGATCTCAA	0.488																																						ENST00000442561.2	1.000000	0.670000	1	8.800000e-01	0.990000	0.957494	0.990000	1.000000																										0				24						c.(784-786)tcT>tcG		lymphocyte transmembrane adaptor 1							73.0	74.0	74.0					1																	203743398		2203	4300	6503	SO:0001819	synonymous_variant	54900	0	0					g.chr1:203743398T>G	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.786T>G	chr1.hg19:g.203743398T>G		1					LAX1_ENST00000367217.5_Silent_p.S246S|LAX1_ENST00000367215.1_3'UTR	p.S262S	NM_017773.3	NP_060243.2	1	3	4	2.193440	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)	5	1176	+	all_cancers(21;0.0915)		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Silent	SNP	ENST00000442561.2	1	1	hg19	c.786T>G	CCDS1441.2	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.999350	1	0.170000	NM_017773			17	17		192	190	0		1	0		0	0	43	0		9.999692e-01	7.890234e-01	0	0	0	35	0	17	192
ZC3H11A	9877	broad.mit.edu	37	1	203817479	203817479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203817479C>A	ENST00000545588.1	+	13	5394	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	523					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGAAGAACCTTCAGGAAGG	0.303																																						ENST00000545588.1	1.000000	0.120000	1	1.800000e-01	0.280000	0.429632	0.280000	0.230000																										0				32						c.(1567-1569)Ctt>Att		zinc finger CCCH-type containing 11A							125.0	126.0	126.0					1																	203817479		2203	4298	6501	SO:0001583	missense	9877	0	0					g.chr1:203817479C>A		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.1567C>A	chr1.hg19:g.203817479C>A	ENSP00000438527:p.Leu523Ile	1					ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I	p.L523I	NM_001271675.1	NP_001258604.1	1	3	4	2.193440	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)	13	5394	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	0	1	hg19	c.1567C>A	CCDS30978.1	0	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083034	0.36758	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.65	2.73	0.32206	5.65	2.73	0.32206	.	0.188080	0.32918	N	0.005483	T	0.41143	0.1146	M	0.65975	2.015	0.28449	N	0.916402	P	0.36959	0.575	B	0.35607	0.206	T	0.31392	-0.9945	10	0.37606	T	0.19	-16.4057	6.7541	0.23503	0.0:0.6956:0.1442:0.1602	.	523	O75152	ZC11A_HUMAN	I	523;469;523;523;523;523	ENSP00000356183:L523I;ENSP00000356181:L523I;ENSP00000333253:L523I;ENSP00000438527:L523I;ENSP00000356179:L523I	ENSP00000333253:L523I	L	+	1	0	0	ZC3H11A	202084102	202084102	0.293000	0.24371	0.946000	0.38457	0.973000	0.67179	0.819000	0.27308	0.398000	0.25338	-0.143000	0.13931	CTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-2.545736	1	0.170000	NM_014827			8	7		428	421	0		1	1		0	0	77	0		9.886845e-01	9.440780e-01	0	4	0	268	0	8	428
SNRPE	6635	broad.mit.edu	37	1	203839004	203839004	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000483099.1_Splice_Site|SNRPE_ENST00000367208.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E						gene expression (GO:0010467)|hair cycle (GO:0042633)|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 complex assembly (GO:0000245)|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)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGTTGCAGGTCGGATCAT	0.333																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				5						c.e5-1		small nuclear ribonucleoprotein polypeptide E							169.0	163.0	165.0					1																	203839004		2203	4300	6503	SO:0001630	splice_region_variant	6635	0	0					g.chr1:203839004G>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.224-1G>A	chr1.hg19:g.203839004G>A		1					SNRPE_ENST00000483099.1_Splice_Site|SNRPE_ENST00000367208.1_Splice_Site		NM_003094.2	NP_003085.1	1	3	4	2.193440	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)	5	268	+	all_cancers(21;0.103)		B2R5B9|P08578|Q15498|Q5BKT2	Splice_Site	SNP	ENST00000414487.2	1	1	hg19		CCDS30979.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440462	0.63067	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SNRPE	202105627	202105627	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.895000	0.87343	2.861000	0.98227	0.655000	0.94253	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-13.468220	1	0.170000	NM_003094	Intron		23	23		131	131	1		1	0		0	0	26	0		9.999997e-01	2.449780e-02	0	1	0	1	0	23	131
SOX13	9580	broad.mit.edu	37	1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	270	Pro-rich.			P -> L (in Ref. 4; AAD50120). {ECO:0000305}.	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)			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)			GCACAGCCCCCCTGCCCCAGT	0.622																																						ENST00000367204.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998509	0.990000	1.000000																										0				13						c.(808-810)Cct>Tct		SRY (sex determining region Y)-box 13							41.0	43.0	42.0					1																	204091060		2007	4171	6178	SO:0001583	missense	9580	0	0					g.chr1:204091060C>T		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.808C>T	chr1.hg19:g.204091060C>T	ENSP00000356172:p.Pro270Ser	1						p.P270S	NM_005686.2	NP_005677.2	1	3	4	2.193440	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	8	917	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	1	1	hg19	c.808C>T	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164944	0.09287	.	.	ENSG00000143842	ENST00000367204	D	0.97620	-4.46	4.95	4.03	0.46877	4.95	4.03	0.46877	.	0.103506	0.64402	D	0.000003	D	0.95252	0.8460	L	0.56769	1.78	0.32679	N	0.515761	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.002;0.003;0.003	D	0.94865	0.8025	10	0.59425	D	0.04	.	13.4842	0.61355	0.0:0.8434:0.1566:0.0	.	137;137;270	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	270	ENSP00000356172:P270S	ENSP00000356172:P270S	P	+	1	0	0	SOX13	202357683	202357683	0.380000	0.25131	0.838000	0.33150	0.942000	0.58702	2.406000	0.44557	1.039000	0.40074	0.561000	0.74099	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.079833	1	0.170000	NM_005686			18	18		128	128	1		1	1		0	0	26	0		9.999878e-01	9.980797e-01	0	17	0	59	0	18	128
ETNK2	55224	broad.mit.edu	37	1	204109165	204109165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	ENST00000367202.4	-	5	1016	c.866C>T	c.(865-867)gCa>gTa	p.A289V	RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367199.2_Missense_Mutation_p.A220V	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	289					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)			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)			CCTCTCACCTGCAAACTCATT	0.428																																						ENST00000367202.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(865-867)gCa>gTa		ethanolamine kinase 2							162.0	136.0	145.0					1																	204109165		2203	4300	6503	SO:0001583	missense	55224	0	0					g.chr1:204109165G>A	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.866C>T	chr1.hg19:g.204109165G>A	ENSP00000356170:p.Ala289Val	1					ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367199.2_Missense_Mutation_p.A220V|RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V	p.A289V	NM_018208.2	NP_060678.2	1	3	4	2.193440	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	5	1016	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	1	1	hg19	c.866C>T	CCDS1442.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.679705|5.679705	0.96774|0.96774	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23;0.23|.	5.4|5.4	5.4|5.4	0.78164|0.78164	5.4|5.4	5.4|5.4	0.78164|0.78164	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76891|.	0.4051|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.994;1.0;1.0|.	P;D;D|.	0.85130|.	0.88;0.996;0.997|.	T|.	0.77362|.	-0.2616|.	10|.	0.46703|.	T|.	0.11|.	-22.5584|-22.5584	16.9596|16.9596	0.86269|0.86269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;289;289|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	V|X	289;289;220;155;111;155;146;135|52	ENSP00000356169:A289V;ENSP00000356170:A289V;ENSP00000356167:A220V;ENSP00000356166:A111V;ENSP00000405497:A155V;ENSP00000398091:A146V;ENSP00000406241:A135V|.	ENSP00000356166:A111V|.	A|Q	-|-	2|1	0|0	0|0	ETNK2|ETNK2	202375788|202375788	202375788|202375788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.928000|8.928000	0.92853|0.92853	2.525000|2.525000	0.85131|0.85131	0.650000|0.650000	0.86243|0.86243	GCA|CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-5.237648	1	0.170000	NM_018208			101	100		306	302	1		1	1		0	0	83	0		1	9.999072e-01	0	10	0	34	0	101	306
REN	5972	broad.mit.edu	37	1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000272190.8	-	5	695	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000367195.2_Missense_Mutation_p.V223I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	223					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)			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)	AAAGAGAAGACGTCCTCTTTT	0.562																																						ENST00000272190.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(667-669)Gtc>Atc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						112.0	102.0	106.0					1																	204128549		2203	4300	6503	SO:0001583	missense	5972	0	0					g.chr1:204128549C>T	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.667G>A	chr1.hg19:g.204128549C>T	ENSP00000272190:p.Val223Ile	1					REN_ENST00000367195.2_Missense_Mutation_p.V223I	p.V223I	NM_000537.3	NP_000528.1	1	3	4	2.193440	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	5	695	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	1	1	hg19	c.667G>A	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291027	0.23564	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.59906	0.23;0.23	5.35	4.44	0.53790	5.35	4.44	0.53790	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124071	0.56097	D	0.000033	T	0.52901	0.1763	L	0.31752	0.955	0.58432	D	0.999998	B	0.31949	0.348	P	0.45406	0.479	T	0.48375	-0.9041	10	0.25751	T	0.34	.	10.1333	0.42691	0.0:0.8451:0.0:0.1549	.	223	P00797	RENI_HUMAN	I	223;142;223	ENSP00000356163:V223I;ENSP00000272190:V223I	ENSP00000272190:V223I	V	-	1	0	0	REN	202395172	202395172	0.993000	0.37304	0.821000	0.32701	0.001000	0.01503	3.078000	0.50096	1.261000	0.44149	-0.300000	0.09419	GTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_000537			85	83		312	301	1		1			0	0	83	0		1	0	0	0	0	0	0	85	312
REN	5972	broad.mit.edu	37	1	204130425	204130425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204130425G>A	ENST00000272190.8	-	3	396	c.368C>T	c.(367-369)gCc>gTc	p.A123V	REN_ENST00000367195.2_Missense_Mutation_p.A123V	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	123					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)			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)	CTCACCACAGGCAGTGTAGAG	0.582																																						ENST00000272190.8	1.000000	0.230000	1	3.900000e-01	0.660000	0.686100	0.660000	1.000000																										0				19						c.(367-369)gCc>gTc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						87.0	65.0	72.0					1																	204130425		2203	4300	6503	SO:0001583	missense	5972	0	0					g.chr1:204130425G>A	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.368C>T	chr1.hg19:g.204130425G>A	ENSP00000272190:p.Ala123Val	1					REN_ENST00000367195.2_Missense_Mutation_p.A123V	p.A123V	NM_000537.3	NP_000528.1	1	3	4	2.193440	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	3	396	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	0	1	hg19	c.368C>T	CCDS30981.1	0	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500692	0.85176	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.61040	0.14;0.14	5.37	5.37	0.77165	5.37	5.37	0.77165	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.61387	1.9	0.80722	D	1	D	0.58970	0.984	P	0.53313	0.723	T	0.72633	-0.4234	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	123	P00797	RENI_HUMAN	V	123;42;123	ENSP00000356163:A123V;ENSP00000272190:A123V	ENSP00000272190:A123V	A	-	2	0	0	REN	202397048	202397048	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.353000	0.97080	2.501000	0.84356	0.655000	0.94253	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	0	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-8.068659	1	0.170000	NM_000537			5	4		119	117	0		1			0	0	17	0		9.347772e-01	0	0	0	0	0	0	5	119
KISS1	3814	broad.mit.edu	37	1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726																																						ENST00000367194.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(166-168)aGg>aAg		KiSS-1 metastasis-suppressor							9.0	11.0	10.0					1																	204159862		1448	3383	4831	SO:0001583	missense	3814	0	0					g.chr1:204159862C>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.167G>A	chr1.hg19:g.204159862C>T	ENSP00000356162:p.Arg56Lys	1						p.R56K	NM_002256.3	NP_002247.3	1	3	4	2.193440	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	3	315	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	1	1	hg19	c.167G>A	CCDS41454.1	1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316310	0.10789	.	.	ENSG00000170498	ENST00000367194	T	0.79653	-1.29	4.13	-2.12	0.07165	4.13	-2.12	0.07165	.	1.205720	0.06169	N	0.677340	T	0.64505	0.2604	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06891	T	0.86	-0.7887	4.1234	0.10116	0.0:0.2389:0.3513:0.4098	.	56	Q15726	KISS1_HUMAN	K	56	ENSP00000356162:R56K	ENSP00000356162:R56K	R	-	2	0	0	KISS1	202426485	202426485	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-0.284000	0.09102	-0.165000	0.13383	AGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_002256			22	23		79	79	0		1	0		0	0	18	0		9.999996e-01	3.120284e-01	0	1	0	4	0	22	79
GOLT1A	127845	broad.mit.edu	37	1	204170873	204170873	+	Missense_Mutation	SNP	G	G	A	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	ENST00000308302.3	-	3	369	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGTTTGTGCCGTTGGAAGAAG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0					ENST00000308302.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(184-186)Cgg>Tgg		golgi transport 1A							138.0	145.0	143.0					1																	204170873		2203	4300	6503	SO:0001583	missense	127845	377	121412	60				g.chr1:204170873G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.184C>T	chr1.hg19:g.204170873G>A	ENSP00000308535:p.Arg62Trp	1					GOLT1A_ENST00000475517.1_5'Flank	p.R62W	NM_198447.1	NP_940849.1	1	3	4	2.193440			KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)	3	369	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)			Missense_Mutation	SNP	ENST00000308302.3	1	0	hg19	c.184C>T	CCDS1443.1	1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608368	0.46527	.	.	ENSG00000174567	ENST00000308302	T	0.47177	0.85	5.47	2.3	0.28687	5.47	2.3	0.28687	.	0.000000	0.56097	D	0.000036	T	0.50394	0.1613	M	0.76938	2.355	0.45995	D	0.998804	B	0.29481	0.245	B	0.30782	0.12	T	0.52548	-0.8561	10	0.54805	T	0.06	-23.2114	14.2653	0.66113	0.0:0.0:0.3024:0.6976	.	62	Q6ZVE7	GOT1A_HUMAN	W	62	ENSP00000308535:R62W	ENSP00000308535:R62W	R	-	1	2	2	GOLT1A	202437496	202437496	0.520000	0.26250	0.999000	0.59377	0.938000	0.57974	0.848000	0.27710	0.153000	0.19213	0.643000	0.83706	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-4.294018	1	0.170000	NM_198447			112	111		575	565	1		1	1		0	0	128	0		1	9.999223e-01	0	39	0	32	0	112	575
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G	rs537467435	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					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.E540D(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)			CCCAGTCATCTTCCTCCCCAG	0.458																																						ENST00000367188.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E540D(1)	kidney(1)	34						c.(1618-1620)gaA>gaC		protein phosphatase 1, regulatory subunit 15B							58.0	58.0	58.0					1																	204378920		2203	4300	6503	SO:0001583	missense	84919	0	0					g.chr1:204378920T>G	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.1620A>C	chr1.hg19:g.204378920T>G	ENSP00000356156:p.Glu540Asp	1					RP11-739N20.2_ENST00000443515.1_RNA	p.E540D	NM_032833.3	NP_116222.3	1	3	4	2.193440	Q5SWA1	PR15B_HUMAN	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)	1	1999	-	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)		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	1	1	hg19	c.1620A>C	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615334	0.46631	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	2	PPP1R15B	202645543	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_032833			75	74		188	184	1		1	1		0	0	49	0		1	1	0	53	0	86	0	75	188
PIK3C2B	5287	broad.mit.edu	37	1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T	rs370165316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q|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	1586	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CTGGAGCTCCCGCTGCTGCAG	0.572																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(4756-4758)cGg>cAg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		C	GLN/ARG	0,4406		0,0,2203	68.0	57.0	61.0		4757	5.3	1.0	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1586/1635	204394128	1,13005	2203	4300	6503	SO:0001583	missense	5287	2	121412	32				g.chr1:204394128C>T	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.4757G>A	chr1.hg19:g.204394128C>T	ENSP00000356155:p.Arg1586Gln	1					RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q	p.R1586Q	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	34	5313	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.4757G>A	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965639	0.92855	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78595	-1.19;-1.19	5.26	5.26	0.73747	5.26	5.26	0.73747	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	D	0.86908	0.6046	M	0.64080	1.96	0.43408	D	0.995544	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.87946	0.2720	10	0.72032	D	0.01	.	18.464	0.90749	0.0:1.0:0.0:0.0	.	1558;1586	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1586;1558	ENSP00000356155:R1586Q;ENSP00000400561:R1558Q	ENSP00000356155:R1586Q	R	-	2	0	0	PIK3C2B	202660751	202660751	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.775000	0.85489	2.465000	0.83290	0.655000	0.94253	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-3.571059	1	0.170000	NM_002646			34	33		126	123	1		1	1		0	0	37	0		1	9.999969e-01	0	26	0	53	0	34	126
PIK3C2B	5287	broad.mit.edu	37	1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R|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	1267	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			CTTGCGAATGAGGTTGTAGGC	0.502																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(3799-3801)cTc>cGc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							180.0	163.0	169.0					1																	204402964		2203	4300	6503	SO:0001583	missense	5287	0	0					g.chr1:204402964A>C	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.3800T>G	chr1.hg19:g.204402964A>C	ENSP00000356155:p.Leu1267Arg	1					RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R	p.L1267R	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	26	4356	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.3800T>G	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688735	0.68271	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.82081	-1.57;-1.57	5.89	5.89	0.94794	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.072137	0.56097	D	0.000027	D	0.87853	0.6282	L	0.47716	1.5	0.49915	D	0.999835	B;D	0.64830	0.002;0.994	B;D	0.65573	0.017;0.936	D	0.88456	0.3052	10	0.59425	D	0.04	.	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1239;1267	F5GWN5;O00750	.;P3C2B_HUMAN	R	1267;45;1239	ENSP00000356155:L1267R;ENSP00000400561:L1239R	ENSP00000356155:L1267R	L	-	2	0	0	PIK3C2B	202669587	202669587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.236000	0.78154	2.246000	0.74042	0.533000	0.62120	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	0		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_002646			168	165		894	869	1		1	1		0	0	191	0		1	9.938998e-01	0	13	0	30	0	168	894
PIK3C2B	5287	broad.mit.edu	37	1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H|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	1253	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			ATCATGGAAGCGGCTGGAAGG	0.557																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(3757-3759)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							129.0	114.0	119.0					1																	204403006		2203	4300	6503	SO:0001583	missense	5287	0	0					g.chr1:204403006C>T	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.3758G>A	chr1.hg19:g.204403006C>T	ENSP00000356155:p.Arg1253His	1					RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	p.R1253H	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	26	4314	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.3758G>A	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.247408	0.95305	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75704	-0.96;-0.96	5.89	5.89	0.94794	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.065160	0.64402	D	0.000002	T	0.77585	0.4152	N	0.12961	0.28	0.58432	D	0.999992	P;D	0.89917	0.879;1.0	B;D	0.91635	0.334;0.999	T	0.77127	-0.2702	10	0.34782	T	0.22	.	19.8527	0.96746	0.0:1.0:0.0:0.0	.	1225;1253	F5GWN5;O00750	.;P3C2B_HUMAN	H	1253;31;1225	ENSP00000356155:R1253H;ENSP00000400561:R1225H	ENSP00000356155:R1253H	R	-	2	0	0	PIK3C2B	202669629	202669629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.731000	0.84895	2.783000	0.95769	0.655000	0.94253	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	0		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_002646			218	210		515	500	1		1	1		0	0	134	0		1	9.999999e-01	0	23	0	33	0	218	515
PIK3C2B	5287	broad.mit.edu	37	1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A	rs200513505	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1118	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			GAGAAGCAGCGGAAGATGACC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		19486	0.0		0.004	False		,,,				2504	0.0					ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(3352-3354)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							123.0	107.0	112.0					1																	204409347		2203	4300	6503	SO:0001583	missense	5287	119	121412	54				g.chr1:204409347G>A	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.3352C>T	chr1.hg19:g.204409347G>A	ENSP00000356155:p.Arg1118Cys	1					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	p.R1118C	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	23	3908	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.3352C>T	CCDS1446.1	1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	24.5	4.534673	0.85812	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82344	-1.6;-1.6	6.06	5.13	0.70059	6.06	5.13	0.70059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.053074	0.64402	D	0.000001	D	0.87977	0.6314	M	0.84433	2.695	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.828	D	0.89881	0.4030	10	0.72032	D	0.01	.	11.8058	0.52155	0.0:0.1332:0.7284:0.1384	.	1090;1118	F5GWN5;O00750	.;P3C2B_HUMAN	C	1118;1090	ENSP00000356155:R1118C;ENSP00000400561:R1090C	ENSP00000356155:R1118C	R	-	1	0	0	PIK3C2B	202675970	202675970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.842000	0.48230	1.534000	0.49203	0.650000	0.86243	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.807000	1	0.170000	NM_002646			69	69		429	419	1		1	1		0	0	103	0		1	9.918576e-01	0	15	0	33	0	69	429
PIK3C2B	5287	broad.mit.edu	37	1	204409450	204409450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						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)			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)			CGTCCCCACACTGGATGGAGG	0.552																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.e23-1		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							118.0	109.0	112.0					1																	204409450		2203	4300	6503	SO:0001630	splice_region_variant	5287	0	0					g.chr1:204409450C>T	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.3250-1G>A	chr1.hg19:g.204409450C>T		1					PIK3C2B_ENST00000424712.2_Splice_Site		NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	23	3806	-	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)		O95666|Q5SW99	Splice_Site	SNP	ENST00000367187.3	1	1	hg19		CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.074567	0.94000	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PIK3C2B	202676073	202676073	1.000000	0.71417	0.996000	0.52242	0.525000	0.34531	7.752000	0.85141	2.655000	0.90218	0.650000	0.86243	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	0	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_002646	Intron		100	98		320	310	1		1			0	0	81	0		1	0	0	0	0	0	0	100	320
PIK3C2B	5287	broad.mit.edu	37	1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A	rs201178287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)			TTAAGCTTGCGCTGGTCTTCT	0.552													G|||	3	0.000599042	0.0	0.0014	5008	,	,		15902	0.0		0.002	False		,,,				2504	0.0					ENST00000367187.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993651	0.990000	1.000000																										0				52						c.(2449-2451)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		2449	4.2	0.8	1		77	0,8600		0,0,4300	yes	missense	PIK3C2B	NM_002646.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	817/1635	204416604	1,13005	2203	4300	6503	SO:0001583	missense	5287	89	121412	51				g.chr1:204416604G>A	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.2449C>T	chr1.hg19:g.204416604G>A	ENSP00000356155:p.Arg817Cys	1					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	p.R817C	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	16	3005	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.2449C>T	CCDS1446.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.37	3.373570	0.61624	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64260	-0.09;-0.08	5.08	4.16	0.48862	5.08	4.16	0.48862	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.60130	0.2245	L	0.54323	1.7	0.35802	D	0.823181	P;P	0.52463	0.953;0.62	P;B	0.47162	0.54;0.326	T	0.70029	-0.4984	10	0.59425	D	0.04	.	8.7611	0.34676	0.0:0.159:0.5768:0.2641	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	C	817	ENSP00000356155:R817C;ENSP00000400561:R817C	ENSP00000356155:R817C	R	-	1	0	0	PIK3C2B	202683227	202683227	0.992000	0.36948	0.838000	0.33150	0.807000	0.45602	1.313000	0.33585	1.263000	0.44181	0.462000	0.41574	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-12.174290	1	0.170000	NM_002646			35	34		338	321	0		1	0		0	0	55	0		1	9.501524e-01	0	0	0	50	0	35	338
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	C	T	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	ENST00000375105.3	-	2	238	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	60					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522										Multiple Myeloma(11;0.12)			C|||	17	0.00339457	0.0008	0.0	5008	,	,		19117	0.0		0.0119	False		,,,				2504	0.0041				Melanoma(60;742 1548 31762 39240)	ENST00000375105.3	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.912036	0.920000	0.990000																										0				3						c.(178-180)acG>acA		phospholipase A2, group IID		C		10,4396	15.5+/-35.6	0,10,2193	150.0	131.0	138.0		180	-10.7	0.1	1	dbSNP_134	138	89,8511	50.6+/-110.7	0,89,4211	no	coding-synonymous	PLA2G2D	NM_012400.2		0,99,6404	TT,TC,CC		1.0349,0.227,0.7612		60/146	20442831	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	26279	889	121412	61				g.chr1:20442831C>T	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.180G>A	chr1.hg19:g.20442831C>T		1	Multiple Myeloma(11;0.12)					p.T60T	NM_012400.2	NP_036532.1	0	1	1	1.828421	Q9UNK4	PA2GD_HUMAN		2	238	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	A8K2Z1|B1AEL9|Q9UK01	Silent	SNP	ENST00000375105.3	1	0	hg19	c.180G>A	CCDS203.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.473676	0	0.170000				33	32		272	259	1		1	0		0	0	103	0		1	8.473327e-01	0	0	0	30	0	33	272
PIK3C2B	5287	broad.mit.edu	37	1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T|PIK3C2B_ENST00000496872.1_5'Flank	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	545					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)			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)			GTTTCCACGGCGGCCAGGGCG	0.632																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				52						c.(1633-1635)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	53.0	54.0					1																	204426936		2203	4300	6503	SO:0001583	missense	5287	0	0					g.chr1:204426936C>T	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.1633G>A	chr1.hg19:g.204426936C>T	ENSP00000356155:p.Ala545Thr	1					PIK3C2B_ENST00000496872.1_5'Flank|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	p.A545T	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	10	2189	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.1633G>A	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222775	0.58668	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.60920	0.15;0.22	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.063724	0.64402	D	0.000011	T	0.51702	0.1690	L	0.57536	1.79	0.39730	D	0.97159	B;P	0.38827	0.27;0.649	B;B	0.34093	0.09;0.175	T	0.53208	-0.8471	10	0.18710	T	0.47	.	16.8798	0.86060	0.0:1.0:0.0:0.0	.	545;545	F5GWN5;O00750	.;P3C2B_HUMAN	T	545	ENSP00000356155:A545T;ENSP00000400561:A545T	ENSP00000356155:A545T	A	-	1	0	0	PIK3C2B	202693559	202693559	0.999000	0.42202	0.348000	0.25681	0.689000	0.40095	4.266000	0.58871	2.509000	0.84616	0.655000	0.94253	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_002646			37	37		209	206	1		1	1		0	0	39	0		1	9.588825e-01	0	11	0	21	0	37	209
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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.R451C(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)			TCAAACTTGCGGCAGTATTGG	0.562																																						ENST00000367187.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R451C(1)	lung(1)	52						c.(1351-1353)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							153.0	120.0	131.0					1																	204429749		2203	4300	6503	SO:0001583	missense	5287	3	121412	36				g.chr1:204429749G>A	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.1351C>T	chr1.hg19:g.204429749G>A	ENSP00000356155:p.Arg451Cys	1					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	p.R451C	NM_002646.3	NP_002637.3	1	3	4	2.193440	O00750	P3C2B_HUMAN	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)	7	1907	-	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)		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	1	1	hg19	c.1351C>T	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	0	PIK3C2B	202696372	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-2.679001	1	0.170000	NM_002646			59	57		263	259	1		1	1		0	0	54	0		1	9.273872e-01	0	3	0	19	0	59	263
LRRN2	10446	broad.mit.edu	37	1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	502	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCCCACCAGGTTCTGGGCC	0.652																																						ENST00000367175.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1504-1506)Ctg>Atg		leucine rich repeat neuronal 2							70.0	69.0	69.0					1																	204587617		2203	4300	6503	SO:0001583	missense	10446	0	0					g.chr1:204587617G>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1504C>A	chr1.hg19:g.204587617G>T	ENSP00000356143:p.Leu502Met	1					LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA	p.L502M			1	3	4	2.193440	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)	1	3716	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	1	1	hg19	c.1504C>A	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690355	0.29962	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.4	0.29515	5.37	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32120	N	0.006559	T	0.68559	0.3014	L	0.31752	0.955	0.35431	D	0.794037	D	0.89917	1.0	D	0.87578	0.998	T	0.72197	-0.4363	10	0.44086	T	0.13	.	9.3331	0.38034	0.3601:0.0:0.6399:0.0	.	502	O75325	LRRN2_HUMAN	M	502	ENSP00000356144:L502M;ENSP00000356145:L502M;ENSP00000356143:L502M	ENSP00000356143:L502M	L	-	1	2	2	LRRN2	202854240	202854240	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.626000	0.24492	0.615000	0.30124	0.591000	0.81541	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006338			76	75		238	236	1		1	1		0	0	43	0		1	9.511456e-01	0	2	0	16	0	76	238
LRRN2	10446	broad.mit.edu	37	1	204587774	204587774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.A449A|LRRN2_ENST00000367177.3_Silent_p.A449A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCC	0.642																																						ENST00000367175.1	1.000000	0.150000	1	2.500000e-01	0.390000	0.504335	0.390000	0.320000																										0				38						c.(1345-1347)gcC>gcT		leucine rich repeat neuronal 2							58.0	49.0	52.0					1																	204587774		2203	4300	6503	SO:0001819	synonymous_variant	10446	9	121404	37				g.chr1:204587774G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1347C>T	chr1.hg19:g.204587774G>A		1					LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000367176.3_Silent_p.A449A|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA	p.A449A			1	3	4	2.193440	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)	1	3559	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	0	1	hg19	c.1347C>T	CCDS1448.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.642038	1	0.170000	NM_006338			7	6		276	272	0		1	0		0	0	49	0		9.797039e-01	1.120974e-01	0	0	0	20	0	7	276
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617																																						ENST00000367175.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(229-231)Cag>Tag		leucine rich repeat neuronal 2							66.0	63.0	64.0					1																	204588892		2203	4300	6503	SO:0001587	stop_gained	10446	0	0					g.chr1:204588892G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.229C>T	chr1.hg19:g.204588892G>A	ENSP00000356143:p.Gln77*	1					LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000496057.1_5'Flank	p.Q77*			1	3	4	2.193440	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)	1	2441	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Nonsense_Mutation	SNP	ENST00000367175.1	0	1	hg19	c.229C>T	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	0	LRRN2	202855515	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_006338			64	63		355	351	1		1	0		0	0	80	0		1	9.525927e-01	0	1	0	29	0	64	355
NFASC	23114	broad.mit.edu	37	1	204938111	204938111	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000401399.1	+	9	1202		c.e9+1		NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site			O94856	NFASC_HUMAN	neurofascin						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)				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)			AGAGTAAAGGGTACGTTGTGT	0.522																																						ENST00000401399.1	1.000000	0.460000	1	6.600000e-01	0.940000	0.863150	0.940000	1.000000																										0				81						c.e9+1		neurofascin							63.0	67.0	66.0					1																	204938111		2203	4300	6503	SO:0001630	splice_region_variant	23114	0	0					g.chr1:204938111G>A	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.1003+1G>A	chr1.hg19:g.204938111G>A		1					NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site				1	3	4	2.193440	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	9	1202	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	1	1	hg19		CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945740	0.92593	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173	.	.	.	5.8	5.8	0.92144	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NFASC	203204734	203204734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.722000	0.98770	2.741000	0.93983	0.650000	0.86243	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-13.941530	1	0.170000	NM_001005388	Intron		10	10		148	140	0		1			0	0	33	0		9.963209e-01	0	0	0	0	0	0	10	148
NFASC	23114	broad.mit.edu	37	1	204948168	204948168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948168C>T	ENST00000401399.1	+	17	2148	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000367172.4_Missense_Mutation_p.P650L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L			O94856	NFASC_HUMAN	neurofascin	650	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)			ACCTGGATCCCCGGGGATGCT	0.642																																						ENST00000401399.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.995649	0.990000	1.000000																										0				81						c.(1948-1950)cCc>cTc		neurofascin							23.0	22.0	22.0					1																	204948168		2171	4260	6431	SO:0001583	missense	23114	0	0					g.chr1:204948168C>T	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.1949C>T	chr1.hg19:g.204948168C>T	ENSP00000385637:p.Pro650Leu	1					NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000367172.4_Missense_Mutation_p.P650L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L	p.P650L			1	3	4	2.193440	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	17	2148	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		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	0	1	hg19	c.1949C>T	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810159|4.810159	0.90707|0.90707	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.61510|0.61274	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|0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	5.31|5.31	5.31|5.31	0.75309|0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.79411|0.79411	0.4441|0.4441	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.997;0.995;0.999;0.999|.	T|T	0.82536|0.82536	-0.0408|-0.0408	10|8	0.87932|0.52906	D|T	0|0.07	.|.	18.583|18.583	0.91178|0.91178	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	650;661;646;635;650;646|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	L|S	650;635;650;650;650;650;661;646;646;650;629;650;646;646;637|620	ENSP00000356140:P650L;ENSP00000356139:P635L;ENSP00000356138:P650L;ENSP00000342128:P650L;ENSP00000344786:P650L;ENSP00000343509:P650L;ENSP00000438614:P646L;ENSP00000353154:P646L;ENSP00000356137:P650L;ENSP00000385676:P629L;ENSP00000385637:P650L;ENSP00000384061:P646L;ENSP00000425908:P646L;ENSP00000415031:P637L|ENSP00000356141:P620S	ENSP00000295776:P661L|ENSP00000356141:P620S	P|P	+|+	2|1	0|0	0|0	NFASC|NFASC	203214791|203214791	203214791|203214791	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.576000|0.576000	0.36127|0.36127	7.631000|7.631000	0.83237|0.83237	2.476000|2.476000	0.83614|0.83614	0.655000|0.655000	0.94253|0.94253	CCC|CCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-11.395380	1	0.170000	NM_001005388			4	4		14	14	1		1	0		0	0	9	0		8.982976e-01	8.686636e-01	0	0	0	16	0	4	14
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000401399.1	+	18	2245	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.P678P(3)|p.P682P(3)		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)			CCAAGTACCCCGGCAGCGTTA	0.572																																						ENST00000401399.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										6	Substitution - coding silent(6)	p.P678P(3)|p.P682P(3)	lung(4)|endometrium(2)	81						c.(2044-2046)ccC>ccT		neurofascin							105.0	103.0	103.0					1																	204948557		2203	4300	6503	SO:0001819	synonymous_variant	23114	2	121412	37				g.chr1:204948557C>T	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.2046C>T	chr1.hg19:g.204948557C>T		1					NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P	p.P682P			1	3	4	2.193440	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	18	2245	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	1	1	hg19	c.2046C>T	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643289	0.03531	.	.	ENSG00000163531	ENST00000367173	T	0.60040	0.22	5.43	0.461	0.16689	5.43	0.461	0.16689	.	0.382752	0.22265	N	0.062346	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	7	0.87932	D	0	.	0.7637	0.01011	0.4593:0.1208:0.2102:0.2096	.	.	.	.	L	652	ENSP00000356141:P652L	ENSP00000356141:P652L	P	+	2	0	0	NFASC	203215180	203215180	0.000000	0.05858	0.984000	0.44739	0.013000	0.08279	-2.110000	0.01334	-0.168000	0.10853	-1.193000	0.01689	CCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-2.564015	1	0.170000	NM_001005388			141	139		604	588	1		1	0		0	0	135	0		1	7.719697e-01	0	0	0	14	0	141	604
NFASC	23114	broad.mit.edu	37	1	204985538	204985538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000401399.1	+	29	3793	c.3594C>T	c.(3592-3594)ggC>ggT	p.G1198G	NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000339876.6_Silent_p.G1198G			O94856	NFASC_HUMAN	neurofascin	1305	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)			GCGAGGGTGGCGAGGGTCAGT	0.572																																						ENST00000401399.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.998039	0.990000	1.000000																										0				81						c.(3592-3594)ggC>ggT		neurofascin							200.0	180.0	186.0					1																	204985538		2203	4300	6503	SO:0001819	synonymous_variant	23114	2	121412	34				g.chr1:204985538C>T	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.3594C>T	chr1.hg19:g.204985538C>T		1					NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000339876.6_Silent_p.G1198G	p.G1198G			1	3	4	2.193440	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	29	3793	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	1	1	hg19	c.3594C>T	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120606	0.20877	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-2.51	0.06365	5.34	-2.51	0.06365	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	.	4.3579	0.11187	0.1509:0.3015:0.4082:0.1395	.	.	.	.	V	999;256	.	.	A	+	2	0	0	NFASC	203252161	203252161	0.000000	0.05858	0.967000	0.41034	0.968000	0.65278	-2.994000	0.00656	-0.231000	0.09825	-0.344000	0.07964	GCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	1		2	2	2	0		0	0	117		117	114	1	2.060000	-3.075755	1	0.170000	NM_001005388			69	68		674	660	0		1	0		0	0	117	0		1	7.644449e-01	0	0	0	29	0	69	674
CNTN2	6900	broad.mit.edu	37	1	205027766	205027766	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	154	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)			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)			TGATGTTGCCCTGTAACCCAC	0.597																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(460-462)ccC>ccA		contactin 2 (axonal)							44.0	44.0	44.0					1																	205027766		2203	4300	6503	SO:0001819	synonymous_variant	6900	0	0					g.chr1:205027766C>A	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.462C>A	chr1.hg19:g.205027766C>A		1						p.P154P	NM_005076.3	NP_005067.1	1	3	4	2.193440	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	5	746	+	all_cancers(21;0.144)|Breast(84;0.0437)		P78432|Q5T054	Silent	SNP	ENST00000331830.4	1	1	hg19	c.462C>A	CCDS1449.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_005076			39	38		144	142	1		1			0	0	29	0		1	0	0	0	0	0	0	39	144
CNTN2	6900	broad.mit.edu	37	1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	544	Ig-like C2-type 6.				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)			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)			ACCTTCACCTGGACCCTGGAC	0.582																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1630-1632)tGg>tAg		contactin 2 (axonal)							188.0	165.0	173.0					1																	205034326		2203	4300	6503	SO:0001587	stop_gained	6900	0	0					g.chr1:205034326G>A	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.1631G>A	chr1.hg19:g.205034326G>A	ENSP00000330633:p.Trp544*	1					AL583832.1_ENST00000515887.1_RNA	p.W544*	NM_005076.3	NP_005067.1	1	3	4	2.193440	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	13	1915	+	all_cancers(21;0.144)|Breast(84;0.0437)		P78432|Q5T054	Nonsense_Mutation	SNP	ENST00000331830.4	0	1	hg19	c.1631G>A	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.923856	0.99297	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4451	0.94843	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000330633:W544X	W	+	2	0	0	CNTN2	203300949	203300949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	TGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	1		2	2	2	0		0	0	175		175	171	1	2.060000	-9.511623	1	0.170000	NM_005076			204	202		531	512	0		1			0	0	175	0		1	0	0	0	0	0	0	204	531
CNTN2	6900	broad.mit.edu	37	1	205039089	205039089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			GCAACGAGAGCGTCCGGCCCT	0.647																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2329-2331)agC>agT		contactin 2 (axonal)							63.0	67.0	66.0					1																	205039089		2203	4300	6503	SO:0001819	synonymous_variant	6900	0	0					g.chr1:205039089C>T	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.2331C>T	chr1.hg19:g.205039089C>T		1						p.S777S	NM_005076.3	NP_005067.1	1	3	4	2.193440	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	18	2615	+	all_cancers(21;0.144)|Breast(84;0.0437)		P78432|Q5T054	Silent	SNP	ENST00000331830.4	1	1	hg19	c.2331C>T	CCDS1449.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-20.000000	1	0.170000	NM_005076			188	186		549	542	1		1			0	0	115	0		1	0	0	0	0	0	0	188	549
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522																																						ENST00000375099.3	1.000000	0.670000	9.700000e-01	7.800000e-01	0.890000	0.884884	0.890000	0.990000																										0				14						c.(514-516)agG>agT		UBX domain protein 10							73.0	76.0	75.0					1																	20517570		2203	4300	6503	SO:0001583	missense	127733	0	0					g.chr1:20517570G>T	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.516G>T	chr1.hg19:g.20517570G>T	ENSP00000364240:p.Arg172Ser	1						p.R172S	NM_152376.3	NP_689589.1	0	1	1	1.828421	Q96LJ8	UBX10_HUMAN		2	600	+			Q5R386	Missense_Mutation	SNP	ENST00000375099.3	1	1	hg19	c.516G>T	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168388	0.09339	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	2.67	0.31697	4.66	2.67	0.31697	.	0.973186	0.08458	N	0.942867	T	0.40119	0.1104	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27365	-1.0076	9	0.18276	T	0.48	-4.3621	10.3827	0.44121	0.0872:0.1469:0.766:0.0	.	172	Q96LJ8	UBX10_HUMAN	S	172	.	ENSP00000364240:R172S	R	+	3	2	2	UBXN10	20390157	20390157	0.867000	0.29959	0.099000	0.21106	0.066000	0.16364	2.421000	0.44688	1.168000	0.42723	0.591000	0.81541	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_152376			31	31		289	282	1		1	1		0	0	77	0		1	9.806764e-01	0	13	0	48	0	31	289
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	C	T	rs374945965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176					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.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572																																						ENST00000367162.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T176T(1)	lung(1)	14						c.(526-528)acG>acA		dual serine/threonine and tyrosine protein kinase		C	,	0,4406		0,0,2203	88.0	66.0	74.0		528,528	-7.5	0.9	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	176/930,176/885	205156672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25778	5	121412	40				g.chr1:205156672C>T	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.528G>A	chr1.hg19:g.205156672C>T		1					DSTYK_ENST00000367160.4_Silent_p.T176T|DSTYK_ENST00000367161.3_Silent_p.T176T	p.T176T	NM_015375.2	NP_056190.1	1	3	4	2.193440	Q6XUX3	DUSTY_HUMAN		2	558	-			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	1	1	hg19	c.528G>A	CCDS1451.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-4.891701	1	0.170000	NM_015375			66	65		201	198	1		1	1		0	0	53	0		1	9.854605e-01	0	3	0	20	0	66	201
TMCC2	9911	broad.mit.edu	37	1	205210944	205210944	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736																																						ENST00000358024.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(517-519)ggC>ggT		transmembrane and coiled-coil domain family 2							6.0	8.0	8.0					1																	205210944		2018	3993	6011	SO:0001819	synonymous_variant	9911	4	117836	31				g.chr1:205210944C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.519C>T	chr1.hg19:g.205210944C>T		1					TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	p.G173G	NM_014858.3	NP_055673.2	1	3	4	2.193440	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)	2	908	+	Breast(84;0.0871)		A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	1	1	hg19	c.519C>T	CCDS30984.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000	NM_014858			28	27		89	85	0		1			0	0	19	0		1	0	0	0	0	0	0	28	89
TMCC2	9911	broad.mit.edu	37	1	205238374	205238374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.A270A|TMCC2_ENST00000329800.7_Silent_p.A108A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	348						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597																																						ENST00000358024.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1042-1044)gcC>gcT		transmembrane and coiled-coil domain family 2							44.0	37.0	40.0					1																	205238374		2203	4300	6503	SO:0001819	synonymous_variant	9911	0	0					g.chr1:205238374C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1044C>T	chr1.hg19:g.205238374C>T		1					TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.A270A	p.A348A	NM_014858.3	NP_055673.2	1	3	4	2.193440	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)	3	1433	+	Breast(84;0.0871)		A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	1	1	hg19	c.1044C>T	CCDS30984.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_014858			73	73		213	210	1		1	0		0	0	54	0		1	8.486628e-01	0	1	0	11	0	73	213
NUAK2	81788	broad.mit.edu	37	1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A	rs561905076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.R569W(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16143	0.001		0.0	False		,,,				2504	0.0					ENST00000367157.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R569W(1)	large_intestine(1)	23						c.(1705-1707)Cgg>Tgg		NUAK family, SNF1-like kinase, 2							26.0	32.0	30.0					1																	205272760		2200	4293	6493	SO:0001583	missense	81788	7	121284	39				g.chr1:205272760G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1705C>T	chr1.hg19:g.205272760G>A	ENSP00000356125:p.Arg569Trp	1						p.R569W	NM_030952.1	NP_112214.1	1	3	4	2.193440			BRCA - Breast invasive adenocarcinoma(75;0.117)	7	1831	-	Breast(84;0.186)			Missense_Mutation	SNP	ENST00000367157.3	1	1	hg19	c.1705C>T	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304897	0.60305	.	.	ENSG00000163545	ENST00000367157	D	0.85773	-2.03	4.82	1.6	0.23607	4.82	1.6	0.23607	.	0.000000	0.40908	D	0.000994	D	0.90549	0.7038	M	0.72894	2.215	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	D	0.89683	0.3892	10	0.87932	D	0	.	12.9973	0.58654	0.0:0.0:0.5903:0.4097	.	569	Q9H093	NUAK2_HUMAN	W	569	ENSP00000356125:R569W	ENSP00000356125:R569W	R	-	1	2	2	NUAK2	203539383	203539383	1.000000	0.71417	0.908000	0.35775	0.880000	0.50808	2.097000	0.41748	0.032000	0.15435	0.393000	0.25936	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.383208	1	0.170000	NM_030952			78	76		334	327	1		1	0		0	0	70	0		1	8.043004e-01	0	1	0	14	0	78	334
NUAK2	81788	broad.mit.edu	37	1	205275355	205275355	+	Silent	SNP	C	C	T	rs377400744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537																																						ENST00000367157.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(649-651)tcG>tcA		NUAK family, SNF1-like kinase, 2		C		0,4406		0,0,2203	97.0	96.0	97.0		651	-11.5	0.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK2	NM_030952.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		217/629	205275355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81788	10	121412	41				g.chr1:205275355C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.651G>A	chr1.hg19:g.205275355C>T		1						p.S217S	NM_030952.1	NP_112214.1	1	3	4	2.193440			BRCA - Breast invasive adenocarcinoma(75;0.117)	5	777	-	Breast(84;0.186)			Silent	SNP	ENST00000367157.3	1	1	hg19	c.651G>A	CCDS1453.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.526409	1	0.170000	NM_030952			88	85		367	359	1		1	0		0	0	83	0		1	9.823071e-01	0	1	0	28	0	88	367
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	rs202228818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597																																						ENST00000367156.3	1.000000	0.350000	1	4.300000e-01	0.530000	0.622792	0.530000	0.500000																										0				14						c.(988-990)Gcc>Acc		kelch domain containing 8A							199.0	180.0	186.0					1																	205306592		2203	4300	6503	SO:0001583	missense	55220	24	121412	49				g.chr1:205306592C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.988G>A	chr1.hg19:g.205306592C>T	ENSP00000356124:p.Ala330Thr	1					KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T	p.A330T	NM_001271863.1	NP_001258792.1	1	3	4	2.193440	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)	9	1804	-	Breast(84;0.23)		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	1	1	hg19	c.988G>A	CCDS30985.1	0	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	0	KLHDC8A	203573215	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	0	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-3.479899	1	0.170000	NM_018203			31	31		775	763	0		1	0		0	0	115	0		1	2.159809e-02	0	0	0	6	0	31	775
KLHDC8A	55220	broad.mit.edu	37	1	205312649	205312649	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000367155.3_Silent_p.E28E|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672																																						ENST00000367156.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(82-84)gaG>gaA		kelch domain containing 8A							21.0	24.0	23.0					1																	205312649		2202	4299	6501	SO:0001819	synonymous_variant	55220	0	0					g.chr1:205312649C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.84G>A	chr1.hg19:g.205312649C>T		1					KLHDC8A_ENST00000367155.3_Silent_p.E28E|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	p.E28E	NM_001271863.1	NP_001258792.1	1	3	4	2.193440	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)	5	900	-	Breast(84;0.23)		B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	1	1	hg19	c.84G>A	CCDS30985.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_018203			60	59		156	154	0		1	0		0	0	36	0		1	1.922824e-01	0	1	0	2	0	60	156
LEMD1	93273	broad.mit.edu	37	1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	144						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478																																						ENST00000367153.4	1.000000	0.870000	1	9.800000e-01	0.990000	0.988881	0.990000	1.000000																										0				3						c.(430-432)aTc>aCc		LEM domain containing 1							328.0	280.0	296.0					1																	205350901		2203	4300	6503	SO:0001583	missense	93273	0	0					g.chr1:205350901A>G		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.431T>C	chr1.hg19:g.205350901A>G	ENSP00000356121:p.Ile144Thr	1					LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P	p.I144T	NM_001199050.1	NP_001185979.1	1	3	4	2.193440	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)	6	533	-	Breast(84;0.247)		Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	1	1	hg19	c.431T>C	CCDS55679.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.321|8.321	0.824374|0.824374	0.16678|0.16678	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151|ENST00000367154;ENST00000391936;ENST00000367149	T;T;T|T;T;T	0.46819|0.55930	0.86;0.89;0.86|0.86;0.86;0.49	4.52|4.52	-9.04|-9.04	0.00734|0.00734	4.52|4.52	-9.04|-9.04	0.00734|0.00734	.|.	5.603240|.	0.00397|.	N|.	0.000042|.	T|T	0.32285|0.32285	0.0824|0.0824	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.02656	0.001;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.0|0.0	T|T	0.34229|0.34229	-0.9837|-0.9837	9|8	0.59425|0.87932	D|D	0.04|0	-43.6463|-43.6463	4.6566|4.6566	0.12620|0.12620	0.5749:0.1058:0.2172:0.1021|0.5749:0.1058:0.2172:0.1021	.|.	103;144|97	Q68G75-3;Q68G75|Q68G75-5	.;LEMD1_HUMAN|.	T|P	103;144;103|97;97;56	ENSP00000356120:I103T;ENSP00000356121:I144T;ENSP00000356119:I103T|ENSP00000356122:S97P;ENSP00000375801:S97P;ENSP00000356117:S56P	ENSP00000356119:I103T|ENSP00000356117:S56P	I|S	-|-	2|1	0|0	0|0	LEMD1|LEMD1	203617524|203617524	203617524|203617524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.482000|-1.482000	0.02320|0.02320	-2.209000|-2.209000	0.00739|0.00739	-0.934000|-0.934000	0.02701|0.02701	ATC|TCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	1	0	1		2	2	2	0		0	0	187		187	187	1	2.060000	-19.037870	1	0.170000	NM_001001552			86	86		958	943	1		1	1		0	0	187	0		1	9.790180e-01	0	9	0	60	0	86	958
CDK18	5129	broad.mit.edu	37	1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	28							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(88-90)ttC>ttA		cyclin-dependent kinase 18							68.0	72.0	71.0					1																	205492385		2203	4300	6503	SO:0001583	missense	5129	0	0					g.chr1:205492385C>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.90C>A	chr1.hg19:g.205492385C>A	ENSP00000353176:p.Phe30Leu	1					CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L	p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	1	3	4	2.193440	Q07002	CDK18_HUMAN		2	391	+			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	1	1	hg19	c.90C>A	CCDS44300.1	1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592578	0.28357	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70516	-0.29;-0.49;-0.29;1.97;1.65	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16307	0.4	0.54753	D	0.999988	B;B	0.13145	0.006;0.007	B;B	0.15870	0.014;0.013	T	0.48917	-0.8992	10	0.06625	T	0.88	-39.0784	15.664	0.77213	0.0:1.0:0.0:0.0	.	30;30	Q07002-3;Q07002-2	.;.	L	30	ENSP00000399082:F30L;ENSP00000423665:F30L;ENSP00000353176:F30L;ENSP00000397831:F30L;ENSP00000391324:F30L	ENSP00000353176:F30L	F	+	3	2	2	CDK18	203759008	203759008	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	2.510000	0.45468	2.728000	0.93425	0.655000	0.94253	TTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_002596			139	138		340	333	1		1	1		0	0	79	0		1	9.986064e-01	0	7	0	20	0	139	340
MFSD4	148808	broad.mit.edu	37	1	205553121	205553121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205553121G>T	ENST00000367147.4	+	4	822	c.729G>T	c.(727-729)aaG>aaT	p.K243N	MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N|MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGTCCAAGGAGCGGCTGC	0.637																																						ENST00000367147.4	1.000000	0.110000	1	1.700000e-01	0.270000	0.421518	0.270000	0.230000																										0				16						c.(727-729)aaG>aaT		major facilitator superfamily domain containing 4							62.0	60.0	61.0					1																	205553121		2203	4300	6503	SO:0001583	missense	148808	0	0					g.chr1:205553121G>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.729G>T	chr1.hg19:g.205553121G>T	ENSP00000356115:p.Lys243Asn	1					MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N|MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N	p.K243N	NM_181644.4	NP_857595.3	1	3	4	2.193440	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)	4	822	+	Breast(84;0.07)		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	0	1	hg19	c.729G>T	CCDS1455.1	0	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659883	0.47572	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80653	1.68;1.69;-1.4	5.57	4.6	0.57074	5.57	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);	0.046302	0.85682	D	0.000000	D	0.85133	0.5627	L	0.58101	1.795	0.46774	D	0.999195	D;B;D	0.89917	1.0;0.07;0.97	D;B;P	0.87578	0.998;0.023;0.725	T	0.82382	-0.0485	10	0.29301	T	0.29	-11.9022	8.5804	0.33626	0.1292:0.0:0.8708:0.0	.	188;156;243	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	243;243;156	ENSP00000356115:K243N;ENSP00000445329:K243N;ENSP00000440183:K156N	ENSP00000356115:K243N	K	+	3	2	2	MFSD4	203819744	203819744	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.507000	0.45442	1.199000	0.43173	0.561000	0.74099	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	0	0	0		2	2	2	0		0	0	93		93	91	1	2.060000	-4.293341	1	0.170000	NM_181644			8	8		446	434	0		1	1		0	0	93	0		9.882878e-01	9.069813e-02	0	2	0	23	0	8	446
SLC45A3	85414	broad.mit.edu	37	1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	434					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		1	1q32	1q32	85414	T	"""solute carrier family 45, member 3"""				E	E	ETV1, ETV5, ELK4, ERG		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				21						c.(1300-1302)gGc>gAc		solute carrier family 45, member 3							58.0	54.0	55.0					1																	205628723		2203	4300	6503	SO:0001583	missense	85414	0	0					g.chr1:205628723C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1301G>A	chr1.hg19:g.205628723C>T	ENSP00000356113:p.Gly434Asp	1		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.G434D	NM_033102.2	NP_149093.1	1	3	4	2.193440	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)	5	1596	-	Breast(84;0.07)		A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	1	1	hg19	c.1301G>A	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616403	0.46736	.	.	ENSG00000158715	ENST00000367145	T	0.43688	0.94	5.16	4.18	0.49190	5.16	4.18	0.49190	.	0.216749	0.39020	N	0.001486	T	0.29524	0.0736	L	0.36672	1.1	0.40475	D	0.980389	B	0.10296	0.003	B	0.08055	0.003	T	0.13656	-1.0501	10	0.37606	T	0.19	-23.9536	7.154	0.25626	0.1717:0.7401:0.0:0.0882	.	434	Q96JT2	S45A3_HUMAN	D	434	ENSP00000356113:G434D	ENSP00000356113:G434D	G	-	2	0	0	SLC45A3	203895346	203895346	0.395000	0.25254	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.401000	0.81631	0.491000	0.48974	GGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_033102			43	43		173	172	1		1	1		0	0	48	0		1	9.995329e-01	0	26	0	23	0	43	173
RAB29	8934	broad.mit.edu	37	1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		176					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000																										0				10						c.(526-528)Aat>Cat									101.0	96.0	98.0					1																	205739556		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:205739556T>G																												ENST00000367139.3:c.526A>C	chr1.hg19:g.205739556T>G	ENSP00000356107:p.Asn176His	1					RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H	p.N176H	NM_003929.2	NP_003920.1	1	3	4	2.193440	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)	6	829	-	Breast(84;0.0799)		B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	1	1	hg19	c.526A>C	CCDS1459.1	1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280869	0.40394	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80123	-1.34;-1.34;-0.66;-1.34;-1.34	5.39	4.23	0.50019	5.39	4.23	0.50019	.	0.310723	0.34959	N	0.003548	T	0.67961	0.2949	L	0.49256	1.55	0.30130	N	0.804901	P;B	0.46277	0.875;0.008	B;B	0.31751	0.135;0.01	T	0.68800	-0.5313	10	0.48119	T	0.1	-10.795	7.2088	0.25921	0.1446:0.0:0.1509:0.7045	.	152;176	B4E1K3;O14966	.;RAB7L_HUMAN	H	176;176;104;152;176	ENSP00000356107:N176H;ENSP00000235932:N176H;ENSP00000416613:N104H;ENSP00000389899:N152H;ENSP00000402910:N176H	ENSP00000235932:N176H	N	-	1	0	0	RAB7L1	204006179	204006179	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	2.339000	0.43965	0.931000	0.37242	0.533000	0.62120	AAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				35	34		247	243	1		1	1		0	0	53	0		1	9.999653e-01	0	15	0	98	0	35	247
SLC41A1	254428	broad.mit.edu	37	1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	100					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602																																						ENST00000367137.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(298-300)Ctg>Atg		solute carrier family 41 (magnesium transporter), member 1							137.0	126.0	130.0					1																	205779272		2203	4300	6503	SO:0001583	missense	254428	0	0					g.chr1:205779272G>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.298C>A	chr1.hg19:g.205779272G>T	ENSP00000356105:p.Leu100Met	1						p.L100M	NM_173854.4	NP_776253.3	1	3	4	2.193440	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)	2	1312	-	Breast(84;0.0799)		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	1	1	hg19	c.298C>A	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003766	0.74932	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.64	4.73	0.59995	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.56769	1.78	0.58432	D	0.999997	D	0.61697	0.99	P	0.61800	0.894	T	0.43988	-0.9357	10	0.44086	T	0.13	-7.8851	14.6033	0.68456	0.0714:0.0:0.9286:0.0	.	100	Q8IVJ1	S41A1_HUMAN	M	100	ENSP00000356105:L100M	ENSP00000356105:L100M	L	-	1	2	2	SLC41A1	204045895	204045895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.473000	0.66774	1.379000	0.46325	0.555000	0.69702	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-5.470076	1	0.170000				134	131		416	408	1		1	1		0	0	99	0		1	9.999999e-01	0	15	0	61	0	134	416
SLC41A1	254428	broad.mit.edu	37	1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367137.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(19-21)cCg>cTg		solute carrier family 41 (magnesium transporter), member 1							78.0	85.0	83.0					1																	205779550		2203	4300	6503	SO:0001583	missense	254428	1	121412	36				g.chr1:205779550G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.20C>T	chr1.hg19:g.205779550G>A	ENSP00000356105:p.Pro7Leu	1		OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154		p.P7L	NM_173854.4	NP_776253.3	1	3	4	2.193440	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)	2	1034	-	Breast(84;0.0799)		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	1	1	hg19	c.20C>T	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181026	0.38511	.	.	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.64	3.78	0.43462	5.64	3.78	0.43462	.	0.360313	0.28665	N	0.014554	T	0.21921	0.0528	L	0.39898	1.24	0.34108	D	0.662706	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.39692	T	0.17	-8.2833	5.6147	0.17423	0.1614:0.0:0.645:0.1936	.	7	Q8IVJ1	S41A1_HUMAN	L	7	ENSP00000356105:P7L	ENSP00000356105:P7L	P	-	2	0	0	SLC41A1	204046173	204046173	0.930000	0.31532	0.805000	0.32314	0.851000	0.48451	1.331000	0.33793	0.751000	0.32900	-0.266000	0.10368	CCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.917337	1	0.170000				123	122		439	430	1		1	1		0	0	94	0		1	9.999989e-01	0	17	0	55	0	123	439
AVPR1B	553	broad.mit.edu	37	1	206225109	206225109	+	Silent	SNP	C	C	T	rs537657375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	223					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16213	0.0		0.0	False		,,,				2504	0.0					ENST00000367126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(667-669)tgC>tgT		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						51.0	53.0	52.0					1																	206225109		2203	4299	6502	SO:0001819	synonymous_variant	553	0	0					g.chr1:206225109C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.669C>T	chr1.hg19:g.206225109C>T		1					RP11-38J22.3_ENST00000425896.1_RNA	p.C223C	NM_000707.3	NP_000698.1	1	3	4	2.193440	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)	1	1134	+			B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	1	1	hg19	c.669C>T	CCDS30994.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-20.000000	1	0.170000	NM_000707			98	98		426	416	0		1	0		0	0	90	0		1	0	0	0	0	1	0	98	426
CTSE	1510	broad.mit.edu	37	1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A	rs377729989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000358184.2	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	106					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582																																						ENST00000358184.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(316-318)tCt>tAt		cathepsin E							94.0	83.0	87.0					1																	206319192		2203	4300	6503	SO:0001583	missense	1510	0	0					g.chr1:206319192C>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.317C>A	chr1.hg19:g.206319192C>A	ENSP00000350911:p.Ser106Tyr	1					CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y	p.S106Y	NM_001910.3	NP_001901.1	1	3	4	2.193440	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)	3	435	+			Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	1	1	hg19	c.317C>A	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289747	0.80914	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.62788	-0.0;-0.0;0.06;0.05	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85062	0.5611	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.993	D	0.89303	0.3627	10	0.87932	D	0	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	31;106;106	B4DNU8;P14091-2;P14091-1	.;.;.	Y	106;106;106;31	ENSP00000350911:S106Y;ENSP00000354337:S106Y;ENSP00000353350:S106Y;ENSP00000394607:S31Y	ENSP00000350911:S106Y	S	+	2	0	0	CTSE	204485815	204485815	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.051000	0.76627	2.655000	0.90218	0.655000	0.94253	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_001910			107	102		253	247	1		1	1		0	0	57	0		1	1	0	1023	0	1014	0	107	253
CTSE	1510	broad.mit.edu	37	1	206331211	206331211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTGCCTGCCTGTCTGACAG	0.483																																						ENST00000360218.2	1.000000	0.190000	1	2.700000e-01	0.390000	0.507399	0.390000	0.340000																										0				16						c.(1075-1077)Ctg>Ttg		cathepsin E							107.0	112.0	111.0					1																	206331211		2203	4300	6503	SO:0001819	synonymous_variant	1510	0	0					g.chr1:206331211C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.1075C>T	chr1.hg19:g.206331211C>T		1					CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR	p.L359L	NM_148964.2	NP_683865.1	1	3	4	2.193440	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)	8	1179	+			Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000360218.2	1	1	hg19	c.1075C>T	CCDS1461.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-2.981433	1	0.170000	NM_001910			12	12		446	432	0		1	1		0	0	70	0		9.989600e-01	1	0	94	0	2407	0	12	446
SRGAP2	23380	broad.mit.edu	37	1	206632020	206632020	+	Silent	SNP	C	C	T	rs533088717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	853					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597																																						ENST00000414007.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				4						c.(2137-2139)gaC>gaT		SLIT-ROBO Rho GTPase activating protein 2							27.0	29.0	28.0					1																	206632020		1980	4165	6145	SO:0001819	synonymous_variant	23380	0	0					g.chr1:206632020C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2139C>T	chr1.hg19:g.206632020C>T		1					SRGAP2_ENST00000419187.2_Silent_p.D171D	p.D713D			1	3	4	2.193440	O75044	SRGP2_HUMAN		18	2139	+	Breast(84;0.137)			Silent	SNP	ENST00000414007.1	1	1	hg19	c.2139C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.12|10.12	1.264395|1.264395	0.23136|0.23136	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	6.06|6.06	0.66|0.66	0.17868|0.17868	6.06|6.06	0.66|0.66	0.17868|0.17868	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31451	.|0.0797	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35798	.|-0.9774	.|3	.|.	.|.	.|.	.|.	4.5869|4.5869	0.12287|0.12287	0.1155:0.5353:0.2235:0.1256|0.1155:0.5353:0.2235:0.1256	.|.	.|.	.|.	.|.	X|I	767|149	.|.	.|.	Q|T	+|+	1|2	0|0	0|0	SRGAP2|SRGAP2	204698643|204698643	204698643|204698643	0.988000|0.988000	0.35896|0.35896	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.577000|0.577000	0.23758|0.23758	0.130000|0.130000	0.18549|0.18549	0.655000|0.655000	0.94253|0.94253	CAG|ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_015326			17	16		74	73	1		1	1		0	0	24	0		9.999776e-01	9.928572e-01	0	6	0	33	0	17	74
IKBKE	9641	broad.mit.edu	37	1	206647703	206647703	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000537984.1_5'UTR|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	39	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)			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)					CTGTGAAGGTCTTCAACACTA	0.582																																						ENST00000367120.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(115-117)gtC>gtA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							82.0	68.0	73.0					1																	206647703		2203	4300	6503	SO:0001819	synonymous_variant	9641	0	0					g.chr1:206647703C>A	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.117C>A	chr1.hg19:g.206647703C>A		1					IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000463979.1_3'UTR	p.V39V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	1	3	4	2.193440	Q14164	IKKE_HUMAN		4	490	+	Breast(84;0.137)		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	1	1	hg19	c.117C>A	CCDS30996.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000				60	60		287	282	1		1	1		0	0	67	0		1	9.889591e-01	0	10	0	26	0	60	287
IKBKE	9641	broad.mit.edu	37	1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	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	566	Interaction with DDX3X.				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)			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)					TCCTCCAGGGCTTGGCTACAA	0.542											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367120.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				32						c.(1696-1698)Ctt>Ttt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							129.0	112.0	118.0					1																	206664154		2203	4300	6503	SO:0001583	missense	9641	0	0					g.chr1:206664154C>T	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.1696C>T	chr1.hg19:g.206664154C>T	ENSP00000356087:p.Leu566Phe	1		OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	p.L566F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	1	3	4	2.193440	Q14164	IKKE_HUMAN		17	2069	+	Breast(84;0.137)		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	1	1	hg19	c.1696C>T	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160932	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.22945	1.93;1.93	5.61	4.6	0.57074	5.61	4.6	0.57074	.	0.114512	0.39544	N	0.001329	T	0.42810	0.1219	M	0.64997	1.995	0.37720	D	0.92488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.47459	-0.9116	10	0.72032	D	0.01	-0.7411	6.4145	0.21710	0.0:0.8484:0.0:0.1515	.	481;566	Q3B754;Q14164	.;IKKE_HUMAN	F	566;481	ENSP00000356087:L566F;ENSP00000444529:L481F	ENSP00000356087:L566F	L	+	1	0	0	IKBKE	204730777	204730777	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.776000	0.38594	2.656000	0.90262	0.655000	0.94253	CTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-19.649320	1	0.170000				48	47		333	326	1		1	1		0	0	63	0		1	8.542019e-01	0	2	0	24	0	48	333
DYRK3	8444	broad.mit.edu	37	1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367109.2	+	3	1171	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D315N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458																																					Melanoma(164;427 2622 26826 51707)	ENST00000367109.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1003-1005)Gat>Aat		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							90.0	95.0	93.0					1																	206821546		2203	4300	6503	SO:0001583	missense	8444	0	0					g.chr1:206821546G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1003G>A	chr1.hg19:g.206821546G>A	ENSP00000356076:p.Asp335Asn	1					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D315N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N	p.D335N	NM_003582.2	NP_003573.2	1	3	4	2.193440	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)	3	1171	+	Breast(84;0.183)		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	1	1	hg19	c.1003G>A	CCDS30999.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486637	0.84854	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.92965	-3.14;-3.14;-3.14	5.17	5.17	0.71159	5.17	5.17	0.71159	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	0.97480	0.9175	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98503	1.0615	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	335;315	O43781;O43781-2	DYRK3_HUMAN;.	N	335;315;315	ENSP00000356076:D335N;ENSP00000356075:D315N;ENSP00000356073:D315N	ENSP00000356073:D315N	D	+	1	0	0	DYRK3	204888169	204888169	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.017896	1	0.170000	NM_003582			90	90		526	519	1		1	1		0	0	94	0		1	9.951291e-01	0	8	0	41	0	90	526
FAIM3	9214	broad.mit.edu	37	1	207087198	207087198	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	ENST00000367091.3	-	2	422	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	93	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)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTCTGTCAGCTGTGTTACCT	0.527																																						ENST00000367091.3	1.000000	0.310000	1	3.900000e-01	0.510000	0.604024	0.510000	0.460000																										0				15						c.(277-279)caG>caT		Fas apoptotic inhibitory molecule 3							126.0	119.0	121.0					1																	207087198		2203	4300	6503	SO:0001583	missense	9214	0	0					g.chr1:207087198C>A	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.279G>T	chr1.hg19:g.207087198C>A	ENSP00000356058:p.Gln93His	1					FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H|FAIM3_ENST00000528654.1_Intron	p.Q93H	NM_005449.4	NP_005440.1	1	3	4	2.193440	O60667	FAIM3_HUMAN		2	422	-	Breast(84;0.201)		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	1	1	hg19	c.279G>T	CCDS1473.1	0	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558618	0.13436	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.28	-0.098	0.13630	5.28	-0.098	0.13630	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.381571	0.22609	N	0.057854	T	0.16171	0.0389	L	0.39326	1.205	0.09310	N	1	P	0.46142	0.873	P	0.45474	0.482	T	0.09997	-1.0649	10	0.51188	T	0.08	-5.8428	3.8053	0.08774	0.284:0.4736:0.0:0.2424	.	93	O60667	FAIM3_HUMAN	H	93;93;93;93;124	ENSP00000356058:Q93H;ENSP00000403356:Q93H;ENSP00000432936:Q93H;ENSP00000437331:Q93H;ENSP00000436316:Q124H	ENSP00000356058:Q93H	Q	-	3	2	2	FAIM3	205153821	205153821	0.008000	0.16893	0.002000	0.10522	0.076000	0.17211	-0.202000	0.09451	-0.009000	0.14296	-1.858000	0.00562	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	0	0	1		19	2	2	1		1	1	100		100	100	1	2.060000	-3.812423	1	0.170000	NM_005449			21	21		559	549	0		1	0		1	0	100	0		6.628306e-01	9.810028e-02	0	0	0	14	0	21	559
FAIM3	9214	broad.mit.edu	37	1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	29					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)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537																																						ENST00000367091.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(85-87)Ctg>Atg		Fas apoptotic inhibitory molecule 3							116.0	102.0	107.0					1																	207087392		2203	4300	6503	SO:0001583	missense	9214	0	0					g.chr1:207087392G>T	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.85C>A	chr1.hg19:g.207087392G>T	ENSP00000356058:p.Leu29Met	1					FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M|FAIM3_ENST00000528654.1_Intron	p.L29M	NM_005449.4	NP_005440.1	1	3	4	2.193440	O60667	FAIM3_HUMAN		2	228	-	Breast(84;0.201)		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	1	1	hg19	c.85C>A	CCDS1473.1	1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900391	0.17686	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.28	2.18	0.27775	5.28	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.370929	0.19644	N	0.109386	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.27400	-1.0075	10	0.33141	T	0.24	-5.8687	3.0783	0.06254	0.0978:0.1775:0.5413:0.1834	.	29	O60667	FAIM3_HUMAN	M	29;29;29;29;60	ENSP00000356058:L29M;ENSP00000403356:L29M;ENSP00000432936:L29M;ENSP00000437331:L29M;ENSP00000436316:L60M	ENSP00000356058:L29M	L	-	1	2	2	FAIM3	205154015	205154015	0.133000	0.22466	0.124000	0.21820	0.021000	0.10359	0.731000	0.26058	0.604000	0.29930	-0.122000	0.15005	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_005449			174	171		427	417	1		1	0		0	0	106	0		1	9.974973e-01	0	0	0	25	0	174	427
FCAMR	83953	broad.mit.edu	37	1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	512					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1669-1671)Ctc>Ttc		Fc receptor, IgA, IgM, high affinity							107.0	98.0	101.0					1																	207131926		692	1591	2283	SO:0001583	missense	83953	0	0					g.chr1:207131926G>A	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.1669C>T	chr1.hg19:g.207131926G>A	ENSP00000316491:p.Leu557Phe	1					FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR	p.L557F	NM_001170631.1	NP_001164102.1	1	3	4	2.193440	Q8WWV6	FCAMR_HUMAN		8	2143	-			Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	1	1	hg19	c.1669C>T	CCDS53468.1	1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349753	0.41599	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07327	3.2	4.73	-1.11	0.09840	4.73	-1.11	0.09840	.	0.717863	0.11432	N	0.564723	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	0.999999	P;B	0.36010	0.532;0.21	B;B	0.32342	0.144;0.088	T	0.33650	-0.9860	10	0.54805	T	0.06	-3.8209	1.4804	0.02435	0.1754:0.1378:0.4057:0.2811	.	532;512	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	557;515	ENSP00000316491:L557F	ENSP00000316491:L557F	L	-	1	0	0	FCAMR	205198549	205198549	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.637000	0.02015	-0.069000	0.12931	-0.314000	0.08810	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_032029			107	105		371	367	1		1			0	0	85	0		1	0	0	0	0	0	0	107	371
C1orf116	79098	broad.mit.edu	37	1	207195513	207195513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000359470.5	-	4	1845	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_ENST00000461135.2_Silent_p.S286S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	532						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)					CCGTGCCCAGGGAGGCCGGGC	0.592																																						ENST00000359470.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1594-1596)tcC>tcT		chromosome 1 open reading frame 116							29.0	32.0	31.0					1																	207195513		2203	4300	6503	SO:0001819	synonymous_variant	79098	0	0					g.chr1:207195513G>A		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.1596C>T	chr1.hg19:g.207195513G>A		1					C1orf116_ENST00000461135.2_Silent_p.S286S	p.S532S	NM_023938.5	NP_076427.2	1	3	4	2.193440	Q9BW04	SARG_HUMAN		4	1845	-	Prostate(682;0.19)		C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	1	1	hg19	c.1596C>T	CCDS1475.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_024115			51	48		134	133	1		1	1		0	0	25	0		1	1	0	195	0	123	0	51	134
C1orf116	79098	broad.mit.edu	37	1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000359470.5	-	3	508	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	87			P -> S (in dbSNP:rs706846).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)					TGGGTTATGGGCAGTGCTCGG	0.592																																						ENST00000359470.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(259-261)Ccc>Tcc		chromosome 1 open reading frame 116							93.0	99.0	97.0					1																	207198256		2203	4300	6503	SO:0001583	missense	79098	0	0					g.chr1:207198256G>A		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.259C>T	chr1.hg19:g.207198256G>A	ENSP00000352447:p.Pro87Ser	1					C1orf116_ENST00000461135.2_5'UTR	p.P87S	NM_023938.5	NP_076427.2	1	3	4	2.193440	Q9BW04	SARG_HUMAN		3	508	-	Prostate(682;0.19)		C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	1	1	hg19	c.259C>T	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798076	0.50208	.	.	ENSG00000182795	ENST00000359470	T	0.19532	2.14	4.39	3.44	0.39384	4.39	3.44	0.39384	.	0.353687	0.27495	N	0.019120	T	0.31451	0.0797	M	0.63843	1.955	0.38128	D	0.938075	D	0.53462	0.96	P	0.52217	0.693	T	0.17018	-1.0383	10	0.32370	T	0.25	-11.1548	12.6221	0.56610	0.0:0.0:0.8266:0.1734	rs706846;rs1770381;rs706846	87	Q9BW04	SARG_HUMAN	S	87	ENSP00000352447:P87S	ENSP00000352447:P87S	P	-	1	0	0	C1orf116	205264879	205264879	0.809000	0.29036	0.008000	0.14137	0.038000	0.13279	2.613000	0.46351	1.084000	0.41184	0.655000	0.94253	CCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_024115			103	99		331	320	1		1	1		0	0	86	0		1	1	0	111	0	88	0	103	331
YOD1	55432	broad.mit.edu	37	1	207222956	207222956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000315927.4	-	2	502	c.456C>T	c.(454-456)acC>acT	p.T152T	YOD1_ENST00000391927.1_Silent_p.T108T|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000367084.1_Silent_p.T108T	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	152	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493																																						ENST00000315927.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(454-456)acC>acT		YOD1 deubiquitinase							72.0	64.0	67.0					1																	207222956		2203	4300	6503	SO:0001819	synonymous_variant	55432	1	121412	27				g.chr1:207222956G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.456C>T	chr1.hg19:g.207222956G>A		1					YOD1_ENST00000391927.1_Silent_p.T108T|YOD1_ENST00000367084.1_Silent_p.T108T|PFKFB2_ENST00000411990.2_5'UTR	p.T152T	NM_018566.3	NP_061036.3	1	3	4	2.193440	Q5VVQ6	OTU1_HUMAN		2	502	-	Prostate(682;0.19)		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	1	1	hg19	c.456C>T	CCDS31002.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-4.507003	1	0.170000	NM_018566			61	57		188	182	1		1	1		0	0	47	0		1	9.989437e-01	0	18	0	17	0	61	188
PFKFB2	5208	broad.mit.edu	37	1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	183	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)			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)					GAAAGGAACAGAGAGAACGTG	0.463																																						ENST00000367080.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(547-549)aGa>aTa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							120.0	107.0	111.0					1																	207238421		2203	4300	6503	SO:0001583	missense	5208	0	0					g.chr1:207238421G>T		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.548G>T	chr1.hg19:g.207238421G>T	ENSP00000356047:p.Arg183Ile	1					PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I	p.R183I	NM_006212.2	NP_006203.2	1	3	4	2.193440	O60825	F262_HUMAN		8	672	+	Prostate(682;0.19)		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	1	1	hg19	c.548G>T	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267827	0.80469	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39576	0.002;0.679;0.005	B;B;B	0.40256	0.005;0.324;0.005	T	0.71899	-0.4453	9	0.56958	D	0.05	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	85;183;183	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	I	85;183;183;150	.	ENSP00000356046:R183I	R	+	2	0	0	PFKFB2	205305044	205305044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.160000	0.58164	2.777000	0.95525	0.591000	0.81541	AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.409141	1	0.170000				56	56		257	254	1		1	1		0	0	46	0		1	1	0	110	0	148	0	56	257
CD55	1604	broad.mit.edu	37	1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000367064.3	+	3	638	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413																																						ENST00000367064.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(379-381)tAt>tGt		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						110.0	107.0	108.0					1																	207497997		2203	4300	6503	SO:0001583	missense	1604	0	0					g.chr1:207497997A>G	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.380A>G	chr1.hg19:g.207497997A>G	ENSP00000356031:p.Tyr127Cys	1					CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron|CD55_ENST00000367067.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C	p.Y127C	NM_000574.3	NP_000565.1	1	3	4	2.193440	P08174	DAF_HUMAN		3	638	+			B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	1	1	hg19	c.380A>G	CCDS31006.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158731|2.158731	0.38119|0.38119	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.16|6.16	5.02|5.02	0.67125|0.67125	6.16|6.16	5.02|5.02	0.67125|0.67125	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.151856	.|0.45867	.|D	.|0.000328	D|D	0.87822|0.87822	0.6274|0.6274	H|H	0.95187|0.95187	3.635|3.635	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	.|0.999;1.0;0.999;1.0	D|D	0.89768|0.89768	0.3952|0.3952	5|10	.|0.87932	.|D	.|0	.|.	11.262|11.262	0.49089|0.49089	0.8634:0.0:0.0:0.1366|0.8634:0.0:0.0:0.1366	.|.	.|127;127;127;127	.|Q14UF4;P08174-2;P08174;B1AP13	.|.;.;DAF_HUMAN;.	V|C	137|127	.|ENSP00000356031:Y127C;ENSP00000356030:Y127C;ENSP00000316333:Y127C;ENSP00000356032:Y127C;ENSP00000375787:Y127C;ENSP00000356029:Y127C	.|ENSP00000316333:Y127C	M|Y	+|+	1|2	0|0	0|0	CD55|CD55	205564620|205564620	205564620|205564620	0.982000|0.982000	0.34865|0.34865	0.678000|0.678000	0.29963|0.29963	0.017000|0.017000	0.09413|0.09413	2.438000|2.438000	0.44837|0.44837	1.114000|1.114000	0.41781|0.41781	0.528000|0.528000	0.53228|0.53228	ATG|TAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_000574			95	92		357	352	1		1	1		0	0	71	0		1	1	0	326	0	934	0	95	357
CR2	1380	broad.mit.edu	37	1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367058.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367057.3_Missense_Mutation_p.L283F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	283	Sushi 5. {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)			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						TCCCCCTATTCTCAATGGAAG	0.428																																						ENST00000367058.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(847-849)Ctc>Ttc		complement component (3d/Epstein Barr virus) receptor 2							92.0	88.0	89.0					1																	207643069		2203	4300	6503	SO:0001583	missense	1380	0	0					g.chr1:207643069C>T	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.847C>T	chr1.hg19:g.207643069C>T	ENSP00000356025:p.Leu283Phe	1					CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367057.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000485707.1_3'UTR	p.L283F	NM_001877.4	NP_001868.2	1	3	4	2.193440	P20023	CR2_HUMAN		6	1036	+			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	1	1	hg19	c.847C>T	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287663	0.23478	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.05	1.86	0.25419	5.05	1.86	0.25419	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71995	0.3406	M	0.65975	2.015	0.09310	N	1	D;D;D	0.63046	0.992;0.98;0.991	P;D;P	0.64410	0.905;0.925;0.894	T	0.58358	-0.7650	9	0.54805	T	0.06	.	8.1256	0.30997	0.1649:0.4727:0.3624:0.0	.	283;283;283	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	283	ENSP00000356025:L283F;ENSP00000356024:L283F;ENSP00000356026:L283F;ENSP00000404222:L283F	ENSP00000356024:L283F	L	+	1	0	0	CR2	205709692	205709692	0.022000	0.18835	0.413000	0.26509	0.370000	0.29829	-0.007000	0.12810	0.780000	0.33566	-0.321000	0.08615	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_001877			75	73		407	396	1		1	0		0	0	90	0		1	2.472516e-02	0	0	0	2	0	75	407
CR2	1380	broad.mit.edu	37	1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367058.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000367059.3_Missense_Mutation_p.K386R|CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367057.3_Missense_Mutation_p.K386R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	386	Sushi 6. {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)			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						TTCACCTTGAAGGGCAGCAAG	0.493																																						ENST00000367058.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1156-1158)aAg>aGg		complement component (3d/Epstein Barr virus) receptor 2							101.0	90.0	93.0					1																	207643379		2203	4300	6503	SO:0001583	missense	1380	0	0					g.chr1:207643379A>G	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.1157A>G	chr1.hg19:g.207643379A>G	ENSP00000356025:p.Lys386Arg	1					CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367057.3_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R	p.K386R	NM_001877.4	NP_001868.2	1	3	4	2.193440	P20023	CR2_HUMAN		6	1346	+			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	1	1	hg19	c.1157A>G	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051888	0.55218	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.09	5.09	0.68999	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	L	0.33339	1.005	0.44359	D	0.997251	P;P;B	0.45634	0.863;0.522;0.296	P;B;B	0.45712	0.491;0.38;0.259	T	0.45775	-0.9238	9	0.11794	T	0.64	.	11.8312	0.52297	1.0:0.0:0.0:0.0	.	386;386;386	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	386	ENSP00000356025:K386R;ENSP00000356024:K386R;ENSP00000356026:K386R;ENSP00000404222:K386R	ENSP00000356024:K386R	K	+	2	0	0	CR2	205710002	205710002	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	1.476000	0.35420	2.225000	0.72522	0.459000	0.35465	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_001877			81	80		242	239	1		1	0		0	0	59	0		1	0	0	0	0	1	0	81	242
CR2	1380	broad.mit.edu	37	1	207648341	207648341	+	Silent	SNP	C	C	T	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367058.3	+	13	2508	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	CR2_ENST00000367059.3_Silent_p.S773S|CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367057.3_Silent_p.S832S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	773	Sushi 12. {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.S832S(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						GATCTTGGAGCGGGCCTTCCC	0.443																																						ENST00000367058.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S832S(1)	kidney(1)	69						c.(2317-2319)agC>agT		complement component (3d/Epstein Barr virus) receptor 2		C	,	1,4405	2.1+/-5.4	0,1,2202	133.0	135.0	134.0		2496,2319	1.3	0.9	1	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CR2	NM_001006658.2,NM_001877.4	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	832/1093,773/1034	207648341	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1380	9	121408	45				g.chr1:207648341C>T	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.2319C>T	chr1.hg19:g.207648341C>T		1					CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367057.3_Silent_p.S832S|CR2_ENST00000367059.3_Silent_p.S773S	p.S773S	NM_001877.4	NP_001868.2	1	3	4	2.193440	P20023	CR2_HUMAN		13	2508	+			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	1	1	hg19	c.2319C>T	CCDS1478.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-7.260775	1	0.170000	NM_001877			159	155		445	435	1		1	1		0	0	104	0		1	2.858884e-01	0	2	0	2	0	159	445
CR1	1378	broad.mit.edu	37	1	207669657	207669657	+	Silent	SNP	G	G	A	rs375945701		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207669657G>A	ENST00000367049.4	+	1	45	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Silent_p.P15P|CR1_ENST00000367053.1_Silent_p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	15					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)			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						TCGGGCCGCCGGCGCCCGGTC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13255	0.0		0.0	False		,,,				2504	0.0					ENST00000367049.4	1.000000	0.220000	1	3.300000e-01	0.470000	0.570126	0.470000	0.410000																										0				82						c.(43-45)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)		G	,	3,3641		0,3,1819	20.0	26.0	24.0		45,45	-3.8	0.0	1		24	0,8142		0,0,4071	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5890	AA,AG,GG		0.0,0.0823,0.0255	,	15/2040,15/2490	207669657	3,11783	1822	4071	5893	SO:0001819	synonymous_variant	1378	6	120662	35				g.chr1:207669657G>A	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.45G>A	chr1.hg19:g.207669657G>A		1					CR1_ENST00000367051.1_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.P15P	p.P15P	NM_000651.4	NP_000642.3	1	3	4	2.193440	P17927	CR1_HUMAN		1	45	+			Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	0	1	hg19	c.45G>A	CCDS44308.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	0	1		2	2	2	0		0	0	40		40	36	1	2.060000	-10.646730	1	0.170000	NM_000573			10	10		306	299	0		1	0		0	0	40	0		9.966410e-01	1.301236e-03	0	0	0	2	0	10	306
CR1	1378	broad.mit.edu	37	1	207696994	207696994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207696994G>A	ENST00000367049.4	+	5	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Intron|CR1_ENST00000367053.1_Missense_Mutation_p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	176	Sushi 3. {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)			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						CACCAATGGAGATTTCATTAG	0.448																																						ENST00000367049.4	1.000000	0.230000	1	3.200000e-01	0.460000	0.562559	0.460000	0.410000																										0				82						c.(526-528)Gat>Aat		complement component (3b/4b) receptor 1 (Knops blood group)							81.0	73.0	75.0					1																	207696994		1849	4081	5930	SO:0001583	missense	1378	0	0					g.chr1:207696994G>A	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.526G>A	chr1.hg19:g.207696994G>A	ENSP00000356016:p.Asp176Asn	1					CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D176N	p.D176N	NM_000651.4	NP_000642.3	1	3	4	2.193440	P17927	CR1_HUMAN		5	526	+			Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	0	1	hg19	c.526G>A	CCDS44308.1	0	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245631	0.22796	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.16	-3.25	0.05079	4.16	-3.25	0.05079	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25938	0.0632	L	0.54863	1.705	0.09310	N	1	B;D;B;B;B	0.65815	0.005;0.995;0.209;0.005;0.012	B;D;B;B;B	0.65987	0.01;0.94;0.255;0.01;0.01	T	0.24977	-1.0145	9	0.18276	T	0.48	.	0.2928	0.00261	0.2781:0.1416:0.292:0.2883	.	626;176;151;176;176	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	N	176	ENSP00000356019:D176N;ENSP00000356020:D176N;ENSP00000383744:D176N;ENSP00000436139:D176N;ENSP00000356016:D176N	ENSP00000356016:D176N	D	+	1	0	0	CR1	205763617	205763617	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	-1.635000	0.02018	-0.458000	0.07023	0.461000	0.40582	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	0	0		2	2	2	0		0	0	57		57	60	1	2.060000	-11.223920	1	0.170000	NM_000573			11	9		342	318	0		1	0		0	0	57	0		9.975599e-01	1.140565e-02	0	0	0	5	0	11	342
CR1L	1379	broad.mit.edu	37	1	207850896	207850896	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207850896C>A	ENST00000508064.2	+	2	320	c.260C>A	c.(259-261)gCt>gAt	p.A87D	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	87	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGACAAGTGCTAAGGACAAG	0.418																																						ENST00000508064.2	1.000000	0.250000	1	3.200000e-01	0.410000	0.528423	0.410000	0.380000																										0				22						c.(259-261)gCt>gAt		complement component (3b/4b) receptor 1-like							183.0	165.0	171.0					1																	207850896		1854	4091	5945	SO:0001583	missense	1379	0	0					g.chr1:207850896C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.260C>A	chr1.hg19:g.207850896C>A	ENSP00000421736:p.Ala87Asp	1					CR1L_ENST00000530905.1_3'UTR	p.A87D	NM_175710.1	NP_783641.1	1	3	4	2.193440	Q2VPA4	CR1L_HUMAN		2	320	+			Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	1	1	hg19	c.260C>A	CCDS44310.1	0	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123116	0.37436	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64803	-0.12	2.55	-0.926	0.10455	2.55	-0.926	0.10455	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68118	0.2966	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	D	0.66196	0.942	T	0.58399	-0.7643	9	0.12430	T	0.62	.	5.3964	0.16271	0.0:0.4516:0.0:0.5484	.	87	Q2VPA4	CR1L_HUMAN	D	87	ENSP00000421736:A87D	ENSP00000434864:A31D	A	+	2	0	0	CR1L	205917519	205917519	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.768000	0.04715	-0.217000	0.10033	0.400000	0.26472	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-3.068407	1	0.170000	XM_114735			23	23		768	757	0		1	0		0	0	143	0		9.999992e-01	9.529225e-04	0	0	0	2	0	23	768
CR1L	1379	broad.mit.edu	37	1	207881576	207881576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	ENST00000508064.2	+	10	1442	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	461	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAATACTGCCCATTGGAGC	0.433																																						ENST00000508064.2	1.000000	0.370000	1	4.600000e-01	0.580000	0.654791	0.580000	0.540000																										0				22						c.(1381-1383)gCc>gTc		complement component (3b/4b) receptor 1-like							272.0	261.0	265.0					1																	207881576		1896	4113	6009	SO:0001583	missense	1379	0	0					g.chr1:207881576C>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1382C>T	chr1.hg19:g.207881576C>T	ENSP00000421736:p.Ala461Val	1					CR1L_ENST00000530905.1_Intron	p.A461V	NM_175710.1	NP_783641.1	1	3	4	2.193440	Q2VPA4	CR1L_HUMAN		10	1442	+			Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	1	1	hg19	c.1382C>T	CCDS44310.1	0	.	.	.	.	.	.	.	.	.	.	.	7.273	0.607529	0.14002	.	.	ENSG00000197721	ENST00000508064	T	0.65364	-0.15	1.67	0.527	0.17084	1.67	0.527	0.17084	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23886	0.0578	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	9	0.39692	T	0.17	.	3.1841	0.06594	0.0:0.2671:0.0:0.7329	.	461	Q2VPA4	CR1L_HUMAN	V	461	ENSP00000421736:A461V	ENSP00000421736:A461V	A	+	2	0	0	CR1L	205948199	205948199	0.001000	0.12720	0.003000	0.11579	0.054000	0.15201	-0.045000	0.12003	0.140000	0.18849	0.298000	0.19748	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	1		15	2	2	1		1	1	175		175	174	1	2.060000	-3.818725	1	0.170000	XM_114735			29	28		670	651	0		1			1	0	175	0		9.865981e-01	0	0	0	0	0	0	29	670
CR1L	1379	broad.mit.edu	37	1	207891028	207891028	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207891028T>G	ENST00000508064.2	+	11	1694	c.1634T>G	c.(1633-1635)gTt>gGt	p.V545G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	545						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAACTTCCTGTTGGTGCTGGT	0.488																																						ENST00000508064.2	1.000000	0.110000	1	1.700000e-01	0.250000	0.409845	0.250000	0.230000																										0				22						c.(1633-1635)gTt>gGt		complement component (3b/4b) receptor 1-like							116.0	117.0	116.0					1																	207891028		1980	4142	6122	SO:0001583	missense	1379	1	120914	31				g.chr1:207891028T>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1634T>G	chr1.hg19:g.207891028T>G	ENSP00000421736:p.Val545Gly	1						p.V545G	NM_175710.1	NP_783641.1	1	3	4	2.193440	Q2VPA4	CR1L_HUMAN		11	1694	+			Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	0	1	hg19	c.1634T>G	CCDS44310.1	0	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407155	0.11754	.	.	ENSG00000197721	ENST00000508064	T	0.35236	1.32	2.69	-4.61	0.03380	2.69	-4.61	0.03380	.	.	.	.	.	T	0.12433	0.0302	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	9	0.15499	T	0.54	.	5.2491	0.15512	0.0:0.4568:0.242:0.3012	.	545	Q2VPA4	CR1L_HUMAN	G	545	ENSP00000421736:V545G	ENSP00000421736:V545G	V	+	2	0	0	CR1L	205957651	205957651	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.570000	0.05895	-0.593000	0.05844	-0.756000	0.03474	GTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.333016	1	0.170000	XM_114735			10	10		581	569	0		1			0	0	103	0		9.965836e-01	0	0	0	0	0	0	10	581
CD46	4179	broad.mit.edu	37	1	207943701	207943701	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207943701T>C	ENST00000358170.2	+	9	1138	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000361067.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Intron|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	328					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)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGTCTCAAATTATCCAGGTTG	0.313																																						ENST00000358170.2	1.000000	0.330000	1	4.200000e-01	0.550000	0.631255	0.550000	0.500000																										0				19						c.(982-984)Tat>Cat		CD46 molecule, complement regulatory protein							78.0	84.0	82.0					1																	207943701		2203	4300	6503	SO:0001583	missense	4179	0	0					g.chr1:207943701T>C	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.982T>C	chr1.hg19:g.207943701T>C	ENSP00000350893:p.Tyr328His	1					CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000361067.1_Intron|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000480003.1_Intron|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000360212.2_Intron|CD46_ENST00000469535.1_3'UTR	p.Y328H	NM_002389.4	NP_002380.3	1	3	4	2.193440	P15529	MCP_HUMAN		9	1138	+			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	1	1	hg19	c.982T>C	CCDS1485.1	0	.	.	.	.	.	.	.	.	.	.	T	7.715	0.696002	0.15106	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839	T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	3.44	-5.85	0.02311	3.44	-5.85	0.02311	.	1.535010	0.04251	N	0.338652	T	0.52741	0.1753	L	0.32530	0.975	0.09310	N	1	P;B;B;D;D;D;B;D	0.89917	0.936;0.42;0.184;1.0;0.997;0.965;0.184;0.995	P;B;B;D;D;P;B;D	0.74674	0.512;0.098;0.057;0.984;0.944;0.563;0.057;0.969	T	0.52888	-0.8515	10	0.17369	T	0.5	.	5.7131	0.17945	0.0:0.4127:0.3143:0.273	.	298;313;298;328;313;298;313;328	P15529-4;P15529-3;P15529-12;P15529-2;P15529-11;P15529-9;P15529-8;P15529	.;.;.;.;.;.;.;MCP_HUMAN	H	328;313;298;313;298;298;328;265;313	ENSP00000350893:Y328H;ENSP00000346912:Y313H;ENSP00000314664:Y298H;ENSP00000356009:Y313H;ENSP00000356008:Y298H;ENSP00000350346:Y298H;ENSP00000313875:Y328H;ENSP00000356014:Y265H;ENSP00000413543:Y313H	ENSP00000313875:Y328H	Y	+	1	0	0	CD46	206010324	206010324	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-1.745000	0.01831	-1.274000	0.02421	0.402000	0.26972	TAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.738670	1	0.170000	NM_172361			21	22		520	508	0		1	1		0	0	48	0		9.999970e-01	1	0	101	0	1661	0	21	520
CD34	947	broad.mit.edu	37	1	208062870	208062870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208062870G>A	ENST00000310833.7	-	5	1015	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000356522.4_Missense_Mutation_p.L232F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	232					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGGGCAAGGAGCAGGGAGCAT	0.617																																						ENST00000310833.7	1.000000	0.150000	1	2.600000e-01	0.440000	0.537684	0.440000	0.340000																										0				13						c.(694-696)Ctc>Ttc		CD34 molecule							75.0	70.0	72.0					1																	208062870		2203	4300	6503	SO:0001583	missense	947	0	0					g.chr1:208062870G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.694C>T	chr1.hg19:g.208062870G>A	ENSP00000310036:p.Leu232Phe	1					CD34_ENST00000356522.4_Missense_Mutation_p.L232F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000485761.1_5'UTR	p.L232F	NM_001025109.1	NP_001020280.1	1	3	4	2.193440	P28906	CD34_HUMAN		5	1015	-			A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	0	1	hg19	c.694C>T	CCDS31011.1	0	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269298	0.59540	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.38	3.32	0.38043	5.38	3.32	0.38043	.	0.574499	0.17561	N	0.169820	T	0.43634	0.1256	M	0.63428	1.95	0.27559	N	0.950238	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.70487	0.969;0.956;0.935;0.952	T	0.16988	-1.0384	10	0.46703	T	0.11	-3.214	9.9748	0.41777	0.0:0.0:0.5552:0.4448	.	97;232;232;74	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	F	232;232;74;97;202	ENSP00000310036:L232F;ENSP00000348916:L232F;ENSP00000356003:L74F;ENSP00000442874:L97F	ENSP00000310036:L232F	L	-	1	0	0	CD34	206129493	206129493	0.907000	0.30839	0.849000	0.33467	0.742000	0.42306	0.784000	0.26816	1.243000	0.43853	0.650000	0.86243	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-7.278883	1	0.170000	NM_001773			5	5		183	180	0		1	0		0	0	47	0		9.357216e-01	7.665175e-01	0	0	0	101	0	5	183
PLXNA2	5362	broad.mit.edu	37	1	208213029	208213029	+	Silent	SNP	G	G	A	rs188406573	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208213029G>A	ENST00000367033.3	-	24	5194	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1479					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)			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)		AGCGGGCCTCGCCCGTGATGG	0.617													G|||	6	0.00119808	0.0	0.0	5008	,	,		14555	0.003		0.002	False		,,,				2504	0.001					ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4435-4437)ggC>ggT		plexin A2							89.0	85.0	86.0					1																	208213029		2203	4300	6503	SO:0001819	synonymous_variant	5362	43	121412	49				g.chr1:208213029G>A	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.4437C>T	chr1.hg19:g.208213029G>A		1						p.G1479G	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		24	5194	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	1	0	hg19	c.4437C>T	CCDS31013.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		19	4	2	1		1	1	90		90	90	1	2.060000	-3.221889	1	0.170000	NM_025179			136	135		367	361	1		1	1		1	0	90	0		1	9.994325e-01	0	10	0	37	0	136	367
PLXNA2	5362	broad.mit.edu	37	1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1286					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)			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)		CACTCCAAGGCCACACGGGAC	0.527																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3856-3858)Gcc>Acc		plexin A2							99.0	79.0	85.0					1																	208217871		2203	4300	6503	SO:0001583	missense	5362	0	0					g.chr1:208217871C>T	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.3856G>A	chr1.hg19:g.208217871C>T	ENSP00000356000:p.Ala1286Thr	1						p.A1286T	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		20	4613	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.3856G>A	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557458	0.86231	.	.	ENSG00000076356	ENST00000367033	T	0.01034	5.42	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02333	-1.1175	10	0.66056	D	0.02	.	18.2148	0.89881	0.0:1.0:0.0:0.0	.	1286	O75051	PLXA2_HUMAN	T	1286	ENSP00000356000:A1286T	ENSP00000356000:A1286T	A	-	1	0	0	PLXNA2	206284494	206284494	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.538000	0.82048	2.281000	0.76405	0.467000	0.42956	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_025179			58	58		208	204	1		1	1		0	0	61	0		1	9.938984e-01	0	11	0	20	0	58	208
PLXNA2	5362	broad.mit.edu	37	1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1047	IPT/TIG 3.				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)			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)		CACTCTGGCTCGATGCGCTGG	0.597																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				80						c.(3139-3141)Gag>Aag		plexin A2							77.0	66.0	69.0					1																	208224623		2203	4300	6503	SO:0001583	missense	5362	0	0					g.chr1:208224623C>T	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.3139G>A	chr1.hg19:g.208224623C>T	ENSP00000356000:p.Glu1047Lys	1						p.E1047K	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		16	3896	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.3139G>A	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604567	0.87157	.	.	ENSG00000076356	ENST00000367033	T	0.77489	-1.1	5.09	5.09	0.68999	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048539	0.85682	D	0.000000	T	0.80265	0.4591	L	0.56396	1.775	0.80722	D	1	D	0.59767	0.986	P	0.51742	0.678	T	0.76429	-0.2962	10	0.12766	T	0.61	.	18.5087	0.90907	0.0:1.0:0.0:0.0	.	1047	O75051	PLXA2_HUMAN	K	1047	ENSP00000356000:E1047K	ENSP00000356000:E1047K	E	-	1	0	0	PLXNA2	206291246	206291246	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.485000	0.81204	2.363000	0.80096	0.557000	0.71058	GAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_025179			45	43		265	258	1		1	1		0	0	60	0		1	9.744905e-01	0	9	0	28	0	45	265
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A	rs374437126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	754					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)			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)		CTGTTGAAGCGCAGAGCGGGG	0.622																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2260-2262)Cgc>Tgc		plexin A2		G	CYS/ARG	0,4406		0,0,2203	64.0	70.0	68.0		2260	5.7	1.0	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	754/1895	208257763	1,13005	2203	4300	6503	SO:0001583	missense	5362	1	121412	35				g.chr1:208257763G>A	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.2260C>T	chr1.hg19:g.208257763G>A	ENSP00000356000:p.Arg754Cys	1						p.R754C	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		10	3017	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.2260C>T	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856472	0.91355	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.01087	-1.1456	10	0.56958	D	0.05	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	754	O75051	PLXA2_HUMAN	C	754	ENSP00000356000:R754C	ENSP00000356000:R754C	R	-	1	0	0	PLXNA2	206324386	206324386	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.527000	0.81931	2.676000	0.91093	0.650000	0.86243	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_025179			127	124		372	362	1		1	1		0	0	104	0		1	9.999862e-01	0	11	0	39	0	127	372
PLXNA2	5362	broad.mit.edu	37	1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					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)			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)		CAGAGGTTGCGGTACTTGCAC	0.547																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999577	0.990000	1.000000																										0				80						c.(2032-2034)Cgc>Tgc		plexin A2							100.0	86.0	91.0					1																	208266196		2203	4300	6503	SO:0001583	missense	5362	0	0					g.chr1:208266196G>A	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.2032C>T	chr1.hg19:g.208266196G>A	ENSP00000356000:p.Arg678Cys	1						p.R678C	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		9	2789	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.2032C>T	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971966	0.92919	.	.	ENSG00000076356	ENST00000367033	T	0.18502	2.21	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.51227	0.1662	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55528	-0.8127	10	0.72032	D	0.01	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	678	O75051	PLXA2_HUMAN	C	678	ENSP00000356000:R678C	ENSP00000356000:R678C	R	-	1	0	0	PLXNA2	206332819	206332819	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.249000	0.72427	2.778000	0.95560	0.655000	0.94253	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-2.744929	1	0.170000	NM_025179			30	29		223	216	1		1	1		0	0	44	0		1	9.756742e-01	0	11	0	36	0	30	223
PLXNA2	5362	broad.mit.edu	37	1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)			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)		AGAGGTCATGCGGTCCCTGCT	0.542																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1291-1293)cGc>cAc		plexin A2							118.0	86.0	97.0					1																	208383704		2203	4300	6503	SO:0001583	missense	5362	1	121412	26				g.chr1:208383704C>T	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.1292G>A	chr1.hg19:g.208383704C>T	ENSP00000356000:p.Arg431His	1						p.R431H	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		3	2049	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.1292G>A	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254088	0.80135	.	.	ENSG00000076356	ENST00000367033	T	0.12672	2.66	5.63	5.63	0.86233	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.62491	0.814;0.903	T	0.01390	-1.1367	10	0.21014	T	0.42	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	485;431	O75051-2;O75051	.;PLXA2_HUMAN	H	431	ENSP00000356000:R431H	ENSP00000356000:R431H	R	-	2	0	0	PLXNA2	206450327	206450327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.652000	0.90054	0.655000	0.94253	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-2.893248	1	0.170000	NM_025179			40	39		183	179	1		1	0		0	0	39	0		1	9.310656e-01	0	1	0	22	0	40	183
PLXNA2	5362	broad.mit.edu	37	1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)			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)		GAGCTTGCCATCCTCACCCTC	0.592																																						ENST00000367033.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(535-537)gAt>gTt		plexin A2							145.0	146.0	146.0					1																	208390732		2203	4300	6503	SO:0001583	missense	5362	0	0					g.chr1:208390732T>A	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.536A>T	chr1.hg19:g.208390732T>A	ENSP00000356000:p.Asp179Val	1						p.D179V	NM_025179.3	NP_079455.3	1	3	4	2.193440	O75051	PLXA2_HUMAN		2	1293	-			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	1	1	hg19	c.536A>T	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	T	7.667	0.686145	0.14973	.	.	ENSG00000076356	ENST00000367033	T	0.04234	3.67	5.71	5.71	0.89125	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.08802	0.0218	L	0.59436	1.845	0.80722	D	1	P;B	0.40282	0.711;0.209	B;B	0.39379	0.298;0.109	T	0.03662	-1.1015	9	0.54805	T	0.06	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	233;179	O75051-2;O75051	.;PLXA2_HUMAN	V	179	ENSP00000356000:D179V	ENSP00000356000:D179V	D	-	2	0	0	PLXNA2	206457355	206457355	1.000000	0.71417	0.532000	0.27989	0.096000	0.18686	7.751000	0.85126	2.178000	0.69098	0.460000	0.39030	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1		2	2	2	0		0	0	179		179	177	1	2.060000	-20.000000	1	0.170000	NM_025179			356	348		748	740	1		1	1		0	0	179	0		1	9.999989e-01	0	7	0	37	0	356	748
CAMK1G	57172	broad.mit.edu	37	1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	273	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)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(817-819)aGt>aTt		calcium/calmodulin-dependent protein kinase IG							161.0	135.0	144.0					1																	209783265		2203	4300	6503	SO:0001583	missense	57172	0	0					g.chr1:209783265G>T		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.818G>T	chr1.hg19:g.209783265G>T	ENSP00000009105:p.Ser273Ile	1					CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I|CAMK1G_ENST00000494990.1_3'UTR	p.S273I			1	3	4	2.193440	Q96NX5	KCC1G_HUMAN		9	1063	+			Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	1	1	hg19	c.818G>T	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620103	0.46736	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.66460	-0.21;-0.21	4.83	4.83	0.62350	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.195621	0.36101	N	0.002785	T	0.64011	0.2560	M	0.67625	2.065	0.26610	N	0.972854	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.006	T	0.60850	-0.7181	10	0.62326	D	0.03	.	11.7699	0.51951	0.0818:0.0:0.9182:0.0	.	273;273	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	I	273	ENSP00000009105:S273I;ENSP00000354861:S273I	ENSP00000009105:S273I	S	+	2	0	0	CAMK1G	207849888	207849888	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.297000	0.43593	2.383000	0.81215	0.313000	0.20887	AGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_020439			49	49		232	222	1		1	0		0	0	58	0		1	8.446876e-01	0	0	0	18	0	49	232
DDOST	1650	broad.mit.edu	37	1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000415136.2_Intron	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512																																						ENST00000375048.3	0.990000	0.490000	9.200000e-01	6.200000e-01	0.780000	0.776114	0.780000	0.810000																										0				13						c.(271-273)Gaa>Taa		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							70.0	69.0	70.0					1																	20987419		2203	4300	6503	SO:0001587	stop_gained	1650	0	0					g.chr1:20987419C>A	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.271G>T	chr1.hg19:g.20987419C>A	ENSP00000364188:p.Glu91*	1					DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000415136.2_Intron	p.E91*	NM_005216.4	NP_005207	0	1	1	1.828421	P39656	OST48_HUMAN		2	376	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Nonsense_Mutation	SNP	ENST00000375048.3	0	1	hg19	c.271G>T	CCDS212.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.559908	0.97663	.	.	ENSG00000244038	ENST00000375048	.	.	.	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-34.5713	18.9259	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000364188:E91X	E	-	1	0	0	DDOST	20860006	20860006	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.056000	0.71111	2.547000	0.85894	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.318865	1	0.170000	NM_005216			16	16		187	179	0		1	1		0	0	50	0		9.999232e-01	1	0	2	0	760	0	16	187
LAMB3	3914	broad.mit.edu	37	1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000356082.4	-	17	2628	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S|LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	832	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652																																						ENST00000356082.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.993342	0.990000	1.000000																										0				45						c.(2494-2496)Gcg>Tcg		laminin, beta 3							59.0	71.0	67.0					1																	209796389		2203	4300	6503	SO:0001583	missense	3914	0	0					g.chr1:209796389C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2494G>T	chr1.hg19:g.209796389C>A	ENSP00000348384:p.Ala832Ser	1					LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S|MIR4260_ENST00000583107.1_RNA	p.A832S	NM_000228.2	NP_000219.2	1	3	4	2.193440	Q13751	LAMB3_HUMAN		17	2628	-			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	1	1	hg19	c.2494G>T	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303492	0.40795	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.49139	0.79;0.79;0.79	5.21	4.28	0.50868	5.21	4.28	0.50868	.	0.115379	0.64402	D	0.000019	T	0.57417	0.2052	M	0.77616	2.38	0.21841	N	0.999519	D	0.58620	0.983	P	0.53313	0.723	T	0.54139	-0.8338	10	0.52906	T	0.07	.	8.3981	0.32570	0.1556:0.7661:0.0:0.0783	.	832	Q13751	LAMB3_HUMAN	S	832	ENSP00000375778:A832S;ENSP00000348384:A832S;ENSP00000355997:A832S	ENSP00000348384:A832S	A	-	1	0	0	LAMB3	207863012	207863012	0.973000	0.33851	0.045000	0.18777	0.218000	0.24690	2.419000	0.44671	1.193000	0.43086	0.456000	0.33151	GCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	1	0	1		2	2	2	0		0	0	131		131	123	1	2.060000	-20.000000	1	0.170000	NM_000228			77	76		821	785	1		1	1		0	0	131	0		1	1	0	194	0	765	0	77	821
HSD11B1	3290	broad.mit.edu	37	1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	44					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGGGGCCAGCAAAGGGATCGG	0.507																																						ENST00000367028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(130-132)Aaa>Gaa		hydroxysteroid (11-beta) dehydrogenase 1	Prednisone(DB00635)						126.0	122.0	123.0					1																	209879197		2203	4300	6503	SO:0001583	missense	3290	0	0					g.chr1:209879197A>G	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.130A>G	chr1.hg19:g.209879197A>G	ENSP00000355995:p.Lys44Glu	1					HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	p.K44E	NM_001206741.1	NP_001193670.1	1	3	4	2.193440	P28845	DHI1_HUMAN		3	299	+			B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	1	1	hg19	c.130A>G	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633986	0.47049	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.51574	0.7;0.7;0.7	3.95	3.95	0.45737	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.312885	0.31834	N	0.006993	T	0.31482	0.0798	N	0.25957	0.775	0.35651	D	0.811754	B	0.33583	0.418	B	0.30105	0.111	T	0.46978	-0.9152	10	0.59425	D	0.04	.	9.0331	0.36271	0.8352:0.0:0.0:0.1647	.	44	P28845	DHI1_HUMAN	E	44	ENSP00000355995:K44E;ENSP00000261465:K44E;ENSP00000355994:K44E	ENSP00000261465:K44E	K	+	1	0	0	HSD11B1	207945820	207945820	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.909000	0.63314	1.746000	0.51805	0.363000	0.22086	AAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_005525			117	113		272	271	1		1	0		0	0	88	0		1	1	0	0	0	156	0	117	272
TRAF3IP3	80342	broad.mit.edu	37	1	209935961	209935961	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	149						integral component of membrane (GO:0016021)				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)		CTGGGGGCCTTCCTCCACAGG	0.592																																						ENST00000367024.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(445-447)ctT>ctG		TRAF3 interacting protein 3							63.0	63.0	63.0					1																	209935961		2203	4300	6503	SO:0001819	synonymous_variant	80342	0	0					g.chr1:209935961T>G		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.447T>G	chr1.hg19:g.209935961T>G		1					TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L	p.L149L			1	3	4	2.193440	Q9Y228	T3JAM_HUMAN		4	963	+			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	1	1	hg19	c.447T>G	CCDS1490.2	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000				63	62		303	292	1		1	0		0	0	72	0		1	9.210078e-01	0	0	0	23	0	63	303
C1orf74	148304	broad.mit.edu	37	1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468																																						ENST00000294811.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(793-795)cCg>cTg		chromosome 1 open reading frame 74		G	LEU/PRO	0,4406		0,0,2203	106.0	113.0	110.0		794	3.7	0.0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf74	NM_152485.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/270	209956186	1,13005	2203	4300	6503	SO:0001583	missense	148304	2	121412	32				g.chr1:209956186G>A	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.794C>T	chr1.hg19:g.209956186G>A	ENSP00000294811:p.Pro265Leu	1						p.P265L	NM_152485.2	NP_689698.1	1	3	4	2.193440	Q96LT6	CA074_HUMAN		2	1050	-				Missense_Mutation	SNP	ENST00000294811.1	1	1	hg19	c.794C>T	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930427	0.52866	0.0	1.16E-4	ENSG00000162757	ENST00000294811	T	0.47528	0.84	5.75	3.65	0.41850	5.75	3.65	0.41850	.	0.196250	0.45126	N	0.000382	T	0.44052	0.1275	M	0.65498	2.005	0.80722	D	1	P	0.35192	0.489	B	0.31946	0.138	T	0.42085	-0.9472	10	0.72032	D	0.01	-10.2285	10.4299	0.44400	0.0741:0.0:0.7951:0.1308	.	265	Q96LT6	CA074_HUMAN	L	265	ENSP00000294811:P265L	ENSP00000294811:P265L	P	-	2	0	0	C1orf74	208022809	208022809	1.000000	0.71417	0.014000	0.15608	0.987000	0.75469	5.814000	0.69208	0.618000	0.30179	0.655000	0.94253	CCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	0		2	2	2	0		0	0	143		143	142	1	2.060000	-3.041132	1	0.170000	NM_152485			118	117		557	541	1		1	1		0	0	143	0		1	8.675184e-01	0	8	0	11	0	118	557
C1orf74	148304	broad.mit.edu	37	1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512																																						ENST00000294811.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(712-714)tgG>tgT		chromosome 1 open reading frame 74							84.0	92.0	89.0					1																	209956266		2203	4300	6503	SO:0001583	missense	148304	0	0					g.chr1:209956266C>A	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.714G>T	chr1.hg19:g.209956266C>A	ENSP00000294811:p.Trp238Cys	1						p.W238C	NM_152485.2	NP_689698.1	1	3	4	2.193440	Q96LT6	CA074_HUMAN		2	970	-				Missense_Mutation	SNP	ENST00000294811.1	1	1	hg19	c.714G>T	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246145	0.80024	.	.	ENSG00000162757	ENST00000294811	T	0.65178	-0.14	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80243	-0.1463	10	0.87932	D	0	-48.2684	19.9376	0.97146	0.0:1.0:0.0:0.0	.	238	Q96LT6	CA074_HUMAN	C	238	ENSP00000294811:W238C	ENSP00000294811:W238C	W	-	3	0	0	C1orf74	208022889	208022889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.960000	0.76036	2.711000	0.92665	0.655000	0.94253	TGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-2.776000	1	0.170000	NM_152485			84	82		463	458	1		1	1		0	0	84	0		1	9.543437e-01	0	10	0	20	0	84	463
C1orf74	148304	broad.mit.edu	37	1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507																																						ENST00000294811.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(532-534)gGc>gAc		chromosome 1 open reading frame 74							103.0	110.0	108.0					1																	209956447		2203	4300	6503	SO:0001583	missense	148304	0	0					g.chr1:209956447C>T	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.533G>A	chr1.hg19:g.209956447C>T	ENSP00000294811:p.Gly178Asp	1						p.G178D	NM_152485.2	NP_689698.1	1	3	4	2.193440	Q96LT6	CA074_HUMAN		2	789	-				Missense_Mutation	SNP	ENST00000294811.1	1	1	hg19	c.533G>A	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131307	0.77549	.	.	ENSG00000162757	ENST00000294811	T	0.57752	0.38	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.120074	0.56097	D	0.000026	T	0.70631	0.3246	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73260	-0.4039	10	0.62326	D	0.03	-20.993	12.2654	0.54674	0.0:0.922:0.0:0.078	.	178	Q96LT6	CA074_HUMAN	D	178	ENSP00000294811:G178D	ENSP00000294811:G178D	G	-	2	0	0	C1orf74	208023070	208023070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.460000	0.83146	0.655000	0.94253	GGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_152485			135	133		447	439	1		1	1		0	0	112	0		1	9.622651e-01	0	11	0	9	0	135	447
IRF6	3664	broad.mit.edu	37	1	209963840	209963840	+	Splice_Site	SNP	C	C	T	rs200808685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Splice_Site_p.D259N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	354					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AATGACTTACCGCTAAGGAAT	0.473										HNSCC(57;0.16)																												ENST00000367021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1060-1062)Gat>Aat		interferon regulatory factor 6		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	67.0	62.0	64.0		775,1060	5.8	1.0	1		64	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice,missense-near-splice	IRF6	NM_001206696.1,NM_006147.3	23,23	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	259/373,354/468	209963840	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	3664	37	121412	46				g.chr1:209963840C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1060+1G>A	chr1.hg19:g.209963840C>T		1	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site_p.D259N|RP3-434O14.8_ENST00000430751.1_RNA	p.D354N	NM_006147.3	NP_006138.1	1	3	4	2.193440	O14896	IRF6_HUMAN		7	1232	-			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	1	0	hg19	c.1060G>A	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922566	0.52653	0.0	4.65E-4	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94966	-3.57;-3.57	5.75	5.75	0.90469	5.75	5.75	0.90469	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.407669	0.31461	N	0.007618	D	0.90943	0.7153	L	0.35542	1.07	0.58432	D	0.999995	B	0.31910	0.346	B	0.29663	0.105	D	0.88126	0.2835	9	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	354	O14896	IRF6_HUMAN	N	354;259	ENSP00000355988:D354N;ENSP00000440532:D259N	.	D	-	1	0	0	IRF6	208030463	208030463	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.311000	0.78958	2.716000	0.92895	0.655000	0.94253	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	0	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-2.771646	1	0.170000	NM_006147	Missense_Mutation		68	67		217	212	1		1	1		0	0	50	0		1	1	0	5	0	115	0	68	217
IRF6	3664	broad.mit.edu	37	1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.C222R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512										HNSCC(57;0.16)																												ENST00000367021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(949-951)Tgc>Cgc		interferon regulatory factor 6							95.0	78.0	84.0					1																	209963951		2203	4300	6503	SO:0001583	missense	3664	0	0					g.chr1:209963951A>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.949T>C	chr1.hg19:g.209963951A>G	ENSP00000355988:p.Cys317Arg	1	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.C222R|RP3-434O14.8_ENST00000430751.1_RNA	p.C317R	NM_006147.3	NP_006138.1	1	3	4	2.193440	O14896	IRF6_HUMAN		7	1121	-			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	1	1	hg19	c.949T>C	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002788	0.74932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95788	-3.81;-3.81	6.17	5.02	0.67125	6.17	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.040056	0.85682	D	0.000000	D	0.97614	0.9218	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	9	.	.	.	.	12.7001	0.57026	0.8765:0.0:0.0:0.1235	.	317	O14896	IRF6_HUMAN	R	317;222	ENSP00000355988:C317R;ENSP00000440532:C222R	.	C	-	1	0	0	IRF6	208030574	208030574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.747000	0.91610	1.097000	0.41459	0.533000	0.62120	TGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_006147			57	57		273	268	1		1	1		0	0	62	0		1	9.999991e-01	0	76	0	25	0	57	273
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)																												ENST00000367021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Unknown(2)	p.?(2)	lung(2)	28						c.e6-1		interferon regulatory factor 6							60.0	54.0	56.0					1																	209965773		2203	4300	6503	SO:0001630	splice_region_variant	3664	0	0					g.chr1:209965773C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.509-1G>A	chr1.hg19:g.209965773C>T		1	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site		NM_006147.3	NP_006138.1	1	3	4	2.193440	O14896	IRF6_HUMAN		6	681	-			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	1	1	hg19		CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001223	0.74818	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	IRF6	208032396	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_006147	Intron		46	45		183	177	1		1	0		0	0	44	0		1	1.085820e-01	0	1	0	2	0	46	183
KIF17	57576	broad.mit.edu	37	1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A	rs534971002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	487					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)			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)		AAAAGCAGGCGGGTACTCAGC	0.547													g|||	1	0.000199681	0.0	0.0	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.001					ENST00000247986.2	0.560000	0.200000	4.600000e-01	2.700000e-01	0.360000	0.373754	0.360000	0.350000																										0				50						c.(1459-1461)cCg>cTg		kinesin family member 17							78.0	72.0	74.0					1																	21014359		2203	4298	6501	SO:0001583	missense	57576	3	121398	35				g.chr1:21014359G>A	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.1460C>T	chr1.hg19:g.21014359G>A	ENSP00000247986:p.Pro487Leu	1					KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L	p.P487L			0	1	1	1.828421	Q9P2E2	KIF17_HUMAN		8	1770	-		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)	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	1	1	hg19	c.1460C>T	CCDS213.1	0	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446381	0.12223	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.69806	-0.43;-0.32;-0.33	4.93	-0.286	0.12862	4.93	-0.286	0.12862	.	1.577840	0.04772	U	0.428171	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.21540	T	0.41	.	4.1203	0.10103	0.3776:0.1698:0.4526:0.0	.	487;487	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	387;487;487	ENSP00000364184:P387L;ENSP00000383311:P487L;ENSP00000247986:P487L	ENSP00000247986:P487L	P	-	2	0	0	KIF17	20886946	20886946	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.213000	0.17521	0.290000	0.22444	0.491000	0.48974	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-2.456317	0	0.170000	NM_020816			14	14		406	398	0		1	0		0	0	131	0		9.997294e-01	7.642553e-03	0	0	0	4	0	14	406
IRF6	3664	broad.mit.edu	37	1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512										HNSCC(57;0.16)																												ENST00000367021.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(244-246)caG>caC		interferon regulatory factor 6							108.0	88.0	95.0					1																	209969826		2203	4300	6503	SO:0001583	missense	3664	0	0					g.chr1:209969826C>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.246G>C	chr1.hg19:g.209969826C>G	ENSP00000355988:p.Gln82His	1	HNSCC(57;0.16)				IRF6_ENST00000542854.1_5'UTR	p.Q82H	NM_006147.3	NP_006138.1	1	3	4	2.193440	O14896	IRF6_HUMAN		4	418	-			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	1	1	hg19	c.246G>C	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743250	0.69418	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97752	-4.52;-4.52	5.63	3.53	0.40419	5.63	3.53	0.40419	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052631	0.85682	D	0.000000	D	0.97161	0.9072	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.95928	0.8936	9	.	.	.	.	11.3709	0.49699	0.0:0.808:0.0:0.192	.	82	O14896	IRF6_HUMAN	H	82	ENSP00000355988:Q82H;ENSP00000403855:Q82H	.	Q	-	3	2	2	IRF6	208036449	208036449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	1.375000	0.46248	0.655000	0.94253	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000	NM_006147			66	64		194	191	1		1	1		0	0	51	0		1	1	0	9	0	112	0	66	194
KIF17	57576	broad.mit.edu	37	1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)		CTGCAGCAGCCGCGTCAGCTT	0.627																																						ENST00000247986.2	1.000000	0.770000	9.900000e-01	8.600000e-01	0.940000	0.931108	0.940000	0.990000																										0				50						c.(880-882)cGg>cAg		kinesin family member 17							94.0	83.0	86.0					1																	21031182		2203	4300	6503	SO:0001583	missense	57576	1	121412	27				g.chr1:21031182C>T	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.881G>A	chr1.hg19:g.21031182C>T	ENSP00000247986:p.Arg294Gln	1					KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q	p.R294Q			0	1	1	1.828421	Q9P2E2	KIF17_HUMAN		5	1191	-		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)	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	1	1	hg19	c.881G>A	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010521	0.93346	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77098	-1.07;-1.07;-1.07	5.11	5.11	0.69529	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.29638	U	0.011585	D	0.87657	0.6232	M	0.82923	2.615	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.88744	0.3245	10	0.87932	D	0	.	11.3633	0.49657	0.0:0.9066:0.0:0.0934	.	294;294	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	194;294;294	ENSP00000364184:R194Q;ENSP00000383311:R294Q;ENSP00000247986:R294Q	ENSP00000247986:R294Q	R	-	2	0	0	KIF17	20903769	20903769	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.925000	0.63425	2.554000	0.86153	0.462000	0.41574	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	1	0	1		2	2	2	0		0	0	71		71	66	1	2.060000	-3.142702	1	0.170000	NM_020816			50	49		420	410	1		1	0		0	0	71	0		1	6.109972e-02	0	0	0	4	0	50	420
SYT14	255928	broad.mit.edu	37	1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000472886.1	+	6	775	c.761A>C	c.(760-762)gAt>gCt	p.D254A	SYT14_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	254					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383																																						ENST00000472886.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(760-762)gAt>gCt		synaptotagmin XIV							65.0	62.0	63.0					1																	210273403		2203	4300	6503	SO:0001583	missense	255928	0	0					g.chr1:210273403A>C	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.761A>C	chr1.hg19:g.210273403A>C	ENSP00000418901:p.Asp254Ala	1					SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A	p.D254A			1	3	4	2.193440	Q8NB59	SYT14_HUMAN		6	775	+			B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	1	1	hg19	c.761A>C	CCDS31014.1	1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	5.88	3.53	0.40419	5.88	3.53	0.40419	C2 calcium/lipid-binding domain, CaLB (1);	0.207325	0.49305	D	0.000159	T	0.08403	0.0209	N	0.19112	0.55	0.52501	D	0.999958	B;B;P;B	0.49961	0.035;0.013;0.93;0.059	B;B;P;B	0.50440	0.017;0.01;0.641;0.039	T	0.32481	-0.9905	10	0.40728	T	0.16	-13.0195	7.8436	0.29412	0.809:0.0:0.067:0.124	.	282;254;254;299	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	299;254;254;216;254;254;216	ENSP00000389039:D299A;ENSP00000442891:D254A;ENSP00000445837:D254A;ENSP00000437423:D216A;ENSP00000355986:D254A;ENSP00000418901:D254A;ENSP00000355982:D216A	ENSP00000355982:D216A	D	+	2	0	0	SYT14	208340026	208340026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.569000	0.67391	0.457000	0.26962	0.477000	0.44152	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_153262			69	69		221	218	1		1			0	0	40	0		1	0	0	0	0	0	0	69	221
SERTAD4	56256	broad.mit.edu	37	1	210415304	210415304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488																																						ENST00000367012.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(691-693)tcC>tcA		SERTA domain containing 4							75.0	69.0	71.0					1																	210415304		2203	4300	6503	SO:0001819	synonymous_variant	56256	0	0					g.chr1:210415304C>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.693C>A	chr1.hg19:g.210415304C>A		1					SERTAD4_ENST00000490620.1_3'UTR	p.S231S	NM_019605.3	NP_062551.1	1	3	4	2.193440	Q9NUC0	SRTD4_HUMAN		4	923	+			B2RD32	Silent	SNP	ENST00000367012.3	1	1	hg19	c.693C>A	CCDS1494.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	0		2	2	2	0		0	0	63		63	61	1	2.060000	-5.598552	1	0.170000	NM_019605			118	116		359	335	0		1	0		0	0	63	0		1	1.550777e-01	0	0	0	3	0	118	359
SERTAD4	56256	broad.mit.edu	37	1	210415325	210415325	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	238	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488																																						ENST00000367012.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(712-714)ccG>ccA		SERTA domain containing 4							64.0	60.0	61.0					1																	210415325		2203	4300	6503	SO:0001819	synonymous_variant	56256	1	121408	30				g.chr1:210415325G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.714G>A	chr1.hg19:g.210415325G>A		1					SERTAD4_ENST00000490620.1_3'UTR	p.P238P	NM_019605.3	NP_062551.1	1	3	4	2.193440	Q9NUC0	SRTD4_HUMAN		4	944	+			B2RD32	Silent	SNP	ENST00000367012.3	1	1	hg19	c.714G>A	CCDS1494.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_019605			70	68		294	284	1		1	0		0	0	48	0		1	1.716936e-01	0	1	0	3	0	70	294
KIF17	57576	broad.mit.edu	37	1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	115	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)		GAAGGCCCTGGGGATGATGCC	0.652																																						ENST00000247986.2	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.936667	0.940000	0.990000																										0				50						c.(343-345)cCc>cTc		kinesin family member 17							86.0	76.0	79.0					1																	21042020		2203	4300	6503	SO:0001583	missense	57576	0	0					g.chr1:21042020G>A	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.344C>T	chr1.hg19:g.21042020G>A	ENSP00000247986:p.Pro115Leu	1					KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L	p.P115L			0	1	1	1.828421	Q9P2E2	KIF17_HUMAN		2	654	-		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)	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	1	1	hg19	c.344C>T	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.142515	0.94560	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	4.75	4.75	0.60458	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.32401	U	0.006150	D	0.89234	0.6657	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91885	0.5519	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	115;115	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	15;115;115	ENSP00000364184:P15L;ENSP00000383311:P115L;ENSP00000247986:P115L	ENSP00000247986:P115L	P	-	2	0	0	KIF17	20914607	20914607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.991000	0.93514	2.473000	0.83533	0.655000	0.94253	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-2.540642	1	0.170000	NM_020816			50	47		404	398	1		1	0		0	0	87	0		1	1.272602e-02	0	1	0	1	0	50	404
SERTAD4	56256	broad.mit.edu	37	1	210415340	210415340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	243						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498																																						ENST00000367012.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(727-729)caG>caA		SERTA domain containing 4							62.0	57.0	59.0					1																	210415340		2203	4300	6503	SO:0001819	synonymous_variant	56256	0	0					g.chr1:210415340G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.729G>A	chr1.hg19:g.210415340G>A		1					SERTAD4_ENST00000490620.1_3'UTR	p.Q243Q	NM_019605.3	NP_062551.1	1	3	4	2.193440	Q9NUC0	SRTD4_HUMAN		4	959	+			B2RD32	Silent	SNP	ENST00000367012.3	1	1	hg19	c.729G>A	CCDS1494.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_019605			62	59		256	249	1		1	0		0	0	43	0		1	2.569980e-01	0	1	0	4	0	62	256
HHAT	55733	broad.mit.edu	37	1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	445					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)			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)		GTCCAACCTGGTATTTCTTGG	0.483																																						ENST00000367010.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1333-1335)Gta>Tta		hedgehog acyltransferase							290.0	273.0	278.0					1																	210796957		2203	4300	6503	SO:0001583	missense	55733	0	0					g.chr1:210796957G>T	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.1333G>T	chr1.hg19:g.210796957G>T	ENSP00000355977:p.Val445Leu	1					HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L	p.V445L	NM_001170580.1	NP_001164051.1	1	3	4	2.193440	Q5VTY9	HHAT_HUMAN		11	1560	+			B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	1	1	hg19	c.1333G>T	CCDS1495.1	1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401967	0.62288	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.46451	2.17;0.87;2.16;2.16;2.13;2.2;2.17;2.2;2.17;0.88	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.065429	0.64402	D	0.000012	T	0.42017	0.1184	L	0.42686	1.345	0.37062	D	0.898122	P;D;P;P;P	0.53745	0.937;0.962;0.894;0.919;0.937	B;P;B;B;B	0.47827	0.239;0.558;0.437;0.327;0.377	T	0.46569	-0.9182	10	0.49607	T	0.09	-28.2492	11.4562	0.50183	0.0812:0.0:0.9188:0.0	.	400;446;308;380;445	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	445;308;446;380;445;382;445;400;445;135	ENSP00000416845:V445L;ENSP00000444995:V308L;ENSP00000438468:V446L;ENSP00000442625:V380L;ENSP00000375773:V445L;ENSP00000439229:V382L;ENSP00000261458:V445L;ENSP00000308628:V400L;ENSP00000355977:V445L;ENSP00000355976:V135L	ENSP00000261458:V445L	V	+	1	0	0	HHAT	208863580	208863580	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.638000	0.46562	2.879000	0.98667	0.650000	0.86243	GTA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	1	0	1		2	2	2	0		0	0	311		311	307	1	2.060000	-20.000000	1	0.170000	NM_018194			509	501		1334	1314	1		1	1		0	0	311	0		1	9.997440e-01	0	9	0	25	0	509	1334
KCNH1	3756	broad.mit.edu	37	1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000271751.4	-	11	2369	c.2342G>A	c.(2341-2343)aGc>aAc	p.S781N	KCNH1_ENST00000367007.4_Missense_Mutation_p.S754N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	781					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)			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)		CTTCACGAGGCTGTGGTTGGC	0.632																																						ENST00000271751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2341-2343)aGc>aAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							58.0	52.0	54.0					1																	210857251		2203	4300	6503	SO:0001583	missense	3756	0	0					g.chr1:210857251C>T	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.2342G>A	chr1.hg19:g.210857251C>T	ENSP00000271751:p.Ser781Asn	1					KCNH1_ENST00000367007.4_Missense_Mutation_p.S754N	p.S781N			1	3	4	2.193440	O95259	KCNH1_HUMAN		11	2369	-			B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	1	1	hg19	c.2342G>A	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843422	0.16963	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98996	-5.28;-5.31	4.64	2.65	0.31530	4.64	2.65	0.31530	.	0.968284	0.08580	N	0.924690	D	0.95661	0.8589	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91852	0.5492	10	0.35671	T	0.21	.	5.6062	0.17381	0.0:0.4757:0.3043:0.2201	.	754;781	Q14CL3;O95259	.;KCNH1_HUMAN	N	781;754	ENSP00000271751:S781N;ENSP00000355974:S754N	ENSP00000271751:S781N	S	-	2	0	0	KCNH1	208923874	208923874	0.000000	0.05858	0.119000	0.21687	0.781000	0.44180	0.876000	0.28092	0.933000	0.37291	0.462000	0.41574	AGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_002238			112	112		273	270	1		1			0	0	57	0		1	0	0	0	0	0	0	112	273
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000271751.4	-	9	1745	c.1718G>T	c.(1717-1719)cGc>cTc	p.R573L	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					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)			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)		GAACACCTTGCGGTTCAGGTG	0.617																																						ENST00000271751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1717-1719)cGc>cTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							62.0	58.0	59.0					1																	210971047		2203	4300	6503	SO:0001583	missense	3756	0	0					g.chr1:210971047C>A	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.1718G>T	chr1.hg19:g.210971047C>A	ENSP00000271751:p.Arg573Leu	1					KCNH1_ENST00000367007.4_Missense_Mutation_p.R546L	p.R573L			1	3	4	2.193440	O95259	KCNH1_HUMAN		9	1745	-			B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	1	1	hg19	c.1718G>T	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.233888	0.95207	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96334	-3.98;-3.98	5.36	5.36	0.76844	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.975	D	0.98880	1.0769	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	L	573;546	ENSP00000271751:R573L;ENSP00000355974:R546L	ENSP00000271751:R573L	R	-	2	0	0	KCNH1	209037670	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-2.924402	1	0.170000	NM_002238			55	55		311	305	1		1			0	0	60	0		1	0	0	0	0	0	0	55	311
EIF4G3	8672	broad.mit.edu	37	1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000264211.8	-	31	4894	c.4700C>T	c.(4699-4701)tCt>tTt	p.S1567F	EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S1573F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1567	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				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)			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)		TGCCGTGACAGATTTCAGAGC	0.463																																						ENST00000264211.8	1.000000	0.960000	1	9.800000e-01	0.990000	0.994682	0.990000	1.000000																										0				70						c.(4699-4701)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							197.0	196.0	196.0					1																	21133870		2203	4300	6503	SO:0001583	missense	8672	0	0					g.chr1:21133870G>A	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.4700C>T	chr1.hg19:g.21133870G>A	ENSP00000264211:p.Ser1567Phe	1					EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S1573F	p.S1567F	NM_003760.4	NP_003751.2	0	1	1	1.828421	O43432	IF4G3_HUMAN		31	4894	-		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)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	1	1	hg19	c.4700C>T	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505352	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.6	5.6	0.85130	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.996;0.999;1.0	D	0.93073	0.6484	10	0.87932	D	0	-15.8192	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1762;1287;1171;1573;1567	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	1567;1763;1567;1287;1057;1573;1171	ENSP00000264211:S1567F;ENSP00000383274:S1567F;ENSP00000364071:S1287F;ENSP00000442010:S1057F;ENSP00000364073:S1573F;ENSP00000444693:S1171F	ENSP00000264211:S1567F	S	-	2	0	0	EIF4G3	21006457	21006457	1.000000	0.71417	0.860000	0.33809	0.995000	0.86356	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1		2	2	2	0		0	0	176		176	172	1	2.060000	-20.000000	1	0.170000	NM_003760			196	195		781	768	1		1	1		0	0	176	0		1	1	0	23	0	101	0	196	781
KCNH1	3756	broad.mit.edu	37	1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000271751.4	-	2	218	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000367007.4_Missense_Mutation_p.S64I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	64	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)			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)		GCAGGTGCTGCTTTTTTGCAT	0.423																																						ENST00000271751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(190-192)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							138.0	140.0	139.0					1																	211280608		2203	4300	6503	SO:0001583	missense	3756	0	0					g.chr1:211280608C>A	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.191G>T	chr1.hg19:g.211280608C>A	ENSP00000271751:p.Ser64Ile	1					KCNH1_ENST00000367007.4_Missense_Mutation_p.S64I	p.S64I			1	3	4	2.193440	O95259	KCNH1_HUMAN		2	218	-			B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	1	1	hg19	c.191G>T	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703773	0.88924	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99691	-6.42;-6.42	5.62	5.62	0.85841	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97620	1.0135	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	64;64	Q14CL3;O95259	.;KCNH1_HUMAN	I	64	ENSP00000271751:S64I;ENSP00000355974:S64I	ENSP00000271751:S64I	S	-	2	0	0	KCNH1	209347231	209347231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.634000	0.89283	0.655000	0.94253	AGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_002238			100	97		470	460	1		1			0	0	117	0		1	0	0	0	0	0	0	100	470
RCOR3	55758	broad.mit.edu	37	1	211449613	211449613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	65	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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373																																						ENST00000367005.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(193-195)ttG>ttA		REST corepressor 3							221.0	220.0	220.0					1																	211449613		2203	4300	6503	SO:0001819	synonymous_variant	55758	0	0					g.chr1:211449613G>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.195G>A	chr1.hg19:g.211449613G>A		1					RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L|RCOR3_ENST00000452621.2_Silent_p.L123L	p.L65L	NM_018254.3	NP_060724.1	1	3	4	2.193440	Q9P2K3	RCOR3_HUMAN		4	336	+			B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	1	1	hg19	c.195G>A	CCDS31016.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	1	0	1		2	2	2	0		0	0	240		240	240	1	2.060000	-20.000000	1	0.170000	NM_018254			266	259		779	762	1		1	1		0	0	240	0		1	1	0	20	0	55	0	266	779
TRAF5	7188	broad.mit.edu	37	1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	411	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)			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)		TGGAAGGTGACAGATTACAAG	0.468																																						ENST00000261464.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1231-1233)aCa>aTa		TNF receptor-associated factor 5							125.0	133.0	130.0					1																	211545602		2203	4300	6503	SO:0001583	missense	7188	0	0					g.chr1:211545602C>T	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.1232C>T	chr1.hg19:g.211545602C>T	ENSP00000261464:p.Thr411Ile	1					TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	p.T411I	NM_001033910.2	NP_001029082.1	1	3	4	2.193440	O00463	TRAF5_HUMAN		11	1286	+			B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	1	1	hg19	c.1232C>T	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367647	0.42003	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37584	2.05;1.19;2.05;2.05	5.16	5.16	0.70880	5.16	5.16	0.70880	TRAF-type (1);TRAF-like (1);MATH (2);	0.299246	0.36703	N	0.002445	T	0.42607	0.1210	M	0.76170	2.325	0.34214	D	0.674685	P;B;P	0.48294	0.908;0.437;0.698	B;B;B	0.44224	0.436;0.3;0.444	T	0.60525	-0.7246	10	0.39692	T	0.17	-19.4905	13.3653	0.60680	0.0:0.924:0.0:0.076	.	305;422;411	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	411;305;411;411	ENSP00000336825:T411I;ENSP00000389891:T305I;ENSP00000261464:T411I;ENSP00000355971:T411I	ENSP00000261464:T411I	T	+	2	0	0	TRAF5	209612225	209612225	0.884000	0.30299	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.561000	0.86390	0.650000	0.86243	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	1	0	1		2	2	2	0		0	0	188		188	185	1	2.060000	-20.000000	1	0.170000	NM_004619			271	268		734	722	1		1	1		0	0	188	0		1	9.999776e-01	0	3	0	41	0	271	734
SLC30A1	7779	broad.mit.edu	37	1	211749594	211749594	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	220					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368																																						ENST00000367001.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(658-660)gtA>gtG		solute carrier family 30 (zinc transporter), member 1							36.0	41.0	39.0					1																	211749594		2110	4069	6179	SO:0001819	synonymous_variant	7779	0	0					g.chr1:211749594T>C	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.660A>G	chr1.hg19:g.211749594T>C		1						p.V220V	NM_021194.2	NP_067017.2	1	3	4	2.193440	Q9Y6M5	ZNT1_HUMAN		2	789	-			Q0VAK9|Q9BZF6	Silent	SNP	ENST00000367001.4	1	1	hg19	c.660A>G	CCDS1499.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000				62	62		263	260	1		1	1		0	0	48	0		1	1	0	37	0	98	0	62	263
INTS7	25896	broad.mit.edu	37	1	212148514	212148514	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.S554S	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	603					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		TTACTGTTAAGGAAGCAATCC	0.373																																						ENST00000366994.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1807-1809)tcC>tcA		integrator complex subunit 7							64.0	61.0	62.0					1																	212148514		2203	4300	6503	SO:0001819	synonymous_variant	25896	0	0					g.chr1:212148514G>T	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.1809C>A	chr1.hg19:g.212148514G>T		1					INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR	p.S603S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	1	3	4	2.193440	Q9NVH2	INT7_HUMAN		13	1913	-			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	1	1	hg19	c.1809C>A	CCDS1501.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.957615	1	0.170000	NM_015434			52	50		168	162	1		1	1		0	0	53	0		1	9.998439e-01	0	15	0	31	0	52	168
INTS7	25896	broad.mit.edu	37	1	212151704	212151704	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L411L	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	460					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		CCAGCACCGGCAGTTGCATGG	0.522																																						ENST00000366994.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1378-1380)ctG>ctA		integrator complex subunit 7							111.0	105.0	107.0					1																	212151704		2203	4300	6503	SO:0001819	synonymous_variant	25896	0	0					g.chr1:212151704C>T	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.1380G>A	chr1.hg19:g.212151704C>T		1					INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR	p.L460L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	1	3	4	2.193440	Q9NVH2	INT7_HUMAN		11	1484	-			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	1	1	hg19	c.1380G>A	CCDS1501.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.318980	1	0.170000	NM_015434			90	89		521	512	1		1	1		0	0	103	0		1	9.996233e-01	0	19	0	48	0	90	521
INTS7	25896	broad.mit.edu	37	1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V	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	188					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		TACTGGTGTCGCTAAACCTAG	0.383																																						ENST00000366994.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(562-564)gCg>gTg		integrator complex subunit 7							99.0	90.0	93.0					1																	212180785		2203	4300	6503	SO:0001583	missense	25896	0	0					g.chr1:212180785G>A	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.563C>T	chr1.hg19:g.212180785G>A	ENSP00000355961:p.Ala188Val	1					INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR	p.A188V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	1	3	4	2.193440	Q9NVH2	INT7_HUMAN		6	667	-			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	1	1	hg19	c.563C>T	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068795	0.55539	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.04	6.04	0.98038	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.148508	0.64402	D	0.000012	T	0.35128	0.0921	L	0.43923	1.385	0.54753	D	0.99998	P;P;P;P	0.50443	0.935;0.935;0.935;0.935	P;P;P;P	0.44772	0.46;0.46;0.46;0.46	T	0.01460	-1.1349	10	0.37606	T	0.19	-9.9486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	139;188;188;188	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	188;188;188;139	ENSP00000355961:A188V;ENSP00000355960:A188V;ENSP00000355959:A188V;ENSP00000388908:A139V	ENSP00000355959:A188V	A	-	2	0	0	INTS7	210247408	210247408	1.000000	0.71417	0.885000	0.34714	0.036000	0.12997	5.077000	0.64419	2.873000	0.98535	0.561000	0.74099	GCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.034130	1	0.170000	NM_015434			56	56		291	288	1		1	1		0	0	45	0		1	9.982291e-01	0	10	0	42	0	56	291
DTL	51514	broad.mit.edu	37	1	212251574	212251574	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	DTL_ENST00000542077.1_Silent_p.S323S|DTL_ENST00000475419.1_3'UTR|MIR3122_ENST00000577243.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	365					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413																																						ENST00000366991.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1093-1095)tcT>tcG		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							147.0	132.0	137.0					1																	212251574		2203	4300	6503	SO:0001819	synonymous_variant	51514	0	0					g.chr1:212251574T>G	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1095T>G	chr1.hg19:g.212251574T>G		1					DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S|MIR3122_ENST00000577243.1_RNA	p.S365S	NM_016448.2	NP_057532.2	1	3	4	2.193440	Q9NZJ0	DTL_HUMAN		12	1409	+			A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	1	1	hg19	c.1095T>G	CCDS1502.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_016448			88	85		313	303	1		1	1		0	0	77	0		1	9.877175e-01	0	12	0	15	0	88	313
PPP2R5A	5525	broad.mit.edu	37	1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	213					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)			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)		GTTCTGCACCGAATTTATGGG	0.323																																						ENST00000261461.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(637-639)cGa>cAa		protein phosphatase 2, regulatory subunit B', alpha							73.0	74.0	74.0					1																	212519209		2203	4300	6503	SO:0001583	missense	5525	0	0					g.chr1:212519209G>A	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.638G>A	chr1.hg19:g.212519209G>A	ENSP00000261461:p.Arg213Gln	1					PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	p.R213Q	NM_006243.3	NP_006234.1	1	3	4	2.193440	Q15172	2A5A_HUMAN		5	1212	+			B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	1	1	hg19	c.638G>A	CCDS1503.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.750126	0.96890	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88499	0.3081	9	0.87932	D	0	-7.3463	19.3549	0.94408	0.0:0.0:1.0:0.0	.	156;213	B7Z7L2;Q15172	.;2A5A_HUMAN	Q	213;213;156	.	ENSP00000261461:R213Q	R	+	2	0	0	PPP2R5A	210585832	210585832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.666000	0.98612	2.573000	0.86826	0.491000	0.48974	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_006243			70	69		299	294	1		1	1		0	0	49	0		1	1	0	37	0	124	0	70	299
EIF4G3	8672	broad.mit.edu	37	1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000264211.8	-	8	1461	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A429T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	423					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)			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)		ggaggagaagctggaggagtt	0.527																																						ENST00000264211.8	1.000000	0.840000	1	9.100000e-01	0.960000	0.957574	0.960000	0.990000																										0				70						c.(1267-1269)Gct>Act		eukaryotic translation initiation factor 4 gamma, 3							103.0	98.0	100.0					1																	21268212		2203	4300	6503	SO:0001583	missense	8672	0	0					g.chr1:21268212C>T	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.1267G>A	chr1.hg19:g.21268212C>T	ENSP00000264211:p.Ala423Thr	1					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A429T	p.A423T	NM_003760.4	NP_003751.2	0	1	1	1.828421	O43432	IF4G3_HUMAN		8	1461	-		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)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	1	0	hg19	c.1267G>A	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248320	0.10130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.62	2.7	0.31948	5.62	2.7	0.31948	.	0.540393	0.20858	N	0.084418	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999989	B;B;B;B;B;B	0.12013	0.005;0.003;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.005;0.004;0.003;0.001;0.001	T	0.33879	-0.9851	10	0.24483	T	0.36	-1.3839	8.2271	0.31575	0.0:0.6398:0.1419:0.2183	.	423;618;549;27;429;423	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	T	423;619;423;429;27;549;423;434	ENSP00000264211:A423T;ENSP00000383274:A423T;ENSP00000364073:A429T;ENSP00000444693:A27T;ENSP00000364062:A423T	ENSP00000264211:A423T	A	-	1	0	0	EIF4G3	21140799	21140799	0.105000	0.21958	0.808000	0.32385	0.663000	0.39108	0.121000	0.15667	0.045000	0.15804	-0.797000	0.03246	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.075759	1	0.170000	NM_003760			59	58		415	402	1		1	1		0	0	109	0		1	9.999974e-01	0	16	0	116	0	59	415
EIF4G3	8672	broad.mit.edu	37	1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000264211.8	-	8	1227	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D	EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N351D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	345					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)			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)		GGAATATCATTAGGTGCTACA	0.368																																						ENST00000264211.8	1.000000	0.840000	9.900000e-01	9.000000e-01	0.960000	0.954767	0.960000	0.990000																										0				70						c.(1033-1035)Aat>Gat		eukaryotic translation initiation factor 4 gamma, 3							163.0	160.0	161.0					1																	21268446		2203	4300	6503	SO:0001583	missense	8672	0	0					g.chr1:21268446T>C	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.1033A>G	chr1.hg19:g.21268446T>C	ENSP00000264211:p.Asn345Asp	1					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N351D	p.N345D	NM_003760.4	NP_003751.2	0	1	1	1.828421	O43432	IF4G3_HUMAN		8	1227	-		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)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	1	1	hg19	c.1033A>G	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	T	7.730	0.699011	0.15106	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	6.17	5.03	0.67393	6.17	5.03	0.67393	.	0.349556	0.32578	N	0.005906	T	0.10208	0.0250	N	0.14661	0.345	0.22541	N	0.99901	B;B;B;B;B	0.32467	0.185;0.167;0.372;0.023;0.094	B;B;B;B;B	0.30316	0.049;0.016;0.114;0.01;0.01	T	0.29305	-1.0016	10	0.13470	T	0.59	-2.3801	7.646	0.28321	0.0:0.073:0.3841:0.5429	.	345;540;471;351;345	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	345;541;345;351;471;345;356	ENSP00000264211:N345D;ENSP00000383274:N345D;ENSP00000364073:N351D;ENSP00000364062:N345D	ENSP00000264211:N345D	N	-	1	0	0	EIF4G3	21141033	21141033	0.477000	0.25909	1.000000	0.80357	0.982000	0.71751	0.318000	0.19504	1.134000	0.42165	0.533000	0.62120	AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	1	0	1		2	2	2	0		0	0	181		181	181	1	2.060000	-20.000000	1	0.170000	NM_003760			95	94		812	802	1		1	1		0	0	181	0		1	9.964342e-01	0	4	0	69	0	95	812
EIF4G3	8672	broad.mit.edu	37	1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000264211.8	-	8	1012	c.818C>T	c.(817-819)tCt>tTt	p.S273F	EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S279F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	273					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)			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)		TCGAGCAACAGAAGAAACAGT	0.463																																						ENST00000264211.8	1.000000	0.710000	9.700000e-01	8.000000e-01	0.900000	0.893253	0.900000	0.970000																										0				70						c.(817-819)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							137.0	126.0	130.0					1																	21268661		2203	4300	6503	SO:0001583	missense	8672	0	0					g.chr1:21268661G>A	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.818C>T	chr1.hg19:g.21268661G>A	ENSP00000264211:p.Ser273Phe	1					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S279F	p.S273F	NM_003760.4	NP_003751.2	0	1	1	1.828421	O43432	IF4G3_HUMAN		8	1012	-		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)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	1	1	hg19	c.818C>T	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025039	0.35701	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.226323	0.46442	D	0.000299	T	0.13841	0.0335	N	0.08118	0	0.26073	N	0.981196	P;P;P;B;B	0.48016	0.824;0.608;0.904;0.004;0.162	B;B;P;B;B	0.44811	0.419;0.078;0.461;0.001;0.203	T	0.12066	-1.0562	10	0.59425	D	0.04	-2.8518	11.2797	0.49186	0.0822:0.0:0.9178:0.0	.	273;468;399;279;273	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	273;469;273;279;399;273;284	ENSP00000264211:S273F;ENSP00000383274:S273F;ENSP00000364073:S279F;ENSP00000364062:S273F	ENSP00000264211:S273F	S	-	2	0	0	EIF4G3	21141248	21141248	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	4.328000	0.59253	2.832000	0.97577	0.655000	0.94253	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-14.458650	1	0.170000	NM_003760			50	48		498	482	0		1	1		0	0	107	0		1	9.927607e-01	0	4	0	73	0	50	498
TMEM206	55248	broad.mit.edu	37	1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	296						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		CTCACATCTTGGACTTTCTGG	0.313																																						ENST00000261455.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				17						c.(886-888)Caa>Taa		transmembrane protein 206							62.0	62.0	62.0					1																	212548540		2203	4300	6503	SO:0001587	stop_gained	55248	0	0					g.chr1:212548540G>A	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.886C>T	chr1.hg19:g.212548540G>A	ENSP00000261455:p.Gln296*	1					TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	p.Q296*	NM_018252.2	NP_060722.2	1	3	4	2.193440	Q9H813	TM206_HUMAN		7	1023	-			B7Z4D6|Q6IA87|Q9NV85	Nonsense_Mutation	SNP	ENST00000261455.4	0	1	hg19	c.886C>T	CCDS1504.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.461568	0.96240	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.137522	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.1204	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	296;357	.	ENSP00000261455:Q296X	Q	-	1	0	0	TMEM206	210615163	210615163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.198000	0.51035	2.836000	0.97738	0.655000	0.94253	CAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.807014	1	0.170000	NM_018252			42	41		291	287	1		1	1		0	0	48	0		1	9.998718e-01	0	28	0	67	0	42	291
ATF3	467	broad.mit.edu	37	1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	92	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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 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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GAAAAAGAGGCGACGAGAAAG	0.448																																						ENST00000341491.4	1.000000	0.800000	1	9.500000e-01	0.990000	0.978742	0.990000	1.000000																										0				6						c.(274-276)Cga>Tga		activating transcription factor 3	Pseudoephedrine(DB00852)						136.0	133.0	134.0					1																	212791502		2203	4300	6503	SO:0001587	stop_gained	467	1	121412	20				g.chr1:212791502C>T	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.274C>T	chr1.hg19:g.212791502C>T	ENSP00000344352:p.Arg92*	1					ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*	p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	1	3	4	2.193440	P18847	ATF3_HUMAN		3	539	+			Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Nonsense_Mutation	SNP	ENST00000341491.4	0	1	hg19	c.274C>T	CCDS1506.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769942	0.90020	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937	.	.	.	5.51	3.62	0.41486	5.51	3.62	0.41486	.	0.103434	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5233	14.2137	0.65779	0.4477:0.5523:0.0:0.0	.	.	.	.	X	92;92;92;35;92;63	.	ENSP00000336908:R63X	R	+	1	2	2	ATF3	210858125	210858125	0.803000	0.28956	1.000000	0.80357	0.644000	0.38419	-0.110000	0.10824	0.779000	0.33543	-1.312000	0.01307	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.318793	1	0.170000	NM_001674			40	39		444	438	0		1	0		0	0	131	0		1	9.890967e-01	0	0	0	80	0	40	444
FAM71A	149647	broad.mit.edu	37	1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	328	Ala-rich.					nucleus (GO:0005634)				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)		GGCAACATGGCCCTTGCAGGC	0.617																																						ENST00000294829.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(982-984)gCc>gTc		family with sequence similarity 71, member A							45.0	49.0	48.0					1																	212799202		2203	4300	6503	SO:0001583	missense	149647	0	0					g.chr1:212799202C>T		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.983C>T	chr1.hg19:g.212799202C>T	ENSP00000294829:p.Ala328Val	1					RP11-338C15.5_ENST00000427949.1_RNA	p.A328V	NM_153606.3	NP_705834.2	1	3	4	2.193440	Q8IYT1	FA71A_HUMAN		1	1414	+			Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	1	1	hg19	c.983C>T	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422128	0.25639	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04603	3.59	3.47	1.54	0.23209	3.47	1.54	0.23209	.	.	.	.	.	T	0.04227	0.0117	L	0.51422	1.61	0.09310	N	1	P	0.39809	0.689	B	0.33254	0.16	T	0.39231	-0.9624	9	0.36615	T	0.2	-4.0201	3.9602	0.09407	0.2355:0.6397:0.0:0.1248	.	328	Q8IYT1	FA71A_HUMAN	V	328;103	ENSP00000294829:A328V	ENSP00000294829:A328V	A	+	2	0	0	FAM71A	210865825	210865825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.087000	0.14958	0.431000	0.26258	0.655000	0.94253	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_153606			66	65		175	173	0		1			0	0	52	0		1	0	0	0	0	0	0	66	175
FLVCR1	28982	broad.mit.edu	37	1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	203					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)			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)		TTCTGGGTCACCATGTTGGGC	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(607-609)aCc>aTc		feline leukemia virus subgroup C cellular receptor 1							63.0	52.0	56.0					1																	213032402		2203	4300	6503	SO:0001583	missense	28982	0	0					g.chr1:213032402C>T	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.608C>T	chr1.hg19:g.213032402C>T	ENSP00000355938:p.Thr203Ile	1					FLVCR1-AS1_ENST00000356684.3_lincRNA	p.T203I	NM_014053.3	NP_054772.1	1	3	4	2.193440	Q9Y5Y0	FLVC1_HUMAN		1	806	+			Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	1	1	hg19	c.608C>T	CCDS1510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112425|5.112425	0.94339|0.94339	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.56275	.|0.47	5.5|5.5	5.5|5.5	0.81552|0.81552	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|P	.|0.53722	.|0.733	T|T	0.62388|0.62388	-0.6865|-0.6865	5|10	.|0.07325	.|T	.|0.83	-10.737|-10.737	18.3846|18.3846	0.90463|0.90463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203	.|Q9Y5Y0	.|FLVC1_HUMAN	S|I	49|203	.|ENSP00000355938:T203I	.|ENSP00000355938:T203I	P|T	+|+	1|2	0|0	0|0	FLVCR1|FLVCR1	211099025|211099025	211099025|211099025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.429000|7.429000	0.80309|0.80309	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	CCA|ACC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014053			81	81		232	229	1		1	1		0	0	55	0		1	9.263833e-01	0	8	0	7	0	81	232
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000264211.8	-	3	354	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L61M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					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.L54L(1)|p.L61L(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)		GGCATGGGCAGATGGTTAACC	0.517																																						ENST00000264211.8	0.630000	0.230000	5.200000e-01	3.100000e-01	0.400000	0.421524	0.400000	0.400000																										2	Substitution - coding silent(2)	p.L54L(1)|p.L61L(1)	urinary_tract(2)	70						c.(160-162)Ctg>Atg		eukaryotic translation initiation factor 4 gamma, 3							128.0	107.0	114.0					1																	21307591		2203	4300	6503	SO:0001583	missense	8672	0	0					g.chr1:21307591G>T	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.160C>A	chr1.hg19:g.21307591G>T	ENSP00000264211:p.Leu54Met	1					EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L61M	p.L54M	NM_003760.4	NP_003751.2	0	1	1	1.828421	O43432	IF4G3_HUMAN		3	354	-		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)	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	1	1	hg19	c.160C>A	CCDS214.1	0	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551763	0.65311	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.83	4.92	0.64577	5.83	4.92	0.64577	.	0.163224	0.41938	D	0.000784	T	0.40347	0.1113	L	0.36672	1.1	0.46542	D	0.999097	D;D;D;D;D;D	0.89917	1.0;0.999;0.978;1.0;0.999;0.998	D;D;P;D;D;D	0.91635	0.999;0.997;0.758;0.998;0.997;0.915	T	0.11131	-1.0600	10	0.33141	T	0.24	-7.9326	14.8028	0.69929	0.0693:0.0:0.9307:0.0	.	54;250;54;180;61;54	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	54;251;54;54;61;180;54;65;54;92	ENSP00000264211:L54M;ENSP00000383274:L54M;ENSP00000364071:L54M;ENSP00000364073:L61M;ENSP00000364062:L54M;ENSP00000395381:L54M;ENSP00000396083:L92M	ENSP00000264211:L54M	L	-	1	2	2	EIF4G3	21180178	21180178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.480000	0.60243	1.464000	0.47987	0.555000	0.69702	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-4.129725	1	0.170000	NM_003760			14	14		357	354	0		1	0		0	0	90	0		9.997530e-01	5.429283e-01	0	0	0	46	0	14	357
FLVCR1	28982	broad.mit.edu	37	1	213032418	213032418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	208					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)			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)		TGGGCCAGTGCTTGTGCTCGG	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(622-624)tgC>tgT		feline leukemia virus subgroup C cellular receptor 1							66.0	55.0	58.0					1																	213032418		2203	4300	6503	SO:0001819	synonymous_variant	28982	0	0					g.chr1:213032418C>T	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.624C>T	chr1.hg19:g.213032418C>T		1					FLVCR1-AS1_ENST00000356684.3_lincRNA	p.C208C	NM_014053.3	NP_054772.1	1	3	4	2.193440	Q9Y5Y0	FLVC1_HUMAN		1	822	+			Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	1	1	hg19	c.624C>T	CCDS1510.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632584	0.29068	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	2.5	0.30297	5.5	2.5	0.30297	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-19.1226	7.0555	0.25097	0.0:0.5941:0.2596:0.1463	.	.	.	.	V	54	.	.	A	+	2	0	0	FLVCR1	211099041	211099041	0.000000	0.05858	0.974000	0.42286	0.989000	0.77384	-0.401000	0.07232	0.685000	0.31468	0.655000	0.94253	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014053			65	65		240	238	1		1	1		0	0	55	0		1	8.818221e-01	0	2	0	14	0	65	240
ANGEL2	90806	broad.mit.edu	37	1	213186643	213186643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463																																						ENST00000366962.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995788	0.990000	1.000000																										0				24						c.(175-177)ggA>ggG		angel homolog 2 (Drosophila)							162.0	156.0	158.0					1																	213186643		2203	4300	6503	SO:0001819	synonymous_variant	90806	0	0					g.chr1:213186643T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.177A>G	chr1.hg19:g.213186643T>C		1					ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	p.G59G	NM_144567.3	NP_653168.2	1	3	4	2.193440	Q5VTE6	ANGE2_HUMAN		2	331	-			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	1	1	hg19	c.177A>G	CCDS1512.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-18.944630	1	0.170000	NM_144567			76	74		786	770	0		1	1		0	0	143	0		1	9.550344e-01	0	4	0	50	0	76	786
RPS6KC1	26750	broad.mit.edu	37	1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	896	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)			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)		ATTAGCACTAGCCTCCAGGTT	0.453																																						ENST00000366960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2686-2688)Gcc>Tcc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							81.0	85.0	83.0					1																	213415505		2203	4300	6503	SO:0001583	missense	26750	0	0					g.chr1:213415505G>T	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.2686G>T	chr1.hg19:g.213415505G>T	ENSP00000355927:p.Ala896Ser	1					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S	p.A896S	NM_012424.3	NP_036556.2	1	3	4	2.193440	Q96S38	KS6C1_HUMAN		11	2836	+			B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	1	1	hg19	c.2686G>T	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904641	0.02453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.91	4.77	0.60923	5.91	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.528388	0.23014	N	0.052921	T	0.40322	0.1112	N	0.19112	0.55	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	0.27640	-1.0068	10	0.10902	T	0.67	-21.3125	6.305	0.21133	0.7318:0.1345:0.1337:0.0	.	684;896;884	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	684;896;884;599	ENSP00000442306:A684S;ENSP00000355927:A896S;ENSP00000355926:A884S;ENSP00000439282:A599S	ENSP00000355926:A884S	A	+	1	0	0	RPS6KC1	211482128	211482128	0.061000	0.20836	0.057000	0.19452	0.939000	0.58152	2.481000	0.45215	0.471000	0.27319	-0.254000	0.11334	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_012424			147	143		374	368	1		1	1		0	0	87	0		1	1	0	21	0	51	0	147	374
PROX1	5629	broad.mit.edu	37	1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S|PROX1_ENST00000435016.1_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	88					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483																																						ENST00000366958.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(262-264)Cca>Tca		prospero homeobox 1							86.0	83.0	84.0					1																	214170140		2203	4300	6503	SO:0001583	missense	5629	0	0					g.chr1:214170140C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.262C>T	chr1.hg19:g.214170140C>T	ENSP00000355925:p.Pro88Ser	1					PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S	p.P88S	NM_001270616.1	NP_001257545.1	1	3	4	2.193440	Q92786	PROX1_HUMAN		2	870	+			A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	1	1	hg19	c.262C>T	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671909	0.29693	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B	0.27166	0.17	B	0.34536	0.185	T	0.11470	-1.0586	10	0.20046	T	0.44	-2.4481	20.3627	0.98863	0.0:1.0:0.0:0.0	.	88	Q92786	PROX1_HUMAN	S	88	ENSP00000419517:P88S;ENSP00000420283:P88S;ENSP00000355925:P88S;ENSP00000400694:P88S;ENSP00000261454:P88S	ENSP00000261454:P88S	P	+	1	0	0	PROX1	212236763	212236763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	2.885000	0.99019	0.655000	0.94253	CCA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_002763			61	58		371	364	1		1	0		0	0	60	0		1	3.739514e-01	0	0	0	9	0	61	371
PROX1	5629	broad.mit.edu	37	1	214170468	214170468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170468C>A	ENST00000366958.4	+	2	1198	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	PROX1_ENST00000261454.4_Missense_Mutation_p.S197Y|PROX1_ENST00000498508.2_Missense_Mutation_p.S197Y|PROX1_ENST00000435016.1_Missense_Mutation_p.S197Y	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	197					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCCCCGCAGTCTGTGAGTCCC	0.512																																						ENST00000366958.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				47						c.(589-591)tCt>tAt		prospero homeobox 1							45.0	50.0	48.0					1																	214170468		2203	4300	6503	SO:0001583	missense	5629	0	0					g.chr1:214170468C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.590C>A	chr1.hg19:g.214170468C>A	ENSP00000355925:p.Ser197Tyr	1					PROX1_ENST00000261454.4_Missense_Mutation_p.S197Y|PROX1_ENST00000435016.1_Missense_Mutation_p.S197Y|PROX1_ENST00000498508.2_Missense_Mutation_p.S197Y	p.S197Y	NM_001270616.1	NP_001257545.1	1	3	4	2.193440	Q92786	PROX1_HUMAN		2	1198	+			A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	1	0	hg19	c.590C>A	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327179	0.60743	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.355134	0.34802	N	0.003664	T	0.30262	0.0759	N	0.22421	0.69	0.58432	D	0.999999	P	0.49253	0.921	P	0.48952	0.596	T	0.01360	-1.1375	10	0.59425	D	0.04	-3.0309	20.6593	0.99626	0.0:1.0:0.0:0.0	.	197	Q92786	PROX1_HUMAN	Y	197	ENSP00000420283:S197Y;ENSP00000355925:S197Y;ENSP00000400694:S197Y;ENSP00000261454:S197Y	ENSP00000261454:S197Y	S	+	2	0	0	PROX1	212237091	212237091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.763000	0.62257	2.885000	0.99019	0.655000	0.94253	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_002763			49	48		315	310	0		1	1		0	0	74	0		1	4.461152e-01	0	3	0	4	0	49	315
PROX1	5629	broad.mit.edu	37	1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G|PROX1_ENST00000435016.1_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	285					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512																																						ENST00000366958.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(853-855)gAt>gGt		prospero homeobox 1							65.0	67.0	67.0					1																	214170732		2203	4300	6503	SO:0001583	missense	5629	0	0					g.chr1:214170732A>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.854A>G	chr1.hg19:g.214170732A>G	ENSP00000355925:p.Asp285Gly	1					PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G	p.D285G	NM_001270616.1	NP_001257545.1	1	3	4	2.193440	Q92786	PROX1_HUMAN		2	1462	+			A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	1	1	hg19	c.854A>G	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951668	0.18431	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.646468	0.17515	N	0.171458	T	0.42223	0.1193	L	0.43152	1.355	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.21381	-1.0247	10	0.21540	T	0.41	-0.4293	16.0486	0.80740	1.0:0.0:0.0:0.0	.	285	Q92786	PROX1_HUMAN	G	285	ENSP00000420283:D285G;ENSP00000355925:D285G;ENSP00000400694:D285G;ENSP00000261454:D285G	ENSP00000261454:D285G	D	+	2	0	0	PROX1	212237355	212237355	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	7.327000	0.79147	2.183000	0.69458	0.533000	0.62120	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_002763			81	80		250	242	1		1	1		0	0	72	0		1	9.102324e-01	0	7	0	8	0	81	250
PROX1	5629	broad.mit.edu	37	1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V|PROX1_ENST00000435016.1_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	424					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582																																						ENST00000366958.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1270-1272)Ttt>Gtt		prospero homeobox 1							100.0	101.0	101.0					1																	214171148		2203	4300	6503	SO:0001583	missense	5629	0	0					g.chr1:214171148T>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1270T>G	chr1.hg19:g.214171148T>G	ENSP00000355925:p.Phe424Val	1					PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V	p.F424V	NM_001270616.1	NP_001257545.1	1	3	4	2.193440	Q92786	PROX1_HUMAN		2	1878	+			A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	1	1	hg19	c.1270T>G	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974146	0.53720	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.094831	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.64132	-0.6479	10	0.32370	T	0.25	-2.9139	15.4822	0.75537	0.0:0.0:0.0:1.0	.	424	Q92786	PROX1_HUMAN	V	424	ENSP00000420283:F424V;ENSP00000355925:F424V;ENSP00000400694:F424V;ENSP00000261454:F424V	ENSP00000261454:F424V	F	+	1	0	0	PROX1	212237771	212237771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.060000	0.61445	0.482000	0.46254	TTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-20.000000	1	0.170000	NM_002763			174	171		564	551	1		1	1		0	0	135	0		1	9.183372e-01	0	8	0	8	0	174	564
SMYD2	56950	broad.mit.edu	37	1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	212	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000366957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(634-636)aAt>aCt		SET and MYND domain containing 2							144.0	138.0	140.0					1																	214500997		2203	4300	6503	SO:0001583	missense	56950	0	0					g.chr1:214500997A>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.635A>C	chr1.hg19:g.214500997A>C	ENSP00000355924:p.Asn212Thr	1		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	p.N212T	NM_020197.2	NP_064582.2	1	3	4	2.193440	Q9NRG4	SMYD2_HUMAN		7	657	+			B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	1	1	hg19	c.635A>C	CCDS31022.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927365	0.52759	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.90676	-2.71;-2.71	5.84	4.71	0.59529	5.84	4.71	0.59529	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.76328	2.33	0.58432	D	0.999998	P;D	0.59357	0.883;0.985	P;P	0.58970	0.718;0.849	D	0.93210	0.6599	10	0.62326	D	0.03	-3.1334	11.9764	0.53094	0.932:0.0:0.068:0.0	.	212;196	Q9NRG4;Q05C86	SMYD2_HUMAN;.	T	212	ENSP00000355924:N212T;ENSP00000388682:N212T	ENSP00000355924:N212T	N	+	2	0	0	SMYD2	212567620	212567620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.838000	0.75359	1.027000	0.39758	0.533000	0.62120	AAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	1	0	0		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_020197			80	76		445	437	1		1	1		0	0	116	0		1	9.999984e-01	0	37	0	70	0	80	445
SMYD2	56950	broad.mit.edu	37	1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	rs140909791	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	232	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	C|||	5	0.000998403	0.0	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0051					ENST00000366957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(694-696)cCg>cTg		SET and MYND domain containing 2							92.0	92.0	92.0					1																	214501057		2203	4300	6503	SO:0001583	missense	56950	43	121412	46				g.chr1:214501057C>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.695C>T	chr1.hg19:g.214501057C>T	ENSP00000355924:p.Pro232Leu	1		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	p.P232L	NM_020197.2	NP_064582.2	1	3	4	2.193440	Q9NRG4	SMYD2_HUMAN		7	717	+			B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	1	1	hg19	c.695C>T	CCDS31022.1	1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570763	0.65765	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.82803	-1.65;-1.65	5.64	5.64	0.86602	5.64	5.64	0.86602	SET domain (3);	0.048193	0.85682	D	0.000000	D	0.86326	0.5906	L	0.45285	1.41	0.80722	D	1	P;D	0.89917	0.828;1.0	B;P	0.58210	0.177;0.835	D	0.84064	0.0376	10	0.32370	T	0.25	0.2157	19.6851	0.95977	0.0:1.0:0.0:0.0	.	232;216	Q9NRG4;Q05C86	SMYD2_HUMAN;.	L	232	ENSP00000355924:P232L;ENSP00000388682:P232L	ENSP00000355924:P232L	P	+	2	0	0	SMYD2	212567680	212567680	1.000000	0.71417	0.338000	0.25549	0.881000	0.50899	7.449000	0.80643	2.645000	0.89757	0.655000	0.94253	CCG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	1	0	0		2	2	2	0		0	0	79		79	77	1	2.060000	-3.140533	1	0.170000	NM_020197			62	61		275	270	1		1	1		0	0	79	0		1	1	0	19	0	131	0	62	275
PTPN14	5784	broad.mit.edu	37	1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1008	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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)		CTCTGCAGTGACCATGGCAAT	0.572																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3022-3024)gTc>gCc		protein tyrosine phosphatase, non-receptor type 14							156.0	138.0	144.0					1																	214546067		2203	4300	6503	SO:0001583	missense	5784	0	0					g.chr1:214546067A>G	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.3023T>C	chr1.hg19:g.214546067A>G	ENSP00000355923:p.Val1008Ala	1					PTPN14_ENST00000543945.1_3'UTR	p.V1008A	NM_005401.4	NP_005392.2	1	3	4	2.193440	Q15678	PTN14_HUMAN		16	3217	-			Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	1	1	hg19	c.3023T>C	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012882	0.75161	.	.	ENSG00000152104	ENST00000366956	T	0.14266	2.52	5.4	5.4	0.78164	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.063634	0.64402	D	0.000007	T	0.31136	0.0787	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.01532	-1.1331	10	0.62326	D	0.03	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	1008	Q15678	PTN14_HUMAN	A	1008	ENSP00000355923:V1008A	ENSP00000355923:V1008A	V	-	2	0	0	PTPN14	212612690	212612690	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	GTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_005401			119	116		555	549	1		1	1		0	0	132	0		1	9.945428e-01	0	9	0	29	0	119	555
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	657					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)			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)		GCGACTTGAGCGTCATGGCCT	0.682																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1969-1971)acG>acA		protein tyrosine phosphatase, non-receptor type 14							51.0	45.0	47.0					1																	214557227		2203	4300	6503	SO:0001819	synonymous_variant	5784	5	121410	33				g.chr1:214557227C>T	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.1971G>A	chr1.hg19:g.214557227C>T		1					PTPN14_ENST00000543945.1_3'UTR	p.T657T	NM_005401.4	NP_005392.2	1	3	4	2.193440	Q15678	PTN14_HUMAN		13	2165	-			Q5VSI0	Silent	SNP	ENST00000366956.5	1	1	hg19	c.1971G>A	CCDS1514.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	0		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_005401			41	41		220	217	1		1	1		0	0	35	0		1	9.772960e-01	0	10	0	25	0	41	220
PTPN14	5784	broad.mit.edu	37	1	214575046	214575046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214575046C>A	ENST00000366956.5	-	7	845	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	217	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)			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)		GGAAGATTTCCTGTCCAAATC	0.428																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5	1.000000	0.110000	1	1.600000e-01	0.220000	0.390105	0.220000	0.200000																										0				58						c.(649-651)caG>caT		protein tyrosine phosphatase, non-receptor type 14							192.0	189.0	190.0					1																	214575046		2203	4300	6503	SO:0001583	missense	5784	0	0					g.chr1:214575046C>A	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.651G>T	chr1.hg19:g.214575046C>A	ENSP00000355923:p.Gln217His	1					PTPN14_ENST00000543945.1_Intron	p.Q217H	NM_005401.4	NP_005392.2	1	3	4	2.193440	Q15678	PTN14_HUMAN		7	845	-			Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	0	1	hg19	c.651G>T	CCDS1514.1	0	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180272	0.78677	.	.	ENSG00000152104	ENST00000366956	T	0.77750	-1.12	5.28	5.28	0.74379	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.85252	0.1045	10	0.33940	T	0.23	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	217	Q15678	PTN14_HUMAN	H	217	ENSP00000355923:Q217H	ENSP00000355923:Q217H	Q	-	3	2	2	PTPN14	212641669	212641669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	2.469000	0.83416	0.557000	0.71058	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	0	0	1		2	2	2	0		0	0	152		152	152	1	2.060000	-2.182299	0	0.170000	NM_005401			13	12		830	814	0		1	0		0	0	152	0		9.994635e-01	9.578527e-02	0	0	0	31	0	13	830
CENPF	1063	broad.mit.edu	37	1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		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)			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)		CTTGCATGCCGAATATGAGAG	0.428																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3	1.000000	0.530000	1	6.900000e-01	0.920000	0.871338	0.920000	1.000000																										0				126						c.(2275-2277)Gaa>Aaa		centromere protein F, 350/400kDa							53.0	54.0	54.0					1																	214813956		2203	4300	6503	SO:0001583	missense	1063	1	121412	27				g.chr1:214813956G>A	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.2275G>A	chr1.hg19:g.214813956G>A	ENSP00000355922:p.Glu759Lys	1						p.E759K	NM_016343.3	NP_057427.3	1	3	4	2.193440	P49454	CENPF_HUMAN		12	2443	+			Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	1	1	hg19	c.2275G>A	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000117724	ENST00000366955	T	0.05447	3.44	5.59	3.6	0.41247	5.59	3.6	0.41247	.	0.000000	0.38897	N	0.001534	T	0.16981	0.0408	.	.	.	0.26475	N	0.975212	D	0.76494	0.999	P	0.61592	0.891	T	0.01635	-1.1307	9	0.48119	T	0.1	.	11.1868	0.48662	0.0766:0.2134:0.71:0.0	.	759	P49454	CENPF_HUMAN	K	759	ENSP00000355922:E759K	ENSP00000355922:E759K	E	+	1	0	0	CENPF	212880579	212880579	0.726000	0.28059	0.045000	0.18777	0.323000	0.28346	1.106000	0.31098	1.372000	0.46190	-0.192000	0.12808	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.075589	1	0.170000	NM_016343			17	17		249	243	0		1	1		0	0	49	0		9.999632e-01	3.888941e-01	0	3	0	17	0	17	249
CENPF	1063	broad.mit.edu	37	1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		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)			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)		GCAGTCACAAGAAATTAGTGG	0.413																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(3769-3771)Gaa>Taa		centromere protein F, 350/400kDa							49.0	49.0	49.0					1																	214815450		2203	4300	6503	SO:0001587	stop_gained	1063	0	0					g.chr1:214815450G>T	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.3769G>T	chr1.hg19:g.214815450G>T	ENSP00000355922:p.Glu1257*	1						p.E1257*	NM_016343.3	NP_057427.3	1	3	4	2.193440	P49454	CENPF_HUMAN		12	3937	+			Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	0	1	hg19	c.3769G>T	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.554706	0.98861	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.195742	0.25313	N	0.031574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.3469	0.49565	0.0836:0.0:0.9164:0.0	.	.	.	.	X	1257	.	ENSP00000355922:E1257X	E	+	1	0	0	CENPF	212882073	212882073	0.660000	0.27420	0.877000	0.34402	0.312000	0.27988	2.472000	0.45136	2.414000	0.81942	0.511000	0.50034	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_016343			52	51		297	290	1		1	0		0	0	60	0		1	6.793244e-01	0	1	0	14	0	52	297
CENPF	1063	broad.mit.edu	37	1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1950					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)			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)		GTGATCACCAGGAGTTACTCC	0.343																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(5560-5562)caG>caT		centromere protein F, 350/400kDa							37.0	40.0	39.0					1																	214818475		2202	4299	6501	SO:0001583	missense	1063	0	0					g.chr1:214818475G>T	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.5562G>T	chr1.hg19:g.214818475G>T	ENSP00000355922:p.Gln1854His	1						p.Q1854H	NM_016343.3	NP_057427.3	1	3	4	2.193440	P49454	CENPF_HUMAN		13	5730	+			Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	1	1	hg19	c.5562G>T	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183245	0.06340	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.91	0.0819	0.14426	4.91	0.0819	0.14426	.	1.540600	0.04574	N	0.393769	T	0.05593	0.0147	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.43556	-0.9384	10	0.51188	T	0.08	.	5.1055	0.14781	0.1513:0.1171:0.6118:0.1198	.	1950	P49454	CENPF_HUMAN	H	1854	ENSP00000355922:Q1854H	ENSP00000355922:Q1854H	Q	+	3	2	2	CENPF	212885098	212885098	0.994000	0.37717	0.008000	0.14137	0.207000	0.24258	0.915000	0.28638	0.101000	0.17610	0.609000	0.83330	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_016343			56	55		236	231	1		1	0		0	0	47	0		1	4.038022e-01	0	0	0	7	0	56	236
ECE1	1889	broad.mit.edu	37	1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000374893.6	-	16	1890	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_ENST00000415912.2_Missense_Mutation_p.G590S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	606					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)			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)		AGCTCATGGCCCACGACGACA	0.507																																						ENST00000374893.6	0.940000	0.430000	8.300000e-01	5.500000e-01	0.680000	0.696078	0.680000	0.680000																										0				25						c.(1816-1818)Ggc>Agc		endothelin converting enzyme 1							156.0	126.0	136.0					1																	21553685		2203	4300	6503	SO:0001583	missense	1889	0	0					g.chr1:21553685C>T	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.1816G>A	chr1.hg19:g.21553685C>T	ENSP00000364028:p.Gly606Ser	1					ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000415912.2_Missense_Mutation_p.G590S	p.G606S	NM_001397.2	NP_001388.1	0	1	1	1.828421	P42892	ECE1_HUMAN		16	1890	-		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)	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	1	1	hg19	c.1816G>A	CCDS215.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.427961	0.96131	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.15	5.15	0.70609	5.15	5.15	0.70609	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.93854	3.465	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;0.997;0.999;0.991;0.995	D	0.96328	0.9241	10	0.87932	D	0	-35.2293	17.5678	0.87924	0.0:1.0:0.0:0.0	.	606;590;606;594;603	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	590;594;606;606;603	ENSP00000405088:G590S;ENSP00000349581:G594S;ENSP00000364028:G606S;ENSP00000388439:G606S;ENSP00000264205:G603S	ENSP00000264205:G603S	G	-	1	0	0	ECE1	21426272	21426272	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.412000	0.80091	2.556000	0.86216	0.555000	0.69702	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	0	0	1		11	13	2	1		1	1	107		107	106	1	2.060000	-2.966682	1	0.170000	NM_001397			20	20		287	272	1		1	1		1	0	107	0		9.557234e-01	9.787359e-01	0	52	0	325	0	20	287
CENPF	1063	broad.mit.edu	37	1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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)			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)		TCATTTAAAAGTCTGTTAGAA	0.358																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(6712-6714)aGt>aAt		centromere protein F, 350/400kDa							61.0	69.0	66.0					1																	214819626		2203	4300	6503	SO:0001583	missense	1063	0	0					g.chr1:214819626G>A	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.6713G>A	chr1.hg19:g.214819626G>A	ENSP00000355922:p.Ser2238Asn	1						p.S2238N	NM_016343.3	NP_057427.3	1	3	4	2.193440	P49454	CENPF_HUMAN		13	6881	+			Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	1	1	hg19	c.6713G>A	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285247	0.05605	.	.	ENSG00000117724	ENST00000366955	T	0.38240	1.15	4.69	0.0956	0.14486	4.69	0.0956	0.14486	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.977676	0.08333	N	0.962002	T	0.11024	0.0269	N	0.01091	-1.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.13108	T	0.6	.	5.9842	0.19423	0.3633:0.1349:0.5019:0.0	.	2334	P49454	CENPF_HUMAN	N	2238	ENSP00000355922:S2238N	ENSP00000355922:S2238N	S	+	2	0	0	CENPF	212886249	212886249	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.053000	0.14184	-0.155000	0.11098	-0.414000	0.06135	AGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_016343			69	69		375	367	1		1	0		0	0	75	0		1	7.658842e-01	0	1	0	16	0	69	375
KCTD3	51133	broad.mit.edu	37	1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	317					protein homooligomerization (GO:0051260)					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)		AGATGTTGTTCCTATAACTAG	0.328																																						ENST00000259154.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(949-951)Cct>Act		potassium channel tetramerization domain containing 3							100.0	93.0	95.0					1																	215775224		2203	4299	6502	SO:0001583	missense	51133	0	0					g.chr1:215775224C>A	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.949C>A	chr1.hg19:g.215775224C>A	ENSP00000259154:p.Pro317Thr	1						p.P317T	NM_016121.3	NP_057205.2	1	3	4	2.193440	Q9Y597	KCTD3_HUMAN		11	1243	+			A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	1	1	hg19	c.949C>A	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361649	0.82353	.	.	ENSG00000136636	ENST00000259154	T	0.06768	3.26	5.52	5.52	0.82312	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;1.0;0.996	D;P;D;P	0.79108	0.964;0.813;0.992;0.885	T	0.00923	-1.1513	10	0.56958	D	0.05	-26.1819	18.4266	0.90611	0.0:1.0:0.0:0.0	.	69;69;317;317	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	317	ENSP00000259154:P317T	ENSP00000259154:P317T	P	+	1	0	0	KCTD3	213841847	213841847	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.487000	0.81328	2.600000	0.87896	0.467000	0.42956	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.216632	1	0.170000	NM_016121			48	48		227	220	1		1	1		0	0	60	0		1	9.999995e-01	0	24	0	82	0	48	227
KCTD3	51133	broad.mit.edu	37	1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	709					protein homooligomerization (GO:0051260)					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)		ATATCTGAGAGAAAGTCTCCT	0.383																																						ENST00000259154.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2125-2127)aGa>aAa		potassium channel tetramerization domain containing 3							69.0	75.0	73.0					1																	215793638		2203	4297	6500	SO:0001583	missense	51133	0	0					g.chr1:215793638G>A	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.2126G>A	chr1.hg19:g.215793638G>A	ENSP00000259154:p.Arg709Lys	1					KCTD3_ENST00000495537.1_3'UTR	p.R709K	NM_016121.3	NP_057205.2	1	3	4	2.193440	Q9Y597	KCTD3_HUMAN		18	2420	+			A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	1	1	hg19	c.2126G>A	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181628	0.21787	.	.	ENSG00000136636	ENST00000259154	T	0.36340	1.26	5.81	4.71	0.59529	5.81	4.71	0.59529	.	0.255861	0.42548	D	0.000685	T	0.19725	0.0474	N	0.16307	0.4	0.30987	N	0.721812	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.11179	-1.0598	10	0.10902	T	0.67	-24.209	10.4541	0.44539	0.1984:0.0:0.8016:0.0	.	459;461;707;709	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	K	709	ENSP00000259154:R709K	ENSP00000259154:R709K	R	+	2	0	0	KCTD3	213860261	213860261	0.962000	0.33011	0.952000	0.39060	0.951000	0.60555	1.038000	0.30254	2.750000	0.94351	0.655000	0.94253	AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_016121			130	127		379	371	1		1	1		0	0	76	0		1	1	0	55	0	152	0	130	379
KCTD3	51133	broad.mit.edu	37	1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	744					protein homooligomerization (GO:0051260)					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)		AAGGTCATCAGAAGATGAAAA	0.378																																						ENST00000259154.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2230-2232)Gaa>Taa		potassium channel tetramerization domain containing 3							63.0	68.0	66.0					1																	215793742		2198	4297	6495	SO:0001587	stop_gained	51133	0	0					g.chr1:215793742G>T	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.2230G>T	chr1.hg19:g.215793742G>T	ENSP00000259154:p.Glu744*	1					KCTD3_ENST00000495537.1_3'UTR	p.E744*	NM_016121.3	NP_057205.2	1	3	4	2.193440	Q9Y597	KCTD3_HUMAN		18	2524	+			A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	0	1	hg19	c.2230G>T	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.094347	0.99064	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	4.9	0.64082	5.81	4.9	0.64082	.	0.468579	0.24403	N	0.038832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.727	14.6228	0.68599	0.0697:0.0:0.9303:0.0	.	.	.	.	X	744	.	ENSP00000259154:E744X	E	+	1	0	0	KCTD3	213860365	213860365	1.000000	0.71417	0.819000	0.32651	0.993000	0.82548	8.169000	0.89672	1.456000	0.47831	0.655000	0.94253	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_016121			114	114		401	394	1		1	1		0	0	76	0		1	1	0	39	0	132	0	114	401
USH2A	7399	broad.mit.edu	37	1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000307340.3	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5014					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTCCAGTAGAGGTATCATA	0.398										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(15040-15042)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							232.0	232.0	232.0					1																	215812508		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:215812508G>A	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.15041C>T	chr1.hg19:g.215812508G>A	ENSP00000305941:p.Ser5014Phe	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	p.S5014F	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		69	15427	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.15041C>T	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255912	0.39896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.2	3.2	0.36748	5.2	3.2	0.36748	Fibronectin, type III (1);	0.641375	0.12801	U	0.438029	T	0.23330	0.0564	M	0.63428	1.95	0.09310	N	1	D	0.56521	0.976	P	0.48030	0.564	T	0.11792	-1.0573	10	0.48119	T	0.1	.	15.9808	0.80108	0.0:0.3703:0.6297:0.0	.	5014	O75445	USH2A_HUMAN	F	5014	ENSP00000305941:S5014F;ENSP00000355910:S5014F	ENSP00000305941:S5014F	S	-	2	0	0	USH2A	213879131	213879131	0.194000	0.23325	0.015000	0.15790	0.374000	0.29953	2.955000	0.49121	1.176000	0.42840	0.655000	0.94253	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	196		196	194	1	2.060000	-20.000000	1	0.170000	NM_007123			240	235		742	734	1		1			0	0	196	0		1	0	0	0	0	0	0	240	742
USH2A	7399	broad.mit.edu	37	1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000307340.3	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34. {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)			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)		CCACTCGGAAGCCGTACTGCC	0.542										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.500000	1	6.400000e-01	0.840000	0.834399	0.840000	1.000000																										0				527						c.(14755-14757)gCt>gAt		Usher syndrome 2A (autosomal recessive, mild)							97.0	79.0	85.0					1																	215820899		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:215820899G>T	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.14756C>A	chr1.hg19:g.215820899G>T	ENSP00000305941:p.Ala4919Asp	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	p.A4919D	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		67	15142	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.14756C>A	CCDS31025.1	0	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468541	0.84533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.62	4.71	0.59529	5.62	4.71	0.59529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159701	0.28889	N	0.013817	T	0.71143	0.3305	M	0.82517	2.595	0.54753	D	0.99998	D	0.56968	0.978	D	0.63283	0.913	T	0.72544	-0.4261	10	0.34782	T	0.22	.	14.2275	0.65871	0.0719:0.0:0.9281:0.0	.	4919	O75445	USH2A_HUMAN	D	4919	ENSP00000305941:A4919D;ENSP00000355910:A4919D	ENSP00000305941:A4919D	A	-	2	0	0	USH2A	213887522	213887522	1.000000	0.71417	0.644000	0.29465	0.966000	0.64601	5.161000	0.64935	1.385000	0.46445	0.650000	0.86243	GCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.986830	1	0.170000	NM_007123			19	19		302	299	0		1			0	0	56	0		9.999910e-01	0	0	0	0	0	0	19	302
USH2A	7399	broad.mit.edu	37	1	215844619	215844619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215844619G>A	ENST00000307340.3	-	64	14214	c.13828C>T	c.(13828-13830)Caa>Taa	p.Q4610*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4610*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4610	Fibronectin type-III 31. {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)			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)		GTGCACGCTTGAATTCGTATT	0.428										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.150000	1	2.400000e-01	0.370000	0.491094	0.370000	0.320000																										0				527						c.(13828-13830)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							83.0	82.0	82.0					1																	215844619		2203	4300	6503	SO:0001587	stop_gained	7399	0	0					g.chr1:215844619G>A	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.13828C>T	chr1.hg19:g.215844619G>A	ENSP00000305941:p.Gln4610*	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4610*	p.Q4610*	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		64	14214	-			Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	0	1	hg19	c.13828C>T	CCDS31025.1	0	.	.	.	.	.	.	.	.	.	.	G	56	26.069887	0.99967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.94	4.01	0.46588	4.94	4.01	0.46588	.	0.000000	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1318	0.65260	0.0:0.286:0.714:0.0	.	.	.	.	X	4610	.	ENSP00000305941:Q4610X	Q	-	1	0	0	USH2A	213911242	213911242	1.000000	0.71417	0.883000	0.34634	0.818000	0.46254	3.830000	0.55768	1.179000	0.42884	0.650000	0.86243	CAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-3.486512	1	0.170000	NM_007123			8	8		327	320	0		1			0	0	71	0		9.886456e-01	0	0	0	0	0	0	8	327
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000374893.6	-	6	759	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000415912.2_Missense_Mutation_p.A213T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	229					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)			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)		CGGTAGTGGGCGGTGACCACC	0.597																																						ENST00000374893.6	1.000000	0.620000	9.600000e-01	7.500000e-01	0.870000	0.859496	0.870000	0.950000																										0				25						c.(685-687)Gcc>Acc		endothelin converting enzyme 1							191.0	148.0	163.0					1																	21585263		2203	4300	6503	SO:0001583	missense	1889	0	0					g.chr1:21585263C>T	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.685G>A	chr1.hg19:g.21585263C>T	ENSP00000364028:p.Ala229Thr	1					ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000415912.2_Missense_Mutation_p.A213T|ECE1_ENST00000528294.1_5'Flank	p.A229T	NM_001397.2	NP_001388.1	0	1	1	1.828421	P42892	ECE1_HUMAN		6	759	-		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)	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	1	1	hg19	c.685G>A	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886033	0.51908	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.1	3.15	0.36227	5.1	3.15	0.36227	Peptidase M13 (1);	0.157018	0.56097	N	0.000028	T	0.65770	0.2723	L	0.50333	1.59	0.53688	D	0.999975	B;B;B;B;B	0.22146	0.031;0.065;0.033;0.015;0.053	B;B;B;B;B	0.21151	0.022;0.02;0.033;0.012;0.019	T	0.60762	-0.7199	10	0.59425	D	0.04	-26.2798	8.0527	0.30587	0.1784:0.7349:0.0:0.0867	.	229;213;229;217;226	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	T	213;217;229;229;226	ENSP00000405088:A213T;ENSP00000349581:A217T;ENSP00000364028:A229T;ENSP00000388439:A229T;ENSP00000264205:A226T	ENSP00000264205:A226T	A	-	1	0	0	ECE1	21457850	21457850	0.994000	0.37717	0.627000	0.29227	0.757000	0.42996	3.234000	0.51320	0.472000	0.27344	0.591000	0.81541	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-9.889962	1	0.170000	NM_001397			27	26		269	262	1		1	1		0	0	55	0		1	1	0	33	0	257	0	27	269
USH2A	7399	broad.mit.edu	37	1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000307340.3	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4364	Fibronectin type-III 29. {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)			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)		ACGGCCCAAAGATCTGGAGGG	0.473										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(13090-13092)Ctt>Ttt		Usher syndrome 2A (autosomal recessive, mild)							54.0	55.0	55.0					1																	215848163		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:215848163G>A	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.13090C>T	chr1.hg19:g.215848163G>A	ENSP00000305941:p.Leu4364Phe	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	p.L4364F	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		63	13476	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.13090C>T	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353439	0.41700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205043	0.23971	U	0.042762	T	0.60104	0.2243	L	0.55990	1.75	0.09310	N	0.999996	D	0.55385	0.971	P	0.62298	0.9	T	0.51865	-0.8651	10	0.22706	T	0.39	.	8.7583	0.34658	0.0795:0.1522:0.7683:0.0	.	4364	O75445	USH2A_HUMAN	F	4364	ENSP00000305941:L4364F;ENSP00000355910:L4364F	ENSP00000305941:L4364F	L	-	1	0	0	USH2A	213914786	213914786	0.956000	0.32656	0.016000	0.15963	0.471000	0.32888	2.023000	0.41040	2.384000	0.81235	0.467000	0.42956	CTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_007123			74	71		275	272	1		1			0	0	52	0		1	0	0	0	0	0	0	74	275
USH2A	7399	broad.mit.edu	37	1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000307340.3	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3406	Fibronectin type-III 19. {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)			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)		GGCTTCCATAGATGCTGGGCA	0.468										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(10216-10218)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							70.0	65.0	66.0					1																	215960182		2203	4300	6503	SO:0001583	missense	7399	2	121396	31				g.chr1:215960182G>A	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.10217C>T	chr1.hg19:g.215960182G>A	ENSP00000305941:p.Ser3406Phe	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	p.S3406F	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		52	10603	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.10217C>T	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664031	0.47572	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17854	2.26;2.25	4.88	3.97	0.46021	4.88	3.97	0.46021	Fibronectin, type III (3);	0.508801	0.16482	N	0.212481	T	0.28632	0.0709	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.09079	-1.0691	10	0.87932	D	0	.	11.7406	0.51790	0.0823:0.0:0.9177:0.0	.	3406	O75445	USH2A_HUMAN	F	3406	ENSP00000305941:S3406F;ENSP00000355910:S3406F	ENSP00000305941:S3406F	S	-	2	0	0	USH2A	214026805	214026805	0.296000	0.24398	0.001000	0.08648	0.490000	0.33462	3.445000	0.52921	1.037000	0.40024	-0.126000	0.14955	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	45		45	39	1	2.060000	-20.000000	1	0.170000	NM_007123			46	41		233	216	1		1			0	0	45	0		1	0	0	0	0	0	0	46	233
USH2A	7399	broad.mit.edu	37	1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000307340.3	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3167	Fibronectin type-III 18. {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)			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)		GCCTTGCAGAGCTCATCACTC	0.413										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.270000	1	3.500000e-01	0.450000	0.562170	0.450000	0.430000																										0				527						c.(9499-9501)Ctc>Ttc		Usher syndrome 2A (autosomal recessive, mild)							166.0	152.0	157.0					1																	215990410		2203	4299	6502	SO:0001583	missense	7399	0	0					g.chr1:215990410G>A	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.9499C>T	chr1.hg19:g.215990410G>A	ENSP00000305941:p.Leu3167Phe	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	p.L3167F	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		48	9885	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.9499C>T	CCDS31025.1	0	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595959	0.13875	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.02	0.121	0.14695	5.02	0.121	0.14695	Fibronectin, type III (2);	0.468942	0.16745	N	0.201268	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37572	-0.9700	10	0.08837	T	0.75	.	0.8745	0.01221	0.3763:0.2639:0.2076:0.1522	.	3167	O75445	USH2A_HUMAN	F	3167	ENSP00000305941:L3167F;ENSP00000355910:L3167F	ENSP00000305941:L3167F	L	-	1	0	0	USH2A	214057033	214057033	0.000000	0.05858	0.342000	0.25602	0.513000	0.34164	-0.152000	0.10159	0.188000	0.20168	0.561000	0.74099	CTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.244986	1	0.170000	NM_007123			22	22		660	644	0		1			0	0	124	0		9.999983e-01	0	0	0	0	0	0	22	660
USH2A	7399	broad.mit.edu	37	1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000307340.3	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17. {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)			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)		TTGCTTTTCACGCAGGCATAT	0.373										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(9286-9288)Gtg>Atg		Usher syndrome 2A (autosomal recessive, mild)		C	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	226.0	205.0	212.0		9286	5.0	1.0	1	dbSNP_134	212	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	3096/5203	216011418	4,13002	2203	4300	6503	SO:0001583	missense	7399	6	121412	45				g.chr1:216011418C>T	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.9286G>A	chr1.hg19:g.216011418C>T	ENSP00000305941:p.Val3096Met	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	p.V3096M	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		47	9672	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.9286G>A	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005754	0.54254	9.08E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.01	5.01	0.66863	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.67590	0.2909	M	0.70595	2.14	0.41726	D	0.989538	D	0.71674	0.998	P	0.56088	0.791	T	0.71069	-0.4699	10	0.52906	T	0.07	.	17.9566	0.89070	0.0:1.0:0.0:0.0	.	3096	O75445	USH2A_HUMAN	M	3096	ENSP00000305941:V3096M;ENSP00000355910:V3096M	ENSP00000305941:V3096M	V	-	1	0	0	USH2A	214078041	214078041	0.900000	0.30661	0.995000	0.50966	0.284000	0.27059	1.227000	0.32576	2.331000	0.79229	0.655000	0.94253	GTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_007123			85	83		530	523	1		1	0		0	0	108	0		1	0	0	0	0	1	0	85	530
USH2A	7399	broad.mit.edu	37	1	216019173	216019173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000307340.3	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000366943.2_Silent_p.C3016C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3016	Fibronectin type-III 16. {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.C3016C(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)		CACCCCCATCGCAAGTGGTTG	0.448										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C3016C(1)	endometrium(1)	527						c.(9046-9048)tgC>tgT		Usher syndrome 2A (autosomal recessive, mild)							77.0	72.0	74.0					1																	216019173		2203	4300	6503	SO:0001819	synonymous_variant	7399	0	0					g.chr1:216019173G>A	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.9048C>T	chr1.hg19:g.216019173G>A		1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Silent_p.C3016C	p.C3016C	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		45	9434	-			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	1	1	hg19	c.9048C>T	CCDS31025.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-14.921810	1	0.170000	NM_007123			32	32		216	211	0		1			0	0	32	0		1	0	0	0	0	0	0	32	216
SKI	6497	broad.mit.edu	37	1	2160432	2160432	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	ENST00000378536.4	+	1	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	76					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTGCTGCACCTGCCCGCCATC	0.761																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4	1.000000	0.490000	9.600000e-01	6.800000e-01	0.850000	0.827568	0.850000	0.990000																										0				10						c.(226-228)cTg>cCg		SKI proto-oncogene							4.0	4.0	4.0					1																	2160432		1917	3938	5855	SO:0001583	missense	6497	3	114386	25				g.chr1:2160432T>C	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.227T>C	chr1.hg19:g.2160432T>C	ENSP00000367797:p.Leu76Pro	1						p.L76P	NM_003036.3	NP_003027.1	0	1	1	1.838767	P12755	SKI_HUMAN		1	299	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	0	1	hg19	c.227T>C	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685220	0.47991	.	.	ENSG00000157933	ENST00000378536	D	0.96136	-3.92	2.61	2.61	0.31194	2.61	2.61	0.31194	.	0.437967	0.20248	U	0.096156	D	0.92770	0.7701	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91623	0.5312	10	0.52906	T	0.07	-7.6158	9.7448	0.40440	0.0:0.0:0.0:1.0	.	76	P12755	SKI_HUMAN	P	76	ENSP00000367797:L76P	ENSP00000367797:L76P	L	+	2	0	0	SKI	2150292	2150292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.193000	0.50997	1.060000	0.40578	0.323000	0.21402	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.761	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-17.999420	1	0.170000	NM_003036			7	7		41	40	0		1	0		0	0	13	0		9.820674e-01	0	0	0	0	1	0	7	41
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000307340.3	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16. {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)			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)		ATTGGCTCCTCTCTCTGGAAG	0.468										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(8779-8781)aGa>aTa		Usher syndrome 2A (autosomal recessive, mild)							163.0	131.0	142.0					1																	216040414		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216040414C>A	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.8780G>T	chr1.hg19:g.216040414C>A	ENSP00000305941:p.Arg2927Ile	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	p.R2927I	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		44	9166	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.8780G>T	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.72	4.71	0.59529	5.72	4.71	0.59529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153716	0.30043	N	0.010554	T	0.55465	0.1922	M	0.63428	1.95	0.44555	D	0.997512	D	0.54397	0.966	P	0.58331	0.837	T	0.53415	-0.8442	10	0.38643	T	0.18	.	6.9019	0.24286	0.0:0.8028:0.0:0.1972	.	2927	O75445	USH2A_HUMAN	I	2927	ENSP00000305941:R2927I;ENSP00000355910:R2927I	ENSP00000305941:R2927I	R	-	2	0	0	USH2A	214107037	214107037	0.990000	0.36364	1.000000	0.80357	0.871000	0.50021	0.982000	0.29539	2.711000	0.92665	0.557000	0.71058	AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.225376	1	0.170000	NM_007123			68	67		256	251	1		1			0	0	46	0		1	0	0	0	0	0	0	68	256
SKI	6497	broad.mit.edu	37	1	2160862	2160862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	219					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGCGTCCGCGTGTACCACG	0.706																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4	0.830000	0.140000	6.400000e-01	2.600000e-01	0.420000	0.453974	0.420000	0.380000																										0				10						c.(655-657)cgC>cgT		SKI proto-oncogene							12.0	14.0	13.0					1																	2160862		2175	4273	6448	SO:0001819	synonymous_variant	6497	0	0					g.chr1:2160862C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.657C>T	chr1.hg19:g.2160862C>T		1						p.R219R	NM_003036.3	NP_003027.1	0	1	1	1.838767	P12755	SKI_HUMAN		1	729	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		Q5SYT7	Silent	SNP	ENST00000378536.4	0	1	hg19	c.657C>T	CCDS39.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	0	0	0		2	2	2	0		0	0	20		20	19	1	2.060000	-7.517457	1	0.170000	NM_003036			4	4		100	99	1		1	1		0	0	20	0		8.895095e-01	6.402354e-01	0	5	0	46	0	4	100
SKI	6497	broad.mit.edu	37	1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	235					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4	1.000000	0.860000	1	9.300000e-01	0.970000	0.966944	0.970000	0.990000																										0				10						c.(703-705)gaG>gaT		SKI proto-oncogene							16.0	20.0	18.0					1																	2160910		2188	4280	6468	SO:0001583	missense	6497	0	0					g.chr1:2160910G>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.705G>T	chr1.hg19:g.2160910G>T	ENSP00000367797:p.Glu235Asp	1						p.E235D	NM_003036.3	NP_003027.1	0	1	1	1.838767	P12755	SKI_HUMAN		1	777	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	1	1	hg19	c.705G>T	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559203	0.65538	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.3	4.3	0.51218	4.3	4.3	0.51218	SAND domain-like (2);c-SKI Smad4-binding (1);	0.061228	0.64402	D	0.000004	D	0.96636	0.8902	M	0.64997	1.995	0.54753	D	0.999982	D	0.71674	0.998	D	0.67103	0.949	D	0.95726	0.8770	10	0.30078	T	0.28	-21.7522	15.7222	0.77721	0.0:0.0:1.0:0.0	.	235	P12755	SKI_HUMAN	D	235	ENSP00000367797:E235D	ENSP00000367797:E235D	E	+	3	2	2	SKI	2150770	2150770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.335000	0.72949	1.934000	0.56057	0.393000	0.25936	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	1	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_003036			36	35		113	112	0		1	1		0	0	32	0		1	9.999546e-01	0	6	0	47	0	36	113
USH2A	7399	broad.mit.edu	37	1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000307340.3	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2619	Fibronectin type-III 12. {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)			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)		CCTGGGAGTGTCCATACAGTC	0.502										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(7855-7857)Aca>Tca		Usher syndrome 2A (autosomal recessive, mild)							86.0	85.0	85.0					1																	216062136		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216062136T>A	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.7855A>T	chr1.hg19:g.216062136T>A	ENSP00000305941:p.Thr2619Ser	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2619S	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		41	8241	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.7855A>T	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771514	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.65178	-0.14;-0.14	5.84	5.84	0.93424	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000477	T	0.81034	0.4739	M	0.86028	2.79	0.51767	D	0.999934	D	0.89917	1.0	D	0.72075	0.976	T	0.82725	-0.0315	10	0.48119	T	0.1	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	2619	O75445	USH2A_HUMAN	S	2619	ENSP00000305941:T2619S;ENSP00000355910:T2619S	ENSP00000305941:T2619S	T	-	1	0	0	USH2A	214128759	214128759	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.442000	0.80503	2.228000	0.72767	0.533000	0.62120	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_007123			84	82		246	239	1		1			0	0	59	0		1	0	0	0	0	0	0	84	246
USH2A	7399	broad.mit.edu	37	1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000307340.3	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2016	Fibronectin type-III 6. {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)			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)		CATTTACCTGTGAGGTTGCTT	0.378										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				527						c.(6046-6048)Aca>Gca		Usher syndrome 2A (autosomal recessive, mild)							90.0	89.0	89.0					1																	216243446		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216243446T>C	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.6046A>G	chr1.hg19:g.216243446T>C	ENSP00000305941:p.Thr2016Ala	1	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.T2016A	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		30	6432	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.6046A>G	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532906	0.45073	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58506	0.33;0.33	5.47	-1.0	0.10196	5.47	-1.0	0.10196	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.761040	0.10938	N	0.617623	T	0.46580	0.1400	M	0.64404	1.975	0.28700	N	0.904138	B	0.28128	0.201	B	0.28232	0.087	T	0.38650	-0.9651	10	0.17369	T	0.5	.	5.0131	0.14322	0.2222:0.1171:0.0:0.6607	.	2016	O75445	USH2A_HUMAN	A	2016	ENSP00000305941:T2016A;ENSP00000355910:T2016A	ENSP00000305941:T2016A	T	-	1	0	0	USH2A	214310069	214310069	0.991000	0.36638	0.014000	0.15608	0.206000	0.24218	1.313000	0.33585	-0.461000	0.06993	-0.479000	0.04858	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-19.873380	1	0.170000	NM_007123			42	42		239	234	1		1			0	0	34	0		1	0	0	0	0	0	0	42	239
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000307340.3	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	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.N1758T(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)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.N1758T(1)	lung(1)	527						c.(5272-5274)aAc>aCc		Usher syndrome 2A (autosomal recessive, mild)							95.0	99.0	97.0					1																	216256823		2202	4299	6501	SO:0001583	missense	7399	0	0					g.chr1:216256823T>G	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.5273A>C	chr1.hg19:g.216256823T>G	ENSP00000305941:p.Asn1758Thr	1	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.N1758T	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		26	5659	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.5273A>C	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331504	0.60853	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79940	-1.32;-1.32	4.38	3.25	0.37280	4.38	3.25	0.37280	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	0.48286	D	0.000186	D	0.86732	0.6003	M	0.73598	2.24	0.35285	D	0.781655	D	0.76494	0.999	D	0.69307	0.963	D	0.88206	0.2887	10	0.44086	T	0.13	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	T	1758	ENSP00000305941:N1758T;ENSP00000355910:N1758T	ENSP00000305941:N1758T	N	-	2	0	0	USH2A	214323446	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_007123			123	122		344	340	1		1			0	0	109	0		1	0	0	0	0	0	0	123	344
USH2A	7399	broad.mit.edu	37	1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000307340.3	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		I -> T (in dbSNP:rs56222536). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTTTGGATTATCTCTGCA	0.333										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(4993-4995)Atc>Ctc		Usher syndrome 2A (autosomal recessive, mild)							62.0	64.0	64.0					1																	216258214		2201	4300	6501	SO:0001583	missense	7399	0	0					g.chr1:216258214T>G	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.4993A>C	chr1.hg19:g.216258214T>G	ENSP00000305941:p.Ile1665Leu	1	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.I1665L	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		25	5379	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.4993A>C	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015583	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	4.93	-2.28	0.06826	4.93	-2.28	0.06826	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);	0.479810	0.17138	N	0.185577	T	0.57799	0.2078	N	0.21097	0.63	0.20764	N	0.999851	B	0.06786	0.001	B	0.10450	0.005	T	0.41680	-0.9495	10	0.32370	T	0.25	.	7.1839	0.25789	0.0:0.3409:0.114:0.5451	.	1665	O75445	USH2A_HUMAN	L	1665	ENSP00000305941:I1665L;ENSP00000355910:I1665L	ENSP00000305941:I1665L	I	-	1	0	0	USH2A	214324837	214324837	0.817000	0.29147	0.322000	0.25334	0.952000	0.60782	0.189000	0.17037	-0.335000	0.08451	0.529000	0.55759	ATC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_007123			109	105		293	287	1		1			0	0	73	0		1	0	0	0	0	0	0	109	293
USH2A	7399	broad.mit.edu	37	1	216270488	216270488	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000307340.3	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000366943.2_Silent_p.N1565N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1. {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)			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)		ACTCTTCCTGATTGCCAGGTG	0.378										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.670000	1	8.400000e-01	0.990000	0.944877	0.990000	1.000000																										0				527						c.(4693-4695)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							80.0	76.0	77.0					1																	216270488		2203	4300	6503	SO:0001819	synonymous_variant	7399	0	0					g.chr1:216270488A>G	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.4695T>C	chr1.hg19:g.216270488A>G		1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Silent_p.N1565N	p.N1565N	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		22	5081	-			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	1	1	hg19	c.4695T>C	CCDS31025.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_007123			23	23		280	276	0		1			0	0	49	0		9.999994e-01	0	0	0	0	0	0	23	280
USH2A	7399	broad.mit.edu	37	1	216390747	216390747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000307340.3	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1047	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.		L -> V. {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCCAATAGATTGTTGACA	0.448										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(3139-3141)Cta>Tta		Usher syndrome 2A (autosomal recessive, mild)							106.0	89.0	95.0					1																	216390747		2203	4300	6503	SO:0001819	synonymous_variant	7399	0	0					g.chr1:216390747G>A	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.3139C>T	chr1.hg19:g.216390747G>A		1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	p.L1047L	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		15	3525	-			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	1	1	hg19	c.3139C>T	CCDS31025.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_007123			72	71		221	217	1		1			0	0	46	0		1	0	0	0	0	0	0	72	221
USH2A	7399	broad.mit.edu	37	1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000307340.3	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000366943.2_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		CGTACCAATAACGTTTGCTTT	0.403										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(2161-2163)gTt>gGt		Usher syndrome 2A (autosomal recessive, mild)							139.0	128.0	132.0					1																	216424250		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216424250A>C	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.2162T>G	chr1.hg19:g.216424250A>C	ENSP00000305941:p.Val721Gly	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	p.V721G	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		12	2548	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.2162T>G	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108035	0.56291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66815	-0.23;-0.23;-0.23	5.26	4.13	0.48395	5.26	4.13	0.48395	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	D	0.87521	0.6198	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.89397	0.3693	10	0.72032	D	0.01	.	10.6956	0.45896	0.9247:0.0:0.0753:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	G	721	ENSP00000305941:V721G;ENSP00000355910:V721G;ENSP00000355909:V721G	ENSP00000305941:V721G	V	-	2	0	0	USH2A	214490873	214490873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	0.850000	0.35239	0.533000	0.62120	GTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_007123			36	35		162	157	1		1			0	0	24	0		1	0	0	0	0	0	0	36	162
USH2A	7399	broad.mit.edu	37	1	216465665	216465665	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000307340.3	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	564	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)			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)		AAACTTGATCACCTTGGCGGA	0.383										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.650000	1	7.900000e-01	0.990000	0.922981	0.990000	1.000000																										0				527						c.(1690-1692)ggT>ggG		Usher syndrome 2A (autosomal recessive, mild)							101.0	94.0	96.0					1																	216465665		2203	4300	6503	SO:0001819	synonymous_variant	7399	0	0					g.chr1:216465665A>C	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.1692T>G	chr1.hg19:g.216465665A>C		1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	p.G564G	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		10	2078	-			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	1	1	hg19	c.1692T>G	CCDS31025.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-8.205407	1	0.170000	NM_007123			28	28		367	362	0		1			0	0	72	0		1	0	0	0	0	0	0	28	367
NBPF3	84224	broad.mit.edu	37	1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T	rs371433372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000318249.5	+	2	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	41						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537																																						ENST00000318249.5	0.930000	0.360000	8.000000e-01	4.800000e-01	0.630000	0.648725	0.630000	0.620000																										0				20						c.(121-123)Cga>Tga		neuroblastoma breakpoint family, member 3		C	stop/ARG	0,4406		0,0,2203	41.0	42.0	42.0		121	0.7	0.0	1		42	1,8599		0,1,4299	no	stop-gained	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		41/634	21771700	1,13005	2203	4300	6503	SO:0001587	stop_gained	84224	5	121404	37				g.chr1:21771700C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.121C>T	chr1.hg19:g.21771700C>T	ENSP00000316782:p.Arg41*	1					NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000478653.2_3'UTR	p.R41*	NM_032264.3	NP_115640.1	0	1	1	1.828421	Q9H094	NBPF3_HUMAN		2	471	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Nonsense_Mutation	SNP	ENST00000318249.5	0	1	hg19	c.121C>T	CCDS216.1	0	.	.	.	.	.	.	.	.	.	.	.	33	5.226067	0.95173	0.0	1.16E-4	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	.	.	.	0.717	0.717	0.18196	0.717	0.717	0.18196	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8957	0.13749	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000316782:R41X	R	+	1	2	2	NBPF3	21644287	21644287	0.029000	0.19370	0.008000	0.14137	0.311000	0.27955	0.522000	0.22909	0.712000	0.32039	0.271000	0.19318	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.078407	1	0.170000	NM_032264			13	13		202	195	0		1	0		0	0	61	0		9.994810e-01	4.555372e-01	0	1	0	23	0	13	202
USH2A	7399	broad.mit.edu	37	1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000307340.3	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTCGTGACTCAGTCAAG	0.453										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				527						c.(97-99)Tca>Cca		Usher syndrome 2A (autosomal recessive, mild)							76.0	80.0	79.0					1																	216595582		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216595582A>G	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.97T>C	chr1.hg19:g.216595582A>G	ENSP00000305941:p.Ser33Pro	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	p.S33P	NM_206933.2	NP_996816	1	3	4	2.193440	O75445	USH2A_HUMAN		2	483	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.97T>C	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718988	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20598	2.5;2.49;2.06	5.27	2.96	0.34315	5.27	2.96	0.34315	.	0.207614	0.23881	N	0.043646	T	0.16471	0.0396	L	0.49640	1.575	0.33847	D	0.632119	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.007	T	0.14144	-1.0483	10	0.28530	T	0.3	.	5.2408	0.15471	0.7218:0.0:0.1465:0.1317	.	33;33	O75445-2;O75445	.;USH2A_HUMAN	P	33	ENSP00000305941:S33P;ENSP00000355910:S33P;ENSP00000355909:S33P	ENSP00000305941:S33P	S	-	1	0	0	USH2A	214662205	214662205	1.000000	0.71417	0.012000	0.15200	0.291000	0.27294	1.496000	0.35638	0.335000	0.23614	0.482000	0.46254	TCA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	1		2	2	2	1		1	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_007123			64	62		298	290	1		1			1	0	67	0		1	0	0	0	0	0	0	64	298
NBPF3	84224	broad.mit.edu	37	1	21797189	21797189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318249.5	+	4	758	c.408G>A	c.(406-408)gaG>gaA	p.E136E	NBPF3_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000318220.6_Silent_p.E80E|NBPF3_ENST00000342104.5_Silent_p.E136E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	136						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542																																						ENST00000318249.5	1.000000	0.680000	9.700000e-01	7.800000e-01	0.890000	0.881772	0.890000	0.960000																										0				20						c.(406-408)gaG>gaA		neuroblastoma breakpoint family, member 3							46.0	51.0	49.0					1																	21797189		2203	4300	6503	SO:0001819	synonymous_variant	84224	0	0					g.chr1:21797189G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.408G>A	chr1.hg19:g.21797189G>A		1					NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000318220.6_Silent_p.E80E|NBPF3_ENST00000454000.2_Silent_p.E66E	p.E136E	NM_032264.3	NP_115640.1	0	1	1	1.828421	Q9H094	NBPF3_HUMAN		4	758	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	1	1	hg19	c.408G>A	CCDS216.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_032264			39	38		387	377	0		1	1		0	0	96	0		1	6.398195e-01	0	3	0	20	0	39	387
SPATA17	128153	broad.mit.edu	37	1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	55	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				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)		TCCTAGGCATTTAAACAGGAT	0.284																																						ENST00000366933.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(163-165)Tta>Ata		spermatogenesis associated 17							70.0	79.0	76.0					1																	217824443		2202	4288	6490	SO:0001583	missense	128153	0	0					g.chr1:217824443T>A	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.163T>A	chr1.hg19:g.217824443T>A	ENSP00000355900:p.Leu55Ile	1						p.L55I	NM_138796.2	NP_620151.1	1	3	4	2.193440	Q96L03	SPT17_HUMAN		3	218	+			A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	1	1	hg19	c.163T>A	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401820	0.62288	.	.	ENSG00000162814	ENST00000366933	T	0.73575	-0.76	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.79257	0.4415	L	0.48877	1.53	0.33333	D	0.568893	D	0.89917	1.0	D	0.91635	0.999	T	0.82788	-0.0284	10	0.45353	T	0.12	-6.4751	7.6782	0.28499	0.0:0.097:0.0:0.903	.	55	Q96L03	SPT17_HUMAN	I	55	ENSP00000355900:L55I	ENSP00000355900:L55I	L	+	1	2	2	SPATA17	215891066	215891066	0.993000	0.37304	0.561000	0.28357	0.035000	0.12851	1.911000	0.39937	1.964000	0.57103	0.528000	0.53228	TTA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_138796			44	45		257	257	1		1	0		0	0	68	0		1	7.341786e-01	0	1	0	16	0	44	257
SPATA17	128153	broad.mit.edu	37	1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	349						cytoplasm (GO:0005737)				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)		CTCTTCTCAAAGTATGGAAAA	0.289																																						ENST00000366933.4	1.000000	0.520000	1	6.300000e-01	0.760000	0.793670	0.760000	0.720000																										0				21						c.(1045-1047)aAg>aCg		spermatogenesis associated 17							112.0	127.0	122.0					1																	218036156		2203	4294	6497	SO:0001583	missense	128153	0	0					g.chr1:218036156A>C	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.1046A>C	chr1.hg19:g.218036156A>C	ENSP00000355900:p.Lys349Thr	1					SPATA17_ENST00000471021.1_3'UTR	p.K349T	NM_138796.2	NP_620151.1	1	3	4	2.193440	Q96L03	SPT17_HUMAN		10	1101	+			A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	1	1	hg19	c.1046A>C	CCDS1519.1	0	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683936	0.47991	.	.	ENSG00000162814	ENST00000366933	T	0.53423	0.62	5.38	3.08	0.35506	5.38	3.08	0.35506	.	0.325508	0.26282	N	0.025278	T	0.49729	0.1574	M	0.74881	2.28	0.36585	D	0.873784	D	0.53619	0.961	P	0.46629	0.522	T	0.60880	-0.7175	10	0.72032	D	0.01	-4.4574	7.5057	0.27542	0.8309:0.0:0.1691:0.0	.	349	Q96L03	SPT17_HUMAN	T	349	ENSP00000355900:K349T	ENSP00000355900:K349T	K	+	2	0	0	SPATA17	216102779	216102779	0.989000	0.36119	0.575000	0.28536	0.529000	0.34654	2.795000	0.47861	0.868000	0.35678	0.477000	0.44152	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	0	0	1		2	2	2	0		0	0	185		185	185	1	2.060000	-20.000000	1	0.170000	NM_138796			37	37		632	616	0		1	0		0	0	185	0		1	2.913512e-02	0	0	0	5	0	37	632
ALPL	249	broad.mit.edu	37	1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	132			A -> V (in HOPS). {ECO:0000269|PubMed:11834095}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGGGGTAAGCGCAGCCACTGA	0.667																																						ENST00000374840.3	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.922806	0.930000	0.990000																										0				26	GRCh37	CM068249	ALPL	M		c.(394-396)Gca>Aca		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)|Fospropofol(DB06716)						80.0	72.0	75.0					1																	21889699		2203	4300	6503	SO:0001583	missense	249	2	121408	34				g.chr1:21889699G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.394G>A	chr1.hg19:g.21889699G>A	ENSP00000363973:p.Ala132Thr	1					ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T	p.A132T	NM_000478.4	NP_000469.3	0	1	1	1.828421	P05186	PPBT_HUMAN		5	644	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	1	1	hg19	c.394G>A	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.240773	0.95240	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.49	4.49	0.54785	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.050790	0.85682	D	0.000000	D	0.97405	0.9151	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.977;0.995	D	0.97812	1.0251	10	0.59425	D	0.04	-20.2969	15.8954	0.79329	0.0:0.0:1.0:0.0	.	55;80;132	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	55;77;132;132;132	ENSP00000437674:A55T;ENSP00000442672:A77T;ENSP00000363973:A132T;ENSP00000363965:A132T;ENSP00000394765:A132T	ENSP00000363965:A132T	A	+	1	0	0	ALPL	21762286	21762286	1.000000	0.71417	0.956000	0.39512	0.837000	0.47467	9.383000	0.97214	2.320000	0.78422	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.920854	1	0.170000	NM_000478			43	43		363	357	1		1	0		0	0	64	0		1	9.424163e-02	0	0	0	5	0	43	363
ALPL	249	broad.mit.edu	37	1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	203					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGCTGTAAGGACATCGCCTAC	0.657																																						ENST00000374840.3	0.570000	0.160000	4.500000e-01	2.300000e-01	0.330000	0.348219	0.330000	0.320000																										0				26						c.(607-609)gAc>gGc		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)|Fospropofol(DB06716)						84.0	75.0	78.0					1																	21890669		2203	4300	6503	SO:0001583	missense	249	0	0					g.chr1:21890669A>G	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.608A>G	chr1.hg19:g.21890669A>G	ENSP00000363973:p.Asp203Gly	1					ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G	p.D203G	NM_000478.4	NP_000469.3	0	1	1	1.828421	P05186	PPBT_HUMAN		6	858	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	1	1	hg19	c.608A>G	CCDS217.1	0	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958174	0.92726	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.39	5.39	0.77823	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;D	0.83275	0.996;0.979;0.955	D	0.99659	1.0993	10	0.72032	D	0.01	-32.7123	14.2145	0.65783	1.0:0.0:0.0:0.0	.	126;151;203	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	G	126;148;203;203;203	ENSP00000437674:D126G;ENSP00000442672:D148G;ENSP00000363973:D203G;ENSP00000363965:D203G;ENSP00000394765:D203G	ENSP00000363965:D203G	D	+	2	0	0	ALPL	21763256	21763256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	2.038000	0.60285	0.459000	0.35465	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-10.095120	1	0.170000	NM_000478			9	9		288	288	0		1	0		0	0	62	0		9.944091e-01	3.646071e-02	0	0	0	9	0	9	288
RAP1GAP	5909	broad.mit.edu	37	1	21928254	21928254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000374765.4	-	20	1775	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	RAP1GAP_ENST00000542643.2_Silent_p.S551S|RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000374761.2_Silent_p.S556S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	525					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)			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)		AGACGTGCCCGCTGTCTGGGG	0.667																																						ENST00000374765.4	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.948284	0.950000	0.990000																										0				17						c.(1573-1575)agC>agT		RAP1 GTPase activating protein							70.0	65.0	67.0					1																	21928254		2203	4300	6503	SO:0001819	synonymous_variant	5909	0	0					g.chr1:21928254G>A	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.1575C>T	chr1.hg19:g.21928254G>A		1					RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000542643.2_Silent_p.S551S	p.S525S	NM_002885.2	NP_002876.2	0	1	1	1.828421	P47736	RPGP1_HUMAN		20	1775	-		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)	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	1	1	hg19	c.1575C>T	CCDS218.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.352502	1	0.170000	NM_002885			32	32		170	168	1		1	1		0	0	45	0		1	9.999916e-01	0	13	0	88	0	32	170
RAP1GAP	5909	broad.mit.edu	37	1	21936611	21936611	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000374765.4	-	14	1200		c.e14+1		RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						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)			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)		AAGAGCGCCCACCTTGTAGAG	0.627																																						ENST00000374765.4	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.953894	0.960000	0.990000																										0				17						c.e14+1		RAP1 GTPase activating protein							28.0	27.0	27.0					1																	21936611		2203	4300	6503	SO:0001630	splice_region_variant	5909	0	0					g.chr1:21936611A>G	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.999+1T>C	chr1.hg19:g.21936611A>G		1					RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Splice_Site		NM_002885.2	NP_002876.2	0	1	1	1.828421	P47736	RPGP1_HUMAN		14	1200	-		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)	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Splice_Site	SNP	ENST00000374765.4	1	1	hg19		CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381459	0.61845	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	.	.	.	5.62	5.62	0.85841	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0701	0.64854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RAP1GAP	21809198	21809198	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.473000	0.81007	2.279000	0.76181	0.459000	0.35465	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_002885	Intron		30	29		126	124	1		1	0		0	0	35	0		1	0	0	1	0	0	0	30	126
TGFB2	7042	broad.mit.edu	37	1	218520115	218520115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366930.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_ENST00000366929.4_Silent_p.C24C|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	24					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)			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)		TGTCTACCTGCAGCACACTCG	0.512																																						ENST00000366930.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(70-72)tgC>tgT		transforming growth factor, beta 2							88.0	89.0	88.0					1																	218520115		2203	4300	6503	SO:0001819	synonymous_variant	7042	0	0					g.chr1:218520115C>T	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.72C>T	chr1.hg19:g.218520115C>T		1					RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Silent_p.C24C	p.C24C	NM_003238.3	NP_003229.1	1	3	4	2.193440	P61812	TGFB2_HUMAN		1	539	+			B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	1	1	hg19	c.72C>T	CCDS1521.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000	NM_003238			116	115		397	395	0		1	0		0	0	107	0		1	9.768188e-01	0	1	0	22	0	116	397
LYPLAL1	127018	broad.mit.edu	37	1	219366593	219366593	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	121					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318																																						ENST00000366928.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(361-363)Gga>Tga		lysophospholipase-like 1							69.0	68.0	68.0					1																	219366593		2203	4299	6502	SO:0001630	splice_region_variant	127018	0	0					g.chr1:219366593G>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+1G>T	chr1.hg19:g.219366593G>T		1					LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*	p.G121*	NM_138794.3	NP_620149	1	3	4	2.193440	Q5VWZ2	LYPL1_HUMAN		3	408	+			A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Splice_Site	SNP	ENST00000366928.5	0	0	hg19	c.361G>T	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568093	0.86439	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	121;105	.	ENSP00000355894:G105X	G	+	1	0	0	LYPLAL1	217433216	217433216	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.780000	0.85658	2.753000	0.94483	0.585000	0.79938	GGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.944348	1	0.170000	NM_138794	Nonsense_Mutation		34	34		116	114	1		1	0		0	0	45	0		1	9.999852e-01	0	0	0	64	0	34	116
SLC30A10	55532	broad.mit.edu	37	1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(910-912)Gcc>Acc		solute carrier family 30, member 10							147.0	150.0	149.0					1																	220091645		2203	4300	6503	SO:0001583	missense	55532	0	0					g.chr1:220091645C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.910G>A	chr1.hg19:g.220091645C>T	ENSP00000355893:p.Ala304Thr	1					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T	p.A304T	NM_018713.2	NP_061183.2	1	3	4	2.193440	Q6XR72	ZNT10_HUMAN		3	1071	-			Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	1	1	hg19	c.910G>A	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377786	0.42105	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63744	-0.06;-0.06	6.01	0.302	0.15786	6.01	0.302	0.15786	.	1.253450	0.05112	N	0.489145	T	0.42086	0.1187	N	0.17474	0.49	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.21314	-1.0249	9	.	.	.	-4.4809	3.8409	0.08914	0.46:0.2313:0.0:0.3087	.	304	Q6XR72	ZNT10_HUMAN	T	304;59	ENSP00000355893:A304T;ENSP00000439489:A59T	.	A	-	1	0	0	SLC30A10	218158268	218158268	0.009000	0.17119	0.185000	0.23176	0.988000	0.76386	0.305000	0.19254	0.389000	0.25086	0.585000	0.79938	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_018713			114	111		600	583	1		1	0		0	0	135	0		1	6.930469e-02	0	1	0	2	0	114	600
EPRS	2058	broad.mit.edu	37	1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1391	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)			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)	TCAGCAACTGTCAGCTTTTCT	0.413																																						ENST00000366923.3	1.000000	0.330000	1	4.200000e-01	0.530000	0.621276	0.530000	0.500000																										0				63						c.(4171-4173)Aca>Gca		glutamyl-prolyl-tRNA synthetase	L-Proline(DB00172)						163.0	152.0	156.0					1																	220146653		2203	4300	6503	SO:0001583	missense	2058	0	0					g.chr1:220146653T>C	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.4171A>G	chr1.hg19:g.220146653T>C	ENSP00000355890:p.Thr1391Ala	1						p.T1391A	NM_004446.2	NP_004437.2	1	3	4	2.193440	P07814	SYEP_HUMAN		29	4440	-			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	1	1	hg19	c.4171A>G	CCDS31027.1	0	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160452	0.78226	.	.	ENSG00000136628	ENST00000366923	D	0.82984	-1.67	5.81	5.81	0.92471	5.81	5.81	0.92471	Anticodon-binding (3);	0.048876	0.85682	D	0.000000	D	0.83156	0.5193	L	0.59436	1.845	0.53005	D	0.999969	B	0.31640	0.333	B	0.37091	0.241	T	0.82780	-0.0288	10	0.56958	D	0.05	-14.8289	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1391	P07814	SYEP_HUMAN	A	1391	ENSP00000355890:T1391A	ENSP00000355890:T1391A	T	-	1	0	0	EPRS	218213276	218213276	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	4.732000	0.62029	2.210000	0.71456	0.533000	0.62120	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-4.214869	1	0.170000	NM_004446			24	24		607	589	0		1	1		0	0	118	0		9.999995e-01	9.999998e-01	0	49	0	605	0	24	607
BPNT1	10380	broad.mit.edu	37	1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308																																						ENST00000469520.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(400-402)Aca>Gca		3'(2'), 5'-bisphosphate nucleotidase 1							77.0	72.0	74.0					1																	220240718		1811	4073	5884	SO:0001583	missense	10380	0	0					g.chr1:220240718T>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.400A>G	chr1.hg19:g.220240718T>C	ENSP00000446828:p.Thr134Ala	1					BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A	p.T134A			1	3	4	2.193440	O95861	BPNT1_HUMAN		7	849	-			A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	1	1	hg19	c.400A>G	CCDS41469.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616325	0.87359	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	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	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.984	D	0.90526	0.4492	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	98;134;134	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	A	134;134;134;134;79;98;98;98;79	ENSP00000318852:T134A;ENSP00000446828:T134A;ENSP00000346862:T134A;ENSP00000444398:T79A;ENSP00000410348:T98A;ENSP00000446953:T98A;ENSP00000446850:T98A;ENSP00000448740:T79A	ENSP00000307087:T134A	T	-	1	0	0	BPNT1	218307341	218307341	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.788000	0.85771	2.272000	0.75746	0.460000	0.39030	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-19.999990	1	0.170000	NM_006085			47	47		227	226	1		1	1		0	0	51	0		1	1	0	52	0	107	0	47	227
BPNT1	10380	broad.mit.edu	37	1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398																																						ENST00000469520.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(22-24)tTg>tCg		3'(2'), 5'-bisphosphate nucleotidase 1							99.0	87.0	91.0					1																	220253166		1903	4113	6016	SO:0001583	missense	10380	0	0					g.chr1:220253166A>G	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.23T>C	chr1.hg19:g.220253166A>G	ENSP00000446828:p.Leu8Ser	1					BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S	p.L8S			1	3	4	2.193440	O95861	BPNT1_HUMAN		3	472	-			A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	1	1	hg19	c.23T>C	CCDS41469.1	1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.145283	0.42172	D	0.000758	D	0.93716	0.7992	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	D	0.94960	0.8107	10	0.87932	D	0	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	S	8	ENSP00000318852:L8S;ENSP00000446828:L8S;ENSP00000346862:L8S;ENSP00000410348:L8S;ENSP00000446953:L8S;ENSP00000446850:L8S;ENSP00000449883:L8S	ENSP00000307087:L8S	L	-	2	0	0	BPNT1	218319789	218319789	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.179000	0.77665	2.112000	0.64535	0.472000	0.43445	TTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_006085			52	51		258	255	1		1	1		0	0	61	0		1	9.999928e-01	0	26	0	64	0	52	258
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358																																						ENST00000308271.9	0.360000	0.090000	2.800000e-01	1.300000e-01	0.200000	0.213388	0.200000	0.190000																										1	Substitution - coding silent(1)	p.S254S(1)	lung(1)	42						c.(760-762)tcG>tcT		ubiquitin specific peptidase 48							110.0	115.0	113.0					1																	22078012		2203	4300	6503	SO:0001819	synonymous_variant	84196	0	0					g.chr1:22078012C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.762G>T	chr1.hg19:g.22078012C>A		1					USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	p.S254S	NM_032236.5	NP_115612.4	0	1	1	1.828421	Q86UV5	UBP48_HUMAN		6	1410	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	0	1	hg19	c.762G>T	CCDS30623.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	0	0	0		2	2	2	0		0	0	115		115	115	1	2.060000	-2.209972	0	0.170000	NM_032236			8	8		434	424	0		1	1		0	0	115	0		9.884785e-01	8.495780e-01	0	5	0	183	0	8	434
RAB3GAP2	25782	broad.mit.edu	37	1	220384297	220384297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	145					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353																																						ENST00000358951.2			0	0																														0				39						c.(433-435)aGg>aTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)							95.0	99.0	98.0					1																	220384297		2203	4300	6503	SO:0001630	splice_region_variant	25782	0	0					g.chr1:220384297C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.434+1G>T	chr1.hg19:g.220384297C>A								p.R145M	NM_012414.3	NP_036546.2					Q9H2M9	RBGPR_HUMAN		5	550	-			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Splice_Site	SNP	ENST00000358951.2	1	0	hg19	c.434G>T	CCDS31028.1		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675595|4.675595	0.88445|0.88445	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.34859	.|1.34	5.13|5.13	5.13|5.13	0.70059|0.70059	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.74674	.|0.98;0.984	T|T	0.34104|0.34104	-0.9842|-0.9842	5|9	.|.	.|.	.|.	.|.	18.5392|18.5392	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145	.|Q9H2M9-2;Q9H2M9	.|.;RBGPR_HUMAN	D|M	46|145	.|ENSP00000351832:R145M	.|.	E|R	-|-	3|2	2|0	2|0	RAB3GAP2|RAB3GAP2	218450920|218450920	218450920|218450920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.136000|7.136000	0.77285|0.77285	2.559000|2.559000	0.86315|0.86315	0.460000|0.460000	0.39030|0.39030	GAG|AGG			TCGA-IB-7651-01A-11D-2154-08	0.353	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-3.333926	1	0.170000	NM_012414	Missense_Mutation		21	21		129	126	1		1	0		0	0	35	0		9.999982e-01	9.933406e-01	0	0	0	53	0	21	129
MARK1	4139	broad.mit.edu	37	1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000366917.4	+	10	1191	c.925C>T	c.(925-927)Cga>Tga	p.R309*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*|HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAAGATCGATGGATGAA	0.328																																						ENST00000366917.4	1.000000	0.400000	9.900000e-01	5.300000e-01	0.700000	0.728501	0.700000	1.000000																										0				63						c.(925-927)Cga>Tga		MAP/microtubule affinity-regulating kinase 1							108.0	105.0	106.0					1																	220804392		2203	4300	6503	SO:0001587	stop_gained	4139	0	0					g.chr1:220804392C>T	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.925C>T	chr1.hg19:g.220804392C>T	ENSP00000355884:p.Arg309*	1					MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*|HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*	p.R309*			2	2	4	2.271400				10	1191	+				Nonsense_Mutation	SNP	ENST00000366917.4	0	1	hg19	c.925C>T	CCDS31029.2	0	.	.	.	.	.	.	.	.	.	.	C	44	10.904794	0.99486	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.068862	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	174;287;309	.	ENSP00000355884:R309X	R	+	1	2	2	MARK1	218871015	218871015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CGA	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.996843	1	0.170000				15	14		289	284	0		1	0		0	0	46	0		9.998629e-01	7.941992e-02	0	0	0	9	0	15	289
LDLRAD2	401944	broad.mit.edu	37	1	22140902	22140902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140902G>A	ENST00000344642.2	+	2	284	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	33						integral component of membrane (GO:0016021)				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)		CGACCTGGCGGAACTGTGCGG	0.692																																						ENST00000344642.2	0.900000	0.220000	7.300000e-01	3.500000e-01	0.520000	0.548781	0.520000	0.500000																										0				6						c.(97-99)Gaa>Aaa		low density lipoprotein receptor class A domain containing 2							9.0	11.0	10.0					1																	22140902		2069	4121	6190	SO:0001583	missense	401944	0	0					g.chr1:22140902G>A	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.97G>A	chr1.hg19:g.22140902G>A	ENSP00000340988:p.Glu33Lys	1					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	p.E33K	NM_001013693.2	NP_001013715.2	0	1	1	1.828421	Q5SZI1	LRAD2_HUMAN		2	284	+		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)	B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	0	1	hg19	c.97G>A	CCDS30624.1	0	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982013	0.53827	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.47869	0.83;0.83	4.28	1.21	0.21127	4.28	1.21	0.21127	.	0.392379	0.20423	N	0.092625	T	0.24314	0.0589	N	0.08118	0	0.29724	N	0.838387	B	0.06786	0.001	B	0.09377	0.004	T	0.12502	-1.0545	10	0.56958	D	0.05	-1.406	7.3921	0.26915	0.0969:0.3537:0.5494:0.0	.	33	Q5SZI1	LRAD2_HUMAN	K	33	ENSP00000340988:E33K;ENSP00000444097:E33K	ENSP00000340988:E33K	E	+	1	0	0	LDLRAD2	22013489	22013489	1.000000	0.71417	0.948000	0.38648	0.523000	0.34469	2.647000	0.46639	0.075000	0.16796	0.297000	0.19635	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	0	0	0		2	2	2	0		0	0	22		22	20	1	2.060000	-9.707706	1	0.170000	NM_001013693			6	6		115	111	0		1			0	0	22	0		9.624820e-01	0	0	0	0	0	0	6	115
LDLRAD2	401944	broad.mit.edu	37	1	22140961	22140961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	52						integral component of membrane (GO:0016021)				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)		ACGCCGCATCGCGCAGGTTCT	0.706																																						ENST00000344642.2	1.000000	0.910000	1	9.500000e-01	0.980000	0.980841	0.980000	0.990000																										0				6						c.(154-156)tcG>tcA		low density lipoprotein receptor class A domain containing 2							17.0	21.0	20.0					1																	22140961		2189	4283	6472	SO:0001819	synonymous_variant	401944	0	0					g.chr1:22140961G>A	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.156G>A	chr1.hg19:g.22140961G>A		1					LDLRAD2_ENST00000543870.1_Silent_p.S52S	p.S52S	NM_001013693.2	NP_001013715.2	0	1	1	1.828421	Q5SZI1	LRAD2_HUMAN		2	343	+		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)	B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	1	1	hg19	c.156G>A	CCDS30624.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	1	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_001013693			60	60		188	183	0		1			0	0	41	0		1	0	0	0	0	0	0	60	188
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502																																						ENST00000374695.3	0.980000	0.440000	9.100000e-01	5.900000e-01	0.760000	0.754141	0.760000	0.790000																										0				127						c.(10357-10359)atC>atA		heparan sulfate proteoglycan 2	Palifermin(DB00039)						36.0	35.0	35.0					1																	22162127		2203	4300	6503	SO:0001819	synonymous_variant	3339	0	0					g.chr1:22162127G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10359C>A	chr1.hg19:g.22162127G>T		1						p.I3453I	NM_005529.5	NP_005520.4	0	1	1	1.828421	P98160	PGBM_HUMAN		76	10438	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	1	1	hg19	c.10359C>A	CCDS30625.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-17.203630	1	0.170000	NM_005529			12	12		142	139	0		1	1		0	0	36	0		9.991410e-01	1	0	56	0	622	0	12	142
HLX	3142	broad.mit.edu	37	1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					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)			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)		CAGAACCGGCGGATGAAGTGG	0.637																																						ENST00000366903.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(982-984)cGg>cAg		H2.0-like homeobox							38.0	43.0	41.0					1																	221057562		2203	4296	6499	SO:0001583	missense	3142	0	0					g.chr1:221057562G>A	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.983G>A	chr1.hg19:g.221057562G>A	ENSP00000355870:p.Arg328Gln	1					HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	p.R328Q	NM_021958.3	NP_068777.1	2	2	4	2.271400	Q14774	HLX_HUMAN		4	2484	+			B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	1	1	hg19	c.983G>A	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.825551	0.96996	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99298	-5.48;-5.71;-5.48	4.9	4.9	0.64082	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99641	0.9868	H	0.97103	3.94	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-26.9734	17.218	0.86949	0.0:0.0:1.0:0.0	.	328	Q14774	HLX_HUMAN	Q	328;61;114	ENSP00000355870:R328Q;ENSP00000408248:R61Q;ENSP00000449882:R114Q	ENSP00000355870:R328Q	R	+	2	0	0	HLX	219124185	219124185	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.358000	0.97109	2.443000	0.82685	0.561000	0.74099	CGG	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-4.714971	1	0.170000	NM_021958			70	68		205	192	1		1	0		0	0	37	0		1	9.999999e-01	0	0	0	75	0	70	205
DUSP10	11221	broad.mit.edu	37	1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	rs116590328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	419	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 respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20327	0.0		0.001	False		,,,				2504	0.0					ENST00000366899.3	1.000000	0.770000	1	9.000000e-01	0.990000	0.966862	0.990000	1.000000																										0				36						c.(1255-1257)Gtc>Atc		dual specificity phosphatase 10							131.0	120.0	124.0					1																	221875948		2203	4300	6503	SO:0001583	missense	11221	6	121412	41				g.chr1:221875948C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1255G>A	chr1.hg19:g.221875948C>T	ENSP00000355866:p.Val419Ile	1					DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I|DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I	p.V419I	NM_007207.4	NP_009138.1	2	2	4	2.271400	Q9Y6W6	DUS10_HUMAN		4	1493	-			D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	1	1	hg19	c.1255G>A	CCDS1528.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639782	0.87760	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.62232	0.04;0.04;0.04	5.72	5.72	0.89469	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.48877	1.53	0.80722	D	1	P	0.50066	0.931	B	0.38921	0.285	T	0.65138	-0.6241	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	419	Q9Y6W6	DUS10_HUMAN	I	419;364;77;77	ENSP00000355866:V419I;ENSP00000322015:V77I;ENSP00000441302:V77I	ENSP00000322015:V77I	V	-	1	0	0	DUSP10	219942571	219942571	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GTC	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-11.124790	1	0.170000	NM_007207			43	42		516	508	0		1	1		0	0	110	0		1	9.801067e-01	0	11	0	65	0	43	516
HSPG2	3339	broad.mit.edu	37	1	22222460	22222460	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552																																						ENST00000374695.3	1.000000	0.840000	1	9.100000e-01	0.960000	0.959969	0.960000	0.990000																										0				127						c.e3-1		heparan sulfate proteoglycan 2	Palifermin(DB00039)						51.0	51.0	51.0					1																	22222460		2203	4300	6503	SO:0001630	splice_region_variant	3339	0	0					g.chr1:22222460C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.200-1G>T	chr1.hg19:g.22222460C>A		1							NM_005529.5	NP_005520.4	0	1	1	1.828421	P98160	PGBM_HUMAN		3	279	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	1	1	hg19		CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386085	0.11524	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	.	.	.	4.72	3.8	0.43715	4.72	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0717	0.42337	0.2007:0.7993:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	HSPG2	22095047	22095047	1.000000	0.71417	0.944000	0.38274	0.062000	0.15995	3.531000	0.53546	1.192000	0.43071	-0.195000	0.12781	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_005529	Intron		32	32		117	115	1		1	0		0	0	34	0		1	4.888463e-02	0	0	0	2	0	32	117
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					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 respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483																																						ENST00000366899.3	1.000000	0.730000	1	8.900000e-01	0.990000	0.962358	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P3P(1)	lung(1)	36						c.(7-9)ccG>ccA		dual specificity phosphatase 10							65.0	64.0	64.0					1																	221913078		2203	4300	6503	SO:0001819	synonymous_variant	11221	2	121402	35				g.chr1:221913078C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.9G>A	chr1.hg19:g.221913078C>T		1					DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron	p.P3P	NM_007207.4	NP_009138.1	2	2	4	2.271400	Q9Y6W6	DUS10_HUMAN		2	247	-			D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	1	1	hg19	c.9G>A	CCDS1528.1	1																																																																																								2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.318794	1	0.170000	NM_007207			30	29		356	344	0		1	1		0	0	79	0		1	9.470450e-01	0	3	0	57	0	30	356
HHIPL2	79802	broad.mit.edu	37	1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGAGGGGACTCGGTACCGCTT	0.542																																						ENST00000343410.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1186-1188)cGa>cAa		HHIP-like 2							73.0	69.0	71.0					1																	222713615		2203	4300	6503	SO:0001583	missense	79802	2	121412	33				g.chr1:222713615C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1187G>A	chr1.hg19:g.222713615C>T	ENSP00000342118:p.Arg396Gln	1						p.R396Q	NM_024746.3	NP_079022.2	2	2	4	2.271400	Q6UWX4	HIPL2_HUMAN		4	1245	-			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	1	1	hg19	c.1187G>A	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751619	0.31046	.	.	ENSG00000143512	ENST00000343410	T	0.11495	2.77	4.95	4.04	0.47022	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.11024	0.0269	L	0.58669	1.825	0.34984	D	0.754342	P	0.35959	0.53	B	0.31101	0.124	T	0.21143	-1.0254	10	0.23302	T	0.38	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	Q	396	ENSP00000342118:R396Q	ENSP00000342118:R396Q	R	-	2	0	0	HHIPL2	220780238	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-6.301014	1	0.170000	NM_024746			128	126		365	361	1		1	0		0	0	85	0		1	0	0	0	0	1	0	128	365
HHIPL2	79802	broad.mit.edu	37	1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	30					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAACAAGAATATGAGGCAGAG	0.592																																						ENST00000343410.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(88-90)aTa>aCa		HHIP-like 2							40.0	46.0	44.0					1																	222721298		1920	4125	6045	SO:0001583	missense	79802	0	0					g.chr1:222721298A>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.89T>C	chr1.hg19:g.222721298A>G	ENSP00000342118:p.Ile30Thr	1						p.I30T	NM_024746.3	NP_079022.2	2	2	4	2.271400	Q6UWX4	HIPL2_HUMAN		1	147	-			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	1	1	hg19	c.89T>C	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708145	0.15239	.	.	ENSG00000143512	ENST00000343410	T	0.18960	2.18	4.79	-2.02	0.07388	4.79	-2.02	0.07388	.	1.115640	0.06652	N	0.762871	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.10111	T	0.7	1.0583	8.3151	0.32095	0.7117:0.0:0.2883:0.0	.	30	Q6UWX4	HIPL2_HUMAN	T	30	ENSP00000342118:I30T	ENSP00000342118:I30T	I	-	2	0	0	HHIPL2	220787921	220787921	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.261000	0.08694	-0.186000	0.10533	-0.337000	0.08149	ATA	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_024746			51	51		223	216	1		1	0		0	0	43	0		1	9.414173e-02	0	0	0	3	0	51	223
TAF1A	9015	broad.mit.edu	37	1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000352967.4	-	11	1525	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A|TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	446					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308																																						ENST00000352967.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1336-1338)gTa>gCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							72.0	74.0	73.0					1																	222732018		2201	4280	6481	SO:0001583	missense	9015	0	0					g.chr1:222732018A>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1337T>C	chr1.hg19:g.222732018A>G	ENSP00000327072:p.Val446Ala	1					TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	p.V446A	NM_005681.3	NP_005672.1	2	2	4	2.271400	Q15573	TAF1A_HUMAN		11	1525	-			B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	1	1	hg19	c.1337T>C	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	A	7.948	0.744260	0.15710	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T	0.56444	0.46;0.46	5.34	3.01	0.34805	5.34	3.01	0.34805	.	0.556195	0.17612	N	0.168045	T	0.40067	0.1102	L	0.41824	1.3	0.54753	D	0.999988	B	0.10296	0.003	B	0.11329	0.006	T	0.13872	-1.0493	10	0.35671	T	0.21	-3.4905	7.0501	0.25069	0.8182:0.0:0.1818:0.0	.	446	Q15573	TAF1A_HUMAN	A	332;446;446;332	ENSP00000339976:V446A;ENSP00000327072:V446A	ENSP00000339976:V446A	V	-	2	0	0	TAF1A	220798641	220798641	0.997000	0.39634	0.602000	0.28890	0.033000	0.12548	1.436000	0.34980	0.426000	0.26116	0.533000	0.62120	GTA	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.971110	1	0.170000	NM_005681			38	38		184	180	1		1	1		0	0	43	0		1	9.373038e-01	0	6	0	19	0	38	184
MIA3	375056	broad.mit.edu	37	1	222818937	222818937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	ENST00000344922.5	+	7	3544	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000340535.7_Silent_p.D51D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1173					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)				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)		CTGGGCCTGATTTTTATGGAC	0.378																																						ENST00000344922.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3517-3519)gaT>gaC		melanoma inhibitory activity family, member 3							222.0	194.0	203.0					1																	222818937		1893	4107	6000	SO:0001819	synonymous_variant	375056	0	0					g.chr1:222818937T>C		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.3519T>C	chr1.hg19:g.222818937T>C		1					MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000470521.1_3'UTR	p.D1173D	NM_198551.2	NP_940953.2	2	2	4	2.271400	Q5JRA6	MIA3_HUMAN		7	3544	+			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	0	1	hg19	c.3519T>C	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260406	0.23051	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.99	0.951	0.19579	5.99	0.951	0.19579	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	.	6.0638	0.19852	0.0:0.2641:0.1497:0.5862	.	.	.	.	L	756	.	.	F	+	1	0	0	MIA3	220885560	220885560	0.992000	0.36948	0.723000	0.30687	0.984000	0.73092	0.092000	0.15066	-0.089000	0.12484	0.482000	0.46254	TTT	2.758681e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_198551			48	47		97	97	0		1	1		0	0	36	0		1	1	0	53	0	120	0	48	97
DISP1	84976	broad.mit.edu	37	1	223176548	223176548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	603	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			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)		CCTTGCAGCACGCTGCCCTCT	0.448																																						ENST00000284476.6	1.000000	0.950000	1	9.900000e-01	0.990000	0.997570	0.990000	1.000000																										0				69						c.(1807-1809)caC>caT		dispatched homolog 1 (Drosophila)							162.0	147.0	152.0					1																	223176548		2203	4300	6503	SO:0001819	synonymous_variant	84976	10	121412	44				g.chr1:223176548C>T	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.1809C>T	chr1.hg19:g.223176548C>T		1						p.H603H	NM_032890.3	NP_116279.2	1	2	3	2.185793	Q96F81	DISP1_HUMAN		8	1973	+			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	1	1	hg19	c.1809C>T	CCDS1536.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-17.023580	1	0.170000	NM_032890			56	55		517	510	0		1	0		0	0	99	0		1	6.734364e-01	0	0	0	23	0	56	517
DISP1	84976	broad.mit.edu	37	1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1315					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592																																						ENST00000284476.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(3943-3945)Ctg>Atg		dispatched homolog 1 (Drosophila)							83.0	75.0	78.0					1																	223178682		2203	4300	6503	SO:0001583	missense	84976	0	0					g.chr1:223178682C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3943C>A	chr1.hg19:g.223178682C>A	ENSP00000284476:p.Leu1315Met	1						p.L1315M	NM_032890.3	NP_116279.2	1	2	3	2.185793	Q96F81	DISP1_HUMAN		8	4107	+			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	1	1	hg19	c.3943C>A	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894442	0.17613	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.7	4.79	0.61399	5.7	4.79	0.61399	.	0.600559	0.16431	N	0.214719	D	0.88224	0.6379	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.35353	0.201	T	0.80578	-0.1320	10	0.42905	T	0.14	-5.5401	9.0276	0.36239	0.155:0.7684:0.0:0.0766	.	1315	Q96F81	DISP1_HUMAN	M	1315	ENSP00000284476:L1315M	ENSP00000284476:L1315M	L	+	1	2	2	DISP1	221245305	221245305	0.074000	0.21230	0.148000	0.22405	0.349000	0.29174	0.348000	0.20031	1.410000	0.46936	-0.140000	0.14226	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-3.324811	1	0.170000	NM_032890			73	70		386	377	1		1	1		0	0	130	0		1	9.317475e-01	0	3	0	23	0	73	386
DISP1	84976	broad.mit.edu	37	1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1405					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.T1405M(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)		TTACTCAAAACGTGTTGCGAC	0.468																																						ENST00000284476.6	0.600000	0.180000	4.800000e-01	2.500000e-01	0.350000	0.372153	0.350000	0.330000																										1	Substitution - Missense(1)	p.T1405M(1)	large_intestine(1)	69						c.(4213-4215)aCg>aTg		dispatched homolog 1 (Drosophila)							75.0	77.0	77.0					1																	223178953		2203	4300	6503	SO:0001583	missense	84976	2	121412	33				g.chr1:223178953C>T	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.4214C>T	chr1.hg19:g.223178953C>T	ENSP00000284476:p.Thr1405Met	1						p.T1405M	NM_032890.3	NP_116279.2	1	2	3	2.185793	Q96F81	DISP1_HUMAN		8	4378	+			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	0	1	hg19	c.4214C>T	CCDS1536.1	0	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242354	0.22796	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.95	3.07	0.35406	5.95	3.07	0.35406	.	0.792616	0.12004	N	0.508572	T	0.79747	0.4499	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.24974	0.057	T	0.69405	-0.5154	10	0.59425	D	0.04	-8.4933	3.9118	0.09207	0.1214:0.5099:0.2353:0.1335	.	1405	Q96F81	DISP1_HUMAN	M	1405	ENSP00000284476:T1405M	ENSP00000284476:T1405M	T	+	2	0	0	DISP1	221245576	221245576	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.189000	0.17037	0.415000	0.25817	-0.119000	0.15052	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.169023	1	0.170000	NM_032890			10	10		362	353	0		1	0		0	0	90	0		9.965290e-01	2.108944e-01	0	1	0	28	0	10	362
TLR5	7100	broad.mit.edu	37	1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		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)			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)		AAGACAAACGATCTTTCTACT	0.473																																						ENST00000540964.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2260-2262)aTc>aGc		toll-like receptor 5							93.0	84.0	87.0					1																	223284113		2203	4300	6503	SO:0001583	missense	7100	0	0					g.chr1:223284113A>C		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.2261T>G	chr1.hg19:g.223284113A>C	ENSP00000440643:p.Ile754Ser	1					TLR5_ENST00000342210.6_Missense_Mutation_p.I754S	p.I754S			1	2	3	2.185793	O60602	TLR5_HUMAN		4	2722	-			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	1	1	hg19	c.2261T>G	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229929	0.22542	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.02446	4.29;4.29;4.29	5.81	0.124	0.14714	5.81	0.124	0.14714	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.406828	0.23030	N	0.052754	T	0.02649	0.0080	N	0.21282	0.65	0.09310	N	0.999992	B	0.14438	0.01	B	0.25987	0.065	T	0.41734	-0.9492	10	0.72032	D	0.01	.	10.65	0.45642	0.2819:0.0:0.7181:0.0	.	754	O60602	TLR5_HUMAN	S	754	ENSP00000440643:I754S;ENSP00000355846:I754S;ENSP00000340089:I754S	ENSP00000340089:I754S	I	-	2	0	0	TLR5	221350736	221350736	0.990000	0.36364	0.000000	0.03702	0.361000	0.29550	2.851000	0.48302	0.028000	0.15324	-0.280000	0.10049	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_003268			66	66		239	234	1		1	0		0	0	58	0		1	9.937588e-01	0	0	0	31	0	66	239
TLR5	7100	broad.mit.edu	37	1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5	347					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)			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)		TCCCCCAGAAGGTTATATGAC	0.363																																						ENST00000540964.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1039-1041)Ctt>Att		toll-like receptor 5							96.0	96.0	96.0					1																	223285335		2203	4300	6503	SO:0001583	missense	7100	0	0					g.chr1:223285335G>T		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.1039C>A	chr1.hg19:g.223285335G>T	ENSP00000440643:p.Leu347Ile	1					TLR5_ENST00000342210.6_Missense_Mutation_p.L347I	p.L347I			1	2	3	2.185793	O60602	TLR5_HUMAN		4	1500	-			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	1	1	hg19	c.1039C>A	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734583	0.69189	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57907	0.37;0.37;0.37	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.068294	0.64402	D	0.000019	T	0.64972	0.2647	L	0.48260	1.515	0.58432	D	0.999991	D	0.76494	0.999	D	0.83275	0.996	T	0.65496	-0.6154	10	0.56958	D	0.05	.	12.5837	0.56406	0.076:0.0:0.9239:0.0	.	347	O60602	TLR5_HUMAN	I	347	ENSP00000440643:L347I;ENSP00000355846:L347I;ENSP00000340089:L347I	ENSP00000340089:L347I	L	-	1	0	0	TLR5	221351958	221351958	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	5.120000	0.64685	2.537000	0.85549	0.644000	0.83932	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_003268			102	101		533	523	1		1	1		0	0	112	0		1	9.144080e-01	0	2	0	22	0	102	533
SUSD4	55061	broad.mit.edu	37	1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		ATGAATCTCAGCATCTTCGAT	0.388																																						ENST00000343846.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(388-390)gCt>gTt		sushi domain containing 4							192.0	165.0	174.0					1																	223441990		2203	4300	6503	SO:0001583	missense	55061	0	0					g.chr1:223441990G>A	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.389C>T	chr1.hg19:g.223441990G>A	ENSP00000344219:p.Ala130Val	1					SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V	p.A130V			1	2	3	2.185793	Q5VX71	SUSD4_HUMAN		3	1022	-			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	1	1	hg19	c.389C>T	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966494	0.92855	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.66995	-0.24;-0.24;-0.24	5.91	5.91	0.95273	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000205	T	0.76659	0.4018	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;0.987;0.999	T	0.76260	-0.3024	10	0.54805	T	0.06	-17.2517	19.2811	0.94053	0.0:0.0:1.0:0.0	.	59;130;130	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	V	130;130;59;130;130	ENSP00000344219:A130V;ENSP00000355843:A130V;ENSP00000339926:A130V	ENSP00000271787:A130V	A	-	2	0	0	SUSD4	221508613	221508613	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.463000	0.80869	2.802000	0.96397	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_017982			111	109		368	362	1		1	0		0	0	93	0		1	9.620752e-01	0	0	0	20	0	111	368
SUSD4	55061	broad.mit.edu	37	1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		TGAAATCGGGCTACAGAGCCT	0.512																																						ENST00000343846.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(241-243)Gcc>Tcc		sushi domain containing 4							92.0	100.0	97.0					1																	223465901		2203	4300	6503	SO:0001583	missense	55061	0	0					g.chr1:223465901C>A	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.241G>T	chr1.hg19:g.223465901C>A	ENSP00000344219:p.Ala81Ser	1					SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S	p.A81S			1	2	3	2.185793	Q5VX71	SUSD4_HUMAN		2	874	-			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	1	1	hg19	c.241G>T	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831577	0.50845	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	-1.69	0.08186	5.36	-1.69	0.08186	Complement control module (2);Sushi/SCR/CCP (3);	0.782085	0.11216	N	0.587210	T	0.51736	0.1692	L	0.56280	1.765	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15484	0.003;0.013	T	0.46048	-0.9219	10	0.87932	D	0	-9.9019	6.24	0.20785	0.1737:0.5783:0.0:0.248	.	81;81	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	S	81	ENSP00000344219:A81S;ENSP00000355843:A81S;ENSP00000339926:A81S	ENSP00000271787:A81S	A	-	1	0	0	SUSD4	221532524	221532524	0.949000	0.32298	0.931000	0.37212	0.952000	0.60782	0.340000	0.19892	-0.230000	0.09840	-0.340000	0.08031	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-12.720020	1	0.170000	NM_017982			224	220		539	533	1		1	0		0	0	101	0		1	4.594034e-01	0	0	0	5	0	224	539
CCDC185	164127	broad.mit.edu	37	1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632																																						ENST00000366875.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(799-801)Ctc>Ttc									26.0	26.0	26.0					1																	223567616		2202	4300	6502	SO:0001583	missense	0	0	0					g.chr1:223567616C>T																												ENST00000366875.3:c.799C>T	chr1.hg19:g.223567616C>T	ENSP00000355840:p.Leu267Phe	1						p.L267F	NM_152610.2	NP_689823.2	1	2	3	2.185793	Q8N715	CC185_HUMAN		1	902	+			Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	1	1	hg19	c.799C>T	CCDS1537.1	1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310041	0.23821	.	.	ENSG00000178395	ENST00000366875	T	0.26223	1.75	4.79	4.79	0.61399	4.79	4.79	0.61399	.	.	.	.	.	T	0.43456	0.1248	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.21724	-1.0237	9	0.38643	T	0.18	.	9.0497	0.36369	0.0:0.8993:0.0:0.1007	.	267	Q8N715	CA065_HUMAN	F	267	ENSP00000355840:L267F	ENSP00000355840:L267F	L	+	1	0	0	C1orf65	221634239	221634239	1.000000	0.71417	0.429000	0.26710	0.146000	0.21551	2.764000	0.47613	2.161000	0.67846	0.650000	0.86243	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				40	39		144	143	1		1			0	0	44	0		1	0	0	0	0	0	0	40	144
CDC42	998	broad.mit.edu	37	1	22417980	22417980	+	Silent	SNP	G	G	A	rs16826564	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	182					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)			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)		CTCCAGAACCGAAGAAGAGCC	0.458																																						ENST00000344548.3	1.000000	0.630000	9.600000e-01	7.400000e-01	0.860000	0.856916	0.860000	0.930000																										0				12						c.(544-546)ccG>ccA		cell division cycle 42							55.0	59.0	58.0					1																	22417980		2203	4300	6503	SO:0001819	synonymous_variant	998	4	121410	37				g.chr1:22417980G>A	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.546G>A	chr1.hg19:g.22417980G>A		1					CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	p.P182P	NM_001039802.1	NP_001034891.1	0	1	1	1.828421	P60953	CDC42_HUMAN		7	797	+		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)	P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	1	1	hg19	c.546G>A	CCDS221.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.318793	1	0.170000	NM_001791			30	30		308	304	0		1	1		0	0	65	0		1	1	0	119	0	1054	0	30	308
TP53BP2	7159	broad.mit.edu	37	1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000343537.7	-	13	2978	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R767H|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	890	Mediates interaction with APC2.|Pro-rich.				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)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537																																						ENST00000343537.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2686-2688)cGc>cAc		tumor protein p53 binding protein 2							55.0	61.0	59.0					1																	223983554		2203	4300	6503	SO:0001583	missense	7159	0	0					g.chr1:223983554C>T	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.2687G>A	chr1.hg19:g.223983554C>T	ENSP00000341957:p.Arg896His	1					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R767H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H	p.R896H	NM_001031685.2	NP_001026855.2	1	2	3	2.185793	Q13625	ASPP2_HUMAN		13	2978	-			B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	1	1	hg19	c.2687G>A	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606642	0.66558	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.50548	0.83;1.0;0.74	5.37	4.46	0.54185	5.37	4.46	0.54185	Src homology-3 domain (1);	0.268229	0.43260	N	0.000590	T	0.46308	0.1386	L	0.48362	1.52	0.47584	D	0.999461	P;P	0.50943	0.94;0.94	P;P	0.45639	0.488;0.488	T	0.43956	-0.9359	10	0.44086	T	0.13	.	13.9612	0.64180	0.0:0.9267:0.0:0.0733	.	896;890	B4DG66;Q13625	.;ASPP2_HUMAN	H	767;896;129	ENSP00000375750:R767H;ENSP00000341957:R896H;ENSP00000375751:R129H	ENSP00000341957:R896H	R	-	2	0	0	TP53BP2	222050177	222050177	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.469000	0.53093	1.272000	0.44329	0.563000	0.77884	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_001031685, NM_005426			94	91		357	353	1		1	1	1	0	0	77	789		1	1	1	38	227	80	757	94	357
WNT4	54361	broad.mit.edu	37	1	22447815	22447815	+	Silent	SNP	G	G	A	rs199545625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	159					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0					ENST00000290167.6	1.000000	0.930000	1	9.600000e-01	0.980000	0.987282	0.980000	0.990000																										0				8						c.(475-477)atC>atT		wingless-type MMTV integration site family, member 4		G		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	97.0		477	3.4	1.0	1		97	0,8600		0,0,4300	no	coding-synonymous	WNT4	NM_030761.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		159/352	22447815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54361	2	121412	34				g.chr1:22447815G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.477C>T	chr1.hg19:g.22447815G>A		1					WNT4_ENST00000542383.1_Silent_p.I104I	p.I159I	NM_030761.4	NP_110388.2	0	1	1	1.828421	P56705	WNT4_HUMAN		4	520	-		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)	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	1	1	hg19	c.477C>T	CCDS223.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2	0	0	1		19	5	2	1		1	1	68		68	68	1	2.060000	-4.277786	1	0.170000				90	88		312	307	1		1	0		1	0	68	0		1	9.990809e-01	0	2	0	62	0	90	312
DEGS1	8560	broad.mit.edu	37	1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	300					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388																																						ENST00000323699.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(898-900)ttT>ttG		delta(4)-desaturase, sphingolipid 1							87.0	80.0	82.0					1																	224380108		2203	4300	6503	SO:0001583	missense	8560	0	0					g.chr1:224380108T>G	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.900T>G	chr1.hg19:g.224380108T>G	ENSP00000316476:p.Phe300Leu	1					DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	p.F300L	NM_003676.3	NP_003667.1	1	2	3	2.185793	O15121	DEGS1_HUMAN		3	1066	+	Breast(184;0.193)			Missense_Mutation	SNP	ENST00000323699.4	1	1	hg19	c.900T>G	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429825	0.83776	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.55234	0.53;0.53	5.85	4.72	0.59763	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76793	-0.2828	9	.	.	.	.	7.8847	0.29642	0.0:0.2314:0.0:0.7686	.	300	O15121	DEGS1_HUMAN	L	300	ENSP00000316476:F300L;ENSP00000375749:F300L	.	F	+	3	2	2	DEGS1	222446731	222446731	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.652000	0.24888	1.038000	0.40049	0.459000	0.35465	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				78	78		164	158	1		1	1		0	0	52	0		1	1	0	121	0	357	0	78	164
WDR26	80232	broad.mit.edu	37	1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.P197S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	344						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333																																						ENST00000414423.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.997387	0.990000	1.000000																										0				18						c.(1030-1032)Cca>Tca		WD repeat domain 26							114.0	106.0	108.0					1																	224599257		2203	4300	6503	SO:0001583	missense	80232	0	0					g.chr1:224599257G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1030C>T	chr1.hg19:g.224599257G>A	ENSP00000408108:p.Pro344Ser	1					WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.P197S	p.P344S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	1	2	3	2.185793	Q9H7D7	WDR26_HUMAN		7	1223	-			A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	1	1	hg19	c.1030C>T	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88197	0.2881	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	328	Q9H7D7-2	.	S	344;197	ENSP00000408108:P344S;ENSP00000295024:P197S	ENSP00000295024:P197S	P	-	1	0	0	WDR26	222665880	222665880	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.695000	0.91970	0.563000	0.77884	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.075758	1	0.170000	NM_025160			33	33		278	271	1		1	1		0	0	58	0		1	1	0	27	0	226	0	33	278
WDR26	80232	broad.mit.edu	37	1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GCATGAGGAGAATGCACTAAA	0.338																																						ENST00000414423.2	1.000000	0.460000	1	6.300000e-01	0.840000	0.826304	0.840000	1.000000																										0				18						c.(562-564)Tct>Gct		WD repeat domain 26							76.0	73.0	74.0					1																	224619244		2203	4300	6503	SO:0001583	missense	80232	0	0					g.chr1:224619244A>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.562T>G	chr1.hg19:g.224619244A>C	ENSP00000408108:p.Ser188Ala	1					WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	p.S188A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	1	2	3	2.185793	Q9H7D7	WDR26_HUMAN		3	755	-			A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	1	1	hg19	c.562T>G	CCDS31037.2	0	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943220	0.73672	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.59	5.59	0.84812	5.59	5.59	0.84812	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77103	2.36	0.50632	D	0.999889	B;B	0.29188	0.185;0.236	B;B	0.23716	0.032;0.048	T	0.64407	-0.6415	10	0.23302	T	0.38	.	15.7686	0.78146	1.0:0.0:0.0:0.0	.	188;188	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	188;41;188;41	ENSP00000408108:S188A;ENSP00000295024:S41A	ENSP00000295024:S41A	S	-	1	0	0	WDR26	222685867	222685867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.122000	0.65172	0.460000	0.39030	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-5.682495	1	0.170000	NM_025160			12	12		173	170	1		1	1		0	0	31	0		9.991310e-01	9.994688e-01	0	21	0	177	0	12	173
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A	rs199675363		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					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)			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)		TACTCGTCACGAGCTTCTCGG	0.403																																						ENST00000338179.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1756-1758)Cgt>Tgt		lamin B receptor							98.0	96.0	97.0					1																	225591097		2203	4300	6503	SO:0001583	missense	3930	1	121412	33				g.chr1:225591097G>A	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.1756C>T	chr1.hg19:g.225591097G>A	ENSP00000339883:p.Arg586Cys	1					LBR_ENST00000272163.4_Missense_Mutation_p.R586C	p.R586C	NM_194442.2	NP_919424.1	1	2	3	2.185793	Q14739	LBR_HUMAN		14	1881	-	Breast(184;0.165)		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	1	1	hg19	c.1756C>T	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760754	0.89932	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99259	-5.64;-5.64	6.16	6.16	0.99307	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	-21.4596	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	586	Q14739	LBR_HUMAN	C	586	ENSP00000272163:R586C;ENSP00000339883:R586C	ENSP00000272163:R586C	R	-	1	0	0	LBR	223657720	223657720	1.000000	0.71417	0.263000	0.24496	0.792000	0.44763	7.718000	0.84743	2.937000	0.99478	0.650000	0.86243	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-5.603656	1	0.170000	NM_002296			98	95		287	278	1		1	1		0	0	75	0		1	1	0	68	0	119	0	98	287
EPHX1	2052	broad.mit.edu	37	1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	272					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547																																						ENST00000366837.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.997404	0.990000	1.000000																										0				28						c.(814-816)Ctt>Att		epoxide hydrolase 1, microsomal (xenobiotic)							191.0	171.0	178.0					1																	226027621		2203	4300	6503	SO:0001583	missense	2052	0	0					g.chr1:226027621C>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.814C>A	chr1.hg19:g.226027621C>A	ENSP00000355802:p.Leu272Ile	1					RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	p.L272I	NM_000120.3	NP_000111.1	1	2	3	2.185793	P07099	HYEP_HUMAN		6	1010	+	Breast(184;0.197)		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	1	1	hg19	c.814C>A	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435926	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.62232	0.04;0.04	5.57	-6.85	0.01681	5.57	-6.85	0.01681	Alpha/beta hydrolase fold-1 (1);	0.643450	0.16488	N	0.212251	T	0.43919	0.1269	L	0.46741	1.465	0.09310	N	0.99999	B	0.23540	0.087	B	0.27076	0.076	T	0.43734	-0.9373	10	0.12103	T	0.63	-5.3139	9.0791	0.36540	0.0:0.4664:0.1095:0.424	.	272	P07099	HYEP_HUMAN	I	272	ENSP00000272167:L272I;ENSP00000355802:L272I	ENSP00000272167:L272I	L	+	1	0	0	EPHX1	224094244	224094244	0.481000	0.25941	0.000000	0.03702	0.002000	0.02628	0.763000	0.26517	-1.000000	0.03438	-0.423000	0.05987	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-19.122340	1	0.170000	NM_000120			70	69		670	656	0		1	1		0	0	144	0		1	1	0	19	0	250	0	70	670
LEFTY2	7044	broad.mit.edu	37	1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	229					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(685-687)Ggg>Agg		left-right determination factor 2							13.0	15.0	14.0					1																	226127113		2198	4289	6487	SO:0001583	missense	7044	0	0					g.chr1:226127113C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.685G>A	chr1.hg19:g.226127113C>T	ENSP00000355785:p.Gly229Arg	1					RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	p.G229R	NM_003240.3	NP_003231.2	1	2	3	2.185793	O00292	LFTY2_HUMAN		3	1033	-	Breast(184;0.197)		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	1	1	hg19	c.685G>A	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	c	7.488	0.650146	0.14516	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68331	-0.08;-0.32	4.47	2.49	0.30216	4.47	2.49	0.30216	.	0.699335	0.14840	N	0.295316	T	0.37625	0.1010	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.20046	T	0.44	.	2.3429	0.04264	0.2456:0.4717:0.0:0.2827	.	195;229	E9PDM4;O00292	.;LFTY2_HUMAN	R	195;229	ENSP00000388009:G195R;ENSP00000355785:G229R	ENSP00000355785:G229R	G	-	1	0	0	LEFTY2	224193736	224193736	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.028000	0.12350	0.952000	0.37798	0.561000	0.74099	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	1	0	1		2	2	2	0		0	0	21		21	27	1	2.060000	-20.000000	1	0.170000	NM_003240			41	41		126	120	0		1			0	0	21	0		1	0	0	0	0	0	0	41	126
LEFTY2	7044	broad.mit.edu	37	1	226128787	226128787	+	Silent	SNP	G	G	A	rs370508860		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000420304.2_Silent_p.P18P|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	18					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(52-54)ccC>ccT		left-right determination factor 2		G	,	1,4325		0,1,2162	8.0	10.0	9.0		54,54	-9.9	0.0	1		9	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	LEFTY2	NM_001172425.1,NM_003240.3	,	0,1,6396	AA,AG,GG		0.0,0.0231,0.0078	,	18/333,18/367	226128787	1,12793	2163	4234	6397	SO:0001819	synonymous_variant	7044	3	119786	29				g.chr1:226128787G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.54C>T	chr1.hg19:g.226128787G>A		1					LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.P18P	p.P18P	NM_003240.3	NP_003231.2	1	2	3	2.185793	O00292	LFTY2_HUMAN		1	402	-	Breast(184;0.197)		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	1	1	hg19	c.54C>T	CCDS1549.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-20.000000	1	0.170000	NM_003240			35	34		85	83	0		1			0	0	16	0		1	0	0	0	0	0	0	35	85
ACBD3	64746	broad.mit.edu	37	1	226347059	226347059	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	243	Gln-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)			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)		TTATCTGCTGCCTAAAAACAT	0.388																																						ENST00000366812.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(727-729)aaG>aaT		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746	0	0					g.chr1:226347059C>A	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.729-1G>T	chr1.hg19:g.226347059C>A		1					ACBD3_ENST00000464927.1_Intron	p.K243N	NM_022735.3	NP_073572.2	1	2	3	2.185793	Q9H3P7	GCP60_HUMAN		5	783	-	Breast(184;0.158)		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	SNP	ENST00000366812.5	1	0	hg19	c.729G>T	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818545	0.71028	.	.	ENSG00000182827	ENST00000366812	T	0.47869	0.83	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.095038	0.64402	D	0.000001	T	0.70937	0.3281	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.72984	-0.4125	10	0.72032	D	0.01	.	19.8989	0.96978	0.0:1.0:0.0:0.0	.	243	Q9H3P7	GCP60_HUMAN	N	243	ENSP00000355777:K243N	ENSP00000355777:K243N	K	-	3	2	2	ACBD3	224413682	224413682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.706000	0.92434	0.555000	0.69702	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_022735	Missense_Mutation		59	57		323	318	0		1	1		0	0	69	0		1	1	0	20	0	210	0	59	323
MIXL1	83881	broad.mit.edu	37	1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G|MIXL1_ENST00000557734.1_Intron			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	196					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(586-588)gAc>gGc		Mix paired-like homeobox							91.0	95.0	94.0					1																	226413401		2203	4300	6503	SO:0001583	missense	83881	0	0					g.chr1:226413401A>G	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.587A>G	chr1.hg19:g.226413401A>G	ENSP00000355775:p.Asp196Gly	1					MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G	p.D196G			1	2	3	2.185793	Q9H2W2	MIXL1_HUMAN		2	651	+	Breast(184;0.158)		B7ZLF9	Missense_Mutation	SNP	ENST00000366810.5	1	1	hg19	c.587A>G	CCDS1552.1	1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341473	0.24339	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15718	2.4;2.4	5.73	1.64	0.23874	5.73	1.64	0.23874	.	0.898506	0.09278	N	0.824101	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.19590	T	0.45	-1.7763	3.934	0.09298	0.6419:0.0:0.1909:0.1672	.	196	Q9H2W2	MIXL1_HUMAN	G	204;196	ENSP00000442439:D204G;ENSP00000355775:D196G	ENSP00000355775:D196G	D	+	2	0	0	MIXL1	224480024	224480024	0.001000	0.12720	0.003000	0.11579	0.956000	0.61745	0.696000	0.25541	0.413000	0.25759	0.533000	0.62120	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000				185	183		482	474	1		1	0		0	0	96	0		1	1.893127e-01	0	0	0	3	0	185	482
MIXL1	83881	broad.mit.edu	37	1	226413512	226413512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000542034.1_Silent_p.*241*|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	0					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTAACTTTTGAGGATTCTGG	0.468																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5	0.450000	0.210000	3.900000e-01	2.600000e-01	0.320000	0.330350	0.320000	0.330000																										0				1						c.(697-699)tGa>tAa		Mix paired-like homeobox							121.0	118.0	119.0					1																	226413512		2203	4300	6503	SO:0001819	synonymous_variant	83881	0	0					g.chr1:226413512G>A	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.698G>A	chr1.hg19:g.226413512G>A		1					MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*	p.*233*			1	2	3	2.185793	Q9H2W2	MIXL1_HUMAN		2	762	+	Breast(184;0.158)		B7ZLF9	Silent	SNP	ENST00000366810.5	0	1	hg19	c.698G>A	CCDS1552.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3	0	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-2.570574	1	0.170000				26	25		1012	989	0		1	0		0	0	162	0		9.999999e-01	9.721784e-03	0	0	0	6	0	26	1012
LIN9	286826	broad.mit.edu	37	1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	281					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)				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)		GCAGCAATTGGCATTGTCTCA	0.363																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(889-891)Cca>Tca		lin-9 DREAM MuvB core complex component							58.0	58.0	58.0					1																	226454009		2203	4300	6503	SO:0001583	missense	286826	0	0					g.chr1:226454009G>A	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.889C>T	chr1.hg19:g.226454009G>A	ENSP00000329102:p.Pro297Ser	1					LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	p.P297S	NM_173083.3	NP_775106.2	1	2	3	2.185793	Q5TKA1	LIN9_HUMAN		9	1434	-	Breast(184;0.158)		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	1	1	hg19	c.889C>T	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005920	0.54254	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.33485	1.01	0.80722	D	1	B;B;P	0.37330	0.15;0.11;0.59	B;B;B	0.34180	0.027;0.057;0.177	T	0.39482	-0.9612	9	0.25106	T	0.35	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	262;281;431	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	257;297;352;246;262;431	.	ENSP00000329102:P297S	P	-	1	0	0	LIN9	224520632	224520632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.584000	0.90798	2.763000	0.94921	0.561000	0.74099	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_173083			37	36		97	96	1		1	1		0	0	37	0		1	9.916373e-01	0	9	0	13	0	37	97
PARP1	142	broad.mit.edu	37	1	226553752	226553752	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	803	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2407-2409)gTg>gCg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							100.0	81.0	87.0					1																	226553752		2203	4300	6503	SO:0001630	splice_region_variant	142	0	0					g.chr1:226553752A>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2407-1T>C	chr1.hg19:g.226553752A>G		1					PARP1_ENST00000490921.1_5'UTR	p.V803A	NM_001618.3	NP_001609.2	1	2	3	2.185793	P09874	PARP1_HUMAN		18	2551	-	Breast(184;0.133)		B1ANJ4|Q8IUZ9	Splice_Site	SNP	ENST00000366794.5	1	0	hg19	c.2408T>C	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319665	0.60524	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.68	5.68	0.88126	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43923	1.385	0.80722	D	1	P	0.39022	0.655	B	0.38327	0.271	T	0.04870	-1.0921	10	0.27082	T	0.32	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	803	P09874	PARP1_HUMAN	A	803	ENSP00000355759:V803A	ENSP00000355759:V803A	V	-	2	0	0	PARP1	224620375	224620375	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	8.253000	0.89842	2.177000	0.69029	0.528000	0.53228	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_001618	Missense_Mutation		48	46		167	164	1		1	1		0	0	37	0		1	1	0	139	0	224	0	48	167
PARP1	142	broad.mit.edu	37	1	226566902	226566902	+	Silent	SNP	G	G	A	rs534105862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	562					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					G|||	1	0.000199681	0.0	0.0	5008	,	,		22184	0.001		0.0	False		,,,				2504	0.0					ENST00000366794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1684-1686)atC>atT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							213.0	186.0	195.0					1																	226566902		2203	4300	6503	SO:0001819	synonymous_variant	142	9	121412	44				g.chr1:226566902G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1686C>T	chr1.hg19:g.226566902G>A		1						p.I562I	NM_001618.3	NP_001609.2	1	2	3	2.185793	P09874	PARP1_HUMAN		12	1829	-	Breast(184;0.133)		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	1	1	hg19	c.1686C>T	CCDS1554.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1		2	2	2	0		0	0	139		139	135	1	2.060000	-20.000000	1	0.170000	NM_001618			194	192		558	549	0		1	1		0	0	139	0		1	1	0	131	0	227	0	194	558
PARP1	142	broad.mit.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S306S(1)	large_intestine(1)	44						c.(916-918)agC>agT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							122.0	102.0	109.0					1																	226573298		2203	4300	6503	SO:0001819	synonymous_variant	142	1	121412	36				g.chr1:226573298G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	chr1.hg19:g.226573298G>A		1						p.S306S	NM_001618.3	NP_001609.2	1	2	3	2.185793	P09874	PARP1_HUMAN		7	1061	-	Breast(184;0.133)		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	1	1	hg19	c.918C>T	CCDS1554.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_001618			104	99		351	345	1		1	1		0	0	93	0		1	1	0	108	0	207	0	104	351
PARP1	142	broad.mit.edu	37	1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	78					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(232-234)Cgg>Tgg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							99.0	86.0	91.0					1																	226589969		2203	4300	6503	SO:0001583	missense	142	1	121412	33				g.chr1:226589969G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.232C>T	chr1.hg19:g.226589969G>A	ENSP00000355759:p.Arg78Trp	1					PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W	p.R78W	NM_001618.3	NP_001609.2	1	2	3	2.185793	P09874	PARP1_HUMAN		2	375	-	Breast(184;0.133)		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	1	1	hg19	c.232C>T	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333371	0.81801	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.2	3.25	0.37280	5.2	3.25	0.37280	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80450	-0.1377	10	0.87932	D	0	.	14.6497	0.68786	0.0:0.0:0.797:0.203	.	78	P09874	PARP1_HUMAN	W	78	ENSP00000355759:R78W;ENSP00000355757:R78W;ENSP00000355756:R78W;ENSP00000355755:R78W	ENSP00000355755:R78W	R	-	1	2	2	PARP1	224656592	224656592	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.067000	0.57527	0.486000	0.27676	0.650000	0.86243	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_001618			67	66		353	350	1		1	1		0	0	71	0		1	1	0	90	0	247	0	67	353
ITPKB	3707	broad.mit.edu	37	1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000272117.3	-	3	2208	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	737					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607																																					Colon(84;110 1851 5306 33547)	ENST00000272117.3	1.000000	0.620000	1	7.600000e-01	0.920000	0.895559	0.920000	1.000000																										0				30						c.(2209-2211)Gac>Aac		inositol-trisphosphate 3-kinase B							177.0	122.0	141.0					1																	226834905		2203	4300	6503	SO:0001583	missense	3707	0	0					g.chr1:226834905C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2209G>A	chr1.hg19:g.226834905C>T	ENSP00000272117:p.Asp737Asn	1					ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N	p.D737N			1	2	3	2.185793	P27987	IP3KB_HUMAN		3	2208	-		Prostate(94;0.0773)	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	1	1	hg19	c.2209G>A	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802088	0.90538	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16597	2.33;2.33	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.71206	2.165	0.51767	D	0.999931	D	0.76494	0.999	D	0.66084	0.941	T	0.16394	-1.0404	10	0.48119	T	0.1	-13.0163	19.1764	0.93604	0.0:1.0:0.0:0.0	.	737	P27987	IP3KB_HUMAN	N	737	ENSP00000272117:D737N;ENSP00000411152:D737N	ENSP00000272117:D737N	D	-	1	0	0	ITPKB	224901528	224901528	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.847000	0.69451	2.540000	0.85666	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.318798	1	0.170000	NM_002221			28	28		362	357	0		1	0		0	0	60	0		1	8.023731e-01	0	0	0	41	0	28	362
ITPKB	3707	broad.mit.edu	37	1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000272117.3	-	3	2064	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	689					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602																																					Colon(84;110 1851 5306 33547)	ENST00000272117.3	1.000000	0.840000	1	9.900000e-01	0.990000	0.989926	0.990000	1.000000																										0				30						c.(2065-2067)Ctg>Atg		inositol-trisphosphate 3-kinase B							69.0	62.0	64.0					1																	226835049		2203	4300	6503	SO:0001583	missense	3707	0	0					g.chr1:226835049G>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2065C>A	chr1.hg19:g.226835049G>T	ENSP00000272117:p.Leu689Met	1					ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M	p.L689M			1	2	3	2.185793	P27987	IP3KB_HUMAN		3	2064	-		Prostate(94;0.0773)	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	1	1	hg19	c.2065C>A	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660264	0.67586	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16743	2.32;2.32	5.19	4.06	0.47325	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.85630	2.765	0.49130	D	0.999755	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.72032	D	0.01	-14.7074	14.6107	0.68514	0.0829:0.0:0.9171:0.0	.	689	P27987	IP3KB_HUMAN	M	689	ENSP00000272117:L689M;ENSP00000411152:L689M	ENSP00000272117:L689M	L	-	1	2	2	ITPKB	224901672	224901672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.320000	0.72876	2.429000	0.82318	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	0		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	NM_002221			18	18		153	144	1		1	0		0	0	33	0		9.999784e-01	7.913230e-01	0	0	0	27	0	18	153
ITPKB	3707	broad.mit.edu	37	1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000272117.3	-	3	2036	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	679					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622																																					Colon(84;110 1851 5306 33547)	ENST00000272117.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(2035-2037)agT>agG		inositol-trisphosphate 3-kinase B							46.0	45.0	45.0					1																	226835077		2203	4300	6503	SO:0001583	missense	3707	0	0					g.chr1:226835077A>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2037T>G	chr1.hg19:g.226835077A>C	ENSP00000272117:p.Ser679Arg	1					ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R	p.S679R			1	2	3	2.185793	P27987	IP3KB_HUMAN		3	2036	-		Prostate(94;0.0773)	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	1	1	hg19	c.2037T>G	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589483	0.66105	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14266	2.52;2.52	5.19	-3.39	0.04868	5.19	-3.39	0.04868	.	0.039060	0.85682	D	0.000000	T	0.27765	0.0683	M	0.61703	1.905	0.52099	D	0.999941	D	0.89917	1.0	D	0.73708	0.981	T	0.01977	-1.1236	10	0.72032	D	0.01	-15.5533	12.5148	0.56026	0.7588:0.0:0.2412:0.0	.	679	P27987	IP3KB_HUMAN	R	679	ENSP00000272117:S679R;ENSP00000411152:S679R	ENSP00000272117:S679R	S	-	3	2	2	ITPKB	224901700	224901700	0.028000	0.19301	0.987000	0.45799	0.809000	0.45718	-0.661000	0.05311	-0.545000	0.06224	0.533000	0.62120	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	0		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_002221			24	22		95	94	0		1	1		0	0	21	0		9.999998e-01	9.891406e-01	0	4	0	28	0	24	95
ITPKB	3707	broad.mit.edu	37	1	226925067	226925067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226925067G>A	ENST00000272117.3	-	1	92	c.93C>T	c.(91-93)agC>agT	p.S31S	ITPKB_ENST00000429204.1_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	31					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCGTCTCGCTGCCACTGG	0.662																																					Colon(84;110 1851 5306 33547)	ENST00000272117.3	0.890000	0.220000	6.900000e-01	3.300000e-01	0.490000	0.521539	0.490000	0.460000																										0				30						c.(91-93)agC>agT		inositol-trisphosphate 3-kinase B							8.0	10.0	10.0					1																	226925067		2062	4062	6124	SO:0001819	synonymous_variant	3707	2	118622	32				g.chr1:226925067G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.93C>T	chr1.hg19:g.226925067G>A		1					ITPKB_ENST00000429204.1_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S	p.S31S			1	2	3	2.185793	P27987	IP3KB_HUMAN		1	92	-		Prostate(94;0.0773)	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	0	1	hg19	c.93C>T	CCDS1555.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-9.781524	1	0.170000	NM_002221			7	7		183	180	0		1	0		0	0	26	0		9.800973e-01	1.943005e-03	0	0	0	2	0	7	183
PSEN2	5664	broad.mit.edu	37	1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366783.3	+	9	1278	c.842C>T	c.(841-843)gCc>gTc	p.A281V	PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000366782.1_Missense_Mutation_p.A314V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	281					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582																																						ENST00000366783.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(841-843)gCc>gTc		presenilin 2							145.0	127.0	133.0					1																	227077790		2203	4300	6503	SO:0001583	missense	5664	0	0					g.chr1:227077790C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.842C>T	chr1.hg19:g.227077790C>T	ENSP00000355747:p.Ala281Val	1					PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000366782.1_Missense_Mutation_p.A314V	p.A281V	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	1	2	3	2.185793	P49810	PSN2_HUMAN		9	1278	+		Prostate(94;0.0771)	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	1	1	hg19	c.842C>T	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.372828	0.95923	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.89534	3.04	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.71414	0.855;0.973	D	0.96683	0.9505	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	281;281	A8K8D4;P49810	.;PSN2_HUMAN	V	281;281;108;314;314;137	ENSP00000355747:A281V;ENSP00000403737:A281V;ENSP00000427912:A108V;ENSP00000355746:A314V;ENSP00000375745:A314V;ENSP00000427806:A137V	ENSP00000355746:A314V	A	+	2	0	0	PSEN2	225144413	225144413	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.709000	0.84645	2.460000	0.83146	0.563000	0.77884	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_000447			89	87		490	484	1		1	1		0	0	121	0		1	9.999990e-01	0	26	0	83	0	89	490
CDC42BPA	8476	broad.mit.edu	37	1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274																																						ENST00000366769.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.989779	0.990000	1.000000																										0				77						c.(4474-4476)aCc>aAc		CDC42 binding protein kinase alpha (DMPK-like)							46.0	47.0	46.0					1																	227210999		2192	4289	6481	SO:0001583	missense	8476	0	0					g.chr1:227210999G>T	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.4475C>A	chr1.hg19:g.227210999G>T	ENSP00000355731:p.Thr1492Asn	1					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	p.T1492N	NM_003607.3	NP_003598.2	1	2	3	2.185793				31	5766	-		all_cancers(173;0.156)|Prostate(94;0.0792)		Missense_Mutation	SNP	ENST00000366769.3	1	1	hg19	c.4475C>A	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.864684|3.864684	0.71949|0.71949	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.66460	.|-0.17;-0.17;-0.18;-0.18;-0.21;-0.18;-0.16	5.31|5.31	5.31|5.31	0.75309|0.75309	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77046|0.77046	0.4073|0.4073	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;P;D	.|0.89917	.|1.0;0.981;0.984;0.683;0.999;0.868;0.793;1.0	.|D;P;P;B;D;B;B;D	.|0.85130	.|0.997;0.74;0.67;0.402;0.986;0.284;0.284;0.997	T|T	0.71094|0.71094	-0.4692|-0.4692	5|10	.|0.21540	.|T	.|0.41	.|.	19.3466|19.3466	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1472;1464;807;389;1411;1492;1527;694	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	E|N	694;820;389;716|1492;1411;1492;1527;1464;807;1472;1505	.|ENSP00000355731:T1492N;ENSP00000355729:T1411N;ENSP00000335341:T1492N;ENSP00000355728:T1527N;ENSP00000355726:T1464N;ENSP00000443275:T1472N;ENSP00000355727:T1505N	.|ENSP00000335341:T1492N	D|T	-|-	3|2	2|0	2|0	CDC42BPA|CDC42BPA	225277622|225277622	225277622|225277622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.845000|8.845000	0.92153|0.92153	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAC|ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.982530	1	0.170000	NM_014826			14	14		112	110	1		1	1		0	0	25	0		9.997900e-01	9.985826e-01	0	20	0	73	0	14	112
CDC42BPA	8476	broad.mit.edu	37	1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A	rs267598394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393																																						ENST00000366769.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				77						c.(3823-3825)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							55.0	51.0	52.0					1																	227216862		2203	4300	6503	SO:0001583	missense	8476	0	0					g.chr1:227216862G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3823C>T	chr1.hg19:g.227216862G>A	ENSP00000355731:p.Arg1275Cys	1					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	p.R1275C	NM_003607.3	NP_003598.2	1	2	3	2.185793				29	5114	-		all_cancers(173;0.156)|Prostate(94;0.0792)		Missense_Mutation	SNP	ENST00000366769.3	1	1	hg19	c.3823C>T	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809480|4.809480	0.90707|0.90707	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.32|5.32	5.32|5.32	0.75619|0.75619	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.047547|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78456|0.78456	2.415|2.415	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;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.72982|.	0.949;0.972;0.977;0.977;0.947;0.979;0.979;0.969|.	T|T	0.77988|0.77988	-0.2380|-0.2380	10|5	0.87932|.	D|.	0|.	.|.	19.3729|19.3729	0.94495|0.94495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1255;1247;590;172;1194;1275;1310;477|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	C|L	1275;1194;1275;1310;1247;590;1255;1288|477;603;172;499	ENSP00000355731:R1275C;ENSP00000355729:R1194C;ENSP00000335341:R1275C;ENSP00000355728:R1310C;ENSP00000355726:R1247C;ENSP00000443275:R1255C;ENSP00000355727:R1288C|.	ENSP00000335341:R1275C|.	R|S	-|-	1|2	0|0	0|0	CDC42BPA|CDC42BPA	225283485|225283485	225283485|225283485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.830000|7.830000	0.86741|0.86741	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	CGT|TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.093016	1	0.170000	NM_014826			40	40		217	212	1		1	1		0	0	32	0		1	9.999982e-01	0	33	0	80	0	40	217
CDC42BPA	8476	broad.mit.edu	37	1	227261640	227261640	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227261640T>C	ENST00000366769.3	-	19	3951	c.2660A>G	c.(2659-2661)gAt>gGt	p.D887G	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTTCTGCATCCAGAGCCGA	0.393																																						ENST00000366769.3	0.340000	0.100000	2.800000e-01	1.400000e-01	0.200000	0.216261	0.200000	0.210000																										0				77						c.(2659-2661)gAt>gGt		CDC42 binding protein kinase alpha (DMPK-like)							149.0	147.0	148.0					1																	227261640		2203	4300	6503	SO:0001583	missense	8476	0	0					g.chr1:227261640T>C	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.2660A>G	chr1.hg19:g.227261640T>C	ENSP00000355731:p.Asp887Gly	1					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G	p.D887G	NM_003607.3	NP_003598.2	1	2	3	2.185793				19	3951	-		all_cancers(173;0.156)|Prostate(94;0.0792)		Missense_Mutation	SNP	ENST00000366769.3	0	1	hg19	c.2660A>G	CCDS1558.1	0	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776394	0.70107	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.74258	2.255	0.80722	D	1	D;D;B;D;B;B;D	0.76494	0.999;0.983;0.104;0.999;0.02;0.02;0.999	D;P;B;D;B;B;D	0.91635	0.998;0.857;0.143;0.986;0.03;0.03;0.999	T	0.67229	-0.5723	10	0.51188	T	0.08	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	887;887;151;806;887;887;89	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	G	887;806;887;887;887;151;887;887	ENSP00000355731:D887G;ENSP00000355729:D806G;ENSP00000335341:D887G;ENSP00000355728:D887G;ENSP00000355726:D887G;ENSP00000443275:D887G;ENSP00000355727:D887G	ENSP00000335341:D887G	D	-	2	0	0	CDC42BPA	225328263	225328263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.586000	0.82596	2.168000	0.68352	0.533000	0.62120	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	0	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-8.055516	1	0.170000	NM_014826			11	11		692	682	0		1	0		0	0	144	0		9.982073e-01	6.593370e-01	0	1	0	137	0	11	692
CDC42BPA	8476	broad.mit.edu	37	1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368																																						ENST00000366769.3	0.630000	0.200000	5.100000e-01	2.800000e-01	0.380000	0.399630	0.380000	0.360000																										0				77						c.(955-957)cGa>cAa		CDC42 binding protein kinase alpha (DMPK-like)							90.0	89.0	89.0					1																	227333377		2203	4300	6503	SO:0001583	missense	8476	1	121410	32				g.chr1:227333377C>T	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.956G>A	chr1.hg19:g.227333377C>T	ENSP00000355731:p.Arg319Gln	1					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q	p.R319Q	NM_003607.3	NP_003598.2	1	2	3	2.185793				8	2247	-		all_cancers(173;0.156)|Prostate(94;0.0792)		Missense_Mutation	SNP	ENST00000366769.3	0	1	hg19	c.956G>A	CCDS1558.1	0	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	0	CDC42BPA	225400000	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	0	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.147729	1	0.170000	NM_014826			11	11		367	362	0		1	1		0	0	74	0		9.982659e-01	8.708075e-01	0	7	0	117	0	11	367
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000343776.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R369I(1)	large_intestine(1)	24						c.(1105-1107)aGa>aTa		zinc finger protein 678							34.0	38.0	36.0					1																	227843057		2199	4295	6494	SO:0001583	missense	339500	3	121386	34				g.chr1:227843057G>T	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	chr1.hg19:g.227843057G>T	ENSP00000344828:p.Arg369Ile	1					ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	p.R369I	NM_178549.3	NP_848644.2	1	2	3	2.185793	Q5SXM1	ZN678_HUMAN		4	1451	+		Prostate(94;0.0885)	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	1	1	hg19	c.1106G>T		1	.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	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	0	ZNF678	225909680	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	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_178549			66	63		200	192	1		1	1		0	0	56	0		1	7.933931e-01	0	2	0	9	0	66	200
SNAP47	116841	broad.mit.edu	37	1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S|SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	380					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607																																						ENST00000366759.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1138-1140)Ggc>Agc		synaptosomal-associated protein, 47kDa							69.0	60.0	63.0					1																	227954674		2203	4300	6503	SO:0001583	missense	116841	0	0					g.chr1:227954674G>A	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.1138G>A	chr1.hg19:g.227954674G>A	ENSP00000355721:p.Gly380Ser	1					SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S|SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S	p.G380S	NM_053052.3	NP_444280.2	1	2	3	2.185793	Q5SQN1	SNP47_HUMAN		4	1552	+			B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	1	1	hg19	c.1138G>A	CCDS1562.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.151|4.151	0.026409|0.026409	0.08054|0.08054	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.43294	.|0.95;2.27;2.25	4.52|4.52	3.57|3.57	0.40892|0.40892	4.52|4.52	3.57|3.57	0.40892|0.40892	.|.	0.400770|0.400770	0.25040|0.25040	N|N	0.033613|0.033613	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;P	.|0.36535	.|0.301;0.408;0.301;0.557	.|B;B;B;B	.|0.31191	.|0.117;0.077;0.117;0.125	T|T	0.13575|0.13575	-1.0504|-1.0504	6|10	.|0.29301	.|T	.|0.29	-16.4939|-16.4939	9.3542|9.3542	0.38157|0.38157	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|380;192;380;138	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	E|S	192;371|138;380;380	.|ENSP00000355722:G138S;ENSP00000355721:G380S;ENSP00000314157:G380S	.|ENSP00000314157:G380S	G|G	+|+	2|1	0|0	0|0	SNAP47|SNAP47	226021297|226021297	226021297|226021297	0.995000|0.995000	0.38212|0.38212	0.222000|0.222000	0.23844|0.23844	0.263000|0.263000	0.26337|0.26337	3.928000|3.928000	0.56506|0.56506	1.057000|1.057000	0.40506|0.40506	0.555000|0.555000	0.69702|0.69702	GGG|GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_053052			63	63		187	184	1		1	1		0	0	40	0		1	1	0	41	0	82	0	63	187
WNT9A	7483	broad.mit.edu	37	1	228109546	228109546	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	257					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677																																						ENST00000272164.5	1.000000	0.760000	1	8.800000e-01	0.990000	0.959402	0.990000	1.000000																										0				19						c.(769-771)acC>acA		wingless-type MMTV integration site family, member 9A							54.0	55.0	55.0					1																	228109546		2203	4300	6503	SO:0001819	synonymous_variant	7483	0	0					g.chr1:228109546G>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.771C>A	chr1.hg19:g.228109546G>T		1						p.T257T	NM_003395.2	NP_003386.1	1	2	3	2.185793	O14904	WNT9A_HUMAN		4	781	-		Prostate(94;0.0405)	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	1	1	hg19	c.771C>A	CCDS31045.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-2.879461	1	0.170000	NM_003395			45	42		515	505	0		1	0		0	0	92	0		1	8.088930e-02	0	1	0	5	0	45	515
WNT3A	89780	broad.mit.edu	37	1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	293					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692																																						ENST00000284523.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(877-879)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							13.0	13.0	13.0					1																	228246984		2196	4295	6491	SO:0001583	missense	89780	0	0					g.chr1:228246984C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.877C>T	chr1.hg19:g.228246984C>T	ENSP00000284523:p.Arg293Cys	1					WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	p.R293C	NM_033131.3	NP_149122.1	1	2	3	2.185793	P56704	WNT3A_HUMAN		4	955	+		Prostate(94;0.0405)	Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	1	1	hg19	c.877C>T	CCDS1564.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.216473	0.95104	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76839	-1.05;-1.05	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.67725	0.932;0.953	D	0.90820	0.4708	10	0.45353	T	0.12	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	293;293	P56704;Q3SY79	WNT3A_HUMAN;.	C	293	ENSP00000284523:R293C;ENSP00000355715:R293C	ENSP00000284523:R293C	R	+	1	0	0	WNT3A	226313607	226313607	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.783000	0.62403	2.300000	0.77407	0.491000	0.48974	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_033131			20	20		58	55	1		1			0	0	17	0		9.999976e-01	0	0	0	0	0	0	20	58
ZBTB40	9923	broad.mit.edu	37	1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000375647.4	+	6	1555	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	450					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)			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)		AGCCACTTTGCCAAGCACCAC	0.488																																						ENST00000375647.4	1.000000	0.680000	9.800000e-01	8.000000e-01	0.900000	0.894833	0.900000	0.990000																										0				26						c.(1348-1350)Cca>Tca		zinc finger and BTB domain containing 40							58.0	65.0	62.0					1																	22832722		2203	4300	6503	SO:0001583	missense	9923	0	0					g.chr1:22832722C>T	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.1348C>T	chr1.hg19:g.22832722C>T	ENSP00000364798:p.Pro450Ser	1					ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	p.P450S	NM_014870.3	NP_055685.3	0	1	1	1.828421	Q9NUA8	ZBT40_HUMAN		6	1555	+		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)	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	1	1	hg19	c.1348C>T	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837604	0.32513	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.06	4.18	0.49190	6.06	4.18	0.49190	.	0.114274	0.39615	N	0.001303	T	0.60077	0.2241	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.32653	0.17;0.379	B;B	0.28139	0.082;0.086	T	0.54669	-0.8259	10	0.54805	T	0.06	-8.6573	8.3286	0.32173	0.0:0.7265:0.1308:0.1427	.	338;450	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	450;450;450;338	ENSP00000384527:P450S;ENSP00000364798:P450S;ENSP00000383098:P450S;ENSP00000363782:P338S	ENSP00000363782:P338S	P	+	1	0	0	ZBTB40	22705309	22705309	0.799000	0.28903	0.153000	0.22517	0.711000	0.40976	1.179000	0.31993	0.875000	0.35847	0.655000	0.94253	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-11.662190	1	0.170000	NM_014870			28	28		241	233	1		1	1		0	0	57	0		1	7.675133e-01	0	2	0	24	0	28	241
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602																																						ENST00000541182.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.989814	0.990000	1.000000																										0				10						c.(235-237)cGc>cAc		ADP-ribosylation factor 1							71.0	71.0	71.0					1																	228285130		2203	4300	6503	SO:0001583	missense	375	0	0					g.chr1:228285130G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.236G>A	chr1.hg19:g.228285130G>A	ENSP00000440005:p.Arg79His	1					ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	1	2	3	2.185793	P84077	ARF1_HUMAN		3	498	+		Prostate(94;0.0405)	P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	1	1	hg19	c.236G>A	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999806	0.54147	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66638	-0.22;-0.22;-0.22	5.39	3.49	0.39957	5.39	3.49	0.39957	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.70360	0.3215	M	0.89601	3.045	0.80722	D	1	B	0.29162	0.235	B	0.23716	0.048	T	0.75772	-0.3200	10	0.87932	D	0	-13.7481	12.3362	0.55069	0.1392:0.0:0.8608:0.0	.	79	P84077	ARF1_HUMAN	H	79	ENSP00000272102:R79H;ENSP00000442980:R79H;ENSP00000440005:R79H	ENSP00000272102:R79H	R	+	2	0	0	ARF1	226351753	226351753	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.575000	0.98187	1.521000	0.48983	-0.373000	0.07131	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-14.409570	1	0.170000	NM_001024227			49	48		493	488	1		1	1		0	0	73	0		1	1	0	356	0	2954	0	49	493
GJC2	57165	broad.mit.edu	37	1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	25					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647																																						ENST00000366714.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				7						c.(73-75)aaG>aaT		gap junction protein, gamma 2, 47kDa							54.0	34.0	41.0					1																	228345534		2199	4299	6498	SO:0001583	missense	57165	0	0					g.chr1:228345534G>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.75G>T	chr1.hg19:g.228345534G>T	ENSP00000355675:p.Lys25Asn	1						p.K25N	NM_020435.3	NP_065168.2	1	2	3	2.185793	Q5T442	CXG2_HUMAN		2	250	+		Prostate(94;0.0405)	O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	1	1	hg19	c.75G>T	CCDS1569.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217468	0.58560	.	.	ENSG00000198835	ENST00000366714	D	0.99388	-5.81	4.23	2.32	0.28847	4.23	2.32	0.28847	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99755	1.1019	10	0.87932	D	0	.	9.419	0.38539	0.1773:0.0:0.8227:0.0	.	25	Q5T442	CXG2_HUMAN	N	25	ENSP00000355675:K25N	ENSP00000355675:K25N	K	+	3	2	2	GJC2	226412157	226412157	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.502000	0.53332	0.422000	0.26005	0.491000	0.48974	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_020435			16	14		72	72	0		1	1		0	0	15	0		9.999544e-01	8.351073e-01	0	5	0	12	0	16	72
GJC2	57165	broad.mit.edu	37	1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	59					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642																																						ENST00000366714.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(175-177)cGg>cAg		gap junction protein, gamma 2, 47kDa							70.0	53.0	59.0					1																	228345635		2203	4300	6503	SO:0001583	missense	57165	0	0					g.chr1:228345635G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.176G>A	chr1.hg19:g.228345635G>A	ENSP00000355675:p.Arg59Gln	1						p.R59Q	NM_020435.3	NP_065168.2	1	2	3	2.185793	Q5T442	CXG2_HUMAN		2	351	+		Prostate(94;0.0405)	O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	1	1	hg19	c.176G>A	CCDS1569.1	1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781455	0.16120	.	.	ENSG00000198835	ENST00000366714	D	0.99014	-5.33	4.23	4.23	0.50019	4.23	4.23	0.50019	Connexin, conserved site (1);Connexin, N-terminal (2);	0.085302	0.40818	N	0.001014	D	0.93442	0.7908	N	0.02412	-0.56	0.32788	N	0.50156	D	0.53745	0.962	P	0.47626	0.552	D	0.93093	0.6501	10	0.02654	T	1	.	5.0104	0.14310	0.2671:0.0:0.7329:0.0	.	59	Q5T442	CXG2_HUMAN	Q	59	ENSP00000355675:R59Q	ENSP00000355675:R59Q	R	+	2	0	0	GJC2	226412258	226412258	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	6.008000	0.70739	2.204000	0.70986	0.491000	0.48974	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-4.255741	1	0.170000	NM_020435			40	39		130	130	0		1	1		0	0	30	0		1	9.987932e-01	0	16	0	21	0	40	130
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000422127.1	+	14	4233	c.4189C>A	c.(4189-4191)Cga>Aga	p.R1397R	OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.R1489R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746). {ECO:0000305}.|RM -> HV (in Ref. 1; CAC85749). {ECO:0000305}.	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)			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)				CTCGAAAGTTCGAATGGAGGC	0.672																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(4189-4191)Cga>Aga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							73.0	80.0	78.0					1																	228437821		2094	4201	6295	SO:0001819	synonymous_variant	84033	0	0					g.chr1:228437821C>A	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.4189C>A	chr1.hg19:g.228437821C>A		1					OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000570156.2_Silent_p.R1489R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.R1397R	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		14	4233	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.4189C>A	CCDS58065.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	126		126	123	1	2.060000	-20.000000	1	0.170000	NM_052843			195	193		512	502	1		1	1		0	0	126	0		1	6.938075e-01	0	4	0	4	0	195	512
OBSCN	84033	broad.mit.edu	37	1	228444434	228444434	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000422127.1	+	15	4436	c.4392C>T	c.(4390-4392)tgC>tgT	p.C1464C	OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.C1556C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1464	Ig-like 15.				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)			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)				CACTCAGCTGCGAGGTGGCTC	0.637																																						ENST00000422127.1	0.880000	0.320000	7.200000e-01	4.300000e-01	0.560000	0.582726	0.560000	0.540000																										0				223						c.(4390-4392)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45.0	45.0	45.0					1																	228444434		2042	4171	6213	SO:0001819	synonymous_variant	84033	26	120974	47				g.chr1:228444434C>T	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.4392C>T	chr1.hg19:g.228444434C>T		1					OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000570156.2_Silent_p.C1556C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.C1464C	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		15	4436	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.4392C>T	CCDS58065.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-4.318687	1	0.170000	NM_052843			14	14		309	303	0		1	0		0	0	57	0		9.997380e-01	2.251365e-03	0	0	0	2	0	14	309
OBSCN	84033	broad.mit.edu	37	1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000422127.1	+	17	4938	c.4894G>T	c.(4894-4896)Gca>Tca	p.A1632S	OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1816S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1632	Ig-like 17.				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)			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)				GGAGCAGCCAGCACACAGGGA	0.627																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(4894-4896)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38.0	39.0	39.0					1																	228456263		1990	4162	6152	SO:0001583	missense	84033	0	0					g.chr1:228456263G>T	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.4894G>T	chr1.hg19:g.228456263G>T	ENSP00000409493:p.Ala1632Ser	1					RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1816S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.A1632S	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		17	4938	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	1	1	hg19	c.4894G>T	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	6.074	0.381888	0.11524	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.60920	0.56;0.17;0.15	5.51	0.981	0.19756	5.51	0.981	0.19756	Immunoglobulin-like (1);	0.182299	0.34156	N	0.004201	T	0.50309	0.1608	L	0.61218	1.895	0.19300	N	0.99998	B;P;B	0.42123	0.392;0.771;0.42	B;P;B	0.44422	0.262;0.449;0.205	T	0.43261	-0.9402	10	0.10636	T	0.68	.	7.8376	0.29378	0.2147:0.0:0.6674:0.118	.	1632;78;1632	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	S	1632;1632;288	ENSP00000284548:A1632S;ENSP00000409493:A1632S;ENSP00000352613:A288S	ENSP00000284548:A1632S	A	+	1	0	0	OBSCN	226522886	226522886	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	1.211000	0.32382	0.305000	0.22832	0.491000	0.48974	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	59		59	37	1	2.060000	-20.000000	1	0.170000	NM_052843			79	48		224	149	1		1	0		0	0	59	0		1	1.712030e-01	0	1	0	2	0	79	224
ZBTB40	9923	broad.mit.edu	37	1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000375647.4	+	14	3179	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					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)			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)		AGTGCCCCGTCCATGCTGGAG	0.607																																						ENST00000375647.4	0.990000	0.610000	9.400000e-01	7.200000e-01	0.840000	0.837552	0.840000	0.870000																										0				26						c.(2971-2973)tCc>tTc		zinc finger and BTB domain containing 40							115.0	92.0	100.0					1																	22846692		2203	4300	6503	SO:0001583	missense	9923	0	0					g.chr1:22846692C>T	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.2972C>T	chr1.hg19:g.22846692C>T	ENSP00000364798:p.Ser991Phe	1					ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40-IT1_ENST00000438551.1_RNA	p.S991F	NM_014870.3	NP_055685.3	0	1	1	1.828421	Q9NUA8	ZBT40_HUMAN		14	3179	+		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)	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	1	1	hg19	c.2972C>T	CCDS224.1	0	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801189	0.70567	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07567	3.18;3.18;3.18	5.79	5.79	0.91817	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000062	T	0.31513	0.0799	M	0.74546	2.27	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.00712	-1.1598	10	0.72032	D	0.01	-20.6777	18.585	0.91185	0.0:1.0:0.0:0.0	.	879;991	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	991;991;879	ENSP00000384527:S991F;ENSP00000364798:S991F;ENSP00000363782:S879F	ENSP00000363782:S879F	S	+	2	0	0	ZBTB40	22719279	22719279	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.684000	0.68197	2.735000	0.93741	0.561000	0.74099	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_014870			35	34		388	382	0		1	0		0	0	87	0		1	4.259884e-01	0	1	0	16	0	35	388
OBSCN	84033	broad.mit.edu	37	1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000422127.1	+	20	5967	c.5923G>A	c.(5923-5925)Gcc>Acc	p.A1975T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2350T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1975	Ig-like 19.				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)			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)				GGCTGAGGGCGCCTCATCCTC	0.657																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				223						c.(5923-5925)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							24.0	29.0	28.0					1																	228462512		2125	4242	6367	SO:0001583	missense	84033	1	120830	22				g.chr1:228462512G>A	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.5923G>A	chr1.hg19:g.228462512G>A	ENSP00000409493:p.Ala1975Thr	1					OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2350T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000366709.4_5'UTR	p.A1975T	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		20	5967	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	1	1	hg19	c.5923G>A	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105255	0.20632	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.53	0.55603	5.49	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455816	0.21586	N	0.072167	T	0.54191	0.1843	L	0.37561	1.115	0.18873	N	0.999987	D;D	0.63880	0.958;0.993	B;B	0.44044	0.353;0.439	T	0.43556	-0.9384	10	0.14252	T	0.57	.	10.1739	0.42927	0.1597:0.0:0.8403:0.0	.	1975;1975	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1975;1975;822	ENSP00000284548:A1975T;ENSP00000409493:A1975T;ENSP00000352613:A822T	ENSP00000284548:A1975T	A	+	1	0	0	OBSCN	226529135	226529135	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.508000	0.22692	1.213000	0.43380	0.555000	0.69702	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_052843			20	20		67	66	1		1	0		0	0	15	0		9.999980e-01	5.136310e-01	0	0	0	7	0	20	67
OBSCN	84033	broad.mit.edu	37	1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000422127.1	+	31	8440	c.8396C>A	c.(8395-8397)gCt>gAt	p.A2799D	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3228D|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2799	Ig-like 27.				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)			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)				GTCCGGGAGGCTGCACCAAGT	0.657																																						ENST00000422127.1	1.000000	0.650000	1	8.700000e-01	0.990000	0.953179	0.990000	1.000000																										0				223						c.(8395-8397)gCt>gAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							34.0	40.0	38.0					1																	228469832		2016	4176	6192	SO:0001583	missense	84033	0	0					g.chr1:228469832C>A	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.8396C>A	chr1.hg19:g.228469832C>A	ENSP00000409493:p.Ala2799Asp	1					OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3228D|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000366709.4_5'UTR	p.A2799D	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		31	8440	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	1	1	hg19	c.8396C>A	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741893	0.30865	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.71103	-0.54;-0.54;-0.54	4.45	2.56	0.30785	4.45	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.192642	0.34676	N	0.003775	D	0.83339	0.5233	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.80764	0.993;0.885;0.994	T	0.82165	-0.0592	10	0.66056	D	0.02	.	7.9133	0.29803	0.0:0.645:0.0:0.355	.	2799;2799;2799	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	D	2799;2799;1646;498;205	ENSP00000284548:A2799D;ENSP00000409493:A2799D;ENSP00000352613:A1646D	ENSP00000284548:A2799D	A	+	2	0	0	OBSCN	226536455	226536455	0.951000	0.32395	0.003000	0.11579	0.004000	0.04260	1.801000	0.38843	0.428000	0.26173	0.462000	0.41574	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-19.775520	1	0.170000	NM_052843			14	14		146	143	0		1	1		0	0	31	0		9.997694e-01	3.707540e-01	0	2	0	12	0	14	146
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T	rs570299277		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2987	Ig-like 29.				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.C3270C(1)|p.C3041C(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)				CCTATACCTGCGACATTGGCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.0					ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.C3270C(1)|p.C3041C(1)	large_intestine(2)	223						c.(8959-8961)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							47.0	54.0	51.0					1																	228471427		2071	4203	6274	SO:0001819	synonymous_variant	84033	11	120996	40				g.chr1:228471427C>T	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.8961C>T	chr1.hg19:g.228471427C>T		1					OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000366709.4_Silent_p.C106C	p.C2987C	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		33	9005	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.8961C>T	CCDS58065.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_052843			81	81		303	298	1		1	1		0	0	68	0		1	4.562645e-01	0	3	0	4	0	81	303
OBSCN	84033	broad.mit.edu	37	1	228476588	228476588	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000422127.1	+	38	10382	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000570156.2_Splice_Site_p.K3875N|OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3446					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)			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)				TCACCGTGAAGGGTAATGACT	0.602																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999630	0.990000	1.000000																										0				223						c.(10336-10338)aaG>aaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							85.0	96.0	93.0					1																	228476588		2198	4282	6480	SO:0001630	splice_region_variant	84033	0	0					g.chr1:228476588G>T	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.10339+1G>T	chr1.hg19:g.228476588G>T		1					OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N|OBSCN_ENST00000570156.2_Splice_Site_p.K3875N|OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N	p.K3446N	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		38	10382	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	1	0	hg19	c.10338G>T	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285858	0.23478	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.12	3.03	0.35002	5.12	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205780	0.05700	N	0.593826	T	0.11324	0.0276	L	0.58354	1.805	0.19575	N	0.999969	D;B	0.55800	0.973;0.012	P;B	0.53401	0.725;0.009	T	0.27226	-1.0080	10	0.15952	T	0.53	.	1.1255	0.01734	0.2016:0.1401:0.4334:0.2249	.	3446;3446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	3446;3446;565;565;2293	ENSP00000284548:K3446N;ENSP00000409493:K3446N;ENSP00000355668:K565N;ENSP00000355670:K565N;ENSP00000352613:K2293N	ENSP00000284548:K3446N	K	+	3	2	2	OBSCN	226543211	226543211	0.001000	0.12720	0.850000	0.33497	0.115000	0.19883	-0.087000	0.11215	1.075000	0.40932	0.491000	0.48974	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.221955	1	0.170000	NM_052843	Missense_Mutation		35	35		258	249	1		1	1		0	0	55	0		1	4.185927e-02	0	3	0	0	0	35	258
OBSCN	84033	broad.mit.edu	37	1	228481232	228481232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000422127.1	+	41	11090	c.11046G>A	c.(11044-11046)caG>caA	p.Q3682Q	OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000570156.2_Silent_p.Q4111Q|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3682	Ig-like 37.				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)			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)				GTGAGCTGCAGATCCGCGGCC	0.637																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(11044-11046)caG>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							96.0	103.0	101.0					1																	228481232		2183	4272	6455	SO:0001819	synonymous_variant	84033	0	0					g.chr1:228481232G>A	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.11046G>A	chr1.hg19:g.228481232G>A		1					OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Silent_p.Q4111Q|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q	p.Q3682Q	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		41	11090	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.11046G>A	CCDS58065.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_052843			85	83		427	425	1		1	1		0	0	86	0		1	1.335158e-01	0	2	0	2	0	85	427
OBSCN	84033	broad.mit.edu	37	1	228494991	228494991	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228494991G>T	ENST00000422127.1	+	46	12269	c.12225G>T	c.(12223-12225)caG>caT	p.Q4075H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5032H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4075	Ig-like 42.				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)			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)				CCCGGCTTCAGAGTCTGGAGC	0.622																																						ENST00000422127.1	0.510000	0.150000	4.100000e-01	2.200000e-01	0.300000	0.319632	0.300000	0.300000																										0				223						c.(12223-12225)caG>caT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							57.0	67.0	64.0					1																	228494991		2083	4207	6290	SO:0001583	missense	84033	0	0					g.chr1:228494991G>T	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.12225G>T	chr1.hg19:g.228494991G>T	ENSP00000409493:p.Gln4075His	1					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5032H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H	p.Q4075H	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		46	12269	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	0	1	hg19	c.12225G>T	CCDS58065.1	0	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560875	0.27827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.81	2.56	0.30785	5.81	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157695	0.41194	D	0.000931	T	0.60379	0.2264	L	0.61036	1.89	0.31867	N	0.620166	B;B	0.18461	0.028;0.002	B;B	0.18263	0.021;0.005	T	0.62393	-0.6864	10	0.37606	T	0.19	.	10.4175	0.44331	0.1334:0.0:0.7494:0.1172	.	4075;4075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4075;4075;1709;1194	ENSP00000284548:Q4075H;ENSP00000409493:Q4075H;ENSP00000355668:Q1709H;ENSP00000355670:Q1194H	ENSP00000284548:Q4075H	Q	+	3	2	2	OBSCN	226561614	226561614	1.000000	0.71417	0.816000	0.32577	0.006000	0.05464	2.919000	0.48836	0.786000	0.33708	0.462000	0.41574	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-9.078154	1	0.170000	NM_052843			10	10		424	419	0		1	0		0	0	117	0		9.967701e-01	1.317637e-02	0	0	0	7	0	10	424
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228504445G>A	ENST00000422127.1	+	51	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 46.				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)			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)				TCTGAAAAACGCGGCGGTCCG	0.672																																						ENST00000422127.1	1.000000	0.250000	7.900000e-01	3.900000e-01	0.560000	0.594575	0.560000	1.000000																										0				223						c.(13321-13323)Gcg>Acg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	16.0	15.0					1																	228504445		1985	4141	6126	SO:0001583	missense	84033	0	0					g.chr1:228504445G>A	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.13321G>A	chr1.hg19:g.228504445G>A	ENSP00000409493:p.Ala4441Thr	1					OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T	p.A4441T	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		51	13365	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	0	1	hg19	c.13321G>A	CCDS58065.1	0	.	.	.	.	.	.	.	.	.	.	g	15.23	2.773100	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76060	-0.99;-0.99;0.14;0.65	5.14	1.06	0.20224	5.14	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.577390	0.03472	N	0.213753	T	0.56321	0.1977	N	0.16708	0.43	0.09310	N	1	B;B	0.21381	0.0;0.055	B;B	0.10450	0.0;0.005	T	0.36456	-0.9747	10	0.21014	T	0.42	.	4.1581	0.10270	0.2792:0.0:0.4727:0.2481	.	4441;4441	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4441;4441;2075;1560	ENSP00000284548:A4441T;ENSP00000409493:A4441T;ENSP00000355668:A2075T;ENSP00000355670:A1560T	ENSP00000284548:A4441T	A	+	1	0	0	OBSCN	226571068	226571068	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.003000	0.29809	0.183000	0.20059	-0.247000	0.11927	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-9.790253	1	0.170000	NM_052843			7	7		158	156	0		1	0		0	0	21	0		9.804787e-01	3.284624e-02	0	1	0	5	0	7	158
OBSCN	84033	broad.mit.edu	37	1	228511297	228511297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000422127.1	+	56	15686	c.15642C>T	c.(15640-15642)ctC>ctT	p.L5214L	OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000570156.2_Silent_p.L6171L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5214	Ig-like 49.				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)			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)				AGGCTGAGCTCCGTGTGGACT	0.587																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999920	0.990000	1.000000																										0				223						c.(15640-15642)ctC>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63.0	65.0	64.0					1																	228511297		2166	4269	6435	SO:0001819	synonymous_variant	84033	0	0					g.chr1:228511297C>T	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.15642C>T	chr1.hg19:g.228511297C>T		1					OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000366707.4_Silent_p.L2848L|OBSCN_ENST00000570156.2_Silent_p.L6171L|OBSCN_ENST00000366709.4_Silent_p.L2333L	p.L5214L	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		56	15686	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.15642C>T	CCDS58065.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_052843			16	16		74	70	1		1	1		0	0	21	0		9.999442e-01	7.724916e-01	0	3	0	12	0	16	74
OBSCN	84033	broad.mit.edu	37	1	228525846	228525846	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000422127.1	+	67	17045		c.e67+1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)			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)				GAGGCTCAAGGTATCTGAATG	0.682																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.e67+1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							17.0	18.0	18.0					1																	228525846		1947	4131	6078	SO:0001630	splice_region_variant	84033	0	0					g.chr1:228525846G>A	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.17001+1G>A	chr1.hg19:g.228525846G>A		1					OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site		NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		67	17045	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	1	1	hg19		CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710945	0.68730	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	4.15	4.15	0.48705	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	OBSCN	226592469	226592469	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.531000	0.98054	2.324000	0.78689	0.491000	0.48974	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_052843	Intron		33	33		98	98	1		1	0		0	0	18	0		1	0	0	1	0	0	0	33	98
OBSCN	84033	broad.mit.edu	37	1	228550349	228550349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228550349G>A	ENST00000422127.1	+	80	18778	c.18734G>A	c.(18733-18735)gGc>gAc	p.G6245D	OBSCN_ENST00000570156.2_Missense_Mutation_p.G7202D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6245					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)			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)				AAGGCGCCAGGCCCCTCCACA	0.677																																						ENST00000422127.1	0.740000	0.160000	5.600000e-01	2.600000e-01	0.390000	0.418707	0.390000	0.360000																										0				223						c.(18733-18735)gGc>gAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							30.0	33.0	32.0					1																	228550349		1896	4116	6012	SO:0001583	missense	84033	0	0					g.chr1:228550349G>A	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.18734G>A	chr1.hg19:g.228550349G>A	ENSP00000409493:p.Gly6245Asp	1					OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7202D	p.G6245D	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		80	18778	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	0	1	hg19	c.18734G>A	CCDS58065.1	0	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147125	0.37923	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.06	2.17	0.27698	4.06	2.17	0.27698	.	0.329473	0.31601	N	0.007373	T	0.40040	0.1101	L	0.27053	0.805	0.09310	N	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.15435	-1.0437	10	0.11794	T	0.64	.	5.6793	0.17765	0.3585:0.0:0.6415:0.0	.	6245	Q5VST9	OBSCN_HUMAN	D	6245;3879	ENSP00000409493:G6245D;ENSP00000355668:G3879D	ENSP00000355668:G3879D	G	+	2	0	0	OBSCN	226616972	226616972	0.003000	0.15002	0.009000	0.14445	0.030000	0.12068	0.752000	0.26362	0.494000	0.27859	0.491000	0.48974	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-8.198239	1	0.170000	NM_052843			6	6		202	200	0		1	0		0	0	30	0		9.645844e-01	0	0	0	0	1	0	6	202
OBSCN	84033	broad.mit.edu	37	1	228553839	228553839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000422127.1	+	83	19172	c.19128C>T	c.(19126-19128)ttC>ttT	p.F6376F	OBSCN_ENST00000570156.2_Silent_p.F7333F|OBSCN_ENST00000366707.4_Silent_p.F4010F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6376	Ig-like 54.				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)			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)				CGGCCCAATTCGAGGCTATCA	0.632																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(19126-19128)ttC>ttT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							78.0	84.0	82.0					1																	228553839		2083	4206	6289	SO:0001819	synonymous_variant	84033	16	121050	43				g.chr1:228553839C>T	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.19128C>T	chr1.hg19:g.228553839C>T		1					OBSCN_ENST00000366707.4_Silent_p.F4010F|OBSCN_ENST00000570156.2_Silent_p.F7333F	p.F6376F	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		83	19172	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.19128C>T	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280365	0.23392	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.847	0.18961	5.41	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.617	0.39698	0.0:0.4472:0.0:0.5528	.	.	.	.	X	993	.	.	R	+	1	2	2	OBSCN	226620462	226620462	0.003000	0.15002	0.976000	0.42696	0.151000	0.21798	-0.314000	0.08092	0.112000	0.17975	0.313000	0.20887	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.039482	1	0.170000	NM_052843			69	69		344	339	1		1	1		0	0	65	0		1	4.009160e-01	0	3	0	5	0	69	344
OBSCN	84033	broad.mit.edu	37	1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000422127.1	+	94	20917	c.20873C>A	c.(20872-20874)cCt>cAt	p.P6958H	OBSCN_ENST00000570156.2_Missense_Mutation_p.P7915H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6958					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)			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)				CACTTGGCCCCTGGCCACAGC	0.711																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999360	0.990000	1.000000																										0				223						c.(20872-20874)cCt>cAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							9.0	14.0	12.0					1																	228559352		1930	3987	5917	SO:0001583	missense	84033	0	0					g.chr1:228559352C>A	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.20873C>A	chr1.hg19:g.228559352C>A	ENSP00000409493:p.Pro6958His	1					OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H|OBSCN_ENST00000570156.2_Missense_Mutation_p.P7915H	p.P6958H	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		94	20917	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	1	1	hg19	c.20873C>A	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577488	0.45902	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63096	-0.02;0.03	3.97	3.03	0.35002	3.97	3.03	0.35002	.	.	.	.	.	T	0.49881	0.1583	L	0.27053	0.805	0.23221	N	0.998097	B	0.17465	0.022	B	0.14023	0.01	T	0.47459	-0.9116	9	0.62326	D	0.03	.	12.4621	0.55736	0.0:0.8299:0.1701:0.0	.	6958	Q5VST9	OBSCN_HUMAN	H	6958;4592	ENSP00000409493:P6958H;ENSP00000355668:P4592H	ENSP00000355668:P4592H	P	+	2	0	0	OBSCN	226625975	226625975	0.019000	0.18553	0.003000	0.11579	0.096000	0.18686	1.722000	0.38042	0.854000	0.35336	0.484000	0.47621	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_052843			21	19		137	136	0		1	0		0	0	25	0		9.999982e-01	1.446394e-01	0	0	0	5	0	21	137
OBSCN	84033	broad.mit.edu	37	1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000422127.1	+	94	20994	c.20950C>T	c.(20950-20952)Cga>Tga	p.R6984*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R7941*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6984	Pro-rich.				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)			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)				TGAGGCACAGCGACTGCCTTC	0.697																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(20950-20952)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15.0	19.0	18.0					1																	228559429		1923	4075	5998	SO:0001587	stop_gained	84033	1	119926	29				g.chr1:228559429C>T	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.20950C>T	chr1.hg19:g.228559429C>T	ENSP00000409493:p.Arg6984*	1					OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R7941*	p.R6984*	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		94	20994	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	0	1	hg19	c.20950C>T	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.473702|83.473702	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	4.69|4.69	-8.05|-8.05	0.01106|0.01106	4.69|4.69	-8.05|-8.05	0.01106|0.01106	.|.	.|.	.|.	.|.	.|.	T|.	0.15652|.	0.0377|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	4|.	.|0.13470	.|T	.|0.59	.|.	7.8603|7.8603	0.29506|0.29506	0.0:0.3:0.4273:0.2728|0.0:0.3:0.4273:0.2728	.|.	.|.	.|.	.|.	V|X	1600|6984;4618	.|.	.|ENSP00000355668:R4618X	A|R	+|+	2|1	0|2	0|2	OBSCN|OBSCN	226626052|226626052	226626052|226626052	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.111000|0.111000	0.15458|0.15458	-1.059000|-1.059000	0.03193|0.03193	-1.102000|-1.102000	0.02115|0.02115	GCG|CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_052843			41	40		208	205	0		1	1		0	0	47	0		1	3.301896e-01	0	3	0	4	0	41	208
OBSCN	84033	broad.mit.edu	37	1	228559432	228559432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000422127.1	+	94	20997	c.20953C>T	c.(20953-20955)Ctg>Ttg	p.L6985L	OBSCN_ENST00000570156.2_Silent_p.L7942L|OBSCN_ENST00000366707.4_Silent_p.L4619L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6985	Pro-rich.				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)			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)				GGCACAGCGACTGCCTTCAGC	0.692																																						ENST00000422127.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				223						c.(20953-20955)Ctg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16.0	19.0	18.0					1																	228559432		1906	4066	5972	SO:0001819	synonymous_variant	84033	0	0					g.chr1:228559432C>T	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.20953C>T	chr1.hg19:g.228559432C>T		1					OBSCN_ENST00000366707.4_Silent_p.L4619L|OBSCN_ENST00000570156.2_Silent_p.L7942L	p.L6985L	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		94	20997	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.20953C>T	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381544	0.24944	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.69	-0.906	0.10524	4.69	-0.906	0.10524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.1631	0.01810	0.2763:0.291:0.2699:0.1629	.	.	.	.	I	1601	.	.	T	+	2	0	0	OBSCN	226626055	226626055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.330000	0.08514	-0.320000	0.08662	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_052843			45	43		203	200	0		1	1		0	0	48	0		1	2.313525e-01	0	2	0	3	0	45	203
OBSCN	84033	broad.mit.edu	37	1	228565678	228565678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000422127.1	+	103	23594	c.23550C>A	c.(23548-23550)atC>atA	p.I7850I	OBSCN_ENST00000570156.2_Silent_p.I8805I|OBSCN_ENST00000366707.4_Silent_p.I5484I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7850	Protein kinase 2. {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)			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)				AGACAGACATCTGGGCCATCG	0.647																																						ENST00000422127.1	1.000000	0.690000	1	8.700000e-01	0.990000	0.956843	0.990000	1.000000																										0				223						c.(23548-23550)atC>atA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							75.0	81.0	79.0					1																	228565678		2048	4204	6252	SO:0001819	synonymous_variant	84033	0	0					g.chr1:228565678C>A	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.23550C>A	chr1.hg19:g.228565678C>A		1					OBSCN_ENST00000366707.4_Silent_p.I5484I|OBSCN_ENST00000570156.2_Silent_p.I8805I	p.I7850I	NM_001098623.2	NP_001092093.2	1	2	3	2.185793	Q5VST9	OBSCN_HUMAN		103	23594	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.23550C>A	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356963	0.41801	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.17	3.11	0.35812	5.17	3.11	0.35812	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55010	-0.8207	4	.	.	.	.	9.1082	0.36712	0.0:0.7162:0.1335:0.1503	.	.	.	.	M	2465	.	.	L	+	1	2	2	OBSCN	226632301	226632301	0.916000	0.31088	0.999000	0.59377	0.670000	0.39368	0.070000	0.14573	1.143000	0.42306	0.313000	0.20887	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.999990	1	0.170000	NM_052843			19	19		203	200	0		1	1		0	0	57	0		9.999916e-01	6.306227e-01	0	3	0	21	0	19	203
TRIM17	51127	broad.mit.edu	37	1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TRIM11_ENST00000493030.2_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|TRIM11_ENST00000284551.6_5'Flank|TRIM11_ENST00000366699.3_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	451	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592																																						ENST00000366697.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1351-1353)Ccc>Tcc		tripartite motif containing 17							68.0	75.0	73.0					1																	228595985		2203	4300	6503	SO:0001583	missense	51127	0	0					g.chr1:228595985G>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1351C>T	chr1.hg19:g.228595985G>A	ENSP00000355658:p.Pro451Ser	1					TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000284551.6_5'Flank	p.P451S			1	2	3	2.185793	Q9Y577	TRI17_HUMAN		6	2307	-		Prostate(94;0.0724)	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	1	1	hg19	c.1351C>T	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689834	0.48097	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	4.92	0.64577	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43260	D	0.000592	T	0.73837	0.3638	M	0.67700	2.07	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.76138	-0.3069	10	0.59425	D	0.04	.	16.4366	0.83877	0.0:0.0:1.0:0.0	.	451	Q9Y577	TRI17_HUMAN	S	451	ENSP00000355658:P451S;ENSP00000355659:P451S;ENSP00000295033:P451S	ENSP00000295033:P451S	P	-	1	0	0	TRIM17	226662608	226662608	0.182000	0.23173	0.992000	0.48379	0.495000	0.33615	2.066000	0.41452	2.642000	0.89623	0.655000	0.94253	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_016102			146	144		390	387	1		1	1		0	0	90	0		1	9.929278e-01	0	21	0	2	0	146	390
HIST3H2BB	128312	broad.mit.edu	37	1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	86					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647																																						ENST00000369160.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(256-258)aaG>aaT		histone cluster 3, H2bb							91.0	83.0	86.0					1																	228646088		2203	4300	6503	SO:0001583	missense	128312	0	0					g.chr1:228646088G>T	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.258G>T	chr1.hg19:g.228646088G>T	ENSP00000375736:p.Lys86Asn	1					HIST3H2A_ENST00000366695.2_5'Flank	p.K86N	NM_175055.2	NP_778225.1	1	2	3	2.185793	Q8N257	H2B3B_HUMAN		1	281	+		Prostate(94;0.183)	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	1	1	hg19	c.258G>T	CCDS1574.1	1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510202	0.85282	.	.	ENSG00000196890	ENST00000369160	T	0.75050	-0.9	3.94	3.03	0.35002	3.94	3.03	0.35002	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000008	D	0.82788	0.5113	M	0.85542	2.76	0.54753	D	0.999986	P	0.52692	0.955	P	0.56278	0.795	D	0.84800	0.0784	10	0.87932	D	0	.	10.1856	0.42995	0.1001:0.0:0.8999:0.0	.	86	Q8N257	H2B3B_HUMAN	N	86	ENSP00000375736:K86N	ENSP00000375736:K86N	K	+	3	2	2	HIST3H2BB	226712711	226712711	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.186000	0.58337	1.250000	0.43966	-0.225000	0.12378	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	1	0	0		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000	NM_175055			116	113		558	551	1		1	0		0	0	118	0		1	3.016703e-02	0	1	0	1	0	116	558
MORN1	79906	broad.mit.edu	37	1	2290153	2290153	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.747C>T	c.(745-747)agC>agT	p.S249S	MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	249										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCCGCTCTCGCCTTCCAGGA	0.597																																						ENST00000378531.3	0.990000	0.420000	9.300000e-01	5.900000e-01	0.780000	0.766720	0.780000	0.900000																										0				9						c.(745-747)agC>agT		MORN repeat containing 1							46.0	44.0	45.0					1																	2290153		2202	4300	6502	SO:0001630	splice_region_variant	79906	0	0					g.chr1:2290153G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.746-1C>T	chr1.hg19:g.2290153G>A		1					MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	p.S249S	NM_024848.1	NP_079124.1	0	1	1	1.838767	Q5T089	MORN1_HUMAN		9	920	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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)	A6NKZ6|Q8WW30|Q9H852	Splice_Site	SNP	ENST00000378531.3	0	1	hg19	c.747C>T	CCDS40.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-5.984462	1	0.170000	NM_024848	Silent		8	8		80	79	0		1	1		0	0	18	0		9.900309e-01	1.193627e-01	0	3	0	3	0	8	80
EPHA8	2046	broad.mit.edu	37	1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	179	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		R -> C (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			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)		CTCAGCAAGCGCGGCTTCTAC	0.612																																						ENST00000166244.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.979598	0.980000	0.990000																										0				61						c.(535-537)cGc>cAc		EPH receptor A8							81.0	72.0	75.0					1																	22903086		2203	4300	6503	SO:0001583	missense	2046	1	121412	29				g.chr1:22903086G>A	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.536G>A	chr1.hg19:g.22903086G>A	ENSP00000166244:p.Arg179His	1					EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H	p.R179H	NM_020526.3	NP_065387.1	0	1	1	1.828421	P29322	EPHA8_HUMAN		3	608	+		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)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	1	1	hg19	c.536G>A	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555036	0.65425	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10382	2.88;2.88;2.88	3.93	3.93	0.45458	3.93	3.93	0.45458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.27063	0.0663	M	0.66439	2.03	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.00847	-1.1542	10	0.59425	D	0.04	.	8.6547	0.34055	0.1084:0.0:0.8916:0.0	.	179;179	P29322;P29322-2	EPHA8_HUMAN;.	H	179	ENSP00000166244:R179H;ENSP00000363775:R179H;ENSP00000440274:R179H	ENSP00000166244:R179H	R	+	2	0	0	EPHA8	22775673	22775673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.435000	0.52849	2.008000	0.58898	0.442000	0.29010	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_020526			66	65		272	268	1		1			0	0	69	0		1	0	0	0	0	0	0	66	272
EPHA8	2046	broad.mit.edu	37	1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A|EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	219	Cys-rich.				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)			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)		GGAGGCAGTGACGGGGGCCGA	0.637																																						ENST00000166244.3	0.990000	0.580000	9.600000e-01	7.100000e-01	0.850000	0.841006	0.850000	0.940000																										0				61						c.(655-657)Acg>Gcg		EPH receptor A8							50.0	47.0	48.0					1																	22903205		2203	4300	6503	SO:0001583	missense	2046	0	0					g.chr1:22903205A>G	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.655A>G	chr1.hg19:g.22903205A>G	ENSP00000166244:p.Thr219Ala	1					EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A	p.T219A	NM_020526.3	NP_065387.1	0	1	1	1.828421	P29322	EPHA8_HUMAN		3	727	+		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)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	1	1	hg19	c.655A>G	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940226	0.52972	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.07;5.07	4.0	4.0	0.46444	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.33753	1.03	0.49582	D	0.999805	D;P	0.69078	0.997;0.926	D;P	0.75020	0.985;0.839	T	0.71371	-0.4613	10	0.19147	T	0.46	.	11.8592	0.52457	1.0:0.0:0.0:0.0	.	219;219	P29322;P29322-2	EPHA8_HUMAN;.	A	219	ENSP00000166244:T219A;ENSP00000363775:T219A;ENSP00000440274:T219A	ENSP00000166244:T219A	T	+	1	0	0	EPHA8	22775792	22775792	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.957000	0.63652	1.662000	0.50781	0.363000	0.22086	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000	NM_020526			21	21		211	209	0		1			0	0	51	0		9.999980e-01	0	0	0	0	0	0	21	211
EPHA8	2046	broad.mit.edu	37	1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N|EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	297	Cys-rich.				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)			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)		CCTCCCCACAGCCACTCCGCA	0.672																																						ENST00000166244.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.988576	0.980000	0.990000																										0				61						c.(889-891)aGc>aAc		EPH receptor A8							41.0	40.0	40.0					1																	22913039		2202	4300	6502	SO:0001583	missense	2046	0	0					g.chr1:22913039G>A	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.890G>A	chr1.hg19:g.22913039G>A	ENSP00000166244:p.Ser297Asn	1					EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N	p.S297N	NM_020526.3	NP_065387.1	0	1	1	1.828421	P29322	EPHA8_HUMAN		4	962	+		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)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	1	1	hg19	c.890G>A	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939549	0.92526	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97430	1.59;-4.38;-4.38	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.053256	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92268	3.29	0.52501	D	0.999958	P;D	0.55800	0.671;0.973	B;P	0.56612	0.107;0.802	D	0.99544	1.0964	10	0.87932	D	0	.	15.6037	0.76646	0.0:0.0:1.0:0.0	.	297;297	P29322;P29322-2	EPHA8_HUMAN;.	N	297	ENSP00000166244:S297N;ENSP00000363775:S297N;ENSP00000440274:S297N	ENSP00000166244:S297N	S	+	2	0	0	EPHA8	22785626	22785626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.587000	0.98229	2.265000	0.75225	0.455000	0.32223	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_020526			89	85		247	242	0		1			0	0	68	0		1	0	0	0	0	0	0	89	247
EPHA8	2046	broad.mit.edu	37	1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CCTGAGCGAGGCGTCCATCAT	0.662																																						ENST00000166244.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.989900	0.980000	0.990000																										0				61						c.(2053-2055)Gcg>Acg		EPH receptor A8							88.0	90.0	89.0					1																	22924291		2203	4300	6503	SO:0001583	missense	2046	0	0					g.chr1:22924291G>A	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.2053G>A	chr1.hg19:g.22924291G>A	ENSP00000166244:p.Ala685Thr	1						p.A685T	NM_020526.3	NP_065387.1	0	1	1	1.828421	P29322	EPHA8_HUMAN		11	2125	+		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)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	1	1	hg19	c.2053G>A	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916304	0.92249	.	.	ENSG00000070886	ENST00000166244	T	0.63913	-0.07	4.56	4.56	0.56223	4.56	4.56	0.56223	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	T	0.81064	0.4745	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84792	0.0779	10	0.87932	D	0	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	685	P29322	EPHA8_HUMAN	T	685	ENSP00000166244:A685T	ENSP00000166244:A685T	A	+	1	0	0	EPHA8	22796878	22796878	1.000000	0.71417	0.989000	0.46669	0.675000	0.39556	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_020526			117	116		458	449	1		1			0	0	104	0		1	0	0	0	0	0	0	117	458
EPHA8	2046	broad.mit.edu	37	1	22927925	22927925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)			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)		TCGCTGCGGGCGGATACTCCT	0.706																																						ENST00000166244.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.986860	0.980000	0.990000																										0				61						c.(2860-2862)ggC>ggT		EPH receptor A8							39.0	44.0	42.0					1																	22927925		2203	4297	6500	SO:0001819	synonymous_variant	2046	1	121318	30				g.chr1:22927925C>T	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.2862C>T	chr1.hg19:g.22927925C>T		1						p.G954G	NM_020526.3	NP_065387.1	0	1	1	1.828421	P29322	EPHA8_HUMAN		16	2934	+		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)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	1	1	hg19	c.2862C>T	CCDS225.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-4.104190	1	0.170000	NM_020526			89	88		318	314	1		1			0	0	67	0		1	0	0	0	0	0	0	89	318
HIST3H2BB	128312	broad.mit.edu	37	1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	113					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637																																						ENST00000369160.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(337-339)Tcc>Ccc		histone cluster 3, H2bb							56.0	56.0	56.0					1																	228646167		2203	4298	6501	SO:0001583	missense	128312	0	0					g.chr1:228646167T>C	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.337T>C	chr1.hg19:g.228646167T>C	ENSP00000375736:p.Ser113Pro	1					HIST3H2A_ENST00000366695.2_5'Flank	p.S113P	NM_175055.2	NP_778225.1	1	2	3	2.185793	Q8N257	H2B3B_HUMAN		1	360	+		Prostate(94;0.183)	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	1	1	hg19	c.337T>C	CCDS1574.1	1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.639928	0.67244	.	.	ENSG00000196890	ENST00000369160	T	0.46063	0.88	3.72	3.72	0.42706	3.72	3.72	0.42706	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.84511	2.7	0.58432	D	0.999996	B	0.24576	0.106	B	0.21546	0.035	T	0.55698	-0.8100	10	0.66056	D	0.02	.	11.0805	0.48057	0.0:0.0:0.0:1.0	.	113	Q8N257	H2B3B_HUMAN	P	113	ENSP00000375736:S113P	ENSP00000375736:S113P	S	+	1	0	0	HIST3H2BB	226712790	226712790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.617000	0.67716	1.926000	0.55796	0.477000	0.44152	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	0	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_175055			118	114		357	351	1		1	0		0	0	85	0		1	1.562479e-01	0	0	0	3	0	118	357
RAB4A	5867	broad.mit.edu	37	1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	115					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAATGCTAGCGAGCCAGAAC	0.388																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4	0.910000	0.480000	8.000000e-01	5.700000e-01	0.670000	0.689418	0.670000	0.670000																										0				11						c.(343-345)gCg>gTg		RAB4A, member RAS oncogene family							128.0	121.0	124.0					1																	229433282		2203	4300	6503	SO:0001583	missense	5867	1	121412	33				g.chr1:229433282C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.344C>T	chr1.hg19:g.229433282C>T	ENSP00000355651:p.Ala115Val	1					RAB4A_ENST00000473894.1_3'UTR	p.A115V	NM_004578.2	NP_004569.2	1	2	3	2.185793	P20338	RAB4A_HUMAN		5	552	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	1	1	hg19	c.344C>T	CCDS31050.1	0	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295386	0.81025	.	.	ENSG00000168118	ENST00000366690	T	0.77358	-1.09	5.48	4.57	0.56435	5.48	4.57	0.56435	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57130	1.785	0.80722	D	1	P	0.45176	0.852	B	0.41946	0.371	T	0.78750	-0.2082	10	0.72032	D	0.01	.	14.3666	0.66810	0.0:0.9287:0.0:0.0713	.	110	P20338	RAB4A_HUMAN	V	115	ENSP00000355651:A115V	ENSP00000355651:A115V	A	+	2	0	0	RAB4A	227499905	227499905	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	7.818000	0.86416	1.294000	0.44707	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-5.926144	1	0.170000	NM_004578			35	34		626	619	0		1	1		0	0	110	0		1	9.999990e-01	0	9	0	366	0	35	626
ACTA1	58	broad.mit.edu	37	1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	222					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)			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)				GAAGTCCAGGGCCACGTAGCA	0.657																																						ENST00000366684.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(664-666)gCc>gTc		actin, alpha 1, skeletal muscle							43.0	36.0	38.0					1																	229567884		2203	4299	6502	SO:0001583	missense	58	0	0					g.chr1:229567884G>A	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.665C>T	chr1.hg19:g.229567884G>A	ENSP00000355645:p.Ala222Val	1					ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	p.A222V	NM_001100.3	NP_001091.1	1	2	3	2.185793	P68133	ACTS_HUMAN		5	767	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	1	1	hg19	c.665C>T	CCDS1578.1	1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753071	0.69648	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94613	-3.47;-3.47	4.28	4.28	0.50868	4.28	4.28	0.50868	.	0.065554	0.64402	D	0.000018	D	0.97629	0.9223	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98786	1.0734	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	222	P68133	ACTS_HUMAN	V	222;132;134;187	ENSP00000355645:A222V;ENSP00000355644:A134V	ENSP00000312351:A132V	A	-	2	0	0	ACTA1	227634507	227634507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001100			40	40		191	188	0		1	0		0	0	37	0		1	0	0	0	0	1	0	40	191
C1QA	712	broad.mit.edu	37	1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	32	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	ACCAGACGGGAAGAAAGGGGA	0.662																																						ENST00000374642.3	1.000000	0.660000	9.800000e-01	8.000000e-01	0.910000	0.898523	0.910000	0.990000																										0				6						c.(94-96)Aag>Tag		complement component 1, q subcomponent, A chain	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)						37.0	34.0	35.0					1																	22964203		2203	4300	6503	SO:0001587	stop_gained	712	0	0					g.chr1:22964203A>T	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.94A>T	chr1.hg19:g.22964203A>T	ENSP00000363773:p.Lys32*	1					C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	p.K32*	NM_015991.2	NP_057075.1	0	1	1	1.828421	P02745	C1QA_HUMAN		2	298	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	B2R4X2|Q5T963	Nonsense_Mutation	SNP	ENST00000374642.3	0	1	hg19	c.94A>T	CCDS226.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.396592|3.396592	0.62177|0.62177	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|.	.|.	.|.	4.88|4.88	0.85|0.85	0.18980|0.18980	4.88|4.88	0.85|0.85	0.18980|0.18980	.|.	2.869200|.	0.01757|.	N|.	0.030313|.	T|.	0.56587|.	0.1995|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66464|.	-0.5917|.	5|.	0.66056|0.51188	D|T	0.02|0.08	2.406|2.406	10.9783|10.9783	0.47480|0.47480	0.5354:0.4646:0.0:0.0|0.5354:0.4646:0.0:0.0	.|.	.|.	.|.	.|.	V|X	30|32	.|.	ENSP00000341271:E30V|ENSP00000363773:K32X	E|K	+|+	2|1	0|0	0|0	C1QA|C1QA	22836790|22836790	22836790|22836790	0.836000|0.836000	0.29430|0.29430	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	2.501000|2.501000	0.45389|0.45389	0.311000|0.311000	0.23014|0.23014	-0.488000|-0.488000	0.04728|0.04728	GAA|AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_015991			15	14		85	81	1		1	0		0	0	19	0		9.998750e-01	1	0	0	0	1842	0	15	85
ACTA1	58	broad.mit.edu	37	1	229568761	229568761	+	Silent	SNP	C	C	T	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	34					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)			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)				CCACGATGGACGGGAACACGG	0.721																																						ENST00000366684.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(100-102)ccG>ccA		actin, alpha 1, skeletal muscle		C		0,4404		0,0,2202	28.0	31.0	30.0		102	-9.4	0.1	1	dbSNP_134	30	1,8595		0,1,4297	no	coding-synonymous	ACTA1	NM_001100.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		34/378	229568761	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	58	2	121388	32				g.chr1:229568761C>T	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.102G>A	chr1.hg19:g.229568761C>T		1					ACTA1_ENST00000366683.2_Silent_p.P34P	p.P34P	NM_001100.3	NP_001091.1	1	2	3	2.185793	P68133	ACTS_HUMAN		2	204	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	1	1	hg19	c.102G>A	CCDS1578.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_001100			103	103		284	283	0		1			0	0	46	0		1	0	0	0	0	0	0	103	284
ABCB10	23456	broad.mit.edu	37	1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	622	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438). {ECO:0000305}.	transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGTTGAACCCTTGGGGGAAA	0.478																																						ENST00000344517.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				31						c.(1864-1866)Ggg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 10							128.0	138.0	135.0					1																	229661725		2203	4300	6503	SO:0001583	missense	23456	0	0					g.chr1:229661725C>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1864G>T	chr1.hg19:g.229661725C>A	ENSP00000355637:p.Gly622Trp	1						p.G622W	NM_012089.2	NP_036221.2	1	2	3	2.185793	Q9NRK6	ABCBA_HUMAN		10	1906	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	1	1	hg19	c.1864G>T	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484617	0.84854	.	.	ENSG00000135776	ENST00000344517	D	0.85955	-2.05	5.03	5.03	0.67393	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.8303	18.7182	0.91684	0.0:1.0:0.0:0.0	.	622	Q9NRK6	ABCBA_HUMAN	W	622	ENSP00000355637:G622W	ENSP00000355637:G622W	G	-	1	0	0	ABCB10	227728348	227728348	1.000000	0.71417	0.348000	0.25681	0.799000	0.45148	7.814000	0.86154	2.475000	0.83589	0.591000	0.81541	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	1	0	1		2	2	2	0		0	0	219		219	218	1	2.060000	-2.879461	1	0.170000	NM_012089			110	108		990	957	1		1	1		0	0	219	0		1	9.996629e-01	0	9	0	94	0	110	990
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493																																						ENST00000344517.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1210-1212)Ctc>Atc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							60.0	60.0	60.0					1																	229675332		2203	4300	6503	SO:0001583	missense	23456	0	0					g.chr1:229675332G>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1210C>A	chr1.hg19:g.229675332G>T	ENSP00000355637:p.Leu404Ile	1						p.L404I	NM_012089.2	NP_036221.2	1	2	3	2.185793	Q9NRK6	ABCBA_HUMAN		6	1252	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	1	1	hg19	c.1210C>A	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211720	0.79240	.	.	ENSG00000135776	ENST00000344517	D	0.90900	-2.75	5.25	5.25	0.73442	5.25	5.25	0.73442	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	0.89532	0.6742	L	0.45698	1.435	0.80722	D	1	B	0.09022	0.002	B	0.31290	0.127	D	0.84821	0.0796	10	0.32370	T	0.25	-23.9756	19.2149	0.93772	0.0:0.0:1.0:0.0	.	404	Q9NRK6	ABCBA_HUMAN	I	404	ENSP00000355637:L404I	ENSP00000355637:L404I	L	-	1	0	0	ABCB10	227741955	227741955	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	6.055000	0.71103	2.619000	0.88677	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_012089			61	61		342	335	1		1	1		0	0	68	0		1	9.999654e-01	0	15	0	71	0	61	342
C1QC	714	broad.mit.edu	37	1	22974234	22974234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22974234C>T	ENST00000374639.3	+	3	814	c.696C>T	c.(694-696)ggC>ggT	p.G232G	C1QC_ENST00000374637.1_Silent_p.G232G|C1QC_ENST00000374640.4_Silent_p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	232	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GCATCCAGGGCTCTGACAGCG	0.637																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3	0.370000	0.090000	2.900000e-01	1.400000e-01	0.200000	0.219178	0.200000	0.200000																										0				15						c.(694-696)ggC>ggT		complement component 1, q subcomponent, C chain	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)						96.0	95.0	95.0					1																	22974234		2203	4300	6503	SO:0001819	synonymous_variant	714	0	0					g.chr1:22974234C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.696C>T	chr1.hg19:g.22974234C>T		1					C1QC_ENST00000374637.1_Silent_p.G232G|C1QC_ENST00000374640.4_Silent_p.G232G	p.G232G	NM_001114101.1	NP_001107573.1	0	1	1	1.828421	P02747	C1QC_HUMAN		3	814	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	0	1	hg19	c.696C>T	CCDS227.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	0	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-7.342367	1	0.170000	NM_172369			8	8		422	412	0		1	1		0	0	102	0		9.884558e-01	1	0	2	0	4414	0	8	422
TAF5L	27097	broad.mit.edu	37	1	229738419	229738419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366676.1	-	3	494	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000366675.3_Silent_p.V165V|TAF5L_ENST00000258281.2_Silent_p.V165V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	165					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463																																						ENST00000366676.1	1.000000	0.800000	1	9.100000e-01	0.990000	0.971067	0.990000	1.000000																										0				11						c.(493-495)gtC>gtT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							200.0	190.0	193.0					1																	229738419		2203	4300	6503	SO:0001819	synonymous_variant	27097	0	0					g.chr1:229738419G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.495C>T	chr1.hg19:g.229738419G>A		1					TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366675.3_Silent_p.V165V	p.V165V			1	2	3	2.185793	O75529	TAF5L_HUMAN		3	494	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	1	1	hg19	c.495C>T	CCDS1581.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-13.439200	1	0.170000	NM_014409			53	52		591	578	1		1	1		0	0	116	0		1	9.967137e-01	0	11	0	86	0	53	591
URB2	9816	broad.mit.edu	37	1	229773865	229773865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229773865G>A	ENST00000258243.2	+	4	3641	c.3505G>A	c.(3505-3507)Gcg>Acg	p.A1169T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1169						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				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						GCCAGCTCTCGCGGGACATGA	0.522																																						ENST00000258243.2	0.650000	0.240000	5.400000e-01	3.200000e-01	0.420000	0.435203	0.420000	0.420000																										0				73						c.(3505-3507)Gcg>Acg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							138.0	141.0	140.0					1																	229773865		2203	4300	6503	SO:0001583	missense	9816	4	121412	39				g.chr1:229773865G>A	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.3505G>A	chr1.hg19:g.229773865G>A	ENSP00000258243:p.Ala1169Thr	1						p.A1169T	NM_014777.2	NP_055592.2	1	2	3	2.185793	Q14146	URB2_HUMAN		4	3641	+			Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	1	1	hg19	c.3505G>A	CCDS31052.1	0	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580204	0.28180	.	.	ENSG00000135763	ENST00000258243	T	0.31510	1.49	5.65	1.83	0.25207	5.65	1.83	0.25207	.	0.663319	0.15700	N	0.248971	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.24119	-1.0169	9	.	.	.	-1.6535	6.2627	0.20910	0.2396:0.0:0.6339:0.1265	.	1169	Q14146	URB2_HUMAN	T	1169	ENSP00000258243:A1169T	.	A	+	1	0	0	URB2	227840488	227840488	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.662000	0.37418	0.149000	0.19098	0.585000	0.79938	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.264037	1	0.170000	NM_014777			15	15		449	445	0		1	1		0	0	72	0		9.998672e-01	4.843093e-01	0	2	0	46	0	15	449
URB2	9816	broad.mit.edu	37	1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1459						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				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						GGAGGTACAGAAGGTAAAATT	0.478																																						ENST00000258243.2	0.520000	0.150000	4.200000e-01	2.200000e-01	0.310000	0.327077	0.310000	0.300000																										0				73						c.(4375-4377)Aag>Gag		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							233.0	198.0	210.0					1																	229790133		2203	4300	6503	SO:0001583	missense	9816	0	0					g.chr1:229790133A>G	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.4375A>G	chr1.hg19:g.229790133A>G	ENSP00000258243:p.Lys1459Glu	1						p.K1459E	NM_014777.2	NP_055592.2	1	2	3	2.185793	Q14146	URB2_HUMAN		9	4511	+			Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	1	1	hg19	c.4375A>G	CCDS31052.1	0	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769447	0.69992	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	4.95	4.95	0.65309	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092536	0.85682	D	0.000000	T	0.54743	0.1877	L	0.41824	1.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	9	.	.	.	-29.2915	14.9107	0.70755	1.0:0.0:0.0:0.0	.	1459	Q14146	URB2_HUMAN	E	1459;75	ENSP00000258243:K1459E;ENSP00000395107:K75E	.	K	+	1	0	0	URB2	227856756	227856756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.236000	0.89805	1.976000	0.57569	0.528000	0.53228	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-9.706978	1	0.170000	NM_014777			10	10		414	405	0		1	0		0	0	68	0		9.966081e-01	4.332579e-01	0	1	0	57	0	10	414
URB2	9816	broad.mit.edu	37	1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1518						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				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						AAACATGAAGGAGAGAAAAGA	0.507																																						ENST00000258243.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(4552-4554)gGa>gAa		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							104.0	110.0	108.0					1																	229795022		2203	4300	6503	SO:0001583	missense	9816	0	0					g.chr1:229795022G>A	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.4553G>A	chr1.hg19:g.229795022G>A	ENSP00000258243:p.Gly1518Glu	1						p.G1518E	NM_014777.2	NP_055592.2	1	2	3	2.185793	Q14146	URB2_HUMAN		10	4689	+			Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	1	1	hg19	c.4553G>A	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282062	0.80692	.	.	ENSG00000135763	ENST00000258243	T	0.50548	0.74	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.050544	0.85682	D	0.000000	T	0.63046	0.2478	M	0.61703	1.905	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.61695	-0.7010	9	.	.	.	-11.8818	14.6098	0.68507	0.0:0.1456:0.8543:0.0	.	1518	Q14146	URB2_HUMAN	E	1518	ENSP00000258243:G1518E	.	G	+	2	0	0	URB2	227861645	227861645	1.000000	0.71417	0.663000	0.29738	0.965000	0.64279	6.264000	0.72527	2.576000	0.86940	0.650000	0.86243	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	1	0	0		2	2	2	0		0	0	131		131	129	1	2.060000	-6.109253	1	0.170000	NM_014777			190	187		593	581	1		1	1		0	0	131	0		1	9.999627e-01	0	27	0	21	0	190	593
GALNT2	2590	broad.mit.edu	37	1	230391082	230391082	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230391082C>A	ENST00000366672.4	+	11	1200	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	GALNT2_ENST00000541865.1_Missense_Mutation_p.L252I|GALNT2_ENST00000543760.1_Silent_p.V338V	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	376					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)			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)				GTGGCACTGTCTTTGCCCGGT	0.582																																						ENST00000366672.4	0.730000	0.270000	6.000000e-01	3.600000e-01	0.470000	0.490593	0.470000	0.460000																										0				32						c.(1126-1128)gtC>gtA		polypeptide N-acetylgalactosaminyltransferase 2							135.0	103.0	114.0					1																	230391082		2203	4300	6503	SO:0001819	synonymous_variant	2590	0	0					g.chr1:230391082C>A	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.1128C>A	chr1.hg19:g.230391082C>A		1					GALNT2_ENST00000541865.1_Missense_Mutation_p.L252I|GALNT2_ENST00000543760.1_Silent_p.V338V	p.V376V	NM_004481.3	NP_004472.1	1	2	3	2.185793	Q10471	GALT2_HUMAN		11	1200	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	1	1	hg19	c.1128C>A	CCDS1582.1	0	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420611	0.04734	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	1.93	0.25924	4.97	1.93	0.25924	.	.	.	.	.	T	0.20861	0.0502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07139	-1.0788	6	0.10902	T	0.67	.	0.7754	0.01031	0.3337:0.2675:0.2233:0.1756	.	.	.	.	I	252	ENSP00000444346:L252I	ENSP00000444346:L252I	L	+	1	0	0	GALNT2	228457705	228457705	0.984000	0.35163	1.000000	0.80357	0.959000	0.62525	0.146000	0.16180	0.514000	0.28300	-0.261000	0.10672	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-14.769800	1	0.170000	NM_004481			15	15		396	391	0		1	1		0	0	73	0		9.998653e-01	9.999678e-01	0	13	0	473	0	15	396
GALNT2	2590	broad.mit.edu	37	1	230398351	230398351	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230398351A>G	ENST00000366672.4	+	12	1241	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	GALNT2_ENST00000541865.1_Silent_p.G265G|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	390					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)			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)				GTCTGGATGGATGAATACAAA	0.433																																						ENST00000366672.4	0.270000	0.100000	2.300000e-01	1.300000e-01	0.170000	0.184954	0.170000	0.180000																										0				32						c.(1168-1170)gAt>gGt		polypeptide N-acetylgalactosaminyltransferase 2							136.0	158.0	151.0					1																	230398351		2203	4300	6503	SO:0001583	missense	2590	0	0					g.chr1:230398351A>G	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.1169A>G	chr1.hg19:g.230398351A>G	ENSP00000355632:p.Asp390Gly	1					GALNT2_ENST00000541865.1_Silent_p.G265G|GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR	p.D390G	NM_004481.3	NP_004472.1	1	2	3	2.185793	Q10471	GALT2_HUMAN		12	1241	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	0	1	hg19	c.1169A>G	CCDS1582.1	0	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386202	0.82902	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.71579	-0.58;-0.58	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.91920	3.255	0.80722	D	1	P;P	0.52577	0.924;0.954	B;P	0.49252	0.4;0.604	D	0.86630	0.1885	10	0.87932	D	0	.	14.5694	0.68202	1.0:0.0:0.0:0.0	.	390;352	Q10471;G3V1S6	GALT2_HUMAN;.	G	352;390;271	ENSP00000445017:D352G;ENSP00000355632:D390G	ENSP00000355632:D390G	D	+	2	0	0	GALNT2	228464974	228464974	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	9.268000	0.95675	1.906000	0.55180	0.379000	0.24179	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	0	0		2	2	2	0		0	0	207		207	207	1	2.060000	-2.879492	1	0.170000	NM_004481			19	18		1356	1323	0		1	1		0	0	207	0		9.999874e-01	9.187873e-01	0	3	0	305	0	19	1356
GALNT2	2590	broad.mit.edu	37	1	230415072	230415072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Silent_p.N490N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			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)				TCGAGGGCAACTCCAAGCTGA	0.587																																						ENST00000366672.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1582-1584)aaC>aaT		polypeptide N-acetylgalactosaminyltransferase 2							69.0	62.0	65.0					1																	230415072		2203	4300	6503	SO:0001819	synonymous_variant	2590	0	0					g.chr1:230415072C>T	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.1584C>T	chr1.hg19:g.230415072C>T		1					GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	p.N528N	NM_004481.3	NP_004472.1	1	2	3	2.185793	Q10471	GALT2_HUMAN		16	1656	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	1	1	hg19	c.1584C>T	CCDS1582.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_004481			79	77		202	200	1		1	1		0	0	44	0		1	1	0	121	0	331	0	79	202
PGBD5	79605	broad.mit.edu	37	1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000525115.1	-	4	850	c.827G>T	c.(826-828)aGc>aTc	p.S276I	PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I|PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	276						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587																																						ENST00000525115.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(826-828)aGc>aTc		piggyBac transposable element derived 5							108.0	99.0	102.0					1																	230472895		2203	4300	6503	SO:0001583	missense	79605	0	0					g.chr1:230472895C>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.827G>T	chr1.hg19:g.230472895C>A	ENSP00000431404:p.Ser276Ile	1					PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I|PGBD5_ENST00000530424.1_5'Flank	p.S276I			1	2	3	2.185793	Q8N414	PGBD5_HUMAN		4	850	-	Breast(184;0.0397)	Prostate(94;0.167)	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	1	1	hg19	c.827G>T		1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.003363	0.74932	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.086170	0.85682	D	0.000000	T	0.30479	0.0766	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07009	-1.0795	10	0.48119	T	0.1	-37.2023	18.7377	0.91761	0.0:1.0:0.0:0.0	.	276	Q8N414	PGBD5_HUMAN	I	230;375;276	ENSP00000375733:S230I;ENSP00000322530:S375I;ENSP00000431404:S276I	ENSP00000322530:S375I	S	-	2	0	0	PGBD5	228539518	228539518	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.167000	0.71902	2.409000	0.81822	0.585000	0.79938	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_024554			133	130		400	392	1		1	0		0	0	96	0		1	9.169208e-01	0	0	0	15	0	133	400
COG2	22796	broad.mit.edu	37	1	230805179	230805179	+	Silent	SNP	C	C	T	rs186499102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000366669.4	+	7	787	c.672C>T	c.(670-672)gtC>gtT	p.V224V	COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000366668.3_Silent_p.V224V|COG2_ENST00000534989.1_Silent_p.V165V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	224					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19624	0.001		0.0	False		,,,				2504	0.0					ENST00000366669.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(670-672)gtC>gtT		component of oligomeric golgi complex 2							120.0	105.0	110.0					1																	230805179		2203	4300	6503	SO:0001819	synonymous_variant	22796	4	121412	36				g.chr1:230805179C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.672C>T	chr1.hg19:g.230805179C>T		1					COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000534989.1_Silent_p.V165V|COG2_ENST00000366668.3_Silent_p.V224V	p.V224V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	1	2	3	2.185793	Q14746	COG2_HUMAN		7	787	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	Q86U99	Silent	SNP	ENST00000366669.4	1	1	hg19	c.672C>T	CCDS1584.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	1	0	0		2	2	2	0		0	0	102		102	100	1	2.060000	-4.610796	1	0.170000	NM_007357			117	115		381	377	1		1	1		0	0	102	0		1	1	0	36	0	57	0	117	381
COG2	22796	broad.mit.edu	37	1	230805251	230805251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000366669.4	+	7	859	c.744C>T	c.(742-744)ggC>ggT	p.G248G	COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000366668.3_Silent_p.G248G|COG2_ENST00000534989.1_Silent_p.G189G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	248					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTTAGTTGGCCAAGTACTAG	0.483																																						ENST00000366669.4	0.930000	0.300000	7.500000e-01	4.200000e-01	0.570000	0.593832	0.570000	0.540000																										0				27						c.(742-744)ggC>ggT		component of oligomeric golgi complex 2							86.0	71.0	76.0					1																	230805251		2203	4300	6503	SO:0001819	synonymous_variant	22796	0	0					g.chr1:230805251C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.744C>T	chr1.hg19:g.230805251C>T		1					COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000534989.1_Silent_p.G189G|COG2_ENST00000366668.3_Silent_p.G248G	p.G248G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	1	2	3	2.185793	Q14746	COG2_HUMAN		7	859	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	Q86U99	Silent	SNP	ENST00000366669.4	1	1	hg19	c.744C>T	CCDS1584.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	0	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-12.726980	1	0.170000	NM_007357			11	11		241	239	0		1	1		0	0	54	0		9.983674e-01	8.907013e-01	0	4	0	84	0	11	241
COG2	22796	broad.mit.edu	37	1	230820883	230820883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000366669.4	+	12	1396	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R|COG2_ENST00000534989.1_Silent_p.R368R|COG2_ENST00000546013.1_Silent_p.R116R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	427					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438																																						ENST00000366669.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1279-1281)agG>agA		component of oligomeric golgi complex 2							265.0	234.0	244.0					1																	230820883		2203	4300	6503	SO:0001819	synonymous_variant	22796	0	0					g.chr1:230820883G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1281G>A	chr1.hg19:g.230820883G>A		1					COG2_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000534989.1_Silent_p.R368R|COG2_ENST00000366668.3_Silent_p.R427R	p.R427R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	1	2	3	2.185793	Q14746	COG2_HUMAN		12	1396	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	Q86U99	Silent	SNP	ENST00000366669.4	1	1	hg19	c.1281G>A	CCDS1584.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-3.144845	1	0.170000	NM_007357			122	119		628	619	1		1	1		0	0	123	0		1	9.999999e-01	0	26	0	88	0	122	628
AGT	183	broad.mit.edu	37	1	230846565	230846565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230846565G>T	ENST00000366667.4	-	2	246	c.32C>A	c.(31-33)gCt>gAt	p.A11D	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11					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)			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)		ACCGGCAGGAGCCATCTCAGA	0.567																																						ENST00000366667.4	0.780000	0.300000	6.500000e-01	3.900000e-01	0.510000	0.530135	0.510000	0.510000																										0				25						c.(31-33)gCt>gAt		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)							44.0	44.0	44.0					1																	230846565		2203	4300	6503	SO:0001583	missense	183	0	0					g.chr1:230846565G>T	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.32C>A	chr1.hg19:g.230846565G>T	ENSP00000355627:p.Ala11Asp	1					RP11-99J16__A.2_ENST00000412344.1_RNA	p.A11D	NM_000029.3	NP_000020.1	1	2	3	2.185793	P01019	ANGT_HUMAN		2	246	-	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)	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	1	1	hg19	c.32C>A	CCDS1585.1	0	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009170	0.35415	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.82167	-1.58	5.37	0.101	0.14517	5.37	0.101	0.14517	.	1.311970	0.05099	N	0.486836	T	0.76033	0.3931	L	0.51422	1.61	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.09377	0.002;0.004;0.002	T	0.58741	-0.7583	10	0.72032	D	0.01	.	1.6063	0.02684	0.2446:0.156:0.4607:0.1388	.	11;11;11	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	D	11	ENSP00000355627:A11D	ENSP00000355627:A11D	A	-	2	0	0	AGT	228913188	228913188	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.032000	0.13732	-0.157000	0.11059	-0.310000	0.09108	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-16.115130	1	0.170000	NM_000029			16	16		388	382	0		1	0		0	0	52	0		9.999283e-01	7.595714e-01	0	0	0	68	0	16	388
TRIM67	440730	broad.mit.edu	37	1	231339671	231339671	+	Silent	SNP	G	G	A	rs371749809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231339671G>A	ENST00000366653.5	+	6	1593	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000444294.3_Silent_p.T529T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	531	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)			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)				ACAGCGTCACGCTGGCCTGGA	0.652																																						ENST00000366653.5	0.860000	0.190000	6.600000e-01	3.000000e-01	0.450000	0.486434	0.450000	0.420000																										0				29						c.(1591-1593)acG>acA		tripartite motif containing 67							48.0	59.0	55.0					1																	231339671		2121	4222	6343	SO:0001819	synonymous_variant	440730	10	121110	41				g.chr1:231339671G>A	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.1593G>A	chr1.hg19:g.231339671G>A		1					TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000444294.3_Silent_p.T529T	p.T531T			1	2	3	2.185793	Q6ZTA4	TRI67_HUMAN		6	1593	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	0	1	hg19	c.1593G>A	CCDS44333.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.318789	1	0.170000	NM_001004342			6	6		172	166	0		1			0	0	49	0		9.619285e-01	0	0	0	0	0	0	6	172
MORN1	79906	broad.mit.edu	37	1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378531.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597																																						ENST00000378531.3	0.980000	0.610000	9.200000e-01	7.100000e-01	0.810000	0.819343	0.810000	0.830000																										0				9						c.(319-321)Gga>Aga		MORN repeat containing 1							131.0	120.0	124.0					1																	2318897		2203	4300	6503	SO:0001583	missense	79906	3	121412	36				g.chr1:2318897C>T	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.319G>A	chr1.hg19:g.2318897C>T	ENSP00000367792:p.Gly107Arg	1					MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	p.G107R	NM_024848.1	NP_079124.1	0	1	1	1.838767	Q5T089	MORN1_HUMAN		4	492	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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)	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	1	1	hg19	c.319G>A	CCDS40.1	0	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279792	0.59758	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.57107	1.0;1.0;0.42	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000059	T	0.61009	0.2313	L	0.38953	1.18	0.38970	D	0.958727	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.846;0.993;0.999	T	0.58211	-0.7676	10	0.21014	T	0.42	.	14.8721	0.70465	0.0:1.0:0.0:0.0	.	83;107;107	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	R	107;107;83	ENSP00000367792:G107R;ENSP00000367790:G107R;ENSP00000367786:G83R	ENSP00000367786:G83R	G	-	1	0	0	MORN1	2308757	2308757	0.554000	0.26522	0.133000	0.22050	0.493000	0.33554	4.424000	0.59868	2.073000	0.62155	0.561000	0.74099	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-2.744762	1	0.170000	NM_024848			44	44		518	508	0		1	1		0	0	133	0		1	5.043507e-01	0	4	0	17	0	44	518
EPHB2	2048	broad.mit.edu	37	1	23191452	23191452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000544305.1_Silent_p.S350S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	350	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCGCGACTCCGGAGGCCGAG	0.657																																						ENST00000400191.3	0.990000	0.700000	9.600000e-01	7.900000e-01	0.880000	0.878342	0.880000	0.910000																										0				56						c.(1048-1050)tcC>tcT		EPH receptor B2							65.0	72.0	70.0					1																	23191452		2203	4300	6503	SO:0001819	synonymous_variant	2048	1	121406	34				g.chr1:23191452C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1050C>T	chr1.hg19:g.23191452C>T		1					EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|MIR4253_ENST00000581187.1_RNA	p.S350S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	0	1	1	1.828421	P29323	EPHB2_HUMAN		5	1068	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	1	1	hg19	c.1050C>T		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-2.966611	1	0.170000	NM_017449			66	64		707	682	0		1	1		0	0	129	0		1	8.554609e-01	0	2	0	37	0	66	707
EPHB2	2048	broad.mit.edu	37	1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	566					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATCGTGTGTAACAGGTGGGTG	0.577																																						ENST00000400191.3	0.920000	0.420000	8.100000e-01	5.300000e-01	0.660000	0.675221	0.660000	0.660000																										0				56						c.(1696-1698)aAc>aGc		EPH receptor B2							101.0	88.0	92.0					1																	23222070		2203	4300	6503	SO:0001583	missense	2048	0	0					g.chr1:23222070A>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1697A>G	chr1.hg19:g.23222070A>G	ENSP00000383053:p.Asn566Ser	1					EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S	p.N566S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	0	1	1	1.828421	P29323	EPHB2_HUMAN		8	1715	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	1	1	hg19	c.1697A>G		0	.	.	.	.	.	.	.	.	.	.	A	6.939	0.543039	0.13250	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.430341	0.23937	N	0.043085	T	0.02848	0.0085	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45411	-0.9263	10	0.22109	T	0.4	.	8.3167	0.32104	0.9114:0.0:0.0886:0.0	.	566;584;566	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	S	566;566;566;561	ENSP00000363761:N566S;ENSP00000383053:N566S;ENSP00000363763:N566S;ENSP00000363758:N561S	ENSP00000363758:N561S	N	+	2	0	0	EPHB2	23094657	23094657	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	1.048000	0.30379	2.082000	0.62665	0.533000	0.62120	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-19.999970	1	0.170000	NM_017449			21	21		314	306	0		1	0		0	0	76	0		9.999972e-01	8.684143e-01	0	0	0	56	0	21	314
EPHB2	2048	broad.mit.edu	37	1	23240353	23240353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23240353G>A	ENST00000400191.3	+	17	3176	c.3158G>A	c.(3157-3159)tGc>tAc	p.C1053Y	RP1-74M1.3_ENST00000610135.1_lincRNA|EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1053					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACTGTTCTTGCGGGGGATAA	0.463																																						ENST00000400191.3	0.990000	0.390000	9.400000e-01	5.800000e-01	0.780000	0.762596	0.780000	0.970000																										0				56						c.(3157-3159)tGc>tAc		EPH receptor B2							34.0	37.0	36.0					1																	23240353		1568	3582	5150	SO:0001583	missense	2048	0	0					g.chr1:23240353G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3158G>A	chr1.hg19:g.23240353G>A	ENSP00000383053:p.Cys1053Tyr	1					EPHB2_ENST00000374632.3_3'UTR|RP1-74M1.3_ENST00000610135.1_lincRNA	p.C1053Y	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	0	1	1	1.828421	P29323	EPHB2_HUMAN		17	3176	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	0	1	hg19	c.3158G>A		0	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599461	0.03744	.	.	ENSG00000133216	ENST00000400191	T	0.73681	-0.77	0.688	-0.403	0.12400	0.688	-0.403	0.12400	.	.	.	.	.	T	0.68659	0.3025	.	.	.	0.41567	D	0.988662	P	0.39520	0.676	B	0.42343	0.384	T	0.65557	-0.6139	7	0.87932	D	0	.	.	.	.	.	1053	P29323	EPHB2_HUMAN	Y	1053	ENSP00000383053:C1053Y	ENSP00000383053:C1053Y	C	+	2	0	0	EPHB2	23112940	23112940	0.964000	0.33143	0.535000	0.28026	0.496000	0.33645	1.743000	0.38258	-0.191000	0.10448	0.400000	0.26472	TGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-11.606720	1	0.170000	NM_017449			6	6		53	53	1		1	0		0	0	19	0		9.676825e-01	9.434529e-01	0	1	0	48	0	6	53
DISC1	27185	broad.mit.edu	37	1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000602281.1	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000439617.2_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	151	Interaction with MAP1A.				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)				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)				TGCAGCCATGGATAGTTCTGA	0.612																																						ENST00000602281.1	1.000000	0.750000	1	9.200000e-01	0.990000	0.969897	0.990000	1.000000																										0				15						c.(451-453)Gat>Tat		disrupted in schizophrenia 1							45.0	46.0	46.0					1																	231829955		2203	4300	6503	SO:0001583	missense	27185	0	0					g.chr1:231829955G>T	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.451G>T	chr1.hg19:g.231829955G>T	ENSP00000473425:p.Asp151Tyr	1					TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y	p.D151Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	1	2	3	2.185793	Q9NRI5	DISC1_HUMAN		2	504	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	1	1	hg19	c.451G>T	CCDS59205.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048278	0.55110	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.89	2.94	0.34122	4.89	2.94	0.34122	.	0.558568	0.18836	N	0.129833	T	0.40297	0.1111	L	0.36672	1.1	0.21290	N	0.99974	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.844;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.974	P;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P	0.78314	0.534;0.988;0.961;0.991;0.988;0.961;0.988;0.988;0.988;0.988;0.705;0.988;0.991;0.988;0.964;0.977;0.991;0.964;0.977;0.988;0.705	T	0.04255	-1.0965	10	0.44086	T	0.13	-23.4826	9.4905	0.38955	0.0:0.1529:0.6902:0.1569	.	151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151	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;.;.	Y	151;151;151;151;151;151;151;151;151;151;151;151;2	ENSP00000403888:D151Y;ENSP00000320784:D151Y;ENSP00000355596:D151Y;ENSP00000443996:D151Y;ENSP00000440909:D151Y;ENSP00000355593:D151Y;ENSP00000440953:D151Y;ENSP00000295051:D151Y;ENSP00000441193:D151Y	ENSP00000295051:D151Y	D	+	1	0	0	DISC1	229896578	229896578	0.945000	0.32115	0.881000	0.34555	0.052000	0.14988	2.216000	0.42871	2.519000	0.84933	0.655000	0.94253	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_018662			25	25		261	260	0		1	0		0	0	48	0		9.999999e-01	1.602466e-01	0	0	0	8	0	25	261
SIPA1L2	57568	broad.mit.edu	37	1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1703					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			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)				CTGAGCTGTCGCGGTCTGGGA	0.517																																						ENST00000366630.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(5107-5109)gCg>gTg		signal-induced proliferation-associated 1 like 2							124.0	124.0	124.0					1																	232534934		2091	4251	6342	SO:0001583	missense	57568	2	121080	31				g.chr1:232534934G>A	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.5108C>T	chr1.hg19:g.232534934G>A	ENSP00000355589:p.Ala1703Val	1					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V	p.A1703V			1	2	3	2.185793	Q9P2F8	SI1L2_HUMAN		22	5466	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	1	1	hg19	c.5108C>T	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585424	0.86748	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.88818	-2.43;-2.43;1.47	4.99	4.07	0.47477	4.99	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.83953	2.67	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.95329	0.8428	10	0.87932	D	0	-32.8176	15.5869	0.76491	0.0:0.1381:0.8619:0.0	.	1703;759	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1703;1703;759	ENSP00000355589:A1703V;ENSP00000262861:A1703V;ENSP00000309102:A759V	ENSP00000262861:A1703V	A	-	2	0	0	SIPA1L2	230601557	230601557	1.000000	0.71417	0.082000	0.20525	0.806000	0.45545	9.653000	0.98506	1.319000	0.45190	0.460000	0.39030	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	XM_045839			77	77		213	211	1		1	1		0	0	59	0		1	1	0	26	0	75	0	77	213
SIPA1L2	57568	broad.mit.edu	37	1	232596697	232596697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232596697G>T	ENST00000366630.1	-	9	3389	c.3031C>A	c.(3031-3033)Ctc>Atc	p.L1011I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1011	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			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)				GAAGTACGGAGCAGGTCGATC	0.602																																						ENST00000366630.1	0.660000	0.210000	5.300000e-01	2.900000e-01	0.390000	0.417035	0.390000	0.390000																										0				103						c.(3031-3033)Ctc>Atc		signal-induced proliferation-associated 1 like 2							39.0	41.0	41.0					1																	232596697		2203	4300	6503	SO:0001583	missense	57568	0	0					g.chr1:232596697G>T	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.3031C>A	chr1.hg19:g.232596697G>T	ENSP00000355589:p.Leu1011Ile	1					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I	p.L1011I			1	2	3	2.185793	Q9P2F8	SI1L2_HUMAN		9	3389	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	1	1	hg19	c.3031C>A	CCDS41474.1	0	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540507	0.85917	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.72505	-0.66;-0.66;-0.66	5.64	4.71	0.59529	5.64	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76688	0.4022	L	0.38733	1.17	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77955	-0.2393	10	0.87932	D	0	-23.9498	13.093	0.59176	0.1215:0.0:0.8785:0.0	.	1011;85	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	I	1011;1011;85	ENSP00000355589:L1011I;ENSP00000262861:L1011I;ENSP00000309102:L85I	ENSP00000262861:L1011I	L	-	1	0	0	SIPA1L2	230663320	230663320	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.623000	0.54224	2.816000	0.96949	0.563000	0.77884	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	0	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-11.453970	1	0.170000	XM_045839			11	11		351	344	0		1	1		0	0	52	0		9.982097e-01	5.724462e-01	0	3	0	56	0	11	351
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T	rs369266455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	321					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			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)				ATTCCAAGGGCGAATGCCCCT	0.468																																						ENST00000366630.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(961-963)cGc>cAc		signal-induced proliferation-associated 1 like 2		C	HIS/ARG	1,3907		0,1,1953	57.0	59.0	58.0		962	4.5	1.0	1		58	0,8304		0,0,4152	no	missense	SIPA1L2	NM_020808.3	29	0,1,6105	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	321/1723	232650124	1,12211	1954	4152	6106	SO:0001583	missense	57568	5	120884	40				g.chr1:232650124C>T	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.962G>A	chr1.hg19:g.232650124C>T	ENSP00000355589:p.Arg321His	1					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H	p.R321H			1	2	3	2.185793	Q9P2F8	SI1L2_HUMAN		2	1320	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	1	1	hg19	c.962G>A	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571675	0.45798	2.56E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82433	-1.61;-1.61	5.39	4.49	0.54785	5.39	4.49	0.54785	.	0.063541	0.64402	D	0.000003	T	0.78168	0.4241	L	0.59436	1.845	0.45899	D	0.998748	B	0.26547	0.152	B	0.23419	0.046	T	0.76570	-0.2911	10	0.62326	D	0.03	-25.2195	8.5231	0.33289	0.0:0.7729:0.0:0.2271	.	321	Q9P2F8	SI1L2_HUMAN	H	321	ENSP00000355589:R321H;ENSP00000262861:R321H	ENSP00000262861:R321H	R	-	2	0	0	SIPA1L2	230716747	230716747	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	0.907000	0.28531	1.517000	0.48917	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	XM_045839			71	71		346	339	1		1	1		0	0	76	0		1	9.998718e-01	0	12	0	54	0	71	346
SIPA1L2	57568	broad.mit.edu	37	1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	296					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			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)				TTTAACAGTTCGAAGCTTTCG	0.502																																						ENST00000366630.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(886-888)cGa>cAa		signal-induced proliferation-associated 1 like 2							67.0	69.0	68.0					1																	232650199		1916	4123	6039	SO:0001583	missense	57568	0	0					g.chr1:232650199C>T	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.887G>A	chr1.hg19:g.232650199C>T	ENSP00000355589:p.Arg296Gln	1					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q	p.R296Q			1	2	3	2.185793	Q9P2F8	SI1L2_HUMAN		2	1245	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	1	1	hg19	c.887G>A	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961471	0.74016	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.84442	-1.85;-1.85	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.69358	2.11	0.51767	D	0.999933	D	0.76494	0.999	D	0.67900	0.954	D	0.91448	0.5179	10	0.66056	D	0.02	-24.867	19.6787	0.95950	0.0:1.0:0.0:0.0	.	296	Q9P2F8	SI1L2_HUMAN	Q	296	ENSP00000355589:R296Q;ENSP00000262861:R296Q	ENSP00000262861:R296Q	R	-	2	0	0	SIPA1L2	230716822	230716822	0.975000	0.34042	0.930000	0.37139	0.978000	0.69477	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	0		2	2	2	0		0	0	86		86	86	1	2.060000	-4.604653	1	0.170000	XM_045839			94	93		307	305	1		1	1		0	0	86	0		1	9.998818e-01	0	15	0	31	0	94	307
PCNXL2	80003	broad.mit.edu	37	1	233122221	233122221	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1953	Ser-rich.					integral component of membrane (GO:0016021)				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)				GATGAGCTCAGCATGGGCGGC	0.602																																						ENST00000258229.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999502	0.990000	1.000000																										0				86						c.(5857-5859)Ctg>Ttg		pecanex-like 2 (Drosophila)							20.0	26.0	24.0					1																	233122221		2083	4203	6286	SO:0001819	synonymous_variant	80003	0	0					g.chr1:233122221G>A	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.5857C>T	chr1.hg19:g.233122221G>A		1					PCNXL2_ENST00000344698.2_Silent_p.L605L	p.L1953L	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		33	6091	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	0	1	hg19	c.5857C>T	CCDS44335.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999340	1	0.170000	NM_014801			13	13		66	66	1		1	1		0	0	14	0		9.996902e-01	8.151034e-01	0	4	0	14	0	13	66
PCNXL2	80003	broad.mit.edu	37	1	233134991	233134991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1821						integral component of membrane (GO:0016021)				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)				GGGGCTGATCGCAGGAGGAGT	0.547																																						ENST00000258229.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(5461-5463)tgC>tgT		pecanex-like 2 (Drosophila)							63.0	65.0	64.0					1																	233134991		1921	4136	6057	SO:0001819	synonymous_variant	80003	2	120898	29				g.chr1:233134991G>A	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.5463C>T	chr1.hg19:g.233134991G>A		1					PCNXL2_ENST00000344698.2_Silent_p.C473C	p.C1821C	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		31	5697	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	1	1	hg19	c.5463C>T	CCDS44335.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.996190	1	0.170000	NM_014801			30	30		94	93	1		1	1		0	0	22	0		1	9.766015e-01	0	3	0	19	0	30	94
PCNXL2	80003	broad.mit.edu	37	1	233136143	233136143	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.9	-	30	5470	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	PCNXL2_ENST00000344698.2_Silent_p.L398L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1746						integral component of membrane (GO:0016021)				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)				AGGGTGAGCAGCTCTTCCTTG	0.607																																						ENST00000258229.9	0.440000	0.140000	3.600000e-01	2.000000e-01	0.270000	0.284493	0.270000	0.270000																										0				86						c.(5236-5238)Ctg>Ttg		pecanex-like 2 (Drosophila)							102.0	104.0	104.0					1																	233136143		2088	4209	6297	SO:0001819	synonymous_variant	80003	0	0					g.chr1:233136143G>A	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.5236C>T	chr1.hg19:g.233136143G>A		1					PCNXL2_ENST00000344698.2_Silent_p.L398L	p.L1746L	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		30	5470	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	0	1	hg19	c.5236C>T	CCDS44335.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	0	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-9.695969	1	0.170000	NM_014801			12	12		566	556	0		1	0		0	0	103	0		9.990296e-01	2.546988e-02	0	0	0	11	0	12	566
PCNXL2	80003	broad.mit.edu	37	1	233136192	233136192	+	Silent	SNP	G	G	A	rs377277630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1729						integral component of membrane (GO:0016021)				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)				GGTCGCCCTCGTGGCAGATGA	0.622																																						ENST00000258229.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(5185-5187)caC>caT		pecanex-like 2 (Drosophila)		G		1,4069		0,1,2034	63.0	65.0	64.0		5187	-4.8	0.9	1		64	0,8344		0,0,4172	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6206	AA,AG,GG		0.0,0.0246,0.0081		1729/2138	233136192	1,12413	2035	4172	6207	SO:0001819	synonymous_variant	80003	4	120924	36				g.chr1:233136192G>A	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.5187C>T	chr1.hg19:g.233136192G>A		1					PCNXL2_ENST00000344698.2_Silent_p.H381H	p.H1729H	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		30	5421	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	1	1	hg19	c.5187C>T	CCDS44335.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014801			53	51		280	272	0		1	1		0	0	55	0		1	7.156700e-01	0	3	0	12	0	53	280
PCNXL2	80003	broad.mit.edu	37	1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1378						integral component of membrane (GO:0016021)				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)				TTCTTACCTGGATCTCTTTCA	0.393																																						ENST00000258229.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				86						c.(4132-4134)Cca>Tca		pecanex-like 2 (Drosophila)							103.0	96.0	99.0					1																	233192981		1840	4085	5925	SO:0001583	missense	80003	0	0					g.chr1:233192981G>A	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.4132C>T	chr1.hg19:g.233192981G>A	ENSP00000258229:p.Pro1378Ser	1					PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	p.P1378S	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		24	4366	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	1	1	hg19	c.4132C>T	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143950	0.37825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.89	5.8	3.9	0.45041	5.8	3.9	0.45041	.	0.329396	0.36519	N	0.002548	T	0.22781	0.0550	L	0.46885	1.475	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.14023	0.009;0.01	T	0.03148	-1.1067	10	0.45353	T	0.12	.	10.3576	0.43974	0.0755:0.4085:0.516:0.0	.	1378;30	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	30;1378	ENSP00000340759:P30S;ENSP00000258229:P1378S	ENSP00000258229:P1378S	P	-	1	0	0	PCNXL2	231259604	231259604	0.974000	0.33945	0.999000	0.59377	0.989000	0.77384	0.916000	0.28651	0.769000	0.33313	0.655000	0.94253	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_014801			15	15		53	51	1		1	1		0	0	10	0		9.999181e-01	7.338643e-01	0	3	0	8	0	15	53
PCNXL2	80003	broad.mit.edu	37	1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T	rs574508476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	934						integral component of membrane (GO:0016021)				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)				CCATACACAACGTAACTGGGA	0.448																																						ENST00000258229.9	1.000000	0.670000	1	8.300000e-01	0.990000	0.941454	0.990000	1.000000																										0				86						c.(2800-2802)Gtt>Att		pecanex-like 2 (Drosophila)							109.0	103.0	105.0					1																	233344327		1914	4115	6029	SO:0001583	missense	80003	3	120862	37				g.chr1:233344327C>T	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.2800G>A	chr1.hg19:g.233344327C>T	ENSP00000258229:p.Val934Ile	1					PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	p.V934I	NM_014801.3	NP_055616.3	1	2	3	2.185793	A6NKB5	PCX2_HUMAN		13	3034	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	1	1	hg19	c.2800G>A	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236571	0.10023	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.8	-5.52	0.02560	5.8	-5.52	0.02560	.	.	.	.	.	T	0.46405	0.1391	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.001	B;B	0.12156	0.007;0.001	T	0.31052	-0.9957	9	0.36615	T	0.2	.	14.7768	0.69736	0.0:0.3611:0.0:0.6389	.	233;934	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	I	934;67;103;233	ENSP00000258229:V934I;ENSP00000430820:V67I;ENSP00000429231:V103I;ENSP00000394703:V233I	ENSP00000258229:V934I	V	-	1	0	0	PCNXL2	231410950	231410950	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.854000	0.04299	-1.021000	0.03350	-2.757000	0.00123	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_014801			23	23		264	259	1		1	1		0	0	57	0		9.999994e-01	6.555777e-01	0	5	0	22	0	23	264
KCNK1	3775	broad.mit.edu	37	1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A	rs199630093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	182					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16427	0.0		0.0	False		,,,				2504	0.0					ENST00000366621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(544-546)Gtc>Atc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)						159.0	125.0	137.0					1																	233802529		2203	4300	6503	SO:0001583	missense	3775	2	121412	35				g.chr1:233802529G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.544G>A	chr1.hg19:g.233802529G>A	ENSP00000355580:p.Val182Ile	1					KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	p.V182I	NM_002245.3	NP_002236.1	1	2	3	2.185793	O00180	KCNK1_HUMAN		2	712	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	1	1	hg19	c.544G>A	CCDS1599.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.11	1.259144	0.23051	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.92;-4.38;-4.38	5.91	4.81	0.61882	5.91	4.81	0.61882	.	0.308108	0.36134	N	0.002768	D	0.88731	0.6516	N	0.03324	-0.35	0.36554	D	0.872027	B	0.11235	0.004	B	0.06405	0.002	D	0.84840	0.0807	10	0.07482	T	0.82	.	10.5251	0.44943	0.141:0.0:0.859:0.0	.	182	O00180	KCNK1_HUMAN	I	182;66;100	ENSP00000355580:V182I;ENSP00000355579:V66I;ENSP00000409626:V100I	ENSP00000355579:V66I	V	+	1	0	0	KCNK1	231869152	231869152	0.998000	0.40836	0.842000	0.33263	0.552000	0.35366	3.077000	0.50089	2.793000	0.96121	0.655000	0.94253	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_002245			146	140		338	334	1		1	1		0	0	58	0		1	1	0	243	0	207	0	146	338
KCNK1	3775	broad.mit.edu	37	1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	200					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532																																						ENST00000366621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(598-600)Gcc>Acc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)						154.0	136.0	142.0					1																	233802583		2203	4300	6503	SO:0001583	missense	3775	0	0					g.chr1:233802583G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.598G>A	chr1.hg19:g.233802583G>A	ENSP00000355580:p.Ala200Thr	1					KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	p.A200T	NM_002245.3	NP_002236.1	1	2	3	2.185793	O00180	KCNK1_HUMAN		2	766	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	1	1	hg19	c.598G>A	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.331415	0.95733	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98400	1.41;-4.91;-4.91	5.7	5.7	0.88788	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99806	1.1038	10	0.59425	D	0.04	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	200	O00180	KCNK1_HUMAN	T	200;84;118	ENSP00000355580:A200T;ENSP00000355579:A84T;ENSP00000409626:A118T	ENSP00000355579:A84T	A	+	1	0	0	KCNK1	231869206	231869206	1.000000	0.71417	0.281000	0.24762	0.877000	0.50540	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	0		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_002245			96	94		545	535	1		1	1		0	0	86	0		1	1	0	189	0	367	0	96	545
KCNK1	3775	broad.mit.edu	37	1	233807174	233807174	+	Silent	SNP	G	G	A	rs147325030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233807174G>A	ENST00000366621.3	+	3	1077	c.909G>A	c.(907-909)tcG>tcA	p.S303S	KCNK1_ENST00000366620.1_Silent_p.S187S|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	303					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CCTTCTCCTCGATCACAGACC	0.488													G|||	41	0.0081869	0.0295	0.0029	5008	,	,		20383	0.0		0.0	False		,,,				2504	0.0					ENST00000366621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(907-909)tcG>tcA		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	G		77,4329	67.6+/-105.2	1,75,2127	80.0	73.0	75.0		909	4.0	1.0	1	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KCNK1	NM_002245.3		1,79,6423	AA,AG,GG		0.0465,1.7476,0.6228		303/337	233807174	81,12925	2203	4300	6503	SO:0001819	synonymous_variant	3775	294	121412	56				g.chr1:233807174G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.909G>A	chr1.hg19:g.233807174G>A		1					KCNK1_ENST00000366620.1_Silent_p.S187S|KCNK1_ENST00000472190.1_3'UTR	p.S303S	NM_002245.3	NP_002236.1	1	2	3	2.185793	O00180	KCNK1_HUMAN		3	1077	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	Q13307|Q5T5E8	Silent	SNP	ENST00000366621.3	1	0	hg19	c.909G>A	CCDS1599.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.348006	0	0.170000	NM_002245			57	56		182	178	1		1	1		0	0	47	0		1	1	0	245	0	177	0	57	182
KDM1A	23028	broad.mit.edu	37	1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000356634.3	+	19	2559	c.2410A>C	c.(2410-2412)Atc>Ctc	p.I804L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.I828L|KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	804	Demethylase activity.				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)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483																																						ENST00000356634.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.984917	0.980000	0.990000																										0				23						c.(2410-2412)Atc>Ctc		lysine (K)-specific demethylase 1A							92.0	82.0	85.0					1																	23409708		2203	4300	6503	SO:0001583	missense	23028	0	0					g.chr1:23409708A>C	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.2410A>C	chr1.hg19:g.23409708A>C	ENSP00000349049:p.Ile804Leu	1					KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|KDM1A_ENST00000400181.4_Missense_Mutation_p.I828L|RP1-184J9.2_ENST00000427154.1_RNA	p.I804L	NM_015013.3	NP_055828.2	0	1	1	1.828421	O60341	KDM1A_HUMAN		19	2559	+			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	1	1	hg19	c.2410A>C	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731644	0.89390	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	5.67	5.67	0.87782	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.65975	2.015	0.80722	D	1	P;P	0.48016	0.802;0.904	P;P	0.58721	0.643;0.844	D	0.94022	0.7293	10	0.42905	T	0.14	-13.296	15.0953	0.72229	1.0:0.0:0.0:0.0	.	828;804	O60341-2;O60341	.;KDM1A_HUMAN	L	804;828;828	ENSP00000349049:I804L;ENSP00000383042:I828L;ENSP00000439072:I828L	ENSP00000349049:I804L	I	+	1	0	0	KDM1A	23282295	23282295	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.252000	0.95491	2.156000	0.67533	0.533000	0.62120	ATC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015013			84	84		332	327	1		1	1		0	0	77	0		1	1	0	66	0	154	0	84	332
LUZP1	7798	broad.mit.edu	37	1	23419834	23419834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	307					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338																																						ENST00000302291.4	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.928564	0.930000	0.990000																										0				31						c.(919-921)tcG>tcA		leucine zipper protein 1							178.0	170.0	173.0					1																	23419834		2203	4300	6503	SO:0001819	synonymous_variant	7798	2	121412	33				g.chr1:23419834C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.921G>A	chr1.hg19:g.23419834C>T		1					LUZP1_ENST00000314174.5_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S	p.S307S			0	1	1	1.828421	Q86V48	LUZP1_HUMAN		4	1722	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	1	1	hg19	c.921G>A	CCDS30628.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-17.909700	1	0.170000	NM_033631			57	56		504	499	1		1	1		0	0	98	0		1	9.937072e-01	0	11	0	59	0	57	504
SLC35F3	148641	broad.mit.edu	37	1	234041356	234041356	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				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)			AGTACTTGGTGGTGGACGAGG	0.657																																						ENST00000366618.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(133-135)gtG>gtT		solute carrier family 35, member F3							51.0	55.0	54.0					1																	234041356		2203	4300	6503	SO:0001819	synonymous_variant	148641	0	0					g.chr1:234041356G>T		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	ENST00000366618.3:c.135G>T	chr1.hg19:g.234041356G>T		1						p.V45V	NM_173508.2	NP_775779.1	1	2	3	2.185793	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)	2	280	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366618.3	1	1	hg19	c.135G>T	CCDS1600.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-4.263155	1	0.170000	NM_173508			106	105		367	360	1		1	1		0	0	43	0		1	4.062068e-01	0	2	0	4	0	106	367
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453																																						ENST00000040877.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(4420-4422)ccG>ccA		TAR (HIV-1) RNA binding protein 1							70.0	71.0	70.0					1																	234529405		2203	4300	6503	SO:0001819	synonymous_variant	6894	2	121412	35				g.chr1:234529405C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4422G>A	chr1.hg19:g.234529405C>T		1					TARBP1_ENST00000483404.1_5'UTR	p.P1474P	NM_005646.3	NP_005637.3	1	2	3	2.185793	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)	27	4421	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	Q9H581	Silent	SNP	ENST00000040877.1	1	1	hg19	c.4422G>A	CCDS1601.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-7.218145	1	0.170000	NM_005646			110	106		282	275	1		1	1		0	0	68	0		1	1	0	25	0	44	0	110	282
TARBP1	6894	broad.mit.edu	37	1	234586199	234586199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	612					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328																																						ENST00000040877.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999350	0.990000	1.000000																										0				55						c.(1834-1836)gaG>gaA		TAR (HIV-1) RNA binding protein 1							79.0	75.0	77.0					1																	234586199		2203	4300	6503	SO:0001819	synonymous_variant	6894	0	0					g.chr1:234586199C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1836G>A	chr1.hg19:g.234586199C>T		1						p.E612E	NM_005646.3	NP_005637.3	1	2	3	2.185793	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)	10	1835	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	Q9H581	Silent	SNP	ENST00000040877.1	1	1	hg19	c.1836G>A	CCDS1601.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_005646			29	29		211	207	1		1	1		0	0	49	0		1	8.871261e-01	0	10	0	20	0	29	211
TARBP1	6894	broad.mit.edu	37	1	234603362	234603362	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	378					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353																																						ENST00000040877.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1132-1134)tgT>tgC		TAR (HIV-1) RNA binding protein 1							76.0	77.0	77.0					1																	234603362		2203	4300	6503	SO:0001819	synonymous_variant	6894	0	0					g.chr1:234603362A>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1134T>C	chr1.hg19:g.234603362A>G		1						p.C378C	NM_005646.3	NP_005637.3	1	2	3	2.185793	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)	4	1133	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	Q9H581	Silent	SNP	ENST00000040877.1	1	1	hg19	c.1134T>C	CCDS1601.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000	NM_005646			49	48		152	151	1		1	1		0	0	28	0		1	9.394526e-01	0	3	0	14	0	49	152
IRF2BP2	359948	broad.mit.edu	37	1	234743036	234743036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_ENST00000366610.3_Silent_p.S521S|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	537	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567																																						ENST00000366609.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1609-1611)agC>agT		interferon regulatory factor 2 binding protein 2							80.0	88.0	85.0					1																	234743036		2203	4300	6503	SO:0001819	synonymous_variant	359948	1	121412	33				g.chr1:234743036G>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1611C>T	chr1.hg19:g.234743036G>A		1					IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Silent_p.S521S|RP4-781K5.2_ENST00000436039.1_RNA	p.S537S	NM_182972.2	NP_892017.2	1	2	3	2.185793	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)	2	1641	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	1	1	hg19	c.1611C>T	CCDS1602.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_182972			156	155		508	501	0		1	1		0	0	113	0		1	1	0	234	0	600	0	156	508
IRF2BP2	359948	broad.mit.edu	37	1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587																																						ENST00000366609.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1357-1359)aGg>aTg		interferon regulatory factor 2 binding protein 2							159.0	160.0	160.0					1																	234743289		2203	4300	6503	SO:0001583	missense	359948	0	0					g.chr1:234743289C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1358G>T	chr1.hg19:g.234743289C>A	ENSP00000355568:p.Arg453Met	1					IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|RP4-781K5.2_ENST00000436039.1_RNA	p.R453M	NM_182972.2	NP_892017.2	1	2	3	2.185793	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)	2	1388	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	1	1	hg19	c.1358G>T	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088416	0.76756	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34667	1.35;1.37	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.050043	0.85682	D	0.000000	T	0.61123	0.2322	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58819	-0.7569	10	0.48119	T	0.1	-10.4175	19.6878	0.95987	0.0:1.0:0.0:0.0	.	453;437	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	M	437;453	ENSP00000355569:R437M;ENSP00000355568:R453M	ENSP00000355568:R453M	R	-	2	0	0	IRF2BP2	232809912	232809912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.670000	0.90874	0.655000	0.94253	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	1	0	1		2	2	2	0		0	0	176		176	173	1	2.060000	-2.690418	1	0.170000	NM_182972			173	171		955	936	1		1	1		0	0	176	0		1	1	0	168	0	498	0	173	955
HTR1D	3352	broad.mit.edu	37	1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					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)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512																																						ENST00000374619.1	1.000000	0.940000	1	9.700000e-01	0.980000	0.989919	0.980000	0.990000																										0				9						c.(1006-1008)Gcg>Tcg		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						75.0	82.0	80.0					1																	23519707		2203	4300	6503	SO:0001583	missense	3352	0	0					g.chr1:23519707C>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1006G>T	chr1.hg19:g.23519707C>A	ENSP00000363748:p.Ala336Ser	1					HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	p.A336S	NM_000864.4	NP_000855.1	0	1	1	1.828421	P28221	5HT1D_HUMAN		1	1515	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		Missense_Mutation	SNP	ENST00000374619.1	1	1	hg19	c.1006G>T	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100115	0.20552	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.37058	1.22;1.22	5.34	5.34	0.76211	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.395173	0.26499	N	0.024039	T	0.26340	0.0643	N	0.25094	0.71	0.32500	N	0.538982	B	0.27166	0.17	B	0.39339	0.297	T	0.34925	-0.9809	10	0.10111	T	0.7	.	7.2503	0.26146	0.0:0.7326:0.174:0.0934	.	336	P28221	5HT1D_HUMAN	S	336	ENSP00000313661:A336S;ENSP00000363748:A336S	ENSP00000313661:A336S	A	-	1	0	0	HTR1D	23392294	23392294	0.973000	0.33851	0.991000	0.47740	0.946000	0.59487	2.543000	0.45752	2.518000	0.84900	0.650000	0.86243	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_000864			115	113		437	429	1		1	1		0	0	99	0		1	9.991452e-01	0	28	0	14	0	115	437
IRF2BP2	359948	broad.mit.edu	37	1	234744193	234744193	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	IRF2BP2_ENST00000366610.3_Intron|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCCCCTACCTGCTTTAGAC	0.592																																						ENST00000366609.3	1.000000	0.710000	1	9.900000e-01	0.990000	0.977104	0.990000	1.000000																										0				11						c.(1048-1050)Gtt>Att		interferon regulatory factor 2 binding protein 2							14.0	15.0	15.0					1																	234744193		2195	4291	6486	SO:0001630	splice_region_variant	359948	0	0					g.chr1:234744193C>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1048+1G>A	chr1.hg19:g.234744193C>T		1					IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Intron|RP4-781K5.2_ENST00000436039.1_RNA	p.V350I	NM_182972.2	NP_892017.2	1	2	3	2.185793	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)	1	1078	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Splice_Site	SNP	ENST00000366609.3	0	1	hg19	c.1048G>A	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085298	0.55861	.	.	ENSG00000168264	ENST00000366609	T	0.30448	1.53	4.94	4.04	0.47022	4.94	4.04	0.47022	.	0.300208	0.33346	N	0.005013	T	0.19327	0.0464	N	0.19112	0.55	0.36995	D	0.894995	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	9	.	.	.	-0.4825	12.9904	0.58616	0.0:0.9211:0.0:0.0789	.	350	Q7Z5L9	I2BP2_HUMAN	I	350	ENSP00000355568:V350I	.	V	-	1	0	0	IRF2BP2	232810816	232810816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.149000	0.64863	1.291000	0.44653	0.655000	0.94253	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	0	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-15.717000	1	0.170000	NM_182972	Missense_Mutation		9	9		74	70	0		1	0		0	0	14	0		9.938188e-01	9.999879e-01	0	0	0	226	0	9	74
ARID4B	51742	broad.mit.edu	37	1	235345456	235345456	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	926					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)			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)			TTGACCAGACATCTTTTCGAT	0.423																																						ENST00000264183.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2776-2778)gaT>gaC		AT rich interactive domain 4B (RBP1-like)							72.0	77.0	75.0					1																	235345456		2203	4300	6503	SO:0001819	synonymous_variant	51742	0	0					g.chr1:235345456A>G	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.2778T>C	chr1.hg19:g.235345456A>G		1					ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Silent_p.D926D|ARID4B_ENST00000349213.3_Silent_p.D840D	p.D926D	NM_016374.5	NP_057458.4	1	2	3	2.185793	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)	20	3275	-	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)	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	1	1	hg19	c.2778T>C	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303425	0.10678	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.63	-0.905	0.10527	5.63	-0.905	0.10527	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-20.0254	10.6774	0.45794	0.5946:0.0:0.4054:0.0	.	.	.	.	T	326	.	.	M	-	2	0	0	ARID4B	233412079	233412079	0.933000	0.31639	0.997000	0.53966	0.997000	0.91878	0.138000	0.16016	-0.170000	0.10816	0.477000	0.44152	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_016374			213	206		569	560	1		1	1		0	0	95	0		1	1	0	35	0	111	0	213	569
ARID4B	51742	broad.mit.edu	37	1	235359344	235359344	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						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)			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)			ACAAGCACTTACCTTTATTTT	0.294																																						ENST00000264183.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				8						c.e18+1		AT rich interactive domain 4B (RBP1-like)							115.0	111.0	113.0					1																	235359344		2200	4297	6497	SO:0001630	splice_region_variant	51742	0	0					g.chr1:235359344A>G	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.1926+1T>C	chr1.hg19:g.235359344A>G		1					ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site		NM_016374.5	NP_057458.4	1	2	3	2.185793	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)	18	2424	-	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)	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Splice_Site	SNP	ENST00000264183.3	1	1	hg19		CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391584	0.83011	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620;ENST00000439834	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4757	0.75478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ARID4B	233425967	233425967	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.442000	0.90317	2.197000	0.70478	0.477000	0.44152	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_016374	Intron		30	30		174	171	1		1			0	0	64	0		1	0	0	0	0	0	0	30	174
ARID4B	51742	broad.mit.edu	37	1	235359427	235359427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	615					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)			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)			TCCATTCATCGTATCTAAAAT	0.274																																						ENST00000264183.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				8						c.(1843-1845)taC>taT		AT rich interactive domain 4B (RBP1-like)							75.0	74.0	74.0					1																	235359427		2200	4293	6493	SO:0001819	synonymous_variant	51742	2	121344	32				g.chr1:235359427G>A	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.1845C>T	chr1.hg19:g.235359427G>A		1					ARID4B_ENST00000366603.2_Silent_p.Y615Y|ARID4B_ENST00000349213.3_Silent_p.Y529Y	p.Y615Y	NM_016374.5	NP_057458.4	1	2	3	2.185793	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)	18	2342	-	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)	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	1	1	hg19	c.1845C>T	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107998	0.08780	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.45	-0.742	0.11108	5.45	-0.742	0.11108	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53968	-0.8363	4	.	.	.	-14.7718	10.9931	0.47561	0.5709:0.0:0.4291:0.0	.	.	.	.	M	15	.	.	T	-	2	0	0	ARID4B	233426050	233426050	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.752000	0.26362	-0.085000	0.12573	-0.482000	0.04802	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-14.551590	1	0.170000	NM_016374			30	30		189	186	1		1	1		0	0	61	0		1	9.998637e-01	0	18	0	72	0	30	189
B3GALNT2	148789	broad.mit.edu	37	1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	404					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507																																						ENST00000366600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1210-1212)aGc>aAc		beta-1,3-N-acetylgalactosaminyltransferase 2							73.0	68.0	69.0					1																	235617568		2203	4300	6503	SO:0001583	missense	148789	0	0					g.chr1:235617568C>T	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1211G>A	chr1.hg19:g.235617568C>T	ENSP00000355559:p.Ser404Asn	1						p.S404N	NM_152490.2	NP_689703.1	1	2	3	2.185793	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)	10	1439	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	1	1	hg19	c.1211G>A	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.318292	0.95682	.	.	ENSG00000162885	ENST00000366600	T	0.55052	0.54	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.123054	0.85682	D	0.000000	T	0.71970	0.3403	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68006	-0.5523	10	0.41790	T	0.15	-18.5104	20.3398	0.98759	0.0:1.0:0.0:0.0	.	404	Q8NCR0	B3GL2_HUMAN	N	404	ENSP00000355559:S404N	ENSP00000355559:S404N	S	-	2	0	0	B3GALNT2	233684191	233684191	1.000000	0.71417	0.094000	0.20943	0.860000	0.49131	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_152490			61	60		362	347	1		1	1		0	0	85	0		1	9.978837e-01	0	21	0	36	0	61	362
B3GALNT2	148789	broad.mit.edu	37	1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	143					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448																																						ENST00000366600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(427-429)Cga>Tga		beta-1,3-N-acetylgalactosaminyltransferase 2							182.0	175.0	177.0					1																	235647766		2203	4300	6503	SO:0001587	stop_gained	148789	1	121412	38				g.chr1:235647766G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.427C>T	chr1.hg19:g.235647766G>A	ENSP00000355559:p.Arg143*	1					B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	p.R143*	NM_152490.2	NP_689703.1	1	2	3	2.185793	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)	4	655	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	0	1	hg19	c.427C>T	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.163459	0.97338	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.909002	0.09563	N	0.785247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8663	11.6206	0.51115	0.0:0.0:0.7763:0.2237	.	.	.	.	X	184;143;184	.	ENSP00000315678:R184X	R	-	1	2	2	B3GALNT2	233714389	233714389	0.992000	0.36948	0.943000	0.38184	0.574000	0.36063	2.212000	0.42835	2.582000	0.87167	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	1	0	1		2	2	2	0		0	0	213		213	211	1	2.060000	-20.000000	1	0.170000	NM_152490			245	242		743	735	1		1	1		0	0	213	0		1	9.995960e-01	0	8	0	29	0	245	743
LYST	1130	broad.mit.edu	37	1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000389793.2_Missense_Mutation_p.R3780W|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3780					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)			TGGTCCTTCCGACACCAGGCA	0.453																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(11338-11340)Cgg>Tgg		lysosomal trafficking regulator							112.0	114.0	113.0					1																	235826308		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235826308G>A	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.11338C>T	chr1.hg19:g.235826308G>A	ENSP00000374444:p.Arg3780Trp	1					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W	p.R3780W			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	53	11512	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.11338C>T	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974511	0.92919	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28666	1.6;1.6	5.87	4.94	0.65067	5.87	4.94	0.65067	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056042	0.64402	D	0.000001	T	0.41143	0.1146	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48433	-0.9036	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:0.8655:0.1345	.	3780	Q99698	LYST_HUMAN	W	3780	ENSP00000374444:R3780W;ENSP00000374443:R3780W	ENSP00000374443:R3780W	R	-	1	2	2	LYST	233892931	233892931	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.789000	0.85783	1.443000	0.47586	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000				161	160		506	499	1		1	1		0	0	134	0		1	9.903187e-01	0	4	0	21	0	161	506
LYST	1130	broad.mit.edu	37	1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2629					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)			CTAGGGTTCTCTTGGCTCATT	0.438																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(7885-7887)Gag>Aag		lysosomal trafficking regulator							167.0	136.0	146.0					1																	235909723		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235909723C>T	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.7885G>A	chr1.hg19:g.235909723C>T	ENSP00000374444:p.Glu2629Lys	1					LYST_ENST00000389793.2_Missense_Mutation_p.E2629K	p.E2629K			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	29	8059	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.7885G>A	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763587	0.69878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.70595	2.14	0.80722	D	1	P	0.38617	0.64	B	0.33960	0.173	T	0.66937	-0.5797	10	0.45353	T	0.12	.	18.7145	0.91670	0.0:1.0:0.0:0.0	.	2629	Q99698	LYST_HUMAN	K	2629	ENSP00000374444:E2629K;ENSP00000374443:E2629K	ENSP00000374443:E2629K	E	-	1	0	0	LYST	233976346	233976346	1.000000	0.71417	0.859000	0.33776	0.424000	0.31475	7.420000	0.80191	2.413000	0.81919	0.591000	0.81541	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.030102	1	0.170000				72	71		320	317	1		1	1		0	0	48	0		1	9.557654e-01	0	3	0	22	0	72	320
LYST	1130	broad.mit.edu	37	1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1533					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)			CATCCTTCTTCTATGAGTCTT	0.393																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(4597-4599)Gaa>Aaa		lysosomal trafficking regulator							100.0	90.0	93.0					1																	235952092		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235952092C>T	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.4597G>A	chr1.hg19:g.235952092C>T	ENSP00000374444:p.Glu1533Lys	1					LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR	p.E1533K			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	13	4771	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.4597G>A	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.288043	0.95517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.49	5.49	0.81192	5.49	5.49	0.81192	.	5.737730	0.00166	N	0.000009	T	0.76054	0.3934	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.52909	0.713	T	0.61691	-0.7011	10	0.48119	T	0.1	.	17.5709	0.87934	0.0:1.0:0.0:0.0	.	1533	Q99698	LYST_HUMAN	K	1533	ENSP00000374444:E1533K;ENSP00000374443:E1533K	ENSP00000374443:E1533K	E	-	1	0	0	LYST	234018715	234018715	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.646000	0.74348	2.585000	0.87301	0.563000	0.77884	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				58	57		159	158	1		1	1		0	0	48	0		1	8.677320e-01	0	4	0	8	0	58	159
LYST	1130	broad.mit.edu	37	1	235955384	235955384	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1386					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)			TCATAGTAGTATCACTTTCAA	0.323																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(4156-4158)gaT>gaC		lysosomal trafficking regulator							62.0	66.0	65.0					1																	235955384		2203	4300	6503	SO:0001819	synonymous_variant	1130	0	0					g.chr1:235955384A>G	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.4158T>C	chr1.hg19:g.235955384A>G		1					LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron	p.D1386D			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	12	4332	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	1	1	hg19	c.4158T>C	CCDS31062.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				71	71		335	328	1		1	0		0	0	73	0		1	1.466164e-01	0	1	0	3	0	71	335
LYST	1130	broad.mit.edu	37	1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1259					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)			GTGAGGTTTTCGAGTAAGTCA	0.383																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(3775-3777)Gaa>Aaa		lysosomal trafficking regulator							104.0	107.0	106.0					1																	235964335		2203	4300	6503	SO:0001583	missense	1130	3	121412	36				g.chr1:235964335C>T	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.3775G>A	chr1.hg19:g.235964335C>T	ENSP00000374444:p.Glu1259Lys	1					LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K	p.E1259K			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	9	3949	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.3775G>A	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488528	0.84854	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.15	5.86	4.95	0.65309	5.86	4.95	0.65309	.	0.382888	0.30630	N	0.009210	T	0.71634	0.3363	L	0.43152	1.355	0.42271	D	0.992054	D;P	0.89917	1.0;0.528	D;B	0.80764	0.994;0.031	T	0.73566	-0.3942	10	0.52906	T	0.07	.	13.5533	0.61745	0.0:0.928:0.0:0.072	.	1259;1259	Q99698-3;Q99698	.;LYST_HUMAN	K	1259	ENSP00000374444:E1259K;ENSP00000374443:E1259K;ENSP00000438315:E1259K	ENSP00000374443:E1259K	E	-	1	0	0	LYST	234030958	234030958	0.869000	0.29996	0.800000	0.32199	0.934000	0.57294	1.500000	0.35682	1.617000	0.50277	0.650000	0.86243	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000				67	67		389	380	1		1	0		0	0	111	0		1	1.627847e-01	0	0	0	5	0	67	389
LYST	1130	broad.mit.edu	37	1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	829					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)			CTTTCTGTTGCTCCCCTAGGC	0.378																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(2485-2487)gaG>gaT		lysosomal trafficking regulator							208.0	198.0	202.0					1																	235969949		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235969949C>A	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.2487G>T	chr1.hg19:g.235969949C>A	ENSP00000374444:p.Glu829Asp	1					LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D	p.E829D			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	6	2661	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.2487G>T	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920571	0.33908	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63744	-0.06;-0.06;1.09	5.44	-1.1	0.09872	5.44	-1.1	0.09872	.	0.686203	0.15663	N	0.250785	T	0.66567	0.2802	L	0.57536	1.79	0.30384	N	0.781676	D;B	0.76494	0.999;0.004	D;B	0.79784	0.993;0.006	T	0.60821	-0.7187	10	0.34782	T	0.22	.	3.4377	0.07452	0.1084:0.3777:0.1108:0.4031	.	829;829	Q99698-3;Q99698	.;LYST_HUMAN	D	829	ENSP00000374444:E829D;ENSP00000374443:E829D;ENSP00000438315:E829D	ENSP00000374443:E829D	E	-	3	2	2	LYST	234036572	234036572	0.003000	0.15002	0.994000	0.49952	0.993000	0.82548	-1.448000	0.02394	-0.148000	0.11234	-0.312000	0.09012	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	0		2	2	2	0		0	0	165		165	165	1	2.060000	-20.000000	1	0.170000				239	237		842	829	1		1	0		0	0	165	0		1	6.247585e-01	0	1	0	8	0	239	842
LYST	1130	broad.mit.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					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.E805K(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)			CAATTTAATTCGATTATTTGA	0.318																																						ENST00000389794.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.992446	0.990000	1.000000																										1	Substitution - Missense(1)	p.E805K(1)	large_intestine(1)	162	GRCh37	CD075459	LYST	D	rs80338647	c.(2413-2415)Gaa>Aaa		lysosomal trafficking regulator							67.0	65.0	66.0					1																	235970023		2203	4300	6503	SO:0001583	missense	1130	5	121398	36				g.chr1:235970023C>T	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.2413G>A	chr1.hg19:g.235970023C>T	ENSP00000374444:p.Glu805Lys	1					LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K	p.E805K			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	6	2587	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.2413G>A	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	0	LYST	234036646	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-13.034540	1	0.170000				39	38		371	369	0		1	0		0	0	66	0		1	2.695906e-02	0	0	0	3	0	39	371
LYST	1130	broad.mit.edu	37	1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	677					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)			CTGGGCAGGATCCCTTGAAAT	0.408																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(2029-2031)Atc>Gtc		lysosomal trafficking regulator							85.0	89.0	88.0					1																	235972089		2203	4300	6503	SO:0001583	missense	1130	6	121400	38				g.chr1:235972089T>C	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.2029A>G	chr1.hg19:g.235972089T>C	ENSP00000374444:p.Ile677Val	1					LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V	p.I677V			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	5	2203	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.2029A>G	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017098	0.35606	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68624	-0.34;-0.34;1.11	5.4	4.28	0.50868	5.4	4.28	0.50868	.	0.289633	0.33023	N	0.005373	T	0.60366	0.2263	M	0.62723	1.935	0.48511	D	0.999667	B;B	0.17038	0.005;0.02	B;B	0.16289	0.01;0.015	T	0.53479	-0.8433	10	0.19147	T	0.46	.	11.144	0.48419	0.0:0.0727:0.0:0.9273	.	677;677	Q99698-3;Q99698	.;LYST_HUMAN	V	677	ENSP00000374444:I677V;ENSP00000374443:I677V;ENSP00000438315:I677V	ENSP00000374443:I677V	I	-	1	0	0	LYST	234038712	234038712	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.213000	0.51153	0.890000	0.36211	0.533000	0.62120	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				65	63		292	282	1		1	1		0	0	61	0		1	7.527508e-01	0	3	0	11	0	65	292
LYST	1130	broad.mit.edu	37	1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	328					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)			CACTGTTCGAAAGAGCATCCT	0.448																																						ENST00000389794.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				162						c.(982-984)tTt>tGt		lysosomal trafficking regulator							46.0	44.0	45.0					1																	235973135		2203	4300	6503	SO:0001583	missense	1130	0	0					g.chr1:235973135A>C	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.983T>G	chr1.hg19:g.235973135A>C	ENSP00000374444:p.Phe328Cys	1					LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C	p.F328C			1	2	3	2.185793	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)	5	1157	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	1	1	hg19	c.983T>G	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175695	0.57692	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15017	2.46;2.46;2.46	5.49	3.12	0.35913	5.49	3.12	0.35913	.	0.194698	0.47455	D	0.000228	T	0.27241	0.0668	L	0.44542	1.39	0.32441	N	0.546732	D;D	0.76494	0.999;0.996	D;P	0.65443	0.935;0.847	T	0.26950	-1.0088	10	0.87932	D	0	.	7.258	0.26187	0.7988:0.0:0.0706:0.1306	.	328;328	Q99698-3;Q99698	.;LYST_HUMAN	C	328	ENSP00000374444:F328C;ENSP00000374443:F328C;ENSP00000438315:F328C	ENSP00000374443:F328C	F	-	2	0	0	LYST	234039758	234039758	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.269000	0.65542	0.980000	0.38523	0.533000	0.62120	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				65	62		155	153	1		1	0		0	0	34	0		1	2.120665e-01	0	0	0	3	0	65	155
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	G	A	rs373795201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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					ENST00000264187.6	1.000000	0.940000	1	9.900000e-01	0.990000	0.996535	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G1217G(1)	large_intestine(1)	66						c.(3649-3651)ggC>ggT		nidogen 1	Urokinase(DB00013)	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	SO:0001819	synonymous_variant	4811	11	121412	42				g.chr1:236141260G>A	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	chr1.hg19:g.236141260G>A		1					NID1_ENST00000366595.3_Silent_p.G1084G	p.G1217G	NM_002508.2	NP_002499.2	1	2	3	2.185793	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	20	3733	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	1	1	hg19	c.3651C>T	CCDS1608.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-3.221884	1	0.170000	NM_002508			38	37		337	324	1		1	0		0	0	79	0		1	1	0	0	0	327	0	38	337
NID1	4811	broad.mit.edu	37	1	236157030	236157030	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	890	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)			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)	CGGTGCTGCCGTGGCACTGGG	0.711																																						ENST00000264187.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2668-2670)caC>caT		nidogen 1	Urokinase(DB00013)						25.0	25.0	25.0					1																	236157030		2202	4299	6501	SO:0001819	synonymous_variant	4811	0	0					g.chr1:236157030G>A	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.2670C>T	chr1.hg19:g.236157030G>A		1					NID1_ENST00000366595.3_Silent_p.H757H	p.H890H	NM_002508.2	NP_002499.2	1	2	3	2.185793	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	13	2752	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	1	1	hg19	c.2670C>T	CCDS1608.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_002508			47	47		125	124	1		1	0		0	0	16	0		1	1	0	1	0	106	0	47	125
NID1	4811	broad.mit.edu	37	1	236157147	236157147	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	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)			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)	GTTCTCGCTCGTGCTGGCACC	0.627																																						ENST00000264187.6	1.000000	0.460000	1	6.200000e-01	0.820000	0.814421	0.820000	1.000000																										0				66						c.(2551-2553)caC>caT		nidogen 1	Urokinase(DB00013)						28.0	29.0	29.0					1																	236157147		2203	4300	6503	SO:0001819	synonymous_variant	4811	1	121394	28				g.chr1:236157147G>A	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.2553C>T	chr1.hg19:g.236157147G>A		1					NID1_ENST00000366595.3_Silent_p.H718H	p.H851H	NM_002508.2	NP_002499.2	1	2	3	2.185793	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	13	2635	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	1	1	hg19	c.2553C>T	CCDS1608.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-16.725530	1	0.170000	NM_002508			13	13		192	191	0		1	0		0	0	24	0		9.995725e-01	9.994620e-01	0	0	0	197	0	13	192
NID1	4811	broad.mit.edu	37	1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					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)			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)	TGCCCACATCCTCCAGGCCCA	0.607																																						ENST00000264187.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(916-918)gaG>gaT		nidogen 1	Urokinase(DB00013)						149.0	132.0	138.0					1																	236205427		2203	4300	6503	SO:0001583	missense	4811	0	0					g.chr1:236205427C>A	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.918G>T	chr1.hg19:g.236205427C>A	ENSP00000264187:p.Glu306Asp	1					NID1_ENST00000366595.3_Missense_Mutation_p.E306D	p.E306D	NM_002508.2	NP_002499.2	1	2	3	2.185793	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	4	1000	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	1	1	hg19	c.918G>T	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	1.974	-0.435723	0.04636	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88277	-1.7;-2.36	5.81	0.73	0.18271	5.81	0.73	0.18271	.	1.175610	0.05899	N	0.629702	T	0.80287	0.4595	N	0.25890	0.77	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.61317	-0.7087	10	0.22109	T	0.4	.	5.3998	0.16288	0.0:0.507:0.1321:0.361	.	306;306	P14543-2;P14543	.;NID1_HUMAN	D	306	ENSP00000264187:E306D;ENSP00000355554:E306D	ENSP00000264187:E306D	E	-	3	2	2	NID1	234272050	234272050	0.002000	0.14202	0.028000	0.17463	0.143000	0.21401	-0.349000	0.07731	-0.103000	0.12175	0.563000	0.77884	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-7.209899	1	0.170000	NM_002508			223	218		666	652	1		1	0		0	0	145	0		1	1	0	0	0	215	0	223	666
NID1	4811	broad.mit.edu	37	1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A	rs200351205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	143	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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)			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)	AGAGATCTCCGGGAACCCTCT	0.577																																						ENST00000264187.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(427-429)cCg>cTg		nidogen 1	Urokinase(DB00013)	G	LEU/PRO	0,4406		0,0,2203	59.0	61.0	60.0		428	3.9	0.9	1		60	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID1	NM_002508.2	98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	143/1248	236212087	4,13002	2203	4300	6503	SO:0001583	missense	4811	21	121412	43				g.chr1:236212087G>A	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.428C>T	chr1.hg19:g.236212087G>A	ENSP00000264187:p.Pro143Leu	1					NID1_ENST00000366595.3_Missense_Mutation_p.P143L	p.P143L	NM_002508.2	NP_002499.2	1	2	3	2.185793	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	2	510	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	1	1	hg19	c.428C>T	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257823	0.59321	0.0	4.65E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.23348	1.91;1.91	4.81	3.9	0.45041	4.81	3.9	0.45041	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.817	T	0.57991	-0.7715	10	0.66056	D	0.02	.	13.0868	0.59146	0.0774:0.0:0.9226:0.0	.	143;143	P14543-2;P14543	.;NID1_HUMAN	L	143	ENSP00000264187:P143L;ENSP00000355554:P143L	ENSP00000264187:P143L	P	-	2	0	0	NID1	234278710	234278710	1.000000	0.71417	0.862000	0.33874	0.736000	0.42039	6.526000	0.73799	1.255000	0.44051	0.655000	0.94253	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-6.078284	1	0.170000	NM_002508			84	82		219	218	1		1	0		0	0	52	0		1	1	0	0	0	313	0	84	219
GPR137B	7107	broad.mit.edu	37	1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	233						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				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)			GGGCTCCTCCGTGTGTCAAGT	0.552																																						ENST00000366592.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(697-699)Gtg>Atg		G protein-coupled receptor 137B							223.0	188.0	200.0					1																	236343188		2203	4300	6503	SO:0001583	missense	7107	5	121376	50				g.chr1:236343188G>A	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.697G>A	chr1.hg19:g.236343188G>A	ENSP00000355551:p.Val233Met	1					GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	p.V233M	NM_003272.3	NP_003263.1	1	2	3	2.185793	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	4	788	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	1	1	hg19	c.697G>A	CCDS1609.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635166	0.67130	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.52526	0.66;1.99;0.74	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.055961	0.64402	D	0.000001	T	0.70168	0.3193	M	0.72118	2.19	0.43043	D	0.994631	B;D	0.89917	0.063;1.0	B;D	0.87578	0.019;0.998	T	0.72077	-0.4399	10	0.72032	D	0.01	-15.3153	19.8119	0.96549	0.0:0.0:1.0:0.0	.	96;233	Q5TAF1;O60478	.;G137B_HUMAN	M	233;142;232;15	ENSP00000355551:V233M;ENSP00000355550:V142M;ENSP00000401841:V15M	ENSP00000355550:V142M	V	+	1	0	0	GPR137B	234409811	234409811	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.482000	0.81143	2.756000	0.94617	0.563000	0.77884	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_003272			193	190		625	614	1		1	1		0	0	130	0		1	1	0	38	0	162	0	193	625
GPR137B	7107	broad.mit.edu	37	1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	318						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				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)			GTTAGAAATCCTACAAAGGAC	0.363																																						ENST00000366592.3	1.000000	0.610000	1	7.600000e-01	0.940000	0.903412	0.940000	1.000000																										0				16						c.(952-954)cCt>cAt		G protein-coupled receptor 137B							117.0	114.0	115.0					1																	236347193		2203	4300	6503	SO:0001583	missense	7107	0	0					g.chr1:236347193C>A	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.953C>A	chr1.hg19:g.236347193C>A	ENSP00000355551:p.Pro318His	1					GPR137B_ENST00000477559.1_3'UTR	p.P318H	NM_003272.3	NP_003263.1	1	2	3	2.185793	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	5	1044	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	1	1	hg19	c.953C>A	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748292|3.748292	0.69533|0.69533	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54866	.|0.55;0.7	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.110179	.|0.64402	.|D	.|0.000006	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.975;0.996	.|P;P	.|0.60345	.|0.81;0.873	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.87932	.|D	.|0	-3.3371|-3.3371	19.3356|19.3356	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;318	.|Q5TAF1;O60478	.|.;G137B_HUMAN	I|H	182|318;317;100	.|ENSP00000355551:P318H;ENSP00000401841:P100H	.|ENSP00000355551:P318H	L|P	+|+	1|2	2|0	2|0	GPR137B|GPR137B	234413816|234413816	234413816|234413816	0.999000|0.999000	0.42202|0.42202	0.016000|0.016000	0.15963|0.15963	0.723000|0.723000	0.41478|0.41478	7.345000|7.345000	0.79337|0.79337	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	CTA|CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.806923	1	0.170000	NM_003272			22	19		277	275	0		1	1		0	0	48	0		9.999987e-01	9.999002e-01	0	20	0	169	0	22	277
ERO1LB	56605	broad.mit.edu	37	1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	312					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)			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)	TGACAAAGCTCGAAGCTCAAT	0.393																																						ENST00000354619.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(934-936)cGa>cAa		ERO1-like beta (S. cerevisiae)	Flavin adenine dinucleotide(DB03147)						97.0	99.0	98.0					1																	236389686		2203	4300	6503	SO:0001583	missense	56605	1	121412	37				g.chr1:236389686C>T	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.935G>A	chr1.hg19:g.236389686C>T	ENSP00000346635:p.Arg312Gln	1						p.R312Q	NM_019891.3	NP_063944.3	1	2	3	2.185793	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	12	1136	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	1	1	hg19	c.935G>A	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006348	0.93287	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.53423	0.62;0.62	5.53	4.6	0.57074	5.53	4.6	0.57074	.	0.060072	0.64402	D	0.000002	T	0.69869	0.3159	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73344	-0.4012	10	0.54805	T	0.06	-11.3801	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	312	Q86YB8	ERO1B_HUMAN	Q	312;37	ENSP00000346635:R312Q;ENSP00000264181:R37Q	ENSP00000264181:R37Q	R	-	2	0	0	ERO1LB	234456309	234456309	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-10.256070	1	0.170000	NM_019891			121	117		265	259	1		1	1		0	0	76	0		1	9.999999e-01	0	8	0	46	0	121	265
ERO1LB	56605	broad.mit.edu	37	1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					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)			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)	ATAAACAGATCGAGGCCTGAA	0.343																																						ENST00000354619.5	0.680000	0.180000	5.300000e-01	2.600000e-01	0.380000	0.405484	0.380000	0.360000																										0				23						c.(631-633)cGa>cAa		ERO1-like beta (S. cerevisiae)	Flavin adenine dinucleotide(DB03147)						67.0	69.0	68.0					1																	236399130		2202	4300	6502	SO:0001583	missense	56605	0	0					g.chr1:236399130C>T	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.632G>A	chr1.hg19:g.236399130C>T	ENSP00000346635:p.Arg211Gln	1						p.R211Q	NM_019891.3	NP_063944.3	1	2	3	2.185793	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	8	833	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	1	1	hg19	c.632G>A	CCDS31064.1	0	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474928	0.43942	.	.	ENSG00000086619	ENST00000354619	T	0.41758	0.99	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05306	-0.075	0.80722	D	1	B	0.22080	0.064	B	0.20955	0.032	T	0.16660	-1.0395	10	0.06236	T	0.91	-11.014	20.2366	0.98359	0.0:1.0:0.0:0.0	.	211	Q86YB8	ERO1B_HUMAN	Q	211	ENSP00000346635:R211Q	ENSP00000346635:R211Q	R	-	2	0	0	ERO1LB	234465753	234465753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.154520	1	0.170000	NM_019891			8	8		270	266	0		1	0		0	0	41	0		9.890180e-01	5.778333e-01	0	0	0	63	0	8	270
HNRNPR	10236	broad.mit.edu	37	1	23650226	23650226	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000374612.1	-	6	622		c.e6-1		HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000478691.1_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTACAAATACCTGAAATAAAA	0.398																																						ENST00000374612.1	0.990000	0.590000	9.500000e-01	7.100000e-01	0.840000	0.836687	0.840000	0.900000																										0				19						c.e6-1		heterogeneous nuclear ribonucleoprotein R							63.0	68.0	66.0					1																	23650226		2203	4300	6503	SO:0001630	splice_region_variant	10236	0	0					g.chr1:23650226C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.499-1G>T	chr1.hg19:g.23650226C>A		1					HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000478691.1_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Splice_Site		NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	0	1	1	1.828421	O43390	HNRPR_HUMAN		6	622	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Splice_Site	SNP	ENST00000374612.1	1	1	hg19		CCDS232.1	0	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771377	0.69992	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	.	.	.	5.14	4.22	0.49857	5.14	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5575	0.56263	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	.	HNRNPR	23522813	23522813	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.684000	0.84104	1.298000	0.44778	0.561000	0.74099	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.017764	1	0.170000	NM_005826	Intron		26	26		277	272	0		1	0		0	0	56	0		9.999999e-01	8.100289e-03	0	0	0	2	0	26	277
ERO1LB	56605	broad.mit.edu	37	1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	111					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)			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)	GAATGCCCAGCTTTTATTCCA	0.323																																						ENST00000354619.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(331-333)Gct>Act		ERO1-like beta (S. cerevisiae)	Flavin adenine dinucleotide(DB03147)						103.0	104.0	104.0					1																	236415367		2203	4300	6503	SO:0001583	missense	56605	0	0					g.chr1:236415367C>T	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.331G>A	chr1.hg19:g.236415367C>T	ENSP00000346635:p.Ala111Thr	1					ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	p.A111T	NM_019891.3	NP_063944.3	1	2	3	2.185793	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	4	532	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	1	1	hg19	c.331G>A	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925860	0.73213	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.82081	-1.57;0.93	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.054456	0.85682	D	0.000000	D	0.83801	0.5333	L	0.41824	1.3	0.49130	D	0.999751	P;B	0.52842	0.956;0.1	P;B	0.53006	0.715;0.155	T	0.80118	-0.1516	10	0.22706	T	0.39	-16.869	18.7696	0.91885	0.0:1.0:0.0:0.0	.	111;111	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	111	ENSP00000346635:A111T;ENSP00000377574:A111T	ENSP00000377574:A111T	A	-	1	0	0	ERO1LB	234481990	234481990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.729000	0.93468	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	0	0	0		14	4	2	1		1	1	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_019891			78	76		250	245	1		1	1		1	0	87	0		1	9.997531e-01	0	8	0	52	0	78	250
HEATR1	55127	broad.mit.edu	37	1	236715314	236715314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236715314C>T	ENST00000366582.3	-	44	6445	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T	LGALS8_ENST00000526589.1_3'UTR|RP11-385F5.4_ENST00000433131.1_RNA|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2111					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)			ATCAACTCTGCTAAGAAAGGA	0.358																																						ENST00000366582.3	0.370000	0.110000	3.000000e-01	1.600000e-01	0.220000	0.235551	0.220000	0.210000																										0				87						c.(6331-6333)Gca>Aca		HEAT repeat containing 1							146.0	148.0	147.0					1																	236715314		2203	4300	6503	SO:0001583	missense	55127	0	0					g.chr1:236715314C>T	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.6331G>A	chr1.hg19:g.236715314C>T	ENSP00000355541:p.Ala2111Thr	1					RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	p.A2111T	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	44	6445	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	0	1	hg19	c.6331G>A	CCDS31066.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.151273	0.94645	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64618	-0.11;-0.11	4.9	4.9	0.64082	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.163822	0.52532	D	0.000061	T	0.80597	0.4653	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.75020	0.898;0.985	T	0.83237	-0.0060	10	0.87932	D	0	.	18.6314	0.91361	0.0:1.0:0.0:0.0	.	2030;2111	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	2111;2030	ENSP00000355541:A2111T;ENSP00000355540:A2030T	ENSP00000355540:A2030T	A	-	1	0	0	HEATR1	234781937	234781937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.700000	0.92200	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	0	0		2	2	2	0		0	0	131		131	130	1	2.060000	-3.233856	1	0.170000	XM_375853			11	12		634	632	0		1	1		0	0	131	0		9.983352e-01	8.816821e-01	0	4	0	216	0	11	634
HEATR1	55127	broad.mit.edu	37	1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	931					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)			AACTTCTTTTACGGGGCTTCC	0.373																																						ENST00000366582.3	0.880000	0.410000	7.600000e-01	5.100000e-01	0.620000	0.640108	0.620000	0.630000																										0				87						c.(2791-2793)gTa>gCa		HEAT repeat containing 1							64.0	69.0	67.0					1																	236740213		2203	4300	6503	SO:0001583	missense	55127	0	0					g.chr1:236740213A>G	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.2792T>C	chr1.hg19:g.236740213A>G	ENSP00000355541:p.Val931Ala	1					HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	p.V931A	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	21	2906	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	1	1	hg19	c.2792T>C	CCDS31066.1	0	.	.	.	.	.	.	.	.	.	.	A	8.980	0.975030	0.18736	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.13	5.36	4.24	0.50183	5.36	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (2);	0.567431	0.18886	N	0.128438	T	0.48003	0.1476	L	0.46157	1.445	0.50813	D	0.999894	B;P	0.45768	0.163;0.866	B;B	0.33254	0.037;0.16	T	0.38972	-0.9636	10	0.28530	T	0.3	.	10.9493	0.47319	0.9265:0.0:0.0735:0.0	.	931;931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	931	ENSP00000355541:V931A;ENSP00000355540:V931A	ENSP00000355540:V931A	V	-	2	0	0	HEATR1	234806836	234806836	0.825000	0.29262	0.015000	0.15790	0.733000	0.41908	5.962000	0.70364	0.891000	0.36235	0.379000	0.24179	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	XM_375853			25	25		488	482	1		1	1		0	0	75	0		9.999998e-01	7.487138e-01	0	9	0	45	0	25	488
HEATR1	55127	broad.mit.edu	37	1	236744595	236744595	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	894					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)			AGCCCACATAAAGAGCTTGAG	0.393																																						ENST00000366582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(2680-2682)ctT>ctG		HEAT repeat containing 1							168.0	161.0	164.0					1																	236744595		2203	4300	6503	SO:0001819	synonymous_variant	55127	0	0					g.chr1:236744595A>C	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.2682T>G	chr1.hg19:g.236744595A>C		1					HEATR1_ENST00000366581.2_Silent_p.L894L	p.L894L	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	20	2796	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	1	1	hg19	c.2682T>G	CCDS31066.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	XM_375853			214	209		542	530	1		1	1		0	0	145	0		1	9.999999e-01	0	39	0	21	0	214	542
HEATR1	55127	broad.mit.edu	37	1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	726					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)			GACTCTTATCGCAAATGGAAA	0.398																																						ENST00000366582.3	0.900000	0.400000	7.700000e-01	5.000000e-01	0.620000	0.641680	0.620000	0.610000																										0				87						c.(2176-2178)gCg>gTg		HEAT repeat containing 1							105.0	105.0	105.0					1																	236748389		2203	4300	6503	SO:0001583	missense	55127	0	0					g.chr1:236748389G>A	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.2177C>T	chr1.hg19:g.236748389G>A	ENSP00000355541:p.Ala726Val	1					HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	p.A726V	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	17	2291	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	1	1	hg19	c.2177C>T	CCDS31066.1	0	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277165	0.59758	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	0.01;-0.23	6.08	6.08	0.98989	6.08	6.08	0.98989	Armadillo-type fold (1);	0.102560	0.64402	D	0.000003	T	0.63058	0.2479	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	B	0.25614	0.062	T	0.68025	-0.5518	10	0.72032	D	0.01	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	726	Q9H583	HEAT1_HUMAN	V	726	ENSP00000355541:A726V;ENSP00000355540:A726V	ENSP00000355540:A726V	A	-	2	0	0	HEATR1	234815012	234815012	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	4.452000	0.60054	2.894000	0.99253	0.591000	0.81541	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-4.641522	1	0.170000	XM_375853			21	20		411	399	0		1	1		0	0	76	0		9.999968e-01	7.648072e-01	0	3	0	53	0	21	411
HEATR1	55127	broad.mit.edu	37	1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					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)			CTTAATAGAGGGTGCAGGGAG	0.308																																						ENST00000366582.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				87						c.(1903-1905)Cct>Act		HEAT repeat containing 1							40.0	42.0	41.0					1																	236749565		2202	4300	6502	SO:0001583	missense	55127	0	0					g.chr1:236749565G>T	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.1903C>A	chr1.hg19:g.236749565G>T	ENSP00000355541:p.Pro635Thr	1					HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	p.P635T	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	15	2017	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	1	1	hg19	c.1903C>A	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615465	0.66672	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62105	0.05;0.05	5.42	4.51	0.55191	5.42	4.51	0.55191	Armadillo-type fold (1);	0.103033	0.64402	D	0.000002	T	0.75443	0.3850	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74890	-0.3510	10	0.35671	T	0.21	.	14.2206	0.65823	0.0721:0.0:0.9279:0.0	.	635	Q9H583	HEAT1_HUMAN	T	635	ENSP00000355541:P635T;ENSP00000355540:P635T	ENSP00000355540:P635T	P	-	1	0	0	HEATR1	234816188	234816188	1.000000	0.71417	0.504000	0.27639	0.963000	0.63663	5.780000	0.68956	1.423000	0.47198	0.563000	0.77884	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.088145	1	0.170000	XM_375853			40	40		222	216	1		1	1		0	0	43	0		1	9.441603e-01	0	2	0	27	0	40	222
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	415					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)			CACTTTATTAGAATCCATTTC	0.289																																						ENST00000366582.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999705	0.990000	1.000000																										0				87						c.(1243-1245)tCt>tAt		HEAT repeat containing 1							61.0	53.0	56.0					1																	236755883		2197	4289	6486	SO:0001583	missense	55127	0	0					g.chr1:236755883G>T	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.1244C>A	chr1.hg19:g.236755883G>T	ENSP00000355541:p.Ser415Tyr	1					HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	p.S415Y	NM_018072.5	NP_060542.4	1	2	3	2.185793	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)	10	1358	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	1	1	hg19	c.1244C>A	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512596	0.27123	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68624	3.36;-0.34	5.25	5.25	0.73442	5.25	5.25	0.73442	Armadillo-type fold (1);	0.651120	0.15867	N	0.240715	T	0.65186	0.2667	L	0.50333	1.59	0.80722	D	1	P	0.45474	0.859	B	0.40101	0.319	T	0.70547	-0.4842	10	0.62326	D	0.03	.	18.8399	0.92180	0.0:0.0:1.0:0.0	.	415	Q9H583	HEAT1_HUMAN	Y	415	ENSP00000355541:S415Y;ENSP00000355540:S415Y	ENSP00000355540:S415Y	S	-	2	0	0	HEATR1	234822506	234822506	0.641000	0.27251	0.057000	0.19452	0.292000	0.27327	4.352000	0.59404	2.458000	0.83093	0.650000	0.86243	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.956590	1	0.170000	XM_375853			11	10		46	46	1		1	1		0	0	19	0		9.987747e-01	9.518855e-01	0	18	0	7	0	11	46
ACTN2	88	broad.mit.edu	37	1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	32	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692																																						ENST00000366578.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(94-96)Ctg>Atg		actinin, alpha 2							45.0	40.0	42.0					1																	236850067		2203	4300	6503	SO:0001583	missense	88	0	0					g.chr1:236850067C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.94C>A	chr1.hg19:g.236850067C>A	ENSP00000355537:p.Leu32Met	1					ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	p.L32M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	1	2	3	2.185793	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)	1	260	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	1	1	hg19	c.94C>A	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475923	0.63737	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62498	0.02;0.02	3.81	3.81	0.43845	3.81	3.81	0.43845	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.75451	0.3851	M	0.86805	2.84	0.80722	D	1	D;P	0.54964	0.969;0.799	P;B	0.59595	0.86;0.226	T	0.78523	-0.2171	10	0.87932	D	0	.	7.4471	0.27217	0.0:0.8051:0.0:0.1949	.	32;32	B2RCS5;P35609	.;ACTN2_HUMAN	M	32	ENSP00000443495:L32M;ENSP00000355537:L32M	ENSP00000355537:L32M	L	+	1	2	2	ACTN2	234916690	234916690	0.868000	0.29978	0.996000	0.52242	0.932000	0.56968	1.658000	0.37376	1.944000	0.56390	0.462000	0.41574	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	0		2	2	2	0		0	0	24		24	21	1	2.060000	-20.000000	1	0.170000	NM_001103			37	37		142	138	0		1			0	0	24	0		1	0	0	0	0	0	0	37	142
ACTN2	88	broad.mit.edu	37	1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	35	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701																																						ENST00000366578.4	1.000000	0.730000	1	9.500000e-01	0.990000	0.974053	0.990000	1.000000																										0				86						c.(103-105)Gcc>Acc		actinin, alpha 2							42.0	37.0	38.0					1																	236850076		2203	4300	6503	SO:0001583	missense	88	0	0					g.chr1:236850076G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.103G>A	chr1.hg19:g.236850076G>A	ENSP00000355537:p.Ala35Thr	1					ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	p.A35T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	1	2	3	2.185793	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)	1	269	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	1	1	hg19	c.103G>A	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573356	0.86542	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59364	0.27;0.27	3.6	2.66	0.31614	3.6	2.66	0.31614	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55743	1.74	0.80722	D	1	B;B	0.27559	0.181;0.03	B;B	0.35470	0.203;0.02	T	0.58629	-0.7603	10	0.87932	D	0	.	12.0331	0.53410	0.0:0.0:0.8257:0.1743	.	35;35	B2RCS5;P35609	.;ACTN2_HUMAN	T	35	ENSP00000443495:A35T;ENSP00000355537:A35T	ENSP00000355537:A35T	A	+	1	0	0	ACTN2	234916699	234916699	1.000000	0.71417	0.991000	0.47740	0.797000	0.45037	8.721000	0.91446	0.670000	0.31165	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	0		2	2	2	0		0	0	23		23	20	1	2.060000	-19.999470	1	0.170000	NM_001103			16	16		153	148	0		1			0	0	23	0		9.999331e-01	0	0	0	0	0	0	16	153
ACTN2	88	broad.mit.edu	37	1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	353					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612																																						ENST00000366578.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1057-1059)Cgg>Tgg		actinin, alpha 2							128.0	100.0	109.0					1																	236902782		2203	4300	6503	SO:0001583	missense	88	2	121412	31				g.chr1:236902782C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1057C>T	chr1.hg19:g.236902782C>T	ENSP00000355537:p.Arg353Trp	1					ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	1	2	3	2.185793	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)	10	1223	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	1	1	hg19	c.1057C>T	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019319	0.75275	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70045	-0.45;-0.45	5.51	-1.38	0.09027	5.51	-1.38	0.09027	.	0.049402	0.64402	D	0.000001	D	0.84678	0.5525	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.989;0.916;0.996	D	0.89354	0.3663	10	0.87932	D	0	.	17.1506	0.86777	0.7646:0.2354:0.0:0.0	.	353;123;353	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	W	353;353;122	ENSP00000443495:R353W;ENSP00000355537:R353W	ENSP00000355537:R353W	R	+	1	2	2	ACTN2	234969405	234969405	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-1.101000	0.03336	0.089000	0.17243	0.555000	0.69702	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001103			55	55		271	261	1		1			0	0	69	0		1	0	0	0	0	0	0	55	271
ACTN2	88	broad.mit.edu	37	1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N|ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	600					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582																																						ENST00000366578.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1798-1800)aGc>aAc		actinin, alpha 2							113.0	95.0	101.0					1																	236914912		2203	4300	6503	SO:0001583	missense	88	0	0					g.chr1:236914912G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1799G>A	chr1.hg19:g.236914912G>A	ENSP00000355537:p.Ser600Asn	1					ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	p.S600N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	1	2	3	2.185793	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)	15	1965	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	1	1	hg19	c.1799G>A	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255226	0.80135	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.250491	0.52532	D	0.000075	T	0.65873	0.2733	L	0.54323	1.7	0.58432	D	0.999996	B;B;B;P	0.45531	0.074;0.127;0.217;0.86	B;B;B;D	0.67382	0.31;0.386;0.405;0.951	T	0.68652	-0.5352	10	0.87932	D	0	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	385;600;370;600	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	600;600;94;369	ENSP00000443495:S600N;ENSP00000355537:S600N;ENSP00000438384:S94N	ENSP00000355537:S600N	S	+	2	0	0	ACTN2	234981535	234981535	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.701000	0.47094	2.265000	0.75225	0.563000	0.77884	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_001103			49	49		270	264	1		1	0		0	0	62	0		1	0	0	0	0	1	0	49	270
MTR	4548	broad.mit.edu	37	1	237013811	237013811	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	561	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348																																						ENST00000366577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1681-1683)acA>acG		5-methyltetrahydrofolate-homocysteine methyltransferase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119.0	108.0	112.0					1																	237013811		2203	4300	6503	SO:0001819	synonymous_variant	4548	1	121412	30				g.chr1:237013811A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1683A>G	chr1.hg19:g.237013811A>G		1					MTR_ENST00000535889.1_Silent_p.T561T	p.T561T	NM_000254.2	NP_000245.2	1	2	3	2.185793	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	16	2077	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	1	1	hg19	c.1683A>G	CCDS1614.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_000254			56	56		314	309	1		1	1		0	0	52	0		1	9.993084e-01	0	12	0	51	0	56	314
MTR	4548	broad.mit.edu	37	1	237054561	237054561	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1046	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552																																						ENST00000366577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3136-3138)Ctg>Ttg		5-methyltetrahydrofolate-homocysteine methyltransferase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119.0	117.0	117.0					1																	237054561		2203	4300	6503	SO:0001819	synonymous_variant	4548	0	0					g.chr1:237054561C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3136C>T	chr1.hg19:g.237054561C>T		1					MTR_ENST00000535889.1_Silent_p.L995L	p.L1046L	NM_000254.2	NP_000245.2	1	2	3	2.185793	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	29	3530	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	1	1	hg19	c.3136C>T	CCDS1614.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	1		2	2	2	0		0	0	158		158	155	1	2.060000	-5.235044	1	0.170000	NM_000254			188	183		607	594	0		1	1		0	0	158	0		1	1	0	17	0	85	0	188	607
ASAP3	55616	broad.mit.edu	37	1	23758362	23758362	+	Silent	SNP	C	C	T	rs375573559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	791					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)			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						TGCCCAGGCTCTCAGGGGTCT	0.552																																						ENST00000336689.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983901	0.980000	0.990000																										0				24						c.(2371-2373)gaG>gaA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3		C	,	1,4405	2.1+/-5.4	0,1,2202	40.0	47.0	45.0		2346,2373	3.1	0.7	1		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASAP3	NM_001143778.1,NM_017707.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	782/895,791/904	23758362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55616	0	0					g.chr1:23758362C>T	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.2373G>A	chr1.hg19:g.23758362C>T		1					ASAP3_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E	p.E791E	NM_017707.3	NP_060177.2	0	1	1	1.828421	Q8TDY4	ASAP3_HUMAN		23	2417	-			B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	1	1	hg19	c.2373G>A	CCDS235.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.762257	1	0.170000	NM_017707			78	77		300	293	1		1	1		0	0	73	0		1	9.943168e-01	0	4	0	29	0	78	300
ASAP3	55616	broad.mit.edu	37	1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	636					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)			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						TTGAGGCAGTCGGGCTGGTTG	0.582																																						ENST00000336689.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.977960	0.980000	0.990000																										0				24						c.(1906-1908)Gac>Aac		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							128.0	112.0	117.0					1																	23760792		2203	4300	6503	SO:0001583	missense	55616	2	121412	36				g.chr1:23760792C>T	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.1906G>A	chr1.hg19:g.23760792C>T	ENSP00000338769:p.Asp636Asn	1					ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N	p.D636N	NM_017707.3	NP_060177.2	0	1	1	1.828421	Q8TDY4	ASAP3_HUMAN		19	1950	-			B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	1	1	hg19	c.1906G>A	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291951	0.40594	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.66099	-0.19;-0.19;-0.19	4.0	3.08	0.35506	4.0	3.08	0.35506	Ankyrin repeat-containing domain (4);	0.213938	0.37623	N	0.002014	T	0.45397	0.1340	L	0.28556	0.865	0.39951	D	0.97454	P;P;B;B	0.40066	0.701;0.683;0.379;0.407	B;B;B;B	0.36378	0.076;0.16;0.223;0.151	T	0.49390	-0.8945	10	0.62326	D	0.03	.	8.3007	0.32012	0.0:0.7986:0.0:0.2014	.	627;505;159;636	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	N	159;140;636;627	ENSP00000436150:D140N;ENSP00000338769:D636N;ENSP00000408826:D627N	ENSP00000338769:D636N	D	-	1	0	0	ASAP3	23633379	23633379	0.997000	0.39634	0.980000	0.43619	0.250000	0.25880	3.464000	0.53057	1.027000	0.39758	0.297000	0.19635	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	1	0	1		2	2	2	0		0	0	95		95	92	1	2.060000	-3.185098	1	0.170000	NM_017707			69	67		330	322	1		1	1		0	0	95	0		1	9.632094e-01	0	5	0	23	0	69	330
MTR	4548	broad.mit.edu	37	1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1075	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572																																						ENST00000366577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3223-3225)Agc>Ggc		5-methyltetrahydrofolate-homocysteine methyltransferase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						106.0	90.0	96.0					1																	237057675		2203	4300	6503	SO:0001583	missense	4548	0	0					g.chr1:237057675A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3223A>G	chr1.hg19:g.237057675A>G	ENSP00000355536:p.Ser1075Gly	1					MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	p.S1075G	NM_000254.2	NP_000245.2	1	2	3	2.185793	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	30	3617	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	1	1	hg19	c.3223A>G	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574732	0.13623	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.31;-0.31;-1.67	5.47	4.27	0.50696	5.47	4.27	0.50696	Vitamin B12-dependent methionine synthase, activation domain (3);	0.270973	0.39544	N	0.001330	T	0.71550	0.3353	L	0.29908	0.895	0.22896	N	0.998596	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59621	-0.7420	10	0.38643	T	0.18	-21.5817	8.9147	0.35574	0.6747:0.0:0.0:0.3253	.	1075;1024;1075	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	G	929;1075;1024;629	ENSP00000355536:S1075G;ENSP00000441845:S1024G;ENSP00000355535:S629G	ENSP00000355535:S629G	S	+	1	0	0	MTR	235124298	235124298	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.676000	0.54612	2.205000	0.71048	0.533000	0.62120	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	1		2	2	2	0		0	0	55		55	56	1	2.060000	-20.000000	1	0.170000	NM_000254			89	87		253	247	1		1	1		0	0	55	0		1	1	0	17	0	57	0	89	253
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Silent	SNP	C	C	A	rs371303783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000542537.1_Silent_p.R1070R|RYR2_ENST00000360064.6_Silent_p.R1084R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1086	4 X approximate repeats.|B30.2/SPRY 2. {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)			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)			GGAAAGGTTCCGAATCTTCCG	0.542																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(3256-3258)Cga>Aga		ryanodine receptor 2 (cardiac)							76.0	77.0	77.0					1																	237729908		1909	4134	6043	SO:0001819	synonymous_variant	6262	0	0					g.chr1:237729908C>A	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.3256C>A	chr1.hg19:g.237729908C>A		1					RYR2_ENST00000542537.1_Silent_p.R1070R|RYR2_ENST00000360064.6_Silent_p.R1084R	p.R1086R	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	28	3573	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	1	1	hg19	c.3256C>A	CCDS55691.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-8.974475	1	0.170000	NM_001035			99	95		222	216	0		1			0	0	69	0		1	0	0	0	0	0	0	99	222
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D|RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	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.A1323D(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)			CTCCCTGGGGCTGGCCTTTTT	0.522																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A1323D(1)	lung(1)	586						c.(3973-3975)gCt>gAt		ryanodine receptor 2 (cardiac)							103.0	101.0	101.0					1																	237754106		1921	4130	6051	SO:0001583	missense	6262	0	0					g.chr1:237754106C>A	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.3974C>A	chr1.hg19:g.237754106C>A	ENSP00000355533:p.Ala1325Asp	1					RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D|RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D	p.A1325D	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	31	4291	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.3974C>A	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	0	RYR2	235820729	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	119		119	116	1	2.060000	-20.000000	1	0.170000	NM_001035			181	178		457	451	1		1	0		0	0	119	0		1	1.964814e-01	0	0	0	3	0	181	457
RYR2	6262	broad.mit.edu	37	1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F|RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1638	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)			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)			TTCTACAGATCTGTTGACATC	0.418																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				586						c.(4912-4914)tCt>tTt		ryanodine receptor 2 (cardiac)							48.0	45.0	46.0					1																	237777341		1866	4110	5976	SO:0001583	missense	6262	0	0					g.chr1:237777341C>T	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.4913C>T	chr1.hg19:g.237777341C>T	ENSP00000355533:p.Ser1638Phe	1					RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F|RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F	p.S1638F	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	37	5230	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.4913C>T	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953784	0.53293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.14;-4.17	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.092047	0.44285	D	0.000463	D	0.92606	0.7651	L	0.32530	0.975	0.80722	D	1	P	0.37864	0.61	B	0.31812	0.136	D	0.93184	0.6577	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8586:0.1414:0.0	.	1638	Q92736	RYR2_HUMAN	F	1638;1636;1622	ENSP00000355533:S1638F;ENSP00000353174:S1636F;ENSP00000443798:S1622F	ENSP00000353174:S1636F	S	+	2	0	0	RYR2	235843964	235843964	0.980000	0.34600	0.993000	0.49108	0.973000	0.67179	2.512000	0.45485	2.613000	0.88420	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001035			28	28		164	162	1		1			0	0	32	0		1	0	0	0	0	0	0	28	164
RYR2	6262	broad.mit.edu	37	1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1950	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)			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)			GTCATGCAAGCCTTAAACATG	0.428																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(5848-5850)gCc>gTc		ryanodine receptor 2 (cardiac)							103.0	97.0	99.0					1																	237780719		2013	4200	6213	SO:0001583	missense	6262	0	0					g.chr1:237780719C>T	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.5849C>T	chr1.hg19:g.237780719C>T	ENSP00000355533:p.Ala1950Val	1					RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V	p.A1950V	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	38	6166	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.5849C>T	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.306871	0.95629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.85539	0.5720	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.86757	0.1964	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1950	Q92736	RYR2_HUMAN	V	1950;1948;1934	ENSP00000355533:A1950V;ENSP00000353174:A1948V;ENSP00000443798:A1934V	ENSP00000353174:A1948V	A	+	2	0	0	RYR2	235847342	235847342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001035			58	57		251	241	1		1	0		0	0	74	0		1	3.648281e-02	0	0	0	2	0	58	251
RYR2	6262	broad.mit.edu	37	1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2195	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)			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)			TGGTGGCCAACTGTTGCCGTT	0.393																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(6583-6585)aaC>aaA		ryanodine receptor 2 (cardiac)							251.0	243.0	246.0					1																	237796907		1880	4101	5981	SO:0001583	missense	6262	0	0					g.chr1:237796907C>A	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.6585C>A	chr1.hg19:g.237796907C>A	ENSP00000355533:p.Asn2195Lys	1					RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K	p.N2195K	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	43	6902	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.6585C>A	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097651	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95137	-3.62;-3.62;-3.62	4.9	3.99	0.46301	4.9	3.99	0.46301	Intracellular calcium-release channel (1);	0.074616	0.49916	D	0.000136	D	0.91153	0.7214	N	0.08118	0	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.89626	0.3852	10	0.41790	T	0.15	-19.2027	8.245	0.31682	0.0:0.7581:0.0:0.2419	.	2195	Q92736	RYR2_HUMAN	K	2195;2193;2179	ENSP00000355533:N2195K;ENSP00000353174:N2193K;ENSP00000443798:N2179K	ENSP00000353174:N2193K	N	+	3	2	2	RYR2	235863530	235863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	1.180000	0.42898	0.563000	0.77884	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_001035			185	182		657	652	1		1			0	0	127	0		1	0	0	0	0	0	0	185	657
RYR2	6262	broad.mit.edu	37	1	237801716	237801716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000542537.1_Silent_p.G2268G|RYR2_ENST00000360064.6_Silent_p.G2282G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	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)			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)			TGTCTAAGGGCTATCCAGACA	0.433																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(6850-6852)ggC>ggT		ryanodine receptor 2 (cardiac)							279.0	273.0	275.0					1																	237801716		1918	4137	6055	SO:0001819	synonymous_variant	6262	0	0					g.chr1:237801716C>T	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.6852C>T	chr1.hg19:g.237801716C>T		1					RYR2_ENST00000542537.1_Silent_p.G2268G|RYR2_ENST00000360064.6_Silent_p.G2282G	p.G2284G	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	45	7169	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	1	1	hg19	c.6852C>T	CCDS55691.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_001035			145	143		700	694	1		1	0		0	0	145	0		1	0	0	0	0	1	0	145	700
RYR2	6262	broad.mit.edu	37	1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3550					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)			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)			ACGGTAGAAAGAGTATTGGAT	0.383																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(10648-10650)aGa>aTa		ryanodine receptor 2 (cardiac)							150.0	142.0	145.0					1																	237886522		1867	4086	5953	SO:0001583	missense	6262	0	0					g.chr1:237886522G>T	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.10649G>T	chr1.hg19:g.237886522G>T	ENSP00000355533:p.Arg3550Ile	1					RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I|RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I	p.R3550I	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	74	10966	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.10649G>T	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916312	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.23	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	D	0.97328	0.9126	M	0.77406	2.37	0.80722	D	1	P	0.49696	0.927	P	0.46758	0.526	D	0.97220	0.9877	10	0.52906	T	0.07	-17.554	20.275	0.98485	0.0:0.0:1.0:0.0	.	3550	Q92736	RYR2_HUMAN	I	3550;3548;3534;505	ENSP00000355533:R3550I;ENSP00000353174:R3548I;ENSP00000443798:R3534I	ENSP00000353174:R3548I	R	+	2	0	0	RYR2	235953145	235953145	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	9.539000	0.98076	2.800000	0.96347	0.455000	0.32223	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_001035			112	109		337	335	1		1			0	0	79	0		1	0	0	0	0	0	0	112	337
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4911					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)			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)			ACACTTTACAGGAGCACAACT	0.458																																						ENST00000366574.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				586						c.(14731-14733)caG>caT		ryanodine receptor 2 (cardiac)							181.0	170.0	173.0					1																	237993907		1967	4164	6131	SO:0001583	missense	6262	0	0					g.chr1:237993907G>T	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.14733G>T	chr1.hg19:g.237993907G>T	ENSP00000355533:p.Gln4911His	1					RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H	p.Q4911H	NM_001035.2	NP_001026.2	1	2	3	2.185793	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	103	15050	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.14733G>T	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870785	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.09;-4.12	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000011	D	0.93598	0.7956	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.89771	0.3954	10	0.87932	D	0	-13.8307	19.143	0.93452	0.0:0.0:1.0:0.0	.	4911	Q92736	RYR2_HUMAN	H	4911;4917;4895	ENSP00000355533:Q4911H;ENSP00000353174:Q4917H;ENSP00000443798:Q4895H	ENSP00000353174:Q4917H	Q	+	3	2	2	RYR2	236060530	236060530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	2.509000	0.84616	0.561000	0.74099	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-4.963626	1	0.170000	NM_001035			144	141		461	455	1		1	1		0	0	111	0		1	3.429918e-01	0	2	0	3	0	144	461
ZP4	57829	broad.mit.edu	37	1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	rs140243550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	222	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.A222V(1)|p.A222G(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)			AGGGTTACACGCACTGTCATT	0.517																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A222V(1)|p.A222G(1)	ovary(1)|endometrium(1)	73						c.(664-666)gCg>gTg		zona pellucida glycoprotein 4							172.0	160.0	164.0					1																	238050750		2203	4300	6503	SO:0001583	missense	57829	196	121412	57				g.chr1:238050750G>A	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.665C>T	chr1.hg19:g.238050750G>A	ENSP00000355529:p.Ala222Val	1					RP11-193H5.1_ENST00000450451.1_RNA	p.A222V	NM_021186.3	NP_067009.1	1	2	3	2.185793	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	5	823	-	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)	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	1	0	hg19	c.665C>T	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	3.074	-0.190522	0.06299	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.93	-8.3	0.01005	4.93	-8.3	0.01005	Zona pellucida sperm-binding protein (3);	1.364050	0.04810	N	0.435104	T	0.61837	0.2379	N	0.16368	0.405	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.48854	-0.8998	10	0.31617	T	0.26	-0.9556	0.9693	0.01412	0.2043:0.2773:0.3177:0.2008	.	222	Q12836	ZP4_HUMAN	V	222	ENSP00000355529:A222V	ENSP00000355529:A222V	A	-	2	0	0	ZP4	236117373	236117373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.928000	0.01560	-1.824000	0.01209	-2.892000	0.00095	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-2.665753	1	0.170000				130	127		367	358	1		1			0	0	101	0		1	0	0	0	0	0	0	130	367
ZP4	57829	broad.mit.edu	37	1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A	rs371052672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	5					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.R5W(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)			AAAACGCACCGCAGCAGCCAC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R5W(1)	large_intestine(1)	73						c.(13-15)Cgg>Tgg		zona pellucida glycoprotein 4		G	TRP/ARG	0,4406		0,0,2203	38.0	38.0	38.0		13	-2.1	0.0	1		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	5/541	238053923	1,13005	2203	4300	6503	SO:0001583	missense	57829	7	121408	36				g.chr1:238053923G>A	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.13C>T	chr1.hg19:g.238053923G>A	ENSP00000355529:p.Arg5Trp	1					RP11-193H5.1_ENST00000450451.1_RNA	p.R5W	NM_021186.3	NP_067009.1	1	2	3	2.185793	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	1	171	-	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)	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	1	1	hg19	c.13C>T	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543054	0.27563	0.0	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	3.64	-2.11	0.07187	3.64	-2.11	0.07187	.	2.841300	0.01275	N	0.009565	T	0.53690	0.1812	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.62326	D	0.03	5.1698	4.3134	0.10981	0.4909:0.1788:0.3303:0.0	.	5	Q12836	ZP4_HUMAN	W	5	ENSP00000355529:R5W	ENSP00000355529:R5W	R	-	1	2	2	ZP4	236120546	236120546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.416000	0.07473	0.563000	0.77884	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.409387	1	0.170000				42	43		197	194	1		1			0	0	48	0		1	0	0	0	0	0	0	42	197
CHRM3	1131	broad.mit.edu	37	1	240070919	240070919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	56					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.T56T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACGGTACCACCGATGACCCTC	0.572																																						ENST00000255380.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T56T(1)	endometrium(1)	51						c.(166-168)acC>acT		cholinergic receptor, muscarinic 3	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)						106.0	99.0	101.0					1																	240070919		2203	4300	6503	SO:0001819	synonymous_variant	1131	1	121412	31				g.chr1:240070919C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.168C>T	chr1.hg19:g.240070919C>T		1						p.T56T	NM_000740.2	NP_000731.1	1	2	3	2.185793	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	5	947	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	1	1	hg19	c.168C>T	CCDS1616.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-4.408015	1	0.170000	NM_000740			120	117		376	371	1		1	1		0	0	92	0		1	5.940395e-02	0	2	0	0	0	120	376
CHRM3	1131	broad.mit.edu	37	1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGCAGCAGTACCAGCAGAGA	0.493																																						ENST00000255380.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1717-1719)tAc>tGc		cholinergic receptor, muscarinic 3	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)						48.0	48.0	48.0					1																	240072469		2203	4300	6503	SO:0001583	missense	1131	0	0					g.chr1:240072469A>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1718A>G	chr1.hg19:g.240072469A>G	ENSP00000255380:p.Tyr573Cys	1						p.Y573C	NM_000740.2	NP_000731.1	1	2	3	2.185793	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	5	2497	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	1	1	hg19	c.1718A>G	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226261	0.58668	.	.	ENSG00000133019	ENST00000255380	T	0.37235	1.21	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.202097	0.43919	D	0.000502	T	0.52661	0.1748	M	0.62723	1.935	0.58432	D	0.999991	D	0.69078	0.997	P	0.56865	0.808	T	0.56884	-0.7905	10	0.87932	D	0	-18.9527	15.7553	0.78018	1.0:0.0:0.0:0.0	.	573	P20309	ACM3_HUMAN	C	573	ENSP00000255380:Y573C	ENSP00000255380:Y573C	Y	+	2	0	0	CHRM3	238139092	238139092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.127000	0.65507	0.533000	0.62120	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_000740			50	49		280	272	1		1	1		0	0	77	0		1	6.109513e-01	0	4	0	9	0	50	280
FMN2	56776	broad.mit.edu	37	1	240255963	240255963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240255963G>A	ENST00000319653.9	+	1	784	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	185					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACATCTATAGCTTCCATTCG	0.627																																						ENST00000319653.9	0.530000	0.120000	4.100000e-01	1.900000e-01	0.280000	0.305465	0.280000	0.270000																										0				178						c.(553-555)aGc>aAc		formin 2							72.0	71.0	72.0					1																	240255963		2203	4300	6503	SO:0001583	missense	56776	0	0					g.chr1:240255963G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.554G>A	chr1.hg19:g.240255963G>A	ENSP00000318884:p.Ser185Asn	1						p.S185N	NM_020066.4	NP_064450.3	1	2	3	2.185793	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	1	784	+	Ovarian(103;0.127)	all_cancers(173;0.013)	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	0	1	hg19	c.554G>A	CCDS31069.2	0	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527126	0.44969	.	.	ENSG00000155816	ENST00000319653	T	0.61274	0.12	3.68	3.68	0.42216	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000001	T	0.72637	0.3485	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77542	-0.2549	10	0.87932	D	0	.	15.9248	0.79609	0.0:0.0:1.0:0.0	.	185	Q9NZ56	FMN2_HUMAN	N	185	ENSP00000318884:S185N	ENSP00000318884:S185N	S	+	2	0	0	FMN2	238322586	238322586	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.614000	0.90917	2.046000	0.60703	0.313000	0.20887	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	0	0	0		2	2	2	0		0	0	71		71	69	1	2.060000	-7.198609	1	0.170000	XM_371352			7	7		322	320	0		1	0		0	0	71	0		9.804712e-01	0	0	0	0	1	0	7	322
FMN2	56776	broad.mit.edu	37	1	240256573	240256573	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	ENST00000319653.9	+	1	1394	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	388					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCAAGGACCTGACGCCC	0.726																																						ENST00000319653.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				178						c.(1162-1164)ggA>ggC		formin 2							16.0	21.0	19.0					1																	240256573		2191	4284	6475	SO:0001819	synonymous_variant	56776	0	0					g.chr1:240256573A>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1164A>C	chr1.hg19:g.240256573A>C		1						p.G388G	NM_020066.4	NP_064450.3	1	2	3	2.185793	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	1	1394	+	Ovarian(103;0.127)	all_cancers(173;0.013)	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	0	1	hg19	c.1164A>C	CCDS31069.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	XM_371352			32	32		148	140	0		1			0	0	17	0		1	0	0	0	0	0	0	32	148
FMN2	56776	broad.mit.edu	37	1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	442					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672																																						ENST00000319653.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				178						c.(1324-1326)aGg>aAg		formin 2							47.0	54.0	52.0					1																	240256734		2200	4295	6495	SO:0001583	missense	56776	0	0					g.chr1:240256734G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1325G>A	chr1.hg19:g.240256734G>A	ENSP00000318884:p.Arg442Lys	1						p.R442K	NM_020066.4	NP_064450.3	1	2	3	2.185793	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	1	1555	+	Ovarian(103;0.127)	all_cancers(173;0.013)	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	1	1	hg19	c.1325G>A	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101876	0.37048	.	.	ENSG00000155816	ENST00000319653	T	0.80994	-1.44	4.51	3.6	0.41247	4.51	3.6	0.41247	.	0.301205	0.27981	N	0.017078	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.54516	-0.8282	10	0.25106	T	0.35	.	4.2569	0.10721	0.1893:0.0:0.5758:0.2349	.	442	Q9NZ56	FMN2_HUMAN	K	442	ENSP00000318884:R442K	ENSP00000318884:R442K	R	+	2	0	0	FMN2	238323357	238323357	0.974000	0.33945	1.000000	0.80357	0.976000	0.68499	1.751000	0.38339	1.105000	0.41606	0.563000	0.77884	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-4.556416	1	0.170000	XM_371352			122	121		404	398	0		1	0		0	0	91	0		1	5.439954e-02	0	0	0	2	0	122	404
FMN2	56776	broad.mit.edu	37	1	240370368	240370368	+	Silent	SNP	C	C	T	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	752					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547																																						ENST00000319653.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G895G(1)	large_intestine(1)	178						c.(2254-2256)ggC>ggT		formin 2		T		0,4406		0,0,2203	44.0	42.0	43.0		2256	-7.8	0.0	1	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FMN2	NM_020066.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		752/1723	240370368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56776	55	121412	46				g.chr1:240370368C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2256C>T	chr1.hg19:g.240370368C>T		1						p.G752G	NM_020066.4	NP_064450.3	1	2	3	2.185793	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	5	2486	+	Ovarian(103;0.127)	all_cancers(173;0.013)	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	1	1	hg19	c.2256C>T	CCDS31069.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-4.461436	1	0.170000	XM_371352			35	34		193	186	1		1	0		0	0	43	0		1	1.196344e-01	0	0	0	4	0	35	193
TCEB3	6924	broad.mit.edu	37	1	24076437	24076437	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TCEB3_ENST00000487554.1_3'UTR|TCEB3_ENST00000609199.1_Splice_Site_p.R80*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	106					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCTGTGGAACGGTAAGAACA	0.393																																						ENST00000418390.2	1.000000	0.600000	9.700000e-01	7.500000e-01	0.880000	0.865787	0.880000	0.990000																										0				19						c.(316-318)Cga>Tga		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							81.0	83.0	82.0					1																	24076437		2203	4300	6503	SO:0001630	splice_region_variant	6924	0	0					g.chr1:24076437C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.317+1C>T	chr1.hg19:g.24076437C>T		1					TCEB3_ENST00000609199.1_Splice_Site_p.R80*|TCEB3_ENST00000487554.1_3'UTR	p.R106*	NM_003198.2	NP_003189.2	0	1	1	1.828421	Q14241	ELOA1_HUMAN		3	587	+		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)	B2R7Q8|Q8IXH1	Splice_Site	SNP	ENST00000418390.2	0	1	hg19	c.316C>T	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	C	38	6.847530	0.97881	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.92	3.89	0.44902	5.92	3.89	0.44902	.	0.278788	0.27424	N	0.019427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6452	13.8483	0.63481	0.3956:0.6044:0.0:0.0	.	.	.	.	X	106	.	ENSP00000395574:R106X	R	+	1	2	2	TCEB3	23949024	23949024	0.767000	0.28508	1.000000	0.80357	0.995000	0.86356	0.433000	0.21477	1.480000	0.48289	0.650000	0.86243	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	0	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-19.999310	1	0.170000	NM_003198	Nonsense_Mutation		15	15		117	116	0		1	1		0	0	33	0		9.998989e-01	9.953713e-01	0	3	0	70	0	15	117
GREM2	64388	broad.mit.edu	37	1	240656545	240656545	+	Silent	SNP	C	C	T	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	77	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647																																						ENST00000318160.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(229-231)ccG>ccA		gremlin 2, DAN family BMP antagonist		C		1,4405	2.1+/-5.4	0,1,2202	49.0	50.0	50.0		231	-7.2	1.0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	GREM2	NM_022469.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		77/169	240656545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64388	0	0					g.chr1:240656545C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.231G>A	chr1.hg19:g.240656545C>T		1						p.P77P	NM_022469.3	NP_071914.3	1	2	3	2.185793	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)	2	497	-		all_cancers(173;0.0196)	Q86UD9	Silent	SNP	ENST00000318160.4	1	1	hg19	c.231G>A	CCDS31070.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-20.000000	1	0.170000	NM_022469			100	98		372	366	1		1			0	0	66	0		1	0	0	0	0	0	0	100	372
RGS7	6000	broad.mit.edu	37	1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000407727.1	-	14	1208	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000366565.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	403	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)			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)			TTTTGTCATAACTCTTGGAAT	0.478																																						ENST00000407727.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1207-1209)agT>agG		regulator of G-protein signaling 7							200.0	175.0	184.0					1																	240969500		2203	4300	6503	SO:0001583	missense	6000	0	0					g.chr1:240969500A>C	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.1209T>G	chr1.hg19:g.240969500A>C	ENSP00000384428:p.Ser403Arg	1					RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366565.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R	p.S403R			1	2	3	2.185793	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)	14	1208	-		all_cancers(173;0.0131)	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	1	1	hg19	c.1209T>G		1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119829	0.77323	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.95	2.34	0.29019	5.95	2.34	0.29019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.036320	0.85682	N	0.000000	T	0.10981	0.0268	M	0.87900	2.915	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0;0.993;1.0	T	0.00389	-1.1770	10	0.87932	D	0	.	4.96	0.14061	0.5959:0.1587:0.2455:0.0	.	319;377;350;403;403;403;403	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	377;403;403;403;234;350;319;403;403;350	ENSP00000331485:S377R;ENSP00000355523:S403R;ENSP00000355522:S403R;ENSP00000355521:S403R;ENSP00000404399:S234R;ENSP00000341242:S350R;ENSP00000390138:S319R;ENSP00000355520:S403R;ENSP00000384428:S403R;ENSP00000385508:S350R	ENSP00000331485:S377R	S	-	3	2	2	RGS7	239036123	239036123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.096000	0.41738	0.524000	0.28502	0.528000	0.53228	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_002924			125	124		386	381	1		1	0		0	0	89	0		1	2.547665e-01	0	0	0	4	0	125	386
RGS7	6000	broad.mit.edu	37	1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000407727.1	-	8	582	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000366565.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	195					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)			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)			TCCCAGAACGCTCTCTCTTGG	0.478																																						ENST00000407727.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(583-585)Gcg>Tcg		regulator of G-protein signaling 7							152.0	117.0	129.0					1																	241031913		2203	4300	6503	SO:0001583	missense	6000	0	0					g.chr1:241031913C>A	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.583G>T	chr1.hg19:g.241031913C>A	ENSP00000384428:p.Ala195Ser	1					RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366565.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S	p.A195S			1	2	3	2.185793	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)	8	582	-		all_cancers(173;0.0131)	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	1	1	hg19	c.583G>T		1	.	.	.	.	.	.	.	.	.	.	C	33	5.276787	0.95459	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.26;0.32;0.31;-0.03;0.56;0.49;0.32;0.26;0.56	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.88775	2.98	0.80722	D	1	D;P;P;D;P;D;D	0.71674	0.968;0.919;0.951;0.998;0.951;0.996;0.969	P;P;P;D;P;D;P	0.70016	0.718;0.507;0.769;0.967;0.769;0.926;0.818	D	0.85729	0.1330	10	0.87932	D	0	-10.8088	18.6358	0.91378	0.0:1.0:0.0:0.0	.	111;169;142;195;195;195;195	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	169;195;195;195;26;142;111;195;195;142	ENSP00000331485:A169S;ENSP00000355523:A195S;ENSP00000355522:A195S;ENSP00000355521:A195S;ENSP00000404399:A26S;ENSP00000341242:A142S;ENSP00000390138:A111S;ENSP00000355520:A195S;ENSP00000384428:A195S;ENSP00000385508:A142S	ENSP00000331485:A169S	A	-	1	0	0	RGS7	239098536	239098536	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_002924			71	67		396	391	1		1	0		0	0	77	0		1	6.404044e-02	0	0	0	3	0	71	396
FH	2271	broad.mit.edu	37	1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	108					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)			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)		ACCATAATCCTGGTTTACTTC	0.373			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		hereditary leiomyomatosis and renal cell cancer	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	1q42.1	2271	Mis, N, F	fumarate hydratase				"""E, M"""	E, M		lieomyomatosis, renal			0				26						c.(322-324)cAg>cGg		fumarate hydratase							146.0	144.0	145.0					1																	241676958		2203	4300	6503	SO:0001583	missense	2271	0	0		Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	g.chr1:241676958T>C	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.323A>G	chr1.hg19:g.241676958T>C	ENSP00000355518:p.Gln108Arg	1					FH_ENST00000493477.1_5'Flank	p.Q108R	NM_000143.3	NP_000134.2	1	2	3	2.185793	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	3	361	-	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)	B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	1	1	hg19	c.323A>G	CCDS1617.1	1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022955	0.54683	.	.	ENSG00000091483	ENST00000366560	D	0.99304	-5.72	5.85	5.85	0.93711	5.85	5.85	0.93711	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.171783	0.52532	D	0.000071	D	0.95887	0.8661	N	0.05078	-0.115	0.51767	D	0.999934	B	0.02656	0.0	B	0.08055	0.003	D	0.94601	0.7796	10	0.16420	T	0.52	-25.9253	14.1942	0.65659	0.0:0.0:0.0:1.0	.	108	P07954	FUMH_HUMAN	R	108	ENSP00000355518:Q108R	ENSP00000355518:Q108R	Q	-	2	0	0	FH	239743581	239743581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.234000	0.73211	0.533000	0.62120	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_000143			158	155		454	441	1		1	1		0	0	115	0		1	1	0	85	0	184	0	158	454
KMO	8564	broad.mit.edu	37	1	241713053	241713053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241713053A>C	ENST00000366559.4	+	3	512	c.201A>C	c.(199-201)aaA>aaC	p.K67N	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K67N|KMO_ENST00000366557.4_Missense_Mutation_p.K67N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											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)			AAGCCTTGAAAGCTGTTGGCC	0.418																																						ENST00000366559.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(199-201)aaA>aaC		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							167.0	144.0	152.0					1																	241713053		2203	4300	6503	SO:0001583	missense	8564	0	0					g.chr1:241713053A>C	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.201A>C	chr1.hg19:g.241713053A>C	ENSP00000355517:p.Lys67Asn	1					KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K67N|KMO_ENST00000366557.4_Missense_Mutation_p.K67N	p.K67N	NM_003679.4	NP_003670.2	1	2	3	2.185793			OV - Ovarian serous cystadenocarcinoma(106;0.0176)	3	512	+	Ovarian(103;0.103)|all_lung(81;0.23)			Missense_Mutation	SNP	ENST00000366559.4	1	0	hg19	c.201A>C	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811367	0.32053	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.53857	0.6;0.6;0.6	5.37	1.66	0.24008	5.37	1.66	0.24008	Monooxygenase, FAD-binding (1);	0.232106	0.49916	N	0.000129	T	0.43366	0.1244	L	0.54323	1.7	0.38500	D	0.948192	B;B;B	0.21225	0.042;0.053;0.034	B;B;B	0.30716	0.038;0.119;0.033	T	0.33828	-0.9853	10	0.52906	T	0.07	.	2.5525	0.04752	0.614:0.1547:0.0831:0.1483	.	67;67;67	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	67	ENSP00000355517:K67N;ENSP00000355516:K67N;ENSP00000355515:K67N	ENSP00000355515:K67N	K	+	3	2	2	KMO	239779676	239779676	0.999000	0.42202	0.999000	0.59377	0.459000	0.32528	0.638000	0.24674	0.080000	0.16959	0.533000	0.62120	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	1	0	0		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_003679			122	119		375	370	0		1	0		0	0	101	0		1	9.028921e-01	0	0	0	15	0	122	375
KMO	8564	broad.mit.edu	37	1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366558.3_Missense_Mutation_p.K231N|KMO_ENST00000366557.4_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											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)			CACAGAACAAATCATTCACAT	0.438																																						ENST00000366559.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(691-693)aaA>aaC		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							146.0	140.0	142.0					1																	241729796		2203	4300	6503	SO:0001583	missense	8564	0	0					g.chr1:241729796A>C	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.693A>C	chr1.hg19:g.241729796A>C	ENSP00000355517:p.Lys231Asn	1					KMO_ENST00000366558.3_Missense_Mutation_p.K231N|KMO_ENST00000366557.4_Missense_Mutation_p.K231N	p.K231N	NM_003679.4	NP_003670.2	1	2	3	2.185793			OV - Ovarian serous cystadenocarcinoma(106;0.0176)	9	1004	+	Ovarian(103;0.103)|all_lung(81;0.23)			Missense_Mutation	SNP	ENST00000366559.4	1	1	hg19	c.693A>C	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945479	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.92	3.65	0.41850	5.92	3.65	0.41850	Monooxygenase, FAD-binding (1);	0.084078	0.85682	D	0.000000	T	0.57007	0.2024	L	0.60067	1.865	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.988;0.791	P;P;B	0.62491	0.903;0.903;0.319	T	0.55964	-0.8057	10	0.48119	T	0.1	.	8.0608	0.30631	0.8372:0.0:0.1628:0.0	.	231;231;231	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	231	ENSP00000355517:K231N;ENSP00000355516:K231N;ENSP00000355515:K231N	ENSP00000355515:K231N	K	+	3	2	2	KMO	239796419	239796419	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.617000	0.54181	1.083000	0.41159	0.528000	0.53228	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_003679			120	119		364	359	1		1	0		0	0	104	0		1	7.507810e-01	0	1	0	9	0	120	364
OPN3	23596	broad.mit.edu	37	1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	341					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463																																						ENST00000366554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1021-1023)gCt>gAt		opsin 3							123.0	123.0	123.0					1																	241757917		2203	4300	6503	SO:0001583	missense	23596	0	0					g.chr1:241757917G>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.1022C>A	chr1.hg19:g.241757917G>T	ENSP00000355512:p.Ala341Asp	1					OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|KMO_ENST00000366557.4_3'UTR	p.A341D	NM_014322.2	NP_055137.2	1	2	3	2.185793	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	4	1128	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	1	1	hg19	c.1022C>A	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228311	0.22542	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.69561	-0.41;-0.0	4.11	-2.95	0.05564	4.11	-2.95	0.05564	.	0.979536	0.08373	N	0.955721	T	0.44891	0.1315	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.30208	-0.9986	10	0.49607	T	0.09	.	1.9055	0.03276	0.3059:0.1376:0.4074:0.1491	.	341	Q9H1Y3	OPN3_HUMAN	D	341;262	ENSP00000355512:A341D;ENSP00000328018:A262D	ENSP00000328018:A262D	A	-	2	0	0	OPN3	239824540	239824540	0.004000	0.15560	0.000000	0.03702	0.713000	0.41058	0.437000	0.21543	-0.649000	0.05430	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	1	0	1		22	2	2	0		0	1	110		110	106	1	2.060000	-20.000000	1	0.170000	NM_014322			142	141		591	577	1		1	1		0	0	110	0		1	9.999993e-01	0	14	0	70	0	142	591
CHML	1122	broad.mit.edu	37	1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	403					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373																																						ENST00000366553.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1207-1209)cGt>cAt		choroideremia-like (Rab escort protein 2)							68.0	73.0	71.0					1																	241797861		2201	4298	6499	SO:0001583	missense	1122	6	121398	38				g.chr1:241797861C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1208G>A	chr1.hg19:g.241797861C>T	ENSP00000355511:p.Arg403His	1					OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.R403H	NM_001821.3	NP_001812.2	1	2	3	2.185793	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	1	1371	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	1	1	hg19	c.1208G>A	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815051	0.32053	.	.	ENSG00000203668	ENST00000366553	T	0.59772	0.24	4.4	3.45	0.39498	4.4	3.45	0.39498	.	0.286793	0.38492	U	0.001671	T	0.41949	0.1181	.	.	.	0.42068	D	0.991193	B	0.28178	0.202	B	0.22880	0.042	T	0.36407	-0.9749	9	0.41790	T	0.15	-4.2563	7.1729	0.25728	0.0:0.8721:0.0:0.1279	.	403	P26374	RAE2_HUMAN	H	403	ENSP00000355511:R403H	ENSP00000355511:R403H	R	-	2	0	0	CHML	239864484	239864484	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	1.321000	0.33678	1.377000	0.46286	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_001821			62	62		323	323	1		1	1		0	0	65	0		1	9.496014e-01	0	5	0	23	0	62	323
CHML	1122	broad.mit.edu	37	1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	356					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398																																						ENST00000366553.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1066-1068)gGt>gTt		choroideremia-like (Rab escort protein 2)							127.0	126.0	127.0					1																	241798002		2203	4299	6502	SO:0001583	missense	1122	0	0					g.chr1:241798002C>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1067G>T	chr1.hg19:g.241798002C>A	ENSP00000355511:p.Gly356Val	1					OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.G356V	NM_001821.3	NP_001812.2	1	2	3	2.185793	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	1	1230	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	1	1	hg19	c.1067G>T	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104997	0.56291	.	.	ENSG00000203668	ENST00000366553	D	0.86366	-2.11	4.96	3.99	0.46301	4.96	3.99	0.46301	.	0.107759	0.64402	U	0.000006	D	0.92564	0.7638	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	9	0.62326	D	0.03	-9.7362	13.364	0.60674	0.0:0.8401:0.1598:0.0	.	356	P26374	RAE2_HUMAN	V	356	ENSP00000355511:G356V	ENSP00000355511:G356V	G	-	2	0	0	CHML	239864625	239864625	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.935000	0.56560	2.752000	0.94435	0.655000	0.94253	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_001821			141	141		374	371	1		1	1		0	0	90	0		1	9.947722e-01	0	7	0	17	0	141	374
CHML	1122	broad.mit.edu	37	1	241798700	241798700	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	123					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCCCCAAAGAAGGATTTTTCT	0.423																																						ENST00000366553.1	0.420000	0.210000	3.700000e-01	2.500000e-01	0.300000	0.317016	0.300000	0.300000																										0				26						c.(367-369)ccT>ccG		choroideremia-like (Rab escort protein 2)							145.0	150.0	148.0					1																	241798700		2203	4298	6501	SO:0001819	synonymous_variant	1122	0	0					g.chr1:241798700A>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.369T>G	chr1.hg19:g.241798700A>C		1					OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.P123P	NM_001821.3	NP_001812.2	1	2	3	2.185793	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	1	532	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	1	1	hg19	c.369T>G	CCDS31073.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	0	0	1		2	2	2	0		0	0	254		254	253	1	2.060000	-3.371032	1	0.170000	NM_001821			34	34		1370	1348	0		1	0		0	0	254	0		1	6.662883e-02	0	1	0	16	0	34	1370
WDR64	128025	broad.mit.edu	37	1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1025										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)			AGTCTAAGATTTCTTCCACTG	0.408																																						ENST00000366552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3073-3075)tTt>tGt		WD repeat domain 64							102.0	90.0	94.0					1																	241959584		2203	4300	6503	SO:0001583	missense	128025	0	0					g.chr1:241959584T>G	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.3074T>G	chr1.hg19:g.241959584T>G	ENSP00000355510:p.Phe1025Cys	1					WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	p.F1025C	NM_144625.4	NP_653226.4	1	2	3	2.185793	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)	26	3281	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	1	1	hg19	c.3074T>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.560402|1.560402	0.27827|0.27827	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|T	0.46819|0.34472	1.1;0.86;0.87|1.36	5.22|5.22	2.69|2.69	0.31865|0.31865	5.22|5.22	2.69|2.69	0.31865|0.31865	.|.	0.684160|0.684160	0.13676|0.13676	N|N	0.370531|0.370531	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.57536|0.57536	1.79|1.79	0.21325|0.21325	N|N	0.99972|0.99972	D;P|.	0.76494|.	0.999;0.947|.	P;P|.	0.59703|.	0.862;0.541|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.59425|0.48119	D|T	0.04|0.1	-7.4809|-7.4809	7.511|7.511	0.27573|0.27573	0.3467:0.0:0.0:0.6533|0.3467:0.0:0.0:0.6533	.|.	1025;578|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	C|V	1025;858;629|504	ENSP00000355510:F1025C;ENSP00000402446:F858C;ENSP00000406656:F629C|ENSP00000406342:F504V	ENSP00000355510:F1025C|ENSP00000406342:F504V	F|F	+|+	2|1	0|0	0|0	WDR64|WDR64	240026207|240026207	240026207|240026207	0.996000|0.996000	0.38824|0.38824	0.599000|0.599000	0.28851|0.28851	0.041000|0.041000	0.13682|0.13682	0.723000|0.723000	0.25939|0.25939	0.897000|0.897000	0.36392|0.36392	-0.490000|-0.490000	0.04691|0.04691	TTT|TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_144625			92	89		227	225	1		1			0	0	53	0		1	0	0	0	0	0	0	92	227
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	rs185903348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										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)			CATGTTCAACGTGAAAAAGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.0		0.001	False		,,,				2504	0.0					ENST00000366552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3154-3156)cGt>cAt		WD repeat domain 64							82.0	79.0	80.0					1																	241959665		2203	4300	6503	SO:0001583	missense	128025	1	121408	34				g.chr1:241959665G>A	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.3155G>A	chr1.hg19:g.241959665G>A	ENSP00000355510:p.Arg1052His	1					WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	p.R1052H	NM_144625.4	NP_653226.4	1	2	3	2.185793	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)	26	3362	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	1	1	hg19	c.3155G>A		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	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	0|0	WDR64|WDR64	240026288|240026288	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_144625			48	48		213	211	1		1			0	0	50	0		1	0	0	0	0	0	0	48	213
EXO1	9156	broad.mit.edu	37	1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	322	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308								Editing and processing nucleases																														ENST00000366548.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999907	0.990000	1.000000																										0				45						c.(964-966)Gct>Act	Editing and processing nucleases	exonuclease 1							76.0	77.0	77.0					1																	242024727		2203	4300	6503	SO:0001583	missense	9156	0	0					g.chr1:242024727G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.964G>A	chr1.hg19:g.242024727G>A	ENSP00000355506:p.Ala322Thr	1					EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	p.A322T	NM_130398.3	NP_569082.2	1	2	3	2.185793	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)	10	1557	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	1	1	hg19	c.964G>A	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.051702	0.93793	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36520	1.25;1.25;1.25	4.95	4.95	0.65309	4.95	4.95	0.65309	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.247249	0.39083	N	0.001461	T	0.64692	0.2621	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.966;0.989;0.952	T	0.70655	-0.4812	10	0.72032	D	0.01	-4.9476	18.1442	0.89649	0.0:0.0:1.0:0.0	.	322;322;322	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	322	ENSP00000355506:A322T;ENSP00000311873:A322T;ENSP00000430251:A322T	ENSP00000311873:A322T	A	+	1	0	0	EXO1	240091350	240091350	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.099000	0.94207	2.463000	0.83235	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_006027			25	25		148	143	1		1	1		0	0	55	0		9.999999e-01	2.802329e-01	0	3	0	4	0	25	148
EXO1	9156	broad.mit.edu	37	1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	355	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368								Editing and processing nucleases																														ENST00000366548.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1063-1065)aGt>aAt	Editing and processing nucleases	exonuclease 1							109.0	103.0	105.0					1																	242030154		2203	4300	6503	SO:0001583	missense	9156	0	0					g.chr1:242030154G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1064G>A	chr1.hg19:g.242030154G>A	ENSP00000355506:p.Ser355Asn	1					EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	p.S355N	NM_130398.3	NP_569082.2	1	2	3	2.185793	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)	11	1657	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	1	1	hg19	c.1064G>A	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829897	0.16749	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.38401	1.2;1.2;1.14	5.75	4.83	0.62350	5.75	4.83	0.62350	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.372294	0.35525	N	0.003144	T	0.38852	0.1056	M	0.73598	2.24	0.40987	D	0.984825	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.16722	0.007;0.016;0.006	T	0.25710	-1.0124	10	0.24483	T	0.36	0.0	12.9676	0.58494	0.0761:0.0:0.9239:0.0	.	355;355;355	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	355	ENSP00000355506:S355N;ENSP00000311873:S355N;ENSP00000430251:S355N	ENSP00000311873:S355N	S	+	2	0	0	EXO1	240096777	240096777	1.000000	0.71417	0.979000	0.43373	0.370000	0.29829	3.600000	0.54052	1.429000	0.47314	0.655000	0.94253	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	1	0	0		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_006027			113	111		339	336	1		1	1		0	0	101	0		1	8.017928e-01	0	6	0	5	0	113	339
EXO1	9156	broad.mit.edu	37	1	242052841	242052841	+	Missense_Mutation	SNP	C	C	T	rs145975455	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242052841C>T	ENST00000366548.3	+	16	3073	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	827	Interaction with MLH1.|Interaction with MSH2.		A -> V. {ECO:0000269|PubMed:12517792}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTCCAGAAGCGGAAGAGGAT	0.403								Editing and processing nucleases					C|||	2	0.000399361	0.0	0.0029	5008	,	,		17194	0.0		0.0	False		,,,				2504	0.0					ENST00000366548.3	0.490000	0.180000	4.100000e-01	2.400000e-01	0.310000	0.328203	0.310000	0.300000																										0				45						c.(2479-2481)gCg>gTg	Editing and processing nucleases	exonuclease 1		C	,VAL/ALA,VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	94.0	96.0	95.0		,2480,2480	4.4	0.1	1	dbSNP_134	95	5,8595	4.3+/-15.6	0,5,4295	yes	utr-3,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	,64,64	0,11,6492	TT,TC,CC		0.0581,0.1362,0.0846	,benign,benign	,827/847,827/847	242052841	11,12995	2203	4300	6503	SO:0001583	missense	9156	48	121412	50				g.chr1:242052841C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2480C>T	chr1.hg19:g.242052841C>T	ENSP00000355506:p.Ala827Val	1					EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	p.A827V	NM_130398.3	NP_569082.2	1	2	3	2.185793	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)	16	3073	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	0	1	hg19	c.2480C>T	CCDS1620.1	0	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801986	0.50315	0.001362	5.81E-4	ENSG00000174371	ENST00000366548;ENST00000348581	T;T	0.60424	0.19;0.19	5.32	4.4	0.53042	5.32	4.4	0.53042	.	0.631895	0.15778	N	0.245083	T	0.47985	0.1475	L	0.47716	1.5	0.09310	N	1	B;B	0.31837	0.342;0.342	B;B	0.22753	0.041;0.028	T	0.41197	-0.9522	10	0.49607	T	0.09	-9.9203	11.4966	0.50413	0.0:0.9136:0.0:0.0864	.	826;827	A8K5H6;Q9UQ84	.;EXO1_HUMAN	V	827	ENSP00000355506:A827V;ENSP00000311873:A827V	ENSP00000311873:A827V	A	+	2	0	0	EXO1	240119464	240119464	0.976000	0.34144	0.064000	0.19789	0.957000	0.61999	2.821000	0.48065	1.204000	0.43247	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-2.734313	1	0.170000	NM_006027			15	15		602	589	0		1	0		0	0	116	0		9.998503e-01	9.581481e-02	0	1	0	19	0	15	602
MAP1LC3C	440738	broad.mit.edu	37	1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	84					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567																																						ENST00000357246.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(250-252)Gcc>Acc		microtubule-associated protein 1 light chain 3 gamma							150.0	132.0	139.0					1																	242159659		2203	4300	6503	SO:0001583	missense	440738	0	0					g.chr1:242159659C>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.250G>A	chr1.hg19:g.242159659C>T	ENSP00000349785:p.Ala84Thr	1						p.A84T	NM_001004343.2	NP_001004343.1	1	2	3	2.185793	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	4	314	-			A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	1	1	hg19	c.250G>A	CCDS31074.1	1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928828	0.73327	.	.	ENSG00000197769	ENST00000357246	T	0.59502	0.26	4.18	3.25	0.37280	4.18	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.80982	2.52	0.53688	D	0.999971	B	0.30727	0.292	P	0.51516	0.672	T	0.77000	-0.2750	10	0.87932	D	0	.	13.1202	0.59321	0.1611:0.8389:0.0:0.0	.	84	Q9BXW4	MLP3C_HUMAN	T	84	ENSP00000349785:A84T	ENSP00000349785:A84T	A	-	1	0	0	MAP1LC3C	240226282	240226282	1.000000	0.71417	0.948000	0.38648	0.443000	0.32047	5.100000	0.64560	0.956000	0.37904	0.643000	0.83706	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001004343			95	94		342	334	1		1			0	0	74	0		1	0	0	0	0	0	0	95	342
PLD5	200150	broad.mit.edu	37	1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000442594.2_Missense_Mutation_p.A373D|PLD5_ENST00000427495.1_Missense_Mutation_p.A403D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	465						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			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)			GCCCGTGCCAGCATTCTGAGT	0.408																																						ENST00000536534.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1393-1395)gCt>gAt		phospholipase D family, member 5							131.0	125.0	127.0					1																	242253373		2203	4300	6503	SO:0001583	missense	200150	0	0					g.chr1:242253373G>T	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.1394C>A	chr1.hg19:g.242253373G>T	ENSP00000440896:p.Ala465Asp	1					PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000442594.2_Missense_Mutation_p.A373D	p.A465D			1	2	3	2.185793	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)	10	1635	-	Melanoma(84;0.242)		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	1	1	hg19	c.1394C>A	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481388	0.44147	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.976;0.982	T	0.61950	-0.6957	10	0.87932	D	0	-19.3676	17.7645	0.88473	0.0:0.0:1.0:0.0	.	373;465;403	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	403;373;465	ENSP00000401285:A403D;ENSP00000414188:A373D;ENSP00000440896:A465D	ENSP00000401285:A403D	A	-	2	0	0	PLD5	240319996	240319996	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.145000	0.89625	2.723000	0.93209	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_152666			150	148		555	543	1		1	0		0	0	111	0		1	4.585301e-02	0	0	0	2	0	150	555
PLD5	200150	broad.mit.edu	37	1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000442594.2_Missense_Mutation_p.V97A|PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	189						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			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)			ATCAGCTGTTACATCACTCAC	0.368																																						ENST00000536534.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999877	0.990000	1.000000																										0				55						c.(565-567)gTa>gCa		phospholipase D family, member 5							63.0	61.0	62.0					1																	242428680		2203	4300	6503	SO:0001583	missense	200150	0	0					g.chr1:242428680A>G	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.566T>C	chr1.hg19:g.242428680A>G	ENSP00000440896:p.Val189Ala	1					PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000442594.2_Missense_Mutation_p.V97A	p.V189A			1	2	3	2.185793	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)	4	807	-	Melanoma(84;0.242)		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	1	1	hg19	c.566T>C	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960991	0.34565	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.43294	2.64;2.64;2.64;0.95	5.55	4.41	0.53225	5.55	4.41	0.53225	.	0.270757	0.30762	N	0.008930	T	0.21022	0.0506	N	0.13003	0.285	0.28108	N	0.931111	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.16100	-1.0414	10	0.06494	T	0.89	-19.09	9.713	0.40256	0.9161:0.0:0.0839:0.0	.	97;189;127	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	A	127;97;189;127	ENSP00000401285:V127A;ENSP00000414188:V97A;ENSP00000440896:V189A;ENSP00000438191:V127A	ENSP00000401285:V127A	V	-	2	0	0	PLD5	240495303	240495303	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.031000	0.49728	2.234000	0.73211	0.533000	0.62120	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1		2	2	2	0		0	0	66		66	68	1	2.060000	-14.441670	1	0.170000	NM_152666			29	28		186	183	1		1			0	0	66	0		1	0	0	0	0	0	0	29	186
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	rs375934140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				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)			ATCTGTGGAACGACTTTTTGT	0.408																																						ENST00000366542.1	1.000000	0.580000	1	7.100000e-01	0.860000	0.856901	0.860000	1.000000																										0				62						c.(2983-2985)cGt>cAt		centrosomal protein 170kDa		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3752		0,0,1876	94.0	86.0	89.0		2690,2690,2984	4.9	1.0	1		89	1,8197		0,1,4098	no	missense,missense,missense	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	29,29,29	0,1,5974	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	897/1487,897/1461,995/1585	243328278	1,11949	1876	4099	5975	SO:0001583	missense	9859	3	120812	36				g.chr1:243328278C>T	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.2984G>A	chr1.hg19:g.243328278C>T	ENSP00000355500:p.Arg995His	1					CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	p.R995H	NM_014812.2	NP_055627.2	1	2	3	2.185793	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)	13	3035	-	all_neural(11;0.101)	all_cancers(173;0.003)	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	1	1	hg19	c.2984G>A	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	0|0	CEP170|CEP170	241394901|241394901	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	1	0	1		2	2	2	0		0	0	62		62	78	1	2.060000	-7.697508	1	0.170000	NM_014812			28	27		388	361	0		1	0		0	0	62	0		1	7.840236e-01	0	0	0	42	0	28	388
SDCCAG8	10806	broad.mit.edu	37	1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	87					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)				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)		CAAGCAGATAAGGAAAGTGAA	0.383																																						ENST00000366541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(259-261)aAg>aCg		serologically defined colon cancer antigen 8							133.0	122.0	126.0					1																	243434319		2203	4300	6503	SO:0001583	missense	10806	0	0					g.chr1:243434319A>C	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.260A>C	chr1.hg19:g.243434319A>C	ENSP00000355499:p.Lys87Thr	1					SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron	p.K87T	NM_006642.3	NP_006633.1	1	2	3	2.185793	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	3	378	+	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)	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	1	1	hg19	c.260A>C	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199679	0.58126	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.48522	0.81;0.84	5.52	3.16	0.36331	5.52	3.16	0.36331	.	0.346316	0.33161	N	0.005209	T	0.38054	0.1026	L	0.60455	1.87	0.58432	D	0.999999	B	0.20052	0.041	B	0.19946	0.027	T	0.11108	-1.0601	10	0.15499	T	0.54	-7.9406	6.9153	0.24357	0.7718:0.1498:0.0785:0.0	.	87	Q86SQ7	SDCG8_HUMAN	T	87	ENSP00000348137:K87T;ENSP00000355499:K87T	ENSP00000348137:K87T	K	+	2	0	0	SDCCAG8	241500942	241500942	0.805000	0.28982	0.437000	0.26809	0.822000	0.46500	1.372000	0.34261	0.443000	0.26582	0.533000	0.62120	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_006642			84	83		269	266	1		1	1		0	0	71	0		1	1	0	33	0	94	0	84	269
SDCCAG8	10806	broad.mit.edu	37	1	243468021	243468021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000355875.4_Silent_p.L185L|SDCCAG8_ENST00000391846.1_Silent_p.L228L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	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)				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)		ATAGGAGAAGCTAAAACTTAC	0.259																																						ENST00000366541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(682-684)Cta>Tta		serologically defined colon cancer antigen 8							54.0	58.0	56.0					1																	243468021		2203	4291	6494	SO:0001819	synonymous_variant	10806	0	0					g.chr1:243468021C>T	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.682C>T	chr1.hg19:g.243468021C>T		1					SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000355875.4_Silent_p.L185L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000343783.6_Silent_p.L83L	p.L228L	NM_006642.3	NP_006633.1	1	2	3	2.185793	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	7	800	+	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)	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	1	1	hg19	c.682C>T	CCDS31075.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.259	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-19.983920	1	0.170000	NM_006642			37	36		172	171	0		1	1		0	0	32	0		1	9.999999e-01	0	34	0	91	0	37	172
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T	rs369560899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000374434.3	-	37	4408	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567																																						ENST00000374434.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.981386	0.980000	0.990000																										0				68						c.(4246-4248)Gag>Aag		myomesin 3		C	LYS/GLU	0,4152		0,0,2076	87.0	87.0	87.0		4246	5.2	0.9	1		87	1,8385		0,1,4192	no	missense	MYOM3	NM_152372.3	56	0,1,6268	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1416/1438	24383922	1,12537	2076	4193	6269	SO:0001583	missense	127294	7	120988	41				g.chr1:24383922C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4246G>A	chr1.hg19:g.24383922C>T	ENSP00000363557:p.Glu1416Lys	1					MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA	p.E1416K	NM_152372.3	NP_689585.3	0	1	1	1.828421	Q5VTT5	MYOM3_HUMAN		37	4408	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	1	1	hg19	c.4246G>A	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.247414	0.95305	0.0	1.19E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	5.24	5.24	0.73138	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059545	0.64402	D	0.000003	T	0.73418	0.3584	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.66716	0.946;0.216	T	0.66897	-0.5807	10	0.13470	T	0.59	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	1416;309	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	309;1416;1419;310	ENSP00000342689:E309K;ENSP00000363557:E1416K;ENSP00000332670:E1419K	ENSP00000332670:E1419K	E	-	1	0	0	MYOM3	24256509	24256509	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	4.683000	0.61679	2.436000	0.82500	0.655000	0.94253	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-4.821327	1	0.170000	NM_152372			59	58		167	164	1		1	1		0	0	51	0		1	6.605558e-01	0	4	0	4	0	59	167
SDCCAG8	10806	broad.mit.edu	37	1	243480090	243480090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000355875.4_Silent_p.S278S|SDCCAG8_ENST00000391846.1_Silent_p.S321S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	321	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)				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)		CACTAGTTTCCGTAAGGAGCA	0.398																																						ENST00000366541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(961-963)tcC>tcT		serologically defined colon cancer antigen 8							95.0	91.0	92.0					1																	243480090		2203	4300	6503	SO:0001819	synonymous_variant	10806	7	121412	39				g.chr1:243480090C>T	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.963C>T	chr1.hg19:g.243480090C>T		1					SDCCAG8_ENST00000355875.4_Silent_p.S278S|SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000343783.6_Silent_p.S176S	p.S321S	NM_006642.3	NP_006633.1	1	2	3	2.185793	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	9	1081	+	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)	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	1	1	hg19	c.963C>T	CCDS31075.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.459017	0	0.170000	NM_006642			52	50		274	271	1		1	1		0	0	55	0		1	9.997360e-01	0	13	0	54	0	52	274
MYOM3	127294	broad.mit.edu	37	1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000374434.3	-	20	2663	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	834	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627																																						ENST00000374434.3	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.907377	0.910000	0.990000																										0				68						c.(2500-2502)aCa>aTa		myomesin 3							57.0	63.0	61.0					1																	24406591		1950	4148	6098	SO:0001583	missense	127294	0	0					g.chr1:24406591G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2501C>T	chr1.hg19:g.24406591G>A	ENSP00000363557:p.Thr834Ile	1					RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.2_ENST00000439239.2_RNA	p.T834I	NM_152372.3	NP_689585.3	0	1	1	1.828421	Q5VTT5	MYOM3_HUMAN		20	2663	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	1	1	hg19	c.2501C>T	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587235	0.28268	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.59638	0.25;0.25;0.25	5.51	5.51	0.81932	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.63208	1.945	0.41796	D	0.989896	B;B	0.19817	0.026;0.039	B;B	0.28709	0.093;0.045	T	0.53556	-0.8422	10	0.33141	T	0.24	.	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	834;834	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	834;835;834	ENSP00000363557:T834I;ENSP00000332670:T835I;ENSP00000328415:T834I	ENSP00000328415:T834I	T	-	2	0	0	MYOM3	24279178	24279178	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	4.261000	0.58841	2.600000	0.87896	0.655000	0.94253	ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1		2	2	2	0		0	0	95		95	92	1	2.060000	-3.221884	1	0.170000	NM_152372			38	38		337	330	1		1	1		0	0	95	0		1	3.047226e-02	0	3	0	0	0	38	337
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000330966.7_Silent_p.S350S|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647																																						ENST00000374434.3	1.000000	0.630000	9.800000e-01	7.700000e-01	0.900000	0.881557	0.900000	0.990000																										0				68						c.(1045-1047)tcG>tcA		myomesin 3							29.0	34.0	32.0					1																	24419480		1985	4139	6124	SO:0001819	synonymous_variant	127294	0	0					g.chr1:24419480C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1047G>A	chr1.hg19:g.24419480C>T		1					MYOM3_ENST00000330966.7_Silent_p.S350S|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR	p.S349S	NM_152372.3	NP_689585.3	0	1	1	1.828421	Q5VTT5	MYOM3_HUMAN		10	1209	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	0	1	hg19	c.1047G>A	CCDS41281.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999930	1	0.170000	NM_152372			15	15		103	102	1		1	1		0	0	14	0		9.999028e-01	1.381794e-01	0	3	0	2	0	15	103
AKT3	10000	broad.mit.edu	37	1	244006483	244006483	+	De_novo_Start_InFrame	SNP	C	C	A	rs369553671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244006483C>A	ENST00000366539.1	-	0	190				AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000263826.5_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3						mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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)			GATGACTCCCCTCTGAGCCCC	0.478																																						ENST00000366539.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26								v-akt murine thymoma viral oncogene homolog 3							131.0	124.0	127.0					1																	244006483		2203	4300	6503			10000	0	0					g.chr1:244006483C>A	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		chr1.hg19:g.244006483C>A		1					AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame|AKT3_ENST00000263826.5_De_novo_Start_InFrame				1	2	3	2.185793	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)	0	190	-	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)	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Translation_Start_Site	SNP	ENST00000366539.1	0	1	hg19		CCDS31077.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-2.966642	1	0.170000	NM_181690			62	61		407	404	0		1	0		0	0	72	0		1	9.955781e-01	0	0	0	56	0	62	407
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											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)			TTTGATTTCCGTAAACATGTC	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0					ENST00000366535.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1108-1110)aCg>aTg		adenylosuccinate synthase							91.0	83.0	86.0					1																	244579342		2203	4299	6502	SO:0001583	missense	159	4	121408	37				g.chr1:244579342G>A	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.1109C>T	chr1.hg19:g.244579342G>A	ENSP00000355493:p.Thr370Met	1					ADSS_ENST00000462358.1_5'Flank	p.T370M	NM_001126.3	NP_001117.2	1	2	3	2.185793			all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)	11	1425	-	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)		Missense_Mutation	SNP	ENST00000366535.3	1	1	hg19	c.1109C>T	CCDS1624.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	0	ADSS	242645965	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-5.774373	1	0.170000	NM_001126			67	67		174	172	1		1	1		0	0	46	0		1	1	0	72	0	276	0	67	174
C1orf101	257044	broad.mit.edu	37	1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	495						CatSper complex (GO:0036128)				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)			TCAAATGACAGCATTATTCAT	0.328																																						ENST00000366534.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1483-1485)aGc>aAc		chromosome 1 open reading frame 101							83.0	83.0	83.0					1																	244724424		2203	4300	6503	SO:0001583	missense	257044	0	0					g.chr1:244724424G>A	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.1484G>A	chr1.hg19:g.244724424G>A	ENSP00000355492:p.Ser495Asn	1					C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	p.S495N	NM_001130957.1	NP_001124429.1	1	2	3	2.185793	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)	10	1538	+	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)		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	1	1	hg19	c.1484G>A	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478964	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.95	4.02	0.46733	4.95	4.02	0.46733	.	0.284401	0.30732	N	0.008986	T	0.37265	0.0997	L	0.59436	1.845	0.21652	N	0.999608	D;D;D;D	0.76494	0.999;0.996;0.999;0.965	D;D;D;P	0.74023	0.982;0.923;0.951;0.832	T	0.06006	-1.0851	10	0.59425	D	0.04	.	8.5598	0.33503	0.1052:0.0:0.8948:0.0	.	415;495;495;344	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	495;495;495;415;344	ENSP00000355492:S495N;ENSP00000355491:S495N;ENSP00000395796:S415N;ENSP00000355489:S344N	ENSP00000355489:S344N	S	+	2	0	0	C1orf101	242791047	242791047	0.970000	0.33590	0.629000	0.29254	0.201000	0.24016	3.323000	0.52014	2.439000	0.82584	0.563000	0.77884	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_173807			115	113		345	340	1		1			0	0	114	0		1	0	0	0	0	0	0	115	345
PANK4	55229	broad.mit.edu	37	1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000435556.3_Intron|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	139					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597																																						ENST00000378466.3	1.000000	0.760000	9.900000e-01	8.500000e-01	0.930000	0.923912	0.930000	0.990000																										0				23						c.(415-417)Cgg>Tgg		pantothenate kinase 4							85.0	80.0	82.0					1																	2452547		2203	4300	6503	SO:0001583	missense	55229	0	0					g.chr1:2452547G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.415C>T	chr1.hg19:g.2452547G>A	ENSP00000367727:p.Arg139Trp	1					PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Intron	p.R139W	NM_018216.1	NP_060686.1	0	1	1	1.838767	Q9NVE7	PANK4_HUMAN		3	427	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	1	1	hg19	c.415C>T	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225634	0.58668	.	.	ENSG00000157881	ENST00000378466	D	0.99527	-6.09	5.05	3.15	0.36227	5.05	3.15	0.36227	.	1.063610	0.07258	N	0.866933	D	0.98273	0.9428	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.49301	0.606	D	0.93676	0.6994	10	0.87932	D	0	-7.9242	10.0179	0.42024	0.0:0.4167:0.4491:0.1343	.	139	Q9NVE7	PANK4_HUMAN	W	139	ENSP00000367727:R139W	ENSP00000367727:R139W	R	-	1	2	2	PANK4	2442407	2442407	0.112000	0.22096	0.637000	0.29366	0.859000	0.49053	2.617000	0.46385	0.510000	0.28216	-0.261000	0.10672	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-3.318794	1	0.170000				47	47		405	400	1		1	1		0	0	87	0		1	9.993696e-01	0	16	0	80	0	47	405
HNRNPU	3192	broad.mit.edu	37	1	245027598	245027598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000283179.9	-	1	175	c.12G>A	c.(10-12)tcG>tcA	p.S4S	HNRNPU_ENST00000444376.2_Silent_p.S4S|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000283179.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(10-12)tcG>tcA		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							24.0	28.0	26.0					1																	245027598		2200	4294	6494	SO:0001819	synonymous_variant	3192	1	121322	24				g.chr1:245027598C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.12G>A	chr1.hg19:g.245027598C>T		1					RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Silent_p.S4S	p.S4S			1	2	3	2.185793	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)	1	175	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	1	1	hg19	c.12G>A	CCDS41479.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_031844			41	41		164	163	1		1	1		0	0	27	0		1	1	0	80	0	159	0	41	164
KIF26B	55083	broad.mit.edu	37	1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A	rs538698748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	261					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662																																						ENST00000407071.2	1.000000	0.490000	1	7.600000e-01	0.990000	0.916999	0.990000	1.000000																										0				51						c.(781-783)Gcc>Acc		kinesin family member 26B																																				SO:0001583	missense	55083	7	120840	32				g.chr1:245530451G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.781G>A	chr1.hg19:g.245530451G>A	ENSP00000385545:p.Ala261Thr	1					KIF26B_ENST00000479506.1_3'UTR	p.A261T	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	3	1221	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	0	1	hg19	c.781G>A	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647193	0.29246	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.57	2.53	0.30540	5.57	2.53	0.30540	.	0.464285	0.18794	N	0.131000	T	0.63651	0.2529	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.25105	0.118;0.103	B;B	0.14578	0.011;0.01	T	0.54009	-0.8357	10	0.37606	T	0.19	.	9.0255	0.36227	0.1336:0.2209:0.6455:0.0	.	261;261	B4DF75;Q2KJY2	.;KI26B_HUMAN	T	261	ENSP00000385545:A261T	ENSP00000385545:A261T	A	+	1	0	0	KIF26B	243597074	243597074	0.000000	0.05858	0.722000	0.30670	0.790000	0.44656	-0.060000	0.11712	1.353000	0.45828	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-11.166560	1	0.170000	XM_371354			6	6		64	64	1		1	1		0	0	11	0		9.672288e-01	8.299979e-01	0	4	0	33	0	6	64
KIF26B	55083	broad.mit.edu	37	1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	267					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				51						c.(799-801)aaA>aaC		kinesin family member 26B							25.0	34.0	31.0					1																	245530471		1996	4166	6162	SO:0001583	missense	55083	0	0					g.chr1:245530471A>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.801A>C	chr1.hg19:g.245530471A>C	ENSP00000385545:p.Lys267Asn	1					KIF26B_ENST00000479506.1_3'UTR	p.K267N	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	3	1241	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	0	1	hg19	c.801A>C	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038421	0.55003	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.75	0.452	0.16634	5.75	0.452	0.16634	.	0.751547	0.12006	N	0.508288	D	0.82467	0.5043	M	0.62723	1.935	0.80722	D	1	P;D	0.60575	0.932;0.988	B;P	0.52957	0.445;0.714	T	0.80710	-0.1261	10	0.87932	D	0	.	10.5632	0.45156	0.7217:0.0:0.2783:0.0	.	267;267	B4DF75;Q2KJY2	.;KI26B_HUMAN	N	267	ENSP00000385545:K267N	ENSP00000385545:K267N	K	+	3	2	2	KIF26B	243597094	243597094	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.715000	0.25822	0.133000	0.18654	0.533000	0.62120	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-13.162710	1	0.170000	XM_371354			15	15		52	51	1		1	1		0	0	11	0		9.999281e-01	9.982846e-01	0	15	0	27	0	15	52
KIF26B	55083	broad.mit.edu	37	1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000407071.2	+	12	3617	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K678N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1059					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				51						c.(3175-3177)aaG>aaT		kinesin family member 26B							17.0	22.0	21.0					1																	245849462		2024	4151	6175	SO:0001583	missense	55083	0	0					g.chr1:245849462G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3177G>T	chr1.hg19:g.245849462G>T	ENSP00000385545:p.Lys1059Asn	1					KIF26B_ENST00000366518.4_Missense_Mutation_p.K678N	p.K1059N	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	3617	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	1	1	hg19	c.3177G>T	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860041	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.32	5.77	4.86	0.63082	5.77	4.86	0.63082	.	.	.	.	.	D	0.86197	0.5875	M	0.75447	2.3	0.50632	D	0.999884	D;D	0.89917	0.999;1.0	D;D	0.69307	0.922;0.963	D	0.83558	0.0105	9	0.30078	T	0.28	.	8.3751	0.32438	0.2115:0.0:0.7885:0.0	.	678;1059	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1059;678;675	ENSP00000385545:K1059N;ENSP00000355475:K678N	ENSP00000355475:K678N	K	+	3	2	2	KIF26B	243916085	243916085	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.502000	0.53332	2.744000	0.94065	0.561000	0.74099	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-20.000000	1	0.170000	XM_371354			36	31		211	182	0		1	1		0	0	37	0		1	9.530522e-01	0	7	0	25	0	36	211
KIF26B	55083	broad.mit.edu	37	1	245849753	245849753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000407071.2	+	12	3908	c.3468G>A	c.(3466-3468)caG>caA	p.Q1156Q	KIF26B_ENST00000366518.4_Silent_p.Q775Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1156					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3466-3468)caG>caA		kinesin family member 26B							54.0	64.0	60.0					1																	245849753		2163	4247	6410	SO:0001819	synonymous_variant	55083	0	0					g.chr1:245849753G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3468G>A	chr1.hg19:g.245849753G>A		1					KIF26B_ENST00000366518.4_Silent_p.Q775Q	p.Q1156Q	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	3908	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	1	1	hg19	c.3468G>A	CCDS44342.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.397645	1	0.170000	XM_371354			105	104		468	462	1		1	1		0	0	90	0		1	9.916254e-01	0	6	0	29	0	105	468
KIF26B	55083	broad.mit.edu	37	1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A	rs371194278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000407071.2	+	12	4182	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V867I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1248					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18867	0.0		0.0	False		,,,				2504	0.001					ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3742-3744)Gtc>Atc		kinesin family member 26B		G	ILE/VAL	0,4304		0,0,2152	31.0	37.0	35.0		3742	5.8	0.8	1		35	1,8499		0,1,4249	no	missense	KIF26B	NM_018012.3	29	0,1,6401	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	1248/2109	245850027	1,12803	2152	4250	6402	SO:0001583	missense	55083	5	121162	34				g.chr1:245850027G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3742G>A	chr1.hg19:g.245850027G>A	ENSP00000385545:p.Val1248Ile	1					KIF26B_ENST00000366518.4_Missense_Mutation_p.V867I	p.V1248I	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	4182	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	1	1	hg19	c.3742G>A	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950125	0.34377	0.0	1.18E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.77	5.77	0.91146	5.77	5.77	0.91146	.	.	.	.	.	T	0.69878	0.3160	L	0.40543	1.245	0.38325	D	0.943622	B;B	0.33379	0.41;0.123	B;B	0.17098	0.017;0.013	T	0.70219	-0.4932	9	0.37606	T	0.19	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	867;1248	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1248;867;864	ENSP00000385545:V1248I;ENSP00000355475:V867I	ENSP00000355475:V867I	V	+	1	0	0	KIF26B	243916650	243916650	1.000000	0.71417	0.777000	0.31699	0.274000	0.26718	5.310000	0.65780	2.744000	0.94065	0.561000	0.74099	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	XM_371354			31	31		106	105	1		1	1		0	0	25	0		1	9.929552e-01	0	11	0	19	0	31	106
KIF26B	55083	broad.mit.edu	37	1	245850356	245850356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000407071.2	+	12	4511	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	KIF26B_ENST00000366518.4_Silent_p.I976I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1357					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(4069-4071)atC>atT		kinesin family member 26B							59.0	64.0	62.0					1																	245850356		2054	4196	6250	SO:0001819	synonymous_variant	55083	0	0					g.chr1:245850356C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4071C>T	chr1.hg19:g.245850356C>T		1					KIF26B_ENST00000366518.4_Silent_p.I976I	p.I1357I	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	4511	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	1	1	hg19	c.4071C>T	CCDS44342.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	XM_371354			30	30		111	109	1		1	1		0	0	32	0		1	9.988936e-01	0	13	0	30	0	30	111
KIF26B	55083	broad.mit.edu	37	1	245850742	245850742	+	Missense_Mutation	SNP	C	C	A	rs201038043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	ENST00000407071.2	+	12	4897	c.4457C>A	c.(4456-4458)cCg>cAg	p.P1486Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1105Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1486					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCCCAGTCCGGGAGACAGG	0.627																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				51						c.(4456-4458)cCg>cAg		kinesin family member 26B							23.0	28.0	27.0					1																	245850742		2147	4254	6401	SO:0001583	missense	55083	0	0					g.chr1:245850742C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4457C>A	chr1.hg19:g.245850742C>A	ENSP00000385545:p.Pro1486Gln	1					KIF26B_ENST00000366518.4_Missense_Mutation_p.P1105Q	p.P1486Q	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	4897	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	1	1	hg19	c.4457C>A	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218975	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.0	5.42	5.42	0.78866	5.42	5.42	0.78866	.	.	.	.	.	T	0.64091	0.2567	N	0.22421	0.69	0.09310	N	1	B;B	0.30193	0.272;0.128	B;B	0.24269	0.052;0.052	T	0.50725	-0.8794	9	0.19590	T	0.45	.	13.8387	0.63426	0.0:0.9263:0.0:0.0737	.	1105;1486	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1486;1105;1102	ENSP00000385545:P1486Q;ENSP00000355475:P1105Q	ENSP00000355475:P1105Q	P	+	2	0	0	KIF26B	243917365	243917365	0.000000	0.05858	0.006000	0.13384	0.339000	0.28857	0.880000	0.28159	2.700000	0.92200	0.561000	0.74099	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-11.892550	1	0.170000	XM_371354			13	13		45	42	1		1	1		0	0	12	0		9.996299e-01	9.999478e-01	0	21	0	51	0	13	45
GRHL3	57822	broad.mit.edu	37	1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000350501.5	+	4	612	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.S162N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	162					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597																																						ENST00000350501.5	1.000000	0.790000	9.900000e-01	8.700000e-01	0.940000	0.936420	0.940000	0.990000																										0				20						c.(484-486)aGc>aAc		grainyhead-like 3 (Drosophila)							84.0	93.0	90.0					1																	24663190		2203	4300	6503	SO:0001583	missense	57822	0	0					g.chr1:24663190G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.485G>A	chr1.hg19:g.24663190G>A	ENSP00000288955:p.Ser162Asn	1					GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000361548.4_Missense_Mutation_p.S162N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000530984.1_3'UTR	p.S162N	NM_198174.2	NP_937817.3	0	1	1	1.828421	Q8TE85	GRHL3_HUMAN		4	612	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	1	1	hg19	c.485G>A	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594031	0.46214	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12984	2.89;2.63;2.87;2.88;2.88	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.562092	0.19630	N	0.109684	T	0.14485	0.0350	L	0.56769	1.78	0.28519	N	0.913146	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.16722	0.007;0.016;0.016	T	0.09271	-1.0682	10	0.24483	T	0.36	-22.351	9.0793	0.36542	0.0774:0.1595:0.7631:0.0	.	116;167;162	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	162;69;162;116;167	ENSP00000354943:S162N;ENSP00000340543:S69N;ENSP00000288955:S162N;ENSP00000348333:S116N;ENSP00000236255:S167N	ENSP00000236255:S167N	S	+	2	0	0	GRHL3	24535777	24535777	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.489000	0.35562	2.865000	0.98341	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-19.947100	1	0.170000	NM_021180			69	69		612	610	0		1	0		0	0	151	0		1	2.959563e-02	0	0	0	3	0	69	612
KIF26B	55083	broad.mit.edu	37	1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000407071.2	+	12	5737	c.5297C>T	c.(5296-5298)gCg>gTg	p.A1766V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1385V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1766	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706																																						ENST00000407071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(5296-5298)gCg>gTg		kinesin family member 26B							10.0	11.0	11.0					1																	245851582		1509	3329	4838	SO:0001583	missense	55083	7	115976	35				g.chr1:245851582C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5297C>T	chr1.hg19:g.245851582C>T	ENSP00000385545:p.Ala1766Val	1					KIF26B_ENST00000366518.4_Missense_Mutation_p.A1385V	p.A1766V	NM_018012.3	NP_060482.2	1	2	3	2.185793	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)	12	5737	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	1	1	hg19	c.5297C>T	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938823	0.34189	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.44	5.44	0.79542	5.44	5.44	0.79542	.	.	.	.	.	T	0.63367	0.2505	L	0.27053	0.805	0.33178	D	0.549156	P;P	0.36483	0.555;0.555	B;B	0.21151	0.033;0.023	T	0.67711	-0.5600	9	0.15952	T	0.53	.	19.256	0.93945	0.0:1.0:0.0:0.0	.	1385;1766	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1766;1385;1382	ENSP00000385545:A1766V;ENSP00000355475:A1385V	ENSP00000355475:A1385V	A	+	2	0	0	KIF26B	243918205	243918205	0.999000	0.42202	0.884000	0.34674	0.396000	0.30629	5.894000	0.69806	2.561000	0.86390	0.462000	0.41574	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1		2	2	2	0		0	0	24		24	22	1	2.060000	-20.000000	1	0.170000	XM_371354			37	37		136	130	0		1	1		0	0	24	0		1	7.986996e-01	0	2	0	11	0	37	136
TFB2M	64216	broad.mit.edu	37	1	246707824	246707824	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	340					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)			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)			TTTACTCACCGTAAGTGGTCT	0.333																																						ENST00000366514.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1018-1020)Cgt>Tgt		transcription factor B2, mitochondrial							88.0	95.0	92.0					1																	246707824		2203	4300	6503	SO:0001630	splice_region_variant	64216	5	121408	39				g.chr1:246707824G>A	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.1019+1C>T	chr1.hg19:g.246707824G>A		1						p.R340C	NM_022366.2	NP_071761.1	1	2	3	2.185793	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)	7	1203	-	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)		Q9H626	Splice_Site	SNP	ENST00000366514.4	1	0	hg19	c.1018C>T	CCDS1627.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878893	0.33162	.	.	ENSG00000162851	ENST00000366514	T	0.32753	1.44	5.12	-1.46	0.08800	5.12	-1.46	0.08800	.	0.696260	0.12484	N	0.464829	T	0.37945	0.1022	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.26883	-1.0090	10	0.72032	D	0.01	0.5149	8.2217	0.31545	0.0852:0.0:0.2499:0.6649	.	340	Q9H5Q4	TFB2M_HUMAN	C	340	ENSP00000355471:R340C	ENSP00000355471:R340C	R	-	1	0	0	TFB2M	244774447	244774447	0.641000	0.27251	0.013000	0.15412	0.052000	0.14988	0.524000	0.22940	-0.013000	0.14199	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.319408	1	0.170000	NM_022366	Missense_Mutation		58	58		350	345	1		1	1		0	0	70	0		1	9.999713e-01	0	25	0	69	0	58	350
SCCPDH	51097	broad.mit.edu	37	1	246922335	246922335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246922335G>T	ENST00000366510.3	+	7	1071		c.e7-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTCTTGCAGGTGGCCAATT	0.413																																						ENST00000366510.3	0.630000	0.330000	5.600000e-01	4.000000e-01	0.470000	0.482729	0.470000	0.480000																										0				17						c.e7-1		saccharopine dehydrogenase (putative)							235.0	229.0	231.0					1																	246922335		2203	4300	6503	SO:0001630	splice_region_variant	51097	0	0					g.chr1:246922335G>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.696-1G>T	chr1.hg19:g.246922335G>T		1							NM_016002.2	NP_057086.2	1	2	3	2.185793	Q8NBX0	SCPDL_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	7	1071	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	Q8TAR0|Q9Y363	Splice_Site	SNP	ENST00000366510.3	1	1	hg19		CCDS31084.1	0	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543957	0.86022	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	6.05	6.05	0.98169	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SCCPDH	244988958	244988958	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.007000	0.88571	2.878000	0.98634	0.650000	0.86243	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	0	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-3.366408	1	0.170000	NM_016002	Intron		38	38		988	952	0		1	0		0	0	141	0		1	0	0	0	0	1	0	38	988
AHCTF1	25909	broad.mit.edu	37	1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000391829.2	-	33	6298	c.6175C>T	c.(6175-6177)Cgt>Tgt	p.R2059C	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2094C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2059	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCAATGAACGTTTTTGGCTT	0.383																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	0.720000	0.320000	6.200000e-01	4.000000e-01	0.500000	0.516371	0.500000	0.510000																										0				74						c.(6175-6177)Cgt>Tgt		AT hook containing transcription factor 1							223.0	191.0	202.0					1																	247013133		2203	4300	6503	SO:0001583	missense	25909	2	121412	33				g.chr1:247013133G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6175C>T	chr1.hg19:g.247013133G>A	ENSP00000375705:p.Arg2059Cys	1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2094C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C	p.R2059C			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	33	6298	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	1	1	hg19	c.6175C>T		0	.	.	.	.	.	.	.	.	.	.	G	6.668	0.491884	0.12702	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.84	-6.14	0.02111	5.84	-6.14	0.02111	.	1.881720	0.02109	N	0.054606	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.011	B;B	0.10450	0.005;0.002	T	0.20107	-1.0285	10	0.56958	D	0.05	4.6019	2.6008	0.04866	0.1314:0.319:0.2688:0.2807	.	2094;2059	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	2094;2068;2059	ENSP00000355464:R2094C;ENSP00000355465:R2068C;ENSP00000375705:R2059C	ENSP00000355465:R2068C	R	-	1	0	0	AHCTF1	245079756	245079756	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.163000	0.09997	-1.113000	0.02981	-0.795000	0.03280	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.849960	1	0.170000	NM_015446			23	22		565	552	0		1	1		0	0	110	0		9.999992e-01	9.948253e-01	0	14	0	190	0	23	565
AHCTF1	25909	broad.mit.edu	37	1	247013154	247013154	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013154T>C	ENST00000391829.2	-	33	6277	c.6154A>G	c.(6154-6156)Act>Gct	p.T2052A	AHCTF1_ENST00000366508.1_Missense_Mutation_p.T2087A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2052	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGACTTTCAGTCTTTTTTGTA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	0.360000	0.090000	2.900000e-01	1.400000e-01	0.200000	0.220349	0.200000	0.210000																										0				74						c.(6154-6156)Act>Gct		AT hook containing transcription factor 1							180.0	159.0	166.0					1																	247013154		2203	4300	6503	SO:0001583	missense	25909	0	0					g.chr1:247013154T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6154A>G	chr1.hg19:g.247013154T>C	ENSP00000375705:p.Thr2052Ala	1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T2087A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A	p.T2052A			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	33	6277	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	0	1	hg19	c.6154A>G		0	.	.	.	.	.	.	.	.	.	.	T	4.100	0.016618	0.07959	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.30448	1.53;1.53;1.53	5.84	0.298	0.15766	5.84	0.298	0.15766	.	0.749491	0.12556	N	0.458613	T	0.23410	0.0566	L	0.54323	1.7	0.09310	N	1	B;B	0.29988	0.264;0.172	B;B	0.28011	0.085;0.039	T	0.28038	-1.0056	10	0.16420	T	0.52	-2.1585	6.8913	0.24230	0.5443:0.068:0.0:0.3877	.	2087;2052	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	2087;2061;2052	ENSP00000355464:T2087A;ENSP00000355465:T2061A;ENSP00000375705:T2052A	ENSP00000355465:T2061A	T	-	1	0	0	AHCTF1	245079777	245079777	0.000000	0.05858	0.023000	0.16930	0.003000	0.03518	-0.072000	0.11486	-0.215000	0.10063	-0.266000	0.10368	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	113		113	125	1	2.060000	-2.976030	1	0.170000	NM_015446			9	9		565	546	0		1	1		0	0	113	0		9.933324e-01	7.149936e-01	0	3	0	152	0	9	565
AHCTF1	25909	broad.mit.edu	37	1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000391829.2	-	33	5783	c.5660T>G	c.(5659-5661)aTt>aGt	p.I1887S	AHCTF1_ENST00000366508.1_Missense_Mutation_p.I1922S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1887	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTTATAATTTCAACACT	0.299																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(5659-5661)aTt>aGt		AT hook containing transcription factor 1							47.0	50.0	49.0					1																	247013648		2188	4284	6472	SO:0001583	missense	25909	0	0					g.chr1:247013648A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5660T>G	chr1.hg19:g.247013648A>C	ENSP00000375705:p.Ile1887Ser	1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I1922S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S	p.I1887S			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	33	5783	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	1	1	hg19	c.5660T>G		1	.	.	.	.	.	.	.	.	.	.	A	4.158	0.027809	0.08054	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32023	1.47;1.48;1.48	5.51	4.38	0.52667	5.51	4.38	0.52667	.	0.533640	0.19487	N	0.113088	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.029;0.017	B;B;B	0.30316	0.114;0.009;0.004	T	0.25984	-1.0116	10	0.08381	T	0.77	-8.8873	5.734	0.18057	0.7059:0.1436:0.1505:0.0	.	748;1922;1887	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1922;1896;1887	ENSP00000355464:I1922S;ENSP00000355465:I1896S;ENSP00000375705:I1887S	ENSP00000355465:I1896S	I	-	2	0	0	AHCTF1	245080271	245080271	0.000000	0.05858	0.691000	0.30163	0.930000	0.56654	0.611000	0.24268	1.018000	0.39521	0.533000	0.62120	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	45		45	53	1	2.060000	-20.000000	1	0.170000	NM_015446			108	102		259	247	1		1	1		0	0	45	0		1	1	0	31	0	69	0	108	259
AHCTF1	25909	broad.mit.edu	37	1	247014214	247014214	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247014214A>C	ENST00000391829.2	-	33	5217	c.5094T>G	c.(5092-5094)ccT>ccG	p.P1698P	AHCTF1_ENST00000366508.1_Silent_p.P1733P|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.P1707P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1698	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGCTCACTAAAGGTATTGTTT	0.348																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	0.640000	0.230000	5.300000e-01	3.100000e-01	0.410000	0.427014	0.410000	0.400000																										0				74						c.(5092-5094)ccT>ccG		AT hook containing transcription factor 1							84.0	83.0	83.0					1																	247014214		2203	4300	6503	SO:0001819	synonymous_variant	25909	0	0					g.chr1:247014214A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5094T>G	chr1.hg19:g.247014214A>C		1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1733P|AHCTF1_ENST00000326225.3_Silent_p.P1707P	p.P1698P			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	33	5217	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	0	1	hg19	c.5094T>G		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	100		100	116	1	2.060000	-3.472020	1	0.170000	NM_015446			15	15		458	425	0		1	0		0	0	100	0		9.997862e-01	7.007495e-01	0	0	0	75	0	15	458
AHCTF1	25909	broad.mit.edu	37	1	247040288	247040288	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000391829.2	-	23	3024	c.2901C>A	c.(2899-2901)gcC>gcA	p.A967A	AHCTF1_ENST00000366508.1_Silent_p.A1002A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A976A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	967	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGCTTCAAGGCAGGCACAT	0.388																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(2899-2901)gcC>gcA		AT hook containing transcription factor 1							86.0	84.0	85.0					1																	247040288		2203	4300	6503	SO:0001819	synonymous_variant	25909	0	0					g.chr1:247040288G>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2901C>A	chr1.hg19:g.247040288G>T		1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1002A|AHCTF1_ENST00000326225.3_Silent_p.A976A	p.A967A			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	23	3024	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	1	1	hg19	c.2901C>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_015446			76	74		301	297	1		1	1		0	0	82	0		1	1	0	27	0	80	0	76	301
AHCTF1	25909	broad.mit.edu	37	1	247051761	247051761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247051761G>A	ENST00000391829.2	-	18	2326	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R770*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	735	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCAATTCGCTCTCCTAAC	0.408																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	0.660000	0.210000	5.300000e-01	2.900000e-01	0.390000	0.417035	0.390000	0.390000																										0				74						c.(2203-2205)Cga>Tga		AT hook containing transcription factor 1							92.0	88.0	89.0					1																	247051761		2203	4297	6500	SO:0001587	stop_gained	25909	0	0					g.chr1:247051761G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2203C>T	chr1.hg19:g.247051761G>A	ENSP00000375705:p.Arg735*	1					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R770*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*	p.R735*			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	18	2326	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	0	1	hg19	c.2203C>T		0	.	.	.	.	.	.	.	.	.	.	G	40	7.950270	0.98577	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.26	0.549	0.17213	5.26	0.549	0.17213	.	0.662265	0.15314	N	0.268929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.9514	7.5402	0.27733	0.0666:0.4772:0.3241:0.1321	.	.	.	.	X	770;744;735	.	ENSP00000355465:R744X	R	-	1	2	2	AHCTF1	245118384	245118384	0.291000	0.24352	0.064000	0.19789	0.978000	0.69477	1.627000	0.37050	-0.113000	0.11958	0.305000	0.20034	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.721801	1	0.170000	NM_015446			11	12		351	345	0		1	0		0	0	64	0		9.982377e-01	8.865065e-02	0	0	0	15	0	11	351
AHCTF1	25909	broad.mit.edu	37	1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000391829.2	-	2	216	c.93A>T	c.(91-93)gaA>gaT	p.E31D	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E66D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	31	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAAGCACAGATTCTAATGTTA	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000391829.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996304	0.990000	1.000000																										0				74						c.(91-93)gaA>gaT		AT hook containing transcription factor 1							75.0	70.0	72.0					1																	247081580		2203	4300	6503	SO:0001583	missense	25909	0	0					g.chr1:247081580T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.93A>T	chr1.hg19:g.247081580T>A	ENSP00000375705:p.Glu31Asp	1					AHCTF1_ENST00000366508.1_Missense_Mutation_p.E66D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D	p.E31D			1	2	3	2.185793	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	2	216	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	1	1	hg19	c.93A>T		1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966872	0.34659	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	T;T;T	0.32272	1.46;1.47;1.48	5.54	-1.94	0.07571	5.54	-1.94	0.07571	.	0.153579	0.56097	N	0.000030	T	0.09024	0.0223	N	0.08118	0	0.30697	N	0.750698	B;B	0.20368	0.044;0.033	B;B	0.22753	0.041;0.011	T	0.19877	-1.0292	10	0.07813	T	0.8	-17.0811	0.7897	0.01055	0.1864:0.1884:0.2585:0.3668	.	66;31	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	D	66;40;31;31	ENSP00000355464:E66D;ENSP00000355465:E40D;ENSP00000375705:E31D	ENSP00000355465:E40D	E	-	3	2	2	AHCTF1	245148203	245148203	0.936000	0.31750	0.996000	0.52242	0.971000	0.66376	-0.053000	0.11846	-0.206000	0.10203	-0.438000	0.05819	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-12.082510	1	0.170000	NM_015446			29	28		245	240	1		1	1		0	0	43	0		1	5.894800e-01	0	3	0	15	0	29	245
ZNF695	57116	broad.mit.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	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;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433																																						ENST00000339986.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(76-78)Cgg>Tgg		zinc finger protein 695							68.0	74.0	72.0					1																	247163304		2195	4293	6488	SO:0001583	missense	57116	4	121356	37				g.chr1:247163304G>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	chr1.hg19:g.247163304G>A	ENSP00000341236:p.Arg26Trp	1					ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W	p.R26W	NM_020394.4	NP_065127	1	2	3	2.185793	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)	2	223	-	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)	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	1	1	hg19	c.76C>T	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	2	ZNF695	245229927	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-6.114150	1	0.170000	NM_020394			106	106		298	293	1		1	0		0	0	80	0		1	2.852110e-01	0	0	0	4	0	106	298
ZNF124	7678	broad.mit.edu	37	1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000543802.2	-	4	1086	c.997C>A	c.(997-999)Ctt>Att	p.L333I	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000340684.6_Missense_Mutation_p.L271I|ZNF124_ENST00000491356.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	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)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCTTCCAAAGGGTACTAGCA	0.378																																						ENST00000543802.2	0.790000	0.280000	6.500000e-01	3.700000e-01	0.500000	0.518943	0.500000	0.480000																										0				14						c.(997-999)Ctt>Att		zinc finger protein 124							88.0	89.0	89.0					1																	247319927		2203	4300	6503	SO:0001583	missense	7678	0	0					g.chr1:247319927G>T	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.997C>A	chr1.hg19:g.247319927G>T	ENSP00000440365:p.Leu333Ile	1					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.L271I|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000472531.1_Intron	p.L333I			1	2	3	2.185793	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)	4	1086	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	1	1	hg19	c.997C>A		0	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381254	0.42207	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T;T	0.53857	0.6;0.6	0.689	-0.402	0.12404	0.689	-0.402	0.12404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72581	0.3478	M	0.92367	3.3	0.09310	N	1	P;D	0.62365	0.69;0.991	P;D	0.72982	0.484;0.979	T	0.59484	-0.7446	9	0.66056	D	0.02	.	4.9245	0.13887	0.2653:0.0:0.7347:0.0	.	333;271	Q15973;Q15973-4	ZN124_HUMAN;.	I	294;271;277;137	ENSP00000340749:L271I;ENSP00000440365:L277I	ENSP00000340749:L271I	L	-	1	0	0	ZNF124	245386550	245386550	0.177000	0.23109	0.000000	0.03702	0.745000	0.42441	0.673000	0.25203	-0.168000	0.10853	0.306000	0.20318	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.733888	1	0.170000	NM_003431			13	13		326	321	0		1	0		0	0	63	0		9.995121e-01	8.741673e-02	0	0	0	12	0	13	326
ZNF124	7678	broad.mit.edu	37	1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000543802.2	-	4	511	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q79P|ZNF124_ENST00000491356.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378																																						ENST00000543802.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(421-423)cAg>cCg		zinc finger protein 124							40.0	43.0	42.0					1																	247320502		2203	4300	6503	SO:0001583	missense	7678	1	121410	28				g.chr1:247320502T>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.422A>C	chr1.hg19:g.247320502T>G	ENSP00000440365:p.Gln141Pro	1					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q79P|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron	p.Q141P			1	2	3	2.185793	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)	4	511	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	1	1	hg19	c.422A>C		1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915547	0.17907	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18810	2.19	0.729	0.729	0.18266	0.729	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	M	0.81112	2.525	0.20307	N	0.999911	D;P	0.57899	0.981;0.514	P;B	0.54924	0.764;0.03	T	0.13764	-1.0497	9	0.72032	D	0.01	.	5.6554	0.17640	0.0:0.0:0.0:1.0	.	141;79	Q15973;Q15973-4	ZN124_HUMAN;.	P	102;79;85;85	ENSP00000340749:Q79P	ENSP00000340749:Q79P	Q	-	2	0	0	ZNF124	245387125	245387125	0.064000	0.20934	0.009000	0.14445	0.546000	0.35178	0.514000	0.22786	0.553000	0.29044	0.260000	0.18958	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_003431			80	80		189	186	1		1	1		0	0	50	0		1	9.089846e-01	0	3	0	9	0	80	189
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642																																						ENST00000294753.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1735-1737)cGt>cAt		zinc finger protein 496							45.0	45.0	45.0					1																	247463849		2203	4300	6503	SO:0001583	missense	84838	0	0					g.chr1:247463849C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1736G>A	chr1.hg19:g.247463849C>T	ENSP00000294753:p.Arg579His	1					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H	p.R579H	NM_032752.1	NP_116141.1	1	2	3	2.185793	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)	9	2200	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	1	1	hg19	c.1736G>A	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873351	0.72180	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08193	3.13;3.12	4.32	4.32	0.51571	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.25158	0.0611	M	0.88310	2.945	0.36444	D	0.865651	D;D	0.69078	0.994;0.997	P;P	0.54965	0.674;0.765	T	0.31081	-0.9956	10	0.62326	D	0.03	-40.1058	10.5324	0.44983	0.0:0.8032:0.1968:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	579;615	ENSP00000294753:R579H;ENSP00000355454:R615H	ENSP00000294753:R579H	R	-	2	0	0	ZNF496	245530472	245530472	0.992000	0.36948	1.000000	0.80357	0.957000	0.61999	0.839000	0.27586	2.388000	0.81334	0.591000	0.81541	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_032752			75	75		207	204	1		1	1		0	0	36	0		1	9.999391e-01	0	12	0	31	0	75	207
ZNF496	84838	broad.mit.edu	37	1	247463872	247463872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	571					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCAGGCGCTCGTGGCGGAGGA	0.647																																						ENST00000294753.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.996966	0.990000	1.000000																										0				36						c.(1711-1713)caC>caT		zinc finger protein 496							54.0	56.0	55.0					1																	247463872		2203	4300	6503	SO:0001819	synonymous_variant	84838	0	0					g.chr1:247463872G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1713C>T	chr1.hg19:g.247463872G>A		1					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.H607H	p.H571H	NM_032752.1	NP_116141.1	1	2	3	2.185793	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)	9	2177	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		Q8TBS2	Silent	SNP	ENST00000294753.4	1	1	hg19	c.1713C>T	CCDS1631.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_032752			37	37		323	320	1		1	1		0	0	60	0		1	9.681186e-01	0	4	0	47	0	37	323
ZNF496	84838	broad.mit.edu	37	1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	533					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGTCGTGCCGCTGGAAGGCC	0.622																																						ENST00000294753.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1597-1599)Cgg>Tgg		zinc finger protein 496							86.0	86.0	86.0					1																	247463988		2203	4300	6503	SO:0001583	missense	84838	0	0					g.chr1:247463988G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1597C>T	chr1.hg19:g.247463988G>A	ENSP00000294753:p.Arg533Trp	1					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W	p.R533W	NM_032752.1	NP_116141.1	1	2	3	2.185793	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)	9	2061	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	1	1	hg19	c.1597C>T	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017666	0.54576	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.30182	1.54;1.54	4.5	3.58	0.41010	4.5	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288637	0.25001	N	0.033912	T	0.42381	0.1200	L	0.34521	1.04	0.40433	D	0.979968	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.41448	-0.9508	10	0.87932	D	0	-32.0751	11.8952	0.52652	0.0:0.0:0.8243:0.1757	.	569;533	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	533;569	ENSP00000294753:R533W;ENSP00000355454:R569W	ENSP00000294753:R533W	R	-	1	2	2	ZNF496	245530611	245530611	0.000000	0.05858	0.963000	0.40424	0.174000	0.22865	-0.211000	0.09332	1.225000	0.43566	-0.182000	0.12963	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-5.164497	1	0.170000	NM_032752			147	148		468	462	1		1	1		0	0	91	0		1	9.999220e-01	0	6	0	40	0	147	468
ZNF496	84838	broad.mit.edu	37	1	247492622	247492622	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247492622G>A	ENST00000294753.4	-	3	723	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ZNF496_ENST00000366498.2_Silent_p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	87	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AACTGCTCCAGCACCAGCAGC	0.716																																						ENST00000294753.4	0.540000	0.170000	4.400000e-01	2.400000e-01	0.330000	0.345544	0.330000	0.330000																										0				36						c.(259-261)Ctg>Ttg		zinc finger protein 496							27.0	32.0	31.0					1																	247492622		2202	4299	6501	SO:0001819	synonymous_variant	84838	1	121390	29				g.chr1:247492622G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.259C>T	chr1.hg19:g.247492622G>A		1					ZNF496_ENST00000366498.2_Silent_p.L87L	p.L87L	NM_032752.1	NP_116141.1	1	2	3	2.185793	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)	3	723	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		Q8TBS2	Silent	SNP	ENST00000294753.4	0	1	hg19	c.259C>T	CCDS1631.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-10.200300	1	0.170000	NM_032752			11	11		427	421	0		1	0		0	0	82	0		9.982469e-01	7.216380e-02	0	0	0	16	0	11	427
NLRP3	114548	broad.mit.edu	37	1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000336119.3	+	1	795	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M	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	17	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)			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)			CCTGGAGGACCTGGAGGATGT	0.552																																						ENST00000336119.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(49-51)Ctg>Atg		NLR family, pyrin domain containing 3							46.0	46.0	46.0					1																	247582145		2203	4300	6503	SO:0001583	missense	114548	0	0					g.chr1:247582145C>A	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.49C>A	chr1.hg19:g.247582145C>A	ENSP00000337383:p.Leu17Met	1					NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M	p.L17M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	1	2	3	2.185793	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)	1	795	+	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)	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	1	1	hg19	c.49C>A	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631923	0.46944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.49	1.59	0.23543	4.49	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.232835	0.22666	N	0.057123	T	0.80639	0.4661	M	0.88241	2.94	0.26695	N	0.971287	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	6.5523	0.22442	0.0:0.6946:0.0:0.3054	.	17;17;17;17;17	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	17	ENSP00000375704:L17M;ENSP00000355453:L17M;ENSP00000337383:L17M;ENSP00000294752:L17M;ENSP00000355452:L17M;ENSP00000375703:L17M	ENSP00000337383:L17M	L	+	1	2	2	NLRP3	245648768	245648768	0.045000	0.20229	0.519000	0.27824	0.728000	0.41692	0.354000	0.20146	0.254000	0.21573	-0.258000	0.10820	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.062974	1	0.170000	NM_004895			44	44		219	218	1		1	0		0	0	42	0		1	3.389388e-01	0	0	0	7	0	44	219
NLRP3	114548	broad.mit.edu	37	1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000336119.3	+	3	2136	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T	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	464	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)			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)			CGGCCTCTGCGCCCACCTCTG	0.597																																						ENST00000336119.3	1.000000	0.590000	1	7.600000e-01	0.950000	0.903700	0.950000	1.000000																										0				142						c.(1390-1392)Gcc>Acc		NLR family, pyrin domain containing 3							28.0	28.0	28.0					1																	247588135		2203	4300	6503	SO:0001583	missense	114548	1	121408	36				g.chr1:247588135G>A	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.1390G>A	chr1.hg19:g.247588135G>A	ENSP00000337383:p.Ala464Thr	1					NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T	p.A464T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	1	2	3	2.185793	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)	3	2136	+	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)	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	1	1	hg19	c.1390G>A	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077163	0.08485	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.17	1.24	0.21308	4.17	1.24	0.21308	NACHT nucleoside triphosphatase (1);	0.811250	0.10970	N	0.613951	T	0.75064	0.3799	N	0.26162	0.8	0.09310	N	1	B;B;P;B;B	0.50528	0.299;0.424;0.936;0.092;0.07	B;B;B;B;B	0.42462	0.019;0.187;0.388;0.063;0.019	T	0.63756	-0.6565	10	0.14252	T	0.57	.	4.4665	0.11691	0.2042:0.1845:0.6113:0.0	.	464;464;464;464;464	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	464	ENSP00000375704:A464T;ENSP00000355453:A464T;ENSP00000337383:A464T;ENSP00000294752:A464T;ENSP00000355452:A464T;ENSP00000375703:A464T	ENSP00000337383:A464T	A	+	1	0	0	NLRP3	245654758	245654758	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	0.299000	0.22661	-0.165000	0.13383	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-19.999320	1	0.170000	NM_004895			18	17		224	221	0		1	0		0	0	40	0		9.999826e-01	2.693249e-01	0	0	0	13	0	18	224
NLRP3	114548	broad.mit.edu	37	1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000336119.3	+	3	2473	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A	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	576					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)			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)			TTGATTTTTGTTGTACGTTTC	0.473																																						ENST00000336119.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(1726-1728)gTt>gCt		NLR family, pyrin domain containing 3							61.0	58.0	59.0					1																	247588472		2203	4300	6503	SO:0001583	missense	114548	0	0					g.chr1:247588472T>C	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.1727T>C	chr1.hg19:g.247588472T>C	ENSP00000337383:p.Val576Ala	1					NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A	p.V576A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	1	2	3	2.185793	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)	3	2473	+	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)	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	1	1	hg19	c.1727T>C	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443189	0.25987	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	3.96	0.45880	3.96	3.96	0.45880	.	0.000000	0.48286	D	0.000199	T	0.77136	0.4086	L	0.52364	1.645	0.32027	N	0.599963	B;P;B;B;B	0.37141	0.125;0.584;0.178;0.094;0.057	B;B;B;B;B	0.39094	0.082;0.29;0.108;0.108;0.119	T	0.77694	-0.2492	10	0.26408	T	0.33	.	9.5208	0.39133	0.0:0.0:0.0:1.0	.	576;576;576;576;576	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	A	576	ENSP00000375704:V576A;ENSP00000355453:V576A;ENSP00000337383:V576A;ENSP00000294752:V576A;ENSP00000355452:V576A;ENSP00000375703:V576A	ENSP00000337383:V576A	V	+	2	0	0	NLRP3	245655095	245655095	0.856000	0.29760	0.997000	0.53966	0.875000	0.50365	2.006000	0.40874	2.024000	0.59613	0.533000	0.62120	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_004895			78	74		216	213	1		1	0		0	0	50	0		1	7.342884e-01	0	0	0	9	0	78	216
NLRP3	114548	broad.mit.edu	37	1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000336119.3	+	5	3133	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N	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	796					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)			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)			GTCCTCAGCAGCAACCAGAAG	0.557																																						ENST00000336119.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(2386-2388)aGc>aAc		NLR family, pyrin domain containing 3							131.0	121.0	125.0					1																	247597464		2203	4300	6503	SO:0001583	missense	114548	0	0					g.chr1:247597464G>A	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.2387G>A	chr1.hg19:g.247597464G>A	ENSP00000337383:p.Ser796Asn	1					NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N	p.S796N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	1	2	3	2.185793	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)	5	3133	+	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)	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	1	1	hg19	c.2387G>A	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096623	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93019	0.71;0.62;0.71;-3.15;0.62;-3.15	3.44	1.49	0.22878	3.44	1.49	0.22878	.	0.747174	0.12005	N	0.508408	D	0.87997	0.6319	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.002	T	0.76446	-0.2956	10	0.34782	T	0.22	.	7.3519	0.26695	0.2236:0.0:0.7764:0.0	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	N	796;796;796;739;796;739	ENSP00000375704:S796N;ENSP00000355453:S796N;ENSP00000337383:S796N;ENSP00000294752:S739N;ENSP00000355452:S796N;ENSP00000375703:S739N	ENSP00000337383:S796N	S	+	2	0	0	NLRP3	245664087	245664087	0.000000	0.05858	0.416000	0.26546	0.639000	0.38242	0.242000	0.18087	0.435000	0.26365	0.472000	0.43445	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004895			137	132		495	486	1		1	0		0	0	89	0		1	8.667686e-01	0	0	0	15	0	137	495
NLRP3	114548	broad.mit.edu	37	1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000336119.3	+	9	3823	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H	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	1026					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)			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)			GAAGAAAAGCCTGAGCTGACC	0.498																																						ENST00000336119.3	0.720000	0.270000	6.000000e-01	3.600000e-01	0.470000	0.485927	0.470000	0.450000																										0				142						c.(3076-3078)cCt>cAt		NLR family, pyrin domain containing 3							101.0	101.0	101.0					1																	247611772		2203	4300	6503	SO:0001583	missense	114548	0	0					g.chr1:247611772C>A	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.3077C>A	chr1.hg19:g.247611772C>A	ENSP00000337383:p.Pro1026His	1					NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H	p.P1026H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	1	2	3	2.185793	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)	9	3823	+	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)	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	1	1	hg19	c.3077C>A	CCDS1632.1	0	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270158	0.40194	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.76448	-0.89;-0.93;-0.89;-1.02;-0.93;-0.96	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.000000	0.42420	D	0.000708	D	0.86590	0.5969	M	0.78916	2.43	0.33699	D	0.614343	D;B;D;B;D	0.76494	0.999;0.298;0.999;0.268;0.998	D;B;D;B;P	0.69824	0.966;0.384;0.938;0.111;0.879	D	0.90259	0.4299	10	0.72032	D	0.01	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	1006;969;912;969;1026	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	1026;969;1026;912;969;969	ENSP00000375704:P1026H;ENSP00000355453:P969H;ENSP00000337383:P1026H;ENSP00000294752:P912H;ENSP00000355452:P969H;ENSP00000375703:P969H	ENSP00000337383:P1026H	P	+	2	0	0	NLRP3	245678395	245678395	0.944000	0.32072	0.967000	0.41034	0.372000	0.29890	2.457000	0.45005	2.779000	0.95612	0.637000	0.83480	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.409900	1	0.170000	NM_004895			15	13		400	389	0		1	0		0	0	81	0		9.998437e-01	1.663555e-01	0	0	0	19	0	15	400
OR2B11	127623	broad.mit.edu	37	1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(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)			AGTCTCCTCAGAGCCCCCTTC	0.458																																						ENST00000318749.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(913-915)Ctg>Atg		olfactory receptor, family 2, subfamily B, member 11							197.0	211.0	206.0					1																	247614372		2203	4300	6503	SO:0001583	missense	127623	0	0					g.chr1:247614372G>T		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.913C>A	chr1.hg19:g.247614372G>T	ENSP00000325682:p.Leu305Met	1						p.L305M	NM_001004492.1	NP_001004492.1	1	2	3	2.185793	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	1	936	-	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)	B2RP03	Missense_Mutation	SNP	ENST00000318749.6	1	1	hg19	c.913C>A	CCDS31090.1	1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328900	0.10956	.	.	ENSG00000177535	ENST00000318749	T	0.46451	0.87	5.09	4.18	0.49190	5.09	4.18	0.49190	.	0.000000	0.42053	D	0.000778	T	0.43897	0.1268	L	0.54863	1.705	0.09310	N	1	D	0.58620	0.983	P	0.50791	0.65	T	0.31364	-0.9946	10	0.40728	T	0.16	.	7.9045	0.29755	0.1816:0.0:0.8184:0.0	.	305	Q5JQS5	OR2BB_HUMAN	M	305	ENSP00000325682:L305M	ENSP00000325682:L305M	L	-	1	2	2	OR2B11	245680995	245680995	0.000000	0.05858	0.054000	0.19295	0.015000	0.08874	-0.423000	0.07034	1.523000	0.49018	0.643000	0.83706	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	1	0	1		2	2	2	0		0	0	309		309	305	1	2.060000	-20.000000	1	0.170000	NM_001004492			414	404		1247	1231	1		1			0	0	309	0		1	0	0	0	0	0	0	414	1247
OR2W5	441932	broad.mit.edu	37	1	247654784	247654784	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	ENST00000522351.1	+	0	415							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTTGTCATGTCCCATGACCG	0.612																																						ENST00000522351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39								olfactory receptor, family 2, subfamily W, member 5							102.0	92.0	95.0					1																	247654784		2203	4300	6503			441932	0	0					g.chr1:247654784T>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		chr1.hg19:g.247654784T>C		1									1	2	3	2.185793	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	0	415	+	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;0.222)	B9EH85	RNA	SNP	ENST00000522351.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_001004698			150	149		383	372	0		1			0	0	91	0		1	0	0	0	0	0	0	150	383
OR2W5	441932	broad.mit.edu	37	1	247654924	247654924	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	ENST00000522351.1	+	0	555							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGACGATGCAGCTCTCCCGGT	0.557																																						ENST00000522351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39								olfactory receptor, family 2, subfamily W, member 5							122.0	100.0	107.0					1																	247654924		2203	4300	6503			441932	0	0					g.chr1:247654924G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		chr1.hg19:g.247654924G>T		1									1	2	3	2.185793	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	0	555	+	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;0.222)	B9EH85	RNA	SNP	ENST00000522351.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001004698			112	110		431	425	0		1			0	0	77	0		1	0	0	0	0	0	0	112	431
OR2W5	441932	broad.mit.edu	37	1	247654999	247654999	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	ENST00000522351.1	+	0	630							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCTTGTGAGGAAACCATGC	0.572																																						ENST00000522351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39								olfactory receptor, family 2, subfamily W, member 5							139.0	140.0	139.0					1																	247654999		2203	4300	6503			441932	0	0					g.chr1:247654999G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		chr1.hg19:g.247654999G>A		1									1	2	3	2.185793	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	0	630	+	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;0.222)	B9EH85	RNA	SNP	ENST00000522351.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0		2	2	2	0		0	0	104		104	104	1	2.060000	-7.052225	1	0.170000	NM_001004698			204	199		592	573	0		1			0	0	104	0		1	0	0	0	0	0	0	204	592
OR2W5	441932	broad.mit.edu	37	1	247655213	247655213	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	ENST00000522351.1	+	0	844							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTACCTGAAGCCGGCCAACA	0.517																																						ENST00000522351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39								olfactory receptor, family 2, subfamily W, member 5							130.0	114.0	119.0					1																	247655213		2203	4300	6503			441932	0	0					g.chr1:247655213G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		chr1.hg19:g.247655213G>A		1									1	2	3	2.185793	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)	0	844	+	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;0.222)	B9EH85	RNA	SNP	ENST00000522351.1	1	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000	NM_001004698			196	190		539	527	0		1			0	0	118	0		1	0	0	0	0	0	0	196	539
NIPAL3	57185	broad.mit.edu	37	1	24782746	24782746	+	Silent	SNP	C	C	T	rs201215627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000374399.4	+	8	1124	c.756C>T	c.(754-756)acC>acT	p.T252T	NIPAL3_ENST00000003912.3_Silent_p.T170T|NIPAL3_ENST00000339255.2_Silent_p.T252T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	252						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552													c|||	3	0.000599042	0.0	0.0	5008	,	,		21141	0.003		0.0	False		,,,				2504	0.0					ENST00000374399.4	1.000000	0.980000	1	9.800000e-01	0.990000	0.997854	0.990000	1.000000																										0				14						c.(754-756)acC>acT		NIPA-like domain containing 3							448.0	397.0	414.0					1																	24782746		2203	4300	6503	SO:0001819	synonymous_variant	57185	25	121412	52				g.chr1:24782746C>T	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.756C>T	chr1.hg19:g.24782746C>T		1					NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000003912.3_Silent_p.T170T	p.T252T	NM_020448.4	NP_065181.1	0	1	1	1.828421	Q6P499	NPAL3_HUMAN		8	1124	+			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	1	1	hg19	c.756C>T	CCDS30631.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	3.023	-0.201377	0.06219	.	.	ENSG00000001461	ENST00000432012	.	.	.	5.49	-6.75	0.01738	5.49	-6.75	0.01738	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	-47.7037	0.1287	0.00072	0.2951:0.2109:0.1684:0.3256	.	.	.	.	C	31	.	.	R	+	1	0	0	NIPAL3	24655333	24655333	0.000000	0.05858	0.090000	0.20809	0.524000	0.34500	-4.210000	0.00273	-1.102000	0.03023	-0.993000	0.02533	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	0	0	1		2	2	2	0		0	0	406		406	400	1	2.060000	-3.576271	1	0.170000	NM_020448			401	394		1593	1556	1		1	1		0	0	406	0		1	9.999999e-01	0	43	0	47	0	401	1593
OR2C3	81472	broad.mit.edu	37	1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587																																						ENST00000366487.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				43						c.(388-390)Cca>Tca		olfactory receptor, family 2, subfamily C, member 3							66.0	67.0	67.0					1																	247695426		2203	4300	6503	SO:0001583	missense	81472	0	0					g.chr1:247695426G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.388C>T	chr1.hg19:g.247695426G>A	ENSP00000355443:p.Pro130Ser	1					GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	p.P130S	NM_198074.4	NP_932340	1	2	3	2.185793	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)	2	749	-	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;0.0242)	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	1	1	hg19	c.388C>T	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751204	0.69533	.	.	ENSG00000196242	ENST00000366487	T	0.01838	4.61	3.89	2.94	0.34122	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.14570	0.0352	H	0.97340	3.985	0.29354	N	0.865142	D	0.59357	0.985	P	0.54856	0.762	T	0.21724	-1.0237	10	0.87932	D	0	.	10.5643	0.45163	0.0:0.0:0.8055:0.1945	.	130	Q8N628	OR2C3_HUMAN	S	130	ENSP00000355443:P130S	ENSP00000355443:P130S	P	-	1	0	0	OR2C3	245762049	245762049	1.000000	0.71417	0.805000	0.32314	0.930000	0.56654	6.347000	0.73004	0.925000	0.37094	0.650000	0.86243	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_198074			28	27		161	159	1		1			0	0	56	0		1	0	0	0	0	0	0	28	161
OR13G1	441933	broad.mit.edu	37	1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	246						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)			TAGTAAAGGGTCACCACTGTG	0.448																																						ENST00000359688.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(736-738)Acc>Gcc		olfactory receptor, family 13, subfamily G, member 1							161.0	138.0	146.0					1																	247835608		2203	4300	6503	SO:0001583	missense	441933	0	0					g.chr1:247835608T>C	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.736A>G	chr1.hg19:g.247835608T>C	ENSP00000352717:p.Thr246Ala	1					RP11-634B7.4_ENST00000449298.1_RNA	p.T246A	NM_001005487.1	NP_001005487.1	1	2	3	2.185793	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)	1	757	-	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)		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	1	1	hg19	c.736A>G	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301627	0.05495	.	.	ENSG00000197437	ENST00000359688	T	0.38560	1.13	4.2	-1.62	0.08372	4.2	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.530450	0.15888	N	0.239683	T	0.25865	0.0630	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.27785	T	0.31	-38.9238	5.6071	0.17385	0.4267:0.143:0.0:0.4303	.	246	Q8NGZ3	O13G1_HUMAN	A	246	ENSP00000352717:T246A	ENSP00000352717:T246A	T	-	1	0	0	OR13G1	245902231	245902231	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.086000	0.11233	-0.381000	0.07882	-0.445000	0.05633	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	0	0	0		18	2	2	1		1	1	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_001005487			125	119		289	284	1		1			1	0	78	0		1	0	0	0	0	0	0	125	289
OR13G1	441933	broad.mit.edu	37	1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			CATGACCATGCTGAGCAAGGC	0.468																																						ENST00000359688.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(427-429)aGc>aAc		olfactory receptor, family 13, subfamily G, member 1							104.0	84.0	91.0					1																	247835916		2203	4300	6503	SO:0001583	missense	441933	0	0					g.chr1:247835916C>T	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.428G>A	chr1.hg19:g.247835916C>T	ENSP00000352717:p.Ser143Asn	1					RP11-634B7.4_ENST00000449298.1_RNA	p.S143N	NM_001005487.1	NP_001005487.1	1	2	3	2.185793	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)	1	449	-	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)		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	1	1	hg19	c.428G>A	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990006	0.18966	.	.	ENSG00000197437	ENST00000359688	T	0.38240	1.15	4.2	-0.109	0.13584	4.2	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.608395	0.14901	N	0.291811	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B	0.17465	0.022	B	0.21546	0.035	T	0.34054	-0.9844	10	0.72032	D	0.01	-16.9307	4.4	0.11381	0.1502:0.3193:0.4407:0.0898	.	143	Q8NGZ3	O13G1_HUMAN	N	143	ENSP00000352717:S143N	ENSP00000352717:S143N	S	-	2	0	0	OR13G1	245902539	245902539	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.641000	0.05434	-0.101000	0.12219	0.563000	0.77884	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_001005487			60	60		258	256	1		1			0	0	62	0		1	0	0	0	0	0	0	60	258
OR13G1	441933	broad.mit.edu	37	1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, 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)			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)			ATAGATTTTGGCAATGATGAT	0.438																																						ENST00000359688.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(133-135)gCc>gAc		olfactory receptor, family 13, subfamily G, member 1							91.0	75.0	81.0					1																	247836210		2203	4300	6503	SO:0001583	missense	441933	0	0					g.chr1:247836210G>T	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.134C>A	chr1.hg19:g.247836210G>T	ENSP00000352717:p.Ala45Asp	1					RP11-634B7.4_ENST00000449298.1_RNA	p.A45D	NM_001005487.1	NP_001005487.1	1	2	3	2.185793	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)	1	155	-	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)		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	1	1	hg19	c.134C>A	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357934	0.41801	.	.	ENSG00000197437	ENST00000359688	T	0.10573	2.86	4.33	2.46	0.29980	4.33	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.191895	0.25419	N	0.030802	T	0.16557	0.0398	M	0.64630	1.985	0.09310	N	1	P	0.40534	0.72	P	0.47705	0.555	T	0.05468	-1.0883	10	0.87932	D	0	-15.2952	6.4924	0.22123	0.3015:0.0:0.6985:0.0	.	45	Q8NGZ3	O13G1_HUMAN	D	45	ENSP00000352717:A45D	ENSP00000352717:A45D	A	-	2	0	0	OR13G1	245902833	245902833	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.215000	0.17562	0.577000	0.29470	-0.137000	0.14449	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_001005487			50	49		255	243	1		1			0	0	48	0		1	0	0	0	0	0	0	50	255
OR1C1	26188	broad.mit.edu	37	1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T	rs568460638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	161					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)			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)			GCTATTAGGACAGTATGCAGG	0.507																																						ENST00000408896.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(481-483)Gtc>Atc		olfactory receptor, family 1, subfamily C, member 1							71.0	69.0	69.0					1																	247921228		2084	4232	6316	SO:0001583	missense	26188	0	0					g.chr1:247921228C>T	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.481G>A	chr1.hg19:g.247921228C>T	ENSP00000386138:p.Val161Ile	1						p.V161I	NM_012353.2	NP_036485.2	1	2	3	2.185793	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)	1	754	-	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)	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	1	1	hg19	c.481G>A	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.662999	0.03428	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	-6.38	0.01957	3.19	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18718	0.0449	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.31110	-0.9955	9	0.72032	D	0.01	.	1.1296	0.01743	0.3319:0.3316:0.1089:0.2276	.	161	Q15619	OR1C1_HUMAN	I	161	ENSP00000386138:V161I	ENSP00000386138:V161I	V	-	1	0	0	OR1C1	245987851	245987851	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.647000	0.00860	-1.514000	0.01786	-1.099000	0.02127	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-20.000000	1	0.170000				48	48		149	148	1		1			0	0	39	0		1	0	0	0	0	0	0	48	149
OR14A16	284532	broad.mit.edu	37	1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(865-867)Ttg>Gtg		olfactory receptor, family 14, subfamily A, member 16							61.0	60.0	60.0					1																	247978167		2203	4300	6503	SO:0001583	missense	284532	0	0					g.chr1:247978167A>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.865T>G	chr1.hg19:g.247978167A>C	ENSP00000350248:p.Leu289Val	1						p.L289V	NM_001001966.1	NP_001001966.1	1	2	3	2.185793	Q8NHC5	O14AG_HUMAN		1	864	-			Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	1	1	hg19	c.865T>G	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258888	0.39896	.	.	ENSG00000196772	ENST00000357627	T	0.46451	0.87	3.69	-1.01	0.10169	3.69	-1.01	0.10169	.	0.462575	0.15624	U	0.252752	T	0.72415	0.3457	H	0.97983	4.12	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63111	-0.6710	10	0.66056	D	0.02	.	9.6549	0.39919	0.543:0.0:0.457:0.0	.	289	Q8NHC5	O14AG_HUMAN	V	289	ENSP00000350248:L289V	ENSP00000350248:L289V	L	-	1	2	2	OR14A16	246044790	246044790	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.549000	0.06041	-0.123000	0.11745	-0.344000	0.07964	TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	0	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001001966			48	48		225	221	1		1			0	0	46	0		1	0	0	0	0	0	0	48	225
OR14A16	284532	broad.mit.edu	37	1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(841-843)Acc>Gcc		olfactory receptor, family 14, subfamily A, member 16							63.0	62.0	62.0					1																	247978191		2203	4300	6503	SO:0001583	missense	284532	0	0					g.chr1:247978191T>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.841A>G	chr1.hg19:g.247978191T>C	ENSP00000350248:p.Thr281Ala	1						p.T281A	NM_001001966.1	NP_001001966.1	1	2	3	2.185793	Q8NHC5	O14AG_HUMAN		1	840	-			Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	1	1	hg19	c.841A>G	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353733	0.11182	.	.	ENSG00000196772	ENST00000357627	T	0.34472	1.36	3.69	-6.23	0.02052	3.69	-6.23	0.02052	GPCR, rhodopsin-like superfamily (1);	0.484707	0.16856	U	0.196758	T	0.13884	0.0336	N	0.17674	0.51	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.35076	-0.9803	10	0.07644	T	0.81	.	6.2342	0.20754	0.6221:0.1559:0.0:0.222	.	281	Q8NHC5	O14AG_HUMAN	A	281	ENSP00000350248:T281A	ENSP00000350248:T281A	T	-	1	0	0	OR14A16	246044814	246044814	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.457000	0.02374	-1.478000	0.01869	-1.447000	0.01057	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_001001966			49	49		224	218	1		1			0	0	48	0		1	0	0	0	0	0	0	49	224
OR11L1	391189	broad.mit.edu	37	1	248004781	248004781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004781G>A	ENST00000355784.2	-	1	473	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	140						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGCACAGAGCCCACGATGC	0.602																																						ENST00000355784.2	0.500000	0.140000	4.000000e-01	2.000000e-01	0.290000	0.308107	0.290000	0.270000																										0				57						c.(418-420)Ctc>Ttc		olfactory receptor, family 11, subfamily L, member 1							55.0	52.0	53.0					1																	248004781		2203	4300	6503	SO:0001583	missense	391189	0	0					g.chr1:248004781G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.418C>T	chr1.hg19:g.248004781G>A	ENSP00000348033:p.Leu140Phe	1						p.L140F	NM_001001959.1	NP_001001959.1	1	2	3	2.185793	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	473	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)			Missense_Mutation	SNP	ENST00000355784.2	0	1	hg19	c.418C>T	CCDS31098.1	0	.	.	.	.	.	.	.	.	.	.	G	4.231	0.041828	0.08196	.	.	ENSG00000197591	ENST00000355784	T	0.00227	8.5	4.42	-7.05	0.01573	4.42	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.993514	0.08150	N	0.990229	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.19418	-1.0306	10	0.59425	D	0.04	.	6.4674	0.21990	0.1077:0.5241:0.2248:0.1434	.	140	Q8NGX0	O11L1_HUMAN	F	140	ENSP00000348033:L140F	ENSP00000348033:L140F	L	-	1	0	0	OR11L1	246071404	246071404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.775000	0.01783	-1.397000	0.02068	-1.233000	0.01565	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	0	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-8.639247	1	0.170000	NM_001001959			9	9		400	389	0		1			0	0	74	0		9.935876e-01	0	0	0	0	0	0	9	400
OR11L1	391189	broad.mit.edu	37	1	248004962	248004962	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592																																						ENST00000355784.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(235-237)ccC>ccA		olfactory receptor, family 11, subfamily L, member 1							74.0	63.0	67.0					1																	248004962		2203	4300	6503	SO:0001819	synonymous_variant	391189	0	0					g.chr1:248004962G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.237C>A	chr1.hg19:g.248004962G>T		1						p.P79P	NM_001001959.1	NP_001001959.1	1	2	3	2.185793	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	292	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)			Silent	SNP	ENST00000355784.2	1	1	hg19	c.237C>A	CCDS31098.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_001001959			48	44		130	125	1		1			0	0	31	0		1	0	0	0	0	0	0	48	130
OR11L1	391189	broad.mit.edu	37	1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488																																						ENST00000355784.2	1.000000	0.470000	1	6.200000e-01	0.790000	0.799711	0.790000	1.000000																										0				57						c.(67-69)tgG>tgA		olfactory receptor, family 11, subfamily L, member 1							65.0	59.0	61.0					1																	248005130		2203	4300	6503	SO:0001587	stop_gained	391189	0	0					g.chr1:248005130C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.69G>A	chr1.hg19:g.248005130C>T	ENSP00000348033:p.Trp23*	1						p.W23*	NM_001001959.1	NP_001001959.1	1	2	3	2.185793	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	124	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)			Nonsense_Mutation	SNP	ENST00000355784.2	0	1	hg19	c.69G>A	CCDS31098.1	0	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381564	0.82792	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.2	4.2	0.49525	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4167	0.44327	0.0:0.9079:0.0:0.0921	.	.	.	.	X	23	.	ENSP00000348033:W23X	W	-	3	0	0	OR11L1	246071753	246071753	0.000000	0.05858	0.989000	0.46669	0.767000	0.43475	-0.051000	0.11885	2.331000	0.79229	0.543000	0.68304	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-19.025450	1	0.170000	NM_001001959			16	16		243	235	0		1			0	0	52	0		9.999241e-01	0	0	0	0	0	0	16	243
TRIM58	25893	broad.mit.edu	37	1	248031265	248031265	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	257						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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)			CTCTTCCCAGAAGTAAGGCTG	0.527																																						ENST00000366481.3	1.000000	0.610000	1	8.500000e-01	0.990000	0.946483	0.990000	1.000000																										0				63						c.(769-771)agA>agC		tripartite motif containing 58							95.0	89.0	91.0					1																	248031265		2203	4300	6503	SO:0001630	splice_region_variant	25893	0	0					g.chr1:248031265A>C	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.771-1A>C	chr1.hg19:g.248031265A>C		1					OR2W3_ENST00000537741.1_5'Flank	p.R257S	NM_015431.3	NP_056246.3	1	2	3	2.185793	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	5	819	+	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)	Q6B0H9	Splice_Site	SNP	ENST00000366481.3	0	1	hg19	c.771A>C	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257475	0.39896	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	5.12	1.62	0.23740	5.12	1.62	0.23740	.	0.246014	0.28683	N	0.014494	T	0.09555	0.0235	M	0.79805	2.47	0.33518	D	0.591953	P	0.40066	0.701	B	0.39840	0.311	T	0.09422	-1.0675	9	.	.	.	.	6.1537	0.20326	0.7052:0.0:0.2948:0.0	.	257	Q8NG06	TRI58_HUMAN	S	257	ENSP00000355437:R257S	.	R	+	3	2	2	TRIM58	246097888	246097888	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	1.983000	0.40648	0.482000	0.27582	-0.290000	0.09829	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-17.001360	1	0.170000	NM_015431	Missense_Mutation		11	12		114	112	0		1			0	0	19	0		9.985163e-01	0	0	0	0	0	0	11	114
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A	rs201811838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000360358.3	+	1	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.0					ENST00000360358.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A183S(1)	lung(1)	49						c.(547-549)Gcc>Acc		olfactory receptor, family 2, subfamily W, member 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	105.0	112.0		547	2.2	0.0	1		112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2W3	NM_001001957.2	58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	183/315	248059435	4,13002	2203	4300	6503	SO:0001583	missense	343171	22	121412	48				g.chr1:248059435G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.547G>A	chr1.hg19:g.248059435G>A	ENSP00000353516:p.Ala183Thr	1					OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	p.A183T	NM_001001957.2	NP_001001957.2	1	2	3	2.185793	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	547	+	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)		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	1	1	hg19	c.547G>A	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319015	0.41096	2.27E-4	3.49E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00130	8.69;8.69	5.28	2.22	0.28083	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	M	0.80332	2.49	0.09310	N	1	D	0.54047	0.964	P	0.51385	0.668	T	0.38564	-0.9655	10	0.66056	D	0.02	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	T	183	ENSP00000445853:A183T;ENSP00000353516:A183T	ENSP00000353516:A183T	A	+	1	0	0	OR2W3	246126058	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.222437	1	0.170000	NM_001001957			96	94		505	490	1		1			0	0	113	0		1	0	0	0	0	0	0	96	505
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000360358.3	+	1	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582																																						ENST00000360358.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(646-648)ctC>ctA		olfactory receptor, family 2, subfamily W, member 3							203.0	183.0	190.0					1																	248059536		2203	4300	6503	SO:0001819	synonymous_variant	343171	0	0					g.chr1:248059536C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>A	chr1.hg19:g.248059536C>A		1					OR2W3_ENST00000537741.1_Silent_p.L216L	p.L216L	NM_001001957.2	NP_001001957.2	1	2	3	2.185793	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	648	+	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)		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	1	1	hg19	c.648C>A	CCDS31099.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	0	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-20.000000	1	0.170000	NM_001001957			224	220		751	736	1		1			0	0	172	0		1	0	0	0	0	0	0	224	751
OR2T8	343172	broad.mit.edu	37	1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			ATGGAAAATGGGAGCTATACC	0.398																																						ENST00000319968.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(10-12)gGg>gTg		olfactory receptor, family 2, subfamily T, member 8							100.0	97.0	98.0					1																	248084330		2203	4300	6503	SO:0001583	missense	343172	0	0					g.chr1:248084330G>T		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.11G>T	chr1.hg19:g.248084330G>T	ENSP00000326225:p.Gly4Val	1						p.G4V	NM_001005522.1	NP_001005522.1	1	2	3	2.185793	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	11	+	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)		Missense_Mutation	SNP	ENST00000319968.4	1	1	hg19	c.11G>T	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585667	0.13749	.	.	ENSG00000177462	ENST00000319968	T	0.00346	8.01	3.65	-0.732	0.11147	3.65	-0.732	0.11147	.	1.218620	0.06205	U	0.683946	T	0.00144	0.0004	N	0.11560	0.145	0.20821	N	0.999847	B	0.17268	0.021	B	0.20767	0.031	T	0.24440	-1.0160	10	0.30854	T	0.27	.	0.4146	0.00447	0.2891:0.1369:0.3199:0.254	.	4	A6NH00	OR2T8_HUMAN	V	4	ENSP00000326225:G4V	ENSP00000326225:G4V	G	+	2	0	0	OR2T8	246150953	246150953	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.014000	0.12656	-0.050000	0.13356	0.603000	0.83216	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.827935	1	0.170000	NM_001005522			110	109		419	411	1		1			0	0	69	0		1	0	0	0	0	0	0	110	419
OR2L8	391190	broad.mit.edu	37	1	248112729	248112729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			CCTGCATGGACACCTGGGTCT	0.473																																						ENST00000357191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(568-570)gaC>gaT		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							128.0	57.0	81.0					1																	248112729		2203	4297	6500	SO:0001819	synonymous_variant	391190	0	0					g.chr1:248112729C>T	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.570C>T	chr1.hg19:g.248112729C>T		1					OR2L13_ENST00000366478.2_Intron	p.D190D	NM_001001963.1	NP_001001963.1	1	2	3	2.185793	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)	1	570	+	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)		Q6IF03	Silent	SNP	ENST00000357191.3	1	1	hg19	c.570C>T	CCDS31101.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	1	0	0		2	2	2	0		0	0	67		67	79	1	2.060000	-20.000000	1	0.170000				63	33		264	213	1		1			0	0	67	0		1	0	0	0	0	0	0	63	264
OR2L8	391190	broad.mit.edu	37	1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	196			G -> C (in dbSNP:rs4925788).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GTCTATGAGGGCACAGTGTTT	0.473																																						ENST00000357191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(586-588)gGc>gAc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							137.0	46.0	77.0					1																	248112746		2203	4289	6492	SO:0001583	missense	391190	2	121302	19				g.chr1:248112746G>A	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.587G>A	chr1.hg19:g.248112746G>A	ENSP00000349719:p.Gly196Asp	1					OR2L13_ENST00000366478.2_Intron	p.G196D	NM_001001963.1	NP_001001963.1	1	2	3	2.185793	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)	1	587	+	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)		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	0	1	hg19	c.587G>A	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	3.028	-0.200230	0.06219	.	.	ENSG00000196936	ENST00000357191	T	0.00091	8.74	1.21	-2.08	0.07254	1.21	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.581525	0.12962	U	0.424910	T	0.00039	0.0001	N	0.01640	-0.785	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.08310	-1.0728	10	0.35671	T	0.21	.	0.2585	0.00215	0.329:0.1455:0.2651:0.2604	.	196	Q8NGY9	OR2L8_HUMAN	D	196	ENSP00000349719:G196D	ENSP00000349719:G196D	G	+	2	0	0	OR2L8	246179369	246179369	0.000000	0.05858	0.701000	0.30321	0.651000	0.38670	-0.015000	0.12634	-0.726000	0.04895	0.479000	0.44913	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	0	0	0		2	2	2	0		0	0	49		49	60	1	2.060000	-20.000000	1	0.170000				50	15		204	139	1		1			0	0	49	0		1	0	0	0	0	0	0	50	204
OR2AK2	391191	broad.mit.edu	37	1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A	rs573037925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)			CTTCTCCTTGGTTTTATGTCT	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(391-393)gGt>gAt		olfactory receptor, family 2, subfamily AK, member 2							395.0	351.0	366.0					1																	248129025		2203	4300	6503	SO:0001583	missense	391191	0	0					g.chr1:248129025G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.392G>A	chr1.hg19:g.248129025G>A	ENSP00000355436:p.Gly131Asp	1					OR2L13_ENST00000366478.2_Intron	p.G131D	NM_001004491.1	NP_001004491.1	1	2	3	2.185793	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)	1	491	+	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)		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	1	1	hg19	c.392G>A	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801589	0.50315	.	.	ENSG00000187080	ENST00000366480	T	0.01347	4.99	3.03	-2.6	0.06190	3.03	-2.6	0.06190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04543	0.0124	M	0.77616	2.38	0.09310	N	1	D	0.64830	0.994	P	0.58210	0.835	T	0.19095	-1.0316	9	0.87932	D	0	.	5.9086	0.19014	0.1081:0.6127:0.1617:0.1175	.	131	Q8NG84	O2AK2_HUMAN	D	131	ENSP00000355436:G131D	ENSP00000355436:G131D	G	+	2	0	0	OR2AK2	246195648	246195648	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.134000	0.10436	-0.202000	0.10268	0.455000	0.32223	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	0	0	1		17	2	2	1		1	1	304		304	304	1	2.060000	-20.000000	1	0.170000	NM_001004491			348	339		1087	1066	1		1			1	0	304	0		1	0	0	0	0	0	0	348	1087
OR2L2	26246	broad.mit.edu	37	1	248202496	248202496	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, 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)			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)			AAATCTTCTCAGTGAAAATGT	0.438																																						ENST00000366479.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(925-927)tcA>tcG		olfactory receptor, family 2, subfamily L, member 2							63.0	62.0	63.0					1																	248202496		2203	4299	6502	SO:0001819	synonymous_variant	26246	5	121408	38				g.chr1:248202496A>G	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.927A>G	chr1.hg19:g.248202496A>G		1					OR2L13_ENST00000366478.2_Intron	p.S309S	NM_001004686.2	NP_001004686.1	1	2	3	2.185793	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)	1	1023	+	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)		Q2M3T5	Silent	SNP	ENST00000366479.2	1	1	hg19	c.927A>G	CCDS31103.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_001004686			71	69		404	393	1		1			0	0	103	0		1	0	0	0	0	0	0	71	404
OR2L13	284521	broad.mit.edu	37	1	248263566	248263566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000358120.2	+	2	1034	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000366478.2_Silent_p.L297L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(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)			TAAGGAAGTCCTGGGGGCTAT	0.473																																						ENST00000358120.2	0.690000	0.220000	5.500000e-01	3.000000e-01	0.410000	0.437265	0.410000	0.400000																										0				59						c.(889-891)Ctg>Ttg		olfactory receptor, family 2, subfamily L, member 13							53.0	55.0	54.0					1																	248263566		2203	4300	6503	SO:0001819	synonymous_variant	284521	0	0					g.chr1:248263566C>T	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.889C>T	chr1.hg19:g.248263566C>T		1					OR2L13_ENST00000366478.2_Silent_p.L297L	p.L297L			1	2	3	2.185793	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)	2	1034	+	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)		Q5VUR5	Silent	SNP	ENST00000358120.2	1	1	hg19	c.889C>T	CCDS1637.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.327148	1	0.170000	NM_175911			11	11		334	330	0		1			0	0	51	0		9.982917e-01	0	0	0	0	0	0	11	334
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453																																						ENST00000366476.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(355-357)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							311.0	305.0	307.0					1																	248308805		2203	4300	6503	SO:0001583	missense	127059	0	0					g.chr1:248308805C>A		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.356C>A	chr1.hg19:g.248308805C>A	ENSP00000355432:p.Ser119Tyr	1						p.S119Y	NM_001004690.1	NP_001004690.1	1	2	3	2.185793	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)	1	356	+	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)			Missense_Mutation	SNP	ENST00000366476.1	1	1	hg19	c.356C>A	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805259	0.31961	.	.	ENSG00000162727	ENST00000366476	T	0.52754	0.65	3.28	3.28	0.37604	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.68192	0.2974	H	0.94183	3.505	0.34401	D	0.695327	B	0.29188	0.236	B	0.41988	0.372	T	0.81239	-0.1023	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	Y	119	ENSP00000355432:S119Y	ENSP00000355432:S119Y	S	+	2	0	0	OR2M5	246375428	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	1	0	1		2	2	2	0		0	0	369		369	367	1	2.060000	-20.000000	1	0.170000	NM_001004690			320	314		1689	1643	1		1			0	0	369	0		1	0	0	0	0	0	0	320	1689
OR2M5	127059	broad.mit.edu	37	1	248308934	248308934	+	Missense_Mutation	SNP	C	C	T	rs77923536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308934C>T	ENST00000366476.1	+	1	485	c.485C>T	c.(484-486)gCg>gTg	p.A162V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GATGCTGTAGCGACATTTTCC	0.448													c|||	43	0.00858626	0.0008	0.0144	5008	,	,		20387	0.0109		0.0189	False		,,,				2504	0.002					ENST00000366476.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(484-486)gCg>gTg		olfactory receptor, family 2, subfamily M, member 5		C	VAL/ALA	25,4381	31.7+/-61.6	0,25,2178	275.0	259.0	265.0		485	0.7	0.0	1	dbSNP_131	265	221,8379	92.1+/-154.2	1,219,4080	no	missense	OR2M5	NM_001004690.1	64	1,244,6258	TT,TC,CC		2.5698,0.5674,1.8914	benign	162/313	248308934	246,12760	2203	4300	6503	SO:0001583	missense	127059	2341	121412	71				g.chr1:248308934C>T		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.485C>T	chr1.hg19:g.248308934C>T	ENSP00000355432:p.Ala162Val	1						p.A162V	NM_001004690.1	NP_001004690.1	1	2	3	2.185793	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)	1	485	+	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)			Missense_Mutation	SNP	ENST00000366476.1	1	0	hg19	c.485C>T	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	3.823	-0.037305	0.07497	0.005674	0.025698	ENSG00000162727	ENST00000366476	T	0.00031	8.89	3.28	0.678	0.17969	3.28	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.578183	0.12944	N	0.426355	T	0.00039	0.0001	N	0.04994	-0.135	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.08722	-1.0708	10	0.10902	T	0.67	.	1.0102	0.01495	0.146:0.2195:0.1482:0.4863	.	162	A3KFT3	OR2M5_HUMAN	V	162	ENSP00000355432:A162V	ENSP00000355432:A162V	A	+	2	0	0	OR2M5	246375557	246375557	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-0.556000	0.05992	-0.178000	0.10672	0.492000	0.49549	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	0	0	0		2	2	2	0		0	0	309		309	307	1	2.060000	-7.120604	1	0.170000	NM_001004690			267	263		1448	1409	1		1			0	0	309	0		1	0	0	0	0	0	0	267	1448
OR2M5	127059	broad.mit.edu	37	1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TACTGTGGGTCTCGGGAAATA	0.438																																						ENST00000366476.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(511-513)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							282.0	266.0	271.0					1																	248308961		2203	4298	6501	SO:0001583	missense	127059	0	0					g.chr1:248308961C>A		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.512C>A	chr1.hg19:g.248308961C>A	ENSP00000355432:p.Ser171Tyr	1						p.S171Y	NM_001004690.1	NP_001004690.1	1	2	3	2.185793	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)	1	512	+	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)			Missense_Mutation	SNP	ENST00000366476.1	1	1	hg19	c.512C>A	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	19.29	3.799247	0.70567	.	.	ENSG00000162727	ENST00000366476	T	0.38722	1.12	3.28	2.35	0.29111	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.879412	0.09254	U	0.827497	T	0.69160	0.3080	M	0.92691	3.335	0.09310	N	1	D	0.53312	0.959	P	0.62649	0.905	T	0.55134	-0.8188	10	0.87932	D	0	.	10.0254	0.42068	0.0:0.8936:0.0:0.1064	.	171	A3KFT3	OR2M5_HUMAN	Y	171	ENSP00000355432:S171Y	ENSP00000355432:S171Y	S	+	2	0	0	OR2M5	246375584	246375584	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	1.011000	0.29911	0.476000	0.27440	0.492000	0.49549	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	1	0	0		2	2	2	0		0	0	343		343	341	1	2.060000	-20.000000	1	0.170000	NM_001004690			241	239		1535	1481	1		1			0	0	343	0		1	0	0	0	0	0	0	241	1535
OR2T33	391195	broad.mit.edu	37	1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577																																						ENST00000318021.2	1.000000	0.750000	1	8.400000e-01	0.930000	0.929395	0.930000	1.000000																										0				67						c.(277-279)gCt>gAt		olfactory receptor, family 2, subfamily T, member 33							74.0	67.0	69.0					1																	248436839		2203	4297	6500	SO:0001583	missense	391195	0	0					g.chr1:248436839G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.278C>A	chr1.hg19:g.248436839G>T	ENSP00000324687:p.Ala93Asp	1						p.A93D	NM_001004695.1	NP_001004695.1	1	2	3	2.185793	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)	1	299	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	1	1	hg19	c.278C>A	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.307644	0.23821	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	2.7	0.31948	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00666	0.0022	M	0.70275	2.135	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.46992	-0.9151	10	0.56958	D	0.05	.	10.2203	0.43192	0.0:0.0:0.8002:0.1997	.	93	Q8NG76	O2T33_HUMAN	D	93	ENSP00000324687:A93D	ENSP00000324687:A93D	A	-	2	0	0	OR2T33	246503462	246503462	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.134000	0.10436	1.437000	0.47472	0.494000	0.49563	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	1	0	1		2	2	2	0		0	0	243		243	286	1	2.060000	-16.716510	1	0.170000	NM_001004695			87	42		1092	385	0		1			0	0	243	0		1	0	0	0	0	0	0	87	1092
OR2T12	127064	broad.mit.edu	37	1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547																																						ENST00000317996.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(619-621)gTc>gCc		olfactory receptor, family 2, subfamily T, member 12							46.0	40.0	42.0					1																	248458261		2202	4282	6484	SO:0001583	missense	127064	0	0					g.chr1:248458261A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.620T>C	chr1.hg19:g.248458261A>G	ENSP00000324583:p.Val207Ala	1						p.V207A	NM_001004692.1	NP_001004692.1	1	2	3	2.185793	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)	1	619	-	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)			Missense_Mutation	SNP	ENST00000317996.1	1	1	hg19	c.620T>C	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	a	9.021	0.984884	0.18889	.	.	ENSG00000177201	ENST00000317996	T	0.39229	1.09	1.55	0.167	0.15006	1.55	0.167	0.15006	GPCR, rhodopsin-like superfamily (1);	1.119980	0.07080	U	0.836949	T	0.28267	0.0698	N	0.17723	0.515	0.09310	N	1	B	0.23806	0.091	B	0.30716	0.119	T	0.40156	-0.9578	10	0.62326	D	0.03	.	4.0928	0.09976	0.5564:0.283:0.1606:0.0	.	207	Q8NG77	O2T12_HUMAN	A	207	ENSP00000324583:V207A	ENSP00000324583:V207A	V	-	2	0	0	OR2T12	246524884	246524884	0.000000	0.05858	0.021000	0.16686	0.193000	0.23685	-0.036000	0.12185	0.540000	0.28808	0.147000	0.16070	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	1	0	1		2	2	2	0		0	0	99		99	110	1	2.060000	-20.000000	1	0.170000	NM_001004692			135	62		373	148	0		1			0	0	99	0		1	0	0	0	0	0	0	135	373
OR14C36	127066	broad.mit.edu	37	1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507																																						ENST00000317861.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(409-411)Cga>Tga		olfactory receptor, family 14, subfamily C, member 36							99.0	86.0	91.0					1																	248512485		2203	4300	6503	SO:0001587	stop_gained	127066	1	121412	38				g.chr1:248512485C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.409C>T	chr1.hg19:g.248512485C>T	ENSP00000324534:p.Arg137*	1						p.R137*	NM_001001918.1	NP_001001918.1	1	2	3	2.185793	Q8NHC7	O14CZ_HUMAN		1	409	+			Q6IEZ6	Nonsense_Mutation	SNP	ENST00000317861.1	0	1	hg19	c.409C>T	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430346	0.62844	.	.	ENSG00000177174	ENST00000317861	.	.	.	4.05	1.93	0.25924	4.05	1.93	0.25924	.	1.246200	0.06113	N	0.667560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2541	0.49043	0.4719:0.5281:0.0:0.0	.	.	.	.	X	137	.	ENSP00000324534:R137X	R	+	1	2	2	OR14C36	246579108	246579108	0.000000	0.05858	0.001000	0.08648	0.715000	0.41141	-0.209000	0.09358	0.879000	0.35944	0.395000	0.25975	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-4.405488	1	0.170000	NM_001001918			82	82		254	246	1		1			0	0	67	0		1	0	0	0	0	0	0	82	254
RCAN3	11123	broad.mit.edu	37	1	24859587	24859587	+	Silent	SNP	C	C	T	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000412742.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	128					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562													C|||	36	0.0071885	0.0265	0.0014	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.0					ENST00000374395.4	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.931174	0.940000	0.990000																										0				7						c.(382-384)ggC>ggT		RCAN family member 3		C		84,4322	72.0+/-110.0	0,84,2119	56.0	49.0	51.0		384	-5.4	0.0	1	dbSNP_126	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RCAN3	NM_013441.2		0,85,6418	TT,TC,CC		0.0116,1.9065,0.6535		128/242	24859587	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	11123	224	121304	52				g.chr1:24859587C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.384C>T	chr1.hg19:g.24859587C>T		1					RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G	p.G128G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	0	1	1	1.828421	Q9UKA8	RCAN3_HUMAN		4	697	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Silent	SNP	ENST00000374395.4	1	0	hg19	c.384C>T	CCDS254.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2	0	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-3.627276	1	0.170000				24	23		133	125	1		1	1		0	0	32	0		9.999997e-01	9.989848e-01	0	21	0	43	0	24	133
OR2T4	127074	broad.mit.edu	37	1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATGGGGGCTCTGAAGAAA	0.408																																						ENST00000366475.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(994-996)gCt>gAt		olfactory receptor, family 2, subfamily T, member 4							108.0	114.0	112.0					1																	248525877		2203	4300	6503	SO:0001583	missense	127074	0	0					g.chr1:248525877C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.995C>A	chr1.hg19:g.248525877C>A	ENSP00000355431:p.Ala332Asp	1						p.A332D	NM_001004696.1	NP_001004696.1	1	2	3	2.185793	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)	1	995	+	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)		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	1	1	hg19	c.995C>A	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087079	0.36855	.	.	ENSG00000196944	ENST00000366475	T	0.46063	0.88	3.0	2.06	0.26882	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	M	0.89534	3.04	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.55768	-0.8089	10	0.87932	D	0	.	7.8187	0.29276	0.1828:0.6396:0.1776:0.0	.	332	Q8NH00	OR2T4_HUMAN	D	332	ENSP00000355431:A332D	ENSP00000355431:A332D	A	+	2	0	0	OR2T4	246592500	246592500	0.002000	0.14202	0.502000	0.27614	0.981000	0.71138	1.341000	0.33907	0.436000	0.26393	0.585000	0.79938	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	1	0	1		2	2	2	0		0	0	173		173	173	1	2.060000	-20.000000	1	0.170000	NM_001004696			131	129		705	693	1		1			0	0	173	0		1	0	0	0	0	0	0	131	705
OR2T3	343173	broad.mit.edu	37	1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTACCTGACCCTGGCTGGAGC	0.552																																						ENST00000359594.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(334-336)Ctg>Atg		olfactory receptor, family 2, subfamily T, member 3							129.0	117.0	121.0					1																	248636985		2194	4298	6492	SO:0001583	missense	343173	0	0					g.chr1:248636985C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.334C>A	chr1.hg19:g.248636985C>A	ENSP00000352604:p.Leu112Met	1						p.L112M	NM_001005495.1	NP_001005495.1	1	2	3	2.185793	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)	1	359	+	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)		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	1	1	hg19	c.334C>A	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457406	0.43634	.	.	ENSG00000196539	ENST00000359594	T	0.02525	4.26	2.22	-4.45	0.03546	2.22	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01316	-1.1387	9	0.54805	T	0.06	.	4.5458	0.12079	0.5484:0.258:0.0:0.1936	.	112	Q8NH03	OR2T3_HUMAN	M	112	ENSP00000352604:L112M	ENSP00000352604:L112M	L	+	1	2	2	OR2T3	246703608	246703608	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-5.284000	0.00135	-1.852000	0.01166	0.186000	0.17326	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	1	0	1		18	2	2	0		0	1	72		72	81	1	2.060000	-3.076222	1	0.170000	NM_001005495			63	62		378	363	1		1			0	0	72	0		1	0	0	0	0	0	0	63	378
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	rs138151830	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148						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)		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)			GGCCGGTGGAGCATGGCTCAG	0.577																																						ENST00000343414.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A148T(1)	lung(1)	61						c.(442-444)Gca>Aca		olfactory receptor, family 2, subfamily G, member 6							71.0	56.0	61.0					1																	248685389		2203	4300	6503	SO:0001583	missense	391211	26	121412	44				g.chr1:248685389G>A		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.442G>A	chr1.hg19:g.248685389G>A	ENSP00000341291:p.Ala148Thr	1						p.A148T	NM_001013355.1	NP_001013373.1	1	2	3	2.185793	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)	1	474	+	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)	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	1	1	hg19	c.442G>A	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	0	OR2G6	246752012	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.319859	1	0.170000	XM_372842			78	76		214	210	1		1			0	0	39	0		1	0	0	0	0	0	0	78	214
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACACTTCTTGCGGTTCATCAG	0.547																																						ENST00000330803.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(403-405)cGc>cAc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)		C	HIS/ARG	0,4104		0,0,2052	47.0	55.0	52.0		404	-5.7	0.0	1	dbSNP_134	52	1,8463		0,1,4231	no	missense	OR2T11	NM_001001964.1	29	0,1,6283	TT,TC,CC		0.0118,0.0,0.0080	benign	135/317	248790026	1,12567	2052	4232	6284	SO:0001583	missense	127077	4	118822	40				g.chr1:248790026C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.404G>A	chr1.hg19:g.248790026C>T	ENSP00000328934:p.Arg135His	1						p.R135H	NM_001001964.1	NP_001001964.1	1	2	3	2.185793	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)	1	465	-	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)		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	1	1	hg19	c.404G>A	CCDS31122.1	1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	0	OR2T11	246856649	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-2.869222	1	0.170000	NM_001001964			75	74		347	335	1		1			0	0	78	0		1	0	0	0	0	0	0	75	347
SH3BP5L	80851	broad.mit.edu	37	1	249108782	249108782	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000411742.2_Silent_p.L103L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	135										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607																																						ENST00000366472.5	1.000000	0.530000	1	6.700000e-01	0.840000	0.838659	0.840000	1.000000																										0				23						c.(403-405)Ctg>Ttg		SH3-binding domain protein 5-like							90.0	71.0	78.0					1																	249108782		2203	4300	6503	SO:0001819	synonymous_variant	80851	0	0					g.chr1:249108782G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.403C>T	chr1.hg19:g.249108782G>A		1					SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	p.L135L	NM_030645.1	NP_085148.1	1	2	3	2.185793	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)	5	1632	-	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)	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	1	1	hg19	c.403C>T	CCDS31126.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-19.999160	1	0.170000	NM_030645			19	19		270	269	0		1	1		0	0	42	0		9.999917e-01	9.951880e-01	0	10	0	113	0	19	270
ZNF672	79894	broad.mit.edu	37	1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	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)			endometrium(2)|kidney(2)|large_intestine(1)	5	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)			CGACCCCGTGTCTCAGACGCC	0.697																																						ENST00000306562.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				5						c.(583-585)gTc>gCc		zinc finger protein 672							9.0	10.0	9.0					1																	249142057		2198	4289	6487	SO:0001583	missense	79894	1	120368	20				g.chr1:249142057T>C	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.584T>C	chr1.hg19:g.249142057T>C	ENSP00000421915:p.Val195Ala	1						p.V195A	NM_024836.1	NP_079112.1	1	2	3	2.185793	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)	4	1330	+	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)	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	1	1	hg19	c.584T>C	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285914	0.01387	.	.	ENSG00000171161	ENST00000306562	T	0.06933	3.24	2.62	0.449	0.16619	2.62	0.449	0.16619	.	1.677950	0.04259	N	0.340137	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	.	.	.	.	2.3387	0.04254	0.208:0.4964:0.1752:0.1205	.	195	Q499Z4	ZN672_HUMAN	A	195	ENSP00000421915:V195A	.	V	+	2	0	0	ZNF672	247108680	247108680	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.153000	0.11137	-1.096000	0.02151	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999990	1	0.170000	NM_024836			13	12		51	50	1		1	1		0	0	12	0		9.996581e-01	9.839610e-01	0	7	0	24	0	13	51
ZNF672	79894	broad.mit.edu	37	1	249142226	249142226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	ENST00000306562.3	+	4	1499	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	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)			endometrium(2)|kidney(2)|large_intestine(1)	5	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)			CACACACGGGCGAGAAGCCGT	0.672																																						ENST00000306562.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.993810	0.990000	1.000000																										0				5						c.(751-753)ggC>ggT		zinc finger protein 672							8.0	7.0	7.0					1																	249142226		2163	4206	6369	SO:0001819	synonymous_variant	79894	0	0					g.chr1:249142226C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.753C>T	chr1.hg19:g.249142226C>T		1						p.G251G	NM_024836.1	NP_079112.1	1	2	3	2.185793	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)	4	1499	+	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)	Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	0	1	hg19	c.753C>T	CCDS1638.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.996460	1	0.170000	NM_024836			6	6		30	30	0		1	1		0	0	9	0		9.695550e-01	9.785940e-01	0	6	0	34	0	6	30
ZNF692	55657	broad.mit.edu	37	1	249151671	249151671	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000306601.4	-	4	403	c.237T>C	c.(235-237)ggT>ggC	p.G79G	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000451251.1_Silent_p.G84G|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Silent_p.G79G	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	79					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(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)			GATACTGCAGACCTTTTGGAG	0.632																																						ENST00000306601.4	0.600000	0.190000	4.900000e-01	2.700000e-01	0.370000	0.385649	0.370000	0.360000																										0				17						c.(235-237)ggT>ggC		zinc finger protein 692							37.0	42.0	41.0					1																	249151671		2203	4300	6503	SO:0001819	synonymous_variant	55657	0	0					g.chr1:249151671A>G	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.237T>C	chr1.hg19:g.249151671A>G		1					ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.G79G|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Silent_p.G84G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000366471.3_Silent_p.G79G	p.G79G	NM_017865.3	NP_060335.2	1	2	3	2.185793	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)	4	403	-	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)	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	1	1	hg19	c.237T>C	CCDS31127.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-11.654070	1	0.170000	NM_017865			12	11		413	409	0		1	1		0	0	47	0		9.990782e-01	1.785397e-01	0	2	0	23	0	12	413
SAMD11	148398	broad.mit.edu	37	1	879470	879470	+	Missense_Mutation	SNP	G	G	T	rs575654453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	661					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657																																						ENST00000342066.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.988675	0.980000	0.990000																										0				15						c.(1981-1983)aaG>aaT		sterile alpha motif domain containing 11							55.0	63.0	60.0					1																	879470		2203	4300	6503	SO:0001583	missense	148398	0	0					g.chr1:879470G>T	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1983G>T	chr1.hg19:g.879470G>T	ENSP00000342313:p.Lys661Asn	1						p.K661N	NM_152486.2	NP_689699	0	1	1	1.838767	Q96NU1	SAM11_HUMAN		14	2066	+	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)	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	1	1	hg19	c.1983G>T	CCDS2.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737742|2.737742	0.49045|0.49045	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000342066|ENST00000341065;ENST00000455979	.|.	.|.	.|.	5.05|5.05	-2.44|-2.44	0.06502|0.06502	5.05|5.05	-2.44|-2.44	0.06502|0.06502	.|.	0.060271|.	0.64402|.	D|.	0.000004|.	T|T	0.65974|0.65974	0.2743|0.2743	M|M	0.66939|0.66939	2.045|2.045	0.51482|0.51482	D|D	0.99992|0.99992	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.50659|.	0.647;0.541|.	T|T	0.65240|0.65240	-0.6216|-0.6216	9|5	0.87932|.	D|.	0|.	-16.797|-16.797	11.726|11.726	0.51710|0.51710	0.4417:0.0:0.5583:0.0|0.4417:0.0:0.5583:0.0	.|.	645;661|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	N|I	661|569;521	.|.	ENSP00000342313:K661N|.	K|S	+|+	3|2	2|0	2|0	SAMD11|SAMD11	869333|869333	869333|869333	1.000000|1.000000	0.71417|0.71417	0.218000|0.218000	0.23776|0.23776	0.500000|0.500000	0.33767|0.33767	1.943000|1.943000	0.40253|0.40253	-0.315000|-0.315000	0.08703|0.08703	-0.300000|-0.300000	0.09419|0.09419	AAG|AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-20.000000	1	0.170000	NM_152486			113	111		482	473	1		1	0		0	0	152	0		1	9.625351e-01	0	0	0	25	0	113	482
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127					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)			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)		CTCCTTCCTCCGCTCCATCCT	0.582																																						ENST00000327044.6	1.000000	0.960000	1	9.800000e-01	0.990000	0.993847	0.990000	1.000000																										0				16						c.(379-381)gcG>gcA		nucleolar complex associated 2 homolog (S. cerevisiae)							126.0	130.0	129.0					1																	892379		2203	4300	6503	SO:0001819	synonymous_variant	26155	8	121412	43				g.chr1:892379C>T	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.381G>A	chr1.hg19:g.892379C>T		1					NOC2L_ENST00000487214.1_5'UTR	p.A127A	NM_015658.3	NP_056473	0	1	1	1.838767	Q9Y3T9	NOC2L_HUMAN		4	430	-	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)	Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	1	1	hg19	c.381G>A	CCDS3.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	1	0	1		2	2	2	0		0	0	176		176	174	1	2.060000	-4.312123	1	0.170000	NM_015658			163	160		577	554	1		1	1		0	0	176	0		1	1	0	57	0	68	0	163	577
NOC2L	26155	broad.mit.edu	37	1	892589	892589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	82					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)			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)		TTGTAGAACTCGGGGTCTCTG	0.592																																						ENST00000327044.6	1.000000	0.930000	1	9.600000e-01	0.980000	0.986614	0.980000	0.990000																										0				16						c.(244-246)Gag>Aag		nucleolar complex associated 2 homolog (S. cerevisiae)							69.0	74.0	72.0					1																	892589		2203	4300	6503	SO:0001583	missense	26155	0	0					g.chr1:892589C>T	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.244G>A	chr1.hg19:g.892589C>T	ENSP00000317992:p.Glu82Lys	1					NOC2L_ENST00000487214.1_5'UTR	p.E82K	NM_015658.3	NP_056473	0	1	1	1.838767	Q9Y3T9	NOC2L_HUMAN		3	293	-	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)	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	1	1	hg19	c.244G>A	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401737	0.83120	.	.	ENSG00000188976	ENST00000327044	T	0.48201	0.82	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.77321	-0.2631	10	0.87932	D	0	-29.294	16.9781	0.86319	0.0:1.0:0.0:0.0	.	82;82	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	K	82	ENSP00000317992:E82K	ENSP00000317992:E82K	E	-	1	0	0	NOC2L	882452	882452	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	7.297000	0.78799	2.254000	0.74563	0.558000	0.71614	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.181623	1	0.170000	NM_015658			90	88		337	332	1		1	1		0	0	98	0		1	1	0	44	0	58	0	90	337
KLHL17	339451	broad.mit.edu	37	1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	178					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-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)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647																																						ENST00000338591.3	1.000000	0.680000	9.700000e-01	7.900000e-01	0.890000	0.888348	0.890000	0.990000																										0				10						c.(532-534)Cga>Tga		kelch-like family member 17							53.0	56.0	55.0					1																	897248		2203	4300	6503	SO:0001587	stop_gained	339451	0	0					g.chr1:897248C>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.532C>T	chr1.hg19:g.897248C>T	ENSP00000343930:p.Arg178*	1					NOC2L_ENST00000487214.1_5'Flank|NOC2L_ENST00000327044.6_5'Flank	p.R178*	NM_198317.2	NP_938073.1	0	1	1	1.838767	Q6TDP4	KLH17_HUMAN		4	639	+	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;9.48e-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)|Lung SC(97;0.217)	Q5SV94	Nonsense_Mutation	SNP	ENST00000338591.3	0	1	hg19	c.532C>T	CCDS30550.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.236927	0.97403	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	2.01	0.26516	5.16	2.01	0.26516	.	0.060359	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2287	0.31584	0.3856:0.5422:0.0:0.0722	.	.	.	.	X	178;54	.	ENSP00000343930:R178X	R	+	1	2	2	KLHL17	887111	887111	1.000000	0.71417	0.639000	0.29394	0.925000	0.55904	1.054000	0.30455	0.657000	0.30906	0.561000	0.74099	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-3.017764	1	0.170000	NM_198317			33	33		308	305	0		1	0		0	0	80	0		1	2.231489e-01	0	1	0	8	0	33	308
PLEKHN1	84069	broad.mit.edu	37	1	907699	907699	+	Silent	SNP	C	C	T	rs142121682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:907699C>T	ENST00000379409.2	+	9	1083	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLEKHN1_ENST00000379407.3_Silent_p.C311C|PLEKHN1_ENST00000379410.3_Silent_p.C299C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	351	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-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)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGTGGTGTGCGCCAGCTACG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14735	0.0		0.0	False		,,,				2504	0.0					ENST00000379409.2	1.000000	0.700000	9.800000e-01	8.200000e-01	0.920000	0.907938	0.920000	0.990000																										0				9						c.(1051-1053)tgC>tgT		pleckstrin homology domain containing, family N member 1		C	,	4,4400	8.1+/-20.4	0,4,2198	33.0	33.0	33.0		933,897	-4.2	0.3	1	dbSNP_134	33	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,4,6494	TT,TC,CC		0.0,0.0908,0.0308	,	311/577,299/612	907699	4,12992	2202	4296	6498	SO:0001819	synonymous_variant	84069	12	121026	39				g.chr1:907699C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1053C>T	chr1.hg19:g.907699C>T		1					PLEKHN1_ENST00000379410.3_Silent_p.C299C|PLEKHN1_ENST00000379407.3_Silent_p.C311C	p.C351C			0	1	1	1.838767	Q494U1	PKHN1_HUMAN		9	1083	+	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;9.48e-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)|Lung SC(97;0.217)	Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	1	0	hg19	c.1053C>T		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_032129			26	25		199	197	0		1	1		0	0	43	0		9.999999e-01	4.646769e-01	0	2	0	11	0	26	199
AGRN	375790	broad.mit.edu	37	1	979372	979372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	ENST00000379370.2	+	10	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	656	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGACACAGATCGAGGAGGCCC	0.697																																						ENST00000379370.2	1.000000	0.540000	9.600000e-01	6.900000e-01	0.840000	0.831803	0.840000	0.990000																										0				42						c.(1966-1968)atC>atT		agrin																																				SO:0001819	synonymous_variant	375790	2	120384	40				g.chr1:979372C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1968C>T	chr1.hg19:g.979372C>T		1						p.I656I	NM_198576.3	NP_940978.2	0	1	1	1.838767	O00468	AGRIN_HUMAN		10	2018	+	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)	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	0	1	hg19	c.1968C>T	CCDS30551.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.699580	1	0.170000	NM_198576			13	13		116	113	0		1	1		0	0	18	0		9.995631e-01	9.999934e-01	0	49	0	169	0	13	116
AGRN	375790	broad.mit.edu	37	1	989173	989173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1920	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642																																						ENST00000379370.2	0.990000	0.400000	9.300000e-01	5.800000e-01	0.780000	0.763406	0.780000	0.920000																										0				42						c.(5692-5694)Cgc>Tgc		agrin							35.0	30.0	32.0					1																	989173		2202	4296	6498	SO:0001583	missense	375790	5	121146	36				g.chr1:989173C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5692C>T	chr1.hg19:g.989173C>T	ENSP00000368678:p.Arg1898Cys	1					RP11-54O7.14_ENST00000418300.1_RNA	p.R1898C	NM_198576.3	NP_940978.2	0	1	1	1.838767	O00468	AGRIN_HUMAN		34	5742	+	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)	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	0	1	hg19	c.5692C>T	CCDS30551.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013379|2.013379	0.35511|0.35511	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.84516	.|-1.86	3.95|3.95	3.0|3.0	0.34707|0.34707	3.95|3.95	3.0|3.0	0.34707|0.34707	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.207151	.|0.27008	.|N	.|0.021390	D|D	0.90837|0.90837	0.7122|0.7122	M|M	0.86268|0.86268	2.805|2.805	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.87932	.|D	.|0	-29.3102|-29.3102	6.6032|6.6032	0.22712|0.22712	0.3673:0.4808:0.1519:0.0|0.3673:0.4808:0.1519:0.0	.|.	.|1898	.|O00468	.|AGRIN_HUMAN	V|C	219|1898;260	.|ENSP00000368678:R1898C	.|ENSP00000368671:R260C	A|R	+|+	2|1	0|0	0|0	AGRN|AGRN	979036|979036	979036|979036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	3.690000|3.690000	0.54713|0.54713	0.831000|0.831000	0.34780|0.34780	0.462000|0.462000	0.41574|0.41574	GCG|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	0		2	2	2	0		0	0	20		20	19	1	2.060000	-12.435450	1	0.170000	NM_198576			7	7		67	67	1		1	1		0	0	20	0		9.823772e-01	1	0	168	0	775	0	7	67
AGRN	375790	broad.mit.edu	37	1	989228	989228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642																																						ENST00000379370.2	1.000000	0.720000	9.900000e-01	8.400000e-01	0.930000	0.920087	0.930000	0.990000																										0				42						c.(5746-5748)gCa>gTa		agrin							53.0	41.0	45.0					1																	989228		2200	4298	6498	SO:0001583	missense	375790	0	0					g.chr1:989228C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5747C>T	chr1.hg19:g.989228C>T	ENSP00000368678:p.Ala1916Val	1					RP11-54O7.14_ENST00000418300.1_RNA	p.A1916V	NM_198576.3	NP_940978.2	0	1	1	1.838767	O00468	AGRIN_HUMAN		34	5797	+	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)	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	1	1	hg19	c.5747C>T	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150289	0.57151	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.79653	-1.29	4.47	4.47	0.54385	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184656	0.35151	N	0.003403	T	0.78761	0.4334	L	0.29908	0.895	0.50039	D	0.99984	P	0.47253	0.892	P	0.51055	0.657	T	0.77446	-0.2585	10	0.30078	T	0.28	-7.4485	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1916	O00468	AGRIN_HUMAN	V	1916;278	ENSP00000368678:A1916V	ENSP00000368671:A278V	A	+	2	0	0	AGRN	979091	979091	1.000000	0.71417	0.574000	0.28523	0.013000	0.08279	7.574000	0.82434	2.042000	0.60477	0.462000	0.41574	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_198576			15	15		55	54	1		1	1		0	0	21	0		9.999258e-01	1	0	514	0	704	0	15	55
MMEL1	79258	broad.mit.edu	37	1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T	rs199987335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000378412.3	-	23	2379	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I|MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	740						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617																																						ENST00000378412.3	1.000000	0.960000	1	9.800000e-01	0.990000	0.994003	0.990000	1.000000																										0				27						c.(2218-2220)Gtc>Atc		membrane metallo-endopeptidase-like 1							163.0	155.0	158.0					1																	2523018		2203	4300	6503	SO:0001583	missense	79258	8	121410	45				g.chr1:2523018C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2218G>A	chr1.hg19:g.2523018C>T	ENSP00000367668:p.Val740Ile	1					MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I|MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I	p.V740I			0	1	1	1.838767	Q495T6	MMEL1_HUMAN		23	2379	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	1	1	hg19	c.2218G>A	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022710	0.19433	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91068	-2.78;-2.78;-2.78	3.87	3.87	0.44632	3.87	3.87	0.44632	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.205916	0.42682	D	0.000667	D	0.88753	0.6522	M	0.77313	2.365	0.41580	D	0.988738	P	0.35780	0.52	B	0.30029	0.11	D	0.89714	0.3914	10	0.54805	T	0.06	-42.3512	12.6873	0.56954	0.0:1.0:0.0:0.0	.	740	Q495T6	MMEL1_HUMAN	I	583;731;740;583	ENSP00000288709:V731I;ENSP00000367668:V740I;ENSP00000422492:V583I	ENSP00000288709:V731I	V	-	1	0	0	MMEL1	2512878	2512878	0.992000	0.36948	0.832000	0.32986	0.084000	0.17831	3.089000	0.50183	1.990000	0.58119	0.561000	0.74099	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	1	0	1		2	2	2	0		0	0	146		146	138	1	2.060000	-20.000000	1	0.170000	NM_033467			176	172		685	642	0		1	1		0	0	146	0		1	1.886566e-01	0	2	0	2	0	176	685
MMEL1	79258	broad.mit.edu	37	1	2524320	2524320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2524320C>A	ENST00000378412.3	-	20	2114	c.1953G>T	c.(1951-1953)atG>atT	p.M651I	MMEL1_ENST00000288709.6_Missense_Mutation_p.M642I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	651						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTGGTAGATCATGCACTCTG	0.607																																						ENST00000378412.3	0.410000	0.080000	3.100000e-01	1.400000e-01	0.210000	0.233204	0.210000	0.200000																										0				27						c.(1951-1953)atG>atT		membrane metallo-endopeptidase-like 1							133.0	104.0	113.0					1																	2524320		2202	4300	6502	SO:0001583	missense	79258	0	0					g.chr1:2524320C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1953G>T	chr1.hg19:g.2524320C>A	ENSP00000367668:p.Met651Ile	1					MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I|MMEL1_ENST00000288709.6_Missense_Mutation_p.M642I	p.M651I			0	1	1	1.838767	Q495T6	MMEL1_HUMAN		20	2114	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	0	1	hg19	c.1953G>T	CCDS30569.2	0	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839532	0.51057	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90133	-2.62;-2.62;-2.62	4.76	4.76	0.60689	4.76	4.76	0.60689	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	N	0.12502	0.225	0.80722	D	1	P	0.37824	0.609	P	0.45881	0.496	D	0.83569	0.0111	10	0.20046	T	0.44	-47.5283	16.4985	0.84251	0.0:1.0:0.0:0.0	.	651	Q495T6	MMEL1_HUMAN	I	494;642;651;494	ENSP00000288709:M642I;ENSP00000367668:M651I;ENSP00000422492:M494I	ENSP00000288709:M642I	M	-	3	0	0	MMEL1	2514180	2514180	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	5.604000	0.67626	2.460000	0.83146	0.655000	0.94253	ATG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	0	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-6.595749	1	0.170000	NM_033467			6	6		305	299	0		1	0		0	0	67	0		9.632129e-01	1.087861e-02	0	0	0	7	0	6	305
ACTRT2	140625	broad.mit.edu	37	1	2938529	2938529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	93						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612																																						ENST00000378404.2	1.000000	0.910000	1	9.500000e-01	0.980000	0.980856	0.980000	0.990000																										0				26						c.(277-279)ctC>ctA		actin-related protein T2							88.0	90.0	89.0					1																	2938529		2203	4300	6503	SO:0001819	synonymous_variant	140625	0	0					g.chr1:2938529C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.279C>A	chr1.hg19:g.2938529C>A		1						p.L93L	NM_080431.4	NP_536356.3	0	1	1	1.838767	Q8TDY3	ACTT2_HUMAN		1	484	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	1	1	hg19	c.279C>A	CCDS45.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_080431			78	77		370	366	1		1			0	0	118	0		1	0	0	0	0	0	0	78	370
PRDM16	63976	broad.mit.edu	37	1	3301745	3301745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000270722.5	+	4	517	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	156	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			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)		GTGAGAAGTTCTGCGTGGATG	0.597			T	EVI1	"""MDS, AML"""																																	ENST00000270722.5	1.000000	0.930000	1	9.600000e-01	0.980000	0.987414	0.980000	0.990000				Dom	yes			Dom	yes		1	1p36.23-p33	1p36.23-p33	63976	T	PR domain containing 16				L	L	EVI1		MDS, AML		0				59						c.(466-468)ttC>ttT		PR domain containing 16							88.0	99.0	95.0					1																	3301745		2156	4282	6438	SO:0001819	synonymous_variant	63976	0	0					g.chr1:3301745C>T	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.468C>T	chr1.hg19:g.3301745C>T		1					PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F	p.F156F			0	1	1	1.838767	Q9HAZ2	PRD16_HUMAN		4	517	+	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)	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	1	1	hg19	c.468C>T	CCDS41236.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	1	0	1		2	2	2	0		0	0	119		119	120	1	2.060000	-20.000000	1	0.170000	NM_022114			105	103		457	453	0		1	1		0	0	119	0		1	6.854696e-01	0	8	0	4	0	105	457
ARHGEF16	27237	broad.mit.edu	37	1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	521	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577																																						ENST00000378378.4	0.990000	0.630000	9.400000e-01	7.300000e-01	0.840000	0.837718	0.840000	0.860000																										0				7						c.(1561-1563)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 16							99.0	101.0	101.0					1																	3394527		2191	4290	6481	SO:0001583	missense	27237	0	0					g.chr1:3394527C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1562C>T	chr1.hg19:g.3394527C>T	ENSP00000367629:p.Ala521Val	1					ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V	p.A521V	NM_014448.3	NP_055263.2	0	1	1	1.838767	Q5VV41	ARHGG_HUMAN		11	1967	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	1	1	hg19	c.1562C>T	CCDS46.2	0	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705645	0.15172	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.58	4.64	0.57946	5.58	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418477	0.26859	N	0.022136	T	0.67581	0.2908	L	0.50333	1.59	0.32814	D	0.501823	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.67031	-0.5773	10	0.13470	T	0.59	-18.3756	9.7142	0.40265	0.0:0.7839:0.1422:0.0738	.	225;521	B4DJM7;Q5VV41	.;ARHGG_HUMAN	V	521;233;233;225	ENSP00000367629:A521V;ENSP00000367624:A233V;ENSP00000367622:A233V;ENSP00000408887:A225V	ENSP00000367622:A233V	A	+	2	0	0	ARHGEF16	3384387	3384387	0.969000	0.33509	0.568000	0.28447	0.145000	0.21501	2.238000	0.43070	1.294000	0.44707	0.555000	0.69702	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-11.127350	1	0.170000	NM_014448			42	40		474	465	1		1	1		0	0	98	0		1	9.998515e-01	0	37	0	111	0	42	474
MEGF6	1953	broad.mit.edu	37	1	3413807	3413807	+	Silent	SNP	G	G	T	rs577073182		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1157	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721																																					Ovarian(73;978 3658)	ENST00000356575.4	1.000000	0.870000	1	9.300000e-01	0.970000	0.969763	0.970000	0.990000																										0				19						c.(3469-3471)ggC>ggA		multiple EGF-like-domains 6							12.0	18.0	16.0					1																	3413807		2086	4211	6297	SO:0001819	synonymous_variant	1953	0	0					g.chr1:3413807G>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3471C>A	chr1.hg19:g.3413807G>T		1					MEGF6_ENST00000294599.4_Silent_p.G966G	p.G1157G	NM_001409.3	NP_001400.3	0	1	1	1.838767	O75095	MEGF6_HUMAN		27	3697	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	1	1	hg19	c.3471C>A	CCDS41237.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.721	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_001409			44	43		172	169	1		1	1		0	0	26	0		1	9.958276e-01	0	10	0	26	0	44	172
MEGF6	1953	broad.mit.edu	37	1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T	rs199678946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	207	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662																																					Ovarian(73;978 3658)	ENST00000356575.4	1.000000	0.850000	1	9.200000e-01	0.960000	0.962895	0.960000	0.990000																										0				19						c.(619-621)Gcc>Acc		multiple EGF-like-domains 6		C	THR/ALA	2,4226		0,2,2112	32.0	43.0	39.0		619	-1.1	0.1	1		39	12,8450		0,12,4219	yes	missense	MEGF6	NM_001409.3	58	0,14,6331	TT,TC,CC		0.1418,0.0473,0.1103	benign	207/1542	3432077	14,12676	2114	4231	6345	SO:0001583	missense	1953	69	120610	48				g.chr1:3432077C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.619G>A	chr1.hg19:g.3432077C>T	ENSP00000348982:p.Ala207Thr	1					MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	p.A207T	NM_001409.3	NP_001400.3	0	1	1	1.838767	O75095	MEGF6_HUMAN		6	845	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	1	1	hg19	c.619G>A	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238359	0.05944	4.73E-4	0.001418	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96396	-4.0;-4.0	4.22	-1.12	0.09808	4.22	-1.12	0.09808	Epidermal growth factor-like (1);	0.348665	0.29745	N	0.011315	D	0.91546	0.7330	M	0.66378	2.025	0.09310	N	0.999997	B;B	0.27559	0.181;0.02	B;B	0.16722	0.016;0.016	T	0.79650	-0.1715	10	0.15066	T	0.55	-7.6117	3.9544	0.09383	0.2661:0.3986:0.0:0.3353	.	207;102	O75095;O75095-2	MEGF6_HUMAN;.	T	102;207	ENSP00000294599:A102T;ENSP00000348982:A207T	ENSP00000294599:A102T	A	-	1	0	0	MEGF6	3421937	3421937	0.000000	0.05858	0.140000	0.22221	0.415000	0.31203	-1.955000	0.01523	-0.075000	0.12798	-0.311000	0.09066	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.944327	1	0.170000	NM_001409			42	42		204	202	1		1	1		0	0	53	0		1	9.999960e-01	0	14	0	80	0	42	204
CCDC27	148870	broad.mit.edu	37	1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	518										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)		ACTGGAGAGAAAGCTCACCAA	0.562																																						ENST00000294600.2	1.000000	0.640000	9.800000e-01	7.800000e-01	0.890000	0.882237	0.890000	0.990000																										0				36						c.(1552-1554)Aag>Gag		coiled-coil domain containing 27							47.0	48.0	48.0					1																	3683818		2203	4300	6503	SO:0001583	missense	148870	0	0					g.chr1:3683818A>G		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.1552A>G	chr1.hg19:g.3683818A>G	ENSP00000294600:p.Lys518Glu	1						p.K518E	NM_152492.2	NP_689705.2	0	1	1	1.838767	Q2M243	CCD27_HUMAN		10	1636	+	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)	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	1	1	hg19	c.1552A>G	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	A	0.225	-1.025232	0.02061	.	.	ENSG00000162592	ENST00000294600	T	0.17528	2.27	5.24	1.08	0.20341	5.24	1.08	0.20341	.	0.775011	0.11797	N	0.528528	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B	0.20261	0.043	B	0.17722	0.019	T	0.44605	-0.9317	10	0.13853	T	0.58	-3.2002	7.2761	0.26286	0.4014:0.0:0.5986:0.0	.	518	Q2M243	CCD27_HUMAN	E	518	ENSP00000294600:K518E	ENSP00000294600:K518E	K	+	1	0	0	CCDC27	3673678	3673678	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.071000	0.12886	-0.899000	0.02877	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_152492			19	19		150	147	1		1			0	0	46	0		9.999923e-01	0	0	0	0	0	0	19	150
LRRC47	57470	broad.mit.edu	37	1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	448							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGACACGGGTAATTTTCATTT	0.438																																						ENST00000378251.1	1.000000	0.880000	1	9.300000e-01	0.970000	0.969869	0.970000	0.990000																										0				17						c.(1342-1344)Tac>Cac		leucine rich repeat containing 47							156.0	131.0	139.0					1																	3699296		2203	4300	6503	SO:0001583	missense	57470	0	0					g.chr1:3699296A>G	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1342T>C	chr1.hg19:g.3699296A>G	ENSP00000367498:p.Tyr448His	1					RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	p.Y448H	NM_020710.2	NP_065761.1	0	1	1	1.838767	Q8N1G4	LRC47_HUMAN		5	1369	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	1	1	hg19	c.1342T>C	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189190	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.54479	0.57	4.49	4.49	0.54785	4.49	4.49	0.54785	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80894	-0.1178	10	0.87932	D	0	-30.4893	12.9815	0.58567	1.0:0.0:0.0:0.0	.	448	Q8N1G4	LRC47_HUMAN	H	448	ENSP00000367498:Y448H	ENSP00000367498:Y448H	Y	-	1	0	0	LRRC47	3689156	3689156	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	8.820000	0.92003	1.669000	0.50854	0.402000	0.26972	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_020710			56	54		295	284	1		1	1		0	0	70	0		1	1	0	65	0	99	0	56	295
LRRC47	57470	broad.mit.edu	37	1	3703686	3703686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	268							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCCTTGCCCTTCCCGC	0.657																																						ENST00000378251.1	1.000000	0.760000	9.900000e-01	8.500000e-01	0.930000	0.927268	0.930000	0.990000																										0				17						c.(802-804)ggC>ggT		leucine rich repeat containing 47							87.0	64.0	72.0					1																	3703686		2203	4300	6503	SO:0001819	synonymous_variant	57470	0	0					g.chr1:3703686G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.804C>T	chr1.hg19:g.3703686G>A		1					RP1-286D6.5_ENST00000607459.1_RNA	p.G268G	NM_020710.2	NP_065761.1	0	1	1	1.838767	Q8N1G4	LRC47_HUMAN		2	831	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	Q9ULN5	Silent	SNP	ENST00000378251.1	1	1	hg19	c.804C>T	CCDS51.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-3.318806	1	0.170000	NM_020710			37	37		286	279	1		1	0		0	0	63	0		1	9.998757e-01	0	0	0	107	0	37	286
DFFB	1677	broad.mit.edu	37	1	3800135	3800135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3800135G>T	ENST00000378209.3	+	7	1170	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	283					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)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGATGGAAGAGAAGTGGACTG	0.413																																						ENST00000378209.3	0.360000	0.120000	3.000000e-01	1.600000e-01	0.220000	0.234423	0.220000	0.220000																										0				12						c.(847-849)Gaa>Taa		DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)							192.0	182.0	186.0					1																	3800135		2203	4300	6503	SO:0001587	stop_gained	1677	0	0					g.chr1:3800135G>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.847G>T	chr1.hg19:g.3800135G>T	ENSP00000367454:p.Glu283*	1					AL691523.1_ENST00000579705.1_RNA	p.E283*	NM_004402.2	NP_004393.1	0	1	1	1.838767	O76075	DFFB_HUMAN		7	1170	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000378209.3	0	1	hg19	c.847G>T	CCDS52.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.017598	0.97205	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.155202	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-23.2552	17.9466	0.89040	0.0:0.0:1.0:0.0	.	.	.	.	X	283;219;219	.	ENSP00000343218:E219X	E	+	1	0	0	DFFB	3789995	3789995	0.995000	0.38212	0.136000	0.22124	0.031000	0.12232	2.836000	0.48183	2.467000	0.83353	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	0	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-3.269903	1	0.170000	NM_001282669			12	11		573	565	0		1	0		0	0	138	0		9.990405e-01	8.744291e-02	0	0	0	22	0	12	573
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119						nucleus (GO:0005634)		p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567																																						ENST00000361605.3	0.970000	0.440000	8.800000e-01	5.700000e-01	0.720000	0.731258	0.720000	0.730000																										1	Substitution - Missense(1)	p.L119F(1)	lung(1)	11						c.(355-357)Ctt>Att		chromosome 1 open reading frame 174							60.0	56.0	57.0					1																	3807396		2203	4300	6503	SO:0001583	missense	339448	0	0					g.chr1:3807396G>T	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.355C>A	chr1.hg19:g.3807396G>T	ENSP00000355306:p.Leu119Ile	1					C1orf174_ENST00000486765.1_5'UTR	p.L119I	NM_207356.2	NP_997239.2	0	1	1	1.838767	Q8IYL3	CA174_HUMAN		3	453	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	1	1	hg19	c.355C>A	CCDS53.1	0	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746792	0.15710	.	.	ENSG00000198912	ENST00000361605	T	0.06687	3.27	5.21	0.505	0.16953	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.36890	-0.9729	10	0.15066	T	0.55	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	I	119	ENSP00000355306:L119I	ENSP00000355306:L119I	L	-	1	0	0	C1orf174	3797256	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-19.869030	1	0.170000	NM_207356			16	15		210	206	1		1	1		0	0	66	0		9.999316e-01	9.862660e-01	0	19	0	76	0	16	210
AJAP1	55966	broad.mit.edu	37	1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	34					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		CATGTTTCAGCTCGCCGTGGA	0.706																																						ENST00000378191.4	1.000000	0.850000	9.900000e-01	9.100000e-01	0.950000	0.954911	0.950000	0.990000																										0				24						c.(100-102)Ctc>Atc		adherens junctions associated protein 1							79.0	103.0	95.0					1																	4772030		2200	4297	6497	SO:0001583	missense	55966	0	0					g.chr1:4772030C>A	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.100C>A	chr1.hg19:g.4772030C>A	ENSP00000367433:p.Leu34Ile	1					AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	p.L34I	NM_018836.3	NP_061324.1	0	1	1	1.838767	Q9UKB5	AJAP1_HUMAN		2	481	+	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)	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	1	1	hg19	c.100C>A	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772168	0.90108	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.60797	0.16;0.16	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.077313	0.50627	D	0.000116	T	0.65760	0.2722	L	0.32530	0.975	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.68006	-0.5523	10	0.59425	D	0.04	-18.5667	13.9496	0.64109	0.0:1.0:0.0:0.0	.	34	Q9UKB5	AJAP1_HUMAN	I	34	ENSP00000367432:L34I;ENSP00000367433:L34I	ENSP00000367432:L34I	L	+	1	0	0	AJAP1	4671890	4671890	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.198000	0.58419	2.322000	0.78497	0.563000	0.77884	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	1		2	2	2	0		0	0	259		259	254	1	2.060000	-20.000000	1	0.170000	NM_018836			159	159		1487	1470	0		1	0		0	0	259	0		1	9.467630e-03	0	0	0	2	0	159	1487
AJAP1	55966	broad.mit.edu	37	1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	272					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		CCCAAGGATTCTGGGGGAGGC	0.602																																						ENST00000378191.4	1.000000	0.690000	9.600000e-01	7.800000e-01	0.880000	0.878755	0.880000	0.930000																										0				24						c.(814-816)Ctg>Atg		adherens junctions associated protein 1							66.0	73.0	71.0					1																	4772744		2203	4300	6503	SO:0001583	missense	55966	0	0					g.chr1:4772744C>A	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.814C>A	chr1.hg19:g.4772744C>A	ENSP00000367433:p.Leu272Met	1					AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	p.L272M	NM_018836.3	NP_061324.1	0	1	1	1.838767	Q9UKB5	AJAP1_HUMAN		2	1195	+	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)	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	1	1	hg19	c.814C>A	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614309	0.46631	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.14	4.23	0.50019	5.14	4.23	0.50019	.	0.583699	0.15838	N	0.242159	T	0.44787	0.1310	L	0.27053	0.805	0.27055	N	0.963683	D	0.64830	0.994	P	0.60682	0.878	T	0.23013	-1.0200	10	0.41790	T	0.15	-3.634	9.2565	0.37586	0.0:0.8999:0.0:0.1001	.	272	Q9UKB5	AJAP1_HUMAN	M	272	ENSP00000367432:L272M;ENSP00000367433:L272M	ENSP00000367432:L272M	L	+	1	2	2	AJAP1	4672604	4672604	0.705000	0.27846	0.994000	0.49952	0.948000	0.59901	1.026000	0.30103	1.149000	0.42402	0.467000	0.42956	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-13.955030	1	0.170000	NM_018836			50	49		520	512	0		1	0		0	0	145	0		1	2.569419e-01	0	0	0	11	0	50	520
NPHP4	261734	broad.mit.edu	37	1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1363					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)			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)		CTGTGCAGGTGGAATGTCCTC	0.632																																						ENST00000378156.4	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.936076	0.940000	0.990000																										0				47						c.(4087-4089)Cac>Aac		nephronophthisis 4							82.0	96.0	92.0					1																	5924003		2003	4167	6170	SO:0001583	missense	261734	0	0					g.chr1:5924003G>T	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.4087C>A	chr1.hg19:g.5924003G>T	ENSP00000367398:p.His1363Asn	1					NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	p.H1363N	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		29	4352	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.4087C>A	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303324	0.10678	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.3	2.39	0.29439	5.3	2.39	0.29439	.	0.749504	0.12359	N	0.475857	T	0.79076	0.4385	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.62034	-0.6939	10	0.23891	T	0.37	.	3.0777	0.06252	0.3113:0.0:0.5017:0.187	.	1363	O75161	NPHP4_HUMAN	N	1363	ENSP00000367398:H1363N	ENSP00000367398:H1363N	H	-	1	0	0	NPHP4	5846590	5846590	1.000000	0.71417	0.013000	0.15412	0.386000	0.30323	2.329000	0.43876	0.607000	0.29982	-0.119000	0.15052	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-20.000000	1	0.170000				26	26		143	142	0		1	1		0	0	39	0		1	9.434085e-01	0	6	0	23	0	26	143
NPHP4	261734	broad.mit.edu	37	1	5926444	5926444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1211					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)			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)		AGTAAATGATGACAAAGAAGT	0.582																																						ENST00000378156.4	1.000000	0.590000	9.700000e-01	7.500000e-01	0.890000	0.869805	0.890000	0.990000																										0				47						c.(3631-3633)gtC>gtT		nephronophthisis 4							43.0	45.0	44.0					1																	5926444		1943	4138	6081	SO:0001819	synonymous_variant	261734	0	0					g.chr1:5926444G>A	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.3633C>T	chr1.hg19:g.5926444G>A		1					NPHP4_ENST00000478423.2_5'UTR	p.V1211V	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		26	3898	-	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)	Q8IWC0	Silent	SNP	ENST00000378156.4	0	1	hg19	c.3633C>T	CCDS44052.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-18.471270	1	0.170000				10	10		53	51	1		1	1		0	0	13	0		9.972386e-01	8.850578e-01	0	7	0	16	0	10	53
NPHP4	261734	broad.mit.edu	37	1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					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)			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)		CGGCGATGACCTGTAGGTCCC	0.672																																						ENST00000378156.4	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.948599	0.950000	0.990000																										0				47						c.(2857-2859)caG>caT		nephronophthisis 4							50.0	59.0	56.0					1																	5935119		2190	4285	6475	SO:0001583	missense	261734	0	0					g.chr1:5935119C>A	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.2859G>T	chr1.hg19:g.5935119C>A	ENSP00000367398:p.Gln953His	1					NPHP4_ENST00000478423.2_5'UTR	p.Q953H	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		21	3124	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.2859G>T	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	2	NPHP4	5857706	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				25	25		94	92	1		1	1		0	0	26	0		9.999999e-01	5.992963e-01	0	3	0	6	0	25	94
NPHP4	261734	broad.mit.edu	37	1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	658					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)			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)		TGATGTTCCTCGGCAGTCCTG	0.547																																						ENST00000378156.4	1.000000	0.690000	9.700000e-01	7.900000e-01	0.890000	0.885269	0.890000	0.960000																										0				47						c.(1972-1974)cGa>cAa		nephronophthisis 4							115.0	117.0	117.0					1																	5964847		2094	4225	6319	SO:0001583	missense	261734	4	121044	34				g.chr1:5964847C>T	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.1973G>A	chr1.hg19:g.5964847C>T	ENSP00000367398:p.Arg658Gln	1					NPHP4_ENST00000478423.2_5'UTR	p.R658Q	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		16	2238	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.1973G>A	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781207	0.16120	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.1	-1.94	0.07571	5.1	-1.94	0.07571	.	1.397130	0.04674	N	0.411192	T	0.64305	0.2586	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.55798	-0.8084	10	0.10636	T	0.68	.	2.8422	0.05533	0.1131:0.4045:0.3466:0.1358	.	658	O75161	NPHP4_HUMAN	Q	658;61	ENSP00000367398:R658Q	ENSP00000367398:R658Q	R	-	2	0	0	NPHP4	5887434	5887434	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.677000	0.05215	-0.771000	0.04608	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.642100	1	0.170000				43	43		429	419	0		1	1		0	0	96	0		1	5.043563e-01	0	5	0	13	0	43	429
NPHP4	261734	broad.mit.edu	37	1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	624					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)			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)		GTCACAGGTTCTGTAGCGCTG	0.512																																						ENST00000378156.4	1.000000	0.950000	1	9.700000e-01	0.980000	0.990897	0.980000	0.990000																										0				47						c.(1870-1872)Gaa>Aaa		nephronophthisis 4							130.0	129.0	129.0					1																	5965437		1980	4172	6152	SO:0001583	missense	261734	0	0					g.chr1:5965437C>T	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.1870G>A	chr1.hg19:g.5965437C>T	ENSP00000367398:p.Glu624Lys	1					NPHP4_ENST00000478423.2_5'UTR	p.E624K	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		15	2135	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.1870G>A	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304596	0.23736	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86694	-2.16	5.52	4.41	0.53225	5.52	4.41	0.53225	.	0.499991	0.19623	N	0.109877	T	0.79364	0.4433	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.26202	0.067	T	0.71447	-0.4590	10	0.66056	D	0.02	.	10.7746	0.46342	0.0:0.839:0.0:0.161	.	624	O75161	NPHP4_HUMAN	K	624;27	ENSP00000367398:E624K	ENSP00000367398:E624K	E	-	1	0	0	NPHP4	5888024	5888024	0.285000	0.24296	0.020000	0.16555	0.002000	0.02628	3.034000	0.49751	2.586000	0.87340	0.561000	0.74099	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-4.716530	1	0.170000				116	115		386	383	1		1	1		0	0	144	0		1	9.894747e-01	0	7	0	19	0	116	386
NPHP4	261734	broad.mit.edu	37	1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	21					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)			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)		AGGCTGGCGCGCTCTCTGTGG	0.577																																						ENST00000378156.4	0.980000	0.370000	8.800000e-01	5.200000e-01	0.700000	0.705635	0.700000	0.720000																										0				47						c.(61-63)gCg>gTg		nephronophthisis 4							64.0	70.0	68.0					1																	6046288		2048	4186	6234	SO:0001583	missense	261734	0	0					g.chr1:6046288G>A	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.62C>T	chr1.hg19:g.6046288G>A	ENSP00000367398:p.Ala21Val	1					NPHP4_ENST00000478423.2_Intron	p.A21V	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		2	327	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.62C>T	CCDS44052.1	0	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667150	0.47677	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.71	2.58	0.30949	5.71	2.58	0.30949	.	0.521925	0.18213	N	0.148132	D	0.85864	0.5796	L	0.31664	0.95	0.24460	N	0.994448	D	0.76494	0.999	P	0.59357	0.856	T	0.76621	-0.2892	10	0.28530	T	0.3	.	10.9578	0.47368	0.0895:0.1727:0.7378:0.0	.	21	O75161	NPHP4_HUMAN	V	21	ENSP00000367398:A21V	ENSP00000367398:A21V	A	-	2	0	0	NPHP4	5968875	5968875	0.001000	0.12720	0.914000	0.36105	0.339000	0.28857	-0.158000	0.10070	0.733000	0.32492	0.655000	0.94253	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-13.268810	1	0.170000				9	9		117	116	0		1	0		0	0	30	0		9.945683e-01	1.274908e-01	0	1	0	7	0	9	117
NPHP4	261734	broad.mit.edu	37	1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	6					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)			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)		GGTGAAGATCCTGTGCCAGTC	0.577																																						ENST00000378156.4	1.000000	0.670000	9.800000e-01	8.000000e-01	0.910000	0.897870	0.910000	0.990000																										0				47						c.(16-18)aGg>aAg		nephronophthisis 4							57.0	61.0	59.0					1																	6046333		2019	4172	6191	SO:0001583	missense	261734	0	0					g.chr1:6046333C>T	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.17G>A	chr1.hg19:g.6046333C>T	ENSP00000367398:p.Arg6Lys	1					NPHP4_ENST00000478423.2_Intron	p.R6K	NM_015102.3	NP_055917.1	0	1	1	1.838767	O75161	NPHP4_HUMAN		2	282	-	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)	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	1	1	hg19	c.17G>A	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708515	0.15239	.	.	ENSG00000131697	ENST00000378156	D	0.86297	-2.1	5.41	-2.07	0.07276	5.41	-2.07	0.07276	.	1.197840	0.06089	N	0.663313	T	0.80859	0.4704	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60929	-0.7165	10	0.14656	T	0.56	.	11.3369	0.49509	0.0:0.3751:0.0:0.6249	.	6	O75161	NPHP4_HUMAN	K	6	ENSP00000367398:R6K	ENSP00000367398:R6K	R	-	2	0	0	NPHP4	5968920	5968920	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.822000	0.04448	-0.338000	0.08413	-0.136000	0.14681	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				17	17		109	107	1		1	0		0	0	33	0		9.999736e-01	1.507139e-01	0	1	0	4	0	17	109
KCNAB2	8514	broad.mit.edu	37	1	6155597	6155597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	ENST00000164247.1	+	13	1281	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Silent_p.G172G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000352527.1_Silent_p.G225G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	239					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGTGGGCGCCATGACCT	0.632																																						ENST00000164247.1	1.000000	0.640000	9.600000e-01	7.500000e-01	0.860000	0.860123	0.860000	0.930000																										0				8						c.(715-717)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, beta member 2							90.0	89.0	89.0					1																	6155597		2203	4299	6502	SO:0001819	synonymous_variant	8514	6	121378	37				g.chr1:6155597C>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.717C>T	chr1.hg19:g.6155597C>T		1					KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G	p.G239G	NM_001199860.1	NP_001186789.1	0	1	1	1.838767	Q13303	KCAB2_HUMAN		13	1281	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	ENST00000164247.1	0	1	hg19	c.717C>T	CCDS55.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	0	0	1		20	5	2	1		1	1	56		56	55	1	2.060000	-3.075755	1	0.170000	NM_172130			32	32		329	323	0		1	0		1	0	56	0		9.644978e-01	4.921861e-01	0	0	0	50	0	32	329
CHD5	26038	broad.mit.edu	37	1	6166503	6166503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	ENST00000262450.3	-	40	5908	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_ENST00000378021.1_Intron	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)				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)		ACAATCCCTCCCGGTCCAGGG	0.657																																						ENST00000262450.3	1.000000	0.440000	9.600000e-01	6.400000e-01	0.830000	0.806859	0.830000	0.990000																										0				16						c.(5809-5811)Gga>Aga		chromodomain helicase DNA binding protein 5							26.0	24.0	24.0					1																	6166503		2162	4261	6423	SO:0001583	missense	26038	0	0					g.chr1:6166503C>T	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.5809G>A	chr1.hg19:g.6166503C>T	ENSP00000262450:p.Gly1937Arg	1					CHD5_ENST00000378021.1_Intron	p.G1937R	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		40	5908	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	0	1	hg19	c.5809G>A	CCDS57.1	0	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051807	0.55218	.	.	ENSG00000116254	ENST00000262450	D	0.90324	-2.65	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.688966	0.13390	N	0.391516	D	0.86661	0.5986	L	0.27053	0.805	0.80722	D	1	B	0.33022	0.394	B	0.32864	0.154	D	0.85433	0.1150	10	0.62326	D	0.03	-0.5348	18.3532	0.90345	0.0:1.0:0.0:0.0	.	1937	Q8TDI0	CHD5_HUMAN	R	1937	ENSP00000262450:G1937R	ENSP00000262450:G1937R	G	-	1	0	0	CHD5	6089090	6089090	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.951000	0.49089	2.408000	0.81797	0.491000	0.48974	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-13.134490	1	0.170000	NM_015557			6	6		37	36	0		1			0	0	10	0		9.663271e-01	0	0	0	0	0	0	6	37
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	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.A1836T(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)		TGGCTCTCGGCGAGGCACTCC	0.662																																						ENST00000262450.3	1.000000	0.710000	9.800000e-01	8.100000e-01	0.900000	0.898130	0.900000	0.990000																										1	Substitution - Missense(1)	p.A1836T(1)	lung(1)	16						c.(5506-5508)Gcc>Acc		chromodomain helicase DNA binding protein 5							78.0	78.0	78.0					1																	6169927		2203	4300	6503	SO:0001583	missense	26038	0	0					g.chr1:6169927C>T	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.5506G>A	chr1.hg19:g.6169927C>T	ENSP00000262450:p.Ala1836Thr	1					CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	p.A1836T	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		38	5605	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	1	1	hg19	c.5506G>A	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	0	CHD5	6092514	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-14.459570	1	0.170000	NM_015557			48	47		467	462	0		1	0		0	0	111	0		1	2.564729e-02	0	1	0	2	0	48	467
CHD5	26038	broad.mit.edu	37	1	6181169	6181169	+	Silent	SNP	C	C	T	rs200772880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	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)				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)		CCCAACCTCTCGGCAGCTGCT	0.652													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		15535	0.0		0.0	False		,,,				2504	0.0					ENST00000262450.3	0.990000	0.500000	9.500000e-01	6.500000e-01	0.820000	0.806818	0.820000	0.940000																										0				16						c.(4906-4908)ccG>ccA		chromodomain helicase DNA binding protein 5							18.0	22.0	21.0					1																	6181169		2203	4300	6503	SO:0001819	synonymous_variant	26038	6	121374	32				g.chr1:6181169C>T	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.4908G>A	chr1.hg19:g.6181169C>T		1					CHD5_ENST00000378021.1_Silent_p.P493P	p.P1636P	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		33	5007	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	1	1	hg19	c.4908G>A	CCDS57.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-17.806020	1	0.170000	NM_015557			12	12		117	113	1		1	0		0	0	25	0		9.991102e-01	1.052510e-02	0	1	0	1	0	12	117
CHD5	26038	broad.mit.edu	37	1	6184720	6184720	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4396G>T	c.(4396-4398)Gcc>Tcc	p.A1466S	CHD5_ENST00000378021.1_Splice_Site_p.A323S	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)				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)		GACACATAGGCTCTGGGGTGG	0.692																																						ENST00000262450.3	1.000000	0.460000	9.600000e-01	6.700000e-01	0.850000	0.824163	0.850000	0.990000																										0				16						c.(4396-4398)Gcc>Tcc		chromodomain helicase DNA binding protein 5							4.0	4.0	4.0					1																	6184720		2092	4104	6196	SO:0001630	splice_region_variant	26038	0	0					g.chr1:6184720C>A	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.4395-1G>T	chr1.hg19:g.6184720C>A		1					CHD5_ENST00000378021.1_Splice_Site_p.A323S	p.A1466S	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		30	4495	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	0	1	hg19	c.4396G>T	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.814527	0.96982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91996	-2.95;2.03	4.54	4.54	0.55810	4.54	4.54	0.55810	Domain of unknown function DUF1086 (1);	0.000000	0.64402	D	0.000001	D	0.95639	0.8582	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.994;0.999	D	0.96293	0.9215	10	0.87932	D	0	-23.6995	17.6537	0.88172	0.0:1.0:0.0:0.0	.	1466;323	Q8TDI0;Q5TG85	CHD5_HUMAN;.	S	1466;982;323;874;874;323	ENSP00000262450:A1466S;ENSP00000367260:A323S	ENSP00000262450:A1466S	A	-	1	0	0	CHD5	6107307	6107307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.394000	0.79862	2.251000	0.74343	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-15.077990	1	0.170000	NM_015557	Missense_Mutation		5	5		17	15	0		1	0		0	0	8	0		9.297390e-01	0	0	0	0	1	0	5	17
CHD5	26038	broad.mit.edu	37	1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	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)				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)		CAGTCCGAGTCGTAGATGATG	0.642																																						ENST00000262450.3	1.000000	0.660000	9.700000e-01	7.700000e-01	0.880000	0.875164	0.880000	0.960000																										0				16						c.(3355-3357)Gac>Aac		chromodomain helicase DNA binding protein 5							113.0	99.0	103.0					1																	6190296		2203	4300	6503	SO:0001583	missense	26038	0	0					g.chr1:6190296C>T	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.3355G>A	chr1.hg19:g.6190296C>T	ENSP00000262450:p.Asp1119Asn	1					CHD5_ENST00000378021.1_5'UTR	p.D1119N	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		22	3454	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	1	1	hg19	c.3355G>A	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.447517	0.96205	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.81330	-1.48	4.81	4.81	0.61882	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.93648	0.7971	H	0.97365	3.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96007	0.8998	10	0.87932	D	0	-40.3082	18.2593	0.90030	0.0:1.0:0.0:0.0	.	1119	Q8TDI0	CHD5_HUMAN	N	1119;635;527;527	ENSP00000262450:D1119N	ENSP00000262450:D1119N	D	-	1	0	0	CHD5	6112883	6112883	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.699000	0.84547	2.380000	0.81148	0.561000	0.74099	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.318794	1	0.170000	NM_015557			36	36		360	354	0		1			0	0	81	0		1	0	0	0	0	0	0	36	360
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	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)				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)		ACTCCGAATGGCGTTGTCCTC	0.577																																						ENST00000262450.3	1.000000	0.810000	9.900000e-01	8.800000e-01	0.940000	0.938448	0.940000	0.990000																										0				16						c.(2401-2403)gCc>gTc		chromodomain helicase DNA binding protein 5							169.0	158.0	162.0					1																	6202222		2203	4300	6503	SO:0001583	missense	26038	0	0					g.chr1:6202222G>A	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.2402C>T	chr1.hg19:g.6202222G>A	ENSP00000262450:p.Ala801Val	1					CHD5_ENST00000378021.1_5'UTR	p.A801V	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		15	2501	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	1	1	hg19	c.2402C>T	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	0	CHD5	6124809	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	200		200	197	1	2.060000	-20.000000	1	0.170000	NM_015557			94	93		876	869	1		1			0	0	200	0		1	0	0	0	0	0	0	94	876
CHD5	26038	broad.mit.edu	37	1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	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)				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)		CTTCTTCTTGCGCCTCCTCTT	0.602																																						ENST00000262450.3	0.990000	0.600000	9.600000e-01	7.200000e-01	0.850000	0.845211	0.850000	0.930000																										0				16						c.(979-981)cGc>cAc		chromodomain helicase DNA binding protein 5							98.0	92.0	94.0					1																	6211106		2203	4300	6503	SO:0001583	missense	26038	9	121408	41				g.chr1:6211106C>T	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.980G>A	chr1.hg19:g.6211106C>T	ENSP00000262450:p.Arg327His	1					CHD5_ENST00000378021.1_5'UTR	p.R327H	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		7	1079	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	1	1	hg19	c.980G>A	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147784	0.37923	.	.	ENSG00000116254	ENST00000262450	D	0.85088	-1.94	4.0	2.0	0.26442	4.0	2.0	0.26442	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.69593	0.3128	L	0.38175	1.15	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.65100	-0.6250	10	0.87932	D	0	-18.1038	3.128	0.06413	0.3835:0.409:0.0:0.2075	.	327	Q8TDI0	CHD5_HUMAN	H	327	ENSP00000262450:R327H	ENSP00000262450:R327H	R	-	2	0	0	CHD5	6133693	6133693	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	2.966000	0.49208	0.261000	0.21753	-0.370000	0.07254	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_015557			24	24		245	241	0		1			0	0	53	0		9.999997e-01	0	0	0	0	0	0	24	245
CHD5	26038	broad.mit.edu	37	1	6214959	6214959	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				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)		AATGAGTGGCCTGTAGGGGGA	0.617																																						ENST00000262450.3	1.000000	0.790000	9.900000e-01	8.800000e-01	0.950000	0.943231	0.950000	0.990000																										0				16						c.e5-1		chromodomain helicase DNA binding protein 5							44.0	48.0	46.0					1																	6214959		2203	4300	6503	SO:0001630	splice_region_variant	26038	0	0					g.chr1:6214959C>T	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.507-1G>A	chr1.hg19:g.6214959C>T		1					CHD5_ENST00000378021.1_Splice_Site		NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		5	606	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	1	1	hg19		CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989004	0.35131	.	.	ENSG00000116254	ENST00000262450	.	.	.	3.84	3.84	0.44239	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CHD5	6137546	6137546	1.000000	0.71417	0.894000	0.35097	0.226000	0.24999	7.381000	0.79718	1.876000	0.54355	0.313000	0.20887	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_015557	Intron		35	34		220	215	0		1			0	0	38	0		1	0	0	0	0	0	0	35	220
CHD5	26038	broad.mit.edu	37	1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	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)				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)		CCCCACTCGGCCATGAGCTGC	0.627																																						ENST00000262450.3	1.000000	0.860000	1	9.200000e-01	0.970000	0.966278	0.970000	0.990000																										0				16						c.(415-417)Gcc>Tcc		chromodomain helicase DNA binding protein 5							93.0	84.0	87.0					1																	6215750		2203	4300	6503	SO:0001583	missense	26038	0	0					g.chr1:6215750C>A	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.415G>T	chr1.hg19:g.6215750C>A	ENSP00000262450:p.Ala139Ser	1					CHD5_ENST00000378021.1_5'UTR	p.A139S	NM_015557.2	NP_056372.1	0	1	1	1.838767	O00258	WRB_HUMAN		4	514	-	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)	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	1	1	hg19	c.415G>T	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021652	0.07634	.	.	ENSG00000116254	ENST00000262450	D	0.90004	-2.6	4.31	3.39	0.38822	4.31	3.39	0.38822	.	0.360385	0.24296	N	0.039780	D	0.82300	0.5007	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.73395	-0.3996	10	0.09590	T	0.72	-28.1265	12.3353	0.55062	0.0:0.9171:0.0:0.0829	.	139	Q8TDI0	CHD5_HUMAN	S	139	ENSP00000262450:A139S	ENSP00000262450:A139S	A	-	1	0	0	CHD5	6138337	6138337	1.000000	0.71417	0.984000	0.44739	0.369000	0.29798	2.566000	0.45948	0.955000	0.37878	-0.136000	0.14681	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.334841	1	0.170000	NM_015557			44	44		201	197	1		1			0	0	46	0		1	0	0	0	0	0	0	44	201
GPR153	387509	broad.mit.edu	37	1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632																																						ENST00000377893.2	1.000000	0.900000	1	9.400000e-01	0.970000	0.977124	0.970000	0.990000																										0				14						c.(778-780)Cct>Tct		G protein-coupled receptor 153							90.0	94.0	93.0					1																	6313786		2203	4300	6503	SO:0001583	missense	387509	0	0					g.chr1:6313786G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.778C>T	chr1.hg19:g.6313786G>A	ENSP00000367125:p.Pro260Ser	1						p.P260S	NM_207370.2	NP_997253.2	0	1	1	1.838767	Q6NV75	GP153_HUMAN		3	1037	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	1	1	hg19	c.778C>T	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549552	0.86127	.	.	ENSG00000158292	ENST00000377893	T	0.35973	1.28	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54282	-0.8317	10	0.87932	D	0	-38.9726	17.1055	0.86662	0.0:0.0:1.0:0.0	.	260	Q6NV75	GP153_HUMAN	S	260	ENSP00000367125:P260S	ENSP00000367125:P260S	P	-	1	0	0	GPR153	6236373	6236373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.384000	0.81235	0.462000	0.41574	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2	1	0	0		2	2	2	0		0	0	78		78	77	1	2.060000	-3.034724	1	0.170000				65	65		302	296	1		1	1		0	0	78	0		1	9.847030e-01	0	11	0	22	0	65	302
ACOT7	11332	broad.mit.edu	37	1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A	rs578211150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000377855.2	-	9	1255	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000361521.4_Missense_Mutation_p.A360V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	370					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTCGCTTCGCCTTCATCTG	0.622																																					GBM(74;673 1226 4974 11850 13190)	ENST00000377855.2	1.000000	0.700000	9.800000e-01	8.200000e-01	0.920000	0.908136	0.920000	0.990000																										0				16						c.(1108-1110)gCg>gTg		acyl-CoA thioesterase 7							200.0	140.0	160.0					1																	6324691		2201	4299	6500	SO:0001583	missense	11332	0	0					g.chr1:6324691G>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1109C>T	chr1.hg19:g.6324691G>A	ENSP00000367086:p.Ala370Val	1					ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000361521.4_Missense_Mutation_p.A360V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	p.A370V	NM_181864.2	NP_863654.1	0	1	1	1.838767	O00154	BACH_HUMAN		9	1255	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	0	1	hg19	c.1109C>T	CCDS65.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800147	0.90538	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.991	P;P;P;P	0.58820	0.551;0.458;0.846;0.562	T	0.53528	-0.8426	10	0.33940	T	0.23	.	15.1435	0.72630	0.0:0.0:1.0:0.0	.	360;370;340;319	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	370;340;319;360;255	ENSP00000367086:A370V;ENSP00000367076:A340V;ENSP00000367073:A319V;ENSP00000354615:A360V;ENSP00000439218:A255V	ENSP00000354615:A360V	A	-	2	0	0	ACOT7	6247278	6247278	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.861000	0.69553	2.647000	0.89833	0.563000	0.77884	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.327760	1	0.170000	NM_007274			20	20		130	126	1		1	1		0	0	21	0		9.999961e-01	1	0	27	0	200	0	20	130
HES2	54626	broad.mit.edu	37	1	6479365	6479365	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000377837.1_Intron|HES2_ENST00000471190.1_5'Flank|HES2_ENST00000487437.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000489730.1_Silent_p.V59V	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|transcription factor binding (GO:0008134)			lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652																																						ENST00000377834.4	0.990000	0.540000	9.500000e-01	6.900000e-01	0.840000	0.828072	0.840000	0.960000																										0				2						c.(175-177)gtC>gtA		hes family bHLH transcription factor 2							30.0	36.0	34.0					1																	6479365		2200	4297	6497	SO:0001819	synonymous_variant	54626	0	0					g.chr1:6479365G>T	AL031848	CCDS30574.1	1p36.31	2013-10-17	2013-10-17		ENSG00000069812	ENSG00000069812		"""Basic helix-loop-helix proteins"""	16005	protein-coding gene	gene with protein product		609970	"""hairy and enhancer of split 2 (Drosophila)"""			15254753	Standard	NM_019089		Approved	bHLHb40	uc001amx.3	Q9Y543	OTTHUMG00000000752	ENST00000377834.4:c.177C>A	chr1.hg19:g.6479365G>T		1					HES2_ENST00000471190.1_5'Flank|HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000377837.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000487437.1_Intron	p.V59V	NM_019089.4	NP_061962.2	0	1	1	1.838767	Q9Y543	HES2_HUMAN		3	275	-	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	A2RTZ9|Q96EN4|Q9Y542	Silent	SNP	ENST00000377834.4	1	1	hg19	c.177C>A	CCDS30574.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	HES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001881.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.987450	1	0.170000	NM_019089			15	15		144	141	0		1	0		0	0	23	0		9.998822e-01	0	0	0	0	1	0	15	144
NOL9	79707	broad.mit.edu	37	1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	518					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463																																						ENST00000377705.5	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.930199	0.940000	0.990000																										0				19						c.(1552-1554)Att>Gtt		nucleolar protein 9							122.0	118.0	120.0					1																	6592123		2203	4300	6503	SO:0001583	missense	79707	0	0					g.chr1:6592123T>C	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1552A>G	chr1.hg19:g.6592123T>C	ENSP00000366934:p.Ile518Val	1						p.I518V	NM_024654.4	NP_078930	0	1	1	1.838767	Q5SY16	NOL9_HUMAN		9	1584	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	1	1	hg19	c.1552A>G	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	T	0.456	-0.891319	0.02491	.	.	ENSG00000162408	ENST00000377705	T	0.45276	0.9	5.64	-1.04	0.10068	5.64	-1.04	0.10068	Pre-mRNA cleavage complex II Clp1 (1);	0.471757	0.20863	N	0.084305	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.15636	-1.0430	10	0.29301	T	0.29	-8.2714	10.3635	0.44010	0.0:0.3013:0.0:0.6987	.	518	Q5SY16	NOL9_HUMAN	V	518	ENSP00000366934:I518V	ENSP00000366934:I518V	I	-	1	0	0	NOL9	6514710	6514710	0.029000	0.19370	0.002000	0.10522	0.382000	0.30200	0.135000	0.15952	-0.240000	0.09696	0.379000	0.24179	ATT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_024654			38	38		290	281	1		1	1		0	0	77	0		1	6.939360e-01	0	4	0	16	0	38	290
TAS1R1	80835	broad.mit.edu	37	1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	782					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)			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)		CACGGCCAGCGTCTACGACGG	0.567																																						ENST00000333172.6	1.000000	0.700000	9.800000e-01	8.100000e-01	0.900000	0.896566	0.900000	0.990000																										0				29						c.(2344-2346)Gtc>Atc		taste receptor, type 1, member 1							126.0	107.0	114.0					1																	6639462		2203	4300	6503	SO:0001583	missense	80835	1	121412	30				g.chr1:6639462G>A		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.2344G>A	chr1.hg19:g.6639462G>A	ENSP00000331867:p.Val782Ile	1					TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank	p.V782I	NM_138697.3	NP_619642.2	0	1	1	1.838767	Q7RTX1	TS1R1_HUMAN		6	2537	+	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)	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	1	1	hg19	c.2344G>A	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.486|3.486	-0.104955|-0.104955	0.06967|0.06967	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000351136	.|D;D	.|0.88046	.|-2.33;-2.33	5.18|5.18	1.56|1.56	0.23342|0.23342	5.18|5.18	1.56|1.56	0.23342|0.23342	.|GPCR, family 3, C-terminal (2);	.|0.658638	.|0.14093	.|N	.|0.341843	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.35341|0.35341	1.055|1.055	0.22796|0.22796	N|N	0.998728|0.998728	.|P;B	.|0.39862	.|0.692;0.056	.|B;B	.|0.31390	.|0.129;0.022	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.52906	.|T	.|0.07	.|.	1.6027|1.6027	0.02678|0.02678	0.4112:0.1318:0.3228:0.1342|0.4112:0.1318:0.3228:0.1342	.|.	.|528;782	.|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	H|I	239|782;528	.|ENSP00000331867:V782I;ENSP00000312558:V528I	.|ENSP00000331867:V782I	R|V	+|+	2|1	0|0	0|0	TAS1R1|TAS1R1	6562049|6562049	6562049|6562049	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.151000|0.151000	0.21798|0.21798	-0.070000|-0.070000	0.11523|0.11523	0.295000|0.295000	0.22570|0.22570	0.591000|0.591000	0.81541|0.81541	CGT|GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000				39	39		366	361	0		1			0	0	89	0		1	0	0	0	0	0	0	39	366
THAP3	90326	broad.mit.edu	37	1	6692877	6692877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	ENST00000054650.4	+	6	618	c.460G>T	c.(460-462)Gca>Tca	p.A154S	THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S|DNAJC11_ENST00000465508.1_5'Flank	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	154							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCAAGCAACAGAGGC	0.622																																						ENST00000054650.4	1.000000	0.670000	9.600000e-01	7.700000e-01	0.880000	0.874184	0.880000	0.930000																										0				4						c.(460-462)Gca>Tca		THAP domain containing, apoptosis associated protein 3							91.0	92.0	92.0					1																	6692877		876	1991	2867	SO:0001583	missense	90326	0	0					g.chr1:6692877G>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.460G>T	chr1.hg19:g.6692877G>T	ENSP00000054650:p.Ala154Ser	1					THAP3_ENST00000377627.3_Intron|DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S	p.A154S	NM_001195753.1	NP_001182682.1	0	1	1	1.838767	Q8WTV1	THAP3_HUMAN		6	618	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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)	Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	1	1	hg19	c.460G>T	CCDS55572.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413824	0.25465	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.95001	-3.58;-3.58	3.9	2.98	0.34508	3.9	2.98	0.34508	.	1.429030	0.05053	N	0.478551	D	0.90539	0.7035	L	0.43152	1.355	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.78181	-0.2304	10	0.13470	T	0.59	-14.5844	7.5838	0.27980	0.1194:0.0:0.8806:0.0	.	153;154	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	S	154;153	ENSP00000054650:A154S;ENSP00000311537:A153S	ENSP00000054650:A154S	A	+	1	0	0	THAP3	6615464	6615464	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	1.455000	0.35190	0.965000	0.38133	0.462000	0.41574	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-12.947910	1	0.170000	NM_138350			43	43		444	433	1		1	1		0	0	130	0		1	9.916238e-01	0	14	0	64	0	43	444
THAP3	90326	broad.mit.edu	37	1	6693075	6693075	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	ENST00000054650.4	+	6	816	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I|DNAJC11_ENST00000465508.1_5'Flank	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	220							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCAGCCGCCTCCGTGCTTG	0.602																																						ENST00000054650.4	1.000000	0.810000	9.900000e-01	9.000000e-01	0.960000	0.951059	0.960000	0.990000																										0				4						c.(658-660)Ctc>Atc		THAP domain containing, apoptosis associated protein 3							20.0	21.0	20.0					1																	6693075		876	1991	2867	SO:0001583	missense	90326	0	0					g.chr1:6693075C>A	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.658C>A	chr1.hg19:g.6693075C>A	ENSP00000054650:p.Leu220Ile	1					THAP3_ENST00000377627.3_Intron|DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I	p.L220I	NM_001195753.1	NP_001182682.1	0	1	1	1.838767	Q8WTV1	THAP3_HUMAN		6	816	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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)	Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	1	1	hg19	c.658C>A	CCDS55572.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329607	0.41297	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96554	-4.05;-4.05	4.2	3.28	0.37604	4.2	3.28	0.37604	.	4.768470	0.01191	N	0.007330	D	0.96568	0.8880	M	0.66939	2.045	0.21579	N	0.999637	D;P	0.54047	0.964;0.939	P;B	0.49597	0.616;0.412	D	0.86334	0.1700	10	0.54805	T	0.06	-21.1191	7.6954	0.28592	0.0:0.8842:0.0:0.1158	.	219;220	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	I	220;219	ENSP00000054650:L220I;ENSP00000311537:L219I	ENSP00000054650:L220I	L	+	1	0	0	THAP3	6615662	6615662	0.382000	0.25148	0.046000	0.18839	0.361000	0.29550	2.393000	0.44442	0.977000	0.38444	0.462000	0.41574	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_138350			27	27		106	104	1		1	1		0	0	28	0		1	9.999987e-01	0	25	0	69	0	27	106
CAMTA1	23261	broad.mit.edu	37	1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGGCCATCGAGGACTGCGGCA	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	0.980000	0.570000	9.100000e-01	6.800000e-01	0.790000	0.796287	0.790000	0.800000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(556-558)gaG>gaT		calmodulin binding transcription activator 1							142.0	115.0	124.0					1																	7700507		2203	4300	6503	SO:0001583	missense	23261	0	0					g.chr1:7700507G>T	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.558G>T	chr1.hg19:g.7700507G>T	ENSP00000306522:p.Glu186Asp	1					CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	p.E186D	NM_015215.2	NP_056030.1	0	1	1	1.838767	Q9Y6Y1	CMTA1_HUMAN		7	765	+	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)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	1	1	hg19	c.558G>T	CCDS30576.1	0	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242079	0.39598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21361	2.02;2.01	5.36	3.25	0.37280	5.36	3.25	0.37280	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.53005	D	0.999968	P	0.45768	0.866	P	0.46510	0.519	T	0.06215	-1.0839	10	0.19147	T	0.46	-24.0721	10.9454	0.47297	0.2021:0.0:0.7979:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	D	186	ENSP00000306522:E186D;ENSP00000402561:E186D	ENSP00000306522:E186D	E	+	3	2	2	CAMTA1	7623094	7623094	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.992000	0.56980	1.257000	0.44085	0.462000	0.41574	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.318793	1	0.170000	NM_015215			37	36		451	440	0		1	0		0	0	107	0		1	0	0	0	0	1	0	37	451
CAMTA1	23261	broad.mit.edu	37	1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CTGAGTCCCAGCACCACCCTG	0.672			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	1.000000	0.780000	9.900000e-01	8.600000e-01	0.940000	0.932565	0.940000	0.990000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(1732-1734)aGc>aAc		calmodulin binding transcription activator 1							32.0	38.0	36.0					1																	7724340		2202	4299	6501	SO:0001583	missense	23261	0	0					g.chr1:7724340G>A	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.1733G>A	chr1.hg19:g.7724340G>A	ENSP00000306522:p.Ser578Asn	1					CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	p.S578N	NM_015215.2	NP_056030.1	0	1	1	1.838767	Q9Y6Y1	CMTA1_HUMAN		9	1940	+	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)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	1	1	hg19	c.1733G>A	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612615	0.66672	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.39406	1.08;1.08	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.53249	1.67	0.47245	D	0.999365	D	0.63880	0.993	D	0.70227	0.968	T	0.62845	-0.6768	10	0.62326	D	0.03	-20.1297	18.9116	0.92487	0.0:0.0:1.0:0.0	.	578	Q9Y6Y1	CMTA1_HUMAN	N	578	ENSP00000306522:S578N;ENSP00000402561:S578N	ENSP00000306522:S578N	S	+	2	0	0	CAMTA1	7646927	7646927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.528000	0.73807	2.488000	0.83962	0.493000	0.49557	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-20.000000	1	0.170000	NM_015215			48	47		394	387	1		1			0	0	82	0		1	0	0	0	0	0	0	48	394
CAMTA1	23261	broad.mit.edu	37	1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGTGGAGACGCGGATCGAGTC	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	0.990000	0.680000	9.400000e-01	7.600000e-01	0.850000	0.854744	0.850000	0.870000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(1993-1995)Cgg>Tgg		calmodulin binding transcription activator 1							108.0	102.0	104.0					1																	7724600		2203	4300	6503	SO:0001583	missense	23261	0	0					g.chr1:7724600C>T	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.1993C>T	chr1.hg19:g.7724600C>T	ENSP00000306522:p.Arg665Trp	1					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	p.R665W	NM_015215.2	NP_056030.1	0	1	1	1.838767	Q9Y6Y1	CMTA1_HUMAN		9	2200	+	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)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	1	1	hg19	c.1993C>T	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137842	0.37728	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21191	2.02;2.02	5.36	4.44	0.53790	5.36	4.44	0.53790	.	0.634518	0.15611	N	0.253369	T	0.32376	0.0827	L	0.44542	1.39	0.35016	D	0.757345	D	0.69078	0.997	P	0.56434	0.798	T	0.44019	-0.9355	10	0.72032	D	0.01	-21.6128	12.6059	0.56523	0.4566:0.5434:0.0:0.0	.	665	Q9Y6Y1	CMTA1_HUMAN	W	665	ENSP00000306522:R665W;ENSP00000402561:R665W	ENSP00000306522:R665W	R	+	1	2	2	CAMTA1	7647187	7647187	0.004000	0.15560	0.799000	0.32177	0.742000	0.42306	0.064000	0.14437	1.253000	0.44018	0.498000	0.49722	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-16.250830	1	0.170000	NM_015215			72	71		814	804	0		1			0	0	163	0		1	0	0	0	0	0	0	72	814
CAMTA1	23261	broad.mit.edu	37	1	7737765	7737765	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	962					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGCTCCCTTCCTCCCAGCACG	0.567			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	1.000000	0.730000	9.800000e-01	8.400000e-01	0.920000	0.917475	0.920000	0.990000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(2884-2886)tcC>tcA		calmodulin binding transcription activator 1							101.0	91.0	94.0					1																	7737765		2203	4300	6503	SO:0001819	synonymous_variant	23261	0	0					g.chr1:7737765C>A	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.2886C>A	chr1.hg19:g.7737765C>A		1					CAMTA1_ENST00000439411.2_Silent_p.S962S	p.S962S	NM_015215.2	NP_056030.1	0	1	1	1.838767	Q9Y6Y1	CMTA1_HUMAN		11	3093	+	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)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	1	1	hg19	c.2886C>A	CCDS30576.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_015215			33	33		262	258	1		1	0		0	0	56	0		1	3.709856e-02	0	0	0	3	0	33	262
CAMTA1	23261	broad.mit.edu	37	1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F|CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GCAGTACGCACTTTATAAAAA	0.488			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	1.000000	0.970000	1	9.800000e-01	0.990000	0.996141	0.990000	1.000000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(4696-4698)Ctt>Ttt		calmodulin binding transcription activator 1							194.0	208.0	203.0					1																	7811265		2203	4300	6503	SO:0001583	missense	23261	0	0					g.chr1:7811265C>T	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.4696C>T	chr1.hg19:g.7811265C>T	ENSP00000306522:p.Leu1566Phe	1					CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	p.L1566F	NM_015215.2	NP_056030.1	0	1	1	1.838767	Q9Y6Y1	CMTA1_HUMAN		20	4903	+	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)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	1	1	hg19	c.4696C>T	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789180	0.90367	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.70425	-0.4875	10	0.13853	T	0.58	-7.3596	19.7272	0.96168	0.0:1.0:0.0:0.0	.	609;529;1566	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	F	1566;1552;609;529;130	ENSP00000306522:L1566F;ENSP00000402561:L1552F;ENSP00000452319:L130F	ENSP00000306522:L1566F	L	+	1	0	0	CAMTA1	7733852	7733852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1		2	2	2	0		0	0	349		349	347	1	2.060000	-20.000000	1	0.170000	NM_015215			269	264		1183	1159	1		1	1		0	0	349	0		1	3.831339e-01	0	4	0	3	0	269	1183
PER3	8863	broad.mit.edu	37	1	7863170	7863170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000361923.2	+	8	1108	c.933G>A	c.(931-933)ctG>ctA	p.L311L	PER3_ENST00000377532.3_Silent_p.L312L|PER3_ENST00000377541.1_Silent_p.L311L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	311	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443																																						ENST00000361923.2	1.000000	0.730000	9.800000e-01	8.400000e-01	0.930000	0.917995	0.930000	0.990000																										0				39						c.(931-933)ctG>ctA		period circadian clock 3							187.0	164.0	172.0					1																	7863170		2203	4300	6503	SO:0001819	synonymous_variant	8863	0	0					g.chr1:7863170G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.933G>A	chr1.hg19:g.7863170G>A		1					PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000377532.3_Silent_p.L312L	p.L311L	NM_016831.1	NP_058515.1	0	1	1	1.838767	P56645	PER3_HUMAN		8	1108	+	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)	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	1	1	hg19	c.933G>A	CCDS89.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-13.163450	1	0.170000	NM_016831			33	30		261	256	1		1	1		0	0	87	0		1	9.693496e-01	0	2	0	45	0	33	261
SLC45A1	50651	broad.mit.edu	37	1	8390438	8390438	+	Silent	SNP	G	G	A	rs547186750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390438G>A	ENST00000471889.1	+	5	1270	c.885G>A	c.(883-885)ccG>ccA	p.P295P	SLC45A1_ENST00000377479.2_Silent_p.P329P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.P295P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	295					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			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)		CGCTGCGGCCGCCGAGTGAGA	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11505	0.0		0.0	False		,,,				2504	0.0					ENST00000471889.1	0.690000	0.210000	5.500000e-01	3.000000e-01	0.410000	0.431747	0.410000	0.400000																										0				33						c.(883-885)ccG>ccA		solute carrier family 45, member 1							20.0	23.0	22.0					1																	8390438		2190	4280	6470	SO:0001819	synonymous_variant	50651	7	121310	38				g.chr1:8390438G>A	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.885G>A	chr1.hg19:g.8390438G>A		1					SLC45A1_ENST00000377479.2_Silent_p.P329P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.P295P	p.P295P			0	1	1	1.838767	Q9Y2W3	S45A1_HUMAN		5	1270	+	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)	Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	1	1	hg19	c.885G>A	CCDS30577.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5	0	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.156795	1	0.170000				10	10		252	245	0		1	0		0	0	54	0		9.965343e-01	1.028855e-01	0	1	0	12	0	10	252
SLC45A1	50651	broad.mit.edu	37	1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	413					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			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)		GGCTTCTACCGCCAGGACCGT	0.687																																						ENST00000471889.1	0.810000	0.310000	6.800000e-01	4.100000e-01	0.530000	0.554239	0.530000	0.530000																										0				33						c.(1237-1239)cGc>cAc		solute carrier family 45, member 1							27.0	29.0	28.0					1																	8390791		2202	4299	6501	SO:0001583	missense	50651	16	121404	42				g.chr1:8390791G>A	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.1238G>A	chr1.hg19:g.8390791G>A	ENSP00000418096:p.Arg413His	1					SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR	p.R413H			0	1	1	1.838767	Q9Y2W3	S45A1_HUMAN		5	1623	+	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)	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	1	1	hg19	c.1238G>A	CCDS30577.1	0	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745892	0.15710	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.17691	2.27;2.26;2.27	4.45	1.4	0.22301	4.45	1.4	0.22301	.	1.298210	0.04555	N	0.390578	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.41790	T	0.15	-13.1605	7.6663	0.28432	0.421:0.0:0.579:0.0	.	413	Q9Y2W3	S45A1_HUMAN	H	413;447;413	ENSP00000418096:R413H;ENSP00000366699:R447H;ENSP00000289877:R413H	ENSP00000289877:R413H	R	+	2	0	0	SLC45A1	8313378	8313378	0.001000	0.12720	0.945000	0.38365	0.434000	0.31775	0.196000	0.17176	-0.000000	0.14550	0.561000	0.74099	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5	1	0	1		2	2	2	0		0	0	69		69	65	1	2.060000	-16.813350	1	0.170000				15	14		283	278	1		1	1		0	0	69	0		9.998629e-01	3.625002e-01	0	6	0	17	0	15	283
RERE	473	broad.mit.edu	37	1	8418946	8418946	+	Missense_Mutation	SNP	G	G	A	rs202220461	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	ENST00000337907.3	-	21	4283	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000377464.1_Missense_Mutation_p.L949F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1217					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCACTGAGGCGACCTTCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15858	0.002		0.0	False		,,,				2504	0.0					ENST00000337907.3	0.990000	0.670000	9.600000e-01	7.700000e-01	0.870000	0.868595	0.870000	0.910000																										0				49						c.(3649-3651)Ctc>Ttc		arginine-glutamic acid dipeptide (RE) repeats							80.0	78.0	79.0					1																	8418946		2203	4300	6503	SO:0001583	missense	473	1	121238	34				g.chr1:8418946G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3649C>T	chr1.hg19:g.8418946G>A	ENSP00000338629:p.Leu1217Phe	1					RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000400907.2_Intron	p.L1217F	NM_012102.3	NP_036234.3	0	1	1	1.838767	Q9P2R6	RERE_HUMAN		21	4283	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	1	1	hg19	c.3649C>T	CCDS95.1	1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	13.97	2.396681	0.42512	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.48201	0.82;0.82;0.82	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	T	0.52224	0.1721	L	0.42245	1.32	0.53688	D	0.999977	D	0.76494	0.999	D	0.73708	0.981	T	0.46091	-0.9216	9	0.18276	T	0.48	-30.6131	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1217	Q9P2R6	RERE_HUMAN	F	1217;949;663;1217	ENSP00000338629:L1217F;ENSP00000366684:L949F;ENSP00000383700:L1217F	ENSP00000338629:L1217F	L	-	1	0	0	RERE	8341533	8341533	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	6.584000	0.74057	2.713000	0.92767	0.655000	0.94253	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-13.683080	1	0.170000				50	47		534	525	0		1	1		0	0	121	0		1	9.977575e-01	0	9	0	90	0	50	534
RERE	473	broad.mit.edu	37	1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	672					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562																																						ENST00000337907.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.980139	0.980000	0.990000																										0				49						c.(2014-2016)Cag>Tag		arginine-glutamic acid dipeptide (RE) repeats							91.0	86.0	88.0					1																	8421825		2203	4300	6503	SO:0001587	stop_gained	473	0	0					g.chr1:8421825G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2014C>T	chr1.hg19:g.8421825G>A	ENSP00000338629:p.Gln672*	1					RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000400907.2_Intron	p.Q672*	NM_012102.3	NP_036234.3	0	1	1	1.838767	Q9P2R6	RERE_HUMAN		18	2648	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	ENST00000337907.3	0	1	hg19	c.2014C>T	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.035055	0.99321	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.8783	18.2489	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	672;404;118;672;92	.	ENSP00000338629:Q672X	Q	-	1	0	0	RERE	8344412	8344412	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.951000	0.87819	2.576000	0.86940	0.561000	0.74099	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				65	65		252	247	1		1	1		0	0	67	0		1	1	0	4	0	99	0	65	252
RERE	473	broad.mit.edu	37	1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000377464.1_Missense_Mutation_p.P285L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	553					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602																																						ENST00000337907.3	1.000000	0.680000	9.700000e-01	7.800000e-01	0.880000	0.881162	0.880000	0.950000																										0				49						c.(1657-1659)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats							87.0	82.0	83.0					1																	8424198		2203	4300	6503	SO:0001583	missense	473	0	0					g.chr1:8424198G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1658C>T	chr1.hg19:g.8424198G>A	ENSP00000338629:p.Pro553Leu	1					RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000400907.2_Intron	p.P553L	NM_012102.3	NP_036234.3	0	1	1	1.838767	Q9P2R6	RERE_HUMAN		16	2292	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	1	1	hg19	c.1658C>T	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	T;T;T	0.50548	0.76;0.74;0.76	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	T	0.63022	0.2476	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.64495	-0.6394	9	0.72032	D	0.01	-20.5155	17.9071	0.88921	0.0:0.0:1.0:0.0	.	285;553	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	553;285;553	ENSP00000338629:P553L;ENSP00000366684:P285L;ENSP00000383700:P553L	ENSP00000338629:P553L	P	-	2	0	0	RERE	8346785	8346785	1.000000	0.71417	0.967000	0.41034	0.226000	0.24999	9.212000	0.95126	2.711000	0.92665	0.561000	0.74099	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	1	0	1		17	2	2	0		0	1	90		90	88	1	2.060000	-3.221883	1	0.170000				42	25		423	414	0		1	1		0	0	90	0		9.995352e-01	9.993501e-01	0	8	0	104	0	42	423
RERE	473	broad.mit.edu	37	1	8716278	8716278	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8716278C>A	ENST00000337907.3	-	3	713	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	RERE_ENST00000400908.2_Missense_Mutation_p.D27Y|RERE_ENST00000400907.2_Missense_Mutation_p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	27					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGCTTTGTCTCTTTTCtct	0.507																																						ENST00000337907.3	0.270000	0.110000	2.300000e-01	1.400000e-01	0.180000	0.189324	0.180000	0.180000																										0				49						c.(79-81)Gac>Tac		arginine-glutamic acid dipeptide (RE) repeats							158.0	161.0	160.0					1																	8716278		2203	4300	6503	SO:0001583	missense	473	1	121412	35				g.chr1:8716278C>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.79G>T	chr1.hg19:g.8716278C>A	ENSP00000338629:p.Asp27Tyr	1					RERE_ENST00000400908.2_Missense_Mutation_p.D27Y|RERE_ENST00000400907.2_Missense_Mutation_p.D27Y	p.D27Y	NM_012102.3	NP_036234.3	0	1	1	1.838767	Q9P2R6	RERE_HUMAN		3	713	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	0	1	hg19	c.79G>T	CCDS95.1	0	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536675	0.65085	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.51325	0.71;0.71	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	T	0.49253	0.1546	N	0.19112	0.55	0.58432	D	0.999997	D	0.55385	0.971	P	0.54401	0.751	T	0.54794	-0.8240	9	0.87932	D	0	-16.1566	17.8703	0.88808	0.0:1.0:0.0:0.0	.	27	Q9P2R6	RERE_HUMAN	Y	27	ENSP00000338629:D27Y;ENSP00000383700:D27Y	ENSP00000338629:D27Y	D	-	1	0	0	RERE	8638865	8638865	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.240000	0.78192	2.553000	0.86117	0.557000	0.71058	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0	0	1		2	2	2	0		0	0	187		187	199	1	2.060000	-3.018858	1	0.170000				21	20		1218	1159	0		1	0		0	0	187	0		9.999955e-01	1.782305e-01	0	1	0	42	0	21	1218
ENO1	2023	broad.mit.edu	37	1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	376					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-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)		GGTATCTTCAGTCTCCCCCGA	0.547											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4	0.880000	0.250000	7.200000e-01	3.700000e-01	0.530000	0.553495	0.530000	0.510000																										0				10						c.(1126-1128)aCt>aTt		enolase 1, (alpha)							134.0	121.0	126.0					1																	8923343		2203	4300	6503	SO:0001583	missense	2023	10	121412	37				g.chr1:8923343G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1127C>T	chr1.hg19:g.8923343G>A	ENSP00000234590:p.Thr376Ile	1		OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.T376I	NM_001428.3	NP_001419.1	0	1	1	1.838767	P06733	ENOA_HUMAN		10	1246	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	1	1	hg19	c.1127C>T	CCDS97.1	0	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020741	0.93462	.	.	ENSG00000074800	ENST00000234590	T	0.26067	1.76	5.46	5.46	0.80206	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98901	4.365	0.58432	D	0.999994	P;D;D;P;D;D	0.89917	0.886;0.999;0.971;0.886;0.999;1.0	D;D;D;D;D;D	0.91635	0.964;0.998;0.964;0.94;0.996;0.999	D	0.83613	0.0135	10	0.87932	D	0	-37.9347	18.2966	0.90148	0.0:0.0:1.0:0.0	.	77;280;214;126;283;376	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	I	376	ENSP00000234590:T376I	ENSP00000234590:T376I	T	-	2	0	0	ENO1	8845930	8845930	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.712000	0.98738	2.586000	0.87340	0.561000	0.74099	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	0	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-11.070460	1	0.170000	NM_001428			8	7		152	149	1		1	1		0	0	48	0		9.888377e-01	1	0	697	0	6568	0	8	152
ENO1	2023	broad.mit.edu	37	1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	52					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-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)		AGTCTTATCATTGTCCCGGAG	0.542											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.955740	0.960000	0.990000																										0				10						c.(154-156)aAt>aTt		enolase 1, (alpha)							180.0	158.0	166.0					1																	8931976		2203	4300	6503	SO:0001583	missense	2023	0	0					g.chr1:8931976T>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.155A>T	chr1.hg19:g.8931976T>A	ENSP00000234590:p.Asn52Ile	1		OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.N52I	NM_001428.3	NP_001419.1	0	1	1	1.838767	P06733	ENOA_HUMAN		3	274	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	1	1	hg19	c.155A>T	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704455	0.88924	.	.	ENSG00000074800	ENST00000234590	T	0.31247	1.5	5.87	5.87	0.94306	5.87	5.87	0.94306	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89785	3.06	0.39911	D	0.974039	B;B	0.31256	0.154;0.316	P;P	0.48795	0.59;0.486	T	0.65903	-0.6055	10	0.87932	D	0	-29.3646	15.0982	0.72253	0.0:0.0:0.0:1.0	.	19;52	A4UCS8;P06733	.;ENOA_HUMAN	I	52	ENSP00000234590:N52I	ENSP00000234590:N52I	N	-	2	0	0	ENO1	8854563	8854563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.174000	0.58256	2.253000	0.74438	0.533000	0.62120	AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_001428			64	64		478	463	1		1	1		0	0	157	0		1	1	0	937	0	4825	0	64	478
CA6	765	broad.mit.edu	37	1	9019051	9019051	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9019051C>T	ENST00000377443.2	+	4	495	c.491C>T	c.(490-492)gCc>gTc	p.A164V	CA6_ENST00000377442.2_Missense_Mutation_p.A104V|CA6_ENST00000377436.3_Missense_Mutation_p.A164V|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	164					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GTACTGGCAGCCTTCGTTGAG	0.413																																						ENST00000377443.2	1.000000	0.760000	9.800000e-01	8.400000e-01	0.920000	0.918071	0.920000	0.990000																										0				16						c.(490-492)gCc>gTc		carbonic anhydrase VI	Mafenide(DB06795)|Zonisamide(DB00909)						146.0	149.0	148.0					1																	9019051		2203	4300	6503	SO:0001583	missense	765	0	0					g.chr1:9019051C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.491C>T	chr1.hg19:g.9019051C>T	ENSP00000366662:p.Ala164Val	1					CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.A104V|CA6_ENST00000377436.3_Missense_Mutation_p.A164V	p.A164V	NM_001215.3	NP_001206.2	0	1	1	1.838767	P23280	CAH6_HUMAN		4	495	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	1	0	hg19	c.491C>T	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	C	1.521	-0.546827	0.04024	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.11	-1.43	0.08884	5.11	-1.43	0.08884	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.775342	0.12733	N	0.443663	T	0.16557	0.0398	N	0.00873	-1.125	0.09310	N	1	P;B	0.38992	0.653;0.308	B;B	0.25884	0.064;0.064	T	0.39981	-0.9587	10	0.02654	T	1	.	5.5065	0.16856	0.0:0.4073:0.1422:0.4505	.	104;164	E7EMQ1;P23280	.;CAH6_HUMAN	V	132;164;164;104	ENSP00000447108:A132V;ENSP00000366662:A164V;ENSP00000366654:A164V;ENSP00000366661:A104V	ENSP00000366654:A164V	A	+	2	0	0	CA6	8941638	8941638	0.043000	0.20138	0.000000	0.03702	0.168000	0.22595	0.500000	0.22562	-0.203000	0.10251	-0.165000	0.13383	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-1.690405	0	0.170000				72	68		697	686	0		1			0	0	161	0		1	0	0	0	0	0	0	72	697
CA6	765	broad.mit.edu	37	1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377443.2	+	7	777	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000377442.2_Missense_Mutation_p.T198I|CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	258					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CGCAACAAGACCATCCACAAC	0.512																																						ENST00000377443.2	1.000000	0.900000	1	9.500000e-01	0.980000	0.977351	0.980000	0.990000																										0				16						c.(772-774)aCc>aTc		carbonic anhydrase VI	Mafenide(DB06795)|Zonisamide(DB00909)						153.0	140.0	144.0					1																	9030969		2203	4300	6503	SO:0001583	missense	765	0	0					g.chr1:9030969C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.773C>T	chr1.hg19:g.9030969C>T	ENSP00000366662:p.Thr258Ile	1					CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T198I|CA6_ENST00000377436.3_Missense_Mutation_p.T258I	p.T258I	NM_001215.3	NP_001206.2	0	1	1	1.838767	P23280	CAH6_HUMAN		7	777	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	1	1	hg19	c.773C>T	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639481	0.29157	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.68025	-0.3;-0.3;-0.3	5.57	3.71	0.42584	5.57	3.71	0.42584	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.492459	0.22962	N	0.053539	T	0.73659	0.3615	L	0.56199	1.76	0.24211	N	0.995473	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	T	0.62530	-0.6835	10	0.41790	T	0.15	.	8.7616	0.34678	0.0:0.8251:0.0:0.1749	.	198;258	E7EMQ1;P23280	.;CAH6_HUMAN	I	258;258;198	ENSP00000366662:T258I;ENSP00000366654:T258I;ENSP00000366661:T198I	ENSP00000366654:T258I	T	+	2	0	0	CA6	8953556	8953556	0.992000	0.36948	0.034000	0.17996	0.008000	0.06430	3.136000	0.50554	0.721000	0.32231	0.205000	0.17691	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1	1	0	1		2	2	2	0		0	0	153		153	150	1	2.060000	-20.000000	1	0.170000				81	79		462	451	1		1			0	0	153	0		1	0	0	0	0	0	0	81	462
GPR157	80045	broad.mit.edu	37	1	9188913	9188913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	ENST00000377411.4	-	1	316	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_ENST00000414642.2_Silent_p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGAGAGCAGGTCGGCCA	0.721																																						ENST00000377411.4	1.000000	0.610000	9.800000e-01	7.700000e-01	0.900000	0.879875	0.900000	0.990000																										0				5						c.(172-174)ctG>ctA		G protein-coupled receptor 157							11.0	11.0	11.0					1																	9188913		2182	4280	6462	SO:0001819	synonymous_variant	80045	0	0					g.chr1:9188913C>T	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.174G>A	chr1.hg19:g.9188913C>T		1					GPR157_ENST00000414642.2_Silent_p.L58L	p.L58L	NM_024980.4	NP_079256.4	0	1	1	1.838767	Q5UAW9	GP157_HUMAN		1	316	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	0	1	hg19	c.174G>A	CCDS100.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.721	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999930	1	0.170000	NM_024980			10	10		45	44	0		1	1		0	0	12	0		9.975552e-01	1.753422e-01	0	2	0	2	0	10	45
H6PD	9563	broad.mit.edu	37	1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G	rs201786227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	71	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		ACAGCCCCCAAGCAGGGTCAA	0.572																																						ENST00000377403.2	1.000000	0.870000	1	9.300000e-01	0.970000	0.969982	0.970000	0.990000																										0				23						c.(211-213)aAg>aGg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)							63.0	60.0	61.0					1																	9305205		2203	4300	6503	SO:0001583	missense	9563	0	0					g.chr1:9305205A>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.212A>G	chr1.hg19:g.9305205A>G	ENSP00000366620:p.Lys71Arg	1					H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	p.K71R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	0	1	1	1.838767	O95479	G6PE_HUMAN		2	514	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	1	1	hg19	c.212A>G	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	a	14.41	2.528407	0.44969	.	.	ENSG00000049239	ENST00000377403	T	0.63255	-0.03	5.31	-0.342	0.12635	5.31	-0.342	0.12635	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.671439	0.15732	N	0.247370	T	0.45776	0.1359	L	0.38175	1.15	0.09310	N	0.999991	B	0.10296	0.003	B	0.09377	0.004	T	0.33394	-0.9870	10	0.51188	T	0.08	-5.7056	6.1322	0.20211	0.6308:0.1522:0.217:0.0	.	71	O95479	G6PE_HUMAN	R	71	ENSP00000366620:K71R	ENSP00000366620:K71R	K	+	2	0	0	H6PD	9227792	9227792	0.869000	0.29996	0.770000	0.31555	0.936000	0.57629	1.800000	0.38833	-0.129000	0.11620	-0.332000	0.08345	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_004285			44	43		170	164	1		1	1		0	0	51	0		1	9.999375e-01	0	6	0	54	0	44	170
H6PD	9563	broad.mit.edu	37	1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	684	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCCAACAGCAGCTTCGAC	0.667																																						ENST00000377403.2	1.000000	0.900000	1	9.400000e-01	0.970000	0.975757	0.970000	0.990000																										0				23						c.(2050-2052)aGc>aTc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)							56.0	57.0	57.0					1																	9324603		2203	4299	6502	SO:0001583	missense	9563	0	0					g.chr1:9324603G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2051G>T	chr1.hg19:g.9324603G>T	ENSP00000366620:p.Ser684Ile	1					H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	p.S684I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	0	1	1	1.838767	O95479	G6PE_HUMAN		5	2353	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	1	1	hg19	c.2051G>T	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533434	0.45073	.	.	ENSG00000049239	ENST00000377403	T	0.45668	0.89	5.72	3.75	0.43078	5.72	3.75	0.43078	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.290238	0.43579	D	0.000548	T	0.33585	0.0868	L	0.39692	1.235	0.53688	D	0.999978	B	0.28128	0.201	B	0.35182	0.197	T	0.29882	-0.9997	10	0.72032	D	0.01	-21.6768	4.5196	0.11952	0.0826:0.2441:0.541:0.1322	.	684	O95479	G6PE_HUMAN	I	684	ENSP00000366620:S684I	ENSP00000366620:S684I	S	+	2	0	0	H6PD	9247190	9247190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.360000	0.59455	1.432000	0.47375	-0.258000	0.10820	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_004285			76	75		434	428	1		1	1		0	0	95	0		1	9.998730e-01	0	11	0	65	0	76	434
H6PD	9563	broad.mit.edu	37	1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A	rs370332134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	728	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CCACACCGCCGCATGAGCCTT	0.657																																						ENST00000377403.2	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.931297	0.940000	0.990000																										0				23						c.(2182-2184)cGc>cAc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)							34.0	32.0	33.0					1																	9324735		2203	4298	6501	SO:0001583	missense	9563	3	121390	42				g.chr1:9324735G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2183G>A	chr1.hg19:g.9324735G>A	ENSP00000366620:p.Arg728His	1					H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	p.R728H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	0	1	1	1.838767	O95479	G6PE_HUMAN		5	2485	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	1	1	hg19	c.2183G>A	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883390	0.91740	.	.	ENSG00000049239	ENST00000377403	T	0.71579	-0.58	5.72	5.72	0.89469	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.047987	0.85682	D	0.000000	D	0.91284	0.7252	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94410	0.7631	10	0.87932	D	0	-37.7311	18.8652	0.92289	0.0:0.0:1.0:0.0	.	728	O95479	G6PE_HUMAN	H	728	ENSP00000366620:R728H	ENSP00000366620:R728H	R	+	2	0	0	H6PD	9247322	9247322	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.340000	0.97038	2.709000	0.92574	0.561000	0.74099	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1		2	2	2	0		0	0	58		58	26	1	2.060000	-3.018331	1	0.170000	NM_004285			32	26		221	170	1		1	1		0	0	58	0		1	9.986675e-01	0	3	0	70	0	32	221
H6PD	9563	broad.mit.edu	37	1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	778	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCACTCCGGCCAGCTGGT	0.647																																						ENST00000377403.2	0.980000	0.470000	9.000000e-01	6.000000e-01	0.750000	0.751406	0.750000	0.760000																										0				23						c.(2332-2334)Ggc>Agc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)							26.0	28.0	27.0					1																	9324884		2190	4277	6467	SO:0001583	missense	9563	12	121012	40				g.chr1:9324884G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2332G>A	chr1.hg19:g.9324884G>A	ENSP00000366620:p.Gly778Ser	1					H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	p.G778S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	0	1	1	1.838767	O95479	G6PE_HUMAN		5	2634	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	1	1	hg19	c.2332G>A	CCDS101.1	0	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98617	-5.03	5.73	5.73	0.89815	5.73	5.73	0.89815	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99913	1.1211	10	0.72032	D	0.01	-39.1146	18.894	0.92416	0.0:0.0:1.0:0.0	.	778	O95479	G6PE_HUMAN	S	778	ENSP00000366620:G778S	ENSP00000366620:G778S	G	+	1	0	0	H6PD	9247471	9247471	1.000000	0.71417	0.935000	0.37517	0.006000	0.05464	7.600000	0.82769	2.716000	0.92895	0.561000	0.74099	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-6.842856	1	0.170000	NM_004285			18	18		228	221	0		1	1		0	0	35	0		9.999804e-01	9.936002e-01	0	6	0	100	0	18	228
SPSB1	80176	broad.mit.edu	37	1	9416403	9416403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	151	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592																																						ENST00000328089.6	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.904947	0.910000	0.990000																										0				13						c.(451-453)caC>caT		splA/ryanodine receptor domain and SOCS box containing 1							88.0	74.0	79.0					1																	9416403		2203	4300	6503	SO:0001819	synonymous_variant	80176	18	121412	44				g.chr1:9416403C>T		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.453C>T	chr1.hg19:g.9416403C>T		1					SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	p.H151H	NM_025106.3	NP_079382.2	0	1	1	1.838767	Q96BD6	SPSB1_HUMAN		2	794	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	1	1	hg19	c.453C>T	CCDS102.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-14.572150	1	0.170000	NM_025106			45	45		421	411	0		1	1		0	0	91	0		1	1	0	7	0	323	0	45	421
SPSB1	80176	broad.mit.edu	37	1	9416645	9416645	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCGATCGTAAGTGTCTC	0.532																																						ENST00000328089.6	0.830000	0.310000	7.000000e-01	4.100000e-01	0.540000	0.562427	0.540000	0.530000																										0				13						c.e2+1		splA/ryanodine receptor domain and SOCS box containing 1							66.0	66.0	66.0					1																	9416645		2203	4300	6503	SO:0001630	splice_region_variant	80176	0	0					g.chr1:9416645G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.694+1G>A	chr1.hg19:g.9416645G>A		1					SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site		NM_025106.3	NP_079382.2	0	1	1	1.838767	Q96BD6	SPSB1_HUMAN		2	1035	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Splice_Site	SNP	ENST00000328089.6	1	1	hg19		CCDS102.1	0	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531086	0.64972	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SPSB1	9339232	9339232	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.799000	0.99117	2.397000	0.81536	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	1	0	0		2	2	2	0		0	0	66		66	65	1	2.060000	-2.967585	1	0.170000	NM_025106	Intron		14	14		260	256	0		1	1		0	0	66	0		9.997510e-01	2.773532e-02	0	5	0	0	0	14	260
TMEM201	199953	broad.mit.edu	37	1	9661306	9661306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340381.6	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000340305.5_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697																																						ENST00000340381.6	0.790000	0.340000	6.700000e-01	4.300000e-01	0.540000	0.556415	0.540000	0.530000																										0				4						c.(748-750)ctG>ctA		transmembrane protein 201							44.0	46.0	45.0					1																	9661306		2203	4298	6501	SO:0001819	synonymous_variant	199953	0	0					g.chr1:9661306G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.750G>A	chr1.hg19:g.9661306G>A		1					TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340305.5_Silent_p.L250L	p.L250L	NM_001130924.2	NP_001124396.2	0	1	1	1.838767	Q5SNT2	TM201_HUMAN		5	759	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	1	1	hg19	c.750G>A	CCDS44055.2	0	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223772	0.22457	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.06	0.47325	4.98	4.06	0.47325	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	-15.5829	9.92	0.41459	0.0961:0.0:0.9039:0.0	.	.	.	.	T	160	.	.	A	+	1	0	0	TMEM201	9583893	9583893	0.988000	0.35896	0.999000	0.59377	0.943000	0.58893	1.617000	0.36943	1.069000	0.40788	0.563000	0.77884	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.978280	1	0.170000	NM_001010866			20	19		374	370	0		1	1		0	0	67	0		9.999950e-01	4.363811e-01	0	3	0	25	0	20	374
TMEM201	199953	broad.mit.edu	37	1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340381.6	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000340305.5_Missense_Mutation_p.G304S|TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	304					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGCACTGGGCCTACTCAC	0.672																																						ENST00000340381.6	0.680000	0.270000	5.700000e-01	3.500000e-01	0.450000	0.466748	0.450000	0.440000																										0				4						c.(910-912)Ggc>Agc		transmembrane protein 201							37.0	41.0	40.0					1																	9661466		2203	4297	6500	SO:0001583	missense	199953	0	0					g.chr1:9661466G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.910G>A	chr1.hg19:g.9661466G>A	ENSP00000344503:p.Gly304Ser	1					TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340305.5_Missense_Mutation_p.G304S	p.G304S	NM_001130924.2	NP_001124396.2	0	1	1	1.838767	Q5SNT2	TM201_HUMAN		5	919	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	1	1	hg19	c.910G>A	CCDS44055.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031350|4.031350	0.75504|0.75504	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.70432|0.70432	-0.4873|-0.4873	6|9	.|0.72032	.|D	.|0.01	-37.3398|-37.3398	14.3284|14.3284	0.66534|0.66534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304;304	.|E9PBR6;Q5SNT2-2	.|.;.	E|S	213|304	.|.	.|ENSP00000344772:G304S	G|G	+|+	2|1	0|0	0|0	TMEM201|TMEM201	9584053|9584053	9584053|9584053	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.379000|0.379000	0.30106|0.30106	6.604000|6.604000	0.74150|0.74150	2.160000|2.160000	0.67779|0.67779	0.563000|0.563000	0.77884|0.77884	GGG|GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-16.521900	1	0.170000	NM_001010866			16	17		364	356	0		1	0		0	0	73	0		9.999268e-01	4.803746e-02	0	0	0	8	0	16	364
PIK3CD	5293	broad.mit.edu	37	1	9776551	9776551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000377346.4	+	6	849	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000536656.1_Silent_p.A218A	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	218	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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)			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)	CGCTGATGGCCTGTGCCCTGC	0.657																																						ENST00000377346.4	0.990000	0.550000	9.500000e-01	6.900000e-01	0.830000	0.822525	0.830000	0.900000																										0				31						c.(652-654)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	Caffeine(DB00201)						46.0	38.0	41.0					1																	9776551		2203	4300	6503	SO:0001819	synonymous_variant	5293	0	0					g.chr1:9776551C>T		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.654C>T	chr1.hg19:g.9776551C>T		1					PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000536656.1_Silent_p.A218A	p.A218A	NM_005026.3	NP_005017.3	0	1	1	1.838767	O00329	PK3CD_HUMAN		6	849	+	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)	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	1	1	hg19	c.654C>T	CCDS104.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_005026			19	18		199	196	0		1	0		0	0	43	0		9.999913e-01	4.891799e-01	0	0	0	18	0	19	199
PIK3CD	5293	broad.mit.edu	37	1	9780047	9780047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000377346.4	+	10	1506	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R	PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000536656.1_Silent_p.R402R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	437	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)			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)	CCGGGGAACGCTGCCTCTACA	0.622																																						ENST00000377346.4	1.000000	0.950000	1	9.700000e-01	0.990000	0.992142	0.990000	0.990000																										0				31						c.(1309-1311)cgC>cgT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	Caffeine(DB00201)						138.0	125.0	130.0					1																	9780047		2203	4300	6503	SO:0001819	synonymous_variant	5293	0	0					g.chr1:9780047C>T		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.1311C>T	chr1.hg19:g.9780047C>T		1					PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000536656.1_Silent_p.R402R	p.R437R	NM_005026.3	NP_005017.3	0	1	1	1.838767	O00329	PK3CD_HUMAN		10	1506	+	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)	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	1	1	hg19	c.1311C>T	CCDS104.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	0		2	2	2	0		0	0	200		200	199	1	2.060000	-20.000000	1	0.170000	NM_005026			158	153		708	700	1		1	1		0	0	200	0		1	9.277461e-01	0	4	0	18	0	158	708
PIK3CD	5293	broad.mit.edu	37	1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000377346.4	+	13	1829	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)	TTCCCGGAGGCGCTAGCCCGG	0.667																																						ENST00000377346.4	1.000000	0.550000	9.700000e-01	7.200000e-01	0.870000	0.848714	0.870000	0.990000																										0				31						c.(1633-1635)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	Caffeine(DB00201)						42.0	45.0	44.0					1																	9780912		2202	4298	6500	SO:0001583	missense	5293	0	0					g.chr1:9780912C>T		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.1634C>T	chr1.hg19:g.9780912C>T	ENSP00000366563:p.Ala545Val	1					PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V	p.A545V	NM_005026.3	NP_005017.3	0	1	1	1.838767	O00329	PK3CD_HUMAN		13	1829	+	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)	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	0	1	hg19	c.1634C>T	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515702	0.27123	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.43	4.52	0.55395	5.43	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.237329	0.42172	D	0.000748	T	0.68063	0.2960	M	0.71206	2.165	0.32002	N	0.603162	B;P;P	0.43885	0.069;0.82;0.683	B;B;B	0.43082	0.045;0.336;0.407	T	0.75572	-0.3271	10	0.41790	T	0.15	-16.7881	14.1326	0.65266	0.0:0.927:0.0:0.073	.	544;569;545	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	569;545;569;569;212	ENSP00000446444:A569V;ENSP00000366563:A545V;ENSP00000354410:A569V;ENSP00000443811:A212V	ENSP00000353766:A569V	A	+	2	0	0	PIK3CD	9703499	9703499	1.000000	0.71417	0.929000	0.37066	0.008000	0.06430	3.927000	0.56499	1.299000	0.44798	0.505000	0.49811	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.360180	1	0.170000	NM_005026			11	11		80	79	0		1	1		0	0	13	0		9.985986e-01	8.323000e-01	0	5	0	21	0	11	80
PIK3CD	5293	broad.mit.edu	37	1	9782362	9782362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9782362C>T	ENST00000377346.4	+	18	2490	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	PIK3CD_ENST00000361110.2_Silent_p.N789N|PIK3CD_ENST00000536656.1_Silent_p.N789N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	765					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)			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)	TGTACAGCAACGAGGAGGCAG	0.647																																						ENST00000377346.4	0.860000	0.180000	6.700000e-01	3.000000e-01	0.460000	0.493313	0.460000	0.430000																										0				31						c.(2293-2295)aaC>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	Caffeine(DB00201)						35.0	35.0	35.0					1																	9782362		2202	4300	6502	SO:0001819	synonymous_variant	5293	0	0					g.chr1:9782362C>T		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.2295C>T	chr1.hg19:g.9782362C>T		1					PIK3CD_ENST00000361110.2_Silent_p.N789N|PIK3CD_ENST00000536656.1_Silent_p.N789N	p.N765N	NM_005026.3	NP_005017.3	0	1	1	1.838767	O00329	PK3CD_HUMAN		18	2490	+	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)	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	0	1	hg19	c.2295C>T	CCDS104.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	0	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-4.170553	1	0.170000	NM_005026			5	5		111	107	0		1	0		0	0	20	0		9.330538e-01	4.057563e-01	0	0	0	28	0	5	111
CLSTN1	22883	broad.mit.edu	37	1	9790629	9790629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.G951G|CLSTN1_ENST00000377288.3_Silent_p.G942G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	961					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGGGGTCGCCCTGCTCCC	0.637																																						ENST00000377298.4	0.580000	0.220000	4.800000e-01	2.900000e-01	0.370000	0.392318	0.370000	0.370000																										0				36						c.(2881-2883)ggC>ggT		calsyntenin 1							97.0	82.0	87.0					1																	9790629		2203	4300	6503	SO:0001819	synonymous_variant	22883	3	121412	35				g.chr1:9790629G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2883C>T	chr1.hg19:g.9790629G>A		1					CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000361311.4_Silent_p.G951G	p.G961G	NM_001009566.1	NP_001009566.1	0	1	1	1.838767	O94985	CSTN1_HUMAN		19	3675	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	1	1	hg19	c.2883C>T	CCDS30580.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.625066	1	0.170000				15	14		412	398	1		1	1		0	0	70	0		9.998385e-01	9.999990e-01	0	65	0	674	0	15	412
LZIC	84328	broad.mit.edu	37	1	9990509	9990509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9990509C>A	ENST00000377223.1	-	8	768	c.521G>T	c.(520-522)gGa>gTa	p.G174V	LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	174					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AATTTTGTCTCCAGAGCCTAA	0.313																																						ENST00000377223.1	0.540000	0.280000	4.800000e-01	3.300000e-01	0.400000	0.410918	0.400000	0.400000																										0				7						c.(520-522)gGa>gTa		leucine zipper and CTNNBIP1 domain containing							152.0	165.0	161.0					1																	9990509		2203	4300	6503	SO:0001583	missense	84328	0	0					g.chr1:9990509C>A	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.521G>T	chr1.hg19:g.9990509C>A	ENSP00000366430:p.Gly174Val	1					LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V	p.G174V	NM_032368.3	NP_115744.2	0	1	1	1.838767	Q8WZA0	LZIC_HUMAN		8	768	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	B2R6F0|B4E2N0|Q96IU1	Missense_Mutation	SNP	ENST00000377223.1	1	1	hg19	c.521G>T	CCDS107.1	0	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381272	0.61845	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.47869	0.87;0.87;0.83;0.87	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.048348	0.85682	D	0.000000	T	0.54431	0.1858	L	0.49778	1.585	0.80722	D	1	P;P	0.39352	0.669;0.64	P;B	0.46419	0.516;0.38	T	0.44003	-0.9356	9	.	.	.	-14.9036	19.922	0.97089	0.0:1.0:0.0:0.0	.	195;174	B4E2N0;Q8WZA0	.;LZIC_HUMAN	V	174;174;195;174	ENSP00000366430:G174V;ENSP00000383695:G174V;ENSP00000437432:G195V;ENSP00000366418:G174V	.	G	-	2	0	0	LZIC	9913096	9913096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.848000	0.62874	2.780000	0.95670	0.655000	0.94253	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	0	0	1		2	2	2	0		0	0	225		225	225	1	2.060000	-2.987576	1	0.170000	NM_032368			34	34		871	854	0		1	0		0	0	225	0		1	7.174760e-01	0	1	0	65	0	34	871
SRRM1	10250	broad.mit.edu	37	1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-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)			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)		TAGTGGTAGACGGAGGAGAAG	0.547																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9	1.000000	0.870000	1	9.300000e-01	0.970000	0.968669	0.970000	0.990000																										0				36						c.(1636-1638)Cgg>Tgg		serine/arginine repetitive matrix 1							45.0	41.0	43.0					1																	24993313		2203	4300	6503	SO:0001583	missense	10250	0	0					g.chr1:24993313C>T	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.1636C>T	chr1.hg19:g.24993313C>T	ENSP00000326261:p.Arg546Trp	1					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000479034.1_3'UTR	p.R546W	NM_005839.3	NP_005830.2	0	1	1	1.828421	Q8IYB3	SRRM1_HUMAN		13	1951	+		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)	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	1	1	hg19	c.1636C>T	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865956	0.51588	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.58210	0.35;0.39;0.39	5.75	3.84	0.44239	5.75	3.84	0.44239	.	0.000000	0.56097	D	0.000026	T	0.50411	0.1614	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.993	P;B	0.47744	0.556;0.353	T	0.51293	-0.8724	10	0.72032	D	0.01	-1.6334	7.3672	0.26781	0.3668:0.5543:0.0:0.079	.	558;546	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	W	546;558;555	ENSP00000326261:R546W;ENSP00000391430:R558W;ENSP00000363510:R555W	ENSP00000326261:R546W	R	+	1	2	2	SRRM1	24865900	24865900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	0.723000	0.32274	0.650000	0.86243	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.521045	1	0.170000	NM_005839			45	45		192	185	0		1	1		0	0	33	0		1	1	0	36	0	93	0	45	192
SRRM1	10250	broad.mit.edu	37	1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	788	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			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)		ACCGGTCAAAAAGGCCAAAAG	0.517																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.957509	0.960000	0.990000																										0				36						c.(2362-2364)Aag>Cag		serine/arginine repetitive matrix 1							94.0	90.0	92.0					1																	24996768		2203	4300	6503	SO:0001583	missense	10250	0	0					g.chr1:24996768A>C	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.2362A>C	chr1.hg19:g.24996768A>C	ENSP00000326261:p.Lys788Gln	1					SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000479034.1_3'UTR	p.K788Q	NM_005839.3	NP_005830.2	0	1	1	1.828421	Q8IYB3	SRRM1_HUMAN		15	2677	+		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)	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	1	1	hg19	c.2362A>C	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929630	0.73327	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56275	0.68;0.47;0.47	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	T	0.48978	0.1530	L	0.46157	1.445	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.54296	-0.8315	10	0.62326	D	0.03	-3.162	15.7229	0.77728	1.0:0.0:0.0:0.0	.	800;788	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	788;800;797	ENSP00000326261:K788Q;ENSP00000391430:K800Q;ENSP00000363510:K797Q	ENSP00000326261:K788Q	K	+	1	0	0	SRRM1	24869355	24869355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.410000	0.90225	2.116000	0.64780	0.528000	0.53228	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_005839			67	67		500	480	1		1	1		0	0	109	0		1	1	0	27	0	184	0	67	500
SRRM1	10250	broad.mit.edu	37	1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	836	Ala-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)			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)		aagGAAAAGgctgtggctgca	0.498																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9	1.000000	0.720000	9.900000e-01	8.300000e-01	0.930000	0.915665	0.930000	0.990000																										0				36						c.(2506-2508)gCt>gTt		serine/arginine repetitive matrix 1							36.0	35.0	35.0					1																	24997983		2203	4295	6498	SO:0001583	missense	10250	0	0					g.chr1:24997983C>T	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.2507C>T	chr1.hg19:g.24997983C>T	ENSP00000326261:p.Ala836Val	1					SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000479034.1_3'UTR	p.A836V	NM_005839.3	NP_005830.2	0	1	1	1.828421	Q8IYB3	SRRM1_HUMAN		16	2822	+		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)	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	0	1	hg19	c.2507C>T	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138058	0.77775	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.47528	0.84;0.85;0.85	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.200219	0.34959	N	0.003541	T	0.32526	0.0832	N	0.12746	0.255	0.80722	D	1	P;B	0.36909	0.573;0.209	B;B	0.32090	0.14;0.066	T	0.23190	-1.0195	10	0.52906	T	0.07	-2.9051	18.6677	0.91497	0.0:1.0:0.0:0.0	.	848;836	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	836;848;845	ENSP00000326261:A836V;ENSP00000391430:A848V;ENSP00000363510:A845V	ENSP00000326261:A836V	A	+	2	0	0	SRRM1	24870570	24870570	0.998000	0.40836	0.989000	0.46669	0.983000	0.72400	4.973000	0.63763	2.741000	0.93983	0.650000	0.86243	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-12.055020	1	0.170000	NM_005839			22	22		141	135	1		1	1		0	0	36	0		9.999989e-01	9.999999e-01	0	27	0	161	0	22	141
RUNX3	864	broad.mit.edu	37	1	25229078	25229078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	ENST00000308873.6	-	5	791	c.783C>T	c.(781-783)agC>agT	p.S261S	RUNX3_ENST00000399916.1_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	261	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CTGGGAAGCGGCTCTCCGTGA	0.657																																						ENST00000308873.6	1.000000	0.760000	9.800000e-01	8.400000e-01	0.920000	0.916374	0.920000	0.990000																										0				18						c.(781-783)agC>agT		runt-related transcription factor 3							72.0	74.0	73.0					1																	25229078		2195	4294	6489	SO:0001819	synonymous_variant	864	0	0					g.chr1:25229078G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.783C>T	chr1.hg19:g.25229078G>A		1					RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000399916.1_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR	p.S261S	NM_004350.2	NP_004341.1	0	1	1	1.828421	Q13761	RUNX3_HUMAN		5	791	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	1	1	hg19	c.783C>T	CCDS257.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	0	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-18.557950	1	0.170000	NM_004350			71	70		690	663	0		1	0		0	0	113	0		1	8.879154e-01	0	0	0	39	0	71	690
RUNX3	864	broad.mit.edu	37	1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000338888.3	-	2	277	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP11-84D1.1_ENST00000456316.1_RNA|RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	0					axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGAGTAGGTCGGGAAGGAGTC	0.617																																						ENST00000338888.3	0.980000	0.360000	9.100000e-01	5.300000e-01	0.730000	0.721885	0.730000	0.780000																										0				18						c.(31-33)cCg>cTg		runt-related transcription factor 3							65.0	52.0	57.0					1																	25291031		2202	4300	6502	SO:0001583	missense	864	0	0					g.chr1:25291031G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.32C>T	chr1.hg19:g.25291031G>A	ENSP00000343477:p.Pro11Leu	1					RP11-84D1.1_ENST00000456316.1_RNA|RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L	p.P11L			0	1	1	1.828421	Q13761	RUNX3_HUMAN		2	277	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000338888.3	0	1	hg19	c.32C>T	CCDS30633.1	0	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786488	0.49997	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	D;D	0.96745	-4.11;-4.11	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.351698	0.20834	N	0.084826	D	0.93890	0.8045	N	0.11560	0.145	0.80722	D	1	D;B	0.61080	0.989;0.027	P;B	0.53490	0.727;0.01	D	0.94337	0.7567	10	0.51188	T	0.08	-20.3512	15.2825	0.73797	0.0:0.0:1.0:0.0	.	11;11	Q13761-2;B1AJV5	.;.	L	11	ENSP00000382800:P11L;ENSP00000343477:P11L	ENSP00000343477:P11L	P	-	2	0	0	RUNX3	25163618	25163618	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009285.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-3.145677	1	0.170000	NM_004350			7	7		81	80	1		1	0		0	0	16	0		9.813070e-01	3.216271e-01	0	0	0	13	0	7	81
SYF2	25949	broad.mit.edu	37	1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	214					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353																																						ENST00000236273.4	1.000000	0.950000	1	9.700000e-01	0.990000	0.991595	0.990000	0.990000																										0				6						c.(640-642)aGg>aTg		SYF2 pre-mRNA-splicing factor							189.0	193.0	192.0					1																	25549848		2203	4300	6503	SO:0001583	missense	25949	0	0					g.chr1:25549848C>A	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.641G>T	chr1.hg19:g.25549848C>A	ENSP00000236273:p.Arg214Met	1					SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	p.R214M	NM_015484.4	NP_056299.1	0	1	1	1.828421	O95926	SYF2_HUMAN		7	666	-		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)	Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	1	1	hg19	c.641G>T	CCDS259.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925336	0.52759	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.55052	0.54;0.58	5.56	4.65	0.58169	5.56	4.65	0.58169	.	0.130232	0.64402	D	0.000001	T	0.78444	0.4284	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.84341	0.0527	10	0.87932	D	0	-30.8613	13.5045	0.61477	0.0:0.9238:0.0:0.0762	.	214;214	B2RBX8;O95926	.;SYF2_HUMAN	M	214;172	ENSP00000236273:R214M;ENSP00000346330:R172M	ENSP00000236273:R214M	R	-	2	0	0	SYF2	25422435	25422435	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.409000	0.80053	1.491000	0.48482	-0.140000	0.14226	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_015484			124	120		415	408	1		1	1		0	0	140	0		1	1	0	164	0	332	0	124	415
RHD	6007	broad.mit.edu	37	1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	252						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			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)		CGTGGTGACAGCCATCTCAGG	0.547																																						ENST00000328664.4	0.560000	0.240000	4.700000e-01	3.100000e-01	0.380000	0.394301	0.380000	0.390000																										0				14						c.(754-756)Gcc>Tcc		Rh blood group, D antigen							181.0	139.0	154.0					1																	25628130		2128	3764	5892	SO:0001583	missense	6007	0	0					g.chr1:25628130G>T	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.754G>T	chr1.hg19:g.25628130G>T	ENSP00000331871:p.Ala252Ser	1					RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S	p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	1	3	4	2.313613	Q02161	RHD_HUMAN		5	909	+		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)	Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	1	1	hg19	c.754G>T	CCDS262.1	0	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848895	0.32699	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.8	3.8	0.43715	3.8	3.8	0.43715	Ammonium transporter AmtB-like (3);	0.112422	0.64402	D	0.000013	T	0.37128	0.0992	L	0.35723	1.085	0.48901	D	0.999723	D;P;D;P;P;D;P;P	0.69078	0.96;0.828;0.997;0.828;0.928;0.979;0.932;0.72	P;P;D;P;P;P;P;P	0.79108	0.764;0.58;0.992;0.654;0.687;0.87;0.859;0.654	T	0.06516	-1.0822	10	0.39692	T	0.17	-11.8312	11.213	0.48810	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252;252	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	S	252	ENSP00000331871:A252S;ENSP00000413849:A252S;ENSP00000339577:A252S;ENSP00000350150:A252S;ENSP00000396420:A252S;ENSP00000399640:A252S	ENSP00000331871:A252S	A	+	1	0	0	RHD	25500717	25500717	1.000000	0.71417	0.479000	0.27329	0.022000	0.10575	2.282000	0.43461	1.671000	0.50874	0.184000	0.17185	GCC	2.895660e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	0	0	1		2	2	2	0		0	0	210		210	208	1	2.060000	-3.181709	1	0.170000	NM_016124			24	24		843	835	0		1			0	0	210	0		9.999996e-01	0	0	0	0	0	0	24	843
RHCE	6006	broad.mit.edu	37	1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000349438.4	-	7	963	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	16						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537																																						ENST00000349438.4	1.000000	0.710000	9.700000e-01	8.000000e-01	0.890000	0.891752	0.890000	0.950000																										0				17						c.(943-945)tgG>tgA		Rh blood group, CcEe antigens							179.0	145.0	157.0					1																	25701914		2202	4295	6497	SO:0001587	stop_gained	6006	0	0					g.chr1:25701914C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349438.4:c.945G>A	chr1.hg19:g.25701914C>T	ENSP00000334570:p.Trp315*	1					RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D	p.W315*	NM_138618.3	NP_619524	0	1	1	1.827221	P18577	RHCE_HUMAN		7	963	-		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)	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Nonsense_Mutation	SNP	ENST00000349438.4	0	1	hg19	c.945G>A	CCDS30637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.05|11.05	1.523411|1.523411	0.27299|0.27299	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413|ENST00000425135;ENST00000447203;ENST00000349438	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;2.45;1.82|.	4.87|4.87	-0.203|-0.203	0.13204|0.13204	4.87|4.87	-0.203|-0.203	0.13204|0.13204	Ammonium transporter AmtB-like (3);|.	1.265480|.	0.05264|.	N|.	0.516210|.	T|.	0.48277|.	0.1491|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	A|A	1|1	B;B;D|.	0.89917|.	0.08;0.005;1.0|.	B;B;D|.	0.97110|.	0.074;0.005;1.0|.	T|.	0.51655|.	-0.8678|.	9|.	0.28530|0.23891	T|T	0.3|0.37	0.0295|0.0295	5.1073|5.1073	0.14790|0.14790	0.4748:0.395:0.0:0.1302|0.4748:0.395:0.0:0.1302	.|.	344;209;360|.	Q5VSJ9;E7EQ47;P18577|.	.;.;RHCE_HUMAN|.	D|X	289;255;344;344;38;209;360|269;359;315	ENSP00000416275:G255D;ENSP00000363472:G344D;ENSP00000311185:G344D;ENSP00000344485:G209D;ENSP00000294413:G360D|.	ENSP00000294413:G360D|ENSP00000334570:W315X	G|W	-|-	2|3	0|0	0|0	RHCE|RHCE	25574501|25574501	25574501|25574501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-2.016000|-2.016000	0.01446|0.01446	-0.254000|-0.254000	0.09500|0.09500	-0.158000|-0.158000	0.13435|0.13435	GGC|TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	RHCE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000101973.1	0	0	1		2	2	2	0		0	0	142		142	195	1	2.060000	-15.152460	1	0.170000	NM_020485			55	40		558	430	0		1	0		0	0	142	0		1	9.765793e-02	0	1	0	5	0	55	558
TMEM57	55219	broad.mit.edu	37	1	25784913	25784913	+	Silent	SNP	G	G	A	rs369257820		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	228					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)				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)		TGGATTCTTCGATCCTTATAC	0.403																																						ENST00000374343.4	1.000000	0.960000	1	9.800000e-01	0.990000	0.993252	0.990000	0.990000																										0				27						c.(682-684)tcG>tcA		transmembrane protein 57		G		0,4406		0,0,2203	115.0	127.0	123.0		684	-2.9	0.9	1		123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM57	NM_018202.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		228/665	25784913	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55219	2	121410	41				g.chr1:25784913G>A	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.684G>A	chr1.hg19:g.25784913G>A		1					TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	p.S228S	NM_018202.4	NP_060672.2	0	1	1	1.827221	Q8N5G2	MACOI_HUMAN		6	863	+		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)	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	1	1	hg19	c.684G>A	CCDS30638.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-20.000000	1	0.170000	NM_018202			157	151		589	576	1		1	1		0	0	165	0		1	1	0	29	0	77	0	157	589
TMEM57	55219	broad.mit.edu	37	1	25815742	25815742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	525					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)				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)		TGGACATGAAGGTGAAAGAAG	0.423																																						ENST00000374343.4	1.000000	0.890000	1	9.400000e-01	0.970000	0.974604	0.970000	0.990000																										0				27						c.(1573-1575)aaG>aaA		transmembrane protein 57							107.0	107.0	107.0					1																	25815742		2203	4300	6503	SO:0001819	synonymous_variant	55219	2	121412	30				g.chr1:25815742G>A	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.1575G>A	chr1.hg19:g.25815742G>A		1					TMEM57_ENST00000399763.3_Silent_p.K167K|TMEM57_ENST00000399766.3_Silent_p.K298K	p.K525K	NM_018202.4	NP_060672.2	0	1	1	1.827221	Q8N5G2	MACOI_HUMAN		9	1754	+		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)	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	1	1	hg19	c.1575G>A	CCDS30638.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-4.343800	1	0.170000	NM_018202			47	45		152	148	1		1	1		0	0	49	0		1	1	0	58	0	146	0	47	152
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591					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.R591W(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)		CGATGCAAAGCGGCAGCTCGA	0.567																																						ENST00000374343.4	0.980000	0.480000	9.200000e-01	6.200000e-01	0.770000	0.770504	0.770000	0.800000																										1	Substitution - Missense(1)	p.R591W(1)	large_intestine(1)	27						c.(1771-1773)Cgg>Tgg		transmembrane protein 57							78.0	64.0	69.0					1																	25818054		2203	4300	6503	SO:0001583	missense	55219	0	0					g.chr1:25818054C>T	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.1771C>T	chr1.hg19:g.25818054C>T	ENSP00000363463:p.Arg591Trp	1					TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W|TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W	p.R591W	NM_018202.4	NP_060672.2	0	1	1	1.827221	Q8N5G2	MACOI_HUMAN		10	1950	+		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)	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	1	1	hg19	c.1771C>T	CCDS30638.1	0	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	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	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	2	TMEM57	25690641	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-19.954840	1	0.170000	NM_018202			16	16		190	188	1		1	1		0	0	53	0		9.999398e-01	9.997622e-01	0	29	0	142	0	16	190
LDLRAP1	26119	broad.mit.edu	37	1	25880492	25880492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	56	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)			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)		TGGGCATGACGCTAGTGGAGC	0.637																																						ENST00000374338.4	1.000000	0.710000	9.800000e-01	8.200000e-01	0.920000	0.907698	0.920000	0.990000																										0				9						c.(166-168)acG>acA		low density lipoprotein receptor adaptor protein 1							76.0	64.0	68.0					1																	25880492		2203	4300	6503	SO:0001819	synonymous_variant	26119	1	121412	30				g.chr1:25880492G>A	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.168G>A	chr1.hg19:g.25880492G>A		1					LDLRAP1_ENST00000488127.1_3'UTR	p.T56T	NM_015627.2	NP_056442.2	0	1	1	1.827221	Q5SW96	ARH_HUMAN		2	287	+		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)	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	1	1	hg19	c.168G>A	CCDS30639.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_015627			32	32		268	262	1		1	1		0	0	61	0		1	9.769443e-01	0	9	0	44	0	32	268
LDLRAP1	26119	broad.mit.edu	37	1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	301					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)			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)		GCGGCACAGAGCAGGATGACC	0.647																																						ENST00000374338.4	0.970000	0.450000	8.900000e-01	5.800000e-01	0.730000	0.737312	0.730000	0.740000																										0				9						c.(901-903)gaG>gaT		low density lipoprotein receptor adaptor protein 1							41.0	36.0	38.0					1																	25893459		2203	4300	6503	SO:0001583	missense	26119	0	0					g.chr1:25893459G>T	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.903G>T	chr1.hg19:g.25893459G>T	ENSP00000363458:p.Glu301Asp	1					LDLRAP1_ENST00000488127.1_3'UTR	p.E301D	NM_015627.2	NP_056442.2	0	1	1	1.827221	Q5SW96	ARH_HUMAN		9	1022	+		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)	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	1	1	hg19	c.903G>T	CCDS30639.1	0	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591921	0.28357	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.54	-1.66	0.08265	5.54	-1.66	0.08265	.	0.494512	0.22727	N	0.056372	T	0.27559	0.0677	L	0.27053	0.805	0.26597	N	0.973083	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.25106	T	0.35	-20.2171	1.3273	0.02128	0.2906:0.2337:0.3498:0.126	.	301;301	B3KR97;Q5SW96	.;ARH_HUMAN	D	301	ENSP00000363458:E301D	ENSP00000363458:E301D	E	+	3	2	2	LDLRAP1	25766046	25766046	0.200000	0.23398	0.971000	0.41717	0.669000	0.39330	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-19.836770	1	0.170000	NM_015627			16	16		207	204	1		1	1		0	0	43	0		9.999366e-01	9.729805e-01	0	11	0	69	0	16	207
MAN1C1	57134	broad.mit.edu	37	1	25944734	25944734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25944734G>A	ENST00000374332.4	+	1	776	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	149					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)			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)		AACGCATTCCGGAGCCGTCTC	0.682																																						ENST00000374332.4	0.960000	0.220000	8.400000e-01	3.900000e-01	0.610000	0.616533	0.610000	0.600000																										0				25						c.(445-447)cGg>cAg		mannosidase, alpha, class 1C, member 1							11.0	10.0	10.0					1																	25944734		1825	3746	5571	SO:0001583	missense	57134	0	0					g.chr1:25944734G>A	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.446G>A	chr1.hg19:g.25944734G>A	ENSP00000363452:p.Arg149Gln	1					MAN1C1_ENST00000263979.3_5'UTR	p.R149Q	NM_020379.2	NP_065112.1	0	1	1	1.827221	Q9NR34	MA1C1_HUMAN		1	776	+		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)	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	0	1	hg19	c.446G>A	CCDS265.1	0	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548846	0.45383	.	.	ENSG00000117643	ENST00000374332	D	0.82803	-1.65	4.67	1.77	0.24775	4.67	1.77	0.24775	.	0.412918	0.18006	N	0.154739	T	0.63034	0.2477	N	0.12182	0.205	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.43798	-0.9369	10	0.13853	T	0.58	.	6.7426	0.23445	0.2976:0.0:0.7024:0.0	.	149	Q9NR34	MA1C1_HUMAN	Q	149	ENSP00000363452:R149Q	ENSP00000363452:R149Q	R	+	2	0	0	MAN1C1	25817321	25817321	0.967000	0.33354	0.979000	0.43373	0.980000	0.70556	0.812000	0.27211	0.194000	0.20326	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-8.414053	1	0.170000	NM_020379			4	4		60	58	0		1	0		0	0	8	0		8.849549e-01	3.382728e-01	0	0	0	16	0	4	60
PAQR7	164091	broad.mit.edu	37	1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	325					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983597	0.980000	0.990000																										0				9						c.(973-975)aGc>aAc		progestin and adipoQ receptor family member VII							81.0	82.0	82.0					1																	26189357		2203	4300	6503	SO:0001583	missense	164091	0	0					g.chr1:26189357C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.974G>A	chr1.hg19:g.26189357C>T	ENSP00000363414:p.Ser325Asn	1					RP1-125I3.2_ENST00000455431.1_RNA	p.S325N	NM_178422.5	NP_848509.1	0	1	1	1.827221	Q86WK9	MPRA_HUMAN		2	1640	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	1	1	hg19	c.974G>A	CCDS267.1	1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155044	0.38021	.	.	ENSG00000182749	ENST00000374296	T	0.22743	1.94	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.057108	0.64402	D	0.000001	T	0.15003	0.0362	N	0.22421	0.69	0.45378	D	0.998368	P	0.44521	0.837	B	0.38106	0.265	T	0.04400	-1.0954	10	0.33141	T	0.24	-17.3312	15.8292	0.78739	0.0:1.0:0.0:0.0	.	325	Q86WK9	MPRA_HUMAN	N	325	ENSP00000363414:S325N	ENSP00000363414:S325N	S	-	2	0	0	PAQR7	26061944	26061944	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.976000	0.76135	2.479000	0.83701	0.563000	0.77884	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	1	0	0		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_178422			79	78		318	314	0		1	1		0	0	97	0		1	9.999433e-01	0	12	0	47	0	79	318
STMN1	3925	broad.mit.edu	37	1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000465604.1_5'UTR|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	10	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)			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)		TTCTCCAGTTCTTTCACCTGG	0.393																																						ENST00000399728.1	1.000000	0.640000	9.600000e-01	7.500000e-01	0.870000	0.865651	0.870000	0.970000																										0				6						c.(28-30)Gaa>Taa		stathmin 1							40.0	43.0	42.0					1																	26230290		2202	4300	6502	SO:0001587	stop_gained	3925	0	0					g.chr1:26230290C>A	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.28G>T	chr1.hg19:g.26230290C>A	ENSP00000382633:p.Glu10*	1					STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR	p.E10*	NM_203401.1	NP_981946.1	0	1	1	1.827221	P16949	STMN1_HUMAN		3	391	-		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)	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Nonsense_Mutation	SNP	ENST00000399728.1	0	1	hg19	c.28G>T	CCDS269.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.112063	0.99069	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.104283	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000350531:E10X	E	-	1	0	0	STMN1	26102877	26102877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.717000	0.92951	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_005563			28	28		275	269	0		1	1		0	0	48	0		1	9.999936e-01	0	15	0	173	0	28	275
PAFAH2	5051	broad.mit.edu	37	1	26301000	26301000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	300					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)			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)		ACTGTTCATGCTGGGCACATA	0.468																																						ENST00000374282.3	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.934087	0.940000	0.990000																										0				9						c.(898-900)caG>caA		platelet-activating factor acetylhydrolase 2, 40kDa							116.0	106.0	110.0					1																	26301000		2203	4300	6503	SO:0001819	synonymous_variant	5051	0	0					g.chr1:26301000C>T	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.900G>A	chr1.hg19:g.26301000C>T		1					PAFAH2_ENST00000374284.1_Silent_p.Q300Q	p.Q300Q	NM_000437.3	NP_000428.2	0	1	1	1.827221	Q99487	PAFA2_HUMAN		9	1079	-		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)	D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	1	1	hg19	c.900G>A	CCDS270.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_000437			29	27		181	179	1		1	0		0	0	43	0		1	9.897519e-01	0	0	0	48	0	29	181
PAFAH2	5051	broad.mit.edu	37	1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	275					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)			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)		AACACAGGTCCTCGGGCCTTG	0.468																																						ENST00000374282.3	0.990000	0.510000	9.300000e-01	6.400000e-01	0.790000	0.788676	0.790000	0.830000																										0				9						c.(823-825)Gga>Tga		platelet-activating factor acetylhydrolase 2, 40kDa							97.0	90.0	93.0					1																	26301077		2203	4300	6503	SO:0001587	stop_gained	5051	0	0					g.chr1:26301077C>A	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.823G>T	chr1.hg19:g.26301077C>A	ENSP00000363400:p.Gly275*	1					PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	p.G275*	NM_000437.3	NP_000428.2	0	1	1	1.827221	Q99487	PAFA2_HUMAN		9	1002	-		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)	D3DPK1|O15458|Q5SY02	Nonsense_Mutation	SNP	ENST00000374282.3	0	1	hg19	c.823G>T	CCDS270.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.498422	0.97616	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.212193	0.34652	N	0.003796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.367	8.43	0.32753	0.0:0.7621:0.1569:0.081	.	.	.	.	X	275	.	ENSP00000363400:G275X	G	-	1	0	0	PAFAH2	26173664	26173664	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	1.340000	0.33896	2.715000	0.92844	0.650000	0.86243	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-19.999760	1	0.170000	NM_000437			18	18		207	205	0		1	0		0	0	40	0		9.999841e-01	9.619396e-01	0	1	0	64	0	18	207
PAFAH2	5051	broad.mit.edu	37	1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	188					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)			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)		TCGCTTACCCGCTGATGCACC	0.527																																						ENST00000374282.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.977746	0.980000	0.990000																										0				9						c.(562-564)Cgg>Tgg		platelet-activating factor acetylhydrolase 2, 40kDa		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	74.0	79.0		562	0.8	1.0	1	dbSNP_134	79	0,8600		0,0,4300	no	missense	PAFAH2	NM_000437.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/393	26308959	1,13005	2203	4300	6503	SO:0001583	missense	5051	2	121412	33				g.chr1:26308959G>A	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.562C>T	chr1.hg19:g.26308959G>A	ENSP00000363400:p.Arg188Trp	1					PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	p.R188W	NM_000437.3	NP_000428.2	0	1	1	1.827221	Q99487	PAFA2_HUMAN		7	741	-		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)	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	1	1	hg19	c.562C>T	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352977	0.61293	2.27E-4	0.0	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.69561	-0.41;-0.41	5.63	0.757	0.18427	5.63	0.757	0.18427	.	0.000000	0.64402	D	0.000012	T	0.81054	0.4743	M	0.82056	2.57	0.42507	D	0.99295	D	0.89917	1.0	D	0.91635	0.999	D	0.84883	0.0832	10	0.66056	D	0.02	-22.0736	15.874	0.79148	0.0:0.0:0.7012:0.2988	.	188	Q99487	PAFA2_HUMAN	W	188	ENSP00000363400:R188W;ENSP00000363402:R188W	ENSP00000363400:R188W	R	-	1	2	2	PAFAH2	26181546	26181546	0.998000	0.40836	0.991000	0.47740	0.484000	0.33280	0.355000	0.20163	0.565000	0.29255	0.563000	0.77884	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_000437			50	50		140	138	1		1	1		0	0	44	0		1	9.999958e-01	0	33	0	24	0	50	140
EXTL1	2134	broad.mit.edu	37	1	26349754	26349755	+	Missense_Mutation	DNP	CG	CG	TA	rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754_26349755CG>TA	ENST00000374280.3	+	1	1484_1485	c.617_618CG>TA	c.(616-618)cCG>cTA	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGTG	0.683																																						ENST00000374280.3	1.000000	0.610000|0.840000	9.700000e-01|1	7.500000e-01|9.100000e-01	0.880000|0.960000	0.868387|0.959521	0.880000|0.960000	0.990000																										0				23						c.(616-618)cCg>cTg|c.(616-618)ccG>ccA		exostosin-like glycosyltransferase 1																																				SO:0001583	missense	2134	115|1	121264|121258	48|26				g.chr1:26349754C>T|g.chr1:26349755G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	Exception_encountered	chr1.hg19:g.26349754_26349755delinsTA	ENSP00000363398:p.Pro206Leu	1					EXTL1_ENST00000484339.1_3'UTR	p.P206L|p.P206P	NM_004455.2	NP_004446.2	0	1	1	1.827221	Q92935	EXTL1_HUMAN		1	1484|1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Q6GSC1	Missense_Mutation|Silent	SNP	ENST00000374280.3	1	1	hg19	c.617C>T|c.618G>A	CCDS271.1	1																									5.38|	5.38|	0.77491|																																												0|			26222341|														9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.683	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-5.166284|-20.000000	1	0.170000	NM_004455			16|31	16|31		127|109	126|108	1		1	0		0	0	32	0		9.999479e-01|1	0	0	0	0	1	0	16	109
EXTL1	2134	broad.mit.edu	37	1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	672					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711																																						ENST00000374280.3	1.000000	0.850000	1	9.200000e-01	0.960000	0.961727	0.960000	0.990000																										0				23						c.(2014-2016)aGc>aTc		exostosin-like glycosyltransferase 1							33.0	32.0	32.0					1																	26361822		2203	4300	6503	SO:0001583	missense	2134	0	0					g.chr1:26361822G>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.2015G>T	chr1.hg19:g.26361822G>T	ENSP00000363398:p.Ser672Ile	1						p.S672I	NM_004455.2	NP_004446.2	0	1	1	1.827221	Q92935	EXTL1_HUMAN		11	2882	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	1	1	hg19	c.2015G>T	CCDS271.1	1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871983	0.72180	.	.	ENSG00000158008	ENST00000374280	D	0.95238	-3.65	4.67	2.5	0.30297	4.67	2.5	0.30297	.	0.777423	0.12720	N	0.444807	D	0.90205	0.6938	L	0.54323	1.7	0.34908	D	0.74717	B	0.34103	0.437	B	0.28916	0.096	D	0.89961	0.4086	10	0.66056	D	0.02	-1.1405	5.0811	0.14656	0.456:0.0:0.544:0.0	.	672	Q92935	EXTL1_HUMAN	I	672	ENSP00000363398:S672I	ENSP00000363398:S672I	S	+	2	0	0	EXTL1	26234409	26234409	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.986000	0.49370	1.074000	0.40909	0.561000	0.74099	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.711	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_004455			39	39		180	178	1		1			0	0	43	0		1	0	0	0	0	0	0	39	180
CNKSR1	10256	broad.mit.edu	37	1	26510587	26510587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26510587C>T	ENST00000374253.5	+	10	941	c.902C>T	c.(901-903)cCg>cTg	p.P301L	CNKSR1_ENST00000531191.1_Missense_Mutation_p.P36L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	301	Pro-rich.				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)			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)		CTGGACTCCCCGCACCAGAGG	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000374253.5	0.390000	0.100000	3.100000e-01	1.500000e-01	0.220000	0.237622	0.220000	0.220000																										0				28						c.(901-903)cCg>cTg		connector enhancer of kinase suppressor of Ras 1							79.0	81.0	80.0					1																	26510587		2203	4300	6503	SO:0001583	missense	10256	12	121412	44				g.chr1:26510587C>T	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.902C>T	chr1.hg19:g.26510587C>T	ENSP00000363371:p.Pro301Leu	1					CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L|CNKSR1_ENST00000531191.1_Missense_Mutation_p.P36L	p.P301L	NM_006314.2	NP_006305.2	0	1	1	1.827221	Q969H4	CNKR1_HUMAN		10	941	+		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)	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	0	1	hg19	c.902C>T		0	.	.	.	.	.	.	.	.	.	.	c	10.75	1.437135	0.25900	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14766	2.51;2.54;2.48	4.39	3.47	0.39725	4.39	3.47	0.39725	.	1.563930	0.03774	N	0.260213	T	0.12518	0.0304	L	0.29908	0.895	0.19945	N	0.999943	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.34079	-0.9843	10	0.15499	T	0.54	-1.527	10.9468	0.47306	0.0:0.9031:0.0:0.0969	.	301;294	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	294;301;36	ENSP00000354609:P294L;ENSP00000363371:P301L;ENSP00000431817:P36L	ENSP00000354609:P294L	P	+	2	0	0	CNKSR1	26383174	26383174	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	1.271000	0.33098	1.150000	0.42419	-0.215000	0.12644	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	0	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-2.626180	1	0.170000	NM_006314			9	9		432	419	0		1	0		0	0	102	0		9.934927e-01	4.696546e-01	0	1	0	71	0	9	432
CNKSR1	10256	broad.mit.edu	37	1	26511616	26511616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26511616G>A	ENST00000374253.5	+	14	1307	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.R158H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	423	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)		ATGGGCCCGCGCTGGCGCCGC	0.667																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000374253.5	1.000000	0.480000	9.600000e-01	6.700000e-01	0.850000	0.825463	0.850000	0.990000																										0				28						c.(1267-1269)cGc>cAc		connector enhancer of kinase suppressor of Ras 1							7.0	9.0	8.0					1																	26511616		2153	4192	6345	SO:0001583	missense	10256	3	117840	35				g.chr1:26511616G>A	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.1268G>A	chr1.hg19:g.26511616G>A	ENSP00000363371:p.Arg423His	1					CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H|CNKSR1_ENST00000531191.1_Missense_Mutation_p.R158H	p.R423H	NM_006314.2	NP_006305.2	0	1	1	1.827221	Q969H4	CNKR1_HUMAN		14	1307	+		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)	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	0	1	hg19	c.1268G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472137	0.63737	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	3.68	0.42216	5.55	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.119683	0.56097	N	0.000035	T	0.75332	0.3835	L	0.60455	1.87	0.40934	D	0.984419	D;D	0.57899	0.96;0.981	P;P	0.54401	0.727;0.751	T	0.76454	-0.2953	10	0.66056	D	0.02	-20.5718	5.6613	0.17670	0.3675:0.0:0.6325:0.0	.	423;416	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	416;423;158	ENSP00000354609:R416H;ENSP00000363371:R423H;ENSP00000431817:R158H	ENSP00000354609:R416H	R	+	2	0	0	CNKSR1	26384203	26384203	1.000000	0.71417	0.994000	0.49952	0.120000	0.20174	6.685000	0.74543	1.344000	0.45657	-0.145000	0.13849	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-4.039104	1	0.170000	NM_006314			7	7		42	41	0		1	1		0	0	12	0		9.820320e-01	7.963665e-01	0	7	0	13	0	7	42
CATSPER4	378807	broad.mit.edu	37	1	26524884	26524884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					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)			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)		CCCAGGACGGCTGGGTGGACA	0.562																																						ENST00000456354.2	0.530000	0.240000	4.600000e-01	3.000000e-01	0.370000	0.386150	0.370000	0.370000																										0				27						c.(784-786)ggC>ggA		cation channel, sperm associated 4							121.0	116.0	118.0					1																	26524884		2203	4300	6503	SO:0001819	synonymous_variant	378807	0	0					g.chr1:26524884C>A	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.786C>A	chr1.hg19:g.26524884C>A		1						p.G262G	NM_198137.1	NP_937770.1	0	1	1	1.827221	Q7RTX7	CTSR4_HUMAN		6	853	+		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)	A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	1	1	hg19	c.786C>A	CCDS30645.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	0	0	1		2	2	2	0		0	0	118		118	114	1	2.060000	-19.912660	1	0.170000	NM_198137			24	24		661	649	0		1			0	0	118	0		9.999996e-01	0	0	0	0	0	0	24	661
SH3BGRL3	83442	broad.mit.edu	37	1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3	28	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of actin filament depolymerization (GO:0030834)|regulation of blood vessel endothelial cell migration (GO:0043535)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)|Rho GTPase activator activity (GO:0005100)|semaphorin receptor binding (GO:0030215)						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|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;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597																																						ENST00000270792.5	1.000000	0.860000	1	9.300000e-01	0.970000	0.966688	0.970000	0.990000																										0										c.(82-84)Ctg>Atg		SH3 domain binding glutamate-rich protein like 3							77.0	69.0	72.0					1																	26607289		2203	4300	6503	SO:0001583	missense	83442	0	0					g.chr1:26607289C>A	AJ297915	CCDS278.1	1p36.11	2014-02-19	2014-02-19		ENSG00000142669	ENSG00000142669			15568	protein-coding gene	gene with protein product		615679	"""SH3 domain binding glutamic acid-rich protein like 3"""				Standard	NM_031286		Approved		uc001blu.3	Q9H299	OTTHUMG00000003381	ENST00000270792.5:c.82C>A	chr1.hg19:g.26607289C>A	ENSP00000270792:p.Leu28Met	1					SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	p.L28M	NM_031286.3	NP_112576.1	0	1	1	1.827221	Q9H299	SH3L3_HUMAN		2	1062	+		all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q5T122	Missense_Mutation	SNP	ENST00000270792.5	1	1	hg19	c.82C>A	CCDS278.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.253796	0.95336	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	D;D	0.90385	-2.66;-2.66	6.08	6.08	0.98989	6.08	6.08	0.98989	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	.	.	.	0.48087	D	0.999588	D	0.71674	0.998	D	0.73380	0.98	D	0.95096	0.8226	9	0.62326	D	0.03	-9.1582	20.6634	0.99662	0.0:1.0:0.0:0.0	.	28	Q9H299	SH3L3_HUMAN	M	28;161;28	ENSP00000270792:L28M;ENSP00000363358:L28M	ENSP00000270792:L28M	L	+	1	2	2	SH3BGRL3	26479876	26479876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.019000	0.70818	2.894000	0.99253	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009498.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				47	44		229	225	1		1	1		0	0	67	0		1	1	0	424	0	1292	0	47	229
CD52	1043	broad.mit.edu	37	1	26646758	26646758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26646758G>A	ENST00000374213.2	+	2	212	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	UBXN11_ENST00000374217.2_5'Flank|UBXN11_ENST00000374222.1_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	51					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|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;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	TTTCTTCGTGGCCAATGCCAT	0.522																																						ENST00000374213.2	0.510000	0.150000	4.100000e-01	2.200000e-01	0.300000	0.322584	0.300000	0.300000																										0				1						c.(151-153)Gcc>Acc		CD52 molecule	Alemtuzumab(DB00087)						193.0	170.0	178.0					1																	26646758		2203	4300	6503	SO:0001583	missense	1043	0	0					g.chr1:26646758G>A		CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"""CD molecules"""	1804	protein-coding gene	gene with protein product		114280	"""CD52 antigen (CAMPATH-1 antigen)"""	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.151G>A	chr1.hg19:g.26646758G>A	ENSP00000363330:p.Ala51Thr	1					UBXN11_ENST00000374222.1_5'Flank|UBXN11_ENST00000374217.2_5'Flank	p.A51T	NM_001803.2	NP_001794.2	0	1	1	1.827221	P31358	CD52_HUMAN		2	212	+		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	0	1	hg19	c.151G>A	CCDS30647.1	0	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224247	0.39300	.	.	ENSG00000169442	ENST00000374213	T	0.48836	0.8	4.33	-5.08	0.02929	4.33	-5.08	0.02929	.	1.803160	0.03567	N	0.227998	T	0.31606	0.0802	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.27226	-1.0080	9	0.14656	T	0.56	.	14.6165	0.68552	0.2534:0.0:0.7466:0.0	.	51	P31358	CD52_HUMAN	T	51	ENSP00000363330:A51T	ENSP00000363330:A51T	A	+	1	0	0	CD52	26519345	26519345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.612000	0.05616	-1.066000	0.03164	-0.302000	0.09304	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.964296	1	0.170000	NM_001803			10	10		345	334	0		1	1		0	0	74	0		9.964618e-01	9.960213e-01	0	2	0	333	0	10	345
ZNF683	257101	broad.mit.edu	37	1	26694242	26694242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26694242C>T	ENST00000436292.1	-	3	281	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	54					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACAGGATGGGCCATGAGCATC	0.652																																						ENST00000436292.1	0.980000	0.330000	9.000000e-01	5.100000e-01	0.720000	0.711169	0.720000	0.780000																										0				15						c.(160-162)gGc>gAc		zinc finger protein 683							28.0	25.0	26.0					1																	26694242		2203	4298	6501	SO:0001583	missense	257101	0	0					g.chr1:26694242C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.161G>A	chr1.hg19:g.26694242C>T	ENSP00000388792:p.Gly54Asp	1					ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D	p.G54D			0	1	1	1.827221	Q8IZ20	ZN683_HUMAN		3	281	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	0	1	hg19	c.161G>A		0	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863087	0.51482	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.20738	3.28;3.28;3.22;3.22;2.39;2.39;2.05;2.06	4.27	2.24	0.28232	4.27	2.24	0.28232	.	0.199248	0.25112	N	0.033056	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	P;B	0.36587	0.559;0.423	B;B	0.34931	0.192;0.094	T	0.18398	-1.0338	10	0.21540	T	0.41	-6.8636	5.184	0.15174	0.0:0.667:0.2116:0.1214	.	54;54	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	D	54;54;54;54;62;54;62;54	ENSP00000384782:G54D;ENSP00000388792:G54D;ENSP00000363320:G54D;ENSP00000344095:G54D;ENSP00000411289:G62D;ENSP00000411290:G54D;ENSP00000391584:G62D;ENSP00000401961:G54D	ENSP00000344095:G54D	G	-	2	0	0	ZNF683	26566829	26566829	0.001000	0.12720	0.047000	0.18901	0.678000	0.39670	0.021000	0.13489	0.993000	0.38866	0.462000	0.41574	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	0	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-11.087340	1	0.170000	NM_173574			6	6		69	68	0		1	0		0	0	15	0		9.656407e-01	1.662971e-01	0	0	0	8	0	6	69
DHDDS	79947	broad.mit.edu	37	1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000236342.7	+	4	322	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000360009.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	77					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522																																						ENST00000236342.7	1.000000	0.950000	1	9.700000e-01	0.990000	0.991816	0.990000	0.990000																										0				15						c.(229-231)Gca>Aca		dehydrodolichyl diphosphate synthase							169.0	162.0	164.0					1																	26769270		2203	4300	6503	SO:0001583	missense	79947	0	0					g.chr1:26769270G>A	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.229G>A	chr1.hg19:g.26769270G>A	ENSP00000236342:p.Ala77Thr	1					DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000360009.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T	p.A77T			0	1	1	1.827221	Q86SQ9	DHDDS_HUMAN		4	322	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	1	1	hg19	c.229G>A	CCDS282.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.511033	0.96386	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.26;-1.39	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.999;0.987;0.967	D	0.90213	0.4266	10	0.45353	T	0.12	-26.5302	19.3088	0.94175	0.0:0.0:1.0:0.0	.	77;77;77;77	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	T	45;77;77;77;77;77;77;77;77;77;77;77;77	ENSP00000399177:A77T;ENSP00000434984:A77T;ENSP00000236342:A77T;ENSP00000434219:A77T;ENSP00000363300:A77T;ENSP00000353104:A77T;ENSP00000436119:A77T;ENSP00000436764:A77T;ENSP00000434185:A77T;ENSP00000433976:A77T;ENSP00000397584:A77T	ENSP00000236342:A77T	A	+	1	0	0	DHDDS	26641857	26641857	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.762000	0.98944	2.809000	0.96659	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	1	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	NM_024887			132	133		477	467	1		1	1		0	0	156	0		1	1	0	32	0	85	0	132	477
ARID1A	8289	broad.mit.edu	37	1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000324856.7	+	4	2204	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7	1.000000	0.870000	1	9.300000e-01	0.970000	0.968116	0.970000	0.990000				Rec	yes			Rec	yes		1	1p35.3	1p35.3	8289	Mis, N, F, S, D	AT rich interactive domain 1A (SWI-like)				E	E			clear cell ovarian carcinoma, RCC	ARID1A/MAST2_ENST00000361297(2)	0				411						c.(1831-1833)caG>caT		AT rich interactive domain 1A (SWI-like)							138.0	121.0	127.0					1																	27059196		2203	4300	6503	SO:0001583	missense	8289	0	0					g.chr1:27059196G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1833G>T	chr1.hg19:g.27059196G>T	ENSP00000320485:p.Gln611His	1					ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H	p.Q611H	NM_006015.4	NP_006006.3	0	1	1	1.827221	O14497	ARI1A_HUMAN		4	2204	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	1	1	hg19	c.1833G>T	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332250	0.41297	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.38;4.18;4.22	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.57536	1.79	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.944	P;P;P	0.52217	0.497;0.693;0.497	T	0.04946	-1.0916	10	0.49607	T	0.09	-6.0683	9.9444	0.41600	0.151:0.0:0.849:0.0	.	611;611;265	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	611;611;228	ENSP00000320485:Q611H;ENSP00000387636:Q611H;ENSP00000363267:Q228H	ENSP00000320485:Q611H	Q	+	3	2	2	ARID1A	26931783	26931783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.698000	0.47068	2.592000	0.87571	0.491000	0.48974	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.152833	1	0.170000	NM_139135			54	52		290	288	1		1	1	1	0	0	119	346		1	9.999804e-01	1	10	35	78	340	54	290
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T	rs387906845		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7	1.000000	0.900000	1	9.500000e-01	0.980000	0.978890	0.980000	0.990000				Rec	yes			Rec	yes		1	1p35.3	1p35.3	8289	Mis, N, F, S, D	AT rich interactive domain 1A (SWI-like)				E	E			clear cell ovarian carcinoma, RCC	ARID1A/MAST2_ENST00000361297(2)	0				411						c.(2758-2760)Caa>Taa		AT rich interactive domain 1A (SWI-like)							85.0	84.0	85.0					1																	27092737		2203	4300	6503	SO:0001587	stop_gained	8289	0	0					g.chr1:27092737C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2758C>T	chr1.hg19:g.27092737C>T	ENSP00000320485:p.Gln920*	1					RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*	p.Q920*	NM_006015.4	NP_006006.3	0	1	1	1.827221	O14497	ARI1A_HUMAN		9	3129	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	0	1	hg19	c.2758C>T	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.423699	0.99166	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;537	.	ENSP00000320485:Q920X	Q	+	1	0	0	ARID1A	26965324	26965324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_139135			58	57		203	200	1		1	1	1	0	0	84	959		1	9.998745e-01	1	6	198	44	740	58	203
ARID1A	8289	broad.mit.edu	37	1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000324856.7	+	18	4672	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1434					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7	1.000000	0.940000	1	9.700000e-01	0.980000	0.989834	0.980000	0.990000				Rec	yes			Rec	yes		1	1p35.3	1p35.3	8289	Mis, N, F, S, D	AT rich interactive domain 1A (SWI-like)				E	E			clear cell ovarian carcinoma, RCC	ARID1A/MAST2_ENST00000361297(2)	0				411						c.(4300-4302)gCc>gTc		AT rich interactive domain 1A (SWI-like)							67.0	68.0	68.0					1																	27101019		2203	4300	6503	SO:0001583	missense	8289	0	0					g.chr1:27101019C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4301C>T	chr1.hg19:g.27101019C>T	ENSP00000320485:p.Ala1434Val	1					ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	p.A1434V	NM_006015.4	NP_006006.3	0	1	1	1.827221	O14497	ARI1A_HUMAN		18	4672	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	1	1	hg19	c.4301C>T	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372725	0.61624	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02863	4.29;4.13	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.194762	0.38605	N	0.001636	T	0.02455	0.0075	N	0.14661	0.345	0.80722	D	1	P;P;B	0.48764	0.822;0.915;0.278	B;B;B	0.35039	0.194;0.164;0.057	T	0.61352	-0.7080	10	0.56958	D	0.05	-4.606	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1051;1434;1087	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	V	1434;1051	ENSP00000320485:A1434V;ENSP00000363267:A1051V	ENSP00000320485:A1434V	A	+	2	0	0	ARID1A	26973606	26973606	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.890000	0.99128	0.650000	0.86243	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-20.000000	1	0.170000	NM_139135			109	107		382	372	1		1	1	1	0	0	108	243		1	9.998663e-01	1	4	59	44	187	109	382
ARID1A	8289	broad.mit.edu	37	1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T	rs551963483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000324856.7	+	20	5769	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1800					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7	1.000000	0.720000	9.800000e-01	8.200000e-01	0.920000	0.909373	0.920000	0.990000				Rec	yes			Rec	yes		1	1p35.3	1p35.3	8289	Mis, N, F, S, D	AT rich interactive domain 1A (SWI-like)				E	E			clear cell ovarian carcinoma, RCC	ARID1A/MAST2_ENST00000361297(2)	0				411						c.(5398-5400)Aat>Tat		AT rich interactive domain 1A (SWI-like)							69.0	61.0	64.0					1																	27105787		2203	4300	6503	SO:0001583	missense	8289	2	121412	37				g.chr1:27105787A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5398A>T	chr1.hg19:g.27105787A>T	ENSP00000320485:p.Asn1800Tyr	1					ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y|ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y	p.N1800Y	NM_006015.4	NP_006006.3	0	1	1	1.827221	O14497	ARI1A_HUMAN		20	5769	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	1	1	hg19	c.5398A>T	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.46|14.46	2.542364|2.542364	0.45280|0.45280	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T|T;T;T;T	0.03607|0.10099	3.87|4.47;4.29;4.29;2.91	5.06|5.06	5.06|5.06	0.68205|0.68205	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.896432	.|0.10149	.|N	.|0.709919	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.34521|0.34521	1.04|1.04	0.38307|0.38307	D|D	0.943141|0.943141	.|B;B;B	.|0.31351	.|0.143;0.086;0.32	.|B;B;B	.|0.34931	.|0.048;0.045;0.192	T|T	0.19418|0.19418	-1.0306|-1.0306	7|10	0.87932|0.59425	D|D	0|0.04	-0.7307|-0.7307	6.2998|6.2998	0.21107|0.21107	0.7827:0.0:0.0757:0.1416|0.7827:0.0:0.0757:0.1416	.|.	.|1417;1800;1583	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|Y	696|1800;1583;1417;128	ENSP00000390317:E696V|ENSP00000320485:N1800Y;ENSP00000387636:N1583Y;ENSP00000363267:N1417Y;ENSP00000442437:N128Y	ENSP00000390317:E696V|ENSP00000320485:N1800Y	E|N	+|+	2|1	0|0	0|0	ARID1A|ARID1A	26978374|26978374	26978374|26978374	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	3.771000|3.771000	0.55318|0.55318	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAA|AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_139135			34	33		288	286	0		1	1	1	0	0	80	536		1	9.974791e-01	1	6	63	74	427	34	288
FAM46B	115572	broad.mit.edu	37	1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	146										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)		GGCCAGCACCACTGCCTTGGT	0.617																																						ENST00000289166.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.990091	0.980000	0.990000																										0				10						c.(436-438)gTg>gCg		family with sequence similarity 46, member B							109.0	98.0	102.0					1																	27333276		2203	4300	6503	SO:0001583	missense	115572	0	0					g.chr1:27333276A>G	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.437T>C	chr1.hg19:g.27333276A>G	ENSP00000289166:p.Val146Ala	1						p.V146A	NM_052943.3	NP_443175.2	0	1	1	1.827221	Q96A09	FA46B_HUMAN		2	602	-		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)		Missense_Mutation	SNP	ENST00000289166.5	1	1	hg19	c.437T>C	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	A	8.981	0.975371	0.18736	.	.	ENSG00000158246	ENST00000289166	T	0.24350	1.86	5.33	4.19	0.49359	5.33	4.19	0.49359	Domain of unknown function DUF1693 (1);	0.114322	0.64402	D	0.000013	T	0.12220	0.0297	N	0.12746	0.255	0.50171	D	0.999854	B	0.14438	0.01	B	0.25405	0.06	T	0.09952	-1.0651	10	0.07175	T	0.84	-34.6345	8.621	0.33861	0.847:0.0:0.153:0.0	.	146	Q96A09	FA46B_HUMAN	A	146	ENSP00000289166:V146A	ENSP00000289166:V146A	V	-	2	0	0	FAM46B	27205863	27205863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.232000	0.73038	0.533000	0.62120	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	0	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_052943			114	113		417	413	1		1	1		0	0	100	0		1	4.654430e-01	0	4	0	3	0	114	417
SLC9A1	6548	broad.mit.edu	37	1	27427125	27427125	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	707					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)			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)	TCGGCTCATAGGCCAGTGGGT	0.642																																						ENST00000263980.3	1.000000	0.870000	1	9.300000e-01	0.970000	0.968040	0.970000	0.990000																										0				27						c.(2119-2121)gcC>gcA		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						110.0	110.0	110.0					1																	27427125		2203	4300	6503	SO:0001819	synonymous_variant	6548	0	0					g.chr1:27427125G>T	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.2121C>A	chr1.hg19:g.27427125G>T		1					SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.A368A	p.A707A	NM_003047.4	NP_003038.2	0	1	1	1.827221	P19634	SL9A1_HUMAN		12	2696	-			B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	1	1	hg19	c.2121C>A	CCDS295.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	1	0	1		2	2	2	0		0	0	166		166	164	1	2.060000	-20.000000	1	0.170000	NM_003047			106	104		831	814	1		1	1		0	0	166	0		1	9.999997e-01	0	20	0	141	0	106	831
SLC9A1	6548	broad.mit.edu	37	1	27429187	27429187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	541					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)			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)	GGTGGTGACCGTAGTGGCCAC	0.647											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263980.3	0.990000	0.510000	9.500000e-01	6.700000e-01	0.820000	0.812828	0.820000	0.940000																										0				27						c.(1621-1623)taC>taT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						65.0	61.0	62.0					1																	27429187		2202	4300	6502	SO:0001819	synonymous_variant	6548	2	121404	24				g.chr1:27429187G>A	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.1623C>T	chr1.hg19:g.27429187G>A		1		OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	794	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	p.Y541Y	NM_003047.4	NP_003038.2	0	1	1	1.827221	P19634	SL9A1_HUMAN		7	2198	-			B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	1	1	hg19	c.1623C>T	CCDS295.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-3.319015	1	0.170000	NM_003047			13	13		127	125	1		1	1		0	0	44	0		9.995798e-01	9.999714e-01	0	22	0	177	0	13	127
WDTC1	23038	broad.mit.edu	37	1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000319394.3	+	16	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	634					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)			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)		CAACCAGCGGCGCATGAATGC	0.612																																						ENST00000319394.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.986034	0.980000	0.990000																										0				21						c.(1900-1902)Cgc>Tgc		WD and tetratricopeptide repeats 1							92.0	81.0	85.0					1																	27632740		2203	4300	6503	SO:0001583	missense	23038	0	0					g.chr1:27632740C>T	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.1900C>T	chr1.hg19:g.27632740C>T	ENSP00000317971:p.Arg634Cys	1					WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	p.R634C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	0	1	1	1.827221	Q8N5D0	WDTC1_HUMAN		16	2435	+		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)	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	1	1	hg19	c.1900C>T		1	.	.	.	.	.	.	.	.	.	.	C	32	5.145582	0.94603	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67698	-0.28;-0.27	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78846	-0.2043	10	0.72032	D	0.01	.	17.3843	0.87412	0.0:1.0:0.0:0.0	.	634;633	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	C	634;633	ENSP00000317971:R634C;ENSP00000355317:R633C	ENSP00000317971:R634C	R	+	1	0	0	WDTC1	27505327	27505327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.654000	0.90174	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.943558	1	0.170000	NM_015023			86	86		317	310	1		1	1		0	0	81	0		1	1	0	38	0	79	0	86	317
SYTL1	84958	broad.mit.edu	37	1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000543823.1	+	10	1508	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	349	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647																																						ENST00000543823.1	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.903958	0.910000	0.990000																										0				12						c.(1045-1047)aGc>aTc		synaptotagmin-like 1							63.0	57.0	59.0					1																	27677325		2203	4300	6503	SO:0001583	missense	84958	0	0					g.chr1:27677325G>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1046G>T	chr1.hg19:g.27677325G>T	ENSP00000440704:p.Ser349Ile	1					SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I	p.S349I			0	1	1	1.827221	Q8IYJ3	SYTL1_HUMAN		10	1508	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	1	1	hg19	c.1046G>T	CCDS53286.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499008|3.499008	0.64298|0.64298	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	4.49|4.49	3.49|3.49	0.39957|0.39957	4.49|4.49	3.49|3.49	0.39957|0.39957	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.153666	.|0.64402	.|D	.|0.000020	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.10645|0.10645	0.015|0.015	0.39697|0.39697	D|D	0.971122|0.971122	.|B;B	.|0.26512	.|0.151;0.041	.|B;B	.|0.42087	.|0.375;0.036	T|T	0.55509|0.55509	-0.8130|-0.8130	5|10	.|0.87932	.|D	.|0	-11.2352|-11.2352	4.4517|4.4517	0.11624|0.11624	0.2925:0.0:0.7075:0.0|0.2925:0.0:0.7075:0.0	.|.	.|349;337	.|Q8IYJ3;Q8IYJ3-2	.|SYTL1_HUMAN;.	S|I	197|337;349;102	.|ENSP00000316464:S337I;ENSP00000440704:S349I	.|ENSP00000316464:S337I	A|S	+|+	1|2	0|0	0|0	SYTL1|SYTL1	27549912|27549912	27549912|27549912	0.232000|0.232000	0.23762|0.23762	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.848000|0.848000	0.27710|0.27710	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GCC|AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.318796	1	0.170000	NM_032872			32	32		274	269	1		1	1		0	0	78	0		1	9.197629e-01	0	11	0	28	0	32	274
SYTL1	84958	broad.mit.edu	37	1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000543823.1	+	10	1624	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	388					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692																																						ENST00000543823.1	1.000000	0.680000	9.800000e-01	8.000000e-01	0.910000	0.897605	0.910000	0.990000																										0				12						c.(1162-1164)Cgg>Tgg		synaptotagmin-like 1							33.0	31.0	32.0					1																	27677441		2203	4300	6503	SO:0001583	missense	84958	0	0					g.chr1:27677441C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1162C>T	chr1.hg19:g.27677441C>T	ENSP00000440704:p.Arg388Trp	1					SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W	p.R388W			0	1	1	1.827221	Q8IYJ3	SYTL1_HUMAN		10	1624	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	1	1	hg19	c.1162C>T	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881040	0.72294	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08634	3.07;3.07	4.76	4.76	0.60689	4.76	4.76	0.60689	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00473	-1.1718	10	0.87932	D	0	-31.7094	10.4168	0.44327	0.3059:0.6941:0.0:0.0	.	388;376	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	W	376;388;141	ENSP00000316464:R376W;ENSP00000440704:R388W	ENSP00000316464:R376W	R	+	1	2	2	SYTL1	27550028	27550028	0.139000	0.22563	1.000000	0.80357	0.596000	0.36781	0.533000	0.23082	2.487000	0.83934	0.456000	0.33151	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.017805	1	0.170000	NM_032872			26	26		214	208	1		1	1		0	0	45	0		9.999999e-01	9.751875e-01	0	8	0	44	0	26	214
FCN3	8547	broad.mit.edu	37	1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	210	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587																																						ENST00000270879.4	1.000000	0.940000	1	9.700000e-01	0.980000	0.989281	0.980000	0.990000																										0				7						c.(628-630)Gca>Aca		ficolin (collagen/fibrinogen domain containing) 3							112.0	109.0	110.0					1																	27697117		2203	4300	6503	SO:0001583	missense	8547	0	0					g.chr1:27697117C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.628G>A	chr1.hg19:g.27697117C>T	ENSP00000270879:p.Ala210Thr	1					FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	p.A210T	NM_003665.2	NP_003656.2	0	1	1	1.827221	O75636	FCN3_HUMAN		7	633	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	1	1	hg19	c.628G>A	CCDS300.1	1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753229	0.15778	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76448	-1.02;-1.02	5.26	2.29	0.28610	5.26	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.227220	0.06133	N	0.671032	T	0.48259	0.1490	N	0.01438	-0.865	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.006	T	0.38802	-0.9644	10	0.21014	T	0.42	.	2.1015	0.03681	0.1596:0.5091:0.1551:0.1763	.	199;210	Q6UXM4;O75636	.;FCN3_HUMAN	T	210;199;88	ENSP00000270879:A210T;ENSP00000347077:A199T	ENSP00000270879:A210T	A	-	1	0	0	FCN3	27569704	27569704	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.305000	0.08188	0.295000	0.22570	0.558000	0.71614	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				108	107		402	398	1		1	0		0	0	136	0		1	9.006309e-01	0	0	0	17	0	108	402
GPR3	2827	broad.mit.edu	37	1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A	rs369420552		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	258					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607																																						ENST00000374024.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.983393	0.980000	0.990000																										0				8						c.(772-774)Gcc>Acc		G protein-coupled receptor 3							189.0	149.0	162.0					1																	27721074		2203	4300	6503	SO:0001583	missense	2827	3	121412	34				g.chr1:27721074G>A	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.772G>A	chr1.hg19:g.27721074G>A	ENSP00000363136:p.Ala258Thr	1						p.A258T	NM_005281.3	NP_005272.1	0	1	1	1.827221	P46089	GPR3_HUMAN		2	871	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	A8K570	Missense_Mutation	SNP	ENST00000374024.3	1	1	hg19	c.772G>A	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464925	0.43839	.	.	ENSG00000181773	ENST00000374024	T	0.37752	1.18	5.91	4.99	0.66335	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.213027	0.40728	N	0.001024	T	0.33789	0.0875	M	0.72894	2.215	0.37667	D	0.923006	B	0.30439	0.279	B	0.23150	0.044	T	0.33954	-0.9848	10	0.44086	T	0.13	.	8.9616	0.35851	0.0761:0.0:0.7367:0.1872	.	258	P46089	GPR3_HUMAN	T	258	ENSP00000363136:A258T	ENSP00000363136:A258T	A	+	1	0	0	GPR3	27593661	27593661	0.993000	0.37304	0.980000	0.43619	0.990000	0.78478	2.228000	0.42981	2.804000	0.96469	0.462000	0.41574	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_005281			77	77		303	296	1		1	1		0	0	85	0		1	5.739072e-01	0	3	0	6	0	77	303
WASF2	10163	broad.mit.edu	37	1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	213					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443																																						ENST00000430629.2	0.780000	0.410000	6.900000e-01	4.900000e-01	0.580000	0.595192	0.580000	0.580000																										0				18						c.(637-639)Gtg>Atg		WAS protein family, member 2							272.0	246.0	255.0					1																	27741358		2203	4300	6503	SO:0001583	missense	10163	0	0					g.chr1:27741358C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.637G>A	chr1.hg19:g.27741358C>T	ENSP00000396211:p.Val213Met	1					WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	0	1	1	1.827221	Q9Y6W5	WASF2_HUMAN		6	852	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	1	1	hg19	c.637G>A	CCDS304.1	0	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407806	0.42715	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.43688	0.94;0.94	5.3	4.4	0.53042	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.79784	0.993;0.437	T	0.44922	-0.9296	10	0.40728	T	0.16	-7.0889	12.7663	0.57393	0.0:0.9206:0.0:0.0793	.	213;213	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	M	213	ENSP00000396211:V213M;ENSP00000439883:V213M	ENSP00000396211:V213M	V	-	1	0	0	WASF2	27613945	27613945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.484000	0.48361	0.491000	0.48974	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-6.502711	1	0.170000	NM_006990			34	32		587	579	0		1	1		0	0	145	0		1	9.999993e-01	0	13	0	361	0	34	587
AHDC1	27245	broad.mit.edu	37	1	27876902	27876902	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000247087.5	-	5	2321	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000374011.2_Silent_p.A575A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	575							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637																																						ENST00000247087.5	1.000000	0.900000	1	9.400000e-01	0.970000	0.976412	0.970000	0.990000																										0				42						c.(1723-1725)gcA>gcG		AT hook, DNA binding motif, containing 1							31.0	31.0	31.0					1																	27876902		2200	4297	6497	SO:0001819	synonymous_variant	27245	2	121394	30				g.chr1:27876902T>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1725A>G	chr1.hg19:g.27876902T>C		1					AHDC1_ENST00000374011.2_Silent_p.A575A	p.A575A			0	1	1	1.827221	Q5TGY3	AHDC1_HUMAN		5	2321	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	1	1	hg19	c.1725A>G	CCDS30652.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3	1	0	1		2	2	2	0		0	0	42		42	39	1	2.060000	-20.000000	1	0.170000				59	58		251	242	0		1	0		0	0	42	0		1	7.374043e-01	0	1	0	12	0	59	251
AHDC1	27245	broad.mit.edu	37	1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000247087.5	-	5	1315	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	240	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667																																						ENST00000247087.5	1.000000	0.870000	1	9.300000e-01	0.970000	0.969759	0.970000	0.990000																										0				42						c.(718-720)gCt>gTt		AT hook, DNA binding motif, containing 1							41.0	47.0	45.0					1																	27877908		2203	4300	6503	SO:0001583	missense	27245	0	0					g.chr1:27877908G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.719C>T	chr1.hg19:g.27877908G>A	ENSP00000247087:p.Ala240Val	1					AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V	p.A240V			0	1	1	1.827221	Q5TGY3	AHDC1_HUMAN		5	1315	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	1	1	hg19	c.719C>T	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110079	0.77210	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49139	0.79;0.79	5.16	4.24	0.50183	5.16	4.24	0.50183	.	0.000000	0.34314	U	0.004067	T	0.30885	0.0779	N	0.19112	0.55	0.36790	D	0.884808	B	0.26602	0.154	B	0.20955	0.032	T	0.36163	-0.9759	10	0.56958	D	0.05	-6.5369	10.2596	0.43419	0.0938:0.0:0.9062:0.0	.	240	Q5TGY3	AHDC1_HUMAN	V	240	ENSP00000247087:A240V;ENSP00000363123:A240V	ENSP00000247087:A240V	A	-	2	0	0	AHDC1	27750495	27750495	0.998000	0.40836	0.581000	0.28614	0.797000	0.45037	3.824000	0.55723	2.407000	0.81776	0.467000	0.42956	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				53	53		265	259	1		1	1		0	0	48	0		1	9.333161e-01	0	2	0	23	0	53	265
FGR	2268	broad.mit.edu	37	1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597																																						ENST00000374005.3	0.990000	0.570000	9.400000e-01	6.900000e-01	0.820000	0.821058	0.820000	0.870000																										0				16						c.(1462-1464)Tac>Cac		FGR proto-oncogene, Src family tyrosine kinase							84.0	71.0	76.0					1																	27939553		2203	4300	6503	SO:0001583	missense	2268	0	0					g.chr1:27939553A>G	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1462T>C	chr1.hg19:g.27939553A>G	ENSP00000363117:p.Tyr488His	1					FGR_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H	p.Y488H	NM_005248.2	NP_005239.1	0	1	1	1.827221	P09769	FGR_HUMAN		13	1750	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	1	1	hg19	c.1462T>C	CCDS305.1	0	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743203	0.03088	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.89	3.75	0.43078	4.89	3.75	0.43078	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.126247	0.34531	N	0.003890	D	0.84897	0.5574	L	0.55017	1.72	0.29442	N	0.85912	P	0.48294	0.908	P	0.54238	0.746	T	0.77115	-0.2707	10	0.22706	T	0.39	.	7.4482	0.27223	0.8264:0.0:0.1736:0.0	.	488	P09769	FGR_HUMAN	H	488;422;488;488;488	ENSP00000363117:Y488H;ENSP00000445302:Y422H;ENSP00000382126:Y488H;ENSP00000363116:Y488H;ENSP00000363115:Y488H	ENSP00000363115:Y488H	Y	-	1	0	0	FGR	27812140	27812140	1.000000	0.71417	0.324000	0.25361	0.033000	0.12548	6.332000	0.72934	0.807000	0.34208	0.478000	0.44815	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_005248			24	24		264	259	0		1	0		0	0	56	0		9.999997e-01	9.993723e-01	0	0	0	130	0	24	264
STX12	23673	broad.mit.edu	37	1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	74					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCAGCTCGCCAAGGAAAC	0.388																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4	0.750000	0.230000	6.000000e-01	3.300000e-01	0.450000	0.472675	0.450000	0.440000																										0				8						c.(220-222)Gcc>Acc		syntaxin 12							141.0	127.0	132.0					1																	28120075		2203	4300	6503	SO:0001583	missense	23673	2	121412	36				g.chr1:28120075G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.220G>A	chr1.hg19:g.28120075G>A	ENSP00000363054:p.Ala74Thr	1					STX12_ENST00000468761.1_3'UTR	p.A74T	NM_177424.2	NP_803173.1	0	1	1	1.827221	Q86Y82	STX12_HUMAN		3	345	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	1	1	hg19	c.220G>A	CCDS310.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.398737	0.96030	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.32272	1.46	5.49	5.49	0.81192	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.86028	2.79	0.44012	D	0.996725	D	0.63046	0.992	D	0.66979	0.948	T	0.65557	-0.6139	10	0.56958	D	0.05	-3.8443	19.3786	0.94521	0.0:0.0:1.0:0.0	.	74	Q86Y82	STX12_HUMAN	T	74	ENSP00000363054:A74T	ENSP00000363054:A74T	A	+	1	0	0	STX12	27992662	27992662	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.112579	1	0.170000	NM_177424			10	9		228	224	0		1	1		0	0	51	0		9.967233e-01	9.945375e-01	0	6	0	204	0	10	228
RPA2	6118	broad.mit.edu	37	1	28218701	28218701	+	Silent	SNP	G	G	A	rs367687334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	262	Asp/Glu-rich (acidic).|Interaction with RAD52, TIPIN, UNG and XPA.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.918955	0.920000	0.990000																										0				11						c.(784-786)gaC>gaT	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							115.0	108.0	111.0					1																	28218701		2203	4300	6503	SO:0001819	synonymous_variant	6118	0	0					g.chr1:28218701G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.786C>T	chr1.hg19:g.28218701G>A		1					RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	p.D262D	NM_002946.3	NP_002937.1	0	1	1	1.827221	P15927	RFA2_HUMAN		9	1085	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	Q52II0|Q5TEI9|Q5TEJ5	Silent	SNP	ENST00000373912.3	1	1	hg19	c.786C>T	CCDS314.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-15.575740	1	0.170000	NM_002946			46	45		405	399	1		1	1		0	0	72	0		1	1	0	35	0	208	0	46	405
XKR8	55113	broad.mit.edu	37	1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	366					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587																																						ENST00000373884.5	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.906101	0.910000	0.990000																										0				4						c.(1096-1098)tAt>tGt		XK, Kell blood group complex subunit-related family, member 8							51.0	52.0	51.0					1																	28293620		2203	4300	6503	SO:0001583	missense	55113	0	0					g.chr1:28293620A>G	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1097A>G	chr1.hg19:g.28293620A>G	ENSP00000362991:p.Tyr366Cys	1						p.Y366C	NM_018053.2	NP_060523.2	0	1	1	1.827221	Q9H6D3	XKR8_HUMAN		3	1705	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		Missense_Mutation	SNP	ENST00000373884.5	1	1	hg19	c.1097A>G	CCDS315.1	1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144827	0.21288	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	-4.13	0.03904	4.86	-4.13	0.03904	.	22.119600	0.00864	U	0.001946	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	9	0.44086	T	0.13	.	7.3174	0.26507	0.6509:0.1791:0.17:0.0	.	366	Q9H6D3	XKR8_HUMAN	C	366	.	ENSP00000362991:Y366C	Y	+	2	0	0	XKR8	28166207	28166207	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.918000	0.01574	-0.592000	0.05851	-0.462000	0.05337	TAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	1	0	1		2	2	2	0		0	0	86		86	83	1	2.060000	-20.000000	1	0.170000	NM_018053			40	38		362	357	1		1	1		0	0	86	0		1	9.899408e-01	0	15	0	52	0	40	362
SESN2	83667	broad.mit.edu	37	1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	373					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-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;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557																																						ENST00000253063.3	0.690000	0.240000	5.700000e-01	3.300000e-01	0.430000	0.455089	0.430000	0.430000																										0				27						c.(1117-1119)Ctc>Atc		sestrin 2							115.0	94.0	101.0					1																	28601432		2203	4300	6503	SO:0001583	missense	83667	0	0					g.chr1:28601432C>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1117C>A	chr1.hg19:g.28601432C>A	ENSP00000253063:p.Leu373Ile	1						p.L373I	NM_031459.4	NP_113647.1	0	1	1	1.827221	P58004	SESN2_HUMAN		8	1438	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	0	1	hg19	c.1117C>A	CCDS321.1	0	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671385	0.67814	.	.	ENSG00000130766	ENST00000253063	T	0.39787	1.06	5.18	2.27	0.28462	5.18	2.27	0.28462	.	0.067603	0.64402	D	0.000018	T	0.50616	0.1626	M	0.82132	2.575	0.58432	D	0.999999	P	0.51240	0.943	P	0.49421	0.61	T	0.54801	-0.8239	10	0.56958	D	0.05	-16.154	9.5751	0.39452	0.0:0.7637:0.0:0.2363	.	373	P58004	SESN2_HUMAN	I	373	ENSP00000253063:L373I	ENSP00000253063:L373I	L	+	1	0	0	SESN2	28474019	28474019	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	0.689000	0.31550	0.655000	0.94253	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-14.129510	1	0.170000				13	13		306	303	0		1	1		0	0	72	0		9.995321e-01	4.736171e-01	0	2	0	35	0	13	306
SESN2	83667	broad.mit.edu	37	1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	471					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-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;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617																																						ENST00000253063.3	0.990000	0.610000	9.400000e-01	7.200000e-01	0.830000	0.835830	0.830000	0.870000																										0				27						c.(1411-1413)gCc>gTc		sestrin 2							114.0	98.0	103.0					1																	28607282		2203	4300	6503	SO:0001583	missense	83667	0	0					g.chr1:28607282C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1412C>T	chr1.hg19:g.28607282C>T	ENSP00000253063:p.Ala471Val	1						p.A471V	NM_031459.4	NP_113647.1	0	1	1	1.827221	P58004	SESN2_HUMAN		10	1733	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	1	1	hg19	c.1412C>T	CCDS321.1	0	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787552	0.90367	.	.	ENSG00000130766	ENST00000253063	T	0.25414	1.8	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.472269	0.23563	N	0.046836	T	0.43500	0.1250	M	0.73430	2.235	0.52501	D	0.999954	P	0.52170	0.951	P	0.55011	0.766	T	0.41215	-0.9521	10	0.66056	D	0.02	-11.054	12.5017	0.55960	0.0:0.8311:0.1689:0.0	.	471	P58004	SESN2_HUMAN	V	471	ENSP00000253063:A471V	ENSP00000253063:A471V	A	+	2	0	0	SESN2	28479869	28479869	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.541000	0.53618	2.461000	0.83175	0.555000	0.69702	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1	1	0	1		2	2	2	0		0	0	105		105	92	1	2.060000	-10.762230	1	0.170000				36	34		402	382	1		1	1		0	0	105	0		1	8.582055e-01	0	7	0	34	0	36	402
PHACTR4	65979	broad.mit.edu	37	1	28800249	28800249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28800249C>T	ENST00000373839.3	+	7	1268	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	336	Pro-rich.				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)			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)		GAACTACTACCAATGATCTCA	0.527																																						ENST00000373839.3	0.300000	0.100000	2.500000e-01	1.400000e-01	0.190000	0.199597	0.190000	0.190000																										0				32						c.(1006-1008)cCa>cTa		phosphatase and actin regulator 4							199.0	205.0	203.0					1																	28800249		2084	4207	6291	SO:0001583	missense	65979	0	0					g.chr1:28800249C>T	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.1007C>T	chr1.hg19:g.28800249C>T	ENSP00000362945:p.Pro336Leu	1					PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L|PHACTR4_ENST00000493669.1_3'UTR	p.P336L	NM_001048183.1	NP_001041648.1	0	1	1	1.827221	Q8IZ21	PHAR4_HUMAN		7	1268	+		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)	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	0	1	hg19	c.1007C>T	CCDS41293.1	0	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701916	0.00725	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23754	1.92;1.89	5.64	-1.54	0.08584	5.64	-1.54	0.08584	.	1.460140	0.04085	N	0.310320	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.16420	T	0.52	1.6241	5.8643	0.18767	0.1764:0.5245:0.0:0.299	.	346;336	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	L	336;346;335	ENSP00000362945:P336L;ENSP00000362942:P346L	ENSP00000362942:P346L	P	+	2	0	0	PHACTR4	28672836	28672836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.057000	0.16193	-0.355000	0.07637	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	0	0	1		2	2	2	0		0	0	184		184	182	1	2.060000	-2.052085	0	0.170000	NM_023923			15	14		836	805	0		1	1		0	0	184	0		9.998265e-01	2.891862e-01	0	2	0	55	0	15	836
PHACTR4	65979	broad.mit.edu	37	1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	RNU6ATAC27P_ENST00000408289.1_RNA|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578					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)			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)		AATGAAATACGGCACCAGATT	0.423																																						ENST00000373839.3	1.000000	0.730000	9.700000e-01	8.100000e-01	0.900000	0.898586	0.900000	0.950000																										0				32						c.(1732-1734)cGg>cAg		phosphatase and actin regulator 4							224.0	206.0	212.0					1																	28807089		2000	4169	6169	SO:0001583	missense	65979	0	0					g.chr1:28807089G>A	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.1733G>A	chr1.hg19:g.28807089G>A	ENSP00000362945:p.Arg578Gln	1					PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q|PHACTR4_ENST00000493669.1_3'UTR|RNU6ATAC27P_ENST00000408289.1_RNA	p.R578Q	NM_001048183.1	NP_001041648.1	0	1	1	1.827221	Q8IZ21	PHAR4_HUMAN		9	1994	+		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)	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	1	1	hg19	c.1733G>A	CCDS41293.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775338	0.90108	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.39229	1.11;1.09	5.62	4.71	0.59529	5.62	4.71	0.59529	.	0.112912	0.64402	D	0.000010	T	0.65144	0.2663	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.73708	0.966;0.981	T	0.70389	-0.4885	10	0.72032	D	0.01	-4.0794	13.5134	0.61526	0.075:0.0:0.925:0.0	.	588;578	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Q	578;588;577	ENSP00000362945:R578Q;ENSP00000362942:R588Q	ENSP00000362942:R588Q	R	+	2	0	0	PHACTR4	28679676	28679676	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.913000	0.87471	1.379000	0.46325	-0.234000	0.12200	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	1	0	1		2	2	2	0		0	0	210		210	209	1	2.060000	-2.841672	1	0.170000	NM_023923			67	65		683	662	1		1	1		0	0	210	0		1	9.870113e-01	0	7	0	63	0	67	683
RCC1	1104	broad.mit.edu	37	1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	325					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)			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)		TGAGTATGGGCGGCTGGGCCT	0.612																																						ENST00000373833.6	1.000000	0.950000	1	9.700000e-01	0.980000	0.990870	0.980000	0.990000																										0				14						c.(973-975)Cgg>Tgg		regulator of chromosome condensation 1							97.0	98.0	97.0					1																	28863294		2203	4300	6503	SO:0001583	missense	1104	0	0					g.chr1:28863294C>T	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.973C>T	chr1.hg19:g.28863294C>T	ENSP00000362939:p.Arg325Trp	1					RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W	p.R325W			0	1	1	1.827221	P18754	RCC1_HUMAN		12	1258	+		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)	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	1	1	hg19	c.973C>T	CCDS323.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532939	0.85812	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.8	4.88	0.63580	5.8	4.88	0.63580	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.95328	3.655	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	0.95339	0.8436	10	0.87932	D	0	-19.6537	12.7877	0.57516	0.2978:0.7022:0.0:0.0	.	356;342;325	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	325;325;325;356;342	ENSP00000381931:R325W;ENSP00000362939:R325W;ENSP00000362938:R325W;ENSP00000362937:R356W;ENSP00000413644:R342W	ENSP00000362937:R356W	R	+	1	2	2	RCC1	28735881	28735881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.097000	0.50251	1.423000	0.47198	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	1	0	1		2	2	2	0		0	0	139		139	136	1	2.060000	-20.000000	1	0.170000	NM_001269			132	128		547	539	1		1	1		0	0	139	0		1	1	0	48	0	91	0	132	547
TRNAU1AP	54952	broad.mit.edu	37	1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	102	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512																																						ENST00000373830.3	1.000000	0.690000	9.700000e-01	7.900000e-01	0.890000	0.883386	0.890000	0.950000																										0				8						c.(304-306)Gac>Tac		tRNA selenocysteine 1 associated protein 1							163.0	152.0	156.0					1																	28891240		2203	4300	6503	SO:0001583	missense	54952	0	0					g.chr1:28891240G>T		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.304G>T	chr1.hg19:g.28891240G>T	ENSP00000362936:p.Asp102Tyr	1					TRNAU1AP_ENST00000495995.1_3'UTR	p.D102Y	NM_017846.4	NP_060316.1	0	1	1	1.827221	Q9NX07	TSAP1_HUMAN		5	330	+			Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	1	1	hg19	c.304G>T	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.085489	0.94100	.	.	ENSG00000180098	ENST00000373830	T	0.16457	2.34	5.93	5.93	0.95920	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092822	0.64402	D	0.000001	T	0.39253	0.1071	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03684	-1.1013	10	0.87932	D	0	.	17.0453	0.86500	0.0:0.0:1.0:0.0	.	102	Q9NX07	TSAP1_HUMAN	Y	102	ENSP00000362936:D102Y	ENSP00000362936:D102Y	D	+	1	0	0	TRNAU1AP	28763827	28763827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.814000	0.96858	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-13.358800	1	0.170000	NM_017846			45	45		455	451	1		1	1		0	0	120	0		1	9.994132e-01	0	18	0	95	0	45	455
GMEB1	10691	broad.mit.edu	37	1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000294409.2	+	8	901	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GMEB1_ENST00000373816.1_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	271					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-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)		GCTGATGGAAGAGGTTGTCTG	0.468																																						ENST00000294409.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.984284	0.980000	0.990000																										0				11						c.(811-813)Gag>Aag		glucocorticoid modulatory element binding protein 1							141.0	140.0	140.0					1																	29030754		2203	4300	6503	SO:0001583	missense	10691	0	0					g.chr1:29030754G>A	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.811G>A	chr1.hg19:g.29030754G>A	ENSP00000294409:p.Glu271Lys	1					GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000373816.1_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	p.E271K	NM_006582.3	NP_006573.2	0	1	1	1.827221	Q9Y692	GMEB1_HUMAN		8	901	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	1	1	hg19	c.811G>A	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466274	0.84425	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.62498	0.03;0.03;0.02	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.43152	1.355	0.38376	D	0.944996	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.72427	-0.4297	10	0.62326	D	0.03	-11.8053	19.0481	0.93030	0.0:0.0:1.0:0.0	.	271;261	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	261;237;261;271	ENSP00000362922:E261K;ENSP00000355186:E261K;ENSP00000294409:E271K	ENSP00000294409:E271K	E	+	1	0	0	GMEB1	28903341	28903341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.808000	0.96608	0.650000	0.86243	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.132820	1	0.170000	NM_006582			83	81		340	334	1		1	1		0	0	81	0		1	9.972638e-01	0	13	0	26	0	83	340
GMEB1	10691	broad.mit.edu	37	1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000294409.2	+	9	1062	c.972A>C	c.(970-972)agA>agC	p.R324S	GMEB1_ENST00000373816.1_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	324					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-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)		TAGACAACAGAAGGAACCAAG	0.393																																						ENST00000294409.2	1.000000	0.930000	1	9.600000e-01	0.980000	0.986128	0.980000	0.990000																										0				11						c.(970-972)agA>agC		glucocorticoid modulatory element binding protein 1							191.0	169.0	177.0					1																	29037105		2203	4300	6503	SO:0001583	missense	10691	0	0					g.chr1:29037105A>C	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.972A>C	chr1.hg19:g.29037105A>C	ENSP00000294409:p.Arg324Ser	1					GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000373816.1_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	p.R324S	NM_006582.3	NP_006573.2	0	1	1	1.827221	Q9Y692	GMEB1_HUMAN		9	1062	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	1	1	hg19	c.972A>C	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133479	0.56828	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.58940	0.3;0.3;0.3	5.38	-1.54	0.08584	5.38	-1.54	0.08584	.	0.049383	0.85682	D	0.000000	T	0.46034	0.1372	L	0.56769	1.78	0.20403	N	0.999907	P;P	0.39480	0.675;0.462	B;B	0.30943	0.122;0.063	T	0.45425	-0.9262	10	0.46703	T	0.11	-27.8777	13.9953	0.64392	0.2001:0.0:0.7999:0.0	.	324;314	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	314;290;314;324	ENSP00000362922:R314S;ENSP00000355186:R314S;ENSP00000294409:R324S	ENSP00000294409:R324S	R	+	3	2	2	GMEB1	28909692	28909692	0.997000	0.39634	0.992000	0.48379	0.998000	0.95712	0.286000	0.18902	-0.280000	0.09154	0.529000	0.55759	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_006582			91	90		364	360	1		1	1		0	0	122	0		1	9.706133e-01	0	8	0	17	0	91	364
OPRD1	4985	broad.mit.edu	37	1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|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)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACATCTTCGTCATCGTCTG	0.662																																						ENST00000234961.2	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.954174	0.960000	0.990000																										0				15						c.(841-843)Gtc>Atc		opioid receptor, delta 1	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)						30.0	26.0	27.0					1																	29189517		2201	4298	6499	SO:0001583	missense	4985	0	0					g.chr1:29189517G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.841G>A	chr1.hg19:g.29189517G>A	ENSP00000234961:p.Val281Ile	1						p.V281I	NM_000911.3	NP_000902.3	0	1	1	1.827221	P41143	OPRD_HUMAN		3	1083	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	1	1	hg19	c.841G>A	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	0	OPRD1	29062104	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_000911			25	25		72	71	1		1			0	0	21	0		1	0	0	0	0	0	0	25	72
TMEM200B	399474	broad.mit.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642																																						ENST00000420504.2	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.952829	0.960000	0.990000																										0				1						c.(841-843)cGa>cAa		transmembrane protein 200B							21.0	23.0	22.0					1																	29447499		2203	4300	6503	SO:0001583	missense	399474	1	121408	26				g.chr1:29447499C>T		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	chr1.hg19:g.29447499C>T	ENSP00000428544:p.Arg281Gln	1					TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	p.R281Q	NM_001171868.1	NP_001165339.1	0	1	1	1.827221	Q69YZ2	T200B_HUMAN		2	999	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	1	1	hg19	c.842G>A	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	0	TMEM200B	29320086	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.592439	1	0.170000	NM_001003682			29	28		120	119	1		1	1		0	0	36	0		1	9.999424e-01	0	13	0	55	0	29	120
PTPRU	10076	broad.mit.edu	37	1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000345512.3	+	7	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	336	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)			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)		TGAGGTGCACGCCGTCAGCCT	0.647																																						ENST00000345512.3	0.950000	0.480000	8.500000e-01	5.900000e-01	0.710000	0.725899	0.710000	0.720000																										0				79						c.(1006-1008)Gcc>Acc		protein tyrosine phosphatase, receptor type, U							63.0	60.0	61.0					1																	29587277		2203	4300	6503	SO:0001583	missense	10076	3	121408	33				g.chr1:29587277G>A	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.1006G>A	chr1.hg19:g.29587277G>A	ENSP00000334941:p.Ala336Thr	1					PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T	p.A336T	NM_005704.4	NP_005695.3	0	1	1	1.827221	Q92729	PTPRU_HUMAN		7	1135	+		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)	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	1	1	hg19	c.1006G>A	CCDS334.1	0	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958342	0.73902	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.22	4.25	0.50352	5.22	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152411	0.42682	D	0.000668	T	0.58921	0.2156	L	0.56769	1.78	0.49051	D	0.999743	D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.992	P;P;P;P;P	0.52343	0.57;0.57;0.57;0.696;0.696	T	0.59878	-0.7371	9	.	.	.	.	14.3429	0.66641	0.0:0.1488:0.8512:0.0	.	336;336;336;336;336	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	336	ENSP00000334941:A336T;ENSP00000362884:A336T;ENSP00000349333:A336T;ENSP00000314987:A336T;ENSP00000392332:A336T;ENSP00000432906:A336T	.	A	+	1	0	0	PTPRU	29459864	29459864	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	7.926000	0.87569	2.418000	0.82041	0.462000	0.41574	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	0	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-3.142723	1	0.170000				26	26		356	351	0		1	0		0	0	76	0		9.999999e-01	6.213759e-01	0	0	0	30	0	26	356
PTPRU	10076	broad.mit.edu	37	1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000345512.3	+	12	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	640	Fibronectin type-III 4. {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)			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)		TGCGGCGGGAGCCAGGTGGAC	0.677																																						ENST00000345512.3	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.937938	0.940000	0.990000																										0				79						c.(1918-1920)gaG>gaT		protein tyrosine phosphatase, receptor type, U							58.0	51.0	53.0					1																	29609239		2203	4298	6501	SO:0001583	missense	10076	0	0					g.chr1:29609239G>T	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.1920G>T	chr1.hg19:g.29609239G>T	ENSP00000334941:p.Glu640Asp	1					PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D	p.E640D	NM_005704.4	NP_005695.3	0	1	1	1.827221	Q92729	PTPRU_HUMAN		12	2049	+		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)	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	1	1	hg19	c.1920G>T	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257525	0.59321	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33216	1.46;1.48;1.48;1.48;1.42;1.48	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.64404	1.975	0.50467	D	0.999876	B;B;B;B;B	0.28933	0.228;0.228;0.228;0.146;0.146	B;B;B;B;B	0.27262	0.078;0.078;0.078;0.036;0.036	T	0.07443	-1.0772	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	640;640;640;640;640	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	D	640	ENSP00000334941:E640D;ENSP00000362884:E640D;ENSP00000349333:E640D;ENSP00000314987:E640D;ENSP00000392332:E640D;ENSP00000432906:E640D	.	E	+	3	2	2	PTPRU	29481826	29481826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.259000	0.51515	2.598000	0.87819	0.549000	0.68633	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				39	37		280	277	1		1	1		0	0	47	0		1	9.555838e-01	0	6	0	33	0	39	280
PTPRU	10076	broad.mit.edu	37	1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000345512.3	+	13	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	722					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)			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)		AATTGCATCCGCATTGCCAGG	0.627																																						ENST00000345512.3	1.000000	0.870000	1	9.300000e-01	0.970000	0.967051	0.970000	0.990000																										0				79						c.(2164-2166)cGc>cAc		protein tyrosine phosphatase, receptor type, U							108.0	109.0	109.0					1																	29610474		2203	4300	6503	SO:0001583	missense	10076	0	0					g.chr1:29610474G>A	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.2165G>A	chr1.hg19:g.29610474G>A	ENSP00000334941:p.Arg722His	1					PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H	p.R722H	NM_005704.4	NP_005695.3	0	1	1	1.827221	Q92729	PTPRU_HUMAN		13	2294	+		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)	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	1	1	hg19	c.2165G>A	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.545457	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.36878	1.23;1.34;1.34;1.34;1.28;1.34	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	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	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.65541	-0.6143	9	.	.	.	.	18.351	0.90338	0.0:0.0:1.0:0.0	.	722;722;722;722;722	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	722	ENSP00000334941:R722H;ENSP00000362884:R722H;ENSP00000349333:R722H;ENSP00000314987:R722H;ENSP00000392332:R722H;ENSP00000432906:R722H	.	R	+	2	0	0	PTPRU	29483061	29483061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.022000	0.93678	2.577000	0.86979	0.549000	0.68633	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-3.221883	1	0.170000				86	86		632	625	1		1	1		0	0	151	0		1	9.663337e-01	0	7	0	35	0	86	632
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A	rs374948381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000345512.3	+	22	3157	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1. {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.G1006W(2)|p.G1010W(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)		AGACACCTACGGGGACATCAA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.001					ENST00000345512.3	1.000000	0.950000	1	9.700000e-01	0.980000	0.990553	0.980000	0.990000																										3	Substitution - Missense(3)	p.G1006W(2)|p.G1010W(1)	lung(3)	79						c.(3028-3030)Ggg>Agg		protein tyrosine phosphatase, receptor type, U							130.0	115.0	120.0					1																	29638197		2203	4300	6503	SO:0001583	missense	10076	2	121412	32				g.chr1:29638197G>A	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.3028G>A	chr1.hg19:g.29638197G>A	ENSP00000334941:p.Gly1010Arg	1					PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R	p.G1010R	NM_005704.4	NP_005695.3	0	1	1	1.827221	Q92729	PTPRU_HUMAN		22	3157	+		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)	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	1	1	hg19	c.3028G>A	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841584	0.91197	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.67	4.67	0.58626	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.89353	3.025	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	T	0.76181	-0.3053	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	997;1006;1000;1006;1010	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1010;1000;1006;1006;997;1006	ENSP00000334941:G1010R;ENSP00000362884:G1000R;ENSP00000349333:G1006R;ENSP00000314987:G1006R;ENSP00000392332:G997R;ENSP00000432906:G1006R	.	G	+	1	0	0	PTPRU	29510784	29510784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1		2	2	2	0		0	0	150		150	147	1	2.060000	-2.550887	1	0.170000				129	128		538	532	1		1	1		0	0	150	0		1	9.998178e-01	0	14	0	40	0	129	538
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T	rs373848420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622																																						ENST00000373765.4	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.937710	0.940000	0.990000																										1	Substitution - Missense(1)	p.A248T(1)	large_intestine(1)	12						c.(742-744)Gcc>Acc		matrilin 1, cartilage matrix protein		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	59.0	64.0		742	1.8	0.8	1		64	0,8600		0,0,4300	no	missense	MATN1	NM_002379.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	248/497	31189685	1,13005	2203	4300	6503	SO:0001583	missense	4146	2	121410	24				g.chr1:31189685C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.742G>A	chr1.hg19:g.31189685C>T	ENSP00000362870:p.Ala248Thr	1					MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	p.A248T	NM_002379.3	NP_002370.1	0	1	1	1.827221	P21941	MATN1_HUMAN		4	777	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	1	1	hg19	c.742G>A	CCDS336.1	1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	0	MATN1	30962272	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-15.153880	1	0.170000	NM_002379			23	23		106	105	1		1	0		0	0	33	0		9.999997e-01	0	0	1	0	0	0	23	106
LAPTM5	7805	broad.mit.edu	37	1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	224					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537																																						ENST00000294507.3	1.000000	0.790000	9.900000e-01	8.700000e-01	0.930000	0.931758	0.930000	0.990000																										0				10						c.(670-672)gaG>gaT		lysosomal protein transmembrane 5							314.0	273.0	287.0					1																	31208047		2203	4300	6503	SO:0001583	missense	7805	0	0					g.chr1:31208047C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.672G>T	chr1.hg19:g.31208047C>A	ENSP00000294507:p.Glu224Asp	1						p.E224D	NM_006762.2	NP_006753.1	0	1	1	1.827221	Q13571	LAPM5_HUMAN		7	746	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	1	1	hg19	c.672G>T	CCDS337.1	1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594858	0.13875	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.7	0.173	0.15036	5.7	0.173	0.15036	.	0.836425	0.10819	N	0.630715	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23013	-1.0200	10	0.26408	T	0.33	-1.0306	6.6261	0.22830	0.0:0.3532:0.4728:0.1741	.	224	Q13571	LAPM5_HUMAN	D	224	ENSP00000294507:E224D	ENSP00000294507:E224D	E	-	3	2	2	LAPTM5	30980634	30980634	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	0.321000	0.23259	-0.844000	0.03045	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	1	0	1		2	2	2	0		0	0	241		241	238	1	2.060000	-19.999920	1	0.170000	NM_006762			91	88		867	842	0		1	0		0	0	241	0		1	1	0	0	0	2011	0	91	867
LAPTM5	7805	broad.mit.edu	37	1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	147					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542																																						ENST00000294507.3	1.000000	0.440000	9.600000e-01	6.400000e-01	0.830000	0.806859	0.830000	0.990000																										0				10						c.(439-441)aGc>aTc		lysosomal protein transmembrane 5							70.0	59.0	63.0					1																	31211857		2203	4300	6503	SO:0001583	missense	7805	0	0					g.chr1:31211857C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.440G>T	chr1.hg19:g.31211857C>A	ENSP00000294507:p.Ser147Ile	1					LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	p.S147I	NM_006762.2	NP_006753.1	0	1	1	1.827221	Q13571	LAPM5_HUMAN		5	514	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	0	1	hg19	c.440G>T	CCDS337.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119689	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58940	0.3	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.053362	0.85682	D	0.000000	T	0.74906	0.3778	M	0.72118	2.19	0.42479	D	0.99285	D	0.89917	1.0	D	0.81914	0.995	T	0.77360	-0.2617	10	0.87932	D	0	-35.521	15.3854	0.74695	0.0:1.0:0.0:0.0	.	147	Q13571	LAPM5_HUMAN	I	147	ENSP00000294507:S147I	ENSP00000294507:S147I	S	-	2	0	0	LAPTM5	30984444	30984444	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.270000	0.58896	2.701000	0.92244	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-12.591920	1	0.170000	NM_006762			6	6		37	36	1		1	0		0	0	15	0		9.663271e-01	1	0	1	0	1983	0	6	37
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T	rs369470045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627																																						ENST00000294507.3	1.000000	0.810000	9.900000e-01	9.000000e-01	0.960000	0.951444	0.960000	0.990000																										0				10						c.(58-60)Gca>Aca		lysosomal protein transmembrane 5		C	THR/ALA	0,4406		0,0,2203	82.0	77.0	79.0		58	5.4	1.0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAPTM5	NM_006762.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	20/263	31230535	1,13005	2203	4300	6503	SO:0001583	missense	7805	1	121396	36				g.chr1:31230535C>T	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.58G>A	chr1.hg19:g.31230535C>T	ENSP00000294507:p.Ala20Thr	1					LAPTM5_ENST00000476492.1_5'UTR	p.A20T	NM_006762.2	NP_006753.1	0	1	1	1.827221	Q13571	LAPM5_HUMAN		1	132	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	1	1	hg19	c.58G>A	CCDS337.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753101	0.89753	0.0	1.16E-4	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.407078	0.25361	N	0.031230	T	0.50820	0.1638	L	0.29908	0.895	0.35481	D	0.798177	D	0.89917	1.0	P	0.56216	0.794	T	0.61377	-0.7075	10	0.66056	D	0.02	-37.7545	14.5121	0.67794	0.0:1.0:0.0:0.0	.	20	Q13571	LAPM5_HUMAN	T	20	ENSP00000294507:A20T	ENSP00000294507:A20T	A	-	1	0	0	LAPTM5	31003122	31003122	0.983000	0.35010	0.963000	0.40424	0.567000	0.35839	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-3.422693	1	0.170000	NM_006762			31	30		147	142	1		1	0		0	0	34	0		1	1	0	1	0	1128	0	31	147
SDC3	9672	broad.mit.edu	37	1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000339394.6	-	3	919	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	SDC3_ENST00000336798.7_Missense_Mutation_p.V191I|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	249	Ser/Thr-rich (mucin-like).				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)				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)		GCTGTGCTGACCAGCCTGGGT	0.706																																						ENST00000339394.6	1.000000	0.880000	1	9.400000e-01	0.970000	0.973143	0.970000	0.990000																										0				21						c.(745-747)Gtc>Atc		syndecan 3							23.0	27.0	26.0					1																	31349524		2201	4298	6499	SO:0001583	missense	9672	0	0					g.chr1:31349524C>T	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.745G>A	chr1.hg19:g.31349524C>T	ENSP00000344468:p.Val249Ile	1					SDC3_ENST00000336798.7_Missense_Mutation_p.V191I|SDC3_ENST00000471567.1_5'Flank	p.V249I	NM_014654.3	NP_055469.3	0	1	1	1.827221	O75056	SDC3_HUMAN		3	919	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	1	1	hg19	c.745G>A	CCDS30661.1	1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547782	0.65311	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.26957	1.7;1.72	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.104244	0.40818	N	0.001018	T	0.22627	0.0546	L	0.27053	0.805	0.34526	D	0.7087	P;B	0.34587	0.458;0.284	B;B	0.34824	0.19;0.175	T	0.24764	-1.0151	10	0.44086	T	0.13	-21.7528	18.7907	0.91973	0.0:1.0:0.0:0.0	.	249;191	O75056;D3DPN2	SDC3_HUMAN;.	I	191;249	ENSP00000338346:V191I;ENSP00000344468:V249I	ENSP00000338346:V191I	V	-	1	0	0	SDC3	31122111	31122111	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.012000	0.49575	2.434000	0.82447	0.462000	0.41574	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_014654			43	42		128	126	1		1	1		0	0	25	0		1	1	0	30	0	139	0	43	128
SNRNP40	9410	broad.mit.edu	37	1	31766156	31766156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	61					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478																																						ENST00000263694.4	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.948552	0.950000	0.990000																										0				7						c.(181-183)Ctg>Ttg		small nuclear ribonucleoprotein 40kDa (U5)							90.0	75.0	80.0					1																	31766156		2203	4300	6503	SO:0001819	synonymous_variant	9410	0	0					g.chr1:31766156G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.181C>T	chr1.hg19:g.31766156G>A		1					SNRNP40_ENST00000446633.2_Silent_p.L61L	p.L61L	NM_004814.2	NP_004805.2	0	1	1	1.827221	Q96DI7	SNR40_HUMAN		2	199	-			B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	1	1	hg19	c.181C>T	CCDS340.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_004814			32	31		169	168	1		1	1		0	0	52	0		1	9.999999e-01	0	43	0	101	0	32	169
SERINC2	347735	broad.mit.edu	37	1	31905859	31905859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373709.3	+	9	1209	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	SERINC2_ENST00000373710.1_Silent_p.T362T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	353					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612																																						ENST00000373709.3	1.000000	0.560000	9.600000e-01	7.100000e-01	0.860000	0.845258	0.860000	0.990000																										0				12						c.(1057-1059)acC>acT		serine incorporator 2							40.0	35.0	37.0					1																	31905859		2202	4300	6502	SO:0001819	synonymous_variant	347735	18	121262	40				g.chr1:31905859C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1059C>T	chr1.hg19:g.31905859C>T		1					SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000373710.1_Silent_p.T362T|SERINC2_ENST00000491976.1_3'UTR	p.T353T	NM_178865.4	NP_849196.2	0	1	1	1.827221	Q96SA4	SERC2_HUMAN		9	1209	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	1	1	hg19	c.1059C>T	CCDS30662.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-19.963820	1	0.170000	NM_018565			14	13		120	117	1		1	1		0	0	29	0		9.997626e-01	1	0	197	0	592	0	14	120
TINAGL1	64129	broad.mit.edu	37	1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	347					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0					ENST00000271064.7	1.000000	0.960000	1	9.700000e-01	0.990000	0.993004	0.990000	0.990000																										0				18						c.(1039-1041)Ggc>Agc		tubulointerstitial nephritis antigen-like 1		G	SER/GLY,SER/GLY,SER/GLY	4,4402	8.1+/-20.4	0,4,2199	83.0	92.0	89.0		946,724,1039	4.3	0.8	1	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	TINAGL1	NM_001204414.1,NM_001204415.1,NM_022164.2	56,56,56	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	316/437,242/363,347/468	32050933	4,13002	2203	4300	6503	SO:0001583	missense	64129	10	121386	43				g.chr1:32050933G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1039G>A	chr1.hg19:g.32050933G>A	ENSP00000271064:p.Gly347Ser	1					TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	p.G347S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	0	1	1	1.827221	Q9GZM7	TINAL_HUMAN		8	1115	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	1	1	hg19	c.1039G>A	CCDS343.1	1	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.304398	0.01353	9.08E-4	0.0	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.86097	-2.07;-2.07	5.31	4.29	0.51040	5.31	4.29	0.51040	Peptidase C1A, papain C-terminal (2);	0.229383	0.45361	D	0.000367	T	0.55289	0.1911	N	0.00413	-1.525	0.80722	D	1	B;B	0.20671	0.037;0.047	B;B	0.15052	0.009;0.012	T	0.64347	-0.6429	10	0.02654	T	1	.	15.0297	0.71696	0.0:0.0:0.8029:0.1971	.	316;347	B4DPK6;Q9GZM7	.;TINAL_HUMAN	S	316;347;335	ENSP00000395137:G316S;ENSP00000271064:G347S	ENSP00000271064:G347S	G	+	1	0	0	TINAGL1	31823520	31823520	0.999000	0.42202	0.790000	0.31976	0.009000	0.06853	3.019000	0.49635	2.655000	0.90218	0.655000	0.94253	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-4.432062	1	0.170000	NM_022164			143	141		477	468	1		1	1		0	0	115	0		1	1	0	245	0	235	0	143	477
HCRTR1	3061	broad.mit.edu	37	1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000373706.5	+	1	298	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	49					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597																																						ENST00000373706.5	1.000000	0.790000	9.900000e-01	8.700000e-01	0.930000	0.931415	0.930000	0.990000																										0				7						c.(145-147)Ctc>Atc		hypocretin (orexin) receptor 1							144.0	145.0	144.0					1																	32084938		2203	4300	6503	SO:0001583	missense	3061	0	0					g.chr1:32084938C>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.145C>A	chr1.hg19:g.32084938C>A	ENSP00000362810:p.Leu49Ile	1					HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I	p.L49I			0	1	1	1.827221	O43613	OX1R_HUMAN		1	298	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	1	1	hg19	c.145C>A	CCDS344.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.43294	0.95;0.95;0.95	4.03	4.03	0.46877	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000004	T	0.51058	0.1652	L	0.47190	1.495	0.43863	D	0.996469	D;P	0.61697	0.99;0.941	P;P	0.58013	0.831;0.693	T	0.50898	-0.8773	10	0.44086	T	0.13	.	14.47	0.67509	0.0:1.0:0.0:0.0	.	49;49	A6NMV7;O43613	.;OX1R_HUMAN	I	49	ENSP00000384387:L49I;ENSP00000362810:L49I;ENSP00000362809:L49I	ENSP00000362809:L49I	L	+	1	0	0	HCRTR1	31857525	31857525	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.548000	0.53670	2.160000	0.67779	0.591000	0.81541	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	1	0	1		2	2	2	0		0	0	171		171	171	1	2.060000	-3.142702	1	0.170000	NM_001525			81	80		759	751	0		1	0		0	0	171	0		1	0	0	0	0	1	0	81	759
COL16A1	1307	broad.mit.edu	37	1	32133784	32133784	+	Silent	SNP	C	C	A	rs375549047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1095	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3	1.000000	0.640000	9.700000e-01	7.600000e-01	0.880000	0.871398	0.880000	0.990000																										0				48						c.(3283-3285)acG>acT		collagen, type XVI, alpha 1							56.0	64.0	61.0					1																	32133784		1883	4109	5992	SO:0001819	synonymous_variant	1307	0	0					g.chr1:32133784C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3285G>T	chr1.hg19:g.32133784C>A		1					COL16A1_ENST00000271069.6_Silent_p.T1095T	p.T1095T	NM_001856.3	NP_001847.3	0	1	1	1.827221	Q07092	COGA1_HUMAN		51	3801	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	1	1	hg19	c.3285G>T	CCDS41297.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-2.716734	1	0.170000	NM_001856			27	26		257	249	0		1	1		0	0	79	0		1	1	0	3	0	273	0	27	257
COL16A1	1307	broad.mit.edu	37	1	32138370	32138370	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	977	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3	0.860000	0.360000	7.300000e-01	4.600000e-01	0.580000	0.602837	0.580000	0.580000																										0				48						c.(2929-2931)ggA>ggG		collagen, type XVI, alpha 1							73.0	81.0	78.0					1																	32138370		1990	4161	6151	SO:0001819	synonymous_variant	1307	0	0					g.chr1:32138370T>C	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2931A>G	chr1.hg19:g.32138370T>C		1					COL16A1_ENST00000271069.6_Silent_p.G977G	p.G977G	NM_001856.3	NP_001847.3	0	1	1	1.827221	Q07092	COGA1_HUMAN		45	3447	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	1	1	hg19	c.2931A>G	CCDS41297.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.833330	1	0.170000	NM_001856			18	18		308	298	0		1	0		0	0	49	0		9.999785e-01	9.999628e-01	0	0	0	297	0	18	308
BAI2	576	broad.mit.edu	37	1	32196611	32196611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.A1378A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1390					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677																																						ENST00000373658.3	1.000000	0.720000	9.900000e-01	8.300000e-01	0.920000	0.915449	0.920000	0.990000																										0				55						c.(4168-4170)gcC>gcT		brain-specific angiogenesis inhibitor 2							18.0	24.0	22.0					1																	32196611		2200	4300	6500	SO:0001819	synonymous_variant	576	0	0					g.chr1:32196611G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4170C>T	chr1.hg19:g.32196611G>A		1					BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000373655.2_Silent_p.A1390A	p.A1390A	NM_001703.2	NP_001694.2	0	1	1	1.827221	O60241	BAI2_HUMAN		29	4511	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	1	1	hg19	c.4170C>T	CCDS346.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_001703			24	24		164	162	0		1	0		0	0	29	0		9.999998e-01	4.869627e-02	0	0	0	3	0	24	164
BAI2	576	broad.mit.edu	37	1	32198193	32198193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.C1203C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1215					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCCCATCTGGCACTTCACCA	0.657																																						ENST00000373658.3	0.980000	0.420000	9.100000e-01	5.700000e-01	0.750000	0.746441	0.750000	0.790000																										0				55						c.(3643-3645)tgC>tgT		brain-specific angiogenesis inhibitor 2							50.0	44.0	46.0					1																	32198193		2203	4300	6503	SO:0001819	synonymous_variant	576	0	0					g.chr1:32198193G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3645C>T	chr1.hg19:g.32198193G>A		1					BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000373655.2_Silent_p.C1215C	p.C1215C	NM_001703.2	NP_001694.2	0	1	1	1.827221	O60241	BAI2_HUMAN		27	3986	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	1	1	hg19	c.3645C>T	CCDS346.2	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-15.883940	1	0.170000	NM_001703			11	11		131	128	0		1	0		0	0	40	0		9.983630e-01	2.341520e-01	0	1	0	10	0	11	131
BAI2	576	broad.mit.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642																																						ENST00000373658.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.978975	0.980000	0.990000																										0				55						c.(1447-1449)gCg>gTg		brain-specific angiogenesis inhibitor 2							66.0	65.0	65.0					1																	32207538		2203	4300	6503	SO:0001583	missense	576	0	0					g.chr1:32207538G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1448C>T	chr1.hg19:g.32207538G>A	ENSP00000362762:p.Ala483Val	1					BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V	p.A483V	NM_001703.2	NP_001694.2	0	1	1	1.827221	O60241	BAI2_HUMAN		9	1789	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	1	1	hg19	c.1448C>T	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	0	BAI2	31980125	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1		2	2	2	0		0	0	97		97	94	1	2.060000	-20.000000	1	0.170000	NM_001703			67	67		293	289	1		1	0		0	0	97	0		1	2.387143e-01	0	0	0	5	0	67	293
BAI2	576	broad.mit.edu	37	1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701																																						ENST00000373658.3	0.950000	0.460000	8.400000e-01	5.700000e-01	0.700000	0.711655	0.700000	0.700000																										0				55						c.(718-720)Ggc>Tgc		brain-specific angiogenesis inhibitor 2							36.0	45.0	42.0					1																	32221720		2203	4299	6502	SO:0001583	missense	576	0	0					g.chr1:32221720C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.718G>T	chr1.hg19:g.32221720C>A	ENSP00000362762:p.Gly240Cys	1					BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C	p.G240C	NM_001703.2	NP_001694.2	0	1	1	1.827221	O60241	BAI2_HUMAN		4	1059	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	1	1	hg19	c.718G>T	CCDS346.2	0	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221614	0.22457	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44881	1.59;1.79;0.96;0.96;1.94;0.91;0.91;0.98;1.56;1.42	5.08	2.03	0.26663	5.08	2.03	0.26663	.	0.169510	0.28515	N	0.015080	T	0.27697	0.0681	N	0.14661	0.345	0.19300	N	0.999974	B;D;B;P;P;B	0.58268	0.412;0.982;0.086;0.771;0.606;0.0	B;P;B;B;B;B	0.47162	0.161;0.54;0.015;0.321;0.424;0.0	T	0.08452	-1.0721	10	0.54805	T	0.06	.	7.7798	0.29058	0.0:0.6984:0.1384:0.1632	.	228;240;228;228;240;240	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	243;228;240;240;228;240;240;228;233;274	ENSP00000381564:G243C;ENSP00000381555:G228C;ENSP00000362762:G240C;ENSP00000362759:G240C;ENSP00000381550:G228C;ENSP00000257070:G240C;ENSP00000435397:G240C;ENSP00000381548:G228C;ENSP00000410921:G233C;ENSP00000437219:G274C	ENSP00000257070:G240C	G	-	1	0	0	BAI2	31994307	31994307	0.001000	0.12720	0.962000	0.40283	0.928000	0.56348	0.374000	0.20501	1.288000	0.44600	0.462000	0.41574	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1		2	2	2	0		0	0	63		63	60	1	2.060000	-2.966679	1	0.170000	NM_001703			23	21		322	316	0		1	0		0	0	63	0		9.999993e-01	2.635790e-02	0	0	0	4	0	23	322
SPOCD1	90853	broad.mit.edu	37	1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1044					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					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)		AGTATCTCTTCTCCACCTTAC	0.602																																						ENST00000360482.2	1.000000	0.600000	9.700000e-01	7.400000e-01	0.880000	0.864566	0.880000	0.990000																										0				37						c.(3130-3132)gaG>gaT		SPOC domain containing 1							24.0	25.0	25.0					1																	32256723		2203	4298	6501	SO:0001583	missense	90853	0	0					g.chr1:32256723C>A	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.3132G>T	chr1.hg19:g.32256723C>A	ENSP00000353670:p.Glu1044Asp	1					SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D|SPOCD1_ENST00000373648.2_3'UTR	p.E1044D	NM_144569.4	NP_653170.3	0	1	1	1.827221	Q6ZMY3	SPOC1_HUMAN		16	3261	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	1	1	hg19	c.3132G>T	CCDS347.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050524|3.050524	0.55218|0.55218	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.54866|.	0.56;1.01;0.55;1.37|.	4.88|4.88	1.9|1.9	0.25705|0.25705	4.88|4.88	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.356;0.137;0.243|.	B;B;B|.	0.36719|.	0.231;0.049;0.116|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.32370|0.87932	T|D	0.25|0	-15.6466|-15.6466	5.119|5.119	0.14851|0.14851	0.0:0.6375:0.1746:0.1879|0.0:0.6375:0.1746:0.1879	.|.	1031;467;1044|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	D|I	524;1044;467;1031|329	ENSP00000257100:E524D;ENSP00000353670:E1044D;ENSP00000399778:E467D;ENSP00000435851:E1031D|.	ENSP00000257100:E524D|ENSP00000294514:R329I	E|R	-|-	3|2	2|0	2|0	SPOCD1|SPOCD1	32029310|32029310	32029310|32029310	0.902000|0.902000	0.30710|0.30710	0.498000|0.498000	0.27564|0.27564	0.818000|0.818000	0.46254|0.46254	0.838000|0.838000	0.27572|0.27572	0.294000|0.294000	0.22547|0.22547	-0.175000|-0.175000	0.13238|0.13238	GAG|AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.999310	1	0.170000	NM_144569			15	14		118	117	1		1	0		0	0	35	0		9.998925e-01	4.200400e-01	0	0	0	12	0	15	118
SPOCD1	90853	broad.mit.edu	37	1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	888	SPOC.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					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)		CAGCTGTGTCCCGAGACCAGC	0.627																																						ENST00000360482.2	1.000000	0.660000	9.800000e-01	8.000000e-01	0.910000	0.899279	0.910000	0.990000																										0				37						c.(2662-2664)Gga>Aga		SPOC domain containing 1							27.0	26.0	26.0					1																	32258902		2200	4297	6497	SO:0001583	missense	90853	0	0					g.chr1:32258902C>T	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.2662G>A	chr1.hg19:g.32258902C>T	ENSP00000353670:p.Gly888Arg	1					SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R|SPOCD1_ENST00000373648.2_3'UTR	p.G888R	NM_144569.4	NP_653170.3	0	1	1	1.827221	Q6ZMY3	SPOC1_HUMAN		13	2791	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	0	1	hg19	c.2662G>A	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999365	0.93227	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.73897	-0.79;0.4;-0.75;0.37	5.73	5.73	0.89815	5.73	5.73	0.89815	Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	D	0.86669	0.5988	M	0.79926	2.475	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	0.87606	0.2500	9	0.87932	D	0	-17.4789	15.7793	0.78246	0.0:1.0:0.0:0.0	.	888;324;888	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	R	381;888;248;324;888	ENSP00000257100:G381R;ENSP00000353670:G888R;ENSP00000399778:G324R;ENSP00000435851:G888R	ENSP00000257100:G381R	G	-	1	0	0	SPOCD1	32031489	32031489	0.990000	0.36364	0.965000	0.40720	0.968000	0.65278	4.114000	0.57858	2.882000	0.98803	0.655000	0.94253	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1		2	2	2	0		0	0	10		10	8	1	2.060000	-19.999790	1	0.170000	NM_144569			13	13		61	60	1		1	0		0	0	10	0		9.996713e-01	5.053635e-01	0	0	0	9	0	13	61
SPOCD1	90853	broad.mit.edu	37	1	32262200	32262200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	754					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					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)		ccaccaGATCCTCCAGGGTCA	0.602																																						ENST00000360482.2	1.000000	0.780000	9.900000e-01	8.600000e-01	0.940000	0.932557	0.940000	0.990000																										0				37						c.(2260-2262)gaG>gaA		SPOC domain containing 1							162.0	126.0	138.0					1																	32262200		2203	4300	6503	SO:0001819	synonymous_variant	90853	0	0					g.chr1:32262200C>T	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.2262G>A	chr1.hg19:g.32262200C>T		1					SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000533231.1_Silent_p.E754E|SPOCD1_ENST00000373648.2_3'UTR	p.E754E	NM_144569.4	NP_653170.3	0	1	1	1.827221	Q6ZMY3	SPOC1_HUMAN		10	2391	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	1	1	hg19	c.2262G>A	CCDS347.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	0	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.841672	1	0.170000	NM_144569			50	50		416	409	1		1	0		0	0	87	0		1	5.298002e-01	0	0	0	16	0	50	416
SPOCD1	90853	broad.mit.edu	37	1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	384					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					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)		CAGGTGTCAGCGGGGGCAGCG	0.667																																						ENST00000360482.2	1.000000	0.600000	9.700000e-01	7.500000e-01	0.890000	0.871310	0.890000	0.990000																										0				37						c.(1150-1152)Gct>Act		SPOC domain containing 1							13.0	14.0	14.0					1																	32279785		2199	4299	6498	SO:0001583	missense	90853	2	121294	23				g.chr1:32279785C>T	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.1150G>A	chr1.hg19:g.32279785C>T	ENSP00000353670:p.Ala384Thr	1					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T	p.A384T	NM_144569.4	NP_653170.3	0	1	1	1.827221	Q6ZMY3	SPOC1_HUMAN		2	1279	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	0	1	hg19	c.1150G>A	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803308	0.16397	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32753	1.93;1.44;1.92	3.31	-6.63	0.01807	3.31	-6.63	0.01807	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.002	T	0.09314	-1.0680	9	0.25751	T	0.34	10.199	1.901	0.03267	0.4835:0.1905:0.0967:0.2293	.	384;384	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	384	ENSP00000353670:A384T;ENSP00000362752:A384T;ENSP00000435851:A384T	ENSP00000353670:A384T	A	-	1	0	0	SPOCD1	32052372	32052372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-3.978000	0.00085	-1.209000	0.01634	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.884500	1	0.170000	NM_144569			12	12		76	75	1		1			0	0	14	0		9.992960e-01	0	0	0	0	0	0	12	76
SPOCD1	90853	broad.mit.edu	37	1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	137					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					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)		AGCAGACCTGCTACAAAGTTT	0.607																																						ENST00000360482.2	1.000000	0.890000	1	9.400000e-01	0.970000	0.973895	0.970000	0.990000																										0				37						c.(409-411)aGc>aAc		SPOC domain containing 1							68.0	77.0	74.0					1																	32280525		2203	4299	6502	SO:0001583	missense	90853	0	0					g.chr1:32280525C>T	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.410G>A	chr1.hg19:g.32280525C>T	ENSP00000353670:p.Ser137Asn	1					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N	p.S137N	NM_144569.4	NP_653170.3	0	1	1	1.827221	Q6ZMY3	SPOC1_HUMAN		2	539	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	1	1	hg19	c.410G>A	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191639	0.38707	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.45668	1.19;0.89;1.19	3.57	1.71	0.24356	3.57	1.71	0.24356	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39217	0.294;0.154	T	0.07693	-1.0759	9	0.48119	T	0.1	-0.0017	5.8672	0.18781	0.0:0.7583:0.0:0.2417	.	137;137	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	137	ENSP00000353670:S137N;ENSP00000362752:S137N;ENSP00000435851:S137N	ENSP00000353670:S137N	S	-	2	0	0	SPOCD1	32053112	32053112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.869000	0.04232	0.515000	0.28320	-0.137000	0.14449	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1		2	2	2	0		0	0	152		152	149	1	2.060000	-20.000000	1	0.170000	NM_144569			86	84		561	550	1		1			0	0	152	0		1	0	0	0	0	0	0	86	561
TMEM39B	55116	broad.mit.edu	37	1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	420						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567																																						ENST00000336294.5	1.000000	0.910000	1	9.500000e-01	0.980000	0.980046	0.980000	0.990000																										0				11						c.(1258-1260)Cgg>Tgg		transmembrane protein 39B							103.0	102.0	102.0					1																	32568053		2203	4300	6503	SO:0001583	missense	55116	0	0					g.chr1:32568053C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1258C>T	chr1.hg19:g.32568053C>T	ENSP00000338165:p.Arg420Trp	1					TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	p.R420W	NM_018056.2	NP_060526.2	0	1	1	1.827221	Q9GZU3	TM39B_HUMAN		9	1404	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	1	1	hg19	c.1258C>T	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.75	2.62	0.31277	5.75	2.62	0.31277	.	0.054040	0.85682	D	0.000000	T	0.77301	0.4110	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77895	-0.2417	9	0.36615	T	0.2	-26.1014	16.0679	0.80897	0.4354:0.5646:0.0:0.0	.	420;293	Q9GZU3;Q9NW51	TM39B_HUMAN;.	W	420;221	.	ENSP00000338165:R420W	R	+	1	2	2	TMEM39B	32340640	32340640	0.791000	0.28800	1.000000	0.80357	0.987000	0.75469	0.322000	0.19576	0.851000	0.35264	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.233197	1	0.170000	NM_018056			80	80		406	393	1		1	1		0	0	98	0		1	9.999173e-01	0	14	0	57	0	80	406
KPNA6	23633	broad.mit.edu	37	1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	11	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				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)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448																																						ENST00000373625.3	0.970000	0.490000	8.900000e-01	6.100000e-01	0.750000	0.756241	0.750000	0.760000																										0				2						c.(31-33)aAt>aGt		karyopherin alpha 6 (importin alpha 7)		A	SER/ASN	0,4406		0,0,2203	77.0	74.0	75.0		32	4.4	1.0	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPNA6	NM_012316.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	11/537	32620216	1,13005	2203	4300	6503	SO:0001583	missense	23633	0	0					g.chr1:32620216A>G	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.32A>G	chr1.hg19:g.32620216A>G	ENSP00000362728:p.Asn11Ser	1					KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S	p.N11S	NM_012316.4	NP_036448.1	0	1	1	1.827221	O60684	IMA7_HUMAN		2	125	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	1	1	hg19	c.32A>G	CCDS352.1	0	.	.	.	.	.	.	.	.	.	.	a	17.36	3.370807	0.61624	0.0	1.16E-4	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.47869	0.83;0.83;0.83	5.5	4.37	0.52481	5.5	4.37	0.52481	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.45137	1.4	0.80722	D	1	B;B	0.32693	0.38;0.001	B;B	0.31946	0.138;0.009	T	0.18147	-1.0346	10	0.37606	T	0.19	-12.3149	11.4813	0.50326	0.9293:0.0:0.0707:0.0	.	16;11	F5GYL8;O60684	.;IMA7_HUMAN	S	11;8;16	ENSP00000362728:N11S;ENSP00000444930:N8S;ENSP00000440609:N16S	ENSP00000362728:N11S	N	+	2	0	0	KPNA6	32392803	32392803	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	1.030000	0.39839	0.533000	0.62120	AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-7.433515	1	0.170000	NM_012316			21	21		267	263	0		1	1		0	0	53	0		9.999976e-01	9.503035e-01	0	10	0	56	0	21	267
LCK	3932	broad.mit.edu	37	1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000336890.5	+	3	254	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000333070.4_Missense_Mutation_p.R39Q	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	39	Interactions with CD4 and CD8. {ECO:0000250}.				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)			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)	CTGCTCATCCGAAATGGCTCT	0.627			T	TRB@	T-ALL																																	ENST00000336890.5	1.000000	0.710000	9.800000e-01	8.200000e-01	0.920000	0.907786	0.920000	0.990000				Dom	yes			Dom	yes		1	1p35-p34.3	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase				L	L	TRB@		T-ALL		0				37						c.(115-117)cGa>cAa		LCK proto-oncogene, Src family tyrosine kinase	Dasatinib(DB01254)|Ponatinib(DB08901)						66.0	57.0	60.0					1																	32740348		2203	4300	6503	SO:0001583	missense	3932	0	0					g.chr1:32740348G>A	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.116G>A	chr1.hg19:g.32740348G>A	ENSP00000337825:p.Arg39Gln	1					LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000333070.4_Missense_Mutation_p.R39Q	p.R39Q	NM_005356.3	NP_005347.3	0	1	1	1.827221	P06239	LCK_HUMAN		3	254	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	1	1	hg19	c.116G>A	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106324	0.37145	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.173117	0.31370	N	0.007762	T	0.25269	0.0614	N	0.24115	0.695	0.25230	N	0.989837	B;B;B;P	0.42692	0.154;0.414;0.014;0.787	B;B;B;B	0.26693	0.006;0.057;0.008;0.072	T	0.22521	-1.0214	10	0.10111	T	0.7	.	14.8216	0.70077	0.0:0.0:1.0:0.0	.	83;39;39;39	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Q	39;39;39;39;39;83;83;39;83;39	ENSP00000337825:R39Q;ENSP00000431517:R39Q;ENSP00000435605:R39Q;ENSP00000434525:R39Q;ENSP00000362663:R39Q;ENSP00000436554:R83Q;ENSP00000362658:R83Q;ENSP00000328213:R39Q;ENSP00000362665:R39Q	ENSP00000328213:R39Q	R	+	2	0	0	LCK	32512935	32512935	0.983000	0.35010	0.663000	0.29738	0.639000	0.38242	3.079000	0.50104	2.597000	0.87782	0.555000	0.69702	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.075771	1	0.170000	NM_005356			30	30		245	236	1		1	0		0	0	58	0		1	8.734373e-01	0	0	0	32	0	30	245
BSDC1	55108	broad.mit.edu	37	1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000455895.2	-	9	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000341071.7_Missense_Mutation_p.P347L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	330										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637																																						ENST00000455895.2	1.000000	0.690000	9.700000e-01	7.900000e-01	0.880000	0.881525	0.880000	0.940000																										0				17						c.(988-990)cCc>cTc		BSD domain containing 1							71.0	71.0	71.0					1																	32842030		2203	4300	6503	SO:0001583	missense	55108	0	0					g.chr1:32842030G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.989C>T	chr1.hg19:g.32842030G>A	ENSP00000412173:p.Pro330Leu	1					BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000341071.7_Missense_Mutation_p.P347L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L	p.P330L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	0	1	1	1.827221	Q9NW68	BSDC1_HUMAN		9	1022	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	1	1	hg19	c.989C>T	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764088	0.15914	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	3.95	0.45737	4.87	3.95	0.45737	.	0.522233	0.22742	N	0.056182	T	0.56529	0.1991	L	0.54323	1.7	0.42041	D	0.991071	B;B;B;B;B	0.22003	0.035;0.004;0.02;0.063;0.005	B;B;B;B;B	0.19666	0.026;0.016;0.009;0.026;0.004	T	0.58787	-0.7575	9	0.62326	D	0.03	-7.0418	11.2939	0.49267	0.0866:0.0:0.9134:0.0	.	235;274;347;347;330	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	330;269;347;235;274;347;330	.	ENSP00000344816:P347L	P	-	2	0	0	BSDC1	32614617	32614617	0.989000	0.36119	0.908000	0.35775	0.112000	0.19704	4.329000	0.59260	1.372000	0.46190	0.462000	0.41574	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.318794	1	0.170000	NM_018045			50	47		516	506	1		1	1		0	0	110	0		1	9.999839e-01	0	34	0	132	0	50	516
ZBTB8A	653121	broad.mit.edu	37	1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	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)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418																																						ENST00000373510.4	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.930333	0.940000	0.990000																										0				7						c.(52-54)Cgc>Tgc		zinc finger and BTB domain containing 8A							65.0	60.0	62.0					1																	33058584		2203	4300	6503	SO:0001583	missense	653121	0	0					g.chr1:33058584C>T	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.52C>T	chr1.hg19:g.33058584C>T	ENSP00000362609:p.Arg18Cys	1					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	p.R18C	NM_001040441.1	NP_001035531.1	0	1	1	1.827221	Q96BR9	ZBT8A_HUMAN		3	281	+			Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	1	1	hg19	c.52C>T	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107142	0.77096	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.73152	-0.72;-0.72	5.32	5.32	0.75619	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	D	0.88217	0.6377	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90743	0.4651	10	0.87932	D	0	-12.0923	18.3637	0.90384	0.0:1.0:0.0:0.0	.	18;18	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	C	18	ENSP00000362609:R18C;ENSP00000317561:R18C	ENSP00000317561:R18C	R	+	1	0	0	ZBTB8A	32831171	32831171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.560000	0.67332	2.651000	0.90000	0.585000	0.79938	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_144621			26	26		157	155	1		1	1		0	0	38	0		9.999999e-01	9.059224e-01	0	3	0	24	0	26	157
KIAA1522	57648	broad.mit.edu	37	1	33233558	33233558	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000373480.1	+	2	332	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KIAA1522_ENST00000294521.3_Splice_Site_p.E77*|KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	77										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)				ACAACACCAAGGTAAGCTtcc	0.612																																						ENST00000373480.1	0.770000	0.330000	6.500000e-01	4.200000e-01	0.520000	0.541876	0.520000	0.520000																										0				24						c.(229-231)Gag>Tag		KIAA1522							60.0	66.0	64.0					1																	33233558		2005	4167	6172	SO:0001630	splice_region_variant	57648	0	0					g.chr1:33233558G>T	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.229+1G>T	chr1.hg19:g.33233558G>T		1					KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*|KIAA1522_ENST00000294521.3_Splice_Site_p.E77*	p.E77*	NM_001198972.1	NP_001185901.1	0	1	1	1.827221	Q9P206	K1522_HUMAN		2	332	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Splice_Site	SNP	ENST00000373480.1	0	1	hg19	c.229G>T	CCDS55588.1	0	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826624	0.71143	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	.	.	.	5.03	4.12	0.48240	5.03	4.12	0.48240	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3583	13.3902	0.60821	0.0776:0.0:0.9224:0.0	.	.	.	.	X	136;88;77;77	.	ENSP00000294521:E77X	E	+	1	0	0	KIAA1522	33006145	33006145	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.778000	0.91785	1.269000	0.44280	0.462000	0.41574	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	0	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-19.959200	1	0.170000		Nonsense_Mutation		20	20		385	380	0		1	1		0	0	97	0		9.999950e-01	9.977435e-01	0	3	0	185	0	20	385
KIAA1522	57648	broad.mit.edu	37	1	33235788	33235788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000373480.1	+	6	934	c.831G>A	c.(829-831)gaG>gaA	p.E277E	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.E336E|KIAA1522_ENST00000373481.3_Silent_p.E288E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	277										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)				GGCCTGCAGAGCCCCTGAGCC	0.652																																						ENST00000373480.1	1.000000	0.750000	9.800000e-01	8.400000e-01	0.930000	0.920858	0.930000	0.990000																										0				24						c.(829-831)gaG>gaA		KIAA1522							37.0	41.0	39.0					1																	33235788		2020	4157	6177	SO:0001819	synonymous_variant	57648	1	120674	30				g.chr1:33235788G>A	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.831G>A	chr1.hg19:g.33235788G>A		1					KIAA1522_ENST00000401073.2_Silent_p.E336E|KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000294521.3_Intron	p.E277E	NM_001198972.1	NP_001185901.1	0	1	1	1.827221	Q9P206	K1522_HUMAN		6	934	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	1	1	hg19	c.831G>A	CCDS55588.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000				47	47		412	405	0		1	1		0	0	78	0		1	9.999758e-01	0	38	0	99	0	47	412
KIAA1522	57648	broad.mit.edu	37	1	33236217	33236217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000373480.1	+	6	1363	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000373481.3_Silent_p.R431R	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	420	Ser-rich.									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)				TCAGCATTCGGAGCAGTGGGC	0.672																																						ENST00000373480.1	0.990000	0.540000	9.600000e-01	6.900000e-01	0.840000	0.829915	0.840000	0.990000																										0				24						c.(1258-1260)cgG>cgA		KIAA1522							31.0	36.0	34.0					1																	33236217		2065	4199	6264	SO:0001819	synonymous_variant	57648	0	0					g.chr1:33236217G>A	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.1260G>A	chr1.hg19:g.33236217G>A		1					KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000294521.3_Intron	p.R420R	NM_001198972.1	NP_001185901.1	0	1	1	1.827221	Q9P206	K1522_HUMAN		6	1363	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	1	1	hg19	c.1260G>A	CCDS55588.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-19.883780	1	0.170000				14	13		130	127	1		1	1		0	0	32	0		9.997609e-01	9.999228e-01	0	38	0	125	0	14	130
TMEM54	113452	broad.mit.edu	37	1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T	rs527445029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R|TMEM54_ENST00000475208.1_5'Flank	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	216						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627																																						ENST00000373463.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.984707	0.980000	0.990000																										0				6						c.(646-648)agC>agA		transmembrane protein 54							69.0	67.0	68.0					1																	33360427		2203	4300	6503	SO:0001583	missense	113452	0	0					g.chr1:33360427G>T		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.648C>A	chr1.hg19:g.33360427G>T	ENSP00000362562:p.Ser216Arg	1					TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R|TMEM54_ENST00000475208.1_5'Flank	p.S216R	NM_033504.2	NP_277039.1	0	1	1	1.827221	Q969K7	TMM54_HUMAN		6	767	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	1	0	hg19	c.648C>A	CCDS371.1	1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693879	0.30052	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.49139	0.79	4.83	0.694	0.18062	4.83	0.694	0.18062	.	0.992833	0.08193	N	0.983470	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	D;B;D	0.76494	0.999;0.001;0.998	D;B;D	0.83275	0.996;0.002;0.991	T	0.34054	-0.9844	10	0.02654	T	1	.	4.139	0.10184	0.2911:0.1732:0.5357:0.0	.	196;163;216	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	R	216;163	ENSP00000362562:S216R	ENSP00000328630:S163R	S	-	3	2	2	TMEM54	33133014	33133014	0.000000	0.05858	0.010000	0.14722	0.208000	0.24298	0.445000	0.21677	0.188000	0.20168	-0.142000	0.14014	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.605546	1	0.170000	NM_033504			82	80		318	312	1		1	1		0	0	90	0		1	1	0	198	0	212	0	82	318
RNF19B	127544	broad.mit.edu	37	1	33407890	33407890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33407890C>A	ENST00000373456.7	-	7	1575	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C|RNF19B_ENST00000356990.5_Missense_Mutation_p.G525C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	526					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAATGCCGCCACTCAGCGTG	0.458																																						ENST00000373456.7	0.330000	0.090000	2.600000e-01	1.300000e-01	0.180000	0.200093	0.180000	0.180000																										0				13						c.(1576-1578)Ggc>Tgc		ring finger protein 19B							95.0	93.0	94.0					1																	33407890		2203	4300	6503	SO:0001583	missense	127544	0	0					g.chr1:33407890C>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1576G>T	chr1.hg19:g.33407890C>A	ENSP00000362555:p.Gly526Cys	1					RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C|RNF19B_ENST00000356990.5_Missense_Mutation_p.G525C	p.G526C	NM_153341.2	NP_699172.2	0	1	1	1.827221	Q6ZMZ0	RN19B_HUMAN		7	1575	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	0	1	hg19	c.1576G>T	CCDS372.2	0	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076134	0.55646	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.53640	0.61;0.82;0.62	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.67869	0.2939	M	0.64170	1.965	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.962;0.976	T	0.70160	-0.4948	10	0.66056	D	0.02	.	18.9322	0.92571	0.0:1.0:0.0:0.0	.	525;526;525	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	C	526;525;525;424	ENSP00000362555:G526C;ENSP00000349482:G525C;ENSP00000235150:G525C	ENSP00000235150:G525C	G	-	1	0	0	RNF19B	33180477	33180477	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	2.780000	0.47742	2.538000	0.85594	0.655000	0.94253	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	0	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-3.037809	1	0.170000	NM_153341			9	9		517	508	0		1	1		0	0	105	0		9.938238e-01	8.773270e-01	0	7	0	210	0	9	517
RNF19B	127544	broad.mit.edu	37	1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000373456.7	-	4	1093	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D|RNF19B_ENST00000356990.5_Missense_Mutation_p.A364D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	365					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473																																						ENST00000373456.7	1.000000	0.840000	1	9.100000e-01	0.960000	0.960230	0.960000	0.990000																										0				13						c.(1093-1095)gCt>gAt		ring finger protein 19B							95.0	77.0	83.0					1																	33412058		2203	4300	6503	SO:0001583	missense	127544	0	0					g.chr1:33412058G>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1094C>A	chr1.hg19:g.33412058G>T	ENSP00000362555:p.Ala365Asp	1					RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D|RNF19B_ENST00000356990.5_Missense_Mutation_p.A364D	p.A365D	NM_153341.2	NP_699172.2	0	1	1	1.827221	Q6ZMZ0	RN19B_HUMAN		4	1093	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	1	1	hg19	c.1094C>A	CCDS372.2	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517053	0.85495	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.39056	1.1;1.18;1.11	5.5	4.58	0.56647	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.125;1.0	D;B;D	0.91635	0.999;0.028;0.999	T	0.73560	-0.3944	10	0.87932	D	0	.	16.1114	0.81266	0.0:0.0:0.8652:0.1348	.	364;365;364	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	365;364;364;263	ENSP00000362555:A365D;ENSP00000349482:A364D;ENSP00000235150:A364D	ENSP00000235150:A364D	A	-	2	0	0	RNF19B	33184645	33184645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.781000	0.99029	1.456000	0.47831	0.563000	0.77884	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-19.994370	1	0.170000	NM_153341			33	32		126	124	1		1	1		0	0	32	0		1	1	0	57	0	116	0	33	126
AK2	204	broad.mit.edu	37	1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000487289.1	-	3	323	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423																																						ENST00000487289.1	1.000000	0.900000	1	9.400000e-01	0.970000	0.976454	0.970000	0.990000																										0				8						c.(307-309)cGg>cAg		adenylate kinase 2							47.0	49.0	48.0					1																	33487216		2203	4300	6503	SO:0001583	missense	204	2	121412	34				g.chr1:33487216C>T	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.308G>A	chr1.hg19:g.33487216C>T	ENSP00000446849:p.Arg103Gln	1					RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q	p.R103Q			0	1	1	1.827221				3	323	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)		Missense_Mutation	SNP	ENST00000487289.1	1	1	hg19	c.308G>A		1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676763	0.88445	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	H	0.99967	5.1	0.80722	D	1	B;B;B;B	0.34255	0.15;0.018;0.445;0.15	B;B;B;B	0.40009	0.084;0.01;0.316;0.084	D	0.95841	0.8866	10	0.72032	D	0.01	-11.1021	20.1745	0.98175	0.0:1.0:0.0:0.0	.	103;61;103;103	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	103;61;103;103;103;103;103	ENSP00000362548:R103Q;ENSP00000449003:R61Q;ENSP00000447082:R103Q;ENSP00000450109:R103Q;ENSP00000346921:R103Q;ENSP00000446849:R103Q	ENSP00000346921:R103Q	R	-	2	0	0	AK2	33259803	33259803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.941000	0.99782	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	0	0	1		2	2	2	0		0	0	50		50	51	1	2.060000	-3.180505	1	0.170000	NM_001625			57	53		230	223	1		1	1		0	0	50	0		1	1	0	102	0	151	0	57	230
TRIM62	55223	broad.mit.edu	37	1	33625357	33625357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	ENST00000291416.5	-	3	926	c.693C>T	c.(691-693)atC>atT	p.I231I	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.I110I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	231					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GCTCCTGCAGGATCTGGGCTC	0.692																																						ENST00000291416.5	0.510000	0.160000	4.100000e-01	2.200000e-01	0.300000	0.322099	0.300000	0.300000																										0				15						c.(691-693)atC>atT		tripartite motif containing 62							50.0	52.0	51.0					1																	33625357		2203	4300	6503	SO:0001819	synonymous_variant	55223	0	0					g.chr1:33625357G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.693C>T	chr1.hg19:g.33625357G>A		1					TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	p.I231I	NM_018207.2	NP_060677.2	0	1	1	1.827221	Q9BVG3	TRI62_HUMAN		3	926	-		Myeloproliferative disorder(586;0.0393)	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	1	1	hg19	c.693C>T	CCDS376.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-10.805780	1	0.170000	NM_018207			11	11		378	374	0		1	0		0	0	76	0		9.982916e-01	1.918275e-01	0	1	0	25	0	11	378
PHC2	1912	broad.mit.edu	37	1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|RP11-415J8.3_ENST00000457957.2_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	752					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)			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)				GGCTGAGATGGGTGACAAGGG	0.587																																						ENST00000257118.5	1.000000	0.680000	9.600000e-01	7.800000e-01	0.880000	0.876129	0.880000	0.930000																										0				31						c.(2254-2256)cCc>cAc		polyhomeotic homolog 2 (Drosophila)							107.0	98.0	101.0					1																	33794638		2203	4300	6503	SO:0001583	missense	1912	0	0					g.chr1:33794638G>T	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.2255C>A	chr1.hg19:g.33794638G>T	ENSP00000257118:p.Pro752His	1					RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H	p.P752H	NM_198040.2	NP_932157.1	0	1	1	1.827221	Q8IXK0	PHC2_HUMAN		13	2308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	1	1	hg19	c.2255C>A	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852429	0.91355	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.55413	1.52;1.07;0.52;1.5	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;D	0.66497	0.816;0.816;0.816;0.944	T	0.69525	-0.5122	10	0.66056	D	0.02	-19.8649	17.6713	0.88218	0.0:0.0:1.0:0.0	.	753;724;752;167	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	723;752;358;217;329;753;217	ENSP00000389436:P723H;ENSP00000257118:P752H;ENSP00000362521:P358H;ENSP00000391440:P753H	ENSP00000257118:P752H	P	-	2	0	0	PHC2	33567225	33567225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.128000	0.94424	2.771000	0.95319	0.561000	0.74099	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.075755	1	0.170000	NM_198040			45	44		465	455	1		1	1		0	0	113	0		1	1	0	90	0	722	0	45	465
PHC2	1912	broad.mit.edu	37	1	33797020	33797020	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373418.3_Silent_p.L109L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					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)			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)				CCCGGCCACAGAGCTCACACT	0.527																																						ENST00000257118.5	1.000000	0.760000	9.800000e-01	8.500000e-01	0.920000	0.921289	0.920000	0.990000																										0				31						c.(1930-1932)ctC>ctA		polyhomeotic homolog 2 (Drosophila)							126.0	137.0	133.0					1																	33797020		2203	4300	6503	SO:0001819	synonymous_variant	1912	0	0					g.chr1:33797020G>T	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.1932C>A	chr1.hg19:g.33797020G>T		1					MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L	p.L644L	NM_198040.2	NP_932157.1	0	1	1	1.827221	Q8IXK0	PHC2_HUMAN		11	1985	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	1	1	hg19	c.1932C>A	CCDS378.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	1	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-17.667100	1	0.170000	NM_198040			62	61		578	561	1		1	1		0	0	156	0		1	1	0	52	0	506	0	62	578
ZSCAN20	7579	broad.mit.edu	37	1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	926					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)			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)				CGCACCCACACTGGAGAGAAG	0.527																																						ENST00000361328.3	1.000000	0.740000	9.800000e-01	8.400000e-01	0.920000	0.916855	0.920000	0.990000																										0				31						c.(2776-2778)aCt>aTt		zinc finger and SCAN domain containing 20							65.0	77.0	73.0					1																	33960721		2143	4275	6418	SO:0001583	missense	7579	0	0					g.chr1:33960721C>T	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.2777C>T	chr1.hg19:g.33960721C>T	ENSP00000355053:p.Thr926Ile	1						p.T926I	NM_145238.3	NP_660281	0	1	1	1.827221	P17040	ZSC20_HUMAN		8	2930	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	1	1	hg19	c.2777C>T	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242495	0.79912	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196572	0.36066	N	0.002802	T	0.79604	0.4474	M	0.75777	2.31	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81172	-0.1054	9	0.72032	D	0.01	-16.54	17.2441	0.87022	0.0:1.0:0.0:0.0	.	925;926	P17040-3;P17040	.;ZSC20_HUMAN	I	926;860;860	.	ENSP00000324450:T926I	T	+	2	0	0	ZSCAN20	33733308	33733308	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.085000	0.71343	2.648000	0.89879	0.655000	0.94253	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	1	0	1		2	2	2	0		0	0	95		95	91	1	2.060000	-20.000000	1	0.170000	NM_145238			44	44		387	378	1		1	1		0	0	95	0		1	3.191662e-01	0	2	0	9	0	44	387
ZSCAN20	7579	broad.mit.edu	37	1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	960					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)			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)				AAGCCCTACAAATGCCTTGAG	0.502																																						ENST00000361328.3	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.899049	0.910000	0.990000																										0				31						c.(2878-2880)aAa>aCa		zinc finger and SCAN domain containing 20							85.0	99.0	94.0					1																	33960823		2161	4277	6438	SO:0001583	missense	7579	0	0					g.chr1:33960823A>C	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.2879A>C	chr1.hg19:g.33960823A>C	ENSP00000355053:p.Lys960Thr	1						p.K960T	NM_145238.3	NP_660281	0	1	1	1.827221	P17040	ZSC20_HUMAN		8	3032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	1	1	hg19	c.2879A>C	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973625	0.34848	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.06	0.26882	5.66	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184247	0.38058	N	0.001840	T	0.29061	0.0722	L	0.35593	1.075	0.09310	N	1	B;B	0.30193	0.178;0.272	B;B	0.33339	0.062;0.162	T	0.22243	-1.0222	9	0.72032	D	0.01	-3.6351	4.805	0.13316	0.6102:0.1497:0.24:0.0	.	959;960	P17040-3;P17040	.;ZSC20_HUMAN	T	960;894;894	.	ENSP00000324450:K960T	K	+	2	0	0	ZSCAN20	33733410	33733410	0.000000	0.05858	0.960000	0.40013	0.986000	0.74619	-0.041000	0.12084	0.092000	0.17331	0.533000	0.62120	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_145238			33	33		293	286	1		1	0		0	0	69	0		1	2.386721e-01	0	1	0	8	0	33	293
CSMD2	114784	broad.mit.edu	37	1	34123589	34123589	+	Silent	SNP	G	G	A	rs146442508	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34123589G>A	ENST00000373380.1	-	6	1243	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.I1468I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1428	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTGTTCTCGATCTTCACAC	0.592																																						ENST00000373380.1	1.000000	0.930000	1	9.600000e-01	0.980000	0.987435	0.980000	0.990000																										0				246						c.(1021-1023)atC>atT		CUB and Sushi multiple domains 2							124.0	115.0	118.0					1																	34123589		2203	4300	6503	SO:0001819	synonymous_variant	114784	0	0					g.chr1:34123589G>A	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.1023C>T	chr1.hg19:g.34123589G>A		1					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.I1468I	p.I341I			0	1	1	1.827221	Q7Z408	CSMD2_HUMAN		6	1243	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	1	0	hg19	c.1023C>T		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.884438	1	0.170000	NM_052896			95	94		356	350	1		1	0		0	0	114	0		1	2.000030e-01	0	0	0	4	0	95	356
C1orf94	84970	broad.mit.edu	37	1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	324										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)				TGTTCCAAGCCCAAGGCTGAC	0.617																																						ENST00000488417.1	0.990000	0.490000	9.300000e-01	6.400000e-01	0.790000	0.785267	0.790000	0.830000																										0				32						c.(970-972)cCc>cTc		chromosome 1 open reading frame 94							48.0	45.0	46.0					1																	34663476		2203	4300	6503	SO:0001583	missense	84970	0	0					g.chr1:34663476C>T	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.971C>T	chr1.hg19:g.34663476C>T	ENSP00000435634:p.Pro324Leu	1					C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	p.P324L	NM_001134734.1	NP_001128206.1	0	1	1	1.827221	Q6P1W5	CA094_HUMAN		2	1091	+		Myeloproliferative disorder(586;0.0393)	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	1	1	hg19	c.971C>T	CCDS44108.1	0	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.28454	1.61;1.61	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.347910	0.24947	N	0.034333	T	0.31231	0.0790	L	0.52573	1.65	0.40830	D	0.983584	P	0.36909	0.573	B	0.37780	0.258	T	0.20874	-1.0262	10	0.59425	D	0.04	-9.4525	13.2926	0.60278	0.0:1.0:0.0:0.0	.	324	Q6P1W5	CA094_HUMAN	L	134;324	ENSP00000362472:P134L;ENSP00000435634:P324L	ENSP00000362472:P134L	P	+	2	0	0	C1orf94	34436063	34436063	0.037000	0.19845	0.941000	0.38009	0.684000	0.39900	1.286000	0.33273	2.194000	0.70268	0.557000	0.71058	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-19.978980	1	0.170000	NM_032884			16	15		182	181	0		1	0		0	0	59	0		9.999402e-01	4.015546e-02	0	0	0	4	0	16	182
C1orf94	84970	broad.mit.edu	37	1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	395										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)				GAAGAACTTGCTCTATGAGTT	0.577																																						ENST00000488417.1	1.000000	0.850000	1	9.200000e-01	0.960000	0.963015	0.960000	0.990000																										0				32						c.(1183-1185)Ctc>Atc		chromosome 1 open reading frame 94							50.0	50.0	50.0					1																	34666546		2203	4300	6503	SO:0001583	missense	84970	0	0					g.chr1:34666546C>A	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.1183C>A	chr1.hg19:g.34666546C>A	ENSP00000435634:p.Leu395Ile	1					C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	p.L395I	NM_001134734.1	NP_001128206.1	0	1	1	1.827221	Q6P1W5	CA094_HUMAN		3	1303	+		Myeloproliferative disorder(586;0.0393)	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	1	1	hg19	c.1183C>A	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833400	0.32421	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36157	1.27;1.27	5.73	3.63	0.41609	5.73	3.63	0.41609	.	0.266792	0.26776	N	0.022549	T	0.38746	0.1052	L	0.58101	1.795	0.29571	N	0.84988	P	0.45957	0.869	P	0.47645	0.553	T	0.34850	-0.9812	10	0.51188	T	0.08	-15.6548	7.4085	0.27004	0.0:0.7679:0.0:0.2321	.	395	Q6P1W5	CA094_HUMAN	I	205;395	ENSP00000362472:L205I;ENSP00000435634:L395I	ENSP00000362472:L205I	L	+	1	0	0	C1orf94	34439133	34439133	0.996000	0.38824	0.999000	0.59377	0.134000	0.20937	0.660000	0.25009	0.583000	0.29574	0.655000	0.94253	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_032884			37	35		151	148	1		1	0		0	0	36	0		1	2.637653e-01	0	0	0	5	0	37	151
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	T	rs200331025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20970	0.0		0.0	False		,,,				2504	0.0					ENST00000338513.1	1.000000	0.910000	1	9.500000e-01	0.980000	0.980346	0.980000	0.990000																										0				10						c.(604-606)ctC>ctT		gap junction protein, beta 5, 31.1kDa							120.0	100.0	107.0					1																	35223537		2203	4300	6503	SO:0001819	synonymous_variant	2709	32	121412	46				g.chr1:35223537C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.606C>T	chr1.hg19:g.35223537C>T		1					GJB4_ENST00000339480.1_5'Flank	p.L202L	NM_005268.3	NP_005259.1	0	1	1	1.827221	O95377	CXB5_HUMAN		2	779	+		Myeloproliferative disorder(586;0.0393)	Q9UPA3	Silent	SNP	ENST00000338513.1	1	1	hg19	c.606C>T	CCDS382.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-3.466956	1	0.170000	NM_005268			64	63		238	230	1		1	1		0	0	68	0		1	9.602200e-01	0	18	0	4	0	64	238
GJA4	2701	broad.mit.edu	37	1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	303					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602																																						ENST00000342280.4	0.990000	0.520000	9.500000e-01	6.700000e-01	0.830000	0.818197	0.830000	0.960000																										0				14						c.(907-909)tCc>tTc		gap junction protein, alpha 4, 37kDa							45.0	42.0	43.0					1																	35260722		2203	4300	6503	SO:0001583	missense	2701	0	0					g.chr1:35260722C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.908C>T	chr1.hg19:g.35260722C>T	ENSP00000343676:p.Ser303Phe	1						p.S303F	NM_002060.2	NP_002051.2	0	1	1	1.827221	P35212	CXA4_HUMAN		2	996	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	1	1	hg19	c.908C>T	CCDS30669.1	0	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657035	0.47467	.	.	ENSG00000187513	ENST00000342280	D	0.97553	-4.43	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.854734	0.10311	N	0.689936	D	0.96244	0.8775	L	0.44542	1.39	0.37490	D	0.916369	B	0.28512	0.214	B	0.34873	0.191	D	0.93004	0.6426	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	303	P35212	CXA4_HUMAN	F	303	ENSP00000343676:S303F	ENSP00000343676:S303F	S	+	2	0	0	GJA4	35033309	35033309	0.046000	0.20272	0.668000	0.29813	0.691000	0.40173	1.444000	0.35068	2.579000	0.87056	0.561000	0.74099	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-3.143002	1	0.170000	NM_002060			13	13		124	119	0		1	0		0	0	37	0		9.995139e-01	5.683219e-01	0	0	0	19	0	13	124
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			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)				GCCCATTATAGTCCCGCTTCC	0.647																																						ENST00000373347.1	0.990000	0.610000	9.600000e-01	7.300000e-01	0.850000	0.849860	0.850000	0.930000																										0				46						c.(580-582)gaC>gaA		discs, large (Drosophila) homolog-associated protein 3							26.0	28.0	27.0					1																	35370403		2203	4297	6500	SO:0001583	missense	58512	0	0					g.chr1:35370403G>T	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.582C>A	chr1.hg19:g.35370403G>T	ENSP00000362444:p.Asp194Glu	1					DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E|DLGAP3_ENST00000495979.1_5'Flank	p.D194E			0	1	1	1.827221	O95886	DLGP3_HUMAN		3	850	-		Myeloproliferative disorder(586;0.0393)	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	1	1	hg19	c.582C>A	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	5.093	0.202863	0.09704	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.23552	1.9;1.9	4.47	2.29	0.28610	4.47	2.29	0.28610	.	0.126216	0.53938	D	0.000043	T	0.11793	0.0287	N	0.11927	0.2	0.31210	N	0.698711	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	10	0.23891	T	0.37	-12.827	6.8141	0.23820	0.1842:0.3212:0.4945:0.0	.	194	O95886	DLGP3_HUMAN	E	194	ENSP00000362444:D194E;ENSP00000235180:D194E	ENSP00000235180:D194E	D	-	3	2	2	DLGAP3	35142990	35142990	0.948000	0.32251	1.000000	0.80357	0.957000	0.61999	0.087000	0.14958	0.959000	0.37980	0.448000	0.29417	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_021234			27	26		278	278	0		1	0		0	0	53	0		1	0	0	0	0	1	0	27	278
ZMYM1	79830	broad.mit.edu	37	1	35578670	35578670	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35578670T>C	ENST00000373330.1	+	11	1413	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.S413S			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	413	Ser-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			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)				CAGTATTCAGTCAGCATGCAA	0.388																																						ENST00000373330.1	1.000000	0.650000	9.800000e-01	7.800000e-01	0.900000	0.884816	0.900000	0.990000																										0				31						c.(1237-1239)agT>agC		zinc finger, MYM-type 1							66.0	63.0	64.0					1																	35578670		1907	4135	6042	SO:0001819	synonymous_variant	79830	0	0					g.chr1:35578670T>C	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.1239T>C	chr1.hg19:g.35578670T>C		1					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.S413S	p.S413S			0	1	1	1.827221	Q5SVZ6	ZMYM1_HUMAN		11	1413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	0	1	hg19	c.1239T>C	CCDS41302.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	0	0	1		15	4	2	1		1	1	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_024772			21	21		171	167	0		1	0		1	0	41	0		8.737197e-01	3.929128e-01	0	3	0	24	0	21	171
ZMYM1	79830	broad.mit.edu	37	1	35580389	35580389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F986F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	986						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			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)				TTTCGGAGTTTGATTATTGCA	0.244																																						ENST00000373330.1	0.990000	0.460000	9.400000e-01	6.200000e-01	0.790000	0.785314	0.790000	0.890000																										0				31						c.(2956-2958)ttT>ttC		zinc finger, MYM-type 1							22.0	21.0	22.0					1																	35580389		1790	4044	5834	SO:0001819	synonymous_variant	79830	0	0					g.chr1:35580389T>C	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.2958T>C	chr1.hg19:g.35580389T>C		1					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F986F	p.F986F			0	1	1	1.827221	Q5SVZ6	ZMYM1_HUMAN		11	3132	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	1	1	hg19	c.2958T>C	CCDS41302.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.244	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-16.838770	1	0.170000	NM_024772			11	11		114	108	1		1	0		0	0	26	0		9.981311e-01	2.092724e-01	0	1	0	8	0	11	114
ZMYM4	9202	broad.mit.edu	37	1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1282					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)			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)				ACTTTTGCTGAGTTGAGTTTG	0.398																																						ENST00000314607.6	1.000000	0.750000	9.800000e-01	8.300000e-01	0.910000	0.912259	0.910000	0.990000																										0				54						c.(3844-3846)gAg>gGg		zinc finger, MYM-type 4							194.0	178.0	183.0					1																	35873657		2203	4300	6503	SO:0001583	missense	9202	0	0					g.chr1:35873657A>G	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.3845A>G	chr1.hg19:g.35873657A>G	ENSP00000322915:p.Glu1282Gly	1					ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	p.E1282G	NM_005095.2	NP_005086.2	0	1	1	1.827221	Q5VZL5	ZMYM4_HUMAN		26	3925	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	1	1	hg19	c.3845A>G	CCDS389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.261489|5.261489	0.95368|0.95368	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.32023|.	1.47;1.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.49752|.	0.621|.	T|.	0.77205|.	-0.2673|.	10|.	0.87932|.	D|.	0|.	-13.7096|-13.7096	16.1199|16.1199	0.81342|0.81342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1282|.	Q5VZL5|.	ZMYM4_HUMAN|.	G|W	1282;1193|940	ENSP00000322915:E1282G;ENSP00000362394:E1193G|.	ENSP00000322915:E1282G|.	E|X	+|+	2|3	0|0	0|0	ZMYM4|ZMYM4	35646244|35646244	35646244|35646244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.904000|8.904000	0.92590|0.92590	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAG|TGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	1	0	1		2	2	2	0		0	0	153		153	151	1	2.060000	-17.674210	1	0.170000	NM_005095			63	61		610	601	0		1	1		0	0	153	0		1	9.697745e-01	0	3	0	53	0	63	610
KIAA0319L	79932	broad.mit.edu	37	1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1004						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542																																						ENST00000325722.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.979261	0.980000	0.990000																										0				34						c.(3010-3012)gaG>gaT		KIAA0319-like							100.0	88.0	92.0					1																	35900633		2203	4300	6503	SO:0001583	missense	79932	0	0					g.chr1:35900633C>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3012G>T	chr1.hg19:g.35900633C>A	ENSP00000318406:p.Glu1004Asp	1					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	p.E1004D	NM_024874.4	NP_079150.3	0	1	1	1.827221	Q8IZA0	K319L_HUMAN		21	3246	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	1	1	hg19	c.3012G>T	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313141	0.40895	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.01;2.83;2.92	4.94	0.794	0.18638	4.94	0.794	0.18638	.	0.047201	0.85682	D	0.000000	T	0.08447	0.0210	L	0.40543	1.245	0.80722	D	1	B;B	0.27765	0.188;0.018	B;B	0.24974	0.057;0.013	T	0.22243	-1.0222	10	0.42905	T	0.14	-16.1955	8.7575	0.34654	0.0:0.617:0.0:0.383	.	1004;446	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	D	1004;441;1004	ENSP00000318406:E1004D;ENSP00000362363:E441D;ENSP00000395883:E1004D	ENSP00000318406:E1004D	E	-	3	2	2	KIAA0319L	35673220	35673220	1.000000	0.71417	0.874000	0.34290	0.972000	0.66771	0.998000	0.29744	0.132000	0.18615	0.563000	0.77884	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_024874			60	61		217	215	1		1	1		0	0	65	0		1	1	0	46	0	116	0	60	217
NCDN	23154	broad.mit.edu	37	1	36026194	36026194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	ENST00000373243.2	+	3	825	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	148					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATGCTGCCCGCCGCTCCAT	0.627																																						ENST00000373243.2	0.510000	0.270000	4.500000e-01	3.200000e-01	0.380000	0.392619	0.380000	0.380000																										0				16						c.(442-444)Cgc>Tgc		neurochondrin							87.0	92.0	90.0					1																	36026194		2203	4300	6503	SO:0001583	missense	23154	0	0					g.chr1:36026194C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.442C>T	chr1.hg19:g.36026194C>T	ENSP00000362340:p.Arg148Cys	1					NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C|NCDN_ENST00000356090.4_Missense_Mutation_p.R148C	p.R148C	NM_014284.2	NP_055099.1	0	1	1	1.827221	Q9UBB6	NCDN_HUMAN		3	825	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	1	1	hg19	c.442C>T	CCDS392.1	0	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414922	0.42817	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.75821	-0.97;-0.97;-0.97	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.380726	0.28312	N	0.015812	T	0.54351	0.1853	N	0.08118	0	0.47245	D	0.99936	B	0.14012	0.009	B	0.09377	0.004	T	0.51942	-0.8641	10	0.35671	T	0.21	.	11.809	0.52171	0.0:0.9201:0.0:0.0799	.	148	Q9UBB6	NCDN_HUMAN	C	131;148;148;131	ENSP00000362350:R131C;ENSP00000348394:R148C;ENSP00000362340:R148C	ENSP00000348394:R148C	R	+	1	0	0	NCDN	35798781	35798781	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.985000	0.29578	2.586000	0.87340	0.561000	0.74099	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	0	0	1		2	2	2	0		0	0	156		156	152	1	2.060000	-2.593211	1	0.170000	NM_014284			37	36		993	947	0		1	1		0	0	156	0		1	8.939442e-01	0	7	0	99	0	37	993
NCDN	23154	broad.mit.edu	37	1	36028103	36028103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	418					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632																																						ENST00000373243.2	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.916332	0.920000	0.990000																										0				16						c.(1252-1254)ctG>ctA		neurochondrin							138.0	114.0	122.0					1																	36028103		2203	4300	6503	SO:0001819	synonymous_variant	23154	0	0					g.chr1:36028103G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1254G>A	chr1.hg19:g.36028103G>A		1					NCDN_ENST00000373253.3_Silent_p.L401L|NCDN_ENST00000356090.4_Silent_p.L418L	p.L418L	NM_014284.2	NP_055099.1	0	1	1	1.827221	Q9UBB6	NCDN_HUMAN		4	1637	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	1	1	hg19	c.1254G>A	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284619	0.23392	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.8	3.89	0.44902	4.8	3.89	0.44902	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	4	.	.	.	.	10.1781	0.42950	0.0909:0.0:0.9091:0.0	.	.	.	.	Y	12	.	.	C	+	2	0	0	NCDN	35800690	35800690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	1.257000	0.44085	0.561000	0.74099	TGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-13.124500	1	0.170000	NM_014284			29	28		219	214	1		1	1		0	0	38	0		1	9.997573e-01	0	20	0	80	0	29	219
NCDN	23154	broad.mit.edu	37	1	36029470	36029470	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	571					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582																																						ENST00000373243.2	1.000000	0.660000	9.700000e-01	7.800000e-01	0.890000	0.879138	0.890000	0.990000																										0				16						c.(1711-1713)acC>acT		neurochondrin							69.0	66.0	67.0					1																	36029470		2203	4300	6503	SO:0001819	synonymous_variant	23154	0	0					g.chr1:36029470C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1713C>T	chr1.hg19:g.36029470C>T		1					NCDN_ENST00000373253.3_Silent_p.T554T|NCDN_ENST00000356090.4_Silent_p.T571T	p.T571T	NM_014284.2	NP_055099.1	0	1	1	1.827221	Q9UBB6	NCDN_HUMAN		6	2096	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	1	1	hg19	c.1713C>T	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838179	0.16891	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	1.49	0.22878	4.55	1.49	0.22878	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	4.447	0.11602	0.148:0.4988:0.0:0.3531	.	.	.	.	L	165	.	.	P	+	2	0	0	NCDN	35802057	35802057	0.701000	0.27806	1.000000	0.80357	0.977000	0.68977	-0.339000	0.07832	0.336000	0.23639	0.462000	0.41574	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_014284			31	30		296	291	1		1	1		0	0	59	0		1	9.980816e-01	0	18	0	76	0	31	296
TFAP2E	339488	broad.mit.edu	37	1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597																																						ENST00000373235.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.979122	0.980000	0.990000																										0				2						c.(565-567)Ccc>Tcc		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							76.0	63.0	68.0					1																	36053933		2203	4300	6503	SO:0001583	missense	339488	0	0					g.chr1:36053933C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.565C>T	chr1.hg19:g.36053933C>T	ENSP00000362332:p.Pro189Ser	1						p.P189S	NM_178548.3	NP_848643.2	0	1	1	1.827221				4	773	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)		Missense_Mutation	SNP	ENST00000373235.3	1	1	hg19	c.565C>T	CCDS393.2	1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891777	0.52014	.	.	ENSG00000116819	ENST00000373235	D	0.97575	-4.44	5.68	4.76	0.60689	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.75085	2.285	0.80722	D	1	P	0.38535	0.635	B	0.35073	0.195	D	0.96075	0.9049	10	0.59425	D	0.04	-25.056	15.0334	0.71725	0.0:0.9305:0.0:0.0695	.	189	Q6VUC0	AP2E_HUMAN	S	189	ENSP00000362332:P189S	ENSP00000362332:P189S	P	+	1	0	0	TFAP2E	35826520	35826520	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.763000	0.68818	2.683000	0.91414	0.313000	0.20887	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	0	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_178548			64	63		260	255	1		1	0		0	0	54	0		1	4.024315e-02	0	0	0	2	0	64	260
CLSPN	63967	broad.mit.edu	37	1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000318121.3	-	18	3145	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Missense_Mutation_p.E1030K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1030					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)			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)				TCATCATCTTCATGGTCTTCC	0.368																																						ENST00000318121.3	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.956175	0.960000	0.990000																										0				56						c.(3088-3090)Gaa>Aaa		claspin							197.0	171.0	180.0					1																	36208797		2203	4300	6503	SO:0001583	missense	63967	0	0					g.chr1:36208797C>T	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.3088G>A	chr1.hg19:g.36208797C>T	ENSP00000312995:p.Glu1030Lys	1					CLSPN_ENST00000251195.5_Missense_Mutation_p.E1030K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K	p.E1030K	NM_022111.3	NP_071394.2	0	1	1	1.827221	Q9HAW4	CLSPN_HUMAN		18	3145	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	1	1	hg19	c.3088G>A	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446160	0.63178	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26373	1.74;1.74;1.77;1.78	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.326183	0.31531	N	0.007486	T	0.34193	0.0889	L	0.53249	1.67	0.34227	D	0.6761	P;D	0.56287	0.949;0.975	B;P	0.48815	0.31;0.591	T	0.48328	-0.9045	10	0.48119	T	0.1	-7.7497	15.7587	0.78058	0.0:1.0:0.0:0.0	.	966;1030	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	1030;1030;966;977	ENSP00000251195:E1030K;ENSP00000312995:E1030K;ENSP00000362317:E966K;ENSP00000428848:E977K	ENSP00000251195:E1030K	E	-	1	0	0	CLSPN	35981384	35981384	0.159000	0.22864	0.998000	0.56505	0.373000	0.29922	1.465000	0.35299	2.579000	0.87056	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_022111			78	74		624	611	1		1	1		0	0	117	0		1	3.541987e-01	0	3	0	8	0	78	624
TEKT2	27285	broad.mit.edu	37	1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	395					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607																																						ENST00000207457.3	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.946804	0.950000	0.990000																										0				13						c.(1183-1185)Cgc>Tgc		tektin 2 (testicular)							49.0	37.0	41.0					1																	36553677		2202	4300	6502	SO:0001583	missense	27285	2	121392	35				g.chr1:36553677C>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1183C>T	chr1.hg19:g.36553677C>T	ENSP00000207457:p.Arg395Cys	1					ADPRHL2_ENST00000373178.4_5'Flank	p.R395C	NM_014466.2	NP_055281.2	0	1	1	1.827221	Q9UIF3	TEKT2_HUMAN		10	1310	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	1	1	hg19	c.1183C>T	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376836	0.42105	.	.	ENSG00000092850	ENST00000207457	T	0.02737	4.18	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.356751	0.28964	N	0.013579	T	0.06600	0.0169	M	0.77103	2.36	0.54753	D	0.999989	B	0.16802	0.019	B	0.17722	0.019	T	0.04467	-1.0949	10	0.62326	D	0.03	.	13.8828	0.63691	0.1531:0.8469:0.0:0.0	.	395	Q9UIF3	TEKT2_HUMAN	C	395	ENSP00000207457:R395C	ENSP00000207457:R395C	R	+	1	0	0	TEKT2	36326264	36326264	0.571000	0.26659	0.820000	0.32676	0.669000	0.39330	0.973000	0.29422	2.266000	0.75297	0.462000	0.41574	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_014466			26	26		111	109	1		1	0		0	0	39	0		1	1.005664e-01	0	0	0	3	0	26	111
ADPRHL2	54936	broad.mit.edu	37	1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	295						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557																																						ENST00000373178.4	1.000000	0.930000	1	9.600000e-01	0.980000	0.985908	0.980000	0.990000																										0				8						c.(883-885)cCt>cAt		ADP-ribosylhydrolase like 2							127.0	123.0	125.0					1																	36558779		2203	4300	6503	SO:0001583	missense	54936	0	0					g.chr1:36558779C>A	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.884C>A	chr1.hg19:g.36558779C>A	ENSP00000362273:p.Pro295His	1						p.P295H	NM_017825.2	NP_060295.1	0	1	1	1.827221	Q9NX46	ARHL2_HUMAN		6	914	+		Myeloproliferative disorder(586;0.0393)	Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	1	1	hg19	c.884C>A	CCDS402.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501166	0.85176	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.50001	0.76	5.48	4.57	0.56435	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74768	-0.3553	10	0.62326	D	0.03	-11.1167	14.2562	0.66053	0.0:0.9283:0.0:0.0716	.	295	Q9NX46	ARHL2_HUMAN	H	295;215;141	ENSP00000362273:P295H	ENSP00000362273:P295H	P	+	2	0	0	ADPRHL2	36331366	36331366	1.000000	0.71417	0.842000	0.33263	0.949000	0.60115	7.783000	0.85696	1.305000	0.44909	0.563000	0.77884	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	0	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.765009	1	0.170000	NM_017825			81	78		271	266	1		1	1		0	0	94	0		1	1	0	68	0	110	0	81	271
COL8A2	1296	broad.mit.edu	37	1	36563619	36563619	+	Missense_Mutation	SNP	C	C	T	rs574001499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	ENST00000397799.1	-	4	1887	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M|COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	555	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCCCAGCACGGCACCCTCC	0.721																																						ENST00000397799.1	1.000000	0.560000	9.700000e-01	7.300000e-01	0.880000	0.858624	0.880000	0.990000																										0				17						c.(1663-1665)Gtg>Atg		collagen, type VIII, alpha 2							13.0	14.0	13.0					1																	36563619		2194	4282	6476	SO:0001583	missense	1296	6	120296	32				g.chr1:36563619C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1663G>A	chr1.hg19:g.36563619C>T	ENSP00000380901:p.Val555Met	1					COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M|COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M	p.V555M			0	1	1	1.827221	P25067	CO8A2_HUMAN		4	1887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	0	1	hg19	c.1663G>A	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580132	0.46006	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91295	-2.82;-2.82;-2.82	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.214888	0.38778	N	0.001572	D	0.90191	0.6934	L	0.47716	1.5	0.41621	D	0.988961	D	0.71674	0.998	P	0.53809	0.735	D	0.89884	0.4032	10	0.46703	T	0.11	.	11.8389	0.52342	0.1751:0.8249:0.0:0.0	.	555	P25067	CO8A2_HUMAN	M	555;555;490;279	ENSP00000305913:V555M;ENSP00000380901:V555M;ENSP00000436433:V490M	ENSP00000305913:V555M	V	-	1	0	0	COL8A2	36336206	36336206	0.980000	0.34600	0.931000	0.37212	0.980000	0.70556	2.197000	0.42696	2.223000	0.72356	0.462000	0.41574	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	0		2	2	2	0		0	0	18		18	17	1	2.060000	-18.352070	1	0.170000	NM_005202			10	10		61	60	0		1	0		0	0	18	0		9.973921e-01	9.964713e-01	0	1	0	65	0	10	61
COL8A2	1296	broad.mit.edu	37	1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	535	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746																																						ENST00000397799.1	1.000000	0.500000	9.600000e-01	6.700000e-01	0.840000	0.821370	0.840000	0.990000																										0				17						c.(1603-1605)Gcc>Acc		collagen, type VIII, alpha 2							7.0	9.0	8.0					1																	36563679		2114	4176	6290	SO:0001583	missense	1296	0	0					g.chr1:36563679C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1603G>A	chr1.hg19:g.36563679C>T	ENSP00000380901:p.Ala535Thr	1					COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T	p.A535T			0	1	1	1.827221	P25067	CO8A2_HUMAN		4	1827	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	0	1	hg19	c.1603G>A	CCDS403.1	0	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246784	0.10130	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.94280	-3.39;-3.39;-3.39	3.85	0.904	0.19302	3.85	0.904	0.19302	.	0.539335	0.16818	N	0.198300	D	0.86527	0.5954	L	0.38649	1.16	0.29604	N	0.847453	B	0.02656	0.0	B	0.01281	0.0	T	0.73193	-0.4060	10	0.12766	T	0.61	.	9.4277	0.38590	0.0:0.7447:0.0:0.2553	.	535	P25067	CO8A2_HUMAN	T	535;535;470;259	ENSP00000305913:A535T;ENSP00000380901:A535T;ENSP00000436433:A470T	ENSP00000305913:A535T	A	-	1	0	0	COL8A2	36336266	36336266	0.412000	0.25392	0.817000	0.32601	0.560000	0.35617	0.763000	0.26517	0.419000	0.25927	0.462000	0.41574	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.746	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-15.693750	1	0.170000	NM_005202			9	9		70	70	1		1	0		0	0	15	0		9.951329e-01	7.927319e-01	0	1	0	24	0	9	70
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662																																						ENST00000397799.1	1.000000	0.640000	9.700000e-01	7.700000e-01	0.890000	0.880349	0.890000	0.990000																										0				17						c.(799-801)gGa>gAa		collagen, type VIII, alpha 2							15.0	18.0	17.0					1																	36564482		2195	4291	6486	SO:0001583	missense	1296	0	0					g.chr1:36564482C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	chr1.hg19:g.36564482C>T	ENSP00000380901:p.Gly267Glu	1					COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E	p.G267E			0	1	1	1.827221	P25067	CO8A2_HUMAN		4	1024	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	1	1	hg19	c.800G>A	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	0	COL8A2	36337069	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_005202			18	18		140	140	1		1	1		0	0	37	0		9.999873e-01	9.857956e-01	0	3	0	54	0	18	140
MAP7D1	55700	broad.mit.edu	37	1	36640530	36640530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000316156.4_Intron	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	257					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612																																						ENST00000373151.2	1.000000	0.790000	9.900000e-01	8.800000e-01	0.950000	0.942457	0.950000	0.990000																										0				19						c.(769-771)aaC>aaT		MAP7 domain containing 1							64.0	64.0	64.0					1																	36640530		2203	4300	6503	SO:0001819	synonymous_variant	55700	2	121412	31				g.chr1:36640530C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.771C>T	chr1.hg19:g.36640530C>T		1					MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Silent_p.N257N	p.N257N	NM_018067.3	NP_060537.3	0	1	1	1.827221	Q3KQU3	MA7D1_HUMAN		6	987	+		Myeloproliferative disorder(586;0.0393)	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	1	1	hg19	c.771C>T	CCDS30673.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_018067			32	31		190	185	1		1	1		0	0	52	0		1	9.999993e-01	0	32	0	105	0	32	190
MAP7D1	55700	broad.mit.edu	37	1	36642393	36642393	+	Silent	SNP	G	G	A	rs201024870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000373151.2	+	8	1545	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000316156.4_Silent_p.L406L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	443					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTCGCTGCCCGCCTCCC	0.657																																						ENST00000373151.2	0.990000	0.440000	9.500000e-01	6.300000e-01	0.810000	0.795449	0.810000	0.990000																										0				19						c.(1327-1329)ctG>ctA		MAP7 domain containing 1							26.0	36.0	33.0					1																	36642393		2187	4280	6467	SO:0001819	synonymous_variant	55700	0	0					g.chr1:36642393G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1329G>A	chr1.hg19:g.36642393G>A		1					MAP7D1_ENST00000316156.4_Silent_p.L406L|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Silent_p.L411L	p.L443L	NM_018067.3	NP_060537.3	0	1	1	1.827221	Q3KQU3	MA7D1_HUMAN		8	1545	+		Myeloproliferative disorder(586;0.0393)	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	0	1	hg19	c.1329G>A	CCDS30673.1	0	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033468	0.19590	.	.	ENSG00000116871	ENST00000530975	.	.	.	5.04	-0.339	0.12647	5.04	-0.339	0.12647	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-14.0724	5.145	0.14979	0.241:0.2783:0.4807:0.0	.	.	.	.	T	26	.	.	A	+	1	0	0	MAP7D1	36414980	36414980	0.997000	0.39634	0.940000	0.37924	0.584000	0.36387	0.232000	0.17891	-0.243000	0.09653	-0.254000	0.11334	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-13.236600	1	0.170000	NM_018067			7	7		55	54	0		1	1		0	0	11	0		9.816825e-01	9.999004e-01	0	18	0	163	0	7	55
MAP7D1	55700	broad.mit.edu	37	1	36642421	36642421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642421G>A	ENST00000373151.2	+	8	1573	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000316156.4_Missense_Mutation_p.A416T	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	453					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGCCTCTCTGCCAGCACCGC	0.647																																						ENST00000373151.2	0.990000	0.420000	9.400000e-01	6.100000e-01	0.800000	0.782593	0.800000	0.990000																										0				19						c.(1357-1359)Gcc>Acc		MAP7 domain containing 1							10.0	18.0	15.0					1																	36642421		2124	4183	6307	SO:0001583	missense	55700	4	118128	18				g.chr1:36642421G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1357G>A	chr1.hg19:g.36642421G>A	ENSP00000362244:p.Ala453Thr	1					MAP7D1_ENST00000316156.4_Missense_Mutation_p.A416T|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T	p.A453T	NM_018067.3	NP_060537.3	0	1	1	1.827221	Q3KQU3	MA7D1_HUMAN		8	1573	+		Myeloproliferative disorder(586;0.0393)	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	0	1	hg19	c.1357G>A	CCDS30673.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.407987|1.407987	0.25378|0.25378	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151|ENST00000530975	T;T;T|.	0.16196|.	3.56;2.36;3.56|.	4.52|4.52	-5.79|-5.79	0.02354|0.02354	4.52|4.52	-5.79|-5.79	0.02354|0.02354	.|.	0.456133|.	0.16372|.	N|.	0.217268|.	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25441|.	0.126;0.0;0.0;0.126|.	B;B;B;B|.	0.19946|.	0.027;0.001;0.001;0.027|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|5	0.45353|.	T|.	0.12|.	0.0076|0.0076	0.7636|0.7636	0.01011|0.01011	0.3726:0.1128:0.1722:0.3424|0.3726:0.1128:0.1722:0.3424	.|.	453;416;421;453|.	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;MA7D1_HUMAN|.	T|Y	416;421;453|35	ENSP00000320228:A416T;ENSP00000362243:A421T;ENSP00000362244:A453T|.	ENSP00000320228:A416T|.	A|C	+|+	1|2	0|0	0|0	MAP7D1|MAP7D1	36415008|36415008	36415008|36415008	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.182000|-1.182000	0.03082|0.03082	-0.856000|-0.856000	0.04120|0.04120	-0.314000|-0.314000	0.08810|0.08810	GCC|TGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	0	0	0		2	2	2	0		0	0	9		9	8	1	2.060000	-13.073450	1	0.170000	NM_018067			7	6		60	51	0		1	1		0	0	9	0		9.692206e-01	9.999956e-01	0	30	0	295	0	7	60
THRAP3	9967	broad.mit.edu	37	1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	803	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			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)				AGGAAAGAGAGGAGAGCACCA	0.512			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.919644	0.930000	0.990000				Dom	yes			Dom	yes		1	1p34.3	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)				M	M	USP6		aneurysmal bone cysts		0				37						c.(2407-2409)gaG>gaT		thyroid hormone receptor associated protein 3							87.0	81.0	83.0					1																	36766592		2203	4300	6503	SO:0001583	missense	9967	0	0					g.chr1:36766592G>T	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.2409G>T	chr1.hg19:g.36766592G>T	ENSP00000346634:p.Glu803Asp	1					THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	p.E803D	NM_005119.3	NP_005110.2	0	1	1	1.827221	Q9Y2W1	TR150_HUMAN		10	2633	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	1	1	hg19	c.2409G>T	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479885	0.63849	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.51	2.51	0.30379	5.51	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.16041	0.0386	L	0.54323	1.7	0.35027	D	0.758439	B	0.12013	0.005	B	0.15870	0.014	T	0.11717	-1.0576	10	0.33141	T	0.24	-19.3771	10.2893	0.43586	0.2348:0.0:0.7652:0.0	.	803	Q9Y2W1	TR150_HUMAN	D	803	ENSP00000346634:E803D;ENSP00000433825:E803D	ENSP00000346634:E803D	E	+	3	2	2	THRAP3	36539179	36539179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.993000	0.40747	0.767000	0.33267	0.650000	0.86243	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_005119			34	33		269	266	1		1	1		0	0	81	0		1	1	0	96	0	391	0	34	269
MRPS15	64960	broad.mit.edu	37	1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	229					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473																																						ENST00000373116.5	1.000000	0.830000	9.900000e-01	9.000000e-01	0.960000	0.954349	0.960000	0.990000																										0				14						c.(685-687)gCt>gAt		mitochondrial ribosomal protein S15							123.0	118.0	120.0					1																	36921477		2203	4300	6503	SO:0001583	missense	64960	0	0					g.chr1:36921477G>T	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.686C>A	chr1.hg19:g.36921477G>T	ENSP00000362208:p.Ala229Asp	1					MRPS15_ENST00000488606.1_5'UTR	p.A229D	NM_031280.3	NP_112570.2	0	1	1	1.827221	P82914	RT15_HUMAN		8	847	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	1	1	hg19	c.686C>A	CCDS411.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713210	0.68730	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.47	4.51	0.55191	5.47	4.51	0.55191	.	0.487586	0.21396	N	0.075224	T	0.50017	0.1591	M	0.64997	1.995	0.30780	N	0.742056	P	0.50066	0.931	P	0.45310	0.476	T	0.59815	-0.7383	9	0.56958	D	0.05	-13.38	13.6971	0.62587	0.0:0.0:0.8472:0.1528	.	229	P82914	RT15_HUMAN	D	229	.	ENSP00000362208:A229D	A	-	2	0	0	MRPS15	36694064	36694064	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.724000	0.38064	2.730000	0.93505	0.643000	0.83706	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_031280			62	62		464	455	1		1	1		0	0	104	0		1	1	0	43	0	164	0	62	464
CSF3R	1441	broad.mit.edu	37	1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373106.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373103.1_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	156	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602																																						ENST00000373106.1	1.000000	0.910000	1	9.500000e-01	0.980000	0.980543	0.980000	0.990000																										0				38						c.(466-468)tTc>tCc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						102.0	99.0	100.0					1																	36939383		2203	4300	6503	SO:0001583	missense	1441	0	0					g.chr1:36939383A>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.467T>C	chr1.hg19:g.36939383A>G	ENSP00000362198:p.Phe156Ser	1					CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373103.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000487540.2_5'Flank	p.F156S	NM_000760.3	NP_000751.1	0	1	1	1.827221	Q99062	CSF3R_HUMAN		5	1014	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Missense_Mutation	SNP	ENST00000373106.1	1	1	hg19	c.467T>C	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900556	0.72754	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.585977	0.19347	N	0.116499	T	0.54631	0.1870	L	0.58428	1.81	0.39473	D	0.967753	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.69654	0.965;0.927;0.931;0.917	T	0.55958	-0.8058	10	0.49607	T	0.09	-32.3395	13.3768	0.60743	1.0:0.0:0.0:0.0	.	156;156;156;156	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	156	ENSP00000362198:F156S;ENSP00000362196:F156S;ENSP00000362195:F156S;ENSP00000355406:F156S;ENSP00000332180:F156S;ENSP00000401588:F156S;ENSP00000345013:F156S;ENSP00000397568:F156S	ENSP00000332180:F156S	F	-	2	0	0	CSF3R	36711970	36711970	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	1.549000	0.36212	2.107000	0.64212	0.496000	0.49642	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_156039			62	61		214	205	1		1	0		0	0	61	0		1	9.940029e-01	0	0	0	30	0	62	214
ZC3H12A	80149	broad.mit.edu	37	1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	rs141438153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20754	0.0		0.001	False		,,,				2504	0.0					ENST00000373087.6	1.000000	0.690000	9.800000e-01	8.000000e-01	0.900000	0.894768	0.900000	0.990000																										0				21						c.(598-600)Cgg>Tgg		zinc finger CCCH-type containing 12A							160.0	148.0	152.0					1																	37947216		2203	4300	6503	SO:0001583	missense	80149	5	121412	37				g.chr1:37947216C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.598C>T	chr1.hg19:g.37947216C>T	ENSP00000362179:p.Arg200Trp	1						p.R200W	NM_025079.2	NP_079355.2	0	1	1	1.827221				4	714	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Missense_Mutation	SNP	ENST00000373087.6	1	1	hg19	c.598C>T	CCDS417.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.30	3.354347	0.61293	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.42	2.49	0.30216	5.42	2.49	0.30216	Ribonuclease Zc3h12a-like (1);	0.177358	0.50627	N	0.000109	T	0.47948	0.1473	L	0.36672	1.1	0.36793	D	0.884925	D	0.89917	1.0	D	0.77557	0.99	T	0.51124	-0.8745	10	0.59425	D	0.04	-16.5197	6.2099	0.20623	0.112:0.6504:0.1088:0.1288	.	200	Q5D1E8	ZC12A_HUMAN	W	200	ENSP00000362179:R200W	ENSP00000362174:R200W	R	+	1	2	2	ZC3H12A	37719803	37719803	0.525000	0.26290	0.956000	0.39512	0.919000	0.55068	0.474000	0.22148	0.014000	0.14944	-1.134000	0.01955	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.318794	1	0.170000	NM_025079			36	36		334	329	0		1	1		0	0	86	0		1	9.456466e-01	0	4	0	43	0	36	334
ZC3H12A	80149	broad.mit.edu	37	1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647																																						ENST00000373087.6	1.000000	0.910000	1	9.500000e-01	0.980000	0.979485	0.980000	0.990000																										0				21						c.(1342-1344)tCg>tTg		zinc finger CCCH-type containing 12A							25.0	30.0	28.0					1																	37948755		2203	4300	6503	SO:0001583	missense	80149	0	0					g.chr1:37948755C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1343C>T	chr1.hg19:g.37948755C>T	ENSP00000362179:p.Ser448Leu	1						p.S448L	NM_025079.2	NP_079355.2	0	1	1	1.827221				6	1459	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Missense_Mutation	SNP	ENST00000373087.6	1	1	hg19	c.1343C>T	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320778	0.81469	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.20598	2.06	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.603852	0.16474	N	0.212828	T	0.45816	0.1361	M	0.68952	2.095	0.39404	D	0.966641	D;D	0.71674	0.998;0.985	D;P	0.64877	0.93;0.456	T	0.41662	-0.9496	10	0.72032	D	0.01	-19.643	17.6306	0.88106	0.0:1.0:0.0:0.0	.	243;448	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	L	448	ENSP00000362179:S448L	ENSP00000362174:S448L	S	+	2	0	0	ZC3H12A	37721342	37721342	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	2.423000	0.44705	2.579000	0.87056	0.561000	0.74099	TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_025079			66	63		274	268	1		1	1		0	0	51	0		1	9.853048e-01	0	2	0	28	0	66	274
SNIP1	79753	broad.mit.edu	37	1	38003439	38003439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	367					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418																																						ENST00000296215.6	1.000000	0.940000	1	9.700000e-01	0.980000	0.989299	0.980000	0.990000																										0				25						c.(1099-1101)taC>taT		Smad nuclear interacting protein 1							275.0	245.0	255.0					1																	38003439		2203	4300	6503	SO:0001819	synonymous_variant	79753	0	0					g.chr1:38003439G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1101C>T	chr1.hg19:g.38003439G>A		1					SNIP1_ENST00000468040.1_5'Flank	p.Y367Y	NM_024700.3	NP_078976.2	0	1	1	1.827221	Q8TAD8	SNIP1_HUMAN		4	1173	-		Myeloproliferative disorder(586;0.0393)	Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	1	1	hg19	c.1101C>T	CCDS419.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_024700			109	107		411	405	0		1	1		0	0	94	0		1	9.999909e-01	0	18	0	47	0	109	411
SNIP1	79753	broad.mit.edu	37	1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	161	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587																																						ENST00000296215.6	1.000000	0.950000	1	9.700000e-01	0.990000	0.991264	0.990000	0.990000																										0				25						c.(481-483)caG>caT		Smad nuclear interacting protein 1							120.0	125.0	123.0					1																	38006201		2203	4300	6503	SO:0001583	missense	79753	0	0					g.chr1:38006201C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.483G>T	chr1.hg19:g.38006201C>A	ENSP00000296215:p.Gln161His	1					SNIP1_ENST00000468040.1_5'UTR	p.Q161H	NM_024700.3	NP_078976.2	0	1	1	1.827221	Q8TAD8	SNIP1_HUMAN		3	555	-		Myeloproliferative disorder(586;0.0393)	Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	1	1	hg19	c.483G>T	CCDS419.1	1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439562	0.12104	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.14766	2.48	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.261227	0.37761	N	0.001952	T	0.07818	0.0196	N	0.14661	0.345	0.30487	N	0.771717	P	0.39624	0.681	B	0.37601	0.254	T	0.04930	-1.0917	10	0.41790	T	0.15	-9.8716	8.976	0.35935	0.0:0.7008:0.215:0.0843	.	161	Q8TAD8	SNIP1_HUMAN	H	161;145	ENSP00000296215:Q161H	ENSP00000296215:Q161H	Q	-	3	2	2	SNIP1	37778788	37778788	0.345000	0.24835	0.995000	0.50966	0.036000	0.12997	-0.332000	0.07904	2.733000	0.93635	0.655000	0.94253	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-3.462617	1	0.170000	NM_024700			139	135		589	572	1		1	1		0	0	149	0		1	9.997107e-01	0	18	0	34	0	139	589
GNL2	29889	broad.mit.edu	37	1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	413					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTCCCAAGAATCAATCTTGTA	0.408																																						ENST00000373062.3	0.590000	0.150000	4.600000e-01	2.300000e-01	0.330000	0.355927	0.330000	0.320000																										0				30						c.(1237-1239)gAt>gGt		guanine nucleotide binding protein-like 2 (nucleolar)							97.0	91.0	93.0					1																	38040330		2203	4300	6503	SO:0001583	missense	29889	0	0					g.chr1:38040330T>C	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1238A>G	chr1.hg19:g.38040330T>C	ENSP00000362153:p.Asp413Gly	1						p.D413G	NM_013285.2	NP_037417.1	0	1	1	1.827221	Q13823	NOG2_HUMAN		11	1336	-		Myeloproliferative disorder(586;0.0393)	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	0	1	hg19	c.1238A>G	CCDS421.1	0	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230874	0.58777	.	.	ENSG00000134697	ENST00000373062	T	0.59502	0.26	5.87	5.87	0.94306	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.285499	0.44902	D	0.000415	T	0.57799	0.2078	L	0.60455	1.87	0.42968	D	0.994427	B	0.30973	0.302	B	0.32928	0.155	T	0.58940	-0.7547	10	0.51188	T	0.08	-15.827	16.5764	0.84681	0.0:0.0:0.0:1.0	.	413	Q13823	NOG2_HUMAN	G	413	ENSP00000362153:D413G	ENSP00000362153:D413G	D	-	2	0	0	GNL2	37812917	37812917	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.340000	0.65958	2.371000	0.80710	0.533000	0.62120	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-9.645800	1	0.170000	NM_013285			8	9		252	251	1		1	1		0	0	51	0		9.896792e-01	9.502801e-01	0	17	0	151	0	8	252
GNL2	29889	broad.mit.edu	37	1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	346	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418																																						ENST00000373062.3	1.000000	0.710000	9.700000e-01	8.100000e-01	0.900000	0.896325	0.900000	0.990000																										0				30						c.(1036-1038)Aag>Cag		guanine nucleotide binding protein-like 2 (nucleolar)							168.0	149.0	155.0					1																	38042031		2203	4300	6503	SO:0001583	missense	29889	0	0					g.chr1:38042031T>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1036A>C	chr1.hg19:g.38042031T>G	ENSP00000362153:p.Lys346Gln	1						p.K346Q	NM_013285.2	NP_037417.1	0	1	1	1.827221	Q13823	NOG2_HUMAN		9	1134	-		Myeloproliferative disorder(586;0.0393)	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	1	1	hg19	c.1036A>C	CCDS421.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.278906|5.278906	0.95489|0.95489	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000373062;ENST00000545489|ENST00000538069	T|.	0.13778|.	2.56|.	6.14|6.14	6.14|6.14	0.99180|0.99180	6.14|6.14	6.14|6.14	0.99180|0.99180	GTP-binding domain, HSR1-related (1);|.	0.087721|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P|.	0.35894|.	0.526|.	P|.	0.52031|.	0.688|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.66056|.	D|.	0.02|.	-15.4024|-15.4024	16.806|16.806	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	346|.	Q13823|.	NOG2_HUMAN|.	Q|H	346;187|197	ENSP00000362153:K346Q|.	ENSP00000362153:K346Q|.	K|Q	-|-	1|3	0|2	0|2	GNL2|GNL2	37814618|37814618	37814618|37814618	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.896000|0.896000	0.52359|0.52359	8.008000|8.008000	0.88588|0.88588	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAG|CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_013285			44	42		424	411	1		1	1		0	0	116	0		1	9.999989e-01	0	27	0	171	0	44	424
RSPO1	284654	broad.mit.edu	37	1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000401069.1	-	4	965	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	85					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCGGGCGTCGAAGTATCCA	0.622																																					GBM(122;680 2230 27822 42821)	ENST00000401069.1	1.000000	0.910000	1	9.500000e-01	0.980000	0.979828	0.980000	0.990000																										0				12						c.(253-255)Gac>Aac		R-spondin 1							53.0	56.0	55.0					1																	38082189		2013	4170	6183	SO:0001583	missense	284654	3	120932	37				g.chr1:38082189C>T	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.253G>A	chr1.hg19:g.38082189C>T	ENSP00000383847:p.Asp85Asn	1					RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N	p.D85N	NM_001242908.1	NP_001229837.1	0	1	1	1.827221	Q2MKA7	RSPO1_HUMAN		4	965	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	1	1	hg19	c.253G>A	CCDS41304.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.465498	0.96257	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.79	5.79	0.91817	5.79	5.79	0.91817	Growth factor, receptor (1);	0.053446	0.85682	D	0.000000	T	0.77150	0.4088	N	0.21508	0.67	0.58432	D	0.99999	D;D;D	0.67145	0.996;0.975;0.957	P;P;B	0.52031	0.688;0.477;0.284	T	0.79916	-0.1601	10	0.72032	D	0.01	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	85;58;85	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	58;85;85;85;85;85	ENSP00000362150:D58N;ENSP00000383848:D85N;ENSP00000348944:D85N;ENSP00000383849:D85N;ENSP00000383847:D85N;ENSP00000383846:D85N	ENSP00000348944:D85N	D	-	1	0	0	RSPO1	37854776	37854776	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.609000	0.82925	2.753000	0.94483	0.555000	0.69702	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	0	0	0		17	2	2	1		1	1	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_173640			67	66		278	273	0		1			1	0	71	0		1	0	0	0	0	0	0	67	278
RSPO1	284654	broad.mit.edu	37	1	38082217	38082217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000401069.1	-	4	937	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000401068.1_Silent_p.C75C	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	75					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612																																					GBM(122;680 2230 27822 42821)	ENST00000401069.1	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.929947	0.930000	0.990000																										0				12						c.(223-225)tgC>tgT		R-spondin 1							67.0	71.0	70.0					1																	38082217		2055	4190	6245	SO:0001819	synonymous_variant	284654	0	0					g.chr1:38082217G>A	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.225C>T	chr1.hg19:g.38082217G>A		1					RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401068.1_Silent_p.C75C	p.C75C	NM_001242908.1	NP_001229837.1	0	1	1	1.827221	Q2MKA7	RSPO1_HUMAN		4	937	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	1	1	hg19	c.225C>T	CCDS41304.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-16.761680	1	0.170000	NM_173640			46	46		379	373	1		1	0		0	0	81	0		1	1.234433e-02	0	0	0	2	0	46	379
CDCA8	55143	broad.mit.edu	37	1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	173					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537																																						ENST00000373055.1	1.000000	0.720000	9.700000e-01	8.000000e-01	0.890000	0.889000	0.890000	0.930000																										0				11						c.(517-519)gCc>gTc		cell division cycle associated 8							196.0	175.0	182.0					1																	38168953		2203	4300	6503	SO:0001583	missense	55143	1	121412	33				g.chr1:38168953C>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.518C>T	chr1.hg19:g.38168953C>T	ENSP00000362146:p.Ala173Val	1					CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	0	1	1	1.827221	Q53HL2	BOREA_HUMAN		7	791	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	1	1	hg19	c.518C>T	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444363	0.63178	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.61627	0.09;0.09	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.051856	0.85682	D	0.000000	T	0.71710	0.3372	L	0.54323	1.7	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.71573	-0.4552	10	0.54805	T	0.06	-11.3016	15.5657	0.76290	0.0:1.0:0.0:0.0	.	173	Q53HL2	BOREA_HUMAN	V	173	ENSP00000362146:A173V;ENSP00000316121:A173V	ENSP00000316121:A173V	A	+	2	0	0	CDCA8	37941540	37941540	0.973000	0.33851	0.982000	0.44146	0.059000	0.15707	3.905000	0.56333	2.735000	0.93741	0.637000	0.83480	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	0	0	1		2	2	2	0		0	0	209		209	177	1	2.060000	-17.308140	1	0.170000	NM_018101			70	67		735	662	1		1	1		0	0	209	0		1	7.487317e-01	0	8	0	22	0	70	735
EPHA10	284656	broad.mit.edu	37	1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	898	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612																																						ENST00000373048.4	1.000000	0.890000	1	9.400000e-01	0.970000	0.975515	0.970000	0.990000																										0				50						c.(2692-2694)aGc>aTc		EPH receptor A10							46.0	55.0	52.0					1																	38185149		2057	4197	6254	SO:0001583	missense	284656	0	0					g.chr1:38185149C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2693G>T	chr1.hg19:g.38185149C>A	ENSP00000362139:p.Ser898Ile	1					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I|EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I	p.S898I	NM_001099439.1	NP_001092909.1	0	1	1	1.827221	Q5JZY3	EPHAA_HUMAN		15	2692	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	1	1	hg19	c.2693G>T	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400763	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83506	-1.73;-1.73;-1.73	5.04	2.92	0.33932	5.04	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.616022	0.13585	N	0.377082	D	0.82444	0.5038	L	0.57130	1.785	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.81006	-0.1128	10	0.87932	D	0	.	5.1972	0.15245	0.0:0.6077:0.1722:0.2201	.	898	Q5JZY3	EPHAA_HUMAN	I	393;898;898	ENSP00000330379:S393I;ENSP00000397746:S898I;ENSP00000362139:S898I	ENSP00000330379:S393I	S	-	2	0	0	EPHA10	37957736	37957736	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.617000	0.24359	1.163000	0.42636	0.491000	0.48974	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_173641			49	47		161	159	1		1	1		0	0	31	0		1	8.906921e-01	0	8	0	7	0	49	161
EPHA10	284656	broad.mit.edu	37	1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672																																						ENST00000373048.4	1.000000	0.850000	1	9.200000e-01	0.960000	0.962497	0.960000	0.990000																										0				50						c.(2080-2082)gaG>gaT		EPH receptor A10							16.0	20.0	19.0					1																	38187396		2026	4176	6202	SO:0001583	missense	284656	0	0					g.chr1:38187396C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2082G>T	chr1.hg19:g.38187396C>A	ENSP00000362139:p.Glu694Asp	1					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D	p.E694D	NM_001099439.1	NP_001092909.1	0	1	1	1.827221	Q5JZY3	EPHAA_HUMAN		11	2081	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	1	1	hg19	c.2082G>T	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018074	0.35606	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.81163	-1.46;-1.46;-1.46	4.07	2.01	0.26516	4.07	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.87865	0.6285	M	0.92649	3.33	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.88495	0.3078	10	0.87932	D	0	.	8.8099	0.34961	0.0:0.7584:0.1517:0.0899	.	694	Q5JZY3	EPHAA_HUMAN	D	189;694;694	ENSP00000330379:E189D;ENSP00000397746:E694D;ENSP00000362139:E694D	ENSP00000330379:E189D	E	-	3	2	2	EPHA10	37959983	37959983	0.996000	0.38824	1.000000	0.80357	0.399000	0.30720	0.630000	0.24553	1.054000	0.40438	-0.339000	0.08088	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_173641			34	34		123	120	1		1	0		0	0	35	0		1	4.752366e-01	0	1	0	6	0	34	123
EPHA10	284656	broad.mit.edu	37	1	38192845	38192845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	567					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACGGTGACGACAATGGCGG	0.642																																						ENST00000373048.4	0.950000	0.390000	8.400000e-01	5.200000e-01	0.670000	0.684734	0.670000	0.670000																										0				50						c.(1699-1701)gtC>gtT		EPH receptor A10							52.0	67.0	62.0					1																	38192845		2062	4193	6255	SO:0001819	synonymous_variant	284656	6	120990	34				g.chr1:38192845G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1701C>T	chr1.hg19:g.38192845G>A		1					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V|EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V	p.V567V	NM_001099439.1	NP_001092909.1	0	1	1	1.827221	Q5JZY3	EPHAA_HUMAN		8	1700	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	1	1	hg19	c.1701C>T	CCDS41305.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	0	0	1		2	2	2	1		1	0	40		40	37	1	2.060000	-5.913196	1	0.170000	NM_173641			14	12		202	193	0		1	0		1	0	40	0		9.996885e-01	1.417760e-02	0	0	0	3	0	14	202
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607																																						ENST00000373048.4	1.000000	0.840000	9.900000e-01	9.000000e-01	0.960000	0.954090	0.960000	0.990000																										0				50						c.(298-300)cGc>cAc		EPH receptor A10							92.0	86.0	88.0					1																	38227628		2203	4300	6503	SO:0001583	missense	284656	1	121412	36				g.chr1:38227628C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.299G>A	chr1.hg19:g.38227628C>T	ENSP00000362139:p.Arg100His	1					EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	p.R100H	NM_001099439.1	NP_001092909.1	0	1	1	1.827221	Q5JZY3	EPHAA_HUMAN		3	298	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	1	1	hg19	c.299G>A	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	0	EPHA10	38000215	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-19.999990	1	0.170000	NM_173641			79	78		646	639	1		1			0	0	132	0		1	0	0	0	0	0	0	79	646
YRDC	79693	broad.mit.edu	37	1	38272774	38272774	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000373043.1_5'UTR|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	168	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517																																						ENST00000373044.2	1.000000	0.880000	1	9.300000e-01	0.970000	0.970326	0.970000	0.990000																										0				3						c.(502-504)cCt>cTt		yrdC N(6)-threonylcarbamoyltransferase domain containing							94.0	94.0	94.0					1																	38272774		2203	4300	6503	SO:0001630	splice_region_variant	79693	0	0					g.chr1:38272774G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.504+1C>T	chr1.hg19:g.38272774G>A		1					C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000373043.1_5'UTR|C1orf122_ENST00000446260.2_5'Flank	p.P168L	NM_024640.3	NP_078916.3	0	1	1	1.827221	Q86U90	YRDC_HUMAN		2	507	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Splice_Site	SNP	ENST00000373044.2	1	0	hg19	c.503C>T	CCDS30675.1	1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292376	0.23564	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	2.01	0.26516	4.96	2.01	0.26516	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.418875	0.26847	N	0.022194	T	0.61022	0.2314	M	0.78285	2.405	0.47698	D	0.999497	B	0.11235	0.004	B	0.19666	0.026	T	0.57335	-0.7829	9	0.54805	T	0.06	.	10.0128	0.41997	0.0724:0.259:0.6685:0.0	.	168	Q86U90	YRDC_HUMAN	L	168	.	ENSP00000362135:P168L	P	-	2	0	0	YRDC	38045361	38045361	0.999000	0.42202	0.991000	0.47740	0.273000	0.26683	3.742000	0.55097	0.134000	0.18681	-0.251000	0.11542	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_024640	Missense_Mutation		51	50		239	235	1		1	1		0	0	62	0		1	9.997598e-01	0	14	0	47	0	51	239
MTF1	4520	broad.mit.edu	37	1	38287880	38287880	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	560					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)			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)				TGGACTGCAGGATAGCTGTGT	0.473																																						ENST00000373036.4	1.000000	0.880000	1	9.300000e-01	0.970000	0.970186	0.970000	0.990000																										0				31						c.(1678-1680)atC>atA		metal-regulatory transcription factor 1							159.0	155.0	156.0					1																	38287880		2203	4300	6503	SO:0001819	synonymous_variant	4520	0	0					g.chr1:38287880G>T	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.1680C>A	chr1.hg19:g.38287880G>T		1						p.I560I	NM_005955.2	NP_005946.2	0	1	1	1.827221	Q14872	MTF1_HUMAN		9	1820	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	1	1	hg19	c.1680C>A	CCDS30676.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_005955			50	51		230	226	1		1	1		0	0	61	0		1	9.623505e-01	0	7	0	20	0	50	230
MTF1	4520	broad.mit.edu	37	1	38305726	38305726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	171					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)			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)				CCTGATTACAGACAAAGGTGT	0.557																																						ENST00000373036.4	1.000000	0.900000	1	9.500000e-01	0.980000	0.978125	0.980000	0.990000																										0				31						c.(511-513)gtC>gtT		metal-regulatory transcription factor 1							164.0	140.0	148.0					1																	38305726		2203	4300	6503	SO:0001819	synonymous_variant	4520	0	0					g.chr1:38305726G>A	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.513C>T	chr1.hg19:g.38305726G>A		1						p.V171V	NM_005955.2	NP_005946.2	0	1	1	1.827221	Q14872	MTF1_HUMAN		3	653	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	1	1	hg19	c.513C>T	CCDS30676.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_005955			67	67		307	299	1		1	1		0	0	81	0		1	7.441352e-01	0	3	0	11	0	67	307
INPP5B	3633	broad.mit.edu	37	1	38341380	38341380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	ENST00000373026.1	-	16	1926	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	INPP5B_ENST00000373023.2_Silent_p.V642V|INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	642	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCATTTACGACCCTCACCT	0.483																																						ENST00000373026.1	0.760000	0.170000	5.900000e-01	2.700000e-01	0.410000	0.437988	0.410000	0.380000																										0				15						c.(1924-1926)gtC>gtT		inositol polyphosphate-5-phosphatase, 75kDa							84.0	85.0	84.0					1																	38341380		1936	4131	6067	SO:0001819	synonymous_variant	3633	0	0					g.chr1:38341380G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1926C>T	chr1.hg19:g.38341380G>A		1					INPP5B_ENST00000373023.2_Silent_p.V642V|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.V562V	p.V642V			0	1	1	1.827221	P32019	I5P2_HUMAN		16	1926	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	0	1	hg19	c.1926C>T		0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.906717	1	0.170000	NM_005540			6	6		153	144	0		1	1		0	0	34	0		9.591679e-01	3.686430e-01	0	3	0	27	0	6	153
FHL3	2275	broad.mit.edu	37	1	38463411	38463411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463411G>A	ENST00000373016.3	-	5	801	c.633C>T	c.(631-633)gcC>gcT	p.A211A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	211	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCAAAACAGGCCACACAGT	0.587																																						ENST00000373016.3	0.600000	0.190000	4.900000e-01	2.700000e-01	0.360000	0.385478	0.360000	0.360000																										0				5						c.(631-633)gcC>gcT		four and a half LIM domains 3							80.0	78.0	79.0					1																	38463411		2203	4300	6503	SO:0001819	synonymous_variant	2275	0	0					g.chr1:38463411G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.633C>T	chr1.hg19:g.38463411G>A		1					FHL3_ENST00000485803.1_5'UTR	p.A211A	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	0	1	1	1.827221	Q13643	FHL3_HUMAN		5	801	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	1	1	hg19	c.633C>T	CCDS30678.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	0	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-11.657170	1	0.170000	NM_004468			11	10		312	308	0		1	0		0	0	82	0		9.982617e-01	9.184801e-01	0	0	0	126	0	11	312
FHL3	2275	broad.mit.edu	37	1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	181	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587																																						ENST00000373016.3	1.000000	0.650000	9.700000e-01	7.700000e-01	0.880000	0.873198	0.880000	0.980000																										0				5						c.(541-543)tgG>tgA		four and a half LIM domains 3							77.0	75.0	76.0					1																	38463501		2203	4300	6503	SO:0001587	stop_gained	2275	0	0					g.chr1:38463501C>T	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.543G>A	chr1.hg19:g.38463501C>T	ENSP00000362107:p.Trp181*	1					FHL3_ENST00000485803.1_5'UTR	p.W181*	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	0	1	1	1.827221	Q13643	FHL3_HUMAN		5	711	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	D3DPT6|Q6I9T0|Q9BVA2	Nonsense_Mutation	SNP	ENST00000373016.3	0	1	hg19	c.543G>A	CCDS30678.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046342	0.93740	.	.	ENSG00000183386	ENST00000373016	.	.	.	5.01	4.03	0.46877	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.132	0.65260	0.1508:0.8492:0.0:0.0	.	.	.	.	X	181	.	ENSP00000362107:W181X	W	-	3	0	0	FHL3	38236088	38236088	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.849000	0.62882	2.343000	0.79666	0.313000	0.20887	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	1	0	0		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_004468			29	28		279	274	1		1	0		0	0	65	0		1	9.977538e-01	0	0	0	93	0	29	279
UTP11L	51118	broad.mit.edu	37	1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	48					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348																																						ENST00000373014.4	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.935240	0.940000	0.990000																										0				5						c.(142-144)caA>caC		UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)							58.0	65.0	62.0					1																	38483358		2202	4300	6502	SO:0001583	missense	51118	0	0					g.chr1:38483358A>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.144A>C	chr1.hg19:g.38483358A>C	ENSP00000362105:p.Gln48His	1					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	p.Q48H	NM_016037.3	NP_057121.2	0	1	1	1.827221	Q9Y3A2	UTP11_HUMAN		3	205	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	1	1	hg19	c.144A>C	CCDS429.1	1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262537	0.59431	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.95	-2.18	0.07037	5.95	-2.18	0.07037	.	0.050202	0.85682	D	0.000000	T	0.75273	0.3827	M	0.91300	3.195	0.51767	D	0.999934	D	0.54397	0.966	P	0.60345	0.873	T	0.74022	-0.3798	9	0.72032	D	0.01	-0.1329	7.7131	0.28690	0.3306:0.0:0.5414:0.128	.	48	Q9Y3A2	UTP11_HUMAN	H	48	.	ENSP00000362105:Q48H	Q	+	3	2	2	UTP11L	38255945	38255945	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	0.854000	0.27791	-0.624000	0.05611	-1.937000	0.00501	CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_016037			30	30		189	185	1		1	1		0	0	63	0		1	9.999999e-01	0	42	0	132	0	30	189
POU3F1	5453	broad.mit.edu	37	1	38511485	38511485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38511485G>A	ENST00000373012.2	-	1	965	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	311	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGAGCAGCGGCTTGAGCTTG	0.637																																						ENST00000373012.2	0.480000	0.100000	3.700000e-01	1.600000e-01	0.250000	0.274825	0.250000	0.240000																										0				3						c.(931-933)Ccg>Tcg		POU class 3 homeobox 1							54.0	47.0	50.0					1																	38511485		2203	4300	6503	SO:0001583	missense	5453	0	0					g.chr1:38511485G>A	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.931C>T	chr1.hg19:g.38511485G>A	ENSP00000362103:p.Pro311Ser	1					RP5-884C9.2_ENST00000432922.1_lincRNA	p.P311S	NM_002699.3	NP_002690.3	0	1	1	1.827221	Q03052	PO3F1_HUMAN		1	965	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Q5TAG2	Missense_Mutation	SNP	ENST00000373012.2	0	1	hg19	c.931C>T	CCDS30679.1	0	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566948	0.65651	.	.	ENSG00000185668	ENST00000373012	D	0.89875	-2.58	3.78	3.78	0.43462	3.78	3.78	0.43462	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	U	0.000000	D	0.94384	0.8194	M	0.91196	3.185	0.54753	D	0.999985	D	0.56035	0.974	P	0.60173	0.87	D	0.95204	0.8319	10	0.62326	D	0.03	.	13.4986	0.61440	0.0:0.0:1.0:0.0	.	311	Q03052	PO3F1_HUMAN	S	311	ENSP00000362103:P311S	ENSP00000362103:P311S	P	-	1	0	0	POU3F1	38284072	38284072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.219000	0.78000	2.113000	0.64589	0.400000	0.26472	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	0	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-7.075697	1	0.170000	NM_002699			6	6		256	253	0		1	0		0	0	49	0		9.642109e-01	0	0	0	0	1	0	6	256
GJA9	81025	broad.mit.edu	37	1	39340391	39340391	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000360786.3	-	1	1632	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.G460G|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	460					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				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)			ATTGAGAATCTCCTTGTGAAG	0.488																																						ENST00000360786.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.943944	0.950000	0.990000																										0				19						c.(1378-1380)ggA>ggG		gap junction protein, alpha 9, 59kDa							126.0	122.0	123.0					1																	39340391		2203	4300	6503	SO:0001819	synonymous_variant	81025	0	0					g.chr1:39340391T>C	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.1380A>G	chr1.hg19:g.39340391T>C		1					RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.G460G|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA	p.G460G			0	1	1	1.827221	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)	1	1632	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	1	1	hg19	c.1380A>G	CCDS432.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-18.022940	1	0.170000	NM_030772			44	43		315	313	1		1			0	0	70	0		1	0	0	0	0	0	0	44	315
MACF1	23499	broad.mit.edu	37	1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000372915.3	+	30	4087	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1334					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)			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)			GACAAAACTGGATCAATGTCA	0.368																																						ENST00000372915.3	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.911467	0.920000	0.990000																										0				203						c.(4000-4002)Gat>Aat		microtubule-actin crosslinking factor 1							116.0	114.0	115.0					1																	39785375		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39785375G>A	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.4000G>A	chr1.hg19:g.39785375G>A	ENSP00000362006:p.Asp1334Asn	1					MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N	p.D1334N			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	30	4087	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.4000G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348761|4.348761	0.82132|0.82132	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.70254|0.70254	0.3203|0.3203	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.96;0.851|.	D;P;P|.	0.69479|.	0.964;0.737;0.493|.	T|T	0.64795|0.64795	-0.6323|-0.6323	9|5	0.87932|.	D|.	0|.	.|.	20.0165|20.0165	0.97478|0.97478	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1334;1334;1299|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	N|E	1334;1334;1334;1334;1334;1292;1483|467	ENSP00000439537:D1334N;ENSP00000362006:D1334N;ENSP00000354573:D1334N;ENSP00000313438:D1334N;ENSP00000444364:D1334N;ENSP00000435070:D1292N;ENSP00000437059:D1483N|.	ENSP00000313438:D1334N|.	D|G	+|+	1|2	0|0	0|0	MACF1|MACF1	39557962|39557962	39557962|39557962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.007000|8.007000	0.88571|0.88571	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GAT|GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_033044			33	33		273	268	1		1	0	1	0	0	47	311		1	8.696778e-01	1	1	26	31	345	33	273
MACF1	23499	broad.mit.edu	37	1	39797612	39797612	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000372915.3	+	36	5454	c.5367T>C	c.(5365-5367)ctT>ctC	p.L1789L	MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1789					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)			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)			GACACAGACTTACAGTGGAAG	0.478																																						ENST00000372915.3	0.920000	0.420000	8.100000e-01	5.300000e-01	0.660000	0.675221	0.660000	0.660000																										0				203						c.(5365-5367)ctT>ctC		microtubule-actin crosslinking factor 1							103.0	102.0	103.0					1																	39797612		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39797612T>C	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.5367T>C	chr1.hg19:g.39797612T>C		1					MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.L1789L			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	36	5454	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.5367T>C		0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-19.999980	1	0.170000	NM_033044			21	21		314	301	0		1	0		0	0	73	0		9.999968e-01	2.568468e-01	0	0	0	15	0	21	314
MACF1	23499	broad.mit.edu	37	1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A	rs377755332	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000372915.3	+	36	6582	c.6495T>A	c.(6493-6495)caT>caA	p.H2165Q	MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2165					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)			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)			AGAAAGAACATCAACCTCTAA	0.433																																						ENST00000372915.3	0.960000	0.450000	8.600000e-01	5.700000e-01	0.710000	0.719396	0.710000	0.710000																										0				203						c.(6493-6495)caT>caA		microtubule-actin crosslinking factor 1							61.0	62.0	61.0					1																	39798740		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39798740T>A	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.6495T>A	chr1.hg19:g.39798740T>A	ENSP00000362006:p.His2165Gln	1					MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.H2165Q			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	36	6582	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.6495T>A		0	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366911	0.01225	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.27	5.92	2.84	0.33178	5.92	2.84	0.33178	.	1.286490	0.05217	N	0.507867	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.26395	-1.0104	10	0.20519	T	0.43	.	9.7105	0.40243	0.0:0.4105:0.43:0.1595	.	2165	Q9UPN3	MACF1_HUMAN	Q	2165;600	ENSP00000362006:H2165Q;ENSP00000289893:H600Q	ENSP00000289893:H600Q	H	+	3	2	2	MACF1	39571327	39571327	0.000000	0.05858	0.038000	0.18304	0.040000	0.13550	0.299000	0.19138	0.308000	0.22923	0.383000	0.25322	CAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-19.999980	1	0.170000	NM_033044			20	19		274	267	0		1	0		0	0	64	0		9.999946e-01	2.091215e-01	0	0	0	12	0	20	274
MACF1	23499	broad.mit.edu	37	1	39799004	39799004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799004C>T	ENST00000372915.3	+	36	6846	c.6759C>T	c.(6757-6759)aaC>aaT	p.N2253N	MACF1_ENST00000564288.1_Silent_p.N2248N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2253					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)			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)			AAGCACAGAACATCGCAGGTG	0.398																																						ENST00000372915.3	0.600000	0.240000	5.100000e-01	3.100000e-01	0.400000	0.414911	0.400000	0.390000																										0				203						c.(6757-6759)aaC>aaT		microtubule-actin crosslinking factor 1							102.0	100.0	101.0					1																	39799004		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39799004C>T	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.6759C>T	chr1.hg19:g.39799004C>T		1					MACF1_ENST00000564288.1_Silent_p.N2248N|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.N2253N			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	36	6846	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.6759C>T		0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-16.385800	1	0.170000	NM_033044			17	16		438	425	0		1	0		0	0	80	0		9.999564e-01	9.296077e-02	0	0	0	13	0	17	438
MACF1	23499	broad.mit.edu	37	1	39799706	39799706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000372915.3	+	36	7548	c.7461G>A	c.(7459-7461)caG>caA	p.Q2487Q	MACF1_ENST00000564288.1_Silent_p.Q2482Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2487					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)			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)			CAGTTGTGCAGTCCATTGACA	0.413																																						ENST00000372915.3	1.000000	0.950000	1	9.700000e-01	0.990000	0.991608	0.990000	0.990000																										0				203						c.(7459-7461)caG>caA		microtubule-actin crosslinking factor 1							148.0	154.0	152.0					1																	39799706		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39799706G>A	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.7461G>A	chr1.hg19:g.39799706G>A		1					MACF1_ENST00000564288.1_Silent_p.Q2482Q|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.Q2487Q			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	36	7548	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.7461G>A		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-20.000000	1	0.170000	NM_033044			140	135		573	563	1		1	0		0	0	154	0		1	8.733425e-01	0	0	0	17	0	140	573
MACF1	23499	broad.mit.edu	37	1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					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.L1519I(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)			CAATTTAAGTCTCTGCTTGAC	0.403																																						ENST00000372915.3	0.990000	0.600000	9.500000e-01	7.200000e-01	0.850000	0.843802	0.850000	0.910000																										1	Substitution - Missense(1)	p.L1519I(1)	large_intestine(1)	203						c.(9250-9252)Ctc>Atc		microtubule-actin crosslinking factor 1							43.0	49.0	47.0					1																	39801495		2202	4300	6502	SO:0001583	missense	23499	0	0					g.chr1:39801495C>A	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.9250C>A	chr1.hg19:g.39801495C>A	ENSP00000362006:p.Leu3084Ile	1					MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.L3084I			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	36	9337	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.9250C>A		1	.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	0	MACF1	39574082	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_033044			26	25		271	266	0		1	0		0	0	70	0		9.999999e-01	3.632678e-01	0	0	0	14	0	26	271
MACF1	23499	broad.mit.edu	37	1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000372915.3	+	47	12385	c.12298C>A	c.(12298-12300)Ctg>Atg	p.L4100M	MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4100					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)			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)			CTCCTATAGCCTGGCTGAGCG	0.448																																						ENST00000372915.3	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.913111	0.920000	0.990000																										0				203						c.(12298-12300)Ctg>Atg		microtubule-actin crosslinking factor 1							56.0	56.0	56.0					1																	39826503		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39826503C>A	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.12298C>A	chr1.hg19:g.39826503C>A	ENSP00000362006:p.Leu4100Met	1					MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M	p.L4100M			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	47	12385	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.12298C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.593516|1.593516	0.28357|0.28357	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.8|5.8	1.02|1.02	0.19986|0.19986	5.8|5.8	1.02|1.02	0.19986|0.19986	.|.	0.136619|.	0.30940|.	N|.	0.008565|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.41597|.	0.756;0.109;0.097;0.041|.	P;B;B;B|.	0.51016|.	0.656;0.061;0.055;0.059|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.45353|.	T|.	0.12|.	.|.	4.1057|4.1057	0.10035|0.10035	0.2912:0.4006:0.0:0.3082|0.2912:0.4006:0.0:0.3082	.|.	4100;2033;2033;1998|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2033;4100;2033;2033;2033;2535|1166	ENSP00000439537:L2033M;ENSP00000362006:L4100M;ENSP00000354573:L2033M;ENSP00000313438:L2033M;ENSP00000444364:L2033M;ENSP00000289893:L2535M|.	ENSP00000289893:L2535M|.	L|P	+|+	1|2	2|0	2|0	MACF1|MACF1	39599090|39599090	39599090|39599090	0.990000|0.990000	0.36364|0.36364	0.800000|0.800000	0.32199|0.32199	0.942000|0.942000	0.58702|0.58702	1.718000|1.718000	0.38001|0.38001	0.211000|0.211000	0.20683|0.20683	0.563000|0.563000	0.77884|0.77884	CTG|CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_033044			27	27		202	197	1		1	1	1	0	0	50	452		1	9.940465e-01	1	4	47	59	371	27	202
MACF1	23499	broad.mit.edu	37	1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000372915.3	+	47	12457	c.12370C>A	c.(12370-12372)Ctg>Atg	p.L4124M	MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4124					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)			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)			CCTGGAGAGCCTGTTGCAGTC	0.507																																						ENST00000372915.3	1.000000	0.680000	9.800000e-01	8.000000e-01	0.910000	0.897145	0.910000	0.990000																										0				203						c.(12370-12372)Ctg>Atg		microtubule-actin crosslinking factor 1							73.0	71.0	72.0					1																	39826575		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39826575C>A	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.12370C>A	chr1.hg19:g.39826575C>A	ENSP00000362006:p.Leu4124Met	1					MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M	p.L4124M			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	47	12457	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.12370C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.356181|1.356181	0.24598|0.24598	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.62|5.62	2.52|2.52	0.30459|0.30459	5.62|5.62	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.46145|.	D|.	0.000302|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.76494|.	0.998;0.542;0.999;0.678|.	D;B;D;P|.	0.85130|.	0.99;0.396;0.997;0.674|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|5	0.27785|.	T|.	0.31|.	.|.	7.468|7.468	0.27332|0.27332	0.0:0.5743:0.0:0.4257|0.0:0.5743:0.0:0.4257	.|.	4124;2057;2057;2022|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2057;4124;2057;2057;2057;2559|1190	ENSP00000439537:L2057M;ENSP00000362006:L4124M;ENSP00000354573:L2057M;ENSP00000313438:L2057M;ENSP00000444364:L2057M;ENSP00000289893:L2559M|.	ENSP00000289893:L2559M|.	L|P	+|+	1|2	2|0	2|0	MACF1|MACF1	39599162|39599162	39599162|39599162	0.015000|0.015000	0.18098|0.18098	0.987000|0.987000	0.45799|0.45799	0.246000|0.246000	0.25737|0.25737	0.167000|0.167000	0.16602|0.16602	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	CTG|CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-11.376070	1	0.170000	NM_033044			25	25		203	200	1		1	1	1	0	0	58	757		9.999999e-01	9.962223e-01	1	8	70	66	679	25	203
MACF1	23499	broad.mit.edu	37	1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000372915.3	+	56	14258	c.14171T>C	c.(14170-14172)gTa>gCa	p.V4724A	MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4724					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)			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)			CCAGAGGCTGTAAAGCAGCAA	0.517																																						ENST00000372915.3	1.000000	0.900000	1	9.400000e-01	0.980000	0.977221	0.980000	0.990000																										0				203						c.(14170-14172)gTa>gCa		microtubule-actin crosslinking factor 1							85.0	81.0	83.0					1																	39851413		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39851413T>C	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.14171T>C	chr1.hg19:g.39851413T>C	ENSP00000362006:p.Val4724Ala	1					MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A	p.V4724A			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	56	14258	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.14171T>C		1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846298	0.91277	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	T	0.58538	0.2129	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.65815	0.995;0.958;0.958	D;P;P	0.71184	0.972;0.747;0.761	T	0.60601	-0.7231	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4724;2657;2601	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	A	2657;4724;2657;2657;2636;3159	ENSP00000439537:V2657A;ENSP00000362006:V4724A;ENSP00000354573:V2657A;ENSP00000313438:V2657A;ENSP00000444364:V2636A;ENSP00000289893:V3159A	ENSP00000289893:V3159A	V	+	2	0	0	MACF1	39624000	39624000	1.000000	0.71417	0.968000	0.41197	0.909000	0.53808	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_033044			57	54		219	215	1		1	1	1	0	0	53	774		1	9.999995e-01	1	11	157	75	531	57	219
MACF1	23499	broad.mit.edu	37	1	39851459	39851459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000372915.3	+	56	14304	c.14217G>A	c.(14215-14217)gaG>gaA	p.E4739E	MACF1_ENST00000564288.1_Silent_p.E4734E|MACF1_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4739					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)			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)			CTGACTTGGAGCAGTTAGACC	0.502																																						ENST00000372915.3	0.780000	0.300000	6.500000e-01	3.900000e-01	0.510000	0.526062	0.510000	0.500000																										0				203						c.(14215-14217)gaG>gaA		microtubule-actin crosslinking factor 1							113.0	103.0	106.0					1																	39851459		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39851459G>A	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.14217G>A	chr1.hg19:g.39851459G>A		1					MACF1_ENST00000564288.1_Silent_p.E4734E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E	p.E4739E			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	56	14304	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.14217G>A		0	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528900	0.13127	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.123	0.13527	6.06	-0.123	0.13527	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	4	.	.	.	.	10.0573	0.42252	0.4608:0.0:0.5392:0.0	.	.	.	.	T	1785	.	.	A	+	1	0	0	MACF1	39624046	39624046	1.000000	0.71417	0.633000	0.29310	0.841000	0.47740	1.693000	0.37742	-0.262000	0.09392	-0.136000	0.14681	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-4.830621	1	0.170000	NM_033044			15	15		300	292	0		1	1	1	0	0	68	676		9.998559e-01	8.833089e-01	9.999997e-01	2	31	75	588	15	300
MACF1	23499	broad.mit.edu	37	1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000372915.3	+	64	17060	c.16973C>A	c.(16972-16974)aCt>aAt	p.T5658N	MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5658					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)			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)			GTCAGTGACACTATTGGACAA	0.438																																						ENST00000372915.3	0.940000	0.430000	8.200000e-01	5.400000e-01	0.670000	0.687143	0.670000	0.670000																										0				203						c.(16972-16974)aCt>aAt		microtubule-actin crosslinking factor 1							165.0	144.0	151.0					1																	39896528		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39896528C>A	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.16973C>A	chr1.hg19:g.39896528C>A	ENSP00000362006:p.Thr5658Asn	1					MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N	p.T5658N			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	64	17060	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.16973C>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265183|4.265183	0.80358|0.80358	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.32;1.31;1.32;1.31;1.32;1.32	5.57|5.57	5.57|5.57	0.84162|0.84162	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.088123	.|0.49305	.|D	.|0.000148	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53151	.|0.942;0.958;0.928	.|P;P;P	.|0.54346	.|0.561;0.749;0.614	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.56958	.|D	.|0.05	.|.	19.9093|19.9093	0.97021|0.97021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5658;3700;3644	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Q|N	2703|3700;5658;3700;3700;3570;4202	.|ENSP00000439537:T3700N;ENSP00000362006:T5658N;ENSP00000354573:T3700N;ENSP00000313438:T3700N;ENSP00000444364:T3570N;ENSP00000289893:T4202N	.|ENSP00000289893:T4202N	H|T	+|+	3|2	2|0	2|0	MACF1|MACF1	39669115|39669115	39669115|39669115	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	3.956000|3.956000	0.56722|0.56722	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAC|ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-6.540755	1	0.170000	NM_033044			20	19		292	286	1		1	1	1	0	0	83	664		9.999948e-01	9.997014e-01	1	23	81	170	600	20	292
MACF1	23499	broad.mit.edu	37	1	39904950	39904950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000372915.3	+	71	18009	c.17922C>A	c.(17920-17922)atC>atA	p.I5974I	MACF1_ENST00000564288.1_Silent_p.I6075I|MACF1_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5974					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)			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)			CCTCAGAAATCCAGGATAAAT	0.373																																						ENST00000372915.3	0.990000	0.440000	9.200000e-01	5.900000e-01	0.770000	0.762817	0.770000	0.820000																										0				203						c.(17920-17922)atC>atA		microtubule-actin crosslinking factor 1							39.0	41.0	40.0					1																	39904950		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39904950C>A	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.17922C>A	chr1.hg19:g.39904950C>A		1					MACF1_ENST00000564288.1_Silent_p.I6075I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I	p.I5974I			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	71	18009	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.17922C>A		0	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938741	0.18206	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.86	2.75	0.32379	5.86	2.75	0.32379	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	9.3164	0.37937	0.3003:0.633:0.0:0.0668	.	.	.	.	T	3020	.	.	P	+	1	0	0	MACF1	39677537	39677537	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.510000	0.22723	0.256000	0.21614	0.650000	0.86243	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-6.381937	1	0.170000	NM_033044			11	11		124	120	0		1	1	1	0	0	29	18		9.982959e-01	9.998408e-01	4.656969e-01	30	3	162	15	11	124
MACF1	23499	broad.mit.edu	37	1	39910396	39910396	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000372915.3	+	79	19278	c.19191A>G	c.(19189-19191)agA>agG	p.R6397R	MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6397					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)			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)			ACAAGGGCAGACTCATGCTTC	0.458																																						ENST00000372915.3	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.916332	0.920000	0.990000																										0				203						c.(19189-19191)agA>agG		microtubule-actin crosslinking factor 1							101.0	93.0	95.0					1																	39910396		2203	4300	6503	SO:0001819	synonymous_variant	23499	0	0					g.chr1:39910396A>G	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.19191A>G	chr1.hg19:g.39910396A>G		1					MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000545844.1_Silent_p.R4439R	p.R6397R			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	79	19278	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	1	1	hg19	c.19191A>G		1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362540	0.24684	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.01	0.19927	6.16	1.01	0.19927	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	9.8307	0.40939	0.3494:0.0:0.6506:0.0	.	.	.	.	A	3443	.	.	T	+	1	0	0	MACF1	39682983	39682983	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	0.996000	0.29719	-0.059000	0.13154	-0.248000	0.11899	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_033044			29	29		219	216	1		1	1	1	0	0	63	357		1	1	1	42	26	208	324	29	219
MACF1	23499	broad.mit.edu	37	1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000372915.3	+	91	21196	c.21109C>T	c.(21109-21111)Cgt>Tgt	p.R7037C	MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7037					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)			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)			AAAGTATATGCGTTGGATGAA	0.398																																						ENST00000372915.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.989298	0.980000	0.990000																										0				203						c.(21109-21111)Cgt>Tgt		microtubule-actin crosslinking factor 1							151.0	154.0	153.0					1																	39926355		2203	4300	6503	SO:0001583	missense	23499	3	121412	36				g.chr1:39926355C>T	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.21109C>T	chr1.hg19:g.39926355C>T	ENSP00000362006:p.Arg7037Cys	1					MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C	p.R7037C			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	91	21196	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.21109C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354817|5.354817	0.95854|0.95854	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11	5.81|5.81	5.81|5.81	0.92471|0.92471	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.31040|0.31040	0.0784|0.0784	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.00173|0.00173	-1.1957|-1.1957	5|9	.|.	.|.	.|.	.|.	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|7037;5079	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	V|C	4082;60|5079;7037;5079;5079;4949;5581	.|ENSP00000439537:R5079C;ENSP00000362006:R7037C;ENSP00000354573:R5079C;ENSP00000313438:R5079C;ENSP00000444364:R4949C;ENSP00000289893:R5581C	.|.	A|R	+|+	2|1	0|0	0|0	MACF1|MACF1	39698942|39698942	39698942|39698942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.761000|2.761000	0.94854|0.94854	0.585000|0.585000	0.79938|0.79938	GCG|CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_033044			112	111		441	433	1		1	1	1	0	0	130	360		1	1	1	109	83	220	305	112	441
MACF1	23499	broad.mit.edu	37	1	39945590	39945590	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39945590C>A	ENST00000372915.3	+	95	21776	c.21689C>A	c.(21688-21690)tCc>tAc	p.S7230Y	MACF1_ENST00000564288.1_Missense_Mutation_p.S7360Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7230	C-terminal tail. {ECO:0000250}.|Ser-rich.				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)			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)			CGGGCAGCTTCCCCTACTCGT	0.552																																						ENST00000372915.3	0.470000	0.110000	3.600000e-01	1.700000e-01	0.250000	0.273279	0.250000	0.240000																										0				203						c.(21688-21690)tCc>tAc		microtubule-actin crosslinking factor 1							117.0	92.0	101.0					1																	39945590		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39945590C>A	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.21689C>A	chr1.hg19:g.39945590C>A	ENSP00000362006:p.Ser7230Tyr	1					MACF1_ENST00000564288.1_Missense_Mutation_p.S7360Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y	p.S7230Y			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	95	21776	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	0	1	hg19	c.21689C>A		0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.272131|5.272131|5.272131	0.95429|0.95429|0.95429	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|.|T;T;T;T;T;T	.|.|0.70164	.|.|-0.42;-0.31;-0.42;-0.46;-0.25;0.75	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000014	T|T|T	0.81029|0.81029|0.81029	0.4738|0.4738|0.4738	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D	.|.|0.76494	.|.|0.998;0.996;0.999;0.998;0.999;0.998	.|.|D;D;D;D;D;D	.|.|0.87578	.|.|0.997;0.967;0.998;0.992;0.996;0.997	T|T|T	0.78650|0.78650|0.78650	-0.2121|-0.2121|-0.2121	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	20.0628|20.0628|20.0628	0.97684|0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|7230;5272;4275;63;5780;172	.|.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|T|Y	4275;259|385;173|5272;7230;5272;5272;5142;5780;149;134	.|.|ENSP00000439537:S5272Y;ENSP00000362006:S7230Y;ENSP00000354573:S5272Y;ENSP00000313438:S5272Y;ENSP00000444364:S5142Y;ENSP00000289893:S5780Y	.|.|.	F|P|S	+|+|+	3|1|2	2|0|0	2|0|0	MACF1|MACF1|MACF1	39718177|39718177|39718177	39718177|39718177|39718177	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.425000|7.425000|7.425000	0.80255|0.80255|0.80255	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CCC|TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-3.656440	1	0.170000	NM_033044			7	7		296	289	0		1	1	1	0	0	51	1053		9.792620e-01	9.949987e-01	9.999370e-01	14	13	409	974	7	296
MACF1	23499	broad.mit.edu	37	1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000372915.3	+	96	21874	c.21787C>T	c.(21787-21789)Cca>Tca	p.P7263S	MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263	C-terminal tail. {ECO:0000250}.|Ser-rich.				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)			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)			TAAGGTTATCCCATCATCAGG	0.388																																						ENST00000372915.3	0.990000	0.650000	9.500000e-01	7.500000e-01	0.860000	0.856996	0.860000	0.890000																										0				203						c.(21787-21789)Cca>Tca		microtubule-actin crosslinking factor 1							87.0	93.0	91.0					1																	39950279		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39950279C>T	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.21787C>T	chr1.hg19:g.39950279C>T	ENSP00000362006:p.Pro7263Ser	1					MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S	p.P7263S			0	1	1	1.827221	Q9UPN3	MACF1_HUMAN	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)	96	21874	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.21787C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898360|0.898360	0.17686|0.17686	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.67171	.|-0.22;-0.11;-0.22;-0.25;-0.07;0.95	6.03|6.03	0.848|0.848	0.18966|0.18966	6.03|6.03	0.848|0.848	0.18966|0.18966	.|.	0.326671|0.326671	0.26915|0.26915	N|N	0.021858|0.021858	T|T	0.57315|0.57315	0.2045|0.2045	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.20261	.|0.005;0.0;0.0;0.043;0.043;0.002	.|B;B;B;B;B;B	.|0.17433	.|0.009;0.001;0.001;0.018;0.014;0.011	T|T	0.44513|0.44513	-0.9323|-0.9323	6|9	.|.	.|.	.|.	.|.	8.3126|8.3126	0.32080|0.32080	0.0:0.6324:0.1095:0.2581|0.0:0.6324:0.1095:0.2581	.|.	.|7263;5305;4308;133;5813;242	.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|S	4308;329|5305;7263;5305;5305;5175;5813;219	.|ENSP00000439537:P5305S;ENSP00000362006:P7263S;ENSP00000354573:P5305S;ENSP00000313438:P5305S;ENSP00000444364:P5175S;ENSP00000289893:P5813S	.|.	P|P	+|+	2|1	0|0	0|0	MACF1|MACF1	39722866|39722866	39722866|39722866	0.708000|0.708000	0.27876|0.27876	0.960000|0.960000	0.40013|0.40013	0.750000|0.750000	0.42670|0.42670	1.005000|1.005000	0.29834|0.29834	-0.058000|-0.058000	0.13177|0.13177	-0.797000|-0.797000	0.03246|0.03246	CCC|CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1		2	2	2	0		0	0	128		128	125	1	2.060000	-3.017764	1	0.170000	NM_033044			43	41		465	455	0		1	1	1	0	0	128	507		1	1	1	56	54	376	508	43	465
HPCAL4	51440	broad.mit.edu	37	1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622																																						ENST00000372844.3	0.990000	0.520000	9.500000e-01	6.800000e-01	0.840000	0.823421	0.840000	0.980000																										0				8						c.(121-123)Ggc>Agc		hippocalcin like 4							63.0	52.0	56.0					1																	40150155		2203	4300	6503	SO:0001583	missense	51440	0	0					g.chr1:40150155C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.121G>A	chr1.hg19:g.40150155C>T	ENSP00000361935:p.Gly41Ser	1						p.G41S	NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	0	1	1	1.827221	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)	2	512	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	1	1	hg19	c.121G>A	CCDS441.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.704217	0.96812	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.79247	-1.25	4.4	4.4	0.53042	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.98048	4.135	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.78314	0.195;0.991	D	0.95576	0.8642	10	0.87932	D	0	.	17.8549	0.88760	0.0:1.0:0.0:0.0	.	41;41	B4DGW9;Q9UM19	.;HPCL4_HUMAN	S	41;33	ENSP00000361935:G41S	ENSP00000361935:G41S	G	-	1	0	0	HPCAL4	39922742	39922742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.378000	0.81104	0.561000	0.74099	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-19.200610	1	0.170000	NM_016257			13	12		121	117	0		1	0		0	0	34	0		9.995140e-01	0	0	0	0	1	0	13	121
BMP8B	656	broad.mit.edu	37	1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372827.3	-	5	1283	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000356511.2_3'UTR|PPIE_ENST00000372830.1_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	303					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557																																						ENST00000372827.3	1.000000	0.730000	9.800000e-01	8.200000e-01	0.910000	0.905807	0.910000	0.990000																										0				4						c.(907-909)cGg>cAg		bone morphogenetic protein 8b							74.0	79.0	77.0					1																	40229424		2203	4299	6502	SO:0001583	missense	656	1	121386	33				g.chr1:40229424C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.908G>A	chr1.hg19:g.40229424C>T	ENSP00000361915:p.Arg303Gln	1					BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000372830.1_3'UTR|PPIE_ENST00000356511.2_3'UTR	p.R303Q	NM_001720.3	NP_001711.2	0	1	1	1.827221	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)	5	1283	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	1	1	hg19	c.908G>A	CCDS444.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611999	0.87258	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	D;D	0.90069	-2.61;-2.45	4.02	4.02	0.46733	4.02	4.02	0.46733	Transforming growth factor-beta, C-terminal (3);	0.235955	0.40908	U	0.000982	D	0.96194	0.8759	H	0.96943	3.91	0.39632	D	0.970188	D;D	0.89917	1.0;1.0	D;D	0.72338	0.943;0.977	D	0.98128	1.0429	10	0.72032	D	0.01	.	15.4955	0.75646	0.0:1.0:0.0:0.0	.	328;303	E7EMY8;P34820	.;BMP8B_HUMAN	Q	303;328	ENSP00000361915:R303Q;ENSP00000380518:R328Q	ENSP00000361915:R303Q	R	-	2	0	0	BMP8B	40002011	40002011	0.961000	0.32948	0.989000	0.46669	0.997000	0.91878	3.414000	0.52693	2.249000	0.74217	0.650000	0.86243	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	1	0	1		2	2	2	0		0	0	74		74	75	1	2.060000	-3.017764	1	0.170000	NM_001720			52	51		499	486	0		1	1		0	0	74	0		1	9.446048e-01	0	9	0	39	0	52	499
TRIT1	54802	broad.mit.edu	37	1	40309819	40309819	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000545233.1_Silent_p.L150L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	396					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			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)			AGAGGTCACACAGGTGATAAC	0.468																																						ENST00000316891.5	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.901697	0.910000	0.990000																										0				15						c.(1186-1188)ctG>ctT		tRNA isopentenyltransferase 1							158.0	141.0	147.0					1																	40309819		2203	4300	6503	SO:0001819	synonymous_variant	54802	0	0					g.chr1:40309819C>A	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.1188G>T	chr1.hg19:g.40309819C>A		1					TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000537223.1_Silent_p.L92L	p.L396L	NM_017646.4	NP_060116.2	0	1	1	1.827221	Q9H3H1	MOD5_HUMAN	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)	10	1202	-	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)	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	1	1	hg19	c.1188G>T	CCDS30681.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.221884	1	0.170000	NM_017646			35	35		312	304	1		1	1		0	0	87	0		1	9.803963e-01	0	10	0	48	0	35	312
RLF	6018	broad.mit.edu	37	1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	840					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)			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)			ATCAGTGAAACTTGAGGAGTC	0.348																																						ENST00000372771.4	1.000000	0.860000	1	9.200000e-01	0.970000	0.965722	0.970000	0.990000																										0				68						c.(2518-2520)Ctt>Att		rearranged L-myc fusion							41.0	41.0	41.0					1																	40702892		2203	4300	6503	SO:0001583	missense	6018	0	0					g.chr1:40702892C>A		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.2518C>A	chr1.hg19:g.40702892C>A	ENSP00000361857:p.Leu840Ile	1						p.L840I	NM_012421.3	NP_036553.2	0	1	1	1.827221	Q13129	RLF_HUMAN	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)	8	2545	+	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)	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	1	1	hg19	c.2518C>A	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.518082	0.04171	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15372	2.43	5.65	3.72	0.42706	5.65	3.72	0.42706	.	0.431666	0.27586	N	0.018704	T	0.12178	0.0296	L	0.38838	1.175	0.28583	N	0.910047	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.22706	T	0.39	-3.5999	8.1302	0.31022	0.0:0.733:0.1318:0.1352	.	533;840	F5H2M5;Q13129	.;RLF_HUMAN	I	840;533	ENSP00000361857:L840I	ENSP00000361857:L840I	L	+	1	0	0	RLF	40475479	40475479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.586000	0.49944	0.655000	0.94253	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_012421			41	40		174	173	1		1	1		0	0	44	0		1	9.892419e-01	0	9	0	24	0	41	174
TMCO2	127391	broad.mit.edu	37	1	40713707	40713707	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40713707G>A	ENST00000372766.3	+	1	135	c.42G>A	c.(40-42)gaG>gaA	p.E14E	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	14						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACCTCTTAGAGTCTCTCTCTC	0.403																																						ENST00000372766.3	1.000000	0.970000	1	9.800000e-01	0.990000	0.995424	0.990000	1.000000																										0				6						c.(40-42)gaG>gaA		transmembrane and coiled-coil domains 2							158.0	160.0	159.0					1																	40713707		2203	4300	6503	SO:0001819	synonymous_variant	127391	0	0					g.chr1:40713707G>A	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.42G>A	chr1.hg19:g.40713707G>A		1					TMCO2_ENST00000468258.1_Intron	p.E14E	NM_001008740.3	NP_001008740.1	0	1	1	1.827221	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)	1	135	+	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)		Silent	SNP	ENST00000372766.3	1	0	hg19	c.42G>A	CCDS30684.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	1	0	0		2	2	2	0		0	0	170		170	145	1	2.060000	-20.000000	1	0.170000	NM_001008740			207	202		750	632	1		1			0	0	170	0		1	0	0	0	0	0	0	207	750
TMCO2	127391	broad.mit.edu	37	1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	92						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368																																						ENST00000372766.3	1.000000	0.920000	1	9.500000e-01	0.980000	0.982505	0.980000	0.990000																										0				6						c.(274-276)tAc>tGc		transmembrane and coiled-coil domains 2							77.0	80.0	79.0					1																	40716992		2203	4300	6503	SO:0001583	missense	127391	0	0					g.chr1:40716992A>G	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.275A>G	chr1.hg19:g.40716992A>G	ENSP00000361852:p.Tyr92Cys	1					TMCO2_ENST00000468258.1_3'UTR	p.Y92C	NM_001008740.3	NP_001008740.1	0	1	1	1.827221	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)	2	368	+	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)		Missense_Mutation	SNP	ENST00000372766.3	1	1	hg19	c.275A>G	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535742	0.64972	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000124	T	0.60856	0.2301	L	0.32530	0.975	0.36795	D	0.885068	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	9	0.87932	D	0	-9.6777	11.454	0.50169	1.0:0.0:0.0:0.0	.	92	Q7Z6W1	TMCO2_HUMAN	C	92	.	ENSP00000361852:Y92C	Y	+	2	0	0	TMCO2	40489579	40489579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.007000	0.57093	2.202000	0.70862	0.533000	0.62120	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	1	0	1		2	2	2	0		0	0	85		85	81	1	2.060000	-20.000000	1	0.170000	NM_001008740			73	72		284	281	1		1			0	0	85	0		1	0	0	0	0	0	0	73	284
ZMPSTE24	10269	broad.mit.edu	37	1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	182					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338																																						ENST00000372759.3	1.000000	0.970000	1	9.800000e-01	0.990000	0.995638	0.990000	1.000000																										0				16						c.(544-546)tCt>tAt		zinc metallopeptidase STE24							193.0	201.0	198.0					1																	40735717		2203	4300	6503	SO:0001583	missense	10269	0	0					g.chr1:40735717C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.545C>A	chr1.hg19:g.40735717C>A	ENSP00000361845:p.Ser182Tyr	1						p.S182Y	NM_005857.4	NP_005848.2	0	1	1	1.827221	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)	5	710	+	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)	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	1	1	hg19	c.545C>A	CCDS449.1	1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230167	0.58777	.	.	ENSG00000084073	ENST00000372759	D	0.82619	-1.63	5.66	4.69	0.59074	5.66	4.69	0.59074	.	0.151556	0.64402	D	0.000016	T	0.77818	0.4187	L	0.29908	0.895	0.49051	D	0.999745	B	0.29886	0.26	B	0.35859	0.212	T	0.76642	-0.2884	10	0.45353	T	0.12	-9.9802	16.0844	0.81031	0.0:0.8661:0.1339:0.0	.	182	O75844	FACE1_HUMAN	Y	182	ENSP00000361845:S182Y	ENSP00000361845:S182Y	S	+	2	0	0	ZMPSTE24	40508304	40508304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.654000	0.90174	0.650000	0.86243	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1	1	0	1		20	2	2	0		0	1	150		150	150	1	2.060000	-20.000000	1	0.170000				209	206		722	704	1		1	1		0	0	150	0		1	1	0	42	0	70	0	209	722
ZMPSTE24	10269	broad.mit.edu	37	1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A	rs370823306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	287					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393																																						ENST00000372759.3	1.000000	0.820000	9.900000e-01	9.000000e-01	0.950000	0.951210	0.950000	0.990000																										0				16						c.(859-861)taC>taA		zinc metallopeptidase STE24							96.0	97.0	97.0					1																	40747106		2203	4300	6503	SO:0001587	stop_gained	10269	0	0					g.chr1:40747106C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.861C>A	chr1.hg19:g.40747106C>A	ENSP00000361845:p.Tyr287*	1						p.Y287*	NM_005857.4	NP_005848.2	0	1	1	1.827221	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)	7	1026	+	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)	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Nonsense_Mutation	SNP	ENST00000372759.3	0	1	hg19	c.861C>A	CCDS449.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.521541	0.97633	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.46	3.47	0.39725	5.46	3.47	0.39725	.	0.054788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4102	6.7743	0.23611	0.0:0.5632:0.0:0.4368	.	.	.	.	X	287	.	ENSP00000361845:Y287X	Y	+	3	2	2	ZMPSTE24	40519693	40519693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	0.551000	0.29008	0.655000	0.94253	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				53	53		383	381	1		1	1		0	0	79	0		1	9.999947e-01	0	2	0	127	0	53	383
SMAP2	64744	broad.mit.edu	37	1	40874336	40874336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	83					regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			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)			GCATGCAAGAGATGGGAAATG	0.428																																						ENST00000539317.1	0.810000	0.340000	6.800000e-01	4.300000e-01	0.550000	0.565712	0.550000	0.540000																										0				24						c.(7-9)gaG>gaA		small ArfGAP2							172.0	143.0	153.0					1																	40874336		2203	4300	6503	SO:0001819	synonymous_variant	64744	0	0					g.chr1:40874336G>A	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.9G>A	chr1.hg19:g.40874336G>A		1						p.E3E	NM_001198980.1	NP_001185909.1	0	1	1	1.827221	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)	3	202	+	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)	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	1	1	hg19	c.9G>A	CCDS55593.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-19.505290	1	0.170000	NM_022733			18	18		331	323	0		1	1		0	0	85	0		9.999797e-01	9.999916e-01	0	4	0	372	0	18	331
NFYC	4802	broad.mit.edu	37	1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000308733.5	+	5	515	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	170					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	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;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617																																						ENST00000308733.5	0.800000	0.230000	6.400000e-01	3.400000e-01	0.470000	0.498246	0.470000	0.460000																										0				15						c.(508-510)aCg>aTg		nuclear transcription factor Y, gamma							54.0	49.0	51.0					1																	41223914		2203	4300	6503	SO:0001583	missense	4802	0	0					g.chr1:41223914C>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.509C>T	chr1.hg19:g.41223914C>T	ENSP00000312617:p.Thr170Met	1					NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M	p.T170M			0	1	1	1.827221	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)	5	515	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	1	1	hg19	c.509C>T		0	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162681	0.78226	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.0;1.0;1.0;1.0;1.0;0.94;1.0;1.0;1.0;1.0;1.5;1.0	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.094419	0.64402	D	0.000001	T	0.56124	0.1964	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D;D;D;D;D	0.89917	0.99;0.997;1.0;0.983;1.0;0.99;0.99;1.0	P;P;D;B;D;P;P;D	0.79784	0.725;0.855;0.926;0.321;0.951;0.725;0.725;0.993	T	0.56426	-0.7981	10	0.62326	D	0.03	.	17.0961	0.86635	0.0:1.0:0.0:0.0	.	132;76;170;170;170;170;170;170	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	M	132;170;170;170;68;68;170;170;170;170;170;170;138;170	ENSP00000408315:T132M;ENSP00000404427:T170M;ENSP00000396620:T170M;ENSP00000408867:T170M;ENSP00000361738:T170M;ENSP00000361737:T170M;ENSP00000361754:T170M;ENSP00000361736:T170M;ENSP00000361734:T170M;ENSP00000414299:T170M;ENSP00000409219:T138M;ENSP00000312617:T170M	ENSP00000312617:T170M	T	+	2	0	0	NFYC	40996501	40996501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.653000	0.90120	0.561000	0.74099	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-11.316710	1	0.170000	NM_014223			9	9		194	191	0		1	1		0	0	46	0		9.941447e-01	9.946568e-01	0	12	0	192	0	9	194
KCNQ4	9132	broad.mit.edu	37	1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	232					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)			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)	TCAGTGGTCTACGCGCATAGC	0.711																																						ENST00000347132.5	1.000000	0.750000	9.900000e-01	8.600000e-01	0.940000	0.932577	0.940000	0.990000																										0				26						c.(694-696)tAc>tGc		potassium voltage-gated channel, KQT-like subfamily, member 4	Ezogabine(DB04953)						13.0	13.0	13.0					1																	41284339		2196	4294	6490	SO:0001583	missense	9132	0	0					g.chr1:41284339A>G	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.695A>G	chr1.hg19:g.41284339A>G	ENSP00000262916:p.Tyr232Cys	1					KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	0	1	1	1.827221	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)	4	777	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	O96025	Missense_Mutation	SNP	ENST00000347132.5	1	1	hg19	c.695A>G	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370694	0.42003	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98493	-4.96;-4.96	5.04	2.66	0.31614	5.04	2.66	0.31614	Ion transport (1);	0.229388	0.37623	N	0.002018	D	0.97430	0.9159	L	0.43646	1.37	0.58432	D	0.99999	B;D	0.69078	0.361;0.997	B;D	0.63113	0.275;0.911	D	0.95141	0.8264	10	0.33940	T	0.23	-8.7373	8.8674	0.35294	0.7028:0.0:0.0:0.2972	.	232;232	P56696-2;P56696	.;KCNQ4_HUMAN	C	232	ENSP00000262916:Y232C;ENSP00000423756:Y232C	ENSP00000262916:Y232C	Y	+	2	0	0	KCNQ4	41056926	41056926	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	5.921000	0.70028	0.359000	0.24239	0.528000	0.53228	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.711	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_004700			18	17		64	61	0		1	0		0	0	15	0		9.999874e-01	1.336721e-01	0	0	0	3	0	18	64
SLFNL1	200172	broad.mit.edu	37	1	41482929	41482929	+	Missense_Mutation	SNP	C	C	T	rs187351729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	ENST00000359345.1	-	3	3654	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000397197.2_Intron	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	360							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCCTGGATGGCGCTGGCAGAC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17143	0.0		0.0	False		,,,				2504	0.0					ENST00000359345.1	1.000000	0.590000	9.800000e-01	7.500000e-01	0.890000	0.872423	0.890000	0.990000																										0				10						c.(1078-1080)Gcc>Acc		schlafen-like 1							25.0	25.0	25.0					1																	41482929		2199	4296	6495	SO:0001583	missense	200172	15	121140	34				g.chr1:41482929C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1078G>A	chr1.hg19:g.41482929C>T	ENSP00000352299:p.Ala360Thr	1					SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T	p.A360T	NM_144990.3	NP_659427.3	0	1	1	1.827221	Q499Z3	SLNL1_HUMAN		3	3654	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	0	1	hg19	c.1078G>A	CCDS460.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.7	4.758338	0.89843	.	.	ENSG00000171790	ENST00000302946;ENST00000372611;ENST00000359345;ENST00000439569	T;T;T;T	0.27402	1.67;1.8;1.67;1.67	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000073	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.64506	0.926;0.565	T	0.12785	-1.0534	10	0.42905	T	0.14	-35.7209	15.047	0.71835	0.0:1.0:0.0:0.0	.	301;360	Q499Z3-2;Q499Z3	.;SLNL1_HUMAN	T	360;301;360;360	ENSP00000304401:A360T;ENSP00000361694:A301T;ENSP00000352299:A360T;ENSP00000398938:A360T	ENSP00000304401:A360T	A	-	1	0	0	SLFNL1	41255516	41255516	0.980000	0.34600	0.960000	0.40013	0.876000	0.50452	2.561000	0.45905	2.619000	0.88677	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-18.724920	1	0.170000	NM_144990			10	10		51	49	0		1			0	0	17	0		9.972531e-01	0	0	0	0	0	0	10	51
HIVEP3	59269	broad.mit.edu	37	1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A	rs192804009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372583.1	-	9	7396	c.6511C>T	c.(6511-6513)Cgg>Tgg	p.R2171W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2170W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2171					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCTGTCCGGGCCAGGATG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17024	0.001		0.0	False		,,,				2504	0.0					ENST00000372583.1	0.580000	0.180000	4.700000e-01	2.600000e-01	0.350000	0.368982	0.350000	0.340000																										0				85						c.(6511-6513)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	98.0	94.0	95.0		6508,6511	4.0	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2170/2406,2171/2407	41976832	1,13005	2203	4300	6503	SO:0001583	missense	59269	6	121396	40				g.chr1:41976832G>A	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.6511C>T	chr1.hg19:g.41976832G>A	ENSP00000361664:p.Arg2171Trp	1					HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2170W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR	p.R2171W	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		9	7396	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	1	1	hg19	c.6511C>T	CCDS463.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.717244	0.48622	0.0	1.16E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.94	3.99	0.46301	4.94	3.99	0.46301	.	0.000000	0.43416	D	0.000575	T	0.12390	0.0301	L	0.29908	0.895	0.31181	N	0.702082	D;D	0.71674	0.998;0.997	P;P	0.56751	0.805;0.644	T	0.02505	-1.1149	10	0.56958	D	0.05	-9.1919	9.1971	0.37235	0.0:0.1599:0.6746:0.1654	.	2170;2171	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2170;2171;2171;2170	ENSP00000361665:R2170W;ENSP00000361664:R2171W;ENSP00000247584:R2171W;ENSP00000410828:R2170W	ENSP00000247584:R2171W	R	-	1	2	2	HIVEP3	41749419	41749419	1.000000	0.71417	0.983000	0.44433	0.342000	0.28953	3.272000	0.51616	1.243000	0.43853	0.561000	0.74099	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-2.641271	1	0.170000	NM_024503			11	11		327	316	0		1	0		0	0	62	0		9.980788e-01	5.801724e-02	0	1	0	10	0	11	327
HIVEP3	59269	broad.mit.edu	37	1	41990569	41990569	+	Silent	SNP	G	G	A	rs200525352		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372583.1	-	6	6105	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000372584.1_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Silent_p.N1740N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1740					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488																																						ENST00000372583.1	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.937623	0.940000	0.990000																										0				85						c.(5218-5220)aaC>aaT		human immunodeficiency virus type I enhancer binding protein 3							94.0	87.0	89.0					1																	41990569		2203	4300	6503	SO:0001819	synonymous_variant	59269	0	0					g.chr1:41990569G>A	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.5220C>T	chr1.hg19:g.41990569G>A		1					HIVEP3_ENST00000372584.1_Silent_p.N1740N|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron	p.N1740N	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		6	6105	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	1	1	hg19	c.5220C>T	CCDS463.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1		2	2	2	0		0	0	62		62	59	1	2.060000	-20.000000	1	0.170000	NM_024503			38	38		270	262	1		1	0		0	0	62	0		1	4.429001e-02	0	0	0	3	0	38	270
HIVEP3	59269	broad.mit.edu	37	1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372583.1	-	4	5423	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513H|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557																																						ENST00000372583.1	1.000000	0.920000	1	9.500000e-01	0.980000	0.982342	0.980000	0.990000																										0				85						c.(4537-4539)cCt>cAt		human immunodeficiency virus type I enhancer binding protein 3							88.0	99.0	95.0					1																	42045931		2203	4300	6503	SO:0001583	missense	59269	0	0					g.chr1:42045931G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4538C>A	chr1.hg19:g.42045931G>T	ENSP00000361664:p.Pro1513His	1					HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000460604.1_5'Flank	p.P1513H	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		4	5423	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	1	1	hg19	c.4538C>A	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143199	0.01728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.37	3.5	0.40072	5.37	3.5	0.40072	.	0.685951	0.13398	N	0.390834	T	0.08133	0.0203	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.29243	-1.0018	10	0.56958	D	0.05	-4.7047	4.9459	0.13989	0.0727:0.1269:0.5488:0.2516	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1513	ENSP00000361665:P1513H;ENSP00000361664:P1513H;ENSP00000247584:P1513H;ENSP00000410828:P1513H	ENSP00000247584:P1513H	P	-	2	0	0	HIVEP3	41818518	41818518	0.993000	0.37304	0.007000	0.13788	0.263000	0.26337	1.773000	0.38563	0.830000	0.34757	-0.137000	0.14449	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-4.602989	1	0.170000	NM_024503			65	65		207	203	1		1	0		0	0	59	0		1	5.868613e-02	0	1	0	1	0	65	207
HIVEP3	59269	broad.mit.edu	37	1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372583.1	-	4	2789	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G635D|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478																																						ENST00000372583.1	1.000000	0.930000	1	9.600000e-01	0.980000	0.987035	0.980000	0.990000																										0				85						c.(1903-1905)gGt>gAt		human immunodeficiency virus type I enhancer binding protein 3							136.0	134.0	135.0					1																	42048565		2203	4300	6503	SO:0001583	missense	59269	0	0					g.chr1:42048565C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1904G>A	chr1.hg19:g.42048565C>T	ENSP00000361664:p.Gly635Asp	1					HIVEP3_ENST00000372584.1_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000460604.1_5'Flank	p.G635D	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		4	2789	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	1	1	hg19	c.1904G>A	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884831	0.51908	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000057	T	0.37517	0.1006	L	0.36672	1.1	0.41696	D	0.989374	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.05386	-1.0888	10	0.37606	T	0.19	-12.2882	12.0853	0.53693	0.172:0.828:0.0:0.0	.	635;635	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	635	ENSP00000361665:G635D;ENSP00000361664:G635D;ENSP00000247584:G635D;ENSP00000410828:G635D	ENSP00000247584:G635D	G	-	2	0	0	HIVEP3	41821152	41821152	0.998000	0.40836	0.873000	0.34254	0.968000	0.65278	4.299000	0.59073	2.326000	0.78906	0.555000	0.69702	GGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_024503			112	112		542	529	1		1	0		0	0	154	0		1	2.988919e-02	0	0	0	2	0	112	542
HIVEP3	59269	broad.mit.edu	37	1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372583.1	-	4	1985	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552																																						ENST00000372583.1	1.000000	0.930000	1	9.600000e-01	0.980000	0.987153	0.980000	0.990000																										0				85						c.(1099-1101)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							90.0	88.0	89.0					1																	42049369		2203	4300	6503	SO:0001583	missense	59269	1	121412	38				g.chr1:42049369C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1100G>A	chr1.hg19:g.42049369C>T	ENSP00000361664:p.Arg367His	1					HIVEP3_ENST00000372584.1_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H	p.R367H	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		4	1985	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	1	1	hg19	c.1100G>A	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110022	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000175	T	0.53932	0.1827	L	0.27053	0.805	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.57717	-0.7763	10	0.72032	D	0.01	-0.0331	18.4234	0.90600	0.0:1.0:0.0:0.0	.	367;367	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	367	ENSP00000361665:R367H;ENSP00000361664:R367H;ENSP00000247584:R367H;ENSP00000410828:R367H	ENSP00000247584:R367H	R	-	2	0	0	HIVEP3	41821956	41821956	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.932000	0.70121	2.689000	0.91719	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-20.000000	1	0.170000	NM_024503			92	87		337	328	1		1	1		0	0	103	0		1	5.403933e-01	0	3	0	5	0	92	337
HIVEP3	59269	broad.mit.edu	37	1	42049542	42049542	+	Silent	SNP	G	G	A	rs35798350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049542G>A	ENST00000372583.1	-	4	1812	c.927C>T	c.(925-927)agC>agT	p.S309S	HIVEP3_ENST00000429157.2_Silent_p.S309S|HIVEP3_ENST00000372584.1_Silent_p.S309S|HIVEP3_ENST00000247584.5_Silent_p.S309S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	309	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTATAGCCCGCTGGAGAGAA	0.597													g|||	146	0.0291534	0.1074	0.0058	5008	,	,		16323	0.0		0.0	False		,,,				2504	0.0					ENST00000372583.1	1.000000	0.940000	1	9.600000e-01	0.980000	0.987706	0.980000	0.990000																										0				85						c.(925-927)agC>agT		human immunodeficiency virus type I enhancer binding protein 3		A	,	316,4090	170.9+/-201.2	12,292,1899	68.0	75.0	73.0		927,927	-2.6	0.0	1	dbSNP_126	73	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	12,295,6196	AA,AG,GG		0.0349,7.172,2.4527	,	309/2406,309/2407	42049542	319,12687	2203	4300	6503	SO:0001819	synonymous_variant	59269	886	121410	62				g.chr1:42049542G>A	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.927C>T	chr1.hg19:g.42049542G>A		1					HIVEP3_ENST00000372584.1_Silent_p.S309S|HIVEP3_ENST00000429157.2_Silent_p.S309S|HIVEP3_ENST00000247584.5_Silent_p.S309S	p.S309S	NM_024503.4	NP_078779.2	0	1	1	1.827221	Q5T1R4	ZEP3_HUMAN		4	1812	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	1	0	hg19	c.927C>T	CCDS463.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-1.958496	0	0.170000	NM_024503			96	88		355	347	1		1	0		0	0	103	0		1	4.601830e-02	0	0	0	2	0	96	355
FOXJ3	22887	broad.mit.edu	37	1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	100					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				TTCACTTAAAGTCATTTTCTT	0.358																																						ENST00000372572.1	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.905066	0.910000	0.990000																										0				18						c.(298-300)aCt>aAt		forkhead box J3							131.0	130.0	130.0					1																	42744089		2203	4300	6503	SO:0001583	missense	22887	0	0					g.chr1:42744089G>T	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.299C>A	chr1.hg19:g.42744089G>T	ENSP00000361653:p.Thr100Asn	1					FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	p.T100N	NM_001198851.1	NP_001185780.1	0	1	1	1.827221	Q9UPW0	FOXJ3_HUMAN		5	610	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	1	1	hg19	c.299C>A	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272096	0.80469	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.48	5.48	0.80851	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98459	1.0595	10	0.87932	D	0	.	16.8493	0.85989	0.0:0.0:1.0:0.0	.	100;100	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	100;100;100;100;100;100;57	ENSP00000361654:T100N;ENSP00000361653:T100N;ENSP00000354620:T100N;ENSP00000354449:T100N;ENSP00000439044:T100N;ENSP00000393408:T100N;ENSP00000403060:T57N	ENSP00000354620:T100N	T	-	2	0	0	FOXJ3	42516676	42516676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.574000	0.86865	0.455000	0.32223	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-14.343660	1	0.170000	NM_014947			43	41		398	393	1		1	1		0	0	79	0		1	9.920455e-01	0	10	0	61	0	43	398
RIMKLA	284716	broad.mit.edu	37	1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	163	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468																																						ENST00000431473.3	1.000000	0.950000	1	9.700000e-01	0.990000	0.992194	0.990000	0.990000																										0				13						c.(487-489)gCt>gAt		ribosomal modification protein rimK-like family member A							131.0	140.0	137.0					1																	42875661		2203	4300	6503	SO:0001583	missense	284716	0	0					g.chr1:42875661C>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.488C>A	chr1.hg19:g.42875661C>A	ENSP00000414330:p.Ala163Asp	1						p.A163D	NM_173642.3	NP_775913.2	0	1	1	1.827221	Q8IXN7	RIMKA_HUMAN		4	617	+			Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	1	1	hg19	c.488C>A	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133153	0.77662	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.42	4.5	0.54988	5.42	4.5	0.54988	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052389	0.85682	D	0.000000	T	0.75525	0.3861	M	0.63843	1.955	0.80722	D	1	B	0.30542	0.284	P	0.47786	0.557	T	0.77043	-0.2734	9	0.72032	D	0.01	-35.7252	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	163	Q8IXN7	RIMKA_HUMAN	D	39;163	.	ENSP00000387064:A39D	A	+	2	0	0	RIMKLA	42648248	42648248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.478000	0.66806	1.256000	0.44068	0.650000	0.86243	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	1	0	1		2	2	2	0		0	0	176		176	175	1	2.060000	-20.000000	1	0.170000	NM_173642			150	148		624	609	1		1	1		0	0	176	0		1	9.716492e-01	0	19	0	7	0	150	624
LEPRE1	64175	broad.mit.edu	37	1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000296388.5	-	14	2037	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.K662N|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	662	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)			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)	TGGTGACAGCCTTCACTCCAT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296388.5	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.944175	0.950000	0.990000																										0				26						c.(1984-1986)aaG>aaT		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						55.0	57.0	56.0					1																	43213012		2202	4300	6502	SO:0001583	missense	64175	0	0					g.chr1:43213012C>A	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.1986G>T	chr1.hg19:g.43213012C>A	ENSP00000296388:p.Lys662Asn	1		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.K662N	p.K662N			0	1	1	1.827221	Q32P28	P3H1_HUMAN		14	2037	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	0	1	hg19	c.1986G>T	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943455	0.53079	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.267222	0.42294	D	0.000724	T	0.47266	0.1436	N	0.25426	0.745	0.43719	D	0.996194	B;B;B	0.21147	0.052;0.011;0.036	B;B;B	0.17433	0.016;0.011;0.018	T	0.42361	-0.9456	10	0.52906	T	0.07	-35.5553	16.4003	0.83639	0.0:1.0:0.0:0.0	.	662;527;662	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	662;662;662;527	ENSP00000380245:K662N;ENSP00000236040:K662N;ENSP00000296388:K662N	ENSP00000236040:K662N	K	-	3	2	2	LEPRE1	42985599	42985599	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.479000	0.22228	2.466000	0.83321	0.655000	0.94253	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	0	0	1		17	11	2	1		1	1	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_022356			45	45		325	317	1		1	1		1	0	73	0		9.999319e-01	9.974304e-01	0	12	0	186	0	45	325
LEPRE1	64175	broad.mit.edu	37	1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000296388.5	-	13	1963	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.T638A|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	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)			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)	GCACTCACCGTCACGGTCTTG	0.473											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296388.5	1.000000	0.960000	1	9.800000e-01	0.990000	0.995115	0.990000	1.000000																										0				26						c.(1912-1914)Acg>Gcg		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						190.0	189.0	189.0					1																	43213396		2203	4300	6503	SO:0001583	missense	64175	0	0					g.chr1:43213396T>C	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.1912A>G	chr1.hg19:g.43213396T>C	ENSP00000296388:p.Thr638Ala	1		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.T638A	p.T638A			0	1	1	1.827221	Q32P28	P3H1_HUMAN		13	1963	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	1	1	hg19	c.1912A>G	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283536	0.80803	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.1	5.1	0.69264	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.49813	0.1579	L	0.52206	1.635	0.47994	D	0.999569	P;P;D	0.58620	0.949;0.907;0.983	P;P;P	0.53593	0.73;0.589;0.715	T	0.53358	-0.8450	10	0.72032	D	0.01	-18.7453	12.8443	0.57821	0.0:0.0:0.0:1.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	638;638;638;503	ENSP00000380245:T638A;ENSP00000236040:T638A;ENSP00000296388:T638A	ENSP00000236040:T638A	T	-	1	0	0	LEPRE1	42985983	42985983	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.589000	0.82641	1.922000	0.55676	0.533000	0.62120	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	0	0	1		2	2	2	0		0	0	193		193	192	1	2.060000	-20.000000	1	0.170000	NM_022356			196	192		704	696	1		1	1		0	0	193	0		1	1	0	21	0	195	0	196	704
ERMAP	114625	broad.mit.edu	37	1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	73	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TTCCCGCAGCGCTCCCAGGCT	0.622																																						ENST00000372517.2	1.000000	0.810000	9.900000e-01	9.000000e-01	0.960000	0.951514	0.960000	0.990000																										0				11						c.(217-219)cGc>cAc		erythroblast membrane-associated protein (Scianna blood group)		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	56.0	58.0		218,218	-7.9	0.0	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ERMAP	NM_001017922.1,NM_018538.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	73/476,73/476	43296571	1,13005	2203	4300	6503	SO:0001583	missense	114625	4	121412	31				g.chr1:43296571G>A	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.218G>A	chr1.hg19:g.43296571G>A	ENSP00000361595:p.Arg73His	1					ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	p.R73H	NM_001017922.1	NP_001017922.1	0	1	1	1.827221	Q96PL5	ERMAP_HUMAN		4	462	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	1	1	hg19	c.218G>A	CCDS475.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941175	0.73557	2.27E-4	0.0	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.65732	-0.17;-0.17	4.97	-7.88	0.01178	4.97	-7.88	0.01178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.993010	0.02380	N	0.078693	T	0.41442	0.1159	N	0.25485	0.75	0.20403	N	0.999905	B;D	0.54047	0.161;0.964	B;P	0.45946	0.012;0.498	T	0.53187	-0.8474	10	0.14656	T	0.56	.	0.3555	0.00356	0.24:0.2245:0.1643:0.3712	.	134;73	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	H	73	ENSP00000361595:R73H;ENSP00000361592:R73H	ENSP00000361592:R73H	R	+	2	0	0	ERMAP	43069158	43069158	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.950000	0.03889	-1.200000	0.02662	0.460000	0.39030	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_018538			25	25		83	81	1		1	1		0	0	29	0		9.999999e-01	9.944200e-01	0	3	0	28	0	25	83
SLC2A1	6513	broad.mit.edu	37	1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	340					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612																																						ENST00000426263.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.990032	0.980000	0.990000																										0				13						c.(1018-1020)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						114.0	109.0	111.0					1																	43394659		2203	4300	6503	SO:0001583	missense	6513	0	0					g.chr1:43394659C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1018G>A	chr1.hg19:g.43394659C>T	ENSP00000416293:p.Gly340Ser	1					SLC2A1_ENST00000475162.1_Intron	p.G340S	NM_006516.2	NP_006507.2	0	1	1	1.827221	P11166	GTR1_HUMAN		8	1196	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	1	1	hg19	c.1018G>A	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.666946	0.96745	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84800	-1.9	5.52	5.52	0.82312	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91337	0.5094	10	0.87932	D	0	.	16.9679	0.86291	0.0:1.0:0.0:0.0	.	340	P11166	GTR1_HUMAN	S	340;340;282	ENSP00000416293:G340S	ENSP00000361579:G340S	G	-	1	0	0	SLC2A1	43167246	43167246	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.440000	0.80464	2.601000	0.87937	0.650000	0.86243	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1		2	2	2	0		0	0	159		159	153	1	2.060000	-3.297897	1	0.170000	NM_006516			129	125		570	556	1		1	1		0	0	159	0		1	1	0	430	0	316	0	129	570
SLC2A1	6513	broad.mit.edu	37	1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	249					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627																																						ENST00000426263.3	0.980000	0.650000	9.300000e-01	7.400000e-01	0.830000	0.836408	0.830000	0.840000																										0				13	GRCh37	CI056492	SLC2A1	I		c.(745-747)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						142.0	135.0	138.0					1																	43395385		2203	4300	6503	SO:0001583	missense	6513	1	121412	38				g.chr1:43395385C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.746G>A	chr1.hg19:g.43395385C>T	ENSP00000416293:p.Arg249Gln	1					SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	p.R249Q	NM_006516.2	NP_006507.2	0	1	1	1.827221	P11166	GTR1_HUMAN		6	924	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	1	1	hg19	c.746G>A	CCDS477.1	0	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808952	0.16537	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73258	-0.73;-0.73	5.14	4.22	0.49857	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054655	0.64402	D	0.000001	T	0.58736	0.2143	L	0.33137	0.985	0.80722	D	1	B	0.20988	0.05	B	0.14023	0.01	T	0.53005	-0.8499	10	0.27785	T	0.31	.	13.5086	0.61497	0.0:0.8422:0.1578:0.0	.	249	P11166	GTR1_HUMAN	Q	249;249;191;154	ENSP00000416293:R249Q;ENSP00000395521:R154Q	ENSP00000361579:R249Q	R	-	2	0	0	SLC2A1	43167972	43167972	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	2.614000	0.46359	1.152000	0.42452	-0.314000	0.08810	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1		2	2	2	0		0	0	169		169	167	1	2.060000	-3.075755	1	0.170000	NM_006516			62	61		720	704	1		1	1		0	0	169	0		1	1	0	202	0	673	0	62	720
SLC2A1	6513	broad.mit.edu	37	1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	111					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587																																						ENST00000426263.3	1.000000	0.660000	9.800000e-01	7.900000e-01	0.900000	0.892883	0.900000	0.990000																										0				13						c.(331-333)Ggc>Tgc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						77.0	68.0	71.0					1																	43396482		2203	4300	6503	SO:0001583	missense	6513	0	0					g.chr1:43396482C>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.331G>T	chr1.hg19:g.43396482C>A	ENSP00000416293:p.Gly111Cys	1					SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000475162.1_5'UTR	p.G111C	NM_006516.2	NP_006507.2	0	1	1	1.827221	P11166	GTR1_HUMAN		4	509	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	1	1	hg19	c.331G>T	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967324	0.92855	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000415851;ENST00000372500	D;D;D	0.82893	-1.66;-1.66;-1.66	5.51	5.51	0.81932	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.90369	3.11	0.80722	D	1	P	0.47191	0.891	P	0.49597	0.616	D	0.91902	0.5532	10	0.87932	D	0	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	111	P11166	GTR1_HUMAN	C	111;111;16;111;111	ENSP00000416293:G111C;ENSP00000395521:G16C;ENSP00000361578:G111C	ENSP00000361578:G111C	G	-	1	0	0	SLC2A1	43169069	43169069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.581000	0.87130	0.555000	0.69702	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_006516			20	20		150	149	1		1	1		0	0	59	0		9.999966e-01	1	0	210	0	457	0	20	150
TMEM125	128218	broad.mit.edu	37	1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125	176						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632																																						ENST00000432792.2	0.980000	0.450000	9.100000e-01	5.900000e-01	0.750000	0.752788	0.750000	0.780000																										0				3						c.(526-528)tgC>tgA		transmembrane protein 125							55.0	44.0	48.0					1																	43738921		2203	4300	6503	SO:0001587	stop_gained	128218	0	0					g.chr1:43738921C>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.528C>A	chr1.hg19:g.43738921C>A	ENSP00000429275:p.Cys176*	1					TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*	p.C176*			0	1	1	1.827221	Q96AQ2	TM125_HUMAN		4	1098	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	D3DPX1	Nonsense_Mutation	SNP	ENST00000432792.2	0	1	hg19	c.528C>A	CCDS480.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.155432	0.94686	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	.	.	.	5.18	2.29	0.28610	5.18	2.29	0.28610	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4935	0.16789	0.0:0.5731:0.1329:0.294	.	.	.	.	X	176	.	ENSP00000429275:C176X	C	+	3	2	2	TMEM125	43511508	43511508	0.005000	0.15991	0.844000	0.33320	0.131000	0.20780	-0.199000	0.09491	0.205000	0.20568	0.563000	0.77884	TGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-18.730530	1	0.170000	NM_144626			14	14		171	165	0		1	1		0	0	31	0		9.997362e-01	9.557647e-01	0	18	0	49	0	14	171
C1orf210	149466	broad.mit.edu	37	1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	100						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592																																						ENST00000523677.1	0.980000	0.530000	9.100000e-01	6.500000e-01	0.780000	0.782233	0.780000	0.790000																										0				1						c.(298-300)gGc>gTc		chromosome 1 open reading frame 210							89.0	73.0	79.0					1																	43748499		2203	4300	6503	SO:0001583	missense	149466	0	0					g.chr1:43748499C>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.299G>T	chr1.hg19:g.43748499C>A	ENSP00000430918:p.Gly100Val	1					C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	0	1	1	1.827221	Q8IVY1	CA210_HUMAN		3	532	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	1	1	hg19	c.299G>T	CCDS481.1	0	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062315	0.55432	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.46063	0.88;0.88	5.67	3.39	0.38822	5.67	3.39	0.38822	.	0.680689	0.14651	N	0.306584	T	0.27063	0.0663	L	0.29908	0.895	0.29499	N	0.855033	B	0.33171	0.4	B	0.31101	0.124	T	0.19811	-1.0294	10	0.52906	T	0.07	.	5.088	0.14693	0.0:0.6033:0.2052:0.1915	.	100	Q8IVY1	CA210_HUMAN	V	100	ENSP00000430918:G100V;ENSP00000429399:G100V	ENSP00000429399:G100V	G	-	2	0	0	C1orf210	43521086	43521086	0.086000	0.21541	0.099000	0.21106	0.823000	0.46562	1.133000	0.31430	1.344000	0.45657	0.561000	0.74099	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-8.332116	1	0.170000	NM_182517			26	25		318	314	1		1	1		0	0	81	0		9.999999e-01	9.942487e-01	0	32	0	69	0	26	318
TIE1	7075	broad.mit.edu	37	1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	349					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587																																						ENST00000372476.3	1.000000	0.920000	1	9.500000e-01	0.980000	0.982183	0.980000	0.990000																										0				70						c.(1045-1047)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							73.0	61.0	65.0					1																	43774659		2203	4300	6503	SO:0001583	missense	7075	4	121412	36				g.chr1:43774659C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1045C>T	chr1.hg19:g.43774659C>T	ENSP00000361554:p.Arg349Trp	1					TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	p.R349W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	0	1	1	1.827221	P35590	TIE1_HUMAN		8	1124	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	1	1	hg19	c.1045C>T	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000066056	ENST00000372476	T	0.79033	-1.23	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.000000	0.36374	N	0.002635	T	0.68063	0.2960	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27498	0.032;0.18;0.107	B;B;B	0.14578	0.003;0.011;0.007	T	0.65615	-0.6125	10	0.33940	T	0.23	.	11.1624	0.48522	0.0:0.916:0.0:0.084	.	304;349;349	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	W	349	ENSP00000361554:R349W	ENSP00000361554:R349W	R	+	1	2	2	TIE1	43547246	43547246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.396000	0.81511	0.563000	0.77884	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-3.768996	1	0.170000	NM_005424			70	69		261	252	1		1	0		0	0	89	0		1	9.872281e-01	0	0	0	28	0	70	261
TIE1	7075	broad.mit.edu	37	1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	449	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627																																						ENST00000372476.3	1.000000	0.740000	9.800000e-01	8.300000e-01	0.920000	0.912938	0.920000	0.990000																										0				70						c.(1345-1347)Ccc>Tcc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							54.0	59.0	57.0					1																	43777353		2203	4300	6503	SO:0001583	missense	7075	0	0					g.chr1:43777353C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1345C>T	chr1.hg19:g.43777353C>T	ENSP00000361554:p.Pro449Ser	1					TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	p.P449S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	0	1	1	1.827221	P35590	TIE1_HUMAN		10	1424	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	1	1	hg19	c.1345C>T	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144981	0.77888	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.79749	-1.3;0.89	5.03	4.11	0.48088	5.03	4.11	0.48088	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217057	0.23356	N	0.049067	D	0.90304	0.6967	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;0.987;1.0;0.981	D;P;P;D;P	0.91635	0.998;0.75;0.763;0.999;0.873	D	0.91676	0.5354	10	0.72032	D	0.01	.	15.4145	0.74956	0.0:0.8602:0.1398:0.0	.	94;404;449;94;449	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	449;94	ENSP00000361554:P449S;ENSP00000411728:P94S	ENSP00000361554:P449S	P	+	1	0	0	TIE1	43549940	43549940	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.538000	0.53597	1.101000	0.41535	0.563000	0.77884	CCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-16.259910	1	0.170000	NM_005424			52	52		485	479	0		1	0		0	0	86	0		1	9.690838e-01	0	0	0	54	0	52	485
TIE1	7075	broad.mit.edu	37	1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	757					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642																																						ENST00000372476.3	1.000000	0.680000	9.800000e-01	8.100000e-01	0.910000	0.900581	0.910000	0.990000																										0				70						c.(2269-2271)Ctg>Atg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							43.0	44.0	43.0					1																	43779499		2203	4300	6503	SO:0001583	missense	7075	0	0					g.chr1:43779499C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2269C>A	chr1.hg19:g.43779499C>A	ENSP00000361554:p.Leu757Met	1					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	p.L757M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	0	1	1	1.827221	P35590	TIE1_HUMAN		14	2348	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	1	1	hg19	c.2269C>A	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942425	0.34283	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77489	-1.05;-1.1	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.31809	N	0.007030	T	0.63920	0.2552	L	0.29908	0.895	0.29938	N	0.821281	B;B;B;B	0.27351	0.114;0.07;0.07;0.176	B;B;B;B	0.18561	0.022;0.01;0.01;0.017	T	0.60581	-0.7235	10	0.34782	T	0.22	.	9.8246	0.40903	0.1543:0.6966:0.149:0.0	.	402;712;402;757	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	M	757;160;40;402	ENSP00000361554:L757M;ENSP00000411728:L402M	ENSP00000361553:L160M	L	+	1	2	2	TIE1	43552086	43552086	0.948000	0.32251	1.000000	0.80357	0.955000	0.61496	1.931000	0.40134	2.651000	0.90000	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005424			21	21		152	150	1		1	0		0	0	43	0		9.999982e-01	9.217508e-01	0	0	0	34	0	21	152
MED8	112950	broad.mit.edu	37	1	43853238	43853238	+	Missense_Mutation	SNP	G	G	A	rs377550699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	ENST00000372457.4	-	3	249	c.206C>T	c.(205-207)cCg>cTg	p.P69L	MED8_ENST00000290663.6_Missense_Mutation_p.P69L|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000372450.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000372455.4_5'UTR|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	69					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAACAGCGGTGTTTTTTC	0.463																																						ENST00000372457.4	0.950000	0.430000	8.400000e-01	5.500000e-01	0.680000	0.696247	0.680000	0.680000																										0				9						c.(205-207)cCg>cTg		mediator complex subunit 8		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	152.0	147.0	149.0		206,206	5.8	1.0	1		149	0,8600		0,0,4300	no	missense,missense	MED8	NM_052877.3,NM_201542.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	69/302,69/269	43853238	1,13005	2203	4300	6503	SO:0001583	missense	112950	2	121408	33				g.chr1:43853238G>A	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.206C>T	chr1.hg19:g.43853238G>A	ENSP00000361535:p.Pro69Leu	1					SZT2_ENST00000310739.4_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000562955.1_5'Flank|SZT2_ENST00000372450.4_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.P69L	p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	0	1	1	1.827221	Q96G25	MED8_HUMAN		3	249	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	1	1	hg19	c.206C>T	CCDS487.2	0	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043288	0.93685	2.27E-4	0.0	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.83297	-0.0030	9	0.66056	D	0.02	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	69;69	Q96G25;Q96G25-2	MED8_HUMAN;.	L	69	.	ENSP00000290663:P69L	P	-	2	0	0	MED8	43625825	43625825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.619944	1	0.170000	NM_052877			19	19		272	267	0		1	1		0	0	74	0		9.999905e-01	9.999273e-01	0	19	0	210	0	19	272
PTPRF	5792	broad.mit.edu	37	1	44056764	44056764	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000372414.3_Silent_p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				ACCGCGCAGCGGGCACGGAGG	0.612																																						ENST00000359947.4	1.000000	0.940000	1	9.700000e-01	0.980000	0.989966	0.980000	0.990000																										0				72						c.(1069-1071)gcG>gcA		protein tyrosine phosphatase, receptor type, F							73.0	81.0	78.0					1																	44056764		2203	4300	6503	SO:0001819	synonymous_variant	5792	2	121412	37				g.chr1:44056764G>A	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.1071G>A	chr1.hg19:g.44056764G>A		1					PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000372414.3_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000422171.2_5'Flank	p.A357A	NM_002840.3	NP_002831.2	0	1	1	1.827221	P10586	PTPRF_HUMAN		9	1411	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	1	1	hg19	c.1071G>A	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160491|1.160491	0.21454|0.21454	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.48|5.48	-4.51|-4.51	0.03483|0.03483	5.48|5.48	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	T|T	0.45115|0.45115	0.1326|0.1326	.|.	.|.	.|.	0.33155|0.33155	D|D	0.546231|0.546231	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52193|0.52193	-0.8608|-0.8608	4|4	.|.	.|.	.|.	.|.	9.8855|9.8855	0.41260|0.41260	0.634:0.0:0.2527:0.1133|0.634:0.0:0.2527:0.1133	.|.	.|.	.|.	.|.	R|Q	25|14	.|.	.|.	G|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43829351|43829351	43829351|43829351	0.008000|0.008000	0.16893|0.16893	0.036000|0.036000	0.18154|0.18154	0.961000|0.961000	0.63080|0.63080	-0.143000|-0.143000	0.10296|0.10296	-1.210000|-1.210000	0.02627|0.02627	-0.253000|-0.253000	0.11424|0.11424	GGG|CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-2.762532	1	0.170000				123	121		514	508	1		1	1		0	0	113	0		1	1	0	49	0	77	0	123	514
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A	rs373662568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	ENST00000359947.4	+	9	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				GTGCGGGCACGCACGGGAGAA	0.701																																						ENST00000359947.4	1.000000	0.620000	9.800000e-01	7.700000e-01	0.900000	0.881733	0.900000	0.990000																										0				72						c.(1219-1221)cGc>cAc		protein tyrosine phosphatase, receptor type, F		G	HIS/ARG,HIS/ARG	1,4383		0,1,2191	12.0	13.0	13.0		1220,1220	5.5	1.0	1		13	0,8550		0,0,4275	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6466	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	407/1908,407/1899	44056913	1,12933	2192	4275	6467	SO:0001583	missense	5792	4	118776	28				g.chr1:44056913G>A	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.1220G>A	chr1.hg19:g.44056913G>A	ENSP00000353030:p.Arg407His	1					PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000422171.2_5'Flank	p.R407H	NM_002840.3	NP_002831.2	0	1	1	1.827221	P10586	PTPRF_HUMAN		9	1560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	0	1	hg19	c.1220G>A	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.091682|4.091682	0.76756|0.76756	2.28E-4|2.28E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.56776	.|0.44;0.44;0.44;0.44	5.48|5.48	5.48|5.48	0.80851|0.80851	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.34555	.|N	.|0.003863	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.79784	.|0.993;0.835	T|T	0.76130|0.76130	-0.3072|-0.3072	5|10	.|0.66056	.|D	.|0.02	.|.	13.0068|13.0068	0.58710|0.58710	0.0737:0.0:0.9262:0.0|0.0737:0.0:0.9262:0.0	.|.	.|407;407	.|P10586-2;P10586	.|.;PTPRF_HUMAN	T|H	64|407	.|ENSP00000353030:R407H;ENSP00000398822:R407H;ENSP00000361491:R407H;ENSP00000361490:R407H	.|ENSP00000353030:R407H	A|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43829500|43829500	43829500|43829500	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.961000|0.961000	0.63080|0.63080	5.813000|5.813000	0.69201|0.69201	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GCA|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				13	11		79	79	0		1	1		0	0	15	0		9.996146e-01	9.870886e-01	0	15	0	33	0	13	79
PTPRF	5792	broad.mit.edu	37	1	44070974	44070974	+	Silent	SNP	C	C	T	rs563797561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000372414.3_Silent_p.S1083S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1083	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				GTGGCAGCAGCGCAGGGGGCC	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18036	0.001		0.0	False		,,,				2504	0.001					ENST00000359947.4	1.000000	0.730000	9.800000e-01	8.300000e-01	0.910000	0.909526	0.910000	0.990000																										0				72						c.(3247-3249)agC>agT		protein tyrosine phosphatase, receptor type, F							57.0	61.0	59.0					1																	44070974		2203	4300	6503	SO:0001819	synonymous_variant	5792	5	121412	38				g.chr1:44070974C>T	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.3249C>T	chr1.hg19:g.44070974C>T		1					PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000422171.2_Silent_p.S431S	p.S1083S	NM_002840.3	NP_002831.2	0	1	1	1.827221	P10586	PTPRF_HUMAN		18	3589	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	1	1	hg19	c.3249C>T	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052874|1.052874	0.19907|0.19907	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.31|5.31	-5.64|-5.64	0.02466|0.02466	5.31|5.31	-5.64|-5.64	0.02466|0.02466	.|.	.|.	.|.	.|.	.|.	T|T	0.65217|0.65217	0.2670|0.2670	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66905|0.66905	-0.5805|-0.5805	4|4	.|.	.|.	.|.	.|.	16.6775|16.6775	0.85283|0.85283	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|.	.|.	.|.	V|C	729|456;497	.|.	.|.	A|R	+|+	2|1	0|0	0|0	PTPRF|PTPRF	43843561|43843561	43843561|43843561	0.002000|0.002000	0.14202|0.14202	0.437000|0.437000	0.26809|0.26809	0.853000|0.853000	0.48598|0.48598	-1.240000|-1.240000	0.02914|0.02914	-1.139000|-1.139000	0.02881|0.02881	-0.229000|-0.229000	0.12294|0.12294	GCG|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	0		2	10	2	1		1	0	75		75	73	1	2.060000	-3.318794	1	0.170000				43	43		390	387	1		1	1		1	0	75	0		1	9.860281e-01	0	39	0	153	0	43	390
PTPRF	5792	broad.mit.edu	37	1	44071037	44071037	+	Silent	SNP	G	G	A	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000372414.3_Silent_p.P1104P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1104					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)			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)				CTCACAAGCCGCTGCCTGCCT	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.923426	0.930000	0.990000																										0				72						c.(3310-3312)ccG>ccA		protein tyrosine phosphatase, receptor type, F		A	,	1,4405	2.1+/-5.4	0,1,2202	47.0	51.0	50.0		3312,3285	-10.6	0.0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1104/1908,1095/1899	44071037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5792	0	0					g.chr1:44071037G>A	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.3312G>A	chr1.hg19:g.44071037G>A		1					PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000422171.2_Silent_p.P452P	p.P1104P	NM_002840.3	NP_002831.2	0	1	1	1.827221	P10586	PTPRF_HUMAN		18	3652	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	1	1	hg19	c.3312G>A	CCDS489.2	1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.624|1.624	-0.520643|-0.520643	0.04171|0.04171	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	-10.6|-10.6	0.00265|0.00265	5.31|5.31	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	.|.	4.2496|4.2496	0.10688|0.10688	0.5499:0.158:0.1774:0.1148|0.5499:0.158:0.1774:0.1148	.|.	.|.	.|.	.|.	T|H	477;518|750	.|.	.|.	A|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43843624|43843624	43843624|43843624	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.287000|0.287000	0.27160|0.27160	-1.888000|-1.888000	0.01616|0.01616	-2.539000|-2.539000	0.00486|0.00486	-1.290000|-1.290000	0.01357|0.01357	GCT|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	0		2	2	2	0		0	0	69		69	52	1	2.060000	-15.100590	1	0.170000				39	34		317	297	1		1	1		0	0	69	0		1	1	0	47	0	178	0	39	317
PTPRF	5792	broad.mit.edu	37	1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)				CATGGAGCTCGAGTTCAAGGT	0.652																																						ENST00000359947.4	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.946183	0.950000	0.990000																										0				72						c.(4924-4926)Gag>Aag		protein tyrosine phosphatase, receptor type, F							41.0	44.0	43.0					1																	44085236		2203	4299	6502	SO:0001583	missense	5792	0	0					g.chr1:44085236G>A	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.4924G>A	chr1.hg19:g.44085236G>A	ENSP00000353030:p.Glu1642Lys	1					PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K	p.E1642K	NM_002840.3	NP_002831.2	0	1	1	1.827221	P10586	PTPRF_HUMAN		28	5264	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	1	1	hg19	c.4924G>A	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252917|4.252917	0.80135|0.80135	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29;2.29|.	4.87|4.87	4.87|4.87	0.63330|0.63330	4.87|4.87	4.87|4.87	0.63330|0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34750|.	N|.	0.003720|.	D|D	0.88043|0.88043	0.6331|0.6331	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.986;0.995;0.995;0.993;0.996|.	D|D	0.91784|0.91784	0.5438|0.5438	10|5	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1287;1001;1219;1633;1642|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1642;1633;1642;1633;1001;714|1025;1066	ENSP00000353030:E1642K;ENSP00000398822:E1633K;ENSP00000361491:E1642K;ENSP00000361490:E1633K;ENSP00000387885:E1001K;ENSP00000361484:E714K|.	ENSP00000353030:E1642K|.	E|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43857823|43857823	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	1		15	14	2	1		1	1	68		68	68	1	2.060000	-20.000000	1	0.170000				39	38		253	247	1		1	1		1	0	68	0		9.997886e-01	9.997308e-01	0	106	0	161	0	39	253
KDM4A	9682	broad.mit.edu	37	1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	605	Interaction with NCOR1.				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)			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						AAGCTCCCCCGCCATCACCCA	0.478																																						ENST00000372396.3	0.990000	0.610000	9.500000e-01	7.200000e-01	0.840000	0.839613	0.840000	0.880000																										0				37						c.(1813-1815)cGc>cAc		lysine (K)-specific demethylase 4A							105.0	101.0	103.0					1																	44149434		2203	4300	6503	SO:0001583	missense	9682	1	121412	32				g.chr1:44149434G>A	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.1814G>A	chr1.hg19:g.44149434G>A	ENSP00000361473:p.Arg605His	1						p.R605H	NM_014663.2	NP_055478.2	0	1	1	1.827221	O75164	KDM4A_HUMAN		12	1948	+			Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	1	1	hg19	c.1814G>A	CCDS491.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.231546	0.95207	.	.	ENSG00000066135	ENST00000372396	T	0.42131	0.98	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.115168	0.53938	D	0.000054	T	0.61664	0.2365	L	0.55481	1.735	0.49687	D	0.999811	D	0.76494	0.999	D	0.76071	0.987	T	0.59429	-0.7456	10	0.46703	T	0.11	-13.6714	18.988	0.92780	0.0:0.0:1.0:0.0	.	605	O75164	KDM4A_HUMAN	H	605	ENSP00000361473:R605H	ENSP00000361473:R605H	R	+	2	0	0	KDM4A	43922021	43922021	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.224000	0.89781	2.589000	0.87451	0.551000	0.68910	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-3.075755	1	0.170000	NM_014663			32	31		349	335	1		1	1		0	0	84	0		1	9.972598e-01	0	13	0	88	0	32	349
KDM4A	9682	broad.mit.edu	37	1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	921	Tudor 1.				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)			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						GAAGTGGTCAGGCTCACCACC	0.493																																						ENST00000372396.3	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.920272	0.930000	0.990000																										0				37						c.(2761-2763)aGg>aTg		lysine (K)-specific demethylase 4A							122.0	117.0	119.0					1																	44163605		2203	4300	6503	SO:0001583	missense	9682	0	0					g.chr1:44163605G>T	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.2762G>T	chr1.hg19:g.44163605G>T	ENSP00000361473:p.Arg921Met	1					KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	p.R921M	NM_014663.2	NP_055478.2	0	1	1	1.827221	O75164	KDM4A_HUMAN		19	2896	+			Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	1	1	hg19	c.2762G>T	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855743	0.51376	.	.	ENSG00000066135	ENST00000372396	T	0.71698	-0.59	6.08	1.2	0.21068	6.08	1.2	0.21068	Tudor domain (1);	0.358324	0.35772	N	0.002996	T	0.52289	0.1725	N	0.22421	0.69	0.28794	N	0.899132	P	0.35600	0.511	B	0.34824	0.19	T	0.51196	-0.8736	10	0.56958	D	0.05	-12.0289	8.7145	0.34403	0.1434:0.412:0.4446:0.0	.	921	O75164	KDM4A_HUMAN	M	921	ENSP00000361473:R921M	ENSP00000361473:R921M	R	+	2	0	0	KDM4A	43936192	43936192	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.566000	0.45948	0.334000	0.23590	0.655000	0.94253	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-14.815170	1	0.170000	NM_014663			40	39		335	329	1		1	1		0	0	72	0		1	9.969449e-01	0	12	0	64	0	40	335
KDM4A	9682	broad.mit.edu	37	1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	944	Tudor 1.				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)			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						CTTTATCCTGAGGACATAGTG	0.498																																						ENST00000372396.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.981515	0.980000	0.990000																										0				37						c.(2830-2832)gAg>gCg		lysine (K)-specific demethylase 4A							101.0	98.0	99.0					1																	44163674		2203	4300	6503	SO:0001583	missense	9682	0	0					g.chr1:44163674A>C	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.2831A>C	chr1.hg19:g.44163674A>C	ENSP00000361473:p.Glu944Ala	1					KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	p.E944A	NM_014663.2	NP_055478.2	0	1	1	1.827221	O75164	KDM4A_HUMAN		19	2965	+			Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	1	1	hg19	c.2831A>C	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.263999	0.95399	.	.	ENSG00000066135	ENST00000372396	T	0.20598	2.06	6.08	6.08	0.98989	6.08	6.08	0.98989	Tudor domain (1);	0.043479	0.85682	D	0.000000	T	0.32224	0.0822	M	0.80982	2.52	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.31081	-0.9956	10	0.66056	D	0.02	-26.9569	16.6438	0.85155	1.0:0.0:0.0:0.0	.	944	O75164	KDM4A_HUMAN	A	944	ENSP00000361473:E944A	ENSP00000361473:E944A	E	+	2	0	0	KDM4A	43936261	43936261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_014663			66	66		235	232	1		1	1		0	0	62	0		1	9.999996e-01	0	28	0	53	0	66	235
KLF17	128209	broad.mit.edu	37	1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	59					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547																																						ENST00000372299.3	1.000000	0.740000	9.800000e-01	8.400000e-01	0.920000	0.919044	0.920000	0.990000																										0				18						c.(175-177)caG>caT		Kruppel-like factor 17							93.0	80.0	85.0					1																	44595120		2203	4300	6503	SO:0001583	missense	128209	0	0					g.chr1:44595120G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.177G>T	chr1.hg19:g.44595120G>T	ENSP00000361373:p.Gln59His	1					KLF17_ENST00000476802.1_3'UTR	p.Q59H	NM_173484.3	NP_775755.3	0	1	1	1.827221	Q5JT82	KLF17_HUMAN		2	235	+	Acute lymphoblastic leukemia(166;0.155)		Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	1	1	hg19	c.177G>T	CCDS508.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865481	0.51588	.	.	ENSG00000171872	ENST00000372299	T	0.10573	2.86	4.58	-5.08	0.02929	4.58	-5.08	0.02929	.	0.272363	0.26638	N	0.023272	T	0.05640	0.0148	L	0.34521	1.04	0.09310	N	1	B	0.34290	0.447	B	0.30179	0.112	T	0.13764	-1.0497	10	0.56958	D	0.05	.	6.6062	0.22726	0.2676:0.2857:0.4468:0.0	.	59	Q5JT82	KLF17_HUMAN	H	59	ENSP00000361373:Q59H	ENSP00000361373:Q59H	Q	+	3	2	2	KLF17	44367707	44367707	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.393000	0.07305	-1.037000	0.03283	-0.781000	0.03364	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_173484			42	41		360	347	1		1			0	0	74	0		1	0	0	0	0	0	0	42	360
KLF17	128209	broad.mit.edu	37	1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A	rs200292026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	256					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557																																						ENST00000372299.3	1.000000	0.710000	9.800000e-01	8.200000e-01	0.910000	0.903879	0.910000	0.990000																										0				18						c.(766-768)Gga>Aga		Kruppel-like factor 17		A	ARG/GLY	0,4406		0,0,2203	54.0	58.0	57.0		766	-0.4	0.0	1		57	1,8599	818.0+/-406.9	0,1,4299	no	missense	KLF17	NM_173484.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	256/390	44595709	1,13005	2203	4300	6503	SO:0001583	missense	128209	13	121412	44				g.chr1:44595709G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.766G>A	chr1.hg19:g.44595709G>A	ENSP00000361373:p.Gly256Arg	1					KLF17_ENST00000476802.1_3'UTR	p.G256R	NM_173484.3	NP_775755.3	0	1	1	1.827221	Q5JT82	KLF17_HUMAN		2	824	+	Acute lymphoblastic leukemia(166;0.155)		Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	1	1	hg19	c.766G>A	CCDS508.1	1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044501	0.08196	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.65	-0.406	0.12389	4.65	-0.406	0.12389	.	1.149600	0.06340	N	0.707762	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	.	3.4088	0.07351	0.4837:0.0:0.1661:0.3502	.	256	Q5JT82	KLF17_HUMAN	R	256	ENSP00000361373:G256R	ENSP00000361373:G256R	G	+	1	0	0	KLF17	44368296	44368296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.802000	0.04545	-0.325000	0.08577	-0.381000	0.06696	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-2.879461	1	0.170000	NM_173484			36	36		320	312	1		1	0		0	0	87	0		1	0	0	0	0	1	0	36	320
DMAP1	55929	broad.mit.edu	37	1	44684367	44684367	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	220					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372289.2	1.000000	0.930000	1	9.600000e-01	0.980000	0.986413	0.980000	0.990000																										0				16						c.(658-660)gcT>gcC		DNA methyltransferase 1 associated protein 1							120.0	114.0	116.0					1																	44684367		2203	4300	6503	SO:0001819	synonymous_variant	55929	0	0					g.chr1:44684367T>C	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.660T>C	chr1.hg19:g.44684367T>C		1		OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000361745.6_Silent_p.A220A|DMAP1_ENST00000488433.1_3'UTR	p.A220A	NM_019100.4	NP_061973.1	0	1	1	1.827221	Q9NPF5	DMAP1_HUMAN		5	923	+	Acute lymphoblastic leukemia(166;0.155)		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	1	1	hg19	c.660T>C	CCDS509.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_019100			85	86		294	283	1		1	1		0	0	94	0		1	9.999996e-01	0	20	0	56	0	85	294
RNF220	55182	broad.mit.edu	37	1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR|RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*			Q5VTB9	RN220_HUMAN	ring finger protein 220	227					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592																																						ENST00000355387.2	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.918705	0.920000	0.990000																										0				29						c.(679-681)tgC>tgA		ring finger protein 220							94.0	90.0	91.0					1																	45079892		2203	4300	6503	SO:0001587	stop_gained	55182	0	0					g.chr1:45079892C>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.681C>A	chr1.hg19:g.45079892C>A	ENSP00000347548:p.Cys227*	1					RNF220_ENST00000443020.2_5'UTR|RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*	p.C227*			0	1	1	1.827221	Q5VTB9	RN220_HUMAN		3	1131	+			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	ENST00000355387.2	0	1	hg19	c.681C>A	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.960329	0.97145	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.14	1.22	0.21188	5.14	1.22	0.21188	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1671	0.20396	0.1204:0.6103:0.0:0.2693	.	.	.	.	X	227	.	ENSP00000347548:C227X	C	+	3	2	2	RNF220	44852479	44852479	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.174000	0.42482	0.072000	0.16694	-0.145000	0.13849	TGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-16.783390	1	0.170000	NM_018150			54	54		495	484	1		1			0	0	109	0		1	0	0	0	0	0	0	54	495
RNF220	55182	broad.mit.edu	37	1	45111149	45111149	+	Silent	SNP	C	C	T	rs569107205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000372247.2_Silent_p.S478S|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	478					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21947	0.0		0.0	False		,,,				2504	0.001					ENST00000355387.2	1.000000	0.700000	9.800000e-01	8.200000e-01	0.920000	0.910701	0.920000	0.990000																										0				29						c.(1432-1434)agC>agT		ring finger protein 220							112.0	95.0	100.0					1																	45111149		2203	4300	6503	SO:0001819	synonymous_variant	55182	0	0					g.chr1:45111149C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1434C>T	chr1.hg19:g.45111149C>T		1					TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000372247.2_Silent_p.S478S|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron	p.S478S			0	1	1	1.827221	Q5VTB9	RN220_HUMAN		12	1884	+			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	1	1	hg19	c.1434C>T	CCDS510.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_018150			22	22		149	145	1		1	1		0	0	53	0		9.999990e-01	1	0	71	0	211	0	22	149
BEST4	266675	broad.mit.edu	37	1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	rs16832247	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	10						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572																																						ENST00000372207.3	0.990000	0.650000	9.500000e-01	7.500000e-01	0.850000	0.854426	0.850000	0.890000																										0				7						c.(28-30)gCg>gTg		bestrophin 4							53.0	63.0	59.0					1																	45253349		2203	4300	6503	SO:0001583	missense	266675	1	121412	30				g.chr1:45253349G>A	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.29C>T	chr1.hg19:g.45253349G>A	ENSP00000361281:p.Ala10Val	1						p.A10V	NM_153274.2	NP_695006.1	0	1	1	1.827221	Q8NFU0	BEST4_HUMAN		1	28	-	Acute lymphoblastic leukemia(166;0.155)		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	1	1	hg19	c.29C>T	CCDS514.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980682	0.74474	.	.	ENSG00000142959	ENST00000372207	D	0.98732	-5.1	4.68	2.79	0.32731	4.68	2.79	0.32731	.	0.187640	0.45126	N	0.000399	D	0.99158	0.9709	H	0.94925	3.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.98974	1.0802	10	0.87932	D	0	-3.1961	7.1703	0.25715	0.0913:0.0:0.7384:0.1704	rs16832247;rs16832247	10	Q8NFU0	BEST4_HUMAN	V	10	ENSP00000361281:A10V	ENSP00000361281:A10V	A	-	2	0	0	BEST4	45025936	45025936	1.000000	0.71417	0.448000	0.26945	0.612000	0.37316	7.800000	0.85949	0.570000	0.29347	0.655000	0.94253	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	1	0	1		2	2	2	0		0	0	91		91	88	1	2.060000	-3.142702	1	0.170000	NM_153274			44	44		480	466	0		1	0		0	0	91	0		1	0	0	0	0	1	0	44	480
PLK3	1263	broad.mit.edu	37	1	45268516	45268516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	ENST00000372201.4	+	6	977	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TATGGTCACTGGGCTGTGTCA	0.607																																						ENST00000372201.4	0.480000	0.130000	3.800000e-01	1.900000e-01	0.270000	0.293257	0.270000	0.270000																										0				19						c.(736-738)ctG>ctA		polo-like kinase 3							85.0	86.0	86.0					1																	45268516		2203	4300	6503	SO:0001819	synonymous_variant	1263	0	0					g.chr1:45268516G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.738G>A	chr1.hg19:g.45268516G>A		1					PLK3_ENST00000465443.1_3'UTR	p.L246L	NM_004073.2	NP_004064.2	0	1	1	1.827221	Q9H4B4	PLK3_HUMAN		6	977	+	Acute lymphoblastic leukemia(166;0.155)		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	0	1	hg19	c.738G>A	CCDS515.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	0	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-2.720374	1	0.170000	NM_004073			9	9		346	335	0		1	1		0	0	69	0		9.934946e-01	6.109569e-01	0	5	0	72	0	9	346
PLK3	1263	broad.mit.edu	37	1	45270982	45270982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	560					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592																																						ENST00000372201.4	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.900092	0.910000	0.990000																										0				19						c.(1678-1680)ccG>ccA		polo-like kinase 3							175.0	137.0	150.0					1																	45270982		2203	4300	6503	SO:0001819	synonymous_variant	1263	0	0					g.chr1:45270982G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1680G>A	chr1.hg19:g.45270982G>A		1					PLK3_ENST00000465443.1_3'UTR	p.P560P	NM_004073.2	NP_004064.2	0	1	1	1.827221	Q9H4B4	PLK3_HUMAN		14	1919	+	Acute lymphoblastic leukemia(166;0.155)		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	1	1	hg19	c.1680G>A	CCDS515.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	1	0	0		2	2	2	0		0	0	76		76	74	1	2.060000	-12.849460	1	0.170000	NM_004073			36	36		326	322	1		1	1		0	0	76	0		1	9.986349e-01	0	16	0	77	0	36	326
PLK3	1263	broad.mit.edu	37	1	45271006	45271006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	568	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602																																						ENST00000372201.4	1.000000	0.940000	1	9.600000e-01	0.980000	0.987534	0.980000	0.990000																										0				19						c.(1702-1704)aaG>aaA		polo-like kinase 3							184.0	143.0	157.0					1																	45271006		2203	4300	6503	SO:0001819	synonymous_variant	1263	0	0					g.chr1:45271006G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1704G>A	chr1.hg19:g.45271006G>A		1					PLK3_ENST00000465443.1_3'UTR	p.K568K	NM_004073.2	NP_004064.2	0	1	1	1.827221	Q9H4B4	PLK3_HUMAN		14	1943	+	Acute lymphoblastic leukemia(166;0.155)		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	1	1	hg19	c.1704G>A	CCDS515.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_004073			93	91		332	328	1		1	1		0	0	92	0		1	9.999999e-01	0	31	0	55	0	93	332
TCTEX1D4	343521	broad.mit.edu	37	1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T	rs571986288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000339355.2	-	1	595	c.589G>A	c.(589-591)Gat>Aat	p.D197N	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	197						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672																																						ENST00000339355.2	0.990000	0.450000	9.300000e-01	6.100000e-01	0.780000	0.776449	0.780000	0.860000																										0				1						c.(589-591)Gat>Aat		Tctex1 domain containing 4							16.0	19.0	18.0					1																	45271752		2202	4297	6499	SO:0001583	missense	343521	2	120986	35				g.chr1:45271752C>T	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.589G>A	chr1.hg19:g.45271752C>T	ENSP00000341803:p.Asp197Asn	1					TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000453418.1_5'Flank	p.D197N			0	1	1	1.827221	Q5JR98	TC1D4_HUMAN		1	595	-	Acute lymphoblastic leukemia(166;0.155)			Missense_Mutation	SNP	ENST00000339355.2	0	1	hg19	c.589G>A	CCDS30699.1	0	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794210	0.70452	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	D	0.88081	0.6341	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90925	0.4786	10	0.87932	D	0	-5.9617	15.9529	0.79859	0.0:1.0:0.0:0.0	.	197	Q5JR98	TC1D4_HUMAN	N	197	ENSP00000341803:D197N;ENSP00000361274:D197N	ENSP00000341803:D197N	D	-	1	0	0	TCTEX1D4	45044339	45044339	0.999000	0.42202	0.156000	0.22583	0.084000	0.17831	5.615000	0.67702	2.540000	0.85666	0.555000	0.69702	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-17.178020	1	0.170000	NM_001013632			11	11		118	117	0		1	0		0	0	17	0		9.985094e-01	0	0	0	0	1	0	11	118
PTCH2	8643	broad.mit.edu	37	1	45292982	45292982	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000372192.3	-	16	2502		c.e16-1		PTCH2_ENST00000447098.2_Splice_Site	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2						epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642									Basal Cell Nevus syndrome																													ENST00000372192.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.989695	0.980000	0.990000																										0				50						c.e16-1		patched 2							56.0	62.0	60.0					1																	45292982		2203	4300	6503	SO:0001630	splice_region_variant	8643	0	0		Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	g.chr1:45292982C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2372-1G>T	chr1.hg19:g.45292982C>A		1					PTCH2_ENST00000447098.2_Splice_Site		NM_003738.4	NP_003729.3	0	1	1	1.827221	Q9Y6C5	PTC2_HUMAN		16	2502	-	Acute lymphoblastic leukemia(166;0.155)		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Splice_Site	SNP	ENST00000372192.3	1	1	hg19		CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725120	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.85	4.85	0.62838	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PTCH2	45065569	45065569	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	5.634000	0.67833	2.402000	0.81655	0.557000	0.71058	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-4.835462	1	0.170000	NM_003738	Intron		103	103		330	327	1		1	0		0	0	81	0		1	0	0	0	0	1	0	103	330
PTCH2	8643	broad.mit.edu	37	1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000372192.3	-	14	1945	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	605					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622									Basal Cell Nevus syndrome																													ENST00000372192.3	1.000000	0.730000	9.800000e-01	8.300000e-01	0.910000	0.908453	0.910000	0.990000																										0				50						c.(1813-1815)caC>caA		patched 2							84.0	92.0	89.0					1																	45293758		2203	4300	6503	SO:0001583	missense	8643	0	0		Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	g.chr1:45293758G>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1815C>A	chr1.hg19:g.45293758G>T	ENSP00000361266:p.His605Gln	1					PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	p.H605Q	NM_003738.4	NP_003729.3	0	1	1	1.827221	Q9Y6C5	PTC2_HUMAN		14	1945	-	Acute lymphoblastic leukemia(166;0.155)		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	1	1	hg19	c.1815C>A	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957861	0.18507	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91843	-2.92;-2.92	4.76	-0.0199	0.13958	4.76	-0.0199	0.13958	.	0.282191	0.25587	N	0.029644	T	0.72581	0.3478	N	0.02368	-0.58	0.33946	D	0.643859	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.61936	-0.6960	10	0.15499	T	0.54	-32.9926	3.0358	0.06122	0.0915:0.3089:0.3805:0.219	.	605;605	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	605	ENSP00000389703:H605Q;ENSP00000361266:H605Q	ENSP00000361266:H605Q	H	-	3	2	2	PTCH2	45066345	45066345	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	1.811000	0.38942	0.402000	0.25451	0.557000	0.71058	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	0	0	1		16	2	2	1		1	1	112		112	111	1	2.060000	-15.493320	1	0.170000	NM_003738			49	49		460	450	0		1	0		1	0	112	0		9.999938e-01	4.029017e-01	0	0	0	14	0	49	460
PTCH2	8643	broad.mit.edu	37	1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000372192.3	-	2	225	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	32					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537									Basal Cell Nevus syndrome																													ENST00000372192.3	1.000000	0.920000	1	9.600000e-01	0.980000	0.982833	0.980000	0.990000																										0				50						c.(94-96)gCt>gTt		patched 2							83.0	86.0	85.0					1																	45307689		2203	4300	6503	SO:0001583	missense	8643	0	0		Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	g.chr1:45307689G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.95C>T	chr1.hg19:g.45307689G>A	ENSP00000361266:p.Ala32Val	1					PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	p.A32V	NM_003738.4	NP_003729.3	0	1	1	1.827221	Q9Y6C5	PTC2_HUMAN		2	225	-	Acute lymphoblastic leukemia(166;0.155)		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	1	1	hg19	c.95C>T	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002097	0.93227	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	T	0.81437	0.4822	L	0.51422	1.61	0.52501	D	0.999955	P	0.38788	0.647	B	0.41946	0.371	T	0.81829	-0.0753	10	0.40728	T	0.16	-6.674	16.0996	0.81163	0.0:0.0:1.0:0.0	.	32	Q9Y6C5	PTC2_HUMAN	V	32	ENSP00000389703:A32V;ENSP00000361266:A32V	ENSP00000361266:A32V	A	-	2	0	0	PTCH2	45080276	45080276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.325000	0.78763	0.561000	0.74099	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_003738			80	80		347	342	1		1	0		0	0	129	0		1	0	0	0	0	1	0	80	347
EIF2B3	8891	broad.mit.edu	37	1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	386					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ATTGGTAATAGTCACTCTATC	0.453																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2	0.560000	0.220000	4.700000e-01	2.900000e-01	0.370000	0.385996	0.370000	0.370000																										0				17						c.(1156-1158)aCt>aTt		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							176.0	164.0	168.0					1																	45340395		2203	4300	6503	SO:0001583	missense	8891	0	0					g.chr1:45340395G>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1157C>T	chr1.hg19:g.45340395G>A	ENSP00000353575:p.Thr386Ile	1					EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	0	1	1	1.827221	Q9NR50	EI2BG_HUMAN		10	1283	-	Acute lymphoblastic leukemia(166;0.155)		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	1	1	hg19	c.1157C>T	CCDS517.1	0	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863932	0.51482	.	.	ENSG00000070785	ENST00000360403;ENST00000372183	T;D	0.93906	0.53;-3.31	5.52	3.46	0.39613	5.52	3.46	0.39613	.	0.392077	0.30126	N	0.010343	D	0.89860	0.6837	L	0.42008	1.315	0.27819	N	0.941852	B;B;B	0.22541	0.001;0.071;0.001	B;B;B	0.27608	0.009;0.081;0.004	D	0.83820	0.0246	10	0.46703	T	0.11	-0.8284	11.9317	0.52849	0.0:0.0:0.4066:0.5933	.	386;386;386	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	386	ENSP00000353575:T386I;ENSP00000361257:T386I	ENSP00000353575:T386I	T	-	2	0	0	EIF2B3	45112982	45112982	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.955000	0.56715	1.312000	0.45043	0.655000	0.94253	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-3.788882	1	0.170000	NM_020365			17	15		473	465	0		1	1		0	0	116	0		9.999598e-01	8.032433e-01	0	8	0	78	0	17	473
HECTD3	79654	broad.mit.edu	37	1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	710	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)			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)					TCCTTGCTCTCCTCTAGCCGT	0.602																																						ENST00000372172.4	0.870000	0.440000	7.600000e-01	5.400000e-01	0.640000	0.656235	0.640000	0.640000																										0				28						c.(2128-2130)Gag>Tag		HECT domain containing E3 ubiquitin protein ligase 3							129.0	132.0	131.0					1																	45470286		2073	4210	6283	SO:0001587	stop_gained	79654	0	0					g.chr1:45470286C>A	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.2128G>T	chr1.hg19:g.45470286C>A	ENSP00000361245:p.Glu710*	1					HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	p.E710*	NM_024602.5	NP_078878.3	0	1	1	1.827221	Q5T447	HECD3_HUMAN		16	2199	-	Acute lymphoblastic leukemia(166;0.155)		B3KPV7|B3KRH4|Q5T448|Q9H783	Nonsense_Mutation	SNP	ENST00000372172.4	0	1	hg19	c.2128G>T	CCDS41318.1	0	.	.	.	.	.	.	.	.	.	.	.	39	7.810838	0.98501	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.046750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0867	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	710;320	.	ENSP00000361241:E320X	E	-	1	0	0	HECTD3	45242873	45242873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.316000	0.79007	2.735000	0.93741	0.549000	0.68633	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	0	0	1		16	6	2	1		1	1	112		112	110	1	2.060000	-3.318747	1	0.170000	NM_024602			31	30		481	466	0		1	0		1	0	112	0		9.890285e-01	7.607714e-01	0	3	0	120	0	31	481
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T	rs375662782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		23405	0.0		0.0	False		,,,				2504	0.0					ENST00000359600.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.989049	0.980000	0.990000																										1	Substitution - Missense(1)	p.R1005H(1)	large_intestine(1)	28						c.(3013-3015)cGc>cAc		zinc finger, SWIM-type containing 5		C	HIS/ARG	1,4237		0,1,2118	75.0	75.0	75.0		3014	4.7	1.0	1		75	0,8476		0,0,4238	no	missense	ZSWIM5	NM_020883.1	29	0,1,6356	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	1005/1186	45484670	1,12713	2119	4238	6357	SO:0001583	missense	57643	3	121106	37				g.chr1:45484670C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3014G>A	chr1.hg19:g.45484670C>T	ENSP00000352614:p.Arg1005His	1		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.R1005H	NM_020883.1	NP_065934.1	0	1	1	1.827221	Q9P217	ZSWM5_HUMAN		14	3219	-	Acute lymphoblastic leukemia(166;0.155)		Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	1	1	hg19	c.3014G>A	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	0	ZSWIM5	45257257	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	XM_046581			98	94		314	312	1		1	0		0	0	93	0		1	3.443768e-01	0	1	0	4	0	98	314
ZSWIM5	57643	broad.mit.edu	37	1	45504624	45504624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	626						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552																																						ENST00000359600.5	0.990000	0.500000	9.200000e-01	6.400000e-01	0.780000	0.783566	0.780000	0.820000																										0				28						c.(1876-1878)ggC>ggA		zinc finger, SWIM-type containing 5							51.0	52.0	52.0					1																	45504624		1988	4174	6162	SO:0001819	synonymous_variant	57643	0	0					g.chr1:45504624G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1878C>A	chr1.hg19:g.45504624G>T		1						p.G626G	NM_020883.1	NP_065934.1	0	1	1	1.827221	Q9P217	ZSWM5_HUMAN		8	2083	-	Acute lymphoblastic leukemia(166;0.155)		Q5SXQ9	Silent	SNP	ENST00000359600.5	1	1	hg19	c.1878C>A	CCDS41319.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.999700	1	0.170000	XM_046581			18	18		210	204	0		1	0		0	0	57	0		9.999812e-01	5.900247e-02	0	0	0	5	0	18	210
ZSWIM5	57643	broad.mit.edu	37	1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	303						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378																																						ENST00000359600.5	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.938868	0.940000	0.990000																										0				28						c.(907-909)Gca>Aca		zinc finger, SWIM-type containing 5							144.0	135.0	138.0					1																	45553598		1855	4097	5952	SO:0001583	missense	57643	0	0					g.chr1:45553598C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.907G>A	chr1.hg19:g.45553598C>T	ENSP00000352614:p.Ala303Thr	1					ZSWIM5_ENST00000464588.1_5'Flank	p.A303T	NM_020883.1	NP_065934.1	0	1	1	1.827221	Q9P217	ZSWM5_HUMAN		2	1112	-	Acute lymphoblastic leukemia(166;0.155)		Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	1	1	hg19	c.907G>A	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.209779	0.95069	.	.	ENSG00000162415	ENST00000359600	T	0.21361	2.01	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54944	-0.8217	10	0.52906	T	0.07	-8.6546	18.0844	0.89453	0.0:1.0:0.0:0.0	.	303	Q9P217	ZSWM5_HUMAN	T	303	ENSP00000352614:A303T	ENSP00000352614:A303T	A	-	1	0	0	ZSWIM5	45326185	45326185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.563000	0.77884	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-19.920590	1	0.170000	XM_046581			67	65		582	566	1		1	0		0	0	114	0		1	1.235485e-01	0	0	0	6	0	67	582
TOE1	114034	broad.mit.edu	37	1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372104.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000448481.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	73						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557																																						ENST00000372090.5	1.000000	0.890000	1	9.400000e-01	0.970000	0.975712	0.970000	0.990000																										0				11						c.(217-219)aGg>aTg		target of EGR1, member 1 (nuclear)							83.0	84.0	83.0					1																	45806997		2203	4300	6503	SO:0001583	missense	114034	0	0					g.chr1:45806997G>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.218G>T	chr1.hg19:g.45806997G>T	ENSP00000361162:p.Arg73Met	1					MUTYH_ENST00000531105.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000529984.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank	p.R73M	NM_025077.3	NP_079353.3	0	1	1	1.827221	Q96GM8	TOE1_HUMAN		3	801	+	Acute lymphoblastic leukemia(166;0.155)		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	1	1	hg19	c.218G>T	CCDS521.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070978|5.070978	0.93950|0.93950	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000539779|ENST00000372090	T|T	0.30448|0.24723	1.53|1.84	5.61|5.61	5.61|5.61	0.85477|0.85477	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ribonuclease H-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.81682|0.81682	2.555|2.555	0.38079|0.38079	D|D	0.936615|0.936615	P|D;D	0.50819|0.89917	0.939|1.0;1.0	P|D;D	0.57548|0.97110	0.823|1.0;0.998	T|T	0.62338|0.62338	-0.6875|-0.6875	9|10	0.87932|0.72032	D|D	0|0.01	-20.7764|-20.7764	19.5968|19.5968	0.95544|0.95544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|79;73	B4DEM6|B4DP23;Q96GM8	.|.;TOE1_HUMAN	H|M	25|73	ENSP00000438900:Q25H|ENSP00000361162:R73M	ENSP00000438900:Q25H|ENSP00000361162:R73M	Q|R	+|+	3|2	2|0	2|0	TOE1|TOE1	45579584|45579584	45579584|45579584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.669000|8.669000	0.91163|0.91163	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.001334	1	0.170000	NM_025077			61	60		281	277	1		1	1		0	0	62	0		1	9.964370e-01	0	18	0	24	0	61	281
TESK2	10420	broad.mit.edu	37	1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T	rs373750301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	374					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557																																						ENST00000372086.3	0.990000	0.590000	9.500000e-01	7.200000e-01	0.840000	0.837892	0.840000	0.900000																										0				32						c.(1120-1122)cGt>cAt		testis-specific kinase 2		C	HIS/ARG	8,3988		0,8,1990	54.0	55.0	55.0		1121	-4.9	0.1	1		55	0,8294		0,0,4147	yes	missense	TESK2	NM_007170.2	29	0,8,6137	TT,TC,CC		0.0,0.2002,0.0651	benign	374/572	45811107	8,12282	1998	4147	6145	SO:0001583	missense	10420	18	120936	43				g.chr1:45811107C>T	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1121G>A	chr1.hg19:g.45811107C>T	ENSP00000361158:p.Arg374His	1					TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H	p.R374H	NM_007170.2	NP_009101.2	0	1	1	1.827221	Q96S53	TESK2_HUMAN		11	1521	-	Acute lymphoblastic leukemia(166;0.155)		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	1	1	hg19	c.1121G>A	CCDS41323.1	0	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188162	0.09547	0.002002	0.0	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76316	-0.91;-0.75;-0.91;-1.01	5.96	-4.89	0.03103	5.96	-4.89	0.03103	.	0.861689	0.10499	N	0.667433	T	0.64549	0.2608	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.16603	0.018;0.005	B;B	0.11329	0.006;0.002	T	0.46707	-0.9172	10	0.30854	T	0.27	1.9518	14.1925	0.65646	0.0:0.443:0.0:0.557	.	345;374	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	345;374;358;345;291	ENSP00000361156:R345H;ENSP00000361158:R374H;ENSP00000343940:R345H;ENSP00000441746:R291H	ENSP00000343940:R345H	R	-	2	0	0	TESK2	45583694	45583694	0.999000	0.42202	0.070000	0.20053	0.149000	0.21700	0.757000	0.26433	-0.828000	0.04273	-0.136000	0.14681	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-2.879461	1	0.170000	NM_007170			26	25		276	271	0		1	0		0	0	39	0		9.999999e-01	2.558206e-01	0	0	0	11	0	26	276
PRDX1	5052	broad.mit.edu	37	1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	185					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498																																						ENST00000262746.1	1.000000	0.960000	1	9.800000e-01	0.990000	0.994342	0.990000	1.000000																										0				12						c.(553-555)aaG>aaT		peroxiredoxin 1							199.0	205.0	203.0					1																	45977046		2203	4300	6503	SO:0001583	missense	5052	0	0					g.chr1:45977046C>A	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.555G>T	chr1.hg19:g.45977046C>A	ENSP00000262746:p.Lys185Asn	1					PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	0	1	1	1.827221	Q06830	PRDX1_HUMAN		6	894	-	Acute lymphoblastic leukemia(166;0.155)		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	1	1	hg19	c.555G>T	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006155	0.74932	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.34072	1.38;1.38;1.38	5.04	3.15	0.36227	5.04	3.15	0.36227	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.120922	0.56097	D	0.000025	T	0.43166	0.1235	M	0.84433	2.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.22601	0.04	T	0.49844	-0.8896	10	0.62326	D	0.03	-6.1472	11.6022	0.51010	0.0:0.8526:0.0:0.1474	.	185	Q06830	PRDX1_HUMAN	N	185;185;83	ENSP00000262746:K185N;ENSP00000361152:K185N;ENSP00000361150:K83N	ENSP00000262746:K185N	K	-	3	2	2	PRDX1	45749633	45749633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.067000	0.30616	1.131000	0.42111	-0.379000	0.06801	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	1	0	1		2	2	2	0		0	0	285		285	283	1	2.060000	-20.000000	1	0.170000	NM_181697			211	210		983	971	1		1	1		0	0	285	0		1	1	0	1042	0	1546	0	211	983
NASP	4678	broad.mit.edu	37	1	46083795	46083795	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000372052.4_Silent_p.V417V|CCDC17_ENST00000464739.1_5'Flank	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	783					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483																																						ENST00000350030.3	1.000000	0.620000	9.800000e-01	7.800000e-01	0.900000	0.887850	0.900000	0.990000																										0				17						c.(2347-2349)gtT>gtC		nuclear autoantigenic sperm protein (histone-binding)							40.0	38.0	38.0					1																	46083795		2203	4299	6502	SO:0001819	synonymous_variant	4678	0	0					g.chr1:46083795T>C	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2349T>C	chr1.hg19:g.46083795T>C		1					NASP_ENST00000372052.4_Silent_p.V417V|CCDC17_ENST00000464739.1_5'Flank|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Silent_p.V444V	p.V783V	NM_002482.3	NP_002473.2	0	1	1	1.827221	P49321	NASP_HUMAN		15	2436	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	0	1	hg19	c.2349T>C	CCDS524.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.621|9.621	1.133752|1.133752	0.21123|0.21123	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000534450	.|.	.|.	.|.	5.27|5.27	2.62|2.62	0.31277|0.31277	5.27|5.27	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.54013|.	0.1832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48007|.	-0.9072|.	4|.	.|.	.|.	.|.	-2.7206|-2.7206	5.8944|5.8944	0.18931|0.18931	0.1872:0.0834:0.0:0.7294|0.1872:0.0834:0.0:0.7294	.|.	.|.	.|.	.|.	S|R	283|170	.|.	.|.	L|X	+|+	2|1	0|0	0|0	NASP|NASP	45856382|45856382	45856382|45856382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.149000|1.149000	0.31626|0.31626	0.954000|0.954000	0.37851|0.37851	0.460000|0.460000	0.39030|0.39030	TTG|TGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.912530	1	0.170000	NM_002482			10	10		38	38	0		1	1		0	0	8	0		9.979087e-01	9.999999e-01	0	32	0	162	0	10	38
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R227*(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)					AAAGGGAATCGAATTGGGTCT	0.353																																						ENST00000396478.3	1.000000	0.900000	1	9.400000e-01	0.970000	0.977138	0.970000	0.990000																										1	Substitution - Nonsense(1)	p.R227*(1)	large_intestine(1)	20						c.(679-681)Cga>Tga		intracisternal A particle-promoted polypeptide							170.0	168.0	168.0					1																	46206618		2203	4300	6503	SO:0001587	stop_gained	3652	0	0					g.chr1:46206618G>A	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.679C>T	chr1.hg19:g.46206618G>A	ENSP00000379739:p.Arg227*	1						p.R227*	NM_005897.2	NP_005888.1	0	1	1	1.827221	Q9Y573	IPP_HUMAN		3	781	-	Acute lymphoblastic leukemia(166;0.155)		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	0	1	hg19	c.679C>T	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	2	IPP	45979205	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_005897			66	64		312	304	1		1	1		0	0	98	0		1	9.699979e-01	0	5	0	24	0	66	312
MAST2	23139	broad.mit.edu	37	1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522																																						ENST00000361297.2	1.000000	0.830000	1	9.100000e-01	0.960000	0.957565	0.960000	0.990000																										0				11						c.(1771-1773)Tac>Cac		microtubule associated serine/threonine kinase 2							78.0	73.0	75.0					1																	46489643		2202	4300	6502	SO:0001583	missense	23139	0	0					g.chr1:46489643T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1771T>C	chr1.hg19:g.46489643T>C	ENSP00000354671:p.Tyr591His	1					MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	p.Y591H	NM_015112.2	NP_055927.2	0	1	1	1.827221				15	2054	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)			Missense_Mutation	SNP	ENST00000361297.2	1	1	hg19	c.1771T>C	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865492	0.91511	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.32753	1.44;1.44;1.44	5.48	5.48	0.80851	5.48	5.48	0.80851	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	0.59004	0.2162	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.991;0.996;0.999;0.998	T	0.64791	-0.6324	10	0.87932	D	0	-11.6789	15.8795	0.79193	0.0:0.0:0.0:1.0	.	265;521;265;521;591	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	591;521;265;476	ENSP00000354671:Y591H;ENSP00000361079:Y521H;ENSP00000361078:Y476H	ENSP00000354671:Y591H	Y	+	1	0	0	MAST2	46262230	46262230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.221000	0.72209	0.454000	0.30748	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_015112			38	38		193	193	1		1	1		0	0	58	0		1	9.999204e-01	0	4	0	72	0	38	193
MAST2	23139	broad.mit.edu	37	1	46497062	46497062	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657																																						ENST00000361297.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.983109	0.980000	0.990000																										0				11						c.e24-1		microtubule associated serine/threonine kinase 2							34.0	39.0	37.0					1																	46497062		2045	4178	6223	SO:0001630	splice_region_variant	23139	0	0					g.chr1:46497062G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2993-1G>T	chr1.hg19:g.46497062G>T		1					MAST2_ENST00000372009.2_Splice_Site		NM_015112.2	NP_055927.2	0	1	1	1.827221				24	3275	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)			Splice_Site	SNP	ENST00000361297.2	1	1	hg19		CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977123	0.53720	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	4.85	0.62838	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0003	0.80288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAST2	46269649	46269649	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.626000	0.88956	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_015112	Intron		63	63		169	168	1		1	1		0	0	36	0		1	7.565012e-02	0	2	0	0	0	63	169
MAST2	23139	broad.mit.edu	37	1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGCCATTCGTGAGGTGGAC	0.647																																						ENST00000361297.2	0.680000	0.180000	5.400000e-01	2.700000e-01	0.390000	0.411623	0.390000	0.370000																										0				11						c.(4495-4497)cGt>cAt		microtubule associated serine/threonine kinase 2							31.0	35.0	34.0					1																	46500837		2119	4237	6356	SO:0001583	missense	23139	1	121108	32				g.chr1:46500837G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4496G>A	chr1.hg19:g.46500837G>A	ENSP00000354671:p.Arg1499His	1					MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	p.R1499H	NM_015112.2	NP_055927.2	0	1	1	1.827221				29	4779	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)			Missense_Mutation	SNP	ENST00000361297.2	1	1	hg19	c.4496G>A	CCDS41326.1	0	.	.	.	.	.	.	.	.	.	.	g	12.74	2.029744	0.35797	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.66099	-0.12;-0.19	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.209202	0.37715	N	0.001979	T	0.49115	0.1538	L	0.29908	0.895	0.27728	N	0.944905	B;B	0.23490	0.086;0.086	B;B	0.12837	0.008;0.007	T	0.46898	-0.9158	10	0.41790	T	0.15	-4.8552	13.9857	0.64334	0.0:0.1524:0.8476:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1499;1309;186	ENSP00000354671:R1499H;ENSP00000361079:R1309H	ENSP00000354671:R1499H	R	+	2	0	0	MAST2	46273424	46273424	0.997000	0.39634	0.988000	0.46212	0.725000	0.41563	2.700000	0.47085	2.417000	0.82017	0.454000	0.30748	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-9.879294	1	0.170000	NM_015112			8	8		215	214	0		1	0		0	0	44	0		9.895572e-01	6.849122e-01	0	0	0	63	0	8	215
PIK3R3	8503	broad.mit.edu	37	1	46509480	46509480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000372006.1_Silent_p.E417E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Silent_p.E322E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	417	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)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GGTTGTAGGGCTCTGCAAAGC	0.527																																						ENST00000262741.5	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.953344	0.960000	0.990000																										0				14						c.(1249-1251)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	Isoprenaline(DB01064)						131.0	111.0	118.0					1																	46509480		2203	4300	6503	SO:0001819	synonymous_variant	8503	0	0					g.chr1:46509480C>T	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.1251G>A	chr1.hg19:g.46509480C>T		1					PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000372006.1_Silent_p.E417E	p.E417E	NM_003629.3	NP_003620.3	0	1	1	1.827221	Q92569	P55G_HUMAN		10	1940	-	Acute lymphoblastic leukemia(166;0.155)		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	1	1	hg19	c.1251G>A	CCDS529.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_003629			31	30		139	135	0		1	1		0	0	43	0		1	9.973595e-01	0	4	0	41	0	31	139
PIK3R3	8503	broad.mit.edu	37	1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	217					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)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTAAAAGCTTCTATTGCAGTC	0.333																																						ENST00000262741.5	1.000000	0.930000	1	9.600000e-01	0.980000	0.986668	0.980000	0.990000																										0				14						c.(649-651)Gaa>Aaa		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	Isoprenaline(DB01064)						134.0	127.0	129.0					1																	46527716		2203	4300	6503	SO:0001583	missense	8503	0	0					g.chr1:46527716C>T	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.649G>A	chr1.hg19:g.46527716C>T	ENSP00000262741:p.Glu217Lys	1					PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K	p.E217K	NM_003629.3	NP_003620.3	0	1	1	1.827221	Q92569	P55G_HUMAN		6	1338	-	Acute lymphoblastic leukemia(166;0.155)		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	1	1	hg19	c.649G>A	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.110001	0.94292	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;D;D;T;D	0.86627	-1.4;-1.4;-1.4;-1.59;-2.15;-1.37;-1.59	5.86	4.95	0.65309	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.53619	0.803;0.961;0.897;0.507	P;P;P;B	0.54100	0.612;0.742;0.686;0.296	D	0.93558	0.6892	10	0.87932	D	0	.	15.1844	0.72989	0.0:0.9324:0.0:0.0676	.	263;250;217;217	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	217;217;217;217;181;263;217	ENSP00000361075:E217K;ENSP00000262741:E217K;ENSP00000412546:E217K;ENSP00000346188:E217K;ENSP00000342484:E181K;ENSP00000439913:E263K;ENSP00000391431:E217K	ENSP00000262741:E217K	E	-	1	0	0	PIK3R3	46300303	46300303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	1.481000	0.48307	0.563000	0.77884	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_003629			88	88		315	313	0		1	0		0	0	77	0		1	9.260125e-01	0	1	0	17	0	88	315
POMGNT1	55624	broad.mit.edu	37	1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371984.3	-	19	1794	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H546R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	546					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527																																						ENST00000371984.3	1.000000	0.820000	9.900000e-01	8.800000e-01	0.940000	0.939066	0.940000	0.990000																										0				20						c.(1636-1638)cAc>cGc		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							186.0	194.0	191.0					1																	46656157		2203	4300	6503	SO:0001583	missense	55624	0	0					g.chr1:46656157T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1637A>G	chr1.hg19:g.46656157T>C	ENSP00000361052:p.His546Arg	1					POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H546R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R	p.H546R	NM_017739.3	NP_060209	0	1	1	1.827221	Q8WZA1	PMGT1_HUMAN		19	1794	-	Acute lymphoblastic leukemia(166;0.155)		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	1	1	hg19	c.1637A>G	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920763	0.33908	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.85013	-0.29;-1.93;-0.29;-1.93	5.53	4.3	0.51218	5.53	4.3	0.51218	.	0.104769	0.64402	D	0.000003	T	0.70833	0.3269	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.003;0.002	B;B;B;B	0.15870	0.011;0.009;0.011;0.014	T	0.65434	-0.6169	10	0.15066	T	0.55	-21.8027	12.0904	0.53722	0.1376:0.0:0.0:0.8624	.	524;546;403;546	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	R	546;546;524;546	ENSP00000361052:H546R;ENSP00000361060:H546R;ENSP00000443767:H524R;ENSP00000361054:H546R	ENSP00000361052:H546R	H	-	2	0	0	POMGNT1	46428744	46428744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.170000	0.50816	2.124000	0.65301	0.459000	0.35465	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	1		2	2	2	0		0	0	290		290	286	1	2.060000	-20.000000	1	0.170000	NM_017739			132	127		1283	1250	0		1	1		0	0	290	0		1	9.999936e-01	0	32	0	126	0	132	1283
POMGNT1	55624	broad.mit.edu	37	1	46657980	46657980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371984.3	-	16	1570	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371992.1_Splice_Site_p.K471N|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	471					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572																																						ENST00000371984.3	1.000000	0.760000	9.900000e-01	8.600000e-01	0.930000	0.928630	0.930000	0.990000																										0				20						c.(1411-1413)aaG>aaT		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							91.0	87.0	88.0					1																	46657980		2203	4300	6503	SO:0001630	splice_region_variant	55624	0	0					g.chr1:46657980C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1413+1G>T	chr1.hg19:g.46657980C>A		1					POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Splice_Site_p.K471N|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N	p.K471N	NM_017739.3	NP_060209	0	1	1	1.827221	Q8WZA1	PMGT1_HUMAN		16	1570	-	Acute lymphoblastic leukemia(166;0.155)		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	ENST00000371984.3	1	0	hg19	c.1413G>T	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015422	0.75161	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.33654	1.43;1.4;1.43;1.4	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.49350	1.555	0.80722	D	1	D;D;D;D;P;D	0.54397	0.958;0.966;0.966;0.966;0.829;0.966	P;P;P;P;P;P	0.53313	0.547;0.723;0.676;0.676;0.583;0.676	T	0.15435	-1.0437	9	.	.	.	-24.6181	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	449;449;449;471;328;471	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	N	471;471;449;471	ENSP00000361052:K471N;ENSP00000361060:K471N;ENSP00000443767:K449N;ENSP00000361054:K471N	.	K	-	3	2	2	POMGNT1	46430567	46430567	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.655000	0.61476	2.843000	0.97960	0.585000	0.79938	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	1		13	6	2	1		1	1	102		102	101	1	2.060000	-3.318796	1	0.170000	NM_017739	Missense_Mutation		40	38		316	312	1		1	1		1	0	102	0		9.999704e-01	9.843576e-01	0	6	0	108	0	40	316
POMGNT1	55624	broad.mit.edu	37	1	46663544	46663544	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000371984.3	-	2	108		c.e2-1		POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000396420.3_Splice_Site|POMGNT1_ENST00000535522.1_5'Flank	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCAGGAATCTGAAGGGACC	0.592																																						ENST00000371984.3	1.000000	0.870000	1	9.300000e-01	0.970000	0.969907	0.970000	0.990000																										0				20						c.e2-1		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							35.0	35.0	35.0					1																	46663544		2203	4300	6503	SO:0001630	splice_region_variant	55624	0	0					g.chr1:46663544C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.50-1G>T	chr1.hg19:g.46663544C>A		1					POMGNT1_ENST00000396420.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000535522.1_5'Flank		NM_017739.3	NP_060209	0	1	1	1.827221	Q8WZA1	PMGT1_HUMAN		2	108	-	Acute lymphoblastic leukemia(166;0.155)		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	ENST00000371984.3	1	1	hg19		CCDS531.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_017739	Intron		45	45		181	177	1		1	1		0	0	48	0		1	9.366546e-01	0	18	0	3	0	45	181
RAD54L	8438	broad.mit.edu	37	1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	19					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4	1.000000	0.590000	9.600000e-01	7.300000e-01	0.860000	0.851281	0.860000	0.990000																										0				25						c.(55-57)Tcc>Gcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							66.0	69.0	68.0					1																	46714235		2203	4300	6503	SO:0001583	missense	8438	0	0					g.chr1:46714235T>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.55T>G	chr1.hg19:g.46714235T>G	ENSP00000361043:p.Ser19Ala	1					RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	p.S19A	NM_003579.3	NP_003570.2	0	1	1	1.827221	Q92698	RAD54_HUMAN		2	729	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	1	1	hg19	c.55T>G	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	T	4.225	0.040707	0.08196	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	-3.48	0.04739	5.69	-3.48	0.04739	.	1.052970	0.07322	N	0.877717	T	0.71307	0.3324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60021	-0.7344	10	0.08179	T	0.78	1.6501	6.677	0.23100	0.0:0.1292:0.3674:0.5034	.	19	Q92698	RAD54_HUMAN	A	19	ENSP00000396113:S19A;ENSP00000361043:S19A	ENSP00000361043:S19A	S	+	1	0	0	RAD54L	46486822	46486822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.654000	0.05354	-0.283000	0.09115	0.533000	0.62120	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-8.788609	1	0.170000	NM_003579			19	19		178	177	1		1	1		0	0	53	0		9.999927e-01	1.176448e-01	0	2	0	4	0	19	178
RAD54L	8438	broad.mit.edu	37	1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	304	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502								Direct reversal of damage;Homologous recombination																														ENST00000371975.4	1.000000	0.930000	1	9.600000e-01	0.980000	0.986296	0.980000	0.990000																										0				25						c.(910-912)tCt>tAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							97.0	91.0	93.0					1																	46733150		2203	4300	6503	SO:0001583	missense	8438	0	0					g.chr1:46733150C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.911C>A	chr1.hg19:g.46733150C>A	ENSP00000361043:p.Ser304Tyr	1					RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y|RAD54L_ENST00000473251.1_3'UTR	p.S304Y	NM_003579.3	NP_003570.2	0	1	1	1.827221	Q92698	RAD54_HUMAN		9	1585	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	1	1	hg19	c.911C>A	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981784	0.93044	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93604	-3.25;-3.25	5.34	5.34	0.76211	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.054494	0.85682	D	0.000000	D	0.95313	0.8479	M	0.74389	2.26	0.80722	D	1	P;P	0.47841	0.858;0.901	B;P	0.51701	0.25;0.677	D	0.95438	0.8523	10	0.59425	D	0.04	-13.6725	19.0329	0.92965	0.0:1.0:0.0:0.0	.	124;304	G3V1N0;Q92698	.;RAD54_HUMAN	Y	304;304;124	ENSP00000396113:S304Y;ENSP00000361043:S304Y	ENSP00000361043:S304Y	S	+	2	0	0	RAD54L	46505737	46505737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.486000	0.83907	0.561000	0.74099	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-4.008935	1	0.170000	NM_003579			83	78		278	269	1		1	0		0	0	69	0		1	7.077305e-01	0	0	0	10	0	83	278
RAD54L	8438	broad.mit.edu	37	1	46739361	46739361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	518	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4	1.000000	0.670000	9.800000e-01	8.000000e-01	0.910000	0.898187	0.910000	0.990000																										0				25						c.(1552-1554)Ctg>Ttg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							71.0	75.0	74.0					1																	46739361		2203	4300	6503	SO:0001819	synonymous_variant	8438	0	0					g.chr1:46739361C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1552C>T	chr1.hg19:g.46739361C>T		1					RAD54L_ENST00000442598.1_Silent_p.L518L	p.L518L	NM_003579.3	NP_003570.2	0	1	1	1.827221	Q92698	RAD54_HUMAN		14	2226	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	0	1	hg19	c.1552C>T	CCDS532.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_003579			16	15		97	96	1		1	0		0	0	15	0		9.999490e-01	3.902663e-01	0	1	0	8	0	16	97
RAD54L	8438	broad.mit.edu	37	1	46743903	46743903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	RAD54L_ENST00000442598.1_Silent_p.I731I|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	731					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587								Direct reversal of damage;Homologous recombination																														ENST00000371975.4	1.000000	0.830000	1	9.100000e-01	0.960000	0.955967	0.960000	0.990000																										0				25						c.(2191-2193)atC>atT	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							35.0	34.0	35.0					1																	46743903		2203	4300	6503	SO:0001819	synonymous_variant	8438	0	0					g.chr1:46743903C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2193C>T	chr1.hg19:g.46743903C>T		1					RAD54L_ENST00000442598.1_Silent_p.I731I|LRRC41_ENST00000472710.1_5'Flank	p.I731I	NM_003579.3	NP_003570.2	0	1	1	1.827221	Q92698	RAD54_HUMAN		18	2867	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	1	1	hg19	c.2193C>T	CCDS532.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_003579			29	27		106	105	1		1	1		0	0	28	0		1	9.166774e-01	0	7	0	11	0	29	106
NSUN4	387338	broad.mit.edu	37	1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	294					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493																																						ENST00000474844.1	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.913694	0.920000	0.990000																										0				8						c.(880-882)gCt>gAt		NOP2/Sun domain family, member 4							131.0	112.0	119.0					1																	46827244		2203	4300	6503	SO:0001583	missense	387338	0	0					g.chr1:46827244C>A	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.881C>A	chr1.hg19:g.46827244C>A	ENSP00000419740:p.Ala294Asp	1					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	p.A294D	NM_199044.3	NP_950245.2	0	1	1	1.827221	Q96CB9	NSUN4_HUMAN		6	1531	+	Acute lymphoblastic leukemia(166;0.155)		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	1	1	hg19	c.881C>A	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304266	0.81136	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.27402	1.67;1.67;1.67	5.43	5.43	0.79202	5.43	5.43	0.79202	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.84082	2.675	0.80722	D	1	D;D	0.65815	0.995;0.985	D;P	0.63877	0.919;0.889	T	0.61821	-0.6984	10	0.62326	D	0.03	-13.8516	17.5969	0.88014	0.0:1.0:0.0:0.0	.	161;294	B3KUM0;Q96CB9	.;NSUN4_HUMAN	D	294;245;245	ENSP00000419740:A294D;ENSP00000438912:A245D;ENSP00000437758:A245D	ENSP00000419740:A294D	A	+	2	0	0	NSUN4	46599831	46599831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.824000	0.97209	0.655000	0.94253	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_199044			36	36		303	297	1		1	1		0	0	88	0		1	9.967098e-01	0	9	0	67	0	36	303
NSUN4	387338	broad.mit.edu	37	1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	333					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478																																						ENST00000474844.1	1.000000	0.940000	1	9.700000e-01	0.980000	0.989899	0.980000	0.990000																										0				8						c.(997-999)aGc>aTc		NOP2/Sun domain family, member 4							304.0	280.0	288.0					1																	46827361		2203	4300	6503	SO:0001583	missense	387338	0	0					g.chr1:46827361G>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.998G>T	chr1.hg19:g.46827361G>T	ENSP00000419740:p.Ser333Ile	1					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	p.S333I	NM_199044.3	NP_950245.2	0	1	1	1.827221	Q96CB9	NSUN4_HUMAN		6	1648	+	Acute lymphoblastic leukemia(166;0.155)		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	1	1	hg19	c.998G>T	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596087	0.46318	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14893	2.47;2.48;2.48	5.43	0.566	0.17317	5.43	0.566	0.17317	.	0.254757	0.47455	D	0.000236	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	P;B	0.44281	0.831;0.004	P;B	0.48552	0.581;0.044	T	0.07558	-1.0766	10	0.49607	T	0.09	-2.0149	10.326	0.43793	0.4737:0.0:0.5263:0.0	.	200;333	B3KUM0;Q96CB9	.;NSUN4_HUMAN	I	333;284;284	ENSP00000419740:S333I;ENSP00000438912:S284I;ENSP00000437758:S284I	ENSP00000419740:S333I	S	+	2	0	0	NSUN4	46599948	46599948	0.610000	0.26983	0.991000	0.47740	0.495000	0.33615	0.270000	0.18607	0.239000	0.21243	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-20.000000	1	0.170000	NM_199044			118	114		468	458	1		1	1		0	0	140	0		1	9.999989e-01	0	20	0	59	0	118	468
NSUN4	387338	broad.mit.edu	37	1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	372					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453																																						ENST00000474844.1	1.000000	0.870000	1	9.300000e-01	0.970000	0.967301	0.970000	0.990000																										0				8						c.(1114-1116)tTt>tCt		NOP2/Sun domain family, member 4							141.0	132.0	135.0					1																	46827478		2203	4300	6503	SO:0001583	missense	387338	0	0					g.chr1:46827478T>C	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.1115T>C	chr1.hg19:g.46827478T>C	ENSP00000419740:p.Phe372Ser	1					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	p.F372S	NM_199044.3	NP_950245.2	0	1	1	1.827221	Q96CB9	NSUN4_HUMAN		6	1765	+	Acute lymphoblastic leukemia(166;0.155)		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	1	1	hg19	c.1115T>C	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805739	0.70682	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09073	3.02;3.02;3.02	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.889	T	0.02464	-1.1155	10	0.51188	T	0.08	-16.6586	15.6414	0.77006	0.0:0.0:0.0:1.0	.	239;372	B3KUM0;Q96CB9	.;NSUN4_HUMAN	S	372;323;323	ENSP00000419740:F372S;ENSP00000438912:F323S;ENSP00000437758:F323S	ENSP00000419740:F372S	F	+	2	0	0	NSUN4	46600065	46600065	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.075000	0.71261	2.279000	0.76181	0.533000	0.62120	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_199044			44	44		193	190	1		1	1		0	0	54	0		1	9.997685e-01	0	20	0	39	0	44	193
DMBX1	127343	broad.mit.edu	37	1	46976890	46976890	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	ENST00000360032.3	+	3	631	c.617A>G	c.(616-618)aAa>aGa	p.K206R	DMBX1_ENST00000371956.4_Missense_Mutation_p.K211R	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGGACCCCAAAGCTGAGAAG	0.662																																						ENST00000360032.3	1.000000	0.880000	1	9.300000e-01	0.970000	0.971819	0.970000	0.990000																										0				17						c.(616-618)aAa>aGa		diencephalon/mesencephalon homeobox 1							12.0	14.0	13.0					1																	46976890		2173	4251	6424	SO:0001583	missense	127343	1	120872	31				g.chr1:46976890A>G	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.617A>G	chr1.hg19:g.46976890A>G	ENSP00000353132:p.Lys206Arg	1					DMBX1_ENST00000371956.4_Missense_Mutation_p.K211R	p.K206R	NM_172225.1	NP_757379.1	0	1	1	1.827221				3	631	+	Acute lymphoblastic leukemia(166;0.155)			Missense_Mutation	SNP	ENST00000360032.3	1	1	hg19	c.617A>G	CCDS536.1	1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117722	0.37339	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93712	-3.19;-3.27	4.84	3.72	0.42706	4.84	3.72	0.42706	.	0.138526	0.64402	D	0.000006	D	0.86719	0.6000	L	0.31926	0.97	0.51012	D	0.999908	B;B	0.21452	0.034;0.056	B;B	0.23275	0.02;0.045	T	0.79992	-0.1569	10	0.13853	T	0.58	.	9.1239	0.36803	0.9133:0.0:0.0867:0.0	.	211;206	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	R	211;206	ENSP00000361024:K211R;ENSP00000353132:K206R	ENSP00000353132:K206R	K	+	2	0	0	DMBX1	46749477	46749477	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.175000	0.77632	1.827000	0.53221	0.482000	0.46254	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1	0	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				39	39		101	98	0		1	0		0	0	26	0		1	0	0	1	0	0	0	39	101
KNCN	148930	broad.mit.edu	37	1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C|KNCN_ENST00000524908.1_5'Flank			A6PVL3	KNCN_HUMAN	kinocilin	11						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCCGCGGAAGTCTCTG	0.642																																						ENST00000481882.2	1.000000	0.820000	9.900000e-01	9.000000e-01	0.950000	0.951743	0.950000	0.990000																										0				4						c.(31-33)Cgc>Tgc		kinocilin							42.0	51.0	48.0					1																	47016857		2056	4192	6248	SO:0001583	missense	148930	1	120988	28				g.chr1:47016857G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.31C>T	chr1.hg19:g.47016857G>A	ENSP00000419705:p.Arg11Cys	1					KNCN_ENST00000524908.1_5'Flank|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C|MKNK1-AS1_ENST00000602433.1_RNA	p.R11C			0	1	1	1.827221	A6PVL3	KNCN_HUMAN		1	342	-	Acute lymphoblastic leukemia(166;0.155)		A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	1	1	hg19	c.31C>T		1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745108	0.30955	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70282	-0.47	5.39	4.48	0.54585	5.39	4.48	0.54585	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.37725	D	0.925069	B	0.13145	0.007	B	0.10450	0.005	T	0.63804	-0.6554	8	0.87932	D	0	-4.4966	10.1114	0.42565	0.0926:0.0:0.9074:0.0	.	11	A6PVL3-2	.	C	11	ENSP00000419705:R11C	ENSP00000379607:R11C	R	-	1	0	0	KNCN	46789444	46789444	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	3.772000	0.55325	1.278000	0.44430	-0.140000	0.14226	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-2.716734	1	0.170000	NM_182516			58	58		434	427	1		1			0	0	84	0		1	0	0	0	0	0	0	58	434
CYP4B1	1580	broad.mit.edu	37	1	47279186	47279186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000271153.4	+	5	564	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_ENST00000371919.4_Silent_p.K161K|CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	176					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)			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)	GGGAGGGTAAGTCCTTTGACA	0.567																																						ENST00000271153.4	1.000000	0.650000	9.700000e-01	7.800000e-01	0.890000	0.881619	0.890000	0.990000																										0				36						c.(526-528)aaG>aaA		cytochrome P450, family 4, subfamily B, polypeptide 1	Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)						125.0	118.0	121.0					1																	47279186		2203	4300	6503	SO:0001819	synonymous_variant	1580	0	0					g.chr1:47279186G>A	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.528G>A	chr1.hg19:g.47279186G>A		1					CYP4B1_ENST00000371919.4_Silent_p.K161K|CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K	p.K176K			0	1	1	1.827221	P13584	CP4B1_HUMAN		5	564	+	Acute lymphoblastic leukemia(166;0.155)		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	1	1	hg19	c.528G>A	CCDS542.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000779			25	25		222	218	0		1			0	0	49	0		9.999999e-01	0	0	0	0	0	0	25	222
CYP4B1	1580	broad.mit.edu	37	1	47279222	47279222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000271153.4	+	5	600	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_ENST00000371919.4_Silent_p.A173A|CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					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)			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)	GTCACATGGCGCTGAACACAC	0.572																																						ENST00000271153.4	1.000000	0.890000	1	9.400000e-01	0.970000	0.973733	0.970000	0.990000																										0				36						c.(562-564)gcG>gcA		cytochrome P450, family 4, subfamily B, polypeptide 1	Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)						107.0	103.0	105.0					1																	47279222		2203	4300	6503	SO:0001819	synonymous_variant	1580	1	121410	32				g.chr1:47279222G>A	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.564G>A	chr1.hg19:g.47279222G>A		1					CYP4B1_ENST00000371919.4_Silent_p.A173A|CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A	p.A188A			0	1	1	1.827221	P13584	CP4B1_HUMAN		5	600	+	Acute lymphoblastic leukemia(166;0.155)		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	1	1	hg19	c.564G>A	CCDS542.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000779			54	52		234	226	1		1	0		0	0	61	0		1	0	0	0	0	1	0	54	234
CYP4X1	260293	broad.mit.edu	37	1	47495763	47495763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	93						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433																																						ENST00000371901.3	1.000000	0.820000	9.900000e-01	8.900000e-01	0.950000	0.947850	0.950000	0.990000																										0				17						c.(277-279)atC>atT		cytochrome P450, family 4, subfamily X, polypeptide 1							114.0	120.0	118.0					1																	47495763		2203	4300	6503	SO:0001819	synonymous_variant	260293	0	0					g.chr1:47495763C>T	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.279C>T	chr1.hg19:g.47495763C>T		1					CYP4X1_ENST00000538609.1_Silent_p.I92I	p.I93I	NM_178033.1	NP_828847.1	0	1	1	1.827221	Q8N118	CP4X1_HUMAN		2	529	+			G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	1	1	hg19	c.279C>T	CCDS544.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.142702	1	0.170000	NM_178033			58	56		451	439	1		1	0		0	0	119	0		1	1.467794e-01	0	0	0	6	0	58	451
CYP4Z1	199974	broad.mit.edu	37	1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	23						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557																																						ENST00000334194.3	1.000000	0.670000	9.800000e-01	7.900000e-01	0.900000	0.892523	0.900000	0.990000																										0				11						c.(67-69)Tct>Gct		cytochrome P450, family 4, subfamily Z, polypeptide 1							74.0	67.0	70.0					1																	47533229		2203	4298	6501	SO:0001583	missense	199974	0	0					g.chr1:47533229T>G	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.67T>G	chr1.hg19:g.47533229T>G	ENSP00000334246:p.Ser23Ala	1						p.S23A	NM_178134.2	NP_835235.1	0	1	1	1.827221	Q86W10	CP4Z1_HUMAN		1	70	+			Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	1	1	hg19	c.67T>G	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297443	0.01364	.	.	ENSG00000186160	ENST00000334194	T	0.68903	-0.36	3.29	-0.545	0.11843	3.29	-0.545	0.11843	.	0.321368	0.22204	U	0.063190	T	0.33469	0.0864	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25222	-1.0138	10	0.19147	T	0.46	.	8.8238	0.35043	0.0:0.0:0.3568:0.6432	.	23	Q86W10	CP4Z1_HUMAN	A	23	ENSP00000334246:S23A	ENSP00000334246:S23A	S	+	1	0	0	CYP4Z1	47305816	47305816	0.000000	0.05858	0.112000	0.21494	0.073000	0.16967	-0.537000	0.06128	0.036000	0.15547	0.378000	0.23410	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	1	0	1		2	2	2	0		0	0	44		44	50	1	2.060000	-11.142610	1	0.170000	NM_178134			25	24		209	205	0		1			0	0	44	0		9.999999e-01	0	0	0	0	0	0	25	209
CYP4A22	284541	broad.mit.edu	37	1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	387						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.980882	0.980000	0.990000																										0				22						c.(1159-1161)Cca>Tca		cytochrome P450, family 4, subfamily A, polypeptide 22							114.0	93.0	100.0					1																	47610579		2203	4300	6503	SO:0001583	missense	284541	0	0					g.chr1:47610579C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1159C>T	chr1.hg19:g.47610579C>T	ENSP00000360958:p.Pro387Ser	1					CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22_ENST00000485117.1_3'UTR	p.P387S	NM_001010969.2	NP_001010969.2	0	1	1	1.827221	Q5TCH4	CP4AM_HUMAN		9	1190	+			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	1	1	hg19	c.1159C>T	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985172	0.53934	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73047	-0.63;-0.71;-0.71	1.51	1.51	0.23008	1.51	1.51	0.23008	.	0.049915	0.85682	D	0.000000	T	0.78188	0.4244	M	0.78049	2.395	0.40862	D	0.983847	B;B	0.29671	0.236;0.254	P;B	0.48304	0.573;0.438	T	0.79249	-0.1881	10	0.87932	D	0	.	8.7264	0.34471	0.226:0.7739:0.0:0.0	.	289;387	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	289;387;387	ENSP00000360957:P289S;ENSP00000360958:P387S;ENSP00000294337:P387S	ENSP00000294337:P387S	P	+	1	0	0	CYP4A22	47383166	47383166	0.674000	0.27549	0.015000	0.15790	0.465000	0.32709	2.614000	0.46359	0.842000	0.35045	0.194000	0.17425	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	1	0	1		2	2	2	0		0	0	55		55	56	1	2.060000	-20.000000	1	0.170000	XM_208213			58	57		167	164	1		1			0	0	55	0		1	0	0	0	0	0	0	58	167
TAL1	6886	broad.mit.edu	37	1	47685563	47685563	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000294339.3	-	4	1401	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_ENST00000371883.3_Silent_p.A277A|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.A275A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|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)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	ENST00000294339.3	1.000000	0.880000	1	9.400000e-01	0.970000	0.972013	0.970000	0.990000				Dom	yes			Dom	yes		1	1p32	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)				L	L	TRD@, SIL		lymphoblastic leukemia/biphasic		0				15						c.(823-825)gcG>gcA		T-cell acute lymphocytic leukemia 1							12.0	15.0	14.0					1																	47685563		2157	4259	6416	SO:0001819	synonymous_variant	6886	8	117932	36				g.chr1:47685563C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.825G>A	chr1.hg19:g.47685563C>T		1					TAL1_ENST00000371883.3_Silent_p.A277A|TAL1_ENST00000371884.2_Silent_p.A275A|TAL1_ENST00000459729.1_5'UTR	p.A275A	NM_003189.2	NP_003180.1	0	1	1	1.827221	P17542	TAL1_HUMAN		4	1401	-			D3DQ24	Silent	SNP	ENST00000294339.3	1	1	hg19	c.825G>A	CCDS547.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_003189			43	43		140	132	0		1			0	0	22	0		1	0	0	0	0	0	0	43	140
STIL	6491	broad.mit.edu	37	1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000337817.5_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	556					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)				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)				ATTAAGTGTGGAGGGTCTTAT	0.408																																						ENST00000360380.3	1.000000	0.960000	1	9.800000e-01	0.990000	0.994288	0.990000	1.000000																										0				36						c.(1666-1668)tCc>tAc		SCL/TAL1 interrupting locus							132.0	145.0	141.0					1																	47746463		2203	4300	6503	SO:0001583	missense	6491	0	0					g.chr1:47746463G>T	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.1667C>A	chr1.hg19:g.47746463G>T	ENSP00000353544:p.Ser556Tyr	1					STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000337817.5_Missense_Mutation_p.S556Y	p.S556Y	NM_001282936.1	NP_001269865.1	0	1	1	1.827221	Q15468	STIL_HUMAN		13	2030	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	1	1	hg19	c.1667C>A	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642910	0.47153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.53423	1.98;1.98;1.99;1.97;1.98;0.62	5.1	4.18	0.49190	5.1	4.18	0.49190	.	0.275883	0.35838	N	0.002956	T	0.52757	0.1754	L	0.32530	0.975	0.20196	N	0.999925	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.993;0.993	P;D;D;P;P	0.66497	0.804;0.944;0.912;0.804;0.804	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.4972	10.424	0.44367	0.1501:0.0:0.8499:0.0	.	556;509;556;556;556	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	556;556;556;556;556;509	ENSP00000353544:S556Y;ENSP00000337367:S556Y;ENSP00000360944:S556Y;ENSP00000379523:S556Y;ENSP00000243182:S556Y;ENSP00000411664:S509Y	ENSP00000243182:S556Y	S	-	2	0	0	STIL	47519050	47519050	0.997000	0.39634	0.536000	0.28039	0.760000	0.43138	3.054000	0.49908	2.383000	0.81215	0.655000	0.94253	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_003035			166	165		546	539	1		1	1		0	0	134	0		1	9.549992e-01	0	9	0	10	0	166	546
STIL	6491	broad.mit.edu	37	1	47753293	47753293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000337817.5_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	355					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)				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)				TCAGCGCTCAGTTCACAACGG	0.343																																						ENST00000360380.3	1.000000	0.750000	9.900000e-01	8.600000e-01	0.940000	0.929348	0.940000	0.990000																										0				36						c.(1063-1065)Ctg>Ttg		SCL/TAL1 interrupting locus							66.0	64.0	65.0					1																	47753293		2203	4300	6503	SO:0001819	synonymous_variant	6491	0	0					g.chr1:47753293G>A	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.1063C>T	chr1.hg19:g.47753293G>A		1					STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000337817.5_Silent_p.L355L	p.L355L	NM_001282936.1	NP_001269865.1	0	1	1	1.827221	Q15468	STIL_HUMAN		11	1426	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	1	1	hg19	c.1063C>T	CCDS548.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003035			22	22		115	114	1		1	1		0	0	33	0		9.999993e-01	7.530011e-01	0	6	0	10	0	22	115
STIL	6491	broad.mit.edu	37	1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000337817.5_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	272					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)				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)				TACCTGAGGACTATAGATATG	0.318																																						ENST00000360380.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.988176	0.980000	0.990000																										0				36						c.(814-816)aGt>aTt		SCL/TAL1 interrupting locus							118.0	125.0	123.0					1																	47759187		2203	4300	6503	SO:0001583	missense	6491	0	0					g.chr1:47759187C>A	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.815G>T	chr1.hg19:g.47759187C>A	ENSP00000353544:p.Ser272Ile	1					STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000337817.5_Missense_Mutation_p.S272I	p.S272I	NM_001282936.1	NP_001269865.1	0	1	1	1.827221	Q15468	STIL_HUMAN		9	1178	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	1	1	hg19	c.815G>T	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677186	0.88445	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.117689	0.85682	D	0.000000	T	0.71264	0.3319	M	0.76574	2.34	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.73177	-0.4065	10	0.87932	D	0	-17.9631	19.9662	0.97271	0.0:1.0:0.0:0.0	.	272;225;272;272;272	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	I	272;272;272;272;272;225	ENSP00000353544:S272I;ENSP00000337367:S272I;ENSP00000360944:S272I;ENSP00000379523:S272I;ENSP00000243182:S272I;ENSP00000411664:S225I	ENSP00000243182:S272I	S	-	2	0	0	STIL	47531774	47531774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.876000	0.39588	2.701000	0.92244	0.650000	0.86243	AGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_003035			93	92		305	296	1		1	1		0	0	139	0		1	3.357267e-01	0	4	0	1	0	93	305
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000337817.5_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	76					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)				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)				AAAGCATGACGAATTTTTTTT	0.413																																						ENST00000360380.3	0.750000	0.240000	6.100000e-01	3.400000e-01	0.460000	0.484747	0.460000	0.450000																										0				36						c.(226-228)tCg>tTg		SCL/TAL1 interrupting locus		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	120.0	125.0	123.0		227,227	3.1	0.4	1	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	STIL	NM_001048166.1,NM_003035.2	145,145	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	76/1289,76/1288	47767944	4,13002	2203	4300	6503	SO:0001583	missense	6491	13	121412	44				g.chr1:47767944G>A	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.227C>T	chr1.hg19:g.47767944G>A	ENSP00000353544:p.Ser76Leu	1					STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000337817.5_Missense_Mutation_p.S76L	p.S76L	NM_001282936.1	NP_001269865.1	0	1	1	1.827221	Q15468	STIL_HUMAN		5	590	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	1	1	hg19	c.227C>T	CCDS548.1	0	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420075	0.01136	2.27E-4	3.49E-4	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.42	3.12	0.35913	5.42	3.12	0.35913	.	0.418972	0.25723	N	0.028724	T	0.07908	0.0198	N	0.00289	-1.7	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33727	-0.9857	10	0.12103	T	0.63	0.1076	6.5954	0.22669	0.6468:0.0:0.3532:0.0	.	76;76;76;76;76	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	76;76;76;76;76;76;80	ENSP00000353544:S76L;ENSP00000337367:S76L;ENSP00000360944:S76L;ENSP00000379523:S76L;ENSP00000243182:S76L;ENSP00000411664:S76L;ENSP00000412019:S80L	ENSP00000243182:S76L	S	-	2	0	0	STIL	47540531	47540531	0.582000	0.26749	0.384000	0.26145	0.240000	0.25518	3.262000	0.51538	0.374000	0.24650	-0.391000	0.06502	TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.155205	1	0.170000	NM_003035			11	11		243	236	0		1	0		0	0	56	0		9.981737e-01	4.153169e-02	0	0	0	7	0	11	243
FOXD2	2306	broad.mit.edu	37	1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T	rs201282916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627																																						ENST00000334793.5	1.000000	0.840000	1	9.100000e-01	0.960000	0.958126	0.960000	0.990000																										0				4						c.(496-498)gaG>gaT		forkhead box D2		G	ASP/GLU	0,4406		0,0,2203	50.0	63.0	59.0		498	4.2	1.0	1		59	2,8598	1.2+/-3.3	0,2,4298	no	missense	FOXD2	NM_004474.3	45	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	166/496	47904305	2,13004	2203	4300	6503	SO:0001583	missense	2306	6	121412	41				g.chr1:47904305G>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.498G>T	chr1.hg19:g.47904305G>T	ENSP00000335493:p.Glu166Asp	1						p.E166D	NM_004474.3	NP_004465.3	0	1	1	1.827221	O60548	FOXD2_HUMAN		1	2617	+			Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	1	1	hg19	c.498G>T	CCDS30708.1	1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354318	0.61293	0.0	2.33E-4	ENSG00000186564	ENST00000334793	D	0.95588	-3.75	4.19	4.19	0.49359	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	N	0.04245	-0.25	0.50632	D	0.999888	B	0.24963	0.115	B	0.44224	0.444	D	0.90273	0.4309	10	0.46703	T	0.11	.	15.2933	0.73882	0.0:0.0:1.0:0.0	.	166	O60548	FOXD2_HUMAN	D	166	ENSP00000335493:E166D	ENSP00000335493:E166D	E	+	3	2	2	FOXD2	47676892	47676892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	1.861000	0.53984	0.430000	0.28490	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-20.000000	1	0.170000	NM_004474			68	66		507	495	0		1	0		0	0	140	0		1	1.125027e-01	0	1	0	4	0	68	507
SLC5A9	200010	broad.mit.edu	37	1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A	rs368240645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000438567.2	+	4	428	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|SLC5A9_ENST00000236495.5_Missense_Mutation_p.V151I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	126					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)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18029	0.0		0.0	False		,,,				2504	0.001					ENST00000438567.2	1.000000	0.640000	9.700000e-01	7.600000e-01	0.880000	0.872341	0.880000	0.990000																										0				26						c.(376-378)Gtc>Atc		solute carrier family 5 (sodium/sugar cotransporter), member 9							112.0	96.0	102.0					1																	48695003		2203	4300	6503	SO:0001583	missense	200010	19	121412	44				g.chr1:48695003G>A	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.376G>A	chr1.hg19:g.48695003G>A	ENSP00000401730:p.Val126Ile	1					SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|SLC5A9_ENST00000236495.5_Missense_Mutation_p.V151I|RP5-1024N4.4_ENST00000606809.1_RNA	p.V126I	NM_001011547.2	NP_001011547.2	0	1	1	1.827221	Q2M3M2	SC5A9_HUMAN		4	428	+			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	1	1	hg19	c.376G>A	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221494	0.58560	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.74	4.83	0.62350	5.74	4.83	0.62350	.	0.118460	0.64402	N	0.000018	D	0.87924	0.6300	M	0.62266	1.93	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.924;0.971	P;P;P	0.49477	0.523;0.495;0.612	D	0.86947	0.2083	10	0.35671	T	0.21	.	13.9411	0.64054	0.0724:0.0:0.9276:0.0	.	147;126;151	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	147;126;151;119	ENSP00000431900:V147I;ENSP00000401730:V126I;ENSP00000236495:V151I;ENSP00000408881:V119I	ENSP00000236495:V151I	V	+	1	0	0	SLC5A9	48467590	48467590	0.971000	0.33674	0.982000	0.44146	0.972000	0.66771	1.612000	0.36889	1.581000	0.49865	0.655000	0.94253	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	XM_117174			27	26		256	246	0		1	0		0	0	55	0		9.999999e-01	2.780326e-02	0	0	0	3	0	27	256
SLC5A9	200010	broad.mit.edu	37	1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000438567.2	+	12	1676	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A567T	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	542					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)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567																																						ENST00000438567.2	1.000000	0.830000	9.900000e-01	9.000000e-01	0.950000	0.952599	0.950000	0.990000																										0				26						c.(1624-1626)Gcc>Acc		solute carrier family 5 (sodium/sugar cotransporter), member 9							267.0	230.0	242.0					1																	48705156		2203	4300	6503	SO:0001583	missense	200010	0	0					g.chr1:48705156G>A	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.1624G>A	chr1.hg19:g.48705156G>A	ENSP00000401730:p.Ala542Thr	1					SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A567T	p.A542T	NM_001011547.2	NP_001011547.2	0	1	1	1.827221	Q2M3M2	SC5A9_HUMAN		12	1676	+			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	1	1	hg19	c.1624G>A	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886502	0.33348	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	3.4	0.38934	5.3	3.4	0.38934	.	0.589185	0.19332	N	0.116873	T	0.65386	0.2686	N	0.20685	0.6	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.50508	-0.8820	10	0.22109	T	0.4	.	10.7877	0.46415	0.2142:0.0:0.7858:0.0	.	563;542;567	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	563;542;567	ENSP00000431900:A563T;ENSP00000401730:A542T;ENSP00000236495:A567T	ENSP00000236495:A567T	A	+	1	0	0	SLC5A9	48477743	48477743	0.001000	0.12720	0.762000	0.31397	0.942000	0.58702	0.943000	0.29030	1.458000	0.47871	0.650000	0.86243	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-19.999990	1	0.170000	XM_117174			81	82		675	663	1		1	0		0	0	142	0		1	0	0	0	0	1	0	81	675
AGBL4	84871	broad.mit.edu	37	1	49052677	49052677	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	AGBL4_ENST00000334103.7_Splice_Site_p.A155A	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	422					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TAAGGATACAGGCTTCTTCAG	0.567																																						ENST00000371839.1	0.970000	0.230000	8.600000e-01	4.000000e-01	0.630000	0.634225	0.630000	0.640000																										0				15						c.(1264-1266)gcC>gcA		ATP/GTP binding protein-like 4							35.0	38.0	37.0					1																	49052677		2015	4178	6193	SO:0001630	splice_region_variant	84871	0	0					g.chr1:49052677G>T	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1267+1C>A	chr1.hg19:g.49052677G>T		1					AGBL4_ENST00000334103.7_Splice_Site_p.A155A	p.A422A	NM_032785.3	NP_116174.3	0	1	1	1.827221	Q5VU57	CBPC6_HUMAN		11	1382	-			B3KT26|B4DG37	Splice_Site	SNP	ENST00000371839.1	0	1	hg19	c.1266C>A	CCDS44137.1	0	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020974	0.35606	.	.	ENSG00000186094	ENST00000416121	.	.	.	5.77	3.91	0.45181	5.77	3.91	0.45181	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	-4.1408	7.8083	0.29215	0.1422:0.0:0.7256:0.1322	.	.	.	.	H	268	.	.	P	-	2	0	0	AGBL4	48825264	48825264	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	0.334000	0.19787	0.796000	0.33947	0.448000	0.29417	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-8.758585	1	0.170000	NM_032785	Silent		4	4		56	55	0		1	0		0	0	15	0		8.887070e-01	0	0	0	0	1	0	4	56
ELAVL4	1996	broad.mit.edu	37	1	50663102	50663102	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371823.4	+	6	960	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000357083.4_Splice_Site_p.L263M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371824.1_Splice_Site_p.L246M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	246					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418																																						ENST00000371823.4	1.000000	0.740000	9.800000e-01	8.400000e-01	0.920000	0.915485	0.920000	0.990000																										0				32						c.(736-738)Ctg>Atg		ELAV like neuron-specific RNA binding protein 4							148.0	152.0	151.0					1																	50663102		2203	4300	6503	SO:0001630	splice_region_variant	1996	0	0					g.chr1:50663102C>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.735-1C>A	chr1.hg19:g.50663102C>A		1					ELAVL4_ENST00000357083.4_Splice_Site_p.L263M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000371824.1_Splice_Site_p.L246M|ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M	p.L246M	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	0	1	1	1.827221	P26378	ELAV4_HUMAN		6	960	+			B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Splice_Site	SNP	ENST00000371823.4	1	0	hg19	c.736C>A	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056865	0.76074	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09630	3.01;3.0;2.98;2.99;2.99;2.96;2.99	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	P;D;P;P;P;P;P	0.54397	0.748;0.966;0.824;0.836;0.905;0.837;0.748	B;P;P;B;P;P;B	0.55999	0.326;0.702;0.789;0.326;0.693;0.525;0.326	T	0.00053	-1.2186	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	251;251;246;246;263;246;249	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	M	249;246;263;246;246;251;251	ENSP00000399939:L249M;ENSP00000360892:L246M;ENSP00000349594:L263M;ENSP00000360889:L246M;ENSP00000360888:L246M;ENSP00000360886:L251M;ENSP00000360884:L251M	ENSP00000349594:L263M	L	+	1	2	2	ELAVL4	50435689	50435689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.941000	0.99782	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-15.369280	1	0.170000	NM_021952	Missense_Mutation		49	47		446	435	0		1			0	0	136	0		1	0	0	0	0	0	0	49	446
DMRTA2	63950	broad.mit.edu	37	1	50884924	50884924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	ENST00000404795.3	-	3	1434	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	348	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						AGCACCTGCTCGATGGCCTGC	0.716																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3	1.000000	0.710000	9.900000e-01	8.300000e-01	0.930000	0.914271	0.930000	0.990000																										0				6						c.(1042-1044)Gag>Aag		DMRT-like family A2							8.0	10.0	9.0					1																	50884924		1899	3900	5799	SO:0001583	missense	63950	0	0					g.chr1:50884924C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1042G>A	chr1.hg19:g.50884924C>T	ENSP00000383909:p.Glu348Lys	1					DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	p.E348K	NM_032110.2	NP_115486.1	0	1	1	1.827221	Q96SC8	DMTA2_HUMAN		3	1434	-			Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	0	1	hg19	c.1042G>A	CCDS44141.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.504364	0.96371	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	D;D	0.84298	-1.83;-1.83	3.8	3.8	0.43715	3.8	3.8	0.43715	DMRTA motif (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.89904	3.07	0.54753	D	0.999983	D	0.60575	0.988	P	0.57548	0.823	D	0.93896	0.7184	10	0.87932	D	0	-10.9529	14.946	0.71032	0.0:1.0:0.0:0.0	.	348	Q96SC8	DMTA2_HUMAN	K	348	ENSP00000383909:E348K;ENSP00000399370:E348K	ENSP00000383909:E348K	E	-	1	0	0	DMRTA2	50657511	50657511	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.004000	0.57068	2.107000	0.64212	0.462000	0.41574	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.716	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_032110			18	17		98	97	0		1			0	0	11	0		9.999875e-01	0	0	0	0	0	0	18	98
DMRTA2	63950	broad.mit.edu	37	1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	248	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3	1.000000	0.620000	9.800000e-01	7.700000e-01	0.890000	0.878422	0.890000	0.990000																										0				6						c.(742-744)tCt>tAt		DMRT-like family A2							6.0	8.0	7.0					1																	50885223		1837	4020	5857	SO:0001583	missense	63950	0	0					g.chr1:50885223G>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.743C>A	chr1.hg19:g.50885223G>T	ENSP00000383909:p.Ser248Tyr	1					DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	p.S248Y	NM_032110.2	NP_115486.1	0	1	1	1.827221	Q96SC8	DMTA2_HUMAN		3	1135	-			Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	0	1	hg19	c.743C>A	CCDS44141.1	1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787807	0.31593	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.76	2.84	0.33178	3.76	2.84	0.33178	.	0.678240	0.13285	N	0.399480	T	0.19287	0.0463	N	0.22421	0.69	0.30662	N	0.75429	P	0.46020	0.871	B	0.37304	0.246	T	0.09618	-1.0666	10	0.45353	T	0.12	-9.2124	4.3626	0.11210	0.3172:0.0:0.6828:0.0	.	248	Q96SC8	DMTA2_HUMAN	Y	248	ENSP00000383909:S248Y;ENSP00000399370:S248Y	ENSP00000383909:S248Y	S	-	2	0	0	DMRTA2	50657810	50657810	0.999000	0.42202	0.995000	0.50966	0.353000	0.29299	4.988000	0.63863	2.078000	0.62432	0.462000	0.41574	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.721	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_032110			13	13		82	81	0		1			0	0	15	0		9.996372e-01	0	0	0	0	0	0	13	82
DMRTA2	63950	broad.mit.edu	37	1	50885340	50885340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	ENST00000404795.3	-	3	1018	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	209	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CGGCGGCAGCGGGCTGCCCGG	0.687																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3	1.000000	0.630000	9.800000e-01	7.800000e-01	0.910000	0.889600	0.910000	0.990000																										0				6						c.(625-627)cCg>cTg		DMRT-like family A2							5.0	7.0	6.0					1																	50885340		1788	3996	5784	SO:0001583	missense	63950	1	116202	20				g.chr1:50885340G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.626C>T	chr1.hg19:g.50885340G>A	ENSP00000383909:p.Pro209Leu	1					DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	p.P209L	NM_032110.2	NP_115486.1	0	1	1	1.827221	Q96SC8	DMTA2_HUMAN		3	1018	-			Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	1	1	hg19	c.626C>T	CCDS44141.1	1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904742	0.52333	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.98	3.98	0.46160	3.98	3.98	0.46160	.	0.845757	0.10504	N	0.667019	T	0.52581	0.1743	L	0.58810	1.83	0.53688	D	0.99997	D	0.71674	0.998	P	0.58520	0.84	T	0.47471	-0.9115	10	0.39692	T	0.17	-14.0179	15.3449	0.74327	0.0:0.0:1.0:0.0	.	209	Q96SC8	DMTA2_HUMAN	L	209	ENSP00000383909:P209L;ENSP00000399370:P209L	ENSP00000383909:P209L	P	-	2	0	0	DMRTA2	50657927	50657927	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.787000	0.62432	2.194000	0.70268	0.462000	0.41574	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.964200	1	0.170000	NM_032110			11	10		48	47	0		1			0	0	15	0		9.986222e-01	0	0	0	0	0	0	11	48
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	583	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532																																						ENST00000396153.2	1.000000	0.690000	9.800000e-01	8.000000e-01	0.900000	0.897008	0.900000	0.990000																										0				24						c.(1747-1749)ggC>ggT		Fas (TNFRSF6) associated factor 1							60.0	63.0	62.0					1																	50941256		2203	4300	6503	SO:0001819	synonymous_variant	11124	0	0					g.chr1:50941256G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1749C>T	chr1.hg19:g.50941256G>A		1					FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	p.G583G	NM_007051.2	NP_008982.1	0	1	1	1.827221	Q9UNN5	FAF1_HUMAN		18	2200	-			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	1	1	hg19	c.1749C>T	CCDS554.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_007051			33	31		296	291	0		1	0		0	0	72	0		1	9.999990e-01	0	0	0	195	0	33	296
FAF1	11124	broad.mit.edu	37	1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	431					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACTGCCAAAGTGTCTATTGC	0.353																																						ENST00000396153.2	0.950000	0.290000	8.300000e-01	4.300000e-01	0.620000	0.633863	0.620000	0.610000																										1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	24						c.(1291-1293)caC>caA		Fas (TNFRSF6) associated factor 1							63.0	62.0	62.0					1																	51005376		2203	4300	6503	SO:0001583	missense	11124	0	0					g.chr1:51005376G>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1293C>A	chr1.hg19:g.51005376G>T	ENSP00000379457:p.His431Gln	1					FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR	p.H431Q	NM_007051.2	NP_008982.1	0	1	1	1.827221	Q9UNN5	FAF1_HUMAN		14	1744	-			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	1	1	hg19	c.1293C>A	CCDS554.1	0	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332629	0.41297	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.9	-0.835	0.10775	5.9	-0.835	0.10775	UAS (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.47716	1.5	0.49582	D	0.999807	D;D	0.58970	0.984;0.984	P;P	0.51945	0.685;0.685	T	0.48703	-0.9012	9	0.11182	T	0.66	-33.0452	6.8217	0.23861	0.4533:0.0:0.4386:0.1081	.	189;431	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	431;431;189;271;279	.	ENSP00000360843:H431Q	H	-	3	2	2	FAF1	50777964	50777964	1.000000	0.71417	0.982000	0.44146	0.218000	0.24690	0.848000	0.27710	-0.417000	0.07461	-0.345000	0.07892	CAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-11.083090	1	0.170000	NM_007051			7	7		108	107	1		1	1		0	0	29	0		9.811031e-01	9.974087e-01	0	18	0	165	0	7	108
RNF11	26994	broad.mit.edu	37	1	51736946	51736946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	139					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468																																						ENST00000242719.3	1.000000	0.840000	1	9.100000e-01	0.960000	0.960077	0.960000	0.990000																										2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	1						c.(415-417)tgC>tgT		ring finger protein 11							149.0	122.0	131.0					1																	51736946		2203	4300	6503	SO:0001819	synonymous_variant	26994	0	0					g.chr1:51736946C>T	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.417C>T	chr1.hg19:g.51736946C>T		1					RNF11_ENST00000494873.1_3'UTR	p.C139C	NM_014372.4	NP_055187.1	0	1	1	1.827221	Q9Y3C5	RNF11_HUMAN		3	903	+			A8KAI2|Q5T7R8	Silent	SNP	ENST00000242719.3	1	1	hg19	c.417C>T	CCDS556.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_014372			49	47		295	292	0		1	1		0	0	69	0		1	1	0	52	0	336	0	49	295
EPS15	2060	broad.mit.edu	37	1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	195	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428			T	MLL	ALL																																	ENST00000371733.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.942645	0.950000	0.990000				Dom	yes			Dom	yes		1	1p32	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)				L	L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	35						c.(583-585)gCa>gTa		epidermal growth factor receptor pathway substrate 15							165.0	159.0	161.0					1																	51913785		2203	4300	6503	SO:0001583	missense	2060	0	0					g.chr1:51913785G>A	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.584C>T	chr1.hg19:g.51913785G>A	ENSP00000360798:p.Ala195Val	1					EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	p.A195V	NM_001981.2	NP_001972.1	0	1	1	1.827221	P42566	EPS15_HUMAN		9	680	-			B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	1	1	hg19	c.584C>T	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.574835	0.96553	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26518	1.73;1.73	5.75	5.75	0.90469	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006426	T	0.50582	0.1624	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25082	-1.0142	10	0.33141	T	0.24	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	195;195	B1AUU8;P42566	.;EPS15_HUMAN	V	195	ENSP00000360795:A195V;ENSP00000360798:A195V	ENSP00000360795:A195V	A	-	2	0	0	EPS15	51686373	51686373	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-17.780470	1	0.170000	NM_001981			47	45		352	347	1		1	1		0	0	105	0		1	9.999965e-01	0	6	0	135	0	47	352
EPS15	2060	broad.mit.edu	37	1	51937366	51937366	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51937366T>G	ENST00000371733.3	-	4	305	c.209A>C	c.(208-210)aAa>aCa	p.K70T	EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	70	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTACTTGTTTGTTCAGGAT	0.308			T	MLL	ALL																																	ENST00000371733.3	0.350000	0.080000	2.700000e-01	1.200000e-01	0.190000	0.205511	0.190000	0.180000				Dom	yes			Dom	yes		1	1p32	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)				L	L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	35						c.(208-210)aAa>aCa		epidermal growth factor receptor pathway substrate 15							65.0	78.0	73.0					1																	51937366		2203	4296	6499	SO:0001583	missense	2060	0	0					g.chr1:51937366T>G	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.209A>C	chr1.hg19:g.51937366T>G	ENSP00000360798:p.Lys70Thr	1					EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	p.K70T	NM_001981.2	NP_001972.1	0	1	1	1.827221	P42566	EPS15_HUMAN		4	305	-			B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	0	1	hg19	c.209A>C	CCDS557.1	0	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439416	0.83885	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28666	1.6;1.6	4.91	4.91	0.64330	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.34386	N	0.004013	T	0.63070	0.2480	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71965	-0.4433	10	0.66056	D	0.02	.	13.9443	0.64075	0.0:0.0:0.0:1.0	.	70;70	B1AUU8;P42566	.;EPS15_HUMAN	T	70	ENSP00000360795:K70T;ENSP00000360798:K70T	ENSP00000360792:K70T	K	-	2	0	0	EPS15	51709954	51709954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.807000	0.75201	2.187000	0.69744	0.533000	0.62120	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.308	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	0	0	0		2	2	2	0		0	0	113		113	112	1	2.060000	-7.059380	1	0.170000	NM_001981			7	7		400	398	0		1	0		0	0	113	0		9.804704e-01	6.398880e-01	0	1	0	118	0	7	400
OSBPL9	114883	broad.mit.edu	37	1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A	rs367629267		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000428468.1	+	12	931	c.929G>A	c.(928-930)cGc>cAc	p.R310H	OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	310					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348																																						ENST00000428468.1	0.990000	0.580000	9.500000e-01	7.100000e-01	0.830000	0.831073	0.830000	0.890000																										0				18						c.(928-930)cGc>cAc		oxysterol binding protein-like 9		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	64.0	65.0		929,395,395,878,599,890,959	2.0	1.0	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	OSBPL9	NM_024586.5,NM_148904.3,NM_148905.3,NM_148906.2,NM_148907.2,NM_148908.3,NM_148909.3	29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	310/737,132/559,132/559,293/720,200/627,297/724,320/747	52231644	1,13005	2203	4300	6503	SO:0001583	missense	114883	15	121412	42				g.chr1:52231644G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.929G>A	chr1.hg19:g.52231644G>A	ENSP00000407168:p.Arg310His	1					OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H	p.R310H			0	1	1	1.827221	Q96SU4	OSBL9_HUMAN		12	931	+			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	1	1	hg19	c.929G>A	CCDS41332.3	0	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465138	0.43839	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.86	1.97	0.26223	4.86	1.97	0.26223	.	0.100852	0.64402	N	0.000001	T	0.13457	0.0326	N	0.04880	-0.145	0.37295	D	0.908439	D;B;B;B;B	0.76494	0.999;0.007;0.0;0.01;0.01	P;B;B;B;B	0.62649	0.905;0.003;0.001;0.003;0.003	T	0.17868	-1.0355	10	0.44086	T	0.13	-14.4153	10.3018	0.43656	0.2153:0.0:0.7847:0.0	.	293;200;326;310;315	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	H	297;328;315;320;145;310;293;229;145;200;132;132	ENSP00000360779:R297H;ENSP00000360775:R328H;ENSP00000337265:R315H;ENSP00000412733:R320H;ENSP00000402646:R145H;ENSP00000407168:R310H;ENSP00000413263:R293H;ENSP00000433675:R229H;ENSP00000433083:R145H;ENSP00000354970:R200H;ENSP00000433279:R132H;ENSP00000431980:R132H	ENSP00000337265:R315H	R	+	2	0	0	OSBPL9	52004232	52004232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.545000	0.45769	0.338000	0.23692	0.650000	0.86243	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.221883	1	0.170000				25	25		269	266	0		1	1		0	0	46	0		9.999999e-01	9.999988e-01	0	28	0	217	0	25	269
OSBPL9	114883	broad.mit.edu	37	1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000428468.1	+	13	960	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	320					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393																																						ENST00000428468.1	1.000000	0.870000	1	9.300000e-01	0.970000	0.969773	0.970000	0.990000																										0				18						c.(958-960)Gtc>Atc		oxysterol binding protein-like 9							95.0	89.0	91.0					1																	52237761		2203	4300	6503	SO:0001583	missense	114883	0	0					g.chr1:52237761G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.958G>A	chr1.hg19:g.52237761G>A	ENSP00000407168:p.Val320Ile	1					OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I	p.V320I			0	1	1	1.827221	Q96SU4	OSBL9_HUMAN		13	960	+			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	1	1	hg19	c.958G>A	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169656	0.38315	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;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;2.42;2.42	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.199297	0.43416	D	0.000570	T	0.15478	0.0373	L	0.40543	1.245	0.32136	N	0.586092	B;B;B;B;B	0.11235	0.0;0.004;0.003;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.002	T	0.03875	-1.0996	10	0.35671	T	0.21	-9.6826	12.9341	0.58303	0.0771:0.0:0.9228:0.0	.	303;210;336;320;325	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	I	307;338;325;330;155;320;303;239;155;210;142;142	ENSP00000360779:V307I;ENSP00000360775:V338I;ENSP00000337265:V325I;ENSP00000412733:V330I;ENSP00000402646:V155I;ENSP00000407168:V320I;ENSP00000413263:V303I;ENSP00000433675:V239I;ENSP00000433083:V155I;ENSP00000354970:V210I;ENSP00000433279:V142I;ENSP00000431980:V142I	ENSP00000337265:V325I	V	+	1	0	0	OSBPL9	52010349	52010349	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.065000	0.57513	2.621000	0.88768	0.655000	0.94253	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				41	39		141	137	1		1	1		0	0	38	0		1	1	0	71	0	246	0	41	141
NRD1	4898	broad.mit.edu	37	1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	364					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCTCAATCTAGCATGTGT	0.323																																						ENST00000354831.7	0.970000	0.480000	8.900000e-01	6.000000e-01	0.740000	0.751302	0.740000	0.760000																										0				27						c.(1297-1299)aGa>aTa		nardilysin (N-arginine dibasic convertase)							101.0	98.0	99.0					1																	52289401		2203	4300	6503	SO:0001583	missense	4898	0	0					g.chr1:52289401C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1298G>T	chr1.hg19:g.52289401C>A	ENSP00000346890:p.Arg433Ile	1					NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR	p.R433I	NM_002525.2	NP_002516.2	0	1	1	1.827221	O43847	NRDC_HUMAN		9	1487	-			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	1	1	hg19	c.1298G>T	CCDS559.1	0	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891953	0.72524	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.38	5.38	0.77491	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.71184	0.933;0.96;0.972	T	0.45338	-0.9268	10	0.48119	T	0.1	-10.9322	19.1375	0.93433	0.0:1.0:0.0:0.0	.	365;364;433	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	I	365;433;301;365;233	ENSP00000262679:R365I;ENSP00000346890:R433I;ENSP00000444416:R301I;ENSP00000442262:R233I	ENSP00000262679:R365I	R	-	2	0	0	NRD1	52061989	52061989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.671000	0.68095	2.532000	0.85374	0.655000	0.94253	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-6.677630	1	0.170000	NM_002525			20	20		256	253	1		1	1		0	0	82	0		9.999956e-01	9.998386e-01	0	32	0	152	0	20	256
NRD1	4898	broad.mit.edu	37	1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	260					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403																																						ENST00000354831.7	1.000000	0.920000	1	9.600000e-01	0.980000	0.983122	0.980000	0.990000																										0				27						c.(985-987)Ggt>Tgt		nardilysin (N-arginine dibasic convertase)							167.0	158.0	161.0					1																	52299774		2203	4300	6503	SO:0001583	missense	4898	0	0					g.chr1:52299774C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.985G>T	chr1.hg19:g.52299774C>A	ENSP00000346890:p.Gly329Cys	1					MIR761_ENST00000390787.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR	p.G329C	NM_002525.2	NP_002516.2	0	1	1	1.827221	O43847	NRDC_HUMAN		6	1174	-			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	1	1	hg19	c.985G>T	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.109090	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	5.97	5.97	0.96955	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	H	0.98111	4.15	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	0.81129	-0.1073	10	0.87932	D	0	-14.0013	20.4238	0.99064	0.0:1.0:0.0:0.0	.	261;260;329	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	261;329;197;261;129	ENSP00000262679:G261C;ENSP00000346890:G329C;ENSP00000444416:G197C;ENSP00000442262:G129C	ENSP00000262679:G261C	G	-	1	0	0	NRD1	52072362	52072362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.834000	0.97654	0.650000	0.86243	GGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1		2	2	2	0		0	0	167		167	167	1	2.060000	-3.336677	1	0.170000	NM_002525			90	90		441	429	1		1	1		0	0	167	0		1	1	0	52	0	133	0	90	441
NRD1	4898	broad.mit.edu	37	1	52302111	52302111	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Splice_Site|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000352171.7_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463																																						ENST00000354831.7	1.000000	0.740000	9.900000e-01	8.500000e-01	0.930000	0.925000	0.930000	0.990000																										0				27						c.e4-1		nardilysin (N-arginine dibasic convertase)							29.0	29.0	29.0					1																	52302111		2202	4300	6502	SO:0001630	splice_region_variant	4898	0	0					g.chr1:52302111C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.765-1G>T	chr1.hg19:g.52302111C>A		1					MIR761_ENST00000390787.1_RNA|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	0	1	1	1.827221	O43847	NRDC_HUMAN		4	954	-			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	1	1	hg19		CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082348	0.55861	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	6.08	5.17	0.71159	6.08	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4518	0.50158	0.0:0.9176:0.0:0.0824	.	.	.	.	.	-1	.	.	.	-	.	.	.	NRD1	52074699	52074699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.584000	0.49913	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_002525	Intron		22	21		124	121	1		1	0		0	0	38	0		9.999991e-01	2.503174e-02	0	0	0	2	0	22	124
KTI12	112970	broad.mit.edu	37	1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	35							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687																																						ENST00000371614.1	0.980000	0.450000	9.100000e-01	6.000000e-01	0.760000	0.756963	0.760000	0.790000																										0				12						c.(103-105)gTg>gCg		KTI12 homolog, chromatin associated (S. cerevisiae)							23.0	24.0	24.0					1																	52499330		2203	4299	6502	SO:0001583	missense	112970	0	0					g.chr1:52499330A>G		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.104T>C	chr1.hg19:g.52499330A>G	ENSP00000360676:p.Val35Ala	1					TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	p.V35A	NM_138417.2	NP_612426.1	0	1	1	1.827221	Q96EK9	KTI12_HUMAN		1	158	-				Missense_Mutation	SNP	ENST00000371614.1	1	1	hg19	c.104T>C	CCDS562.1	0	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813943	0.50527	.	.	ENSG00000198841	ENST00000371614	T	0.35048	1.33	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.083649	0.47093	U	0.000257	T	0.45013	0.1321	M	0.67517	2.055	0.24520	N	0.994164	P	0.49090	0.919	P	0.49226	0.603	T	0.43343	-0.9397	10	0.44086	T	0.13	.	12.3295	0.55031	1.0:0.0:0.0:0.0	.	35	Q96EK9	KTI12_HUMAN	A	35	ENSP00000360676:V35A	ENSP00000360676:V35A	V	-	2	0	0	KTI12	52271918	52271918	1.000000	0.71417	0.423000	0.26634	0.039000	0.13416	4.761000	0.62243	2.127000	0.65507	0.533000	0.62120	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.399010	1	0.170000	NM_138417			14	14		169	167	0		1	1		0	0	36	0		9.997750e-01	4.287683e-01	0	5	0	13	0	14	169
ZFYVE9	9372	broad.mit.edu	37	1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000371591.1	+	3	761	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	210					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)			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						TGAATTCAGAGAAACAAATGG	0.368																																						ENST00000371591.1	1.000000	0.930000	1	9.600000e-01	0.980000	0.986157	0.980000	0.990000																										0				53						c.(628-630)gaG>gaT		zinc finger, FYVE domain containing 9							64.0	67.0	66.0					1																	52703719		2203	4300	6503	SO:0001583	missense	9372	0	0					g.chr1:52703719G>T	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.630G>T	chr1.hg19:g.52703719G>T	ENSP00000360647:p.Glu210Asp	1					ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D	p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	0	1	1	1.827221	O95405	ZFYV9_HUMAN		3	761	+			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	1	1	hg19	c.630G>T	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604550	0.46423	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.12	3.0	0.34707	5.12	3.0	0.34707	.	0.090443	0.45867	D	0.000335	T	0.46814	0.1412	N	0.24115	0.695	0.26594	N	0.973148	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.76071	0.987;0.97;0.986	T	0.26326	-1.0106	10	0.29301	T	0.29	.	5.8444	0.18657	0.4275:0.0:0.5725:0.0	.	210;210;210	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	210	ENSP00000349737:E210D;ENSP00000355358:E210D;ENSP00000287727:E210D;ENSP00000360647:E210D	ENSP00000287727:E210D	E	+	3	2	2	ZFYVE9	52476307	52476307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.675000	0.25232	0.558000	0.29135	0.655000	0.94253	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_007324			91	91		363	361	1		1	1		0	0	85	0		1	9.984614e-01	0	5	0	36	0	91	363
ZFYVE9	9372	broad.mit.edu	37	1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000371591.1	+	3	792	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	221					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)			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						TAGACCGAAAACAGAGGGGAG	0.373																																						ENST00000371591.1	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.941229	0.940000	0.990000																										0				53						c.(661-663)Aca>Cca		zinc finger, FYVE domain containing 9							89.0	92.0	91.0					1																	52703750		2203	4300	6503	SO:0001583	missense	9372	0	0					g.chr1:52703750A>C	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.661A>C	chr1.hg19:g.52703750A>C	ENSP00000360647:p.Thr221Pro	1					ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P	p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	0	1	1	1.827221	O95405	ZFYV9_HUMAN		3	792	+			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	1	1	hg19	c.661A>C	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953594	0.02285	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.12	-9.75	0.00506	5.12	-9.75	0.00506	.	0.651366	0.13926	N	0.353228	T	0.14485	0.0350	N	0.14661	0.345	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	0.05257	-1.0896	10	0.33940	T	0.23	.	1.5073	0.02489	0.2786:0.1846:0.3538:0.183	.	221;221;221	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	P	221	ENSP00000349737:T221P;ENSP00000355358:T221P;ENSP00000287727:T221P;ENSP00000360647:T221P	ENSP00000287727:T221P	T	+	1	0	0	ZFYVE9	52476338	52476338	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-1.926000	0.01562	-1.906000	0.01089	-1.410000	0.01125	ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_007324			59	59		487	482	1		1	0		0	0	108	0		1	9.468865e-01	0	1	0	41	0	59	487
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	C	T	rs140467530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.001					ENST00000371586.2	0.980000	0.530000	9.200000e-01	6.500000e-01	0.790000	0.788658	0.790000	0.810000																										1	Substitution - coding silent(1)	p.P480P(1)	lung(1)	27						c.(1438-1440)ccG>ccA		coiled-coil and C2 domain containing 1B		C		0,4406		0,0,2203	55.0	53.0	54.0		1440	-6.0	0.0	1	dbSNP_134	54	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CC2D1B	NM_032449.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		480/859	52824024	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	200014	40	121412	47				g.chr1:52824024C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1440G>A	chr1.hg19:g.52824024C>T		1					CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR	p.P480P	NM_032449.2	NP_115825.1	0	1	1	1.827221	Q5T0F9	C2D1B_HUMAN		13	1578	-			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	1	1	hg19	c.1440G>A	CCDS30714.1	0	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035508	0.02029	0.0	4.65E-4	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	Q	267;400	.	.	R	-	2	0	0	CC2D1B	52596612	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-11.859500	1	0.170000	NM_032449			24	23		287	280	0		1	1		0	0	66	0		9.999996e-01	9.688893e-01	0	17	0	53	0	24	287
CC2D1B	200014	broad.mit.edu	37	1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	366						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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGCCATCACTGGCTGCACT	0.652																																						ENST00000371586.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.984477	0.980000	0.990000																										0				27						c.(1096-1098)Gtg>Atg		coiled-coil and C2 domain containing 1B							39.0	43.0	41.0					1																	52824952		2203	4300	6503	SO:0001583	missense	200014	0	0					g.chr1:52824952C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1096G>A	chr1.hg19:g.52824952C>T	ENSP00000360642:p.Val366Met	1					CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR	p.V366M	NM_032449.2	NP_115825.1	0	1	1	1.827221	Q5T0F9	C2D1B_HUMAN		10	1234	-			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	1	1	hg19	c.1096G>A	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534462	0.45073	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26518	1.73;1.73	4.3	3.38	0.38709	4.3	3.38	0.38709	.	0.357869	0.22207	N	0.063158	T	0.24851	0.0603	L	0.55481	1.735	0.80722	D	1	B;B	0.32968	0.392;0.392	B;B	0.34779	0.157;0.189	T	0.04708	-1.0932	10	0.45353	T	0.12	-5.1845	9.661	0.39954	0.2081:0.7919:0.0:0.0	.	152;366	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	M	366;366;280	ENSP00000360642:V366M;ENSP00000284376:V366M	ENSP00000284376:V366M	V	-	1	0	0	CC2D1B	52597540	52597540	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.153000	0.42468	0.650000	0.86243	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	1	0	1		2	2	2	0		0	0	62		62	58	1	2.060000	-20.000000	1	0.170000	NM_032449			72	70		224	221	1		1	1		0	0	62	0		1	9.999996e-01	0	19	0	52	0	72	224
ZCCHC11	23318	broad.mit.edu	37	1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1539	Pro-rich.				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)			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						ATTGCCACAGGTCTGGCAGCA	0.557																																						ENST00000371544.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.978817	0.980000	0.990000																										0				58						c.(4615-4617)Cct>Tct		zinc finger, CCHC domain containing 11							116.0	104.0	108.0					1																	52896778		2203	4300	6503	SO:0001583	missense	23318	0	0					g.chr1:52896778G>A	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.4615C>T	chr1.hg19:g.52896778G>A	ENSP00000360599:p.Pro1539Ser	1					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	p.P1539S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	0	1	1	1.827221	Q5TAX3	TUT4_HUMAN		28	4877	-			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	1	1	hg19	c.4615C>T	CCDS30716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618452|3.618452	0.66787|0.66787	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.49432|.	0.78;0.79|.	5.38|5.38	4.47|4.47	0.54385|0.54385	5.38|5.38	4.47|4.47	0.54385|0.54385	.|.	0.376195|.	0.27513|.	N|.	0.019037|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.36027|.	0.533|.	B|.	0.30943|.	0.122|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.19147|.	T|.	0.46|.	.|.	10.2182|10.2182	0.43182|0.43182	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	1539|.	Q5TAX3|.	TUT4_HUMAN|.	S|I	1540;1539|41	ENSP00000257177:P1540S;ENSP00000360599:P1539S|.	ENSP00000257177:P1540S|.	P|T	-|-	1|2	0|0	0|0	ZCCHC11|ZCCHC11	52669366|52669366	52669366|52669366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.062000|5.062000	0.64326|0.64326	1.275000|1.275000	0.44379|0.44379	0.563000|0.563000	0.77884|0.77884	CCT|ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	XM_038288			63	61		255	250	1		1	1		0	0	75	0		1	9.998639e-01	0	16	0	40	0	63	255
ZCCHC11	23318	broad.mit.edu	37	1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	729					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)			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						TTGCTTATTTTCCCCTTCTCT	0.408																																						ENST00000371544.3	1.000000	0.960000	1	9.800000e-01	0.990000	0.994229	0.990000	1.000000																										0				58						c.(2185-2187)Aaa>Gaa		zinc finger, CCHC domain containing 11							140.0	144.0	143.0					1																	52941046		2203	4300	6503	SO:0001583	missense	23318	0	0					g.chr1:52941046T>C	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.2185A>G	chr1.hg19:g.52941046T>C	ENSP00000360599:p.Lys729Glu	1					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E|ZCCHC11_ENST00000371541.1_5'UTR	p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	0	1	1	1.827221	Q5TAX3	TUT4_HUMAN		13	2447	-			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	1	1	hg19	c.2185A>G	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525816	0.44969	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.52295	0.67;0.68;0.7;0.74	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.209202	0.49305	D	0.000159	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B;P	0.44429	0.209;0.835	B;B	0.35278	0.051;0.199	T	0.18967	-1.0320	10	0.06365	T	0.9	.	10.0083	0.41970	0.0:0.0758:0.0:0.9242	.	488;729	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	729;729;658;488	ENSP00000257177:K729E;ENSP00000360599:K729E;ENSP00000433486:K658E;ENSP00000435256:K488E	ENSP00000257177:K729E	K	-	1	0	0	ZCCHC11	52713634	52713634	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	2.911000	0.48774	2.077000	0.62373	0.455000	0.32223	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1		2	2	2	0		0	0	164		164	163	1	2.060000	-20.000000	1	0.170000	XM_038288			171	167		604	593	1		1	1		0	0	164	0		1	9.997610e-01	0	9	0	36	0	171	604
ZCCHC11	23318	broad.mit.edu	37	1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	165					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)			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						CAACAGTAAACTGGGTCCCTT	0.383																																						ENST00000371544.3	1.000000	0.870000	1	9.300000e-01	0.970000	0.967604	0.970000	0.990000																										0				58						c.(493-495)aGt>aAt		zinc finger, CCHC domain containing 11							188.0	195.0	192.0					1																	52991459		2203	4300	6503	SO:0001583	missense	23318	0	0					g.chr1:52991459C>T	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.494G>A	chr1.hg19:g.52991459C>T	ENSP00000360599:p.Ser165Asn	1					ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR	p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	0	1	1	1.827221	Q5TAX3	TUT4_HUMAN		2	756	-			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	1	1	hg19	c.494G>A	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639883	0.14386	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.51574	0.7;0.81;0.8	4.58	2.61	0.31194	4.58	2.61	0.31194	.	1.264840	0.05126	N	0.491576	T	0.37293	0.0998	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.22277	-1.0221	10	0.31617	T	0.26	.	6.7983	0.23736	0.0:0.7609:0.0:0.2391	.	165;165;165;165	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	165	ENSP00000257177:S165N;ENSP00000360599:S165N;ENSP00000433486:S165N	ENSP00000257177:S165N	S	-	2	0	0	ZCCHC11	52764047	52764047	0.009000	0.17119	0.289000	0.24876	0.924000	0.55760	-0.119000	0.10676	0.572000	0.29383	0.655000	0.94253	AGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	XM_038288			116	113		939	917	1		1	1		0	0	158	0		1	9.830844e-01	0	9	0	44	0	116	939
FAM159A	348378	broad.mit.edu	37	1	53108559	53108559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	69						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522																																						ENST00000517870.1	1.000000	0.970000	1	9.800000e-01	0.990000	0.996407	0.990000	1.000000																										0				10						c.(205-207)tcC>tcT		family with sequence similarity 159, member A							267.0	258.0	261.0					1																	53108559		2083	4193	6276	SO:0001819	synonymous_variant	348378	3	121018	41				g.chr1:53108559C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.207C>T	chr1.hg19:g.53108559C>T		1					FAM159A_ENST00000401050.3_3'UTR	p.S69S	NM_001042693.1	NP_001036158.1	0	1	1	1.827221	Q6UWV7	F159A_HUMAN		2	357	+			Q6ZRG4	Silent	SNP	ENST00000517870.1	1	1	hg19	c.207C>T	CCDS41336.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	1	0	1		2	2	2	0		0	0	265		265	263	1	2.060000	-3.595024	1	0.170000	NM_001042693			254	247		953	927	1		1	0		0	0	265	0		1	1.149317e-01	0	0	0	3	0	254	953
FAM159A	348378	broad.mit.edu	37	1	53122577	53122577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	146						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577																																						ENST00000517870.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.992596	0.990000	0.990000																										0				10						c.(436-438)agC>agT		family with sequence similarity 159, member A							96.0	103.0	101.0					1																	53122577		2030	4205	6235	SO:0001819	synonymous_variant	348378	1	120970	33				g.chr1:53122577C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.438C>T	chr1.hg19:g.53122577C>T		1					FAM159A_ENST00000401050.3_Intron	p.S146S	NM_001042693.1	NP_001036158.1	0	1	1	1.827221	Q6UWV7	F159A_HUMAN		3	588	+			Q6ZRG4	Silent	SNP	ENST00000517870.1	1	1	hg19	c.438C>T	CCDS41336.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	1	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-20.000000	1	0.170000	NM_001042693			140	139		488	484	0		1	0		0	0	144	0		1	5.020662e-02	0	0	0	2	0	140	488
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F|ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393																																						ENST00000294353.6	1.000000	0.920000	1	9.500000e-01	0.980000	0.982619	0.980000	0.990000																										0				30						c.(808-810)tCt>tTt		zyg-11 family member B, cell cycle regulator							87.0	80.0	82.0					1																	53237304		2203	4300	6503	SO:0001583	missense	79699	0	0					g.chr1:53237304C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.809C>T	chr1.hg19:g.53237304C>T	ENSP00000294353:p.Ser270Phe	1					ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	p.S270F	NM_024646.2	NP_078922.1	0	1	1	1.827221	Q9C0D3	ZY11B_HUMAN		3	954	+			Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	1	1	hg19	c.809C>T	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431254	0.83776	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.02197	4.4;4.4;4.4	5.26	5.26	0.73747	5.26	5.26	0.73747	Armadillo-type fold (1);	0.099216	0.64402	D	0.000001	T	0.09686	0.0238	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.98;0.992	T	0.44003	-0.9356	10	0.07813	T	0.8	.	19.1243	0.93376	0.0:1.0:0.0:0.0	.	270;270	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	270	ENSP00000400522:S270F;ENSP00000441315:S270F;ENSP00000294353:S270F	ENSP00000294353:S270F	S	+	2	0	0	ZYG11B	53009892	53009892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.532000	0.81985	2.741000	0.93983	0.650000	0.86243	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_024646			69	67		241	238	1		1	1		0	0	79	0		1	9.999399e-01	0	13	0	40	0	69	241
ZYG11B	79699	broad.mit.edu	37	1	53262444	53262444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000443756.2_Silent_p.L491L|ZYG11B_ENST00000545132.1_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	491										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338																																						ENST00000294353.6	1.000000	0.910000	1	9.500000e-01	0.980000	0.981696	0.980000	0.990000																										0				30						c.(1471-1473)ctC>ctT		zyg-11 family member B, cell cycle regulator							143.0	132.0	136.0					1																	53262444		2203	4300	6503	SO:0001819	synonymous_variant	79699	0	0					g.chr1:53262444C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1473C>T	chr1.hg19:g.53262444C>T		1					ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	p.L491L	NM_024646.2	NP_078922.1	0	1	1	1.827221	Q9C0D3	ZY11B_HUMAN		8	1618	+			Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	1	1	hg19	c.1473C>T	CCDS30717.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-4.303930	1	0.170000	NM_024646			64	63		211	207	1		1	1		0	0	71	0		1	9.991465e-01	0	8	0	30	0	64	211
ECHDC2	55268	broad.mit.edu	37	1	53370467	53370467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000371522.4	-	7	646	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	185					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637																																						ENST00000371522.4	1.000000	0.670000	9.800000e-01	7.900000e-01	0.900000	0.888477	0.900000	0.990000																										0				12						c.(553-555)Ctg>Ttg		enoyl CoA hydratase domain containing 2							40.0	37.0	38.0					1																	53370467		2203	4300	6503	SO:0001819	synonymous_variant	55268	0	0					g.chr1:53370467G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.553C>T	chr1.hg19:g.53370467G>A		1					ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	p.L185L	NM_001198961.1	NP_001185890.1	0	1	1	1.827221	Q86YB7	ECHD2_HUMAN		7	646	-			D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	1	1	hg19	c.553C>T	CCDS55600.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-20.000000	1	0.170000	NM_018281			25	25		214	207	1		1	1		0	0	38	0		9.999998e-01	9.999817e-01	0	27	0	126	0	25	214
SCP2	6342	broad.mit.edu	37	1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000528311.1	+	8	790	c.494G>A	c.(493-495)gGc>gAc	p.G165D	SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000473584.1_3'UTR	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	292					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408																																						ENST00000528311.1	0.990000	0.570000	9.500000e-01	7.100000e-01	0.840000	0.836298	0.840000	0.930000																										0				15						c.(493-495)gGc>gAc		sterol carrier protein 2							97.0	94.0	95.0					1																	53443951		2203	4300	6503	SO:0001583	missense	6342	0	0					g.chr1:53443951G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.494G>A	chr1.hg19:g.53443951G>A	ENSP00000434132:p.Gly165Asp	1					SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D	p.G165D	NM_001193617.1	NP_001180546.1	0	1	1	1.827221	Q9BX26	SYCP2_HUMAN		8	790	+			A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	1	1	hg19	c.494G>A	CCDS53319.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.627|5.627	0.300414|0.300414	0.10678|0.10678	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95885	.|-3.84;-0.6;-3.84;-3.84;-3.84	5.17|5.17	-1.38|-1.38	0.09027|0.09027	5.17|5.17	-1.38|-1.38	0.09027|0.09027	.|Thiolase-like (1);	.|0.789478	.|0.12497	.|N	.|0.463694	D|D	0.94072|0.94072	0.8100|0.8100	M|M	0.79693|0.79693	2.465|2.465	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31174	.|0.311;0.027;0.059;0.021	.|B;B;B;B	.|0.31442	.|0.13;0.009;0.033;0.02	D|D	0.87879|0.87879	0.2676|0.2676	5|10	.|0.52906	.|T	.|0.07	0.0831|0.0831	11.4404|11.4404	0.50094|0.50094	0.5016:0.0:0.4984:0.0|0.5016:0.0:0.4984:0.0	.|.	.|222;202;246;202	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	T|D	192|246;165;202;222;202	.|ENSP00000360569:G246D;ENSP00000434132:G165D;ENSP00000360564:G202D;ENSP00000384569:G222D;ENSP00000360568:G202D	.|ENSP00000360564:G202D	A|G	+|+	1|2	0|0	0|0	SCP2|SCP2	53216539|53216539	53216539|53216539	0.007000|0.007000	0.16637|0.16637	0.004000|0.004000	0.12327|0.12327	0.059000|0.059000	0.15707|0.15707	0.695000|0.695000	0.25527|0.25527	-0.111000|-0.111000	0.12001|0.12001	-0.781000|-0.781000	0.03364|0.03364	GCC|GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-8.645386	1	0.170000	NM_002979			20	19		202	200	1		1	1		0	0	37	0		9.999956e-01	9.998799e-01	0	28	0	125	0	20	202
SLC1A7	6512	broad.mit.edu	37	1	53556405	53556405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	ENST00000371494.4	-	8	1232	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	369					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGGGCAGCACGAAGCGAGCG	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4	0.740000	0.140000	5.600000e-01	2.400000e-01	0.380000	0.411257	0.380000	0.350000																										0				26						c.(1105-1107)Gtg>Atg		solute carrier family 1 (glutamate transporter), member 7							118.0	83.0	95.0					1																	53556405		2203	4300	6503	SO:0001583	missense	6512	6	121388	33				g.chr1:53556405C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1105G>A	chr1.hg19:g.53556405C>T	ENSP00000360549:p.Val369Met	1					SLC1A7_ENST00000488036.1_5'UTR	p.V369M	NM_006671.4	NP_006662.3	0	1	1	1.827221	O00341	EAA5_HUMAN		8	1232	-			Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	0	1	hg19	c.1105G>A	CCDS574.1	0	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191525	0.78902	.	.	ENSG00000162383	ENST00000371494	T	0.66460	-0.21	5.34	4.43	0.53597	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.89565	0.3809	10	0.72032	D	0.01	-3.4286	13.9422	0.64062	0.0:0.9265:0.0:0.0735	.	369	O00341	EAA5_HUMAN	M	369	ENSP00000360549:V369M	ENSP00000360549:V369M	V	-	1	0	0	SLC1A7	53328993	53328993	1.000000	0.71417	0.937000	0.37676	0.715000	0.41141	6.089000	0.71384	1.263000	0.44181	0.313000	0.20887	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	0	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-7.638592	1	0.170000	NM_006671			5	5		139	136	0		1	0		0	0	25	0		9.351647e-01	2.540043e-02	0	1	0	5	0	5	139
SLC1A7	6512	broad.mit.edu	37	1	53608004	53608004	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	ENST00000371494.4	-	1	245	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	40					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GAGAGGCGCCGGGTCCTCAAG	0.647																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4	1.000000	0.500000	9.700000e-01	6.900000e-01	0.860000	0.838608	0.860000	0.990000																										0				26						c.(118-120)Cgg>Tgg		solute carrier family 1 (glutamate transporter), member 7							89.0	65.0	73.0					1																	53608004		2192	4286	6478	SO:0001583	missense	6512	0	0					g.chr1:53608004G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.118C>T	chr1.hg19:g.53608004G>A	ENSP00000360549:p.Arg40Trp	1					SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	p.R40W	NM_006671.4	NP_006662.3	0	1	1	1.827221	O00341	EAA5_HUMAN		1	245	-			Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	0	1	hg19	c.118C>T	CCDS574.1	1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296002	0.60086	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.58652	0.32;0.32	5.53	4.56	0.56223	5.53	4.56	0.56223	.	0.349234	0.27730	N	0.018100	T	0.55386	0.1917	N	0.24115	0.695	0.37736	D	0.925439	D;B	0.57899	0.981;0.205	P;P	0.56788	0.806;0.67	T	0.58301	-0.7660	10	0.41790	T	0.15	-7.2551	11.5809	0.50891	0.0:0.0:0.6608:0.3392	.	40;40	Q9BW45;O00341	.;EAA5_HUMAN	W	40	ENSP00000360549:R40W;ENSP00000360546:R40W	ENSP00000360546:R40W	R	-	1	2	2	SLC1A7	53380592	53380592	0.893000	0.30496	1.000000	0.80357	0.629000	0.37895	2.726000	0.47302	2.602000	0.87976	0.555000	0.69702	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-14.120180	1	0.170000	NM_006671			6	5		23	23	0		1			0	0	8	0		9.672082e-01	0	0	0	0	0	0	6	23
CPT2	1376	broad.mit.edu	37	1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	320					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)			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)	AAAGTGGACTCGGCAGTGTTC	0.537																																						ENST00000371486.3	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.934390	0.940000	0.990000																										0				15						c.(958-960)tCg>tTg		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						87.0	81.0	83.0					1																	53676305		2203	4300	6503	SO:0001583	missense	1376	1	121412	34				g.chr1:53676305C>T	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.959C>T	chr1.hg19:g.53676305C>T	ENSP00000360541:p.Ser320Leu	1					RP5-1024G6.2_ENST00000452466.1_RNA	p.S320L	NM_000098.2	NP_000089.1	0	1	1	1.827221	P23786	CPT2_HUMAN		4	1474	+			B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	1	1	hg19	c.959C>T	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894892	0.72639	.	.	ENSG00000157184	ENST00000371486	D	0.91295	-2.82	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.206216	0.50627	D	0.000101	D	0.96842	0.8969	H	0.94964	3.605	0.45415	D	0.998399	D	0.89917	1.0	D	0.74023	0.982	D	0.97558	1.0096	10	0.72032	D	0.01	-27.5427	19.4394	0.94811	0.0:1.0:0.0:0.0	.	320	P23786	CPT2_HUMAN	L	320	ENSP00000360541:S320L	ENSP00000360541:S320L	S	+	2	0	0	CPT2	53448893	53448893	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.438000	0.52871	2.581000	0.87130	0.655000	0.94253	TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-2.966613	1	0.170000	NM_000098			43	43		334	330	1		1	1		0	0	82	0		1	9.901818e-01	0	12	0	46	0	43	334
LRP8	7804	broad.mit.edu	37	1	53716509	53716509	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000306052.6	-	17	2630	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000354412.3_Silent_p.S639S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	843					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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498																																						ENST00000306052.6	1.000000	0.710000	9.800000e-01	8.100000e-01	0.910000	0.901652	0.910000	0.990000																										0				21						c.(2527-2529)agT>agC		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							171.0	150.0	157.0					1																	53716509		2203	4300	6503	SO:0001819	synonymous_variant	7804	0	0					g.chr1:53716509A>G	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.2529T>C	chr1.hg19:g.53716509A>G		1					LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000354412.3_Silent_p.S639S	p.S843S	NM_004631.4	NP_004622.2	0	1	1	1.827221	Q14114	LRP8_HUMAN		17	2630	-			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	1	1	hg19	c.2529T>C	CCDS578.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-13.631560	1	0.170000	NM_004631			39	38		358	344	0		1	1		0	0	94	0		1	8.949669e-01	0	8	0	30	0	39	358
LRP8	7804	broad.mit.edu	37	1	53746293	53746293	+	Silent	SNP	G	G	A	rs558436036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000306052.6	-	4	563	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000354412.3_Silent_p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	154	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642																																						ENST00000306052.6	1.000000	0.880000	1	9.400000e-01	0.970000	0.971905	0.970000	0.990000																										0				21						c.(460-462)tgC>tgT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							110.0	81.0	91.0					1																	53746293		2203	4300	6503	SO:0001819	synonymous_variant	7804	1	121412	34				g.chr1:53746293G>A	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.462C>T	chr1.hg19:g.53746293G>A		1					LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.C154C	p.C154C	NM_004631.4	NP_004622.2	0	1	1	1.827221	Q14114	LRP8_HUMAN		4	563	-			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	1	1	hg19	c.462C>T	CCDS578.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_004631			50	48		213	209	1		1	1		0	0	64	0		1	6.497847e-01	0	3	0	8	0	50	213
GLIS1	148979	broad.mit.edu	37	1	53975654	53975654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53975654G>A	ENST00000312233.2	-	8	1971	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCCCCAGCCCCTTCAGG	0.687																																						ENST00000312233.2	1.000000	0.620000	9.800000e-01	7.800000e-01	0.900000	0.884523	0.900000	0.990000																										0				24						c.(1405-1407)Ctg>Ttg		GLIS family zinc finger 1							10.0	12.0	11.0					1																	53975654		2169	4237	6406	SO:0001819	synonymous_variant	148979	0	0					g.chr1:53975654G>A	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.1405C>T	chr1.hg19:g.53975654G>A		1						p.L469L	NM_147193.2	NP_671726.2	0	1	1	1.827221				8	1971	-				Silent	SNP	ENST00000312233.2	1	1	hg19	c.1405C>T	CCDS582.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.645570	1	0.170000	NM_147193			10	10		41	40	0		1	0		0	0	12	0		9.976117e-01	0	0	0	0	1	0	10	41
YIPF1	54432	broad.mit.edu	37	1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	69						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTCTTCTGTCCAGCAAGTAA	0.393																																						ENST00000072644.1	1.000000	0.620000	9.600000e-01	7.500000e-01	0.870000	0.860188	0.870000	0.970000																										0				19						c.(205-207)gGa>gAa		Yip1 domain family, member 1							78.0	81.0	80.0					1																	54344385		2203	4300	6503	SO:0001583	missense	54432	0	0					g.chr1:54344385C>T	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.206G>A	chr1.hg19:g.54344385C>T	ENSP00000072644:p.Gly69Glu	1					YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E|YIPF1_ENST00000371399.1_5'UTR	p.G69E	NM_018982.4	NP_061855.1	0	1	1	1.827221	Q9Y548	YIPF1_HUMAN		5	542	-			B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	1	1	hg19	c.206G>A	CCDS584.1	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993707	0.54041	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.52609	-0.8553	9	0.11794	T	0.64	-0.3282	17.341	0.87296	0.0:1.0:0.0:0.0	.	69	Q9Y548	YIPF1_HUMAN	E	69;94;69	.	ENSP00000072644:G69E	G	-	2	0	0	YIPF1	54116973	54116973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.317000	0.59184	2.478000	0.83669	0.591000	0.81541	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_018982			25	25		244	239	1		1	1		0	0	50	0		9.999998e-01	9.999876e-01	0	29	0	151	0	25	244
HSPB11	51668	broad.mit.edu	37	1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	124					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348																																						ENST00000194214.5	1.000000	0.690000	9.800000e-01	8.000000e-01	0.900000	0.893386	0.900000	0.990000																										0				9						c.(370-372)gAt>gCt		heat shock protein family B (small), member 11							120.0	111.0	114.0					1																	54387388		1879	4126	6005	SO:0001583	missense	51668	0	0					g.chr1:54387388T>G	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.371A>C	chr1.hg19:g.54387388T>G	ENSP00000194214:p.Asp124Ala	1					HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	p.D124A	NM_016126.2	NP_057210.2	0	1	1	1.827221	Q9Y547	IFT25_HUMAN		6	760	-			A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	1	1	hg19	c.371A>C	CCDS41341.1	1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406711	0.62399	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.46	5.46	0.80206	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.64567	1.98	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.81915	-0.0714	10	0.35671	T	0.21	-25.3596	11.9234	0.52806	0.0:0.0:0.0:1.0	.	124	Q9Y547	HSB11_HUMAN	A	124	ENSP00000194214:D124A;ENSP00000360429:D124A	ENSP00000194214:D124A	D	-	2	0	0	HSPB11	54159976	54159976	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.426000	0.59882	2.089000	0.63090	0.533000	0.62120	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-12.248610	1	0.170000	NM_016126			36	35		336	333	1		1	1		0	0	81	0		1	9.998745e-01	0	16	0	112	0	36	336
LRRC42	115353	broad.mit.edu	37	1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	140										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGCTTTACAGAAATTCACTGA	0.463																																						ENST00000371370.3	1.000000	0.630000	9.700000e-01	7.500000e-01	0.870000	0.866418	0.870000	0.990000																										0				9						c.(418-420)Aaa>Caa		leucine rich repeat containing 42							65.0	65.0	65.0					1																	54418090		2203	4300	6503	SO:0001583	missense	115353	0	0					g.chr1:54418090A>C	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.418A>C	chr1.hg19:g.54418090A>C	ENSP00000360421:p.Lys140Gln	1					LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	p.K140Q	NM_001256409.1	NP_001243338.1	0	1	1	1.827221	Q9Y546	LRC42_HUMAN		3	939	+			D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	1	1	hg19	c.418A>C	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190926	0.58017	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.113302	0.64402	D	0.000017	T	0.61502	0.2352	N	0.24115	0.695	0.38195	D	0.940032	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.74674	0.943;0.984;0.879	T	0.59343	-0.7472	9	0.15952	T	0.53	-17.9803	15.9419	0.79763	1.0:0.0:0.0:0.0	.	140;140;140	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Q	140	.	ENSP00000318185:K140Q	K	+	1	0	0	LRRC42	54190678	54190678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.235000	0.73313	0.459000	0.35465	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_052940			25	25		238	232	1		1	1		0	0	73	0		9.999998e-01	9.999923e-01	0	33	0	151	0	25	238
LRRC42	115353	broad.mit.edu	37	1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	204										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCTAGTGTAACTCAGCTCCAC	0.358																																						ENST00000371370.3	0.670000	0.260000	5.600000e-01	3.400000e-01	0.440000	0.459115	0.440000	0.440000																										0				9						c.(610-612)aCt>aTt		leucine rich repeat containing 42							122.0	122.0	122.0					1																	54426034		2203	4300	6503	SO:0001583	missense	115353	0	0					g.chr1:54426034C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.611C>T	chr1.hg19:g.54426034C>T	ENSP00000360421:p.Thr204Ile	1					LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	p.T204I	NM_001256409.1	NP_001243338.1	0	1	1	1.827221	Q9Y546	LRC42_HUMAN		5	1132	+			D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	1	1	hg19	c.611C>T	CCDS585.1	0	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560599	0.45590	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.31769	5.4;5.4;1.48	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.172887	0.50627	D	0.000106	T	0.18467	0.0443	N	0.19112	0.55	0.35667	D	0.813013	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.15752	-1.0426	10	0.59425	D	0.04	-17.1487	10.0635	0.42288	0.1474:0.7809:0.0:0.0717	.	204;204	E7EP35;Q9Y546	.;LRC42_HUMAN	I	204	ENSP00000360421:T204I;ENSP00000318185:T204I;ENSP00000389368:T204I	ENSP00000318185:T204I	T	+	2	0	0	LRRC42	54198622	54198622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.393000	0.44442	2.941000	0.99782	0.655000	0.94253	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-17.306620	1	0.170000	NM_052940			17	16		393	392	0		1	1		0	0	88	0		9.999650e-01	9.915551e-01	0	19	0	162	0	17	393
LRRC42	115353	broad.mit.edu	37	1	54433606	54433606	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1). {ECO:0000305}.						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388																																						ENST00000371370.3	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.901042	0.910000	0.990000																										0				9						c.(1279-1281)tcC>tcA		leucine rich repeat containing 42							78.0	83.0	81.0					1																	54433606		2203	4300	6503	SO:0001819	synonymous_variant	115353	0	0					g.chr1:54433606C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1281C>A	chr1.hg19:g.54433606C>A		1					LRRC42_ENST00000319223.4_Silent_p.S427S	p.S427S	NM_001256409.1	NP_001243338.1	0	1	1	1.827221	Q9Y546	LRC42_HUMAN		9	1802	+			D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	1	1	hg19	c.1281C>A	CCDS585.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-2.540643	1	0.170000	NM_052940			33	33		290	287	1		1	1		0	0	63	0		1	9.999957e-01	0	33	0	136	0	33	290
LDLRAD1	388633	broad.mit.edu	37	1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	166	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597																																						ENST00000371360.1	1.000000	0.720000	9.700000e-01	8.100000e-01	0.900000	0.897243	0.900000	0.950000																										0				7						c.(496-498)gGg>gAg		low density lipoprotein receptor class A domain containing 1							100.0	96.0	97.0					1																	54474776		2203	4300	6503	SO:0001583	missense	388633	0	0					g.chr1:54474776C>T		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.497G>A	chr1.hg19:g.54474776C>T	ENSP00000360411:p.Gly166Glu	1					LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E	p.G166E	NM_001010978.2	NP_001010978.2	0	1	1	1.827221	Q5T700	LRAD1_HUMAN		6	514	-			A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	1	1	hg19	c.497G>A	CCDS30725.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239336	0.39598	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.5	3.5	0.40072	4.5	3.5	0.40072	.	0.116551	0.38897	N	0.001529	T	0.81983	0.4938	M	0.63428	1.95	0.36118	D	0.845287	B;B	0.12013	0.0;0.005	B;B	0.11329	0.002;0.006	T	0.71087	-0.4694	10	0.08381	T	0.77	-21.6953	4.3843	0.11309	0.0:0.7093:0.0:0.2907	.	123;166	B7ZME3;Q5T700	.;LRAD1_HUMAN	E	77;166;123;127	ENSP00000360413:G77E;ENSP00000360411:G166E;ENSP00000445871:G123E;ENSP00000411017:G127E	ENSP00000360411:G166E	G	-	2	0	0	LDLRAD1	54247364	54247364	0.019000	0.18553	0.980000	0.43619	0.607000	0.37147	0.674000	0.25218	2.348000	0.79779	0.655000	0.94253	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.221883	1	0.170000	NM_001010978			63	63		640	624	0		1			0	0	131	0		1	0	0	0	0	0	0	63	640
TMEM59	9528	broad.mit.edu	37	1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371341.1_Intron|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	51					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647																																						ENST00000234831.5	1.000000	0.920000	1	9.500000e-01	0.980000	0.982032	0.980000	0.990000																										0				7						c.(151-153)Gcc>Acc		transmembrane protein 59							71.0	77.0	75.0					1																	54518711		2203	4300	6503	SO:0001583	missense	9528	0	0					g.chr1:54518711C>T	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.151G>A	chr1.hg19:g.54518711C>T	ENSP00000234831:p.Ala51Thr	1					TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	p.A51T	NM_004872.3	NP_004863.2	0	1	1	1.827221	Q9BXS4	TMM59_HUMAN		1	400	-			B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	1	1	hg19	c.151G>A	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074046	0.36566	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.44881	0.94;0.95;0.91	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.234093	0.44285	D	0.000470	T	0.23370	0.0565	N	0.16368	0.405	0.40796	D	0.98329	B;B;B;B	0.22276	0.067;0.067;0.01;0.01	B;B;B;B	0.17098	0.017;0.008;0.003;0.002	T	0.07751	-1.0756	10	0.05351	T	0.99	-16.0678	13.0808	0.59114	0.0:0.9235:0.0:0.0765	.	51;51;51;51	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	T	51	ENSP00000234831:A51T;ENSP00000397772:A51T;ENSP00000360388:A51T	ENSP00000234831:A51T	A	-	1	0	0	TMEM59	54291299	54291299	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.736000	0.38187	2.653000	0.90120	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_004872			76	73		325	319	1		1	1		0	0	71	0		1	1	0	383	0	908	0	76	325
CDCP2	200008	broad.mit.edu	37	1	54606931	54606931	+	Silent	SNP	G	G	A	rs201306595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	201	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.0					ENST00000371330.1	1.000000	0.880000	1	9.300000e-01	0.970000	0.971287	0.970000	0.990000																										0				24						c.(601-603)gaC>gaT		CUB domain containing protein 2							72.0	66.0	68.0					1																	54606931		2203	4300	6503	SO:0001819	synonymous_variant	200008	1	121412	27				g.chr1:54606931G>A		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.603C>T	chr1.hg19:g.54606931G>A		1					CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'UTR	p.D201D	NM_201546.2	NP_963840.2	0	1	1	1.827221	Q5VXM1	CDCP2_HUMAN		3	1450	-			Q6ZWJ3	Silent	SNP	ENST00000371330.1	1	1	hg19	c.603C>T	CCDS588.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_201546			49	47		209	206	1		1	0		0	0	46	0		1	0	0	1	0	0	0	49	209
CYB5RL	606495	broad.mit.edu	37	1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000534324.1	-	6	915	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	RP11-446E24.4_ENST00000525949.1_5'Flank|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	306							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557																																						ENST00000534324.1	0.960000	0.250000	8.300000e-01	4.000000e-01	0.610000	0.620193	0.610000	0.600000																										0				8						c.(916-918)Ggc>Agc		cytochrome b5 reductase-like							38.0	41.0	40.0					1																	54640324		1987	4173	6160	SO:0001583	missense	606495	0	0					g.chr1:54640324C>T		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.916G>A	chr1.hg19:g.54640324C>T	ENSP00000434343:p.Gly306Ser	1					RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|RP11-446E24.4_ENST00000525949.1_5'Flank	p.G306S			0	1	1	1.827221	Q6IPT4	NB5R5_HUMAN		6	915	-			B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	0	1	hg19	c.916G>A	CCDS44151.1	0	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936381	0.92458	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.96619	-2.78;-4.07;-2.78;-2.96;-2.78;-2.96	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.39544	U	0.001321	D	0.96210	0.8764	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.74674	0.921;0.984	D	0.96630	0.9466	10	0.54805	T	0.06	-19.7195	16.9666	0.86287	0.0:1.0:0.0:0.0	.	306;158	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	306;158;306;238;306;238	ENSP00000409075:G306S;ENSP00000383825:G158S;ENSP00000434343:G306S;ENSP00000287899:G238S;ENSP00000438151:G306S;ENSP00000443797:G238S	ENSP00000287899:G238S	G	-	1	0	0	CYB5RL	54412912	54412912	0.999000	0.42202	0.960000	0.40013	0.863000	0.49368	5.162000	0.64942	2.672000	0.90937	0.555000	0.69702	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-9.519664	1	0.170000	NM_001031672			5	5		77	75	0		1	0		0	0	19	0		9.354753e-01	1.633200e-01	0	1	0	9	0	5	77
MRPL37	51253	broad.mit.edu	37	1	54670848	54670848	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000360840.5	+	2	581	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Silent_p.E168E|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	168					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGACCACTGAGGAAATCCCCA	0.473																																						ENST00000360840.5	1.000000	0.920000	1	9.500000e-01	0.980000	0.982321	0.980000	0.990000																										0				19						c.(502-504)gaG>gaA		mitochondrial ribosomal protein L37							93.0	91.0	92.0					1																	54670848		2203	4300	6503	SO:0001819	synonymous_variant	51253	0	0					g.chr1:54670848G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.504G>A	chr1.hg19:g.54670848G>A		1					MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000605337.1_Silent_p.E168E	p.E168E	NM_016491.3	NP_057575.2	0	1	1	1.827221	Q9BZE1	RM37_HUMAN		2	581	+			Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	1	1	hg19	c.504G>A	CCDS589.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.344937	1	0.170000	NM_016491			71	70		268	263	1		1	1		0	0	93	0		1	1	0	167	0	190	0	71	268
FAM151A	338094	broad.mit.edu	37	1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	439						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637																																						ENST00000302250.2	1.000000	0.880000	1	9.300000e-01	0.970000	0.971614	0.970000	0.990000																										0				12						c.(1315-1317)tgG>tgA		family with sequence similarity 151, member A							37.0	40.0	39.0					1																	55075382		2203	4300	6503	SO:0001587	stop_gained	338094	0	0					g.chr1:55075382C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1317G>A	chr1.hg19:g.55075382C>T	ENSP00000306888:p.Trp439*	1					ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	p.W439*	NM_176782.2	NP_788954.2	0	1	1	1.827221	Q8WW52	F151A_HUMAN		8	1477	-			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Nonsense_Mutation	SNP	ENST00000302250.2	0	1	hg19	c.1317G>A	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643285	0.67244	.	.	ENSG00000162391	ENST00000302250	.	.	.	4.17	0.174	0.15040	4.17	0.174	0.15040	.	0.890365	0.09587	N	0.782015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.8283	0.8298	0.01128	0.166:0.3896:0.1617:0.2827	.	.	.	.	X	439	.	ENSP00000306888:W439X	W	-	3	0	0	FAM151A	54847970	54847970	0.018000	0.18449	0.195000	0.23364	0.279000	0.26890	-0.118000	0.10692	0.040000	0.15660	-0.137000	0.14449	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_176782			50	49		216	214	0		1	1		0	0	53	0		1	8.537494e-01	0	6	0	11	0	50	216
FAM151A	338094	broad.mit.edu	37	1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	166						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557																																						ENST00000302250.2	1.000000	0.920000	1	9.500000e-01	0.980000	0.982151	0.980000	0.990000																										0				12						c.(496-498)Gtc>Atc		family with sequence similarity 151, member A							118.0	98.0	105.0					1																	55080452		2203	4300	6503	SO:0001583	missense	338094	0	0					g.chr1:55080452C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.496G>A	chr1.hg19:g.55080452C>T	ENSP00000306888:p.Val166Ile	1					ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I	p.V166I	NM_176782.2	NP_788954.2	0	1	1	1.827221	Q8WW52	F151A_HUMAN		4	656	-			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	1	1	hg19	c.496G>A	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.257499	0.01457	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.81	3.6	0.589	0.17452	3.6	0.589	0.17452	.	0.233360	0.31246	N	0.007982	T	0.03477	0.0100	N	0.05078	-0.115	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.44982	-0.9292	10	0.06236	T	0.91	-17.4804	5.7578	0.18182	0.0:0.3913:0.0:0.6087	.	166	Q8WW52	F151A_HUMAN	I	166	ENSP00000306888:V166I;ENSP00000360353:V166I	ENSP00000294370:V166I	V	-	1	0	0	FAM151A	54853040	54853040	0.100000	0.21855	0.040000	0.18447	0.064000	0.16182	0.299000	0.19138	0.294000	0.22547	0.462000	0.41574	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_176782			62	61		181	175	1		1			0	0	42	0		1	0	0	0	0	0	0	62	181
TTC4	7268	broad.mit.edu	37	1	55194081	55194081	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371281.3	+	6	744	c.657T>C	c.(655-657)aaT>aaC	p.N219N	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	219										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408																																						ENST00000371281.3	1.000000	0.680000	9.800000e-01	8.100000e-01	0.910000	0.902328	0.910000	0.990000																										0				9						c.(655-657)aaT>aaC		tetratricopeptide repeat domain 4							118.0	121.0	120.0					1																	55194081		2203	4300	6503	SO:0001819	synonymous_variant	7268	0	0					g.chr1:55194081T>C		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.657T>C	chr1.hg19:g.55194081T>C		1					MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	p.N219N	NM_004623.4	NP_004614.3	0	1	1	1.827221	O95801	TTC4_HUMAN		6	744	+			Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	1	1	hg19	c.657T>C	CCDS596.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_004623			18	18		115	113	0		1	1		0	0	32	0		9.999867e-01	9.999809e-01	0	27	0	99	0	18	115
PARS2	25973	broad.mit.edu	37	1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	108					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617																																						ENST00000371279.3	1.000000	0.950000	1	9.700000e-01	0.980000	0.990611	0.980000	0.990000																										0				15						c.(322-324)gaG>gaT		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						77.0	76.0	76.0					1																	55224511		2203	4300	6503	SO:0001583	missense	25973	0	0					g.chr1:55224511C>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.324G>T	chr1.hg19:g.55224511C>A	ENSP00000360327:p.Glu108Asp	1						p.E108D	NM_152268.3	NP_689481.2	0	1	1	1.827221	Q7L3T8	SYPM_HUMAN		2	406	-			A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	1	1	hg19	c.324G>T	CCDS597.1	1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580642	0.65992	.	.	ENSG00000162396	ENST00000371279	T	0.80566	-1.39	4.99	4.99	0.66335	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.065947	0.64402	D	0.000010	D	0.91563	0.7335	H	0.96889	3.9	0.53688	D	0.999977	D	0.56035	0.974	D	0.63381	0.914	D	0.93020	0.6439	10	0.72032	D	0.01	-24.8229	9.9672	0.41732	0.0:0.7824:0.1404:0.0772	.	108	Q7L3T8	SYPM_HUMAN	D	108	ENSP00000360327:E108D	ENSP00000360327:E108D	E	-	3	2	2	PARS2	54997099	54997099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.534000	0.45676	2.310000	0.77875	0.563000	0.77884	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_152268			113	110		375	368	1		1	1		0	0	112	0		1	9.119864e-01	0	7	0	9	0	113	375
DHCR24	1718	broad.mit.edu	37	1	55319794	55319794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000537443.1_Silent_p.Y162Y|DHCR24_ENST00000535035.1_Silent_p.Y337Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	378					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3	1.000000	0.860000	1	9.300000e-01	0.970000	0.967030	0.970000	0.990000																										0				7						c.(1132-1134)taC>taT		24-dehydrocholesterol reductase							78.0	73.0	75.0					1																	55319794		2203	4300	6503	SO:0001819	synonymous_variant	1718	2	121412	34				g.chr1:55319794G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1134C>T	chr1.hg19:g.55319794G>A		1					DHCR24_ENST00000535035.1_Silent_p.Y337Y|DHCR24_ENST00000537443.1_Silent_p.Y162Y	p.Y378Y	NM_014762.3	NP_055577.1	0	1	1	1.827221	Q15392	DHC24_HUMAN		7	1232	-			B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	1	1	hg19	c.1134C>T	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093682	0.20471	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-2.13	0.07144	5.06	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6313	13.0848	0.59133	0.6011:0.0:0.3989:0.0	.	.	.	.	X	16	.	.	R	-	1	2	2	DHCR24	55092382	55092382	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-1.693000	0.01917	-0.305000	0.08831	0.561000	0.74099	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.889350	1	0.170000	NM_014762			38	38		133	129	1		1	1		0	0	38	0		1	1	0	117	0	128	0	38	133
PCSK9	255738	broad.mit.edu	37	1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	396	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5	0.990000	0.640000	9.500000e-01	7.400000e-01	0.850000	0.847897	0.850000	0.880000																										0				32						c.(1186-1188)Gca>Aca		proprotein convertase subtilisin/kexin type 9							66.0	61.0	63.0					1																	55523714		2203	4300	6503	SO:0001583	missense	255738	0	0					g.chr1:55523714G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1186G>A	chr1.hg19:g.55523714G>A	ENSP00000303208:p.Ala396Thr	1					PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	p.A396T	NM_174936.3	NP_777596.2	0	1	1	1.827221	Q8NBP7	PCSK9_HUMAN		8	1476	+			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	1	1	hg19	c.1186G>A	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640571	0.47153	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.39	2.46	0.29980	4.39	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.376195	0.24873	N	0.034901	D	0.89357	0.6692	M	0.83953	2.67	0.09310	N	1	P	0.45283	0.855	B	0.43331	0.416	T	0.82133	-0.0608	10	0.56958	D	0.05	-1.1614	11.0881	0.48099	0.0:0.1384:0.7179:0.1437	.	396	Q8NBP7	PCSK9_HUMAN	T	396;196	ENSP00000303208:A396T;ENSP00000441859:A196T	ENSP00000303208:A396T	A	+	1	0	0	PCSK9	55296302	55296302	0.511000	0.26179	0.003000	0.11579	0.118000	0.20060	3.058000	0.49939	0.380000	0.24823	0.563000	0.77884	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-11.730420	1	0.170000	NM_174936			41	40		451	438	0		1	1		0	0	83	0		1	4.843377e-01	0	8	0	11	0	41	451
USP24	23358	broad.mit.edu	37	1	55563334	55563334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1884	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			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						ATCTCATTAGGTGAATTACCA	0.338																																						ENST00000294383.6	0.990000	0.300000	9.200000e-01	5.000000e-01	0.730000	0.714974	0.730000	0.900000																										0				60						c.(5650-5652)caC>caT		ubiquitin specific peptidase 24							39.0	36.0	37.0					1																	55563334		1802	4065	5867	SO:0001819	synonymous_variant	23358	0	0					g.chr1:55563334G>A	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.5652C>T	chr1.hg19:g.55563334G>A		1					USP24_ENST00000407756.1_Silent_p.H1724H	p.H1884H	NM_015306.2	NP_056121.2	0	1	1	1.827221	Q9UPU5	UBP24_HUMAN		48	5651	-			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	0	1	hg19	c.5652C>T	CCDS44154.2	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-5.404435	1	0.170000				4	4		37	34	1		1	1		0	0	13	0		8.749712e-01	9.542096e-01	0	10	0	48	0	4	37
USP24	23358	broad.mit.edu	37	1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1661					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			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						GTGATGCATAGAAAGCAGTTC	0.378																																						ENST00000294383.6	1.000000	0.650000	9.800000e-01	7.900000e-01	0.910000	0.894781	0.910000	0.990000																										0				60						c.(4981-4983)tCt>tAt		ubiquitin specific peptidase 24							59.0	57.0	58.0					1																	55569592		1842	4092	5934	SO:0001583	missense	23358	0	0					g.chr1:55569592G>T	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.4982C>A	chr1.hg19:g.55569592G>T	ENSP00000294383:p.Ser1661Tyr	1					USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	p.S1661Y	NM_015306.2	NP_056121.2	0	1	1	1.827221	Q9UPU5	UBP24_HUMAN		42	4981	-			Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	1	1	hg19	c.4982C>A	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410228	0.62399	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67698	-0.28;-0.28	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.111807	0.64402	D	0.000006	T	0.57140	0.2033	L	0.34521	1.04	0.51767	D	0.999936	P	0.37398	0.593	B	0.30943	0.122	T	0.61481	-0.7054	10	0.66056	D	0.02	.	18.7818	0.91937	0.0:0.0:1.0:0.0	.	1501	B7WPF4	.	Y	1661;1501	ENSP00000294383:S1661Y;ENSP00000385700:S1501Y	ENSP00000294383:S1661Y	S	-	2	0	0	USP24	55342180	55342180	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.502000	0.81614	2.878000	0.98634	0.650000	0.86243	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.999220	1	0.170000				13	12		66	66	1		1	1		0	0	21	0		9.996620e-01	9.970873e-01	0	20	0	35	0	13	66
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	C	T	rs373311667		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1390					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A1390A(1)|p.A1307A(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						CACAGATTCCCGCATGCAGGG	0.493																																						ENST00000294383.6	1.000000	0.690000	9.900000e-01	8.300000e-01	0.920000	0.911971	0.920000	0.990000																										2	Substitution - coding silent(2)	p.A1390A(1)|p.A1307A(1)	lung(2)	60						c.(4168-4170)gcG>gcA		ubiquitin specific peptidase 24		T		0,3840		0,0,1920	65.0	63.0	64.0		4170	-9.6	0.5	1		64	1,8259		0,1,4129	no	coding-synonymous	USP24	NM_015306.2		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		1390/2621	55589226	1,12099	1920	4130	6050	SO:0001819	synonymous_variant	23358	10	120798	37				g.chr1:55589226C>T	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.4170G>A	chr1.hg19:g.55589226C>T		1					USP24_ENST00000407756.1_Silent_p.A1230A	p.A1390A	NM_015306.2	NP_056121.2	0	1	1	1.827221	Q9UPU5	UBP24_HUMAN		36	4169	-			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	1	1	hg19	c.4170G>A	CCDS44154.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999990	1	0.170000				13	13		45	45	1		1	1		0	0	14	0		9.997431e-01	9.982463e-01	0	12	0	31	0	13	45
USP24	23358	broad.mit.edu	37	1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	511					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			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						ACAAACAAATGATTAAGCTGA	0.363																																						ENST00000294383.6	0.980000	0.410000	9.100000e-01	5.700000e-01	0.750000	0.745318	0.750000	0.790000																										0				60						c.(1531-1533)Cat>Aat		ubiquitin specific peptidase 24							92.0	85.0	87.0					1																	55620367		1824	4079	5903	SO:0001583	missense	23358	0	0					g.chr1:55620367G>T	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.1531C>A	chr1.hg19:g.55620367G>T	ENSP00000294383:p.His511Asn	1					USP24_ENST00000407756.1_Missense_Mutation_p.H399N	p.H511N	NM_015306.2	NP_056121.2	0	1	1	1.827221	Q9UPU5	UBP24_HUMAN		13	1530	-			Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	1	1	hg19	c.1531C>A	CCDS44154.2	0	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589352	0.86851	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.68593	2.085	0.52099	D	0.999946	P	0.45126	0.851	P	0.58391	0.838	D	0.85825	0.1388	10	0.54805	T	0.06	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	399	B7WPF4	.	N	511;399	ENSP00000294383:H511N;ENSP00000385700:H399N	ENSP00000294383:H511N	H	-	1	0	0	USP24	55392955	55392955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.708000	0.92522	0.650000	0.86243	CAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-6.082040	1	0.170000				10	10		117	114	0		1	1		0	0	49	0		9.968986e-01	6.900930e-01	0	3	0	26	0	10	117
PPAP2B	8613	broad.mit.edu	37	1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	240					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582																																						ENST00000371250.3	1.000000	0.680000	9.800000e-01	8.000000e-01	0.900000	0.895302	0.900000	0.990000																										0				17						c.(718-720)tAc>tGc		phosphatidic acid phosphatase type 2B							88.0	81.0	84.0					1																	56977739		2203	4300	6503	SO:0001583	missense	8613	0	0					g.chr1:56977739T>C	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.719A>G	chr1.hg19:g.56977739T>C	ENSP00000360296:p.Tyr240Cys	1					PPAP2B_ENST00000459962.1_5'UTR	p.Y240C	NM_003713.4	NP_003704.3	0	1	1	1.827221	O14495	LPP3_HUMAN		5	1270	-			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	1	1	hg19	c.719A>G	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692869	0.88735	.	.	ENSG00000162407	ENST00000371250	T	0.74209	-0.82	6.04	6.04	0.98038	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.169906	0.52532	D	0.000069	D	0.86859	0.6034	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88431	0.3035	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	240	O14495	LPP3_HUMAN	C	240	ENSP00000360296:Y240C	ENSP00000360296:Y240C	Y	-	2	0	0	PPAP2B	56750327	56750327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_003713			29	26		252	248	0		1	0		0	0	53	0		1	9.976639e-01	0	1	0	83	0	29	252
PPAP2B	8613	broad.mit.edu	37	1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	153					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517																																						ENST00000371250.3	1.000000	0.820000	9.900000e-01	9.000000e-01	0.950000	0.950553	0.950000	0.990000																										0				17						c.(457-459)Cgc>Tgc		phosphatidic acid phosphatase type 2B							132.0	134.0	134.0					1																	56990067		2203	4300	6503	SO:0001583	missense	8613	2	121410	43				g.chr1:56990067G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.457C>T	chr1.hg19:g.56990067G>A	ENSP00000360296:p.Arg153Cys	1						p.R153C	NM_003713.4	NP_003704.3	0	1	1	1.827221	O14495	LPP3_HUMAN		3	1008	-			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	1	1	hg19	c.457C>T	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.221226	0.95139	.	.	ENSG00000162407	ENST00000371250	D	0.82711	-1.64	5.7	5.7	0.88788	5.7	5.7	0.88788	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	153	O14495	LPP3_HUMAN	C	153	ENSP00000360296:R153C	ENSP00000360296:R153C	R	-	1	0	0	PPAP2B	56762655	56762655	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.776000	0.99001	2.679000	0.91253	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-19.998480	1	0.170000	NM_003713			69	69		557	548	1		1	1		0	0	122	0		1	9.996959e-01	0	3	0	93	0	69	557
PRKAA2	5563	broad.mit.edu	37	1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T	rs574007984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGAAGTTTACCGAGCTATGAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.001					ENST00000371244.4	1.000000	0.930000	1	9.600000e-01	0.980000	0.987336	0.980000	0.990000																										0				23						c.(1261-1263)Cga>Tga		protein kinase, AMP-activated, alpha 2 catalytic subunit	Acetylsalicylic acid(DB00945)						88.0	91.0	90.0					1																	57170116		2203	4300	6503	SO:0001587	stop_gained	5563	2	121410	32				g.chr1:57170116C>T	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.1261C>T	chr1.hg19:g.57170116C>T	ENSP00000360290:p.Arg421*	1						p.R421*	NM_006252.3	NP_006243.2	0	1	1	1.827221	P54646	AAPK2_HUMAN		7	1327	+			Q9H1E8|Q9UD43	Nonsense_Mutation	SNP	ENST00000371244.4	0	1	hg19	c.1261C>T	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.757115	0.97817	.	.	ENSG00000162409	ENST00000371244	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5127	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000360290:R421X	R	+	1	2	2	PRKAA2	56942704	56942704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.170000	0.42443	2.941000	0.99782	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-2.457139	0	0.170000	NM_006252			100	98		410	402	1		1	1		0	0	102	0		1	4.152510e-01	0	2	0	5	0	100	410
C8A	731	broad.mit.edu	37	1	57340669	57340669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	73	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				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						GGGGAACCATCTGCAGTGGTG	0.478																																						ENST00000361249.3	0.990000	0.520000	9.500000e-01	6.700000e-01	0.830000	0.818280	0.830000	0.940000																										0				43						c.(217-219)atC>atT		complement component 8, alpha polypeptide							88.0	82.0	84.0					1																	57340669		2203	4300	6503	SO:0001819	synonymous_variant	731	0	0					g.chr1:57340669C>T	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.219C>T	chr1.hg19:g.57340669C>T		1						p.I73I	NM_000562.2	NP_000553.1	0	1	1	1.827221	P07357	CO8A_HUMAN		3	315	+			A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	1	1	hg19	c.219C>T	CCDS606.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.723520	1	0.170000	NM_000562			14	14		137	135	0		1	0		0	0	38	0		9.997818e-01	1.005446e-02	0	0	0	2	0	14	137
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A	rs559111946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	498	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.R498Q(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						AATGCCTGCCGATGTGGGCCT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17985	0.0		0.001	False		,,,				2504	0.0					ENST00000361249.3	1.000000	0.960000	1	9.700000e-01	0.990000	0.992817	0.990000	0.990000																										1	Substitution - Missense(1)	p.R498Q(1)	skin(1)	43						c.(1492-1494)cGa>cAa		complement component 8, alpha polypeptide							89.0	92.0	91.0					1																	57378188		2203	4300	6503	SO:0001583	missense	731	3	121412	42				g.chr1:57378188G>A	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.1493G>A	chr1.hg19:g.57378188G>A	ENSP00000354458:p.Arg498Gln	1						p.R498Q	NM_000562.2	NP_000553.1	0	1	1	1.827221	P07357	CO8A_HUMAN		10	1589	+			A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	1	1	hg19	c.1493G>A	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020350	0.93462	.	.	ENSG00000157131	ENST00000361249	D	0.86562	-2.14	5.73	5.73	0.89815	5.73	5.73	0.89815	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93131	0.6533	10	0.62326	D	0.03	-18.9819	18.0789	0.89436	0.0:0.0:1.0:0.0	.	498	P07357	CO8A_HUMAN	Q	498	ENSP00000354458:R498Q	ENSP00000354458:R498Q	R	+	2	0	0	C8A	57150776	57150776	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.424000	0.80242	2.713000	0.92767	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-3.955775	1	0.170000	NM_000562			145	145		516	511	1		1	0		0	0	100	0		1	0	0	1	0	0	0	145	516
C8A	731	broad.mit.edu	37	1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	562	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				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						GAGAAGAGAGTGTGACAATCC	0.577																																						ENST00000361249.3	0.980000	0.490000	9.000000e-01	6.100000e-01	0.750000	0.758239	0.750000	0.770000																										0				43						c.(1684-1686)Tgt>Ggt		complement component 8, alpha polypeptide							68.0	67.0	67.0					1																	57383318		2203	4300	6503	SO:0001583	missense	731	0	0					g.chr1:57383318T>G	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.1684T>G	chr1.hg19:g.57383318T>G	ENSP00000354458:p.Cys562Gly	1						p.C562G	NM_000562.2	NP_000553.1	0	1	1	1.827221	P07357	CO8A_HUMAN		11	1780	+			A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	1	1	hg19	c.1684T>G	CCDS606.1	0	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547329	0.65311	.	.	ENSG00000157131	ENST00000361249	T	0.25912	1.77	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	H	0.99600	4.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82692	-0.0331	10	0.87932	D	0	-16.2378	13.1014	0.59222	0.0:0.0:0.0:1.0	.	562	P07357	CO8A_HUMAN	G	562	ENSP00000354458:C562G	ENSP00000354458:C562G	C	+	1	0	0	C8A	57155906	57155906	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.767000	0.68850	2.012000	0.59069	0.460000	0.39030	TGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-19.999990	1	0.170000	NM_000562			20	19		252	248	0		1	0		0	0	74	0		9.999952e-01	0	0	0	0	1	0	20	252
OMA1	115209	broad.mit.edu	37	1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	141					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)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393																																						ENST00000371226.3	1.000000	0.780000	9.900000e-01	8.600000e-01	0.930000	0.931384	0.930000	0.990000																										0				18						c.(421-423)cGg>cAg		OMA1 zinc metallopeptidase							130.0	135.0	133.0					1																	59004545		2203	4300	6503	SO:0001583	missense	115209	1	121412	26				g.chr1:59004545C>T	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.422G>A	chr1.hg19:g.59004545C>T	ENSP00000360270:p.Arg141Gln	1					DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|OMA1_ENST00000467063.1_Intron	p.R141Q	NM_145243.3	NP_660286.1	0	1	1	1.827221	Q96E52	OMA1_HUMAN		2	535	-	all_cancers(7;6.54e-05)		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	1	1	hg19	c.422G>A	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310058	0.60414	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33654	2.47;2.48;1.85;1.83;1.83;1.4	5.35	-0.103	0.13609	5.35	-0.103	0.13609	.	0.705120	0.13458	N	0.386390	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.33739	0.185;0.422	B;B	0.25506	0.021;0.061	T	0.15407	-1.0438	9	.	.	.	-0.1038	7.6729	0.28470	0.0:0.3024:0.4728:0.2248	.	141;141	Q96E52;Q96E52-2	OMA1_HUMAN;.	Q	141	ENSP00000351417:R141Q;ENSP00000360270:R141Q;ENSP00000395053:R141Q;ENSP00000409589:R141Q;ENSP00000416495:R141Q;ENSP00000392978:R141Q	.	R	-	2	0	0	OMA1	58777133	58777133	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.072000	0.11486	0.164000	0.19529	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-2.505880	1	0.170000	NM_145243			65	64		584	580	1		1	1		0	0	136	0		1	9.943479e-01	0	11	0	61	0	65	584
FGGY	55277	broad.mit.edu	37	1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000303721.7	+	14	1598	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371218.4_Missense_Mutation_p.P499L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	475					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582																																						ENST00000303721.7	1.000000	0.630000	9.800000e-01	7.800000e-01	0.900000	0.884927	0.900000	0.990000																										0				22						c.(1423-1425)cCt>cTt		FGGY carbohydrate kinase domain containing							195.0	126.0	149.0					1																	60139717		2203	4300	6503	SO:0001583	missense	55277	1	121408	28				g.chr1:60139717C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1424C>T	chr1.hg19:g.60139717C>T	ENSP00000305922:p.Pro475Leu	1					FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000371218.4_Missense_Mutation_p.P499L	p.P475L	NM_018291.3	NP_060761.3	0	1	1	1.827221	Q96C11	FGGY_HUMAN		14	1598	+	all_cancers(7;7.36e-05)		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	1	1	hg19	c.1424C>T	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707696	0.89018	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.55	5.55	0.83447	5.55	5.55	0.83447	Carbohydrate kinase, FGGY, C-terminal (1);	0.053130	0.85682	D	0.000000	D	0.96626	0.8899	H	0.96333	3.805	0.80722	D	1	D;P;D;P	0.89917	1.0;0.85;1.0;0.91	D;P;D;P	0.97110	1.0;0.599;1.0;0.737	D	0.97244	0.9893	9	.	.	.	-9.9795	19.6873	0.95984	0.0:1.0:0.0:0.0	.	499;387;475;475	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	499;475;387;176	ENSP00000360262:P499L;ENSP00000305922:P475L;ENSP00000360256:P387L;ENSP00000360254:P176L	.	P	+	2	0	0	FGGY	59912305	59912305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.890000	0.99128	0.585000	0.79938	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.995830	1	0.170000	NM_001113411			13	12		76	74	0		1	0		0	0	27	0		9.995872e-01	8.598400e-01	0	1	0	22	0	13	76
HOOK1	51361	broad.mit.edu	37	1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	563					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383																																						ENST00000371208.3	1.000000	0.690000	9.800000e-01	8.100000e-01	0.910000	0.901520	0.910000	0.990000																										0				29						c.(1687-1689)Gaa>Taa		hook microtubule-tethering protein 1							72.0	74.0	73.0					1																	60330860		2203	4300	6503	SO:0001587	stop_gained	51361	0	0					g.chr1:60330860G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1687G>T	chr1.hg19:g.60330860G>T	ENSP00000360252:p.Glu563*	1					HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	p.E563*	NM_015888.4	NP_056972.1	0	1	1	1.827221	Q9UJC3	HOOK1_HUMAN		18	1944	+	all_cancers(7;0.000129)		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	0	1	hg19	c.1687G>T	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.638907	0.99226	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.047134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	563;521	.	ENSP00000360252:E563X	E	+	1	0	0	HOOK1	60103448	60103448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.881000	0.98747	0.650000	0.86243	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_015888			25	25		197	195	1		1	0		0	0	79	0		9.999999e-01	8.493064e-01	0	0	0	29	0	25	197
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AACCAAAGTTCCTTAGTGCTG	0.438																																						ENST00000371204.3	1.000000	0.690000	9.700000e-01	7.800000e-01	0.880000	0.880371	0.880000	0.930000																										0				26						c.(436-438)agG>agT		cytochrome P450, family 2, subfamily J, polypeptide 2	Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)						204.0	168.0	180.0					1																	60377919		2203	4300	6503	SO:0001583	missense	1573	0	0					g.chr1:60377919C>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.438G>T	chr1.hg19:g.60377919C>A	ENSP00000360247:p.Arg146Ser	1					CYP2J2_ENST00000492633.1_5'UTR	p.R146S	NM_000775.2	NP_000766.2	0	1	1	1.827221	P51589	CP2J2_HUMAN		3	481	-	all_cancers(7;0.000396)		B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	1	1	hg19	c.438G>T	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404074	0.62288	.	.	ENSG00000134716	ENST00000371204	T	0.76578	-1.03	5.85	4.94	0.65067	5.85	4.94	0.65067	.	0.045766	0.85682	D	0.000000	D	0.89567	0.6752	H	0.94658	3.565	0.40386	D	0.979495	D	0.60575	0.988	D	0.64595	0.927	D	0.91533	0.5244	10	0.87932	D	0	.	10.1236	0.42637	0.0:0.8462:0.0:0.1538	.	146	P51589	CP2J2_HUMAN	S	146	ENSP00000360247:R146S	ENSP00000360247:R146S	R	-	3	2	2	CYP2J2	60150507	60150507	0.302000	0.24454	0.994000	0.49952	0.775000	0.43874	-0.146000	0.10250	1.491000	0.48482	-0.136000	0.14681	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	1	0	0		2	2	2	0		0	0	110		110	109	1	2.060000	-13.816770	1	0.170000	NM_000775			49	48		506	500	0		1	1		0	0	110	0		1	1.912134e-01	0	2	0	6	0	49	506
CYP2J2	1573	broad.mit.edu	37	1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	144					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TTCCTTAGTGCTGTCAGAGTG	0.438																																						ENST00000371204.3	1.000000	0.700000	9.700000e-01	8.000000e-01	0.890000	0.887723	0.890000	0.940000																										0				26						c.(430-432)Gca>Aca		cytochrome P450, family 2, subfamily J, polypeptide 2	Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)						202.0	169.0	180.0					1																	60377927		2203	4300	6503	SO:0001583	missense	1573	0	0					g.chr1:60377927C>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.430G>A	chr1.hg19:g.60377927C>T	ENSP00000360247:p.Ala144Thr	1					CYP2J2_ENST00000492633.1_5'UTR	p.A144T	NM_000775.2	NP_000766.2	0	1	1	1.827221	P51589	CP2J2_HUMAN		3	473	-	all_cancers(7;0.000396)		B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	1	1	hg19	c.430G>A	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860623	0.02610	.	.	ENSG00000134716	ENST00000371204	T	0.67171	-0.25	5.85	3.59	0.41128	5.85	3.59	0.41128	.	0.155125	0.56097	N	0.000022	T	0.25938	0.0632	N	0.00560	-1.38	0.19775	N	0.999956	B	0.02656	0.0	B	0.08055	0.003	T	0.36237	-0.9756	10	0.02654	T	1	.	7.9599	0.30066	0.0:0.1789:0.0:0.8211	.	144	P51589	CP2J2_HUMAN	T	144	ENSP00000360247:A144T	ENSP00000360247:A144T	A	-	1	0	0	CYP2J2	60150515	60150515	0.862000	0.29867	0.204000	0.23530	0.488000	0.33401	1.207000	0.32333	0.514000	0.28300	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	0	0		2	2	2	0		0	0	125		125	124	1	2.060000	-14.879220	1	0.170000	NM_000775			54	53		553	546	0		1	1		0	0	125	0		1	2.617557e-01	0	3	0	8	0	54	553
CYP2J2	1573	broad.mit.edu	37	1	60392254	60392254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	ENST00000371204.3	-	1	208	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	55					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CAAGGAAGAAGTTGCCAAGGA	0.592																																						ENST00000371204.3	0.600000	0.250000	5.000000e-01	3.200000e-01	0.400000	0.418063	0.400000	0.400000																										0				26						c.(163-165)aaC>aaT		cytochrome P450, family 2, subfamily J, polypeptide 2	Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)						64.0	70.0	68.0					1																	60392254		2203	4300	6503	SO:0001819	synonymous_variant	1573	0	0					g.chr1:60392254G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.165C>T	chr1.hg19:g.60392254G>A		1						p.N55N	NM_000775.2	NP_000766.2	0	1	1	1.827221	P51589	CP2J2_HUMAN		1	208	-	all_cancers(7;0.000396)		B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	1	1	hg19	c.165C>T	CCDS613.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-17.986670	1	0.170000	NM_000775			19	19		484	469	0		1	0		0	0	99	0		9.999880e-01	6.979614e-02	0	0	0	11	0	19	484
INADL	10207	broad.mit.edu	37	1	62366960	62366960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1070	PDZ 6. {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)				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						ATAGTGTTGAGATTTTTAGAG	0.338																																						ENST00000371158.2	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.915188	0.920000	0.990000																										0				103						c.(3208-3210)gaG>gaA		InaD-like (Drosophila)							85.0	90.0	88.0					1																	62366960		2203	4300	6503	SO:0001819	synonymous_variant	10207	0	0					g.chr1:62366960G>A	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.3210G>A	chr1.hg19:g.62366960G>A		1					INADL_ENST00000316485.6_Silent_p.E1070E	p.E1070E	NM_176877.2	NP_795352	0	1	1	1.827221	Q8NI35	INADL_HUMAN		24	3324	+			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	1	1	hg19	c.3210G>A	CCDS617.2	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_170605			32	32		255	250	1		1	1		0	0	43	0		1	9.929117e-01	0	23	0	41	0	32	255
KANK4	163782	broad.mit.edu	37	1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	493						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577																																						ENST00000371153.4	1.000000	0.950000	1	9.700000e-01	0.990000	0.991151	0.990000	0.990000																										0				81						c.(1477-1479)aGc>aTc		KN motif and ankyrin repeat domains 4							96.0	97.0	97.0					1																	62739298		2203	4300	6503	SO:0001583	missense	163782	0	0					g.chr1:62739298C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1478G>T	chr1.hg19:g.62739298C>A	ENSP00000360195:p.Ser493Ile	1					KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	p.S493I	NM_181712.4	NP_859063.3	0	1	1	1.827221	Q5T7N3	KANK4_HUMAN		3	1856	-			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	1	1	hg19	c.1478G>T	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305397	0.60305	.	.	ENSG00000132854	ENST00000371153	T	0.50277	0.75	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.45126	D	0.000394	T	0.64193	0.2576	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65985	-0.6035	10	0.62326	D	0.03	-21.4958	13.195	0.59732	0.0:1.0:0.0:0.0	.	493	Q5T7N3	KANK4_HUMAN	I	493	ENSP00000360195:S493I	ENSP00000360195:S493I	S	-	2	0	0	KANK4	62511886	62511886	0.999000	0.42202	0.996000	0.52242	0.365000	0.29674	2.290000	0.43531	2.563000	0.86464	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	1	0	1		18	2	2	0		0	1	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_181712			122	121		428	418	1		1	0		0	0	101	0		1	4.996462e-02	0	0	0	2	0	122	428
DOCK7	85440	broad.mit.edu	37	1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000340370.5	-	45	5742	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1940	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)			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						TACATGAATCGACGAAGATTG	0.403																																						ENST00000340370.5	1.000000	0.770000	9.900000e-01	8.500000e-01	0.930000	0.926246	0.930000	0.990000																										0				92						c.(5725-5727)Cga>Tga		dedicator of cytokinesis 7							167.0	161.0	163.0					1																	62941521		2203	4299	6502	SO:0001587	stop_gained	85440	0	0					g.chr1:62941521G>A		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.5725C>T	chr1.hg19:g.62941521G>A	ENSP00000340742:p.Arg1909*	1					DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*	p.R1909*	NM_033407.2	NP_212132.2	0	1	1	1.827221	Q96N67	DOCK7_HUMAN		45	5742	-			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	0	1	hg19	c.5725C>T	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.097485|13.097485	0.99719|0.99719	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79598	.|0.4473	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77768	.|-0.2464	.|3	0.02654|.	T|.	1|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1940;1929;1909;670|1102	.|.	ENSP00000251157:R1929X|.	R|S	-|-	1|2	2|0	2|0	DOCK7|DOCK7	62714109|62714109	62714109|62714109	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.922000|0.922000	0.55478|0.55478	8.004000|8.004000	0.88535|0.88535	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CGA|TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1		16	3	2	1		1	1	122		122	121	1	2.060000	-17.225590	1	0.170000	NM_033407			55	54		488	480	1		1	0		1	0	122	0		9.999997e-01	9.032137e-01	0	1	0	51	0	55	488
DOCK7	85440	broad.mit.edu	37	1	62953075	62953075	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1834	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)			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						CTACCTCCCAGCCAGTACTCT	0.348																																						ENST00000340370.5	0.930000	0.420000	8.200000e-01	5.300000e-01	0.660000	0.679628	0.660000	0.660000																										0				92						c.(5407-5409)ggC>ggA		dedicator of cytokinesis 7							67.0	73.0	71.0					1																	62953075		2203	4300	6503	SO:0001819	synonymous_variant	85440	0	0					g.chr1:62953075G>T		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.5409C>A	chr1.hg19:g.62953075G>T		1					DOCK7_ENST00000251157.5_Intron	p.G1803G	NM_033407.2	NP_212132.2	0	1	1	1.827221	Q96N67	DOCK7_HUMAN		42	5426	-			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	1	1	hg19	c.5409C>A	CCDS30734.1	0	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695324	0.15106	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	T	0.76219	0.3957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	.	19.5557	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	M	997	.	.	L	-	1	2	2	DOCK7	62725663	62725663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.628000	0.89032	0.586000	0.80456	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-5.888512	1	0.170000	NM_033407			19	19		281	275	0		1	0		0	0	85	0		9.999902e-01	1.884318e-01	0	0	0	12	0	19	281
ANGPTL3	27329	broad.mit.edu	37	1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	379	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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373																																						ENST00000371129.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.989488	0.980000	0.990000																										0				13						c.(1135-1137)Ttg>Gtg		angiopoietin-like 3							108.0	111.0	110.0					1																	63069843		2203	4300	6503	SO:0001583	missense	27329	0	0					g.chr1:63069843T>G	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.1135T>G	chr1.hg19:g.63069843T>G	ENSP00000360170:p.Leu379Val	1					DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR	p.L379V	NM_014495.2	NP_055310.1	0	1	1	1.827221	Q9Y5C1	ANGL3_HUMAN		6	1215	+			A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	1	1	hg19	c.1135T>G	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923441	0.52653	.	.	ENSG00000132855	ENST00000371129	T	0.76578	-1.03	5.6	2.01	0.26516	5.6	2.01	0.26516	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.098369	0.64402	D	0.000002	T	0.53190	0.1781	L	0.41906	1.305	0.33659	D	0.60952	P	0.51791	0.948	P	0.50570	0.644	T	0.50233	-0.8852	10	0.15952	T	0.53	.	3.4284	0.07420	0.2153:0.4539:0.0:0.3307	.	379	Q9Y5C1	ANGL3_HUMAN	V	379	ENSP00000360170:L379V	ENSP00000360170:L379V	L	+	1	2	2	ANGPTL3	62842431	62842431	0.982000	0.34865	0.964000	0.40570	0.724000	0.41520	2.327000	0.43858	0.420000	0.25954	0.533000	0.62120	TTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_014495			110	109		411	402	1		1			0	0	99	0		1	0	0	0	0	0	0	110	411
DOCK7	85440	broad.mit.edu	37	1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000340370.5	-	6	567	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	184					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)			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						GGGGTATCATCTATTGACATT	0.318																																						ENST00000340370.5	1.000000	0.910000	1	9.500000e-01	0.980000	0.981170	0.980000	0.990000																										0				92						c.(550-552)Gat>Aat		dedicator of cytokinesis 7							58.0	59.0	59.0					1																	63113959		2195	4298	6493	SO:0001583	missense	85440	0	0					g.chr1:63113959C>T		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.550G>A	chr1.hg19:g.63113959C>T	ENSP00000340742:p.Asp184Asn	1					DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N|DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N	p.D184N	NM_033407.2	NP_212132.2	0	1	1	1.827221	Q96N67	DOCK7_HUMAN		6	567	-			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	1	1	hg19	c.550G>A	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832618	0.91036	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20738	2.48;2.48;2.05	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	B;P;D;D;P	0.69078	0.129;0.887;0.968;0.997;0.511	B;P;P;D;B	0.66497	0.046;0.811;0.864;0.944;0.209	T	0.09840	-1.0656	10	0.42905	T	0.14	.	17.4531	0.87597	0.0:1.0:0.0:0.0	.	184;184;184;184;184	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	184	ENSP00000251157:D184N;ENSP00000340742:D184N;ENSP00000384446:D184N	ENSP00000251157:D184N	D	-	1	0	0	DOCK7	62886547	62886547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.333000	0.79357	0.462000	0.41574	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.931136	1	0.170000	NM_033407			65	65		232	230	1		1	1		0	0	71	0		1	9.894925e-01	0	8	0	20	0	65	232
FOXD3	27022	broad.mit.edu	37	1	63789347	63789347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.993756	0.990000	1.000000																										0				5						c.(616-618)ccG>ccA		forkhead box D3							86.0	101.0	96.0					1																	63789347		2203	4300	6503	SO:0001819	synonymous_variant	27022	4	121412	42				g.chr1:63789347G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.618G>A	chr1.hg19:g.63789347G>A		1					RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA	p.P206P	NM_012183.2	NP_036315.1	0	1	1	1.827221	Q9UJU5	FOXD3_HUMAN		1	618	+			Q9BYM2|Q9UDD1	Silent	SNP	ENST00000371116.2	1	1	hg19	c.618G>A	CCDS624.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	1	0	1		2	2	2	0		0	0	176		176	166	1	2.060000	-3.044632	1	0.170000				169	164		648	624	0		1	1		0	0	176	0		1	3.631818e-01	0	2	0	4	0	169	648
ITGB3BP	23421	broad.mit.edu	37	1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000271002.10	-	3	259	c.178T>C	c.(178-180)Tca>Cca	p.S60P	ITGB3BP_ENST00000371092.3_Missense_Mutation_p.S99P|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	60					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328																																						ENST00000271002.10	1.000000	0.880000	1	9.400000e-01	0.970000	0.972230	0.970000	0.990000																										0				9						c.(178-180)Tca>Cca		integrin beta 3 binding protein (beta3-endonexin)							115.0	109.0	111.0					1																	63955760		2203	4300	6503	SO:0001583	missense	23421	0	0					g.chr1:63955760A>G	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.178T>C	chr1.hg19:g.63955760A>G	ENSP00000271002:p.Ser60Pro	1					ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P|ITGB3BP_ENST00000371092.3_Missense_Mutation_p.S99P	p.S60P	NM_014288.4	NP_055103.3	0	1	1	1.827221	Q13352	CENPR_HUMAN		3	259	-			B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	1	1	hg19	c.178T>C	CCDS30736.1	1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874450	0.51695	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57595	0.39;0.39;0.39	5.45	0.367	0.16140	5.45	0.367	0.16140	.	0.312682	0.23014	N	0.052931	T	0.23210	0.0561	L	0.59436	1.845	0.32293	N	0.56607	P;P;P	0.44380	0.834;0.552;0.757	B;B;B	0.38562	0.276;0.255;0.261	T	0.05852	-1.0860	10	0.66056	D	0.02	-0.2302	2.7656	0.05319	0.5081:0.2769:0.0779:0.1371	.	60;99;60	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	P	60;99;60	ENSP00000271002:S60P;ENSP00000360133:S99P;ENSP00000283568:S60P	ENSP00000271002:S60P	S	-	1	0	0	ITGB3BP	63728348	63728348	0.993000	0.37304	0.923000	0.36655	0.696000	0.40369	1.494000	0.35616	0.145000	0.18977	0.533000	0.62120	TCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_014288			44	43		148	146	1		1	1		0	0	53	0		1	9.997547e-01	0	22	0	24	0	44	148
EFCAB7	84455	broad.mit.edu	37	1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	rs144850202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	475							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353																																						ENST00000371088.4	1.000000	0.650000	9.700000e-01	7.800000e-01	0.890000	0.881619	0.890000	0.990000																										0				19						c.(1423-1425)Cga>Tga		EF-hand calcium binding domain 7							79.0	83.0	81.0					1																	64027454		2203	4300	6503	SO:0001587	stop_gained	84455	74	121410	50				g.chr1:64027454C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1423C>T	chr1.hg19:g.64027454C>T	ENSP00000360129:p.Arg475*	1					EFCAB7_ENST00000461039.1_3'UTR	p.R475*	NM_032437.2	NP_115813.2	0	1	1	1.827221	A8K855	EFCB7_HUMAN		11	1669	+			Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	0	1	hg19	c.1423C>T	CCDS30737.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.480789	0.97603	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	2.79	0.32731	5.76	2.79	0.32731	.	0.256083	0.37669	N	0.002000	.	.	.	.	.	.	0.37285	D	0.907992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6178	11.8871	0.52608	0.2475:0.6335:0.119:0.0	.	.	.	.	X	475	.	ENSP00000360129:R475X	R	+	1	2	2	EFCAB7	63800042	63800042	1.000000	0.71417	0.448000	0.26945	0.491000	0.33493	2.120000	0.41968	0.319000	0.23209	-0.347000	0.07816	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-2.966608	1	0.170000	NM_032437			25	25		222	219	1		1	0		0	0	38	0		9.999999e-01	6.705689e-01	0	0	0	22	0	25	222
PGM1	5236	broad.mit.edu	37	1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T	rs397515423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371084.3	+	10	1720	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000371083.4_Nonsense_Mutation_p.R521*|PGM1_ENST00000483707.1_3'UTR|RN7SL130P_ENST00000489463.2_RNA	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	503					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532																																						ENST00000371084.3	1.000000	0.920000	1	9.500000e-01	0.980000	0.982434	0.980000	0.990000																										0				20						c.(1507-1509)Cga>Tga		phosphoglucomutase 1							78.0	76.0	77.0					1																	64120045		2203	4300	6503	SO:0001587	stop_gained	5236	0	0					g.chr1:64120045C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1507C>T	chr1.hg19:g.64120045C>T	ENSP00000360125:p.Arg503*	1					PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|RN7SL130P_ENST00000489463.2_RNA|PGM1_ENST00000371083.4_Nonsense_Mutation_p.R521*|PGM1_ENST00000483707.1_3'UTR	p.R503*	NM_002633.2	NP_002624.2	0	1	1	1.827221	P36871	PGM1_HUMAN		10	1720	+			B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Nonsense_Mutation	SNP	ENST00000371084.3	0	1	hg19	c.1507C>T	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.146605	0.97324	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.45	4.51	0.55191	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3083	13.3093	0.60370	0.2968:0.7032:0.0:0.0	.	.	.	.	X	479;503;306;521	.	ENSP00000360124:R521X	R	+	1	2	2	PGM1	63892633	63892633	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.134000	0.31442	1.379000	0.46325	0.563000	0.77884	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-4.005751	1	0.170000	NM_002633			66	66		215	212	1		1	1		0	0	77	0		1	1	0	9	0	174	0	66	215
ROR1	4919	broad.mit.edu	37	1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S49A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	49	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)			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						ATGGAACATCTCAAGTGAACT	0.443																																						ENST00000371079.1	1.000000	0.960000	1	9.800000e-01	0.990000	0.994414	0.990000	1.000000																										0				51						c.(145-147)Tca>Gca		receptor tyrosine kinase-like orphan receptor 1							170.0	169.0	169.0					1																	64475030		2203	4300	6503	SO:0001583	missense	4919	0	0					g.chr1:64475030T>G	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.145T>G	chr1.hg19:g.64475030T>G	ENSP00000360120:p.Ser49Ala	1					ROR1_ENST00000371080.1_Missense_Mutation_p.S49A|ROR1_ENST00000482426.1_3'UTR	p.S49A	NM_005012.3	NP_005003.2	0	1	1	1.827221	Q01973	ROR1_HUMAN		2	520	+			Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	1	1	hg19	c.145T>G	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284512	0.10513	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.74947	0.0;-0.89	5.86	5.86	0.93980	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.30401	U	0.009703	T	0.50137	0.1598	N	0.04090	-0.28	0.80722	D	1	P;P	0.44690	0.841;0.841	P;P	0.51170	0.661;0.661	T	0.58515	-0.7623	10	0.13470	T	0.59	.	15.9094	0.79461	0.0:0.0:0.0:1.0	.	49;49	Q01973;Q66K77	ROR1_HUMAN;.	A	49;49;52	ENSP00000360121:S49A;ENSP00000360120:S49A	ENSP00000360120:S49A	S	+	1	0	0	ROR1	64247618	64247618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.106000	0.64597	2.241000	0.73720	0.533000	0.62120	TCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	1	0	1		2	2	2	0		0	0	166		166	166	1	2.060000	-20.000000	1	0.170000	NM_005012			185	183		715	705	1		1	0		0	0	166	0		1	4.399444e-01	0	1	0	6	0	185	715
UBE2U	148581	broad.mit.edu	37	1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	97					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308																																						ENST00000371076.3	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.946276	0.950000	0.990000																										0				6						c.(289-291)gaG>gaT		ubiquitin-conjugating enzyme E2U (putative)							80.0	76.0	78.0					1																	64676474		2203	4300	6503	SO:0001583	missense	148581	0	0					g.chr1:64676474G>T	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.291G>T	chr1.hg19:g.64676474G>T	ENSP00000360116:p.Glu97Asp	1						p.E97D	NM_152489.1	NP_689702.1	0	1	1	1.827221	Q5VVX9	UBE2U_HUMAN		4	535	+			Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	1	1	hg19	c.291G>T	CCDS627.1	1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.473912	0.01044	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.47528	0.84;0.84	5.5	-11.0	0.00169	5.5	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	4.517410	0.00166	N	0.000008	T	0.06280	0.0162	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.18710	T	0.47	.	0.9198	0.01312	0.3285:0.1971:0.3413:0.1331	.	97	Q5VVX9	UBE2U_HUMAN	D	97	ENSP00000360117:E97D;ENSP00000360116:E97D	ENSP00000360116:E97D	E	+	3	2	2	UBE2U	64449062	64449062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.616000	0.00881	-2.767000	0.00367	-1.083000	0.02208	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.308	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_152489			29	27		145	144	1		1			0	0	40	0		1	0	0	0	0	0	0	29	145
CACHD1	57685	broad.mit.edu	37	1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000371073.2	+	14	1998	c.1998T>G	c.(1996-1998)taT>taG	p.Y666*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	666					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				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						CCTCCCCCTATGAGCACCTCA	0.537																																						ENST00000371073.2	1.000000	0.890000	1	9.400000e-01	0.970000	0.974609	0.970000	0.990000																										0				55						c.(1996-1998)taT>taG		cache domain containing 1							174.0	171.0	172.0					1																	65129424		2203	4300	6503	SO:0001587	stop_gained	57685	0	0					g.chr1:65129424T>G	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.1998T>G	chr1.hg19:g.65129424T>G	ENSP00000360113:p.Tyr666*	1					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*	p.Y666*			0	1	1	1.827221	Q5VU97	CAHD1_HUMAN		14	1998	+			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	ENST00000371073.2	0	1	hg19	c.1998T>G		1	.	.	.	.	.	.	.	.	.	.	T	39	7.571816	0.98365	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.92	-5.19	0.02832	5.92	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2379	15.5787	0.76414	0.0:0.2889:0.0:0.7111	.	.	.	.	X	666;615	.	ENSP00000290039:Y615X	Y	+	3	2	2	CACHD1	64902012	64902012	0.175000	0.23083	0.855000	0.33649	0.990000	0.78478	-0.484000	0.06528	-0.793000	0.04475	-0.334000	0.08254	TAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	202		202	200	1	2.060000	-20.000000	1	0.170000	NM_020925			126	122		963	942	1		1	0		0	0	202	0		1	1.364477e-02	0	0	0	2	0	126	963
CACHD1	57685	broad.mit.edu	37	1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000371073.2	+	17	2399	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	800	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				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						ACACAGCTGTCTTCTGGGCAC	0.413																																						ENST00000371073.2	1.000000	0.820000	9.900000e-01	8.900000e-01	0.950000	0.945595	0.950000	0.990000																										0				55						c.(2398-2400)tCt>tAt		cache domain containing 1							213.0	187.0	196.0					1																	65137258		2203	4300	6503	SO:0001583	missense	57685	0	0					g.chr1:65137258C>A	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.2399C>A	chr1.hg19:g.65137258C>A	ENSP00000360113:p.Ser800Tyr	1					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y	p.S800Y			0	1	1	1.827221	Q5VU97	CAHD1_HUMAN		17	2399	+			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	1	1	hg19	c.2399C>A		1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749343	0.49257	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26957	1.7;1.71	6.08	5.17	0.71159	6.08	5.17	0.71159	Cache (1);	0.045645	0.85682	D	0.000000	T	0.19805	0.0476	L	0.53249	1.67	0.58432	D	0.999993	B	0.23990	0.095	B	0.34722	0.188	T	0.06552	-1.0820	10	0.72032	D	0.01	-20.5468	15.3777	0.74625	0.0:0.9336:0.0:0.0664	.	800	Q5VU97	CAHD1_HUMAN	Y	800;749	ENSP00000360113:S800Y;ENSP00000290039:S749Y	ENSP00000290039:S749Y	S	+	2	0	0	CACHD1	64909846	64909846	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.146000	0.77373	1.595000	0.50050	-0.136000	0.14681	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-19.999640	1	0.170000	NM_020925			75	75		643	627	1		1	0		0	0	134	0		1	1.257263e-01	0	0	0	6	0	75	643
RAVER2	55225	broad.mit.edu	37	1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000294428.3	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I|RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308																																						ENST00000294428.3	0.980000	0.590000	9.300000e-01	7.000000e-01	0.810000	0.815492	0.810000	0.830000																										0				24						c.(1126-1128)aGc>aTc		ribonucleoprotein, PTB-binding 2							135.0	124.0	127.0					1																	65268680		1844	4101	5945	SO:0001583	missense	55225	0	0					g.chr1:65268680G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1127G>T	chr1.hg19:g.65268680G>T	ENSP00000294428:p.Ser376Ile	1					RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I	p.S376I			0	1	1	1.827221	Q9HCJ3	RAVR2_HUMAN		6	1205	+			Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	1	1	hg19	c.1127G>T		0	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674745	0.29783	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33865	1.39;1.4	5.67	2.69	0.31865	5.67	2.69	0.31865	.	0.420646	0.31697	N	0.007205	T	0.21921	0.0528	L	0.50333	1.59	0.25190	N	0.990134	P;P	0.50443	0.893;0.935	P;P	0.51945	0.487;0.685	T	0.06643	-1.0815	10	0.44086	T	0.13	-20.3287	6.1473	0.20293	0.1664:0.286:0.5476:0.0	.	376;376	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	376;376;82	ENSP00000360112:S376I;ENSP00000294428:S376I	ENSP00000294428:S376I	S	+	2	0	0	RAVER2	65041268	65041268	1.000000	0.71417	0.878000	0.34440	0.009000	0.06853	2.378000	0.44309	0.286000	0.22352	-0.179000	0.13096	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.308	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-10.089980	1	0.170000	NM_018211			36	34		421	415	0		1	1		0	0	67	0		1	5.806500e-01	0	6	0	17	0	36	421
JAK1	3716	broad.mit.edu	37	1	65332855	65332855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			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)	TCTGTCTGATGGACTTATTCA	0.363			Mis		ALL																																	ENST00000342505.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.979954	0.980000	0.990000				Dom	yes			Dom	yes		1	1p32.3-p31.3	1p32.3-p31.3	3716	Mis	Janus kinase 1				L	L			ALL		0				120						c.(682-684)tcC>tcT		Janus kinase 1	Ruxolitinib(DB08877)|Tofacitinib(DB08895)						88.0	81.0	83.0					1																	65332855		1874	4112	5986	SO:0001819	synonymous_variant	3716	0	0					g.chr1:65332855G>A	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.684C>T	chr1.hg19:g.65332855G>A		1						p.S228S	NM_002227.2	NP_002218.2	0	1	1	1.827221	P23458	JAK1_HUMAN		7	932	-			Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	1	1	hg19	c.684C>T	CCDS41346.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-3.132816	1	0.170000	NM_002227			69	68		296	292	1		1	1		0	0	63	0		1	1	0	62	0	281	0	69	296
DNAJC6	9829	broad.mit.edu	37	1	65855014	65855014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	366	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403																																						ENST00000395325.3	1.000000	0.790000	9.900000e-01	8.800000e-01	0.940000	0.939602	0.940000	0.990000																										0				39						c.(1096-1098)caG>caA		DnaJ (Hsp40) homolog, subfamily C, member 6							122.0	113.0	116.0					1																	65855014		2203	4300	6503	SO:0001819	synonymous_variant	9829	0	0					g.chr1:65855014G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1098G>A	chr1.hg19:g.65855014G>A		1					DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	p.Q366Q	NM_014787.3	NP_055602.1	0	1	1	1.827221	O75061	AUXI_HUMAN		10	1255	+			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	1	1	hg19	c.1098G>A	CCDS30739.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1	1	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-18.062260	1	0.170000				48	47		373	361	1		1	0		0	0	87	0		1	1.067203e-01	0	1	0	4	0	48	373
DNAJC6	9829	broad.mit.edu	37	1	65855062	65855062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	382					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428																																						ENST00000395325.3	1.000000	0.900000	1	9.400000e-01	0.970000	0.977096	0.970000	0.990000																										0				39						c.(1144-1146)tgC>tgT		DnaJ (Hsp40) homolog, subfamily C, member 6							142.0	125.0	131.0					1																	65855062		2203	4300	6503	SO:0001819	synonymous_variant	9829	1	121412	32				g.chr1:65855062C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1146C>T	chr1.hg19:g.65855062C>T		1					DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	p.C382C	NM_014787.3	NP_055602.1	0	1	1	1.827221	O75061	AUXI_HUMAN		10	1303	+			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	1	1	hg19	c.1146C>T	CCDS30739.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1	1	0	0		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000				63	62		282	280	0		1	0		0	0	91	0		1	0	0	0	0	1	0	63	282
LEPR	3953	broad.mit.edu	37	1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron	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)			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)		GCCTGTGCCAACAGCCAAACT	0.428																																						ENST00000349533.6	0.550000	0.180000	4.500000e-01	2.500000e-01	0.340000	0.356038	0.340000	0.330000																										0				36						c.(604-606)Aca>Cca		leptin receptor							148.0	134.0	139.0					1																	66058449		2203	4300	6503	SO:0001583	missense	3953	0	0					g.chr1:66058449A>C	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.604A>C	chr1.hg19:g.66058449A>C	ENSP00000330393:p.Thr202Pro	1					LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P	p.T202P	NM_002303.5	NP_002294.2	0	1	1	1.827221	O15243	OBRG_HUMAN		6	789	+			Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	1	1	hg19	c.604A>C	CCDS631.1	0	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343691	0.24339	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.55;0.53;0.55	5.96	-7.16	0.01516	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43633	0.586;0.709;0.813	B;B;B	0.35073	0.192;0.128;0.195	T	0.15321	-1.0441	10	0.26408	T	0.33	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	P	202	ENSP00000340884:T202P;ENSP00000330393:T202P;ENSP00000360099:T202P;ENSP00000360098:T202P;ENSP00000360097:T202P	ENSP00000340884:T202P	T	+	1	0	0	LEPR	65831037	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.584491	1	0.170000	NM_002303			12	10		369	365	0		1	0		0	0	70	0		9.990624e-01	2.965032e-02	0	0	0	8	0	12	369
LEPR	3953	broad.mit.edu	37	1	66081902	66081902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66081902G>T	ENST00000349533.6	+	15	2392	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron	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)			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)		TGGCCTATGAGCAAAGGTAAG	0.373																																						ENST00000349533.6	0.740000	0.180000	5.800000e-01	2.800000e-01	0.410000	0.439906	0.410000	0.390000																										0				36						c.(2206-2208)aGc>aTc		leptin receptor							104.0	100.0	101.0					1																	66081902		2203	4300	6503	SO:0001583	missense	3953	0	0					g.chr1:66081902G>T	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.2207G>T	chr1.hg19:g.66081902G>T	ENSP00000330393:p.Ser736Ile	1					LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I	p.S736I	NM_002303.5	NP_002294.2	0	1	1	1.827221	O15243	OBRG_HUMAN		15	2392	+			Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	0	1	hg19	c.2207G>T	CCDS631.1	0	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929212	0.73327	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.5	4.59	0.56863	5.5	4.59	0.56863	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.272849	0.47455	D	0.000238	T	0.64918	0.2642	M	0.76574	2.34	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	T	0.71751	-0.4498	10	0.87932	D	0	-5.7801	14.3195	0.66476	0.0717:0.0:0.9283:0.0	.	736;736;736	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	736	ENSP00000340884:S736I;ENSP00000330393:S736I;ENSP00000360099:S736I;ENSP00000360098:S736I;ENSP00000360097:S736I	ENSP00000340884:S736I	S	+	2	0	0	LEPR	65854490	65854490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.916000	0.56416	1.317000	0.45149	-0.140000	0.14226	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-9.462511	1	0.170000	NM_002303			7	7		176	171	0		1	0		0	0	35	0		9.792688e-01	1.552616e-01	0	0	0	16	0	7	176
LEPR	3953	broad.mit.edu	37	1	66102160	66102160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66102160C>T	ENST00000349533.6	+	20	3145	c.2960C>T	c.(2959-2961)gCc>gTc	p.A987V	LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	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)			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)		GTTAAATACGCCACGCTGATC	0.433																																						ENST00000349533.6	0.500000	0.140000	4.000000e-01	2.000000e-01	0.290000	0.307485	0.290000	0.280000																										0				36						c.(2959-2961)gCc>gTc		leptin receptor							82.0	75.0	78.0					1																	66102160		2203	4300	6503	SO:0001583	missense	3953	2	121410	34				g.chr1:66102160C>T	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.2960C>T	chr1.hg19:g.66102160C>T	ENSP00000330393:p.Ala987Val	1					LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	p.A987V	NM_002303.5	NP_002294.2	0	1	1	1.827221	O15243	OBRG_HUMAN		20	3145	+			Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	0	1	hg19	c.2960C>T	CCDS631.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118589	0.77323	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.70045	-0.45	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.098323	0.64402	D	0.000001	D	0.82435	0.5036	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.83343	-0.0007	10	0.72032	D	0.01	-13.5821	20.3311	0.98718	0.0:1.0:0.0:0.0	.	987	P48357	LEPR_HUMAN	V	987;54	ENSP00000330393:A987V	ENSP00000330393:A987V	A	+	2	0	0	LEPR	65874748	65874748	1.000000	0.71417	0.973000	0.42090	0.284000	0.27059	5.286000	0.65639	2.803000	0.96430	0.650000	0.86243	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-9.274442	1	0.170000	NM_002303			9	9		329	323	0		1			0	0	98	0		9.938958e-01	0	0	0	0	0	0	9	329
SGIP1	84251	broad.mit.edu	37	1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	491	Pro-rich.				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)			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						CCCATTCATTCTTCCAGCCCT	0.453																																						ENST00000371037.4	1.000000	0.830000	9.900000e-01	8.900000e-01	0.950000	0.948923	0.950000	0.990000																										0				71						c.(1471-1473)tCt>tAt		SH3-domain GRB2-like (endophilin) interacting protein 1							177.0	168.0	171.0					1																	67155901		2203	4300	6503	SO:0001583	missense	84251	0	0					g.chr1:67155901C>A	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.1472C>A	chr1.hg19:g.67155901C>A	ENSP00000360076:p.Ser491Tyr	1					SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y	p.S491Y	NM_032291.2	NP_115667.2	0	1	1	1.827221	Q9BQI5	SGIP1_HUMAN		17	1549	+			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	1	1	hg19	c.1472C>A	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939189	0.92526	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.650667	0.17876	N	0.159010	T	0.15305	0.0369	M	0.64997	1.995	0.54753	D	0.999983	D;P;P;D	0.71674	0.998;0.826;0.826;0.963	D;P;P;P	0.78314	0.991;0.467;0.467;0.642	T	0.00326	-1.1815	10	0.56958	D	0.05	-11.7141	20.5792	0.99380	0.0:1.0:0.0:0.0	.	521;91;281;491	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Y	522;292;281;521;494;291;491	ENSP00000237247:S522Y;ENSP00000360078:S292Y;ENSP00000360074:S281Y;ENSP00000360075:S291Y;ENSP00000360076:S491Y	ENSP00000237247:S522Y	S	+	2	0	0	SGIP1	66928489	66928489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.561000	0.74099	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	0	0		16	2	2	1		1	1	196		196	195	1	2.060000	-20.000000	1	0.170000	NM_032291			93	93		821	791	1		1	0		1	0	196	0		1	5.609554e-01	0	0	0	18	0	93	821
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A	rs376669297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333																																						ENST00000282670.2	1.000000	0.950000	1	9.700000e-01	0.990000	0.992651	0.990000	0.990000																										0				13						c.(160-162)cGt>cAt		Tctex1 domain containing 1		G	HIS/ARG	0,4406		0,0,2203	192.0	187.0	189.0		161	-10.6	0.0	1		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTEX1D1	NM_152665.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	54/180	67236111	1,13005	2203	4300	6503	SO:0001583	missense	200132	11	121408	43				g.chr1:67236111G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.161G>A	chr1.hg19:g.67236111G>A	ENSP00000282670:p.Arg54His	1					TCTEX1D1_ENST00000491611.1_3'UTR	p.R54H	NM_152665.2	NP_689878.2	0	1	1	1.827221	Q8N7M0	TC1D1_HUMAN		3	289	+			Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	1	1	hg19	c.161G>A	CCDS633.1	1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570248	0.28003	0.0	1.16E-4	ENSG00000152760	ENST00000282670	T	0.14516	2.5	6.06	-10.6	0.00265	6.06	-10.6	0.00265	.	0.742522	0.13351	N	0.394416	T	0.01940	0.0061	N	0.24115	0.695	0.18873	N	0.999985	B	0.09022	0.002	B	0.04013	0.001	T	0.40997	-0.9533	10	0.28530	T	0.3	-21.7112	11.5878	0.50929	0.5997:0.2418:0.1585:0.0	.	54	Q8N7M0	TC1D1_HUMAN	H	54	ENSP00000282670:R54H	ENSP00000282670:R54H	R	+	2	0	0	TCTEX1D1	67008699	67008699	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.489000	0.06490	-1.795000	0.01255	-0.182000	0.12963	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_152665			137	136		453	444	1		1	0		0	0	144	0		1	2.339741e-01	0	0	0	4	0	137	453
INSL5	10022	broad.mit.edu	37	1	67266800	67266800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67266800C>T	ENST00000304526.2	-	1	139	c.105G>A	c.(103-105)cgG>cgA	p.R35R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	35						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AGATGACTGTCCGTATGTATT	0.473																																						ENST00000304526.2	0.490000	0.140000	3.900000e-01	2.100000e-01	0.280000	0.304357	0.280000	0.280000																										0				8						c.(103-105)cgG>cgA		insulin-like 5							117.0	105.0	109.0					1																	67266800		2203	4300	6503	SO:0001819	synonymous_variant	10022	0	0					g.chr1:67266800C>T	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.105G>A	chr1.hg19:g.67266800C>T		1						p.R35R	NM_005478.4	NP_005469.2	0	1	1	1.827221	Q9Y5Q6	INSL5_HUMAN		1	139	-			Q3MIY4|Q5VYD8	Silent	SNP	ENST00000304526.2	1	1	hg19	c.105G>A	CCDS634.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.553591	1	0.170000	NM_005478			10	10		367	360	0		1			0	0	67	0		9.966719e-01	0	0	0	0	0	0	10	367
WDR78	79819	broad.mit.edu	37	1	67299780	67299780	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	595					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333																																						ENST00000371026.3	1.000000	0.860000	1	9.200000e-01	0.970000	0.964518	0.970000	0.990000																										0				32						c.(1783-1785)gaA>gaG		WD repeat domain 78							100.0	95.0	96.0					1																	67299780		2203	4300	6503	SO:0001819	synonymous_variant	79819	0	0					g.chr1:67299780T>C	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.1785A>G	chr1.hg19:g.67299780T>C		1					WDR78_ENST00000431318.1_Silent_p.E341E	p.E595E	NM_024763.4	NP_079039.4	0	1	1	1.827221	Q5VTH9	WDR78_HUMAN		12	1840	-			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	1	1	hg19	c.1785A>G	CCDS635.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.999850	1	0.170000	NM_024763			37	37		141	138	1		1	0		0	0	49	0		1	5.912454e-01	0	0	0	9	0	37	141
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	rs375562160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																						ENST00000371026.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.987100	0.980000	0.990000																										0				32						c.(1660-1662)Gtt>Att		WD repeat domain 78		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104.0	103.0	103.0		1660	4.4	1.0	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	79819	8	121410	41				g.chr1:67301382C>T	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.1660G>A	chr1.hg19:g.67301382C>T	ENSP00000360065:p.Val554Ile	1					WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	p.V554I	NM_024763.4	NP_079039.4	0	1	1	1.827221	Q5VTH9	WDR78_HUMAN		11	1715	-			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	1	1	hg19	c.1660G>A	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	0	WDR78	67073970	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_024763			90	88		319	315	1		1	0		0	0	86	0		1	3.942207e-01	0	0	0	6	0	90	319
WDR78	79819	broad.mit.edu	37	1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	476					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398																																						ENST00000371026.3	1.000000	0.900000	1	9.400000e-01	0.970000	0.976141	0.970000	0.990000																										0				32						c.(1426-1428)tgG>tgA		WD repeat domain 78							197.0	192.0	194.0					1																	67306218		2203	4300	6503	SO:0001587	stop_gained	79819	0	0					g.chr1:67306218C>T	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.1428G>A	chr1.hg19:g.67306218C>T	ENSP00000360065:p.Trp476*	1					WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	p.W476*	NM_024763.4	NP_079039.4	0	1	1	1.827221	Q5VTH9	WDR78_HUMAN		9	1483	-			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	0	1	hg19	c.1428G>A	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439263	0.83885	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8706	18.8908	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	476;222;242;476;98	.	ENSP00000360062:W476X	W	-	3	0	0	WDR78	67078806	67078806	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.311000	0.72835	2.794000	0.96219	0.650000	0.86243	TGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_024763			69	69		357	349	1		1	0		0	0	69	0		1	6.887712e-01	0	0	0	14	0	69	357
C1orf141	400757	broad.mit.edu	37	1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N|C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328																																						ENST00000371007.2	1.000000	0.800000	9.900000e-01	8.800000e-01	0.950000	0.942678	0.950000	0.990000																										0				18						c.(976-978)aaA>aaC		chromosome 1 open reading frame 141							90.0	93.0	92.0					1																	67558913		2203	4300	6503	SO:0001583	missense	400757	0	0					g.chr1:67558913T>G	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.978A>C	chr1.hg19:g.67558913T>G	ENSP00000360046:p.Lys326Asn	1					C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	p.K326N	NM_001276351.1	NP_001263280.1	0	1	1	1.827221	Q5JVX7	CA141_HUMAN		8	1087	-			Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	1	1	hg19	c.978A>C	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660596	0.29515	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.48201	0.82;0.82;0.82	4.56	2.03	0.26663	4.56	2.03	0.26663	.	0.667620	0.13397	N	0.390906	T	0.17492	0.0420	L	0.32530	0.975	0.09310	N	1	P	0.39250	0.665	B	0.39805	0.31	T	0.08953	-1.0697	10	0.72032	D	0.01	-5.4976	4.0586	0.09827	0.0:0.1103:0.2124:0.6773	.	326	Q5JVX7	CA141_HUMAN	N	326	ENSP00000360046:K326N;ENSP00000360045:K326N;ENSP00000444018:K326N	ENSP00000360045:K326N	K	-	3	2	2	C1orf141	67331501	67331501	0.337000	0.24766	0.006000	0.13384	0.007000	0.05969	0.712000	0.25779	0.847000	0.35167	0.533000	0.62120	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-19.433930	1	0.170000	NM_001013674			58	58		471	468	1		1			0	0	119	0		1	0	0	0	0	0	0	58	471
C1orf141	400757	broad.mit.edu	37	1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A	rs563154808	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V|C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15768	0.0		0.0	False		,,,				2504	0.001					ENST00000371007.2	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.932898	0.940000	0.990000																										0				18						c.(862-864)gCg>gTg		chromosome 1 open reading frame 141							89.0	90.0	90.0					1																	67559028		2203	4299	6502	SO:0001583	missense	400757	28	121402	45				g.chr1:67559028G>A	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.863C>T	chr1.hg19:g.67559028G>A	ENSP00000360046:p.Ala288Val	1					C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	p.A288V	NM_001276351.1	NP_001263280.1	0	1	1	1.827221	Q5JVX7	CA141_HUMAN		8	972	-			Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	1	1	hg19	c.863C>T	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958916	0.02267	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.25250	1.81;1.81;1.81	4.86	-4.35	0.03656	4.86	-4.35	0.03656	.	3.875600	0.00807	N	0.001460	T	0.01730	0.0055	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.02654	T	1	4.6833	3.9217	0.09247	0.4152:0.0:0.3258:0.2589	.	288	Q5JVX7	CA141_HUMAN	V	288	ENSP00000360046:A288V;ENSP00000360045:A288V;ENSP00000444018:A288V	ENSP00000360045:A288V	A	-	2	0	0	C1orf141	67331616	67331616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	-0.927000	0.03766	-1.456000	0.01031	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.318794	1	0.170000	NM_001013674			52	52		437	428	1		1			0	0	100	0		1	0	0	0	0	0	0	52	437
IL23R	149233	broad.mit.edu	37	1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000371002.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	350					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343																																						ENST00000347310.5	0.990000	0.520000	9.300000e-01	6.500000e-01	0.800000	0.794229	0.800000	0.830000																										0				21						c.(1048-1050)aAc>aGc		interleukin 23 receptor							182.0	166.0	171.0					1																	67705865		2203	4299	6502	SO:0001583	missense	149233	0	0					g.chr1:67705865A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1049A>G	chr1.hg19:g.67705865A>G	ENSP00000321345:p.Asn350Ser	1					AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	p.N350S	NM_144701.2	NP_653302.2	0	1	1	1.827221	Q5VWK5	IL23R_HUMAN		9	1220	+			C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	1	1	hg19	c.1049A>G	CCDS637.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.206588|2.206588	0.39003|0.39003	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.37915|.	1.17;1.29|.	5.19|5.19	1.56|1.56	0.23342|0.23342	5.19|5.19	1.56|1.56	0.23342|0.23342	.|.	1.218930|.	0.05371|.	N|.	0.535435|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B;B;P;P;B;P|.	0.38504|.	0.091;0.037;0.091;0.037;0.005;0.634;0.571;0.091;0.571|.	B;B;B;B;B;B;B;B;B|.	0.33392|.	0.027;0.012;0.027;0.018;0.003;0.124;0.163;0.027;0.121|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	-18.5664|-18.5664	6.9466|6.9466	0.24522|0.24522	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	96;174;174;108;179;204;257;95;350|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	S|A	350;179;108;95|112	ENSP00000321345:N350S;ENSP00000378652:N95S|.	ENSP00000321345:N350S|.	N|T	+|+	2|1	0|0	0|0	IL23R|IL23R	67478453|67478453	67478453|67478453	0.011000|0.011000	0.17503|0.17503	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	1.051000|1.051000	0.30417|0.30417	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-7.490248	1	0.170000	NM_144701			19	18		217	215	0		1			0	0	46	0		9.999915e-01	0	0	0	0	0	0	19	217
DEPDC1	55635	broad.mit.edu	37	1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A	rs369570198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	231					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)			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)		ACTACTCCACGTTTACTTGTA	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14955	0.0		0.0	False		,,,				2504	0.0					ENST00000456315.2	0.970000	0.460000	8.900000e-01	5.900000e-01	0.740000	0.743976	0.740000	0.750000																										0				13						c.(691-693)Cgt>Tgt		DEP domain containing 1		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	150.0	140.0	143.0		691,691	5.3	1.0	1		143	0,8598		0,0,4299	no	missense,missense	DEPDC1	NM_001114120.1,NM_017779.4	180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	231/812,231/528	68954087	1,12999	2201	4299	6500	SO:0001583	missense	55635	2	121386	33				g.chr1:68954087G>A	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.691C>T	chr1.hg19:g.68954087G>A	ENSP00000412292:p.Arg231Cys	1					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	p.R231C	NM_001114120.1	NP_001107592.1	0	1	1	1.827221	Q5TB30	DEP1A_HUMAN		5	805	-			A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	1	1	hg19	c.691C>T	CCDS44159.1	0	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467382	0.43839	2.27E-4	0.0	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18174	2.23;2.23;2.23	5.34	5.34	0.76211	5.34	5.34	0.76211	Rho GTPase activation protein (1);	0.133715	0.64402	D	0.000002	T	0.07908	0.0198	N	0.14661	0.345	0.38425	D	0.946294	P;P	0.52842	0.837;0.956	B;B	0.42882	0.326;0.401	T	0.09164	-1.0687	10	0.66056	D	0.02	-2.1483	19.0216	0.92917	0.0:0.0:1.0:0.0	.	231;231	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	231;231;176;10	ENSP00000412292:R231C;ENSP00000360005:R231C;ENSP00000431477:R10C	ENSP00000360003:R176C	R	-	1	0	0	DEPDC1	68726675	68726675	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	8.664000	0.91139	2.488000	0.83962	0.585000	0.79938	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-6.754295	1	0.170000	NM_017779			18	18		232	230	0		1	1		0	0	46	0		9.999837e-01	1.198161e-01	0	2	0	6	0	18	232
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T	rs200701056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000035383.5	+	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F44F(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						TCTTTAACTTCGAACGAACAT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0					ENST00000035383.5	1.000000	0.720000	9.800000e-01	8.300000e-01	0.920000	0.911039	0.920000	0.990000																										1	Substitution - coding silent(1)	p.F44F(1)	large_intestine(1)	162						c.(130-132)ttC>ttT		leucine rich repeat containing 7							84.0	83.0	83.0					1																	70226019		2203	4300	6503	SO:0001819	synonymous_variant	57554	0	0					g.chr1:70226019C>T		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.132C>T	chr1.hg19:g.70226019C>T		1					LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	p.F44F	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		1	162	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	1	1	hg19	c.132C>T	CCDS645.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-12.709110	1	0.170000	NM_020794			31	31		251	246	1		1			0	0	58	0		1	0	0	0	0	0	0	31	251
LRRC7	57554	broad.mit.edu	37	1	70300475	70300475	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000035383.5	+	4	429	c.399C>A	c.(397-399)ggC>ggA	p.G133G	LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000310961.5_Silent_p.G138G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACCTGATGGCTTCACACAGC	0.348																																						ENST00000035383.5	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.907328	0.910000	0.990000																										0				162						c.(397-399)ggC>ggA		leucine rich repeat containing 7							153.0	142.0	146.0					1																	70300475		2203	4300	6503	SO:0001819	synonymous_variant	57554	0	0					g.chr1:70300475C>A		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.399C>A	chr1.hg19:g.70300475C>A		1					LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000310961.5_Silent_p.G138G|LRRC7_ENST00000415775.2_5'UTR	p.G133G	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		4	429	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	1	1	hg19	c.399C>A	CCDS645.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1		16	2	2	1		1	1	97		97	97	1	2.060000	-3.318794	1	0.170000	NM_020794			43	43		394	390	1		1	0		1	0	97	0		9.999269e-01	0	0	0	0	1	0	43	394
LRRC7	57554	broad.mit.edu	37	1	70486761	70486761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000035383.5	+	14	1410	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Silent_p.A465A|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	460						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTTGCCTTTGAATTTG	0.378																																						ENST00000035383.5	1.000000	0.870000	1	9.300000e-01	0.970000	0.970134	0.970000	0.990000																										0				162						c.(1378-1380)gcC>gcT		leucine rich repeat containing 7							86.0	82.0	83.0					1																	70486761		2203	4300	6503	SO:0001819	synonymous_variant	57554	0	0					g.chr1:70486761C>T		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.1380C>T	chr1.hg19:g.70486761C>T		1					LRRC7_ENST00000310961.5_Silent_p.A465A|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	p.A460A	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		14	1410	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	1	1	hg19	c.1380C>T	CCDS645.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_020794			42	42		148	143	1		1			0	0	36	0		1	0	0	0	0	0	0	42	148
LRRC7	57554	broad.mit.edu	37	1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000035383.5	+	19	2228	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	LRRC7_ENST00000310961.5_Missense_Mutation_p.P738L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	733						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCACAGCCTCTTGATTCA	0.498																																						ENST00000035383.5	0.990000	0.700000	9.500000e-01	7.800000e-01	0.870000	0.872755	0.870000	0.890000																										0				162						c.(2197-2199)cCt>cTt		leucine rich repeat containing 7							146.0	154.0	151.0					1																	70503819		2203	4300	6503	SO:0001583	missense	57554	0	0					g.chr1:70503819C>T		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.2198C>T	chr1.hg19:g.70503819C>T	ENSP00000035383:p.Pro733Leu	1					LRRC7_ENST00000310961.5_Missense_Mutation_p.P738L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	p.P733L	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		19	2228	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	1	1	hg19	c.2198C>T	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999194	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.68025	-0.3;-0.18;1.35	5.38	4.46	0.54185	5.38	4.46	0.54185	.	0.128125	0.52532	D	0.000064	T	0.67401	0.2889	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.67110	-0.5753	10	0.33141	T	0.24	.	13.5366	0.61650	0.0:0.9239:0.0:0.0761	.	17;733	F8WE45;Q96NW7	.;LRRC7_HUMAN	L	738;733;17;556	ENSP00000309245:P738L;ENSP00000035383:P733L;ENSP00000394867:P17L	ENSP00000035383:P733L	P	+	2	0	0	LRRC7	70276407	70276407	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.420000	0.80191	1.250000	0.43966	0.467000	0.42956	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1		2	2	2	0		0	0	200		200	200	1	2.060000	-17.425520	1	0.170000	NM_020794			77	76		844	820	0		1			0	0	200	0		1	0	0	0	0	0	0	77	844
LRRC7	57554	broad.mit.edu	37	1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000035383.5	+	19	2521	c.2491A>G	c.(2491-2493)Aca>Gca	p.T831A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T836A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	831						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGACACACACCAGAAAC	0.498																																						ENST00000035383.5	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.915514	0.920000	0.990000																										0				162						c.(2491-2493)Aca>Gca		leucine rich repeat containing 7							75.0	78.0	77.0					1																	70504112		2203	4300	6503	SO:0001583	missense	57554	0	0					g.chr1:70504112A>G		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.2491A>G	chr1.hg19:g.70504112A>G	ENSP00000035383:p.Thr831Ala	1					LRRC7_ENST00000310961.5_Missense_Mutation_p.T836A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	p.T831A	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		19	2521	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	1	1	hg19	c.2491A>G	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732561	0.30684	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.53	4.34	0.51931	5.53	4.34	0.51931	.	0.180173	0.50627	D	0.000103	T	0.14056	0.0340	L	0.40543	1.245	0.35902	D	0.830459	B;B;B	0.17465	0.007;0.005;0.022	B;B;B	0.19148	0.018;0.011;0.024	T	0.06770	-1.0808	10	0.44086	T	0.13	.	7.076	0.25205	0.7017:0.1522:0.0:0.1461	.	115;831;831	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	836;831;115;654	ENSP00000309245:T836A;ENSP00000035383:T831A;ENSP00000394867:T115A	ENSP00000035383:T831A	T	+	1	0	0	LRRC7	70276700	70276700	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.430000	0.52807	2.113000	0.64589	0.383000	0.25322	ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	1		14	2	2	1		1	1	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_020794			34	34		277	269	1		1			1	0	83	0		9.990236e-01	0	0	0	0	0	0	34	277
LRRC7	57554	broad.mit.edu	37	1	70541910	70541910	+	Silent	SNP	C	C	A	rs199872098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000035383.5	+	22	4297	c.4267C>A	c.(4267-4269)Cgg>Agg	p.R1423R	LRRC7_ENST00000310961.5_Silent_p.R1381R|LRRC7_ENST00000415775.2_Silent_p.R707R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1423						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCACCCGGGGACCTCA	0.473																																						ENST00000035383.5	0.620000	0.250000	5.200000e-01	3.300000e-01	0.410000	0.432408	0.410000	0.410000																										0				162						c.(4267-4269)Cgg>Agg		leucine rich repeat containing 7							83.0	83.0	83.0					1																	70541910		2203	4300	6503	SO:0001819	synonymous_variant	57554	0	0					g.chr1:70541910C>A		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.4267C>A	chr1.hg19:g.70541910C>A		1					LRRC7_ENST00000310961.5_Silent_p.R1381R|LRRC7_ENST00000415775.2_Silent_p.R707R	p.R1423R	NM_020794.2	NP_065845.1	0	1	1	1.827221	Q96NW7	LRRC7_HUMAN		22	4297	+			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	1	1	hg19	c.4267C>A	CCDS645.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.409110	0	0.170000	NM_020794			18	17		443	435	0		1			0	0	104	0		9.999794e-01	0	0	0	0	0	0	18	443
ANKRD13C	81573	broad.mit.edu	37	1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAATTCCTGGCTCATGGCTAT	0.358																																						ENST00000370944.4	0.410000	0.160000	3.500000e-01	2.100000e-01	0.270000	0.282896	0.270000	0.270000																										0				19						c.(1366-1368)aGc>aTc		ankyrin repeat domain 13C							186.0	191.0	189.0					1																	70740430		2203	4300	6503	SO:0001583	missense	81573	0	0					g.chr1:70740430C>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1367G>T	chr1.hg19:g.70740430C>A	ENSP00000359982:p.Ser456Ile	1					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	p.S456I	NM_030816.4	NP_110443.3	0	1	1	1.827221	Q8N6S4	AN13C_HUMAN		11	1680	-			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	1	1	hg19	c.1367G>T	CCDS648.2	0	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.58210	0.35;0.35	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.80995	-0.1133	10	0.87932	D	0	-15.944	18.7421	0.91777	0.0:1.0:0.0:0.0	.	421;456	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	456;421	ENSP00000359982:S456I;ENSP00000262346:S421I	ENSP00000262346:S421I	S	-	2	0	0	ANKRD13C	70513018	70513018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.404000	0.79996	2.537000	0.85549	0.563000	0.77884	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	0	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-2.739490	1	0.170000	NM_030816			17	16		656	645	0		1	1		0	0	151	0		9.999588e-01	7.076781e-01	0	5	0	91	0	17	656
ANKRD13C	81573	broad.mit.edu	37	1	70742526	70742526	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313																																						ENST00000370944.4	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.946204	0.950000	0.990000																										0				19						c.(1216-1218)cCg>cTg		ankyrin repeat domain 13C							47.0	52.0	50.0					1																	70742526		2203	4298	6501	SO:0001630	splice_region_variant	81573	0	0					g.chr1:70742526G>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1216-1C>T	chr1.hg19:g.70742526G>A		1					ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L|ANKRD13C_ENST00000464236.1_5'UTR	p.P406L	NM_030816.4	NP_110443.3	0	1	1	1.827221	Q8N6S4	AN13C_HUMAN		10	1530	-			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Splice_Site	SNP	ENST00000370944.4	1	0	hg19	c.1217C>T	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958445	0.53400	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.048245	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55990	1.75	0.80722	D	1	P;B	0.36282	0.546;0.387	B;B	0.32928	0.096;0.155	T	0.06789	-1.0807	10	0.22109	T	0.4	.	18.2515	0.90005	0.0:0.0:1.0:0.0	.	371;406	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	406;371	ENSP00000359982:P406L;ENSP00000262346:P371L	ENSP00000262346:P371L	P	-	2	0	0	ANKRD13C	70515114	70515114	1.000000	0.71417	0.846000	0.33378	0.642000	0.38348	8.934000	0.92915	2.564000	0.86499	0.563000	0.77884	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.189106	1	0.170000	NM_030816	Missense_Mutation		30	26		156	142	1		1	1		0	0	42	0		1	9.999893e-01	0	22	0	75	0	30	156
HHLA3	11147	broad.mit.edu	37	1	70832204	70832204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70832204C>T	ENST00000359875.5	+	2	475	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	112										large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413																																						ENST00000359875.5	0.990000	0.460000	9.500000e-01	6.300000e-01	0.810000	0.795841	0.810000	0.980000																										0				4						c.(334-336)gCg>gTg		HERV-H LTR-associating 3							9.0	10.0	10.0					1																	70832204		2158	4207	6365	SO:0001583	missense	11147	0	0					g.chr1:70832204C>T	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.335C>T	chr1.hg19:g.70832204C>T	ENSP00000352938:p.Ala112Val	1					HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*|HHLA3_ENST00000361764.4_3'UTR	p.A112V	NM_001036645.1	NP_001031722.1	0	1	1	1.827221	Q9XRX5	HHLA3_HUMAN		2	475	+			D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	0	1	hg19	c.335C>T	CCDS30753.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.009|7.009	0.556444|0.556444	0.13436|0.13436	.|.	.|.	ENSG00000197568|ENSG00000197568	ENST00000359875;ENST00000531950|ENST00000370940;ENST00000432224	.|.	.|.	.|.	0.137|0.137	0.137|0.137	0.14787|0.14787	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|.	.|.	.|.	.|.	T|.	0.11793|.	0.0287|.	.|.	.|.	.|.	0.42570|0.42570	D|D	0.993172|0.993172	B|.	0.31611|.	0.331|.	B|.	0.17722|.	0.019|.	T|.	0.24119|.	-1.0169|.	6|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	112|.	Q9XRX5|.	HHLA3_HUMAN|.	V|X	112|80;113	.|.	ENSP00000352938:A112V|ENSP00000359978:R80X	A|R	+|+	2|1	0|2	0|2	HHLA3|HHLA3	70604792|70604792	70604792|70604792	0.003000|0.003000	0.15002|0.15002	0.016000|0.016000	0.15963|0.15963	0.016000|0.016000	0.09150|0.09150	0.283000|0.283000	0.18846|0.18846	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	GCG|CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-15.434430	1	0.170000	NM_007071			9	9		82	82	0		1	1		0	0	10	0		9.950054e-01	9.852267e-01	0	13	0	58	0	9	82
PTGER3	5733	broad.mit.edu	37	1	71437417	71437417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000460330.1_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						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)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTTTCATTATCTGTTAGAATA	0.303																																						ENST00000306666.5	0.450000	0.150000	3.700000e-01	2.100000e-01	0.280000	0.293211	0.280000	0.270000																										0				25						c.e4-1		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)						102.0	110.0	107.0					1																	71437417		2203	4297	6500	SO:0001630	splice_region_variant	5733	0	0					g.chr1:71437417C>T	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.1170-1G>A	chr1.hg19:g.71437417C>T		1					PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron		NM_198719.1	NP_942012.1	0	1	1	1.827221	P43115	PE2R3_HUMAN		4	1380	-			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000306666.5	1	1	hg19		CCDS657.1	0	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260033	0.59321	.	.	ENSG00000050628	ENST00000306666	.	.	.	4.19	4.19	0.49359	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3246	0.55003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PTGER3	71210005	71210005	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.904000	0.48719	2.605000	0.88082	0.650000	0.86243	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.303	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.418848	0	0.170000	NM_000957	Intron		13	13		489	481	0		1			0	0	103	0		9.994921e-01	0	0	0	0	0	0	13	489
PTGER3	5733	broad.mit.edu	37	1	71512538	71512538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000306666.5	-	1	933	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000370924.4_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	241					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)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGACTGTCAGCGCCAAGAGCC	0.632																																						ENST00000306666.5	1.000000	0.710000	9.700000e-01	8.100000e-01	0.900000	0.894761	0.900000	0.960000																										0				25						c.(721-723)gcG>gcA		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)						94.0	92.0	92.0					1																	71512538		2203	4300	6503	SO:0001819	synonymous_variant	5733	0	0					g.chr1:71512538C>T	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.723G>A	chr1.hg19:g.71512538C>T		1					PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000370924.4_Silent_p.A241A|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A	p.A241A	NM_198719.1	NP_942012.1	0	1	1	1.827221	P43115	PE2R3_HUMAN		1	933	-			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	1	1	hg19	c.723G>A	CCDS657.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	1	0	1		17	2	2	0		0	1	117		117	117	1	2.060000	-14.859900	1	0.170000	NM_000957			53	53		530	528	0		1	0		0	0	117	0		9.999983e-01	4.561036e-02	0	0	0	4	0	53	530
ZRANB2	9406	broad.mit.edu	37	1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408																																						ENST00000370920.3	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.928084	0.930000	0.990000																										0				15						c.(601-603)Cga>Tga		zinc finger, RAN-binding domain containing 2							224.0	212.0	216.0					1																	71536592		2203	4300	6503	SO:0001587	stop_gained	9406	0	0					g.chr1:71536592G>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.601C>T	chr1.hg19:g.71536592G>A	ENSP00000359958:p.Arg201*	1					ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	p.R201*	NM_203350.2	NP_976225.1	0	1	1	1.827221	O95218	ZRAB2_HUMAN		7	902	-			D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Nonsense_Mutation	SNP	ENST00000370920.3	0	1	hg19	c.601C>T	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.206621	0.98136	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.76	3.75	0.43078	5.76	3.75	0.43078	.	0.189634	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.2861	0.66247	0.0:0.0:0.6251:0.3749	.	.	.	.	X	201	.	ENSP00000254821:R201X	R	-	1	2	2	ZRANB2	71309180	71309180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	1.531000	0.49152	0.650000	0.86243	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_203350			50	49		428	425	1		1	1		0	0	74	0		1	9.999892e-01	0	4	0	140	0	50	428
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	153	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388																																						ENST00000357731.5	1.000000	0.680000	9.800000e-01	8.100000e-01	0.910000	0.902682	0.910000	0.990000																										0				32						c.(457-459)Gga>Aga		neuronal growth regulator 1							115.0	104.0	107.0					1																	72241933		2203	4300	6503	SO:0001583	missense	257194	0	0					g.chr1:72241933C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.457G>A	chr1.hg19:g.72241933C>T	ENSP00000350364:p.Gly153Arg	1					NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R	p.G153R	NM_173808.2	NP_776169.2	0	1	1	1.827221	Q7Z3B1	NEGR1_HUMAN		3	696	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	0	1	hg19	c.457G>A	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679154	0.68042	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.946	D	0.93664	0.6984	10	0.87932	D	0	-8.9553	18.9902	0.92788	0.0:1.0:0.0:0.0	.	151;153	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	R	153;25;151	ENSP00000350364:G153R;ENSP00000305938:G25R;ENSP00000413294:G151R	ENSP00000305938:G25R	G	-	1	0	0	NEGR1	72014521	72014521	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.137000	0.77295	2.780000	0.95670	0.655000	0.94253	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_173808			17	16		103	103	1		1	0		0	0	16	0		9.999760e-01	9.358497e-01	0	0	0	31	0	17	103
LRRIQ3	127255	broad.mit.edu	37	1	74492596	74492596	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000395089.1	-	7	1775	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000354431.4_Silent_p.A592A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	592										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						CTTTTTCAAAGGCAATCATAT	0.284																																						ENST00000395089.1	0.910000	0.270000	7.500000e-01	3.900000e-01	0.560000	0.579348	0.560000	0.540000																										0				73						c.(1774-1776)gcC>gcA		leucine-rich repeats and IQ motif containing 3							96.0	86.0	89.0					1																	74492596		1801	4057	5858	SO:0001819	synonymous_variant	127255	0	0					g.chr1:74492596G>T	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.1776C>A	chr1.hg19:g.74492596G>T		1					LRRIQ3_ENST00000354431.4_Silent_p.A592A	p.A592A			0	1	1	1.827221	A6PVS8	LRIQ3_HUMAN		7	1775	-			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	1	1	hg19	c.1776C>A	CCDS41350.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-11.424230	1	0.170000	NM_145258			8	8		143	141	0		1			0	0	52	0		9.894147e-01	0	0	0	0	0	0	8	143
LRRIQ3	127255	broad.mit.edu	37	1	74649258	74649258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000395089.1	-	1	110	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000354431.4_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	37										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						ttaaatgaaggccattgaact	0.333																																						ENST00000395089.1	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.952646	0.960000	0.990000																										0				73						c.(109-111)ggC>ggT		leucine-rich repeats and IQ motif containing 3							57.0	60.0	59.0					1																	74649258		2201	4296	6497	SO:0001819	synonymous_variant	127255	0	0					g.chr1:74649258G>A	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.111C>T	chr1.hg19:g.74649258G>A		1					LRRIQ3_ENST00000354431.4_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G	p.G37G			0	1	1	1.827221	A6PVS8	LRIQ3_HUMAN		1	110	-			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	1	1	hg19	c.111C>T	CCDS41350.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-18.876570	1	0.170000	NM_145258			31	31		142	141	1		1			0	0	46	0		1	0	0	0	0	0	0	31	142
ERICH3	127254	broad.mit.edu	37	1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1469	Glu-rich.									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						TCAGCTGCTCCTGTCTCCTGC	0.582																																						ENST00000326665.5	1.000000	0.950000	1	9.700000e-01	0.990000	0.991936	0.990000	0.990000																										0				184						c.(4405-4407)Gga>Tga									122.0	107.0	112.0					1																	75036989		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr1:75036989C>A																												ENST00000326665.5:c.4405G>T	chr1.hg19:g.75036989C>A	ENSP00000322609:p.Gly1469*	1					C1orf173_ENST00000433746.2_5'UTR	p.G1469*	NM_001002912.4	NP_001002912.4	0	1	1	1.827221	Q5RHP9	ERIC3_HUMAN		14	4623	-			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	0	1	hg19	c.4405G>T	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.919568	0.99295	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.77	3.86	0.44501	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.40158	D	0.977036	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.6351	10.9771	0.47472	0.0:0.9068:0.0:0.0932	.	.	.	.	X	1469	.	ENSP00000322609:G1469X	G	-	1	0	0	C1orf173	74809577	74809577	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.475000	0.22164	0.995000	0.38917	-0.254000	0.11334	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000				150	148		646	626	1		1			0	0	138	0		1	0	0	0	0	0	0	150	646
ERICH3	127254	broad.mit.edu	37	1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1390	Glu-rich.									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						CTAACTCATCCTGTTGGTGCC	0.517																																						ENST00000326665.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.988287	0.980000	0.990000																										0				184						c.(4168-4170)caG>caT									103.0	100.0	101.0					1																	75037224		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:75037224C>A																												ENST00000326665.5:c.4170G>T	chr1.hg19:g.75037224C>A	ENSP00000322609:p.Gln1390His	1					C1orf173_ENST00000433746.2_5'UTR	p.Q1390H	NM_001002912.4	NP_001002912.4	0	1	1	1.827221	Q5RHP9	ERIC3_HUMAN		14	4388	-			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	1	1	hg19	c.4170G>T	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161345	0.21538	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	4.73	0.676	0.17958	4.73	0.676	0.17958	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.34385	0.181	T	0.45585	-0.9251	9	0.46703	T	0.11	-1.062	8.0007	0.30295	0.0:0.5457:0.0:0.4543	.	1390	Q5RHP9	CA173_HUMAN	H	1390	ENSP00000322609:Q1390H	ENSP00000322609:Q1390H	Q	-	3	2	2	C1orf173	74809812	74809812	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.087000	0.14958	0.081000	0.16988	0.561000	0.74099	CAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0	0	1		17	2	2	1		1	1	134		134	132	1	2.060000	-3.180453	1	0.170000				117	116		540	530	1		1			1	0	134	0		1	0	0	0	0	0	0	117	540
ERICH3	127254	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		975	Glu-rich.							p.L975I(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						TCTCCCCCAAGAATTGCCTCT	0.522																																						ENST00000326665.5	1.000000	0.950000	1	9.700000e-01	0.980000	0.990577	0.980000	0.990000																										1	Substitution - Missense(1)	p.L975I(1)	large_intestine(1)	184						c.(2923-2925)Ctt>Ttt									128.0	118.0	121.0					1																	75038471		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:75038471G>A																												ENST00000326665.5:c.2923C>T	chr1.hg19:g.75038471G>A	ENSP00000322609:p.Leu975Phe	1					C1orf173_ENST00000433746.2_5'UTR	p.L975F	NM_001002912.4	NP_001002912.4	0	1	1	1.827221	Q5RHP9	ERIC3_HUMAN		14	3141	-			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	1	1	hg19	c.2923C>T	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669012	0.29604	.	.	ENSG00000178965	ENST00000326665	T	0.19394	2.15	4.65	-0.235	0.13071	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04588	0.0125	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.41070	-0.9529	9	0.52906	T	0.07	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	F	975	ENSP00000322609:L975F	ENSP00000322609:L975F	L	-	1	0	0	C1orf173	74811059	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1		2	2	2	0		0	0	100		100	97	1	2.060000	-4.208897	1	0.170000				117	115		417	411	1		1			0	0	100	0		1	0	0	0	0	0	0	117	417
ERICH3	127254	broad.mit.edu	37	1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		363										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						ACAACAGGAGCTTAACCTGTT	0.443																																						ENST00000326665.5	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.951601	0.960000	0.990000																										0				184						c.(1087-1089)aGc>aTc									105.0	100.0	101.0					1																	75078406		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:75078406C>A																												ENST00000326665.5:c.1088G>T	chr1.hg19:g.75078406C>A	ENSP00000322609:p.Ser363Ile	1					C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	p.S363I	NM_001002912.4	NP_001002912.4	0	1	1	1.827221	Q5RHP9	ERIC3_HUMAN		9	1306	-			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	1	1	hg19	c.1088G>T	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.114819	0.94339	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.61980	0.56;0.06	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	T	0.78941	0.4363	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80400	-0.1398	9	0.87932	D	0	-16.7027	19.649	0.95793	0.0:1.0:0.0:0.0	.	166;363	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	363;166	ENSP00000322609:S363I;ENSP00000398581:S166I	ENSP00000322609:S363I	S	-	2	0	0	C1orf173	74850994	74850994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.808000	0.96608	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				38	37		221	215	1		1	0		0	0	67	0		1	0	0	0	0	1	0	38	221
TYW3	127253	broad.mit.edu	37	1	75204373	75204373	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388																																						ENST00000370867.3	1.000000	0.780000	9.900000e-01	8.800000e-01	0.950000	0.939758	0.950000	0.990000																										0				15						c.e3-1		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)							121.0	114.0	116.0					1																	75204373		2203	4300	6503	SO:0001630	splice_region_variant	127253	0	0					g.chr1:75204373G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.256-1G>A	chr1.hg19:g.75204373G>A		1					TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000421739.2_Intron		NM_138467.2	NP_612476.1	0	1	1	1.827221	Q6IPR3	TYW3_HUMAN		3	344	+			B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Splice_Site	SNP	ENST00000370867.3	1	1	hg19		CCDS666.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073238	0.36566	.	.	ENSG00000162623	ENST00000370867	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TYW3	74976961	74976961	1.000000	0.71417	0.983000	0.44433	0.060000	0.15804	5.848000	0.69458	2.937000	0.99478	0.650000	0.86243	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_138467	Intron		26	26		133	130	1		1			0	0	34	0		9.999999e-01	0	0	0	0	0	0	26	133
LHX8	431707	broad.mit.edu	37	1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512																																						ENST00000294638.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.988985	0.980000	0.990000																										0				30						c.(877-879)Cca>Tca		LIM homeobox 8							283.0	248.0	260.0					1																	75622644		2203	4300	6503	SO:0001583	missense	431707	0	0					g.chr1:75622644C>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.877C>T	chr1.hg19:g.75622644C>T	ENSP00000294638:p.Pro293Ser	1					LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	p.P293S	NM_001001933.1	NP_001001933.1	0	1	1	1.827221	Q68G74	LHX8_HUMAN		9	1541	+			E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	1	1	hg19	c.877C>T	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799984	0.50208	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.22	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.80914	0.4715	L	0.55481	1.735	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.77688	-0.2494	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	S	293;283	ENSP00000294638:P293S;ENSP00000348597:P283S	ENSP00000294638:P293S	P	+	1	0	0	LHX8	75395232	75395232	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.114118	1	0.170000	NM_001001933			108	103		417	407	1		1	0		0	0	97	0		1	0	0	0	0	1	0	108	417
SLC44A5	204962	broad.mit.edu	37	1	75683558	75683558	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000370859.3_Silent_p.R539R|SLC44A5_ENST00000535611.1_Silent_p.R409R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	539					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)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358																																						ENST00000370855.5	1.000000	0.750000	9.900000e-01	8.500000e-01	0.940000	0.927547	0.940000	0.990000																										0				61						c.(1615-1617)cgT>cgC		solute carrier family 44, member 5							55.0	57.0	56.0					1																	75683558		2203	4299	6502	SO:0001819	synonymous_variant	204962	0	0					g.chr1:75683558A>G	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.1617T>C	chr1.hg19:g.75683558A>G		1					SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	p.R539R	NM_152697.4	NP_689910.2	0	1	1	1.827221	Q8NCS7	CTL5_HUMAN		18	1730	-			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	1	1	hg19	c.1617T>C	CCDS667.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-13.147450	1	0.170000	NM_152697			24	23		141	136	1		1	1		0	0	50	0		9.999997e-01	6.210107e-02	0	2	0	1	0	24	141
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T	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																																						ENST00000370855.5	1.000000	0.840000	1	9.100000e-01	0.960000	0.959511	0.960000	0.990000																										1	Substitution - Missense(1)	p.A517S(1)	large_intestine(1)	61						c.(1549-1551)Gca>Aca		solute carrier family 44, member 5							49.0	53.0	52.0					1																	75683626		2203	4299	6502	SO:0001583	missense	204962	0	0					g.chr1:75683626C>T	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>A	chr1.hg19:g.75683626C>T	ENSP00000359892:p.Ala517Thr	1					SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	p.A517T	NM_152697.4	NP_689910.2	0	1	1	1.827221	Q8NCS7	CTL5_HUMAN		18	1662	-			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	1	1	hg19	c.1549G>A	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.341665	0.95783	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.30182	1.54;1.54;1.54	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.64940	0.2644	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.993;0.994;0.993;0.974;0.99	T	0.73401	-0.3994	10	0.62326	D	0.03	-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;.;.	T	517;556;517;387;510	ENSP00000359896:A517T;ENSP00000359892:A517T;ENSP00000443090:A387T	ENSP00000359892:A517T	A	-	1	0	0	SLC44A5	75456214	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	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.289	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-19.974960	1	0.170000	NM_152697			33	32		130	130	1		1			0	0	57	0		1	0	0	0	0	0	0	33	130
SLC44A5	204962	broad.mit.edu	37	1	75684943	75684943	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000370859.3_Splice_Site_p.E422G|SLC44A5_ENST00000535611.1_Splice_Site_p.E292G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	422					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)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGTACTTACCTCTGGGTCACA	0.413																																						ENST00000370855.5	0.730000	0.230000	5.900000e-01	3.300000e-01	0.440000	0.465768	0.440000	0.430000																										0				61						c.(1264-1266)gAg>gGg		solute carrier family 44, member 5							94.0	89.0	91.0					1																	75684943		2203	4300	6503	SO:0001630	splice_region_variant	204962	0	0					g.chr1:75684943T>C	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.1266+1A>G	chr1.hg19:g.75684943T>C		1					SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	p.E422G	NM_152697.4	NP_689910.2	0	1	1	1.827221	Q8NCS7	CTL5_HUMAN		16	1378	-			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	0	1	hg19	c.1265A>G	CCDS667.1	0	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532786	0.45073	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15372	2.86;2.86;2.43	4.85	0.696	0.18075	4.85	0.696	0.18075	.	0.429376	0.26373	N	0.024753	T	0.07369	0.0186	L	0.56769	1.78	0.43385	D	0.995495	B;B;B;B;B	0.23650	0.01;0.041;0.089;0.008;0.072	B;B;B;B;B	0.31547	0.048;0.081;0.125;0.028;0.132	T	0.09292	-1.0681	10	0.29301	T	0.29	-0.3	8.0219	0.30415	0.1248:0.0:0.2596:0.6156	.	416;461;422;422;461	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	G	422;461;422;292;415	ENSP00000359896:E422G;ENSP00000359892:E422G;ENSP00000443090:E292G	ENSP00000359892:E422G	E	-	2	0	0	SLC44A5	75457531	75457531	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.313000	0.43735	0.251000	0.21505	0.533000	0.62120	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	0	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-12.987610	1	0.170000	NM_152697	Missense_Mutation		11	11		254	252	0		1	0		0	0	70	0		9.983631e-01	6.082342e-02	0	0	0	9	0	11	254
SLC44A5	204962	broad.mit.edu	37	1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N|SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	358					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)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413																																						ENST00000370855.5	1.000000	0.740000	9.900000e-01	8.500000e-01	0.930000	0.923398	0.930000	0.990000																										0				61						c.(1072-1074)aaG>aaT		solute carrier family 44, member 5							141.0	126.0	131.0					1																	75688057		2203	4300	6503	SO:0001583	missense	204962	0	0					g.chr1:75688057C>A	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.1074G>T	chr1.hg19:g.75688057C>A	ENSP00000359892:p.Lys358Asn	1					SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	p.K358N	NM_152697.4	NP_689910.2	0	1	1	1.827221	Q8NCS7	CTL5_HUMAN		14	1187	-			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	1	1	hg19	c.1074G>T	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319973	0.60634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27557	1.66;1.66;1.66	5.06	4.14	0.48551	5.06	4.14	0.48551	.	0.189164	0.56097	D	0.000037	T	0.41003	0.1140	M	0.85462	2.755	0.58432	D	0.99999	P;P;P;B;P	0.51351	0.767;0.944;0.767;0.338;0.883	P;P;P;B;P	0.56865	0.562;0.808;0.562;0.328;0.565	T	0.48151	-0.9060	10	0.66056	D	0.02	-5.5689	9.8266	0.40916	0.0:0.7842:0.1415:0.0743	.	352;397;358;358;397	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	358;397;358;228;351	ENSP00000359896:K358N;ENSP00000359892:K358N;ENSP00000443090:K228N	ENSP00000359892:K358N	K	-	3	2	2	SLC44A5	75460645	75460645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.368000	0.34216	1.444000	0.47605	0.655000	0.94253	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-2.808695	1	0.170000	NM_152697			27	27		183	179	1		1	0		0	0	49	0		1	3.866387e-01	0	0	0	10	0	27	183
SLC44A5	204962	broad.mit.edu	37	1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	208					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)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378																																						ENST00000370855.5	1.000000	0.890000	1	9.400000e-01	0.970000	0.973473	0.970000	0.990000																										0				61						c.(622-624)aCa>aTa		solute carrier family 44, member 5							188.0	161.0	170.0					1																	75704231		2203	4300	6503	SO:0001583	missense	204962	0	0					g.chr1:75704231G>A	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.623C>T	chr1.hg19:g.75704231G>A	ENSP00000359892:p.Thr208Ile	1					SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	p.T208I	NM_152697.4	NP_689910.2	0	1	1	1.827221	Q8NCS7	CTL5_HUMAN		10	736	-			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	1	1	hg19	c.623C>T	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435159	0.12045	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.87;2.86;2.48	4.9	-1.86	0.07760	4.9	-1.86	0.07760	.	1.053510	0.07321	N	0.877559	T	0.02848	0.0085	L	0.39085	1.19	0.09310	N	1	B;B;B;B;B	0.16603	0.001;0.01;0.004;0.007;0.018	B;B;B;B;B	0.17979	0.003;0.005;0.003;0.02;0.012	T	0.46555	-0.9183	10	0.33141	T	0.24	0.6744	4.3939	0.11353	0.3631:0.0:0.3885:0.2484	.	202;247;208;208;247	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	208;247;208;78;201	ENSP00000359896:T208I;ENSP00000359892:T208I;ENSP00000443090:T78I	ENSP00000359892:T208I	T	-	2	0	0	SLC44A5	75476819	75476819	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.285000	0.08410	-0.293000	0.08986	-0.218000	0.12543	ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_152697			54	54		237	228	1		1	0		0	0	61	0		1	0	0	1	0	0	0	54	237
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039). {ECO:0000305}.	ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602								Mismatch excision repair (MMR)																														ENST00000263187.3	0.950000	0.440000	8.500000e-01	5.600000e-01	0.690000	0.707374	0.690000	0.700000																										0				47						c.(58-60)tCg>tTg	Mismatch excision repair (MMR)	mutS homolog 4							35.0	36.0	35.0					1																	76262729		2203	4300	6503	SO:0001583	missense	4438	0	0					g.chr1:76262729C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.59C>T	chr1.hg19:g.76262729C>T	ENSP00000263187:p.Ser20Leu	1						p.S20L	NM_002440.3	NP_002431.2	0	1	1	1.827221	O15457	MSH4_HUMAN		1	163	+			Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	1	1	hg19	c.59C>T	CCDS670.1	0	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293483	0.23564	.	.	ENSG00000057468	ENST00000263187	D	0.90261	-2.64	3.47	-0.0349	0.13894	3.47	-0.0349	0.13894	.	5.525940	0.00481	N	0.000125	T	0.60157	0.2247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60796	-0.7192	10	0.15499	T	0.54	-0.5266	4.8	0.13292	0.0:0.5245:0.2406:0.2349	.	20	O15457	MSH4_HUMAN	L	20	ENSP00000263187:S20L	ENSP00000263187:S20L	S	+	2	0	0	MSH4	76035317	76035317	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.061000	0.14366	-0.003000	0.14444	0.462000	0.41574	TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-19.998960	1	0.170000	NM_002440			19	19		266	262	0		1			0	0	64	0		9.999906e-01	0	0	0	0	0	0	19	266
MSH4	4438	broad.mit.edu	37	1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	505					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363								Mismatch excision repair (MMR)																														ENST00000263187.3	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.937323	0.940000	0.990000																										0				47						c.(1513-1515)tAc>tGc	Mismatch excision repair (MMR)	mutS homolog 4							117.0	113.0	114.0					1																	76343977		2203	4300	6503	SO:0001583	missense	4438	0	0					g.chr1:76343977A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1514A>G	chr1.hg19:g.76343977A>G	ENSP00000263187:p.Tyr505Cys	1						p.Y505C	NM_002440.3	NP_002431.2	0	1	1	1.827221	O15457	MSH4_HUMAN		11	1618	+			Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	1	1	hg19	c.1514A>G	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135364	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.89810	-2.57	5.49	5.49	0.81192	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.123368	0.56097	D	0.000025	D	0.94515	0.8234	M	0.88310	2.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95277	0.8382	10	0.62326	D	0.03	-2.2644	15.5975	0.76599	1.0:0.0:0.0:0.0	.	505	O15457	MSH4_HUMAN	C	505	ENSP00000263187:Y505C	ENSP00000263187:Y505C	Y	+	2	0	0	MSH4	76116565	76116565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.082000	0.62665	0.528000	0.53228	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-16.075150	1	0.170000	NM_002440			36	36		249	248	1		1			0	0	56	0		1	0	0	0	0	0	0	36	249
ST6GALNAC3	256435	broad.mit.edu	37	1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	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	56					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443																																						ENST00000328299.3	0.980000	0.550000	9.200000e-01	6.700000e-01	0.790000	0.795144	0.790000	0.810000																										0				36						c.(166-168)cGg>cAg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							139.0	125.0	130.0					1																	76779638		2203	4300	6503	SO:0001583	missense	256435	7	121404	39				g.chr1:76779638G>A		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.167G>A	chr1.hg19:g.76779638G>A	ENSP00000329214:p.Arg56Gln	1					ST6GALNAC3_ENST00000464140.1_3'UTR	p.R56Q	NM_152996.2	NP_694541.2	0	1	1	1.827221	Q8NDV1	SIA7C_HUMAN		2	315	+			Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	1	1	hg19	c.167G>A	CCDS672.1	0	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385694	0.25031	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	2.17	0.27698	5.12	2.17	0.27698	.	0.456464	0.24298	N	0.039741	T	0.03136	0.0092	N	0.03115	-0.41	0.22521	N	0.99902	B;B	0.24368	0.102;0.009	B;B	0.17722	0.019;0.002	T	0.45512	-0.9256	10	0.13108	T	0.6	-44.1687	7.3081	0.26459	0.3809:0.0:0.6191:0.0	.	56;56	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	56;56;55	ENSP00000329214:R56Q	ENSP00000329214:R56Q	R	+	2	0	0	ST6GALNAC3	76552226	76552226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.749000	0.38319	0.523000	0.28482	0.491000	0.48974	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.841673	1	0.170000	NM_152996			28	27		335	324	0		1	0		0	0	66	0		1	1.872480e-01	0	0	0	10	0	28	335
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383																																						ENST00000370801.3	1.000000	0.740000	9.900000e-01	8.600000e-01	0.940000	0.928345	0.940000	0.990000																										0				39						c.(2503-2505)Cgg>Tgg		zinc finger, ZZ-type containing 3							60.0	58.0	59.0					1																	78031830		2203	4300	6503	SO:0001583	missense	26009	2	121412	15				g.chr1:78031830G>A	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.2503C>T	chr1.hg19:g.78031830G>A	ENSP00000359837:p.Arg835Trp	1					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	p.R835W	NM_015534.4	NP_056349.1	0	1	1	1.827221	Q8IYH5	ZZZ3_HUMAN		14	2978	-			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	1	1	hg19	c.2503C>T	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96554	-4.05;-4.05	5.23	4.3	0.51218	5.23	4.3	0.51218	Zinc finger, ZZ-type (4);	0.000000	0.64402	D	0.000001	D	0.98182	0.9399	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;D;D	0.65987	0.809;0.94;0.917	D	0.99167	1.0863	10	0.87932	D	0	.	16.0294	0.80567	0.0:0.1346:0.8654:0.0	.	341;835;834	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	W	835;341	ENSP00000359837:R835W;ENSP00000359834:R341W	ENSP00000359834:R341W	R	-	1	2	2	ZZZ3	77804418	77804418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.698000	0.84413	1.301000	0.44836	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-3.462224	1	0.170000	NM_015534			18	17		73	72	1		1	1		0	0	26	0		9.999892e-01	9.999497e-01	0	16	0	59	0	18	73
ZZZ3	26009	broad.mit.edu	37	1	78034018	78034018	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000370798.1_Splice_Site_p.K328T|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	822					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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343																																						ENST00000370801.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.985910	0.980000	0.990000																										0				39						c.(2464-2466)aAg>aCg		zinc finger, ZZ-type containing 3							77.0	81.0	80.0					1																	78034018		2203	4299	6502	SO:0001630	splice_region_variant	26009	0	0					g.chr1:78034018T>G	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.2466+1A>C	chr1.hg19:g.78034018T>G		1					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site_p.K328T	p.K822T	NM_015534.4	NP_056349.1	0	1	1	1.827221	Q8IYH5	ZZZ3_HUMAN		13	2940	-			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Splice_Site	SNP	ENST00000370801.3	1	0	hg19	c.2465A>C	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552257	0.86127	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91407	-2.84;-2.84	5.46	5.46	0.80206	5.46	5.46	0.80206	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	L	0.28740	0.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.90468	0.4451	10	0.38643	T	0.18	.	15.8471	0.78901	0.0:0.0:0.0:1.0	.	328;822;821	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	T	822;328	ENSP00000359837:K822T;ENSP00000359834:K328T	ENSP00000359834:K328T	K	-	2	0	0	ZZZ3	77806606	77806606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.208000	0.71279	0.528000	0.53228	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_015534	Missense_Mutation		83	77		291	284	1		1	1		0	0	65	0		1	9.999911e-01	0	12	0	50	0	83	291
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373																																						ENST00000370801.3	0.960000	0.570000	8.800000e-01	6.600000e-01	0.770000	0.776555	0.770000	0.770000																										0				39						c.(1966-1968)aCt>aAt		zinc finger, ZZ-type containing 3							171.0	165.0	167.0					1																	78046696		2203	4300	6503	SO:0001583	missense	26009	0	0					g.chr1:78046696G>T	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.1967C>A	chr1.hg19:g.78046696G>T	ENSP00000359837:p.Thr656Asn	1					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N	p.T656N	NM_015534.4	NP_056349.1	0	1	1	1.827221	Q8IYH5	ZZZ3_HUMAN		9	2442	-			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	1	1	hg19	c.1967C>A	CCDS677.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250996	0.80135	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	T	0.80864	0.4705	M	0.93106	3.38	0.80722	D	1	B;D;P	0.71674	0.447;0.998;0.934	B;D;P	0.69479	0.147;0.964;0.603	D	0.84252	0.0478	10	0.72032	D	0.01	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	656;162	ENSP00000359837:T656N;ENSP00000359834:T162N	ENSP00000359834:T162N	T	-	2	0	0	ZZZ3	77819284	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	0	0	1		16	4	2	1		1	1	122		122	122	1	2.060000	-10.061030	1	0.170000	NM_015534			42	42		534	523	0		1	1		1	0	122	0		9.998531e-01	7.758395e-01	0	8	0	64	0	42	534
ZZZ3	26009	broad.mit.edu	37	1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	501					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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348																																						ENST00000370801.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.978779	0.980000	0.990000																										0				39						c.(1501-1503)aaA>aaC		zinc finger, ZZ-type containing 3							91.0	87.0	88.0					1																	78097537		2203	4300	6503	SO:0001583	missense	26009	0	0					g.chr1:78097537T>G	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.1503A>C	chr1.hg19:g.78097537T>G	ENSP00000359837:p.Lys501Asn	1					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	p.K501N	NM_015534.4	NP_056349.1	0	1	1	1.827221	Q8IYH5	ZZZ3_HUMAN		5	1978	-			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	1	1	hg19	c.1503A>C	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404934	0.42613	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.74023	0.982;0.82;0.913	T	0.72868	-0.4162	9	0.56958	D	0.05	.	15.755	0.78015	0.0:0.0:0.0:1.0	.	501;501;501	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	501	.	ENSP00000359837:K501N	K	-	3	2	2	ZZZ3	77870125	77870125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.266000	0.75297	0.533000	0.62120	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015534			59	56		215	211	1		1	1		0	0	77	0		1	9.995513e-01	0	8	0	37	0	59	215
USP33	23032	broad.mit.edu	37	1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000357428.1_Missense_Mutation_p.A845S|USP33_ENST00000370794.3_Missense_Mutation_p.A814S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	845	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1	0.990000	0.640000	9.400000e-01	7.400000e-01	0.840000	0.844932	0.840000	0.870000																										0				44						c.(2533-2535)Gct>Tct		ubiquitin specific peptidase 33							115.0	125.0	122.0					1																	78167123		2203	4300	6503	SO:0001583	missense	23032	0	0					g.chr1:78167123C>A	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.2533G>T	chr1.hg19:g.78167123C>A	ENSP00000359829:p.Ala845Ser	1					USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	p.A845S	NM_015017.4	NP_055832.3	0	1	1	1.827221	Q8TEY7	UBP33_HUMAN		23	2879	-			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	1	1	hg19	c.2533G>T	CCDS678.1	0	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224830	0.22457	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09163	3.02;3.01;3.01	4.94	0.829	0.18847	4.94	0.829	0.18847	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.401148	0.26324	N	0.025032	T	0.00906	0.0030	N	0.03608	-0.345	0.38218	D	0.940662	B	0.14012	0.009	B	0.21360	0.034	T	0.45906	-0.9229	10	0.05351	T	0.99	.	5.2312	0.15422	0.2897:0.4901:0.0:0.2202	.	845	Q8TEY7	UBP33_HUMAN	S	814;845;845	ENSP00000359830:A814S;ENSP00000359829:A845S;ENSP00000350009:A845S	ENSP00000350009:A845S	A	-	1	0	0	USP33	77939711	77939711	0.983000	0.35010	0.995000	0.50966	0.987000	0.75469	1.599000	0.36751	-0.028000	0.13850	0.484000	0.47621	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-12.128940	1	0.170000	NM_015017			46	47		515	505	1		1	1		0	0	104	0		1	9.995390e-01	0	28	0	100	0	46	515
USP33	23032	broad.mit.edu	37	1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	165					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)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1	1.000000	0.910000	1	9.500000e-01	0.980000	0.980901	0.980000	0.990000																										0				44						c.(493-495)Gta>Ata		ubiquitin specific peptidase 33							123.0	120.0	121.0					1																	78201795		2203	4300	6503	SO:0001583	missense	23032	0	0					g.chr1:78201795C>T	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.493G>A	chr1.hg19:g.78201795C>T	ENSP00000359829:p.Val165Ile	1					USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	p.V165I	NM_015017.4	NP_055832.3	0	1	1	1.827221	Q8TEY7	UBP33_HUMAN		7	839	-			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	1	1	hg19	c.493G>A	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244701	0.59103	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30714	2.91;2.91;2.91;2.9;1.52	5.17	5.17	0.71159	5.17	5.17	0.71159	.	1.261780	0.05306	N	0.523893	T	0.16811	0.0404	L	0.55481	1.735	0.30780	N	0.742131	B;P	0.51351	0.121;0.944	B;B	0.36092	0.044;0.217	T	0.06991	-1.0796	10	0.38643	T	0.18	.	13.3687	0.60701	0.0:0.9237:0.0:0.0763	.	165;165	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	I	134;165;165;165;165	ENSP00000359830:V134I;ENSP00000359829:V165I;ENSP00000350009:V165I;ENSP00000359828:V165I;ENSP00000434441:V165I	ENSP00000350009:V165I	V	-	1	0	0	USP33	77974383	77974383	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.178000	0.58284	2.589000	0.87451	0.491000	0.48974	GTA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_015017			70	68		288	286	1		1	1		0	0	62	0		1	1	0	30	0	76	0	70	288
NEXN	91624	broad.mit.edu	37	1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											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)		TCTAAACCTGTCCCAAAAACC	0.338																																						ENST00000334785.7	1.000000	0.890000	1	9.400000e-01	0.970000	0.974850	0.970000	0.990000																										0				30						c.(52-54)gTc>gCc		nexilin (F actin binding protein)							69.0	62.0	64.0					1																	78383276		1818	4083	5901	SO:0001583	missense	91624	1	120800	31				g.chr1:78383276T>C	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.53T>C	chr1.hg19:g.78383276T>C	ENSP00000333938:p.Val18Ala	1					NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	p.V18A	NM_144573.3	NP_653174.3	0	1	1	1.827221				3	237	+				Missense_Mutation	SNP	ENST00000334785.7	1	1	hg19	c.53T>C	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577398	0.65878	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.72505	-0.25;-0.66;-0.25;-0.55	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.620166	0.13881	N	0.356346	T	0.56366	0.1980	L	0.54323	1.7	0.34155	D	0.668015	B	0.28971	0.229	B	0.25405	0.06	T	0.63686	-0.6581	10	0.87932	D	0	-0.3105	15.9178	0.79535	0.0:0.0:0.0:1.0	.	18	Q0ZGT2	NEXN_HUMAN	A	18	ENSP00000388048:V18A;ENSP00000294624:V18A;ENSP00000333938:V18A;ENSP00000411902:V18A	ENSP00000294624:V18A	V	+	2	0	0	NEXN	78155864	78155864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.216000	0.71823	0.533000	0.62120	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_144573			47	47		149	144	1		1	0		0	0	44	0		1	9.016500e-01	0	0	0	15	0	47	149
NEXN	91624	broad.mit.edu	37	1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000334785.7	+	8	1020	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_ENST00000330010.8_Missense_Mutation_p.R215H|NEXN_ENST00000457030.1_Missense_Mutation_p.R265H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											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)		GAAGAGAAGCGTGCTTTTGAA	0.348																																						ENST00000334785.7	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.947165	0.950000	0.990000																										0				30						c.(835-837)cGt>cAt		nexilin (F actin binding protein)							86.0	84.0	85.0					1																	78392549		1848	4103	5951	SO:0001583	missense	91624	2	120792	35				g.chr1:78392549G>A	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.836G>A	chr1.hg19:g.78392549G>A	ENSP00000333938:p.Arg279His	1					NEXN_ENST00000457030.1_Missense_Mutation_p.R265H|NEXN_ENST00000330010.8_Missense_Mutation_p.R215H	p.R279H	NM_144573.3	NP_653174.3	0	1	1	1.827221				8	1020	+				Missense_Mutation	SNP	ENST00000334785.7	1	1	hg19	c.836G>A	CCDS41351.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042667|3.042667	0.55003|0.55003	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.68765|.	-0.31;-0.01;-0.11;-0.04;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.50627|.	D|.	0.000105|.	T|T	0.74076|0.74076	0.3669|0.3669	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.68621|.	0.911;0.959;0.947;0.911|.	T|T	0.73341|0.73341	-0.4013|-0.4013	10|5	0.52906|.	T|.	0.07|.	-7.3584|-7.3584	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;265;279;215|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	H|M	215;265;215;279;265|179	ENSP00000383814:R215H;ENSP00000388048:R265H;ENSP00000327363:R215H;ENSP00000333938:R279H;ENSP00000411902:R265H|.	ENSP00000327363:R215H|.	R|V	+|+	2|1	0|0	0|0	NEXN|NEXN	78165137|78165137	78165137|78165137	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.491000|0.491000	0.33493|0.33493	4.816000|4.816000	0.62642|0.62642	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGT|GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-19.139480	1	0.170000	NM_144573			49	47		357	356	1		1	0		0	0	65	0		1	9.999931e-01	0	1	0	127	0	49	357
GIPC2	54810	broad.mit.edu	37	1	78546358	78546358	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318																																						ENST00000370759.3	0.990000	0.600000	9.400000e-01	7.100000e-01	0.820000	0.825126	0.820000	0.850000																										0				20						c.e2-1		GIPC PDZ domain containing family, member 2							101.0	104.0	103.0					1																	78546358		2203	4300	6503	SO:0001630	splice_region_variant	54810	0	0					g.chr1:78546358G>A	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.241-1G>A	chr1.hg19:g.78546358G>A		1					GIPC2_ENST00000476882.1_Splice_Site		NM_017655.4	NP_060125.4	0	1	1	1.827221	Q8TF65	GIPC2_HUMAN		2	433	+			Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	1	1	hg19		CCDS685.1	0	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322948	0.81580	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.02	5.1	0.69264	6.02	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7102	0.69225	0.0687:0.0:0.9313:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GIPC2	78318946	78318946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-10.227460	1	0.170000	NM_017655	Intron		34	34		387	385	0		1			0	0	89	0		1	0	0	0	0	0	0	34	387
GIPC2	54810	broad.mit.edu	37	1	78585184	78585184	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	ENST00000370759.3	+	4	907		c.e4+1			NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGAAGAAATGGTATGTTATGT	0.398																																						ENST00000370759.3	1.000000	0.570000	9.600000e-01	7.200000e-01	0.860000	0.849571	0.860000	0.990000																										0				20						c.e4+1		GIPC PDZ domain containing family, member 2							136.0	132.0	133.0					1																	78585184		2203	4300	6503	SO:0001630	splice_region_variant	54810	0	0					g.chr1:78585184G>A	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.714+1G>A	chr1.hg19:g.78585184G>A		1							NM_017655.4	NP_060125.4	0	1	1	1.827221	Q8TF65	GIPC2_HUMAN		4	907	+			Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	0	1	hg19		CCDS685.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645851	0.29246	.	.	ENSG00000137960	ENST00000370759	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.954	0.71098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GIPC2	78357772	78357772	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	5.978000	0.70501	2.678000	0.91216	0.655000	0.94253	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-19.988560	1	0.170000	NM_017655	Intron		14	14		117	116	0		1			0	0	39	0		9.997997e-01	0	0	0	0	0	0	14	117
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358																																						ENST00000370757.3	0.990000	0.600000	9.300000e-01	7.000000e-01	0.820000	0.821992	0.820000	0.840000																										0				33						c.(838-840)Ctg>Atg		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)						103.0	109.0	107.0					1																	79002130		2203	4300	6503	SO:0001583	missense	5737	0	0					g.chr1:79002130C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.838C>A	chr1.hg19:g.79002130C>A	ENSP00000359793:p.Leu280Met	1					PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M|PTGFR_ENST00000370756.3_3'UTR	p.L280M	NM_000959.3	NP_000950.1	0	1	1	1.827221	P43088	PF2R_HUMAN		3	1075	+			A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	1	1	hg19	c.838C>A	CCDS686.1	0	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663819	0.14710	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.73152	-0.72;-0.72	5.66	-0.169	0.13339	5.66	-0.169	0.13339	GPCR, rhodopsin-like superfamily (1);	1.923520	0.02399	N	0.080461	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37508	0.252	T	0.26503	-1.0101	10	0.46703	T	0.11	5.3371	4.3889	0.11330	0.4355:0.356:0.0867:0.1217	.	280	P43088	PF2R_HUMAN	M	280	ENSP00000359794:L280M;ENSP00000359793:L280M	ENSP00000359793:L280M	L	+	1	2	2	PTGFR	78774718	78774718	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	-0.129000	0.10515	0.057000	0.16193	0.655000	0.94253	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-2.806910	1	0.170000	NM_000959			36	36		415	400	0		1			0	0	112	0		1	0	0	0	0	0	0	36	415
IFI44L	10964	broad.mit.edu	37	1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	169					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299																																						ENST00000370751.5	0.990000	0.510000	9.300000e-01	6.500000e-01	0.790000	0.792037	0.790000	0.840000																										0				22						c.(505-507)aaG>aaT		interferon-induced protein 44-like							85.0	88.0	87.0					1																	79094664		2203	4300	6503	SO:0001583	missense	10964	0	0					g.chr1:79094664G>T	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.507G>T	chr1.hg19:g.79094664G>T	ENSP00000359787:p.Lys169Asn	1					IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	p.K169N	NM_006820.2	NP_006811.2	0	1	1	1.827221	Q53G44	IF44L_HUMAN		3	686	+			Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	1	1	hg19	c.507G>T	CCDS687.2	0	.	.	.	.	.	.	.	.	.	.	G	3.842	-0.033663	0.07543	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.15256	3.04;2.44	2.88	-1.53	0.08611	2.88	-1.53	0.08611	.	0.483713	0.17055	N	0.188776	T	0.03095	0.0091	N	0.25647	0.755	0.19300	N	0.99998	B	0.14805	0.011	B	0.15484	0.013	T	0.40887	-0.9539	10	0.39692	T	0.17	5.2127	6.8939	0.24245	0.1307:0.4212:0.4482:0.0	.	169	Q53G44	IF44L_HUMAN	N	169;146	ENSP00000359787:K169N;ENSP00000400784:K146N	ENSP00000359787:K169N	K	+	3	2	2	IFI44L	78867252	78867252	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.340000	0.07821	-0.322000	0.08615	-0.480000	0.04831	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.299	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.017746	1	0.170000	NM_006820			18	18		205	203	1		1	1		0	0	77	0		9.999842e-01	9.999701e-01	0	13	0	193	0	18	205
IFI44L	10964	broad.mit.edu	37	1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|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)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368																																						ENST00000370751.5	1.000000	0.950000	1	9.700000e-01	0.980000	0.990764	0.980000	0.990000																										0				22						c.(964-966)gTc>gAc		interferon-induced protein 44-like							160.0	162.0	161.0					1																	79102805		2203	4300	6503	SO:0001583	missense	10964	0	0					g.chr1:79102805T>A	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.965T>A	chr1.hg19:g.79102805T>A	ENSP00000359787:p.Val322Asp	1					IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	p.V322D	NM_006820.2	NP_006811.2	0	1	1	1.827221	Q53G44	IF44L_HUMAN		6	1144	+			Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	1	1	hg19	c.965T>A	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808279	0.70797	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.56444	2.27;0.46	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000007	T	0.66674	0.2813	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73244	-0.4044	10	0.87932	D	0	-11.108	11.2061	0.48771	0.0:0.0:0.0:1.0	.	322	Q53G44	IF44L_HUMAN	D	322;64	ENSP00000359787:V322D;ENSP00000342833:V64D	ENSP00000342833:V64D	V	+	2	0	0	IFI44L	78875393	78875393	0.998000	0.40836	0.417000	0.26559	0.861000	0.49209	3.583000	0.53928	1.790000	0.52503	0.377000	0.23210	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_006820			114	111		375	366	1		1	1		0	0	100	0		1	1	0	148	0	245	0	114	375
ELTD1	64123	broad.mit.edu	37	1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	676					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)			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)		AACAATCTGTAATATTCTTCT	0.264																																						ENST00000370742.3	1.000000	0.750000	9.900000e-01	8.600000e-01	0.940000	0.929422	0.940000	0.990000																										0				69						c.(2026-2028)Tac>Cac		EGF, latrophilin and seven transmembrane domain containing 1							77.0	69.0	71.0					1																	79356886		1784	4048	5832	SO:0001583	missense	64123	0	0					g.chr1:79356886A>G	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.2026T>C	chr1.hg19:g.79356886A>G	ENSP00000359778:p.Tyr676His	1						p.Y676H	NM_022159.3	NP_071442.2	0	1	1	1.827221	Q9HBW9	ELTD1_HUMAN		15	2089	-			B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	1	1	hg19	c.2026T>C	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971281	0.34754	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.36672	1.1	0.45852	D	0.998713	B	0.20164	0.042	B	0.26094	0.066	T	0.08472	-1.0720	9	.	.	.	.	9.2697	0.37664	0.919:0.0:0.081:0.0	.	676	Q9HBW9	ELTD1_HUMAN	H	676;134	ENSP00000359778:Y676H;ENSP00000383813:Y134H	.	Y	-	1	0	0	ELTD1	79129474	79129474	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	3.996000	0.57009	2.035000	0.60131	0.533000	0.62120	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.264	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_022159			25	25		148	146	1		1	0		0	0	38	0		9.999999e-01	9.939687e-01	0	0	0	51	0	25	148
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					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)			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)		CACAGAATTTCTATAGACTTC	0.318																																						ENST00000370742.3	1.000000	0.670000	9.800000e-01	8.000000e-01	0.910000	0.894551	0.910000	0.990000																										0				69						c.(442-444)aGa>aAa		EGF, latrophilin and seven transmembrane domain containing 1							60.0	55.0	57.0					1																	79403918		1798	4059	5857	SO:0001583	missense	64123	0	0					g.chr1:79403918C>T	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.443G>A	chr1.hg19:g.79403918C>T	ENSP00000359778:p.Arg148Lys	1						p.R148K	NM_022159.3	NP_071442.2	0	1	1	1.827221	Q9HBW9	ELTD1_HUMAN		5	506	-			B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	1	1	hg19	c.443G>A	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	7.090	0.571971	0.13623	.	.	ENSG00000162618	ENST00000370742	T	0.09163	3.01	5.86	0.105	0.14535	5.86	0.105	0.14535	Domain of unknown function DUF3497 (1);	0.462533	0.27831	N	0.017662	T	0.02193	0.0068	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46233	-0.9206	9	.	.	.	.	11.061	0.47946	0.0:0.5536:0.0:0.4464	.	148	Q9HBW9	ELTD1_HUMAN	K	148	ENSP00000359778:R148K	.	R	-	2	0	0	ELTD1	79176506	79176506	0.007000	0.16637	0.956000	0.39512	0.962000	0.63368	-0.065000	0.11617	0.102000	0.17638	0.650000	0.86243	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_022159			20	20		148	141	1		1	0		0	0	34	0		9.999951e-01	9.974033e-01	0	0	0	74	0	20	148
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N			O95490	LPHN2_HUMAN	latrophilin 2	265	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.D265H(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)		GACTGATATCGACCTAGCAGT	0.408																																						ENST00000370728.1	1.000000	0.940000	1	9.600000e-01	0.980000	0.987826	0.980000	0.990000																										2	Substitution - Missense(2)	p.D265H(2)	lung(2)	119						c.(793-795)Gac>Aac		latrophilin 2							142.0	135.0	137.0					1																	82409048		2203	4300	6503	SO:0001583	missense	23266	0	0					g.chr1:82409048G>A	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.793G>A	chr1.hg19:g.82409048G>A	ENSP00000359763:p.Asp265Asn	1					LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N	p.D265N			0	1	1	1.827221	O95490	LPHN2_HUMAN		8	1438	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	1	1	hg19	c.793G>A		1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	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	0.94280	-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	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	0	LPHN2	82181636	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_012302			99	98		380	378	1		1	1		0	0	101	0		1	1	0	40	0	83	0	99	380
LPHN2	23266	broad.mit.edu	37	1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N			O95490	LPHN2_HUMAN	latrophilin 2	517					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)			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)		TAAGGGCCCCGATCTTAGCAA	0.423																																						ENST00000370728.1	1.000000	0.690000	9.800000e-01	8.000000e-01	0.900000	0.894483	0.900000	0.990000																										0				119						c.(1549-1551)Gat>Aat		latrophilin 2							119.0	114.0	116.0					1																	82416758		2203	4300	6503	SO:0001583	missense	23266	3	121412	35				g.chr1:82416758G>A	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.1549G>A	chr1.hg19:g.82416758G>A	ENSP00000359763:p.Asp517Asn	1					LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N	p.D517N			0	1	1	1.827221	O95490	LPHN2_HUMAN		10	2194	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	1	1	hg19	c.1549G>A		1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773127	0.90108	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.978;0.988	T	0.64257	-0.6450	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	517;517;517	O95490-3;O95490-4;O95490-2	.;.;.	N	455;517;517;517;517;517;517;517;517;517;517;517;517;517	ENSP00000359756:D455N;ENSP00000359763:D517N;ENSP00000359765:D517N;ENSP00000359762:D517N;ENSP00000359760:D517N;ENSP00000359758:D517N;ENSP00000353006:D517N;ENSP00000359750:D517N;ENSP00000359748:D517N;ENSP00000322270:D517N;ENSP00000359752:D517N;ENSP00000378344:D517N;ENSP00000271029:D517N;ENSP00000337306:D517N	ENSP00000271029:D517N	D	+	1	0	0	LPHN2	82189346	82189346	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.221884	1	0.170000	NM_012302			37	37		346	345	1		1	1		0	0	89	0		1	9.999300e-01	0	18	0	118	0	37	346
LPHN2	23266	broad.mit.edu	37	1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P			O95490	LPHN2_HUMAN	latrophilin 2	898					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.L898P(1)|p.L885P(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)		TTTATTTTCCTAATAGGCATT	0.368																																						ENST00000370728.1	1.000000	0.750000	9.800000e-01	8.400000e-01	0.920000	0.918394	0.920000	0.990000																										2	Substitution - Missense(2)	p.L898P(1)|p.L885P(1)	kidney(2)	119						c.(2692-2694)cTa>cCa		latrophilin 2		T	PRO/LEU	0,4406		0,0,2203	129.0	126.0	127.0		2654	5.1	1.0	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	885/1404	82435043	1,13005	2203	4300	6503	SO:0001583	missense	23266	3	121410	37				g.chr1:82435043T>C	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.2693T>C	chr1.hg19:g.82435043T>C	ENSP00000359763:p.Leu898Pro	1					LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P	p.L898P			0	1	1	1.827221	O95490	LPHN2_HUMAN		17	3338	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	1	1	hg19	c.2693T>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328568|4.328568	0.81690|0.81690	0.0|0.0	1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|.	0.86585|.	0.5968|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.994;0.998|.	D|.	0.91704|.	0.5376|.	10|.	0.87932|.	D|.	0|.	.|.	14.8239|14.8239	0.70094|0.70094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	885;885;885|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	P|Q	823;898;898;898;898;885;885;885;885;885;898;885;898;898|766	ENSP00000359756:L823P;ENSP00000359763:L898P;ENSP00000359765:L898P;ENSP00000359762:L898P;ENSP00000359760:L898P;ENSP00000359758:L885P;ENSP00000353006:L885P;ENSP00000359750:L885P;ENSP00000359748:L885P;ENSP00000322270:L885P;ENSP00000359752:L898P;ENSP00000378344:L885P;ENSP00000271029:L898P;ENSP00000337306:L898P|.	ENSP00000271029:L898P|.	L|X	+|+	2|1	0|0	0|0	LPHN2|LPHN2	82207631|82207631	82207631|82207631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.904000|1.904000	0.55121|0.55121	0.477000|0.477000	0.44152|0.44152	CTA|TAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_012302			45	45		395	390	1		1	1		0	0	80	0		1	9.999795e-01	0	17	0	124	0	45	395
LPHN2	23266	broad.mit.edu	37	1	82450958	82450958	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82450958A>G	ENST00000370728.1	+	23	4060	c.3415A>G	c.(3415-3417)Atg>Gtg	p.M1139V	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V			O95490	LPHN2_HUMAN	latrophilin 2	1139					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)			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)		TATAAGAAGAATGTGGAATGA	0.318																																						ENST00000370728.1	0.470000	0.100000	3.600000e-01	1.600000e-01	0.250000	0.268949	0.250000	0.230000																										0				119						c.(3415-3417)Atg>Gtg		latrophilin 2							90.0	93.0	92.0					1																	82450958		2203	4296	6499	SO:0001583	missense	23266	0	0					g.chr1:82450958A>G	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.3415A>G	chr1.hg19:g.82450958A>G	ENSP00000359763:p.Met1139Val	1					LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V	p.M1139V			0	1	1	1.827221	O95490	LPHN2_HUMAN		23	4060	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	0	1	hg19	c.3415A>G		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.025844|4.025844	0.75390|0.75390	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71579|.	-0.54;-0.58;-0.48;-0.42;-0.52;-0.47;-0.44;-0.4;-0.44;-0.52;-0.47;-0.42;-0.48|.	5.05|5.05	5.05|5.05	0.67936|0.67936	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.087808|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.993;0.999|.	D;D|.	0.81914|.	0.981;0.995|.	T|T	0.69914|0.69914	-0.5016|-0.5016	10|5	0.44086|.	T|.	0.13|.	.|.	15.0867|15.0867	0.72158|0.72158	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1126;1126|.	O95490-4;O95490-2|.	.;.|.	V|S	1064;1139;1139;1154;1154;1141;1126;1126;1126;1154;1141;1154;1139|144	ENSP00000359756:M1064V;ENSP00000359763:M1139V;ENSP00000359765:M1139V;ENSP00000359762:M1154V;ENSP00000359760:M1154V;ENSP00000359758:M1141V;ENSP00000353006:M1126V;ENSP00000359750:M1126V;ENSP00000322270:M1126V;ENSP00000359752:M1154V;ENSP00000378344:M1141V;ENSP00000271029:M1154V;ENSP00000337306:M1139V|.	ENSP00000271029:M1154V|.	M|N	+|+	1|2	0|0	0|0	LPHN2|LPHN2	82223546|82223546	82223546|82223546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.287000|9.287000	0.95975|0.95975	2.033000|2.033000	0.60031|0.60031	0.397000|0.397000	0.26171|0.26171	ATG|AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-7.374901	1	0.170000	NM_012302			6	6		262	259	0		1	1		0	0	58	0		9.642253e-01	8.338371e-01	0	10	0	135	0	6	262
LPHN2	23266	broad.mit.edu	37	1	82452608	82452608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82452608A>G	ENST00000370728.1	+	24	4165	c.3520A>G	c.(3520-3522)Aca>Gca	p.T1174A	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370730.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1174					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)			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)		TTACCTACTAACAAACCCTCT	0.373																																						ENST00000370728.1	1.000000	0.660000	9.700000e-01	7.700000e-01	0.890000	0.878413	0.890000	0.990000																										0				119						c.(3520-3522)Aca>Gca		latrophilin 2							101.0	99.0	100.0					1																	82452608		876	1991	2867	SO:0001583	missense	23266	0	0					g.chr1:82452608A>G	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.3520A>G	chr1.hg19:g.82452608A>G	ENSP00000359763:p.Thr1174Ala	1					LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370730.1_Intron	p.T1174A			0	1	1	1.827221	O95490	LPHN2_HUMAN		24	4165	+			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	1	1	hg19	c.3520A>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604319|2.604319	0.46423|0.46423	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370725;ENST00000370723;ENST00000370717;ENST00000394879	.|T;T;T;T;T;T	.|0.71698	.|-0.58;-0.59;-0.56;-0.52;-0.56;-0.52	5.67|5.67	5.67|5.67	0.87782|0.87782	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77260|0.77260	0.4104|0.4104	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.80327|0.80327	-0.1429|-0.1429	4|7	.|0.62326	.|D	.|0.03	.|.	15.9173|15.9173	0.79531|0.79531	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	S|A	179|1099;1174;1189;1176;1189;1176	.|ENSP00000359756:T1099A;ENSP00000359763:T1174A;ENSP00000359760:T1189A;ENSP00000359758:T1176A;ENSP00000359752:T1189A;ENSP00000378344:T1176A	.|ENSP00000359752:T1189A	N|T	+|+	2|1	0|0	0|0	LPHN2|LPHN2	82225196|82225196	82225196|82225196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	AAC|ACA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_012302			30	30		285	272	1		1	1		0	0	73	0		1	9.253192e-01	0	27	0	17	0	30	285
TTLL7	79739	broad.mit.edu	37	1	84372050	84372050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84372050C>A	ENST00000260505.8	-	17	2466	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	697					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTGACTTTCCTGGAAACCGG	0.363																																						ENST00000260505.8	0.500000	0.190000	4.200000e-01	2.500000e-01	0.330000	0.342713	0.330000	0.320000																										0				29						c.(2089-2091)Gga>Tga		tubulin tyrosine ligase-like family, member 7							157.0	158.0	157.0					1																	84372050		2203	4300	6503	SO:0001587	stop_gained	79739	0	0					g.chr1:84372050C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2089G>T	chr1.hg19:g.84372050C>A	ENSP00000260505:p.Gly697*	1					TTLL7_ENST00000477524.1_5'UTR	p.G697*	NM_024686.4	NP_078962.4	0	1	1	1.827221	Q6ZT98	TTLL7_HUMAN		17	2466	-			Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	0	1	hg19	c.2089G>T	CCDS690.2	0	.	.	.	.	.	.	.	.	.	.	C	44	10.637590	0.99442	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.437791	0.27068	N	0.021087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7465	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	697;474	.	ENSP00000260505:G697X	G	-	1	0	0	TTLL7	84144638	84144638	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.731000	0.74785	2.724000	0.93272	0.585000	0.79938	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.826342	1	0.170000	NM_024686			16	16		506	500	0		1	0		0	0	78	0		9.999281e-01	1.514486e-02	0	0	0	6	0	16	506
TTLL7	79739	broad.mit.edu	37	1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	619					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512																																						ENST00000260505.8	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.946491	0.950000	0.990000																										0				29						c.(1855-1857)cGc>cAc		tubulin tyrosine ligase-like family, member 7							102.0	89.0	93.0					1																	84373275		2203	4300	6503	SO:0001583	missense	79739	0	0					g.chr1:84373275C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1856G>A	chr1.hg19:g.84373275C>T	ENSP00000260505:p.Arg619His	1					TTLL7_ENST00000477524.1_5'UTR	p.R619H	NM_024686.4	NP_078962.4	0	1	1	1.827221	Q6ZT98	TTLL7_HUMAN		16	2233	-			Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	1	1	hg19	c.1856G>A	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012970	0.75161	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.242690	0.40302	N	0.001129	T	0.06462	0.0166	M	0.64997	1.995	0.58432	D	0.999994	D	0.58620	0.983	B	0.41988	0.372	T	0.14282	-1.0478	10	0.87932	D	0	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	619	Q6ZT98	TTLL7_HUMAN	H	619;396;619	ENSP00000260505:R619H	ENSP00000260505:R619H	R	-	2	0	0	TTLL7	84145863	84145863	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	5.540000	0.67205	2.499000	0.84300	0.460000	0.39030	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-17.121530	1	0.170000	NM_024686			30	30		155	150	1		1	0		0	0	49	0		1	8.340496e-01	0	1	0	18	0	30	155
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000342203.3	-	9	1285	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314I	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	341					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.S341N(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)		TTTTCTGATGCTGTTTGTAAG	0.413																																						ENST00000342203.3	1.000000	0.700000	9.800000e-01	8.200000e-01	0.920000	0.906594	0.920000	0.990000																										1	Substitution - Missense(1)	p.S341N(1)	ovary(1)	19						c.(1021-1023)aGc>aTc		synovial sarcoma, X breakpoint 2 interacting protein							146.0	132.0	137.0					1																	85124057		2203	4300	6503	SO:0001583	missense	117178	0	0					g.chr1:85124057C>A		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.1022G>T	chr1.hg19:g.85124057C>A	ENSP00000340279:p.Ser341Ile	1					SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I	p.S341I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	0	1	1	1.827221	Q9Y2D8	ADIP_HUMAN		9	1285	-			A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	1	1	hg19	c.1022G>T	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.194433	0.94960	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.55234	0.56;0.53	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.66386	0.2784	M	0.74258	2.255	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.97	P;P;P	0.59171	0.853;0.791;0.791	T	0.69101	-0.5234	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	341;314;337;341	ENSP00000340279:S341I;ENSP00000412781:S314I	ENSP00000340279:S341I	S	-	2	0	0	SSX2IP	84896645	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_014021			28	27		224	221	1		1	1		0	0	52	0		1	9.924035e-01	0	5	0	59	0	28	224
MCOLN2	255231	broad.mit.edu	37	1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C	rs565640535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	252					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318													A|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3	1.000000	0.900000	1	9.400000e-01	0.980000	0.977191	0.980000	0.990000																										0				18						c.(754-756)tTt>tGt		mucolipin 2							119.0	120.0	120.0					1																	85412808		2203	4297	6500	SO:0001583	missense	255231	0	0					g.chr1:85412808A>C	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.755T>G	chr1.hg19:g.85412808A>C	ENSP00000359640:p.Phe252Cys	1					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	p.F252C	NM_153259.2	NP_694991.2	0	1	1	1.827221	Q8IZK6	MCLN2_HUMAN		7	822	-			A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	1	1	hg19	c.755T>G	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210170	0.58343	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.87029	-2.2;-2.2	5.76	4.62	0.57501	5.76	4.62	0.57501	.	0.149988	0.64402	D	0.000008	D	0.90235	0.6947	M	0.84326	2.69	0.58432	D	0.999997	D	0.71674	0.998	P	0.60789	0.879	D	0.91260	0.5036	10	0.87932	D	0	-25.6273	11.5912	0.50947	0.854:0.0:0.0:0.146	.	252	Q8IZK6	MCLN2_HUMAN	C	252;224	ENSP00000359640:F252C;ENSP00000284027:F224C	ENSP00000284027:F224C	F	-	2	0	0	MCOLN2	85185396	85185396	1.000000	0.71417	0.906000	0.35671	0.586000	0.36452	7.081000	0.76844	0.984000	0.38629	0.472000	0.43445	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.318	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_153259			60	58		250	245	1		1	0		0	0	93	0		1	4.817046e-01	0	1	0	6	0	60	250
MCOLN2	255231	broad.mit.edu	37	1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A	rs201171839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18080	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3	0.990000	0.600000	9.600000e-01	7.300000e-01	0.850000	0.846399	0.850000	0.930000																										0				18						c.(178-180)Cgc>Tgc		mucolipin 2							104.0	104.0	104.0					1																	85431291		2203	4300	6503	SO:0001583	missense	255231	3	121406	36				g.chr1:85431291G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.178C>T	chr1.hg19:g.85431291G>A	ENSP00000359640:p.Arg60Cys	1					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	p.R60C	NM_153259.2	NP_694991.2	0	1	1	1.827221	Q8IZK6	MCLN2_HUMAN		2	245	-			A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	1	1	hg19	c.178C>T	CCDS30762.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.177947	0.57692	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54279	0.58;0.58	5.87	2.85	0.33270	5.87	2.85	0.33270	.	0.557733	0.21351	N	0.075975	T	0.31071	0.0785	L	0.47190	1.495	0.40235	D	0.977896	D	0.62365	0.991	B	0.43623	0.425	T	0.09509	-1.0671	10	0.62326	D	0.03	-28.1451	10.4417	0.44469	0.0598:0.1029:0.7311:0.1063	.	60	Q8IZK6	MCLN2_HUMAN	C	60;32	ENSP00000359640:R60C;ENSP00000284027:R32C	ENSP00000284027:R32C	R	-	1	0	0	MCOLN2	85203879	85203879	0.914000	0.31030	0.678000	0.29963	0.663000	0.39108	1.830000	0.39131	0.146000	0.19002	-0.797000	0.03246	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-9.418932	1	0.170000	NM_153259			24	24		244	241	0		1	0		0	0	60	0		9.999997e-01	2.014358e-01	0	1	0	8	0	24	244
MCOLN3	55283	broad.mit.edu	37	1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	408					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468																																						ENST00000370589.2	1.000000	0.770000	9.900000e-01	8.700000e-01	0.940000	0.933687	0.940000	0.990000																										0				34						c.(1222-1224)gCg>gTg		mucolipin 3		G	VAL/ALA	0,4406		0,0,2203	87.0	84.0	85.0		1223	5.5	0.9	1	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MCOLN3	NM_018298.9	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	408/554	85487850	2,13004	2203	4300	6503	SO:0001583	missense	55283	15	121412	45				g.chr1:85487850G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1223C>T	chr1.hg19:g.85487850G>A	ENSP00000359621:p.Ala408Val	1					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V|MCOLN3_ENST00000474447.1_5'UTR	p.A408V	NM_018298.10	NP_060768.8	0	1	1	1.827221	Q8TDD5	MCLN3_HUMAN		11	1275	-			Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	1	1	hg19	c.1223C>T	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503460	0.85176	0.0	2.33E-4	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.88511	0.6456	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.958;0.982	D	0.88817	0.3296	10	0.52906	T	0.07	-20.4113	19.4397	0.94813	0.0:0.0:1.0:0.0	.	352;408	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	V	408;408;352;352	ENSP00000359621:A408V;ENSP00000342698:A352V	ENSP00000304843:A408V	A	-	2	0	0	MCOLN3	85260438	85260438	1.000000	0.71417	0.933000	0.37362	0.497000	0.33675	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-6.818198	1	0.170000	NM_018298			36	34		259	253	1		1	1		0	0	77	0		1	2.617199e-01	0	2	0	6	0	36	259
MCOLN3	55283	broad.mit.edu	37	1	85491722	85491722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	ENST00000370589.2	-	9	1047	c.995C>T	c.(994-996)tCt>tTt	p.S332F	MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F|MCOLN3_ENST00000474447.1_5'Flank|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	332					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CATTTGATCAGAAACAGAAAC	0.338																																						ENST00000370589.2	1.000000	0.550000	9.700000e-01	7.200000e-01	0.870000	0.851034	0.870000	0.990000																										0				34						c.(994-996)tCt>tTt		mucolipin 3							52.0	51.0	51.0					1																	85491722		2203	4300	6503	SO:0001583	missense	55283	0	0					g.chr1:85491722G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.995C>T	chr1.hg19:g.85491722G>A	ENSP00000359621:p.Ser332Phe	1					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank	p.S332F	NM_018298.10	NP_060768.8	0	1	1	1.827221	Q8TDD5	MCLN3_HUMAN		9	1047	-			Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	0	1	hg19	c.995C>T	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719362	0.68844	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76968	-1.06;-1.06	6.16	5.2	0.72013	6.16	5.2	0.72013	.	0.265839	0.43919	D	0.000507	T	0.81805	0.4900	M	0.74881	2.28	0.39379	D	0.966227	P;P;D	0.53462	0.865;0.95;0.96	P;P;P	0.60609	0.77;0.877;0.815	T	0.81854	-0.0741	10	0.49607	T	0.09	-4.9798	11.3141	0.49381	0.0:0.1078:0.6668:0.2254	.	332;276;332	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	F	332;332;276;276	ENSP00000359621:S332F;ENSP00000342698:S276F	ENSP00000304843:S332F	S	-	2	0	0	MCOLN3	85264310	85264310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.292000	0.59031	2.937000	0.99478	0.650000	0.86243	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	0	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-8.039214	1	0.170000	NM_018298			10	10		66	66	0		1	1		0	0	33	0		9.975322e-01	4.631795e-01	0	6	0	5	0	10	66
WDR63	126820	broad.mit.edu	37	1	85570251	85570251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	508										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)		GTGGAATATGCTGTCAACTTG	0.328																																						ENST00000294664.6	1.000000	0.860000	1	9.200000e-01	0.970000	0.964489	0.970000	0.990000																										0				36						c.(1522-1524)tgC>tgT		WD repeat domain 63							172.0	162.0	165.0					1																	85570251		2203	4300	6503	SO:0001819	synonymous_variant	126820	0	0					g.chr1:85570251C>T		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.1524C>T	chr1.hg19:g.85570251C>T		1					WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	p.C508C	NM_145172.3	NP_660155.2	0	1	1	1.827221	Q8IWG1	WDR63_HUMAN		14	1704	+			A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	1	1	hg19	c.1524C>T	CCDS702.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_145172			39	39		162	160	1		1			0	0	30	0		1	0	0	0	0	0	0	39	162
SYDE2	84144	broad.mit.edu	37	1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	831	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			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)		CAGAAGGGGCACCATCAGTCC	0.333																																						ENST00000341460.5	0.990000	0.380000	9.300000e-01	5.600000e-01	0.770000	0.753374	0.770000	0.930000																										0				20						c.(2491-2493)gTg>gCg		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							46.0	41.0	42.0					1																	85647833		1817	4077	5894	SO:0001583	missense	84144	0	0					g.chr1:85647833A>G	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.2492T>C	chr1.hg19:g.85647833A>G	ENSP00000340594:p.Val831Ala	1						p.V831A	NM_032184.1	NP_115560.1	0	1	1	1.827221	Q5VT97	SYDE2_HUMAN		3	2541	-			Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	0	1	hg19	c.2492T>C	CCDS44169.1	0	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882579	0.72294	.	.	ENSG00000097096	ENST00000341460	T	0.50548	0.74	5.85	5.85	0.93711	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.978;0.997	T	0.71646	-0.4530	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	831;831	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	831	ENSP00000340594:V831A	ENSP00000340594:V831A	V	-	2	0	0	SYDE2	85420421	85420421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	GTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-5.435222	1	0.170000				6	6		56	55	1		1	0		0	0	13	0		9.658257e-01	2.199490e-01	0	1	0	7	0	6	56
C1orf52	148423	broad.mit.edu	37	1	85724406	85724406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	ENST00000471115.1	-	2	285		c.e2-1		C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTTTGGAGGCTGTTAAGCAA	0.498																																						ENST00000471115.1	0.940000	0.250000	7.900000e-01	3.900000e-01	0.570000	0.593808	0.570000	0.550000																										0				10						c.e2-1		chromosome 1 open reading frame 52							46.0	40.0	42.0					1																	85724406		2202	4300	6502	SO:0001630	splice_region_variant	148423	0	0					g.chr1:85724406C>T	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.277-1G>A	chr1.hg19:g.85724406C>T		1					C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site		NM_198077.3	NP_932343.1	0	1	1	1.827221	Q8N6N3	CA052_HUMAN		2	285	-			B3KX89|Q8TDK5|Q8TDK6	Splice_Site	SNP	ENST00000471115.1	0	1	hg19		CCDS703.1	0	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122420	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.936	0.89012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	C1orf52	85496994	85496994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.877000	0.75562	2.532000	0.85374	0.650000	0.86243	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-10.219120	1	0.170000	NM_198077	Intron		6	6		102	99	0		1	1		0	0	18	0		9.632853e-01	9.333015e-02	0	7	0	1	0	6	102
DDAH1	23576	broad.mit.edu	37	1	85930637	85930637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85930637C>A	ENST00000284031.8	-	1	186	c.92G>T	c.(91-93)aGa>aTa	p.R31I	RP11-131L23.2_ENST00000610230.1_lincRNA|DDAH1_ENST00000483110.1_Intron|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000426972.3_5'Flank	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	31					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTTGGCGCTTCTCAGCGCGTG	0.751																																						ENST00000284031.8	0.990000	0.320000	9.300000e-01	5.300000e-01	0.750000	0.734788	0.750000	0.990000																										0				5						c.(91-93)aGa>aTa		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						6.0	7.0	7.0					1																	85930637		2103	4156	6259	SO:0001583	missense	23576	0	0					g.chr1:85930637C>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.92G>T	chr1.hg19:g.85930637C>A	ENSP00000284031:p.Arg31Ile	1					DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000426972.3_5'Flank|RP11-131L23.2_ENST00000610230.1_lincRNA|DDAH1_ENST00000483110.1_Intron|DDAH1_ENST00000535924.2_Intron	p.R31I	NM_012137.3	NP_036269.1	0	1	1	1.827221	O94760	DDAH1_HUMAN		1	186	-			Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	0	1	hg19	c.92G>T	CCDS705.1	0	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410933	0.42817	.	.	ENSG00000153904	ENST00000284031;ENST00000539042	.	.	.	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.048785	0.52532	D	0.000069	T	0.68348	0.2991	M	0.81497	2.545	0.80722	D	1	D	0.55605	0.972	P	0.53861	0.736	T	0.70594	-0.4829	9	0.38643	T	0.18	-9.9586	17.2126	0.86935	0.0:1.0:0.0:0.0	.	31	O94760	DDAH1_HUMAN	I	31	.	ENSP00000284031:R31I	R	-	2	0	0	DDAH1	85703225	85703225	0.944000	0.32072	0.481000	0.27354	0.003000	0.03518	6.518000	0.73764	2.246000	0.74042	0.591000	0.81541	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.751	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-10.313270	1	0.170000				4	4		32	32	0		1	0		0	0	8	0		8.941607e-01	2.024291e-02	0	0	0	2	0	4	32
CYR61	3491	broad.mit.edu	37	1	86047131	86047131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RP11-290M5.4_ENST00000609367.1_lincRNA|CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2	0.980000	0.350000	9.000000e-01	5.200000e-01	0.720000	0.718784	0.720000	0.780000																										0				5						c.(145-147)ggC>ggT		cysteine-rich, angiogenic inducer, 61							14.0	16.0	16.0					1																	86047131		2201	4297	6498	SO:0001819	synonymous_variant	3491	0	0					g.chr1:86047131C>T	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.147C>T	chr1.hg19:g.86047131C>T		1		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR|RP11-290M5.4_ENST00000609367.1_lincRNA	p.G49G	NM_001554.4	NP_001545.2	0	1	1	1.827221	O00622	CYR61_HUMAN		2	371	+			O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	0	1	hg19	c.147C>T	CCDS706.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-12.462940	1	0.170000	NM_001554			7	7		82	82	1		1	1		0	0	13	0		9.820546e-01	9.989326e-01	0	21	0	148	0	7	82
CYR61	3491	broad.mit.edu	37	1	86047630	86047630	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	99	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGGCAGACCCTGTGAATATA	0.453											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2	0.410000	0.170000	3.400000e-01	2.100000e-01	0.270000	0.285820	0.270000	0.270000																										0				5						c.(295-297)ccC>ccA		cysteine-rich, angiogenic inducer, 61							112.0	131.0	125.0					1																	86047630		2203	4300	6503	SO:0001819	synonymous_variant	3491	0	0					g.chr1:86047630C>A	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.297C>A	chr1.hg19:g.86047630C>A		1		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.P99P	NM_001554.4	NP_001545.2	0	1	1	1.827221	O00622	CYR61_HUMAN		3	521	+			O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	1	1	hg19	c.297C>A	CCDS706.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	0	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-2.063464	0	0.170000	NM_001554			20	20		759	743	0		1	1		0	0	150	0		9.999940e-01	9.978135e-01	0	5	0	361	0	20	759
ZNHIT6	54680	broad.mit.edu	37	1	86167924	86167924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	ENST00000370574.3	-	5	1068	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R273H			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	312					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)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTCCGGGCACGATTTTTCAT	0.294																																						ENST00000370574.3	0.990000	0.540000	9.500000e-01	6.800000e-01	0.830000	0.819921	0.830000	0.920000																										0				17						c.(934-936)cGt>cAt		zinc finger, HIT-type containing 6							61.0	60.0	61.0					1																	86167924		2202	4299	6501	SO:0001583	missense	54680	3	121398	36				g.chr1:86167924C>T	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.935G>A	chr1.hg19:g.86167924C>T	ENSP00000359606:p.Arg312His	1					ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R273H	p.R312H			0	1	1	1.827221	Q9NWK9	BCD1_HUMAN		5	1068	-			B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	0	1	hg19	c.935G>A	CCDS707.1	0	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793802	0.90453	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48201	0.86;0.82	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.192613	0.44483	D	0.000459	T	0.57946	0.2088	L	0.60455	1.87	0.45607	D	0.998545	D;D	0.76494	0.999;0.999	P;P	0.62184	0.793;0.899	T	0.59894	-0.7368	10	0.66056	D	0.02	-12.6765	19.0665	0.93113	0.0:1.0:0.0:0.0	.	273;312	B4DP13;Q9NWK9	.;BCD1_HUMAN	H	273;312	ENSP00000414344:R273H;ENSP00000359606:R312H	ENSP00000359606:R312H	R	-	2	0	0	ZNHIT6	85940512	85940512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.660000	0.54496	2.666000	0.90696	0.555000	0.69702	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	0	0	0		18	8	2	1		1	1	43		43	43	1	2.060000	-7.629560	1	0.170000	NM_017953			16	15		162	159	0		0	0		1	0	43	0		3.945652e-01	1.605007e-01	0	7	0	47	0	16	162
COL24A1	255631	broad.mit.edu	37	1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	365					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGCTAAATTTCTCTTTGGTAT	0.398																																						ENST00000370571.2	0.990000	0.610000	9.500000e-01	7.300000e-01	0.850000	0.844646	0.850000	0.900000																										0				101						c.(1093-1095)gaG>gaT		collagen, type XXIV, alpha 1							160.0	140.0	146.0					1																	86590924		1925	4124	6049	SO:0001583	missense	255631	0	0					g.chr1:86590924C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1095G>T	chr1.hg19:g.86590924C>A	ENSP00000359603:p.Glu365Asp	1					COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	p.E365D	NM_152890.5	NP_690850.2	0	1	1	1.827221	Q17RW2	COOA1_HUMAN		3	1461	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	1	1	hg19	c.1095G>T	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777566	0.02929	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.45	1.25	0.21368	5.45	1.25	0.21368	.	0.372941	0.19618	N	0.109968	T	0.68339	0.2990	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.58912	-0.7552	10	0.13108	T	0.6	.	2.3708	0.04330	0.2633:0.4555:0.1282:0.153	.	365;365	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	365	ENSP00000359603:E365D;ENSP00000392531:E365D	ENSP00000359603:E365D	E	-	3	2	2	COL24A1	86363512	86363512	0.001000	0.12720	0.152000	0.22495	0.217000	0.24651	0.072000	0.14617	-0.020000	0.14032	0.563000	0.77884	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_152890			31	31		332	325	0		1	0		0	0	82	0		1	0	0	0	0	1	0	31	332
COL24A1	255631	broad.mit.edu	37	1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	343					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTGTCTGAGTATCTTCCTC	0.413																																						ENST00000370571.2	1.000000	0.940000	1	9.700000e-01	0.980000	0.988130	0.980000	0.990000																										0				101						c.(1027-1029)aCt>aTt		collagen, type XXIV, alpha 1							127.0	112.0	116.0					1																	86590991		1925	4137	6062	SO:0001583	missense	255631	0	0					g.chr1:86590991G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1028C>T	chr1.hg19:g.86590991G>A	ENSP00000359603:p.Thr343Ile	1					COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	p.T343I	NM_152890.5	NP_690850.2	0	1	1	1.827221	Q17RW2	COOA1_HUMAN		3	1394	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	1	1	hg19	c.1028C>T	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413974	0.01145	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94417	-3.42;-3.42	4.84	-2.47	0.06442	4.84	-2.47	0.06442	.	1.259990	0.05942	N	0.637237	T	0.73644	0.3613	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.66610	-0.5880	10	0.19590	T	0.45	.	6.7819	0.23650	0.3372:0.2986:0.3642:0.0	.	343;343	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	343	ENSP00000359603:T343I;ENSP00000392531:T343I	ENSP00000359603:T343I	T	-	2	0	0	COL24A1	86363579	86363579	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-1.017000	0.03630	-0.139000	0.11414	0.563000	0.77884	ACT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_152890			92	91		297	294	1		1	0		0	0	77	0		1	1.435330e-01	0	0	0	3	0	92	297
COL24A1	255631	broad.mit.edu	37	1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	232					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAGTCTGCAGATGCTTCT	0.363																																						ENST00000370571.2	1.000000	0.910000	1	9.500000e-01	0.980000	0.981209	0.980000	0.990000																										0				101						c.(694-696)Gca>Aca		collagen, type XXIV, alpha 1							60.0	59.0	59.0					1																	86591325		1961	4155	6116	SO:0001583	missense	255631	0	0					g.chr1:86591325C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.694G>A	chr1.hg19:g.86591325C>T	ENSP00000359603:p.Ala232Thr	1					COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	p.A232T	NM_152890.5	NP_690850.2	0	1	1	1.827221	Q17RW2	COOA1_HUMAN		3	1060	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	1	1	hg19	c.694G>A	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963121	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02177	4.41;4.41	5.82	1.28	0.21552	5.82	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);	0.451445	0.16444	N	0.214147	T	0.00695	0.0023	L	0.39147	1.195	0.36043	D	0.840222	P;B	0.43287	0.802;0.068	B;B	0.36959	0.237;0.022	T	0.64516	-0.6389	10	0.27785	T	0.31	.	4.8693	0.13624	0.4501:0.3586:0.1216:0.0697	.	232;232	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	232	ENSP00000359603:A232T;ENSP00000392531:A232T	ENSP00000359603:A232T	A	-	1	0	0	COL24A1	86363913	86363913	0.995000	0.38212	0.984000	0.44739	0.694000	0.40290	0.403000	0.20982	-0.042000	0.13535	0.655000	0.94253	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_152890			63	61		211	206	1		1	0		0	0	57	0		1	0	0	0	0	1	0	63	211
CLCA2	9635	broad.mit.edu	37	1	86905863	86905863	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86905863C>T	ENST00000370565.4	+	8	1398	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	412	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)			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)		AAGCTTATGGCTCTGTGATGA	0.408																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4	0.400000	0.150000	3.400000e-01	2.000000e-01	0.260000	0.275261	0.260000	0.260000																										0				42						c.(1234-1236)ggC>ggT		chloride channel accessory 2							161.0	160.0	160.0					1																	86905863		2203	4300	6503	SO:0001819	synonymous_variant	9635	0	0					g.chr1:86905863C>T		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.1236C>T	chr1.hg19:g.86905863C>T		1						p.G412G	NM_006536.5	NP_006527.1	0	1	1	1.827221	Q9UQC9	CLCA2_HUMAN		8	1398	+		Lung NSC(277;0.238)	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	1	1	hg19	c.1236C>T	CCDS708.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	0	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-2.834114	1	0.170000	NM_006536			17	17		675	660	0		1			0	0	138	0		9.999578e-01	0	0	0	0	0	0	17	675
CLCA2	9635	broad.mit.edu	37	1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	536					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)			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)		AGTGGTCCTCCTGAGATTATA	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4	1.000000	0.950000	1	9.700000e-01	0.990000	0.992028	0.990000	0.990000																										0				42						c.(1606-1608)cCt>cAt		chloride channel accessory 2							139.0	130.0	133.0					1																	86909588		2203	4300	6503	SO:0001583	missense	9635	0	0					g.chr1:86909588C>A		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.1607C>A	chr1.hg19:g.86909588C>A	ENSP00000359596:p.Pro536His	1						p.P536H	NM_006536.5	NP_006527.1	0	1	1	1.827221	Q9UQC9	CLCA2_HUMAN		10	1769	+		Lung NSC(277;0.238)	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	1	1	hg19	c.1607C>A	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922572	0.52653	.	.	ENSG00000137975	ENST00000370565	T	0.61742	0.08	5.66	4.74	0.60224	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.060811	0.64402	D	0.000003	T	0.71492	0.3346	M	0.86805	2.84	0.42859	D	0.994109	D	0.89917	1.0	D	0.77557	0.99	T	0.73924	-0.3829	10	0.29301	T	0.29	-10.2944	15.6306	0.76906	0.1386:0.8614:0.0:0.0	.	536	Q9UQC9	CLCA2_HUMAN	H	536	ENSP00000359596:P536H	ENSP00000359596:P536H	P	+	2	0	0	CLCA2	86682176	86682176	1.000000	0.71417	0.961000	0.40146	0.265000	0.26407	3.317000	0.51968	1.382000	0.46385	0.650000	0.86243	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	1	0	1		16	2	2	0		0	1	112		112	110	1	2.060000	-4.839967	1	0.170000	NM_006536			126	126		400	389	1		1			0	0	112	0		1	0	0	0	0	0	0	126	400
CLCA1	1179	broad.mit.edu	37	1	86934771	86934771	+	Silent	SNP	C	C	T	rs550010719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	39					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)			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)		TCGTTGCAATCGACCCCAATG	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19089	0.0		0.0	False		,,,				2504	0.0					ENST00000234701.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.981705	0.980000	0.990000																										0				38						c.(115-117)atC>atT		chloride channel accessory 1							123.0	116.0	118.0					1																	86934771		2203	4300	6503	SO:0001819	synonymous_variant	1179	2	121412	32				g.chr1:86934771C>T		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.117C>T	chr1.hg19:g.86934771C>T		1					CLCA1_ENST00000394711.1_Silent_p.I39I	p.I39I			0	1	1	1.827221	A8K7I4	CLCA1_HUMAN		2	468	+		Lung NSC(277;0.239)	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	1	1	hg19	c.117C>T	CCDS709.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-4.021166	1	0.170000	NM_001285			66	66		231	227	1		1			0	0	64	0		1	0	0	0	0	0	0	66	231
CLCA1	1179	broad.mit.edu	37	1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	227					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)			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)		TGAGTTTGTTCTCCAATCCCG	0.413																																						ENST00000234701.3	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.949518	0.950000	0.990000																										0				38						c.(679-681)Ctc>Atc		chloride channel accessory 1							136.0	129.0	132.0					1																	86948009		2203	4300	6503	SO:0001583	missense	1179	0	0					g.chr1:86948009C>A		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.679C>A	chr1.hg19:g.86948009C>A	ENSP00000234701:p.Leu227Ile	1					CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I	p.L227I			0	1	1	1.827221	A8K7I4	CLCA1_HUMAN		6	1030	+		Lung NSC(277;0.239)	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	1	1	hg19	c.679C>A	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728078	0.48833	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11604	2.76;2.76	5.49	5.49	0.81192	5.49	5.49	0.81192	Chloride channel calcium-activated (1);	0.129596	0.52532	D	0.000080	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.21827	-1.0234	10	0.54805	T	0.06	-5.6807	18.5051	0.90894	0.0:1.0:0.0:0.0	.	227	A8K7I4	CLCA1_HUMAN	I	227	ENSP00000234701:L227I;ENSP00000378200:L227I	ENSP00000234701:L227I	L	+	1	0	0	CLCA1	86720597	86720597	0.483000	0.25956	0.022000	0.16811	0.002000	0.02628	4.384000	0.59607	2.746000	0.94184	0.655000	0.94253	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.077172	1	0.170000	NM_001285			40	40		251	248	1		1			0	0	53	0		1	0	0	0	0	0	0	40	251
CLCA4	22802	broad.mit.edu	37	1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				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.T61M(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)		ACAGCTTCTACGTACCTGTTT	0.343																																						ENST00000370563.3	1.000000	0.800000	9.900000e-01	8.800000e-01	0.940000	0.940433	0.940000	0.990000																										1	Substitution - Missense(1)	p.T61M(1)	large_intestine(1)	44						c.(181-183)aCg>aTg		chloride channel accessory 4							138.0	124.0	128.0					1																	87025637		1820	4083	5903	SO:0001583	missense	22802	1	120792	35				g.chr1:87025637C>T	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.182C>T	chr1.hg19:g.87025637C>T	ENSP00000359594:p.Thr61Met	1					CLCA4_ENST00000263723.5_5'UTR	p.T61M	NM_012128.3	NP_036260.2	0	1	1	1.827221	Q14CN2	CLCA4_HUMAN		2	224	+		Lung NSC(277;0.238)	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	1	1	hg19	c.182C>T	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	0	CLCA4	86798225	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	1	0	1		2	2	2	0		0	0	153		153	152	1	2.060000	-19.715680	1	0.170000	NM_012128			64	63		544	535	1		1			0	0	153	0		1	0	0	0	0	0	0	64	544
CLCA4	22802	broad.mit.edu	37	1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	364	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			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)		CAAATAAAAAGCAGTGATGAA	0.398																																						ENST00000370563.3	1.000000	0.670000	9.800000e-01	7.900000e-01	0.900000	0.888675	0.900000	0.990000																										0				44						c.(1090-1092)aGc>aTc		chloride channel accessory 4							96.0	97.0	97.0					1																	87033243		1909	4135	6044	SO:0001583	missense	22802	0	0					g.chr1:87033243G>T	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.1091G>T	chr1.hg19:g.87033243G>T	ENSP00000359594:p.Ser364Ile	1					CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	p.S364I	NM_012128.3	NP_036260.2	0	1	1	1.827221	Q14CN2	CLCA4_HUMAN		7	1133	+		Lung NSC(277;0.238)	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	1	1	hg19	c.1091G>T	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741101	0.49151	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.70045	-0.45;-0.45	5.98	2.75	0.32379	5.98	2.75	0.32379	von Willebrand factor, type A (3);	0.414937	0.29508	N	0.011949	T	0.70254	0.3203	M	0.87758	2.905	0.09310	N	1	D	0.53885	0.963	D	0.65573	0.936	T	0.63332	-0.6661	10	0.87932	D	0	-7.571	4.875	0.13651	0.161:0.1236:0.6015:0.1139	.	364	Q14CN2	CLCA4_HUMAN	I	364;77	ENSP00000359594:S364I;ENSP00000263723:S77I	ENSP00000263723:S77I	S	+	2	0	0	CLCA4	86805831	86805831	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	1.142000	0.31540	0.785000	0.33685	-0.345000	0.07892	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-11.278500	1	0.170000	NM_012128			28	26		249	244	1		1			0	0	55	0		1	0	0	0	0	0	0	28	249
SH3GLB1	51100	broad.mit.edu	37	1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	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	90	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)			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)		AGCTCCAAGTCGTATAAACAA	0.358																																						ENST00000370558.4	0.860000	0.350000	7.300000e-01	4.500000e-01	0.580000	0.597433	0.580000	0.570000																										0				11						c.(268-270)Cgt>Tgt		SH3-domain GRB2-like endophilin B1							74.0	77.0	76.0					1																	87185243		2203	4300	6503	SO:0001583	missense	51100	0	0					g.chr1:87185243C>T	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.268C>T	chr1.hg19:g.87185243C>T	ENSP00000473267:p.Arg90Cys	1					SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	p.R90C	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	0	1	1	1.827221	Q9Y371	SHLB1_HUMAN		3	592	+		Lung NSC(277;0.209)	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	1	1	hg19	c.268C>T	CCDS710.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.165477	0.94768	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.32272	1.46	5.95	5.95	0.96441	5.95	5.95	0.96441	BAR (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67968	-0.5533	10	0.87932	D	0	-0.4584	20.3748	0.98911	0.0:1.0:0.0:0.0	.	90;90	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	C	90	ENSP00000418744:R90C	ENSP00000212369:R90C	R	+	1	0	0	SH3GLB1	86957831	86957831	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.076183	1	0.170000	NM_016009			17	17		294	286	0		1	1		0	0	52	0		9.999608e-01	9.999979e-01	0	26	0	390	0	17	294
SEP15	9403	broad.mit.edu	37	1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		127					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403																																						ENST00000331835.5	1.000000	0.570000	9.600000e-01	7.200000e-01	0.860000	0.848199	0.860000	0.990000																										0										c.(379-381)gTa>gGa									101.0	91.0	94.0					1																	87329266		1882	4104	5986	SO:0001583	missense	0	0	0					g.chr1:87329266A>C																												ENST00000331835.5:c.380T>G	chr1.hg19:g.87329266A>C	ENSP00000328729:p.Val127Gly	1					SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D	p.V127G	NM_004261.3	NP_004252.2	0	1	1	1.827221	O60613	SEP15_HUMAN		5	642	-		Lung NSC(277;0.153)	Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Missense_Mutation	SNP	ENST00000331835.5	1	0	hg19	c.380T>G		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.27|18.27|18.27	3.585955|3.585955|3.585955	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000183291|ENSG00000183291|ENSG00000183291	ENST00000370554|ENST00000331835|ENST00000401030	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|Thioredoxin-like fold (1);|.	.|0.272182|.	.|0.30809|.	.|N|.	.|0.008825|.	T|T|T	0.54431|0.54431|0.54431	0.1858|0.1858|0.1858	.|.|.	.|.|.	.|.|.	0.30850|0.30850|0.30850	N|N|N	0.734679|0.734679|0.734679	D|P|.	0.53885|0.49783|.	0.963|0.928|.	B|P|.	0.43950|0.51918|.	0.437|0.684|.	T|T|T	0.59306|0.59306|0.59306	-0.7479|-0.7479|-0.7479	7|8|5	0.87932|0.52906|0.87932	D|T|D	0|0.07|0	-23.4263|-23.4263|-23.4263	16.2107|16.2107|16.2107	0.82151|0.82151|0.82151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	110|127|.	O60613-2|O60613|.	.|SEP15_HUMAN|.	W|G|D	110|127|141	.|.|.	ENSP00000359585:C110W|ENSP00000328729:V127G|ENSP00000383810:Y141D	C|V|Y	-|-|-	3|2|1	2|0|0	2|0|0	RP4-604K5.1|RP4-604K5.1|RP4-604K5.1	87101854|87101854|87101854	87101854|87101854|87101854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.933000|0.933000|0.933000	0.37362|0.37362|0.37362	0.506000|0.506000|0.506000	0.33950|0.33950|0.33950	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.293000|2.293000|2.293000	0.77203|0.77203|0.77203	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	TGT|GTA|TAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.999720	1	0.170000				16	16		143	140	1		1	1		0	0	35	0		9.999401e-01	1	0	141	0	969	0	16	143
HS2ST1	9653	broad.mit.edu	37	1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	145					carbohydrate metabolic process (GO:0005975)|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)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313																																						ENST00000370550.5	1.000000	0.910000	1	9.500000e-01	0.980000	0.980705	0.980000	0.990000																										0				9						c.(433-435)taC>taA		heparan sulfate 2-O-sulfotransferase 1							100.0	102.0	101.0					1																	87549948		2203	4299	6502	SO:0001587	stop_gained	9653	0	0					g.chr1:87549948C>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.435C>A	chr1.hg19:g.87549948C>A	ENSP00000359581:p.Tyr145*	1					RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*	p.Y145*	NM_012262.3	NP_036394.1	0	1	1	1.827221	Q7LGA3	HS2ST_HUMAN		3	798	+		Lung NSC(277;0.153)	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Nonsense_Mutation	SNP	ENST00000370550.5	0	1	hg19	c.435C>A	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.658635	0.97739	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.81	-0.175	0.13315	5.81	-0.175	0.13315	.	0.114120	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.0488	12.1377	0.53981	0.0:0.5105:0.0:0.4895	.	.	.	.	X	145;145;119;119	.	ENSP00000349268:Y119X	Y	+	3	2	2	HS2ST1	87322536	87322536	0.825000	0.29262	0.998000	0.56505	0.998000	0.95712	-0.071000	0.11505	0.051000	0.15978	0.637000	0.83480	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_012262			63	61		221	219	1		1	1		0	0	61	0		1	1	0	2	0	99	0	63	221
GBP1	2633	broad.mit.edu	37	1	89520419	89520419	+	Silent	SNP	G	G	A	rs369920657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	537					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACCCTGTCGTTCTCCATCT	0.423																																						ENST00000370473.4	0.700000	0.460000	6.400000e-01	5.100000e-01	0.570000	0.582690	0.570000	0.580000																										0				30						c.(1609-1611)aaC>aaT		guanylate binding protein 1, interferon-inducible		G		0,4406		0,0,2203	304.0	305.0	304.0		1611	-2.8	0.0	1		304	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GBP1	NM_002053.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		537/593	89520419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2633	1	121412	43				g.chr1:89520419G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1611C>T	chr1.hg19:g.89520419G>A		1					GBP1_ENST00000484970.1_5'UTR	p.N537N	NM_002053.2	NP_002044.2	0	1	1	1.827221	P32455	GBP1_HUMAN		10	1830	-		Lung NSC(277;0.123)	D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	1	1	hg19	c.1611C>T	CCDS718.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	1	0	1		2	2	2	0		0	0	371		371	369	1	2.060000	-9.178405	1	0.170000	NM_002053			83	81		1457	1413	0		1	1		0	0	371	0		1	9.999999e-01	0	17	0	359	0	83	1457
GBP1	2633	broad.mit.edu	37	1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	108	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483																																						ENST00000370473.4	1.000000	0.720000	9.800000e-01	8.200000e-01	0.910000	0.903571	0.910000	0.990000																										0				30						c.(322-324)Gac>Aac		guanylate binding protein 1, interferon-inducible							135.0	120.0	125.0					1																	89525106		2203	4298	6501	SO:0001583	missense	2633	0	0					g.chr1:89525106C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.322G>A	chr1.hg19:g.89525106C>T	ENSP00000359504:p.Asp108Asn	1						p.D108N	NM_002053.2	NP_002044.2	0	1	1	1.827221	P32455	GBP1_HUMAN		4	541	-		Lung NSC(277;0.123)	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	1	1	hg19	c.322G>A	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680954	0.47886	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.75938	-0.98	4.6	1.65	0.23941	4.6	1.65	0.23941	Guanylate-binding protein, N-terminal (1);	0.225904	0.42682	N	0.000670	T	0.49712	0.1573	L	0.52905	1.665	0.24793	N	0.992749	B	0.28713	0.22	B	0.32805	0.153	T	0.47446	-0.9117	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7053:0.0:0.2947	.	108	P32455	GBP1_HUMAN	N	108;71	ENSP00000359504:D108N	ENSP00000359504:D108N	D	-	1	0	0	GBP1	89297694	89297694	0.987000	0.35691	0.996000	0.52242	0.820000	0.46376	1.855000	0.39378	0.382000	0.24878	0.306000	0.20318	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-14.270440	1	0.170000	NM_002053			44	43		412	403	1		1	1		0	0	80	0		1	1	0	24	0	234	0	44	412
GBP2	2634	broad.mit.edu	37	1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A	rs201969713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	486					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19238	0.001		0.0	False		,,,				2504	0.0					ENST00000370466.3	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.926905	0.930000	0.990000																										0				20						c.(1456-1458)gCg>gTg		guanylate binding protein 2, interferon-inducible							197.0	177.0	184.0					1																	89575855		2203	4300	6503	SO:0001583	missense	2634	2	121412	35				g.chr1:89575855G>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1457C>T	chr1.hg19:g.89575855G>A	ENSP00000359497:p.Ala486Val	1					GBP2_ENST00000463660.1_5'Flank	p.A486V	NM_004120.3	NP_004111.2	0	1	1	1.827221	P32456	GBP2_HUMAN		9	1725	-		Lung NSC(277;0.0908)	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	1	1	hg19	c.1457C>T	CCDS719.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.932109	0.52866	.	.	ENSG00000162645	ENST00000370466	T	0.02216	4.39	3.85	2.72	0.32119	3.85	2.72	0.32119	Guanylate-binding protein, C-terminal (3);	4.217600	0.02050	U	0.049988	T	0.01627	0.0052	M	0.65677	2.01	0.22858	N	0.998644	B	0.27351	0.176	B	0.29942	0.109	T	0.46884	-0.9159	10	0.54805	T	0.06	-6.9689	8.6466	0.34009	0.0:0.0:0.2062:0.7938	.	486	P32456	GBP2_HUMAN	V	486	ENSP00000359497:A486V	ENSP00000359497:A486V	A	-	2	0	0	GBP2	89348443	89348443	0.002000	0.14202	0.423000	0.26634	0.601000	0.36947	0.741000	0.26202	0.634000	0.30469	-0.271000	0.10264	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-16.531660	1	0.170000	NM_004120			50	50		431	424	1		1	1		0	0	80	0		1	1	0	150	0	1103	0	50	431
GBP2	2634	broad.mit.edu	37	1	89587545	89587545	+	Silent	SNP	C	C	T	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	35	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527																																						ENST00000370466.3	1.000000	0.950000	1	9.700000e-01	0.990000	0.992231	0.990000	0.990000																										0				20						c.(103-105)acG>acA		guanylate binding protein 2, interferon-inducible		C		6,4400	11.4+/-27.6	0,6,2197	158.0	145.0	150.0		105	-6.9	0.0	1	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		35/592	89587545	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2634	24	121412	50				g.chr1:89587545C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.105G>A	chr1.hg19:g.89587545C>T		1					GBP2_ENST00000463660.1_5'Flank	p.T35T	NM_004120.3	NP_004111.2	0	1	1	1.827221	P32456	GBP2_HUMAN		2	373	-		Lung NSC(277;0.0908)	Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	1	1	hg19	c.105G>A	CCDS719.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-2.828214	1	0.170000	NM_004120			133	131		452	445	1		1	1		0	0	112	0		1	1	0	149	0	468	0	133	452
GBP4	115361	broad.mit.edu	37	1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)		AACCACCTGTGACTGCAGGAA	0.517																																						ENST00000355754.6	1.000000	0.760000	9.900000e-01	8.600000e-01	0.940000	0.929841	0.940000	0.990000																										0				33						c.(1441-1443)tCa>tTa		guanylate binding protein 4							137.0	117.0	124.0					1																	89652754		2203	4300	6503	SO:0001583	missense	115361	0	0					g.chr1:89652754G>A	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.1442C>T	chr1.hg19:g.89652754G>A	ENSP00000359490:p.Ser481Leu	1					GBP4_ENST00000471938.1_5'Flank	p.S481L	NM_052941.4	NP_443173.2	0	1	1	1.827221	Q96PP9	GBP4_HUMAN		9	1539	-			B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	1	1	hg19	c.1442C>T	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410312	0.42715	.	.	ENSG00000162654	ENST00000355754	T	0.02606	4.23	4.3	1.27	0.21489	4.3	1.27	0.21489	Guanylate-binding protein, C-terminal (3);	0.733487	0.12731	N	0.443803	T	0.03305	0.0096	M	0.92317	3.295	0.09310	N	1	P	0.37573	0.6	B	0.42653	0.394	T	0.21655	-1.0239	10	0.48119	T	0.1	.	5.8011	0.18414	0.0935:0.0:0.4101:0.4964	.	481	Q96PP9	GBP4_HUMAN	L	481	ENSP00000359490:S481L	ENSP00000359490:S481L	S	-	2	0	0	GBP4	89425342	89425342	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.528000	0.23002	0.156000	0.19299	-1.130000	0.01982	TCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-15.545440	1	0.170000	NM_052941			40	40		313	310	1		1	1		0	0	84	0		1	1	0	6	0	260	0	40	313
GBP4	115361	broad.mit.edu	37	1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	341						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)		CCTCTGCACAGCCGCTGGGTT	0.592																																						ENST00000355754.6	1.000000	0.920000	1	9.600000e-01	0.980000	0.983665	0.980000	0.990000																										0				33						c.(1021-1023)gCt>gTt		guanylate binding protein 4							65.0	62.0	63.0					1																	89655896		2203	4300	6503	SO:0001583	missense	115361	0	0					g.chr1:89655896G>A	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.1022C>T	chr1.hg19:g.89655896G>A	ENSP00000359490:p.Ala341Val	1						p.A341V	NM_052941.4	NP_443173.2	0	1	1	1.827221	Q96PP9	GBP4_HUMAN		7	1119	-			B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	1	1	hg19	c.1022C>T	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492929	0.84962	.	.	ENSG00000162654	ENST00000355754	T	0.09817	2.94	5.07	5.07	0.68467	5.07	5.07	0.68467	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.90977	3.165	0.38393	D	0.945461	D	0.89917	1.0	D	0.72075	0.976	T	0.39187	-0.9626	10	0.87932	D	0	.	16.3386	0.83074	0.0:0.0:1.0:0.0	.	341	Q96PP9	GBP4_HUMAN	V	341	ENSP00000359490:A341V	ENSP00000359490:A341V	A	-	2	0	0	GBP4	89428484	89428484	0.999000	0.42202	0.181000	0.23098	0.005000	0.04900	4.089000	0.57685	2.797000	0.96272	0.655000	0.94253	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_052941			76	74		286	283	1		1	1		0	0	54	0		1	1	0	44	0	205	0	76	286
GBP4	115361	broad.mit.edu	37	1	89657065	89657065	+	Silent	SNP	G	G	A	rs539360281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	265	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)		CTGGCACTTCGTCCATATGAT	0.418																																						ENST00000355754.6	1.000000	0.910000	1	9.500000e-01	0.980000	0.978995	0.980000	0.990000																										0				33						c.(793-795)gaC>gaT		guanylate binding protein 4							114.0	113.0	114.0					1																	89657065		2203	4300	6503	SO:0001819	synonymous_variant	115361	2	121412	34				g.chr1:89657065G>A	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.795C>T	chr1.hg19:g.89657065G>A		1						p.D265D	NM_052941.4	NP_443173.2	0	1	1	1.827221	Q96PP9	GBP4_HUMAN		6	892	-			B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	1	1	hg19	c.795C>T	CCDS721.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.406454	1	0.170000	NM_052941			69	67		313	310	1		1	1		0	0	92	0		1	1	0	36	0	154	0	69	313
GBP5	115362	broad.mit.edu	37	1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000370459.3	-	10	1736	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	537	Required for tetramerization. {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468																																						ENST00000370459.3	1.000000	0.940000	1	9.700000e-01	0.980000	0.988265	0.980000	0.990000																										0				24						c.(1609-1611)Ctg>Atg		guanylate binding protein 5							246.0	210.0	222.0					1																	89727941		2203	4300	6503	SO:0001583	missense	115362	0	0					g.chr1:89727941G>T	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.1609C>A	chr1.hg19:g.89727941G>T	ENSP00000359488:p.Leu537Met	1					GBP5_ENST00000343435.5_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	p.L537M			0	1	1	1.827221	Q96PP8	GBP5_HUMAN		10	1736	-			B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	1	1	hg19	c.1609C>A	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794136	0.31777	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.57595	0.39;0.39	4.86	-6.53	0.01866	4.86	-6.53	0.01866	Guanylate-binding protein, C-terminal (3);	2.711920	0.01238	N	0.008520	T	0.20536	0.0494	L	0.41124	1.26	0.09310	N	1	P	0.44478	0.836	P	0.45577	0.486	T	0.31280	-0.9949	10	0.35671	T	0.21	2.8724	0.2147	0.00160	0.3135:0.2222:0.2393:0.2251	.	537	Q96PP8	GBP5_HUMAN	M	537	ENSP00000340396:L537M;ENSP00000359488:L537M	ENSP00000340396:L537M	L	-	1	2	2	GBP5	89500529	89500529	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.974000	0.03794	-1.049000	0.03234	-0.196000	0.12772	CTG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	0	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_052942			115	114		521	505	1		1	1		0	0	130	0		1	1	0	40	0	267	0	115	521
LRRC8B	23507	broad.mit.edu	37	1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	223					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488																																						ENST00000330947.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.983447	0.980000	0.990000																										0				26						c.(667-669)tCc>tTc		leucine rich repeat containing 8 family, member B							59.0	62.0	61.0					1																	90048877		2203	4300	6503	SO:0001583	missense	23507	0	0					g.chr1:90048877C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.668C>T	chr1.hg19:g.90048877C>T	ENSP00000332674:p.Ser223Phe	1					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	p.S223F	NM_001134476.1	NP_001127948.1	0	1	1	1.827221	Q6P9F7	LRC8B_HUMAN		5	1028	+		all_lung(203;0.17)	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	1	1	hg19	c.668C>T	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724491	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.44542	1.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.56278	0.795	T	0.03597	-1.1021	9	.	.	.	.	19.0782	0.93171	0.0:1.0:0.0:0.0	.	223	Q6P9F7	LRC8B_HUMAN	F	223	ENSP00000332674:S223F;ENSP00000350933:S223F;ENSP00000400704:S223F	.	S	+	2	0	0	LRRC8B	89821465	89821465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.729000	0.68538	2.572000	0.86782	0.655000	0.94253	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_015350			68	68		211	207	1		1	1		0	0	62	0		1	9.991543e-01	0	19	0	17	0	68	211
LRRC8C	84230	broad.mit.edu	37	1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	217					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)				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)		AAGTCCATTCCTGAGAAGTTT	0.453																																						ENST00000370454.4	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.923124	0.930000	0.990000																										0				28						c.(649-651)cCt>cAt		leucine rich repeat containing 8 family, member C							56.0	61.0	59.0					1																	90178779		2203	4300	6503	SO:0001583	missense	84230	0	0					g.chr1:90178779C>A		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.650C>A	chr1.hg19:g.90178779C>A	ENSP00000359483:p.Pro217His	1					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P217H	NM_032270.4	NP_115646	0	1	1	1.827221	Q8TDW0	LRC8C_HUMAN		3	905	+		all_lung(203;0.126)	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	1	1	hg19	c.650C>A	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234785	0.58886	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.01256	-1.1404	10	0.46703	T	0.11	.	20.3501	0.98811	0.0:1.0:0.0:0.0	.	217	Q8TDW0	LRC8C_HUMAN	H	217	ENSP00000359483:P217H	ENSP00000359483:P217H	P	+	2	0	0	LRRC8C	89951367	89951367	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.086000	0.71352	2.807000	0.96579	0.650000	0.86243	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.744777	1	0.170000	NM_032270			35	35		273	271	1		1	1		0	0	58	0		1	9.347890e-01	0	5	0	33	0	35	273
LRRC8C	84230	broad.mit.edu	37	1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	339					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)				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)		ATACCTTATACTGGCTGTTCT	0.388																																						ENST00000370454.4	0.990000	0.600000	9.500000e-01	7.200000e-01	0.840000	0.838301	0.840000	0.890000																										0				28						c.(1015-1017)taC>taA		leucine rich repeat containing 8 family, member C							85.0	71.0	76.0					1																	90179146		2203	4300	6503	SO:0001587	stop_gained	84230	0	0					g.chr1:90179146C>A		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.1017C>A	chr1.hg19:g.90179146C>A	ENSP00000359483:p.Tyr339*	1					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.Y339*	NM_032270.4	NP_115646	0	1	1	1.827221	Q8TDW0	LRC8C_HUMAN		3	1272	+		all_lung(203;0.126)	B3KXS9|Q29RV6|Q9H075	Nonsense_Mutation	SNP	ENST00000370454.4	0	1	hg19	c.1017C>A	CCDS725.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.504666	0.96371	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.86	1.92	0.25849	5.86	1.92	0.25849	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1756	0.37109	0.0:0.6042:0.0:0.3958	.	.	.	.	X	339	.	ENSP00000359483:Y339X	Y	+	3	2	2	LRRC8C	89951734	89951734	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	0.821000	0.34540	0.650000	0.86243	TAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-9.741923	1	0.170000	NM_032270			29	29		313	308	1		1	1		0	0	71	0		1	8.771456e-01	0	5	0	37	0	29	313
LRRC8D	55144	broad.mit.edu	37	1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	93					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)		CCAAGATGGGCGGACAACAAA	0.493																																						ENST00000337338.5	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.954425	0.960000	0.990000																										0				29						c.(277-279)Cgg>Tgg		leucine rich repeat containing 8 family, member D		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	105.0	91.0	96.0		277,277	-1.3	0.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC8D	NM_001134479.1,NM_018103.4	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	93/859,93/859	90398904	1,13005	2203	4300	6503	SO:0001583	missense	55144	4	121410	39				g.chr1:90398904C>T	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.277C>T	chr1.hg19:g.90398904C>T	ENSP00000338887:p.Arg93Trp	1					LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	p.R93W	NM_001134479.1	NP_001127951.1	0	1	1	1.827221	Q7L1W4	LRC8D_HUMAN		3	684	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	1	1	hg19	c.277C>T	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351627	0.11182	0.0	1.16E-4	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.44482	1.49;1.49;0.92	6.07	-1.26	0.09376	6.07	-1.26	0.09376	.	0.859492	0.09801	N	0.754096	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	9	.	.	.	.	0.5437	0.00650	0.2241:0.3021:0.2206:0.2531	.	93	Q7L1W4	LRC8D_HUMAN	W	93	ENSP00000338887:R93W;ENSP00000378093:R93W;ENSP00000405784:R93W	.	R	+	1	2	2	LRRC8D	90171492	90171492	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	0.014000	0.13333	0.138000	0.18790	-0.136000	0.14681	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.393960	1	0.170000	NM_018103			34	33		166	163	1		1	1		0	0	45	0		1	9.999351e-01	0	8	0	68	0	34	166
LRRC8D	55144	broad.mit.edu	37	1	90399281	90399281	+	Silent	SNP	C	C	T	rs532560893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	218					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)		AGACAGCATGCGAAGACTCAG	0.443																																						ENST00000337338.5	1.000000	0.900000	1	9.500000e-01	0.980000	0.977447	0.980000	0.990000																										0				29						c.(652-654)tgC>tgT		leucine rich repeat containing 8 family, member D							60.0	60.0	60.0					1																	90399281		2203	4300	6503	SO:0001819	synonymous_variant	55144	6	121412	37				g.chr1:90399281C>T	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.654C>T	chr1.hg19:g.90399281C>T		1					LRRC8D_ENST00000394593.3_Silent_p.C218C	p.C218C	NM_001134479.1	NP_001127951.1	0	1	1	1.827221	Q7L1W4	LRC8D_HUMAN		3	1061	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	1	1	hg19	c.654C>T	CCDS726.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-3.543519	1	0.170000	NM_018103			59	58		236	229	1		1	1		0	0	62	0		1	9.999986e-01	0	20	0	63	0	59	236
LRRC8D	55144	broad.mit.edu	37	1	90399638	90399638	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	337					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)		GCTTTGAACACGTCTGCAAGC	0.383																																						ENST00000337338.5	1.000000	0.920000	1	9.600000e-01	0.980000	0.984391	0.980000	0.990000																										0				29						c.(1009-1011)caC>caT		leucine rich repeat containing 8 family, member D							93.0	93.0	93.0					1																	90399638		2203	4299	6502	SO:0001819	synonymous_variant	55144	3	121412	37				g.chr1:90399638C>T	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.1011C>T	chr1.hg19:g.90399638C>T		1					LRRC8D_ENST00000394593.3_Silent_p.H337H	p.H337H	NM_001134479.1	NP_001127951.1	0	1	1	1.827221	Q7L1W4	LRC8D_HUMAN		3	1418	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	1	1	hg19	c.1011C>T	CCDS726.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_018103			96	94		468	464	1		1	1		0	0	104	0		1	9.992978e-01	0	13	0	41	0	96	468
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	684					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R684*(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)		GCATTTAAAACGACTGACTTG	0.343																																						ENST00000337338.5	0.980000	0.540000	9.100000e-01	6.500000e-01	0.780000	0.782643	0.780000	0.790000																										1	Substitution - Nonsense(1)	p.R684*(1)	central_nervous_system(1)	29						c.(2050-2052)Cga>Tga		leucine rich repeat containing 8 family, member D							63.0	67.0	66.0					1																	90400677		2203	4299	6502	SO:0001587	stop_gained	55144	0	0					g.chr1:90400677C>T	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.2050C>T	chr1.hg19:g.90400677C>T	ENSP00000338887:p.Arg684*	1					LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	p.R684*	NM_001134479.1	NP_001127951.1	0	1	1	1.827221	Q7L1W4	LRC8D_HUMAN		3	2457	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	0	1	hg19	c.2050C>T	CCDS726.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.678981	0.98428	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	4.01	0.46588	6.07	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4984	0.61438	0.4943:0.5057:0.0:0.0	.	.	.	.	X	684	.	.	R	+	1	2	2	LRRC8D	90173265	90173265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	0.784000	0.33661	0.655000	0.94253	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-8.387971	1	0.170000	NM_018103			27	27		331	326	1		1	1		0	0	74	0		1	9.959058e-01	0	12	0	95	0	27	331
ZNF326	284695	broad.mit.edu	37	1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000340281.4	+	4	274	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.G44E	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	44	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				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)			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)		GGATCCTATGGGGGTCAGAGA	0.423																																						ENST00000340281.4	1.000000	0.900000	1	9.500000e-01	0.980000	0.977499	0.980000	0.990000																										0				25						c.(130-132)gGg>gAg		zinc finger protein 326							119.0	121.0	120.0					1																	90470725		2203	4300	6503	SO:0001583	missense	284695	0	0					g.chr1:90470725G>A	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.131G>A	chr1.hg19:g.90470725G>A	ENSP00000340796:p.Gly44Glu	1					ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.G44E|ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E	p.G44E	NM_182976.2	NP_892021.1	0	1	1	1.827221	Q5BKZ1	ZN326_HUMAN		4	274	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	1	1	hg19	c.131G>A	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250062	0.80024	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65732	0.64;-0.17	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.295538	0.31323	N	0.007841	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70766	-0.4783	10	0.72032	D	0.01	-8.5984	17.2903	0.87154	0.0:0.0:1.0:0.0	.	44;44	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	E	44	ENSP00000340796:G44E;ENSP00000359476:G44E	ENSP00000340796:G44E	G	+	2	0	0	ZNF326	90243313	90243313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.385000	0.73182	2.502000	0.84385	0.453000	0.30009	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.027153	1	0.170000	NM_181781			73	68		378	370	1		1	1		0	0	96	0		1	9.261180e-01	0	5	0	20	0	73	378
BARHL2	343472	broad.mit.edu	37	1	91182141	91182141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCATTTGATGTCGCTCTGGG	0.602																																					GBM(199;3561 4100 22440)	ENST00000370445.4	0.890000	0.350000	7.500000e-01	4.600000e-01	0.590000	0.614160	0.590000	0.590000																										0				24						c.(610-612)gaC>gaT		BarH-like homeobox 2							79.0	68.0	72.0					1																	91182141		2203	4300	6503	SO:0001819	synonymous_variant	343472	0	0					g.chr1:91182141G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.612C>T	chr1.hg19:g.91182141G>A		1						p.D204D	NM_020063.1	NP_064447.1	0	1	1	1.827221	Q9NY43	BARH2_HUMAN		1	653	-		all_lung(203;0.0263)|Lung SC(238;0.128)	A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	1	1	hg19	c.612C>T	CCDS730.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-17.824960	1	0.170000				15	14		251	247	0		1			0	0	45	0		9.998668e-01	0	0	0	0	0	0	15	251
ZNF644	84146	broad.mit.edu	37	1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	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)			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)		TTTTAAGGTATTTGAAAGAAA	0.388																																						ENST00000370440.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.992001	0.990000	0.990000																										0				47						c.(1153-1155)aAt>aGt		zinc finger protein 644							101.0	102.0	101.0					1																	91405757		2203	4300	6503	SO:0001583	missense	84146	0	0					g.chr1:91405757T>C	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.1154A>G	chr1.hg19:g.91405757T>C	ENSP00000359469:p.Asn385Ser	1					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron	p.N385S			0	1	1	1.827221	Q9H582	ZN644_HUMAN		3	1371	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	1	1	hg19	c.1154A>G	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065165	0.20067	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00585	6.39;6.39	5.58	4.45	0.53987	5.58	4.45	0.53987	.	0.334787	0.35936	N	0.002883	T	0.00271	0.0008	L	0.32530	0.975	0.43652	D	0.996066	B	0.10296	0.003	B	0.08055	0.003	T	0.59521	-0.7439	10	0.33141	T	0.24	-6.1922	11.4023	0.49876	0.0:0.0706:0.0:0.9294	.	385	Q9H582	ZN644_HUMAN	S	385	ENSP00000359469:N385S;ENSP00000337008:N385S	ENSP00000337008:N385S	N	-	2	0	0	ZNF644	91178345	91178345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.106000	0.41835	0.958000	0.37956	0.533000	0.62120	AAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_032186			129	128		432	425	1		1	1		0	0	129	0		1	9.971159e-01	0	13	0	19	0	129	432
ZNF644	84146	broad.mit.edu	37	1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	rs145118167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	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)			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)		CATTTTTGATTTATTGGGTAC	0.328																																						ENST00000370440.1	1.000000	0.920000	1	9.500000e-01	0.980000	0.982313	0.980000	0.990000																										0				47						c.(949-951)aAa>aCa		zinc finger protein 644							85.0	86.0	86.0					1																	91405961		2203	4299	6502	SO:0001583	missense	84146	0	0					g.chr1:91405961T>G	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.950A>C	chr1.hg19:g.91405961T>G	ENSP00000359469:p.Lys317Thr	1					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron	p.K317T			0	1	1	1.827221	Q9H582	ZN644_HUMAN		3	1167	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	1	1	hg19	c.950A>C	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673492	0.47781	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00609	6.24;6.24	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.111999	0.64402	D	0.000005	T	0.00328	0.0010	L	0.32530	0.975	0.48696	D	0.999694	B	0.29212	0.237	B	0.22880	0.042	T	0.72151	-0.4377	10	0.48119	T	0.1	-16.216	15.756	0.78025	0.0:0.0:0.0:1.0	.	317	Q9H582	ZN644_HUMAN	T	317	ENSP00000359469:K317T;ENSP00000337008:K317T	ENSP00000337008:K317T	K	-	2	0	0	ZNF644	91178549	91178549	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.699000	0.68310	2.131000	0.65755	0.533000	0.62120	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_032186			69	69		248	246	1		1	1		0	0	80	0		1	9.977937e-01	0	12	0	24	0	69	248
ZNF644	84146	broad.mit.edu	37	1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	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)			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)		GAACAAGATTCTGTTGTTGGC	0.403																																						ENST00000370440.1	1.000000	0.940000	1	9.700000e-01	0.980000	0.988926	0.980000	0.990000																										0				47						c.(448-450)Gaa>Taa		zinc finger protein 644							79.0	78.0	78.0					1																	91406463		2203	4299	6502	SO:0001587	stop_gained	84146	0	0					g.chr1:91406463C>A	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.448G>T	chr1.hg19:g.91406463C>A	ENSP00000359469:p.Glu150*	1					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron	p.E150*			0	1	1	1.827221	Q9H582	ZN644_HUMAN		3	665	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	0	1	hg19	c.448G>T	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528257	0.64860	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.066947	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1133	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000337008:E150X	E	-	1	0	0	ZNF644	91179051	91179051	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.677000	0.68142	2.715000	0.92844	0.655000	0.94253	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_032186			104	102		380	373	1		1	1		0	0	105	0		1	9.977859e-01	0	10	0	26	0	104	380
HFM1	164045	broad.mit.edu	37	1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	997	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		ATCACTATATCTTGTAATCTT	0.303																																						ENST00000370425.3	1.000000	0.690000	9.900000e-01	8.200000e-01	0.920000	0.909991	0.920000	0.990000																										0				75						c.(2989-2991)aGa>aTa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							38.0	39.0	39.0					1																	91781522		2199	4297	6496	SO:0001583	missense	164045	0	0					g.chr1:91781522C>A	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.2990G>T	chr1.hg19:g.91781522C>A	ENSP00000359454:p.Arg997Ile	1					HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I	p.R997I	NM_001017975.3	NP_001017975.3	0	1	1	1.827221	A2PYH4	HFM1_HUMAN		28	3088	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	1	1	hg19	c.2990G>T	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.848|8.848	0.943933|0.943933	0.18281|0.18281	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.57273	.|0.41;0.41;0.41	5.25|5.25	3.37|3.37	0.38596|0.38596	5.25|5.25	3.37|3.37	0.38596|0.38596	.|Sec63 domain (2);	.|0.267631	.|0.35096	.|N	.|0.003455	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999972|0.999972	.|P;D;D	.|0.63880	.|0.943;0.99;0.993	.|B;D;P	.|0.64595	.|0.445;0.927;0.854	T|T	0.56177|0.56177	-0.8022|-0.8022	5|10	.|0.66056	.|D	.|0.02	.|.	5.2022|5.2022	0.15271|0.15271	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	.|676;208;997	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|I	209|997;229;676;681	.|ENSP00000359454:R997I;ENSP00000294696:R229I;ENSP00000359453:R676I	.|ENSP00000294696:R229I	D|R	-|-	1|2	0|0	0|0	HFM1|HFM1	91554110|91554110	91554110|91554110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	2.689000|2.689000	0.46993|0.46993	1.226000|1.226000	0.43582|0.43582	-0.384000|-0.384000	0.06662|0.06662	GAT|AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-3.600225	1	0.170000	NM_001017975			14	14		59	59	1		1			0	0	19	0		9.998565e-01	0	0	0	0	0	0	14	59
HFM1	164045	broad.mit.edu	37	1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000370424.3_Missense_Mutation_p.N182D|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	503					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		TCAGTTTGGTTACTACTGCAG	0.408																																						ENST00000370425.3	1.000000	0.950000	1	9.700000e-01	0.990000	0.992159	0.990000	0.990000																										0				75						c.(1507-1509)Aac>Gac		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							134.0	126.0	129.0					1																	91841173		1858	4095	5953	SO:0001583	missense	164045	0	0					g.chr1:91841173T>C	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.1507A>G	chr1.hg19:g.91841173T>C	ENSP00000359454:p.Asn503Asp	1					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N182D	p.N503D	NM_001017975.3	NP_001017975.3	0	1	1	1.827221	A2PYH4	HFM1_HUMAN		12	1605	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	1	1	hg19	c.1507A>G	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822869	0.32237	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.91237	-0.53;-2.81	5.4	4.2	0.49525	5.4	4.2	0.49525	.	0.000000	0.48767	U	0.000167	T	0.80752	0.4683	M	0.73962	2.25	0.80722	D	1	P;P	0.44627	0.839;0.704	B;B	0.33521	0.118;0.165	T	0.80730	-0.1252	10	0.13853	T	0.58	.	12.0484	0.53493	0.0:0.0:0.1439:0.856	.	182;503	A6NGI5;A2PYH4	.;HFM1_HUMAN	D	503;182;187;536	ENSP00000359454:N503D;ENSP00000359453:N182D	ENSP00000359450:N187D	N	-	1	0	0	HFM1	91613761	91613761	1.000000	0.71417	0.953000	0.39169	0.238000	0.25445	5.046000	0.64226	2.057000	0.61298	0.460000	0.39030	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_001017975			124	123		369	364	1		1	0		0	0	122	0		1	0	0	0	0	1	0	124	369
CDC7	8317	broad.mit.edu	37	1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000234626.6_Missense_Mutation_p.F22S|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	22					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)			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)		CGTGACCGGTTTCAGGCTGAA	0.428																																						ENST00000428239.1	1.000000	0.840000	9.900000e-01	9.100000e-01	0.960000	0.957757	0.960000	0.990000																										0				23						c.(64-66)tTt>tCt		cell division cycle 7							119.0	127.0	124.0					1																	91967338		2203	4300	6503	SO:0001583	missense	8317	0	0					g.chr1:91967338T>C	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.65T>C	chr1.hg19:g.91967338T>C	ENSP00000393139:p.Phe22Ser	1					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S	p.F22S	NM_001134420.1	NP_001127892.1	0	1	1	1.827221	O00311	CDC7_HUMAN		2	324	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	1	1	hg19	c.65T>C	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682364	0.14907	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.49432	0.78;1.01;1.01;2.02	5.42	1.72	0.24424	5.42	1.72	0.24424	.	1.624430	0.02734	N	0.115407	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10405	-1.0631	10	0.22109	T	0.4	-3.2262	2.6492	0.04994	0.1226:0.1499:0.1202:0.6073	.	22;22	B7Z5H7;O00311	.;CDC7_HUMAN	S	22	ENSP00000407477:F22S;ENSP00000234626:F22S;ENSP00000393139:F22S;ENSP00000398077:F22S	ENSP00000234626:F22S	F	+	2	0	0	CDC7	91739926	91739926	0.001000	0.12720	0.151000	0.22473	0.612000	0.37316	0.256000	0.18351	-0.131000	0.11578	-1.431000	0.01090	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_003503			73	72		562	552	1		1	1		0	0	128	0		1	1.477259e-01	0	2	0	4	0	73	562
TGFBR3	7049	broad.mit.edu	37	1	92200439	92200439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000525962.1	-	4	523	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.P154P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	154					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)			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)		CATTTCCATGGGGGAAGTTCC	0.413																																						ENST00000525962.1	1.000000	0.950000	1	9.700000e-01	0.990000	0.992490	0.990000	0.990000																										0				55						c.(460-462)ccC>ccA		transforming growth factor, beta receptor III							164.0	165.0	165.0					1																	92200439		2203	4300	6503	SO:0001819	synonymous_variant	7049	0	0					g.chr1:92200439G>T	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.462C>A	chr1.hg19:g.92200439G>T		1					TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000212355.4_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR	p.P154P			0	1	1	1.827221	Q03167	TGBR3_HUMAN		4	523	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	1	1	hg19	c.462C>A	CCDS30770.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-2.733454	1	0.170000	NM_003243			153	151		627	622	1		1	1		0	0	177	0		1	9.778861e-01	0	13	0	14	0	153	627
BRDT	676	broad.mit.edu	37	1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000362005.3	+	10	1782	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y	BRDT_ENST00000370389.2_Missense_Mutation_p.S382Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	455					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)			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)		AAAGAGAAGTCTAAAAAGGAA	0.323																																						ENST00000362005.3	1.000000	0.670000	9.800000e-01	8.000000e-01	0.910000	0.895916	0.910000	0.990000																										0				56						c.(1363-1365)tCt>tAt		bromodomain, testis-specific							45.0	50.0	48.0					1																	92446276		2200	4295	6495	SO:0001583	missense	676	0	0					g.chr1:92446276C>A	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.1364C>A	chr1.hg19:g.92446276C>A	ENSP00000354568:p.Ser455Tyr	1					BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000370389.2_Missense_Mutation_p.S382Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	p.S455Y	NM_001242805.1	NP_001229734	0	1	1	1.827221	Q58F21	BRDT_HUMAN		10	1782	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	1	1	hg19	c.1364C>A	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656878	0.14580	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.8	4.89	0.63831	5.8	4.89	0.63831	.	0.810877	0.10944	N	0.616858	T	0.08268	0.0206	L	0.51422	1.61	0.26267	N	0.978481	P;P;B;P	0.48162	0.906;0.906;0.048;0.906	P;P;B;P	0.44732	0.459;0.459;0.024;0.459	T	0.21314	-1.0249	10	0.72032	D	0.01	-0.1534	9.7956	0.40733	0.1389:0.7913:0.0:0.0698	.	409;409;459;455	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	455;382;455;455;409;455;455	ENSP00000354568:S455Y;ENSP00000359416:S382Y;ENSP00000387822:S455Y;ENSP00000378038:S409Y;ENSP00000404969:S455Y;ENSP00000384051:S455Y	ENSP00000354568:S455Y	S	+	2	0	0	BRDT	92218864	92218864	0.994000	0.37717	0.097000	0.21041	0.118000	0.20060	2.258000	0.43249	1.457000	0.47850	0.650000	0.86243	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-10.524600	1	0.170000	NM_207189			21	21		158	153	1		1			0	0	82	0		9.999978e-01	0	0	0	0	0	0	21	158
EPHX4	253152	broad.mit.edu	37	1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	248						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4	0.970000	0.350000	8.700000e-01	5.000000e-01	0.680000	0.685675	0.680000	0.680000																										0				12						c.(742-744)gGc>gTc		epoxide hydrolase 4							72.0	67.0	69.0					1																	92518101		2203	4300	6503	SO:0001583	missense	253152	2	121408	31				g.chr1:92518101G>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.743G>T	chr1.hg19:g.92518101G>T	ENSP00000359410:p.Gly248Val	1						p.G248V	NM_173567.4	NP_775838.3	0	1	1	1.827221	Q8IUS5	EPHX4_HUMAN		6	841	+			Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	0	1	hg19	c.743G>T	CCDS736.1	0	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295042	0.81025	.	.	ENSG00000172031	ENST00000370383	T	0.03772	3.81	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.93283	3.4	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.14117	-1.0484	10	0.59425	D	0.04	.	18.4188	0.90582	0.0:0.0:1.0:0.0	.	248	Q8IUS5	EPHX4_HUMAN	V	248	ENSP00000359410:G248V	ENSP00000359410:G248V	G	+	2	0	0	EPHX4	92290689	92290689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	2.343000	0.79666	0.467000	0.42956	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-13.257470	1	0.170000	NM_173567			9	9		124	123	1		1	1		0	0	13	0		9.945488e-01	7.330674e-01	0	9	0	28	0	9	124
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000342818.3	+	3	757	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000370382.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333																																						ENST00000342818.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.977356	0.980000	0.990000																										0				16						c.(520-522)aGa>aAa		BTB (POZ) domain containing 8							71.0	69.0	70.0					1																	92568203		2203	4299	6502	SO:0001583	missense	284697	0	0					g.chr1:92568203G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.521G>A	chr1.hg19:g.92568203G>A	ENSP00000343686:p.Arg174Lys	1					BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K|BTBD8_ENST00000370382.3_Missense_Mutation_p.R174K	p.R174K	NM_183242.3	NP_899065.2	0	1	1	1.827221	Q5XKL5	BTBD8_HUMAN		3	757	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	1	1	hg19	c.521G>A	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306939	0.05458	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62232	2.04;0.04;2.03	5.28	-6.7	0.01766	5.28	-6.7	0.01766	.	1.889290	0.02174	N	0.059959	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06807	-1.0806	10	0.02654	T	1	-16.235	2.599	0.04861	0.4836:0.2246:0.1779:0.114	.	174	Q5XKL5	BTBD8_HUMAN	K	174	ENSP00000359408:R174K;ENSP00000343686:R174K;ENSP00000443397:R174K	ENSP00000343686:R174K	R	+	2	0	0	BTBD8	92340791	92340791	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.200000	0.09478	-0.834000	0.04239	-0.282000	0.10007	AGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.475715	1	0.170000	NM_183242			57	56		217	208	1		1	1		0	0	61	0		1	5.236755e-01	0	4	0	4	0	57	217
GLMN	11146	broad.mit.edu	37	1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	166					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)			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)		CATCCATTTGTATTTGTTCTT	0.373									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3	0.990000	0.570000	9.400000e-01	6.900000e-01	0.820000	0.822034	0.820000	0.870000																										0				17						c.(496-498)atA>atG		glomulin, FKBP associated protein							115.0	111.0	112.0					1																	92754605		2203	4300	6503	SO:0001583	missense	11146	0	0		Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	g.chr1:92754605T>C	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.498A>G	chr1.hg19:g.92754605T>C	ENSP00000359385:p.Ile166Met	1					GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	p.I166M	NM_053274.2	NP_444504.1	0	1	1	1.827221	Q92990	GLMN_HUMAN		6	579	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	1	1	hg19	c.498A>G	CCDS738.1	0	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426002	0.25726	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.43	-1.13	0.09775	5.43	-1.13	0.09775	.	0.202236	0.50627	D	0.000107	T	0.10165	0.0249	L	0.27053	0.805	0.35405	D	0.791937	B;B	0.24186	0.099;0.036	B;B	0.29942	0.109;0.034	T	0.04320	-1.0960	10	0.35671	T	0.21	-6.4651	1.6194	0.02710	0.3124:0.1362:0.0946:0.4568	.	166;166	B4DJ85;Q92990	.;GLMN_HUMAN	M	166	ENSP00000359385:I166M;ENSP00000440156:I166M	ENSP00000359385:I166M	I	-	3	3	3	GLMN	92527193	92527193	0.785000	0.28726	0.994000	0.49952	0.740000	0.42216	-0.237000	0.08990	0.341000	0.23771	0.477000	0.44152	ATA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_007070			25	25		276	275	1		1	1		0	0	63	0		9.999999e-01	5.657503e-01	0	8	0	14	0	25	276
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000610020.1	1.000000	0.700000	9.800000e-01	8.100000e-01	0.900000	0.897557	0.900000	0.990000																										0				22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117.0	115.0	116.0					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871	7	121410	37				g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	chr1.hg19:g.92789302C>T		1					RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	0	1	1	1.827221	Q8IXW5	RPAP2_HUMAN		8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	1	1	hg19	c.825C>T	CCDS740.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-12.999340	1	0.170000	NM_024813			40	40		376	370	1		1	1		0	0	115	0		1	9.948825e-01	0	8	0	70	0	40	376
RPAP2	79871	broad.mit.edu	37	1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	532					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299																																						ENST00000610020.1	1.000000	0.640000	9.700000e-01	7.600000e-01	0.880000	0.870440	0.880000	0.980000																										0				22						c.(1594-1596)cTt>cGt		RNA polymerase II associated protein 2							74.0	79.0	77.0					1																	92801960		2203	4298	6501	SO:0001583	missense	79871	0	0					g.chr1:92801960T>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1595T>G	chr1.hg19:g.92801960T>G	ENSP00000476948:p.Leu532Arg	1						p.L532R	NM_024813.2	NP_079089.2	0	1	1	1.827221	Q8IXW5	RPAP2_HUMAN		10	1704	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	1	1	hg19	c.1595T>G	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092447	0.76756	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.189633	0.47455	D	0.000223	T	0.72293	0.3442	M	0.76002	2.32	0.36136	D	0.846485	D	0.89917	1.0	D	0.71184	0.972	T	0.78411	-0.2214	8	0.87932	D	0	-15.3528	13.4234	0.61011	0.0:0.0:0.0:1.0	.	532	Q8IXW5	RPAP2_HUMAN	R	532	.	ENSP00000359368:L532R	L	+	2	0	0	RPAP2	92574548	92574548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	CTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.299	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_024813			29	29		282	276	0		1	1		0	0	56	0		1	7.673700e-01	0	4	0	25	0	29	282
RPAP2	79871	broad.mit.edu	37	1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	597					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368																																						ENST00000610020.1	1.000000	0.690000	9.700000e-01	8.000000e-01	0.900000	0.891013	0.900000	0.990000																										0				22						c.(1789-1791)gAc>gGc		RNA polymerase II associated protein 2							119.0	119.0	119.0					1																	92846382		2203	4300	6503	SO:0001583	missense	79871	0	0					g.chr1:92846382A>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1790A>G	chr1.hg19:g.92846382A>G	ENSP00000476948:p.Asp597Gly	1						p.D597G	NM_024813.2	NP_079089.2	0	1	1	1.827221	Q8IXW5	RPAP2_HUMAN		12	1899	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	1	1	hg19	c.1790A>G	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928953	0.52759	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.048575	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.37678	D	0.923373	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	8	0.56958	D	0.05	-7.6521	13.5778	0.61885	1.0:0.0:0.0:0.0	.	597	Q8IXW5	RPAP2_HUMAN	G	597	.	ENSP00000359368:D597G	D	+	2	0	0	RPAP2	92618970	92618970	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-12.706240	1	0.170000	NM_024813			37	37		351	349	1		1	1		0	0	91	0		1	5.872199e-01	0	6	0	14	0	37	351
EVI5	7813	broad.mit.edu	37	1	93089889	93089889	+	Silent	SNP	G	G	A	rs201748980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93089889G>A	ENST00000370331.1	-	14	1632	c.1623C>T	c.(1621-1623)cgC>cgT	p.R541R	EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	541	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			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)		GAGCTAAGTGGCGCTAAAGCA	0.368																																						ENST00000370331.1	0.600000	0.140000	4.700000e-01	2.200000e-01	0.330000	0.354010	0.330000	0.310000																										0				38						c.(1621-1623)cgC>cgT		ecotropic viral integration site 5							86.0	75.0	79.0					1																	93089889		2203	4300	6503	SO:0001819	synonymous_variant	7813	0	0					g.chr1:93089889G>A	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.1623C>T	chr1.hg19:g.93089889G>A		1					EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.R541R	p.R541R	NM_005665.4	NP_005656.4	0	1	1	1.827221	O60447	EVI5_HUMAN		14	1632	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	0	1	hg19	c.1623C>T	CCDS30774.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	0	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-8.681697	1	0.170000	NM_005665			7	5		224	220	0		1	1		0	0	55	0		9.791990e-01	5.138560e-01	0	4	0	48	0	7	224
FAM69A	388650	broad.mit.edu	37	1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		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	25						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				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)		TATTTCATCCGCACATATGAG	0.383																																						ENST00000370310.4	1.000000	0.670000	9.800000e-01	8.000000e-01	0.910000	0.896713	0.910000	0.990000																										0				4						c.(73-75)Cgg>Tgg		family with sequence similarity 69, member A							77.0	75.0	76.0					1																	93341969		1877	4103	5980	SO:0001583	missense	388650	2	120812	31				g.chr1:93341969G>A	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.73C>T	chr1.hg19:g.93341969G>A	ENSP00000359333:p.Arg25Trp	1						p.R25W	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	0	1	1	1.827221	Q5T7M9	FA69A_HUMAN		2	143	-		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	1	1	hg19	c.73C>T	CCDS44173.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604616	0.87157	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.59	4.66	0.58398	5.59	4.66	0.58398	.	0.057952	0.64402	D	0.000002	T	0.54078	0.1836	L	0.52573	1.65	0.50467	D	0.999871	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.74674	0.849;0.849;0.984	T	0.61058	-0.7139	10	0.72032	D	0.01	-11.1064	15.6626	0.77199	0.0:0.0:0.8617:0.1383	.	18;25;25	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	W	25	ENSP00000359333:R25W	ENSP00000359333:R25W	R	-	1	2	2	FAM69A	93114557	93114557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.519000	0.81809	1.440000	0.47531	0.655000	0.94253	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.222937	1	0.170000	NM_001006605			21	20		157	151	1		1	0		0	0	34	0		9.999975e-01	9.580492e-01	0	1	0	41	0	21	157
MTF2	22823	broad.mit.edu	37	1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000471953.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	276					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)			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)		TGCCTTTACAACCTAAGTGTT	0.343																																						ENST00000370298.4	1.000000	0.900000	1	9.400000e-01	0.970000	0.976283	0.970000	0.990000																										0				19						c.(826-828)aAc>aCc		metal response element binding transcription factor 2							140.0	141.0	140.0					1																	93586135		2203	4300	6503	SO:0001583	missense	22823	0	0					g.chr1:93586135A>C	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.827A>C	chr1.hg19:g.93586135A>C	ENSP00000359321:p.Asn276Thr	1					MTF2_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T	p.N276T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	0	1	1	1.827221	Q9Y483	MTF2_HUMAN		9	1116	+		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)	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	1	1	hg19	c.827A>C	CCDS742.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710211	0.89018	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.83312	2.635	0.80722	D	1	P;D	0.56968	0.931;0.978	P;P	0.58013	0.766;0.831	T	0.21586	-1.0241	10	0.72032	D	0.01	-5.9945	16.2484	0.82467	1.0:0.0:0.0:0.0	.	276;276	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	174;174;276;174;276	ENSP00000444962:N174T;ENSP00000443295:N174T;ENSP00000359321:N276T;ENSP00000359326:N276T	ENSP00000359321:N276T	N	+	2	0	0	MTF2	93358723	93358723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.057000	0.93889	2.291000	0.77112	0.533000	0.62120	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_007358			60	59		263	259	1		1	1		0	0	57	0		1	9.916336e-01	0	5	0	30	0	60	263
CCDC18	343099	broad.mit.edu	37	1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000421014.2_Intron|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	832										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)		AAAACAAAGGGAAAGTTCAGC	0.328																																						ENST00000343253.7	1.000000	0.710000	9.800000e-01	8.200000e-01	0.920000	0.909372	0.920000	0.990000																										0				42						c.(2494-2496)Gaa>Aaa		coiled-coil domain containing 18							90.0	83.0	85.0					1																	93701841		1833	4083	5916	SO:0001583	missense	343099	0	0					g.chr1:93701841G>A			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.2494G>A	chr1.hg19:g.93701841G>A	ENSP00000343377:p.Glu832Lys	1					CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K	p.E832K			0	1	1	1.827221	Q5T9S5	CCD18_HUMAN		19	2996	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	1	1	hg19	c.2494G>A		1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469612	0.84533	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T	0.69435	-0.4	4.57	4.57	0.56435	4.57	4.57	0.56435	.	0.272209	0.34386	N	0.004008	T	0.58163	0.2103	N	0.22421	0.69	0.36801	D	0.885378	P;D	0.61697	0.939;0.99	P;P	0.57911	0.503;0.829	T	0.60146	-0.7320	10	0.36615	T	0.2	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	832;951	Q5T9S5;G3V388	CCD18_HUMAN;.	K	832;833;951;588;128;508	ENSP00000334084:E128K	ENSP00000334084:E128K	E	+	1	0	0	CCDC18	93474429	93474429	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.191000	0.72063	2.485000	0.83878	0.650000	0.86243	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-12.324600	1	0.170000	NM_206886			29	28		231	229	1		1	0		0	0	48	0		1	6.850340e-02	0	0	0	4	0	29	231
FNBP1L	54874	broad.mit.edu	37	1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000271234.7	+	8	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	225	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323																																						ENST00000271234.7	1.000000	0.610000	9.700000e-01	7.500000e-01	0.880000	0.867219	0.880000	0.990000																										0				11						c.(673-675)aAa>aCa		formin binding protein 1-like							80.0	72.0	74.0					1																	93998513		1831	4096	5927	SO:0001583	missense	54874	0	0					g.chr1:93998513A>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.674A>C	chr1.hg19:g.93998513A>C	ENSP00000271234:p.Lys225Thr	1					FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T	p.K225T	NM_001164473.2	NP_001157945.1	0	1	1	1.827221	Q5T0N5	FBP1L_HUMAN		8	825	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	1	1	hg19	c.674A>C	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595502	0.86953	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.865	D;D;B	0.87578	0.994;0.998;0.408	T	0.03739	-1.1008	10	0.36615	T	0.2	-19.1227	15.7725	0.78180	1.0:0.0:0.0:0.0	.	45;225;225	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	225;225;225;225;92	ENSP00000359278:K225T;ENSP00000271234:K225T;ENSP00000260506:K225T;ENSP00000359275:K225T	ENSP00000260506:K225T	K	+	2	0	0	FNBP1L	93771101	93771101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.131000	0.65755	0.482000	0.46254	AAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-19.999960	1	0.170000	NM_017737			16	16		128	125	1		1	1		0	0	29	0		9.999414e-01	9.998380e-01	0	22	0	102	0	16	128
FNBP1L	54874	broad.mit.edu	37	1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000271234.7	+	8	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	234	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328																																						ENST00000271234.7	1.000000	0.600000	9.700000e-01	7.500000e-01	0.880000	0.863926	0.880000	0.990000																										0				11						c.(700-702)gCt>gAt		formin binding protein 1-like							84.0	79.0	81.0					1																	93998540		1849	4105	5954	SO:0001583	missense	54874	0	0					g.chr1:93998540C>A		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.701C>A	chr1.hg19:g.93998540C>A	ENSP00000271234:p.Ala234Asp	1					FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D	p.A234D	NM_001164473.2	NP_001157945.1	0	1	1	1.827221	Q5T0N5	FBP1L_HUMAN		8	852	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	1	1	hg19	c.701C>A	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.87578	0.997;0.998;0.82	T	0.37150	-0.9718	10	0.72032	D	0.01	-25.113	19.8206	0.96591	0.0:1.0:0.0:0.0	.	54;234;234	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	D	234;234;234;234;101	ENSP00000359278:A234D;ENSP00000271234:A234D;ENSP00000260506:A234D;ENSP00000359275:A234D	ENSP00000260506:A234D	A	+	2	0	0	FNBP1L	93771128	93771128	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.252000	0.78309	2.686000	0.91538	0.591000	0.81541	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-3.222322	1	0.170000	NM_017737			17	17		143	142	1		1	1		0	0	34	0		9.999728e-01	9.998292e-01	0	23	0	105	0	17	143
BCAR3	8412	broad.mit.edu	37	1	94140364	94140364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	41					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562																																						ENST00000370244.1	1.000000	0.890000	1	9.400000e-01	0.970000	0.975027	0.970000	0.990000																										0				25						c.(121-123)gcC>gcA		breast cancer anti-estrogen resistance 3							77.0	70.0	72.0					1																	94140364		2203	4300	6503	SO:0001819	synonymous_variant	8412	0	0					g.chr1:94140364G>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.123C>A	chr1.hg19:g.94140364G>T		1					BCAR3_ENST00000260502.6_Silent_p.A41A|BCAR3_ENST00000370243.1_Silent_p.A41A	p.A41A	NM_001261408.1	NP_001248337.1	0	1	1	1.827221	O75815	BCAR3_HUMAN		4	411	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	1	1	hg19	c.123C>A	CCDS745.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				48	46		157	156	1		1	1		0	0	42	0		1	9.940631e-01	0	10	0	19	0	48	157
DNTTIP2	30836	broad.mit.edu	37	1	94342258	94342258	+	Silent	SNP	G	G	A	rs544151323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)		CACTGTTCATGTCTTCACTGA	0.398																																						ENST00000436063.2	1.000000	0.970000	1	9.800000e-01	0.990000	0.996363	0.990000	1.000000																										0				38						c.(1231-1233)gaC>gaT		deoxynucleotidyltransferase, terminal, interacting protein 2							268.0	260.0	263.0					1																	94342258		1991	4152	6143	SO:0001819	synonymous_variant	30836	0	0					g.chr1:94342258G>A	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.1233C>T	chr1.hg19:g.94342258G>A		1					DNTTIP2_ENST00000460191.1_5'UTR	p.D411D	NM_014597.4	NP_055412.2	0	1	1	1.827221	Q5QJE6	TDIF2_HUMAN		2	1290	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	1	1	hg19	c.1233C>T	CCDS44174.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	1	0	1		2	2	2	0		0	0	213		213	213	1	2.060000	-20.000000	1	0.170000	NM_014597			230	225		731	711	0		1	1		0	0	213	0		1	1	0	100	0	159	0	230	731
GCLM	2730	broad.mit.edu	37	1	94354716	94354716	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94354716C>A	ENST00000370238.3	-	7	902		c.e7-1			NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit						apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	GAAAGCAGTTCTAAAAGAAAC	0.408																																						ENST00000370238.3	1.000000	0.570000	9.700000e-01	7.300000e-01	0.870000	0.855927	0.870000	0.990000																										0				10						c.e7-1		glutamate-cysteine ligase, modifier subunit	L-Cysteine(DB00151)						25.0	26.0	26.0					1																	94354716		2203	4299	6502	SO:0001630	splice_region_variant	2730	0	0					g.chr1:94354716C>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.656-1G>T	chr1.hg19:g.94354716C>A		1							NM_002061.2	NP_002052.1	0	1	1	1.827221	P48507	GSH0_HUMAN		7	902	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Splice_Site	SNP	ENST00000370238.3	0	1	hg19		CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001447	0.54254	.	.	ENSG00000023909	ENST00000370238	.	.	.	5.33	4.42	0.53409	5.33	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9411	0.64054	0.0:0.9264:0.0:0.0736	.	.	.	.	.	-1	.	.	.	-	.	.	.	GCLM	94127304	94127304	1.000000	0.71417	0.987000	0.45799	0.728000	0.41692	7.334000	0.79224	1.255000	0.44051	-0.229000	0.12294	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.977060	1	0.170000	NM_002061	Intron		13	13		100	100	0		1	1		0	0	24	0		9.996416e-01	1.188304e-01	0	4	0	1	0	13	100
ABCA4	24	broad.mit.edu	37	1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2046	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)		CCTTTTCGATTTCTTCTGCTG	0.433																																						ENST00000370225.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.986616	0.980000	0.990000																										0				147						c.(6136-6138)gaA>gaC		ATP-binding cassette, sub-family A (ABC1), member 4							116.0	114.0	114.0					1																	94471006		2203	4300	6503	SO:0001583	missense	24	0	0					g.chr1:94471006T>G	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.6138A>C	chr1.hg19:g.94471006T>G	ENSP00000359245:p.Glu2046Asp	1					ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D	p.E2046D	NM_000350.2	NP_000341.2	0	1	1	1.827221	P78363	ABCA4_HUMAN		44	6224	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	1	1	hg19	c.6138A>C	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209488	0.09757	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.94376	-3.41;-3.41;-3.41	5.63	1.82	0.25136	5.63	1.82	0.25136	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.153113	0.56097	D	0.000022	T	0.72112	0.3420	N	0.20766	0.605	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.003;0.02	T	0.62618	-0.6816	10	0.12103	T	0.63	.	4.9251	0.13889	0.1166:0.0655:0.1216:0.6963	.	165;2046	B4DX12;P78363	.;ABCA4_HUMAN	D	838;2046;316;165	ENSP00000359245:E2046D;ENSP00000439707:E316D;ENSP00000443203:E165D	ENSP00000359245:E2046D	E	-	3	2	2	ABCA4	94243594	94243594	1.000000	0.71417	0.912000	0.35992	0.186000	0.23388	1.500000	0.35682	0.500000	0.27991	0.533000	0.62120	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_000350			93	92		367	360	1		1	0		0	0	114	0		1	4.156736e-02	0	1	0	1	0	93	367
ABCA4	24	broad.mit.edu	37	1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	952	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)		TCGTAGAAGGTGATGTTCAGA	0.547																																						ENST00000370225.3	1.000000	0.820000	9.900000e-01	8.900000e-01	0.950000	0.944263	0.950000	0.990000																										0				147						c.(2854-2856)Acc>Gcc		ATP-binding cassette, sub-family A (ABC1), member 4							154.0	157.0	156.0					1																	94512539		2203	4300	6503	SO:0001583	missense	24	0	0					g.chr1:94512539T>C	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.2854A>G	chr1.hg19:g.94512539T>C	ENSP00000359245:p.Thr952Ala	1					ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	p.T952A	NM_000350.2	NP_000341.2	0	1	1	1.827221	P78363	ABCA4_HUMAN		19	2940	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	1	1	hg19	c.2854A>G	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682285	0.68042	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94092	-3.35;-2.87	5.62	5.62	0.85841	5.62	5.62	0.85841	ABC transporter-like (1);	0.193028	0.56097	D	0.000039	D	0.84120	0.5402	N	0.21142	0.635	0.28085	N	0.932033	B;B	0.33940	0.433;0.001	B;B	0.35182	0.197;0.006	T	0.82200	-0.0575	10	0.72032	D	0.01	.	15.8271	0.78718	0.0:0.0:0.0:1.0	.	878;952	F5H6E5;P78363	.;ABCA4_HUMAN	A	952;878	ENSP00000359245:T952A;ENSP00000437682:T878A	ENSP00000359245:T952A	T	-	1	0	0	ABCA4	94285127	94285127	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.148000	0.71788	2.149000	0.67028	0.533000	0.62120	ACC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	0	1		15	2	2	2		2	1	224		224	220	1	2.060000	-20.000000	1	0.170000	NM_000350			89	87		799	784	0		1			2	0	224	0		1	0	0	0	0	0	0	89	799
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	893					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)			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)		TTTTCCAGGGCTCTTTCTTCT	0.532																																						ENST00000370225.3	1.000000	0.700000	9.800000e-01	8.200000e-01	0.920000	0.906594	0.920000	0.990000																										0				147						c.(2677-2679)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							136.0	123.0	127.0					1																	94514490		2203	4300	6503	SO:0001583	missense	24	0	0					g.chr1:94514490C>T	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.2677G>A	chr1.hg19:g.94514490C>T	ENSP00000359245:p.Ala893Thr	1					ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	p.A893T	NM_000350.2	NP_000341.2	0	1	1	1.827221	P78363	ABCA4_HUMAN		18	2763	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	1	1	hg19	c.2677G>A	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178708	0.38511	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91792	-2.79;-2.91	5.35	4.42	0.53409	5.35	4.42	0.53409	.	1.078010	0.07078	N	0.836569	D	0.87434	0.6176	L	0.36672	1.1	0.22940	N	0.998535	D;B	0.58268	0.982;0.001	P;B	0.55615	0.78;0.005	T	0.76719	-0.2856	10	0.20519	T	0.43	.	9.2755	0.37696	0.0:0.9035:0.0:0.0965	.	819;893	F5H6E5;P78363	.;ABCA4_HUMAN	T	893;819	ENSP00000359245:A893T;ENSP00000437682:A819T	ENSP00000359245:A893T	A	-	1	0	0	ABCA4	94287078	94287078	0.030000	0.19436	1.000000	0.80357	0.960000	0.62799	0.969000	0.29370	2.642000	0.89623	0.655000	0.94253	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-12.216560	1	0.170000	NM_000350			28	28		224	220	1		1			0	0	56	0		1	0	0	0	0	0	0	28	224
ABCA4	24	broad.mit.edu	37	1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					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)			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)		TCCTGCCAGGCGAAGCACAGG	0.582																																						ENST00000370225.3	1.000000	0.780000	9.900000e-01	8.700000e-01	0.950000	0.939094	0.950000	0.990000																										0				147						c.(2341-2343)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							70.0	59.0	63.0					1																	94522198		2203	4300	6503	SO:0001583	missense	24	3	121412	37				g.chr1:94522198C>T	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.2341G>A	chr1.hg19:g.94522198C>T	ENSP00000359245:p.Ala781Thr	1					ABCA4_ENST00000535735.1_Intron	p.A781T	NM_000350.2	NP_000341.2	0	1	1	1.827221	P78363	ABCA4_HUMAN		15	2427	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	1	1	hg19	c.2341G>A	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.685822	0.96784	.	.	ENSG00000198691	ENST00000370225	T	0.77750	-1.12	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.70176	0.3194	M	0.64630	1.985	0.80722	D	1	B	0.34329	0.449	B	0.35470	0.203	T	0.70938	-0.4736	10	0.36615	T	0.2	.	19.4483	0.94857	0.0:1.0:0.0:0.0	.	781	P78363	ABCA4_HUMAN	T	781	ENSP00000359245:A781T	ENSP00000359245:A781T	A	-	1	0	0	ABCA4	94294786	94294786	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	3.270000	0.51600	2.673000	0.90976	0.561000	0.74099	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_000350			25	25		124	121	1		1			0	0	43	0		9.999999e-01	0	0	0	0	0	0	25	124
ABCA4	24	broad.mit.edu	37	1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	634					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)			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)		CATCTGCTGGAGGTAGATTCC	0.592																																						ENST00000370225.3	0.720000	0.210000	5.700000e-01	3.000000e-01	0.420000	0.445851	0.420000	0.410000																										0				147						c.(1900-1902)cTc>cCc		ATP-binding cassette, sub-family A (ABC1), member 4							75.0	73.0	74.0					1																	94528169		2203	4300	6503	SO:0001583	missense	24	0	0					g.chr1:94528169A>G	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.1901T>C	chr1.hg19:g.94528169A>G	ENSP00000359245:p.Leu634Pro	1					ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	p.L634P	NM_000350.2	NP_000341.2	0	1	1	1.827221	P78363	ABCA4_HUMAN		13	1987	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	1	1	hg19	c.1901T>C	CCDS747.1	0	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537521	0.85917	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89552	-2.53;-2.53	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.167184	0.41823	D	0.000818	D	0.94006	0.8080	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.596	D;B	0.72075	0.976;0.324	D	0.95079	0.8211	10	0.87932	D	0	.	14.7803	0.69760	1.0:0.0:0.0:0.0	.	634;634	F5H6E5;P78363	.;ABCA4_HUMAN	P	634	ENSP00000359245:L634P;ENSP00000437682:L634P	ENSP00000359245:L634P	L	-	2	0	0	ABCA4	94300757	94300757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.037000	0.93765	2.079000	0.62486	0.459000	0.35465	CTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-11.007090	1	0.170000	NM_000350			9	9		220	213	0		1	0		0	0	53	0		9.936458e-01	0	0	0	0	1	0	9	220
ARHGAP29	9411	broad.mit.edu	37	1	94639786	94639786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94639786C>T	ENST00000260526.6	-	23	3607	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1142					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)			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)		ATCTGAAGACCGTCTCTCAGA	0.498																																						ENST00000260526.6	0.520000	0.180000	4.300000e-01	2.500000e-01	0.330000	0.345758	0.330000	0.320000																										0				54						c.(3424-3426)cGg>cAg		Rho GTPase activating protein 29							140.0	126.0	131.0					1																	94639786		2203	4300	6503	SO:0001583	missense	9411	6	121412	42				g.chr1:94639786C>T		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.3425G>A	chr1.hg19:g.94639786C>T	ENSP00000260526:p.Arg1142Gln	1					ARHGAP29_ENST00000482481.1_5'Flank	p.R1142Q	NM_004815.3	NP_004806.3	0	1	1	1.827221	Q52LW3	RHG29_HUMAN		23	3607	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	1	1	hg19	c.3425G>A	CCDS748.1	0	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137876	0.21123	.	.	ENSG00000137962	ENST00000260526	T	0.21734	1.99	5.49	4.58	0.56647	5.49	4.58	0.56647	.	0.460547	0.16094	N	0.229933	T	0.06917	0.0176	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.08055	0.003	T	0.10405	-1.0631	10	0.37606	T	0.19	-1.3531	4.8628	0.13592	0.0:0.5952:0.162:0.2428	.	1142	Q52LW3	RHG29_HUMAN	Q	1142	ENSP00000260526:R1142Q	ENSP00000260526:R1142Q	R	-	2	0	0	ARHGAP29	94412374	94412374	0.985000	0.35326	0.982000	0.44146	0.058000	0.15608	1.674000	0.37544	1.333000	0.45449	0.591000	0.81541	CGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	0	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-2.390303	0	0.170000	NM_004815			14	14		441	435	0		1	1		0	0	96	0		9.997387e-01	6.983278e-01	0	2	0	74	0	14	441
ARHGAP29	9411	broad.mit.edu	37	1	94643259	94643259	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	938					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)			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)		TGCTTTCACTCTCTGAAGTAT	0.333																																						ENST00000260526.6	1.000000	0.600000	9.600000e-01	7.300000e-01	0.860000	0.850676	0.860000	0.950000																										0				54						c.(2812-2814)gaG>gaA		Rho GTPase activating protein 29							114.0	107.0	110.0					1																	94643259		2203	4300	6503	SO:0001819	synonymous_variant	9411	0	0					g.chr1:94643259C>T		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.2814G>A	chr1.hg19:g.94643259C>T		1					ARHGAP29_ENST00000482481.1_5'UTR	p.E938E	NM_004815.3	NP_004806.3	0	1	1	1.827221	Q52LW3	RHG29_HUMAN		22	2996	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	1	1	hg19	c.2814G>A	CCDS748.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-2.744763	1	0.170000	NM_004815			23	23		228	226	1		1	1		0	0	49	0		9.999995e-01	9.751517e-01	0	5	0	57	0	23	228
ARHGAP29	9411	broad.mit.edu	37	1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	924					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)			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)		AAATAGTGACTTCATGGAACG	0.323																																						ENST00000260526.6	1.000000	0.900000	1	9.500000e-01	0.980000	0.978087	0.980000	0.990000																										0				54						c.(2770-2772)aAg>aTg		Rho GTPase activating protein 29							67.0	70.0	69.0					1																	94643433		2203	4300	6503	SO:0001583	missense	9411	0	0					g.chr1:94643433T>A		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.2771A>T	chr1.hg19:g.94643433T>A	ENSP00000260526:p.Lys924Met	1					ARHGAP29_ENST00000482481.1_5'UTR	p.K924M	NM_004815.3	NP_004806.3	0	1	1	1.827221	Q52LW3	RHG29_HUMAN		21	2953	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	1	1	hg19	c.2771A>T	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283999	0.59867	.	.	ENSG00000137962	ENST00000260526	T	0.26660	1.72	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.40469	N	0.001092	T	0.37376	0.1001	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.17471	-1.0368	10	0.62326	D	0.03	-18.0172	16.008	0.80377	0.0:0.0:0.0:1.0	.	924;924	F8VWZ8;Q52LW3	.;RHG29_HUMAN	M	924	ENSP00000260526:K924M	ENSP00000260526:K924M	K	-	2	0	0	ARHGAP29	94416021	94416021	1.000000	0.71417	0.368000	0.25939	0.537000	0.34900	6.199000	0.72112	2.250000	0.74265	0.533000	0.62120	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_004815			58	57		216	210	1		1	1		0	0	55	0		1	9.998254e-01	0	15	0	36	0	58	216
ARHGAP29	9411	broad.mit.edu	37	1	94668169	94668169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	358					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)			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)		TTGCTAATCCGCCACTTGAAG	0.373																																						ENST00000260526.6	1.000000	0.950000	1	9.700000e-01	0.990000	0.991690	0.990000	0.990000																										0				54						c.(1072-1074)ggC>ggT		Rho GTPase activating protein 29							143.0	135.0	138.0					1																	94668169		2203	4300	6503	SO:0001819	synonymous_variant	9411	0	0					g.chr1:94668169G>A		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.1074C>T	chr1.hg19:g.94668169G>A		1					ARHGAP29_ENST00000370217.3_Silent_p.G358G	p.G358G	NM_004815.3	NP_004806.3	0	1	1	1.827221	Q52LW3	RHG29_HUMAN		11	1256	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	1	1	hg19	c.1074C>T	CCDS748.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-3.952695	1	0.170000	NM_004815			133	129		497	491	1		1	1		0	0	98	0		1	9.990929e-01	0	7	0	34	0	133	497
ARHGAP29	9411	broad.mit.edu	37	1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	200					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)			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)		AGTCAGTGTTCTTTAACAGCA	0.338																																						ENST00000260526.6	0.900000	0.300000	7.600000e-01	4.200000e-01	0.570000	0.593115	0.570000	0.560000																										0				54						c.(598-600)aaG>aaT		Rho GTPase activating protein 29							74.0	72.0	73.0					1																	94670714		2202	4300	6502	SO:0001583	missense	9411	0	0					g.chr1:94670714C>A		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.600G>T	chr1.hg19:g.94670714C>A	ENSP00000260526:p.Lys200Asn	1					ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	p.K200N	NM_004815.3	NP_004806.3	0	1	1	1.827221	Q52LW3	RHG29_HUMAN		7	782	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	1	1	hg19	c.600G>T	CCDS748.1	0	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615885	0.46631	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.23950	1.91;1.88	5.87	2.99	0.34606	5.87	2.99	0.34606	.	0.000000	0.40385	N	0.001118	T	0.17789	0.0427	L	0.46157	1.445	0.35628	D	0.810027	P;B	0.51933	0.949;0.23	P;B	0.49192	0.602;0.131	T	0.03212	-1.1060	10	0.72032	D	0.01	-24.0817	11.4447	0.50116	0.0:0.7044:0.0:0.2956	.	200;200	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	N	200	ENSP00000260526:K200N;ENSP00000359237:K200N	ENSP00000260526:K200N	K	-	3	2	2	ARHGAP29	94443302	94443302	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.221000	0.32503	0.956000	0.37904	0.655000	0.94253	AAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-13.130070	1	0.170000	NM_004815			10	10		174	168	0		1	0		0	0	44	0		9.965975e-01	7.399221e-01	0	0	0	47	0	10	174
ABCD3	5825	broad.mit.edu	37	1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	389					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313																																						ENST00000370214.4	1.000000	0.870000	1	9.300000e-01	0.970000	0.969820	0.970000	0.990000																										0				26						c.(1165-1167)gCt>gAt		ATP-binding cassette, sub-family D (ALD), member 3							59.0	59.0	59.0					1																	94955289		2203	4300	6503	SO:0001583	missense	5825	0	0					g.chr1:94955289C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1166C>A	chr1.hg19:g.94955289C>A	ENSP00000359233:p.Ala389Asp	1					ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D	p.A389D	NM_002858.3	NP_002849.1	0	1	1	1.827221	P28288	ABCD3_HUMAN		14	1190	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	1	1	hg19	c.1166C>A	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203575	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.97710	-3.44;-4.5;-4.5;-4.5	5.74	5.74	0.90152	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);	0.051119	0.85682	D	0.000000	D	0.98015	0.9346	M	0.66506	2.035	0.80722	D	1	P;D;P	0.63046	0.913;0.992;0.751	B;P;B	0.57101	0.382;0.813;0.382	D	0.98364	1.0550	10	0.72032	D	0.01	-15.5917	19.9326	0.97124	0.0:1.0:0.0:0.0	.	413;279;389	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	279;413;316;389	ENSP00000377780:A279D;ENSP00000403357:A413D;ENSP00000440692:A316D;ENSP00000359233:A389D	ENSP00000359233:A389D	A	+	2	0	0	ABCD3	94727877	94727877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_002858			39	40		120	119	1		1	1		0	0	35	0		1	1	0	39	0	72	0	39	120
ABCD3	5825	broad.mit.edu	37	1	94965137	94965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000394233.2_Silent_p.D459D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	569	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438																																						ENST00000370214.4	1.000000	0.790000	9.900000e-01	8.800000e-01	0.950000	0.940642	0.950000	0.990000																										0				26						c.(1705-1707)gaC>gaT		ATP-binding cassette, sub-family D (ALD), member 3							178.0	147.0	157.0					1																	94965137		2203	4300	6503	SO:0001819	synonymous_variant	5825	0	0					g.chr1:94965137C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1707C>T	chr1.hg19:g.94965137C>T		1					ABCD3_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000536817.1_Silent_p.D496D	p.D569D	NM_002858.3	NP_002849.1	0	1	1	1.827221	P28288	ABCD3_HUMAN		20	1731	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	1	1	hg19	c.1707C>T	CCDS749.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-17.679390	1	0.170000	NM_002858			45	45		337	331	1		1	1		0	0	82	0		1	9.999995e-01	0	35	0	130	0	45	337
CNN3	1266	broad.mit.edu	37	1	95363358	95363358	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000538964.1_Silent_p.G310G|CNN3_ENST00000394202.4_Silent_p.G264G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	310	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428																																						ENST00000370206.4	0.880000	0.510000	7.900000e-01	5.900000e-01	0.680000	0.694390	0.680000	0.680000																										0				18						c.(928-930)ggC>ggT		calponin 3, acidic							265.0	231.0	242.0					1																	95363358		2203	4300	6503	SO:0001819	synonymous_variant	1266	0	0					g.chr1:95363358G>A	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.930C>T	chr1.hg19:g.95363358G>A		1					CNN3_ENST00000538964.1_Silent_p.G310G|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000487539.1_5'Flank	p.G310G	NM_001839.3	NP_001830.1	0	1	1	1.827221	Q15417	CNN3_HUMAN		7	1313	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	1	1	hg19	c.930C>T	CCDS30775.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	1	0	1		2	2	2	0		0	0	194		194	194	1	2.060000	-3.318791	1	0.170000	NM_001839			48	48		699	680	0		1	1		0	0	194	0		1	1	0	5	0	552	0	48	699
CNN3	1266	broad.mit.edu	37	1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	33	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458																																						ENST00000370206.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.981253	0.980000	0.990000																										0				18						c.(97-99)cGc>cAc		calponin 3, acidic							114.0	105.0	108.0					1																	95369040		2203	4300	6503	SO:0001583	missense	1266	4	121412	36				g.chr1:95369040C>T	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.98G>A	chr1.hg19:g.95369040C>T	ENSP00000359225:p.Arg33His	1					CNN3_ENST00000538964.1_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000487539.1_5'Flank	p.R33H	NM_001839.3	NP_001830.1	0	1	1	1.827221	Q15417	CNN3_HUMAN		2	481	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	1	1	hg19	c.98G>A	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302712	0.81136	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.87758	2.905	0.80722	D	1	P;D	0.71674	0.877;0.998	B;D	0.80764	0.302;0.994	D	0.97032	0.9751	10	0.52906	T	0.07	-12.6225	20.1649	0.98147	0.0:1.0:0.0:0.0	.	33;33	F8WA86;Q15417	.;CNN3_HUMAN	H	33	ENSP00000359225:R33H;ENSP00000437665:R33H;ENSP00000377752:R33H	ENSP00000359225:R33H	R	-	2	0	0	CNN3	95141628	95141628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.753000	0.94483	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.333602	1	0.170000	NM_001839			71	68		291	288	1		1	1		0	0	72	0		1	1	0	52	0	497	0	71	291
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370198.1_Silent_p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28					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)			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)		TCAGTAGTCCGAACTCTAATA	0.348																																						ENST00000426398.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.993925	0.990000	1.000000																										0				26						c.(82-84)ccG>ccA		polypyrimidine tract binding protein 2							228.0	217.0	221.0					1																	97217025		2203	4300	6503	SO:0001819	synonymous_variant	58155	0	0					g.chr1:97217025G>A	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.84G>A	chr1.hg19:g.97217025G>A		1					PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P	p.P28P	NM_021190.2	NP_067013.1	0	1	1	1.827221	Q9UKA9	PTBP2_HUMAN		3	127	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	1	1	hg19	c.84G>A	CCDS754.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1	1	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-20.000000	1	0.170000				170	169		636	631	1		1	1		0	0	178	0		1	7.936858e-01	0	4	0	9	0	170	636
DPYD	1806	broad.mit.edu	37	1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	879					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)			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)	ATAAGGTCCAAAACTTGGCAG	0.323																																						ENST00000370192.3	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.937799	0.940000	0.990000																										0				83						c.(2635-2637)tTt>tCt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)						86.0	83.0	84.0					1																	97564175		2203	4300	6503	SO:0001583	missense	1806	0	0					g.chr1:97564175A>G	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.2636T>C	chr1.hg19:g.97564175A>G	ENSP00000359211:p.Phe879Ser	1					DPYD-AS1_ENST00000422980.1_RNA	p.F879S	NM_000110.3	NP_000101	0	1	1	1.827221	Q12882	DPYD_HUMAN		21	2736	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	1	1	hg19	c.2636T>C	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197189	0.79015	.	.	ENSG00000188641	ENST00000370192	D	0.89810	-2.57	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-20.0261	14.7536	0.69546	1.0:0.0:0.0:0.0	.	879	Q12882	DPYD_HUMAN	S	879	ENSP00000359211:F879S	ENSP00000359211:F879S	F	-	2	0	0	DPYD	97336763	97336763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.285000	0.76669	0.482000	0.46254	TTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_000110			31	30		193	188	1		1	1		0	0	31	0		1	9.999999e-01	0	16	0	154	0	31	193
DPYD	1806	broad.mit.edu	37	1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	rs145548112	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	721					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)			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)	GCAGCTCTTGCGATGCTCACA	0.458													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.0					ENST00000370192.3	1.000000	0.970000	1	9.800000e-01	0.990000	0.995332	0.990000	1.000000																										0				83						c.(2161-2163)Gca>Aca		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	C	THR/ALA	0,4406		0,0,2203	210.0	211.0	211.0		2161	6.1	1.0	1	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DPYD	NM_000110.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	721/1026	97771751	1,13005	2203	4300	6503	SO:0001583	missense	1806	15	121412	48				g.chr1:97771751C>T	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.2161G>A	chr1.hg19:g.97771751C>T	ENSP00000359211:p.Ala721Thr	1					DPYD-AS1_ENST00000422980.1_RNA	p.A721T	NM_000110.3	NP_000101	0	1	1	1.827221	Q12882	DPYD_HUMAN		17	2261	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	1	1	hg19	c.2161G>A	CCDS30777.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622629	0.87460	0.0	1.16E-4	ENSG00000188641	ENST00000370192	T	0.81078	-1.45	6.08	6.08	0.98989	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95223	0.8335	10	0.87932	D	0	-19.2961	20.6721	0.99693	0.0:1.0:0.0:0.0	.	721	Q12882	DPYD_HUMAN	T	721	ENSP00000359211:A721T	ENSP00000359211:A721T	A	-	1	0	0	DPYD	97544339	97544339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.894000	0.99253	0.591000	0.81541	GCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	1		2	2	2	0		0	0	278		278	276	1	2.060000	-20.000000	1	0.170000	NM_000110			210	208		799	783	0		1	1		0	0	278	0		1	1	0	18	0	116	0	210	799
SNX7	51375	broad.mit.edu	37	1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000306121.3	+	5	680	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_ENST00000370189.5_Missense_Mutation_p.G160V|SNX7_ENST00000529992.1_Missense_Mutation_p.G169V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	160					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408																																						ENST00000306121.3	0.970000	0.500000	8.900000e-01	6.200000e-01	0.750000	0.757199	0.750000	0.760000																										0				13						c.(670-672)gGc>gTc		sorting nexin 7							59.0	68.0	65.0					1																	99161105		2203	4300	6503	SO:0001583	missense	51375	0	0					g.chr1:99161105G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.671G>T	chr1.hg19:g.99161105G>T	ENSP00000304429:p.Gly224Val	1					SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000370189.5_Missense_Mutation_p.G160V	p.G224V	NM_015976.4	NP_057060.2	0	1	1	1.827221	Q9UNH6	SNX7_HUMAN		5	680	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	1	1	hg19	c.671G>T	CCDS755.2	0	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087998	0.76642	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.38722	1.23;1.88;1.12	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.340418	0.35013	N	0.003511	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.981;0.974	T	0.60296	-0.7291	10	0.66056	D	0.02	-34.4901	20.1041	0.97884	0.0:0.0:1.0:0.0	.	169;224;160	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	160;169;224	ENSP00000359208:G160V;ENSP00000434731:G169V;ENSP00000304429:G224V	ENSP00000304429:G224V	G	+	2	0	0	SNX7	98933693	98933693	1.000000	0.71417	0.917000	0.36280	0.399000	0.30720	9.778000	0.99011	2.826000	0.97356	0.655000	0.94253	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-7.247670	1	0.170000				23	22		294	286	1		1	1		0	0	82	0		9.999993e-01	9.984445e-01	0	26	0	106	0	23	294
SNX7	51375	broad.mit.edu	37	1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000306121.3	+	5	773	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_ENST00000370189.5_Missense_Mutation_p.N191T|SNX7_ENST00000529992.1_Missense_Mutation_p.N200T	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383																																						ENST00000306121.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.980314	0.980000	0.990000																										0				13						c.(763-765)aAc>aCc		sorting nexin 7							46.0	56.0	53.0					1																	99161198		2203	4300	6503	SO:0001583	missense	51375	0	0					g.chr1:99161198A>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.764A>C	chr1.hg19:g.99161198A>C	ENSP00000304429:p.Asn255Thr	1					SNX7_ENST00000529992.1_Missense_Mutation_p.N200T|SNX7_ENST00000370189.5_Missense_Mutation_p.N191T	p.N255T	NM_015976.4	NP_057060.2	0	1	1	1.827221	Q9UNH6	SNX7_HUMAN		5	773	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	1	1	hg19	c.764A>C	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275549	0.40294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21031	2.03;2.03;2.03	5.65	3.29	0.37713	5.65	3.29	0.37713	.	0.577696	0.20020	N	0.100928	T	0.04227	0.0117	N	0.14661	0.345	0.27522	N	0.951357	B;B;B	0.31351	0.32;0.217;0.053	B;B;B	0.34991	0.193;0.138;0.062	T	0.40572	-0.9556	10	0.26408	T	0.33	-8.4051	8.6247	0.33881	0.8021:0.1305:0.0674:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	T	191;200;255	ENSP00000359208:N191T;ENSP00000434731:N200T;ENSP00000304429:N255T	ENSP00000304429:N255T	N	+	2	0	0	SNX7	98933786	98933786	0.991000	0.36638	0.988000	0.46212	0.884000	0.51177	3.117000	0.50407	0.483000	0.27608	-0.323000	0.08544	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.383	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				67	67		269	268	1		1	1		0	0	85	0		1	9.999997e-01	0	37	0	55	0	67	269
PLPPR5	163404	broad.mit.edu	37	1	99470004	99470004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	ENST00000263177.4	-	1	445	c.224T>C	c.(223-225)gTc>gCc	p.V75A	LPPR5_ENST00000370188.3_Missense_Mutation_p.V75A|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		75						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GAGCACGGGGACCCCGGCGGC	0.726																																						ENST00000263177.4	0.990000	0.480000	9.500000e-01	6.500000e-01	0.820000	0.805526	0.820000	0.990000																										0										c.(223-225)gTc>gCc									14.0	15.0	15.0					1																	99470004		2196	4288	6484	SO:0001583	missense	0	0	0					g.chr1:99470004A>G																												ENST00000263177.4:c.224T>C	chr1.hg19:g.99470004A>G	ENSP00000263177:p.Val75Ala	1					RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR|LPPR5_ENST00000370188.3_Missense_Mutation_p.V75A	p.V75A	NM_001037317.1	NP_001032394.1	0	1	1	1.827221	Q32ZL2	LPPR5_HUMAN		1	445	-			A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	0	1	hg19	c.224T>C	CCDS30778.1	0	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447927	0.63178	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.30981	1.51;1.51	5.17	4.0	0.46444	5.17	4.0	0.46444	.	0.124209	0.53938	D	0.000055	T	0.09992	0.0245	N	0.21583	0.68	0.44061	D	0.996809	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.04855	-1.0922	10	0.56958	D	0.05	.	10.9157	0.47135	0.8422:0.1578:0.0:0.0	.	75;75	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	A	75	ENSP00000359207:V75A;ENSP00000263177:V75A	ENSP00000263177:V75A	V	-	2	0	0	AL161744.1	99242592	99242592	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.053000	0.93860	0.750000	0.32877	0.459000	0.35465	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.726	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.924180	1	0.170000				10	10		91	91	0		1			0	0	19	0		9.973644e-01	0	0	0	0	0	0	10	91
PLPPR4	9890	broad.mit.edu	37	1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		368					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448																																						ENST00000370185.3	1.000000	0.730000	9.800000e-01	8.300000e-01	0.920000	0.911979	0.920000	0.990000																										0				72						c.(1102-1104)gGa>gAa									120.0	116.0	117.0					1																	99771377		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:99771377G>A																												ENST00000370185.3:c.1103G>A	chr1.hg19:g.99771377G>A	ENSP00000359204:p.Gly368Glu	1					LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	p.G368E	NM_014839.4	NP_055654.2	0	1	1	1.827221	Q7Z2D5	LPPR4_HUMAN		7	1600	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	1	1	hg19	c.1103G>A	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584365	0.00872	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.20069	2.68;2.71;2.1	5.62	5.62	0.85841	5.62	5.62	0.85841	.	1.058360	0.07212	N	0.859466	T	0.10937	0.0267	N	0.12182	0.205	0.44562	D	0.997521	P;B	0.49783	0.928;0.276	P;B	0.47573	0.55;0.142	T	0.19160	-1.0314	9	.	.	.	-21.9674	15.9536	0.79861	0.0:0.1349:0.8651:0.0	.	310;368	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	368;310;368;210	ENSP00000359204:G368E;ENSP00000394913:G310E;ENSP00000359203:G210E	.	G	+	2	0	0	RP4-788L13.1	99543965	99543965	1.000000	0.71417	0.997000	0.53966	0.152000	0.21847	5.988000	0.70579	2.633000	0.89246	0.655000	0.94253	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.221883	1	0.170000				45	45		408	399	0		1	0		0	0	108	0		1	2.296524e-01	0	0	0	9	0	45	408
PLPPR4	9890	broad.mit.edu	37	1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498																																						ENST00000370185.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.977993	0.980000	0.990000																										0				72						c.(1252-1254)cCg>cTg									55.0	56.0	56.0					1																	99771527		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr1:99771527C>T																												ENST00000370185.3:c.1253C>T	chr1.hg19:g.99771527C>T	ENSP00000359204:p.Pro418Leu	1					LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	p.P418L	NM_014839.4	NP_055654.2	0	1	1	1.827221	Q7Z2D5	LPPR4_HUMAN		7	1750	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	1	1	hg19	c.1253C>T	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	0	RP4-788L13.1	99544115	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	1		16	3	2	1		1	1	67		67	65	1	2.060000	-3.600584	1	0.170000				61	61		248	240	0		1	0		1	0	67	0		1	6.813580e-01	0	0	0	17	0	61	248
PGBD2	267002	broad.mit.edu	37	1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A	rs372043364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000329291.5	+	3	1454	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	PGBD2_ENST00000355360.4_Missense_Mutation_p.R185H|PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	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;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552																																						ENST00000329291.5			0	0																														0				14						c.(1306-1308)cGt>cAt		piggyBac transposable element derived 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	74.0	79.0		1307,554	1.5	0.0	1		79	0,8600		0,0,4300	no	missense,missense	PGBD2	NM_170725.2,NM_001017434.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	436/593,185/342	249212090	1,13005	2203	4300	6503	SO:0001583	missense	267002	10	121412	41				g.chr1:249212090G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1307G>A	chr1.hg19:g.249212090G>A	ENSP00000331643:p.Arg436His						PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000355360.4_Missense_Mutation_p.R185H	p.R436H	NM_170725.2	NP_733843.1					Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	3	1454	+	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;0.012)	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	1	1	hg19	c.1307G>A	CCDS31128.1		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451934	0.01080	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.20200	2.09;2.09;2.09	3.58	1.47	0.22746	3.58	1.47	0.22746	.	0.477093	0.15029	N	0.284560	T	0.18759	0.0450	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.23797	-1.0178	10	0.27785	T	0.31	-5.3232	6.2778	0.20991	0.223:0.0:0.777:0.0	.	433;436	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	185;436;433	ENSP00000355424:R185H;ENSP00000331643:R436H;ENSP00000439950:R433H	ENSP00000331643:R436H	R	+	2	0	0	PGBD2	247178713	247178713	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.181000	0.16880	0.217000	0.20800	0.467000	0.42956	CGT			TCGA-IB-7651-01A-11D-2154-08	0.552	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				27	27		232	229	1		1	1		0	0	38	0		1	8.563831e-01	0	4	0	28	0	27	232
JAG1	182	broad.mit.edu	37	20	10620604	10620604	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						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)			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						ACAAGGAAATCTGTAAGGCAG	0.488									Alagille Syndrome																													ENST00000254958.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				44						c.e26-1		jagged 1							30.0	26.0	28.0					20																	10620604		2203	4300	6503	SO:0001630	splice_region_variant	182	0	0		Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr20:10620604C>A	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.3200-1G>T	chr20.hg19:g.10620604C>A		0					JAG1_ENST00000423891.2_Splice_Site		NM_000214.2	NP_000205.1	1	2	3	1.995265	P78504	JAG1_HUMAN		26	3715	-			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Splice_Site	SNP	ENST00000254958.5	1	1	hg19		CCDS13112.1	1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094210	0.56075	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	JAG1	10568604	10568604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_000214	Intron		27	26		132	128	1		1	1		0	0	40	0		1	6.739799e-01	0	12	0	1	0	27	132
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	rs371970750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552																																						ENST00000335877.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(610-612)Cgg>Tgg		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	225.0	233.0	230.0		610,610	5.9	1.0	20		230	0,8600		0,0,4300	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/272,204/272	1144966	1,13005	2203	4300	6503	SO:0001583	missense	9491	2	121412	41				g.chr20:1144966C>T	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.610C>T	chr20.hg19:g.1144966C>T	ENSP00000338039:p.Arg204Trp	0					PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W	p.R204W	NM_006814.3	NP_006805.2	1	2	3	1.995265	Q92530	PSMF1_HUMAN		6	786	+			A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	1	1	hg19	c.610C>T	CCDS13010.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	2|0	PSMF1|PSMF1	1092966|1092966	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	1	0	1		2	2	2	0		0	0	284		284	283	1	2.060000	-20.000000	1	0.170000	NM_178578			264	257		1193	1166	1		1	1		0	0	284	0		1	1	0	183	0	469	0	264	1193
SNPH	9751	broad.mit.edu	37	20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381873.3	+	6	1395	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SNPH_ENST00000381867.1_Missense_Mutation_p.R431W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	387					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)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACCCCACAGCGGCCTGGTGC	0.657																																						ENST00000381873.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1159-1161)Cgg>Tgg		syntaphilin							25.0	26.0	26.0					20																	1286372		2203	4295	6498	SO:0001583	missense	9751	7	121286	37				g.chr20:1286372C>T		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.1159C>T	chr20.hg19:g.1286372C>T	ENSP00000371297:p.Arg387Trp	0					SNPH_ENST00000381867.1_Missense_Mutation_p.R431W	p.R387W	NM_014723.2	NP_055538.2	1	2	3	1.995265	O15079	SNPH_HUMAN		6	1395	+			Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	1	1	hg19	c.1159C>T	CCDS13012.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459210	0.43634	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	3.96	0.45880	4.95	3.96	0.45880	.	1.804140	0.02557	N	0.096337	T	0.20251	0.0487	N	0.14661	0.345	0.18873	N	0.999989	D;P	0.54772	0.968;0.947	B;B	0.40101	0.319;0.319	T	0.18493	-1.0335	9	0.72032	D	0.01	-1.9986	5.3483	0.16022	0.1378:0.6267:0.15:0.0855	.	431;387	O15079-2;O15079	.;SNPH_HUMAN	W	387;431	.	ENSP00000371291:R431W	R	+	1	2	2	SNPH	1234372	1234372	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	0.420000	0.21263	2.572000	0.86782	0.561000	0.74099	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_014723			34	34		122	122	1		1	0		0	0	27	0		1	2.163568e-01	0	0	0	4	0	34	122
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	T	rs202075581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					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)			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						CAGCAATCAGCGAGCTGTTTC	0.448									Alagille Syndrome				C|||	4	0.000798722	0.0	0.0	5008	,	,		20009	0.004		0.0	False		,,,				2504	0.0					ENST00000254958.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3139-3141)tcG>tcA		jagged 1							113.0	100.0	104.0					20																	10621489		2203	4300	6503	SO:0001819	synonymous_variant	182	13	121412	41	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr20:10621489C>T	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.3141G>A	chr20.hg19:g.10621489C>T		0					JAG1_ENST00000423891.2_Silent_p.S888S	p.S1047S	NM_000214.2	NP_000205.1	1	2	3	1.995265	P78504	JAG1_HUMAN		25	3656	-			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	1	1	hg19	c.3141G>A	CCDS13112.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.775232	1	0.170000	NM_000214			77	75		295	291	1		1	1		0	0	66	0		1	1	0	141	0	175	0	77	295
SPTLC3	55304	broad.mit.edu	37	20	13140662	13140662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	476					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)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CTTTTGCAAGGCATATGCTAG	0.423																																						ENST00000399002.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1426-1428)agG>agA		serine palmitoyltransferase, long chain base subunit 3							80.0	81.0	81.0					20																	13140662		1798	4080	5878	SO:0001819	synonymous_variant	55304	0	0					g.chr20:13140662G>A	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.1428G>A	chr20.hg19:g.13140662G>A		0					SPTLC3_ENST00000378194.4_3'UTR	p.R476R	NM_018327.2	NP_060797.2	1	2	3	1.995265	Q9NUV7	SPTC3_HUMAN		11	1702	+			A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	1	1	hg19	c.1428G>A	CCDS13115.2	1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663322	0.14710	.	.	ENSG00000172296	ENST00000431275	.	.	.	5.84	-2.71	0.05986	5.84	-2.71	0.05986	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-19.6967	12.6826	0.56930	0.7065:0.0:0.2935:0.0	.	.	.	.	D	74	.	.	G	+	2	0	0	SPTLC3	13088662	13088662	0.246000	0.23909	0.499000	0.27577	0.783000	0.44284	-0.119000	0.10676	-0.325000	0.08577	-0.768000	0.03414	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	1	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-20.000000	1	0.170000	NM_018327			84	84		433	419	1		1	0		0	0	121	0		1	5.567896e-01	0	1	0	10	0	84	433
SPTLC3	55304	broad.mit.edu	37	20	13140767	13140767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140767G>T	ENST00000399002.2	+	11	1807	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	511					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)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATACCCGGGAGATGTTAGACA	0.522																																						ENST00000399002.2	1.000000	0.100000	3.700000e-01	1.600000e-01	0.250000	0.294768	0.250000	0.230000																										0				25						c.(1531-1533)gaG>gaT		serine palmitoyltransferase, long chain base subunit 3							70.0	72.0	72.0					20																	13140767		1916	4136	6052	SO:0001583	missense	55304	0	0					g.chr20:13140767G>T	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.1533G>T	chr20.hg19:g.13140767G>T	ENSP00000381968:p.Glu511Asp	0					SPTLC3_ENST00000378194.4_3'UTR	p.E511D	NM_018327.2	NP_060797.2	1	2	3	1.995265	Q9NUV7	SPTC3_HUMAN		11	1807	+			A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	0	1	hg19	c.1533G>T	CCDS13115.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748193|2.748193	0.49257|0.49257	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.95690|.	-3.78|.	5.77|5.77	2.32|2.32	0.28847|0.28847	5.77|5.77	2.32|2.32	0.28847|0.28847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.144611|.	0.64402|.	D|.	0.000009|.	T|T	0.57770|0.57770	0.2076|0.2076	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.30664|.	0.289|.	B|.	0.40477|.	0.33|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.51188|.	T|.	0.08|.	-18.9757|-18.9757	6.9744|6.9744	0.24666|0.24666	0.2129:0.0:0.6567:0.1303|0.2129:0.0:0.6567:0.1303	.|.	511|.	Q9NUV7|.	SPTC3_HUMAN|.	D|I	511|109	ENSP00000381968:E511D|.	ENSP00000381968:E511D|.	E|R	+|+	3|2	2|0	2|0	SPTLC3|SPTLC3	13088767|13088767	13088767|13088767	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.942000|0.942000	0.58702|0.58702	1.695000|1.695000	0.37763|0.37763	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GAG|AGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	0	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-7.252917	1	0.170000	NM_018327			7	7		350	346	0		1	0		0	0	74	0		9.800697e-01	2.164627e-02	0	0	0	10	0	7	350
FKBP1A	2280	broad.mit.edu	37	20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000460490.1_5'Flank|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	78	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488																																						ENST00000400137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(232-234)tCt>tAt		FK506 binding protein 1A, 12kDa	Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)						73.0	63.0	66.0					20																	1352850		2203	4300	6503	SO:0001583	missense	2280	0	0					g.chr20:1352850G>T	M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"""calstabin 1"""	186945	"""FK506-binding protein 1A (12kD)"""	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.233C>A	chr20.hg19:g.1352850G>T	ENSP00000383003:p.Ser78Tyr	0					FKBP1A_ENST00000460490.1_5'Flank|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y	p.S78Y	NM_000801.4	NP_000792.1	1	2	3	1.995265	P62942	FKB1A_HUMAN		4	396	-			D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	Missense_Mutation	SNP	ENST00000400137.4	1	1	hg19	c.233C>A	CCDS13014.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760296	0.89932	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.8	4.8	0.61643	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000015	T	0.65913	0.2737	.	.	.	0.58432	D	0.999998	D;D	0.61080	0.976;0.989	D;D	0.67548	0.937;0.952	T	0.70626	-0.4820	9	0.87932	D	0	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	62;78	Q1JUQ5;P62942	.;FKB1A_HUMAN	Y	78;73;78;73;62	ENSP00000383003:S78Y;ENSP00000371143:S73Y;ENSP00000371138:S78Y;ENSP00000371134:S73Y;ENSP00000409863:S62Y	ENSP00000371134:S73Y	S	-	2	0	0	FKBP1A	1300850	1300850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	2.661000	0.90470	0.650000	0.86243	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2	1	0	1		2	2	2	0		0	0	63		63	69	1	2.060000	-20.000000	1	0.170000				55	55		254	250	1		1	1		0	0	63	0		1	1	0	105	0	530	0	55	254
ISM1	140862	broad.mit.edu	37	20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	331	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582																																						ENST00000262487.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(991-993)Gcc>Acc		isthmin 1, angiogenesis inhibitor							46.0	53.0	51.0					20																	13279702		2120	4239	6359	SO:0001583	missense	140862	0	0					g.chr20:13279702G>A	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.991G>A	chr20.hg19:g.13279702G>A	ENSP00000262487:p.Ala331Thr	0					TASP1_ENST00000539805.1_Intron	p.A331T	NM_080826.1	NP_543016.1	1	2	3	1.995265	B1AKI9	ISM1_HUMAN		6	997	+			Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	1	1	hg19	c.991G>A	CCDS46579.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491755	0.84962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.83	5.88	5.88	0.94601	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61969	-0.6953	10	0.59425	D	0.04	-24.2273	20.2133	0.98290	0.0:0.0:1.0:0.0	.	331	B1AKI9	ISM1_HUMAN	T	331;285	ENSP00000262487:A331T;ENSP00000409938:A285T	ENSP00000262487:A331T	A	+	1	0	0	ISM1	13227702	13227702	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				30	30		103	99	1		1	0		0	0	30	0		1	1	0	0	0	151	0	30	103
TASP1	55617	broad.mit.edu	37	20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	152					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGCTTGCCCTTCTGCCCTT	0.423																																						ENST00000337743.4	1.000000	0.160000	4.200000e-01	2.200000e-01	0.300000	0.348535	0.300000	0.290000																										0				31						c.(454-456)aaG>aaT		taspase, threonine aspartase, 1							128.0	123.0	125.0					20																	13561576		2203	4300	6503	SO:0001583	missense	55617	0	0					g.chr20:13561576C>A	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.456G>T	chr20.hg19:g.13561576C>A	ENSP00000338624:p.Lys152Asn	0					TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	p.K152N	NM_017714.2	NP_060184.2	1	2	3	1.995265	Q9H6P5	TASP1_HUMAN		6	576	-			B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	1	1	hg19	c.456G>T	CCDS13116.1	0	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056304	0.36277	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.93307	-3.2;-2.97	5.73	3.79	0.43588	5.73	3.79	0.43588	.	0.041485	0.85682	D	0.000000	D	0.86887	0.6041	L	0.29908	0.895	0.80722	D	1	B;B	0.24132	0.098;0.061	B;B	0.25759	0.046;0.063	T	0.81477	-0.0915	10	0.30854	T	0.27	-13.0612	7.8134	0.29245	0.0:0.661:0.0:0.339	.	152;129	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	129;152;129	ENSP00000338624:K152N;ENSP00000400580:K129N	ENSP00000338624:K152N	K	-	3	2	2	TASP1	13509576	13509576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.413000	0.46997	0.655000	0.94253	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	0	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-2.200096	0	0.170000	NM_017714			12	12		467	458	0		1	1		0	0	100	0		9.990303e-01	3.410533e-01	0	3	0	42	0	12	467
ESF1	51575	broad.mit.edu	37	20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	766	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363																																						ENST00000202816.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2296-2298)tAc>tCc		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							96.0	99.0	98.0					20																	13695780		2203	4300	6503	SO:0001583	missense	51575	0	0					g.chr20:13695780T>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2297A>C	chr20.hg19:g.13695780T>G	ENSP00000202816:p.Tyr766Ser	0						p.Y766S	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	1	2	3	1.995265	Q9H501	ESF1_HUMAN		14	2404	-			Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	1	1	hg19	c.2297A>C	CCDS13117.1	1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696584	0.68386	.	.	ENSG00000089048	ENST00000202816	T	0.27557	1.66	6.05	6.05	0.98169	6.05	6.05	0.98169	NUC153 (1);	0.074024	0.56097	D	0.000028	T	0.57460	0.2055	M	0.82823	2.61	0.44736	D	0.99773	D	0.76494	0.999	D	0.75020	0.985	T	0.63129	-0.6706	10	0.72032	D	0.01	0.2465	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	766	Q9H501	ESF1_HUMAN	S	766	ENSP00000202816:Y766S	ENSP00000202816:Y766S	Y	-	2	0	0	ESF1	13643780	13643780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.320000	0.78422	0.528000	0.53228	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_016649			101	99		378	374	1		1	1		0	0	78	0		1	9.999999e-01	0	24	0	63	0	101	378
ESF1	51575	broad.mit.edu	37	20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	709	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CATAAGCAAAGCCATTTCAGC	0.398																																						ENST00000202816.1	1.000000	0.400000	7.800000e-01	5.000000e-01	0.620000	0.646702	0.620000	0.610000																										0				31						c.(2125-2127)gCt>gAt		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							137.0	122.0	127.0					20																	13698151		2203	4300	6503	SO:0001583	missense	51575	0	0					g.chr20:13698151G>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2126C>A	chr20.hg19:g.13698151G>T	ENSP00000202816:p.Ala709Asp	0						p.A709D	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	1	2	3	1.995265	Q9H501	ESF1_HUMAN		13	2233	-			Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	1	1	hg19	c.2126C>A	CCDS13117.1	0	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908977	0.52439	.	.	ENSG00000089048	ENST00000202816	T	0.24538	1.85	5.87	4.92	0.64577	5.87	4.92	0.64577	.	0.394143	0.25971	N	0.027123	T	0.33933	0.0880	M	0.74258	2.255	0.44234	D	0.997073	P	0.46706	0.883	B	0.41571	0.36	T	0.27088	-1.0084	10	0.39692	T	0.17	1.9035	17.0563	0.86534	0.0:0.1273:0.8727:0.0	.	709	Q9H501	ESF1_HUMAN	D	709	ENSP00000202816:A709D	ENSP00000202816:A709D	A	-	2	0	0	ESF1	13646151	13646151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.566000	0.67372	1.616000	0.50265	0.655000	0.94253	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	0	0	1		19	6	2	1		1	1	78		78	77	1	2.060000	-3.314673	1	0.170000	NM_016649			23	23		421	409	0		1	0		1	0	78	0		7.552911e-01	2.448962e-01	0	5	0	72	0	23	421
ESF1	51575	broad.mit.edu	37	20	13714488	13714488	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	610	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289																																						ENST00000202816.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1828-1830)ggT>ggG		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							135.0	139.0	137.0					20																	13714488		2203	4299	6502	SO:0001630	splice_region_variant	51575	0	0					g.chr20:13714488A>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1829-1T>G	chr20.hg19:g.13714488A>C		0						p.G610G	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	1	2	3	1.995265	Q9H501	ESF1_HUMAN		10	1937	-			Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Splice_Site	SNP	ENST00000202816.1	1	0	hg19	c.1830T>G	CCDS13117.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_016649	Silent		101	95		474	467	1		1	1		0	0	90	0		1	9.999997e-01	0	28	0	73	0	101	474
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458																																						ENST00000284951.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1894-1896)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							113.0	110.0	111.0					20																	13830889		1988	4163	6151	SO:0001583	missense	80343	0	0					g.chr20:13830889G>A	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.1895C>T	chr20.hg19:g.13830889G>A	ENSP00000284951:p.Ala632Val	0					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V	p.A632V			1	2	3	1.995265	Q5TEA6	SE1L2_HUMAN		19	1969	-			B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	1	1	hg19	c.1895C>T		1	.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	0	SEL1L2	13778889	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.259601	1	0.170000	NM_025229			73	71		286	282	1		1	0		0	0	70	0		1	0	0	0	0	1	0	73	286
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A	rs372260139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral component of membrane (GO:0016021)		p.S227L(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						ATTGATTCCCGACAAATATCT	0.303																																						ENST00000284951.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S227L(1)	large_intestine(1)	51						c.(679-681)tCg>tTg		sel-1 suppressor of lin-12-like 2 (C. elegans)		G	LEU/SER	1,3661		0,1,1830	131.0	127.0	128.0		680	5.7	1.0	20		128	0,8160		0,0,4080	no	missense	SEL1L2	NM_025229.1	145	0,1,5910	AA,AG,GG		0.0,0.0273,0.0085	possibly-damaging	227/689	13868480	1,11821	1831	4080	5911	SO:0001583	missense	80343	5	120796	38				g.chr20:13868480G>A	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.680C>T	chr20.hg19:g.13868480G>A	ENSP00000284951:p.Ser227Leu	0					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L	p.S227L			1	2	3	1.995265	Q5TEA6	SE1L2_HUMAN		8	754	-			B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	1	1	hg19	c.680C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	0	SEL1L2	13816480	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_025229			89	88		429	421	1		1			0	0	122	0		1	0	0	0	0	0	0	89	429
SEL1L2	80343	broad.mit.edu	37	20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	211						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTCCTCCAGCACTTCCAAA	0.343																																						ENST00000284951.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				51						c.(631-633)gCt>gAt		sel-1 suppressor of lin-12-like 2 (C. elegans)							68.0	63.0	65.0					20																	13868619		1824	4082	5906	SO:0001583	missense	80343	0	0					g.chr20:13868619G>T	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.632C>A	chr20.hg19:g.13868619G>T	ENSP00000284951:p.Ala211Asp	0					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D	p.A211D			1	2	3	1.995265	Q5TEA6	SE1L2_HUMAN		7	706	-			B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	1	1	hg19	c.632C>A		1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851123	0.71719	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.44083	0.93;0.93	5.58	4.63	0.57726	5.58	4.63	0.57726	Tetratricopeptide-like helical (1);	0.470461	0.19972	N	0.101948	T	0.41282	0.1152	N	0.17723	0.515	0.35851	D	0.826768	D;D	0.69078	0.982;0.997	P;D	0.67548	0.796;0.952	T	0.25328	-1.0135	10	0.12430	T	0.62	-6.6926	9.3908	0.38372	0.0946:0.0:0.9054:0.0	.	211;211	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	211	ENSP00000367312:A211D;ENSP00000284951:A211D	ENSP00000284951:A211D	A	-	2	0	0	SEL1L2	13816619	13816619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.615000	0.88500	0.650000	0.86243	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-19.706530	1	0.170000	NM_025229			37	37		187	181	1		1			0	0	61	0		1	0	0	0	0	0	0	37	187
SEL1L2	80343	broad.mit.edu	37	20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	195						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264																																						ENST00000284951.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999732	0.990000	1.000000																										0				51						c.(583-585)Atg>Gtg		sel-1 suppressor of lin-12-like 2 (C. elegans)							53.0	48.0	50.0					20																	13869125		1803	4064	5867	SO:0001583	missense	80343	0	0					g.chr20:13869125T>C	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.583A>G	chr20.hg19:g.13869125T>C	ENSP00000284951:p.Met195Val	0					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V	p.M195V			1	2	3	1.995265	Q5TEA6	SE1L2_HUMAN		6	657	-			B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	1	1	hg19	c.583A>G		1	.	.	.	.	.	.	.	.	.	.	T	1.073	-0.669328	0.03403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.41065	1.01;1.01	5.7	3.43	0.39272	5.7	3.43	0.39272	Tetratricopeptide-like helical (1);	0.219927	0.41500	N	0.000872	T	0.10981	0.0268	N	0.00793	-1.18	0.31497	N	0.665227	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-8.1736	6.8787	0.24160	0.0:0.1789:0.0:0.8211	.	195;195	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	195	ENSP00000367312:M195V;ENSP00000284951:M195V	ENSP00000284951:M195V	M	-	1	0	0	SEL1L2	13817125	13817125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.975000	0.38392	0.528000	0.53228	ATG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_025229			13	12		46	45	1		1			0	0	29	0		9.996700e-01	0	0	0	0	0	0	13	46
NSFL1C	55968	broad.mit.edu	37	20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	287						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532																																						ENST00000216879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(859-861)aTc>aCc		NSFL1 (p97) cofactor (p47)							193.0	191.0	192.0					20																	1426401		2203	4300	6503	SO:0001583	missense	55968	0	0					g.chr20:1426401A>G	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.860T>C	chr20.hg19:g.1426401A>G	ENSP00000216879:p.Ile287Thr	0					NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	p.I287T	NM_016143.4	NP_057227.2	1	2	3	1.995265	Q9UNZ2	NSF1C_HUMAN		8	1727	-			A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	1	1	hg19	c.860T>C	CCDS13015.1	1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.285629	0.35262	N	0.003323	T	0.24198	0.0586	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.31256	0.092;0.316;0.056	B;B;B	0.26969	0.032;0.075;0.021	T	0.16364	-1.0405	10	0.59425	D	0.04	-4.3721	14.3138	0.66434	1.0:0.0:0.0:0.0	.	256;176;287	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	T	256;289;287;176;289	ENSP00000338643:I256T;ENSP00000418529:I289T;ENSP00000216879:I287T;ENSP00000371074:I176T;ENSP00000202584:I289T	ENSP00000216879:I287T	I	-	2	0	0	NSFL1C	1374401	1374401	1.000000	0.71417	0.347000	0.25668	0.924000	0.55760	8.630000	0.90987	2.037000	0.60232	0.459000	0.35465	ATC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	1	0	1		2	2	2	0		0	0	183		183	183	1	2.060000	-20.000000	1	0.170000	NM_016143			208	204		820	800	1		1	1		0	0	183	0		1	1	0	153	0	244	0	208	820
SEL1L2	80343	broad.mit.edu	37	20	13971165	13971165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000378072.5_Silent_p.L6L|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	6						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418																																						ENST00000284951.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(16-18)Ctg>Ttg		sel-1 suppressor of lin-12-like 2 (C. elegans)							102.0	95.0	97.0					20																	13971165		1859	4105	5964	SO:0001819	synonymous_variant	80343	0	0					g.chr20:13971165G>A	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.16C>T	chr20.hg19:g.13971165G>A		0					SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Silent_p.L6L	p.L6L			1	2	3	1.995265	Q5TEA6	SE1L2_HUMAN		1	90	-			B4DXX5	Silent	SNP	ENST00000284951.5	1	1	hg19	c.16C>T		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.162075	1	0.170000	NM_025229			60	60		306	300	1		1			0	0	66	0		1	0	0	0	0	0	0	60	306
FLRT3	23767	broad.mit.edu	37	20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	640					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTCTGGAATACCACTGTCTCT	0.423																																						ENST00000378053.3	1.000000	0.230000	4.800000e-01	2.900000e-01	0.370000	0.408392	0.370000	0.370000																										0				17						c.(1918-1920)gGt>gAt		fibronectin leucine rich transmembrane protein 3							306.0	261.0	277.0					20																	14306234		2203	4300	6503	SO:0001583	missense	23767	1	121402	33				g.chr20:14306234C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1919G>A	chr20.hg19:g.14306234C>T	ENSP00000367292:p.Gly640Asp	0					MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D	p.G640D	NM_013281.3	NP_037413.1	1	2	3	1.995265	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	2	2175	-		Colorectal(1;0.0464)	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	1	1	hg19	c.1919G>A	CCDS13121.1	0	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006577	0.54361	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.62788	0.0;0.0	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.76796	-0.2827	10	0.66056	D	0.02	-12.6026	20.8598	0.99761	0.0:1.0:0.0:0.0	.	640	Q9NZU0	FLRT3_HUMAN	D	640	ENSP00000367292:G640D;ENSP00000339912:G640D	ENSP00000339912:G640D	G	-	2	0	0	FLRT3	14254234	14254234	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	GGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	0	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-3.481129	1	0.170000	NM_013281			20	19		628	619	0		1	1		0	0	141	0		9.999944e-01	3.579902e-01	0	2	0	37	0	20	628
FLRT3	23767	broad.mit.edu	37	20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	213					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443																																						ENST00000378053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(637-639)aAt>aCt		fibronectin leucine rich transmembrane protein 3							66.0	65.0	66.0					20																	14307515		2203	4300	6503	SO:0001583	missense	23767	0	0					g.chr20:14307515T>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.638A>C	chr20.hg19:g.14307515T>G	ENSP00000367292:p.Asn213Thr	0					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T	p.N213T	NM_013281.3	NP_037413.1	1	2	3	1.995265	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	2	894	-		Colorectal(1;0.0464)	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	1	1	hg19	c.638A>C	CCDS13121.1	1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175522	0.57692	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62506	-0.6840	10	0.44086	T	0.13	-15.4867	16.8061	0.85666	0.0:0.0:0.0:1.0	.	213	Q9NZU0	FLRT3_HUMAN	T	213	ENSP00000367292:N213T;ENSP00000339912:N213T	ENSP00000339912:N213T	N	-	2	0	0	FLRT3	14255515	14255515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_013281			60	60		273	267	1		1	1		0	0	73	0		1	6.644485e-01	0	3	0	9	0	60	273
FLRT3	23767	broad.mit.edu	37	20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	69			Q -> K (in HH21; rare variant associated with susceptibility to disease; the patient has a second mutation in the HH- associated gene FGFR1). {ECO:0000269|PubMed:23643382}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393																																						ENST00000378053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(205-207)cAa>cGa		fibronectin leucine rich transmembrane protein 3							121.0	129.0	126.0					20																	14307947		2202	4300	6502	SO:0001583	missense	23767	0	0					g.chr20:14307947T>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.206A>G	chr20.hg19:g.14307947T>C	ENSP00000367292:p.Gln69Arg	0					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R	p.Q69R	NM_013281.3	NP_037413.1	1	2	3	1.995265	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	2	462	-		Colorectal(1;0.0464)	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	1	1	hg19	c.206A>G	CCDS13121.1	1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562035	0.27915	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39787	1.06;1.06	6.06	4.94	0.65067	6.06	4.94	0.65067	.	0.143023	0.49916	D	0.000123	T	0.28267	0.0698	N	0.16833	0.445	0.44834	D	0.997845	B	0.14012	0.009	B	0.15052	0.012	T	0.03354	-1.1045	10	0.30078	T	0.28	-10.4966	13.4394	0.61104	0.0:0.0:0.1308:0.8692	.	69	Q9NZU0	FLRT3_HUMAN	R	69	ENSP00000367292:Q69R;ENSP00000339912:Q69R	ENSP00000339912:Q69R	Q	-	2	0	0	FLRT3	14255947	14255947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.758000	0.68776	1.077000	0.40990	0.533000	0.62120	CAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-20.000000	1	0.170000	NM_013281			133	129		601	595	1		1	1		0	0	142	0		1	9.370861e-01	0	8	0	15	0	133	601
NSFL1C	55968	broad.mit.edu	37	20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	223	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537																																						ENST00000216879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(667-669)Cgg>Tgg		NSFL1 (p97) cofactor (p47)							146.0	137.0	140.0					20																	1433256		2203	4300	6503	SO:0001583	missense	55968	1	121412	34				g.chr20:1433256G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.667C>T	chr20.hg19:g.1433256G>A	ENSP00000216879:p.Arg223Trp	0					NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	p.R223W	NM_016143.4	NP_057227.2	1	2	3	1.995265	Q9UNZ2	NSF1C_HUMAN		7	1534	-			A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	1	1	hg19	c.667C>T	CCDS13015.1	1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206609	0.58343	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.46063	0.91;0.89;0.9;0.88;0.89	5.13	5.13	0.70059	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	L	0.45352	1.415	0.80722	D	1	D;B;P	0.89917	1.0;0.252;0.459	D;B;B	0.83275	0.996;0.031;0.094	T	0.58399	-0.7643	10	0.66056	D	0.02	-9.271	17.2951	0.87168	0.0:0.0:1.0:0.0	.	192;112;223	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	192;225;223;112;225	ENSP00000338643:R192W;ENSP00000418529:R225W;ENSP00000216879:R223W;ENSP00000371074:R112W;ENSP00000202584:R225W	ENSP00000216879:R223W	R	-	1	2	2	NSFL1C	1381256	1381256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.655000	0.54460	2.824000	0.97209	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	0	0	1		18	13	2	1		1	1	156		156	154	1	2.060000	-3.193144	1	0.170000	NM_016143			157	151		671	653	1		1	1		1	0	156	0		1	1	0	155	0	340	0	157	671
NSFL1C	55968	broad.mit.edu	37	20	1438856	1438856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000216879.4	-	3	1134	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_ENST00000476071.1_Silent_p.E89E|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000461211.1_5'Flank	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	89	Poly-Glu.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483																																						ENST00000216879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(265-267)gaG>gaA		NSFL1 (p97) cofactor (p47)							148.0	126.0	133.0					20																	1438856		2203	4300	6503	SO:0001819	synonymous_variant	55968	2	121412	35				g.chr20:1438856C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.267G>A	chr20.hg19:g.1438856C>T		0					NSFL1C_ENST00000461211.1_5'Flank|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E	p.E89E	NM_016143.4	NP_057227.2	1	2	3	1.995265	Q9UNZ2	NSF1C_HUMAN		3	1134	-			A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	1	1	hg19	c.267G>A	CCDS13015.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004086	0.54254	.	.	ENSG00000088833	ENST00000381658	T	0.41400	1.0	5.16	-4.07	0.03975	5.16	-4.07	0.03975	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.21020	N	0.9998	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	8	0.31617	T	0.26	-8.9849	13.2385	0.59983	0.0:0.3723:0.0:0.6277	.	10	Q9UNZ2-6	.	K	10	ENSP00000371074:R10K	ENSP00000371074:R10K	R	-	2	0	0	NSFL1C	1386856	1386856	0.174000	0.23070	0.729000	0.30791	0.934000	0.57294	-0.711000	0.05019	-0.684000	0.05183	0.655000	0.94253	AGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	0	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-2.939039	1	0.170000	NM_016143			79	76		392	380	1		1	1		0	0	110	0		1	1	0	117	0	240	0	79	392
FLRT3	23767	broad.mit.edu	37	20	14308063	14308063	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	30	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478																																						ENST00000378053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(88-90)tcC>tcT		fibronectin leucine rich transmembrane protein 3							112.0	101.0	105.0					20																	14308063		2203	4300	6503	SO:0001819	synonymous_variant	23767	0	0					g.chr20:14308063G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.90C>T	chr20.hg19:g.14308063G>A		0					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S	p.S30S	NM_013281.3	NP_037413.1	1	2	3	1.995265	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	2	346	-		Colorectal(1;0.0464)	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	1	1	hg19	c.90C>T	CCDS13121.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.336695	1	0.170000	NM_013281			76	74		379	369	1		1	1		0	0	72	0		1	8.683464e-01	0	11	0	9	0	76	379
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	rs374055663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					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.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																						ENST00000359801.3	1.000000	0.360000	6.300000e-01	4.300000e-01	0.520000	0.547060	0.520000	0.510000																										2	Substitution - Missense(2)	p.S240L(1)|p.S141L(1)	large_intestine(2)	16						c.(421-423)tCg>tTg		signal-regulatory protein beta 2		G	LEU/SER,	2,3134		0,2,1566	181.0	156.0	164.0		422,	-0.9	0.0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense	284759	1	120534	40				g.chr20:1460374G>A	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.422C>T	chr20.hg19:g.1460374G>A	ENSP00000352849:p.Ser141Leu	0					SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	p.S141L	NM_001122962.1	NP_001116434.1	1	2	3	1.995265	Q9P1W8	SIRPG_HUMAN		2	458	-			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	1	1	hg19	c.422C>T	CCDS42849.1	0	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	0	SIRPB2	1408374	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	0	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-3.929019	1	0.170000	NM_178459			36	35		791	777	0		1	0		0	0	155	0		1	4.739332e-02	0	0	0	8	0	36	791
MACROD2	140733	broad.mit.edu	37	20	14474150	14474150	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000310348.4	+	4	297	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000217246.4_Silent_p.G99G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	99	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTGGAGGAGGAGGTGGTAAGT	0.279																																						ENST00000310348.4	1.000000	0.670000	1	8.100000e-01	0.980000	0.927605	0.980000	1.000000																										0				20						c.(295-297)ggA>ggT		MACRO domain containing 2							123.0	115.0	117.0					20																	14474150		1811	4066	5877	SO:0001819	synonymous_variant	140733	0	0					g.chr20:14474150A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.297A>T	chr20.hg19:g.14474150A>T		0					MACROD2_ENST00000217246.4_Silent_p.G99G	p.G99G			1	2	3	1.995265	A1Z1Q3	MACD2_HUMAN		4	297	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	1	1	hg19	c.297A>T	CCDS13120.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_080676			29	29		324	314	0		1	1		0	0	71	0		1	6.128441e-02	0	2	0	3	0	29	324
SIRPG	55423	broad.mit.edu	37	20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000303415.3	-	4	1077	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	SIRPG_ENST00000381580.1_Missense_Mutation_p.A305V|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGCTGACCGCCAGCTGCCC	0.507													a|||	2	0.000399361	0.0008	0.0	5008	,	,		17425	0.0		0.001	False		,,,				2504	0.0					ENST00000303415.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1012-1014)gCg>gTg		signal-regulatory protein gamma		A	,VAL/ALA,	0,4406		0,0,2203	119.0	96.0	104.0		,1013,	-0.7	0.0	20	dbSNP_127	104	8,8592		0,8,4292	yes	intron,missense,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,64,	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	,benign,	,338/388,	1615981	8,12998	2203	4300	6503	SO:0001583	missense	55423	49	121412	50				g.chr20:1615981G>A	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.1013C>T	chr20.hg19:g.1615981G>A	ENSP00000305529:p.Ala338Val	0					SIRPG_ENST00000381580.1_Missense_Mutation_p.A305V|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA	p.A338V	NM_018556.3	NP_061026.2	1	2	3	1.995265	Q9P1W8	SIRPG_HUMAN		4	1077	-			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	1	1	hg19	c.1013C>T	CCDS13020.2	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	6.004	0.369084	0.11352	0.0	9.3E-4	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12255	3.11;2.7	1.6	-0.664	0.11406	1.6	-0.664	0.11406	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.736109	0.12511	N	0.462442	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	P	0.50943	0.94	B	0.31442	0.13	T	0.26467	-1.0102	10	0.42905	T	0.14	.	2.2338	0.04003	0.1987:0.0:0.5027:0.2987	rs41275434	338	Q9P1W8	SIRPG_HUMAN	V	305;338	ENSP00000370992:A305V;ENSP00000305529:A338V	ENSP00000305529:A338V	A	-	2	0	0	SIRPG	1563981	1563981	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.175000	0.16762	-0.163000	0.10946	-1.051000	0.02340	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.075755	1	0.170000	NM_018556			78	78		336	332	1		1	0		0	0	93	0		1	6.900971e-01	0	0	0	12	0	78	336
SIRPG	55423	broad.mit.edu	37	20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000303415.3	-	2	450	c.386A>G	c.(385-387)aAc>aGc	p.N129S	SIRPG_ENST00000381580.1_Missense_Mutation_p.N96S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	129	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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAACTCCACGTTCTCAGGGCT	0.483																																						ENST00000303415.3	1.000000	0.290000	5.800000e-01	3.700000e-01	0.460000	0.492479	0.460000	0.450000																										0				27						c.(385-387)aAc>aGc		signal-regulatory protein gamma							223.0	195.0	204.0					20																	1629742		2203	4300	6503	SO:0001583	missense	55423	0	0					g.chr20:1629742T>C	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.386A>G	chr20.hg19:g.1629742T>C	ENSP00000305529:p.Asn129Ser	0					SIRPG_ENST00000381580.1_Missense_Mutation_p.N96S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S	p.N129S	NM_018556.3	NP_061026.2	1	2	3	1.995265	Q9P1W8	SIRPG_HUMAN		2	450	-			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	1	1	hg19	c.386A>G	CCDS13020.2	0	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924031	0.34002	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11	1.93	1.93	0.25924	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.187422	0.37437	N	0.002092	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.03;0.032;0.037	B;B;B	0.16722	0.009;0.006;0.016	T	0.49360	-0.8948	10	0.09843	T	0.71	.	5.8652	0.18771	0.0:0.0:0.0:1.0	.	129;129;129	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	96;129;129;129;129	ENSP00000370992:N96S;ENSP00000342759:N129S;ENSP00000305529:N129S;ENSP00000370995:N129S;ENSP00000216927:N129S	ENSP00000216927:N129S	N	-	2	0	0	SIRPG	1577742	1577742	0.005000	0.15991	0.009000	0.14445	0.664000	0.39144	1.424000	0.34848	1.143000	0.42306	0.164000	0.16699	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	0	0	1		2	2	2	0		0	0	132		132	129	1	2.060000	-4.056558	1	0.170000	NM_018556			22	22		553	544	0		1	0		0	0	132	0		9.999985e-01	3.069687e-01	0	0	0	28	0	22	553
MACROD2	140733	broad.mit.edu	37	20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000310348.4	+	16	1202	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	401					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGGCTCCAGTGACCTAGAA	0.448																																						ENST00000310348.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				20						c.(1201-1203)aGt>aTt		MACRO domain containing 2							80.0	80.0	80.0					20																	16021894		2203	4299	6502	SO:0001583	missense	140733	0	0					g.chr20:16021894G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1202G>T	chr20.hg19:g.16021894G>T	ENSP00000309809:p.Ser401Ile	0					MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I	p.S401I			1	2	3	1.995265	A1Z1Q3	MACD2_HUMAN		16	1202	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	1	1	hg19	c.1202G>T	CCDS13120.2	1	.	.	.	.	.	.	.	.	.	.	G	3.203	-0.163362	0.06502	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51325	2.03;2.3;0.71;0.71	5.37	2.31	0.28768	5.37	2.31	0.28768	.	1.218200	0.05691	N	0.592088	T	0.45034	0.1322	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18461	0.023;0.017;0.028	B;B;B	0.32583	0.148;0.01;0.022	T	0.49041	-0.8980	10	0.87932	D	0	2.7006	8.5224	0.33285	0.1475:0.0:0.7257:0.1268	.	52;401;401	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	I	401;401;166;166;52	ENSP00000217246:S401I;ENSP00000309809:S401I;ENSP00000385290:S166I;ENSP00000367297:S166I	ENSP00000217246:S401I	S	+	2	0	0	MACROD2	15969894	15969894	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	0.922000	0.28734	0.071000	0.16664	-0.797000	0.03246	AGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_080676			24	24		106	105	1		1	0		0	0	35	0		9.999998e-01	3.924843e-01	0	1	0	6	0	24	106
KIF16B	55614	broad.mit.edu	37	20	16355009	16355009	+	Silent	SNP	G	G	A	rs567987197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000408042.1_Silent_p.V1081V|KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1081					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)			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						GAACACCATCGACCTCATAAA	0.443																																						ENST00000354981.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3241-3243)gtC>gtT		kinesin family member 16B							129.0	110.0	116.0					20																	16355009		2203	4300	6503	SO:0001819	synonymous_variant	55614	3	121412	37				g.chr20:16355009G>A	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.3243C>T	chr20.hg19:g.16355009G>A		0					KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000408042.1_Silent_p.V1081V	p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	1	2	3	1.995265	Q96L93	KI16B_HUMAN		20	3400	-			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	1	1	hg19	c.3243C>T	CCDS13122.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.097247	1	0.170000	NM_017683			71	68		311	309	1		1	1		0	0	60	0		1	9.992136e-01	0	10	0	39	0	71	311
KIF16B	55614	broad.mit.edu	37	20	16486701	16486701	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000408042.1_Silent_p.S278S|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	278	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)			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						GAGTCACGAGGGACTTGTTAA	0.512																																						ENST00000354981.2	1.000000	0.180000	4.500000e-01	2.500000e-01	0.330000	0.373428	0.330000	0.320000																										0				74						c.(832-834)tcC>tcA		kinesin family member 16B							119.0	110.0	113.0					20																	16486701		2203	4300	6503	SO:0001819	synonymous_variant	55614	0	0					g.chr20:16486701G>T	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.834C>A	chr20.hg19:g.16486701G>T		0					KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.S278S	p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	1	2	3	1.995265	Q96L93	KI16B_HUMAN		8	991	-			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	1	1	hg19	c.834C>A	CCDS13122.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	0	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-2.826144	1	0.170000	NM_017683			14	13		497	489	0		1	1		0	0	104	0		9.997277e-01	4.798741e-01	0	4	0	52	0	14	497
DEFB128	245939	broad.mit.edu	37	20	168663	168663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388																																						ENST00000334391.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(145-147)gGg>gAg		defensin, beta 128							344.0	319.0	328.0					20																	168663		2203	4300	6503	SO:0001583	missense	245939	0	0					g.chr20:168663C>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.146G>A	chr20.hg19:g.168663C>T	ENSP00000335382:p.Gly49Glu	0						p.G49E	NM_001037732.1	NP_001032821.1	1	2	3	1.995265	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)	2	203	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	B2RU29	Missense_Mutation	SNP	ENST00000334391.4	1	1	hg19	c.146G>A	CCDS33430.1	1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550653	0.45383	.	.	ENSG00000185982	ENST00000334391	T	0.13538	2.58	4.3	2.38	0.29361	4.3	2.38	0.29361	.	0.427123	0.20219	N	0.096725	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.42078	0.77	P	0.48840	0.592	T	0.04840	-1.0923	9	0.66056	D	0.02	-4.7649	6.5449	0.22400	0.0:0.7865:0.0:0.2135	.	49	Q7Z7B8	DB128_HUMAN	E	49	ENSP00000335382:G49E	ENSP00000335382:G49E	G	-	2	0	0	DEFB128	116663	116663	0.002000	0.14202	0.144000	0.22314	0.081000	0.17604	0.437000	0.21543	0.751000	0.32900	0.651000	0.88453	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	1	0	1		2	2	2	0		0	0	236		236	233	1	2.060000	-20.000000	1	0.170000	NM_001037732			202	200		898	875	1		1			0	0	236	0		1	0	0	0	0	0	0	202	898
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363																																						ENST00000246081.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(238-240)Gaa>Taa		otoraplin							62.0	65.0	64.0					20																	16729634		2203	4300	6503	SO:0001587	stop_gained	56914	0	0					g.chr20:16729634G>T	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.238G>T	chr20.hg19:g.16729634G>T	ENSP00000246081:p.Glu80*	0						p.E80*	NM_020157.2	NP_064542.1	1	2	3	1.995265	Q9NRC9	OTOR_HUMAN		2	282	+			D3DW22|Q3MIU6	Nonsense_Mutation	SNP	ENST00000246081.2	0	1	hg19	c.238G>T	CCDS13124.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.444330	0.97572	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.108254	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.135	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000246081:E80X	E	+	1	0	0	OTOR	16677634	16677634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				62	63		241	231	1		1	0		0	0	44	0		1	4.320154e-02	0	0	0	2	0	62	241
PCSK2	5126	broad.mit.edu	37	20	17462277	17462277	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.A458A|PCSK2_ENST00000377899.1_Silent_p.A474A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	493					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)			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)"""	CAACCGACGCCTGTGAGGGGA	0.517																																						ENST00000262545.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1477-1479)gcC>gcA		proprotein convertase subtilisin/kexin type 2	"""Insulin(DB00071)|Insulin Regular(DB00030)"						122.0	114.0	117.0					20																	17462277		2203	4300	6503	SO:0001819	synonymous_variant	5126	0	0					g.chr20:17462277C>A	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.1479C>A	chr20.hg19:g.17462277C>A		0					PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.A458A	p.A493A	NM_002594.3	NP_002585.2	1	2	3	1.995265	P16519	NEC2_HUMAN		12	1794	+			B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	1	1	hg19	c.1479C>A	CCDS13125.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_002594			93	90		403	391	1		1	0		0	0	93	0		1	9.973814e-01	0	0	0	41	0	93	403
RRBP1	6238	broad.mit.edu	37	20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	883					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCGTCCAGGCGCTTCTGCAGG	0.697																																						ENST00000377813.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2647-2649)Cgc>Tgc		ribosome binding protein 1		G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	22.0	23.0	23.0		1348,1348	2.2	1.0	20	dbSNP_134	23	1,8597		0,1,4298	no	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	180,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	450/978,450/978	17610570	1,13001	2202	4299	6501	SO:0001583	missense	6238	0	0					g.chr20:17610570G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2647C>T	chr20.hg19:g.17610570G>A	ENSP00000367044:p.Arg883Cys	0					RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C	p.R883C			1	2	3	1.995265	Q9P2E9	RRBP1_HUMAN		9	2950	-			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	1	1	hg19	c.2647C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251294	0.59212	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.38	2.15	0.27550	4.38	2.15	0.27550	.	0.000000	0.35936	N	0.002888	T	0.54382	0.1855	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.74674	0.984	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.8453	8.4086	0.32629	0.0:0.1263:0.5658:0.3079	.	450	Q9P2E9-3	.	C	450;883;450;883;224	ENSP00000354045:R450C;ENSP00000367044:R883C;ENSP00000367038:R450C;ENSP00000246043:R883C;ENSP00000401206:R224C	ENSP00000246043:R883C	R	-	1	0	0	RRBP1	17558570	17558570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.668000	0.37481	1.111000	0.41721	0.561000	0.74099	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_001042576			37	37		150	148	1		1	1		0	0	29	0		1	1	0	130	0	478	0	37	150
SNX5	27131	broad.mit.edu	37	20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.S380A	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	380	BAR.				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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCAGTTCAGACATTTCAATT	0.328																																						ENST00000377768.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1138-1140)Tct>Gct		sorting nexin 5							167.0	183.0	177.0					20																	17923780		2203	4300	6503	SO:0001583	missense	27131	0	0					g.chr20:17923780A>C	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	ENST00000377768.3:c.1138T>G	chr20.hg19:g.17923780A>C	ENSP00000366998:p.Ser380Ala	0					SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.S380A	p.S380A	NM_152227.1	NP_689413.1	1	2	3	1.995265	Q9Y5X3	SNX5_HUMAN		13	1450	-			B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	1	1	hg19	c.1138T>G	CCDS13130.1	1	.	.	.	.	.	.	.	.	.	.	A	3.231	-0.157421	0.06544	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.152923	0.64402	D	0.000014	T	0.11836	0.0288	N	0.00112	-2.095	0.35452	D	0.795741	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-23.815	6.325	0.21239	0.6166:0.1465:0.0:0.2369	.	380	Q9Y5X3	SNX5_HUMAN	A	380	ENSP00000366998:S380A;ENSP00000366988:S380A	ENSP00000366988:S380A	S	-	1	0	0	SNX5	17871780	17871780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.365000	0.44196	2.207000	0.71202	0.533000	0.62120	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4	0	0	1		2	7	2	1		1	0	325		325	324	1	2.060000	-20.000000	1	0.170000				211	208		995	979	1		1	1		1	0	325	0		1	1	0	111	0	339	0	211	995
SNX5	27131	broad.mit.edu	37	20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.L128M	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TACGCTTCCAGTTCTTGTTTC	0.423																																						ENST00000377768.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(382-384)Ctg>Atg		sorting nexin 5							226.0	216.0	219.0					20																	17934647		2203	4300	6503	SO:0001583	missense	27131	0	0					g.chr20:17934647G>T	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	ENST00000377768.3:c.382C>A	chr20.hg19:g.17934647G>T	ENSP00000366998:p.Leu128Met	0					SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.L128M	p.L128M	NM_152227.1	NP_689413.1	1	2	3	1.995265	Q9Y5X3	SNX5_HUMAN		5	694	-			B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	1	1	hg19	c.382C>A	CCDS13130.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744613	0.69418	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.39	2.41	0.29592	5.39	2.41	0.29592	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82506	-0.0423	10	0.66056	D	0.02	-18.7303	8.8107	0.34965	0.286:0.0:0.714:0.0	.	149;128	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	128;128;91;93	ENSP00000366998:L128M;ENSP00000366988:L128M;ENSP00000404448:L91M;ENSP00000406731:L93M	ENSP00000366988:L128M	L	-	1	2	2	SNX5	17882647	17882647	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.490000	0.53245	0.360000	0.24265	0.455000	0.32223	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4	1	0	1		2	2	2	0		0	0	223		223	220	1	2.060000	-20.000000	1	0.170000				220	214		943	918	1		1	1		0	0	223	0		1	1	0	113	0	351	0	220	943
CSRP2BP	57325	broad.mit.edu	37	20	18143582	18143582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000435364.3	+	6	2005	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	555					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)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTTGACCGATACCAGGTG	0.527																																						ENST00000435364.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.993173	0.990000	1.000000																										0				34						c.(1663-1665)cGa>cAa		CSRP2 binding protein							46.0	42.0	43.0					20																	18143582		2203	4300	6503	SO:0001583	missense	57325	0	0					g.chr20:18143582G>A	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.1664G>A	chr20.hg19:g.18143582G>A	ENSP00000392318:p.Arg555Gln	0					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	p.R555Q	NM_020536.4	NP_065397	1	2	3	1.995265	Q9H8E8	CSR2B_HUMAN		6	2005	+			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	0	1	hg19	c.1664G>A	CCDS13133.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263816	0.95399	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.23754	1.89;1.89;1.89;1.9	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.56135	-0.8029	10	0.72032	D	0.01	-18.9691	19.6614	0.95875	0.0:0.0:1.0:0.0	.	427;555	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	Q	555;554;555;427	ENSP00000278816:R555Q;ENSP00000366909:R554Q;ENSP00000392318:R555Q;ENSP00000425909:R427Q	ENSP00000278816:R555Q	R	+	2	0	0	CSRP2BP	18091582	18091582	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	9.060000	0.93907	2.633000	0.89246	0.655000	0.94253	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	0	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_020536			19	17		142	139	0		1	1		0	0	46	0		9.999914e-01	9.923491e-01	0	10	0	52	0	19	142
CSRP2BP	57325	broad.mit.edu	37	20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A	rs535177493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000435364.3	+	7	2068	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	576					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)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19873	0.001		0.0	False		,,,				2504	0.0					ENST00000435364.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1726-1728)cGc>cAc		CSRP2 binding protein							143.0	136.0	138.0					20																	18162409		2203	4300	6503	SO:0001583	missense	57325	3	121412	40				g.chr20:18162409G>A	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.1727G>A	chr20.hg19:g.18162409G>A	ENSP00000392318:p.Arg576His	0					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	p.R576H	NM_020536.4	NP_065397	1	2	3	1.995265	Q9H8E8	CSR2B_HUMAN		7	2068	+			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	1	1	hg19	c.1727G>A	CCDS13133.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.322696	0.95708	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16897	2.31;2.31;2.31;2.32	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.42189	-0.9466	10	0.87932	D	0	-22.1899	19.3627	0.94446	0.0:0.0:1.0:0.0	.	448;576	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	576;575;576;448	ENSP00000278816:R576H;ENSP00000366909:R575H;ENSP00000392318:R576H;ENSP00000425909:R448H	ENSP00000278816:R576H	R	+	2	0	0	CSRP2BP	18110409	18110409	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.743000	0.91592	2.583000	0.87209	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	0	0	1		20	3	2	1		1	1	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_020536			98	96		472	457	1		1	1		1	0	91	0		1	9.712864e-01	0	12	0	27	0	98	472
ZNF133	7692	broad.mit.edu	37	20	18296806	18296806	+	Silent	SNP	G	G	A	rs541052064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000316358.4	+	4	1408	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000535822.1_Silent_p.P342P|ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000377671.3_Silent_p.P436P|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGGAGAAGCCGTATGTTTGTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21372	0.001		0.0	False		,,,				2504	0.0					ENST00000316358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1309-1311)ccG>ccA		zinc finger protein 133							63.0	64.0	64.0					20																	18296806		2203	4300	6503	SO:0001819	synonymous_variant	7692	3	121410	34				g.chr20:18296806G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1311G>A	chr20.hg19:g.18296806G>A		0					ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000377671.3_Silent_p.P436P|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Silent_p.P342P|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.P440P	p.P437P	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	1	2	3	1.995265	P52736	ZN133_HUMAN		4	1408	+			A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	1	0	hg19	c.1311G>A		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	1		2	2	2	0		0	0	92		92	88	1	2.060000	-3.679592	1	0.170000	NM_003434			94	94		371	363	1		1	1		0	0	92	0		1	9.996827e-01	0	16	0	33	0	94	371
ZNF133	7692	broad.mit.edu	37	20	18297040	18297040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000316358.4	+	4	1642	c.1545G>A	c.(1543-1545)acG>acA	p.T515T	ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000377671.3_Silent_p.T514T|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	515					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622																																						ENST00000316358.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999639	0.990000	1.000000																										0				26						c.(1543-1545)acG>acA		zinc finger protein 133							70.0	71.0	71.0					20																	18297040		2203	4300	6503	SO:0001819	synonymous_variant	7692	1	121412	33				g.chr20:18297040G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1545G>A	chr20.hg19:g.18297040G>A		0					ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000377671.3_Silent_p.T514T|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.T518T	p.T515T	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	1	2	3	1.995265	P52736	ZN133_HUMAN		4	1642	+			A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	1	1	hg19	c.1545G>A		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.221888	1	0.170000	NM_003434			49	49		361	354	1		1	1		0	0	73	0		1	9.708776e-01	0	7	0	37	0	49	361
ZNF133	7692	broad.mit.edu	37	20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000316358.4	+	4	1776	c.1679G>T	c.(1678-1680)gGc>gTc	p.G560V	ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000377671.3_Missense_Mutation_p.G559V|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	560					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562																																						ENST00000316358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1678-1680)gGc>gTc		zinc finger protein 133							104.0	86.0	92.0					20																	18297174		2203	4300	6503	SO:0001583	missense	7692	0	0					g.chr20:18297174G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1679G>T	chr20.hg19:g.18297174G>T	ENSP00000346090:p.Gly560Val	0					ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000377671.3_Missense_Mutation_p.G559V|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V	p.G560V	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	1	2	3	1.995265	P52736	ZN133_HUMAN		4	1776	+			A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	1	1	hg19	c.1679G>T		1	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287488	0.05605	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.23	1.17	0.20885	4.23	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687394	0.13418	N	0.389409	T	0.25419	0.0618	N	0.20881	0.62	0.09310	N	0.999999	B;B;B;B	0.23540	0.087;0.039;0.064;0.052	B;B;B;B	0.32928	0.155;0.102;0.102;0.062	T	0.28332	-1.0047	10	0.20046	T	0.44	-4.9001	3.4811	0.07602	0.2924:0.0:0.5306:0.177	.	497;563;560;559	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	559;563;497;560;465;465;560	ENSP00000366899:G559V;ENSP00000400897:G563V;ENSP00000385279:G497V;ENSP00000383945:G560V;ENSP00000442978:G465V;ENSP00000439427:G465V;ENSP00000346090:G560V	ENSP00000346090:G560V	G	+	2	0	0	ZNF133	18245174	18245174	0.000000	0.05858	0.037000	0.18230	0.317000	0.28152	-0.640000	0.05440	0.309000	0.22966	0.655000	0.94253	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	0		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_003434			51	50		238	226	1		1	1		0	0	65	0		1	9.880130e-01	0	11	0	24	0	51	238
SIRPA	140885	broad.mit.edu	37	20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S|SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					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)				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)		GCTGTCTGTGCGCGGTGAGTA	0.542																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4	1.000000	0.740000	1	8.800000e-01	0.990000	0.956719	0.990000	1.000000																										0				21						c.(433-435)Cgc>Agc		signal-regulatory protein alpha							103.0	91.0	95.0					20																	1896098		2203	4298	6501	SO:0001583	missense	140885	0	0					g.chr20:1896098C>A	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.433C>A	chr20.hg19:g.1896098C>A	ENSP00000351621:p.Arg145Ser	0					SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S	p.R145S	NM_001040023.1	NP_001035112.1	1	2	3	1.995265	P78324	SHPS1_HUMAN		2	585	+			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	1	1	hg19	c.433C>A	CCDS13022.1	1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393833	0.11638	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02085	4.46;4.46;4.46	5.11	-3.87	0.04218	5.11	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.012980	0.07889	N	0.970802	T	0.01189	0.0039	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.23316	0.005;0.083;0.005	B;B;B	0.13407	0.005;0.009;0.005	T	0.48186	-0.9057	10	0.16420	T	0.52	.	17.2156	0.86943	0.2185:0.7815:0.0:0.0	.	125;145;145	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	145	ENSP00000382941:R145S;ENSP00000348307:R145S;ENSP00000351621:R145S	ENSP00000348307:R145S	R	+	1	0	0	SIRPA	1844098	1844098	0.027000	0.19231	0.010000	0.14722	0.037000	0.13140	-0.010000	0.12743	-0.921000	0.03794	-0.410000	0.06199	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.142702	1	0.170000	NM_080792			39	33		411	380	0		1	0		0	0	71	0		1	9.981648e-01	0	0	0	102	0	39	411
SIRPA	140885	broad.mit.edu	37	20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T|SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				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)				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)		CGGGCAGCCAGCGGTCAGCAA	0.577																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1018-1020)Gcg>Acg		signal-regulatory protein alpha							56.0	48.0	50.0					20																	1903222		2203	4296	6499	SO:0001583	missense	140885	0	0					g.chr20:1903222G>A	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.1018G>A	chr20.hg19:g.1903222G>A	ENSP00000351621:p.Ala340Thr	0					SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T	p.A340T	NM_001040023.1	NP_001035112.1	1	2	3	1.995265	P78324	SHPS1_HUMAN		4	1170	+			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	0	1	hg19	c.1018G>A	CCDS13022.1	1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142702	0.57044	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09073	3.02;3.02;3.02	5.35	3.26	0.37387	5.35	3.26	0.37387	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.593939	0.16053	N	0.231870	T	0.13500	0.0327	M	0.79475	2.455	0.09310	N	1	P;D;P	0.54047	0.79;0.964;0.889	B;B;P	0.44732	0.286;0.441;0.459	T	0.12656	-1.0539	10	0.48119	T	0.1	.	8.1172	0.30950	0.0:0.1926:0.6346:0.1728	.	320;340;340	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	340	ENSP00000382941:A340T;ENSP00000348307:A340T;ENSP00000351621:A340T	ENSP00000348307:A340T	A	+	1	0	0	SIRPA	1851222	1851222	0.048000	0.20356	0.113000	0.21522	0.081000	0.17604	1.072000	0.30678	1.607000	0.50170	-0.211000	0.12701	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	1	0	1		2	2	2	0		0	0	32		32	35	1	2.060000	-20.000000	1	0.170000	NM_080792			40	32		138	126	0		1	0		0	0	32	0		1	1	0	1	0	142	0	40	138
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597																																						ENST00000217305.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R213C(1)	lung(1)	38						c.(637-639)Cgc>Tgc		prodynorphin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	101.0	112.0	108.0		637,637,637,637,637	4.0	1.0	20	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	213/255,213/255,213/255,213/255,213/255	1961097	1,13005	2203	4300	6503	SO:0001583	missense	5173	3	121412	36				g.chr20:1961097G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.637C>T	chr20.hg19:g.1961097G>A	ENSP00000217305:p.Arg213Cys	0					RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	1	2	3	1.995265	P01213	PDYN_HUMAN		4	862	-			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	1	1	hg19	c.637C>T	CCDS13023.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	0	PDYN	1909097	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	1	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000				137	137		580	565	1		1			0	0	147	0		1	0	0	0	0	0	0	137	580
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T	rs376124198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597																																						ENST00000217305.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A164P(1)	lung(1)	38						c.(490-492)Gct>Act		prodynorphin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	104.0	105.0		490,490,490,490,490	-8.3	0.0	20		105	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	164/255,164/255,164/255,164/255,164/255	1961244	1,13005	2203	4300	6503	SO:0001583	missense	5173	1	121412	37				g.chr20:1961244C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.490G>A	chr20.hg19:g.1961244C>T	ENSP00000217305:p.Ala164Thr	0					RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	1	2	3	1.995265	P01213	PDYN_HUMAN		4	715	-			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	1	1	hg19	c.490G>A	CCDS13023.1	1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451015	0.12223	2.27E-4	0.0	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80214	-1.35;-1.35;-1.35	4.71	-8.27	0.01017	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.54543	-0.8278	10	0.10636	T	0.68	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	T	164	ENSP00000440185:A164T;ENSP00000442259:A164T;ENSP00000217305:A164T	ENSP00000217305:A164T	A	-	1	0	0	PDYN	1909244	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000				82	80		465	454	1		1			0	0	120	0		1	0	0	0	0	0	0	82	465
RBBP9	10741	broad.mit.edu	37	20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	109					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423																																						ENST00000337227.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(325-327)Cgt>Tgt		retinoblastoma binding protein 9							160.0	144.0	150.0					20																	18471048		2203	4300	6503	SO:0001583	missense	10741	1	121412	29				g.chr20:18471048G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.325C>T	chr20.hg19:g.18471048G>A	ENSP00000336866:p.Arg109Cys	0					RBBP9_ENST00000493184.1_Intron	p.R109C	NM_006606.2	NP_006597.2	1	2	3	1.995265	O75884	RBBP9_HUMAN		4	400	-			D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	1	1	hg19	c.325C>T	CCDS13136.1	1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799256	0.70567	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.96	3.02	0.34903	4.96	3.02	0.34903	.	0.290145	0.27554	N	0.018852	T	0.63510	0.2517	M	0.80847	2.515	0.52099	D	0.999947	D	0.71674	0.998	P	0.52454	0.699	T	0.63580	-0.6605	9	0.54805	T	0.06	-0.1625	4.8294	0.13432	0.1751:0.0:0.6562:0.1687	.	109	O75884	RBBP9_HUMAN	C	109	.	ENSP00000336866:R109C	R	-	1	0	0	RBBP9	18419048	18419048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.344000	0.44010	0.803000	0.34113	0.655000	0.94253	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_006606			61	59		249	245	1		1	1		0	0	62	0		1	9.999981e-01	0	21	0	61	0	61	249
SLC24A3	57419	broad.mit.edu	37	20	19698237	19698237	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	595					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)			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						TTTTTGTCACGGTAGGTTGGC	0.522																																						ENST00000328041.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1783-1785)acG>acA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							237.0	229.0	231.0					20																	19698237		2203	4300	6503	SO:0001630	splice_region_variant	57419	0	0					g.chr20:19698237G>A	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.1785+1G>A	chr20.hg19:g.19698237G>A		0						p.T595T	NM_020689.3	NP_065740.2	1	2	3	1.995265	Q9HC58	NCKX3_HUMAN		16	1982	+			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Splice_Site	SNP	ENST00000328041.6	1	0	hg19	c.1785G>A	CCDS13140.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	1	0	1		2	2	2	0		0	0	231		231	228	1	2.060000	-2.683875	1	0.170000	NM_020689	Silent		250	243		1009	990	1		1	0		0	0	231	0		1	1	0	0	0	96	0	250	1009
CRNKL1	51340	broad.mit.edu	37	20	20016875	20016875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	837					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)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CATCTGGATGGTGCTCAGCAT	0.413																																						ENST00000377340.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2509-2511)caC>caT		crooked neck pre-mRNA splicing factor 1							175.0	150.0	158.0					20																	20016875		2203	4300	6503	SO:0001819	synonymous_variant	51340	0	0					g.chr20:20016875G>A	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.2511C>T	chr20.hg19:g.20016875G>A		0					CRNKL1_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR	p.H837H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	1	2	3	1.995265	Q9BZJ0	CRNL1_HUMAN		15	2542	-			A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	1	1	hg19	c.2511C>T	CCDS33446.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000				86	87		515	502	1		1	1		0	0	95	0		1	1	0	49	0	130	0	86	515
CFAP61	26074	broad.mit.edu	37	20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		357										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)		ATATGCACAGTATCACCATGT	0.502																																						ENST00000245957.5	1.000000	0.880000	1	9.900000e-01	0.990000	0.992511	0.990000	1.000000																										0				77						c.(1069-1071)Tat>Cat									128.0	114.0	119.0					20																	20144736		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr20:20144736T>C																												ENST00000245957.5:c.1069T>C	chr20.hg19:g.20144736T>C	ENSP00000245957:p.Tyr357His	0					C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377309.2_5'UTR	p.Y357H	NM_015585.3	NP_056400.3	1	2	3	1.995265	Q8NHU2	CT026_HUMAN		11	1145	+			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	1	1	hg19	c.1069T>C	CCDS33447.1	1	.	.	.	.	.	.	.	.	.	.	T	4.349	0.064258	0.08388	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.08458	3.09;3.09;3.09	5.36	0.968	0.19680	5.36	0.968	0.19680	.	2.004040	0.02619	N	0.102998	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.27932	0.007;0.194;0.0;0.0	B;B;B;B	0.19148	0.001;0.024;0.0;0.0	T	0.32798	-0.9893	10	0.44086	T	0.13	.	1.2688	0.02016	0.2649:0.1475:0.4344:0.1532	.	357;357;312;357	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	312;357;357;357;357	ENSP00000245957:Y357H;ENSP00000366521:Y357H;ENSP00000414537:Y357H	ENSP00000245957:Y357H	Y	+	1	0	0	C20orf26	20092736	20092736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	0.012000	0.14892	-0.132000	0.14878	TAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000				40	39		351	341	1		1			0	0	86	0		1	0	0	0	0	0	0	40	351
CFAP61	26074	broad.mit.edu	37	20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		940										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)		TTCTGTGAGAAGAATGTGGAT	0.403																																						ENST00000245957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2818-2820)aAg>aCg									189.0	182.0	185.0					20																	20269275		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr20:20269275A>C																												ENST00000245957.5:c.2819A>C	chr20.hg19:g.20269275A>C	ENSP00000245957:p.Lys940Thr	0					C20orf26_ENST00000377309.2_Intron	p.K940T	NM_015585.3	NP_056400.3	1	2	3	1.995265	Q8NHU2	CT026_HUMAN		23	2895	+			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	1	1	hg19	c.2819A>C	CCDS33447.1	1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729971	0.69074	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.12879	2.64	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.051644	0.85682	D	0.000000	T	0.36166	0.0957	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.12477	-1.0546	10	0.72032	D	0.01	.	11.6781	0.51442	0.929:0.0:0.071:0.0	.	940	Q8NHU2	CT026_HUMAN	T	880;906;940	ENSP00000245957:K940T	ENSP00000245957:K940T	K	+	2	0	0	C20orf26	20217275	20217275	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.045000	0.64220	2.142000	0.66516	0.528000	0.53228	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1		2	2	2	0		0	0	218		218	215	1	2.060000	-20.000000	1	0.170000				159	155		834	808	1		1			0	0	218	0		1	0	0	0	0	0	0	159	834
CFAP61	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000245957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										4	Substitution - Missense(4)	p.R1088Q(3)|p.R1088P(1)	large_intestine(3)|lung(1)	77						c.(3262-3264)cGa>cAa									78.0	75.0	76.0					20																	20278871		2203	4300	6503	SO:0001583	missense	0	1	121412	33				g.chr20:20278871G>A																												ENST00000245957.5:c.3263G>A	chr20.hg19:g.20278871G>A	ENSP00000245957:p.Arg1088Gln	0					C20orf26_ENST00000377309.2_3'UTR	p.R1088Q	NM_015585.3	NP_056400.3	1	2	3	1.995265	Q8NHU2	CT026_HUMAN		25	3339	+			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	1	1	hg19	c.3263G>A	CCDS33447.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	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	0	C20orf26	20226871	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	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				58	56		233	227	1		1			0	0	58	0		1	0	0	0	0	0	0	58	233
CFAP61	26074	broad.mit.edu	37	20	20279025	20279025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1139										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)		TCACAGATCTCTATAGGTGAG	0.463																																						ENST00000245957.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999968	0.990000	1.000000																										0				77						c.(3415-3417)ctC>ctT									58.0	53.0	55.0					20																	20279025		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr20:20279025C>T																												ENST00000245957.5:c.3417C>T	chr20.hg19:g.20279025C>T		0					C20orf26_ENST00000377309.2_3'UTR	p.L1139L	NM_015585.3	NP_056400.3	1	2	3	1.995265	Q8NHU2	CT026_HUMAN		25	3493	+			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	1	1	hg19	c.3417C>T	CCDS33447.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				25	25		119	117	1		1	0		0	0	38	0		9.999999e-01	0	0	0	0	1	0	25	119
CFAP61	26074	broad.mit.edu	37	20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1204										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)		AAAAGAGTTTTTGAGGAATCC	0.488											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3610-3612)tTt>tGt									154.0	158.0	157.0					20																	20340951		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr20:20340951T>G																												ENST00000245957.5:c.3611T>G	chr20.hg19:g.20340951T>G	ENSP00000245957:p.Phe1204Cys	0		OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	740	C20orf26_ENST00000377309.2_3'UTR	p.F1204C	NM_015585.3	NP_056400.3	1	2	3	1.995265	Q8NHU2	CT026_HUMAN		27	3687	+			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	1	1	hg19	c.3611T>G	CCDS33447.1	1	.	.	.	.	.	.	.	.	.	.	t	10.46	1.355205	0.24512	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11385	2.78	5.39	4.27	0.50696	5.39	4.27	0.50696	.	0.242001	0.29480	N	0.012021	T	0.19046	0.0457	L	0.40543	1.245	0.34156	D	0.668057	D	0.71674	0.998	P	0.58873	0.847	T	0.17899	-1.0354	10	0.59425	D	0.04	.	11.0362	0.47802	0.1397:0.0:0.0:0.8603	.	1204	Q8NHU2	CT026_HUMAN	C	1144;1170;1204	ENSP00000245957:F1204C	ENSP00000245957:F1204C	F	+	2	0	0	C20orf26	20288951	20288951	0.064000	0.20934	0.085000	0.20634	0.005000	0.04900	0.616000	0.24344	0.961000	0.38030	0.451000	0.29950	TTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	0	0	1		17	2	2	1		1	1	188		188	187	1	2.060000	-20.000000	1	0.170000				191	188		745	725	1		1			1	0	188	0		1	0	0	0	0	0	0	191	745
RALGAPA2	57186	broad.mit.edu	37	20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1129					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)			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						TGTAATGGCCTCATTTACTTC	0.428																																						ENST00000202677.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(3385-3387)gAg>gCg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							72.0	75.0	74.0					20																	20517328		1910	4129	6039	SO:0001583	missense	57186	0	0					g.chr20:20517328T>G	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.3386A>C	chr20.hg19:g.20517328T>G	ENSP00000202677:p.Glu1129Ala	0						p.E1129A	NM_020343.3	NP_065076.2	1	2	3	1.995265	Q2PPJ7	RGPA2_HUMAN		25	3393	-			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	1	1	hg19	c.3386A>C	CCDS46584.1	1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716597	0.15306	.	.	ENSG00000188559	ENST00000202677	D	0.94862	-3.54	5.63	3.17	0.36434	5.63	3.17	0.36434	.	0.167881	0.52532	D	0.000075	D	0.86690	0.5993	N	0.25485	0.75	0.36334	D	0.85907	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80204	-0.1479	10	0.08837	T	0.75	.	8.4392	0.32805	0.0:0.0699:0.1307:0.7994	.	967;1129	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	A	1129	ENSP00000202677:E1129A	ENSP00000202677:E1129A	E	-	2	0	0	RALGAPA2	20465328	20465328	0.989000	0.36119	0.128000	0.21923	0.055000	0.15305	2.923000	0.48868	2.150000	0.67090	0.455000	0.32223	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_020343			32	32		121	120	1		1	1		0	0	29	0		1	9.997662e-01	0	23	0	30	0	32	121
STK35	140901	broad.mit.edu	37	20	2097346	2097346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000246032.3_Silent_p.C176C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AGGAGCCCTGCTATCTCTGGT	0.473																																						ENST00000381482.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(925-927)tgC>tgT		serine/threonine kinase 35							193.0	183.0	186.0					20																	2097346		2203	4300	6503	SO:0001819	synonymous_variant	140901	1	121412	33				g.chr20:2097346C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.927C>T	chr20.hg19:g.2097346C>T		0					STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Silent_p.C176C	p.C309C			1	2	3	1.995265	Q8TDR2	STK35_HUMAN		3	1198	+			B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	1	1	hg19	c.927C>T	CCDS13024.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	0	0	1		19	3	2	1		1	1	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_080836			122	119		578	574	1		1	1		1	0	126	0		1	9.227927e-01	0	9	0	22	0	122	578
RALGAPA2	57186	broad.mit.edu	37	20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G	rs370779249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	186					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)			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						TTCTGGATATATCTTTACTGA	0.343																																						ENST00000202677.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(556-558)aTa>aCa		Ral GTPase activating protein, alpha subunit 2 (catalytic)		A	THR/ILE	0,3628		0,0,1814	97.0	90.0	92.0		557	5.7	1.0	20		92	1,8181		0,1,4090	no	missense	RALGAPA2	NM_020343.3	89	0,1,5904	GG,GA,AA		0.0122,0.0,0.0085	possibly-damaging	186/1874	20620538	1,11809	1814	4091	5905	SO:0001583	missense	57186	1	120786	26				g.chr20:20620538A>G	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.557T>C	chr20.hg19:g.20620538A>G	ENSP00000202677:p.Ile186Thr	0						p.I186T	NM_020343.3	NP_065076.2	1	2	3	1.995265	Q2PPJ7	RGPA2_HUMAN		7	564	-			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	1	1	hg19	c.557T>C	CCDS46584.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.27|14.27	2.484649|2.484649	0.44147|0.44147	0.0|0.0	1.22E-4|1.22E-4	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.68|5.68	5.68|5.68	0.88126|0.88126	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.144833|.	0.64402|.	D|.	0.000006|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.62723|0.62723	1.935|1.935	0.44780|0.44780	D|D	0.99778|0.99778	P|.	0.44627|.	0.839|.	B|.	0.33454|.	0.164|.	T|T	0.70615|0.70615	-0.4823|-0.4823	10|5	0.51188|.	T|.	0.08|.	.|.	15.6105|15.6105	0.76713|0.76713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q2PPJ7|.	RGPA2_HUMAN|.	T|H	186;38;38;186|3	ENSP00000202677:I186T;ENSP00000400901:I38T;ENSP00000412795:I186T|.	ENSP00000202677:I186T|.	I|Y	-|-	2|1	0|0	0|0	RALGAPA2|RALGAPA2	20568538|20568538	20568538|20568538	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.501000|0.501000	0.33797|0.33797	8.502000|8.502000	0.90505|0.90505	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	ATA|TAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_020343			91	90		376	369	1		1	1		0	0	95	0		1	9.192810e-01	0	3	0	17	0	91	376
XRN2	22803	broad.mit.edu	37	20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A	rs373315919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	29					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)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343																																						ENST00000377191.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				39						c.(85-87)tGc>tAc		5'-3' exoribonuclease 2		G	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	107.0	100.0	102.0		86	4.6	1.0	20		102	0,8600		0,0,4300	no	missense	XRN2	NM_012255.3	194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	29/951	21306927	1,13005	2203	4300	6503	SO:0001583	missense	22803	2	121410	36				g.chr20:21306927G>A	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.86G>A	chr20.hg19:g.21306927G>A	ENSP00000366396:p.Cys29Tyr	0					XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	p.C29Y	NM_012255.3	NP_036387.2	1	2	3	1.995265	Q9H0D6	XRN2_HUMAN		2	181	+			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	1	1	hg19	c.86G>A	CCDS13144.1	1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683201	0.14907	2.27E-4	0.0	ENSG00000088930	ENST00000377191	T	0.29397	1.57	5.62	4.64	0.57946	5.62	4.64	0.57946	Putative 5-3 exonuclease (1);	0.042575	0.85682	D	0.000000	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.07616	-1.0763	10	0.09590	T	0.72	-12.7852	15.9854	0.80147	0.0:0.0:0.8651:0.1349	.	29	Q9H0D6	XRN2_HUMAN	Y	29	ENSP00000366396:C29Y	ENSP00000366396:C29Y	C	+	2	0	0	XRN2	21254927	21254927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.648000	0.89879	0.650000	0.86243	TGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_012255			34	32		174	171	1		1	1		0	0	45	0		1	1	0	73	0	154	0	34	174
XRN2	22803	broad.mit.edu	37	20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	331					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)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418																																						ENST00000377191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(991-993)aGc>aTc		5'-3' exoribonuclease 2							297.0	273.0	281.0					20																	21314400		2203	4300	6503	SO:0001583	missense	22803	0	0					g.chr20:21314400G>T	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.992G>T	chr20.hg19:g.21314400G>T	ENSP00000366396:p.Ser331Ile	0					XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	p.S331I	NM_012255.3	NP_036387.2	1	2	3	1.995265	Q9H0D6	XRN2_HUMAN		11	1087	+			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	1	1	hg19	c.992G>T	CCDS13144.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009093	0.54361	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.25749	1.78;1.78;1.78	5.83	3.85	0.44370	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.05199	-0.095	0.80722	D	1	B	0.25441	0.126	B	0.18561	0.022	T	0.12708	-1.0537	10	0.02654	T	1	-15.4121	11.5221	0.50558	0.0655:0.0:0.8104:0.1241	.	331	Q9H0D6	XRN2_HUMAN	I	331;255;277	ENSP00000366396:S331I;ENSP00000413548:S255I;ENSP00000441113:S277I	ENSP00000366396:S331I	S	+	2	0	0	XRN2	21262400	21262400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	1.456000	0.47831	0.655000	0.94253	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1		2	2	2	0		0	0	252		252	250	1	2.060000	-20.000000	1	0.170000	NM_012255			260	258		1145	1127	1		1	1		0	0	252	0		1	1	0	89	0	231	0	260	1145
XRN2	22803	broad.mit.edu	37	20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	778					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)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443																																						ENST00000377191.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2332-2334)Gca>Tca		5'-3' exoribonuclease 2							95.0	94.0	94.0					20																	21346218		2203	4300	6503	SO:0001583	missense	22803	0	0					g.chr20:21346218G>T	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.2332G>T	chr20.hg19:g.21346218G>T	ENSP00000366396:p.Ala778Ser	0					XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	p.A778S	NM_012255.3	NP_036387.2	1	2	3	1.995265	Q9H0D6	XRN2_HUMAN		26	2427	+			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	1	1	hg19	c.2332G>T	CCDS13144.1	1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191333	0.21954	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.17854	2.25;2.25;2.25	5.95	4.02	0.46733	5.95	4.02	0.46733	.	0.315883	0.38837	N	0.001552	T	0.07999	0.0200	N	0.16903	0.455	0.26128	N	0.980453	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.09084	T	0.74	-5.6952	5.5639	0.17160	0.1286:0.1125:0.6428:0.1161	.	778	Q9H0D6	XRN2_HUMAN	S	778;702;724	ENSP00000366396:A778S;ENSP00000413548:A702S;ENSP00000441113:A724S	ENSP00000366396:A778S	A	+	1	0	0	XRN2	21294218	21294218	0.996000	0.38824	0.998000	0.56505	0.486000	0.33341	0.564000	0.23563	0.867000	0.35654	-0.136000	0.14681	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000	NM_012255			67	66		345	338	1		1	1		0	0	81	0		1	1	0	94	0	238	0	67	345
NKX2-4	644524	broad.mit.edu	37	20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	255					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTGCTGCAGCTGCTGCGCCGC	0.701																																						ENST00000351817.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999802	0.990000	1.000000																										0				3						c.(763-765)cAg>cCg		NK2 homeobox 4							21.0	20.0	20.0					20																	21376850		2199	4300	6499	SO:0001583	missense	644524	0	0					g.chr20:21376850T>G		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.764A>C	chr20.hg19:g.21376850T>G	ENSP00000345147:p.Gln255Pro	0					RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	p.Q255P	NM_033176.1	NP_149416.1	1	2	3	1.995265	Q9H2Z4	NKX24_HUMAN		2	1392	-			Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	1	1	hg19	c.764A>C	CCDS42855.1	1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497531	0.44455	.	.	ENSG00000125816	ENST00000351817	D	0.92099	-2.97	3.6	2.42	0.29668	3.6	2.42	0.29668	.	0.000000	0.38663	U	0.001620	D	0.92028	0.7474	L	0.60455	1.87	0.47994	D	0.99956	D	0.53885	0.963	P	0.55785	0.784	D	0.88340	0.2974	10	0.30854	T	0.27	.	9.2714	0.37673	0.0:0.0:0.1828:0.8172	.	255	Q9H2Z4	NKX24_HUMAN	P	255	ENSP00000345147:Q255P	ENSP00000345147:Q255P	Q	-	2	0	0	NKX2-4	21324850	21324850	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.288000	0.78691	0.402000	0.25451	0.397000	0.26171	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000				15	15		59	59	0		1			0	0	16	0		9.999308e-01	0	0	0	0	0	0	15	59
NKX2-2	4821	broad.mit.edu	37	20	21492786	21492786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	199					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672																																						ENST00000377142.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.991879	0.990000	1.000000																										0				21						c.(595-597)tcG>tcA		NK2 homeobox 2							32.0	36.0	35.0					20																	21492786		2202	4299	6501	SO:0001819	synonymous_variant	4821	0	0					g.chr20:21492786C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.597G>A	chr20.hg19:g.21492786C>T		0					NKX2-2-AS1_ENST00000549659.1_RNA	p.S199S	NM_002509.3	NP_002500.1	1	2	3	1.995265	O95096	NKX22_HUMAN		2	953	-				Silent	SNP	ENST00000377142.4	1	1	hg19	c.597G>A	CCDS13145.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				30	30		253	248	0		1	0		0	0	34	0		1	3.778761e-01	0	0	0	12	0	30	253
TGM3	7053	broad.mit.edu	37	20	2298000	2298000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	284					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)			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)	TTGCAGCGCTGCGGTCTTTGG	0.577																																						ENST00000381458.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(850-852)ctG>ctA		transglutaminase 3	L-Glutamine(DB00130)						137.0	118.0	124.0					20																	2298000		2203	4300	6503	SO:0001819	synonymous_variant	7053	0	0					g.chr20:2298000G>A	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.852G>A	chr20.hg19:g.2298000G>A		0					TGM3_ENST00000463090.1_3'UTR	p.L284L	NM_003245.3	NP_003236.3	1	2	3	1.995265	Q08188	TGM3_HUMAN		7	915	+			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	1	1	hg19	c.852G>A	CCDS33435.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	0	0	0		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_003245			103	98		526	514	1		1			0	0	115	0		1	0	0	0	0	0	0	103	526
NKX2-2	4821	broad.mit.edu	37	20	21494152	21494152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	52					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687																																						ENST00000377142.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(154-156)gcC>gcT		NK2 homeobox 2							34.0	31.0	32.0					20																	21494152		2201	4299	6500	SO:0001819	synonymous_variant	4821	0	0					g.chr20:21494152G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.156C>T	chr20.hg19:g.21494152G>A		0					NKX2-2-AS1_ENST00000549659.1_RNA	p.A52A	NM_002509.3	NP_002500.1	1	2	3	1.995265	O95096	NKX22_HUMAN		1	512	-				Silent	SNP	ENST00000377142.4	1	1	hg19	c.156C>T	CCDS13145.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000				50	49		173	166	0		1	0		0	0	28	0		1	3.184873e-01	0	0	0	5	0	50	173
SSTR4	6754	broad.mit.edu	37	20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	80					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|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)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T80M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGATGAAGACGGCTACCAAC	0.632																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T80M(1)	large_intestine(1)	32						c.(238-240)aCg>aTg		somatostatin receptor 4							128.0	135.0	133.0					20																	23016359		2203	4300	6503	SO:0001583	missense	6754	0	0					g.chr20:23016359C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.239C>T	chr20.hg19:g.23016359C>T	ENSP00000255008:p.Thr80Met	0					RP4-753D10.3_ENST00000440921.1_RNA	p.T80M	NM_001052.2	NP_001043.2	1	2	3	1.995265	P31391	SSR4_HUMAN		1	303	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	1	1	hg19	c.239C>T	CCDS42856.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223631	0.79576	.	.	ENSG00000132671	ENST00000255008	T	0.46819	0.86	3.58	3.58	0.41010	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.74222	0.3688	M	0.92970	3.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.82368	-0.0492	10	0.87932	D	0	.	14.3291	0.66541	0.0:1.0:0.0:0.0	.	80	P31391	SSR4_HUMAN	M	80	ENSP00000255008:T80M	ENSP00000255008:T80M	T	+	2	0	0	SSTR4	22964359	22964359	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.256000	0.65468	1.811000	0.52892	0.561000	0.74099	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	0		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000				166	165		807	796	1		1			0	0	155	0		1	0	0	0	0	0	0	166	807
SSTR4	6754	broad.mit.edu	37	20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|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)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCGCCCTGCGCCACTGGCC	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999285	0.990000	1.000000																										0				32						c.(328-330)Cgc>Tgc		somatostatin receptor 4							85.0	85.0	85.0					20																	23016448		2201	4297	6498	SO:0001583	missense	6754	2	121224	36				g.chr20:23016448C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.328C>T	chr20.hg19:g.23016448C>T	ENSP00000255008:p.Arg110Cys	0					RP4-753D10.3_ENST00000440921.1_RNA	p.R110C	NM_001052.2	NP_001043.2	1	2	3	1.995265	P31391	SSR4_HUMAN		1	392	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	1	1	hg19	c.328C>T	CCDS42856.1	1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357829	0.61403	.	.	ENSG00000132671	ENST00000255008	T	0.20463	2.07	3.73	2.78	0.32641	3.73	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.39064	0.1064	M	0.76328	2.33	0.39071	D	0.96071	D	0.61697	0.99	P	0.61658	0.892	T	0.31530	-0.9940	10	0.51188	T	0.08	.	9.8498	0.41051	0.0:0.8954:0.0:0.1045	.	110	P31391	SSR4_HUMAN	C	110	ENSP00000255008:R110C	ENSP00000255008:R110C	R	+	1	0	0	SSTR4	22964448	22964448	0.663000	0.27448	0.988000	0.46212	0.966000	0.64601	1.491000	0.35583	0.765000	0.33221	0.561000	0.74099	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	0		2	2	2	0		0	0	153		153	152	1	2.060000	-20.000000	1	0.170000				90	90		769	758	1		1			0	0	153	0		1	0	0	0	0	0	0	90	769
SSTR4	6754	broad.mit.edu	37	20	23016594	23016594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	158					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|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)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACCTACCGGCGGCCCAGCG	0.662																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(472-474)cgG>cgA		somatostatin receptor 4							44.0	49.0	47.0					20																	23016594		2198	4293	6491	SO:0001819	synonymous_variant	6754	0	0					g.chr20:23016594G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.474G>A	chr20.hg19:g.23016594G>A		0					RP4-753D10.3_ENST00000440921.1_RNA	p.R158R	NM_001052.2	NP_001043.2	1	2	3	1.995265	P31391	SSR4_HUMAN		1	538	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	1	1	hg19	c.474G>A	CCDS42856.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	0		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000				107	105		420	417	1		1			0	0	63	0		1	0	0	0	0	0	0	107	420
SSTR4	6754	broad.mit.edu	37	20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	177					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|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)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCCTGTTGGTCACTCTCCCC	0.706																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(529-531)gTc>gAc		somatostatin receptor 4							48.0	54.0	52.0					20																	23016650		2195	4284	6479	SO:0001583	missense	6754	0	0					g.chr20:23016650T>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.530T>A	chr20.hg19:g.23016650T>A	ENSP00000255008:p.Val177Asp	0					RP4-753D10.3_ENST00000440921.1_RNA	p.V177D	NM_001052.2	NP_001043.2	1	2	3	1.995265	P31391	SSR4_HUMAN		1	594	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	1	1	hg19	c.530T>A	CCDS42856.1	1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114789	0.56505	.	.	ENSG00000132671	ENST00000255008	T	0.74421	-0.84	3.87	3.87	0.44632	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.87549	0.6205	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89683	0.3892	10	0.87932	D	0	.	11.6214	0.51119	0.0:0.0:0.0:1.0	.	177	P31391	SSR4_HUMAN	D	177	ENSP00000255008:V177D	ENSP00000255008:V177D	V	+	2	0	0	SSTR4	22964650	22964650	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.361000	0.59461	1.603000	0.50134	0.533000	0.62120	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	0		2	2	2	0		0	0	83		83	67	1	2.060000	-20.000000	1	0.170000				113	104		481	426	1		1			0	0	83	0		1	0	0	0	0	0	0	113	481
THBD	7056	broad.mit.edu	37	20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	424	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGCACTCACAGCTAGCCTGGG	0.627																																						ENST00000377103.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(1270-1272)agC>agA		thrombomodulin	Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)						62.0	57.0	59.0					20																	23028870		2203	4300	6503	SO:0001583	missense	7056	0	0					g.chr20:23028870G>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1272C>A	chr20.hg19:g.23028870G>T	ENSP00000366307:p.Ser424Arg	0						p.S424R	NM_000361.2	NP_000352.1	1	2	3	1.995265	P07204	TRBM_HUMAN		1	1508	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	1	1	hg19	c.1272C>A	CCDS13148.1	1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734723	0.03111	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80033	-1.33	4.82	0.818	0.18778	4.82	0.818	0.18778	Epidermal growth factor-like (1);Thrombomodulin-like, EGF-like (1);	3.352840	0.01083	N	0.005028	T	0.67887	0.2941	L	0.40543	1.245	0.09310	N	0.999991	B	0.33755	0.424	B	0.23018	0.043	T	0.49753	-0.8906	10	0.13470	T	0.59	1.1772	4.183	0.10385	0.313:0.0:0.531:0.156	.	424	P07204	TRBM_HUMAN	R	424;406	ENSP00000366307:S424R	ENSP00000366307:S424R	S	-	3	2	2	THBD	22976870	22976870	0.015000	0.18098	0.003000	0.11579	0.004000	0.04260	0.108000	0.15396	-0.124000	0.11724	0.561000	0.74099	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	1	0	0		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000				63	63		375	367	1		1	1		0	0	90	0		1	9.989860e-01	0	8	0	55	0	63	375
THBD	7056	broad.mit.edu	37	20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	404	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AAAACATCTGGCACCTGTGCG	0.617																																						ENST00000377103.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1210-1212)tgC>tgA		thrombomodulin	Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)						57.0	55.0	55.0					20																	23028930		2203	4300	6503	SO:0001587	stop_gained	7056	0	0					g.chr20:23028930G>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1212C>A	chr20.hg19:g.23028930G>T	ENSP00000366307:p.Cys404*	0						p.C404*	NM_000361.2	NP_000352.1	1	2	3	1.995265	P07204	TRBM_HUMAN		1	1448	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q8IV29|Q9UC32	Nonsense_Mutation	SNP	ENST00000377103.2	0	1	hg19	c.1212C>A	CCDS13148.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.097120	0.97281	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	.	.	.	4.82	0.672	0.17935	4.82	0.672	0.17935	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5519	10.665	0.45726	0.3007:0.0:0.6993:0.0	.	.	.	.	X	404;386	.	ENSP00000366307:C404X	C	-	3	2	2	THBD	22976930	22976930	0.014000	0.17966	0.743000	0.31040	0.578000	0.36192	0.062000	0.14389	-0.093000	0.12396	-1.134000	0.01955	TGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	1	0	0		2	2	2	0		0	0	105		105	101	1	2.060000	-20.000000	1	0.170000				83	79		412	398	1		1	1		0	0	105	0		1	9.829919e-01	0	3	0	31	0	83	412
THBD	7056	broad.mit.edu	37	20	23029298	23029298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23029298C>T	ENST00000377103.2	-	1	1080	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	282					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GTCGCGGATGCGGTGCAGGAG	0.711																																						ENST00000377103.2	1.000000	0.330000	1	5.300000e-01	0.800000	0.776397	0.800000	1.000000																										0				7						c.(844-846)Gca>Aca		thrombomodulin	Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)						14.0	14.0	14.0					20																	23029298		2177	4274	6451	SO:0001583	missense	7056	0	0					g.chr20:23029298C>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.844G>A	chr20.hg19:g.23029298C>T	ENSP00000366307:p.Ala282Thr	0						p.A282T	NM_000361.2	NP_000352.1	1	2	3	1.995265	P07204	TRBM_HUMAN		1	1080	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	0	1	hg19	c.844G>A	CCDS13148.1	0	.	.	.	.	.	.	.	.	.	.	C	3.938	-0.014850	0.07681	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.87412	-2.25	4.97	-6.89	0.01660	4.97	-6.89	0.01660	.	20.087100	0.00951	N	0.002973	T	0.71434	0.3339	N	0.17248	0.465	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.58618	-0.7605	10	0.25751	T	0.34	0.825	2.2655	0.04077	0.1731:0.1485:0.3999:0.2785	.	282	P07204	TRBM_HUMAN	T	282;264	ENSP00000366307:A282T	ENSP00000366307:A282T	A	-	1	0	0	THBD	22977298	22977298	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.243000	0.02905	-0.791000	0.04486	0.449000	0.29647	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-10.431030	1	0.170000				6	5		88	87	0		1	0		0	0	12	0		9.642805e-01	1.677329e-01	0	1	0	9	0	6	88
CD93	22918	broad.mit.edu	37	20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {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)			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)					GACGCACGTGGCCCCCCCACG	0.632																																						ENST00000246006.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(943-945)gCc>gTc		CD93 molecule							42.0	46.0	45.0					20																	23065886		2203	4300	6503	SO:0001583	missense	22918	0	0					g.chr20:23065886G>A	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.944C>T	chr20.hg19:g.23065886G>A	ENSP00000246006:p.Ala315Val	0						p.A315V	NM_012072.3	NP_036204.2	1	2	3	1.995265	Q9NPY3	C1QR1_HUMAN		1	1091	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		O00274	Missense_Mutation	SNP	ENST00000246006.4	1	1	hg19	c.944C>T	CCDS13149.1	1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373803	0.24857	.	.	ENSG00000125810	ENST00000246006	D	0.88431	-2.38	5.42	4.45	0.53987	5.42	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115159	0.38778	N	0.001580	D	0.86665	0.5987	M	0.83483	2.645	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.73757	-0.3882	10	0.17832	T	0.49	-22.1666	8.9853	0.35990	0.076:0.0:0.7781:0.1459	.	315	Q9NPY3	C1QR1_HUMAN	V	315	ENSP00000246006:A315V	ENSP00000246006:A315V	A	-	2	0	0	CD93	23013886	23013886	0.009000	0.17119	0.024000	0.17045	0.049000	0.14656	1.116000	0.31221	1.386000	0.46466	0.650000	0.86243	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	0	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-1.767380	0	0.170000	NM_012072			80	79		402	398	1		1	0		0	0	74	0		1	9.999999e-01	0	0	0	115	0	80	402
CD93	22918	broad.mit.edu	37	20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	127	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)			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)					CTTGTGCCAGTTAGAGTAAGG	0.642																																						ENST00000246006.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999336	0.990000	1.000000																										0				39						c.(379-381)aAc>aGc		CD93 molecule							23.0	27.0	26.0					20																	23066450		2202	4298	6500	SO:0001583	missense	22918	0	0					g.chr20:23066450T>C	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.380A>G	chr20.hg19:g.23066450T>C	ENSP00000246006:p.Asn127Ser	0						p.N127S	NM_012072.3	NP_036204.2	1	2	3	1.995265	Q9NPY3	C1QR1_HUMAN		1	527	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		O00274	Missense_Mutation	SNP	ENST00000246006.4	1	1	hg19	c.380A>G	CCDS13149.1	1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598365	0.66332	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.20463	2.07	5.49	5.49	0.81192	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.184763	0.37857	N	0.001901	T	0.42517	0.1206	M	0.64080	1.96	0.42882	D	0.994172	D	0.89917	1.0	D	0.76071	0.987	T	0.34179	-0.9839	10	0.66056	D	0.02	-56.0508	12.2766	0.54739	0.0:0.0:0.1411:0.8589	.	127	Q9NPY3	C1QR1_HUMAN	S	127	ENSP00000246006:N127S	ENSP00000246006:N127S	N	-	2	0	0	CD93	23014450	23014450	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	1.684000	0.37649	2.194000	0.70268	0.533000	0.62120	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_012072			18	18		98	95	0		1	0		0	0	25	0		9.999865e-01	9.917561e-01	0	0	0	46	0	18	98
CD93	22918	broad.mit.edu	37	20	23066551	23066551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)			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)					GCCCAATCCAGAACTTGCTCA	0.647																																						ENST00000246006.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999544	0.990000	1.000000																										0				39						c.(277-279)ttC>ttT		CD93 molecule							39.0	30.0	33.0					20																	23066551		2203	4298	6501	SO:0001819	synonymous_variant	22918	0	0					g.chr20:23066551G>A	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.279C>T	chr20.hg19:g.23066551G>A		0						p.F93F	NM_012072.3	NP_036204.2	1	2	3	1.995265	Q9NPY3	C1QR1_HUMAN		1	426	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		O00274	Silent	SNP	ENST00000246006.4	1	1	hg19	c.279C>T	CCDS13149.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_012072			14	14		60	60	1		1	0		0	0	13	0		9.998552e-01	9.984437e-01	0	0	0	52	0	14	60
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	G	A	rs540980778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	437					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)			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)	TGGACGTCACGGACAAGTACA	0.567																																						ENST00000381458.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1309-1311)acG>acA		transglutaminase 3	L-Glutamine(DB00130)						87.0	72.0	77.0					20																	2308989		2203	4300	6503	SO:0001819	synonymous_variant	7053	1	121412	31				g.chr20:2308989G>A	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.1311G>A	chr20.hg19:g.2308989G>A		0						p.T437T	NM_003245.3	NP_003236.3	1	2	3	1.995265	Q08188	TGM3_HUMAN		9	1374	+			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	1	1	hg19	c.1311G>A	CCDS33435.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.044849	1	0.170000	NM_003245			44	41		199	194	1		1	0		0	0	65	0		1	3.434545e-02	0	1	0	1	0	44	199
CD93	22918	broad.mit.edu	37	20	23066662	23066662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	56	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)			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)					GGTTGCCCCCGTTCTGGTTGC	0.687																																						ENST00000246006.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998063	0.990000	1.000000																										0				39						c.(166-168)aaC>aaT		CD93 molecule							38.0	31.0	33.0					20																	23066662		2203	4300	6503	SO:0001819	synonymous_variant	22918	0	0					g.chr20:23066662G>A	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.168C>T	chr20.hg19:g.23066662G>A		0						p.N56N	NM_012072.3	NP_036204.2	1	2	3	1.995265	Q9NPY3	C1QR1_HUMAN		1	315	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		O00274	Silent	SNP	ENST00000246006.4	0	1	hg19	c.168C>T	CCDS13149.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.999990	1	0.170000	NM_012072			15	15		86	84	1		1	0		0	0	11	0		9.999013e-01	9.978360e-01	0	0	0	63	0	15	86
NXT1	29107	broad.mit.edu	37	20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RP3-322G13.7_ENST00000442884.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	134	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542																																						ENST00000254998.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(400-402)cGc>cAc		nuclear transport factor 2-like export factor 1							41.0	39.0	40.0					20																	23335079		2203	4300	6503	SO:0001583	missense	29107	0	0					g.chr20:23335079G>A	AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.401G>A	chr20.hg19:g.23335079G>A	ENSP00000254998:p.Arg134His	0					RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.7_ENST00000442884.1_RNA	p.R134H	NM_013248.2	NP_037380.1	1	2	3	1.995265	Q9UKK6	NXT1_HUMAN		2	788	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)			Missense_Mutation	SNP	ENST00000254998.2	1	1	hg19	c.401G>A	CCDS13150.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105331	0.77096	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.22	2.17	0.27698	5.22	2.17	0.27698	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.116909	0.56097	D	0.000030	T	0.81004	0.4733	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79876	-0.1618	9	0.87932	D	0	.	6.9031	0.24293	0.1619:0.1449:0.6931:0.0	.	134	Q9UKK6	NXT1_HUMAN	H	134	.	ENSP00000254998:R134H	R	+	2	0	0	NXT1	23283079	23283079	1.000000	0.71417	0.940000	0.37924	0.968000	0.65278	9.069000	0.93967	0.438000	0.26450	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_013248			46	44		179	178	1		1	1		0	0	60	0		1	1	0	73	0	152	0	46	179
GZF1	64412	broad.mit.edu	37	20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.P236S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	236					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTGGAGATCCCTAAAAAGAA	0.507																																						ENST00000338121.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(706-708)Cct>Tct		GDNF-inducible zinc finger protein 1							41.0	48.0	46.0					20																	23345726		2203	4300	6503	SO:0001583	missense	64412	0	0					g.chr20:23345726C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.706C>T	chr20.hg19:g.23345726C>T	ENSP00000338290:p.Pro236Ser	0					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.P236S	p.P236S			1	2	3	1.995265	Q9H116	GZF1_HUMAN		2	783	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	1	1	hg19	c.706C>T	CCDS13151.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450553	0.43531	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09538	2.97;2.97	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000024	T	0.20577	0.0495	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04961	-1.0915	10	0.11182	T	0.66	.	15.6958	0.77494	0.0:1.0:0.0:0.0	.	236	Q9H116	GZF1_HUMAN	S	236	ENSP00000338290:P236S;ENSP00000366250:P236S	ENSP00000338290:P236S	P	+	1	0	0	GZF1	23293726	23293726	0.549000	0.26481	1.000000	0.80357	0.383000	0.30230	3.029000	0.49712	2.245000	0.73994	0.544000	0.68410	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.946914	1	0.170000	NM_022482			54	53		245	240	1		1	1		0	0	58	0		1	9.925935e-01	0	2	0	35	0	54	245
GZF1	64412	broad.mit.edu	37	20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	340					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGCACCGCCACGGCGTGGCC	0.592																																						ENST00000338121.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1018-1020)cAc>cGc		GDNF-inducible zinc finger protein 1							66.0	69.0	68.0					20																	23346039		2203	4300	6503	SO:0001583	missense	64412	0	0					g.chr20:23346039A>G	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1019A>G	chr20.hg19:g.23346039A>G	ENSP00000338290:p.His340Arg	0					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R	p.H340R			1	2	3	1.995265	Q9H116	GZF1_HUMAN		2	1096	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	1	1	hg19	c.1019A>G	CCDS13151.1	1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914995	0.17907	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.28895	1.59;1.59	4.15	4.15	0.48705	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000006	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05784	-1.0864	10	0.59425	D	0.04	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	340	Q9H116	GZF1_HUMAN	R	340	ENSP00000338290:H340R;ENSP00000366250:H340R	ENSP00000338290:H340R	H	+	2	0	0	GZF1	23294039	23294039	1.000000	0.71417	0.536000	0.28039	0.013000	0.08279	9.087000	0.94110	1.879000	0.54435	0.455000	0.32223	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	0	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_022482			106	106		597	584	1		1	1		0	0	119	0		1	8.794344e-01	0	6	0	17	0	106	597
GZF1	64412	broad.mit.edu	37	20	23350348	23350348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000377051.2_Silent_p.T585T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	585					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGACATTCACCGACAAGTCCA	0.572																																						ENST00000338121.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1753-1755)acC>acT		GDNF-inducible zinc finger protein 1							99.0	79.0	86.0					20																	23350348		2203	4300	6503	SO:0001819	synonymous_variant	64412	1	121412	31				g.chr20:23350348C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1755C>T	chr20.hg19:g.23350348C>T		0					GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000377051.2_Silent_p.T585T	p.T585T			1	2	3	1.995265	Q9H116	GZF1_HUMAN		5	1832	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	1	1	hg19	c.1755C>T	CCDS13151.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	0		2	2	2	0		0	0	98		98	98	1	2.060000	-2.594753	1	0.170000	NM_022482			75	74		360	351	1		1	1		0	0	98	0		1	9.982887e-01	0	10	0	38	0	75	360
GZF1	64412	broad.mit.edu	37	20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000377051.2_Missense_Mutation_p.R591W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	591					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTCCACTCTTCGGCGGCACAC	0.562																																						ENST00000338121.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1771-1773)Cgg>Tgg		GDNF-inducible zinc finger protein 1							86.0	68.0	74.0					20																	23350364		2203	4300	6503	SO:0001583	missense	64412	0	0					g.chr20:23350364C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1771C>T	chr20.hg19:g.23350364C>T	ENSP00000338290:p.Arg591Trp	0					GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000377051.2_Missense_Mutation_p.R591W	p.R591W			1	2	3	1.995265	Q9H116	GZF1_HUMAN		5	1848	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	1	1	hg19	c.1771C>T	CCDS13151.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869343	0.91587	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.35973	3.16;1.28;3.16;1.28	5.95	5.0	0.66597	5.95	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.58119	0.2100	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57763	-0.7755	10	0.37606	T	0.19	.	15.7072	0.77592	0.1377:0.8623:0.0:0.0	.	591	Q9H116	GZF1_HUMAN	W	115;591;100;591	ENSP00000445458:R115W;ENSP00000338290:R591W;ENSP00000445118:R100W;ENSP00000366250:R591W	ENSP00000338290:R591W	R	+	1	2	2	GZF1	23298364	23298364	0.988000	0.35896	0.996000	0.52242	0.969000	0.65631	4.887000	0.63156	1.507000	0.48752	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-3.133733	1	0.170000	NM_022482			66	66		310	304	1		1	1		0	0	92	0		1	9.884021e-01	0	4	0	31	0	66	310
GZF1	64412	broad.mit.edu	37	20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000377051.2_Missense_Mutation_p.K599T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	599					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATACACGATAAGAATACTCCA	0.403																																						ENST00000338121.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1795-1797)aAg>aCg		GDNF-inducible zinc finger protein 1							50.0	50.0	50.0					20																	23350738		2203	4300	6503	SO:0001583	missense	64412	0	0					g.chr20:23350738A>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1796A>C	chr20.hg19:g.23350738A>C	ENSP00000338290:p.Lys599Thr	0					GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000377051.2_Missense_Mutation_p.K599T	p.K599T			1	2	3	1.995265	Q9H116	GZF1_HUMAN		6	1873	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	1	1	hg19	c.1796A>C	CCDS13151.1	1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671775	0.67928	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.11385	3.2;2.78;3.2;2.78	5.92	5.92	0.95590	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.23330	0.0564	L	0.28740	0.885	0.51012	D	0.999908	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.72032	D	0.01	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	599	Q9H116	GZF1_HUMAN	T	123;599;108;599	ENSP00000445458:K123T;ENSP00000338290:K599T;ENSP00000445118:K108T;ENSP00000366250:K599T	ENSP00000338290:K599T	K	+	2	0	0	GZF1	23298738	23298738	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.209000	0.58493	2.263000	0.75096	0.533000	0.62120	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_022482			42	40		167	164	1		1	1		0	0	41	0		1	9.815461e-01	0	7	0	21	0	42	167
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(136-138)gaC>gaT		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001819	synonymous_variant	140880	0	0					g.chr20:23433311G>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>T	chr20.hg19:g.23433311G>A		0					CST11_ENST00000377007.3_Silent_p.D46D	p.D46D	NM_130794.1	NP_570612.1	1	2	3	1.995265	Q9H112	CST11_HUMAN		1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	1	1	hg19	c.138C>T	CCDS13155.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	NM_130794			172	170		660	647	1		1			0	0	150	0		1	0	0	0	0	0	0	172	660
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	45						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522																																						ENST00000376979.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.992858	0.990000	1.000000																										0				8						c.(133-135)Cgt>Tgt		cystatin 9-like							153.0	120.0	131.0					20																	23548955		2203	4300	6503	SO:0001583	missense	128821	3	121394	33				g.chr20:23548955G>A		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.133C>T	chr20.hg19:g.23548955G>A	ENSP00000366178:p.Arg45Cys	0						p.R45C	NM_080610.2	NP_542177.1	1	2	3	1.995265	Q9H4G1	CST9L_HUMAN		1	431	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	1	1	hg19	c.133C>T	CCDS13157.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925552	0.52759	.	.	ENSG00000101435	ENST00000376979	T	0.12984	2.63	1.75	-3.11	0.05299	1.75	-3.11	0.05299	Proteinase inhibitor I25, cystatin (1);	12.943200	0.00166	N	0.000000	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56088	0.791	T	0.18023	-1.0350	10	0.59425	D	0.04	.	4.0382	0.09740	0.0:0.2234:0.3274:0.4491	.	45	Q9H4G1	CST9L_HUMAN	C	45	ENSP00000366178:R45C	ENSP00000366178:R45C	R	-	1	0	0	CST9L	23496955	23496955	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-3.436000	0.00471	-0.674000	0.05253	0.313000	0.20887	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	1	0	1		2	2	2	0		0	0	65		65	62	1	2.060000	-3.318818	1	0.170000	NM_080610			28	26		230	218	1		1			0	0	65	0		1	0	0	0	0	0	0	28	230
CST9L	128821	broad.mit.edu	37	20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	2						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577																																						ENST00000376979.3	1.000000	0.430000	1	6.200000e-01	0.870000	0.830473	0.870000	1.000000																										0				8						c.(4-6)Ctg>Atg		cystatin 9-like							58.0	55.0	56.0					20																	23549084		2203	4300	6503	SO:0001583	missense	128821	0	0					g.chr20:23549084G>T		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.4C>A	chr20.hg19:g.23549084G>T	ENSP00000366178:p.Leu2Met	0						p.L2M	NM_080610.2	NP_542177.1	1	2	3	1.995265	Q9H4G1	CST9L_HUMAN		1	302	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	0	1	hg19	c.4C>A	CCDS13157.1	1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962408	0.18583	.	.	ENSG00000101435	ENST00000376979	T	0.14516	2.5	1.94	-3.45	0.04781	1.94	-3.45	0.04781	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40440	-0.9563	9	0.21014	T	0.42	.	2.7249	0.05211	0.4778:0.0:0.3052:0.217	.	2	Q9H4G1	CST9L_HUMAN	M	2	ENSP00000366178:L2M	ENSP00000366178:L2M	L	-	1	2	2	CST9L	23497084	23497084	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.321000	0.02697	-0.956000	0.03631	0.313000	0.20887	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-14.030420	1	0.170000	NM_080610			9	9		118	113	0		1			0	0	19	0		9.936989e-01	0	0	0	0	0	0	9	118
CST3	1471	broad.mit.edu	37	20	23614613	23614613	+	Silent	SNP	G	G	T	rs1135147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23614613G>T	ENST00000398411.1	-	3	463	c.381C>A	c.(379-381)atC>atA	p.I127I	CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	127					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)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACAGCGTAGATCTGGAAAG	0.532																																						ENST00000398411.1	1.000000	0.180000	5.400000e-01	2.700000e-01	0.380000	0.424069	0.380000	0.360000																										0				4						c.(379-381)atC>atA		cystatin C							158.0	122.0	134.0					20																	23614613		2203	4300	6503	SO:0001819	synonymous_variant	1471	0	0					g.chr20:23614613G>T		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.381C>A	chr20.hg19:g.23614613G>T		0					CST3_ENST00000376925.3_Silent_p.I127I|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000398409.1_Silent_p.I127I	p.I127I			1	2	3	1.995265	P01034	CYTC_HUMAN		3	463	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	0	1	hg19	c.381C>A	CCDS13158.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-9.686800	1	0.170000	NM_000099			9	9		283	280	0		1	1		0	0	81	0		9.941425e-01	1	0	52	0	5386	0	9	283
CST2	1470	broad.mit.edu	37	20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(196-198)Cgc>Tgc		cystatin SA		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	105.0	85.0	92.0		196	0.9	0.0	20	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CST2	NM_001322.2	180	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	possibly-damaging	66/142	23807102	6,13000	2203	4300	6503	SO:0001583	missense	1470	21	121412	47				g.chr20:23807102G>A	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.196C>T	chr20.hg19:g.23807102G>A	ENSP00000307540:p.Arg66Cys	0						p.R66C	NM_001322.2	NP_001313.1	1	2	3	1.995265	P09228	CYTT_HUMAN		1	266	-			Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	1	1	hg19	c.196C>T	CCDS13161.1	1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	0	CST2	23755102	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				43	43		222	220	1		1	0		0	0	46	0		1	1	0	0	0	551	0	43	222
TGM6	343641	broad.mit.edu	37	20	2384147	2384147	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602																																						ENST00000202625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.e8+1		transglutaminase 6	L-Glutamine(DB00130)						69.0	67.0	67.0					20																	2384147		2203	4300	6503	SO:0001630	splice_region_variant	343641	0	0					g.chr20:2384147G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1093+1G>T	chr20.hg19:g.2384147G>T		0					TGM6_ENST00000381423.1_Splice_Site		NM_198994.2	NP_945345.2	1	2	3	1.995265	O95932	TGM3L_HUMAN		8	1154	+			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Splice_Site	SNP	ENST00000202625.2	1	1	hg19		CCDS13025.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336713	0.60963	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.9	4.9	0.64082	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0187	0.80464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TGM6	2332147	2332147	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.866000	0.99616	2.735000	0.93741	0.549000	0.68633	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000	NM_198994	Intron		110	110		436	427	1		1			0	0	89	0		1	0	0	0	0	0	0	110	436
TGM6	343641	broad.mit.edu	37	20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	497					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652																																						ENST00000202625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1489-1491)gGc>gAc		transglutaminase 6	L-Glutamine(DB00130)						43.0	39.0	40.0					20																	2398031		2203	4300	6503	SO:0001583	missense	343641	0	0					g.chr20:2398031G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1490G>A	chr20.hg19:g.2398031G>A	ENSP00000202625:p.Gly497Asp	0					TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	p.G497D	NM_198994.2	NP_945345.2	1	2	3	1.995265	O95932	TGM3L_HUMAN		10	1551	+			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	1	1	hg19	c.1490G>A	CCDS13025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195447	0.58126	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.68624	-0.34;-0.34	4.67	4.67	0.58626	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000004	T	0.80813	0.4695	M	0.79258	2.445	0.42971	D	0.994436	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83263	-0.0047	10	0.72032	D	0.01	-38.5886	12.9459	0.58371	0.0:0.0:1.0:0.0	.	497;497	O95932-2;O95932	.;TGM3L_HUMAN	D	497	ENSP00000202625:G497D;ENSP00000370831:G497D	ENSP00000202625:G497D	G	+	2	0	0	TGM6	2346031	2346031	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.429000	0.66495	2.437000	0.82529	0.655000	0.94253	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_198994			42	42		148	147	1		1			0	0	32	0		1	0	0	0	0	0	0	42	148
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R584*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	0.522																																						ENST00000278772.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R584*(1)	large_intestine(1)	25						c.(1750-1752)Cga>Tga		zinc finger protein 343							101.0	83.0	89.0					20																	2463857		2203	4300	6503	SO:0001587	stop_gained	79175	2	121412	29				g.chr20:2463857G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1750C>T	chr20.hg19:g.2463857G>A	ENSP00000278772:p.Arg584*	0					RP4-734P14.4_ENST00000461548.1_Intron	p.R584*	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	1	2	3	1.995265	Q6P1L6	ZN343_HUMAN		6	2237	-			Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	ENST00000278772.4	0	1	hg19	c.1750C>T	CCDS13028.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.002011	0.97994	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.65	0.578	0.17391	2.65	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.4345	0.04479	0.2901:0.0:0.4746:0.2353	.	.	.	.	X	584	.	ENSP00000278772:R584X	R	-	1	2	2	ZNF343	2411857	2411857	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.504000	0.06375	0.035000	0.15519	0.591000	0.81541	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_024325			64	62		288	282	1		1	1		0	0	76	0		1	9.660685e-01	0	7	0	20	0	64	288
CST2	1470	broad.mit.edu	37	20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	57					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2	1.000000	0.680000	1	8.300000e-01	0.990000	0.938381	0.990000	1.000000																										0				10						c.(169-171)aAg>aGg		cystatin SA							134.0	107.0	116.0					20																	23807128		2203	4300	6503	SO:0001583	missense	1470	0	0					g.chr20:23807128T>C	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.170A>G	chr20.hg19:g.23807128T>C	ENSP00000307540:p.Lys57Arg	0						p.K57R	NM_001322.2	NP_001313.1	1	2	3	1.995265	P09228	CYTT_HUMAN		1	240	-			Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	1	1	hg19	c.170A>G	CCDS13161.1	1	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199532	0.09652	.	.	ENSG00000170369	ENST00000304725	T	0.14640	2.49	1.88	1.88	0.25563	1.88	1.88	0.25563	Proteinase inhibitor I25, cystatin (2);	0.552916	0.18943	N	0.126892	T	0.14485	0.0350	M	0.62723	1.935	0.09310	N	1	B	0.18863	0.031	B	0.30855	0.121	T	0.19745	-1.0296	10	0.31617	T	0.26	.	5.7205	0.17985	0.0:0.0:0.0:1.0	.	57	P09228	CYTT_HUMAN	R	57	ENSP00000307540:K57R	ENSP00000307540:K57R	K	-	2	0	0	CST2	23755128	23755128	0.097000	0.21791	0.004000	0.12327	0.024000	0.10985	0.474000	0.22148	0.858000	0.35431	0.248000	0.18094	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-9.355260	1	0.170000				27	27		292	291	0		1	0		0	0	51	0		1	1	0	0	0	549	0	27	292
CST7	8530	broad.mit.edu	37	20	24940294	24940294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	128					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597																																						ENST00000480798.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(382-384)gtC>gtT		cystatin F (leukocystatin)							122.0	113.0	116.0					20																	24940294		2203	4300	6503	SO:0001819	synonymous_variant	8530	0	0					g.chr20:24940294C>T	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.384C>T	chr20.hg19:g.24940294C>T		0					CST7_ENST00000376835.2_Silent_p.V150V	p.V128V	NM_003650.3	NP_003641.3	1	2	3	1.995265	O76096	CYTF_HUMAN		4	660	+			Q6FH95|Q7Z4J8|Q9UED4	Silent	SNP	ENST00000480798.1	1	1	hg19	c.384C>T	CCDS13165.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_003650			82	82		394	384	1		1	0		0	0	96	0		1	9.998961e-01	0	0	0	66	0	82	394
ACSS1	84532	broad.mit.edu	37	20	25003612	25003612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000323482.4	-	5	1003	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	308					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637																																						ENST00000323482.4	1.000000	0.750000	1	9.600000e-01	0.990000	0.976694	0.990000	1.000000																										0				26						c.(922-924)caG>caA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						74.0	56.0	62.0					20																	25003612		2203	4300	6503	SO:0001819	synonymous_variant	84532	0	0					g.chr20:25003612C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.924G>A	chr20.hg19:g.25003612C>T		0					ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	p.Q308Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	1	2	3	1.995265	Q9NUB1	ACS2L_HUMAN		5	1003	-			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	1	1	hg19	c.924G>A	CCDS13167.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-19.999990	1	0.170000	NM_032501			17	17		148	144	1		1	1		0	0	39	0		9.999678e-01	9.712996e-01	0	15	0	39	0	17	148
ENTPD6	955	broad.mit.edu	37	20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000376652.4	+	12	1275	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T370M|ENTPD6_ENST00000485936.1_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	371					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577																																						ENST00000376652.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1111-1113)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							187.0	155.0	166.0					20																	25203540		2203	4300	6503	SO:0001583	missense	955	5	121412	40				g.chr20:25203540C>T	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.1112C>T	chr20.hg19:g.25203540C>T	ENSP00000365840:p.Thr371Met	0					ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T370M	p.T371M			1	2	3	1.995265	O75354	ENTP6_HUMAN		12	1275	+			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	1	1	hg19	c.1112C>T	CCDS13170.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701382|2.701382	0.48307|0.48307	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|T;T;T;T	.|0.18338	.|2.61;2.61;2.61;2.22	5.67|5.67	1.65|1.65	0.23941|0.23941	5.67|5.67	1.65|1.65	0.23941|0.23941	.|.	.|0.362158	.|0.32357	.|N	.|0.006218	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	1|1	.|P;D;D;D;P;D;D;D	.|0.62365	.|0.889;0.991;0.985;0.991;0.889;0.973;0.991;0.991	.|B;P;P;P;P;P;P;P	.|0.60236	.|0.287;0.829;0.806;0.871;0.541;0.671;0.79;0.79	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	-6.0596|-6.0596	9.8497|9.8497	0.41048|0.41048	0.0:0.7265:0.0:0.2735|0.0:0.7265:0.0:0.2735	.|.	.|119;353;371;337;354;370;370;371	.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;ENTP6_HUMAN	W|M	292;230|354;370;291;267;371;337	.|ENSP00000347084:T354M;ENSP00000353131:T370M;ENSP00000365840:T371M;ENSP00000401895:T337M	.|ENSP00000347084:T354M	R|T	+|+	1|2	2|0	2|0	ENTPD6|ENTPD6	25151540|25151540	25151540|25151540	0.079000|0.079000	0.21365|0.21365	0.000000|0.000000	0.03702|0.03702	0.638000|0.638000	0.38207|0.38207	2.982000|2.982000	0.49337|0.49337	0.086000|0.086000	0.17137|0.17137	0.462000|0.462000	0.41574|0.41574	CGG|ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	1		2	2	2	0		0	0	139		139	136	1	2.060000	-20.000000	1	0.170000				128	126		590	577	1		1	1		0	0	139	0		1	1	0	61	0	109	0	128	590
ENTPD6	955	broad.mit.edu	37	20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000376652.4	+	14	1473	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S436I|ENTPD6_ENST00000485936.1_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	437					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607																																						ENST00000376652.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995594	0.990000	1.000000																										0				27						c.(1309-1311)aGc>aTc		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							117.0	82.0	94.0					20																	25205907		2203	4300	6503	SO:0001583	missense	955	0	0					g.chr20:25205907G>T	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.1310G>T	chr20.hg19:g.25205907G>T	ENSP00000365840:p.Ser437Ile	0					ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S436I	p.S437I			1	2	3	1.995265	O75354	ENTP6_HUMAN		14	1473	+			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	1	1	hg19	c.1310G>T	CCDS13170.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.619|6.619|6.619	0.482540|0.482540|0.482540	0.12581|0.12581|0.12581	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000376641;ENST00000433259|ENST00000354989;ENST00000360031;ENST00000376652	.|T|T;T;T	.|0.19394|0.13778	.|2.15|2.56;2.56;2.56	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|.|0.144262	.|.|0.64402	.|.|D	.|.|0.000006	T|T|T	0.10594|0.10594|0.10594	0.0259|0.0259|0.0259	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|B;B;B;B	.|0.06786|0.31026	.|0.001;0.001;0.001|0.304;0.023;0.107;0.107	.|B;B;B|B;B;B;B	.|0.06405|0.30029	.|0.001;0.002;0.002|0.11;0.056;0.104;0.104	T|T|T	0.19745|0.19745|0.19745	-1.0296|-1.0296|-1.0296	5|9|10	.|0.72032|0.66056	.|D|D	.|0.01|0.02	-25.0532|-25.0532|-25.0532	8.7005|8.7005|8.7005	0.34323|0.34323|0.34323	0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0	.|.|.	.|433;451;417|185;420;436;437	.|B4DDM7;B4DNK6;Q5QPI9|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.|.;.;.;ENTP6_HUMAN	S|H|I	296;275|347;417|420;436;437	.|ENSP00000401895:Q417H|ENSP00000347084:S420I;ENSP00000353131:S436I;ENSP00000365840:S437I	.|ENSP00000365828:Q347H|ENSP00000347084:S420I	A|Q|S	+|+|+	1|3|2	0|2|0	0|2|0	ENTPD6|ENTPD6|ENTPD6	25153907|25153907|25153907	25153907|25153907|25153907	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.073000|0.073000|0.073000	0.20177|0.20177|0.20177	0.005000|0.005000|0.005000	0.04900|0.04900|0.04900	1.662000|1.662000|1.662000	0.37418|0.37418|0.37418	1.423000|1.423000|1.423000	0.47198|0.47198|0.47198	-0.257000|-0.257000|-0.257000	0.10917|0.10917|0.10917	GCC|CAG|AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				18	18		125	122	1		1	1		0	0	35	0		9.999853e-01	1	0	75	0	184	0	18	125
ENTPD6	955	broad.mit.edu	37	20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000376652.4	+	14	1509	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000360031.2_Missense_Mutation_p.K448R|ENTPD6_ENST00000485936.1_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	449					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607																																						ENST00000376652.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999473	0.990000	1.000000																										0				27						c.(1345-1347)aAa>aGa		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							107.0	77.0	87.0					20																	25205943		2203	4300	6503	SO:0001583	missense	955	0	0					g.chr20:25205943A>G	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.1346A>G	chr20.hg19:g.25205943A>G	ENSP00000365840:p.Lys449Arg	0					ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000360031.2_Missense_Mutation_p.K448R	p.K449R			1	2	3	1.995265	O75354	ENTP6_HUMAN		14	1509	+			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	1	1	hg19	c.1346A>G	CCDS13170.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.36|13.36	2.213574|2.213574	0.39102|0.39102	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652	T|T;T;T	0.24538|0.11604	1.85|2.76;2.76;2.76	5.76|5.76	4.66|4.66	0.58398|0.58398	5.76|5.76	4.66|4.66	0.58398|0.58398	.|.	0.146358|0.146358	0.64402|0.64402	D|N	0.000014|0.000014	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29188	.|0.024;0.02;0.236;0.236	.|B;B;B;B	.|0.34590	.|0.056;0.029;0.186;0.186	T|T	0.36986|0.36986	-0.9725|-0.9725	7|10	.|0.12430	.|T	.|0.62	-13.8871|-13.8871	9.6271|9.6271	0.39757|0.39757	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|197;432;448;449	.|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.;ENTP6_HUMAN	E|R	308;287|432;448;449	ENSP00000406975:K308E|ENSP00000347084:K432R;ENSP00000353131:K448R;ENSP00000365840:K449R	.|ENSP00000347084:K432R	K|K	+|+	1|2	0|0	0|0	ENTPD6|ENTPD6	25153943|25153943	25153943|25153943	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.741000|0.741000	0.42261|0.42261	3.715000|3.715000	0.54897|0.54897	0.988000|0.988000	0.38734|0.38734	0.460000|0.460000	0.39030|0.39030	AAG|AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	0		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				22	22		129	123	1		1	1		0	0	23	0		9.999989e-01	1	0	69	0	143	0	22	129
PYGB	5834	broad.mit.edu	37	20	25255323	25255323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	208					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GACGCGTGGAGCACACCCCCG	0.637																																						ENST00000216962.4	1.000000	0.220000	4.200000e-01	2.700000e-01	0.330000	0.374709	0.330000	0.330000																										0				31						c.(622-624)gaG>gaA		phosphorylase, glycogen; brain							95.0	105.0	102.0					20																	25255323		2203	4300	6503	SO:0001819	synonymous_variant	5834	0	0					g.chr20:25255323G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.624G>A	chr20.hg19:g.25255323G>A		0						p.E208E	NM_002862.3	NP_002853.2	1	2	3	1.995265	P11216	PYGB_HUMAN		5	734	+			Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	1	1	hg19	c.624G>A	CCDS13171.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	0	0	1		2	2	2	0		0	0	148		148	141	1	2.060000	-3.011608	1	0.170000	NM_002862			27	27		929	913	0		1	1		0	0	148	0		9.999999e-01	1	0	96	0	1077	0	27	929
PYGB	5834	broad.mit.edu	37	20	25277122	25277122	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	832					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AGCCCTCCGACCTGCAGATCC	0.602																																						ENST00000216962.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2494-2496)gaC>gaT		phosphorylase, glycogen; brain							82.0	67.0	72.0					20																	25277122		2203	4300	6503	SO:0001819	synonymous_variant	5834	0	0					g.chr20:25277122C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2496C>T	chr20.hg19:g.25277122C>T		0					ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	p.D832D	NM_002862.3	NP_002853.2	1	2	3	1.995265	P11216	PYGB_HUMAN		20	2606	+			Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	1	1	hg19	c.2496C>T	CCDS13171.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_002862			63	62		328	325	1		1	1		0	0	68	0		1	1	0	920	0	1071	0	63	328
ABHD12	26090	broad.mit.edu	37	20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	266					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AGGGCATCTGGAGGCGTCTCT	0.463																																						ENST00000339157.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999526	0.990000	1.000000																										0				12						c.(796-798)Cca>Tca		abhydrolase domain containing 12							64.0	64.0	64.0					20																	25288673		2203	4300	6503	SO:0001583	missense	26090	0	0					g.chr20:25288673G>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.796C>T	chr20.hg19:g.25288673G>A	ENSP00000341408:p.Pro266Ser	0					ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	p.P266S	NM_001042472.2	NP_001035937.1	1	2	3	1.995265	Q8N2K0	ABD12_HUMAN		9	1068	-			A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	1	1	hg19	c.796C>T	CCDS42857.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714331	0.89112	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.22945	1.98;1.93	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	P;D;D	0.91635	0.646;0.999;0.988	T	0.50311	-0.8843	10	0.51188	T	0.08	-21.0005	19.2866	0.94077	0.0:0.0:1.0:0.0	.	228;266;266	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	266;266;228	ENSP00000365725:P266S;ENSP00000341408:P266S	ENSP00000341408:P266S	P	-	1	0	0	ABHD12	25236673	25236673	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.635000	0.91006	2.884000	0.98904	0.655000	0.94253	CCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.841720	1	0.170000	NM_015600			41	41		294	292	1		1	1		0	0	69	0		1	1	0	37	0	266	0	41	294
NINL	22981	broad.mit.edu	37	20	25450686	25450686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1098					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)			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						TTCCCAGATCGTTTTTCAACA	0.507											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3292-3294)aaC>aaT		ninein-like							182.0	179.0	180.0					20																	25450686		2203	4300	6503	SO:0001819	synonymous_variant	22981	0	0					g.chr20:25450686G>A		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.3294C>T	chr20.hg19:g.25450686G>A		0		OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	779	NINL_ENST00000422516.1_Silent_p.N749N	p.N1098N	NM_025176.4	NP_079452.3	1	2	3	1.995265	Q9Y2I6	NINL_HUMAN		18	3367	-			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	1	1	hg19	c.3294C>T	CCDS33452.1	1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173344	0.01646	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.66	-2.02	0.07388	4.66	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3007	1.1511	0.01786	0.3569:0.2675:0.2455:0.1301	.	.	.	.	X	51	.	.	R	-	1	2	2	NINL	25398686	25398686	0.220000	0.23631	0.000000	0.03702	0.107000	0.19398	0.042000	0.13949	-0.628000	0.05582	-0.302000	0.09304	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1		2	2	2	0		0	0	166		166	166	1	2.060000	-20.000000	1	0.170000	NM_025176			172	170		705	696	1		1	1		0	0	166	0		1	9.912380e-01	0	7	0	25	0	172	705
NINL	22981	broad.mit.edu	37	20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	851					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)			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						CCACAGCCCGGACGCAGTGGT	0.706																																						ENST00000278886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2551-2553)Ccg>Tcg		ninein-like							17.0	18.0	18.0					20																	25457376		2195	4289	6484	SO:0001583	missense	22981	0	0					g.chr20:25457376G>A		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.2551C>T	chr20.hg19:g.25457376G>A	ENSP00000278886:p.Pro851Ser	0					NINL_ENST00000422516.1_Intron	p.P851S	NM_025176.4	NP_079452.3	1	2	3	1.995265	Q9Y2I6	NINL_HUMAN		17	2624	-			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	1	1	hg19	c.2551C>T	CCDS33452.1	1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914602	0.17907	.	.	ENSG00000101004	ENST00000278886	T	0.30448	1.53	2.44	1.47	0.22746	2.44	1.47	0.22746	.	0.385935	0.21657	N	0.071096	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.16158	-1.0412	10	0.06494	T	0.89	-1.3398	6.899	0.24273	0.0:0.3611:0.6389:0.0	.	851	Q9Y2I6	NINL_HUMAN	S	851	ENSP00000278886:P851S	ENSP00000278886:P851S	P	-	1	0	0	NINL	25405376	25405376	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.438000	0.21559	0.604000	0.29930	0.561000	0.74099	CCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_025176			33	32		123	122	0		1	1		0	0	23	0		1	7.552067e-01	0	4	0	8	0	33	123
NINL	22981	broad.mit.edu	37	20	25470535	25470535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	524					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)			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						CAAACTCCAGGTCCTTCTGCA	0.597																																						ENST00000278886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1570-1572)gaC>gaT		ninein-like							169.0	153.0	159.0					20																	25470535		2203	4300	6503	SO:0001819	synonymous_variant	22981	1	121412	29				g.chr20:25470535G>A		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.1572C>T	chr20.hg19:g.25470535G>A		0					NINL_ENST00000422516.1_Silent_p.D524D	p.D524D	NM_025176.4	NP_079452.3	1	2	3	1.995265	Q9Y2I6	NINL_HUMAN		12	1645	-			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	1	1	hg19	c.1572C>T	CCDS33452.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_025176			124	124		500	484	1		1	1		0	0	103	0		1	8.778185e-01	0	2	0	15	0	124	500
TMC2	117532	broad.mit.edu	37	20	2552886	2552886	+	Silent	SNP	C	C	T	rs368277548		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	206	Arg/Asp/Glu/Lys-rich (highly charged).				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)			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						AGGCAAGCAACTATATGCCTA	0.498																																						ENST00000358864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(616-618)Cta>Tta		transmembrane channel-like 2							118.0	111.0	113.0					20																	2552886		2203	4300	6503	SO:0001819	synonymous_variant	117532	0	0					g.chr20:2552886C>T	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.616C>T	chr20.hg19:g.2552886C>T		0						p.L206L	NM_080751.2	NP_542789.2	1	2	3	1.995265	Q8TDI7	TMC2_HUMAN		5	631	+			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	1	1	hg19	c.616C>T	CCDS13029.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000				56	54		251	244	1		1			0	0	66	0		1	0	0	0	0	0	0	56	251
NINL	22981	broad.mit.edu	37	20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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						TGAAGCTTAAGGCAGAGCTGG	0.572																																						ENST00000278886.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(109-111)Ctt>Ttt		ninein-like							131.0	129.0	130.0					20																	25507115		2203	4300	6503	SO:0001583	missense	22981	0	0					g.chr20:25507115G>A		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.109C>T	chr20.hg19:g.25507115G>A	ENSP00000278886:p.Leu37Phe	0					NINL_ENST00000422516.1_Missense_Mutation_p.L37F	p.L37F	NM_025176.4	NP_079452.3	1	2	3	1.995265	Q9Y2I6	NINL_HUMAN		2	182	-			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	1	1	hg19	c.109C>T	CCDS33452.1	1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445863	0.25987	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.05	0.26809	5.11	2.05	0.26809	EF-hand-like domain (1);	1.410640	0.04275	N	0.342829	T	0.10766	0.0263	N	0.08118	0	0.22142	N	0.999338	B;B	0.16396	0.004;0.017	B;B	0.15052	0.004;0.012	T	0.29671	-1.0004	10	0.09843	T	0.71	0.1571	6.9357	0.24464	0.1545:0.0:0.7002:0.1453	.	37;37	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	37	ENSP00000278886:L37F;ENSP00000410431:L37F	ENSP00000278886:L37F	L	-	1	0	0	NINL	25455115	25455115	0.991000	0.36638	0.322000	0.25334	0.984000	0.73092	1.990000	0.40717	0.390000	0.25115	0.561000	0.74099	CTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1		2	2	2	0		0	0	147		147	144	1	2.060000	-20.000000	1	0.170000	NM_025176			145	143		704	696	1		1	1		0	0	147	0		1	5.850605e-01	0	4	0	7	0	145	704
ZNF337	26152	broad.mit.edu	37	20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	461					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(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						GTCCTTGCACACAAAAGGCTT	0.468																																						ENST00000376436.1	1.000000	0.800000	1	9.000000e-01	0.990000	0.967389	0.990000	1.000000																										0				32						c.(1381-1383)gTg>gCg		zinc finger protein 337							156.0	134.0	141.0					20																	25656542		2203	4300	6503	SO:0001583	missense	26152	2	121412	36				g.chr20:25656542A>G		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.1382T>C	chr20.hg19:g.25656542A>G	ENSP00000365619:p.Val461Ala	0					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA	p.V461A			1	2	3	1.995265	Q9Y3M9	ZN337_HUMAN		4	1921	-			B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	1	1	hg19	c.1382T>C	CCDS13174.1	1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.562285	0.45694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.1	1.1	0.20463	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31294	0.92	0.09310	N	1	P;P	0.36587	0.559;0.559	B;B	0.28305	0.088;0.088	T	0.26815	-1.0092	9	0.25751	T	0.34	.	6.387	0.21566	1.0:0.0:0.0:0.0	.	429;461	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	461;461;461;429	ENSP00000365619:V461A;ENSP00000252979:V461A;ENSP00000442181:V429A	ENSP00000252979:V461A	V	-	2	0	0	ZNF337	25604542	25604542	0.000000	0.05858	0.091000	0.20842	0.768000	0.43524	-0.747000	0.04823	0.742000	0.32697	0.248000	0.18094	GTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-17.096570	1	0.170000				67	68		708	690	0		1	1		0	0	130	0		1	8.690361e-01	0	6	0	34	0	67	708
ZNF337	26152	broad.mit.edu	37	20	25656919	25656919	+	Silent	SNP	G	G	A	rs367547255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656919G>A	ENST00000376436.1	-	4	1544	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ZNF337_ENST00000538750.1_Silent_p.F303F|ZNF337_ENST00000252979.5_Silent_p.F335F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TGTGCACAACGAAGTATGACT	0.478																																						ENST00000376436.1	1.000000	0.100000	3.000000e-01	1.400000e-01	0.210000	0.256126	0.210000	0.200000																										0				32						c.(1003-1005)ttC>ttT		zinc finger protein 337		G		0,4406		0,0,2203	85.0	78.0	81.0		1005	1.3	0.0	20		81	1,8599		0,1,4299	no	coding-synonymous	ZNF337	NM_015655.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		335/752	25656919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26152	2	121412	34				g.chr20:25656919G>A		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.1005C>T	chr20.hg19:g.25656919G>A		0					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA	p.F335F			1	2	3	1.995265	Q9Y3M9	ZN337_HUMAN		4	1544	-			B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	0	1	hg19	c.1005C>T	CCDS13174.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	0	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.122247	1	0.170000				9	8		523	513	0		1	0		0	0	109	0		9.937189e-01	1.558675e-01	0	1	0	36	0	9	523
C20orf96	140680	broad.mit.edu	37	20	259966	259966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	104										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCTCCTGAGCGAGGTCTGCG	0.706																																						ENST00000360321.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(310-312)tcG>tcA		chromosome 20 open reading frame 96							59.0	46.0	50.0					20																	259966		2203	4300	6503	SO:0001819	synonymous_variant	140680	0	0					g.chr20:259966C>T	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.312G>A	chr20.hg19:g.259966C>T		0					C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	p.S104S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	1	2	3	1.995265	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)	5	450	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	1	1	hg19	c.312G>A	CCDS12994.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_153269			45	45		205	199	0		1	1		0	0	46	0		1	9.632712e-01	0	10	0	17	0	45	205
C20orf96	140680	broad.mit.edu	37	20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	82										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTATGTAGTTCTCTTGGATTC	0.537																																						ENST00000360321.2	1.000000	0.260000	6.300000e-01	3.500000e-01	0.470000	0.503164	0.470000	0.440000																										0				12						c.(244-246)Gaa>Taa		chromosome 20 open reading frame 96							207.0	170.0	182.0					20																	264666		2203	4300	6503	SO:0001587	stop_gained	140680	0	0					g.chr20:264666C>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.244G>T	chr20.hg19:g.264666C>A	ENSP00000353470:p.Glu82*	0					C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	p.E82*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	1	2	3	1.995265	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)	4	382	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Nonsense_Mutation	SNP	ENST00000360321.2	0	1	hg19	c.244G>T	CCDS12994.1	0	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217647	0.58560	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	.	.	.	3.54	3.54	0.40534	3.54	3.54	0.40534	.	0.677352	0.12134	N	0.496481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.2996	10.8705	0.46881	0.0:1.0:0.0:0.0	.	.	.	.	X	47;82;24	.	ENSP00000353470:E82X	E	-	1	0	0	C20orf96	212666	212666	0.001000	0.12720	0.010000	0.14722	0.098000	0.18820	0.856000	0.27818	2.282000	0.76494	0.561000	0.74099	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.318794	1	0.170000	NM_153269			13	12		326	316	0		1	0		0	0	61	0		9.994507e-01	5.064640e-01	0	1	0	41	0	13	326
ZCCHC3	85364	broad.mit.edu	37	20	279106	279106	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	293							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647																																						ENST00000382352.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(877-879)atC>atA		zinc finger, CCHC domain containing 3							62.0	68.0	66.0					20																	279106		2062	4199	6261	SO:0001819	synonymous_variant	85364	0	0					g.chr20:279106C>A	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.879C>A	chr20.hg19:g.279106C>A		0						p.I293I	NM_033089.6	NP_149080	1	2	3	1.995265	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)	1	1370	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	1	1	hg19	c.879C>A	CCDS42844.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000				101	96		481	474	1		1	1		0	0	92	0		1	9.999997e-01	0	24	0	79	0	101	481
TMC2	117532	broad.mit.edu	37	20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	669					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)			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						GACCTCCATGTACTTCCAGTG	0.567																																						ENST00000358864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2005-2007)Tac>Cac		transmembrane channel-like 2							155.0	117.0	130.0					20																	2597782		2203	4300	6503	SO:0001583	missense	117532	0	0					g.chr20:2597782T>C	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.2005T>C	chr20.hg19:g.2597782T>C	ENSP00000351732:p.Tyr669His	0					TMC2_ENST00000496948.1_3'UTR	p.Y669H	NM_080751.2	NP_542789.2	1	2	3	1.995265	Q8TDI7	TMC2_HUMAN		16	2020	+			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	1	1	hg19	c.2005T>C	CCDS13029.2	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606491	0.87157	.	.	ENSG00000149488	ENST00000358864	T	0.79749	-1.3	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.113958	0.64402	D	0.000008	D	0.89787	0.6816	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91210	0.4998	10	0.87932	D	0	-7.3629	13.5825	0.61911	0.0:0.0:0.0:1.0	.	669	Q8TDI7	TMC2_HUMAN	H	669	ENSP00000351732:Y669H	ENSP00000351732:Y669H	Y	+	1	0	0	TMC2	2545782	2545782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.145000	0.66743	0.528000	0.53228	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				72	69		297	286	1		1			0	0	76	0		1	0	0	0	0	0	0	72	297
TMC2	117532	broad.mit.edu	37	20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	748					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)			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						CCCAACCTTCCTGGGCAAGAT	0.498																																						ENST00000358864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2242-2244)Ctg>Atg		transmembrane channel-like 2							188.0	139.0	156.0					20																	2604978		2203	4300	6503	SO:0001583	missense	117532	0	0					g.chr20:2604978C>A	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.2242C>A	chr20.hg19:g.2604978C>A	ENSP00000351732:p.Leu748Met	0						p.L748M	NM_080751.2	NP_542789.2	1	2	3	1.995265	Q8TDI7	TMC2_HUMAN		17	2257	+			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	1	1	hg19	c.2242C>A	CCDS13029.2	1	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859717	0.17178	.	.	ENSG00000149488	ENST00000358864	T	0.68025	-0.3	4.89	2.83	0.33086	4.89	2.83	0.33086	.	0.337351	0.29987	N	0.010687	T	0.52125	0.1715	L	0.39147	1.195	0.26840	N	0.968397	B	0.19200	0.034	B	0.19946	0.027	T	0.35724	-0.9777	10	0.33940	T	0.23	-10.3691	7.3929	0.26919	0.1661:0.5411:0.2928:0.0	.	748	Q8TDI7	TMC2_HUMAN	M	748	ENSP00000351732:L748M	ENSP00000351732:L748M	L	+	1	2	2	TMC2	2552978	2552978	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.378000	0.20569	2.429000	0.82318	0.557000	0.71058	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.674190	1	0.170000				103	103		373	365	1		1			0	0	89	0		1	0	0	0	0	0	0	103	373
NOP56	10528	broad.mit.edu	37	20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D	MIR1292_ENST00000408135.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					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)			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						AACTGAATGAGGACAAGCTGG	0.542																																						ENST00000329276.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(673-675)gaG>gaT		NOP56 ribonucleoprotein							127.0	122.0	124.0					20																	2636076		2203	4300	6503	SO:0001583	missense	10528	0	0					g.chr20:2636076G>T	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.675G>T	chr20.hg19:g.2636076G>T	ENSP00000370589:p.Glu225Asp	0					SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	p.E225D	NM_006392.3	NP_006383.2	1	2	3	1.995265	O00567	NOP56_HUMAN		6	1191	+			Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	1	1	hg19	c.675G>T	CCDS13030.1	1	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674327	0.14841	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.76578	-1.03;0.88	5.69	-3.39	0.04868	5.69	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.11651	0.15	0.54753	D	0.999985	B	0.17465	0.022	B	0.14578	0.011	T	0.25222	-1.0138	10	0.16420	T	0.52	-23.0047	14.4351	0.67274	0.2564:0.0:0.7436:0.0	.	225	O00567	NOP56_HUMAN	D	225;254	ENSP00000370589:E225D;ENSP00000388497:E254D	ENSP00000370589:E225D	E	+	3	2	2	NOP56	2584076	2584076	1.000000	0.71417	0.770000	0.31555	0.980000	0.70556	1.873000	0.39558	-0.531000	0.06340	0.561000	0.74099	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.481822	1	0.170000	NM_006392			79	77		323	312	1		1	1		0	0	86	0		1	1	0	84	0	265	0	79	323
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I	MIR1292_ENST00000408135.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264					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.I264I(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						TGATAAACATCGAGAGCTTCT	0.498																																						ENST00000329276.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I264I(1)	large_intestine(1)	25						c.(790-792)atC>atT		NOP56 ribonucleoprotein		C		4,4402	8.1+/-20.4	0,4,2199	157.0	151.0	153.0		792	-0.6	1.0	20	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	NOP56	NM_006392.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		264/595	2636275	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10528	14	121412	44				g.chr20:2636275C>T	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.792C>T	chr20.hg19:g.2636275C>T		0					SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	p.I264I	NM_006392.3	NP_006383.2	1	2	3	1.995265	O00567	NOP56_HUMAN		7	1308	+			Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	1	1	hg19	c.792C>T	CCDS13030.1	1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	0	NOP56	2584275	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.378596	1	0.170000	NM_006392			113	112		479	470	1		1	1		0	0	113	0		1	1	0	57	0	199	0	113	479
NOP56	10528	broad.mit.edu	37	20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	323	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				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)			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						AAGTATCCAGCATCCACAGTG	0.557																																						ENST00000329276.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				25						c.(967-969)gCa>gTa		NOP56 ribonucleoprotein							81.0	65.0	70.0					20																	2636638		2203	4300	6503	SO:0001583	missense	10528	0	0					g.chr20:2636638C>T	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.968C>T	chr20.hg19:g.2636638C>T	ENSP00000370589:p.Ala323Val	0					SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA|NOP56_ENST00000492135.1_3'UTR	p.A323V	NM_006392.3	NP_006383.2	1	2	3	1.995265	O00567	NOP56_HUMAN		8	1484	+			Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	1	1	hg19	c.968C>T	CCDS13030.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569305|4.569305	0.86439|0.86439	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.81579|.	-1.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.097174|.	0.64402|.	D|.	0.000001|.	D|D	0.91637|0.91637	0.7357|0.7357	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.94971|0.94971	0.8117|0.8117	10|5	0.87932|.	D|.	0|.	-12.1857|-12.1857	14.7342|14.7342	0.69404|0.69404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;323|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|Y	323;70|64	ENSP00000370589:A323V|.	ENSP00000370589:A323V|.	A|H	+|+	2|1	0|0	0|0	NOP56|NOP56	2584638|2584638	2584638|2584638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCA|CAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006392			37	36		197	194	1		1	1		0	0	60	0		1	1	0	100	0	212	0	37	197
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612																																						ENST00000380605.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1039-1041)Gag>Aag		carboxypeptidase X (M14 family), member 1							168.0	161.0	163.0					20																	2777179		2203	4300	6503	SO:0001583	missense	56265	0	0					g.chr20:2777179C>T	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.1039G>A	chr20.hg19:g.2777179C>T	ENSP00000369979:p.Glu347Lys	0						p.E347K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	1	2	3	1.995265	Q96SM3	CPXM1_HUMAN		8	1103	-			Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	1	1	hg19	c.1039G>A	CCDS13033.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	0	CPXM1	2725179	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000	NM_019609			109	106		498	480	1		1	0		0	0	151	0		1	9.986961e-01	0	0	0	47	0	109	498
ZNF337	26152	broad.mit.edu	37	20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	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)			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						GTTCTCTCATGCACAGTGAGG	0.502																																						ENST00000376436.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(844-846)Cat>Tat		zinc finger protein 337							180.0	168.0	172.0					20																	25657080		2203	4300	6503	SO:0001583	missense	26152	0	0					g.chr20:25657080G>A		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.844C>T	chr20.hg19:g.25657080G>A	ENSP00000365619:p.His282Tyr	0					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA	p.H282Y			1	2	3	1.995265	Q9Y3M9	ZN337_HUMAN		4	1383	-			B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	1	1	hg19	c.844C>T	CCDS13174.1	1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244414	0.79912	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	D;D;D	0.86769	-2.17;-2.17;-2.17	1.15	1.15	0.20763	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94892	0.8349	H	0.97983	4.12	0.30488	N	0.77168	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.941	D	0.89548	0.3797	9	0.87932	D	0	.	8.2365	0.31629	0.0:0.0:1.0:0.0	.	250;282	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Y	282;282;282;250	ENSP00000365619:H282Y;ENSP00000252979:H282Y;ENSP00000442181:H250Y	ENSP00000252979:H282Y	H	-	1	0	0	ZNF337	25605080	25605080	0.998000	0.40836	0.046000	0.18839	0.954000	0.61252	3.871000	0.56077	0.935000	0.37341	0.306000	0.20318	CAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	1	0	1		2	2	2	0		0	0	177		177	176	1	2.060000	-20.000000	1	0.170000				154	151		715	707	1		1	1		0	0	177	0		1	9.495017e-01	0	6	0	19	0	154	715
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	DEFB119_ENST00000339144.3_Silent_p.T36T|SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433																																						ENST00000376321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T36T(1)	large_intestine(1)	4						c.(67-69)cGc>cAc		defensin, beta 119							135.0	127.0	130.0					20																	29965236		2203	4300	6503	SO:0001583	missense	245932	5	121412	38				g.chr20:29965236C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.68G>A	chr20.hg19:g.29965236C>T	ENSP00000365499:p.Arg23His	0					SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Silent_p.T36T	p.R23H	NM_153289.3	NP_695021.2	1	2	3	1.995265	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)	2	187	-	all_hematologic(12;0.158)		Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	1	1	hg19	c.68G>A	CCDS13178.1	1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	0	DEFB119	29428897	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	1	0	1		15	2	2	1		1	1	107		107	105	1	2.060000	-3.161695	1	0.170000	NM_153289			84	82		377	364	1		1			1	0	107	0		1	0	0	0	0	0	0	84	377
REM1	28954	broad.mit.edu	37	20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	30					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			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)			GGGCCACCAGCCTGGCCGCCT	0.657																																						ENST00000201979.2	1.000000	0.750000	1	8.600000e-01	0.990000	0.948270	0.990000	1.000000																										0				23						c.(88-90)Cct>Act		RAS (RAD and GEM)-like GTP-binding 1							76.0	88.0	84.0					20																	30064336		2203	4300	6503	SO:0001583	missense	28954	0	0					g.chr20:30064336C>A	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.88C>A	chr20.hg19:g.30064336C>A	ENSP00000201979:p.Pro30Thr	0					DEFB124_ENST00000481595.1_Intron	p.P30T	NM_014012.4	NP_054731.2	1	2	3	1.995265	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)	2	381	+	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)		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	1	1	hg19	c.88C>A	CCDS13181.1	1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027703	0.54790	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.55	3.59	0.41128	4.55	3.59	0.41128	.	0.410133	0.19588	N	0.110692	T	0.43366	0.1244	N	0.19112	0.55	0.26069	N	0.981242	B	0.33964	0.434	B	0.28011	0.085	T	0.47045	-0.9147	10	0.66056	D	0.02	.	10.6959	0.45899	0.0:0.9038:0.0:0.0962	.	30	O75628	REM1_HUMAN	T	30	ENSP00000201979:P30T	ENSP00000201979:P30T	P	+	1	0	0	REM1	29527997	29527997	0.890000	0.30428	1.000000	0.80357	0.852000	0.48524	2.140000	0.42159	2.350000	0.79820	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-20.000000	1	0.170000	NM_014012			51	51		559	547	0		1	0		0	0	103	0		1	3.674972e-01	0	0	0	15	0	51	559
COX4I2	84701	broad.mit.edu	37	20	30227779	30227779	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	42					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)			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)			ACTGCTATGCCCAGCGCTACT	0.597																																						ENST00000376075.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				11						c.(124-126)gcC>gcA		cytochrome c oxidase subunit IV isoform 2 (lung)							78.0	67.0	71.0					20																	30227779		2203	4300	6503	SO:0001819	synonymous_variant	84701	0	0					g.chr20:30227779C>A	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.126C>A	chr20.hg19:g.30227779C>A		0					COX4I2_ENST00000490030.1_3'UTR	p.A42A	NM_032609.2	NP_115998.2	1	2	3	1.995265	Q96KJ9	COX42_HUMAN	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)	3	201	+	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)		Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	1	1	hg19	c.126C>A	CCDS13187.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.144014	1	0.170000	NM_032609			38	36		242	239	1		1	0		0	0	80	0		1	1.975932e-01	0	0	0	6	0	38	242
GNRH2	2797	broad.mit.edu	37	20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000245983.2	+	3	340	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000380347.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	97					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637																																						ENST00000245983.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999697	0.990000	1.000000																										0				2						c.(289-291)Cga>Tga		gonadotropin-releasing hormone 2							34.0	32.0	33.0					20																	3025459		2203	4300	6503	SO:0001587	stop_gained	2797	2	121360	31				g.chr20:3025459C>T	AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.289C>T	chr20.hg19:g.3025459C>T	ENSP00000245983:p.Arg97*	0					GNRH2_ENST00000380347.2_Nonsense_Mutation_p.R90*|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*	p.R97*	NM_001501.1	NP_001492.1	1	2	3	1.995265	O43555	GON2_HUMAN		3	340	+			Q14C68|Q14C69|Q9BYN9|Q9BYP0	Nonsense_Mutation	SNP	ENST00000245983.2	0	1	hg19	c.289C>T	CCDS13040.1	1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733969	0.48939	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	.	.	.	4.44	2.47	0.30058	4.44	2.47	0.30058	.	0.836298	0.09727	N	0.763668	.	.	.	.	.	.	0.38892	D	0.957146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2486	0.26135	0.0:0.7859:0.0:0.2141	.	.	.	.	X	97;90;89;90;89	.	ENSP00000245983:R97X	R	+	1	2	2	GNRH2	2973459	2973459	0.998000	0.40836	0.047000	0.18901	0.031000	0.12232	2.886000	0.48578	0.571000	0.29365	0.655000	0.94253	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077694.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_001501			20	20		105	103	1		1			0	0	22	0		9.999969e-01	0	0	0	0	0	0	20	105
COX4I2	84701	broad.mit.edu	37	20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	143					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)			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)			AAAGCCCAGCAGCTGCAGCGC	0.572																																						ENST00000376075.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				11						c.(427-429)cAg>cCg		cytochrome c oxidase subunit IV isoform 2 (lung)							88.0	73.0	78.0					20																	30232619		2203	4300	6503	SO:0001583	missense	84701	0	0					g.chr20:30232619A>C	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.428A>C	chr20.hg19:g.30232619A>C	ENSP00000365243:p.Gln143Pro	0					COX4I2_ENST00000490030.1_3'UTR	p.Q143P	NM_032609.2	NP_115998.2	1	2	3	1.995265	Q96KJ9	COX42_HUMAN	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)	5	503	+	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)		Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	1	1	hg19	c.428A>C	CCDS13187.1	1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170242	0.57584	.	.	ENSG00000131055	ENST00000376075	T	0.58358	0.34	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.87971	2.92	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77186	-0.2680	10	0.72032	D	0.01	-13.3586	9.8851	0.41257	1.0:0.0:0.0:0.0	.	143	Q96KJ9	COX42_HUMAN	P	143	ENSP00000365243:Q143P	ENSP00000365243:Q143P	Q	+	2	0	0	COX4I2	29696280	29696280	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.631000	0.83237	1.840000	0.53500	0.260000	0.18958	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_032609			36	35		194	190	1		1	0		0	0	54	0		1	2.469919e-01	0	0	0	6	0	36	194
TPX2	22974	broad.mit.edu	37	20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000300403.6	+	12	1813	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TPX2_ENST00000340513.4_Missense_Mutation_p.E465K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	429					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)			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)			ACCACCCACCGAGCCTATTGG	0.428																																						ENST00000300403.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1285-1287)Gag>Aag		TPX2, microtubule-associated							90.0	95.0	93.0					20																	30371596		2203	4300	6503	SO:0001583	missense	22974	1	121412	33				g.chr20:30371596G>A	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.1285G>A	chr20.hg19:g.30371596G>A	ENSP00000300403:p.Glu429Lys	0					TPX2_ENST00000340513.4_Missense_Mutation_p.E465K	p.E429K	NM_012112.4	NP_036244.2	1	2	3	1.995265	Q9ULW0	TPX2_HUMAN	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)	12	1813	+			Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	1	1	hg19	c.1285G>A	CCDS13190.1	1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385248	0.25031	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	5.7	4.75	0.60458	5.7	4.75	0.60458	.	0.298342	0.34067	N	0.004294	T	0.07369	0.0186	N	0.00392	-1.555	0.23972	N	0.996307	B;B	0.16802	0.019;0.002	B;B	0.09377	0.004;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-9.9915	10.8839	0.46955	0.1439:0.7129:0.1432:0.0	.	465;429	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	429;465	ENSP00000341145:E465K	ENSP00000300403:E429K	E	+	1	0	0	TPX2	29835257	29835257	0.371000	0.25056	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.406000	0.46857	-0.153000	0.13522	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-3.586401	1	0.170000				108	105		406	397	1		1	1		0	0	113	0		1	9.999985e-01	0	24	0	50	0	108	406
TPX2	22974	broad.mit.edu	37	20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000300403.6	+	18	2714	c.2186G>A	c.(2185-2187)aGt>aAt	p.S729N	TPX2_ENST00000340513.4_Missense_Mutation_p.S765N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	729					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)			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)			ATAAAGTCAAGTGACCAGCCT	0.502																																						ENST00000300403.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2185-2187)aGt>aAt		TPX2, microtubule-associated							182.0	155.0	164.0					20																	30388825		2203	4300	6503	SO:0001583	missense	22974	0	0					g.chr20:30388825G>A	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.2186G>A	chr20.hg19:g.30388825G>A	ENSP00000300403:p.Ser729Asn	0					TPX2_ENST00000340513.4_Missense_Mutation_p.S765N	p.S729N	NM_012112.4	NP_036244.2	1	2	3	1.995265	Q9ULW0	TPX2_HUMAN	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)	18	2714	+			Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	1	1	hg19	c.2186G>A	CCDS13190.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020733	0.93462	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.53423	0.62	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.73773	-0.3877	10	0.72032	D	0.01	-4.5283	18.891	0.92403	0.0:0.0:1.0:0.0	.	765;729	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	729;765	ENSP00000341145:S765N	ENSP00000300403:S729N	S	+	2	0	0	TPX2	29852486	29852486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	AGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2	0	0	1		2	2	2	0		0	0	182		182	180	1	2.060000	-20.000000	1	0.170000				133	132		657	637	1		1	1		0	0	182	0		1	9.999692e-01	0	33	0	41	0	133	657
MYLK2	85366	broad.mit.edu	37	20	30411332	30411332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	275					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAGCTGAGGACCGGGAATG	0.622											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375994.2	1.000000	0.320000	5.600000e-01	3.800000e-01	0.460000	0.491919	0.460000	0.460000																										0				33						c.(823-825)agG>agA		myosin light chain kinase 2							97.0	102.0	100.0					20																	30411332		2203	4300	6503	SO:0001819	synonymous_variant	85366	0	0					g.chr20:30411332G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.825G>A	chr20.hg19:g.30411332G>A		0		OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	817	MYLK2_ENST00000375985.4_Silent_p.R275R	p.R275R			1	2	3	1.995265	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	4	1098	+			Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	1	1	hg19	c.825G>A	CCDS13191.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	0	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-4.259932	1	0.170000	NM_033118			35	35		870	860	0		1	0		0	0	157	0		1	4.706673e-03	0	0	0	3	0	35	870
MYLK2	85366	broad.mit.edu	37	20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622																																						ENST00000375994.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1288-1290)Gca>Tca		myosin light chain kinase 2							116.0	113.0	114.0					20																	30418685		2203	4300	6503	SO:0001583	missense	85366	1	121412	29				g.chr20:30418685G>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1288G>T	chr20.hg19:g.30418685G>T	ENSP00000365162:p.Ala430Ser	0					MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR	p.A430S			1	2	3	1.995265	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	8	1561	+			Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	1	1	hg19	c.1288G>T	CCDS13191.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367341	0.82463	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.72167	-0.63;-0.63	3.76	3.76	0.43208	3.76	3.76	0.43208	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	0.73210	0.3558	L	0.31065	0.9	0.58432	D	0.999995	P	0.46327	0.876	P	0.58970	0.849	T	0.75235	-0.3389	9	0.49607	T	0.09	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	S	430	ENSP00000365162:A430S;ENSP00000365152:A430S	ENSP00000365152:A430S	A	+	1	0	0	MYLK2	29882346	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	1	0	0		2	2	2	0		0	0	169		169	168	1	2.060000	-20.000000	1	0.170000	NM_033118			159	155		753	741	1		1	0		0	0	169	0		1	2.832427e-01	0	0	0	6	0	159	753
MYLK2	85366	broad.mit.edu	37	20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	522	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAACCTCATCGTCAAGGACCA	0.527																																						ENST00000375994.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1564-1566)Gtc>Atc		myosin light chain kinase 2							105.0	93.0	97.0					20																	30419645		2203	4300	6503	SO:0001583	missense	85366	2	121412	34				g.chr20:30419645G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1564G>A	chr20.hg19:g.30419645G>A	ENSP00000365162:p.Val522Ile	0					MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR	p.V522I			1	2	3	1.995265	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	10	1837	+			Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	1	1	hg19	c.1564G>A	CCDS13191.1	1	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127489	0.20959	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.65178	-0.14;-0.14	4.88	1.79	0.24919	4.88	1.79	0.24919	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	0.51312	0.1667	L	0.56340	1.77	0.23174	N	0.998171	B	0.21606	0.058	B	0.21917	0.037	T	0.36625	-0.9740	9	0.16896	T	0.51	.	6.9167	0.24363	0.4535:0.0:0.5465:0.0	.	522	Q9H1R3	MYLK2_HUMAN	I	522	ENSP00000365162:V522I;ENSP00000365152:V522I	ENSP00000365152:V522I	V	+	1	0	0	MYLK2	29883306	29883306	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.655000	0.37345	0.653000	0.30826	0.643000	0.83706	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_033118			70	66		310	303	1		1	0		0	0	100	0		1	2.347165e-01	0	0	0	5	0	70	310
DUSP15	128853	broad.mit.edu	37	20	30436230	30436230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	ENST00000278979.3	-	10	941	c.865G>A	c.(865-867)Gct>Act	p.A289T	FOXS1_ENST00000375978.3_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	289					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGAGGAAGCGGCTCGCTTA	0.622																																						ENST00000278979.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999786	0.990000	1.000000																										0				7						c.(865-867)Gct>Act		dual specificity phosphatase 15							46.0	45.0	46.0					20																	30436230		876	1991	2867	SO:0001583	missense	128853	3	116794	32				g.chr20:30436230C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.865G>A	chr20.hg19:g.30436230C>T	ENSP00000278979:p.Ala289Thr	0					FOXS1_ENST00000375978.3_5'Flank	p.A289T			1	2	3	1.995265	Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	10	941	-			A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	1	1	hg19	c.865G>A		1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449474	0.12223	.	.	ENSG00000149599	ENST00000278979	T	0.05447	3.44	3.47	-3.16	0.05217	3.47	-3.16	0.05217	.	1304.840000	0.00447	N	0.000094	T	0.05410	0.0143	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42207	-0.9465	9	0.87932	D	0	.	4.7351	0.12984	0.1503:0.5149:0.0:0.3348	.	289	Q9H1R2	DUS15_HUMAN	T	289	ENSP00000278979:A289T	ENSP00000278979:A289T	A	-	1	0	0	DUSP15	29899891	29899891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.937000	0.00330	-0.779000	0.04560	-1.327000	0.01280	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	0	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-3.147018	1	0.170000	NM_080611			31	30		193	185	1		1			0	0	43	0		1	0	0	0	0	0	0	31	193
DUSP15	128853	broad.mit.edu	37	20	30452778	30452778	+	Missense_Mutation	SNP	C	C	T	rs148170076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30452778C>T	ENST00000278979.3	-	4	233	c.157G>A	c.(157-159)Gct>Act	p.A53T	DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	53					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGTATCAGCGACCGGGATG	0.582																																						ENST00000278979.3	1.000000	0.100000	3.600000e-01	1.600000e-01	0.240000	0.284958	0.240000	0.220000																										0				7						c.(157-159)Gct>Act		dual specificity phosphatase 15		C	,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	150.0	133.0	138.0		,166,	3.6	1.0	20	dbSNP_134	138	0,8600		0,0,4300	no	utr-5,missense,utr-5	DUSP15	NM_001012644.1,NM_080611.3,NM_177991.1	,58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign,	,56/236,	30452778	1,13005	2203	4300	6503	SO:0001583	missense	128853	1	121412	37				g.chr20:30452778C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.157G>A	chr20.hg19:g.30452778C>T	ENSP00000278979:p.Ala53Thr	0					DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR	p.A53T			1	2	3	1.995265	Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	4	233	-			A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	0	1	hg19	c.157G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114975	0.56505	2.27E-4	0.0	ENSG00000149599	ENST00000278979;ENST00000339738;ENST00000375966	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	3.59	0.41128	5.63	3.59	0.41128	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.314349	0.34362	N	0.004033	T	0.77308	0.4111	L	0.42487	1.325	0.80722	D	1	B;P	0.44044	0.152;0.825	B;B	0.41332	0.038;0.354	T	0.72283	-0.4339	10	0.25751	T	0.34	.	7.4858	0.27432	0.1531:0.5807:0.2663:0.0	.	56;53	Q9H1R2-3;Q9H1R2	.;DUS15_HUMAN	T	53;56;53	ENSP00000278979:A53T;ENSP00000341658:A56T;ENSP00000365133:A53T	ENSP00000278979:A53T	A	-	1	0	0	DUSP15	29916439	29916439	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.626000	0.37039	1.304000	0.44892	0.561000	0.74099	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-2.807526	1	0.170000	NM_080611			7	7		365	353	0		1	0		0	0	80	0		9.784607e-01	1.292603e-02	0	0	0	8	0	7	365
TTLL9	164395	broad.mit.edu	37	20	30486338	30486338	+	Missense_Mutation	SNP	G	G	A	rs147502895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30486338G>A	ENST00000375938.4	+	4	429	c.176G>A	c.(175-177)cGc>cAc	p.R59H	TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	59	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)			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)			GACGTCCTTCGCCACAGGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21241	0.0		0.001	False		,,,				2504	0.0					ENST00000375938.4	1.000000	0.190000	5.600000e-01	2.800000e-01	0.390000	0.435770	0.390000	0.370000																										0				26						c.(175-177)cGc>cAc		tubulin tyrosine ligase-like family, member 9		G	HIS/ARG	0,4096		0,0,2048	92.0	95.0	94.0		176	3.5	1.0	20	dbSNP_134	94	1,8391		0,1,4195	yes	missense	TTLL9	NM_001008409.2	29	0,1,6243	AA,AG,GG		0.0119,0.0,0.0080	benign	59/440	30486338	1,12487	2048	4196	6244	SO:0001583	missense	164395	6	120980	38				g.chr20:30486338G>A	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.176G>A	chr20.hg19:g.30486338G>A	ENSP00000365105:p.Arg59His	0					TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|RNU1-94P_ENST00000362627.1_RNA	p.R59H			1	2	3	1.995265	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)	4	429	+			A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	0	1	hg19	c.176G>A	CCDS42863.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.96	2.392147	0.42410	0.0	1.19E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.10960	3.76;3.76;3.73;3.08;2.82;3.83	5.48	3.52	0.40303	5.48	3.52	0.40303	.	0.271361	0.38548	N	0.001659	T	0.10465	0.0256	L	0.50919	1.6	0.35471	D	0.797353	B	0.11235	0.004	B	0.08055	0.003	T	0.06991	-1.0796	10	0.52906	T	0.07	.	7.8315	0.29344	0.1862:0.0:0.8138:0.0	.	59	Q3SXZ7	TTLL9_HUMAN	H	59;59;9;9;41;41;9	ENSP00000365105:R59H;ENSP00000442515:R59H;ENSP00000308980:R9H;ENSP00000365086:R9H;ENSP00000365100:R41H;ENSP00000365088:R9H	ENSP00000308980:R9H	R	+	2	0	0	TTLL9	29949999	29949999	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.154000	0.42291	1.312000	0.45043	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.679485	1	0.170000	NM_001008409			9	10		274	267	0		1	0		0	0	73	0		9.938466e-01	1.349528e-03	0	0	0	2	0	9	274
TM9SF4	9777	broad.mit.edu	37	20	30747903	30747903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000398022.2	+	16	1913	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF4_ENST00000217315.5_Silent_p.L543L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral component of membrane (GO:0016021)				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)			GTACTTCCAGCTGTGTGCAGA	0.537																																						ENST00000398022.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1678-1680)Ctg>Ttg		transmembrane 9 superfamily protein member 4							198.0	150.0	166.0					20																	30747903		2203	4300	6503	SO:0001819	synonymous_variant	9777	0	0					g.chr20:30747903C>T	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.1678C>T	chr20.hg19:g.30747903C>T		0					TM9SF4_ENST00000217315.5_Silent_p.L543L	p.L560L	NM_014742.3	NP_055557.2	1	2	3	1.995265	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)	16	1913	+			B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	1	1	hg19	c.1678C>T	CCDS13196.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_014742			63	61		244	237	0		1	1		0	0	52	0		1	1	0	55	0	181	0	63	244
ASXL1	171023	broad.mit.edu	37	20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	521	Interaction with NCOA1. {ECO:0000250}.				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)			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						GGAACCCAAGGATCAGAAGAG	0.522			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		20	20q11.1	20q11.1	171023	F, N, Mis	additional sex combs like 1				L	L			MDS, CMML		0				722						c.(1561-1563)Gat>Aat		additional sex combs like transcriptional regulator 1							131.0	142.0	139.0					20																	31021562		2203	4300	6503	SO:0001583	missense	171023	0	0					g.chr20:31021562G>A	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.1561G>A	chr20.hg19:g.31021562G>A	ENSP00000364839:p.Asp521Asn	0					ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	p.D521N	NM_015338.5	NP_056153	1	2	3	1.995265	Q8IXJ9	ASXL1_HUMAN		12	1985	+			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	1	1	hg19	c.1561G>A	CCDS13201.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871943	0.91587	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.216198	0.47455	D	0.000236	T	0.62245	0.2412	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.76494	0.999;0.988	D;P	0.66084	0.941;0.871	T	0.60840	-0.7183	10	0.42905	T	0.14	-6.3966	18.6696	0.91506	0.0:0.0:1.0:0.0	.	516;521	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	521;521;521;460;516	ENSP00000364839:D521N;ENSP00000305119:D516N	ENSP00000305119:D516N	D	+	1	0	0	ASXL1	30485223	30485223	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.113000	0.94321	2.723000	0.93209	0.655000	0.94253	GAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	1	0	1		2	2	2	0		0	0	224		224	222	1	2.060000	-20.000000	1	0.170000	NM_015338			214	207		950	937	1		1	1		0	0	224	0		1	9.999616e-01	0	15	0	50	0	214	950
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					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)			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						AATGTTACAGGCCAAGGGAAG	0.557			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		20	20q11.1	20q11.1	171023	F, N, Mis	additional sex combs like 1				L	L			MDS, CMML		0				722						c.(3895-3897)gGc>gAc		additional sex combs like transcriptional regulator 1							67.0	66.0	66.0					20																	31024411		2203	4300	6503	SO:0001583	missense	171023	0	0					g.chr20:31024411G>A	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.3896G>A	chr20.hg19:g.31024411G>A	ENSP00000364839:p.Gly1299Asp	0					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	p.G1299D	NM_015338.5	NP_056153	1	2	3	1.995265	Q8IXJ9	ASXL1_HUMAN		13	4320	+			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	1	1	hg19	c.3896G>A	CCDS13201.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	0	ASXL1	30488072	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_015338			66	64		329	318	1		1	1		0	0	54	0		1	9.999982e-01	0	23	0	75	0	66	329
DNMT3B	1789	broad.mit.edu	37	20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	352					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)			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						AAACCCAACAACACGCAACCA	0.637																																						ENST00000328111.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1054-1056)aAc>aCc		DNA (cytosine-5-)-methyltransferase 3 beta							60.0	59.0	59.0					20																	31380565		2203	4300	6503	SO:0001583	missense	1789	0	0					g.chr20:31380565A>C		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.1055A>C	chr20.hg19:g.31380565A>C	ENSP00000328547:p.Asn352Thr	0					DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T	p.N352T	NM_006892.3	NP_008823.1	1	2	3	1.995265	Q9UBC3	DNM3B_HUMAN		9	1376	+			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	1	1	hg19	c.1055A>C	CCDS13205.1	1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855864	0.32791	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.97161	-4.07;-4.27;-4.21;-4.19;-4.2;-4.09;-4.27	5.34	0.169	0.15017	5.34	0.169	0.15017	.	0.310727	0.40144	N	0.001169	D	0.90800	0.7111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.0;0.001;0.041;0.001;0.002;0.001;0.002	B;B;B;B;B;B;B	0.17098	0.001;0.004;0.017;0.006;0.009;0.006;0.003	T	0.80783	-0.1228	10	0.39692	T	0.17	-22.1898	4.1248	0.10123	0.528:0.1768:0.2952:0.0	.	276;310;51;364;352;352;352	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	352;438;352;352;310;276;352;364	ENSP00000328547:N352T;ENSP00000313397:N352T;ENSP00000337764:N352T;ENSP00000403169:N310T;ENSP00000412305:N276T;ENSP00000345105:N352T;ENSP00000201963:N364T	ENSP00000201963:N364T	N	+	2	0	0	DNMT3B	30844226	30844226	0.562000	0.26586	1.000000	0.80357	0.974000	0.67602	0.794000	0.26958	0.114000	0.18032	0.459000	0.35465	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006892			57	55		249	241	1		1	0		0	0	60	0		1	1.641570e-01	0	0	0	4	0	57	249
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	573					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)			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						AGCCCGAAGGCGGCCCATTCG	0.582																																						ENST00000328111.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998462	0.990000	1.000000																										0				39						c.(1717-1719)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 beta							68.0	58.0	61.0					20																	31387092		2203	4300	6503	SO:0001583	missense	1789	3	121410	31				g.chr20:31387092C>T		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.1717C>T	chr20.hg19:g.31387092C>T	ENSP00000328547:p.Arg573Trp	0					DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W	p.R573W	NM_006892.3	NP_008823.1	1	2	3	1.995265	Q9UBC3	DNM3B_HUMAN		16	2038	+			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	1	1	hg19	c.1717C>T	CCDS13205.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238001	0.79800	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.97	2.59	0.31030	5.97	2.59	0.31030	.	0.057019	0.64402	D	0.000002	D	0.86615	0.5975	M	0.74258	2.255	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	0.87578	0.987;0.995;0.995;0.998;0.998;0.998;0.977	D	0.88022	0.2769	10	0.87932	D	0	-19.9396	14.2197	0.65818	0.5264:0.4736:0.0:0.0	.	477;511;272;565;553;553;573	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	573;553;553;511;477;553;565	ENSP00000328547:R573W;ENSP00000313397:R553W;ENSP00000337764:R553W;ENSP00000403169:R511W;ENSP00000412305:R477W;ENSP00000345105:R553W;ENSP00000201963:R565W	ENSP00000201963:R565W	R	+	1	2	2	DNMT3B	30850753	30850753	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.800000	0.34041	-0.169000	0.13324	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999990	1	0.170000	NM_006892			15	15		83	82	1		1	0		0	0	25	0		9.999020e-01	1.240323e-01	0	1	0	3	0	15	83
MAPRE1	22919	broad.mit.edu	37	20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	17	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443																																						ENST00000375571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(49-51)cGa>cAa		microtubule-associated protein, RP/EB family, member 1							164.0	136.0	146.0					20																	31413783		2203	4300	6503	SO:0001583	missense	22919	0	0					g.chr20:31413783G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.50G>A	chr20.hg19:g.31413783G>A	ENSP00000364721:p.Arg17Gln	0						p.R17Q	NM_012325.2	NP_036457.1	1	2	3	1.995265	Q15691	MARE1_HUMAN		2	189	+			B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	1	1	hg19	c.50G>A	CCDS13208.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996251	0.74818	.	.	ENSG00000101367	ENST00000375571	T	0.51574	0.7	5.76	4.82	0.62117	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	H	0.97051	3.93	0.80722	D	1	B	0.27791	0.189	B	0.14578	0.011	T	0.69379	-0.5161	10	0.72032	D	0.01	-1.0811	13.9326	0.64006	0.0725:0.0:0.9275:0.0	.	17	Q15691	MARE1_HUMAN	Q	17	ENSP00000364721:R17Q	ENSP00000364721:R17Q	R	+	2	0	0	MAPRE1	30877444	30877444	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.886000	0.87288	1.431000	0.47355	-0.140000	0.14226	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-3.437819	1	0.170000	NM_012325			93	89		386	381	1		1	1		0	0	103	0		1	1	0	77	0	303	0	93	386
MAPRE1	22919	broad.mit.edu	37	20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	94	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363																																						ENST00000375571.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				8						c.(280-282)Gac>Aac		microtubule-associated protein, RP/EB family, member 1							44.0	46.0	45.0					20																	31424452		2203	4299	6502	SO:0001583	missense	22919	0	0					g.chr20:31424452G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.280G>A	chr20.hg19:g.31424452G>A	ENSP00000364721:p.Asp94Asn	0						p.D94N	NM_012325.2	NP_036457.1	1	2	3	1.995265	Q15691	MARE1_HUMAN		4	419	+			B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	1	1	hg19	c.280G>A	CCDS13208.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000101367	ENST00000375571	D	0.94931	-3.56	4.45	4.45	0.53987	4.45	4.45	0.53987	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94204	0.7452	10	0.35671	T	0.21	-11.7265	16.6237	0.84936	0.0:0.0:1.0:0.0	.	94	Q15691	MARE1_HUMAN	N	94	ENSP00000364721:D94N	ENSP00000364721:D94N	D	+	1	0	0	MAPRE1	30888113	30888113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.328020	1	0.170000	NM_012325			41	41		231	225	1		1	1		0	0	61	0		1	1	0	84	0	386	0	41	231
DDRGK1	65992	broad.mit.edu	37	20	3175985	3175985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	175						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607																																						ENST00000354488.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(523-525)agG>agA		DDRGK domain containing 1							92.0	77.0	82.0					20																	3175985		2203	4300	6503	SO:0001819	synonymous_variant	65992	0	0					g.chr20:3175985C>T	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.525G>A	chr20.hg19:g.3175985C>T		0					DDRGK1_ENST00000380201.2_Silent_p.R175R	p.R175R	NM_023935.1	NP_076424.1	1	2	3	1.995265	Q96HY6	DDRGK_HUMAN		5	582	-			A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	ENST00000354488.3	1	1	hg19	c.525G>A	CCDS13050.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_023935			63	63		296	288	1		1	1		0	0	66	0		1	1	0	122	0	359	0	63	296
MAPRE1	22919	broad.mit.edu	37	20	31434492	31434492	+	Silent	SNP	G	G	A	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	222	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423																																						ENST00000375571.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(664-666)cgG>cgA		microtubule-associated protein, RP/EB family, member 1							181.0	171.0	174.0					20																	31434492		2203	4300	6503	SO:0001819	synonymous_variant	22919	0	0					g.chr20:31434492G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.666G>A	chr20.hg19:g.31434492G>A		0					RP5-1085F17.4_ENST00000565572.1_RNA	p.R222R	NM_012325.2	NP_036457.1	1	2	3	1.995265	Q15691	MARE1_HUMAN		6	805	+			B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	1	1	hg19	c.666G>A	CCDS13208.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1		17	2	2	0		0	1	176		176	175	1	2.060000	-20.000000	1	0.170000	NM_012325			167	164		708	690	1		1	1		0	0	176	0		1	1	0	133	0	467	0	167	708
CDK5RAP1	51654	broad.mit.edu	37	20	31973465	31973465	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	289					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTGCTCAGAAAGCTTCTTCA	0.498																																						ENST00000357886.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.987086	0.990000	1.000000																										0				26						c.(865-867)ctT>ctC		CDK5 regulatory subunit associated protein 1							109.0	103.0	105.0					20																	31973465		2203	4300	6503	SO:0001819	synonymous_variant	51654	0	0					g.chr20:31973465A>G	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.867T>C	chr20.hg19:g.31973465A>G		0					CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L	p.L289L			1	2	3	1.995265	Q96SZ6	CK5P1_HUMAN		7	1020	-			A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	1	1	hg19	c.867T>C		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_016408			42	40		390	375	0		1	1		0	0	88	0		1	9.924758e-01	0	8	0	64	0	42	390
CDK5RAP1	51654	broad.mit.edu	37	20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAGCGGGGCCGCCTTGTCTT	0.458																																						ENST00000357886.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(505-507)cGg>cAg		CDK5 regulatory subunit associated protein 1							83.0	87.0	86.0					20																	31979986		2203	4300	6503	SO:0001583	missense	51654	0	0					g.chr20:31979986C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.506G>A	chr20.hg19:g.31979986C>T	ENSP00000350558:p.Arg169Gln	0					CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q	p.R169Q			1	2	3	1.995265	Q96SZ6	CK5P1_HUMAN		5	659	-			A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	1	1	hg19	c.506G>A		1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491772	0.84962	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	T	0.81245	0.4782	M	0.84773	2.715	0.58432	D	0.999993	B;D;P;P;P;D;P	0.89917	0.256;1.0;0.955;0.955;0.955;0.976;0.857	B;D;B;B;B;B;B	0.83275	0.232;0.996;0.427;0.427;0.427;0.301;0.197	D	0.83688	0.0175	9	0.66056	D	0.02	-18.9715	16.238	0.82389	0.0:1.0:0.0:0.0	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	169;169;169;79;59;169	.	ENSP00000341840:R169Q	R	-	2	0	0	CDK5RAP1	31443647	31443647	1.000000	0.71417	0.887000	0.34795	0.970000	0.65996	5.288000	0.65651	2.702000	0.92279	0.591000	0.81541	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_016408			70	69		423	415	1		1	1		0	0	102	0		1	9.909614e-01	0	9	0	37	0	70	423
SLC4A11	83959	broad.mit.edu	37	20	3209045	3209045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380056.3	-	18	2513	c.2466G>T	c.(2464-2466)cgG>cgT	p.R822R	SLC4A11_ENST00000539553.2_Silent_p.R806R|SLC4A11_ENST00000380059.3_Silent_p.R849R|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	822	Membrane (bicarbonate transporter).				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)			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						GGGGCACCCTCCGGATGTAGT	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2464-2466)cgG>cgT		solute carrier family 4, sodium borate transporter, member 11							112.0	106.0	108.0					20																	3209045		2203	4300	6503	SO:0001819	synonymous_variant	83959	0	0					g.chr20:3209045C>A	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.2466G>T	chr20.hg19:g.3209045C>A		0					SLC4A11_ENST00000539553.2_Silent_p.R806R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.R849R	p.R822R	NM_032034.3	NP_114423.1	1	2	3	1.995265	Q8NBS3	S4A11_HUMAN		18	2513	-			B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	1	1	hg19	c.2466G>T	CCDS13052.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-2.848313	1	0.170000				110	107		551	540	1		1	1		0	0	118	0		1	9.999164e-01	0	11	0	58	0	110	551
SLC4A11	83959	broad.mit.edu	37	20	3212030	3212030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380056.3	-	7	989	c.942G>A	c.(940-942)gcG>gcA	p.A314A	SLC4A11_ENST00000539553.2_Silent_p.A298A|SLC4A11_ENST00000380059.3_Silent_p.A341A|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	314					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)			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						TCGTTCTCGGCGCCACTGGAC	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(940-942)gcG>gcA		solute carrier family 4, sodium borate transporter, member 11							79.0	77.0	78.0					20																	3212030		2203	4300	6503	SO:0001819	synonymous_variant	83959	4	121412	36				g.chr20:3212030C>T	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.942G>A	chr20.hg19:g.3212030C>T		0					SLC4A11_ENST00000539553.2_Silent_p.A298A|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.A341A	p.A314A	NM_032034.3	NP_114423.1	1	2	3	1.995265	Q8NBS3	S4A11_HUMAN		7	989	-			B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	1	1	hg19	c.942G>A	CCDS13052.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.271121	1	0.170000				70	69		331	325	1		1	1		0	0	88	0		1	9.959867e-01	0	26	0	16	0	70	331
SNTA1	6640	broad.mit.edu	37	20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	177	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)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGTAGAGTTCTTGAAATACG	0.567																																						ENST00000217381.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(529-531)aaG>aaT		syntrophin, alpha 1							90.0	89.0	90.0					20																	32005695		2203	4300	6503	SO:0001583	missense	6640	0	0					g.chr20:32005695C>A	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.531G>T	chr20.hg19:g.32005695C>A	ENSP00000217381:p.Lys177Asn	0						p.K177N	NM_003098.2	NP_003089.1	1	2	3	1.995265	Q13424	SNTA1_HUMAN		3	802	-			A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	1	1	hg19	c.531G>T	CCDS13220.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196233	0.78902	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	5.71	0.89125	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	L	0.49778	1.585	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-9.7851	13.7535	0.62921	0.0:0.9258:0.0:0.0742	.	177;177	B4DX40;Q13424	.;SNTA1_HUMAN	N	177	ENSP00000217381:K177N	ENSP00000217381:K177N	K	-	3	2	2	SNTA1	31469356	31469356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.618000	0.46393	2.694000	0.91930	0.655000	0.94253	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_003098			77	77		342	337	1		1	1		0	0	73	0		1	9.997343e-01	0	10	0	46	0	77	342
CBFA2T2	9139	broad.mit.edu	37	20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000346541.3	+	4	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(340-342)Cga>Tga		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							183.0	156.0	165.0					20																	32199034		2203	4300	6503	SO:0001587	stop_gained	9139	0	0					g.chr20:32199034C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.340C>T	chr20.hg19:g.32199034C>T	ENSP00000262653:p.Arg114*	0					CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*	p.R114*	NM_005093.3	NP_005084.1	1	2	3	1.995265	O43439	MTG8R_HUMAN		4	877	+			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Nonsense_Mutation	SNP	ENST00000346541.3	0	1	hg19	c.340C>T	CCDS13221.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.059881	0.98632	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	.	.	.	5.54	3.5	0.40072	5.54	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3704	13.1758	0.59626	0.42:0.58:0.0:0.0	.	.	.	.	X	114;105;105;85;114;85;85;124	.	ENSP00000345810:R105X	R	+	1	2	2	CBFA2T2	31662695	31662695	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	0.614000	0.30107	0.655000	0.94253	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.210198	1	0.170000	NM_001032999			126	126		538	531	1		1	1		0	0	118	0		1	9.382615e-01	0	4	0	18	0	126	538
CBFA2T2	9139	broad.mit.edu	37	20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000346541.3	+	7	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	269					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTCCTCGGCACAGTCCTGCT	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(805-807)cAc>cGc		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							122.0	101.0	108.0					20																	32212656		2203	4300	6503	SO:0001583	missense	9139	0	0					g.chr20:32212656A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.806A>G	chr20.hg19:g.32212656A>G	ENSP00000262653:p.His269Arg	0					CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	p.H269R	NM_005093.3	NP_005084.1	1	2	3	1.995265	O43439	MTG8R_HUMAN		7	1343	+			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	1	1	hg19	c.806A>G	CCDS13221.1	1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758999	0.49468	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.9;0.89;0.9;1.49	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.046008	0.85682	D	0.000000	T	0.61527	0.2354	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	T	0.61724	-0.7004	10	0.51188	T	0.08	-6.2373	16.2005	0.82071	1.0:0.0:0.0:0.0	.	269;260	O43439;F8W6D7	MTG8R_HUMAN;.	R	43;269;260;269;240;279	ENSP00000364428:H269R;ENSP00000345810:H260R;ENSP00000262653:H269R;ENSP00000380902:H240R;ENSP00000352622:H279R	ENSP00000345810:H260R	H	+	2	0	0	CBFA2T2	31676317	31676317	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	8.962000	0.93254	2.227000	0.72691	0.528000	0.53228	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_001032999			87	85		393	377	1		1	1		0	0	73	0		1	9.850067e-01	0	2	0	30	0	87	393
CBFA2T2	9139	broad.mit.edu	37	20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000346541.3	+	7	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	312					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAACAAGATGCTAGAGCATCG	0.473																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(934-936)Cta>Ata		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							93.0	79.0	84.0					20																	32212784		2203	4300	6503	SO:0001583	missense	9139	0	0					g.chr20:32212784C>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.934C>A	chr20.hg19:g.32212784C>A	ENSP00000262653:p.Leu312Ile	0					CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	p.L312I	NM_005093.3	NP_005084.1	1	2	3	1.995265	O43439	MTG8R_HUMAN		7	1471	+			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	1	1	hg19	c.934C>A	CCDS13221.1	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984649	0.35036	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.9;1.49	5.73	0.186	0.15105	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14570	0.0352	N	0.08118	0	0.49051	D	0.999741	P;P	0.41848	0.651;0.763	B;B	0.36845	0.212;0.234	T	0.12041	-1.0563	10	0.22109	T	0.4	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	I	86;312;303;312;283;322	ENSP00000364428:L312I;ENSP00000345810:L303I;ENSP00000262653:L312I;ENSP00000380902:L283I;ENSP00000352622:L322I	ENSP00000345810:L303I	L	+	1	2	2	CBFA2T2	31676445	31676445	0.110000	0.22057	0.990000	0.47175	0.870000	0.49936	-0.432000	0.06956	-0.172000	0.10779	-0.182000	0.12963	CTA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_001032999			59	57		223	219	1		1	1		0	0	60	0		1	9.884249e-01	0	12	0	17	0	59	223
CBFA2T2	9139	broad.mit.edu	37	20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000346541.3	+	12	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	561					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGCTGCTTCCTGTAGGCAGG	0.677																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1681-1683)cCt>cGt		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							49.0	52.0	51.0					20																	32232319		2203	4298	6501	SO:0001583	missense	9139	0	0					g.chr20:32232319C>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1682C>G	chr20.hg19:g.32232319C>G	ENSP00000262653:p.Pro561Arg	0					CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	p.P561R	NM_005093.3	NP_005084.1	1	2	3	1.995265	O43439	MTG8R_HUMAN		12	2219	+			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	1	1	hg19	c.1682C>G	CCDS13221.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095074	0.56075	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.46819	0.87;0.86;0.87;0.87;1.47	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.105066	0.64402	D	0.000003	T	0.33059	0.0850	N	0.08118	0	0.58432	D	0.999995	P;P	0.48016	0.904;0.688	B;B	0.40534	0.243;0.332	T	0.23190	-1.0195	10	0.42905	T	0.14	0.0038	20.2422	0.98381	0.0:1.0:0.0:0.0	.	561;552	O43439;F8W6D7	MTG8R_HUMAN;.	R	335;561;552;561;532;571;109	ENSP00000364428:P561R;ENSP00000345810:P552R;ENSP00000262653:P561R;ENSP00000380902:P532R;ENSP00000352622:P571R	ENSP00000345810:P552R	P	+	2	0	0	CBFA2T2	31695980	31695980	0.981000	0.34729	1.000000	0.80357	0.698000	0.40448	5.354000	0.66040	2.782000	0.95742	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-3.648144	1	0.170000	NM_001032999			112	109		435	424	1		1	1		0	0	74	0		1	8.674261e-01	0	6	0	10	0	112	435
C20orf194	25943	broad.mit.edu	37	20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313																																						ENST00000252032.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2845-2847)Cga>Tga		chromosome 20 open reading frame 194							94.0	87.0	89.0					20																	3245112		1845	4094	5939	SO:0001587	stop_gained	25943	1	120786	30				g.chr20:3245112G>A	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.2845C>T	chr20.hg19:g.3245112G>A	ENSP00000252032:p.Arg949*	0					C20orf194_ENST00000453730.2_3'UTR	p.R949*	NM_001009984.2	NP_001009984.1	1	2	3	1.995265	Q5TEA3	CT194_HUMAN		31	2912	-			Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	0	1	hg19	c.2845C>T	CCDS42851.1	1	.	.	.	.	.	.	.	.	.	.	G	40	7.937150	0.98571	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.14	4.06	0.47325	5.14	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8059	0.46518	0.0:0.0:0.5873:0.4126	.	.	.	.	X	949	.	ENSP00000252032:R949X	R	-	1	2	2	C20orf194	3193112	3193112	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.333000	0.65917	2.548000	0.85928	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-19.999970	1	0.170000	NM_001009984			41	39		175	172	1		1	0		0	0	52	0		1	9.446228e-01	0	1	0	22	0	41	175
ZNF341	84905	broad.mit.edu	37	20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A	rs376738185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000375200.1	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	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)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCTGCCAATCGCCAGGTATTT	0.547																																						ENST00000375200.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(334-336)cGc>cAc		zinc finger protein 341							30.0	32.0	32.0					20																	32333101		2203	4300	6503	SO:0001583	missense	84905	0	0					g.chr20:32333101G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.335G>A	chr20.hg19:g.32333101G>A	ENSP00000364346:p.Arg112His	0					ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	p.R112H	NM_001282933.1	NP_001269862.1	1	2	3	1.995265	Q9BYN7	ZN341_HUMAN		3	700	+			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	1	1	hg19	c.335G>A		1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363913	0.82353	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11169	3.08;2.8	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.218649	0.42053	D	0.000766	T	0.18299	0.0439	N	0.17082	0.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.19095	-1.0316	10	0.17369	T	0.5	-29.7316	17.3441	0.87305	0.0:0.0:1.0:0.0	.	112;112	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	112	ENSP00000344308:R112H;ENSP00000364346:R112H	ENSP00000344308:R112H	R	+	2	0	0	ZNF341	31796762	31796762	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.325000	0.90007	2.638000	0.89438	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-3.388821	1	0.170000				42	41		175	170	1		1	1		0	0	33	0		1	7.071060e-01	0	4	0	8	0	42	175
AHCY	191	broad.mit.edu	37	20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000217426.2	-	5	627	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	AHCY_ENST00000538132.1_Missense_Mutation_p.V156I|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	184					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTGACGGAGTCATTG	0.582																																						ENST00000217426.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(550-552)Gtc>Atc		adenosylhomocysteinase							141.0	124.0	130.0					20																	32879233		2203	4300	6503	SO:0001583	missense	191	0	0					g.chr20:32879233C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.550G>A	chr20.hg19:g.32879233C>T	ENSP00000217426:p.Val184Ile	0					AHCY_ENST00000538132.1_Missense_Mutation_p.V156I|AHCY_ENST00000468908.1_5'Flank	p.V184I	NM_000687.2	NP_000678.1	1	2	3	1.995265	P23526	SAHH_HUMAN		5	627	-			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	1	1	hg19	c.550G>A	CCDS13233.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022397	0.75275	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81821	-1.54;-1.54	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	L	0.42744	1.35	0.80722	D	1	B	0.23058	0.079	B	0.20577	0.03	T	0.74645	-0.3596	10	0.87932	D	0	.	19.3338	0.94306	0.0:1.0:0.0:0.0	.	184	P23526	SAHH_HUMAN	I	184;156	ENSP00000217426:V184I;ENSP00000442820:V156I	ENSP00000217426:V184I	V	-	1	0	0	AHCY	32342894	32342894	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	2.639000	0.89480	0.561000	0.74099	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	0	0	1		16	13	2	1		1	1	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_000687			80	79		419	408	1		1	1		1	0	109	0		1	1	0	118	0	257	0	80	419
AHCY	191	broad.mit.edu	37	20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000217426.2	-	2	171	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AHCY_ENST00000538132.1_Missense_Mutation_p.L4M|AHCY_ENST00000468908.1_5'UTR	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	32					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATACGCATCAGGCCCGGCATC	0.652																																						ENST00000217426.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(94-96)Ctg>Atg		adenosylhomocysteinase							37.0	33.0	34.0					20																	32883326		2203	4300	6503	SO:0001583	missense	191	0	0					g.chr20:32883326G>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.94C>A	chr20.hg19:g.32883326G>T	ENSP00000217426:p.Leu32Met	0					AHCY_ENST00000538132.1_Missense_Mutation_p.L4M|AHCY_ENST00000468908.1_5'UTR	p.L32M	NM_000687.2	NP_000678.1	1	2	3	1.995265	P23526	SAHH_HUMAN		2	171	-			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	1	1	hg19	c.94C>A	CCDS13233.1	1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.142990	0.57044	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.83673	-1.75;-1.75	4.96	0.755	0.18415	4.96	0.755	0.18415	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88632	0.3170	10	0.87932	D	0	.	9.1209	0.36786	0.3722:0.0:0.6278:0.0	.	4;32	B3KUN3;P23526	.;SAHH_HUMAN	M	32;4	ENSP00000217426:L32M;ENSP00000442820:L4M	ENSP00000217426:L32M	L	-	1	2	2	AHCY	32346987	32346987	1.000000	0.71417	0.991000	0.47740	0.440000	0.31957	3.479000	0.53165	-0.018000	0.14079	-0.355000	0.07637	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_000687			39	39		165	165	1		1	1		0	0	42	0		1	1	0	159	0	299	0	39	165
ITCH	83737	broad.mit.edu	37	20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000262650.6	+	14	1521	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR|ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000374864.4_Missense_Mutation_p.R421Q			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	462	Required for interaction with FYN.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACAACACACGAATTACACAA	0.398																																						ENST00000262650.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				36						c.(1384-1386)cGa>cAa		itchy E3 ubiquitin protein ligase							87.0	74.0	79.0					20																	33045246		2203	4300	6503	SO:0001583	missense	83737	1	121412	28				g.chr20:33045246G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1385G>A	chr20.hg19:g.33045246G>A	ENSP00000262650:p.Arg462Gln	0					ITCH_ENST00000374864.4_Missense_Mutation_p.R421Q|ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR	p.R462Q			1	2	3	1.995265	Q96J02	ITCH_HUMAN		14	1521	+			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	1	1	hg19	c.1385G>A	CCDS58768.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.899721	0.97081	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.984	D;D;P	0.72982	0.979;0.962;0.882	D	0.90880	0.4753	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	373;462;421	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	421;311;462	ENSP00000363998:R421Q;ENSP00000445608:R311Q;ENSP00000262650:R462Q	ENSP00000262650:R462Q	R	+	2	0	0	ITCH	32508907	32508907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.416401	1	0.170000				28	27		108	104	1		1	1		0	0	38	0		1	1	0	5	0	123	0	28	108
ITCH	83737	broad.mit.edu	37	20	33057852	33057852	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000262650.6	+	16	1683		c.e16-1		ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000374864.4_Splice_Site			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCTCAGAGACAATGGA	0.423																																						ENST00000262650.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.e16-1		itchy E3 ubiquitin protein ligase							223.0	211.0	215.0					20																	33057852		2203	4300	6503	SO:0001630	splice_region_variant	83737	0	0					g.chr20:33057852G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1548-1G>A	chr20.hg19:g.33057852G>A		0					ITCH_ENST00000374864.4_Splice_Site|ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_Splice_Site				1	2	3	1.995265	Q96J02	ITCH_HUMAN		16	1683	+			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Splice_Site	SNP	ENST00000262650.6	1	1	hg19		CCDS58768.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080202	0.94050	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ITCH	32521513	32521513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2	1	0	1		2	2	2	0		0	0	174		174	173	1	2.060000	-3.079350	1	0.170000		Intron		123	123		622	608	1		1	0		0	0	174	0		1	2.766612e-02	0	1	0	1	0	123	622
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627																																						ENST00000360668.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(208-210)cGc>cAc		microtubule-associated protein 1 light chain 3 alpha							31.0	40.0	37.0					20																	33147545		2195	4294	6489	SO:0001583	missense	84557	0	0					g.chr20:33147545G>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.209G>A	chr20.hg19:g.33147545G>A	ENSP00000353886:p.Arg70His	0					MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000476428.1_3'UTR	p.R70H			1	2	3	1.995265	Q9H492	MLP3A_HUMAN		4	970	+			E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	1	1	hg19	c.209G>A	CCDS13238.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479684	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.60797	0.16;0.16;0.16	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.327;0.999	B;P	0.61477	0.187;0.889	T	0.76852	-0.2806	10	0.66056	D	0.02	-7.2633	18.3968	0.90502	0.0:0.0:1.0:0.0	.	70;74	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	74;70;70	ENSP00000363970:R74H;ENSP00000353886:R70H;ENSP00000380821:R70H	ENSP00000353886:R70H	R	+	2	0	0	MAP1LC3A	32611206	32611206	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	1	0	1		2	2	2	0		0	0	122		122	117	1	2.060000	-3.575635	1	0.170000	NM_181509			119	116		471	463	0		1	1		0	0	122	0		1	1	0	76	0	214	0	119	471
TP53INP2	58476	broad.mit.edu	37	20	33296666	33296666	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Splice_Site_p.P41P	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	41					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667																																						ENST00000374810.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(121-123)ccG>ccA		tumor protein p53 inducible nuclear protein 2							40.0	40.0	40.0					20																	33296666		2202	4300	6502	SO:0001630	splice_region_variant	58476	1	121410	31				g.chr20:33296666G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.124+1G>A	chr20.hg19:g.33296666G>A		0					TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	p.P41P	NM_021202.1	NP_067025.1	1	2	3	1.995265	Q8IXH6	T53I2_HUMAN		3	512	+			A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Splice_Site	SNP	ENST00000374810.3	1	0	hg19	c.123G>A	CCDS13240.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-2.981912	1	0.170000	NM_021202	Silent		39	37		155	154	0		1	1		0	0	35	0		1	8.959630e-01	0	6	0	12	0	39	155
TP53INP2	58476	broad.mit.edu	37	20	33298084	33298084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.Q212Q	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	212					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697																																						ENST00000374810.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999906	0.990000	1.000000																										0				2						c.(634-636)caG>caA		tumor protein p53 inducible nuclear protein 2							23.0	22.0	22.0					20																	33298084		2203	4297	6500	SO:0001819	synonymous_variant	58476	0	0					g.chr20:33298084G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.636G>A	chr20.hg19:g.33298084G>A		0					TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	p.Q212Q	NM_021202.1	NP_067025.1	1	2	3	1.995265	Q8IXH6	T53I2_HUMAN		5	1025	+			A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	ENST00000374810.3	1	1	hg19	c.636G>A	CCDS13240.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_021202			17	17		67	67	1		1	1		0	0	20	0		9.999828e-01	9.856351e-01	0	8	0	23	0	17	67
NCOA6	23054	broad.mit.edu	37	20	33330454	33330454	+	Silent	SNP	C	C	T	rs372455229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1202	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)			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						TCTGGGTTGGCGCAGCCACAT	0.577																																						ENST00000374796.2	1.000000	0.830000	1	9.400000e-01	0.990000	0.979034	0.990000	1.000000																										0				107						c.(3604-3606)gcG>gcA		nuclear receptor coactivator 6		C	,	0,4406		0,0,2203	105.0	112.0	110.0		,3606	-6.1	1.0	20		110	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,1202/2064	33330454	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23054	6	121412	40				g.chr20:33330454C>T	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.3606G>A	chr20.hg19:g.33330454C>T		0					NCOA6_ENST00000359003.2_Silent_p.A1202A	p.A1202A			1	2	3	1.995265	Q14686	NCOA6_HUMAN		12	6176	-			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	1	1	hg19	c.3606G>A	CCDS13241.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-16.917460	1	0.170000	NM_014071			66	63		669	643	1		1	1		0	0	120	0		1	9.995472e-01	0	12	0	102	0	66	669
NCOA6	23054	broad.mit.edu	37	20	33345486	33345486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	355	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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)			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						CCTGGAGTTGCTGTTGCATTG	0.592																																						ENST00000374796.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1063-1065)caG>caA		nuclear receptor coactivator 6							89.0	86.0	87.0					20																	33345486		2203	4300	6503	SO:0001819	synonymous_variant	23054	0	0					g.chr20:33345486C>T	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.1065G>A	chr20.hg19:g.33345486C>T		0					NCOA6_ENST00000359003.2_Silent_p.Q355Q	p.Q355Q			1	2	3	1.995265	Q14686	NCOA6_HUMAN		8	3635	-			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	1	1	hg19	c.1065G>A	CCDS13241.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_014071			71	68		375	361	1		1	1		0	0	61	0		1	9.998719e-01	0	21	0	50	0	71	375
GGT7	2686	broad.mit.edu	37	20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A	rs199667196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	307					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)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGTCGGGCCGATGCAGCAAC	0.662																																						ENST00000336431.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				20						c.(919-921)Cgg>Tgg		gamma-glutamyltransferase 7		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	32.0	26.0	28.0		919	0.9	0.5	20		28	0,8596		0,0,4298	yes	missense	GGT7	NM_178026.2	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	307/663	33447341	1,12999	2202	4298	6500	SO:0001583	missense	2686	3	121364	33				g.chr20:33447341G>A	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.919C>T	chr20.hg19:g.33447341G>A	ENSP00000338964:p.Arg307Trp	0						p.R307W	NM_178026.2	NP_821158.2	1	2	3	1.995265	Q9UJ14	GGT7_HUMAN		7	963	-			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	0	1	hg19	c.919C>T	CCDS13242.2	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305865	0.60305	2.27E-4	0.0	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	0.916	0.19373	5.84	0.916	0.19373	.	0.059319	0.64402	D	0.000003	T	0.25975	0.0633	M	0.71871	2.18	0.32068	N	0.594845	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.39121	-0.9629	10	0.66056	D	0.02	-16.4042	15.8612	0.79021	0.0:0.0:0.4708:0.5292	.	307;307	A4FU32;Q9UJ14	.;GGT7_HUMAN	W	307	ENSP00000338964:R307W	ENSP00000338964:R307W	R	-	1	2	2	GGT7	32911002	32911002	0.990000	0.36364	0.514000	0.27761	0.736000	0.42039	2.037000	0.41174	0.322000	0.23283	0.561000	0.74099	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	1	0	1		2	2	2	0		0	0	13		13	11	1	2.060000	-20.000000	1	0.170000	NM_178026			28	24		127	104	1		1	1		0	0	13	0		9.999999e-01	9.993040e-01	0	13	0	43	0	28	127
GGT7	2686	broad.mit.edu	37	20	33450737	33450737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33450737G>T	ENST00000336431.5	-	3	481	c.437C>A	c.(436-438)gCt>gAt	p.A146D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	146					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)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCAGCGGGCAGCATCGGTCAC	0.617																																						ENST00000336431.5	1.000000	0.300000	9.100000e-01	4.400000e-01	0.640000	0.665495	0.640000	1.000000																										0				20						c.(436-438)gCt>gAt		gamma-glutamyltransferase 7							53.0	39.0	44.0					20																	33450737		2203	4300	6503	SO:0001583	missense	2686	0	0					g.chr20:33450737G>T	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.437C>A	chr20.hg19:g.33450737G>T	ENSP00000338964:p.Ala146Asp	0						p.A146D	NM_178026.2	NP_821158.2	1	2	3	1.995265	Q9UJ14	GGT7_HUMAN		3	481	-			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	0	1	hg19	c.437C>A	CCDS13242.2	0	.	.	.	.	.	.	.	.	.	.	g	13.54	2.268618	0.40095	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.21031	2.03;2.03	5.47	4.53	0.55603	5.47	4.53	0.55603	.	0.123215	0.53938	D	0.000045	T	0.30696	0.0773	L	0.31207	0.915	0.51233	D	0.999915	D;D;D	0.71674	0.997;0.998;0.994	D;P;P	0.64410	0.925;0.889;0.844	T	0.02333	-1.1175	10	0.28530	T	0.3	-14.157	14.2309	0.65892	0.0713:0.0:0.9287:0.0	.	146;146;146	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	D	146;163	ENSP00000338964:A146D;ENSP00000394993:A163D	ENSP00000338964:A146D	A	-	2	0	0	GGT7	32914398	32914398	1.000000	0.71417	0.853000	0.33588	0.259000	0.26198	5.058000	0.64300	1.319000	0.45190	-0.141000	0.14075	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	0	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-11.680860	1	0.170000	NM_178026			8	7		147	145	0		1	1		0	0	23	0		9.891223e-01	8.553075e-01	0	6	0	61	0	8	147
ACSS2	55902	broad.mit.edu	37	20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	429					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)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592																																						ENST00000360596.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1285-1287)cGg>cAg		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						67.0	69.0	68.0					20																	33509141		2203	4300	6503	SO:0001583	missense	55902	0	0					g.chr20:33509141G>A	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.1286G>A	chr20.hg19:g.33509141G>A	ENSP00000353804:p.Arg429Gln	0					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	p.R429Q	NM_018677.3	NP_061147.1	1	2	3	1.995265	Q9NR19	ACSA_HUMAN		11	1497	+			A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	1	1	hg19	c.1286G>A	CCDS13243.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.275405	0.95459	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.49432	0.78;2.86;2.86	5.52	5.52	0.82312	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.975	T	0.74551	-0.3628	10	0.87932	D	0	-11.6693	19.6361	0.95733	0.0:0.0:1.0:0.0	.	442;429	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	379;429;427;137;442	ENSP00000337190:R379Q;ENSP00000353804:R429Q;ENSP00000253382:R442Q	ENSP00000253382:R442Q	R	+	2	0	0	ACSS2	32972802	32972802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.425000	0.73370	2.878000	0.98634	0.650000	0.86243	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-2.391581	0	0.170000	NM_018677			66	66		370	363	1		1	1		0	0	103	0		1	1	0	51	0	100	0	66	370
GSS	2937	broad.mit.edu	37	20	33517274	33517274	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000541098.1_Silent_p.L283L|GSS_ENST00000451957.2_Silent_p.L300L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	411					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547																																						ENST00000216951.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1231-1233)Cta>Tta		glutathione synthetase	Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						216.0	197.0	204.0					20																	33517274		2203	4300	6503	SO:0001819	synonymous_variant	2937	0	0					g.chr20:33517274G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1231C>T	chr20.hg19:g.33517274G>A		0					GSS_ENST00000451957.2_Silent_p.L300L|GSS_ENST00000541098.1_Silent_p.L283L	p.L411L	NM_000178.2	NP_000169.1	1	2	3	1.995265	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)	12	1329	-			B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	1	1	hg19	c.1231C>T	CCDS13245.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2	1	0	1		2	2	2	0		0	0	255		255	248	1	2.060000	-20.000000	1	0.170000				239	236		1078	1049	1		1	1		0	0	255	0		1	1	0	73	0	144	0	239	1078
GSS	2937	broad.mit.edu	37	20	33523406	33523406	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000541098.1_Silent_p.G141G|GSS_ENST00000451957.2_Silent_p.G158G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	269	Substrate binding.				aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483																																						ENST00000216951.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(805-807)ggC>ggA		glutathione synthetase	Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						109.0	89.0	95.0					20																	33523406		2203	4300	6503	SO:0001819	synonymous_variant	2937	0	0					g.chr20:33523406G>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.807C>A	chr20.hg19:g.33523406G>T		0					GSS_ENST00000451957.2_Silent_p.G158G|GSS_ENST00000541098.1_Silent_p.G141G	p.G269G	NM_000178.2	NP_000169.1	1	2	3	1.995265	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)	9	905	-			B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	1	1	hg19	c.807C>A	CCDS13245.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				54	54		194	185	1		1	1		0	0	76	0		1	1	0	79	0	135	0	54	194
MYH7B	57644	broad.mit.edu	37	20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	12						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGTCTGCCCGCTACCTCCGC	0.607																																						ENST00000262873.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(160-162)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							80.0	85.0	83.0					20																	33565843		2184	4281	6465	SO:0001583	missense	57644	0	0					g.chr20:33565843G>A	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.161G>A	chr20.hg19:g.33565843G>A	ENSP00000262873:p.Arg54His	0						p.R54H	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	3	253	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.161G>A	CCDS42869.1	1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319059	0.41096	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	4.98	1.68	0.24146	4.98	1.68	0.24146	.	0.716583	0.11545	N	0.553324	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.58624	-0.7604	10	0.56958	D	0.05	.	5.5154	0.16904	0.2844:0.4509:0.2647:0.0	.	12	A7E2Y1	MYH7B_HUMAN	H	54	ENSP00000262873:R54H	ENSP00000262873:R54H	R	+	2	0	0	MYH7B	33029504	33029504	0.000000	0.05858	0.998000	0.56505	0.917000	0.54804	0.014000	0.13333	0.642000	0.30620	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_020884			105	103		458	448	1		1	0		0	0	127	0		1	0	0	0	0	1	0	105	458
MYH7B	57644	broad.mit.edu	37	20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A	rs539864476	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		12837	0.0		0.002	False		,,,				2504	0.0					ENST00000262873.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(370-372)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							67.0	71.0	70.0					20																	33567510		2179	4282	6461	SO:0001583	missense	57644	18	121324	45				g.chr20:33567510G>A	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.371G>A	chr20.hg19:g.33567510G>A	ENSP00000262873:p.Arg124His	0						p.R124H	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	5	463	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.371G>A	CCDS42869.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179720	0.78564	.	.	ENSG00000078814	ENST00000262873	T	0.71817	-0.6	4.31	4.31	0.51392	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.38436	N	0.001682	T	0.53094	0.1775	L	0.42686	1.345	0.39505	D	0.968266	P	0.47762	0.9	B	0.34093	0.175	T	0.62048	-0.6936	10	0.87932	D	0	.	5.3674	0.16121	0.2536:0.0:0.7464:0.0	.	82	A7E2Y1	MYH7B_HUMAN	H	124	ENSP00000262873:R124H	ENSP00000262873:R124H	R	+	2	0	0	MYH7B	33031171	33031171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.387000	0.79785	2.383000	0.81215	0.561000	0.74099	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	87		87	83	1	2.060000	-20.000000	1	0.170000	NM_020884			98	96		394	379	1		1	0		0	0	87	0		1	4.032258e-02	0	1	0	1	0	98	394
MYH7B	57644	broad.mit.edu	37	20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A	rs376103118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	466	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGGACATCGCTGGGTTTGA	0.607																																						ENST00000262873.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1522-1524)Gct>Act		myosin, heavy chain 7B, cardiac muscle, beta		G	THR/ALA	1,4313		0,1,2156	54.0	63.0	60.0		1522	3.7	1.0	20		60	0,8572		0,0,4286	no	missense	MYH7B	NM_020884.3	58	0,1,6442	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	508/1984	33575697	1,12885	2157	4286	6443	SO:0001583	missense	57644	1	121236	35				g.chr20:33575697G>A	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.1522G>A	chr20.hg19:g.33575697G>A	ENSP00000262873:p.Ala508Thr	0					MIR499A_ENST00000384903.1_RNA	p.A508T	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	16	1614	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.1522G>A	CCDS42869.1	1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814580	0.70912	2.32E-4	0.0	ENSG00000078814	ENST00000262873	T	0.72505	-0.66	3.74	3.74	0.42951	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.35708	N	0.003031	D	0.84447	0.5474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85621	0.1264	10	0.42905	T	0.14	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	466	A7E2Y1	MYH7B_HUMAN	T	508	ENSP00000262873:A508T	ENSP00000262873:A508T	A	+	1	0	0	MYH7B	33039358	33039358	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_020884			67	64		368	361	1		1			0	0	106	0		1	0	0	0	0	0	0	67	368
MYH7B	57644	broad.mit.edu	37	20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	550	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAGACGCCAGCTTCCGGGCC	0.592																																						ENST00000262873.7	1.000000	0.300000	7.100000e-01	4.100000e-01	0.540000	0.568808	0.540000	0.510000																										0				54						c.(1774-1776)aGc>aTc		myosin, heavy chain 7B, cardiac muscle, beta							57.0	63.0	61.0					20																	33577604		2201	4300	6501	SO:0001583	missense	57644	0	0					g.chr20:33577604G>T	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.1775G>T	chr20.hg19:g.33577604G>T	ENSP00000262873:p.Ser592Ile	0					MIR499A_ENST00000384903.1_RNA	p.S592I	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	18	1867	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.1775G>T	CCDS42869.1	0	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381992	0.61845	.	.	ENSG00000078814	ENST00000262873	D	0.88431	-2.38	4.5	4.5	0.54988	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45361	D	0.000376	D	0.92935	0.7752	M	0.92026	3.265	0.37939	D	0.932263	P	0.45569	0.861	P	0.49887	0.625	D	0.95124	0.8249	10	0.87932	D	0	.	12.2402	0.54538	0.0:0.3167:0.6833:0.0	.	550	A7E2Y1	MYH7B_HUMAN	I	592	ENSP00000262873:S592I	ENSP00000262873:S592I	S	+	2	0	0	MYH7B	33041265	33041265	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.988000	0.56951	2.503000	0.84419	0.561000	0.74099	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-15.187640	1	0.170000	NM_020884			14	13		303	297	0		1	0		0	0	58	0		9.997319e-01	2.351097e-03	0	0	0	2	0	14	303
MYH7B	57644	broad.mit.edu	37	20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	681	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGCTGCATTGTCCCCAACGA	0.627																																						ENST00000262873.7	1.000000	0.320000	7.200000e-01	4.200000e-01	0.550000	0.579273	0.550000	0.530000																										0				54						c.(2167-2169)Gtc>Atc		myosin, heavy chain 7B, cardiac muscle, beta							54.0	60.0	58.0					20																	33578604		2043	4197	6240	SO:0001583	missense	57644	0	0					g.chr20:33578604G>A	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.2167G>A	chr20.hg19:g.33578604G>A	ENSP00000262873:p.Val723Ile	0					MIR499A_ENST00000384903.1_RNA	p.V723I	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	21	2259	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.2167G>A	CCDS42869.1	0	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279273	0.05642	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	3.8	3.8	0.43715	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004041	T	0.45175	0.1329	N	0.00162	-1.95	0.37813	D	0.928124	B	0.09022	0.002	B	0.10450	0.005	T	0.60321	-0.7286	10	0.02654	T	1	.	4.53	0.12001	0.273:0.0:0.727:0.0	.	681	A7E2Y1	MYH7B_HUMAN	I	723	ENSP00000262873:V723I	ENSP00000262873:V723I	V	+	1	0	0	MYH7B	33042265	33042265	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	7.426000	0.80270	2.422000	0.82143	0.561000	0.74099	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-16.904020	1	0.170000	NM_020884			16	16		337	327	0		1	0		0	0	87	0		9.999214e-01	1.351831e-02	0	0	0	4	0	16	337
MYH7B	57644	broad.mit.edu	37	20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	713	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGATCTGCCGCCAAGGGTTC	0.647																																						ENST00000262873.7	1.000000	0.900000	1	9.900000e-01	0.990000	0.994342	0.990000	1.000000																										0				54						c.(2263-2265)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							63.0	70.0	68.0					20																	33578879		2114	4266	6380	SO:0001583	missense	57644	0	0					g.chr20:33578879G>A	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.2264G>A	chr20.hg19:g.33578879G>A	ENSP00000262873:p.Arg755His	0					MIR499A_ENST00000384903.1_RNA	p.R755H	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	22	2356	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.2264G>A	CCDS42869.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058244	0.76074	.	.	ENSG00000078814	ENST00000262873	T	0.74842	-0.88	3.7	3.7	0.42460	3.7	3.7	0.42460	Myosin head, motor domain (2);	0.000000	0.38111	N	0.001811	D	0.88819	0.6540	H	0.95114	3.625	0.58432	D	0.999998	D	0.69078	0.997	P	0.60949	0.881	D	0.92757	0.6221	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	713	A7E2Y1	MYH7B_HUMAN	H	755	ENSP00000262873:R755H	ENSP00000262873:R755H	R	+	2	0	0	MYH7B	33042540	33042540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.379000	0.81126	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-13.360170	1	0.170000	NM_020884			35	37		293	291	1		1	0		0	0	64	0		1	0	0	0	0	1	0	35	293
MYH7B	57644	broad.mit.edu	37	20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	896						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGACCTGGCCCTGCAGCTGCA	0.672																																						ENST00000262873.7	1.000000	0.610000	1	7.800000e-01	0.990000	0.916978	0.990000	1.000000																										0				54						c.(2812-2814)Ctg>Atg		myosin, heavy chain 7B, cardiac muscle, beta							18.0	24.0	22.0					20																	33582190		2097	4211	6308	SO:0001583	missense	57644	0	0					g.chr20:33582190C>A	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.2812C>A	chr20.hg19:g.33582190C>A	ENSP00000262873:p.Leu938Met	0						p.L938M	NM_020884.3	NP_065935.2	1	2	3	1.995265	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)	25	2904	+			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	1	1	hg19	c.2812C>A	CCDS42869.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693707	0.48202	.	.	ENSG00000078814	ENST00000262873	D	0.94000	-3.33	4.32	-1.0	0.10196	4.32	-1.0	0.10196	.	0.000000	0.30201	N	0.010175	D	0.95736	0.8613	M	0.85542	2.76	0.34256	D	0.67939	D	0.76494	0.999	D	0.85130	0.997	D	0.94844	0.8007	10	0.59425	D	0.04	.	9.0813	0.36554	0.0:0.626:0.0:0.374	.	896	A7E2Y1	MYH7B_HUMAN	M	938	ENSP00000262873:L938M	ENSP00000262873:L938M	L	+	1	2	2	MYH7B	33045851	33045851	0.552000	0.26505	0.976000	0.42696	0.779000	0.44077	1.227000	0.32576	-0.240000	0.09696	-0.768000	0.03414	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-19.999910	1	0.170000	NM_020884			18	18		200	198	0		1			0	0	30	0		9.999842e-01	0	0	0	0	0	0	18	200
C20orf194	25943	broad.mit.edu	37	20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N	U3_ENST00000364476.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567																																						ENST00000252032.9	1.000000	0.970000	1	9.900000e-01	0.990000	0.997612	0.990000	1.000000																										0				39						c.(109-111)aGc>aAc		chromosome 20 open reading frame 194							57.0	60.0	59.0					20																	3363127		2029	4185	6214	SO:0001583	missense	25943	0	0					g.chr20:3363127C>T	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.110G>A	chr20.hg19:g.3363127C>T	ENSP00000252032:p.Ser37Asn	0					U3_ENST00000364476.1_RNA	p.S37N	NM_001009984.2	NP_001009984.1	1	2	3	1.995265	Q5TEA3	CT194_HUMAN		2	177	-			Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	1	1	hg19	c.110G>A	CCDS42851.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982398	0.53827	.	.	ENSG00000088854	ENST00000252032	T	0.19532	2.14	5.79	3.88	0.44766	5.79	3.88	0.44766	.	0.564362	0.20972	N	0.082372	T	0.21267	0.0512	L	0.56769	1.78	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.03576	-1.1023	10	0.72032	D	0.01	.	8.5911	0.33688	0.0:0.7658:0.0:0.2342	.	37	Q5TEA3	CT194_HUMAN	N	37	ENSP00000252032:S37N	ENSP00000252032:S37N	S	-	2	0	0	C20orf194	3311127	3311127	0.977000	0.34250	0.924000	0.36721	0.994000	0.84299	1.387000	0.34430	0.796000	0.33947	0.655000	0.94253	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_001009984			26	25		188	181	1		1	1		0	0	60	0		9.999999e-01	2.645486e-01	0	3	0	5	0	26	188
TRPC4AP	26133	broad.mit.edu	37	20	33591414	33591414	+	Silent	SNP	G	G	A	rs145462116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N|TRPC4AP_ENST00000539834.1_Silent_p.N287N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	685					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)			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)			GGCAGCTGACGTTCTCCTGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16071	0.0		0.0	False		,,,				2504	0.0					ENST00000252015.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2053-2055)aaC>aaT		transient receptor potential cation channel, subfamily C, member 4 associated protein		G	,	4,4402	8.1+/-20.4	0,4,2199	31.0	27.0	29.0		2055,2031	-8.0	0.5	20	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	685/798,677/790	33591414	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26133	3	121398	34				g.chr20:33591414G>A	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.2055C>T	chr20.hg19:g.33591414G>A		0					TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N	p.N685N			1	2	3	1.995265	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)	18	2144	-			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	1	1	hg19	c.2055C>T	CCDS13246.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_015638			41	41		91	89	1		1	1		0	0	21	0		1	1	0	76	0	251	0	41	91
EDEM2	55741	broad.mit.edu	37	20	33719541	33719541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	ENST00000374492.3	-	7	853	c.748G>A	c.(748-750)Gac>Aac	p.D250N	EDEM2_ENST00000540582.1_Missense_Mutation_p.D209N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	250					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGCCTGCGTCCTGGGCCACC	0.557																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000374492.3	1.000000	0.260000	4.800000e-01	3.100000e-01	0.380000	0.421845	0.380000	0.390000																										0				22						c.(748-750)Gac>Aac		ER degradation enhancer, mannosidase alpha-like 2							109.0	110.0	110.0					20																	33719541		2203	4300	6503	SO:0001583	missense	55741	1	121412	28				g.chr20:33719541C>T	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.748G>A	chr20.hg19:g.33719541C>T	ENSP00000363616:p.Asp250Asn	0					EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N|EDEM2_ENST00000540582.1_Missense_Mutation_p.D209N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N	p.D250N	NM_018217.2	NP_060687.2	1	2	3	1.995265	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)	7	853	-			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	1	1	hg19	c.748G>A	CCDS13247.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.809335	0.96975	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.49699	1.58	0.80722	D	1	P;D;D;D	0.89917	0.765;1.0;1.0;1.0	B;D;D;D	0.87578	0.201;0.998;0.995;0.997	T	0.82575	-0.0389	10	0.87932	D	0	-22.4335	20.2084	0.98285	0.0:1.0:0.0:0.0	.	209;29;213;250	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	N	213;250;29;209	ENSP00000363615:D213N;ENSP00000363616:D250N;ENSP00000443528:D29N;ENSP00000441548:D209N	ENSP00000363615:D213N	D	-	1	0	0	EDEM2	33183202	33183202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.774000	0.95407	0.650000	0.86243	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	0	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-3.745190	1	0.170000	NM_018217			28	27		837	821	0		1	1		0	0	135	0		1	9.810019e-01	0	9	0	180	0	28	837
EDEM2	55741	broad.mit.edu	37	20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A	rs570573727		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000374492.3	-	5	545	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	147					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15310	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000374492.3	1.000000	0.610000	9.300000e-01	7.000000e-01	0.800000	0.815870	0.800000	1.000000																										0				22						c.(439-441)tCc>tTc		ER degradation enhancer, mannosidase alpha-like 2							86.0	93.0	90.0					20																	33725733		2203	4300	6503	SO:0001583	missense	55741	3	121412	35				g.chr20:33725733G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.440C>T	chr20.hg19:g.33725733G>A	ENSP00000363616:p.Ser147Phe	0					EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F	p.S147F	NM_018217.2	NP_060687.2	1	2	3	1.995265	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)	5	545	-			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	1	1	hg19	c.440C>T	CCDS13247.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.197311	0.94960	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.103011	0.64402	D	0.000001	T	0.79713	0.4493	L	0.47716	1.5	0.80722	D	1	P;P;P	0.52316	0.857;0.941;0.952	P;P;P	0.60682	0.613;0.735;0.878	T	0.80341	-0.1423	10	0.87932	D	0	-13.1246	19.5944	0.95530	0.0:0.0:1.0:0.0	.	106;110;147	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	110;147;106	ENSP00000363615:S110F;ENSP00000363616:S147F;ENSP00000441548:S106F	ENSP00000363615:S110F	S	-	2	0	0	EDEM2	33189394	33189394	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	9.633000	0.98432	2.868000	0.98415	0.555000	0.69702	TCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	1	0	1		2	2	2	0		0	0	161		161	157	1	2.060000	-11.019690	1	0.170000	NM_018217			55	53		757	740	1		1	1		0	0	161	0		1	9.995630e-01	0	16	0	139	0	55	757
MMP24	10893	broad.mit.edu	37	20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	122					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CGGGATCCCGGTCACCGGTGT	0.507																																						ENST00000246186.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(364-366)Gtc>Ttc		matrix metallopeptidase 24 (membrane-inserted)	Marimastat(DB00786)						118.0	115.0	116.0					20																	33834760		2045	4192	6237	SO:0001583	missense	10893	0	0					g.chr20:33834760G>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.364G>T	chr20.hg19:g.33834760G>T	ENSP00000246186:p.Val122Phe	0					MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	p.V122F	NM_006690.3	NP_006681.1	1	2	3	1.995265	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)	2	449	+			B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	1	1	hg19	c.364G>T	CCDS46593.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.295962	0.95574	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.47177	0.85	5.5	5.5	0.81552	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91818	3.245	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.80688	-0.1271	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:0.0:1.0:0.0	.	122	Q9Y5R2	MMP24_HUMAN	F	122;70	ENSP00000246186:V122F	ENSP00000246186:V122F	V	+	1	0	0	MMP24	33298176	33298176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.756000	0.85195	2.864000	0.98301	0.551000	0.68910	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_006690			66	66		332	328	1		1	0		0	0	69	0		1	2.840399e-02	0	0	0	2	0	66	332
FAM83C	128876	broad.mit.edu	37	20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	711										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCAGGTCACTGTTACCACC	0.562																																						ENST00000374408.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2131-2133)aGt>aTt		family with sequence similarity 83, member C							112.0	106.0	108.0					20																	33874450		2203	4300	6503	SO:0001583	missense	128876	0	0					g.chr20:33874450C>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2132G>T	chr20.hg19:g.33874450C>A	ENSP00000363529:p.Ser711Ile	0					FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	p.S711I	NM_178468.5	NP_848563.1	1	2	3	1.995265	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)	4	2228	-			Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	1	1	hg19	c.2132G>T	CCDS13251.1	1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038302	0.08148	.	.	ENSG00000125998	ENST00000374408	T	0.07567	3.18	4.43	0.193	0.15139	4.43	0.193	0.15139	.	1.521730	0.03597	N	0.232847	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.38950	-0.9637	10	0.87932	D	0	-10.6538	4.8603	0.13581	0.0:0.2742:0.1535:0.5723	.	711	Q9BQN1	FA83C_HUMAN	I	711	ENSP00000363529:S711I	ENSP00000363529:S711I	S	-	2	0	0	FAM83C	33337864	33337864	0.299000	0.24426	0.943000	0.38184	0.006000	0.05464	0.540000	0.23191	0.285000	0.22329	-0.672000	0.03802	AGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000				97	97		382	378	1		1			0	0	118	0		1	0	0	0	0	0	0	97	382
FAM83C	128876	broad.mit.edu	37	20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	139										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGAAGCCTGTGGCCTGTGG	0.617																																						ENST00000374408.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(415-417)aCa>aTa		family with sequence similarity 83, member C							77.0	79.0	78.0					20																	33879692		2203	4300	6503	SO:0001583	missense	128876	0	0					g.chr20:33879692G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.416C>T	chr20.hg19:g.33879692G>A	ENSP00000363529:p.Thr139Ile	0						p.T139I	NM_178468.5	NP_848563.1	1	2	3	1.995265	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)	1	512	-			Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	1	1	hg19	c.416C>T	CCDS13251.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054034	0.55218	.	.	ENSG00000125998	ENST00000374408	T	0.11277	2.79	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.338132	0.30959	N	0.008532	T	0.24044	0.0582	L	0.38531	1.155	0.48830	D	0.999719	D	0.89917	1.0	D	0.79784	0.993	T	0.00472	-1.1719	10	0.41790	T	0.15	-27.7727	17.0208	0.86433	0.0:0.0:1.0:0.0	.	139	Q9BQN1	FA83C_HUMAN	I	139	ENSP00000363529:T139I	ENSP00000363529:T139I	T	-	2	0	0	FAM83C	33343106	33343106	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.363000	0.52321	2.682000	0.91365	0.561000	0.74099	ACA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000				129	127		594	580	1		1			0	0	109	0		1	0	0	0	0	0	0	129	594
FAM83C	128876	broad.mit.edu	37	20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	87										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCAGGGCCCCCGCGCACATGG	0.677																																						ENST00000374408.3	1.000000	0.260000	6.300000e-01	3.500000e-01	0.470000	0.505815	0.470000	0.450000																										0				40						c.(259-261)Ggg>Agg		family with sequence similarity 83, member C							36.0	39.0	38.0					20																	33879849		2203	4299	6502	SO:0001583	missense	128876	6	121386	39				g.chr20:33879849C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.259G>A	chr20.hg19:g.33879849C>T	ENSP00000363529:p.Gly87Arg	0						p.G87R	NM_178468.5	NP_848563.1	1	2	3	1.995265	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)	1	355	-			Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	1	1	hg19	c.259G>A	CCDS13251.1	0	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315752	0.23908	.	.	ENSG00000125998	ENST00000374408	T	0.10477	2.87	5.38	2.36	0.29203	5.38	2.36	0.29203	.	0.421653	0.25250	N	0.032033	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999992	B	0.23185	0.081	B	0.20384	0.029	T	0.35871	-0.9771	10	0.17369	T	0.5	-21.0526	10.2058	0.43112	0.0:0.7813:0.0:0.2187	.	87	Q9BQN1	FA83C_HUMAN	R	87	ENSP00000363529:G87R	ENSP00000363529:G87R	G	-	1	0	0	FAM83C	33343263	33343263	0.001000	0.12720	0.001000	0.08648	0.350000	0.29205	1.119000	0.31258	0.341000	0.23771	0.462000	0.41574	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	0	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-2.873744	1	0.170000				13	13		324	323	0		1			0	0	70	0		9.995491e-01	0	0	0	0	0	0	13	324
GDF5	8200	broad.mit.edu	37	20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5	102					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)			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)			TCAGGGCCGCCCGGTCTGGGG	0.647																																						ENST00000374372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(304-306)Ggc>Agc		growth differentiation factor 5							42.0	46.0	44.0					20																	34025405		2203	4300	6503	SO:0001583	missense	8200	0	0					g.chr20:34025405C>T	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.304G>A	chr20.hg19:g.34025405C>T	ENSP00000363492:p.Gly102Ser	0					GDF5_ENST00000374369.3_Missense_Mutation_p.G102S	p.G102S			1	2	3	1.995265	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)	3	807	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	1	1	hg19	c.304G>A	CCDS13254.1	1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28454	1.61;1.61	4.39	4.39	0.52855	4.39	4.39	0.52855	.	1.770760	0.03377	N	0.199874	T	0.30039	0.0752	N	0.24115	0.695	0.22858	N	0.998645	B;B	0.21520	0.057;0.057	B;B	0.12837	0.008;0.008	T	0.37619	-0.9698	10	0.49607	T	0.09	.	17.1029	0.86654	0.0:1.0:0.0:0.0	.	102;102	F1T0J1;P43026	.;GDF5_HUMAN	S	102	ENSP00000363489:G102S;ENSP00000363492:G102S	ENSP00000363489:G102S	G	-	1	0	0	GDF5	33488819	33488819	0.830000	0.29337	0.996000	0.52242	0.169000	0.22640	1.837000	0.39201	2.256000	0.74724	0.313000	0.20887	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2	1	0	1		2	2	2	0		0	0	52		52	49	1	2.060000	-20.000000	1	0.170000				71	69		270	262	1		1			0	0	52	0		1	0	0	0	0	0	0	71	270
CEP250	11190	broad.mit.edu	37	20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.D933N|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	989	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)			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)			GCAGCACAGAGATGACCTTGC	0.577																																						ENST00000397527.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2965-2967)Gat>Aat		centrosomal protein 250kDa							58.0	62.0	60.0					20																	34081331		2203	4300	6503	SO:0001583	missense	11190	0	0					g.chr20:34081331G>A	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.2965G>A	chr20.hg19:g.34081331G>A	ENSP00000380661:p.Asp989Asn	0					CEP250_ENST00000342580.4_Missense_Mutation_p.D933N|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	p.D989N	NM_007186.3	NP_009117.2	1	2	3	1.995265	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)	23	3685	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	1	1	hg19	c.2965G>A	CCDS13255.1	1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139066	0.21205	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10668	2.91;2.85	3.76	2.77	0.32553	3.76	2.77	0.32553	.	1.390910	0.05106	N	0.488063	T	0.12944	0.0314	L	0.57536	1.79	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.36720	-0.9736	10	0.17832	T	0.49	.	8.6375	0.33957	0.1154:0.0:0.8846:0.0	.	989	Q9BV73	CP250_HUMAN	N	989;933	ENSP00000380661:D989N;ENSP00000341541:D933N	ENSP00000341541:D933N	D	+	1	0	0	CEP250	33544745	33544745	0.388000	0.25197	0.058000	0.19502	0.391000	0.30476	2.396000	0.44468	1.942000	0.56320	0.174000	0.16983	GAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_007186			130	126		447	438	1		1	1		0	0	107	0		1	9.988351e-01	0	7	0	30	0	130	447
ROMO1	140823	broad.mit.edu	37	20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	NFS1_ENST00000541387.1_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|ROMO1_ENST00000374072.1_3'UTR|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374092.4_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	57	Sufficient for antibacterial activity.				cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502																																						ENST00000374078.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				1						c.(169-171)gGg>gTg		reactive oxygen species modulator 1							141.0	104.0	117.0					20																	34288758		2203	4300	6503	SO:0001583	missense	140823	0	0					g.chr20:34288758G>T	AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"""mitochondrial targeting GXXXG protein"""		"""chromosome 20 open reading frame 52"""	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.170G>T	chr20.hg19:g.34288758G>T	ENSP00000363191:p.Gly57Val	0					NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374092.4_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|NFS1_ENST00000541387.1_5'Flank|ROMO1_ENST00000374072.1_3'UTR	p.G57V	NM_080748.2	NP_542786.1	1	2	3	1.995265	P60602	ROMO1_HUMAN		3	350	+			A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	1	1	hg19	c.170G>T	CCDS13264.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885100	0.91814	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76761	-0.2840	9	0.87932	D	0	.	18.1669	0.89731	0.0:0.0:1.0:0.0	.	57	P60602	ROMO1_HUMAN	V	57	ENSP00000363191:G57V;ENSP00000363190:G57V;ENSP00000380561:G57V;ENSP00000338293:G57V	ENSP00000338293:G57V	G	+	2	0	0	ROMO1	33752172	33752172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.536000	0.85505	0.650000	0.86243	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.320471	1	0.170000	NM_080748			54	54		317	306	1		1	1		0	0	99	0		1	1	0	272	0	672	0	54	317
RBM39	9584	broad.mit.edu	37	20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000253363.6	-	4	262	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000361162.6_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39	80	Arg/Ser-rich (RS domain).				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)			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)					GCGGCTCCGTCGCCTCTCTTT	0.433																																						ENST00000253363.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(238-240)cGa>cAa		RNA binding motif protein 39							184.0	174.0	177.0					20																	34319920		2203	4300	6503	SO:0001583	missense	9584	1	121412	32				g.chr20:34319920C>T	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.239G>A	chr20.hg19:g.34319920C>T	ENSP00000253363:p.Arg80Gln	0					RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000361162.6_Missense_Mutation_p.R80Q	p.R80Q			1	2	3	1.995265	Q14498	RBM39_HUMAN		4	262	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	1	1	hg19	c.239G>A	CCDS13266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.556659|4.556659	0.86231|0.86231	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.42900	.|3.45;3.45;1.0;3.48;3.48;0.96	5.9|5.9	5.9|5.9	0.94986|0.94986	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.099966	.|0.64402	.|D	.|0.000004	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46327	.|0.804;0.804;0.876;0.804;0.804	.|B;B;B;B;B	.|0.39738	.|0.163;0.163;0.308;0.163;0.114	T|T	0.47560|0.47560	-0.9108|-0.9108	5|10	.|0.17832	.|T	.|0.49	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80;80;80;56	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|Q	68|80	.|ENSP00000253363:R80Q;ENSP00000354437:R80Q;ENSP00000436747:R80Q;ENSP00000363150:R80Q;ENSP00000406801:R80Q;ENSP00000393493:R80Q	.|ENSP00000253363:R80Q	D|R	-|-	1|2	0|0	0|0	RBM39|RBM39	33783334|33783334	33783334|33783334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.396000|4.396000	0.59684|0.59684	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAC|CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	1	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000	NM_184237			208	206		865	857	1		1	1		0	0	147	0		1	1	0	181	0	565	0	208	865
EPB41L1	2036	broad.mit.edu	37	20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	415					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)			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)					CCGGCCTGCACCCTTCTTTGA	0.612																																						ENST00000338074.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.991429	0.990000	1.000000																										0				37						c.(1243-1245)Ccc>Tcc		erythrocyte membrane protein band 4.1-like 1							57.0	51.0	53.0					20																	34778662		2203	4300	6503	SO:0001583	missense	2036	0	0					g.chr20:34778662C>T	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.1243C>T	chr20.hg19:g.34778662C>T	ENSP00000337168:p.Pro415Ser	0					EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S	p.P415S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	1	2	3	1.995265	Q9H4G0	E41L1_HUMAN		11	1404	+	Breast(12;0.0239)		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	1	1	hg19	c.1243C>T	CCDS13271.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008744	0.93346	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.18	5.18	0.71444	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.94833	0.8331	M	0.83483	2.645	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;0.998;0.998;0.998;0.988	D	0.95367	0.8461	9	0.87932	D	0	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	415;415;384;318;318;353	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	S	353;318;415;318;353;384;415;415	ENSP00000202028:P353S;ENSP00000363061:P318S;ENSP00000399214:P353S;ENSP00000363057:P384S;ENSP00000337168:P415S;ENSP00000363052:P415S	ENSP00000202028:P353S	P	+	1	0	0	EPB41L1	34242076	34242076	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.776000	0.85560	2.556000	0.86216	0.561000	0.74099	CCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_012156			24	24		195	191	1		1	1		0	0	41	0		9.999997e-01	9.999974e-01	0	25	0	152	0	24	195
EPB41L1	2036	broad.mit.edu	37	20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	463					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)			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)					GAGTCTGGGGGGCAACGGTCA	0.602																																						ENST00000338074.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1387-1389)gGg>gAg		erythrocyte membrane protein band 4.1-like 1							70.0	49.0	56.0					20																	34782221		2203	4300	6503	SO:0001583	missense	2036	0	0					g.chr20:34782221G>A	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.1388G>A	chr20.hg19:g.34782221G>A	ENSP00000337168:p.Gly463Glu	0					EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E	p.G463E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	1	2	3	1.995265	Q9H4G0	E41L1_HUMAN		12	1549	+	Breast(12;0.0239)		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	1	1	hg19	c.1388G>A	CCDS13271.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968982|1.968982	0.34754|0.34754	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.61;-1.67;-1.64;-1.64;-1.64|.	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	1.320840|1.320840	0.04653|0.04653	N|N	0.407417|0.407417	T|T	0.58293|0.58293	0.2112|0.2112	N|N	0.14661|0.14661	0.345|0.345	0.44736|0.44736	D|D	0.997732|0.997732	B;B;B;B;P;B|.	0.37423|.	0.006;0.304;0.022;0.002;0.594;0.001|.	B;B;B;B;B;B|.	0.31614|.	0.004;0.036;0.022;0.005;0.133;0.003|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|7	0.02654|0.46703	T|T	1|0.11	.|.	18.3778|18.3778	0.90441|0.90441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;432;366;366;401|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	E|S	401;366;463;366;401;432;37;463;463|41	ENSP00000202028:G401E;ENSP00000363061:G366E;ENSP00000399214:G401E;ENSP00000363057:G432E;ENSP00000337168:G463E;ENSP00000363052:G463E|.	ENSP00000202028:G401E|ENSP00000406464:G41S	G|G	+|+	2|1	0|0	0|0	EPB41L1|EPB41L1	34245635|34245635	34245635|34245635	0.991000|0.991000	0.36638|0.36638	0.091000|0.091000	0.20842|0.20842	0.909000|0.909000	0.53808|0.53808	5.449000|5.449000	0.66619|0.66619	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGG|GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_012156			39	38		153	152	1		1	1		0	0	29	0		1	1	0	72	0	96	0	39	153
DLGAP4	22839	broad.mit.edu	37	20	35068238	35068238	+	Silent	SNP	C	C	T	rs527846901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373907.2	+	4	1522	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373913.3_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	441					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.S441S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCCGTCAGCGACAGCCTCA	0.632											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373907.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999340	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S441S(1)	endometrium(1)	37						c.(1321-1323)agC>agT		discs, large (Drosophila) homolog-associated protein 4							76.0	60.0	66.0					20																	35068238		2203	4300	6503	SO:0001819	synonymous_variant	22839	0	0					g.chr20:35068238C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1323C>T	chr20.hg19:g.35068238C>T		0		OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	852	DLGAP4_ENST00000373913.3_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S	p.S441S			1	2	3	1.995265	Q9Y2H0	DLGP4_HUMAN		4	1522	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	1	1	hg19	c.1323C>T		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_014902			25	25		158	154	1		1			0	0	37	0		9.999999e-01	0	0	0	0	0	0	25	158
DLGAP4	22839	broad.mit.edu	37	20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000373907.2	+	8	2252	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000401952.2_Intron			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	685					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCAGTCCCGCTACCAAATT	0.542																																						ENST00000373907.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999778	0.990000	1.000000																										0				37						c.(2053-2055)Gct>Act		discs, large (Drosophila) homolog-associated protein 4							76.0	72.0	73.0					20																	35128033		2203	4300	6503	SO:0001583	missense	22839	1	121412	28				g.chr20:35128033G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2053G>A	chr20.hg19:g.35128033G>A	ENSP00000363014:p.Ala685Thr	0					DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR	p.A685T			1	2	3	1.995265	Q9Y2H0	DLGP4_HUMAN		8	2252	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	1	1	hg19	c.2053G>A		1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601401	0.28534	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.17213	2.29;2.29;2.29	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.304616	0.33753	N	0.004589	T	0.07548	0.0190	.	.	.	0.26244	N	0.978822	B	0.06786	0.001	B	0.08055	0.003	T	0.24012	-1.0172	9	0.02654	T	1	.	13.5615	0.61793	0.0:0.1559:0.8441:0.0	.	146	Q9Y2H0-3	.	T	685;685;146	ENSP00000363014:A685T;ENSP00000341633:A685T;ENSP00000345700:A146T	ENSP00000341633:A685T	A	+	1	0	0	DLGAP4	34561447	34561447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.076000	0.41548	2.449000	0.82847	0.650000	0.86243	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-13.044050	1	0.170000	NM_014902			19	19		93	91	1		1	1		0	0	24	0		9.999935e-01	1	0	33	0	160	0	19	93
DLGAP4	22839	broad.mit.edu	37	20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373907.2	+	9	2373	c.2174G>T	c.(2173-2175)aGc>aTc	p.S725I	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S722I|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	725					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATGACTCAAGCTGTAAGTCA	0.612																																						ENST00000373907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2173-2175)aGc>aTc		discs, large (Drosophila) homolog-associated protein 4							99.0	89.0	92.0					20																	35128676		2203	4300	6503	SO:0001583	missense	22839	0	0					g.chr20:35128676G>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2174G>T	chr20.hg19:g.35128676G>T	ENSP00000363014:p.Ser725Ile	0					DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S722I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000475894.1_3'UTR	p.S725I			1	2	3	1.995265	Q9Y2H0	DLGP4_HUMAN		9	2373	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	1	1	hg19	c.2174G>T		1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794305	0.31777	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.215365	0.48286	D	0.000190	T	0.50922	0.1644	M	0.61703	1.905	0.32240	N	0.572839	D;B;D;P	0.57571	0.98;0.027;0.968;0.818	P;B;P;B	0.52031	0.646;0.015;0.688;0.311	T	0.57562	-0.7790	10	0.21014	T	0.42	.	15.9964	0.80250	0.0:0.0:1.0:0.0	.	31;186;725;722	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	I	722;722;725;725;186	ENSP00000363023:S722I;ENSP00000384954:S722I;ENSP00000363014:S725I;ENSP00000341633:S725I;ENSP00000345700:S186I	ENSP00000341633:S725I	S	+	2	0	0	DLGAP4	34562090	34562090	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.939000	0.48995	2.448000	0.82819	0.650000	0.86243	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_014902			67	67		283	279	1		1	1		0	0	73	0		1	1	0	48	0	178	0	67	283
DLGAP4	22839	broad.mit.edu	37	20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373907.2	+	9	2648	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R814W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	817					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAACAGAGCGGCTGGAAGG	0.607																																						ENST00000373907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2449-2451)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 4							45.0	48.0	47.0					20																	35128951		2194	4287	6481	SO:0001583	missense	22839	0	0					g.chr20:35128951C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2449C>T	chr20.hg19:g.35128951C>T	ENSP00000363014:p.Arg817Trp	0					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R814W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000475894.1_3'UTR	p.R817W			1	2	3	1.995265	Q9Y2H0	DLGP4_HUMAN		9	2648	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	1	1	hg19	c.2449C>T		1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288095	0.59976	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.86	2.47	0.30058	5.86	2.47	0.30058	.	0.049608	0.85682	D	0.000000	T	0.70701	0.3254	M	0.92169	3.28	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.998;0.297	D;D;P;B	0.76575	0.961;0.988;0.745;0.092	T	0.79843	-0.1632	10	0.87932	D	0	.	14.8936	0.70627	0.4214:0.5786:0.0:0.0	.	123;278;817;814	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	814;814;817;817;278	ENSP00000363023:R814W;ENSP00000384954:R814W;ENSP00000363014:R817W;ENSP00000341633:R817W;ENSP00000345700:R278W	ENSP00000341633:R817W	R	+	1	2	2	DLGAP4	34562365	34562365	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.053000	0.41326	0.718000	0.32166	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1		2	2	2	0		0	0	95		95	92	1	2.060000	-20.000000	1	0.170000	NM_014902			65	61		354	349	1		1	1		0	0	95	0		1	1	0	34	0	143	0	65	354
DLGAP4	22839	broad.mit.edu	37	20	35154346	35154346	+	Silent	SNP	C	C	T	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373907.2	+	11	2896	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_Silent_p.F896F|DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000340491.4_Silent_p.F360F|DLGAP4_ENST00000401952.2_Silent_p.F896F|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	899					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGAAGTTCGATGAACTCT	0.607																																						ENST00000373907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2695-2697)ttC>ttT		discs, large (Drosophila) homolog-associated protein 4		T	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	99.0	100.0		576,2688,1080	-1.0	1.0	20	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DLGAP4	NM_001042486.2,NM_014902.4,NM_183006.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	192/286,896/990,360/454	35154346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22839	1	121412	36				g.chr20:35154346C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2697C>T	chr20.hg19:g.35154346C>T		0					DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000373913.3_Silent_p.F896F|DLGAP4_ENST00000340491.4_Silent_p.F360F|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR	p.F899F			1	2	3	1.995265	Q9Y2H0	DLGP4_HUMAN		11	2896	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	1	1	hg19	c.2697C>T		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_014902			151	150		480	474	0		1	1		0	0	145	0		1	1	0	44	0	124	0	151	480
MYL9	10398	broad.mit.edu	37	20	35177499	35177499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	122	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592																																						ENST00000279022.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(364-366)caC>caT		myosin, light chain 9, regulatory							76.0	69.0	71.0					20																	35177499		2203	4300	6503	SO:0001819	synonymous_variant	10398	0	0					g.chr20:35177499C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.366C>T	chr20.hg19:g.35177499C>T		0					MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.H122H	NM_006097.4	NP_006088.2	1	2	3	1.995265	P24844	MYL9_HUMAN		4	470	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	1	1	hg19	c.366C>T	CCDS13276.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_006097			41	39		206	204	1		1	1		0	0	59	0		1	1	0	109	0	1410	0	41	206
SAMHD1	25939	broad.mit.edu	37	20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	247	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)			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)				AATTCCATTAGAATTAATAAG	0.383																																						ENST00000262878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(739-741)tCt>tAt		SAM domain and HD domain 1							95.0	89.0	91.0					20																	35547879		2203	4300	6503	SO:0001583	missense	25939	0	0					g.chr20:35547879G>T	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.740C>A	chr20.hg19:g.35547879G>T	ENSP00000262878:p.Ser247Tyr	0					SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	p.S247Y	NM_015474.3	NP_056289.2	1	2	3	1.995265	Q9Y3Z3	SAMH1_HUMAN		7	939	-		Myeloproliferative disorder(115;0.00878)	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	1	1	hg19	c.740C>A	CCDS13288.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941492	0.73557	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90004	-2.6;-2.47	5.82	4.87	0.63330	5.82	4.87	0.63330	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.452484	0.25625	N	0.029390	D	0.91126	0.7206	L	0.53780	1.695	0.41946	D	0.990633	D	0.55800	0.973	P	0.56343	0.796	D	0.91799	0.5450	10	0.72032	D	0.01	-18.0376	14.9983	0.71451	0.0701:0.0:0.9299:0.0	.	247	Q9Y3Z3	SAMH1_HUMAN	Y	247;32	ENSP00000262878:S247Y;ENSP00000362798:S32Y	ENSP00000262878:S247Y	S	-	2	0	0	SAMHD1	34981293	34981293	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	3.740000	0.55082	2.759000	0.94783	0.557000	0.71058	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.499377	1	0.170000	NM_015474			40	39		164	163	1		1	0		0	0	44	0		1	1	0	0	0	184	0	40	164
SAMHD1	25939	broad.mit.edu	37	20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	164	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)			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)				ATGCTCAAATCGATTGTGTGA	0.428																																						ENST00000262878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(490-492)cGa>cAa		SAM domain and HD domain 1							116.0	108.0	110.0					20																	35563450		2203	4300	6503	SO:0001583	missense	25939	0	0					g.chr20:35563450C>T	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.491G>A	chr20.hg19:g.35563450C>T	ENSP00000262878:p.Arg164Gln	0					SAMHD1_ENST00000373694.5_5'UTR	p.R164Q	NM_015474.3	NP_056289.2	1	2	3	1.995265	Q9Y3Z3	SAMH1_HUMAN		4	690	-		Myeloproliferative disorder(115;0.00878)	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	1	1	hg19	c.491G>A	CCDS13288.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.808521	0.96967	.	.	ENSG00000101347	ENST00000262878	D	0.99936	-8.3	6.05	6.05	0.98169	6.05	6.05	0.98169	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	-14.9894	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164	Q9Y3Z3	SAMH1_HUMAN	Q	164	ENSP00000262878:R164Q	ENSP00000262878:R164Q	R	-	2	0	0	SAMHD1	34996864	34996864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_015474			93	91		314	301	1		1	1		0	0	87	0		1	1	0	2	0	305	0	93	314
ATRN	8455	broad.mit.edu	37	20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	936	PSI 3.				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)			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						GTGCCTTGAGGACAGCATGTG	0.547																																						ENST00000262919.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2806-2808)agG>agT		attractin							268.0	229.0	242.0					20																	3564588		2203	4300	6503	SO:0001583	missense	8455	0	0					g.chr20:3564588G>T	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.2808G>T	chr20.hg19:g.3564588G>T	ENSP00000262919:p.Arg936Ser	0					ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	p.R936S	NM_139321.2	NP_647537.1	1	2	3	1.995265	O75882	ATRN_HUMAN		17	2876	+			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	1	1	hg19	c.2808G>T	CCDS13053.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455521	0.63401	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17054	3.24;2.3	5.64	2.66	0.31614	5.64	2.66	0.31614	.	0.047709	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69463	2.115	0.53688	D	0.999976	P;D	0.89917	0.757;1.0	B;D	0.83275	0.155;0.996	T	0.02031	-1.1226	10	0.31617	T	0.26	-17.2408	8.0937	0.30816	0.1629:0.117:0.7201:0.0	.	936;936	O75882;O75882-2	ATRN_HUMAN;.	S	936;936;862	ENSP00000262919:R936S;ENSP00000416587:R936S	ENSP00000262919:R936S	R	+	3	2	2	ATRN	3512588	3512588	0.999000	0.42202	0.978000	0.43139	0.990000	0.78478	0.881000	0.28173	0.331000	0.23511	0.585000	0.79938	AGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	1	0	1		2	2	2	0		0	0	234		234	232	1	2.060000	-20.000000	1	0.170000	NM_139321			183	182		807	786	1		1	1		0	0	234	0		1	1	0	54	0	158	0	183	807
SAMHD1	25939	broad.mit.edu	37	20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5). {ECO:0000269|PubMed:19525956}.		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)			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)				TTGATGTATCGAAGACGTTGA	0.433																																						ENST00000262878.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(433-435)Cga>Tga		SAM domain and HD domain 1							135.0	125.0	129.0					20																	35563508		2203	4300	6503	SO:0001587	stop_gained	25939	2	121412	36				g.chr20:35563508G>A	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.433C>T	chr20.hg19:g.35563508G>A	ENSP00000262878:p.Arg145*	0					SAMHD1_ENST00000373694.5_5'UTR	p.R145*	NM_015474.3	NP_056289.2	1	2	3	1.995265	Q9Y3Z3	SAMH1_HUMAN		4	632	-		Myeloproliferative disorder(115;0.00878)	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	0	1	hg19	c.433C>T	CCDS13288.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.160328	0.98103	.	.	ENSG00000101347	ENST00000262878	.	.	.	6.05	4.04	0.47022	6.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	.	.	.	X	145	.	ENSP00000262878:R145X	R	-	1	2	2	SAMHD1	34996922	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-3.745021	1	0.170000	NM_015474			75	74		282	278	1		1	1		0	0	70	0		1	1	0	2	0	360	0	75	282
RBL1	5933	broad.mit.edu	37	20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	149					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)			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)				TCATATGGATTTTGAAATATA	0.328																																						ENST00000373664.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(445-447)Aat>Cat		retinoblastoma-like 1							66.0	72.0	70.0					20																	35696435		2203	4298	6501	SO:0001583	missense	5933	0	0					g.chr20:35696435T>G	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.445A>C	chr20.hg19:g.35696435T>G	ENSP00000362768:p.Asn149His	0					RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	p.N149H	NM_002895.2	NP_002886.2	1	2	3	1.995265	P28749	RBL1_HUMAN		3	511	-		Myeloproliferative disorder(115;0.00878)	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	1	1	hg19	c.445A>C	CCDS13289.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.19|15.19	2.759401|2.759401	0.49468|0.49468	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|T;T	.|0.73789	.|-0.78;-0.78	5.34|5.34	5.34|5.34	0.76211|0.76211	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.049235	.|0.85682	.|D	.|0.000000	D|D	0.82999|0.82999	0.5159|0.5159	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999982|0.999982	.|D;B	.|0.89917	.|1.0;0.368	.|D;B	.|0.74348	.|0.983;0.275	T|T	0.82133|0.82133	-0.0608|-0.0608	5|10	.|0.37606	.|T	.|0.19	-9.9237|-9.9237	15.4744|15.4744	0.75465|0.75465	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|149;149	.|P28749-2;P28749	.|.;RBL1_HUMAN	N|H	8|149	.|ENSP00000362768:N149H;ENSP00000343646:N149H	.|ENSP00000343646:N149H	K|N	-|-	3|1	2|0	2|0	RBL1|RBL1	35129849|35129849	35129849|35129849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.767000|2.767000	0.47637|0.47637	2.242000|2.242000	0.73789|0.73789	0.482000|0.482000	0.46254|0.46254	AAA|AAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_002895			68	66		350	344	1		1	1		0	0	71	0		1	6.067351e-01	0	2	0	10	0	68	350
ADAM33	80332	broad.mit.edu	37	20	3660157	3660157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	ENST00000356518.2	-	2	400	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_Silent_p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	53					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCTGACGGTGCGCCAGG	0.622																																						ENST00000356518.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				29						c.(157-159)acC>acT		ADAM metallopeptidase domain 33							32.0	30.0	31.0					20																	3660157		2201	4300	6501	SO:0001819	synonymous_variant	80332	2	121194	31				g.chr20:3660157G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.159C>T	chr20.hg19:g.3660157G>A		0					ADAM33_ENST00000379861.4_Silent_p.T53T|ADAM33_ENST00000350009.2_Silent_p.T53T	p.T53T	NM_025220.2	NP_079496.1	1	2	3	1.995265	Q9BZ11	ADA33_HUMAN		2	400	-			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	0	1	hg19	c.159C>T	CCDS13058.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-15.540810	1	0.170000	NM_025220			20	20		72	70	0		1	0		0	0	15	0		9.999976e-01	9.016051e-01	0	0	0	17	0	20	72
SRC	6714	broad.mit.edu	37	20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|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)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GAGTTTGCTGGACTTTCTCAA	0.632																																						ENST00000373578.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(1051-1053)Gac>Aac		SRC proto-oncogene, non-receptor tyrosine kinase	Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)						87.0	78.0	81.0					20																	36030016		2203	4300	6503	SO:0001583	missense	6714	0	0					g.chr20:36030016G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1051G>A	chr20.hg19:g.36030016G>A	ENSP00000362680:p.Asp351Asn	0					SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.D351N	p.D351N	NM_198291.1	NP_938033.1	1	2	3	1.995265	P12931	SRC_HUMAN		11	1400	+		Myeloproliferative disorder(115;0.00878)	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	1	1	hg19	c.1051G>A	CCDS13294.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209156	0.79240	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	4.97	4.97	0.65823	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.21142	0.635	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.06409	-1.0828	10	0.72032	D	0.01	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	351	P12931	SRC_HUMAN	N	351;351;357;351;351;357	ENSP00000408503:D351N;ENSP00000362680:D351N;ENSP00000353950:D357N;ENSP00000350941:D351N;ENSP00000362668:D351N;ENSP00000362659:D357N	ENSP00000350941:D351N	D	+	1	0	0	SRC	35463430	35463430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000	NM_005417			57	57		342	340	1		1	1		0	0	90	0		1	1	0	121	0	188	0	57	342
RPRD1B	58490	broad.mit.edu	37	20	36662454	36662454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K	TTI1_ENST00000373448.2_5'Flank|TTI1_ENST00000373447.3_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	35	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632																																						ENST00000373433.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(103-105)aaG>aaA		regulation of nuclear pre-mRNA domain containing 1B							96.0	88.0	90.0					20																	36662454		2203	4300	6503	SO:0001819	synonymous_variant	58490	0	0					g.chr20:36662454G>A	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.105G>A	chr20.hg19:g.36662454G>A		0					TTI1_ENST00000373447.3_5'Flank|TTI1_ENST00000373448.2_5'Flank	p.K35K	NM_021215.3	NP_067038.1	1	2	3	1.995265	Q9NQG5	RPR1B_HUMAN		1	507	+			Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	1	1	hg19	c.105G>A	CCDS13301.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_021215			99	99		502	493	1		1	1		0	0	117	0		1	9.969035e-01	0	12	0	34	0	99	502
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1669					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.1670_1673del(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						CTTACAAACACGCCTCCTTCT	0.582																																						ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Deletion - In frame(1)	p.1670_1673del(1)	breast(1)	70						c.(5005-5007)cGt>cAt		sialic acid binding Ig-like lectin 1, sialoadhesin							198.0	173.0	181.0					20																	3669866		2203	4300	6503	SO:0001583	missense	6614	2	121412	37				g.chr20:3669866C>T	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.5006G>A	chr20.hg19:g.3669866C>T	ENSP00000341141:p.Arg1669His	0					SIGLEC1_ENST00000202578.4_Intron	p.R1669H	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		20	5005	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.5006G>A	CCDS13060.1	1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202355	0.22121	.	.	ENSG00000088827	ENST00000344754	T	0.24151	1.87	5.38	-3.64	0.04515	5.38	-3.64	0.04515	.	2.282560	0.02156	N	0.058429	T	0.10035	0.0246	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	10	0.33141	T	0.24	.	0.5307	0.00628	0.2761:0.3107:0.195:0.2182	.	1669	Q9BZZ2	SN_HUMAN	H	1669	ENSP00000341141:R1669H	ENSP00000341141:R1669H	R	-	2	0	0	SIGLEC1	3617866	3617866	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.189000	0.03061	-0.904000	0.03876	0.655000	0.94253	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000	NM_023068			123	121		542	528	1		1	0		0	0	149	0		1	9.999742e-01	0	0	0	68	0	123	542
SIGLEC1	6614	broad.mit.edu	37	20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1319	Ig-like C2-type 13.				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)			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						GTAGGCGCCTGCATGAGCCCG	0.657																																						ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				70						c.(3955-3957)gCa>gTa		sialic acid binding Ig-like lectin 1, sialoadhesin							29.0	32.0	31.0					20																	3673242		2202	4300	6502	SO:0001583	missense	6614	2	121358	34				g.chr20:3673242G>A	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.3956C>T	chr20.hg19:g.3673242G>A	ENSP00000341141:p.Ala1319Val	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	p.A1319V	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		15	3955	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.3956C>T	CCDS13060.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594026	0.66219	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15017	2.46;2.46	5.71	3.71	0.42584	5.71	3.71	0.42584	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34652	N	0.003789	T	0.38321	0.1036	M	0.85542	2.76	0.09310	N	1	D;D	0.57257	0.971;0.979	P;P	0.60415	0.874;0.742	T	0.19712	-1.0297	10	0.56958	D	0.05	.	9.3211	0.37964	0.0779:0.0:0.7789:0.1432	.	1319;1319	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1319	ENSP00000341141:A1319V;ENSP00000202578:A1319V	ENSP00000202578:A1319V	A	-	2	0	0	SIGLEC1	3621242	3621242	0.039000	0.19947	0.003000	0.11579	0.904000	0.53231	1.963000	0.40452	1.394000	0.46624	0.655000	0.94253	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-20.000000	1	0.170000	NM_023068			29	29		130	128	0		1	0		0	0	21	0		1	9.996578e-01	0	0	0	60	0	29	130
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				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)			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						GGCAGCCTCCGGAGCCAGGAT	0.657																																						ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3799-3801)cCg>cTg		sialic acid binding Ig-like lectin 1, sialoadhesin		G	LEU/PRO	0,4406		0,0,2203	35.0	35.0	35.0		3800	4.8	0.4	20	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SIGLEC1	NM_023068.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1267/1710	3673398	1,13005	2203	4300	6503	SO:0001583	missense	6614	6	121328	35				g.chr20:3673398G>A	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.3800C>T	chr20.hg19:g.3673398G>A	ENSP00000341141:p.Pro1267Leu	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	p.P1267L	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		15	3799	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.3800C>T	CCDS13060.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199195	0.38806	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14144	2.53;2.53	5.74	4.78	0.61160	5.74	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002482	T	0.44222	0.1283	M	0.92169	3.28	0.27153	N	0.961358	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50767	-0.8789	10	0.29301	T	0.29	.	12.6884	0.56960	0.0:0.1658:0.8342:0.0	.	1267;1267	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1267	ENSP00000341141:P1267L;ENSP00000202578:P1267L	ENSP00000202578:P1267L	P	-	2	0	0	SIGLEC1	3621398	3621398	0.998000	0.40836	0.438000	0.26821	0.042000	0.13812	5.600000	0.67599	1.405000	0.46838	0.561000	0.74099	CCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-4.557803	1	0.170000	NM_023068			76	75		239	236	1		1	0		0	0	47	0		1	9.999915e-01	0	0	0	57	0	76	239
SIGLEC1	6614	broad.mit.edu	37	20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1245	Ig-like C2-type 12.				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)			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						GCCCAGAGGGCTGCGGGCAGA	0.677																																						ENST00000344754.4	1.000000	0.440000	9.000000e-01	5.600000e-01	0.710000	0.726389	0.710000	1.000000																										0				70						c.(3733-3735)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							29.0	31.0	30.0					20																	3673553		2201	4298	6499	SO:0001583	missense	6614	0	0					g.chr20:3673553C>A	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.3734G>T	chr20.hg19:g.3673553C>A	ENSP00000341141:p.Ser1245Ile	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	p.S1245I	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		14	3733	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.3734G>T	CCDS13060.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160567|3.160567	0.57368|0.57368	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.75477	.|-0.94;-0.94	4.98|4.98	1.38|1.38	0.22167|0.22167	4.98|4.98	1.38|1.38	0.22167|0.22167	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.335011	.|0.21929	.|N	.|0.067045	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.67397|0.67397	2.05|2.05	0.31063|0.31063	N|N	0.713953|0.713953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.992	T|T	0.75783|0.75783	-0.3196|-0.3196	5|10	.|0.52906	.|T	.|0.07	.|.	5.6007|5.6007	0.17351|0.17351	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1245;1245	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	58|1245	.|ENSP00000341141:S1245I;ENSP00000202578:S1245I	.|ENSP00000202578:S1245I	Q|S	-|-	3|2	2|0	2|0	SIGLEC1|SIGLEC1	3621553|3621553	3621553|3621553	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.888000|0.888000	0.51559|0.51559	-0.278000|-0.278000	0.08490|0.08490	0.514000|0.514000	0.28300|0.28300	-0.140000|-0.140000	0.14226|0.14226	CAG|AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-19.999260	1	0.170000	NM_023068			20	19		320	312	0		1	0		0	0	46	0		9.999944e-01	5.114915e-01	0	0	0	28	0	20	320
SIGLEC1	6614	broad.mit.edu	37	20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1206	Ig-like C2-type 12.				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)			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						ACCGGCGTGGCTGAGGGCCAG	0.697																																						ENST00000344754.4	1.000000	0.270000	7.100000e-01	3.800000e-01	0.510000	0.549716	0.510000	0.480000																										0				70						c.(3616-3618)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							14.0	18.0	17.0					20																	3673670		2175	4271	6446	SO:0001583	missense	6614	0	0					g.chr20:3673670C>A	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.3617G>T	chr20.hg19:g.3673670C>A	ENSP00000341141:p.Ser1206Ile	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	p.S1206I	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		14	3616	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.3617G>T	CCDS13060.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.958818|1.958818	0.34565|0.34565	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13089	.|2.62;2.62	4.74|4.74	3.8|3.8	0.43715|0.43715	4.74|4.74	3.8|3.8	0.43715|0.43715	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47852	.|D	.|0.000220	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.60904|0.60904	1.88|1.88	0.33759|0.33759	D|D	0.621586|0.621586	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.66716	.|0.946;0.938	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.22706	.|T	.|0.39	.|.	8.684|8.684	0.34225|0.34225	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1206;1206	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	19|1206	.|ENSP00000341141:S1206I;ENSP00000202578:S1206I	.|ENSP00000202578:S1206I	Q|S	-|-	3|2	2|0	2|0	SIGLEC1|SIGLEC1	3621670|3621670	3621670|3621670	0.012000|0.012000	0.17670|0.17670	0.995000|0.995000	0.50966|0.50966	0.619000|0.619000	0.37552|0.37552	0.058000|0.058000	0.14301|0.14301	1.239000|1.239000	0.43787|0.43787	0.655000|0.655000	0.94253|0.94253	CAG|AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0		2	2	2	0		0	0	43		43	40	1	2.060000	-13.018060	1	0.170000	NM_023068			11	11		251	235	0		1	0		0	0	43	0		9.977801e-01	1.986951e-01	0	0	0	18	0	11	251
RPRD1B	58490	broad.mit.edu	37	20	36694492	36694492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36694492C>T	ENST00000373433.4	+	6	1067	c.665C>T	c.(664-666)gCa>gTa	p.A222V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	222					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GACAAAGAGGCAGCTGAACGT	0.438																																						ENST00000373433.4	1.000000	0.210000	4.800000e-01	2.700000e-01	0.360000	0.398620	0.360000	0.350000																										0				12						c.(664-666)gCa>gTa		regulation of nuclear pre-mRNA domain containing 1B							66.0	77.0	73.0					20																	36694492		2203	4300	6503	SO:0001583	missense	58490	0	0					g.chr20:36694492C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.665C>T	chr20.hg19:g.36694492C>T	ENSP00000362532:p.Ala222Val	0						p.A222V	NM_021215.3	NP_067038.1	1	2	3	1.995265	Q9NQG5	RPR1B_HUMAN		6	1067	+			Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	1	1	hg19	c.665C>T	CCDS13301.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.102406	0.94245	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.045472	0.85682	D	0.000000	T	0.53610	0.1807	M	0.65498	2.005	0.80722	D	1	P	0.47302	0.893	B	0.33454	0.164	T	0.59451	-0.7452	9	0.37606	T	0.19	-10.0649	18.891	0.92403	0.0:1.0:0.0:0.0	.	222	Q9NQG5	RPR1B_HUMAN	V	222;104	.	ENSP00000362532:A222V	A	+	2	0	0	RPRD1B	36127906	36127906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.421434	1	0.170000	NM_021215			16	16		522	513	0		1	1		0	0	90	0		9.999248e-01	6.031774e-01	0	2	0	64	0	16	522
SIGLEC1	6614	broad.mit.edu	37	20	3678683	3678683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	628	Ig-like C2-type 6.				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)			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						CGGGGGGGTCGCTGTCCACAC	0.677																																						ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				70						c.(1882-1884)agC>agT		sialic acid binding Ig-like lectin 1, sialoadhesin							17.0	19.0	18.0					20																	3678683		2196	4292	6488	SO:0001819	synonymous_variant	6614	0	0					g.chr20:3678683G>A	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.1884C>T	chr20.hg19:g.3678683G>A		0					SIGLEC1_ENST00000202578.4_Silent_p.S628S	p.S628S	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		8	1883	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	1	1	hg19	c.1884C>T	CCDS13060.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_023068			32	32		142	141	1		1	0		0	0	24	0		1	9.998754e-01	0	0	0	66	0	32	142
SIGLEC1	6614	broad.mit.edu	37	20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	560	Ig-like C2-type 5.				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)			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						GGGAGCAGGAGGCTGCTGCCG	0.672																																						ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				70						c.(1678-1680)Ctc>Atc		sialic acid binding Ig-like lectin 1, sialoadhesin							32.0	25.0	27.0					20																	3679957		2203	4299	6502	SO:0001583	missense	6614	0	0					g.chr20:3679957G>T	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.1678C>A	chr20.hg19:g.3679957G>T	ENSP00000341141:p.Leu560Ile	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	p.L560I	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		7	1677	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	1	hg19	c.1678C>A	CCDS13060.1	1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613571	0.66672	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15139	2.45;2.45	5.46	1.33	0.21861	5.46	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.209012	0.24291	N	0.039819	T	0.42877	0.1222	M	0.89785	3.06	0.27241	N	0.959146	D;D	0.62365	0.991;0.988	D;D	0.72625	0.978;0.962	T	0.29610	-1.0006	10	0.72032	D	0.01	.	7.8901	0.29674	0.3358:0.0:0.6642:0.0	.	560;560	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	560	ENSP00000341141:L560I;ENSP00000202578:L560I	ENSP00000202578:L560I	L	-	1	0	0	SIGLEC1	3627957	3627957	0.749000	0.28305	0.994000	0.49952	0.835000	0.47333	0.571000	0.23669	0.029000	0.15352	-0.136000	0.14681	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_023068			17	17		56	56	1		1	0		0	0	13	0		9.999850e-01	9.996106e-01	0	0	0	49	0	17	56
SIGLEC1	6614	broad.mit.edu	37	20	3682126	3682126	+	Missense_Mutation	SNP	C	C	T	rs34924243	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3682126C>T	ENST00000344754.4	-	6	1390	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		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)			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						ACCACTGAAGCGTGGGCTGTG	0.602													C|||	137	0.0273562	0.0015	0.0375	5008	,	,		21082	0.0129		0.0567	False		,,,				2504	0.0399					ENST00000344754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1390-1392)cGc>cAc		sialic acid binding Ig-like lectin 1, sialoadhesin		C	HIS/ARG	70,4336	63.5+/-100.7	0,70,2133	104.0	79.0	87.0		1391	5.7	1.0	20	dbSNP_126	87	605,7995	158.5+/-212.0	20,565,3715	yes	missense	SIGLEC1	NM_023068.3	29	20,635,5848	TT,TC,CC		7.0349,1.5887,5.1899	probably-damaging	464/1710	3682126	675,12331	2203	4300	6503	SO:0001583	missense	6614	6838	121412	70				g.chr20:3682126C>T	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.1391G>A	chr20.hg19:g.3682126C>T	ENSP00000341141:p.Arg464His	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464H	p.R464H	NM_023068.3	NP_075556.1	1	2	3	1.995265	Q9BZZ2	SN_HUMAN		6	1390	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	1	0	hg19	c.1391G>A	CCDS13060.1	1	72	0.03296703296703297	1	0.0020325203252032522	21	0.058011049723756904	4	0.006993006993006993	46	0.06068601583113457	C	21.0	4.075425	0.76415	0.015887	0.070349	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.79653	-1.29;-1.29	5.69	5.69	0.88448	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	T	0.46814	0.1412	M	0.63843	1.955	0.41958	D	0.990691	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.74303	-0.3709	10	0.59425	D	0.04	.	17.2983	0.87175	0.0:1.0:0.0:0.0	rs34924243	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	464	ENSP00000341141:R464H;ENSP00000202578:R464H	ENSP00000202578:R464H	R	-	2	0	0	SIGLEC1	3630126	3630126	1.000000	0.71417	0.996000	0.52242	0.533000	0.34776	3.228000	0.51270	2.676000	0.91093	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-1.545901	0	0.170000	NM_023068			64	63		285	279	1		1	0		0	0	80	0		1	9.997836e-01	0	0	0	58	0	64	285
TGM2	7052	broad.mit.edu	37	20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536724.1_Missense_Mutation_p.G208S|TGM2_ENST00000536701.1_Missense_Mutation_p.G187S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	268					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)			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)	CGCTGGCAGCCGTGGTTCTTC	0.672																																						ENST00000361475.2	1.000000	0.400000	9.400000e-01	5.400000e-01	0.710000	0.727668	0.710000	1.000000																										0				32						c.(802-804)Ggc>Agc		transglutaminase 2	L-Glutamine(DB00130)						40.0	33.0	35.0					20																	36775176		2202	4297	6499	SO:0001583	missense	7052	4	121380	34				g.chr20:36775176C>T	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.802G>A	chr20.hg19:g.36775176C>T	ENSP00000355330:p.Gly268Ser	0					TGM2_ENST00000536724.1_Missense_Mutation_p.G208S|TGM2_ENST00000536701.1_Missense_Mutation_p.G187S	p.G268S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	1	2	3	1.995265	P21980	TGM2_HUMAN		6	975	-		Myeloproliferative disorder(115;0.00878)	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	1	1	hg19	c.802G>A	CCDS13302.1	0	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400596	0.62177	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.67	1.6	0.23607	5.67	1.6	0.23607	.	0.494953	0.23620	N	0.046259	D	0.89410	0.6707	L	0.49455	1.56	0.23016	N	0.998427	P;D;P;P;P;D	0.67145	0.914;0.996;0.954;0.821;0.93;0.988	B;P;B;B;P;P	0.62298	0.409;0.9;0.325;0.409;0.544;0.847	T	0.80434	-0.1384	10	0.29301	T	0.29	-0.4431	8.4057	0.32614	0.0:0.6299:0.0:0.3701	.	208;187;268;268;208;268	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	S	268;187;208;268	ENSP00000355330:G268S;ENSP00000444701:G187S;ENSP00000437479:G208S;ENSP00000362502:G268S	ENSP00000355330:G268S	G	-	1	0	0	TGM2	36208590	36208590	0.000000	0.05858	0.116000	0.21606	0.788000	0.44548	-0.137000	0.10389	0.070000	0.16634	0.563000	0.77884	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-17.154200	1	0.170000	NM_198951			14	14		225	222	0		1	1		0	0	46	0		9.997599e-01	1	0	84	0	1020	0	14	225
KIAA1755	85449	broad.mit.edu	37	20	36870077	36870077	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	152										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)				CACTGTTGATGGCCTCCAGCC	0.512																																						ENST00000279024.4	1.000000	0.210000	4.800000e-01	2.800000e-01	0.360000	0.403861	0.360000	0.350000																										0				54						c.(454-456)gcC>gcA		KIAA1755							106.0	107.0	107.0					20																	36870077		2203	4300	6503	SO:0001819	synonymous_variant	85449	0	0					g.chr20:36870077G>T	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.456C>A	chr20.hg19:g.36870077G>T		0						p.A152A	NM_001029864.1	NP_001025035.1	1	2	3	1.995265	Q5JYT7	K1755_HUMAN		3	727	-		Myeloproliferative disorder(115;0.00874)	Q9C0A8	Silent	SNP	ENST00000279024.4	1	1	hg19	c.456C>A	CCDS33467.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	0	0	1		2	2	2	0		0	0	111		111	108	1	2.060000	-3.445350	1	0.170000	NM_001029864			16	15		514	503	0		1	0		0	0	111	0		9.999211e-01	2.145208e-01	0	0	0	27	0	16	514
LBP	3929	broad.mit.edu	37	20	36982727	36982727	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36982727A>C	ENST00000217407.2	+	4	573	c.412A>C	c.(412-414)Att>Ctt	p.I138L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	138					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGCATCAGCATTTCGGTCAA	0.562																																						ENST00000217407.2	1.000000	0.110000	3.300000e-01	1.600000e-01	0.230000	0.279633	0.230000	0.220000																										0				28						c.(412-414)Att>Ctt		lipopolysaccharide binding protein							107.0	91.0	97.0					20																	36982727		2203	4300	6503	SO:0001583	missense	3929	0	0					g.chr20:36982727A>C		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.412A>C	chr20.hg19:g.36982727A>C	ENSP00000217407:p.Ile138Leu	0						p.I138L	NM_004139.3	NP_004130.2	1	2	3	1.995265	P18428	LBP_HUMAN		4	573	+		Myeloproliferative disorder(115;0.00878)	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	0	1	hg19	c.412A>C	CCDS13304.1	0	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330310	0.60743	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07444	3.19	4.77	3.67	0.42095	4.77	3.67	0.42095	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.077383	0.53938	D	0.000056	T	0.22282	0.0537	M	0.71581	2.175	0.36181	D	0.849435	D	0.62365	0.991	D	0.67382	0.951	T	0.09292	-1.0681	10	0.72032	D	0.01	-12.4181	7.303	0.26432	0.901:0.0:0.099:0.0	.	138	P18428	LBP_HUMAN	L	138	ENSP00000217407:I138L	ENSP00000217407:I138L	I	+	1	0	0	LBP	36416141	36416141	0.989000	0.36119	0.997000	0.53966	0.602000	0.36980	2.884000	0.48562	0.962000	0.38057	0.459000	0.35465	ATT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-8.714460	1	0.170000	NM_004139			10	10		516	506	0		1			0	0	89	0		9.966194e-01	0	0	0	0	0	0	10	516
TRIB3	57761	broad.mit.edu	37	20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CAGCCTGGTGCGAAGCCGCCA	0.657																																					Melanoma(101;421 2374 19538)	ENST00000217233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(445-447)Cga>Tga		tribbles pseudokinase 3							54.0	40.0	44.0					20																	372084		2203	4300	6503	SO:0001587	stop_gained	57761	9	121400	43				g.chr20:372084C>T	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.445C>T	chr20.hg19:g.372084C>T	ENSP00000217233:p.Arg149*	0					TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	p.R149*	NM_021158.3	NP_066981.2	1	2	3	1.995265	Q96RU7	TRIB3_HUMAN		3	998	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Nonsense_Mutation	SNP	ENST00000217233.3	0	1	hg19	c.445C>T	CCDS12997.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.925983	0.97940	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	5.15	4.14	0.48551	5.15	4.14	0.48551	.	0.000000	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-37.2272	12.6573	0.56793	0.1748:0.8252:0.0:0.0	.	.	.	.	X	149;149;176	.	ENSP00000217233:R149X	R	+	1	2	2	TRIB3	320084	320084	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.962000	0.40442	2.667000	0.90743	0.561000	0.74099	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_021158			50	50		193	190	1		1	1		0	0	29	0		1	9.999991e-01	0	26	0	59	0	50	193
HSPA12B	116835	broad.mit.edu	37	20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	431							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682																																						ENST00000254963.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				14						c.(1291-1293)cGc>cAc		heat shock 70kD protein 12B							14.0	16.0	15.0					20																	3730865		2195	4296	6491	SO:0001583	missense	116835	0	0					g.chr20:3730865G>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1292G>A	chr20.hg19:g.3730865G>A	ENSP00000254963:p.Arg431His	0					HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	p.R431H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	1	2	3	1.995265	Q96MM6	HS12B_HUMAN		11	1437	+			D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	1	1	hg19	c.1292G>A	CCDS13061.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012551	0.93346	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47528	1.42;0.84;0.84	5.66	4.71	0.59529	5.66	4.71	0.59529	.	0.168975	0.47093	N	0.000248	T	0.65386	0.2686	M	0.72479	2.2	0.53688	D	0.999979	D;D	0.89917	0.996;1.0	D;D	0.72982	0.921;0.979	T	0.67106	-0.5754	10	0.51188	T	0.08	-3.7254	12.2752	0.54730	0.0826:0.0:0.9174:0.0	.	430;431	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	431;265;345	ENSP00000254963:R431H;ENSP00000441506:R265H;ENSP00000382608:R345H	ENSP00000254963:R431H	R	+	2	0	0	HSPA12B	3678865	3678865	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.137000	0.50562	1.374000	0.46228	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_052970			23	22		79	79	1		1	0		0	0	12	0		9.999998e-01	7.869116e-01	0	0	0	12	0	23	79
C20orf27	54976	broad.mit.edu	37	20	3735096	3735096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607																																						ENST00000379772.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(370-372)tgC>tgT		chromosome 20 open reading frame 27							128.0	105.0	113.0					20																	3735096		2203	4300	6503	SO:0001819	synonymous_variant	54976	1	121412	29				g.chr20:3735096G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.372C>T	chr20.hg19:g.3735096G>A		0					C20orf27_ENST00000217195.8_Silent_p.C149C	p.C124C	NM_001258429.1	NP_001245358.1	1	2	3	1.995265	Q9GZN8	CT027_HUMAN		5	1182	-			A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Silent	SNP	ENST00000379772.3	1	1	hg19	c.372C>T	CCDS58763.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	1	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-3.148223	1	0.170000	NM_001039140			98	96		501	494	1		1	1		0	0	110	0		1	1	0	40	0	96	0	98	501
RALGAPB	57148	broad.mit.edu	37	20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	571					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)			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						CTCCTTTGTTCTGCTGTGACT	0.378																																						ENST00000262879.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1711-1713)ttC>ttA		Ral GTPase activating protein, beta subunit (non-catalytic)							298.0	273.0	281.0					20																	37153514		2203	4300	6503	SO:0001583	missense	57148	0	0					g.chr20:37153514C>A	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.1713C>A	chr20.hg19:g.37153514C>A	ENSP00000262879:p.Phe571Leu	0					RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L	p.F571L			1	2	3	1.995265	Q86X10	RLGPB_HUMAN		11	1997	+			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	1	1	hg19	c.1713C>A	CCDS13305.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970627	0.92919	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	L	0.39514	1.22	0.80722	D	1	D;P;P;P	0.67145	0.996;0.954;0.954;0.954	D;D;D;D	0.73380	0.98;0.943;0.943;0.943	T	0.67956	-0.5536	10	0.29301	T	0.29	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	399;571;571;571	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	571;571;571;349;571;399	ENSP00000262879:F571L;ENSP00000380233:F571L	ENSP00000262879:F571L	F	+	3	2	2	RALGAPB	36586928	36586928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.587000	0.87381	0.561000	0.74099	TTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000	NM_020336			167	166		782	764	1		1	1		0	0	155	0		1	9.997714e-01	0	15	0	43	0	167	782
ACTR5	79913	broad.mit.edu	37	20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	426					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAGAAGCCGGTCACCACT	0.473																																						ENST00000243903.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1276-1278)cCg>cTg		ARP5 actin-related protein 5 homolog (yeast)							131.0	134.0	133.0					20																	37394145		2203	4300	6503	SO:0001583	missense	79913	3	121412	36				g.chr20:37394145C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1277C>T	chr20.hg19:g.37394145C>T	ENSP00000243903:p.Pro426Leu	0						p.P426L	NM_024855.3	NP_079131.3	1	2	3	1.995265	Q9H9F9	ARP5_HUMAN		6	1314	+		Myeloproliferative disorder(115;0.00878)	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	1	1	hg19	c.1277C>T	CCDS13308.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087033	0.76642	.	.	ENSG00000101442	ENST00000243903	D	0.96265	-3.96	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.216243	0.47852	D	0.000202	D	0.97368	0.9139	M	0.71871	2.18	0.58432	D	0.999998	D	0.76494	0.999	P	0.59595	0.86	D	0.97583	1.0112	10	0.56958	D	0.05	-15.2555	17.1119	0.86678	0.0:1.0:0.0:0.0	.	426	Q9H9F9	ARP5_HUMAN	L	426	ENSP00000243903:P426L	ENSP00000243903:P426L	P	+	2	0	0	ACTR5	36827559	36827559	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	3.616000	0.54174	2.553000	0.86117	0.455000	0.32223	CCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_024855			99	99		578	569	1		1	1		0	0	124	0		1	9.997370e-01	0	22	0	49	0	99	578
PPP1R16B	26051	broad.mit.edu	37	20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACAACTTTGAGGAAATTGTGA	0.607																																						ENST00000299824.1	1.000000	0.770000	1	9.700000e-01	0.990000	0.979636	0.990000	1.000000																										0				49						c.(340-342)gaG>gaT		protein phosphatase 1, regulatory subunit 16B							120.0	99.0	106.0					20																	37524228		2203	4300	6503	SO:0001583	missense	26051	0	0					g.chr20:37524228G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.342G>T	chr20.hg19:g.37524228G>T	ENSP00000299824:p.Glu114Asp	0					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D|PPP1R16B_ENST00000468265.1_3'UTR	p.E114D	NM_015568.2	NP_056383.1	1	2	3	1.995265	Q96T49	PP16B_HUMAN		4	531	+		Myeloproliferative disorder(115;0.00878)	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	1	1	hg19	c.342G>T	CCDS13309.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.02|17.02	3.281561|3.281561	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64438|.	-0.1;-0.1|.	3.85|3.85	1.84|1.84	0.25277|0.25277	3.85|3.85	1.84|1.84	0.25277|0.25277	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13371|0.13371	0.34|0.34	0.45979|0.45979	D|D	0.998798|0.998798	P;P|.	0.37548|.	0.599;0.599|.	P;B|.	0.48334|.	0.574;0.444|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.14656|.	T|.	0.56|.	.|.	8.8866|8.8866	0.35406|0.35406	0.2651:0.0:0.7349:0.0|0.2651:0.0:0.7349:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	D|M	114|57	ENSP00000299824:E114D;ENSP00000362428:E114D|.	ENSP00000299824:E114D|.	E|R	+|+	3|2	2|0	2|0	PPP1R16B|PPP1R16B	36957642|36957642	36957642|36957642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.265000|1.265000	0.33027|0.33027	0.400000|0.400000	0.25396|0.25396	-0.161000|-0.161000	0.13427|0.13427	GAG|AGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.318833	1	0.170000	NM_015568			21	21		186	181	0		1	0		0	0	39	0		9.999977e-01	4.012748e-01	0	0	0	13	0	21	186
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607																																						ENST00000299824.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1321-1323)aaC>aaT		protein phosphatase 1, regulatory subunit 16B							156.0	149.0	151.0					20																	37546928		2203	4300	6503	SO:0001819	synonymous_variant	26051	0	0					g.chr20:37546928C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1323C>T	chr20.hg19:g.37546928C>T		0					PPP1R16B_ENST00000373331.2_Silent_p.N399N	p.N441N	NM_015568.2	NP_056383.1	1	2	3	1.995265	Q96T49	PP16B_HUMAN		11	1512	+		Myeloproliferative disorder(115;0.00878)	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	1	1	hg19	c.1323C>T	CCDS13309.1	1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553955	0.13374	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-2.26	0.06867	5.3	-2.26	0.06867	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61471	-0.7056	4	.	.	.	.	12.7867	0.57510	0.0:0.5801:0.0:0.4199	.	.	.	.	M	342	.	.	T	+	2	0	0	PPP1R16B	36980342	36980342	0.131000	0.22433	0.990000	0.47175	0.795000	0.44927	-0.901000	0.04093	-0.251000	0.09542	-0.940000	0.02684	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	1	0	0		2	2	2	0		0	0	213		213	210	1	2.060000	-20.000000	1	0.170000	NM_015568			166	164		829	820	0		1	0		0	0	213	0		1	4.590115e-01	0	0	0	9	0	166	829
RBCK1	10616	broad.mit.edu	37	20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000356286.5	+	2	730	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	9	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577																																						ENST00000356286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(25-27)Gag>Tag		RanBP-type and C3HC4-type zinc finger containing 1							119.0	131.0	127.0					20																	390527		2203	4300	6503	SO:0001587	stop_gained	10616	0	0					g.chr20:390527G>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.25G>T	chr20.hg19:g.390527G>T	ENSP00000348632:p.Glu9*	0					RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400247.3_Intron	p.E9*	NM_031229.2	NP_112506.2	1	2	3	1.995265	Q9BYM8	HOIL1_HUMAN		2	730	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	0	1	hg19	c.25G>T	CCDS13000.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030241|3.030241	0.54790|0.54790	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000441733|ENST00000411647;ENST00000356286;ENST00000475269;ENST00000400244;ENST00000400243	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.094910	.|0.38897	.|U	.|0.001527	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|-11.2532	15.14|15.14	0.72604|0.72604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|9	.|.	.|ENSP00000348632:E9X	.|E	+|+	.|1	.|0	.|0	RBCK1|RBCK1	338527|338527	338527|338527	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.771000|0.771000	0.43674|0.43674	6.944000|6.944000	0.75940|0.75940	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	.|GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1		2	2	2	0		0	0	234		234	228	1	2.060000	-3.225229	1	0.170000	NM_031229			204	202		982	967	1		1	1		0	0	234	0		1	1	0	90	0	279	0	204	982
CENPB	1059	broad.mit.edu	37	20	3765499	3765499	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3765499A>G	ENST00000379751.4	-	1	1838	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	544	Homodimerization.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TGGCCTCCCCAAAGCTGGGTA	0.527																																						ENST00000379751.4	1.000000	0.200000	6.700000e-01	3.100000e-01	0.460000	0.497648	0.460000	0.410000																										0				8						c.(1630-1632)ttT>ttC		centromere protein B, 80kDa							200.0	150.0	167.0					20																	3765499		2203	4300	6503	SO:0001819	synonymous_variant	1059	0	0					g.chr20:3765499A>G	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1632T>C	chr20.hg19:g.3765499A>G		0					CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	p.F544F	NM_001810.5	NP_001801.1	1	2	3	1.995265	P07199	CENPB_HUMAN		1	1838	-			Q96EI4	Silent	SNP	ENST00000379751.4	1	1	hg19	c.1632T>C	CCDS13064.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-9.643304	1	0.170000	NM_001810			7	7		186	183	0		1	1		0	0	44	0		9.801031e-01	9.991486e-01	0	32	0	358	0	7	186
CENPB	1059	broad.mit.edu	37	20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	118	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731																																						ENST00000379751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(352-354)Gcc>Acc		centromere protein B, 80kDa							34.0	40.0	38.0					20																	3766779		2202	4296	6498	SO:0001583	missense	1059	0	0					g.chr20:3766779C>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.352G>A	chr20.hg19:g.3766779C>T	ENSP00000369075:p.Ala118Thr	0					CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	p.A118T	NM_001810.5	NP_001801.1	1	2	3	1.995265	P07199	CENPB_HUMAN		1	558	-			Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	1	1	hg19	c.352G>A	CCDS13064.1	1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.902606	0.72754	.	.	ENSG00000125817	ENST00000379751	T	0.27104	1.69	3.34	2.36	0.29203	3.34	2.36	0.29203	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.249803	0.20833	U	0.084857	T	0.50701	0.1631	M	0.85945	2.785	0.33894	D	0.637715	D	0.89917	1.0	D	0.78314	0.991	T	0.63242	-0.6681	10	0.49607	T	0.09	-8.036	10.2481	0.43354	0.0:0.7966:0.2034:0.0	.	118	P07199	CENPB_HUMAN	T	118	ENSP00000369075:A118T	ENSP00000369075:A118T	A	-	1	0	0	CENPB	3714779	3714779	0.992000	0.36948	0.988000	0.46212	0.771000	0.43674	1.268000	0.33062	0.367000	0.24454	0.197000	0.17608	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.343711	1	0.170000	NM_001810			87	86		364	360	0		1	1		0	0	61	0		1	1	0	31	0	104	0	87	364
CDC25B	994	broad.mit.edu	37	20	3785572	3785572	+	Silent	SNP	C	C	T	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000439880.2_Silent_p.S555S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	569					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGGAGCGGAGCCGGCGGGAGC	0.647																																						ENST00000245960.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(1705-1707)agC>agT		cell division cycle 25B							43.0	46.0	45.0					20																	3785572		2203	4300	6503	SO:0001819	synonymous_variant	994	0	0					g.chr20:3785572C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1707C>T	chr20.hg19:g.3785572C>T		0					CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000467519.1_3'UTR	p.S569S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	1	2	3	1.995265	P30305	MPIP2_HUMAN		16	2404	+			D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	1	1	hg19	c.1707C>T	CCDS13067.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_021874			65	62		396	389	1		1	1		0	0	68	0		1	9.999996e-01	0	43	0	87	0	65	396
MAVS	57506	broad.mit.edu	37	20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	99					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)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607																																						ENST00000428216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(295-297)aCc>aTc		mitochondrial antiviral signaling protein							73.0	67.0	69.0					20																	3841982		2203	4300	6503	SO:0001583	missense	57506	0	0					g.chr20:3841982C>T	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.296C>T	chr20.hg19:g.3841982C>T	ENSP00000401980:p.Thr99Ile	0					MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	p.T99I	NM_020746.4	NP_065797.2	1	2	3	1.995265	Q7Z434	MAVS_HUMAN		4	424	+			A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	1	1	hg19	c.296C>T	CCDS33437.1	1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996648	0.19043	.	.	ENSG00000088888	ENST00000428216	T	0.12984	2.63	3.55	-7.11	0.01542	3.55	-7.11	0.01542	.	2.099370	0.02440	N	0.084452	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	0.999999	B	0.34241	0.444	B	0.32090	0.14	T	0.06826	-1.0805	10	0.48119	T	0.1	6.6292	2.2226	0.03976	0.515:0.1266:0.1899:0.1685	.	99	Q7Z434	MAVS_HUMAN	I	99	ENSP00000401980:T99I	ENSP00000401980:T99I	T	+	2	0	0	MAVS	3789982	3789982	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.457000	0.01001	-2.885000	0.00317	0.591000	0.81541	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_020746			75	71		407	391	1		1	1		0	0	79	0		1	9.971777e-01	0	14	0	36	0	75	407
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Silent	SNP	G	G	A	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000428216.2	+	5	617	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000358134.6_Missense_Mutation_p.A106T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	163					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)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587																																						ENST00000428216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(487-489)acG>acA		mitochondrial antiviral signaling protein							49.0	51.0	50.0					20																	3842924		2203	4300	6503	SO:0001819	synonymous_variant	57506	1	121412	32				g.chr20:3842924G>A	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.489G>A	chr20.hg19:g.3842924G>A		0					MAVS_ENST00000358134.6_Missense_Mutation_p.A106T|MAVS_ENST00000416600.2_Silent_p.T22T	p.T163T	NM_020746.4	NP_065797.2	1	2	3	1.995265	Q7Z434	MAVS_HUMAN		5	617	+			A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	1	1	hg19	c.489G>A	CCDS33437.1	1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883678	0.17467	.	.	ENSG00000088888	ENST00000358134	T	0.11495	2.77	3.56	-3.22	0.05125	3.56	-3.22	0.05125	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	8	0.17369	T	0.5	-0.588	4.4783	0.11755	0.3447:0.3412:0.3141:0.0	.	106	B2BD34	.	T	106	ENSP00000350852:A106T	ENSP00000350852:A106T	A	+	1	0	0	MAVS	3790924	3790924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-0.708000	0.05015	-1.004000	0.02495	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.579753	1	0.170000	NM_020746			53	51		218	212	1		1	1		0	0	59	0		1	9.999891e-01	0	17	0	56	0	53	218
PANK2	80025	broad.mit.edu	37	20	3869814	3869814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	PANK2_ENST00000610179.1_5'Flank|PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	23					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCTGGGCTACACCGCCT	0.672																																						ENST00000316562.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.995729	0.990000	1.000000																										0				15						c.(67-69)Cta>Tta		pantothenate kinase 2							26.0	20.0	22.0					20																	3869814		2197	4298	6495	SO:0001819	synonymous_variant	80025	0	0					g.chr20:3869814C>T	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.67C>T	chr20.hg19:g.3869814C>T		0					PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank	p.L23L	NM_153638.2	NP_705902.2	1	2	3	1.995265	Q9BZ23	PANK2_HUMAN		1	73	+			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	0	1	hg19	c.67C>T	CCDS13071.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-18.605150	1	0.170000	NM_024960			10	10		52	52	0		1	0		0	0	10	0		9.976812e-01	8.269231e-02	0	0	0	3	0	10	52
RNF24	11237	broad.mit.edu	37	20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	104						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542																																						ENST00000336095.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(310-312)tGc>tAc		ring finger protein 24							61.0	56.0	58.0					20																	3914846		2203	4300	6503	SO:0001583	missense	11237	0	0					g.chr20:3914846C>T	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.311G>A	chr20.hg19:g.3914846C>T	ENSP00000336753:p.Cys104Tyr	0					RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y	p.C104Y	NM_007219.3	NP_009150.1	1	2	3	1.995265	Q9Y225	RNF24_HUMAN		6	562	-			D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	1	1	hg19	c.311G>A	CCDS13074.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500288	0.85176	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.79	5.79	0.91817	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.99	D	0.96787	0.9579	10	0.87932	D	0	-10.1893	17.5288	0.87808	0.0:1.0:0.0:0.0	.	125;104	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	104;104;125;125	ENSP00000336753:C104Y;ENSP00000351166:C104Y;ENSP00000444711:C125Y;ENSP00000388550:C125Y	ENSP00000336753:C104Y	C	-	2	0	0	RNF24	3862846	3862846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.735000	0.93741	0.591000	0.81541	TGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				58	58		266	258	0		1	1		0	0	69	0		1	9.943650e-01	0	7	0	32	0	58	266
FAM83D	81610	broad.mit.edu	37	20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	455	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473																																						ENST00000217429.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1453-1455)gGa>gAa		family with sequence similarity 83, member D							116.0	113.0	114.0					20																	37580769		2015	4177	6192	SO:0001583	missense	81610	0	0					g.chr20:37580769G>A	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.1454G>A	chr20.hg19:g.37580769G>A	ENSP00000217429:p.Gly485Glu	0						p.G485E	NM_030919.2	NP_112181.2	1	2	3	1.995265	Q9H4H8	FA83D_HUMAN		4	1495	+		Myeloproliferative disorder(115;0.00878)	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	1	1	hg19	c.1454G>A	CCDS42872.1	1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451330	0.43531	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000027	T	0.28566	0.0707	M	0.72118	2.19	0.33666	D	0.610281	D	0.63880	0.993	P	0.58520	0.84	T	0.35968	-0.9767	10	0.42905	T	0.14	.	9.6484	0.39881	0.0762:0.1437:0.7801:0.0	.	455	Q9H4H8	FA83D_HUMAN	E	485;439	ENSP00000217429:G485E	ENSP00000217429:G485E	G	+	2	0	0	FAM83D	37014183	37014183	0.955000	0.32602	0.984000	0.44739	0.126000	0.20510	1.720000	0.38022	2.733000	0.93635	0.655000	0.94253	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1	1	0	1		17	2	2	0		0	1	103		103	102	1	2.060000	-20.000000	1	0.170000				86	85		424	410	1		1	1		0	0	103	0		1	9.983080e-01	0	12	0	37	0	86	424
PLCG1	5335	broad.mit.edu	37	20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373271.1	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1189					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)			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)				AGGATACAGAGCAGTGCCTTT	0.587																																						ENST00000373271.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(3565-3567)Gca>Aca		phospholipase C, gamma 1							77.0	81.0	79.0					20																	39802571		2203	4300	6503	SO:0001583	missense	5335	0	0					g.chr20:39802571G>A	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.3565G>A	chr20.hg19:g.39802571G>A	ENSP00000362368:p.Ala1189Thr	0					PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T	p.A1189T	NM_182811.1	NP_877963.1	1	2	3	1.995265	P19174	PLCG1_HUMAN		30	3970	+		Myeloproliferative disorder(115;0.00878)	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	1	1	hg19	c.3565G>A	CCDS13314.1	1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372330	0.42003	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.51	5.51	0.81932	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.180410	0.49305	D	0.000154	T	0.14141	0.0342	L	0.40543	1.245	0.43088	D	0.994754	B;B;B	0.15930	0.013;0.015;0.007	B;B;B	0.16289	0.015;0.011;0.007	T	0.02333	-1.1175	10	0.54805	T	0.06	.	14.7289	0.69365	0.0:0.0:0.8545:0.1455	.	1189;1189;1189	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	T	1189	ENSP00000244007:A1189T;ENSP00000362368:A1189T;ENSP00000362369:A1189T	ENSP00000244007:A1189T	A	+	1	0	0	PLCG1	39235985	39235985	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	1.859000	0.39418	2.593000	0.87608	0.455000	0.32223	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_182811			101	100		425	421	1		1	1		0	0	118	0		1	1	0	11	0	105	0	101	425
ZHX3	23051	broad.mit.edu	37	20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					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.T672S(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)				AGCCTTCTTGGTCTCCTCAGC	0.507																																						ENST00000309060.3	1.000000	0.870000	1	9.700000e-01	0.990000	0.987831	0.990000	1.000000																										1	Substitution - Missense(1)	p.T672S(1)	kidney(1)	31						c.(2014-2016)aCc>aTc		zinc fingers and homeoboxes 3							142.0	143.0	143.0					20																	39831542		2203	4300	6503	SO:0001583	missense	23051	0	0					g.chr20:39831542G>A	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.2015C>T	chr20.hg19:g.39831542G>A	ENSP00000312222:p.Thr672Ile	0					ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron	p.T672I			1	2	3	1.995265	Q9H4I2	ZHX3_HUMAN		4	2430	-		Myeloproliferative disorder(115;0.00425)	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	1	1	hg19	c.2015C>T	CCDS13315.1	1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531051	0.13127	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12361	2.9;2.9;2.69	6.06	2.72	0.32119	6.06	2.72	0.32119	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.475365	0.24182	N	0.040793	T	0.08802	0.0218	L	0.36672	1.1	0.19945	N	0.999941	B;B;P	0.36753	0.242;0.242;0.568	B;B;B	0.35655	0.065;0.071;0.207	T	0.19289	-1.0310	10	0.36615	T	0.2	-7.5284	2.984	0.05962	0.0838:0.2223:0.3897:0.3042	.	672;672;672	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	I	672;672;672;672;450	ENSP00000362360:T672I;ENSP00000442290:T672I;ENSP00000443783:T672I	ENSP00000312222:T672I	T	-	2	0	0	ZHX3	39264956	39264956	1.000000	0.71417	0.394000	0.26270	0.714000	0.41099	2.894000	0.48640	0.832000	0.34804	0.650000	0.86243	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	1	0	1		2	2	2	0		0	0	196		196	196	1	2.060000	-19.999920	1	0.170000	NM_015035			95	94		949	918	1		1	1		0	0	196	0		1	9.665975e-01	0	6	0	50	0	95	949
RBCK1	10616	broad.mit.edu	37	20	400247	400247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W|RBCK1_ENST00000382181.2_Silent_p.R93R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	210	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721																																						ENST00000356286.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				5						c.(628-630)Cgg>Tgg		RanBP-type and C3HC4-type zinc finger containing 1							18.0	18.0	18.0					20																	400247		2196	4292	6488	SO:0001583	missense	10616	1	120726	27				g.chr20:400247C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.628C>T	chr20.hg19:g.400247C>T	ENSP00000348632:p.Arg210Trp	0					RBCK1_ENST00000382181.2_Silent_p.R93R|RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W	p.R210W	NM_031229.2	NP_112506.2	1	2	3	1.995265	Q9BYM8	HOIL1_HUMAN		6	1333	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	1	1	hg19	c.628C>T	CCDS13000.2	1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485723	0.63962	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T;T	0.45276	0.9;0.9	4.73	-1.35	0.09114	4.73	-1.35	0.09114	Zinc finger, RanBP2-type (3);	0.131807	0.50627	D	0.000105	T	0.46405	0.1391	M	0.72353	2.195	0.80722	D	1	D;P;B	0.56035	0.974;0.812;0.322	P;B;B	0.47015	0.534;0.19;0.037	T	0.58451	-0.7634	10	0.87932	D	0	-17.207	15.1642	0.72807	0.7534:0.2466:0.0:0.0	.	200;168;210	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	W	210;168;210;251	ENSP00000348632:R210W;ENSP00000254960:R168W	ENSP00000254960:R168W	R	+	1	2	2	RBCK1	348247	348247	0.162000	0.22906	0.350000	0.25708	0.966000	0.64601	0.739000	0.26173	-0.431000	0.07307	-0.521000	0.04368	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_031229			20	20		55	53	1		1	0		0	0	12	0		9.999980e-01	9.100143e-01	0	1	0	13	0	20	55
ZHX3	23051	broad.mit.edu	37	20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	53	Required for nuclear localization.				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)			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)				GGGTTCTGTGCTGCCTCACTG	0.547																																						ENST00000309060.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(157-159)Gca>Tca		zinc fingers and homeoboxes 3							105.0	102.0	103.0					20																	39833400		2203	4300	6503	SO:0001583	missense	23051	0	0					g.chr20:39833400C>A	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.157G>T	chr20.hg19:g.39833400C>A	ENSP00000312222:p.Ala53Ser	0					ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S	p.A53S			1	2	3	1.995265	Q9H4I2	ZHX3_HUMAN		4	572	-		Myeloproliferative disorder(115;0.00425)	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	1	1	hg19	c.157G>T	CCDS13315.1	1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329175	0.24167	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740;ENST00000373261;ENST00000436440	T;T;T;T;T	0.30182	1.54;2.97;2.97;2.75;1.54	5.61	2.6	0.31112	5.61	2.6	0.31112	.	1.295780	0.04841	N	0.440561	T	0.21841	0.0526	N	0.25426	0.745	0.09310	N	1	B;B;B;P	0.38827	0.001;0.002;0.037;0.649	B;B;B;B	0.38428	0.007;0.007;0.02;0.273	T	0.07888	-1.0749	10	0.02654	T	1	-5.3323	10.506	0.44834	0.0:0.7867:0.0:0.2133	.	53;53;53;53	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	S	53	ENSP00000312222:A53S;ENSP00000362360:A53S;ENSP00000442290:A53S;ENSP00000443783:A53S;ENSP00000415498:A53S	ENSP00000312222:A53S	A	-	1	0	0	ZHX3	39266814	39266814	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	0.353000	0.20130	0.309000	0.22966	-0.140000	0.14226	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	1	0	1		21	2	2	0		0	1	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_015035			96	94		459	455	1		1	1		0	0	85	0		1	9.879418e-01	0	5	0	30	0	96	459
CHD6	84181	broad.mit.edu	37	20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2552					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)			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)				TGATAGAGACGCCGGAGCAGT	0.547																																						ENST00000373233.3	1.000000	0.200000	4.300000e-01	2.600000e-01	0.330000	0.371695	0.330000	0.330000																										0				129						c.(7654-7656)gCg>gTg		chromodomain helicase DNA binding protein 6							110.0	108.0	109.0					20																	40033726		2203	4300	6503	SO:0001583	missense	84181	2	121412	35				g.chr20:40033726G>A	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.7655C>T	chr20.hg19:g.40033726G>A	ENSP00000362330:p.Ala2552Val	0					CHD6_ENST00000480022.1_5'UTR	p.A2552V	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		37	7832	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	1	1	hg19	c.7655C>T	CCDS13317.1	0	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222351	0.58560	.	.	ENSG00000124177	ENST00000373233	D	0.86956	-2.19	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.209857	0.33834	N	0.004520	T	0.80949	0.4722	L	0.52573	1.65	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.80736	-0.1249	10	0.33141	T	0.24	-9.0735	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	2552	Q8TD26	CHD6_HUMAN	V	2552	ENSP00000362330:A2552V	ENSP00000362330:A2552V	A	-	2	0	0	CHD6	39467140	39467140	0.993000	0.37304	0.887000	0.34795	0.882000	0.50991	4.988000	0.63863	2.894000	0.99253	0.591000	0.81541	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-3.036188	1	0.170000				20	20		702	689	0		1	0		0	0	126	0		9.999942e-01	3.224300e-01	0	1	0	39	0	20	702
CHD6	84181	broad.mit.edu	37	20	40045244	40045244	+	Missense_Mutation	SNP	G	G	A	rs552643669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40045244G>A	ENST00000373233.3	-	33	6647	c.6470C>T	c.(6469-6471)gCg>gTg	p.A2157V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					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)			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)				GATCTGGGCCGCCAATGCTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17758	0.0		0.0	False		,,,				2504	0.001					ENST00000373233.3	1.000000	0.260000	5.500000e-01	3.400000e-01	0.430000	0.464508	0.430000	0.410000																										0				129						c.(6469-6471)gCg>gTg		chromodomain helicase DNA binding protein 6							97.0	86.0	90.0					20																	40045244		2203	4300	6503	SO:0001583	missense	84181	8	121412	41				g.chr20:40045244G>A	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.6470C>T	chr20.hg19:g.40045244G>A	ENSP00000362330:p.Ala2157Val	0					CHD6_ENST00000480022.1_5'Flank	p.A2157V	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		33	6647	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	1	1	hg19	c.6470C>T	CCDS13317.1	0	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309776	0.05458	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.46	2.2	0.27929	5.46	2.2	0.27929	.	0.217621	0.32231	N	0.006392	T	0.49695	0.1572	N	0.00197	-1.87	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.52426	-0.8577	10	0.13853	T	0.58	-7.7668	7.6075	0.28110	0.5998:0.0:0.4002:0.0	.	2157	Q8TD26	CHD6_HUMAN	V	2157	ENSP00000362330:A2157V	ENSP00000362330:A2157V	A	-	2	0	0	CHD6	39478658	39478658	0.006000	0.16342	0.838000	0.33150	0.043000	0.13939	0.921000	0.28718	0.248000	0.21435	-0.126000	0.14955	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-2.766977	1	0.170000				19	18		514	505	0		1	0		0	0	98	0		9.999891e-01	3.480456e-01	0	1	0	32	0	19	514
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					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)			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)				TTTGCTTATTGAGATGGTAAT	0.453																																						ENST00000373233.3	1.000000	0.380000	7.400000e-01	4.800000e-01	0.590000	0.617447	0.590000	0.580000																										0				129						c.(5212-5214)tCa>tTa		chromodomain helicase DNA binding protein 6							89.0	92.0	91.0					20																	40050062		2203	4300	6503	SO:0001583	missense	84181	0	0					g.chr20:40050062G>A	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.5213C>T	chr20.hg19:g.40050062G>A	ENSP00000362330:p.Ser1738Leu	0						p.S1738L	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		31	5390	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	1	1	hg19	c.5213C>T	CCDS13317.1	0	.	.	.	.	.	.	.	.	.	.	G	4.040	0.005104	0.07866	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.03	5.0	0.66597	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	T	0.72244	0.3436	N	0.12746	0.255	0.22034	N	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.60850	-0.7181	10	0.41790	T	0.15	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	1738	Q8TD26	CHD6_HUMAN	L	1738	ENSP00000362330:S1738L	ENSP00000362330:S1738L	S	-	2	0	0	CHD6	39483476	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-2.878565	1	0.170000				24	26		463	455	0		1	0		0	0	112	0		9.999996e-01	3.829169e-01	0	1	0	25	0	24	463
CHD6	84181	broad.mit.edu	37	20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1504					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)			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)				CCGGCACATGGCCACAAAACT	0.418																																						ENST00000373233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				129						c.(4510-4512)gCc>gAc		chromodomain helicase DNA binding protein 6							232.0	255.0	247.0					20																	40052176		2203	4300	6503	SO:0001583	missense	84181	0	0					g.chr20:40052176G>T	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.4511C>A	chr20.hg19:g.40052176G>T	ENSP00000362330:p.Ala1504Asp	0						p.A1504D	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		30	4688	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	1	1	hg19	c.4511C>A	CCDS13317.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380218	0.82682	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	6.07	6.07	0.98685	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.194968	0.36482	N	0.002566	D	0.92773	0.7702	M	0.82323	2.585	0.80722	D	1	P	0.39883	0.693	P	0.45794	0.493	D	0.92712	0.6184	10	0.87932	D	0	-8.0985	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1504	Q8TD26	CHD6_HUMAN	D	1504	ENSP00000362330:A1504D	ENSP00000362330:A1504D	A	-	2	0	0	CHD6	39485590	39485590	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.654000	0.83653	2.884000	0.98904	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1		2	2	2	0		0	0	412		412	411	1	2.060000	-20.000000	1	0.170000				314	308		1337	1314	1		1	1		0	0	412	0		1	9.911617e-01	0	5	0	28	0	314	1337
CHD6	84181	broad.mit.edu	37	20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					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)			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)				GGGTCTGCTCGCATGGCATTG	0.463																																						ENST00000373233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				129						c.(3901-3903)Cga>Tga		chromodomain helicase DNA binding protein 6							113.0	103.0	106.0					20																	40068746		2203	4300	6503	SO:0001587	stop_gained	84181	0	0					g.chr20:40068746G>A	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.3901C>T	chr20.hg19:g.40068746G>A	ENSP00000362330:p.Arg1301*	0					CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	p.R1301*	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		26	4078	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	0	1	hg19	c.3901C>T	CCDS13317.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.586576	0.99432	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	.	.	.	5.74	2.59	0.31030	5.74	2.59	0.31030	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9327	14.8072	0.69965	0.0:0.0:0.6242:0.3758	.	.	.	.	X	1301;784	.	ENSP00000308684:R784X	R	-	1	2	2	CHD6	39502160	39502160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	0.757000	0.33036	0.563000	0.77884	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.793498	1	0.170000				66	65		244	241	1		1	1		0	0	50	0		1	9.952667e-01	0	2	0	31	0	66	244
CHD6	84181	broad.mit.edu	37	20	40081484	40081484	+	Silent	SNP	G	G	A	rs375979334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40081484G>A	ENST00000373233.3	-	21	3396	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					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)			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)				CGTCTGAGTCGCTGTCTAACT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19578	0.0		0.0	False		,,,				2504	0.0					ENST00000373233.3	1.000000	0.140000	4.000000e-01	2.000000e-01	0.280000	0.325658	0.280000	0.270000																										0				129						c.(3217-3219)agC>agT		chromodomain helicase DNA binding protein 6		G		0,4406		0,0,2203	149.0	119.0	129.0		3219	-1.5	1.0	20		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD6	NM_032221.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1073/2716	40081484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84181	5	121412	39				g.chr20:40081484G>A	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.3219C>T	chr20.hg19:g.40081484G>A		0					CHD6_ENST00000309279.7_Intron	p.S1073S	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		21	3396	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	0	1	hg19	c.3219C>T	CCDS13317.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-2.792689	1	0.170000				10	10		428	416	0		1	0		0	0	73	0		9.964936e-01	2.375674e-01	0	0	0	37	0	10	428
CHD6	84181	broad.mit.edu	37	20	40111947	40111947	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						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)			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)				CACAAGTCTCACCTTCTCTGG	0.413																																						ENST00000373233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				129						c.e16+1		chromodomain helicase DNA binding protein 6							78.0	69.0	72.0					20																	40111947		2203	4300	6503	SO:0001630	splice_region_variant	84181	0	0					g.chr20:40111947A>G	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.2468+1T>C	chr20.hg19:g.40111947A>G		0					CHD6_ENST00000309279.7_Intron		NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		16	2646	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	1	1	hg19		CCDS13317.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316159	0.81469	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2157	0.73264	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CHD6	39545361	39545361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.055000	0.93873	2.241000	0.73720	0.533000	0.62120	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000		Intron		35	35		151	148	1		1	1		0	0	21	0		1	6.447313e-01	0	11	0	0	0	35	151
CHD6	84181	broad.mit.edu	37	20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|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)			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)				TAGGCCCATCTCATCAGCCAA	0.398																																						ENST00000373233.3	1.000000	0.290000	5.400000e-01	3.600000e-01	0.440000	0.472623	0.440000	0.430000																										0				129						c.(1459-1461)gAg>gGg		chromodomain helicase DNA binding protein 6							118.0	131.0	127.0					20																	40118638		2203	4300	6503	SO:0001583	missense	84181	0	0					g.chr20:40118638T>C	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.1460A>G	chr20.hg19:g.40118638T>C	ENSP00000362330:p.Glu487Gly	0					CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	p.E487G	NM_032221.3	NP_115597.3	1	2	3	1.995265	Q8TD26	CHD6_HUMAN		12	1637	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	1	1	hg19	c.1460A>G	CCDS13317.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689115|4.689115	0.88735|0.88735	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95788|.	-3.81;-3.81|.	5.27|5.27	5.27|5.27	0.74061|0.74061	5.27|5.27	5.27|5.27	0.74061|0.74061	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.88897|0.88897	0.6562|0.6562	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	G|G	487|190	ENSP00000362330:E487G;ENSP00000308684:E487G|.	ENSP00000308684:E487G|.	E|R	-|-	2|1	0|2	0|2	CHD6|CHD6	39552052|39552052	39552052|39552052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.967000|7.967000	0.87967|0.87967	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAG|AGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.895740	1	0.170000				28	28		733	722	0		1	0		0	0	123	0		1	2.040696e-01	0	1	0	21	0	28	733
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A	rs189118400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373187.1	-	24	3344	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373198.4_Silent_p.C1134C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373201.1_Silent_p.C1105C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			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)				GCTCACGCACGCAGTTGAAGA	0.582													G|||	6	0.00119808	0.0	0.0	5008	,	,		21259	0.006		0.0	False		,,,				2504	0.0					ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(3343-3345)tgC>tgT		protein tyrosine phosphatase, receptor type, T							95.0	105.0	102.0					20																	40735471		2114	4235	6349	SO:0001819	synonymous_variant	11122	46	121134	49				g.chr20:40735471G>A	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.3345C>T	chr20.hg19:g.40735471G>A		0					PTPRT_ENST00000373198.4_Silent_p.C1134C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373193.3_Silent_p.C1118C	p.C1115C			1	2	3	1.995265	O14522	PTPRT_HUMAN		24	3344	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	1	1	hg19	c.3345C>T	CCDS42874.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000				116	115		482	476	1		1	0		0	0	92	0		1	3.828619e-02	0	0	0	2	0	116	482
PTPRT	11122	broad.mit.edu	37	20	40739056	40739056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373187.1	-	23	3170	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373198.4_Silent_p.C1076C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373201.1_Silent_p.C1047C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1057	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			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)				CAGTGGCATAGCAGGGAACGC	0.597																																						ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				176						c.(3169-3171)tgC>tgT		protein tyrosine phosphatase, receptor type, T							60.0	70.0	67.0					20																	40739056		1974	4138	6112	SO:0001819	synonymous_variant	11122	0	0					g.chr20:40739056G>A	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.3171C>T	chr20.hg19:g.40739056G>A		0					PTPRT_ENST00000373198.4_Silent_p.C1076C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373193.3_Silent_p.C1060C	p.C1057C			1	2	3	1.995265	O14522	PTPRT_HUMAN		23	3170	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	1	1	hg19	c.3171C>T	CCDS42874.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.322685	1	0.170000				50	49		286	276	1		1			0	0	53	0		1	0	0	0	0	0	0	50	286
PTPRT	11122	broad.mit.edu	37	20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373187.1	-	20	2875	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A978V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	959	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			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)				ACCTTGAGTCGCAATGTAGTG	0.507																																						ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(2875-2877)gCg>gTg		protein tyrosine phosphatase, receptor type, T							135.0	134.0	134.0					20																	40748583		1914	4131	6045	SO:0001583	missense	11122	0	0					g.chr20:40748583G>A	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.2876C>T	chr20.hg19:g.40748583G>A	ENSP00000362283:p.Ala959Val	0					PTPRT_ENST00000373198.4_Missense_Mutation_p.A978V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V	p.A959V			1	2	3	1.995265	O14522	PTPRT_HUMAN		20	2875	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	1	1	hg19	c.2876C>T	CCDS42874.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.704283	0.96812	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.955	T	0.72513	-0.4270	10	0.87932	D	0	.	19.6134	0.95619	0.0:0.0:1.0:0.0	.	981;959	O14522-1;O14522	.;PTPRT_HUMAN	V	958;959;962;968;981;949;949	ENSP00000362286:A958V;ENSP00000362283:A959V;ENSP00000362289:A962V;ENSP00000348408:A968V;ENSP00000362294:A981V;ENSP00000362280:A949V;ENSP00000362297:A949V	ENSP00000348408:A968V	A	-	2	0	0	PTPRT	40181997	40181997	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.792000	0.99085	2.631000	0.89168	0.655000	0.94253	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-20.000000	1	0.170000				93	91		450	441	1		1	0		0	0	107	0		1	0	0	0	0	1	0	93	450
RBCK1	10616	broad.mit.edu	37	20	409726	409726	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000353660.3_Silent_p.R438R|RBCK1_ENST00000382181.2_Silent_p.R310R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637																																						ENST00000356286.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1438-1440)cgC>cgT		RanBP-type and C3HC4-type zinc finger containing 1							34.0	39.0	37.0					20																	409726		2203	4300	6503	SO:0001819	synonymous_variant	10616	0	0					g.chr20:409726C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1440C>T	chr20.hg19:g.409726C>T		0					RBCK1_ENST00000382181.2_Silent_p.R310R|RBCK1_ENST00000353660.3_Silent_p.R438R	p.R480R	NM_031229.2	NP_112506.2	1	2	3	1.995265	Q9BYM8	HOIL1_HUMAN		11	2145	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	1	1	hg19	c.1440C>T	CCDS13000.2	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_031229			46	46		197	196	1		1	1		0	0	34	0		1	1	0	30	0	137	0	46	197
PTPRT	11122	broad.mit.edu	37	20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373187.1	-	16	2437	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A832V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	813					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)			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)				ATTGCGGCTGGCGCTGAGCTT	0.572																																						ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				176						c.(2437-2439)gCc>gTc		protein tyrosine phosphatase, receptor type, T							233.0	241.0	238.0					20																	40827933		2052	4202	6254	SO:0001583	missense	11122	0	0					g.chr20:40827933G>A	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.2438C>T	chr20.hg19:g.40827933G>A	ENSP00000362283:p.Ala813Val	0					PTPRT_ENST00000373198.4_Missense_Mutation_p.A832V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V	p.A813V			1	2	3	1.995265	O14522	PTPRT_HUMAN		16	2437	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	1	1	hg19	c.2438C>T	CCDS42874.1	1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886738	0.51908	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35048	1.36;1.36;1.35;1.35;1.35;1.33;1.33	6.03	4.09	0.47781	6.03	4.09	0.47781	.	0.964896	0.08646	N	0.914735	T	0.29524	0.0736	N	0.22421	0.69	0.22199	N	0.999295	B;B	0.21821	0.061;0.021	B;B	0.22152	0.038;0.017	T	0.30208	-0.9986	10	0.52906	T	0.07	.	12.3664	0.55230	0.1346:0.0:0.8654:0.0	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	V	813;813;816;822;835;803;803	ENSP00000362286:A813V;ENSP00000362283:A813V;ENSP00000362289:A816V;ENSP00000348408:A822V;ENSP00000362294:A835V;ENSP00000362280:A803V;ENSP00000362297:A803V	ENSP00000348408:A822V	A	-	2	0	0	PTPRT	40261347	40261347	1.000000	0.71417	0.625000	0.29200	0.909000	0.53808	5.046000	0.64226	0.884000	0.36064	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	0		2	2	2	0		0	0	351		351	350	1	2.060000	-20.000000	1	0.170000				181	179		1528	1485	1		1			0	0	351	0		1	0	0	0	0	0	0	181	1528
PTPRT	11122	broad.mit.edu	37	20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373187.1	-	10	1678	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373198.4_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	560	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				GGAATAGGTGGTCCCTGGGTA	0.557																																						ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(1678-1680)aCc>aTc		protein tyrosine phosphatase, receptor type, T							82.0	88.0	86.0					20																	40980807		1946	4134	6080	SO:0001583	missense	11122	0	0					g.chr20:40980807G>A	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.1679C>T	chr20.hg19:g.40980807G>A	ENSP00000362283:p.Thr560Ile	0					PTPRT_ENST00000373198.4_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I	p.T560I			1	2	3	1.995265	O14522	PTPRT_HUMAN		10	1678	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	1	1	hg19	c.1679C>T	CCDS42874.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.102881	0.94245	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.03	6.03	0.97812	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049111	0.85682	D	0.000000	D	0.84687	0.5527	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	D	0.86715	0.1938	10	0.87932	D	0	.	20.5541	0.99286	0.0:0.0:1.0:0.0	.	560;560	O14522-1;O14522	.;PTPRT_HUMAN	I	560	ENSP00000362286:T560I;ENSP00000362283:T560I;ENSP00000362289:T560I;ENSP00000348408:T560I;ENSP00000362294:T560I;ENSP00000362280:T560I;ENSP00000362297:T560I	ENSP00000348408:T560I	T	-	2	0	0	PTPRT	40414221	40414221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				87	84		379	371	1		1			0	0	81	0		1	0	0	0	0	0	0	87	379
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A	rs566360232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					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)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.0					ENST00000305958.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1624-1626)cGc>cAc		spermine oxidase	Spermine(DB00127)						61.0	53.0	56.0					20																	4168011		2203	4300	6503	SO:0001583	missense	54498	4	121410	35				g.chr20:4168011G>A	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.1625G>A	chr20.hg19:g.4168011G>A	ENSP00000307252:p.Arg542His	0					SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H	p.R542H	NM_175839.2	NP_787033.1	1	2	3	1.995265	Q9NWM0	SMOX_HUMAN		7	1850	+			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	1	1	hg19	c.1625G>A	CCDS13075.1	1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	0	SMOX	4116011	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_175842			75	73		300	292	1		1	1		0	0	76	0		1	1	0	35	0	70	0	75	300
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373187.1	-	3	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373198.4_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	104	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)			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)				TAATGGAAGTCGATGCAGTGG	0.567																																						ENST00000373187.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(310-312)Gac>Aac		protein tyrosine phosphatase, receptor type, T							53.0	57.0	56.0					20																	41420011		1947	4162	6109	SO:0001583	missense	11122	1	120884	30				g.chr20:41420011C>T	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.310G>A	chr20.hg19:g.41420011C>T	ENSP00000362283:p.Asp104Asn	0					PTPRT_ENST00000373198.4_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N	p.D104N			1	2	3	1.995265	O14522	PTPRT_HUMAN		3	309	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	1	1	hg19	c.310G>A	CCDS42874.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783982	0.70222	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.051333	0.85682	D	0.000000	T	0.03915	0.0110	L	0.48642	1.525	0.58432	D	0.999993	B;B	0.30563	0.242;0.285	B;B	0.25614	0.037;0.062	T	0.47142	-0.9140	10	0.66056	D	0.02	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	104;104	O14522-1;O14522	.;PTPRT_HUMAN	N	104	ENSP00000362286:D104N;ENSP00000362283:D104N;ENSP00000362289:D104N;ENSP00000348408:D104N;ENSP00000362294:D104N;ENSP00000362280:D104N;ENSP00000362297:D104N	ENSP00000348408:D104N	D	-	1	0	0	PTPRT	40853425	40853425	0.996000	0.38824	0.996000	0.52242	0.959000	0.62525	3.318000	0.51975	2.676000	0.91093	0.561000	0.74099	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000				57	56		225	220	1		1	0		0	0	56	0		1	0	0	0	0	1	0	57	225
SGK2	10110	broad.mit.edu	37	20	42208675	42208675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000341458.4	+	11	1312	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000373100.1_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	365	AGC-kinase C-terminal.				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)			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)			CCACAAGAGGCTAACTCCACC	0.478																																						ENST00000341458.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1093-1095)Cta>Tta		serum/glucocorticoid regulated kinase 2							126.0	112.0	117.0					20																	42208675		2203	4300	6503	SO:0001819	synonymous_variant	10110	0	0					g.chr20:42208675C>T	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.1093C>T	chr20.hg19:g.42208675C>T		0					SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000373100.1_Silent_p.L305L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L	p.L365L	NM_016276.3	NP_057360.2	1	2	3	1.995265	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)	11	1312	+		Myeloproliferative disorder(115;0.00452)	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	1	1	hg19	c.1093C>T	CCDS13320.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				48	46		251	246	1		1	1		0	0	71	0		1	4.426256e-01	0	2	0	7	0	48	251
IFT52	51098	broad.mit.edu	37	20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	145					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388																																						ENST00000373030.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				21						c.(433-435)Gga>Aga		intraflagellar transport 52							98.0	99.0	99.0					20																	42233661		2203	4300	6503	SO:0001583	missense	51098	0	0					g.chr20:42233661G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.433G>A	chr20.hg19:g.42233661G>A	ENSP00000362121:p.Gly145Arg	0					IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	p.G145R	NM_016004.2	NP_057088.2	1	2	3	1.995265	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)	6	563	+		Myeloproliferative disorder(115;0.00452)	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	1	1	hg19	c.433G>A	CCDS33470.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012953	0.54468	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.049267	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66506	2.035	0.80722	D	1	P	0.34934	0.476	B	0.33890	0.172	T	0.65957	-0.6042	9	0.48119	T	0.1	-7.7292	17.4356	0.87550	0.0:0.0:1.0:0.0	.	145	Q9Y366	IFT52_HUMAN	R	145	.	ENSP00000362121:G145R	G	+	1	0	0	IFT52	41667075	41667075	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	7.176000	0.77643	2.480000	0.83734	0.561000	0.74099	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.116764	1	0.170000	NM_016004			34	34		176	174	1		1	1		0	0	52	0		1	1	0	39	0	131	0	34	176
MYBL2	4605	broad.mit.edu	37	20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	rs142211101	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	249					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)			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)			GCAGCAGCCACCACATCGAAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		20315	0.002		0.0	False		,,,				2504	0.0					ENST00000217026.4	1.000000	0.250000	7.600000e-01	3.700000e-01	0.530000	0.566147	0.530000	0.500000																										0				46						c.(745-747)aCc>aTc		v-myb avian myeloblastosis viral oncogene homolog-like 2							81.0	68.0	72.0					20																	42328479		2203	4300	6503	SO:0001583	missense	4605	10	121412	38				g.chr20:42328479C>T		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.746C>T	chr20.hg19:g.42328479C>T	ENSP00000217026:p.Thr249Ile	0					MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	p.T249I	NM_002466.2	NP_002457.1	1	2	3	1.995265	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)	7	873	+		Myeloproliferative disorder(115;0.00452)	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	1	1	hg19	c.746C>T	CCDS13322.1	0	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.82	1.751527	0.31046	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	4.77	0.60923	4.77	4.77	0.60923	.	1.690320	0.02888	N	0.133759	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.135;0.437	B;B	0.27500	0.071;0.08	T	0.24548	-1.0157	10	0.36615	T	0.2	-3.3195	14.0289	0.64604	0.0:1.0:0.0:0.0	.	225;249	F8W6N6;P10244	.;MYBB_HUMAN	I	225;249	ENSP00000380072:T225I;ENSP00000217026:T249I	ENSP00000217026:T249I	T	+	2	0	0	MYBL2	41761893	41761893	0.002000	0.14202	0.006000	0.13384	0.046000	0.14306	0.854000	0.27791	2.575000	0.86900	0.650000	0.86243	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-10.650520	1	0.170000	NM_002466			8	8		180	177	0		1	1		0	0	42	0		9.891446e-01	3.133022e-01	0	6	0	18	0	8	180
MYBL2	4605	broad.mit.edu	37	20	42340139	42340139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	539					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)			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)			CACAGACCCCGCACCTGGAGG	0.627																																						ENST00000217026.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998842	0.990000	1.000000																										0				46						c.(1615-1617)ccG>ccA		v-myb avian myeloblastosis viral oncogene homolog-like 2							54.0	45.0	48.0					20																	42340139		2203	4300	6503	SO:0001819	synonymous_variant	4605	0	0					g.chr20:42340139G>A		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.1617G>A	chr20.hg19:g.42340139G>A		0					MYBL2_ENST00000396863.4_Silent_p.P515P	p.P539P	NM_002466.2	NP_002457.1	1	2	3	1.995265	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)	11	1744	+		Myeloproliferative disorder(115;0.00452)	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	1	1	hg19	c.1617G>A	CCDS13322.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_002466			16	15		88	88	1		1	1		0	0	26	0		9.999545e-01	9.945692e-01	0	3	0	48	0	16	88
TOX2	84969	broad.mit.edu	37	20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582																																						ENST00000358131.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				26						c.(904-906)Cag>Tag		TOX high mobility group box family member 2							46.0	41.0	43.0					20																	42683164		2203	4300	6503	SO:0001587	stop_gained	84969	0	0					g.chr20:42683164C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.904C>T	chr20.hg19:g.42683164C>T	ENSP00000350849:p.Gln302*	0					TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*	p.Q302*	NM_001098798.1	NP_001092268.1	1	2	3	1.995265	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	5	1112	+		Myeloproliferative disorder(115;0.00452)	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	0	1	hg19	c.904C>T	CCDS42875.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.147499	0.98096	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2447	0.89981	0.0:1.0:0.0:0.0	.	.	.	.	X	293;251;251;302;171	.	ENSP00000344724:Q293X	Q	+	1	0	0	TOX2	42116578	42116578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				27	27		106	104	0		1	0		0	0	20	0		1	9.625727e-01	0	0	0	24	0	27	106
TOX2	84969	broad.mit.edu	37	20	42694624	42694624	+	Silent	SNP	C	C	T	rs200781086	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000423191.2_Silent_p.H369H|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	393	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701													C|||	2	0.000399361	0.0	0.0	5008	,	,		10759	0.0		0.0	False		,,,				2504	0.002					ENST00000358131.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1177-1179)caC>caT		TOX high mobility group box family member 2		C	,,,	1,4403	2.1+/-5.4	0,1,2201	27.0	30.0	29.0		1107,1233,1179,1107	-1.5	1.0	20		29	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,,	369/465,411/507,393/489,369/465	42694624	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84969	41	121298	44				g.chr20:42694624C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1179C>T	chr20.hg19:g.42694624C>T		0					TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000423191.2_Silent_p.H369H	p.H393H	NM_001098798.1	NP_001092268.1	1	2	3	1.995265	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	6	1387	+		Myeloproliferative disorder(115;0.00452)	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	1	1	hg19	c.1179C>T	CCDS42875.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000				53	51		235	230	0		1	0		0	0	51	0		1	1.611057e-01	0	0	0	4	0	53	235
TOX2	84969	broad.mit.edu	37	20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000423191.2_Missense_Mutation_p.N431S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	455	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637																																						ENST00000358131.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1363-1365)aAc>aGc		TOX high mobility group box family member 2							127.0	119.0	122.0					20																	42695431		2203	4300	6503	SO:0001583	missense	84969	0	0					g.chr20:42695431A>G	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1364A>G	chr20.hg19:g.42695431A>G	ENSP00000350849:p.Asn455Ser	0					TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000423191.2_Missense_Mutation_p.N431S	p.N455S	NM_001098798.1	NP_001092268.1	1	2	3	1.995265	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	7	1572	+		Myeloproliferative disorder(115;0.00452)	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	1	1	hg19	c.1364A>G	CCDS42875.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.373|8.373	0.835797|0.835797	0.16820|0.16820	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.17370|.	2.6;2.6;2.6;2.28;2.32|.	5.78|5.78	2.26|2.26	0.28386|0.28386	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	0.655368|.	0.14705|.	N|.	0.303308|.	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.58810|0.58810	1.83|1.83	0.36582|0.36582	D|D	0.873572|0.873572	B;P;P;P|.	0.47106|.	0.011;0.89;0.824;0.622|.	B;B;B;B|.	0.43413|.	0.005;0.419;0.3;0.152|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|6	0.42905|0.87932	T|D	0.14|0	.|.	5.3812|5.3812	0.16192|0.16192	0.7002:0.148:0.1518:0.0|0.7002:0.148:0.1518:0.0	.|.	351;473;455;431|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	S|A	473;431;431;455;351|80	ENSP00000344724:N473S;ENSP00000390278:N431S;ENSP00000362090:N431S;ENSP00000350849:N455S;ENSP00000396777:N351S|.	ENSP00000344724:N473S|ENSP00000362083:T80A	N|T	+|+	2|1	0|0	0|0	TOX2|TOX2	42128845|42128845	42128845|42128845	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.197000|0.197000	0.23852|0.23852	2.105000|2.105000	0.41825|0.41825	0.102000|0.102000	0.17638|0.17638	0.533000|0.533000	0.62120|0.62120	AAC|ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				133	129		623	604	1		1	0		0	0	136	0		1	6.514454e-01	0	0	0	12	0	133	623
JPH2	57158	broad.mit.edu	37	20	42744440	42744440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	625	Pro-rich.				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)			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)			GGATGATGGGCTTGGGCTCCA	0.741																																						ENST00000372980.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				32						c.(1873-1875)aaG>aaA		junctophilin 2							19.0	22.0	21.0					20																	42744440		2202	4298	6500	SO:0001819	synonymous_variant	57158	0	0					g.chr20:42744440C>T	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.1875G>A	chr20.hg19:g.42744440C>T		0						p.K625K	NM_020433.4	NP_065166.2	1	2	3	1.995265	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	4	2747	-		Myeloproliferative disorder(115;0.0122)	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	1	1	hg19	c.1875G>A	CCDS13325.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				38	35		188	182	0		1	0		0	0	47	0		1	0	0	0	0	1	0	38	188
JPH2	57158	broad.mit.edu	37	20	42788611	42788611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	272					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)			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)			CCTCGTCGGCGCCCTCGGCGG	0.687																																						ENST00000372980.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999603	0.990000	1.000000																										0				32						c.(814-816)ggC>ggT		junctophilin 2							22.0	22.0	22.0					20																	42788611		2199	4297	6496	SO:0001819	synonymous_variant	57158	0	0					g.chr20:42788611G>A	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.816C>T	chr20.hg19:g.42788611G>A		0						p.G272G	NM_020433.4	NP_065166.2	1	2	3	1.995265	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	2	1688	-		Myeloproliferative disorder(115;0.0122)	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	1	1	hg19	c.816C>T	CCDS13325.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000				16	16		75	74	0		1			0	0	15	0		9.999575e-01	0	0	0	0	0	0	16	75
GDAP1L1	78997	broad.mit.edu	37	20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	326	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612																																						ENST00000342560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(976-978)gTc>gAc		ganglioside induced differentiation associated protein 1-like 1							134.0	118.0	123.0					20																	42907813		2203	4300	6503	SO:0001583	missense	78997	0	0					g.chr20:42907813T>A		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.977T>A	chr20.hg19:g.42907813T>A	ENSP00000341782:p.Val326Asp	0					GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	p.V326D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	1	2	3	1.995265	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	6	1065	+		Myeloproliferative disorder(115;0.0122)	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	1	1	hg19	c.977T>A	CCDS13328.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298469	0.81025	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98419	-4.92;-4.92;-4.92	5.14	5.14	0.70334	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.996	D	0.99834	1.1056	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:0.0:1.0	.	268;345;326	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	D	326;321;268;292;268;134	ENSP00000341782:V326D;ENSP00000392881:V268D;ENSP00000440498:V134D	ENSP00000341782:V326D	V	+	2	0	0	GDAP1L1	42341227	42341227	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.565000	0.82337	2.064000	0.61679	0.482000	0.46254	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	1	0	1		17	2	2	0		0	1	141		141	138	1	2.060000	-20.000000	1	0.170000	NM_024034			164	155		548	536	1		1			0	0	141	0		1	0	0	0	0	0	0	164	548
FITM2	128486	broad.mit.edu	37	20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	250					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CAAACTACAGCTCTGGGGAGG	0.423																																						ENST00000396825.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(748-750)aGc>aTc		fat storage-inducing transmembrane protein 2							58.0	64.0	62.0					20																	42935305		2203	4300	6503	SO:0001583	missense	128486	0	0					g.chr20:42935305C>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.749G>T	chr20.hg19:g.42935305C>A	ENSP00000380037:p.Ser250Ile	0						p.S250I	NM_001080472.1	NP_001073941.1	1	2	3	1.995265	Q8N6M3	FITM2_HUMAN		2	769	-			A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	1	1	hg19	c.749G>T	CCDS33473.1	1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748150	0.15710	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.76	3.81	0.43845	5.76	3.81	0.43845	.	0.338611	0.37530	N	0.002041	T	0.38878	0.1057	L	0.34521	1.04	0.34742	D	0.730827	B	0.23316	0.083	B	0.15870	0.014	T	0.46119	-0.9214	9	0.59425	D	0.04	.	8.5745	0.33590	0.0:0.7255:0.1277:0.1468	.	250	Q8N6M3	FITM2_HUMAN	I	250	.	ENSP00000380037:S250I	S	-	2	0	0	FITM2	42368719	42368719	0.462000	0.25791	0.864000	0.33941	0.123000	0.20343	0.806000	0.27126	0.760000	0.33108	-0.150000	0.13652	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	XM_371399			64	63		361	349	1		1	1		0	0	71	0		1	8.246743e-01	0	6	0	14	0	64	361
FITM2	128486	broad.mit.edu	37	20	42935595	42935595	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	153					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						AGGAGTGACCTGAGATGTCAA	0.582																																						ENST00000396825.3	1.000000	0.190000	5.500000e-01	2.700000e-01	0.390000	0.429182	0.390000	0.370000																										0				6						c.(457-459)tcA>tcG		fat storage-inducing transmembrane protein 2							120.0	87.0	98.0					20																	42935595		2203	4300	6503	SO:0001819	synonymous_variant	128486	2	121412	34				g.chr20:42935595T>C	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.459A>G	chr20.hg19:g.42935595T>C		0						p.S153S	NM_001080472.1	NP_001073941.1	1	2	3	1.995265	Q8N6M3	FITM2_HUMAN		2	479	-			A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	ENST00000396825.3	1	1	hg19	c.459A>G	CCDS33473.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-10.219750	1	0.170000	XM_371399			9	9		279	272	0		1	1		0	0	60	0		9.937515e-01	2.522020e-01	0	2	0	26	0	9	279
TTPAL	79183	broad.mit.edu	37	20	43117903	43117903	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372904.3	+	6	893		c.e6-1		TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like							intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCCCTTTTAGTTCTTCCTCC	0.463																																						ENST00000372904.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.e6-1		tocopherol (alpha) transfer protein-like							48.0	45.0	46.0					20																	43117903		2203	4300	6503	SO:0001630	splice_region_variant	79183	0	0					g.chr20:43117903G>A	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.751-1G>A	chr20.hg19:g.43117903G>A		0					TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site		NM_024331.4	NP_077307.2	1	2	3	1.995265	Q9BTX7	TTPAL_HUMAN		6	893	+			E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Splice_Site	SNP	ENST00000372904.3	1	1	hg19		CCDS13332.2	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713898	0.68730	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	.	.	.	6.04	5.1	0.69264	6.04	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0869	0.72162	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TTPAL	42551317	42551317	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.599000	0.98280	1.571000	0.49722	0.563000	0.77884	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_024331	Intron		42	43		214	207	1		1	1		0	0	57	0		1	4.552108e-01	0	8	0	1	0	42	214
SERINC3	10955	broad.mit.edu	37	20	43133515	43133515	+	Silent	SNP	G	G	A	rs201065201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267					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)			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)			GCAAGAGGCCGGAGCGAGGCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20839	0.0		0.0	False		,,,				2504	0.0					ENST00000342374.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				18						c.(799-801)tcC>tcT		serine incorporator 3							130.0	115.0	120.0					20																	43133515		2203	4300	6503	SO:0001819	synonymous_variant	10955	7	121412	40				g.chr20:43133515G>A	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.801C>T	chr20.hg19:g.43133515G>A		0					SERINC3_ENST00000541235.1_Silent_p.S212S|SERINC3_ENST00000255175.1_Silent_p.S267S	p.S267S	NM_006811.2	NP_006802.1	1	2	3	1.995265	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)	7	958	-		Myeloproliferative disorder(115;0.0122)	B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	1	1	hg19	c.801C>T	CCDS13333.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-2.712050	1	0.170000	NM_006811			33	33		154	152	1		1	1		0	0	35	0		1	1	0	131	0	549	0	33	154
SERINC3	10955	broad.mit.edu	37	20	43135535	43135535	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43135535A>G	ENST00000342374.4	-	6	873	c.716T>C	c.(715-717)tTc>tCc	p.F239S	SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S|SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	239					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)			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)			ACTGATGAAGAACTTGTTTTC	0.393																																						ENST00000342374.4	1.000000	0.100000	3.500000e-01	1.500000e-01	0.230000	0.281248	0.230000	0.220000																										0				18						c.(715-717)tTc>tCc		serine incorporator 3							118.0	109.0	112.0					20																	43135535		2203	4300	6503	SO:0001583	missense	10955	0	0					g.chr20:43135535A>G	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.716T>C	chr20.hg19:g.43135535A>G	ENSP00000340243:p.Phe239Ser	0					SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S|SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S	p.F239S	NM_006811.2	NP_006802.1	1	2	3	1.995265	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)	6	873	-		Myeloproliferative disorder(115;0.0122)	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	0	1	hg19	c.716T>C	CCDS13333.1	0	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145433	0.77888	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.15017	2.46;2.46;2.46	4.75	3.62	0.41486	4.75	3.62	0.41486	.	0.187687	0.64402	D	0.000018	T	0.27419	0.0673	M	0.80982	2.52	0.58432	D	0.999993	P;B	0.34462	0.454;0.292	B;B	0.39935	0.314;0.232	T	0.05699	-1.0869	10	0.54805	T	0.06	.	11.7919	0.52073	0.8529:0.1471:0.0:0.0	.	239;239	Q53GK8;Q13530	.;SERC3_HUMAN	S	239;239;206;184	ENSP00000255175:F239S;ENSP00000340243:F239S;ENSP00000440966:F184S	ENSP00000255175:F239S	F	-	2	0	0	SERINC3	42568949	42568949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.738000	0.47401	0.918000	0.36919	0.383000	0.25322	TTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	0	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-7.178083	1	0.170000	NM_006811			7	7		371	363	0		1	1		0	0	79	0		9.793105e-01	9.941617e-01	0	17	0	494	0	7	371
WISP2	8839	broad.mit.edu	37	20	43353497	43353497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	ENST00000372868.2	+	4	739	c.396G>A	c.(394-396)ccG>ccA	p.P132P	WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Intron|WISP2_ENST00000190983.4_Silent_p.P132P			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	132	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCTGCGTGCCGCTGTGCAGCG	0.697																																						ENST00000372868.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				1						c.(394-396)ccG>ccA		WNT1 inducible signaling pathway protein 2							24.0	19.0	21.0					20																	43353497		2198	4295	6493	SO:0001819	synonymous_variant	8839	0	0					g.chr20:43353497G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.396G>A	chr20.hg19:g.43353497G>A		0					RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR	p.P132P			1	2	3	1.995265	O76076	WISP2_HUMAN		4	739	+		Myeloproliferative disorder(115;0.0122)	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	1	1	hg19	c.396G>A	CCDS13336.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-20.000000	1	0.170000	NM_003881			21	19		61	59	1		1	0		0	0	11	0		9.999987e-01	1.730506e-01	0	1	0	2	0	21	61
RIMS4	140730	broad.mit.edu	37	20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	131	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)				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)				ATGTCCACCTCCAACTGACCG	0.592																																						ENST00000372851.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(391-393)Gag>Aag		regulating synaptic membrane exocytosis 4							131.0	106.0	114.0					20																	43386371		2203	4300	6503	SO:0001583	missense	140730	0	0					g.chr20:43386371C>T		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.391G>A	chr20.hg19:g.43386371C>T	ENSP00000361942:p.Glu131Lys	0					RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	p.E131K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	1	2	3	1.995265	Q9H426	RIMS4_HUMAN		4	457	-		Myeloproliferative disorder(115;0.0122)	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	1	1	hg19	c.391G>A	CCDS13338.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.779694	0.96929	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.68765	-0.35;-0.35	5.76	5.76	0.90799	5.76	5.76	0.90799	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	0.81307	0.4795	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.69307	0.919;0.963	T	0.82100	-0.0624	10	0.87932	D	0	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	132;131	E1P613;Q9H426	.;RIMS4_HUMAN	K	131;132	ENSP00000361942:E131K;ENSP00000439287:E132K	ENSP00000361942:E131K	E	-	1	0	0	RIMS4	42819785	42819785	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-2.781152	1	0.170000	NM_182970			94	89		480	471	1		1			0	0	101	0		1	0	0	0	0	0	0	94	480
YWHAB	7529	broad.mit.edu	37	20	43530459	43530459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	95					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413																																						ENST00000372839.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(283-285)atC>atT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta							102.0	98.0	99.0					20																	43530459		2203	4300	6503	SO:0001819	synonymous_variant	7529	0	0					g.chr20:43530459C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.285C>T	chr20.hg19:g.43530459C>T		0					YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	p.I95I	NM_003404.3	NP_003395.1	1	2	3	1.995265	P31946	1433B_HUMAN		3	559	+		Myeloproliferative disorder(115;0.0122)	A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	1	1	hg19	c.285C>T	CCDS13339.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_003404			82	80		383	373	1		1	1		0	0	102	0		1	1	0	229	0	628	0	82	383
PABPC1L	80336	broad.mit.edu	37	20	43561803	43561803	+	Missense_Mutation	SNP	C	C	T	rs201624445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43561803C>T	ENST00000217073.2	+	10	1421	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000372824.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	474					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GTGCCACGCACGGTGCCTCAT	0.647																																						ENST00000217073.2	1.000000	0.260000	1	4.700000e-01	0.760000	0.746049	0.760000	1.000000																										0				20						c.(1420-1422)aCg>aTg		poly(A) binding protein, cytoplasmic 1-like		C	MET/THR	0,3136		0,0,1568	22.0	24.0	23.0		1421	-5.1	0.0	20		23	2,7162		0,2,3580	yes	missense	PABPC1L	NM_001124756.1	81	0,2,5148	TT,TC,CC		0.0279,0.0,0.0194	benign	474/615	43561803	2,10298	1568	3582	5150	SO:0001583	missense	80336	4	120492	36				g.chr20:43561803C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1421C>T	chr20.hg19:g.43561803C>T	ENSP00000217073:p.Thr474Met	0					PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000372824.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M	p.T474M			1	2	3	1.995265	Q4VXU2	PAP1L_HUMAN		10	1421	+			Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	0	1	hg19	c.1421C>T	CCDS42878.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.195|3.195	-0.164928|-0.164928	0.06502|0.06502	0.0|0.0	2.79E-4|2.79E-4	ENSG00000101104|ENSG00000101104	ENST00000372826|ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075	.|T;T;T;T;T	.|0.42513	.|2.45;2.45;0.99;0.99;0.97	5.8|5.8	-5.13|-5.13	0.02884|0.02884	5.8|5.8	-5.13|-5.13	0.02884|0.02884	.|.	.|2.038600	.|0.01959	.|N	.|0.043214	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39782	.|0.053;0.688	.|B;B	.|0.30251	.|0.011;0.113	T|T	0.16630|0.16630	-1.0396|-1.0396	5|10	.|0.38643	.|T	.|0.18	.|.	5.5724|5.5724	0.17204|0.17204	0.3691:0.2486:0.0:0.3823|0.3691:0.2486:0.0:0.3823	.|.	.|474;28	.|Q4VXU2;G5E9L3	.|PAP1L_HUMAN;.	W|M	10|474;28;28;474;28;28;28	.|ENSP00000255136:T474M;ENSP00000217073:T474M;ENSP00000361911:T28M;ENSP00000361906:T28M;ENSP00000217075:T28M	.|ENSP00000217073:T474M	R|T	+|+	1|2	2|0	2|0	PABPC1L|PABPC1L	42995217|42995217	42995217|42995217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.325000|-0.325000	0.07976|0.07976	-1.877000|-1.877000	0.01129|0.01129	-0.797000|-0.797000	0.03246|0.03246	CGG|ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2	0	0	1		2	2	2	0		0	0	14		14	12	1	2.060000	-8.214507	1	0.170000				4	4		63	62	0		1	1		0	0	14	0		8.889039e-01	3.445497e-01	0	3	0	14	0	4	63
TOMM34	10953	broad.mit.edu	37	20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453																																						ENST00000372813.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(604-606)gaG>gaT		translocase of outer mitochondrial membrane 34							233.0	190.0	204.0					20																	43577463		2203	4300	6503	SO:0001583	missense	10953	0	0					g.chr20:43577463C>A	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.606G>T	chr20.hg19:g.43577463C>A	ENSP00000361900:p.Glu202Asp	0					PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	p.E202D	NM_006809.4	NP_006800.2	1	2	3	1.995265	Q15785	TOM34_HUMAN		5	758	-		Myeloproliferative disorder(115;0.0122)	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	1	1	hg19	c.606G>T	CCDS13340.1	1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493880	0.26774	.	.	ENSG00000025772	ENST00000372813	T	0.74209	-0.82	5.55	3.61	0.41365	5.55	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.317848	0.33144	N	0.005230	T	0.61098	0.2320	L	0.49350	1.555	0.23879	N	0.996584	B	0.09022	0.002	B	0.06405	0.002	T	0.41574	-0.9501	10	0.13853	T	0.58	-16.6456	5.1116	0.14811	0.0:0.6308:0.1648:0.2044	.	202	Q15785	TOM34_HUMAN	D	202	ENSP00000361900:E202D	ENSP00000361900:E202D	E	-	3	2	2	TOMM34	43010877	43010877	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	0.886000	0.36113	0.585000	0.79938	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	0	0	1		18	11	2	1		1	1	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_006809			57	57		258	247	1		1	1		1	0	55	0		9.999994e-01	9.998465e-01	0	47	0	113	0	57	258
KCNS1	3787	broad.mit.edu	37	20	43727300	43727300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	ENST00000306117.1	-	4	509	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	38					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)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGTGTCGGGGCCCGGGAACTC	0.697																																						ENST00000306117.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.996612	0.990000	1.000000																										0				6						c.(112-114)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1							6.0	7.0	7.0					20																	43727300		1925	4083	6008	SO:0001583	missense	3787	0	0					g.chr20:43727300C>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.113G>A	chr20.hg19:g.43727300C>T	ENSP00000307694:p.Gly38Asp	0					KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	p.G38D	NM_002251.3	NP_002242.2	1	2	3	1.995265	Q96KK3	KCNS1_HUMAN		4	509	-		Myeloproliferative disorder(115;0.0122)	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	0	1	hg19	c.113G>A	CCDS13342.1	1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.240233	0.01493	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96104	-3.91;-3.91	4.6	-0.95	0.10372	4.6	-0.95	0.10372	.	18.571000	0.00481	N	0.000133	D	0.87807	0.6270	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.23574	0.047	T	0.81019	-0.1122	10	0.18710	T	0.47	.	4.4773	0.11750	0.2814:0.4911:0.0:0.2276	.	38	Q96KK3	KCNS1_HUMAN	D	38	ENSP00000307694:G38D;ENSP00000445595:G38D	ENSP00000307694:G38D	G	-	2	0	0	KCNS1	43160714	43160714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.458000	0.06737	-0.489000	0.06716	-1.138000	0.01928	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.728970	1	0.170000	NM_002251			11	11		58	57	0		1			0	0	9	0		9.986935e-01	0	0	0	0	0	0	11	58
MATN4	8785	broad.mit.edu	37	20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000372754.1	-	2	351	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGGATTGCCAGTCCCGTCATG	0.677																																						ENST00000372754.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(343-345)Ctg>Atg		matrilin 4							19.0	17.0	18.0					20																	43933168		2199	4294	6493	SO:0001583	missense	8785	0	0					g.chr20:43933168G>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.343C>A	chr20.hg19:g.43933168G>T	ENSP00000361840:p.Leu115Met	0					RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|RBPJL_ENST00000372741.3_5'Flank	p.L115M			1	2	3	1.995265	O95460	MATN4_HUMAN		2	351	-		Myeloproliferative disorder(115;0.0122)	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	1	1	hg19	c.343C>A		1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932685	0.73442	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.81	3.83	0.44106	4.81	3.83	0.44106	.	0.000000	0.34580	N	0.003846	D	0.90202	0.6937	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.982;1.0;0.994	D	0.90114	0.4194	10	0.52906	T	0.07	.	11.3513	0.49589	0.1481:0.0:0.8519:0.0	.	115;115;115	A6NNA4;O95460-4;O95460-2	.;.;.	M	115	ENSP00000361840:L115M;ENSP00000361842:L115M;ENSP00000243983:L115M;ENSP00000353819:L115M;ENSP00000343164:L115M;ENSP00000440328:L115M	ENSP00000255132:L115M	L	-	1	2	2	MATN4	43366582	43366582	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.524000	0.67105	2.506000	0.84524	0.462000	0.41574	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000				27	27		88	87	1		1			0	0	12	0		1	0	0	0	0	0	0	27	88
RBPJL	11317	broad.mit.edu	37	20	43944880	43944880	+	Silent	SNP	C	C	T	rs536195781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Silent_p.C358C	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	358					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGCTCTTGCTGGACCATCA	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18668	0.0		0.0	False		,,,				2504	0.0					ENST00000343694.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999688	0.990000	1.000000																										0				19						c.(1072-1074)tgC>tgT		recombination signal binding protein for immunoglobulin kappa J region-like							95.0	88.0	90.0					20																	43944880		2203	4300	6503	SO:0001819	synonymous_variant	11317	0	0					g.chr20:43944880C>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1074C>T	chr20.hg19:g.43944880C>T		0					RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000372741.3_Silent_p.C358C	p.C358C	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	1	2	3	1.995265	Q9UBG7	RBPJL_HUMAN		10	1146	+		Myeloproliferative disorder(115;0.0122)	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	1	1	hg19	c.1074C>T	CCDS13349.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-18.890790	1	0.170000	NM_014276			49	47		358	355	1		1	1		0	0	99	0		1	1.615236e-01	0	2	0	4	0	49	358
SDC4	6385	broad.mit.edu	37	20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	142					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)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547			T	ROS1	NSCLC																																	ENST00000372733.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		20	20q12	20q12	6385	T	syndecan 4				E	E	ROS1		NSCLC	SDC4/ROS1(7)	0				5						c.(424-426)gaG>gaT		syndecan 4							143.0	116.0	125.0					20																	43959025		2203	4300	6503	SO:0001583	missense	6385	0	0					g.chr20:43959025C>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.426G>T	chr20.hg19:g.43959025C>A	ENSP00000361818:p.Glu142Asp	0					SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	p.E142D	NM_002999.3	NP_002990.2	1	2	3	1.995265	P31431	SDC4_HUMAN		4	465	-		Myeloproliferative disorder(115;0.0122)	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	1	1	hg19	c.426G>T	CCDS13350.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439599	0.63067	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.33865	1.39	5.93	2.97	0.34412	5.93	2.97	0.34412	.	0.104334	0.64402	D	0.000003	T	0.45558	0.1348	L	0.53249	1.67	0.39346	D	0.965676	D	0.63046	0.992	P	0.60682	0.878	T	0.31024	-0.9958	10	0.33940	T	0.23	-35.7483	8.0908	0.30799	0.0:0.6743:0.0:0.3257	.	142	P31431	SDC4_HUMAN	D	142;70	ENSP00000361818:E142D	ENSP00000361818:E142D	E	-	3	2	2	SDC4	43392439	43392439	0.942000	0.31987	1.000000	0.80357	0.843000	0.47879	0.009000	0.13219	0.407000	0.25591	-0.126000	0.14955	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.180657	1	0.170000	NM_002999			74	72		285	281	1		1	1		0	0	87	0		1	1	0	193	0	453	0	74	285
SDC4	6385	broad.mit.edu	37	20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	95					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)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532			T	ROS1	NSCLC																																	ENST00000372733.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		20	20q12	20q12	6385	T	syndecan 4				E	E	ROS1		NSCLC	SDC4/ROS1(7)	0				5						c.(283-285)tCt>tAt		syndecan 4							83.0	71.0	75.0					20																	43959167		2203	4300	6503	SO:0001583	missense	6385	0	0					g.chr20:43959167G>T	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.284C>A	chr20.hg19:g.43959167G>T	ENSP00000361818:p.Ser95Tyr	0					SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	p.S95Y	NM_002999.3	NP_002990.2	1	2	3	1.995265	P31431	SDC4_HUMAN		4	323	-		Myeloproliferative disorder(115;0.0122)	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	1	1	hg19	c.284C>A	CCDS13350.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094382	0.36952	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.31769	1.48	5.68	4.73	0.59995	5.68	4.73	0.59995	.	0.571570	0.15256	N	0.272065	T	0.24431	0.0592	N	0.14661	0.345	0.09310	N	1	P	0.47545	0.897	P	0.48571	0.582	T	0.06127	-1.0844	10	0.62326	D	0.03	-1.355	7.81	0.29226	0.0825:0.0:0.7478:0.1697	.	95	P31431	SDC4_HUMAN	Y	95;23	ENSP00000361818:S95Y	ENSP00000361818:S95Y	S	-	2	0	0	SDC4	43392581	43392581	0.259000	0.24043	0.943000	0.38184	0.300000	0.27592	2.058000	0.41374	1.403000	0.46800	0.561000	0.74099	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_002999			38	38		182	180	1		1	1		0	0	43	0		1	1	0	179	0	486	0	38	182
TP53TG5	27296	broad.mit.edu	37	20	44004154	44004154	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44004154T>G	ENST00000372726.3	-	4	449	c.293A>C	c.(292-294)gAa>gCa	p.E98A	TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.E82A|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	98					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAACTCTTCATTATTTTG	0.498																																						ENST00000372726.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(292-294)gAa>gCa		TP53 target 5							88.0	97.0	94.0					20																	44004154		2202	4299	6501	SO:0001583	missense	27296	0	0					g.chr20:44004154T>G	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.293A>C	chr20.hg19:g.44004154T>G	ENSP00000361811:p.Glu98Ala	0					SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.E82A|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'UTR	p.E98A	NM_014477.2	NP_055292.1	1	2	3	1.995265	Q9Y2B4	T53G5_HUMAN		4	449	-				Missense_Mutation	SNP	ENST00000372726.3	1	0	hg19	c.293A>C	CCDS13352.1	1	.	.	.	.	.	.	.	.	.	.	T	7.551	0.662723	0.14645	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.15372	2.43;2.43	4.22	-4.18	0.03846	4.22	-4.18	0.03846	.	1.781260	0.02240	N	0.065655	T	0.12263	0.0298	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.20009	-1.0288	10	0.25751	T	0.34	4.3742	4.5476	0.12088	0.1337:0.0885:0.5426:0.2351	.	98	Q9Y2B4	T53G5_HUMAN	A	98;82	ENSP00000361811:E98A;ENSP00000438374:E82A	ENSP00000361811:E98A	E	-	2	0	0	TP53TG5	43437568	43437568	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.001000	0.12947	-0.867000	0.04063	-0.313000	0.08912	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	1	0	1		2	2	2	0		0	0	101		101	102	1	2.060000	-20.000000	1	0.170000	NM_014477			149	154		567	554	1		1	0		0	0	101	0		1	1.950456e-01	0	0	0	4	0	149	567
DBNDD2	55861	broad.mit.edu	37	20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372720.3	+	2	569	c.338G>A	c.(337-339)cGc>cAc	p.R113H	TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372712.2_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	113					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547																																						ENST00000372720.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(337-339)cGc>cAc		dysbindin (dystrobrevin binding protein 1) domain containing 2							62.0	66.0	65.0					20																	44037151		1873	4102	5975	SO:0001583	missense	55861	1	120828	27				g.chr20:44037151G>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.338G>A	chr20.hg19:g.44037151G>A	ENSP00000361805:p.Arg113His	0					SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372712.2_Missense_Mutation_p.R15H	p.R113H	NM_018478.3	NP_060948.3	1	2	3	1.995265	Q9BQY9	DBND2_HUMAN		2	569	+		Myeloproliferative disorder(115;0.0122)	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	1	1	hg19	c.338G>A	CCDS56193.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.868796|4.868796	0.91587|0.91587	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	4.65|4.65	0.58169|0.58169	5.61|5.61	4.65|4.65	0.58169|0.58169	.|.	.|0.142639	.|0.45606	.|D	.|0.000356	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62723|0.62723	1.935|1.935	0.38404|0.38404	D|D	0.945735|0.945735	.|B;B	.|0.31351	.|0.155;0.32	.|B;B	.|0.20955	.|0.022;0.032	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.54805	.|T	.|0.06	.|.	7.207|7.207	0.25913|0.25913	0.1654:0.0:0.8346:0.0|0.1654:0.0:0.8346:0.0	.|.	.|15;113	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	T|H	75|15;15;15;113;15;15;15;117	.|ENSP00000361808:R15H;ENSP00000361807:R15H;ENSP00000349822:R15H;ENSP00000361805:R113H;ENSP00000361802:R15H;ENSP00000354250:R15H;ENSP00000361797:R15H;ENSP00000361795:R117H	.|ENSP00000349822:R15H	A|R	+|+	1|2	0|0	0|0	DBNDD2|DBNDD2	43470565|43470565	43470565|43470565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	5.342000|5.342000	0.65970|0.65970	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GCC|CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-3.484541	1	0.170000	NM_018478			113	111		477	469	1		1	1		0	0	84	0		1	1	0	72	0	180	0	113	477
WFDC3	140686	broad.mit.edu	37	20	44405742	44405742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000243938.4	-	5	548	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|RNU6ATAC38P_ENST00000408119.1_RNA	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	155	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562																																						ENST00000243938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(463-465)ggC>ggT		WAP four-disulfide core domain 3							60.0	52.0	55.0					20																	44405742		2203	4300	6503	SO:0001819	synonymous_variant	140686	0	0					g.chr20:44405742G>A	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.465C>T	chr20.hg19:g.44405742G>A		0					WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron|RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000481847.1_Intron	p.G155G	NM_080614.1	NP_542181.1	1	2	3	1.995265	Q8IUB2	WFDC3_HUMAN		5	548	-		Myeloproliferative disorder(115;0.0122)	A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Silent	SNP	ENST00000243938.4	1	1	hg19	c.465C>T	CCDS33478.1	1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278801	0.10458	.	.	ENSG00000124116	ENST00000337205	.	.	.	4.62	-5.88	0.02290	4.62	-5.88	0.02290	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.44966	D	0.99798	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-18.3447	0.1543	0.00096	0.3196:0.237:0.2028:0.2406	.	.	.	.	V	149	.	.	A	-	2	0	0	WFDC3	43839149	43839149	0.017000	0.18338	0.095000	0.20976	0.737000	0.42083	-1.363000	0.02592	-0.847000	0.04168	-0.137000	0.14449	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.355311	1	0.170000				55	51		208	206	1		1	0		0	0	56	0		1	0	0	0	0	1	0	55	208
DNTTIP1	116092	broad.mit.edu	37	20	44430041	44430041	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	148						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTTCTTTTAGCGTGGCCGTCA	0.522																																						ENST00000372622.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(442-444)Cgt>Tgt		deoxynucleotidyltransferase, terminal, interacting protein 1							98.0	93.0	95.0					20																	44430041		2203	4300	6503	SO:0001630	splice_region_variant	116092	1	121412	30				g.chr20:44430041C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.442-1C>T	chr20.hg19:g.44430041C>T		0						p.R148C	NM_052951.2	NP_443183.1	1	2	3	1.995265	Q9H147	TDIF1_HUMAN		6	510	+		Myeloproliferative disorder(115;0.0122)	B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	1	0	hg19	c.442C>T	CCDS13369.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970557|3.970557	0.74246|0.74246	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622;ENST00000415790	.|T;T	.|0.52057	.|0.8;0.68	6.06|6.06	5.08|5.08	0.68730|0.68730	6.06|6.06	5.08|5.08	0.68730|0.68730	.|.	.|0.165435	.|0.46758	.|D	.|0.000273	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.60672|0.60672	-0.7217|-0.7217	5|9	.|.	.|.	.|.	-10.899|-10.899	13.2985|13.2985	0.60311|0.60311	0.2813:0.7187:0.0:0.0|0.2813:0.7187:0.0:0.0	.|.	.|148	.|Q9H147	.|TDIF1_HUMAN	V|C	98|148;108	.|ENSP00000361705:R148C;ENSP00000392509:R108C	.|.	A|R	+|+	2|1	0|0	0|0	DNTTIP1|DNTTIP1	43863448|43863448	43863448|43863448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	2.741000|2.741000	0.47426|0.47426	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	1	0	1		2	2	2	0		0	0	99		99	96	1	2.060000	-20.000000	1	0.170000	NM_052951	Missense_Mutation		89	90		415	408	1		1	1		0	0	99	0		1	1	0	51	0	176	0	89	415
TNNC2	7125	broad.mit.edu	37	20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372555.3	-	4	367	c.275G>T	c.(274-276)aGc>aTc	p.S92I	TNNC2_ENST00000372557.1_Missense_Mutation_p.S77I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	92	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CTCCTCCTCGCTCTTCCCTTT	0.657																																						ENST00000372555.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(274-276)aGc>aTc		troponin C type 2 (fast)	Felodipine(DB01023)						70.0	65.0	66.0					20																	44452970		2203	4300	6503	SO:0001583	missense	7125	0	0					g.chr20:44452970C>A		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.275G>T	chr20.hg19:g.44452970C>A	ENSP00000361636:p.Ser92Ile	0					TNNC2_ENST00000372557.1_Missense_Mutation_p.S77I	p.S92I	NM_003279.2	NP_003270.1	1	2	3	1.995265	P02585	TNNC2_HUMAN		4	367	-		Myeloproliferative disorder(115;0.0122)	Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	1	1	hg19	c.275G>T	CCDS13375.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794949	0.50208	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63744	-0.06;-0.06	4.48	2.39	0.29439	4.48	2.39	0.29439	EF-hand-like domain (1);	0.085611	0.85682	D	0.000000	T	0.56790	0.2009	M	0.63843	1.955	0.53688	D	0.999974	P	0.39060	0.657	B	0.34180	0.177	T	0.66329	-0.5951	10	0.87932	D	0	-21.9345	14.1434	0.65334	0.0:0.5939:0.4061:0.0	.	92	P02585	TNNC2_HUMAN	I	77;92	ENSP00000361638:S77I;ENSP00000361636:S92I	ENSP00000361636:S92I	S	-	2	0	0	TNNC2	43886377	43886377	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.604000	0.36804	1.085000	0.41206	0.544000	0.68410	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_003279			78	77		354	350	1		1	0		0	0	75	0		1	8.799059e-02	0	1	0	2	0	78	354
SNX21	90203	broad.mit.edu	37	20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000491381.1	+	3	405	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	SNX21_ENST00000372542.1_Missense_Mutation_p.R104W|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W|SNX21_ENST00000344780.4_3'UTR|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W			Q969T3	SNX21_HUMAN	sorting nexin family member 21	113					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617																																						ENST00000491381.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(337-339)Cgg>Tgg		sorting nexin family member 21							83.0	82.0	82.0					20																	44463645		2203	4300	6503	SO:0001583	missense	90203	0	0					g.chr20:44463645C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.337C>T	chr20.hg19:g.44463645C>T	ENSP00000418593:p.Arg113Trp	0					TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000372542.1_Missense_Mutation_p.R104W|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W	p.R113W			1	2	3	1.995265	Q969T3	SNX21_HUMAN		3	405	+		Myeloproliferative disorder(115;0.0122)	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	1	1	hg19	c.337C>T	CCDS13377.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132239	0.56828	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.54866	0.63;0.55;0.64	5.25	2.09	0.27110	5.25	2.09	0.27110	.	0.239788	0.33401	N	0.004947	T	0.55401	0.1918	N	0.24115	0.695	0.24096	N	0.995898	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;0.999;1.0;0.999	P;P;P;P;D;P	0.68765	0.809;0.876;0.712;0.809;0.96;0.893	T	0.52917	-0.8511	10	0.87932	D	0	-9.7916	12.2554	0.54621	0.5113:0.4887:0.0:0.0	.	104;104;113;113;113;113	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	W	113;113;113;104;104;104	ENSP00000418593:R113W;ENSP00000344586:R113W;ENSP00000361620:R104W	ENSP00000344586:R113W	R	+	1	2	2	SNX21	43897052	43897052	0.979000	0.34478	0.022000	0.16811	0.267000	0.26476	1.715000	0.37971	0.269000	0.21961	0.563000	0.77884	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_033421			110	110		549	535	1		1	1		0	0	129	0		1	9.999723e-01	0	17	0	59	0	110	549
ACOT8	10005	broad.mit.edu	37	20	44472193	44472193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472193G>T	ENST00000217455.4	-	5	904	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	272					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CATTCATAGAGCATCCAGTGG	0.602																																						ENST00000217455.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.993468	0.990000	1.000000																										0				10						c.(814-816)Ctc>Atc		acyl-CoA thioesterase 8							48.0	39.0	42.0					20																	44472193		2203	4300	6503	SO:0001583	missense	10005	0	0					g.chr20:44472193G>T	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.814C>A	chr20.hg19:g.44472193G>T	ENSP00000217455:p.Leu272Ile	0						p.L272I	NM_005469.3	NP_005460.2	1	2	3	1.995265	O14734	ACOT8_HUMAN		5	904	-		Myeloproliferative disorder(115;0.0122)	O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	0	0	hg19	c.814C>A	CCDS13378.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795666	0.90453	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94263	0.7504	9	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	152;272	E9PRD4;O14734	.;ACOT8_HUMAN	I	272	.	ENSP00000217455:L272I	L	-	1	0	0	ACOT8	43905600	43905600	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.307000	0.78920	2.620000	0.88729	0.655000	0.94253	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.994070	1	0.170000	NM_183386			13	12		85	83	1		1	1		0	0	22	0		9.995800e-01	9.998972e-01	0	27	0	89	0	13	85
ACOT8	10005	broad.mit.edu	37	20	44472353	44472353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	218					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCATGTCGCCCTCGCCTG	0.617																																						ENST00000217455.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(652-654)ggC>ggT		acyl-CoA thioesterase 8							49.0	43.0	45.0					20																	44472353		2203	4300	6503	SO:0001819	synonymous_variant	10005	0	0					g.chr20:44472353G>A	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.654C>T	chr20.hg19:g.44472353G>A		0						p.G218G	NM_005469.3	NP_005460.2	1	2	3	1.995265	O14734	ACOT8_HUMAN		5	744	-		Myeloproliferative disorder(115;0.0122)	O15261|Q17RX4	Silent	SNP	ENST00000217455.4	1	1	hg19	c.654C>T	CCDS13378.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.358941	1	0.170000	NM_183386			50	50		222	219	0		1	1		0	0	46	0		1	1	0	43	0	117	0	50	222
NEURL2	140825	broad.mit.edu	37	20	44519145	44519145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R	RP3-337O18.9_ENST00000607703.1_RNA|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	162	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667																																						ENST00000372518.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(484-486)cgC>cgT		neuralized E3 ubiquitin protein ligase 2							34.0	41.0	39.0					20																	44519145		2202	4294	6496	SO:0001819	synonymous_variant	140825	0	0					g.chr20:44519145G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.486C>T	chr20.hg19:g.44519145G>A		0					CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank	p.R162R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	1	2	3	1.995265	Q9BR09	NEUL2_HUMAN		1	781	-		Myeloproliferative disorder(115;0.0122)	Q3KR34	Silent	SNP	ENST00000372518.4	1	1	hg19	c.486C>T	CCDS13384.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2	0	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				96	96		418	409	1		1	0		0	0	85	0		1	2.380625e-01	0	1	0	4	0	96	418
CTSA	5476	broad.mit.edu	37	20	44521862	44521862	+	Silent	SNP	C	C	T	rs377543110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372459.2	+	6	797	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Silent_p.L220L|CTSA_ENST00000191018.5_Silent_p.L202L|CTSA_ENST00000354880.5_Silent_p.L203L|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	202					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552																																						ENST00000372459.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(604-606)Ctg>Ttg		cathepsin A		C	,,	0,4406		0,0,2203	102.0	88.0	93.0		658,604,607	3.2	1.0	20		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CTSA	NM_000308.2,NM_001127695.1,NM_001167594.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	220/499,202/481,203/482	44521862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5476	1	121412	31				g.chr20:44521862C>T	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.604C>T	chr20.hg19:g.44521862C>T		0					NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Silent_p.L220L|CTSA_ENST00000354880.5_Silent_p.L203L|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Silent_p.L202L	p.L202L			1	2	3	1.995265	P10619	PPGB_HUMAN		6	797	+		Myeloproliferative disorder(115;0.0122)	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Silent	SNP	ENST00000372459.2	1	1	hg19	c.604C>T	CCDS46609.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_000308			45	45		227	223	1		1	1		0	0	58	0		1	1	0	356	0	956	0	45	227
PLTP	5360	broad.mit.edu	37	20	44528125	44528125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000372431.3_Silent_p.V445V			P55058	PLTP_HUMAN	phospholipid transfer protein	445					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)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCACCTCATGCACAAAGTTGA	0.642																																						ENST00000477313.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1333-1335)gtG>gtA		phospholipid transfer protein							115.0	89.0	98.0					20																	44528125		2203	4300	6503	SO:0001819	synonymous_variant	5360	0	0					g.chr20:44528125C>T	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.1335G>A	chr20.hg19:g.44528125C>T		0					PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000372431.3_Silent_p.V445V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000372420.1_Silent_p.V357V	p.V445V			1	2	3	1.995265	P55058	PLTP_HUMAN		14	1929	-		Myeloproliferative disorder(115;0.0122)	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	1	1	hg19	c.1335G>A	CCDS13386.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_006227			70	70		346	341	1		1	1		0	0	77	0		1	1	0	22	0	609	0	70	346
PCIF1	63935	broad.mit.edu	37	20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	394					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627																																						ENST00000372409.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(1180-1182)gCc>gTc		PDX1 C-terminal inhibiting factor 1							50.0	48.0	49.0					20																	44574362		2203	4300	6503	SO:0001583	missense	63935	0	0					g.chr20:44574362C>T	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.1181C>T	chr20.hg19:g.44574362C>T	ENSP00000361486:p.Ala394Val	0					PCIF1_ENST00000479348.1_3'UTR	p.A394V	NM_022104.3	NP_071387.1	1	2	3	1.995265	Q9H4Z3	PCIF1_HUMAN		12	1545	+			E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	1	1	hg19	c.1181C>T	CCDS13388.1	1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846816	0.32606	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.232564	0.43579	D	0.000542	T	0.24586	0.0596	N	0.02539	-0.55	0.39209	D	0.963286	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.15952	T	0.53	-15.6623	10.6663	0.45732	0.0:0.9124:0.0:0.0876	.	394	Q9H4Z3	PCIF1_HUMAN	V	394	.	ENSP00000361486:A394V	A	+	2	0	0	PCIF1	44007769	44007769	0.976000	0.34144	0.999000	0.59377	0.847000	0.48162	2.471000	0.45127	2.615000	0.88500	0.558000	0.71614	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_022104			46	46		247	241	1		1	1		0	0	67	0		1	9.999993e-01	0	25	0	92	0	46	247
ZNF335	63925	broad.mit.edu	37	20	44582471	44582471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	853					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642																																						ENST00000322927.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2557-2559)ggC>ggT		zinc finger protein 335							56.0	49.0	51.0					20																	44582471		2203	4300	6503	SO:0001819	synonymous_variant	63925	5	121412	33				g.chr20:44582471G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2559C>T	chr20.hg19:g.44582471G>A		0					ZNF335_ENST00000426788.1_Silent_p.G698G	p.G853G	NM_022095.3	NP_071378.1	1	2	3	1.995265	Q9H4Z2	ZN335_HUMAN		18	2659	-		Myeloproliferative disorder(115;0.0122)	B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	1	1	hg19	c.2559C>T	CCDS13389.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.261192	1	0.170000	NM_022095			38	37		151	150	1		1	1		0	0	54	0		1	9.939015e-01	0	13	0	22	0	38	151
ZNF335	63925	broad.mit.edu	37	20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	624					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552																																						ENST00000322927.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999880	0.990000	1.000000																										0				51						c.(1870-1872)gaG>gaT		zinc finger protein 335							85.0	100.0	95.0					20																	44588995		2203	4300	6503	SO:0001583	missense	63925	0	0					g.chr20:44588995C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1872G>T	chr20.hg19:g.44588995C>A	ENSP00000325326:p.Glu624Asp	0					ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	p.E624D	NM_022095.3	NP_071378.1	1	2	3	1.995265	Q9H4Z2	ZN335_HUMAN		14	1972	-		Myeloproliferative disorder(115;0.0122)	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	1	1	hg19	c.1872G>T	CCDS13389.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254580	0.39896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.27720	1.65;1.65	5.37	3.41	0.39046	5.37	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.24115	0.695	0.51482	D	0.999921	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.06023	-1.0850	10	0.24483	T	0.36	-27.9562	11.7575	0.51884	0.0:0.8556:0.0:0.1444	.	469;624	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	624;401;469	ENSP00000325326:E624D;ENSP00000397098:E469D	ENSP00000243961:E401D	E	-	3	2	2	ZNF335	44022402	44022402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.980000	0.29513	1.511000	0.48818	0.650000	0.86243	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1		2	2	2	0		0	0	65		65	62	1	2.060000	-20.000000	1	0.170000	NM_022095			34	35		210	208	1		1	1		0	0	65	0		1	9.436935e-01	0	13	0	19	0	34	210
ZNF335	63925	broad.mit.edu	37	20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000494955.1_5'Flank|ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	400					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637																																						ENST00000322927.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.986827	0.990000	1.000000																										0				51						c.(1198-1200)Ctg>Atg		zinc finger protein 335							53.0	49.0	51.0					20																	44592534		2203	4300	6503	SO:0001583	missense	63925	0	0					g.chr20:44592534G>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1198C>A	chr20.hg19:g.44592534G>T	ENSP00000325326:p.Leu400Met	0					ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M|ZNF335_ENST00000494955.1_5'Flank	p.L400M	NM_022095.3	NP_071378.1	1	2	3	1.995265	Q9H4Z2	ZN335_HUMAN		8	1298	-		Myeloproliferative disorder(115;0.0122)	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	1	1	hg19	c.1198C>A	CCDS13389.1	1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902203	0.17760	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.12;2.98	4.43	2.4	0.29515	4.43	2.4	0.29515	.	0.911529	0.09339	N	0.815734	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	1	P;P	0.41848	0.763;0.651	P;B	0.47528	0.549;0.241	T	0.34502	-0.9826	10	0.35671	T	0.21	-2.7554	7.4038	0.26979	0.2087:0.0:0.7913:0.0	.	245;400	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	400;177;245	ENSP00000325326:L400M;ENSP00000397098:L245M	ENSP00000243961:L177M	L	-	1	2	2	ZNF335	44025941	44025941	0.001000	0.12720	0.047000	0.18901	0.374000	0.29953	0.760000	0.26475	1.077000	0.40990	0.555000	0.69702	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_022095			32	32		287	286	1		1	1		0	0	52	0		1	8.644832e-01	0	8	0	26	0	32	287
ZNF335	63925	broad.mit.edu	37	20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000494955.1_5'Flank|ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	33					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731																																						ENST00000322927.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				51						c.(97-99)Gaa>Taa		zinc finger protein 335							6.0	8.0	7.0					20																	44599953		2100	4143	6243	SO:0001587	stop_gained	63925	0	0					g.chr20:44599953C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.97G>T	chr20.hg19:g.44599953C>A	ENSP00000325326:p.Glu33*	0					ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	p.E33*	NM_022095.3	NP_071378.1	1	2	3	1.995265	Q9H4Z2	ZN335_HUMAN		2	197	-		Myeloproliferative disorder(115;0.0122)	B4DLG7|Q548D0|Q9H684	Nonsense_Mutation	SNP	ENST00000322927.2	0	1	hg19	c.97G>T	CCDS13389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.966576|6.966576	0.97967|0.97967	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000243961|ENST00000322927	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.52906	.|T	.|0.07	.|-15.8841	15.5037|15.5037	0.75722|0.75722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|ENSP00000325326:E33X	.|E	-|-	.|1	.|0	.|0	ZNF335|ZNF335	44033360|44033360	44033360|44033360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.545000|6.545000	0.73883|0.73883	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_022095			21	21		81	79	0		1	0		0	0	10	0		9.999987e-01	0	0	0	0	1	0	21	81
MMP9	4318	broad.mit.edu	37	20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A	rs200118434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	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)	677					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)			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)	TGCCAGGACCGCTTCTACTGG	0.522																																						ENST00000372330.3	1.000000	0.350000	7.600000e-01	4.600000e-01	0.590000	0.614960	0.590000	0.570000																										0				46						c.(2029-2031)cGc>cAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)						116.0	101.0	106.0					20																	44644913		2203	4300	6503	SO:0001583	missense	4318	0	0					g.chr20:44644913G>A		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.2030G>A	chr20.hg19:g.44644913G>A	ENSP00000361405:p.Arg677His	0					RP11-465L10.10_ENST00000535913.1_RNA	p.R677H	NM_004994.2	NP_004985.2	1	2	3	1.995265	P14780	MMP9_HUMAN		13	2049	+		Myeloproliferative disorder(115;0.0122)	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	1	1	hg19	c.2030G>A	CCDS13390.1	0	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829338	0.71258	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.03035	4.07	4.59	0.258	0.15578	4.59	0.258	0.15578	Hemopexin/matrixin (2);	0.810139	0.11279	N	0.580598	T	0.03305	0.0096	L	0.35723	1.085	0.34728	D	0.729424	P	0.51147	0.942	B	0.42112	0.376	T	0.54344	-0.8308	10	0.42905	T	0.14	.	4.3195	0.11009	0.2953:0.0:0.5408:0.1639	.	677	P14780	MMP9_HUMAN	H	677;247	ENSP00000361405:R677H	ENSP00000361405:R677H	R	+	2	0	0	MMP9	44078320	44078320	0.859000	0.29813	0.981000	0.43875	0.972000	0.66771	1.385000	0.34408	0.535000	0.28714	0.650000	0.86243	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.018744	1	0.170000				18	18		352	346	0		1	0		0	0	78	0		9.999807e-01	9.747150e-01	0	0	0	120	0	18	352
SLC12A5	57468	broad.mit.edu	37	20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000454036.2	+	8	993	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	315					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582																																						ENST00000454036.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(943-945)cGc>cAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						92.0	84.0	86.0					20																	44669988		2203	4300	6503	SO:0001583	missense	57468	0	0					g.chr20:44669988G>A	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.944G>A	chr20.hg19:g.44669988G>A	ENSP00000387694:p.Arg315His	0					SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	p.R315H	NM_001134771.1	NP_001128243.1	1	2	3	1.995265	Q9H2X9	S12A5_HUMAN		8	993	+		Myeloproliferative disorder(115;0.0122)	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	1	1	hg19	c.944G>A	CCDS46610.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.188788	0.94923	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.69306	-0.39;-0.39	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.76328	2.33	0.80722	D	1	D;D	0.59357	0.985;0.968	P;B	0.49561	0.615;0.429	T	0.73902	-0.3836	10	0.33141	T	0.24	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	315;292	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	315;292	ENSP00000387694:R315H;ENSP00000243964:R292H	ENSP00000243964:R292H	R	+	2	0	0	SLC12A5	44103395	44103395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.457000	0.83068	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.946305	1	0.170000				57	55		268	260	1		1			0	0	50	1		1	0	0	0	0	0	0	57	268
SLC12A5	57468	broad.mit.edu	37	20	44671804	44671804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000454036.2	+	9	1197	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	383					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACCTCTGGAGCTCCTACCTG	0.602																																						ENST00000454036.2	1.000000	0.100000	2.400000e-01	1.300000e-01	0.170000	0.220534	0.170000	0.170000																										0				80						c.(1147-1149)aGc>aAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						153.0	141.0	145.0					20																	44671804		2203	4300	6503	SO:0001583	missense	57468	0	0					g.chr20:44671804G>A	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.1148G>A	chr20.hg19:g.44671804G>A	ENSP00000387694:p.Ser383Asn	0					SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	p.S383N	NM_001134771.1	NP_001128243.1	1	2	3	1.995265	Q9H2X9	S12A5_HUMAN		9	1197	+		Myeloproliferative disorder(115;0.0122)	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	0	1	hg19	c.1148G>A	CCDS46610.1	0	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806764	0.50421	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68624	-0.34;-0.34	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.052501	0.85682	D	0.000000	T	0.64461	0.2600	M	0.73430	2.235	0.80722	D	1	B;B	0.30727	0.118;0.292	B;B	0.33750	0.072;0.169	T	0.59658	-0.7413	10	0.13470	T	0.59	.	12.5309	0.56115	0.0:0.1678:0.8322:0.0	.	383;360	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	383;360	ENSP00000387694:S383N;ENSP00000243964:S360N	ENSP00000243964:S360N	S	+	2	0	0	SLC12A5	44105211	44105211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.158000	0.71851	2.470000	0.83445	0.462000	0.41574	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0	0	1		2	2	2	0		0	0	236		236	233	1	2.060000	-3.143021	1	0.170000				16	16		1081	1053	0		1			0	0	236	0		9.999150e-01	0	0	0	0	0	0	16	1081
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000454036.2	+	9	1309	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567																																						ENST00000454036.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1258-1260)acC>acA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						297.0	251.0	266.0					20																	44671916		2203	4300	6503	SO:0001819	synonymous_variant	57468	0	0					g.chr20:44671916C>A	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.1260C>A	chr20.hg19:g.44671916C>A		0					SLC12A5_ENST00000243964.3_Silent_p.T397T	p.T420T	NM_001134771.1	NP_001128243.1	1	2	3	1.995265	Q9H2X9	S12A5_HUMAN		9	1309	+		Myeloproliferative disorder(115;0.0122)	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	1	1	hg19	c.1260C>A	CCDS46610.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	1		2	2	2	0		0	0	269		269	267	1	2.060000	-20.000000	1	0.170000				232	226		1152	1133	1		1			0	0	269	0		1	0	0	0	0	0	0	232	1152
SLC12A5	57468	broad.mit.edu	37	20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000454036.2	+	18	2376	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	776					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607																																						ENST00000454036.2	1.000000	0.290000	5.800000e-01	3.600000e-01	0.460000	0.490953	0.460000	0.450000																										0				80						c.(2326-2328)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						113.0	103.0	106.0					20																	44680390		2203	4300	6503	SO:0001583	missense	57468	0	0					g.chr20:44680390G>A	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.2327G>A	chr20.hg19:g.44680390G>A	ENSP00000387694:p.Gly776Asp	0					SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	p.G776D	NM_001134771.1	NP_001128243.1	1	2	3	1.995265	Q9H2X9	S12A5_HUMAN		18	2376	+		Myeloproliferative disorder(115;0.0122)	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	1	1	hg19	c.2327G>A	CCDS46610.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340323	0.81911	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.97186	-4.28;-4.28	4.19	4.19	0.49359	4.19	4.19	0.49359	.	0.136206	0.50627	D	0.000118	D	0.98406	0.9470	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.68192	0.956;0.926	D	0.99201	1.0873	10	0.66056	D	0.02	.	16.0375	0.80640	0.0:0.0:1.0:0.0	.	776;753	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	776;753	ENSP00000387694:G776D;ENSP00000243964:G753D	ENSP00000243964:G753D	G	+	2	0	0	SLC12A5	44113797	44113797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.978000	0.63799	2.302000	0.77476	0.462000	0.41574	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-4.288032	1	0.170000				22	22		555	547	0		1			0	0	100	0		9.999986e-01	0	0	0	0	0	0	22	555
NCOA5	57727	broad.mit.edu	37	20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	506	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAAGCCCTTGGGAAGGAGCC	0.552																																						ENST00000290231.6	1.000000	0.200000	5.300000e-01	2.800000e-01	0.380000	0.423846	0.380000	0.370000																										0				21						c.(1516-1518)Caa>Aaa		nuclear receptor coactivator 5							49.0	51.0	51.0					20																	44691163		2203	4300	6503	SO:0001583	missense	57727	0	0					g.chr20:44691163G>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1516C>A	chr20.hg19:g.44691163G>T	ENSP00000290231:p.Gln506Lys	0						p.Q506K	NM_020967.2	NP_066018.1	1	2	3	1.995265	Q9HCD5	NCOA5_HUMAN		8	1680	-		Myeloproliferative disorder(115;0.0122)	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	1	1	hg19	c.1516C>A	CCDS13392.1	0	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765540	0.31228	.	.	ENSG00000124160	ENST00000290231	T	0.50548	0.74	5.54	4.59	0.56863	5.54	4.59	0.56863	.	0.457422	0.24983	N	0.034056	T	0.42653	0.1212	L	0.34521	1.04	0.45914	D	0.998751	D	0.54964	0.969	P	0.49361	0.608	T	0.23048	-1.0199	10	0.07325	T	0.83	-0.4782	15.7475	0.77958	0.0:0.1365:0.8635:0.0	.	506	Q9HCD5	NCOA5_HUMAN	K	506	ENSP00000290231:Q506K	ENSP00000290231:Q506K	Q	-	1	0	0	NCOA5	44124570	44124570	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.646000	0.74348	1.567000	0.49668	-0.165000	0.13383	CAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.122313	1	0.170000	NM_020967			11	11		341	332	0		1	1		0	0	57	0		9.981487e-01	7.543641e-01	0	2	0	83	0	11	341
NCOA5	57727	broad.mit.edu	37	20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCCGCTCTCGCAGGTAGTTG	0.577																																						ENST00000290231.6	1.000000	0.230000	6.500000e-01	3.300000e-01	0.460000	0.502884	0.460000	0.440000																										0				21						c.(1102-1104)Cga>Tga		nuclear receptor coactivator 5							74.0	66.0	68.0					20																	44692047		2203	4300	6503	SO:0001587	stop_gained	57727	0	0					g.chr20:44692047G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1102C>T	chr20.hg19:g.44692047G>A	ENSP00000290231:p.Arg368*	0						p.R368*	NM_020967.2	NP_066018.1	1	2	3	1.995265	Q9HCD5	NCOA5_HUMAN		7	1266	-		Myeloproliferative disorder(115;0.0122)	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	0	1	hg19	c.1102C>T	CCDS13392.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.534672	0.96460	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.102256	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.982	13.8224	0.63331	0.0:0.0:0.8372:0.1628	.	.	.	.	X	368	.	ENSP00000290231:R368X	R	-	1	2	2	NCOA5	44125454	44125454	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.055000	0.41345	2.816000	0.96949	0.561000	0.74099	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-11.341940	1	0.170000	NM_020967			10	10		255	250	0		1	0		0	0	48	0		9.967339e-01	6.659063e-01	0	0	0	58	0	10	255
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R32*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532																																						ENST00000290231.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R32*(1)	large_intestine(1)	21						c.(94-96)Cga>Tga		nuclear receptor coactivator 5							101.0	100.0	100.0					20																	44699120		2203	4300	6503	SO:0001587	stop_gained	57727	0	0					g.chr20:44699120G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.94C>T	chr20.hg19:g.44699120G>A	ENSP00000290231:p.Arg32*	0						p.R32*	NM_020967.2	NP_066018.1	1	2	3	1.995265	Q9HCD5	NCOA5_HUMAN		3	258	-		Myeloproliferative disorder(115;0.0122)	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	0	1	hg19	c.94C>T	CCDS13392.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	2	NCOA5	44132527	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-3.518014	1	0.170000	NM_020967			139	136		576	570	1		1	1		0	0	127	0		1	9.987389e-01	0	2	0	41	0	139	576
CD40	958	broad.mit.edu	37	20	44756855	44756855	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44756855T>C	ENST00000372285.3	+	7	710	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.G192G	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	213					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)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TTGGTGCTGGTCTTTATCAGT	0.542									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372285.3	1.000000	0.210000	4.700000e-01	2.700000e-01	0.360000	0.397976	0.360000	0.350000																										0				10						c.(637-639)gTc>gCc		CD40 molecule, TNF receptor superfamily member 5							162.0	144.0	150.0					20																	44756855		2203	4300	6503	SO:0001583	missense	958	0	0		Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	g.chr20:44756855T>C	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.638T>C	chr20.hg19:g.44756855T>C	ENSP00000361359:p.Val213Ala	0		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000372276.3_Silent_p.G192G|CD40_ENST00000489304.1_3'UTR	p.V213A	NM_001250.4	NP_001241.1	1	2	3	1.995265	P25942	TNR5_HUMAN		7	710	+		Myeloproliferative disorder(115;0.0122)	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	1	1	hg19	c.638T>C	CCDS13393.1	0	.	.	.	.	.	.	.	.	.	.	T	6.980	0.550845	0.13374	.	.	ENSG00000101017	ENST00000372285	T	0.74737	-0.87	4.59	-1.44	0.08856	4.59	-1.44	0.08856	.	2587.460000	0.00166	N	0.000001	T	0.52468	0.1736	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	9	0.18276	T	0.48	-0.4864	1.3084	0.02092	0.164:0.15:0.1661:0.5199	.	213	P25942	TNR5_HUMAN	A	213	ENSP00000361359:V213A	ENSP00000361359:V213A	V	+	2	0	0	CD40	44190262	44190262	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.453000	0.06778	0.064000	0.16427	0.402000	0.26972	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	0	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.184454	1	0.170000	NM_001250			16	14		523	494	0		1	1		0	0	75	0		9.998931e-01	9.576123e-01	0	13	0	162	0	16	523
CDH22	64405	broad.mit.edu	37	20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	661					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGCATGTCTTCATCCTCGTC	0.627																																						ENST00000372262.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				44						c.(1981-1983)gAa>gGa		cadherin 22, type 2							46.0	47.0	47.0					20																	44803650		2159	4261	6420	SO:0001583	missense	64405	0	0					g.chr20:44803650T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1982A>G	chr20.hg19:g.44803650T>C	ENSP00000361336:p.Glu661Gly	0					CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	p.E661G	NM_021248.1	NP_067071.1	1	2	3	1.995265	Q9UJ99	CAD22_HUMAN		11	2382	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	1	1	hg19	c.1982A>G	CCDS13395.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132480	0.77662	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.79352	-1.26;-1.26	4.03	4.03	0.46877	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71296	2.17	0.44261	D	0.997118	D	0.89917	1.0	D	0.91635	0.999	D	0.87302	0.2306	10	0.87932	D	0	.	11.9296	0.52839	0.0:0.0:0.0:1.0	.	661	Q9UJ99	CAD22_HUMAN	G	661	ENSP00000361336:E661G;ENSP00000437790:E661G	ENSP00000361336:E661G	E	-	2	0	0	CDH22	44237057	44237057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.020000	0.57189	1.691000	0.51100	0.460000	0.39030	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_021248			50	49		268	263	1		1	0		0	0	56	0		1	1.230418e-01	0	0	0	4	0	50	268
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	G	A	rs374703253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587																																						ENST00000372262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1576-1578)gaC>gaT		cadherin 22, type 2		G		0,4406		0,0,2203	73.0	69.0	70.0		1578	-5.2	1.0	20		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		526/829	44815312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64405	7	121412	38				g.chr20:44815312G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1578C>T	chr20.hg19:g.44815312G>A		0					CDH22_ENST00000537909.1_Silent_p.D526D	p.D526D	NM_021248.1	NP_067071.1	1	2	3	1.995265	Q9UJ99	CAD22_HUMAN		9	1978	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	1	1	hg19	c.1578C>T	CCDS13395.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_021248			67	66		236	228	1		1	0		0	0	59	0		1	4.004377e-01	0	0	0	6	0	67	236
CDH22	64405	broad.mit.edu	37	20	44815474	44815474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCCTGGCTTGGCATCCT	0.617																																						ENST00000372262.3	1.000000	0.360000	6.500000e-01	4.400000e-01	0.530000	0.557916	0.530000	0.520000																										0				44						c.(1534-1536)aaG>aaA		cadherin 22, type 2							148.0	133.0	138.0					20																	44815474		2203	4300	6503	SO:0001819	synonymous_variant	64405	0	0					g.chr20:44815474C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1536G>A	chr20.hg19:g.44815474C>T		0					CDH22_ENST00000537909.1_Silent_p.K512K	p.K512K	NM_021248.1	NP_067071.1	1	2	3	1.995265	Q9UJ99	CAD22_HUMAN		8	1936	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	1	1	hg19	c.1536G>A	CCDS13395.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-5.001744	1	0.170000	NM_021248			31	31		668	661	0		1	0		0	0	113	0		1	0	0	0	0	1	0	31	668
CDH22	64405	broad.mit.edu	37	20	44828116	44828116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44828116G>T	ENST00000372262.3	-	7	1769	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGCGGTCCAGCCCCTTGCCA	0.652																																						ENST00000372262.3	1.000000	0.180000	7.300000e-01	3.000000e-01	0.470000	0.518259	0.470000	0.430000																										0				44						c.(1369-1371)Ctg>Atg		cadherin 22, type 2							53.0	41.0	45.0					20																	44828116		2203	4300	6503	SO:0001583	missense	64405	0	0					g.chr20:44828116G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1369C>A	chr20.hg19:g.44828116G>T	ENSP00000361336:p.Leu457Met	0					CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	p.L457M	NM_021248.1	NP_067071.1	1	2	3	1.995265	Q9UJ99	CAD22_HUMAN		7	1769	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	0	1	hg19	c.1369C>A	CCDS13395.1	0	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659496	0.47467	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.74842	-0.88;-0.88	4.47	4.47	0.54385	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.89476	0.6726	H	0.94264	3.515	0.49130	D	0.999754	D	0.89917	1.0	D	0.97110	1.0	D	0.92205	0.5771	10	0.87932	D	0	.	14.8113	0.69996	0.0:0.0:1.0:0.0	.	457	Q9UJ99	CAD22_HUMAN	M	457	ENSP00000361336:L457M;ENSP00000437790:L457M	ENSP00000361336:L457M	L	-	1	2	2	CDH22	44261523	44261523	0.992000	0.36948	0.998000	0.56505	0.060000	0.15804	2.029000	0.41098	2.471000	0.83476	0.555000	0.69702	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-7.940484	1	0.170000	NM_021248			5	5		131	126	0		1	0		0	0	22	0		9.324150e-01	2.189553e-03	0	0	0	2	0	5	131
CDH22	64405	broad.mit.edu	37	20	44845469	44845469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000537909.1_Silent_p.P278P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612																																						ENST00000372262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(832-834)ccG>ccA		cadherin 22, type 2							87.0	82.0	84.0					20																	44845469		2203	4300	6503	SO:0001819	synonymous_variant	64405	9	121412	41				g.chr20:44845469C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.834G>A	chr20.hg19:g.44845469C>T		0					CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P278P	p.P278P	NM_021248.1	NP_067071.1	1	2	3	1.995265	Q9UJ99	CAD22_HUMAN		4	1234	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	1	1	hg19	c.834G>A	CCDS13395.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	0		2	2	2	0		0	0	111		111	106	1	2.060000	-20.000000	1	0.170000	NM_021248			81	78		391	383	1		1	0		0	0	111	0		1	5.353263e-01	0	1	0	9	0	81	391
ELMO2	63916	broad.mit.edu	37	20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000445496.2_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	42					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTTGGCAACGACCACCTATG	0.453																																						ENST00000290246.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(124-126)tCg>tTg		engulfment and cell motility 2							163.0	155.0	158.0					20																	45022235		2203	4300	6503	SO:0001583	missense	63916	0	0					g.chr20:45022235G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.125C>T	chr20.hg19:g.45022235G>A	ENSP00000290246:p.Ser42Leu	0					ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L	p.S42L	NM_133171.3	NP_573403.1	1	2	3	1.995265	Q96JJ3	ELMO2_HUMAN		5	319	-		Myeloproliferative disorder(115;0.0122)	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	1	1	hg19	c.125C>T	CCDS13398.1	1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154087	0.57259	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.43;2.43;2.43;2.43;1.83	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	M	0.71581	2.175	0.80722	D	1	P;P	0.42757	0.667;0.789	B;B	0.32928	0.107;0.155	T	0.36553	-0.9743	10	0.72032	D	0.01	-9.6865	16.5031	0.84262	0.0:0.0:1.0:0.0	.	42;42	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	42	ENSP00000290246:S42L;ENSP00000379673:S42L;ENSP00000396519:S42L;ENSP00000326172:S42L;ENSP00000416181:S42L	ENSP00000290246:S42L	S	-	2	0	0	ELMO2	44455642	44455642	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	5.952000	0.70282	2.375000	0.81037	0.491000	0.48974	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	1	0	1		2	2	2	0		0	0	180		180	177	1	2.060000	-20.000000	1	0.170000	NM_022086			162	159		724	711	1		1	1		0	0	180	0		1	9.999613e-01	0	17	0	49	0	162	724
ZNF334	55713	broad.mit.edu	37	20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000347606.4	-	5	499	c.317A>C	c.(316-318)aAa>aCa	p.K106T	ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T|ZNF334_ENST00000457685.2_Missense_Mutation_p.K68T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353																																						ENST00000347606.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(316-318)aAa>aCa		zinc finger protein 334							104.0	87.0	93.0					20																	45131661		2203	4299	6502	SO:0001583	missense	55713	0	0					g.chr20:45131661T>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.317A>C	chr20.hg19:g.45131661T>G	ENSP00000255129:p.Lys106Thr	0					ZNF334_ENST00000457685.2_Missense_Mutation_p.K68T|ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T	p.K106T	NM_018102.4	NP_060572.3	1	2	3	1.995265	Q9HCZ1	ZN334_HUMAN		5	499	-		Myeloproliferative disorder(115;0.0122)	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	1	1	hg19	c.317A>C	CCDS33480.1	1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178949	0.38511	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.10288	3.12;2.89	3.26	-2.47	0.06442	3.26	-2.47	0.06442	.	.	.	.	.	T	0.09113	0.0225	L	0.52905	1.665	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34477	-0.9827	9	0.35671	T	0.21	.	4.577	0.12238	0.0:0.309:0.163:0.528	.	68;106;129	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	68;106	ENSP00000402582:K68T;ENSP00000255129:K106T	ENSP00000255129:K106T	K	-	2	0	0	ZNF334	44565068	44565068	0.001000	0.12720	0.000000	0.03702	0.780000	0.44128	-0.017000	0.12590	-0.707000	0.05022	0.482000	0.46254	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				38	38		172	165	1		1	0		0	0	43	0		1	2.297411e-01	0	0	0	5	0	38	172
SLC13A3	64849	broad.mit.edu	37	20	45188796	45188796	+	Silent	SNP	C	C	T	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000472148.1_Silent_p.L476L	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	558					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)			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)	CCAAACTGAGCAGCAGGACAC	0.557																																						ENST00000279027.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1672-1674)ctG>ctA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						169.0	143.0	152.0					20																	45188796		2203	4300	6503	SO:0001819	synonymous_variant	64849	0	0					g.chr20:45188796C>T	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.1674G>A	chr20.hg19:g.45188796C>T		0					SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000290317.5_Silent_p.L511L	p.L558L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	1	2	3	1.995265	Q8WWT9	S13A3_HUMAN		13	1692	-		Myeloproliferative disorder(115;0.0122)	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	1	1	hg19	c.1674G>A	CCDS13400.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	1	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000				96	95		550	534	1		1	1		0	0	156	0		1	2.821267e-01	0	5	0	2	0	96	550
SLC13A3	64849	broad.mit.edu	37	20	45192140	45192140	+	Silent	SNP	G	G	A	rs560905872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000472148.1_Silent_p.V433V	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	515					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)			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)	AGGAGCAGCCGACTGTGCCCG	0.612																																						ENST00000279027.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1543-1545)gtC>gtT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						48.0	42.0	44.0					20																	45192140		2203	4300	6503	SO:0001819	synonymous_variant	64849	0	0					g.chr20:45192140G>A	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.1545C>T	chr20.hg19:g.45192140G>A		0					SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000290317.5_Silent_p.V468V	p.V515V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	1	2	3	1.995265	Q8WWT9	S13A3_HUMAN		12	1563	-		Myeloproliferative disorder(115;0.0122)	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	1	1	hg19	c.1545C>T	CCDS13400.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				35	34		137	132	1		1	0		0	0	31	0		1	2.778895e-01	0	0	0	5	0	35	137
SLC13A3	64849	broad.mit.edu	37	20	45217805	45217805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45217805G>T	ENST00000279027.4	-	7	1028	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H	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	337					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)			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)	ATACTTGATGGGCCCCAGGTT	0.527																																						ENST00000279027.4	1.000000	0.130000	3.700000e-01	1.900000e-01	0.260000	0.306135	0.260000	0.250000																										0				31						c.(1009-1011)cCc>cAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						95.0	99.0	97.0					20																	45217805		2203	4300	6503	SO:0001583	missense	64849	0	0					g.chr20:45217805G>T	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.1010C>A	chr20.hg19:g.45217805G>T	ENSP00000279027:p.Pro337His	0					SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H	p.P337H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	1	2	3	1.995265	Q8WWT9	S13A3_HUMAN		7	1028	-		Myeloproliferative disorder(115;0.0122)	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	0	1	hg19	c.1010C>A	CCDS13400.1	0	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566279	0.27915	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.13307	3.59;3.59;3.59;3.59;3.59;3.59;3.59;2.62;2.6	5.84	4.88	0.63580	5.84	4.88	0.63580	.	0.091159	0.85682	N	0.000000	T	0.28566	0.0707	M	0.86502	2.82	0.80722	D	1	B;B;B;B	0.27351	0.014;0.006;0.122;0.176	B;B;B;B	0.35413	0.119;0.028;0.125;0.202	T	0.11842	-1.0571	10	0.87932	D	0	-30.0427	14.7177	0.69284	0.0:0.0:0.855:0.145	.	287;290;290;337	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	H	290;290;337;290;287;290;290;250;287	ENSP00000290317:P290H;ENSP00000379648:P290H;ENSP00000279027:P337H;ENSP00000420177:P290H;ENSP00000415852:P287H;ENSP00000419621:P290H;ENSP00000417784:P290H;ENSP00000395095:P250H;ENSP00000361193:P287H	ENSP00000279027:P337H	P	-	2	0	0	SLC13A3	44651212	44651212	1.000000	0.71417	0.946000	0.38457	0.189000	0.23516	5.637000	0.67854	1.457000	0.47850	0.650000	0.86243	CCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-2.600997	1	0.170000				11	11		504	494	0		1	0		0	0	83	0		9.981754e-01	8.129205e-03	0	0	0	6	0	11	504
SLC2A10	81031	broad.mit.edu	37	20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592																																						ENST00000359271.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(163-165)Ctc>Ttc		solute carrier family 2 (facilitated glucose transporter), member 10							72.0	68.0	69.0					20																	45353838		2203	4300	6503	SO:0001583	missense	81031	4	121412	36				g.chr20:45353838C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.163C>T	chr20.hg19:g.45353838C>T	ENSP00000352216:p.Leu55Phe	0						p.L55F	NM_030777.3	NP_110404.1	1	2	3	1.995265	O95528	GTR10_HUMAN		2	413	+		Myeloproliferative disorder(115;0.0122)	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	1	1	hg19	c.163C>T	CCDS13402.1	1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618810	0.46736	.	.	ENSG00000197496	ENST00000359271	T	0.74737	-0.87	4.42	4.42	0.53409	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.85831	0.5788	M	0.85197	2.74	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	10.9873	0.47528	0.0:0.9123:0.0:0.0877	.	55	O95528	GTR10_HUMAN	F	55	ENSP00000352216:L55F	ENSP00000352216:L55F	L	+	1	0	0	SLC2A10	44787245	44787245	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	2.494000	0.45329	2.160000	0.67779	0.407000	0.27541	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				53	51		236	229	1		1	0		0	0	63	0		1	9.545124e-01	0	1	0	24	0	53	236
SLC2A10	81031	broad.mit.edu	37	20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	382					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637																																						ENST00000359271.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999915	0.990000	1.000000																										0				34						c.(1144-1146)Gac>Aac		solute carrier family 2 (facilitated glucose transporter), member 10							68.0	67.0	67.0					20																	45354819		2203	4300	6503	SO:0001583	missense	81031	0	0					g.chr20:45354819G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1144G>A	chr20.hg19:g.45354819G>A	ENSP00000352216:p.Asp382Asn	0						p.D382N	NM_030777.3	NP_110404.1	1	2	3	1.995265	O95528	GTR10_HUMAN		2	1394	+		Myeloproliferative disorder(115;0.0122)	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	1	1	hg19	c.1144G>A	CCDS13402.1	1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495024	0.12702	.	.	ENSG00000197496	ENST00000359271	D	0.81499	-1.5	5.75	-0.0688	0.13754	5.75	-0.0688	0.13754	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.765990	0.01175	N	0.006943	T	0.65112	0.2660	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.16896	T	0.51	5.2667	11.1698	0.48565	0.4681:0.0:0.5319:0.0	.	382	O95528	GTR10_HUMAN	N	382	ENSP00000352216:D382N	ENSP00000352216:D382N	D	+	1	0	0	SLC2A10	44788226	44788226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.638000	0.24674	0.099000	0.17552	-0.126000	0.14955	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000				44	42		290	285	1		1	1		0	0	66	0		1	9.794120e-01	0	7	0	36	0	44	290
EYA2	2139	broad.mit.edu	37	20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	91					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)			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)				CCACCTCCAGCACAAGCCTAT	0.552																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				32						c.(271-273)gCa>gTa		EYA transcriptional coactivator and phosphatase 2							81.0	73.0	76.0					20																	45633697		2203	4300	6503	SO:0001583	missense	2139	0	0					g.chr20:45633697C>T		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.272C>T	chr20.hg19:g.45633697C>T	ENSP00000333640:p.Ala91Val	0					EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	p.A91V	NM_005244.4	NP_005235.3	1	2	3	1.995265	O00167	EYA2_HUMAN		4	646	+		Myeloproliferative disorder(115;0.0241)	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	1	1	hg19	c.272C>T	CCDS13403.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317035	0.81469	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.53;-2.85;-0.74	5.53	4.59	0.56863	5.53	4.59	0.56863	.	0.130472	0.56097	D	0.000026	D	0.92234	0.7537	L	0.56769	1.78	0.46298	D	0.998979	D;P;P;P	0.54964	0.969;0.787;0.825;0.825	P;B;B;B	0.54210	0.745;0.23;0.313;0.294	D	0.91621	0.5311	10	0.62326	D	0.03	-18.7495	8.2618	0.31790	0.0:0.6532:0.2645:0.0823	.	91;91;91;91	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	91;91;91;91;44	ENSP00000333640:A91V;ENSP00000349986:A91V;ENSP00000321590:A91V;ENSP00000395427:A44V	ENSP00000321590:A91V	A	+	2	0	0	EYA2	45067104	45067104	1.000000	0.71417	0.924000	0.36721	0.960000	0.62799	3.109000	0.50345	1.344000	0.45657	0.561000	0.74099	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_005244			46	45		271	264	1		1	0		0	0	64	0		1	5.423136e-01	0	0	0	12	0	46	271
EYA2	2139	broad.mit.edu	37	20	45725724	45725724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	269					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)			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)				TTCATCACAGCGTGTGTTCGT	0.423																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5	1.000000	0.100000	2.900000e-01	1.500000e-01	0.200000	0.251355	0.200000	0.200000																										0				32						c.(805-807)Cgt>Tgt		EYA transcriptional coactivator and phosphatase 2							232.0	209.0	217.0					20																	45725724		2203	4300	6503	SO:0001630	splice_region_variant	2139	1	121412	36				g.chr20:45725724C>T		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.805-1C>T	chr20.hg19:g.45725724C>T		0					EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	p.R269C	NM_005244.4	NP_005235.3	1	2	3	1.995265	O00167	EYA2_HUMAN		9	1179	+		Myeloproliferative disorder(115;0.0241)	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	0	1	hg19	c.805C>T	CCDS13403.1	0	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403005	0.83230	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.87617	2.895	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;1.0;1.0	D	0.92766	0.6228	9	.	.	.	-3.3947	19.773	0.96379	0.0:1.0:0.0:0.0	.	269;269;269;269	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	269;269;269;269;140	ENSP00000333640:R269C;ENSP00000349986:R269C;ENSP00000321590:R269C;ENSP00000395427:R140C	.	R	+	1	0	0	EYA2	45159131	45159131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.677000	0.91161	0.655000	0.94253	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	0	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-2.567708	1	0.170000	NM_005244	Missense_Mutation		12	12		698	678	0		1	0		0	0	130	0		9.989533e-01	7.018863e-03	0	0	0	7	0	12	698
EYA2	2139	broad.mit.edu	37	20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	381				A -> S (in Ref. 7; AAB42065). {ECO:0000305}.	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)			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)				GAGGAAGCTGGCCTTCCGCTA	0.592																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1141-1143)Gcc>Acc		EYA transcriptional coactivator and phosphatase 2							96.0	79.0	85.0					20																	45801458		2203	4300	6503	SO:0001583	missense	2139	0	0					g.chr20:45801458G>A		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.1141G>A	chr20.hg19:g.45801458G>A	ENSP00000333640:p.Ala381Thr	0					EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	p.A381T	NM_005244.4	NP_005235.3	1	2	3	1.995265	O00167	EYA2_HUMAN		12	1515	+		Myeloproliferative disorder(115;0.0241)	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	1	1	hg19	c.1141G>A	CCDS13403.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.719770	0.96839	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82433	-1.61;-1.61;-1.61	5.59	5.59	0.84812	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.997	D	0.94016	0.7288	10	0.87932	D	0	-13.2396	19.5758	0.95444	0.0:0.0:1.0:0.0	.	381;351;381;381	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	381;381;351;351	ENSP00000333640:A381T;ENSP00000349986:A381T;ENSP00000321590:A351T	ENSP00000321590:A351T	A	+	1	0	0	EYA2	45234865	45234865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.755000	0.98912	2.632000	0.89209	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	1	0	1		2	2	2	0		0	0	94		94	80	1	2.060000	-2.331535	0	0.170000	NM_005244			94	85		466	415	1		1	0		0	0	94	0		1	4.642277e-01	0	0	0	9	0	94	466
ZMYND8	23613	broad.mit.edu	37	20	45849995	45849995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000311275.7	-	20	3580	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T	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	1109					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)			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)			TCTCAGCTGACGTCTCCTTCT	0.542																																						ENST00000311275.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3325-3327)acG>acA		zinc finger, MYND-type containing 8							133.0	106.0	115.0					20																	45849995		2203	4300	6503	SO:0001819	synonymous_variant	23613	0	0					g.chr20:45849995C>T	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.3327G>A	chr20.hg19:g.45849995C>T		0					ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000396281.4_Silent_p.T1109T	p.T1109T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	1	2	3	1.995265	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)	20	3580	-			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	Silent	SNP	ENST00000311275.7	1	1	hg19	c.3327G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214812	0.01555	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.73	-11.5	0.00074	5.73	-11.5	0.00074	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.08576	-1.0715	4	.	.	.	-5.7982	1.1673	0.01818	0.1808:0.2182:0.1965:0.4045	.	.	.	.	I	991	.	.	V	-	1	0	0	ZMYND8	45283402	45283402	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.175000	0.00571	-2.813000	0.00347	-2.259000	0.00280	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1		2	2	2	0		0	0	94		94	77	1	2.060000	-20.000000	1	0.170000	NM_183047			72	65		313	290	1		1	1		0	0	94	0		1	1	0	37	0	81	0	72	313
ZMYND8	23613	broad.mit.edu	37	20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000311275.7	-	18	3134	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C	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	961					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)			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)			CTCAGCCTGCGAATCTGGAAG	0.537																																						ENST00000311275.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2881-2883)Cgc>Tgc		zinc finger, MYND-type containing 8							133.0	115.0	121.0					20																	45856021		2203	4300	6503	SO:0001583	missense	23613	1	121412	28				g.chr20:45856021G>A	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.2881C>T	chr20.hg19:g.45856021G>A	ENSP00000312237:p.Arg961Cys	0					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C	p.R961C	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	1	2	3	1.995265	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)	18	3134	-			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	1	1	hg19	c.2881C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940096|2.940096	0.52972|0.52972	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75154|.	0.49;0.49;0.49;-0.91;-0.91;0.49;0.49;0.49;0.49;0.49;0.49;0.36;0.49|.	5.53|5.53	3.6|3.6	0.41247|0.41247	5.53|5.53	3.6|3.6	0.41247|0.41247	.|.	0.120930|.	0.56097|.	N|.	0.000026|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.74258|0.74258	2.255|2.255	0.47123|0.47123	D|D	0.999324|0.999324	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.022;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.003;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.991;0.994;0.997;0.999|.	T|T	0.69859|0.69859	-0.5031|-0.5031	10|5	0.66056|.	D|.	0.02|.	-6.074|-6.074	11.9774|11.9774	0.53100|0.53100	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	829;988;883;890;981;915;910;935;935;961;852;910;909;854;863;961|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	C|L	910;961;829;916;982;935;961;988;961;852;935;883;909|842	ENSP00000354166:R910C;ENSP00000312237:R961C;ENSP00000392964:R829C;ENSP00000262975:R916C;ENSP00000420095:R982C;ENSP00000335537:R935C;ENSP00000379577:R961C;ENSP00000439800:R988C;ENSP00000348246:R961C;ENSP00000396725:R852C;ENSP00000418210:R935C;ENSP00000361093:R883C;ENSP00000443086:R909C|.	ENSP00000262975:R916C|.	R|S	-|-	1|2	0|0	0|0	ZMYND8|ZMYND8	45289428|45289428	45289428|45289428	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.698000|0.698000	0.40448|0.40448	3.652000|3.652000	0.54439|0.54439	0.714000|0.714000	0.32081|0.32081	-0.237000|-0.237000	0.12165|0.12165	CGC|TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.079425	1	0.170000	NM_183047			60	59		334	325	1		1	1		0	0	77	0		1	9.999936e-01	0	34	0	65	0	60	334
ZMYND8	23613	broad.mit.edu	37	20	45867626	45867626	+	Silent	SNP	C	C	T	rs190889041	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	ENST00000311275.7	-	15	2734	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000396281.4_Silent_p.T827T|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000262975.4_Intron	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	827					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)			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)			TTTGGGAGGACGTTTGAAACT	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		15583	0.002		0.0	False		,,,				2504	0.0					ENST00000311275.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2479-2481)acG>acA		zinc finger, MYND-type containing 8							59.0	67.0	64.0					20																	45867626		2185	4274	6459	SO:0001819	synonymous_variant	23613	11	121280	44				g.chr20:45867626C>T	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.2481G>A	chr20.hg19:g.45867626C>T		0					ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000396281.4_Silent_p.T827T	p.T827T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	1	2	3	1.995265	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)	15	2734	-			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	Silent	SNP	ENST00000311275.7	1	1	hg19	c.2481G>A		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	0	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000	NM_183047			107	105		538	529	1		1	1		0	0	122	0		1	9.569769e-01	0	2	0	26	0	107	538
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	687					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507																																						ENST00000311275.7	1.000000	0.800000	1	9.100000e-01	0.990000	0.968392	0.990000	1.000000																										1	Substitution - Missense(1)	p.K707N(1)	large_intestine(1)	62						c.(2059-2061)aaG>aaT		zinc finger, MYND-type containing 8							201.0	183.0	189.0					20																	45874915		2203	4300	6503	SO:0001583	missense	23613	0	0					g.chr20:45874915C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2061G>T	chr20.hg19:g.45874915C>A	ENSP00000312237:p.Lys687Asn	0					ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N	p.K687N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	1	2	3	1.995265	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)	14	2314	-			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	1	1	hg19	c.2061G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	0|2	ZMYND8|ZMYND8	45308322|45308322	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1		2	2	2	0		0	0	140		140	138	1	2.060000	-2.879461	1	0.170000	NM_183047			68	66		717	704	1		1	1		0	0	140	0		1	9.976942e-01	0	17	0	79	0	68	717
NCOA3	8202	broad.mit.edu	37	20	46252654	46252654	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000371998.3	+	4	274		c.e4-1		NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site|NCOA3_ENST00000371997.3_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTCCCTTAGTCTTACCTGC	0.393																																						ENST00000371998.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				52						c.e4-1		nuclear receptor coactivator 3							60.0	63.0	62.0					20																	46252654		2203	4300	6503	SO:0001630	splice_region_variant	8202	0	0					g.chr20:46252654G>T	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.84-1G>T	chr20.hg19:g.46252654G>T		0					NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site				1	2	3	1.995265	Q9Y6Q9	NCOA3_HUMAN		4	274	+			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	1	1	hg19		CCDS13407.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320843	0.23994	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NCOA3	45686061	45686061	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	7.235000	0.78143	2.937000	0.99478	0.650000	0.86243	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_006534	Intron		31	30		176	170	1		1	0		0	0	43	0		1	0	0	0	0	1	0	31	176
NCOA3	8202	broad.mit.edu	37	20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000371998.3	+	9	1075	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000372004.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V|NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	295					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCTTTGAAGATATAATCCGA	0.368																																						ENST00000371998.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(883-885)gAt>gTt		nuclear receptor coactivator 3							94.0	99.0	97.0					20																	46262300		2203	4300	6503	SO:0001583	missense	8202	0	0					g.chr20:46262300A>T	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.884A>T	chr20.hg19:g.46262300A>T	ENSP00000361066:p.Asp295Val	0					NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000372004.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V	p.D295V			1	2	3	1.995265	Q9Y6Q9	NCOA3_HUMAN		9	1075	+			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	1	1	hg19	c.884A>T	CCDS13407.1	1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522593	0.85600	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.97110	0.961;1.0;0.943;0.943;0.974;0.943	T	0.58891	-0.7556	10	0.87932	D	0	-28.1386	15.4236	0.75035	1.0:0.0:0.0:0.0	.	295;295;299;295;295;295	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	295;295;295;295;295;61	ENSP00000342123:D295V;ENSP00000361073:D295V;ENSP00000361066:D295V;ENSP00000361065:D295V	ENSP00000345671:D295V	D	+	2	0	0	NCOA3	45695707	45695707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_006534			103	100		367	357	1		1	1		0	0	70	0		1	9.999990e-01	0	14	0	59	0	103	367
NCOA3	8202	broad.mit.edu	37	20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000371998.3	+	12	1741	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000372004.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I|NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	517	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAACCACAGCTTTTCCAGC	0.453																																						ENST00000371998.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1549-1551)aGc>aTc		nuclear receptor coactivator 3							64.0	64.0	64.0					20																	46264680		2203	4300	6503	SO:0001583	missense	8202	0	0					g.chr20:46264680G>T	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.1550G>T	chr20.hg19:g.46264680G>T	ENSP00000361066:p.Ser517Ile	0					NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000372004.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I	p.S517I			1	2	3	1.995265	Q9Y6Q9	NCOA3_HUMAN		12	1741	+			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	1	1	hg19	c.1550G>T	CCDS13407.1	1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252255	0.39797	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	2.76	0.32466	5.72	2.76	0.32466	.	0.239134	0.42821	D	0.000652	T	0.23014	0.0556	M	0.70275	2.135	0.37709	D	0.924494	P;P;P;B;P;P	0.40660	0.554;0.677;0.554;0.373;0.682;0.726	B;B;B;B;P;B	0.44860	0.273;0.299;0.273;0.273;0.462;0.342	T	0.05632	-1.0873	10	0.72032	D	0.01	-3.665	7.0434	0.25033	0.2174:0.1333:0.6494:0.0	.	517;527;521;517;517;517	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	517;527;517;517;527	ENSP00000342123:S527I;ENSP00000361073:S517I;ENSP00000361066:S517I;ENSP00000361065:S527I	ENSP00000345671:S517I	S	+	2	0	0	NCOA3	45698087	45698087	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.363000	0.24346	-0.150000	0.13652	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_006534			75	74		356	347	1		1	1		0	0	57	0		1	9.999978e-01	0	15	0	76	0	75	356
NCOA3	8202	broad.mit.edu	37	20	46264735	46264735	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000371998.3	+	12	1796	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000372004.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T|NCOA3_ENST00000371997.3_Silent_p.T545T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	535	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGTGGGGACTTCCCTTTTAT	0.478																																						ENST00000371998.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1603-1605)acT>acG		nuclear receptor coactivator 3							86.0	84.0	84.0					20																	46264735		2203	4300	6503	SO:0001819	synonymous_variant	8202	0	0					g.chr20:46264735T>G	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.1605T>G	chr20.hg19:g.46264735T>G		0					NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000372004.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T	p.T535T			1	2	3	1.995265	Q9Y6Q9	NCOA3_HUMAN		12	1796	+			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	1	1	hg19	c.1605T>G	CCDS13407.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_006534			95	93		419	407	1		1	1		0	0	67	0		1	9.999301e-01	0	16	0	47	0	95	419
NCOA3	8202	broad.mit.edu	37	20	46277853	46277853	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371997.3_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	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)			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						tgagctcccaggtgaggatga	0.507																																						ENST00000371998.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				52						c.(3649-3651)caG>caA		nuclear receptor coactivator 3							63.0	55.0	57.0					20																	46277853		2203	4300	6503	SO:0001630	splice_region_variant	8202	0	0					g.chr20:46277853G>A	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.3651+1G>A	chr20.hg19:g.46277853G>A		0					NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000341724.6_Intron	p.Q1217Q			1	2	3	1.995265	Q9Y6Q9	NCOA3_HUMAN		19	3842	+			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	1	0	hg19	c.3651G>A	CCDS13407.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_006534	Silent		32	32		177	173	0		1	0		0	0	55	0		1	9.912157e-01	0	1	0	43	0	32	177
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	C	T	rs375057882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	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						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCCAGTACGAGAGGGAAT	0.532																																						ENST00000379440.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(652-654)taC>taT		prion protein		C	,,,,	0,4406		0,0,2203	136.0	117.0	123.0		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5621	17	121412	42				g.chr20:4680520C>T	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.654C>T	chr20.hg19:g.4680520C>T		0					PRNP_ENST00000430350.2_Silent_p.Y218Y	p.Y218Y	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	1	2	3	1.995265	F7VJQ1	APRIO_HUMAN		2	941	+				Silent	SNP	ENST00000379440.4	1	1	hg19	c.654C>T	CCDS13080.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_000311			42	41		184	182	1		1	1		0	0	62	0		1	1	0	71	0	590	0	42	184
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597																																						ENST00000305817.2	1.000000	0.490000	1	6.200000e-01	0.790000	0.800538	0.790000	1.000000																										0				13						c.(466-468)Cgg>Tgg		prion protein 2 (dublet)							35.0	34.0	34.0					20																	4705663		2203	4300	6503	SO:0001583	missense	23627	1	121404	28				g.chr20:4705663C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.466C>T	chr20.hg19:g.4705663C>T	ENSP00000306900:p.Arg156Trp	0						p.R156W	NM_012409.2	NP_036541.2	1	2	3	1.995265	Q9UKY0	PRND_HUMAN		2	537	+			A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	1	1	hg19	c.466C>T	CCDS13081.1	0	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643659	0.29246	.	.	ENSG00000171864	ENST00000305817	D	0.89552	-2.53	4.7	1.64	0.23874	4.7	1.64	0.23874	Prion/Doppel protein, beta-ribbon domain (1);	0.620637	0.13289	N	0.399160	D	0.82435	0.5036	L	0.49126	1.545	0.09310	N	1	B	0.26975	0.165	B	0.19946	0.027	T	0.71679	-0.4520	10	0.56958	D	0.05	-19.0496	4.3118	0.10974	0.1797:0.6246:0.0:0.1957	.	156	Q9UKY0	PRND_HUMAN	W	156	ENSP00000306900:R156W	ENSP00000306900:R156W	R	+	1	2	2	PRND	4653663	4653663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.451000	0.21779	0.141000	0.18875	0.557000	0.71058	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-19.989540	1	0.170000	NM_012409			18	18		254	251	0		1	0		0	0	39	0		9.999829e-01	0	0	0	0	1	0	18	254
SULF2	55959	broad.mit.edu	37	20	46365517	46365517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000361612.4_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	115					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 fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGGAGGGCGAGGAGCAGT	0.607																																						ENST00000359930.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(343-345)tcG>tcA		sulfatase 2							232.0	166.0	188.0					20																	46365517		2203	4300	6503	SO:0001819	synonymous_variant	55959	0	0					g.chr20:46365517C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.345G>A	chr20.hg19:g.46365517C>T		0					SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S	p.S115S	NM_018837.3	NP_061325.1	1	2	3	1.995265	Q8IWU5	SULF2_HUMAN		3	1196	-			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	1	1	hg19	c.345G>A	CCDS13408.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.520127	1	0.170000	NM_018837			44	43		188	186	1		1	1		0	0	45	0		1	1	0	209	0	268	0	44	188
PREX1	57580	broad.mit.edu	37	20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A	rs371398821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000371941.3	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					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)			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)			TCTTCGCGCCGACTCCGGAAT	0.582																																						ENST00000371941.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(2329-2331)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	86.0	85.0		2329	3.0	0.2	20		85	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	777/1660	47269916	1,13005	2203	4300	6503	SO:0001583	missense	57580	4	121412	42				g.chr20:47269916G>A	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.2329C>T	chr20.hg19:g.47269916G>A	ENSP00000361009:p.Arg777Trp	0					PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	p.R777W	NM_020820.3	NP_065871	1	2	3	1.995265	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)	20	2351	-			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	1	1	hg19	c.2329C>T	CCDS13410.1	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709441	0.48517	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.12	2.95	0.34219	5.12	2.95	0.34219	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.49609	0.1567	L	0.42245	1.32	0.22142	N	0.999336	P;D	0.63046	0.918;0.992	B;P	0.52710	0.368;0.707	T	0.46735	-0.9170	10	0.87932	D	0	.	11.6856	0.51483	0.0:0.0:0.6956:0.3044	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	777	ENSP00000361009:R777W;ENSP00000379522:R777W	ENSP00000361009:R777W	R	-	1	2	2	PREX1	46703323	46703323	0.578000	0.26717	0.188000	0.23233	0.355000	0.29361	1.778000	0.38614	2.386000	0.81285	0.462000	0.41574	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1		2	2	2	0		0	0	171		171	167	1	2.060000	-20.000000	1	0.170000	NM_020820			131	128		622	602	1		1	0		0	0	171	0		1	9.999121e-01	0	0	0	65	0	131	622
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000371941.3	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000396220.1_Silent_p.Q631Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	631	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)			AGTCCTCCTCCTGGGGCAGGA	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371941.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(1891-1893)caG>caA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							192.0	179.0	184.0					20																	47274755		2203	4300	6503	SO:0001819	synonymous_variant	57580	0	0					g.chr20:47274755C>T	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.1893G>A	chr20.hg19:g.47274755C>T		0		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_ENST00000396220.1_Silent_p.Q631Q	p.Q631Q	NM_020820.3	NP_065871	1	2	3	1.995265	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)	17	1915	-			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	1	1	hg19	c.1893G>A	CCDS13410.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1		2	2	2	0		0	0	218		218	215	1	2.060000	-4.469934	1	0.170000	NM_020820			350	347		1266	1246	1		1	1		0	0	218	0		1	1	0	2	0	91	0	350	1266
PREX1	57580	broad.mit.edu	37	20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000371941.3	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	459	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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)			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)			TTCTTCCGTCTTGCTGATTTC	0.542																																						ENST00000371941.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(1375-1377)aAg>aCg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							242.0	215.0	224.0					20																	47297832		2203	4300	6503	SO:0001583	missense	57580	0	0					g.chr20:47297832T>G	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.1376A>C	chr20.hg19:g.47297832T>G	ENSP00000361009:p.Lys459Thr	0					PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	p.K459T	NM_020820.3	NP_065871	1	2	3	1.995265	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)	11	1398	-			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	1	1	hg19	c.1376A>C	CCDS13410.1	1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.788204	0.70337	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.11604	2.76;2.76	4.41	4.41	0.53225	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.233910	0.28349	U	0.015671	T	0.06096	0.0158	N	0.02658	-0.545	0.58432	D	0.999997	P	0.39131	0.661	B	0.42593	0.392	T	0.52741	-0.8535	10	0.30854	T	0.27	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	459	Q8TCU6	PREX1_HUMAN	T	459	ENSP00000361009:K459T;ENSP00000379522:K459T	ENSP00000361009:K459T	K	-	2	0	0	PREX1	46731239	46731239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.960000	0.87893	1.636000	0.50526	0.468000	0.43344	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1		2	2	2	0		0	0	256		256	255	1	2.060000	-20.000000	1	0.170000	NM_020820			212	207		1090	1068	1		1	0		0	0	256	0		1	9.999947e-01	0	0	0	87	0	212	1090
PREX1	57580	broad.mit.edu	37	20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000371941.3	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	236	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)			TCATTGATGTTGGAGCAAACG	0.617																																						ENST00000371941.3	1.000000	0.300000	5.000000e-01	3.500000e-01	0.420000	0.452891	0.420000	0.410000																										0				110						c.(706-708)Aac>Gac		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							138.0	141.0	140.0					20																	47324875		2203	4300	6503	SO:0001583	missense	57580	0	0					g.chr20:47324875T>C	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.706A>G	chr20.hg19:g.47324875T>C	ENSP00000361009:p.Asn236Asp	0					PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	p.N236D	NM_020820.3	NP_065871	1	2	3	1.995265	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)	6	728	-			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	1	1	hg19	c.706A>G	CCDS13410.1	0	.	.	.	.	.	.	.	.	.	.	T	31	5.083529	0.94050	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	-0.0;-0.0	5.64	5.64	0.86602	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000016	T	0.73536	0.3599	L	0.48935	1.535	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.74685	-0.3582	10	0.52906	T	0.07	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	236	Q8TCU6	PREX1_HUMAN	D	236	ENSP00000361009:N236D;ENSP00000379522:N236D	ENSP00000361009:N236D	N	-	1	0	0	PREX1	46758282	46758282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.147000	0.66899	0.533000	0.62120	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	0	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_020820			42	41		1145	1119	0		1	0		0	0	193	0		1	6.274208e-01	0	0	0	59	0	42	1145
PREX1	57580	broad.mit.edu	37	20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000371941.3	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	126	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)			CATGCTGAGACTGCGGCTCCG	0.483																																						ENST00000371941.3	1.000000	0.380000	6.300000e-01	4.400000e-01	0.520000	0.552914	0.520000	0.520000																										0				110						c.(376-378)caG>caT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							135.0	139.0	137.0					20																	47361598		2203	4300	6503	SO:0001583	missense	57580	0	0					g.chr20:47361598C>A	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.378G>T	chr20.hg19:g.47361598C>A	ENSP00000361009:p.Gln126His	0					PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	p.Q126H	NM_020820.3	NP_065871	1	2	3	1.995265	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)	3	400	-			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	1	1	hg19	c.378G>T	CCDS13410.1	0	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984385	0.18889	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63255	-0.03;-0.03	4.74	3.8	0.43715	4.74	3.8	0.43715	Dbl homology (DH) domain (5);	0.000000	0.47093	U	0.000244	T	0.44180	0.1281	N	0.22421	0.69	0.50313	D	0.999863	B	0.14012	0.009	B	0.17979	0.02	T	0.29458	-1.0011	10	0.33141	T	0.24	.	7.7548	0.28917	0.0:0.7448:0.0:0.2552	.	126	Q8TCU6	PREX1_HUMAN	H	126	ENSP00000361009:Q126H;ENSP00000379522:Q126H	ENSP00000361009:Q126H	Q	-	3	2	2	PREX1	46795005	46795005	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	0.839000	0.27586	1.218000	0.43458	0.561000	0.74099	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1		2	2	2	0		0	0	210		210	208	1	2.060000	-5.527319	1	0.170000	NM_020820			42	42		909	889	0		1	0		0	0	210	0		1	5.122197e-01	0	0	0	38	0	42	909
ARFGEF2	10564	broad.mit.edu	37	20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	320					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTAGGTGAACTGGAGTGCCAG	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(958-960)cTg>cCg		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							141.0	123.0	129.0					20																	47582460		2203	4300	6503	SO:0001583	missense	10564	0	0					g.chr20:47582460T>C	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.959T>C	chr20.hg19:g.47582460T>C	ENSP00000360985:p.Leu320Pro	0						p.L320P	NM_006420.2	NP_006411.2	1	2	3	1.995265	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)	8	959	+			Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	1	1	hg19	c.959T>C	CCDS13411.1	1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415843	0.25552	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23950	1.88	5.77	1.91	0.25777	5.77	1.91	0.25777	Armadillo-type fold (1);	1.860230	0.02204	N	0.062554	T	0.19167	0.0460	N	0.19112	0.55	0.20821	N	0.999841	B	0.24533	0.105	B	0.20384	0.029	T	0.22173	-1.0224	10	0.30854	T	0.27	.	8.4988	0.33146	0.0:0.2371:0.0:0.7629	.	320	Q9Y6D5	BIG2_HUMAN	P	320	ENSP00000360985:L320P	ENSP00000360985:L320P	L	+	2	0	0	ARFGEF2	47015867	47015867	0.201000	0.23410	0.163000	0.22734	0.955000	0.61496	0.678000	0.25277	0.331000	0.23511	0.379000	0.24179	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_006420			100	99		388	377	1		1	1		0	0	89	0		1	9.992987e-01	0	8	0	36	0	100	388
ARFGEF2	10564	broad.mit.edu	37	20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	684	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATTCCTGCACCAGGAGGAGCG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2050-2052)Cag>Tag		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							125.0	107.0	113.0					20																	47601357		2203	4300	6503	SO:0001587	stop_gained	10564	0	0					g.chr20:47601357C>T	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.2050C>T	chr20.hg19:g.47601357C>T	ENSP00000360985:p.Gln684*	0						p.Q684*	NM_006420.2	NP_006411.2	1	2	3	1.995265	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)	15	2050	+			Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	0	1	hg19	c.2050C>T	CCDS13411.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.447046	0.98289	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000360985:Q684X	Q	+	1	0	0	ARFGEF2	47034764	47034764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.770000	0.95276	0.563000	0.77884	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-3.291779	1	0.170000	NM_006420			121	119		446	436	0		1	1		0	0	142	0		1	9.999821e-01	0	3	0	57	0	121	446
ARFGEF2	10564	broad.mit.edu	37	20	47628603	47628603	+	Silent	SNP	C	C	T	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1300					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGGCAAATACGTCTCTGAGA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4	1.000000	0.550000	9.700000e-01	6.600000e-01	0.790000	0.805683	0.790000	1.000000																										0				63						c.(3898-3900)taC>taT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)		C		1,4405	2.1+/-5.4	0,1,2202	111.0	104.0	107.0		3900	-5.1	0.9	20	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1300/1786	47628603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10564	1	121412	34				g.chr20:47628603C>T	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.3900C>T	chr20.hg19:g.47628603C>T		0						p.Y1300Y	NM_006420.2	NP_006411.2	1	2	3	1.995265	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)	28	3900	+			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	1	1	hg19	c.3900C>T	CCDS13411.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_006420			31	30		434	425	0		1	1		0	0	72	0		1	8.905539e-01	0	3	0	53	0	31	434
CSE1L	1434	broad.mit.edu	37	20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	410					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTTATGTTAATTCCATGCTGC	0.428																																						ENST00000262982.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1228-1230)aaT>aaG		CSE1 chromosome segregation 1-like (yeast)							136.0	129.0	131.0					20																	47691952		2203	4300	6503	SO:0001583	missense	1434	0	0					g.chr20:47691952T>G	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1230T>G	chr20.hg19:g.47691952T>G	ENSP00000262982:p.Asn410Lys	0					CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	p.N410K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	1	2	3	1.995265	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)	12	1353	+			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	1	1	hg19	c.1230T>G	CCDS13412.1	1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109234	0.20714	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	3.35	0.38373	5.68	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.083086	0.85682	D	0.000000	T	0.42562	0.1208	L	0.31476	0.935	0.58432	D	0.99999	B;B;B;B;B	0.18968	0.002;0.002;0.016;0.032;0.006	B;B;B;B;B	0.16722	0.007;0.012;0.016;0.016;0.012	T	0.15321	-1.0441	10	0.07325	T	0.83	-24.4379	8.1045	0.30877	0.0:0.3166:0.0:0.6834	.	99;193;354;354;410	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	410;193;354	ENSP00000262982:N410K;ENSP00000446477:N193K;ENSP00000379495:N354K	ENSP00000262982:N410K	N	+	3	2	2	CSE1L	47125359	47125359	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.550000	0.45811	0.403000	0.25479	-0.366000	0.07423	AAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_001316			105	104		400	393	1		1	1		0	0	89	0		1	1	0	42	0	135	0	105	400
CSE1L	1434	broad.mit.edu	37	20	47700686	47700686	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47700686A>G	ENST00000262982.2	+	15	1729	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	536					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GCGAGGGCCTAACAATGCCAC	0.403																																						ENST00000262982.2	1.000000	0.080000	3.000000e-01	1.300000e-01	0.200000	0.250566	0.200000	0.190000																										0				35						c.(1606-1608)Aac>Gac		CSE1 chromosome segregation 1-like (yeast)							117.0	111.0	114.0					20																	47700686		2203	4300	6503	SO:0001583	missense	1434	0	0					g.chr20:47700686A>G	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1606A>G	chr20.hg19:g.47700686A>G	ENSP00000262982:p.Asn536Asp	0					CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	p.N536D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	1	2	3	1.995265	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)	15	1729	+			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	0	1	hg19	c.1606A>G	CCDS13412.1	0	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888602	0.33348	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.43688	0.94;0.94;0.94	5.61	4.5	0.54988	5.61	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.131649	0.64402	D	0.000002	T	0.29389	0.0732	L	0.31065	0.9	0.47547	D	0.999453	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.05716	-1.0868	10	0.13108	T	0.6	-10.0128	12.7828	0.57487	0.863:0.137:0.0:0.0	.	225;319;480;536	F5GX54;B4DUC5;F8W904;P55060	.;.;.;XPO2_HUMAN	D	134;536;319;480	ENSP00000262982:N536D;ENSP00000446477:N319D;ENSP00000379495:N480D	ENSP00000262982:N536D	N	+	1	0	0	CSE1L	47134093	47134093	1.000000	0.71417	0.837000	0.33122	0.834000	0.47266	6.955000	0.76007	0.929000	0.37192	0.482000	0.46254	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	0	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-6.494387	1	0.170000	NM_001316			7	7		429	421	0		1	1		0	0	68	0		9.794695e-01	7.348307e-01	0	2	0	155	0	7	429
STAU1	6780	broad.mit.edu	37	20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371856.2	-	11	1852	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371828.3_Missense_Mutation_p.V406A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	481					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)			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)			TCCATGGGGTACGTGGCCTGA	0.542																																						ENST00000371856.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1441-1443)gTa>gCa		staufen double-stranded RNA binding protein 1							107.0	100.0	102.0					20																	47734381		2203	4300	6503	SO:0001583	missense	6780	0	0					g.chr20:47734381A>G		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.1442T>C	chr20.hg19:g.47734381A>G	ENSP00000360922:p.Val481Ala	0					STAU1_ENST00000371828.3_Missense_Mutation_p.V406A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A	p.V481A	NM_017453.2	NP_059347.2	1	2	3	1.995265	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)	11	1852	-			A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	1	1	hg19	c.1442T>C	CCDS13414.1	1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485931	0.26686	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62	1.67	0.24075	5.62	1.67	0.24075	.	0.382698	0.28724	N	0.014355	T	0.16428	0.0395	N	0.19112	0.55	0.36619	D	0.875678	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15809	-1.0424	10	0.17369	T	0.5	-1.9751	9.0908	0.36610	0.7594:0.0:0.2406:0.0	.	481;406	O95793;Q5JW29	STAU1_HUMAN;.	A	406;400;481;400;400;400;406;398	ENSP00000360893:V406A;ENSP00000345425:V400A;ENSP00000360922:V481A;ENSP00000353604:V400A;ENSP00000323443:V400A;ENSP00000360867:V406A;ENSP00000360857:V398A	ENSP00000345425:V400A	V	-	2	0	0	STAU1	47167788	47167788	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	1.920000	0.40025	0.276000	0.22118	0.528000	0.53228	GTA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_017453			70	69		305	295	1		1	1		0	0	76	0		1	1	0	94	0	264	0	70	305
STAU1	6780	broad.mit.edu	37	20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371856.2	-	5	874	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371828.3_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	155	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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)			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)			CCTCAACGCTTTGGCAGCAGC	0.537																																						ENST00000371856.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(463-465)aAa>aCa		staufen double-stranded RNA binding protein 1							146.0	128.0	134.0					20																	47768165		2203	4300	6503	SO:0001583	missense	6780	0	0					g.chr20:47768165T>G		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.464A>C	chr20.hg19:g.47768165T>G	ENSP00000360922:p.Lys155Thr	0					STAU1_ENST00000371828.3_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T	p.K155T	NM_017453.2	NP_059347.2	1	2	3	1.995265	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)	5	874	-			A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	1	1	hg19	c.464A>C	CCDS13414.1	1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039199	0.55003	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;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;-1.15	5.63	3.37	0.38596	5.63	3.37	0.38596	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.096026	0.64402	D	0.000001	D	0.85204	0.5643	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.56521	0.976;0.966	D;D	0.64410	0.925;0.923	D	0.84327	0.0519	10	0.87932	D	0	-7.0256	9.2526	0.37564	0.0:0.1472:0.0:0.8528	.	155;74	O95793;Q5JW29	STAU1_HUMAN;.	T	74;74;155;74;74;74;74;74;74;114	ENSP00000360893:K74T;ENSP00000345425:K74T;ENSP00000360922:K155T;ENSP00000353604:K74T;ENSP00000323443:K74T;ENSP00000360867:K74T;ENSP00000360857:K74T;ENSP00000416779:K74T;ENSP00000398785:K114T	ENSP00000345425:K74T	K	-	2	0	0	STAU1	47201572	47201572	1.000000	0.71417	0.218000	0.23776	0.234000	0.25298	3.912000	0.56386	0.433000	0.26313	0.533000	0.62120	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_017453			61	60		312	304	1		1	1		0	0	80	0		1	1	0	97	0	306	0	61	312
CSNK2A1	1457	broad.mit.edu	37	20	478425	478425	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000349736.5_Splice_Site|CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000400217.2_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide						axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343																																						ENST00000217244.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				17						c.e7-1		casein kinase 2, alpha 1 polypeptide							86.0	87.0	87.0					20																	478425		2203	4300	6503	SO:0001630	splice_region_variant	1457	0	0					g.chr20:478425C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.367-1G>T	chr20.hg19:g.478425C>A		0					CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site|CSNK2A1_ENST00000400217.2_Splice_Site		NM_177559.2	NP_808227.1	1	2	3	1.995265	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)	7	742	-		Breast(17;0.231)	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Splice_Site	SNP	ENST00000217244.3	1	1	hg19		CCDS13003.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680195	0.88542	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CSNK2A1	426425	426425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001895	Intron		37	37		199	197	1		1			0	0	87	0		1	0	0	0	0	0	0	37	199
DDX27	55661	broad.mit.edu	37	20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	41						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAATCGGAACCATAGGCGAG	0.602																																						ENST00000371764.4	1.000000	0.960000	1	9.900000e-01	0.990000	0.997293	0.990000	1.000000																										0				45						c.(121-123)aCc>aAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							68.0	62.0	64.0					20																	47836014		2203	4300	6503	SO:0001583	missense	55661	0	0					g.chr20:47836014C>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.122C>A	chr20.hg19:g.47836014C>A	ENSP00000360828:p.Thr41Asn	0					DDX27_ENST00000484427.1_3'UTR	p.T41N	NM_017895.7	NP_060365.7	1	2	3	1.995265	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	1	131	+			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	1	1	hg19	c.122C>A	CCDS13416.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076268	0.76415	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.86297	-2.1	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.54323	1.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.63488	0.915	D	0.91424	0.5161	10	0.87932	D	0	-20.4532	16.1635	0.81734	0.0:1.0:0.0:0.0	.	41	Q96GQ7	DDX27_HUMAN	N	41	ENSP00000360828:T41N	ENSP00000360828:T41N	T	+	2	0	0	DDX27	47269421	47269421	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	5.007000	0.63984	2.894000	0.99253	0.655000	0.94253	ACC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				31	31		237	234	1		1	1		0	0	50	0		1	9.999625e-01	0	30	0	93	0	31	237
ZNFX1	57169	broad.mit.edu	37	20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1451							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			TTCGAAGCAGCTGTGGCAGGA	0.567																																						ENST00000396105.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4351-4353)aGc>aAc		zinc finger, NFX1-type containing 1							45.0	44.0	44.0					20																	47865209		2203	4300	6503	SO:0001583	missense	57169	0	0					g.chr20:47865209C>T	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.4352G>A	chr20.hg19:g.47865209C>T	ENSP00000379412:p.Ser1451Asn	0					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N	p.S1451N	NM_021035.2	NP_066363.1	1	2	3	1.995265	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	14	4598	-			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	1	1	hg19	c.4352G>A	CCDS13417.1	1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053567	0.19907	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56776	0.44;0.44	6.07	3.83	0.44106	6.07	3.83	0.44106	.	0.355484	0.33235	N	0.005129	T	0.39358	0.1075	L	0.43757	1.38	0.23886	N	0.99656	B	0.02656	0.0	B	0.06405	0.002	T	0.15549	-1.0433	10	0.25106	T	0.35	-19.6266	7.0874	0.25266	0.0:0.6048:0.2292:0.166	.	1451	Q9P2E3	ZNFX1_HUMAN	N	1451	ENSP00000360817:S1451N;ENSP00000379412:S1451N	ENSP00000360817:S1451N	S	-	2	0	0	ZNFX1	47298616	47298616	0.006000	0.16342	1.000000	0.80357	0.907000	0.53573	0.683000	0.25349	1.578000	0.49821	0.655000	0.94253	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_021035			54	48		206	202	1		1	1		0	0	53	0		1	1	0	55	0	111	0	54	206
KCNB1	3745	broad.mit.edu	37	20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	200					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)			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)	GTGGAGAGGACGATGAACATG	0.522																																						ENST00000371741.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(598-600)Gtc>Atc		potassium voltage-gated channel, Shab-related subfamily, member 1	Dalfampridine(DB06637)						114.0	94.0	100.0					20																	47991499		2203	4300	6503	SO:0001583	missense	3745	3	121364	33				g.chr20:47991499C>T	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.598G>A	chr20.hg19:g.47991499C>T	ENSP00000360806:p.Val200Ile	0						p.V200I	NM_004975.2	NP_004966.1	1	2	3	1.995265	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	2	764	-			Q14193	Missense_Mutation	SNP	ENST00000371741.4	1	1	hg19	c.598G>A	CCDS13418.1	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125325	0.37533	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97378	-4.36	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.123534	0.53938	N	0.000050	D	0.93216	0.7839	N	0.26042	0.785	0.58432	D	0.999997	P	0.40266	0.71	B	0.32211	0.142	D	0.92691	0.6166	10	0.35671	T	0.21	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	200	Q14721	KCNB1_HUMAN	I	200;155	ENSP00000360806:V200I	ENSP00000360806:V200I	V	-	1	0	0	KCNB1	47424906	47424906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.785000	0.95823	0.655000	0.94253	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.999930	1	0.170000	NM_004975			39	38		159	156	1		1			0	0	49	0		1	0	0	0	0	0	0	39	159
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557																																						ENST00000244043.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(271-273)cGc>cAc		prostaglandin I2 (prostacyclin) synthase	Epoprostenol(DB01240)|Phenylbutazone(DB00812)	C	HIS/ARG	0,4406		0,0,2203	123.0	110.0	114.0		272	3.1	0.6	20	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTGIS	NM_000961.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	91/501	48164483	2,13004	2203	4300	6503	SO:0001583	missense	5740	8	121412	42				g.chr20:48164483C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.272G>A	chr20.hg19:g.48164483C>T	ENSP00000244043:p.Arg91His	0					PTGIS_ENST00000478971.1_Intron	p.R91H	NM_000961.3	NP_000952.1	1	2	3	1.995265	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	3	301	-			Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	1	1	hg19	c.272G>A	CCDS13419.1	1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067960	0.20067	0.0	2.33E-4	ENSG00000124212	ENST00000244043	T	0.68624	-0.34	5.01	3.07	0.35406	5.01	3.07	0.35406	.	0.452476	0.24220	N	0.040442	T	0.48205	0.1487	N	0.16368	0.405	0.35058	D	0.761245	B	0.14438	0.01	B	0.08055	0.003	T	0.50145	-0.8862	10	0.42905	T	0.14	-15.4298	10.6534	0.45661	0.0:0.8382:0.0:0.1618	.	91	Q16647	PTGIS_HUMAN	H	91	ENSP00000244043:R91H	ENSP00000244043:R91H	R	-	2	0	0	PTGIS	47597890	47597890	0.993000	0.37304	0.603000	0.28903	0.174000	0.22865	1.806000	0.38892	0.502000	0.28037	-0.463000	0.05309	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2	1	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000				127	124		599	589	1		1	0		0	0	140	0		1	9.950421e-01	0	1	0	39	0	127	599
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	G	A	rs529151995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	367					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22899	0.0		0.0	False		,,,				2504	0.001					ENST00000371711.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1099-1101)taC>taT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							273.0	232.0	246.0					20																	48252915		2203	4300	6503	SO:0001819	synonymous_variant	9334	2	121412	37				g.chr20:48252915G>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1101C>T	chr20.hg19:g.48252915G>A		0						p.Y367Y	NM_004776.3	NP_004767.1	1	2	3	1.995265	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)	9	1288	-			E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	1	1	hg19	c.1101C>T	CCDS13420.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_004776			72	70		344	338	1		1	1		0	0	79	0		1	1	0	36	0	153	0	72	344
B4GALT5	9334	broad.mit.edu	37	20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	186					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493																																						ENST00000371711.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				20						c.(556-558)cCc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							107.0	98.0	101.0					20																	48259054		2203	4300	6503	SO:0001583	missense	9334	0	0					g.chr20:48259054G>T	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.557C>A	chr20.hg19:g.48259054G>T	ENSP00000360776:p.Pro186His	0						p.P186H	NM_004776.3	NP_004767.1	1	2	3	1.995265	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)	5	744	-			E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	1	1	hg19	c.557C>A	CCDS13420.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820244	0.90873	.	.	ENSG00000158470	ENST00000371711	T	0.37058	1.22	5.78	4.84	0.62591	5.78	4.84	0.62591	.	0.046700	0.85682	D	0.000000	T	0.66906	0.2837	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75468	-0.3307	10	0.87932	D	0	-23.4875	14.7944	0.69868	0.0688:0.0:0.9312:0.0	.	186	O43286	B4GT5_HUMAN	H	186	ENSP00000360776:P186H	ENSP00000360776:P186H	P	-	2	0	0	B4GALT5	47692461	47692461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	1.453000	0.47775	0.650000	0.86243	CCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	0	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-2.880169	1	0.170000	NM_004776			50	49		309	303	1		1	1		0	0	80	0		1	1	0	58	0	130	0	50	309
SLC23A2	9962	broad.mit.edu	37	20	4855240	4855240	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	309					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)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTTGAACAGCTGTAACTTGT	0.383																																						ENST00000379333.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(925-927)caG>caA		solute carrier family 23 (ascorbic acid transporter), member 2							194.0	186.0	188.0					20																	4855240		2203	4300	6503	SO:0001819	synonymous_variant	9962	0	0					g.chr20:4855240C>T	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.927G>A	chr20.hg19:g.4855240C>T		0					SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	p.Q309Q	NM_203327.1	NP_976072.1	1	2	3	1.995265	Q9UGH3	S23A2_HUMAN		10	1319	-			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	1	1	hg19	c.927G>A	CCDS13085.1	1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180732	0.01633	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-1.36	0.09085	5.44	-1.36	0.09085	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-9.0181	5.6703	0.17719	0.0:0.475:0.2403:0.2847	.	.	.	.	T	66	.	.	A	-	1	0	0	SLC23A2	4803240	4803240	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	2.191000	0.42640	-0.233000	0.09797	-0.176000	0.13171	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000				120	117		570	561	0		1	1		0	0	154	0		1	9.955665e-01	0	2	0	39	0	120	570
B4GALT5	9334	broad.mit.edu	37	20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	136					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463																																						ENST00000371711.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(406-408)tAc>tGc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							203.0	182.0	189.0					20																	48260145		2203	4300	6503	SO:0001583	missense	9334	0	0					g.chr20:48260145T>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.407A>G	chr20.hg19:g.48260145T>C	ENSP00000360776:p.Tyr136Cys	0						p.Y136C	NM_004776.3	NP_004767.1	1	2	3	1.995265	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)	4	594	-			E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	1	1	hg19	c.407A>G	CCDS13420.1	1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525094	0.64747	.	.	ENSG00000158470	ENST00000371711	T	0.21734	1.99	5.46	-3.22	0.05125	5.46	-3.22	0.05125	.	0.514621	0.24020	N	0.042290	T	0.14657	0.0354	N	0.14661	0.345	0.23150	N	0.998216	P	0.44521	0.837	P	0.52627	0.704	T	0.18808	-1.0325	10	0.40728	T	0.16	0.0085	5.8684	0.18789	0.1051:0.0634:0.4693:0.3622	.	136	O43286	B4GT5_HUMAN	C	136	ENSP00000360776:Y136C	ENSP00000360776:Y136C	Y	-	2	0	0	B4GALT5	47693552	47693552	0.927000	0.31430	0.005000	0.12908	0.929000	0.56500	1.853000	0.39358	-0.974000	0.03550	0.459000	0.35465	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_004776			94	92		347	342	1		1	1		0	0	79	0		1	1	0	47	0	115	0	94	347
FAM65C	140876	broad.mit.edu	37	20	49214249	49214249	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662																																						ENST00000327979.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				29						c.e14-2		family with sequence similarity 65, member C							43.0	32.0	36.0					20																	49214249		2203	4300	6503	SO:0001630	splice_region_variant	140876	0	0					g.chr20:49214249T>G	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1648-2A>C	chr20.hg19:g.49214249T>G		0					FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site				1	2	3	1.995265	Q96MK2	FA65C_HUMAN		14	2059	-			Q5QPB6|Q9NQQ2	Splice_Site	SNP	ENST00000327979.2	1	1	hg19		CCDS13431.2	1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039431	0.35989	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.47	4.47	0.54385	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5877	0.50929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FAM65C	48647656	48647656	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.106000	0.57804	1.789000	0.52484	0.459000	0.35465	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000		Intron		20	20		84	83	1		1			0	0	21	0		9.999976e-01	0	0	0	0	0	0	20	84
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A	rs189208692	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905					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)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													G|||	2	0.000399361	0.0	0.0014	5008	,	,		23579	0.001		0.0	False		,,,				2504	0.0					ENST00000396029.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.998685	0.990000	1.000000																										0				39						c.(2713-2715)aaC>aaT		activity-dependent neuroprotector homeobox							151.0	151.0	151.0					20																	49508536		2203	4300	6503	SO:0001819	synonymous_variant	23394	21	121412	48				g.chr20:49508536G>A	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.2715C>T	chr20.hg19:g.49508536G>A		0					ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N	p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	1	2	3	1.995265	Q9H2P0	ADNP_HUMAN		5	3282	-			E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	1	1	hg19	c.2715C>T	CCDS13433.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000	NM_181442			89	87		781	771	1		1	1		0	0	168	0		1	1	0	29	0	220	0	89	781
ADNP	23394	broad.mit.edu	37	20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	530					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)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATCCGCATGTGTGCGGCCAT	0.408																																						ENST00000396029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1588-1590)cAc>cGc		activity-dependent neuroprotector homeobox							149.0	142.0	144.0					20																	49509662		2203	4300	6503	SO:0001583	missense	23394	0	0					g.chr20:49509662T>C	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.1589A>G	chr20.hg19:g.49509662T>C	ENSP00000379346:p.His530Arg	0					ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R	p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	1	2	3	1.995265	Q9H2P0	ADNP_HUMAN		5	2156	-			E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	1	1	hg19	c.1589A>G	CCDS13433.1	1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849202	0.51270	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	4.9	0.64082	6.01	4.9	0.64082	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	0.69869	0.3159	L	0.49126	1.545	0.52099	D	0.999945	D	0.71674	0.998	D	0.73708	0.981	T	0.72134	-0.4382	9	0.87932	D	0	-0.8131	13.4865	0.61369	0.0:0.0:0.1306:0.8694	.	530	Q9H2P0	ADNP_HUMAN	R	530	.	ENSP00000342905:H530R	H	-	2	0	0	ADNP	48943069	48943069	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.965000	0.70387	1.084000	0.41184	0.528000	0.53228	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_181442			149	147		614	604	1		1	1		0	0	143	0		1	1	0	51	0	152	0	149	614
ADNP	23394	broad.mit.edu	37	20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	185					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)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTTCCCTGTAAATGTGCTT	0.448																																						ENST00000396029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(553-555)tAc>tGc		activity-dependent neuroprotector homeobox							168.0	160.0	163.0					20																	49510697		2203	4300	6503	SO:0001583	missense	23394	0	0					g.chr20:49510697T>C	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.554A>G	chr20.hg19:g.49510697T>C	ENSP00000379346:p.Tyr185Cys	0					ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C	p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	1	2	3	1.995265	Q9H2P0	ADNP_HUMAN		5	1121	-			E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	1	1	hg19	c.554A>G	CCDS13433.1	1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267821	0.59540	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.08	6.08	0.98989	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.81885	-0.0727	10	0.49607	T	0.09	-3.5076	16.6438	0.85155	0.0:0.0:0.0:1.0	.	185	Q9H2P0	ADNP_HUMAN	C	185	ENSP00000360662:Y185C;ENSP00000342905:Y185C;ENSP00000379346:Y185C;ENSP00000379349:Y185C	ENSP00000342905:Y185C	Y	-	2	0	0	ADNP	48944104	48944104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.333000	0.79357	0.533000	0.62120	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	0	0	1		22	6	2	1		1	1	111		111	108	1	2.060000	-20.000000	1	0.170000	NM_181442			146	140		604	594	1		1	1		1	0	111	0		1	9.999920e-01	0	29	0	85	0	146	604
NFATC2	4773	broad.mit.edu	37	20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T	rs373570203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000396009.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R821H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H	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	821					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)		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)					GCTTCCGCAGCGCAGCTGCTG	0.652																																						ENST00000396009.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.998361	0.990000	1.000000																									EWSR1/NFATC2(9)	0				53						c.(2461-2463)cGc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55.0	56.0	55.0		2402,2462,2462	5.5	1.0	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	801/902,821/922,821/926	50048864	1,13005	2203	4300	6503	SO:0001583	missense	4773	0	0					g.chr20:50048864C>T	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.2462G>A	chr20.hg19:g.50048864C>T	ENSP00000379330:p.Arg821His	0					NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R821H	p.R821H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	1	2	3	1.995265	Q13469	NFAC2_HUMAN		9	2681	-	Hepatocellular(150;0.248)		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	1	1	hg19	c.2462G>A	CCDS13437.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023731	0.75390	0.0	1.16E-4	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.16457	2.34;2.35;2.36	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.40543	1.245	0.40106	D	0.976437	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.78314	0.945;0.991;0.948;0.899	T	0.03077	-1.1075	10	0.11485	T	0.65	-26.03	19.3156	0.94211	0.0:1.0:0.0:0.0	.	801;801;821;821	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	821;821;801	ENSP00000360619:R821H;ENSP00000379330:R821H;ENSP00000396471:R801H	ENSP00000360619:R821H	R	-	2	0	0	NFATC2	49482271	49482271	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.589000	0.67523	2.567000	0.86603	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-3.318794	1	0.170000	NM_012340			59	56		493	481	1		1	0		0	0	82	0		1	1.714453e-01	0	0	0	7	0	59	493
NFATC2	4773	broad.mit.edu	37	20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000396009.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R572*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*	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	572	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)		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)					TGAGCAGATCGCTGGGCTGCA	0.502																																						ENST00000396009.3	1.000000	0.720000	1	8.300000e-01	0.960000	0.933487	0.960000	1.000000																									EWSR1/NFATC2(9)	0				53						c.(1714-1716)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							124.0	122.0	123.0					20																	50071220		2203	4300	6503	SO:0001587	stop_gained	4773	0	0					g.chr20:50071220G>A	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.1714C>T	chr20.hg19:g.50071220G>A	ENSP00000379330:p.Arg572*	0					NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R572*	p.R572*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	1	2	3	1.995265	Q13469	NFAC2_HUMAN		6	1933	-	Hepatocellular(150;0.248)		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	0	1	hg19	c.1714C>T	CCDS13437.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.675014	0.98910	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.59	4.58	0.56647	5.59	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1039	13.2218	0.59892	0.0:0.0:0.7277:0.2723	.	.	.	.	X	572;572;552	.	ENSP00000360619:R572X	R	-	1	2	2	NFATC2	49504627	49504627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.442000	0.59988	2.622000	0.88805	0.650000	0.86243	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	1	0	1		2	2	2	0		0	0	167		167	166	1	2.060000	-12.499250	1	0.170000	NM_012340			51	51		578	563	0		1	0		0	0	167	0		1	6.370920e-01	0	0	0	26	0	51	578
ATP9A	10079	broad.mit.edu	37	20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	775					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)			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						TTGCCCGTGCGCTCCTGAAGC	0.642																																						ENST00000338821.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2323-2325)Cgc>Tgc		ATPase, class II, type 9A							43.0	45.0	44.0					20																	50235228		2203	4299	6502	SO:0001583	missense	10079	0	0					g.chr20:50235228G>A	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.2323C>T	chr20.hg19:g.50235228G>A	ENSP00000342481:p.Arg775Cys	0					ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C	p.R775C	NM_006045.1	NP_006036.1	1	2	3	1.995265	O75110	ATP9A_HUMAN		21	2587	-			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	1	1	hg19	c.2323C>T	CCDS33489.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105149	0.77096	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.82433	-1.61;-1.61;-1.61	5.35	5.35	0.76521	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.56396	1.775	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61658	0.738;0.892	D	0.88117	0.2829	10	0.72032	D	0.01	-33.5724	12.251	0.54597	0.0:0.0:0.7122:0.2878	.	654;775	O75110-2;O75110	.;ATP9A_HUMAN	C	639;775;654	ENSP00000309086:R639C;ENSP00000342481:R775C;ENSP00000385875:R654C	ENSP00000309086:R639C	R	-	1	0	0	ATP9A	49668635	49668635	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.258000	0.51507	2.493000	0.84123	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1		2	2	2	0		0	0	44		44	41	1	2.060000	-20.000000	1	0.170000	NM_006045			81	81		335	330	1		1	1		0	0	44	0		1	9.999986e-01	0	15	0	68	0	81	335
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	265					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)			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						TCACCTGATGCGACCACAGTG	0.483																																						ENST00000338821.5	1.000000	0.710000	1	8.000000e-01	0.890000	0.894238	0.890000	1.000000																										0				48						c.(793-795)Gca>Aca		ATPase, class II, type 9A							148.0	153.0	151.0					20																	50305609		2203	4300	6503	SO:0001583	missense	10079	0	0					g.chr20:50305609C>T	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.793G>A	chr20.hg19:g.50305609C>T	ENSP00000342481:p.Ala265Thr	0					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A265T	NM_006045.1	NP_006036.1	1	2	3	1.995265	O75110	ATP9A_HUMAN		9	1057	-			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	1	1	hg19	c.793G>A	CCDS33489.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003612	0.74932	.	.	ENSG00000054793	ENST00000338821	D	0.90444	-2.67	5.26	5.26	0.73747	5.26	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.95197	0.8313	10	0.62326	D	0.03	-19.9054	18.8514	0.92232	0.0:1.0:0.0:0.0	.	265	O75110	ATP9A_HUMAN	T	265	ENSP00000342481:A265T	ENSP00000342481:A265T	A	-	1	0	0	ATP9A	49739016	49739016	1.000000	0.71417	0.106000	0.21319	0.299000	0.27559	7.439000	0.80444	2.437000	0.82529	0.591000	0.81541	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	0	0	1		19	3	2	1		1	1	208		208	205	1	2.060000	-15.815640	1	0.170000	NM_006045			84	83		1031	1009	0		1	1		1	0	208	0		1	8.735663e-01	0	3	0	62	0	84	1031
ATP9A	10079	broad.mit.edu	37	20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	205					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)			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						CTGCGTGCAGGCCACGGGAAG	0.627																																						ENST00000338821.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(613-615)gCc>gTc		ATPase, class II, type 9A							48.0	49.0	49.0					20																	50310575		2203	4300	6503	SO:0001583	missense	10079	0	0					g.chr20:50310575G>A	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.614C>T	chr20.hg19:g.50310575G>A	ENSP00000342481:p.Ala205Val	0					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A205V	NM_006045.1	NP_006036.1	1	2	3	1.995265	O75110	ATP9A_HUMAN		7	878	-			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	1	1	hg19	c.614C>T	CCDS33489.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305346	0.60305	.	.	ENSG00000054793	ENST00000338821	D	0.90955	-2.76	5.04	5.04	0.67666	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.049853	0.85682	D	0.000000	D	0.83954	0.5366	N	0.11845	0.185	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.81035	-0.1115	10	0.52906	T	0.07	-37.016	15.3011	0.73952	0.0:0.217:0.783:0.0	.	205	O75110	ATP9A_HUMAN	V	205	ENSP00000342481:A205V	ENSP00000342481:A205V	A	-	2	0	0	ATP9A	49743982	49743982	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.348000	0.73009	2.329000	0.79093	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_006045			106	106		445	435	1		1	1		0	0	74	0		1	1	0	12	0	96	0	106	445
ATP9A	10079	broad.mit.edu	37	20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	112					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)			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						ACGGCCAGCACGAAGCCCTGC	0.627																																						ENST00000338821.5	1.000000	0.890000	1	9.900000e-01	0.990000	0.993674	0.990000	1.000000																										0				48						c.(334-336)Gtg>Atg		ATPase, class II, type 9A							77.0	52.0	61.0					20																	50329607		2203	4299	6502	SO:0001583	missense	10079	0	0					g.chr20:50329607C>T	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.334G>A	chr20.hg19:g.50329607C>T	ENSP00000342481:p.Val112Met	0					ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	p.V112M	NM_006045.1	NP_006036.1	1	2	3	1.995265	O75110	ATP9A_HUMAN		4	598	-			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	1	1	hg19	c.334G>A	CCDS33489.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761489	0.89932	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060523	0.64402	D	0.000004	D	0.93501	0.7926	H	0.94734	3.575	0.36707	D	0.880458	D;D	0.69078	0.963;0.997	P;D	0.70016	0.758;0.967	D	0.97222	0.9878	10	0.87932	D	0	-25.178	17.8464	0.88731	0.0:1.0:0.0:0.0	.	112;112	O75110-2;O75110	.;ATP9A_HUMAN	M	97;112;112	ENSP00000309086:V97M;ENSP00000342481:V112M;ENSP00000385875:V112M	ENSP00000309086:V97M	V	-	1	0	0	ATP9A	49763014	49763014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.082000	0.76851	2.216000	0.71823	0.557000	0.71058	GTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-18.341320	1	0.170000	NM_006045			10	9		57	56	1		1	1		0	0	21	0		9.972124e-01	9.967262e-01	0	15	0	48	0	10	57
SALL4	57167	broad.mit.edu	37	20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000217086.4	-	3	2710	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_ENST00000395997.3_Missense_Mutation_p.A430T|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	867					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTGCTTGGCCTGTCGGCGT	0.567																																						ENST00000217086.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2599-2601)Gcc>Acc		spalt-like transcription factor 4							62.0	54.0	57.0					20																	50405543		2203	4300	6503	SO:0001583	missense	57167	0	0					g.chr20:50405543C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2599G>A	chr20.hg19:g.50405543C>T	ENSP00000217086:p.Ala867Thr	0					SALL4_ENST00000395997.3_Missense_Mutation_p.A430T|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T	p.A867T	NM_020436.3	NP_065169.1	1	2	3	1.995265	Q9UJQ4	SALL4_HUMAN		3	2710	-			A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	1	1	hg19	c.2599G>A	CCDS13438.1	1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119256	0.56505	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09163	3.01;3.21;3.24	5.73	4.79	0.61399	5.73	4.79	0.61399	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332661	0.22021	N	0.065740	T	0.13586	0.0329	L	0.47190	1.495	0.42929	D	0.994317	B;P;P	0.48294	0.028;0.791;0.908	B;B;P	0.45406	0.02;0.196;0.479	T	0.11372	-1.0590	10	0.18710	T	0.47	-16.0971	14.6039	0.68463	0.0:0.9296:0.0:0.0704	.	430;90;867	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	T	867;430;90	ENSP00000217086:A867T;ENSP00000379319:A430T;ENSP00000360594:A90T	ENSP00000217086:A867T	A	-	1	0	0	SALL4	49838950	49838950	0.897000	0.30589	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.413000	0.46997	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	0		2	2	2	0		0	0	64		64	61	1	2.060000	-20.000000	1	0.170000				50	48		253	246	1		1	0		0	0	64	0		1	3.317166e-01	0	0	0	7	0	50	253
SALL4	57167	broad.mit.edu	37	20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000217086.4	-	2	2497	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	796					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGATGCTTTCGGCTTGACTA	0.527																																						ENST00000217086.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2386-2388)Gaa>Aaa		spalt-like transcription factor 4							77.0	75.0	76.0					20																	50406636		2203	4300	6503	SO:0001583	missense	57167	0	0					g.chr20:50406636C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2386G>A	chr20.hg19:g.50406636C>T	ENSP00000217086:p.Glu796Lys	0					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	p.E796K	NM_020436.3	NP_065169.1	1	2	3	1.995265	Q9UJQ4	SALL4_HUMAN		2	2497	-			A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	1	1	hg19	c.2386G>A	CCDS13438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687702	0.48097	.	.	ENSG00000101115	ENST00000217086	T	0.09723	2.95	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.162064	0.29246	N	0.012702	T	0.19725	0.0474	M	0.77820	2.39	0.80722	D	1	D	0.56968	0.978	B	0.43155	0.41	T	0.06826	-1.0805	10	0.25106	T	0.35	-22.0237	19.7711	0.96366	0.0:1.0:0.0:0.0	.	796	Q9UJQ4	SALL4_HUMAN	K	796	ENSP00000217086:E796K	ENSP00000217086:E796K	E	-	1	0	0	SALL4	49840043	49840043	0.929000	0.31497	0.817000	0.32601	0.670000	0.39368	3.108000	0.50337	2.654000	0.90174	0.655000	0.94253	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-3.340050	1	0.170000				78	79		343	336	1		1	0		0	0	73	0		1	2.355646e-01	0	0	0	5	0	78	343
SALL4	57167	broad.mit.edu	37	20	50406812	50406812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	ENST00000217086.4	-	2	2321	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	737					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGGCAGGACCCACTTTCCC	0.597																																						ENST00000217086.4	1.000000	0.730000	1	9.000000e-01	0.990000	0.965751	0.990000	1.000000																										0				63						c.(2209-2211)gGt>gAt		spalt-like transcription factor 4							50.0	45.0	46.0					20																	50406812		2203	4300	6503	SO:0001583	missense	57167	0	0					g.chr20:50406812C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2210G>A	chr20.hg19:g.50406812C>T	ENSP00000217086:p.Gly737Asp	0					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	p.G737D	NM_020436.3	NP_065169.1	1	2	3	1.995265	Q9UJQ4	SALL4_HUMAN		2	2321	-			A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	1	1	hg19	c.2210G>A	CCDS13438.1	1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893212	0.17613	.	.	ENSG00000101115	ENST00000217086	T	0.08896	3.04	5.54	0.963	0.19649	5.54	0.963	0.19649	.	0.340850	0.21557	N	0.072629	T	0.07413	0.0187	L	0.57536	1.79	0.22081	N	0.999371	B	0.31680	0.335	B	0.27500	0.08	T	0.26155	-1.0111	10	0.34782	T	0.22	-6.1887	5.3879	0.16227	0.1542:0.4621:0.3096:0.0741	.	737	Q9UJQ4	SALL4_HUMAN	D	737	ENSP00000217086:G737D	ENSP00000217086:G737D	G	-	2	0	0	SALL4	49840219	49840219	0.633000	0.27181	0.017000	0.16124	0.356000	0.29392	2.529000	0.45632	0.237000	0.21200	0.561000	0.74099	GGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				22	22		212	206	0		1	0		0	0	55	0		9.999988e-01	9.869127e-03	0	0	0	2	0	22	212
SALL4	57167	broad.mit.edu	37	20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A	rs374255657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000217086.4	-	2	323	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000395997.3_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGACGTGCGTCTCCTCCCG	0.488																																						ENST00000217086.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(211-213)aCg>aTg		spalt-like transcription factor 4		G	MET/THR	0,4406		0,0,2203	60.0	61.0	61.0		212	5.5	0.1	20		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	SALL4	NM_020436.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	71/1054	50408810	1,13005	2203	4300	6503	SO:0001583	missense	57167	3	121412	37				g.chr20:50408810G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.212C>T	chr20.hg19:g.50408810G>A	ENSP00000217086:p.Thr71Met	0					SALL4_ENST00000395997.3_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	p.T71M	NM_020436.3	NP_065169.1	1	2	3	1.995265	Q9UJQ4	SALL4_HUMAN		2	323	-			A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	1	1	hg19	c.212C>T	CCDS13438.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759725	0.89932	0.0	1.16E-4	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.163396	0.29314	N	0.012505	T	0.73140	0.3549	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.94	T	0.77496	-0.2566	10	0.87932	D	0	-27.7113	19.4467	0.94851	0.0:0.0:1.0:0.0	.	71;71	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	M	71	ENSP00000217086:T71M;ENSP00000379319:T71M	ENSP00000217086:T71M	T	-	2	0	0	SALL4	49842217	49842217	1.000000	0.71417	0.068000	0.19968	0.102000	0.19082	7.635000	0.83286	2.582000	0.87167	0.655000	0.94253	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				92	89		299	288	1		1	0		0	0	55	0		1	0	0	0	0	1	0	92	299
ZFP64	55734	broad.mit.edu	37	20	50701282	50701282	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	429					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)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602																																						ENST00000361387.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				33						c.(1750-1752)acC>acA		ZFP64 zinc finger protein							58.0	48.0	52.0					20																	50701282		2203	4300	6503	SO:0001819	synonymous_variant	55734	0	0					g.chr20:50701282G>T	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	ENST00000361387.2:c.1752C>A	chr20.hg19:g.50701282G>T		0					ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	p.T584T	NM_199427.2	NP_955459.2	1	2	3	1.995265	Q9NPA5	ZF64A_HUMAN		9	1812	-			Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	1	1	hg19	c.1752C>A	CCDS13439.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_018197			37	37		203	200	1		1	0		0	0	41	0		1	4.782660e-01	0	1	0	9	0	37	203
ZFP64	55734	broad.mit.edu	37	20	50769195	50769195	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.V510V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	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)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647																																						ENST00000216923.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				33						c.(1534-1536)gtC>gtT		ZFP64 zinc finger protein							22.0	25.0	24.0					20																	50769195		2202	4300	6502	SO:0001819	synonymous_variant	55734	1	119454	31				g.chr20:50769195G>A	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.1536C>T	chr20.hg19:g.50769195G>A		0					ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron	p.V512V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	1	2	3	1.995265	Q9NPA5	ZF64A_HUMAN		6	1885	-			Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	1	1	hg19	c.1536C>T	CCDS13440.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_018197			35	35		191	188	1		1	1		0	0	30	0		1	9.849749e-01	0	9	0	30	0	35	191
ZFP64	55734	broad.mit.edu	37	20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	106					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)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423																																						ENST00000216923.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999855	0.990000	1.000000																										0				33						c.(316-318)gGc>gAc		ZFP64 zinc finger protein							147.0	131.0	136.0					20																	50782534		2203	4300	6503	SO:0001583	missense	55734	0	0					g.chr20:50782534C>T	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.317G>A	chr20.hg19:g.50782534C>T	ENSP00000216923:p.Gly106Asp	0					ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR	p.G106D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	1	2	3	1.995265	Q9NPA5	ZF64A_HUMAN		3	666	-			Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	1	1	hg19	c.317G>A	CCDS13440.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426445	0.62733	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T;T;T;T	0.07908	3.25;3.24;3.15;3.15	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.25382	0.0617	L	0.56769	1.78	0.44181	D	0.996993	D;D;P	0.89917	1.0;1.0;0.747	D;D;B	0.91635	0.999;0.999;0.255	T	0.00822	-1.1552	10	0.20046	T	0.44	-34.4146	18.1401	0.89637	0.0:1.0:0.0:0.0	.	104;106;106	Q5JWM1;Q9NPA5;Q9NTW7	.;ZF64A_HUMAN;ZF64B_HUMAN	D	106;106;106;104;106	ENSP00000360573:G106D;ENSP00000355179:G106D;ENSP00000216923:G106D;ENSP00000360570:G104D	ENSP00000216923:G106D	G	-	2	0	0	ZFP64	50215941	50215941	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.755000	0.55197	2.726000	0.93360	0.655000	0.94253	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-17.333810	1	0.170000	NM_018197			38	38		247	241	1		1	1		0	0	55	0		1	9.916847e-01	0	8	0	43	0	38	247
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T	rs371445975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512																																						ENST00000371497.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(295-297)tgC>tgT		teashirt zinc finger homeobox 2		C	,	0,4406		0,0,2203	92.0	79.0	83.0		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553	1	121412	34				g.chr20:51870294C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	chr20.hg19:g.51870294C>T		0					TSHZ2_ENST00000603338.2_Silent_p.C96C|TSHZ2_ENST00000329613.6_Silent_p.C96C|RP4-678D15.1_ENST00000606932.1_RNA	p.C99C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	1	2	3	1.995265	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)	2	1184	+			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	1	1	hg19	c.297C>T	CCDS33490.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.397570	1	0.170000	NM_173485			49	48		230	225	0		1	1		0	0	59	0		1	9.999919e-01	0	7	0	78	0	49	230
TSHZ2	128553	broad.mit.edu	37	20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	292					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGATTTGAGCGTCCACATGAT	0.438																																						ENST00000371497.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(874-876)Gtc>Atc		teashirt zinc finger homeobox 2							66.0	61.0	63.0					20																	51870871		2203	4300	6503	SO:0001583	missense	128553	1	121412	28				g.chr20:51870871G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.874G>A	chr20.hg19:g.51870871G>A	ENSP00000360552:p.Val292Ile	0					TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|RP4-678D15.1_ENST00000606932.1_RNA	p.V292I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	1	2	3	1.995265	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)	2	1761	+			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	1	1	hg19	c.874G>A	CCDS33490.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637790	0.87760	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	D	0.70935	0.971	T	0.62599	-0.6820	10	0.66056	D	0.02	-3.0281	19.4463	0.94849	0.0:0.0:1.0:0.0	.	292	Q9NRE2	TSH2_HUMAN	I	292;289	ENSP00000360552:V292I;ENSP00000333114:V289I	ENSP00000333114:V289I	V	+	1	0	0	TSHZ2	51304278	51304278	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.414000	0.97362	2.663000	0.90544	0.549000	0.68633	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_173485			56	55		231	226	1		1	1		0	0	60	0		1	9.999945e-01	0	3	0	74	0	56	231
TSHZ2	128553	broad.mit.edu	37	20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	491					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACAAAAACCTTTAGACCCT	0.403																																						ENST00000371497.5	1.000000	0.370000	7.100000e-01	4.600000e-01	0.570000	0.597419	0.570000	0.550000																										0				84						c.(1471-1473)cCt>cAt		teashirt zinc finger homeobox 2							74.0	80.0	78.0					20																	51871469		2203	4300	6503	SO:0001583	missense	128553	0	0					g.chr20:51871469C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1472C>A	chr20.hg19:g.51871469C>A	ENSP00000360552:p.Pro491His	0					TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|RP4-678D15.1_ENST00000606932.1_RNA	p.P491H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	1	2	3	1.995265	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)	2	2359	+			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	1	1	hg19	c.1472C>A	CCDS33490.1	0	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679273	0.29783	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28895	1.59;1.59	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.344127	0.34700	N	0.003744	T	0.48537	0.1505	L	0.54323	1.7	0.52501	D	0.999952	D	0.69078	0.997	P	0.56865	0.808	T	0.24799	-1.0150	10	0.46703	T	0.11	-8.973	20.3655	0.98876	0.0:1.0:0.0:0.0	.	491	Q9NRE2	TSH2_HUMAN	H	491;488;17	ENSP00000360552:P491H;ENSP00000333114:P488H	ENSP00000333114:P488H	P	+	2	0	0	TSHZ2	51304876	51304876	0.966000	0.33281	0.094000	0.20943	0.013000	0.08279	4.562000	0.60816	2.822000	0.97130	0.643000	0.83706	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-2.925893	1	0.170000	NM_173485			24	23		481	474	0		1	0		0	0	115	0		9.999996e-01	7.621546e-01	0	1	0	56	0	24	481
TSHZ2	128553	broad.mit.edu	37	20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGAGGAGAAGCTGATGAAAGA	0.597																																						ENST00000371497.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1969-1971)Ctg>Atg		teashirt zinc finger homeobox 2							53.0	55.0	55.0					20																	51871966		2203	4300	6503	SO:0001583	missense	128553	0	0					g.chr20:51871966C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1969C>A	chr20.hg19:g.51871966C>A	ENSP00000360552:p.Leu657Met	0					TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|RP4-678D15.1_ENST00000606932.1_RNA	p.L657M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	1	2	3	1.995265	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)	2	2856	+			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	1	1	hg19	c.1969C>A	CCDS33490.1	1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783870	0.16189	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37915	1.17;1.17	3.64	3.64	0.41730	3.64	3.64	0.41730	.	0.960519	0.08689	N	0.908319	T	0.24470	0.0593	N	0.08118	0	0.23204	N	0.998125	B	0.27732	0.187	B	0.33890	0.172	T	0.18967	-1.0320	10	0.48119	T	0.1	-0.1339	11.1201	0.48284	0.0:1.0:0.0:0.0	.	657	Q9NRE2	TSH2_HUMAN	M	657;654;183	ENSP00000360552:L657M;ENSP00000333114:L654M	ENSP00000333114:L654M	L	+	1	2	2	TSHZ2	51305373	51305373	0.755000	0.28372	0.926000	0.36857	0.890000	0.51754	1.467000	0.35321	2.324000	0.78689	0.643000	0.83706	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1		2	2	2	0		0	0	61		61	58	1	2.060000	-20.000000	1	0.170000	NM_173485			55	55		288	284	1		1	1		0	0	61	0		1	9.999278e-01	0	14	0	62	0	55	288
ZNF217	7764	broad.mit.edu	37	20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H			O75362	ZN217_HUMAN	zinc finger protein 217	936					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)			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)			CCTCTTCTGTAATTGGCCCCG	0.547																																						ENST00000371471.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2806-2808)Tac>Cac		zinc finger protein 217							117.0	96.0	103.0					20																	52192497		2203	4300	6503	SO:0001583	missense	7764	0	0					g.chr20:52192497A>G	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.2806T>C	chr20.hg19:g.52192497A>G	ENSP00000360526:p.Tyr936His	0					RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H	p.Y936H			1	2	3	1.995265	O75362	ZN217_HUMAN	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)	4	3231	-	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)		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	1	1	hg19	c.2806T>C	CCDS13443.1	1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964716	0.34659	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	5.25	2.93	0.34026	5.25	2.93	0.34026	.	1.460060	0.03847	N	0.271603	T	0.13927	0.0337	L	0.48642	1.525	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.16305	-1.0407	10	0.51188	T	0.08	-9.4007	4.8027	0.13305	0.6039:0.159:0.2371:0.0	.	936	O75362	ZN217_HUMAN	H	936;936;24;96	ENSP00000360526:Y936H;ENSP00000304308:Y936H	ENSP00000304308:Y936H	Y	-	1	0	0	ZNF217	51625904	51625904	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.839000	0.27586	0.297000	0.22615	0.528000	0.53228	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_006526			55	52		250	247	1		1	1		0	0	34	0		1	9.999912e-01	0	14	0	67	0	55	250
ZNF217	7764	broad.mit.edu	37	20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N			O75362	ZN217_HUMAN	zinc finger protein 217	816					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)			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)			CTTCAGGTTACTTGGGGCTAA	0.567																																						ENST00000371471.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2446-2448)aGt>aAt		zinc finger protein 217							61.0	66.0	65.0					20																	52192856		2203	4300	6503	SO:0001583	missense	7764	0	0					g.chr20:52192856C>T	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.2447G>A	chr20.hg19:g.52192856C>T	ENSP00000360526:p.Ser816Asn	0					RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N	p.S816N			1	2	3	1.995265	O75362	ZN217_HUMAN	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)	4	2872	-	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)		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	1	1	hg19	c.2447G>A	CCDS13443.1	1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092140	0.36952	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09255	3.0;3.0	5.23	4.28	0.50868	5.23	4.28	0.50868	.	0.607508	0.18458	N	0.140604	T	0.08626	0.0214	L	0.39397	1.21	0.39431	D	0.967082	B	0.19200	0.034	B	0.14023	0.01	T	0.16928	-1.0386	10	0.18276	T	0.48	-30.6571	8.4592	0.32917	0.0:0.8275:0.0:0.1725	.	816	O75362	ZN217_HUMAN	N	816	ENSP00000360526:S816N;ENSP00000304308:S816N	ENSP00000304308:S816N	S	-	2	0	0	ZNF217	51626263	51626263	0.987000	0.35691	0.894000	0.35097	0.946000	0.59487	2.037000	0.41174	2.439000	0.82584	0.555000	0.69702	AGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_006526			91	90		409	400	1		1	1		0	0	82	0		1	9.998597e-01	0	12	0	48	0	91	409
ZNF217	7764	broad.mit.edu	37	20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	190					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)			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)			TCTCCAAGCCTTGCTGCAGTT	0.512																																						ENST00000371471.2	1.000000	0.440000	6.900000e-01	5.100000e-01	0.590000	0.614930	0.590000	0.580000																										0				50						c.(568-570)caA>caC		zinc finger protein 217							165.0	163.0	163.0					20																	52198796		2203	4300	6503	SO:0001583	missense	7764	0	0					g.chr20:52198796T>G	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.570A>C	chr20.hg19:g.52198796T>G	ENSP00000360526:p.Gln190His	0					ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H	p.Q190H			1	2	3	1.995265	O75362	ZN217_HUMAN	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)	2	995	-	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)		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	1	1	hg19	c.570A>C	CCDS13443.1	0	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310239	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10288	2.89;2.89	5.15	-10.3	0.00346	5.15	-10.3	0.00346	.	0.432865	0.11934	U	0.515418	T	0.12390	0.0301	L	0.32530	0.975	0.38519	D	0.948665	D	0.62365	0.991	P	0.57324	0.818	T	0.57820	-0.7745	10	0.49607	T	0.09	-11.1182	12.6688	0.56857	0.0:0.622:0.1:0.2781	.	190	O75362	ZN217_HUMAN	H	190	ENSP00000360526:Q190H;ENSP00000304308:Q190H	ENSP00000304308:Q190H	Q	-	3	2	2	ZNF217	51632203	51632203	0.000000	0.05858	0.234000	0.24042	0.679000	0.39708	-1.241000	0.02911	-2.023000	0.00937	0.482000	0.46254	CAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1		2	2	2	0		0	0	198		198	193	1	2.060000	-20.000000	1	0.170000	NM_006526			51	51		974	948	0		1	0		0	0	198	0		1	6.415412e-01	0	1	0	42	0	51	974
ZNF217	7764	broad.mit.edu	37	20	52198924	52198924	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000302342.3_Silent_p.R148R|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	148					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)			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)			TTGTGTGTTCTCATGTGGATC	0.408																																						ENST00000371471.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(442-444)Aga>Cga		zinc finger protein 217							150.0	140.0	143.0					20																	52198924		2203	4300	6503	SO:0001819	synonymous_variant	7764	0	0					g.chr20:52198924T>G	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.442A>C	chr20.hg19:g.52198924T>G		0					ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.R148R	p.R148R			1	2	3	1.995265	O75362	ZN217_HUMAN	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)	2	867	-	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)		E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	1	1	hg19	c.442A>C	CCDS13443.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-20.000000	1	0.170000	NM_006526			201	196		836	817	1		1	1		0	0	183	0		1	9.985248e-01	0	8	0	34	0	201	836
PROKR2	128674	broad.mit.edu	37	20	5283374	5283374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5283374G>A	ENST00000217270.3	-	2	466	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PROKR2_ENST00000546004.1_Missense_Mutation_p.A156V	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	156					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			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						GTGAACGATGGCGAGATATCT	0.488										HNSCC(71;0.22)																												ENST00000217270.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(466-468)gCc>gTc		prokineticin receptor 2							75.0	82.0	80.0					20																	5283374		2203	4300	6503	SO:0001583	missense	128674	0	0					g.chr20:5283374G>A	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.467C>T	chr20.hg19:g.5283374G>A	ENSP00000217270:p.Ala156Val	0	HNSCC(71;0.22)				PROKR2_ENST00000546004.1_Missense_Mutation_p.A156V	p.A156V	NM_144773.2	NP_658986.1	1	2	3	1.995265	Q8NFJ6	PKR2_HUMAN		2	466	-			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	1	0	hg19	c.467C>T	CCDS13089.1	1	.	.	.	.	.	.	.	.	.	.	G	3.340	-0.134891	0.06711	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.52057	0.68;0.68	5.28	5.28	0.74379	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.27944	0.81	0.80722	D	1	B	0.24258	0.1	B	0.32289	0.143	T	0.26643	-1.0097	10	0.41790	T	0.15	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	156	Q8NFJ6	PKR2_HUMAN	V	156	ENSP00000440790:A156V;ENSP00000217270:A156V	ENSP00000217270:A156V	A	-	2	0	0	PROKR2	5231374	5231374	1.000000	0.71417	0.827000	0.32855	0.029000	0.11900	9.294000	0.96088	2.465000	0.83290	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.504641	1	0.170000	NM_144773			81	79		342	336	0		1			0	0	80	0		1	0	0	0	0	0	0	81	342
CYP24A1	1591	broad.mit.edu	37	20	52788203	52788203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395955.3_Silent_p.G152G|CYP24A1_ENST00000395954.3_Silent_p.G10G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	152					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)			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)	GCCAGTCTTCCCCTTCCCTGT	0.463																																						ENST00000216862.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(454-456)ggG>ggA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						112.0	115.0	114.0					20																	52788203		2203	4300	6503	SO:0001819	synonymous_variant	1591	0	0					g.chr20:52788203C>T	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.456G>A	chr20.hg19:g.52788203C>T		0					CYP24A1_ENST00000395954.3_Silent_p.G10G|CYP24A1_ENST00000395955.3_Silent_p.G152G	p.G152G	NM_000782.4	NP_000773.2	1	2	3	1.995265	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)	3	849	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	1	1	hg19	c.456G>A	CCDS33491.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2	1	0	0		2	2	2	0		0	0	162		162	161	1	2.060000	-3.229408	1	0.170000				116	111		575	556	1		1	1		0	0	162	0		1	9.999986e-01	0	47	0	48	0	116	575
DOK5	55816	broad.mit.edu	37	20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	162	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458																																						ENST00000262593.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(484-486)gAg>gCg		docking protein 5							151.0	139.0	143.0					20																	53208230		2203	4300	6503	SO:0001583	missense	55816	0	0					g.chr20:53208230A>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.485A>C	chr20.hg19:g.53208230A>C	ENSP00000262593:p.Glu162Ala	0					DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	p.E162A	NM_018431.3	NP_060901.2	1	2	3	1.995265	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)	5	835	+			Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	1	1	hg19	c.485A>C	CCDS13446.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697260	0.88830	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75477	-0.94;-0.94	5.66	5.66	0.87406	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.76002	2.32	0.58432	D	0.999999	P;D	0.58970	0.906;0.984	P;D	0.72075	0.651;0.976	D	0.84323	0.0517	10	0.36615	T	0.2	-21.0585	14.721	0.69305	1.0:0.0:0.0:0.0	.	54;162	Q9P104-2;Q9P104	.;DOK5_HUMAN	A	162;54	ENSP00000262593:E162A;ENSP00000379270:E54A	ENSP00000262593:E162A	E	+	2	0	0	DOK5	52641637	52641637	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.270000	0.95690	2.155000	0.67459	0.528000	0.53228	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000				74	73		318	315	1		1	1		0	0	93	0		1	9.244339e-01	0	2	0	19	0	74	318
DOK5	55816	broad.mit.edu	37	20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	236	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAGCACGAGCGCTTGCTACA	0.507																																						ENST00000262593.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(706-708)Cgc>Tgc		docking protein 5							71.0	65.0	67.0					20																	53227033		2203	4300	6503	SO:0001583	missense	55816	3	121404	34				g.chr20:53227033C>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.706C>T	chr20.hg19:g.53227033C>T	ENSP00000262593:p.Arg236Cys	0					DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	p.R236C	NM_018431.3	NP_060901.2	1	2	3	1.995265	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)	6	1056	+			Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	1	1	hg19	c.706C>T	CCDS13446.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961252	0.92791	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.83250	-1.7;-1.7	5.78	5.78	0.91487	5.78	5.78	0.91487	Insulin receptor substrate-1, PTB (1);	0.048112	0.85682	D	0.000000	D	0.89687	0.6787	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.975	P;B	0.57846	0.828;0.232	D	0.90145	0.4216	10	0.66056	D	0.02	-34.542	19.0159	0.92894	0.0:1.0:0.0:0.0	.	128;236	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	236;128	ENSP00000262593:R236C;ENSP00000379270:R128C	ENSP00000262593:R236C	R	+	1	0	0	DOK5	52660440	52660440	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.543000	0.60684	2.732000	0.93576	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	0		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000				43	42		229	228	1		1	1		0	0	66	0		1	9.070897e-01	0	4	0	20	0	43	229
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627																																						ENST00000262593.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R265H(1)	large_intestine(1)	19						c.(793-795)cGc>cAc		docking protein 5							56.0	51.0	53.0					20																	53260055		2203	4300	6503	SO:0001583	missense	55816	4	121412	36				g.chr20:53260055G>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.794G>A	chr20.hg19:g.53260055G>A	ENSP00000262593:p.Arg265His	0					DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	p.R265H	NM_018431.3	NP_060901.2	1	2	3	1.995265	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)	7	1144	+			Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	1	1	hg19	c.794G>A	CCDS13446.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	0	DOK5	52693462	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				62	62		248	246	1		1	0		0	0	48	0		1	9.137915e-01	0	0	0	19	0	62	248
CBLN4	140689	broad.mit.edu	37	20	54575785	54575785	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor						protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAAAACACACACCTGGATAGT	0.363																																						ENST00000064571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e2+1		cerebellin 4 precursor							146.0	150.0	148.0					20																	54575785		2203	4300	6503	SO:0001630	splice_region_variant	140689	0	0					g.chr20:54575785A>G	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.408+1T>C	chr20.hg19:g.54575785A>G		0							NM_080617.5	NP_542184.1	1	2	3	1.995265	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)	2	1709	-			A8K0S5	Splice_Site	SNP	ENST00000064571.2	1	1	hg19		CCDS13448.1	1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006394	0.54361	.	.	ENSG00000054803	ENST00000064571	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5198	0.75857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CBLN4	54009192	54009192	1.000000	0.71417	0.992000	0.48379	0.536000	0.34869	8.896000	0.92521	2.077000	0.62373	0.374000	0.22700	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_080617	Intron		97	95		495	485	1		1			0	0	98	0		1	0	0	0	0	0	0	97	495
CBLN4	140689	broad.mit.edu	37	20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	41					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CACACCACCAGACACTTGCCC	0.692																																						ENST00000064571.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				17						c.(121-123)Ctg>Atg		cerebellin 4 precursor							48.0	46.0	47.0					20																	54579107		2203	4300	6503	SO:0001583	missense	140689	0	0					g.chr20:54579107G>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.121C>A	chr20.hg19:g.54579107G>T	ENSP00000064571:p.Leu41Met	0						p.L41M	NM_080617.5	NP_542184.1	1	2	3	1.995265	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)	1	1421	-			A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	1	1	hg19	c.121C>A	CCDS13448.1	1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250479	0.59212	.	.	ENSG00000054803	ENST00000064571	D	0.86230	-2.09	4.98	2.99	0.34606	4.98	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.78456	2.415	0.58432	D	0.999996	B	0.32338	0.365	B	0.32090	0.14	D	0.84230	0.0466	10	0.40728	T	0.16	-14.5029	11.7116	0.51628	0.1514:0.0:0.8486:0.0	.	41	Q9NTU7	CBLN4_HUMAN	M	41	ENSP00000064571:L41M	ENSP00000064571:L41M	L	-	1	2	2	CBLN4	54012514	54012514	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.247000	0.58750	1.222000	0.43521	0.655000	0.94253	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_080617			41	41		235	233	0		1	0		0	0	46	0		1	0	0	0	0	1	0	41	235
MC3R	4159	broad.mit.edu	37	20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	225					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597																																						ENST00000243911.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(673-675)Cca>Tca		melanocortin 3 receptor							189.0	126.0	147.0					20																	54824572		2203	4300	6503	SO:0001583	missense	4159	0	0					g.chr20:54824572C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.673C>T	chr20.hg19:g.54824572C>T	ENSP00000243911:p.Pro225Ser	0						p.P225S	NM_019888.3	NP_063941.3	1	2	3	1.995265	P41968	MC3R_HUMAN	Colorectal(105;0.202)	1	785	+			Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	1	1	hg19	c.673C>T	CCDS13449.2	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274576	0.59649	.	.	ENSG00000124089	ENST00000243911	T	0.70869	-0.52	4.91	4.91	0.64330	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.56340	1.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.51188	T	0.08	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	262	P41968	MC3R_HUMAN	S	225	ENSP00000243911:P225S	ENSP00000243911:P225S	P	+	1	0	0	MC3R	54257979	54257979	1.000000	0.71417	0.983000	0.44433	0.222000	0.24845	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	CCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.449193	1	0.170000				72	71		299	292	1		1			0	0	53	1		1	0	0	0	0	0	0	72	299
MC3R	4159	broad.mit.edu	37	20	54824796	54824796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	299					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CACTCATCTACGCTTTCCGGA	0.537																																						ENST00000243911.2	1.000000	0.190000	3.800000e-01	2.300000e-01	0.290000	0.335696	0.290000	0.290000																										0				26						c.(895-897)taC>taT		melanocortin 3 receptor							188.0	175.0	179.0					20																	54824796		2203	4300	6503	SO:0001819	synonymous_variant	4159	1	121412	35				g.chr20:54824796C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.897C>T	chr20.hg19:g.54824796C>T		0						p.Y299Y	NM_019888.3	NP_063941.3	1	2	3	1.995265	P41968	MC3R_HUMAN	Colorectal(105;0.202)	1	1009	+			Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	1	1	hg19	c.897C>T	CCDS13449.2	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	0	0	1		2	2	2	0		0	0	189		189	186	1	2.060000	-2.759877	1	0.170000				24	23		945	919	0		1			0	0	189	0		9.999995e-01	0	0	0	0	0	0	24	945
CSTF1	1477	broad.mit.edu	37	20	54974226	54974226	+	Silent	SNP	C	C	T	rs373049003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54974226C>T	ENST00000217109.4	+	5	1201	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	283					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GAAGCAAGGACGGCTGCATCA	0.393																																						ENST00000217109.4	1.000000	0.110000	3.000000e-01	1.500000e-01	0.210000	0.259668	0.210000	0.210000																										0				15						c.(847-849)gaC>gaT		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							182.0	159.0	166.0					20																	54974226		2203	4300	6503	SO:0001819	synonymous_variant	1477	1	121412	33				g.chr20:54974226C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.849C>T	chr20.hg19:g.54974226C>T		0					CSTF1_ENST00000493039.1_3'UTR	p.D283D	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	1	2	3	1.995265	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)	5	1201	+			Q5QPD8	Silent	SNP	ENST00000217109.4	0	1	hg19	c.849C>T	CCDS13452.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	0	0	0		2	2	2	0		0	0	125		125	125	1	2.060000	-2.936023	1	0.170000	NM_001033521			11	10		618	609	0		1	1		0	0	125	0		9.981971e-01	7.504018e-01	0	7	0	144	0	11	618
CSTF1	1477	broad.mit.edu	37	20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	428					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACCGGAGATCGACCACTGAC	0.582																																						ENST00000217109.4	1.000000	0.280000	5.600000e-01	3.500000e-01	0.440000	0.477788	0.440000	0.430000																										0				15						c.(1282-1284)tCg>tTg		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							135.0	126.0	129.0					20																	54978770		2203	4300	6503	SO:0001583	missense	1477	0	0					g.chr20:54978770C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1283C>T	chr20.hg19:g.54978770C>T	ENSP00000217109:p.Ser428Leu	0					CSTF1_ENST00000493039.1_3'UTR	p.S428L	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	1	2	3	1.995265	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)	6	1635	+			Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	1	1	hg19	c.1283C>T	CCDS13452.1	0	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166648	0.57476	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.57907	0.37	5.38	5.38	0.77491	5.38	5.38	0.77491	WD40-repeat-containing domain (1);	0.054825	0.85682	D	0.000000	T	0.48259	0.1490	L	0.38175	1.15	0.58432	D	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.43261	-0.9402	10	0.72032	D	0.01	-2.8483	19.5609	0.95371	0.0:1.0:0.0:0.0	.	428	Q05048	CSTF1_HUMAN	L	428;415	ENSP00000217109:S428L	ENSP00000217109:S428L	S	+	2	0	0	CSTF1	54412177	54412177	1.000000	0.71417	0.566000	0.28421	0.362000	0.29581	7.591000	0.82666	2.682000	0.91365	0.644000	0.83932	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	1	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-3.508432	1	0.170000	NM_001033521			23	22		598	581	0		1	1		0	0	126	0		9.999991e-01	9.863674e-01	0	12	0	167	0	23	598
CASS4	57091	broad.mit.edu	37	20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000360314.3	+	6	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	557					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGCCCAGATGACCTTGA	0.488																																						ENST00000360314.3	1.000000	0.670000	1	8.100000e-01	0.990000	0.930408	0.990000	1.000000																										0				54						c.(1669-1671)Gat>Tat		Cas scaffolding protein family member 4							93.0	84.0	87.0					20																	55027901		2203	4300	6503	SO:0001583	missense	57091	0	0					g.chr20:55027901G>T	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.1669G>T	chr20.hg19:g.55027901G>T	ENSP00000353462:p.Asp557Tyr	0					CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	p.D557Y	NM_001164116.1	NP_001157588.1	1	2	3	1.995265	Q9NQ75	CASS4_HUMAN		6	1894	+			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	1	1	hg19	c.1669G>T	CCDS33492.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875157	0.91664	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85197	2.74	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	0.69840	-0.5036	10	0.87932	D	0	-26.0262	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;557;557	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	557	ENSP00000353462:D557Y;ENSP00000360387:D557Y	ENSP00000353462:D557Y	D	+	1	0	0	CASS4	54461308	54461308	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_020356			28	27		310	304	0		1	0		0	0	69	0		1	8.806362e-02	0	0	0	6	0	28	310
GPCPD1	56261	broad.mit.edu	37	20	5539456	5539456	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	514	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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348																																						ENST00000379019.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				16						c.(1540-1542)caA>caG		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							53.0	57.0	56.0					20																	5539456		2203	4300	6503	SO:0001819	synonymous_variant	56261	0	0					g.chr20:5539456T>C		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.1542A>G	chr20.hg19:g.5539456T>C		0					GPCPD1_ENST00000481038.1_5'UTR	p.Q514Q	NM_019593.3	NP_062539.1	1	2	3	1.995265	Q9NPB8	GPCP1_HUMAN		18	1754	-			D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	1	1	hg19	c.1542A>G	CCDS13090.1	1	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742788	0.15642	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	-1.59	0.08453	5.22	-1.59	0.08453	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-9.3187	1.6724	0.02814	0.1453:0.2905:0.2971:0.2671	.	.	.	.	E	106	.	.	K	-	1	0	0	GPCPD1	5487456	5487456	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.952000	0.03881	-0.142000	0.11354	0.533000	0.62120	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-18.979120	1	0.170000	NM_019593			29	28		118	113	1		1	0		0	0	30	0		1	9.982708e-01	0	0	0	44	0	29	118
TFAP2C	7022	broad.mit.edu	37	20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697																																						ENST00000201031.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(196-198)Cag>Tag		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							31.0	31.0	31.0					20																	55206408		2203	4300	6503	SO:0001587	stop_gained	7022	0	0					g.chr20:55206408C>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.196C>T	chr20.hg19:g.55206408C>T	ENSP00000201031:p.Gln66*	0					TFAP2C_ENST00000544508.1_5'UTR	p.Q66*	NM_003222.3	NP_003213.1	1	2	3	1.995265	Q92754	AP2C_HUMAN	Colorectal(105;0.229)	2	439	+			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Nonsense_Mutation	SNP	ENST00000201031.2	0	1	hg19	c.196C>T	CCDS13454.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.629559	0.97718	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.215838	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-23.8604	19.7658	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	66;54	.	ENSP00000201031:Q66X	Q	+	1	0	0	TFAP2C	54639815	54639815	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.977000	0.76141	2.683000	0.91414	0.561000	0.74099	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_003222			53	52		221	215	0		1	1		0	0	49	0		1	5.474673e-01	0	6	0	3	0	53	221
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of 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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517																																						ENST00000395863.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1168-1170)aCg>aTg		bone morphogenetic protein 7							105.0	86.0	92.0					20																	55746142		2203	4300	6503	SO:0001583	missense	655	1	121412	30				g.chr20:55746142G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1169C>T	chr20.hg19:g.55746142G>A	ENSP00000379204:p.Thr390Met	0					BMP7_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	p.T390M	NM_001719.2	NP_001710.1	1	2	3	1.995265	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)	7	1674	-	all_lung(29;0.0133)|Melanoma(10;0.242)		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	1	1	hg19	c.1169C>T	CCDS13455.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	0	BMP7	55179549	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				48	47		211	207	1		1	0		0	0	55	0		1	4.583686e-01	0	0	0	8	0	48	211
RAE1	8480	broad.mit.edu	37	20	55949767	55949767	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000395840.2_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	310					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)			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)			AACTAAAAACTTCGGAACAGT	0.453																																						ENST00000395841.2	1.000000	0.160000	3.900000e-01	2.200000e-01	0.290000	0.330123	0.290000	0.280000																										0				21						c.(928-930)acT>acC		ribonucleic acid export 1							149.0	136.0	140.0					20																	55949767		2203	4300	6503	SO:0001819	synonymous_variant	8480	1	121412	36				g.chr20:55949767T>C	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.930T>C	chr20.hg19:g.55949767T>C		0					RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T	p.T310T	NM_003610.3	NP_003601.1	1	2	3	1.995265	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)	11	1350	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Silent	SNP	ENST00000395841.2	1	1	hg19	c.930T>C	CCDS13458.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2	0	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-3.327252	1	0.170000				15	15		615	609	0		1	1		0	0	120	0		9.998627e-01	9.528089e-01	0	4	0	208	0	15	615
PCK1	5105	broad.mit.edu	37	20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	392					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)			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)			AAGGAGTGGAGCTCAGAGGAT	0.582																																						ENST00000319441.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1174-1176)aGc>aTc		phosphoenolpyruvate carboxykinase 1 (soluble)							82.0	73.0	76.0					20																	56139438		2203	4300	6503	SO:0001583	missense	5105	0	0					g.chr20:56139438G>T		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.1175G>T	chr20.hg19:g.56139438G>T	ENSP00000319814:p.Ser392Ile	0					PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	p.S392I	NM_002591.3	NP_002582.3	1	2	3	1.995265	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)	7	1339	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	1	1	hg19	c.1175G>T	CCDS13460.1	1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891225	0.17613	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04551	3.6;3.6;3.6	5.2	-3.57	0.04612	5.2	-3.57	0.04612	.	0.544994	0.22389	N	0.060701	T	0.04363	0.0120	L	0.42632	1.34	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.35624	-0.9781	10	0.59425	D	0.04	-6.392	10.5693	0.45192	0.257:0.5833:0.1597:0.0	.	75;392	B4DT64;P35558	.;PCKGC_HUMAN	I	74;392;75;260	ENSP00000319814:S392I;ENSP00000445767:S75I;ENSP00000444342:S260I	ENSP00000319814:S392I	S	+	2	0	0	PCK1	55572844	55572844	0.001000	0.12720	0.001000	0.08648	0.212000	0.24457	-0.015000	0.12634	-0.255000	0.09486	0.655000	0.94253	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				57	56		257	251	1		1	1		0	0	67	0		1	8.959269e-02	0	2	0	1	0	57	257
PCK1	5105	broad.mit.edu	37	20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	398					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)			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)			ATAGGGGAACCTTGTGCCCAC	0.597																																						ENST00000319441.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1192-1194)cCt>cTt		phosphoenolpyruvate carboxykinase 1 (soluble)							89.0	90.0	90.0					20																	56139544		2203	4300	6503	SO:0001583	missense	5105	1	121412	39				g.chr20:56139544C>T		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.1193C>T	chr20.hg19:g.56139544C>T	ENSP00000319814:p.Pro398Leu	0					PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	p.P398L	NM_002591.3	NP_002582.3	1	2	3	1.995265	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)	8	1357	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	1	1	hg19	c.1193C>T	CCDS13460.1	1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.13307	2.6;2.6	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.046303	0.85682	D	0.000000	T	0.30355	0.0762	M	0.88570	2.965	0.80722	D	1	B;B	0.34372	0.057;0.451	B;B	0.37508	0.07;0.252	T	0.11991	-1.0565	10	0.45353	T	0.12	-14.1572	19.7244	0.96157	0.0:1.0:0.0:0.0	.	81;398	B4DT64;P35558	.;PCKGC_HUMAN	L	80;398;81	ENSP00000319814:P398L;ENSP00000445767:P81L	ENSP00000319814:P398L	P	+	2	0	0	PCK1	55572950	55572950	0.994000	0.37717	0.842000	0.33263	0.714000	0.41099	7.345000	0.79337	2.659000	0.90383	0.655000	0.94253	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-3.426954	1	0.170000				96	94		380	375	1		1	0		0	0	115	0		1	1.074273e-01	0	1	0	2	0	96	380
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716																																						ENST00000341744.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(685-687)ccG>ccT		prostate transmembrane protein, androgen induced 1							13.0	16.0	15.0					20																	56227286		2193	4289	6482	SO:0001819	synonymous_variant	56937	0	0					g.chr20:56227286C>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.687G>T	chr20.hg19:g.56227286C>A		0					PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P	p.P229P	NM_020182.4	NP_064567.2	1	2	3	1.995265	Q969W9	PMEPA_HUMAN		4	1006	-			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	1	1	hg19	c.687G>T	CCDS13463.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_020182			29	28		108	104	0		1	1		0	0	18	0		1	1	0	236	0	336	0	29	108
PMEPA1	56937	broad.mit.edu	37	20	56227303	56227303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227303G>A	ENST00000341744.3	-	4	989	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	PMEPA1_ENST00000265626.4_Missense_Mutation_p.R174C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R189C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R174C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R174C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	224					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCTCCATGCGCCCGCCGCTG	0.692																																						ENST00000341744.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				16						c.(670-672)Cgc>Tgc		prostate transmembrane protein, androgen induced 1							15.0	18.0	17.0					20																	56227303		2196	4295	6491	SO:0001583	missense	56937	0	0					g.chr20:56227303G>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.670C>T	chr20.hg19:g.56227303G>A	ENSP00000345826:p.Arg224Cys	0					PMEPA1_ENST00000395814.1_Missense_Mutation_p.R174C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R189C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R174C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R174C	p.R224C	NM_020182.4	NP_064567.2	1	2	3	1.995265	Q969W9	PMEPA_HUMAN		4	989	-			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	1	0	hg19	c.670C>T	CCDS13463.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208425	0.79240	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.55760	0.5;0.55;0.55;0.55;0.55;0.58	5.47	4.45	0.53987	5.47	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74016	-0.3800	10	0.87932	D	0	-47.2292	12.9373	0.58322	0.0:0.0:0.7534:0.2465	.	189;224	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	224;189;174;174;174;196	ENSP00000345826:R224C;ENSP00000344014:R189C;ENSP00000379161:R174C;ENSP00000265626:R174C;ENSP00000379159:R174C;ENSP00000401506:R196C	ENSP00000265626:R174C	R	-	1	0	0	PMEPA1	55660709	55660709	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.650000	0.61440	2.555000	0.86185	0.650000	0.86243	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_020182			25	24		121	116	0		1	1		0	0	22	0		9.999999e-01	1	0	159	0	240	0	25	121
PMEPA1	56937	broad.mit.edu	37	20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	219					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCGCTGCCGTAGCACGTGGCG	0.682																																						ENST00000341744.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(655-657)Tac>Aac		prostate transmembrane protein, androgen induced 1							20.0	24.0	23.0					20																	56227318		2199	4296	6495	SO:0001583	missense	56937	0	0					g.chr20:56227318A>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.655T>A	chr20.hg19:g.56227318A>T	ENSP00000345826:p.Tyr219Asn	0					PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N	p.Y219N	NM_020182.4	NP_064567.2	1	2	3	1.995265	Q969W9	PMEPA_HUMAN		4	974	-			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	1	1	hg19	c.655T>A	CCDS13463.1	1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636707	0.67130	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.44881	0.91;0.92;0.92;0.92;0.92;0.94	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.073958	0.56097	D	0.000029	T	0.59074	0.2167	M	0.64997	1.995	0.58432	D	0.999995	D;D	0.67145	0.992;0.996	P;D	0.64237	0.826;0.923	T	0.56920	-0.7899	10	0.33940	T	0.23	-37.163	15.6511	0.77095	1.0:0.0:0.0:0.0	.	184;219	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	219;184;169;169;169;191	ENSP00000345826:Y219N;ENSP00000344014:Y184N;ENSP00000379161:Y169N;ENSP00000265626:Y169N;ENSP00000379159:Y169N;ENSP00000401506:Y191N	ENSP00000265626:Y169N	Y	-	1	0	0	PMEPA1	55660724	55660724	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.663000	0.91134	2.093000	0.63338	0.528000	0.53228	TAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_020182			48	45		172	167	0		1	1		0	0	26	0		1	1	0	249	0	247	0	48	172
PMEPA1	56937	broad.mit.edu	37	20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	151					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTCTGACAGCGAGATGGTGGG	0.701																																						ENST00000341744.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(451-453)tCg>tTg		prostate transmembrane protein, androgen induced 1							35.0	37.0	36.0					20																	56227521		2203	4300	6503	SO:0001583	missense	56937	3	121378	29				g.chr20:56227521G>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.452C>T	chr20.hg19:g.56227521G>A	ENSP00000345826:p.Ser151Leu	0					PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L	p.S151L	NM_020182.4	NP_064567.2	1	2	3	1.995265	Q969W9	PMEPA_HUMAN		4	771	-			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	1	1	hg19	c.452C>T	CCDS13463.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797080	0.90453	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.53423	0.78;0.8;0.8;0.8;0.8;0.82;0.62	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.140044	0.48767	D	0.000177	T	0.69233	0.3088	M	0.75777	2.31	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;P	0.65773	0.938;0.851	T	0.72484	-0.4279	10	0.72032	D	0.01	-23.06	19.2379	0.93869	0.0:0.0:1.0:0.0	.	116;151	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	151;116;101;101;101;123;208	ENSP00000345826:S151L;ENSP00000344014:S116L;ENSP00000379161:S101L;ENSP00000265626:S101L;ENSP00000379159:S101L;ENSP00000401506:S123L;ENSP00000379164:S208L	ENSP00000265626:S101L	S	-	2	0	0	PMEPA1	55660927	55660927	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.725000	0.84808	2.537000	0.85549	0.655000	0.94253	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-4.489071	1	0.170000	NM_020182			40	39		120	120	1		1	1		0	0	26	0		1	1	0	278	0	440	0	40	120
VAPB	9217	broad.mit.edu	37	20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|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)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413																																						ENST00000475243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(532-534)Ggt>Agt		VAMP (vesicle-associated membrane protein)-associated protein B and C							94.0	88.0	90.0					20																	57016098		2203	4300	6503	SO:0001583	missense	9217	0	0					g.chr20:57016098G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.532G>A	chr20.hg19:g.57016098G>A	ENSP00000417175:p.Gly178Ser	0					VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	p.G178S	NM_004738.4	NP_004729.1	1	2	3	1.995265	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)	5	870	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	1	1	hg19	c.532G>A	CCDS33498.1	1	.	.	.	.	.	.	.	.	.	.	G	3.469	-0.108439	0.06924	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.49	2.51	0.30379	5.49	2.51	0.30379	.	0.222846	0.47093	N	0.000241	T	0.11410	0.0278	N	0.08118	0	0.09310	N	0.999994	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.31308	-0.9948	10	0.09338	T	0.73	-9.6621	4.6963	0.12806	0.2107:0.0:0.5376:0.2517	.	55;178	B4DNS4;O95292	.;VAPB_HUMAN	S	178	ENSP00000417175:G178S	ENSP00000417175:G178S	G	+	1	0	0	VAPB	56449504	56449504	0.967000	0.33354	0.021000	0.16686	0.984000	0.73092	0.859000	0.27858	0.297000	0.22615	-0.157000	0.13467	GGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2	0	0	1		15	12	2	1		1	1	61		61	61	1	2.060000	-20.000000	1	0.170000				46	46		219	215	1		1	1		1	0	61	0		9.999939e-01	9.998689e-01	0	64	0	121	0	46	219
APCDD1L	164284	broad.mit.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																						ENST00000371149.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999715	0.990000	1.000000																										0				18						c.(859-861)tCg>tTg		adenomatosis polyposis coli down-regulated 1-like							10.0	10.0	10.0					20																	57036492		2164	4254	6418	SO:0001583	missense	164284	1	118090	21				g.chr20:57036492G>A	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>T	chr20.hg19:g.57036492G>A	ENSP00000360191:p.Ser287Leu	0					APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L	p.S287L	NM_153360.1	NP_699191.1	1	2	3	1.995265	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)	4	1090	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)			Missense_Mutation	SNP	ENST00000371149.3	0	1	hg19	c.860C>T	CCDS13467.1	1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	0	APCDD1L	56469898	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_153360			15	14		63	62	1		1	0		0	0	10	0		9.999117e-01	6.605907e-01	0	0	0	11	0	15	63
GNAS	2778	broad.mit.edu	37	20	57415518	57415518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.I119I			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCCGAAATCGAGTCCGAGA	0.637			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		20	20q13.2	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	yes	McCune-Albright syndrome; pseudohypoparathyroidism, type IA	E	E			pituitary adenoma		0				441						c.(355-357)atC>atT		GNAS complex locus							102.0	95.0	97.0					20																	57415518		2203	4300	6503	SO:0001819	synonymous_variant	2778	0	0					g.chr20:57415518C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.357C>T	chr20.hg19:g.57415518C>T		0	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Silent_p.I119I|GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA	p.I119I			1	2	3	1.995265	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)	1	746	+	all_lung(29;0.0104)		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	1	1	hg19	c.357C>T	CCDS13471.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	1	0	0		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_000516			97	96		476	471	1		1	0	1	0	0	94	190		1	9.999945e-01	1	0	57	86	208	97	476
GNAS	2778	broad.mit.edu	37	20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCTGGGTCCCAGGCGCCAT	0.667			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999128	0.990000	1.000000				Dom	yes			Dom	yes		20	20q13.2	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	yes	McCune-Albright syndrome; pseudohypoparathyroidism, type IA	E	E			pituitary adenoma		0				441						c.(832-834)Cca>Tca		GNAS complex locus							13.0	15.0	14.0					20																	57429152		1846	4021	5867	SO:0001583	missense	2778	1	120388	26				g.chr20:57429152C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.832C>T	chr20.hg19:g.57429152C>T	ENSP00000360141:p.Pro278Ser	0	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000464624.2_3'UTR	p.P278S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	1	2	3	1.995265	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)	1	1384	+	all_lung(29;0.0104)		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	1	1	hg19	c.832C>T	CCDS46622.1	1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316749	0.10845	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88354	-2.37;-2.37	4.03	1.02	0.19986	4.03	1.02	0.19986	.	3.592490	0.01353	N	0.011966	T	0.80592	0.4652	N	0.19112	0.55	0.49051	D	0.999745	B	0.20550	0.046	B	0.12156	0.007	T	0.63497	-0.6624	9	.	.	.	.	6.0166	0.19607	0.0:0.6647:0.0:0.3353	.	278	Q5JWF2	GNAS1_HUMAN	S	278	ENSP00000360141:P278S;ENSP00000360143:P278S	.	P	+	1	0	0	GNAS	56862547	56862547	0.381000	0.25140	0.288000	0.24862	0.073000	0.16967	0.624000	0.24462	0.270000	0.21984	0.561000	0.74099	CCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_000516			22	20		136	132	1		1		1	0	0	34	542		9.999989e-01	0	1	0	154	0	593	22	136
GNAS	2778	broad.mit.edu	37	20	57484236	57484236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	ENST00000371085.3	+	7	974	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000371100.4_Missense_Mutation_p.V827M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAAGATCGACGTGATCAAGCA	0.512			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371085.3	1.000000	0.380000	5.800000e-01	4.400000e-01	0.500000	0.532073	0.500000	0.500000				Dom	yes			Dom	yes		20	20q13.2	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	yes	McCune-Albright syndrome; pseudohypoparathyroidism, type IA	E	E			pituitary adenoma		0				441						c.(550-552)Gtg>Atg		GNAS complex locus							256.0	250.0	252.0					20																	57484236		2203	4300	6503	SO:0001583	missense	2778	0	0					g.chr20:57484236G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.550G>A	chr20.hg19:g.57484236G>A	ENSP00000360126:p.Val184Met	0	TSP Lung(22;0.16)				GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.V827M	p.V184M	NM_000516.4	NP_000507.1	1	2	3	1.995265	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)	7	974	+	all_lung(29;0.0104)		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	1	1	hg19	c.550G>A	CCDS13472.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.938338|2.938338	0.52972|0.52972	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|D;D;D;D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.94|4.94	2.98|2.98	0.34508|0.34508	4.94|4.94	2.98|2.98	0.34508|0.34508	.|G protein alpha subunit, helical insertion (4);	.|0.238750	.|0.39687	.|N	.|0.001297	D|D	0.89935|0.89935	0.6859|0.6859	L|L	0.51422|0.51422	1.61|1.61	0.42872|0.42872	D|D	0.994142|0.994142	.|P;P;B;D	.|0.76494	.|0.65;0.76;0.412;0.999	.|B;B;B;D	.|0.69142	.|0.221;0.322;0.141;0.962	D|D	0.88589|0.88589	0.3142|0.3142	5|10	.|0.66056	.|D	.|0.02	.|.	4.7344|4.7344	0.12981|0.12981	0.407:0.0:0.593:0.0|0.407:0.0:0.593:0.0	.|.	.|184;185;169;827	.|P63092;A6NI00;P63092-3;Q5JWF2	.|GNAS2_HUMAN;.;.;GNAS1_HUMAN	H|M	198|827;813;170;184;185;169;170	.|ENSP00000360141:V827M;ENSP00000360143:V813M;ENSP00000360136:V170M;ENSP00000360126:V184M;ENSP00000346328:V185M;ENSP00000265620:V169M;ENSP00000304472:V170M	.|ENSP00000265620:V169M	R|V	+|+	2|1	0|0	0|0	GNAS|GNAS	56917631|56917631	56917631|56917631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.849000|0.849000	0.48306|0.48306	3.848000|3.848000	0.55903|0.55903	1.392000|1.392000	0.46585|0.46585	-0.150000|-0.150000	0.13652|0.13652	CGT|GTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	1		17	47	6	1		1	1	310		310	306	1	2.060000	-5.174994	1	0.170000	NM_000516			63	61		1417	1388	0		1	1	1	1	1	310	1184		1	1	1	156	43	4984	1240	63	1417
TUBB1	81027	broad.mit.edu	37	20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	107					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577																																						ENST00000217133.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(319-321)aCg>aTg		tubulin, beta 1 class VI	Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						80.0	88.0	85.0					20																	57598802		2203	4300	6503	SO:0001583	missense	81027	3	121412	36				g.chr20:57598802C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.320C>T	chr20.hg19:g.57598802C>T	ENSP00000217133:p.Thr107Met	0						p.T107M	NM_030773.3	NP_110400.1	1	2	3	1.995265	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)	4	589	+	all_lung(29;0.00711)			Missense_Mutation	SNP	ENST00000217133.1	1	1	hg19	c.320C>T	CCDS13475.1	1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529552	0.64860	.	.	ENSG00000101162	ENST00000217133	T	0.70282	-0.47	5.39	5.39	0.77823	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	107	Q9H4B7	TBB1_HUMAN	M	107	ENSP00000217133:T107M	ENSP00000217133:T107M	T	+	2	0	0	TUBB1	57032197	57032197	1.000000	0.71417	0.961000	0.40146	0.364000	0.29643	7.784000	0.85713	2.537000	0.85549	0.655000	0.94253	ACG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	1	0	0		2	2	2	0		0	0	117		117	113	1	2.060000	-4.264134	1	0.170000	NM_030773			136	134		485	478	1		1			0	0	117	0		1	0	0	0	0	0	0	136	485
TUBB1	81027	broad.mit.edu	37	20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	364					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547																																						ENST00000217133.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1090-1092)Gcc>Acc		tubulin, beta 1 class VI	Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						46.0	45.0	45.0					20																	57599572		2203	4300	6503	SO:0001583	missense	81027	0	0					g.chr20:57599572G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1090G>A	chr20.hg19:g.57599572G>A	ENSP00000217133:p.Ala364Thr	0						p.A364T	NM_030773.3	NP_110400.1	1	2	3	1.995265	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)	4	1359	+	all_lung(29;0.00711)			Missense_Mutation	SNP	ENST00000217133.1	1	1	hg19	c.1090G>A	CCDS13475.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098505	0.76870	.	.	ENSG00000101162	ENST00000217133	D	0.84800	-1.9	5.54	5.54	0.83059	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.85710	2.77	0.54753	D	0.999988	P	0.46859	0.885	P	0.48770	0.589	D	0.91859	0.5498	10	0.87932	D	0	.	18.4559	0.90720	0.0:0.0:1.0:0.0	.	364	Q9H4B7	TBB1_HUMAN	T	364	ENSP00000217133:A364T	ENSP00000217133:A364T	A	+	1	0	0	TUBB1	57032967	57032967	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.904000	0.48719	2.614000	0.88457	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_030773			55	55		197	196	1		1	0		0	0	56	0		1	4.928208e-02	0	1	0	1	0	55	197
ZNF831	128611	broad.mit.edu	37	20	57766263	57766263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	63	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					TCCCACTGTACCACACGGTGC	0.697																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				125						c.(187-189)taC>taT		zinc finger protein 831							12.0	14.0	13.0					20																	57766263		1875	4076	5951	SO:0001819	synonymous_variant	128611	0	0					g.chr20:57766263C>T	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.189C>T	chr20.hg19:g.57766263C>T		0						p.Y63Y	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		1	189	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	1	1	hg19	c.189C>T	CCDS42894.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_178457			32	32		144	141	1		1	0		0	0	27	0		1	3.521436e-02	0	0	0	2	0	32	144
ZNF831	128611	broad.mit.edu	37	20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	202							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					CAACTCCCGGCTGTCCTCAGA	0.672																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(604-606)Ctg>Atg		zinc finger protein 831							37.0	45.0	42.0					20																	57766678		2012	4169	6181	SO:0001583	missense	128611	0	0					g.chr20:57766678C>A	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.604C>A	chr20.hg19:g.57766678C>A	ENSP00000360069:p.Leu202Met	0						p.L202M	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		1	604	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	1	1	hg19	c.604C>A	CCDS42894.1	1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389185	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.06687	3.27	5.41	4.46	0.54185	5.41	4.46	0.54185	.	.	.	.	.	T	0.11537	0.0281	N	0.24115	0.695	0.25713	N	0.985465	D	0.62365	0.991	P	0.55923	0.787	T	0.13737	-1.0498	9	0.87932	D	0	-1.5935	7.5748	0.27928	0.1637:0.7519:0.0:0.0844	.	202	Q5JPB2	ZN831_HUMAN	M	202	ENSP00000360069:L202M	ENSP00000360069:L202M	L	+	1	2	2	ZNF831	57200073	57200073	0.014000	0.17966	0.631000	0.29282	0.837000	0.47467	0.966000	0.29331	1.255000	0.44051	0.561000	0.74099	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_178457			101	100		470	467	1		1	0		0	0	100	0		1	0	0	0	0	1	0	101	470
ZNF831	128611	broad.mit.edu	37	20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					TGGGCTCCCAGCGGCCAGCAC	0.677																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(874-876)Gcg>Tcg		zinc finger protein 831							44.0	50.0	48.0					20																	57766948		2001	4171	6172	SO:0001583	missense	128611	0	0					g.chr20:57766948G>T	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.874G>T	chr20.hg19:g.57766948G>T	ENSP00000360069:p.Ala292Ser	0						p.A292S	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		1	874	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	1	1	hg19	c.874G>T	CCDS42894.1	1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694301	0.00731	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	5.04	-0.658	0.11428	5.04	-0.658	0.11428	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.38672	-0.9650	9	0.08179	T	0.78	.	18.7329	0.91742	0.0:0.3924:0.6076:0.0	.	292	Q5JPB2	ZN831_HUMAN	S	292	ENSP00000360069:A292S	ENSP00000360069:A292S	A	+	1	0	0	ZNF831	57200343	57200343	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.352000	0.08237	-0.992000	0.02543	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_178457			104	103		478	469	1		1			0	0	89	0		1	0	0	0	0	0	0	104	478
ZNF831	128611	broad.mit.edu	37	20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	466							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					CGTAGGAGGGCCCCGGGCCCC	0.662																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(1396-1398)gCc>gTc		zinc finger protein 831							33.0	40.0	38.0					20																	57767471		2014	4164	6178	SO:0001583	missense	128611	0	0					g.chr20:57767471C>T	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.1397C>T	chr20.hg19:g.57767471C>T	ENSP00000360069:p.Ala466Val	0						p.A466V	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		1	1397	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	1	1	hg19	c.1397C>T	CCDS42894.1	1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660601	0.29515	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.21	4.26	0.50523	5.21	4.26	0.50523	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999999	B	0.34290	0.447	B	0.26864	0.074	T	0.39820	-0.9595	9	0.59425	D	0.04	-8.9091	12.7072	0.57067	0.0:0.9205:0.0:0.0795	.	466	Q5JPB2	ZN831_HUMAN	V	466	ENSP00000360069:A466V	ENSP00000360069:A466V	A	+	2	0	0	ZNF831	57200866	57200866	0.002000	0.14202	0.044000	0.18714	0.115000	0.19883	1.599000	0.36751	1.187000	0.43000	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.222786	1	0.170000	NM_178457			72	69		328	322	1		1	0		0	0	44	0		1	3.334444e-02	0	0	0	2	0	72	328
ZNF831	128611	broad.mit.edu	37	20	57767889	57767889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	605							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					CGGGCGGCAGGAAGTGCGGCC	0.607																																						ENST00000371030.2	1.000000	0.220000	5.100000e-01	2.900000e-01	0.380000	0.420432	0.380000	0.370000																										0				125						c.(1813-1815)agG>agA		zinc finger protein 831							42.0	49.0	47.0					20																	57767889		2063	4196	6259	SO:0001819	synonymous_variant	128611	0	0					g.chr20:57767889G>A	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.1815G>A	chr20.hg19:g.57767889G>A		0						p.R605R	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		1	1815	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	1	1	hg19	c.1815G>A	CCDS42894.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-14.064730	1	0.170000	NM_178457			15	14		461	452	0		1	0		0	0	91	0		9.998536e-01	1.183020e-03	0	0	0	2	0	15	461
ZNF831	128611	broad.mit.edu	37	20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1472							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					TGCTCAAAGGCCTTCTTCCTT	0.498																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(4414-4416)Cct>Tct		zinc finger protein 831							88.0	91.0	90.0					20																	57829178		1987	4179	6166	SO:0001583	missense	128611	0	0					g.chr20:57829178C>T	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.4414C>T	chr20.hg19:g.57829178C>T	ENSP00000360069:p.Pro1472Ser	0						p.P1472S	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		5	4414	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	1	1	hg19	c.4414C>T	CCDS42894.1	1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751699	0.15778	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.69	2.71	0.32032	5.69	2.71	0.32032	.	0.444750	0.21457	N	0.074226	T	0.10252	0.0251	M	0.61703	1.905	0.09310	N	0.999999	B	0.28605	0.217	B	0.21151	0.033	T	0.21381	-1.0247	10	0.29301	T	0.29	-0.0796	7.2263	0.26018	0.0:0.7333:0.0:0.2667	.	1472	Q5JPB2	ZN831_HUMAN	S	1472	ENSP00000360069:P1472S	ENSP00000360069:P1472S	P	+	1	0	0	ZNF831	57262573	57262573	0.000000	0.05858	0.091000	0.20842	0.040000	0.13550	0.049000	0.14099	0.754000	0.32968	0.650000	0.86243	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_178457			83	82		414	405	1		1	0		0	0	85	0		1	0	0	0	0	1	0	83	414
ZNF831	128611	broad.mit.edu	37	20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1518							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					GACCACAGCCAGACTGCAGGG	0.527																																						ENST00000371030.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				125						c.(4552-4554)cAg>cGg		zinc finger protein 831							42.0	46.0	45.0					20																	57829317		2116	4244	6360	SO:0001583	missense	128611	0	0					g.chr20:57829317A>G	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.4553A>G	chr20.hg19:g.57829317A>G	ENSP00000360069:p.Gln1518Arg	0						p.Q1518R	NM_178457.1	NP_848552.1	1	2	3	1.995265	Q5JPB2	ZN831_HUMAN		5	4553	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	1	1	hg19	c.4553A>G	CCDS42894.1	1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668825	0.03403	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.61	-3.4	0.04853	4.61	-3.4	0.04853	.	2.591440	0.01282	N	0.009769	T	0.02418	0.0074	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33497	-0.9866	10	0.05351	T	0.99	1.5943	1.4386	0.02349	0.4465:0.1546:0.258:0.1409	.	1518	Q5JPB2	ZN831_HUMAN	R	1518	ENSP00000360069:Q1518R	ENSP00000360069:Q1518R	Q	+	2	0	0	ZNF831	57262712	57262712	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.233000	0.09041	-0.261000	0.09405	-0.248000	0.11899	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_178457			36	35		179	177	1		1	0		0	0	50	0		1	7.857847e-02	0	0	0	3	0	36	179
EDN3	1908	broad.mit.edu	37	20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000337938.2	+	3	873	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000311585.7_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	163	Endothelin-like.				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)			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)					CGCTTGTGTGGGGAGATATGA	0.552																																						ENST00000337938.2	1.000000	0.230000	5.000000e-01	3.000000e-01	0.390000	0.424632	0.390000	0.370000																										0				19						c.(487-489)Ggg>Agg		endothelin 3							122.0	113.0	116.0					20																	57896193		2203	4300	6503	SO:0001583	missense	1908	0	0					g.chr20:57896193G>A	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.487G>A	chr20.hg19:g.57896193G>A	ENSP00000337128:p.Gly163Arg	0					EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000311585.7_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R	p.G163R	NM_207034.1	NP_996917.1	1	2	3	1.995265	P14138	EDN3_HUMAN		3	873	+	all_lung(29;0.0115)		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	1	1	hg19	c.487G>A	CCDS13477.1	0	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001224	0.19121	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86865	-2.05;-2.05;-2.05;-2.18;-2.18	4.75	2.71	0.32032	4.75	2.71	0.32032	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	0.869368	0.10054	N	0.721777	T	0.80412	0.4618	L	0.39898	1.24	0.09310	N	1	B;B;B;P	0.37612	0.2;0.126;0.034;0.602	B;B;B;B	0.34489	0.049;0.035;0.022;0.184	T	0.62282	-0.6887	10	0.19147	T	0.46	-11.8105	11.4336	0.50056	0.0:0.3801:0.6199:0.0	.	163;163;163;163	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	163	ENSP00000337128:G163R;ENSP00000311854:G163R;ENSP00000360067:G163R;ENSP00000360064:G163R;ENSP00000379015:G163R	ENSP00000311854:G163R	G	+	1	0	0	EDN3	57329588	57329588	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.507000	0.35758	0.488000	0.27723	0.555000	0.69702	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	0	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-2.403106	0	0.170000	NM_000114			19	19		571	558	0		1	1		0	0	119	0		9.999886e-01	5.078812e-01	0	3	0	48	0	19	571
EDN3	1908	broad.mit.edu	37	20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	237					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)			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)					TCAGGAAGGAGCCCCTTAGGA	0.557																																						ENST00000337938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(709-711)Gcc>Acc		endothelin 3							73.0	75.0	74.0					20																	57899506		2203	4300	6503	SO:0001583	missense	1908	0	0					g.chr20:57899506G>A	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.709G>A	chr20.hg19:g.57899506G>A	ENSP00000337128:p.Ala237Thr	0					EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T	p.A237T	NM_207034.1	NP_996917.1	1	2	3	1.995265	P14138	EDN3_HUMAN		5	1095	+	all_lung(29;0.0115)		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	1	1	hg19	c.709G>A	CCDS13477.1	1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724016	0.30593	.	.	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-3.93;-3.93;-3.95	1.63	0.415	0.16411	1.63	0.415	0.16411	.	18.429800	0.00357	U	0.000034	D	0.95711	0.8605	N	0.22421	0.69	0.09310	N	1	D;D	0.60575	0.988;0.98	D;P	0.67231	0.95;0.892	D	0.87404	0.2371	10	0.59425	D	0.04	.	4.6525	0.12601	0.0:0.0:0.6297:0.3703	.	223;237	P14138-2;P14138	.;EDN3_HUMAN	T	237;237;223	ENSP00000337128:A237T;ENSP00000360067:A237T;ENSP00000379015:A223T	ENSP00000337128:A237T	A	+	1	0	0	EDN3	57332901	57332901	0.000000	0.05858	0.014000	0.15608	0.333000	0.28666	-0.353000	0.07691	-0.062000	0.13088	0.655000	0.94253	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_000114			135	133		574	561	1		1	1		0	0	128	0		1	9.999108e-01	0	25	0	34	0	135	574
SYCP2	10388	broad.mit.edu	37	20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1516					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GACATCAGTTCTCTGCGTACA	0.303																																						ENST00000357552.3	1.000000	0.580000	1	8.600000e-01	0.990000	0.946989	0.990000	1.000000																										0				53						c.(4546-4548)Gaa>Aaa		synaptonemal complex protein 2							65.0	60.0	62.0					20																	58439413		2201	4291	6492	SO:0001583	missense	10388	0	0					g.chr20:58439413C>T	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.4546G>A	chr20.hg19:g.58439413C>T	ENSP00000350162:p.Glu1516Lys	0					SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K	p.E1516K			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	45	4771	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	1	1	hg19	c.4546G>A	CCDS13482.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981641	0.53827	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.31	4.37	0.52481	5.31	4.37	0.52481	.	0.095117	0.46145	D	0.000303	T	0.09335	0.0230	N	0.14661	0.345	0.23186	N	0.998152	B	0.25169	0.119	B	0.26416	0.069	T	0.24119	-1.0169	10	0.59425	D	0.04	-9.4305	11.6587	0.51334	0.0:0.9131:0.0:0.0869	.	1516	Q9BX26	SYCP2_HUMAN	K	1516;1516;202	ENSP00000360040:E1516K;ENSP00000350162:E1516K	ENSP00000350162:E1516K	E	-	1	0	0	SYCP2	57872808	57872808	1.000000	0.71417	0.983000	0.44433	0.844000	0.47949	3.194000	0.51005	1.250000	0.43966	0.305000	0.20034	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-13.800630	1	0.170000	NM_014258			8	8		71	71	0		1	0		0	0	24	0		9.906344e-01	1.355014e-02	0	0	0	2	0	8	71
C20orf196	149840	broad.mit.edu	37	20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512																																						ENST00000303142.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(613-615)Ctg>Atg		chromosome 20 open reading frame 196							71.0	70.0	70.0					20																	5844104		2201	4298	6499	SO:0001583	missense	149840	0	0					g.chr20:5844104C>A	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.613C>A	chr20.hg19:g.5844104C>A	ENSP00000305875:p.Leu205Met	0						p.L205M	NM_152504.2	NP_689717.2	1	2	3	1.995265	Q8IYI0	CT196_HUMAN		3	700	+			A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	1	1	hg19	c.613C>A	CCDS13091.1	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606421	0.28623	.	.	ENSG00000171984	ENST00000303142;ENST00000378971	T	0.51325	0.71	5.54	1.21	0.21127	5.54	1.21	0.21127	.	1.162880	0.06175	N	0.678450	T	0.29190	0.0726	N	0.19112	0.55	0.09310	N	1	P	0.38711	0.643	B	0.34301	0.179	T	0.31447	-0.9943	10	0.87932	D	0	-11.1558	3.344	0.07128	0.1662:0.4178:0.3232:0.0928	.	205	Q8IYI0	CT196_HUMAN	M	205;151	ENSP00000305875:L205M	ENSP00000305875:L205M	L	+	1	2	2	C20orf196	5792104	5792104	0.000000	0.05858	0.447000	0.26932	0.171000	0.22731	-0.269000	0.08596	0.828000	0.34709	0.655000	0.94253	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.042543	1	0.170000	NM_152504			77	75		338	329	1		1	1		0	0	94	0		1	7.956338e-01	0	2	0	13	0	77	338
SYCP2	10388	broad.mit.edu	37	20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1510					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAAGAAGCTCCTCTTCT	0.303																																						ENST00000357552.3	1.000000	0.670000	1	9.600000e-01	0.990000	0.969608	0.990000	1.000000																										0				53						c.(4528-4530)Ctt>Ttt		synaptonemal complex protein 2							59.0	55.0	56.0					20																	58439431		2201	4291	6492	SO:0001583	missense	10388	0	0					g.chr20:58439431G>A	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.4528C>T	chr20.hg19:g.58439431G>A	ENSP00000350162:p.Leu1510Phe	0					SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F	p.L1510F			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	45	4753	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	0	1	hg19	c.4528C>T	CCDS13482.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258119	0.59321	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.27104	1.69;1.69	5.31	2.07	0.26955	5.31	2.07	0.26955	.	0.237603	0.29767	N	0.011253	T	0.40546	0.1121	L	0.59436	1.845	0.33681	D	0.612099	D	0.67145	0.996	D	0.67725	0.953	T	0.53760	-0.8393	10	0.72032	D	0.01	-6.6746	8.6258	0.33888	0.0826:0.2875:0.6299:0.0	.	1510	Q9BX26	SYCP2_HUMAN	F	1510;1510;196	ENSP00000360040:L1510F;ENSP00000350162:L1510F	ENSP00000350162:L1510F	L	-	1	0	0	SYCP2	57872826	57872826	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	2.477000	0.45180	0.611000	0.30052	0.305000	0.20034	CTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-15.681170	1	0.170000	NM_014258			9	9		71	71	1		1	0		0	0	21	0		9.951091e-01	0	0	0	0	1	0	9	71
SYCP2	10388	broad.mit.edu	37	20	58441414	58441414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1418					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCCTCTATGATAATGAATT	0.244																																						ENST00000357552.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				53						c.(4252-4254)atC>atT		synaptonemal complex protein 2							31.0	36.0	34.0					20																	58441414		2126	4234	6360	SO:0001819	synonymous_variant	10388	0	0					g.chr20:58441414G>A	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.4254C>T	chr20.hg19:g.58441414G>A		0					SYCP2_ENST00000371001.2_Silent_p.I1418I	p.I1418I			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	41	4479	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	1	1	hg19	c.4254C>T	CCDS13482.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.244	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-17.674390	1	0.170000	NM_014258			31	31		155	153	1		1	0		0	0	52	0		1	2.971969e-02	0	0	0	2	0	31	155
SYCP2	10388	broad.mit.edu	37	20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1397					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTCATTGTTCTCAGATGTTG	0.308																																						ENST00000357552.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				53						c.(4189-4191)aGa>aAa		synaptonemal complex protein 2							87.0	90.0	89.0					20																	58441580		2203	4298	6501	SO:0001583	missense	10388	0	0					g.chr20:58441580C>T	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.4190G>A	chr20.hg19:g.58441580C>T	ENSP00000350162:p.Arg1397Lys	0					SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K	p.R1397K			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	40	4415	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	1	1	hg19	c.4190G>A	CCDS13482.1	1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901495	0.02453	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.12255	2.7;2.7	5.3	-2.8	0.05823	5.3	-2.8	0.05823	.	1.000790	0.08062	N	0.998326	T	0.03434	0.0099	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.05721	T	0.95	-0.5713	5.3347	0.15951	0.1098:0.0882:0.5781:0.2239	.	1397	Q9BX26	SYCP2_HUMAN	K	1397;1397;83	ENSP00000360040:R1397K;ENSP00000350162:R1397K	ENSP00000350162:R1397K	R	-	2	0	0	SYCP2	57874975	57874975	0.528000	0.26314	0.005000	0.12908	0.516000	0.34256	0.736000	0.26130	-0.201000	0.10284	-0.484000	0.04775	AGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.035024	1	0.170000	NM_014258			40	40		217	210	1		1	0		0	0	46	0		1	0	0	0	0	1	0	40	217
SYCP2	10388	broad.mit.edu	37	20	58457164	58457164	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	862					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTCAGAAGTAACATTAA	0.289																																						ENST00000357552.3	1.000000	0.350000	9.600000e-01	5.000000e-01	0.700000	0.714029	0.700000	1.000000																										0				53						c.(2584-2586)acT>acG		synaptonemal complex protein 2							74.0	74.0	74.0					20																	58457164		2198	4296	6494	SO:0001819	synonymous_variant	10388	0	0					g.chr20:58457164A>C	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.2586T>G	chr20.hg19:g.58457164A>C		0					SYCP2_ENST00000371001.2_Silent_p.T862T	p.T862T			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	27	2811	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	1	1	hg19	c.2586T>G	CCDS13482.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-4.874542	1	0.170000	NM_014258			10	10		166	164	0		1			0	0	49	0		9.969672e-01	0	0	0	0	0	0	10	166
SYCP2	10388	broad.mit.edu	37	20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G	rs199782376		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTTCACTTTTCCTGTTCCT	0.279													T|||	1	0.000199681	0.0	0.0	5008	,	,		15775	0.001		0.0	False		,,,				2504	0.0					ENST00000357552.3	1.000000	0.230000	5.600000e-01	3.100000e-01	0.420000	0.454837	0.420000	0.400000																										0				53						c.(2005-2007)Aaa>Caa		synaptonemal complex protein 2							83.0	84.0	84.0					20																	58467404		2201	4298	6499	SO:0001583	missense	10388	0	0					g.chr20:58467404T>G	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.2005A>C	chr20.hg19:g.58467404T>G	ENSP00000350162:p.Lys669Gln	0					SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q	p.K669Q			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	24	2230	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	1	1	hg19	c.2005A>C	CCDS13482.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.940	-0.014318	0.07681	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18960	2.44;2.44;2.18	5.23	2.8	0.32819	5.23	2.8	0.32819	.	0.728814	0.13007	N	0.421209	T	0.20901	0.0503	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.13764	-1.0497	10	0.66056	D	0.02	-5.6591	4.878	0.13665	0.1643:0.0938:0.0:0.7419	.	669	Q9BX26	SYCP2_HUMAN	Q	669	ENSP00000360040:K669Q;ENSP00000350162:K669Q;ENSP00000402456:K669Q	ENSP00000350162:K669Q	K	-	1	0	0	SYCP2	57900799	57900799	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.617000	0.24359	0.930000	0.37217	0.482000	0.46254	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-13.485490	1	0.170000	NM_014258			13	12		367	361	0		1	0		0	0	74	0		9.994946e-01	0	0	0	0	1	0	13	367
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274																																						ENST00000357552.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				53						c.(1126-1128)Gca>Aca		synaptonemal complex protein 2							72.0	70.0	71.0					20																	58476773		2199	4288	6487	SO:0001583	missense	10388	1	121346	27				g.chr20:58476773C>T	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.1126G>A	chr20.hg19:g.58476773C>T	ENSP00000350162:p.Ala376Thr	0					SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T	p.A376T			1	2	3	1.995265	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)	16	1351	-	all_lung(29;0.00344)		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	1	1	hg19	c.1126G>A	CCDS13482.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	0	SYCP2	57910168	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-15.156930	1	0.170000	NM_014258			26	24		134	130	1		1	0		0	0	54	0		9.999999e-01	0	0	0	0	1	0	26	134
PPP1R3D	5509	broad.mit.edu	37	20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	159					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGCGGCGGGAAATCGGGCACC	0.672																																						ENST00000370996.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(475-477)Ttc>Gtc		protein phosphatase 1, regulatory subunit 3D							17.0	20.0	19.0					20																	58514512		2173	4247	6420	SO:0001583	missense	5509	0	0					g.chr20:58514512A>C	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.475T>G	chr20.hg19:g.58514512A>C	ENSP00000360035:p.Phe159Val	0					FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	p.F159V	NM_006242.3	NP_006233.1	1	2	3	1.995265	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)	1	840	-	all_lung(29;0.00391)		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	1	1	hg19	c.475T>G	CCDS13483.1	1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951431	0.92660	.	.	ENSG00000132825	ENST00000370996	T	0.65916	-0.18	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.78610	0.4310	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81342	-0.0976	10	0.66056	D	0.02	-19.8349	14.9744	0.71261	1.0:0.0:0.0:0.0	.	159	O95685	PPR3D_HUMAN	V	159	ENSP00000360035:F159V	ENSP00000360035:F159V	F	-	1	0	0	PPP1R3D	57947907	57947907	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.064000	0.93933	1.941000	0.56285	0.379000	0.24179	TTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_006242			46	46		163	160	1		1	1		0	0	26	0		1	8.441276e-01	0	4	0	10	0	46	163
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000244047.5	+	8	1292	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000348616.4_Silent_p.S327S			Q8IXH8	CAD26_HUMAN	cadherin 26	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGACATTTCGACTGACCCTG	0.453																																						ENST00000244047.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(979-981)tcG>tcA		cadherin 26							126.0	102.0	110.0					20																	58562651		2203	4300	6503	SO:0001819	synonymous_variant	60437	4	121412	34				g.chr20:58562651G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.981G>A	chr20.hg19:g.58562651G>A		0					CDH26_ENST00000348616.4_Silent_p.S327S	p.S327S			1	2	3	1.995265	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)	8	1292	+	all_lung(29;0.00963)		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	1	1	hg19	c.981G>A		1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-3.375833	1	0.170000	NM_177980			68	66		319	309	1		1			0	0	96	0		1	0	0	0	0	0	0	68	319
CDH26	60437	broad.mit.edu	37	20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000244047.5	+	11	1849	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.A513V|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	513					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTGAGTCTGCTGTGCATGAG	0.552																																						ENST00000244047.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1537-1539)gCt>gTt		cadherin 26							86.0	76.0	79.0					20																	58569416		2203	4300	6503	SO:0001583	missense	60437	0	0					g.chr20:58569416C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1538C>T	chr20.hg19:g.58569416C>T	ENSP00000244047:p.Ala513Val	0					CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.A513V|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR	p.A513V			1	2	3	1.995265	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)	11	1849	+	all_lung(29;0.00963)		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	1	1	hg19	c.1538C>T		1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429050	0.43122	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.58	1.06	0.20224	4.58	1.06	0.20224	Cadherin-like (2);	0.881551	0.09841	N	0.748865	T	0.50086	0.1595	M	0.66939	2.045	0.09310	N	1	B;B	0.29612	0.251;0.22	B;B	0.29524	0.07;0.103	T	0.44787	-0.9305	10	0.40728	T	0.16	.	3.5879	0.07978	0.2297:0.5454:0.1225:0.1023	.	513;513	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	513	ENSP00000244047:A513V;ENSP00000339390:A513V	ENSP00000244047:A513V	A	+	2	0	0	CDH26	58002811	58002811	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.409000	0.21082	0.341000	0.23771	0.655000	0.94253	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_177980			51	50		246	245	1		1	0		0	0	63	0		1	3.072464e-02	0	0	0	2	0	51	246
TRMT6	51605	broad.mit.edu	37	20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	59					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.G59V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408																																						ENST00000203001.2	1.000000	0.580000	1	7.100000e-01	0.850000	0.852199	0.850000	1.000000																										1	Substitution - Missense(1)	p.G59V(1)	endometrium(1)	15						c.(175-177)gGc>gAc		tRNA methyltransferase 6 homolog (S. cerevisiae)							197.0	159.0	172.0					20																	5927132		2203	4300	6503	SO:0001583	missense	51605	0	0					g.chr20:5927132C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.176G>A	chr20.hg19:g.5927132C>T	ENSP00000203001:p.Gly59Asp	0					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.G59D	NM_015939.3	NP_057023.2	1	2	3	1.995265	Q9UJA5	TRM6_HUMAN		2	306	-			B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	1	1	hg19	c.176G>A	CCDS13093.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742387	0.89573	.	.	ENSG00000089195	ENST00000203001	T	0.48201	0.82	5.68	4.72	0.59763	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.59425	D	0.04	-8.7611	16.4517	0.83993	0.0:0.8686:0.1314:0.0	.	59	Q9UJA5	TRM6_HUMAN	D	59	ENSP00000203001:G59D	ENSP00000203001:G59D	G	-	2	0	0	TRMT6	5875132	5875132	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.357000	0.45904	0.655000	0.94253	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-8.123458	1	0.170000				29	26		376	371	1		1	1		0	0	63	0		1	9.516715e-01	0	7	0	60	0	29	376
MCM8	84515	broad.mit.edu	37	20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	TRMT6_ENST00000203001.2_5'Flank|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N	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	76					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TACCATATAAAGGCTGGAAGC	0.338																																						ENST00000378896.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(226-228)aaA>aaC		minichromosome maintenance complex component 8							93.0	105.0	101.0					20																	5933149		2203	4299	6502	SO:0001583	missense	84515	0	0					g.chr20:5933149A>C	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.228A>C	chr20.hg19:g.5933149A>C	ENSP00000368174:p.Lys76Asn	0					MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|TRMT6_ENST00000203001.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|TRMT6_ENST00000453074.2_5'Flank	p.K76N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	1	2	3	1.995265	Q9UJA3	MCM8_HUMAN		3	605	+			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	1	1	hg19	c.228A>C	CCDS13094.1	1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914769	0.72983	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.07	2.69	0.31865	6.07	2.69	0.31865	.	0.098121	0.64402	D	0.000002	T	0.35653	0.0939	M	0.75447	2.3	0.58432	D	0.999995	P;P;B;B	0.41597	0.677;0.756;0.338;0.251	B;B;B;B	0.38106	0.265;0.209;0.224;0.136	T	0.17930	-1.0353	10	0.52906	T	0.07	-16.8494	8.8479	0.35181	0.7028:0.0:0.2972:0.0	.	76;76;76;76	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	76	ENSP00000368174:K76N;ENSP00000368161:K76N;ENSP00000368164:K76N;ENSP00000265187:K76N	ENSP00000265187:K76N	K	+	3	2	2	MCM8	5881149	5881149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.842000	0.48230	0.554000	0.29061	-0.250000	0.11733	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000	NM_032485			150	148		653	648	1		1	1		0	0	155	0		1	7.994743e-01	0	6	0	9	0	150	653
MCM8	84515	broad.mit.edu	37	20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q	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	687					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAAGCTGCTCGAGTTCTTCAA	0.468																																						ENST00000378896.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2059-2061)cGa>cAa		minichromosome maintenance complex component 8		A	GLN/ARG,GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	115.0	107.0	110.0		2060,2012	5.7	1.0	20	dbSNP_134	110	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	687/841,671/825	5966674	3,13003	2203	4300	6503	SO:0001583	missense	84515	56	121412	51				g.chr20:5966674G>A	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.2060G>A	chr20.hg19:g.5966674G>A	ENSP00000368174:p.Arg687Gln	0					MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	p.R687Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	1	2	3	1.995265	Q9UJA3	MCM8_HUMAN		16	2437	+			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	1	0	hg19	c.2060G>A	CCDS13094.1	1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079986	0.20309	2.27E-4	2.33E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.054667	0.64402	N	0.000001	T	0.01835	0.0058	N	0.00566	-1.37	0.22401	N	0.999133	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;0.0	T	0.43228	-0.9404	10	0.06625	T	0.88	-7.1168	11.9878	0.53157	0.9323:0.0:0.0677:0.0	.	640;727;671;687	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	687;640;727;671	ENSP00000368174:R687Q;ENSP00000368161:R640Q;ENSP00000368164:R727Q;ENSP00000265187:R671Q	ENSP00000265187:R671Q	R	+	2	0	0	MCM8	5914674	5914674	1.000000	0.71417	0.975000	0.42487	0.687000	0.40016	6.140000	0.71738	1.081000	0.41110	-0.254000	0.11334	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.739832	1	0.170000	NM_032485			80	78		378	372	1		1	1		0	0	82	0		1	8.227499e-01	0	5	0	12	0	80	378
MCM8	84515	broad.mit.edu	37	20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	rs147649536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5974312C>T	ENST00000378896.3	+	18	2778	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W	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	801					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCATCAACTTCGGCAGATTGC	0.318																																						ENST00000378896.3	1.000000	0.120000	4.400000e-01	1.900000e-01	0.290000	0.338888	0.290000	0.270000																										0				23						c.(2401-2403)Cgg>Tgg		minichromosome maintenance complex component 8		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	42.0	49.0	47.0		2401,2353	4.7	1.0	20	dbSNP_134	47	0,8598		0,0,4299	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	801/841,785/825	5974312	1,13003	2203	4299	6502	SO:0001583	missense	84515	3	121406	32				g.chr20:5974312C>T	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.2401C>T	chr20.hg19:g.5974312C>T	ENSP00000368174:p.Arg801Trp	0					MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W	p.R801W	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	1	2	3	1.995265	Q9UJA3	MCM8_HUMAN		18	2778	+			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	0	1	hg19	c.2401C>T	CCDS13094.1	0	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513050	0.64522	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03181	4.08;4.02;4.09;4.08	5.69	4.72	0.59763	5.69	4.72	0.59763	.	0.060767	0.64402	D	0.000002	T	0.10981	0.0268	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.987;0.986	P;P;P;P	0.51229	0.663;0.582;0.54;0.453	T	0.05550	-1.0878	10	0.39692	T	0.17	-7.6747	15.8853	0.79244	0.1364:0.8636:0.0:0.0	.	754;841;785;801	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	W	801;754;841;785	ENSP00000368174:R801W;ENSP00000368161:R754W;ENSP00000368164:R841W;ENSP00000265187:R785W	ENSP00000265187:R785W	R	+	1	2	2	MCM8	5922312	5922312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.514000	0.60482	1.349000	0.45751	0.561000	0.74099	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.974815	1	0.170000	NM_032485			7	7		295	289	0		1	0		0	0	56	0		9.795072e-01	7.679598e-02	0	1	0	16	0	7	295
LRRN4	164312	broad.mit.edu	37	20	6022053	6022053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022053C>T	ENST00000378858.4	-	5	2062	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	613	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGCAGAGTAGCGGATCTGGTA	0.701																																						ENST00000378858.4	1.000000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.277055	0.230000	0.210000																										0				27						c.(1837-1839)cGc>cAc		leucine rich repeat neuronal 4							52.0	49.0	50.0					20																	6022053		2201	4297	6498	SO:0001583	missense	164312	0	0					g.chr20:6022053C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1838G>A	chr20.hg19:g.6022053C>T	ENSP00000368135:p.Arg613His	0						p.R613H	NM_152611.4	NP_689824.2	1	2	3	1.995265	Q8WUT4	LRRN4_HUMAN		5	2062	-			A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	0	1	hg19	c.1838G>A	CCDS13097.1	0	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270375	0.10349	.	.	ENSG00000125872	ENST00000378858	T	0.58210	0.35	5.13	-4.69	0.03299	5.13	-4.69	0.03299	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.366150	0.04518	N	0.384017	T	0.27697	0.0681	N	0.16368	0.405	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.09930	-1.0652	10	0.14252	T	0.57	-11.1259	2.1932	0.03905	0.1663:0.2844:0.095:0.4544	.	613	Q8WUT4	LRRN4_HUMAN	H	613	ENSP00000368135:R613H	ENSP00000368135:R613H	R	-	2	0	0	LRRN4	5970053	5970053	0.000000	0.05858	0.465000	0.27155	0.520000	0.34377	-1.726000	0.01861	-0.429000	0.07329	-0.258000	0.10820	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	1		2	2	2	0		0	0	79		79	76	1	2.060000	-7.180867	1	0.170000	NM_152611			8	8		426	422	0		1			0	0	79	0		9.891048e-01	0	0	0	0	0	0	8	426
LRRN4	164312	broad.mit.edu	37	20	6022592	6022592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	433					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647																																						ENST00000378858.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1297-1299)acG>acA		leucine rich repeat neuronal 4							87.0	82.0	84.0					20																	6022592		2203	4300	6503	SO:0001819	synonymous_variant	164312	0	0					g.chr20:6022592C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1299G>A	chr20.hg19:g.6022592C>T		0						p.T433T	NM_152611.4	NP_689824.2	1	2	3	1.995265	Q8WUT4	LRRN4_HUMAN		5	1523	-			A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	1	1	hg19	c.1299G>A	CCDS13097.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_152611			84	82		332	326	1		1	0		0	0	73	0		1	1.079214e-01	0	0	0	3	0	84	332
LRRN4	164312	broad.mit.edu	37	20	6031566	6031566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6031566C>T	ENST00000378858.4	-	3	943	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	240					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGTCGTCAGCCGAGGCATCTT	0.557																																						ENST00000378858.4	1.000000	0.150000	4.800000e-01	2.300000e-01	0.330000	0.375377	0.330000	0.310000																										0				27						c.(718-720)cGg>cAg		leucine rich repeat neuronal 4							90.0	82.0	85.0					20																	6031566		2203	4300	6503	SO:0001583	missense	164312	0	0					g.chr20:6031566C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.719G>A	chr20.hg19:g.6031566C>T	ENSP00000368135:p.Arg240Gln	0						p.R240Q	NM_152611.4	NP_689824.2	1	2	3	1.995265	Q8WUT4	LRRN4_HUMAN		3	943	-			A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	0	1	hg19	c.719G>A	CCDS13097.1	0	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253455	0.39797	.	.	ENSG00000125872	ENST00000378858	T	0.57907	0.37	5.68	2.71	0.32032	5.68	2.71	0.32032	.	0.462660	0.21634	N	0.071421	T	0.29945	0.0749	N	0.21097	0.63	0.27634	N	0.947921	B;B	0.33000	0.393;0.185	B;B	0.22601	0.04;0.012	T	0.11179	-1.0598	10	0.33940	T	0.23	-10.6573	5.7998	0.18408	0.1248:0.6111:0.0:0.264	.	240;240	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Q	240	ENSP00000368135:R240Q	ENSP00000368135:R240Q	R	-	2	0	0	LRRN4	5979566	5979566	0.059000	0.20769	0.998000	0.56505	0.678000	0.39670	0.198000	0.17217	0.347000	0.23924	-0.320000	0.08662	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.576764	1	0.170000	NM_152611			8	8		294	282	0		1	0		0	0	50	0		9.877590e-01	9.706644e-04	0	0	0	2	0	8	294
CDH26	60437	broad.mit.edu	37	20	58569448	58569449	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448_58569449GA>AC	ENST00000244047.5	+	11	1881_1882	c.1570_1571GA>AC	c.(1570-1572)GAt>ACt	p.D524T	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.D524T|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CGAGGCAGAGGATCCGGACCTG	0.55																																						ENST00000244047.5	1.000000	0.420000|0.990000	9.300000e-01|1	5.500000e-01|9.900000e-01	0.720000|0.990000	0.735555|0.999655	0.720000|0.990000	1.000000																										0				44						c.(1570-1572)Gat>Aat|c.(1570-1572)gAt>gCt		cadherin 26																																				SO:0001583	missense	60437	0	0					g.chr20:58569448G>A|g.chr20:58569449A>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	Exception_encountered	chr20.hg19:g.58569448_58569449delinsAC	ENSP00000244047:p.Asp524Thr	0					CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.D524N|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.D524A|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR	p.D524N|p.D524A			1	2	3	1.995265	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)	11	1881|1882	+	all_lung(29;0.00963)		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	1	1	hg19	c.1570G>A|c.1571A>C		0|1																									4.35|4.35|4.35	3.4|2.08|2.08	0.38934|0.27032|0.27032																																												0|0|0			58002843|58002844|58002844														1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.550	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	57		57	56	1	2.060000	-19.090390|-20.000000	1	0.170000	NM_177980			16|35	16|35		253|235	252|234	0|1		1			0	0	57	0		9.999389e-01|1	0	0	0	0	0	0	16	235
CDH4	1002	broad.mit.edu	37	20	60448855	60448855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60448855C>T	ENST00000360469.5	+	7	1037	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2. {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)			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)			GGTGCGGTACCGGATCGTGAC	0.612																																						ENST00000360469.5	1.000000	0.110000	3.200000e-01	1.600000e-01	0.230000	0.273567	0.230000	0.220000																										0				74						c.(949-951)Cgg>Tgg		cadherin 4, type 1, R-cadherin (retinal)							165.0	129.0	141.0					20																	60448855		2203	4300	6503	SO:0001583	missense	1002	0	0					g.chr20:60448855C>T	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.949C>T	chr20.hg19:g.60448855C>T	ENSP00000353656:p.Arg317Trp	0					CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	p.R317W	NM_001794.3	NP_001785.2	1	2	3	1.995265	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)	7	1037	+			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	0	1	hg19	c.949C>T	CCDS13488.1	0	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093340	0.56075	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.59	4.92	2.9	0.33743	4.92	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.055234	0.85682	D	0.000000	T	0.71779	0.3380	M	0.80183	2.485	0.50171	D	0.999858	D	0.89917	1.0	D	0.76575	0.988	T	0.73379	-0.4001	9	.	.	.	.	14.1152	0.65149	0.2429:0.7571:0.0:0.0	.	317	P55283	CADH4_HUMAN	W	317;225;243	ENSP00000353656:R317W;ENSP00000443301:R243W	.	R	+	1	2	2	CDH4	59882250	59882250	1.000000	0.71417	0.947000	0.38551	0.585000	0.36419	1.340000	0.33896	0.435000	0.26365	0.585000	0.79938	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-2.903243	1	0.170000	NM_001794			11	11		579	566	0		1	0		0	0	88	0		9.981379e-01	0	0	0	0	1	0	11	579
CDH4	1002	broad.mit.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CCCCGGCACCGTGCTGACCAC	0.632																																						ENST00000360469.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(1573-1575)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							63.0	54.0	57.0					20																	60498707		2203	4300	6503	SO:0001583	missense	1002	0	0					g.chr20:60498707G>A	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.1573G>A	chr20.hg19:g.60498707G>A	ENSP00000353656:p.Val525Met	0					CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	p.V525M	NM_001794.3	NP_001785.2	1	2	3	1.995265	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)	10	1661	+			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	1	1	hg19	c.1573G>A	CCDS13488.1	1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	0	CDH4	59932102	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_001794			50	50		150	150	1		1	0		0	0	48	0		1	0	0	0	0	1	0	50	150
CDH4	1002	broad.mit.edu	37	20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	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)			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)			TACCTGGAGGCCGGGATGTAT	0.542																																						ENST00000360469.5	1.000000	0.510000	9.400000e-01	6.300000e-01	0.760000	0.776964	0.760000	1.000000																										0				74						c.(2047-2049)gCc>gTc		cadherin 4, type 1, R-cadherin (retinal)							139.0	104.0	116.0					20																	60504709		2203	4300	6503	SO:0001583	missense	1002	0	0					g.chr20:60504709C>T	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.2048C>T	chr20.hg19:g.60504709C>T	ENSP00000353656:p.Ala683Val	0					CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	p.A683V	NM_001794.3	NP_001785.2	1	2	3	1.995265	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)	13	2136	+			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	1	1	hg19	c.2048C>T	CCDS13488.1	0	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511956	0.27036	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60299	0.2;0.2	4.14	4.14	0.48551	4.14	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.060746	0.64402	D	0.000004	T	0.42810	0.1219	L	0.45051	1.395	0.41343	D	0.987315	P	0.38582	0.638	B	0.28385	0.089	T	0.42050	-0.9474	9	.	.	.	.	11.6549	0.51313	0.1776:0.8224:0.0:0.0	.	683	P55283	CADH4_HUMAN	V	683;591;609	ENSP00000353656:A683V;ENSP00000443301:A609V	.	A	+	2	0	0	CDH4	59938104	59938104	0.197000	0.23362	0.863000	0.33907	0.943000	0.58893	2.334000	0.43920	1.855000	0.53841	0.561000	0.74099	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-7.037497	1	0.170000	NM_001794			27	27		396	392	0		1	0		0	0	90	0		1	0	0	0	0	1	0	27	396
TAF4	6874	broad.mit.edu	37	20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	911					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTACAAGATTCTGTAGCCTTT	0.408																																						ENST00000252996.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2731-2733)caG>caT		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							133.0	125.0	128.0					20																	60575234		2203	4300	6503	SO:0001583	missense	6874	0	0					g.chr20:60575234C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2733G>T	chr20.hg19:g.60575234C>A	ENSP00000252996:p.Gln911His	0						p.Q911H	NM_003185.3	NP_003176.2	1	2	3	1.995265	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)	11	2732	-	Breast(26;1e-08)		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	1	1	hg19	c.2733G>T	CCDS33500.1	1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220788	0.58560	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.77;1.77	4.7	1.66	0.24008	4.7	1.66	0.24008	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.070768	0.64402	D	0.000019	T	0.32704	0.0838	L	0.38531	1.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.08046	-1.0741	10	0.72032	D	0.01	-11.4158	5.8129	0.18475	0.0:0.508:0.0:0.492	.	911	O00268	TAF4_HUMAN	H	911;775	ENSP00000252996:Q911H;ENSP00000399091:Q775H	ENSP00000252996:Q911H	Q	-	3	2	2	TAF4	60008629	60008629	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	0.964000	0.29306	0.969000	0.38237	-0.258000	0.10820	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_003185			63	63		334	332	1		1	1		0	0	71	0		1	9.882821e-01	0	11	0	28	0	63	334
TAF4	6874	broad.mit.edu	37	20	60581569	60581569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	740					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCCATACCAGCGGTGTGGGTT	0.657																																						ENST00000252996.4	1.000000	0.640000	1	9.200000e-01	0.990000	0.962280	0.990000	1.000000																										0				37						c.(2218-2220)ccG>ccA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							16.0	15.0	15.0					20																	60581569		2168	4249	6417	SO:0001819	synonymous_variant	6874	0	0					g.chr20:60581569C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2220G>A	chr20.hg19:g.60581569C>T		0						p.P740P	NM_003185.3	NP_003176.2	1	2	3	1.995265	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)	7	2219	-	Breast(26;1e-08)		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	0	1	hg19	c.2220G>A	CCDS33500.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-15.441990	1	0.170000	NM_003185			9	9		75	75	1		1	1		0	0	19	0		9.950648e-01	5.755423e-01	0	3	0	14	0	9	75
FERMT1	55612	broad.mit.edu	37	20	6077578	6077578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000478194.1_5'Flank|FERMT1_ENST00000536936.1_Silent_p.L97L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	354	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423																																						ENST00000217289.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1060-1062)Cta>Tta		fermitin family member 1							142.0	158.0	153.0					20																	6077578		2203	4300	6503	SO:0001819	synonymous_variant	55612	0	0					g.chr20:6077578G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1060C>T	chr20.hg19:g.6077578G>A		0					FERMT1_ENST00000536936.1_Silent_p.L97L|FERMT1_ENST00000478194.1_5'Flank	p.L354L	NM_017671.4	NP_060141.3	1	2	3	1.995265	Q9BQL6	FERM1_HUMAN		8	1848	-			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	1	1	hg19	c.1060C>T	CCDS13098.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	1	0	1		2	2	2	0		0	0	206		206	203	1	2.060000	-2.820120	1	0.170000	NM_017671			214	214		880	863	0		1	1		0	0	206	0		1	1	0	92	0	32	0	214	880
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	558					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622																																						ENST00000252996.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				37						c.(1672-1674)acG>acA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							82.0	71.0	75.0					20																	60585189		2203	4300	6503	SO:0001819	synonymous_variant	6874	7	121412	40				g.chr20:60585189C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1674G>A	chr20.hg19:g.60585189C>T		0					TAF4_ENST00000609045.1_5'UTR	p.T558T	NM_003185.3	NP_003176.2	1	2	3	1.995265	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)	4	1673	-	Breast(26;1e-08)		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	1	1	hg19	c.1674G>A	CCDS33500.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_003185			52	52		335	324	1		1	1		0	0	83	0		1	8.495809e-01	0	7	0	17	0	52	335
OSBPL2	9885	broad.mit.edu	37	20	60861650	60861650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000358053.2_Silent_p.S324S|OSBPL2_ENST00000439951.2_Silent_p.S244S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	336					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			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)			ATGAAGACTCCGGGAAGGCTG	0.627																																						ENST00000313733.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1006-1008)tcC>tcT		oxysterol binding protein-like 2							100.0	97.0	98.0					20																	60861650		2203	4300	6503	SO:0001819	synonymous_variant	9885	3	121412	39				g.chr20:60861650C>T	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.1008C>T	chr20.hg19:g.60861650C>T		0					OSBPL2_ENST00000358053.2_Silent_p.S324S|OSBPL2_ENST00000439951.2_Silent_p.S244S	p.S336S	NM_144498.1	NP_653081.1	1	2	3	1.995265	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)	11	1210	+	Breast(26;7.76e-09)		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	1	1	hg19	c.1008C>T	CCDS13495.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	1	0	1		2	2	2	0		0	0	119		119	117	1	2.060000	-2.794839	1	0.170000	NM_014835			182	174		770	747	1		1	1		0	0	119	0		1	1	0	72	0	153	0	182	770
OSBPL2	9885	broad.mit.edu	37	20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	387					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			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)			GTGAGCCTCAACGAGCTGGAG	0.582																																						ENST00000313733.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.993294	0.990000	1.000000																										0				17						c.(1159-1161)aAc>aGc		oxysterol binding protein-like 2							87.0	66.0	73.0					20																	60864297		2203	4300	6503	SO:0001583	missense	9885	0	0					g.chr20:60864297A>G	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.1160A>G	chr20.hg19:g.60864297A>G	ENSP00000316649:p.Asn387Ser	0					OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S|OSBPL2_ENST00000439951.2_Intron	p.N387S	NM_144498.1	NP_653081.1	1	2	3	1.995265	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)	12	1362	+	Breast(26;7.76e-09)		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	1	1	hg19	c.1160A>G	CCDS13495.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444091	0.83993	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.52983	0.64;0.64	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84747	0.0754	10	0.87932	D	0	-8.5733	13.2847	0.60237	1.0:0.0:0.0:0.0	.	375;387	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	S	375;387	ENSP00000350755:N375S;ENSP00000316649:N387S	ENSP00000316649:N387S	N	+	2	0	0	OSBPL2	60297692	60297692	1.000000	0.71417	0.612000	0.29024	0.971000	0.66376	9.136000	0.94489	1.686000	0.51046	0.459000	0.35465	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.999920	1	0.170000	NM_014835			15	15		104	102	1		1	1		0	0	28	0		9.998958e-01	9.999988e-01	0	57	0	138	0	15	104
LAMA5	3911	broad.mit.edu	37	20	60893902	60893902	+	Silent	SNP	T	T	G	rs111438443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60893902T>G	ENST00000252999.3	-	52	7105	c.7039A>C	c.(7039-7041)Aga>Cga	p.R2347R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2347	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACTCACATCTCTGTGCTGCA	0.687																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999387	0.990000	1.000000																										0				81						c.(7039-7041)Aga>Cga		laminin, alpha 5							20.0	19.0	19.0					20																	60893902		2165	4270	6435	SO:0001819	synonymous_variant	3911	0	0					g.chr20:60893902T>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7039A>C	chr20.hg19:g.60893902T>G		0						p.R2347R	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	52	7105	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	0	0	hg19	c.7039A>C	CCDS33502.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_005560			18	18		97	93	1		1	1		0	0	16	0		9.999853e-01	9.982729e-01	0	25	0	35	0	18	97
LAMA5	3911	broad.mit.edu	37	20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2201	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACGGGCCCAGGCCATGGAGCT	0.667																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(6601-6603)gCc>gAc		laminin, alpha 5							48.0	42.0	44.0					20																	60895841		2181	4279	6460	SO:0001583	missense	3911	0	0					g.chr20:60895841G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6602C>A	chr20.hg19:g.60895841G>T	ENSP00000252999:p.Ala2201Asp	0						p.A2201D	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	49	6668	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	1	1	hg19	c.6602C>A	CCDS33502.1	1	.	.	.	.	.	.	.	.	.	.	-	20.4	3.990041	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.12255	2.7	4.53	3.57	0.40892	4.53	3.57	0.40892	Laminin I (1);	0.109081	0.64402	D	0.000008	T	0.30603	0.0770	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.03175	-1.1064	10	0.72032	D	0.01	.	13.0309	0.58840	0.0797:0.0:0.9203:0.0	.	2201	O15230	LAMA5_HUMAN	D	2201	ENSP00000252999:A2201D	ENSP00000252999:A2201D	A	-	2	0	0	LAMA5	60329236	60329236	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	6.143000	0.71756	1.119000	0.41883	0.537000	0.68136	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_005560			51	50		231	225	1		1	1		0	0	45	0		1	9.999870e-01	0	13	0	66	0	51	231
LAMA5	3911	broad.mit.edu	37	20	60900582	60900582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1773	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGTTGCGCGTCTCCGTATGCC	0.617																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999094	0.990000	1.000000																										0				81						c.(5317-5319)gaG>gaA		laminin, alpha 5							64.0	49.0	54.0					20																	60900582		2203	4298	6501	SO:0001819	synonymous_variant	3911	0	0					g.chr20:60900582C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5319G>A	chr20.hg19:g.60900582C>T		0						p.E1773E	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	41	5385	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	1	1	hg19	c.5319G>A	CCDS33502.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_005560			24	24		154	153	0		1	1		0	0	26	0		9.999998e-01	9.998155e-01	0	8	0	84	0	24	154
LAMA5	3911	broad.mit.edu	37	20	60902965	60902965	+	Missense_Mutation	SNP	G	G	A	rs74781811	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902965G>A	ENST00000252999.3	-	36	4820	c.4754C>T	c.(4753-4755)gCg>gTg	p.A1585V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1585	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACGCCAGGCGCAGTGCCCGC	0.657													G|||	84	0.0167732	0.056	0.0086	5008	,	,		14052	0.0		0.004	False		,,,				2504	0.0					ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(4753-4755)gCg>gTg		laminin, alpha 5		G	VAL/ALA	196,4202		2,192,2005	29.0	33.0	32.0		4754	-1.9	0.0	20	dbSNP_131	32	68,8514		0,68,4223	no	missense	LAMA5	NM_005560.3	64	2,260,6228	AA,AG,GG		0.7924,4.4566,2.0339	benign	1585/3696	60902965	264,12716	2199	4291	6490	SO:0001583	missense	3911	1068	120886	62				g.chr20:60902965G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4754C>T	chr20.hg19:g.60902965G>A	ENSP00000252999:p.Ala1585Val	0						p.A1585V	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	36	4820	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	1	0	hg19	c.4754C>T	CCDS33502.1	1	42	0.019230769230769232	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	0.028	-1.357091	0.01245	0.044566	0.007924	ENSG00000130702	ENST00000252999	T	0.53206	0.63	4.62	-1.86	0.07760	4.62	-1.86	0.07760	EGF-like, laminin (3);	0.371325	0.29015	N	0.013402	T	0.00906	0.0030	N	0.00996	-1.065	0.09310	N	1	B	0.21309	0.054	B	0.13407	0.009	T	0.18209	-1.0344	10	0.28530	T	0.3	.	5.2917	0.15731	0.5559:0.0:0.1969:0.2473	.	1585	O15230	LAMA5_HUMAN	V	1585	ENSP00000252999:A1585V	ENSP00000252999:A1585V	A	-	2	0	0	LAMA5	60336360	60336360	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.411000	0.21115	-0.194000	0.10399	-0.972000	0.02603	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	0		20	7	2	1		1	1	58		58	57	1	2.060000	-1.725456	0	0.170000	NM_005560			91	91		285	279	1		1	1		1	0	58	0		1	9.999165e-01	0	47	0	40	0	91	285
LAMA5	3911	broad.mit.edu	37	20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1455	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGACACTGGCCCCCGAAGGG	0.627																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(4363-4365)gGc>gAc		laminin, alpha 5							49.0	51.0	50.0					20																	60903983		2202	4298	6500	SO:0001583	missense	3911	0	0					g.chr20:60903983C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4364G>A	chr20.hg19:g.60903983C>T	ENSP00000252999:p.Gly1455Asp	0						p.G1455D	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	34	4430	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	1	1	hg19	c.4364G>A	CCDS33502.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515262	0.85389	.	.	ENSG00000130702	ENST00000252999	T	0.75589	-0.95	4.47	3.49	0.39957	4.47	3.49	0.39957	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92980	0.6405	10	0.87932	D	0	.	13.4219	0.61003	0.1586:0.8414:0.0:0.0	.	1455	O15230	LAMA5_HUMAN	D	1455	ENSP00000252999:G1455D	ENSP00000252999:G1455D	G	-	2	0	0	LAMA5	60337378	60337378	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.245000	0.78237	0.794000	0.33899	0.455000	0.32223	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.754827	1	0.170000	NM_005560			77	76		289	285	1		1	1		0	0	59	0		1	9.999996e-01	0	31	0	52	0	77	289
FERMT1	55612	broad.mit.edu	37	20	6091159	6091159	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCAGGACTTACTGCAAGGCAG	0.383																																						ENST00000217289.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e5-1		fermitin family member 1							137.0	134.0	135.0					20																	6091159		2203	4300	6503	SO:0001630	splice_region_variant	55612	0	0					g.chr20:6091159C>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.533-1G>T	chr20.hg19:g.6091159C>A		0					FERMT1_ENST00000536936.1_Intron		NM_017671.4	NP_060141.3	1	2	3	1.995265	Q9BQL6	FERM1_HUMAN		5	1321	-			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	1	1	hg19		CCDS13098.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943291	0.53079	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FERMT1	6039159	6039159	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	5.684000	0.68197	2.756000	0.94617	0.655000	0.94253	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-4.391917	1	0.170000	NM_017671	Intron		107	104		369	357	1		1	1		0	0	107	0		1	3.167544e-01	0	4	0	1	0	107	369
LAMA5	3911	broad.mit.edu	37	20	60906108	60906108	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAAAGGCGCCGTGGCTGCTGA	0.687																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				81						c.(3628-3630)caC>caT		laminin, alpha 5							21.0	24.0	23.0					20																	60906108		2196	4299	6495	SO:0001819	synonymous_variant	3911	2	120666	29				g.chr20:60906108G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3630C>T	chr20.hg19:g.60906108G>A		0					MIR4758_ENST00000577688.1_RNA	p.H1210H	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	29	3696	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	1	1	hg19	c.3630C>T	CCDS33502.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_005560			23	22		87	87	0		1	1		0	0	24	0		9.999997e-01	9.999915e-01	0	16	0	64	0	23	87
LAMA5	3911	broad.mit.edu	37	20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	593	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCAAGGTTCCTGCAGGGCTG	0.672																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				81						c.(1777-1779)Gga>Tga		laminin, alpha 5							24.0	25.0	25.0					20																	60913186		2188	4291	6479	SO:0001587	stop_gained	3911	0	0					g.chr20:60913186C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1777G>T	chr20.hg19:g.60913186C>A	ENSP00000252999:p.Gly593*	0						p.G593*	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	14	1843	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	0	1	hg19	c.1777G>T	CCDS33502.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.406667	0.97542	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7301	0.57193	0.0:0.9138:0.0:0.0862	.	.	.	.	X	593	.	ENSP00000252999:G593X	G	-	1	0	0	LAMA5	60346581	60346581	1.000000	0.71417	0.933000	0.37362	0.047000	0.14425	6.650000	0.74368	2.456000	0.83038	0.585000	0.79938	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_005560			19	19		65	65	1		1	1		0	0	17	0		9.999963e-01	9.999716e-01	0	10	0	58	0	19	65
LAMA5	3911	broad.mit.edu	37	20	60921612	60921612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	ENST00000252999.3	-	9	1298	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	411	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGGTAGAAGCCGGGCAGGCA	0.687																																						ENST00000252999.3	1.000000	0.630000	1	9.600000e-01	0.990000	0.965907	0.990000	1.000000																										0				81						c.(1231-1233)gGc>gAc		laminin, alpha 5							64.0	75.0	71.0					20																	60921612		2145	4209	6354	SO:0001583	missense	3911	0	0					g.chr20:60921612C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1232G>A	chr20.hg19:g.60921612C>T	ENSP00000252999:p.Gly411Asp	0					LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D	p.G411D	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	9	1298	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	0	1	hg19	c.1232G>A	CCDS33502.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942024	0.73557	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.66995	-0.24;-0.24;-0.24	4.63	4.63	0.57726	4.63	4.63	0.57726	EGF-like, laminin (4);	0.111433	0.64402	D	0.000009	D	0.85902	0.5805	M	0.92970	3.365	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	D	0.89939	0.4071	10	0.72032	D	0.01	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	411	O15230	LAMA5_HUMAN	D	411	ENSP00000252999:G411D;ENSP00000359726:G411D;ENSP00000359711:G411D	ENSP00000252999:G411D	G	-	2	0	0	LAMA5	60355007	60355007	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	3.287000	0.51732	2.117000	0.64856	0.561000	0.74099	GGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-6.525565	1	0.170000	NM_005560			6	6		42	42	0		1	1		0	0	11	0		9.683490e-01	9.981834e-01	0	53	0	47	0	6	42
LAMA5	3911	broad.mit.edu	37	20	60922054	60922054	+	Silent	SNP	G	G	A	rs373324316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370692.3_Silent_p.C329C|LAMA5_ENST00000370677.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	329	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGTGCCCCCGCAGGTGTTGT	0.662																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				81						c.(985-987)tgC>tgT		laminin, alpha 5		C		1,4403	2.1+/-5.4	0,1,2201	34.0	35.0	34.0		987	-6.9	0.1	20		34	0,8584		0,0,4292	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		329/3696	60922054	1,12987	2202	4292	6494	SO:0001819	synonymous_variant	3911	5	120806	37				g.chr20:60922054G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.987C>T	chr20.hg19:g.60922054G>A		0					LAMA5_ENST00000370692.3_Silent_p.C329C|LAMA5_ENST00000370677.3_Silent_p.C329C	p.C329C	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	7	1053	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	1	1	hg19	c.987C>T	CCDS33502.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_005560			35	35		169	162	1		1	1		0	0	38	0		1	9.998171e-01	0	33	0	34	0	35	169
LAMA5	3911	broad.mit.edu	37	20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	RP11-157P1.5_ENST00000477848.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCCCGCAGCGCCTTCCCCAT	0.697																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				81						c.(829-831)gCg>gTg		laminin, alpha 5							43.0	33.0	36.0					20																	60926993		2200	4289	6489	SO:0001583	missense	3911	1	120392	30				g.chr20:60926993G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.830C>T	chr20.hg19:g.60926993G>A	ENSP00000252999:p.Ala277Val	0					RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA	p.A277V	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	5	896	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	1	1	hg19	c.830C>T	CCDS33502.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.382019	0.95967	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.36878	2.08;1.23;1.33	4.24	4.24	0.50183	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.117957	0.56097	U	0.000021	T	0.49115	0.1538	L	0.35341	1.055	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.6321	0.85036	0.0:0.0:1.0:0.0	.	277	O15230	LAMA5_HUMAN	V	277	ENSP00000252999:A277V;ENSP00000359726:A277V;ENSP00000359711:A277V	ENSP00000252999:A277V	A	-	2	0	0	LAMA5	60360388	60360388	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.737000	0.98831	1.915000	0.55452	0.486000	0.48141	GCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_005560			26	25		92	90	1		1	1		0	0	25	0		1	9.999911e-01	0	33	0	40	0	26	92
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-157P1.5_ENST00000477848.1_RNA|LAMA5_ENST00000370692.3_Silent_p.N227N|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370677.3_Silent_p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ccacctctccGTTCTCCAGGG	0.692																																						ENST00000252999.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(679-681)aaC>aaT		laminin, alpha 5							47.0	43.0	44.0					20																	60927304		2202	4293	6495	SO:0001819	synonymous_variant	3911	0	0					g.chr20:60927304G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.681C>T	chr20.hg19:g.60927304G>A		0					RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Silent_p.N227N|LAMA5_ENST00000370677.3_Silent_p.N227N|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA	p.N227N	NM_005560.3	NP_005551.3	1	2	3	1.995265	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)	4	747	-	Breast(26;1.57e-08)		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	1	1	hg19	c.681C>T	CCDS33502.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_005560			46	46		118	116	0		1	1		0	0	29	0		1	1	0	18	0	85	0	46	118
SLCO4A1	28231	broad.mit.edu	37	20	61303134	61303134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000370507.1	+	11	2154	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000217159.1_Silent_p.C686C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	686					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCATAGCCTGCTTCTTATACA	0.607																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000370507.1	1.000000	0.740000	1	8.300000e-01	0.940000	0.926725	0.940000	1.000000																										0				21						c.(2056-2058)tgC>tgT		solute carrier organic anion transporter family, member 4A1	Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						97.0	96.0	97.0					20																	61303134		2203	4300	6503	SO:0001819	synonymous_variant	28231	0	0					g.chr20:61303134C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2058C>T	chr20.hg19:g.61303134C>T		0					SLCO4A1_ENST00000217159.1_Silent_p.C686C	p.C686C			1	2	3	1.995265	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)	11	2154	+	Breast(26;3.65e-08)		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	1	1	hg19	c.2058C>T	CCDS13501.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	0	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-15.932420	1	0.170000	NM_016354			71	73		824	806	0		1	1		0	0	144	0		1	9.999807e-01	0	34	0	143	0	71	824
OGFR	11054	broad.mit.edu	37	20	61443875	61443875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	ENST00000290291.6	+	7	933	c.908C>T	c.(907-909)cCg>cTg	p.P303L	OGFR_ENST00000370461.1_Missense_Mutation_p.P251L	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	303					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CTGCCCCATCCGCTCGAGGGC	0.677																																						ENST00000290291.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999566	0.990000	1.000000																										0				17						c.(907-909)cCg>cTg		opioid growth factor receptor							8.0	8.0	8.0					20																	61443875		2167	4243	6410	SO:0001583	missense	11054	7	119090	31				g.chr20:61443875C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.908C>T	chr20.hg19:g.61443875C>T	ENSP00000290291:p.Pro303Leu	0					OGFR_ENST00000370461.1_Missense_Mutation_p.P251L	p.P303L	NM_007346.2	NP_031372.2	1	2	3	1.995265	Q9NZT2	OGFR_HUMAN		7	933	+	Breast(26;3.65e-08)		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	1	1	hg19	c.908C>T	CCDS13504.1	1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268057	0.23136	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.41758	1.97;0.99;1.53	4.31	-3.48	0.04739	4.31	-3.48	0.04739	.	0.418121	0.17082	N	0.187748	T	0.17704	0.0425	N	0.17474	0.49	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.06770	-1.0808	10	0.48119	T	0.1	-2.4852	0.6694	0.00856	0.3498:0.1736:0.1162:0.3604	.	303;286;303	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	L	303;303;303;158;251	ENSP00000290291:P303L;ENSP00000359499:P303L;ENSP00000359491:P251L	ENSP00000290291:P303L	P	+	2	0	0	OGFR	60914320	60914320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-0.506000	0.06558	-1.036000	0.02392	CCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999850	1	0.170000				12	12		43	42	0		1	1		0	0	12	0		9.994129e-01	9.999995e-01	0	35	0	99	0	12	43
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					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.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582																																						ENST00000335351.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G366G(1)	large_intestine(1)	9						c.(1096-1098)ggC>ggT		transcription factor-like 5 (basic helix-loop-helix)							114.0	106.0	108.0					20																	61488887		2203	4300	6503	SO:0001819	synonymous_variant	10732	0	0					g.chr20:61488887G>A	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.1098C>T	chr20.hg19:g.61488887G>A		0					TCFL5_ENST00000217162.5_Silent_p.G318G	p.G366G	NM_006602.2	NP_006593.2	1	2	3	1.995265	Q9UL49	TCFL5_HUMAN		4	1190	-	Breast(26;5.68e-08)		O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	1	1	hg19	c.1098C>T	CCDS13506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_006602			114	112		496	488	1		1	1		0	0	105	0		1	9.992355e-01	0	8	0	40	0	114	496
DIDO1	11083	broad.mit.edu	37	20	61511392	61511392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1972	Pro-rich.				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)			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)					GTGGTGAATGGACCCTCTGGT	0.562																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(5914-5916)gtC>gtT		death inducer-obliterator 1							131.0	153.0	146.0					20																	61511392		2203	4298	6501	SO:0001819	synonymous_variant	11083	0	0					g.chr20:61511392G>A	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.5916C>T	chr20.hg19:g.61511392G>A		0					DIDO1_ENST00000395343.1_Silent_p.V1972V	p.V1972V	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		16	6241	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.5916C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	1		2	2	2	0		0	0	260		260	256	1	2.060000	-20.000000	1	0.170000	NM_080796			251	249		1170	1157	1		1	1		0	0	260	0		1	9.999569e-01	0	18	0	49	0	251	1170
DIDO1	11083	broad.mit.edu	37	20	61512121	61512121	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1729	Pro-rich.				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)			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)					TGCCCTCGCCGGGTCTGGCCT	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(5185-5187)ccC>ccT		death inducer-obliterator 1							56.0	68.0	64.0					20																	61512121		2203	4297	6500	SO:0001819	synonymous_variant	11083	4	121348	40				g.chr20:61512121G>A	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.5187C>T	chr20.hg19:g.61512121G>A		0					DIDO1_ENST00000395343.1_Silent_p.P1729P	p.P1729P	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		16	5512	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.5187C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0		2	2	2	0		0	0	131		131	130	1	2.060000	-3.005211	1	0.170000	NM_080796			147	145		592	585	1		1	1		0	0	131	0		1	9.999515e-01	0	17	0	42	0	147	592
DIDO1	11083	broad.mit.edu	37	20	61512142	61512142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1722					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)			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)					GTGGCTCTCTGTCCCCCTCTG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(5164-5166)gaC>gaT		death inducer-obliterator 1							64.0	75.0	71.0					20																	61512142		2202	4299	6501	SO:0001819	synonymous_variant	11083	0	0					g.chr20:61512142G>A	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.5166C>T	chr20.hg19:g.61512142G>A		0					DIDO1_ENST00000395343.1_Silent_p.D1722D	p.D1722D	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		16	5491	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.5166C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	0		18	3	2	1		1	1	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_080796			122	122		593	584	0		1	1		1	0	137	0		1	9.902278e-01	0	15	0	32	0	122	593
DIDO1	11083	broad.mit.edu	37	20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1352					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)			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)					CGGCACCCCGTCCTCTGCTGT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(4054-4056)gAc>gGc		death inducer-obliterator 1							87.0	103.0	98.0					20																	61513253		2203	4300	6503	SO:0001583	missense	11083	0	0					g.chr20:61513253T>C	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.4055A>G	chr20.hg19:g.61513253T>C	ENSP00000266070:p.Asp1352Gly	0					DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	p.D1352G	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		16	4380	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.4055A>G	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158989	0.21454	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.4	0.574	0.17368	5.4	0.574	0.17368	.	0.754501	0.11133	N	0.596070	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.27082	T	0.32	-12.7922	5.3733	0.16152	0.0:0.3899:0.1524:0.4577	.	1352	Q9BTC0	DIDO1_HUMAN	G	1352	ENSP00000266070:D1352G;ENSP00000378752:D1352G	ENSP00000266070:D1352G	D	-	2	0	0	DIDO1	60983698	60983698	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.089000	0.11180	-0.059000	0.13154	0.460000	0.39030	GAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	145		145	142	1	2.060000	-20.000000	1	0.170000	NM_080796			172	172		731	716	1		1	1		0	0	145	0		1	9.999062e-01	0	18	0	40	0	172	731
DIDO1	11083	broad.mit.edu	37	20	61513636	61513636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1224					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)			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)					AGGCCGGAACGTCCGCTTCTT	0.532																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3670-3672)gaC>gaT		death inducer-obliterator 1							91.0	100.0	97.0					20																	61513636		2203	4300	6503	SO:0001819	synonymous_variant	11083	1	121410	30				g.chr20:61513636G>A	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.3672C>T	chr20.hg19:g.61513636G>A		0					DIDO1_ENST00000395343.1_Silent_p.D1224D	p.D1224D	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		16	3997	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.3672C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	145		145	141	1	2.060000	-20.000000	1	0.170000	NM_080796			171	164		654	646	1		1	1		0	0	145	0		1	9.998644e-01	0	20	0	31	0	171	654
DIDO1	11083	broad.mit.edu	37	20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1019					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)			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)					TGGGTCAGGAGATGAGGATGG	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3055-3057)tCt>tTt		death inducer-obliterator 1							111.0	93.0	99.0					20																	61525063		2203	4300	6503	SO:0001583	missense	11083	0	0					g.chr20:61525063G>A	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.3056C>T	chr20.hg19:g.61525063G>A	ENSP00000266070:p.Ser1019Phe	0					DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F	p.S1019F	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		12	3381	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.3056C>T	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277045	0.40294	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.93;2.93;2.62;2.62	5.95	4.82	0.62117	5.95	4.82	0.62117	.	0.220212	0.22789	U	0.055622	T	0.29652	0.0740	M	0.66939	2.045	0.46954	D	0.999263	D;D	0.64830	0.992;0.994	P;P	0.57502	0.822;0.809	T	0.00655	-1.1624	10	0.72032	D	0.01	-45.4857	13.2992	0.60315	0.0851:0.0:0.9149:0.0	.	1019;1019	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	1019	ENSP00000266070:S1019F;ENSP00000378752:S1019F;ENSP00000378749:S1019F;ENSP00000378744:S1019F	ENSP00000266070:S1019F	S	-	2	0	0	DIDO1	60995508	60995508	1.000000	0.71417	0.111000	0.21465	0.014000	0.08584	5.485000	0.66850	2.824000	0.97209	0.655000	0.94253	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_080796			110	106		409	400	1		1	1		0	0	96	0		1	9.999977e-01	0	19	0	52	0	110	409
DIDO1	11083	broad.mit.edu	37	20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1005					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)			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)					CACCATCACAGAAGTCAAGAC	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(3013-3015)tCt>tAt		death inducer-obliterator 1							127.0	105.0	112.0					20																	61525105		2203	4300	6503	SO:0001583	missense	11083	0	0					g.chr20:61525105G>T	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.3014C>A	chr20.hg19:g.61525105G>T	ENSP00000266070:p.Ser1005Tyr	0					DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y	p.S1005Y	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		12	3339	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.3014C>A	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297133	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12672	3.01;3.01;2.66;2.66	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.429288	0.17073	U	0.188086	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.11372	-1.0590	10	0.72032	D	0.01	-18.7404	12.7851	0.57500	0.0:0.0:0.8365:0.1635	.	1005;1005	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	1005	ENSP00000266070:S1005Y;ENSP00000378752:S1005Y;ENSP00000378749:S1005Y;ENSP00000378744:S1005Y	ENSP00000266070:S1005Y	S	-	2	0	0	DIDO1	60995550	60995550	0.273000	0.24181	0.008000	0.14137	0.001000	0.01503	3.724000	0.54962	2.824000	0.97209	0.655000	0.94253	TCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_080796			104	102		475	464	1		1	1		0	0	110	0		1	9.994258e-01	0	21	0	31	0	104	475
DIDO1	11083	broad.mit.edu	37	20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	619					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)			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)					CGTTGCCGCTGCAGGTGCCGG	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(1855-1857)gCa>gTa		death inducer-obliterator 1							48.0	53.0	51.0					20																	61528081		2203	4300	6503	SO:0001583	missense	11083	0	0					g.chr20:61528081G>A	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.1856C>T	chr20.hg19:g.61528081G>A	ENSP00000266070:p.Ala619Val	0					DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V	p.A619V	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		7	2181	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.1856C>T	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634833	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11604	3.11;3.11;2.76;2.76	5.71	-8.92	0.00774	5.71	-8.92	0.00774	.	0.584787	0.12503	N	0.463129	T	0.05227	0.0139	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.28618	-1.0038	10	0.23891	T	0.37	0.6734	10.4715	0.44640	0.519:0.2212:0.2597:0.0	.	619;619	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	619	ENSP00000266070:A619V;ENSP00000378752:A619V;ENSP00000378749:A619V;ENSP00000378744:A619V	ENSP00000266070:A619V	A	-	2	0	0	DIDO1	60998526	60998526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-2.225000	0.00724	-0.768000	0.03414	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_080796			105	105		471	463	1		1	1		0	0	113	0		1	9.998189e-01	0	14	0	44	0	105	471
DIDO1	11083	broad.mit.edu	37	20	61537393	61537393	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61537393T>C	ENST00000266070.4	-	6	1759	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	478					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)			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)					CCTTCTTCACTGTGGTCTCTT	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.100000	2.900000e-01	1.500000e-01	0.200000	0.252502	0.200000	0.200000																										0				99						c.(1432-1434)acA>acG		death inducer-obliterator 1							108.0	115.0	113.0					20																	61537393		2203	4300	6503	SO:0001819	synonymous_variant	11083	0	0					g.chr20:61537393T>C	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.1434A>G	chr20.hg19:g.61537393T>C		0					DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T	p.T478T	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		6	1759	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	0	1	hg19	c.1434A>G	CCDS33506.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-8.974365	1	0.170000	NM_080796			12	12		694	681	0		1	1		0	0	118	0		9.990145e-01	5.031635e-01	0	2	0	92	0	12	694
DIDO1	11083	broad.mit.edu	37	20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	289					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)			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)					GAAACCATTCTTCACAGCGGT	0.428																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(865-867)gaA>gaT		death inducer-obliterator 1							68.0	68.0	68.0					20																	61541345		2203	4300	6503	SO:0001583	missense	11083	0	0					g.chr20:61541345T>A	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.867A>T	chr20.hg19:g.61541345T>A	ENSP00000266070:p.Glu289Asp	0					DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D	p.E289D	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		4	1192	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.867A>T	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993549	0.54041	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;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;1.02	5.54	0.131	0.14755	5.54	0.131	0.14755	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	D	0.000481	T	0.46541	0.1398	L	0.31207	0.915	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.982;0.982;0.975;0.994	T	0.19647	-1.0299	10	0.38643	T	0.18	-43.9968	11.2889	0.49239	0.0:0.4749:0.0:0.5251	.	289;289;289;289	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	289	ENSP00000266070:E289D;ENSP00000378752:E289D;ENSP00000378749:E289D;ENSP00000378744:E289D;ENSP00000359397:E289D;ENSP00000359394:E289D;ENSP00000346692:E289D;ENSP00000359391:E289D;ENSP00000266071:E289D	ENSP00000266070:E289D	E	-	3	2	2	DIDO1	61011790	61011790	0.845000	0.29573	0.996000	0.52242	0.145000	0.21501	-0.014000	0.12656	-0.161000	0.10983	-0.366000	0.07423	GAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_080796			87	85		304	297	1		1	1		0	0	78	0		1	9.999996e-01	0	16	0	61	0	87	304
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					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.G211G(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)					TGGGCAGGACGCCCTCCACAG	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G211G(1)	large_intestine(1)	99						c.(631-633)ggC>ggT		death inducer-obliterator 1							59.0	63.0	62.0					20																	61542332		2203	4300	6503	SO:0001819	synonymous_variant	11083	0	0					g.chr20:61542332G>A	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.633C>T	chr20.hg19:g.61542332G>A		0					DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G	p.G211G	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		3	958	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.633C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.216719	1	0.170000	NM_080796			76	71		347	334	1		1	1		0	0	75	0		1	9.999992e-01	0	16	0	79	0	76	347
DIDO1	11083	broad.mit.edu	37	20	61542497	61542497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	156					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)			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)					TCAGGCCATCGCTGTCACTAT	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(466-468)agC>agT		death inducer-obliterator 1							93.0	72.0	80.0					20																	61542497		2203	4300	6503	SO:0001819	synonymous_variant	11083	2	121412	37				g.chr20:61542497G>A	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.468C>T	chr20.hg19:g.61542497G>A		0					DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S	p.S156S	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		3	793	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.468C>T	CCDS33506.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-4.123245	1	0.170000	NM_080796			97	94		347	343	0		1	1		0	0	81	0		1	9.999983e-01	0	15	0	56	0	97	347
DIDO1	11083	broad.mit.edu	37	20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	82					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)			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)					CCGCGGCGCCGCGCAATGGTC	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(244-246)Cgg>Tgg		death inducer-obliterator 1							28.0	28.0	28.0					20																	61542721		2201	4297	6498	SO:0001583	missense	11083	0	0					g.chr20:61542721G>A	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.244C>T	chr20.hg19:g.61542721G>A	ENSP00000266070:p.Arg82Trp	0					DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W	p.R82W	NM_033081.2	NP_149072.2	1	2	3	1.995265	Q9BTC0	DIDO1_HUMAN		3	569	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	1	1	hg19	c.244C>T	CCDS33506.1	1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805430	0.50315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.26223	2.58;2.58;2.27;2.27;1.75;1.75;1.75;1.77;1.77	5.83	3.76	0.43208	5.83	3.76	0.43208	.	0.000000	0.38663	U	0.001609	T	0.49133	0.1539	M	0.72118	2.19	0.38829	D	0.955809	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	0.55309	-0.8161	10	0.87932	D	0	-23.3203	13.2476	0.60031	0.0:0.0:0.5804:0.4196	.	82;82;82;82	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	W	82	ENSP00000266070:R82W;ENSP00000378752:R82W;ENSP00000378749:R82W;ENSP00000378744:R82W;ENSP00000359397:R82W;ENSP00000359394:R82W;ENSP00000346692:R82W;ENSP00000359391:R82W;ENSP00000266071:R82W	ENSP00000266070:R82W	R	-	1	2	2	DIDO1	61013166	61013166	0.997000	0.39634	0.016000	0.15963	0.030000	0.12068	3.413000	0.52686	0.774000	0.33427	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.707831	1	0.170000	NM_080796			46	45		179	178	1		1	1		0	0	38	0		1	9.321124e-01	0	2	0	18	0	46	179
SLC17A9	63910	broad.mit.edu	37	20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370351.4	+	6	849	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC17A9_ENST00000370349.3_Missense_Mutation_p.A234T|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	240					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCGGAAGCCTGCTGTCTGGTG	0.662																																						ENST00000370351.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				23						c.(718-720)Gct>Act		solute carrier family 17 (vesicular nucleotide transporter), member 9							35.0	40.0	39.0					20																	61594714		1988	4153	6141	SO:0001583	missense	63910	0	0					g.chr20:61594714G>A	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.718G>A	chr20.hg19:g.61594714G>A	ENSP00000359376:p.Ala240Thr	0					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.A234T	p.A240T	NM_022082.3	NP_071365	1	2	3	1.995265	Q9BYT1	S17A9_HUMAN		6	849	+			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	0	1	hg19	c.718G>A	CCDS42901.1	1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881654	0.51908	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58506	0.33;0.33	4.86	-0.457	0.12186	4.86	-0.457	0.12186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169290	0.52532	D	0.000070	T	0.62600	0.2441	M	0.69523	2.12	0.39879	D	0.973615	P;B;B	0.35033	0.481;0.17;0.294	P;P;B	0.48982	0.597;0.474;0.343	T	0.62388	-0.6865	10	0.72032	D	0.01	.	6.8034	0.23764	0.0:0.1911:0.6399:0.169	.	260;240;234	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	240;234	ENSP00000359376:A240T;ENSP00000359374:A234T	ENSP00000359374:A234T	A	+	1	0	0	SLC17A9	61065159	61065159	0.865000	0.29922	0.985000	0.45067	0.768000	0.43524	1.349000	0.33998	-0.045000	0.13468	0.313000	0.20887	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_022082			28	27		144	144	0		1	1		0	0	18	0		1	9.819634e-01	0	8	0	28	0	28	144
SLC17A9	63910	broad.mit.edu	37	20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370351.4	+	13	1408	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	SLC17A9_ENST00000370349.3_Missense_Mutation_p.R420M|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	426					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGCTCAGAGGGTGGACCTG	0.612																																						ENST00000370351.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.990463	0.990000	1.000000																										0				23						c.(1276-1278)aGg>aTg		solute carrier family 17 (vesicular nucleotide transporter), member 9							141.0	151.0	148.0					20																	61598818		2075	4199	6274	SO:0001583	missense	63910	0	0					g.chr20:61598818G>T	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.1277G>T	chr20.hg19:g.61598818G>T	ENSP00000359376:p.Arg426Met	0					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R420M	p.R426M	NM_022082.3	NP_071365	1	2	3	1.995265	Q9BYT1	S17A9_HUMAN		13	1408	+			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	1	1	hg19	c.1277G>T	CCDS42901.1	1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904909	0.72868	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62941	-0.01;-0.01	4.9	3.95	0.45737	4.9	3.95	0.45737	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.81571	-0.0872	10	0.62326	D	0.03	.	13.016	0.58757	0.0785:0.0:0.9215:0.0	.	426;420	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	426;420	ENSP00000359376:R426M;ENSP00000359374:R420M	ENSP00000359374:R420M	R	+	2	0	0	SLC17A9	61069263	61069263	1.000000	0.71417	0.592000	0.28758	0.922000	0.55478	8.223000	0.89779	1.053000	0.40415	0.561000	0.74099	AGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-2.966611	1	0.170000	NM_022082			63	62		597	584	0		1	1		0	0	117	0		1	9.698655e-01	0	3	0	52	0	63	597
BHLHE23	128408	broad.mit.edu	37	20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	152	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697																																						ENST00000370346.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998688	0.990000	1.000000																										0				1						c.(454-456)Ctc>Atc		basic helix-loop-helix family, member e23							25.0	24.0	24.0					20																	61637625		2200	4297	6497	SO:0001583	missense	128408	0	0					g.chr20:61637625G>T	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.454C>A	chr20.hg19:g.61637625G>T	ENSP00000359371:p.Leu152Ile	0						p.L152I	NM_080606.3	NP_542173	1	2	3	1.995265	Q8NDY6	BHE23_HUMAN		1	762	-			B2RP69	Missense_Mutation	SNP	ENST00000370346.2	1	1	hg19	c.454C>A	CCDS33507.1	1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795670	0.70452	.	.	ENSG00000125533	ENST00000370346	D	0.98060	-4.69	3.39	3.39	0.38822	3.39	3.39	0.38822	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000002	D	0.96549	0.8874	L	0.28115	0.83	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	D	0.95625	0.8684	10	0.37606	T	0.19	-16.4293	13.7577	0.62946	0.0:0.0:1.0:0.0	.	152	Q8NDY6	BHE23_HUMAN	I	152	ENSP00000359371:L152I	ENSP00000359371:L152I	L	-	1	0	0	BHLHE23	61108070	61108070	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.137000	0.64789	1.421000	0.47157	0.491000	0.48974	CTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_080606			22	22		142	139	0		1			0	0	38	0		9.999991e-01	0	0	0	0	0	0	22	142
YTHDF1	54915	broad.mit.edu	37	20	61834989	61834989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	101							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532																																						ENST00000370339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(301-303)caC>caT		YTH domain family, member 1							101.0	104.0	103.0					20																	61834989		2203	4300	6503	SO:0001819	synonymous_variant	54915	0	0					g.chr20:61834989G>A	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.303C>T	chr20.hg19:g.61834989G>A		0					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	p.H101H	NM_017798.3	NP_060268.2	1	2	3	1.995265	Q9BYJ9	YTHD1_HUMAN		4	644	-			Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	1	1	hg19	c.303C>T	CCDS13511.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_017798			81	80		369	361	1		1	1		0	0	81	0		1	1	0	54	0	130	0	81	369
ARFGAP1	55738	broad.mit.edu	37	20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370283.4	+	4	471	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F111V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	111	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562																																						ENST00000370283.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(331-333)Ttt>Gtt		ADP-ribosylation factor GTPase activating protein 1							50.0	46.0	48.0					20																	61907992		2203	4300	6503	SO:0001583	missense	55738	0	0					g.chr20:61907992T>G	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.331T>G	chr20.hg19:g.61907992T>G	ENSP00000359306:p.Phe111Val	0					ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F111V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V	p.F111V	NM_018209.2	NP_060679.1	1	2	3	1.995265	Q8N6T3	ARFG1_HUMAN		4	471	+	all_cancers(38;1.59e-09)		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	1	1	hg19	c.331T>G	CCDS13515.1	1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849298	0.71603	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.54071	0.85;0.59;0.68;0.85;0.85;0.7;0.85;0.85;0.85	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.052580	0.85682	D	0.000000	T	0.65995	0.2745	L	0.52573	1.65	0.80722	D	1	P;D;P;P	0.63046	0.955;0.992;0.791;0.793	P;D;P;P	0.68483	0.902;0.958;0.68;0.683	T	0.69745	-0.5062	10	0.87932	D	0	0.8551	14.5528	0.68078	0.0:0.0:0.0:1.0	.	58;111;111;111	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	V	111;37;37;58;111;37;111;111;111	ENSP00000359306:F111V;ENSP00000449800:F37V;ENSP00000447037:F37V;ENSP00000430500:F58V;ENSP00000359298:F111V;ENSP00000429674:F37V;ENSP00000314615:F111V;ENSP00000430929:F111V;ENSP00000449515:F111V	ENSP00000314615:F111V	F	+	1	0	0	ARFGAP1	61378437	61378437	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.555000	0.82223	1.900000	0.55004	0.460000	0.39030	TTT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_018209			36	35		169	164	1		1	1		0	0	34	0		1	1	0	42	0	96	0	36	169
ARFGAP1	55738	broad.mit.edu	37	20	61912699	61912699	+	Splice_Site	SNP	C	C	T	rs6122111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61912699C>T	ENST00000370283.4	+	8	824	c.684C>T	c.(682-684)ggC>ggT	p.G228G	ARFGAP1_ENST00000370275.4_Splice_Site_p.G228G|ARFGAP1_ENST00000547204.1_Splice_Site_p.G154G|ARFGAP1_ENST00000519273.2_Splice_Site_p.G115G|ARFGAP1_ENST00000353546.3_Splice_Site_p.G228G|ARFGAP1_ENST00000519604.1_Splice_Site_p.G175G	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCAAGGAGGGCGTAAGTCACT	0.662																																						ENST00000370283.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997179	0.990000	1.000000																										0				13						c.(682-684)ggC>ggT		ADP-ribosylation factor GTPase activating protein 1							28.0	20.0	22.0					20																	61912699		2195	4286	6481	SO:0001630	splice_region_variant	55738	0	0					g.chr20:61912699C>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.684+1C>T	chr20.hg19:g.61912699C>T		0					ARFGAP1_ENST00000370275.4_Splice_Site_p.G228G|ARFGAP1_ENST00000547204.1_Splice_Site_p.G154G|ARFGAP1_ENST00000519273.2_Splice_Site_p.G115G|ARFGAP1_ENST00000353546.3_Splice_Site_p.G228G|ARFGAP1_ENST00000519604.1_Splice_Site_p.G175G	p.G228G	NM_018209.2	NP_060679.1	1	2	3	1.995265	Q8N6T3	ARFG1_HUMAN		8	824	+	all_cancers(38;1.59e-09)		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Splice_Site	SNP	ENST00000370283.4	1	0	hg19	c.684C>T	CCDS13515.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-19.245800	1	0.170000	NM_018209	Silent		10	9		47	47	1		1	1		0	0	18	0		9.975299e-01	9.999966e-01	0	17	0	133	0	10	47
COL20A1	57642	broad.mit.edu	37	20	61926468	61926468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61926468C>T	ENST00000358894.6	+	2	109	c.9C>T	c.(7-9)tcC>tcT	p.S3S	COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000422202.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	3					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCATGAGCTCCGGAGACCCTG	0.647																																						ENST00000358894.6	1.000000	0.720000	1	9.900000e-01	0.990000	0.982256	0.990000	1.000000																										0				36						c.(7-9)tcC>tcT		collagen, type XX, alpha 1							13.0	17.0	16.0					20																	61926468		1990	4068	6058	SO:0001819	synonymous_variant	57642	1	101772	34				g.chr20:61926468C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.9C>T	chr20.hg19:g.61926468C>T		0					COL20A1_ENST00000422202.1_Silent_p.S3S|COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S	p.S3S	NM_020882.2	NP_065933.2	1	2	3	1.995265	Q9P218	COKA1_HUMAN		2	109	+	all_cancers(38;1.39e-10)		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	0	1	hg19	c.9C>T	CCDS46628.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-11.394640	1	0.170000	NM_020882			4	3		14	13	0		1			0	0	8	0		8.686636e-01	0	0	0	0	0	0	4	14
COL20A1	57642	broad.mit.edu	37	20	61958146	61958146	+	Nonsense_Mutation	SNP	C	C	T	rs577136410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	ENST00000358894.6	+	31	3599	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1167	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TAGTGGAGAGCGAGGACCTCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18508	0.0		0.001	False		,,,				2504	0.0					ENST00000358894.6	1.000000	0.970000	1	9.900000e-01	0.990000	0.996431	0.990000	1.000000																										0				36						c.(3499-3501)Cga>Tga		collagen, type XX, alpha 1							29.0	33.0	31.0					20																	61958146		1986	4149	6135	SO:0001587	stop_gained	57642	6	120338	34				g.chr20:61958146C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3499C>T	chr20.hg19:g.61958146C>T	ENSP00000351767:p.Arg1167*	0					COL20A1_ENST00000422202.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*	p.R1167*	NM_020882.2	NP_065933.2	1	2	3	1.995265	Q9P218	COKA1_HUMAN		31	3599	+	all_cancers(38;1.39e-10)		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Nonsense_Mutation	SNP	ENST00000358894.6	0	1	hg19	c.3499C>T	CCDS46628.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.702925	0.97776	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.92	0.239	0.15484	3.92	0.239	0.15484	.	0.240310	0.34046	U	0.004304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.5301	0.16980	0.6065:0.281:0.0:0.1126	.	.	.	.	X	1167;1199;1174;1174;302;157	.	ENSP00000323077:R1199X	R	+	1	2	2	COL20A1	61428590	61428590	0.056000	0.20664	0.946000	0.38457	0.007000	0.05969	0.001000	0.13038	0.168000	0.19655	-0.666000	0.03841	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-17.833490	1	0.170000	NM_020882			9	9		41	41	0		1			0	0	8	0		9.956807e-01	0	0	0	0	0	0	9	41
COL20A1	57642	broad.mit.edu	37	20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000358894.6	+	31	3608	c.3508C>A	c.(3508-3510)Cca>Aca	p.P1170T	COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000422202.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1170	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGAGGACCTCCAGGGACCGT	0.622																																						ENST00000358894.6	1.000000	0.940000	1	9.900000e-01	0.990000	0.995399	0.990000	1.000000																										0				36						c.(3508-3510)Cca>Aca		collagen, type XX, alpha 1							30.0	34.0	32.0					20																	61958155		1985	4151	6136	SO:0001583	missense	57642	0	0					g.chr20:61958155C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3508C>A	chr20.hg19:g.61958155C>A	ENSP00000351767:p.Pro1170Thr	0					COL20A1_ENST00000422202.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T	p.P1170T	NM_020882.2	NP_065933.2	1	2	3	1.995265	Q9P218	COKA1_HUMAN		31	3608	+	all_cancers(38;1.39e-10)		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	0	1	hg19	c.3508C>A	CCDS46628.1	1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240504	0.22711	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.63;-2.63;-2.63;-2.63;-2.75;-2.75	3.92	1.93	0.25924	3.92	1.93	0.25924	.	0.239997	0.32416	U	0.006123	D	0.91831	0.7415	M	0.62016	1.91	0.34361	D	0.691012	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	D	0.89616	0.3845	10	0.40728	T	0.16	.	4.0991	0.10005	0.0:0.5812:0.1972:0.2216	.	1177;1170	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1170;1202;1177;1177;305;160	ENSP00000351767:P1170T;ENSP00000323077:P1202T;ENSP00000408690:P1177T;ENSP00000414753:P1177T;ENSP00000410799:P305T;ENSP00000406345:P160T	ENSP00000323077:P1202T	P	+	1	0	0	COL20A1	61428599	61428599	0.037000	0.19845	0.339000	0.25562	0.023000	0.10783	1.718000	0.38001	0.165000	0.19558	0.313000	0.20887	CCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-17.616870	1	0.170000	NM_020882			9	9		44	44	0		1			0	0	8	0		9.955977e-01	0	0	0	0	0	0	9	44
CHRNA4	1137	broad.mit.edu	37	20	61981707	61981707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	352					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				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)	GCAGGCGTGGCACGATGTCCA	0.632																																						ENST00000370263.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1054-1056)gtG>gtA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	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)						110.0	78.0	89.0					20																	61981707		2203	4300	6503	SO:0001819	synonymous_variant	1137	0	0					g.chr20:61981707C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1056G>A	chr20.hg19:g.61981707C>T		0					CHRNA4_ENST00000463705.1_5'UTR	p.V352V	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	1	2	3	1.995265	P43681	ACHA4_HUMAN		5	1277	-	all_cancers(38;1.71e-10)		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	1	1	hg19	c.1056G>A	CCDS13517.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				64	65		253	245	1		1			0	0	62	0		1	0	0	0	0	0	0	64	253
CHRNA4	1137	broad.mit.edu	37	20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	270					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				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)	TCGCCACACTCGGAGGGCAGG	0.597																																						ENST00000370263.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(808-810)Gag>Aag		cholinergic receptor, nicotinic, alpha 4 (neuronal)	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)						244.0	183.0	204.0					20																	61981955		2203	4300	6503	SO:0001583	missense	1137	2	121402	34				g.chr20:61981955C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.808G>A	chr20.hg19:g.61981955C>T	ENSP00000359285:p.Glu270Lys	0					CHRNA4_ENST00000463705.1_5'UTR	p.E270K	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	1	2	3	1.995265	P43681	ACHA4_HUMAN		5	1029	-	all_cancers(38;1.71e-10)		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	1	1	hg19	c.808G>A	CCDS13517.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290988	0.80914	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72615	-0.67	5.06	4.08	0.47627	5.06	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.379961	0.31542	N	0.007480	T	0.70456	0.3226	L	0.55834	1.745	0.53688	D	0.999979	D;P	0.53462	0.96;0.807	P;B	0.46110	0.504;0.208	T	0.74864	-0.3519	10	0.87932	D	0	.	15.1965	0.73096	0.0:0.8582:0.1418:0.0	.	199;270	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	176;270;199	ENSP00000359285:E270K	ENSP00000359280:E176K	E	-	1	0	0	CHRNA4	61452399	61452399	0.999000	0.42202	0.111000	0.21465	0.881000	0.50899	3.987000	0.56944	1.050000	0.40346	0.655000	0.94253	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.102508	1	0.170000				58	57		291	281	1		1			0	0	73	0		1	0	0	0	0	0	0	58	291
KCNQ2	3785	broad.mit.edu	37	20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000359125.2	-	13	1640	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	489					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCCCGGCTGCGGTCCCCGAA	0.692																																						ENST00000359125.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1465-1467)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						57.0	66.0	63.0					20																	62046315		2203	4300	6503	SO:0001583	missense	3785	0	0					g.chr20:62046315C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1466G>A	chr20.hg19:g.62046315C>T	ENSP00000352035:p.Arg489His	0					KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H	p.R489H	NM_172107.2	NP_742105.1	1	2	3	1.995265	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	13	1640	-	all_cancers(38;1.24e-11)		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	1	1	hg19	c.1466G>A	CCDS13520.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888755	0.72524	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.26	5.26	0.73747	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.140241	0.47852	D	0.000206	D	0.98988	0.9655	L	0.47190	1.495	0.50313	D	0.999868	B;B;B;B	0.33379	0.41;0.41;0.41;0.273	B;B;B;B	0.26202	0.018;0.027;0.04;0.067	D	0.99875	1.1103	10	0.87932	D	0	-15.9725	18.8445	0.92200	0.0:1.0:0.0:0.0	.	461;471;459;489	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	471;489;459;461;489;459;461;449;461;461	ENSP00000349789:R471H;ENSP00000352035:R489H;ENSP00000359246:R459H;ENSP00000346601:R461H;ENSP00000352718:R489H;ENSP00000399612:R459H;ENSP00000353668:R461H;ENSP00000339611:R449H;ENSP00000359244:R461H;ENSP00000359242:R461H	ENSP00000339611:R449H	R	-	2	0	0	KCNQ2	61516759	61516759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.462000	0.83206	0.478000	0.44815	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-3.348783	1	0.170000	NM_172109			118	118		507	502	1		1			0	0	105	0		1	0	0	0	0	0	0	118	507
KCNQ2	3785	broad.mit.edu	37	20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000359125.2	-	8	1240	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	356					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTGGAGTGCAGGTCTGTGCGC	0.627																																						ENST00000359125.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1066-1068)Ctg>Atg		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						129.0	106.0	114.0					20																	62065214		2203	4300	6503	SO:0001583	missense	3785	0	0					g.chr20:62065214G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1066C>A	chr20.hg19:g.62065214G>T	ENSP00000352035:p.Leu356Met	0					KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M	p.L356M	NM_172107.2	NP_742105.1	1	2	3	1.995265	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	8	1240	-	all_cancers(38;1.24e-11)		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	1	1	hg19	c.1066C>A	CCDS13520.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720439	0.89205	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99298	-5.47;-5.61;-5.61;-5.45;-5.63;-5.47;-5.51;-5.57;-5.45;-5.53;-5.71;-5.24	4.93	2.97	0.34412	4.93	2.97	0.34412	.	0.000000	0.53938	D	0.000054	D	0.98607	0.9534	L	0.42245	1.32	0.51482	D	0.999927	D;B;D;D;D;D	0.62365	0.987;0.451;0.991;0.984;0.958;0.973	P;B;P;P;P;P	0.61800	0.601;0.126;0.894;0.894;0.793;0.786	D	0.98376	1.0556	10	0.72032	D	0.01	-32.1885	10.1405	0.42732	0.1606:0.0:0.8394:0.0	.	356;356;356;356;356;356	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	356	ENSP00000349789:L356M;ENSP00000352035:L356M;ENSP00000359246:L356M;ENSP00000346601:L356M;ENSP00000352718:L356M;ENSP00000399612:L356M;ENSP00000353668:L356M;ENSP00000339611:L356M;ENSP00000359244:L356M;ENSP00000359242:L356M;ENSP00000359241:L356M;ENSP00000345523:L356M	ENSP00000345523:L356M	L	-	1	2	2	KCNQ2	61535658	61535658	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.238000	0.58688	1.089000	0.41292	0.655000	0.94253	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	1		2	2	2	0		0	0	83		83	79	1	2.060000	-20.000000	1	0.170000	NM_172109			102	100		432	426	1		1	0		0	0	83	0		1	0	0	1	0	0	0	102	432
KCNQ2	3785	broad.mit.edu	37	20	62070950	62070950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000359125.2	-	6	1102		c.e6+1		KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTGGACTTACTGCAGGCAGC	0.642																																						ENST00000359125.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				65						c.e6+1		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						130.0	101.0	111.0					20																	62070950		2203	4300	6503	SO:0001630	splice_region_variant	3785	0	0					g.chr20:62070950C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.927+1G>A	chr20.hg19:g.62070950C>T		0					KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site		NM_172107.2	NP_742105.1	1	2	3	1.995265	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	6	1102	-	all_cancers(38;1.24e-11)		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Splice_Site	SNP	ENST00000359125.2	1	1	hg19		CCDS13520.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980181	0.34942	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	.	.	.	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KCNQ2	61541394	61541394	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_172109	Intron		55	54		330	325	1		1			0	0	76	0		1	0	0	0	0	0	0	55	330
EEF1A2	1917	broad.mit.edu	37	20	62120272	62120272	+	Splice_Site	SNP	G	G	A	rs115107511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62120272G>A	ENST00000298049.7	-	6	1333	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	EEF1A2_ENST00000217182.3_Splice_Site_p.L421L			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	421					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCGGCTCACCGAGAGGCGGGT	0.672													g|||	27	0.00539137	0.0174	0.0058	5008	,	,		14340	0.0		0.0	False		,,,				2504	0.0					ENST00000298049.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1261-1263)ctC>ctT		eukaryotic translation elongation factor 1 alpha 2				49,4317		0,49,2134	23.0	25.0	24.0		1263	-1.0	1.0	20	dbSNP_132	24	3,8521		0,3,4259	no	coding-synonymous-near-splice	EEF1A2	NM_001958.2		0,52,6393	AA,AG,GG		0.0352,1.1223,0.4034		421/464	62120272	52,12838	2183	4262	6445	SO:0001630	splice_region_variant	1917	163	120032	51				g.chr20:62120272G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1264+1C>T	chr20.hg19:g.62120272G>A		0					EEF1A2_ENST00000217182.3_Splice_Site_p.L421L	p.L421L			1	2	3	1.995265	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)	6	1333	-	all_cancers(38;9.45e-12)		B5BUF3|E1P5J1|P54266|Q0VGC7	Splice_Site	SNP	ENST00000298049.7	1	0	hg19	c.1263C>T	CCDS13522.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	1	0	1		2	2	2	0		0	0	44		44	34	1	2.060000	-3.489620	1	0.170000	NM_001958	Silent		42	40		198	178	0		1	1		0	0	44	0		1	9.731246e-01	0	2	0	28	0	42	198
PTK6	5753	broad.mit.edu	37	20	62164956	62164956	+	Silent	SNP	G	G	A	rs61736391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	AGAGCCCCTCGAAGACCTCCC	0.647																																						ENST00000217185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(616-618)ttC>ttT		protein tyrosine kinase 6	Vandetanib(DB05294)						82.0	87.0	85.0					20																	62164956		2203	4300	6503	SO:0001819	synonymous_variant	5753	17	121412	48				g.chr20:62164956G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.618C>T	chr20.hg19:g.62164956G>A		0					PTK6_ENST00000542869.1_Silent_p.F105F	p.F206F	NM_005975.3	NP_005966.1	1	2	3	1.995265	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)	4	645	-	all_cancers(38;2.51e-11)		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	1	1	hg19	c.618C>T	CCDS13524.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.017861	1	0.170000				94	92		535	525	1		1	1		0	0	97	0		1	9.999994e-01	0	51	0	64	0	94	535
PTK6	5753	broad.mit.edu	37	20	62166298	62166298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CACCCGACAGGACGTAGTCGG	0.706																																						ENST00000217185.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(343-345)gtC>gtT		protein tyrosine kinase 6	Vandetanib(DB05294)						12.0	15.0	14.0					20																	62166298		2179	4279	6458	SO:0001819	synonymous_variant	5753	0	0					g.chr20:62166298G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.345C>T	chr20.hg19:g.62166298G>A		0					PTK6_ENST00000542869.1_Intron	p.V115V	NM_005975.3	NP_005966.1	1	2	3	1.995265	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)	2	372	-	all_cancers(38;2.51e-11)		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	1	1	hg19	c.345C>T	CCDS13524.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000				25	25		69	69	1		1	1		0	0	21	0		1	9.998442e-01	0	19	0	25	0	25	69
SRMS	6725	broad.mit.edu	37	20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	rs139360881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGAAGACACGATAATTGGC	0.617																																						ENST00000217188.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1201-1203)cGt>cAt		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		C	HIS/ARG	0,4406		0,0,2203	108.0	115.0	113.0		1202	1.8	0.0	20	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	401/489	62172627	1,13005	2203	4300	6503	SO:0001583	missense	6725	1	121268	46				g.chr20:62172627C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1202G>A	chr20.hg19:g.62172627C>T	ENSP00000217188:p.Arg401His	0						p.R401H	NM_080823.2	NP_543013.1	1	2	3	1.995265	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)	7	1242	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)			Missense_Mutation	SNP	ENST00000217188.1	1	1	hg19	c.1202G>A	CCDS13525.1	1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546856	0.13312	0.0	1.16E-4	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.83	1.78	0.24846	4.83	1.78	0.24846	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.386473	0.21692	N	0.070556	T	0.74816	0.3766	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65401	-0.6177	10	0.66056	D	0.02	.	9.3378	0.38060	0.0:0.6934:0.0:0.3066	.	401	Q9H3Y6	SRMS_HUMAN	H	401	ENSP00000217188:R401H	ENSP00000217188:R401H	R	-	2	0	0	SRMS	61643071	61643071	0.034000	0.19679	0.000000	0.03702	0.007000	0.05969	0.815000	0.27253	0.193000	0.20303	-0.263000	0.10527	CGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-20.000000	1	0.170000	NM_080823			162	159		767	754	1		1	1		0	0	183	0		1	8.674896e-01	0	11	0	8	0	162	767
SRMS	6725	broad.mit.edu	37	20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	90	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCCTGCGTGCGAAGATGTAG	0.677																																						ENST00000217188.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(268-270)Gca>Aca		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							94.0	99.0	97.0					20																	62178549		2202	4298	6500	SO:0001583	missense	6725	6	121060	40				g.chr20:62178549C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.268G>A	chr20.hg19:g.62178549C>T	ENSP00000217188:p.Ala90Thr	0						p.A90T	NM_080823.2	NP_543013.1	1	2	3	1.995265	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)	1	308	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)			Missense_Mutation	SNP	ENST00000217188.1	1	1	hg19	c.268G>A	CCDS13525.1	1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090229	0.36855	.	.	ENSG00000125508	ENST00000217188	T	0.51817	0.69	4.24	4.24	0.50183	4.24	4.24	0.50183	Src homology-3 domain (3);	0.000000	0.53938	D	0.000053	T	0.51787	0.1695	M	0.89658	3.05	0.42584	D	0.993225	P	0.34699	0.464	B	0.31751	0.135	T	0.57745	-0.7758	10	0.36615	T	0.2	.	10.051	0.42216	0.0:0.9043:0.0:0.0957	.	90	Q9H3Y6	SRMS_HUMAN	T	90	ENSP00000217188:A90T	ENSP00000217188:A90T	A	-	1	0	0	SRMS	61648993	61648993	0.984000	0.35163	0.101000	0.21167	0.005000	0.04900	2.625000	0.46452	1.899000	0.54978	0.491000	0.48974	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	0		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_080823			52	51		192	189	1		1			0	0	55	0		1	0	0	0	0	0	0	52	192
SRMS	6725	broad.mit.edu	37	20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGACACTCAGCTCCCCGCCA	0.697																																						ENST00000217188.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				19						c.(208-210)Ctg>Atg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							113.0	116.0	115.0					20																	62178609		2191	4271	6462	SO:0001583	missense	6725	0	0					g.chr20:62178609G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.208C>A	chr20.hg19:g.62178609G>T	ENSP00000217188:p.Leu70Met	0						p.L70M	NM_080823.2	NP_543013.1	1	2	3	1.995265	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)	1	248	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)			Missense_Mutation	SNP	ENST00000217188.1	1	1	hg19	c.208C>A	CCDS13525.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634775	0.47049	.	.	ENSG00000125508	ENST00000217188	T	0.70045	-0.45	4.09	2.04	0.26737	4.09	2.04	0.26737	Src homology-3 domain (3);	0.000000	0.42053	D	0.000765	D	0.82287	0.5004	M	0.89840	3.065	0.36135	D	0.846384	D	0.89917	1.0	D	0.97110	1.0	D	0.86246	0.1646	10	0.87932	D	0	.	10.1426	0.42744	0.1726:0.0:0.8274:0.0	.	70	Q9H3Y6	SRMS_HUMAN	M	70	ENSP00000217188:L70M	ENSP00000217188:L70M	L	-	1	2	2	SRMS	61649053	61649053	1.000000	0.71417	0.918000	0.36340	0.103000	0.19146	4.716000	0.61916	0.678000	0.31325	0.491000	0.48974	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-16.150580	1	0.170000	NM_080823			22	21		80	77	0		1			0	0	26	0		9.999993e-01	0	0	0	0	0	0	22	80
C20orf195	79025	broad.mit.edu	37	20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647																																						ENST00000370098.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(559-561)Cgc>Tgc		chromosome 20 open reading frame 195							72.0	72.0	72.0					20																	62187575		2203	4300	6503	SO:0001583	missense	79025	0	0					g.chr20:62187575C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.559C>T	chr20.hg19:g.62187575C>T	ENSP00000359116:p.Arg187Cys	0					C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	p.R187C	NM_024059.2	NP_076964.1	1	2	3	1.995265	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)	2	651	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)			Missense_Mutation	SNP	ENST00000370098.3	1	1	hg19	c.559C>T	CCDS13526.1	1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539105	0.45176	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000046	T	0.65678	0.2714	L	0.29908	0.895	0.46586	D	0.999115	D	0.89917	1.0	D	0.71414	0.973	T	0.68842	-0.5302	9	0.87932	D	0	-28.6082	15.6531	0.77112	0.1377:0.8623:0.0:0.0	.	187	Q9BVV2	CT195_HUMAN	C	187	.	ENSP00000359115:R187C	R	+	1	0	0	C20orf195	61658019	61658019	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.253000	0.43205	2.573000	0.86826	0.655000	0.94253	CGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-2.753582	1	0.170000	NM_024059			139	139		577	577	1		1	1		0	0	137	0		1	1.735836e-01	0	2	0	2	0	139	577
C20orf195	79025	broad.mit.edu	37	20	62187886	62187886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	290	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622																																						ENST00000370098.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999476	0.990000	1.000000																										0				7						c.(868-870)acG>acA		chromosome 20 open reading frame 195							86.0	94.0	91.0					20																	62187886		2203	4300	6503	SO:0001819	synonymous_variant	79025	3	121410	35				g.chr20:62187886G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.870G>A	chr20.hg19:g.62187886G>A		0					C20orf195_ENST00000370097.1_Silent_p.T290T	p.T290T	NM_024059.2	NP_076964.1	1	2	3	1.995265	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)	2	962	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)			Silent	SNP	ENST00000370098.3	1	1	hg19	c.870G>A	CCDS13526.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	1	0	1		2	2	2	0		0	0	143		143	139	1	2.060000	-20.000000	1	0.170000	NM_024059			100	100		856	848	1		1	0		0	0	143	0		1	5.793444e-02	0	1	0	3	0	100	856
RTEL1	51750	broad.mit.edu	37	20	62321794	62321794	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000360203.5	+	26	2738	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGGTCCTCAGGTGCGGACGG	0.701																																						ENST00000360203.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2413-2415)Ggg>Agg		regulator of telomere elongation helicase 1							31.0	31.0	31.0					20																	62321794		2192	4279	6471	SO:0001630	splice_region_variant	51750	0	0					g.chr20:62321794G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2413+1G>A	chr20.hg19:g.62321794G>A		0					RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R|RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R	p.G805R			1	2	3	1.995265			Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)	26	2738	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)			Splice_Site	SNP	ENST00000360203.5	1	0	hg19	c.2413G>A		1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078151	0.76528	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.712591	0.13416	N	0.389486	T	0.28797	0.0714	M	0.64997	1.995	0.37882	D	0.930427	D;D;P;D	0.89917	0.991;1.0;0.935;0.99	P;D;P;P	0.97110	0.845;1.0;0.67;0.828	T	0.03807	-1.1002	10	0.23302	T	0.38	-20.4953	13.999	0.64421	0.0:0.0:1.0:0.0	.	829;50;805;805	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	805;805;829;805;198;50	ENSP00000359035:G805R;ENSP00000322287:G805R;ENSP00000424307:G829R;ENSP00000353332:G805R;ENSP00000388063:G198R;ENSP00000359020:G50R	ENSP00000353332:G805R	G	+	1	0	0	AL353715.1	61792238	61792238	0.999000	0.42202	0.490000	0.27465	0.399000	0.30720	4.479000	0.60236	2.144000	0.66660	0.563000	0.77884	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_032957	Missense_Mutation		39	39		172	171	0		1	1		0	0	25	0		1	9.998629e-01	0	11	0	52	0	39	172
SLC2A4RG	56731	broad.mit.edu	37	20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	129					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)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCCTTCAGCCCAGGTAAG	0.627																																						ENST00000266077.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999676	0.990000	1.000000																										0				7						c.(385-387)aGc>aAc		SLC2A4 regulator							37.0	38.0	38.0					20																	62372827		2200	4300	6500	SO:0001583	missense	56731	0	0					g.chr20:62372827G>A	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.386G>A	chr20.hg19:g.62372827G>A	ENSP00000266077:p.Ser129Asn	0					SLC2A4RG_ENST00000493772.1_3'UTR	p.S129N	NM_020062.3	NP_064446.2	1	2	3	1.995265	Q9NR83	S2A4R_HUMAN		3	438	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	1	1	hg19	c.386G>A	CCDS13537.1	1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891685	0.17613	.	.	ENSG00000125520	ENST00000266077	T	0.33438	1.41	4.08	3.07	0.35406	4.08	3.07	0.35406	.	0.211659	0.23160	U	0.051245	T	0.26376	0.0644	L	0.55481	1.735	0.09310	N	1	P	0.50528	0.936	B	0.42030	0.373	T	0.14200	-1.0481	10	0.40728	T	0.16	.	7.8892	0.29667	0.0:0.294:0.5475:0.1585	.	129	Q9NR83	S2A4R_HUMAN	N	129	ENSP00000266077:S129N	ENSP00000266077:S129N	S	+	2	0	0	SLC2A4RG	61843271	61843271	0.288000	0.24324	0.194000	0.23346	0.096000	0.18686	1.799000	0.38824	1.847000	0.53656	0.491000	0.48974	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_020062			29	28		182	181	1		1	1		0	0	33	0		1	9.999999e-01	0	47	0	132	0	29	182
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000302995.2_Silent_p.A385A|ZBTB46_ENST00000395104.1_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					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.A385A(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)					CCAGCACGTCGGCCTTCAGCG	0.677											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245663.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A385A(1)	lung(1)	24						c.(1153-1155)gcC>gcT		zinc finger and BTB domain containing 46							52.0	55.0	54.0					20																	62407098		2203	4300	6503	SO:0001819	synonymous_variant	140685	2	121404	36				g.chr20:62407098G>A	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.1155C>T	chr20.hg19:g.62407098G>A		0		OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	ZBTB46_ENST00000395104.1_Silent_p.A385A|ZBTB46_ENST00000302995.2_Silent_p.A385A	p.A385A	NM_025224.3	NP_079500.2	1	2	3	1.995265	Q86UZ6	ZBT46_HUMAN		3	1305	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	1	1	hg19	c.1155C>T	CCDS13538.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	1	0	1		2	2	2	0		0	0	82		82	77	1	2.060000	-20.000000	1	0.170000	NM_025224			99	97		400	392	1		1	0		0	0	82	0		1	9.695931e-01	0	1	0	24	0	99	400
ZBTB46	140685	broad.mit.edu	37	20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	273					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)			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)					TTTGTTTTTCCGATTCTTCCT	0.627																																						ENST00000245663.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(817-819)cGg>cAg		zinc finger and BTB domain containing 46							82.0	78.0	79.0					20																	62421293		2203	4300	6503	SO:0001583	missense	140685	0	0					g.chr20:62421293C>T	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.818G>A	chr20.hg19:g.62421293C>T	ENSP00000245663:p.Arg273Gln	0					ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000480766.1_5'Flank	p.R273Q	NM_025224.3	NP_079500.2	1	2	3	1.995265	Q86UZ6	ZBT46_HUMAN		2	968	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	1	1	hg19	c.818G>A	CCDS13538.1	1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461000	0.63513	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12774	2.65;2.65;2.65	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.63843	1.955	0.47123	D	0.999327	D	0.57899	0.981	P	0.46275	0.51	T	0.04870	-1.0921	10	0.11794	T	0.64	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	273	Q86UZ6	ZBT46_HUMAN	Q	273	ENSP00000245663:R273Q;ENSP00000303102:R273Q;ENSP00000378536:R273Q	ENSP00000245663:R273Q	R	-	2	0	0	ZBTB46	61891737	61891737	0.997000	0.39634	0.966000	0.40874	0.785000	0.44390	5.613000	0.67688	2.749000	0.94314	0.655000	0.94253	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-2.929391	1	0.170000	NM_025224			106	103		435	429	1		1	1		0	0	77	0		1	9.946513e-01	0	3	0	32	0	106	435
TPD52L2	7165	broad.mit.edu	37	20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000346249.4	+	5	531	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S152N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	152					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552																																						ENST00000346249.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				8						c.(454-456)aGc>aAc		tumor protein D52-like 2							97.0	73.0	81.0					20																	62514152		2203	4300	6503	SO:0001583	missense	7165	0	0					g.chr20:62514152G>A	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.455G>A	chr20.hg19:g.62514152G>A	ENSP00000343547:p.Ser152Asn	0					TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S152N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N	p.S152N	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	1	2	3	1.995265	O43399	TPD54_HUMAN		5	531	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	1	1	hg19	c.455G>A	CCDS13540.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242139	0.79912	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.147707	0.64402	D	0.000017	T	0.49201	0.1543	M	0.82193	2.58	0.40483	D	0.980467	P;P;B;D;B;P;P;B;B	0.53885	0.464;0.661;0.433;0.963;0.433;0.454;0.765;0.254;0.433	P;P;P;P;P;B;B;B;P	0.58780	0.579;0.456;0.561;0.845;0.561;0.357;0.357;0.375;0.456	T	0.56792	-0.7920	10	0.72032	D	0.01	-20.0996	13.3671	0.60692	0.0:0.1579:0.8421:0.0	.	109;103;152;132;152;132;132;152;152	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	N	109;152;132;152;132;152;132	ENSP00000358943:S109N;ENSP00000343547:S152N;ENSP00000343554:S132N;ENSP00000344647:S152N;ENSP00000340006:S132N;ENSP00000217121:S152N;ENSP00000351350:S132N	ENSP00000217121:S152N	S	+	2	0	0	TPD52L2	61984596	61984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.296000	0.72751	2.401000	0.81631	0.561000	0.74099	AGC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				36	35		178	175	1		1	1		0	0	37	0		1	1	0	123	0	328	0	36	178
DNAJC5	80331	broad.mit.edu	37	20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAACGCGCACGCCATCCTCAC	0.547																																						ENST00000360864.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(193-195)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							158.0	120.0	133.0					20																	62560750		2203	4300	6503	SO:0001583	missense	80331	6	121410	41				g.chr20:62560750G>A		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.193G>A	chr20.hg19:g.62560750G>A	ENSP00000354111:p.Ala65Thr	0					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	p.A65T	NM_025219.2	NP_079495.1	1	2	3	1.995265	Q9H3Z4	DNJC5_HUMAN		3	346	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	1	1	hg19	c.193G>A	CCDS13546.1	1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196237	0.58126	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.30182	1.54;1.54	5.4	4.45	0.53987	5.4	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.102238	0.64402	N	0.000002	T	0.19087	0.0458	N	0.16016	0.355	0.53688	D	0.999977	B;B	0.18310	0.024;0.027	B;B	0.16289	0.013;0.015	T	0.03910	-1.0993	10	0.23891	T	0.37	.	14.429	0.67236	0.0717:0.0:0.9283:0.0	.	65;65	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	65	ENSP00000358927:A65T;ENSP00000354111:A65T	ENSP00000354111:A65T	A	+	1	0	0	DNAJC5	62031194	62031194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.517000	0.53443	1.419000	0.47118	0.650000	0.86243	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	1	0	0		17	11	2	1		1	1	79		79	76	1	2.060000	-20.000000	1	0.170000	NM_025219			87	85		320	305	1		1	1		1	0	79	0		1	1	0	53	0	159	0	87	320
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	70	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557																																						ENST00000360864.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(208-210)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							159.0	123.0	135.0					20																	62560765		2203	4300	6503	SO:0001583	missense	80331	1	121410	30				g.chr20:62560765G>A		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.208G>A	chr20.hg19:g.62560765G>A	ENSP00000354111:p.Ala70Thr	0					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	p.A70T	NM_025219.2	NP_079495.1	1	2	3	1.995265	Q9H3Z4	DNJC5_HUMAN		3	361	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	1	1	hg19	c.208G>A	CCDS13546.1	1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974454	0.53720	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.29917	1.55;1.55	5.4	4.44	0.53790	5.4	4.44	0.53790	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.051899	0.85682	D	0.000000	T	0.21590	0.0520	N	0.17278	0.47	0.37425	D	0.913797	B;B	0.19583	0.014;0.037	B;B	0.13407	0.005;0.009	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.0043	0.80349	0.0:0.0:0.8645:0.1355	.	70;70	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	70	ENSP00000358927:A70T;ENSP00000354111:A70T	ENSP00000354111:A70T	A	+	1	0	0	DNAJC5	62031209	62031209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.409000	0.46915	0.650000	0.86243	GCC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	1	0	0		2	2	2	0		0	0	92		92	83	1	2.060000	-3.131874	1	0.170000	NM_025219			87	82		401	377	1		1	1		0	0	92	0		1	1	0	60	0	138	0	87	401
ZNF512B	57473	broad.mit.edu	37	20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)					TACTTCCCTGCCAGGTGGGCC	0.592																																						ENST00000450537.1	1.000000	0.620000	1	7.700000e-01	0.940000	0.904666	0.940000	1.000000																										0				33						c.(2341-2343)Gca>Aca		zinc finger protein 512B							89.0	79.0	83.0					20																	62592748		2202	4300	6502	SO:0001583	missense	57473	0	0					g.chr20:62592748C>T	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.2341G>A	chr20.hg19:g.62592748C>T	ENSP00000393795:p.Ala781Thr	0					ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T	p.A781T			1	2	3	1.995265	Q96KM6	Z512B_HUMAN		16	2401	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	1	1	hg19	c.2341G>A	CCDS13548.1	1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460950	0.26248	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.252101	0.34314	N	0.004076	T	0.18759	0.0450	N	0.17082	0.46	0.23559	N	0.997415	B	0.33777	0.425	B	0.32465	0.146	T	0.12016	-1.0564	10	0.28530	T	0.3	-10.0442	18.7906	0.91973	0.0:1.0:0.0:0.0	.	781	Q96KM6	Z512B_HUMAN	T	781	ENSP00000358904:A781T;ENSP00000393795:A781T;ENSP00000217130:A781T	ENSP00000217130:A781T	A	-	1	0	0	ZNF512B	62063192	62063192	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.092000	0.50207	2.448000	0.82819	0.591000	0.81541	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.318796	1	0.170000	NM_020713			25	25		292	289	0		1	1		0	0	68	0		9.999999e-01	8.316879e-01	0	2	0	38	0	25	292
ZNF512B	57473	broad.mit.edu	37	20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y|ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					TTGGCACTGTGCTCGGCCATA	0.622																																						ENST00000450537.1	1.000000	0.570000	1	7.000000e-01	0.840000	0.842877	0.840000	1.000000																										0				33						c.(1687-1689)Cac>Tac		zinc finger protein 512B							101.0	94.0	96.0					20																	62594982		2202	4300	6502	SO:0001583	missense	57473	0	0					g.chr20:62594982G>A	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.1687C>T	chr20.hg19:g.62594982G>A	ENSP00000393795:p.His563Tyr	0					ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y	p.H563Y			1	2	3	1.995265	Q96KM6	Z512B_HUMAN		10	1747	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	1	1	hg19	c.1687C>T	CCDS13548.1	0	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709041	0.68615	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.37915	1.17;1.17;1.17	4.42	4.42	0.53409	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.134765	0.49305	D	0.000155	T	0.56247	0.1972	M	0.62723	1.935	0.49051	D	0.999748	D	0.71674	0.998	D	0.83275	0.996	T	0.60692	-0.7213	10	0.87932	D	0	-15.5574	13.504	0.61474	0.0:0.1574:0.8426:0.0	.	563	Q96KM6	Z512B_HUMAN	Y	563	ENSP00000358904:H563Y;ENSP00000393795:H563Y;ENSP00000217130:H563Y	ENSP00000217130:H563Y	H	-	1	0	0	ZNF512B	62065426	62065426	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.971000	0.63749	2.004000	0.58718	0.411000	0.27672	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_020713			29	29		382	378	0		1	0		0	0	80	0		1	4.288211e-01	0	1	0	19	0	29	382
ZNF512B	57473	broad.mit.edu	37	20	62595140	62595140	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			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)			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)					GAGCTGCCTTACCTTCTGACA	0.637																																						ENST00000450537.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.e9+1		zinc finger protein 512B							85.0	84.0	84.0					20																	62595140		2203	4300	6503	SO:0001630	splice_region_variant	57473	0	0					g.chr20:62595140A>T	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.1605+1T>A	chr20.hg19:g.62595140A>T		0					ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site				1	2	3	1.995265	Q96KM6	Z512B_HUMAN		9	1666	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	1	1	hg19		CCDS13548.1	1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811542	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.38	4.38	0.52667	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8107	0.52181	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ZNF512B	62065584	62065584	1.000000	0.71417	0.982000	0.44146	0.877000	0.50540	6.611000	0.74183	1.611000	0.50210	0.383000	0.25322	.	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	0	0	1		20	2	2	1		1	1	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_020713	Intron		156	154		651	638	1		1			1	0	136	0		1	0	0	0	0	0	0	156	651
ZNF512B	57473	broad.mit.edu	37	20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					CAGCACCATTTTGCAGGGCGG	0.592																																						ENST00000450537.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(964-966)aAa>aCa		zinc finger protein 512B							112.0	100.0	104.0					20																	62597563		2203	4300	6503	SO:0001583	missense	57473	0	0					g.chr20:62597563T>G	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.965A>C	chr20.hg19:g.62597563T>G	ENSP00000393795:p.Lys322Thr	0					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T	p.K322T			1	2	3	1.995265	Q96KM6	Z512B_HUMAN		5	1025	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	1	1	hg19	c.965A>C	CCDS13548.1	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034312	0.75617	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.397373	0.24054	N	0.041980	T	0.42539	0.1207	L	0.50333	1.59	0.36736	D	0.881961	D	0.76494	0.999	D	0.66716	0.946	T	0.49418	-0.8942	10	0.52906	T	0.07	-18.8106	12.063	0.53572	0.0:0.0:0.0:1.0	.	322	Q96KM6	Z512B_HUMAN	T	322	ENSP00000358904:K322T;ENSP00000393795:K322T;ENSP00000217130:K322T	ENSP00000217130:K322T	K	-	2	0	0	ZNF512B	62068007	62068007	0.929000	0.31497	0.964000	0.40570	0.984000	0.73092	0.328000	0.19681	2.104000	0.64026	0.477000	0.44152	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1		2	2	2	0		0	0	110		110	106	1	2.060000	-20.000000	1	0.170000	NM_020713			89	85		444	429	1		1	1		0	0	110	0		1	9.929530e-01	0	5	0	35	0	89	444
ZNF512B	57473	broad.mit.edu	37	20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					TCCCTTACCCCTTGGCACCGC	0.622																																						ENST00000450537.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(391-393)Ggg>Tgg		zinc finger protein 512B							97.0	86.0	90.0					20																	62598231		2203	4300	6503	SO:0001583	missense	57473	0	0					g.chr20:62598231C>A	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.391G>T	chr20.hg19:g.62598231C>A	ENSP00000393795:p.Gly131Trp	0					ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W	p.G131W			1	2	3	1.995265	Q96KM6	Z512B_HUMAN		4	451	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	1	1	hg19	c.391G>T	CCDS13548.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679002	0.88542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.29908	0.895	0.47698	D	0.999499	D	0.89917	1.0	D	0.97110	1.0	T	0.45991	-0.9223	10	0.87932	D	0	-37.8379	17.032	0.86463	0.0:1.0:0.0:0.0	.	131	Q96KM6	Z512B_HUMAN	W	131	ENSP00000358904:G131W;ENSP00000393795:G131W;ENSP00000217130:G131W	ENSP00000217130:G131W	G	-	1	0	0	ZNF512B	62068675	62068675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.167000	0.77562	2.451000	0.82905	0.585000	0.79938	GGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.176870	1	0.170000	NM_020713			44	44		224	220	1		1	1		0	0	66	0		1	9.910309e-01	0	6	0	34	0	44	224
TCEA2	6919	broad.mit.edu	37	20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000343484.5	+	7	785	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.R179W|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	206	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				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)			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)					TGACCTGCGGCGGAATGTGCT	0.582																																						ENST00000343484.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(616-618)Cgg>Tgg		transcription elongation factor A (SII), 2							121.0	100.0	107.0					20																	62701711		2203	4300	6503	SO:0001583	missense	6919	1	121412	31				g.chr20:62701711C>T	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.616C>T	chr20.hg19:g.62701711C>T	ENSP00000343515:p.Arg206Trp	0					TCEA2_ENST00000361317.2_Missense_Mutation_p.R179W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	p.R206W	NM_003195.4	NP_003186.1	1	2	3	1.995265	Q15560	TCEA2_HUMAN		7	785	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	1	1	hg19	c.616C>T	CCDS13553.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104062	0.56291	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.97	-0.0952	0.13642	3.97	-0.0952	0.13642	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.230417	0.37219	N	0.002183	T	0.63177	0.2489	M	0.90542	3.125	0.37110	D	0.900287	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.968;0.968;0.997	T	0.66304	-0.5957	10	0.87932	D	0	-1.4833	6.2334	0.20750	0.6126:0.2791:0.0:0.1083	.	206;206;179	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	W	179;206;179;179;179	ENSP00000354552:R179W;ENSP00000343515:R206W;ENSP00000339432:R179W;ENSP00000407085:R179W;ENSP00000416026:R179W	ENSP00000339432:R179W	R	+	1	2	2	TCEA2	62172155	62172155	0.005000	0.15991	0.044000	0.18714	0.782000	0.44232	0.247000	0.18179	0.248000	0.21435	0.561000	0.74099	CGG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_198723			74	72		305	299	1		1	1		0	0	96	0		1	9.999998e-01	0	20	0	75	0	74	305
RGS19	10287	broad.mit.edu	37	20	62705215	62705215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000332298.5_Silent_p.S215S|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	215	Interaction with GIPC.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTAGGCCTCGGAGGAGGACT	0.662																																						ENST00000395042.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				3						c.(643-645)tcC>tcT		regulator of G-protein signaling 19							66.0	60.0	62.0					20																	62705215		2203	4300	6503	SO:0001819	synonymous_variant	10287	0	0					g.chr20:62705215G>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.645C>T	chr20.hg19:g.62705215G>A		0					RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S215S	p.S215S	NM_005873.2	NP_005864.1	1	2	3	1.995265	P49795	RGS19_HUMAN		6	911	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	1	1	hg19	c.645C>T	CCDS13555.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-2.971077	1	0.170000	NM_005873			50	48		284	280	1		1	1		0	0	63	0		1	9.997028e-01	0	15	0	56	0	50	284
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A	rs370731911		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20241	0.001		0.0	False		,,,				2504	0.0					ENST00000395042.1	1.000000	0.190000	5.700000e-01	2.800000e-01	0.400000	0.442589	0.400000	0.370000																										0				3						c.(337-339)agC>agT		regulator of G-protein signaling 19		G	,	0,4406		0,0,2203	85.0	69.0	74.0		339,339	1.6	1.0	20		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/218,113/218	62705620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10287	6	121410	38				g.chr20:62705620G>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.339C>T	chr20.hg19:g.62705620G>A		0					RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S113S	p.S113S	NM_005873.2	NP_005864.1	1	2	3	1.995265	P49795	RGS19_HUMAN		5	605	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	1	1	hg19	c.339C>T	CCDS13555.1	0																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	0	0	0		2	2	2	0		0	0	54		54	52	1	2.060000	-9.960912	1	0.170000	NM_005873			9	8		269	265	0		1	1		0	0	54	0		9.939435e-01	8.442791e-01	0	8	0	95	0	9	269
MYT1	4661	broad.mit.edu	37	20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000328439.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000360149.4_Missense_Mutation_p.K100N|MYT1_ENST00000536311.1_Missense_Mutation_p.K100N	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)			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)					CTGAGGTGAAGGACGCCTCTG	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.830000	1	9.900000e-01	0.990000	0.987550	0.990000	1.000000																										0				55						c.(298-300)aaG>aaT		myelin transcription factor 1							81.0	71.0	74.0					20																	62837056		2203	4300	6503	SO:0001583	missense	4661	0	0					g.chr20:62837056G>T	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.300G>T	chr20.hg19:g.62837056G>T	ENSP00000327465:p.Lys100Asn	0					MYT1_ENST00000536311.1_Missense_Mutation_p.K100N|MYT1_ENST00000360149.4_Missense_Mutation_p.K100N	p.K100N	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		6	664	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.300G>T	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153901	0.57259	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50548	0.74;1.57;1.57	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.252000	0.41194	D	0.000928	T	0.60051	0.2239	M	0.66939	2.045	0.24673	N	0.993402	D;D	0.59357	0.958;0.985	P;P	0.55508	0.558;0.777	T	0.58306	-0.7659	10	0.59425	D	0.04	-41.3035	13.5078	0.61493	0.0756:0.0:0.9244:0.0	.	100;100	Q01538;Q6P6D5	MYT1_HUMAN;.	N	100	ENSP00000353269:K100N;ENSP00000327465:K100N;ENSP00000442412:K100N	ENSP00000327465:K100N	K	+	3	2	2	MYT1	62307500	62307500	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.868000	0.48436	2.642000	0.89623	0.655000	0.94253	AAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_004535			25	24		214	212	0		1			0	0	38	0		9.999999e-01	0	0	0	0	0	0	25	214
MYT1	4661	broad.mit.edu	37	20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000328439.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.V137A	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)			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)					AGGAGCCCCGTCAAGTCCCAT	0.582																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(409-411)gTc>gCc		myelin transcription factor 1							81.0	89.0	86.0					20																	62838959		2203	4300	6503	SO:0001583	missense	4661	0	0					g.chr20:62838959T>C	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.410T>C	chr20.hg19:g.62838959T>C	ENSP00000327465:p.Val137Ala	0					MYT1_ENST00000536311.1_Missense_Mutation_p.V137A|MYT1_ENST00000360149.4_Intron	p.V137A	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		7	774	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.410T>C	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	t	6.751	0.507434	0.12883	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.36699	1.24;1.24	4.29	-0.302	0.12796	4.29	-0.302	0.12796	.	2.154190	0.02314	N	0.072344	T	0.18467	0.0443	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.08381	T	0.77	-2.8656	3.0817	0.06265	0.2218:0.4444:0.0:0.3339	.	137	Q01538	MYT1_HUMAN	A	137	ENSP00000327465:V137A;ENSP00000442412:V137A	ENSP00000327465:V137A	V	+	2	0	0	MYT1	62309403	62309403	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.105000	0.15333	0.184000	0.20083	0.373000	0.22412	GTC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	164		164	161	1	2.060000	-20.000000	1	0.170000	NM_004535			129	126		553	542	1		1			0	0	164	0		1	0	0	0	0	0	0	129	553
MYT1	4661	broad.mit.edu	37	20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000328439.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E177D	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)			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)					TTGCTGAAGAGACCCTGGTGG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.130000	4.100000e-01	2.000000e-01	0.280000	0.328833	0.280000	0.270000																										0				55						c.(529-531)gaG>gaT		myelin transcription factor 1							66.0	65.0	65.0					20																	62839080		2203	4300	6503	SO:0001583	missense	4661	0	0					g.chr20:62839080G>T	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.531G>T	chr20.hg19:g.62839080G>T	ENSP00000327465:p.Glu177Asp	0					MYT1_ENST00000536311.1_Missense_Mutation_p.E177D|MYT1_ENST00000360149.4_Intron	p.E177D	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		7	895	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.531G>T	CCDS13558.1	0	.	.	.	.	.	.	.	.	.	.	g	9.517	1.107190	0.20714	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.85;0.84	4.72	3.65	0.41850	4.72	3.65	0.41850	.	0.186992	0.41396	D	0.000894	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23583	-1.0184	10	0.02654	T	1	-17.0321	3.1077	0.06347	0.4368:0.0:0.5632:0.0	.	177	Q01538	MYT1_HUMAN	D	177	ENSP00000327465:E177D;ENSP00000442412:E177D	ENSP00000327465:E177D	E	+	3	2	2	MYT1	62309524	62309524	1.000000	0.71417	0.158000	0.22627	0.219000	0.24729	0.842000	0.27627	2.188000	0.69820	0.552000	0.68991	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-8.956676	1	0.170000	NM_004535			9	8		384	378	0		1			0	0	80	0		9.938587e-01	0	0	0	0	0	0	9	384
MYT1	4661	broad.mit.edu	37	20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000328439.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.L255P	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)			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)					AAAGGCATCCTGAGTCACgaa	0.597																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.997197	0.990000	1.000000																										0				55						c.(763-765)cTg>cCg		myelin transcription factor 1							27.0	27.0	27.0					20																	62839313		2203	4300	6503	SO:0001583	missense	4661	0	0					g.chr20:62839313T>C	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.764T>C	chr20.hg19:g.62839313T>C	ENSP00000327465:p.Leu255Pro	0					MYT1_ENST00000536311.1_Missense_Mutation_p.L255P|MYT1_ENST00000360149.4_Intron	p.L255P	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		7	1128	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	0	1	hg19	c.764T>C	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	t	9.258	1.042377	0.19748	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.72615	-0.67;-0.67	4.05	-0.0937	0.13648	4.05	-0.0937	0.13648	.	0.882556	0.09404	N	0.806797	T	0.54431	0.1858	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.37606	T	0.19	-0.0125	0.3961	0.00418	0.2218:0.1385:0.2294:0.4103	.	255	Q01538	MYT1_HUMAN	P	255	ENSP00000327465:L255P;ENSP00000442412:L255P	ENSP00000327465:L255P	L	+	2	0	0	MYT1	62309757	62309757	0.015000	0.18098	0.004000	0.12327	0.952000	0.60782	0.501000	0.22578	0.427000	0.26145	0.451000	0.29950	CTG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999990	1	0.170000	NM_004535			15	13		91	88	1		1			0	0	15	0		9.998742e-01	0	0	0	0	0	0	15	91
MYT1	4661	broad.mit.edu	37	20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000328439.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000360149.4_Missense_Mutation_p.H206R|MYT1_ENST00000536311.1_Missense_Mutation_p.H504R	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)			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)					CGCAACACGCACAGAAGGTAC	0.667																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1510-1512)cAc>cGc		myelin transcription factor 1							103.0	98.0	99.0					20																	62843485		2203	4300	6503	SO:0001583	missense	4661	0	0					g.chr20:62843485A>G	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.1511A>G	chr20.hg19:g.62843485A>G	ENSP00000327465:p.His504Arg	0					MYT1_ENST00000536311.1_Missense_Mutation_p.H504R|MYT1_ENST00000360149.4_Missense_Mutation_p.H206R	p.H504R	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		9	1875	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.1511A>G	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842425	0.51057	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.26;0.14;1.66	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.997	D	0.85237	0.1036	10	0.87932	D	0	-25.2467	14.0537	0.64754	1.0:0.0:0.0:0.0	.	504;504;206	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	206;504;504	ENSP00000353269:H206R;ENSP00000327465:H504R;ENSP00000442412:H504R	ENSP00000327465:H504R	H	+	2	0	0	MYT1	62313929	62313929	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	9.204000	0.95041	1.777000	0.52277	0.455000	0.32223	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	0	0		2	2	2	1		1	0	130		130	0	1	2.060000	-20.000000	1	0.170000	NM_004535			135	0		533	0	0					1	0	130	0		0	0	0	0	0	0	0	135	533
MYT1	4661	broad.mit.edu	37	20	62848447	62848447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000328439.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000360149.4_Silent_p.E255E|MYT1_ENST00000536311.1_Silent_p.E553E	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)			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)					AGCAGCTCGAGGTCCCTCCAT	0.632																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1657-1659)gaG>gaA		myelin transcription factor 1							83.0	76.0	79.0					20																	62848447		2203	4300	6503	SO:0001819	synonymous_variant	4661	0	0					g.chr20:62848447G>A	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.1659G>A	chr20.hg19:g.62848447G>A		0					MYT1_ENST00000536311.1_Silent_p.E553E|MYT1_ENST00000360149.4_Silent_p.E255E	p.E553E	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		11	2023	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	1	1	hg19	c.1659G>A	CCDS13558.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_004535			94	93		477	469	0		1	0		0	0	91	0		1	0	0	0	0	1	0	94	477
MYT1	4661	broad.mit.edu	37	20	62850260	62850260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62850260G>A	ENST00000536311.1	+	12	2288	c.1924G>A	c.(1924-1926)Gca>Aca	p.A642T	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000360149.4_Intron			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)			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)					ATCCTCTTCTGCAGGCTTTGA	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1924-1926)Gca>Aca		myelin transcription factor 1							87.0	86.0	86.0					20																	62850260		2203	4299	6502	SO:0001583	missense	4661	0	0					g.chr20:62850260G>A	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	ENST00000536311.1:c.1924G>A	chr20.hg19:g.62850260G>A	ENSP00000442412:p.Ala642Thr	0					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Intron	p.A642T			1	2	3	1.995265	Q99640	PMYT1_HUMAN		12	2288	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000536311.1	1	1	hg19	c.1924G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908347	0.33721	.	.	ENSG00000196132	ENST00000536311	T	0.49432	0.78	5.49	0.994	0.19832	5.49	0.994	0.19832	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	8	0.48119	T	0.1	.	5.192	0.15214	0.5279:0.0:0.3304:0.1418	.	642	F5H7M8	.	T	642	ENSP00000442412:A642T	ENSP00000442412:A642T	A	+	1	0	0	MYT1	62320704	62320704	0.001000	0.12720	0.695000	0.30226	0.942000	0.58702	-0.054000	0.11826	0.008000	0.14787	0.655000	0.94253	GCA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MYT1-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	140		140	139	1	2.060000	-20.000000	1	0.170000	NM_004535			126	124		488	475	1		1			0	0	140	0		1	0	0	0	0	0	0	126	488
MYT1	4661	broad.mit.edu	37	20	62859375	62859375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62859375C>T	ENST00000360149.4	+	16	1981	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000536311.1_Intron			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)			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)					TTGAGATTTTCGTGTGTTTTA	0.438																																					GBM(59;481 1041 20555 21139 33705)	ENST00000360149.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				55						c.(1762-1764)tCg>tTg		myelin transcription factor 1							41.0	43.0	42.0					20																	62859375		2202	4300	6502	SO:0001583	missense	4661	3	121268	27				g.chr20:62859375C>T	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	ENST00000360149.4:c.1763C>T	chr20.hg19:g.62859375C>T	ENSP00000353269:p.Ser588Leu	0					MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron	p.S588L			1	2	3	1.995265	Q99640	PMYT1_HUMAN		16	1981	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000360149.4	1	1	hg19	c.1763C>T		1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094669	0.36952	.	.	ENSG00000196132	ENST00000360149	T	0.44881	0.91	3.77	1.77	0.24775	3.77	1.77	0.24775	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	7	.	.	.	.	5.8585	0.18732	0.0:0.5511:0.0:0.4489	.	588	Q6P6D5	.	L	588	ENSP00000353269:S588L	.	S	+	2	0	0	MYT1	62329819	62329819	0.001000	0.12720	0.001000	0.08648	0.209000	0.24338	0.290000	0.18975	0.382000	0.24878	0.650000	0.86243	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYT1-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_004535			21	21		86	85	0		1			0	0	31	0		9.999988e-01	0	0	0	0	0	0	21	86
MYT1	4661	broad.mit.edu	37	20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000328439.1	+	19	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	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)			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)					TTTCCTCACCCACCGGAGGTA	0.647																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2890-2892)Cac>Tac		myelin transcription factor 1							34.0	37.0	36.0					20																	62863731		2202	4295	6497	SO:0001583	missense	4661	0	0					g.chr20:62863731C>T	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.2890C>T	chr20.hg19:g.62863731C>T	ENSP00000327465:p.His964Tyr	0					MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	p.H964Y	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		19	3254	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.2890C>T	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60171	0.26;0.21	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.85943	0.1459	10	0.87932	D	0	-21.1337	17.4785	0.87667	0.0:1.0:0.0:0.0	.	991;964	F5H7M8;Q01538	.;MYT1_HUMAN	Y	964;991	ENSP00000327465:H964Y;ENSP00000442412:H991Y	ENSP00000327465:H964Y	H	+	1	0	0	MYT1	62334175	62334175	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.615000	0.83006	2.132000	0.65825	0.467000	0.42956	CAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.508034	1	0.170000	NM_004535			57	57		243	241	0		1			0	0	53	0		1	0	0	0	0	0	0	57	243
MYT1	4661	broad.mit.edu	37	20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000328439.1	+	21	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	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)			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)					GTCCAACTCGGAGATGGAGGC	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998826	0.990000	1.000000																										0				55						c.(3058-3060)Gag>Aag		myelin transcription factor 1							63.0	50.0	54.0					20																	62868708		2202	4296	6498	SO:0001583	missense	4661	0	0					g.chr20:62868708G>A	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.3058G>A	chr20.hg19:g.62868708G>A	ENSP00000327465:p.Glu1020Lys	0					MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	p.E1020K	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		21	3422	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.3058G>A	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247965	0.80024	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39397	1.21	0.80722	D	1	D;B	0.76494	0.999;0.22	D;B	0.80764	0.994;0.052	T	0.36261	-0.9755	10	0.06099	T	0.92	-26.8619	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1047;1020	F5H7M8;Q01538	.;MYT1_HUMAN	K	1020;1047	ENSP00000327465:E1020K;ENSP00000442412:E1047K	ENSP00000327465:E1020K	E	+	1	0	0	MYT1	62339152	62339152	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.520000	0.73773	2.686000	0.91538	0.561000	0.74099	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.996210	1	0.170000	NM_004535			12	12		54	54	1		1			0	0	15	0		9.994208e-01	0	0	0	0	0	0	12	54
MYT1	4661	broad.mit.edu	37	20	62871223	62871223	+	Silent	SNP	C	C	T	rs562780298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000328439.1	+	22	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_ENST00000536311.1_Silent_p.I1095I	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)			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)					AGGCCCTCATCCAAAGTCTCG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18740	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3202-3204)atC>atT		myelin transcription factor 1							111.0	115.0	114.0					20																	62871223		2203	4300	6503	SO:0001819	synonymous_variant	4661	3	121412	35				g.chr20:62871223C>T	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.3204C>T	chr20.hg19:g.62871223C>T		0					MYT1_ENST00000536311.1_Silent_p.I1095I	p.I1068I	NM_004535.2	NP_004526.1	1	2	3	1.995265	Q99640	PMYT1_HUMAN		22	3568	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	1	1	hg19	c.3204C>T	CCDS13558.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-20.000000	1	0.170000	NM_004535			128	127		642	636	1		1	0		0	0	160	0		1	0	0	0	0	1	0	128	642
PCMTD2	55251	broad.mit.edu	37	20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	106						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388																																						ENST00000308824.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(316-318)gGt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							135.0	114.0	121.0					20																	62895791		2203	4300	6503	SO:0001583	missense	55251	0	0					g.chr20:62895791G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.317G>A	chr20.hg19:g.62895791G>A	ENSP00000307854:p.Gly106Asp	0					PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	p.G106D	NM_018257.2	NP_060727.2	1	2	3	1.995265	Q9NV79	PCMD2_HUMAN		3	444	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	1	1	hg19	c.317G>A	CCDS13559.1	1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.439190	0.83885	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.53857	0.6;0.6;0.6	5.49	4.53	0.55603	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-32.6802	14.6817	0.69023	0.0711:0.0:0.9289:0.0	.	106;106	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	106	ENSP00000358773:G106D;ENSP00000299468:G106D;ENSP00000307854:G106D	ENSP00000299468:G106D	G	+	2	0	0	PCMTD2	62366235	62366235	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	8.896000	0.92521	2.589000	0.87451	0.655000	0.94253	GGT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-19.999920	1	0.170000	NM_018257			42	41		193	193	0		1	1		0	0	65	0		1	9.998838e-01	0	13	0	53	0	42	193
SCRT2	85508	broad.mit.edu	37	20	644759	644759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	160					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	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)			kidney(1)|liver(1)|ovary(1)	3						AGGTCTTGCCGCACTCGGCGC	0.791																																						ENST00000246104.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				3						c.(478-480)tgC>tgT		scratch family zinc finger 2							17.0	16.0	16.0					20																	644759		2195	4293	6488	SO:0001819	synonymous_variant	85508	0	0					g.chr20:644759G>A		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.480C>T	chr20.hg19:g.644759G>A		0					RP5-850E9.3_ENST00000488788.2_Intron	p.C160C	NM_033129.3	NP_149120.1	1	2	3	1.995265	Q9NQ03	SCRT2_HUMAN		2	1057	-				Silent	SNP	ENST00000246104.6	1	1	hg19	c.480C>T	CCDS13006.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.791	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_033129			29	29		126	124	0		1			0	0	32	0		1	0	0	0	0	0	0	29	126
RSPO4	343637	broad.mit.edu	37	20	944697	944697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	159	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632																																						ENST00000217260.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(475-477)tCg>tTg		R-spondin 4							19.0	23.0	21.0					20																	944697		1877	4061	5938	SO:0001583	missense	343637	0	0					g.chr20:944697G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.476C>T	chr20.hg19:g.944697G>A	ENSP00000217260:p.Ser159Leu	0					RSPO4_ENST00000400634.2_Intron	p.S159L	NM_001029871.3	NP_001025042.2	1	2	3	1.995265	Q2I0M5	RSPO4_HUMAN		4	572	-			A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	1	1	hg19	c.476C>T	CCDS42846.1	1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.450969	0.12223	.	.	ENSG00000101282	ENST00000217260	T	0.79352	-1.26	4.35	3.4	0.38934	4.35	3.4	0.38934	.	0.869683	0.09951	N	0.734660	T	0.65207	0.2669	L	0.39085	1.19	0.09310	N	0.999998	B	0.33022	0.394	B	0.28465	0.09	T	0.57785	-0.7751	10	0.59425	D	0.04	-14.9986	4.7996	0.13290	0.1985:0.1798:0.6217:0.0	.	159	Q2I0M5	RSPO4_HUMAN	L	159	ENSP00000217260:S159L	ENSP00000217260:S159L	S	-	2	0	0	RSPO4	892697	892697	0.414000	0.25408	0.156000	0.22583	0.047000	0.14425	0.871000	0.28023	0.969000	0.38237	0.298000	0.19748	TCG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	1	0	1		35	2	2	1		1	1	33		33	19	1	2.060000	-20.000000	1	0.170000	XM_297816			76	69		241	210	0		1			1	0	33	0		9.998949e-01	0	0	0	0	0	0	76	241
HAO1	54363	broad.mit.edu	37	20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	195	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)			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						TTTTCCTCAGGAGAAAATGAT	0.348																																						ENST00000378789.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(583-585)Cct>Tct		hydroxyacid oxidase (glycolate oxidase) 1							79.0	80.0	80.0					20																	7886939		2203	4300	6503	SO:0001583	missense	54363	0	0					g.chr20:7886939G>A	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.583C>T	chr20.hg19:g.7886939G>A	ENSP00000368066:p.Pro195Ser	0						p.P195S	NM_017545.2	NP_060015.1	1	2	3	1.995265	Q9UJM8	HAOX1_HUMAN		4	634	-			Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	1	1	hg19	c.583C>T	CCDS13100.1	1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734970	0.03111	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.54	3.37	0.38596	5.54	3.37	0.38596	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247105	0.42172	N	0.000751	T	0.13114	0.0318	N	0.17564	0.495	0.39356	D	0.965848	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10543	-1.0625	10	0.08599	T	0.76	21.5237	3.2671	0.06869	0.3628:0.2371:0.4001:0.0	.	195;195	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	195	ENSP00000368066:P195S	ENSP00000368066:P195S	P	-	1	0	0	HAO1	7834939	7834939	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.344000	0.44010	1.321000	0.45227	0.591000	0.81541	CCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.407021	1	0.170000				54	50		249	246	0		1			0	0	60	0		1	0	0	0	0	0	0	54	249
TMX4	56255	broad.mit.edu	37	20	7962940	7962940	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	336					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512																																						ENST00000246024.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1006-1008)tcC>tcA		thioredoxin-related transmembrane protein 4							89.0	81.0	83.0					20																	7962940		2203	4300	6503	SO:0001819	synonymous_variant	56255	0	0					g.chr20:7962940G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1008C>A	chr20.hg19:g.7962940G>T		0						p.S336S	NM_021156.2	NP_066979.2	1	2	3	1.995265	Q9H1E5	TMX4_HUMAN		8	1223	-			Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	1	1	hg19	c.1008C>A	CCDS13101.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.970824	1	0.170000	NM_021156			66	65		284	273	1		1	1		0	0	71	0		1	1	0	68	0	193	0	66	284
TMX4	56255	broad.mit.edu	37	20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	277	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502																																						ENST00000246024.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(829-831)Gag>Aag		thioredoxin-related transmembrane protein 4							153.0	116.0	128.0					20																	7963119		2203	4300	6503	SO:0001583	missense	56255	0	0					g.chr20:7963119C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.829G>A	chr20.hg19:g.7963119C>T	ENSP00000246024:p.Glu277Lys	0						p.E277K	NM_021156.2	NP_066979.2	1	2	3	1.995265	Q9H1E5	TMX4_HUMAN		8	1044	-			Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	1	1	hg19	c.829G>A	CCDS13101.1	1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092491	0.36952	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.249655	0.36101	N	0.002798	T	0.19287	0.0463	L	0.35288	1.05	0.38875	D	0.956772	D	0.55172	0.97	P	0.51833	0.681	T	0.00728	-1.1591	10	0.72032	D	0.01	-5.5676	14.8709	0.70456	0.0:1.0:0.0:0.0	.	277	Q9H1E5	TMX4_HUMAN	K	277	ENSP00000246024:E277K	ENSP00000246024:E277K	E	-	1	0	0	TMX4	7911119	7911119	0.583000	0.26757	0.955000	0.39395	0.461000	0.32589	4.085000	0.57657	2.653000	0.90120	0.557000	0.71058	GAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.401491	1	0.170000	NM_021156			56	55		259	248	1		1	1		0	0	54	0		1	1	0	64	0	225	0	56	259
TMX4	56255	broad.mit.edu	37	20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	242	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						cctcCGCATCCTGCAACTGTT	0.418																																						ENST00000246024.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(724-726)caG>caT		thioredoxin-related transmembrane protein 4							80.0	64.0	70.0					20																	7963222		2203	4300	6503	SO:0001583	missense	56255	0	0					g.chr20:7963222C>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.726G>T	chr20.hg19:g.7963222C>A	ENSP00000246024:p.Gln242His	0						p.Q242H	NM_021156.2	NP_066979.2	1	2	3	1.995265	Q9H1E5	TMX4_HUMAN		8	941	-			Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	1	1	hg19	c.726G>T	CCDS13101.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583302	0.46006	.	.	ENSG00000125827	ENST00000246024	T	0.11495	2.77	5.84	4.71	0.59529	5.84	4.71	0.59529	.	0.572613	0.17713	N	0.164518	T	0.12603	0.0306	M	0.63428	1.95	0.31062	N	0.71406	P	0.37864	0.61	B	0.34873	0.191	T	0.03545	-1.1026	10	0.49607	T	0.09	-3.9684	10.6879	0.45854	0.0:0.9007:0.0:0.0993	.	242	Q9H1E5	TMX4_HUMAN	H	242	ENSP00000246024:Q242H	ENSP00000246024:Q242H	Q	-	3	2	2	TMX4	7911222	7911222	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.100000	0.41777	2.763000	0.94921	0.557000	0.71058	CAG	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.432325	1	0.170000	NM_021156			44	43		179	178	1		1	1		0	0	45	0		1	1	0	36	0	236	0	44	179
PLCB1	23236	broad.mit.edu	37	20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000338037.6	+	1	108	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000378641.3_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	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)			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						AGGGCACCAAATTCGTCAAGT	0.682																																						ENST00000338037.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				95						c.(79-81)aaA>aaC		phospholipase C, beta 1 (phosphoinositide-specific)							42.0	35.0	37.0					20																	8113379		2203	4300	6503	SO:0001583	missense	23236	0	0					g.chr20:8113379A>C	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.81A>C	chr20.hg19:g.8113379A>C	ENSP00000338185:p.Lys27Asn	0					PLCB1_ENST00000378641.3_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	p.K27N	NM_015192.2	NP_056007.1	1	2	3	1.995265	Q9NQ66	PLCB1_HUMAN		1	108	+			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	1	1	hg19	c.81A>C	CCDS13102.1	1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312533	0.40895	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.42787	0.1218	L	0.55103	1.725	0.43896	D	0.996524	B;B;D	0.60575	0.0;0.003;0.988	B;B;P	0.50754	0.002;0.007;0.649	T	0.34925	-0.9809	10	0.36615	T	0.2	.	6.0285	0.19667	0.7487:0.166:0.0853:0.0	.	27;27;26	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	N	27;27;27;26	ENSP00000367908:K27N;ENSP00000338185:K27N;ENSP00000367904:K27N;ENSP00000384001:K26N	ENSP00000338185:K27N	K	+	3	2	2	PLCB1	8061379	8061379	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.199000	0.42715	1.929000	0.55896	0.460000	0.39030	AAA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				31	31		141	140	0		1	0		0	0	23	0		1	1.584570e-01	0	0	0	4	0	31	141
PLCB4	5332	broad.mit.edu	37	20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378493.1	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000378501.2_Missense_Mutation_p.N641S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	641	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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)			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						ATTTTCTGGAACGCTGGCTGC	0.468																																						ENST00000378493.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(1921-1923)aAc>aGc		phospholipase C, beta 4							65.0	54.0	58.0					20																	9389787		2203	4300	6503	SO:0001583	missense	5332	0	0					g.chr20:9389787A>G		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.1922A>G	chr20.hg19:g.9389787A>G	ENSP00000367754:p.Asn641Ser	0					PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378501.2_Missense_Mutation_p.N641S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S	p.N641S			1	2	3	1.995265	Q15147	PLCB4_HUMAN		20	1937	+			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	1	1	hg19	c.1922A>G	CCDS13105.1	1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750074	0.89753	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.92	5.92	0.95590	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.080904	0.85682	D	0.000000	T	0.76630	0.4014	L	0.45285	1.41	0.80722	D	1	D;B;D;D	0.65815	0.968;0.262;0.995;0.993	P;B;D;P	0.71870	0.693;0.086;0.975;0.841	T	0.78710	-0.2098	10	0.87932	D	0	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	653;488;641;641	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	641;653;641;641;641;489	ENSP00000334105:N641S;ENSP00000367734:N653S;ENSP00000278655:N641S;ENSP00000367754:N641S;ENSP00000367762:N641S;ENSP00000390616:N489S	ENSP00000278655:N641S	N	+	2	0	0	PLCB4	9337787	9337787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.265000	0.75225	0.459000	0.35465	AAC	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				36	35		124	121	1		1	0		0	0	37	0		1	0	0	0	0	1	0	36	124
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378493.1	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R797*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	797					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)			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						AGCCGGATATCGACACATTTC	0.448																																						ENST00000378493.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				87						c.(2389-2391)Cga>Tga		phospholipase C, beta 4							94.0	79.0	84.0					20																	9404500		2203	4300	6503	SO:0001587	stop_gained	5332	1	121408	31				g.chr20:9404500C>T		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.2389C>T	chr20.hg19:g.9404500C>T	ENSP00000367754:p.Arg797*	0					PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R797*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*	p.R797*			1	2	3	1.995265	Q15147	PLCB4_HUMAN		24	2404	+			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	0	1	hg19	c.2389C>T	CCDS13105.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.083261	0.99061	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.72	3.64	0.41730	5.72	3.64	0.41730	.	0.057043	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3444	0.60564	0.4142:0.5858:0.0:0.0	.	.	.	.	X	797;809;797;797;797;645	.	ENSP00000278655:R797X	R	+	1	2	2	PLCB4	9352500	9352500	0.998000	0.40836	0.948000	0.38648	0.696000	0.40369	1.218000	0.32467	1.391000	0.46566	0.655000	0.94253	CGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				28	28		146	142	1		1	0		0	0	47	0		1	1.299751e-01	0	1	0	3	0	28	146
PAK7	57144	broad.mit.edu	37	20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)			GTGAATCACTCCTTGGTTATG	0.438																																						ENST00000378429.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1687-1689)gGa>gTa		p21 protein (Cdc42/Rac)-activated kinase 7							144.0	123.0	130.0					20																	9538310		2203	4300	6503	SO:0001583	missense	57144	0	0					g.chr20:9538310C>A	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.1688G>T	chr20.hg19:g.9538310C>A	ENSP00000367686:p.Gly563Val	0					PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	p.G563V	NM_020341.3	NP_065074.1	1	2	3	1.995265	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)	8	2234	-			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	1	1	hg19	c.1688G>T	CCDS13107.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047858	0.93740	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.16897	2.31;2.31;2.31	5.69	5.69	0.88448	5.69	5.69	0.88448	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	0.58032	0.2094	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70992	-0.4721	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	563;563	B0AZM9;Q9P286	.;PAK7_HUMAN	V	563;563;563;511	ENSP00000367686:G563V;ENSP00000322957:G563V;ENSP00000367679:G563V	.	G	-	2	0	0	PAK7	9486310	9486310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GGA	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.577984	1	0.170000				76	76		311	303	1		1	0		0	0	69	0		1	0	0	0	0	1	0	76	311
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	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.S392S(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)			AGATGTACTGCGAACTGCTCT	0.597																																						ENST00000378429.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S392S(1)	lung(1)	81						c.(1174-1176)tcG>tcA		p21 protein (Cdc42/Rac)-activated kinase 7							133.0	127.0	129.0					20																	9546846		2203	4300	6503	SO:0001819	synonymous_variant	57144	0	0					g.chr20:9546846C>T	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.1176G>A	chr20.hg19:g.9546846C>T		0					PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	p.S392S	NM_020341.3	NP_065074.1	1	2	3	1.995265	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)	6	1722	-			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	1	1	hg19	c.1176G>A	CCDS13107.1	1																																																																																								1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000				108	108		449	438	1		1	0		0	0	96	0		1	0	0	0	0	1	0	108	449
PCMTD2	55251	broad.mit.edu	37	20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	213						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383																																						ENST00000308824.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(637-639)gCt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							108.0	102.0	104.0					20																	62899295		2203	4300	6503	SO:0001583	missense	55251	0	0					g.chr20:62899295C>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.638C>A	chr20.hg19:g.62899295C>A	ENSP00000307854:p.Ala213Asp	0					PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D	p.A213D	NM_018257.2	NP_060727.2	1	2	3	1.995265	Q9NV79	PCMD2_HUMAN		5	765	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	1	1	hg19	c.638C>A	CCDS13559.1	1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.233203	0.58777	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.43294	0.95;0.95	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.049390	0.85682	D	0.000000	T	0.36991	0.0987	L	0.29908	0.895	0.80722	D	1	B	0.24186	0.099	B	0.25140	0.058	T	0.11397	-1.0589	10	0.45353	T	0.12	-18.4738	19.5253	0.95203	0.0:1.0:0.0:0.0	.	213	Q9NV79	PCMD2_HUMAN	D	213	ENSP00000299468:A213D;ENSP00000307854:A213D	ENSP00000299468:A213D	A	+	2	0	0	PCMTD2	62369739	62369739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.696000	0.92011	0.650000	0.86243	GCT	1.742115e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_018257			66	65		255	251	1		1	1		0	0	71	0		1	9.999994e-01	0	16	0	68	0	66	255
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000361285.4	-	21	1684	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000342420.5_Splice_Site_p.S414L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	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.S434L(1)|p.S452L(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)		TTCTCTTACCGAACATTTTCC	0.323																																						ENST00000361285.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.984447	0.990000	1.000000																										2	Substitution - Missense(2)	p.S434L(1)|p.S452L(1)	lung(2)	130						c.(1354-1356)tCg>tTg		transmembrane phosphatase with tensin homology							69.0	61.0	64.0					21																	10914364		2203	4297	6500	SO:0001630	splice_region_variant	7179	375	121394	50				g.chr21:10914364G>A	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.1356+1C>T	chr21.hg19:g.10914364G>A		0					TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000342420.5_Splice_Site_p.S414L|TPTE_ENST00000415664.2_5'UTR	p.S452L	NM_199261.2	NP_954870	1	5	6	2.045119	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	21	1684	-			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	0	1	hg19	c.1355C>T	CCDS13560.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	0	TPTE	9936235	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-2.578441	1	0.170000		Missense_Mutation		19	18		220	215	0		1			0	0	46	0		9.999904e-01	0	0	0	0	0	0	19	220
TPTE	7179	broad.mit.edu	37	21	10973777	10973777	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000361285.4	-	4	287		c.e4-1		TPTE_ENST00000298232.7_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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)		TGTGGGTGGACTAGAGGATGT	0.363																																						ENST00000361285.4	1.000000	0.440000	8.700000e-01	5.600000e-01	0.700000	0.717290	0.700000	1.000000																										0				130						c.e4-1		transmembrane phosphatase with tensin homology							109.0	122.0	118.0					21																	10973777		2203	4300	6503	SO:0001630	splice_region_variant	7179	0	0					g.chr21:10973777C>A	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.43-1G>T	chr21.hg19:g.10973777C>A		0					TPTE_ENST00000298232.7_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site		NM_199261.2	NP_954870	0	0	0	1.956130	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	4	287	-			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	0	1	hg19		CCDS13560.2	0																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	1	0	1		2	2	2	0		0	0	55		55	58	1	2.060000	-19.993530	1	0.170000		Intron		19	17		293	260	0		1			0	0	55	0		9.999752e-01	0	0	0	0	0	0	19	293
BAGE2	85319	broad.mit.edu	37	21	11039076	11039076	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039076C>A	ENST00000470054.1	-	0	1127							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		AGTTCAGAATCTTCTTTCTGT	0.393																																						ENST00000470054.1	0.390000	0.230000	3.500000e-01	2.600000e-01	0.300000	0.315004	0.300000	0.310000																										0												B melanoma antigen family, member 2																																						85319	0	0					g.chr21:11039076C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		chr21.hg19:g.11039076C>A		0									0	0	0	1.956130	Q86Y30	BAGE2_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	0	1127	-			A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	0	1	hg19			0																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	0		2	2	2	0		0	0	416		416	414	1	2.060000	-20.000000	1	0.170000	NM_182482			58	44		2093	2033	0		1		1	0	0	416	1168		1	0	1	0	22	0	1354	58	2093
BAGE2	85319	broad.mit.edu	37	21	11098737	11098737	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11098737T>A	ENST00000470054.1	-	0	188							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		ccggccgccatcttactgctc	0.637																																						ENST00000470054.1	0.290000	0.120000	2.500000e-01	1.500000e-01	0.190000	0.205548	0.190000	0.200000																										0												B melanoma antigen family, member 2							104.0	151.0	135.0					21																	11098737		2128	4264	6392			85319	0	0					g.chr21:11098737T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		chr21.hg19:g.11098737T>A		0									0	0	0	1.956130	Q86Y30	BAGE2_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	0	188	-			A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	0	1	hg19			0																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	1		2	2	2	0		0	0	252		252	247	1	2.060000	-3.319889	1	0.170000	NM_182482			22	21		1260	1182	0		1			0	0	252	0		9.999973e-01	0	0	0	0	0	0	22	1260
RBM11	54033	broad.mit.edu	37	21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393																																						ENST00000400577.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998456	0.990000	1.000000																										0				16						c.(214-216)gGa>gTa		RNA binding motif protein 11							99.0	90.0	93.0					21																	15592002		1568	3582	5150	SO:0001583	missense	54033	0	0					g.chr21:15592002G>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.215G>T	chr21.hg19:g.15592002G>T	ENSP00000383421:p.Gly72Val	0					RBM11_ENST00000468643.1_3'UTR	p.G72V	NM_144770.3	NP_658983.3	0	0	0	1.956130	P57052	RBM11_HUMAN		2	224	+			Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	0	1	hg19	c.215G>T	CCDS46635.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467415	0.84533	.	.	ENSG00000185272	ENST00000400577	D	0.82255	-1.59	5.29	5.29	0.74685	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000016	D	0.94716	0.8295	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96230	0.9167	10	0.72032	D	0.01	-19.4528	18.9174	0.92512	0.0:0.0:1.0:0.0	.	72	P57052	RBM11_HUMAN	V	72	ENSP00000383421:G72V	ENSP00000383421:G72V	G	+	2	0	0	RBM11	14513873	14513873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.000000	0.70678	2.661000	0.90470	0.655000	0.94253	GGA	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_144770			22	21		135	134	1		1	0		0	0	16	0		9.999992e-01	2.129612e-01	0	0	0	6	0	22	135
HSPA13	6782	broad.mit.edu	37	21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	242						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532																																						ENST00000285667.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(724-726)aTg>aCg		heat shock protein 70kDa family, member 13							104.0	99.0	101.0					21																	15747996		2203	4300	6503	SO:0001583	missense	6782	0	0					g.chr21:15747996A>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.725T>C	chr21.hg19:g.15747996A>G	ENSP00000285667:p.Met242Thr	0					HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	p.M242T	NM_006948.4	NP_008879.3	0	0	0	1.956130	P48723	HSP13_HUMAN		4	792	-			B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	1	1	hg19	c.725T>C	CCDS13567.1	1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509572	0.85282	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00922	5.54;5.54	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.102150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71034	-0.4709	10	0.87932	D	0	-27.1554	16.2487	0.82472	1.0:0.0:0.0:0.0	.	242	P48723	HSP13_HUMAN	T	242;34	ENSP00000285667:M242T;ENSP00000441986:M34T	ENSP00000285667:M242T	M	-	2	0	0	HSPA13	14669867	14669867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.243000	0.73865	0.523000	0.50628	ATG	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000				91	85		373	359	1		1	1		0	0	90	0		1	1	0	30	0	108	0	91	373
HSPA13	6782	broad.mit.edu	37	21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_De_novo_Start_InFrame	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	121						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328																																						ENST00000285667.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(361-363)tTt>tGt		heat shock protein 70kDa family, member 13							83.0	86.0	85.0					21																	15753528		2203	4300	6503	SO:0001583	missense	6782	0	0					g.chr21:15753528A>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.362T>G	chr21.hg19:g.15753528A>C	ENSP00000285667:p.Phe121Cys	0					HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_De_novo_Start_InFrame	p.F121C	NM_006948.4	NP_008879.3	0	0	0	1.956130	P48723	HSP13_HUMAN		2	429	-			B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	1	1	hg19	c.362T>G	CCDS13567.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299836	0.81136	.	.	ENSG00000155304	ENST00000285667	T	0.01084	5.36	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-21.1643	15.8391	0.78831	1.0:0.0:0.0:0.0	.	121	P48723	HSP13_HUMAN	C	121	ENSP00000285667:F121C	ENSP00000285667:F121C	F	-	2	0	0	HSPA13	14675399	14675399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.144000	0.66660	0.528000	0.53228	TTT	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000				107	105		354	347	1		1	1		0	0	74	0		1	1	0	24	0	72	0	107	354
NRIP1	8204	broad.mit.edu	37	21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	272	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)			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)		ATGGGCTTCGCTTGACAGAAG	0.453																																						ENST00000400202.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(814-816)aGc>aAc		nuclear receptor interacting protein 1							157.0	142.0	147.0					21																	16339699		2203	4300	6503	SO:0001583	missense	8204	0	0					g.chr21:16339699C>T	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.815G>A	chr21.hg19:g.16339699C>T	ENSP00000383063:p.Ser272Asn	0					NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N|NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N	p.S272N			0	0	0	1.956130	P48552	NRIP1_HUMAN		3	1527	-			Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	1	1	hg19	c.815G>A	CCDS13568.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398344	0.83120	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.22134	1.97;1.97;1.97	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.87932	D	0	-15.7639	20.4753	0.99175	0.0:1.0:0.0:0.0	.	272	P48552	NRIP1_HUMAN	N	272	ENSP00000383060:S272N;ENSP00000383063:S272N;ENSP00000327213:S272N	ENSP00000327213:S272N	S	-	2	0	0	NRIP1	15261570	15261570	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	AGC	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_003489			71	70		384	375	1		1	1		0	0	108	0		1	9.997926e-01	0	7	0	62	0	71	384
USP25	29761	broad.mit.edu	37	21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285679.6	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.H268Y	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	268	USP.				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)			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)		TGAGTTTACACACAAATTATT	0.348																																						ENST00000285679.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999947	0.990000	1.000000																										0				52						c.(802-804)Cac>Tac		ubiquitin specific peptidase 25							73.0	70.0	71.0					21																	17181149		2203	4300	6503	SO:0001583	missense	29761	0	0					g.chr21:17181149C>T	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.802C>T	chr21.hg19:g.17181149C>T	ENSP00000285679:p.His268Tyr	0					USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.H268Y|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR	p.H268Y	NM_013396.3	NP_037528.3	0	0	0	1.956130	Q9UHP3	UBP25_HUMAN		8	1171	+			C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	1	1	hg19	c.802C>T	CCDS33515.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693941	0.88735	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.30182	1.54;1.54;1.54	4.83	4.83	0.62350	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	1.0;0.999;0.988	T	0.64719	-0.6341	10	0.72032	D	0.01	.	18.3146	0.90215	0.0:1.0:0.0:0.0	.	268;268;268	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Y	268	ENSP00000285681:H268Y;ENSP00000285679:H268Y;ENSP00000383044:H268Y	ENSP00000285679:H268Y	H	+	1	0	0	USP25	16103020	16103020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.380000	0.81148	0.591000	0.81541	CAC	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				30	29		151	151	1		1	1		0	0	32	0		1	9.944150e-01	0	12	0	32	0	30	151
USP25	29761	broad.mit.edu	37	21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285679.6	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.M280I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	280	USP.				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)			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)		CCTTCCAAATGAAAGCTGAAG	0.343																																						ENST00000285679.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999539	0.990000	1.000000																										0				52						c.(838-840)atG>atA		ubiquitin specific peptidase 25							74.0	71.0	72.0					21																	17181187		2203	4299	6502	SO:0001583	missense	29761	0	0					g.chr21:17181187G>A	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.840G>A	chr21.hg19:g.17181187G>A	ENSP00000285679:p.Met280Ile	0					USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.M280I|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR	p.M280I	NM_013396.3	NP_037528.3	0	0	0	1.956130	Q9UHP3	UBP25_HUMAN		8	1209	+			C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	1	1	hg19	c.840G>A	CCDS33515.1	1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903517	0.17760	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.29917	1.55;1.55;1.55	4.83	3.87	0.44632	4.83	3.87	0.44632	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.257684	0.45126	D	0.000399	T	0.07369	0.0186	N	0.00656	-1.285	0.32912	D	0.514673	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13335	-1.0513	10	0.22109	T	0.4	.	3.0751	0.06243	0.085:0.242:0.4095:0.2635	.	280;280;280	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	280	ENSP00000285681:M280I;ENSP00000285679:M280I;ENSP00000383044:M280I	ENSP00000285679:M280I	M	+	3	0	0	USP25	16103058	16103058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	2.380000	0.81148	0.591000	0.81541	ATG	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				27	26		159	159	1		1	1		0	0	37	0		1	9.997229e-01	0	8	0	71	0	27	159
BTG3	10950	broad.mit.edu	37	21	18981409	18981409	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000348354.6	-	2	310	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000339775.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	18					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ACTTATCATGTTTTCGAACTA	0.323																																						ENST00000348354.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(52-54)aaA>aaG		BTG family, member 3							92.0	91.0	91.0					21																	18981409		2203	4299	6502	SO:0001819	synonymous_variant	10950	0	0					g.chr21:18981409T>C	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.54A>G	chr21.hg19:g.18981409T>C		0					BTG3_ENST00000339775.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	p.K18K	NM_006806.4	NP_006797.3	0	0	0	1.956130	Q14201	BTG3_HUMAN		2	310	-			D3DSC4|Q53XV1|Q96ET7	Silent	SNP	ENST00000348354.6	1	1	hg19	c.54A>G	CCDS13569.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_006806			75	73		341	338	0		1	1		0	0	54	0		1	9.999997e-01	0	41	0	60	0	75	341
C21orf91	54149	broad.mit.edu	37	21	19169392	19169392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000400558.3	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Silent_p.G57G|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338																																						ENST00000400558.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				9						c.(169-171)ggC>ggT		chromosome 21 open reading frame 91							74.0	70.0	71.0					21																	19169392		1823	4069	5892	SO:0001819	synonymous_variant	54149	0	0					g.chr21:19169392G>A	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.171C>T	chr21.hg19:g.19169392G>A		0					C21orf91_ENST00000284881.4_Silent_p.G57G|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Silent_p.G57G	p.G57G	NM_001100421.1	NP_001093891.1	0	0	0	1.956130				3	261	-				Silent	SNP	ENST00000400558.3	1	1	hg19	c.171C>T	CCDS42909.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-19.999990	1	0.170000	NM_017447			54	54		312	309	1		1	1		0	0	61	0		1	9.860787e-01	0	10	0	31	0	54	312
TMPRSS15	5651	broad.mit.edu	37	21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	824	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			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						ACGCAGTGTGCGGCGGACACC	0.582																																						ENST00000284885.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				85						c.(2470-2472)Gca>Aca		transmembrane protease, serine 15							59.0	59.0	59.0					21																	19666603		2203	4300	6503	SO:0001583	missense	5651	0	0					g.chr21:19666603C>T		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.2470G>A	chr21.hg19:g.19666603C>T	ENSP00000284885:p.Ala824Thr	0						p.A824T	NM_002772.2	NP_002763	0	0	0	1.956130	P98073	ENTK_HUMAN		21	2503	-			Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	0	1	hg19	c.2470G>A	CCDS13571.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.207194	0.95033	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.79	5.79	0.91817	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99529	1.0960	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	824	P98073	ENTK_HUMAN	T	824	ENSP00000284885:A824T	.	A	-	1	0	0	TMPRSS15	18588474	18588474	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.021359	1	0.170000	NM_002772			61	61		339	323	0		1	0		0	0	66	0		1	4.128173e-01	0	0	0	9	0	61	339
TMPRSS15	5651	broad.mit.edu	37	21	19755999	19755999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	147	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)			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						GGCTGGATTTATTTGCTTCAA	0.368																																						ENST00000284885.3	1.000000	0.390000	8.700000e-01	5.200000e-01	0.680000	0.700803	0.680000	1.000000																										0				85						c.(439-441)aaT>aaC		transmembrane protease, serine 15							132.0	116.0	122.0					21																	19755999		2203	4300	6503	SO:0001819	synonymous_variant	5651	0	0					g.chr21:19755999A>G		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.441T>C	chr21.hg19:g.19755999A>G		0						p.N147N	NM_002772.2	NP_002763	0	0	0	1.956130	P98073	ENTK_HUMAN		4	474	-			Q2NKL7	Silent	SNP	ENST00000284885.3	1	1	hg19	c.441T>C	CCDS13571.1	0																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-17.697750	1	0.170000	NM_002772			14	14		223	218	0		1	0		0	0	40	0		9.997450e-01	3.626055e-02	0	0	0	5	0	14	223
NCAM2	4685	broad.mit.edu	37	21	22658710	22658710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				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)				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)		ATCATAATGAGGAAGTCACCA	0.388																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				108						c.(457-459)gaG>gaA		neural cell adhesion molecule 2							129.0	121.0	124.0					21																	22658710		2004	4172	6176	SO:0001819	synonymous_variant	4685	0	0					g.chr21:22658710G>A		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.459G>A	chr21.hg19:g.22658710G>A		0					NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000486367.1_3'UTR	p.E153E	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		4	708	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	1	1	hg19	c.459G>A	CCDS42910.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.850110	1	0.170000	NM_004540			42	38		237	236	1		1	0		0	0	55	0		1	2.922689e-01	0	0	0	7	0	42	237
NCAM2	4685	broad.mit.edu	37	21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	195	Ig-like C2-type 2.				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)				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)		GGCCAGGGGAGAAATTGACTT	0.338																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999497	0.990000	1.000000																										0				108						c.(583-585)Gaa>Taa		neural cell adhesion molecule 2							166.0	164.0	165.0					21																	22664525		1843	4092	5935	SO:0001587	stop_gained	4685	0	0					g.chr21:22664525G>T		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.583G>T	chr21.hg19:g.22664525G>T	ENSP00000383392:p.Glu195*	0					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	p.E195*	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		5	832	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	0	1	hg19	c.583G>T	CCDS42910.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.876320	0.97904	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6042	18.2691	0.90062	0.0:0.0:1.0:0.0	.	.	.	.	X	195;53;220	.	ENSP00000284894:E53X	E	+	1	0	0	NCAM2	21586396	21586396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.733000	0.93635	0.655000	0.94253	GAA	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-17.120240	1	0.170000	NM_004540			39	39		266	259	1		1	0		0	0	71	0		1	1.310129e-01	0	0	0	5	0	39	266
NCAM2	4685	broad.mit.edu	37	21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	386	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)				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)		GCAAGCAGAATTGGAGGGCAT	0.368																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				108						c.(1156-1158)aTt>aGt		neural cell adhesion molecule 2							174.0	166.0	168.0					21																	22746295		1907	4137	6044	SO:0001583	missense	4685	0	0					g.chr21:22746295T>G		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.1157T>G	chr21.hg19:g.22746295T>G	ENSP00000383392:p.Ile386Ser	0					NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	p.I386S	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		9	1406	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	1	1	hg19	c.1157T>G	CCDS42910.1	1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594621	0.86953	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.984	T	0.76645	-0.2883	10	0.54805	T	0.06	-19.527	14.5628	0.68153	0.0:0.0:0.0:1.0	.	411;244;386	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	386;244;411	ENSP00000383392:I386S;ENSP00000284894:I244S;ENSP00000441887:I411S	ENSP00000284894:I244S	I	+	2	0	0	NCAM2	21668166	21668166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.524000	0.50904	ATT	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_004540			61	60		386	375	1		1	0		0	0	95	0		1	1.933185e-02	0	0	0	2	0	61	386
NCAM2	4685	broad.mit.edu	37	21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	497					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)				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)		GACGTGCCATCCAGTCCCTAT	0.443																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999912	0.990000	1.000000																										0				108						c.(1489-1491)tCc>tTc		neural cell adhesion molecule 2							62.0	59.0	60.0					21																	22804437		1924	4136	6060	SO:0001583	missense	4685	0	0					g.chr21:22804437C>T		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.1490C>T	chr21.hg19:g.22804437C>T	ENSP00000383392:p.Ser497Phe	0					NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	p.S497F	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		12	1739	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	1	1	hg19	c.1490C>T	CCDS42910.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959169	0.74016	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58797	0.31;0.31	5.03	5.03	0.67393	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85261	0.1050	10	0.87932	D	0	-10.8145	16.9239	0.86170	0.0:1.0:0.0:0.0	.	355;497	B7Z5K2;O15394	.;NCAM2_HUMAN	F	497;355	ENSP00000383392:S497F;ENSP00000284894:S355F	ENSP00000284894:S355F	S	+	2	0	0	NCAM2	21726308	21726308	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.249000	0.72427	2.328000	0.79073	0.505000	0.49811	TCC	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-17.839300	1	0.170000	NM_004540			35	35		201	198	1		1	0		0	0	66	0		1	5.086177e-01	0	0	0	11	0	35	201
NCAM2	4685	broad.mit.edu	37	21	22840987	22840987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		ATCTAGGTGAACCAAGTCCTC	0.363																																						ENST00000400546.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997418	0.990000	1.000000																										0				108						c.(1777-1779)gaA>gaG		neural cell adhesion molecule 2							94.0	87.0	89.0					21																	22840987		1881	4105	5986	SO:0001819	synonymous_variant	4685	0	0					g.chr21:22840987A>G		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.1779A>G	chr21.hg19:g.22840987A>G		0					NCAM2_ENST00000284894.7_Silent_p.E451E	p.E593E	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		14	2028	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	1	1	hg19	c.1779A>G	CCDS42910.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-14.365840	1	0.170000	NM_004540			33	32		245	238	0		1	0		0	0	57	0		1	2.519631e-01	0	0	0	8	0	33	245
NCAM2	4685	broad.mit.edu	37	21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		AAGATAAGGAAGACCAATGGC	0.348																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				108						c.(1906-1908)gaA>gaC		neural cell adhesion molecule 2							84.0	78.0	80.0					21																	22849623		1830	4090	5920	SO:0001583	missense	4685	0	0					g.chr21:22849623A>C		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.1908A>C	chr21.hg19:g.22849623A>C	ENSP00000383392:p.Glu636Asp	0					NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	p.E636D	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		15	2157	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	1	1	hg19	c.1908A>C	CCDS42910.1	1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742087	0.69418	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59224	0.28;0.28	5.8	4.67	0.58626	5.8	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.50333	1.59	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.72982	0.979;0.979	T	0.66432	-0.5925	10	0.42905	T	0.14	-31.9442	10.259	0.43414	0.9222:0.0:0.0778:0.0	.	494;636	B7Z5K2;O15394	.;NCAM2_HUMAN	D	636;494	ENSP00000383392:E636D;ENSP00000284894:E494D	ENSP00000284894:E494D	E	+	3	2	2	NCAM2	21771494	21771494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.295000	0.65692	2.213000	0.71641	0.528000	0.53228	GAA	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-18.609900	1	0.170000	NM_004540			39	38		230	227	1		1	0		0	0	40	0		1	3.350080e-01	0	0	0	8	0	39	230
NCAM2	4685	broad.mit.edu	37	21	22849626	22849626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		ATAAGGAAGACCAATGGCTAG	0.348																																						ENST00000400546.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(1909-1911)gaC>gaT		neural cell adhesion molecule 2							84.0	79.0	81.0					21																	22849626		1832	4092	5924	SO:0001819	synonymous_variant	4685	0	0					g.chr21:22849626C>T		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.1911C>T	chr21.hg19:g.22849626C>T		0					NCAM2_ENST00000284894.7_Silent_p.D495D	p.D637D	NM_004540.3	NP_004531.2	0	0	0	1.956130	O15394	NCAM2_HUMAN		15	2160	+		Lung NSC(9;0.195)	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	1	1	hg19	c.1911C>T	CCDS42910.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_004540			57	57		219	215	1		1	0		0	0	40	0		1	5.194067e-01	0	0	0	8	0	57	219
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T	rs369585750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.001		0.0	False		,,,				2504	0.0					ENST00000480456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A104V(1)	lung(1)	19						c.(310-312)gCg>gTg		junctional adhesion molecule 2		C	VAL/ALA	3,3919		0,3,1958	167.0	168.0	167.0		311	5.6	1.0	21		167	0,8280		0,0,4140	no	missense	JAM2	NM_021219.2	64	0,3,6098	TT,TC,CC		0.0,0.0765,0.0246	probably-damaging	104/299	27066137	3,12199	1961	4140	6101	SO:0001583	missense	58494	6	120892	42				g.chr21:27066137C>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.311C>T	chr21.hg19:g.27066137C>T	ENSP00000420419:p.Ala104Val	0					JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	0	0	0	1.956130	P57087	JAM2_HUMAN		4	861	+			B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	1	1	hg19	c.311C>T	CCDS42911.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	0	JAM2	25988008	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.159550	1	0.170000				81	80		365	360	1		1	0		0	0	73	0		1	9.996943e-01	0	0	0	56	0	81	365
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000312957.5_Silent_p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373																																						ENST00000480456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(577-579)aaT>aaC		junctional adhesion molecule 2							110.0	102.0	104.0					21																	27071173		1878	4104	5982	SO:0001819	synonymous_variant	58494	0	0					g.chr21:27071173T>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.579T>C	chr21.hg19:g.27071173T>C		0					JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000312957.5_Silent_p.N193N	p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	0	0	0	1.956130	P57087	JAM2_HUMAN		5	1129	+			B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	1	1	hg19	c.579T>C	CCDS42911.1	1																																																																																								1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				94	90		404	398	1		1	0		0	0	85	0		1	9.996909e-01	0	0	0	53	0	94	404
GABPA	2551	broad.mit.edu	37	21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	300					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAAGAGCGCCGAGGATTTCA	0.358																																						ENST00000354828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(898-900)cCg>cTg		GA binding protein transcription factor, alpha subunit 60kDa							61.0	64.0	63.0					21																	27136617		2203	4297	6500	SO:0001583	missense	2551	0	0					g.chr21:27136617C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.899C>T	chr21.hg19:g.27136617C>T	ENSP00000346886:p.Pro300Leu	0					GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	p.P300L	NM_001197297.1	NP_001184226.1	0	0	0	1.956130	Q06546	GABPA_HUMAN		8	1426	+			Q12939	Missense_Mutation	SNP	ENST00000354828.3	1	1	hg19	c.899C>T	CCDS13575.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344595	0.61073	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13657	2.57;2.57	4.67	4.67	0.58626	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.085290	0.50627	D	0.000119	T	0.09423	0.0232	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	B	0.35353	0.201	T	0.29181	-1.0020	10	0.25106	T	0.35	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	300	Q06546	GABPA_HUMAN	L	300	ENSP00000346886:P300L;ENSP00000382948:P300L	ENSP00000346886:P300L	P	+	2	0	0	GABPA	26058488	26058488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.331000	0.65905	2.586000	0.87340	0.591000	0.81541	CCG	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-2.760817	1	0.170000	NM_002040			63	62		303	297	1		1	1		0	0	49	0		1	1	0	20	0	109	0	63	303
GABPA	2551	broad.mit.edu	37	21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	399					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTGTACAAGTTTGTCTGTGAC	0.363																																						ENST00000354828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1195-1197)tTt>tGt		GA binding protein transcription factor, alpha subunit 60kDa							103.0	108.0	107.0					21																	27141374		2203	4300	6503	SO:0001583	missense	2551	0	0					g.chr21:27141374T>G		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1196T>G	chr21.hg19:g.27141374T>G	ENSP00000346886:p.Phe399Cys	0					GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	p.F399C	NM_001197297.1	NP_001184226.1	0	0	0	1.956130	Q06546	GABPA_HUMAN		10	1723	+			Q12939	Missense_Mutation	SNP	ENST00000354828.3	1	1	hg19	c.1196T>G	CCDS13575.1	1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846514	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.36699	1.24;1.24	5.87	5.87	0.94306	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.046101	0.85682	D	0.000000	T	0.73458	0.3589	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83257	-0.0050	10	0.87932	D	0	.	15.9351	0.79698	0.0:0.0:0.0:1.0	.	399	Q06546	GABPA_HUMAN	C	399	ENSP00000346886:F399C;ENSP00000382948:F399C	ENSP00000346886:F399C	F	+	2	0	0	GABPA	26063245	26063245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.247000	0.74100	0.477000	0.44152	TTT	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_002040			167	166		715	681	1		1	1		0	0	193	0		1	9.999996e-01	0	23	0	65	0	167	715
APP	351	broad.mit.edu	37	21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000346798.3	-	9	1127	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000359726.3_Missense_Mutation_p.P309H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					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)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCTGTTGTAGGAACTATAAA	0.418																																						ENST00000346798.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1093-1095)cCt>cAt		amyloid beta (A4) precursor protein							55.0	53.0	54.0					21																	27354787		2203	4300	6503	SO:0001583	missense	351	0	0					g.chr21:27354787G>T	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.1094C>A	chr21.hg19:g.27354787G>T	ENSP00000284981:p.Pro365His	0					APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000354192.3_Missense_Mutation_p.P234H	p.P365H	NM_000484.3	NP_000475.1	0	0	0	1.956130	P05067	A4_HUMAN		9	1127	-		Breast(209;0.00295)	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	1	1	hg19	c.1094C>A	CCDS13576.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135759	0.77662	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;T;T;D;D;D;T;D;D	0.96913	-2.24;0.94;0.94;-2.24;-2.07;-4.17;0.94;-2.24;-2.22	5.45	4.57	0.56435	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.988;1.0;0.963;0.985;1.0	P;D;P;D;P;P;D	0.97110	0.797;1.0;0.866;0.997;0.694;0.694;0.999	D	0.96487	0.9361	10	0.18276	T	0.48	-8.6512	14.2738	0.66167	0.0719:0.0:0.9281:0.0	.	255;309;341;234;290;346;365	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	H	365;234;290;346;365;309;255;341;309	ENSP00000284981:P365H;ENSP00000346129:P234H;ENSP00000345463:P290H;ENSP00000350578:P346H;ENSP00000351796:P365H;ENSP00000352760:P309H;ENSP00000388538:P255H;ENSP00000387483:P341H;ENSP00000398879:P309H	ENSP00000284981:P365H	P	-	2	0	0	APP	26276658	26276658	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.263000	0.95617	1.540000	0.49301	0.655000	0.94253	CCT	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.067111	1	0.170000	NM_000484			46	45		212	208	1		1	1		0	0	48	0		1	1	0	394	0	2260	0	46	212
APP	351	broad.mit.edu	37	21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000346798.3	-	6	850	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000359726.3_Missense_Mutation_p.A273T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	273					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)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				gtggtggtggcaatgctggtg	0.537																																						ENST00000346798.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999405	0.990000	1.000000																										0				22						c.(817-819)Gcc>Acc		amyloid beta (A4) precursor protein							230.0	156.0	181.0					21																	27394204		2203	4300	6503	SO:0001583	missense	351	0	0					g.chr21:27394204C>T	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.817G>A	chr21.hg19:g.27394204C>T	ENSP00000284981:p.Ala273Thr	0					APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000354192.3_Missense_Mutation_p.A217T	p.A273T	NM_000484.3	NP_000475.1	0	0	0	1.956130	P05067	A4_HUMAN		6	850	-		Breast(209;0.00295)	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	1	1	hg19	c.817G>A	CCDS13576.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.740328|2.740328	0.49045|0.49045	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96300|.	1.89;-3.95;-3.95;1.89;1.89;-3.97;-3.95;1.89;1.89|.	3.62|3.62	3.62|3.62	0.41486|0.41486	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.304797|.	0.34411|.	N|.	0.003993|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.35957|0.35957	D|D	0.834349|0.834349	D;P;P;P;P;P;P;P|.	0.67145|.	0.996;0.805;0.805;0.805;0.877;0.877;0.877;0.805|.	D;P;P;P;P;P;P;P|.	0.73708|.	0.981;0.483;0.483;0.483;0.682;0.682;0.682;0.483|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.30854|.	T|.	0.27|.	-13.2249|-13.2249	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;238;217;268;217;273;273;273|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|Y	273;217;273;273;273;273;238;268;217|194;63	ENSP00000284981:A273T;ENSP00000346129:A217T;ENSP00000345463:A273T;ENSP00000350578:A273T;ENSP00000351796:A273T;ENSP00000352760:A273T;ENSP00000388538:A238T;ENSP00000387483:A268T;ENSP00000398879:A217T|.	ENSP00000284981:A273T|.	A|C	-|-	1|2	0|0	0|0	APP|APP	26316075|26316075	26316075|26316075	0.979000|0.979000	0.34478|0.34478	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GCC|TGC	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-13.626390	1	0.170000	NM_000484			24	24		137	128	1		1	1		0	0	39	0		9.999997e-01	1	0	451	0	2274	0	24	137
ADAMTS1	9510	broad.mit.edu	37	21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	925	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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)		GTAACCCTTCCCACAGGTCTT	0.488																																						ENST00000284984.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2773-2775)gGg>gAg		ADAM metallopeptidase with thrombospondin type 1 motif, 1							110.0	115.0	113.0					21																	28210028		2203	4300	6503	SO:0001583	missense	9510	0	0					g.chr21:28210028C>T	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.2774G>A	chr21.hg19:g.28210028C>T	ENSP00000284984:p.Gly925Glu	0						p.G925E	NM_006988.3	NP_008919.3	0	0	0	1.956130	Q9UHI8	ATS1_HUMAN		9	3228	-		Breast(209;0.000962)	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	1	1	hg19	c.2774G>A	CCDS33524.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630108	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.70516	-0.49	5.52	4.62	0.57501	5.52	4.62	0.57501	.	.	.	.	.	D	0.85150	0.5631	M	0.91663	3.23	0.80722	D	1	P	0.50066	0.931	P	0.60345	0.873	D	0.86873	0.2037	9	0.52906	T	0.07	.	14.8111	0.69996	0.0:0.9302:0.0:0.0698	.	925	Q9UHI8	ATS1_HUMAN	E	925	ENSP00000284984:G925E	ENSP00000284984:G925E	G	-	2	0	0	ADAMTS1	27131899	27131899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.873000	0.98535	0.563000	0.77884	GGG	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.301912	1	0.170000				117	116		518	506	1		1	0		0	0	96	0		1	9.999833e-01	0	0	0	71	0	117	518
ADAMTS5	11096	broad.mit.edu	37	21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2740-2742)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 5							93.0	76.0	82.0					21																	28296425		2203	4300	6503	SO:0001583	missense	11096	0	0					g.chr21:28296425G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2740C>A	chr21.hg19:g.28296425G>T	ENSP00000284987:p.Pro914Thr	0					AP001601.2_ENST00000426771.1_RNA	p.P914T	NM_007038.3	NP_008969.2	0	0	0	1.956130	Q9UNA0	ATS5_HUMAN		8	2861	-			Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	1	1	hg19	c.2740C>A	CCDS13579.1	1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278957	0.10458	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	6.07	5.18	0.71444	6.07	5.18	0.71444	.	0.419349	0.27846	N	0.017613	T	0.31104	0.0786	N	0.08118	0	0.22684	N	0.998853	B	0.02656	0.0	B	0.06405	0.002	T	0.15838	-1.0423	10	0.37606	T	0.19	.	16.9877	0.86345	0.0:0.0:0.8717:0.1282	.	914	Q9UNA0	ATS5_HUMAN	T	914	ENSP00000284987:P914T	ENSP00000284987:P914T	P	-	1	0	0	ADAMTS5	27218296	27218296	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.614000	0.46359	1.551000	0.49450	0.655000	0.94253	CCT	1.527154e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000				66	65		251	251	1		1	0		0	0	58	0		1	7.454868e-01	0	0	0	12	0	66	251
ADAMTS5	11096	broad.mit.edu	37	21	28302267	28302267	+	Silent	SNP	G	G	A	rs201435455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18598	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5			0	0																														0				72						c.(2161-2163)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 5		G		0,4406		0,0,2203	211.0	188.0	196.0		2163	-3.7	0.8	21		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		721/931	28302267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096	2	121412	41				g.chr21:28302267G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2163C>T	chr21.hg19:g.28302267G>A							AP001601.2_ENST00000426771.1_RNA	p.C721C	NM_007038.3	NP_008969.2					Q9UNA0	ATS5_HUMAN		7	2284	-			Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	1	1	hg19	c.2163C>T	CCDS13579.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	1		2	2	2	0		0	0	192		192	191	1	2.060000	-20.000000	1	0.170000				156	153		592	586	0		1	0		0	0	192	0		1	3.674904e-01	0	0	0	6	0	156	592
USP16	10600	broad.mit.edu	37	21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000535828.1_Missense_Mutation_p.V139I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAATATTGTGTCAACCAGAA	0.333																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4	1.000000	0.600000	9.600000e-01	7.200000e-01	0.850000	0.846462	0.850000	1.000000																										0				34						c.(1528-1530)Gtc>Atc		ubiquitin specific peptidase 16							70.0	68.0	69.0					21																	30419159		2203	4300	6503	SO:0001583	missense	10600	0	0					g.chr21:30419159G>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1528G>A	chr21.hg19:g.30419159G>A	ENSP00000334808:p.Val510Ile	1					USP16_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I	p.V510I	NM_001032410.1	NP_001027582.1	0	1	1	1.813308				15	1759	+				Missense_Mutation	SNP	ENST00000334352.4	1	1	hg19	c.1528G>A	CCDS13583.1	1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478861	0.12581	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.4;3.39;3.39;1.46	5.08	0.955	0.19602	5.08	0.955	0.19602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.536420	0.03185	N	0.172530	T	0.14141	0.0342	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.31351	0.32;0.167;0.102;0.125	B;B;B;B	0.34301	0.179;0.085;0.086;0.14	T	0.19679	-1.0298	10	0.34782	T	0.22	.	5.4608	0.16615	0.322:0.0:0.5127:0.1653	.	139;495;509;510	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	I	509;510;510;139	ENSP00000382857:V509I;ENSP00000382858:V510I;ENSP00000334808:V510I;ENSP00000442855:V139I	ENSP00000334808:V510I	V	+	1	0	0	USP16	29341030	29341030	0.019000	0.18553	0.327000	0.25402	0.225000	0.24961	0.373000	0.20484	0.342000	0.23796	-0.749000	0.03505	GTC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.333	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				26	25		273	268	1		1	1		0	0	58	0		9.999999e-01	9.995981e-01	0	17	0	112	0	26	273
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4	1.000000	0.820000	1	8.900000e-01	0.950000	0.951078	0.950000	1.000000																										0				34						c.(1849-1851)ttC>ttA		ubiquitin specific peptidase 16							126.0	130.0	129.0					21																	30419482		2203	4300	6503	SO:0001583	missense	10600	0	0					g.chr21:30419482C>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1851C>A	chr21.hg19:g.30419482C>A	ENSP00000334808:p.Phe617Leu	1					USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	p.F617L	NM_001032410.1	NP_001027582.1	0	1	1	1.813308				15	2082	+				Missense_Mutation	SNP	ENST00000334352.4	1	1	hg19	c.1851C>A	CCDS13583.1	1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	2	USP16	29341353	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1	0	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-3.221883	1	0.170000				75	74		648	641	1		1	1		0	0	142	0		1	9.999377e-01	0	20	0	100	0	75	648
CCT8	10694	broad.mit.edu	37	21	30433572	30433572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000470450.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA	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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323																																						ENST00000286788.4	1.000000	0.660000	9.800000e-01	7.800000e-01	0.900000	0.888302	0.900000	1.000000																										0				14						c.e13+1		chaperonin containing TCP1, subunit 8 (theta)							78.0	80.0	79.0					21																	30433572		2203	4300	6503	SO:0001630	splice_region_variant	10694	0	0					g.chr21:30433572A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1449+1T>C	chr21.hg19:g.30433572A>G		1					CCT8_ENST00000470450.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site		NM_006585.2	NP_006576.2	0	1	1	1.813308	P50990	TCPQ_HUMAN		13	1656	-			A6NN54|B4DEM7|B4DQH4|Q4VBP8	Splice_Site	SNP	ENST00000286788.4	1	1	hg19		CCDS33528.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026103	0.75390	.	.	ENSG00000156261	ENST00000432178;ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5098	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CCT8	29355443	29355443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.655000	0.91098	2.304000	0.77564	0.528000	0.53228	.	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000		Intron		28	28		257	254	0		1	1		0	0	76	0		1	8.448699e-02	0	3	0	2	0	28	257
BACH1	571	broad.mit.edu	37	21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTTCATCACACTGTCAGAAA	0.373																																						ENST00000399921.1	1.000000	0.680000	9.800000e-01	7.900000e-01	0.900000	0.889937	0.900000	1.000000																										0				27						c.(445-447)cAc>cGc		BTB and CNC homology 1, basic leucine zipper transcription factor 1							73.0	75.0	75.0					21																	30698591		2203	4300	6503	SO:0001583	missense	571	0	0					g.chr21:30698591A>G	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.446A>G	chr21.hg19:g.30698591A>G	ENSP00000382805:p.His149Arg	1					BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	p.H149R	NM_206866.1	NP_996749.1	0	1	1	1.813308	Q9BX63	FANCJ_HUMAN		3	689	+			Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	1	1	hg19	c.446A>G	CCDS13585.1	1	.	.	.	.	.	.	.	.	.	.	A	4.953	0.177102	0.09443	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.76316	-0.54;-0.54;-0.87;-0.87;-1.01	5.45	1.81	0.25067	5.45	1.81	0.25067	.	0.459050	0.23900	N	0.043458	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.22109	T	0.4	-4.9071	1.8311	0.03130	0.4783:0.1338:0.2672:0.1208	.	149	O14867	BACH1_HUMAN	R	149	ENSP00000286800:H149R;ENSP00000382805:H149R;ENSP00000400576:H149R;ENSP00000408605:H149R;ENSP00000392202:H149R	ENSP00000286800:H149R	H	+	2	0	0	BACH1	29620462	29620462	0.006000	0.16342	0.545000	0.28153	0.716000	0.41182	0.999000	0.29757	0.136000	0.18733	0.482000	0.46254	CAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_206866			35	32		337	327	1		1	1		0	0	83	0		1	9.955495e-01	0	12	0	71	0	35	337
CLDN17	26285	broad.mit.edu	37	21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A	rs377679902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	210					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453																																						ENST00000286808.3	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.924379	0.930000	1.000000																										0				23						c.(628-630)Cga>Tga		claudin 17		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	247.0	234.0	239.0		628	4.6	0.0	21		239	0,8600		0,0,4300	no	stop-gained	CLDN17	NM_012131.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/225	31538308	1,13005	2203	4300	6503	SO:0001587	stop_gained	26285	1	121412	35				g.chr21:31538308G>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.628C>T	chr21.hg19:g.31538308G>A	ENSP00000286808:p.Arg210*	1						p.R210*	NM_012131.2	NP_036263.1	0	1	1	1.813308	P56750	CLD17_HUMAN		1	663	-			Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	ENST00000286808.3	0	1	hg19	c.628C>T	CCDS13586.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271533	0.59649	2.27E-4	0.0	ENSG00000156282	ENST00000286808	.	.	.	4.63	4.63	0.57726	4.63	4.63	0.57726	.	1.504630	0.03641	N	0.239477	.	.	.	.	.	.	0.37719	D	0.924843	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000286808:R210X	R	-	1	2	2	CLDN17	30460179	30460179	0.543000	0.26434	0.020000	0.16555	0.034000	0.12701	4.862000	0.62976	2.865000	0.98341	0.655000	0.94253	CGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-13.817710	1	0.170000	NM_012131			37	37		307	302	1		1			0	0	78	0		1	0	0	0	0	0	0	37	307
KRTAP24-1	643803	broad.mit.edu	37	21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423																																						ENST00000340345.4	1.000000	0.950000	1	9.800000e-01	0.990000	0.994567	0.990000	1.000000																										0				14						c.(589-591)agC>agA		keratin associated protein 24-1							108.0	106.0	107.0					21																	31654660		1860	4106	5966	SO:0001583	missense	643803	0	0					g.chr21:31654660G>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.591C>A	chr21.hg19:g.31654660G>T	ENSP00000339238:p.Ser197Arg	1						p.S197R	NM_001085455.1	NP_001078924.1	0	1	1	1.813308	Q3LI83	KR241_HUMAN		1	616	-			Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	1	1	hg19	c.591C>A	CCDS42915.1	1	.	.	.	.	.	.	.	.	.	.	g	2.552	-0.303796	0.05495	.	.	ENSG00000188694	ENST00000340345	T	0.37058	1.22	4.93	0.789	0.18607	4.93	0.789	0.18607	.	1.016370	0.07852	N	0.964882	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.29212	-1.0019	10	0.25106	T	0.35	-0.0641	6.5864	0.22622	0.0855:0.0:0.4606:0.454	.	197	Q3LI83	KR241_HUMAN	R	197	ENSP00000339238:S197R	ENSP00000339238:S197R	S	-	3	2	2	KRTAP24-1	30576531	30576531	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	0.131000	0.15870	0.022000	0.15160	-0.213000	0.12676	AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_001085455			103	103		350	343	1		1			0	0	94	0		1	0	0	0	0	0	0	103	350
KRTAP13-2	337959	broad.mit.edu	37	21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	rs146985381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	20						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542													c|||	23	0.00459265	0.0008	0.0	5008	,	,		19202	0.006		0.0	False		,,,				2504	0.0164					ENST00000399889.2	1.000000	0.720000	9.800000e-01	8.100000e-01	0.900000	0.896272	0.900000	1.000000																										0				21						c.(58-60)cGc>cAc		keratin associated protein 13-2							147.0	130.0	136.0					21																	31744473		2203	4300	6503	SO:0001583	missense	337959	271	121412	55				g.chr21:31744473C>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.59G>A	chr21.hg19:g.31744473C>T	ENSP00000382777:p.Arg20His	1						p.R20H	NM_181621.3	NP_853652.1	0	1	1	1.813308	Q52LG2	KR132_HUMAN		1	84	-				Missense_Mutation	SNP	ENST00000399889.2	1	1	hg19	c.59G>A	CCDS13589.1	1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	0.083	-1.180788	0.01633	.	.	ENSG00000182816	ENST00000399889	T	0.02890	4.12	4.42	-5.38	0.02673	4.42	-5.38	0.02673	.	1.384710	0.05163	N	0.498224	T	0.02047	0.0064	L	0.48260	1.515	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.44574	-0.9319	10	0.15499	T	0.54	.	8.6683	0.34134	0.0:0.3444:0.1055:0.5501	.	20	Q52LG2	KR132_HUMAN	H	20	ENSP00000382777:R20H	ENSP00000382777:R20H	R	-	2	0	0	KRTAP13-2	30666344	30666344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.123000	0.00594	-1.931000	0.01055	-0.722000	0.03604	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-2.966611	1	0.170000				62	58		639	618	0		1			0	0	132	0		1	0	0	0	0	0	0	62	639
KRTAP13-1	140258	broad.mit.edu	37	21	31768629	31768629	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCAGCCCCTGCCAGACCT	0.612																																						ENST00000355459.2	0.550000	0.170000	4.500000e-01	2.400000e-01	0.330000	0.353300	0.330000	0.330000																										0				22						c.(223-225)ccC>ccA		keratin associated protein 13-1							62.0	63.0	62.0					21																	31768629		2203	4300	6503	SO:0001819	synonymous_variant	140258	0	0					g.chr21:31768629C>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.225C>A	chr21.hg19:g.31768629C>A		1						p.P75P	NM_181599.2	NP_853630.2	0	1	1	1.813308	Q8IUC0	KR131_HUMAN		1	238	+			Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	1	1	hg19	c.225C>A	CCDS13590.2	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3	0	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.525270	1	0.170000				11	11		343	338	0		1			0	0	84	0		9.982642e-01	0	0	0	0	0	0	11	343
KRTAP13-4	284827	broad.mit.edu	37	21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.996200	0.990000	1.000000																										0				15						c.(34-36)tCc>tTc		keratin associated protein 13-4							110.0	112.0	111.0					21																	31802628		2203	4300	6503	SO:0001583	missense	284827	1	121412	34				g.chr21:31802628C>T	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.35C>T	chr21.hg19:g.31802628C>T	ENSP00000334834:p.Ser12Phe	1						p.S12F	NM_181600.1	NP_853631.1	0	1	1	1.813308	Q3LI77	KR134_HUMAN		1	57	+			A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	1	1	hg19	c.35C>T	CCDS13592.1	1	.	.	.	.	.	.	.	.	.	.	-	13.03	2.114494	0.37339	.	.	ENSG00000186971	ENST00000334068	T	0.09255	3.0	4.95	4.07	0.47477	4.95	4.07	0.47477	.	0.174955	0.27052	U	0.021169	T	0.35941	0.0949	M	0.88450	2.955	0.30548	N	0.765701	D	0.89917	1.0	D	0.77004	0.989	T	0.45673	-0.9245	10	0.87932	D	0	.	10.1859	0.42998	0.0:0.9051:0.0:0.0949	.	12	Q3LI77	KR134_HUMAN	F	12	ENSP00000334834:S12F	ENSP00000334834:S12F	S	+	2	0	0	KRTAP13-4	30724499	30724499	0.030000	0.19436	0.837000	0.33122	0.029000	0.11900	1.872000	0.39549	1.394000	0.46624	0.650000	0.86243	TCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1	1	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-20.000000	1	0.170000				133	133		513	501	1		1			0	0	157	0		1	0	0	0	0	0	0	133	513
KRTAP15-1	254950	broad.mit.edu	37	21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463																																						ENST00000334067.3	1.000000	0.660000	9.800000e-01	7.800000e-01	0.890000	0.881162	0.890000	1.000000																										0				11						c.(55-57)Ctg>Atg		keratin associated protein 15-1							96.0	93.0	94.0					21																	31812700		2203	4300	6503	SO:0001583	missense	254950	0	0					g.chr21:31812700C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.55C>A	chr21.hg19:g.31812700C>A	ENSP00000334866:p.Leu19Met	1						p.L19M	NM_181623.1	NP_853654.1	0	1	1	1.813308	Q3LI76	KR151_HUMAN		1	104	+			Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	1	1	hg19	c.55C>A	CCDS13593.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228604	0.39399	.	.	ENSG00000186970	ENST00000334067	T	0.03717	3.83	4.7	-0.183	0.13284	4.7	-0.183	0.13284	.	0.385350	0.18546	N	0.138051	T	0.11707	0.0285	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03993	-1.0986	10	0.59425	D	0.04	-1.5745	7.2605	0.26201	0.0:0.5014:0.0:0.4986	.	19	Q3LI76	KR151_HUMAN	M	19	ENSP00000334866:L19M	ENSP00000334866:L19M	L	+	1	2	2	KRTAP15-1	30734571	30734571	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.369000	0.07533	-0.042000	0.13535	0.655000	0.94253	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.075755	1	0.170000				33	31		324	314	0		1			0	0	73	0		1	0	0	0	0	0	0	33	324
KRTAP15-1	254950	broad.mit.edu	37	21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C	rs375869233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	69						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512																																						ENST00000334067.3	1.000000	0.780000	1	8.600000e-01	0.940000	0.935480	0.940000	1.000000																										0				11						c.(205-207)agA>agC		keratin associated protein 15-1							124.0	117.0	119.0					21																	31812852		2203	4300	6503	SO:0001583	missense	254950	0	0					g.chr21:31812852A>C	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.207A>C	chr21.hg19:g.31812852A>C	ENSP00000334866:p.Arg69Ser	1						p.R69S	NM_181623.1	NP_853654.1	0	1	1	1.813308	Q3LI76	KR151_HUMAN		1	256	+			Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	1	1	hg19	c.207A>C	CCDS13593.1	1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420979	0.04734	.	.	ENSG00000186970	ENST00000334067	T	0.02787	4.16	4.48	0.728	0.18260	4.48	0.728	0.18260	.	0.648451	0.14151	N	0.337992	T	0.01421	0.0046	N	0.10916	0.065	0.09310	N	1	B	0.24920	0.114	B	0.31686	0.134	T	0.47573	-0.9107	10	0.02654	T	1	-0.1593	4.0417	0.09755	0.6046:0.2002:0.1952:0.0	.	69	Q3LI76	KR151_HUMAN	S	69	ENSP00000334866:R69S	ENSP00000334866:R69S	R	+	3	2	2	KRTAP15-1	30734723	30734723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.117000	0.18138	-0.331000	0.08364	AGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000				59	57		525	515	1		1			0	0	127	0		1	0	0	0	0	0	0	59	525
KRTAP19-1	337882	broad.mit.edu	37	21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGTAGCCTCCAAAGCCAGA	0.522																																						ENST00000390689.2	0.350000	0.190000	3.100000e-01	2.200000e-01	0.260000	0.272741	0.260000	0.270000																										0				6						c.(178-180)gGa>gTa		keratin associated protein 19-1							217.0	231.0	226.0					21																	31852458		2203	4300	6503	SO:0001583	missense	337882	0	0					g.chr21:31852458C>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.179G>T	chr21.hg19:g.31852458C>A	ENSP00000375108:p.Gly60Val	1						p.G60V	NM_181607.1	NP_853638.1	0	1	1	1.813308	Q8IUB9	KR191_HUMAN		1	205	-			A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	1	1	hg19	c.179G>T	CCDS13594.1	0	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181755	0.06340	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11277	2.79	2.28	1.38	0.22167	2.28	1.38	0.22167	.	0.000000	0.39475	U	0.001353	T	0.12860	0.0312	.	.	.	0.19945	N	0.999949	P	0.45986	0.87	P	0.48400	0.576	T	0.07654	-1.0761	9	0.87932	D	0	.	4.9284	0.13905	0.0:0.8163:0.0:0.1837	.	60	Q8IUB9	KR191_HUMAN	V	60;51	ENSP00000375108:G60V	ENSP00000375108:G60V	G	-	2	0	0	KRTAP19-1	30774329	30774329	0.667000	0.27484	0.004000	0.12327	0.021000	0.10359	1.794000	0.38774	0.500000	0.27991	0.313000	0.20887	GGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2	0	0	1		15	2	2	1		1	1	449		449	439	1	2.060000	-2.218334	0	0.170000				44	42		1722	1647	0		1			1	0	449	0		9.999415e-01	0	0	0	0	0	0	44	1722
KRTAP19-4	337971	broad.mit.edu	37	21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament (GO:0005882)		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473																																						ENST00000334058.2	0.990000	0.690000	9.400000e-01	7.700000e-01	0.850000	0.860286	0.850000	0.870000																										1	Substitution - coding silent(1)	p.C53C(1)	ovary(1)	9						c.(157-159)tgC>tgA		keratin associated protein 19-4							130.0	133.0	132.0					21																	31869270		2203	4300	6503	SO:0001587	stop_gained	337971	0	0					g.chr21:31869270G>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.159C>A	chr21.hg19:g.31869270G>T	ENSP00000335567:p.Cys53*	1						p.C53*	NM_181610.1	NP_853641.1	0	1	1	1.813308	Q3LI73	KR194_HUMAN		1	181	-			Q17RT4|Q17RT6	Nonsense_Mutation	SNP	ENST00000334058.2	0	1	hg19	c.159C>A	CCDS33534.1	1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509738	0.44660	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	2.19	0.27852	4.03	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.35907	D	0.830791	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6235	0.17470	0.109:0.2007:0.6903:0.0	.	.	.	.	X	53	.	ENSP00000335567:C53X	C	-	3	2	2	KRTAP19-4	30791141	30791141	0.015000	0.18098	0.002000	0.10522	0.234000	0.25298	1.132000	0.31418	0.643000	0.30638	0.591000	0.81541	TGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2	1	0	1		2	2	2	0		0	0	195		195	193	1	2.060000	-17.735160	1	0.170000				79	76		893	872	0		1			0	0	195	0		1	0	0	0	0	0	0	79	893
KRTAP20-2	337976	broad.mit.edu	37	21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	36						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547																																						ENST00000330798.2	0.550000	0.240000	4.700000e-01	3.000000e-01	0.380000	0.392503	0.380000	0.380000																										0				8						c.(106-108)Ggc>Tgc		keratin associated protein 20-2							203.0	160.0	175.0					21																	32007688		2203	4300	6503	SO:0001583	missense	337976	0	0					g.chr21:32007688G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.106G>T	chr21.hg19:g.32007688G>T	ENSP00000330746:p.Gly36Cys	1						p.G36C	NM_181616.1	NP_853647.1	0	1	1	1.813308	Q3LI61	KR202_HUMAN		1	134	+				Missense_Mutation	SNP	ENST00000330798.2	1	1	hg19	c.106G>T	CCDS13604.1	0	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931851	0.34096	.	.	ENSG00000184032	ENST00000330798	T	0.19938	2.11	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.32147	U	0.006504	T	0.44329	0.1288	.	.	.	0.21355	N	0.999715	D	0.89917	1.0	D	0.79108	0.992	T	0.24728	-1.0152	9	0.87932	D	0	.	13.2097	0.59817	0.0:0.0:1.0:0.0	.	36	Q3LI61	KR202_HUMAN	C	36	ENSP00000330746:G36C	ENSP00000330746:G36C	G	+	1	0	0	KRTAP20-2	30929559	30929559	0.001000	0.12720	0.402000	0.26371	0.263000	0.26337	0.820000	0.27323	2.593000	0.87608	0.650000	0.86243	GGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3	0	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-3.602695	1	0.170000				23	23		624	600	0		1			0	0	159	0		9.999990e-01	0	0	0	0	0	0	23	624
KRTAP21-1	337977	broad.mit.edu	37	21	32127556	32127556	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	47						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542																																						ENST00000335093.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997545	0.990000	1.000000																										0				7						c.(139-141)ggC>ggA		keratin associated protein 21-1							156.0	135.0	142.0					21																	32127556		2203	4300	6503	SO:0001819	synonymous_variant	337977	0	0					g.chr21:32127556G>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.141C>A	chr21.hg19:g.32127556G>T		1						p.G47G	NM_181619.1	NP_853650.1	0	1	1	1.813308	Q3LI58	KR211_HUMAN		1	190	-				Silent	SNP	ENST00000335093.3	1	1	hg19	c.141C>A	CCDS13606.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2	1	0	1		2	2	2	0		0	0	238		238	235	1	2.060000	-20.000000	1	0.170000				182	174		816	776	1		1			0	0	238	0		1	0	0	0	0	0	0	182	816
KRTAP11-1	337880	broad.mit.edu	37	21	32253481	32253481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	121	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577																																						ENST00000332378.4	1.000000	0.940000	1	9.700000e-01	0.990000	0.992103	0.990000	1.000000																										0				18						c.(361-363)tgC>tgT		keratin associated protein 11-1							62.0	63.0	63.0					21																	32253481		2203	4300	6503	SO:0001819	synonymous_variant	337880	0	0					g.chr21:32253481G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.363C>T	chr21.hg19:g.32253481G>A		1						p.C121C	NM_175858.2	NP_787054.1	0	1	1	1.813308	Q8IUC1	KR111_HUMAN		1	393	-			A1L4I8	Silent	SNP	ENST00000332378.4	1	1	hg19	c.363C>T	CCDS13608.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				83	79		278	274	0		1			0	0	74	0		1	0	0	0	0	0	0	83	278
KRTAP19-8	728299	broad.mit.edu	37	21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	43						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532																																						ENST00000382822.2	1.000000	0.760000	9.900000e-01	8.400000e-01	0.920000	0.920868	0.920000	1.000000																										0				3						c.(127-129)gGc>gAc		keratin associated protein 19-8							90.0	109.0	103.0					21																	32410635		2203	4300	6503	SO:0001583	missense	728299	0	0					g.chr21:32410635C>T	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.128G>A	chr21.hg19:g.32410635C>T	ENSP00000372272:p.Gly43Asp	1						p.G43D	NM_001099219.1	NP_001092689.1	0	1	1	1.813308	Q3LI54	KR198_HUMAN		1	160	-				Missense_Mutation	SNP	ENST00000382822.2	1	1	hg19	c.128G>A	CCDS42917.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296427	0.23650	.	.	ENSG00000206102	ENST00000382822	T	0.21031	2.03	4.05	3.14	0.36123	4.05	3.14	0.36123	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.20563	N	0.999883	D	0.71674	0.998	D	0.65573	0.936	T	0.10337	-1.0634	8	0.87932	D	0	.	6.9701	0.24644	0.0:0.8686:0.0:0.1314	.	43	Q3LI54	KR198_HUMAN	D	43	ENSP00000372272:G43D	ENSP00000372272:G43D	G	-	2	0	0	KRTAP19-8	31332506	31332506	0.002000	0.14202	0.432000	0.26747	0.146000	0.21551	-0.033000	0.12246	1.009000	0.39289	0.505000	0.49811	GGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	1	0	1		2	2	2	0		0	0	192		192	187	1	2.060000	-19.802210	1	0.170000	NM_001099219			75	75		737	721	0		1			0	0	192	0		1	0	0	0	0	0	0	75	737
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					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)			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						CTGTGCCATGCGGGACGCGTG	0.597																																						ENST00000286827.3	1.000000	0.930000	1	9.600000e-01	0.990000	0.989190	0.990000	1.000000																										0				115						c.(4645-4647)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	72.0	75.0		4646	4.9	1.0	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense	7074	4	121412	36				g.chr21:32492816C>T		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.4646G>A	chr21.hg19:g.32492816C>T	ENSP00000286827:p.Arg1549His	1					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	p.R1549H	NM_003253.2	NP_003244.2	0	1	1	1.813308	Q13009	TIAM1_HUMAN		29	5117	-			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	1	1	hg19	c.4646G>A	CCDS13609.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	0	TIAM1	31414687	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.496579	1	0.170000	NM_003253			72	72		264	258	1		1	0		0	0	65	0		1	8.609027e-01	0	0	0	15	0	72	264
TIAM1	7074	broad.mit.edu	37	21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1043	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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						CGCAGATCACCTTGCGCAGCT	0.567																																						ENST00000286827.3	1.000000	0.920000	1	9.600000e-01	0.990000	0.988197	0.990000	1.000000																										0				115						c.(3127-3129)aaG>aaT		T-cell lymphoma invasion and metastasis 1							89.0	82.0	85.0					21																	32526607		2203	4300	6503	SO:0001583	missense	7074	0	0					g.chr21:32526607C>A		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.3129G>T	chr21.hg19:g.32526607C>A	ENSP00000286827:p.Lys1043Asn	1					TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	p.K1043N	NM_003253.2	NP_003244.2	0	1	1	1.813308	Q13009	TIAM1_HUMAN		18	3600	-			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	1	1	hg19	c.3129G>T	CCDS13609.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955449	0.73902	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67865	-0.29;-0.29	6.17	3.4	0.38934	6.17	3.4	0.38934	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.69544	-0.5117	10	0.39692	T	0.17	.	10.7591	0.46253	0.0:0.7469:0.0:0.2531	.	983;983;1043	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1043;884;983	ENSP00000286827:K1043N;ENSP00000441570:K983N	ENSP00000286827:K1043N	K	-	3	2	2	TIAM1	31448478	31448478	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	0.843000	0.27640	0.948000	0.37687	0.655000	0.94253	AAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.598257	1	0.170000	NM_003253			67	66		239	233	1		1	0		0	0	63	0		1	8.428550e-01	0	0	0	14	0	67	239
TIAM1	7074	broad.mit.edu	37	21	32537345	32537345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	975					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)			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						CTGGAGCGGTCTCAGCACTGC	0.512																																						ENST00000286827.3	1.000000	0.870000	1	9.300000e-01	0.980000	0.972525	0.980000	1.000000																										0				115						c.(2923-2925)gaG>gaA		T-cell lymphoma invasion and metastasis 1							78.0	73.0	75.0					21																	32537345		2203	4300	6503	SO:0001819	synonymous_variant	7074	0	0					g.chr21:32537345C>T		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.2925G>A	chr21.hg19:g.32537345C>T		1					TIAM1_ENST00000541036.1_Silent_p.E915E	p.E975E	NM_003253.2	NP_003244.2	0	1	1	1.813308	Q13009	TIAM1_HUMAN		17	3396	-			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	1	1	hg19	c.2925G>A	CCDS13609.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_003253			43	41		199	196	1		1	0		0	0	52	0		1	4.994140e-01	0	0	0	9	0	43	199
TIAM1	7074	broad.mit.edu	37	21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					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)			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						CTGACGAGCCGCATCCCCGGT	0.662																																						ENST00000286827.3	1.000000	0.780000	9.900000e-01	8.600000e-01	0.940000	0.933494	0.940000	1.000000																										0				115						c.(1132-1134)gCg>gTg		T-cell lymphoma invasion and metastasis 1							62.0	69.0	67.0					21																	32624336		2203	4300	6503	SO:0001583	missense	7074	0	0					g.chr21:32624336G>A		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.1133C>T	chr21.hg19:g.32624336G>A	ENSP00000286827:p.Ala378Val	1					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	p.A378V	NM_003253.2	NP_003244.2	0	1	1	1.813308	Q13009	TIAM1_HUMAN		6	1604	-			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	1	1	hg19	c.1133C>T	CCDS13609.1	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465025	0.43839	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.03	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.246207	0.40469	N	0.001093	T	0.23846	0.0577	N	0.17082	0.46	0.36777	D	0.884119	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	.	7.4756	0.27374	0.0909:0.2254:0.6837:0.0	.	378;378;378	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	378;219;378	ENSP00000286827:A378V;ENSP00000441570:A378V	ENSP00000286827:A378V	A	-	2	0	0	TIAM1	31546207	31546207	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	3.223000	0.51231	2.497000	0.84241	0.655000	0.94253	GCG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1		2	2	2	0		0	0	128		128	119	1	2.060000	-3.075755	1	0.170000	NM_003253			63	62		574	564	1		1	0		0	0	128	0		1	1.508479e-01	0	0	0	7	0	63	574
IFNAR2	3455	broad.mit.edu	37	21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000342136.4	+	5	666	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000420068.1_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	114					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)			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)"""	AGAAGGATTCAGCGGGAACAC	0.468																																						ENST00000342136.4	1.000000	0.850000	1	9.200000e-01	0.970000	0.966452	0.970000	1.000000																										0				11						c.(340-342)Agc>Cgc		interferon (alpha, beta and omega) receptor 2	"""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)"						179.0	135.0	149.0					21																	34619141		2203	4300	6503	SO:0001583	missense	3455	0	0					g.chr21:34619141A>C		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.340A>C	chr21.hg19:g.34619141A>C	ENSP00000343957:p.Ser114Arg	1					AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R	p.S114R			0	1	1	1.813308	P48551	INAR2_HUMAN		5	666	+			A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	1	1	hg19	c.340A>C	CCDS13621.1	1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759776	0.31137	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.02	-6.61	0.01818	4.02	-6.61	0.01818	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.463445	0.19627	U	0.109766	T	0.44307	0.1287	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.43327	-0.9398	10	0.02654	T	1	.	17.0179	0.86424	0.1906:0.8094:0.0:0.0	.	114;114;114	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	R	114;114;114;114;114;42;42;138	ENSP00000371699:S114R;ENSP00000384309:S114R;ENSP00000371676:S114R;ENSP00000343957:S114R;ENSP00000343289:S114R;ENSP00000413160:S42R;ENSP00000403569:S42R;ENSP00000402311:S138R	ENSP00000343289:S114R	S	+	1	0	0	IFNAR2	33541011	33541011	0.001000	0.12720	0.000000	0.03702	0.459000	0.32528	-0.095000	0.11077	-1.170000	0.02769	0.533000	0.62120	AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000				34	34		144	144	1		1	1		0	0	50	0		1	1	0	49	0	189	0	34	144
IFNAR2	3455	broad.mit.edu	37	21	34635602	34635602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	449					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)			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)"""	CCCTCTGATGCTATCGTCTCA	0.498																																						ENST00000342136.4	0.490000	0.290000	4.400000e-01	3.300000e-01	0.380000	0.395534	0.380000	0.390000																										0				11						c.(1345-1347)Cta>Tta		interferon (alpha, beta and omega) receptor 2	"""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)"						257.0	258.0	258.0					21																	34635602		2203	4300	6503	SO:0001819	synonymous_variant	3455	1	121412	36				g.chr21:34635602C>T		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.1345C>T	chr21.hg19:g.34635602C>T		1					AP000295.9_ENST00000433395.2_Intron|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L	p.L449L			0	1	1	1.813308	P48551	INAR2_HUMAN		9	1671	+			A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	1	1	hg19	c.1345C>T	CCDS13621.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1	0	0	1		2	2	2	0		0	0	314		314	312	1	2.060000	-4.142744	1	0.170000				56	56		1485	1466	0		1	1		0	0	314	0		1	6.122791e-01	0	8	0	48	0	56	1485
IL10RB	3588	broad.mit.edu	37	21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A	rs387907326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	141	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)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAATGAATACGAAACTTGGAC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21711	0.001		0.0	False		,,,				2504	0.0				Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2	1.000000	0.780000	1	8.600000e-01	0.940000	0.935010	0.940000	1.000000																										0				14						c.(421-423)Gaa>Aaa		interleukin 10 receptor, beta							202.0	195.0	197.0					21																	34652146		2203	4300	6503	SO:0001583	missense	3588	2	121412	40				g.chr21:34652146G>A	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.421G>A	chr21.hg19:g.34652146G>A	ENSP00000290200:p.Glu141Lys	1					AP000295.9_ENST00000433395.2_Silent_p.T268T	p.E141K	NM_000628.4	NP_000619.3	0	1	1	1.813308	Q08334	I10R2_HUMAN		4	529	+			Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	1	1	hg19	c.421G>A	CCDS13623.1	1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991208	0.35131	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.28454	1.61	5.75	2.9	0.33743	5.75	2.9	0.33743	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.717553	0.14025	N	0.346532	T	0.31104	0.0786	M	0.82517	2.595	0.09310	N	1	D;P;D;D	0.56035	0.974;0.946;0.974;0.968	B;B;B;B	0.43701	0.428;0.346;0.428;0.302	T	0.27226	-1.0080	10	0.06757	T	0.87	-5.1489	5.5265	0.16960	0.1686:0.0:0.6735:0.1579	.	143;141;141;141	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	K	141	ENSP00000290200:E141K	ENSP00000290200:E141K	E	+	1	0	0	IL10RB	33574016	33574016	0.003000	0.15002	0.003000	0.11579	0.050000	0.14768	0.371000	0.20450	0.755000	0.32990	0.643000	0.83706	GAA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-18.812730	1	0.170000				63	63		570	563	1		1	1		0	0	143	0		1	1	0	25	0	206	0	63	570
IFNAR1	3454	broad.mit.edu	37	21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	418	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTGAATAAAAGCAGTGTTTTT	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3	1.000000	0.680000	9.800000e-01	7.900000e-01	0.890000	0.888851	0.890000	1.000000																										0				14						c.(1252-1254)aGc>aTc		interferon (alpha, beta and omega) receptor 1	"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"						83.0	88.0	86.0					21																	34725173		2203	4300	6503	SO:0001583	missense	3454	0	0					g.chr21:34725173G>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1253G>T	chr21.hg19:g.34725173G>T	ENSP00000270139:p.Ser418Ile	1					IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	p.S418I	NM_000629.2	NP_000620.2	0	1	1	1.813308	P17181	INAR1_HUMAN		9	1405	+			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	1	1	hg19	c.1253G>T	CCDS13624.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088106	0.36855	.	.	ENSG00000142166	ENST00000416947;ENST00000270139	T;T	0.31769	1.48;1.48	5.38	4.39	0.52855	5.38	4.39	0.52855	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.672052	0.15859	N	0.241111	T	0.52549	0.1741	M	0.73598	2.24	0.35803	D	0.823276	D	0.65815	0.995	D	0.68621	0.959	T	0.59144	-0.7509	10	0.35671	T	0.21	-9.2815	11.7482	0.51832	0.0:0.2872:0.7128:0.0	.	418	P17181	INAR1_HUMAN	I	349;418	ENSP00000395606:S349I;ENSP00000270139:S418I	ENSP00000270139:S418I	S	+	2	0	0	IFNAR1	33647043	33647043	0.998000	0.40836	0.909000	0.35828	0.041000	0.13682	1.209000	0.32357	0.982000	0.38575	0.585000	0.79938	AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-12.602620	1	0.170000				39	39		385	376	1		1	1		0	0	81	0		1	9.999999e-01	0	26	0	230	0	39	385
IFNAR1	3454	broad.mit.edu	37	21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	547					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AGCGAAAGTAAAACAAGTGAA	0.373																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3	1.000000	0.920000	1	9.600000e-01	0.990000	0.986988	0.990000	1.000000																										0				14						c.(1639-1641)aAa>aCa		interferon (alpha, beta and omega) receptor 1	"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"						94.0	99.0	97.0					21																	34727821		2203	4300	6503	SO:0001583	missense	3454	0	0					g.chr21:34727821A>C		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1640A>C	chr21.hg19:g.34727821A>C	ENSP00000270139:p.Lys547Thr	1					IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	p.K547T	NM_000629.2	NP_000620.2	0	1	1	1.813308	P17181	INAR1_HUMAN		11	1792	+			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	1	1	hg19	c.1640A>C	CCDS13624.1	1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612357	0.28712	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48522	0.81;0.94;1.52	5.3	1.68	0.24146	5.3	1.68	0.24146	.	2.586540	0.00929	N	0.002695	T	0.55146	0.1902	M	0.73598	2.24	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.32455	-0.9906	10	0.45353	T	0.12	-8.2839	6.7289	0.23373	0.7204:0.0:0.2796:0.0	.	547	P17181	INAR1_HUMAN	T	478;547;486	ENSP00000395606:K478T;ENSP00000270139:K547T;ENSP00000407406:K486T	ENSP00000270139:K547T	K	+	2	0	0	IFNAR1	33649691	33649691	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.024000	0.30077	0.047000	0.15862	0.533000	0.62120	AAA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				67	67		266	261	1		1	1		0	0	74	0		1	1	0	67	0	201	0	67	266
DNAJC28	54943	broad.mit.edu	37	21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	62	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373																																						ENST00000314399.3	1.000000	0.720000	9.800000e-01	8.100000e-01	0.900000	0.899240	0.900000	1.000000																										0				18						c.(184-186)tgC>tgA		DnaJ (Hsp40) homolog, subfamily C, member 28							192.0	181.0	185.0					21																	34861515		2203	4300	6503	SO:0001587	stop_gained	54943	0	0					g.chr21:34861515G>T	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.186C>A	chr21.hg19:g.34861515G>T	ENSP00000320303:p.Cys62*	1					DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	p.C62*	NM_017833.3	NP_060303.2	0	1	1	1.813308	Q9NX36	DJC28_HUMAN		2	624	-			D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	0	1	hg19	c.186C>A	CCDS13626.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287351	0.80803	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	-1.03	0.10102	5.39	-1.03	0.10102	.	0.140012	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3122	10.0629	0.42286	0.614:0.0:0.386:0.0	.	.	.	.	X	62	.	ENSP00000320303:C62X	C	-	3	2	2	DNAJC28	33783385	33783385	0.960000	0.32886	0.972000	0.41901	0.377000	0.30045	0.143000	0.16115	-0.079000	0.12707	-0.251000	0.11542	TGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3	1	0	1		2	2	2	0		0	0	153		153	152	1	2.060000	-16.478490	1	0.170000				62	62		634	622	0		1	0		0	0	153	0		1	6.782115e-02	0	1	0	4	0	62	634
SON	6651	broad.mit.edu	37	21	34923064	34923064	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000356577.4	+	3	2002	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381679.4_Silent_p.T509T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	509					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)			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						AACCTGTGACGACGACAGAGT	0.582																																						ENST00000356577.4	1.000000	0.830000	1	9.000000e-01	0.960000	0.954316	0.960000	1.000000																										0				72						c.(1525-1527)acG>acA		SON DNA binding protein							138.0	141.0	140.0					21																	34923064		2203	4300	6503	SO:0001819	synonymous_variant	6651	0	0					g.chr21:34923064G>A	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.1527G>A	chr21.hg19:g.34923064G>A		1					SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381679.4_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381692.2_Intron	p.T509T	NM_138927.1	NP_620305	0	1	1	1.813308	P18583	SON_HUMAN		3	2002	+			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	1	1	hg19	c.1527G>A	CCDS13629.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.582	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1		2	2	2	0		0	0	196		196	194	1	2.060000	-19.999990	1	0.170000	NM_138927			83	82		720	713	1		1	1		0	0	196	0		1	9.999985e-01	0	13	0	149	0	83	720
SON	6651	broad.mit.edu	37	21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000356577.4	+	3	6488	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000381679.4_Missense_Mutation_p.V2005I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				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)			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						AAGGTCTGTGGTAAGAAGACG	0.597																																						ENST00000356577.4	1.000000	0.950000	1	9.700000e-01	0.990000	0.993292	0.990000	1.000000																										0				72						c.(6013-6015)Gta>Ata		SON DNA binding protein							78.0	75.0	76.0					21																	34927550		2203	4300	6503	SO:0001583	missense	6651	0	0					g.chr21:34927550G>A	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.6013G>A	chr21.hg19:g.34927550G>A	ENSP00000348984:p.Val2005Ile	1					SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron	p.V2005I	NM_138927.1	NP_620305	0	1	1	1.813308	P18583	SON_HUMAN		3	6488	+			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	1	1	hg19	c.6013G>A	CCDS13629.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.344|9.344	1.063723|1.063723	0.20067|0.20067	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.52|5.52	5.52|5.52	0.82312|0.82312	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.291703|.	0.24525|.	N|.	0.037772|.	T|.	0.31231|.	0.0790|.	N|N	0.08118|0.08118	0|0	0.33302|0.33302	D|D	0.564994|0.564994	B;B;B;B;B|.	0.24823|.	0.063;0.038;0.037;0.112;0.112|.	B;B;B;B;B|.	0.23852|.	0.033;0.015;0.012;0.049;0.033|.	T|.	0.41484|.	-0.9506|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.5444|11.5444	0.50685|0.50685	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	2005;2005;1686;2005;2005|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|X	2005;2005;2005;2005;66|999	ENSP00000348984:V2005I;ENSP00000290239:V2005I;ENSP00000300278:V2005I;ENSP00000371095:V2005I|.	ENSP00000290239:V2005I|.	V|W	+|+	1|3	0|0	0|0	SON|SON	33849420|33849420	33849420|33849420	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.745000|0.745000	0.42441|0.42441	3.285000|3.285000	0.51716|0.51716	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GTA|TGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	0		2	2	2	0		0	0	76		76	0	1	2.060000	-20.000000	1	0.170000	NM_138927			91	0		304	0	1			1		0	0	76	0		0	1	0	71	0	178	0	91	304
CRYZL1	9946	broad.mit.edu	37	21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000381554.3	-	3	207	c.122C>T	c.(121-123)gCt>gTt	p.A41V	CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	41					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308																																						ENST00000381554.3	1.000000	0.870000	1	9.300000e-01	0.980000	0.972303	0.980000	1.000000																										0				3						c.(121-123)gCt>gTt		crystallin, zeta (quinone reductase)-like 1							102.0	102.0	102.0					21																	34997011		2202	4300	6502	SO:0001583	missense	9946	0	0					g.chr21:34997011G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.122C>T	chr21.hg19:g.34997011G>A	ENSP00000370966:p.Ala41Val	1					AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V	p.A41V	NM_145858.2	NP_665857.2	0	1	1	1.813308	O95825	QORL1_HUMAN		3	207	-			B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	1	1	hg19	c.122C>T	CCDS13633.2	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982314	0.74474	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.50548	3.45;0.74;3.45;0.74;3.45;3.45;3.45	5.05	5.05	0.67936	5.05	5.05	0.67936	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.176366	0.48286	D	0.000196	T	0.72153	0.3425	M	0.90082	3.085	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	T	0.78478	-0.2188	10	0.72032	D	0.01	-21.5229	14.2943	0.66302	0.0:0.0:1.0:0.0	.	41;41;65	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	41;41;41;41;65;41;41;41	ENSP00000370966:A41V;ENSP00000290244:A41V;ENSP00000370951:A41V;ENSP00000399730:A41V;ENSP00000355075:A65V;ENSP00000405510:A41V;ENSP00000389209:A41V	ENSP00000290244:A41V	A	-	2	0	0	CRYZL1	33918881	33918881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.861000	0.56002	2.503000	0.84419	0.591000	0.81541	GCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.308	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-19.999930	1	0.170000	NM_145858			47	47		242	236	1		1	1		0	0	103	0		1	9.999929e-01	0	34	0	60	0	47	242
ITSN1	6453	broad.mit.edu	37	21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				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)			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						CCTCAACCTGTTTTAGCACAG	0.279																																						ENST00000381318.3	1.000000	0.920000	1	9.600000e-01	0.990000	0.986666	0.990000	1.000000																										0				67						c.(169-171)gTt>gCt		intersectin 1 (SH3 domain protein)							68.0	72.0	71.0					21																	35094941		2202	4295	6497	SO:0001583	missense	6453	0	0					g.chr21:35094941T>C	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.170T>C	chr21.hg19:g.35094941T>C	ENSP00000370719:p.Val57Ala	1					ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A	p.V57A	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		4	458	+			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	1	1	hg19	c.170T>C	CCDS33545.1	1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594035	0.66219	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;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;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.9	5.9	0.94986	5.9	5.9	0.94986	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.119758	0.56097	D	0.000027	T	0.55970	0.1954	M	0.75264	2.295	0.58432	D	0.999996	P;P;P;P;D;P;P;P;P	0.65815	0.528;0.528;0.528;0.528;0.995;0.528;0.528;0.719;0.528	P;B;B;B;D;B;B;P;B	0.68039	0.491;0.414;0.414;0.414;0.955;0.414;0.414;0.494;0.414	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9811	0.80111	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57;57	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	57	ENSP00000382290:V57A;ENSP00000400079:V57A;ENSP00000370719:V57A;ENSP00000370691:V57A;ENSP00000370685:V57A;ENSP00000382301:V57A;ENSP00000382289:V57A;ENSP00000382292:V57A;ENSP00000382286:V57A;ENSP00000407132:V57A;ENSP00000370683:V57A;ENSP00000382275:V57A;ENSP00000387377:V57A;ENSP00000382265:V57A;ENSP00000369294:V57A	ENSP00000369294:V57A	V	+	2	0	0	ITSN1	34016811	34016811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.331000	0.72929	2.248000	0.74166	0.459000	0.35465	GTT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.279	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_003024			55	55		152	147	1		1	1		0	0	31	0		1	9.993015e-01	0	13	0	21	0	55	152
ITSN1	6453	broad.mit.edu	37	21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	992					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)			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						TAGTCTAAAGCGAGTAGCCTC	0.423																																						ENST00000381318.3	1.000000	0.570000	9.600000e-01	7.100000e-01	0.850000	0.840322	0.850000	1.000000																										0				67						c.(2974-2976)Cga>Tga		intersectin 1 (SH3 domain protein)							54.0	57.0	56.0					21																	35191585		2203	4300	6503	SO:0001587	stop_gained	6453	0	0					g.chr21:35191585C>T	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.2974C>T	chr21.hg19:g.35191585C>T	ENSP00000370719:p.Arg992*	1					ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR	p.R992*	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		24	3262	+			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	0	1	hg19	c.2974C>T	CCDS33545.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.875900	0.99482	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	.	.	.	5.56	3.17	0.36434	5.56	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4925	0.55907	0.7237:0.2763:0.0:0.0	.	.	.	.	X	950;992;992;992;992;987;987;987;992;987;987;987	.	ENSP00000370685:R992X	R	+	1	2	2	ITSN1	34113455	34113455	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.377000	0.44300	0.384000	0.24942	-0.500000	0.04577	CGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-8.615048	1	0.170000	NM_003024			20	20		203	198	0		1	0		0	0	50	0		9.999954e-01	9.444546e-01	0	1	0	50	0	20	203
ITSN1	6453	broad.mit.edu	37	21	35202044	35202044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399349.1_Silent_p.L1040L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000381285.4_Silent_p.L1116L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1116	SH3 4. {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)			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						GGAAGGAGAGCTGCAAGTCAG	0.463																																						ENST00000381318.3	1.000000	0.940000	1	9.700000e-01	0.990000	0.993199	0.990000	1.000000																										0				67						c.(3346-3348)Ctg>Ttg		intersectin 1 (SH3 domain protein)							101.0	111.0	108.0					21																	35202044		2203	4300	6503	SO:0001819	synonymous_variant	6453	0	0					g.chr21:35202044C>T	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.3346C>T	chr21.hg19:g.35202044C>T		1					ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000379960.5_3'UTR	p.L1116L	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		27	3634	+			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	1	1	hg19	c.3346C>T	CCDS33545.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_003024			101	97		408	398	1		1	1		0	0	98	0		1	9.999395e-01	0	15	0	44	0	101	408
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	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.D1214H(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						GCTGACCACAGACATGGACCC	0.522																																						ENST00000381318.3	0.960000	0.480000	8.600000e-01	5.900000e-01	0.720000	0.732341	0.720000	0.720000																										1	Substitution - Missense(1)	p.D1214H(1)	lung(1)	67						c.(3640-3642)Gac>Tac		intersectin 1 (SH3 domain protein)							104.0	94.0	98.0					21																	35208915		2203	4300	6503	SO:0001583	missense	6453	0	0					g.chr21:35208915G>T	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.3640G>T	chr21.hg19:g.35208915G>T	ENSP00000370719:p.Asp1214Tyr	1					ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000379960.5_3'UTR	p.D1214Y	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		29	3928	+			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	1	1	hg19	c.3640G>T	CCDS33545.1	0	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;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;1.55	4.51	4.51	0.55191	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41824	1.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.981;1.0;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.954;0.986;0.994;0.968;0.927;0.996;0.998	T	0.52653	-0.8547	10	0.87932	D	0	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172Y;ENSP00000370719:D1214Y;ENSP00000370691:D1214Y;ENSP00000370685:D1214Y;ENSP00000382301:D1209Y;ENSP00000382289:D1209Y;ENSP00000382292:D1143Y;ENSP00000382286:D1138Y;ENSP00000387377:D1209Y	ENSP00000370685:D1214Y	D	+	1	0	0	ITSN1	34130785	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_003024			25	24		339	336	0		1	0		0	0	87	0		9.999998e-01	9.558239e-01	0	1	0	71	0	25	339
ITSN1	6453	broad.mit.edu	37	21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1322	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)			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						TGAGCGCACAGCTGCCGCACA	0.602																																						ENST00000381318.3	1.000000	0.720000	1	8.400000e-01	0.940000	0.924146	0.940000	1.000000																										0				67						c.(3964-3966)caG>caT		intersectin 1 (SH3 domain protein)							50.0	38.0	42.0					21																	35237530		2203	4300	6503	SO:0001583	missense	6453	0	0					g.chr21:35237530G>T	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.3966G>T	chr21.hg19:g.35237530G>T	ENSP00000370719:p.Gln1322His	1					ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399326.3_3'UTR	p.Q1322H	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		32	4254	+			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	1	1	hg19	c.3966G>T	CCDS33545.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.784119|3.784119	0.70222|0.70222	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.27557	.|1.66;1.66;1.66;1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.98;0.98	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.40728	.|T	.|0.16	.|.	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1317;1322	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	S|H	58|1322;1322;1251;1317;1317	.|ENSP00000370719:Q1322H;ENSP00000370685:Q1322H;ENSP00000382301:Q1317H;ENSP00000387377:Q1317H	.|ENSP00000370685:Q1322H	A|Q	+|+	1|3	0|2	0|2	ITSN1|ITSN1	34159400|34159400	34159400|34159400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.200000|5.200000	0.65158|0.65158	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	GCT|CAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_003024			20	20		117	116	1		1			0	0	30	0		9.999970e-01	0	0	0	0	0	0	20	117
ITSN1	6453	broad.mit.edu	37	21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1428					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)			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						GGGAGAAGGAGAACTCTGACC	0.637																																						ENST00000381318.3	1.000000	0.940000	1	9.700000e-01	0.990000	0.992141	0.990000	1.000000																										0				67						c.(4282-4284)gaG>gaT		intersectin 1 (SH3 domain protein)							96.0	87.0	90.0					21																	35247768		2203	4300	6503	SO:0001583	missense	6453	0	0					g.chr21:35247768G>T	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.4284G>T	chr21.hg19:g.35247768G>T	ENSP00000370719:p.Glu1428Asp	1					ITSN1_ENST00000437442.2_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|ITSN1_ENST00000399326.3_3'UTR	p.E1428D	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		34	4572	+			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	1	1	hg19	c.4284G>T	CCDS33545.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985555	0.74589	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.59	3.79	0.43588	5.59	3.79	0.43588	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.61387	1.9	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.44990	0.466;0.466	T	0.28170	-1.0052	10	0.46703	T	0.11	.	9.1763	0.37114	0.2853:0.0:0.7147:0.0	.	1423;1428	A8CTX8;Q15811	.;ITSN1_HUMAN	D	1428;1428;1357;1423;35	ENSP00000370719:E1428D;ENSP00000370685:E1428D;ENSP00000382301:E1423D;ENSP00000409800:E35D	ENSP00000370685:E1428D	E	+	3	2	2	ITSN1	34169638	34169638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.788000	0.26872	0.717000	0.32145	0.655000	0.94253	GAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000	NM_003024			94	93		386	377	1		1			0	0	116	0		1	0	0	0	0	0	0	94	386
ITSN1	6453	broad.mit.edu	37	21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1515	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						AGTATAAAATGTATAAAACAG	0.433																																						ENST00000381318.3	1.000000	0.870000	1	9.400000e-01	0.980000	0.975002	0.980000	1.000000																										0				67						c.(4543-4545)atG>atA		intersectin 1 (SH3 domain protein)							47.0	48.0	48.0					21																	35254750		2203	4300	6503	SO:0001583	missense	6453	0	0					g.chr21:35254750G>A	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.4545G>A	chr21.hg19:g.35254750G>A	ENSP00000370719:p.Met1515Ile	1					ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|ITSN1_ENST00000399326.3_3'UTR	p.M1515I	NM_003024.2	NP_003015.2	0	1	1	1.813308	Q15811	ITSN1_HUMAN		35	4833	+			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	1	1	hg19	c.4545G>A	CCDS33545.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.033321|4.033321	0.75504|0.75504	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07|.	5.8|5.8	5.8|5.8	0.92144|0.92144	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61080|.	0.989;0.943;0.943|.	D;D;D|.	0.75020|.	0.985;0.968;0.968|.	T|T	0.69343|0.69343	-0.5170|-0.5170	9|5	.|.	.|.	.|.	.|.	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1454;1510;1515|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	I|I	1515;1515;1444;1510;1454|195	ENSP00000370719:M1515I;ENSP00000370685:M1515I;ENSP00000382301:M1510I;ENSP00000387377:M1454I|.	.|.	M|V	+|+	3|1	0|0	0|0	ITSN1|ITSN1	34176620|34176620	34176620|34176620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.433000|7.433000	0.80362|0.80362	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATG|GTA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	0	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_003024			41	41		159	155	1		1			0	0	45	0		1	0	0	0	0	0	0	41	159
SLC5A3	6526	broad.mit.edu	37	21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T	rs370576963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	69					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGGGCTGGCAGGATCTGGA	0.498																																						ENST00000381151.3	0.790000	0.370000	6.800000e-01	4.600000e-01	0.560000	0.579940	0.560000	0.560000																										0				20						c.(205-207)gCa>gTa		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3		C	VAL/ALA,	0,4406		0,0,2203	137.0	130.0	132.0		206,	5.9	1.0	21		132	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SLC5A3,MRPS6	NM_006933.4,NM_032476.3	64,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	69/719,	35467703	1,13005	2203	4300	6503	SO:0001583	missense	6526	0	0					g.chr21:35467703C>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.206C>T	chr21.hg19:g.35467703C>T	ENSP00000370543:p.Ala69Val	1					MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V	p.A69V			0	1	1	1.813308	P53794	SC5A3_HUMAN		2	718	+			O43489	Missense_Mutation	SNP	ENST00000381151.3	1	1	hg19	c.206C>T	CCDS33549.1	0	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004086	0.74932	0.0	1.16E-4	ENSG00000198743	ENST00000381151	D	0.90788	-2.73	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.053770	0.64402	D	0.000001	D	0.96537	0.8870	M	0.91561	3.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	10	0.87932	D	0	.	18.8931	0.92413	0.0:1.0:0.0:0.0	.	69	P53794	SC5A3_HUMAN	V	69	ENSP00000370543:A69V	ENSP00000370543:A69V	A	+	2	0	0	SLC5A3	34389573	34389573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.609000	0.83330	GCA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-5.507358	1	0.170000				25	24		446	440	0		1	1		0	0	71	0		9.999998e-01	5.241548e-01	0	6	0	26	0	25	446
SLC5A3	6526	broad.mit.edu	37	21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	637					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAAGCAGCTCTCATGGG	0.478																																						ENST00000381151.3	1.000000	0.660000	9.700000e-01	7.700000e-01	0.880000	0.874225	0.880000	1.000000																										0				20						c.(1909-1911)Gct>Tct		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							82.0	76.0	78.0					21																	35469406		2203	4300	6503	SO:0001583	missense	6526	0	0					g.chr21:35469406G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1909G>T	chr21.hg19:g.35469406G>T	ENSP00000370543:p.Ala637Ser	1					MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S	p.A637S			0	1	1	1.813308	P53794	SC5A3_HUMAN		2	2421	+			O43489	Missense_Mutation	SNP	ENST00000381151.3	1	1	hg19	c.1909G>T	CCDS33549.1	1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163213	0.38217	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	6.06	5.18	0.71444	6.06	5.18	0.71444	.	0.480265	0.18467	N	0.140345	T	0.76133	0.3945	N	0.22421	0.69	0.30363	N	0.783593	B	0.12013	0.005	B	0.14023	0.01	T	0.66991	-0.5783	10	0.18710	T	0.47	.	14.7718	0.69684	0.0693:0.0:0.9307:0.0	.	637	P53794	SC5A3_HUMAN	S	637	ENSP00000370543:A637S	ENSP00000370543:A637S	A	+	1	0	0	SLC5A3	34391276	34391276	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	5.336000	0.65935	1.582000	0.49881	0.643000	0.83706	GCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-12.105160	1	0.170000				38	36		391	382	1		1	1		0	0	110	0		1	9.850486e-01	0	11	0	59	0	38	391
KCNE2	9992	broad.mit.edu	37	21	35742840	35742840	+	Silent	SNP	T	T	G	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	21					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433																																						ENST00000290310.3	1.000000	0.790000	1	8.800000e-01	0.950000	0.943301	0.950000	1.000000																										0				2						c.(61-63)acT>acG		potassium voltage-gated channel, Isk-related family, member 2							99.0	107.0	105.0					21																	35742840		2203	4300	6503	SO:0001819	synonymous_variant	9992	0	0					g.chr21:35742840T>G	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.63T>G	chr21.hg19:g.35742840T>G		1					AP000320.6_ENST00000440403.1_RNA	p.T21T	NM_172201.1	NP_751951.1	0	1	1	1.813308	Q9Y6J6	KCNE2_HUMAN		2	203	+			A5H1P3|D3DSF8|Q52LJ5	Silent	SNP	ENST00000290310.3	1	1	hg19	c.63T>G	CCDS13635.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				51	50		416	409	0		1			0	0	96	0		1	0	0	0	0	0	0	51	416
KCNE1	3753	broad.mit.edu	37	21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	87			W -> R (in LQT5). {ECO:0000269|PubMed:10400998}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552																																						ENST00000337385.3	1.000000	0.940000	1	9.700000e-01	0.990000	0.993108	0.990000	1.000000																										0				7						c.(259-261)tgG>tgA		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)						96.0	95.0	96.0					21																	35821672		2203	4300	6503	SO:0001587	stop_gained	3753	0	0					g.chr21:35821672C>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.261G>A	chr21.hg19:g.35821672C>T	ENSP00000337255:p.Trp87*	1					KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*	p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	0	1	1	1.813308	P15382	KCNE1_HUMAN		3	636	-			A5H1P2|Q8N709|Q91Z94	Nonsense_Mutation	SNP	ENST00000337385.3	0	1	hg19	c.261G>A	CCDS13636.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735347	0.89482	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	.	.	.	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2752	18.2469	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000337255:W87X	W	-	3	0	0	KCNE1	34743542	34743542	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.189000	0.72051	2.398000	0.81561	0.591000	0.81541	TGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000				92	91		323	312	1		1			0	0	83	0		1	0	0	0	0	0	0	92	323
RCAN1	1827	broad.mit.edu	37	21	35890400	35890400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000313806.4	-	4	871	c.741G>A	c.(739-741)acG>acA	p.T247T	RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000481448.1_Silent_p.T237T|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000487990.1_Silent_p.T112T	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	247					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTGGATCGGCGTGTACTCCG	0.498																																						ENST00000313806.4	0.770000	0.420000	6.900000e-01	5.000000e-01	0.580000	0.598726	0.580000	0.590000																										0				5						c.(739-741)acG>acA		regulator of calcineurin 1							178.0	157.0	164.0					21																	35890400		2203	4300	6503	SO:0001819	synonymous_variant	1827	2	121412	35				g.chr21:35890400C>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.741G>A	chr21.hg19:g.35890400C>T		1					RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000481448.1_Silent_p.T237T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000399272.1_Silent_p.T166T	p.T247T	NM_004414.5	NP_004405.3	0	1	1	1.813308	P53805	RCAN1_HUMAN		4	871	-			D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	1	1	hg19	c.741G>A	CCDS13637.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1	1	0	1		2	2	2	0		0	0	153		153	149	1	2.060000	-6.376032	1	0.170000				40	41		686	676	0		1	1		0	0	153	0		1	9.988305e-01	0	4	0	169	0	40	686
CLIC6	54102	broad.mit.edu	37	21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	695	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378																																						ENST00000360731.3	1.000000	0.950000	1	9.800000e-01	0.990000	0.993937	0.990000	1.000000																										0				19						c.(2083-2085)Gca>Aca		chloride intracellular channel 6							118.0	114.0	115.0					21																	36088748		2203	4300	6503	SO:0001583	missense	54102	2	121410	35				g.chr21:36088748G>A	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2083G>A	chr21.hg19:g.36088748G>A	ENSP00000353959:p.Ala695Thr	1					CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T	p.A695T			0	1	1	1.813308	Q96NY7	CLIC6_HUMAN		7	2083	+			A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	1	1	hg19	c.2083G>A		1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339592	0.81911	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	5.85	0.93711	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96494	0.9366	10	0.59425	D	0.04	-12.539	20.1542	0.98100	0.0:0.0:1.0:0.0	.	695;677	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	695;677	ENSP00000353959:A695T;ENSP00000290332:A677T	ENSP00000290332:A677T	A	+	1	0	0	CLIC6	35010618	35010618	1.000000	0.71417	0.270000	0.24601	0.967000	0.64934	9.835000	0.99442	2.767000	0.95098	0.563000	0.77884	GCA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-6.526523	1	0.170000				87	87		230	224	1		1	0		0	0	65	0		1	9.999376e-01	0	0	0	41	0	87	230
SETD4	54093	broad.mit.edu	37	21	37410520	37410520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Silent_p.E372E			Q9NVD3	SETD4_HUMAN	SET domain containing 4	372				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACTTGTCTTCTCATTCGTAT	0.353																																						ENST00000399215.1	1.000000	0.780000	1	8.700000e-01	0.940000	0.936631	0.940000	1.000000																										0				15						c.(1114-1116)gaG>gaA		SET domain containing 4							178.0	173.0	175.0					21																	37410520		2202	4300	6502	SO:0001819	synonymous_variant	54093	0	0					g.chr21:37410520C>T	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.1116G>A	chr21.hg19:g.37410520C>T		1					AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000332131.4_Silent_p.E372E|SETD4_ENST00000481477.1_5'UTR	p.E372E			0	1	1	1.813308	Q9NVD3	SETD4_HUMAN		9	2488	-			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	1	1	hg19	c.1116G>A	CCDS13640.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	0	0	1		14	2	2	1		1	1	151		151	151	1	2.060000	-18.380990	1	0.170000	NM_017438			58	58		511	492	1		1	0		1	0	151	0		1	2.770417e-01	0	1	0	9	0	58	511
SETD4	54093	broad.mit.edu	37	21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*			Q9NVD3	SETD4_HUMAN	SET domain containing 4	285							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GAAACAAATCCGTATTCCAGG	0.378																																						ENST00000399215.1	0.990000	0.470000	9.000000e-01	6.000000e-01	0.750000	0.756747	0.750000	0.760000																										0				15						c.(853-855)Gga>Tga		SET domain containing 4							117.0	98.0	104.0					21																	37416128		2203	4300	6503	SO:0001587	stop_gained	54093	0	0					g.chr21:37416128C>A	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.853G>T	chr21.hg19:g.37416128C>A	ENSP00000382163:p.Gly285*	1					SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*	p.G285*			0	1	1	1.813308	Q9NVD3	SETD4_HUMAN		6	2225	-			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Nonsense_Mutation	SNP	ENST00000399215.1	0	1	hg19	c.853G>T	CCDS13640.1	0	.	.	.	.	.	.	.	.	.	.	C	48	13.959075	0.99772	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3083	19.7767	0.96398	0.0:1.0:0.0:0.0	.	.	.	.	X	285;261;285;261;285;261;285	.	ENSP00000329189:G285X	G	-	1	0	0	SETD4	36337998	36337998	1.000000	0.71417	0.821000	0.32701	0.067000	0.16453	6.948000	0.75965	2.751000	0.94390	0.555000	0.69702	GGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.415757	0	0.170000	NM_017438			17	17		213	208	1		1	1		0	0	56	0		9.999648e-01	7.934570e-01	0	10	0	29	0	17	213
SETD4	54093	broad.mit.edu	37	21	37420647	37420647	+	Silent	SNP	C	C	T	rs200791231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399207.1_Silent_p.T85T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	85	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.001					ENST00000399215.1	1.000000	0.860000	1	9.200000e-01	0.970000	0.965722	0.970000	1.000000																										0				15						c.(253-255)acG>acA		SET domain containing 4							373.0	309.0	331.0					21																	37420647		2203	4300	6503	SO:0001819	synonymous_variant	54093	3	121412	41				g.chr21:37420647C>T	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.255G>A	chr21.hg19:g.37420647C>T		1					SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399207.1_Silent_p.T85T	p.T85T			0	1	1	1.813308	Q9NVD3	SETD4_HUMAN		4	1627	-			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	1	1	hg19	c.255G>A	CCDS13640.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.478	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	0	0	1		2	2	2	0		0	0	303		303	301	1	2.060000	-2.559126	1	0.170000	NM_017438			124	124		1090	1075	1		1	1		0	0	303	0		1	9.458558e-01	0	3	0	41	0	124	1090
DOPEY2	9980	broad.mit.edu	37	21	37537005	37537005	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	ENST00000399151.3	+	2	59		c.e2-1			NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2						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)				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						TTTGCTTTTAGATACTTTTCT	0.393																																						ENST00000399151.3	1.000000	0.730000	1	8.400000e-01	0.930000	0.924980	0.930000	1.000000																										0				58						c.e2-1		dopey family member 2							43.0	43.0	43.0					21																	37537005		2203	4300	6503	SO:0001630	splice_region_variant	9980	0	0					g.chr21:37537005G>T	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.-26-1G>T	chr21.hg19:g.37537005G>T		1							NM_005128.2	NP_005119.2	0	1	1	1.813308	Q9Y3R5	DOP2_HUMAN		2	59	+			D3DSG5|Q6PJQ7|Q9UEZ3	Splice_Site	SNP	ENST00000399151.3	1	1	hg19		CCDS13643.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_005128	Intron		27	27		194	190	1		1			0	0	36	0		1	0	0	0	0	0	0	27	194
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A	rs573603717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					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)				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						CCCTTCCCACGACCTGCAGGA	0.662																																						ENST00000399151.3	1.000000	0.940000	1	9.700000e-01	0.990000	0.992525	0.990000	1.000000																										0				58						c.(3400-3402)Gac>Aac		dopey family member 2							124.0	85.0	98.0					21																	37617678		2203	4300	6503	SO:0001583	missense	9980	0	0					g.chr21:37617678G>A	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.3400G>A	chr21.hg19:g.37617678G>A	ENSP00000382104:p.Asp1134Asn	1						p.D1134N	NM_005128.2	NP_005119.2	0	1	1	1.813308	Q9Y3R5	DOP2_HUMAN		19	3485	+			D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	1	1	hg19	c.3400G>A	CCDS13643.1	1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432271	0.43122	.	.	ENSG00000142197	ENST00000399151	T	0.28666	1.6	5.55	2.74	0.32292	5.55	2.74	0.32292	.	0.476618	0.26227	N	0.025593	T	0.25938	0.0632	L	0.50333	1.59	0.35569	D	0.805348	B;B	0.20550	0.046;0.027	B;B	0.11329	0.006;0.003	T	0.16867	-1.0388	10	0.59425	D	0.04	.	8.2768	0.31877	0.1344:0.0:0.7372:0.1284	.	1134;1134	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	1134	ENSP00000382104:D1134N	ENSP00000382104:D1134N	D	+	1	0	0	DOPEY2	36539548	36539548	0.998000	0.40836	0.432000	0.26747	0.858000	0.48976	2.887000	0.48586	0.385000	0.24970	0.650000	0.86243	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_005128			88	85		310	299	1		1	1		0	0	78	0		1	9.999168e-01	0	5	0	46	0	88	310
DOPEY2	9980	broad.mit.edu	37	21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1168					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)				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						CTTCCAGTCAGAAAGCTTCAA	0.637																																						ENST00000399151.3	1.000000	0.910000	1	9.500000e-01	0.990000	0.984225	0.990000	1.000000																										0				58						c.(3502-3504)Gaa>Aaa		dopey family member 2							36.0	40.0	38.0					21																	37617780		2203	4300	6503	SO:0001583	missense	9980	0	0					g.chr21:37617780G>A	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.3502G>A	chr21.hg19:g.37617780G>A	ENSP00000382104:p.Glu1168Lys	1						p.E1168K	NM_005128.2	NP_005119.2	0	1	1	1.813308	Q9Y3R5	DOP2_HUMAN		19	3587	+			D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	1	1	hg19	c.3502G>A	CCDS13643.1	1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443183	0.12164	.	.	ENSG00000142197	ENST00000399151	T	0.32988	1.43	4.61	3.65	0.41850	4.61	3.65	0.41850	.	0.412728	0.20393	N	0.093212	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.26770	0.073;0.033	T	0.11916	-1.0568	10	0.10111	T	0.7	.	9.0698	0.36486	0.0813:0.1495:0.7692:0.0	.	1168;1168	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1168	ENSP00000382104:E1168K	ENSP00000382104:E1168K	E	+	1	0	0	DOPEY2	36539650	36539650	0.790000	0.28787	0.010000	0.14722	0.014000	0.08584	2.759000	0.47573	2.575000	0.86900	0.650000	0.86243	GAA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-3.640429	1	0.170000	NM_005128			59	57		236	231	1		1	1		0	0	64	0		1	9.695532e-01	0	4	0	21	0	59	236
DOPEY2	9980	broad.mit.edu	37	21	37617836	37617836	+	Silent	SNP	G	G	A	rs529578047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1186					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)				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						CGGACAAGACGCAGGCTTCTG	0.642																																						ENST00000399151.3	1.000000	0.900000	1	9.500000e-01	0.980000	0.980798	0.980000	1.000000																										0				58						c.(3556-3558)acG>acA		dopey family member 2							38.0	40.0	40.0					21																	37617836		2203	4300	6503	SO:0001819	synonymous_variant	9980	0	0					g.chr21:37617836G>A	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.3558G>A	chr21.hg19:g.37617836G>A		1						p.T1186T	NM_005128.2	NP_005119.2	0	1	1	1.813308	Q9Y3R5	DOP2_HUMAN		19	3643	+			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	1	1	hg19	c.3558G>A	CCDS13643.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_005128			52	51		213	213	1		1	1		0	0	59	0		1	9.856585e-01	0	7	0	23	0	52	213
DOPEY2	9980	broad.mit.edu	37	21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1654					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)				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						CTAGGGGCCACGAAGGGATCC	0.448																																						ENST00000399151.3	1.000000	0.920000	1	9.600000e-01	0.990000	0.986582	0.990000	1.000000																										0				58						c.(4960-4962)aCg>aTg		dopey family member 2							86.0	79.0	82.0					21																	37620829		2203	4300	6503	SO:0001583	missense	9980	0	0					g.chr21:37620829C>T	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.4961C>T	chr21.hg19:g.37620829C>T	ENSP00000382104:p.Thr1654Met	1						p.T1654M	NM_005128.2	NP_005119.2	0	1	1	1.813308	Q9Y3R5	DOP2_HUMAN		21	5046	+			D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	1	1	hg19	c.4961C>T	CCDS13643.1	1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.089986	0.07053	.	.	ENSG00000142197	ENST00000399151	T	0.12774	2.65	5.46	3.66	0.41972	5.46	3.66	0.41972	.	0.301120	0.41294	N	0.000907	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	0.999994	B;B	0.22851	0.076;0.046	B;B	0.20577	0.03;0.013	T	0.16453	-1.0402	10	0.49607	T	0.09	-11.577	8.6367	0.33953	0.0:0.769:0.0:0.231	.	1654;1654	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	1654	ENSP00000382104:T1654M	ENSP00000382104:T1654M	T	+	2	0	0	DOPEY2	36542699	36542699	0.856000	0.29760	0.029000	0.17559	0.033000	0.12548	1.698000	0.37794	0.697000	0.31718	0.650000	0.86243	ACG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_005128			62	60		224	221	1		1	1		0	0	68	0		1	9.995031e-01	0	13	0	31	0	62	224
MORC3	23515	broad.mit.edu	37	21	37717329	37717329	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	335					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)			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						GTCAGTTAAGGGTAAGCTTTA	0.284																																						ENST00000400485.1	0.810000	0.220000	6.400000e-01	3.300000e-01	0.470000	0.494528	0.470000	0.450000																										0				35						c.(1003-1005)agG>agT		MORC family CW-type zinc finger 3							67.0	66.0	66.0					21																	37717329		1805	4070	5875	SO:0001630	splice_region_variant	23515	0	0					g.chr21:37717329G>T	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.1005+1G>T	chr21.hg19:g.37717329G>T		1					MORC3_ENST00000487909.1_3'UTR	p.R335S	NM_015358.2	NP_056173.1	0	1	1	1.813308	Q14149	MORC3_HUMAN		8	1081	+			A8KA92|Q9UEZ2	Splice_Site	SNP	ENST00000400485.1	1	0	hg19	c.1005G>T	CCDS42924.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010232	0.75046	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.299915	0.40640	N	0.001045	T	0.09291	0.0229	N	0.04508	-0.205	0.80722	D	1	B	0.23185	0.081	B	0.21546	0.035	T	0.29427	-1.0012	10	0.62326	D	0.03	-11.3544	19.4173	0.94706	0.0:0.0:1.0:0.0	.	335	Q14149	MORC3_HUMAN	S	335	ENSP00000383333:R335S	ENSP00000383333:R335S	R	+	3	2	2	MORC3	36639199	36639199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.798000	0.85924	2.588000	0.87417	0.655000	0.94253	AGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.284	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.123498	1	0.170000	NM_015358	Missense_Mutation		8	8		175	170	0		1	1		0	0	40	0		9.886348e-01	8.034120e-01	0	4	0	64	0	8	175
MORC3	23515	broad.mit.edu	37	21	37741529	37741529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	621					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)			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						CTTGTGGCCAGACTGGTTCAA	0.453																																						ENST00000400485.1	1.000000	0.950000	1	9.800000e-01	0.990000	0.994264	0.990000	1.000000																										0				35						c.(1861-1863)caG>caA		MORC family CW-type zinc finger 3							223.0	221.0	222.0					21																	37741529		2154	4253	6407	SO:0001819	synonymous_variant	23515	0	0					g.chr21:37741529G>A	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.1863G>A	chr21.hg19:g.37741529G>A		1					MORC3_ENST00000487909.1_3'UTR	p.Q621Q	NM_015358.2	NP_056173.1	0	1	1	1.813308	Q14149	MORC3_HUMAN		15	1939	+			A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	1	1	hg19	c.1863G>A	CCDS42924.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_015358			106	104		399	392	1		1	1		0	0	112	0		1	9.999985e-01	0	20	0	54	0	106	399
CHAF1B	8208	broad.mit.edu	37	21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	105					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)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGAGCAGATCGCTTTTCAGGA	0.517																																						ENST00000314103.5	1.000000	0.690000	9.900000e-01	8.100000e-01	0.920000	0.907427	0.920000	1.000000																										0				20						c.(313-315)Gct>Act		chromatin assembly factor 1, subunit B (p60)							116.0	100.0	105.0					21																	37763902		2203	4300	6503	SO:0001583	missense	8208	0	0					g.chr21:37763902G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.313G>A	chr21.hg19:g.37763902G>A	ENSP00000315700:p.Ala105Thr	1					CHAF1B_ENST00000480486.1_3'UTR	p.A105T	NM_005441.2	NP_005432.1	0	1	1	1.813308	Q13112	CAF1B_HUMAN		4	464	+			Q99548	Missense_Mutation	SNP	ENST00000314103.5	1	1	hg19	c.313G>A	CCDS13644.1	1	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932325	0.18131	.	.	ENSG00000159259	ENST00000314103	T	0.56275	0.47	5.18	4.3	0.51218	5.18	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481323	0.24363	N	0.039173	T	0.33585	0.0868	N	0.17764	0.52	0.22500	N	0.999043	B	0.10296	0.003	B	0.06405	0.002	T	0.14811	-1.0459	10	0.17832	T	0.49	-5.9072	9.6314	0.39782	0.0758:0.1408:0.7834:0.0	.	105	Q13112	CAF1B_HUMAN	T	105	ENSP00000315700:A105T	ENSP00000315700:A105T	A	+	1	0	0	CHAF1B	36685772	36685772	0.014000	0.17966	0.135000	0.22099	0.581000	0.36288	1.069000	0.30641	1.311000	0.45024	-0.126000	0.14955	GCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.517	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-10.942460	1	0.170000	NM_005441			22	21		164	155	1		1	1		0	0	47	0		9.999985e-01	5.549292e-01	0	5	0	10	0	22	164
CHAF1B	8208	broad.mit.edu	37	21	37769717	37769717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	162					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)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGTAGGACAAAAGATATCAA	0.353																																						ENST00000314103.5	0.960000	0.340000	8.300000e-01	4.700000e-01	0.640000	0.657209	0.640000	0.630000																										0				20						c.(484-486)caA>caG		chromatin assembly factor 1, subunit B (p60)							46.0	48.0	47.0					21																	37769717		2203	4300	6503	SO:0001819	synonymous_variant	8208	0	0					g.chr21:37769717A>G	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.486A>G	chr21.hg19:g.37769717A>G		1					CHAF1B_ENST00000480486.1_3'UTR	p.Q162Q	NM_005441.2	NP_005432.1	0	1	1	1.813308	Q13112	CAF1B_HUMAN		6	637	+			Q99548	Silent	SNP	ENST00000314103.5	1	1	hg19	c.486A>G	CCDS13644.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-14.258640	1	0.170000	NM_005441			10	10		151	141	0		1	1		0	0	44	0		9.960823e-01	4.113767e-01	0	8	0	13	0	10	151
CHAF1B	8208	broad.mit.edu	37	21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	306					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)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGTGGAAACAGGTATCCTC	0.512																																						ENST00000314103.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.999084	0.990000	1.000000																										0				20						c.(916-918)aCa>aTa		chromatin assembly factor 1, subunit B (p60)							183.0	168.0	173.0					21																	37781761		2203	4300	6503	SO:0001583	missense	8208	0	0					g.chr21:37781761C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.917C>T	chr21.hg19:g.37781761C>T	ENSP00000315700:p.Thr306Ile	1						p.T306I	NM_005441.2	NP_005432.1	0	1	1	1.813308	Q13112	CAF1B_HUMAN		10	1068	+			Q99548	Missense_Mutation	SNP	ENST00000314103.5	1	1	hg19	c.917C>T	CCDS13644.1	1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962404	0.34659	.	.	ENSG00000159259	ENST00000314103	T	0.55052	0.54	4.13	4.13	0.48395	4.13	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.771278	0.12913	N	0.428808	T	0.47563	0.1452	L	0.58101	1.795	0.80722	D	1	B	0.25955	0.138	B	0.18263	0.021	T	0.48864	-0.8997	10	0.48119	T	0.1	-1.1091	10.2473	0.43350	0.3458:0.6542:0.0:0.0	.	306	Q13112	CAF1B_HUMAN	I	306	ENSP00000315700:T306I	ENSP00000315700:T306I	T	+	2	0	0	CHAF1B	36703631	36703631	0.954000	0.32549	0.960000	0.40013	0.910000	0.53928	2.047000	0.41269	2.283000	0.76528	0.563000	0.77884	ACA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	1		2	2	2	0		0	0	196		196	196	1	2.060000	-20.000000	1	0.170000	NM_005441			225	219		768	756	0		1	1		0	0	196	0		1	8.843895e-01	0	4	0	11	0	225	768
HLCS	3141	broad.mit.edu	37	21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	584	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				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)			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)	TGAGTTAACCAGAACTCCGCC	0.348																																						ENST00000399120.1	1.000000	0.730000	9.900000e-01	8.300000e-01	0.920000	0.913436	0.920000	1.000000																										0				24						c.(1750-1752)cTg>cCg		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						101.0	105.0	104.0					21																	38132072		2203	4300	6503	SO:0001583	missense	3141	0	0					g.chr21:38132072A>G		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.1751T>C	chr21.hg19:g.38132072A>G	ENSP00000382071:p.Leu584Pro	1					HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	p.L584P	NM_001242784.1	NP_001229713.1	0	1	1	1.813308	P50747	BPL1_HUMAN		10	2981	-		Myeloproliferative disorder(46;0.0422)	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	1	1	hg19	c.1751T>C	CCDS13647.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548100	0.86022	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99282	-5.68;-5.68	5.31	5.31	0.75309	5.31	5.31	0.75309	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000007	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	10	0.87932	D	0	.	15.2626	0.73637	1.0:0.0:0.0:0.0	.	584	P50747	BPL1_HUMAN	P	584	ENSP00000382071:L584P;ENSP00000338387:L584P	ENSP00000338387:L584P	L	-	2	0	0	HLCS	37053942	37053942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.550000	0.90675	2.002000	0.58637	0.482000	0.46254	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.348	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-15.526620	1	0.170000				49	48		462	453	1		1	1		0	0	112	0		1	9.344403e-01	0	7	0	38	0	49	462
HLCS	3141	broad.mit.edu	37	21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	489	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				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)			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)	TTCCTGCGGTGTCTGAAACAT	0.542																																						ENST00000399120.1	1.000000	0.830000	1	9.100000e-01	0.970000	0.961057	0.970000	1.000000																										0				24						c.(1465-1467)aCa>aTa		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						105.0	89.0	95.0					21																	38139572		2203	4300	6503	SO:0001583	missense	3141	0	0					g.chr21:38139572G>A		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.1466C>T	chr21.hg19:g.38139572G>A	ENSP00000382071:p.Thr489Ile	1					HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	p.T489I	NM_001242784.1	NP_001229713.1	0	1	1	1.813308	P50747	BPL1_HUMAN		8	2696	-		Myeloproliferative disorder(46;0.0422)	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	1	1	hg19	c.1466C>T	CCDS13647.1	1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263207	0.23051	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94280	-3.39;-3.39	6.11	-0.369	0.12534	6.11	-0.369	0.12534	Biotin/lipoate A/B protein ligase (1);	0.671223	0.16243	N	0.223068	T	0.82070	0.4957	N	0.16130	0.375	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.67229	-0.5723	10	0.16420	T	0.52	.	5.6186	0.17446	0.552:0.0:0.3278:0.1203	.	489	P50747	BPL1_HUMAN	I	489	ENSP00000382071:T489I;ENSP00000338387:T489I	ENSP00000338387:T489I	T	-	2	0	0	HLCS	37061442	37061442	0.976000	0.34144	0.988000	0.46212	0.810000	0.45777	1.139000	0.31504	-0.028000	0.13850	-0.290000	0.09829	ACA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				51	50		350	339	1		1	1		0	0	85	0		1	9.703501e-01	0	7	0	34	0	51	350
HLCS	3141	broad.mit.edu	37	21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	73					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)			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)	CTTTGTTTGGGTTCTTCACCA	0.552																																						ENST00000399120.1	1.000000	0.670000	9.800000e-01	7.900000e-01	0.890000	0.888581	0.890000	1.000000																										0				24						c.(217-219)Ccc>Acc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						91.0	78.0	82.0					21																	38309528		2203	4300	6503	SO:0001583	missense	3141	0	0					g.chr21:38309528G>T		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.217C>A	chr21.hg19:g.38309528G>T	ENSP00000382071:p.Pro73Thr	1					HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	p.P73T	NM_001242784.1	NP_001229713.1	0	1	1	1.813308	P50747	BPL1_HUMAN		5	1447	-		Myeloproliferative disorder(46;0.0422)	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	1	1	hg19	c.217C>A	CCDS13647.1	1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783937	0.16189	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	D;D	0.97976	-4.64;-4.64	5.0	-9.6	0.00553	5.0	-9.6	0.00553	.	0.833571	0.10862	N	0.625967	D	0.92580	0.7643	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81037	-0.1114	10	0.34782	T	0.22	.	1.0272	0.01530	0.436:0.1744:0.1271:0.2625	.	73;73	B2RAH1;P50747	.;BPL1_HUMAN	T	73	ENSP00000382071:P73T;ENSP00000338387:P73T	ENSP00000338387:P73T	P	-	1	0	0	HLCS	37231398	37231398	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.400000	0.07241	-1.709000	0.01399	-0.137000	0.14449	CCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000				34	33		327	320	1		1	1		0	0	94	0		1	9.707517e-01	0	10	0	47	0	34	327
TTC3	7267	broad.mit.edu	37	21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	665					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)			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)				GATCCAGATATACATAACTGA	0.368																																					Ovarian(38;194 1649 35661)	ENST00000399017.2	1.000000	0.930000	1	9.700000e-01	0.990000	0.990583	0.990000	1.000000																										0				75						c.(1993-1995)Tac>Cac		tetratricopeptide repeat domain 3							115.0	111.0	112.0					21																	38519880		2203	4300	6503	SO:0001583	missense	7267	1	121410	32				g.chr21:38519880T>C	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.1993T>C	chr21.hg19:g.38519880T>C	ENSP00000381981:p.Tyr665His	1					TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H	p.Y665H	NM_003316.3	NP_003307.3	0	1	1	1.813308	P53804	TTC3_HUMAN		22	4740	+		Myeloproliferative disorder(46;0.0412)	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	1	1	hg19	c.1993T>C	CCDS13651.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118059	0.77323	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.66099	1.63;-0.08;1.69;1.82;-0.19;1.82;1.82	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.357825	0.24126	N	0.041314	T	0.70245	0.3202	L	0.32530	0.975	0.39491	D	0.968041	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.75121	-0.3429	10	0.87932	D	0	-14.1615	14.4552	0.67411	0.0:0.0:0.0:1.0	.	355;665	B4DSZ9;P53804	.;TTC3_HUMAN	H	665;665;647;665;355;665;665	ENSP00000403943:Y665H;ENSP00000408456:Y665H;ENSP00000391891:Y647H;ENSP00000347889:Y665H;ENSP00000442875:Y355H;ENSP00000381981:Y665H;ENSP00000346791:Y665H	ENSP00000346791:Y665H	Y	+	1	0	0	TTC3	37441750	37441750	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.518000	0.73764	1.951000	0.56629	0.528000	0.53228	TAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				84	82		343	337	1		1	1		0	0	84	0		1	1	0	25	0	115	0	84	343
TTC3	7267	broad.mit.edu	37	21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					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)			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)				GGATGCCCTCGTTTTGTTGTG	0.363																																					Ovarian(38;194 1649 35661)	ENST00000399017.2	1.000000	0.810000	1	8.800000e-01	0.940000	0.940981	0.940000	1.000000																										0				75						c.(3481-3483)cGt>cAt		tetratricopeptide repeat domain 3							161.0	176.0	171.0					21																	38537998		2203	4300	6503	SO:0001583	missense	7267	2	121412	34				g.chr21:38537998G>A	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.3482G>A	chr21.hg19:g.38537998G>A	ENSP00000381981:p.Arg1161His	1					TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	p.R1161H	NM_003316.3	NP_003307.3	0	1	1	1.813308	P53804	TTC3_HUMAN		33	6229	+		Myeloproliferative disorder(46;0.0412)	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	1	1	hg19	c.3482G>A	CCDS13651.1	1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472211	0.63737	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.14766	2.48;2.48;2.79;2.79;2.79	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.097011	0.45867	D	0.000333	T	0.36026	0.0952	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.926	T	0.13282	-1.0515	10	0.87932	D	0	-11.0241	16.2538	0.82501	0.0:0.0:1.0:0.0	.	219;1161	Q5GIT6;P53804	.;TTC3_HUMAN	H	1161;1143;1161;1161;1161	ENSP00000403943:R1161H;ENSP00000391891:R1143H;ENSP00000347889:R1161H;ENSP00000381981:R1161H;ENSP00000346791:R1161H	ENSP00000346791:R1161H	R	+	2	0	0	TTC3	37459868	37459868	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.674000	0.46867	2.352000	0.79861	0.591000	0.81541	CGT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1		2	2	2	0		0	0	248		248	248	1	2.060000	-20.000000	1	0.170000				101	100		964	954	1		1	1		0	0	248	0		1	9.999935e-01	0	17	0	139	0	101	964
TTC3	7267	broad.mit.edu	37	21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1310					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)			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)				TTATTGGGCTCAATCCCATTT	0.453																																					Ovarian(38;194 1649 35661)	ENST00000399017.2	1.000000	0.780000	9.900000e-01	8.600000e-01	0.940000	0.933476	0.940000	1.000000																										0				75						c.(3928-3930)Caa>Aaa		tetratricopeptide repeat domain 3							105.0	108.0	107.0					21																	38538444		2203	4298	6501	SO:0001583	missense	7267	0	0					g.chr21:38538444C>A	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.3928C>A	chr21.hg19:g.38538444C>A	ENSP00000381981:p.Gln1310Lys	1					TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR	p.Q1310K	NM_003316.3	NP_003307.3	0	1	1	1.813308	P53804	TTC3_HUMAN		33	6675	+		Myeloproliferative disorder(46;0.0412)	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	1	1	hg19	c.3928C>A	CCDS13651.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495499	0.44352	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08282	3.11;3.11;3.11	5.09	4.14	0.48551	5.09	4.14	0.48551	.	0.151389	0.30940	N	0.008577	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.243	B;B	0.36464	0.225;0.033	T	0.12760	-1.0535	9	.	.	.	-10.37	10.4636	0.44594	0.0:0.7454:0.2546:0.0	.	368;1310	Q5GIT6;P53804	.;TTC3_HUMAN	K	1310	ENSP00000347889:Q1310K;ENSP00000381981:Q1310K;ENSP00000346791:Q1310K	.	Q	+	1	0	0	TTC3	37460314	37460314	0.157000	0.22836	0.943000	0.38184	0.590000	0.36582	1.965000	0.40471	2.533000	0.85409	0.655000	0.94253	CAA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-18.679950	1	0.170000				64	63		585	550	1		1	1		0	0	160	0		1	9.999894e-01	0	10	0	140	0	64	585
DYRK1A	1859	broad.mit.edu	37	21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000398960.2	+	11	2257	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	DYRK1A_ENST00000339659.4_Missense_Mutation_p.P719S|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	728					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)			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						TAATACAGGTCCTGCACATTA	0.483																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000398960.2	1.000000	0.690000	9.900000e-01	8.100000e-01	0.910000	0.903052	0.910000	1.000000																										0				42						c.(2182-2184)Cct>Tct		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							112.0	101.0	105.0					21																	38884724		2203	4300	6503	SO:0001583	missense	1859	0	0					g.chr21:38884724C>T	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.2182C>T	chr21.hg19:g.38884724C>T	ENSP00000381932:p.Pro728Ser	1					DYRK1A_ENST00000339659.4_Missense_Mutation_p.P719S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR	p.P728S	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	0	1	1	1.813308	Q13627	DYR1A_HUMAN		11	2257	+			O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	1	1	hg19	c.2182C>T	CCDS42925.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883449	0.33255	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58210	0.36;0.35;0.91	5.53	4.64	0.57946	5.53	4.64	0.57946	.	0.099278	0.64402	N	0.000001	T	0.32164	0.0820	N	0.14661	0.345	0.53005	D	0.999964	B;B	0.32350	0.366;0.002	B;B	0.27500	0.08;0.005	T	0.10382	-1.0632	10	0.12103	T	0.63	.	14.5041	0.67741	0.0:0.9292:0.0:0.0708	.	728;719	Q13627;Q13627-2	DYR1A_HUMAN;.	S	719;728;500	ENSP00000340373:P719S;ENSP00000381932:P728S;ENSP00000407854:P500S	ENSP00000340373:P719S	P	+	1	0	0	DYRK1A	37806594	37806594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.338000	0.45544	0.655000	0.94253	CCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-12.320730	1	0.170000	NM_001396			32	32		285	281	1		1	1		0	0	92	0		1	9.997528e-01	0	17	0	98	0	32	285
KCNJ6	3763	broad.mit.edu	37	21	38997550	38997550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	395					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000609713.1	1.000000	0.970000	1	9.800000e-01	0.990000	0.997312	0.990000	1.000000																										0				22						c.(1183-1185)Ctg>Ttg		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						214.0	201.0	205.0					21																	38997550		1888	4126	6014	SO:0001819	synonymous_variant	3763	0	0					g.chr21:38997550G>A	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.1183C>T	chr21.hg19:g.38997550G>A		1					KCNJ6_ENST00000288309.6_Silent_p.L395L	p.L395L	NM_002240.3	NP_002231.1	0	1	1	1.813308	P48051	KCNJ6_HUMAN		4	1772	-			Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	1	1	hg19	c.1183C>T	CCDS42927.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-20.000000	1	0.170000	NM_002240			155	153		589	580	1		1	0		0	0	149	0		1	0	0	0	0	1	0	155	589
KCNJ15	3772	broad.mit.edu	37	21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S	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	154					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)			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)	GGTCATCACGACCTTGATTGA	0.512																																						ENST00000328656.4	1.000000	0.940000	1	9.700000e-01	0.990000	0.991776	0.990000	1.000000																										0				24						c.(460-462)Acc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 15	Yohimbine(DB01392)						89.0	84.0	86.0					21																	39671643		2203	4300	6503	SO:0001583	missense	3772	0	0					g.chr21:39671643A>T	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.460A>T	chr21.hg19:g.39671643A>T	ENSP00000331698:p.Thr154Ser	1					KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S	p.T154S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	0	1	1	1.813308	Q99712	KCJ15_HUMAN		4	763	+			D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	1	1	hg19	c.460A>T	CCDS13656.1	1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534235	0.45073	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927	D;D;D;D;D;D;D;D	0.95885	-3.84;-3.26;-3.84;-3.84;-3.84;-3.84;-3.84;-3.26	5.83	5.83	0.93111	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.113444	0.64402	D	0.000014	D	0.92967	0.7762	N	0.16266	0.395	0.44188	D	0.997006	P	0.46621	0.881	P	0.50192	0.634	D	0.92329	0.5872	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	154	Q99712	IRK15_HUMAN	S	154	ENSP00000331698:T154S;ENSP00000381902:T154S;ENSP00000381911:T154S;ENSP00000381905:T154S;ENSP00000414487:T154S;ENSP00000381904:T154S;ENSP00000381907:T154S;ENSP00000381901:T154S	.	T	+	1	0	0	KCNJ15	38593513	38593513	0.989000	0.36119	0.897000	0.35233	0.453000	0.32348	4.842000	0.62831	2.236000	0.73375	0.533000	0.62120	ACC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_002243			81	80		271	268	1		1	0		0	0	55	0		1	9.999544e-01	0	0	0	51	0	81	271
ETS2	2114	broad.mit.edu	37	21	40184962	40184962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	36					cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398																																						ENST00000360214.3	1.000000	0.950000	1	9.800000e-01	0.990000	0.994935	0.990000	1.000000																										0				18						c.(106-108)ctG>ctA		v-ets avian erythroblastosis virus E26 oncogene homolog 2							134.0	133.0	134.0					21																	40184962		2203	4300	6503	SO:0001819	synonymous_variant	2114	0	0					g.chr21:40184962G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.108G>A	chr21.hg19:g.40184962G>A		1					ETS2_ENST00000360938.3_Silent_p.L36L	p.L36L	NM_001256295.1	NP_001243224.1	0	1	1	1.813308	P15036	ETS2_HUMAN		4	568	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	1	1	hg19	c.108G>A	CCDS13659.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000				111	108		404	398	1		1	1		0	0	106	0		1	1	0	63	0	140	0	111	404
ETS2	2114	broad.mit.edu	37	21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512																																						ENST00000360214.3	1.000000	0.860000	1	9.200000e-01	0.970000	0.966084	0.970000	1.000000																										0				18						c.(451-453)Gca>Aca		v-ets avian erythroblastosis virus E26 oncogene homolog 2							190.0	189.0	189.0					21																	40186851		2203	4300	6503	SO:0001583	missense	2114	1	121412	34				g.chr21:40186851G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.451G>A	chr21.hg19:g.40186851G>A	ENSP00000353344:p.Ala151Thr	1					ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	p.A151T	NM_001256295.1	NP_001243224.1	0	1	1	1.813308	P15036	ETS2_HUMAN		6	911	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	1	1	hg19	c.451G>A	CCDS13659.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369851	0.82573	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.08	5.08	0.68730	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.162599	0.56097	D	0.000033	T	0.50531	0.1621	L	0.48935	1.535	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.955	T	0.49818	-0.8899	10	0.59425	D	0.04	.	18.8647	0.92287	0.0:0.0:1.0:0.0	.	151;151	P15036;C9JAG2	ETS2_HUMAN;.	T	151	ENSP00000353344:A151T;ENSP00000354194:A151T;ENSP00000401273:A151T;ENSP00000411086:A151T	ENSP00000353344:A151T	A	+	1	0	0	ETS2	39108721	39108721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.507000	0.84556	0.655000	0.94253	GCA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-20.000000	1	0.170000				87	86		701	689	1		1	1		0	0	175	0		1	1	0	47	0	318	0	87	701
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	C	T	rs113417859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0					ENST00000360214.3	1.000000	0.510000	9.500000e-01	6.600000e-01	0.820000	0.811221	0.820000	1.000000																										0				18						c.(931-933)ttC>ttT		v-ets avian erythroblastosis virus E26 oncogene homolog 2		C		0,4406		0,0,2203	90.0	76.0	81.0		933	-4.4	0.9	21	dbSNP_132	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ETS2	NM_005239.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		311/470	40191548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2114	8	121398	39				g.chr21:40191548C>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.933C>T	chr21.hg19:g.40191548C>T		1					ETS2_ENST00000360938.3_Silent_p.F311F	p.F311F	NM_001256295.1	NP_001243224.1	0	1	1	1.813308	P15036	ETS2_HUMAN		9	1393	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	1	1	hg19	c.933C>T	CCDS13659.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-19.522260	1	0.170000				14	14		144	140	1		1	1		0	0	40	0		9.997590e-01	1	0	49	0	448	0	14	144
ETS2	2114	broad.mit.edu	37	21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	329					cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537																																						ENST00000360214.3	1.000000	0.590000	9.800000e-01	7.400000e-01	0.880000	0.864539	0.880000	1.000000																										0				18						c.(985-987)Atg>Gtg		v-ets avian erythroblastosis virus E26 oncogene homolog 2							74.0	62.0	66.0					21																	40191600		2203	4300	6503	SO:0001583	missense	2114	3	121412	32				g.chr21:40191600A>G		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.985A>G	chr21.hg19:g.40191600A>G	ENSP00000353344:p.Met329Val	1					ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	p.M329V	NM_001256295.1	NP_001243224.1	0	1	1	1.813308	P15036	ETS2_HUMAN		9	1445	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	1	1	hg19	c.985A>G	CCDS13659.1	1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295585	0.23564	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.293939	0.42821	D	0.000653	T	0.12732	0.0309	L	0.38838	1.175	0.41499	D	0.988279	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.16420	T	0.52	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	329	P15036	ETS2_HUMAN	V	329	ENSP00000353344:M329V;ENSP00000354194:M329V	ENSP00000353344:M329V	M	+	1	0	0	ETS2	39113470	39113470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.507000	0.60434	2.251000	0.74343	0.528000	0.53228	ATG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	0		2	2	2	0		0	0	32		32	30	1	2.060000	-19.995520	1	0.170000				14	14		111	108	1		1	1		0	0	32	0		9.997778e-01	1	0	57	0	272	0	14	111
BRWD1	54014	broad.mit.edu	37	21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					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)				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)				AGAAGCATTTCGATGGGGCAG	0.338																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2	1.000000	0.900000	1	9.500000e-01	0.980000	0.982644	0.980000	1.000000																										0				58						c.(6808-6810)cGa>cAa		bromodomain and WD repeat domain containing 1							77.0	80.0	79.0					21																	40559106		2201	4296	6497	SO:0001583	missense	54014	0	0					g.chr21:40559106C>T	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.6809G>A	chr21.hg19:g.40559106C>T	ENSP00000330753:p.Arg2270Gln	1					AF129408.17_ENST00000608767.1_RNA	p.R2270Q	NM_018963.4	NP_061836.2	0	1	1	1.813308	Q9NSI6	BRWD1_HUMAN		42	7136	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	1	1	hg19	c.6809G>A	CCDS13662.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000185658	ENST00000333229	T	0.60299	0.2	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.159818	0.29314	N	0.012508	T	0.70228	0.3200	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.72357	-0.4318	10	0.66056	D	0.02	-0.8337	18.2571	0.90023	0.0:1.0:0.0:0.0	.	2270	Q9NSI6	BRWD1_HUMAN	Q	2270	ENSP00000330753:R2270Q	ENSP00000330753:R2270Q	R	-	2	0	0	BRWD1	39480976	39480976	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.820000	0.97059	0.650000	0.86243	CGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_033656			60	59		270	268	1		1	1		0	0	63	0		1	9.813234e-01	0	11	0	20	0	60	270
BRWD1	54014	broad.mit.edu	37	21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	rs145677980	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000333229.2	-	25	3275	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	983					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)				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)				TTCATAAATATTATTTCTTCT	0.303																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2	1.000000	0.860000	1	9.300000e-01	0.980000	0.972258	0.980000	1.000000																										0				58						c.(2947-2949)aAt>aCt		bromodomain and WD repeat domain containing 1							69.0	69.0	69.0					21																	40604155		2202	4297	6499	SO:0001583	missense	54014	0	0					g.chr21:40604155T>G	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.2948A>C	chr21.hg19:g.40604155T>G	ENSP00000330753:p.Asn983Thr	1					BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	p.N983T	NM_018963.4	NP_061836.2	0	1	1	1.813308	Q9NSI6	BRWD1_HUMAN		25	3275	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	1	1	hg19	c.2948A>C	CCDS13662.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181532	0.78677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56275	0.47;0.5;0.58	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.127274	0.53938	D	0.000057	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.337;0.981	B;P	0.49637	0.173;0.617	T	0.58912	-0.7552	10	0.48119	T	0.1	-4.9369	15.6973	0.77509	0.0:0.0:0.0:1.0	.	983;983	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	983	ENSP00000330753:N983T;ENSP00000344333:N983T;ENSP00000370178:N983T	ENSP00000330753:N983T	N	-	2	0	0	BRWD1	39526025	39526025	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.680000	0.61656	2.110000	0.64415	0.482000	0.46254	AAT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.303	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_033656			37	36		139	138	1		1	1		0	0	35	0		1	9.913054e-01	0	10	0	21	0	37	139
BRWD1	54014	broad.mit.edu	37	21	40646333	40646333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40646333C>T	ENST00000333229.2	-	13	1538	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRWD1_ENST00000342449.3_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	404					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)				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)				CAATAAAATGCTCCTCCATTC	0.413																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2	0.410000	0.110000	3.200000e-01	1.600000e-01	0.230000	0.248312	0.230000	0.220000																										0				58						c.(1210-1212)aGc>aAc		bromodomain and WD repeat domain containing 1							209.0	166.0	181.0					21																	40646333		2203	4300	6503	SO:0001583	missense	54014	0	0					g.chr21:40646333C>T	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.1211G>A	chr21.hg19:g.40646333C>T	ENSP00000330753:p.Ser404Asn	1					BRWD1_ENST00000342449.3_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	p.S404N	NM_018963.4	NP_061836.2	0	1	1	1.813308	Q9NSI6	BRWD1_HUMAN		13	1538	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	0	1	hg19	c.1211G>A	CCDS13662.1	0	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076531	0.55753	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.18338	2.22;2.22;2.22	5.55	5.55	0.83447	5.55	5.55	0.83447	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	0.22399	0.0540	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32753	0.006;0.383;0.128	B;B;B	0.36186	0.006;0.219;0.045	T	0.01371	-1.1372	10	0.48119	T	0.1	-7.0897	14.6863	0.69052	0.0:0.9286:0.0:0.0714	.	115;404;404	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	404	ENSP00000330753:S404N;ENSP00000344333:S404N;ENSP00000370178:S404N	ENSP00000330753:S404N	S	-	2	0	0	BRWD1	39568203	39568203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.530000	0.60595	2.626000	0.88956	0.484000	0.47621	AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	0	0		2	2	2	0		0	0	74		74	73	1	2.060000	-8.317179	1	0.170000	NM_033656			9	9		413	409	0		1	0		0	0	74	0		9.940770e-01	1.444917e-01	0	0	0	28	0	9	413
IGSF5	150084	broad.mit.edu	37	21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	74	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)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587																																						ENST00000380588.4	0.740000	0.230000	6.000000e-01	3.200000e-01	0.440000	0.467851	0.440000	0.430000																										0				23						c.(220-222)aGt>aAt		immunoglobulin superfamily, member 5							95.0	72.0	80.0					21																	41137582		2203	4300	6503	SO:0001583	missense	150084	0	0					g.chr21:41137582G>A		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.221G>A	chr21.hg19:g.41137582G>A	ENSP00000369962:p.Ser74Asn	1					IGSF5_ENST00000479378.1_3'UTR	p.S74N	NM_001080444.1	NP_001073913.1	0	1	1	1.813308	Q9NSI5	IGSF5_HUMAN		3	324	+		Prostate(19;5.35e-06)		Missense_Mutation	SNP	ENST00000380588.4	1	1	hg19	c.221G>A	CCDS33562.1	0	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.499102	0.00157	.	.	ENSG00000183067	ENST00000380588	T	0.23348	1.91	3.71	2.54	0.30619	3.71	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.810362	0.11545	N	0.553365	T	0.04588	0.0125	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.02654	T	1	-2.3909	7.3042	0.26438	0.8149:0.0:0.1851:0.0	.	74	Q9NSI5	IGSF5_HUMAN	N	74	ENSP00000369962:S74N	ENSP00000369962:S74N	S	+	2	0	0	IGSF5	40059452	40059452	0.005000	0.15991	0.071000	0.20095	0.006000	0.05464	1.999000	0.40806	0.131000	0.18576	-0.381000	0.06696	AGT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-12.348270	1	0.170000				10	9		231	228	0		1	0		0	0	69	0		9.967941e-01	2.226270e-03	0	0	0	2	0	10	231
DSCAM	1826	broad.mit.edu	37	21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2005				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)				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)				GATTTTGCGTAAGGATTGTTT	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	0.880000	0.300000	7.300000e-01	4.100000e-01	0.560000	0.579303	0.560000	0.540000																										0				142						c.(6013-6015)Tac>Cac		Down syndrome cell adhesion molecule							69.0	67.0	68.0					21																	41384987		1890	4126	6016	SO:0001583	missense	1826	0	0					g.chr21:41384987A>G	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.6013T>C	chr21.hg19:g.41384987A>G	ENSP00000383303:p.Tyr2005His	1						p.Y2005H	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		33	6490	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	1	1	hg19	c.6013T>C	CCDS42929.1	0	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295528	0.60086	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.71222	-0.41;-0.55	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.63843	1.955	0.45097	D	0.998111	D	0.71674	0.998	D	0.78314	0.991	D	0.84193	0.0446	10	0.87932	D	0	.	15.4267	0.75059	1.0:0.0:0.0:0.0	.	2005	O60469	DSCAM_HUMAN	H	2005;1739	ENSP00000383303:Y2005H;ENSP00000385342:Y1739H	ENSP00000383303:Y2005H	Y	-	1	0	0	DSCAM	40306857	40306857	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.686000	0.91250	2.041000	0.60428	0.455000	0.32223	TAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-14.107460	1	0.170000	NM_001389			11	11		198	196	0		1			0	0	45	0		9.983834e-01	0	0	0	0	0	0	11	198
DSCAM	1826	broad.mit.edu	37	21	41385243	41385243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1919				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)				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)				TCAGGTCCCTGCTGGTGCCTG	0.542																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	0.840000	0.320000	7.000000e-01	4.200000e-01	0.550000	0.569299	0.550000	0.540000																										0				142						c.(5755-5757)agC>agT		Down syndrome cell adhesion molecule							53.0	53.0	53.0					21																	41385243		1977	4152	6129	SO:0001819	synonymous_variant	1826	0	0					g.chr21:41385243G>A	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.5757C>T	chr21.hg19:g.41385243G>A		1						p.S1919S	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		33	6234	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Silent	SNP	ENST00000400454.1	1	1	hg19	c.5757C>T	CCDS42929.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-17.102220	1	0.170000	NM_001389			15	13		275	273	0		1			0	0	70	0		9.998700e-01	0	0	0	0	0	0	15	275
DSCAM	1826	broad.mit.edu	37	21	41452251	41452251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41452251G>T	ENST00000400454.1	-	25	4725	c.4248C>A	c.(4246-4248)taC>taA	p.Y1416*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1416	Fibronectin type-III 5. {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)				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)				TGTCCTCGGAGTACTGCAGTA	0.453																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	0.750000	0.220000	6.000000e-01	3.200000e-01	0.440000	0.467495	0.440000	0.420000																										0				142						c.(4246-4248)taC>taA		Down syndrome cell adhesion molecule							79.0	75.0	76.0					21																	41452251		1938	4135	6073	SO:0001587	stop_gained	1826	0	0					g.chr21:41452251G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4248C>A	chr21.hg19:g.41452251G>T	ENSP00000383303:p.Tyr1416*	1						p.Y1416*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		25	4725	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	0	1	hg19	c.4248C>A	CCDS42929.1	0	.	.	.	.	.	.	.	.	.	.	G	38	6.695044	0.97768	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.893	0.19236	5.28	0.893	0.19236	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5629	0.45156	0.3606:0.0:0.6394:0.0	.	.	.	.	X	1416;1168	.	ENSP00000383303:Y1416X	Y	-	3	2	2	DSCAM	40374121	40374121	1.000000	0.71417	0.956000	0.39512	0.106000	0.19336	0.816000	0.27267	-0.147000	0.11254	-0.244000	0.11960	TAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-10.999320	1	0.170000	NM_001389			9	9		209	203	0		1	0		0	0	42	0		9.937553e-01	0	0	0	0	1	0	9	209
DSCAM	1826	broad.mit.edu	37	21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	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)				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)				ATGCTCCTCCGCCCATCAATC	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.924810	0.930000	1.000000																										0				142						c.(4003-4005)Cgg>Tgg		Down syndrome cell adhesion molecule							87.0	80.0	82.0					21																	41457658		1884	4124	6008	SO:0001583	missense	1826	1	120836	35				g.chr21:41457658G>A	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.4003C>T	chr21.hg19:g.41457658G>A	ENSP00000383303:p.Arg1335Trp	1						p.R1335W	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		23	4480	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	1	1	hg19	c.4003C>T	CCDS42929.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.159064	0.94686	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80286	-0.1446	10	0.62326	D	0.03	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1335	O60469	DSCAM_HUMAN	W	1335;1087	ENSP00000383303:R1335W;ENSP00000385342:R1087W	ENSP00000383303:R1335W	R	-	1	2	2	DSCAM	40379528	40379528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.550000	0.60733	2.581000	0.87130	0.655000	0.94253	CGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-13.308160	1	0.170000	NM_001389			36	36		295	287	1		1			0	0	77	0		1	0	0	0	0	0	0	36	295
DSCAM	1826	broad.mit.edu	37	21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	561	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	1.000000	0.930000	1	9.700000e-01	0.990000	0.990237	0.990000	1.000000																										0				142						c.(1681-1683)cTt>cGt		Down syndrome cell adhesion molecule							166.0	156.0	159.0					21																	41710129		1964	4157	6121	SO:0001583	missense	1826	0	0					g.chr21:41710129A>C	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.1682T>G	chr21.hg19:g.41710129A>C	ENSP00000383303:p.Leu561Arg	1						p.L561R	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		8	2159	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	1	1	hg19	c.1682T>G	CCDS42929.1	1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796638	0.70567	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88903	0.3354	10	0.87932	D	0	.	16.0742	0.80958	1.0:0.0:0.0:0.0	.	561	O60469	DSCAM_HUMAN	R	561;313	ENSP00000383303:L561R;ENSP00000385342:L313R	ENSP00000383303:L561R	L	-	2	0	0	DSCAM	40631999	40631999	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	9.133000	0.94460	2.198000	0.70561	0.533000	0.62120	CTT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_001389			88	88		394	385	1		1			0	0	106	0		1	0	0	0	0	0	0	88	394
DSCAM	1826	broad.mit.edu	37	21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	498	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTTTATTCGAGCCTGGTAC	0.527																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	1.000000	0.940000	1	9.700000e-01	0.990000	0.991907	0.990000	1.000000																										0				142						c.(1492-1494)Cga>Tga		Down syndrome cell adhesion molecule							85.0	82.0	83.0					21																	41711061		1968	4171	6139	SO:0001587	stop_gained	1826	0	0					g.chr21:41711061G>A	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.1492C>T	chr21.hg19:g.41711061G>A	ENSP00000383303:p.Arg498*	1						p.R498*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		7	1969	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	0	1	hg19	c.1492C>T	CCDS42929.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.699790	0.97772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	6.08	4.28	0.50868	6.08	4.28	0.50868	.	0.076737	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2318	0.54492	0.0643:0.1204:0.8153:0.0	.	.	.	.	X	498;250	.	ENSP00000383303:R498X	R	-	1	2	2	DSCAM	40632931	40632931	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.751000	0.98889	0.903000	0.36546	-0.165000	0.13383	CGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-4.904578	1	0.170000	NM_001389			79	79		246	243	1		1			0	0	62	0		1	0	0	0	0	0	0	79	246
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	1.000000	0.880000	1	9.400000e-01	0.980000	0.977161	0.980000	1.000000																										0				142						c.(637-639)Gcc>Acc		Down syndrome cell adhesion molecule							86.0	87.0	87.0					21																	41741044		1926	4138	6064	SO:0001583	missense	1826	0	0					g.chr21:41741044C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.637G>A	chr21.hg19:g.41741044C>T	ENSP00000383303:p.Ala213Thr	1						p.A213T	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	1	1	1.813308	O60469	DSCAM_HUMAN		4	1114	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	1	1	hg19	c.637G>A	CCDS42929.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	0	DSCAM	40662914	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_001389			50	50		232	227	1		1			0	0	68	0		1	0	0	0	0	0	0	50	232
BACE2	25825	broad.mit.edu	37	21	42647386	42647386	+	Silent	SNP	C	C	T	rs537658410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000330333.6	+	9	1855	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Silent_p.S414S|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	464					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTCTTTGAGCGAGCCCATTT	0.547																																						ENST00000330333.6	0.410000	0.080000	3.100000e-01	1.400000e-01	0.210000	0.229945	0.210000	0.200000																										0				14						c.(1390-1392)agC>agT		beta-site APP-cleaving enzyme 2							156.0	134.0	142.0					21																	42647386		2203	4300	6503	SO:0001819	synonymous_variant	25825	48	121412	49				g.chr21:42647386C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1392C>T	chr21.hg19:g.42647386C>T		1					BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_Silent_p.S414S|BACE2_ENST00000466122.1_3'UTR	p.S464S	NM_012105.3	NP_036237.2	0	1	1	1.813308	Q9Y5Z0	BACE2_HUMAN		9	1855	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	0	1	hg19	c.1392C>T	CCDS13668.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.882554	1	0.170000				6	6		310	306	0		1	1		0	0	62	0		9.639639e-01	9.999874e-01	0	90	0	1668	0	6	310
MX2	4600	broad.mit.edu	37	21	42748845	42748845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	4					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)			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)				TGTCTAAGGCCCACAAGCCTT	0.507																																						ENST00000330714.3	1.000000	0.930000	1	9.700000e-01	0.990000	0.990364	0.990000	1.000000																										0				34						c.(10-12)gcC>gcA		MX dynamin-like GTPase 2							70.0	72.0	71.0					21																	42748845		2203	4300	6503	SO:0001819	synonymous_variant	4600	0	0					g.chr21:42748845C>A		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.12C>A	chr21.hg19:g.42748845C>A		1					MX2_ENST00000543692.1_Silent_p.A4A	p.A4A	NM_002463.1	NP_002454.1	0	1	1	1.813308	P20592	MX2_HUMAN		2	196	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	1	1	hg19	c.12C>A	CCDS13672.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_002463			87	86		380	373	1		1	1		0	0	122	0		1	1	0	40	0	73	0	87	380
MX1	4599	broad.mit.edu	37	21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	624	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617																																						ENST00000398600.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.995724	0.990000	1.000000																										0				27						c.(1870-1872)Gac>Tac		MX dynamin-like GTPase 1							112.0	108.0	109.0					21																	42830566		2203	4300	6503	SO:0001583	missense	4599	0	0					g.chr21:42830566G>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1870G>T	chr21.hg19:g.42830566G>T	ENSP00000381601:p.Asp624Tyr	1					MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	p.D624Y	NM_001144925.1	NP_001138397.1	0	1	1	1.813308	P20591	MX1_HUMAN		19	2895	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	1	1	hg19	c.1870G>T	CCDS13673.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406273	0.83230	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.7	4.7	0.59300	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.317331	0.36932	N	0.002327	T	0.69904	0.3163	M	0.77616	2.38	0.52501	D	0.99995	D	0.60160	0.987	D	0.63381	0.914	T	0.74334	-0.3699	10	0.87932	D	0	-15.9133	13.8894	0.63729	0.0:0.0:1.0:0.0	.	624	P20591	MX1_HUMAN	Y	624;624;624;601	ENSP00000381601:D624Y;ENSP00000381599:D624Y;ENSP00000410523:D624Y;ENSP00000288383:D601Y	ENSP00000288383:D601Y	D	+	1	0	0	MX1	41752436	41752436	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.882000	0.56160	2.547000	0.85894	0.655000	0.94253	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2	1	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-20.000000	1	0.170000				129	128		519	515	1		1	1		0	0	126	0		1	1	0	652	0	730	0	129	519
RIPK4	54101	broad.mit.edu	37	21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000352483.2	-	9	2184	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	707					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCGCCCCGATGCAGGAG	0.672																																						ENST00000352483.2	1.000000	0.810000	1	9.000000e-01	0.960000	0.953229	0.960000	1.000000																										0				34						c.(2119-2121)cGg>cAg		receptor-interacting serine-threonine kinase 4							42.0	44.0	44.0					21																	43161377		2203	4299	6502	SO:0001583	missense	54101	0	0					g.chr21:43161377C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2120G>A	chr21.hg19:g.43161377C>T	ENSP00000330161:p.Arg707Gln	1					AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q	p.R707Q			0	1	1	1.813308	P57078	RIPK4_HUMAN		9	2184	-			Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	1	1	hg19	c.2120G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525443|2.525443	0.44969|0.44969	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16	4.52|4.52	3.63|3.63	0.41609|0.41609	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	.|0.225320	.|0.30311	.|N	.|0.009918	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.28458|0.28458	0.855|0.855	0.36028|0.36028	D|D	0.839186|0.839186	.|D	.|0.56287	.|0.975	.|P	.|0.47891	.|0.56	T|T	0.53753|0.53753	-0.8394|-0.8394	6|10	0.87932|0.21540	D|T	0|0.41	-13.8925|-13.8925	8.2319|8.2319	0.31603|0.31603	0.0:0.7918:0.0:0.2082|0.0:0.7918:0.0:0.2082	.|.	.|659	.|P57078-2	.|.	R|Q	395|659;707;596;596	.|ENSP00000332454:R659Q;ENSP00000330161:R707Q;ENSP00000441754:R596Q;ENSP00000442901:R596Q	ENSP00000330975:G395R|ENSP00000332454:R659Q	G|R	-|-	1|2	0|0	0|0	RIPK4|RIPK4	42034446|42034446	42034446|42034446	0.778000|0.778000	0.28640|0.28640	0.842000|0.842000	0.33263|0.33263	0.561000|0.561000	0.35649|0.35649	1.287000|1.287000	0.33284|0.33284	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GGG|CGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.716735	1	0.170000	NM_020639			51	50		383	379	1		1	1		0	0	74	0		1	9.490809e-01	0	12	0	27	0	51	383
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	607					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662																																						ENST00000352483.2	1.000000	0.940000	1	9.700000e-01	0.990000	0.991098	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R559*(1)|p.R607*(1)	lung(2)	34						c.(1819-1821)Cga>Tga		receptor-interacting serine-threonine kinase 4							42.0	39.0	40.0					21																	43161678		2203	4299	6502	SO:0001587	stop_gained	54101	2	121380	27				g.chr21:43161678G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1819C>T	chr21.hg19:g.43161678G>A	ENSP00000330161:p.Arg607*	1					AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*	p.R607*			0	1	1	1.813308	P57078	RIPK4_HUMAN		9	1883	-			Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	0	1	hg19	c.1819C>T		1	.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	2	RIPK4	42034747	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-5.023670	1	0.170000	NM_020639			73	71		216	216	1		1	1		0	0	53	0		1	9.999964e-01	0	34	0	24	0	73	216
RIPK4	54101	broad.mit.edu	37	21	43161895	43161895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000352483.2	-	9	1666	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	RIPK4_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000542057.1_Silent_p.V423V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V423V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	534					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGCTCCACGACACCCCGCA	0.632																																						ENST00000352483.2	1.000000	0.950000	1	9.800000e-01	0.990000	0.994545	0.990000	1.000000																										0				34						c.(1600-1602)gtC>gtT		receptor-interacting serine-threonine kinase 4							102.0	87.0	92.0					21																	43161895		2203	4300	6503	SO:0001819	synonymous_variant	54101	4	121412	41				g.chr21:43161895G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1602C>T	chr21.hg19:g.43161895G>A		1					AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000542057.1_Silent_p.V423V	p.V534V			0	1	1	1.813308	P57078	RIPK4_HUMAN		9	1666	-			Q96KH0	Silent	SNP	ENST00000352483.2	1	1	hg19	c.1602C>T		1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_020639			108	107		401	393	1		1	1		0	0	85	0		1	9.999998e-01	0	39	0	45	0	108	401
RIPK4	54101	broad.mit.edu	37	21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000352483.2	-	9	1658	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	532					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGACACCCCGCACCCTCCTC	0.632																																						ENST00000352483.2	0.990000	0.600000	9.300000e-01	7.100000e-01	0.820000	0.820943	0.820000	0.830000																										0				34						c.(1594-1596)Cgg>Tgg		receptor-interacting serine-threonine kinase 4							97.0	84.0	89.0					21																	43161903		2203	4300	6503	SO:0001583	missense	54101	2	121412	31				g.chr21:43161903G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1594C>T	chr21.hg19:g.43161903G>A	ENSP00000330161:p.Arg532Trp	1					AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W	p.R532W			0	1	1	1.813308	P57078	RIPK4_HUMAN		9	1658	-			Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	1	1	hg19	c.1594C>T		0	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690655	0.29962	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.84	3.86	0.44501	4.84	3.86	0.44501	.	0.205027	0.32640	N	0.005837	T	0.21841	0.0526	L	0.28014	0.82	0.23070	N	0.998349	D	0.71674	0.998	P	0.59546	0.859	T	0.02161	-1.1203	10	0.62326	D	0.03	-32.3207	9.6918	0.40134	0.0:0.0:0.5728:0.4272	.	484	P57078-2	.	W	484;532;421;421;223	ENSP00000332454:R484W;ENSP00000330161:R532W;ENSP00000441754:R421W;ENSP00000442901:R421W	ENSP00000330975:R223W	R	-	1	2	2	RIPK4	42034972	42034972	0.999000	0.42202	0.043000	0.18650	0.004000	0.04260	4.307000	0.59123	2.209000	0.71365	0.655000	0.94253	CGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-10.346810	1	0.170000	NM_020639			41	41		482	473	0		1	1		0	0	89	0		1	9.907427e-01	0	29	0	58	0	41	482
RIPK4	54101	broad.mit.edu	37	21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000352483.2	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGAGGTAGGCGATTGTGCCA	0.577																																						ENST00000352483.2	1.000000	0.890000	1	9.500000e-01	0.980000	0.979696	0.980000	1.000000																										0				34						c.(556-558)Gcc>Acc		receptor-interacting serine-threonine kinase 4							136.0	115.0	122.0					21																	43171324		2203	4300	6503	SO:0001583	missense	54101	0	0					g.chr21:43171324C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.556G>A	chr21.hg19:g.43171324C>T	ENSP00000330161:p.Ala186Thr	1					RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T	p.A186T			0	1	1	1.813308	P57078	RIPK4_HUMAN		3	620	-			Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	1	1	hg19	c.556G>A		1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443555	0.83993	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000028	T	0.68384	0.2995	N	0.21508	0.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73839	-0.3856	10	0.72032	D	0.01	-31.4363	16.3904	0.83533	0.0:1.0:0.0:0.0	.	186	P57078-2	.	T	186;186;123;123	ENSP00000332454:A186T;ENSP00000330161:A186T;ENSP00000441754:A123T;ENSP00000442901:A123T	ENSP00000332454:A186T	A	-	1	0	0	RIPK4	42044393	42044393	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.766000	0.68843	2.088000	0.63022	0.561000	0.74099	GCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_020639			57	56		277	273	1		1	1		0	0	89	0		1	9.999805e-01	0	34	0	46	0	57	277
PRDM15	63977	broad.mit.edu	37	21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000269844.3	-	26	3535	c.3425G>A	c.(3424-3426)tGc>tAc	p.C1142Y	PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C833Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1142					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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACTCCTTGCACTCGTACTC	0.642																																						ENST00000269844.3	1.000000	0.750000	9.900000e-01	8.500000e-01	0.930000	0.925286	0.930000	1.000000																										0				43						c.(3424-3426)tGc>tAc		PR domain containing 15							181.0	124.0	144.0					21																	43236126		2203	4300	6503	SO:0001583	missense	63977	0	0					g.chr21:43236126C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3425G>A	chr21.hg19:g.43236126C>T	ENSP00000269844:p.Cys1142Tyr	1					PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C833Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y	p.C1142Y	NM_022115.3	NP_071398.3	0	1	1	1.813308	P57071	PRD15_HUMAN		26	3535	-			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	1	1	hg19	c.3425G>A	CCDS13676.1	1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.636198	0.87760	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.49	4.49	0.54785	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95993	0.8695	H	0.99404	4.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.985	D	0.98285	1.0510	9	0.87932	D	0	-24.7482	16.2106	0.82151	0.0:1.0:0.0:0.0	.	1142;833;813	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	833;813;796;776;1142	ENSP00000408592:C833Y;ENSP00000381556:C813Y;ENSP00000444044:C796Y;ENSP00000390245:C776Y;ENSP00000269844:C1142Y	ENSP00000269844:C1142Y	C	-	2	0	0	PRDM15	42109195	42109195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	2.048000	0.60808	0.645000	0.84053	TGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_022115			42	42		361	358	1		1	0		0	0	57	0		1	1.277766e-01	0	1	0	5	0	42	361
PRDM15	63977	broad.mit.edu	37	21	43274842	43274842	+	Missense_Mutation	SNP	G	G	A	rs368907707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43274842G>A	ENST00000269844.3	-	12	1579	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A161V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	490	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCGGCCTCCGCCGCTGGCCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.0					ENST00000269844.3	0.440000	0.100000	3.400000e-01	1.600000e-01	0.230000	0.255783	0.230000	0.230000																										0				43						c.(1468-1470)gCg>gTg		PR domain containing 15		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	43.0	46.0		482,1469	-1.9	0.0	21		46	0,8600		0,0,4300	no	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	161/1179,490/1508	43274842	1,13005	2203	4300	6503	SO:0001583	missense	63977	8	121400	39				g.chr21:43274842G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1469C>T	chr21.hg19:g.43274842G>A	ENSP00000269844:p.Ala490Val	1					PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A161V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V	p.A490V	NM_022115.3	NP_071398.3	0	1	1	1.813308	P57071	PRD15_HUMAN		12	1579	-			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	0	1	hg19	c.1469C>T	CCDS13676.1	0	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155572	0.21454	2.27E-4	0.0	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.74	-1.94	0.07571	4.74	-1.94	0.07571	SET domain (2);	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.17653	-1.0362	9	0.32370	T	0.25	-16.3261	6.0163	0.19605	0.2206:0.0:0.5366:0.2428	.	490;161;161	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	161;161;124;124;490;124	ENSP00000408592:A161V;ENSP00000381556:A161V;ENSP00000444044:A124V;ENSP00000390245:A124V;ENSP00000269844:A490V	ENSP00000269844:A490V	A	-	2	0	0	PRDM15	42147911	42147911	0.000000	0.05858	0.005000	0.12908	0.600000	0.36913	0.115000	0.15540	-0.382000	0.07870	0.655000	0.94253	GCG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-7.393848	1	0.170000	NM_022115			7	7		318	312	0		1	0		0	0	50	0		9.795773e-01	1.664834e-02	0	0	0	8	0	7	318
C2CD2	25966	broad.mit.edu	37	21	43319445	43319445	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	529						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCATCAGGGCAGCGTCGTGGT	0.602																																						ENST00000380486.3	0.930000	0.330000	7.900000e-01	4.500000e-01	0.600000	0.623814	0.600000	0.590000																										0				15						c.(1585-1587)gcT>gcC		C2 calcium-dependent domain containing 2							33.0	38.0	36.0					21																	43319445		2080	4117	6197	SO:0001819	synonymous_variant	25966	0	0					g.chr21:43319445A>G	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1587T>C	chr21.hg19:g.43319445A>G		1					C2CD2_ENST00000329623.7_Silent_p.A374A	p.A529A	NM_015500.1	NP_056315.1	0	1	1	1.813308	Q9Y426	CU025_HUMAN		13	1828	-			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	1	1	hg19	c.1587T>C	CCDS42933.1	0	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438107	0.04636	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.96	-8.02	0.01118	4.96	-8.02	0.01118	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.39506	D	0.968282	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-14.4391	7.9098	0.29785	0.7422:0.0889:0.0808:0.0881	.	.	.	.	R	15	.	.	C	-	1	0	0	C2CD2	42192514	42192514	0.004000	0.15560	0.012000	0.15200	0.132000	0.20833	-0.528000	0.06193	-1.413000	0.02027	-0.464000	0.05259	TGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-14.668830	1	0.170000	NM_015500			11	11		180	175	0		1	1		0	0	49	0		9.982416e-01	7.460785e-01	0	3	0	42	0	11	180
C2CD2	25966	broad.mit.edu	37	21	43329596	43329596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	330	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTCTGAAATCTGCAGGTGTA	0.493																																						ENST00000380486.3	1.000000	0.610000	9.600000e-01	7.300000e-01	0.860000	0.853037	0.860000	1.000000																										0				15						c.(988-990)caG>caA		C2 calcium-dependent domain containing 2							93.0	78.0	83.0					21																	43329596		2203	4300	6503	SO:0001819	synonymous_variant	25966	0	0					g.chr21:43329596C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.990G>A	chr21.hg19:g.43329596C>T		1					C2CD2_ENST00000329623.7_Silent_p.Q175Q	p.Q330Q	NM_015500.1	NP_056315.1	0	1	1	1.813308	Q9Y426	CU025_HUMAN		8	1231	-			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	1	1	hg19	c.990G>A	CCDS42933.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_015500			28	28		292	285	0		1	1		0	0	61	0		1	8.076680e-01	0	2	0	32	0	28	292
UMODL1	89766	broad.mit.edu	37	21	43504288	43504288	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000408910.2	+	3	414	c.414C>T	c.(412-414)gaC>gaT	p.D138D	UMODL1_ENST00000408989.2_Silent_p.D138D|UMODL1_ENST00000400424.2_Silent_p.D66D|UMODL1_ENST00000400427.1_Silent_p.D66D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	138	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				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)			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						TGGACATCGACTGTCCTGGAC	0.652																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000408910.2	0.590000	0.290000	5.100000e-01	3.500000e-01	0.420000	0.437515	0.420000	0.420000																										0				47						c.(412-414)gaC>gaT		uromodulin-like 1							80.0	87.0	85.0					21																	43504288		1929	4134	6063	SO:0001819	synonymous_variant	89766	0	0					g.chr21:43504288C>T		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.414C>T	chr21.hg19:g.43504288C>T		1					UMODL1_ENST00000400427.1_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D|UMODL1_ENST00000400424.2_Silent_p.D66D	p.D138D	NM_001004416.2	NP_001004416	0	1	1	1.813308	Q5DID0	UROL1_HUMAN		3	414	+			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	1	1	hg19	c.414C>T	CCDS42936.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	0	0	1		2	2	2	0		0	0	135		135	131	1	2.060000	-4.495409	1	0.170000				29	29		698	689	0		1			0	0	135	0		1	0	0	0	0	0	0	29	698
UMODL1	89766	broad.mit.edu	37	21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000408910.2	+	5	715	c.715C>T	c.(715-717)Cct>Tct	p.P239S	UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P167S|UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	239					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)			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						ACGGCCACTGCCTGTGGCTGA	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000408910.2	1.000000	0.880000	1	9.400000e-01	0.980000	0.975796	0.980000	1.000000																										0				47						c.(715-717)Cct>Tct		uromodulin-like 1							37.0	45.0	42.0					21																	43508515		2099	4239	6338	SO:0001583	missense	89766	0	0					g.chr21:43508515C>T		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.715C>T	chr21.hg19:g.43508515C>T	ENSP00000386147:p.Pro239Ser	1					UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P167S	p.P239S	NM_001004416.2	NP_001004416	0	1	1	1.813308	Q5DID0	UROL1_HUMAN		5	715	+			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	1	1	hg19	c.715C>T	CCDS42936.1	1	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833284	0.02713	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.71103	-0.54;-0.53;-0.54;-0.53	4.11	2.1	0.27182	4.11	2.1	0.27182	.	0.338812	0.20703	N	0.087225	T	0.57489	0.2057	L	0.39633	1.23	0.19300	N	0.999975	P;B;B	0.35401	0.499;0.274;0.366	B;B;B	0.37833	0.102;0.259;0.047	T	0.42649	-0.9439	10	0.23302	T	0.38	-3.771	6.9479	0.24528	0.2053:0.6115:0.1832:0.0	.	167;239;239	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	167;167;239;239;85;85	ENSP00000383279:P167S;ENSP00000383276:P167S;ENSP00000386126:P239S;ENSP00000386147:P239S	ENSP00000369829:P85S	P	+	1	0	0	UMODL1	42381584	42381584	0.076000	0.21285	0.052000	0.19188	0.008000	0.06430	0.119000	0.15626	0.356000	0.24157	0.563000	0.77884	CCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	1	0	1		2	2	2	0		0	0	47		47	44	1	2.060000	-20.000000	1	0.170000				40	40		142	137	1		1			0	0	47	0		1	0	0	0	0	0	0	40	142
UMODL1	89766	broad.mit.edu	37	21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000408910.2	+	20	3673	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R	UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1153R|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1225	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)			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						GGAATCCCCCGGAGCCACGTG	0.453																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000408910.2	0.870000	0.380000	7.500000e-01	4.800000e-01	0.600000	0.623004	0.600000	0.600000																										0				47						c.(3673-3675)Gga>Aga		uromodulin-like 1							104.0	101.0	102.0					21																	43547924		1967	4151	6118	SO:0001583	missense	89766	2	120866	38				g.chr21:43547924G>A		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.3673G>A	chr21.hg19:g.43547924G>A	ENSP00000386147:p.Gly1225Arg	1					UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1153R	p.G1225R	NM_001004416.2	NP_001004416	0	1	1	1.813308	Q5DID0	UROL1_HUMAN		20	3673	+			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	1	1	hg19	c.3673G>A	CCDS42936.1	0	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735203	0.15574	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.56	2.65	0.31530	3.56	2.65	0.31530	Zona pellucida sperm-binding protein (3);	0.363130	0.19826	N	0.105183	T	0.74015	0.3661	L	0.34521	1.04	0.09310	N	1	P;P	0.50443	0.56;0.935	B;B	0.44163	0.112;0.443	T	0.64368	-0.6424	9	.	.	.	-3.8301	9.2905	0.37784	0.1065:0.0:0.8935:0.0	.	1353;1225	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1281;1153;1353;1225;110	ENSP00000383279:G1281R;ENSP00000383276:G1153R;ENSP00000386126:G1353R;ENSP00000386147:G1225R	.	G	+	1	0	0	UMODL1	42420993	42420993	0.672000	0.27530	0.002000	0.10522	0.130000	0.20726	2.925000	0.48884	1.048000	0.40298	0.561000	0.74099	GGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.453	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-2.578334	1	0.170000				20	20		330	327	0		1			0	0	73	0		9.999953e-01	0	0	0	0	0	0	20	330
ABCG1	9619	broad.mit.edu	37	21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000361802.2	+	8	1109	c.964G>T	c.(964-966)Gca>Tca	p.A322S	ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000398437.1_Missense_Mutation_p.A468S|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	322					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)			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)	CCACAACCCAGCAGATTTTGG	0.522																																						ENST00000361802.2	1.000000	0.970000	1	9.800000e-01	0.990000	0.997418	0.990000	1.000000																										0				29						c.(964-966)Gca>Tca		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						143.0	144.0	144.0					21																	43706095		2203	4300	6503	SO:0001583	missense	9619	0	0					g.chr21:43706095G>T	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.964G>T	chr21.hg19:g.43706095G>T	ENSP00000354995:p.Ala322Ser	1					ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000398437.1_Missense_Mutation_p.A468S	p.A322S	NM_004915.3	NP_004906.3	0	1	1	1.813308	P45844	ABCG1_HUMAN		8	1109	+			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	1	1	hg19	c.964G>T	CCDS13682.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409956|4.409956	0.83340|0.83340	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	4.03|4.03	4.03|4.03	0.46877|0.46877	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.994;1.0;0.994;0.997;0.996|.	P;D;D;D;D;D|.	0.75484|.	0.893;0.95;0.983;0.95;0.976;0.986|.	T|T	0.56505|0.56505	-0.7968|-0.7968	9|5	.|.	.|.	.|.	-18.6548|-18.6548	16.5443|16.5443	0.84410|0.84410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	333;333;322;322;319;324|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	S|I	324;319;322;322;333;468;430|57	ENSP00000381475:A324S;ENSP00000291524:A319S;ENSP00000381467:A322S;ENSP00000354995:A322S;ENSP00000339744:A333S;ENSP00000381464:A468S;ENSP00000343820:A430S|.	.|.	A|S	+|+	1|2	0|0	0|0	ABCG1|ABCG1	42579164|42579164	42579164|42579164	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.956000|0.956000	0.61745|0.61745	8.930000|8.930000	0.92872|0.92872	1.930000|1.930000	0.55929|0.55929	0.655000|0.655000	0.94253|0.94253	GCA|AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_207174			154	152		562	556	0		1	1		0	0	128	0		1	1	0	25	0	72	0	154	562
ABCG1	9619	broad.mit.edu	37	21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000361802.2	+	9	1212	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G	ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000398437.1_Missense_Mutation_p.D502G|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	356					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)			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)	CACAAGAGAGACCTCGGGGGT	0.547																																						ENST00000361802.2	1.000000	0.830000	1	9.000000e-01	0.960000	0.955517	0.960000	1.000000																										0				29						c.(1066-1068)gAc>gGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						171.0	172.0	172.0					21																	43708092		2203	4300	6503	SO:0001583	missense	9619	0	0					g.chr21:43708092A>G	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.1067A>G	chr21.hg19:g.43708092A>G	ENSP00000354995:p.Asp356Gly	1					ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000398437.1_Missense_Mutation_p.D502G	p.D356G	NM_004915.3	NP_004906.3	0	1	1	1.813308	P45844	ABCG1_HUMAN		9	1212	+			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	1	1	hg19	c.1067A>G	CCDS13682.1	1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819420	0.50633	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;D;T;D;D	0.86562	0.93;0.93;0.93;-1.97;0.93;-2.14;-2.11	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.570497	0.17962	N	0.156123	T	0.75686	0.3883	N	0.12746	0.255	0.51233	D	0.999913	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	0.001;0.002;0.001;0.003;0.002;0.001	T	0.69034	-0.5252	9	.	.	.	-25.0065	14.0615	0.64802	1.0:0.0:0.0:0.0	.	367;367;356;356;353;358	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	G	358;353;356;356;367;502;464	ENSP00000381475:D358G;ENSP00000291524:D353G;ENSP00000381467:D356G;ENSP00000354995:D356G;ENSP00000339744:D367G;ENSP00000381464:D502G;ENSP00000343820:D464G	.	D	+	2	0	0	ABCG1	42581161	42581161	0.982000	0.34865	0.557000	0.28306	0.974000	0.67602	5.067000	0.64357	1.729000	0.51567	0.383000	0.25322	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	0	0	1		16	4	2	1		1	1	245		245	242	1	2.060000	-20.000000	1	0.170000	NM_207174			105	104		948	925	1		1	1		1	0	245	0		1	9.987290e-01	0	19	0	107	0	105	948
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398437.1_Silent_p.F752F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.F596F	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																																						ENST00000361802.2	1.000000	0.910000	1	9.600000e-01	0.990000	0.985458	0.990000	1.000000																										4	Substitution - coding silent(4)	p.F596F(2)|p.F606F(2)	large_intestine(4)	29						c.(1816-1818)ttC>ttT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						110.0	90.0	97.0					21																	43716283		2203	4300	6503	SO:0001819	synonymous_variant	9619	0	0					g.chr21:43716283C>T	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	chr21.hg19:g.43716283C>T		1					ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398437.1_Silent_p.F752F	p.F606F	NM_004915.3	NP_004906.3	0	1	1	1.813308	P45844	ABCG1_HUMAN		15	1963	+			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	1	1	hg19	c.1818C>T	CCDS13682.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.865706	1	0.170000	NM_207174			58	57		205	202	0		1	1		0	0	50	0		1	1	0	26	0	91	0	58	205
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)				cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507																																						ENST00000291527.2	1.000000	0.860000	1	9.300000e-01	0.970000	0.971154	0.970000	1.000000																										0				2						c.(115-117)caG>caA		trefoil factor 1							78.0	69.0	72.0					21																	43783485		2203	4300	6503	SO:0001819	synonymous_variant	7031	0	0					g.chr21:43783485C>T	BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"""breast cancer, estrogen-inducible sequence expressed in"""	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.117G>A	chr21.hg19:g.43783485C>T		1						p.Q39Q	NM_003225.2	NP_003216.1	0	1	1	1.813308	P04155	TFF1_HUMAN		2	215	-				Silent	SNP	ENST00000291527.2	1	1	hg19	c.117G>A	CCDS13685.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003225			38	37		157	151	0		1	1		0	0	50	0		1	1	0	1002	0	502	0	38	157
TMPRSS3	64699	broad.mit.edu	37	21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627																																						ENST00000291532.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.999101	0.990000	1.000000																										0				13						c.(1117-1119)aGg>aTg		transmembrane protease, serine 3							185.0	165.0	172.0					21																	43796726		2203	4300	6503	SO:0001583	missense	64699	0	0					g.chr21:43796726C>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1118G>T	chr21.hg19:g.43796726C>A	ENSP00000291532:p.Arg373Met	1					TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M	p.R373M	NM_032404.2	NP_115780.1	0	1	1	1.813308	P57727	TMPS3_HUMAN		11	2073	-			D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	1	1	hg19	c.1118G>T	CCDS13686.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720711	0.68959	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.94	3.84	0.44239	4.94	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135322	0.48286	D	0.000181	D	0.88228	0.6380	L	0.39085	1.19	0.28890	N	0.893885	P;P;D	0.55800	0.928;0.916;0.973	P;P;P	0.56960	0.667;0.726;0.81	T	0.82323	-0.0514	9	.	.	.	.	10.8134	0.46559	0.0:0.8328:0.0:0.1672	.	372;373;370	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	M	373;372;370;457	ENSP00000291532:R373M;ENSP00000411013:R372M;ENSP00000381442:R370M;ENSP00000369762:R457M	.	R	-	2	0	0	TMPRSS3	42669795	42669795	0.972000	0.33761	1.000000	0.80357	0.953000	0.61014	2.005000	0.40864	2.269000	0.75478	0.591000	0.81541	AGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	1	0	1		2	2	2	0		0	0	204		204	202	1	2.060000	-4.344584	1	0.170000				226	220		768	747	1		1	1		0	0	204	0		1	1	0	165	0	90	0	226	768
TMPRSS3	64699	broad.mit.edu	37	21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	3					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493																																						ENST00000291532.3	0.990000	0.440000	9.100000e-01	5.900000e-01	0.750000	0.754255	0.750000	0.780000																										0				13						c.(7-9)Gaa>Aaa		transmembrane protease, serine 3							103.0	88.0	93.0					21																	43815520		2203	4300	6503	SO:0001583	missense	64699	1	121412	28				g.chr21:43815520C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.7G>A	chr21.hg19:g.43815520C>T	ENSP00000291532:p.Glu3Lys	1					TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K	p.E3K	NM_032404.2	NP_115780.1	0	1	1	1.813308	P57727	TMPS3_HUMAN		2	962	-			D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	1	1	hg19	c.7G>A	CCDS13686.1	0	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403758	0.62288	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.89270	-2.42;-2.43;-2.42;-2.32;-2.49	5.39	4.49	0.54785	5.39	4.49	0.54785	.	0.196987	0.34603	N	0.003830	D	0.88607	0.6482	N	0.24115	0.695	0.33055	D	0.533259	D;D;D	0.67145	0.996;0.996;0.993	P;D;D	0.76071	0.895;0.987;0.971	D	0.88057	0.2791	9	.	.	.	.	10.577	0.45233	0.0:0.9064:0.0:0.0936	.	3;3;3	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	K	3;3;3;87;3	ENSP00000291532:E3K;ENSP00000411013:E3K;ENSP00000381442:E3K;ENSP00000369762:E87K;ENSP00000381434:E3K	.	E	-	1	0	0	TMPRSS3	42688589	42688589	0.990000	0.36364	0.993000	0.49108	0.852000	0.48524	2.010000	0.40913	2.691000	0.91804	0.655000	0.94253	GAA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.075851	1	0.170000				13	13		158	157	1		1	1		0	0	45	0		9.995842e-01	9.999984e-01	0	118	0	225	0	13	158
UBASH3A	53347	broad.mit.edu	37	21	43846890	43846890	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000291535.6_Silent_p.P339P|UBASH3A_ENST00000398367.1_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	377					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AATTTCTTCCACAAACGGCAA	0.448																																						ENST00000319294.6	1.000000	0.930000	1	9.700000e-01	0.990000	0.990585	0.990000	1.000000																										0				28						c.(1129-1131)ccA>ccG		ubiquitin associated and SH3 domain containing A							115.0	102.0	106.0					21																	43846890		2203	4300	6503	SO:0001819	synonymous_variant	53347	0	0					g.chr21:43846890A>G	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.1131A>G	chr21.hg19:g.43846890A>G		1					UBASH3A_ENST00000398367.1_Silent_p.P339P|UBASH3A_ENST00000291535.6_Silent_p.P339P	p.P377P	NM_018961.3	NP_061834.1	0	1	1	1.813308	P57075	UBS3A_HUMAN		8	1162	+			G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	1	1	hg19	c.1131A>G	CCDS13687.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_001001895			78	78		283	281	1		1	0		0	0	86	0		1	6.698503e-01	0	1	0	9	0	78	283
PDE9A	5152	broad.mit.edu	37	21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	84					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)			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)	TGGCCATCAAGCAACTCTCCG	0.468																																						ENST00000291539.6	0.820000	0.330000	6.900000e-01	4.300000e-01	0.550000	0.571177	0.550000	0.540000																										0				27						c.(250-252)aaG>aaT		phosphodiesterase 9A	Caffeine(DB00201)						93.0	84.0	87.0					21																	44119111		2203	4300	6503	SO:0001583	missense	5152	0	0					g.chr21:44119111G>T	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.252G>T	chr21.hg19:g.44119111G>T	ENSP00000291539:p.Lys84Asn	1					PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S	p.K84N	NM_002606.2	NP_002597.1	0	1	1	1.813308	O76083	PDE9A_HUMAN		4	312	+			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	1	1	hg19	c.252G>T	CCDS13690.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.981|9.981	1.228164|1.228164	0.22542|0.22542	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000380328;ENST00000335440;ENST00000349112|ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	T;T;T|T;T;T;T;T;T;T;T	0.68765|0.69435	-0.28;-0.35;-0.26|-0.37;-0.38;-0.39;-0.38;-0.33;-0.37;-0.4;-0.33	4.19|4.19	2.18|2.18	0.27775|0.27775	4.19|4.19	2.18|2.18	0.27775|0.27775	.|.	.|4.256290	.|0.01036	.|U	.|0.004236	T|T	0.75042|0.75042	0.3796|0.3796	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;B;B;B;D;B;B;B;B	0.32101|0.76494	0.229;0.356;0.356|0.999;0.001;0.001;0.001;0.999;0.001;0.002;0.0;0.002	B;B;B|D;B;B;B;D;B;B;B;B	0.32090|0.78314	0.099;0.14;0.14|0.991;0.002;0.002;0.004;0.991;0.002;0.004;0.001;0.004	T|T	0.69101|0.69101	-0.5234|-0.5234	8|9	0.27082|0.17369	T|T	0.32|0.5	.|.	5.1173|5.1173	0.14840|0.14840	0.2781:0.0:0.7219:0.0|0.2781:0.0:0.7219:0.0	.|.	35;61;110|17;58;43;58;43;36;84;17;84	O76083-4;O76083-12;O76083-5|O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-3;O76083	.;.;.|.;.;.;.;.;.;.;.;PDE9A_HUMAN	S|N	110;61;35|84;84;17;43;58;58;43;17	ENSP00000369685:A110S;ENSP00000335365:A61S;ENSP00000344730:A35S|ENSP00000335242:K84N;ENSP00000291539:K84N;ENSP00000381287:K17N;ENSP00000381289:K43N;ENSP00000381291:K58N;ENSP00000328699:K58N;ENSP00000381281:K43N;ENSP00000381280:K17N	ENSP00000335365:A61S|ENSP00000291539:K84N	A|K	+|+	1|3	0|2	0|2	PDE9A|PDE9A	42992180|42992180	42992180|42992180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.671000|1.671000	0.37513|0.37513	0.984000|0.984000	0.38629|0.38629	0.514000|0.514000	0.50259|0.50259	GCA|AAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.468	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-18.754130	1	0.170000				17	17		310	305	0		1	0		0	0	59	0		9.999639e-01	4.510600e-01	0	0	0	28	0	17	310
WDR4	10785	broad.mit.edu	37	21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000330317.2_Missense_Mutation_p.P328L|WDR4_ENST00000492742.1_5'UTR	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											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)		GGTGCTCTCAGGAACAGACTG	0.567																																						ENST00000398208.2	1.000000	0.860000	1	9.300000e-01	0.980000	0.972090	0.980000	1.000000																										0				11						c.(982-984)cCt>cTt		WD repeat domain 4							80.0	63.0	69.0					21																	44272427		2203	4300	6503	SO:0001583	missense	10785	0	0					g.chr21:44272427G>A	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.983C>T	chr21.hg19:g.44272427G>A	ENSP00000381266:p.Pro328Leu	1					WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.P328L	p.P328L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	0	1	1	1.813308				10	1042	-				Missense_Mutation	SNP	ENST00000398208.2	1	1	hg19	c.983C>T	CCDS13691.1	1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875627	0.33162	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60171	0.21;0.21	4.12	3.21	0.36854	4.12	3.21	0.36854	.	0.441052	0.24054	N	0.041971	T	0.47432	0.1445	M	0.62723	1.935	0.20403	N	0.999908	B;B	0.33583	0.418;0.07	B;B	0.31101	0.124;0.014	T	0.30416	-0.9979	10	0.11485	T	0.65	-3.186	9.7814	0.40651	0.0:0.2104:0.7896:0.0	.	327;328	P57081-2;P57081	.;WDR4_HUMAN	L	328	ENSP00000328671:P328L;ENSP00000381266:P328L	ENSP00000328671:P328L	P	-	2	0	0	WDR4	43145496	43145496	0.782000	0.28689	0.264000	0.24511	0.026000	0.11368	1.200000	0.32247	1.048000	0.40298	0.655000	0.94253	CCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1	1	0	1		2	2	2	0		0	0	29		29	26	1	2.060000	-20.000000	1	0.170000				33	33		99	98	1		1	1		0	0	29	0		1	9.298688e-01	0	7	0	9	0	33	99
PKNOX1	5316	broad.mit.edu	37	21	44433326	44433326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	ENST00000291547.5	+	5	711	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	167					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCTGGAAGCCCGTACTCACCA	0.473																																						ENST00000291547.5	1.000000	0.640000	9.700000e-01	7.500000e-01	0.870000	0.863319	0.870000	1.000000																										0				22						c.(499-501)cCg>cTg		PBX/knotted 1 homeobox 1							92.0	94.0	93.0					21																	44433326		2203	4300	6503	SO:0001583	missense	5316	1	121412	36				g.chr21:44433326C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.500C>T	chr21.hg19:g.44433326C>T	ENSP00000291547:p.Pro167Leu	1					PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	p.P167L	NM_004571.3	NP_004562.2	0	1	1	1.813308	P55347	PKNX1_HUMAN		5	711	+			O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	1	1	hg19	c.500C>T	CCDS13692.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943085	0.92526	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;D	0.86562	1.71;-2.14	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.963	D	0.92313	0.5859	10	0.48119	T	0.1	-12.5469	19.5829	0.95475	0.0:1.0:0.0:0.0	.	167;167;167	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	167;50	ENSP00000291547:P167L;ENSP00000402243:P50L	ENSP00000291547:P167L	P	+	2	0	0	PKNOX1	43306395	43306395	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.690000	0.68241	2.636000	0.89361	0.561000	0.74099	CCG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3	0	0	1		17	5	2	1		1	1	78		78	77	1	2.060000	-2.196578	0	0.170000				33	33		343	336	0		1	0		1	0	78	0		9.924597e-01	6.479142e-01	0	4	0	58	0	33	343
CBS	875	broad.mit.edu	37	21	44486459	44486459	+	Silent	SNP	G	G	A	rs374438247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	115					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627																																						ENST00000398165.3	1.000000	0.790000	1	8.800000e-01	0.950000	0.944690	0.950000	1.000000																										0				17						c.(343-345)ggC>ggT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	G	,,	1,4405	2.1+/-5.4	0,1,2202	69.0	63.0	65.0		345,345,345	-3.3	1.0	21		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	115/552,115/552,115/552	44486459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	875	3	121408	35				g.chr21:44486459G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.345C>T	chr21.hg19:g.44486459G>A		1					CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR	p.G115G	NM_000071.2	NP_000062.1	0	1	1	1.813308	P35520	CBS_HUMAN		5	604	-			B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	1	1	hg19	c.345C>T	CCDS13693.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-17.524270	1	0.170000	NM_000071			50	50		401	394	1		1	0		0	0	88	0		1	9.631057e-01	0	0	0	45	0	50	401
CRYAA	1409	broad.mit.edu	37	21	44589368	44589368	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	53					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637																																						ENST00000291554.2	1.000000	0.800000	1	8.800000e-01	0.950000	0.944570	0.950000	1.000000																										0				11						c.(157-159)ttC>ttT		crystallin, alpha A							135.0	124.0	127.0					21																	44589368		2203	4300	6503	SO:0001819	synonymous_variant	1409	8	121412	44				g.chr21:44589368C>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.159C>T	chr21.hg19:g.44589368C>T		1					CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_5'Flank	p.F53F	NM_000394.2	NP_000385.1	0	1	1	1.813308	P02489	CRYAA_HUMAN		1	251	+			Q53X53	Silent	SNP	ENST00000291554.2	1	1	hg19	c.159C>T	CCDS13695.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-19.983940	1	0.170000				73	70		650	633	1		1			0	0	146	0		1	0	0	0	0	0	0	73	650
SIK1	150094	broad.mit.edu	37	21	44839359	44839359	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1						cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCTGAGGCACCTGGGGCCGGC	0.627																																						ENST00000270162.6	1.000000	0.880000	1	9.400000e-01	0.980000	0.977342	0.980000	1.000000																										0				21						c.e10-1		salt-inducible kinase 1	Dabrafenib(DB08912)						41.0	45.0	44.0					21																	44839359		2202	4300	6502	SO:0001630	splice_region_variant	150094	0	0					g.chr21:44839359C>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1120-1G>T	chr21.hg19:g.44839359C>A		1							NM_173354.3	NP_775490.2	0	1	1	1.813308	P57059	SIK1_HUMAN		10	1252	-			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Splice_Site	SNP	ENST00000270162.6	1	1	hg19		CCDS33575.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236820	0.39498	.	.	ENSG00000142178	ENST00000270162	.	.	.	5.16	5.16	0.70880	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SIK1	43663787	43663787	1.000000	0.71417	0.738000	0.30950	0.167000	0.22549	4.725000	0.61979	2.400000	0.81607	0.561000	0.74099	.	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_173354	Intron		49	49		220	218	1		1	1		0	0	39	0		1	3.797140e-01	0	6	0	1	0	49	220
HSF2BP	11077	broad.mit.edu	37	21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	94					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483																																						ENST00000291560.2	1.000000	0.620000	9.600000e-01	7.400000e-01	0.860000	0.855712	0.860000	1.000000																										0				7						c.(280-282)aGa>aAa		heat shock transcription factor 2 binding protein							153.0	123.0	133.0					21																	45064180		2203	4300	6503	SO:0001583	missense	11077	0	0					g.chr21:45064180C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.281G>A	chr21.hg19:g.45064180C>T	ENSP00000291560:p.Arg94Lys	1					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	p.R94K	NM_007031.1	NP_008962.1	0	1	1	1.813308	O75031	HSF2B_HUMAN		4	612	-			B4DX36	Missense_Mutation	SNP	ENST00000291560.2	1	1	hg19	c.281G>A	CCDS13697.1	1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276662	0.05679	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	1.14	0.20703	5.48	1.14	0.20703	.	0.443449	0.26832	N	0.022271	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.10377	T	0.69	-22.739	9.5457	0.39279	0.0:0.5966:0.0:0.4034	.	94	O75031	HSF2B_HUMAN	K	94;19;94	.	ENSP00000291560:R94K	R	-	2	0	0	HSF2BP	43888608	43888608	0.015000	0.18098	0.019000	0.16419	0.119000	0.20118	0.153000	0.16323	0.298000	0.22638	0.655000	0.94253	AGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.075755	1	0.170000	NM_007031			30	28		314	311	0		1	1		0	0	62	0		1	1.260655e-01	0	2	0	5	0	30	314
HSF2BP	11077	broad.mit.edu	37	21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	84					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458																																						ENST00000291560.2	0.980000	0.540000	9.000000e-01	6.500000e-01	0.770000	0.778793	0.770000	0.780000																										0				7						c.(250-252)cGc>cAc		heat shock transcription factor 2 binding protein							164.0	147.0	153.0					21																	45064210		2203	4300	6503	SO:0001583	missense	11077	18	121412	42				g.chr21:45064210C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.251G>A	chr21.hg19:g.45064210C>T	ENSP00000291560:p.Arg84His	1					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	p.R84H	NM_007031.1	NP_008962.1	0	1	1	1.813308	O75031	HSF2B_HUMAN		4	582	-			B4DX36	Missense_Mutation	SNP	ENST00000291560.2	1	1	hg19	c.251G>A	CCDS13697.1	0	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848928	0.91277	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.057115	0.64402	D	0.000001	T	0.71771	0.3379	M	0.63428	1.95	0.54753	D	0.999988	D	0.63046	0.992	P	0.53861	0.736	T	0.75033	-0.3460	9	0.72032	D	0.01	-10.2094	17.1439	0.86761	0.0:1.0:0.0:0.0	.	84	O75031	HSF2B_HUMAN	H	84;9;84	.	ENSP00000291560:R84H	R	-	2	0	0	HSF2BP	43888638	43888638	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.549000	0.45803	2.576000	0.86940	0.655000	0.94253	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-8.273063	1	0.170000	NM_007031			31	29		389	384	0		1	0		0	0	77	0		1	4.959484e-02	0	1	0	4	0	31	389
PDXK	8566	broad.mit.edu	37	21	45173522	45173522	+	Silent	SNP	C	C	T	rs200762097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	227					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607													c|||	2	0.000399361	0.0	0.0	5008	,	,		21044	0.002		0.0	False		,,,				2504	0.0					ENST00000291565.4	1.000000	0.730000	9.900000e-01	8.400000e-01	0.930000	0.923140	0.930000	1.000000																										0				5						c.(679-681)gaC>gaT		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)	T		1,4405	2.1+/-5.4	0,1,2202	212.0	161.0	178.0		681	-4.8	0.6	21		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDXK	NM_003681.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		227/313	45173522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8566	3	121408	40				g.chr21:45173522C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.681C>T	chr21.hg19:g.45173522C>T		1					PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	p.D227D	NM_003681.4	NP_003672.1	0	1	1	1.813308	O00764	PDXK_HUMAN		9	864	+			Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	1	1	hg19	c.681C>T	CCDS13699.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_003681			26	25		186	185	1		1	1		0	0	38	0		9.999999e-01	1	0	74	0	497	0	26	186
PDXK	8566	broad.mit.edu	37	21	45175635	45175635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000468090.1_Silent_p.Q244Q|PDXK_ENST00000467908.1_Silent_p.Q232Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	272					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622																																						ENST00000291565.4	1.000000	0.780000	1	8.700000e-01	0.940000	0.938017	0.940000	1.000000																										0				5						c.(814-816)caG>caA		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						122.0	92.0	103.0					21																	45175635		2203	4300	6503	SO:0001819	synonymous_variant	8566	0	0					g.chr21:45175635G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.816G>A	chr21.hg19:g.45175635G>A		1					PDXK_ENST00000468090.1_Silent_p.Q244Q|PDXK_ENST00000467908.1_Silent_p.Q232Q	p.Q272Q	NM_003681.4	NP_003672.1	0	1	1	1.813308	O00764	PDXK_HUMAN		10	999	+			Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	1	1	hg19	c.816G>A	CCDS13699.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.622	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_003681			48	47		398	391	0		1	1		0	0	99	0		1	1	0	99	0	501	0	48	398
AGPAT3	56894	broad.mit.edu	37	21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	10					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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGAAGACCCAGTTCGTGCTGC	0.642																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2	1.000000	0.960000	1	9.800000e-01	0.990000	0.996212	0.990000	1.000000																										0				11						c.(28-30)caG>caT		1-acylglycerol-3-phosphate O-acyltransferase 3							129.0	99.0	109.0					21																	45379592		2203	4300	6503	SO:0001583	missense	56894	0	0					g.chr21:45379592G>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.30G>T	chr21.hg19:g.45379592G>T	ENSP00000381140:p.Gln10His	1					AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H	p.Q10H	NM_001037553.1	NP_001032642.1	0	1	1	1.813308	Q9NRZ7	PLCC_HUMAN		2	522	+			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	1	1	hg19	c.30G>T	CCDS13703.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215506	0.39102	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000448845;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.44881	1.49;1.49;1.49;1.49;1.49;0.91;0.91;1.49	4.43	3.54	0.40534	4.43	3.54	0.40534	.	2.255560	0.01928	N	0.040995	T	0.46132	0.1377	L	0.57536	1.79	0.40417	D	0.979809	B	0.20671	0.047	B	0.23419	0.046	T	0.21314	-1.0249	10	0.15066	T	0.55	-7.4377	13.7342	0.62807	0.0:0.0:0.8447:0.1553	.	10	Q9NRZ7	PLCC_HUMAN	H	10	ENSP00000291572:Q10H;ENSP00000381138:Q10H;ENSP00000332989:Q10H;ENSP00000381140:Q10H;ENSP00000381135:Q10H;ENSP00000413906:Q10H;ENSP00000414440:Q10H;ENSP00000443510:Q10H	ENSP00000291572:Q10H	Q	+	3	2	2	AGPAT3	44204020	44204020	1.000000	0.71417	0.972000	0.41901	0.513000	0.34164	3.553000	0.53713	0.843000	0.35070	0.398000	0.26397	CAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_020132			123	124		413	408	1		1	1		0	0	142	0		1	9.999991e-01	0	17	0	52	0	123	413
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2	1.000000	0.890000	1	9.400000e-01	0.980000	0.976602	0.980000	1.000000																										1	Substitution - Missense(1)	p.R353C(1)	large_intestine(1)	11						c.(1057-1059)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 3							146.0	159.0	155.0					21																	45402199		2203	4300	6503	SO:0001583	missense	56894	0	0					g.chr21:45402199C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1057C>T	chr21.hg19:g.45402199C>T	ENSP00000381140:p.Arg353Cys	1					AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C	p.R353C	NM_001037553.1	NP_001032642.1	0	1	1	1.813308	Q9NRZ7	PLCC_HUMAN		9	1549	+			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	1	1	hg19	c.1057C>T	CCDS13703.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	0	AGPAT3	44226627	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	0	0	0		14	4	2	1		1	1	262		262	261	1	2.060000	-20.000000	1	0.170000	NM_020132			108	104		834	818	1		1	1		1	0	262	0		1	9.999900e-01	0	21	0	144	0	108	834
TRAPPC10	7109	broad.mit.edu	37	21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	307					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.R307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587																																						ENST00000291574.4	1.000000	0.930000	1	9.700000e-01	0.990000	0.989382	0.990000	1.000000																										1	Substitution - Missense(1)	p.R307C(1)	central_nervous_system(1)	41						c.(919-921)Cgc>Tgc		trafficking protein particle complex 10							127.0	117.0	121.0					21																	45483547		2203	4300	6503	SO:0001583	missense	7109	0	0					g.chr21:45483547C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.919C>T	chr21.hg19:g.45483547C>T	ENSP00000291574:p.Arg307Cys	1						p.R307C	NM_003274.4	NP_003265.3	0	1	1	1.813308	P48553	TPC10_HUMAN		7	1094	+			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	1	1	hg19	c.919C>T	CCDS13704.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559292	0.86335	.	.	ENSG00000160218	ENST00000291574	T	0.49432	0.78	5.74	4.85	0.62838	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79771	-0.1663	10	0.87932	D	0	.	14.9421	0.71003	0.0:0.9309:0.0:0.0691	.	307	P48553	TPC10_HUMAN	C	307	ENSP00000291574:R307C	ENSP00000291574:R307C	R	+	1	0	0	TRAPPC10	44307975	44307975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	1.422000	0.47177	0.655000	0.94253	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_003274			83	83		369	360	1		1	1		0	0	92	0		1	9.999930e-01	0	24	0	54	0	83	369
TRAPPC10	7109	broad.mit.edu	37	21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	884					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577																																						ENST00000291574.4	1.000000	0.930000	1	9.700000e-01	0.990000	0.989626	0.990000	1.000000																										0				41						c.(2650-2652)tCt>tTt		trafficking protein particle complex 10							107.0	92.0	97.0					21																	45507691		2203	4300	6503	SO:0001583	missense	7109	0	0					g.chr21:45507691C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2651C>T	chr21.hg19:g.45507691C>T	ENSP00000291574:p.Ser884Phe	1						p.S884F	NM_003274.4	NP_003265.3	0	1	1	1.813308	P48553	TPC10_HUMAN		17	2826	+			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	1	1	hg19	c.2651C>T	CCDS13704.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491547	0.44249	.	.	ENSG00000160218	ENST00000291574	T	0.23552	1.9	4.9	3.95	0.45737	4.9	3.95	0.45737	.	0.114895	0.64402	D	0.000015	T	0.13030	0.0316	N	0.14661	0.345	0.39632	D	0.970182	B	0.25955	0.138	B	0.17979	0.02	T	0.08513	-1.0718	10	0.40728	T	0.16	.	7.5482	0.27778	0.2916:0.5759:0.1325:0.0	.	884	P48553	TPC10_HUMAN	F	884	ENSP00000291574:S884F	ENSP00000291574:S884F	S	+	2	0	0	TRAPPC10	44332119	44332119	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	3.821000	0.55700	2.267000	0.75376	0.563000	0.77884	TCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.577	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.532378	1	0.170000	NM_003274			74	74		272	269	1		1	1		0	0	75	0		1	9.999889e-01	0	14	0	50	0	74	272
TRAPPC10	7109	broad.mit.edu	37	21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1129					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592																																						ENST00000291574.4	1.000000	0.960000	1	9.800000e-01	0.990000	0.996972	0.990000	1.000000																										0				41						c.(3385-3387)agC>agA		trafficking protein particle complex 10							166.0	158.0	161.0					21																	45522699		2203	4300	6503	SO:0001583	missense	7109	0	0					g.chr21:45522699C>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3387C>A	chr21.hg19:g.45522699C>A	ENSP00000291574:p.Ser1129Arg	1						p.S1129R	NM_003274.4	NP_003265.3	0	1	1	1.813308	P48553	TPC10_HUMAN		22	3562	+			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	1	1	hg19	c.3387C>A	CCDS13704.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655720	0.67586	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26660	1.72	5.49	-0.441	0.12257	5.49	-0.441	0.12257	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.34875	-0.9811	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.6282:0.0:0.3718	.	388;1129	B4DI17;P48553	.;TPC10_HUMAN	R	1129;260	ENSP00000291574:S1129R	ENSP00000291574:S1129R	S	+	3	2	2	TRAPPC10	44347127	44347127	0.437000	0.25593	0.954000	0.39281	0.922000	0.55478	-0.330000	0.07925	-0.043000	0.13513	-0.345000	0.07892	AGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.592	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1		2	2	2	0		0	0	199		199	195	1	2.060000	-20.000000	1	0.170000	NM_003274			160	157		688	680	1		1	1		0	0	199	0		1	1	0	28	0	91	0	160	688
PWP2	5822	broad.mit.edu	37	21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGCTATCATCGTCGATGAAGG	0.587																																						ENST00000291576.7	1.000000	0.830000	1	9.100000e-01	0.970000	0.962258	0.970000	1.000000																										0				21						c.(217-219)Gtc>Atc		PWP2 periodic tryptophan protein homolog (yeast)							59.0	50.0	53.0					21																	45533719		2202	4300	6502	SO:0001583	missense	5822	1	121394	29				g.chr21:45533719G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.217G>A	chr21.hg19:g.45533719G>A	ENSP00000291576:p.Val73Ile	1						p.V73I	NM_005049.2	NP_005040.2	0	1	1	1.813308	Q15269	PWP2_HUMAN		3	344	+			B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	1	1	hg19	c.217G>A	CCDS33579.1	1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938033	0.34189	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	T;T	0.42513	0.97;1.49	4.33	3.16	0.36331	4.33	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165612	0.40818	N	0.001018	T	0.26919	0.0659	L	0.31065	0.9	0.36215	D	0.851596	B	0.22003	0.063	B	0.12837	0.008	T	0.20140	-1.0284	10	0.25106	T	0.35	0.0094	9.1753	0.37107	0.1912:0.0:0.8088:0.0	.	73	Q15269	PWP2_HUMAN	I	73	ENSP00000291576:V73I;ENSP00000411749:V73I	ENSP00000291576:V73I	V	+	1	0	0	PWP2	44358147	44358147	0.940000	0.31905	0.996000	0.52242	0.039000	0.13416	1.504000	0.35726	2.148000	0.66965	0.313000	0.20887	GTC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_005049			34	34		165	163	1		1	1		0	0	36	0		1	9.962050e-01	0	15	0	30	0	34	165
ICOSLG	23308	broad.mit.edu	37	21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T	rs368372298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	32	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498																																						ENST00000407780.3	1.000000	0.750000	9.900000e-01	8.500000e-01	0.940000	0.928615	0.940000	1.000000																										0				5						c.(94-96)Gac>Aac		inducible T-cell co-stimulator ligand							76.0	83.0	81.0					21																	45657062		2085	4227	6312	SO:0001583	missense	23308	0	0					g.chr21:45657062C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.94G>A	chr21.hg19:g.45657062C>T	ENSP00000384432:p.Asp32Asn	1					ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	p.D32N	NM_001283052.1	NP_001269981.1	0	1	1	1.813308	O75144	ICOSL_HUMAN		3	221	-			A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	1	1	hg19	c.94G>A	CCDS42952.1	1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717906	0.15372	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.62232	0.04;0.04;0.04	4.68	-4.85	0.03142	4.68	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.445410	0.04345	N	0.354666	T	0.41971	0.1182	N	0.21373	0.66	0.09310	N	1	B;B	0.34147	0.438;0.438	B;B	0.26310	0.068;0.068	T	0.24584	-1.0156	10	0.12430	T	0.62	.	12.777	0.57455	0.0:0.2087:0.0:0.7913	.	32;32	A0N0L8;O75144	.;ICOSL_HUMAN	N	32	ENSP00000339477:D32N;ENSP00000384432:D32N;ENSP00000383230:D32N	ENSP00000339477:D32N	D	-	1	0	0	ICOSLG	44481490	44481490	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.503000	0.06383	-1.045000	0.03250	-0.150000	0.13652	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_015259			41	40		343	335	1		1	0		0	0	76	0		1	7.631050e-01	0	0	0	25	0	41	343
DNMT3L	29947	broad.mit.edu	37	21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000418993.1	-	12	1522	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A348T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	347					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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567																																						ENST00000418993.1	1.000000	0.880000	1	9.400000e-01	0.980000	0.975167	0.980000	1.000000																										0				11						c.(1039-1041)Gcc>Acc		DNA (cytosine-5-)-methyltransferase 3-like							42.0	41.0	41.0					21																	45666402		2203	4299	6502	SO:0001583	missense	29947	0	0					g.chr21:45666402C>T	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.1039G>A	chr21.hg19:g.45666402C>T	ENSP00000412862:p.Ala347Thr	1					DNMT3L_ENST00000270172.3_Missense_Mutation_p.A348T	p.A347T	NM_175867.2	NP_787063.1	0	1	1	1.813308	Q9UJW3	DNM3L_HUMAN		12	1522	-			E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	1	1	hg19	c.1039G>A	CCDS46650.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974906|0.974906	0.18736|0.18736	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.30714|.	1.52;1.52|.	4.17|4.17	2.25|2.25	0.28309|0.28309	4.17|4.17	2.25|2.25	0.28309|0.28309	.|.	0.630018|.	0.15606|.	N|.	0.253672|.	T|.	0.36303|.	0.0962|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.22683|.	0.073;0.073|.	B;B|.	0.15870|.	0.014;0.014|.	T|.	0.22312|.	-1.0220|.	10|.	0.08837|.	T|.	0.75|.	-1.1886|-1.1886	10.0246|10.0246	0.42063|0.42063	0.0:0.8047:0.0:0.1953|0.0:0.8047:0.0:0.1953	.|.	348;347|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|X	348;347|141	ENSP00000270172:A348T;ENSP00000412862:A347T|.	ENSP00000270172:A348T|.	A|W	-|-	1|3	0|0	0|0	DNMT3L|DNMT3L	44490830|44490830	44490830|44490830	0.054000|0.054000	0.20591|0.20591	0.007000|0.007000	0.13788|0.13788	0.172000|0.172000	0.22775|0.22775	0.008000|0.008000	0.13197|0.13197	0.018000|0.018000	0.15052|0.15052	-0.797000|-0.797000	0.03246|0.03246	GCC|TGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_013369			46	44		209	205	1		1			0	0	53	0		1	0	0	0	0	0	0	46	209
DNMT3L	29947	broad.mit.edu	37	21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000418993.1	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N139K	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	139	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637																																						ENST00000418993.1	0.990000	0.390000	9.000000e-01	5.400000e-01	0.720000	0.726188	0.720000	0.760000																										0				11						c.(415-417)aaC>aaA		DNA (cytosine-5-)-methyltransferase 3-like							38.0	39.0	39.0					21																	45678505		2200	4300	6500	SO:0001583	missense	29947	0	0					g.chr21:45678505G>T	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.417C>A	chr21.hg19:g.45678505G>T	ENSP00000412862:p.Asn139Lys	1					DNMT3L_ENST00000270172.3_Missense_Mutation_p.N139K	p.N139K	NM_175867.2	NP_787063.1	0	1	1	1.813308	Q9UJW3	DNM3L_HUMAN		6	900	-			E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	1	1	hg19	c.417C>A	CCDS46650.1	0	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974125	0.34848	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76060	-0.99;-0.99;-0.99	3.61	0.579	0.17397	3.61	0.579	0.17397	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.541236	0.19810	N	0.105545	T	0.58524	0.2128	L	0.31207	0.915	0.23271	N	0.998008	P;P	0.49961	0.93;0.93	P;P	0.45856	0.495;0.495	T	0.50792	-0.8786	10	0.34782	T	0.22	-19.8175	3.1666	0.06538	0.2642:0.2316:0.5042:0.0	.	139;139	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	K	139;139;124	ENSP00000270172:N139K;ENSP00000412862:N139K;ENSP00000400242:N124K	ENSP00000270172:N139K	N	-	3	2	2	DNMT3L	44502933	44502933	0.757000	0.28394	0.991000	0.47740	0.982000	0.71751	-0.026000	0.12392	0.286000	0.22352	0.561000	0.74099	AAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-15.196090	1	0.170000	NM_013369			10	10		126	124	0		1			0	0	28	0		9.970101e-01	0	0	0	0	0	0	10	126
AIRE	326	broad.mit.edu	37	21	45713016	45713016	+	Silent	SNP	G	G	A	rs373985995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	ENST00000291582.5	+	10	1363	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	AIRE_ENST00000355347.4_Silent_p.S205S|AIRE_ENST00000329347.4_Missense_Mutation_p.R178Q	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	412					humoral immune response (GO:0006959)|immune response (GO:0006955)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGGACTCCTCGGCCCTGCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				G|||	1	0.000199681	0.0008	0.0	5008	,	,		10674	0.0		0.0	False		,,,				2504	0.0					ENST00000291582.5	1.000000	0.570000	9.800000e-01	7.500000e-01	0.890000	0.871655	0.890000	1.000000																										0				14						c.(1234-1236)tcG>tcA		autoimmune regulator		G	,	1,4345		0,1,2172	19.0	21.0	20.0		1236,645	-10.1	0.0	21		20	0,8572		0,0,4286	no	coding-synonymous,coding-synonymous	AIRE	NM_000383.2,NM_000658.2	,	0,1,6458	AA,AG,GG		0.0,0.023,0.0077	,	412/546,215/349	45713016	1,12917	2173	4286	6459	SO:0001819	synonymous_variant	326	4	119944	30	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	g.chr21:45713016G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1236G>A	chr21.hg19:g.45713016G>A		1					AIRE_ENST00000329347.4_Missense_Mutation_p.R178Q|AIRE_ENST00000355347.4_Silent_p.S205S	p.S412S	NM_000383.3	NP_000374.1	0	1	1	1.813308	O43918	AIRE_HUMAN		10	1363	+			B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	1	1	hg19	c.1236G>A	CCDS13706.1	1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511408	0.27036	2.3E-4	0.0	ENSG00000160224	ENST00000329347	D	0.96427	-4.01	5.05	-10.1	0.00402	5.05	-10.1	0.00402	.	.	.	.	.	D	0.88753	0.6522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77702	-0.2489	6	0.28530	T	0.3	-22.3082	1.379	0.02226	0.2509:0.1516:0.1255:0.472	.	.	.	.	Q	178	ENSP00000331055:R178Q	ENSP00000331055:R178Q	R	+	2	0	0	AIRE	44537444	44537444	0.000000	0.05858	0.018000	0.16275	0.150000	0.21749	-4.067000	0.00302	-3.437000	0.00163	0.542000	0.68232	CGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-17.779870	1	0.170000				9	9		45	43	0		1			0	0	15	0		9.947052e-01	0	0	0	0	0	0	9	45
AIRE	326	broad.mit.edu	37	21	45713671	45713671	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000355347.4_Splice_Site|AIRE_ENST00000329347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCTCCCACAGAACCTGGCTC	0.692									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5	1.000000	0.710000	9.900000e-01	8.200000e-01	0.920000	0.913818	0.920000	1.000000																										0				14						c.e11-1		autoimmune regulator							46.0	43.0	44.0					21																	45713671		2199	4295	6494	SO:0001630	splice_region_variant	326	0	0		Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	g.chr21:45713671G>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1279-1G>T	chr21.hg19:g.45713671G>T		1					AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site		NM_000383.3	NP_000374.1	0	1	1	1.813308	O43918	AIRE_HUMAN		11	1405	+			B2RP50|O43922|O43932|O75745	Splice_Site	SNP	ENST00000291582.5	1	1	hg19		CCDS13706.1	1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115223	0.20795	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	3.41	2.52	0.30459	3.41	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.45194	D	0.998207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2727	0.26266	0.1343:0.0:0.8657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	AIRE	44538099	44538099	0.440000	0.25618	0.153000	0.22517	0.004000	0.04260	2.223000	0.42936	0.737000	0.32582	-0.350000	0.07774	.	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.692	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000		Intron		29	29		235	230	1		1			0	0	56	0		1	0	0	0	0	0	0	29	235
PFKL	5211	broad.mit.edu	37	21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000349048.4	+	17	1731	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	559	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672																																						ENST00000349048.4	1.000000	0.680000	9.900000e-01	8.000000e-01	0.910000	0.899585	0.910000	1.000000																										0				23						c.(1675-1677)gCc>gTc		phosphofructokinase, liver							67.0	63.0	65.0					21																	45744399		2202	4300	6502	SO:0001583	missense	5211	0	0					g.chr21:45744399C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1676C>T	chr21.hg19:g.45744399C>T	ENSP00000269848:p.Ala559Val	1					PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	p.A559V	NM_002626.4	NP_002617.3	0	1	1	1.813308	P17858	PFKAL_HUMAN		17	1731	+			Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	1	1	hg19	c.1676C>T	CCDS33582.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358152	0.82243	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84298	-1.83;-1.83	4.1	4.1	0.47936	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97112	0.9805	10	0.87932	D	0	-34.7073	15.126	0.72483	0.0:1.0:0.0:0.0	.	559;606	P17858;P17858-2	K6PL_HUMAN;.	V	559;352;606	ENSP00000269848:A559V;ENSP00000384038:A606V	ENSP00000269848:A559V	A	+	2	0	0	PFKL	44568827	44568827	1.000000	0.71417	0.928000	0.36995	0.351000	0.29236	7.399000	0.79935	1.852000	0.53769	0.467000	0.42956	GCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				29	29		255	251	1		1	1		0	0	62	0		1	1	0	120	0	710	0	29	255
TRPM2	7226	broad.mit.edu	37	21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397928.1	+	5	1157	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	238					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)			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						CGAGCTCATCACCATCGGAGT	0.667																																						ENST00000397928.1	1.000000	0.740000	1	8.500000e-01	0.940000	0.927802	0.940000	1.000000																										0				76						c.(712-714)Acc>Gcc		transient receptor potential cation channel, subfamily M, member 2							55.0	47.0	50.0					21																	45789167		2203	4300	6503	SO:0001583	missense	7226	0	0					g.chr21:45789167A>G	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.712A>G	chr21.hg19:g.45789167A>G	ENSP00000381023:p.Thr238Ala	1					TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A	p.T238A	NM_003307.3	NP_003298	0	1	1	1.813308	O94759	TRPM2_HUMAN		5	1157	+			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	1	1	hg19	c.712A>G	CCDS13710.1	1	.	.	.	.	.	.	.	.	.	.	A	4.867	0.161075	0.09287	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	3.51	3.51	0.40186	3.51	3.51	0.40186	.	0.146541	0.46758	U	0.000277	T	0.01320	0.0043	N	0.05608	-0.01	0.45806	D	0.998687	P;P	0.40360	0.714;0.512	B;B	0.31946	0.138;0.113	T	0.53760	-0.8393	10	0.02654	T	1	-38.6306	12.4804	0.55839	1.0:0.0:0.0:0.0	.	238;238	E9PGK7;O94759	.;TRPM2_HUMAN	A	238	ENSP00000300482:T238A;ENSP00000381023:T238A;ENSP00000300481:T238A;ENSP00000381026:T238A	ENSP00000300481:T238A	T	+	1	0	0	TRPM2	44613595	44613595	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	2.993000	0.49425	1.588000	0.49971	0.383000	0.25322	ACC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_003307			28	28		200	196	1		1	0		0	0	42	0		1	4.521513e-01	0	0	0	12	0	28	200
TRPM2	7226	broad.mit.edu	37	21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397928.1	+	21	3675	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1077					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)			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						TACCAcggccgccccgccgcg	0.617																																						ENST00000397928.1	1.000000	0.940000	1	9.700000e-01	0.990000	0.993244	0.990000	1.000000																										0				76						c.(3229-3231)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							54.0	53.0	53.0					21																	45837893		2203	4299	6502	SO:0001583	missense	7226	13	121396	40				g.chr21:45837893G>A	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.3230G>A	chr21.hg19:g.45837893G>A	ENSP00000381023:p.Arg1077His	1					TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H	p.R1077H	NM_003307.3	NP_003298	0	1	1	1.813308	O94759	TRPM2_HUMAN		21	3675	+			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	1	1	hg19	c.3230G>A	CCDS13710.1	1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595539	0.66219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.54	4.54	0.55810	4.54	4.54	0.55810	.	0.140827	0.48286	D	0.000181	T	0.62270	0.2414	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	0.999;0.999;0.999	T	0.71547	-0.4560	10	0.87932	D	0	-34.5594	17.6937	0.88276	0.0:0.0:1.0:0.0	.	1077;863;1077	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1077;1077;1057;1077	ENSP00000300482:R1077H;ENSP00000381023:R1077H;ENSP00000300481:R1057H;ENSP00000381026:R1077H	ENSP00000300481:R1057H	R	+	2	0	0	TRPM2	44662321	44662321	1.000000	0.71417	0.315000	0.25238	0.048000	0.14542	7.492000	0.81482	2.253000	0.74438	0.455000	0.32223	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.613449	1	0.170000	NM_003307			97	97		366	359	1		1	0		0	0	78	0		1	9.651418e-01	0	0	0	23	0	97	366
KRTAP10-4	386672	broad.mit.edu	37	21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	31						keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682																																						ENST00000400374.3	1.000000	0.930000	1	9.600000e-01	0.990000	0.988849	0.990000	1.000000																										0				18						c.(91-93)Gac>Aac		keratin associated protein 10-4							61.0	66.0	64.0					21																	45993726		2080	4194	6274	SO:0001583	missense	386672	1	120984	30				g.chr21:45993726G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.91G>A	chr21.hg19:g.45993726G>A	ENSP00000383225:p.Asp31Asn	1					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	p.D31N	NM_198687.1	NP_941960.1	0	1	1	1.813308	P60372	KR104_HUMAN		1	121	+			Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	1	1	hg19	c.91G>A	CCDS42957.1	1	.	.	.	.	.	.	.	.	.	.	N	10.33	1.319150	0.23994	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	0.487	0.16842	4.69	0.487	0.16842	.	.	.	.	.	T	0.11239	0.0274	L	0.54323	1.7	0.22468	N	0.999077	P	0.42827	0.791	B	0.36666	0.23	T	0.20140	-1.0284	9	0.11182	T	0.66	.	3.5654	0.07897	0.2943:0.0:0.5321:0.1736	.	31	P60372	KR104_HUMAN	N	31;20	ENSP00000383225:D31N	ENSP00000333987:D20N	D	+	1	0	0	KRTAP10-4	44818154	44818154	0.723000	0.28027	0.976000	0.42696	0.133000	0.20885	0.164000	0.16542	0.164000	0.19529	-0.336000	0.08194	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	1	0	1		2	2	2	0		0	0	79		79	109	1	2.060000	-3.732308	1	0.170000	NM_198687			73	71		283	244	0		1			0	0	79	0		1	0	0	0	0	0	0	73	283
KRTAP10-8	386681	broad.mit.edu	37	21	46032698	46032698	+	Silent	SNP	C	C	A	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711																																						ENST00000334662.2	1.000000	0.790000	1	8.800000e-01	0.950000	0.942136	0.950000	1.000000																										0				17						c.(679-681)tcC>tcA		keratin associated protein 10-8							72.0	80.0	77.0					21																	46032698		2203	4300	6503	SO:0001819	synonymous_variant	386681	0	0					g.chr21:46032698C>A	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.681C>A	chr21.hg19:g.46032698C>A		1					TSPEAR_ENST00000323084.4_Intron	p.S227S	NM_198695.2	NP_941968.2	0	1	1	1.813308	P60410	KR108_HUMAN		1	703	+			A0JNW4	Silent	SNP	ENST00000334662.2	1	1	hg19	c.681C>A	CCDS13713.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-3.318794	1	0.170000	NM_198695			54	51		452	433	1		1			0	0	102	0		1	0	0	0	0	0	0	54	452
KRTAP12-2	353323	broad.mit.edu	37	21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	99	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642																																						ENST00000360770.3	1.000000	0.690000	9.800000e-01	8.000000e-01	0.900000	0.896773	0.900000	1.000000																										0				5						c.(295-297)Tcc>Acc		keratin associated protein 12-2							59.0	71.0	67.0					21																	46086509		2175	4258	6433	SO:0001583	missense	353323	0	0					g.chr21:46086509A>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.295T>A	chr21.hg19:g.46086509A>T	ENSP00000354001:p.Ser99Thr	1					TSPEAR_ENST00000323084.4_Intron	p.S99T	NM_181684.2	NP_859012.1	0	1	1	1.813308	P59991	KR122_HUMAN		1	335	-			A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	1	1	hg19	c.295T>A	CCDS42965.1	1	.	.	.	.	.	.	.	.	.	.	a	5.296	0.239909	0.10023	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03468	3.92	3.47	-0.556	0.11803	3.47	-0.556	0.11803	.	.	.	.	.	T	0.09291	0.0229	M	0.84082	2.675	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.15464	-1.0436	9	0.51188	T	0.08	.	3.0355	0.06121	0.4538:0.0:0.3497:0.1965	.	99	P59991	KR122_HUMAN	T	99;49	ENSP00000354001:S99T	ENSP00000354001:S99T	S	-	1	0	0	KRTAP12-2	44910937	44910937	0.976000	0.34144	0.010000	0.14722	0.388000	0.30384	0.038000	0.13862	0.009000	0.14813	0.379000	0.24179	TCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-1.443732	0	0.170000	NM_181684			33	33		305	294	0		1			0	0	86	0		1	0	0	0	0	0	0	33	305
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647																																						ENST00000400365.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.983342	0.980000	1.000000																										1	Substitution - coding silent(1)	p.A103A(1)	lung(1)	9						c.(307-309)gcC>gcA		keratin associated protein 10-12							76.0	81.0	79.0					21																	46117425		2203	4297	6500	SO:0001819	synonymous_variant	386685	0	0					g.chr21:46117425C>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.309C>A	chr21.hg19:g.46117425C>A		1					TSPEAR_ENST00000323084.4_Intron	p.A103A	NM_198699.1	NP_941972.1	0	1	1	1.813308	P60413	KR10C_HUMAN		1	339	+			B2RPA3	Silent	SNP	ENST00000400365.3	1	1	hg19	c.309C>A	CCDS42967.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.647	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	1	0	1		2	2	2	0		0	0	193		193	207	1	2.060000	-20.000000	1	0.170000	NM_198699			117	108		839	784	0		1			0	0	193	0		1	0	0	0	0	0	0	117	839
KRTAP10-12	386685	broad.mit.edu	37	21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A	rs576036099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	208	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711																																						ENST00000400365.3	1.000000	0.830000	1	9.000000e-01	0.960000	0.955080	0.960000	1.000000																										0				9						c.(622-624)cGc>cAc		keratin associated protein 10-12							53.0	68.0	63.0					21																	46117739		2200	4294	6494	SO:0001583	missense	386685	1	121290	35				g.chr21:46117739G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.623G>A	chr21.hg19:g.46117739G>A	ENSP00000383216:p.Arg208His	1					TSPEAR_ENST00000323084.4_Intron	p.R208H	NM_198699.1	NP_941972.1	0	1	1	1.813308	P60413	KR10C_HUMAN		1	653	+			B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	1	1	hg19	c.623G>A	CCDS42967.1	1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904269	0.17760	.	.	ENSG00000189169	ENST00000400365	T	0.00630	6.1	2.6	2.6	0.31112	2.6	2.6	0.31112	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.22500	N	0.999047	B	0.20550	0.046	B	0.04013	0.001	T	0.48068	-0.9067	9	0.59425	D	0.04	.	5.7084	0.17921	0.1658:0.0:0.8342:0.0	.	208	P60413	KR10C_HUMAN	H	208	ENSP00000383216:R208H	ENSP00000383216:R208H	R	+	2	0	0	KRTAP10-12	44942167	44942167	0.133000	0.22466	0.939000	0.37840	0.006000	0.05464	0.289000	0.18957	1.155000	0.42497	0.298000	0.19748	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.711	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	1	0	1		2	2	2	0		0	0	173		173	165	1	2.060000	-2.774725	1	0.170000	NM_198699			90	87		791	746	1		1			0	0	173	0		1	0	0	0	0	0	0	90	791
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																						ENST00000397850.2	1.000000	0.690000	9.900000e-01	8.000000e-01	0.910000	0.900452	0.910000	1.000000																										0				35						c.(895-897)ttC>ttT		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	1,4405	2.1+/-5.4	0,1,2202	120.0	94.0	103.0		897,897	-7.0	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689	2	121412	36				g.chr21:46320235G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	chr21.hg19:g.46320235G>A		1					ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F	p.F299F			0	1	1	1.813308	P05107	ITB2_HUMAN		8	1349	-			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	1	0	hg19	c.897C>T	CCDS13716.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-11.748840	1	0.170000	NM_000211	Silent		31	31		277	270	0		1	0		0	0	56	0		1	1	0	0	0	545	0	31	277
ADARB1	104	broad.mit.edu	37	21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000360697.3	+	3	1069	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	352					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGAAAAGTGCTGGCTGGAGT	0.493																																						ENST00000360697.3	0.970000	0.300000	8.400000e-01	4.500000e-01	0.640000	0.650263	0.640000	0.630000																										0				17						c.(1054-1056)Ctg>Atg		adenosine deaminase, RNA-specific, B1							127.0	82.0	97.0					21																	46600335		2203	4300	6503	SO:0001583	missense	104	0	0					g.chr21:46600335C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1054C>A	chr21.hg19:g.46600335C>A	ENSP00000353920:p.Leu352Met	1					ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M|ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR	p.L352M			0	1	1	1.813308	P78563	RED1_HUMAN		3	1069	+			A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	1	1	hg19	c.1054C>A	CCDS33589.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028386	0.75390	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.49432	0.79;0.78;0.8;0.79	5.47	5.47	0.80525	5.47	5.47	0.80525	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.995;0.999;0.984	T	0.75780	-0.3197	10	0.87932	D	0	-31.6681	17.2115	0.86931	0.0:1.0:0.0:0.0	.	352;352;380;352	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	352	ENSP00000441897:L352M;ENSP00000374513:L352M;ENSP00000015877:L352M;ENSP00000353920:L352M	ENSP00000015877:L352M	L	+	1	2	2	ADARB1	45424763	45424763	1.000000	0.71417	0.616000	0.29078	0.696000	0.40369	4.579000	0.60936	2.748000	0.94277	0.655000	0.94253	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-4.718990	1	0.170000	NM_015833			7	7		104	102	0		1	0		0	0	38	0		9.804911e-01	5.704959e-01	0	1	0	27	0	7	104
POFUT2	23275	broad.mit.edu	37	21	46703411	46703411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000349485.5	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000331343.7_Silent_p.Y138Y|POFUT2_ENST00000471540.1_5'Flank	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	138					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532																																						ENST00000349485.5	1.000000	0.970000	1	9.900000e-01	0.990000	0.998450	0.990000	1.000000																										0				20						c.(412-414)taC>taT		protein O-fucosyltransferase 2							236.0	210.0	219.0					21																	46703411		2203	4300	6503	SO:0001819	synonymous_variant	23275	1	121412	44				g.chr21:46703411G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.414C>T	chr21.hg19:g.46703411G>A		1					POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Silent_p.Y138Y	p.Y138Y	NM_133635.4	NP_598368.2	0	1	1	1.813308	Q9Y2G5	OFUT2_HUMAN		3	440	-			Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	1	1	hg19	c.414C>T	CCDS13719.1	1	.	.	.	.	.	.	.	.	.	.	G	1.333	-0.596142	0.03771	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.52	-1.3	0.09259	4.52	-1.3	0.09259	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-32.6851	8.3022	0.32021	0.6096:0.0:0.3904:0.0	.	.	.	.	C	16	.	.	R	-	1	0	0	POFUT2	45527839	45527839	0.221000	0.23642	0.967000	0.41034	0.073000	0.16967	-0.450000	0.06803	-0.100000	0.12241	0.650000	0.86243	CGT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	0	1		16	3	2	1		1	1	203		203	203	1	2.060000	-20.000000	1	0.170000	NM_015227			197	194		755	733	0		1	1		1	0	203	0		1	9.999945e-01	0	14	0	63	0	197	755
COL18A1	80781	broad.mit.edu	37	21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A	rs201095161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	641	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGAAGGTGCGCAGGGACCCC	0.632																																						ENST00000359759.4	1.000000	0.750000	1	8.600000e-01	0.950000	0.936377	0.950000	1.000000																										0				25						c.(1921-1923)cGc>cAc		collagen, type XVIII, alpha 1		G	HIS/ARG,HIS/ARG	0,4104		0,0,2052	32.0	36.0	35.0		1217,677	2.8	0.1	21		35	1,8363		0,1,4181	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	29,29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	probably-damaging,probably-damaging	406/1520,226/1340	46893834	1,12467	2052	4182	6234	SO:0001583	missense	80781	7	120596	30				g.chr21:46893834G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1922G>A	chr21.hg19:g.46893834G>A	ENSP00000352798:p.Arg641His	1					COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H	p.R641H			0	1	1	1.813308	P39060	COIA1_HUMAN		3	1943	+			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	1	1	hg19	c.1922G>A		1	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573551	0.13623	0.0	1.2E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02158	4.42;4.42;4.42	2.81	2.81	0.32909	2.81	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.405345	0.23598	N	0.046475	T	0.05823	0.0152	L	0.28556	0.865	0.33300	D	0.564707	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.986;0.976;0.953	T	0.26916	-1.0089	10	0.56958	D	0.05	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	641;406;226	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	H	226;226;406;641;641	ENSP00000383191:R226H;ENSP00000347665:R406H;ENSP00000352798:R641H	ENSP00000347665:R406H	R	+	2	0	0	COL18A1	45718262	45718262	0.994000	0.37717	0.061000	0.19648	0.073000	0.16967	2.871000	0.48459	1.889000	0.54706	0.186000	0.17326	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-20.000000	1	0.170000				16	16		51	51	1		1	0		0	0	11	0		9.999703e-01	1	0	1	0	487	0	16	51
COL18A1	80781	broad.mit.edu	37	21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1051	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597																																						ENST00000359759.4	1.000000	0.700000	9.800000e-01	8.000000e-01	0.900000	0.894737	0.900000	1.000000																										0				25						c.(3151-3153)Ggc>Agc		collagen, type XVIII, alpha 1							90.0	101.0	97.0					21																	46908341		1997	4142	6139	SO:0001583	missense	80781	0	0					g.chr21:46908341G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3151G>A	chr21.hg19:g.46908341G>A	ENSP00000352798:p.Gly1051Ser	1					COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S	p.G1051S			0	1	1	1.813308	P39060	COIA1_HUMAN		17	3172	+			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	1	1	hg19	c.3151G>A		1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190930	0.58017	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.99329	-5.75;-5.75;-5.75	3.39	2.48	0.30137	3.39	2.48	0.30137	.	0.132732	0.49916	D	0.000132	D	0.99513	0.9826	H	0.98256	4.185	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.67725	0.953;0.921;0.796	D	0.97195	0.9860	10	0.87932	D	0	.	7.9781	0.30166	0.0:0.0:0.7558:0.2442	.	1051;816;636	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	636;816;1051;1051	ENSP00000383191:G636S;ENSP00000347665:G816S;ENSP00000352798:G1051S	ENSP00000347665:G816S	G	+	1	0	0	COL18A1	45732769	45732769	0.903000	0.30736	0.009000	0.14445	0.097000	0.18754	3.660000	0.54496	0.763000	0.33175	0.650000	0.86243	GGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.017764	1	0.170000				46	46		458	451	0		1	1		0	0	93	0		1	1	0	14	0	425	0	46	458
COL18A1	80781	broad.mit.edu	37	21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A	rs375408962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1122	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687																																						ENST00000359759.4	1.000000	0.820000	1	9.000000e-01	0.960000	0.957199	0.960000	1.000000																										0				25						c.(3364-3366)Gga>Aga		collagen, type XVIII, alpha 1		G	ARG/GLY,ARG/GLY	0,3834		0,0,1917	18.0	24.0	22.0		2659,2119	3.8	1.0	21		22	1,8187		0,1,4093	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	125,125	0,1,6010	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	887/1520,707/1340	46911190	1,12021	1917	4094	6011	SO:0001583	missense	80781	1	119918	27				g.chr21:46911190G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3364G>A	chr21.hg19:g.46911190G>A	ENSP00000352798:p.Gly1122Arg	1					COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R	p.G1122R			0	1	1	1.813308	P39060	COIA1_HUMAN		21	3385	+			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	1	1	hg19	c.3364G>A		1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473025	0.63737	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	3.85	3.85	0.44370	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99411	0.9792	H	0.97635	4.045	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	0.98124	1.0427	10	0.72032	D	0.01	.	13.6811	0.62487	0.0:0.0:1.0:0.0	.	1122;887;707	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	707;707;887;1122;1122;54	ENSP00000383191:G707R;ENSP00000347665:G887R;ENSP00000352798:G1122R;ENSP00000339118:G54R	ENSP00000339118:G54R	G	+	1	0	0	COL18A1	45735618	45735618	0.953000	0.32496	0.963000	0.40424	0.253000	0.25986	1.790000	0.38734	2.159000	0.67721	0.561000	0.74099	GGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-3.114122	1	0.170000				30	30		144	140	0		1	1		0	0	27	0		1	1	0	7	0	544	0	30	144
SLC19A1	6573	broad.mit.edu	37	21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000311124.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	347					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GACCAGCCCCGCCTGCGTGGC	0.687																																						ENST00000311124.4	1.000000	0.790000	1	8.900000e-01	0.960000	0.950213	0.960000	1.000000																										0				10						c.(1039-1041)gCg>gTg		solute carrier family 19 (folate transporter), member 1	Methotrexate(DB00563)|Pralatrexate(DB06813)						16.0	18.0	17.0					21																	46950795		2180	4277	6457	SO:0001583	missense	6573	1	118550	26				g.chr21:46950795G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1040C>T	chr21.hg19:g.46950795G>A	ENSP00000308895:p.Ala347Val	1					SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V	p.A347V	NM_194255.2	NP_919231.1	0	1	1	1.813308	P41440	S19A1_HUMAN		4	1192	-			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	1	1	hg19	c.1040C>T	CCDS13725.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.85|18.85	3.711962|3.711962	0.68730|0.68730	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.89552|.	-2.53;-2.53;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	3.76|3.76	3.76|3.76	0.43208|0.43208	Major facilitator superfamily domain, general substrate transporter (1);|.	0.113799|.	0.64402|.	D|.	0.000016|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.66351|.	0.922;0.922;0.943;0.922|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-24.7675|-24.7675	15.0129|15.0129	0.71562|0.71562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307;369;347;347|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	V|W	94;347;347;307|82	ENSP00000308895:A347V;ENSP00000369347:A347V;ENSP00000441772:A307V|.	ENSP00000308895:A347V|.	A|R	-|-	2|1	0|2	0|2	SLC19A1|SLC19A1	45775223|45775223	45775223|45775223	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.116000|0.116000	0.19942|0.19942	8.683000|8.683000	0.91236|0.91236	2.034000|2.034000	0.60081|0.60081	0.289000|0.289000	0.19496|0.19496	GCG|CGG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000				20	20		61	59	0		1	1		0	0	20	0		9.999979e-01	9.366242e-01	0	5	0	12	0	20	61
PCBP3	54039	broad.mit.edu	37	21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	131	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597																																						ENST00000400314.1	1.000000	0.950000	1	9.800000e-01	0.990000	0.994876	0.990000	1.000000																										0				17						c.(391-393)aCg>aTg		poly(rC) binding protein 3							56.0	65.0	62.0					21																	47329321		2098	4249	6347	SO:0001583	missense	54039	1	121050	30				g.chr21:47329321C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.392C>T	chr21.hg19:g.47329321C>T	ENSP00000383168:p.Thr131Met	1					PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M	p.T131M			0	1	1	1.813308	P57721	PCBP3_HUMAN		8	730	+	all_hematologic(128;0.24)		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	1	1	hg19	c.392C>T	CCDS42974.2	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105317	0.77096	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.0	5.0	0.66597	5.0	5.0	0.66597	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.89163	3.01	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	0.997;0.956;1.0;0.999;0.978;1.0;0.986	T	0.75331	-0.3355	10	0.87932	D	0	-20.0627	18.6823	0.91551	0.0:1.0:0.0:0.0	.	99;131;99;131;131;131;131	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	M	131;131;131;131;131;131;107;99	ENSP00000383168:T131M;ENSP00000383165:T131M;ENSP00000383164:T131M;ENSP00000383163:T131M;ENSP00000401198:T131M;ENSP00000383160:T107M;ENSP00000383159:T99M	ENSP00000330225:T131M	T	+	2	0	0	PCBP3	46153749	46153749	1.000000	0.71417	0.360000	0.25837	0.615000	0.37417	7.331000	0.79192	2.502000	0.84385	0.655000	0.94253	ACG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000				103	102		329	324	1		1	0		0	0	96	0		1	7.273094e-01	0	0	0	10	0	103	329
PCBP3	54039	broad.mit.edu	37	21	47330914	47330914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400310.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	190					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642																																						ENST00000400314.1	1.000000	0.920000	1	9.600000e-01	0.990000	0.986186	0.990000	1.000000																										0				17						c.(568-570)tgC>tgT		poly(rC) binding protein 3							89.0	96.0	94.0					21																	47330914		2184	4283	6467	SO:0001819	synonymous_variant	54039	1	121234	29				g.chr21:47330914C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.570C>T	chr21.hg19:g.47330914C>T		1					PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C	p.C190C			0	1	1	1.813308	P57721	PCBP3_HUMAN		9	908	+	all_hematologic(128;0.24)		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	1	1	hg19	c.570C>T	CCDS42974.2	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				65	65		262	259	1		1	0		0	0	49	0		1	3.461172e-01	0	0	0	6	0	65	262
COL6A1	1291	broad.mit.edu	37	21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	327	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGCGTGGCATCGACGGGGTG	0.657																																						ENST00000361866.3	1.000000	0.910000	1	9.500000e-01	0.980000	0.983686	0.980000	1.000000																										0				33						c.(979-981)aTc>aCc		collagen, type VI, alpha 1							41.0	36.0	38.0					21																	47410314		2201	4299	6500	SO:0001583	missense	1291	0	0					g.chr21:47410314T>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.980T>C	chr21.hg19:g.47410314T>C	ENSP00000355180:p.Ile327Thr	1						p.I327T	NM_001848.2	NP_001839.2	0	1	1	1.813308	P12109	CO6A1_HUMAN		13	1094	+	all_hematologic(128;0.24)		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	1	1	hg19	c.980T>C	CCDS13727.1	1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003781	0.35320	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93133	-3.17	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.462231	0.20711	N	0.087098	D	0.92064	0.7485	L	0.33668	1.02	0.23636	N	0.997236	D	0.63880	0.993	P	0.57620	0.824	D	0.83907	0.0293	10	0.11182	T	0.66	-14.5701	13.5188	0.61555	0.0:0.0:0.0:1.0	.	327	P12109	CO6A1_HUMAN	T	327	ENSP00000355180:I327T	ENSP00000355180:I327T	I	+	2	0	0	COL6A1	46234742	46234742	0.853000	0.29707	0.835000	0.33067	0.796000	0.44982	2.119000	0.41958	1.791000	0.52520	0.533000	0.62120	ATC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_001848			55	53		204	197	1		1	1		0	0	53	0		1	1	0	26	0	297	0	55	204
COL6A1	1291	broad.mit.edu	37	21	47423624	47423624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	928	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTTCTACCGCGAGGCCTCGT	0.637																																						ENST00000361866.3	1.000000	0.880000	1	9.400000e-01	0.980000	0.977611	0.980000	1.000000																										0				33						c.(2782-2784)cgC>cgT		collagen, type VI, alpha 1							31.0	26.0	28.0					21																	47423624		2202	4298	6500	SO:0001819	synonymous_variant	1291	3	121312	31				g.chr21:47423624C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2784C>T	chr21.hg19:g.47423624C>T		1					COL6A1_ENST00000498614.1_3'UTR	p.R928R	NM_001848.2	NP_001839.2	0	1	1	1.813308	P12109	CO6A1_HUMAN		35	2898	+	all_hematologic(128;0.24)		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	1	1	hg19	c.2784C>T	CCDS13727.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_001848			43	42		156	151	1		1	1		0	0	39	0		1	1	0	36	0	441	0	43	156
COL6A2	1292	broad.mit.edu	37	21	47532275	47532275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000409416.1_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	166	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCACGTCACCGGCAGCCCCT	0.701																																						ENST00000300527.4	1.000000	0.850000	1	9.300000e-01	0.970000	0.969229	0.970000	1.000000																										0				43						c.(496-498)acC>acT		collagen, type VI, alpha 2							12.0	14.0	13.0					21																	47532275		2141	4192	6333	SO:0001819	synonymous_variant	1292	3	119398	33				g.chr21:47532275C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.498C>T	chr21.hg19:g.47532275C>T		1					COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T	p.T166T	NM_001849.3	NP_001840.3	0	1	1	1.813308	P12110	CO6A2_HUMAN		3	602	+	Breast(49;0.245)		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	1	1	hg19	c.498C>T	CCDS13728.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				34	33		128	124	1		1	0		0	0	19	0		1	1	0	0	0	297	0	34	128
COL6A2	1292	broad.mit.edu	37	21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	379	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCGCCCAGGACGCAGAGG	0.682																																						ENST00000300527.4	1.000000	0.830000	1	9.100000e-01	0.970000	0.961010	0.970000	1.000000																										0				43						c.(1135-1137)Gga>Tga		collagen, type VI, alpha 2							26.0	30.0	28.0					21																	47538546		2199	4295	6494	SO:0001587	stop_gained	1292	0	0					g.chr21:47538546G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1135G>T	chr21.hg19:g.47538546G>T	ENSP00000300527:p.Gly379*	1					COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*	p.G379*	NM_001849.3	NP_001840.3	0	1	1	1.813308	P12110	CO6A2_HUMAN		13	1239	+	Breast(49;0.245)		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	0	1	hg19	c.1135G>T	CCDS13728.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.405156	0.98262	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3025	16.6052	0.84826	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000300527:G379X	G	+	1	0	0	COL6A2	46362974	46362974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.715000	0.84713	2.151000	0.67156	0.591000	0.81541	GGA	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				29	29		118	116	1		1	0		0	0	24	0		1	1	0	0	0	1075	0	29	118
COL6A2	1292	broad.mit.edu	37	21	47546054	47546054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000409416.1_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	775	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602																																						ENST00000300527.4	1.000000	0.880000	1	9.300000e-01	0.970000	0.972537	0.970000	1.000000																										0				43						c.(2323-2325)atC>atT		collagen, type VI, alpha 2							200.0	197.0	198.0					21																	47546054		2203	4299	6502	SO:0001819	synonymous_variant	1292	1	121402	41				g.chr21:47546054C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2325C>T	chr21.hg19:g.47546054C>T		1					COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I	p.I775I	NM_001849.3	NP_001840.3	0	1	1	1.813308	P12110	CO6A2_HUMAN		26	2429	+	Breast(49;0.245)		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	1	1	hg19	c.2325C>T	CCDS13728.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1		2	2	2	0		0	0	351		351	347	1	2.060000	-3.318794	1	0.170000				161	159		1420	1402	0		1	1		0	0	351	0		1	1	0	3	0	1811	0	161	1420
COL6A2	1292	broad.mit.edu	37	21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	924	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)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGGTGCACGCCATCAATGC	0.667																																						ENST00000300527.4	1.000000	0.760000	1	8.700000e-01	0.950000	0.941778	0.950000	1.000000																										0				43						c.(2770-2772)Gcc>Acc		collagen, type VI, alpha 2							24.0	26.0	25.0					21																	47552176		2196	4299	6495	SO:0001583	missense	1292	3	120738	28				g.chr21:47552176G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2770G>A	chr21.hg19:g.47552176G>A	ENSP00000300527:p.Ala924Thr	1						p.A924T	NM_001849.3	NP_001840.3	0	1	1	1.813308	P12110	CO6A2_HUMAN		28	2874	+	Breast(49;0.245)		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	1	1	hg19	c.2770G>A	CCDS13728.1	1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000142173	ENST00000300527	D	0.82526	-1.62	4.18	4.18	0.49190	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.118916	0.56097	U	0.000030	D	0.83229	0.5209	L	0.57536	1.79	0.80722	D	1	D	0.53619	0.961	P	0.50537	0.643	T	0.80688	-0.1271	10	0.10636	T	0.68	-24.3787	16.5088	0.84279	0.0:0.0:1.0:0.0	.	924	P12110	CO6A2_HUMAN	T	924	ENSP00000300527:A924T	ENSP00000300527:A924T	A	+	1	0	0	COL6A2	46376604	46376604	1.000000	0.71417	0.927000	0.36925	0.019000	0.09904	9.511000	0.98006	1.891000	0.54761	0.313000	0.20887	GCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000				19	18		72	67	1		1	0		0	0	25	0		9.999920e-01	1	0	0	0	439	0	19	72
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	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)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662																																						ENST00000300527.4	1.000000	0.860000	1	9.300000e-01	0.970000	0.970040	0.970000	1.000000																										0				43						c.(2938-2940)Gtg>Atg		collagen, type VI, alpha 2		G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70.0	58.0	62.0		2938	4.4	1.0	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense	1292	9	121176	40				g.chr21:47552344G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	chr21.hg19:g.47552344G>A	ENSP00000300527:p.Val980Met	1						p.V980M	NM_001849.3	NP_001840.3	0	1	1	1.813308	P12110	CO6A2_HUMAN		28	3042	+	Breast(49;0.245)		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	1	1	hg19	c.2938G>A	CCDS13728.1	1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	0	COL6A2	46376772	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				37	37		154	152	1		1	0		0	0	46	0		1	1	0	0	0	685	0	37	154
FTCD	10841	broad.mit.edu	37	21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Silent_p.G527G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	534	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642																																						ENST00000291670.5	1.000000	0.880000	1	9.400000e-01	0.980000	0.975910	0.980000	1.000000																										0				19						c.(1600-1602)gAc>gTc		formimidoyltransferase cyclodeaminase	Tetrahydrofolic acid(DB00116)						65.0	62.0	63.0					21																	47556926		2202	4299	6501	SO:0001583	missense	10841	0	0					g.chr21:47556926T>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1601A>T	chr21.hg19:g.47556926T>A	ENSP00000291670:p.Asp534Val	1					FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	p.D534V	NM_006657.2	NP_006648.1	0	1	1	1.813308	O95954	FTCD_HUMAN		14	1644	-	Breast(49;0.214)		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	1	1	hg19	c.1601A>T	CCDS13731.1	1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179945	0.06380	.	.	ENSG00000160282	ENST00000291670;ENST00000446405;ENST00000397746	T;T	0.45668	0.89;0.89	3.5	1.03	0.20045	3.5	1.03	0.20045	Cyclodeaminase/cyclohydrolase (1);	.	.	.	.	T	0.35098	0.0920	M	0.65498	2.005	0.54753	D	0.999984	B	0.25955	0.138	B	0.24006	0.05	T	0.17837	-1.0356	9	0.48119	T	0.1	.	4.1292	0.10141	0.0:0.2331:0.1798:0.587	.	534	O95954	FTCD_HUMAN	V	534;68;534	ENSP00000291670:D534V;ENSP00000380854:D534V	ENSP00000291670:D534V	D	-	2	0	0	FTCD	46381354	46381354	0.011000	0.17503	0.469000	0.27204	0.064000	0.16182	0.238000	0.18004	0.365000	0.24400	0.374000	0.22700	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_006657			40	39		141	140	1		1	0		0	0	45	0		1	5.114041e-02	0	1	0	1	0	40	141
FTCD	10841	broad.mit.edu	37	21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000291670.5	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Missense_Mutation_p.D161N	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	161	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652																																						ENST00000291670.5	1.000000	0.900000	1	9.500000e-01	0.980000	0.980856	0.980000	1.000000																										0				19						c.(481-483)Gac>Aac		formimidoyltransferase cyclodeaminase	Tetrahydrofolic acid(DB00116)						44.0	55.0	51.0					21																	47571627		2202	4300	6502	SO:0001583	missense	10841	10	121162	38				g.chr21:47571627C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.481G>A	chr21.hg19:g.47571627C>T	ENSP00000291670:p.Asp161Asn	1					FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD_ENST00000397748.1_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N	p.D161N	NM_006657.2	NP_006648.1	0	1	1	1.813308	O95954	FTCD_HUMAN		5	524	-	Breast(49;0.214)		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	1	1	hg19	c.481G>A	CCDS13731.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.57	4.57	0.56435	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.120225	0.53938	D	0.000044	D	0.94640	0.8272	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.97;0.979;0.979	D	0.96523	0.9387	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	161;161;161	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	N	161	ENSP00000291670:D161N;ENSP00000380856:D161N;ENSP00000352707:D161N;ENSP00000347545:D161N;ENSP00000380854:D161N;ENSP00000380851:D161N	ENSP00000291670:D161N	D	-	1	0	0	FTCD	46396055	46396055	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	7.593000	0.82686	2.073000	0.62155	0.591000	0.81541	GAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.426175	1	0.170000	NM_006657			56	56		253	247	0		1			0	0	48	0		1	0	0	0	0	0	0	56	253
LSS	4047	broad.mit.edu	37	21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|AP001469.5_ENST00000418029.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	197					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3	1.000000	0.590000	9.700000e-01	7.300000e-01	0.860000	0.853344	0.860000	1.000000																										0				21						c.(589-591)Ctg>Atg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							160.0	116.0	131.0					21																	47639448		2203	4300	6503	SO:0001583	missense	4047	0	0					g.chr21:47639448G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.589C>A	chr21.hg19:g.47639448G>T	ENSP00000380837:p.Leu197Met	1					LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|AP001469.5_ENST00000418029.1_RNA	p.L197M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	0	1	1	1.813308	P48449	ERG7_HUMAN		6	667	-	Breast(49;0.214)		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	1	1	hg19	c.589C>A	CCDS13733.1	1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120599	0.56613	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.62	0.586	0.17434	4.62	0.586	0.17434	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.64402	D	0.000002	T	0.77565	0.4149	M	0.87547	2.89	0.49483	D	0.999797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76418	-0.2966	10	0.54805	T	0.06	.	9.4085	0.38477	0.3965:0.0:0.6035:0.0	.	186;197	E9PEI9;P48449	.;ERG7_HUMAN	M	197;117;197;186;198	ENSP00000348762:L197M;ENSP00000409191:L117M;ENSP00000380837:L197M;ENSP00000429133:L186M;ENSP00000391368:L198M	ENSP00000348762:L197M	L	-	1	2	2	LSS	46463876	46463876	1.000000	0.71417	0.984000	0.44739	0.921000	0.55340	1.199000	0.32235	0.173000	0.19788	-0.140000	0.14226	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-8.609340	1	0.170000				19	18		181	179	1		1	1		0	0	45	0		9.999919e-01	9.662619e-01	0	6	0	50	0	19	181
MCM3AP	8888	broad.mit.edu	37	21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1632					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)			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)					GACAGGCCAGGACAGGTCACA	0.597																																						ENST00000397708.1	1.000000	0.590000	9.700000e-01	7.400000e-01	0.870000	0.860748	0.870000	1.000000																										0				72						c.(4894-4896)tCc>tTc		minichromosome maintenance complex component 3 associated protein							93.0	79.0	84.0					21																	47664864		2203	4300	6503	SO:0001583	missense	8888	0	0					g.chr21:47664864G>A	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.4895C>T	chr21.hg19:g.47664864G>A	ENSP00000380820:p.Ser1632Phe	1					MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000588753.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA	p.S1632F			0	1	1	1.813308	O60318	GANP_HUMAN		24	5149	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	1	1	hg19	c.4895C>T	CCDS13734.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830034	0.50845	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.052103	0.85682	D	0.000000	T	0.40839	0.1133	M	0.73598	2.24	0.47819	D	0.999521	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	T	0.24584	-1.0156	10	0.72032	D	0.01	-24.0304	19.28	0.94050	0.0:0.0:1.0:0.0	.	1632;127	O60318;B3KT88	MCM3A_HUMAN;.	F	1632;1632;127	ENSP00000380820:S1632F;ENSP00000291688:S1632F	ENSP00000291688:S1632F	S	-	2	0	0	MCM3AP	46489292	46489292	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	5.694000	0.68272	2.545000	0.85829	0.655000	0.94253	TCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_003906			18	18		163	161	1		1	1		0	0	56	0		9.999851e-01	9.983993e-01	0	19	0	79	0	18	163
MCM3AP	8888	broad.mit.edu	37	21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	MCM3AP_ENST00000467026.1_5'UTR|AP001469.9_ENST00000447037.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1403					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)			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)					AATCCCACCAGCATCGCTGGA	0.373																																						ENST00000397708.1	1.000000	0.780000	1	8.800000e-01	0.950000	0.946126	0.950000	1.000000																										0				72						c.(4207-4209)gCt>gAt		minichromosome maintenance complex component 3 associated protein							91.0	81.0	85.0					21																	47671525		2203	4300	6503	SO:0001583	missense	8888	0	0					g.chr21:47671525G>T	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.4208C>A	chr21.hg19:g.47671525G>T	ENSP00000380820:p.Ala1403Asp	1					AP001469.9_ENST00000430259.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000447037.1_RNA	p.A1403D			0	1	1	1.813308	O60318	GANP_HUMAN		21	4462	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	1	1	hg19	c.4208C>A	CCDS13734.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863979	0.32884	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.46819	0.86;0.86	5.44	1.23	0.21249	5.44	1.23	0.21249	.	0.684405	0.15053	N	0.283175	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.12766	T	0.61	-2.1432	4.6531	0.12605	0.18:0.0:0.3759:0.444	.	1403	O60318	MCM3A_HUMAN	D	1403	ENSP00000380820:A1403D;ENSP00000291688:A1403D	ENSP00000291688:A1403D	A	-	2	0	0	MCM3AP	46495953	46495953	0.000000	0.05858	0.696000	0.30242	0.841000	0.47740	0.303000	0.19210	0.240000	0.21263	0.655000	0.94253	GCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_003906			25	25		126	126	1		1	1		0	0	45	0		9.999999e-01	9.994789e-01	0	11	0	53	0	25	126
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					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.E1078K(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)					GTCCCTACCTCGTCAGAGTAC	0.607																																						ENST00000397708.1	1.000000	0.890000	1	9.500000e-01	0.980000	0.979859	0.980000	1.000000																										1	Substitution - Missense(1)	p.E1078K(1)	lung(1)	72						c.(3232-3234)Gag>Aag		minichromosome maintenance complex component 3 associated protein							48.0	43.0	44.0					21																	47685237		2203	4300	6503	SO:0001583	missense	8888	1	121410	25				g.chr21:47685237C>T	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.3232G>A	chr21.hg19:g.47685237C>T	ENSP00000380820:p.Glu1078Lys	1					MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K	p.E1078K			0	1	1	1.813308	O60318	GANP_HUMAN		13	3486	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	1	1	hg19	c.3232G>A	CCDS13734.1	1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	0	MCM3AP	46509665	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-3.806742	1	0.170000	NM_003906			46	46		163	161	1		1	1		0	0	41	0		1	9.999999e-01	0	8	0	86	0	46	163
MCM3AP	8888	broad.mit.edu	37	21	47686901	47686901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	928	SAC3 homology.				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)			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)					CTTACCCGTCGGAAACGGTGA	0.552																																						ENST00000397708.1	1.000000	0.840000	1	9.200000e-01	0.970000	0.964464	0.970000	1.000000																										0				72						c.(2782-2784)tcC>tcT		minichromosome maintenance complex component 3 associated protein							70.0	54.0	59.0					21																	47686901		2203	4300	6503	SO:0001819	synonymous_variant	8888	3	121412	31				g.chr21:47686901G>A	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.2784C>T	chr21.hg19:g.47686901G>A		1					MCM3AP_ENST00000291688.1_Silent_p.S928S	p.S928S			0	1	1	1.813308	O60318	GANP_HUMAN		11	3038	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	1	1	hg19	c.2784C>T	CCDS13734.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_003906			31	30		123	120	1		1	1		0	0	37	0		1	9.999935e-01	0	10	0	70	0	31	123
MCM3AP	8888	broad.mit.edu	37	21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	871	SAC3 homology.				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)			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)					AAGTAACAGTGTAAAAGACAA	0.408																																						ENST00000397708.1	1.000000	0.830000	1	9.100000e-01	0.960000	0.960729	0.960000	1.000000																										0				72						c.(2611-2613)Cac>Tac		minichromosome maintenance complex component 3 associated protein							94.0	93.0	93.0					21																	47690332		2203	4300	6503	SO:0001583	missense	8888	0	0					g.chr21:47690332G>A	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.2611C>T	chr21.hg19:g.47690332G>A	ENSP00000380820:p.His871Tyr	1					MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y	p.H871Y			0	1	1	1.813308	O60318	GANP_HUMAN		10	2865	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	1	1	hg19	c.2611C>T	CCDS13734.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768739	0.90020	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58847	-0.7564	10	0.54805	T	0.06	-23.8917	20.4366	0.99092	0.0:0.0:1.0:0.0	.	871	O60318	MCM3A_HUMAN	Y	871	ENSP00000380820:H871Y;ENSP00000291688:H871Y	ENSP00000291688:H871Y	H	-	1	0	0	MCM3AP	46514760	46514760	1.000000	0.71417	0.589000	0.28718	0.976000	0.68499	9.526000	0.98042	2.837000	0.97791	0.591000	0.81541	CAC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.408	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-19.990730	1	0.170000	NM_003906			57	56		415	409	1		1	1		0	0	94	0		1	9.992305e-01	0	17	0	62	0	57	415
MCM3AP	8888	broad.mit.edu	37	21	47692708	47692708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	744	SAC3 homology.				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.T744T(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)					TCAGGGACACCGTCAGGGGGT	0.547																																						ENST00000397708.1	1.000000	0.890000	1	9.500000e-01	0.980000	0.980462	0.980000	1.000000																										1	Substitution - coding silent(1)	p.T744T(1)	endometrium(1)	72						c.(2230-2232)acG>acA		minichromosome maintenance complex component 3 associated protein							96.0	79.0	85.0					21																	47692708		2203	4300	6503	SO:0001819	synonymous_variant	8888	0	0					g.chr21:47692708C>T	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.2232G>A	chr21.hg19:g.47692708C>T		1					MCM3AP_ENST00000291688.1_Silent_p.T744T	p.T744T			0	1	1	1.813308	O60318	GANP_HUMAN		9	2486	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	1	1	hg19	c.2232G>A	CCDS13734.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.142600	1	0.170000	NM_003906			57	57		268	259	1		1	1		0	0	67	0		1	9.987941e-01	0	3	0	47	0	57	268
MCM3AP	8888	broad.mit.edu	37	21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	594					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)			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)					GCCTATCAGGGTACTGAGGGA	0.572																																						ENST00000397708.1	1.000000	0.690000	9.700000e-01	7.900000e-01	0.890000	0.887055	0.890000	1.000000																										0				72						c.(1780-1782)aCc>aTc		minichromosome maintenance complex component 3 associated protein							155.0	131.0	139.0					21																	47697518		2203	4300	6503	SO:0001583	missense	8888	0	0					g.chr21:47697518G>A	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.1781C>T	chr21.hg19:g.47697518G>A	ENSP00000380820:p.Thr594Ile	1					MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I	p.T594I			0	1	1	1.813308	O60318	GANP_HUMAN		6	2035	-	Breast(49;0.112)		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	1	1	hg19	c.1781C>T	CCDS13734.1	1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849474	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03553	3.89;3.89	5.74	4.81	0.61882	5.74	4.81	0.61882	.	1.098820	0.06689	N	0.769359	T	0.05181	0.0138	L	0.44542	1.39	0.21527	N	0.99966	B	0.12630	0.006	B	0.17098	0.017	T	0.33240	-0.9876	10	0.28530	T	0.3	-0.202	8.6736	0.34165	0.0:0.1341:0.6186:0.2473	.	594	O60318	MCM3A_HUMAN	I	594	ENSP00000380820:T594I;ENSP00000291688:T594I	ENSP00000291688:T594I	T	-	2	0	0	MCM3AP	46521946	46521946	0.922000	0.31269	0.073000	0.20177	0.298000	0.27526	1.328000	0.33758	2.715000	0.92844	0.655000	0.94253	ACC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_003906			48	48		492	488	1		1	1		0	0	123	0		1	9.836031e-01	0	8	0	60	0	48	492
PCNT	5116	broad.mit.edu	37	21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T	rs199564971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	195					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAACAGCGTGGGATCTT	0.488																																						ENST00000359568.5	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.922671	0.930000	1.000000																										0				104						c.(583-585)Cgt>Tgt		pericentrin							185.0	139.0	155.0					21																	47754626		2203	4300	6503	SO:0001583	missense	5116	4	121410	35				g.chr21:47754626C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.583C>T	chr21.hg19:g.47754626C>T	ENSP00000352572:p.Arg195Cys	1					PCNT_ENST00000480896.1_3'UTR	p.R195C	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		3	690	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	1	1	hg19	c.583C>T	CCDS33592.1	1	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434157	0.04669	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01685	4.69	0.235	-0.47	0.12131	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01353	0.0044	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.54805	T	0.06	.	.	.	.	.	77;195	O95613-2;O95613	.;PCNT_HUMAN	C	195;182	ENSP00000352572:R195C	ENSP00000338675:R182C	R	+	1	0	0	PCNT	46579054	46579054	0.219000	0.23619	0.002000	0.10522	0.002000	0.02628	0.882000	0.28186	-0.671000	0.05274	-0.657000	0.03884	CGT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.488	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-14.471780	1	0.170000	NM_006031			41	40		355	348	0		1	0		0	0	87	0		1	5.864914e-02	0	0	0	4	0	41	355
PCNT	5116	broad.mit.edu	37	21	47766794	47766794	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	ENST00000359568.5	+	5	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	286	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTCAACAGCCGGCGTGCCC	0.642																																						ENST00000359568.5	1.000000	0.740000	1	8.600000e-01	0.950000	0.934826	0.950000	1.000000																										0				104						c.(856-858)agC>agT		pericentrin							30.0	26.0	27.0					21																	47766794		2197	4298	6495	SO:0001819	synonymous_variant	5116	0	0					g.chr21:47766794C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.858C>T	chr21.hg19:g.47766794C>T		1					PCNT_ENST00000480896.1_3'UTR	p.S286S	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		5	965	+	Breast(49;0.112)		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	0	1	hg19	c.858C>T	CCDS33592.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.642	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_006031			16	16		54	52	0		1	1		0	0	9	0		9.999604e-01	8.257278e-01	0	4	0	9	0	16	54
PCNT	5116	broad.mit.edu	37	21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	387	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTGGCAGAACAGAGAGCTGA	0.368																																						ENST00000359568.5	1.000000	0.690000	9.700000e-01	7.900000e-01	0.880000	0.883638	0.880000	1.000000																										0				104						c.(1159-1161)Cag>Tag		pericentrin							119.0	124.0	123.0					21																	47769052		2203	4300	6503	SO:0001587	stop_gained	5116	0	0					g.chr21:47769052C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1159C>T	chr21.hg19:g.47769052C>T	ENSP00000352572:p.Gln387*	1					PCNT_ENST00000480896.1_3'UTR	p.Q387*	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		7	1266	+	Breast(49;0.112)		O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	0	1	hg19	c.1159C>T	CCDS33592.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.425935	0.97555	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.0807	0.59112	0.0:0.8266:0.1734:0.0	.	.	.	.	X	387;374	.	ENSP00000338675:Q374X	Q	+	1	0	0	PCNT	46593480	46593480	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	3.357000	0.52277	2.630000	0.89119	0.558000	0.71614	CAG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.368	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-14.532110	1	0.170000	NM_006031			55	52		578	567	0		1	0		0	0	130	0		1	5.600953e-01	0	1	0	20	0	55	578
PCNT	5116	broad.mit.edu	37	21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAACAGCTGGAGGTGGG	0.418																																						ENST00000359568.5	0.960000	0.440000	8.500000e-01	5.600000e-01	0.700000	0.708941	0.700000	0.690000																										0				104						c.(1339-1341)Ctg>Atg		pericentrin							65.0	68.0	67.0					21																	47769729		2203	4300	6503	SO:0001583	missense	5116	0	0					g.chr21:47769729C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1339C>A	chr21.hg19:g.47769729C>A	ENSP00000352572:p.Leu447Met	1					PCNT_ENST00000480896.1_3'UTR	p.L447M	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		8	1446	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	1	1	hg19	c.1339C>A	CCDS33592.1	0	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748161	0.30955	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	3.98	3.08	0.35506	3.98	3.08	0.35506	.	1.083490	0.07525	N	0.911145	T	0.38585	0.1046	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.936	T	0.18147	-1.0346	10	0.48119	T	0.1	.	4.6375	0.12531	0.2353:0.6496:0.0:0.1151	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	M	447;434	ENSP00000352572:L447M	ENSP00000338675:L434M	L	+	1	2	2	PCNT	46594157	46594157	0.633000	0.27181	0.235000	0.24058	0.204000	0.24138	0.734000	0.26101	1.269000	0.44280	0.551000	0.68910	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.999890	1	0.170000	NM_006031			20	20		281	277	0		1	1		0	0	67	0		9.999953e-01	4.953700e-01	0	2	0	22	0	20	281
PCNT	5116	broad.mit.edu	37	21	47786808	47786808	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	973					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTGGAATCCTGTTACCTCT	0.542																																						ENST00000359568.5	0.570000	0.250000	4.900000e-01	3.200000e-01	0.390000	0.410400	0.390000	0.390000																										0				104						c.(2917-2919)tcC>tcT		pericentrin							79.0	86.0	84.0					21																	47786808		2203	4300	6503	SO:0001819	synonymous_variant	5116	0	0					g.chr21:47786808C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2919C>T	chr21.hg19:g.47786808C>T		1					PCNT_ENST00000480896.1_3'UTR	p.S973S	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		15	3026	+	Breast(49;0.112)		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	1	1	hg19	c.2919C>T	CCDS33592.1	0																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-2.862805	1	0.170000	NM_006031			22	21		570	566	0		1	1		0	0	124	0		9.999986e-01	1.819041e-01	0	3	0	17	0	22	570
PCNT	5116	broad.mit.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706																																						ENST00000359568.5	1.000000	0.650000	9.900000e-01	8.000000e-01	0.920000	0.903474	0.920000	1.000000																										0				104						c.(4474-4476)Cgc>Tgc		pericentrin							18.0	18.0	18.0					21																	47817955		2188	4293	6481	SO:0001583	missense	5116	3	120696	26				g.chr21:47817955C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4474C>T	chr21.hg19:g.47817955C>T	ENSP00000352572:p.Arg1492Cys	1					PCNT_ENST00000480896.1_3'UTR	p.R1492C	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		23	4581	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	0	1	hg19	c.4474C>T	CCDS33592.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	0	PCNT	46642383	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.991630	1	0.170000	NM_006031			11	11		42	41	1		1	0		0	0	8	0		9.988095e-01	3.024591e-01	0	1	0	4	0	11	42
PCNT	5116	broad.mit.edu	37	21	47831618	47831618	+	Silent	SNP	C	C	T	rs16979162	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831618C>T	ENST00000359568.5	+	28	5738	c.5631C>T	c.(5629-5631)atC>atT	p.I1877I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1877					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTTAGAAATCGACGCTCTGA	0.637													T|||	892	0.178115	0.4879	0.0937	5008	,	,		16231	0.004		0.0895	False		,,,				2504	0.09					ENST00000359568.5	1.000000	0.910000	1	9.600000e-01	0.990000	0.985632	0.990000	1.000000																										0				104						c.(5629-5631)atC>atT		pericentrin		T		1837,2559		391,1055,752	27.0	30.0	29.0		5631	-11.6	0.0	21	dbSNP_123	29	632,7952		19,594,3679	no	coding-synonymous	PCNT	NM_006031.5		410,1649,4431	TT,TC,CC		7.3625,41.788,19.0216		1877/3337	47831618	2469,10511	2198	4292	6490	SO:0001819	synonymous_variant	5116	12254	120706	72				g.chr21:47831618C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5631C>T	chr21.hg19:g.47831618C>T		1					PCNT_ENST00000480896.1_3'UTR	p.I1877I	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		28	5738	+	Breast(49;0.112)		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	1	0	hg19	c.5631C>T	CCDS33592.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.637	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-0.877884	0	0.170000	NM_006031			60	59		222	220	1		1	1		0	0	60	0		1	5.367963e-01	0	4	0	4	0	60	222
PCNT	5116	broad.mit.edu	37	21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1989					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATGATGCTGCTTTGGAGCCG	0.617																																						ENST00000359568.5	1.000000	0.860000	1	9.300000e-01	0.970000	0.971205	0.970000	1.000000																										0				104						c.(5965-5967)gCt>gAt		pericentrin							23.0	26.0	25.0					21																	47831953		2188	4260	6448	SO:0001583	missense	5116	0	0					g.chr21:47831953C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5966C>A	chr21.hg19:g.47831953C>A	ENSP00000352572:p.Ala1989Asp	1					PCNT_ENST00000480896.1_3'UTR	p.A1989D	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		28	6073	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	1	1	hg19	c.5966C>A	CCDS33592.1	1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257216	0.10239	.	.	ENSG00000160299	ENST00000359568	T	0.01584	4.75	2.89	-3.84	0.04256	2.89	-3.84	0.04256	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	D;B	0.53745	0.962;0.0	P;B	0.45099	0.469;0.001	T	0.45425	-0.9262	9	0.13470	T	0.59	.	5.4084	0.16335	0.0:0.2433:0.5103:0.2463	.	1871;1989	O95613-2;O95613	.;PCNT_HUMAN	D	1989	ENSP00000352572:A1989D	ENSP00000352572:A1989D	A	+	2	0	0	PCNT	46656381	46656381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.840000	0.01684	-0.580000	0.05944	-0.373000	0.07131	GCT	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_006031			39	38		167	165	1		1	1		0	0	29	0		1	7.726241e-01	0	2	0	12	0	39	167
PCNT	5116	broad.mit.edu	37	21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGGCTTGCGTGCACCAG	0.627																																						ENST00000359568.5	1.000000	0.530000	9.600000e-01	6.900000e-01	0.840000	0.829149	0.840000	1.000000																										0				104						c.(8335-8337)tGc>tAc		pericentrin							35.0	35.0	35.0					21																	47851714		2203	4300	6503	SO:0001583	missense	5116	0	0					g.chr21:47851714G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8336G>A	chr21.hg19:g.47851714G>A	ENSP00000352572:p.Cys2779Tyr	1					PCNT_ENST00000480896.1_3'UTR	p.C2779Y	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		38	8443	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	1	1	hg19	c.8336G>A	CCDS33592.1	0	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981997	0.18812	.	.	ENSG00000160299	ENST00000359568	T	0.10960	2.82	3.24	3.24	0.37175	3.24	3.24	0.37175	.	.	.	.	.	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	D;P	0.73380	0.98;0.687	T	0.08513	-1.0718	9	0.06099	T	0.92	.	13.8003	0.63196	0.0:0.0:1.0:0.0	.	2661;2779	O95613-2;O95613	.;PCNT_HUMAN	Y	2779	ENSP00000352572:C2779Y	ENSP00000352572:C2779Y	C	+	2	0	0	PCNT	46676142	46676142	0.830000	0.29337	0.778000	0.31720	0.009000	0.06853	2.827000	0.48112	1.549000	0.49425	0.563000	0.77884	TGC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-19.918260	1	0.170000	NM_006031			14	14		134	131	1		1	1		0	0	48	0		9.997719e-01	7.589614e-01	0	4	0	24	0	14	134
PCNT	5116	broad.mit.edu	37	21	47851775	47851775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2799					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGAAGTCCCGGGTGGTGG	0.602																																						ENST00000359568.5	1.000000	0.870000	1	9.300000e-01	0.980000	0.973649	0.980000	1.000000																										0				104						c.(8395-8397)tcC>tcT		pericentrin							48.0	50.0	49.0					21																	47851775		2203	4300	6503	SO:0001819	synonymous_variant	5116	0	0					g.chr21:47851775C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8397C>T	chr21.hg19:g.47851775C>T		1					PCNT_ENST00000480896.1_3'UTR	p.S2799S	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		38	8504	+	Breast(49;0.112)		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	1	1	hg19	c.8397C>T	CCDS33592.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_006031			38	38		139	138	1		1	1		0	0	54	0		1	9.998727e-01	0	16	0	38	0	38	139
PCNT	5116	broad.mit.edu	37	21	47851912	47851912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851912C>T	ENST00000359568.5	+	38	8641	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2845					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACACTGAAGTCGACGGTGGAA	0.562																																						ENST00000359568.5	1.000000	0.600000	9.700000e-01	7.300000e-01	0.870000	0.858030	0.870000	1.000000																										0				104						c.(8533-8535)tCg>tTg		pericentrin							81.0	69.0	73.0					21																	47851912		2203	4300	6503	SO:0001583	missense	5116	0	0					g.chr21:47851912C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8534C>T	chr21.hg19:g.47851912C>T	ENSP00000352572:p.Ser2845Leu	1					PCNT_ENST00000480896.1_Intron	p.S2845L	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		38	8641	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	0	1	hg19	c.8534C>T	CCDS33592.1	1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625869	0.28889	.	.	ENSG00000160299	ENST00000359568	T	0.01527	4.8	4.7	1.88	0.25563	4.7	1.88	0.25563	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47824	-0.9087	9	0.31617	T	0.26	.	9.2226	0.37386	0.0:0.692:0.0:0.308	.	2845	O95613	PCNT_HUMAN	L	2845	ENSP00000352572:S2845L	ENSP00000352572:S2845L	S	+	2	0	0	PCNT	46676340	46676340	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	0.171000	0.19730	0.655000	0.94253	TCG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	1		16	5	2	1		1	1	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_006031			21	21		202	196	0		1	0		1	0	45	0		8.237252e-01	3.889421e-01	0	2	0	40	0	21	202
PCNT	5116	broad.mit.edu	37	21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T	rs375486259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3114	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCCCAGACCCCGGCCGGCTT	0.567																																						ENST00000359568.5	1.000000	0.940000	1	9.700000e-01	0.990000	0.993168	0.990000	1.000000																										0				104						c.(9340-9342)cCc>cTc		pericentrin		C	LEU/PRO	0,4406		0,0,2203	56.0	64.0	61.0		9341	2.1	0.0	21		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3114/3337	47860063	1,13005	2203	4300	6503	SO:0001583	missense	5116	0	0					g.chr21:47860063C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9341C>T	chr21.hg19:g.47860063C>T	ENSP00000352572:p.Pro3114Leu	1					PCNT_ENST00000480896.1_3'UTR	p.P3114L	NM_006031.5	NP_006022.3	0	1	1	1.813308	O95613	PCNT_HUMAN		42	9448	+	Breast(49;0.112)		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	1	1	hg19	c.9341C>T	CCDS33592.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.915887|2.915887	0.52546|0.52546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|T	0.01538|0.28454	4.79|1.61	4.96|4.96	2.12|2.12	0.27331|0.27331	4.96|4.96	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.025;0.015|.	B;B|.	0.17433|.	0.018;0.008|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|7	0.56958|0.15499	D|T	0.05|0.54	.|.	5.8823|5.8823	0.18862|0.18862	0.1533:0.6805:0.0:0.1662|0.1533:0.6805:0.0:0.1662	.|.	2917;3114|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	L|S	3114|95	ENSP00000352572:P3114L|ENSP00000404708:P95S	ENSP00000352572:P3114L|ENSP00000404708:P95S	P|P	+|+	2|1	0|0	0|0	PCNT|PCNT	46684491|46684491	46684491|46684491	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.134000|2.134000	0.42102|0.42102	0.335000|0.335000	0.23614|0.23614	-0.150000|-0.150000	0.13652|0.13652	CCC|CCG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1		2	2	2	0		0	0	116		116	112	1	2.060000	-2.966670	1	0.170000	NM_006031			111	111		509	503	1		1	1		0	0	116	0		1	9.782626e-01	0	10	0	20	0	111	509
DIP2A	23181	broad.mit.edu	37	21	47931370	47931370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000417564.2	+	8	966	c.945C>T	c.(943-945)agC>agT	p.S315S	DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000318711.7_Silent_p.S316S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000427143.2_Silent_p.S251S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	315					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)			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)		CTGAGGGAAGCGAGACGAGTG	0.532																																						ENST00000417564.2	1.000000	0.580000	9.800000e-01	7.400000e-01	0.880000	0.867991	0.880000	1.000000																										0				43						c.(943-945)agC>agT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							33.0	35.0	34.0					21																	47931370		1972	4155	6127	SO:0001819	synonymous_variant	23181	6	120856	34				g.chr21:47931370C>T	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.945C>T	chr21.hg19:g.47931370C>T		1					DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000318711.7_Silent_p.S316S	p.S315S			0	1	1	1.813308	Q14689	DIP2A_HUMAN		8	966	+	Breast(49;0.0933)		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	0	1	hg19	c.945C>T	CCDS46655.1	1																																																																																								9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1		2	2	2	0		0	0	22		22	19	1	2.060000	-19.477800	1	0.170000	NM_015151			12	12		84	83	1		1	1		0	0	22	0		9.992792e-01	9.677539e-01	0	21	0	23	0	12	84
DIP2A	23181	broad.mit.edu	37	21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000417564.2	+	8	1103	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	361					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)			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)		ACTGGGAAAGCCGTCTACACT	0.537																																						ENST00000417564.2	1.000000	0.480000	9.500000e-01	6.400000e-01	0.810000	0.803678	0.810000	1.000000																										0				43						c.(1081-1083)gCc>gTc		DIP2 disco-interacting protein 2 homolog A (Drosophila)							46.0	46.0	46.0					21																	47931507		1987	4174	6161	SO:0001583	missense	23181	0	0					g.chr21:47931507C>T	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.1082C>T	chr21.hg19:g.47931507C>T	ENSP00000392066:p.Ala361Val	1					DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V	p.A361V			0	1	1	1.813308	Q14689	DIP2A_HUMAN		8	1103	+	Breast(49;0.0933)		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	1	1	hg19	c.1082C>T	CCDS46655.1	0	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134557	0.09032	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.147808	0.46145	D	0.000305	T	0.49779	0.1577	L	0.46157	1.445	0.58432	D	0.999991	B;B;D;B;B;B	0.59767	0.003;0.001;0.986;0.302;0.002;0.01	B;B;P;B;B;B	0.52481	0.013;0.026;0.7;0.254;0.015;0.056	T	0.40175	-0.9577	10	0.35671	T	0.21	-18.538	18.0406	0.89318	0.0:1.0:0.0:0.0	.	362;297;318;361;361;361	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	357;297;362;318;361;318;361;361	ENSP00000383133:A357V;ENSP00000400528:A297V;ENSP00000323633:A362V;ENSP00000393434:A361V;ENSP00000430249:A318V;ENSP00000415089:A361V;ENSP00000392066:A361V	ENSP00000323633:A362V	A	+	2	0	0	DIP2A	46755935	46755935	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	5.959000	0.70339	2.505000	0.84491	0.563000	0.77884	GCC	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.537	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-17.000910	1	0.170000	NM_015151			11	10		108	106	0		1	1		0	0	34	0		9.983781e-01	8.909848e-01	0	4	0	37	0	11	108
DIP2A	23181	broad.mit.edu	37	21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000417564.2	+	21	2422	c.2401C>A	c.(2401-2403)Ctg>Atg	p.L801M	DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	801					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)			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)		TCAGGACAACCTGGTCTTCAT	0.612																																						ENST00000417564.2	1.000000	0.790000	1	8.900000e-01	0.960000	0.950767	0.960000	1.000000																										0				43						c.(2401-2403)Ctg>Atg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							78.0	84.0	82.0					21																	47966834		2133	4257	6390	SO:0001583	missense	23181	0	0					g.chr21:47966834C>A	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.2401C>A	chr21.hg19:g.47966834C>A	ENSP00000392066:p.Leu801Met	1					DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M	p.L801M			0	1	1	1.813308	Q14689	DIP2A_HUMAN		21	2422	+	Breast(49;0.0933)		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	1	1	hg19	c.2401C>A	CCDS46655.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979798	0.53827	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.41	2.55	0.30701	4.41	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000018	T	0.51890	0.1701	L	0.50993	1.605	0.51233	D	0.999918	D;P;D;D;D;B	0.89917	0.972;0.899;1.0;0.996;0.988;0.358	D;P;D;D;P;P	0.91635	0.928;0.53;0.999;0.913;0.856;0.577	T	0.47849	-0.9085	10	0.46703	T	0.11	-14.7334	7.009	0.24851	0.0:0.6354:0.0:0.3645	.	802;737;758;737;801;801	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	M	797;737;802;758;801;758;801;801	ENSP00000383133:L797M;ENSP00000400528:L737M;ENSP00000323633:L802M;ENSP00000393434:L801M;ENSP00000430249:L758M;ENSP00000415089:L801M;ENSP00000392066:L801M	ENSP00000323633:L802M	L	+	1	2	2	DIP2A	46791262	46791262	0.400000	0.25295	0.998000	0.56505	0.918000	0.54935	0.823000	0.27366	0.980000	0.38523	0.467000	0.42956	CTG	9.373806e-02		TCGA-IB-7651-01A-11D-2154-08	0.612	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015151			24	24		102	98	1		1	1		0	0	18	0		9.999998e-01	9.960948e-01	0	16	0	25	0	24	102
CCT8L2	150160	broad.mit.edu	37	22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	10					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				TGGGGCAGCTCCAGGGCTGAA	0.642																																						ENST00000359963.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(28-30)Gag>Tag		chaperonin containing TCP1, subunit 8 (theta)-like 2							30.0	35.0	33.0					22																	17073413		2203	4299	6502	SO:0001587	stop_gained	150160	0	0					g.chr22:17073413C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.28G>T	chr22.hg19:g.17073413C>A	ENSP00000353048:p.Glu10*	0						p.E10*	NM_014406.4	NP_055221.1	1	2	3	2.017290	Q96SF2	TCPQM_HUMAN		1	287	-	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)	A4QPH3|Q9UJS3	Nonsense_Mutation	SNP	ENST00000359963.3	0	1	hg19	c.28G>T	CCDS13738.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.512440	0.96402	.	.	ENSG00000198445	ENST00000359963	.	.	.	2.0	-0.773	0.10995	2.0	-0.773	0.10995	.	1.706560	0.04122	U	0.316429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.0478	7.4887	0.27449	0.0:0.4678:0.5322:0.0	.	.	.	.	X	10	.	ENSP00000353048:E10X	E	-	1	0	0	CCT8L2	15453413	15453413	0.000000	0.05858	0.009000	0.14445	0.625000	0.37756	0.513000	0.22770	-0.264000	0.09365	0.393000	0.25936	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				55	53		236	232	1		1			0	0	50	0		1	0	0	0	0	0	0	55	236
XKR3	150165	broad.mit.edu	37	22	17265006	17265006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	ENST00000331428.5	-	4	985	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				GAATTATTTTCTTTGTTGCCA	0.423																																						ENST00000331428.5	1.000000	0.320000	9.500000e-01	4.600000e-01	0.640000	0.673125	0.640000	1.000000																										0				21						c.(883-885)Gaa>Taa		XK, Kell blood group complex subunit-related family, member 3							16.0	14.0	15.0					22																	17265006		1408	3377	4785	SO:0001587	stop_gained	150165	0	0					g.chr22:17265006C>A	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.883G>T	chr22.hg19:g.17265006C>A	ENSP00000331704:p.Glu295*	0						p.E295*	NM_175878.3	NP_787074.2	1	2	3	2.017290	Q5GH77	XKR3_HUMAN		4	985	-	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)	B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	0	1	hg19	c.883G>T	CCDS42975.1	0	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486806	0.44249	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.771	-0.572	0.11745	0.771	-0.572	0.11745	.	0.133902	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0931	0.14720	0.0:0.7434:0.0:0.2566	.	.	.	.	X	295	.	ENSP00000331704:E295X	E	-	1	0	0	XKR3	15645006	15645006	0.998000	0.40836	0.001000	0.08648	0.075000	0.17131	4.875000	0.63072	-0.093000	0.12396	0.297000	0.19635	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	1		2	2	2	0		0	0	43		43	74	1	2.060000	-13.730710	1	0.170000	NM_175878			10	6		188	85	0		1			0	0	43	0		9.323280e-01	0	0	0	0	0	0	10	188
XKR3	150165	broad.mit.edu	37	22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TATTCAAAGGCCATTCTCGTA	0.348																																						ENST00000331428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(574-576)tgG>tgA		XK, Kell blood group complex subunit-related family, member 3							154.0	146.0	148.0					22																	17280674		1857	4098	5955	SO:0001587	stop_gained	150165	2	120822	35				g.chr22:17280674C>T	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.576G>A	chr22.hg19:g.17280674C>T	ENSP00000331704:p.Trp192*	0						p.W192*	NM_175878.3	NP_787074.2	1	2	3	2.017290	Q5GH77	XKR3_HUMAN		3	678	-	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)	B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	0	1	hg19	c.576G>A	CCDS42975.1	1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271058	0.40194	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.762	0.762	0.18454	0.762	0.762	0.18454	.	1.328570	0.06032	U	0.653304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.9778	0.09481	0.4122:0.5877:0.0:0.0	.	.	.	.	X	192	.	ENSP00000331704:W192X	W	-	3	0	0	XKR3	15660674	15660674	0.155000	0.22806	0.040000	0.18447	0.013000	0.08279	-0.245000	0.08890	0.752000	0.32923	0.289000	0.19496	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_175878			102	101		591	583	1		1			0	0	132	0		1	0	0	0	0	0	0	102	591
XKR3	150165	broad.mit.edu	37	22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				AAACATCAGGATAATTTGATC	0.338																																						ENST00000331428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(250-252)aTc>aCc		XK, Kell blood group complex subunit-related family, member 3							88.0	82.0	84.0					22																	17288713		1832	4081	5913	SO:0001583	missense	150165	0	0					g.chr22:17288713A>G	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.251T>C	chr22.hg19:g.17288713A>G	ENSP00000331704:p.Ile84Thr	0						p.I84T	NM_175878.3	NP_787074.2	1	2	3	2.017290	Q5GH77	XKR3_HUMAN		2	353	-	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)	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	1	1	hg19	c.251T>C	CCDS42975.1	1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.902450	0.00058	.	.	ENSG00000172967	ENST00000331428	T	0.61274	0.12	0.539	-1.08	0.09936	0.539	-1.08	0.09936	.	0.225560	0.35646	U	0.003072	T	0.15046	0.0363	N	0.00313	-1.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.13108	T	0.6	.	4.5592	0.12152	0.4621:0.0:0.5379:0.0	.	84	Q5GH77	XKR3_HUMAN	T	84	ENSP00000331704:I84T	ENSP00000331704:I84T	I	-	2	0	0	XKR3	15668713	15668713	0.919000	0.31177	0.010000	0.14722	0.048000	0.14542	0.251000	0.18257	-0.642000	0.05480	-0.779000	0.03376	ATC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_175878			84	83		298	296	1		1			0	0	82	0		1	0	0	0	0	0	0	84	298
GAB4	128954	broad.mit.edu	37	22	17447087	17447087	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGAGTGGGGAGCCAAGCAGGT	0.592																																						ENST00000400588.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1189-1191)ggC>ggT		GRB2-associated binding protein family, member 4							74.0	82.0	80.0					22																	17447087		2039	4215	6254	SO:0001819	synonymous_variant	128954	0	0					g.chr22:17447087G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1191C>T	chr22.hg19:g.17447087G>A		0					GAB4_ENST00000523144.1_5'Flank	p.G397G	NM_001037814.1	NP_001032903.1	1	2	3	2.017290	Q2WGN9	GAB4_HUMAN		6	1298	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)		Silent	SNP	ENST00000400588.1	1	1	hg19	c.1191C>T	CCDS42976.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	XM_372882			80	78		326	320	1		1			0	0	75	0		1	0	0	0	0	0	0	80	326
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																						ENST00000400588.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R92P(1)	kidney(1)	44						c.(274-276)cGc>cAc		GRB2-associated binding protein family, member 4							211.0	222.0	218.0					22																	17472966		2195	4300	6495	SO:0001583	missense	128954	2	121374	38				g.chr22:17472966C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	chr22.hg19:g.17472966C>T	ENSP00000383431:p.Arg92His	0					GAB4_ENST00000523144.1_5'UTR	p.R92H	NM_001037814.1	NP_001032903.1	1	2	3	2.017290	Q2WGN9	GAB4_HUMAN		2	382	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)		Missense_Mutation	SNP	ENST00000400588.1	1	1	hg19	c.275G>A	CCDS42976.1	1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	0	GAB4	15852966	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	1		2	2	2	0		0	0	259		259	256	1	2.060000	-20.000000	1	0.170000	XM_372882			216	214		989	966	1		1			0	0	259	0		1	0	0	0	0	0	0	216	989
GAB4	128954	broad.mit.edu	37	22	17488858	17488858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687																																						ENST00000400588.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				44						c.(145-147)tcG>tcA		GRB2-associated binding protein family, member 4							16.0	21.0	19.0					22																	17488858		2097	4237	6334	SO:0001819	synonymous_variant	128954	0	0					g.chr22:17488858C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.147G>A	chr22.hg19:g.17488858C>T		0					GAB4_ENST00000523144.1_5'UTR	p.S49S	NM_001037814.1	NP_001032903.1	1	2	3	2.017290	Q2WGN9	GAB4_HUMAN		1	254	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)		Silent	SNP	ENST00000400588.1	1	1	hg19	c.147G>A	CCDS42976.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	XM_372882			24	24		103	99	0		1			0	0	25	0		9.999998e-01	0	0	0	0	0	0	24	103
IL17RA	23765	broad.mit.edu	37	22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	341					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGCTCATCGTCTGCATGACC	0.587																																						ENST00000319363.6	1.000000	0.810000	1	9.900000e-01	0.990000	0.986748	0.990000	1.000000																										0				30						c.(1021-1023)gTc>gCc		interleukin 17 receptor A							94.0	73.0	80.0					22																	17586821		2203	4300	6503	SO:0001583	missense	23765	0	0					g.chr22:17586821T>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1022T>C	chr22.hg19:g.17586821T>C	ENSP00000320936:p.Val341Ala	0						p.V341A	NM_014339.5	NP_055154.3	1	2	3	2.017290	Q96F46	I17RA_HUMAN		11	1155	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	1	1	hg19	c.1022T>C	CCDS13739.1	1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818552	0.32145	.	.	ENSG00000177663	ENST00000319363	T	0.06528	3.29	5.21	5.21	0.72293	5.21	5.21	0.72293	.	1.277380	0.05326	N	0.527439	T	0.11793	0.0287	M	0.64997	1.995	0.23978	N	0.996285	B	0.34015	0.435	B	0.30401	0.115	T	0.36311	-0.9753	10	0.59425	D	0.04	-5.4492	12.8275	0.57728	0.0:0.0:0.0:1.0	.	341	Q96F46	I17RA_HUMAN	A	341	ENSP00000320936:V341A	ENSP00000320936:V341A	V	+	2	0	0	IL17RA	15966821	15966821	0.986000	0.35501	0.842000	0.33263	0.137000	0.21094	3.177000	0.50871	1.971000	0.57363	0.459000	0.35465	GTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_014339			20	20		168	165	1		1	1		0	0	33	0		9.999960e-01	9.810653e-01	0	16	0	41	0	20	168
IL17RA	23765	broad.mit.edu	37	22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	753					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		AGGCTTGATGCTCTCGCTCTT	0.662																																						ENST00000319363.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2257-2259)Ctc>Ttc		interleukin 17 receptor A							24.0	23.0	23.0					22																	17590366		2202	4299	6501	SO:0001583	missense	23765	0	0					g.chr22:17590366C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2257C>T	chr22.hg19:g.17590366C>T	ENSP00000320936:p.Leu753Phe	0						p.L753F	NM_014339.5	NP_055154.3	1	2	3	2.017290	Q96F46	I17RA_HUMAN		13	2390	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	1	1	hg19	c.2257C>T	CCDS13739.1	1	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436184	0.12104	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06294	3.32	4.48	-8.95	0.00765	4.48	-8.95	0.00765	.	1.479250	0.04012	N	0.298422	T	0.02047	0.0064	N	0.03608	-0.345	0.21897	N	0.999484	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.41574	-0.9501	10	0.02654	T	1	-2.7623	8.0081	0.30336	0.0:0.2511:0.2848:0.4641	.	701;753	D3YTB4;Q96F46	.;I17RA_HUMAN	F	701;753	ENSP00000320936:L753F	ENSP00000320936:L753F	L	+	1	0	0	IL17RA	15970366	15970366	0.700000	0.27796	0.009000	0.14445	0.239000	0.25481	-0.054000	0.11826	-1.855000	0.01162	-0.304000	0.09214	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_014339			31	31		96	93	1		1	1		0	0	31	0		1	9.999795e-01	0	12	0	46	0	31	96
CECR6	27439	broad.mit.edu	37	22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731																																						ENST00000331437.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(949-951)Gcc>Acc		cat eye syndrome chromosome region, candidate 6							59.0	49.0	52.0					22																	17601069		2203	4295	6498	SO:0001583	missense	27439	0	0					g.chr22:17601069C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.949G>A	chr22.hg19:g.17601069C>T	ENSP00000329318:p.Ala317Thr	0					CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	p.A317T	NM_031890.3	NP_114096.1	1	2	3	2.017290	Q9BXQ6	CECR6_HUMAN		1	1074	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	1	1	hg19	c.949G>A	CCDS13740.1	1	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363564	0.61513	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	3.51	0.40186	3.51	3.51	0.40186	.	0.000000	0.64402	U	0.000013	T	0.64670	0.2619	L	0.32530	0.975	0.49299	D	0.999779	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.59425	D	0.04	.	13.9866	0.64339	0.0:1.0:0.0:0.0	.	317	Q9BXQ6	CECR6_HUMAN	T	317	.	ENSP00000329318:A317T	A	-	1	0	0	CECR6	15981069	15981069	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.099000	0.64554	1.690000	0.51089	0.450000	0.29827	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_031890			84	83		316	305	0		1			0	0	86	0		1	0	0	0	0	0	0	84	316
CECR5	27440	broad.mit.edu	37	22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000336737.4	-	8	983	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	320						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCGCCGTATACGTCAGAC	0.557																																						ENST00000336737.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(958-960)Tac>Cac		cat eye syndrome chromosome region, candidate 5							46.0	45.0	45.0					22																	17619225		2203	4300	6503	SO:0001583	missense	27440	0	0					g.chr22:17619225A>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.958T>C	chr22.hg19:g.17619225A>G	ENSP00000337358:p.Tyr320His	0					CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H|CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H	p.Y320H	NM_033070.2	NP_149061.1	1	2	3	2.017290	Q9BXW7	CECR5_HUMAN		8	983	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	1	1	hg19	c.958T>C	CCDS33595.1	1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995841	0.54147	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.23147	1.92;1.92;1.92	4.47	4.47	0.54385	4.47	4.47	0.54385	HAD-like domain (2);	0.058061	0.64402	D	0.000001	T	0.51295	0.1666	M	0.84846	2.72	0.47214	D	0.999357	D;D;D;D	0.89917	0.96;1.0;1.0;1.0	P;D;D;D	0.80764	0.879;0.994;0.968;0.992	T	0.54337	-0.8309	10	0.17369	T	0.5	-9.4427	13.9375	0.64034	1.0:0.0:0.0:0.0	.	290;120;320;184	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	290;320;120	ENSP00000155674:Y290H;ENSP00000337358:Y320H;ENSP00000382745:Y120H	ENSP00000155674:Y290H	Y	-	1	0	0	CECR5	15999225	15999225	1.000000	0.71417	0.972000	0.41901	0.005000	0.04900	8.591000	0.90824	1.880000	0.54463	0.459000	0.35465	TAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_017829			52	51		264	258	1		1	1		0	0	79	0		1	1	0	54	0	87	0	52	264
CECR1	51816	broad.mit.edu	37	22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	389					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)			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)				GGGGTGTTTGCTCAAAGCAAA	0.498																																						ENST00000399839.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1165-1167)aGc>aAc		cat eye syndrome chromosome region, candidate 1							172.0	154.0	160.0					22																	17663567		2203	4300	6503	SO:0001583	missense	51816	0	0					g.chr22:17663567C>T	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.1166G>A	chr22.hg19:g.17663567C>T	ENSP00000382733:p.Ser389Asn	0					CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N	p.S389N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	1	2	3	2.017290	Q9NZK5	CECR1_HUMAN		8	1436	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	1	1	hg19	c.1166G>A	CCDS13742.1	1	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.691072	0.03303	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	3.97	-6.59	0.01830	3.97	-6.59	0.01830	Adenosine/AMP deaminase (1);	0.583494	0.19011	N	0.125077	D	0.88793	0.6533	M	0.61703	1.905	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.74520	-0.3638	10	0.28530	T	0.3	.	6.1549	0.20332	0.3327:0.1248:0.4714:0.0711	.	389;148	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	389;148;389;347;389	ENSP00000382733:S389N;ENSP00000332871:S148N;ENSP00000262607:S389N;ENSP00000406443:S347N;ENSP00000382731:S389N	ENSP00000262607:S389N	S	-	2	0	0	CECR1	16043567	16043567	0.000000	0.05858	0.073000	0.20177	0.072000	0.16883	-1.682000	0.01935	-1.386000	0.02098	-0.424000	0.05967	AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				114	111		353	343	1		1	0		0	0	110	0		1	1	0	0	0	321	0	114	353
CECR2	27443	broad.mit.edu	37	22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400585.2	+	9	961	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C|CECR2_ENST00000342247.5_Missense_Mutation_p.R268C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	338					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)				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)		GGAAGAAGAGCGTCAGATTCT	0.493																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999454	0.990000	1.000000																										0				59						c.(523-525)Cgt>Tgt		cat eye syndrome chromosome region, candidate 2							70.0	73.0	72.0					22																	18003201		2058	4201	6259	SO:0001583	missense	27443	0	0					g.chr22:18003201C>T	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.523C>T	chr22.hg19:g.18003201C>T	ENSP00000383428:p.Arg175Cys	0					CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C|CECR2_ENST00000342247.5_Missense_Mutation_p.R268C	p.R175C			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		9	961	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.523C>T		1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008830	0.75046	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.44083	0.93;1.55;1.56;1.17	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	T	0.62073	0.2398	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.997;0.996	T	0.63274	-0.6674	10	0.87932	D	0	-22.3781	14.5723	0.68220	0.1463:0.8537:0.0:0.0	.	338;175;310;316	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	C	268;175;316;297	ENSP00000341219:R268C;ENSP00000383428:R175C;ENSP00000383417:R316C;ENSP00000262608:R297C	ENSP00000262608:R297C	R	+	1	0	0	CECR2	16383201	16383201	0.920000	0.31207	0.762000	0.31397	0.862000	0.49288	1.218000	0.32467	2.764000	0.94973	0.650000	0.86243	CGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-10.373800	1	0.170000	NM_031413			12	12		48	47	1		1	0		0	0	19	0		9.993876e-01	0	0	0	0	1	0	12	48
CECR2	27443	broad.mit.edu	37	22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A	rs200166225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400585.2	+	16	1993	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	702	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)				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)		CCTCCGAGGACCCAGGCTAGG	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.0					ENST00000400585.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994235	0.990000	1.000000																										0				59						c.(1555-1557)Ccc>Acc		cat eye syndrome chromosome region, candidate 2		C	THR/PRO	20,3952		0,20,1966	34.0	34.0	34.0		1978	4.2	0.9	22		34	1,8319		0,1,4159	yes	missense	CECR2	NM_031413.3	38	0,21,6125	AA,AC,CC		0.012,0.5035,0.1708	benign	660/1443	18021876	21,12271	1986	4160	6146	SO:0001583	missense	27443	66	120900	45				g.chr22:18021876C>A	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.1555C>A	chr22.hg19:g.18021876C>A	ENSP00000383428:p.Pro519Thr	0					CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T	p.P519T			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		16	1993	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.1555C>A		1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338446	0.24253	0.005035	1.2E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25085	1.94;1.94;1.82	5.21	4.19	0.49359	5.21	4.19	0.49359	.	0.247728	0.28706	N	0.014409	T	0.19765	0.0475	L	0.56769	1.78	0.33570	D	0.598544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.26189	-1.0110	10	0.45353	T	0.12	-11.8315	13.0016	0.58679	0.0:0.9212:0.0:0.0788	.	702;519;660	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	519;660;661	ENSP00000383428:P519T;ENSP00000383417:P660T;ENSP00000262608:P661T	ENSP00000262608:P661T	P	+	1	0	0	CECR2	16401876	16401876	0.981000	0.34729	0.915000	0.36163	0.467000	0.32768	1.946000	0.40283	1.408000	0.46895	0.655000	0.94253	CCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-4.264964	1	0.170000	NM_031413			12	12		76	74	1		1			0	0	21	0		9.992435e-01	0	0	0	0	0	0	12	76
CECR2	27443	broad.mit.edu	37	22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400585.2	+	16	2123	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	745					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)				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)		AGCATGTATGCTCCAGCTCAG	0.582																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				59						c.(1684-1686)gCt>gTt		cat eye syndrome chromosome region, candidate 2							24.0	26.0	25.0					22																	18022006		1954	4148	6102	SO:0001583	missense	27443	0	0					g.chr22:18022006C>T	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.1685C>T	chr22.hg19:g.18022006C>T	ENSP00000383428:p.Ala562Val	0					CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V	p.A562V			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		16	2123	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.1685C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249044	0.22880	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.43	4.39	0.52855	5.43	4.39	0.52855	.	0.517672	0.17787	N	0.162033	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.23852	0.049;0.031;0.031	T	0.23368	-1.0190	10	0.72032	D	0.01	-0.7584	16.1858	0.81950	0.0:0.8667:0.1333:0.0	.	745;562;703	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	562;703;704	ENSP00000383428:A562V;ENSP00000383417:A703V;ENSP00000262608:A704V	ENSP00000262608:A704V	A	+	2	0	0	CECR2	16402006	16402006	0.194000	0.23325	0.026000	0.17262	0.040000	0.13550	3.616000	0.54174	1.487000	0.48415	0.655000	0.94253	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000	NM_031413			22	21		98	98	1		1			0	0	16	0		9.999994e-01	0	0	0	0	0	0	22	98
CECR2	27443	broad.mit.edu	37	22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400585.2	+	16	2257	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	790					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)				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)		GAATCGAGTACACTCTGCCGT	0.592																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1819-1821)Cac>Tac		cat eye syndrome chromosome region, candidate 2							38.0	41.0	40.0					22																	18022140		1941	4135	6076	SO:0001583	missense	27443	0	0					g.chr22:18022140C>T	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.1819C>T	chr22.hg19:g.18022140C>T	ENSP00000383428:p.His607Tyr	0					CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y	p.H607Y			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		16	2257	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.1819C>T		1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.191860	0.58017	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28454	1.73;1.72;1.61	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.219710	0.31847	N	0.006966	T	0.33323	0.0859	M	0.62723	1.935	0.41284	D	0.986931	P;P;P	0.46395	0.877;0.8;0.8	B;B;B	0.37943	0.261;0.261;0.261	T	0.36841	-0.9731	10	0.87932	D	0	-16.3606	17.289	0.87150	0.0:1.0:0.0:0.0	.	790;607;748	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	607;748;749	ENSP00000383428:H607Y;ENSP00000383417:H748Y;ENSP00000262608:H749Y	ENSP00000262608:H749Y	H	+	1	0	0	CECR2	16402140	16402140	0.957000	0.32711	0.998000	0.56505	0.908000	0.53690	2.757000	0.47557	2.756000	0.94617	0.561000	0.74099	CAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_031413			45	45		192	189	1		1			0	0	36	0		1	0	0	0	0	0	0	45	192
CECR2	27443	broad.mit.edu	37	22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400585.2	+	16	2288	c.1850C>A	c.(1849-1851)gCt>gAt	p.A617D	CECR2_ENST00000400573.5_Missense_Mutation_p.A758D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	800					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)				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)		AACCATGGTGCTACGAACCAA	0.557																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999707	0.990000	1.000000																										0				59						c.(1849-1851)gCt>gAt		cat eye syndrome chromosome region, candidate 2							41.0	46.0	44.0					22																	18022171		1965	4144	6109	SO:0001583	missense	27443	0	0					g.chr22:18022171C>A	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.1850C>A	chr22.hg19:g.18022171C>A	ENSP00000383428:p.Ala617Asp	0					CECR2_ENST00000400573.5_Missense_Mutation_p.A758D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D	p.A617D			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		16	2288	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.1850C>A		1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997072	0.54147	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27720	1.77;1.76;1.65	5.29	4.25	0.50352	5.29	4.25	0.50352	.	0.627641	0.14414	N	0.321059	T	0.33294	0.0858	L	0.56769	1.78	0.33771	D	0.622995	P;P;P	0.42409	0.779;0.664;0.664	B;B;B	0.39299	0.296;0.296;0.296	T	0.52442	-0.8575	10	0.52906	T	0.07	-8.8794	14.2317	0.65898	0.0:0.851:0.149:0.0	.	800;617;758	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	617;758;759	ENSP00000383428:A617D;ENSP00000383417:A758D;ENSP00000262608:A759D	ENSP00000262608:A759D	A	+	2	0	0	CECR2	16402171	16402171	0.217000	0.23597	0.992000	0.48379	0.859000	0.49053	0.696000	0.25541	1.428000	0.47296	0.561000	0.74099	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	0		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_031413			32	32		209	206	1		1			0	0	40	0		1	0	0	0	0	0	0	32	209
CECR2	27443	broad.mit.edu	37	22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400585.2	+	16	2486	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	866					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)				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)		CCCTGCAAGTCTGCCGGACAT	0.602																																						ENST00000400585.2	1.000000	0.300000	7.100000e-01	3.900000e-01	0.510000	0.565517	0.510000	0.480000																										0				59						c.(2047-2049)tCt>tAt		cat eye syndrome chromosome region, candidate 2							61.0	66.0	64.0					22																	18022369		2075	4211	6286	SO:0001583	missense	27443	0	0					g.chr22:18022369C>A	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.2048C>A	chr22.hg19:g.18022369C>A	ENSP00000383428:p.Ser683Tyr	0					CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y	p.S683Y			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		16	2486	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.2048C>A		0	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555683	0.65425	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.54;1.44	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.393815	0.21845	N	0.068264	T	0.46288	0.1385	L	0.60455	1.87	0.30810	N	0.738989	D;D;D	0.61080	0.976;0.989;0.976	P;P;P	0.57283	0.726;0.817;0.726	T	0.51601	-0.8685	10	0.87932	D	0	-8.3622	13.8455	0.63466	0.0:0.8475:0.1525:0.0	.	866;683;824	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	683;824;825	ENSP00000383428:S683Y;ENSP00000383417:S824Y;ENSP00000262608:S825Y	ENSP00000262608:S825Y	S	+	2	0	0	CECR2	16402369	16402369	0.172000	0.23043	0.790000	0.31976	0.879000	0.50718	2.245000	0.43133	2.756000	0.94617	0.561000	0.74099	TCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	99		99	96	1	2.060000	-16.474500	1	0.170000	NM_031413			16	16		370	362	0		1			0	0	99	0		9.999252e-01	0	0	0	0	0	0	16	370
CECR2	27443	broad.mit.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					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)				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)		CGGCAGAGCTCGTTGTCAGCC	0.512																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3439-3441)tCg>tTg		cat eye syndrome chromosome region, candidate 2							83.0	87.0	85.0					22																	18028909		1946	4144	6090	SO:0001583	missense	27443	0	0					g.chr22:18028909C>T	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.3440C>T	chr22.hg19:g.18028909C>T	ENSP00000383428:p.Ser1147Leu	0					CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L	p.S1147L			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		17	3878	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	1	1	hg19	c.3440C>T		1	.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	0	CECR2	16408909	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-3.211725	1	0.170000	NM_031413			105	105		430	422	1		1			0	0	121	0		1	0	0	0	0	0	0	105	430
CECR2	27443	broad.mit.edu	37	22	18031740	18031740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400585.2	+	18	4248	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	CECR2_ENST00000400573.5_Silent_p.S1412S|CECR2_ENST00000262608.8_Silent_p.S1413S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1454					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)				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)		CGGTCCAGTCGCAGGCCTCGT	0.507																																						ENST00000400585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3808-3810)tcG>tcA		cat eye syndrome chromosome region, candidate 2							69.0	73.0	72.0					22																	18031740		2080	4208	6288	SO:0001819	synonymous_variant	27443	11	121070	41				g.chr22:18031740G>A	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.3810G>A	chr22.hg19:g.18031740G>A		0					CECR2_ENST00000400573.5_Silent_p.S1412S|CECR2_ENST00000262608.8_Silent_p.S1413S	p.S1270S			1	2	3	2.017290	Q9BXF3	CECR2_HUMAN		18	4248	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	1	1	hg19	c.3810G>A		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_031413			58	57		322	305	1		1	0		0	0	83	0		1	0	0	0	0	1	0	58	322
BCL2L13	23786	broad.mit.edu	37	22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000317582.5	+	4	594	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000355028.3_Missense_Mutation_p.F83V|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000538149.1_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	83					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)			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)		CAGCACAGGCTTTGACCGTCA	0.443																																						ENST00000317582.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(247-249)Ttt>Gtt		BCL2-like 13 (apoptosis facilitator)							91.0	88.0	89.0					22																	18171769		2203	4300	6503	SO:0001583	missense	23786	0	0					g.chr22:18171769T>G	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.247T>G	chr22.hg19:g.18171769T>G	ENSP00000318883:p.Phe83Val	0					BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000355028.3_Missense_Mutation_p.F83V|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Intron	p.F83V	NM_015367.3	NP_056182.2	1	2	3	2.017290	Q9BXK5	B2L13_HUMAN		4	594	+		all_epithelial(15;0.123)	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	1	1	hg19	c.247T>G	CCDS13746.1	1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515006	0.85389	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.937;0.996;0.937	T	0.01617	-1.1311	10	0.62326	D	0.03	-18.3954	15.7532	0.78005	0.0:0.0:0.0:1.0	.	83;83;83	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	V	83	ENSP00000382682:F83V;ENSP00000318883:F83V;ENSP00000434764:F83V;ENSP00000347133:F83V	ENSP00000318883:F83V	F	+	1	0	0	BCL2L13	16551769	16551769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.117000	0.64856	0.460000	0.39030	TTT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015367			104	101		421	405	1		1	1		0	0	77	0		1	1	0	73	0	118	0	104	421
MICAL3	57553	broad.mit.edu	37	22	18273538	18273538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18273538G>A	ENST00000441493.2	-	32	6321	c.5969C>T	c.(5968-5970)gCt>gTt	p.A1990V	MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1990					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGCATGGCAGCCTCCAGGTC	0.607																																						ENST00000441493.2	1.000000	0.200000	1	3.500000e-01	0.590000	0.631375	0.590000	1.000000																										0				4						c.(5968-5970)gCt>gTt		microtubule associated monooxygenase, calponin and LIM domain containing 3							35.0	39.0	38.0					22																	18273538		2088	4214	6302	SO:0001583	missense	57553	0	0					g.chr22:18273538G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5969C>T	chr22.hg19:g.18273538G>A	ENSP00000416015:p.Ala1990Val	0					MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	p.A1990V	NM_015241.2	NP_056056.2	1	2	3	2.017290	Q7RTP6	MICA3_HUMAN		32	6321	-		all_epithelial(15;0.198)	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	0	1	hg19	c.5969C>T	CCDS46659.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271560	0.80469	.	.	ENSG00000093100	ENST00000441493	T	0.66099	-0.19	5.0	3.98	0.46160	5.0	3.98	0.46160	.	0.281639	0.31566	N	0.007430	T	0.73210	0.3558	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.73990	-0.3808	10	0.59425	D	0.04	.	8.843	0.35153	0.0764:0.0:0.7759:0.1478	.	1990	Q7RTP6	MICA3_HUMAN	V	1990	ENSP00000416015:A1990V	ENSP00000416015:A1990V	A	-	2	0	0	XXbac-B461K10.4	16653538	16653538	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	5.543000	0.67225	1.242000	0.43836	-0.291000	0.09656	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	0	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-8.024596	1	0.170000				4	4		88	85	0		1	0		0	0	16	0		8.839978e-01	4.537154e-01	0	1	0	29	0	4	88
MICAL3	57553	broad.mit.edu	37	22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1422	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGGACAGCTCCCTGCGC	0.682																																						ENST00000441493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(4264-4266)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 3							29.0	35.0	33.0					22																	18301163		2011	4164	6175	SO:0001583	missense	57553	0	0					g.chr22:18301163G>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4264C>A	chr22.hg19:g.18301163G>T	ENSP00000416015:p.Leu1422Met	0					MICAL3_ENST00000580469.1_5'Flank	p.L1422M	NM_015241.2	NP_056056.2	1	2	3	2.017290	Q7RTP6	MICA3_HUMAN		26	4616	-		all_epithelial(15;0.198)	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	1	1	hg19	c.4264C>A	CCDS46659.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657804|2.657804	0.47467|0.47467	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70282|.	-0.47|.	4.42|4.42	3.15|3.15	0.36227|0.36227	4.42|4.42	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	P|.	0.46659|.	0.523|.	T|T	0.53265|0.53265	-0.8463|-0.8463	9|5	0.49607|.	T|.	0.09|.	.|.	2.3109|2.3109	0.04186|0.04186	0.1661:0.1829:0.4897:0.1613|0.1661:0.1829:0.4897:0.1613	.|.	1422|.	Q7RTP6|.	MICA3_HUMAN|.	M|R	1422|403	ENSP00000416015:L1422M|.	ENSP00000416015:L1422M|.	L|S	-|-	1|3	2|2	2|2	XXbac-B461K10.4|XXbac-B461K10.4	16681163|16681163	16681163|16681163	0.779000|0.779000	0.28652|0.28652	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.914000|0.914000	0.28624|0.28624	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CTG|AGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				107	105		333	330	0		1	1		0	0	65	0		1	9.529585e-01	0	7	0	11	0	107	333
MICAL3	57553	broad.mit.edu	37	22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	163	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502																																						ENST00000441493.2	1.000000	0.730000	1	9.900000e-01	0.990000	0.981486	0.990000	1.000000																										0				4						c.(487-489)cAa>cGa		microtubule associated monooxygenase, calponin and LIM domain containing 3							103.0	91.0	95.0					22																	18385498		1568	3581	5149	SO:0001583	missense	57553	0	0					g.chr22:18385498T>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.488A>G	chr22.hg19:g.18385498T>C	ENSP00000416015:p.Gln163Arg	0					MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R	p.Q163R	NM_015241.2	NP_056056.2	1	2	3	2.017290	Q7RTP6	MICA3_HUMAN		4	840	-		all_epithelial(15;0.198)	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	0	1	hg19	c.488A>G	CCDS46659.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633749	0.87660	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.93197	3.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.999;0.985;1.0;1.0;0.985	T	0.54715	-0.8252	10	0.87932	D	0	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	163;163;163;163;163	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	163	ENSP00000416015:Q163R;ENSP00000414846:Q163R;ENSP00000383406:Q163R;ENSP00000410315:Q163R;ENSP00000391827:Q163R;ENSP00000372574:Q163R;ENSP00000207726:Q163R	ENSP00000207726:Q163R	Q	-	2	0	0	XXbac-B461K10.4;MICAL3	16765498	16765498	1.000000	0.71417	0.937000	0.37676	0.841000	0.47740	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-13.865920	1	0.170000				7	7		45	45	1		1	1		0	0	14	0		9.831882e-01	6.715706e-01	0	4	0	12	0	7	45
MICAL3	57553	broad.mit.edu	37	22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	155	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478																																						ENST00000441493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(463-465)Gac>Aac		microtubule associated monooxygenase, calponin and LIM domain containing 3							208.0	188.0	194.0					22																	18387407		1568	3582	5150	SO:0001583	missense	57553	1	121380	35				g.chr22:18387407C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.463G>A	chr22.hg19:g.18387407C>T	ENSP00000416015:p.Asp155Asn	0					MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N	p.D155N	NM_015241.2	NP_056056.2	1	2	3	2.017290	Q7RTP6	MICA3_HUMAN		3	815	-		all_epithelial(15;0.198)	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	1	1	hg19	c.463G>A	CCDS46659.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.808007	0.96967	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.962;0.753;0.994;0.973	T	0.00529	-1.1687	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	155;155;155;155;155	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	155	ENSP00000416015:D155N;ENSP00000414846:D155N;ENSP00000383406:D155N;ENSP00000410315:D155N;ENSP00000391827:D155N;ENSP00000372574:D155N;ENSP00000207726:D155N	ENSP00000207726:D155N	D	-	1	0	0	XXbac-B461K10.4;MICAL3	16767407	16767407	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	1		2	2	2	0		0	0	182		182	179	1	2.060000	-20.000000	1	0.170000				130	128		609	600	1		1	1		0	0	182	0		1	8.495217e-01	0	5	0	13	0	130	609
TUBA8	51807	broad.mit.edu	37	22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C	rs575784867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000330423.3	+	2	239	c.166A>C	c.(166-168)Act>Cct	p.T56P	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	56					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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTCAGCGAGACTGGCAATGG	0.557																																						ENST00000330423.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(166-168)Act>Cct		tubulin, alpha 8							92.0	80.0	84.0					22																	18604408		2203	4300	6503	SO:0001583	missense	51807	0	0					g.chr22:18604408A>C	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.166A>C	chr22.hg19:g.18604408A>C	ENSP00000333326:p.Thr56Pro	0					TUBA8_ENST00000316027.6_5'UTR	p.T56P	NM_018943.2	NP_061816.1	1	2	3	2.017290	Q9NY65	TBA8_HUMAN		2	239	+			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	1	1	hg19	c.166A>C	CCDS13751.1	1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818843	0.50633	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.171645	0.50627	D	0.000104	T	0.80423	0.4620	H	0.95260	3.645	0.54753	D	0.999987	B;B;B	0.24186	0.058;0.022;0.099	B;B;B	0.27796	0.083;0.027;0.044	T	0.82376	-0.0488	10	0.87932	D	0	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	80;56;55	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	P	56;80	ENSP00000333326:T56P;ENSP00000412646:T80P	ENSP00000333326:T56P	T	+	1	0	0	TUBA8	16984408	16984408	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.339000	0.96797	2.030000	0.59900	0.459000	0.35465	ACT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_018943			51	51		234	230	1		1	0		0	0	44	0		1	4.388277e-01	0	1	0	7	0	51	234
TUBA8	51807	broad.mit.edu	37	22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000330423.3	+	4	504	c.431G>A	c.(430-432)gGc>gAc	p.G144D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTGGTGGGGGCACTGGCTCC	0.537																																						ENST00000330423.3	1.000000	0.280000	5.700000e-01	3.500000e-01	0.430000	0.494777	0.430000	0.420000																										0				14						c.(430-432)gGc>gAc		tubulin, alpha 8							95.0	99.0	97.0					22																	18609176		2203	4300	6503	SO:0001583	missense	51807	0	0					g.chr22:18609176G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.431G>A	chr22.hg19:g.18609176G>A	ENSP00000333326:p.Gly144Asp	0					TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	p.G144D	NM_018943.2	NP_061816.1	1	2	3	2.017290	Q9NY65	TBA8_HUMAN		4	504	+			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	1	1	hg19	c.431G>A	CCDS13751.1	0	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520016	0.64634	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	5.49	0.81192	5.49	5.49	0.81192	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.99983	5.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99466	1.0944	10	0.87932	D	0	.	18.7174	0.91680	0.0:0.0:1.0:0.0	.	168;144	C9J2C0;Q9NY65	.;TBA8_HUMAN	D	78;144;168	ENSP00000318575:G78D;ENSP00000333326:G144D;ENSP00000412646:G168D	ENSP00000318575:G78D	G	+	2	0	0	TUBA8	16989176	16989176	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	0	0	1		2	2	2	0		0	0	156		156	153	1	2.060000	-3.300855	1	0.170000	NM_018943			26	26		704	681	0		1	0		0	0	156	0		9.999999e-01	1.055375e-01	0	0	0	15	0	26	704
TUBA8	51807	broad.mit.edu	37	22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000330423.3	+	4	914	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	281					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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCCGAGAAAGCCTATCACGA	0.582																																						ENST00000330423.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(841-843)Gcc>Acc		tubulin, alpha 8							113.0	92.0	99.0					22																	18609586		2203	4300	6503	SO:0001583	missense	51807	0	0					g.chr22:18609586G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.841G>A	chr22.hg19:g.18609586G>A	ENSP00000333326:p.Ala281Thr	0					TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	p.A281T	NM_018943.2	NP_061816.1	1	2	3	2.017290	Q9NY65	TBA8_HUMAN		4	914	+			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	1	1	hg19	c.841G>A	CCDS13751.1	1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.183629	0.78677	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82081	-1.57;-1.57;-1.57	5.67	5.67	0.87782	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.96048	3.76	0.80722	D	1	P;P;B	0.49783	0.91;0.928;0.064	P;P;B	0.51945	0.569;0.685;0.058	D	0.94254	0.7496	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	215;305;281	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	215;281;305	ENSP00000318575:A215T;ENSP00000333326:A281T;ENSP00000412646:A305T	ENSP00000318575:A215T	A	+	1	0	0	TUBA8	16989586	16989586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_018943			112	111		459	451	1		1	1		0	0	118	0		1	8.923441e-01	0	4	0	14	0	112	459
DGCR6	8214	broad.mit.edu	37	22	18898402	18898402	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	125					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657																																						ENST00000331444.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				3						c.(373-375)gCg>gTg		DiGeorge syndrome critical region gene 6							30.0	29.0	30.0					22																	18898402		2202	4299	6501	SO:0001630	splice_region_variant	8214	2	121076	29				g.chr22:18898402C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.373-1C>T	chr22.hg19:g.18898402C>T		0					DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A125V	NM_005675.4	NP_005666.2	1	2	3	2.017290	Q14129	DGCR6_HUMAN		4	526	+			B2RCH5|D3DX15|G5E9J8|Q9BY28	Splice_Site	SNP	ENST00000331444.6	1	0	hg19	c.374C>T	CCDS13753.1	1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870249	0.51588	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.32988	1.43	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.324157	0.31976	N	0.006774	T	0.33498	0.0865	M	0.67953	2.075	0.46437	D	0.999046	B	0.24368	0.102	B	0.14578	0.011	T	0.11446	-1.0587	10	0.38643	T	0.18	-11.6622	15.7939	0.78394	0.0:1.0:0.0:0.0	.	125	Q14129	DGCR6_HUMAN	V	125;45	ENSP00000331681:A125V	ENSP00000331681:A125V	A	+	2	0	0	DGCR6	17278402	17278402	0.995000	0.38212	0.929000	0.37066	0.011000	0.07611	3.266000	0.51569	2.421000	0.82119	0.430000	0.28490	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-3.437183	1	0.170000	NM_005675	Missense_Mutation		36	35		166	162	0		1	1		0	0	28	0		1	9.999349e-01	0	19	0	53	0	36	166
DGCR6	8214	broad.mit.edu	37	22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	136					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677																																						ENST00000331444.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(406-408)gCg>gTg		DiGeorge syndrome critical region gene 6							84.0	69.0	74.0					22																	18898435		2203	4298	6501	SO:0001583	missense	8214	1	121310	28				g.chr22:18898435C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.407C>T	chr22.hg19:g.18898435C>T	ENSP00000331681:p.Ala136Val	0					DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A136V	NM_005675.4	NP_005666.2	1	2	3	2.017290	Q14129	DGCR6_HUMAN		4	559	+			B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	1	1	hg19	c.407C>T	CCDS13753.1	1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111898	0.37242	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.30182	1.54	4.84	3.8	0.43715	4.84	3.8	0.43715	.	0.137408	0.64402	D	0.000006	T	0.18718	0.0449	L	0.34521	1.04	0.22066	N	0.999382	P	0.38767	0.646	B	0.31495	0.131	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.7504	8.0617	0.30638	0.0:0.8115:0.0:0.1885	.	136	Q14129	DGCR6_HUMAN	V	136;56	ENSP00000331681:A136V	ENSP00000331681:A136V	A	+	2	0	0	DGCR6	17278435	17278435	0.300000	0.24435	0.838000	0.33150	0.545000	0.35147	2.182000	0.42556	2.421000	0.82119	0.430000	0.28490	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999960	1	0.170000	NM_005675			43	43		201	196	1		1	1		0	0	25	0		1	9.999924e-01	0	24	0	63	0	43	201
PRODH	5625	broad.mit.edu	37	22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	234					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572																																						ENST00000357068.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(700-702)aaG>aaT		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						105.0	106.0	105.0					22																	18910658		2203	4300	6503	SO:0001583	missense	5625	0	0					g.chr22:18910658C>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.702G>T	chr22.hg19:g.18910658C>A	ENSP00000349577:p.Lys234Asn	0					PRODH_ENST00000420436.1_Missense_Mutation_p.K126N|PRODH_ENST00000334029.2_Missense_Mutation_p.K126N	p.K234N	NM_016335.4	NP_057419	1	2	3	2.017290	O43272	PROD_HUMAN		5	967	-			A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	1	1	hg19	c.702G>T	CCDS13754.1	1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.436079	0.43224	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.54071	0.59;0.59	4.98	2.82	0.32997	4.98	2.82	0.32997	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.60160	0.971;0.987;0.987	P;D;D	0.65140	0.841;0.926;0.932	T	0.72312	-0.4331	10	0.87932	D	0	-63.2333	6.6797	0.23113	0.0:0.7574:0.0:0.2426	.	150;234;126	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	234;27;75	ENSP00000349577:K234N;ENSP00000396806:K75N	ENSP00000334726:K126N	K	-	3	2	2	PRODH	17290658	17290658	0.998000	0.40836	1.000000	0.80357	0.145000	0.21501	0.497000	0.22514	0.589000	0.29677	0.550000	0.68814	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_016335			105	105		474	468	1		1	1		0	0	129	0		1	2.276723e-01	0	5	0	0	0	105	474
DGCR2	9993	broad.mit.edu	37	22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	434					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642																																						ENST00000263196.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1300-1302)aCg>aTg		DiGeorge syndrome critical region gene 2							112.0	89.0	97.0					22																	19028666		2203	4300	6503	SO:0001583	missense	9993	2	121408	32				g.chr22:19028666G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1301C>T	chr22.hg19:g.19028666G>A	ENSP00000263196:p.Thr434Met	0					DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	p.T434M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	1	2	3	2.017290	P98153	IDD_HUMAN		9	1548	-	Colorectal(54;0.0993)		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	1	1	hg19	c.1301C>T	CCDS33598.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790750	0.90367	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97161	0.84;-4.27	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.044331	0.85682	D	0.000000	D	0.98108	0.9376	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	D	0.97900	1.0302	10	0.48119	T	0.1	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	390;434	B7Z3T5;P98153	.;IDD_HUMAN	M	393;434	ENSP00000440062:T393M;ENSP00000263196:T434M	ENSP00000263196:T434M	T	-	2	0	0	DGCR2	17408666	17408666	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	7.890000	0.87313	2.837000	0.97791	0.655000	0.94253	ACG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.402958	1	0.170000	NM_005137			65	64		297	291	1		1	1		0	0	63	0		1	1	0	86	0	188	0	65	297
DGCR2	9993	broad.mit.edu	37	22	19076975	19076975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000263196.7	-	2	355	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000545799.1_Silent_p.A36A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622																																						ENST00000263196.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(106-108)gcG>gcA		DiGeorge syndrome critical region gene 2							72.0	57.0	62.0					22																	19076975		2203	4300	6503	SO:0001819	synonymous_variant	9993	1	121400	28				g.chr22:19076975C>T	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.108G>A	chr22.hg19:g.19076975C>T		0					DGCR2_ENST00000545799.1_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron	p.A36A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	1	2	3	2.017290	P98153	IDD_HUMAN		2	355	-	Colorectal(54;0.0993)		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	1	1	hg19	c.108G>A	CCDS33598.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_005137			66	63		235	227	1		1	1		0	0	61	0		1	1	0	50	0	111	0	66	235
TSSK2	23617	broad.mit.edu	37	22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592																																						ENST00000399635.2	1.000000	0.810000	1	9.200000e-01	0.990000	0.974428	0.990000	1.000000																										0				11						c.(538-540)Gca>Aca		testis-specific serine kinase 2							99.0	96.0	97.0					22																	19119450		2203	4300	6503	SO:0001583	missense	23617	0	0					g.chr22:19119450G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.538G>A	chr22.hg19:g.19119450G>A	ENSP00000382544:p.Ala180Thr	0					DGCR14_ENST00000252137.6_3'UTR	p.A180T	NM_053006.4	NP_443732.3	1	2	3	2.017290	Q96PF2	TSSK2_HUMAN		1	1130	+	Colorectal(54;0.0993)		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	1	1	hg19	c.538G>A	CCDS13755.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241807	0.58995	.	.	ENSG00000206203	ENST00000399635	T	0.64991	-0.13	5.34	5.34	0.76211	5.34	5.34	0.76211	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	0.000140	T	0.75671	0.3881	L	0.53780	1.695	0.39311	D	0.96508	D	0.89917	1.0	D	0.85130	0.997	T	0.75204	-0.3400	10	0.39692	T	0.17	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	180	Q96PF2	TSSK2_HUMAN	T	180	ENSP00000382544:A180T	ENSP00000382544:A180T	A	+	1	0	0	TSSK2	17499450	17499450	0.322000	0.24634	0.088000	0.20740	0.068000	0.16541	2.742000	0.47434	2.487000	0.83934	0.655000	0.94253	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1	0	0	0		22	2	2	1		1	1	106		106	105	1	2.060000	-16.213640	1	0.170000				62	61		645	638	0		1	0		1	0	106	0		9.999983e-01	2.256458e-02	0	0	0	3	0	62	645
TSSK2	23617	broad.mit.edu	37	22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	183	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597																																						ENST00000399635.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(547-549)Gcc>Acc		testis-specific serine kinase 2							92.0	92.0	92.0					22																	19119459		2203	4300	6503	SO:0001583	missense	23617	0	0					g.chr22:19119459G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.547G>A	chr22.hg19:g.19119459G>A	ENSP00000382544:p.Ala183Thr	0					DGCR14_ENST00000252137.6_3'UTR	p.A183T	NM_053006.4	NP_443732.3	1	2	3	2.017290	Q96PF2	TSSK2_HUMAN		1	1139	+	Colorectal(54;0.0993)		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	1	1	hg19	c.547G>A	CCDS13755.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120288	0.77323	.	.	ENSG00000206203	ENST00000399635	D	0.92099	-2.97	5.34	5.34	0.76211	5.34	5.34	0.76211	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	0.000140	D	0.97567	0.9203	H	0.96662	3.86	0.44309	D	0.997186	D	0.76494	0.999	D	0.78314	0.991	D	0.98911	1.0780	10	0.87932	D	0	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	183	Q96PF2	TSSK2_HUMAN	T	183	ENSP00000382544:A183T	ENSP00000382544:A183T	A	+	1	0	0	TSSK2	17499459	17499459	1.000000	0.71417	0.978000	0.43139	0.764000	0.43329	5.266000	0.65525	2.487000	0.83934	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1	1	0	0		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				127	126		574	567	1		1	0		0	0	110	0		1	8.755459e-02	0	0	0	3	0	127	574
SLC25A1	6576	broad.mit.edu	37	22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	301					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602																																						ENST00000215882.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(901-903)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1							99.0	96.0	97.0					22																	19163678		2203	4300	6503	SO:0001583	missense	6576	0	0					g.chr22:19163678C>T	U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.901G>A	chr22.hg19:g.19163678C>T	ENSP00000215882:p.Val301Met	0					SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M|SLC25A1_ENST00000461267.1_5'Flank	p.V301M	NM_005984.3	NP_005975.1	1	2	3	2.017290	P53007	TXTP_HUMAN		9	1057	-	Colorectal(54;0.0993)	all_lung(157;9.94e-09)	A8K8E8|Q9BSK6	Missense_Mutation	SNP	ENST00000215882.5	1	1	hg19	c.901G>A	CCDS13758.1	1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79141	-1.24;-1.24	5.12	5.12	0.69794	5.12	5.12	0.69794	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	N	0.03294	-0.36	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25987	0.065;0.065	T	0.57802	-0.7748	10	0.02654	T	1	-17.2283	18.7549	0.91828	0.0:1.0:0.0:0.0	.	308;301	D9HTE9;P53007	.;TXTP_HUMAN	M	301;198	ENSP00000215882:V301M;ENSP00000401480:V198M	ENSP00000215882:V301M	V	-	1	0	0	SLC25A1	17543678	17543678	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.596000	0.82721	2.661000	0.90470	0.561000	0.74099	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_005984			93	92		506	498	1		1	1		0	0	119	0		1	1	0	111	0	294	0	93	506
CLTCL1	8218	broad.mit.edu	37	22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	247	Globular terminal domain.|WD40-like repeat 5.				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)			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)					ACATCTACTGCTTTCTTTACA	0.443			T	?	ALCL																																	ENST00000263200.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q11.21	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""				L	L	?		ALCL		0				49						c.(739-741)Gca>Aca		clathrin, heavy chain-like 1							208.0	205.0	206.0					22																	19226854		1900	4121	6021	SO:0001583	missense	8218	0	0					g.chr22:19226854C>T		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.739G>A	chr22.hg19:g.19226854C>T	ENSP00000445677:p.Ala247Thr	0					CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	p.A247T	NM_007098.3	NP_009029.3	1	2	3	2.017290	P53675	CLH2_HUMAN		5	811	-	Colorectal(54;0.0993)		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	1	1	hg19	c.739G>A	CCDS46662.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239292	0.39598	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23147	1.92;1.92;1.92	3.91	1.72	0.24424	3.91	1.72	0.24424	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.235741	0.34411	N	0.003991	T	0.21590	0.0520	L	0.49571	1.57	0.58432	D	0.999993	B;B	0.12013	0.002;0.005	B;B	0.22880	0.035;0.042	T	0.04885	-1.0920	10	0.34782	T	0.22	-3.3688	8.444	0.32830	0.0:0.7569:0.1558:0.0873	.	247;247	P53675-2;P53675	.;CLH2_HUMAN	T	247	ENSP00000439662:A247T;ENSP00000445677:A247T;ENSP00000441158:A247T	ENSP00000445677:A247T	A	-	1	0	0	CLTCL1	17606854	17606854	1.000000	0.71417	0.914000	0.36105	0.626000	0.37791	4.046000	0.57376	0.286000	0.22352	0.591000	0.81541	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	0	1		2	2	2	1		1	0	202		202	197	1	2.060000	-20.000000	1	0.170000	NM_007098			165	164		767	751	1		1	1		1	0	202	0		1	5.522177e-01	0	2	0	8	0	165	767
MRPL40	64976	broad.mit.edu	37	22	19422398	19422398	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19422398A>C	ENST00000333130.3	+	3	930	c.277A>C	c.(277-279)Aag>Cag	p.K93Q	HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	93					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TACCCCTCTAAAGTTCTTGGA	0.403																																						ENST00000333130.3	1.000000	0.260000	6.300000e-01	3.400000e-01	0.450000	0.508870	0.450000	0.430000																										0				2						c.(277-279)Aag>Cag		mitochondrial ribosomal protein L40							76.0	82.0	80.0					22																	19422398		2203	4300	6503	SO:0001583	missense	64976	0	0					g.chr22:19422398A>C	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.277A>C	chr22.hg19:g.19422398A>C	ENSP00000333401:p.Lys93Gln	0					MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	p.K93Q	NM_003776.2	NP_003767.2	1	2	3	2.017290	Q9NQ50	RM40_HUMAN		3	930	+	Colorectal(54;0.0993)		B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	1	1	hg19	c.277A>C	CCDS13760.1	0	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955592	0.34471	.	.	ENSG00000185608	ENST00000333130	T	0.46063	0.88	4.59	3.56	0.40772	4.59	3.56	0.40772	.	0.159814	0.53938	D	0.000042	T	0.40909	0.1136	M	0.73430	2.235	0.48632	D	0.999688	B	0.12630	0.006	B	0.16722	0.016	T	0.35871	-0.9771	10	0.54805	T	0.06	-13.9279	7.116	0.25416	0.7748:0.1472:0.078:0.0	.	93	Q9NQ50	RM40_HUMAN	Q	93	ENSP00000333401:K93Q	ENSP00000333401:K93Q	K	+	1	0	0	MRPL40	17802398	17802398	0.999000	0.42202	0.543000	0.28128	0.842000	0.47809	4.238000	0.58688	0.906000	0.36621	0.460000	0.39030	AAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-15.791400	1	0.170000	NM_003776			16	16		425	422	0		1	1		0	0	98	0		9.999321e-01	9.985132e-01	0	12	0	273	0	16	425
UFD1L	7353	broad.mit.edu	37	22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.10	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	74					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522																																						ENST00000263202.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(220-222)tCg>tTg		ubiquitin fusion degradation 1 like (yeast)							109.0	88.0	95.0					22																	19459280		2203	4300	6503	SO:0001583	missense	7353	3	121412	34				g.chr22:19459280G>A	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.221C>T	chr22.hg19:g.19459280G>A	ENSP00000263202:p.Ser74Leu	0					UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR	p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	1	2	3	2.017290	Q92890	UFD1_HUMAN		4	350	-	Colorectal(54;0.0993)		A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	1	1	hg19	c.221C>T	CCDS13761.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986677	0.74589	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46157	1.445	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.17722	0.019;0.007;0.007	T	0.14254	-1.0479	10	0.33940	T	0.23	.	19.7254	0.96162	0.0:0.0:1.0:0.0	.	74;74;74	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	L	74;63;74;74;63;69;10	ENSP00000263202:S74L;ENSP00000354079:S63L;ENSP00000382439:S74L;ENSP00000406680:S63L;ENSP00000418390:S69L;ENSP00000418295:S10L	ENSP00000263202:S74L	S	-	2	0	0	UFD1L	17839280	17839280	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	9.476000	0.97823	2.732000	0.93576	0.650000	0.86243	TCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-4.192882	1	0.170000				78	75		267	259	1		1	1		0	0	70	0		1	1	0	96	0	370	0	78	267
SEPT5	5413	broad.mit.edu	37	22	19707735	19707735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000455784.2	+	5	461	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000406395.1_Silent_p.F112F|SEPT5_ENST00000438754.2_Silent_p.F121F|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	112	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGCCGGGATTCGGGGACGCTG	0.592																																						ENST00000455784.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				2						c.(334-336)ttC>ttT		septin 5							110.0	91.0	97.0					22																	19707735		2202	4300	6502	SO:0001819	synonymous_variant	5413	0	0					g.chr22:19707735C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.336C>T	chr22.hg19:g.19707735C>T		0					SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000438754.2_Silent_p.F121F|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Silent_p.F112F	p.F112F	NM_002688.5	NP_002679.2	1	2	3	2.017290	Q99719	SEPT5_HUMAN		5	461	+	Colorectal(54;0.0993)		O15251|Q96MY5	Silent	SNP	ENST00000455784.2	1	1	hg19	c.336C>T	CCDS13764.1	1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078448	0.07184	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	-1.62	0.08372	3.89	-1.62	0.08372	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.162	0.37028	0.0:0.2228:0.0:0.7772	.	.	.	.	W	9	.	.	R	+	1	2	2	SEPT5	18087735	18087735	0.199000	0.23386	0.544000	0.28141	0.106000	0.19336	-0.505000	0.06367	-0.093000	0.12396	0.455000	0.32223	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.343531	1	0.170000	NM_002688			31	31		170	166	1		1	1		0	0	38	0		1	9.986236e-01	0	4	0	55	0	31	170
SEPT5	5413	broad.mit.edu	37	22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T	rs201668611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000455784.2	+	7	627	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R177W|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	168	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGCAGGCTGCGGCCAGTGGA	0.607																																						ENST00000455784.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(502-504)Cgg>Tgg		septin 5							52.0	43.0	46.0					22																	19708076		2203	4300	6503	SO:0001583	missense	5413	0	0					g.chr22:19708076C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.502C>T	chr22.hg19:g.19708076C>T	ENSP00000391311:p.Arg168Trp	0					SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R177W|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W	p.R168W	NM_002688.5	NP_002679.2	1	2	3	2.017290	Q99719	SEPT5_HUMAN		7	627	+	Colorectal(54;0.0993)		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	1	1	hg19	c.502C>T	CCDS13764.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.99	2.102444	0.37145	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	2.97	1.89	0.25635	2.97	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.95712	3.71	0.80722	D	1	P	0.43094	0.799	P	0.49332	0.607	T	0.72090	-0.4395	10	0.87932	D	0	.	7.2471	0.26127	0.4087:0.453:0.1383:0.0	.	168	Q99719	SEPT5_HUMAN	W	168;168;139;121;206;177;177;121	ENSP00000391311:R168W;ENSP00000384535:R168W;ENSP00000408678:R121W;ENSP00000414488:R206W;ENSP00000372515:R177W;ENSP00000394541:R177W;ENSP00000378541:R121W	ENSP00000372515:R177W	R	+	1	2	2	SEPT5	18088076	18088076	0.098000	0.21812	0.999000	0.59377	0.695000	0.40330	0.445000	0.21677	0.743000	0.32719	0.313000	0.20887	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-4.014655	1	0.170000	NM_002688			71	69		250	248	1		1	1		0	0	68	0		1	9.998594e-01	0	5	0	44	0	71	250
SEPT5	5413	broad.mit.edu	37	22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000455784.2	+	9	861	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I|SEPT5_ENST00000438754.2_Missense_Mutation_p.V255I|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	246	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCCTTCGCCGTTATAGGCAG	0.637																																						ENST00000455784.2	1.000000	0.400000	8.400000e-01	5.000000e-01	0.630000	0.669087	0.630000	0.600000																										0				2						c.(736-738)Gtt>Att		septin 5							39.0	47.0	44.0					22																	19709181		2203	4299	6502	SO:0001583	missense	5413	0	0					g.chr22:19709181G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.736G>A	chr22.hg19:g.19709181G>A	ENSP00000391311:p.Val246Ile	0					SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000438754.2_Missense_Mutation_p.V255I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I	p.V246I	NM_002688.5	NP_002679.2	1	2	3	2.017290	Q99719	SEPT5_HUMAN		9	861	+	Colorectal(54;0.0993)		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	1	1	hg19	c.736G>A	CCDS13764.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.248348	0.95305	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.92	2.9	0.33743	3.92	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	L	0.58669	1.825	0.58432	D	0.999995	P	0.51147	0.942	P	0.60068	0.868	T	0.61476	-0.7055	10	0.62326	D	0.03	.	11.7634	0.51916	0.0873:0.0:0.9127:0.0	.	246	Q99719	SEPT5_HUMAN	I	246;246;199;284;255;255	ENSP00000391311:V246I;ENSP00000384535:V246I;ENSP00000408678:V199I;ENSP00000414488:V284I;ENSP00000372515:V255I;ENSP00000394541:V255I	ENSP00000372515:V255I	V	+	1	0	0	SEPT5	18089181	18089181	1.000000	0.71417	0.008000	0.14137	0.367000	0.29736	9.496000	0.97967	1.011000	0.39340	0.478000	0.44815	GTT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-5.307044	1	0.170000	NM_002688			22	22		405	396	0		1	1		0	0	62	0		9.999985e-01	7.081752e-01	0	2	0	45	0	22	405
SEPT5	5413	broad.mit.edu	37	22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000455784.2	+	10	975	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V|SEPT5_ENST00000438754.2_Missense_Mutation_p.A289V|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	284	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGAAGCTGCGCAACATGCT	0.642																																						ENST00000455784.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(850-852)Cgc>Tgc		septin 5							62.0	58.0	60.0					22																	19709380		2203	4299	6502	SO:0001583	missense	5413	3	121310	34				g.chr22:19709380C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.850C>T	chr22.hg19:g.19709380C>T	ENSP00000391311:p.Arg284Cys	0					SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000438754.2_Missense_Mutation_p.A289V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V	p.R284C	NM_002688.5	NP_002679.2	1	2	3	2.017290	Q99719	SEPT5_HUMAN		10	975	+	Colorectal(54;0.0993)		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	1	1	hg19	c.850C>T	CCDS13764.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627026|4.627026	0.87560|0.87560	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.51325|0.60299	0.71;0.71|0.2;0.2;0.2	3.82|3.82	0.147|0.147	0.14838|0.14838	3.82|3.82	0.147|0.147	0.14838|0.14838	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.96805|0.96805	3.885|3.885	0.23720|0.23720	N|N	0.997024|0.997024	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74740|0.74740	-0.3563|-0.3563	7|10	0.54805|0.87932	T|D	0.06|0	.|.	12.3196|12.3196	0.54977|0.54977	0.5861:0.4139:0.0:0.0|0.5861:0.4139:0.0:0.0	.|.	.|284	.|Q99719	.|SEPT5_HUMAN	V|C	280;289|284;237;293	ENSP00000384535:A280V;ENSP00000394541:A289V|ENSP00000391311:R284C;ENSP00000408678:R237C;ENSP00000372515:R293C	ENSP00000384535:A280V|ENSP00000372515:R293C	A|R	+|+	2|1	0|0	0|0	SEPT5|SEPT5	18089380|18089380	18089380|18089380	0.999000|0.999000	0.42202|0.42202	0.780000|0.780000	0.31762|0.31762	0.991000|0.991000	0.79684|0.79684	0.891000|0.891000	0.28309|0.28309	0.026000|0.026000	0.15269|0.15269	0.478000|0.478000	0.44815|0.44815	GCG|CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_002688			79	76		284	280	1		1	1		0	0	62	0		1	9.997648e-01	0	2	0	45	0	79	284
C22orf29	79680	broad.mit.edu	37	22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	303	Pro-rich.				mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597																																						ENST00000405640.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(907-909)Ctg>Atg		chromosome 22 open reading frame 29							56.0	54.0	54.0					22																	19838878		2203	4300	6503	SO:0001583	missense	79680	0	0					g.chr22:19838878G>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.907C>A	chr22.hg19:g.19838878G>T	ENSP00000384924:p.Leu303Met	0					GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000460402.1_Intron	p.L303M			1	2	3	2.017290	Q7L3V2	BOP_HUMAN		2	1575	-	Colorectal(54;0.0993)		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	1	1	hg19	c.907C>A	CCDS13769.1	1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456317	0.26161	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26223	1.75;1.75;1.75	3.8	-1.02	0.10135	3.8	-1.02	0.10135	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.11084	-1.0602	9	0.62326	D	0.03	.	1.3263	0.02126	0.2023:0.1685:0.4561:0.1731	.	303	Q7L3V2	CV029_HUMAN	M	303	ENSP00000386111:L303M;ENSP00000330596:L303M;ENSP00000384924:L303M	ENSP00000330596:L303M	L	-	1	2	2	C22orf29	18218878	18218878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.058000	0.13177	0.650000	0.86243	CTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_024627			51	51		219	212	1		1	1		0	0	53	0		1	9.872277e-01	0	8	0	24	0	51	219
C22orf29	79680	broad.mit.edu	37	22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	112					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622																																						ENST00000405640.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(334-336)tgG>tgA		chromosome 22 open reading frame 29							56.0	66.0	63.0					22																	19839449		2203	4300	6503	SO:0001587	stop_gained	79680	0	0					g.chr22:19839449C>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.336G>A	chr22.hg19:g.19839449C>T	ENSP00000384924:p.Trp112*	0					GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000460402.1_Intron	p.W112*			1	2	3	2.017290	Q7L3V2	BOP_HUMAN		2	1004	-	Colorectal(54;0.0993)		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Nonsense_Mutation	SNP	ENST00000405640.1	0	1	hg19	c.336G>A	CCDS13769.1	1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193545	0.58017	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.35	-0.0897	0.13667	3.35	-0.0897	0.13667	.	0.286677	0.17698	U	0.165025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.2451	0.06794	0.0:0.5045:0.2252:0.2703	.	.	.	.	X	112	.	ENSP00000330596:W112X	W	-	3	0	0	C22orf29	18219449	18219449	0.002000	0.14202	0.080000	0.20451	0.026000	0.11368	0.006000	0.13152	0.059000	0.16252	0.591000	0.81541	TGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	1	0	1		2	2	2	0		0	0	102		102	98	1	2.060000	-20.000000	1	0.170000	NM_024627			95	93		453	444	0		1	1		0	0	102	0		1	8.821477e-01	0	4	0	16	0	95	453
TXNRD2	10587	broad.mit.edu	37	22	19868151	19868151	+	Silent	SNP	G	G	A	rs544242322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400521.1	-	13	1182	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y|TXNRD2_ENST00000535882.1_Silent_p.Y391Y	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	392					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)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACATTGTCGTAGTCCATCA	0.622																																						ENST00000400521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1174-1176)taC>taT		thioredoxin reductase 2							44.0	52.0	49.0					22																	19868151		2161	4258	6419	SO:0001819	synonymous_variant	10587	2	121102	34				g.chr22:19868151G>A	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.1176C>T	chr22.hg19:g.19868151G>A		0					TXNRD2_ENST00000535882.1_Silent_p.Y391Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y	p.Y392Y	NM_006440.3	NP_006431.2	1	2	3	2.017290	Q9NNW7	TRXR2_HUMAN		13	1182	-	Colorectal(54;0.0993)		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	1	1	hg19	c.1176C>T	CCDS42981.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_006440			59	59		213	212	1		1	1		0	0	40	0		1	9.999996e-01	0	15	0	68	0	59	213
TXNRD2	10587	broad.mit.edu	37	22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400521.1	-	12	1049	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	348					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)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACAGAGGTGGCTTCCCGGGA	0.627																																						ENST00000400521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1042-1044)gCc>gTc		thioredoxin reductase 2							106.0	123.0	118.0					22																	19870891		2042	4195	6237	SO:0001583	missense	10587	0	0					g.chr22:19870891G>A	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.1043C>T	chr22.hg19:g.19870891G>A	ENSP00000383365:p.Ala348Val	0					TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V	p.A348V	NM_006440.3	NP_006431.2	1	2	3	2.017290	Q9NNW7	TRXR2_HUMAN		12	1049	-	Colorectal(54;0.0993)		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	1	1	hg19	c.1043C>T	CCDS42981.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586106	0.28268	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.07	4.06	0.47325	5.07	4.06	0.47325	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538685	0.19402	N	0.115146	T	0.42877	0.1222	L	0.45422	1.42	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.37091	0.241;0.241	T	0.41431	-0.9509	10	0.56958	D	0.05	-20.6423	18.7819	0.91937	0.0:0.1189:0.881:0.0	.	348;347	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	318;348;348;325;252;347;347;318	ENSP00000383362:A318V;ENSP00000383365:A348V;ENSP00000383369:A325V;ENSP00000383363:A347V;ENSP00000439314:A347V;ENSP00000439570:A318V	ENSP00000383362:A318V	A	-	2	0	0	TXNRD2	18250891	18250891	1.000000	0.71417	0.637000	0.29366	0.091000	0.18340	3.776000	0.55356	0.652000	0.30806	-1.255000	0.01485	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	0	0	1		2	2	2	0		0	0	135		135	132	1	2.060000	-20.000000	1	0.170000	NM_006440			134	132		490	483	1		1	1		0	0	135	0		1	9.999999e-01	0	21	0	63	0	134	490
TXNRD2	10587	broad.mit.edu	37	22	19882713	19882713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19882713G>T	ENST00000334363.9	-	12	960	c.960C>A	c.(958-960)atC>atA	p.I320I	TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000535882.1_Intron	NM_001282512.1	NP_001269441.1	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					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)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GACACGCAGAGATGCAAGGTG	0.597																																						ENST00000334363.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				30						c.(958-960)atC>atA		thioredoxin reductase 2							68.0	62.0	64.0					22																	19882713		876	1991	2867	SO:0001819	synonymous_variant	10587	0	0					g.chr22:19882713G>T	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	ENST00000334363.9:c.960C>A	chr22.hg19:g.19882713G>T		0					TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400518.1_Intron	p.I320I	NM_001282512.1	NP_001269441.1	1	2	3	2.017290	Q9NNW7	TRXR2_HUMAN		12	960	-	Colorectal(54;0.0993)		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000334363.9	1	1	hg19	c.960C>A		1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TXNRD2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006440			38	38		205	199	1		1	0		0	0	48	0		1	6.853286e-02	0	0	0	3	0	38	205
ARVCF	421	broad.mit.edu	37	22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	643					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577																																						ENST00000263207.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1927-1929)Cta>Ata		armadillo repeat gene deleted in velocardiofacial syndrome							163.0	115.0	131.0					22																	19963242		2202	4300	6502	SO:0001583	missense	421	0	0					g.chr22:19963242G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1927C>A	chr22.hg19:g.19963242G>T	ENSP00000263207:p.Leu643Ile	0					ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I	p.L643I	NM_001670.2	NP_001661.1	1	2	3	2.017290	O00192	ARVC_HUMAN		11	2218	-	Colorectal(54;0.0993)		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	1	1	hg19	c.1927C>A	CCDS13771.1	1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878517	0.17395	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.74	1.44	0.22558	4.74	1.44	0.22558	Armadillo-type fold (1);	0.152006	0.43747	D	0.000521	T	0.52008	0.1708	N	0.24115	0.695	0.48087	D	0.999584	B;P	0.38551	0.119;0.636	B;B	0.31245	0.109;0.126	T	0.38436	-0.9661	9	.	.	.	-11.7534	8.7502	0.34611	0.2567:0.0:0.7433:0.0	.	643;159	O00192;E7EV58	ARVC_HUMAN;.	I	643;580;580;574;637	ENSP00000263207:L643I;ENSP00000342042:L580I;ENSP00000384341:L580I;ENSP00000384732:L574I;ENSP00000385444:L637I	.	L	-	1	2	2	ARVCF	18343242	18343242	0.925000	0.31364	0.988000	0.46212	0.963000	0.63663	1.335000	0.33839	0.305000	0.22832	0.563000	0.77884	CTA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001670			46	46		207	203	1		1	1		0	0	76	0		1	9.945912e-01	0	5	0	34	0	46	207
ARVCF	421	broad.mit.edu	37	22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	594					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667																																						ENST00000263207.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				13						c.(1780-1782)Gag>Tag		armadillo repeat gene deleted in velocardiofacial syndrome							51.0	58.0	56.0					22																	19965028		2203	4300	6503	SO:0001587	stop_gained	421	0	0					g.chr22:19965028C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1780G>T	chr22.hg19:g.19965028C>A	ENSP00000263207:p.Glu594*	0					ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	p.E594*	NM_001670.2	NP_001661.1	1	2	3	2.017290	O00192	ARVC_HUMAN		9	2071	-	Colorectal(54;0.0993)		B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	0	1	hg19	c.1780G>T	CCDS13771.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.382237	0.98786	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	1.9	0.25705	4.05	1.9	0.25705	.	0.159506	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.541	8.6051	0.33769	0.1523:0.7647:0.0:0.083	.	.	.	.	X	594;531;531;531;594	.	.	E	-	1	0	0	ARVCF	18345028	18345028	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	5.825000	0.69286	0.638000	0.30545	0.563000	0.77884	GAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	0	0	1		19	3	2	1		1	1	103		103	101	1	2.060000	-20.000000	1	0.170000	NM_001670			75	75		509	502	0		1	0		1	0	103	0		1	6.915431e-01	0	0	0	27	0	75	509
ARVCF	421	broad.mit.edu	37	22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	130					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612																																						ENST00000263207.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(388-390)aCg>aTg		armadillo repeat gene deleted in velocardiofacial syndrome							31.0	37.0	35.0					22																	19969241		2190	4262	6452	SO:0001583	missense	421	3	120862	33				g.chr22:19969241G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.389C>T	chr22.hg19:g.19969241G>A	ENSP00000263207:p.Thr130Met	0					ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M	p.T130M	NM_001670.2	NP_001661.1	1	2	3	2.017290	O00192	ARVC_HUMAN		5	680	-	Colorectal(54;0.0993)		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	1	1	hg19	c.389C>T	CCDS13771.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318548	0.81469	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.1	4.1	0.47936	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.54210	0.745	T	0.47548	-0.9109	9	.	.	.	-17.9505	16.9177	0.86155	0.0:0.0:1.0:0.0	.	130	O00192	ARVC_HUMAN	M	130;67;67;67;130	ENSP00000263207:T130M;ENSP00000342042:T67M;ENSP00000384341:T67M;ENSP00000384732:T67M;ENSP00000385444:T130M	.	T	-	2	0	0	ARVCF	18349241	18349241	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	9.227000	0.95236	2.278000	0.76064	0.551000	0.68910	ACG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_001670			77	76		302	291	1		1	1		0	0	62	0		1	7.725398e-01	0	2	0	11	0	77	302
DGCR8	54487	broad.mit.edu	37	22	20073696	20073696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_ENST00000407755.1_Silent_p.Y70Y|DGCR8_ENST00000383024.2_Silent_p.Y70Y|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				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)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602																																						ENST00000351989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(208-210)taC>taT		DGCR8 microprocessor complex subunit							71.0	74.0	73.0					22																	20073696		2203	4300	6503	SO:0001819	synonymous_variant	54487	1	121412	29				g.chr22:20073696C>T	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.210C>T	chr22.hg19:g.20073696C>T		0					MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Silent_p.Y70Y|DGCR8_ENST00000383024.2_Silent_p.Y70Y|MIR1306_ENST00000408439.1_RNA	p.Y70Y	NM_022720.6	NP_073557.3	1	2	3	2.017290	Q8WYQ5	DGCR8_HUMAN		2	639	+	Colorectal(54;0.0993)		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	1	1	hg19	c.210C>T	CCDS13773.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				105	104		433	427	1		1	0		0	0	89	0		1	9.609011e-01	0	0	0	24	0	105	433
DGCR8	54487	broad.mit.edu	37	22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L|DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				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)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527																																						ENST00000351989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(847-849)cCg>cTg		DGCR8 microprocessor complex subunit							148.0	111.0	124.0					22																	20074812		2203	4300	6503	SO:0001583	missense	54487	0	0					g.chr22:20074812C>T	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.848C>T	chr22.hg19:g.20074812C>T	ENSP00000263209:p.Pro283Leu	0					MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L|DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|MIR1306_ENST00000408439.1_RNA	p.P283L	NM_022720.6	NP_073557.3	1	2	3	2.017290	Q8WYQ5	DGCR8_HUMAN		3	1277	+	Colorectal(54;0.0993)		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	1	1	hg19	c.848C>T	CCDS13773.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.604141	0.96626	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.54071	0.73;0.59;0.59	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.57009	0.811;0.652	T	0.71130	-0.4682	10	0.87932	D	0	-6.7014	20.1743	0.98175	0.0:1.0:0.0:0.0	.	283;283	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	283	ENSP00000263209:P283L;ENSP00000372488:P283L;ENSP00000384726:P283L	ENSP00000263209:P283L	P	+	2	0	0	DGCR8	18454812	18454812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.873000	0.98535	0.561000	0.74099	CCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				51	51		249	245	1		1	1		0	0	70	0		1	9.930172e-01	0	7	0	33	0	51	249
DGCR8	54487	broad.mit.edu	37	22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	656	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567																																						ENST00000351989.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999869	0.990000	1.000000																										0				22						c.(1966-1968)gCg>gTg		DGCR8 microprocessor complex subunit							128.0	120.0	123.0					22																	20094192		2203	4300	6503	SO:0001583	missense	54487	0	0					g.chr22:20094192C>T	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.1967C>T	chr22.hg19:g.20094192C>T	ENSP00000263209:p.Ala656Val	0					DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	p.A656V	NM_022720.6	NP_073557.3	1	2	3	2.017290	Q8WYQ5	DGCR8_HUMAN		11	2396	+	Colorectal(54;0.0993)		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	1	1	hg19	c.1967C>T	CCDS13773.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695684	0.88830	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	5.55	5.55	0.83447	Double-stranded RNA-binding (2);	0.048412	0.85682	D	0.000000	T	0.56366	0.1980	N	0.08118	0	0.52501	D	0.999953	B;P	0.37663	0.44;0.604	B;B	0.31101	0.124;0.052	T	0.65105	-0.6249	10	0.66056	D	0.02	-14.3867	18.2506	0.90002	0.0:1.0:0.0:0.0	.	623;656	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	656;623;623	ENSP00000263209:A656V;ENSP00000372488:A623V;ENSP00000384726:A623V	ENSP00000263209:A656V	A	+	2	0	0	DGCR8	18474192	18474192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	2.592000	0.87571	0.591000	0.81541	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.075971	1	0.170000				42	41		283	279	1		1	0		0	0	85	0		1	9.099044e-01	0	1	0	29	0	42	283
RANBP1	5902	broad.mit.edu	37	22	20112936	20112936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	ENST00000331821.3	+	4	518	c.416C>T	c.(415-417)gCc>gTc	p.A139V	RANBP1_ENST00000430524.1_Missense_Mutation_p.A49V|RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|SNORA77_ENST00000578179.1_RNA	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	139	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					GAGCTGCTGGCCATCCGCTTC	0.632																																						ENST00000331821.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				4						c.(415-417)gCc>gTc		RAN binding protein 1							27.0	24.0	25.0					22																	20112936		2201	4298	6499	SO:0001583	missense	5902	0	0					g.chr22:20112936C>T	D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.416C>T	chr22.hg19:g.20112936C>T	ENSP00000327583:p.Ala139Val	0					SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|RANBP1_ENST00000430524.1_Missense_Mutation_p.A49V	p.A139V	NM_002882.2	NP_002873.1	1	2	3	2.017290	P43487	RANG_HUMAN		4	518	+	Colorectal(54;0.0993)		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	0	1	hg19	c.416C>T	CCDS13775.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.727931	0.96856	.	.	ENSG00000099901	ENST00000430524;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000423859;ENST00000418705;ENST00000448394	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	5.5	5.5	0.81552	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	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	0.996;1.0;1.0	T	0.78628	-0.2130	10	0.66056	D	0.02	-26.6123	19.3923	0.94587	0.0:1.0:0.0:0.0	.	139;139;139	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	V	49;139;126;139;139;89;89;66	ENSP00000401564:A49V;ENSP00000384925:A139V;ENSP00000327583:A139V;ENSP00000395472:A139V;ENSP00000404298:A89V;ENSP00000413502:A89V;ENSP00000398300:A66V	ENSP00000327583:A139V	A	+	2	0	0	RANBP1	18492936	18492936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.629000	0.83207	2.588000	0.87417	0.585000	0.79938	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_002882			18	17		60	60	0		1	1		0	0	18	0		9.999916e-01	1	0	112	0	326	0	18	60
ZDHHC8	29801	broad.mit.edu	37	22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	513					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATCCTGGGGCAACGGGCGAC	0.721																																						ENST00000334554.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1537-1539)gCa>gTa		zinc finger, DHHC-type containing 8							25.0	28.0	27.0					22																	20130691		2198	4287	6485	SO:0001583	missense	29801	0	0					g.chr22:20130691C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1538C>T	chr22.hg19:g.20130691C>T	ENSP00000334490:p.Ala513Val	0					ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V	p.A513V	NM_013373.3	NP_037505.1	1	2	3	2.017290	Q9ULC8	ZDHC8_HUMAN		10	1679	+	Colorectal(54;0.0993)		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	1	1	hg19	c.1538C>T	CCDS13776.1	1	.	.	.	.	.	.	.	.	.	.	.	9.033	0.987662	0.18966	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72282	1.37;-0.64;1.34	4.79	-1.64	0.08318	4.79	-1.64	0.08318	.	2.240760	0.01898	N	0.039000	T	0.55210	0.1906	L	0.29908	0.895	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.002;0.008;0.001	T	0.25882	-1.0119	10	0.17832	T	0.49	.	4.9567	0.14044	0.0:0.233:0.1772:0.5898	.	421;513;513	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	513;421;513	ENSP00000334490:A513V;ENSP00000317804:A421V;ENSP00000384716:A513V	ENSP00000317804:A421V	A	+	2	0	0	ZDHHC8	18510691	18510691	0.000000	0.05858	0.025000	0.17156	0.312000	0.27988	-0.092000	0.11129	0.120000	0.18254	0.491000	0.48974	GCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	1	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-20.000000	1	0.170000	NM_013373			79	75		351	345	0		1	1		0	0	59	0		1	9.962010e-01	0	15	0	25	0	79	351
RTN4R	65078	broad.mit.edu	37	22	20230563	20230563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000043402.7	-	2	531	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	31	LRRNT.				axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTAGCATACGCAGGCACCTG	0.667																																						ENST00000043402.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(91-93)tgC>tgT		reticulon 4 receptor							24.0	23.0	23.0					22																	20230563		2191	4268	6459	SO:0001819	synonymous_variant	65078	5	120772	34				g.chr22:20230563G>A	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.93C>T	chr22.hg19:g.20230563G>A		0					RTN4R_ENST00000469601.1_5'UTR	p.C31C	NM_023004.5	NP_075380.1	1	2	3	2.017290	Q9BZR6	RTN4R_HUMAN		2	531	-	Colorectal(54;0.0993)		D3DX28	Silent	SNP	ENST00000043402.7	1	1	hg19	c.93C>T	CCDS13777.1	1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774633	0.02951	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	4.65	-9.3	0.00649	4.65	-9.3	0.00649	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	15.0807	0.72113	0.6639:0.0:0.3361:0.0	.	.	.	.	V	51;117	.	.	A	-	2	0	0	RTN4R	18610563	18610563	0.000000	0.05858	0.378000	0.26068	0.161000	0.22273	-4.388000	0.00242	-2.350000	0.00617	-2.488000	0.00195	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000				52	51		202	200	1		1	1		0	0	40	0		1	9.973377e-01	0	16	0	22	0	52	202
RIMBP3	85376	broad.mit.edu	37	22	20458364	20458364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	ENST00000426804.1	-	1	3422	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	980										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAGAGGCCCTGCTTCCCC	0.587																																						ENST00000426804.1	1.000000	0.590000	1	8.200000e-01	0.990000	0.937437	0.990000	1.000000																										0				13						c.(2938-2940)Ggc>Tgc		RIMS binding protein 3							1.0	2.0	2.0					22																	20458364		989	2429	3418	SO:0001583	missense	85376	0	0					g.chr22:20458364C>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2938G>T	chr22.hg19:g.20458364C>A	ENSP00000391564:p.Gly980Cys	0					SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	p.G980C	NM_015672.1	NP_056487.1	1	2	3	2.017290	Q9UFD9	RIM3A_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)	1	3422	-	Colorectal(54;0.0993)|Melanoma(16;0.165)		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	0	1	hg19	c.2938G>T	CCDS46665.1	1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424295	0.43020	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.31769	1.48	3.32	1.14	0.20703	3.32	1.14	0.20703	.	1.026650	0.07715	N	0.942781	T	0.47229	0.1434	M	0.62723	1.935	0.26803	N	0.96916	D	0.89917	1.0	D	0.75020	0.985	T	0.26815	-1.0092	10	0.87932	D	0	-7.5139	3.5877	0.07977	0.0:0.5385:0.2174:0.2441	.	886	Q9UFD9	RIM3A_HUMAN	C	886;980	ENSP00000391564:G980C	ENSP00000347318:G886C	G	-	1	0	0	RIMBP3	18838364	18838364	0.678000	0.27586	0.003000	0.11579	0.022000	0.10575	4.016000	0.57159	0.223000	0.20920	0.398000	0.26397	GGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	0		2	2	2	0		0	0	32		32	0	1	2.060000	-17.170430	1	0.170000	NM_015672			11	0		111	0	0			0		0	0	32	0		0	1.006452e-02	0	0	0	2	0	11	111
RIMBP3	85376	broad.mit.edu	37	22	20459530	20459530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20459530G>A	ENST00000426804.1	-	1	2256	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	591										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CGCCGGGGCCGCCTGCGCGCC	0.746																																						ENST00000426804.1	1.000000	0.670000	1	9.800000e-01	0.990000	0.970640	0.990000	1.000000																										0				13						c.(1771-1773)gCg>gTg		RIMS binding protein 3							6.0	7.0	7.0					22																	20459530		1771	3739	5510	SO:0001583	missense	85376	0	0					g.chr22:20459530G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1772C>T	chr22.hg19:g.20459530G>A	ENSP00000391564:p.Ala591Val	0						p.A591V	NM_015672.1	NP_056487.1	1	2	3	2.017290	Q9UFD9	RIM3A_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)	1	2256	-	Colorectal(54;0.0993)|Melanoma(16;0.165)		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	0	1	hg19	c.1772C>T	CCDS46665.1	1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810155	0.16537	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.14893	2.47	2.69	1.65	0.23941	2.69	1.65	0.23941	.	0.207420	0.31673	N	0.007255	T	0.10465	0.0256	L	0.34521	1.04	0.22811	N	0.998706	B	0.14805	0.011	B	0.12156	0.007	T	0.19943	-1.0290	10	0.33940	T	0.23	-5.7485	4.7487	0.13050	0.3027:0.0:0.6973:0.0	.	497	Q9UFD9	RIM3A_HUMAN	V	497;591	ENSP00000391564:A591V	ENSP00000347318:A497V	A	-	2	0	0	RIMBP3	18839530	18839530	0.300000	0.24435	0.269000	0.24586	0.131000	0.20780	0.557000	0.23454	0.691000	0.31592	0.184000	0.17185	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	1		2	2	2	0		0	0	6		6	8	1	2.060000	-18.089990	1	0.170000	NM_015672			8	8		62	60	0		1			0	0	6	0		9.896262e-01	0	0	0	0	0	0	8	62
KLHL22	84861	broad.mit.edu	37	22	20800760	20800760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	ENST00000328879.4	-	6	1665	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_ENST00000440659.2_Silent_p.N360N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	503					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCCGGCATCGTTGTTGCTGC	0.597																																						ENST00000328879.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				20						c.(1507-1509)aaC>aaT		kelch-like family member 22							86.0	70.0	76.0					22																	20800760		2203	4300	6503	SO:0001819	synonymous_variant	84861	4	121408	36				g.chr22:20800760G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1509C>T	chr22.hg19:g.20800760G>A		0					KLHL22_ENST00000440659.2_Silent_p.N360N	p.N503N	NM_032775.3	NP_116164.2	1	2	3	2.017290	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)	6	1665	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	0	1	hg19	c.1509C>T	CCDS13780.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_032775			29	28		152	152	0		1	1		0	0	37	0		1	9.999189e-01	0	22	0	59	0	29	152
KLHL22	84861	broad.mit.edu	37	22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	133					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATAATTTCTGGGATCTGCAGA	0.522																																						ENST00000328879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(397-399)Cca>Tca		kelch-like family member 22							46.0	49.0	48.0					22																	20819860		2203	4298	6501	SO:0001583	missense	84861	0	0					g.chr22:20819860G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.397C>T	chr22.hg19:g.20819860G>A	ENSP00000331682:p.Pro133Ser	0					KLHL22_ENST00000440659.2_5'UTR	p.P133S	NM_032775.3	NP_116164.2	1	2	3	2.017290	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)	4	553	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	1	1	hg19	c.397C>T	CCDS13780.1	1	.	.	.	.	.	.	.	.	.	.	G	5.913	0.352446	0.11182	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.43	5.43	0.79202	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.47093	D	0.000260	T	0.43700	0.1259	N	0.13352	0.335	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.37150	-0.9718	10	0.06494	T	0.89	.	10.2156	0.43166	0.0903:0.0:0.9097:0.0	.	133	Q53GT1	KLH22_HUMAN	S	133;56;165;133;167	ENSP00000331682:P133S;ENSP00000400095:P56S;ENSP00000403999:P165S;ENSP00000398616:P133S;ENSP00000397882:P167S	ENSP00000331682:P133S	P	-	1	0	0	KLHL22	19149860	19149860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.144000	0.58057	2.555000	0.86185	0.655000	0.94253	CCA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	0		15	4	2	1		1	1	76		76	75	1	2.060000	-3.226900	1	0.170000	NM_032775			58	58		253	249	0		1	1		1	0	76	0		1	9.818671e-01	0	7	0	41	0	58	253
KLHL22	84861	broad.mit.edu	37	22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000328879.4	-	2	365	c.209C>T	c.(208-210)gCg>gTg	p.A70V	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCGCAGGACGCAGCCAGCAG	0.552																																						ENST00000328879.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.997352	0.990000	1.000000																										0				20						c.(208-210)gCg>gTg		kelch-like family member 22							57.0	45.0	49.0					22																	20843290		2203	4300	6503	SO:0001583	missense	84861	0	0					g.chr22:20843290G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.209C>T	chr22.hg19:g.20843290G>A	ENSP00000331682:p.Ala70Val	0					KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	p.A70V	NM_032775.3	NP_116164.2	1	2	3	2.017290	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)	2	365	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	1	1	hg19	c.209C>T	CCDS13780.1	1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.041455	0.55003	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.14	5.14	0.70334	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	10	0.87932	D	0	.	16.1034	0.81203	0.0:0.0:1.0:0.0	.	70	Q53GT1	KLH22_HUMAN	V	70;102;70;104;70;102	ENSP00000331682:A70V;ENSP00000403999:A102V;ENSP00000398616:A70V;ENSP00000397882:A104V;ENSP00000409092:A70V;ENSP00000402746:A102V	ENSP00000331682:A70V	A	-	2	0	0	KLHL22	19173290	19173290	1.000000	0.71417	0.636000	0.29352	0.029000	0.11900	9.123000	0.94387	2.406000	0.81754	0.550000	0.68814	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-3.319737	1	0.170000	NM_032775			24	24		174	171	1		1	1		0	0	35	0		9.999998e-01	9.971408e-01	0	18	0	52	0	24	174
MED15	51586	broad.mit.edu	37	22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000425759.2_Missense_Mutation_p.A222S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	333	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGGCGCAAGCTCTCCCTGG	0.582																																						ENST00000263205.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(997-999)Gct>Tct		mediator complex subunit 15							193.0	181.0	185.0					22																	20921060		2203	4300	6503	SO:0001583	missense	51586	0	0					g.chr22:20921060G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.997G>T	chr22.hg19:g.20921060G>T	ENSP00000263205:p.Ala333Ser	0					MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S	p.A333S	NM_001003891.1	NP_001003891.1	1	2	3	2.017290	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)	7	1066	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	1	1	hg19	c.997G>T	CCDS33602.1	1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146195	0.21288	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T	0.44482	0.92	5.13	1.87	0.25490	5.13	1.87	0.25490	Mediator complex, subunit Med15, metazoa (1);	0.675615	0.14883	N	0.292854	T	0.30479	0.0766	L	0.49350	1.555	0.38124	D	0.937955	B;B;B;B;B;B	0.23442	0.005;0.005;0.004;0.004;0.085;0.069	B;B;B;B;B;B	0.24974	0.038;0.038;0.022;0.022;0.057;0.055	T	0.08576	-1.0715	10	0.12430	T	0.62	.	5.0251	0.14381	0.2548:0.155:0.5902:0.0	.	279;352;307;333;333;262	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	S	222;333;138;333;307;262;307;279	ENSP00000263205:A333S	ENSP00000263205:A333S	A	+	1	0	0	MED15	19251060	19251060	0.790000	0.28787	0.992000	0.48379	0.121000	0.20230	2.198000	0.42705	0.390000	0.25115	-0.136000	0.14681	GCT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	1	0	1		2	2	2	0		0	0	148		148	136	1	2.060000	-20.000000	1	0.170000	NM_015889			145	136		696	654	1		1	1		0	0	148	0		1	1	0	57	0	192	0	145	696
MED15	51586	broad.mit.edu	37	22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	564					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGGACCTGAGTAAGATGAA	0.592																																						ENST00000263205.7	1.000000	0.330000	6.300000e-01	4.000000e-01	0.490000	0.543262	0.490000	0.470000																										0				25						c.(1690-1692)Agt>Cgt		mediator complex subunit 15							112.0	118.0	116.0					22																	20937634		2203	4300	6503	SO:0001583	missense	51586	0	0					g.chr22:20937634A>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1690A>C	chr22.hg19:g.20937634A>C	ENSP00000263205:p.Ser564Arg	0					MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R	p.S564R	NM_001003891.1	NP_001003891.1	1	2	3	2.017290	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)	13	1759	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	1	1	hg19	c.1690A>C	CCDS33602.1	0	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871776	0.91587	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	Mediator complex, subunit Med15, metazoa (1);	0.121832	0.85682	N	0.000000	T	0.77805	0.4185	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.996;0.951;0.994;0.989;0.999	T	0.80374	-0.1409	9	0.87932	D	0	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	494;543;180;498;524;564	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	R	413;524;564;498;453;498;494	.	ENSP00000263205:S564R	S	+	1	0	0	MED15	19267634	19267634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.883000	0.92426	2.189000	0.69895	0.459000	0.35465	AGT	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-4.677371	1	0.170000	NM_015889			31	31		739	728	0		1	1		0	0	160	0		1	9.993798e-01	0	23	0	243	0	31	739
PI4KA	5297	broad.mit.edu	37	22	21087302	21087302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	ENST00000572273.1	-	36	4301	c.4071C>A	c.(4069-4071)ttC>ttA	p.F1357L	PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L|PI4KA_ENST00000255882.6_Missense_Mutation_p.F1415L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1357					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)			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)			TCTTATCTGAGAACATGGCGG	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000572273.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				79						c.(4069-4071)ttC>ttA		phosphatidylinositol 4-kinase, catalytic, alpha							51.0	47.0	48.0					22																	21087302		2203	4297	6500	SO:0001583	missense	5297	0	0					g.chr22:21087302G>T	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.4071C>A	chr22.hg19:g.21087302G>T	ENSP00000458238:p.Phe1357Leu	0					PI4KA_ENST00000255882.6_Missense_Mutation_p.F1415L|PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L	p.F1357L			1	2	3	2.017290	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	36	4301	-	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)	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	0	1	hg19	c.4071C>A		1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987345	0.53934	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.75938	-0.98	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.163311	0.56097	D	0.000036	T	0.47284	0.1437	N	0.01219	-0.95	0.51482	D	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.37606	T	0.19	-32.5835	12.8034	0.57598	0.075:0.0:0.925:0.0	.	1357	P42356	PI4KA_HUMAN	L	1357;167	ENSP00000402981:F167L	ENSP00000255882:F1357L	F	-	3	2	2	PI4KA	19417302	19417302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.376000	0.44292	2.606000	0.88127	0.557000	0.71058	TTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	64		64	75	1	2.060000	-20.000000	1	0.170000	NM_058004			46	26		264	157	0		1	1		0	0	64	0		1	9.998129e-01	0	11	0	65	0	46	264
PI4KA	5297	broad.mit.edu	37	22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000572273.1	-	27	3165	c.2935G>A	c.(2935-2937)Gcc>Acc	p.A979T	PI4KA_ENST00000255882.6_Missense_Mutation_p.A1037T|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	979					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)			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)			CGGTAGGGGGCGTCGGGGATG	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000572273.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				79						c.(2935-2937)Gcc>Acc		phosphatidylinositol 4-kinase, catalytic, alpha							131.0	97.0	108.0					22																	21105625		2203	4300	6503	SO:0001583	missense	5297	0	0					g.chr22:21105625C>T	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.2935G>A	chr22.hg19:g.21105625C>T	ENSP00000458238:p.Ala979Thr	0					PI4KA_ENST00000255882.6_Missense_Mutation_p.A1037T|PI4KA_ENST00000466162.1_5'Flank	p.A979T			1	2	3	2.017290	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	27	3165	-	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)	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	1	1	hg19	c.2935G>A		1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090231	0.20390	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	4.36	0.52297	5.43	4.36	0.52297	.	0.213702	0.49916	D	0.000136	T	0.11196	0.0273	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-15.003	14.7651	0.69632	0.0:0.9208:0.0:0.0792	.	979	P42356	PI4KA_HUMAN	T	979	.	ENSP00000255882:A979T	A	-	1	0	0	PI4KA	19435625	19435625	0.998000	0.40836	0.644000	0.29465	0.917000	0.54804	3.456000	0.53000	2.825000	0.97269	0.655000	0.94253	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_058004			33	32		196	193	1		1	1		0	0	63	0		1	9.999778e-01	0	21	0	82	0	33	196
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	G	A	rs369334872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	AAGTGCACTCGATTTTGCATT	0.433																																						ENST00000215727.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(535-537)tcG>tcA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)|Sulodexide(DB06271)	G	,	0,4406		0,0,2203	106.0	104.0	104.0		537,	-11.9	0.0	22		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	179/500,	21134137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3053	0	0					g.chr22:21134137G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.537G>A	chr22.hg19:g.21134137G>A		0					PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S	p.S179S	NM_000185.3	NP_000176.2	1	2	3	2.017290	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	2	820	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	1	1	hg19	c.537G>A	CCDS13783.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_000185			87	87		352	351	1		1			0	0	70	0		1	0	0	0	0	0	0	87	352
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592																																						ENST00000215727.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1429-1431)ttC>ttT		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)|Sulodexide(DB06271)						117.0	90.0	99.0					22																	21141285		2203	4300	6503	SO:0001819	synonymous_variant	3053	0	0					g.chr22:21141285C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>T	chr22.hg19:g.21141285C>T		0					PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F	p.F477F	NM_000185.3	NP_000176.2	1	2	3	2.017290	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	5	1714	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	1	1	hg19	c.1431C>T	CCDS13783.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	1	0	1		2	2	2	0		0	0	72		72	69	1	2.060000	-20.000000	1	0.170000	NM_000185			84	84		384	380	1		1	0		0	0	72	0		1	8.689168e-02	0	0	0	3	0	84	384
PI4KA	5297	broad.mit.edu	37	22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000572273.1	-	18	2278	c.2048G>A	c.(2047-2049)gGg>gAg	p.G683E	PI4KA_ENST00000255882.6_Missense_Mutation_p.G741E|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	683					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)			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)			CCCCTCCAGCCCCAGCTGCAC	0.587																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000572273.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998229	0.990000	1.000000																										0				79						c.(2047-2049)gGg>gAg		phosphatidylinositol 4-kinase, catalytic, alpha							91.0	66.0	75.0					22																	21150489		2203	4300	6503	SO:0001583	missense	5297	0	0					g.chr22:21150489C>T	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.2048G>A	chr22.hg19:g.21150489C>T	ENSP00000458238:p.Gly683Glu	0					PI4KA_ENST00000255882.6_Missense_Mutation_p.G741E|PI4KA_ENST00000466162.1_5'Flank	p.G683E			1	2	3	2.017290	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	18	2278	-	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)	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	1	1	hg19	c.2048G>A		1	.	.	.	.	.	.	.	.	.	.	C	31	5.073799	0.94000	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.87932	D	0	-24.2467	17.6482	0.88154	0.0:1.0:0.0:0.0	.	683	P42356	PI4KA_HUMAN	E	683	.	ENSP00000255882:G683E	G	-	2	0	0	PI4KA	19480489	19480489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_058004			23	22		158	155	1		1	1		0	0	35	0		9.999995e-01	9.999185e-01	0	19	0	89	0	23	158
SNAP29	9342	broad.mit.edu	37	22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A	rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	82					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532																																						ENST00000215730.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(244-246)Gcc>Acc		synaptosomal-associated protein, 29kDa		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	77.0		244	3.4	0.3	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAP29	NM_004782.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	82/259	21224631	2,13004	2203	4300	6503	SO:0001583	missense	9342	6	121412	36				g.chr22:21224631G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.244G>A	chr22.hg19:g.21224631G>A	ENSP00000215730:p.Ala82Thr	0						p.A82T	NM_004782.3	NP_004773.1	1	2	3	2.017290	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)	2	372	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)		Missense_Mutation	SNP	ENST00000215730.7	1	1	hg19	c.244G>A	CCDS13784.1	1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651895	0.29336	2.27E-4	1.16E-4	ENSG00000099940	ENST00000215730	T	0.76839	-1.05	5.58	3.37	0.38596	5.58	3.37	0.38596	Target SNARE coiled-coil domain (1);	0.328618	0.32120	N	0.006545	T	0.60625	0.2283	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.41016	-0.9532	10	0.18276	T	0.48	-14.9797	7.7116	0.28682	0.191:0.1277:0.6814:0.0	.	82	O95721	SNP29_HUMAN	T	82	ENSP00000215730:A82T	ENSP00000215730:A82T	A	+	1	0	0	SNAP29	19554631	19554631	0.017000	0.18338	0.282000	0.24776	0.226000	0.24999	0.542000	0.23222	1.357000	0.45904	0.591000	0.81541	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004782			71	68		307	297	1		1	1		0	0	89	0		1	9.999930e-01	0	31	0	46	0	71	307
SNAP29	9342	broad.mit.edu	37	22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	84					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532																																						ENST00000215730.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(250-252)Cag>Tag		synaptosomal-associated protein, 29kDa							87.0	79.0	82.0					22																	21224637		2203	4300	6503	SO:0001587	stop_gained	9342	0	0					g.chr22:21224637C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.250C>T	chr22.hg19:g.21224637C>T	ENSP00000215730:p.Gln84*	0						p.Q84*	NM_004782.3	NP_004773.1	1	2	3	2.017290	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)	2	378	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)		Nonsense_Mutation	SNP	ENST00000215730.7	0	1	hg19	c.250C>T	CCDS13784.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.344017	0.95807	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9277	19.5775	0.95450	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000215730:Q84X	Q	+	1	0	0	SNAP29	19554637	19554637	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	7.747000	0.85070	2.625000	0.88918	0.591000	0.81541	CAG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	0		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_004782			58	55		345	334	0		1	1		0	0	97	0		1	9.999745e-01	0	5	0	89	0	58	345
SNAP29	9342	broad.mit.edu	37	22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	236	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468																																						ENST00000215730.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(706-708)Cgg>Tgg		synaptosomal-associated protein, 29kDa							150.0	132.0	138.0					22																	21242053		2203	4300	6503	SO:0001583	missense	9342	3	121412	37				g.chr22:21242053C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.706C>T	chr22.hg19:g.21242053C>T	ENSP00000215730:p.Arg236Trp	0					AC007308.7_ENST00000608856.1_RNA	p.R236W	NM_004782.3	NP_004773.1	1	2	3	2.017290	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)	5	834	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)		Missense_Mutation	SNP	ENST00000215730.7	1	1	hg19	c.706C>T	CCDS13784.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.99	5.99	0.97316	5.99	5.99	0.97316	Target SNARE coiled-coil domain (3);	0.175838	0.51477	D	0.000086	D	0.84795	0.5551	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	D	0.86213	0.1626	9	0.87932	D	0	-10.08	20.0728	0.97731	0.0:1.0:0.0:0.0	.	236	O95721	SNP29_HUMAN	W	236;143	.	ENSP00000215730:R236W	R	+	1	2	2	SNAP29	19572053	19572053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	2.840000	0.97914	0.655000	0.94253	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-2.427582	0	0.170000	NM_004782			76	73		343	340	1		1	1		0	0	94	0		1	1	0	51	0	108	0	76	343
AIFM3	150209	broad.mit.edu	37	22	21330996	21330996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000440238.2_Silent_p.L363L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	363					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGTGGAGCTGGAGGAGAC	0.672																																						ENST00000399167.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999660	0.990000	1.000000																										0				21						c.(1087-1089)Ctg>Ttg		apoptosis-inducing factor, mitochondrion-associated, 3																																				SO:0001819	synonymous_variant	150209	8	121310	33				g.chr22:21330996C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1087C>T	chr22.hg19:g.21330996C>T		0					AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L363L	p.L363L	NM_144704.2	NP_653305.1	1	2	3	2.017290	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	12	1327	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	1	1	hg19	c.1087C>T	CCDS13786.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_144704			17	17		84	81	1		1	0		0	0	20	0		9.999740e-01	3.522435e-01	0	1	0	6	0	17	84
AIFM3	150209	broad.mit.edu	37	22	21335305	21335305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000399163.2_Silent_p.T594T|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000335375.5_Silent_p.T582T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.T594T|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000440238.2_Silent_p.T601T|LZTR1_ENST00000215739.8_5'Flank	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	601					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCTTACGGGGAAAGGAT	0.612																																						ENST00000399167.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1801-1803)acG>acA		apoptosis-inducing factor, mitochondrion-associated, 3							79.0	68.0	72.0					22																	21335305		2203	4300	6503	SO:0001819	synonymous_variant	150209	4	121412	35				g.chr22:21335305G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1803G>A	chr22.hg19:g.21335305G>A		0					XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000399163.2_Silent_p.T594T|LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.T594T	p.T601T	NM_144704.2	NP_653305.1	1	2	3	2.017290	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	21	2043	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	1	1	hg19	c.1803G>A	CCDS13786.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.726589	1	0.170000	NM_144704			37	35		130	128	1		1	1		0	0	34	0		1	8.155579e-01	0	4	0	9	0	37	130
LZTR1	8216	broad.mit.edu	37	22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	267					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R267H(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|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;0.195)			AGGTGGACACGCATCCCAACT	0.652																																						ENST00000215739.8	1.000000	0.680000	1	9.900000e-01	0.990000	0.972358	0.990000	1.000000																										2	Substitution - Missense(2)	p.R267H(2)	upper_aerodigestive_tract(1)|large_intestine(1)	42						c.(799-801)cGc>cAc		leucine-zipper-like transcription regulator 1							35.0	26.0	29.0					22																	21345925		2202	4292	6494	SO:0001583	missense	8216	2	120970	17				g.chr22:21345925G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.800G>A	chr22.hg19:g.21345925G>A	ENSP00000215739:p.Arg267His	0					LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H|LZTR1_ENST00000479606.1_3'UTR	p.R267H	NM_006767.3	NP_006758.2	1	2	3	2.017290	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	9	1159	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	0	1	hg19	c.800G>A	CCDS33606.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.136480	0.94517	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67698	-0.28;-0.28	5.18	5.18	0.71444	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.053822	0.85682	D	0.000000	T	0.81230	0.4779	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.74023	0.957;0.982;0.947;0.904	D	0.83501	0.0075	10	0.72032	D	0.01	-35.8024	16.1666	0.81759	0.0:0.0:1.0:0.0	.	248;226;267;226	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	226;267;248	ENSP00000215739:R267H;ENSP00000374006:R248H	ENSP00000215739:R267H	R	+	2	0	0	LZTR1	19675925	19675925	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.621000	0.83083	2.409000	0.81822	0.407000	0.27541	CGC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-14.562790	1	0.170000	NM_006767			8	8		61	58	1		1	1		0	0	12	0		9.889690e-01	9.972517e-01	0	22	0	68	0	8	61
THAP7	80764	broad.mit.edu	37	22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A	rs375087817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7_ENST00000399133.2_Missense_Mutation_p.R242W|THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	242					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|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;0.195)			TCGGCTCGCCGCTTCCAGAGT	0.657																																						ENST00000215742.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(724-726)Cgg>Tgg		THAP domain containing 7		G	TRP/ARG,TRP/ARG	2,4390		0,2,2194	15.0	16.0	16.0		724,724	-3.5	1.0	22		16	0,8546		0,0,4273	no	missense,missense	THAP7	NM_001008695.1,NM_030573.2	101,101	0,2,6467	AA,AG,GG		0.0,0.0455,0.0155	probably-damaging,probably-damaging	242/310,242/310	21354375	2,12936	2196	4273	6469	SO:0001583	missense	80764	6	121268	34				g.chr22:21354375G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.724C>T	chr22.hg19:g.21354375G>A	ENSP00000215742:p.Arg242Trp	0					THAP7-AS1_ENST00000436079.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R242W|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	p.R242W	NM_030573.2	NP_085050.2	1	2	3	2.017290	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	4	898	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	1	1	hg19	c.724C>T	CCDS13787.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679638	0.68042	4.55E-4	0.0	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97665	-4.48;-4.48	4.25	-3.45	0.04781	4.25	-3.45	0.04781	.	0.370399	0.21680	N	0.070723	D	0.94551	0.8245	N	0.14661	0.345	0.42120	D	0.991422	D	0.89917	1.0	D	0.65874	0.939	D	0.90812	0.4702	10	0.87932	D	0	-18.4205	8.6921	0.34273	0.0888:0.0:0.2028:0.7084	.	242	Q9BT49	THAP7_HUMAN	W	242	ENSP00000215742:R242W;ENSP00000382084:R242W	ENSP00000215742:R242W	R	-	1	2	2	THAP7	19684375	19684375	0.948000	0.32251	0.993000	0.49108	0.890000	0.51754	0.147000	0.16202	-0.229000	0.09854	-0.181000	0.13052	CGG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_030573			35	34		133	132	1		1	1		0	0	38	0		1	1	0	37	0	85	0	35	133
P2RX6	9127	broad.mit.edu	37	22	21380774	21380774	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000336296.2_Silent_p.R388R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|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)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCCAAGCCCGACTGGCCGAGT	0.632																																						ENST00000413302.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998980	0.990000	1.000000																										0										c.(1192-1194)cgA>cgG		purinergic receptor P2X, ligand-gated ion channel, 6							50.0	44.0	46.0					22																	21380774		2203	4292	6495	SO:0001819	synonymous_variant	9127	0	0					g.chr22:21380774A>G		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1194A>G	chr22.hg19:g.21380774A>G		0					P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000443995.3_Silent_p.R345R	p.R398R			1	2	3	2.017290	O15547	P2RX6_HUMAN		12	1342	+			F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	0	1	hg19	c.1194A>G	CCDS13788.2	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.893150	1	0.170000	NM_005446			10	10		38	37	1		1	1		0	0	12	0		9.976601e-01	5.176471e-02	0	2	0	0	0	10	38
SLC7A4	6545	broad.mit.edu	37	22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	194					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612																																						ENST00000382932.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(580-582)Ctc>Atc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						62.0	59.0	60.0					22																	21385522		2203	4300	6503	SO:0001583	missense	6545	0	0					g.chr22:21385522G>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.580C>A	chr22.hg19:g.21385522G>T	ENSP00000372390:p.Leu194Ile	0					MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I|AC002472.11_ENST00000450652.1_RNA	p.L194I	NM_004173.2	NP_004164.2	1	2	3	2.017290	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	2	647	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	1	1	hg19	c.580C>A	CCDS33608.1	1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230520	0.39399	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89552	-2.53;-2.53	5.28	1.93	0.25924	5.28	1.93	0.25924	Amino acid permease domain (1);	0.204067	0.43110	D	0.000606	D	0.84543	0.5495	L	0.49455	1.56	0.42349	D	0.992363	B	0.25609	0.13	B	0.32211	0.142	T	0.76315	-0.3004	10	0.33940	T	0.23	.	9.0405	0.36314	0.0785:0.279:0.6425:0.0	.	194	O43246	CTR4_HUMAN	I	194	ENSP00000384278:L194I;ENSP00000372390:L194I	ENSP00000372390:L194I	L	-	1	0	0	SLC7A4	19715522	19715522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.135000	0.64777	0.288000	0.22398	-0.258000	0.10820	CTC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_004173			59	58		237	233	1		1	1		0	0	37	0		1	8.291220e-01	0	9	0	6	0	59	237
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1528-1530)tgC>tgT		hypermethylated in cancer 2							46.0	48.0	48.0					22																	21800714		2203	4300	6503	SO:0001819	synonymous_variant	23119	2	121398	32				g.chr22:21800714C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1530C>T	chr22.hg19:g.21800714C>T		0					HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C	p.C510C			1	2	3	2.017290	Q96JB3	HIC2_HUMAN		2	1902	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	1	1	hg19	c.1530C>T	CCDS13789.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2	1	0	1		2	2	2	0		0	0	78		78	74	1	2.060000	-3.321220	1	0.170000				61	61		345	338	1		1	0		0	0	78	0		1	2.891938e-01	0	1	0	6	0	61	345
HIC2	23119	broad.mit.edu	37	22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	562					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAGCCCTTCGCCTGCGATGA	0.632																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.988405	0.990000	1.000000																										0				16						c.(1684-1686)Gcc>Acc		hypermethylated in cancer 2							73.0	60.0	64.0					22																	21800868		2203	4300	6503	SO:0001583	missense	23119	0	0					g.chr22:21800868G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1684G>A	chr22.hg19:g.21800868G>A	ENSP00000387757:p.Ala562Thr	0					HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T	p.A562T			1	2	3	2.017290	Q96JB3	HIC2_HUMAN		2	2056	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	1	1	hg19	c.1684G>A	CCDS13789.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370930	0.82573	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.14893	2.47;2.47;2.47	4.79	4.79	0.61399	4.79	4.79	0.61399	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	0.25457	0.0619	N	0.16266	0.395	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.04373	-1.0956	10	0.34782	T	0.22	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	562	Q96JB3	HIC2_HUMAN	T	562	ENSP00000385319:A562T;ENSP00000384889:A562T;ENSP00000387757:A562T	ENSP00000385319:A562T	A	+	1	0	0	HIC2	20130868	20130868	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.545000	0.82128	2.503000	0.84419	0.558000	0.71614	GCC	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				32	32		287	284	1		1	0		0	0	57	0		1	3.143824e-01	0	1	0	10	0	32	287
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622																																						ENST00000292779.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A93V(1)	large_intestine(1)	22						c.(277-279)gCg>gTg		coiled-coil domain containing 116							116.0	104.0	108.0					22																	21988516		2203	4300	6503	SO:0001583	missense	164592	1	121412	29				g.chr22:21988516C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.278C>T	chr22.hg19:g.21988516C>T	ENSP00000292779:p.Ala93Val	0					CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	p.A93V	NM_152612.2	NP_689825.2	1	2	3	2.017290	Q8IYX3	CC116_HUMAN		3	439	+	Colorectal(54;0.105)		Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	1	1	hg19	c.278C>T	CCDS13791.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	0	CCDC116	20318516	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_152612			81	80		413	407	1		1			0	0	106	0		1	0	0	0	0	0	0	81	413
SDF2L1	23753	broad.mit.edu	37	22	21998296	21998296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	166	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				1						c.(496-498)ggC>ggT		stromal cell-derived factor 2-like 1							116.0	79.0	92.0					22																	21998296		2203	4300	6503	SO:0001819	synonymous_variant	23753	0	0					g.chr22:21998296C>T		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"""dihydropyrimidinase-like 2"", ""PWP1-interacting protein 8"""	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.498C>T	chr22.hg19:g.21998296C>T		0		OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752	KB-1440D3.14_ENST00000609038.1_lincRNA	p.G166G	NM_022044.2	NP_071327.2	1	2	3	2.017290	Q9HCN8	SDF2L_HUMAN		3	574	+	Colorectal(54;0.105)		A2RUD3|Q9BRI5	Silent	SNP	ENST00000248958.4	1	1	hg19	c.498C>T	CCDS13792.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_022044			31	31		174	171	1		1	1		0	0	41	0		1	1	0	127	0	283	0	31	174
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P					peptidylprolyl isomerase (cyclophilin)-like 2									p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547																																						ENST00000335025.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P193P(1)	ovary(1)	17						c.(577-579)ccG>ccA		peptidylprolyl isomerase (cyclophilin)-like 2							39.0	39.0	39.0					22																	22039067		2203	4300	6503	SO:0001819	synonymous_variant	23759	0	0					g.chr22:22039067G>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.579G>A	chr22.hg19:g.22039067G>A		0					PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P	p.P193P			1	2	3	2.017290				10	670	+	Colorectal(54;0.105)			Silent	SNP	ENST00000335025.8	1	1	hg19	c.579G>A	CCDS13793.1	1																																																																																								1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				34	34		197	197	1		1	1		0	0	44	0		1	9.999731e-01	0	31	0	66	0	34	197
VPREB1	7441	broad.mit.edu	37	22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	29	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642																																						ENST00000403807.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(85-87)atG>atA		pre-B lymphocyte 1							80.0	79.0	79.0					22																	22599398		2203	4300	6503	SO:0001583	missense	7441	1	121400	31				g.chr22:22599398G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.87G>A	chr22.hg19:g.22599398G>A	ENSP00000385361:p.Met29Ile	0					VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I	p.M29I			1	2	3	2.017290	P12018	VPREB_HUMAN		2	226	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	1	1	hg19	c.87G>A	CCDS13798.1	1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.415047	0.25552	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.63096	-0.02;-0.02	3.61	-3.22	0.05125	3.61	-3.22	0.05125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358280	0.04993	N	0.467656	T	0.52158	0.1717	L	0.41356	1.27	0.09310	N	1	B	0.27117	0.168	B	0.31946	0.138	T	0.50466	-0.8825	10	0.46703	T	0.11	.	7.0987	0.25325	0.203:0.5644:0.2326:0.0	.	29	P12018	VPREB_HUMAN	I	29;28	ENSP00000385361:M29I;ENSP00000304590:M28I	ENSP00000304590:M28I	M	+	3	0	0	VPREB1	20929398	20929398	0.456000	0.25744	0.001000	0.08648	0.000000	0.00434	0.678000	0.25277	-0.272000	0.09259	-0.914000	0.02751	ATG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000				68	68		287	281	1		1			0	0	67	0		1	0	0	0	0	0	0	68	287
ZNF280A	129025	broad.mit.edu	37	22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	374					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(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)		CCTGATCTGTTTCAAATGACA	0.488																																						ENST00000302097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1120-1122)gaA>gaC		zinc finger protein 280A							101.0	90.0	94.0					22																	22868833		2203	4300	6503	SO:0001583	missense	129025	0	0					g.chr22:22868833T>G	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.1122A>C	chr22.hg19:g.22868833T>G	ENSP00000302855:p.Glu374Asp	0						p.E374D	NM_080740.3	NP_542778.1	1	2	3	2.017290	P59817	Z280A_HUMAN		2	1374	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		Missense_Mutation	SNP	ENST00000302097.3	1	1	hg19	c.1122A>C	CCDS13800.1	1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451797	0.43531	.	.	ENSG00000169548	ENST00000302097	T	0.28069	1.63	3.9	3.9	0.45041	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.34221	0.0890	L	0.46819	1.47	0.22389	N	0.99915	P	0.46706	0.883	P	0.47134	0.539	T	0.11542	-1.0583	9	0.51188	T	0.08	0.4225	11.3489	0.49577	0.0:0.0:0.0:1.0	.	374	P59817	Z280A_HUMAN	D	374	ENSP00000302855:E374D	ENSP00000302855:E374D	E	-	3	2	2	ZNF280A	21198833	21198833	1.000000	0.71417	0.497000	0.27552	0.382000	0.30200	1.081000	0.30791	1.988000	0.58038	0.533000	0.62120	GAA	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_080740			84	80		419	400	1		1	0		0	0	96	0		1	0	0	1	0	0	0	84	419
GGTLC2	91227	broad.mit.edu	37	22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000480559.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Missense_Mutation_p.V115M	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	115					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647																																						ENST00000480559.1	1.000000	0.710000	1	8.100000e-01	0.930000	0.917954	0.930000	1.000000																										0				11						c.(343-345)Gtg>Atg		gamma-glutamyltransferase light chain 2							59.0	68.0	65.0					22																	22989491		2203	4298	6501	SO:0001583	missense	91227	0	0					g.chr22:22989491G>A	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.343G>A	chr22.hg19:g.22989491G>A	ENSP00000419751:p.Val115Met	0					GGTLC2_ENST00000448514.1_Missense_Mutation_p.V115M|POM121L1P_ENST00000402027.1_RNA	p.V115M	NM_199127.2	NP_954578.2	1	2	3	2.017290	Q14390	GGTL2_HUMAN		3	343	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	1	1	hg19	c.343G>A	CCDS13802.2	1	.	.	.	.	.	.	.	.	.	.	g	9.519	1.107886	0.20714	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06849	3.25;3.25	.	.	.	.	.	.	.	0.211609	0.40818	N	0.001017	T	0.09335	0.0230	L	0.51853	1.615	0.26742	N	0.970369	P;P	0.41848	0.763;0.763	P;P	0.46208	0.507;0.507	T	0.12372	-1.0550	9	0.45353	T	0.12	-36.1029	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	115;115	Q14390;B7WND7	GGTL2_HUMAN;.	M	115	ENSP00000419751:V115M;ENSP00000415676:V115M	ENSP00000415676:V115M	V	+	1	0	0	GGTLC2	21319491	21319491	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-0.000000	0.14550	0.000000	0.15137	GTG	1.790713e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	1	0	1		2	2	2	0		0	0	111		111	116	1	2.060000	-12.991320	1	0.170000	NM_199127			56	52		667	605	0		1			0	0	111	0		1	0	0	0	0	0	0	56	667
GNAZ	2781	broad.mit.edu	37	22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|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)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542																																						ENST00000248996.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(979-981)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha z polypeptide							143.0	105.0	118.0					22																	23465529		2203	4300	6503	SO:0001583	missense	2781	0	0					g.chr22:23465529G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.979G>A	chr22.hg19:g.23465529G>A	ENSP00000248996:p.Ala327Thr	0					RTDR1_ENST00000216036.4_Intron	p.A327T	NM_002073.2	NP_002064.1	1	2	3	2.015224	P19086	GNAZ_HUMAN		3	1645	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	1	1	hg19	c.979G>A	CCDS13804.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.944967	0.97134	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.91351	-2.83	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98609	1.0662	10	0.87932	D	0	.	18.4882	0.90836	0.0:0.0:1.0:0.0	.	327	P19086	GNAZ_HUMAN	T	327;275	ENSP00000248996:A327T	ENSP00000248996:A327T	A	+	1	0	0	GNAZ	21795529	21795529	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.596000	0.98267	2.695000	0.91970	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.293914	1	0.170000	NM_002073			55	55		231	225	1		1	1		0	0	58	0		1	9.998273e-01	0	12	0	45	0	55	231
RAB36	9609	broad.mit.edu	37	22	23488872	23488872	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267G>T	c.(265-267)aaG>aaT	p.K89N	RAB36_ENST00000341989.4_Splice_Site_p.K89N|RTDR1_ENST00000406876.1_5'Flank	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	89					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTTCCCTAAGGTAGAGAGTC	0.572																																						ENST00000263116.2	1.000000	0.160000	5.800000e-01	2.400000e-01	0.370000	0.435170	0.370000	0.330000																										0				15						c.(265-267)aaG>aaT		RAB36, member RAS oncogene family							71.0	61.0	64.0					22																	23488872		2203	4300	6503	SO:0001630	splice_region_variant	9609	0	0					g.chr22:23488872G>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.267+1G>T	chr22.hg19:g.23488872G>T		0					RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Splice_Site_p.K89N	p.K89N	NM_004914.2	NP_004905.2	1	2	3	2.015224	O95755	RAB36_HUMAN		2	307	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	0	1	hg19	c.267G>T	CCDS13805.1	0	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142038	0.77775	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64803	-0.12;0.26	5.2	4.17	0.49024	5.2	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	L	0.55990	1.75	0.80722	D	1	D;P	0.63046	0.992;0.93	P;P	0.59948	0.866;0.552	T	0.71076	-0.4697	10	0.72032	D	0.01	-49.6785	10.3228	0.43775	0.0963:0.0:0.9037:0.0	.	89;89	O95755-2;O95755	.;RAB36_HUMAN	N	89;89;50	ENSP00000263116:K89N;ENSP00000343494:K89N	ENSP00000263116:K89N	K	+	3	2	2	RAB36	21818872	21818872	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.759000	0.62227	2.602000	0.87976	0.650000	0.86243	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.416406	1	0.170000	NM_004914	Missense_Mutation		7	7		240	232	0		1	0		0	0	52	0		9.786602e-01	1.280194e-01	0	1	0	18	0	7	240
RAB36	9609	broad.mit.edu	37	22	23495220	23495220	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	142					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478																																						ENST00000263116.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(424-426)agG>agA		RAB36, member RAS oncogene family							164.0	156.0	158.0					22																	23495220		2203	4300	6503	SO:0001630	splice_region_variant	9609	0	0					g.chr22:23495220G>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.426-1G>A	chr22.hg19:g.23495220G>A		0					RAB36_ENST00000341989.4_Splice_Site_p.G120G	p.R142R	NM_004914.2	NP_004905.2	1	2	3	2.015224	O95755	RAB36_HUMAN		5	466	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	1	0	hg19	c.426G>A	CCDS13805.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822898	0.50739	.	.	ENSG00000100228	ENST00000420895	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	.	10.4969	0.44783	0.0886:0.0:0.9114:0.0	.	.	.	.	I	37	.	.	V	+	1	0	0	RAB36	21825220	21825220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.501000	0.53325	2.709000	0.92574	0.563000	0.77884	GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_004914	Silent		115	115		406	404	1		1	1		0	0	99	0		1	9.949835e-01	0	7	0	24	0	115	406
RGL4	266747	broad.mit.edu	37	22	24034358	24034358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000290691.5	+	1	1311	c.141C>T	c.(139-141)ggC>ggT	p.G47G	KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Intron|AP000347.2_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	47					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632																																						ENST00000290691.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(139-141)ggC>ggT		ral guanine nucleotide dissociation stimulator-like 4							100.0	93.0	96.0					22																	24034358		2203	4300	6503	SO:0001819	synonymous_variant	266747	0	0					g.chr22:24034358C>T		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.141C>T	chr22.hg19:g.24034358C>T		0					GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Intron	p.G47G	NM_153615.1	NP_705843.1	1	2	3	2.015224	Q8IZJ4	RGDSR_HUMAN		1	1311	+			Q495L8	Silent	SNP	ENST00000290691.5	1	1	hg19	c.141C>T	CCDS13811.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-3.377988	1	0.170000	NM_153615			112	110		506	499	1		1	1		0	0	113	0		1	4.419550e-01	0	4	0	4	0	112	506
ZNF70	7621	broad.mit.edu	37	22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTCTCCCCGGTGTGGATGAT	0.617																																						ENST00000341976.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				21						c.(571-573)aCc>aTc		zinc finger protein 70							65.0	57.0	59.0					22																	24086756		2203	4300	6503	SO:0001583	missense	7621	0	0					g.chr22:24086756G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.572C>T	chr22.hg19:g.24086756G>A	ENSP00000339314:p.Thr191Ile	0						p.T191I	NM_021916.2	NP_068735.1	1	2	3	2.015224	Q9UC06	ZNF70_HUMAN		2	1032	-				Missense_Mutation	SNP	ENST00000341976.3	1	1	hg19	c.572C>T	CCDS13812.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687932	0.68271	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.49	3.49	0.39957	3.49	3.49	0.39957	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.46947	1.48	0.39116	D	0.961569	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	9	0.87932	D	0	-18.761	13.3553	0.60625	0.0:0.0:1.0:0.0	.	191	Q9UC06	ZNF70_HUMAN	I	191	ENSP00000339314:T191I	ENSP00000339314:T191I	T	-	2	0	0	ZNF70	22416756	22416756	1.000000	0.71417	0.972000	0.41901	0.736000	0.42039	7.233000	0.78125	2.269000	0.75478	0.558000	0.71614	ACC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_021916			44	42		238	233	1		1	0		0	0	61	0		1	2.443695e-01	0	1	0	5	0	44	238
VPREB3	29802	broad.mit.edu	37	22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000248948.3	-	2	243	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CTGATGGTGACGTGCTGGGGG	0.632													C|||	16	0.00319489	0.0121	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.0					ENST00000248948.3	1.000000	0.410000	1	5.800000e-01	0.810000	0.798503	0.810000	1.000000																										0				3						c.(139-141)Gtc>Atc		pre-B lymphocyte 3		C	ILE/VAL	54,4352	53.6+/-89.4	1,52,2150	85.0	64.0	71.0		139	-5.8	0.0	22	dbSNP_134	71	0,8600		0,0,4300	yes	missense	VPREB3	NM_013378.2	29	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	47/124	24095296	54,12952	2203	4300	6503	SO:0001583	missense	29802	124	121408	51				g.chr22:24095296C>T		CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"""Immunoglobulin superfamily / V-set domain containing"""	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.139G>A	chr22.hg19:g.24095296C>T	ENSP00000248948:p.Val47Ile	0					VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I|ZNF70_ENST00000341976.3_5'Flank	p.V47I	NM_013378.2	NP_037510.1	1	2	3	2.015224	Q9UKI3	VPRE3_HUMAN		2	243	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	B2R587	Missense_Mutation	SNP	ENST00000248948.3	1	1	hg19	c.139G>A	CCDS13813.1	0	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.301	-0.360116	0.05103	0.012256	0.0	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.32023	1.47;1.5	4.94	-5.77	0.02369	4.94	-5.77	0.02369	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.857165	0.09939	N	0.736197	T	0.04679	0.0127	N	0.05351	-0.065	0.09310	N	1	P	0.39847	0.691	B	0.31946	0.138	T	0.34527	-0.9825	10	0.02654	T	1	.	1.0886	0.01659	0.2221:0.2842:0.1094:0.3843	.	47	Q9UKI3	VPRE3_HUMAN	I	31;47	ENSP00000381483:V31I;ENSP00000248948:V47I	ENSP00000248948:V47I	V	-	1	0	0	VPREB3	22425296	22425296	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.017000	0.12590	-0.621000	0.05633	-0.534000	0.04291	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-8.507593	1	0.170000	NM_013378			10	10		145	139	0		1	0		0	0	27	0		9.965524e-01	1.075152e-01	0	0	0	8	0	10	145
MMP11	4320	broad.mit.edu	37	22	24123083	24123083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	218					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)			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)	ATGAATTTGGCCACGTGCTGG	0.612																																						ENST00000215743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(652-654)ggC>ggT		matrix metallopeptidase 11 (stromelysin 3)	Marimastat(DB00786)						68.0	53.0	58.0					22																	24123083		2203	4300	6503	SO:0001819	synonymous_variant	4320	0	0					g.chr22:24123083C>T		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.654C>T	chr22.hg19:g.24123083C>T		0					MMP11_ENST00000477567.1_3'UTR	p.G218G	NM_005940.3	NP_005931.2	1	2	3	2.015224	P24347	MMP11_HUMAN		5	706	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	1	1	hg19	c.654C>T	CCDS13816.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	0	0	1		13	69	2	1		1	1	63		63	63	1	2.060000	-3.731658	1	0.170000	NM_005940			47	47		175	170	1		1	0		1	0	63	0		9.999995e-01	1	0	8	0	1766	0	47	175
SMARCB1	6598	broad.mit.edu	37	22	24176329	24176329	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000263121.7	+	9	1316	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|SMARCB1_ENST00000344921.6_Splice_Site_p.R383W|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000263121.7	1.000000	0.930000	1	9.900000e-01	0.990000	0.994912	0.990000	1.000000			yes	Rec	yes	Rhabdoid predisposition syndrome	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	22q11	6598	D, N, F, S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""				M	M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	458						c.(1120-1122)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							34.0	26.0	29.0					22																	24176329		2195	4299	6494	SO:0001630	splice_region_variant	6598	0	0					g.chr22:24176329C>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1119-1C>T	chr22.hg19:g.24176329C>T		0					DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|SMARCB1_ENST00000344921.6_Splice_Site_p.R383W|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W	p.R374W	NM_003073.3	NP_003064.2	1	2	3	2.015224	Q12824	SNF5_HUMAN		9	1316	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Splice_Site	SNP	ENST00000263121.7	0	0	hg19	c.1120C>T	CCDS13817.1	1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442226	0.63067	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97529	-4.34;-4.42;-4.38;-4.27	4.94	3.9	0.45041	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.919;0.964	D	0.98645	1.0677	10	0.87932	D	0	-9.4379	14.0034	0.64446	0.1526:0.8474:0.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	W	383;374;365;328	ENSP00000340883:R383W;ENSP00000263121:R374W;ENSP00000383984:R365W;ENSP00000385226:R328W	ENSP00000263121:R374W	R	+	1	2	2	SMARCB1	22506329	22506329	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.566000	0.60843	1.206000	0.43276	0.442000	0.29010	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-16.214580	1	0.170000	NM_003073	Missense_Mutation		8	8		38	37	1		1	1		0	0	8	0		9.907779e-01	1	0	94	0	392	0	8	38
DERL3	91319	broad.mit.edu	37	22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000318109.7	-	6	548	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000404056.1_Missense_Mutation_p.V151M|DERL3_ENST00000464023.1_5'Flank			Q96Q80	DERL3_HUMAN	derlin 3	178					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627																																						ENST00000318109.7	1.000000	0.380000	9.800000e-01	5.200000e-01	0.700000	0.723480	0.700000	1.000000																										0				3						c.(532-534)Gtg>Atg		derlin 3							65.0	59.0	61.0					22																	24179333		2203	4300	6503	SO:0001583	missense	91319	0	0					g.chr22:24179333C>T	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.532G>A	chr22.hg19:g.24179333C>T	ENSP00000315303:p.Val178Met	0					DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000404056.1_Missense_Mutation_p.V151M	p.V178M			1	2	3	2.015224	Q96Q80	DERL3_HUMAN		6	548	-			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	1	1	hg19	c.532G>A	CCDS33615.1	0	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737813	0.69304	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.33865	2.66;1.39;2.66;2.66	4.63	3.59	0.41128	4.63	3.59	0.41128	.	0.070231	0.56097	D	0.000031	T	0.64940	0.2644	M	0.90082	3.085	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.73708	0.972;0.981	T	0.73275	-0.4034	10	0.72032	D	0.01	.	13.4842	0.61355	0.1578:0.8422:0.0:0.0	.	178;178	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	M	178;151;178;178	ENSP00000384744:V178M;ENSP00000384473:V151M;ENSP00000315303:V178M;ENSP00000419399:V178M	ENSP00000315303:V178M	V	-	1	0	0	DERL3	22509333	22509333	1.000000	0.71417	0.711000	0.30485	0.851000	0.48451	5.767000	0.68850	1.074000	0.40909	0.558000	0.71614	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-16.600310	1	0.170000	NM_198440			13	13		218	213	0		1	0		0	0	55	0		9.995125e-01	9.999996e-01	0	1	0	544	0	13	218
CABIN1	23523	broad.mit.edu	37	22	24455729	24455729	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000398319.2	+	11	1687	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_ENST00000405822.2_Silent_p.F384F|CABIN1_ENST00000263119.5_Silent_p.F434F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	434					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATTCCTTTAATAACTATG	0.443																																						ENST00000398319.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1300-1302)ttT>ttC		calcineurin binding protein 1							93.0	84.0	87.0					22																	24455729		2203	4300	6503	SO:0001819	synonymous_variant	23523	0	0					g.chr22:24455729T>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1302T>C	chr22.hg19:g.24455729T>C		0					CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000405822.2_Silent_p.F384F	p.F434F	NM_001199281.1	NP_001186210.1	1	2	3	2.015224	Q9Y6J0	CABIN_HUMAN		11	1687	+			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	1	1	hg19	c.1302T>C	CCDS13823.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_012295			53	53		178	175	1		1	1		0	0	55	0		1	9.992978e-01	0	9	0	31	0	53	178
CABIN1	23523	broad.mit.edu	37	22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000398319.2	+	12	1983	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y|CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	533					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAGGGACTGCAGCAACAAG	0.622																																						ENST00000398319.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1597-1599)tGc>tAc		calcineurin binding protein 1							43.0	39.0	40.0					22																	24456585		2203	4300	6503	SO:0001583	missense	23523	0	0					g.chr22:24456585G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1598G>A	chr22.hg19:g.24456585G>A	ENSP00000381364:p.Cys533Tyr	0					CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y|CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y	p.C533Y	NM_001199281.1	NP_001186210.1	1	2	3	2.015224	Q9Y6J0	CABIN_HUMAN		12	1983	+			G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	1	1	hg19	c.1598G>A	CCDS13823.1	1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75050	-0.9;-0.9;-0.9	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.048717	0.85682	D	0.000000	T	0.77738	0.4175	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.75912	-0.3150	10	0.36615	T	0.2	.	14.5566	0.68103	0.0:0.1575:0.8425:0.0	.	483;533	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Y	533;483;533	ENSP00000263119:C533Y;ENSP00000384694:C483Y;ENSP00000381364:C533Y	ENSP00000263119:C533Y	C	+	2	0	0	CABIN1	22786585	22786585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.950000	0.70265	2.592000	0.87571	0.644000	0.83932	TGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_012295			39	39		151	150	1		1	1		0	0	31	0		1	9.996205e-01	0	15	0	35	0	39	151
CABIN1	23523	broad.mit.edu	37	22	24480696	24480696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000398319.2	+	21	3460	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_ENST00000405822.2_Silent_p.S975S|CABIN1_ENST00000263119.5_Silent_p.S1025S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCCCTTAGCCTGGACAAAG	0.552																																						ENST00000398319.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3073-3075)agC>agT		calcineurin binding protein 1							91.0	77.0	81.0					22																	24480696		2203	4300	6503	SO:0001819	synonymous_variant	23523	0	0					g.chr22:24480696C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3075C>T	chr22.hg19:g.24480696C>T		0					CABIN1_ENST00000263119.5_Silent_p.S1025S|CABIN1_ENST00000405822.2_Silent_p.S975S	p.S1025S	NM_001199281.1	NP_001186210.1	1	2	3	2.015224	Q9Y6J0	CABIN_HUMAN		21	3460	+			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	1	1	hg19	c.3075C>T	CCDS13823.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_012295			77	76		310	304	1		1	1		0	0	65	0		1	9.999330e-01	0	9	0	50	0	77	310
CABIN1	23523	broad.mit.edu	37	22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000398319.2	+	27	4647	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1421					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGCAGGAGCGACGGGTAAA	0.507																																						ENST00000398319.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4261-4263)gCg>gTg		calcineurin binding protein 1							81.0	82.0	81.0					22																	24509677		2203	4300	6503	SO:0001583	missense	23523	2	121410	36				g.chr22:24509677C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4262C>T	chr22.hg19:g.24509677C>T	ENSP00000381364:p.Ala1421Val	0					CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V	p.A1421V	NM_001199281.1	NP_001186210.1	1	2	3	2.015224	Q9Y6J0	CABIN_HUMAN		27	4647	+			G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	1	1	hg19	c.4262C>T	CCDS13823.1	1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072617	0.08436	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.17;-0.05;0.17	4.44	-7.85	0.01192	4.44	-7.85	0.01192	.	1.488080	0.03540	N	0.223755	T	0.35885	0.0947	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.079;0.048	B;B	0.15870	0.014;0.006	T	0.41431	-0.9509	10	0.06236	T	0.91	.	9.8865	0.41264	0.0:0.1883:0.1182:0.6935	.	1342;1421	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1421;1342;1421	ENSP00000263119:A1421V;ENSP00000384694:A1342V;ENSP00000381364:A1421V	ENSP00000263119:A1421V	A	+	2	0	0	CABIN1	22839677	22839677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-1.329000	0.02258	-1.867000	0.00556	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_012295			85	83		460	443	1		1	1		0	0	135	0		1	9.999990e-01	0	21	0	87	0	85	460
CABIN1	23523	broad.mit.edu	37	22	24561582	24561582	+	Silent	SNP	C	C	T	rs201868169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000398319.2	+	31	5380	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000337989.7_Silent_p.S90S|CABIN1_ENST00000263119.5_Silent_p.S1665S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1665					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACGCTGAGCGAGCTCGCAG	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23131	0.0		0.0	False		,,,				2504	0.0					ENST00000398319.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				65						c.(4993-4995)agC>agT		calcineurin binding protein 1		C	,,	2,4402	4.2+/-10.8	0,2,2200	102.0	65.0	77.0		4995,4845,4995	-2.5	1.0	22		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	1665/2221,1615/2171,1665/2221	24561582	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23523	7	121350	40				g.chr22:24561582C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4995C>T	chr22.hg19:g.24561582C>T		0					CABIN1_ENST00000337989.7_Silent_p.S90S|CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000405822.2_Silent_p.S1586S	p.S1665S	NM_001199281.1	NP_001186210.1	1	2	3	2.015224	Q9Y6J0	CABIN_HUMAN		31	5380	+			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	1	1	hg19	c.4995C>T	CCDS13823.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_012295			23	23		79	79	1		1	1		0	0	23	0		9.999998e-01	9.999999e-01	0	28	0	83	0	23	79
SUSD2	56241	broad.mit.edu	37	22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	582	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGTGTGTCCGTCCTGCTGCC	0.657													G|||	12	0.00239617	0.0091	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0					ENST00000358321.3	1.000000	0.260000	7.400000e-01	3.700000e-01	0.510000	0.562079	0.510000	0.470000																										0				26						c.(1744-1746)Gtc>Atc		sushi domain containing 2		G	ILE/VAL	14,4392	20.2+/-43.8	0,14,2189	174.0	135.0	148.0		1744	1.1	0.1	22	dbSNP_132	148	0,8600		0,0,4300	yes	missense	SUSD2	NM_019601.3	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	possibly-damaging	582/823	24583271	14,12992	2203	4300	6503	SO:0001583	missense	56241	52	121412	49				g.chr22:24583271G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1744G>A	chr22.hg19:g.24583271G>A	ENSP00000351075:p.Val582Ile	0						p.V582I	NM_019601.3	NP_062547.1	1	2	3	2.015224	Q9UGT4	SUSD2_HUMAN		11	2005	+			Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	1	1	hg19	c.1744G>A	CCDS13824.1	0	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.542	1.113576	0.20795	0.003177	0.0	ENSG00000099994	ENST00000358321	T	0.60797	0.16	4.49	1.1	0.20463	4.49	1.1	0.20463	von Willebrand factor, type D domain (3);	0.124624	0.53938	N	0.000055	T	0.36166	0.0957	L	0.53617	1.68	0.33002	D	0.526427	B	0.28470	0.213	B	0.23018	0.043	T	0.41680	-0.9495	10	0.26408	T	0.33	-35.7097	7.3624	0.26754	0.3256:0.0:0.6744:0.0	.	582	Q9UGT4	SUSD2_HUMAN	I	582	ENSP00000351075:V582I	ENSP00000351075:V582I	V	+	1	0	0	SUSD2	22913271	22913271	0.988000	0.35896	0.139000	0.22197	0.023000	0.10783	1.336000	0.33850	0.071000	0.16664	0.549000	0.68633	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	0	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-12.279080	1	0.170000	NM_019601			11	11		259	254	0		1	0		0	0	55	0		9.982559e-01	9.852083e-01	0	0	0	171	0	11	259
GGT5	2687	broad.mit.edu	37	22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S|GGT5_ENST00000263112.7_Missense_Mutation_p.G355S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	387					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692																																						ENST00000327365.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				28						c.(1159-1161)Ggc>Agc		gamma-glutamyltransferase 5							30.0	31.0	31.0					22																	24622114		2203	4299	6502	SO:0001583	missense	2687	0	0					g.chr22:24622114C>T	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.1159G>A	chr22.hg19:g.24622114C>T	ENSP00000330080:p.Gly387Ser	0					GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	p.G387S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	1	2	3	2.015224	P36269	GGT5_HUMAN		8	1575	-			Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	1	1	hg19	c.1159G>A	CCDS13825.1	1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715644	0.68844	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.984;0.99;0.999;0.97;0.999	T	0.29912	-0.9996	10	0.72032	D	0.01	-35.4785	15.122	0.72450	0.0:1.0:0.0:0.0	.	310;355;387;387;387	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	387;355;302;387;310	ENSP00000330080:G387S;ENSP00000263112:G355S;ENSP00000381340:G387S;ENSP00000392146:G310S	ENSP00000263112:G355S	G	-	1	0	0	GGT5	22952114	22952114	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.805000	0.75191	2.262000	0.75019	0.485000	0.47835	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	1	0	0		2	2	2	0		0	0	29		29	27	1	2.060000	-20.000000	1	0.170000	NM_004121			28	28		150	143	1		1	0		0	0	29	0		1	1	0	0	0	481	0	28	150
ADORA2A	135	broad.mit.edu	37	22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_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	30					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)			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)	GTGTGCTGGGCCGTGTGGCTC	0.617																																						ENST00000337539.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(88-90)gCc>gTc		adenosine A2a receptor	Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)						143.0	86.0	105.0					22																	24829461		2203	4300	6503	SO:0001583	missense	135	0	0					g.chr22:24829461C>T	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.89C>T	chr22.hg19:g.24829461C>T	ENSP00000336630:p.Ala30Val	0					ADORA2A_ENST00000496497.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	p.A30V	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	1	2	3	2.015224	P29274	AA2AR_HUMAN		2	548	+	Colorectal(2;0.196)		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	1	1	hg19	c.89C>T	CCDS13826.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963669	0.92791	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.33216	1.42;2.22;2.22;1.42;1.42	4.53	4.53	0.55603	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.55289	-0.8164	10	0.51188	T	0.08	-14.2269	16.4299	0.83839	0.0:1.0:0.0:0.0	.	30	P29274	AA2AR_HUMAN	V	30	ENSP00000404497:A30V;ENSP00000414802:A30V;ENSP00000336630:A30V;ENSP00000397071:A30V;ENSP00000400190:A30V	ENSP00000336630:A30V	A	+	2	0	0	ADORA2A	23159461	23159461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.463000	0.80869	2.350000	0.79820	0.561000	0.74099	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	1	0	1		2	2	2	0		0	0	75		75	71	1	2.060000	-20.000000	1	0.170000	NM_000675			79	78		296	292	1		1	0		0	0	75	0		1	3.744038e-01	0	0	0	6	0	79	296
UPB1	51733	broad.mit.edu	37	22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000326010.5	+	1	426	c.82G>A	c.(82-84)Gtt>Att	p.V28I	ADORA2A-AS1_ENST00000543438.1_RNA|UPB1_ENST00000413389.2_Missense_Mutation_p.R17H|UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000412790.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	28					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGTGAAGCGCGTTCTCTATGG	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					ENST00000326010.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(82-84)Gtt>Att		ureidopropionase, beta		G	ILE/VAL	40,4366	43.1+/-76.7	0,40,2163	73.0	63.0	67.0		82	0.4	0.9	22	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UPB1	NM_016327.2	29	0,41,6462	AA,AG,GG		0.0116,0.9079,0.3152	benign	28/385	24891453	41,12965	2203	4300	6503	SO:0001583	missense	51733	80	121412	51				g.chr22:24891453G>A	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.82G>A	chr22.hg19:g.24891453G>A	ENSP00000324343:p.Val28Ile	0					UPB1_ENST00000413389.2_Missense_Mutation_p.R17H|ADORA2A-AS1_ENST00000412790.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|UPB1_ENST00000382760.2_Missense_Mutation_p.V28I	p.V28I	NM_016327.2	NP_057411.1	1	2	3	2.015224	Q9UBR1	BUP1_HUMAN		1	426	+	Colorectal(2;0.0339)		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	1	1	hg19	c.82G>A	CCDS13827.1	1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.46|16.46	3.129310|3.129310	0.56721|0.56721	0.009079|0.009079	1.16E-4|1.16E-4	ENSG00000100024|ENSG00000100024	ENST00000413389|ENST00000326010;ENST00000382760;ENST00000426507	D|T;T	0.83419|0.77620	-1.72|-1.11;-1.11	5.1|5.1	0.391|0.391	0.16282|0.16282	5.1|5.1	0.391|0.391	0.16282|0.16282	.|.	.|0.482685	.|0.23386	.|N	.|0.048743	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.01168|0.01168	-0.975|-0.975	0.21416|0.21416	N|N	0.999692|0.999692	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.04013	0.0|0.001	T|T	0.38950|0.38950	-0.9637|-0.9637	9|10	0.48119|0.02654	T|T	0.1|1	0.7381|0.7381	4.0678|4.0678	0.09868|0.09868	0.434:0.3568:0.2092:0.0|0.434:0.3568:0.2092:0.0	.|.	17|28	E7EUZ5|Q9UBR1	.|BUP1_HUMAN	H|I	17|28	ENSP00000406057:R17H|ENSP00000324343:V28I;ENSP00000372208:V28I	ENSP00000406057:R17H|ENSP00000324343:V28I	R|V	+|+	2|1	0|0	0|0	UPB1|UPB1	23221453|23221453	23221453|23221453	0.006000|0.006000	0.16342|0.16342	0.938000|0.938000	0.37757|0.37757	0.928000|0.928000	0.56348|0.56348	-0.076000|-0.076000	0.11412|0.11412	-0.144000|-0.144000	0.11314|0.11314	0.585000|0.585000	0.79938|0.79938	CGT|GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1	1	0	1		2	2	2	0		0	0	88		88	84	1	2.060000	-3.450241	1	0.170000				79	78		351	343	1		1			0	0	88	0		1	0	0	0	0	0	0	79	351
UPB1	51733	broad.mit.edu	37	22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000326010.5	+	3	649	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_ENST00000413389.2_Missense_Mutation_p.A34D|UPB1_ENST00000382760.2_Missense_Mutation_p.A102D	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	102	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCATAAAGGCTATCGTAGAG	0.408																																						ENST00000326010.5	1.000000	0.310000	6.000000e-01	3.800000e-01	0.470000	0.520279	0.470000	0.450000																										0				22						c.(304-306)gCt>gAt		ureidopropionase, beta							252.0	217.0	229.0					22																	24898122		2203	4300	6503	SO:0001583	missense	51733	0	0					g.chr22:24898122C>A	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.305C>A	chr22.hg19:g.24898122C>A	ENSP00000324343:p.Ala102Asp	0					UPB1_ENST00000413389.2_Missense_Mutation_p.A34D|UPB1_ENST00000382760.2_Missense_Mutation_p.A102D	p.A102D	NM_016327.2	NP_057411.1	1	2	3	2.015224	Q9UBR1	BUP1_HUMAN		3	649	+	Colorectal(2;0.0339)		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	1	1	hg19	c.305C>A	CCDS13827.1	0	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293848	0.05568	.	.	ENSG00000100024	ENST00000413389;ENST00000326010;ENST00000382760;ENST00000426507	D;D;D	0.86865	-2.18;-2.18;-1.67	5.06	1.42	0.22433	5.06	1.42	0.22433	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.167322	0.52532	D	0.000072	T	0.69415	0.3108	N	0.10972	0.075	0.29193	N	0.875738	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.55829	-0.8079	10	0.15499	T	0.54	-12.8567	7.4629	0.27306	0.5662:0.312:0.1217:0.0	.	102;34	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	D	34;102;102;102	ENSP00000406057:A34D;ENSP00000324343:A102D;ENSP00000372208:A102D	ENSP00000324343:A102D	A	+	2	0	0	UPB1	23228122	23228122	1.000000	0.71417	0.111000	0.21465	0.074000	0.17049	3.355000	0.52262	0.470000	0.27294	0.650000	0.86243	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1	0	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-3.829435	1	0.170000				30	30		749	730	0		1			0	0	165	0		1	0	0	0	0	0	0	30	749
GGT1	2678	broad.mit.edu	37	22	25007192	25007192	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	ENST00000400382.1	+	5	899	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	48					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607																																						ENST00000400382.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.992116	0.990000	1.000000																										0				40						c.(142-144)aaG>aaA		gamma-glutamyltransferase 1	Glutathione(DB00143)						13.0	14.0	13.0					22																	25007192		2026	4175	6201	SO:0001819	synonymous_variant	2678	0	0					g.chr22:25007192G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.144G>A	chr22.hg19:g.25007192G>A		0					GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K	p.K48K			1	2	3	2.015224	P19440	GGT1_HUMAN		5	899	+			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	0	1	hg19	c.144G>A	CCDS42992.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	0	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-14.127220	1	0.170000	NM_013430			6	6		25	24	0		1	1		0	0	8	0		9.670243e-01	9.999782e-01	0	15	0	133	0	6	25
PIWIL3	440822	broad.mit.edu	37	22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	517					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)			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						TCTGTGACTGCTCCTGCTATA	0.428																																						ENST00000332271.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1549-1551)aGc>aTc		piwi-like RNA-mediated gene silencing 3							213.0	207.0	209.0					22																	25131759		2203	4300	6503	SO:0001583	missense	440822	0	0					g.chr22:25131759C>A	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.1550G>T	chr22.hg19:g.25131759C>A	ENSP00000330031:p.Ser517Ile	0					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I	p.S517I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	1	2	3	2.015224	Q7Z3Z3	PIWL3_HUMAN		13	1966	-				Missense_Mutation	SNP	ENST00000332271.5	1	1	hg19	c.1550G>T	CCDS33623.1	1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641480	0.29157	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.05081	3.5;3.5;3.5	1.85	-2.71	0.05986	1.85	-2.71	0.05986	Ribonuclease H-like (1);	0.337015	0.28062	U	0.016756	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;P;P	0.45715	0.382;0.789;0.865	B;P;B	0.44597	0.031;0.454;0.326	T	0.40776	-0.9545	10	0.72032	D	0.01	4.0E-4	6.8962	0.24257	0.0:0.5027:0.0:0.4973	.	408;517;517	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	517;408;408	ENSP00000330031:S517I;ENSP00000431843:S408I;ENSP00000435718:S408I	ENSP00000330031:S517I	S	-	2	0	0	PIWIL3	23461759	23461759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.032000	0.30178	-0.695000	0.05105	-0.657000	0.03884	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	1	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000	NM_001008496			162	161		769	760	1		1			0	0	189	0		1	0	0	0	0	0	0	162	769
PIWIL3	440822	broad.mit.edu	37	22	25144975	25144975	+	Nonsense_Mutation	SNP	G	G	A	rs201028643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25144975G>A	ENST00000332271.5	-	12	1764	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					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)			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						AGTAACTCTCGTACTTTTTTA	0.353																																						ENST00000332271.5	1.000000	0.160000	5.200000e-01	2.400000e-01	0.340000	0.409036	0.340000	0.320000																										0				50						c.(1348-1350)Cga>Tga		piwi-like RNA-mediated gene silencing 3		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	58.0	58.0	58.0		1348	1.2	0.0	22		58	0,8600		0,0,4300	yes	stop-gained	PIWIL3	NM_001008496.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		450/883	25144975	2,13004	2203	4300	6503	SO:0001587	stop_gained	440822	1	121408	35				g.chr22:25144975G>A	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.1348C>T	chr22.hg19:g.25144975G>A	ENSP00000330031:p.Arg450*	0					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*	p.R450*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	1	2	3	2.015224	Q7Z3Z3	PIWL3_HUMAN		12	1764	-				Nonsense_Mutation	SNP	ENST00000332271.5	0	1	hg19	c.1348C>T	CCDS33623.1	0	.	.	.	.	.	.	.	.	.	.	G	38	6.678384	0.97755	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.29	1.22	0.21188	2.29	1.22	0.21188	.	0.304714	0.31020	U	0.008412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-1.0893	8.1043	0.30877	0.0:0.0:0.7572:0.2427	.	.	.	.	X	450;341;341	.	ENSP00000330031:R450X	R	-	1	2	2	PIWIL3	23474975	23474975	0.483000	0.25956	0.001000	0.08648	0.003000	0.03518	3.170000	0.50816	0.505000	0.28104	0.313000	0.20887	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-2.829000	1	0.170000	NM_001008496			9	10		328	324	0		1			0	0	60	0		9.940612e-01	0	0	0	0	0	0	9	328
SGSM1	129049	broad.mit.edu	37	22	25251355	25251355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400359.4	+	7	634	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400358.4_Silent_p.S209S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			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						TCCACAGCTCCCACGTGCGGC	0.622																																						ENST00000400359.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999905	0.990000	1.000000																										0				41						c.(625-627)tcC>tcT		small G protein signaling modulator 1							28.0	31.0	30.0					22																	25251355		2092	4221	6313	SO:0001819	synonymous_variant	129049	0	0					g.chr22:25251355C>T	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.627C>T	chr22.hg19:g.25251355C>T		0					SGSM1_ENST00000400358.4_Silent_p.S209S	p.S209S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	1	2	3	2.015224	Q2NKQ1	SGSM1_HUMAN		7	634	+			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	1	1	hg19	c.627C>T	CCDS46674.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	XM_059318			23	23		118	115	1		1	0		0	0	33	0		9.999996e-01	2.913753e-02	0	0	0	2	0	23	118
SGSM1	129049	broad.mit.edu	37	22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A	rs369682941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400359.4	+	8	794	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400358.4_Missense_Mutation_p.V263I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			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						CAAAAACAACGTTCTTGTTCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22314	0.0		0.0	False		,,,				2504	0.001					ENST00000400359.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				41						c.(787-789)Gtt>Att		small G protein signaling modulator 1		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4026		0,0,2013	82.0	89.0	87.0		787,787,787,787	4.1	1.0	22		87	1,8363		0,1,4181	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6194	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	263/1149,263/1094,263/1033,263/1088	25251633	1,12389	2013	4182	6195	SO:0001583	missense	129049	3	120964	37				g.chr22:25251633G>A	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.787G>A	chr22.hg19:g.25251633G>A	ENSP00000383212:p.Val263Ile	0					SGSM1_ENST00000400358.4_Missense_Mutation_p.V263I	p.V263I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	1	2	3	2.015224	Q2NKQ1	SGSM1_HUMAN		8	794	+			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	1	1	hg19	c.787G>A	CCDS46674.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140086	0.77775	0.0	1.2E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.19669	2.17;2.13	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.058022	0.64402	N	0.000002	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	P;D;D;P;D	0.89917	0.917;0.999;1.0;0.955;0.985	B;D;D;B;D	0.91635	0.357;0.99;0.999;0.332;0.939	T	0.61749	-0.6999	10	0.87932	D	0	-25.9808	15.5962	0.76583	0.0:0.0:1.0:0.0	.	263;238;396;263;238	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	238;263;263	ENSP00000383211:V263I;ENSP00000383212:V263I	ENSP00000383211:V263I	V	+	1	0	0	SGSM1	23581633	23581633	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.711000	0.98735	1.982000	0.57802	0.478000	0.44815	GTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-19.112550	1	0.170000	XM_059318			34	33		171	168	1		1	0		0	0	44	0		1	7.743115e-02	0	1	0	2	0	34	171
SGSM1	129049	broad.mit.edu	37	22	25255780	25255780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25255780C>T	ENST00000400359.4	+	9	906	c.899C>T	c.(898-900)tCt>tTt	p.S300F	SGSM1_ENST00000400358.4_Missense_Mutation_p.S300F	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	300						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			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						ATGAACGGGTCTGTGGGGGAC	0.602																																						ENST00000400359.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(898-900)tCt>tTt		small G protein signaling modulator 1							133.0	136.0	135.0					22																	25255780		2046	4203	6249	SO:0001583	missense	129049	0	0					g.chr22:25255780C>T	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.899C>T	chr22.hg19:g.25255780C>T	ENSP00000383212:p.Ser300Phe	0					SGSM1_ENST00000400358.4_Missense_Mutation_p.S300F	p.S300F	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	1	2	3	2.015224	Q2NKQ1	SGSM1_HUMAN		9	906	+			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	1	0	hg19	c.899C>T	CCDS46674.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926474	0.52759	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08984	3.05;3.03	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.998;0.998;0.997	D;P;D;D;D	0.85130	0.997;0.898;0.969;0.923;0.931	T	0.04825	-1.0924	10	0.18276	T	0.48	-17.0256	17.5542	0.87886	0.0:1.0:0.0:0.0	.	300;416;433;300;433	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	F	416;300;300	ENSP00000383211:S300F;ENSP00000383212:S300F	ENSP00000383211:S300F	S	+	2	0	0	SGSM1	23585780	23585780	0.941000	0.31946	1.000000	0.80357	0.487000	0.33371	2.708000	0.47152	2.460000	0.83146	0.655000	0.94253	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	0		2	2	2	0		0	0	147		147	144	1	2.060000	-20.000000	1	0.170000	XM_059318			105	102		560	547	0		1	0		0	0	147	0		1	0	0	0	0	1	0	105	560
TMEM211	255349	broad.mit.edu	37	22	25331516	25331516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25331516G>A	ENST00000423535.1	-	3	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	TMEM211_ENST00000407886.1_Silent_p.A58A|TMEM211_ENST00000382744.1_Silent_p.A58A			Q6ICI0	TM211_HUMAN	transmembrane protein 211	129						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGAATGGGGAGGCAAGGCCGA	0.522																																						ENST00000423535.1	1.000000	0.110000	4.200000e-01	1.700000e-01	0.260000	0.340184	0.260000	0.240000																										0				8						c.(385-387)gcC>gcT		transmembrane protein 211							88.0	77.0	81.0					22																	25331516		2203	4300	6503	SO:0001819	synonymous_variant	255349	0	0					g.chr22:25331516G>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.387C>T	chr22.hg19:g.25331516G>A		0					TMEM211_ENST00000382744.1_Silent_p.A58A|TMEM211_ENST00000407886.1_Silent_p.A58A	p.A129A			1	2	3	2.015224	Q6ICI0	TM211_HUMAN		3	386	-				Silent	SNP	ENST00000423535.1	0	1	hg19	c.387C>T		0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-7.064444	1	0.170000	NM_001001663			7	7		339	328	0		1			0	0	77	0		9.785286e-01	0	0	0	0	0	0	7	339
CRYBB3	1417	broad.mit.edu	37	22	25601329	25601329	+	Splice_Site	SNP	C	C	T	rs375467933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470C>T	c.(469-471)aCg>aTg	p.T157M	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	157	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATCAACGGGACGTAAGGGACC	0.532																																						ENST00000215855.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999197	0.990000	1.000000																										0				5						c.(469-471)aCg>aTg		crystallin, beta B3		C	MET/THR	0,4406		0,0,2203	78.0	63.0	68.0		470	4.1	1.0	22		68	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CRYBB3	NM_004076.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	157/212	25601329	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1417	21	121412	41				g.chr22:25601329C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.470+1C>T	chr22.hg19:g.25601329C>T		0					CRYBB3_ENST00000404334.1_Intron	p.T157M	NM_004076.3	NP_004067.1	1	2	3	2.015224	P26998	CRBB3_HUMAN		5	550	+			Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Splice_Site	SNP	ENST00000215855.2	1	0	hg19	c.470C>T	CCDS13830.1	1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237932	0.58886	0.0	1.16E-4	ENSG00000100053	ENST00000215855	T	0.76186	-1.0	5.16	4.14	0.48551	5.16	4.14	0.48551	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.114213	0.64402	N	0.000015	D	0.86477	0.5942	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86989	0.2109	10	0.46703	T	0.11	.	12.2128	0.54389	0.0:0.9167:0.0:0.0833	.	157	P26998	CRBB3_HUMAN	M	157	ENSP00000215855:T157M	ENSP00000215855:T157M	T	+	2	0	0	CRYBB3	23931329	23931329	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.138000	0.64795	1.187000	0.43000	0.549000	0.68633	ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_004076	Missense_Mutation		19	17		111	110	0		1			0	0	27	0		9.999930e-01	0	0	0	0	0	0	19	111
CRYBB2	1415	broad.mit.edu	37	22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567																																						ENST00000398215.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				10						c.(433-435)Cgg>Tgg		crystallin, beta B2							88.0	66.0	74.0					22																	25625529		2203	4300	6503	SO:0001583	missense	1415	6	121412	15				g.chr22:25625529C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.433C>T	chr22.hg19:g.25625529C>T	ENSP00000381273:p.Arg145Trp	0						p.R145W	NM_000496.2	NP_000487.1	1	2	3	2.015224	P43320	CRBB2_HUMAN		5	604	+			Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	1	1	hg19	c.433C>T	CCDS13831.1	1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179679	0.57800	.	.	ENSG00000244752	ENST00000398215	T	0.78595	-1.19	5.0	1.17	0.20885	5.0	1.17	0.20885	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.94503	3.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	D	0.92011	0.5618	10	0.66056	D	0.02	.	14.3933	0.66994	0.3923:0.6077:0.0:0.0	rs2330991	145	P43320	CRBB2_HUMAN	W	145	ENSP00000381273:R145W	ENSP00000381273:R145W	R	+	1	2	2	CRYBB2	23955529	23955529	0.950000	0.32346	0.848000	0.33437	0.970000	0.65996	0.103000	0.15292	0.480000	0.27534	-0.188000	0.12872	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.293669	1	0.170000	NM_000496			30	30		149	148	1		1	0		0	0	31	0		1	3.011353e-02	0	1	0	1	0	30	149
CRYBB2	1415	broad.mit.edu	37	22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652																																						ENST00000398215.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(571-573)cGc>cAc		crystallin, beta B2							108.0	86.0	93.0					22																	25627693		2203	4300	6503	SO:0001583	missense	1415	17	121412	44				g.chr22:25627693G>A		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.572G>A	chr22.hg19:g.25627693G>A	ENSP00000381273:p.Arg191His	0						p.R191H	NM_000496.2	NP_000487.1	1	2	3	2.015224	P43320	CRBB2_HUMAN		6	743	+			Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	1	1	hg19	c.572G>A	CCDS13831.1	1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863202	0.32884	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	3.98	0.46160	3.98	3.98	0.46160	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.057317	0.64402	D	0.000002	T	0.76842	0.4044	M	0.83692	2.655	0.58432	D	0.999999	P	0.43750	0.816	B	0.36030	0.216	T	0.79888	-0.1613	10	0.36615	T	0.2	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	191	P43320	CRBB2_HUMAN	H	191	ENSP00000381273:R191H	ENSP00000381273:R191H	R	+	2	0	0	CRYBB2	23957693	23957693	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	5.905000	0.69893	1.763000	0.52060	0.462000	0.41574	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	1	0	1		19	2	2	0		0	1	118		118	114	1	2.060000	-20.000000	1	0.170000	NM_000496			100	98		545	526	1		1	1		0	0	118	0		1	6.591683e-02	0	2	0	1	0	100	545
LRP5L	91355	broad.mit.edu	37	22	25750768	25750768	+	Silent	SNP	G	G	A	rs555246803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0					ENST00000402785.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V150V(1)	cervix(1)	6						c.(448-450)gtC>gtT		low density lipoprotein receptor-related protein 5-like							110.0	97.0	101.0					22																	25750768		2200	4300	6500	SO:0001819	synonymous_variant	91355	2	121394	34				g.chr22:25750768G>A	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.450C>T	chr22.hg19:g.25750768G>A		0					LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V	p.V150V			1	2	3	2.015224	A4QPB2	LRP5L_HUMAN		3	546	-			B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	1	1	hg19	c.450C>T	CCDS33626.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_182492			51	50		202	201	1		1	0		0	0	44	0		1	7.295086e-01	0	1	0	11	0	51	202
ADRBK2	157	broad.mit.edu	37	22	26107046	26107046	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.6	+	17	1599	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	469	AGC-kinase C-terminal.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463																																						ENST00000324198.6	1.000000	0.530000	1	7.200000e-01	0.970000	0.892016	0.970000	1.000000																										0				32						c.(1405-1407)ccC>ccA		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						189.0	143.0	159.0					22																	26107046		2203	4300	6503	SO:0001819	synonymous_variant	157	0	0					g.chr22:26107046C>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1407C>A	chr22.hg19:g.26107046C>A		0						p.P469P	NM_005160.3	NP_005151.2	1	2	3	2.015224	P35626	ARBK2_HUMAN		17	1599	+			Q9UGW9	Silent	SNP	ENST00000324198.6	0	1	hg19	c.1407C>A	CCDS13832.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.222248	1	0.170000	NM_005160			12	11		141	138	0		1	1		0	0	30	0		9.991056e-01	9.314925e-01	0	7	0	50	0	12	141
MYO18B	84700	broad.mit.edu	37	22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A	rs201697628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000407587.2	+	4	1314	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N|MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	382						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CGGAGCACGACTGGGAAGGCA	0.587																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999893	0.990000	1.000000																										0				146						c.(1144-1146)aCt>aAt		myosin XVIIIB							37.0	41.0	40.0					22																	26165028		2091	4217	6308	SO:0001583	missense	84700	0	0					g.chr22:26165028C>A	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.1145C>A	chr22.hg19:g.26165028C>A	ENSP00000386096:p.Thr382Asn	0					MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N	p.T382N			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		4	1314	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	1	hg19	c.1145C>A		1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375684	0.24857	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	3.72	2.68	0.31781	3.72	2.68	0.31781	.	3.390750	0.01089	N	0.005146	T	0.79058	0.4382	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.25405	0.027;0.06;0.06	T	0.67428	-0.5673	10	0.45353	T	0.12	.	5.4493	0.16554	0.1972:0.6899:0.0:0.1129	.	382;382;382	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	382	ENSP00000441229:T382N;ENSP00000334563:T382N;ENSP00000386096:T382N	ENSP00000334563:T382N	T	+	2	0	0	MYO18B	24495028	24495028	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	0.839000	0.34971	0.491000	0.48974	ACT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_032608			19	18		87	86	1		1	0		0	0	20	0		9.999943e-01	0	0	1	0	0	0	19	87
MYO18B	84700	broad.mit.edu	37	22	26219522	26219522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26219522G>A	ENST00000407587.2	+	13	2741	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A858T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A858T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	858	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CGCAGCTGAGGCCCTGGGCTG	0.587																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(2572-2574)Gcc>Acc		myosin XVIIIB							106.0	108.0	107.0					22																	26219522		2074	4207	6281	SO:0001583	missense	84700	0	0					g.chr22:26219522G>A	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.2572G>A	chr22.hg19:g.26219522G>A	ENSP00000386096:p.Ala858Thr	0					MYO18B_ENST00000335473.7_Missense_Mutation_p.A858T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A858T	p.A858T			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		13	2741	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	0	hg19	c.2572G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934462	0.18206	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71698	-0.59;-0.59;-0.59	4.63	4.63	0.57726	4.63	4.63	0.57726	Myosin head, motor domain (2);	0.155896	0.41396	D	0.000899	T	0.67636	0.2914	L	0.50333	1.59	0.29691	N	0.84094	P;P;P;P	0.48834	0.825;0.916;0.873;0.897	B;B;B;B	0.44108	0.313;0.441;0.273;0.313	T	0.66803	-0.5831	10	0.29301	T	0.29	.	16.3964	0.83607	0.0:0.0:1.0:0.0	.	371;858;858;858	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	858	ENSP00000441229:A858T;ENSP00000334563:A858T;ENSP00000386096:A858T	ENSP00000334563:A858T	A	+	1	0	0	MYO18B	24549522	24549522	1.000000	0.71417	0.997000	0.53966	0.047000	0.14425	2.877000	0.48506	2.269000	0.75478	0.448000	0.29417	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_032608			117	116		520	512	0		1	0		0	0	135	0		1	0	0	1	0	0	0	117	520
MYO18B	84700	broad.mit.edu	37	22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000407587.2	+	15	3134	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	989	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CTCCACGCTACAGCGATATCA	0.602																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(2965-2967)Cag>Tag		myosin XVIIIB							54.0	58.0	57.0					22																	26224921		2051	4199	6250	SO:0001587	stop_gained	84700	0	0					g.chr22:26224921C>T	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.2965C>T	chr22.hg19:g.26224921C>T	ENSP00000386096:p.Gln989*	0					MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*	p.Q989*			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		15	3134	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	0	1	hg19	c.2965C>T		1	.	.	.	.	.	.	.	.	.	.	C	41	8.572203	0.98868	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.69	3.67	0.42095	4.69	3.67	0.42095	.	0.126707	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7042	0.62627	0.0:0.1588:0.8412:0.0	.	.	.	.	X	989	.	ENSP00000334563:Q989X	Q	+	1	0	0	MYO18B	24554921	24554921	1.000000	0.71417	0.976000	0.42696	0.021000	0.10359	3.493000	0.53266	1.196000	0.43129	-0.256000	0.11100	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_032608			43	43		193	191	1		1			0	0	45	0		1	0	0	0	0	0	0	43	193
MYO18B	84700	broad.mit.edu	37	22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000407587.2	+	37	5972	c.5803G>A	c.(5803-5805)Gcc>Acc	p.A1935T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1934	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						GCTGGAGGAAGCCAAGAAGGA	0.438																																						ENST00000407587.2	1.000000	0.680000	1	9.900000e-01	0.990000	0.973599	0.990000	1.000000																										0				146						c.(5803-5805)Gcc>Acc		myosin XVIIIB							39.0	44.0	42.0					22																	26346384		1954	4155	6109	SO:0001583	missense	84700	0	0					g.chr22:26346384G>A	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.5803G>A	chr22.hg19:g.26346384G>A	ENSP00000386096:p.Ala1935Thr	0					MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T	p.A1935T			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		37	5972	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	1	hg19	c.5803G>A		1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399706	0.42512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88046	-2.31;-2.31;-2.33	5.51	0.915	0.19366	5.51	0.915	0.19366	.	0.363968	0.25780	N	0.028356	T	0.73713	0.3622	N	0.17474	0.49	0.24291	N	0.995169	B;B;B;B	0.18310	0.004;0.01;0.027;0.016	B;B;B;B	0.13407	0.009;0.004;0.009;0.009	T	0.60177	-0.7314	10	0.31617	T	0.26	.	9.1788	0.37129	0.3555:0.0:0.6444:0.0	.	1447;1934;1935;1934	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1934;1934;1935	ENSP00000441229:A1934T;ENSP00000334563:A1934T;ENSP00000386096:A1935T	ENSP00000334563:A1934T	A	+	1	0	0	MYO18B	24676384	24676384	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.721000	0.47260	0.281000	0.22233	-0.251000	0.11542	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-14.412260	1	0.170000	NM_032608			8	8		60	56	1		1	0		0	0	20	0		9.882433e-01	0	0	1	0	0	0	8	60
MYO18B	84700	broad.mit.edu	37	22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000407587.2	+	41	6500	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K|MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2110						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E2111Q(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						CGGCCGAAAAGAGATGTAAGT	0.542																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999826	0.990000	1.000000																										1	Substitution - Missense(1)	p.E2111Q(1)	skin(1)	146						c.(6331-6333)Gag>Aag		myosin XVIIIB							56.0	64.0	62.0					22																	26399271		1993	4159	6152	SO:0001583	missense	84700	0	0					g.chr22:26399271G>A	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.6331G>A	chr22.hg19:g.26399271G>A	ENSP00000386096:p.Glu2111Lys	0					MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K	p.E2111K			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		41	6500	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	0	1	hg19	c.6331G>A		1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015121	0.54468	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.334578	0.25094	N	0.033186	D	0.89808	0.6822	L	0.57536	1.79	0.35715	D	0.816692	P;P;P;D	0.64830	0.827;0.956;0.932;0.994	P;P;P;P	0.59056	0.52;0.572;0.655;0.851	D	0.91894	0.5526	10	0.54805	T	0.06	.	12.548	0.56212	0.0:0.0:1.0:0.0	.	1623;2110;2111;2110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	2110;2110;2111	ENSP00000441229:E2110K;ENSP00000334563:E2110K;ENSP00000386096:E2111K	ENSP00000334563:E2110K	E	+	1	0	0	MYO18B	24729271	24729271	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	3.817000	0.55668	2.683000	0.91414	0.557000	0.71058	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_032608			14	14		52	51	1		1			0	0	10	0		9.998502e-01	0	0	0	0	0	0	14	52
MYO18B	84700	broad.mit.edu	37	22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000407587.2	+	43	7663	c.7494G>T	c.(7492-7494)gaG>gaT	p.E2498D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D|MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGAGCCCGGAGCCCAAGGAGG	0.537																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(7492-7494)gaG>gaT		myosin XVIIIB							62.0	66.0	64.0					22																	26423431		2008	4152	6160	SO:0001583	missense	84700	0	0					g.chr22:26423431G>T	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.7494G>T	chr22.hg19:g.26423431G>T	ENSP00000386096:p.Glu2498Asp	0					MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D	p.E2498D			1	2	3	2.015224	Q8IUG5	MY18B_HUMAN		43	7663	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	1	hg19	c.7494G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083909|3.083909	0.55861|0.55861	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.89343|.	-2.48;-2.48;-2.5|.	5.17|5.17	1.31|1.31	0.21738|0.21738	5.17|5.17	1.31|1.31	0.21738|0.21738	.|.	0.589854|.	0.15351|.	N|.	0.266962|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.67145|.	0.988;0.993;0.993;0.996;0.996|.	P;P;P;P;P|.	0.60609|.	0.829;0.757;0.757;0.877;0.877|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.54805|.	T|.	0.06|.	.|.	7.0998|7.0998	0.25330|0.25330	0.173:0.2663:0.5607:0.0|0.173:0.2663:0.5607:0.0	.|.	2010;2499;2497;2498;2497|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2497;2497;2498|447	ENSP00000441229:E2497D;ENSP00000334563:E2497D;ENSP00000386096:E2498D|.	ENSP00000334563:E2497D|.	E|S	+|+	3|2	2|0	2|0	MYO18B|MYO18B	24753431|24753431	24753431|24753431	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.761000|0.761000	0.43186|0.43186	0.422000|0.422000	0.21296|0.21296	0.537000|0.537000	0.28751|0.28751	0.561000|0.561000	0.74099|0.74099	GAG|AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_032608			46	45		175	172	1		1	0		0	0	32	0		1	2.856067e-01	0	1	0	4	0	46	175
SEZ6L	23544	broad.mit.edu	37	22	26761510	26761510	+	Silent	SNP	C	C	T	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000248933.6	+	13	2867	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000402979.1_Silent_p.N697N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	924	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)				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						CCCACTGGAACGGGCCCCTGC	0.577																																						ENST00000248933.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				80						c.(2770-2772)aaC>aaT		seizure related 6 homolog (mouse)-like		C	,,,,,	0,4406		0,0,2203	68.0	63.0	65.0		2772,2772,2772,2580,,2772	-2.9	1.0	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	924/1024,924/1014,924/1012,860/950,,924/1025	26761510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544	7	121410	36				g.chr22:26761510C>T	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.2772C>T	chr22.hg19:g.26761510C>T		0					SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000494013.1_3'UTR	p.N924N			1	2	3	2.015224	Q9BYH1	SE6L1_HUMAN		13	2867	+			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	1	1	hg19	c.2772C>T	CCDS13833.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				41	41		233	229	0		1	0		0	0	71	0		1	6.296088e-02	0	0	0	3	0	41	233
ASPHD2	57168	broad.mit.edu	37	22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	252					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537																																						ENST00000215906.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(754-756)cGc>cAc		aspartate beta-hydroxylase domain containing 2							156.0	148.0	151.0					22																	26830336		2203	4300	6503	SO:0001583	missense	57168	0	0					g.chr22:26830336G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.755G>A	chr22.hg19:g.26830336G>A	ENSP00000215906:p.Arg252His	0						p.R252H	NM_020437.4	NP_065170.2	1	2	3	2.015224	Q6ICH7	ASPH2_HUMAN		2	1193	+			B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	1	1	hg19	c.755G>A	CCDS13834.2	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652026	0.88056	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67256	-0.5716	10	0.51188	T	0.08	-44.4226	17.0945	0.86631	0.0:0.0:1.0:0.0	.	252	Q6ICH7	ASPH2_HUMAN	H	252	ENSP00000215906:R252H	ENSP00000215906:R252H	R	+	2	0	0	ASPHD2	25160336	25160336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_020437			125	122		513	510	1		1	1		0	0	131	0		1	9.999967e-01	0	36	0	38	0	125	513
ASPHD2	57168	broad.mit.edu	37	22	26838423	26838423	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1		HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2						peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517																																						ENST00000215906.5	1.000000	0.960000	1	9.900000e-01	0.990000	0.997712	0.990000	1.000000																										0				16						c.e3-1		aspartate beta-hydroxylase domain containing 2							112.0	120.0	117.0					22																	26838423		2203	4300	6503	SO:0001630	splice_region_variant	57168	0	0					g.chr22:26838423A>G	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.887-1A>G	chr22.hg19:g.26838423A>G		0					HPS4_ENST00000493455.2_5'Flank		NM_020437.4	NP_065170.2	1	2	3	2.015224	Q6ICH7	ASPH2_HUMAN		3	1324	+			B2RCH3|Q7L0W3|Q9NSN3	Splice_Site	SNP	ENST00000215906.5	1	1	hg19		CCDS13834.2	1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905827	0.33628	.	.	ENSG00000128203	ENST00000215906	.	.	.	4.35	-0.369	0.12534	4.35	-0.369	0.12534	.	.	.	.	.	.	.	.	.	.	.	0.46521	D	0.999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8781	0.13665	0.6668:0.1526:0.1806:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ASPHD2	25168423	25168423	1.000000	0.71417	0.015000	0.15790	0.431000	0.31685	8.271000	0.89883	-0.227000	0.09884	0.533000	0.62120	.	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-19.998690	1	0.170000	NM_020437	Intron		77	75		688	670	1		1	0		0	0	123	0		1	0	0	0	0	1	0	77	688
HPS4	89781	broad.mit.edu	37	22	26854526	26854526	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	577					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)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATTCAGTGAAGCCAGGCTGC	0.552									Hermansky-Pudlak syndrome																													ENST00000398145.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998831	0.990000	1.000000																										0				32						c.(1729-1731)gcT>gcG		Hermansky-Pudlak syndrome 4							68.0	54.0	59.0					22																	26854526		2203	4300	6503	SO:0001819	synonymous_variant	89781	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr22:26854526A>C		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.1731T>G	chr22.hg19:g.26854526A>C		0					HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A	p.A577A	NM_022081.5	NP_071364.4	1	2	3	2.015224	Q9NQG7	HPS4_HUMAN		12	2347	-			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	1	1	hg19	c.1731T>G	CCDS13835.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_022081			24	24		160	153	1		1	1		0	0	35	0		9.999997e-01	9.939359e-01	0	9	0	48	0	24	160
HPS4	89781	broad.mit.edu	37	22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					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)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGCAGGGACAGCACCAGCCCT	0.617									Hermansky-Pudlak syndrome																													ENST00000398145.2	1.000000	0.190000	6.200000e-01	2.900000e-01	0.410000	0.471111	0.410000	0.380000																										0				32						c.(1657-1659)Ctg>Atg		Hermansky-Pudlak syndrome 4							59.0	53.0	55.0					22																	26859939		2203	4300	6503	SO:0001583	missense	89781	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr22:26859939G>T		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.1657C>A	chr22.hg19:g.26859939G>T	ENSP00000381213:p.Leu553Met	0					HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M	p.L553M	NM_022081.5	NP_071364.4	1	2	3	2.015224	Q9NQG7	HPS4_HUMAN		11	2273	-			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	1	1	hg19	c.1657C>A	CCDS13835.1	0	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407513	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.27	4.25	0.50352	5.27	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.47893	0.1470	M	0.77103	2.36	0.30626	N	0.758025	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;0.999;0.999;0.999;1.0;0.999	T	0.52601	-0.8554	10	0.87932	D	0	-12.515	8.5227	0.33287	0.176:0.0:0.824:0.0	.	553;553;553;553;566;548	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	M	553;566;548;553	ENSP00000381213:L553M;ENSP00000381210:L566M;ENSP00000384185:L548M;ENSP00000338457:L553M	ENSP00000338457:L553M	L	-	1	2	2	HPS4	25189939	25189939	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	2.519000	0.45546	2.461000	0.83175	0.655000	0.94253	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-10.044770	1	0.170000	NM_022081			9	9		271	265	0		1	1		0	0	59	0		9.937429e-01	6.487264e-01	0	2	0	64	0	9	271
HPS4	89781	broad.mit.edu	37	22	26860621	26860621	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	325					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)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ACAAGCATCCGTTCTCCTTCC	0.597									Hermansky-Pudlak syndrome																													ENST00000398145.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(973-975)aaC>aaT		Hermansky-Pudlak syndrome 4							95.0	87.0	90.0					22																	26860621		2203	4300	6503	SO:0001819	synonymous_variant	89781	1	121412	33	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr22:26860621G>A		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.975C>T	chr22.hg19:g.26860621G>A		0					HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N	p.N325N	NM_022081.5	NP_071364.4	1	2	3	2.015224	Q9NQG7	HPS4_HUMAN		11	1591	-			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	1	1	hg19	c.975C>T	CCDS13835.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_022081			85	85		379	377	0		1	1		0	0	112	0		1	9.999997e-01	0	28	0	71	0	85	379
HPS4	89781	broad.mit.edu	37	22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	255					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)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGACTAATGGCTTCCTCTTT	0.512									Hermansky-Pudlak syndrome																													ENST00000398145.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(763-765)gCc>gAc		Hermansky-Pudlak syndrome 4							134.0	117.0	123.0					22																	26861460		2203	4300	6503	SO:0001583	missense	89781	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr22:26861460G>T		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.764C>A	chr22.hg19:g.26861460G>T	ENSP00000381213:p.Ala255Asp	0					HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	p.A255D	NM_022081.5	NP_071364.4	1	2	3	2.015224	Q9NQG7	HPS4_HUMAN		10	1380	-			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	1	1	hg19	c.764C>A	CCDS13835.1	1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614690	0.28712	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.88741	1.36;-2.42;1.36;1.36;-2.42	4.6	1.76	0.24704	4.6	1.76	0.24704	.	1.063930	0.07167	N	0.851742	D	0.91026	0.7177	L	0.55481	1.735	0.09310	N	1	D;P;P;D;B;P	0.69078	0.997;0.944;0.944;0.997;0.413;0.944	D;P;P;D;B;P	0.64410	0.925;0.733;0.66;0.925;0.319;0.66	T	0.77640	-0.2512	10	0.36615	T	0.2	-6.8662	5.997	0.19499	0.4162:0.0:0.5838:0.0	.	255;255;255;255;268;250	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	255;268;250;255;273;273	ENSP00000381213:A255D;ENSP00000381210:A268D;ENSP00000384185:A250D;ENSP00000338457:A255D;ENSP00000415081:A273D	ENSP00000325840:A273D	A	-	2	0	0	HPS4	25191460	25191460	0.811000	0.29063	0.177000	0.23020	0.024000	0.10985	1.182000	0.32029	0.262000	0.21774	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_022081			60	60		277	271	1		1	1		0	0	67	0		1	9.999831e-01	0	28	0	49	0	60	277
SRRD	402055	broad.mit.edu	37	22	26887573	26887573	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.7	+	7	969	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	319					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443																																						ENST00000215917.7	1.000000	0.250000	6.800000e-01	3.400000e-01	0.470000	0.525161	0.470000	0.440000																										0				4						c.(955-957)Tat>Cat		SRR1 domain containing							78.0	75.0	76.0					22																	26887573		1886	4124	6010	SO:0001583	missense	402055	0	0					g.chr22:26887573T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.955T>C	chr22.hg19:g.26887573T>C	ENSP00000215917:p.Tyr319His	0					TFIP11_ENST00000407690.1_3'UTR	p.Y319H	NM_001013694.2	NP_001013716.2	1	2	3	2.015224	Q9UH36	SRR1L_HUMAN		7	969	+			Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	1	1	hg19	c.955T>C	CCDS42995.1	0	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089490	0.76756	.	.	ENSG00000100104	ENST00000215917	T	0.62788	-0.0	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83602	0.0129	10	0.87932	D	0	-21.2371	14.7198	0.69297	0.0:0.0:0.0:1.0	.	319;312	Q9UH36;B4DF37	SRR1L_HUMAN;.	H	319	ENSP00000215917:Y319H	ENSP00000215917:Y319H	Y	+	1	0	0	SRRD	25217573	25217573	1.000000	0.71417	0.036000	0.18154	0.989000	0.77384	5.459000	0.66685	2.251000	0.74343	0.528000	0.53228	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-13.277830	1	0.170000	NM_001013694			12	12		307	302	0		1	1		0	0	67	0		9.990762e-01	9.547591e-01	0	7	0	130	0	12	307
TFIP11	24144	broad.mit.edu	37	22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T	rs574318611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	791					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCCCAATGACGGGCATGAAG	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23169	0.0		0.0	False		,,,				2504	0.0					ENST00000407690.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2371-2373)Gtc>Atc		tuftelin interacting protein 11							129.0	89.0	103.0					22																	26888122		2203	4300	6503	SO:0001583	missense	24144	2	121412	37				g.chr22:26888122C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2371G>A	chr22.hg19:g.26888122C>T	ENSP00000384421:p.Val791Ile	0					SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I	p.V791I	NM_012143.2	NP_036275.1	1	2	3	2.015224	Q9UBB9	TFP11_HUMAN		15	2654	-			O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	1	1	hg19	c.2371G>A	CCDS13838.1	1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461641	0.04508	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	4.38	0.52667	5.39	4.38	0.52667	.	0.319967	0.34986	N	0.003532	T	0.19127	0.0459	N	0.03154	-0.405	0.36149	D	0.8473	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12426	-1.0548	10	0.28530	T	0.3	-46.7661	9.261	0.37612	0.0:0.7793:0.1446:0.0761	.	791;150	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	I	791;791;791;476;791	ENSP00000384421:V791I;ENSP00000383892:V791I;ENSP00000385861:V791I;ENSP00000384297:V791I	ENSP00000384297:V791I	V	-	1	0	0	TFIP11	25218122	25218122	0.151000	0.22747	0.899000	0.35326	0.894000	0.52154	0.442000	0.21628	1.515000	0.48885	-0.137000	0.14449	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_001008697			55	55		223	220	1		1	1		0	0	50	0		1	1	0	84	0	166	0	55	223
TFIP11	24144	broad.mit.edu	37	22	26902834	26902834	+	Silent	SNP	C	C	T	rs375849058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	90					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGCCTCCTCCGCTGCCCCTT	0.517																																						ENST00000407690.1	1.000000	0.820000	1	9.600000e-01	0.990000	0.982932	0.990000	1.000000																										0				25						c.(268-270)gcG>gcA		tuftelin interacting protein 11		C	,	1,4405	2.1+/-5.4	0,1,2202	88.0	81.0	84.0		270,270	-7.6	0.7	22		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	90/838,90/838	26902834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	24144	4	121412	38				g.chr22:26902834C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.270G>A	chr22.hg19:g.26902834C>T		0					TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.A90A	p.A90A	NM_012143.2	NP_036275.1	1	2	3	2.015224	Q9UBB9	TFP11_HUMAN		5	553	-			O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	1	1	hg19	c.270G>A	CCDS13838.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-2.920853	1	0.170000	NM_001008697			43	41		416	409	1		1	1		0	0	85	0		1	9.999989e-01	0	29	0	169	0	43	416
TPST2	8459	broad.mit.edu	37	22	26937351	26937351	+	Silent	SNP	C	C	T	rs200681170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000403880.1_Silent_p.T82T|TPST2_ENST00000398110.2_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	82					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCGCATCAACGTGGTGCCAC	0.672																																						ENST00000338754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(244-246)acG>acA		tyrosylprotein sulfotransferase 2							52.0	38.0	42.0					22																	26937351		2203	4290	6493	SO:0001819	synonymous_variant	8459	11	120688	39				g.chr22:26937351C>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.246G>A	chr22.hg19:g.26937351C>T		0					TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	p.T82T	NM_003595.3	NP_003586.3	1	2	3	2.015224	O60704	TPST2_HUMAN		3	516	-			B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	1	1	hg19	c.246G>A	CCDS13839.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_003595			42	42		160	158	1		1	1		0	0	36	0		1	9.924972e-01	0	5	0	27	0	42	160
CRYBA4	1413	broad.mit.edu	37	22	27021478	27021478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	64	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617																																						ENST00000354760.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(190-192)ggG>ggA		crystallin, beta A4							120.0	111.0	114.0					22																	27021478		2203	4300	6503	SO:0001819	synonymous_variant	1413	0	0					g.chr22:27021478G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.192G>A	chr22.hg19:g.27021478G>A		0					CRYBA4_ENST00000466315.1_3'UTR	p.G64G	NM_001886.2	NP_001877.1	1	2	3	2.015224	P53673	CRBA4_HUMAN		4	227	+			Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	1	1	hg19	c.192G>A	CCDS13841.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_001886			181	177		835	825	1		1			0	0	151	0		1	0	0	0	0	0	0	181	835
MN1	4330	broad.mit.edu	37	22	28193583	28193583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	983					intramembranous ossification (GO:0001957)					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						CGACGGCTGCGCCTGACGCTT	0.706			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	4330	T	meningioma (disrupted in balanced translocation) 1				"""L, O"""	L, O	ETV6		AML, meningioma		0				45						c.(2947-2949)ggC>ggT		meningioma (disrupted in balanced translocation) 1							8.0	11.0	10.0					22																	28193583		1947	4053	6000	SO:0001819	synonymous_variant	4330	0	0					g.chr22:28193583G>A	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.2949C>T	chr22.hg19:g.28193583G>A		0						p.G983G	NM_002430.2	NP_002421.3	1	2	3	2.015224	Q10571	MN1_HUMAN		1	3903	-			A9Z1V9	Silent	SNP	ENST00000302326.4	1	1	hg19	c.2949C>T	CCDS42998.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	1		2	2	2	0		0	0	29		29	24	1	2.060000	-20.000000	1	0.170000	NM_002430			28	27		128	126	0		1	0		0	0	29	0		1	0	0	0	0	1	0	28	128
MN1	4330	broad.mit.edu	37	22	28193973	28193973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853					intramembranous ossification (GO:0001957)					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						TGCCCTCTGGCGGGTTCTTCT	0.652			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	4330	T	meningioma (disrupted in balanced translocation) 1				"""L, O"""	L, O	ETV6		AML, meningioma		0				45						c.(2557-2559)ccG>ccA		meningioma (disrupted in balanced translocation) 1							72.0	79.0	77.0					22																	28193973		1886	4093	5979	SO:0001819	synonymous_variant	4330	2	120828	33				g.chr22:28193973C>T	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.2559G>A	chr22.hg19:g.28193973C>T		0						p.P853P	NM_002430.2	NP_002421.3	1	2	3	2.015224	Q10571	MN1_HUMAN		1	3513	-			A9Z1V9	Silent	SNP	ENST00000302326.4	1	1	hg19	c.2559G>A	CCDS42998.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	1		2	2	2	1		1	0	130		130	121	1	2.060000	-3.263969	1	0.170000	NM_002430			163	160		676	660	0		1	0		1	0	130	0		1	9.054703e-01	0	1	0	18	0	163	676
MN1	4330	broad.mit.edu	37	22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480					intramembranous ossification (GO:0001957)					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						TCCAGAGCGCCGTTGTGCATG	0.682			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	4330	T	meningioma (disrupted in balanced translocation) 1				"""L, O"""	L, O	ETV6		AML, meningioma		0				45						c.(1438-1440)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							16.0	20.0	19.0					22																	28195094		2115	4230	6345	SO:0001583	missense	4330	0	0					g.chr22:28195094C>T	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.1438G>A	chr22.hg19:g.28195094C>T	ENSP00000304956:p.Gly480Ser	0						p.G480S	NM_002430.2	NP_002421.3	1	2	3	2.015224	Q10571	MN1_HUMAN		1	2392	-			A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	1	1	hg19	c.1438G>A	CCDS42998.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100381	0.56183	.	.	ENSG00000169184	ENST00000302326	T	0.45668	0.89	4.54	4.54	0.55810	4.54	4.54	0.55810	.	0.220885	0.31156	N	0.008158	T	0.21962	0.0529	N	0.14661	0.345	0.27568	N	0.94996	P	0.38300	0.626	B	0.29267	0.1	T	0.10520	-1.0626	10	0.25751	T	0.34	-14.7531	12.6665	0.56846	0.0:0.8326:0.1674:0.0	.	480	Q10571	MN1_HUMAN	S	480	ENSP00000304956:G480S	ENSP00000304956:G480S	G	-	1	0	0	MN1	26525094	26525094	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	2.263000	0.43293	2.074000	0.62210	0.313000	0.20887	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	NM_002430			28	25		134	133	0		1	0		0	0	33	0		1	8.157965e-01	0	0	0	17	0	28	134
MN1	4330	broad.mit.edu	37	22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	69					intramembranous ossification (GO:0001957)					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						GCGTGGAAGCCGTAGGGCTCC	0.701			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	4330	T	meningioma (disrupted in balanced translocation) 1				"""L, O"""	L, O	ETV6		AML, meningioma		0				45						c.(205-207)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							29.0	34.0	33.0					22																	28196327		1952	4121	6073	SO:0001583	missense	4330	0	0					g.chr22:28196327C>T	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.205G>A	chr22.hg19:g.28196327C>T	ENSP00000304956:p.Gly69Ser	0						p.G69S	NM_002430.2	NP_002421.3	1	2	3	2.015224	Q10571	MN1_HUMAN		1	1159	-			A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	1	1	hg19	c.205G>A	CCDS42998.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697807	0.88830	.	.	ENSG00000169184	ENST00000302326	T	0.72725	-0.68	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.060842	0.64402	D	0.000004	T	0.75191	0.3816	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.63033	0.91	T	0.78947	-0.2003	10	0.87932	D	0	-15.6058	16.9428	0.86222	0.0:1.0:0.0:0.0	.	69	Q10571	MN1_HUMAN	S	69	ENSP00000304956:G69S	ENSP00000304956:G69S	G	-	1	0	0	MN1	26526327	26526327	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.882000	0.63121	2.400000	0.81607	0.561000	0.74099	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_002430			68	68		289	286	0		1	0		0	0	58	0		1	5.970391e-01	0	1	0	9	0	68	289
MN1	4330	broad.mit.edu	37	22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	17					intramembranous ossification (GO:0001957)					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						CTCGCCCTGGCCAGCGTTCCT	0.622			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4	1.000000	0.210000	6.300000e-01	3.000000e-01	0.420000	0.482965	0.420000	0.390000				Dom	yes			Dom	yes		22	22q13	22q13	4330	T	meningioma (disrupted in balanced translocation) 1				"""L, O"""	L, O	ETV6		AML, meningioma		0				45						c.(49-51)gGc>gAc		meningioma (disrupted in balanced translocation) 1							56.0	61.0	59.0					22																	28196482		2001	4167	6168	SO:0001583	missense	4330	0	0					g.chr22:28196482C>T	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.50G>A	chr22.hg19:g.28196482C>T	ENSP00000304956:p.Gly17Asp	0						p.G17D	NM_002430.2	NP_002421.3	1	2	3	2.015224	Q10571	MN1_HUMAN		1	1004	-			A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	1	1	hg19	c.50G>A	CCDS42998.1	0	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889768	0.72524	.	.	ENSG00000169184	ENST00000302326	T	0.72051	-0.62	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.060889	0.64402	D	0.000005	T	0.74959	0.3785	L	0.27053	0.805	0.53005	D	0.99996	D	0.67145	0.996	D	0.67725	0.953	T	0.79220	-0.1893	10	0.87932	D	0	-16.2213	16.3356	0.83059	0.0:1.0:0.0:0.0	.	17	Q10571	MN1_HUMAN	D	17	ENSP00000304956:G17D	ENSP00000304956:G17D	G	-	2	0	0	MN1	26526482	26526482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.249000	0.74217	0.462000	0.41574	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-10.718120	1	0.170000	NM_002430			10	10		289	285	0		1	0		0	0	53	0		9.968002e-01	1.054247e-01	0	0	0	15	0	10	289
PITPNB	23760	broad.mit.edu	37	22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	171					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)			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488																																						ENST00000335272.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(511-513)gGc>gAc		phosphatidylinositol transfer protein, beta							87.0	74.0	78.0					22																	28269748		2203	4300	6503	SO:0001583	missense	23760	0	0					g.chr22:28269748C>T	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.512G>A	chr22.hg19:g.28269748C>T	ENSP00000334738:p.Gly171Asp	0					PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	p.G171D	NM_012399.3	NP_036531.1	1	2	3	2.015224	P48739	PIPNB_HUMAN		8	588	-			B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	1	1	hg19	c.512G>A	CCDS13842.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344218	0.82022	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.7	4.68	0.58851	5.7	4.68	0.58851	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.96861	3.895	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	0.89831	0.3996	10	0.87932	D	0	-30.9357	13.5209	0.61568	0.0:0.9246:0.0:0.0754	.	173;171;171	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	D	171;171;173;98	ENSP00000334738:G171D;ENSP00000321266:G171D;ENSP00000405179:G173D;ENSP00000406542:G98D	ENSP00000321266:G171D	G	-	2	0	0	PITPNB	26599748	26599748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.410000	0.46936	0.655000	0.94253	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				36	35		131	127	1		1	1		0	0	47	0		1	1	0	66	0	193	0	36	131
CCDC117	150275	broad.mit.edu	37	22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29182081C>T	ENST00000249064.4	+	5	783	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C|CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C	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	203										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCTTAGGAGCCGTCCTTCCAT	0.398																																						ENST00000249064.4	1.000000	0.270000	7.200000e-01	3.700000e-01	0.500000	0.554626	0.500000	0.470000																										0				7						c.(607-609)Cgt>Tgt		coiled-coil domain containing 117							66.0	67.0	67.0					22																	29182081		2203	4300	6503	SO:0001583	missense	150275	1	121412	34				g.chr22:29182081C>T	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.607C>T	chr22.hg19:g.29182081C>T	ENSP00000249064:p.Arg203Cys	0					CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C	p.R203C	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	1	2	3	2.015224	Q8IWD4	CC117_HUMAN		5	783	+			A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	1	1	hg19	c.607C>T	CCDS13846.1	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667348	0.88348	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.057185	0.64402	D	0.000001	T	0.34745	0.0908	L	0.34521	1.04	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	0.02269	-1.1185	10	0.87932	D	0	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	128;185;203	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	C	203;185;128;71	ENSP00000249064:R203C;ENSP00000389478:R185C;ENSP00000387827:R128C;ENSP00000399363:R71C	ENSP00000249064:R203C	R	+	1	0	0	CCDC117	27512081	27512081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.816000	0.96949	0.561000	0.74099	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-2.960920	1	0.170000	NM_173510			12	12		286	279	0		1	1		0	0	44	0		9.990364e-01	8.928828e-01	0	7	0	89	0	12	286
ZNRF3	84133	broad.mit.edu	37	22	29445738	29445738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29445738C>T	ENST00000544604.2	+	8	1744	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000332811.4_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	523					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACCTGGAGAGCGGCAGCACGT	0.711																																						ENST00000544604.2	1.000000	0.240000	8.000000e-01	3.600000e-01	0.530000	0.574765	0.530000	0.470000																										0				28						c.(1567-1569)agC>agT		zinc and ring finger 3							15.0	16.0	16.0					22																	29445738		2082	4198	6280	SO:0001819	synonymous_variant	84133	0	0					g.chr22:29445738C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1569C>T	chr22.hg19:g.29445738C>T		0					ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000332811.4_Silent_p.S423S	p.S523S	NM_001206998.1	NP_001193927.1	1	2	3	2.015224	Q9ULT6	ZNRF3_HUMAN		8	1744	+			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	0	1	hg19	c.1569C>T	CCDS56225.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-10.440890	1	0.170000	XM_290972			8	8		187	185	0		1	0		0	0	30	0		9.893773e-01	6.666929e-03	0	0	0	3	0	8	187
ZNRF3	84133	broad.mit.edu	37	22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	711					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCGTCGTGTGCCTGCTGCTG	0.697																																						ENST00000544604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2131-2133)Gcc>Acc		zinc and ring finger 3							10.0	12.0	11.0					22																	29446300		1936	4099	6035	SO:0001583	missense	84133	0	0					g.chr22:29446300G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2131G>A	chr22.hg19:g.29446300G>A	ENSP00000443824:p.Ala711Thr	0					ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T	p.A711T	NM_001206998.1	NP_001193927.1	1	2	3	2.015224	Q9ULT6	ZNRF3_HUMAN		8	2306	+			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	1	1	hg19	c.2131G>A	CCDS56225.1	1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039167	0.19669	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.01	-0.87	0.10646	5.01	-0.87	0.10646	.	0.391529	0.31721	N	0.007180	T	0.71108	0.3301	L	0.45581	1.43	0.26122	N	0.980535	B	0.18863	0.031	B	0.13407	0.009	T	0.56214	-0.8016	10	0.26408	T	0.33	-15.1449	6.8353	0.23933	0.2316:0.2021:0.5663:0.0	.	711	Q9ULT6	ZNRF3_HUMAN	T	711;611;418;611;611	ENSP00000443824:A711T;ENSP00000328614:A611T;ENSP00000384456:A611T;ENSP00000384553:A611T	ENSP00000328614:A611T	A	+	1	0	0	ZNRF3	27776300	27776300	0.995000	0.38212	0.990000	0.47175	0.411000	0.31082	1.868000	0.39509	0.515000	0.28320	-0.140000	0.14226	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	1		2	2	2	0		0	0	36		36	32	1	2.060000	-20.000000	1	0.170000	XM_290972			38	38		148	144	0		1	1		0	0	36	0		1	5.809434e-01	0	3	0	6	0	38	148
ZNRF3	84133	broad.mit.edu	37	22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	753					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCCAGTCAGGAAGCTCCCA	0.657																																						ENST00000544604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2257-2259)Gga>Aga		zinc and ring finger 3							13.0	15.0	14.0					22																	29446426		1851	4004	5855	SO:0001583	missense	84133	0	0					g.chr22:29446426G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2257G>A	chr22.hg19:g.29446426G>A	ENSP00000443824:p.Gly753Arg	0					ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R	p.G753R	NM_001206998.1	NP_001193927.1	1	2	3	2.015224	Q9ULT6	ZNRF3_HUMAN		8	2432	+			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	1	1	hg19	c.2257G>A	CCDS56225.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664858	0.29604	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.07	4.05	0.47172	5.07	4.05	0.47172	.	0.507057	0.20123	N	0.098748	T	0.80649	0.4663	L	0.51422	1.61	0.20489	N	0.999896	D	0.61697	0.99	P	0.58780	0.845	T	0.71497	-0.4575	10	0.87932	D	0	-6.7721	9.2661	0.37641	0.1644:0.0:0.8356:0.0	.	753	Q9ULT6	ZNRF3_HUMAN	R	753;653;460;653;653	ENSP00000443824:G753R;ENSP00000328614:G653R;ENSP00000384456:G653R;ENSP00000384553:G653R	ENSP00000328614:G653R	G	+	1	0	0	ZNRF3	27776426	27776426	0.999000	0.42202	0.053000	0.19242	0.075000	0.17131	3.091000	0.50199	1.267000	0.44247	0.655000	0.94253	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	XM_290972			50	48		169	166	0		1	1		0	0	54	0		1	7.037769e-01	0	3	0	7	0	50	169
C22orf31	25770	broad.mit.edu	37	22	29455169	29455169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	145										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACTTTCTTTACTCTAGCCAGG	0.458																																						ENST00000216071.4	1.000000	0.310000	7.000000e-01	4.000000e-01	0.520000	0.565928	0.520000	0.490000																										0				27						c.(433-435)aGt>aAt		chromosome 22 open reading frame 31							72.0	69.0	70.0					22																	29455169		2203	4300	6503	SO:0001630	splice_region_variant	25770	0	0					g.chr22:29455169C>T	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.433-1G>A	chr22.hg19:g.29455169C>T		0						p.S145N	NM_015370.1	NP_056185.1	1	2	3	2.015224	O95567	CV031_HUMAN		3	485	-			A0AV97	Splice_Site	SNP	ENST00000216071.4	0	1	hg19	c.434G>A	CCDS13848.1	0	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768448	0.49680	.	.	ENSG00000100249	ENST00000216071	T	0.37058	1.22	5.64	4.63	0.57726	5.64	4.63	0.57726	.	0.427481	0.24094	N	0.041604	T	0.27169	0.0666	L	0.27053	0.805	0.27086	N	0.962966	B	0.19073	0.033	B	0.26202	0.067	T	0.18272	-1.0342	10	0.45353	T	0.12	-2.0501	10.3455	0.43903	0.0:0.9126:0.0:0.0874	.	145	O95567	CV031_HUMAN	N	145	ENSP00000216071:S145N	ENSP00000216071:S145N	S	-	2	0	0	C22orf31	27785169	27785169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.988000	0.40697	1.628000	0.50416	0.650000	0.86243	AGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-18.138620	1	0.170000	NM_015370	Missense_Mutation		18	18		410	405	0		1			0	0	78	0		9.999810e-01	0	0	0	0	0	0	18	410
KREMEN1	83999	broad.mit.edu	37	22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000407188.1	+	4	359	c.359T>G	c.(358-360)cTt>cGt	p.L120R	KREMEN1_ENST00000400338.2_Missense_Mutation_p.L122R|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	120	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423																																						ENST00000407188.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(358-360)cTt>cGt		kringle containing transmembrane protein 1							91.0	92.0	92.0					22																	29517357		2100	4230	6330	SO:0001583	missense	83999	0	0					g.chr22:29517357T>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.359T>G	chr22.hg19:g.29517357T>G	ENSP00000385431:p.Leu120Arg	0					KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400338.2_Missense_Mutation_p.L122R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R	p.L120R			1	2	3	2.015224	Q96MU8	KREM1_HUMAN		4	359	+			B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	1	1	hg19	c.359T>G	CCDS43000.2	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134638	0.77662	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.14	5.14	0.70334	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle (1);Kringle-like fold (1);	0.000000	0.52532	D	0.000065	T	0.74291	0.3697	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.73720	-0.3894	10	0.31617	T	0.26	.	13.2238	0.59903	0.0:0.0:0.0:1.0	.	120;122;122	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	R	122;122;122;120	ENSP00000383189:L122R;ENSP00000383192:L122R;ENSP00000331242:L122R;ENSP00000385431:L120R	ENSP00000331242:L122R	L	+	2	0	0	KREMEN1	27847357	27847357	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.474000	0.81024	2.075000	0.62263	0.460000	0.39030	CTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				99	99		414	402	1		1	1		0	0	81	0		1	9.979403e-01	0	9	0	32	0	99	414
KREMEN1	83999	broad.mit.edu	37	22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000407188.1	+	6	931	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	KREMEN1_ENST00000400338.2_Missense_Mutation_p.A313T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	311	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532																																						ENST00000407188.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(931-933)Gcc>Acc		kringle containing transmembrane protein 1							68.0	66.0	67.0					22																	29533635		1948	4138	6086	SO:0001583	missense	83999	0	0					g.chr22:29533635G>A	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.931G>A	chr22.hg19:g.29533635G>A	ENSP00000385431:p.Ala311Thr	0					KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A313T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T	p.A311T			1	2	3	2.015224	Q96MU8	KREM1_HUMAN		6	931	+			B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	1	1	hg19	c.931G>A	CCDS43000.2	1	.	.	.	.	.	.	.	.	.	.	G	31	5.079085	0.94050	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	4.99	0.66335	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000009	T	0.45617	0.1351	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.993	T	0.38950	-0.9637	10	0.59425	D	0.04	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	311;313;313	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	T	313;313;313;311	ENSP00000383189:A313T;ENSP00000383192:A313T;ENSP00000331242:A313T;ENSP00000385431:A311T	ENSP00000331242:A313T	A	+	1	0	0	KREMEN1	27863635	27863635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.507000	0.84556	0.467000	0.42956	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				36	36		172	167	1		1	1		0	0	47	0		1	9.905577e-01	0	15	0	22	0	36	172
EWSR1	2130	broad.mit.edu	37	22	29674083	29674083	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCACTGGTGCTTATGATACCA	0.552			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q12	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)				"""L, M"""	L, M	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1		Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				26						c.(289-291)gcT>gcG		EWS RNA-binding protein 1							46.0	45.0	45.0					22																	29674083		2203	4296	6499	SO:0001819	synonymous_variant	2130	0	0					g.chr22:29674083T>G		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.291T>G	chr22.hg19:g.29674083T>G		0					EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A	p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	1	2	3	2.015224	Q01844	EWS_HUMAN		5	610	+			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	1	1	hg19	c.291T>G	CCDS13851.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_005243			49	48		175	171	1		1	1		0	0	39	0		1	1	0	131	0	311	0	49	175
EWSR1	2130	broad.mit.edu	37	22	29678381	29678381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	ENST00000397938.2	+	6	735	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000332035.6_Intron	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	139	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCTTAGACCGCAGGATGGA	0.423			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.990869	0.990000	1.000000				Dom	yes			Dom	yes		22	22q12	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)				"""L, M"""	L, M	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1		Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				26						c.(415-417)cCg>cTg		EWS RNA-binding protein 1							31.0	27.0	28.0					22																	29678381		2203	4299	6502	SO:0001583	missense	2130	4	121352	34				g.chr22:29678381C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.416C>T	chr22.hg19:g.29678381C>T	ENSP00000381031:p.Pro139Leu	0					EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L	p.P139L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	1	2	3	2.015224	Q01844	EWS_HUMAN		6	735	+			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	0	1	hg19	c.416C>T	CCDS13851.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351763	0.41700	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395	D;D;D;D;D	0.96967	-3.93;-3.46;-3.63;-4.19;-3.65	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.225469	0.29253	U	0.012683	D	0.96676	0.8915	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.913;0.996;0.913;0.96	D	0.97243	0.9892	10	0.52906	T	0.07	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	139;145;139;139	Q96FE8;Q96MX4;Q01844;Q9BWA2	.;.;EWS_HUMAN;.	L	139;139;146;145;139;140;64;139;145;139	ENSP00000330896:P139L;ENSP00000381031:P139L;ENSP00000385726:P139L;ENSP00000330516:P139L;ENSP00000400142:P145L	ENSP00000330516:P139L	P	+	2	0	0	EWSR1	28008381	28008381	1.000000	0.71417	0.969000	0.41365	0.242000	0.25591	5.583000	0.67484	2.490000	0.84030	0.557000	0.71058	CCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-8.261610	1	0.170000	NM_005243			11	10		73	73	1		1	1		0	0	17	0		9.986236e-01	1	0	91	0	312	0	11	73
AP1B1	162	broad.mit.edu	37	22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000405198.1	-	17	2357	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	776					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667																																						ENST00000405198.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2326-2328)Gcc>Acc		adaptor-related protein complex 1, beta 1 subunit							31.0	33.0	33.0					22																	29727889		2202	4300	6502	SO:0001583	missense	162	2	121398	31				g.chr22:29727889C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2326G>A	chr22.hg19:g.29727889C>T	ENSP00000384194:p.Ala776Thr	0					AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T	p.A776T			1	2	3	2.015224	Q10567	AP1B1_HUMAN		17	2357	-			C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	1	1	hg19	c.2326G>A	CCDS13855.1	1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842665	0.32606	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.58	3.57	0.40892	4.58	3.57	0.40892	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.098822	0.64402	N	0.000001	T	0.48132	0.1483	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.19073	0.028;0.005;0.005;0.033;0.012	B;B;B;B;B	0.19946	0.027;0.013;0.013;0.021;0.013	T	0.49570	-0.8926	10	0.44086	T	0.13	-20.8288	12.3414	0.55095	0.0:0.917:0.0:0.083	.	329;749;769;776;769	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	T	776;769;769;776;749;769;769	ENSP00000350199:A776T;ENSP00000348297:A769T;ENSP00000400065:A769T;ENSP00000384194:A776T;ENSP00000319361:A749T;ENSP00000386071:A769T;ENSP00000387612:A769T	ENSP00000319361:A749T	A	-	1	0	0	AP1B1	28057889	28057889	0.986000	0.35501	1.000000	0.80357	0.013000	0.08279	2.087000	0.41653	1.167000	0.42706	-0.258000	0.10820	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	1	0	0		2	2	2	0		0	0	48		48	45	1	2.060000	-3.655162	1	0.170000	NM_001127			66	67		248	246	1		1	1		0	0	48	0		1	1	0	41	0	364	0	66	248
RFPL1	5988	broad.mit.edu	37	22	29835141	29835141	+	Missense_Mutation	SNP	C	C	T	rs142648482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29835141C>T	ENST00000354373.2	+	1	570	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	121	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCAAGGATGCGGAAGTTCCA	0.517													-|||	3	0.000599042	0.0015	0.0	5008	,	,		19438	0.001		0.0	False		,,,				2504	0.0					ENST00000354373.2	1.000000	0.130000	3.600000e-01	1.800000e-01	0.240000	0.323821	0.240000	0.230000																										0				16						c.(361-363)Cgg>Tgg		ret finger protein-like 1		C	TRP/ARG	16,4390		0,16,2187	122.0	116.0	118.0		361	-2.0	0.0	22	dbSNP_134	118	0,8600		0,0,4300	yes	missense	RFPL1	NM_021026.2	101	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	probably-damaging	121/318	29835141	16,12990	2203	4300	6503	SO:0001583	missense	5988	50	121412	51				g.chr22:29835141C>T	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.361C>T	chr22.hg19:g.29835141C>T	ENSP00000346342:p.Arg121Trp	0					RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	p.R121W	NM_021026.2	NP_066306.2	1	2	3	2.015224	O75677	RFPL1_HUMAN		1	570	+			Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	0	1	hg19	c.361C>T	CCDS13857.2	0	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	12.19	1.864452	0.32977	0.003631	0.0	ENSG00000128250	ENST00000354373	T	0.29397	1.57	1.66	-1.98	0.07480	1.66	-1.98	0.07480	Concanavalin A-like lectin/glucanase (1);RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21881	0.0527	L	0.41824	1.3	0.09310	N	1	P	0.38863	0.65	B	0.40565	0.333	T	0.17471	-1.0368	9	0.66056	D	0.02	.	2.496	0.04621	0.2789:0.5142:0.0:0.2068	.	121	O75677	RFPL1_HUMAN	W	121	ENSP00000346342:R121W	ENSP00000346342:R121W	R	+	1	2	2	RFPL1	28165141	28165141	0.000000	0.05858	0.001000	0.08648	0.503000	0.33858	-1.324000	0.02690	-0.584000	0.05913	0.418000	0.28097	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	0	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-2.462064	0	0.170000	NM_021026			13	13		642	630	0		1	0		0	0	142	0		9.994759e-01	4.626313e-03	0	0	0	5	0	13	642
NEFH	4744	broad.mit.edu	37	22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	394	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)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCAAGATGGCTCTGGATATA	0.547																																						ENST00000310624.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1180-1182)gCt>gTt		neurofilament, heavy polypeptide							89.0	78.0	82.0					22																	29881809		2203	4300	6503	SO:0001583	missense	4744	2	121412	32				g.chr22:29881809C>T		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.1181C>T	chr22.hg19:g.29881809C>T	ENSP00000311997:p.Ala394Val	0						p.A394V	NM_021076.3	NP_066554.2	1	2	3	2.015224	P12036	NFH_HUMAN		3	1214	+			B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	1	1	hg19	c.1181C>T	CCDS13858.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90900	-2.75	5.67	5.67	0.87782	5.67	5.67	0.87782	Filament (1);	0.278833	0.25720	N	0.028746	D	0.96728	0.8932	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97172	0.9845	10	0.87932	D	0	.	19.8245	0.96612	0.0:1.0:0.0:0.0	.	394	P12036	NFH_HUMAN	V	394	ENSP00000311997:A394V	ENSP00000311997:A394V	A	+	2	0	0	NEFH	28211809	28211809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.692000	0.91855	0.650000	0.86243	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.278972	1	0.170000	NM_021076			53	52		254	244	1		1	0		0	0	68	0		1	8.185007e-02	0	0	0	3	0	53	254
NEFH	4744	broad.mit.edu	37	22	29886650	29886650	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	1013	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACAGCAAGCCTCCAGAGAAGG	0.517																																						ENST00000310624.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(3019-3021)ccT>ccA		neurofilament, heavy polypeptide							32.0	34.0	33.0					22																	29886650		2202	4300	6502	SO:0001819	synonymous_variant	4744	0	0					g.chr22:29886650T>A		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.3021T>A	chr22.hg19:g.29886650T>A		0						p.P1007P	NM_021076.3	NP_066554.2	1	2	3	2.015224	P12036	NFH_HUMAN		4	3054	+			B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	1	1	hg19	c.3021T>A	CCDS13858.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_021076			52	49		176	170	1		1	0		0	0	50	0		1	7.031618e-01	0	0	0	10	0	52	176
THOC5	8563	broad.mit.edu	37	22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A	rs367583357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	508					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAGAGGTACTGGCAATCAC	0.478																																						ENST00000490103.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(1522-1524)caG>caT		THO complex 5							128.0	102.0	111.0					22																	29913321		2203	4300	6503	SO:0001583	missense	8563	0	0					g.chr22:29913321C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1524G>T	chr22.hg19:g.29913321C>A	ENSP00000420306:p.Gln508His	0					THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H	p.Q508H	NM_003678.4	NP_003669.4	1	2	3	2.015224	Q13769	THOC5_HUMAN		16	1646	-			O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	1	1	hg19	c.1524G>T	CCDS13859.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957691	0.73902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	3.67	0.42095	5.81	3.67	0.42095	.	0.152728	0.64402	N	0.000015	T	0.32971	0.0847	M	0.62723	1.935	0.51482	D	0.999928	D	0.56521	0.976	P	0.49999	0.628	T	0.04229	-1.0967	10	0.44086	T	0.13	-26.8255	9.7427	0.40429	0.0:0.661:0.269:0.07	.	508	Q13769	THOC5_HUMAN	H	508	ENSP00000420306:Q508H;ENSP00000380970:Q508H;ENSP00000380969:Q508H;ENSP00000380971:Q508H	ENSP00000380969:Q508H	Q	-	3	2	2	THOC5	28243321	28243321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.752000	0.32923	0.655000	0.94253	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_003678			28	28		104	103	1		1	1		0	0	35	0		1	9.999967e-01	0	14	0	67	0	28	104
ZMAT5	55954	broad.mit.edu	37	22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T	rs540359346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000344318.3	-	2	151	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	12					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGGAAGGAGCGGTCGCAGTA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18808	0.001		0.0	False		,,,				2504	0.0					ENST00000344318.3	1.000000	0.700000	1	8.600000e-01	0.990000	0.952483	0.990000	1.000000																										0				3						c.(34-36)cGc>cAc		zinc finger, matrin-type 5							154.0	124.0	134.0					22																	30144499		2203	4300	6503	SO:0001583	missense	55954	0	0					g.chr22:30144499C>T		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.35G>A	chr22.hg19:g.30144499C>T	ENSP00000344241:p.Arg12His	0					ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	p.R12H	NM_001003692.1	NP_001003692.1	1	2	3	2.015224	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)	2	151	-			A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	0	1	hg19	c.35G>A	CCDS13868.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.320312	0.95682	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81127	-0.1074	9	0.72032	D	0.01	-32.7094	16.2369	0.82380	0.0:1.0:0.0:0.0	.	12	Q9UDW3	ZMAT5_HUMAN	H	12	.	ENSP00000344241:R12H	R	-	2	0	0	ZMAT5	28474499	28474499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.518000	0.84900	0.511000	0.50034	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	0	0	1		18	12	2	1		1	1	57		57	57	1	2.060000	-9.509459	1	0.170000	NM_019103			27	27		284	283	1		1	1		1	0	57	0		9.368239e-01	8.102336e-01	0	25	0	151	0	27	284
ASCC2	84164	broad.mit.edu	37	22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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)			TCTGCCTTCTCTCTCAGCACT	0.587																																						ENST00000397771.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(2059-2061)Gag>Tag		activating signal cointegrator 1 complex subunit 2							57.0	51.0	53.0					22																	30186501		2203	4300	6503	SO:0001587	stop_gained	84164	0	0					g.chr22:30186501C>A	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.2059G>T	chr22.hg19:g.30186501C>A	ENSP00000380877:p.Glu687*	0					ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*	p.E687*			1	2	3	2.015224	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)	20	2236	-			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	0	1	hg19	c.2059G>T	CCDS13869.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.817971	0.98507	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-30.8065	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	687;687;611	.	ENSP00000305502:E687X	E	-	1	0	0	ASCC2	28516501	28516501	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.714000	0.74692	2.713000	0.92767	0.655000	0.94253	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.914721	1	0.170000	NM_032204			41	39		210	209	1		1	1		0	0	55	0		1	1	0	46	0	196	0	41	210
ASCC2	84164	broad.mit.edu	37	22	30212055	30212055	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000307790.3_Silent_p.I183I|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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)			GCTGTGTAAAGATGTTTCCTA	0.512																																						ENST00000397771.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.996362	0.990000	1.000000																										0				18						c.(547-549)atC>atA		activating signal cointegrator 1 complex subunit 2							112.0	98.0	103.0					22																	30212055		2203	4299	6502	SO:0001819	synonymous_variant	84164	0	0					g.chr22:30212055G>T	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.549C>A	chr22.hg19:g.30212055G>T		0					ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I|ASCC2_ENST00000542393.1_Silent_p.I107I	p.I183I			1	2	3	2.015224	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)	7	726	-			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	0	1	hg19	c.549C>A	CCDS13869.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-17.704260	1	0.170000	NM_032204			9	9		43	42	1		1	1		0	0	12	0		9.951997e-01	9.999486e-01	0	40	0	72	0	9	43
LIF	3976	broad.mit.edu	37	22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000608354.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	59					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532																																						ENST00000249075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(175-177)gCc>gTc		leukemia inhibitory factor							167.0	144.0	152.0					22																	30640766		2203	4300	6503	SO:0001583	missense	3976	0	0					g.chr22:30640766G>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.176C>T	chr22.hg19:g.30640766G>A	ENSP00000249075:p.Ala59Val	0					RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000593843.1_RNA	p.A59V	NM_002309.4	NP_002300.1	1	2	3	2.015224	P15018	LIF_HUMAN	Epithelial(10;0.171)	2	331	-			B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	1	1	hg19	c.176C>T	CCDS13872.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735491	0.89482	.	.	ENSG00000128342	ENST00000249075	T	0.80393	-1.37	4.56	4.56	0.56223	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.56097	D	0.000031	D	0.88760	0.6524	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90180	0.4242	10	0.87932	D	0	-38.7843	14.432	0.67257	0.0:0.0:1.0:0.0	.	59	P15018	LIF_HUMAN	V	59	ENSP00000249075:A59V	ENSP00000249075:A59V	A	-	2	0	0	LIF	28970766	28970766	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.574000	0.53863	2.226000	0.72624	0.563000	0.77884	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_002309			57	57		224	223	1		1	1		0	0	58	0		1	9.999664e-01	0	18	0	45	0	57	224
TBC1D10A	83874	broad.mit.edu	37	22	30689795	30689795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		TBC1D10A_ENST00000403477.3_Splice_Site|RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A						activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612																																						ENST00000215790.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e8-1		TBC1 domain family, member 10A							45.0	48.0	47.0					22																	30689795		2203	4300	6503	SO:0001630	splice_region_variant	83874	0	0					g.chr22:30689795C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.896-1G>A	chr22.hg19:g.30689795C>T		0					RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site|TBC1D10A_ENST00000403477.3_Splice_Site		NM_031937.2	NP_114143.1	1	2	3	2.015224	Q9BXI6	TB10A_HUMAN		8	1060	-			B3KXT8|O76053|Q20WK7|Q543A2	Splice_Site	SNP	ENST00000215790.7	1	1	hg19		CCDS13874.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279871	0.80692	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2857	0.90113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TBC1D10A;RP1-130H16.18	29019795	29019795	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.037000	0.70956	2.746000	0.94184	0.561000	0.74099	.	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.983521	1	0.170000	NM_031937	Intron		72	71		334	327	1		1	0		0	0	60	0		1	0	0	0	0	1	0	72	334
SF3A1	10291	broad.mit.edu	37	22	30735152	30735152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	488					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCCTCACCGATCTTCTTAC	0.517																																						ENST00000215793.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1462-1464)atC>atT		splicing factor 3a, subunit 1, 120kDa							260.0	204.0	223.0					22																	30735152		2203	4300	6503	SO:0001819	synonymous_variant	10291	1	121412	34				g.chr22:30735152G>A	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.1464C>T	chr22.hg19:g.30735152G>A		0					SF3A1_ENST00000439242.1_Silent_p.I423I	p.I488I	NM_005877.4	NP_005868.1	1	2	3	2.015224	Q15459	SF3A1_HUMAN		10	1618	-			E9PAW1	Silent	SNP	ENST00000215793.8	1	1	hg19	c.1464C>T	CCDS13875.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-20.000000	1	0.170000	NM_005877			142	138		694	682	1		1	1		0	0	145	0		1	1	0	89	0	249	0	142	694
SF3A1	10291	broad.mit.edu	37	22	30737858	30737858	+	Silent	SNP	G	G	T	rs36085017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000215793.8	-	7	1048	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SF3A1_ENST00000439242.1_Silent_p.P233P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	298					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGGCGTGGTGGGGGGAGGGA	0.572																																						ENST00000215793.8	1.000000	0.210000	6.200000e-01	3.000000e-01	0.420000	0.477979	0.420000	0.380000																										0				29						c.(892-894)ccC>ccA		splicing factor 3a, subunit 1, 120kDa							53.0	50.0	51.0					22																	30737858		2203	4300	6503	SO:0001819	synonymous_variant	10291	80	121412	51				g.chr22:30737858G>T	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.894C>A	chr22.hg19:g.30737858G>T		0					SF3A1_ENST00000439242.1_Silent_p.P233P	p.P298P	NM_005877.4	NP_005868.1	1	2	3	2.015224	Q15459	SF3A1_HUMAN		7	1048	-			E9PAW1	Silent	SNP	ENST00000215793.8	0	1	hg19	c.894C>A	CCDS13875.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-2.973759	1	0.170000	NM_005877			10	10		293	284	0		1	1		0	0	79	0		9.965157e-01	9.978923e-01	0	22	0	301	0	10	293
RNF215	200312	broad.mit.edu	37	22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	123						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637																																						ENST00000382363.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(367-369)cAg>cGg		ring finger protein 215							63.0	63.0	63.0					22																	30782666		2203	4300	6503	SO:0001583	missense	200312	0	0					g.chr22:30782666T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.368A>G	chr22.hg19:g.30782666T>C	ENSP00000371800:p.Gln123Arg	0						p.Q123R	NM_001017981.1	NP_001017981.1	1	2	3	2.015224	Q9Y6U7	RN215_HUMAN		2	442	-			A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	1	1	hg19	c.368A>G	CCDS33633.1	1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.18338	2.22	4.14	1.8	0.24995	4.14	1.8	0.24995	.	0.000000	0.31821	N	0.007003	T	0.09024	0.0223	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20438	-1.0275	10	0.37606	T	0.19	-0.0969	8.0584	0.30619	0.0:0.0:0.4105:0.5895	.	123	Q9Y6U7	RN215_HUMAN	R	123;28	ENSP00000371800:Q123R	ENSP00000371800:Q123R	Q	-	2	0	0	RNF215	29112666	29112666	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.145000	0.16157	0.199000	0.20427	0.529000	0.55759	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_001017981			74	72		314	308	1		1	1		0	0	79	0		1	9.999436e-01	0	21	0	42	0	74	314
SEC14L2	23541	broad.mit.edu	37	22	30805262	30805262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_ENST00000403484.1_Silent_p.A96A|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000402592.3_Silent_p.A87A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	170	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602																																						ENST00000312932.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(508-510)gcC>gcT		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						49.0	54.0	52.0					22																	30805262		2203	4300	6503	SO:0001819	synonymous_variant	23541	0	0					g.chr22:30805262C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.510C>T	chr22.hg19:g.30805262C>T		0					RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000403484.1_Silent_p.A96A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000402592.3_Silent_p.A87A	p.A170A	NM_012429.3	NP_036561.1	1	2	3	2.015224	O76054	S14L2_HUMAN		6	770	+			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	1	1	hg19	c.510C>T	CCDS13876.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_012429			59	58		198	192	1		1	1		0	0	38	0		1	1	0	33	0	74	0	59	198
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	374	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1120-1122)Gcc>Acc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	130.0	108.0	115.0		1120	-0.9	0.7	22	dbSNP_134	115	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SEC14L3	NM_174975.4	58	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	374/401	30856091	9,12997	2203	4300	6503	SO:0001583	missense	266629	29	121412	48				g.chr22:30856091C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1120G>A	chr22.hg19:g.30856091C>T	ENSP00000215812:p.Ala374Thr	0					SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron	p.A374T	NM_174975.4	NP_777635.1	1	2	3	2.015224	Q9UDX4	S14L3_HUMAN		12	1210	-			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	1	1	hg19	c.1120G>A	CCDS13877.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070140	0.36566	2.27E-4	9.3E-4	ENSG00000100012	ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.95	-0.882	0.10604	5.95	-0.882	0.10604	GOLD (2);	0.273852	0.41396	N	0.000882	T	0.26810	0.0656	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08889	-1.0700	10	0.36615	T	0.2	-7.9929	13.8199	0.63313	0.0:0.901:0.0:0.099	.	297;374	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	374;297;315;315;297	ENSP00000215812:A374T;ENSP00000385004:A297T;ENSP00000383896:A315T;ENSP00000444691:A315T;ENSP00000439752:A297T	ENSP00000215812:A374T	A	-	1	0	0	SEC14L3	29186091	29186091	0.001000	0.12720	0.684000	0.30055	0.984000	0.73092	-0.083000	0.11286	0.037000	0.15575	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-4.345115	1	0.170000	NM_174975			67	67		326	321	1		1			0	0	93	0		1	0	0	0	0	0	0	67	326
SEC14L3	266629	broad.mit.edu	37	22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000215812.4	-	11	1102	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	338	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1012-1014)Ccc>Tcc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						81.0	76.0	78.0					22																	30857366		2203	4300	6503	SO:0001583	missense	266629	0	0					g.chr22:30857366G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1012C>T	chr22.hg19:g.30857366G>A	ENSP00000215812:p.Pro338Ser	0					SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P279S	p.P338S	NM_174975.4	NP_777635.1	1	2	3	2.015224	Q9UDX4	S14L3_HUMAN		11	1102	-			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	1	1	hg19	c.1012C>T	CCDS13877.1	1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709032	0.30322	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	-11.3	0.00108	5.67	-11.3	0.00108	GOLD (2);	0.636283	0.17380	N	0.176340	T	0.32285	0.0824	M	0.64170	1.965	0.38285	D	0.94253	B;B	0.21147	0.052;0.026	B;B	0.19148	0.024;0.024	T	0.14282	-1.0478	10	0.52906	T	0.07	-0.6816	7.647	0.28325	0.0575:0.4521:0.1795:0.311	.	261;338	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	279;279;338;261;279;279;261	ENSP00000385941:P279S;ENSP00000401864:P279S;ENSP00000215812:P338S;ENSP00000385004:P261S;ENSP00000383896:P279S;ENSP00000444691:P279S;ENSP00000439752:P261S	ENSP00000215812:P338S	P	-	1	0	0	SEC14L3	29187366	29187366	0.000000	0.05858	0.018000	0.16275	0.652000	0.38707	-0.852000	0.04308	-1.970000	0.01003	0.655000	0.94253	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_174975			77	78		359	354	1		1			0	0	93	0		1	0	0	0	0	0	0	77	359
SEC14L4	284904	broad.mit.edu	37	22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000255858.7	-	6	529	c.446C>T	c.(445-447)gCg>gTg	p.A149V	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	149	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			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)	CACCATCAGCGCCATCTCGAT	0.592																																						ENST00000255858.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(445-447)gCg>gTg		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)	G	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	140.0	111.0	121.0		446,446	2.8	0.0	22	dbSNP_134	121	0,8600		0,0,4300	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign	149/361,149/407	30890926	5,13001	2203	4300	6503	SO:0001583	missense	284904	16	121412	44				g.chr22:30890926G>A	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.446C>T	chr22.hg19:g.30890926G>A	ENSP00000255858:p.Ala149Val	0					SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|RP4-539M6.14_ENST00000442126.1_RNA|RP4-539M6.14_ENST00000610156.1_RNA	p.A149V	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	1	2	3	2.015224	Q9UDX3	S14L4_HUMAN		6	529	-			A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	1	1	hg19	c.446C>T	CCDS13878.1	1	.	.	.	.	.	.	.	.	.	.	g	7.980	0.751077	0.15778	0.001135	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	2.8	0.32819	4.95	2.8	0.32819	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.516723	0.20813	N	0.085214	T	0.44664	0.1304	N	0.03000	-0.44	0.24522	N	0.994152	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27400	-1.0075	10	0.13853	T	0.58	-14.846	7.4929	0.27473	0.8194:0.0:0.1806:0.0	.	95;134;149	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	V	149;134;95;149	ENSP00000255858:A149V;ENSP00000440848:A134V;ENSP00000376525:A95V;ENSP00000371412:A149V	ENSP00000255858:A149V	A	-	2	0	0	SEC14L4	29220926	29220926	0.305000	0.24481	0.000000	0.03702	0.048000	0.14542	3.833000	0.55790	0.326000	0.23384	-0.373000	0.07131	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-3.443740	1	0.170000	NM_174977			82	82		330	324	1		1	1		0	0	76	0		1	3.446365e-01	0	3	0	3	0	82	330
GAL3ST1	9514	broad.mit.edu	37	22	30951198	30951198	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	338					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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCATGCGCTCGTTGGCATGGC	0.716																																						ENST00000402321.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1012-1014)aaC>aaT		galactose-3-O-sulfotransferase 1							21.0	22.0	22.0					22																	30951198		2200	4288	6488	SO:0001819	synonymous_variant	9514	0	0					g.chr22:30951198G>A	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.1014C>T	chr22.hg19:g.30951198G>A		0					GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N	p.N338N			1	2	3	2.015224	Q99999	G3ST1_HUMAN		3	1331	-			Q96C63	Silent	SNP	ENST00000402321.1	1	1	hg19	c.1014C>T	CCDS13879.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_004861			49	47		172	170	1		1	0		0	0	25	0		1	0	0	0	0	1	0	49	172
GAL3ST1	9514	broad.mit.edu	37	22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	179					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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCACCACCGGCCCGAAGTA	0.652																																						ENST00000402321.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(535-537)cCg>cTg		galactose-3-O-sulfotransferase 1							53.0	55.0	54.0					22																	30951676		2203	4300	6503	SO:0001583	missense	9514	0	0					g.chr22:30951676G>A	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.536C>T	chr22.hg19:g.30951676G>A	ENSP00000385735:p.Pro179Leu	0					GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L	p.P179L			1	2	3	2.015224	Q99999	G3ST1_HUMAN		3	853	-			Q96C63	Missense_Mutation	SNP	ENST00000402321.1	1	1	hg19	c.536C>T	CCDS13879.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304641	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282	T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.25	4.02	0.46733	5.25	4.02	0.46733	.	0.516617	0.20886	N	0.083911	T	0.04770	0.0129	N	0.02751	-0.505	0.21579	N	0.999634	B	0.06786	0.001	B	0.04013	0.001	T	0.41142	-0.9525	10	0.10636	T	0.68	-13.4125	8.4766	0.33016	0.0979:0.2798:0.6223:0.0	.	179	Q99999	G3ST1_HUMAN	L	179;179;179;179;179;179;179;179;180;179;179	ENSP00000385825:P179L;ENSP00000385735:P179L;ENSP00000384122:P179L;ENSP00000384388:P179L;ENSP00000343234:P179L;ENSP00000385207:P179L;ENSP00000402587:P179L;ENSP00000390545:P179L;ENSP00000395080:P180L;ENSP00000405017:P179L;ENSP00000401426:P179L	ENSP00000343234:P179L	P	-	2	0	0	GAL3ST1	29281676	29281676	0.006000	0.16342	0.044000	0.18714	0.959000	0.62525	1.643000	0.37217	2.462000	0.83206	0.491000	0.48974	CCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_004861			99	99		423	416	1		1	1		0	0	83	0		1	9.999151e-01	0	25	0	35	0	99	423
GAL3ST1	9514	broad.mit.edu	37	22	30951867	30951867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	115					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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGGGTAGTCGAAGTCATTGC	0.612																																						ENST00000402321.1	1.000000	0.730000	1	8.400000e-01	0.970000	0.939957	0.970000	1.000000																										0				21						c.(343-345)ttC>ttT		galactose-3-O-sulfotransferase 1							95.0	81.0	85.0					22																	30951867		2203	4300	6503	SO:0001819	synonymous_variant	9514	0	0					g.chr22:30951867G>A	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.345C>T	chr22.hg19:g.30951867G>A		0					GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F	p.F115F			1	2	3	2.015224	Q99999	G3ST1_HUMAN		3	662	-			Q96C63	Silent	SNP	ENST00000402321.1	1	1	hg19	c.345C>T	CCDS13879.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-3.318794	1	0.170000	NM_004861			53	53		601	585	0		1	1		0	0	118	0		1	9.817818e-01	0	17	0	56	0	53	601
PES1	23481	broad.mit.edu	37	22	30980611	30980611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000405677.1	-	7	988	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000402281.1_Silent_p.H15H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000402284.3_Silent_p.H154H	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617																																						ENST00000405677.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				29						c.(43-45)caC>caT		pescadillo ribosomal biogenesis factor 1							79.0	54.0	62.0					22																	30980611		2203	4300	6503	SO:0001819	synonymous_variant	23481	5	121398	36				g.chr22:30980611G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.45C>T	chr22.hg19:g.30980611G>A		0					PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000402281.1_Silent_p.H15H	p.H15H	NM_001282328.1	NP_001269257.1	1	2	3	2.015224				7	988	-				Silent	SNP	ENST00000405677.1	1	1	hg19	c.45C>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_014303			31	30		143	142	1		1	1		0	0	33	0		1	1	0	75	0	171	0	31	143
TCN2	6948	broad.mit.edu	37	22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000215838.3	+	3	839	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_ENST00000407817.3_Splice_Site_p.N115K|TCN2_ENST00000405742.3_Missense_Mutation_p.N111K			P20062	TCO2_HUMAN	transcobalamin II	115					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597																																						ENST00000215838.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(343-345)aaC>aaA		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	57.0	59.0					22																	31008947		2203	4300	6503	SO:0001583	missense	6948	0	0					g.chr22:31008947C>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.345C>A	chr22.hg19:g.31008947C>A	ENSP00000215838:p.Asn115Lys	0					TCN2_ENST00000405742.3_Missense_Mutation_p.N111K|TCN2_ENST00000407817.3_Splice_Site_p.N115K	p.N115K			1	2	3	2.015224	P20062	TCO2_HUMAN		3	839	+			Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	1	1	hg19	c.345C>A	CCDS13881.1	1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784339	0.49997	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	2.62;2.62;1.25	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.252999	0.45867	D	0.000331	T	0.56630	0.1998	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.70935	0.921;0.971;0.971	T	0.50499	-0.8821	10	0.18276	T	0.48	-35.3893	16.1181	0.81324	0.0:1.0:0.0:0.0	.	115;111;115	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	115;111;115	ENSP00000215838:N115K;ENSP00000385914:N111K;ENSP00000384914:N115K	ENSP00000215838:N115K	N	+	3	2	2	TCN2	29338947	29338947	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.753000	0.47524	2.541000	0.85698	0.655000	0.94253	AAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_000355			60	59		255	248	1		1	1		0	0	64	0		1	1	0	10	0	191	0	60	255
TCN2	6948	broad.mit.edu	37	22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000215838.3	+	5	1228	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_ENST00000407817.3_Missense_Mutation_p.S218I|TCN2_ENST00000405742.3_Missense_Mutation_p.S241I			P20062	TCO2_HUMAN	transcobalamin II	245					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597																																						ENST00000215838.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999865	0.990000	1.000000																										0				22						c.(733-735)aGc>aTc		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	56.0	58.0					22																	31011441		2203	4300	6503	SO:0001583	missense	6948	0	0					g.chr22:31011441G>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.734G>T	chr22.hg19:g.31011441G>T	ENSP00000215838:p.Ser245Ile	0					TCN2_ENST00000405742.3_Missense_Mutation_p.S241I|TCN2_ENST00000407817.3_Missense_Mutation_p.S218I	p.S245I			1	2	3	2.015224	P20062	TCO2_HUMAN		5	1228	+			Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	1	1	hg19	c.734G>T	CCDS13881.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510442	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.83953	2.67	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	0.75505	-0.3294	10	0.87932	D	0	-30.1398	17.0097	0.86403	0.0:0.0:1.0:0.0	.	218;241;245	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	245;241;218	ENSP00000215838:S245I;ENSP00000385914:S241I;ENSP00000384914:S218I	ENSP00000215838:S245I	S	+	2	0	0	TCN2	29341441	29341441	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_000355			39	39		257	254	1		1	1		0	0	70	0		1	1	0	16	0	215	0	39	257
TCN2	6948	broad.mit.edu	37	22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000215838.3	+	6	1267	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_ENST00000407817.3_Missense_Mutation_p.M231K|TCN2_ENST00000405742.3_Missense_Mutation_p.M254K			P20062	TCO2_HUMAN	transcobalamin II	258					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577																																						ENST00000215838.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(772-774)aTg>aAg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						64.0	58.0	60.0					22																	31011607		2203	4300	6503	SO:0001583	missense	6948	0	0					g.chr22:31011607T>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.773T>A	chr22.hg19:g.31011607T>A	ENSP00000215838:p.Met258Lys	0					TCN2_ENST00000405742.3_Missense_Mutation_p.M254K|TCN2_ENST00000407817.3_Missense_Mutation_p.M231K	p.M258K			1	2	3	2.015224	P20062	TCO2_HUMAN		6	1267	+			Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	1	1	hg19	c.773T>A	CCDS13881.1	1	.	.	.	.	.	.	.	.	.	.	T	0.195	-1.050182	0.01981	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.32023	1.47;1.47;1.47	5.31	-7.28	0.01456	5.31	-7.28	0.01456	.	1.154450	0.05920	N	0.633364	T	0.14830	0.0358	L	0.31294	0.92	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.0	T	0.34775	-0.9815	10	0.06099	T	0.92	0.7059	5.9433	0.19205	0.1018:0.4803:0.1114:0.3065	.	231;254;258	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	258;254;231	ENSP00000215838:M258K;ENSP00000385914:M254K;ENSP00000384914:M231K	ENSP00000215838:M258K	M	+	2	0	0	TCN2	29341607	29341607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.590000	0.01623	-0.441000	0.05720	ATG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_000355			39	39		203	201	1		1	1		0	0	53	0		1	1	0	9	0	167	0	39	203
TCN2	6948	broad.mit.edu	37	22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000215838.3	+	6	1422	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_ENST00000407817.3_Missense_Mutation_p.L283M|TCN2_ENST00000405742.3_Missense_Mutation_p.L306M			P20062	TCO2_HUMAN	transcobalamin II	310					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532																																						ENST00000215838.3	1.000000	0.690000	1	8.100000e-01	0.950000	0.921745	0.950000	1.000000																										0				22						c.(928-930)Ctg>Atg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						149.0	127.0	135.0					22																	31011762		2203	4300	6503	SO:0001583	missense	6948	0	0					g.chr22:31011762C>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.928C>A	chr22.hg19:g.31011762C>A	ENSP00000215838:p.Leu310Met	0					TCN2_ENST00000405742.3_Missense_Mutation_p.L306M|TCN2_ENST00000407817.3_Missense_Mutation_p.L283M	p.L310M			1	2	3	2.015224	P20062	TCO2_HUMAN		6	1422	+			Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	1	1	hg19	c.928C>A	CCDS13881.1	1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969362	0.53614	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35421	1.31;1.31;1.31	5.33	2.1	0.27182	5.33	2.1	0.27182	.	0.995000	0.08159	N	0.988829	T	0.29158	0.0725	N	0.22421	0.69	0.49299	D	0.999773	P;B;B	0.49696	0.927;0.436;0.436	P;B;B	0.45343	0.477;0.189;0.189	T	0.08027	-1.0742	10	0.48119	T	0.1	-1.1978	8.6513	0.34035	0.0:0.6047:0.314:0.0813	.	283;306;310	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	310;306;283	ENSP00000215838:L310M;ENSP00000385914:L306M;ENSP00000384914:L283M	ENSP00000215838:L310M	L	+	1	2	2	TCN2	29341762	29341762	0.375000	0.25089	0.993000	0.49108	0.850000	0.48378	0.998000	0.29744	0.883000	0.36040	0.655000	0.94253	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1		17	2	2	0		0	1	108		108	108	1	2.060000	-11.213450	1	0.170000	NM_000355			41	41		479	468	0		1	1		0	0	108	0		9.995770e-01	1	0	18	0	321	0	41	479
SLC35E4	339665	broad.mit.edu	37	22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	175	EamA.|Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTGGGGGCCGCCTGCAGCCT	0.682																																						ENST00000343605.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				10						c.(523-525)Gcc>Acc		solute carrier family 35, member E4							22.0	22.0	22.0					22																	31032960		2202	4298	6500	SO:0001583	missense	339665	0	0					g.chr22:31032960G>A		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.523G>A	chr22.hg19:g.31032960G>A	ENSP00000339626:p.Ala175Thr	0					SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T|SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T	p.A175T	NM_001001479.2	NP_001001479.1	1	2	3	2.015224	Q6ICL7	S35E4_HUMAN		1	1322	+			Q567P0	Missense_Mutation	SNP	ENST00000343605.4	1	1	hg19	c.523G>A	CCDS13882.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412306	0.83340	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	5.16	0.70880	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.115704	0.64402	D	0.000015	T	0.52581	0.1743	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.59056	0.851;0.637	T	0.50524	-0.8818	10	0.44086	T	0.13	-13.2384	12.5429	0.56182	0.0:0.0:0.8333:0.1666	.	175;175	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	T	175;175;175;151	ENSP00000339626:A175T;ENSP00000300385:A175T;ENSP00000384377:A175T;ENSP00000413552:A151T	ENSP00000300385:A175T	A	+	1	0	0	SLC35E4	29362960	29362960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.155000	0.58131	2.406000	0.81754	0.549000	0.68633	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	XM_290973			32	32		175	171	1		1	1		0	0	33	0		1	9.384536e-01	0	10	0	18	0	32	175
OSBP2	23762	broad.mit.edu	37	22	31091406	31091406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	170					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612																																						ENST00000332585.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(508-510)ggC>ggT		oxysterol binding protein 2							46.0	50.0	48.0					22																	31091406		2037	4182	6219	SO:0001819	synonymous_variant	23762	0	0					g.chr22:31091406C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.510C>T	chr22.hg19:g.31091406C>T		0					OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron	p.G170G	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	1	2	3	2.015224	Q969R2	OSBP2_HUMAN		1	614	+			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	1	1	hg19	c.510C>T	CCDS43002.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-20.000000	1	0.170000	NM_030758			66	65		304	301	1		1	1		0	0	90	0		1	2.961745e-01	0	5	0	1	0	66	304
OSBP2	23762	broad.mit.edu	37	22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	644					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592																																						ENST00000332585.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1930-1932)tgG>tgA		oxysterol binding protein 2							39.0	44.0	42.0					22																	31289171		2040	4203	6243	SO:0001587	stop_gained	23762	0	0					g.chr22:31289171G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1932G>A	chr22.hg19:g.31289171G>A	ENSP00000332576:p.Trp644*	0					OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000496575.1_Intron	p.W644*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	1	2	3	2.015224	Q969R2	OSBP2_HUMAN		9	2036	+			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	0	1	hg19	c.1932G>A	CCDS43002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.657238|6.657238	0.97739|0.97739	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.055783	.|0.85682	.|D	.|0.000000	T|.	0.45377|.	0.1339|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33266|.	-0.9875|.	4|.	.|0.02654	.|T	.|1	-11.9824|-11.9824	17.6971|17.6971	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	316|478;471;644;595;643;277;386;188;275	.|.	.|ENSP00000332576:W644X	G|W	+|+	2|3	0|0	0|0	OSBP2|OSBP2	29619171|29619171	29619171|29619171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.443000|6.443000	0.73447|0.73447	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_030758			45	43		184	181	1		1	0		0	0	48	0		1	8.220343e-01	0	0	0	15	0	45	184
SMTN	6525	broad.mit.edu	37	22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000347557.2	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000333137.7_Missense_Mutation_p.R29H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCGGCGGCGCATCCGCTCA	0.677																																						ENST00000347557.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(85-87)cGc>cAc		smoothelin							21.0	23.0	22.0					22																	31483985		2192	4282	6474	SO:0001583	missense	6525	2	121280	34				g.chr22:31483985G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.86G>A	chr22.hg19:g.31483985G>A	ENSP00000328635:p.Arg29His	0					SMTN_ENST00000333137.7_Missense_Mutation_p.R29H|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR	p.R29H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	1	2	3	2.015224	P53814	SMTN_HUMAN		3	304	+			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	1	1	hg19	c.86G>A	CCDS13886.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190406	0.58017	.	.	ENSG00000183963	ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.8	3.78	0.43462	4.8	3.78	0.43462	.	0.000000	0.35970	N	0.002864	T	0.32645	0.0836	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.081;0.047;0.047;0.047;0.038	B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.029;0.029;0.017	T	0.18178	-1.0345	10	0.87932	D	0	-7.7084	9.594	0.39563	0.1598:0.0:0.8402:0.0	.	85;83;21;29;29;29	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	H	83;29;83;83;29;29;29;29;21;21	ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H	ENSP00000329393:R29H	R	+	2	0	0	SMTN	29813985	29813985	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	1.173000	0.42796	0.650000	0.86243	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	NM_134270			40	39		147	145	1		1	1		0	0	33	0		1	9.999995e-01	0	14	0	74	0	40	147
SMTN	6525	broad.mit.edu	37	22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000347557.2	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000333137.7_Missense_Mutation_p.A73D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	73					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAGCGGGAAGCTGAGCAGCGG	0.627																																						ENST00000347557.2	1.000000	0.840000	1	9.500000e-01	0.990000	0.983160	0.990000	1.000000																										0				25						c.(217-219)gCt>gAt		smoothelin							66.0	73.0	71.0					22																	31484516		2203	4300	6503	SO:0001583	missense	6525	0	0					g.chr22:31484516C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.218C>A	chr22.hg19:g.31484516C>A	ENSP00000328635:p.Ala73Asp	0					SMTN_ENST00000333137.7_Missense_Mutation_p.A73D|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR	p.A73D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	1	2	3	2.015224	P53814	SMTN_HUMAN		4	436	+			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	1	1	hg19	c.218C>A	CCDS13886.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567316|3.567316	0.65651|0.65651	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.46819|.	0.86;0.88;0.95;0.95;0.95;0.95|.	4.79|4.79	3.66|3.66	0.41972|0.41972	4.79|4.79	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.37761|.	N|.	0.001950|.	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P|.	0.89917|.	0.999;0.906;1.0;1.0;0.906;0.939|.	D;P;D;D;P;P|.	0.87578|.	0.997;0.628;0.998;0.998;0.628;0.494|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	-11.835|-11.835	12.1168|12.1168	0.53870|0.53870	0.251:0.749:0.0:0.0|0.251:0.749:0.0:0.0	.|.	129;127;65;73;73;73|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	D|R	127;127;73;73;73;73;65;65|127	ENSP00000399432:A127D;ENSP00000401341:A127D;ENSP00000351593:A73D;ENSP00000328635:A73D;ENSP00000329532:A73D;ENSP00000394637:A65D|.	ENSP00000329393:A73D|.	A|S	+|+	2|3	0|2	0|2	SMTN|SMTN	29814516|29814516	29814516|29814516	0.705000|0.705000	0.27846|0.27846	0.978000|0.978000	0.43139|0.43139	0.991000|0.991000	0.79684|0.79684	1.138000|1.138000	0.31491|0.31491	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCT|AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1		2	2	2	0		0	0	124		124	105	1	2.060000	-18.207290	1	0.170000	NM_134270			69	60		696	637	0		1	1		0	0	124	0		1	9.980405e-01	0	6	0	88	0	69	696
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000347557.2	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000358743.1_Missense_Mutation_p.R108C|SMTN_ENST00000333137.7_Missense_Mutation_p.R108C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	108					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642																																						ENST00000347557.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(322-324)Cgc>Tgc		smoothelin							67.0	56.0	60.0					22																	31484712		2201	4300	6501	SO:0001583	missense	6525	0	0					g.chr22:31484712C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.322C>T	chr22.hg19:g.31484712C>T	ENSP00000328635:p.Arg108Cys	0					SMTN_ENST00000333137.7_Missense_Mutation_p.R108C|SMTN_ENST00000358743.1_Missense_Mutation_p.R108C	p.R108C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	1	2	3	2.015224	P53814	SMTN_HUMAN		5	540	+			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	1	1	hg19	c.322C>T	CCDS13886.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.233178|4.233178	0.79688|0.79688	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.|T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72	4.79|4.79	4.79|4.79	0.61399|0.61399	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.38272	.|N	.|0.001743	T|T	0.72835|0.72835	0.3510|0.3510	N|N	0.24115|0.24115	0.695|0.695	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	.|0.91635	.|0.999;0.999;0.997;0.999;0.999;0.999	T|T	0.71159|0.71159	-0.4674|-0.4674	5|9	.|.	.|.	.|.	-15.9456|-15.9456	13.2377|13.2377	0.59979|0.59979	0.1589:0.8411:0.0:0.0|0.1589:0.8411:0.0:0.0	.|.	.|164;162;100;108;108;108	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	162|108;108;108;108;100;20;100	.|ENSP00000351593:R108C;ENSP00000328635:R108C;ENSP00000329532:R108C;ENSP00000409990:R20C;ENSP00000394637:R100C	.|.	A|R	+|+	2|1	0|0	0|0	SMTN|SMTN	29814712|29814712	29814712|29814712	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.703000|2.703000	0.47110|0.47110	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCG|CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_134270			28	28		94	94	1		1	1		0	0	29	0		1	1	0	16	0	92	0	28	94
SMTN	6525	broad.mit.edu	37	22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000347557.2	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000404574.1_Missense_Mutation_p.R287C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000333137.7_Missense_Mutation_p.R764C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	764					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTCCCAGGCGCGCAAGGCCAT	0.677																																						ENST00000347557.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.996663	0.990000	1.000000																										0				25						c.(2290-2292)Cgc>Tgc		smoothelin							14.0	18.0	17.0					22																	31494783		2198	4289	6487	SO:0001583	missense	6525	3	121256	35				g.chr22:31494783C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2290C>T	chr22.hg19:g.31494783C>T	ENSP00000328635:p.Arg764Cys	0					SMTN_ENST00000333137.7_Missense_Mutation_p.R764C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	p.R764C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	1	2	3	2.015224	P53814	SMTN_HUMAN		17	2508	+			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	0	1	hg19	c.2290C>T	CCDS13886.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626507	0.87560	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.94376	-0.51;-0.9;-0.9;1.41;-3.41	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.38272	N	0.001743	D	0.95306	0.8477	L	0.41492	1.28	0.80722	D	1	P;D;D;D;P;P;P;D	0.89917	0.936;0.971;1.0;1.0;0.828;0.876;0.828;0.962	P;P;D;D;B;P;B;P	0.83275	0.579;0.558;0.996;0.996;0.254;0.579;0.254;0.631	D	0.95709	0.8756	10	0.87932	D	0	-12.395	19.4284	0.94754	0.0:1.0:0.0:0.0	.	820;849;144;287;787;764;764;764	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	764;764;764;762;787;165;287;144	ENSP00000351593:R764C;ENSP00000328635:R764C;ENSP00000329532:R764C;ENSP00000392329:R165C;ENSP00000383919:R287C	ENSP00000329393:R762C	R	+	1	0	0	SMTN	29824783	29824783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.438000	0.59961	2.686000	0.91538	0.561000	0.74099	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_134270			21	21		150	148	0		1	1		0	0	19	0		9.999982e-01	9.003532e-01	0	2	0	29	0	21	150
INPP5J	27124	broad.mit.edu	37	22	31529975	31529975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	ENST00000331075.5	+	13	2640	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	864	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	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)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGGATGACAGCACACTGGAG	0.647																																						ENST00000331075.5	1.000000	0.630000	1	8.600000e-01	0.990000	0.949780	0.990000	1.000000																										0				12						c.(2590-2592)aGc>aAc		inositol polyphosphate-5-phosphatase J							23.0	28.0	26.0					22																	31529975		2177	4279	6456	SO:0001583	missense	27124	0	0					g.chr22:31529975G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2591G>A	chr22.hg19:g.31529975G>A	ENSP00000333262:p.Ser864Asn	0					INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N	p.S864N	NM_001284285.1	NP_001271214.1	1	2	3	2.015224	Q15735	PI5PA_HUMAN		13	2640	+			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	0	1	hg19	c.2591G>A		1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716751	0.89205	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.99311	-5.23;-5.21;-5.27;-5.27;-5.26;-5.73;-4.44;-4.44	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.98902	0.9628	L	0.32530	0.975	0.49687	D	0.999815	D;D;D;D	0.89917	0.999;0.999;1.0;0.993	D;D;D;D	0.69479	0.964;0.922;0.963;0.91	D	0.99927	1.1295	10	0.87932	D	0	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	497;203;864;496	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	N	864;797;497;497;496;203;229;229	ENSP00000333262:S864N;ENSP00000392924:S797N;ENSP00000383150:S497N;ENSP00000384596:S497N;ENSP00000384534:S496N;ENSP00000385264:S203N;ENSP00000385343:S229N;ENSP00000384540:S229N	ENSP00000333262:S864N	S	+	2	0	0	INPP5J	29859975	29859975	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.493000	0.73658	2.610000	0.88304	0.655000	0.94253	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-18.083580	1	0.170000	NM_001002837			12	11		116	116	0		1	1		0	0	22	0		9.992320e-01	6.612500e-01	0	6	0	17	0	12	116
PLA2G3	50487	broad.mit.edu	37	22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T	rs374622090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	446					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		19023	0.0		0.0	False		,,,				2504	0.002					ENST00000215885.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1336-1338)Gcc>Acc		phospholipase A2, group III							43.0	45.0	44.0					22																	31531903		2203	4300	6503	SO:0001583	missense	50487	22	121412	43				g.chr22:31531903C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1336G>A	chr22.hg19:g.31531903C>T	ENSP00000215885:p.Ala446Thr	0						p.A446T	NM_015715.3	NP_056530.2	1	2	3	2.015224	Q9NZ20	PA2G3_HUMAN		7	1588	-			O95768	Missense_Mutation	SNP	ENST00000215885.3	1	1	hg19	c.1336G>A	CCDS13889.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333843	0.60853	.	.	ENSG00000100078	ENST00000215885	T	0.30981	1.51	5.27	5.27	0.74061	5.27	5.27	0.74061	Phospholipase A2 (2);	0.201738	0.42682	D	0.000673	T	0.52948	0.1766	M	0.71581	2.175	0.37492	D	0.916428	D	0.89917	1.0	D	0.80764	0.994	T	0.53613	-0.8414	10	0.30854	T	0.27	-9.2791	14.739	0.69440	0.0:1.0:0.0:0.0	.	446	Q9NZ20	PA2G3_HUMAN	T	446	ENSP00000215885:A446T	ENSP00000215885:A446T	A	-	1	0	0	PLA2G3	29861903	29861903	0.999000	0.42202	0.972000	0.41901	0.360000	0.29518	3.589000	0.53972	2.631000	0.89168	0.655000	0.94253	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	1	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-20.000000	1	0.170000	NM_015715			77	71		275	271	1		1	1		0	0	70	0		1	7.298074e-01	0	7	0	4	0	77	275
PLA2G3	50487	broad.mit.edu	37	22	31535981	31535981	+	Silent	SNP	C	C	T	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	120					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637													C|||	9	0.00179712	0.0068	0.0	5008	,	,		17025	0.0		0.0	False		,,,				2504	0.0					ENST00000215885.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(358-360)gcG>gcA		phospholipase A2, group III		C		6,4400	11.4+/-27.6	0,6,2197	57.0	55.0	56.0		360	-3.9	0.0	22	dbSNP_134	56	0,8600		0,0,4300	yes	coding-synonymous	PLA2G3	NM_015715.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		120/510	31535981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	50487	19	121410	44				g.chr22:31535981C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.360G>A	chr22.hg19:g.31535981C>T		0						p.A120A	NM_015715.3	NP_056530.2	1	2	3	2.015224	Q9NZ20	PA2G3_HUMAN		1	612	-			O95768	Silent	SNP	ENST00000215885.3	1	1	hg19	c.360G>A	CCDS13889.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_015715			51	51		217	211	1		1	1		0	0	42	0		1	6.481457e-01	0	5	0	6	0	51	217
LIMK2	3985	broad.mit.edu	37	22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	52	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAACTGGTACTATGAGAAGGA	0.517																																						ENST00000331728.4	1.000000	0.170000	4.900000e-01	2.400000e-01	0.330000	0.402911	0.330000	0.320000																										0				29						c.(154-156)Tat>Cat		LIM domain kinase 2							174.0	161.0	165.0					22																	31654314		2203	4300	6503	SO:0001583	missense	3985	0	0					g.chr22:31654314T>C	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.154T>C	chr22.hg19:g.31654314T>C	ENSP00000332687:p.Tyr52His	0					LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	p.Y52H	NM_005569.3	NP_005560.1	1	2	3	2.015224	P53671	LIMK2_HUMAN		3	268	+			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	1	1	hg19	c.154T>C	CCDS13891.1	0	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799831	0.90538	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.66	5.66	0.87406	5.66	5.66	0.87406	Zinc finger, LIM-type (4);	0.059305	0.64402	D	0.000001	D	0.93716	0.7992	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.992	D	0.94347	0.7576	10	0.87932	D	0	-19.7958	15.0663	0.71999	0.0:0.0:0.0:1.0	.	84;31;52	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	H	52;31;84;31;31	ENSP00000332687:Y52H;ENSP00000388422:Y31H;ENSP00000330470:Y31H;ENSP00000339916:Y31H	ENSP00000332687:Y52H	Y	+	1	0	0	LIMK2	29984314	29984314	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-10.581160	1	0.170000	NM_016733			11	11		403	396	0		1	0		0	0	88	0		9.982202e-01	7.540212e-01	0	1	0	99	0	11	403
LIMK2	3985	broad.mit.edu	37	22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	523	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)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331728.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1567-1569)Tat>Cat		LIM domain kinase 2							277.0	193.0	221.0					22																	31669446		2203	4300	6503	SO:0001583	missense	3985	0	0					g.chr22:31669446T>C	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.1567T>C	chr22.hg19:g.31669446T>C	ENSP00000332687:p.Tyr523His	0		OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	826	LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H	p.Y523H	NM_005569.3	NP_005560.1	1	2	3	2.015224	P53671	LIMK2_HUMAN		14	1681	+			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	1	1	hg19	c.1567T>C	CCDS13891.1	1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.261998	0.80358	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.53	4.49	0.54785	5.53	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.84846	2.72	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.977	D	0.95049	0.8185	10	0.87932	D	0	-29.6651	12.0303	0.53394	0.0:0.0:0.1445:0.8555	.	555;502;277;523;445	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	445;277;523;555;502;502	ENSP00000384602:Y445H;ENSP00000409522:Y277H;ENSP00000332687:Y523H;ENSP00000330470:Y502H;ENSP00000339916:Y502H	ENSP00000332687:Y523H	Y	+	1	0	0	LIMK2	29999446	29999446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	0.904000	0.36572	0.460000	0.39030	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_016733			45	43		203	202	1		1	1		0	0	45	0		1	1	0	45	0	155	0	45	203
PATZ1	23598	broad.mit.edu	37	22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					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)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTATGCTGCCCGCAAGTACTT	0.567																																						ENST00000266269.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									EWSR1/PATZ1(2)	0				12						c.(1432-1434)cGg>cAg		POZ (BTB) and AT hook containing zinc finger 1							115.0	104.0	108.0					22																	31731752		2203	4300	6503	SO:0001583	missense	23598	1	121412	30				g.chr22:31731752C>T	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.1433G>A	chr22.hg19:g.31731752C>T	ENSP00000266269:p.Arg478Gln	0					RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q	p.R478Q	NM_014323.2	NP_055138.2	1	2	3	2.015224	Q9HBE1	PATZ1_HUMAN		3	2062	-			Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	1	1	hg19	c.1433G>A	CCDS13894.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.374162	0.95923	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.11169	4.68;2.8;2.85	5.33	5.33	0.75918	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.75484	0.979;0.986;0.979	T	0.06303	-1.0834	10	0.15952	T	0.53	-17.0252	18.0252	0.89266	0.0:1.0:0.0:0.0	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	Q	478	ENSP00000266269:R478Q;ENSP00000384173:R478Q;ENSP00000337520:R478Q	ENSP00000266269:R478Q	R	-	2	0	0	PATZ1	30061752	30061752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-2.746718	1	0.170000	NM_032052			64	63		272	265	1		1	1		0	0	72	0		1	9.999895e-01	0	7	0	67	0	64	272
EIF4ENIF1	56478	broad.mit.edu	37	22	31835923	31835923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000397525.1	-	19	3124	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	967						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGAGGGCAGGGGTTGCTGTA	0.592																																						ENST00000397525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2899-2901)ccC>ccT		eukaryotic translation initiation factor 4E nuclear import factor 1							102.0	83.0	89.0					22																	31835923		2203	4300	6503	SO:0001819	synonymous_variant	56478	0	0					g.chr22:31835923G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2901C>T	chr22.hg19:g.31835923G>A		0					EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000441289.1_5'Flank	p.P967P	NM_001164501.1	NP_001157973.1	1	2	3	2.015224	Q9NRA8	4ET_HUMAN		19	3124	-			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	1	1	hg19	c.2901C>T	CCDS13898.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.675680	1	0.170000	NM_019843			59	58		313	311	1		1	1		0	0	69	0		1	9.986819e-01	0	10	0	45	0	59	313
EIF4ENIF1	56478	broad.mit.edu	37	22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000397525.1	-	13	2049	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	609						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGGCTCATGGGTTTGCGCAT	0.532																																						ENST00000397525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1825-1827)cCc>cAc		eukaryotic translation initiation factor 4E nuclear import factor 1							239.0	208.0	219.0					22																	31844161		2203	4300	6503	SO:0001583	missense	56478	0	0					g.chr22:31844161G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1826C>A	chr22.hg19:g.31844161G>T	ENSP00000380659:p.Pro609His	0					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H	p.P609H	NM_001164501.1	NP_001157973.1	1	2	3	2.015224	Q9NRA8	4ET_HUMAN		13	2049	-			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	1	1	hg19	c.1826C>A	CCDS13898.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.404947	0.30630	N	0.009207	T	0.66376	0.2783	L	0.38175	1.15	0.42328	D	0.992287	P;D;P;P	0.61080	0.896;0.989;0.797;0.914	P;P;P;P	0.60345	0.694;0.873;0.57;0.726	T	0.66681	-0.5862	9	0.66056	D	0.02	-6.1473	18.0158	0.89239	0.0:0.0:1.0:0.0	.	434;609;434;585	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	434;609;609;585;264;166	.	ENSP00000328103:P609H	P	-	2	0	0	EIF4ENIF1	30174161	30174161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	CCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-3.225147	1	0.170000	NM_019843			96	93		502	490	1		1	1		0	0	130	0		1	9.998831e-01	0	14	0	56	0	96	502
SFI1	9814	broad.mit.edu	37	22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000400288.2	+	5	485	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000432498.1_Missense_Mutation_p.E127A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	127	Interaction with CETN2.				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)			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						GTCTTCGAAGAATGGAAAGAG	0.413																																						ENST00000400288.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(379-381)gAa>gCa		Sfi1 homolog, spindle assembly associated (yeast)							120.0	115.0	117.0					22																	31942888		1852	4094	5946	SO:0001583	missense	9814	0	0					g.chr22:31942888A>C	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.380A>C	chr22.hg19:g.31942888A>C	ENSP00000383145:p.Glu127Ala	0					SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000432498.1_Missense_Mutation_p.E127A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A	p.E127A	NM_001007467.2	NP_001007468.1	1	2	3	2.015224	A8K8P3	SFI1_HUMAN		5	485	+			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	1	1	hg19	c.380A>C	CCDS43004.1	1	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381436	0.11524	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.11495	2.98;3.02;2.83;2.77;2.77;2.83;2.99	5.58	1.07	0.20283	5.58	1.07	0.20283	.	0.799403	0.11209	N	0.587951	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;D;B;P;P	0.71674	0.027;0.033;0.998;0.056;0.717;0.663	B;B;D;B;B;B	0.72625	0.02;0.034;0.978;0.034;0.352;0.159	T	0.24905	-1.0147	10	0.51188	T	0.08	.	4.3223	0.11023	0.5714:0.1658:0.2628:0.0	.	103;45;45;127;127;103	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	A	127;103;45;103;45;45;45;127	ENSP00000402679:E127A;ENSP00000443025:E103A;ENSP00000416469:E45A;ENSP00000397148:E45A;ENSP00000401199:E45A;ENSP00000383146:E45A;ENSP00000383145:E127A	ENSP00000383145:E127A	E	+	2	0	0	SFI1	30272888	30272888	0.617000	0.27043	0.053000	0.19242	0.270000	0.26580	0.916000	0.28651	-0.116000	0.11893	0.482000	0.46254	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-20.000000	1	0.170000	NM_014775			116	114		462	451	1		1	1		0	0	94	0		1	9.885505e-01	0	8	0	22	0	116	462
SFI1	9814	broad.mit.edu	37	22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000400288.2	+	22	2285	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000432498.1_Missense_Mutation_p.A696D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000443326.1_Missense_Mutation_p.A645D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	727					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)			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						TGGCGGGAAGCTGTGTCAGTG	0.607																																						ENST00000400288.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997950	0.990000	1.000000																										0				38						c.(2179-2181)gCt>gAt		Sfi1 homolog, spindle assembly associated (yeast)							48.0	54.0	52.0					22																	32003945		2071	4211	6282	SO:0001583	missense	9814	0	0					g.chr22:32003945C>A	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.2180C>A	chr22.hg19:g.32003945C>A	ENSP00000383145:p.Ala727Asp	0					SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000432498.1_Missense_Mutation_p.A696D|SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D	p.A727D	NM_001007467.2	NP_001007468.1	1	2	3	2.015224	A8K8P3	SFI1_HUMAN		22	2285	+			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	1	1	hg19	c.2180C>A	CCDS43004.1	1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644410	0.29246	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16073	2.92;2.92;2.75;2.77;2.77;2.75;2.92;2.37	5.08	1.67	0.24075	5.08	1.67	0.24075	.	0.464849	0.24111	N	0.041452	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P;P;B;P;P	0.46987	0.888;0.773;0.302;0.789;0.573	P;B;B;P;B	0.47915	0.561;0.3;0.109;0.48;0.3	T	0.12268	-1.0554	10	0.62326	D	0.03	.	2.7705	0.05333	0.2125:0.4995:0.0:0.2879	.	672;633;645;696;727	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	D	696;672;645;574;574;645;727;310	ENSP00000402679:A696D;ENSP00000443025:A672D;ENSP00000416469:A645D;ENSP00000397148:A574D;ENSP00000401199:A574D;ENSP00000383146:A645D;ENSP00000383145:A727D;ENSP00000398871:A310D	ENSP00000383145:A727D	A	+	2	0	0	SFI1	30333945	30333945	0.020000	0.18652	0.144000	0.22314	0.059000	0.15707	-0.020000	0.12525	0.138000	0.18790	-1.288000	0.01363	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-20.000000	1	0.170000	NM_014775			20	17		133	129	1		1	1		0	0	37	0		9.999951e-01	9.722260e-01	0	11	0	31	0	20	133
SFI1	9814	broad.mit.edu	37	22	32014362	32014362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000400288.2	+	33	3792	c.3687C>T	c.(3685-3687)gcC>gcT	p.A1229A	SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000540643.1_Silent_p.A1174A|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000432498.1_Silent_p.A1198A|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000443326.1_Silent_p.A1147A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1229					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)			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						CCATTGGCGCCTGCGTTGCCC	0.687																																						ENST00000400288.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				38						c.(3685-3687)gcC>gcT		Sfi1 homolog, spindle assembly associated (yeast)							14.0	17.0	16.0					22																	32014362		1957	4127	6084	SO:0001819	synonymous_variant	9814	0	0					g.chr22:32014362C>T	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.3687C>T	chr22.hg19:g.32014362C>T		0					SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000432498.1_Silent_p.A1198A|SFI1_ENST00000443326.1_Silent_p.A1147A|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000443011.1_Silent_p.A1076A	p.A1229A	NM_001007467.2	NP_001007468.1	1	2	3	2.015224	A8K8P3	SFI1_HUMAN		33	3792	+			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	1	1	hg19	c.3687C>T	CCDS43004.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_014775			22	22		89	88	1		1	1		0	0	19	0		9.999994e-01	9.168981e-01	0	3	0	17	0	22	89
PISD	23761	broad.mit.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32017820G>A	ENST00000439502.2	-	4	596	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.R91C|PISD_ENST00000397500.1_Missense_Mutation_p.R91C|PISD_ENST00000382151.2_Missense_Mutation_p.R91C|PISD_ENST00000336566.4_Missense_Mutation_p.R125C			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	125					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)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622																																						ENST00000439502.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(373-375)Cgc>Tgc		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						71.0	62.0	65.0					22																	32017820		2203	4300	6503	SO:0001583	missense	23761	0	0					g.chr22:32017820G>A		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.373C>T	chr22.hg19:g.32017820G>A	ENSP00000391739:p.Arg125Cys	0					PISD_ENST00000397500.1_Missense_Mutation_p.R91C|PISD_ENST00000382151.2_Missense_Mutation_p.R91C|PISD_ENST00000266095.5_Missense_Mutation_p.R91C|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Missense_Mutation_p.R125C	p.R125C			1	2	3	2.015224	Q9UG56	PISD_HUMAN		4	596	-			B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	1	0	hg19	c.373C>T		1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531634	0.85706	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020	.	.	.	5.62	4.61	0.57282	5.62	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.79614	2.46	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.913	D;P;P;B	0.63703	0.917;0.872;0.838;0.334	T	0.77021	-0.2742	9	0.39692	T	0.17	-43.4371	13.5982	0.62002	0.0745:0.0:0.9255:0.0	.	115;125;91;91	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2	.;PISD_HUMAN;.;.	C	91;91;91;125;125;91;91	.	ENSP00000266095:R91C	R	-	1	0	0	PISD	30347820	30347820	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.471000	0.97696	1.387000	0.46486	-0.251000	0.11542	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000				82	81		366	359	1		1	1		0	0	93	0		1	9.999982e-01	0	21	0	66	0	82	366
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T	rs368563183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382105.2_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																																						ENST00000382112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - coding silent(3)	p.F601F(3)	lung(2)|large_intestine(1)	63						c.(1801-1803)ttC>ttT		DEP domain containing 5		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	SO:0001819	synonymous_variant	9681	3	120976	40				g.chr22:32215144C>T	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	chr22.hg19:g.32215144C>T		0					DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F	p.F601F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	1	2	3	2.015224	O75140	DEPD5_HUMAN		21	1873	+			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	1	1	hg19	c.1803C>T	CCDS46692.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	1	0	0		20	2	2	1		1	1	108		108	104	1	2.060000	-3.061231	1	0.170000	NM_014662			113	113		519	506	1		1	1		1	0	108	0		1	8.337302e-01	0	6	0	11	0	113	519
DEPDC5	9681	broad.mit.edu	37	22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000382112.3	+	22	2070	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	667					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						CATGAAGCTGCTGGAAGGTGA	0.522																																						ENST00000382112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1999-2001)gCt>gAt		DEP domain containing 5							119.0	126.0	124.0					22																	32217617		2119	4242	6361	SO:0001583	missense	9681	0	0					g.chr22:32217617C>A	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.2000C>A	chr22.hg19:g.32217617C>A	ENSP00000371546:p.Ala667Asp	0					DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron	p.A667D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	1	2	3	2.015224	O75140	DEPD5_HUMAN		22	2070	+			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	1	1	hg19	c.2000C>A	CCDS46692.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184099|4.184099	0.78677|0.78677	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.85;1.9;1.83;1.9;1.83;1.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.058834|.	0.64402|.	D|.	0.000001|.	T|.	0.53481|.	0.1799|.	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35272|.	0.418;0.493;0.039;0.181|.	B;B;B;B|.	0.26864|.	0.046;0.074;0.034;0.034|.	T|.	0.46020|.	-0.9221|.	10|.	0.16896|.	T|.	0.51|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;667;667;667|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	D|X	667|64	ENSP00000266091:A667D;ENSP00000383108:A667D;ENSP00000383105:A667D;ENSP00000371546:A667D;ENSP00000371545:A667D;ENSP00000383107:A667D|.	ENSP00000266091:A667D|.	A|C	+|+	2|3	0|2	0|2	DEPDC5|DEPDC5	30547617|30547617	30547617|30547617	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	5.624000|5.624000	0.67764|0.67764	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GCT|TGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	0	0	1		16	2	2	1		1	1	199		199	198	1	2.060000	-20.000000	1	0.170000	NM_014662			154	150		721	703	1		1	1		1	0	199	0		1	7.999316e-01	0	3	0	13	0	154	721
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1193					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						AGGAGTCCAGCTGCTCTCTGA	0.572																																						ENST00000382112.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				63						c.(3550-3552)Ctg>Atg		DEP domain containing 5							42.0	45.0	44.0					22																	32270272		2047	4195	6242	SO:0001583	missense	9681	0	0					g.chr22:32270272C>A	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.3550C>A	chr22.hg19:g.32270272C>A	ENSP00000371546:p.Leu1184Met	0					DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M	p.L1184M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	1	2	3	2.015224	O75140	DEPD5_HUMAN		35	3620	+			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	1	1	hg19	c.3550C>A	CCDS46692.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|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;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	0|2	DEPDC5|DEPDC5	30600272|30600272	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_014662			15	15		50	49	1		1	1		0	0	23	0		9.999297e-01	9.753369e-01	0	6	0	18	0	15	50
YWHAH	7533	broad.mit.edu	37	22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000248975.5	+	2	397	c.124C>T	c.(124-126)Cga>Tga	p.R42*	YWHAH_ENST00000471374.1_3'UTR|snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	42					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(124-126)Cga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta							101.0	93.0	96.0					22																	32352162		2203	4300	6503	SO:0001587	stop_gained	7533	0	0					g.chr22:32352162C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.124C>T	chr22.hg19:g.32352162C>T	ENSP00000248975:p.Arg42*	0					snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	p.R42*	NM_003405.3	NP_003396.1	1	2	3	2.015224	Q04917	1433F_HUMAN		2	397	+				Nonsense_Mutation	SNP	ENST00000248975.5	0	1	hg19	c.124C>T	CCDS13901.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378687	0.42207	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	2.6	0.31112	5.95	2.6	0.31112	.	0.075854	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0057	9.3128	0.37915	0.4046:0.5275:0.0:0.0679	.	.	.	.	X	42;29	.	ENSP00000248975:R42X	R	+	1	2	2	YWHAH	30682162	30682162	0.267000	0.24122	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.349000	0.23975	0.655000	0.94253	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-4.405415	1	0.170000	NM_003405			92	90		302	297	1		1	1		0	0	76	0		1	1	0	115	0	617	0	92	302
SLC5A1	6523	broad.mit.edu	37	22	32495260	32495260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	457					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATTACATCCAGTCCATCACCA	0.493																																						ENST00000266088.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1369-1371)caG>caA		solute carrier family 5 (sodium/glucose cotransporter), member 1	Canagliflozin(DB08907)						256.0	236.0	243.0					22																	32495260		2203	4300	6503	SO:0001819	synonymous_variant	6523	0	0					g.chr22:32495260G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1371G>A	chr22.hg19:g.32495260G>A		0					SLC5A1_ENST00000543737.1_Silent_p.Q330Q	p.Q457Q	NM_000343.3	NP_000334.1	1	2	3	2.015224	P13866	SC5A1_HUMAN		12	1621	+			B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	1	1	hg19	c.1371G>A	CCDS13902.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	1	0	1		18	2	2	0		0	1	236		236	234	1	2.060000	-20.000000	1	0.170000	NM_000343			237	236		987	967	1		1	1		0	0	236	0		1	1	0	34	0	65	0	237	987
SLC5A1	6523	broad.mit.edu	37	22	32498116	32498116	+	Silent	SNP	G	G	A	rs201764381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32498116G>A	ENST00000266088.4	+	13	1807	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	SLC5A1_ENST00000543737.1_Silent_p.T392T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	519					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ACTGTCCCACGATTATCTGTG	0.493																																						ENST00000266088.4	1.000000	0.090000	3.100000e-01	1.400000e-01	0.200000	0.283806	0.200000	0.190000																										0				37						c.(1555-1557)acG>acA		solute carrier family 5 (sodium/glucose cotransporter), member 1	Canagliflozin(DB08907)						343.0	266.0	292.0					22																	32498116		2203	4300	6503	SO:0001819	synonymous_variant	6523	1	121412	32				g.chr22:32498116G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1557G>A	chr22.hg19:g.32498116G>A		0					SLC5A1_ENST00000543737.1_Silent_p.T392T	p.T519T	NM_000343.3	NP_000334.1	1	2	3	2.015224	P13866	SC5A1_HUMAN		13	1807	+			B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	0	1	hg19	c.1557G>A	CCDS13902.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	0	0	0		2	2	2	0		0	0	97		97	96	1	2.060000	-2.676108	1	0.170000	NM_000343			9	9		558	543	0		1	1		0	0	97	0		9.935376e-01	4.302630e-01	0	8	0	77	0	9	558
C22orf42	150297	broad.mit.edu	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557																																						ENST00000382097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(199-201)cCg>cTg		chromosome 22 open reading frame 42							181.0	175.0	177.0					22																	32555003		2203	4300	6503	SO:0001583	missense	150297	0	0					g.chr22:32555003G>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.200C>T	chr22.hg19:g.32555003G>A	ENSP00000371529:p.Pro67Leu	0					RP1-90G24.8_ENST00000426354.1_lincRNA	p.P67L	NM_001010859.1	NP_001010859.1	1	2	3	2.015224	Q6IC83	CV042_HUMAN		1	272	-			A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	1	1	hg19	c.200C>T	CCDS33639.1	1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068624	0.07228	.	.	ENSG00000205856	ENST00000382097	T	0.24723	1.84	.	.	.	.	.	.	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59546	0.859	T	0.15983	-1.0418	7	0.51188	T	0.08	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	L	67	ENSP00000371529:P67L	ENSP00000371529:P67L	P	-	2	0	0	C22orf42	30885003	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	1	0	1		2	2	2	0		0	0	234		234	228	1	2.060000	-2.249720	0	0.170000	NM_001010859			243	235		1054	1019	1		1	0		0	0	234	0		1	0	0	0	0	1	0	243	1054
RFPL2	10739	broad.mit.edu	37	22	32586765	32586765	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400237.1	-	5	2066	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000400236.3_Silent_p.A287A|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.A287A			O75678	RFPL2_HUMAN	ret finger protein-like 2	377							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGGCTTATTTGGCCTCCCCAG	0.448																																						ENST00000400237.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1129-1131)gcC>gcA		ret finger protein-like 2							76.0	83.0	80.0					22																	32586765		2183	4277	6460	SO:0001819	synonymous_variant	10739	0	0					g.chr22:32586765G>T	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.1131C>A	chr22.hg19:g.32586765G>T		0					RFPL2_ENST00000400236.3_Silent_p.A287A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR	p.A377A			1	2	3	2.015224	O75678	RFPL2_HUMAN		5	2066	-				Silent	SNP	ENST00000400237.1	1	1	hg19	c.1131C>A	CCDS43009.2	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	0	0	1		15	2	2	1		1	1	139		139	144	1	2.060000	-3.223986	1	0.170000	NM_006605			96	90		510	477	1		1			1	0	139	0		1	0	0	0	0	0	0	96	510
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(196-198)tcG>tcA		ret finger protein-like 3							121.0	114.0	117.0					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738	52	121412	47				g.chr22:32754256G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.198G>A	chr22.hg19:g.32754256G>A		0					RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank	p.S66S	NM_001098535.1	NP_001092005.1	1	2	3	2.015224	O75679	RFPL3_HUMAN		1	403	+			A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	1	0	hg19	c.198G>A	CCDS43011.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-2.492283	0	0.170000	NM_006604			101	98		407	402	1		1			0	0	99	0		1	0	0	0	0	0	0	101	407
FBXO7	25793	broad.mit.edu	37	22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Intron	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	90					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)			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						TATACCTTCATCCACAGATTC	0.443																																						ENST00000266087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(268-270)Tcc>Ccc		F-box protein 7							185.0	185.0	185.0					22																	32875113		2203	4300	6503	SO:0001583	missense	25793	0	0					g.chr22:32875113T>C	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.268T>C	chr22.hg19:g.32875113T>C	ENSP00000266087:p.Ser90Pro	0					FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000397426.1_5'UTR	p.S90P	NM_012179.3	NP_036311.3	1	2	3	2.015224	Q9Y3I1	FBX7_HUMAN		2	595	+			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	1	1	hg19	c.268T>C	CCDS13907.1	1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291808	0.40594	.	.	ENSG00000100225	ENST00000266087	T	0.41065	1.01	5.45	4.41	0.53225	5.45	4.41	0.53225	.	0.118284	0.64402	D	0.000011	T	0.29061	0.0722	L	0.42529	1.33	0.80722	D	1	B	0.20368	0.044	B	0.14023	0.01	T	0.13548	-1.0505	10	0.22109	T	0.4	-20.8168	4.9583	0.14054	0.0:0.2026:0.0:0.7974	.	90	Q9Y3I1	FBX7_HUMAN	P	90	ENSP00000266087:S90P	ENSP00000266087:S90P	S	+	1	0	0	FBXO7	31205113	31205113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.065000	0.61736	0.454000	0.30748	TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	0		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000				172	167		754	739	1		1	1		0	0	147	0		1	1	0	89	0	230	0	172	754
FBXO7	25793	broad.mit.edu	37	22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T	rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	92	Important for interaction with PINK1.				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)			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						TTCATCCACAGATTCAGAGCA	0.433																																						ENST00000266087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(274-276)Gat>Tat		F-box protein 7							175.0	176.0	176.0					22																	32875119		2203	4300	6503	SO:0001583	missense	25793	0	0					g.chr22:32875119G>T	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.274G>T	chr22.hg19:g.32875119G>T	ENSP00000266087:p.Asp92Tyr	0					FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_5'UTR	p.D92Y	NM_012179.3	NP_036311.3	1	2	3	2.015224	Q9Y3I1	FBX7_HUMAN		2	601	+			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	0	1	hg19	c.274G>T	CCDS13907.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061175|3.061175	0.55432|0.55432	.|.	.|.	ENSG00000100225|ENSG00000100225	ENST00000452138;ENST00000382058|ENST00000266087	.|T	.|0.56941	.|0.43	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.341251	.|0.31697	.|N	.|0.007220	.|T	.|0.57021	.|0.2025	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P	.|0.52316	.|0.952	.|P	.|0.47645	.|0.553	.|T	.|0.61676	.|-0.7014	.|10	.|0.52906	.|T	.|0.07	.|-13.235	9.1792|9.1792	0.37131|0.37131	0.0:0.1374:0.6345:0.228|0.0:0.1374:0.6345:0.228	.|.	.|92	.|Q9Y3I1	.|FBX7_HUMAN	.|Y	-1|92	.|ENSP00000266087:D92Y	.|ENSP00000266087:D92Y	.|D	+|+	.|1	.|0	.|0	FBXO7|FBXO7	31205119|31205119	31205119|31205119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	.|GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	0		2	2	2	0		0	0	142		142	141	1	2.060000	-3.342002	1	0.170000				196	190		688	670	1		1	1		0	0	142	0		1	1	0	81	0	241	0	196	688
FBXO7	25793	broad.mit.edu	37	22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T|FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	461	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)			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						GGAGACCCAATCAGTTCACTC	0.552																																						ENST00000266087.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1381-1383)aTc>aCc		F-box protein 7							113.0	104.0	107.0					22																	32894330		2203	4300	6503	SO:0001583	missense	25793	0	0					g.chr22:32894330T>C	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.1382T>C	chr22.hg19:g.32894330T>C	ENSP00000266087:p.Ile461Thr	0					FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T|FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T	p.I461T	NM_012179.3	NP_036311.3	1	2	3	2.015224	Q9Y3I1	FBX7_HUMAN		9	1709	+			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	1	1	hg19	c.1382T>C	CCDS13907.1	1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620332	0.46736	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73258	-0.73;-0.18;-0.16	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.358855	0.29558	N	0.011814	T	0.69260	0.3091	M	0.66939	2.045	0.35874	D	0.828461	B;B;B	0.29862	0.165;0.259;0.165	B;B;B	0.22753	0.027;0.041;0.027	T	0.74996	-0.3473	10	0.54805	T	0.06	-4.8952	16.3798	0.83452	0.0:0.0:0.0:1.0	.	461;382;461	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	T	461;382;347	ENSP00000266087:I461T;ENSP00000371490:I382T;ENSP00000380571:I347T	ENSP00000266087:I461T	I	+	2	0	0	FBXO7	31224330	31224330	.	.	0.064000	0.19789	0.984000	0.73092	.	.	2.271000	0.75665	0.533000	0.62120	ATC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000				104	101		446	434	1		1	1		0	0	127	0		1	1	0	139	0	447	0	104	446
SYN3	8224	broad.mit.edu	37	22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512																																						ENST00000358763.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				33						c.(721-723)Cca>Tca		synapsin III							142.0	109.0	120.0					22																	32992713		2203	4300	6503	SO:0001583	missense	8224	0	0					g.chr22:32992713G>A	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.721C>T	chr22.hg19:g.32992713G>A	ENSP00000351614:p.Pro241Ser	0					SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	p.P241S	NM_001135774.1	NP_001129246.1	1	2	3	2.015224	O14994	SYN3_HUMAN		7	963	-			B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	1	1	hg19	c.721C>T	CCDS13908.1	1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303253	0.40795	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32272	1.46;1.46	5.05	5.05	0.67936	5.05	5.05	0.67936	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.55990	1.75	0.45366	D	0.998351	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.70487	0.969;0.969;0.969	T	0.29397	-1.0013	10	0.30854	T	0.27	.	13.9058	0.63834	0.0:0.0:1.0:0.0	.	240;241;241	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	241	ENSP00000351614:P241S;ENSP00000330219:P241S	ENSP00000330219:P241S	P	-	1	0	0	SYN3	31322713	31322713	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	2.611000	0.46334	2.340000	0.79590	0.655000	0.94253	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-2.803463	1	0.170000				33	33		177	170	1		1			0	0	43	0		1	0	0	0	0	0	0	33	177
TIMP3	7078	broad.mit.edu	37	22	33255181	33255181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	151	Mediates interaction with EFEMP1.				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)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTCCTGCTACTACCTGCCTT	0.532																																						ENST00000266085.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(451-453)taC>taT		TIMP metallopeptidase inhibitor 3							132.0	117.0	122.0					22																	33255181		2203	4300	6503	SO:0001819	synonymous_variant	7078	0	0					g.chr22:33255181C>T		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.453C>T	chr22.hg19:g.33255181C>T		0					SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.Y151Y	NM_000362.4	NP_000353.1	1	2	3	2.015224	P35625	TIMP3_HUMAN		5	754	+			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	1	1	hg19	c.453C>T	CCDS13911.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_000362			69	68		375	367	1		1	0		0	0	79	0		1	1	0	0	0	1276	0	69	375
SYN3	8224	broad.mit.edu	37	22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607																																						ENST00000358763.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				33						c.(568-570)cCt>cAt		synapsin III							71.0	56.0	61.0					22																	33265005		2203	4300	6503	SO:0001583	missense	8224	0	0					g.chr22:33265005G>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.569C>A	chr22.hg19:g.33265005G>T	ENSP00000351614:p.Pro190His	0					SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	p.P190H	NM_001135774.1	NP_001129246.1	1	2	3	2.015224	O14994	SYN3_HUMAN		5	811	-			B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	1	1	hg19	c.569C>A	CCDS13908.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319821	0.60634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	5.87	5.87	0.94306	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.067659	0.64402	D	0.000014	T	0.42268	0.1195	M	0.70275	2.135	0.80722	D	1	P;B;P	0.44260	0.83;0.434;0.83	B;B;B	0.34536	0.185;0.131;0.185	T	0.51356	-0.8716	10	0.72032	D	0.01	-3.5917	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	189;190;190	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	190	ENSP00000351614:P190H;ENSP00000330219:P190H	ENSP00000330219:P190H	P	-	2	0	0	SYN3	31595005	31595005	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000				27	27		152	148	1		1			0	0	61	0		1	0	0	0	0	0	0	27	152
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592																																						ENST00000358763.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(79-81)cGc>cAc		synapsin III							105.0	110.0	108.0					22																	33402568		2203	4300	6503	SO:0001583	missense	8224	1	121412	33				g.chr22:33402568C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.80G>A	chr22.hg19:g.33402568C>T	ENSP00000351614:p.Arg27His	0					SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	p.R27H	NM_001135774.1	NP_001129246.1	1	2	3	2.015224	O14994	SYN3_HUMAN		2	322	-			B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	1	1	hg19	c.80G>A	CCDS13908.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620197	0.66787	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.63450	0.2512	M	0.62723	1.935	0.47547	D	0.999454	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.971;0.98	T	0.65932	-0.6048	10	0.66056	D	0.02	-4.6075	18.8654	0.92290	0.0:1.0:0.0:0.0	.	27;27;27	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	27	ENSP00000351614:R27H;ENSP00000330219:R27H	ENSP00000330219:R27H	R	-	2	0	0	SYN3	31732568	31732568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.908000	0.69916	2.509000	0.84616	0.557000	0.71058	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				116	114		584	566	1		1			0	0	136	0		1	0	0	0	0	0	0	116	584
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					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)			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)				AGGTGATATCCGTGTCAAGGA	0.478																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(727-729)acG>acA		like-glycosyltransferase							144.0	124.0	131.0					22																	33960892		2203	4300	6503	SO:0001819	synonymous_variant	9215	0	0					g.chr22:33960892C>T	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.729G>A	chr22.hg19:g.33960892C>T		0					LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T	p.T243T	NM_004737.4	NP_004728.1	1	2	3	2.015224	O95461	LARGE_HUMAN		7	1300	-		Lung NSC(1;0.219)	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	1	1	hg19	c.729G>A	CCDS13912.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	1	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-2.371204	0	0.170000	NM_133642			78	75		342	336	1		1	0		0	0	103	0		1	9.989305e-01	0	1	0	46	0	78	342
ISX	91464	broad.mit.edu	37	22	35478605	35478605	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	108					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587																																						ENST00000308700.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(322-324)gaC>gaT		intestine-specific homeobox							119.0	99.0	105.0					22																	35478605		2203	4300	6503	SO:0001819	synonymous_variant	91464	5	121412	38				g.chr22:35478605C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.324C>T	chr22.hg19:g.35478605C>T		0					ISX_ENST00000404699.2_Silent_p.D108D	p.D108D	NM_001008494.1	NP_001008494.1	1	2	3	2.015224	Q2M1V0	ISX_HUMAN		2	1276	+			Q68DJ5	Silent	SNP	ENST00000308700.6	1	1	hg19	c.324C>T	CCDS33640.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001008494			63	61		330	318	1		1			0	0	74	0		1	0	0	0	0	0	0	63	330
HMGXB4	10042	broad.mit.edu	37	22	35680005	35680005	+	Silent	SNP	C	C	T	rs200603781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	422					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)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16347	0.0		0.0	False		,,,				2504	0.0					ENST00000216106.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1264-1266)cgC>cgT		HMG box domain containing 4							188.0	157.0	168.0					22																	35680005		2203	4300	6503	SO:0001819	synonymous_variant	10042	5	121412	40				g.chr22:35680005C>T	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.1266C>T	chr22.hg19:g.35680005C>T		0					HMGXB4_ENST00000444518.2_Silent_p.R313R	p.R422R	NM_001003681.2	NP_001003681.1	1	2	3	2.015224	Q9UGU5	HMGX4_HUMAN		6	1394	+			O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	1	1	hg19	c.1266C>T	CCDS33641.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_005487			66	66		293	287	1		1	1		0	0	74	0		1	9.999999e-01	0	23	0	85	0	66	293
MCM5	4174	broad.mit.edu	37	22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000382011.5_Missense_Mutation_p.R265H|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632																																						ENST00000216122.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(922-924)cGc>cAc		minichromosome maintenance complex component 5							67.0	70.0	69.0					22																	35808506		2203	4300	6503	SO:0001583	missense	4174	1	121346	33				g.chr22:35808506G>A		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.923G>A	chr22.hg19:g.35808506G>A	ENSP00000216122:p.Arg308His	0					MCM5_ENST00000382011.5_Missense_Mutation_p.R265H|MCM5_ENST00000465557.1_3'UTR	p.R308H	NM_006739.3	NP_006730.2	1	2	3	2.015224	P33992	MCM5_HUMAN		8	1077	+			O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	1	1	hg19	c.923G>A	CCDS13915.1	1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555671	0.45487	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.03801	4.13;3.8	5.62	4.6	0.57074	5.62	4.6	0.57074	.	0.097141	0.64402	D	0.000001	T	0.10423	0.0255	M	0.86028	2.79	0.58432	D	0.999992	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.01545	-1.1328	10	0.56958	D	0.05	-25.5116	11.3088	0.49351	0.1579:0.0:0.8421:0.0	.	308;308;265;308	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	H	308;265;217	ENSP00000216122:R308H;ENSP00000371441:R265H	ENSP00000216122:R308H	R	+	2	0	0	MCM5	34138506	34138506	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	5.437000	0.66544	1.383000	0.46405	-0.258000	0.10820	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-3.887425	1	0.170000				135	133		502	497	1		1	1		0	0	96	0		1	9.999994e-01	0	16	0	61	0	135	502
RASD2	23551	broad.mit.edu	37	22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T	rs372988119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	131					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622																																						ENST00000216127.4	1.000000	0.730000	1	8.700000e-01	0.990000	0.955826	0.990000	1.000000																										0				13						c.(391-393)gCg>gTg		RASD family, member 2		C	VAL/ALA	0,4406		0,0,2203	75.0	68.0	70.0		392	3.6	0.6	22		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASD2	NM_014310.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/267	35947670	1,13005	2203	4300	6503	SO:0001583	missense	23551	1	121412	32				g.chr22:35947670C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.392C>T	chr22.hg19:g.35947670C>T	ENSP00000216127:p.Ala131Val	0						p.A131V	NM_014310.3	NP_055125.2	1	2	3	2.015224	Q96D21	RHES_HUMAN		3	1034	+			O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	1	1	hg19	c.392C>T	CCDS13916.1	1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921724	0.17982	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.72	3.6	0.41247	5.72	3.6	0.41247	Small GTP-binding protein domain (1);	0.291299	0.39083	N	0.001465	T	0.58821	0.2149	N	0.04162	-0.26	0.32629	N	0.522231	B	0.12630	0.006	B	0.13407	0.009	T	0.56062	-0.8041	10	0.27082	T	0.32	.	16.9288	0.86184	0.0:0.5053:0.4947:0.0	.	131	Q96D21	RHES_HUMAN	V	131	ENSP00000216127:A131V	ENSP00000216127:A131V	A	+	2	0	0	RASD2	34277616	34277616	0.844000	0.29557	0.620000	0.29132	0.949000	0.60115	1.492000	0.35594	0.746000	0.32786	0.561000	0.74099	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.318794	1	0.170000	NM_014310			33	32		349	346	0		1	0		0	0	72	0		1	2.208680e-01	0	0	0	10	0	33	349
APOL5	80831	broad.mit.edu	37	22	36124810	36124810	+	Silent	SNP	G	G	A	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	389					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGGAGCACCAGCCTAGGCTGG	0.602																																						ENST00000249044.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1165-1167)caG>caA		apolipoprotein L, 5							70.0	67.0	68.0					22																	36124810		2203	4300	6503	SO:0001819	synonymous_variant	80831	0	0					g.chr22:36124810G>A	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.1167G>A	chr22.hg19:g.36124810G>A		0						p.Q389Q	NM_030642.1	NP_085145.1	1	2	3	2.015224	Q9BWW9	APOL5_HUMAN		4	1167	+			Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	1	0	hg19	c.1167G>A	CCDS13920.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-5.227833	1	0.170000	NM_030642			67	67		384	375	1		1			0	0	100	0		1	0	0	0	0	0	0	67	384
APOL3	80833	broad.mit.edu	37	22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000349314.2	-	3	1049	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000424878.2_Missense_Mutation_p.R138W|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	338					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577																																						ENST00000349314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R338W(1)|p.R267W(1)	endometrium(2)	5						c.(1012-1014)Cgg>Tgg		apolipoprotein L, 3							67.0	60.0	62.0					22																	36537445		2203	4300	6503	SO:0001583	missense	80833	3	121412	35				g.chr22:36537445G>A	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.1012C>T	chr22.hg19:g.36537445G>A	ENSP00000344577:p.Arg338Trp	0					APOL3_ENST00000424878.2_Missense_Mutation_p.R138W|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000361710.2_Missense_Mutation_p.R138W	p.R338W	NM_145640.2	NP_663615.1	1	2	3	2.015224	O95236	APOL3_HUMAN		3	1049	-			B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	1	1	hg19	c.1012C>T	CCDS13922.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275184	0.59649	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.08	0.374	0.16183	4.08	0.374	0.16183	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.76170	2.325	0.28874	N	0.894763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01273	-1.1399	10	0.62326	D	0.03	.	6.8323	0.23917	0.0:0.1585:0.3732:0.4682	.	338;267	O95236;O95236-2	APOL3_HUMAN;.	W	267;138;338;138;138	ENSP00000380461:R267W;ENSP00000415779:R138W;ENSP00000344577:R338W;ENSP00000355164:R138W;ENSP00000380456:R138W	ENSP00000344577:R338W	R	-	1	2	2	APOL3	34867391	34867391	0.252000	0.23972	0.355000	0.25773	0.011000	0.07611	0.390000	0.20768	0.464000	0.27142	0.478000	0.44815	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-2.674520	1	0.170000	NM_145641			62	61		294	288	1		1	1		0	0	73	0		1	1	0	26	0	189	0	62	294
APOL2	23780	broad.mit.edu	37	22	36623483	36623483	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	327					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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557																																						ENST00000249066.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(979-981)atC>atA		apolipoprotein L, 2							64.0	71.0	69.0					22																	36623483		2196	4296	6492	SO:0001819	synonymous_variant	23780	0	0					g.chr22:36623483G>T	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.981C>A	chr22.hg19:g.36623483G>T		0					APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	p.I327I	NM_145637.1	NP_663612.1	1	2	3	2.015224	Q9BQE5	APOL2_HUMAN		6	1457	-			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	1	1	hg19	c.981C>A	CCDS43014.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_145637			91	85		441	419	1		1	1		0	0	99	0		1	1	0	144	0	314	0	91	441
APOL2	23780	broad.mit.edu	37	22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	155					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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572																																						ENST00000249066.6	1.000000	0.390000	9.300000e-01	5.100000e-01	0.670000	0.703824	0.670000	1.000000																										0				9						c.(463-465)Ctg>Atg		apolipoprotein L, 2							43.0	50.0	48.0					22																	36624001		2180	4271	6451	SO:0001583	missense	23780	0	0					g.chr22:36624001G>T	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.463C>A	chr22.hg19:g.36624001G>T	ENSP00000249066:p.Leu155Met	0					APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	p.L155M	NM_145637.1	NP_663612.1	1	2	3	2.015224	Q9BQE5	APOL2_HUMAN		6	939	-			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	1	1	hg19	c.463C>A	CCDS43014.1	0	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340718	0.24339	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.08807	3.05;3.05;3.05	3.66	-0.134	0.13481	3.66	-0.134	0.13481	.	0.149389	0.44688	D	0.000421	T	0.09992	0.0245	M	0.77486	2.375	0.09310	N	1	P;P	0.36412	0.463;0.552	B;B	0.38428	0.212;0.273	T	0.13072	-1.0523	10	0.54805	T	0.06	.	3.0361	0.06122	0.2466:0.0:0.5428:0.2106	.	267;155	B4E1T5;Q9BQE5	.;APOL2_HUMAN	M	155;155;267	ENSP00000351292:L155M;ENSP00000249066:L155M;ENSP00000403153:L267M	ENSP00000249066:L155M	L	-	1	2	2	APOL2	34953947	34953947	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	-0.260000	0.08708	0.318000	0.23185	0.411000	0.27672	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-17.615350	1	0.170000	NM_145637			15	15		260	252	1		1	1		0	0	64	0		9.998550e-01	9.999980e-01	0	45	0	397	0	15	260
APOL1	8542	broad.mit.edu	37	22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000397278.3	+	2	235	c.6G>T	c.(4-6)gaG>gaT	p.E2D	APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000319136.4_Missense_Mutation_p.E18D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	2					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCGACATGGAGGGAGCTGCTT	0.542																																						ENST00000397278.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999669	0.990000	1.000000																										0				14						c.(4-6)gaG>gaT		apolipoprotein L, 1							72.0	68.0	70.0					22																	36651007		2203	4300	6503	SO:0001583	missense	8542	0	0					g.chr22:36651007G>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.6G>T	chr22.hg19:g.36651007G>T	ENSP00000380448:p.Glu2Asp	0					APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000319136.4_Missense_Mutation_p.E18D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D	p.E2D	NM_003661.3	NP_003652.2	1	2	3	2.015224	O14791	APOL1_HUMAN		2	235	+			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	1	1	hg19	c.6G>T	CCDS13926.1	1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.865132	0.32977	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.22945	3.53;3.53;3.17;3.48;1.93;3.53	1.83	0.579	0.17397	1.83	0.579	0.17397	.	416.553000	0.01513	U	0.018039	T	0.22627	0.0546	N	0.19112	0.55	0.18873	N	0.999982	D;D;D	0.64830	0.989;0.989;0.994	P;B;P	0.49226	0.496;0.399;0.603	T	0.09400	-1.0676	10	0.56958	D	0.05	.	3.2446	0.06793	0.4761:0.0:0.5239:0.0	.	2;2;18	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	2;2;2;18;31;2;2;2;2	ENSP00000380448:E2D;ENSP00000411507:E2D;ENSP00000388477:E2D;ENSP00000317674:E18D;ENSP00000391302:E2D;ENSP00000380449:E2D	ENSP00000317674:E18D	E	+	3	2	2	APOL1	34980953	34980953	0.004000	0.15560	0.009000	0.14445	0.224000	0.24922	-0.005000	0.12855	0.149000	0.19098	0.184000	0.17185	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.879510	1	0.170000	NM_145343			42	40		299	293	1		1	1		0	0	71	0		1	1	0	639	0	1053	0	42	299
APOL1	8542	broad.mit.edu	37	22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000397278.3	+	6	570	c.341C>A	c.(340-342)gCt>gAt	p.A114D	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000319136.4_Missense_Mutation_p.A130D|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	114					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCCGTAAAGCTCTGGACAAC	0.458																																						ENST00000397278.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(340-342)gCt>gAt		apolipoprotein L, 1							77.0	72.0	74.0					22																	36661223		2203	4300	6503	SO:0001583	missense	8542	0	0					g.chr22:36661223C>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.341C>A	chr22.hg19:g.36661223C>A	ENSP00000380448:p.Ala114Asp	0					APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000319136.4_Missense_Mutation_p.A130D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D	p.A114D	NM_003661.3	NP_003652.2	1	2	3	2.015224	O14791	APOL1_HUMAN		6	570	+			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	1	1	hg19	c.341C>A	CCDS13926.1	1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.648028	0.29336	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	2.52	-4.21	0.03812	2.52	-4.21	0.03812	.	1.106010	0.06755	N	0.780721	T	0.13628	0.0330	M	0.75615	2.305	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.26467	-1.0102	10	0.54805	T	0.06	.	0.0452	0.00010	0.2944:0.2396:0.1985:0.2676	.	96;114;130	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	114;114;96;130;114;114	ENSP00000380448:A114D;ENSP00000411507:A114D;ENSP00000388477:A96D;ENSP00000317674:A130D;ENSP00000391302:A114D;ENSP00000380449:A114D	ENSP00000317674:A130D	A	+	2	0	0	APOL1	34991169	34991169	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.397000	0.07269	-0.899000	0.03901	0.194000	0.17425	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_145343			69	66		314	302	1		1	1		0	0	91	0		1	1	0	1087	0	1794	0	69	314
MYH9	4627	broad.mit.edu	37	22	36691608	36691608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36691608G>A	ENST00000216181.5	-	26	3658	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1143					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)			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						TGTTTTCAGAGCCTCTAGCTC	0.572			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5	1.000000	0.210000	6.800000e-01	3.100000e-01	0.450000	0.508389	0.450000	0.420000				Dom	yes			Dom	yes		22	22q13.1	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	yes	Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome	L	L	ALK		ALCL		0				86						c.(3427-3429)gCt>gTt		myosin, heavy chain 9, non-muscle							89.0	77.0	81.0					22																	36691608		2203	4300	6503	SO:0001583	missense	4627	0	0		Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	g.chr22:36691608G>A		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.3428C>T	chr22.hg19:g.36691608G>A	ENSP00000216181:p.Ala1143Val	0						p.A1143V	NM_002473.4	NP_002464.1	1	2	3	2.015224	P35579	MYH9_HUMAN		26	3658	-			A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	0	1	hg19	c.3428C>T	CCDS13927.1	0	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674146	0.88445	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.56	4.56	0.56223	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.89785	3.06	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.92210	0.5775	10	0.72032	D	0.01	.	17.6926	0.88272	0.0:0.0:1.0:0.0	.	1143	P35579	MYH9_HUMAN	V	1143	ENSP00000216181:A1143V	ENSP00000216181:A1143V	A	-	2	0	0	MYH9	35021554	35021554	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	9.813000	0.99286	2.261000	0.74972	0.561000	0.74099	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-10.278920	1	0.170000	NM_002473			9	7		245	238	0		1	1		0	0	32	0		9.934600e-01	1	0	67	0	2253	0	9	245
MYH9	4627	broad.mit.edu	37	22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	580	Myosin motor.				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)			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						CTCGTCAGCTTTGTAATCCAC	0.567			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5	1.000000	0.670000	1	8.400000e-01	0.990000	0.944192	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13.1	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	yes	Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome	L	L	ALK		ALCL		0				86						c.(1738-1740)aAa>aCa		myosin, heavy chain 9, non-muscle							156.0	123.0	134.0					22																	36705431		2203	4300	6503	SO:0001583	missense	4627	0	0		Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	g.chr22:36705431T>G		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.1739A>C	chr22.hg19:g.36705431T>G	ENSP00000216181:p.Lys580Thr	0						p.K580T	NM_002473.4	NP_002464.1	1	2	3	2.015224	P35579	MYH9_HUMAN		15	1969	-			A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	1	1	hg19	c.1739A>C	CCDS13927.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967794	0.74131	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.71341	-0.56	4.73	4.73	0.59995	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.17278	0.47	0.80722	D	1	B	0.29115	0.233	B	0.37267	0.245	T	0.65344	-0.6191	10	0.87932	D	0	.	14.1891	0.65625	0.0:0.0:0.0:1.0	.	580	P35579	MYH9_HUMAN	T	444;580	ENSP00000216181:K580T	ENSP00000216181:K580T	K	-	2	0	0	MYH9	35035377	35035377	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	8.023000	0.88764	1.904000	0.55121	0.460000	0.39030	AAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-8.463218	1	0.170000	NM_002473			21	21		222	216	0		1	1		0	0	34	0		9.999975e-01	1	0	97	0	1545	0	21	222
EIF3D	8664	broad.mit.edu	37	22	36912757	36912757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000541106.1_Silent_p.A308A|EIF3D_ENST00000405442.1_Silent_p.A357A	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCTACCGGTACGCAACAGAGG	0.507																																						ENST00000216190.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1069-1071)gcG>gcA		eukaryotic translation initiation factor 3, subunit D							212.0	192.0	199.0					22																	36912757		2203	4300	6503	SO:0001819	synonymous_variant	8664	1	121412	37				g.chr22:36912757C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1071G>A	chr22.hg19:g.36912757C>T		0					EIF3D_ENST00000541106.1_Silent_p.A308A|EIF3D_ENST00000405442.1_Silent_p.A357A	p.A357A	NM_003753.3	NP_003744.1	1	2	3	2.015224				11	1441	-				Silent	SNP	ENST00000216190.8	1	1	hg19	c.1071G>A	CCDS13930.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1	1	0	1		2	2	2	0		0	0	177		177	177	1	2.060000	-20.000000	1	0.170000				157	156		704	693	1		1	1		0	0	177	0		1	1	0	264	0	733	0	157	704
CSF2RB	1439	broad.mit.edu	37	22	37331398	37331398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37331398C>T	ENST00000403662.3	+	11	1543	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P447S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	441					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAAGTGCTGCCTATGTGGGT	0.592																																						ENST00000403662.3	1.000000	0.110000	5.300000e-01	1.900000e-01	0.310000	0.388481	0.310000	0.280000																										0				42						c.(1321-1323)Cct>Tct		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						140.0	105.0	117.0					22																	37331398		2203	4300	6503	SO:0001583	missense	1439	0	0					g.chr22:37331398C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1321C>T	chr22.hg19:g.37331398C>T	ENSP00000384053:p.Pro441Ser	0					CSF2RB_ENST00000262825.5_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S	p.P441S			1	2	3	2.015224	P32927	IL3RB_HUMAN		11	1543	+			Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	0	1	hg19	c.1321C>T	CCDS13936.1	0	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195812	0.38806	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92299	-2.5;-2.99;-2.99;-3.01	5.04	4.02	0.46733	5.04	4.02	0.46733	.	0.223957	0.23002	N	0.053071	D	0.87597	0.6217	L	0.39566	1.225	0.41067	D	0.985429	B;P	0.47604	0.063;0.898	B;B	0.43575	0.061;0.424	D	0.84699	0.0727	10	0.27082	T	0.32	-19.3553	10.1041	0.42521	0.0:0.9056:0.0:0.0944	.	447;441	P32927-2;P32927	.;IL3RB_HUMAN	S	441;441;447;447;388	ENSP00000384053:P441S;ENSP00000262825:P447S;ENSP00000385271:P447S;ENSP00000440003:P388S	ENSP00000262825:P447S	P	+	1	0	0	CSF2RB	35661344	35661344	0.980000	0.34600	0.827000	0.32855	0.007000	0.05969	1.366000	0.34193	1.448000	0.47680	0.555000	0.69702	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	0	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-6.600368	1	0.170000	NM_000395			5	5		209	208	0		1	0		0	0	55	0		9.375073e-01	1.965626e-01	0	0	0	29	0	5	209
CSF2RB	1439	broad.mit.edu	37	22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000403662.3	+	14	2576	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642																																						ENST00000403662.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2353-2355)gTc>gCc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						52.0	51.0	51.0					22																	37334204		2203	4300	6503	SO:0001583	missense	1439	0	0					g.chr22:37334204T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2354T>C	chr22.hg19:g.37334204T>C	ENSP00000384053:p.Val785Ala	0					CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A	p.V785A			1	2	3	2.015224	P32927	IL3RB_HUMAN		14	2576	+			Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	1	1	hg19	c.2354T>C	CCDS13936.1	1	.	.	.	.	.	.	.	.	.	.	T	0.386	-0.925985	0.02377	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.90788	-2.22;-2.73;-2.73;-2.73	5.38	-1.52	0.08637	5.38	-1.52	0.08637	.	0.614872	0.14560	N	0.312136	T	0.63628	0.2527	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.61549	-0.7040	10	0.07030	T	0.85	-8.6352	2.1121	0.03705	0.1292:0.458:0.1419:0.2708	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	A	785;785;791;791;732	ENSP00000384053:V785A;ENSP00000262825:V791A;ENSP00000385271:V791A;ENSP00000440003:V732A	ENSP00000262825:V791A	V	+	2	0	0	CSF2RB	35664150	35664150	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	-0.019000	0.14055	-0.375000	0.07067	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-2.814477	1	0.170000	NM_000395			77	76		344	334	1		1	0		0	0	65	0		1	9.989621e-01	0	0	0	47	0	77	344
TMPRSS6	164656	broad.mit.edu	37	22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000346753.3	-	17	2266	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S730I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	717	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGAGCGTTGCTGATGGGGCC	0.562																																						ENST00000346753.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(2149-2151)aGc>aTc		transmembrane protease, serine 6							104.0	77.0	86.0					22																	37462993		2203	4300	6503	SO:0001583	missense	164656	0	0					g.chr22:37462993C>A	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.2150G>T	chr22.hg19:g.37462993C>A	ENSP00000334962:p.Ser717Ile	0					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S730I	p.S717I	NM_153609.2	NP_705837.1	1	2	3	2.015224	Q8IU80	TMPS6_HUMAN		17	2266	-			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	1	1	hg19	c.2150G>T	CCDS13941.1	1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647772	0.67358	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.94	4.94	0.65067	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.85777	2.775	0.47123	D	0.999323	D;D	0.76494	0.998;0.999	D;D	0.77557	0.952;0.99	D	0.96516	0.9382	10	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	730;717	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	730;717;708;730	ENSP00000371211:S730I;ENSP00000334962:S717I;ENSP00000385453:S708I;ENSP00000384964:S730I	ENSP00000334962:S717I	S	-	2	0	0	TMPRSS6	35792939	35792939	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	3.654000	0.54453	2.267000	0.75376	0.591000	0.81541	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_153609			39	39		188	185	1		1	0		0	0	44	0		1	1.446809e-01	0	0	0	4	0	39	188
TMPRSS6	164656	broad.mit.edu	37	22	37471208	37471208	+	Missense_Mutation	SNP	G	G	A	rs117576908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37471208G>A	ENST00000346753.3	-	11	1452	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R437W|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R437W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R437W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	446	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> W (in dbSNP:rs117576908). {ECO:0000269|PubMed:19818657}.		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)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGTGCACCCGCACACCGGGC	0.657													G|||	18	0.00359425	0.0008	0.0043	5008	,	,		18785	0.0		0.0119	False		,,,				2504	0.002					ENST00000346753.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.989190	0.990000	1.000000																										0				40						c.(1336-1338)Cgg>Tgg		transmembrane protease, serine 6		G	TRP/ARG	11,4395	16.8+/-37.8	0,11,2192	64.0	69.0	67.0		1336	5.3	1.0	22	dbSNP_133	67	59,8541	36.9+/-92.0	0,59,4241	yes	missense	TMPRSS6	NM_153609.2	101	0,70,6433	AA,AG,GG		0.686,0.2497,0.5382	possibly-damaging	446/812	37471208	70,12936	2203	4300	6503	SO:0001583	missense	164656	1015	121412	63				g.chr22:37471208G>A	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.1336C>T	chr22.hg19:g.37471208G>A	ENSP00000334962:p.Arg446Trp	0					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R437W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R437W|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R437W	p.R446W	NM_153609.2	NP_705837.1	1	2	3	2.015224	Q8IU80	TMPS6_HUMAN		11	1452	-			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	1	0	hg19	c.1336C>T	CCDS13941.1	1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	G	16.85	3.235515	0.58886	0.002497	0.00686	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.27	5.27	0.74061	5.27	5.27	0.74061	CUB (4);	0.130546	0.52532	D	0.000064	T	0.10551	0.0258	N	0.08118	0	0.38107	D	0.937454	P;P	0.49447	0.924;0.876	B;B	0.43123	0.409;0.153	T	0.12344	-1.0551	10	0.37606	T	0.19	.	18.8759	0.92334	0.0:0.0:1.0:0.0	.	437;446	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	W	437;446;437;437	ENSP00000371211:R437W;ENSP00000334962:R446W;ENSP00000385453:R437W;ENSP00000384964:R437W	ENSP00000334962:R446W	R	-	1	2	2	TMPRSS6	35801154	35801154	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.205000	0.77881	2.455000	0.83008	0.561000	0.74099	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	1		2	2	2	0		0	0	108		108	104	1	2.060000	-3.142702	1	0.170000	NM_153609			53	52		503	477	0		1	0		0	0	108	0		1	0	0	0	0	1	0	53	503
TMPRSS6	164656	broad.mit.edu	37	22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000346753.3	-	2	319	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	68					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)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCACCCCCGCCGAAGCCAG	0.627																																						ENST00000346753.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(202-204)gCg>gTg		transmembrane protease, serine 6							49.0	50.0	50.0					22																	37499282		2203	4300	6503	SO:0001583	missense	164656	11	121412	41				g.chr22:37499282G>A	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.203C>T	chr22.hg19:g.37499282G>A	ENSP00000334962:p.Ala68Val	0					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V	p.A68V	NM_153609.2	NP_705837.1	1	2	3	2.015224	Q8IU80	TMPS6_HUMAN		2	319	-			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	1	1	hg19	c.203C>T	CCDS13941.1	1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776603	0.00640	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-0.88;-2.44	4.39	-3.81	0.04294	4.39	-3.81	0.04294	.	0.568873	0.16744	N	0.201301	T	0.76371	0.3978	N	0.14661	0.345	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.66822	-0.5826	10	0.05620	T	0.96	.	6.138	0.20243	0.2238:0.3691:0.4071:0.0	.	68;59;68	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	59;68;59;59;68;59	ENSP00000371211:A59V;ENSP00000334962:A68V;ENSP00000385453:A59V;ENSP00000384964:A59V;ENSP00000397691:A68V;ENSP00000400317:A59V	ENSP00000334962:A68V	A	-	2	0	0	TMPRSS6	35829228	35829228	0.412000	0.25392	0.426000	0.26672	0.059000	0.15707	0.133000	0.15912	-0.296000	0.08947	-0.362000	0.07510	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.518017	1	0.170000	NM_153609			81	81		307	299	1		1	0		0	0	60	0		1	0	0	0	0	1	0	81	307
IL2RB	3560	broad.mit.edu	37	22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	391			D -> E (in dbSNP:rs228942). {ECO:0000269|Ref.3}.		cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607																																						ENST00000216223.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1171-1173)Gac>Aac		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						59.0	60.0	59.0					22																	37524621		2203	4300	6503	SO:0001583	missense	3560	0	0					g.chr22:37524621C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1171G>A	chr22.hg19:g.37524621C>T	ENSP00000216223:p.Asp391Asn	0						p.D391N	NM_000878.3	NP_000869.1	1	2	3	2.015224	P14784	IL2RB_HUMAN		10	1369	-			B2R765	Missense_Mutation	SNP	ENST00000216223.5	1	1	hg19	c.1171G>A	CCDS13942.1	1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023888	0.54683	.	.	ENSG00000100385	ENST00000216223	T	0.08546	3.08	4.28	4.28	0.50868	4.28	4.28	0.50868	.	1.830200	0.02534	N	0.093949	T	0.08358	0.0208	N	0.14661	0.345	0.23095	N	0.998308	B	0.24721	0.11	B	0.24848	0.056	T	0.29549	-1.0008	10	0.25751	T	0.34	-6.2193	14.3549	0.66730	0.0:1.0:0.0:0.0	.	391	P14784	IL2RB_HUMAN	N	391	ENSP00000216223:D391N	ENSP00000216223:D391N	D	-	1	0	0	IL2RB	35854567	35854567	0.819000	0.29175	0.385000	0.26158	0.003000	0.03518	1.468000	0.35332	2.349000	0.79799	0.655000	0.94253	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				84	82		284	279	1		1	0		0	0	69	0		1	9.988623e-01	0	0	0	37	0	84	284
IL2RB	3560	broad.mit.edu	37	22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	251					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582																																						ENST00000216223.5	1.000000	0.710000	1	8.200000e-01	0.960000	0.929374	0.960000	1.000000																										0				23						c.(751-753)Ctc>Ttc		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						108.0	107.0	108.0					22																	37531435		2203	4300	6503	SO:0001583	missense	3560	0	0					g.chr22:37531435G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.751C>T	chr22.hg19:g.37531435G>A	ENSP00000216223:p.Leu251Phe	0					AL022314.1_ENST00000516333.1_RNA	p.L251F	NM_000878.3	NP_000869.1	1	2	3	2.015224	P14784	IL2RB_HUMAN		8	949	-			B2R765	Missense_Mutation	SNP	ENST00000216223.5	1	1	hg19	c.751C>T	CCDS13942.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420112|2.420112	0.42918|0.42918	.|.	.|.	ENSG00000100385|ENSG00000100385	ENST00000216223|ENST00000447922	D|.	0.97303|.	-4.33|.	3.75|3.75	-1.56|-1.56	0.08532|0.08532	3.75|3.75	-1.56|-1.56	0.08532|0.08532	.|.	2.483920|.	0.01435|.	N|.	0.014867|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.55055|.	0.767|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.87932|.	D|.	0|.	-11.4288|-11.4288	1.9921|1.9921	0.03448|0.03448	0.1071:0.1639:0.3579:0.3712|0.1071:0.1639:0.3579:0.3712	.|.	251|.	P14784|.	IL2RB_HUMAN|.	F|L	251|5	ENSP00000216223:L251F|.	ENSP00000216223:L251F|.	L|P	-|-	1|2	0|0	0|0	IL2RB|IL2RB	35861381|35861381	35861381|35861381	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	-0.235000|-0.235000	0.09016|0.09016	-0.275000|-0.275000	0.09219|0.09219	-0.311000|-0.311000	0.09066|0.09066	CTC|CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-11.698790	1	0.170000				46	45		531	515	0		1	0		0	0	78	0		1	7.044994e-01	0	0	0	30	0	46	531
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000255836.6_Silent_p.S145S|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657																																						ENST00000337843.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S269S(1)	large_intestine(1)	11						c.(805-807)agC>agT		C1q and tumor necrosis factor related protein 6							65.0	60.0	62.0					22																	37578258		2203	4300	6503	SO:0001819	synonymous_variant	114904	2	121412	36				g.chr22:37578258G>A	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.807C>T	chr22.hg19:g.37578258G>A		0					RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.S145S|C1QTNF6_ENST00000397110.2_Silent_p.S269S	p.S269S	NM_031910.3	NP_114116.3	1	2	3	2.015224	Q9BXI9	C1QT6_HUMAN		3	882	-			Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	1	1	hg19	c.807C>T	CCDS13943.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_182486			44	44		163	163	0		1	1		0	0	39	0		1	9.999461e-01	0	7	0	52	0	44	163
C1QTNF6	114904	broad.mit.edu	37	22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	239	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642																																						ENST00000337843.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(772-774)Tac>Cac		C1q and tumor necrosis factor related protein 6							80.0	71.0	74.0					22																	37578293		2203	4300	6503	SO:0001583	missense	114904	0	0					g.chr22:37578293A>G	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.772T>C	chr22.hg19:g.37578293A>G	ENSP00000338812:p.Tyr258His	0					RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H	p.Y258H	NM_031910.3	NP_114116.3	1	2	3	2.015224	Q9BXI9	C1QT6_HUMAN		3	847	-			Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	1	1	hg19	c.772T>C	CCDS13943.1	1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063942	0.55432	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.94	0.65067	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.73217	2.22	0.58432	D	0.999995	D;D	0.60575	0.959;0.988	P;P	0.61722	0.749;0.893	D	0.83886	0.0282	10	0.31617	T	0.26	.	14.6139	0.68534	1.0:0.0:0.0:0.0	.	258;239	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	258;258;134	ENSP00000380299:Y258H;ENSP00000338812:Y258H;ENSP00000255836:Y134H	ENSP00000255836:Y134H	Y	-	1	0	0	C1QTNF6	35908239	35908239	1.000000	0.71417	0.958000	0.39756	0.141000	0.21300	9.326000	0.96389	1.855000	0.53841	0.459000	0.35465	TAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_182486			46	46		194	193	1		1	1		0	0	41	0		1	9.999962e-01	0	13	0	70	0	46	194
SSTR3	6753	broad.mit.edu	37	22	37603573	37603573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37603573G>A	ENST00000328544.3	-	2	803	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SSTR3_ENST00000402501.1_Silent_p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	90					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGAAGAGCTCGTCGGCCAGCG	0.647																																						ENST00000328544.3	1.000000	0.150000	4.200000e-01	2.100000e-01	0.290000	0.360163	0.290000	0.270000																										0				14						c.(268-270)gaC>gaT		somatostatin receptor 3	Pasireotide(DB06663)						73.0	69.0	71.0					22																	37603573		2203	4300	6503	SO:0001819	synonymous_variant	6753	5	121402	41				g.chr22:37603573G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.270C>T	chr22.hg19:g.37603573G>A		0					SSTR3_ENST00000402501.1_Silent_p.D90D	p.D90D	NM_001051.3	NP_001042.1	1	2	3	2.015224	P32745	SSR3_HUMAN		2	803	-			A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	0	1	hg19	c.270C>T	CCDS13944.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.420223	1	0.170000				12	11		511	506	0		1	0		0	0	89	0		9.990685e-01	1.939669e-03	0	0	0	3	0	12	511
RAC2	5880	broad.mit.edu	37	22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000249071.6	-	2	209	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ATGTACTCTCCGGGAAAGGCG	0.617																																						ENST00000249071.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(88-90)Gga>Aga		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	Dextromethorphan(DB00514)						189.0	171.0	177.0					22																	37637646		2203	4300	6503	SO:0001583	missense	5880	0	0					g.chr22:37637646C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.88G>A	chr22.hg19:g.37637646C>T	ENSP00000249071:p.Gly30Arg	0					RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R	p.G30R	NM_002872.3	NP_002863.1	1	2	3	2.015224	P15153	RAC2_HUMAN		2	209	-			Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	1	1	hg19	c.88G>A	CCDS13945.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915662	0.52546	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.62	3.54	0.40534	5.62	3.54	0.40534	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	L	0.57130	1.785	0.80722	D	1	P	0.35944	0.529	B	0.35971	0.215	T	0.70539	-0.4844	10	0.87932	D	0	.	11.6402	0.51228	0.0:0.8554:0.0:0.1446	.	30	P15153	RAC2_HUMAN	R	30;23;30;30	ENSP00000249071:G30R;ENSP00000385590:G23R;ENSP00000403778:G30R;ENSP00000385666:G30R	ENSP00000249071:G30R	G	-	1	0	0	RAC2	35967592	35967592	1.000000	0.71417	0.577000	0.28562	0.080000	0.17528	7.548000	0.82154	0.744000	0.32741	-0.136000	0.14681	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-2.899377	1	0.170000				100	98		426	415	1		1	1		0	0	111	0		1	1	0	24	0	341	0	100	426
ELFN2	114794	broad.mit.edu	37	22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	711					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCGGGAAAGCTGTGCCGGTG	0.716																																						ENST00000402918.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999429	0.990000	1.000000																										0				35						c.(2131-2133)aGc>aAc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							25.0	25.0	25.0					22																	37769443		2192	4297	6489	SO:0001583	missense	114794	0	0					g.chr22:37769443C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2132G>A	chr22.hg19:g.37769443C>T	ENSP00000385277:p.Ser711Asn	0					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	p.S711N	NM_052906.3	NP_443138.2	1	2	3	2.015224	Q5R3F8	PPR29_HUMAN		3	2917	-	Melanoma(58;0.0574)		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	0	1	hg19	c.2132G>A	CCDS33642.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303815	0.81136	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.59772	0.24;0.24	4.93	3.88	0.44766	4.93	3.88	0.44766	.	0.226336	0.47093	D	0.000245	T	0.70159	0.3192	L	0.60455	1.87	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.73139	-0.4077	10	0.87932	D	0	-38.5943	11.9074	0.52719	0.0:0.5396:0.4604:0.0	.	711	Q5R3F8	PPR29_HUMAN	N	711	ENSP00000300147:S711N;ENSP00000385277:S711N	ENSP00000300147:S711N	S	-	2	0	0	ELFN2	36099389	36099389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.265000	0.75225	0.561000	0.74099	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_052906			15	14		73	71	1		1	1		0	0	12	0		9.998977e-01	4.257432e-01	0	4	0	4	0	15	73
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	639					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652																																						ENST00000402918.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(1915-1917)agC>agT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							13.0	12.0	12.0					22																	37769658		2176	4248	6424	SO:0001819	synonymous_variant	114794	0	0					g.chr22:37769658G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1917C>T	chr22.hg19:g.37769658G>A		0					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	p.S639S	NM_052906.3	NP_443138.2	1	2	3	2.015224	Q5R3F8	PPR29_HUMAN		3	2702	-	Melanoma(58;0.0574)		Q96PY3	Silent	SNP	ENST00000402918.2	1	1	hg19	c.1917C>T	CCDS33642.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_052906			28	27		109	107	0		1	0		0	0	14	0		1	4.470709e-02	0	1	0	1	0	28	109
ELFN2	114794	broad.mit.edu	37	22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	140					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCACCACCTCGATGAGGTTG	0.637																																						ENST00000402918.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(418-420)Gag>Aag		extracellular leucine-rich repeat and fibronectin type III domain containing 2							93.0	87.0	89.0					22																	37771157		2203	4300	6503	SO:0001583	missense	114794	0	0					g.chr22:37771157C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.418G>A	chr22.hg19:g.37771157C>T	ENSP00000385277:p.Glu140Lys	0					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	p.E140K	NM_052906.3	NP_443138.2	1	2	3	2.015224	Q5R3F8	PPR29_HUMAN		3	1203	-	Melanoma(58;0.0574)		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	1	1	hg19	c.418G>A	CCDS33642.1	1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197923	0.58126	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.52295	0.67;0.67	4.51	3.49	0.39957	4.51	3.49	0.39957	.	0.056392	0.64402	D	0.000002	T	0.53351	0.1791	L	0.33293	1	0.58432	D	0.999997	D	0.69078	0.997	D	0.63283	0.913	T	0.56001	-0.8051	10	0.62326	D	0.03	-24.9669	12.7421	0.57259	0.0:0.9189:0.0:0.0811	.	140	Q5R3F8	PPR29_HUMAN	K	140	ENSP00000300147:E140K;ENSP00000385277:E140K	ENSP00000300147:E140K	E	-	1	0	0	ELFN2	36101103	36101103	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.709000	0.84645	1.042000	0.40150	-0.346000	0.07831	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-3.092281	1	0.170000	NM_052906			117	115		484	479	1		1	0		0	0	111	0		1	0	0	0	0	1	0	117	484
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000406271.3_Missense_Mutation_p.S399L|CARD10_ENST00000251973.5_Missense_Mutation_p.S685L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637																																						ENST00000403299.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(2053-2055)tCg>tTg		caspase recruitment domain family, member 10		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65.0	57.0	60.0		2054	-1.8	0.0	22	dbSNP_134	60	0,8600		0,0,4300	no	missense	CARD10	NM_014550.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	685/1033	37892461	1,13005	2203	4300	6503	SO:0001583	missense	29775	2	121412	29				g.chr22:37892461G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2054C>T	chr22.hg19:g.37892461G>A	ENSP00000384570:p.Ser685Leu	0					CARD10_ENST00000406271.3_Missense_Mutation_p.S399L|CARD10_ENST00000251973.5_Missense_Mutation_p.S685L	p.S685L			1	2	3	2.015224	Q9BWT7	CAR10_HUMAN		14	2270	-	Melanoma(58;0.0574)		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	1	1	hg19	c.2054C>T	CCDS13948.1	1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208596	0.09757	2.27E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.39229	1.09;2.78;1.09;1.57	4.94	-1.77	0.07982	4.94	-1.77	0.07982	.	1.591350	0.03379	N	0.200117	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.07654	-1.0761	10	0.13470	T	0.59	-1.7014	2.3847	0.04363	0.1914:0.2315:0.4599:0.1172	.	685;399	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	685;399;685;326;157	ENSP00000384570:S685L;ENSP00000385799:S399L;ENSP00000251973:S685L;ENSP00000416239:S326L	ENSP00000251973:S685L	S	-	2	0	0	CARD10	36222407	36222407	0.000000	0.05858	0.038000	0.18304	0.719000	0.41307	-0.083000	0.11286	-0.149000	0.11215	0.561000	0.74099	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_014550			52	52		214	211	1		1	1		0	0	51	0		1	1	0	77	0	151	0	52	214
CDC42EP1	11135	broad.mit.edu	37	22	37962510	37962510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	ENST00000249014.4	+	2	574	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	52	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CATGCATGTGGGCCGTGGCGG	0.647																																						ENST00000249014.4	1.000000	0.210000	7.200000e-01	3.200000e-01	0.470000	0.526405	0.470000	0.430000																										0				15						c.(154-156)Ggc>Agc		CDC42 effector protein (Rho GTPase binding) 1							38.0	40.0	39.0					22																	37962510		2203	4300	6503	SO:0001583	missense	11135	0	0					g.chr22:37962510G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.154G>A	chr22.hg19:g.37962510G>A	ENSP00000249014:p.Gly52Ser	0						p.G52S	NM_152243.2	NP_689449.1	1	2	3	2.015224	Q00587	BORG5_HUMAN		2	574	+	Melanoma(58;0.0574)		A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	0	1	hg19	c.154G>A	CCDS13949.1	0	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690146	0.88735	.	.	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670	D;D;D	0.94092	-3.35;-3.35;-3.35	4.99	4.99	0.66335	4.99	4.99	0.66335	PAK-box/P21-Rho-binding (3);	0.070772	0.56097	D	0.000027	D	0.96552	0.8875	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.72032	D	0.01	-31.7756	18.6422	0.91399	0.0:0.0:1.0:0.0	.	52	Q00587	BORG5_HUMAN	S	52	ENSP00000249014:G52S;ENSP00000411682:G52S;ENSP00000405006:G52S	ENSP00000249014:G52S	G	+	1	0	0	CDC42EP1	36292456	36292456	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.828000	0.86729	2.465000	0.83290	0.563000	0.77884	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	0	0	1		2	2	2	0		0	0	36		36	33	1	2.060000	-9.949141	1	0.170000	NM_152243			8	8		210	206	0		1	1		0	0	36	0		9.889510e-01	9.961951e-01	0	14	0	259	0	8	210
GGA1	26088	broad.mit.edu	37	22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000343632.4	+	8	1013	c.627G>T	c.(625-627)gaG>gaT	p.E209D	GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000406772.1_Missense_Mutation_p.E136D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	209	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343632.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(625-627)gaG>gaT		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							185.0	178.0	181.0					22																	38019351		2203	4300	6503	SO:0001583	missense	26088	0	0					g.chr22:38019351G>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.627G>T	chr22.hg19:g.38019351G>T	ENSP00000341344:p.Glu209Asp	0		OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	GGA1_ENST00000406772.1_Missense_Mutation_p.E136D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D	p.E209D	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	1	2	3	2.015224	Q9UJY5	GGA1_HUMAN		8	1013	+	Melanoma(58;0.0574)		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	1	1	hg19	c.627G>T	CCDS13951.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256362	0.80246	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.05	0.359	0.16088	5.05	0.359	0.16088	GAT (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.87180	2.865	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.875	D;D;P	0.91635	0.999;0.995;0.627	T	0.61884	-0.6971	10	0.27082	T	0.32	-29.7801	10.6864	0.45846	0.3379:0.0:0.6621:0.0	.	226;209;209	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	D	209;226;209;176;201;136	ENSP00000341344:E209D;ENSP00000371175:E226D;ENSP00000321288:E209D;ENSP00000338647:E176D;ENSP00000390416:E201D;ENSP00000385287:E136D	ENSP00000321288:E209D	E	+	3	2	2	GGA1	36349297	36349297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.076000	0.57591	0.159000	0.19401	0.563000	0.77884	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	1	0	1		2	2	2	0		0	0	198		198	197	1	2.060000	-20.000000	1	0.170000	NM_013365			177	177		983	971	1		1	1		0	0	198	0		1	1	0	44	0	99	0	177	983
SH3BP1	23616	broad.mit.edu	37	22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000357436.4	+	5	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCTGGCCGAGTTTGAGAT	0.642											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357436.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(340-342)Gag>Aag		SH3-domain binding protein 1							63.0	55.0	58.0					22																	38038957		2203	4300	6503	SO:0001583	missense	23616	0	0					g.chr22:38038957G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.340G>A	chr22.hg19:g.38038957G>A	ENSP00000350018:p.Glu114Lys	0		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA	p.E114K	NM_018957.3	NP_061830.3	1	2	3	2.015224	Q9Y3L3	3BP1_HUMAN		5	653	+	Melanoma(58;0.0574)		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	1	1	hg19	c.340G>A	CCDS13952.2	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099966	0.76983	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.64618	-0.11;-0.11;-0.11	4.51	4.51	0.55191	4.51	4.51	0.55191	BAR (2);	0.111773	0.39274	N	0.001419	T	0.70753	0.3260	L	0.43152	1.355	0.42677	D	0.993533	P;D;D;D;D	0.89917	0.763;1.0;0.992;1.0;1.0	B;D;P;D;D	0.69824	0.245;0.966;0.557;0.966;0.966	T	0.68640	-0.5355	10	0.31617	T	0.26	.	15.5694	0.76323	0.0:0.0:1.0:0.0	.	114;28;50;114;28	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	114;114;114;28	ENSP00000350018:E114K;ENSP00000337213:E114K;ENSP00000395126:E114K	ENSP00000337213:E114K	E	+	1	0	0	SH3BP1	36368903	36368903	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.545000	0.53648	2.338000	0.79540	0.491000	0.48974	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-2.926536	1	0.170000	NM_018957			63	62		341	331	1		1	1		0	0	85	0		1	9.997710e-01	0	6	0	63	0	63	341
SH3BP1	23616	broad.mit.edu	37	22	38043329	38043329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000357436.4	+	12	1405	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000336738.5_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	364	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627																																						ENST00000357436.4	1.000000	0.250000	5.200000e-01	3.200000e-01	0.400000	0.458217	0.400000	0.380000																										0				13						c.(1090-1092)ctC>ctT		SH3-domain binding protein 1							114.0	113.0	113.0					22																	38043329		2203	4300	6503	SO:0001819	synonymous_variant	23616	0	0					g.chr22:38043329C>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1092C>T	chr22.hg19:g.38043329C>T		0					SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000336738.5_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	p.L364L	NM_018957.3	NP_061830.3	1	2	3	2.015224	Q9Y3L3	3BP1_HUMAN		12	1405	+	Melanoma(58;0.0574)		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	1	1	hg19	c.1092C>T	CCDS13952.2	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	0	1		2	2	2	0		0	0	142		142	139	1	2.060000	-2.707588	1	0.170000	NM_018957			23	22		683	674	0		1	1		0	0	142	0		9.999992e-01	6.378512e-01	0	2	0	63	0	23	683
SH3BP1	23616	broad.mit.edu	37	22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000357436.4	+	13	1482	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701																																						ENST00000357436.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(1168-1170)cGc>cAc		SH3-domain binding protein 1							14.0	19.0	17.0					22																	38043498		2200	4297	6497	SO:0001583	missense	23616	0	0					g.chr22:38043498G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1169G>A	chr22.hg19:g.38043498G>A	ENSP00000350018:p.Arg390His	0					SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	p.R390H	NM_018957.3	NP_061830.3	1	2	3	2.015224	Q9Y3L3	3BP1_HUMAN		13	1482	+	Melanoma(58;0.0574)		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	1	1	hg19	c.1169G>A	CCDS13952.2	1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683971	0.29872	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18960	2.18;2.18;2.18	5.52	3.42	0.39159	5.52	3.42	0.39159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.214766	0.32624	N	0.005850	T	0.36853	0.0982	L	0.53249	1.67	0.09310	N	1	B;D;B;P;D	0.89917	0.043;1.0;0.047;0.919;1.0	B;D;B;B;D	0.74348	0.013;0.983;0.012;0.189;0.983	T	0.04961	-1.0915	10	0.72032	D	0.01	.	9.3123	0.37912	0.2242:0.0:0.7758:0.0	.	390;304;326;390;304	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	390;390;390;304	ENSP00000350018:R390H;ENSP00000337213:R390H;ENSP00000395126:R390H	ENSP00000337213:R390H	R	+	2	0	0	SH3BP1	36373444	36373444	0.037000	0.19845	0.997000	0.53966	0.303000	0.27691	1.677000	0.37576	1.353000	0.45828	-0.439000	0.05793	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_018957			34	33		153	146	0		1	1		0	0	32	0		1	9.999143e-01	0	22	0	47	0	34	153
TRIOBP	11078	broad.mit.edu	37	22	38120147	38120147	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					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)			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)					ACCCCAGAACATCCTGCGCCC	0.597																																						ENST00000406386.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				12						c.(1582-1584)acA>acG		TRIO and F-actin binding protein							63.0	104.0	91.0					22																	38120147		1931	4157	6088	SO:0001819	synonymous_variant	11078	0	0					g.chr22:38120147A>G	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.1584A>G	chr22.hg19:g.38120147A>G		0						p.T528T	NM_001039141.2	NP_001034230.1	1	2	3	2.015224	Q9H2D6	TARA_HUMAN		7	1839	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	1	1	hg19	c.1584A>G	CCDS43015.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	0		2	2	2	0		0	0	290		290	0	1	2.060000	-20.000000	1	0.170000				112	0		861	0	0			0		0	0	290	0		0	0	0	1	0	0	0	112	861
TRIOBP	11078	broad.mit.edu	37	22	38165063	38165063	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2202					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)			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)					GAAGCGAGAGCTGCAGGTGCT	0.622																																						ENST00000406386.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(6604-6606)Ctg>Ttg		TRIO and F-actin binding protein							49.0	55.0	53.0					22																	38165063		2186	4298	6484	SO:0001819	synonymous_variant	11078	1	121336	24				g.chr22:38165063C>T	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.6604C>T	chr22.hg19:g.38165063C>T		0					TRIOBP_ENST00000403663.2_Silent_p.L489L	p.L2202L	NM_001039141.2	NP_001034230.1	1	2	3	2.015224	Q9H2D6	TARA_HUMAN		20	6859	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	1	1	hg19	c.6604C>T	CCDS43015.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				53	53		290	287	1		1	1		0	0	85	0		1	1	0	51	0	91	0	53	290
GCAT	23464	broad.mit.edu	37	22	38208974	38208974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000248924.6	+	3	464	c.408C>T	c.(406-408)gaC>gaT	p.D136D	GCAT_ENST00000323205.6_Silent_p.D162D|GCAT_ENST00000415371.1_3'UTR	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	136					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GCTGTTATGACGCCAACGCCG	0.567																																						ENST00000248924.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(406-408)gaC>gaT		glycine C-acetyltransferase	Glycine(DB00145)						86.0	77.0	80.0					22																	38208974		2203	4300	6503	SO:0001819	synonymous_variant	23464	1	121412	30				g.chr22:38208974C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.408C>T	chr22.hg19:g.38208974C>T		0					GCAT_ENST00000323205.6_Silent_p.D162D|GCAT_ENST00000415371.1_3'UTR	p.D136D	NM_014291.3	NP_055106.1	1	2	3	2.015224	O75600	KBL_HUMAN		3	464	+	Melanoma(58;0.045)		E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	1	1	hg19	c.408C>T	CCDS13957.1	1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176494	0.09443	.	.	ENSG00000100116	ENST00000451984	.	.	.	5.73	1.01	0.19927	5.73	1.01	0.19927	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49466	-0.8937	4	.	.	.	-19.321	8.9862	0.35994	0.0:0.2989:0.0:0.7011	.	.	.	.	M	121	.	.	T	+	2	0	0	GCAT	36538920	36538920	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	0.826000	0.27407	0.112000	0.17975	-0.290000	0.09829	ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_014291.2			67	66		347	338	1		1	1		0	0	81	0		1	9.997415e-01	0	26	0	39	0	67	347
ANKRD54	129138	broad.mit.edu	37	22	38228671	38228671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38228671G>A	ENST00000215941.4	-	7	993	c.801C>T	c.(799-801)cgC>cgT	p.R267R	ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000609454.1_Silent_p.R74R|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267					nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCATCTGCAGGCGGGTGCAGA	0.617																																						ENST00000215941.4	1.000000	0.140000	4.500000e-01	2.000000e-01	0.300000	0.370063	0.300000	0.280000																										0				1						c.(799-801)cgC>cgT		ankyrin repeat domain 54							85.0	76.0	79.0					22																	38228671		2203	4300	6503	SO:0001819	synonymous_variant	129138	3	121412	34				g.chr22:38228671G>A	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.801C>T	chr22.hg19:g.38228671G>A		0					ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000609454.1_Silent_p.R74R	p.R267R	NM_138797.2	NP_620152.1	1	2	3	2.015224	Q6NXT1	ANR54_HUMAN		7	993	-	Melanoma(58;0.045)		Q6ZSB1|Q9UGV1	Silent	SNP	ENST00000215941.4	0	1	hg19	c.801C>T	CCDS13959.1	0	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581820	0.03827	.	.	ENSG00000100124	ENST00000458278	.	.	.	5.59	0.318	0.15867	5.59	0.318	0.15867	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-2.3947	5.602	0.17359	0.1421:0.3334:0.4339:0.0905	.	.	.	.	V	183	.	.	A	-	2	0	0	ANKRD54	36558617	36558617	1.000000	0.71417	0.993000	0.49108	0.085000	0.17905	2.009000	0.40903	0.025000	0.15241	-0.813000	0.03139	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-8.694839	1	0.170000	NM_138797			9	9		377	369	0		1	1		0	0	66	0		9.937047e-01	7.134314e-01	0	11	0	93	0	9	377
EIF3L	51386	broad.mit.edu	37	22	38273869	38273869	+	Silent	SNP	G	G	A	rs536868063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507																																						ENST00000412331.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1264-1266)tcG>tcA		eukaryotic translation initiation factor 3, subunit L							73.0	63.0	67.0					22																	38273869		2203	4300	6503	SO:0001819	synonymous_variant	51386	1	121412	27				g.chr22:38273869G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1266G>A	chr22.hg19:g.38273869G>A		0					EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	p.S422S	NM_016091.3	NP_057175.1	1	2	3	2.015224				11	1848	+				Silent	SNP	ENST00000412331.2	1	1	hg19	c.1266G>A	CCDS13960.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	1	0	1		2	2	2	0		0	0	81		81	82	1	2.060000	-20.000000	1	0.170000	NM_016091			68	66		340	319	1		1	1	1	0	0	81	296		1	1	1	373	57	1143	233	68	340
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.A78T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592													G|||	6	0.00119808	0.0038	0.0	5008	,	,		17461	0.001		0.0	False		,,,				2504	0.0					ENST00000215957.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A78T(1)	large_intestine(1)	24						c.(232-234)Gct>Act		MICAL-like 1		G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	80.0	71.0	74.0		232	4.7	1.0	22	dbSNP_132	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	58	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	78/864	38308394	7,12999	2203	4300	6503	SO:0001583	missense	85377	33	121412	46				g.chr22:38308394G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.232G>A	chr22.hg19:g.38308394G>A	ENSP00000215957:p.Ala78Thr	0						p.A78T	NM_033386.3	NP_203744.1	1	2	3	2.015224	Q8N3F8	MILK1_HUMAN		3	358	+	Melanoma(58;0.045)		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	1	1	hg19	c.232G>A	CCDS13961.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	0	MICALL1	36638340	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-3.155154	1	0.170000	NM_033386			66	64		319	313	1		1	1		0	0	85	0		1	9.914076e-01	0	8	0	30	0	66	319
MICALL1	85377	broad.mit.edu	37	22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	87	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GACATGGTCTCCATGAGCGTC	0.592																																						ENST00000215957.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(259-261)tCc>tAc		MICAL-like 1							101.0	87.0	92.0					22																	38308422		2203	4300	6503	SO:0001583	missense	85377	0	0					g.chr22:38308422C>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.260C>A	chr22.hg19:g.38308422C>A	ENSP00000215957:p.Ser87Tyr	0						p.S87Y	NM_033386.3	NP_203744.1	1	2	3	2.015224	Q8N3F8	MILK1_HUMAN		3	386	+	Melanoma(58;0.045)		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	1	1	hg19	c.260C>A	CCDS13961.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000656	0.74818	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;D	0.94184	-0.82;-3.37	4.81	3.78	0.43462	4.81	3.78	0.43462	Calponin homology domain (5);	0.462106	0.18277	N	0.146127	D	0.95529	0.8547	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95483	0.8562	10	0.59425	D	0.04	.	15.5965	0.76587	0.0:0.8619:0.138:0.0	.	87	Q8N3F8	MILK1_HUMAN	Y	3;87	ENSP00000404543:S3Y;ENSP00000215957:S87Y	ENSP00000215957:S87Y	S	+	2	0	0	MICALL1	36638368	36638368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.958000	0.49145	1.387000	0.46486	0.632000	0.83419	TCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-3.856785	1	0.170000	NM_033386			89	89		335	332	1		1	1		0	0	89	0		1	9.981350e-01	0	5	0	33	0	89	335
MICALL1	85377	broad.mit.edu	37	22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ATGTGTCCCAGTATTACAACC	0.602																																						ENST00000215957.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999784	0.990000	1.000000																										0				24						c.(304-306)caG>caT		MICAL-like 1							107.0	95.0	99.0					22																	38308468		2203	4300	6503	SO:0001583	missense	85377	0	0					g.chr22:38308468G>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.306G>T	chr22.hg19:g.38308468G>T	ENSP00000215957:p.Gln102His	0						p.Q102H	NM_033386.3	NP_203744.1	1	2	3	2.015224	Q8N3F8	MILK1_HUMAN		3	432	+	Melanoma(58;0.045)		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	1	1	hg19	c.306G>T	CCDS13961.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513329	0.85389	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	D;D	0.95377	-2.12;-3.69	4.81	3.78	0.43462	4.81	3.78	0.43462	Calponin homology domain (5);	0.563079	0.15342	N	0.267424	D	0.97701	0.9246	M	0.89414	3.03	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.97047	0.9761	10	0.37606	T	0.19	.	13.8851	0.63704	0.0744:0.0:0.9256:0.0	.	102	Q8N3F8	MILK1_HUMAN	H	18;102	ENSP00000404543:Q18H;ENSP00000215957:Q102H	ENSP00000215957:Q102H	Q	+	3	2	2	MICALL1	36638414	36638414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.548000	0.67255	1.395000	0.46643	0.632000	0.83419	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_033386			52	51		381	373	1		1	1		0	0	87	0		1	9.810611e-01	0	2	0	46	0	52	381
MICALL1	85377	broad.mit.edu	37	22	38323737	38323737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	595	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCCAGCCAAGCCCTGCAGTG	0.642																																						ENST00000215957.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1783-1785)aaG>aaA		MICAL-like 1							68.0	76.0	73.0					22																	38323737		2203	4300	6503	SO:0001819	synonymous_variant	85377	0	0					g.chr22:38323737G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1785G>A	chr22.hg19:g.38323737G>A		0					MICALL1_ENST00000402631.1_3'UTR	p.K595K	NM_033386.3	NP_203744.1	1	2	3	2.015224	Q8N3F8	MILK1_HUMAN		9	1911	+	Melanoma(58;0.045)		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	1	1	hg19	c.1785G>A	CCDS13961.1	1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032402	0.07543	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	.	.	.	.	T	0.75079	0.3801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73723	-0.3893	4	.	.	.	.	19.1255	0.93382	0.0:0.0:1.0:0.0	.	.	.	.	T	173	.	.	A	+	1	0	0	MICALL1	36653683	36653683	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.334000	0.52097	2.513000	0.84729	0.555000	0.69702	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-20.000000	1	0.170000	NM_033386			164	161		714	707	0		1	1		0	0	125	0		1	9.997937e-01	0	12	0	43	0	164	714
PICK1	9463	broad.mit.edu	37	22	38470346	38470346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	289	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404072.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(865-867)acC>acT		protein interacting with PRKCA 1							27.0	30.0	29.0					22																	38470346		2203	4298	6501	SO:0001819	synonymous_variant	9463	1	121292	34				g.chr22:38470346C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.867C>T	chr22.hg19:g.38470346C>T		0		OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	PICK1_ENST00000356976.3_Silent_p.T289T|RP5-1039K5.13_ENST00000445483.1_RNA	p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	1	2	3	2.015224	Q9NRD5	PICK1_HUMAN		12	1214	+	Melanoma(58;0.045)		B3KS52|O95906	Silent	SNP	ENST00000404072.3	1	1	hg19	c.867C>T	CCDS13965.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	1	0	1		2	2	2	0		0	0	41		41	38	1	2.060000	-3.440681	1	0.170000	NM_012407			56	55		235	227	0		1	1		0	0	41	0		1	9.999997e-01	0	32	0	65	0	56	235
BAIAP2L2	80115	broad.mit.edu	37	22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	40	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637																																						ENST00000381669.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(118-120)Gcc>Acc		BAI1-associated protein 2-like 2							59.0	66.0	64.0					22																	38505149		1995	4162	6157	SO:0001583	missense	80115	1	120796	24				g.chr22:38505149C>T	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.118G>A	chr22.hg19:g.38505149C>T	ENSP00000371085:p.Ala40Thr	0					BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	p.A40T	NM_025045.4	NP_079321.3	1	2	3	2.015224	Q6UXY1	BI2L2_HUMAN		2	262	-	Melanoma(58;0.045)		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	1	1	hg19	c.118G>A	CCDS43018.1	1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	5.03	3.97	0.46021	5.03	3.97	0.46021	IRSp53/MIM homology domain (IMD) (3);	0.055036	0.64402	D	0.000001	T	0.67173	0.2865	M	0.80616	2.505	0.58432	D	0.999999	P	0.35872	0.525	B	0.39258	0.295	T	0.71573	-0.4552	9	0.66056	D	0.02	-1.8304	14.3751	0.66867	0.1494:0.8506:0.0:0.0	.	40	Q6UXY1	BI2L2_HUMAN	T	40	.	ENSP00000328876:A40T	A	-	1	0	0	BAIAP2L2	36835095	36835095	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.721000	0.54941	1.034000	0.39945	0.313000	0.20887	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-3.278430	1	0.170000	NM_025045			47	45		228	223	1		1	1		0	0	69	0		1	1	0	135	0	139	0	47	228
PLA2G6	8398	broad.mit.edu	37	22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	620	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)			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)	AGCTGGAGGCCTGAGGTTAAC	0.582																																						ENST00000332509.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1858-1860)aGg>aTg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						71.0	68.0	69.0					22																	38512102		2203	4300	6503	SO:0001583	missense	8398	0	0					g.chr22:38512102C>A	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.1859G>T	chr22.hg19:g.38512102C>A	ENSP00000333142:p.Arg620Met	0					PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M	p.R620M	NM_003560.2	NP_003551.2	1	2	3	2.015224	O60733	PLPL9_HUMAN		13	2042	-	Melanoma(58;0.045)		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	1	1	hg19	c.1859G>T	CCDS13967.1	1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285178	0.40394	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80480	-1.38;-1.38;-1.38	4.57	-2.08	0.07254	4.57	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.372399	0.30771	N	0.008917	T	0.78761	0.4334	M	0.67700	2.07	0.25226	N	0.989869	B;P	0.37176	0.32;0.586	B;P	0.46419	0.176;0.516	T	0.72077	-0.4399	10	0.62326	D	0.03	-17.3447	6.2876	0.21041	0.0:0.3876:0.1364:0.476	.	566;620	O60733-2;O60733	.;PA2G6_HUMAN	M	620;481;566;566	ENSP00000333142:R620M;ENSP00000335149:R566M;ENSP00000386100:R566M	ENSP00000333142:R620M	R	-	2	0	0	PLA2G6	36842048	36842048	0.034000	0.19679	0.497000	0.27552	0.065000	0.16274	0.078000	0.14761	-0.412000	0.07519	-0.258000	0.10820	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_001004426			53	50		239	237	1		1	1		0	0	64	0		1	7.510461e-01	0	3	0	11	0	53	239
PLA2G6	8398	broad.mit.edu	37	22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000490473.1_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	562	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)			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)	CTTCAGGAACTCCTCCAGGGG	0.622																																						ENST00000332509.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1684-1686)gAg>gGg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						85.0	85.0	85.0					22																	38516823		2203	4300	6503	SO:0001583	missense	8398	0	0					g.chr22:38516823T>C	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.1685A>G	chr22.hg19:g.38516823T>C	ENSP00000333142:p.Glu562Gly	0					PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	p.E562G	NM_003560.2	NP_003551.2	1	2	3	2.015224	O60733	PLPL9_HUMAN		12	1868	-	Melanoma(58;0.045)		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	1	1	hg19	c.1685A>G	CCDS13967.1	1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641152	0.47153	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78364	-1.17;-1.17;-1.17	5.45	5.45	0.79879	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.164580	0.53938	N	0.000044	D	0.83936	0.5362	L	0.58101	1.795	0.80722	D	1	D;B	0.63880	0.993;0.004	P;B	0.60886	0.88;0.016	D	0.83691	0.0177	10	0.40728	T	0.16	-41.0939	15.5648	0.76281	0.0:0.0:0.0:1.0	.	508;562	O60733-2;O60733	.;PA2G6_HUMAN	G	562;423;508;508	ENSP00000333142:E562G;ENSP00000335149:E508G;ENSP00000386100:E508G	ENSP00000333142:E562G	E	-	2	0	0	PLA2G6	36846769	36846769	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.272000	0.78516	2.071000	0.62044	0.454000	0.30748	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	0	0	1		2	2	2	0		0	0	137		137	134	1	2.060000	-20.000000	1	0.170000	NM_001004426			104	104		603	588	1		1	1		0	0	137	0		1	7.057754e-01	0	3	0	13	0	104	603
PLA2G6	8398	broad.mit.edu	37	22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N|PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	295					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)			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)	CCTCTGCGTTCTTGGCCCAGT	0.657																																						ENST00000332509.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(883-885)aaG>aaT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						42.0	43.0	43.0					22																	38531004		2203	4300	6503	SO:0001583	missense	8398	0	0					g.chr22:38531004C>A	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.885G>T	chr22.hg19:g.38531004C>A	ENSP00000333142:p.Lys295Asn	0					PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N|PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N	p.K295N	NM_003560.2	NP_003551.2	1	2	3	2.015224	O60733	PLPL9_HUMAN		6	1068	-	Melanoma(58;0.045)		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	1	1	hg19	c.885G>T	CCDS13967.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862454|2.862454	0.51482|0.51482	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.67|5.67	2.51|2.51	0.30379|0.30379	5.67|5.67	2.51|2.51	0.30379|0.30379	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13098|0.13098	0.295|0.295	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;0.993|.	D;D;D|.	0.91635|.	0.999;0.997;0.917|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.25106|.	T|.	0.35|.	-42.4992|-42.4992	8.61|8.61	0.33797|0.33797	0.0:0.6465:0.0:0.3535|0.0:0.6465:0.0:0.3535	.|.	260;295;295|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	N|I	295;156;295;295;223;295;260|100;47;126	ENSP00000333142:K295N;ENSP00000335149:K295N;ENSP00000386100:K295N|.	ENSP00000333142:K295N|.	K|R	-|-	3|2	2|0	2|0	PLA2G6|PLA2G6	36860950|36860950	36860950|36860950	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.453000|0.453000	0.32348|0.32348	0.802000|0.802000	0.27069|0.27069	0.352000|0.352000	0.24053|0.24053	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	1	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_001004426			37	35		164	162	1		1	1		0	0	59	0		1	5.204254e-01	0	2	0	7	0	37	164
PLA2G6	8398	broad.mit.edu	37	22	38531055	38531055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531055C>A	ENST00000332509.3	-	6	1017	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	278					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)			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)	TGCTGTGGATCTGGCTGCTGT	0.647																																						ENST00000332509.3	1.000000	0.170000	6.200000e-01	2.600000e-01	0.390000	0.459447	0.390000	0.360000																										0				24						c.(832-834)caG>caT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						78.0	73.0	75.0					22																	38531055		2203	4300	6503	SO:0001583	missense	8398	0	0					g.chr22:38531055C>A	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.834G>T	chr22.hg19:g.38531055C>A	ENSP00000333142:p.Gln278His	0					PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H	p.Q278H	NM_003560.2	NP_003551.2	1	2	3	2.015224	O60733	PLPL9_HUMAN		6	1017	-	Melanoma(58;0.045)		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	0	1	hg19	c.834G>T	CCDS13967.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.571138|4.571138	0.86542|0.86542	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.64803|.	-0.12;-0.12;-0.12|.	5.67|5.67	4.65|4.65	0.58169|0.58169	5.67|5.67	4.65|4.65	0.58169|0.58169	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62048|0.62048	0.2396|0.2396	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.997;0.94|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.49607|.	T|.	0.09|.	-36.4843|-36.4843	14.9064|14.9064	0.70724|0.70724	0.0:0.9304:0.0:0.0696|0.0:0.9304:0.0:0.0696	.|.	243;278;278|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	H|I	278;139;278;278;206;278;243|83;30;109	ENSP00000333142:Q278H;ENSP00000335149:Q278H;ENSP00000386100:Q278H|.	ENSP00000333142:Q278H|.	Q|R	-|-	3|2	2|0	2|0	PLA2G6|PLA2G6	36861001|36861001	36861001|36861001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.159000|4.159000	0.58157|0.58157	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	CAG|AGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	0	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-8.429846	1	0.170000	NM_001004426			7	7		223	217	0		1	0		0	0	63	0		9.791932e-01	7.641060e-02	0	0	0	13	0	7	223
MAFF	23764	broad.mit.edu	37	22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000538320.1_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	33					blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					GATGGGGCTGTCGGTGCGCGA	0.672																																						ENST00000338483.2	1.000000	0.780000	1	9.900000e-01	0.990000	0.981780	0.990000	1.000000																										0				3						c.(97-99)Tcg>Ccg		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							18.0	19.0	19.0					22																	38610487		2142	4215	6357	SO:0001583	missense	23764	0	0					g.chr22:38610487T>C	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.97T>C	chr22.hg19:g.38610487T>C	ENSP00000345393:p.Ser33Pro	0					MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000538320.1_Missense_Mutation_p.S33P	p.S33P			1	2	3	2.015224	Q9ULX9	MAFF_HUMAN		3	459	+	Melanoma(58;0.045)		B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	1	1	hg19	c.97T>C	CCDS13968.1	1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644350	0.87859	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	3.92	3.92	0.45320	3.92	3.92	0.45320	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.077114	0.53938	D	0.000044	D	0.95127	0.8421	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93992	0.7268	10	0.32370	T	0.25	-5.0985	12.7691	0.57410	0.0:0.0:0.0:1.0	.	33	Q9ULX9	MAFF_HUMAN	P	33;33;4;4;33;33;33	ENSP00000345393:S33P;ENSP00000442060:S33P;ENSP00000441482:S4P;ENSP00000391589:S4P;ENSP00000416493:S33P;ENSP00000388882:S33P;ENSP00000384094:S33P	ENSP00000345393:S33P	S	+	1	0	0	MAFF	36940433	36940433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.154000	0.71826	1.404000	0.46819	0.374000	0.22700	TCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_001161572			19	19		165	160	1		1	1		0	0	26	0		9.999912e-01	9.999829e-01	0	56	0	111	0	19	165
MAFF	23764	broad.mit.edu	37	22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538320.1_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	57	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					CAGCGGCGCCGCACACTCAAA	0.682																																						ENST00000338483.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				3						c.(169-171)cGc>cAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							12.0	13.0	13.0					22																	38610560		2200	4290	6490	SO:0001583	missense	23764	0	0					g.chr22:38610560G>A	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.170G>A	chr22.hg19:g.38610560G>A	ENSP00000345393:p.Arg57His	0					MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000538320.1_Missense_Mutation_p.R57H	p.R57H			1	2	3	2.015224	Q9ULX9	MAFF_HUMAN		3	532	+	Melanoma(58;0.045)		B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	0	1	hg19	c.170G>A	CCDS13968.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.570085	0.96540	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	3.92	3.92	0.45320	3.92	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99811	1.1041	10	0.87932	D	0	-9.8937	15.9272	0.79628	0.0:0.0:1.0:0.0	.	57	Q9ULX9	MAFF_HUMAN	H	57;57;28;28;57;57;57	ENSP00000345393:R57H;ENSP00000442060:R57H;ENSP00000441482:R28H;ENSP00000391589:R28H;ENSP00000416493:R57H;ENSP00000388882:R57H;ENSP00000384094:R57H	ENSP00000345393:R57H	R	+	2	0	0	MAFF	36940506	36940506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.670000	0.98625	1.719000	0.51432	0.455000	0.32223	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_001161572			21	21		78	76	0		1	1		0	0	12	0		9.999988e-01	9.999983e-01	0	44	0	50	0	21	78
TMEM184B	25829	broad.mit.edu	37	22	38643832	38643832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	ENST00000361906.3	-	2	344	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	46						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ATGGCCTGAGCGGCAGTTGTC	0.637																																						ENST00000361906.3	1.000000	0.160000	7.300000e-01	2.700000e-01	0.440000	0.501749	0.440000	0.380000																										0				8						c.(136-138)Gct>Act		transmembrane protein 184B							59.0	51.0	54.0					22																	38643832		2203	4300	6503	SO:0001583	missense	25829	0	0					g.chr22:38643832C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.136G>A	chr22.hg19:g.38643832C>T	ENSP00000355210:p.Ala46Thr	0					TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	1	2	3	2.015224	Q9Y519	T184B_HUMAN		2	344	-	Melanoma(58;0.045)		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	0	1	hg19	c.136G>A	CCDS13969.2	0	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772239	0.90108	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.44083	0.93;0.93	4.66	3.64	0.41730	4.66	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80982	2.52	0.80722	D	1	D	0.61080	0.989	P	0.62491	0.903	T	0.64019	-0.6505	10	0.44086	T	0.13	.	12.9039	0.58141	0.0:0.9207:0.0:0.0793	.	46	Q9Y519	T184B_HUMAN	T	46	ENSP00000355210:A46T;ENSP00000354441:A46T	ENSP00000354441:A46T	A	-	1	0	0	TMEM184B	36973778	36973778	1.000000	0.71417	0.141000	0.22245	0.966000	0.64601	5.569000	0.67391	0.960000	0.38005	0.491000	0.48974	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-7.320361	1	0.170000	NM_012264			5	5		147	145	0		1	1		0	0	21	0		9.364136e-01	9.885793e-01	0	6	0	256	0	5	147
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627																																						ENST00000303592.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(490-492)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 4							62.0	56.0	58.0					22																	38823648		2203	4300	6503	SO:0001583	missense	3761	0	0					g.chr22:38823648C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.490G>A	chr22.hg19:g.38823648C>T	ENSP00000306497:p.Asp164Asn	0					RP3-434P1.6_ENST00000433230.1_RNA	p.D164N	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	1	2	3	2.015224	P48050	KCNJ4_HUMAN		2	748	-	Melanoma(58;0.0286)		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	1	1	hg19	c.490G>A	CCDS13971.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398230	0.62177	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93955	0.7235	10	0.26408	T	0.33	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	164	P48050	IRK4_HUMAN	N	164	ENSP00000306497:D164N	ENSP00000306497:D164N	D	-	1	0	0	KCNJ4	37153594	37153594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.472000	0.83506	0.555000	0.69702	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_004981			62	62		247	247	1		1			0	0	55	0		1	0	0	0	0	0	0	62	247
KCNJ4	3761	broad.mit.edu	37	22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	88					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCTGGCCTCCAGGTCACCG	0.672																																						ENST00000303592.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(262-264)Gag>Tag		potassium inwardly-rectifying channel, subfamily J, member 4							39.0	29.0	32.0					22																	38823876		2203	4299	6502	SO:0001587	stop_gained	3761	0	0					g.chr22:38823876C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.262G>T	chr22.hg19:g.38823876C>A	ENSP00000306497:p.Glu88*	0					RP3-434P1.6_ENST00000433230.1_RNA	p.E88*	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	1	2	3	2.015224	P48050	KCNJ4_HUMAN		2	520	-	Melanoma(58;0.0286)		Q14D44	Nonsense_Mutation	SNP	ENST00000303592.3	0	1	hg19	c.262G>T	CCDS13971.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.695931	0.96802	.	.	ENSG00000168135	ENST00000303592	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	13.954000	0.01991	U	0.045513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.7734	0.63039	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000306497:E88X	E	-	1	0	0	KCNJ4	37153822	37153822	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.020000	0.70826	2.392000	0.81423	0.555000	0.69702	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	0		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_004981			54	49		232	218	1		1			0	0	40	0		1	0	0	0	0	0	0	54	232
DMC1	11144	broad.mit.edu	37	22	38933650	38933650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	261					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318								Homologous recombination																														ENST00000216024.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(781-783)aaC>aaT	Homologous recombination	DNA meiotic recombinase 1							74.0	76.0	75.0					22																	38933650		2203	4300	6503	SO:0001819	synonymous_variant	11144	0	0					g.chr22:38933650G>A	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.783C>T	chr22.hg19:g.38933650G>A		0					DMC1_ENST00000428462.2_Silent_p.N206N	p.N261N	NM_007068.2	NP_008999.2	1	2	3	2.015224	Q14565	DMC1_HUMAN		12	1059	-	Melanoma(58;0.0286)		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	1	1	hg19	c.783C>T	CCDS13973.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_007068			63	59		298	288	1		1	0		0	0	49	0		1	0	0	1	0	0	0	63	298
CBY1	25776	broad.mit.edu	37	22	39067160	39067160	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567																																						ENST00000216029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(268-270)ctC>ctA		chibby homolog 1 (Drosophila)							139.0	134.0	136.0					22																	39067160		2203	4300	6503	SO:0001819	synonymous_variant	25776	0	0					g.chr22:39067160C>A	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.270C>A	chr22.hg19:g.39067160C>A		0					RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA	p.L90L	NM_015373.3	NP_056188.1	1	2	3	2.015224	Q9Y3M2	CBY1_HUMAN		4	404	+	Melanoma(58;0.04)		B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	1	1	hg19	c.270C>A	CCDS13974.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-3.406589	1	0.170000	NM_015373			114	114		447	442	1		1	1		0	0	107	0		1	1	0	45	0	99	0	114	447
SUN2	25777	broad.mit.edu	37	22	39135889	39135889	+	Silent	SNP	G	G	A	rs199929528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000405018.1_Silent_p.R493R|SUN2_ENST00000406622.1_Silent_p.R472R|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000411587.2_Silent_p.R461R|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.R472R|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	472					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCCACGCGGCCCCCTC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0					ENST00000405510.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1414-1416)cgC>cgT		Sad1 and UNC84 domain containing 2							74.0	84.0	81.0					22																	39135889		2203	4300	6503	SO:0001819	synonymous_variant	25777	2	121408	35				g.chr22:39135889G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1416C>T	chr22.hg19:g.39135889G>A		0					SUN2_ENST00000405018.1_Silent_p.R493R|RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000406622.1_Silent_p.R472R|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.R472R	p.R472R	NM_001199580.1	NP_001186509.1	1	2	3	2.015224	Q9UH99	SUN2_HUMAN		14	1774	-			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	1	1	hg19	c.1416C>T	CCDS13978.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	1	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-20.000000	1	0.170000	XM_039332			150	149		742	732	1		1	1		0	0	164	0		1	1	0	100	0	375	0	150	742
SUN2	25777	broad.mit.edu	37	22	39141701	39141701	+	Silent	SNP	C	C	T	rs374425217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141701C>T	ENST00000405510.1	-	9	1159	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SUN2_ENST00000405018.1_Silent_p.S288S|SUN2_ENST00000406622.1_Silent_p.S267S|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000411587.2_Silent_p.S256S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.S267S|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	267					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAAATGTGGCGATGAGTCTC	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19314	0.0		0.001	False		,,,				2504	0.0					ENST00000405510.1	1.000000	0.180000	6.100000e-01	2.700000e-01	0.400000	0.458926	0.400000	0.360000																										0				15						c.(799-801)tcG>tcA		Sad1 and UNC84 domain containing 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	75.0	69.0	71.0		864,801,801	-0.2	0.0	22		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SUN2	NM_001199579.1,NM_001199580.1,NM_015374.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	288/739,267/718,267/718	39141701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25777	5	121412	37				g.chr22:39141701C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.801G>A	chr22.hg19:g.39141701C>T		0					SUN2_ENST00000405018.1_Silent_p.S288S|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000406622.1_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.S267S	p.S267S	NM_001199580.1	NP_001186509.1	1	2	3	2.015224	Q9UH99	SUN2_HUMAN		9	1159	-			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	0	1	hg19	c.801G>A	CCDS13978.1	0	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492060	0.01009	2.27E-4	0.0	ENSG00000100242	ENST00000430185	.	.	.	4.76	-0.16	0.13375	4.76	-0.16	0.13375	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	-6.1881	7.6254	0.28210	0.0:0.2975:0.402:0.3005	.	.	.	.	H	124	.	.	R	-	2	0	0	SUN2	37471647	37471647	0.273000	0.24181	0.002000	0.10522	0.005000	0.04900	0.829000	0.27449	0.100000	0.17581	-1.602000	0.00811	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-3.638271	1	0.170000	XM_039332			8	8		252	244	0		1	1		0	0	48	0		9.882779e-01	9.995627e-01	0	20	0	478	0	8	252
SUN2	25777	broad.mit.edu	37	22	39141735	39141735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141735C>T	ENST00000405510.1	-	9	1125	c.767G>A	c.(766-768)aGg>aAg	p.R256K	SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	256					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCATCCGGCCTCCTGCTGTC	0.567																																						ENST00000405510.1	1.000000	0.150000	6.100000e-01	2.400000e-01	0.380000	0.444972	0.380000	0.330000																										0				15						c.(766-768)aGg>aAg		Sad1 and UNC84 domain containing 2							69.0	64.0	66.0					22																	39141735		2203	4300	6503	SO:0001583	missense	25777	0	0					g.chr22:39141735C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.767G>A	chr22.hg19:g.39141735C>T	ENSP00000385740:p.Arg256Lys	0					SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K	p.R256K	NM_001199580.1	NP_001186509.1	1	2	3	2.015224	Q9UH99	SUN2_HUMAN		9	1125	-			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	0	1	hg19	c.767G>A	CCDS13978.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.702|0.702	-0.790583|-0.790583	0.02884|0.02884	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.30448	.|2.76;2.76;2.78;2.76;2.76;1.53	5.35|5.35	-7.91|-7.91	0.01165|0.01165	5.35|5.35	-7.91|-7.91	0.01165|0.01165	.|.	.|1.479880	.|0.04075	.|N	.|0.308683	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.01874|0.01874	-0.695|-0.695	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	.|0.0;0.0;0.0;0.001;0.0	T|T	0.29822|0.29822	-0.9999|-0.9999	5|10	.|0.13470	.|T	.|0.59	-2.6364|-2.6364	10.0122|10.0122	0.41992|0.41992	0.0:0.2353:0.1106:0.6541|0.0:0.2353:0.1106:0.6541	.|.	.|245;291;256;277;256	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	S|K	113|256;256;277;256;245;210	.|ENSP00000385740:R256K;ENSP00000216064:R256K;ENSP00000385616:R277K;ENSP00000383992:R256K;ENSP00000395601:R245K;ENSP00000406941:R210K	.|ENSP00000216064:R256K	G|R	-|-	1|2	0|0	0|0	SUN2|SUN2	37471681|37471681	37471681|37471681	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.548000|-0.548000	0.06048|0.06048	-1.264000|-1.264000	0.02452|0.02452	-0.878000|-0.878000	0.02970|0.02970	GGC|AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	0	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-7.958016	1	0.170000	XM_039332			6	5		203	199	0		1	1		0	0	36	0		9.629460e-01	9.982589e-01	0	27	0	426	0	6	203
DNAL4	10126	broad.mit.edu	37	22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	46					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557																																						ENST00000216068.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(136-138)ttC>ttA		dynein, axonemal, light chain 4							145.0	114.0	125.0					22																	39176946		2203	4300	6503	SO:0001583	missense	10126	0	0					g.chr22:39176946G>T	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"""Axonemal dyneins"""	2955	protein-coding gene	gene with protein product		610565	"""dynein, axonemal, light polypeptide 4"", ""dynein, axonemal, light 4"""			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.138C>A	chr22.hg19:g.39176946G>T	ENSP00000216068:p.Phe46Leu	0					SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron	p.F46L	NM_005740.2	NP_005731.1	1	2	3	2.015224	O96015	DNAL4_HUMAN		3	382	-	Melanoma(58;0.04)		Q6FGB2|Q6FGD0	Missense_Mutation	SNP	ENST00000216068.4	1	1	hg19	c.138C>A	CCDS13979.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310387	0.60414	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	4.2	0.49525	5.21	4.2	0.49525	.	0.193608	0.56097	D	0.000037	T	0.65281	0.2676	M	0.81239	2.535	0.51012	D	0.999905	B	0.21225	0.053	B	0.35353	0.201	T	0.66654	-0.5869	9	0.48119	T	0.1	.	7.6392	0.28284	0.2353:0.0:0.7647:0.0	.	46	O96015	DNAL4_HUMAN	L	46	.	ENSP00000216068:F46L	F	-	3	2	2	DNAL4	37506892	37506892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.204000	0.42761	2.428000	0.82296	0.561000	0.74099	TTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_005740			37	37		168	165	1		1	1		0	0	51	0		1	1	0	31	0	97	0	37	168
APOBEC3B	9582	broad.mit.edu	37	22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	rs374260464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGGGGAAGTGCGTGCGTTCCT	0.582																																						ENST00000333467.3	1.000000	0.160000	3.500000e-01	2.000000e-01	0.260000	0.335980	0.260000	0.250000																										0				13						c.(880-882)Cgt>Tgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							102.0	103.0	103.0					22																	39387493		2198	4283	6481	SO:0001583	missense	9582	1	119976	34				g.chr22:39387493C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.880C>T	chr22.hg19:g.39387493C>T	ENSP00000327459:p.Arg294Cys	0					APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	p.R294C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	1	2	3	2.015224	Q9UH17	ABC3B_HUMAN		6	925	+	Melanoma(58;0.04)		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	0	1	hg19	c.880C>T	CCDS13982.1	0	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	0	APOBEC3B	37717439	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	0	0	1		2	2	2	0		0	0	190		190	251	1	2.060000	-2.820130	1	0.170000	NM_004900			23	21		1047	941	0		1	0		0	0	190	0		9.999977e-01	2.477845e-02	0	0	0	11	0	23	1047
APOBEC3D	140564	broad.mit.edu	37	22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	52					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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493																																						ENST00000216099.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(154-156)aCa>aTa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							53.0	60.0	58.0					22																	39418964		2203	4300	6503	SO:0001583	missense	140564	0	0					g.chr22:39418964C>T	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.155C>T	chr22.hg19:g.39418964C>T	ENSP00000216099:p.Thr52Ile	0					APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I	p.T52I	NM_152426.3	NP_689639.2	1	2	3	2.015224	Q96AK3	ABC3D_HUMAN		2	562	+	Melanoma(58;0.04)		Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	1	1	hg19	c.155C>T	CCDS46709.1	1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849772	0.32699	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64260	-0.09;-0.09;0.03	2.36	-4.72	0.03269	2.36	-4.72	0.03269	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.51058	0.1652	L	0.39898	1.24	0.09310	N	1	P;D;P	0.54397	0.684;0.966;0.501	B;P;B	0.48368	0.326;0.575;0.109	T	0.48703	-0.9012	9	0.52906	T	0.07	.	4.8818	0.13683	0.4815:0.2903:0.2282:0.0	.	52;52;52	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	I	52	ENSP00000370980:T52I;ENSP00000216099:T52I;ENSP00000388017:T52I	ENSP00000216099:T52I	T	+	2	0	0	APOBEC3D	37748910	37748910	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.192000	0.00564	-1.504000	0.01810	0.485000	0.47835	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	1	0	1		2	2	2	0		0	0	85		85	91	1	2.060000	-20.000000	1	0.170000	NM_152426			76	74		353	341	1		1	1		0	0	85	0		1	6.560791e-01	0	2	0	10	0	76	353
APOBEC3G	60489	broad.mit.edu	37	22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A	rs542681958		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	313	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)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17744	0.001		0.0	False		,,,				2504	0.0					ENST00000407997.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(937-939)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							114.0	119.0	117.0					22																	39482486		2203	4300	6503	SO:0001583	missense	60489	12	121412	44				g.chr22:39482486G>A	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.938G>A	chr22.hg19:g.39482486G>A	ENSP00000385057:p.Arg313His	0					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	p.R313H	NM_021822.3	NP_068594.1	1	2	3	2.015224	Q9HC16	ABC3G_HUMAN		6	1295	+	Melanoma(58;0.04)		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	1	1	hg19	c.938G>A	CCDS13984.1	1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.138435	0.37728	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66815	-0.23;-0.23	1.56	1.56	0.23342	1.56	1.56	0.23342	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.68577	0.3016	M	0.88906	2.99	0.25718	N	0.985403	B	0.28584	0.216	B	0.25884	0.064	T	0.65685	-0.6108	9	0.72032	D	0.01	.	9.0538	0.36392	0.0:0.0:1.0:0.0	.	313	Q9HC16	ABC3G_HUMAN	H	313	ENSP00000413376:R313H;ENSP00000385057:R313H	ENSP00000385057:R313H	R	+	2	0	0	APOBEC3G	37812432	37812432	1.000000	0.71417	0.743000	0.31040	0.066000	0.16364	5.716000	0.68437	1.168000	0.42723	0.484000	0.47621	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	0	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-20.000000	1	0.170000	NM_021822			148	147		739	718	1		1	1		0	0	170	0		1	9.999973e-01	0	6	0	84	0	148	739
PDGFB	5155	broad.mit.edu	37	22	39629477	39629477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	71					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|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 fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					TCTCCAGCTCGCCTCCAGAGT	0.597			T	COL1A1	DFSP																																	ENST00000331163.6	1.000000	0.310000	7.800000e-01	4.200000e-01	0.560000	0.600182	0.560000	0.530000				Dom	yes			Dom	yes		22	22q12.3-q13.1	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)				M	M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				7						c.(211-213)ggC>ggT		platelet-derived growth factor beta polypeptide							58.0	59.0	59.0					22																	39629477		2203	4300	6503	SO:0001819	synonymous_variant	5155	6	121412	38				g.chr22:39629477G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.213C>T	chr22.hg19:g.39629477G>A		0					PDGFB_ENST00000381551.4_Silent_p.G56G	p.G71G	NM_002608.2	NP_002599.1	1	2	3	2.015224	P01127	PDGFB_HUMAN		3	1000	-	Melanoma(58;0.04)		G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	1	1	hg19	c.213C>T	CCDS13987.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.342863	1	0.170000	NM_002608			14	14		299	292	0		1	0		0	0	61	0		9.997318e-01	7.805095e-01	0	0	0	63	0	14	299
SYNGR1	9145	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632																																						ENST00000328933.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(325-327)atC>atT		synaptogyrin 1							84.0	59.0	67.0					22																	39770548		2203	4300	6503	SO:0001819	synonymous_variant	9145	0	0					g.chr22:39770548C>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.327C>T	chr22.hg19:g.39770548C>T		0					SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I	p.I109I	NM_004711.4	NP_004702.2	1	2	3	2.015224	O43759	SNG1_HUMAN		2	342	+	Melanoma(58;0.04)		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	1	1	hg19	c.327C>T	CCDS13989.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_004711			56	56		270	267	1		1	1		0	0	72	0		1	9.998816e-01	0	7	0	60	0	56	270
SYNGR1	9145	broad.mit.edu	37	22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	168	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCTGTGCTGGCCTTCCAGCG	0.652																																						ENST00000328933.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(502-504)Gcc>Tcc		synaptogyrin 1							37.0	39.0	38.0					22																	39777719		2203	4300	6503	SO:0001583	missense	9145	0	0					g.chr22:39777719G>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.502G>T	chr22.hg19:g.39777719G>T	ENSP00000332287:p.Ala168Ser	0						p.A168S	NM_004711.4	NP_004702.2	1	2	3	2.015224	O43759	SNG1_HUMAN		4	517	+	Melanoma(58;0.04)		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	1	1	hg19	c.502G>T	CCDS13989.1	1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733179	0.69189	.	.	ENSG00000100321	ENST00000328933	T	0.72282	-0.64	4.52	4.52	0.55395	4.52	4.52	0.55395	Marvel (1);	0.159554	0.53938	D	0.000052	T	0.68137	0.2968	M	0.66378	2.025	0.80722	D	1	B	0.34200	0.441	B	0.28553	0.091	T	0.71820	-0.4477	10	0.46703	T	0.11	.	17.4528	0.87597	0.0:0.0:1.0:0.0	.	168	O43759	SNG1_HUMAN	S	168	ENSP00000332287:A168S	ENSP00000332287:A168S	A	+	1	0	0	SYNGR1	38107665	38107665	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.249000	0.95470	2.341000	0.79615	0.462000	0.41574	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	1	0	1		2	2	2	0		0	0	70		70	66	1	2.060000	-20.000000	1	0.170000	NM_004711			77	76		322	316	1		1	1		0	0	70	0		1	6.045304e-01	0	5	0	5	0	77	322
TAB1	10454	broad.mit.edu	37	22	39822803	39822803	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000216160.6	+	9	1079	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000331454.3_Silent_p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	339	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|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 NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCATCCACAGCGACACCTTCG	0.627																																						ENST00000216160.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1015-1017)agC>agT		TGF-beta activated kinase 1/MAP3K7 binding protein 1							99.0	88.0	92.0					22																	39822803		2203	4300	6503	SO:0001819	synonymous_variant	10454	6	121408	40				g.chr22:39822803C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1017C>T	chr22.hg19:g.39822803C>T		0					TAB1_ENST00000331454.3_Silent_p.S339S	p.S339S	NM_006116.2	NP_006107.1	1	2	3	2.015224	Q15750	TAB1_HUMAN		9	1079	+			Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	1	1	hg19	c.1017C>T	CCDS13993.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	0	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_153497			129	127		525	518	0		1	1		0	0	115	0		1	1	0	23	0	81	0	129	525
MGAT3	4248	broad.mit.edu	37	22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A	rs369875382		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		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	91					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)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAAGGCGGCCGAGGAGCTCCA	0.697																																						ENST00000341184.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(271-273)Gag>Aag		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase		G	LYS/GLU,LYS/GLU	0,4384		0,0,2192	19.0	24.0	22.0		271,271	4.9	0.8	22		22	1,8559		0,1,4279	no	missense,missense	MGAT3	NM_001098270.1,NM_002409.4	56,56	0,1,6471	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	91/534,91/534	39883623	1,12943	2192	4280	6472	SO:0001583	missense	4248	0	0					g.chr22:39883623G>A	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.271G>A	chr22.hg19:g.39883623G>A	ENSP00000345270:p.Glu91Lys	0						p.E91K	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	1	2	3	2.015224	Q09327	MGAT3_HUMAN		2	486	+	Melanoma(58;0.04)		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	1	1	hg19	c.271G>A	CCDS13994.2	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089656	0.36855	0.0	1.17E-4	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.209294	0.40385	N	0.001102	T	0.48943	0.1528	L	0.27053	0.805	0.38999	D	0.959309	D	0.61080	0.989	P	0.47573	0.55	T	0.56914	-0.7900	9	0.54805	T	0.06	.	18.1411	0.89639	0.0:0.0:1.0:0.0	.	91	Q09327	MGAT3_HUMAN	K	91	.	ENSP00000345270:E91K	E	+	1	0	0	MGAT3	38213569	38213569	1.000000	0.71417	0.790000	0.31976	0.406000	0.30931	5.095000	0.64529	2.281000	0.76405	0.467000	0.42956	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	0	1		25	4	2	1		1	1	54		54	51	1	2.060000	-3.389011	1	0.170000	NM_002409			84	85		345	337	0		1	1		1	0	54	0		1	7.984668e-01	0	15	0	12	0	84	345
CACNA1I	8911	broad.mit.edu	37	22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000402142.3	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	63					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)			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)	CTTCTGCCTGCGACAGACCAC	0.652																																						ENST00000402142.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(187-189)Cga>Tga		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)						80.0	90.0	87.0					22																	39966944		2081	4198	6279	SO:0001587	stop_gained	8911	0	0					g.chr22:39966944C>T	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.187C>T	chr22.hg19:g.39966944C>T	ENSP00000385019:p.Arg63*	0					CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*	p.R63*	NM_021096.3	NP_066919.2	1	2	3	2.015224	Q9P0X4	CAC1I_HUMAN		1	187	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	ENST00000402142.3	0	1	hg19	c.187C>T	CCDS46710.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.821164	0.97865	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.27	4.18	0.49190	5.27	4.18	0.49190	.	3.044690	0.01288	N	0.009929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6336	0.51189	0.3447:0.6553:0.0:0.0	.	.	.	.	X	63	.	ENSP00000337829:R63X	R	+	1	2	2	CACNA1I	38296890	38296890	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.915000	0.63355	2.633000	0.89246	0.561000	0.74099	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_001003406			91	86		506	500	1		1			0	0	108	0		1	0	0	0	0	0	0	91	506
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	A	rs192152982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000402142.3	+	6	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					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)			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)	GCTCCCTGTCGGGCGACAATG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		21265	0.0		0.002	False		,,,				2504	0.0					ENST00000402142.3	1.000000	0.680000	1	8.800000e-01	0.990000	0.958639	0.990000	1.000000																										0				60						c.(814-816)tcG>tcA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	G	,	1,4181		0,1,2090	49.0	54.0	52.0		816,816	-3.2	1.0	22		52	18,8410		0,18,4196	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,19,6286	AA,AG,GG		0.2136,0.0239,0.1507	,	272/2189,272/2224	40036947	19,12591	2091	4214	6305	SO:0001819	synonymous_variant	8911	103	121016	51				g.chr22:40036947G>A	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.816G>A	chr22.hg19:g.40036947G>A		0					CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S	p.S272S	NM_021096.3	NP_066919.2	1	2	3	2.015224	Q9P0X4	CAC1I_HUMAN		6	816	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	1	1	hg19	c.816G>A	CCDS46710.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.075688	1	0.170000	NM_001003406			16	16		155	152	0		1	0		0	0	36	0		9.999392e-01	0	0	0	0	1	0	16	155
CACNA1I	8911	broad.mit.edu	37	22	40060787	40060787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	ENST00000402142.3	+	21	3710	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1243H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1237					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)			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)	GCGTACCTACGCAGCAGCTGG	0.682																																						ENST00000402142.3	1.000000	0.850000	1	9.900000e-01	0.990000	0.990993	0.990000	1.000000																										0				60						c.(3709-3711)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)						54.0	59.0	57.0					22																	40060787		2114	4223	6337	SO:0001583	missense	8911	0	0					g.chr22:40060787G>A	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.3710G>A	chr22.hg19:g.40060787G>A	ENSP00000385019:p.Arg1237His	0					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1243H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H	p.R1237H	NM_021096.3	NP_066919.2	1	2	3	2.015224	Q9P0X4	CAC1I_HUMAN		21	3710	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	0	1	hg19	c.3710G>A	CCDS46710.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.381626	0.95967	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.3	4.3	0.51218	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.89968	3.075	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	0.997;0.998;0.998;0.998	D	0.99066	1.0832	10	0.72032	D	0.01	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1202;1237;1202;1237	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1237;1202;1237;1202;1243;1202	ENSP00000385019:R1237H;ENSP00000384093:R1202H;ENSP00000383887:R1237H;ENSP00000385680:R1202H;ENSP00000337829:R1243H;ENSP00000383028:R1202H	ENSP00000337829:R1243H	R	+	2	0	0	CACNA1I	38390733	38390733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.541000	0.73865	1.950000	0.56595	0.462000	0.41574	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_001003406			17	17		130	129	0		1			0	0	30	0		9.999737e-01	0	0	0	0	0	0	17	130
CACNA1I	8911	broad.mit.edu	37	22	40060793	40060793	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	ENST00000402142.3	+	21	3716	c.3716G>T	c.(3715-3717)aGc>aTc	p.S1239I	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1245I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1239					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)			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)	CTACGCAGCAGCTGGAACGTG	0.677																																						ENST00000402142.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.991613	0.990000	1.000000																										0				60						c.(3715-3717)aGc>aTc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)						55.0	61.0	59.0					22																	40060793		2114	4228	6342	SO:0001583	missense	8911	0	0					g.chr22:40060793G>T	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.3716G>T	chr22.hg19:g.40060793G>T	ENSP00000385019:p.Ser1239Ile	0					CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1245I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I	p.S1239I	NM_021096.3	NP_066919.2	1	2	3	2.015224	Q9P0X4	CAC1I_HUMAN		21	3716	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	0	1	hg19	c.3716G>T	CCDS46710.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540607	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.3	4.3	0.51218	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.49513	1.565	0.52501	D	0.999959	D;D;D;D	0.89917	0.991;1.0;0.998;0.999	P;D;D;D	0.85130	0.883;0.997;0.962;0.997	D	0.99894	1.1142	10	0.87932	D	0	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1204;1239;1204;1239	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1239;1204;1239;1204;1245;1204	ENSP00000385019:S1239I;ENSP00000384093:S1204I;ENSP00000383887:S1239I;ENSP00000385680:S1204I;ENSP00000337829:S1245I;ENSP00000383028:S1204I	ENSP00000337829:S1245I	S	+	2	0	0	CACNA1I	38390739	38390739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.348000	0.73009	1.950000	0.56595	0.462000	0.41574	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001003406			19	19		148	144	0		1			0	0	32	0		9.999918e-01	0	0	0	0	0	0	19	148
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A	rs201778964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2. {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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597																																						ENST00000344138.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(934-936)cGc>cAc		GRB2-related adaptor protein 2							81.0	70.0	74.0					22																	40367030		2203	4300	6503	SO:0001583	missense	9402	5	121412	37				g.chr22:40367030G>A	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.935G>A	chr22.hg19:g.40367030G>A	ENSP00000339186:p.Arg312His	0					GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H	p.R312H	NM_004810.2	NP_004801.1	1	2	3	2.015224	O75791	GRAP2_HUMAN		8	1198	+			B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	1	1	hg19	c.935G>A	CCDS13999.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975252	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.55052	0.54;1.31;0.54;0.54;0.54;0.54	5.27	1.78	0.24846	5.27	1.78	0.24846	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.51958	0.1705	L	0.39566	1.225	0.18873	N	0.999986	P;P;P;D;P	0.65815	0.884;0.956;0.718;0.995;0.914	B;P;B;P;P	0.58577	0.403;0.636;0.281;0.841;0.515	T	0.38478	-0.9659	10	0.72032	D	0.01	-6.3986	5.0818	0.14661	0.072:0.1274:0.538:0.2626	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	H	312;260;286;246;240;199;312	ENSP00000339186:R312H;ENSP00000446350:R260H;ENSP00000444734:R246H;ENSP00000442195:R240H;ENSP00000382040:R199H;ENSP00000385607:R312H	ENSP00000339186:R312H	R	+	2	0	0	GRAP2	38696976	38696976	0.755000	0.28372	0.932000	0.37286	0.984000	0.73092	3.216000	0.51176	0.569000	0.29329	0.557000	0.71058	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004810			66	66		304	301	1		1	0		0	0	89	0		1	7.034371e-01	0	0	0	13	0	66	304
FAM83F	113828	broad.mit.edu	37	22	40417900	40417900	+	Silent	SNP	C	C	T	rs553725529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	462										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.001					ENST00000333407.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1384-1386)acC>acT		family with sequence similarity 83, member F							45.0	54.0	51.0					22																	40417900		2130	4250	6380	SO:0001819	synonymous_variant	113828	4	121042	36				g.chr22:40417900C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1386C>T	chr22.hg19:g.40417900C>T		0					FAM83F_ENST00000473717.1_Silent_p.T294T	p.T462T	NM_138435.2	NP_612444.2	1	2	3	2.015224	Q8NEG4	FA83F_HUMAN		4	1480	+			Q96FD6	Silent	SNP	ENST00000333407.6	1	1	hg19	c.1386C>T	CCDS14000.2	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-2.643753	1	0.170000	NM_138435			55	55		322	322	1		1	1		0	0	73	0		1	9.265617e-01	0	11	0	17	0	55	322
TNRC6B	23112	broad.mit.edu	37	22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T	rs375322900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000454349.2	+	5	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	353	Interaction with argonaute proteins.				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)			breast(1)	1						ATGGAAAATGCGGGTGTTAAT	0.418																																						ENST00000454349.2	1.000000	0.280000	7.000000e-01	3.700000e-01	0.500000	0.548121	0.500000	0.470000																										0				1						c.(1057-1059)gCg>gTg		trinucleotide repeat containing 6B		C	,VAL/ALA,VAL/ALA	1,3833		0,1,1916	69.0	68.0	69.0		,1058,1058	5.1	1.0	22		69	2,8264		0,2,4131	no	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,64,64	0,3,6047	TT,TC,CC		0.0242,0.0261,0.0248	,probably-damaging,probably-damaging	,353/1834,353/1724	40661292	3,12097	1917	4133	6050	SO:0001583	missense	23112	6	120866	39				g.chr22:40661292C>T	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.1058C>T	chr22.hg19:g.40661292C>T	ENSP00000401946:p.Ala353Val	0					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000301923.9_Intron	p.A353V	NM_001162501.1	NP_001155973.1	1	2	3	2.015224	Q9UPQ9	TNR6B_HUMAN		5	1269	+			B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	1	1	hg19	c.1058C>T	CCDS54533.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076522|2.076522	0.36662|0.36662	2.61E-4|2.61E-4	2.42E-4|2.42E-4	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.56611|.	0.45;0.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.118257|.	0.56097|.	D|.	0.000022|.	T|T	0.56702|0.56702	0.2003|0.2003	L|L	0.29908|0.29908	0.895|0.895	0.37338|0.37338	D|D	0.910273|0.910273	D;P;P|.	0.56968|.	0.978;0.702;0.883|.	B;B;B|.	0.40534|.	0.332;0.073;0.152|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.62326|.	D|.	0.03|.	-3.7136|-3.7136	17.4699|17.4699	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353;353;353|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|W	353|96	ENSP00000401946:A353V;ENSP00000338371:A353V|.	ENSP00000338371:A353V|.	A|R	+|+	2|1	0|2	0|2	TNRC6B|TNRC6B	38991238|38991238	38991238|38991238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.997000|1.997000	0.40786|0.40786	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GCG|CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.012238	1	0.170000				14	14		336	330	0		1	0		0	0	80	0		9.997381e-01	3.189947e-01	0	0	0	27	0	14	336
ADSL	158	broad.mit.edu	37	22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	131					'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)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACTTGACCTGCTTTTGCCAAA	0.363																																					Colon(4;65 130 1097 1516)	ENST00000216194.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(391-393)Ctt>Ttt		adenylosuccinate lyase							118.0	109.0	112.0					22																	40749110		2203	4300	6503	SO:0001583	missense	158	0	0					g.chr22:40749110C>T	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.391C>T	chr22.hg19:g.40749110C>T	ENSP00000216194:p.Leu131Phe	0					ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	p.L131F	NM_000026.2	NP_000017.1	1	2	3	2.015224	P30566	PUR8_HUMAN		3	447	+			B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	1	1	hg19	c.391C>T	CCDS14001.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762268	0.89932	.	.	ENSG00000239900	ENST00000216194;ENST00000342312	D;D	0.99784	-6.74;-6.74	5.6	5.6	0.85130	5.6	5.6	0.85130	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76575	0.979;0.988;0.988	D	0.96915	0.9670	10	0.87932	D	0	.	17.4818	0.87674	0.0:1.0:0.0:0.0	.	131;131;131	P30566-2;Q71UA4;P30566	.;.;PUR8_HUMAN	F	131	ENSP00000216194:L131F;ENSP00000341429:L131F	ENSP00000216194:L131F	L	+	1	0	0	ADSL	39079056	39079056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.818000	0.97014	0.655000	0.94253	CTT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_000026			49	46		176	174	1		1	1		0	0	74	0		1	1	0	46	0	113	0	49	176
ADSL	158	broad.mit.edu	37	22	40754974	40754974	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40754974G>A	ENST00000216194.7	+	5	645	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	197					'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)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCGCTTCCGGGGAGTAAAGGG	0.512																																					Colon(4;65 130 1097 1516)	ENST00000216194.7	1.000000	0.120000	4.500000e-01	1.800000e-01	0.280000	0.356381	0.280000	0.250000																										0				19						c.(589-591)Gga>Aga		adenylosuccinate lyase							93.0	84.0	87.0					22																	40754974		2203	4300	6503	SO:0001583	missense	158	0	0					g.chr22:40754974G>A	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.589G>A	chr22.hg19:g.40754974G>A	ENSP00000216194:p.Gly197Arg	0					ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R|ADSL_ENST00000480775.1_3'UTR	p.G197R	NM_000026.2	NP_000017.1	1	2	3	2.015224	P30566	PUR8_HUMAN		5	645	+			B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	0	1	hg19	c.589G>A	CCDS14001.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.320746	0.95682	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99304	-3.66;-3.66;-5.72	6.05	6.05	0.98169	6.05	6.05	0.98169	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98178	4.165	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	0.97465	1.0037	10	0.87932	D	0	-22.601	20.6087	0.99469	0.0:0.0:1.0:0.0	.	211;197;197;197	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	R	197;211;17;197	ENSP00000216194:G197R;ENSP00000390107:G211R;ENSP00000341429:G197R	ENSP00000216194:G197R	G	+	1	0	0	ADSL	39084920	39084920	1.000000	0.71417	0.772000	0.31596	0.992000	0.81027	8.972000	0.93424	2.866000	0.98385	0.650000	0.86243	GGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	0	0	0		2	2	2	0		0	0	66		66	64	1	2.060000	-7.210910	1	0.170000	NM_000026			7	7		317	316	0		1	0		0	0	66	0		9.806886e-01	8.811502e-01	0	1	0	174	0	7	317
MKL1	57591	broad.mit.edu	37	22	40814828	40814828	+	Silent	SNP	C	C	T	rs373988834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000355630.3	-	12	2204	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_ENST00000396617.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T|MKL1_ENST00000407029.1_Silent_p.T538T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	538					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGCATGCGCGTCAGCGCCT	0.706			T	RBM15	acute megakaryocytic leukemia																																	ENST00000355630.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	57591	T	megakaryoblastic leukemia (translocation) 1				L	L	RBM15		acute megakaryocytic leukemia		0				30						c.(1612-1614)acG>acA		megakaryoblastic leukemia (translocation) 1		C		1,4399		0,1,2199	16.0	18.0	18.0		1614	-9.6	0.5	22		18	0,8586		0,0,4293	no	coding-synonymous	MKL1	NM_020831.3		0,1,6492	TT,TC,CC		0.0,0.0227,0.0077		538/932	40814828	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	57591	7	121036	39				g.chr22:40814828C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1614G>A	chr22.hg19:g.40814828C>T		0					MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000396617.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	p.T538T	NM_020831.3	NP_065882.1	1	2	3	2.015224	Q969V6	MKL1_HUMAN		12	2204	-			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	1	1	hg19	c.1614G>A	CCDS14003.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_020831			42	42		178	176	0		1	1		0	0	21	0		1	9.874945e-01	0	5	0	27	0	42	178
MKL1	57591	broad.mit.edu	37	22	40817021	40817021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000355630.3	-	10	1301	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K|MKL1_ENST00000407029.1_Silent_p.K237K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	237	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACTGGTGGTACTTGAGCTTCT	0.592			T	RBM15	acute megakaryocytic leukemia																																	ENST00000355630.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		22	22q13	22q13	57591	T	megakaryoblastic leukemia (translocation) 1				L	L	RBM15		acute megakaryocytic leukemia		0				30						c.(709-711)aaG>aaA		megakaryoblastic leukemia (translocation) 1							138.0	117.0	124.0					22																	40817021		2203	4300	6503	SO:0001819	synonymous_variant	57591	0	0					g.chr22:40817021C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.711G>A	chr22.hg19:g.40817021C>T		0					MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	p.K237K	NM_020831.3	NP_065882.1	1	2	3	2.015224	Q969V6	MKL1_HUMAN		10	1301	-			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	1	1	hg19	c.711G>A	CCDS14003.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_020831			71	69		316	307	1		1	1		0	0	84	0		1	1	0	25	0	128	0	71	316
SLC25A17	10478	broad.mit.edu	37	22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000435456.2	-	9	956	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000402844.3_Missense_Mutation_p.L193M|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	275	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)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468																																						ENST00000435456.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(823-825)Ctg>Atg		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							213.0	210.0	211.0					22																	41166939		2203	4300	6503	SO:0001583	missense	10478	0	0					g.chr22:41166939G>T	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.823C>A	chr22.hg19:g.41166939G>T	ENSP00000390722:p.Leu275Met	0					SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000402844.3_Missense_Mutation_p.L193M	p.L275M	NM_006358.2	NP_006349.1	1	2	3	2.015224	O43808	PM34_HUMAN		9	956	-			A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	1	1	hg19	c.823C>A	CCDS14005.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225570	0.79576	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.38	4.37	0.52481	5.38	4.37	0.52481	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.97	D;D;D	0.74023	0.982;0.926;0.953	D	0.87229	0.2259	10	0.44086	T	0.13	-8.0327	10.5191	0.44907	0.1481:0.0:0.8519:0.0	.	202;238;275	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	M	275;193;238;202	ENSP00000390722:L275M;ENSP00000385303:L193M;ENSP00000438355:L238M;ENSP00000446471:L202M	ENSP00000385303:L193M	L	-	1	2	2	SLC25A17	39496885	39496885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.771000	0.74996	1.421000	0.47157	0.655000	0.94253	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	1	0	1		2	2	2	0		0	0	288		288	287	1	2.060000	-20.000000	1	0.170000	NM_006358			183	181		918	894	1		1	1		0	0	288	0		1	1	0	41	0	79	0	183	918
ST13	6767	broad.mit.edu	37	22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	XPNPEP3_ENST00000541156.1_5'Flank|XPNPEP3_ENST00000414396.1_5'Flank|XPNPEP3_ENST00000357137.4_5'Flank	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	25					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642																																						ENST00000216218.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(73-75)Acc>Gcc		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							60.0	64.0	62.0					22																	41252472		2203	4300	6503	SO:0001583	missense	6767	0	0					g.chr22:41252472T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.73A>G	chr22.hg19:g.41252472T>C	ENSP00000216218:p.Thr25Ala	0					XPNPEP3_ENST00000357137.4_5'Flank|XPNPEP3_ENST00000541156.1_5'Flank|XPNPEP3_ENST00000414396.1_5'Flank	p.T25A	NM_003932.3	NP_003923.2	1	2	3	2.015224	P50502	F10A1_HUMAN		1	554	-			O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	1	1	hg19	c.73A>G	CCDS14006.1	1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529592	0.44969	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032	T	0.16597	2.33	5.52	4.49	0.54785	5.52	4.49	0.54785	.	0.387108	0.32578	N	0.005907	T	0.13970	0.0338	L	0.55743	1.74	0.29955	N	0.819911	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.0	T	0.28586	-1.0039	10	0.08381	T	0.77	.	7.7736	0.29023	0.0:0.162:0.0:0.838	.	25;25	B4E0U6;P50502	.;F10A1_HUMAN	A	25	ENSP00000216218:T25A	ENSP00000216218:T25A	T	-	1	0	0	ST13	39582418	39582418	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.256000	0.18351	1.115000	0.41800	0.460000	0.39030	ACC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_003932			92	91		500	491	1		1	1		0	0	97	0		1	1	0	190	0	639	0	92	500
DNAJB7	150353	broad.mit.edu	37	22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	175							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338																																						ENST00000307221.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(523-525)Gct>Act		DnaJ (Hsp40) homolog, subfamily B, member 7							88.0	90.0	89.0					22																	41257476		2203	4300	6503	SO:0001583	missense	150353	0	0					g.chr22:41257476C>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.523G>A	chr22.hg19:g.41257476C>T	ENSP00000307197:p.Ala175Thr	0					XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	p.A175T	NM_145174.1	NP_660157.1	1	2	3	2.015224	Q7Z6W7	DNJB7_HUMAN		1	654	-			Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	1	1	hg19	c.523G>A	CCDS14008.1	1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858335	0.17178	.	.	ENSG00000172404	ENST00000307221	T	0.45668	0.89	4.7	-4.54	0.03452	4.7	-4.54	0.03452	.	1.106060	0.07028	N	0.827902	T	0.27765	0.0683	L	0.50333	1.59	0.23776	N	0.996874	B	0.33777	0.425	B	0.30572	0.117	T	0.20907	-1.0261	10	0.21540	T	0.41	.	3.4648	0.07545	0.5679:0.1768:0.1058:0.1495	.	175	Q7Z6W7	DNJB7_HUMAN	T	175	ENSP00000307197:A175T	ENSP00000307197:A175T	A	-	1	0	0	DNAJB7	39587422	39587422	0.844000	0.29557	0.002000	0.10522	0.129000	0.20672	1.122000	0.31295	-0.659000	0.05359	-0.282000	0.10007	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_145174			113	112		483	474	1		1			0	0	92	0		1	0	0	0	0	0	0	113	483
XPNPEP3	63929	broad.mit.edu	37	22	41282489	41282489	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000414396.1_Silent_p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	254					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAATTGAACGAATGCAGATTG	0.522																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(760-762)cgA>cgC		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							77.0	80.0	79.0					22																	41282489		2203	4300	6503	SO:0001819	synonymous_variant	63929	0	0					g.chr22:41282489A>C		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.762A>C	chr22.hg19:g.41282489A>C		0					XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R	p.R254R	NM_022098.3	NP_071381.1	1	2	3	2.015224	Q9NQH7	XPP3_HUMAN		4	846	+			B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	ENST00000357137.4	1	1	hg19	c.762A>C	CCDS14007.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_022098			76	75		337	328	1		1	1		0	0	93	0		1	9.391284e-01	0	13	0	10	0	76	337
XPNPEP3	63929	broad.mit.edu	37	22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	257					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGAATGCAGATTGCTGGGAA	0.527																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(769-771)Att>Gtt		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							74.0	78.0	76.0					22																	41282496		2203	4300	6503	SO:0001583	missense	63929	0	0					g.chr22:41282496A>G		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.769A>G	chr22.hg19:g.41282496A>G	ENSP00000349658:p.Ile257Val	0					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V	p.I257V	NM_022098.3	NP_071381.1	1	2	3	2.015224	Q9NQH7	XPP3_HUMAN		4	853	+			B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	1	1	hg19	c.769A>G	CCDS14007.1	1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002692	0.35320	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.76186	-1.0;-1.0	5.74	0.825	0.18824	5.74	0.825	0.18824	Peptidase M24, structural domain (3);	0.518896	0.22027	N	0.065658	T	0.52613	0.1745	N	0.16233	0.39	0.26831	N	0.968589	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.37478	-0.9704	10	0.36615	T	0.2	.	6.5065	0.22198	0.6254:0.1244:0.2502:0.0	.	257;257	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	257;257;257;234	ENSP00000349658:I257V;ENSP00000441942:I234V	ENSP00000349658:I257V	I	+	1	0	0	XPNPEP3	39612442	39612442	0.889000	0.30405	0.998000	0.56505	0.997000	0.91878	1.347000	0.33975	0.103000	0.17682	0.455000	0.32223	ATT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_022098			82	80		299	291	1		1	1		0	0	89	0		1	9.753258e-01	0	4	0	20	0	82	299
EP300	2033	broad.mit.edu	37	22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	75	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			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						CAAGATGCAGCTTCTAAACAT	0.458			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		22	22q13	22q13	2033	T,  N, F, Mis, O	300 kd E1A-Binding protein gene				"""L, E"""	L, E	MLL, RUNXBP2		colorectal, breast, pancreatic, AML, ALL, DLBCL		0				171						c.(223-225)gCt>gTt		E1A binding protein p300							116.0	108.0	111.0					22																	41513320		2203	4300	6503	SO:0001583	missense	2033	0	0		Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	g.chr22:41513320C>T	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.224C>T	chr22.hg19:g.41513320C>T	ENSP00000263253:p.Ala75Val	0						p.A75V	NM_001429.3	NP_001420.2	1	2	3	2.015224	Q09472	EP300_HUMAN		2	1443	+			B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	1	1	hg19	c.224C>T	CCDS14010.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957203	0.92726	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.48286	D	0.000193	D	0.89462	0.6722	L	0.55213	1.73	0.58432	D	0.999998	P	0.51147	0.942	P	0.57244	0.816	D	0.86223	0.1632	10	0.30078	T	0.28	-7.1964	20.4581	0.99154	0.0:1.0:0.0:0.0	.	75	Q09472	EP300_HUMAN	V	75	ENSP00000263253:A75V	ENSP00000263253:A75V	A	+	2	0	0	EP300	39843266	39843266	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	2.835000	0.97688	0.650000	0.86243	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_001429			109	108		342	339	1		1	1		0	0	78	0		1	9.999758e-01	0	10	0	41	0	109	342
EP300	2033	broad.mit.edu	37	22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1629	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.A1629V(2)		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						GGTCGGGATGCGTTTCTCACG	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		22	22q13	22q13	2033	T,  N, F, Mis, O	300 kd E1A-Binding protein gene				"""L, E"""	L, E	MLL, RUNXBP2		colorectal, breast, pancreatic, AML, ALL, DLBCL		2	Substitution - Missense(2)	p.A1629V(2)	large_intestine(1)|endometrium(1)	171						c.(4885-4887)gCg>gTg		E1A binding protein p300							119.0	100.0	106.0					22																	41572357		2203	4300	6503	SO:0001583	missense	2033	0	0		Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	g.chr22:41572357C>T	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.4886C>T	chr22.hg19:g.41572357C>T	ENSP00000263253:p.Ala1629Val	0					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.A1629V	NM_001429.3	NP_001420.2	1	2	3	2.015224	Q09472	EP300_HUMAN		30	6105	+			B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	1	1	hg19	c.4886C>T	CCDS14010.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602581	0.66445	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	D	0.94801	0.8321	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95684	0.8734	10	0.87932	D	0	-8.2919	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1629	Q09472	EP300_HUMAN	V	1629	ENSP00000263253:A1629V	ENSP00000263253:A1629V	A	+	2	0	0	EP300	39902303	39902303	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_001429			112	110		447	436	1		1	1		0	0	110	0		1	1	0	70	0	113	0	112	447
EP300	2033	broad.mit.edu	37	22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2263					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)			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						CTATCAGCAGCGACTCCTTCA	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7	1.000000	0.500000	9.800000e-01	6.200000e-01	0.760000	0.782015	0.760000	1.000000				Rec	yes			Rec	yes		22	22q13	22q13	2033	T,  N, F, Mis, O	300 kd E1A-Binding protein gene				"""L, E"""	L, E	MLL, RUNXBP2		colorectal, breast, pancreatic, AML, ALL, DLBCL		0				171						c.(6787-6789)Cga>Tga		E1A binding protein p300							102.0	105.0	104.0					22																	41574502		2203	4300	6503	SO:0001587	stop_gained	2033	0	0		Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	g.chr22:41574502C>T	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.6787C>T	chr22.hg19:g.41574502C>T	ENSP00000263253:p.Arg2263*	0					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.R2263*	NM_001429.3	NP_001420.2	1	2	3	2.015224	Q09472	EP300_HUMAN		31	8006	+			B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	0	1	hg19	c.6787C>T	CCDS14010.1	0	.	.	.	.	.	.	.	.	.	.	C	52	19.910876	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	2.03	0.26663	5.5	2.03	0.26663	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.9992	10.9807	0.47492	0.3487:0.5422:0.1091:0.0	.	.	.	.	X	2263	.	ENSP00000263253:R2263X	R	+	1	2	2	EP300	39904448	39904448	0.685000	0.27652	0.997000	0.53966	0.955000	0.61496	0.242000	0.18087	0.671000	0.31185	-0.941000	0.02677	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-7.059047	1	0.170000	NM_001429			26	26		388	379	0		1	1		0	0	95	0		9.999999e-01	9.997594e-01	0	28	0	165	0	26	388
L3MBTL2	83746	broad.mit.edu	37	22	41620065	41620065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41620065G>A	ENST00000216237.5	+	9	1142	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCATGCGGCTGGAAGTGG	0.597																																						ENST00000216237.5	1.000000	0.100000	4.100000e-01	1.700000e-01	0.250000	0.332819	0.250000	0.230000																										0				24						c.(982-984)cgG>cgA		l(3)mbt-like 2 (Drosophila)							118.0	79.0	92.0					22																	41620065		2203	4300	6503	SO:0001819	synonymous_variant	83746	0	0					g.chr22:41620065G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.984G>A	chr22.hg19:g.41620065G>A		0						p.R328R	NM_031488.4	NP_113676.2	1	2	3	2.015224	Q969R5	LMBL2_HUMAN		9	1142	+			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	0	1	hg19	c.984G>A	CCDS14011.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	0	0	0		16	6	2	1		1	1	77		77	76	1	2.060000	-6.902569	1	0.170000	NM_031488			7	7		350	343	0		0	0		1	0	77	0		3.905602e-02	1.783149e-02	0	4	0	76	0	7	350
L3MBTL2	83746	broad.mit.edu	37	22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	442					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587																																						ENST00000216237.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1324-1326)Ctg>Atg		l(3)mbt-like 2 (Drosophila)							161.0	152.0	155.0					22																	41621043		2203	4300	6503	SO:0001583	missense	83746	0	0					g.chr22:41621043C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1324C>A	chr22.hg19:g.41621043C>A	ENSP00000216237:p.Leu442Met	0						p.L442M	NM_031488.4	NP_113676.2	1	2	3	2.015224	Q969R5	LMBL2_HUMAN		11	1482	+			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	1	1	hg19	c.1324C>A	CCDS14011.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222340	0.79464	.	.	ENSG00000100395	ENST00000216237	T	0.32023	1.47	5.52	1.09	0.20402	5.52	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.89095	3.005	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.55823	-0.8080	10	0.34782	T	0.22	.	10.1344	0.42697	0.0:0.7279:0.0:0.2721	.	442;442	Q969R5-3;Q969R5	.;LMBL2_HUMAN	M	442	ENSP00000216237:L442M	ENSP00000216237:L442M	L	+	1	2	2	L3MBTL2	39950989	39950989	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.353000	0.34045	0.312000	0.23038	0.561000	0.74099	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_031488			81	80		376	374	1		1	1		0	0	103	0		1	9.999999e-01	0	28	0	84	0	81	376
RANGAP1	5905	broad.mit.edu	37	22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	518					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627																																						ENST00000455915.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1552-1554)Gtg>Atg		Ran GTPase activating protein 1							157.0	119.0	132.0					22																	41645753		2203	4300	6503	SO:0001583	missense	5905	2	121412	33				g.chr22:41645753C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1552G>A	chr22.hg19:g.41645753C>T	ENSP00000401470:p.Val518Met	0					RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M	p.V518M			1	2	3	2.015224	P46060	RAGP1_HUMAN		13	3021	-			Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	1	1	hg19	c.1552G>A	CCDS14012.1	1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673521	0.47781	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.56611	0.45;0.45;0.45;0.85	5.8	-0.104	0.13605	5.8	-0.104	0.13605	Ran-GTPase activating protein 1, C-terminal (3);	0.458253	0.25241	N	0.032087	T	0.63189	0.2490	M	0.62723	1.935	0.21147	N	0.999778	D;D	0.76494	0.999;0.995	P;D	0.63488	0.839;0.915	T	0.58912	-0.7552	10	0.87932	D	0	-8.7803	11.557	0.50755	0.0:0.4446:0.0:0.5554	.	463;518	F8W7I9;P46060	.;RAGP1_HUMAN	M	518;518;518;518;463	ENSP00000385866:V518M;ENSP00000348577:V518M;ENSP00000401470:V518M;ENSP00000385354:V463M	ENSP00000348577:V518M	V	-	1	0	0	RANGAP1	39975699	39975699	0.978000	0.34361	0.729000	0.30791	0.083000	0.17756	0.350000	0.20079	-0.048000	0.13401	0.655000	0.94253	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.316951	1	0.170000	NM_002883			49	48		226	224	1		1	1		0	0	93	0		1	1	0	77	0	197	0	49	226
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	ENST00000455915.2	-	10	2639	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	19						c.(1168-1170)gaG>gaT		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001583	missense	5905	0	0					g.chr22:41650402C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>T	chr22.hg19:g.41650402C>A	ENSP00000401470:p.Glu390Asp	0					RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D	p.E390D			1	2	3	2.015224	P46060	RAGP1_HUMAN		10	2639	-			Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	1	0	hg19	c.1170G>T	CCDS14012.1	1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147037	0.21288	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.39	-6.97	0.01616	4.39	-6.97	0.01616	Armadillo-like helical (1);	0.774989	0.12248	N	0.485859	D	0.87321	0.6148	L	0.56769	1.78	0.43480	D	0.995701	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.002	T	0.63042	-0.6725	10	0.22706	T	0.39	-3.7269	7.3865	0.26884	0.0:0.4191:0.1138:0.4671	.	335;390	F8W7I9;P46060	.;RAGP1_HUMAN	D	390;390;390;390;335	ENSP00000385866:E390D;ENSP00000348577:E390D;ENSP00000401470:E390D;ENSP00000385354:E335D	ENSP00000348577:E390D	E	-	3	2	2	RANGAP1	39980348	39980348	0.000000	0.05858	0.489000	0.27452	0.024000	0.10985	-5.147000	0.00147	-1.197000	0.02673	-1.327000	0.01280	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-1.946389	0	0.170000	NM_002883			43	41		255	247	1		1	1		0	0	53	0		1	1	0	57	0	120	0	43	255
RANGAP1	5905	broad.mit.edu	37	22	41650462	41650462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	370	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcttcctcttctccttcct	0.567																																						ENST00000455915.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1108-1110)gaA>gaG		Ran GTPase activating protein 1							157.0	128.0	138.0					22																	41650462		2203	4300	6503	SO:0001819	synonymous_variant	5905	0	0					g.chr22:41650462T>C	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1110A>G	chr22.hg19:g.41650462T>C		0					RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E	p.E370E			1	2	3	2.015224	P46060	RAGP1_HUMAN		10	2579	-			Q96JJ2	Silent	SNP	ENST00000455915.2	1	0	hg19	c.1110A>G	CCDS14012.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-3.439335	1	0.170000	NM_002883			106	101		459	440	1		1	1		0	0	115	0		1	1	0	43	0	149	0	106	459
ZC3H7B	23264	broad.mit.edu	37	22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	103					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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						GAAGGCGCTGGAGGACAGCGA	0.627																																						ENST00000352645.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(307-309)Gag>Tag		zinc finger CCCH-type containing 7B							109.0	86.0	94.0					22																	41723231		2203	4300	6503	SO:0001587	stop_gained	23264	0	0					g.chr22:41723231G>T		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.307G>T	chr22.hg19:g.41723231G>T	ENSP00000345793:p.Glu103*	0					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	p.E103*	NM_017590.4	NP_060060.3	1	2	3	2.015224	Q9UGR2	Z3H7B_HUMAN		5	564	+			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	0	1	hg19	c.307G>T	CCDS14013.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.157690	0.97334	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.052170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-34.2907	18.8953	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000263243:E103X	E	+	1	0	0	ZC3H7B	40053177	40053177	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.577000	0.53885	2.457000	0.83068	0.491000	0.48974	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.353258	1	0.170000	NM_017590			93	91		439	433	0		1	1		0	0	98	0		1	9.999932e-01	0	13	0	69	0	93	439
ZC3H7B	23264	broad.mit.edu	37	22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	552					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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						AAGCGCGGCAGCCTCACCATC	0.647																																						ENST00000352645.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1606-1608)aGc>aTc		zinc finger CCCH-type containing 7B							100.0	80.0	87.0					22																	41742154		2203	4300	6503	SO:0001583	missense	23264	0	0					g.chr22:41742154G>T		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.1607G>T	chr22.hg19:g.41742154G>T	ENSP00000345793:p.Ser536Ile	0					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	p.S536I	NM_017590.4	NP_060060.3	1	2	3	2.015224	Q9UGR2	Z3H7B_HUMAN		14	1864	+			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	1	1	hg19	c.1607G>T	CCDS14013.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156390	0.57259	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.22539	1.95;1.95	5.36	4.28	0.50868	5.36	4.28	0.50868	.	0.141156	0.64402	D	0.000007	T	0.20088	0.0483	L	0.46157	1.445	0.35808	D	0.823633	B	0.32731	0.382	B	0.35813	0.211	T	0.18461	-1.0336	10	0.56958	D	0.05	-32.0039	9.3375	0.38060	0.0788:0.145:0.7762:0.0	.	536	Q9UGR2-2	.	I	536	ENSP00000345793:S536I;ENSP00000263243:S536I	ENSP00000263243:S536I	S	+	2	0	0	ZC3H7B	40072100	40072100	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.625000	0.46452	2.523000	0.85059	0.555000	0.69702	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_017590			91	91		459	451	1		1	1		0	0	97	0		1	9.999994e-01	0	3	0	101	0	91	459
ZC3H7B	23264	broad.mit.edu	37	22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	680					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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						AGAAGTACTGGCAGCAGATGG	0.532																																						ENST00000352645.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999812	0.990000	1.000000																										0				38						c.(1990-1992)tgG>tgA		zinc finger CCCH-type containing 7B							58.0	50.0	53.0					22																	41747608		2203	4300	6503	SO:0001587	stop_gained	23264	0	0					g.chr22:41747608G>A		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.1992G>A	chr22.hg19:g.41747608G>A	ENSP00000345793:p.Trp664*	0					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	p.W664*	NM_017590.4	NP_060060.3	1	2	3	2.015224	Q9UGR2	Z3H7B_HUMAN		17	2249	+			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	0	1	hg19	c.1992G>A	CCDS14013.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.652374	0.98901	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.112513	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8488	19.4218	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	664	.	ENSP00000263243:W664X	W	+	3	0	0	ZC3H7B	40077554	40077554	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.413000	0.97351	2.593000	0.87608	0.456000	0.33151	TGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_017590			22	22		118	117	1		1	1		0	0	22	0		9.999993e-01	9.999972e-01	0	3	0	120	0	22	118
ZC3H7B	23264	broad.mit.edu	37	22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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						TGCTGCCACCGCCACCACTGG	0.662																																						ENST00000352645.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2917-2919)Gcc>Acc		zinc finger CCCH-type containing 7B																																				SO:0001583	missense	23264	2	121272	39				g.chr22:41753416G>A		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.2917G>A	chr22.hg19:g.41753416G>A	ENSP00000345793:p.Ala973Thr	0					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	p.A973T	NM_017590.4	NP_060060.3	1	2	3	2.015224	Q9UGR2	Z3H7B_HUMAN		23	3174	+			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	1	1	hg19	c.2917G>A	CCDS14013.1	1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905514	0.17760	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	4.48	-8.95	0.00765	4.48	-8.95	0.00765	.	1.536640	0.03786	N	0.262041	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28202	-1.0051	9	0.15499	T	0.54	-0.9031	6.3307	0.21269	0.5147:0.0:0.2934:0.1919	.	973	Q9UGR2-2	.	T	973	ENSP00000345793:A973T;ENSP00000263243:A973T	ENSP00000263243:A973T	A	+	1	0	0	ZC3H7B	40083362	40083362	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.164000	0.09983	-2.096000	0.00852	-1.842000	0.00583	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000	NM_017590			145	141		614	606	0		1	1		0	0	90	0		1	1	0	3	0	105	0	145	614
TEF	7008	broad.mit.edu	37	22	41790200	41790200	+	Silent	SNP	C	C	T	rs201504261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	192	Pro-rich (proline/acidic region (PAR)).				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567																																						ENST00000266304.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(574-576)ctC>ctT		thyrotrophic embryonic factor							79.0	81.0	80.0					22																	41790200		2203	4300	6503	SO:0001819	synonymous_variant	7008	0	0					g.chr22:41790200C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.576C>T	chr22.hg19:g.41790200C>T		0					TEF_ENST00000406644.3_Silent_p.L162L	p.L192L	NM_003216.3	NP_003207.1	1	2	3	2.015224	Q10587	TEF_HUMAN		3	692	+			B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	1	1	hg19	c.576C>T	CCDS14014.1	1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325398	0.24080	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.78	0.71	0.18157	5.78	0.71	0.18157	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-30.8495	13.1516	0.59492	0.0988:0.4108:0.4905:0.0	.	.	.	.	F	158	.	.	S	+	2	0	0	TEF	40120146	40120146	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.219000	0.17641	0.374000	0.24650	0.655000	0.94253	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_003216			86	83		496	484	1		1	1		0	0	110	0		1	9.998859e-01	0	16	0	61	0	86	496
XRCC6	2547	broad.mit.edu	37	22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	219					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)			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						GTTCTACAGAGATATCATCAG	0.488								Non-homologous end-joining																														ENST00000359308.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.995686	0.990000	1.000000																										0				31						c.(655-657)Gat>Tat	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							39.0	33.0	35.0					22																	42033677		2203	4298	6501	SO:0001583	missense	2547	0	0					g.chr22:42033677G>T	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.655G>T	chr22.hg19:g.42033677G>T	ENSP00000352257:p.Asp219Tyr	0					XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y	p.D219Y			1	2	3	2.015224	P12956	XRCC6_HUMAN		5	1310	+			B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	0	1	hg19	c.655G>T	CCDS14021.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842693	0.91197	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.983;1.0;0.988	D	0.86954	0.2087	9	0.87932	D	0	-24.6149	19.9357	0.97140	0.0:0.0:1.0:0.0	.	169;219;178;219	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	219;178;86;219;219;219;169	.	ENSP00000352257:D219Y	D	+	1	0	0	XRCC6	40363623	40363623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.209000	0.95087	2.715000	0.92844	0.655000	0.94253	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.999940	1	0.170000	NM_001469			15	15		99	99	1		1	1		0	0	22	0		9.999104e-01	1	0	184	0	609	0	15	99
MEI1	150365	broad.mit.edu	37	22	42128307	42128307	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.L125L	NM_152513.3	NP_689726.3			meiosis inhibitor 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						ACATAGAGCTGCACAAGCAGG	0.557																																						ENST00000401548.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1153-1155)ctG>ctA		meiosis inhibitor 1							62.0	69.0	67.0					22																	42128307		2076	4208	6284	SO:0001819	synonymous_variant	150365	0	0					g.chr22:42128307G>A	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.1155G>A	chr22.hg19:g.42128307G>A		0					MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	p.L385L	NM_152513.3	NP_689726.3	1	2	3	2.015224				10	1195	+				Silent	SNP	ENST00000401548.3	1	1	hg19	c.1155G>A	CCDS46718.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_152513			27	27		66	66	1		1	0		0	0	18	0		1	0	0	0	0	1	0	27	66
MEI1	150365	broad.mit.edu	37	22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y	NM_152513.3	NP_689726.3			meiosis inhibitor 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						CATGTGCAGAGATGCTGGCCG	0.552																																						ENST00000401548.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(1243-1245)Gat>Tat		meiosis inhibitor 1							71.0	73.0	72.0					22																	42128519		2106	4238	6344	SO:0001583	missense	150365	0	0					g.chr22:42128519G>T	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.1243G>T	chr22.hg19:g.42128519G>T	ENSP00000384115:p.Asp415Tyr	0					MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	p.D415Y	NM_152513.3	NP_689726.3	1	2	3	2.015224				11	1283	+				Missense_Mutation	SNP	ENST00000401548.3	1	1	hg19	c.1243G>T	CCDS46718.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460093	0.63401	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.47528	1.83;0.84	5.74	4.71	0.59529	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.576504	0.18549	N	0.137954	T	0.56645	0.1999	L	0.56769	1.78	0.80722	D	1	P;D	0.60575	0.955;0.988	P;P	0.58873	0.66;0.847	T	0.58317	-0.7657	10	0.66056	D	0.02	-6.4029	7.1383	0.25541	0.1467:0.0:0.7135:0.1399	.	415;415	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Y	415;155	ENSP00000384115:D415Y;ENSP00000444225:D155Y	ENSP00000384115:D415Y	D	+	1	0	0	MEI1	40458465	40458465	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	2.702000	0.47102	1.410000	0.46936	0.563000	0.77884	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_152513			42	40		216	214	1		1			0	0	55	0		1	0	0	0	0	0	0	42	216
MEI1	150365	broad.mit.edu	37	22	42154490	42154490	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.Q59Q|MEI1_ENST00000540833.1_Silent_p.Q431Q	NM_152513.3	NP_689726.3			meiosis inhibitor 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						GCCAGAGACAGTACTGCATCC	0.577																																						ENST00000401548.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999600	0.990000	1.000000																										0				30						c.(2071-2073)caG>caA		meiosis inhibitor 1							55.0	57.0	56.0					22																	42154490		2049	4190	6239	SO:0001819	synonymous_variant	150365	2	120992	30				g.chr22:42154490G>A	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.2073G>A	chr22.hg19:g.42154490G>A		0					MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.Q59Q	p.Q691Q	NM_152513.3	NP_689726.3	1	2	3	2.015224				18	2113	+				Silent	SNP	ENST00000401548.3	1	1	hg19	c.2073G>A	CCDS46718.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_152513			21	21		119	115	1		1	0		0	0	29	0		9.999980e-01	8.368203e-01	0	0	0	21	0	21	119
CCDC134	79879	broad.mit.edu	37	22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A	rs374001821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	152						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.001					ENST00000255784.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(454-456)Gtc>Atc		coiled-coil domain containing 134		G	ILE/VAL	0,4406		0,0,2203	65.0	61.0	63.0		454	3.4	0.9	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC134	NM_024821.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	152/230	42209411	1,13005	2203	4300	6503	SO:0001583	missense	79879	13	121412	41				g.chr22:42209411G>A	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.454G>A	chr22.hg19:g.42209411G>A	ENSP00000255784:p.Val152Ile	0					CCDC134_ENST00000402061.3_Intron	p.V152I	NM_024821.2	NP_079097.1	1	2	3	2.015224	Q9H6E4	CC134_HUMAN		5	558	+				Missense_Mutation	SNP	ENST00000255784.5	1	1	hg19	c.454G>A	CCDS33654.1	1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385119	0.25031	0.0	1.16E-4	ENSG00000100147	ENST00000255784	.	.	.	5.51	3.42	0.39159	5.51	3.42	0.39159	.	0.184989	0.47852	N	0.000220	T	0.42494	0.1205	L	0.33485	1.01	0.44000	D	0.996703	B	0.21821	0.061	B	0.14578	0.011	T	0.33059	-0.9883	9	0.36615	T	0.2	-26.7955	9.1116	0.36732	0.2197:0.0:0.7803:0.0	.	152	Q9H6E4	CC134_HUMAN	I	152	.	ENSP00000255784:V152I	V	+	1	0	0	CCDC134	40539357	40539357	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	3.181000	0.50903	1.466000	0.48025	0.655000	0.94253	GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_024821			57	56		249	245	1		1	1		0	0	58	0		1	9.884789e-01	0	7	0	26	0	57	249
SREBF2	6721	broad.mit.edu	37	22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	262	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537																																						ENST00000361204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(784-786)gGc>gAc		sterol regulatory element binding transcription factor 2							169.0	157.0	161.0					22																	42266957		2203	4300	6503	SO:0001583	missense	6721	1	121412	33				g.chr22:42266957G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.785G>A	chr22.hg19:g.42266957G>A	ENSP00000354476:p.Gly262Asp	0						p.G262D	NM_004599.2	NP_004590.2	1	2	3	2.015224	Q12772	SRBP2_HUMAN		4	951	+			Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	1	1	hg19	c.785G>A	CCDS14023.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765744	0.90020	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55760	0.5	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57154	-0.7860	10	0.17369	T	0.5	-32.2682	19.365	0.94458	0.0:0.0:1.0:0.0	.	262	Q12772	SRBP2_HUMAN	D	262	ENSP00000354476:G262D	ENSP00000354476:G262D	G	+	2	0	0	SREBF2	40596903	40596903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.577000	0.86979	0.455000	0.32223	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	1	0	1		2	2	2	0		0	0	204		204	200	1	2.060000	-20.000000	1	0.170000	NM_004599			177	169		725	702	1		1	1		0	0	204	0		1	1	0	101	0	218	0	177	725
TNFRSF13C	115650	broad.mit.edu	37	22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	146					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637																																						ENST00000291232.3	1.000000	0.570000	1	7.100000e-01	0.870000	0.860696	0.870000	1.000000																										0				3						c.(436-438)Cct>Act		tumor necrosis factor receptor superfamily, member 13C							64.0	65.0	65.0					22																	42321490		2203	4300	6503	SO:0001583	missense	115650	0	0					g.chr22:42321490G>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.436C>A	chr22.hg19:g.42321490G>T	ENSP00000291232:p.Pro146Thr	0					MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	p.P146T	NM_052945.3	NP_443177.1	1	2	3	2.015224	Q96RJ3	TR13C_HUMAN		3	480	-				Missense_Mutation	SNP	ENST00000291232.3	1	1	hg19	c.436C>A	CCDS14024.1	1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766959	0.69878	.	.	ENSG00000159958	ENST00000291232	T	0.36520	1.25	4.93	3.77	0.43336	4.93	3.77	0.43336	.	0.259797	0.26944	N	0.021715	T	0.25606	0.0623	L	0.29908	0.895	0.34237	D	0.677158	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.40459	-0.9562	10	0.51188	T	0.08	0.6656	9.7503	0.40473	0.1094:0.0:0.8906:0.0	.	146;146	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	146	ENSP00000291232:P146T	ENSP00000291232:P146T	P	-	1	0	0	TNFRSF13C	40651436	40651436	0.922000	0.31269	0.822000	0.32727	0.704000	0.40688	1.135000	0.31454	1.214000	0.43395	0.655000	0.94253	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-7.993105	1	0.170000				26	26		338	334	0		1	0		0	0	84	0		9.999999e-01	1.653192e-01	0	0	0	10	0	26	338
WBP2NL	164684	broad.mit.edu	37	22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	121			D -> G (in dbSNP:rs133335). {ECO:0000269|PubMed:15489334}.		egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428																																						ENST00000328823.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(361-363)Gat>Tat		WBP2 N-terminal like							140.0	142.0	142.0					22																	42416055		2203	4300	6503	SO:0001583	missense	164684	0	0					g.chr22:42416055G>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.361G>T	chr22.hg19:g.42416055G>T	ENSP00000332983:p.Asp121Tyr	0					WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	p.D121Y	NM_152613.2	NP_689826.2	1	2	3	2.015224	Q6ICG8	WBP2L_HUMAN		4	392	+			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	1	1	hg19	c.361G>T	CCDS14029.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009860	0.54361	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.30448	1.53;1.53	5.23	5.23	0.72850	5.23	5.23	0.72850	WW-domain-binding protein (1);	0.000000	0.46442	D	0.000295	T	0.20170	0.0485	N	0.08118	0	0.27072	N	0.963301	B	0.16603	0.018	B	0.13407	0.009	T	0.24621	-1.0155	10	0.87932	D	0	-5.2897	17.7276	0.88369	0.0:0.0:1.0:0.0	.	121	Q6ICG8	WBP2L_HUMAN	Y	121;47	ENSP00000332983:D121Y;ENSP00000442447:D47Y	ENSP00000332983:D121Y	D	+	1	0	0	WBP2NL	40746001	40746001	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.021000	0.76425	2.719000	0.93026	0.655000	0.94253	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_152613			130	125		586	563	1		1	0		0	0	124	0		1	0	0	0	0	1	0	130	586
WBP2NL	164684	broad.mit.edu	37	22	42422788	42422788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42422788C>A	ENST00000328823.9	+	6	564	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	178	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TATGGAGCCCCACCTGCAGGA	0.468																																						ENST00000328823.9	1.000000	0.120000	3.000000e-01	1.600000e-01	0.210000	0.293403	0.210000	0.210000																										0				14						c.(532-534)cCa>cAa		WBP2 N-terminal like							78.0	91.0	87.0					22																	42422788		2203	4300	6503	SO:0001583	missense	164684	0	0					g.chr22:42422788C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.533C>A	chr22.hg19:g.42422788C>A	ENSP00000332983:p.Pro178Gln	0					WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	p.P178Q	NM_152613.2	NP_689826.2	1	2	3	2.015224	Q6ICG8	WBP2L_HUMAN		6	564	+			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	0	1	hg19	c.533C>A	CCDS14029.1	0	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304715	0.40795	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;D	0.84370	-1.84;-1.84	4.19	1.97	0.26223	4.19	1.97	0.26223	WW-domain-binding protein (1);	.	.	.	.	T	0.81688	0.4875	L	0.59912	1.85	0.26110	N	0.980693	B	0.31910	0.346	B	0.34652	0.187	T	0.70117	-0.4960	9	0.39692	T	0.17	.	9.2072	0.37296	0.4419:0.5581:0.0:0.0	.	178	Q6ICG8	WBP2L_HUMAN	Q	178;104	ENSP00000332983:P178Q;ENSP00000442447:P104Q	ENSP00000332983:P178Q	P	+	2	0	0	WBP2NL	40752734	40752734	0.000000	0.05858	0.015000	0.15790	0.004000	0.04260	-0.055000	0.11807	0.448000	0.26722	-0.291000	0.09656	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	0	0	1		2	2	2	0		0	0	190		190	188	1	2.060000	-2.333824	0	0.170000	NM_152613			16	16		905	877	0		1	0		0	0	190	0		9.999123e-01	1.061649e-03	0	0	0	3	0	16	905
NDUFA6	4700	broad.mit.edu	37	22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M|NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	140					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ATCCTTTGGCCTTGGCGCTTC	0.428																																						ENST00000498737.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(418-420)aGg>aTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa							212.0	187.0	195.0					22																	42482233		2203	4300	6503	SO:0001583	missense	4700	0	0					g.chr22:42482233C>A	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.419G>T	chr22.hg19:g.42482233C>A	ENSP00000418842:p.Arg140Met	0					NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M	p.R140M	NM_002490.3	NP_002481.2	1	2	3	2.015224	P56556	NDUA6_HUMAN		3	551	-			B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Missense_Mutation	SNP	ENST00000498737.2	1	1	hg19	c.419G>T	CCDS33656.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743576	0.89663	.	.	ENSG00000184983	ENST00000498737	T	0.66280	-0.2	6.17	4.09	0.47781	6.17	4.09	0.47781	.	0.085950	0.85682	D	0.000000	T	0.74884	0.3775	M	0.87038	2.855	0.80722	D	1	D	0.54047	0.964	P	0.52856	0.711	T	0.78650	-0.2121	10	0.56958	D	0.05	-24.6463	12.8598	0.57908	0.0:0.8674:0.0:0.1326	.	140	P56556	NDUA6_HUMAN	M	140	ENSP00000418842:R140M	ENSP00000418842:R140M	R	-	2	0	0	NDUFA6	40812179	40812179	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	3.215000	0.51169	0.938000	0.37419	0.655000	0.94253	AGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-3.544510	1	0.170000	NM_002490			123	122		506	497	1		1	1		0	0	102	0		1	1	0	234	0	504	0	123	506
CYP2D6	1565	broad.mit.edu	37	22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A	rs267608309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	90					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGTCACCAGCGCCTCGCGCAC	0.716																																						ENST00000360608.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				21						c.(268-270)gCg>gTg		cytochrome P450, family 2, subfamily D, polypeptide 6	Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)						13.0	14.0	13.0					22																	42525823		2161	4193	6354	SO:0001583	missense	1565	0	0					g.chr22:42525823G>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.269C>T	chr22.hg19:g.42525823G>A	ENSP00000353820:p.Ala90Val	0					NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA	p.A90V	NM_000106.5	NP_000097	1	2	3	2.015224	P10635	CP2D6_HUMAN		2	383	-			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	1	1	hg19	c.269C>T	CCDS46721.1	1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.808652	0.50421	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.61510	0.1;0.1;0.1	3.46	2.44	0.29823	3.46	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	L	0.43554	1.36	0.58432	D	0.999999	P;P	0.49447	0.734;0.924	P;B	0.47626	0.552;0.313	T	0.40117	-0.9580	10	0.19147	T	0.46	.	10.2971	0.43631	0.1036:0.0:0.8964:0.0	.	90;90	Q6NXU8;Q6NWU0	.;.	V	90;90;39;90;90	ENSP00000353820:A90V;ENSP00000374620:A90V;ENSP00000351927:A90V	ENSP00000351927:A90V	A	-	2	0	0	CYP2D6	40855767	40855767	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.625000	0.61262	1.022000	0.39626	0.484000	0.47621	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1	1	0	1		2	2	2	0		0	0	21		21	22	1	2.060000	-20.000000	1	0.170000				36	36		193	192	0		1	0		0	0	21	0		1	0	0	1	0	0	0	36	193
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	G	T	rs578222327	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517																																						ENST00000359486.3	1.000000	0.320000	5.800000e-01	3.800000e-01	0.460000	0.514800	0.460000	0.450000																										0				66						c.(5524-5526)atC>atA		transcription factor 20 (AR1)							143.0	145.0	145.0					22																	42605786		2203	4300	6503	SO:0001819	synonymous_variant	6942	0	0					g.chr22:42605786G>T	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.5526C>A	chr22.hg19:g.42605786G>T		0					TCF20_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	p.I1842I	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	5662	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	1	1	hg19	c.5526C>A	CCDS14033.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	0	0	1		2	2	2	0		0	0	231		231	226	1	2.060000	-3.902281	1	0.170000	NM_181492			34	34		858	847	0		1	1		0	0	231	0		1	9.081187e-01	0	8	0	97	0	34	858
TCF20	6942	broad.mit.edu	37	22	42607439	42607439	+	Silent	SNP	G	G	A	rs369173064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000335626.4_Silent_p.G1291G|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTATCAGCGCCTTCTTTTG	0.428																																						ENST00000359486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3871-3873)ggC>ggT		transcription factor 20 (AR1)		G	,	1,4405	2.1+/-5.4	0,1,2202	212.0	191.0	198.0		3873,3873	-4.6	0.0	22		198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1291/1961,1291/1939	42607439	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6942	2	121412	40				g.chr22:42607439G>A	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.3873C>T	chr22.hg19:g.42607439G>A		0					TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1291G	p.G1291G	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	4009	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	1	1	hg19	c.3873C>T	CCDS14033.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_181492			148	139		599	593	1		1	1		0	0	127	0		1	1	0	26	0	70	0	148	599
TCF20	6942	broad.mit.edu	37	22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTCCTTTGCTCCCTCCTCC	0.542																																						ENST00000359486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1987-1989)aGc>aAc		transcription factor 20 (AR1)							119.0	92.0	101.0					22																	42609324		2203	4300	6503	SO:0001583	missense	6942	0	0					g.chr22:42609324C>T	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.1988G>A	chr22.hg19:g.42609324C>T	ENSP00000352463:p.Ser663Asn	0					TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	p.S663N	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	2124	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	1	1	hg19	c.1988G>A	CCDS14033.1	1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715375	0.15306	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.65	0.00184	0.14048	5.65	0.00184	0.14048	.	.	.	.	.	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07888	-1.0749	9	0.36615	T	0.2	-0.3196	9.0709	0.36491	0.0:0.6288:0.0:0.3712	.	663;663	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	663	ENSP00000352463:S663N;ENSP00000335561:S663N	ENSP00000335561:S663N	S	-	2	0	0	TCF20	40939268	40939268	0.190000	0.23276	0.939000	0.37840	0.976000	0.68499	0.230000	0.17852	0.193000	0.20303	0.655000	0.94253	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_181492			81	80		376	363	1		1	1		0	0	80	0		1	9.999885e-01	0	27	0	51	0	81	376
TCF20	6942	broad.mit.edu	37	22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCCTCCATCTAATGACTCT	0.537																																						ENST00000359486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1558-1560)Gat>Tat		transcription factor 20 (AR1)							155.0	164.0	161.0					22																	42609754		2203	4300	6503	SO:0001583	missense	6942	0	0					g.chr22:42609754C>A	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.1558G>T	chr22.hg19:g.42609754C>A	ENSP00000352463:p.Asp520Tyr	0					TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	p.D520Y	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	1694	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	1	1	hg19	c.1558G>T	CCDS14033.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573944	0.45902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.50825	-0.8782	10	0.87932	D	0	-22.0814	20.8794	0.99867	0.0:1.0:0.0:0.0	.	520;520	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	520	ENSP00000352463:D520Y;ENSP00000335561:D520Y	ENSP00000335561:D520Y	D	-	1	0	0	TCF20	40939698	40939698	1.000000	0.71417	0.957000	0.39632	0.560000	0.35617	2.209000	0.42806	2.941000	0.99782	0.655000	0.94253	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1		2	2	2	0		0	0	278		278	276	1	2.060000	-20.000000	1	0.170000	NM_181492			261	255		1075	1058	1		1	1		0	0	278	0		1	9.997539e-01	0	10	0	41	0	261	1075
TCF20	6942	broad.mit.edu	37	22	42609955	42609955	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAACTACTCAACCCAGGATCT	0.488																																						ENST00000359486.3	1.000000	0.570000	9.900000e-01	6.800000e-01	0.800000	0.817904	0.800000	1.000000																										0				66						c.(1357-1359)Ttg>Ctg		transcription factor 20 (AR1)							99.0	100.0	99.0					22																	42609955		2203	4300	6503	SO:0001819	synonymous_variant	6942	0	0					g.chr22:42609955A>G	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.1357T>C	chr22.hg19:g.42609955A>G		0					TCF20_ENST00000335626.4_Silent_p.L453L	p.L453L	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	1493	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	1	1	hg19	c.1357T>C	CCDS14033.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-8.786040	1	0.170000	NM_181492			38	36		533	521	1		1	1		0	0	111	0		1	8.956751e-01	0	12	0	45	0	38	533
TCF20	6942	broad.mit.edu	37	22	42611246	42611246	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGATGAGCCGTGTACCTCCT	0.567																																						ENST00000359486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(64-66)caC>caT		transcription factor 20 (AR1)							74.0	65.0	68.0					22																	42611246		2203	4300	6503	SO:0001819	synonymous_variant	6942	0	0					g.chr22:42611246G>A	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.66C>T	chr22.hg19:g.42611246G>A		0					TCF20_ENST00000335626.4_Silent_p.H22H	p.H22H	NM_005650.1	NP_005641.1	1	2	3	2.015224	Q9UGU0	TCF20_HUMAN		1	202	-			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	1	1	hg19	c.66C>T	CCDS14033.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.346449	1	0.170000	NM_181492			55	53		277	268	1		1	1		0	0	77	0		1	9.485708e-01	0	6	0	21	0	55	277
SERHL2	253190	broad.mit.edu	37	22	42967184	42967184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000335879.5_Silent_p.L172L|SERHL2_ENST00000407614.4_Silent_p.L56L|RRP7B_ENST00000357802.2_RNA|RNU6-513P_ENST00000516104.1_RNA|SERHL2_ENST00000340239.4_Silent_p.S197S	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567																																						ENST00000327678.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(706-708)Ctg>Ttg		serine hydrolase-like 2							132.0	104.0	113.0					22																	42967184		2203	4300	6503	SO:0001819	synonymous_variant	253190	0	0					g.chr22:42967184C>T		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.706C>T	chr22.hg19:g.42967184C>T		0					SERHL2_ENST00000335879.5_Silent_p.L172L|RRP7B_ENST00000357802.2_RNA|RNU6-513P_ENST00000516104.1_RNA|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000340239.4_Silent_p.S197S	p.L236L	NM_014509.3	NP_055324.2	1	2	3	2.015224	Q9NQF3	SERHL_HUMAN		10	808	+			Q5JZ95|Q9UH21	Silent	SNP	ENST00000327678.5	1	1	hg19	c.706C>T	CCDS14037.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_014509			49	46		187	183	1		1	1		0	0	62	0		1	8.916513e-01	0	5	0	12	0	49	187
POLDIP3	84271	broad.mit.edu	37	22	42988051	42988051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Silent_p.L282L|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	311	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(931-933)Ctg>Ttg		polymerase (DNA-directed), delta interacting protein 3							177.0	154.0	162.0					22																	42988051		2203	4300	6503	SO:0001819	synonymous_variant	84271	0	0					g.chr22:42988051G>A		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.931C>T	chr22.hg19:g.42988051G>A		0					POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.L282L	p.L311L	NM_032311.3	NP_115687.2	1	2	3	2.015224	Q9BY77	PDIP3_HUMAN		7	1035	-			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	1	1	hg19	c.931C>T	CCDS14038.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	1	0	1		2	2	2	0		0	0	158		158	155	1	2.060000	-20.000000	1	0.170000	NM_032311			118	116		623	612	1		1	1		0	0	158	0		1	1	0	59	0	153	0	118	623
CYB5R3	1727	broad.mit.edu	37	22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000352397.5	-	2	289	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407623.3_5'UTR	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	13					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	ACTGGGAAGAGCACCATATGG	0.607																																						ENST00000352397.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997948	0.990000	1.000000																										0				6						c.(37-39)Ctc>Atc		cytochrome b5 reductase 3	Flavin adenine dinucleotide(DB03147)						75.0	64.0	68.0					22																	43032837		2203	4300	6503	SO:0001583	missense	1727	0	0					g.chr22:43032837G>T	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.37C>A	chr22.hg19:g.43032837G>T	ENSP00000338461:p.Leu13Ile	0					CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR	p.L13I	NM_000398.6	NP_000389.1	1	2	3	2.015224	P00387	NB5R3_HUMAN		2	289	-			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	1	1	hg19	c.37C>A	CCDS33658.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198982	0.38806	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.87571	-2.27;-2.2	4.96	2.68	0.31781	4.96	2.68	0.31781	.	0.873704	0.10018	N	0.726296	T	0.78381	0.4274	L	0.29908	0.895	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.10450	0.005;0.004	T	0.67616	-0.5625	10	0.21540	T	0.41	-29.9184	8.1457	0.31110	0.0:0.2946:0.5437:0.1617	.	46;13	B7Z7L3;P00387	.;NB5R3_HUMAN	I	46;13	ENSP00000354468:L46I;ENSP00000338461:L13I	ENSP00000338461:L13I	L	-	1	0	0	CYB5R3	41362781	41362781	0.874000	0.30092	0.999000	0.59377	0.861000	0.49209	0.867000	0.27968	1.206000	0.43276	0.467000	0.42956	CTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				21	20		142	139	1		1	1		0	0	30	0		9.999980e-01	1	0	118	0	433	0	21	142
A4GALT	53947	broad.mit.edu	37	22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	234					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGAAGTCCCGCATGCACAGCG	0.652																																						ENST00000401850.1	1.000000	0.250000	9.000000e-01	3.900000e-01	0.580000	0.620942	0.580000	1.000000																										0				11						c.(700-702)atG>atA		alpha 1,4-galactosyltransferase							23.0	19.0	20.0					22																	43089256		2197	4298	6495	SO:0001583	missense	53947	0	0					g.chr22:43089256C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.702G>A	chr22.hg19:g.43089256C>T	ENSP00000384794:p.Met234Ile	0					A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000465765.2_5'Flank	p.M234I			1	2	3	2.015224	Q9NPC4	A4GAT_HUMAN		2	1191	-			B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	0	1	hg19	c.702G>A	CCDS14041.1	0	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786510	0.49997	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.70749	-0.51;-0.51;-0.51	5.13	4.11	0.48088	5.13	4.11	0.48088	Alpha 1,4-glycosyltransferase domain (1);	0.082662	0.49916	D	0.000121	T	0.53578	0.1805	N	0.16903	0.455	0.32743	N	0.507462	B	0.10296	0.003	B	0.14023	0.01	T	0.57118	-0.7866	10	0.30078	T	0.28	-9.3769	12.372	0.55260	0.0:0.9157:0.0:0.0843	.	234	Q9NPC4	A4GAT_HUMAN	I	234	ENSP00000384794:M234I;ENSP00000249005:M234I;ENSP00000370678:M234I	ENSP00000249005:M234I	M	-	3	0	0	A4GALT	41419200	41419200	0.995000	0.38212	0.985000	0.45067	0.975000	0.68041	2.988000	0.49386	1.143000	0.42306	0.561000	0.74099	ATG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-10.691990	1	0.170000	NM_017436			7	7		149	148	0		1	1		0	0	20	0		9.809319e-01	9.316547e-01	0	5	0	99	0	7	149
TTLL1	25809	broad.mit.edu	37	22	43442432	43442432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	ENST00000266254.7	-	10	1366	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	TTLL1_ENST00000331018.7_Missense_Mutation_p.G347S|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	376					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCGTAATTGCCGAGGACTTCC	0.498																																						ENST00000266254.7	1.000000	0.290000	5.600000e-01	3.600000e-01	0.440000	0.494977	0.440000	0.430000																										0				23						c.(1126-1128)Ggc>Agc		tubulin tyrosine ligase-like family, member 1							390.0	307.0	335.0					22																	43442432		2203	4300	6503	SO:0001583	missense	25809	4	121412	39				g.chr22:43442432C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1126G>A	chr22.hg19:g.43442432C>T	ENSP00000266254:p.Gly376Ser	0					AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.G347S	p.G376S	NM_012263.4	NP_036395.1	1	2	3	2.015224	O95922	TTLL1_HUMAN		10	1366	-		Ovarian(80;0.0694)	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	1	1	hg19	c.1126G>A	CCDS14043.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.210431	0.95069	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.11712	2.75;3.6	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.78049	2.395	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.52598	0.703;0.577	T	0.01545	-1.1328	10	0.54805	T	0.06	.	19.548	0.95307	0.0:1.0:0.0:0.0	.	347;376	O95922-4;O95922	.;TTLL1_HUMAN	S	347;376	ENSP00000333734:G347S;ENSP00000266254:G376S	ENSP00000266254:G376S	G	-	1	0	0	TTLL1	41772376	41772376	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.740000	0.84986	2.621000	0.88768	0.555000	0.69702	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	0	0	1		2	2	2	0		0	0	187		187	187	1	2.060000	-2.628833	1	0.170000	NM_012263			28	28		747	732	0		1	0		0	0	187	0		1	4.506360e-01	0	1	0	40	0	28	747
TTLL1	25809	broad.mit.edu	37	22	43442565	43442565	+	Silent	SNP	C	C	T	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000266254.7	-	10	1233	c.993G>A	c.(991-993)ccG>ccA	p.P331P	TTLL1_ENST00000331018.7_Silent_p.P302P|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512																																						ENST00000266254.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(991-993)ccG>ccA		tubulin tyrosine ligase-like family, member 1		C		0,4406		0,0,2203	271.0	235.0	247.0		993	-3.0	0.4	22	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TTLL1	NM_012263.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		331/424	43442565	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25809	13	121412	44				g.chr22:43442565C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.993G>A	chr22.hg19:g.43442565C>T		0					AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.P302P	p.P331P	NM_012263.4	NP_036395.1	1	2	3	2.015224	O95922	TTLL1_HUMAN		10	1233	-		Ovarian(80;0.0694)	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	1	1	hg19	c.993G>A	CCDS14043.1	1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719347	0.15372	0.0	2.33E-4	ENSG00000100271	ENST00000495814	.	.	.	5.54	-2.99	0.05497	5.54	-2.99	0.05497	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	9.4624	0.38792	0.1029:0.5492:0.0:0.3479	.	.	.	.	H	257	.	.	R	-	2	0	0	TTLL1	41772509	41772509	0.000000	0.05858	0.388000	0.26195	0.796000	0.44982	-3.454000	0.00465	-0.266000	0.09339	0.549000	0.68633	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-3.594505	1	0.170000	NM_012263			104	99		401	394	1		1	1		0	0	120	0		1	9.997477e-01	0	7	0	42	0	104	401
TTLL1	25809	broad.mit.edu	37	22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000266254.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	244	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532																																						ENST00000266254.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(730-732)Gcc>Acc		tubulin tyrosine ligase-like family, member 1							212.0	183.0	193.0					22																	43459836		2203	4300	6503	SO:0001583	missense	25809	1	121412	31				g.chr22:43459836C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.730G>A	chr22.hg19:g.43459836C>T	ENSP00000266254:p.Ala244Thr	0					TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	p.A244T	NM_012263.4	NP_036395.1	1	2	3	2.015224	O95922	TTLL1_HUMAN		7	970	-		Ovarian(80;0.0694)	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	1	1	hg19	c.730G>A	CCDS14043.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910476	0.92107	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05855	3.38;3.38	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.66084	0.778;0.941	T	0.00258	-1.1871	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	244;244	O95922-4;O95922	.;TTLL1_HUMAN	T	244	ENSP00000333734:A244T;ENSP00000266254:A244T	ENSP00000266254:A244T	A	-	1	0	0	TTLL1	41789780	41789780	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_012263			88	88		394	387	1		1	1		0	0	93	0		1	9.895325e-01	0	6	0	28	0	88	394
MCAT	27349	broad.mit.edu	37	22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	383					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632																																						ENST00000290429.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1147-1149)Ctg>Atg		malonyl CoA:ACP acyltransferase (mitochondrial)							84.0	86.0	85.0					22																	43529075		2203	4300	6503	SO:0001583	missense	27349	0	0					g.chr22:43529075G>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1147C>A	chr22.hg19:g.43529075G>T	ENSP00000290429:p.Leu383Met	0					MCAT_ENST00000327555.5_3'UTR	p.L383M	NM_173467.4	NP_775738.3	1	2	3	2.015224	Q8IVS2	FABD_HUMAN		4	1192	-		Ovarian(80;0.0694)	B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	1	1	hg19	c.1147C>A	CCDS33660.1	1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514198	0.27123	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	4.28	-3.24	0.05094	4.28	-3.24	0.05094	.	2.333530	0.02116	N	0.055174	T	0.20820	0.0501	N	0.02011	-0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.21211	-1.0252	10	0.49607	T	0.09	-23.036	4.6378	0.12534	0.0882:0.4118:0.3598:0.1401	.	383	Q8IVS2	FABD_HUMAN	M	383	ENSP00000290429:L383M	ENSP00000290429:L383M	L	-	1	2	2	MCAT	41859019	41859019	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.101000	0.03336	-0.026000	0.13895	0.650000	0.86243	CTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_173467			97	93		518	506	1		1	1		0	0	164	0		1	9.999999e-01	0	37	0	86	0	97	518
SCUBE1	80274	broad.mit.edu	37	22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.4	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	591					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)			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)				AACTGCTGCCGGCCGATGGAC	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20575	0.0		0.001	False		,,,				2504	0.0					ENST00000360835.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1771-1773)Cgg>Tgg		signal peptide, CUB domain, EGF-like 1		G	TRP/ARG	0,4406		0,0,2203	104.0	110.0	108.0		1771	3.2	1.0	22	dbSNP_134	108	20,8580	15.3+/-51.7	0,20,4280	yes	missense	SCUBE1	NM_173050.3	101	0,20,6483	AA,AG,GG		0.2326,0.0,0.1538	probably-damaging	591/989	43614381	20,12986	2203	4300	6503	SO:0001583	missense	80274	117	121402	56				g.chr22:43614381G>A		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.1771C>T	chr22.hg19:g.43614381G>A	ENSP00000354080:p.Arg591Trp	0						p.R591W	NM_173050.3	NP_766638.2	1	2	3	2.015224	Q8IWY4	SCUB1_HUMAN		15	1897	-		all_neural(38;0.0414)|Ovarian(80;0.07)	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	1	0	hg19	c.1771C>T	CCDS14048.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101396	0.76983	0.0	0.002326	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86297	-2.1	4.29	3.2	0.36748	4.29	3.2	0.36748	.	0.162750	0.52532	D	0.000063	D	0.88706	0.6509	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.89037	0.3446	10	0.87932	D	0	.	9.6957	0.40156	0.0:0.0:0.5699:0.4301	.	591	Q8IWY4	SCUB1_HUMAN	W	591;221	ENSP00000354080:R591W	ENSP00000354080:R591W	R	-	1	2	2	SCUBE1	41944325	41944325	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.520000	0.35899	2.215000	0.71742	0.558000	0.71614	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1		2	2	2	0		0	0	182		182	180	1	2.060000	-3.220133	1	0.170000	NM_173050			148	147		767	759	1		1			0	0	182	0		1	0	0	0	0	0	0	148	767
SCUBE1	80274	broad.mit.edu	37	22	43623456	43623456	+	Silent	SNP	G	G	A	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	377	EGF-like 9; 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)			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)				TGGTGTTGACGCAGCCCTGGT	0.677																																						ENST00000360835.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1129-1131)tgC>tgT		signal peptide, CUB domain, EGF-like 1		G		2,4404	4.2+/-10.8	0,2,2201	79.0	63.0	68.0		1131	-1.0	1.0	22	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	SCUBE1	NM_173050.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		377/989	43623456	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80274	11	121378	38				g.chr22:43623456G>A		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.1131C>T	chr22.hg19:g.43623456G>A		0						p.C377C	NM_173050.3	NP_766638.2	1	2	3	2.015224	Q8IWY4	SCUB1_HUMAN		10	1257	-		all_neural(38;0.0414)|Ovarian(80;0.07)	Q5R336	Silent	SNP	ENST00000360835.4	1	1	hg19	c.1131C>T	CCDS14048.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_173050			39	39		151	149	1		1	0		0	0	33	0		1	0	0	0	0	1	0	39	151
SCUBE1	80274	broad.mit.edu	37	22	43634902	43634902	+	Silent	SNP	G	G	A	rs140715405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SCUBE1_ENST00000290460.7_Silent_p.G292G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	262	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {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)			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)				TGCATCGCACGCCAGTGGCTG	0.602													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19685	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(784-786)ggC>ggT		signal peptide, CUB domain, EGF-like 1							66.0	53.0	57.0					22																	43634902		2202	4300	6502	SO:0001819	synonymous_variant	80274	1	121342	28				g.chr22:43634902G>A		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.786C>T	chr22.hg19:g.43634902G>A		0					Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	p.G262G	NM_173050.3	NP_766638.2	1	2	3	2.015224	Q8IWY4	SCUB1_HUMAN		7	912	-		all_neural(38;0.0414)|Ovarian(80;0.07)	Q5R336	Silent	SNP	ENST00000360835.4	1	1	hg19	c.786C>T	CCDS14048.1	1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.631|1.631	-0.518974|-0.518974	0.04171|0.04171	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000449304	.|.	.|.	.|.	5.5|5.5	-9.04|-9.04	0.00734|0.00734	5.5|5.5	-9.04|-9.04	0.00734|0.00734	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43988|0.43988	-0.9357|-0.9357	5|4	0.37606|.	T|.	0.19|.	.|.	0.8891|0.8891	0.01250|0.01250	0.4082:0.1552:0.1447:0.2919|0.4082:0.1552:0.1447:0.2919	.|.	.|.	.|.	.|.	V|C	55|116	.|.	ENSP00000370642:A55V|.	A|R	-|-	2|1	0|0	0|0	SCUBE1|SCUBE1	41964846|41964846	41964846|41964846	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.025000|0.025000	0.11179|0.11179	-1.629000|-1.629000	0.02029|0.02029	-1.170000|-1.170000	0.02769|0.02769	-2.103000|-2.103000	0.00360|0.00360	GCG|CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_173050			56	53		188	187	1		1	0		0	0	42	0		1	5.440901e-02	0	0	0	2	0	56	188
SCUBE1	80274	broad.mit.edu	37	22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	140	EGF-like 3; 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)			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)				GCACTGACACTCGTAGCTGCC	0.547																																						ENST00000360835.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(418-420)gAg>gCg		signal peptide, CUB domain, EGF-like 1							110.0	66.0	81.0					22																	43687117		2203	4300	6503	SO:0001583	missense	80274	0	0					g.chr22:43687117T>G		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.419A>C	chr22.hg19:g.43687117T>G	ENSP00000354080:p.Glu140Ala	0					SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	p.E140A	NM_173050.3	NP_766638.2	1	2	3	2.015224	Q8IWY4	SCUB1_HUMAN		4	545	-		all_neural(38;0.0414)|Ovarian(80;0.07)	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	1	1	hg19	c.419A>C	CCDS14048.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637175	0.87760	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	4.97	4.97	0.65823	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	0.95118	0.8418	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.975;0.999	D	0.92922	0.6356	10	0.13470	T	0.59	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	140;140	B1AH90;Q8IWY4	.;SCUB1_HUMAN	A	140	ENSP00000354080:E140A;ENSP00000290460:E140A	ENSP00000290460:E140A	E	-	2	0	0	SCUBE1	42017061	42017061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_173050			33	32		111	110	1		1			0	0	39	0		1	0	0	0	0	0	0	33	111
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; 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)			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)				CCTGACACTCGTCCACATCTG	0.542																																						ENST00000360835.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(355-357)gaC>gaT		signal peptide, CUB domain, EGF-like 1		G		0,4406		0,0,2203	88.0	62.0	71.0		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80274	20	121410	44				g.chr22:43687179G>A		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.357C>T	chr22.hg19:g.43687179G>A		0					SCUBE1_ENST00000290460.7_Silent_p.D119D	p.D119D	NM_173050.3	NP_766638.2	1	2	3	2.015224	Q8IWY4	SCUB1_HUMAN		4	483	-		all_neural(38;0.0414)|Ovarian(80;0.07)	Q5R336	Silent	SNP	ENST00000360835.4	1	1	hg19	c.357C>T	CCDS14048.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_173050			38	38		158	154	1		1			0	0	67	0		1	0	0	0	0	0	0	38	158
EFCAB6	64800	broad.mit.edu	37	22	43936061	43936061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			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)				TGGGCAATGAGAGGGCAGATC	0.622																																						ENST00000262726.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3823-3825)ctC>ctT		EF-hand calcium binding domain 6							102.0	87.0	92.0					22																	43936061		2203	4300	6503	SO:0001819	synonymous_variant	64800	0	0					g.chr22:43936061G>A	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.3825C>T	chr22.hg19:g.43936061G>A		0					EFCAB6_ENST00000396231.2_Silent_p.L1123L|EFCAB6_ENST00000461800.1_5'UTR	p.L1275L	NM_022785.3	NP_073622.2	1	2	3	2.015224	Q5THR3	EFCB6_HUMAN		28	4078	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	1	1	hg19	c.3825C>T	CCDS14049.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-20.000000	1	0.170000	NM_022785			52	52		279	275	1		1	0		0	0	73	0		1	3.092715e-01	0	1	0	6	0	52	279
EFCAB6	64800	broad.mit.edu	37	22	43950755	43950755	+	Silent	SNP	G	G	A	rs375120220		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1214	EF-hand 14. {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)			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)				TTACCTGTTCGTCCGTCAGGA	0.512																																						ENST00000262726.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3640-3642)gaC>gaT		EF-hand calcium binding domain 6		G	,	0,4406		0,0,2203	119.0	106.0	110.0		3642,3186	-6.4	0.0	22		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFCAB6	NM_022785.3,NM_198856.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1214/1502,1062/1350	43950755	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64800	2	121412	36				g.chr22:43950755G>A	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.3642C>T	chr22.hg19:g.43950755G>A		0					EFCAB6_ENST00000396231.2_Silent_p.D1062D|EFCAB6_ENST00000461800.1_5'UTR	p.D1214D	NM_022785.3	NP_073622.2	1	2	3	2.015224	Q5THR3	EFCB6_HUMAN		27	3895	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	1	1	hg19	c.3642C>T	CCDS14049.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_022785			95	91		402	392	1		1	1		0	0	81	0		1	3.732265e-02	0	2	0	0	0	95	402
EFCAB6	64800	broad.mit.edu	37	22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	733					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			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)				TAGGGAAAAGCTTCAGGCATT	0.562																																						ENST00000262726.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2197-2199)aaG>aaT		EF-hand calcium binding domain 6							114.0	115.0	114.0					22																	44028018		2203	4300	6503	SO:0001583	missense	64800	0	0					g.chr22:44028018C>A	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.2199G>T	chr22.hg19:g.44028018C>A	ENSP00000262726:p.Lys733Asn	0					EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	p.K733N	NM_022785.3	NP_073622.2	1	2	3	2.015224	Q5THR3	EFCB6_HUMAN		19	2452	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	1	1	hg19	c.2199G>T	CCDS14049.1	1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457970	0.26161	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.61	-7.35	0.01422	4.61	-7.35	0.01422	EF-hand-like domain (1);	0.966024	0.08569	N	0.926282	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	P;P	0.48016	0.904;0.698	P;B	0.48227	0.571;0.201	T	0.06789	-1.0807	10	0.18276	T	0.48	-4.4141	15.3777	0.74625	0.0:0.7746:0.0:0.2254	.	581;733	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	581;733	ENSP00000379533:K581N;ENSP00000262726:K733N	ENSP00000262726:K733N	K	-	3	2	2	EFCAB6	42359351	42359351	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-1.587000	0.02108	-1.767000	0.01300	-0.302000	0.09304	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_022785			121	117		557	534	1		1	0		0	0	118	0		1	0	0	0	0	1	0	121	557
EFCAB6	64800	broad.mit.edu	37	22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	424	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)			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)				TTCTTCTCTTGTTATCGGTCC	0.343																																						ENST00000262726.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1270-1272)aCa>aTa		EF-hand calcium binding domain 6							84.0	83.0	83.0					22																	44074024		2203	4300	6503	SO:0001583	missense	64800	0	0					g.chr22:44074024G>A	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.1271C>T	chr22.hg19:g.44074024G>A	ENSP00000262726:p.Thr424Ile	0					EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I	p.T424I	NM_022785.3	NP_073622.2	1	2	3	2.015224	Q5THR3	EFCB6_HUMAN		13	1524	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	1	1	hg19	c.1271C>T	CCDS14049.1	1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552644	0.45487	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.86030	-2.06;-2.06	4.96	1.56	0.23342	4.96	1.56	0.23342	EF-hand-like domain (1);	0.232653	0.32901	N	0.005510	D	0.89815	0.6824	M	0.87547	2.89	0.09310	N	1	P	0.49090	0.919	P	0.57371	0.819	T	0.81697	-0.0815	10	0.54805	T	0.06	-8.9726	7.7694	0.28999	0.0:0.1602:0.5085:0.3313	.	424	Q5THR3	EFCB6_HUMAN	I	272;424	ENSP00000379533:T272I;ENSP00000262726:T424I	ENSP00000262726:T424I	T	-	2	0	0	EFCAB6	42405357	42405357	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.779000	0.26746	0.320000	0.23234	0.650000	0.86243	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_022785			55	54		217	213	1		1	1		0	0	40	0		1	1.092825e-01	0	2	0	1	0	55	217
EFCAB6	64800	broad.mit.edu	37	22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	180	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)			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)				AGCTCAAAGGCTTTCATAACA	0.368																																						ENST00000262726.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(538-540)Gcc>Acc		EF-hand calcium binding domain 6							121.0	115.0	117.0					22																	44131843		2203	4300	6503	SO:0001583	missense	64800	0	0					g.chr22:44131843C>T	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.538G>A	chr22.hg19:g.44131843C>T	ENSP00000262726:p.Ala180Thr	0					EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T	p.A180T	NM_022785.3	NP_073622.2	1	2	3	2.015224	Q5THR3	EFCB6_HUMAN		7	791	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	1	1	hg19	c.538G>A	CCDS14049.1	1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024267	0.54683	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.14	5.14	0.70334	5.14	5.14	0.70334	EF-hand-like domain (1);	0.189738	0.31859	N	0.006945	T	0.53190	0.1781	M	0.83118	2.625	0.29855	N	0.828138	D;D;D;P	0.65815	0.976;0.995;0.962;0.851	P;D;P;B	0.64144	0.606;0.922;0.681;0.307	T	0.54642	-0.8263	10	0.20519	T	0.43	-25.4603	6.6988	0.23213	0.2817:0.6351:0.0:0.0833	.	74;74;180;180	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	T	28;180;74;74	ENSP00000379533:A28T;ENSP00000262726:A180T;ENSP00000351219:A74T;ENSP00000348391:A74T	ENSP00000262726:A180T	A	-	1	0	0	EFCAB6	42463176	42463176	0.994000	0.37717	0.875000	0.34327	0.886000	0.51366	1.392000	0.34486	2.835000	0.97688	0.591000	0.81541	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_022785			75	75		336	333	1		1	1		0	0	85	0		1	3.785652e-01	0	2	0	5	0	75	336
SULT4A1	25830	broad.mit.edu	37	22	44234874	44234874	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582																																						ENST00000330884.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.e4-1		sulfotransferase family 4A, member 1							120.0	89.0	99.0					22																	44234874		2203	4300	6503	SO:0001630	splice_region_variant	25830	0	0					g.chr22:44234874C>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.382-1G>T	chr22.hg19:g.44234874C>A		0					SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site		NM_014351.3	NP_055166.1	1	2	3	2.015224	Q9BR01	ST4A1_HUMAN		4	502	-		Ovarian(80;0.024)|all_neural(38;0.0416)	B2R7N3|O43728	Splice_Site	SNP	ENST00000330884.4	1	1	hg19		CCDS14051.1	1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726121	0.69074	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.75	4.75	0.60458	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7041	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SULT4A1	42566207	42566207	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.396000	0.79891	2.175000	0.68902	0.655000	0.94253	.	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.268735	1	0.170000	NM_014351	Intron		62	61		263	258	1		1			0	0	67	0		1	0	0	0	0	0	0	62	263
SAMM50	25813	broad.mit.edu	37	22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000396202.3_De_novo_Start_InFrame|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	100					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGACAAGTGGATGTTTTGAT	0.368																																						ENST00000350028.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(298-300)Gat>Aat		SAMM50 sorting and assembly machinery component							114.0	119.0	117.0					22																	44364674		2203	4300	6503	SO:0001583	missense	25813	0	0					g.chr22:44364674G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.298G>A	chr22.hg19:g.44364674G>A	ENSP00000345445:p.Asp100Asn	0					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_De_novo_Start_InFrame	p.D100N	NM_015380.4	NP_056195.3	1	2	3	2.015224	Q9Y512	SAM50_HUMAN		4	455	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	1	1	hg19	c.298G>A	CCDS14055.1	1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103707	0.37145	.	.	ENSG00000100347	ENST00000350028	T	0.29397	1.57	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.052819	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.08472	-1.0720	10	0.02654	T	1	-35.8104	17.478	0.87666	0.0:0.0:1.0:0.0	.	100	Q9Y512	SAM50_HUMAN	N	100	ENSP00000345445:D100N	ENSP00000345445:D100N	D	+	1	0	0	SAMM50	42696007	42696007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_015380			88	87		407	401	1		1	1		0	0	106	0		1	9.999997e-01	0	11	0	90	0	88	407
SAMM50	25813	broad.mit.edu	37	22	44368124	44368124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368124G>A	ENST00000350028.4	+	5	488	c.331G>A	c.(331-333)Gca>Aca	p.A111T	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	111					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.A111S(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGTGATGACGCACTTCCAAA	0.363																																						ENST00000350028.4	1.000000	0.120000	4.500000e-01	1.800000e-01	0.280000	0.356381	0.280000	0.250000																										1	Substitution - Missense(1)	p.A111S(1)	lung(1)	22						c.(331-333)Gca>Aca		SAMM50 sorting and assembly machinery component							127.0	117.0	120.0					22																	44368124		2203	4300	6503	SO:0001583	missense	25813	2	121412	32				g.chr22:44368124G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.331G>A	chr22.hg19:g.44368124G>A	ENSP00000345445:p.Ala111Thr	0					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	p.A111T	NM_015380.4	NP_056195.3	1	2	3	2.015224	Q9Y512	SAM50_HUMAN		5	488	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	0	1	hg19	c.331G>A	CCDS14055.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.178579	0.94846	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.71170	-0.4671	10	0.41790	T	0.15	-25.4133	17.1579	0.86796	0.0:0.0:1.0:0.0	.	111	Q9Y512	SAM50_HUMAN	T	111	ENSP00000345445:A111T	ENSP00000345445:A111T	A	+	1	0	0	SAMM50	42699457	42699457	1.000000	0.71417	0.773000	0.31616	0.992000	0.81027	9.500000	0.97977	2.364000	0.80123	0.655000	0.94253	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.261571	1	0.170000	NM_015380			7	7		317	310	0		1	1		0	0	53	0		9.793431e-01	7.642908e-01	0	8	0	117	0	7	317
SAMM50	25813	broad.mit.edu	37	22	44368749	44368749	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368749A>C	ENST00000350028.4	+	6	586		c.e6-1		SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_Splice_Site	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTCCCCTCCTAGGTACTTGGC	0.403																																						ENST00000350028.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.e6-1		SAMM50 sorting and assembly machinery component							106.0	118.0	114.0					22																	44368749		2203	4300	6503	SO:0001630	splice_region_variant	25813	0	0					g.chr22:44368749A>C	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.430-1A>C	chr22.hg19:g.44368749A>C		0					SAMM50_ENST00000493161.1_Splice_Site|SAMM50_ENST00000396202.3_Intron		NM_015380.4	NP_056195.3	1	2	3	2.015224	Q9Y512	SAM50_HUMAN		6	586	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Splice_Site	SNP	ENST00000350028.4	1	0	hg19		CCDS14055.1	1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745547	0.69418	.	.	ENSG00000100347	ENST00000350028	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2869	0.66251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SAMM50	42700082	42700082	1.000000	0.71417	0.844000	0.33320	0.856000	0.48823	8.988000	0.93501	1.979000	0.57680	0.533000	0.62120	.	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	1	0	1		2	2	2	0		0	0	118		118	111	1	2.060000	-3.318794	1	0.170000	NM_015380	Intron		111	102		701	654	1		1			0	0	118	0		1	0	0	0	0	0	0	111	701
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627																																						ENST00000338758.7	1.000000	0.950000	1	9.900000e-01	0.990000	0.997155	0.990000	1.000000																										1	Substitution - Missense(1)	p.A355T(1)	large_intestine(1)	25						c.(964-966)Gcc>Acc		parvin, beta							130.0	94.0	107.0					22																	44559756		2203	4300	6503	SO:0001583	missense	29780	6	121412	39				g.chr22:44559756G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.964G>A	chr22.hg19:g.44559756G>A	ENSP00000342492:p.Ala322Thr	0					PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	p.A322T	NM_013327.4	NP_037459.2	1	2	3	2.015224	Q9HBI1	PARVB_HUMAN		12	1027	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	1	1	hg19	c.964G>A	CCDS14056.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	0	PARVB	42891089	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-15.135550	1	0.170000	NM_001003828			41	41		337	331	1		1	1		0	0	89	0		1	9.999999e-01	0	12	0	193	0	41	337
PARVG	64098	broad.mit.edu	37	22	44583713	44583713	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000415224.1_Silent_p.L68L|PARVG_ENST00000422871.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	68	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602																																						ENST00000444313.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(202-204)Ctg>Ttg		parvin, gamma							181.0	135.0	151.0					22																	44583713		2203	4300	6503	SO:0001819	synonymous_variant	64098	0	0					g.chr22:44583713C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.202C>T	chr22.hg19:g.44583713C>T		0					PARVG_ENST00000415224.1_Silent_p.L68L|PARVG_ENST00000422871.1_Silent_p.L68L	p.L68L	NM_022141.5	NP_071424.1	1	2	3	2.015224	Q9HBI0	PARVG_HUMAN		5	686	+		Ovarian(80;0.024)|all_neural(38;0.0299)	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	1	1	hg19	c.202C>T	CCDS14057.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.301975	1	0.170000	NM_022141			57	56		264	255	1		1	0		0	0	88	0		1	9.999984e-01	0	0	0	94	0	57	264
PARVG	64098	broad.mit.edu	37	22	44586501	44586501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000415224.1_Silent_p.D153D|PARVG_ENST00000422871.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	153					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607																																						ENST00000444313.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(457-459)gaC>gaT		parvin, gamma							98.0	78.0	85.0					22																	44586501		2203	4300	6503	SO:0001819	synonymous_variant	64098	0	0					g.chr22:44586501C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.459C>T	chr22.hg19:g.44586501C>T		0					PARVG_ENST00000415224.1_Silent_p.D153D|PARVG_ENST00000422871.1_Silent_p.D153D	p.D153D	NM_022141.5	NP_071424.1	1	2	3	2.015224	Q9HBI0	PARVG_HUMAN		7	943	+		Ovarian(80;0.024)|all_neural(38;0.0299)	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	1	1	hg19	c.459C>T	CCDS14057.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_022141			68	67		316	311	1		1	0		0	0	78	0		1	1	0	0	0	131	0	68	316
PARVG	64098	broad.mit.edu	37	22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000415224.1_Missense_Mutation_p.S304I|PARVG_ENST00000422871.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	304	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602																																						ENST00000444313.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				17						c.(910-912)aGc>aTc		parvin, gamma							85.0	79.0	81.0					22																	44602221		2203	4300	6503	SO:0001583	missense	64098	0	0					g.chr22:44602221G>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.911G>T	chr22.hg19:g.44602221G>T	ENSP00000391583:p.Ser304Ile	0					PARVG_ENST00000415224.1_Missense_Mutation_p.S304I|PARVG_ENST00000422871.1_Missense_Mutation_p.S304I	p.S304I	NM_022141.5	NP_071424.1	1	2	3	2.015224	Q9HBI0	PARVG_HUMAN		14	1395	+		Ovarian(80;0.024)|all_neural(38;0.0299)	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	1	1	hg19	c.911G>T	CCDS14057.1	1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090273	0.36855	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	1.33	0.21861	4.0	1.33	0.21861	Calponin homology domain (5);	0.428844	0.24779	N	0.035679	T	0.71500	0.3347	L	0.58810	1.83	0.43777	D	0.996304	D	0.89917	1.0	D	0.85130	0.997	T	0.69323	-0.5175	10	0.39692	T	0.17	-4.3916	11.0206	0.47715	0.0:0.5995:0.4005:0.0	.	304	Q9HBI0	PARVG_HUMAN	I	304	ENSP00000391453:S304I;ENSP00000391583:S304I;ENSP00000416761:S304I	ENSP00000416761:S304I	S	+	2	0	0	PARVG	42933554	42933554	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.476000	0.53143	0.731000	0.32448	0.491000	0.48974	AGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_022141			45	45		272	269	1		1	0		0	0	69	0		1	9.990770e-01	0	1	0	65	0	45	272
KIAA1644	85352	broad.mit.edu	37	22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	176						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGGCCTGTGGGGCTTGTGGC	0.687																																						ENST00000381176.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(526-528)Cca>Tca		KIAA1644							52.0	56.0	55.0					22																	44681381		2054	4201	6255	SO:0001583	missense	85352	0	0					g.chr22:44681381G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.526C>T	chr22.hg19:g.44681381G>A	ENSP00000370568:p.Pro176Ser	0						p.P176S	NM_001099294.1	NP_001092764.1	1	2	3	2.015224	Q3SXP7	K1644_HUMAN		4	658	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	1	1	hg19	c.526C>T	CCDS43025.1	1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063153	0.08388	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.83	0.33086	5.06	2.83	0.33086	.	0.164918	0.39407	N	0.001376	T	0.15046	0.0363	N	0.03608	-0.345	0.30181	N	0.800376	B	0.06786	0.001	B	0.10450	0.005	T	0.20974	-1.0259	8	0.10377	T	0.69	-29.3991	5.7321	0.18047	0.1539:0.1923:0.6538:0.0	.	176	Q3SXP7	K1644_HUMAN	S	176	.	ENSP00000370568:P176S	P	-	1	0	0	KIAA1644	43012714	43012714	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	1.915000	0.39976	2.345000	0.79718	0.561000	0.74099	CCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	1	0	1		2	2	2	0		0	0	106		106	102	1	2.060000	-3.199917	1	0.170000	NM_001099294			108	105		490	482	1		1	0		0	0	106	0		1	3.325014e-02	0	0	0	2	0	108	490
LDOC1L	84247	broad.mit.edu	37	22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	135										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)		AGGCCACACGCTCGGCCTCAC	0.627																																						ENST00000341255.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(403-405)gaG>gaT		leucine zipper, down-regulated in cancer 1-like							40.0	43.0	42.0					22																	44893032		2203	4300	6503	SO:0001583	missense	84247	0	0					g.chr22:44893032C>A	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.405G>T	chr22.hg19:g.44893032C>A	ENSP00000340434:p.Glu135Asp	0						p.E135D	NM_032287.2	NP_115663.2	1	2	3	2.015224	Q6ICC9	LDOCL_HUMAN		2	914	-		Ovarian(80;0.024)|all_neural(38;0.0416)	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	1	1	hg19	c.405G>T	CCDS33662.1	1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056134	0.36277	.	.	ENSG00000188636	ENST00000341255	T	0.19105	2.17	3.27	2.24	0.28232	3.27	2.24	0.28232	.	0.000000	0.47093	D	0.000258	T	0.11110	0.0271	N	0.24115	0.695	0.27200	N	0.960198	P	0.35745	0.518	B	0.36418	0.224	T	0.19516	-1.0303	10	0.14252	T	0.57	-14.7816	6.5382	0.22365	0.0:0.8664:0.0:0.1336	.	135	Q6ICC9	LDOCL_HUMAN	D	135	ENSP00000340434:E135D	ENSP00000340434:E135D	E	-	3	2	2	LDOC1L	43271696	43271696	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.504000	0.22626	0.956000	0.37904	0.591000	0.81541	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_032287			42	41		182	182	1		1	1		0	0	57	0		1	9.999962e-01	0	25	0	61	0	42	182
LDOC1L	84247	broad.mit.edu	37	22	44893044	44893044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	131										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)		CGGCCTCACCCGGGAAGCGGG	0.632																																						ENST00000341255.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(391-393)ccG>ccA		leucine zipper, down-regulated in cancer 1-like							38.0	42.0	41.0					22																	44893044		2203	4300	6503	SO:0001819	synonymous_variant	84247	1	121412	31				g.chr22:44893044C>T	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.393G>A	chr22.hg19:g.44893044C>T		0						p.P131P	NM_032287.2	NP_115663.2	1	2	3	2.015224	Q6ICC9	LDOCL_HUMAN		2	902	-		Ovarian(80;0.024)|all_neural(38;0.0416)	Q6ZTR1	Silent	SNP	ENST00000341255.3	1	1	hg19	c.393G>A	CCDS33662.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-2.546723	1	0.170000	NM_032287			40	40		203	201	1		1	1		0	0	58	0		1	9.999552e-01	0	24	0	56	0	40	203
PRR5	55615	broad.mit.edu	37	22	45132743	45132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000336985.6	+	8	1060	c.783C>T	c.(781-783)aaC>aaT	p.N261N	PRR5_ENST00000403581.1_Silent_p.N284N|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000006251.7_Silent_p.N252N|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	261					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CTCTGCTGAACCCCGTGCAGG	0.692																																						ENST00000336985.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(781-783)aaC>aaT		proline rich 5 (renal)							32.0	39.0	37.0					22																	45132743		2199	4291	6490	SO:0001819	synonymous_variant	55615	0	0					g.chr22:45132743C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.783C>T	chr22.hg19:g.45132743C>T		0					PRR5_ENST00000403581.1_Silent_p.N284N|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron	p.N261N	NM_181333.3	NP_851850.1	1	2	3	2.015224	P85299	PRR5_HUMAN		8	1060	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	1	1	hg19	c.783C>T	CCDS14058.1	1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558343	0.27827	.	.	ENSG00000186654	ENST00000455389	.	.	.	5.41	3.19	0.36642	5.41	3.19	0.36642	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	4.884	0.13694	0.1335:0.5366:0.2472:0.0827	.	.	.	.	I	221	.	.	T	+	2	0	0	PRR5	43511407	43511407	0.943000	0.32029	1.000000	0.80357	0.896000	0.52359	0.073000	0.14640	1.267000	0.44247	0.313000	0.20887	ACC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_001017528			115	112		418	412	0		1	1		0	0	80	0		1	9.999649e-01	0	20	0	36	0	115	418
ARHGAP8	23779	broad.mit.edu	37	22	45255624	45255624	+	Silent	SNP	C	C	T	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000389774.2	+	12	1125	c.984C>T	c.(982-984)agC>agT	p.S328S	ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000389773.5_Silent_p.S419S	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	328	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGGAGAGCAGCCTGCGTGTCA	0.667																																						ENST00000389774.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				29						c.(982-984)agC>agT		Rho GTPase activating protein 8							56.0	50.0	52.0					22																	45255624		2203	4300	6503	SO:0001819	synonymous_variant	23779	0	0					g.chr22:45255624C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.984C>T	chr22.hg19:g.45255624C>T		0					ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S|ARHGAP8_ENST00000389773.5_Silent_p.S419S	p.S328S	NM_001017526.1	NP_001017526.1	1	2	3	2.015224	P85298	RHG08_HUMAN		12	1125	+		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	1	1	hg19	c.984C>T	CCDS33664.1	1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728824	0.03135	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.14	0.806	0.18708	4.14	0.806	0.18708	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	5.938	0.19177	0.0:0.5978:0.1399:0.2623	.	.	.	.	V	368	.	.	A	+	2	0	0	PRR5-ARHGAP8	43634288	43634288	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	0.876000	0.28092	0.069000	0.16605	-1.512000	0.00943	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	1	0	1		2	2	2	0		0	0	27		27	28	1	2.060000	-20.000000	1	0.170000	NM_017701			31	29		159	153	0		1	1		0	0	27	0		1	9.999846e-01	0	46	0	47	0	31	159
PHF21B	112885	broad.mit.edu	37	22	45309858	45309858	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	225							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642																																						ENST00000313237.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(673-675)ctC>ctT		PHD finger protein 21B							57.0	57.0	57.0					22																	45309858		2202	4300	6502	SO:0001819	synonymous_variant	112885	0	0					g.chr22:45309858G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.675C>T	chr22.hg19:g.45309858G>A		0					PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	p.L225L	NM_138415.4	NP_612424.1	1	2	3	2.015224	Q96EK2	PF21B_HUMAN		5	825	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	1	1	hg19	c.675C>T	CCDS14061.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-3.434613	1	0.170000	NM_138415			100	100		395	370	0		1			0	0	89	0		1	0	0	0	0	0	0	100	395
NUP50	10762	broad.mit.edu	37	22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	39					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403																																						ENST00000347635.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(115-117)gCc>gAc		nucleoporin 50kDa							118.0	113.0	115.0					22																	45567527		2203	4300	6503	SO:0001583	missense	10762	0	0					g.chr22:45567527C>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.116C>A	chr22.hg19:g.45567527C>A	ENSP00000345895:p.Ala39Asp	0					NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR	p.A39D	NM_007172.3	NP_009103.2	1	2	3	2.015224	Q9UKX7	NUP50_HUMAN		3	582	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	1	1	hg19	c.116C>A	CCDS14062.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342059	0.81911	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000424634;ENST00000430547;ENST00000396096;ENST00000422489	.	.	.	4.82	4.82	0.62117	4.82	4.82	0.62117	Nuclear pore complex, NUP2/50/61 (1);	0.115168	0.64402	D	0.000018	T	0.69205	0.3085	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	T	0.65471	-0.6160	9	0.22109	T	0.4	-14.7002	13.265	0.60128	0.1587:0.8413:0.0:0.0	.	39	Q9UKX7	NUP50_HUMAN	D	39;11;39;39;11;39	.	ENSP00000345895:A39D	A	+	2	0	0	NUP50	43946191	43946191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.659000	0.74412	2.384000	0.81235	0.563000	0.77884	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				68	68		375	366	1		1	1		0	0	88	0		1	9.999820e-01	0	27	0	62	0	68	375
NUP50	10762	broad.mit.edu	37	22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418																																						ENST00000347635.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1060-1062)gaA>gaC		nucleoporin 50kDa							81.0	83.0	82.0					22																	45577225		2203	4300	6503	SO:0001583	missense	10762	0	0					g.chr22:45577225A>C	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1062A>C	chr22.hg19:g.45577225A>C	ENSP00000345895:p.Glu354Asp	0					NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|CTA-268H5.12_ENST00000610217.1_RNA	p.E354D	NM_007172.3	NP_009103.2	1	2	3	2.015224	Q9UKX7	NUP50_HUMAN		6	1528	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	1	1	hg19	c.1062A>C	CCDS14062.1	1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920281	0.73098	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.58	0.41010	5.72	3.58	0.41010	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.70275	2.135	0.58432	D	0.999998	D;P	0.60160	0.987;0.919	D;D	0.79108	0.992;0.934	T	0.47018	-0.9149	10	0.20046	T	0.44	-42.6985	9.3837	0.38329	0.7895:0.0:0.2105:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	D	354;326;104;326;133	ENSP00000345895:E354D;ENSP00000385555:E326D;ENSP00000406928:E104D;ENSP00000379403:E326D;ENSP00000416264:E133D	ENSP00000345895:E354D	E	+	3	2	2	NUP50	43955889	43955889	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.711000	0.25764	0.422000	0.26005	0.529000	0.55759	GAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-19.999970	1	0.170000				48	47		253	248	1		1	1		0	0	60	0		1	9.999999e-01	0	32	0	102	0	48	253
SMC1B	27127	broad.mit.edu	37	22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	746					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)			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)		AATACATTGAGACTCAATATT	0.289																																						ENST00000357450.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2236-2238)tCt>tTt		structural maintenance of chromosomes 1B							94.0	84.0	87.0					22																	45767427		1815	4065	5880	SO:0001583	missense	27127	0	0					g.chr22:45767427G>A	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.2237C>T	chr22.hg19:g.45767427G>A	ENSP00000350036:p.Ser746Phe	0					SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	p.S746F	NM_148674.3	NP_683515.3	1	2	3	2.015224	Q8NDV3	SMC1B_HUMAN		14	2236	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	1	1	hg19	c.2237C>T	CCDS43027.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634746	0.67130	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79749	-1.3;-1.14	5.66	5.66	0.87406	5.66	5.66	0.87406	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000019	D	0.87569	0.6210	L	0.60455	1.87	0.47994	D	0.999563	P;D;P	0.63880	0.543;0.993;0.92	P;D;P	0.65443	0.719;0.935;0.783	D	0.87998	0.2754	10	0.66056	D	0.02	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	746;746;746	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	F	746	ENSP00000350036:S746F;ENSP00000385902:S746F	ENSP00000350036:S746F	S	-	2	0	0	SMC1B	44146091	44146091	1.000000	0.71417	0.992000	0.48379	0.522000	0.34438	5.567000	0.67378	2.669000	0.90835	0.655000	0.94253	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_148674			41	41		128	127	1		1			0	0	87	0		1	0	0	0	0	0	0	41	128
SMC1B	27127	broad.mit.edu	37	22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	68					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)			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)		TCCAATATGTGCTCCATGAAT	0.338																																						ENST00000357450.4	1.000000	0.160000	4.800000e-01	2.300000e-01	0.320000	0.394418	0.320000	0.300000																										0				37						c.(202-204)gCa>gTa		structural maintenance of chromosomes 1B							122.0	117.0	118.0					22																	45804686		1806	4072	5878	SO:0001583	missense	27127	0	0					g.chr22:45804686G>A	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.203C>T	chr22.hg19:g.45804686G>A	ENSP00000350036:p.Ala68Val	0					SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	p.A68V	NM_148674.3	NP_683515.3	1	2	3	2.015224	Q8NDV3	SMC1B_HUMAN		2	202	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	1	1	hg19	c.203C>T	CCDS43027.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.236098	0.95240	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09817	2.94;3.25	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38931	0.1059	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.15093	-1.0449	10	0.72032	D	0.01	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	68;68	Q8NDV3-2;Q8NDV3-3	.;.	V	68	ENSP00000350036:A68V;ENSP00000385902:A68V	ENSP00000350036:A68V	A	-	2	0	0	SMC1B	44183350	44183350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.066000	0.93949	2.773000	0.95371	0.655000	0.94253	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.276303	1	0.170000	NM_148674			11	10		415	405	0		1	0		0	0	86	0		9.981256e-01	0	0	0	0	1	0	11	415
FBLN1	2192	broad.mit.edu	37	22	45946495	45946495	+	Splice_Site	SNP	C	C	T	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000327858.6	+	14	1792	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000348697.2_Splice_Site_p.T566M|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Splice_Site_p.T566M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	566	EGF-like 9; 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)			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)		TCCGCAGCCACGTAAGTCCCT	0.612													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		21109	0.0		0.0	False		,,,				2504	0.0					ENST00000327858.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1696-1698)aCg>aTg		fibulin 1		C	ILE/THR,MET/THR,MET/THR,ILE/THR	20,4386	27.2+/-55.0	0,20,2183	86.0	78.0	81.0		1697,1697,1697,1697	3.8	1.0	22	dbSNP_134	81	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	89,81,81,89	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	566/684,566/602,566/704,566/567	45946495	20,12986	2203	4300	6503	SO:0001630	splice_region_variant	2192	58	121412	50				g.chr22:45946495C>T		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.1697+1C>T	chr22.hg19:g.45946495C>T		0					FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000442170.2_Splice_Site_p.T566M|FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000348697.2_Splice_Site_p.T566M	p.T566M	NM_006486.2	NP_006477	1	2	3	2.015224	P23142	FBLN1_HUMAN		14	1792	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	1	0	hg19	c.1697C>T	CCDS14067.1	1	6|6	0.0027472527472527475|0.0027472527472527475	4|4	0.008130081300813009|0.008130081300813009	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.03|13.03	2.115394|2.115394	0.37339|0.37339	0.004539|0.004539	0.0|0.0	ENSG00000077942|ENSG00000077942	ENST00000402984;ENST00000262722;ENST00000340923|ENST00000348697;ENST00000327858;ENST00000442170	D;D;D|D;D;D	0.92805|0.84146	-2.25;-3.11;-1.59|-1.7;-1.81;-1.77	4.78|4.78	3.76|3.76	0.43208|0.43208	4.78|4.78	3.76|3.76	0.43208|0.43208	.|Epidermal growth factor-like (1);	0.186482|0.186482	0.46145|0.46145	D|D	0.000315|0.000315	T|T	0.81597|0.81597	0.4856|0.4856	L|L	0.35288|0.35288	1.05|1.05	0.42767|0.42767	D|D	0.993825|0.993825	D;D|D;D	0.58268|0.89917	0.982;0.982|0.984;1.0	B;P|P;D	0.44623|0.69654	0.406;0.455|0.873;0.965	T|T	0.82770|0.82770	-0.0293|-0.0293	10|10	0.45353|0.46703	T|T	0.12|0.11	.|.	8.6471|8.6471	0.34011|0.34011	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	604;566|566;566	B1AHL2;P23142-4|P23142;B1AHL4	.;.|FBLN1_HUMAN;.	I|M	604;566;566|566	ENSP00000385521:T604I;ENSP00000262722:T566I;ENSP00000342212:T566I|ENSP00000262723:T566M;ENSP00000331544:T566M;ENSP00000393812:T566M	ENSP00000262722:T566I|ENSP00000331544:T566M	T|T	+|+	2|2	0|0	0|0	FBLN1|FBLN1	44325159|44325159	44325159|44325159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	1.699000|1.699000	0.37804|0.37804	2.205000|2.205000	0.71048|0.71048	0.462000|0.462000	0.41574|0.41574	ACC;ACC;ACA|ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_006486	Missense_Mutation		84	83		391	384	1		1	0	0	0	0	77	0		1	1	0	1	0	362	1	84	391
ATXN10	25814	broad.mit.edu	37	22	46125440	46125440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	288					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGTGCTCAAGCTGGCCTCTG	0.502																																						ENST00000252934.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(862-864)aaG>aaA		ataxin 10							128.0	99.0	109.0					22																	46125440		2203	4300	6503	SO:0001819	synonymous_variant	25814	0	0					g.chr22:46125440G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.864G>A	chr22.hg19:g.46125440G>A		0					ATXN10_ENST00000381061.4_Silent_p.K224K	p.K288K	NM_013236.3	NP_037368.1	1	2	3	2.015224	Q9UBB4	ATX10_HUMAN		7	1129	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	1	1	hg19	c.864G>A	CCDS14070.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	1	0	1		2	2	2	0		0	0	77		77	74	1	2.060000	-20.000000	1	0.170000	NM_013236			79	77		338	334	1		1	1		0	0	77	0		1	1	0	29	0	235	0	79	338
PPARA	5465	broad.mit.edu	37	22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	155					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)			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)	CAAATGCCAGTATTGTCGATT	0.498																																						ENST00000396000.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(463-465)Tat>Cat		peroxisome proliferator-activated receptor alpha	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)						221.0	193.0	203.0					22																	46614253		2203	4300	6503	SO:0001583	missense	5465	0	0					g.chr22:46614253T>C	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.463T>C	chr22.hg19:g.46614253T>C	ENSP00000379322:p.Tyr155His	0					PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H	p.Y155H			1	2	3	2.015224	Q07869	PPARA_HUMAN		5	728	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	1	1	hg19	c.463T>C	CCDS33669.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369900	0.82573	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.67	4.65	0.58169	5.67	4.65	0.58169	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.116886	0.64402	D	0.000011	D	0.97173	0.9076	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.66056	D	0.02	.	10.7817	0.46382	0.0:0.0738:0.0:0.9262	.	155;155	F1D8S4;Q07869	.;PPARA_HUMAN	H	155	ENSP00000379322:Y155H;ENSP00000262735:Y155H;ENSP00000385523:Y155H;ENSP00000385246:Y155H;ENSP00000408149:Y155H	ENSP00000262735:Y155H	Y	+	1	0	0	PPARA	44992917	44992917	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.119000	0.71590	0.981000	0.38548	0.482000	0.46254	TAT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000	NM_001001928			131	131		565	550	1		1	1		0	0	118	0		1	9.997540e-01	0	19	0	35	0	131	565
PPARA	5465	broad.mit.edu	37	22	46627925	46627925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000407236.1_Silent_p.A316A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	316	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)			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)	TTTATGAGGCCATATTCGCCA	0.473																																						ENST00000396000.2	1.000000	0.220000	5.100000e-01	2.900000e-01	0.370000	0.437396	0.370000	0.360000																										0				15						c.(946-948)gcC>gcT		peroxisome proliferator-activated receptor alpha	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)						142.0	127.0	132.0					22																	46627925		2203	4300	6503	SO:0001819	synonymous_variant	5465	0	0					g.chr22:46627925C>T	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.948C>T	chr22.hg19:g.46627925C>T		0					PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR	p.A316A			1	2	3	2.015224	Q07869	PPARA_HUMAN		7	1213	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	1	1	hg19	c.948C>T	CCDS33669.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	0	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-3.050578	1	0.170000	NM_001001928			18	18		574	560	0		1	0		0	0	122	0		9.999779e-01	1.458507e-01	0	0	0	21	0	18	574
PKDREJ	10343	broad.mit.edu	37	22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1796					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)			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)		TTGCTCTCACTTGCCTCATCA	0.418																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999375	0.990000	1.000000																										0				73						c.(5386-5388)caA>caC		polycystin (PKD) family receptor for egg jelly							162.0	164.0	164.0					22																	46653832		2203	4300	6503	SO:0001583	missense	10343	0	0					g.chr22:46653832T>G	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.5388A>C	chr22.hg19:g.46653832T>G	ENSP00000253255:p.Gln1796His	0						p.Q1796H	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	5387	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.5388A>C	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672873	0.67928	.	.	ENSG00000130943	ENST00000253255	T	0.74737	-0.87	4.8	-2.72	0.05968	4.8	-2.72	0.05968	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.52532	D	0.000062	T	0.81987	0.4939	M	0.78637	2.42	0.35820	D	0.824515	D	0.89917	1.0	D	0.77004	0.989	T	0.82853	-0.0252	10	0.87932	D	0	-21.0554	10.1347	0.42699	0.0:0.3969:0.0:0.6031	.	1796	Q9NTG1	PKDRE_HUMAN	H	1796	ENSP00000253255:Q1796H	ENSP00000253255:Q1796H	Q	-	3	2	2	PKDREJ	45032496	45032496	0.656000	0.27385	0.977000	0.42913	0.968000	0.65278	-0.152000	0.10159	-0.478000	0.06823	0.254000	0.18369	CAA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1		2	2	2	0		0	0	239		239	239	1	2.060000	-20.000000	1	0.170000	NM_006071			123	119		1098	1078	1		1			0	0	239	0		1	0	0	0	0	0	0	123	1098
PKDREJ	10343	broad.mit.edu	37	22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1241	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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)			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)		GACCCCCAACGACTTCCTGTA	0.448																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(3721-3723)Cgt>Tgt		polycystin (PKD) family receptor for egg jelly							91.0	96.0	94.0					22																	46655499		2203	4300	6503	SO:0001583	missense	10343	1	121412	31				g.chr22:46655499G>A	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.3721C>T	chr22.hg19:g.46655499G>A	ENSP00000253255:p.Arg1241Cys	0						p.R1241C	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	3720	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.3721C>T	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000130943	ENST00000253255	T	0.65364	-0.15	5.04	5.04	0.67666	5.04	5.04	0.67666	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000009	D	0.83179	0.5198	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.86768	0.1971	10	0.72032	D	0.01	-23.7677	17.7521	0.88438	0.0:0.0:1.0:0.0	.	1241	Q9NTG1	PKDRE_HUMAN	C	1241	ENSP00000253255:R1241C	ENSP00000253255:R1241C	R	-	1	0	0	PKDREJ	45034163	45034163	1.000000	0.71417	0.977000	0.42913	0.735000	0.41995	4.500000	0.60387	2.520000	0.84964	0.561000	0.74099	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_006071			109	108		481	474	1		1	0		0	0	111	0		1	0	0	0	0	1	0	109	481
PKDREJ	10343	broad.mit.edu	37	22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1142					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)			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)		CCCAGCTGCCGCCTAGCCCTT	0.507																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(3424-3426)Cgg>Tgg		polycystin (PKD) family receptor for egg jelly							185.0	160.0	169.0					22																	46655796		2203	4300	6503	SO:0001583	missense	10343	2	121412	34				g.chr22:46655796G>A	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.3424C>T	chr22.hg19:g.46655796G>A	ENSP00000253255:p.Arg1142Trp	0						p.R1142W	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	3423	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.3424C>T	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865749	0.32977	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	5.23	4.15	0.48705	5.23	4.15	0.48705	GPS domain (1);	1.823990	0.02647	N	0.105979	T	0.57227	0.2039	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.40040	-0.9584	10	0.62326	D	0.03	-22.7006	4.9462	0.13991	0.0848:0.1362:0.6207:0.1583	.	1142	Q9NTG1	PKDRE_HUMAN	W	1142	ENSP00000253255:R1142W	ENSP00000253255:R1142W	R	-	1	2	2	PKDREJ	45034460	45034460	0.009000	0.17119	0.820000	0.32676	0.004000	0.04260	1.203000	0.32284	2.623000	0.88846	0.561000	0.74099	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_006071			129	127		582	574	1		1	0		0	0	140	0		1	3.335880e-02	0	1	0	1	0	129	582
PKDREJ	10343	broad.mit.edu	37	22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1097					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)			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)		AAAATAGAAATTCTCACTAGC	0.473																																						ENST00000253255.5	1.000000	0.740000	1	9.000000e-01	0.990000	0.964343	0.990000	1.000000																										0				73						c.(3289-3291)Att>Gtt		polycystin (PKD) family receptor for egg jelly							87.0	82.0	84.0					22																	46655931		2203	4300	6503	SO:0001583	missense	10343	0	0					g.chr22:46655931T>C	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.3289A>G	chr22.hg19:g.46655931T>C	ENSP00000253255:p.Ile1097Val	0						p.I1097V	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	3288	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.3289A>G	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511945	0.27036	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.2	4.16	0.48862	5.2	4.16	0.48862	.	0.089619	0.47455	N	0.000232	T	0.37812	0.1017	M	0.65498	2.005	0.09310	N	1	P	0.39181	0.663	B	0.33042	0.157	T	0.28332	-1.0047	10	0.26408	T	0.33	-28.9567	5.6471	0.17596	0.1503:0.0805:0.0:0.7692	.	1097	Q9NTG1	PKDRE_HUMAN	V	1097	ENSP00000253255:I1097V	ENSP00000253255:I1097V	I	-	1	0	0	PKDREJ	45034595	45034595	0.816000	0.29132	0.012000	0.15200	0.102000	0.19082	2.169000	0.42434	0.942000	0.37525	0.374000	0.22700	ATT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_006071			28	27		283	278	0		1	0		0	0	65	0		1	8.852079e-03	0	1	0	1	0	28	283
PKDREJ	10343	broad.mit.edu	37	22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1076					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)			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)		TATGGATACAGTACAGTGGGG	0.512																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				73						c.(3226-3228)aCt>aTt		polycystin (PKD) family receptor for egg jelly							48.0	42.0	44.0					22																	46655993		2203	4300	6503	SO:0001583	missense	10343	0	0					g.chr22:46655993G>A	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.3227C>T	chr22.hg19:g.46655993G>A	ENSP00000253255:p.Thr1076Ile	0						p.T1076I	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	3226	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.3227C>T	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718557	0.30503	.	.	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.93	-4.29	0.03721	4.93	-4.29	0.03721	.	2.079570	0.01985	N	0.045099	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.33317	-0.9873	10	0.54805	T	0.06	-0.9435	5.2917	0.15731	0.2422:0.0:0.3316:0.4262	.	1076	Q9NTG1	PKDRE_HUMAN	I	1076	ENSP00000253255:T1076I	ENSP00000253255:T1076I	T	-	2	0	0	PKDREJ	45034657	45034657	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.064000	0.11636	-0.302000	0.08869	0.455000	0.32223	ACT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_006071			30	30		147	146	1		1	0		0	0	33	0		1	0	0	1	0	0	0	30	147
PKDREJ	10343	broad.mit.edu	37	22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	836	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)			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)		GTCTGATAGAGATTCTATTAC	0.353																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(2506-2508)tCt>tAt		polycystin (PKD) family receptor for egg jelly							65.0	67.0	66.0					22																	46656713		2203	4300	6503	SO:0001583	missense	10343	0	0					g.chr22:46656713G>T	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.2507C>A	chr22.hg19:g.46656713G>T	ENSP00000253255:p.Ser836Tyr	0						p.S836Y	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	2506	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	1	1	hg19	c.2507C>A	CCDS14073.1	1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424952	0.43020	.	.	ENSG00000130943	ENST00000253255	T	0.36699	1.24	5.18	3.0	0.34707	5.18	3.0	0.34707	Egg jelly receptor, REJ-like (1);	0.806157	0.10979	N	0.612902	T	0.30665	0.0772	L	0.50333	1.59	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.31779	-0.9931	10	0.59425	D	0.04	-10.9169	2.5692	0.04790	0.1803:0.1451:0.5255:0.1492	.	836	Q9NTG1	PKDRE_HUMAN	Y	836	ENSP00000253255:S836Y	ENSP00000253255:S836Y	S	-	2	0	0	PKDREJ	45035377	45035377	0.005000	0.15991	0.003000	0.11579	0.153000	0.21895	0.800000	0.27042	1.260000	0.44134	0.561000	0.74099	TCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_006071			40	40		160	160	1		1			0	0	39	0		1	0	0	0	0	0	0	40	160
PKDREJ	10343	broad.mit.edu	37	22	46657717	46657717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	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)			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)		ATAGCATCTCACCACCTGAAG	0.373																																						ENST00000253255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1501-1503)ggT>ggC		polycystin (PKD) family receptor for egg jelly							153.0	173.0	166.0					22																	46657717		2203	4300	6503	SO:0001819	synonymous_variant	10343	0	0					g.chr22:46657717A>G	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.1503T>C	chr22.hg19:g.46657717A>G		0						p.G501G	NM_006071.1	NP_006062.1	1	2	3	2.015224	Q9NTG1	PKDRE_HUMAN		1	1502	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	1	1	hg19	c.1503T>C	CCDS14073.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	0	0	0		2	2	2	0		0	0	251		251	249	1	2.060000	-20.000000	1	0.170000	NM_006071			237	233		984	956	1		1	1		0	0	251	0		1	1.718644e-01	0	3	0	1	0	237	984
TTC38	55020	broad.mit.edu	37	22	46685356	46685356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687																																						ENST00000381031.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.996721	0.990000	1.000000																										0				12						c.(1138-1140)tgC>tgT		tetratricopeptide repeat domain 38							28.0	36.0	33.0					22																	46685356		2085	4197	6282	SO:0001819	synonymous_variant	55020	0	0					g.chr22:46685356C>T		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.1140C>T	chr22.hg19:g.46685356C>T		0					TTC38_ENST00000445282.2_Silent_p.C322C	p.C380C	NM_017931.2	NP_060401	1	2	3	2.015224	Q5R3I4	TTC38_HUMAN		12	1216	+			Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	1	1	hg19	c.1140C>T	CCDS43030.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_017931			33	32		263	261	1		1	1		0	0	45	0		1	9.998409e-01	0	17	0	91	0	33	263
GTSE1	51512	broad.mit.edu	37	22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T	rs554280575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					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)				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)		GTACAAAGAAGCTCACTTACT	0.567																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(313-315)Gct>Tct		G-2 and S-phase expressed 1							69.0	78.0	75.0					22																	46704391		2203	4300	6503	SO:0001583	missense	51512	0	0					g.chr22:46704391G>T	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.313G>T	chr22.hg19:g.46704391G>T	ENSP00000415430:p.Ala105Ser	0						p.A105S	NM_016426.6	NP_057510	1	2	3	2.015224	Q9NYZ3	GTSE1_HUMAN		4	525	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	1	1	hg19	c.313G>T	CCDS14074.2	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757456	0.89843	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.42900	0.96	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:0.0:1.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	S	105;65	ENSP00000415430:A105S	ENSP00000354634:A65S	A	+	1	0	0	GTSE1	45083055	45083055	1.000000	0.71417	0.620000	0.29132	0.827000	0.46813	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_016426			123	122		429	423	1		1	1		0	0	127	0		1	9.322830e-01	0	4	0	14	0	123	429
GTSE1	51512	broad.mit.edu	37	22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	403					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)				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)		CCCAACCCCAGACTCCGGAAG	0.597																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1264-1266)caG>caT		G-2 and S-phase expressed 1							33.0	40.0	38.0					22																	46712143		2201	4299	6500	SO:0001583	missense	51512	0	0					g.chr22:46712143G>T	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.1266G>T	chr22.hg19:g.46712143G>T	ENSP00000415430:p.Gln422His	0						p.Q422H	NM_016426.6	NP_057510	1	2	3	2.015224	Q9NYZ3	GTSE1_HUMAN		7	1478	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	1	1	hg19	c.1266G>T	CCDS14074.2	1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872121	0.17322	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	4.61	3.58	0.41010	4.61	3.58	0.41010	.	1.240630	0.05179	N	0.501016	T	0.10252	0.0251	L	0.34521	1.04	0.32355	N	0.558	B;B	0.28208	0.056;0.203	B;B	0.26864	0.029;0.074	T	0.21655	-1.0239	10	0.42905	T	0.14	-0.368	13.7669	0.63002	0.0:0.1554:0.8446:0.0	.	403;382	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	422;382	ENSP00000415430:Q422H	ENSP00000354634:Q382H	Q	+	3	2	2	GTSE1	45090807	45090807	0.396000	0.25262	0.114000	0.21550	0.331000	0.28603	1.576000	0.36504	1.281000	0.44480	-0.181000	0.13052	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_016426			74	73		424	416	1		1	1		0	0	90	0		1	7.426284e-01	0	4	0	13	0	74	424
CELSR1	9620	broad.mit.edu	37	22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2058					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTCAAATGCTTTGGGACAG	0.607											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262738.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(6172-6174)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 1							51.0	49.0	50.0					22																	46787161		2203	4300	6503	SO:0001583	missense	9620	0	0					g.chr22:46787161C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6172G>A	chr22.hg19:g.46787161C>T	ENSP00000262738:p.Ala2058Thr	0		OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.A2058T	NM_014246.1	NP_055061.1	1	2	3	2.015224	Q9NYQ6	CELR1_HUMAN		16	6171	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	1	1	hg19	c.6172G>A	CCDS14076.1	1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384062	0.61845	.	.	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.03	4.03	0.46877	4.03	4.03	0.46877	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	U	0.000002	T	0.72859	0.3513	L	0.35593	1.075	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.79108	0.992;0.585	T	0.73316	-0.4021	10	0.38643	T	0.18	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	379;2058	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2058	ENSP00000262738:A2058T	ENSP00000262738:A2058T	A	-	1	0	0	CELSR1	45165825	45165825	0.998000	0.40836	0.604000	0.28916	0.179000	0.23085	3.466000	0.53071	1.964000	0.57103	0.462000	0.41574	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_014246			41	39		173	167	1		1	1		0	0	43	0		1	9.924414e-01	0	11	0	24	0	41	173
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	G	A	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1381	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687																																						ENST00000262738.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				95						c.(4141-4143)cgC>cgT		cadherin, EGF LAG seven-pass G-type receptor 1							13.0	11.0	12.0					22																	46859644		2095	4132	6227	SO:0001819	synonymous_variant	9620	2	119160	29				g.chr22:46859644G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4143C>T	chr22.hg19:g.46859644G>A		0					CELSR1_ENST00000395964.1_Silent_p.R1381R	p.R1381R	NM_014246.1	NP_055061.1	1	2	3	2.015224	Q9NYQ6	CELR1_HUMAN		2	4142	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	1	1	hg19	c.4143C>T	CCDS14076.1	1	.	.	.	.	.	.	.	.	.	.	G	4.939	0.174509	0.09391	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.22	-7.57	0.01318	4.22	-7.57	0.01318	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	0.9322	0.01338	0.373:0.1609:0.2912:0.1749	.	.	.	.	V	756	.	.	A	-	2	0	0	CELSR1	45238308	45238308	0.209000	0.23505	0.890000	0.34922	0.479000	0.33129	-0.551000	0.06027	-1.286000	0.02384	-2.815000	0.00110	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_014246			20	20		89	87	1		1	1		0	0	28	0		9.999972e-01	7.200139e-01	0	5	0	8	0	20	89
CELSR1	9620	broad.mit.edu	37	22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	926	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632																																						ENST00000262738.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				95						c.(2776-2778)cGt>cAt		cadherin, EGF LAG seven-pass G-type receptor 1							36.0	33.0	34.0					22																	46930291		2200	4297	6497	SO:0001583	missense	9620	1	121368	27				g.chr22:46930291C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2777G>A	chr22.hg19:g.46930291C>T	ENSP00000262738:p.Arg926His	0					CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H|CELSR1_ENST00000497509.1_5'Flank	p.R926H	NM_014246.1	NP_055061.1	1	2	3	2.015224	Q9NYQ6	CELR1_HUMAN		1	2776	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	1	1	hg19	c.2777G>A	CCDS14076.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212976|3.212976	0.58452|0.58452	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.54479|.	0.57;0.57|.	4.42|4.42	4.42|4.42	0.53409|0.53409	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.48986|0.48986	1.54|1.54	0.40734|0.40734	D|D	0.982777|0.982777	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.72032|.	D|.	0.01|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926|.	Q9NYQ6|.	CELR1_HUMAN|.	H|I	926|301	ENSP00000262738:R926H;ENSP00000379293:R926H|.	ENSP00000262738:R926H|.	R|V	-|-	2|1	0|0	0|0	CELSR1|CELSR1	45308955|45308955	45308955|45308955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.538000|0.538000	0.34931|0.34931	7.376000|7.376000	0.79658|0.79658	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CGT|GTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_014246			39	39		220	217	1		1	1		0	0	53	0		1	9.944466e-01	0	16	0	32	0	39	220
CELSR1	9620	broad.mit.edu	37	22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	445	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672																																						ENST00000262738.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(1333-1335)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							61.0	37.0	45.0					22																	46931735		2198	4292	6490	SO:0001583	missense	9620	0	0					g.chr22:46931735C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1333G>A	chr22.hg19:g.46931735C>T	ENSP00000262738:p.Val445Met	0					CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M|CELSR1_ENST00000497509.1_5'Flank	p.V445M	NM_014246.1	NP_055061.1	1	2	3	2.015224	Q9NYQ6	CELR1_HUMAN		1	1332	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	1	1	hg19	c.1333G>A	CCDS14076.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261258	0.80246	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	U	0.000025	T	0.68439	0.3001	H	0.95712	3.71	0.46774	D	0.999194	D	0.89917	1.0	D	0.91635	0.999	T	0.80346	-0.1421	10	0.87932	D	0	.	17.4763	0.87659	0.0:1.0:0.0:0.0	.	445	Q9NYQ6	CELR1_HUMAN	M	445	ENSP00000262738:V445M;ENSP00000379293:V445M	ENSP00000262738:V445M	V	-	1	0	0	CELSR1	45310399	45310399	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.498000	0.81546	2.218000	0.71995	0.462000	0.41574	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_014246			71	71		204	203	1		1	1		0	0	39	0		1	9.773234e-01	0	8	0	12	0	71	204
CERK	64781	broad.mit.edu	37	22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	59	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAACGGCGATGATCTCA	0.443																																						ENST00000216264.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(175-177)Gcc>Acc		ceramide kinase							198.0	179.0	185.0					22																	47116880		2203	4300	6503	SO:0001583	missense	64781	0	0					g.chr22:47116880C>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.175G>A	chr22.hg19:g.47116880C>T	ENSP00000216264:p.Ala59Thr	0					CERK_ENST00000541677.1_5'UTR	p.A59T	NM_022766.5	NP_073603.2	1	2	3	2.015224	Q8TCT0	CERK1_HUMAN		2	287	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	1	1	hg19	c.175G>A	CCDS14077.1	1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049190	0.19827	.	.	ENSG00000100422	ENST00000216264	T	0.17854	2.25	4.97	-6.69	0.01772	4.97	-6.69	0.01772	Pleckstrin homology domain (1);	0.773503	0.12547	N	0.459389	T	0.08537	0.0212	N	0.19112	0.55	0.30647	N	0.75581	B	0.18310	0.027	B	0.11329	0.006	T	0.32508	-0.9904	10	0.19590	T	0.45	-12.3365	12.5308	0.56113	0.1105:0.7122:0.0:0.1772	.	59	Q8TCT0	CERK1_HUMAN	T	59	ENSP00000216264:A59T	ENSP00000216264:A59T	A	-	1	0	0	CERK	45495544	45495544	0.456000	0.25744	0.004000	0.12327	0.304000	0.27724	-0.668000	0.05268	-1.512000	0.01791	-0.259000	0.10710	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_022766			115	115		557	543	1		1	1		0	0	139	0		1	9.799150e-01	0	9	0	23	0	115	557
TBC1D22A	25771	broad.mit.edu	37	22	47193447	47193447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000380995.1_Silent_p.A142A|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Silent_p.A142A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAGCTCAGCGCTGAGCGAAA	0.647											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(565-567)gcG>gcA		TBC1 domain family, member 22A							37.0	33.0	34.0					22																	47193447		2203	4300	6503	SO:0001819	synonymous_variant	25771	2	121408	32				g.chr22:47193447G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.567G>A	chr22.hg19:g.47193447G>A		0		OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A	p.A189A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	1	2	3	2.015224	Q8WUA7	TB22A_HUMAN		4	733	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	1	1	hg19	c.567G>A	CCDS14078.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_014346			56	55		229	225	0		1	1		0	0	69	0		1	9.999969e-01	0	15	0	65	0	56	229
TBC1D22A	25771	broad.mit.edu	37	22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	383	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTGCCCAACCTGGGATTCAA	0.453																																						ENST00000337137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1147-1149)cCt>cAt		TBC1 domain family, member 22A							73.0	74.0	74.0					22																	47393552		2203	4300	6503	SO:0001583	missense	25771	0	0					g.chr22:47393552C>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1148C>A	chr22.hg19:g.47393552C>A	ENSP00000336724:p.Pro383His	0					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H	p.P383H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	1	2	3	2.015224	Q8WUA7	TB22A_HUMAN		10	1314	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	1	1	hg19	c.1148C>A	CCDS14078.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452041	0.84209	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.66	5.66	0.87406	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.995	T	0.58188	-0.7680	10	0.72032	D	0.01	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	383;305;324;383	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	383;324;305;336	ENSP00000336724:P383H;ENSP00000384036:P324H;ENSP00000347932:P305H;ENSP00000385634:P336H	ENSP00000336724:P383H	P	+	2	0	0	TBC1D22A	45772216	45772216	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	6.423000	0.73361	2.654000	0.90174	0.650000	0.86243	CCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.208770	1	0.170000	NM_014346			68	67		298	295	1		1	1		0	0	65	0		1	1	0	27	0	126	0	68	298
TBC1D22A	25771	broad.mit.edu	37	22	47569242	47569242	+	Silent	SNP	C	C	T	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000407381.3_Silent_p.A450A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000406733.1_Silent_p.A462A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	509							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGCTTTTGCCGACGCCCCCA	0.647																																						ENST00000337137.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(1525-1527)gcC>gcT		TBC1 domain family, member 22A		C		2,4404	4.2+/-10.8	0,2,2201	95.0	98.0	97.0		1527	-10.4	0.0	22	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	TBC1D22A	NM_014346.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		509/518	47569242	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25771	2	121412	39				g.chr22:47569242C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1527C>T	chr22.hg19:g.47569242C>T		0					TBC1D22A_ENST00000406733.1_Silent_p.A462A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A	p.A509A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	1	2	3	2.015224	Q8WUA7	TB22A_HUMAN		13	1693	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	1	1	hg19	c.1527C>T	CCDS14078.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-3.221884	1	0.170000	NM_014346			93	92		636	630	1		1	1		0	0	167	0		1	9.999904e-01	0	15	0	97	0	93	636
FAM19A5	25817	broad.mit.edu	37	22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T	rs373045207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000402357.1	+	2	312	c.179C>T	c.(178-180)aCg>aTg	p.T60M	FAM19A5_ENST00000358295.5_Missense_Mutation_p.T53M|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	60						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCTCGGAGGACGATCGCCCGG	0.692																																						ENST00000402357.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				7						c.(178-180)aCg>aTg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5		C	MET/THR,MET/THR	0,4160		0,0,2080	25.0	33.0	30.0		179,158	5.2	1.0	22		30	2,8432		0,2,4215	no	missense,missense	FAM19A5	NM_001082967.1,NM_015381.5	81,81	0,2,6295	TT,TC,CC		0.0237,0.0,0.0159	probably-damaging,probably-damaging	60/133,53/126	49042475	2,12592	2080	4217	6297	SO:0001583	missense	25817	4	120748	35				g.chr22:49042475C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.179C>T	chr22.hg19:g.49042475C>T	ENSP00000383933:p.Thr60Met	0					FAM19A5_ENST00000358295.5_Missense_Mutation_p.T53M|FAM19A5_ENST00000473898.1_Intron	p.T60M	NM_001082967.1	NP_001076436.1	1	2	3	2.015224	Q7Z5A7	F19A5_HUMAN		2	312	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	1	1	hg19	c.179C>T	CCDS46728.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144798	0.77888	0.0	2.37E-4	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	T	0.66636	0.2809	L	0.56769	1.78	0.80722	D	1	P;D	0.60160	0.904;0.987	B;P	0.52758	0.226;0.708	T	0.71224	-0.4656	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	53;60	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	60;60;53	.	ENSP00000336812:T60M	T	+	2	0	0	FAM19A5	47428911	47428911	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_015381			31	30		159	155	1		1	0		0	0	35	0		1	9.999272e-01	0	1	0	79	0	31	159
BRD1	23774	broad.mit.edu	37	22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	821					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTTACCTGCGTCCAGGCGC	0.657																																						ENST00000216267.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2461-2463)Gca>Aca		bromodomain containing 1							48.0	52.0	51.0					22																	50181041		2203	4300	6503	SO:0001583	missense	23774	0	0					g.chr22:50181041C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2461G>A	chr22.hg19:g.50181041C>T	ENSP00000216267:p.Ala821Thr	0					BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T	p.A821T	NM_014577.1	NP_055392.1	1	2	3	2.015224	O95696	BRD1_HUMAN		7	2947	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	1	1	hg19	c.2461G>A	CCDS14080.1	1	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218460	0.09810	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.39	3.26	0.37387	5.39	3.26	0.37387	.	0.255709	0.44285	N	0.000467	T	0.03871	0.0109	N	0.00170	-1.935	0.80722	D	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	0.25916	-1.0118	10	0.09338	T	0.73	.	9.0563	0.36408	0.0:0.1532:0.0:0.8468	.	952;547;821;952	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	821;821;952;509;547;412	ENSP00000216267:A821T;ENSP00000384076:A821T;ENSP00000385858:A952T;ENSP00000437514:A509T;ENSP00000345886:A547T	ENSP00000216267:A821T	A	-	1	0	0	BRD1	48567045	48567045	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	4.009000	0.57110	0.365000	0.24400	-0.302000	0.09304	GCA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_014577			61	60		270	268	1		1	1		0	0	70	0		1	9.999768e-01	0	18	0	54	0	61	270
BRD1	23774	broad.mit.edu	37	22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	726					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTGAGGTCGAGCATGTCC	0.592																																						ENST00000216267.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2176-2178)Gac>Aac		bromodomain containing 1							64.0	67.0	66.0					22																	50187865		2203	4300	6503	SO:0001583	missense	23774	0	0					g.chr22:50187865C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2176G>A	chr22.hg19:g.50187865C>T	ENSP00000216267:p.Asp726Asn	0					BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N	p.D726N	NM_014577.1	NP_055392.1	1	2	3	2.015224	O95696	BRD1_HUMAN		6	2662	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	1	1	hg19	c.2176G>A	CCDS14080.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792126	0.90453	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30981	2.38;2.38;2.18;1.95;1.51;1.6	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.988;0.999	T	0.65578	-0.6134	10	0.49607	T	0.09	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	726;321;726;726	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	N	726;726;726;726;414;321;186	ENSP00000216267:D726N;ENSP00000384076:D726N;ENSP00000385858:D726N;ENSP00000410042:D726N;ENSP00000437514:D414N;ENSP00000345886:D321N	ENSP00000216267:D726N	D	-	1	0	0	BRD1	48573869	48573869	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.591000	0.82666	2.524000	0.85096	0.655000	0.94253	GAC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_014577			71	69		353	349	1		1	1		0	0	99	0		1	9.995031e-01	0	14	0	44	0	71	353
BRD1	23774	broad.mit.edu	37	22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	656					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGATCGCGCAGCCTCAC	0.577																																						ENST00000216267.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1966-1968)cGc>cAc		bromodomain containing 1							74.0	66.0	69.0					22																	50191584		2203	4300	6503	SO:0001583	missense	23774	0	0					g.chr22:50191584C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1967G>A	chr22.hg19:g.50191584C>T	ENSP00000216267:p.Arg656His	0					BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H	p.R656H	NM_014577.1	NP_055392.1	1	2	3	2.015224	O95696	BRD1_HUMAN		5	2453	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	1	1	hg19	c.1967G>A	CCDS14080.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.29	5.29	0.74685	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	P;D;P;D	0.67900	0.895;0.954;0.756;0.951	T	0.52563	-0.8559	10	0.66056	D	0.02	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	656;251;656;656	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	H	656;656;656;656;344;251;116	ENSP00000216267:R656H;ENSP00000384076:R656H;ENSP00000385858:R656H;ENSP00000410042:R656H;ENSP00000437514:R344H;ENSP00000345886:R251H	ENSP00000216267:R656H	R	-	2	0	0	BRD1	48577588	48577588	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_014577			64	61		240	234	1		1	1		0	0	55	0		1	9.999924e-01	0	16	0	52	0	64	240
ZBED4	9889	broad.mit.edu	37	22	50277250	50277250	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.5	+	0	417					NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGGGGCACAAATGAGCACTTG	0.373																																						ENST00000216268.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				44								zinc finger, BED-type containing 4																																						9889	0	0					g.chr22:50277250A>T	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.-61A>T	chr22.hg19:g.50277250A>T		0							NM_014838.2	NP_055653.2	1	2	3	2.015224	O75132	ZBED4_HUMAN		0	417	+		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)	B2RZH1|Q1ECU0|Q9UGG8	Translation_Start_Site	SNP	ENST00000216268.5	0	1	hg19		CCDS33677.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_014838			25	25		109	109	0		1	1		0	0	30	0		9.999999e-01	9.746529e-01	0	10	0	19	0	25	109
ZBED4	9889	broad.mit.edu	37	22	50278993	50278993	+	Silent	SNP	G	G	A	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	561						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AAAAGACCTCGAAGCTGTGGA	0.463																																						ENST00000216268.5	1.000000	0.150000	3.800000e-01	2.000000e-01	0.270000	0.342526	0.270000	0.260000																										0				44						c.(1681-1683)tcG>tcA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	72.0	79.0	77.0		1683	-8.3	0.7	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/1172	50278993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9889	1	121410	40				g.chr22:50278993G>A	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.1683G>A	chr22.hg19:g.50278993G>A		0						p.S561S	NM_014838.2	NP_055653.2	1	2	3	2.015224	O75132	ZBED4_HUMAN		2	2160	+		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)	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	1	1	hg19	c.1683G>A	CCDS33677.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.129278	1	0.170000	NM_014838			15	14		677	668	0		1	0		0	0	112	0		9.998565e-01	1.864463e-01	0	0	0	34	0	15	677
ZBED4	9889	broad.mit.edu	37	22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1109						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CTGAAGAAGGCGTCCTGGCCG	0.582																																						ENST00000216268.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3325-3327)gCg>gTg		zinc finger, BED-type containing 4							61.0	53.0	56.0					22																	50280636		2203	4300	6503	SO:0001583	missense	9889	0	0					g.chr22:50280636C>T	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.3326C>T	chr22.hg19:g.50280636C>T	ENSP00000216268:p.Ala1109Val	0						p.A1109V	NM_014838.2	NP_055653.2	1	2	3	2.015224	O75132	ZBED4_HUMAN		2	3803	+		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)	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	1	1	hg19	c.3326C>T	CCDS33677.1	1	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106658	0.06924	.	.	ENSG00000100426	ENST00000216268	T	0.25250	1.81	5.17	4.15	0.48705	5.17	4.15	0.48705	HAT dimerisation (1);Ribonuclease H-like (1);	0.666618	0.15432	N	0.262679	T	0.17874	0.0429	N	0.21142	0.635	0.09310	N	1	B	0.27882	0.192	B	0.19946	0.027	T	0.11991	-1.0565	10	0.35671	T	0.21	-4.1212	13.5439	0.61690	0.0:0.9256:0.0:0.0744	.	1109	O75132	ZBED4_HUMAN	V	1109	ENSP00000216268:A1109V	ENSP00000216268:A1109V	A	+	2	0	0	ZBED4	48666640	48666640	1.000000	0.71417	0.002000	0.10522	0.207000	0.24258	5.419000	0.66435	1.416000	0.47057	0.650000	0.86243	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	1	0	0		2	2	2	0		0	0	52		52	50	1	2.060000	-2.819204	1	0.170000	NM_014838			59	58		253	247	1		1	1		0	0	52	0		1	9.707347e-01	0	8	0	18	0	59	253
ALG12	79087	broad.mit.edu	37	22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T	rs200241636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	213					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGACGGCGTGGCGAAGG	0.522													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000330817.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999569	0.990000	1.000000																										0				12						c.(637-639)Gcc>Acc		ALG12, alpha-1,6-mannosyltransferase							71.0	71.0	71.0					22																	50303569		2203	4300	6503	SO:0001583	missense	79087	12	121410	39				g.chr22:50303569C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.637G>A	chr22.hg19:g.50303569C>T	ENSP00000333813:p.Ala213Thr	0						p.A213T	NM_024105.3	NP_077010.1	1	2	3	2.015224	Q9BV10	ALG12_HUMAN		5	910	-		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)	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	1	1	hg19	c.637G>A	CCDS14081.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.575536	0.86645	.	.	ENSG00000182858	ENST00000330817	T	0.62788	0.0	4.43	4.43	0.53597	4.43	4.43	0.53597	.	0.048778	0.85682	D	0.000000	T	0.78400	0.4277	M	0.82056	2.57	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80986	-0.1137	10	0.49607	T	0.09	-10.9563	18.0056	0.89208	0.0:1.0:0.0:0.0	.	213	Q9BV10	ALG12_HUMAN	T	213	ENSP00000333813:A213T	ENSP00000333813:A213T	A	-	1	0	0	ALG12	48689573	48689573	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	4.036000	0.57304	2.425000	0.82216	0.644000	0.83932	GCC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.222011	1	0.170000	NM_024105			38	38		268	261	1		1	1		0	0	48	0		1	9.993054e-01	0	23	0	56	0	38	268
ALG12	79087	broad.mit.edu	37	22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	76					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGAGAACACTGCGATCACC	0.572																																						ENST00000330817.6	1.000000	0.790000	1	9.300000e-01	0.990000	0.975229	0.990000	1.000000																										0				12						c.(226-228)Gtg>Ttg		ALG12, alpha-1,6-mannosyltransferase							89.0	81.0	84.0					22																	50307102		2203	4300	6503	SO:0001583	missense	79087	0	0					g.chr22:50307102C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.226G>T	chr22.hg19:g.50307102C>A	ENSP00000333813:p.Val76Leu	0						p.V76L	NM_024105.3	NP_077010.1	1	2	3	2.015224	Q9BV10	ALG12_HUMAN		3	499	-		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)	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	1	1	hg19	c.226G>T	CCDS14081.1	1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944639	0.02304	.	.	ENSG00000182858	ENST00000330817	D	0.81996	-1.56	5.34	4.32	0.51571	5.34	4.32	0.51571	.	0.435749	0.25341	N	0.031376	T	0.65080	0.2657	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46428	-0.9192	10	0.10377	T	0.69	-10.6288	9.9025	0.41355	0.138:0.7893:0.0:0.0727	.	76	Q9BV10	ALG12_HUMAN	L	76	ENSP00000333813:V76L	ENSP00000333813:V76L	V	-	1	0	0	ALG12	48693106	48693106	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	1.792000	0.38754	1.259000	0.44117	-0.216000	0.12614	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_024105			36	36		356	349	0		1	1		0	0	83	0		1	9.970568e-01	0	8	0	82	0	36	356
PIM3	415116	broad.mit.edu	37	22	50356512	50356512	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTCTCCAGGTGCGTGGT	0.677																																						ENST00000360612.4	1.000000	0.270000	7.100000e-01	3.700000e-01	0.500000	0.555275	0.500000	0.470000																										0										c.(790-792)ccA>ccG		Pim-3 proto-oncogene, serine/threonine kinase							37.0	39.0	38.0					22																	50356512		2203	4300	6503	SO:0001630	splice_region_variant	415116	1	121302	31				g.chr22:50356512A>G	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.793+1A>G	chr22.hg19:g.50356512A>G		0						p.P264P	NM_001001852.3	NP_001001852.2	1	2	3	2.015224	Q86V86	PIM3_HUMAN		5	1227	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Splice_Site	SNP	ENST00000360612.4	1	0	hg19	c.792A>G	CCDS33678.1	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	1	0	1		2	2	2	0		0	0	43		43	40	1	2.060000	-14.456440	1	0.170000	NM_001001852	Silent		13	13		308	302	0		1	1		0	0	43	0		9.995018e-01	9.999419e-01	0	10	0	416	0	13	308
IL17REL	400935	broad.mit.edu	37	22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	67										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTGCCGGTGGGAGGCC	0.706													G|||	12	0.00239617	0.0091	0.0	5008	,	,		17096	0.0		0.0	False		,,,				2504	0.0					ENST00000389983.2	1.000000	0.350000	1	5.200000e-01	0.750000	0.756006	0.750000	1.000000																										0				6						c.(199-201)Cgg>Tgg		interleukin 17 receptor E-like			TRP/ARG	23,4373		0,23,2175	15.0	18.0	17.0		199	1.1	0.1	22	dbSNP_134	17	0,8582		0,0,4291	yes	missense	IL17REL	NM_001001694.2	101	0,23,6466	AA,AG,GG		0.0,0.5232,0.1772	probably-damaging	67/337	50439203	23,12955	2198	4291	6489	SO:0001583	missense	400935	64	121092	43				g.chr22:50439203G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.199C>T	chr22.hg19:g.50439203G>A	ENSP00000374633:p.Arg67Trp	0					IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	p.R67W	NM_001001694.2	NP_001001694.2	1	2	3	2.015224	Q6ZVW7	I17EL_HUMAN		5	463	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	1	1	hg19	c.199C>T	CCDS33679.1	0	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	16.01	3.000076	0.54147	0.005232	0.0	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16073	2.37;2.37	3.36	1.11	0.20524	3.36	1.11	0.20524	.	0.440966	0.17529	U	0.170950	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.53861	0.736	T	0.06338	-1.0832	10	0.59425	D	0.04	.	3.456	0.07515	0.141:0.0:0.6043:0.2547	.	67	Q6ZVW7	I17EL_HUMAN	W	67	ENSP00000374633:R67W;ENSP00000342520:R67W	ENSP00000342520:R67W	R	-	1	2	2	IL17REL	48781330	48781330	0.054000	0.20591	0.119000	0.21687	0.081000	0.17604	1.066000	0.30604	0.495000	0.27882	0.651000	0.88453	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	0	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-8.347727	1	0.170000	NM_001001694			8	8		127	126	0		1			0	0	25	0		9.897563e-01	0	0	0	0	0	0	8	127
IL17REL	400935	broad.mit.edu	37	22	50439631	50439631	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200685715		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439631G>A	ENST00000389983.2	-	0	253				IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like											endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACACGGGGCGTGGCCGGCAG	0.627																																						ENST00000389983.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.987104	0.990000	1.000000																										0				6								interleukin 17 receptor E-like							27.0	24.0	25.0					22																	50439631		2190	4292	6482			400935	1	120168	28				g.chr22:50439631G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.-12C>T	chr22.hg19:g.50439631G>A		0					IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame		NM_001001694.2	NP_001001694.2	1	2	3	2.015224	Q6ZVW7	I17EL_HUMAN		0	253	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	A6NCN4|A6PVC1	Translation_Start_Site	SNP	ENST00000389983.2	0	1	hg19		CCDS33679.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-14.531190	1	0.170000	NM_001001694			7	6		40	40	0		1			0	0	11	0		9.821044e-01	0	0	0	0	0	0	7	40
TTLL8	164714	broad.mit.edu	37	22	50471771	50471771	+	Silent	SNP	C	C	T	rs184737868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	397	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAGCAGCGGCGTCTCGATGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		21629	0.002		0.0	False		,,,				2504	0.001					ENST00000266182.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999808	0.990000	1.000000																										0				12						c.(1141-1143)acG>acA		tubulin tyrosine ligase-like family, member 8		C		0,4314		0,0,2157	51.0	59.0	56.0		1173	-4.8	0.6	22		56	1,8525		0,1,4262	no	coding-synonymous	TTLL8	XM_003403494.1		0,1,6419	TT,TC,CC		0.0117,0.0,0.0078		391/841	50471771	1,12839	2157	4263	6420	SO:0001819	synonymous_variant	164714	16	121076	40				g.chr22:50471771C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1143G>A	chr22.hg19:g.50471771C>T		0					TTLL8_ENST00000440475.1_Silent_p.T361T	p.T381T			1	2	3	2.015224	A6PVC2	TTLL8_HUMAN		10	1142	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	B5MDV0	Silent	SNP	ENST00000266182.6	1	1	hg19	c.1143G>A		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	30		30	28	1	2.060000	-20.000000	1	0.170000	NM_001080447			14	14		53	52	1		1			0	0	30	0		9.998488e-01	0	0	0	0	0	0	14	53
TTLL8	164714	broad.mit.edu	37	22	50479664	50479664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	318	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAACCTTCTGGATTTTGAAGA	0.552																																						ENST00000266182.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(871-873)atC>atA		tubulin tyrosine ligase-like family, member 8							149.0	160.0	156.0					22																	50479664		1955	4149	6104	SO:0001819	synonymous_variant	164714	1	120890	31				g.chr22:50479664G>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.873C>A	chr22.hg19:g.50479664G>T		0					TTLL8_ENST00000440475.1_Intron	p.I291I			1	2	3	2.015224	A6PVC2	TTLL8_HUMAN		8	872	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	B5MDV0	Silent	SNP	ENST00000266182.6	1	1	hg19	c.873C>A		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_001080447			120	119		534	525	1		1			0	0	150	0		1	0	0	0	0	0	0	120	534
TTLL8	164714	broad.mit.edu	37	22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	263	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AAGCTGCCCCGGGAGGCCCCT	0.632																																						ENST00000266182.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999628	0.990000	1.000000																										0				12						c.(679-681)cCg>cTg		tubulin tyrosine ligase-like family, member 8							37.0	39.0	38.0					22																	50480200		2093	4217	6310	SO:0001583	missense	164714	2	121028	31				g.chr22:50480200G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.680C>T	chr22.hg19:g.50480200G>A	ENSP00000266182:p.Pro227Leu	0					TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L	p.P227L			1	2	3	2.015224	A6PVC2	TTLL8_HUMAN		7	679	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	1	1	hg19	c.680C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618531	0.46736	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.54479	3.53;0.57;0.57	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.667620	0.12772	N	0.440413	T	0.60418	0.2267	L	0.61036	1.89	0.09310	N	0.999999	D	0.71674	0.998	P	0.49597	0.616	T	0.55405	-0.8146	10	0.37606	T	0.19	.	16.4517	0.83993	0.0:0.0:1.0:0.0	.	227	B5MDV0	.	L	227;227;263	ENSP00000266182:P227L;ENSP00000387509:P227L;ENSP00000392252:P263L	ENSP00000266182:P227L	P	-	2	0	0	TTLL8	48822327	48822327	0.859000	0.29813	0.005000	0.12908	0.006000	0.05464	1.942000	0.40243	2.406000	0.81754	0.484000	0.47621	CCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-3.280587	1	0.170000	NM_001080447			14	14		60	59	1		1			0	0	15	0		9.998398e-01	0	0	0	0	0	0	14	60
TTLL8	164714	broad.mit.edu	37	22	50493029	50493029	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50493029A>C	ENST00000266182.6	-	1	26	c.27T>G	c.(25-27)acT>acG	p.T9T	TTLL8_ENST00000440475.1_Silent_p.T9T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	0					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		agtacctggaagtctgtttcc	0.587																																						ENST00000266182.6	1.000000	0.820000	1	9.900000e-01	0.990000	0.989882	0.990000	1.000000																										0				12						c.(25-27)acT>acG		tubulin tyrosine ligase-like family, member 8							49.0	53.0	52.0					22																	50493029		1927	4127	6054	SO:0001819	synonymous_variant	164714	0	0					g.chr22:50493029A>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.27T>G	chr22.hg19:g.50493029A>C		0					TTLL8_ENST00000440475.1_Silent_p.T9T	p.T9T			1	2	3	2.015224	A6PVC2	TTLL8_HUMAN		1	26	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	B5MDV0	Silent	SNP	ENST00000266182.6	0	1	hg19	c.27T>G		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-14.512020	1	0.170000	NM_001080447			7	7		37	36	1		1			0	0	13	0		9.822264e-01	0	0	0	0	0	0	7	37
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					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)			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)		GAACCCTAAAGGAAGGAAGAA	0.398																																						ENST00000262794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(847-849)aaG>aaT		Mov10 RISC complex RNA helicase like 1							118.0	109.0	112.0					22																	50552182		2203	4300	6503	SO:0001583	missense	54456	0	0					g.chr22:50552182G>T	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.849G>T	chr22.hg19:g.50552182G>T	ENSP00000262794:p.Lys283Asn	0					MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N	p.K283N	NM_018995.2	NP_061868.1	1	2	3	2.015224	Q9BXT6	M10L1_HUMAN		6	932	+		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)	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	1	1	hg19	c.849G>T	CCDS14084.1	1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	2	MOV10L1	48894309	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.020468	1	0.170000	NM_018995			75	71		292	281	1		1			0	0	86	0		1	0	0	0	0	0	0	75	292
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K	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																																						ENST00000262794.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E599K(1)	large_intestine(1)	67						c.(1795-1797)Gaa>Aaa		Mov10 RISC complex RNA helicase like 1							123.0	102.0	109.0					22																	50564678		2203	4300	6503	SO:0001583	missense	54456	0	0					g.chr22:50564678G>A	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	chr22.hg19:g.50564678G>A	ENSP00000262794:p.Glu599Lys	0					MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K	p.E599K	NM_018995.2	NP_061868.1	1	2	3	2.015224	Q9BXT6	M10L1_HUMAN		12	1878	+		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)	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	1	1	hg19	c.1795G>A	CCDS14084.1	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	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	0	MOV10L1	48906805	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	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.099200	1	0.170000	NM_018995			48	46		225	222	1		1			0	0	54	0		1	0	0	0	0	0	0	48	225
PANX2	56666	broad.mit.edu	37	22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	139					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687																																						ENST00000395842.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.986069	0.990000	1.000000																										0				7						c.(415-417)Gcg>Acg		pannexin 2							36.0	28.0	31.0					22																	50615556		2195	4298	6493	SO:0001583	missense	56666	0	0					g.chr22:50615556G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.415G>A	chr22.hg19:g.50615556G>A	ENSP00000379183:p.Ala139Thr	0					PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	p.A139T	NM_052839.3	NP_443071.2	1	2	3	2.015224	Q96RD6	PANX2_HUMAN		2	415	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	0	1	hg19	c.415G>A	CCDS14085.2	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465657	0.84425	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.29655	1.56;1.56	4.54	3.5	0.40072	4.54	3.5	0.40072	.	0.064589	0.64402	D	0.000008	T	0.22859	0.0552	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.42757	0.597;0.789	B;B	0.37015	0.089;0.239	T	0.08086	-1.0739	10	0.54805	T	0.06	-13.0858	12.2486	0.54585	0.0843:0.0:0.9157:0.0	.	139;139	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	139	ENSP00000159647:A139T;ENSP00000379183:A139T	ENSP00000159647:A139T	A	+	1	0	0	PANX2	48957683	48957683	1.000000	0.71417	0.880000	0.34516	0.988000	0.76386	7.571000	0.82399	2.251000	0.74343	0.555000	0.69702	GCG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.841260	1	0.170000	NM_052839			13	13		99	97	1		1	0		0	0	16	0		9.995965e-01	1.206142e-01	0	0	0	5	0	13	99
TRABD	80305	broad.mit.edu	37	22	50635949	50635949	+	Silent	SNP	C	C	T	rs139568052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000303434.4	+	7	722	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|TRABD_ENST00000380909.4_Silent_p.I201I|RP3-402G11.26_ENST00000608025.1_RNA	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16451	0.0		0.0	False		,,,				2504	0.0					ENST00000303434.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(601-603)atC>atT		TraB domain containing							76.0	74.0	75.0					22																	50635949		2203	4300	6503	SO:0001819	synonymous_variant	80305	1	121408	35				g.chr22:50635949C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.603C>T	chr22.hg19:g.50635949C>T		0					TRABD_ENST00000395829.1_Silent_p.I201I|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I	p.I201I	NM_025204.2	NP_079480.2	1	2	3	2.015224	Q9H4I3	TRABD_HUMAN		7	722	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	1	1	hg19	c.603C>T	CCDS14086.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	1	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-3.638607	1	0.170000	NM_025204			93	88		354	342	1		1	1		0	0	80	0		1	1	0	67	0	127	0	93	354
SELO	83642	broad.mit.edu	37	22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		315													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380903.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(943-945)aCg>aTg									32.0	40.0	37.0					22																	50648614		2138	4225	6363	SO:0001583	missense	0	1	121078	25				g.chr22:50648614C>T																												ENST00000380903.2:c.944C>T	chr22.hg19:g.50648614C>T	ENSP00000370288:p.Thr315Met	0		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	p.T315M	NM_031454.1	NP_113642.1	1	2	3	2.015224	Q9BVL4	SELO_HUMAN		4	1002	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	1	0	hg19	c.944C>T	CCDS43034.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260669	0.59431	.	.	ENSG00000073169	ENST00000380903	T	0.41758	0.99	5.19	3.05	0.35203	5.19	3.05	0.35203	.	0.211356	0.49305	D	0.000146	T	0.37839	0.1018	L	0.33245	0.995	0.48185	D	0.999602	P;P	0.52577	0.95;0.954	P;B	0.49361	0.608;0.36	T	0.07214	-1.0784	10	0.37606	T	0.19	.	10.5425	0.45041	0.0:0.7939:0.1337:0.0724	.	315;158	Q9BVL4;Q6ICA4	SELO_HUMAN;.	M	315	ENSP00000370288:T315M	ENSP00000370288:T315M	T	+	2	0	0	RP3-402G11.5	48990741	48990741	0.946000	0.32159	0.618000	0.29105	0.700000	0.40528	1.945000	0.40273	0.721000	0.32231	0.561000	0.74099	ACG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				61	58		201	196	1		1	1		0	0	42	0		1	1	0	36	0	111	0	61	201
TUBGCP6	85378	broad.mit.edu	37	22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000248846.5	-	8	1794	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	564					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)			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)		CACCTACCTCGGAAGCTGAGG	0.617																																						ENST00000248846.5	1.000000	0.260000	7.100000e-01	3.600000e-01	0.490000	0.545808	0.490000	0.460000																										0				45						c.(1690-1692)Cga>Tga		tubulin, gamma complex associated protein 6							77.0	68.0	71.0					22																	50664719		2203	4300	6503	SO:0001587	stop_gained	85378	0	0					g.chr22:50664719G>A	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.1690C>T	chr22.hg19:g.50664719G>A	ENSP00000248846:p.Arg564*	0					TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*|TUBGCP6_ENST00000491449.1_5'Flank	p.R564*			1	2	3	2.015224	Q96RT7	GCP6_HUMAN		8	1794	-		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)	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	0	1	hg19	c.1690C>T	CCDS14087.1	0	.	.	.	.	.	.	.	.	.	.	G	40	8.463773	0.98822	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.32	1.49	0.22878	5.32	1.49	0.22878	.	0.157011	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9083	0.63850	0.0:0.0:0.3878:0.6122	.	.	.	.	X	564	.	ENSP00000248846:R564X	R	-	1	2	2	TUBGCP6	49006846	49006846	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.718000	0.47236	0.313000	0.23062	-0.397000	0.06425	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	1		2	2	2	0		0	0	46		46	43	1	2.060000	-13.267290	1	0.170000	NM_020461			12	12		292	287	0		1	0		0	0	46	0		9.990758e-01	3.023292e-01	0	0	0	26	0	12	292
TUBGCP6	85378	broad.mit.edu	37	22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000248846.5	-	3	1194	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	364					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)			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)		GTGGCAGACACGACCCCAATC	0.642																																						ENST00000248846.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999726	0.990000	1.000000																										0				45						c.(1090-1092)Gtg>Atg		tubulin, gamma complex associated protein 6							110.0	58.0	76.0					22																	50671771		2203	4300	6503	SO:0001583	missense	85378	0	0					g.chr22:50671771C>T	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.1090G>A	chr22.hg19:g.50671771C>T	ENSP00000248846:p.Val364Met	0					TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M	p.V364M			1	2	3	2.015224	Q96RT7	GCP6_HUMAN		3	1194	-		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)	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	1	1	hg19	c.1090G>A	CCDS14087.1	1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379591	0.61845	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07908	3.15;3.15	5.69	3.55	0.40652	5.69	3.55	0.40652	.	0.603759	0.17925	N	0.157367	T	0.08670	0.0215	L	0.53249	1.67	0.09310	N	1	P;P	0.49862	0.929;0.929	B;B	0.37198	0.243;0.243	T	0.17167	-1.0378	10	0.48119	T	0.1	.	11.0148	0.47682	0.0:0.7994:0.1299:0.0707	.	364;364	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	364	ENSP00000248846:V364M;ENSP00000397387:V364M	ENSP00000248846:V364M	V	-	1	0	0	TUBGCP6	49013898	49013898	0.836000	0.29430	0.004000	0.12327	0.773000	0.43773	4.750000	0.62162	0.715000	0.32103	0.561000	0.74099	GTG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000	NM_020461			23	23		131	131	1		1	1		0	0	31	0		9.999997e-01	8.715726e-01	0	5	0	18	0	23	131
TUBGCP6	85378	broad.mit.edu	37	22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000248846.5	-	1	772	c.668C>T	c.(667-669)aCt>aTt	p.T223I	HDAC10_ENST00000498366.1_5'Flank|MAPK12_ENST00000497036.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	223					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)			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)		CATGTCATAAGTGCGGCTGTG	0.577																																						ENST00000248846.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				45						c.(667-669)aCt>aTt		tubulin, gamma complex associated protein 6							43.0	46.0	45.0					22																	50682221		2203	4300	6503	SO:0001583	missense	85378	0	0					g.chr22:50682221G>A	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.668C>T	chr22.hg19:g.50682221G>A	ENSP00000248846:p.Thr223Ile	0					TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank	p.T223I			1	2	3	2.015224	Q96RT7	GCP6_HUMAN		1	772	-		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)	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	1	1	hg19	c.668C>T	CCDS14087.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564894	0.86439	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.19806	2.46;2.12	4.17	4.17	0.49024	4.17	4.17	0.49024	.	0.066129	0.64402	D	0.000014	T	0.44561	0.1299	M	0.69823	2.125	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.66497	0.919;0.918;0.944	T	0.50048	-0.8873	10	0.72032	D	0.01	.	16.2595	0.82533	0.0:0.0:1.0:0.0	.	223;223;223	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	223	ENSP00000248846:T223I;ENSP00000397387:T223I	ENSP00000248846:T223I	T	-	2	0	0	TUBGCP6	49024348	49024348	1.000000	0.71417	0.848000	0.33437	0.725000	0.41563	9.236000	0.95360	2.150000	0.67090	0.555000	0.69702	ACT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_020461			39	39		225	214	1		1	1		0	0	34	0		1	9.559351e-01	0	4	0	28	0	39	225
MAPK12	6300	broad.mit.edu	37	22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCAGGTTGCCGGGCTTCAG	0.652																																						ENST00000215659.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(469-471)gGc>gAc		mitogen-activated protein kinase 12							76.0	81.0	80.0					22																	50695062		2203	4300	6503	SO:0001583	missense	6300	0	0					g.chr22:50695062C>T	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.470G>A	chr22.hg19:g.50695062C>T	ENSP00000215659:p.Gly157Asp	0					MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	p.G157D	NM_002969.3	NP_002960.2	1	2	3	2.015224	P53778	MK12_HUMAN		6	785	-		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)	Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	1	1	hg19	c.470G>A	CCDS14089.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370771	0.82573	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.12879	2.64;2.64	4.3	4.3	0.51218	4.3	4.3	0.51218	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);	0.232365	0.21899	U	0.067461	T	0.20618	0.0496	N	0.13272	0.32	0.80722	D	1	D;D;D	0.60575	0.971;0.988;0.964	P;P;P	0.62885	0.908;0.889;0.851	T	0.17410	-1.0370	10	0.87932	D	0	-29.3733	16.9691	0.86294	0.0:1.0:0.0:0.0	.	67;157;147	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	D	147;67;157	ENSP00000379126:G67D;ENSP00000215659:G157D	ENSP00000215659:G157D	G	-	2	0	0	MAPK12	49037189	49037189	0.593000	0.26840	0.986000	0.45419	0.787000	0.44495	4.173000	0.58249	2.241000	0.73720	0.549000	0.68633	GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	1	0	1		2	2	2	0		0	0	93		93	90	1	2.060000	-20.000000	1	0.170000	NM_002969			104	102		468	465	1		1	1		0	0	93	0		1	9.998664e-01	0	22	0	38	0	104	468
MAPK11	5600	broad.mit.edu	37	22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CTCGTTCACAGCCACGTTGCT	0.706																																					GBM(9;634 739 50668)	ENST00000330651.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				6						c.(469-471)gCt>gAt		mitogen-activated protein kinase 11	Regorafenib(DB08896)						35.0	34.0	35.0					22																	50705581		2200	4296	6496	SO:0001583	missense	5600	0	0					g.chr22:50705581G>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.470C>A	chr22.hg19:g.50705581G>T	ENSP00000333685:p.Ala157Asp	0					MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	p.A157D	NM_002751.5	NP_002742.3	1	2	3	2.015224	Q15759	MK11_HUMAN		6	570	-		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)	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	1	1	hg19	c.470C>A	CCDS14090.1	1	.	.	.	.	.	.	.	.	.	.	g	32	5.128724	0.94473	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.65364	-0.15;-0.15	4.84	3.8	0.43715	4.84	3.8	0.43715	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	U	0.000000	T	0.65015	0.2651	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.988;0.999	T	0.70015	-0.4988	10	0.72032	D	0.01	-12.0188	13.5162	0.61541	0.0:0.0:0.8421:0.1579	.	49;157	B7Z630;Q15759	.;MK11_HUMAN	D	157;49	ENSP00000333685:A157D;ENSP00000406921:A49D	ENSP00000333685:A157D	A	-	2	0	0	MAPK11	49047708	49047708	1.000000	0.71417	0.829000	0.32907	0.990000	0.78478	7.347000	0.79356	1.160000	0.42584	0.537000	0.68136	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000				23	22		109	105	1		1	1		0	0	14	0		9.999995e-01	9.694620e-01	0	8	0	22	0	23	109
PLXNB2	23654	broad.mit.edu	37	22	50719911	50719911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.R1180R			O15031	PLXB2_HUMAN	plexin B2	1180					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCCACTCGCGAGAGCCGA	0.687																																						ENST00000449103.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3538-3540)cgC>cgT		plexin B2							20.0	27.0	25.0					22																	50719911		2164	4250	6414	SO:0001819	synonymous_variant	23654	1	120828	28				g.chr22:50719911G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3540C>T	chr22.hg19:g.50719911G>A		0					PLXNB2_ENST00000359337.4_Silent_p.R1180R|PLXNB2_ENST00000496720.1_5'Flank	p.R1180R			1	2	3	2.015224	O15031	PLXB2_HUMAN		22	3680	-		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)	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	1	1	hg19	c.3540C>T	CCDS43035.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_012401			51	51		206	199	1		1	1	1	0	0	30	992		1	1	1	224	201	296	911	51	206
PLXNB2	23654	broad.mit.edu	37	22	50728054	50728054	+	Silent	SNP	G	G	A	rs369685421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATCTTGGCGTGCACCTTGT	0.652																																						ENST00000449103.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(958-960)caC>caT		plexin B2		G		0,3920		0,0,1960	43.0	52.0	49.0		960	-3.8	0.0	22		49	2,8322		0,2,4160	no	coding-synonymous	PLXNB2	NM_012401.3		0,2,6120	AA,AG,GG		0.024,0.0,0.0163		320/1839	50728054	2,12242	1960	4162	6122	SO:0001819	synonymous_variant	23654	13	120706	43				g.chr22:50728054G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.960C>T	chr22.hg19:g.50728054G>A		0					PLXNB2_ENST00000359337.4_Silent_p.H320H	p.H320H			1	2	3	2.015224	O15031	PLXB2_HUMAN		3	1100	-		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)	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	1	1	hg19	c.960C>T	CCDS43035.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_012401			80	78		358	351	1		1	1	1	0	0	64	298		1	1	1	10	49	146	331	80	358
PLXNB2	23654	broad.mit.edu	37	22	50728215	50728215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728215G>A	ENST00000449103.1	-	3	939	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W			O15031	PLXB2_HUMAN	plexin B2	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGGTCCCGGCACTGCAGG	0.652																																						ENST00000449103.1	1.000000	0.090000	4.000000e-01	1.500000e-01	0.240000	0.321200	0.240000	0.220000																										0				66						c.(799-801)Cgg>Tgg		plexin B2							40.0	44.0	43.0					22																	50728215		2059	4181	6240	SO:0001583	missense	23654	1	120860	34				g.chr22:50728215G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.799C>T	chr22.hg19:g.50728215G>A	ENSP00000409171:p.Arg267Trp	0					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W	p.R267W			1	2	3	2.015224	O15031	PLXB2_HUMAN		3	939	-		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)	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	0	1	hg19	c.799C>T	CCDS43035.1	0	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074264	0.36566	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.62	2.49	0.30216	4.62	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.274000	0.05777	N	0.608001	T	0.17323	0.0416	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.26573	-1.0099	10	0.66056	D	0.02	.	7.6582	0.28388	0.0801:0.0:0.5201:0.3998	.	267	O15031	PLXB2_HUMAN	W	267	ENSP00000409171:R267W;ENSP00000352288:R267W;ENSP00000392620:R267W	ENSP00000352288:R267W	R	-	1	2	2	PLXNB2	49070342	49070342	0.004000	0.15560	0.269000	0.24586	0.281000	0.26958	0.030000	0.13688	0.545000	0.28902	0.462000	0.41574	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-6.247759	1	0.170000	NM_012401			6	7		322	316	0		1	0	1	0	0	45	690		9.636501e-01	9.410419e-01	9.980434e-01	1	23	273	672	6	322
PLXNB2	23654	broad.mit.edu	37	22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2	223	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCGTCCTCGAAGGCCGCC	0.622																																						ENST00000449103.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(667-669)Gag>Aag		plexin B2							58.0	65.0	63.0					22																	50728347		2120	4231	6351	SO:0001583	missense	23654	7	121050	37				g.chr22:50728347C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.667G>A	chr22.hg19:g.50728347C>T	ENSP00000409171:p.Glu223Lys	0					PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K	p.E223K			1	2	3	2.015224	O15031	PLXB2_HUMAN		3	807	-		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)	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	1	1	hg19	c.667G>A	CCDS43035.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640349	0.47153	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04758	3.56;3.56;3.56	4.62	4.62	0.57501	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000026	T	0.04998	0.0134	L	0.37897	1.145	0.44149	D	0.996942	B	0.29162	0.235	B	0.25140	0.058	T	0.38394	-0.9663	10	0.08837	T	0.75	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	223	O15031	PLXB2_HUMAN	K	223	ENSP00000409171:E223K;ENSP00000352288:E223K;ENSP00000392620:E223K	ENSP00000352288:E223K	E	-	1	0	0	PLXNB2	49070474	49070474	0.950000	0.32346	0.991000	0.47740	0.926000	0.56050	2.585000	0.46111	2.391000	0.81399	0.462000	0.41574	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1		2	2	8	0		0	0	64		64	61	1	2.060000	-3.338927	1	0.170000	NM_012401			61	60		272	268	1		1	1	1	0	2	64	1545		1	1	1	105	311	150	1229	61	272
SBF1	6305	broad.mit.edu	37	22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000390679.3	-	22	2988	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R935Q			O95248	MTMR5_HUMAN	SET binding factor 1	935	GRAM.				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)			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)		GAAGATGACCCGGTACGTGGT	0.682																																						ENST00000390679.3	1.000000	0.290000	8.600000e-01	4.200000e-01	0.590000	0.627776	0.590000	0.540000																										0				43						c.(2803-2805)cGg>cAg		SET binding factor 1							26.0	34.0	31.0					22																	50899987		2024	4145	6169	SO:0001583	missense	6305	1	120896	25				g.chr22:50899987C>T	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.2804G>A	chr22.hg19:g.50899987C>T	ENSP00000375097:p.Arg935Gln	0					SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R935Q	p.R935Q			1	2	3	2.015224	O95248	MTMR5_HUMAN		22	2988	-		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)	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	1	1	hg19	c.2804G>A		0	.	.	.	.	.	.	.	.	.	.	C	35	5.423355	0.96111	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.06;-2.06	3.96	3.96	0.45880	3.96	3.96	0.45880	GRAM (2);	0.065333	0.64402	D	0.000018	D	0.92685	0.7675	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.99	D	0.94148	0.7403	10	0.87932	D	0	.	15.801	0.78453	0.0:1.0:0.0:0.0	.	935;936;935	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	935;936;945;935	ENSP00000370196:R935Q;ENSP00000252027:R936Q;ENSP00000375097:R935Q	ENSP00000336522:R945Q	R	-	2	0	0	SBF1	49246853	49246853	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.492000	0.66893	2.048000	0.60808	0.467000	0.42956	CGG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.103915	1	0.170000				10	9		205	200	0		1	0		0	0	41	0		9.966317e-01	5.731869e-01	0	1	0	38	0	10	205
SBF1	6305	broad.mit.edu	37	22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000390679.3	-	13	1529	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000380817.3_Missense_Mutation_p.E449K			O95248	MTMR5_HUMAN	SET binding factor 1	449					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)			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)		CTTGCCACCTCGTGGGCCACC	0.642																																						ENST00000390679.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1345-1347)Gag>Aag		SET binding factor 1							44.0	48.0	47.0					22																	50903334		2109	4210	6319	SO:0001583	missense	6305	0	0					g.chr22:50903334C>T	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.1345G>A	chr22.hg19:g.50903334C>T	ENSP00000375097:p.Glu449Lys	0					SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000380817.3_Missense_Mutation_p.E449K	p.E449K			1	2	3	2.015224	O95248	MTMR5_HUMAN		13	1529	-		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)	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	1	1	hg19	c.1345G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225242	0.39300	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	3.93	3.93	0.45458	3.93	3.93	0.45458	.	0.301834	0.30820	N	0.008819	T	0.80237	0.4586	L	0.53249	1.67	0.44447	D	0.997375	P;B;B	0.37612	0.602;0.414;0.414	B;B;B	0.29440	0.102;0.051;0.051	T	0.78984	-0.1988	10	0.07325	T	0.83	.	15.7463	0.77944	0.0:1.0:0.0:0.0	.	449;450;449	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	K	449;450;460;459;449	ENSP00000370196:E449K;ENSP00000252027:E450K;ENSP00000375097:E449K	ENSP00000336522:E459K	E	-	1	0	0	SBF1	49250200	49250200	0.980000	0.34600	0.970000	0.41538	0.971000	0.66376	2.869000	0.48444	2.038000	0.60285	0.591000	0.81541	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.164906	1	0.170000				49	49		254	251	1		1	1		0	0	58	0		1	9.999957e-01	0	30	0	68	0	49	254
SBF1	6305	broad.mit.edu	37	22	50904432	50904432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000390679.3	-	9	1153	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000380817.3_Silent_p.L323L			O95248	MTMR5_HUMAN	SET binding factor 1	323					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)			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)		GTGGCTCTGGCAAGGGTGGAA	0.612																																						ENST00000390679.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(967-969)ttG>ttA		SET binding factor 1							121.0	125.0	123.0					22																	50904432		2165	4277	6442	SO:0001819	synonymous_variant	6305	0	0					g.chr22:50904432C>T	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.969G>A	chr22.hg19:g.50904432C>T		0					SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000380817.3_Silent_p.L323L	p.L323L			1	2	3	2.015224	O95248	MTMR5_HUMAN		9	1153	-		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)	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	1	1	hg19	c.969G>A		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000				91	91		477	471	1		1	1		0	0	127	0		1	9.999491e-01	0	15	0	61	0	91	477
SBF1	6305	broad.mit.edu	37	22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000390679.3	-	5	656	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.E158*			O95248	MTMR5_HUMAN	SET binding factor 1	158	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)			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)		TTCAGGCCCTCCACGTGGATG	0.627																																						ENST00000390679.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(472-474)Gag>Tag		SET binding factor 1							95.0	103.0	100.0					22																	50905844		2160	4245	6405	SO:0001587	stop_gained	6305	0	0					g.chr22:50905844C>A	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.472G>T	chr22.hg19:g.50905844C>A	ENSP00000375097:p.Glu158*	0					SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.E158*	p.E158*			1	2	3	2.015224	O95248	MTMR5_HUMAN		5	656	-		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)	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	ENST00000390679.3	0	1	hg19	c.472G>T		1	.	.	.	.	.	.	.	.	.	.	C	39	7.469269	0.98302	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.570441	0.17223	N	0.182256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3763	0.55281	0.0:0.9154:0.0:0.0846	.	.	.	.	X	158;159;169;168;158	.	ENSP00000336522:E168X	E	-	1	0	0	SBF1	49252710	49252710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.532000	0.67154	2.467000	0.83353	0.561000	0.74099	GAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-3.601063	1	0.170000				140	137		520	516	1		1	1		0	0	104	0		1	9.999972e-01	0	7	0	62	0	140	520
ADM2	79924	broad.mit.edu	37	22	50921212	50921212	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000395738.2	+	2	619	c.327C>A	c.(325-327)ggC>ggA	p.G109G	ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	109					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGAGTGGGCTGTGTGCTGG	0.687																																						ENST00000395738.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				2						c.(325-327)ggC>ggA		adrenomedullin 2							8.0	10.0	10.0					22																	50921212		2072	4128	6200	SO:0001819	synonymous_variant	79924	0	0					g.chr22:50921212C>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.327C>A	chr22.hg19:g.50921212C>A		0					ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	1	2	3	2.015224	Q7Z4H4	ADM2_HUMAN		2	619	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Q3LFQ0	Silent	SNP	ENST00000395738.2	1	1	hg19	c.327C>A	CCDS33682.1	1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128692	0.56721	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	3.61	0.41365	4.62	3.61	0.41365	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.24873	N	0.992271	.	.	.	.	.	.	T	0.40232	-0.9574	5	0.87932	D	0	.	10.2761	0.43510	0.0:0.9014:0.0:0.0986	.	.	.	.	D	26	.	ENSP00000354955:A26D	A	+	2	0	0	ADM2	49268078	49268078	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	1.381000	0.34362	0.936000	0.37367	0.448000	0.29417	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_024866			22	22		110	109	0		1	0		0	0	22	0		9.999993e-01	2.764577e-01	0	1	0	5	0	22	110
LMF2	91289	broad.mit.edu	37	22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000474879.2	-	5	772	c.757G>A	c.(757-759)Gct>Act	p.A253T	NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.A228T|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	253						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAAAGCAGCCAAGCGCAGG	0.652																																						ENST00000474879.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999826	0.990000	1.000000																										0				10						c.(757-759)Gct>Act		lipase maturation factor 2							23.0	25.0	25.0					22																	50944481		2190	4289	6479	SO:0001583	missense	91289	0	0					g.chr22:50944481C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.757G>A	chr22.hg19:g.50944481C>T	ENSP00000424381:p.Ala253Thr	0					NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.A228T|NCAPH2_ENST00000420993.2_5'Flank	p.A253T	NM_033200.2	NP_149977.2	1	2	3	2.015224	Q9BU23	LMF2_HUMAN		5	772	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	0	1	hg19	c.757G>A	CCDS14093.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.815|4.815	0.151616|0.151616	0.09185|0.09185	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.77|4.77	0.0864|0.0864	0.14446|0.14446	4.77|4.77	0.0864|0.0864	0.14446|0.14446	.|.	1.011940|.	0.07905|.	N|.	0.973284|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.17369|.	T|.	0.5|.	-7.0581|-7.0581	1.5665|1.5665	0.02605|0.02605	0.3843:0.3235:0.1292:0.163|0.3843:0.3235:0.1292:0.163	.|.	253;228|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	T|D	253;253;228|259	ENSP00000370173:A253T;ENSP00000424381:A253T;ENSP00000216080:A228T|.	ENSP00000216080:A228T|.	A|G	-|-	1|2	0|0	0|0	LMF2|LMF2	49291347|49291347	49291347|49291347	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.189000|0.189000	0.23516|0.23516	0.424000|0.424000	0.21330|0.21330	-0.065000|-0.065000	0.13021|0.13021	0.650000|0.650000	0.86243|0.86243	GCT|GGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_033200			13	13		44	42	1		1	1		0	0	10	0		9.996753e-01	1	0	23	0	156	0	13	44
LMF2	91289	broad.mit.edu	37	22	50945279	50945279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000474879.2	-	2	295	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000380796.3_Silent_p.L94L|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Silent_p.L69L|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	94						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCTCAGCAGCAGGGCTCCC	0.667																																						ENST00000474879.2	1.000000	0.250000	1	4.500000e-01	0.740000	0.733025	0.740000	1.000000																										0				10						c.(280-282)Ctg>Ttg		lipase maturation factor 2							30.0	27.0	28.0					22																	50945279		2182	4290	6472	SO:0001819	synonymous_variant	91289	0	0					g.chr22:50945279G>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.280C>T	chr22.hg19:g.50945279G>A		0					NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.L94L|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Silent_p.L69L|NCAPH2_ENST00000420993.2_5'Flank	p.L94L	NM_033200.2	NP_149977.2	1	2	3	2.015224	Q9BU23	LMF2_HUMAN		2	295	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	0	1	hg19	c.280C>T	CCDS14093.2	0																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-8.372920	1	0.170000	NM_033200			4	4		68	67	0		1	1		0	0	17	0		8.890215e-01	9.454998e-01	0	9	0	87	0	4	68
NCAPH2	29781	broad.mit.edu	37	22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000420993.2	+	7	625	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000395701.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGCACAGCCGTCAGGGTGAG	0.627																																						ENST00000420993.2	1.000000	0.290000	8.000000e-01	4.000000e-01	0.560000	0.599929	0.560000	0.510000																										0				24						c.(502-504)cGt>cAt		non-SMC condensin II complex, subunit H2							47.0	52.0	50.0					22																	50956564		2203	4300	6503	SO:0001583	missense	29781	1	121412	33				g.chr22:50956564G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.503G>A	chr22.hg19:g.50956564G>A	ENSP00000410088:p.Arg168His	0					NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H	p.R168H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	1	2	3	2.015224	Q6IBW4	CNDH2_HUMAN		7	625	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	1	1	hg19	c.503G>A	CCDS14094.2	0	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	4.22	0.49857	5.23	4.22	0.49857	.	0.334684	0.31747	N	0.007121	T	0.48572	0.1507	L	0.43152	1.355	0.27283	N	0.958041	D;D;D;D	0.89917	1.0;0.992;0.993;0.997	P;P;P;P	0.61592	0.891;0.809;0.88;0.754	T	0.39057	-0.9632	9	0.15066	T	0.55	-4.0E-4	12.5423	0.56179	0.0813:0.0:0.9187:0.0	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	H	168;168;168;134;168	.	ENSP00000299821:R168H	R	+	2	0	0	NCAPH2	49303430	49303430	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.777000	0.47717	1.217000	0.43442	-0.379000	0.06801	CGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-12.997800	1	0.170000	NM_152299			11	11		238	236	0		1	1		0	0	39	0		9.983684e-01	8.528649e-01	0	10	0	67	0	11	238
KLHDC7B	113730	broad.mit.edu	37	22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662																																						ENST00000395676.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1333-1335)gCt>gAt		kelch domain containing 7B							67.0	70.0	69.0					22																	50987929		2200	4299	6499	SO:0001583	missense	113730	0	0					g.chr22:50987929C>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1334C>A	chr22.hg19:g.50987929C>A	ENSP00000379034:p.Ala445Asp	0					CTA-384D8.31_ENST00000434237.1_RNA	p.A445D	NM_138433.3	NP_612442.2	1	2	3	2.015224	Q96G42	KLD7B_HUMAN		1	1468	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		Missense_Mutation	SNP	ENST00000395676.2	1	1	hg19	c.1334C>A	CCDS14097.2	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490482	0.84962	.	.	ENSG00000130487	ENST00000395676	T	0.70631	-0.5	5.35	4.31	0.51392	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000917	D	0.83857	0.5345	M	0.80616	2.505	0.42561	D	0.993145	D	0.89917	1.0	D	0.85130	0.997	D	0.86384	0.1731	10	0.87932	D	0	.	13.6955	0.62578	0.0:0.844:0.156:0.0	.	445	Q96G42	KLD7B_HUMAN	D	445	ENSP00000379034:A445D	ENSP00000379034:A445D	A	+	2	0	0	KLHDC7B	49334795	49334795	1.000000	0.71417	0.885000	0.34714	0.981000	0.71138	4.626000	0.61269	1.234000	0.43709	0.491000	0.48974	GCT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	1	0	1		2	2	2	0		0	0	96		96	92	1	2.060000	-20.000000	1	0.170000	NM_138433			113	110		523	514	1		1	1		0	0	96	0		1	8.743551e-01	0	4	0	15	0	113	523
CPT1B	1375	broad.mit.edu	37	22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	585					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTCAGGCAGAACTTACCCCTG	0.607																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1753-1755)Ttc>Gtc		carnitine palmitoyltransferase 1B (muscle)							87.0	79.0	82.0					22																	51009709		2203	4300	6503	SO:0001583	missense	1375	0	0					g.chr22:51009709A>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1753T>G	chr22.hg19:g.51009709A>C	ENSP00000353945:p.Phe585Val	0					CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V	p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		15	1890	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	1	1	hg19	c.1753T>G	CCDS14098.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377009	0.82682	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.82	3.67	0.42095	5.82	3.67	0.42095	.	0.048406	0.85682	N	0.000000	D	0.92708	0.7682	M	0.77712	2.385	0.80722	D	1	B;D;D;D	0.89917	0.248;0.979;1.0;1.0	B;D;D;D	0.77004	0.064;0.94;0.989;0.984	D	0.91723	0.5390	10	0.87932	D	0	-29.2963	6.6287	0.22845	0.762:0.1573:0.0807:0.0	.	504;551;380;585	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	585;585;585;551;504;380;585	ENSP00000385486:F585V;ENSP00000312189:F585V;ENSP00000353945:F585V;ENSP00000409342:F551V;ENSP00000414713:F504V;ENSP00000410966:F380V;ENSP00000379011:F585V	ENSP00000312189:F585V	F	-	1	0	0	CPT1B	49356575	49356575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.868000	0.69605	1.002000	0.39104	0.459000	0.35465	TTC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_152246			73	69		229	225	0		1	1		0	0	46	0		1	9.507504e-01	0	7	0	11	0	73	229
CPT1B	1375	broad.mit.edu	37	22	51011411	51011411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CPT1B_ENST00000312108.7_Silent_p.A415A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.A415A|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	415					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGAAGAAAGCGGCACGCTCGA	0.592																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1243-1245)gcC>gcT		carnitine palmitoyltransferase 1B (muscle)							97.0	91.0	93.0					22																	51011411		2203	4300	6503	SO:0001819	synonymous_variant	1375	1	121412	30				g.chr22:51011411G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1245C>T	chr22.hg19:g.51011411G>A		0					CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000312108.7_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A	p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		11	1382	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	1	1	hg19	c.1245C>T	CCDS14098.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.480566	1	0.170000	NM_152246			130	129		485	477	1		1	1		0	0	119	0		1	8.279263e-01	0	7	0	7	0	130	485
CPT1B	1375	broad.mit.edu	37	22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	358					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTCCAGATCCTGAGGCTTGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1072-1074)caG>caT		carnitine palmitoyltransferase 1B (muscle)							53.0	52.0	53.0					22																	51012041		2203	4300	6503	SO:0001583	missense	1375	0	0					g.chr22:51012041C>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1074G>T	chr22.hg19:g.51012041C>A	ENSP00000353945:p.Gln358His	0					CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H	p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		10	1211	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	1	1	hg19	c.1074G>T	CCDS14098.1	1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245331	0.22796	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;T;T;D	0.89415	-2.51;-2.51;-2.51;-1.37;-1.37;-2.51	5.27	-3.92	0.04155	5.27	-3.92	0.04155	.	0.547236	0.20178	N	0.097594	T	0.69931	0.3166	N	0.01464	-0.85	0.09310	N	0.999997	B;B;B	0.26775	0.083;0.159;0.159	B;B;B	0.42625	0.043;0.217;0.393	T	0.68021	-0.5519	10	0.14252	T	0.57	-3.961	3.712	0.08423	0.1123:0.1921:0.4703:0.2252	.	324;155;358	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	H	358;358;358;324;155;358	ENSP00000385486:Q358H;ENSP00000312189:Q358H;ENSP00000353945:Q358H;ENSP00000409342:Q324H;ENSP00000410966:Q155H;ENSP00000379011:Q358H	ENSP00000312189:Q358H	Q	-	3	2	2	CPT1B	49358907	49358907	0.000000	0.05858	0.061000	0.19648	0.902000	0.53008	-2.454000	0.01004	-0.741000	0.04797	0.555000	0.69702	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	0		2	2	2	0		0	0	55		55	53	1	2.060000	-3.178364	1	0.170000	NM_152246			57	57		281	278	1		1	1		0	0	55	0		1	2.732125e-01	0	2	0	4	0	57	281
CPT1B	1375	broad.mit.edu	37	22	51012062	51012062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CPT1B_ENST00000312108.7_Silent_p.G351G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000395650.2_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	351					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCAGACGGGCGCCCTCATAGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.986844	0.990000	1.000000																										0				22						c.(1051-1053)ggC>ggT		carnitine palmitoyltransferase 1B (muscle)							42.0	41.0	41.0					22																	51012062		2203	4300	6503	SO:0001819	synonymous_variant	1375	1	121404	28				g.chr22:51012062G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1053C>T	chr22.hg19:g.51012062G>A		0					CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000312108.7_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000405237.3_Silent_p.G351G	p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		10	1190	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	1	1	hg19	c.1053C>T	CCDS14098.1	1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_152246			28	28		249	246	1		1	1		0	0	45	0		1	3.191142e-01	0	2	0	9	0	28	249
CPT1B	1375	broad.mit.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A	rs374942225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R245*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R245*(1)	large_intestine(1)	22						c.(733-735)Cga>Tga		carnitine palmitoyltransferase 1B (muscle)		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102.0	89.0	93.0		631,733,733,733,733,733,733	3.8	1.0	22		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	211/739,245/773,245/692,245/773,245/773,245/773,245/773	51014508	1,13005	2203	4300	6503	SO:0001587	stop_gained	1375	2	121412	36				g.chr22:51014508G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.733C>T	chr22.hg19:g.51014508G>A	ENSP00000353945:p.Arg245*	0		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*	p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		7	870	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Nonsense_Mutation	SNP	ENST00000360719.2	0	1	hg19	c.733C>T	CCDS14098.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	2	CPT1B	49361374	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.401256	1	0.170000	NM_152246			75	75		340	332	1		1	1		0	0	81	0		1	8.379176e-01	0	5	0	12	0	75	340
CPT1B	1375	broad.mit.edu	37	22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	90					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGGGAGGCATCTCTGGAT	0.617																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	1.000000	0.240000	6.700000e-01	3.300000e-01	0.460000	0.515329	0.460000	0.430000																										0				22						c.(268-270)tGc>tAc		carnitine palmitoyltransferase 1B (muscle)							72.0	66.0	68.0					22																	51015765		2203	4300	6503	SO:0001583	missense	1375	0	0					g.chr22:51015765C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.269G>A	chr22.hg19:g.51015765C>T	ENSP00000353945:p.Cys90Tyr	0					CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y	p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	1	2	3	2.015224	Q92523	CPT1B_HUMAN		3	406	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	1	1	hg19	c.269G>A	CCDS14098.1	0	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414432	0.01145	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.25	0.368	0.16146	5.25	0.368	0.16146	.	0.732438	0.14072	N	0.343293	T	0.32526	0.0832	N	0.00793	-1.18	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	-2.9602	3.3974	0.07311	0.1851:0.355:0.0:0.4598	.	90;90;90	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	Y	90	ENSP00000385486:C90Y;ENSP00000312189:C90Y;ENSP00000353945:C90Y;ENSP00000409342:C90Y;ENSP00000414713:C90Y;ENSP00000379011:C90Y;ENSP00000406316:C90Y	ENSP00000312189:C90Y	C	-	2	0	0	CPT1B	49362631	49362631	0.000000	0.05858	0.264000	0.24511	0.960000	0.62799	-0.694000	0.05115	0.230000	0.21059	0.561000	0.74099	TGC	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-12.016110	1	0.170000	NM_152246			11	11		290	287	0		1	0		0	0	58	0		9.983237e-01	5.976593e-02	0	0	0	10	0	11	290
MAPK8IP2	23542	broad.mit.edu	37	22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Necessary for interaction with FGF13.|Ser-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672																																						ENST00000399908.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(871-873)gGt>gAt		mitogen-activated protein kinase 8 interacting protein 2							22.0	27.0	25.0					22																	51043397		2096	4150	6246	SO:0001583	missense	23542	1	120550	25				g.chr22:51043397G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.872G>A	chr22.hg19:g.51043397G>A	ENSP00000382792:p.Gly291Asp	0					MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D	p.G291D	NM_016431.3	NP_057515.1	1	2	3	2.015224	Q13387	JIP2_HUMAN		3	1588	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	1	1	hg19	c.872G>A		1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485847	0.01018	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.41758	2.31;0.99;1.34;2.31;2.29	4.55	-2.65	0.06095	4.55	-2.65	0.06095	Src homology-3 domain (1);	1.288170	0.05115	N	0.489545	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	9	0.23891	T	0.37	-13.0965	5.0843	0.14673	0.5027:0.2628:0.2345:0.0	.	529;557	E7EQG6;Q13387	.;JIP2_HUMAN	D	291;556;177;291;262	ENSP00000382796:G291D;ENSP00000330572:G556D;ENSP00000340015:G177D;ENSP00000382792:G291D;ENSP00000008876:G262D	ENSP00000008876:G262D	G	+	2	0	0	MAPK8IP2	49390263	49390263	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.607000	0.05648	-0.375000	0.07955	0.462000	0.41574	GGT	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	0	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_012324			54	52		210	208	1		1	1		0	0	27	0		1	6.396478e-01	0	3	0	7	0	54	210
ARSA	410	broad.mit.edu	37	22	51063696	51063696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000547307.1	-	8	1806	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D			P15289	ARSA_HUMAN	arylsulfatase A	467					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	TCACAGCTGCGTCTAACTGGG	0.677																																						ENST00000547307.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1399-1401)gaC>gaT		arylsulfatase A	Micafungin(DB01141)|Suramin(DB04786)						32.0	33.0	33.0					22																	51063696		2203	4300	6503	SO:0001819	synonymous_variant	410	7	121360	38				g.chr22:51063696G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1401C>T	chr22.hg19:g.51063696G>A		0					ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000610191.1_5'Flank	p.D467D			1	2	3	2.015224	P15289	ARSA_HUMAN		8	1806	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	1	1	hg19	c.1401C>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	49		49	46	1	2.060000	-20.000000	1	0.170000	NM_000487			65	63		226	221	1		1	1		0	0	49	0		1	1	0	66	0	104	0	65	226
SHANK3	85358	broad.mit.edu	37	22	51142313	51142313	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	546					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGACGAAGCGGCTCTTTCGGC	0.642																																						ENST00000414786.2	1.000000	0.920000	1	9.900000e-01	0.990000	0.994875	0.990000	1.000000																										0				8						c.(1594-1596)cgG>cgT		SH3 and multiple ankyrin repeat domains 3							34.0	39.0	37.0					22																	51142313		2117	4202	6319	SO:0001819	synonymous_variant	85358	0	0					g.chr22:51142313G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1596G>T	chr22.hg19:g.51142313G>T		0					SHANK3_ENST00000262795.3_Silent_p.R562R|SHANK3_ENST00000445220.2_Silent_p.R547R	p.R532R			1	2	3	2.015224	Q9BYB0	SHAN3_HUMAN		13	1823	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	1	1	hg19	c.1596G>T		1																																																																																								1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	1	0	0		2	2	2	0		0	0	20		20	18	1	2.060000	-18.260800	1	0.170000	NM_001080420			10	8		56	55	1		1	1		0	0	20	0		9.969828e-01	9.690244e-01	0	8	0	29	0	10	56
ACR	49	broad.mit.edu	37	22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AACTCGACCCAGTGGTACAAT	0.567																																						ENST00000216139.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999924	0.990000	1.000000																										0				7						c.(637-639)cAg>cCg		acrosin							201.0	174.0	183.0					22																	51182561		2203	4300	6503	SO:0001583	missense	49	0	0					g.chr22:51182561A>C	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.638A>C	chr22.hg19:g.51182561A>C	ENSP00000216139:p.Gln213Pro	0					AC002056.5_ENST00000532913.1_RNA	p.Q213P	NM_001097.2	NP_001088.2	1	2	3	2.015224	P10323	ACRO_HUMAN		4	678	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	1	1	hg19	c.638A>C	CCDS14101.1	1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.933640	0.52866	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	4.48	0.716	0.18191	4.48	0.716	0.18191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.999557	0.08091	N	0.999345	T	0.57504	0.2058	N	0.25380	0.74	0.09310	N	1	D	0.57571	0.98	P	0.61070	0.883	T	0.48736	-0.9009	10	0.39692	T	0.17	-2.5812	7.2849	0.26333	0.6744:0.0:0.3256:0.0	.	213	P10323	ACRO_HUMAN	P	213	ENSP00000216139:Q213P	ENSP00000216139:Q213P	Q	+	2	0	0	ACR	49529427	49529427	0.000000	0.05858	0.025000	0.17156	0.985000	0.73830	-0.661000	0.05311	-0.081000	0.12662	0.370000	0.22315	CAG	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	1	0	1		2	2	2	0		0	0	138		138	149	1	2.060000	-20.000000	1	0.170000	NM_001097			78	76		596	586	1		1			0	0	138	0		1	0	0	0	0	0	0	78	596
RABL2B	11158	broad.mit.edu	37	22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395598.3	-	6	560	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395595.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	117					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498																																					GBM(148;358 1894 4987 13698 40400)	ENST00000395598.3	1.000000	0.720000	1	8.700000e-01	0.990000	0.954728	0.990000	1.000000																										0				1						c.(349-351)Aca>Gca		RAB, member of RAS oncogene family-like 2B							55.0	54.0	55.0					22																	51208393		2202	4296	6498	SO:0001583	missense	11158	0	0					g.chr22:51208393T>C		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.349A>G	chr22.hg19:g.51208393T>C	ENSP00000378962:p.Thr117Ala	0					RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395595.3_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A	p.T117A	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	1	2	3	2.015224	Q9UNT1	RBL2B_HUMAN		6	560	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Q5TZT8|Q96C33	Missense_Mutation	SNP	ENST00000395598.3	1	1	hg19	c.349A>G	CCDS14102.1	1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202051	0.01581	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395595	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.9	-5.15	0.02866	3.9	-5.15	0.02866	Small GTP-binding protein domain (1);	0.643224	0.16329	N	0.219208	T	0.50000	0.1590	N	0.12611	0.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.29243	-1.0018	10	0.48119	T	0.1	-0.5868	2.8444	0.05539	0.1304:0.1695:0.1294:0.5707	.	117;117;117	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	A	117	ENSP00000401906:T117A;ENSP00000346940:T117A;ENSP00000378958:T117A;ENSP00000378962:T117A;ENSP00000378960:T117A	ENSP00000346940:T117A	T	-	1	0	0	RABL2B	49555259	49555259	0.825000	0.29262	0.007000	0.13788	0.033000	0.12548	0.870000	0.28010	-0.604000	0.05760	-0.467000	0.05162	ACA	1.783805e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	1	0	1		2	2	2	0		0	0	71		71	121	1	2.060000	-10.220240	1	0.170000	NM_001003789			30	26		316	272	0		1	1		0	0	71	0		1	7.480512e-01	0	3	0	27	0	30	316
EIF5B	9669	broad.mit.edu	37	2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1024					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)			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						GGCTTCAGTGATGTTGGAACA	0.368																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3070-3072)Atg>Gtg		eukaryotic translation initiation factor 5B							201.0	188.0	192.0					2																	100011029		1889	4107	5996	SO:0001583	missense	9669	0	0					g.chr2:100011029A>G	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.3070A>G	chr2.hg19:g.100011029A>G	ENSP00000289371:p.Met1024Val	1						p.M1024V	NM_015904.3	NP_056988.3	1	2	3	2.195803	O60841	IF2P_HUMAN		20	3272	+			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	1	1	hg19	c.3070A>G	CCDS42721.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247902	0.80024	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.68	5.68	0.88126	5.68	5.68	0.88126	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	D	0.61080	0.989	D	0.65684	0.937	T	0.57866	-0.7737	8	.	.	.	-26.622	15.9398	0.79745	1.0:0.0:0.0:0.0	.	1024	O60841	IF2P_HUMAN	V	1024	ENSP00000289371:M1024V	.	M	+	1	0	0	EIF5B	99377461	99377461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.152000	0.67230	0.523000	0.50628	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	1	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000	NM_015904			275	269		800	787	1		1	1		0	0	189	0		1	1	0	147	0	227	0	275	800
REV1	51455	broad.mit.edu	37	2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P701S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	702					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)			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						GTTCGAACTGGTCTATCATCC	0.403								Direct reversal of damage																														ENST00000258428.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2104-2106)Cca>Tca	Direct reversal of damage	REV1, polymerase (DNA directed)							126.0	114.0	118.0					2																	100029261		2203	4300	6503	SO:0001583	missense	51455	0	0					g.chr2:100029261G>A	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.2104C>T	chr2.hg19:g.100029261G>A	ENSP00000258428:p.Pro702Ser	1					REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P701S	p.P702S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	1	2	3	2.195803	Q9UBZ9	REV1_HUMAN		13	2332	-			O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	1	1	hg19	c.2104C>T	CCDS2045.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023083	0.93462	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.72075	0.824;0.976	T	0.53365	-0.8449	10	0.32370	T	0.25	.	19.3712	0.94488	0.0:0.0:1.0:0.0	.	702;701	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	701;702	ENSP00000377091:P701S;ENSP00000258428:P702S	ENSP00000258428:P702S	P	-	1	0	0	REV1	99395693	99395693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.563000	0.86464	0.650000	0.86243	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_016316			122	117		368	361	1		1	1		0	0	83	0		1	9.999995e-01	0	26	0	39	0	122	368
AFF3	3899	broad.mit.edu	37	2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000317233.4_Missense_Mutation_p.L766I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					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)			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						TTGACCCAGAGAGACCTGATC	0.577																																						ENST00000409236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(2296-2298)Ctc>Atc		AF4/FMR2 family, member 3							70.0	65.0	67.0					2																	100209827		2203	4300	6503	SO:0001583	missense	3899	0	0					g.chr2:100209827G>T	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.2296C>A	chr2.hg19:g.100209827G>T	ENSP00000387207:p.Leu766Ile	1					AFF3_ENST00000356421.2_Missense_Mutation_p.L791I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000317233.4_Missense_Mutation_p.L766I	p.L766I			1	2	3	2.195803	P51826	AFF3_HUMAN		13	2408	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	1	1	hg19	c.2296C>A	CCDS42723.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245767	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.211909	0.32578	N	0.005904	D	0.90068	0.6898	M	0.87180	2.865	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.96	D	0.90986	0.4831	10	0.62326	D	0.03	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	919;766;791	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	766;791;791;766;766;919	ENSP00000317421:L766I;ENSP00000348793:L791I;ENSP00000386834:L791I;ENSP00000387207:L766I	ENSP00000317421:L766I	L	-	1	0	0	AFF3	99576259	99576259	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.230427	1	0.170000	NM_002285			56	56		302	296	1		1	0		0	0	55	0		1	2.529805e-02	0	0	0	2	0	56	302
AFF3	3899	broad.mit.edu	37	2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000317233.4_Missense_Mutation_p.A698V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	698					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)			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						GGAGGCAGAGGCAGCCACGGT	0.617																																						ENST00000409236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(2092-2094)gCc>gTc		AF4/FMR2 family, member 3							53.0	59.0	57.0					2																	100210030		2203	4297	6500	SO:0001583	missense	3899	0	0					g.chr2:100210030G>A	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.2093C>T	chr2.hg19:g.100210030G>A	ENSP00000387207:p.Ala698Val	1					AFF3_ENST00000356421.2_Missense_Mutation_p.A723V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000317233.4_Missense_Mutation_p.A698V	p.A698V			1	2	3	2.195803	P51826	AFF3_HUMAN		13	2205	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	1	1	hg19	c.2093C>T	CCDS42723.1	1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611297	0.14066	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.87	3.87	0.44632	3.87	3.87	0.44632	.	1.118960	0.06955	N	0.815285	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30851	0.297;0.017;0.069	B;B;B	0.32342	0.144;0.026;0.025	T	0.38134	-0.9675	10	0.25106	T	0.35	.	12.7151	0.57111	0.0:0.0:1.0:0.0	.	851;698;723	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	698;723;723;698;698;851;723	ENSP00000317421:A698V;ENSP00000348793:A723V;ENSP00000386834:A723V;ENSP00000387207:A698V	ENSP00000317421:A698V	A	-	2	0	0	AFF3	99576462	99576462	0.219000	0.23619	0.002000	0.10522	0.221000	0.24807	3.346000	0.52190	1.672000	0.50884	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_002285			159	157		451	445	1		1	0		0	0	114	0		1	3.912241e-01	0	0	0	5	0	159	451
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000317233.4_Silent_p.P605P|AFF3_ENST00000356421.2_Silent_p.P630P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	605					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)			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						CGGGCTCCTCGGGCCGGTGGC	0.751																																						ENST00000409236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1813-1815)ccC>ccT		AF4/FMR2 family, member 3							9.0	12.0	11.0					2																	100210308		2058	4079	6137	SO:0001819	synonymous_variant	3899	0	0					g.chr2:100210308G>A	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.1815C>T	chr2.hg19:g.100210308G>A		1					AFF3_ENST00000356421.2_Silent_p.P630P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000317233.4_Silent_p.P605P	p.P605P			1	2	3	2.195803	P51826	AFF3_HUMAN		13	1927	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	1	1	hg19	c.1815C>T	CCDS42723.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	23		23	21	1	2.060000	-20.000000	1	0.170000	NM_002285			56	56		133	129	0		1			0	0	23	0		1	0	0	0	0	0	0	56	133
TAF1B	9014	broad.mit.edu	37	2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	300	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388																																						ENST00000263663.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(898-900)tgC>tgA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							124.0	110.0	114.0					2																	10045080		2203	4300	6503	SO:0001587	stop_gained	9014	0	0					g.chr2:10045080C>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.900C>A	chr2.hg19:g.10045080C>A	ENSP00000263663:p.Cys300*	1					TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	p.C300*	NM_005680.2	NP_005671	1	2	3	2.183349	Q53T94	TAF1B_HUMAN		9	1088	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		B4DI42|F8WD72|Q15574|Q8WVC3	Nonsense_Mutation	SNP	ENST00000263663.5	0	1	hg19	c.900C>A	CCDS33143.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.576971	0.97676	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	.	.	.	5.67	4.69	0.59074	5.67	4.69	0.59074	.	0.183950	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1512	9.6841	0.40087	0.0:0.8161:0.0:0.1839	.	.	.	.	X	300;45	.	.	C	+	3	2	2	TAF1B	9962531	9962531	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.293000	0.33353	2.673000	0.90976	0.467000	0.42956	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_005680			86	84		399	393	1		1	1		0	0	101	0		1	9.910274e-01	0	3	0	33	0	86	399
AFF3	3899	broad.mit.edu	37	2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T	rs201587401		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000317233.4_Missense_Mutation_p.R390H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	390					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)			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						AGAGAGAGCGCGGAGAGCCGT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.001		0.0	False		,,,				2504	0.0					ENST00000409236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1168-1170)cGc>cAc		AF4/FMR2 family, member 3							86.0	100.0	95.0					2																	100266103		2203	4300	6503	SO:0001583	missense	3899	3	121412	39				g.chr2:100266103C>T	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.1169G>A	chr2.hg19:g.100266103C>T	ENSP00000387207:p.Arg390His	1					AFF3_ENST00000356421.2_Missense_Mutation_p.R415H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000317233.4_Missense_Mutation_p.R390H	p.R390H			1	2	3	2.195803	P51826	AFF3_HUMAN		11	1281	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	1	1	hg19	c.1169G>A	CCDS42723.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198071	0.38806	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.07	3.05	0.35203	6.07	3.05	0.35203	.	0.160493	0.29594	N	0.011704	T	0.53916	0.1826	L	0.36672	1.1	0.31696	N	0.641262	B;B;B	0.19583	0.037;0.004;0.003	B;B;B	0.15052	0.012;0.005;0.002	T	0.51482	-0.8700	10	0.41790	T	0.15	.	3.4607	0.07532	0.2012:0.5685:0.0:0.2302	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	390;415;415;390;390;543;415	ENSP00000317421:R390H;ENSP00000348793:R415H;ENSP00000386834:R415H;ENSP00000387207:R390H	ENSP00000317421:R390H	R	-	2	0	0	AFF3	99632535	99632535	0.918000	0.31147	0.991000	0.47740	0.900000	0.52787	1.550000	0.36223	0.319000	0.23209	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_002285			92	92		446	437	1		1	0		0	0	89	0		1	1.403661e-01	0	0	0	4	0	92	446
TAF1B	9014	broad.mit.edu	37	2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	392					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249																																						ENST00000263663.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				14						c.(1174-1176)aAa>aGa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							29.0	30.0	30.0					2																	10051681		2176	4251	6427	SO:0001583	missense	9014	0	0					g.chr2:10051681A>G	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1175A>G	chr2.hg19:g.10051681A>G	ENSP00000263663:p.Lys392Arg	1					TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	p.K392R	NM_005680.2	NP_005671	1	2	3	2.183349	Q53T94	TAF1B_HUMAN		11	1363	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	1	1	hg19	c.1175A>G	CCDS33143.1	1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851969	0.32699	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.15017	2.65;2.46	4.94	3.73	0.42828	4.94	3.73	0.42828	.	0.556803	0.20552	N	0.090085	T	0.13884	0.0336	L	0.41824	1.3	0.29256	N	0.871621	B;B	0.18461	0.028;0.011	B;B	0.16289	0.01;0.015	T	0.13872	-1.0493	9	.	.	.	-6.2759	10.5333	0.44990	0.9209:0.0:0.0791:0.0	.	392;392	Q53T94;Q53T94-2	TAF1B_HUMAN;.	R	392;137	ENSP00000263663:K392R;ENSP00000379542:K137R	.	K	+	2	0	0	TAF1B	9969132	9969132	1.000000	0.71417	0.509000	0.27700	0.952000	0.60782	1.432000	0.34936	0.684000	0.31448	0.482000	0.46254	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_005680			22	22		115	113	1		1	1		0	0	30	0		9.999992e-01	9.957320e-01	0	3	0	46	0	22	115
AFF3	3899	broad.mit.edu	37	2	100453987	100453987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000356421.2_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			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						ATCTACTCTCCTGAAAGCAAA	0.368																																						ENST00000409236.2	1.000000	0.580000	1	7.200000e-01	0.890000	0.871966	0.890000	1.000000																										0				86						c.e6-1		AF4/FMR2 family, member 3							63.0	66.0	65.0					2																	100453987		2202	4300	6502	SO:0001630	splice_region_variant	3899	0	0					g.chr2:100453987C>A	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.874-1G>T	chr2.hg19:g.100453987C>A		1					AFF3_ENST00000356421.2_Splice_Site|AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000317233.4_Splice_Site				1	2	3	2.195803	P51826	AFF3_HUMAN		6	986	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	1	1	hg19		CCDS42723.1	1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561482	0.65538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	4.46	4.46	0.54185	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.787	0.57512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	AFF3	99820419	99820419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.194000	0.58393	2.450000	0.82876	0.650000	0.86243	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.075794	1	0.170000	NM_002285	Intron		23	23		309	303	0		1			0	0	48	0		9.999993e-01	0	0	0	0	0	0	23	309
TAF1B	9014	broad.mit.edu	37	2	10073915	10073915	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	RP11-95D17.1_ENST00000602458.1_lincRNA|TAF1B_ENST00000396242.3_Silent_p.Y268Y	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	523					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348																																						ENST00000263663.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1567-1569)taT>taC		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							58.0	63.0	61.0					2																	10073915		2197	4293	6490	SO:0001819	synonymous_variant	9014	0	0					g.chr2:10073915T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1569T>C	chr2.hg19:g.10073915T>C		1					RP11-95D17.1_ENST00000602458.1_lincRNA|TAF1B_ENST00000396242.3_Silent_p.Y268Y	p.Y523Y	NM_005680.2	NP_005671	1	2	3	2.183349	Q53T94	TAF1B_HUMAN		15	1757	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	1	1	hg19	c.1569T>C	CCDS33143.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_005680			71	69		195	191	1		1	1		0	0	47	0		1	9.999914e-01	0	18	0	33	0	71	195
AFF3	3899	broad.mit.edu	37	2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000317233.4_Missense_Mutation_p.K97E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	97					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)			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						ACCCCAGGTTTGGGAACTCCA	0.438																																						ENST00000409236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(289-291)Aaa>Gaa		AF4/FMR2 family, member 3							92.0	99.0	97.0					2																	100623808		2203	4300	6503	SO:0001583	missense	3899	0	0					g.chr2:100623808T>C	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.289A>G	chr2.hg19:g.100623808T>C	ENSP00000387207:p.Lys97Glu	1					AFF3_ENST00000356421.2_Missense_Mutation_p.K122E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000317233.4_Missense_Mutation_p.K97E	p.K97E			1	2	3	2.195803	P51826	AFF3_HUMAN		4	401	-			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	1	1	hg19	c.289A>G	CCDS42723.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264756	0.80358	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.065008	0.64402	D	0.000017	T	0.71651	0.3365	L	0.28115	0.83	0.31583	N	0.654829	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.994;0.988	D;D;D;D;P	0.81914	0.965;0.941;0.995;0.926;0.852	T	0.74441	-0.3664	10	0.40728	T	0.16	.	15.3723	0.74573	0.0:0.0:0.0:1.0	.	251;251;97;97;122	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	E	97;122;122;97;97;251;122;97;97;97;97;97	ENSP00000317421:K97E;ENSP00000348793:K122E;ENSP00000386834:K122E;ENSP00000387207:K97E;ENSP00000406484:K97E;ENSP00000396582:K97E;ENSP00000399795:K97E;ENSP00000411383:K97E;ENSP00000395068:K97E	ENSP00000317421:K97E	K	-	1	0	0	AFF3	99990240	99990240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.043000	0.49823	2.085000	0.62840	0.477000	0.44152	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_002285			125	121		368	361	1		1	0		0	0	78	0		1	2.698140e-01	0	0	0	4	0	125	368
LONRF2	164832	broad.mit.edu	37	2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	645	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488																																						ENST00000393437.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1933-1935)gaG>gaT		LON peptidase N-terminal domain and ring finger 2							90.0	67.0	75.0					2																	100903511		2203	4300	6503	SO:0001583	missense	164832	0	0					g.chr2:100903511C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1935G>T	chr2.hg19:g.100903511C>A	ENSP00000377086:p.Glu645Asp	1					LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	p.E645D	NM_198461.3	NP_940863.3	1	2	3	2.195803	Q1L5Z9	LONF2_HUMAN		11	2574	-			B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	1	1	hg19	c.1935G>T	CCDS2046.2	1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232343	0.09969	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-1.99;-2.14	4.95	1.78	0.24846	4.95	1.78	0.24846	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.356504	0.31031	N	0.008395	T	0.77916	0.4202	L	0.35288	1.05	0.34150	D	0.667401	B	0.22541	0.071	B	0.29785	0.107	T	0.69030	-0.5253	10	0.14656	T	0.56	-6.4393	8.2426	0.31669	0.0:0.5979:0.1406:0.2615	.	645	Q1L5Z9	LONF2_HUMAN	D	645;402	ENSP00000377086:E645D;ENSP00000386823:E402D	ENSP00000377086:E645D	E	-	3	2	2	LONRF2	100269943	100269943	0.230000	0.23740	0.173000	0.22940	0.351000	0.29236	-0.455000	0.06762	0.390000	0.25115	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_198461			49	48		167	160	1		1	1		0	0	37	0		1	8.273353e-01	0	6	0	7	0	49	167
GRHL1	29841	broad.mit.edu	37	2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	182					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)			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)		GCCCACTGAGCGGGTGGTGGT	0.542																																						ENST00000324907.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(544-546)Cgg>Tgg		grainyhead-like 1 (Drosophila)		C	TRP/ARG	0,4406		0,0,2203	119.0	115.0	117.0		544	5.5	0.9	2	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/619	10101440	1,13005	2203	4300	6503	SO:0001583	missense	29841	1	121412	36				g.chr2:10101440C>T	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.544C>T	chr2.hg19:g.10101440C>T	ENSP00000324693:p.Arg182Trp	1					GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	p.R182W	NM_198182.2	NP_937825.2	1	2	3	2.183349	Q9NZI5	GRHL1_HUMAN		4	680	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	1	1	hg19	c.544C>T	CCDS33144.2	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181082	0.78677	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.13420	2.59;2.6	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.100619	0.64402	D	0.000002	T	0.24470	0.0593	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	T	0.00287	-1.1846	10	0.39692	T	0.17	.	14.258	0.66065	0.1489:0.8511:0.0:0.0	.	182	Q9NZI5	GRHL1_HUMAN	W	182	ENSP00000384209:R182W;ENSP00000324693:R182W	ENSP00000324693:R182W	R	+	1	2	2	GRHL1	10018891	10018891	1.000000	0.71417	0.902000	0.35471	0.942000	0.58702	4.218000	0.58554	2.594000	0.87642	0.563000	0.77884	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-3.325837	1	0.170000	NM_014552			115	115		572	564	1		1	1		0	0	110	0		1	7.747034e-01	0	3	0	13	0	115	572
CHST10	9486	broad.mit.edu	37	2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000409701.1_Missense_Mutation_p.D258N|CHST10_ENST00000542617.1_Missense_Mutation_p.D306N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	258			D -> N (in dbSNP:rs3748932).		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)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547																																						ENST00000264249.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(772-774)Gac>Aac		carbohydrate sulfotransferase 10							254.0	228.0	237.0					2																	101010006		2203	4300	6503	SO:0001583	missense	9486	0	0					g.chr2:101010006C>T	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.772G>A	chr2.hg19:g.101010006C>T	ENSP00000264249:p.Asp258Asn	1					CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	p.D258N	NM_004854.4	NP_004845.1	1	2	3	2.195803	O43529	CHSTA_HUMAN		7	1157	-			Q53T18	Missense_Mutation	SNP	ENST00000264249.3	1	1	hg19	c.772G>A	CCDS2047.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.781912	0.96929	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.084712	0.85682	D	0.000000	T	0.70859	0.3272	L	0.37750	1.13	0.80722	D	1	P	0.43231	0.801	B	0.43225	0.412	T	0.65668	-0.6112	10	0.23302	T	0.38	-38.744	20.6208	0.99490	0.0:1.0:0.0:0.0	rs3748932;rs3748932	258	O43529	CHSTA_HUMAN	N	258;306;258	ENSP00000264249:D258N;ENSP00000438869:D306N;ENSP00000387309:D258N	ENSP00000264249:D258N	D	-	1	0	0	CHST10	100376438	100376438	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	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000	NM_004854			154	153		814	804	1		1	1		0	0	149	0		1	9.712847e-01	0	5	0	27	0	154	814
PDCL3	79031	broad.mit.edu	37	2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	109	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428																																						ENST00000264254.6	1.000000	0.710000	1	8.300000e-01	0.970000	0.935195	0.970000	1.000000																										0				12						c.(325-327)gCt>gTt		phosducin-like 3							102.0	99.0	100.0					2																	101186141		2203	4298	6501	SO:0001583	missense	79031	0	0					g.chr2:101186141C>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.326C>T	chr2.hg19:g.101186141C>T	ENSP00000264254:p.Ala109Val	1						p.A109V	NM_024065.4	NP_076970.1	1	2	3	2.195803	Q9H2J4	PDCL3_HUMAN		4	704	+			B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	1	1	hg19	c.326C>T	CCDS33261.1	1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892454	0.91889	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T;T	0.42513	0.97;0.97	4.77	4.77	0.60923	4.77	4.77	0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.74639	-0.3598	10	0.72032	D	0.01	-21.0203	18.1468	0.89659	0.0:1.0:0.0:0.0	.	109	Q9H2J4	PDCL3_HUMAN	V	109;59	ENSP00000264254:A109V;ENSP00000413936:A59V	ENSP00000264254:A109V	A	+	2	0	0	PDCL3	100552573	100552573	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.469000	0.80959	2.347000	0.79759	0.555000	0.69702	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	1	0	1		2	2	2	0		0	0	107		107	110	1	2.060000	-10.777600	1	0.170000	NM_024065			42	42		509	496	1		1	1		0	0	107	0		1	9.996122e-01	0	17	0	124	0	42	509
NPAS2	4862	broad.mit.edu	37	2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	311	PAC.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443																																						ENST00000335681.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(931-933)tCg>tTg		neuronal PAS domain protein 2							166.0	151.0	156.0					2																	101584767		2203	4300	6503	SO:0001583	missense	4862	0	0					g.chr2:101584767C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.932C>T	chr2.hg19:g.101584767C>T	ENSP00000338283:p.Ser311Leu	1					NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	p.S311L	NM_002518.3	NP_002509.2	1	2	3	2.195803	Q99743	NPAS2_HUMAN		11	1217	+			Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	1	1	hg19	c.932C>T	CCDS2048.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.599798	0.96614	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.24538	1.85;1.85	5.76	5.76	0.90799	5.76	5.76	0.90799	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	376;311	F5H027;Q99743	.;NPAS2_HUMAN	L	311;376	ENSP00000338283:S311L;ENSP00000438428:S376L	ENSP00000338283:S311L	S	+	2	0	0	NPAS2	100951199	100951199	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.886000	0.69743	2.882000	0.98803	0.655000	0.94253	TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				96	96		423	416	1		1	1		0	0	73	0		1	1	0	48	0	73	0	96	423
NPAS2	4862	broad.mit.edu	37	2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	368					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557																																						ENST00000335681.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1102-1104)gAc>gGc		neuronal PAS domain protein 2							92.0	89.0	90.0					2																	101587499		2203	4300	6503	SO:0001583	missense	4862	0	0					g.chr2:101587499A>G	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1103A>G	chr2.hg19:g.101587499A>G	ENSP00000338283:p.Asp368Gly	1					NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.D368G	NM_002518.3	NP_002509.2	1	2	3	2.195803	Q99743	NPAS2_HUMAN		12	1388	+			Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	1	1	hg19	c.1103A>G	CCDS2048.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468956	0.84533	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05447	3.46;3.44	5.85	4.63	0.57726	5.85	4.63	0.57726	.	0.146336	0.64402	D	0.000013	T	0.11452	0.0279	L	0.59436	1.845	0.46298	D	0.998977	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.01108	-1.1449	10	0.54805	T	0.06	.	11.9491	0.52944	0.87:0.0:0.0:0.13	.	433;368	F5H027;Q99743	.;NPAS2_HUMAN	G	368;433	ENSP00000338283:D368G;ENSP00000438428:D433G	ENSP00000338283:D368G	D	+	2	0	0	NPAS2	100953931	100953931	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.884000	0.63135	2.233000	0.73108	0.533000	0.62120	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-5.401221	1	0.170000				111	105		314	305	1		1	1		0	0	60	0		1	1	0	69	0	80	0	111	314
NPAS2	4862	broad.mit.edu	37	2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	624					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572																																						ENST00000335681.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1870-1872)Ggc>Tgc		neuronal PAS domain protein 2							73.0	73.0	73.0					2																	101606760		2203	4300	6503	SO:0001583	missense	4862	0	0					g.chr2:101606760G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1870G>T	chr2.hg19:g.101606760G>T	ENSP00000338283:p.Gly624Cys	1					NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	p.G624C	NM_002518.3	NP_002509.2	1	2	3	2.195803	Q99743	NPAS2_HUMAN		18	2155	+			Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	1	1	hg19	c.1870G>T	CCDS2048.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.160|8.160	0.789285|0.789285	0.16258|0.16258	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05025|.	3.53;3.51|.	4.66|4.66	-0.419|-0.419	0.12340|0.12340	4.66|4.66	-0.419|-0.419	0.12340|0.12340	.|.	1.028670|.	0.07683|.	N|.	0.937489|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.993|.	P;P|.	0.60415|.	0.874;0.672|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.38643|.	T|.	0.18|.	.|.	5.7997|5.7997	0.18408|0.18408	0.331:0.0:0.5374:0.1316|0.331:0.0:0.5374:0.1316	.|.	689;624|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	624;689|122	ENSP00000338283:G624C;ENSP00000438428:G689C|.	ENSP00000338283:G624C|.	G|R	+|+	1|2	0|0	0|0	NPAS2|NPAS2	100973192|100973192	100973192|100973192	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.028000|0.028000	0.11728|0.11728	-1.072000|-1.072000	0.03434|0.03434	-0.092000|-0.092000	0.12417|0.12417	-0.463000|-0.463000	0.05309|0.05309	GGC|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	0	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-4.387011	1	0.170000				124	120		427	417	1		1	1		0	0	105	0		1	1	0	50	0	38	0	124	427
TBC1D8	11138	broad.mit.edu	37	2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000376840.4	-	20	3109	c.3110C>A	c.(3109-3111)tCt>tAt	p.S1037Y	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1052Y			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1037					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582																																						ENST00000376840.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3109-3111)tCt>tAt		TBC1 domain family, member 8 (with GRAM domain)							26.0	30.0	29.0					2																	101624596		2048	4207	6255	SO:0001583	missense	11138	0	0					g.chr2:101624596G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3110C>A	chr2.hg19:g.101624596G>T	ENSP00000366036:p.Ser1037Tyr	1					RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1052Y	p.S1037Y			1	2	3	2.195803	O95759	TBCD8_HUMAN		20	3109	-			A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	1	1	hg19	c.3110C>A	CCDS46375.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465430	0.63513	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03301	3.98;3.98	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.128230	0.37136	N	0.002237	T	0.05410	0.0143	L	0.40543	1.245	0.32090	N	0.591968	P	0.49090	0.919	P	0.49708	0.62	T	0.01715	-1.1289	10	0.05351	T	0.99	-16.2886	12.818	0.57677	0.0849:0.0:0.9151:0.0	.	1037	O95759	TBCD8_HUMAN	Y	1037;1052	ENSP00000366036:S1037Y;ENSP00000386856:S1052Y	ENSP00000366036:S1037Y	S	-	2	0	0	TBC1D8	100991028	100991028	0.982000	0.34865	0.946000	0.38457	0.902000	0.53008	1.889000	0.39718	2.454000	0.82982	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	1	0	0		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_007063			58	56		148	144	1		1	1		0	0	27	0		1	1	0	80	0	104	0	58	148
TBC1D8	11138	broad.mit.edu	37	2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000376840.4	-	20	3016	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.E1021G			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1006					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468																																						ENST00000376840.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(3016-3018)gAa>gGa		TBC1 domain family, member 8 (with GRAM domain)							32.0	37.0	35.0					2																	101624689		2050	4217	6267	SO:0001583	missense	11138	0	0					g.chr2:101624689T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3017A>G	chr2.hg19:g.101624689T>C	ENSP00000366036:p.Glu1006Gly	1					RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.E1021G	p.E1006G			1	2	3	2.195803	O95759	TBCD8_HUMAN		20	3016	-			A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	1	1	hg19	c.3017A>G	CCDS46375.1	1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676379	0.29783	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.97;3.96	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.090866	0.47455	D	0.000223	T	0.03477	0.0100	L	0.31804	0.96	0.23809	N	0.996785	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.31617	T	0.26	-12.8241	9.7618	0.40537	0.0:0.0771:0.0:0.9229	.	1006	O95759	TBCD8_HUMAN	G	1006;1021	ENSP00000366036:E1006G;ENSP00000386856:E1021G	ENSP00000366036:E1006G	E	-	2	0	0	TBC1D8	100991121	100991121	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.879000	0.48522	1.984000	0.57885	0.529000	0.55759	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_007063			43	42		108	107	1		1	1		0	0	25	0		1	1	0	95	0	127	0	43	108
KLF11	8462	broad.mit.edu	37	2	10192541	10192541	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000305883.1	+	4	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_ENST00000535335.1_Silent_p.I465I|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000540845.1_Silent_p.I465I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	482					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612																																					Melanoma(56;431 1507 23687 50789)	ENST00000305883.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1444-1446)atC>atA		Kruppel-like factor 11							57.0	56.0	56.0					2																	10192541		2203	4300	6503	SO:0001819	synonymous_variant	8462	0	0					g.chr2:10192541C>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1446C>A	chr2.hg19:g.10192541C>A		1					KLF11_ENST00000535335.1_Silent_p.I465I|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000540845.1_Silent_p.I465I	p.I482I	NM_003597.4	NP_003588.1	1	2	3	2.183349	O14901	KLF11_HUMAN		4	1608	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	1	1	hg19	c.1446C>A	CCDS1668.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_003597			73	73		209	206	1		1	1		0	0	47	0		1	1	0	22	0	64	0	73	209
RNF149	284996	broad.mit.edu	37	2	101905443	101905443	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	285					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTTGCATGGCAGAATTCTAA	0.279																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3	1.000000	0.470000	1	6.300000e-01	0.830000	0.822755	0.830000	1.000000																										0				12						c.(853-855)ctG>ctA		ring finger protein 149							77.0	82.0	80.0					2																	101905443		2202	4298	6500	SO:0001819	synonymous_variant	284996	0	0					g.chr2:101905443C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.855G>A	chr2.hg19:g.101905443C>T		1						p.L285L	NM_173647.3	NP_775918.2	1	2	3	2.195803	Q8NC42	RN149_HUMAN		4	962	-			Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Silent	SNP	ENST00000295317.3	1	1	hg19	c.855G>A	CCDS2051.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-5.769375	1	0.170000	NM_173647			13	13		189	187	0		1	1		0	0	62	0		9.995590e-01	9.999912e-01	0	22	0	313	0	13	189
IL1R2	7850	broad.mit.edu	37	2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A	rs551509426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	283	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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CACATAGAGAGCGCCTACCCG	0.582																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(847-849)aGc>aAc		interleukin 1 receptor, type II							62.0	58.0	59.0					2																	102641091		2203	4300	6503	SO:0001583	missense	7850	0	0					g.chr2:102641091G>A	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.848G>A	chr2.hg19:g.102641091G>A	ENSP00000330959:p.Ser283Asn	1					IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N	p.S283N	NM_004633.3	NP_004624.1	1	2	3	2.195803	P27930	IL1R2_HUMAN		7	1077	+			D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	1	1	hg19	c.848G>A	CCDS2054.1	1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726765	0.15439	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.22945	1.93;1.93;1.93	5.86	-11.7	0.00046	5.86	-11.7	0.00046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.387270	0.00966	N	0.003179	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.16420	T	0.52	.	1.5337	0.02541	0.3941:0.2197:0.0787:0.3074	.	283	P27930	IL1R2_HUMAN	N	283	ENSP00000330959:S283N;ENSP00000377066:S283N;ENSP00000414611:S283N	ENSP00000330959:S283N	S	+	2	0	0	IL1R2	102007523	102007523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.162000	0.01277	-3.249000	0.00205	0.650000	0.86243	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_004633			61	61		325	320	1		1	0		0	0	53	0		1	9.861633e-01	0	0	0	38	0	61	325
IL1RL2	8808	broad.mit.edu	37	2	102818144	102818144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000441515.2_Silent_p.Y89Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	206	Ig-like C2-type 2.				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)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478																																						ENST00000264257.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				26						c.(616-618)taC>taT		interleukin 1 receptor-like 2							133.0	108.0	117.0					2																	102818144		2203	4300	6503	SO:0001819	synonymous_variant	8808	5	121400	33				g.chr2:102818144C>T	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.618C>T	chr2.hg19:g.102818144C>T		1					IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y	p.Y206Y	NM_003854.2	NP_003845.2	1	2	3	2.195803	Q9HB29	ILRL2_HUMAN		5	744	+			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	1	1	hg19	c.618C>T	CCDS2056.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_003854			34	33		188	183	1		1	0		0	0	34	0		1	1.779502e-01	0	0	0	5	0	34	188
IL18R1	8809	broad.mit.edu	37	2	103013310	103013310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	530					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)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGTAGAGACGAACCGGAAG	0.423																																						ENST00000409599.1	0.860000	0.320000	7.200000e-01	4.300000e-01	0.560000	0.581017	0.560000	0.540000																										0				34						c.(1588-1590)gaC>gaT		interleukin 18 receptor 1							47.0	51.0	50.0					2																	103013310		2203	4300	6503	SO:0001819	synonymous_variant	8809	3	121406	36				g.chr2:103013310C>T	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.1590C>T	chr2.hg19:g.103013310C>T		1					IL18R1_ENST00000233957.1_Silent_p.D530D	p.D530D			1	2	3	2.195803	Q13478	IL18R_HUMAN		12	1946	+			B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	1	1	hg19	c.1590C>T	CCDS2060.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-16.140250	1	0.170000	NM_003855			15	15		331	325	0		1	0		0	0	59	0		9.998628e-01	1.205224e-01	0	0	0	13	0	15	331
IL18RAP	8807	broad.mit.edu	37	2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000264260.2	+	12	2082	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	498	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)			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						CAAGCAGCAGTGAATCTTGCC	0.393																																						ENST00000264260.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1492-1494)gTg>gCg		interleukin 18 receptor accessory protein							127.0	129.0	129.0					2																	103068334		2203	4300	6503	SO:0001583	missense	8807	0	0					g.chr2:103068334T>C	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.1493T>C	chr2.hg19:g.103068334T>C	ENSP00000264260:p.Val498Ala	1					IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	p.V498A	NM_003853.2	NP_003844.1	1	2	3	2.195803	O95256	I18RA_HUMAN		12	2082	+			B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	1	1	hg19	c.1493T>C	CCDS2061.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969215	0.74246	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09445	2.98;2.98	6.02	4.86	0.63082	6.02	4.86	0.63082	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.097526	0.44688	N	0.000424	T	0.30947	0.0781	M	0.82056	2.57	0.34843	D	0.740879	D	0.64830	0.994	P	0.62298	0.9	T	0.49986	-0.8880	10	0.62326	D	0.03	.	11.8534	0.52423	0.0:0.0677:0.0:0.9323	.	498	O95256	I18RA_HUMAN	A	498;356	ENSP00000264260:V498A;ENSP00000387201:V356A	ENSP00000264260:V498A	V	+	2	0	0	IL18RAP	102434766	102434766	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.227000	0.58612	1.105000	0.41606	0.528000	0.53228	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_003853			105	101		467	459	1		1	0		0	0	82	0		1	3.436449e-02	0	0	0	2	0	105	467
SLC9A4	389015	broad.mit.edu	37	2	103095444	103095444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103095444C>A	ENST00000295269.4	+	2	860	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	135					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTGTATCTCCTGCCACCCAT	0.612																																						ENST00000295269.4	0.560000	0.190000	4.600000e-01	2.600000e-01	0.350000	0.366736	0.350000	0.340000																										0				43						c.(403-405)Ctg>Atg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							70.0	65.0	67.0					2																	103095444		2203	4300	6503	SO:0001583	missense	389015	0	0					g.chr2:103095444C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.403C>A	chr2.hg19:g.103095444C>A	ENSP00000295269:p.Leu135Met	1						p.L135M	NM_001011552.3	NP_001011552.2	1	2	3	2.195803	Q6AI14	SL9A4_HUMAN		2	860	+			Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	1	1	hg19	c.403C>A	CCDS33264.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111165	0.77210	.	.	ENSG00000180251	ENST00000295269	T	0.25912	1.77	5.92	5.92	0.95590	5.92	5.92	0.95590	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	H	0.94808	3.585	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	T	0.72187	-0.4366	10	0.87932	D	0	.	14.4691	0.67504	0.0:0.9302:0.0:0.0698	.	135	Q6AI14	SL9A4_HUMAN	M	135	ENSP00000295269:L135M	ENSP00000295269:L135M	L	+	1	2	2	SLC9A4	102461876	102461876	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.996000	0.57009	2.804000	0.96469	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.704707	1	0.170000	NM_001011552.3			13	12		469	465	0		1			0	0	78	0		9.995051e-01	0	0	0	0	0	0	13	469
SLC9A4	389015	broad.mit.edu	37	2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAATACAACCTCAAACCCCA	0.488																																						ENST00000295269.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1843-1845)Ctc>Atc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							192.0	206.0	201.0					2																	103141507		2203	4300	6503	SO:0001583	missense	389015	0	0					g.chr2:103141507C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1843C>A	chr2.hg19:g.103141507C>A	ENSP00000295269:p.Leu615Ile	1						p.L615I	NM_001011552.3	NP_001011552.2	1	2	3	2.195803	Q6AI14	SL9A4_HUMAN		10	2300	+			Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	1	1	hg19	c.1843C>A	CCDS33264.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488560	0.44249	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	5.84	4.03	0.46877	5.84	4.03	0.46877	.	0.268148	0.37530	N	0.002059	T	0.64238	0.2580	M	0.75264	2.295	0.32570	N	0.529854	D	0.63046	0.992	D	0.63703	0.917	T	0.74355	-0.3692	10	0.54805	T	0.06	.	12.1068	0.53818	0.0:0.8556:0.0:0.1444	.	615	Q6AI14	SL9A4_HUMAN	I	615	ENSP00000295269:L615I	ENSP00000295269:L615I	L	+	1	0	0	SLC9A4	102507939	102507939	1.000000	0.71417	0.956000	0.39512	0.001000	0.01503	3.026000	0.49689	1.481000	0.48307	-0.152000	0.13540	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	1	0	1		2	2	2	0		0	0	255		255	254	1	2.060000	-20.000000	1	0.170000	NM_001011552.3			348	345		1062	1042	1		1			0	0	255	0		1	0	0	0	0	0	0	348	1062
SLC9A2	6549	broad.mit.edu	37	2	103300642	103300642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	424					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463																																						ENST00000233969.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.989695	0.990000	1.000000																										0				42						c.(1270-1272)ctG>ctA		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							190.0	168.0	175.0					2																	103300642		2203	4300	6503	SO:0001819	synonymous_variant	6549	0	0					g.chr2:103300642G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1272G>A	chr2.hg19:g.103300642G>A		1						p.L424L	NM_003048.3	NP_003039.2	1	2	3	2.195803	Q9UBY0	SL9A2_HUMAN		5	1414	+			B2RMS2	Silent	SNP	ENST00000233969.2	1	1	hg19	c.1272G>A	CCDS2062.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-14.663730	1	0.170000				51	51		516	505	0		1	0		0	0	91	0		1	0	0	0	0	1	0	51	516
MFSD9	84804	broad.mit.edu	37	2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	8					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721																																						ENST00000258436.5	1.000000	0.760000	1	9.300000e-01	0.990000	0.972967	0.990000	1.000000																										0				20						c.(22-24)gAc>gGc		major facilitator superfamily domain containing 9							25.0	30.0	28.0					2																	103353247		2203	4299	6502	SO:0001583	missense	84804	0	0					g.chr2:103353247T>C		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.23A>G	chr2.hg19:g.103353247T>C	ENSP00000258436:p.Asp8Gly	1					TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	p.D8G	NM_032718.3	NP_116107.3	1	2	3	2.195803	Q8NBP5	MFSD9_HUMAN		1	66	-			Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	1	1	hg19	c.23A>G	CCDS2063.1	1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235011	0.05983	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	4.24	-4.59	0.03400	4.24	-4.59	0.03400	.	1.454500	0.04609	N	0.399982	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.08381	T	0.77	-4.4032	3.5159	0.07725	0.4053:0.2354:0.0:0.3594	.	8	Q8NBP5	MFSD9_HUMAN	G	8	ENSP00000258436:D8G	ENSP00000258436:D8G	D	-	2	0	0	MFSD9	102719679	102719679	0.312000	0.24545	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.778000	0.04566	-1.589000	0.00846	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_032718			28	27		292	290	0		1	1		0	0	40	0		1	7.680055e-01	0	3	0	28	0	28	292
TMEM182	130827	broad.mit.edu	37	2	103378707	103378707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	ENST00000412401.2	+	1	236	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	11						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTTCTTTGGAGCTCTCTTTGG	0.368																																						ENST00000412401.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(31-33)Gct>Tct		transmembrane protein 182							142.0	134.0	137.0					2																	103378707		2203	4300	6503	SO:0001583	missense	130827	0	0					g.chr2:103378707G>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.31G>T	chr2.hg19:g.103378707G>T	ENSP00000394178:p.Ala11Ser	1					TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	p.A11S	NM_144632.3	NP_653233.3	1	2	3	2.195803	Q6ZP80	TM182_HUMAN		1	236	+			C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	0	1	hg19	c.31G>T	CCDS2064.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314998	0.81358	.	.	ENSG00000170417	ENST00000412401	T	0.55413	0.52	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.045126	0.85682	D	0.000000	T	0.38878	0.1057	N	0.22421	0.69	0.30613	N	0.759332	P	0.37781	0.608	B	0.29862	0.108	T	0.51679	-0.8675	10	0.66056	D	0.02	-15.8891	16.7888	0.85582	0.0:0.0:0.8707:0.1293	.	11	Q6ZP80	TM182_HUMAN	S	11	ENSP00000394178:A11S	ENSP00000394178:A11S	A	+	1	0	0	TMEM182	102745139	102745139	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.570000	0.60872	2.865000	0.98341	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_144632			77	76		330	322	0		1			0	0	67	0		1	0	0	0	0	0	0	77	330
TMEM182	130827	broad.mit.edu	37	2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A	rs376008407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	113						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463																																						ENST00000412401.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(337-339)cGt>cAt		transmembrane protein 182		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	88.0	92.0	91.0		338	5.2	1.0	2		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM182	NM_144632.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	113/230	103414328	3,13003	2203	4300	6503	SO:0001583	missense	130827	6	121412	39				g.chr2:103414328G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.338G>A	chr2.hg19:g.103414328G>A	ENSP00000394178:p.Arg113His	1					TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	p.R113H	NM_144632.3	NP_653233.3	1	2	3	2.195803	Q6ZP80	TM182_HUMAN		4	543	+			C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	1	1	hg19	c.338G>A	CCDS2064.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032092	0.93575	4.54E-4	1.16E-4	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.69040	-0.37;-0.37;-0.37	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83688	0.0175	10	0.87932	D	0	-17.6232	19.1731	0.93588	0.0:0.0:1.0:0.0	.	113;70	Q6ZP80;B8ZZ71	TM182_HUMAN;.	H	70;17;70;113	ENSP00000387258:R17H;ENSP00000387184:R70H;ENSP00000394178:R113H	ENSP00000387184:R70H	R	+	2	0	0	TMEM182	102780760	102780760	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_144632			136	131		358	352	1		1	1		0	0	81	0		1	9.990196e-01	0	15	0	15	0	136	358
C2orf48	348738	broad.mit.edu	37	2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572																																						ENST00000381786.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(334-336)tTc>tCc		chromosome 2 open reading frame 48							51.0	55.0	54.0					2																	10350578		2203	4300	6503	SO:0001583	missense	348738	0	0					g.chr2:10350578T>C	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.335T>C	chr2.hg19:g.10350578T>C	ENSP00000371205:p.Phe112Ser	1						p.F112S	NM_182626.2	NP_872432.1	1	2	3	2.183349	Q96LS8	CB048_HUMAN		4	624	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Missense_Mutation	SNP	ENST00000381786.3	1	1	hg19	c.335T>C	CCDS1670.1	1	.	.	.	.	.	.	.	.	.	.	T	7.417	0.635880	0.14386	.	.	ENSG00000163009	ENST00000381786	T	0.46451	0.87	1.51	-0.013	0.13986	1.51	-0.013	0.13986	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	3.5676	0.07905	0.5114:0.0:0.0:0.4886	.	112	Q96LS8	CB048_HUMAN	S	112	ENSP00000371205:F112S	ENSP00000371205:F112S	F	+	2	0	0	C2orf48	10268029	10268029	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.390000	0.07332	-0.033000	0.13736	0.448000	0.29417	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_182626			95	95		381	375	1		1	0		0	0	82	0		1	0	0	0	0	1	0	95	381
TMEM182	130827	broad.mit.edu	37	2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	173						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGGGTCCAGGCAGTGGCTGA	0.468																																						ENST00000412401.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(517-519)Gca>Aca		transmembrane protein 182							106.0	88.0	94.0					2																	103431254		2203	4300	6503	SO:0001583	missense	130827	0	0					g.chr2:103431254G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.517G>A	chr2.hg19:g.103431254G>A	ENSP00000394178:p.Ala173Thr	1					TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T	p.A173T	NM_144632.3	NP_653233.3	1	2	3	2.195803	Q6ZP80	TM182_HUMAN		5	722	+			C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	1	1	hg19	c.517G>A	CCDS2064.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925589	0.52759	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68479	-0.33;-0.33;-0.33	6.16	5.27	0.74061	6.16	5.27	0.74061	.	0.229666	0.46145	D	0.000306	T	0.69424	0.3109	L	0.44542	1.39	0.42575	D	0.993199	P;P	0.41784	0.643;0.762	P;P	0.50378	0.639;0.639	T	0.67829	-0.5569	10	0.33141	T	0.24	-3.7239	15.7838	0.78286	0.0:0.1353:0.8647:0.0	.	173;130	Q6ZP80;B8ZZ71	TM182_HUMAN;.	T	77;130;173	ENSP00000387258:A77T;ENSP00000387184:A130T;ENSP00000394178:A173T	ENSP00000387184:A130T	A	+	1	0	0	TMEM182	102797686	102797686	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.473000	0.53122	1.583000	0.49898	0.650000	0.86243	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_144632			43	43		136	129	1		1	1		0	0	31	0		1	9.996131e-01	0	17	0	25	0	43	136
TGFBRAP1	9392	broad.mit.edu	37	2	105915065	105915065	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A262A(1)	kidney(1)	31						c.(784-786)gcG>gcA		transforming growth factor, beta receptor associated protein 1							106.0	96.0	99.0					2																	105915065		2203	4300	6503	SO:0001819	synonymous_variant	9392	2	121412	35				g.chr2:105915065C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.786G>A	chr2.hg19:g.105915065C>T		1					TGFBRAP1_ENST00000258449.1_Silent_p.A262A	p.A262A			1	2	3	2.195803	Q8WUH2	TGFA1_HUMAN		3	1212	-			A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	1	1	hg19	c.786G>A	CCDS2067.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_004257			126	125		352	350	1		1	1		0	0	95	0		1	9.999936e-01	0	5	0	46	0	126	352
TGFBRAP1	9392	broad.mit.edu	37	2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	172	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(514-516)Gct>Act		transforming growth factor, beta receptor associated protein 1							113.0	114.0	113.0					2																	105924245		2203	4300	6503	SO:0001583	missense	9392	0	0					g.chr2:105924245C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.514G>A	chr2.hg19:g.105924245C>T	ENSP00000377027:p.Ala172Thr	1					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T	p.A172T			1	2	3	2.195803	Q8WUH2	TGFA1_HUMAN		2	940	-			A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	1	1	hg19	c.514G>A	CCDS2067.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952985	0.73902	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04406	3.63;3.63	5.32	5.32	0.75619	5.32	5.32	0.75619	Citron-like (2);	0.053757	0.64402	D	0.000001	T	0.06554	0.0168	L	0.47716	1.5	0.80722	D	1	P	0.47841	0.901	B	0.40677	0.337	T	0.48801	-0.9003	10	0.10636	T	0.68	-20.6955	19.1899	0.93660	0.0:1.0:0.0:0.0	.	172	Q8WUH2	TGFA1_HUMAN	T	172	ENSP00000377027:A172T;ENSP00000258449:A172T	ENSP00000258449:A172T	A	-	1	0	0	TGFBRAP1	105290677	105290677	1.000000	0.71417	0.590000	0.28732	0.869000	0.49853	7.313000	0.78978	2.760000	0.94817	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	1	0	1		2	2	2	0		0	0	157		157	155	1	2.060000	-20.000000	1	0.170000	NM_004257			175	173		859	839	1		1	1		0	0	157	0		1	9.948929e-01	0	6	0	35	0	175	859
FHL2	2274	broad.mit.edu	37	2	105977891	105977891	+	Splice_Site	SNP	C	C	T	rs568647217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409807.1	-	6	1023	c.689G>A	c.(688-690)gGa>gAa	p.G230E	FHL2_ENST00000393352.3_Splice_Site_p.G230E|FHL2_ENST00000344213.4_Splice_Site_p.G340E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393353.3_Splice_Site_p.G230E|FHL2_ENST00000409177.1_Splice_Site_p.G346E|FHL2_ENST00000408995.1_Splice_Site_p.G230E|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000358129.4_Splice_Site_p.G230E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	230	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443																																						ENST00000409807.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(688-690)gGa>gAa		four and a half LIM domains 2							86.0	75.0	79.0					2																	105977891		2203	4300	6503	SO:0001630	splice_region_variant	2274	0	0					g.chr2:105977891C>T		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.689-1G>A	chr2.hg19:g.105977891C>T		1					FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000344213.4_Splice_Site_p.G340E|FHL2_ENST00000358129.4_Splice_Site_p.G230E|FHL2_ENST00000393353.3_Splice_Site_p.G230E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Splice_Site_p.G230E|FHL2_ENST00000409177.1_Splice_Site_p.G346E|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Splice_Site_p.G230E	p.G230E			1	2	3	2.195803	Q14192	FHL2_HUMAN		6	1023	-			Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Splice_Site	SNP	ENST00000409807.1	1	0	hg19	c.689G>A	CCDS2070.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238043	0.95240	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T;T;T;T;T;T;T;T	0.61158	0.2;0.13;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.052402	0.85682	D	0.000000	T	0.74313	0.3700	L	0.60067	1.865	0.80722	D	1	P;P;D;P	0.76494	0.698;0.92;0.999;0.698	P;P;D;P	0.81914	0.58;0.742;0.995;0.58	T	0.76195	-0.3048	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	230;230;340;230	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	230;340;230;230;230;230;230;230	ENSP00000386892:G230E;ENSP00000344266:G340E;ENSP00000377021:G230E;ENSP00000377020:G230E;ENSP00000322909:G230E;ENSP00000350846:G230E;ENSP00000386665:G230E;ENSP00000386633:G230E	ENSP00000322909:G230E	G	-	2	0	0	FHL2	105344323	105344323	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	5.914000	0.69964	2.634000	0.89283	0.650000	0.86243	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		56	55		303	298	1		1	1		0	0	60	0		1	1	0	27	0	656	0	56	303
NCK2	8440	broad.mit.edu	37	2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|AC009505.2_ENST00000598281.1_RNA|AC009505.2_ENST00000596418.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	3	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|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 epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483																																						ENST00000233154.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				5						c.(7-9)Gaa>Aaa		NCK adaptor protein 2							79.0	80.0	80.0					2																	106471526		2203	4300	6503	SO:0001583	missense	8440	0	0					g.chr2:106471526G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.7G>A	chr2.hg19:g.106471526G>A	ENSP00000233154:p.Glu3Lys	1					NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K	p.E3K	NM_003581.4	NP_003572.2	1	2	3	2.195803	O43639	NCK2_HUMAN		3	449	+			D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	1	1	hg19	c.7G>A	CCDS33266.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.565474	0.96527	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.73152	-0.72;1.72;1.47;1.72;1.46;-0.72	5.84	5.84	0.93424	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.35854	1.095	0.80722	D	1	D;P	0.67145	0.996;0.944	P;P	0.60286	0.872;0.581	T	0.78897	-0.2023	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	3;3	E7ERP6;O43639	.;NCK2_HUMAN	K	3	ENSP00000233154:E3K;ENSP00000410428:E3K;ENSP00000377017:E3K;ENSP00000431109:E3K;ENSP00000408040:E3K;ENSP00000377018:E3K	ENSP00000233154:E3K	E	+	1	0	0	NCK2	105837958	105837958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.325040	1	0.170000	NM_003581			34	34		203	200	1		1	1		0	0	48	0		1	1	0	27	0	151	0	34	203
NCK2	8440	broad.mit.edu	37	2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	298	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|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 epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672																																						ENST00000233154.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.985666	0.990000	1.000000																										0				5						c.(892-894)Gcc>Acc		NCK adaptor protein 2							23.0	26.0	25.0					2																	106498449		2203	4294	6497	SO:0001583	missense	8440	0	0					g.chr2:106498449G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.892G>A	chr2.hg19:g.106498449G>A	ENSP00000233154:p.Ala298Thr	1					NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T|NCK2_ENST00000522586.1_Intron	p.A298T	NM_003581.4	NP_003572.2	1	2	3	2.195803	O43639	NCK2_HUMAN		4	1334	+			D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	1	1	hg19	c.892G>A	CCDS33266.1	1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147208	0.57151	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	5.36	5.36	0.76844	SH2 motif (5);	0.158749	0.53938	D	0.000046	T	0.58293	0.2112	L	0.37507	1.11	0.80722	D	1	P	0.39060	0.657	B	0.39840	0.311	T	0.61143	-0.7122	10	0.52906	T	0.07	-20.2399	19.4433	0.94836	0.0:0.0:1.0:0.0	.	298	O43639	NCK2_HUMAN	T	298	ENSP00000233154:A298T;ENSP00000377018:A298T	ENSP00000233154:A298T	A	+	1	0	0	NCK2	105864881	105864881	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.867000	0.63013	2.681000	0.91329	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_003581			24	24		226	222	1		1	1		0	0	31	0		9.999997e-01	9.999988e-01	0	25	0	194	0	24	226
NCK2	8440	broad.mit.edu	37	2	106509467	106509467	+	Silent	SNP	G	G	A	rs372072439		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	326	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|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 epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14992	0.0		0.0	False		,,,				2504	0.0					ENST00000233154.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(976-978)gcG>gcA		NCK adaptor protein 2		G	,,	0,4406		0,0,2203	96.0	85.0	88.0		978,,978	-3.8	0.9	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	326/381,,326/381	106509467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8440	3	121412	38				g.chr2:106509467G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.978G>A	chr2.hg19:g.106509467G>A		1					NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A|NCK2_ENST00000522586.1_3'UTR	p.A326A	NM_003581.4	NP_003572.2	1	2	3	2.195803	O43639	NCK2_HUMAN		5	1420	+			D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	1	1	hg19	c.978G>A	CCDS33266.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_003581			86	85		233	228	1		1	1		0	0	79	0		1	1	0	49	0	161	0	86	233
C2orf40	84417	broad.mit.edu	37	2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000238044.3	+	3	264	c.155C>T	c.(154-156)gCc>gTc	p.A52V	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.A16V	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522																																						ENST00000238044.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(154-156)gCc>gTc		chromosome 2 open reading frame 40							128.0	142.0	137.0					2																	106690369		2203	4300	6503	SO:0001583	missense	84417	1	121412	36				g.chr2:106690369C>T	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.155C>T	chr2.hg19:g.106690369C>T	ENSP00000238044:p.Ala52Val	1					C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.A16V	p.A52V	NM_032411.2	NP_115787.1	1	2	3	2.195803	Q9H1Z8	AUGN_HUMAN		3	264	+			D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	1	1	hg19	c.155C>T	CCDS2072.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591305	0.46214	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.54479	0.57;0.57;0.57	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.116585	0.64402	D	0.000016	T	0.62036	0.2395	L	0.51422	1.61	0.40866	D	0.983874	P	0.49559	0.925	P	0.52159	0.691	T	0.63042	-0.6725	10	0.52906	T	0.07	-18.6853	19.6614	0.95875	0.0:1.0:0.0:0.0	.	52	Q9H1Z8	AUGN_HUMAN	V	16;52;54	ENSP00000386421:A16V;ENSP00000238044:A52V;ENSP00000388664:A54V	ENSP00000238044:A52V	A	+	2	0	0	C2orf40	106056801	106056801	0.991000	0.36638	0.932000	0.37286	0.105000	0.19272	3.048000	0.49862	2.633000	0.89246	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	1	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-20.000000	1	0.170000	NM_032411			143	141		844	833	1		1	0		0	0	184	0		1	5.827539e-01	0	0	0	13	0	143	844
C2orf40	84417	broad.mit.edu	37	2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000238044.3	+	4	471	c.362G>A	c.(361-363)cGt>cAt	p.R121H	C2orf40_ENST00000409944.1_Missense_Mutation_p.R85H	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	121					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453																																						ENST00000238044.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(361-363)cGt>cAt		chromosome 2 open reading frame 40							162.0	141.0	148.0					2																	106694297		2203	4300	6503	SO:0001583	missense	84417	1	121412	29				g.chr2:106694297G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.362G>A	chr2.hg19:g.106694297G>A	ENSP00000238044:p.Arg121His	1					C2orf40_ENST00000409944.1_Missense_Mutation_p.R85H	p.R121H	NM_032411.2	NP_115787.1	1	2	3	2.195803	Q9H1Z8	AUGN_HUMAN		4	471	+			D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	1	1	hg19	c.362G>A	CCDS2072.1	1	.	.	.	.	.	.	.	.	.	.	G	4.996	0.184997	0.09495	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.39997	1.05;1.05;1.05	5.31	4.44	0.53790	5.31	4.44	0.53790	.	0.055536	0.64402	D	0.000001	T	0.21227	0.0511	N	0.16656	0.425	0.35120	D	0.76693	B	0.14012	0.009	B	0.13407	0.009	T	0.17992	-1.0351	10	0.07813	T	0.8	-8.5573	6.519	0.22264	0.3126:0.0:0.6874:0.0	.	121	Q9H1Z8	AUGN_HUMAN	H	85;121;123	ENSP00000386421:R85H;ENSP00000238044:R121H;ENSP00000388664:R123H	ENSP00000238044:R121H	R	+	2	0	0	C2orf40	106060729	106060729	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.886000	0.56190	1.231000	0.43661	0.591000	0.81541	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_032411			109	107		314	309	1		1	0		0	0	87	0		1	9.894148e-01	0	1	0	22	0	109	314
UXS1	80146	broad.mit.edu	37	2	106739525	106739525	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000409501.3	-	9	702	c.645T>C	c.(643-645)agT>agC	p.S215S	UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000409032.1_Silent_p.S47S|UXS1_ENST00000283148.7_Silent_p.S220S|UXS1_ENST00000428048.2_Silent_p.S59S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	215					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)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453																																						ENST00000409501.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(643-645)agT>agC		UDP-glucuronate decarboxylase 1							121.0	119.0	120.0					2																	106739525		1939	4131	6070	SO:0001819	synonymous_variant	80146	0	0					g.chr2:106739525A>G	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.645T>C	chr2.hg19:g.106739525A>G		1					UXS1_ENST00000409032.1_Silent_p.S47S|UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000283148.7_Silent_p.S220S|UXS1_ENST00000540130.1_Silent_p.S158S	p.S215S			1	2	3	2.195803	Q8NBZ7	UXS1_HUMAN		9	702	-			Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	1	1	hg19	c.645T>C	CCDS46378.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_025076.3			73	71		340	334	0		1	1		0	0	94	0		1	1	0	33	0	117	0	73	340
NOL10	79954	broad.mit.edu	37	2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000381685.5	-	21	2134	c.2029C>A	c.(2029-2031)Ctg>Atg	p.L677M	NOL10_ENST00000542668.1_Missense_Mutation_p.L627M|NOL10_ENST00000538384.1_Missense_Mutation_p.L651M|NOL10_ENST00000345985.3_Missense_Mutation_p.L627M	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473																																						ENST00000381685.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(2029-2031)Ctg>Atg		nucleolar protein 10							280.0	247.0	258.0					2																	10712235		2203	4300	6503	SO:0001583	missense	79954	0	0					g.chr2:10712235G>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2029C>A	chr2.hg19:g.10712235G>T	ENSP00000371101:p.Leu677Met	1					NOL10_ENST00000538384.1_Missense_Mutation_p.L651M|NOL10_ENST00000345985.3_Missense_Mutation_p.L627M|NOL10_ENST00000542668.1_Missense_Mutation_p.L627M	p.L677M	NM_024894.3	NP_079170.2	1	2	3	2.183349	Q9BSC4	NOL10_HUMAN		21	2134	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	1	1	hg19	c.2029C>A	CCDS1673.2	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617780	0.66787	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.51071	0.72;1.36;1.36;1.36	5.75	4.87	0.63330	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.74258	2.255	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.97;0.97;0.976	T	0.67711	-0.5600	10	0.49607	T	0.09	-12.1252	11.6934	0.51529	0.1419:0.0:0.8581:0.0	.	651;677;627	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	M	627;677;627;651	ENSP00000263837:L627M;ENSP00000371101:L677M;ENSP00000437625:L627M;ENSP00000439663:L651M	ENSP00000263837:L627M	L	-	1	2	2	NOL10	10629686	10629686	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.564000	0.45931	1.420000	0.47138	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_024894			308	304		857	837	1		1	1		0	0	157	0		1	1	0	107	0	167	0	308	857
UXS1	80146	broad.mit.edu	37	2	106781241	106781241	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000409501.3	-	3	180		c.e3-1		UXS1_ENST00000540130.1_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.R46M|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						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)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGGATAGACCTGTTGAGTAG	0.328																																						ENST00000409501.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999120	0.990000	1.000000																										0				17						c.e3-1		UDP-glucuronate decarboxylase 1							76.0	74.0	75.0					2																	106781241		1836	4072	5908	SO:0001630	splice_region_variant	80146	0	0					g.chr2:106781241C>A	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.123-1G>T	chr2.hg19:g.106781241C>A		1					UXS1_ENST00000428048.2_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.R46M|UXS1_ENST00000540130.1_Intron				1	2	3	2.195803	Q8NBZ7	UXS1_HUMAN		3	180	-			Q8NBX3|Q9H5C2	Splice_Site	SNP	ENST00000409501.3	0	1	hg19		CCDS46378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.74|19.74	3.883523|3.883523	0.72410|0.72410	.|.	.|.	ENSG00000115652|ENSG00000115652	ENST00000409501|ENST00000283148	.|D	.|0.96396	.|-4.0	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94941	.|0.8364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36315	.|0.547	.|B	.|0.37346	.|0.247	.|D	.|0.94890	.|0.8047	.|9	.|0.62326	.|D	.|0.03	.|-12.3826	16.61|16.61	0.84880|0.84880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|46	.|Q8NBZ7-2	.|.	.|M	-1|46	.|ENSP00000283148:R46M	.|ENSP00000283148:R46M	.|R	-|-	.|2	.|0	.|0	UXS1|UXS1	106147673|106147673	106147673|106147673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.292000|5.292000	0.65673|0.65673	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	.|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-16.924800	1	0.170000	NM_025076.3	Intron		8	8		31	31	1		1	0		0	0	11	0		9.920095e-01	7.390063e-01	0	0	0	12	0	8	31
ST6GAL2	84620	broad.mit.edu	37	2	107459861	107459861	+	Silent	SNP	G	G	A	rs146192357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107459861G>A	ENST00000409382.3	-	2	1183	c.573C>T	c.(571-573)gaC>gaT	p.D191D	ST6GAL2_ENST00000409087.3_Silent_p.D191D|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.D191D	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	191					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCTGTCGCCGTCGTCGCCCT	0.637																																						ENST00000409382.3	0.750000	0.350000	6.400000e-01	4.300000e-01	0.530000	0.543817	0.530000	0.520000																										0				65						c.(571-573)gaC>gaT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							88.0	87.0	88.0					2																	107459861		2203	4300	6503	SO:0001819	synonymous_variant	84620	317	121412	57				g.chr2:107459861G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.573C>T	chr2.hg19:g.107459861G>A		1					ST6GAL2_ENST00000409087.3_Silent_p.D191D|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.D191D	p.D191D	NM_001142351.1	NP_001135823.1	1	2	3	2.195803	Q96JF0	SIAT2_HUMAN		2	1183	-			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	1	0	hg19	c.573C>T	CCDS2073.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-4.555259	1	0.170000	NM_032528			25	26		580	575	0		1	0		0	0	87	0		9.999998e-01	0	0	0	0	1	0	25	580
SLC5A7	60482	broad.mit.edu	37	2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	117					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)			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)	ATGTTAGACCCGTTTCAGCAA	0.423																																						ENST00000264047.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(349-351)cCg>cTg		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						148.0	148.0	148.0					2																	108609485		2203	4300	6503	SO:0001583	missense	60482	0	0					g.chr2:108609485C>T	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.350C>T	chr2.hg19:g.108609485C>T	ENSP00000264047:p.Pro117Leu	1					SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	p.P117L	NM_021815.2	NP_068587.1	1	2	3	2.195803	Q9GZV3	SC5A7_HUMAN		4	626	+			Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	1	1	hg19	c.350C>T	CCDS2074.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.509118	0.96386	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86030	-2.06;-2.06;-2.06	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93150	0.6549	10	0.34782	T	0.22	-2.5788	20.8598	0.99761	0.0:1.0:0.0:0.0	.	117	Q9GZV3	SC5A7_HUMAN	L	117;12;117	ENSP00000387346:P117L;ENSP00000445351:P12L;ENSP00000264047:P117L	ENSP00000264047:P117L	P	+	2	0	0	SLC5A7	107975917	107975917	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	0		2	2	2	0		0	0	98		98	96	1	2.060000	-6.892112	1	0.170000				182	178		510	502	1		1			0	0	98	0		1	0	0	0	0	0	0	182	510
SLC5A7	60482	broad.mit.edu	37	2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	293					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)			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)	CTCATTGGGGCCATTGGAGCA	0.537																																						ENST00000264047.2	1.000000	0.650000	1	7.700000e-01	0.910000	0.896160	0.910000	1.000000																										0				49						c.(877-879)gCc>gAc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						101.0	94.0	96.0					2																	108622641		2203	4300	6503	SO:0001583	missense	60482	0	0					g.chr2:108622641C>A	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.878C>A	chr2.hg19:g.108622641C>A	ENSP00000264047:p.Ala293Asp	1					SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	p.A293D	NM_021815.2	NP_068587.1	1	2	3	2.195803	Q9GZV3	SC5A7_HUMAN		7	1154	+			Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	1	1	hg19	c.878C>A	CCDS2074.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023063	0.75275	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95437	0.8522	10	0.45353	T	0.12	-21.0254	19.8703	0.96847	0.0:1.0:0.0:0.0	.	293	Q9GZV3	SC5A7_HUMAN	D	293;188;293	ENSP00000387346:A293D;ENSP00000445351:A188D;ENSP00000264047:A293D	ENSP00000264047:A293D	A	+	2	0	0	SLC5A7	107989073	107989073	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-3.221883	1	0.170000				37	34		482	470	0		1			0	0	74	0		1	0	0	0	0	0	0	37	482
SLC5A7	60482	broad.mit.edu	37	2	108626966	108626966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	464					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)			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)	TCTACCCTGGCTATTACCCTG	0.418																																						ENST00000264047.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1390-1392)ggC>ggT		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						110.0	108.0	108.0					2																	108626966		2203	4300	6503	SO:0001819	synonymous_variant	60482	0	0					g.chr2:108626966C>T	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.1392C>T	chr2.hg19:g.108626966C>T		1					SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	p.G464G	NM_021815.2	NP_068587.1	1	2	3	2.195803	Q9GZV3	SC5A7_HUMAN		9	1668	+			Q53TF2	Silent	SNP	ENST00000264047.2	1	1	hg19	c.1392C>T	CCDS2074.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-20.000000	1	0.170000				73	71		425	416	1		1	0		0	0	75	0		1	0	0	0	0	1	0	73	425
SULT1C4	27233	broad.mit.edu	37	2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	113	Substrate binding. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388																																						ENST00000272452.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(337-339)aAa>aGa		sulfotransferase family, cytosolic, 1C, member 4							255.0	240.0	245.0					2																	108998883		2203	4300	6503	SO:0001583	missense	27233	0	0					g.chr2:108998883A>G	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.338A>G	chr2.hg19:g.108998883A>G	ENSP00000272452:p.Lys113Arg	1					SULT1C4_ENST00000409309.3_Intron	p.K113R	NM_006588.2	NP_006579.2	1	2	3	2.195803	O75897	ST1C4_HUMAN		3	664	+			Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	1	1	hg19	c.338A>G	CCDS2077.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630609	0.87660	.	.	ENSG00000198075	ENST00000272452	T	0.02763	4.17	4.44	4.44	0.53790	4.44	4.44	0.53790	Sulfotransferase domain (1);	0.000000	0.53938	D	0.000055	T	0.10766	0.0263	M	0.76938	2.355	0.80722	D	1	P	0.47191	0.891	P	0.53988	0.739	T	0.01039	-1.1472	10	0.49607	T	0.09	.	13.3112	0.60380	1.0:0.0:0.0:0.0	.	113	O75897	ST1C4_HUMAN	R	113	ENSP00000272452:K113R	ENSP00000272452:K113R	K	+	2	0	0	SULT1C4	108365315	108365315	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.839000	0.62810	1.986000	0.57962	0.496000	0.49642	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	1	0	1		2	2	2	0		0	0	232		232	230	1	2.060000	-20.000000	1	0.170000	NM_006588			235	231		1093	1075	1		1	0		0	0	232	0		1	0	0	0	0	1	0	235	1093
GCC2	9648	broad.mit.edu	37	2	109088536	109088536	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	917					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284																																						ENST00000309863.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2749-2751)gaA>gaG		GRIP and coiled-coil domain containing 2							40.0	44.0	43.0					2																	109088536		2157	4260	6417	SO:0001819	synonymous_variant	9648	0	0					g.chr2:109088536A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2751A>G	chr2.hg19:g.109088536A>G		1						p.E917E	NM_181453.3	NP_852118	1	2	3	2.195803	Q8IWJ2	GCC2_HUMAN		6	3465	+			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	1	1	hg19	c.2751A>G	CCDS33268.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_014635			71	69		237	232	1		1	1		0	0	74	0		1	1	0	32	0	132	0	71	237
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Silent	SNP	C	C	T	rs574141383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000272238.4	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.F174F	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					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)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21465	0.0		0.0	False		,,,				2504	0.001				NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.F174L(2)	lung(2)	19						c.(520-522)ttC>ttT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							192.0	177.0	182.0					2																	10912016		2203	4300	6503	SO:0001819	synonymous_variant	245973	1	121412	33				g.chr2:10912016C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.522C>T	chr2.hg19:g.10912016C>T		1					ATP6V1C2_ENST00000381661.3_Silent_p.F174F|RP11-791G15.2_ENST00000606907.1_lincRNA	p.F174F	NM_001039362.1	NP_001034451.1	1	2	3	2.183349	Q8NEY4	VATC2_HUMAN		7	631	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Q96EL8	Silent	SNP	ENST00000272238.4	1	1	hg19	c.522C>T	CCDS42653.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-7.753162	1	0.170000	NM_144583			240	236		707	697	1		1	1		0	0	123	0		1	7.632801e-01	0	7	0	3	0	240	707
ATP6V1C2	245973	broad.mit.edu	37	2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000272238.4	+	12	1126	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.W293C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	339					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)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1015-1017)tgG>tgT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							135.0	123.0	127.0					2																	10918751		2203	4300	6503	SO:0001583	missense	245973	0	0					g.chr2:10918751G>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1017G>T	chr2.hg19:g.10918751G>T	ENSP00000272238:p.Trp339Cys	1					ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.W293C	p.W339C	NM_001039362.1	NP_001034451.1	1	2	3	2.183349	Q8NEY4	VATC2_HUMAN		12	1126	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	1	1	hg19	c.1017G>T	CCDS42653.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419227	0.83559	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51325	0.71;0.71	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.89601	3.045	0.80722	D	1	B;D	0.76494	0.172;0.999	B;D	0.70935	0.19;0.971	T	0.80120	-0.1515	10	0.72032	D	0.01	-8.0036	19.9204	0.97084	0.0:0.0:1.0:0.0	.	293;339	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	339;293	ENSP00000272238:W339C;ENSP00000371077:W293C	ENSP00000272238:W339C	W	+	3	0	0	ATP6V1C2	10836202	10836202	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.773000	0.98989	2.721000	0.93114	0.491000	0.48974	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_144583			92	88		320	317	1		1	1		0	0	85	0		1	2.203587e-01	0	3	0	1	0	92	320
PDIA6	10130	broad.mit.edu	37	2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000272227.3	-	6	670	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000404371.2_Missense_Mutation_p.L227M|PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	175	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398																																					GBM(73;509 1219 34219 41343 41551)	ENST00000272227.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(523-525)Ctg>Atg		protein disulfide isomerase family A, member 6							280.0	207.0	232.0					2																	10931982		2203	4300	6503	SO:0001583	missense	10130	0	0					g.chr2:10931982G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.523C>A	chr2.hg19:g.10931982G>T	ENSP00000272227:p.Leu175Met	1					PDIA6_ENST00000404371.2_Missense_Mutation_p.L227M|PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M	p.L175M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	1	2	3	2.183349	Q15084	PDIA6_HUMAN		6	670	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	1	1	hg19	c.523C>A	CCDS1675.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845266	0.51164	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.63	5.63	0.86233	5.63	5.63	0.86233	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.062970	0.64402	D	0.000003	T	0.14527	0.0351	M	0.67700	2.07	0.80722	D	1	B;B;B;P	0.40476	0.313;0.197;0.079;0.718	P;B;P;P	0.61132	0.579;0.397;0.448;0.884	T	0.00007	-1.2496	10	0.66056	D	0.02	.	10.7576	0.46245	0.0694:0.0:0.7977:0.1329	.	172;223;227;175	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	175;227;223;172;180	ENSP00000272227:L175M;ENSP00000385385:L227M;ENSP00000384459:L223M;ENSP00000438778:L172M;ENSP00000371024:L180M	ENSP00000272227:L175M	L	-	1	2	2	PDIA6	10849433	10849433	0.988000	0.35896	0.552000	0.28243	0.471000	0.32888	1.670000	0.37502	2.826000	0.97356	0.655000	0.94253	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_005742			108	108		270	269	1		1	1	0	0	0	56	1		1	1	0	904	1	1382	0	108	270
GCC2	9648	broad.mit.edu	37	2	109109236	109109236	+	Silent	SNP	G	G	A	rs73954367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109109236G>A	ENST00000309863.6	+	19	5151	c.4437G>A	c.(4435-4437)ccG>ccA	p.P1479P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1479					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAATGAACCGACCACAAGAA	0.378																																						ENST00000309863.6	1.000000	0.460000	1	6.200000e-01	0.800000	0.803754	0.800000	1.000000																										0				54						c.(4435-4437)ccG>ccA		GRIP and coiled-coil domain containing 2							87.0	86.0	86.0					2																	109109236		2203	4300	6503	SO:0001819	synonymous_variant	9648	635	121412	58				g.chr2:109109236G>A	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.4437G>A	chr2.hg19:g.109109236G>A		1						p.P1479P	NM_181453.3	NP_852118	1	2	3	2.195803	Q8IWJ2	GCC2_HUMAN		19	5151	+			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	1	0	hg19	c.4437G>A	CCDS33268.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.315569	1	0.170000	NM_014635			14	14		211	208	0		1	1		0	0	40	0		9.997611e-01	9.993101e-01	0	13	0	177	0	14	211
RANBP2	5903	broad.mit.edu	37	2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	196					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGAACATAGCTTTGCGTTC	0.433																																						ENST00000283195.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									RANBP2/ALK(34)	0				129						c.(586-588)Gct>Tct		RAN binding protein 2							225.0	257.0	245.0					2																	109352168		1355	2296	3651	SO:0001583	missense	5903	0	0					g.chr2:109352168G>T	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.586G>T	chr2.hg19:g.109352168G>T	ENSP00000283195:p.Ala196Ser	1						p.A196S	NM_006267.4	NP_006258.3	1	2	3	2.195803	P49792	RBP2_HUMAN		5	712	+			Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	1	1	hg19	c.586G>T	CCDS2079.1	1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974458	0.53720	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.0	5.0	0.66597	5.0	5.0	0.66597	.	.	.	.	.	T	0.30262	0.0759	M	0.61703	1.905	0.23661	N	0.997177	B	0.21381	0.055	B	0.18561	0.022	T	0.12656	-1.0539	9	0.21014	T	0.42	-13.8792	10.8541	0.46789	0.0:0.1481:0.7165:0.1353	.	196	P49792	RBP2_HUMAN	S	196	ENSP00000283195:A196S	ENSP00000283195:A196S	A	+	1	0	0	RANBP2	108718600	108718600	0.001000	0.12720	0.925000	0.36789	0.967000	0.64934	0.027000	0.13621	2.498000	0.84270	0.455000	0.32223	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	0	1		9	2	2	0		0	1	432		432	467	1	2.060000	-20.000000	1	0.170000	NM_006267			460	235		1216	636	1		1	1		0	0	432	0		1	9.996259e-01	0	3	0	30	0	460	1216
RANBP2	5903	broad.mit.edu	37	2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGGAATCCGAAAATGGCT	0.388																																						ENST00000283195.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									RANBP2/ALK(34)	0				129						c.(1360-1362)Cga>Tga		RAN binding protein 2							45.0	51.0	49.0					2																	109367806		1508	2702	4210	SO:0001587	stop_gained	5903	0	0					g.chr2:109367806C>T	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.1360C>T	chr2.hg19:g.109367806C>T	ENSP00000283195:p.Arg454*	1						p.R454*	NM_006267.4	NP_006258.3	1	2	3	2.195803	P49792	RBP2_HUMAN		10	1486	+			Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	0	1	hg19	c.1360C>T	CCDS2079.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.129996	0.98085	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.97	4.09	0.47781	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3898	15.8284	0.78733	0.0:0.8639:0.1361:0.0	.	.	.	.	X	454	.	ENSP00000283195:R454X	R	+	1	2	2	RANBP2	108734238	108734238	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.491000	0.45303	1.211000	0.43351	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	1		2	2	2	0		0	0	195		195	249	1	2.060000	-6.409076	1	0.170000	NM_006267			196	51		603	163	0		1	0		0	0	195	0		1	9.891126e-01	0	1	0	23	0	196	603
RANBP2	5903	broad.mit.edu	37	2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACTTTCCATGGTCCAGGGAAA	0.423																																						ENST00000283195.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									RANBP2/ALK(34)	0				129						c.(3406-3408)gGt>gAt		RAN binding protein 2							84.0	85.0	85.0					2																	109380402		2203	4299	6502	SO:0001583	missense	5903	0	0					g.chr2:109380402G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3407G>A	chr2.hg19:g.109380402G>A	ENSP00000283195:p.Gly1136Asp	1						p.G1136D	NM_006267.4	NP_006258.3	1	2	3	2.195803	P49792	RBP2_HUMAN		20	3533	+			Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	1	1	hg19	c.3407G>A	CCDS2079.1	1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442717	0.25987	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.44	4.55	0.56014	5.44	4.55	0.56014	.	.	.	.	.	T	0.24160	0.0585	L	0.38953	1.18	0.19775	N	0.999955	B	0.10296	0.003	B	0.08055	0.003	T	0.05131	-1.0904	9	0.48119	T	0.1	-13.12	8.3245	0.32149	0.1773:0.0:0.8227:0.0	.	1136	P49792	RBP2_HUMAN	D	1136	ENSP00000283195:G1136D	ENSP00000283195:G1136D	G	+	2	0	0	RANBP2	108746834	108746834	0.832000	0.29368	0.996000	0.52242	0.199000	0.23934	3.153000	0.50685	2.537000	0.85549	0.557000	0.71058	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	0	0		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_006267			118	115		561	545	1		1	1		0	0	121	0		1	9.999998e-01	0	36	0	67	0	118	561
RANBP2	5903	broad.mit.edu	37	2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2078	RanBD1 2. {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)		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						GATGCGAAGAGAACAAGTACT	0.423																																						ENST00000283195.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									RANBP2/ALK(34)	0				129						c.(6232-6234)Gaa>Taa		RAN binding protein 2							202.0	218.0	213.0					2																	109383227		2202	4291	6493	SO:0001587	stop_gained	5903	0	0					g.chr2:109383227G>T	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.6232G>T	chr2.hg19:g.109383227G>T	ENSP00000283195:p.Glu2078*	1						p.E2078*	NM_006267.4	NP_006258.3	1	2	3	2.195803	P49792	RBP2_HUMAN		20	6358	+			Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	0	1	hg19	c.6232G>T	CCDS2079.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.207144	0.99727	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.982	19.718	0.96131	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;2078	.	ENSP00000283195:E2078X	E	+	1	0	0	RANBP2	108749659	108749659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.653000	0.90120	0.557000	0.71058	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	1		2	2	2	0		0	0	425		425	505	1	2.060000	-20.000000	1	0.170000	NM_006267			506	411		1414	1190	0		1	1		0	0	425	0		1	1	0	7	0	84	0	506	1414
RANBP2	5903	broad.mit.edu	37	2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAGAAGGCAAAAGCAGATAC	0.353																																						ENST00000283195.6	1.000000	0.720000	1	9.100000e-01	0.990000	0.966074	0.990000	1.000000																									RANBP2/ALK(34)	0				129						c.(8173-8175)Aaa>Caa		RAN binding protein 2							97.0	90.0	92.0					2																	109389383		2203	4300	6503	SO:0001583	missense	5903	0	0					g.chr2:109389383A>C	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.8173A>C	chr2.hg19:g.109389383A>C	ENSP00000283195:p.Lys2725Gln	1						p.K2725Q	NM_006267.4	NP_006258.3	1	2	3	2.195803	P49792	RBP2_HUMAN		23	8299	+			Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	1	1	hg19	c.8173A>C	CCDS2079.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213182	0.79352	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31769	1.48	5.98	5.98	0.97165	5.98	5.98	0.97165	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.29061	0.0722	N	0.24115	0.695	0.25469	N	0.987849	D	0.54772	0.968	P	0.50934	0.654	T	0.11717	-1.0576	9	0.23302	T	0.38	-28.6269	11.4836	0.50339	0.9287:0.0:0.0713:0.0	.	2725	P49792	RBP2_HUMAN	Q	1749;2725	ENSP00000283195:K2725Q	ENSP00000283195:K2725Q	K	+	1	0	0	RANBP2	108755815	108755815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.793000	0.62474	2.289000	0.77006	0.482000	0.46254	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-8.102389	1	0.170000	NM_006267			19	18		195	187	0		1	1		0	0	36	0		9.999891e-01	9.999825e-01	0	7	0	188	0	19	195
CCDC138	165055	broad.mit.edu	37	2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373																																						ENST00000295124.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1600-1602)gCt>gAt		coiled-coil domain containing 138							155.0	160.0	158.0					2																	109473334		2203	4300	6503	SO:0001583	missense	165055	0	0					g.chr2:109473334C>A	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.1601C>A	chr2.hg19:g.109473334C>A	ENSP00000295124:p.Ala534Asp	1					CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	p.A534D	NM_144978.1	NP_659415.1	1	2	3	2.195803	Q96M89	CC138_HUMAN		13	1661	+			Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	1	1	hg19	c.1601C>A	CCDS2080.1	1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735870	0.69189	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.46451	0.87;0.92	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.137949	0.47852	D	0.000207	T	0.64136	0.2571	M	0.69823	2.125	0.40120	D	0.976589	D;D	0.89917	0.992;1.0	P;D	0.76575	0.9;0.988	T	0.67971	-0.5532	10	0.87932	D	0	-11.4975	15.6841	0.77396	0.0:0.8627:0.1373:0.0	.	534;534	Q96M89-2;Q96M89	.;CC138_HUMAN	D	534	ENSP00000411800:A534D;ENSP00000295124:A534D	ENSP00000295124:A534D	A	+	2	0	0	CCDC138	108839766	108839766	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	3.941000	0.56607	2.605000	0.88082	0.591000	0.81541	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_144978			182	181		510	506	1		1	1		0	0	143	0		1	6.637690e-01	0	5	0	3	0	182	510
EDAR	10913	broad.mit.edu	37	2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000258443.2	-	10	1278	c.848G>T	c.(847-849)aGc>aTc	p.S283I	EDAR_ENST00000409271.1_Missense_Mutation_p.S315I|EDAR_ENST00000376651.1_Missense_Mutation_p.S315I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	283					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632																																						ENST00000258443.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(847-849)aGc>aTc		ectodysplasin A receptor							37.0	39.0	38.0					2																	109524431		2203	4300	6503	SO:0001583	missense	10913	0	0					g.chr2:109524431C>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.848G>T	chr2.hg19:g.109524431C>A	ENSP00000258443:p.Ser283Ile	1					EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000409271.1_Missense_Mutation_p.S315I	p.S283I	NM_022336.3	NP_071731.1	1	2	3	2.195803	Q9UNE0	EDAR_HUMAN		10	1278	-			B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	1	1	hg19	c.848G>T	CCDS2081.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641763	0.67244	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94650	-3.48;-3.29;-3.48	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.114476	0.85682	D	0.000000	D	0.97185	0.9080	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.97461	1.0034	10	0.87932	D	0	-30.4742	19.7084	0.96083	0.0:1.0:0.0:0.0	.	315;283	E9PC98;Q9UNE0	.;EDAR_HUMAN	I	315;283;315	ENSP00000386371:S315I;ENSP00000258443:S283I;ENSP00000365839:S315I	ENSP00000258443:S283I	S	-	2	0	0	EDAR	108890863	108890863	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	7.209000	0.77916	2.648000	0.89879	0.561000	0.74099	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				81	81		189	185	1		1	1		0	0	46	0		1	7.436494e-01	0	7	0	1	0	81	189
SH3RF3	344558	broad.mit.edu	37	2	109964294	109964294	+	Silent	SNP	C	C	T	rs370737025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	246	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562																																						ENST00000309415.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(736-738)agC>agT		SH3 domain containing ring finger 3							50.0	57.0	55.0					2																	109964294		2134	4237	6371	SO:0001819	synonymous_variant	344558	0	0					g.chr2:109964294C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.738C>T	chr2.hg19:g.109964294C>T		1						p.S246S	NM_001099289.1	NP_001092759.1	1	2	3	2.195803	Q8TEJ3	SH3R3_HUMAN		2	738	+			A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	1	1	hg19	c.738C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_001099289			48	47		109	105	1		1	0		0	0	28	0		1	9.994700e-01	0	1	0	29	0	48	109
SH3RF3	344558	broad.mit.edu	37	2	110036048	110036048	+	Silent	SNP	G	G	A	rs373793838		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110036048G>A	ENST00000309415.6	+	5	1353	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	451							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTGCCTCGGTGTCTGGAG	0.642																																						ENST00000309415.6	1.000000	0.400000	1	6.900000e-01	0.990000	0.893964	0.990000	1.000000																										0				18						c.(1351-1353)tcG>tcA		SH3 domain containing ring finger 3							30.0	35.0	33.0					2																	110036048		2055	4205	6260	SO:0001819	synonymous_variant	344558	5	120728	31				g.chr2:110036048G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1353G>A	chr2.hg19:g.110036048G>A		1						p.S451S	NM_001099289.1	NP_001092759.1	1	2	3	2.195803	Q8TEJ3	SH3R3_HUMAN		5	1353	+			A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	0	1	hg19	c.1353G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-8.985604	1	0.170000	NM_001099289			4	4		44	44	0		1	0		0	0	11	0		8.932228e-01	7.803559e-01	0	0	0	33	0	4	44
SH3RF3	344558	broad.mit.edu	37	2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A	rs199983346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	629							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13955	0.0		0.001	False		,,,				2504	0.0					ENST00000309415.6	1.000000	0.600000	1	8.200000e-01	0.990000	0.936377	0.990000	1.000000																										0				18						c.(1885-1887)cGc>cAc		SH3 domain containing ring finger 3		G	HIS/ARG	2,4320		0,2,2159	21.0	29.0	27.0		1886	5.2	1.0	2		27	0,8500		0,0,4250	yes	missense	SH3RF3	NM_001099289.1	29	0,2,6409	AA,AG,GG		0.0,0.0463,0.0156	probably-damaging	629/883	110065683	2,12820	2161	4250	6411	SO:0001583	missense	344558	13	121182	38				g.chr2:110065683G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1886G>A	chr2.hg19:g.110065683G>A	ENSP00000309186:p.Arg629His	1						p.R629H	NM_001099289.1	NP_001092759.1	1	2	3	2.195803	Q8TEJ3	SH3R3_HUMAN		8	1886	+			A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	0	1	hg19	c.1886G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557727	0.65425	4.63E-4	0.0	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58940	0.3;2.08	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.053596	0.85682	D	0.000000	T	0.67795	0.2931	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	P	0.56088	0.791	T	0.64011	-0.6507	9	0.30078	T	0.28	-29.9474	18.8174	0.92081	0.0:0.0:1.0:0.0	.	629	Q8TEJ3	SH3R3_HUMAN	H	629	ENSP00000414997:R629H;ENSP00000309186:R629H	ENSP00000309186:R629H	R	+	2	0	0	SH3RF3	109432115	109432115	1.000000	0.71417	0.970000	0.41538	0.027000	0.11550	6.664000	0.74437	2.680000	0.91292	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-17.163930	1	0.170000	NM_001099289			12	12		131	127	0		1	0		0	0	24	0		9.991073e-01	8.436490e-01	0	0	0	39	0	12	131
KCNF1	3754	broad.mit.edu	37	2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	136					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)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642																																						ENST00000295082.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999656	0.990000	1.000000																										0				19						c.(406-408)gaG>gaT		potassium voltage-gated channel, subfamily F, member 1							44.0	50.0	48.0					2																	11052960		2203	4300	6503	SO:0001583	missense	3754	0	0					g.chr2:11052960G>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.408G>T	chr2.hg19:g.11052960G>T	ENSP00000295082:p.Glu136Asp	1						p.E136D	NM_002236.4	NP_002227.2	1	2	3	2.183349	Q9H3M0	KCNF1_HUMAN		1	898	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	1	1	hg19	c.408G>T	CCDS1676.1	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282346	0.23392	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	5.19	4.06	0.47325	5.19	4.06	0.47325	BTB/POZ fold (2);	1.515580	0.04082	N	0.309783	D	0.90497	0.7023	N	0.20685	0.6	0.44492	D	0.99743	B	0.09022	0.002	B	0.06405	0.002	T	0.70234	-0.4928	10	0.34782	T	0.22	.	12.4587	0.55718	0.1157:0.0:0.8843:0.0	.	136	Q9H3M0	KCNF1_HUMAN	D	136	ENSP00000295082:E136D	ENSP00000295082:E136D	E	+	3	2	2	KCNF1	10970411	10970411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.564000	0.86499	0.563000	0.77884	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.318794	1	0.170000	NM_002236			50	49		402	395	1		1			0	0	57	0		1	0	0	0	0	0	0	50	402
SEPT10	151011	broad.mit.edu	37	2	110323436	110323436	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000397712.2	-	7	1141	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Splice_Site_p.G232*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000437928.1_Splice_Site_p.G240*|SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000356688.4_Splice_Site_p.G255*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	255	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388																																						ENST00000397712.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.990348	0.990000	1.000000																										0				18						c.(763-765)Gga>Tga		septin 10							184.0	165.0	171.0					2																	110323436		1922	4118	6040	SO:0001630	splice_region_variant	151011	0	0					g.chr2:110323436C>A	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.763-1G>T	chr2.hg19:g.110323436C>A		1					SEPT10_ENST00000356688.4_Splice_Site_p.G255*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000437928.1_Splice_Site_p.G240*	p.G255*	NM_144710.3	NP_653311.1	1	2	3	2.195803	Q9P0V9	SEP10_HUMAN		7	1141	-			B3KRQ9|Q86VP5|Q9HAH6	Splice_Site	SNP	ENST00000397712.2	0	1	hg19	c.763G>T	CCDS46383.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289347	0.80914	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	.	.	.	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.267610	0.31922	N	0.006845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	.	.	.	X	213;255;255;232;122;240;88;255;62;88	.	ENSP00000334234:G122X	G	-	1	0	0	SEPT10	109680725	109680725	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	0	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-2.774725	1	0.170000	NM_144710	Nonsense_Mutation		54	54		547	534	0		1	0		0	0	135	0		1	9.999994e-01	0	1	0	209	0	54	547
NPHP1	4867	broad.mit.edu	37	2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000393272.3	-	4	396	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	100					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)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363																																						ENST00000393272.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(298-300)gCt>gAt		nephronophthisis 1 (juvenile)							174.0	160.0	165.0					2																	110936030		2203	4300	6503	SO:0001583	missense	4867	0	0					g.chr2:110936030G>T	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.299C>A	chr2.hg19:g.110936030G>T	ENSP00000376953:p.Ala100Asp	1					NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D	p.A100D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	1	2	3	2.195803	O15259	NPHP1_HUMAN		4	396	-			O14837	Missense_Mutation	SNP	ENST00000393272.3	1	1	hg19	c.299C>A	CCDS46385.1	1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258482	0.39896	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.62364	0.03;0.06;0.03;0.06	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.210292	0.38959	N	0.001519	T	0.76723	0.4027	M	0.61703	1.905	0.42839	D	0.994045	P;P;D;P;P;D	0.71674	0.664;0.947;0.998;0.933;0.773;0.96	B;B;D;B;B;P	0.71656	0.231;0.344;0.974;0.357;0.408;0.56	T	0.76572	-0.2910	10	0.51188	T	0.08	-15.4178	17.4116	0.87487	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	D	100	ENSP00000313169:A100D;ENSP00000389879:A100D;ENSP00000376953:A100D;ENSP00000402176:A100D	ENSP00000313169:A100D	A	-	2	0	0	NPHP1	110293319	110293319	0.944000	0.32072	0.795000	0.32087	0.182000	0.23217	4.441000	0.59981	2.780000	0.95670	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_000272			120	118		338	328	1		1	1		0	0	76	0		1	9.999274e-01	0	20	0	22	0	120	338
BUB1	699	broad.mit.edu	37	2	111398943	111398943	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000302759.6	-	22	2842	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_ENST00000535254.1_Silent_p.V888V|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000478175.1_5'UTR	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CACAGTCATGCACTTGCTCAA	0.373																																						ENST00000302759.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2722-2724)gtG>gtT		BUB1 mitotic checkpoint serine/threonine kinase							123.0	121.0	122.0					2																	111398943		2203	4300	6503	SO:0001819	synonymous_variant	699	0	0					g.chr2:111398943C>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2724G>T	chr2.hg19:g.111398943C>A		1					BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000535254.1_Silent_p.V888V	p.V908V	NM_004336.3	NP_004327.1	1	2	3	2.195803	O43683	BUB1_HUMAN		22	2842	-		Ovarian(717;0.0822)	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	1	1	hg19	c.2724G>T	CCDS33273.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_004336			120	119		565	558	1		1	1		0	0	141	0		1	9.871680e-01	0	16	0	18	0	120	565
ACOXL	55289	broad.mit.edu	37	2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	59					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413																																						ENST00000389811.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(175-177)tgG>tgA		acyl-CoA oxidase-like							190.0	178.0	182.0					2																	111551244		1897	4120	6017	SO:0001587	stop_gained	55289	0	0					g.chr2:111551244G>A		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.177G>A	chr2.hg19:g.111551244G>A	ENSP00000374461:p.Trp59*	1					ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*|ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*	p.W59*			1	2	3	2.195803	Q9NUZ1	ACOXL_HUMAN		4	401	+			A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Nonsense_Mutation	SNP	ENST00000389811.4	0	1	hg19	c.177G>A		1	.	.	.	.	.	.	.	.	.	.	G	36	5.708355	0.96821	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.417998	0.22554	N	0.058543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.1242	16.3486	0.83191	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000343717:W59X	W	+	3	0	0	ACOXL	111267715	111267715	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	2.240000	0.43088	2.459000	0.83118	0.561000	0.74099	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_018308			106	105		641	634	1		1	0		0	0	127	0		1	1.522932e-01	0	0	0	5	0	106	641
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468																																						ENST00000389811.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(568-570)ggG>ggA		acyl-CoA oxidase-like							148.0	136.0	140.0					2																	111559251		2203	4300	6503	SO:0001819	synonymous_variant	55289	0	0					g.chr2:111559251G>A		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.570G>A	chr2.hg19:g.111559251G>A		1					ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G	p.G190G			1	2	3	2.195803	Q9NUZ1	ACOXL_HUMAN		8	794	+			A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	1	1	hg19	c.570G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_018308			87	86		302	296	1		1	0		0	0	83	0		1	2.210845e-01	0	0	0	4	0	87	302
ANAPC1	64682	broad.mit.edu	37	2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	676					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)				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						CTAGTCCATGCTAAGCGGTCT	0.353																																						ENST00000341068.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2026-2028)Gca>Aca		anaphase promoting complex subunit 1							130.0	121.0	124.0					2																	112601003		2202	4300	6502	SO:0001583	missense	64682	0	0					g.chr2:112601003C>T	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.2026G>A	chr2.hg19:g.112601003C>T	ENSP00000339109:p.Ala676Thr	1						p.A676T	NM_022662.3	NP_073153.1	1	2	3	2.195803	Q9H1A4	APC1_HUMAN		17	2798	-			Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	1	1	hg19	c.2026G>A	CCDS2093.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.884|6.884	0.532519|0.532519	0.13127|0.13127	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.48201|.	0.82|.	4.51|4.51	3.63|3.63	0.41609|0.41609	4.51|4.51	3.63|3.63	0.41609|0.41609	.|.	0.375961|.	0.17661|.	N|.	0.166306|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.17631|0.17631	0.505|0.505	0.30186|0.30186	N|N	0.79999|0.79999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.13853|.	T|.	0.58|.	-8.0213|-8.0213	4.8761|4.8761	0.13656|0.13656	0.2894:0.5447:0.0:0.1659|0.2894:0.5447:0.0:0.1659	.|.	676|.	Q9H1A4|.	APC1_HUMAN|.	T|N	676|210	ENSP00000339109:A676T|.	ENSP00000339109:A676T|.	A|S	-|-	1|2	0|0	0|0	ANAPC1|ANAPC1	112317474|112317474	112317474|112317474	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.399000|0.399000	0.20916|0.20916	0.875000|0.875000	0.35847|0.35847	0.446000|0.446000	0.29264|0.29264	GCA|AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_022662			49	47		214	196	1		1	1		0	0	44	0		1	9.988987e-01	0	18	0	30	0	49	214
ANAPC1	64682	broad.mit.edu	37	2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	40					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)				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						CTGCAGCTGGCGAAGTTGAAG	0.493																																						ENST00000341068.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(118-120)cGc>cAc		anaphase promoting complex subunit 1							54.0	53.0	54.0					2																	112638284		2203	4300	6503	SO:0001583	missense	64682	0	0					g.chr2:112638284C>T	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.119G>A	chr2.hg19:g.112638284C>T	ENSP00000339109:p.Arg40His	1					ANAPC1_ENST00000489177.1_5'UTR	p.R40H	NM_022662.3	NP_073153.1	1	2	3	2.195803	Q9H1A4	APC1_HUMAN		2	891	-			Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	1	1	hg19	c.119G>A	CCDS2093.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964728	0.92791	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	4.96	0.65561	5.83	4.96	0.65561	.	0.000000	0.44483	U	0.000442	T	0.53932	0.1827	L	0.48362	1.52	0.53005	D	0.999967	P;B	0.49559	0.925;0.167	B;B	0.43052	0.406;0.018	T	0.57653	-0.7774	9	0.51188	T	0.08	-15.8115	14.8488	0.70281	0.0:0.9309:0.0:0.0691	.	40;40	F8WAS1;Q9H1A4	.;APC1_HUMAN	H	40	.	ENSP00000339109:R40H	R	-	2	0	0	ANAPC1	112354755	112354755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.222000	0.78025	1.453000	0.47775	0.585000	0.79938	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	1	0	1		2	2	2	0		0	0	38		38	40	1	2.060000	-20.000000	1	0.170000	NM_022662			51	50		210	202	1		1	1		0	0	38	0		1	9.875764e-01	0	4	0	27	0	51	210
C2orf50	130813	broad.mit.edu	37	2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y|AC062028.1_ENST00000396164.1_lincRNA			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711																																						ENST00000381585.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(136-138)tGc>tAc		chromosome 2 open reading frame 50							12.0	16.0	15.0					2																	11273597		2190	4280	6470	SO:0001583	missense	130813	0	0					g.chr2:11273597G>A	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.137G>A	chr2.hg19:g.11273597G>A	ENSP00000370997:p.Cys46Tyr	1					C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y|AC062028.1_ENST00000396164.1_lincRNA	p.C46Y			1	2	3	2.183349	Q96LR7	CB050_HUMAN		1	419	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	1	1	hg19	c.137G>A	CCDS1678.1	1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035269	0.19590	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.35	-0.0478	0.13841	3.35	-0.0478	0.13841	.	0.865809	0.09677	N	0.770278	T	0.26991	0.0661	N	0.22421	0.69	0.09310	N	1	B	0.33288	0.406	B	0.31245	0.126	T	0.15780	-1.0425	9	0.24483	T	0.36	5.7794	11.1446	0.48424	0.0:0.5472:0.4528:0.0	.	46	Q96LR7	CB050_HUMAN	Y	46	.	ENSP00000370997:C46Y	C	+	2	0	0	C2orf50	11191048	11191048	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-0.850000	0.04317	-0.026000	0.13895	0.472000	0.43445	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_182500			33	33		106	105	1		1	0		0	0	19	0		1	5.943462e-02	0	1	0	1	0	33	106
MERTK	10461	broad.mit.edu	37	2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000409780.1_Missense_Mutation_p.T79M|MERTK_ENST00000421804.2_Missense_Mutation_p.T255M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	255	Ig-like C2-type 2.				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)			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						CCAGGCCTGACGGAGATGGCG	0.483																																						ENST00000295408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(763-765)aCg>aTg		MER proto-oncogene, tyrosine kinase							112.0	92.0	99.0					2																	112722774		2203	4300	6503	SO:0001583	missense	10461	0	0					g.chr2:112722774C>T	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.764C>T	chr2.hg19:g.112722774C>T	ENSP00000295408:p.Thr255Met	1					MERTK_ENST00000421804.2_Missense_Mutation_p.T255M|MERTK_ENST00000409780.1_Missense_Mutation_p.T79M	p.T255M			1	2	3	2.195803	Q12866	MERTK_HUMAN		5	1021	+			Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	1	1	hg19	c.764C>T	CCDS2094.1	1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.13657	2.57;2.57;2.57	5.6	4.7	0.59300	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003950	T	0.29524	0.0736	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.64506	0.926	T	0.07966	-1.0745	10	0.87932	D	0	-16.4748	9.1185	0.36773	0.2841:0.592:0.1239:0.0	.	255	Q12866	MERTK_HUMAN	M	255;255;79	ENSP00000295408:T255M;ENSP00000389152:T255M;ENSP00000387277:T79M	ENSP00000295408:T255M	T	+	2	0	0	MERTK	112439245	112439245	0.875000	0.30112	0.609000	0.28983	0.053000	0.15095	1.785000	0.38684	1.308000	0.44962	0.563000	0.77884	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				55	55		267	261	1		1	1		0	0	70	0		1	9.999962e-01	0	2	0	90	0	55	267
MERTK	10461	broad.mit.edu	37	2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y|MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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						GTGCATGAAAGACTTCAGCCA	0.478																																						ENST00000295408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1927-1929)Gac>Tac		MER proto-oncogene, tyrosine kinase							114.0	102.0	106.0					2																	112766019		2203	4300	6503	SO:0001583	missense	10461	0	0					g.chr2:112766019G>T	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.1927G>T	chr2.hg19:g.112766019G>T	ENSP00000295408:p.Asp643Tyr	1					MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y	p.D643Y			1	2	3	2.195803	Q12866	MERTK_HUMAN		14	2184	+			Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	1	1	hg19	c.1927G>T	CCDS2094.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628837	0.87560	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.82984	-1.67;-1.67;-1.67	5.96	5.96	0.96718	5.96	5.96	0.96718	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	D	0.88503	0.6454	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88800	0.3284	10	0.87932	D	0	-41.4143	19.1828	0.93630	0.0:0.0:1.0:0.0	.	643	Q12866	MERTK_HUMAN	Y	643;643;285;467	ENSP00000295408:D643Y;ENSP00000389152:D643Y;ENSP00000387277:D467Y	ENSP00000295408:D643Y	D	+	1	0	0	MERTK	112482490	112482490	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.582000	0.90791	2.829000	0.97493	0.579000	0.79373	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				68	65		244	242	1		1	1		0	0	74	0		1	1	0	8	0	155	0	68	244
MERTK	10461	broad.mit.edu	37	2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000409780.1_Missense_Mutation_p.G567S|MERTK_ENST00000421804.2_Missense_Mutation_p.G743S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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						TGCGGACTTCGGCCTCTCTAA	0.483																																						ENST00000295408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2227-2229)Ggc>Agc		MER proto-oncogene, tyrosine kinase							158.0	151.0	153.0					2																	112779036		2203	4300	6503	SO:0001583	missense	10461	0	0					g.chr2:112779036G>A	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.2227G>A	chr2.hg19:g.112779036G>A	ENSP00000295408:p.Gly743Ser	1					MERTK_ENST00000421804.2_Missense_Mutation_p.G743S|MERTK_ENST00000409780.1_Missense_Mutation_p.G567S	p.G743S			1	2	3	2.195803	Q12866	MERTK_HUMAN		17	2484	+			Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	1	1	hg19	c.2227G>A	CCDS2094.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.794592	0.96952	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.24	5.24	0.73138	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34156	U	0.004202	D	0.97356	0.9135	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-27.087	19.012	0.92877	0.0:0.0:1.0:0.0	.	743	Q12866	MERTK_HUMAN	S	743;743;379;567;67	ENSP00000295408:G743S;ENSP00000389152:G743S;ENSP00000387277:G567S;ENSP00000412660:G67S	ENSP00000295408:G743S	G	+	1	0	0	MERTK	112495507	112495507	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-2.982487	1	0.170000				84	83		417	411	1		1	1		0	0	93	0		1	9.999998e-01	0	2	0	109	0	84	417
FBLN7	129804	broad.mit.edu	37	2	112942917	112942917	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409450.3_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						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)			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						CGTCTCCATTGTGAGTATCTC	0.572																																						ENST00000331203.2	1.000000	0.440000	8.900000e-01	5.700000e-01	0.710000	0.730077	0.710000	1.000000																										0				17						c.e7+1		fibulin 7							91.0	76.0	81.0					2																	112942917		2203	4300	6503	SO:0001630	splice_region_variant	129804	0	0					g.chr2:112942917G>A		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.947+1G>A	chr2.hg19:g.112942917G>A		1					FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site		NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	1	2	3	2.195803	Q53RD9	FBLN7_HUMAN		7	1218	+			A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Splice_Site	SNP	ENST00000331203.2	1	1	hg19		CCDS2095.1	0	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507593	0.64410	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7029	0.91627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	FBLN7	112659388	112659388	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.268000	0.95675	2.513000	0.84729	0.561000	0.74099	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-19.974220	1	0.170000	NM_153214	Intron		19	19		323	319	0		1	0		0	0	64	0		9.999907e-01	3.538928e-03	0	1	0	1	0	19	323
FBLN7	129804	broad.mit.edu	37	2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000331203.2	+	8	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	395					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)			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						CAGACTGGGGATCTGATCCTT	0.647																																						ENST00000331203.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1183-1185)gAt>gGt		fibulin 7							97.0	96.0	96.0					2																	112944947		2203	4300	6503	SO:0001583	missense	129804	0	0					g.chr2:112944947A>G		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.1184A>G	chr2.hg19:g.112944947A>G	ENSP00000331411:p.Asp395Gly	1					FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G	p.D395G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	1	2	3	2.195803	Q53RD9	FBLN7_HUMAN		8	1455	+			A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	1	1	hg19	c.1184A>G	CCDS2095.1	1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265622	0.40095	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	N	0.08118	0	0.27037	N	0.964119	B;B;B	0.24368	0.001;0.001;0.102	B;B;B	0.20577	0.005;0.007;0.03	T	0.12451	-1.0547	10	0.31617	T	0.26	-26.3332	15.451	0.75274	1.0:0.0:0.0:0.0	.	261;349;395	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	G	395;261;349;217	ENSP00000331411:D395G;ENSP00000386822:D261G;ENSP00000387000:D349G;ENSP00000272559:D217G	ENSP00000272559:D217G	D	+	2	0	0	FBLN7	112661418	112661418	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.861000	0.92277	2.056000	0.61249	0.454000	0.30748	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	0	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_153214			159	157		560	553	1		1	1		0	0	106	0		1	9.986768e-01	0	2	0	35	0	159	560
ZC3H6	376940	broad.mit.edu	37	2	113088934	113088934	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.G813G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	813							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438																																						ENST00000409871.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2437-2439)ggC>ggT		zinc finger CCCH-type containing 6							119.0	114.0	116.0					2																	113088934		1933	4163	6096	SO:0001819	synonymous_variant	376940	0	0					g.chr2:113088934C>T	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.2439C>T	chr2.hg19:g.113088934C>T		1					ZC3H6_ENST00000343936.4_Silent_p.G813G|AC115115.2_ENST00000607612.1_RNA	p.G813G	NM_198581.2	NP_940983.2	1	2	3	2.195803	P61129	ZC3H6_HUMAN		12	2840	+			A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	1	1	hg19	c.2439C>T	CCDS46393.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_198581			85	84		456	451	1		1	1		0	0	106	0		1	7.983500e-01	0	3	0	15	0	85	456
POLR1B	84172	broad.mit.edu	37	2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000263331.5	+	6	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	318					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)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(952-954)Tac>Cac		polymerase (RNA) I polypeptide B, 128kDa							140.0	134.0	136.0					2																	113309541		2203	4300	6503	SO:0001583	missense	84172	1	121412	34				g.chr2:113309541T>C	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.952T>C	chr2.hg19:g.113309541T>C	ENSP00000263331:p.Tyr318His	1					POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H|POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H	p.Y318H	NM_019014.4	NP_061887.2	1	2	3	2.195803	Q9H9Y6	RPA2_HUMAN		6	1532	+			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	1	1	hg19	c.952T>C	CCDS2097.1	1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065246	0.55432	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.03	5.03	0.67393	5.03	5.03	0.67393	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.178498	0.51477	D	0.000095	T	0.75583	0.3869	M	0.74258	2.255	0.51482	D	0.999925	P;D;B;P	0.76494	0.51;0.999;0.058;0.566	B;D;B;B	0.72982	0.149;0.979;0.086;0.315	T	0.72981	-0.4126	10	0.16420	T	0.52	-10.5154	14.0384	0.64660	0.0:0.0:0.0:1.0	.	356;318;262;318	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	318;356;318;107;262	ENSP00000263331:Y318H;ENSP00000444136:Y356H;ENSP00000387143:Y318H;ENSP00000437914:Y107H;ENSP00000405358:Y262H	ENSP00000263331:Y318H	Y	+	1	0	0	POLR1B	113026012	113026012	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	6.223000	0.72257	2.025000	0.59659	0.482000	0.46254	TAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_019014			110	108		333	329	1		1	1		0	0	102	0		1	9.999935e-01	0	24	0	31	0	110	333
POLR1B	84172	broad.mit.edu	37	2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A	rs369255960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000263331.5	+	8	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	440					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)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5	1.000000	0.960000	1	9.900000e-01	0.990000	0.997151	0.990000	1.000000																										0				42						c.(1318-1320)cGt>cAt		polymerase (RNA) I polypeptide B, 128kDa		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	78.0	80.0	79.0		1151,1319	6.0	1.0	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR1B	NM_001137604.1,NM_019014.4	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	384/1080,440/1136	113315647	1,13003	2202	4300	6502	SO:0001583	missense	84172	2	121268	38				g.chr2:113315647G>A	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.1319G>A	chr2.hg19:g.113315647G>A	ENSP00000263331:p.Arg440His	1					POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H|POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H	p.R440H	NM_019014.4	NP_061887.2	1	2	3	2.195803	Q9H9Y6	RPA2_HUMAN		8	1899	+			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	1	1	hg19	c.1319G>A	CCDS2097.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937416	0.73557	0.0	1.16E-4	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.264671	0.44688	D	0.000436	D	0.82370	0.5022	L	0.61387	1.9	0.44702	D	0.997695	D;P;D	0.57899	0.981;0.561;0.968	P;B;B	0.50617	0.646;0.052;0.365	T	0.81236	-0.1024	10	0.42905	T	0.14	-19.4875	19.3507	0.94384	0.0:0.0:1.0:0.0	.	478;384;440	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	440;478;229;384	ENSP00000263331:R440H;ENSP00000444136:R478H;ENSP00000437914:R229H;ENSP00000405358:R384H	ENSP00000263331:R440H	R	+	2	0	0	POLR1B	113032118	113032118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.873000	0.98535	0.561000	0.74099	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-11.102520	1	0.170000	NM_019014			24	25		189	186	1		1	1		0	0	37	0		9.999998e-01	9.946507e-01	0	18	0	50	0	24	189
ROCK2	9475	broad.mit.edu	37	2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1131		Cleavage; by granzyme B.			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)			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)		ACTGGAACTATCCAGACCAAT	0.433																																						ENST00000315872.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(3391-3393)gAt>gGt		Rho-associated, coiled-coil containing protein kinase 2							124.0	117.0	120.0					2																	11337362		1982	4162	6144	SO:0001583	missense	9475	0	0					g.chr2:11337362T>C	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.3392A>G	chr2.hg19:g.11337362T>C	ENSP00000317985:p.Asp1131Gly	1					ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	p.D1131G	NM_004850.3	NP_004841.2	1	2	3	2.183349	O75116	ROCK2_HUMAN		27	3840	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	1	1	hg19	c.3392A>G	CCDS42654.1	1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885433	0.91814	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.9	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.74881	2.28	0.80722	D	1	D	0.56035	0.974	P	0.53062	0.717	T	0.74447	-0.3662	10	0.42905	T	0.14	.	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1131	O75116	ROCK2_HUMAN	G	1131;888;489	ENSP00000317985:D1131G;ENSP00000385509:D888G	ENSP00000317985:D1131G	D	-	2	0	0	ROCK2	11254813	11254813	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.842000	0.86851	2.180000	0.69256	0.460000	0.39030	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				141	139		346	343	1		1	1		0	0	66	0		1	1	0	37	0	88	0	141	346
POLR1B	84172	broad.mit.edu	37	2	113333196	113333196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000263331.5	+	15	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000537335.1_Silent_p.L889L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1100					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)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3298-3300)Ctg>Ttg		polymerase (RNA) I polypeptide B, 128kDa							142.0	121.0	128.0					2																	113333196		2203	4300	6503	SO:0001819	synonymous_variant	84172	0	0					g.chr2:113333196C>T	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.3298C>T	chr2.hg19:g.113333196C>T		1					POLR1B_ENST00000537335.1_Silent_p.L889L|POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L	p.L1100L	NM_019014.4	NP_061887.2	1	2	3	2.195803	Q9H9Y6	RPA2_HUMAN		15	3878	+			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	1	1	hg19	c.3298C>T	CCDS2097.1	1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149075	0.09185	.	.	ENSG00000125630	ENST00000536096	.	.	.	5.37	-3.41	0.04839	5.37	-3.41	0.04839	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.38933	D	0.957993	.	.	.	.	.	.	T	0.64592	-0.6371	5	0.87932	D	0	-6.2206	8.4804	0.33038	0.0848:0.1293:0.6273:0.1586	.	.	.	.	F	458	.	ENSP00000441192:S458F	S	+	2	0	0	POLR1B	113049667	113049667	0.003000	0.15002	0.000000	0.03702	0.962000	0.63368	0.042000	0.13949	-0.551000	0.06175	-0.262000	0.10625	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-7.658458	1	0.170000	NM_019014			140	140		367	359	0		1	1		0	0	85	0		1	1	0	32	0	44	0	140	367
SLC20A1	6574	broad.mit.edu	37	2	113416788	113416788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	352					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458																																						ENST00000272542.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1054-1056)gtG>gtA		solute carrier family 20 (phosphate transporter), member 1							108.0	107.0	108.0					2																	113416788		2203	4300	6503	SO:0001819	synonymous_variant	6574	0	0					g.chr2:113416788G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1056G>A	chr2.hg19:g.113416788G>A		1					SLC20A1_ENST00000480984.1_3'UTR	p.V352V	NM_005415.4	NP_005406.3	1	2	3	2.195803	Q8WUM9	S20A1_HUMAN		8	1595	+			Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	1	1	hg19	c.1056G>A	CCDS2099.1	1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234197	0.01505	.	.	ENSG00000144136	ENST00000433924	.	.	.	5.57	1.5	0.22942	5.57	1.5	0.22942	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.45659	-0.9246	4	.	.	.	-12.5585	7.6007	0.28075	0.0769:0.0:0.5076:0.4154	.	.	.	.	T	136	.	.	A	+	1	0	0	SLC20A1	113133259	113133259	0.991000	0.36638	0.997000	0.53966	0.220000	0.24768	0.475000	0.22164	0.300000	0.22699	-0.182000	0.12963	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_005415			112	111		372	363	1		1	1		0	0	100	0		1	1	0	60	0	169	0	112	372
SLC20A1	6574	broad.mit.edu	37	2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	391					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478																																						ENST00000272542.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1171-1173)Cta>Ata		solute carrier family 20 (phosphate transporter), member 1							137.0	131.0	133.0					2																	113416903		2203	4300	6503	SO:0001583	missense	6574	0	0					g.chr2:113416903C>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1171C>A	chr2.hg19:g.113416903C>A	ENSP00000272542:p.Leu391Ile	1					SLC20A1_ENST00000480984.1_3'UTR	p.L391I	NM_005415.4	NP_005406.3	1	2	3	2.195803	Q8WUM9	S20A1_HUMAN		8	1710	+			Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	1	1	hg19	c.1171C>A	CCDS2099.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.864962|3.864962	0.71949|0.71949	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.92249	.|-3.0	5.33|5.33	4.26|4.26	0.50523|0.50523	5.33|5.33	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94092|0.94092	0.8106|0.8106	L|L	0.56124|0.56124	1.755|1.755	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	D|D	0.93439|0.93439	0.6792|0.6792	5|10	.|0.51188	.|T	.|0.08	-44.6552|-44.6552	12.1642|12.1642	0.54120|0.54120	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	.|391;391	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	D|I	174|391;203	.|ENSP00000272542:L391I	.|ENSP00000272542:L391I	A|L	+|+	2|1	0|2	0|2	SLC20A1|SLC20A1	113133374|113133374	113133374|113133374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.720000|2.720000	0.47252|0.47252	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCT|CTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_005415			101	101		476	469	1		1	1		0	0	136	0		1	1	0	25	0	264	0	101	476
CKAP2L	150468	broad.mit.edu	37	2	113513898	113513898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000302450.6	-	4	1128	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Silent_p.N185N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	350						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433																																						ENST00000302450.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1048-1050)aaC>aaT		cytoskeleton associated protein 2-like							166.0	157.0	160.0					2																	113513898		2203	4300	6503	SO:0001819	synonymous_variant	150468	0	0					g.chr2:113513898G>A	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.1050C>T	chr2.hg19:g.113513898G>A		1					CKAP2L_ENST00000541405.1_Silent_p.N185N|CKAP2L_ENST00000481732.1_5'Flank	p.N350N	NM_152515.3	NP_689728.3	1	2	3	2.195803	Q8IYA6	CKP2L_HUMAN		4	1128	-			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	1	1	hg19	c.1050C>T	CCDS2100.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000	NM_152515			177	172		519	505	0		1	1		0	0	137	0		1	9.033046e-01	0	2	0	12	0	177	519
CKAP2L	150468	broad.mit.edu	37	2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000302450.6	-	4	704	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353																																						ENST00000302450.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				28						c.(625-627)cCa>cTa		cytoskeleton associated protein 2-like							116.0	122.0	120.0					2																	113514322		2203	4300	6503	SO:0001583	missense	150468	0	0					g.chr2:113514322G>A	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.626C>T	chr2.hg19:g.113514322G>A	ENSP00000305204:p.Pro209Leu	1					CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L|CKAP2L_ENST00000481732.1_5'Flank	p.P209L	NM_152515.3	NP_689728.3	1	2	3	2.195803	Q8IYA6	CKP2L_HUMAN		4	704	-			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	1	1	hg19	c.626C>T	CCDS2100.1	1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891306	0.52014	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.17854	2.25;3.2	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.526312	0.17617	N	0.167865	T	0.23133	0.0559	M	0.73598	2.24	0.47994	D	0.999565	P	0.44044	0.825	P	0.44897	0.463	T	0.07809	-1.0753	10	0.02654	T	1	-1.9767	14.5097	0.67776	0.0:0.0:1.0:0.0	.	209	Q8IYA6	CKP2L_HUMAN	L	44;209	ENSP00000438763:P44L;ENSP00000305204:P209L	ENSP00000305204:P209L	P	-	2	0	0	CKAP2L	113230793	113230793	0.044000	0.20184	0.812000	0.32479	0.175000	0.22909	2.232000	0.43018	2.705000	0.92388	0.585000	0.79938	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_152515			37	36		217	214	1		1	1		0	0	73	0		1	7.015263e-01	0	6	0	10	0	37	217
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					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)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423																																						ENST00000263341.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(640-642)Cga>Tga		interleukin 1, beta	Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)						191.0	185.0	187.0					2																	113588108		2203	4300	6503	SO:0001587	stop_gained	3553	0	0					g.chr2:113588108G>A	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.640C>T	chr2.hg19:g.113588108G>A	ENSP00000263341:p.Arg214*	1					IL1B_ENST00000491056.1_5'UTR	p.R214*	NM_000576.2	NP_000567.1	1	2	3	2.195803	P01584	IL1B_HUMAN		7	850	-			Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	0	1	hg19	c.640C>T	CCDS2102.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	2	IL1B	113304579	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_000576			87	87		616	608	1		1	0		0	0	109	0		1	1	0	1	0	212	0	87	616
PSD4	23550	broad.mit.edu	37	2	113940351	113940351	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000245796.6	+	2	513	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Silent_p.P106P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	106					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637																																						ENST00000245796.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(316-318)ccC>ccA		pleckstrin and Sec7 domain containing 4							44.0	47.0	46.0					2																	113940351		2203	4300	6503	SO:0001819	synonymous_variant	23550	0	0					g.chr2:113940351C>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.318C>A	chr2.hg19:g.113940351C>A		1					PSD4_ENST00000441564.3_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	p.P106P	NM_012455.2	NP_036587.2	1	2	3	2.195803	Q8NDX1	PSD4_HUMAN		2	513	+			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	1	1	hg19	c.318C>A	CCDS33276.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-9.663124	1	0.170000	NM_012455			100	98		215	210	1		1	1		0	0	54	0		1	9.999920e-01	0	11	0	30	0	100	215
PSD4	23550	broad.mit.edu	37	2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000245796.6	+	2	962	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000441564.3_Missense_Mutation_p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597																																						ENST00000245796.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(766-768)tGc>tAc		pleckstrin and Sec7 domain containing 4							93.0	93.0	93.0					2																	113940800		2203	4300	6503	SO:0001583	missense	23550	0	0					g.chr2:113940800G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.767G>A	chr2.hg19:g.113940800G>A	ENSP00000245796:p.Cys256Tyr	1					PSD4_ENST00000441564.3_Missense_Mutation_p.C256Y	p.C256Y	NM_012455.2	NP_036587.2	1	2	3	2.195803	Q8NDX1	PSD4_HUMAN		2	962	+			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	1	1	hg19	c.767G>A	CCDS33276.1	1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623347	0.28889	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.96;2.93	5.83	-3.81	0.04294	5.83	-3.81	0.04294	.	0.734366	0.13127	N	0.411733	T	0.05547	0.0146	L	0.29908	0.895	0.23361	N	0.997835	B;B	0.17667	0.023;0.013	B;B	0.20384	0.029;0.013	T	0.39187	-0.9626	9	.	.	.	.	2.9831	0.05960	0.2146:0.3227:0.3571:0.1056	.	256;256	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Y	256	ENSP00000245796:C256Y;ENSP00000413997:C256Y	.	C	+	2	0	0	PSD4	113657271	113657271	0.000000	0.05858	0.470000	0.27216	0.678000	0.39670	-1.117000	0.03283	-0.380000	0.07894	-0.964000	0.02622	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_012455			92	88		404	394	1		1	1		0	0	104	0		1	9.987809e-01	0	5	0	41	0	92	404
PSD4	23550	broad.mit.edu	37	2	113955353	113955353	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000245796.6	+	14	2682	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	PSD4_ENST00000441564.3_Missense_Mutation_p.E800D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGGGGAGAGCTTGGTGG	0.627																																						ENST00000245796.6	0.640000	0.200000	5.200000e-01	2.800000e-01	0.390000	0.409238	0.390000	0.390000																										0				29						c.(2485-2487)gaG>gaT		pleckstrin and Sec7 domain containing 4							46.0	47.0	46.0					2																	113955353		2203	4300	6503	SO:0001583	missense	23550	0	0					g.chr2:113955353G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2487G>T	chr2.hg19:g.113955353G>T	ENSP00000245796:p.Glu829Asp	1					PSD4_ENST00000441564.3_Missense_Mutation_p.E800D	p.E829D	NM_012455.2	NP_036587.2	1	2	3	2.195803	Q8NDX1	PSD4_HUMAN		14	2682	+			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	1	1	hg19	c.2487G>T	CCDS33276.1	0	.	.	.	.	.	.	.	.	.	.	G	7.974	0.749789	0.15778	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.10382	2.88;2.9	4.67	1.74	0.24563	4.67	1.74	0.24563	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.986040	0.08314	N	0.964991	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25772	0.045;0.134;0.012;0.134	B;B;B;B	0.38755	0.103;0.281;0.037;0.281	T	0.51865	-0.8651	10	0.35671	T	0.21	.	8.0802	0.30739	0.091:0.4703:0.4387:0.0	.	59;486;800;829	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	D	829;800;42	ENSP00000245796:E829D;ENSP00000413997:E800D	ENSP00000245796:E829D	E	+	3	2	2	PSD4	113671824	113671824	0.962000	0.33011	0.713000	0.30519	0.360000	0.29518	1.057000	0.30492	0.040000	0.15660	-0.379000	0.06801	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	0	0	0		2	2	2	0		0	0	69		69	67	1	2.060000	-10.997210	1	0.170000	NM_012455			11	11		358	352	0		1	0		0	0	69	0		9.982385e-01	4.418503e-01	0	1	0	46	0	11	358
PSD4	23550	broad.mit.edu	37	2	113955419	113955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000245796.6	+	14	2748	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_ENST00000441564.3_Silent_p.T822T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	851	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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.T851T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652																																						ENST00000245796.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T851T(1)	endometrium(1)	29						c.(2551-2553)acG>acA		pleckstrin and Sec7 domain containing 4							32.0	33.0	33.0					2																	113955419		2203	4300	6503	SO:0001819	synonymous_variant	23550	1	121412	30				g.chr2:113955419G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2553G>A	chr2.hg19:g.113955419G>A		1					PSD4_ENST00000441564.3_Silent_p.T822T	p.T851T	NM_012455.2	NP_036587.2	1	2	3	2.195803	Q8NDX1	PSD4_HUMAN		14	2748	+			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	1	1	hg19	c.2553G>A	CCDS33276.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	0		2	2	2	0		0	0	45		45	41	1	2.060000	-20.000000	1	0.170000	NM_012455			43	29		222	206	1		1	1		0	0	45	0		1	9.957305e-01	0	9	0	37	0	43	222
PAX8	7849	broad.mit.edu	37	2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	35	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|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 mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|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 thyroid hormone generation (GO:2000611)|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)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q12-q14	2q12-q14	7849	T	paired box gene 8	yes	yes	Thyroid dysgenesis	E	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				20	GRCh37	CM065372	PAX8	M		c.(103-105)Gta>Ata		paired box 8							45.0	51.0	49.0					2																	114004419		2139	4285	6424	SO:0001583	missense	7849	0	0					g.chr2:114004419C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.103G>A	chr2.hg19:g.114004419C>T	ENSP00000395498:p.Val35Ile	1					AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I	p.V35I	NM_003466.3	NP_003457.1	1	2	3	2.195803	Q06710	PAX8_HUMAN		3	297	-			Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	1	1	hg19	c.103G>A	CCDS46398.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965967	0.92855	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99483	-5.99;-5.99;-5.99;-5.99;-5.99	5.1	5.1	0.69264	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	L	0.48986	1.54	0.80722	D	1	P;D;D;D;D	0.89917	0.787;1.0;0.993;0.992;0.968	P;D;D;P;P	0.78314	0.613;0.991;0.96;0.566;0.767	D	0.99387	1.0924	10	0.87932	D	0	.	16.0313	0.80579	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	I	35	ENSP00000263335:V35I;ENSP00000380768:V35I;ENSP00000314750:V35I;ENSP00000395498:V35I;ENSP00000263334:V35I	ENSP00000263334:V35I	V	-	1	0	0	PAX8	113720889	113720889	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.763000	0.85283	2.382000	0.81193	0.655000	0.94253	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000				54	52		263	259	1		1	0		0	0	52	0		1	0	0	0	0	1	0	54	263
RABL2A	11159	broad.mit.edu	37	2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000393167.3	+	4	412	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000409875.1_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	63					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552																																						ENST00000393167.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.995416	0.990000	1.000000																										0				9						c.(187-189)Gcc>Tcc		RAB, member of RAS oncogene family-like 2A							114.0	72.0	86.0					2																	114391779		2203	4300	6503	SO:0001583	missense	11159	0	0					g.chr2:114391779G>T		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.187G>T	chr2.hg19:g.114391779G>T	ENSP00000376872:p.Ala63Ser	1					RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000409875.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S	p.A63S	NM_013412.2	NP_038198.1	1	2	3	2.195803	Q9UBK7	RBL2A_HUMAN		4	412	+			B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	1	1	hg19	c.187G>T	CCDS2118.1	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374341	0.42105	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000413545;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.05;-1.36;-1.36;-1.36;-1.36	4.13	3.25	0.37280	4.13	3.25	0.37280	Small GTP-binding protein domain (1);	0.308233	0.40640	N	0.001055	T	0.80166	0.4573	M	0.65975	2.015	0.21762	N	0.999553	P;P;P;D	0.53312	0.633;0.589;0.633;0.959	P;P;P;P	0.53689	0.507;0.507;0.507;0.732	T	0.68492	-0.5394	10	0.08179	T	0.78	.	8.0718	0.30693	0.2026:0.0:0.7974:0.0	.	63;63;63;63	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5	.;.;RBL2A_HUMAN;.	S	63	ENSP00000376872:A63S;ENSP00000386460:A63S;ENSP00000388944:A63S;ENSP00000376870:A63S;ENSP00000376871:A63S;ENSP00000387229:A63S;ENSP00000365622:A63S	ENSP00000365622:A63S	A	+	1	0	0	RABL2A	114108249	114108249	0.951000	0.32395	0.257000	0.24404	0.476000	0.33039	1.826000	0.39092	0.966000	0.38159	-0.369000	0.07265	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2	1	0	1		2	2	2	0		0	0	27		27	34	1	2.060000	-19.958890	1	0.170000				13	13		90	84	1		1	1		0	0	27	0		9.994819e-01	9.389246e-01	0	5	0	31	0	13	90
RABL2A	11159	broad.mit.edu	37	2	114398497	114398497	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000393167.3	+	6	549	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409875.1_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.T108T	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	108					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502																																						ENST00000393167.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(322-324)acC>acA		RAB, member of RAS oncogene family-like 2A							91.0	85.0	87.0					2																	114398497		2201	4299	6500	SO:0001819	synonymous_variant	11159	0	0					g.chr2:114398497C>A		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.324C>A	chr2.hg19:g.114398497C>A		1					RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000409875.1_Silent_p.T108T|RABL2A_ENST00000393165.3_Silent_p.T108T	p.T108T	NM_013412.2	NP_038198.1	1	2	3	2.195803	Q9UBK7	RBL2A_HUMAN		6	549	+			B7ZBD6|Q9NU37	Silent	SNP	ENST00000393167.3	1	1	hg19	c.324C>A	CCDS2118.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2	0	0	1		15	2	2	0		0	1	82		82	94	1	2.060000	-3.018296	1	0.170000				57	57		347	324	1		1	0		0	0	82	0		9.999999e-01	8.149279e-01	0	1	0	20	0	57	347
SLC35F5	80255	broad.mit.edu	37	2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	MIR4782_ENST00000577987.1_RNA|SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	486					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313																																						ENST00000245680.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999905	0.990000	1.000000																										0				20						c.(1456-1458)aGa>aTa		solute carrier family 35, member F5							75.0	76.0	76.0					2																	114476770		2202	4299	6501	SO:0001583	missense	80255	0	0					g.chr2:114476770C>A	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.1457G>T	chr2.hg19:g.114476770C>A	ENSP00000245680:p.Arg486Ile	1					SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	p.R486I	NM_025181.2	NP_079457.2	1	2	3	2.195803	Q8WV83	S35F5_HUMAN		14	1870	-			Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	1	1	hg19	c.1457G>T	CCDS2119.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001974|4.001974	0.74932|0.74932	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.47177	.|0.85;0.85	5.59|5.59	5.59|5.59	0.84812|0.84812	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.56761	.|0.2007	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.58493	.|-0.7627	.|10	.|0.46703	.|T	.|0.11	-16.8411|-16.8411	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486	.|Q8WV83	.|S35F5_HUMAN	X|I	18|486;480	.|ENSP00000245680:R486I;ENSP00000386754:R480I	.|ENSP00000245680:R486I	E|R	-|-	1|2	0|0	0|0	SLC35F5|SLC35F5	114193240|114193240	114193240|114193240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-16.402480	1	0.170000	NM_025181			37	37		254	249	1		1	1		0	0	81	0		1	1	0	58	0	231	0	37	254
E2F6	1876	broad.mit.edu	37	2	11597324	11597324	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000546212.1_Intron	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	48					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249																																						ENST00000381525.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(142-144)gtA>gtG		E2F transcription factor 6							79.0	73.0	75.0					2																	11597324		1788	4061	5849	SO:0001819	synonymous_variant	1876	1	120738	26				g.chr2:11597324T>C	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.144A>G	chr2.hg19:g.11597324T>C		1					E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000307236.4_Silent_p.V16V	p.V48V	NM_198256.2	NP_937987.2	1	2	3	2.183349	O75461	E2F6_HUMAN		2	413	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Silent	SNP	ENST00000381525.3	1	1	hg19	c.144A>G	CCDS1680.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001952			43	43		114	112	1		1	1		0	0	37	0		1	9.915757e-01	0	10	0	13	0	43	114
SLC35F5	80255	broad.mit.edu	37	2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	180					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343																																						ENST00000245680.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(538-540)aGc>aTc		solute carrier family 35, member F5							234.0	224.0	228.0					2																	114501313		2203	4300	6503	SO:0001583	missense	80255	0	0					g.chr2:114501313C>A	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.539G>T	chr2.hg19:g.114501313C>A	ENSP00000245680:p.Ser180Ile	1					SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	p.S180I	NM_025181.2	NP_079457.2	1	2	3	2.195803	Q8WV83	S35F5_HUMAN		6	952	-			Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	1	1	hg19	c.539G>T	CCDS2119.1	1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202722	0.38905	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.35	4.41	0.53225	5.35	4.41	0.53225	.	0.509245	0.23142	N	0.051441	T	0.28499	0.0705	N	0.14661	0.345	0.40549	D	0.981104	B;B;B	0.26876	0.162;0.015;0.037	B;B;B	0.28553	0.091;0.009;0.026	T	0.10941	-1.0608	10	0.36615	T	0.2	-3.8121	6.8013	0.23752	0.0:0.7491:0.0:0.2509	.	180;174;180	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	180;174;174	ENSP00000245680:S180I;ENSP00000386754:S174I	ENSP00000245680:S180I	S	-	2	0	0	SLC35F5	114217783	114217783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.340000	0.33896	1.327000	0.45338	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	1	0	1		2	2	2	0		0	0	208		208	208	1	2.060000	-20.000000	1	0.170000	NM_025181			157	157		616	614	1		1	1		0	0	208	0		1	1	0	85	0	187	0	157	616
DPP10	57628	broad.mit.edu	37	2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N|DPP10_ENST00000310323.8_Missense_Mutation_p.S19N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			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						GGAAGTAACAGCCCTCCACAG	0.408																																						ENST00000410059.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(76-78)aGc>aAc		dipeptidyl-peptidase 10 (non-functional)							185.0	171.0	176.0					2																	116066831		2203	4300	6503	SO:0001583	missense	57628	1	121410	28				g.chr2:116066831G>A	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.77G>A	chr2.hg19:g.116066831G>A	ENSP00000386565:p.Ser26Asn	1					DPP10_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N	p.S26N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	1	2	3	2.195803	Q8N608	DPP10_HUMAN		2	557	+			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	1	1	hg19	c.77G>A	CCDS46400.1	1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136495	0.06711	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.6	4.73	0.59995	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.25245	0.725	0.43267	D	0.995217	B;B;B;B	0.18610	0.029;0.0;0.008;0.014	B;B;B;B	0.23018	0.043;0.002;0.013;0.013	T	0.08472	-1.0720	10	0.02654	T	1	-1.0384	13.8543	0.63517	0.0735:0.0:0.9265:0.0	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	26;22;30;19	ENSP00000386565:S26N;ENSP00000376854:S22N;ENSP00000376855:S30N;ENSP00000309066:S19N	ENSP00000309066:S19N	S	+	2	0	0	DPP10	115783301	115783301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	1.375000	0.46248	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_020868			54	54		183	179	1		1			0	0	47	0		1	0	0	0	0	0	0	54	183
DPP10	57628	broad.mit.edu	37	2	116101424	116101424	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L|DPP10_ENST00000310323.8_Silent_p.L62L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	69						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			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						AAACCAGATTGTCTTTGGAAG	0.343																																						ENST00000410059.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(205-207)ttG>ttA		dipeptidyl-peptidase 10 (non-functional)							92.0	96.0	94.0					2																	116101424		2203	4300	6503	SO:0001819	synonymous_variant	57628	0	0					g.chr2:116101424G>A	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.207G>A	chr2.hg19:g.116101424G>A		1					DPP10_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L	p.L69L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	1	2	3	2.195803	Q8N608	DPP10_HUMAN		3	687	+			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	1	1	hg19	c.207G>A	CCDS46400.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_020868			73	71		321	318	1		1			0	0	66	0		1	0	0	0	0	0	0	73	321
DPP10	57628	broad.mit.edu	37	2	116101463	116101463	+	Silent	SNP	C	C	T	rs143448690	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000310323.8_Silent_p.H75H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			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						TTGTGCTTCACGATCCAGAGG	0.333													C|||	3	0.000599042	0.0	0.0	5008	,	,		14959	0.0		0.0	False		,,,				2504	0.0031					ENST00000410059.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(244-246)caC>caT		dipeptidyl-peptidase 10 (non-functional)							86.0	88.0	87.0					2																	116101463		2203	4300	6503	SO:0001819	synonymous_variant	57628	27	121406	43				g.chr2:116101463C>T	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.246C>T	chr2.hg19:g.116101463C>T		1					DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H	p.H82H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	1	2	3	2.195803	Q8N608	DPP10_HUMAN		3	726	+			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	1	1	hg19	c.246C>T	CCDS46400.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_020868			64	63		275	271	1		1	0		0	0	57	0		1	0	0	0	0	1	0	64	275
DPP10	57628	broad.mit.edu	37	2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	126						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			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						GGTAACCTTCAAAGCATCAAG	0.279																																						ENST00000410059.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(376-378)Aaa>Gaa		dipeptidyl-peptidase 10 (non-functional)							83.0	82.0	82.0					2																	116283483		2203	4300	6503	SO:0001583	missense	57628	0	0					g.chr2:116283483A>G	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.376A>G	chr2.hg19:g.116283483A>G	ENSP00000386565:p.Lys126Glu	1					DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E	p.K126E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	1	2	3	2.195803	Q8N608	DPP10_HUMAN		5	856	+			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	1	1	hg19	c.376A>G	CCDS46400.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070143	0.76301	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95724	1.61;1.61;-3.79;1.61;1.61;-3.79	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.252077	0.38837	N	0.001546	D	0.95573	0.8561	M	0.69823	2.125	0.38306	D	0.94311	P;P;P;P	0.51791	0.936;0.919;0.948;0.895	P;B;P;P	0.52217	0.693;0.3;0.63;0.496	D	0.94845	0.8008	10	0.23891	T	0.37	-30.62	12.5691	0.56326	1.0:0.0:0.0:0.0	.	119;130;122;126	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	126;76;122;130;119;76;76	ENSP00000386565:K126E;ENSP00000387038:K76E;ENSP00000376854:K122E;ENSP00000376855:K130E;ENSP00000309066:K119E;ENSP00000402499:K76E	ENSP00000309066:K119E	K	+	1	0	0	DPP10	115999953	115999953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.357000	0.73051	2.084000	0.62774	0.460000	0.39030	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_020868			55	53		192	189	1		1	0		0	0	36	0		1	0	0	0	0	1	0	55	192
GREB1	9687	broad.mit.edu	37	2	11733252	11733252	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	566						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(1696-1698)Gga>Aga		growth regulation by estrogen in breast cancer 1							14.0	14.0	14.0					2																	11733252		2026	4152	6178	SO:0001630	splice_region_variant	9687	0	0					g.chr2:11733252G>A		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.1696+1G>A	chr2.hg19:g.11733252G>A		1					GREB1_ENST00000234142.5_Splice_Site_p.G566R	p.G566R	NM_014668.3	NP_055483.2	1	2	3	2.183349	Q4ZG55	GREB1_HUMAN		11	1996	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Splice_Site	SNP	ENST00000381486.2	1	0	hg19	c.1696G>A	CCDS42655.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475001	0.84640	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.61742	2.45;2.45;0.08	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80306	-0.1438	10	0.87932	D	0	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	200;566	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	566;566;200	ENSP00000370896:G566R;ENSP00000234142:G566R;ENSP00000403886:G200R	ENSP00000234142:G566R	G	+	1	0	0	GREB1	11650703	11650703	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	9.306000	0.96204	2.332000	0.79248	0.591000	0.81541	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-3.713241	1	0.170000	NM_014668	Missense_Mutation		21	21		81	79	1		1	0		0	0	20	0		9.999987e-01	0	0	0	0	1	0	21	81
GREB1	9687	broad.mit.edu	37	2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	761						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2281-2283)Ccg>Tcg		growth regulation by estrogen in breast cancer 1							185.0	180.0	182.0					2																	11738934		1928	4130	6058	SO:0001583	missense	9687	0	0					g.chr2:11738934C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2281C>T	chr2.hg19:g.11738934C>T	ENSP00000370896:p.Pro761Ser	1					GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	p.P761S	NM_014668.3	NP_055483.2	1	2	3	2.183349	Q4ZG55	GREB1_HUMAN		15	2581	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	1	1	hg19	c.2281C>T	CCDS42655.1	1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126189	0.20959	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.48522	3.14;3.14;0.81	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.208574	0.42821	D	0.000660	T	0.65883	0.2734	L	0.60845	1.875	0.58432	D	0.999997	P;D	0.89917	0.884;1.0	B;D	0.87578	0.292;0.998	T	0.63804	-0.6554	10	0.36615	T	0.2	-49.1598	18.3867	0.90469	0.0:1.0:0.0:0.0	.	395;761	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	761;761;395	ENSP00000370896:P761S;ENSP00000234142:P761S;ENSP00000403886:P395S	ENSP00000234142:P761S	P	+	1	0	0	GREB1	11656385	11656385	1.000000	0.71417	0.543000	0.28128	0.044000	0.14063	4.476000	0.60216	2.344000	0.79699	0.563000	0.77884	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1		2	2	2	0		0	0	180		180	177	1	2.060000	-7.843152	1	0.170000	NM_014668			179	172		501	488	1		1	0		0	0	180	0		1	6.651985e-01	0	0	0	8	0	179	501
GREB1	9687	broad.mit.edu	37	2	11756779	11756779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000396123.1_Silent_p.S113S|GREB1_ENST00000234142.5_Silent_p.S1115S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1115	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(3343-3345)agC>agT		growth regulation by estrogen in breast cancer 1							202.0	223.0	216.0					2																	11756779		2028	4195	6223	SO:0001819	synonymous_variant	9687	1	120944	33				g.chr2:11756779C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3345C>T	chr2.hg19:g.11756779C>T		1					GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	p.S1115S	NM_014668.3	NP_055483.2	1	2	3	2.183349	Q4ZG55	GREB1_HUMAN		21	3645	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	1	1	hg19	c.3345C>T	CCDS42655.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1		2	2	2	0		0	0	240		240	239	1	2.060000	-20.000000	1	0.170000	NM_014668			156	154		1135	1120	1		1	0		0	0	240	0		1	1.482600e-02	0	0	0	2	0	156	1135
GREB1	9687	broad.mit.edu	37	2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000396123.1_Missense_Mutation_p.A791V|GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1793						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(5377-5379)gCc>gTc		growth regulation by estrogen in breast cancer 1							54.0	61.0	58.0					2																	11777873		2110	4213	6323	SO:0001583	missense	9687	0	0					g.chr2:11777873C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5378C>T	chr2.hg19:g.11777873C>T	ENSP00000370896:p.Ala1793Val	1					GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	p.A1793V	NM_014668.3	NP_055483.2	1	2	3	2.183349	Q4ZG55	GREB1_HUMAN		31	5678	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	1	1	hg19	c.5378C>T	CCDS42655.1	1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953873	0.18431	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22134	3.29;3.29;1.97	4.75	3.87	0.44632	4.75	3.87	0.44632	.	0.253826	0.39210	N	0.001434	T	0.14700	0.0355	N	0.25647	0.755	0.37633	D	0.921731	B	0.06786	0.001	B	0.12837	0.008	T	0.09552	-1.0669	10	0.27785	T	0.31	-18.3019	12.3092	0.54920	0.0:0.9176:0.0:0.0823	.	1793	Q4ZG55	GREB1_HUMAN	V	1793;1793;791	ENSP00000370896:A1793V;ENSP00000234142:A1793V;ENSP00000379429:A791V	ENSP00000234142:A1793V	A	+	2	0	0	GREB1	11695324	11695324	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	4.544000	0.60691	2.186000	0.69663	0.557000	0.71058	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_014668			58	59		347	346	1		1	0		0	0	68	0		1	4.343577e-01	0	0	0	10	0	58	347
DPP10	57628	broad.mit.edu	37	2	116520160	116520160	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116520160A>G	ENST00000410059.1	+	12	1567	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A|DPP10_ENST00000310323.8_Missense_Mutation_p.T356A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			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						ATATGAGATGACATCAGATAC	0.353																																						ENST00000410059.1	1.000000	0.140000	1	2.000000e-01	0.290000	0.436541	0.290000	0.260000																										0				101						c.(1087-1089)Aca>Gca		dipeptidyl-peptidase 10 (non-functional)							197.0	186.0	190.0					2																	116520160		2203	4300	6503	SO:0001583	missense	57628	0	0					g.chr2:116520160A>G	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.1087A>G	chr2.hg19:g.116520160A>G	ENSP00000386565:p.Thr363Ala	1					DPP10_ENST00000310323.8_Missense_Mutation_p.T356A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A	p.T363A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	1	3	4	2.010116	Q8N608	DPP10_HUMAN		12	1567	+			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	0	1	hg19	c.1087A>G	CCDS46400.1	0	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825688	0.16749	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.99	3.83	0.44106	4.99	3.83	0.44106	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.499086	0.21341	N	0.076137	T	0.09686	0.0238	N	0.01250	-0.93	0.29987	N	0.817178	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.15484	0.008;0.002;0.013;0.013	T	0.08932	-1.0698	10	0.33940	T	0.23	-1.6217	4.4942	0.11828	0.6423:0.1833:0.1744:0.0	.	356;367;359;363	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	A	363;313;367;356;313	ENSP00000386565:T363A;ENSP00000387038:T313A;ENSP00000376855:T367A;ENSP00000309066:T356A	ENSP00000309066:T356A	T	+	1	0	0	DPP10	116236630	116236630	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.676000	0.54612	0.927000	0.37143	0.454000	0.30748	ACA	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	0	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.056907	1	0.170000	NM_020868			12	12		589	581	0		1	0		0	0	120	0		9.990514e-01	4.997090e-04	0	0	0	2	0	12	589
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388																																						ENST00000263239.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999698	0.990000	1.000000																										0				25						c.(1360-1362)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							147.0	145.0	145.0					2																	118582670		2203	4300	6503	SO:0001583	missense	8886	0	0					g.chr2:118582670C>T	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.1361C>T	chr2.hg19:g.118582670C>T	ENSP00000263239:p.Ala454Val	1						p.A454V	NM_006773.3	NP_006764.3	1	3	4	2.010116	Q9NVP1	DDX18_HUMAN		9	1489	+			Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	1	1	hg19	c.1361C>T	CCDS2120.1	1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784446	0.49997	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.74526	-0.85;-0.85	5.17	5.17	0.71159	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.046893	0.85682	N	0.000000	T	0.69753	0.3146	N	0.21508	0.67	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.67473	-0.5662	10	0.30078	T	0.28	.	19.0359	0.92978	0.0:1.0:0.0:0.0	.	454	Q9NVP1	DDX18_HUMAN	V	454;193;118	ENSP00000263239:A454V;ENSP00000415604:A118V	ENSP00000263239:A454V	A	+	2	0	0	DDX18	118299140	118299140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.583000	0.87209	0.650000	0.86243	GCC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-19.294250	1	0.170000	NM_006773			63	61		550	536	1		1	1		0	0	112	0		1	1	0	35	0	260	0	63	550
DDX18	8886	broad.mit.edu	37	2	118583136	118583136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	494	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438																																						ENST00000263239.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996887	0.990000	1.000000																										0				25						c.(1480-1482)gtC>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							128.0	116.0	120.0					2																	118583136		2203	4300	6503	SO:0001819	synonymous_variant	8886	1	121412	34				g.chr2:118583136C>T	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.1482C>T	chr2.hg19:g.118583136C>T		1						p.V494V	NM_006773.3	NP_006764.3	1	3	4	2.010116	Q9NVP1	DDX18_HUMAN		10	1610	+			Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	1	1	hg19	c.1482C>T	CCDS2120.1	1																																																																																								2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	1	0	1		17	2	2	0		0	1	91		91	91	1	2.060000	-3.075755	1	0.170000	NM_006773			43	44		405	397	1		1	1		0	0	91	0		9.998378e-01	9.999998e-01	0	31	0	191	0	43	405
LPIN1	23175	broad.mit.edu	37	2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000256720.2	+	7	1140	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	349					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)			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)		AAGACCTGGAGACCTTAGGAG	0.522																																						ENST00000256720.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1045-1047)gaG>gaT		lipin 1							86.0	87.0	87.0					2																	11922524		2203	4300	6503	SO:0001583	missense	23175	0	0					g.chr2:11922524G>T	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.1047G>T	chr2.hg19:g.11922524G>T	ENSP00000256720:p.Glu349Asp	1					LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D	p.E349D	NM_145693.2	NP_663731.1	1	2	3	2.183349	Q14693	LPIN1_HUMAN		7	1140	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	1	1	hg19	c.1047G>T	CCDS1682.1	1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269071	0.23221	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.518813	0.22091	N	0.064743	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16166	0.016;0.002;0.011	B;B;B	0.17979	0.02;0.006;0.019	T	0.58399	-0.7643	10	0.25106	T	0.35	-25.3093	11.3028	0.49316	0.0708:0.1284:0.8008:0.0	.	434;349;391	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	434;391;391;355;349;79	ENSP00000397908:E434D;ENSP00000379405:E391D;ENSP00000379406:E391D;ENSP00000401522:E355D;ENSP00000256720:E349D;ENSP00000379404:E79D	ENSP00000256720:E349D	E	+	3	2	2	LPIN1	11839975	11839975	1.000000	0.71417	0.847000	0.33407	0.018000	0.09664	3.696000	0.54757	2.757000	0.94681	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_145693			87	85		275	266	1		1	1		0	0	68	0		1	1	0	29	0	65	0	87	275
LPIN1	23175	broad.mit.edu	37	2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000256720.2	+	17	2278	c.2185A>C	c.(2185-2187)Atg>Ctg	p.M729L	LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	729	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			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)		TGCCATCGGGATGGCGGACAT	0.542																																						ENST00000256720.2	0.620000	0.160000	4.900000e-01	2.400000e-01	0.350000	0.372623	0.350000	0.330000																										0				45						c.(2185-2187)Atg>Ctg		lipin 1							56.0	56.0	56.0					2																	11955257		2203	4300	6503	SO:0001583	missense	23175	0	0					g.chr2:11955257A>C	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.2185A>C	chr2.hg19:g.11955257A>C	ENSP00000256720:p.Met729Leu	1					LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L	p.M729L	NM_145693.2	NP_663731.1	1	2	3	2.183349	Q14693	LPIN1_HUMAN		17	2278	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	1	1	hg19	c.2185A>C	CCDS1682.1	0	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886297	0.91814	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.95	0.65309	4.95	4.95	0.65309	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.41573	1.285	0.80722	D	1	P;D;B	0.67145	0.853;0.996;0.096	P;D;B	0.80764	0.717;0.994;0.345	T	0.81385	-0.0957	10	0.49607	T	0.09	-35.1722	14.6363	0.68692	1.0:0.0:0.0:0.0	.	230;814;729	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	814;771;735;729;459;230	ENSP00000397908:M814L;ENSP00000379406:M771L;ENSP00000401522:M735L;ENSP00000256720:M729L;ENSP00000379404:M459L;ENSP00000386120:M230L	ENSP00000256720:M729L	M	+	1	0	0	LPIN1	11872708	11872708	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.780000	0.91799	1.860000	0.53959	0.460000	0.39030	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	0	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.568846	1	0.170000	NM_145693			8	8		295	292	0		1	1		0	0	47	0		9.891867e-01	5.114385e-01	0	2	0	58	0	8	295
CCDC93	54520	broad.mit.edu	37	2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	RP11-98C1.1_ENST00000588733.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|RP11-98C1.2_ENST00000591103.1_RNA|AC009303.1_ENST00000590516.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453																																						ENST00000376300.2	1.000000	0.550000	1	7.200000e-01	0.950000	0.887247	0.950000	1.000000																										0				29						c.(310-312)gaG>gaT		coiled-coil domain containing 93							114.0	112.0	113.0					2																	118758448		2203	4300	6503	SO:0001583	missense	54520	0	0					g.chr2:118758448C>A	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.312G>T	chr2.hg19:g.118758448C>A	ENSP00000365477:p.Glu104Asp	1					RP11-98C1.2_ENST00000591103.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000588042.1_RNA	p.E104D	NM_019044.4	NP_061917.3	1	3	4	2.010116	Q567U6	CCD93_HUMAN		4	449	-			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	1	1	hg19	c.312G>T	CCDS2121.2	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126002	0.77436	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.49432	0.78;0.78	5.01	4.14	0.48551	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.80508	2.5	0.50813	D	0.999895	D	0.89917	1.0	D	0.83275	0.996	T	0.70163	-0.4947	10	0.44086	T	0.13	-23.1679	12.5642	0.56300	0.0:0.918:0.0:0.082	.	104	Q567U6	CCD93_HUMAN	D	104	ENSP00000365477:E104D;ENSP00000324135:E104D	ENSP00000324135:E104D	E	-	3	2	2	CCDC93	118474918	118474918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.082000	0.30803	1.480000	0.48289	0.591000	0.81541	GAG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-6.359293	1	0.170000	NM_019044			17	17		240	237	0		1	1		0	0	50	0		9.999668e-01	7.657586e-01	0	4	0	37	0	17	240
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000327097.4	+	1	171	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	12					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.L12L(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						AGGACGAGCTCTTGAGTGAGA	0.438																																					GBM(8;18 374 7467 11269 32796)	ENST00000327097.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.L12L(1)	lung(1)	70						c.(34-36)ctC>ctA		macrophage receptor with collagenous structure							96.0	96.0	96.0					2																	119699912		2203	4300	6503	SO:0001819	synonymous_variant	8685	0	0					g.chr2:119699912C>A	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.36C>A	chr2.hg19:g.119699912C>A		1					MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	p.L12L	NM_006770.3	NP_006761.1	1	3	4	2.010116	Q9UEW3	MARCO_HUMAN		1	171	+			B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	1	0	hg19	c.36C>A	CCDS2124.1	1																																																																																								2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-7.577295	1	0.170000	NM_006770			105	102		266	265	1		1	0		0	0	59	0		1	1	0	0	0	73	0	105	266
MARCO	8685	broad.mit.edu	37	2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000327097.4	+	3	407	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	91					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)			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						GCTGAGGACAGCCCGTCCTTC	0.607																																					GBM(8;18 374 7467 11269 32796)	ENST00000327097.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999742	0.990000	1.000000																										0				70						c.(271-273)aGc>aTc		macrophage receptor with collagenous structure							80.0	79.0	79.0					2																	119727762		2203	4300	6503	SO:0001583	missense	8685	0	0					g.chr2:119727762G>T	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.272G>T	chr2.hg19:g.119727762G>T	ENSP00000318916:p.Ser91Ile	1					MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	p.S91I	NM_006770.3	NP_006761.1	1	3	4	2.010116	Q9UEW3	MARCO_HUMAN		3	407	+			B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	1	1	hg19	c.272G>T	CCDS2124.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691316	0.30052	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90324	-2.65;-2.61	4.22	-4.57	0.03421	4.22	-4.57	0.03421	.	1.340110	0.04576	N	0.394204	T	0.80555	0.4645	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.33690	0.168	T	0.70699	-0.4800	9	.	.	.	.	5.8173	0.18500	0.5132:0.2672:0.2196:0.0	.	91	Q9UEW3	MARCO_HUMAN	I	91;91;13;13	ENSP00000318916:S91I;ENSP00000441769:S13I	.	S	+	2	0	0	MARCO	119444232	119444232	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.076000	0.03420	-1.039000	0.03275	-0.258000	0.10820	AGC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_006770			42	42		332	326	1		1	0		0	0	78	0		1	9.997081e-01	0	0	0	98	0	42	332
C1QL2	165257	broad.mit.edu	37	2	119914429	119914429	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	271	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612										HNSCC(49;0.14)																												ENST00000272520.3	1.000000	0.860000	1	9.800000e-01	0.990000	0.988246	0.990000	1.000000																										0				7						c.(811-813)ggC>ggT		complement component 1, q subcomponent-like 2							164.0	177.0	173.0					2																	119914429		2197	4296	6493	SO:0001819	synonymous_variant	165257	0	0					g.chr2:119914429G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.813C>T	chr2.hg19:g.119914429G>A		1	HNSCC(49;0.14)					p.G271G	NM_182528.3	NP_872334.2	1	3	4	2.010116	Q7Z5L3	C1QL2_HUMAN		2	1432	-				Silent	SNP	ENST00000272520.3	1	1	hg19	c.813C>T	CCDS42737.1	1																																																																																								2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	1	0	1		2	2	2	0		0	0	177		177	176	1	2.060000	-16.644140	1	0.170000	NM_182528			71	71		785	771	0		1			0	0	177	0		1	0	0	0	0	0	0	71	785
STEAP3	55240	broad.mit.edu	37	2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	97					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572																																						ENST00000354888.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(289-291)tCt>tTt		STEAP family member 3, metalloreductase							82.0	70.0	74.0					2																	120003362		2203	4300	6503	SO:0001583	missense	55240	0	0					g.chr2:120003362C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.290C>T	chr2.hg19:g.120003362C>T	ENSP00000346961:p.Ser97Phe	1					STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F	p.S97F	NM_182915.2	NP_878919.2	1	3	4	2.010116	Q658P3	STEA3_HUMAN		3	794	+			A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	1	1	hg19	c.290C>T	CCDS2125.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077011	0.55753	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.96	4.96	0.65561	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.134765	0.51477	D	0.000091	T	0.62024	0.2394	M	0.78285	2.405	0.43118	D	0.994833	D;P;B	0.63880	0.993;0.952;0.296	D;P;B	0.64506	0.926;0.766;0.13	T	0.64373	-0.6423	9	.	.	.	-31.4585	13.1501	0.59484	0.0:0.8398:0.1602:0.0	.	97;107;97	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	97;97;97;107;97;97;97;97	ENSP00000376820:S97F;ENSP00000346961:S97F;ENSP00000396873:S97F;ENSP00000376822:S107F;ENSP00000376818:S97F;ENSP00000386510:S97F;ENSP00000376819:S97F;ENSP00000396214:S97F	.	S	+	2	0	0	STEAP3	119719832	119719832	0.999000	0.42202	0.986000	0.45419	0.631000	0.37964	3.669000	0.54561	2.576000	0.86940	0.655000	0.94253	TCT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_018234			63	62		149	148	1		1	1		0	0	37	0		1	9.999997e-01	0	14	0	44	0	63	149
STEAP3	55240	broad.mit.edu	37	2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T	rs374186156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	290	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGTACCAGCGCTTCCCCGA	0.667																																						ENST00000354888.5	1.000000	0.230000	1	3.300000e-01	0.480000	0.570100	0.480000	0.430000																										0				17						c.(868-870)Cgc>Tgc		STEAP family member 3, metalloreductase		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	32.0	31.0	31.0		868,868,898	3.6	0.8	2		31	1,8595		0,1,4297	no	missense,missense,missense	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	290/489,290/489,300/499	120005630	1,13001	2203	4298	6501	SO:0001583	missense	55240	8	121276	39				g.chr2:120005630C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.868C>T	chr2.hg19:g.120005630C>T	ENSP00000346961:p.Arg290Cys	1					STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C	p.R290C	NM_182915.2	NP_878919.2	1	3	4	2.010116	Q658P3	STEA3_HUMAN		4	1372	+			A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	1	1	hg19	c.868C>T	CCDS2125.1	0	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276574	0.80580	0.0	1.16E-4	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	4.49	3.61	0.41365	4.49	3.61	0.41365	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.94122	0.7380	9	.	.	.	-30.3131	13.0605	0.59003	0.1616:0.8383:0.0:0.0	.	290;300;290	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	290;290;290;300;290;290;290;290	ENSP00000376820:R290C;ENSP00000346961:R290C;ENSP00000396873:R290C;ENSP00000376822:R300C;ENSP00000376818:R290C;ENSP00000386510:R290C;ENSP00000376819:R290C;ENSP00000396214:R290C	.	R	+	1	0	0	STEAP3	119722100	119722100	1.000000	0.71417	0.836000	0.33094	0.963000	0.63663	4.725000	0.61979	1.107000	0.41642	0.462000	0.41574	CGC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	0	0	1		2	2	2	0		0	0	54		54	50	1	2.060000	-11.522040	1	0.170000	NM_018234			11	12		332	329	0		1	0		0	0	54	0		9.983470e-01	3.416194e-01	0	1	0	34	0	11	332
CFAP221	200373	broad.mit.edu	37	2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000413369.3	+	9	990	c.903G>T	c.(901-903)caG>caT	p.Q301H	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453																																						ENST00000413369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(901-903)caG>caT									67.0	73.0	71.0					2																	120362359		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr2:120362359G>T																												ENST00000413369.3:c.903G>T	chr2.hg19:g.120362359G>T	ENSP00000393222:p.Gln301His	1					PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H|PCDP1_ENST00000597189.1_3'UTR	p.Q301H	NM_001271049.1	NP_001257978	1	3	4	2.010116				9	990	+	Colorectal(110;0.196)			Missense_Mutation	SNP	ENST00000413369.3	1	0	hg19	c.903G>T	CCDS33282.2	1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436252	0.25813	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20200	2.09	5.41	-1.3	0.09259	5.41	-1.3	0.09259	.	0.785958	0.11282	N	0.580161	T	0.13329	0.0323	L	0.34521	1.04	0.09310	N	1	B;B	0.20261	0.043;0.032	B;B	0.20955	0.032;0.013	T	0.27123	-1.0083	10	0.45353	T	0.12	-0.0024	4.6372	0.12530	0.4275:0.3016:0.2709:0.0	.	145;301	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	H	15;301	ENSP00000393222:Q301H	ENSP00000295220:Q15H	Q	+	3	2	2	AC069154.2	120078829	120078829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.360000	0.08138	-0.302000	0.09304	CAG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				115	114		280	272	1		1	0		0	0	79	0		1	9.024836e-01	0	0	0	12	0	115	280
CFAP221	200373	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000413369.3	+	21	2242	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468																																						ENST00000413369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(2155-2157)Cac>Tac									90.0	89.0	89.0					2																	120397378		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr2:120397378C>T																												ENST00000413369.3:c.2155C>T	chr2.hg19:g.120397378C>T	ENSP00000393222:p.His719Tyr	1					PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	p.H719Y	NM_001271049.1	NP_001257978	1	3	4	2.010116				21	2242	+	Colorectal(110;0.196)			Missense_Mutation	SNP	ENST00000413369.3	1	0	hg19	c.2155C>T	CCDS33282.2	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375058	0.24857	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.13778	2.56	5.31	-2.63	0.06133	5.31	-2.63	0.06133	.	0.986712	0.08280	N	0.970138	T	0.07999	0.0200	N	0.14661	0.345	0.80722	D	1	P	0.45902	0.868	B	0.40134	0.32	T	0.37979	-0.9682	10	0.52906	T	0.07	-6.2867	9.6969	0.40163	0.7274:0.191:0.0:0.0816	.	719	Q4G0U5	PCDP1_HUMAN	Y	433;719	ENSP00000393222:H719Y	ENSP00000295220:H433Y	H	+	1	0	0	AC069154.2	120113848	120113848	0.747000	0.28283	0.977000	0.42913	0.208000	0.24298	-0.334000	0.07883	-0.266000	0.09339	0.655000	0.94253	CAC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-4.352404	1	0.170000				51	51		160	158	1		1	0		0	0	60	0		1	6.139664e-01	0	0	0	8	0	51	160
TMEM177	80775	broad.mit.edu	37	2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000424086.1	+	2	1179	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	236						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617																																						ENST00000424086.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.997944	0.990000	1.000000																										0				13						c.(706-708)Gcc>Acc		transmembrane protein 177							54.0	51.0	52.0					2																	120439135		2203	4300	6503	SO:0001583	missense	80775	0	0					g.chr2:120439135G>A	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.706G>A	chr2.hg19:g.120439135G>A	ENSP00000402661:p.Ala236Thr	1					TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000409951.1_Intron	p.A236T	NM_001105198.1	NP_001098668.1	1	3	4	2.010116	Q53S58	TM177_HUMAN		2	1179	+	Colorectal(110;0.196)		Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	1	1	hg19	c.706G>A	CCDS2128.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414262	0.62511	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.51574	0.7;0.7;0.7	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75357	-0.3346	10	0.87932	D	0	-1.1583	15.7392	0.77876	0.0:0.0:1.0:0.0	.	236	Q53S58	TM177_HUMAN	T	236;236;236;203	ENSP00000385966:A236T;ENSP00000402661:A236T;ENSP00000272521:A236T	ENSP00000272521:A236T	A	+	1	0	0	TMEM177	120155605	120155605	1.000000	0.71417	0.482000	0.27366	0.050000	0.14768	9.037000	0.93765	2.402000	0.81655	0.549000	0.68633	GCC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_030577			38	37		339	332	1		1	1		0	0	95	0		1	9.439901e-01	0	14	0	31	0	38	339
PTPN4	5775	broad.mit.edu	37	2	120692377	120692377	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400					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)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368																																						ENST00000263708.2	1.000000	0.690000	1	9.000000e-01	0.990000	0.962413	0.990000	1.000000																										0				30						c.(1198-1200)Cga>Tga		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						84.0	78.0	80.0					2																	120692377		2203	4300	6503	SO:0001630	splice_region_variant	5775	0	0					g.chr2:120692377C>T		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.1197-1C>T	chr2.hg19:g.120692377C>T		1					PTPN4_ENST00000544261.1_Splice_Site_p.R33*	p.R400*	NM_002830.3	NP_002821.1	1	3	4	2.010116	P29074	PTN4_HUMAN		15	1969	+			B2RBV8|Q9UDA7	Splice_Site	SNP	ENST00000263708.2	0	1	hg19	c.1198C>T	CCDS2129.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.167818	0.94768	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	400;33;26	.	ENSP00000263708:R400X	R	+	1	2	2	PTPN4	120408847	120408847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.890000	0.99128	0.650000	0.86243	CGA	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	0	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-19.997820	1	0.170000		Nonsense_Mutation		17	16		188	178	0		1	0		0	0	35	0		9.999548e-01	9.073578e-01	0	0	0	48	0	17	188
PTPN4	5775	broad.mit.edu	37	2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	428					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)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413																																						ENST00000263708.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1282-1284)Cca>Tca		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						144.0	128.0	133.0					2																	120692461		2203	4300	6503	SO:0001583	missense	5775	0	0					g.chr2:120692461C>T		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.1282C>T	chr2.hg19:g.120692461C>T	ENSP00000263708:p.Pro428Ser	1					PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	p.P428S	NM_002830.3	NP_002821.1	1	3	4	2.010116	P29074	PTN4_HUMAN		15	2053	+			B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	1	1	hg19	c.1282C>T	CCDS2129.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317165	0.81469	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.56103	0.48;0.48;0.48	5.75	3.88	0.44766	5.75	3.88	0.44766	.	0.046193	0.85682	D	0.000000	T	0.42268	0.1195	L	0.34521	1.04	0.50171	D	0.99985	B	0.25667	0.131	B	0.25140	0.058	T	0.26916	-1.0089	10	0.45353	T	0.12	.	13.0295	0.58835	0.129:0.747:0.1239:0.0	.	428	P29074	PTN4_HUMAN	S	428;61;54	ENSP00000263708:P428S;ENSP00000445841:P61S;ENSP00000387457:P54S	ENSP00000263708:P428S	P	+	1	0	0	PTPN4	120408931	120408931	0.999000	0.42202	0.756000	0.31282	0.979000	0.70002	4.104000	0.57790	0.828000	0.34709	0.650000	0.86243	CCA	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-6.093464	1	0.170000				96	95		248	243	1		1	1		0	0	51	0		1	9.963535e-01	0	5	0	20	0	96	248
PTPN4	5775	broad.mit.edu	37	2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	733	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)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388																																						ENST00000263708.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999906	0.990000	1.000000																										0				30						c.(2197-2199)aCt>aAt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						160.0	142.0	148.0					2																	120718447		2203	4300	6503	SO:0001583	missense	5775	0	0					g.chr2:120718447C>A		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.2198C>A	chr2.hg19:g.120718447C>A	ENSP00000263708:p.Thr733Asn	1					PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	p.T733N	NM_002830.3	NP_002821.1	1	3	4	2.010116	P29074	PTN4_HUMAN		23	2969	+			B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	1	1	hg19	c.2198C>A	CCDS2129.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978412|4.978412	0.92982|0.92982	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|D;D	0.14022|0.89552	2.54|-2.53;-2.53	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97660|0.97660	0.9233|0.9233	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.99081|0.99081	1.0837|1.0837	7|10	0.72032|0.87932	D|D	0.01|0	.|.	20.0119|20.0119	0.97458|0.97458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733	.|P29074	.|PTN4_HUMAN	Q|N	16|733;366	ENSP00000394706:H16Q|ENSP00000263708:T733N;ENSP00000445841:T366N	ENSP00000394706:H16Q|ENSP00000263708:T733N	H|T	+|+	3|2	2|0	2|0	PTPN4|PTPN4	120434917|120434917	120434917|120434917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.734000|7.734000	0.84928|0.84928	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAC|ACT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-19.956050	1	0.170000				63	62		520	512	1		1	1		0	0	113	0		1	9.718532e-01	0	7	0	42	0	63	520
EPB41L5	57669	broad.mit.edu	37	2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	597					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCTGCCACAAACAGGTACAGT	0.318																																						ENST00000263713.5	1.000000	0.360000	1	5.500000e-01	0.820000	0.796909	0.820000	1.000000																										0				26						c.(1789-1791)aAc>aGc		erythrocyte membrane protein band 4.1 like 5							53.0	54.0	54.0					2																	120903862		2203	4300	6503	SO:0001583	missense	57669	0	0					g.chr2:120903862A>G	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.1790A>G	chr2.hg19:g.120903862A>G	ENSP00000263713:p.Asn597Ser	1					EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	p.N597S	NM_020909.3	NP_065960.2	1	3	4	2.010116	Q9HCM4	E41L5_HUMAN		20	2004	+			Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	1	1	hg19	c.1790A>G	CCDS2130.1	0	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593401	0.13875	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.4;-1.41;-1.4	4.9	2.35	0.29111	4.9	2.35	0.29111	.	0.412471	0.25132	N	0.032889	T	0.68403	0.2997	L	0.46157	1.445	0.26220	N	0.979165	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.51252	-0.8729	10	0.20519	T	0.43	.	4.7015	0.12828	0.7389:0.0:0.0943:0.1668	.	597;597;597	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	S	597	ENSP00000263713:N597S;ENSP00000393856:N597S;ENSP00000390439:N597S	ENSP00000263713:N597S	N	+	2	0	0	EPB41L5	120620332	120620332	0.825000	0.29262	0.974000	0.42286	0.797000	0.45037	0.573000	0.23699	0.359000	0.24239	0.397000	0.26171	AAC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-12.053600	1	0.170000	NM_020909			8	8		140	137	0		1	0		0	0	29	0		9.891153e-01	4.907046e-02	0	0	0	6	0	8	140
RALB	5899	broad.mit.edu	37	2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W|RALB_ENST00000474855.2_Missense_Mutation_p.R157W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	135					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)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547																																						ENST00000272519.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				15						c.(403-405)Cgg>Tgg		v-ral simian leukemia viral oncogene homolog B							106.0	110.0	109.0					2																	121047235		2203	4300	6503	SO:0001583	missense	5899	1	121412	32				g.chr2:121047235C>T		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.403C>T	chr2.hg19:g.121047235C>T	ENSP00000272519:p.Arg135Trp	1					RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W	p.R135W	NM_002881.2	NP_002872.1	1	3	4	2.010116	P11234	RALB_HUMAN		4	673	+		Prostate(154;0.122)	B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	1	1	hg19	c.403C>T	CCDS2131.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757807	0.89843	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.4	4.48	0.54585	5.4	4.48	0.54585	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.68765	0.96;0.948;0.942	D	0.85333	0.1091	10	0.87932	D	0	.	13.5281	0.61607	0.274:0.726:0.0:0.0	.	157;156;135	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	W	157;157;135;135;156;135	ENSP00000402866:R157W;ENSP00000438764:R157W;ENSP00000272519:R135W;ENSP00000414224:R135W;ENSP00000384328:R156W;ENSP00000398162:R135W	ENSP00000272519:R135W	R	+	1	2	2	RALB	120763705	120763705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	2.813000	0.96785	0.561000	0.74099	CGG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-19.864060	1	0.170000	NM_002881			63	63		521	504	0		1	1		0	0	106	0		1	1	0	34	0	386	0	63	521
GLI2	2736	broad.mit.edu	37	2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577																																						ENST00000452319.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1744-1746)Cgg>Tgg		GLI family zinc finger 2							169.0	168.0	169.0					2																	121742107		2203	4300	6503	SO:0001583	missense	2736	0	0					g.chr2:121742107C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1744C>T	chr2.hg19:g.121742107C>T	ENSP00000390436:p.Arg582Trp	1					GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W	p.R582W			1	3	4	2.010116				12	1804	+	Renal(3;0.0496)	Prostate(154;0.0623)		Missense_Mutation	SNP	ENST00000452319.1	1	1	hg19	c.1744C>T	CCDS33283.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169755	0.78452	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.53640	0.61;0.61;0.61	4.48	3.52	0.40303	4.48	3.52	0.40303	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	0.60130	0.2245	L	0.52905	1.665	0.58432	D	0.999996	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;0.998	T	0.62450	-0.6852	10	0.87932	D	0	.	9.9524	0.41647	0.4156:0.5844:0.0:0.0	.	582;565;237;237;254	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	582;582;254	ENSP00000390436:R582W;ENSP00000354586:R582W;ENSP00000312694:R254W	ENSP00000312694:R254W	R	+	1	2	2	GLI2	121458577	121458577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.261000	0.58841	2.309000	0.77851	0.561000	0.74099	CGG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	1		2	2	2	0		0	0	240		240	237	1	2.060000	-2.690405	1	0.170000	NM_005270			125	122		990	969	1		1	1		0	0	240	0		1	9.410955e-01	0	4	0	35	0	125	990
GLI2	2736	broad.mit.edu	37	2	121743937	121743937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.G352G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711																																						ENST00000452319.1	1.000000	0.440000	1	5.700000e-01	0.740000	0.766914	0.740000	1.000000																										0				64						c.(2038-2040)ggC>ggT		GLI family zinc finger 2							34.0	42.0	39.0					2																	121743937		2203	4299	6502	SO:0001819	synonymous_variant	2736	4	121390	35				g.chr2:121743937C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2040C>T	chr2.hg19:g.121743937C>T		1					GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.G352G	p.G680G			1	3	4	2.010116				13	2100	+	Renal(3;0.0496)	Prostate(154;0.0623)		Silent	SNP	ENST00000452319.1	1	1	hg19	c.2040C>T	CCDS33283.1	0																																																																																								2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-19.829470	1	0.170000	NM_005270			19	19		347	343	0		1	0		0	0	67	0		9.999906e-01	3.936509e-01	0	1	0	24	0	19	347
GLI2	2736	broad.mit.edu	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657																																						ENST00000452319.1	1.000000	0.580000	1	7.500000e-01	0.990000	0.905607	0.990000	1.000000																										0				64						c.(2158-2160)Cgc>Tgc		GLI family zinc finger 2							60.0	57.0	58.0					2																	121744055		2203	4300	6503	SO:0001583	missense	2736	2	121412	33				g.chr2:121744055C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2158C>T	chr2.hg19:g.121744055C>T	ENSP00000390436:p.Arg720Cys	1					GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C	p.R720C			1	3	4	2.010116				13	2218	+	Renal(3;0.0496)	Prostate(154;0.0623)		Missense_Mutation	SNP	ENST00000452319.1	1	1	hg19	c.2158C>T	CCDS33283.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	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	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	0	GLI2	121460525	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-19.995610	1	0.170000	NM_005270			18	18		243	239	0		1	0		0	0	40	0		9.999817e-01	5.739272e-01	0	1	0	26	0	18	243
TFCP2L1	29842	broad.mit.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547																																						ENST00000263707.5	1.000000	0.670000	1	9.100000e-01	0.990000	0.963536	0.990000	1.000000																										0				22						c.(460-462)Gag>Aag		transcription factor CP2-like 1							66.0	62.0	63.0					2																	122005784		2203	4300	6503	SO:0001583	missense	29842	0	0					g.chr2:122005784C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.460G>A	chr2.hg19:g.122005784C>T	ENSP00000263707:p.Glu154Lys	1						p.E154K	NM_014553.2	NP_055368.1	1	3	4	2.010116	Q9NZI6	TF2L1_HUMAN		5	557	-	Renal(3;0.01)		Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	1	1	hg19	c.460G>A	CCDS2134.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	0	TFCP2L1	121722254	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.142837	1	0.170000	NM_014553			13	13		138	129	1		1	1		0	0	25	0		9.994167e-01	9.979922e-01	0	24	0	92	0	13	138
CLASP1	23332	broad.mit.edu	37	2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000263710.4	-	10	1317	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	310					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)			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)					TGTACTACAGGTACATCATCA	0.313																																						ENST00000263710.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(928-930)Cct>Tct		cytoplasmic linker associated protein 1							83.0	80.0	81.0					2																	122220119		1851	4101	5952	SO:0001583	missense	23332	0	0					g.chr2:122220119G>A	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.928C>T	chr2.hg19:g.122220119G>A	ENSP00000263710:p.Pro310Ser	1					CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S	p.P310S	NM_015282.2	NP_056097.1	1	3	4	2.010116	Q7Z460	CLAP1_HUMAN		10	1317	-	Renal(3;0.0496)		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	1	1	hg19	c.928C>T		1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459774	0.84317	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.15;1.96;1.97;1.94;0.65;1.97;0.5;-0.19	5.13	5.13	0.70059	5.13	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.49559	0.877;0.925;0.9;0.917	B;P;B;P	0.47075	0.335;0.536;0.412;0.521	T	0.76274	-0.3019	10	0.87932	D	0	-0.6289	17.2951	0.87168	0.0:0.0:1.0:0.0	.	310;310;310;310	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	310;310;310;310;79;310;78;79;79	ENSP00000263710:P310S;ENSP00000389372:P310S;ENSP00000380717:P310S;ENSP00000441625:P310S;ENSP00000441770:P79S;ENSP00000386442:P310S;ENSP00000392886:P79S;ENSP00000402101:P79S	ENSP00000263710:P310S	P	-	1	0	0	CLASP1	121936589	121936589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.990000	0.76225	2.824000	0.97209	0.655000	0.94253	CCT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_015282			22	22		46	44	1		1	1		0	0	13	0		9.999997e-01	9.998483e-01	0	10	0	26	0	22	46
NIFK	84365	broad.mit.edu	37	2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		103	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CATTGTTTCAGCAACTATTTT	0.463																																						ENST00000285814.4	1.000000	0.690000	1	8.500000e-01	0.990000	0.948437	0.990000	1.000000																										0				12						c.(307-309)gCt>gAt									95.0	84.0	88.0					2																	122489716		2203	4300	6503	SO:0001583	missense	0	2	121410	35				g.chr2:122489716G>T																												ENST00000285814.4:c.308C>A	chr2.hg19:g.122489716G>T	ENSP00000285814:p.Ala103Asp	1						p.A103D	NM_032390.4	NP_115766.3	1	3	4	2.010116	Q9BYG3	MK67I_HUMAN		3	380	-			A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	1	1	hg19	c.308C>A	CCDS2135.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165049	0.78339	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.16457	2.34;2.34	5.14	4.25	0.50352	5.14	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048198	0.85682	D	0.000000	T	0.51415	0.1673	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63528	-0.6617	10	0.87932	D	0	-17.7292	11.7232	0.51693	0.0:0.1781:0.8219:0.0	.	103;103	B4DSM4;Q9BYG3	.;MK67I_HUMAN	D	103;103;71	ENSP00000285814:A103D;ENSP00000398116:A71D	ENSP00000285814:A103D	A	-	2	0	0	MKI67IP	122206186	122206186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	1.153000	0.42468	0.655000	0.94253	GCT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-8.568205	1	0.170000				28	27		342	331	1		1	1		0	0	87	0		1	9.998955e-01	0	32	0	143	0	28	342
SNTG2	54221	broad.mit.edu	37	2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	295					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			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)		CTCTCCTTCCGACCAGGTAGG	0.473																																						ENST00000308624.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999882	0.990000	1.000000																										0				52						c.(883-885)Gac>Aac		syntrophin, gamma 2							170.0	161.0	164.0					2																	1243543		2076	4217	6293	SO:0001583	missense	54221	1	121006	26				g.chr2:1243543G>A	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.883G>A	chr2.hg19:g.1243543G>A	ENSP00000311837:p.Asp295Asn	1					SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	p.D295N	NM_018968.3	NP_061841.2	1	2	3	2.183349	Q9NY99	SNTG2_HUMAN		11	1012	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	1	1	hg19	c.883G>A	CCDS46220.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988159	0.35036	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.6;-0.37	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.106304	0.64402	D	0.000007	T	0.66117	0.2757	M	0.70595	2.14	0.58432	D	0.999992	B;B	0.28667	0.219;0.14	B;B	0.23716	0.048;0.009	T	0.67047	-0.5769	10	0.42905	T	0.14	.	16.9182	0.86157	0.0:0.0:1.0:0.0	.	168;295	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	295;168	ENSP00000311837:D295N;ENSP00000385020:D168N	ENSP00000311837:D295N	D	+	1	0	0	SNTG2	1226094	1226094	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	3.705000	0.54823	2.338000	0.79540	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-12.026820	1	0.170000	NM_018968			18	18		93	91	1		1			0	0	19	0		9.999878e-01	0	0	0	0	0	0	18	93
TSN	7247	broad.mit.edu	37	2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000389682.3	+	6	714	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_ENST00000409193.1_Missense_Mutation_p.V151A|TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000498545.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	156					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512																																						ENST00000389682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				12						c.(466-468)gTc>gCc		translin							235.0	238.0	237.0					2																	122522723		2203	4300	6503	SO:0001583	missense	7247	0	0					g.chr2:122522723T>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.467T>C	chr2.hg19:g.122522723T>C	ENSP00000374332:p.Val156Ala	1					TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000409193.1_Missense_Mutation_p.V151A	p.V156A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	1	3	4	2.010116	Q15631	TSN_HUMAN		6	714	+		Ovarian(717;0.0563)|Prostate(154;0.116)	B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	1	1	hg19	c.467T>C	CCDS33284.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436439|4.436439	0.83885|0.83885	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.055540	.|0.64402	.|D	.|0.000001	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.99;0.995	D|D	0.87835|0.87835	0.2647|0.2647	5|9	.|0.72032	.|D	.|0.01	-3.0948|-3.0948	15.3851|15.3851	0.74691|0.74691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109;156	.|B3KRM8;Q15631	.|.;TSN_HUMAN	P|A	162|156;122;151	.|.	.|ENSP00000374332:V156A	S|V	+|+	1|2	0|0	0|0	TSN|TSN	122239193|122239193	122239193|122239193	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.766000|0.766000	0.43426|0.43426	7.675000|7.675000	0.84002|0.84002	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCA|GTC	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	1	0	1		2	2	2	0		0	0	308		308	305	1	2.060000	-20.000000	1	0.170000	NM_004622			160	159		1485	1458	1		1	1		0	0	308	0		1	1	0	45	0	262	0	160	1485
CNTNAP5	129684	broad.mit.edu	37	2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_ENST00000423939.2_3'UTR|AC079154.1_ENST00000438816.1_RNA	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TTCTTTACCACGGCTGACCAG	0.552																																						ENST00000431078.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998495	0.990000	1.000000																										0				176						c.(16-18)Cgg>Tgg		contactin associated protein-like 5							122.0	127.0	125.0					2																	124783243		2001	4165	6166	SO:0001583	missense	129684	1	120918	36				g.chr2:124783243C>T	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.16C>T	chr2.hg19:g.124783243C>T	ENSP00000399013:p.Arg6Trp	1					AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	p.R6W	NM_130773.2	NP_570129.1	1	3	4	2.010116	Q8WYK1	CNTP5_HUMAN		1	380	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	1	1	hg19	c.16C>T	CCDS46401.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707496	0.48412	.	.	ENSG00000155052	ENST00000431078	D	0.88277	-2.36	5.29	-3.8	0.04307	5.29	-3.8	0.04307	.	1.453780	0.04752	N	0.424658	T	0.81517	0.4839	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65158	-0.6236	10	0.87932	D	0	.	1.4909	0.02456	0.3287:0.3394:0.1712:0.1607	.	6	Q8WYK1	CNTP5_HUMAN	W	6	ENSP00000399013:R6W	ENSP00000399013:R6W	R	+	1	2	2	CNTNAP5	124499713	124499713	0.000000	0.05858	0.818000	0.32626	0.957000	0.61999	-1.557000	0.02166	-0.327000	0.08551	-0.268000	0.10319	CGG	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-13.351090	1	0.170000				36	35		310	300	1		1			0	0	50	0		1	0	0	0	0	0	0	36	310
CNTNAP5	129684	broad.mit.edu	37	2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	804	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TACCTCCACTTTCCTACCTTC	0.413																																						ENST00000431078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(2410-2412)tTt>tGt		contactin associated protein-like 5							133.0	125.0	128.0					2																	125521605		1843	4093	5936	SO:0001583	missense	129684	0	0					g.chr2:125521605T>G	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.2411T>G	chr2.hg19:g.125521605T>G	ENSP00000399013:p.Phe804Cys	1						p.F804C	NM_130773.2	NP_570129.1	1	3	4	2.010116	Q8WYK1	CNTP5_HUMAN		16	2775	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	1	1	hg19	c.2411T>G	CCDS46401.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356243	0.82243	.	.	ENSG00000155052	ENST00000431078	T	0.45276	0.9	5.9	5.9	0.94986	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000074	T	0.69314	0.3097	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.78902	-0.2021	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.0:0.0:1.0	.	804	Q8WYK1	CNTP5_HUMAN	C	804	ENSP00000399013:F804C	ENSP00000399013:F804C	F	+	2	0	0	CNTNAP5	125238075	125238075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.927000	0.87577	2.263000	0.75096	0.533000	0.62120	TTT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000				137	137		312	306	1		1	0		0	0	68	0		1	0	0	0	0	1	0	137	312
CNTNAP5	129684	broad.mit.edu	37	2	125530375	125530375	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TCCGGTTTCAGCTCCTTCAGA	0.458																																						ENST00000431078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.e17-1		contactin associated protein-like 5							141.0	129.0	133.0					2																	125530375		1932	4129	6061	SO:0001630	splice_region_variant	129684	0	0					g.chr2:125530375G>A	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.2531-1G>A	chr2.hg19:g.125530375G>A		1							NM_130773.2	NP_570129.1	1	3	4	2.010116	Q8WYK1	CNTP5_HUMAN		17	2894	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	1	1	hg19		CCDS46401.1	1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454110	0.84209	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CNTNAP5	125246845	125246845	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.304000	0.96190	2.594000	0.87642	0.645000	0.84053	.	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	0		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000		Intron		74	71		198	195	1		1			0	0	60	0		1	0	0	0	0	0	0	74	198
CNTNAP5	129684	broad.mit.edu	37	2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	853	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		CTTTGCCATCGATGTTGGGAA	0.502																																						ENST00000431078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(2557-2559)Gat>Aat		contactin associated protein-like 5							171.0	158.0	162.0					2																	125530402		1929	4132	6061	SO:0001583	missense	129684	0	0					g.chr2:125530402G>A	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.2557G>A	chr2.hg19:g.125530402G>A	ENSP00000399013:p.Asp853Asn	1						p.D853N	NM_130773.2	NP_570129.1	1	3	4	2.010116	Q8WYK1	CNTP5_HUMAN		17	2921	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	1	1	hg19	c.2557G>A	CCDS46401.1	1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077372	0.76415	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.63	5.63	0.86233	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000169	D	0.86606	0.5973	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85406	0.1134	10	0.41790	T	0.15	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	853	Q8WYK1	CNTP5_HUMAN	N	853	ENSP00000399013:D853N	ENSP00000399013:D853N	D	+	1	0	0	CNTNAP5	125246872	125246872	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	GAT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	0		2	2	2	0		0	0	78		78	76	1	2.060000	-5.284640	1	0.170000				90	88		269	265	1		1	0		0	0	78	0		1	0	0	0	0	1	0	90	269
CNTNAP5	129684	broad.mit.edu	37	2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1004					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		GTTTTTGAGGCTGGCACGTCG	0.428																																						ENST00000431078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(3010-3012)gCt>gAt		contactin associated protein-like 5							68.0	65.0	66.0					2																	125555694		1909	4114	6023	SO:0001583	missense	129684	0	0					g.chr2:125555694C>A	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.3011C>A	chr2.hg19:g.125555694C>A	ENSP00000399013:p.Ala1004Asp	1						p.A1004D	NM_130773.2	NP_570129.1	1	3	4	2.010116	Q8WYK1	CNTP5_HUMAN		19	3375	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	0	1	hg19	c.3011C>A	CCDS46401.1	1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427269	0.25726	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.93	4.14	0.48551	5.93	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.132089	0.33364	N	0.004998	T	0.61540	0.2355	N	0.21194	0.64	0.09310	N	1	B	0.33583	0.418	B	0.24006	0.05	T	0.53322	-0.8455	10	0.45353	T	0.12	.	11.7401	0.51788	0.0:0.8584:0.0:0.1416	.	1004	Q8WYK1	CNTP5_HUMAN	D	1004	ENSP00000399013:A1004D	ENSP00000399013:A1004D	A	+	2	0	0	CNTNAP5	125272164	125272164	0.057000	0.20700	0.739000	0.30968	0.641000	0.38312	0.819000	0.27308	0.851000	0.35264	-0.136000	0.14681	GCT	2.537313e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.999960	1	0.170000				31	29		87	85	0		1			0	0	9	0		1	0	0	0	0	0	0	31	87
CYP27C1	339761	broad.mit.edu	37	2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	93						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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562																																						ENST00000335247.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(277-279)aGc>aAc		cytochrome P450, family 27, subfamily C, polypeptide 1							116.0	115.0	116.0					2																	127958808		2203	4300	6503	SO:0001583	missense	339761	0	0					g.chr2:127958808C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.278G>A	chr2.hg19:g.127958808C>T	ENSP00000334128:p.Ser93Asn	1					CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	p.S93N	NM_001001665.3	NP_001001665.3	1	3	4	2.202051	Q4G0S4	C27C1_HUMAN		3	408	-	Colorectal(110;0.1)		Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	1	1	hg19	c.278G>A	CCDS33285.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943301	0.73672	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69175	-0.38;-0.38	3.74	3.74	0.42951	3.74	3.74	0.42951	.	0.047866	0.85682	D	0.000000	T	0.62466	0.2430	N	0.20845	0.615	0.44852	D	0.997866	D	0.56287	0.975	P	0.52856	0.711	T	0.65340	-0.6192	10	0.39692	T	0.17	-15.14	15.8937	0.79322	0.0:1.0:0.0:0.0	.	93	Q4G0S4	C27C1_HUMAN	N	93	ENSP00000334128:S93N;ENSP00000387198:S93N	ENSP00000334128:S93N	S	-	2	0	0	CYP27C1	127675278	127675278	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	6.364000	0.73086	1.797000	0.52628	0.561000	0.74099	AGC	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	0	0	1		17	2	2	1		1	1	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_001001665			101	100		542	536	1		1			1	0	136	0		1	0	0	0	0	0	0	101	542
ERCC3	2071	broad.mit.edu	37	2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000285398.2	-	3	431	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	113					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)			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)		TACTCATGCACATGGGTTGGT	0.507			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285398.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (B)	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2q21	2071	Mis, S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""				E	E		skin basal cell, skin squamous cell, melanoma			0				31						c.(337-339)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementation group 3							117.0	103.0	108.0					2																	128050320		2203	4300	6503	SO:0001583	missense	2071	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr2:128050320C>T	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.337G>A	chr2.hg19:g.128050320C>T	ENSP00000285398:p.Val113Met	1					ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	p.V113M	NM_000122.1	NP_000113.1	1	3	4	2.202051	P19447	ERCC3_HUMAN		3	431	-	Colorectal(110;0.1)		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	1	1	hg19	c.337G>A	CCDS2144.1	1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085569	0.36758	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74002	-0.8;-0.8	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.307501	0.31847	N	0.006968	T	0.56016	0.1957	N	0.21194	0.64	0.33026	D	0.529526	B	0.18461	0.028	B	0.22386	0.039	T	0.57159	-0.7859	10	0.24483	T	0.36	-26.3485	5.6572	0.17648	0.0:0.7656:0.0:0.2344	.	113	P19447	ERCC3_HUMAN	M	113;49	ENSP00000285398:V113M;ENSP00000444796:V49M	ENSP00000285398:V113M	V	-	1	0	0	ERCC3	127766790	127766790	0.416000	0.25424	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	2.475000	0.83589	0.650000	0.86243	GTG	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_000122			91	91		294	291	1		1	1		0	0	82	0		1	1	0	38	0	64	0	91	294
MAP3K2	10746	broad.mit.edu	37	2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	TTTGGCCTCTACAAAAATCCG	0.473																																						ENST00000409947.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999923	0.990000	1.000000																										0				7						c.(1795-1797)gTa>gCa		mitogen-activated protein kinase kinase kinase 2	Bosutinib(DB06616)						60.0	62.0	62.0					2																	128065219		2035	4203	6238	SO:0001583	missense	10746	0	0					g.chr2:128065219A>G	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.1796T>C	chr2.hg19:g.128065219A>G	ENSP00000387246:p.Val599Ala	1					MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A	p.V599A			1	3	4	2.202051	Q9Y2U5	M3K2_HUMAN		17	2078	-	Colorectal(110;0.1)		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	0	1	hg19	c.1796T>C	CCDS46404.1	1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683960	0.47991	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63744	-0.06;-0.06	5.7	4.55	0.56014	5.7	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000006	T	0.49745	0.1575	L	0.42008	1.315	0.39428	D	0.967031	B	0.15473	0.013	B	0.16722	0.016	T	0.40590	-0.9555	10	0.13108	T	0.6	.	9.7683	0.40574	0.8608:0.0:0.1392:0.0	.	599	Q9Y2U5	M3K2_HUMAN	A	599	ENSP00000387246:V599A;ENSP00000343463:V599A	ENSP00000343463:V599A	V	-	2	0	0	MAP3K2	127781689	127781689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.321000	0.65846	1.091000	0.41335	0.528000	0.53228	GTA	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-10.665430	1	0.170000	NM_006609			11	11		41	41	1		1	1		0	0	11	0		9.989461e-01	9.999986e-01	0	29	0	100	0	11	41
MAP3K2	10746	broad.mit.edu	37	2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	95	OPR.				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)			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)	GTCATCTTGAGTAGTTAATGG	0.383																																						ENST00000409947.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(283-285)aCt>aTt		mitogen-activated protein kinase kinase kinase 2	Bosutinib(DB06616)						69.0	62.0	65.0					2																	128088062		1882	4122	6004	SO:0001583	missense	10746	0	0					g.chr2:128088062G>A	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.284C>T	chr2.hg19:g.128088062G>A	ENSP00000387246:p.Thr95Ile	1					MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I	p.T95I			1	3	4	2.202051	Q9Y2U5	M3K2_HUMAN		6	566	-	Colorectal(110;0.1)		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	1	1	hg19	c.284C>T	CCDS46404.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813786	0.90790	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23552	1.9;1.9	6.07	6.07	0.98685	6.07	6.07	0.98685	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.47716	1.5	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	T	0.03630	-1.1018	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	95	Q9Y2U5	M3K2_HUMAN	I	95	ENSP00000387246:T95I;ENSP00000343463:T95I	ENSP00000343463:T95I	T	-	2	0	0	MAP3K2	127804532	127804532	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.177000	0.77650	2.890000	0.99128	0.585000	0.79938	ACT	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_006609			23	23		82	81	1		1	1		0	0	25	0		9.999997e-01	9.999997e-01	0	24	0	78	0	23	82
PROC	5624	broad.mit.edu	37	2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T	rs368520760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000234071.3	+	9	1429	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y	PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592																																						ENST00000234071.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1342-1344)Cac>Tac		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	C	TYR/HIS	1,4405		0,1,2202	87.0	87.0	87.0		1342	2.2	0.1	2		87	0,8600		0,0,4300	no	missense	PROC	NM_000312.3	83	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/462	128186478	1,13005	2203	4300	6503	SO:0001583	missense	5624	1	121412	15				g.chr2:128186478C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1342C>T	chr2.hg19:g.128186478C>T	ENSP00000234071:p.His448Tyr	1					PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y	p.H448Y	NM_000312.3	NP_000303.1	1	3	4	2.202051	P04070	PROC_HUMAN		9	1429	+	Colorectal(110;0.1)		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	1	1	hg19	c.1342C>T	CCDS2145.1	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500767	0.00157	2.27E-4	0.0	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.95	2.16	0.27623	4.95	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.160062	0.30043	N	0.010543	T	0.78541	0.4299	N	0.16833	0.445	0.22081	N	0.999379	B;B;B;B	0.19200	0.034;0.002;0.003;0.002	B;B;B;B	0.15052	0.012;0.002;0.005;0.002	T	0.62511	-0.6839	10	0.02654	T	1	.	4.0811	0.09927	0.2647:0.5:0.0:0.2353	.	503;504;482;448	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	Y	448;407;503;482;448	ENSP00000234071:H448Y;ENSP00000404030:H503Y;ENSP00000386679:H482Y;ENSP00000409543:H448Y	ENSP00000234071:H448Y	H	+	1	0	0	PROC	127902948	127902948	0.020000	0.18652	0.120000	0.21714	0.004000	0.04260	0.079000	0.14782	0.280000	0.22209	0.655000	0.94253	CAC	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-20.000000	1	0.170000	NM_000312			185	184		613	607	1		1	1		0	0	149	0		1	9.131131e-01	0	11	0	5	0	185	613
IWS1	55677	broad.mit.edu	37	2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	594	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284																																						ENST00000295321.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999506	0.990000	1.000000																										0				28						c.(1780-1782)gTa>gCa		IWS1 homolog (S. cerevisiae)							77.0	84.0	81.0					2																	128252466		2201	4287	6488	SO:0001583	missense	55677	0	0					g.chr2:128252466A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1781T>C	chr2.hg19:g.128252466A>G	ENSP00000295321:p.Val594Ala	1					IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	p.V594A	NM_017969.2	NP_060439.2	1	3	4	2.202051	Q96ST2	IWS1_HUMAN		8	2040	-	Colorectal(110;0.1)		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	1	1	hg19	c.1781T>C	CCDS2146.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198746	0.79015	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.18016	2.24	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.118708	0.56097	D	0.000027	T	0.38188	0.1031	M	0.71036	2.16	0.80722	D	1	P	0.51537	0.946	P	0.57720	0.826	T	0.11372	-1.0590	10	0.59425	D	0.04	-19.5794	16.1809	0.81898	1.0:0.0:0.0:0.0	.	594	Q96ST2	IWS1_HUMAN	A	594;547	ENSP00000295321:V594A	ENSP00000295321:V594A	V	-	2	0	0	IWS1	127968936	127968936	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	GTA	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_017969			34	34		266	261	1		1	1		0	0	55	0		1	9.999992e-01	0	37	0	137	0	34	266
MYO7B	4648	broad.mit.edu	37	2	128366289	128366289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000409816.2	+	21	2682	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000389524.4_Silent_p.L884L|MYO7B_ENST00000428314.1_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	884	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		GCAGGCGCCGCTGGTCATCCC	0.657																																						ENST00000409816.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2650-2652)Ctg>Ttg		myosin VIIB							24.0	27.0	26.0					2																	128366289		2005	4153	6158	SO:0001819	synonymous_variant	4648	0	0					g.chr2:128366289C>T		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.2650C>T	chr2.hg19:g.128366289C>T		1					MYO7B_ENST00000428314.1_Silent_p.L884L|MYO7B_ENST00000389524.4_Silent_p.L884L	p.L884L			1	3	4	2.202051	Q6PIF6	MYO7B_HUMAN		21	2682	+	Colorectal(110;0.1)		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	1	1	hg19	c.2650C>T	CCDS46405.1	1																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	XM_291001			37	37		122	121	1		1	1		0	0	23	0		1	7.146554e-01	0	6	0	4	0	37	122
MYO7B	4648	broad.mit.edu	37	2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000409816.2	+	27	3730	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I|MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1233	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		CAGGGCCTCAGCGACCACCTG	0.627																																						ENST00000409816.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				75						c.(3697-3699)aGc>aTc		myosin VIIB							54.0	63.0	60.0					2																	128380907		2143	4243	6386	SO:0001583	missense	4648	0	0					g.chr2:128380907G>T		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.3698G>T	chr2.hg19:g.128380907G>T	ENSP00000386461:p.Ser1233Ile	1					MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I	p.S1233I			1	3	4	2.202051	Q6PIF6	MYO7B_HUMAN		27	3730	+	Colorectal(110;0.1)		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	1	1	hg19	c.3698G>T	CCDS46405.1	1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025394	0.35701	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.82	-5.52	0.02560	4.82	-5.52	0.02560	Band 4.1 domain (1);FERM domain (1);	0.720633	0.13276	N	0.400116	T	0.61553	0.2356	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52026	-0.8630	10	0.62326	D	0.03	.	6.6697	0.23062	0.4751:0.3805:0.1445:0.0	.	1233	Q6PIF6	MYO7B_HUMAN	I	1233;1233;86;1233;86;86	ENSP00000374175:S1233I;ENSP00000415090:S1233I;ENSP00000386461:S1233I;ENSP00000404927:S86I;ENSP00000386850:S86I	ENSP00000272666:S86I	S	+	2	0	0	MYO7B	128097377	128097377	0.025000	0.19082	0.016000	0.15963	0.778000	0.44026	0.407000	0.21049	-0.967000	0.03582	0.491000	0.48974	AGC	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	XM_291001			25	23		132	128	1		1	1		0	0	28	0		9.999999e-01	8.028763e-01	0	9	0	9	0	25	132
MYO7B	4648	broad.mit.edu	37	2	128389839	128389839	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	ENST00000409816.2	+	37	5222	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	MYO7B_ENST00000409090.1_Silent_p.G583G|MYO7B_ENST00000389524.4_Silent_p.G1731G|MYO7B_ENST00000428314.1_Silent_p.G1730G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1730	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		AAGAGCGGGGCTGGCAGCTGC	0.672																																						ENST00000409816.2	1.000000	0.270000	1	4.000000e-01	0.590000	0.649269	0.590000	0.500000																										0				75						c.(5188-5190)ggC>ggA		myosin VIIB							13.0	17.0	16.0					2																	128389839		1894	4101	5995	SO:0001819	synonymous_variant	4648	0	0					g.chr2:128389839C>A		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.5190C>A	chr2.hg19:g.128389839C>A		1					MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000389524.4_Silent_p.G1731G|MYO7B_ENST00000409090.1_Silent_p.G583G	p.G1730G			1	3	4	2.202051	Q6PIF6	MYO7B_HUMAN		37	5222	+	Colorectal(110;0.1)		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	0	1	hg19	c.5190C>A	CCDS46405.1	0																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-11.323240	1	0.170000	XM_291001			9	8		222	216	0		1	1		0	0	38	0		9.936504e-01	3.798192e-01	0	2	0	29	0	9	222
GPR17	2840	broad.mit.edu	37	2	128408687	128408687	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000272644.3	+	3	536	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	154					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCATCAGCGCCGACCGTT	0.607																																						ENST00000272644.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.988798	0.990000	1.000000																										0				19						c.(460-462)agC>agT		G protein-coupled receptor 17							125.0	104.0	111.0					2																	128408687		2203	4300	6503	SO:0001819	synonymous_variant	2840	2	121412	39				g.chr2:128408687C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.462C>T	chr2.hg19:g.128408687C>T		1					LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron	p.S154S	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	1	3	4	2.202051	Q13304	GPR17_HUMAN		3	536	+	Colorectal(110;0.1)	Ovarian(717;0.15)	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	1	1	hg19	c.462C>T	CCDS2148.1	1																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1	1	0	1		2	2	2	0		0	0	105		105	102	1	2.060000	-15.393410	1	0.170000				63	61		688	673	0		1	0		0	0	105	0		1	0	0	0	0	1	0	63	688
LIMS2	55679	broad.mit.edu	37	2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000355119.4	-	4	521	c.356G>A	c.(355-357)gGc>gAc	p.G119D	LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000409455.1_Missense_Mutation_p.G114D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	119	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632																																						ENST00000355119.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(355-357)gGc>gAc		LIM and senescent cell antigen-like domains 2							88.0	84.0	86.0					2																	128412001		2203	4300	6503	SO:0001583	missense	55679	0	0					g.chr2:128412001C>T	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.356G>A	chr2.hg19:g.128412001C>T	ENSP00000347240:p.Gly119Asp	1					LIMS2_ENST00000409455.1_Missense_Mutation_p.G114D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D	p.G119D	NM_001161403.1	NP_001154875.1	1	3	4	2.202051	Q7Z4I7	LIMS2_HUMAN		4	521	-	Colorectal(110;0.1)		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	1	1	hg19	c.356G>A	CCDS54395.1	1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.799268	0.70567	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.37	5.37	0.77165	5.37	5.37	0.77165	Zinc finger, LIM-type (4);	0.106914	0.64402	D	0.000004	D	0.92678	0.7673	M	0.63428	1.95	0.80722	D	1	P;D;D	0.63046	0.875;0.983;0.992	P;P;P	0.59357	0.614;0.836;0.856	D	0.92089	0.5679	10	0.44086	T	0.13	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	141;119;143	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	141;119;143;114;114;114;114;141;114	ENSP00000443794:G141D;ENSP00000347240:G119D;ENSP00000326888:G143D;ENSP00000386383:G114D;ENSP00000386637:G114D;ENSP00000387002:G114D	ENSP00000326888:G143D	G	-	2	0	0	LIMS2	128128471	128128471	1.000000	0.71417	0.909000	0.35828	0.102000	0.19082	5.983000	0.70540	2.523000	0.85059	0.609000	0.83330	GGC	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_017980			90	90		418	413	1		1	0		0	0	88	0		1	9.999995e-01	0	0	0	98	0	90	418
WDR33	55339	broad.mit.edu	37	2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1035					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)		GGTCCTCCTCGCCCCTCAAAT	0.617																																						ENST00000322313.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3103-3105)Cga>Tga		WD repeat domain 33							123.0	125.0	124.0					2																	128471362		2203	4300	6503	SO:0001587	stop_gained	55339	0	0					g.chr2:128471362G>A		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.3103C>T	chr2.hg19:g.128471362G>A	ENSP00000325377:p.Arg1035*	1						p.R1035*	NM_018383.4	NP_060853.3	1	3	4	2.202051	Q9C0J8	WDR33_HUMAN		18	3261	-	Colorectal(110;0.1)		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	0	1	hg19	c.3103C>T	CCDS2150.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.042449	0.99046	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.86	0.63082	5.81	4.86	0.63082	.	0.068596	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.982	13.5976	0.62000	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1035	.	ENSP00000325377:R1035X	R	-	1	2	2	WDR33	128187832	128187832	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.170000	0.31883	2.738000	0.93877	0.655000	0.94253	CGA	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	1		2	2	2	0		0	0	208		208	207	1	2.060000	-20.000000	1	0.170000	NM_018383			216	209		1111	1092	1		1	1		0	0	208	0		1	9.999926e-01	0	2	0	82	0	216	1111
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000409658.3_Missense_Mutation_p.A2T|WDR33_ENST00000393006.1_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)		ATTTCTGTAGCCATGGTGATG	0.408																																						ENST00000322313.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(4-6)Gct>Act		WD repeat domain 33							73.0	74.0	73.0					2																	128528552		2203	4300	6503	SO:0001583	missense	55339	0	0					g.chr2:128528552C>T		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.4G>A	chr2.hg19:g.128528552C>T	ENSP00000325377:p.Ala2Thr	1					WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	p.A2T	NM_018383.4	NP_060853.3	1	3	4	2.202051	Q9C0J8	WDR33_HUMAN		2	162	-	Colorectal(110;0.1)		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	1	1	hg19	c.4G>A	CCDS2150.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736203	0.89482	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56381	0.1981	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.74674	0.981;0.971;0.984	T	0.67133	-0.5747	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	T	2	ENSP00000325377:A2T;ENSP00000376730:A2T;ENSP00000387186:A2T;ENSP00000386861:A2T	ENSP00000325377:A2T	A	-	1	0	0	WDR33	128245022	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_018383			34	33		181	178	1		1	1		0	0	36	0		1	9.999987e-01	0	22	0	94	0	34	181
AMMECR1L	83607	broad.mit.edu	37	2	128622692	128622692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532																																						ENST00000272647.5	1.000000	0.780000	1	9.100000e-01	0.990000	0.968780	0.990000	1.000000																										0				9						c.(907-909)ccG>ccA		AMMECR1-like							161.0	148.0	152.0					2																	128622692		2203	4300	6503	SO:0001819	synonymous_variant	83607	1	121412	37				g.chr2:128622692C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.909G>A	chr2.hg19:g.128622692C>T		1					AMMECR1L_ENST00000393001.1_Silent_p.P303P	p.P303P	NM_001199140.1	NP_001186069.1	1	3	4	2.202051	Q6DCA0	AMERL_HUMAN		8	1169	-	Colorectal(110;0.1)		B4E276	Silent	SNP	ENST00000272647.5	1	1	hg19	c.909G>A	CCDS2152.1	1																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	0	0	0		2	2	2	0		0	0	156		156	147	1	2.060000	-11.687270	1	0.170000	NM_031445			51	48		604	563	1		1	1		0	0	156	0		1	9.464073e-01	0	9	0	50	0	51	604
AMMECR1L	83607	broad.mit.edu	37	2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	239	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408																																						ENST00000272647.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(715-717)aaG>aaT		AMMECR1-like							135.0	120.0	125.0					2																	128627035		2203	4300	6503	SO:0001583	missense	83607	0	0					g.chr2:128627035C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.717G>T	chr2.hg19:g.128627035C>A	ENSP00000272647:p.Lys239Asn	1					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	p.K239N	NM_001199140.1	NP_001186069.1	1	3	4	2.202051	Q6DCA0	AMERL_HUMAN		6	977	-	Colorectal(110;0.1)		B4E276	Missense_Mutation	SNP	ENST00000272647.5	1	1	hg19	c.717G>T	CCDS2152.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693364	0.48202	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.52	0.55395	5.39	4.52	0.55395	AMMECR1 domain (2);	0.063723	0.64402	D	0.000005	T	0.58018	0.2093	M	0.63843	1.955	0.51233	D	0.999914	B	0.23540	0.087	B	0.28784	0.094	T	0.53486	-0.8432	9	0.22109	T	0.4	-4.9988	11.3608	0.49642	0.0:0.8541:0.0:0.1459	.	239	Q6DCA0	AMERL_HUMAN	N	239	.	ENSP00000272647:K239N	K	-	3	2	2	AMMECR1L	128343505	128343505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	1.422000	0.47177	0.650000	0.86243	AAG	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-5.155553	1	0.170000	NM_031445			112	110		335	329	1		1	1		0	0	85	0		1	9.997355e-01	0	13	0	26	0	112	335
AMMECR1L	83607	broad.mit.edu	37	2	128628468	128628468	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128628468G>T	ENST00000272647.5	-	5	813	c.553C>A	c.(553-555)Cga>Aga	p.R185R	AMMECR1L_ENST00000393001.1_Silent_p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	185	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.R185*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGCTCCTCTCGGGTCAGGGGG	0.532																																						ENST00000272647.5	1.000000	0.250000	1	3.900000e-01	0.600000	0.656843	0.600000	1.000000																										1	Substitution - Nonsense(1)	p.R185*(1)	large_intestine(1)	9						c.(553-555)Cga>Aga		AMMECR1-like							46.0	44.0	45.0					2																	128628468		2203	4300	6503	SO:0001819	synonymous_variant	83607	0	0					g.chr2:128628468G>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.553C>A	chr2.hg19:g.128628468G>T		1					AMMECR1L_ENST00000393001.1_Silent_p.R185R	p.R185R	NM_001199140.1	NP_001186069.1	1	3	4	2.202051	Q6DCA0	AMERL_HUMAN		5	813	-	Colorectal(110;0.1)		B4E276	Silent	SNP	ENST00000272647.5	0	1	hg19	c.553C>A	CCDS2152.1	0																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-2.892586	1	0.170000	NM_031445			7	7		173	167	0		1	1		0	0	23	0		9.788194e-01	6.164645e-01	0	2	0	48	0	7	173
SAP130	79595	broad.mit.edu	37	2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000259235.3	-	20	3259	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1044	Interactions with SIN3A and HDAC1.				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)			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)		TTTTCCTTTCGCTTCAATTTG	0.428																																						ENST00000259235.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3130-3132)Cga>Tga		Sin3A-associated protein, 130kDa							165.0	153.0	157.0					2																	128699597		2203	4300	6503	SO:0001587	stop_gained	79595	1	121410	29				g.chr2:128699597G>A	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.3130C>T	chr2.hg19:g.128699597G>A	ENSP00000259235:p.Arg1044*	1					SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	p.R1044*	NM_024545.3	NP_078821.2	1	3	4	2.202051	Q9H0E3	SP130_HUMAN		20	3259	-	Colorectal(110;0.1)		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	0	1	hg19	c.3130C>T	CCDS2153.1	1	.	.	.	.	.	.	.	.	.	.	.	35	5.482949	0.96307	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	4.22	0.49857	6.17	4.22	0.49857	.	0.175533	0.51477	D	0.000088	.	.	.	.	.	.	0.38751	D	0.954104	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4403	12.2802	0.54759	0.0657:0.0:0.7579:0.1764	.	.	.	.	X	1079;1044;1052	.	ENSP00000259234:R1052X	R	-	1	2	2	SAP130	128416067	128416067	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	5.117000	0.64667	1.632000	0.50472	-0.140000	0.14226	CGA	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_024545			112	111		589	573	1		1	1		0	0	91	0		1	9.999999e-01	0	25	0	96	0	112	589
SAP130	79595	broad.mit.edu	37	2	128747250	128747250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000259235.3	-	13	1875	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	582					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)			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)		GTGGTGCAGGCTGTATCCCTG	0.577																																						ENST00000259235.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1744-1746)caG>caA		Sin3A-associated protein, 130kDa							125.0	119.0	121.0					2																	128747250		2203	4300	6503	SO:0001819	synonymous_variant	79595	0	0					g.chr2:128747250C>T	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.1746G>A	chr2.hg19:g.128747250C>T		1					SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	p.Q582Q	NM_024545.3	NP_078821.2	1	3	4	2.202051	Q9H0E3	SP130_HUMAN		13	1875	-	Colorectal(110;0.1)		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	1	1	hg19	c.1746G>A	CCDS2153.1	1																																																																																								2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_024545			66	65		407	397	1		1	1		0	0	56	0		1	9.997622e-01	0	16	0	61	0	66	407
TRIB2	28951	broad.mit.edu	37	2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527																																						ENST00000155926.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(931-933)Gat>Aat		tribbles pseudokinase 2							68.0	67.0	67.0					2																	12880819		2203	4300	6503	SO:0001583	missense	28951	0	0					g.chr2:12880819G>A	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.931G>A	chr2.hg19:g.12880819G>A	ENSP00000155926:p.Asp311Asn	1					TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	p.D311N	NM_021643.3	NP_067675.1	1	2	3	2.183349				3	2350	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Missense_Mutation	SNP	ENST00000155926.4	1	1	hg19	c.931G>A	CCDS1683.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312466	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48836	0.82;0.8	5.94	5.94	0.96194	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.212067	0.49916	D	0.000128	T	0.33847	0.0877	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07290	-1.0780	10	0.27785	T	0.31	-21.7034	19.354	0.94404	0.0:0.0:1.0:0.0	.	311	Q92519	TRIB2_HUMAN	N	311;175	ENSP00000155926:D311N;ENSP00000370874:D175N	ENSP00000155926:D311N	D	+	1	0	0	TRIB2	12798270	12798270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.820000	0.97059	0.650000	0.86243	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_021643			87	86		219	216	1		1	1		0	0	65	0		1	1	0	28	0	97	0	87	219
SAP130	79595	broad.mit.edu	37	2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000259235.3	-	13	1864	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_ENST00000357702.5_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	579					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)			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)		TGTATCCCTGGGGTCCCAATG	0.572																																						ENST00000259235.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1735-1737)Cca>Tca		Sin3A-associated protein, 130kDa							112.0	108.0	110.0					2																	128747261		2203	4300	6503	SO:0001583	missense	79595	0	0					g.chr2:128747261G>A	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.1735C>T	chr2.hg19:g.128747261G>A	ENSP00000259235:p.Pro579Ser	1					SAP130_ENST00000357702.5_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	p.P579S	NM_024545.3	NP_078821.2	1	3	4	2.202051	Q9H0E3	SP130_HUMAN		13	1864	-	Colorectal(110;0.1)		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	1	1	hg19	c.1735C>T	CCDS2153.1	1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526128	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.67	0.58626	5.56	4.67	0.58626	.	0.188036	0.52532	N	0.000062	T	0.30070	0.0753	N	0.08118	0	0.35563	D	0.804872	B;B;B;B;B	0.21309	0.023;0.0;0.001;0.054;0.004	B;B;B;B;B	0.20577	0.01;0.0;0.002;0.03;0.022	T	0.27020	-1.0086	9	0.08599	T	0.76	-3.5579	13.5288	0.61611	0.0762:0.0:0.9238:0.0	.	579;552;579;109;217	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	S	579;579;553	.	ENSP00000259234:P553S	P	-	1	0	0	SAP130	128463731	128463731	1.000000	0.71417	0.311000	0.25182	0.867000	0.49689	7.421000	0.80204	1.306000	0.44926	0.655000	0.94253	CCA	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	0		2	2	2	0		0	0	72		72	70	1	2.060000	-2.744786	1	0.170000	NM_024545			62	62		410	397	1		1	1		0	0	72	0		1	9.992373e-01	0	12	0	60	0	62	410
UGGT1	56886	broad.mit.edu	37	2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000259253.6	+	27	2994	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'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)			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						GCCGAAGGAAGGGGAGACATA	0.443																																						ENST00000259253.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				63						c.(2947-2949)Ggg>Tgg		UDP-glucose glycoprotein glucosyltransferase 1							151.0	120.0	131.0					2																	128927887		2203	4300	6503	SO:0001583	missense	56886	1	121412	29				g.chr2:128927887G>T	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.2947G>T	chr2.hg19:g.128927887G>T	ENSP00000259253:p.Gly983Trp	1					UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	p.G983W	NM_020120.3	NP_064505.1	1	3	4	2.202051	Q9NYU2	UGGG1_HUMAN		27	2994	+			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	1	1	hg19	c.2947G>T	CCDS2154.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	6.17	4.04	0.47022	6.17	4.04	0.47022	.	0.204121	0.52532	N	0.000075	T	0.45975	0.1369	L	0.55481	1.735	0.50467	D	0.999876	D;D	0.56035	0.971;0.974	P;D	0.63877	0.649;0.919	T	0.34925	-0.9809	9	.	.	.	.	12.3439	0.55109	0.0698:0.0:0.8083:0.122	.	959;983	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	959;983	ENSP00000365158:G959W;ENSP00000259253:G983W	.	G	+	1	0	0	UGGT1	128644357	128644357	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.106000	0.64597	1.584000	0.49913	0.655000	0.94253	GGG	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.622396	1	0.170000	NM_020120			35	35		219	216	1		1	1		0	0	47	0		1	9.999972e-01	0	19	0	108	0	35	219
HS6ST1	9394	broad.mit.edu	37	2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A	rs374196972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	322					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602																																						ENST00000259241.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(964-966)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	0,4276		0,0,2138	41.0	45.0	43.0		965	4.8	0.9	2		43	1,8481		0,1,4240	no	missense	HS6ST1	NM_004807.2	81	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	322/412	129026007	1,12757	2138	4241	6379	SO:0001583	missense	9394	2	121160	35				g.chr2:129026007G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.965C>T	chr2.hg19:g.129026007G>A	ENSP00000259241:p.Thr322Met	1						p.T322M	NM_004807.2	NP_004798.3	1	3	4	2.202051	O60243	H6ST1_HUMAN		2	978	-	Colorectal(110;0.1)		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	1	1	hg19	c.965C>T	CCDS42748.1	1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874780	0.72180	0.0	1.18E-4	ENSG00000136720	ENST00000259241	T	0.76060	-0.99	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90425	0.4420	9	.	.	.	-1.3832	17.8351	0.88693	0.0:0.0:1.0:0.0	.	322	O60243	H6ST1_HUMAN	M	322	ENSP00000259241:T322M	.	T	-	2	0	0	HS6ST1	128742477	128742477	1.000000	0.71417	0.934000	0.37439	0.537000	0.34900	7.570000	0.82390	2.203000	0.70933	0.462000	0.41574	ACG	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_004807			66	64		206	203	0		1	1		0	0	39	0		1	1	0	32	0	182	0	66	206
HS6ST1	9394	broad.mit.edu	37	2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A	rs372108639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	307					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627																																						ENST00000259241.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(919-921)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	1,4175		0,1,2087	32.0	33.0	33.0		920	4.8	1.0	2		33	0,8424		0,0,4212	no	missense	HS6ST1	NM_004807.2	81	0,1,6299	AA,AG,GG		0.0,0.0239,0.0079	probably-damaging	307/412	129026052	1,12599	2088	4212	6300	SO:0001583	missense	9394	3	120978	27				g.chr2:129026052G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.920C>T	chr2.hg19:g.129026052G>A	ENSP00000259241:p.Thr307Met	1						p.T307M	NM_004807.2	NP_004798.3	1	3	4	2.202051	O60243	H6ST1_HUMAN		2	933	-	Colorectal(110;0.1)		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	1	1	hg19	c.920C>T	CCDS42748.1	1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874990	0.72180	2.39E-4	0.0	ENSG00000136720	ENST00000259241	D	0.84589	-1.87	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.047862	0.85682	N	0.000000	D	0.91085	0.7194	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90815	0.4704	9	.	.	.	0.0782	17.8351	0.88693	0.0:0.0:1.0:0.0	.	307	O60243	H6ST1_HUMAN	M	307	ENSP00000259241:T307M	.	T	-	2	0	0	HS6ST1	128742522	128742522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.203000	0.70933	0.462000	0.41574	ACG	2.548703e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	1	0	0		2	2	2	0		0	0	23		23	30	1	2.060000	-20.000000	1	0.170000	NM_004807			34	32		141	122	0		1	1		0	0	23	0		1	9.999999e-01	0	26	0	85	0	34	141
RAB6C	84084	broad.mit.edu	37	2	130738170	130738170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	ENST00000410061.2	+	1	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	161	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAAGCTGGATACAATGTAAAG	0.468																																						ENST00000410061.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.997373	0.990000	1.000000																										0				5						c.(481-483)tAc>tGc		RAB6C, member RAS oncogene family							97.0	83.0	88.0					2																	130738170		2203	4297	6500	SO:0001583	missense	84084	0	0					g.chr2:130738170A>G	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.482A>G	chr2.hg19:g.130738170A>G	ENSP00000387307:p.Tyr161Cys	1					AC079776.7_ENST00000412425.1_RNA	p.Y161C	NM_032144.2	NP_115520.2	1	3	4	2.004602	Q9H0N0	RAB6C_HUMAN		1	936	+	Colorectal(110;0.1)		Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	ENST00000410061.2	0	1	hg19	c.482A>G	CCDS46408.1	1	.	.	.	.	.	.	.	.	.	.	.	9.317	1.057016	0.19907	.	.	ENSG00000222014	ENST00000410061	T	0.80123	-1.34	0.652	0.652	0.17823	0.652	0.652	0.17823	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70159	0.3192	L	0.44542	1.39	0.44508	D	0.997451	B	0.26081	0.141	B	0.27796	0.083	T	0.65792	-0.6082	9	0.72032	D	0.01	-2.6348	5.6347	0.17530	0.9999:0.0:1.0E-4:0.0	.	161	Q9H0N0	RAB6C_HUMAN	C	161	ENSP00000387307:Y161C	ENSP00000387307:Y161C	Y	+	2	0	0	RAB6C	130454640	130454640	1.000000	0.71417	0.011000	0.14972	0.338000	0.28826	3.269000	0.51592	0.537000	0.28751	0.102000	0.15555	TAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	1	0	1		2	2	2	0		0	0	112		112	183	1	2.060000	-20.000000	1	0.170000	NM_032144			41	37		377	325	0		1			0	0	112	0		1	0	0	0	0	0	0	41	377
POTEF	728378	broad.mit.edu	37	2	130877873	130877873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000409914.2	-	3	615	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000360967.5_Silent_p.C72C|POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000361163.4_Silent_p.C72C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	72					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTCCCCCTGCAGCAGGGGA	0.587																																						ENST00000409914.2	1.000000	0.400000	1	4.600000e-01	0.540000	0.635668	0.540000	0.520000																										0				53						c.(214-216)tgC>tgT		POTE ankyrin domain family, member F							80.0	112.0	101.0					2																	130877873		2190	4295	6485	SO:0001819	synonymous_variant	728378	0	0					g.chr2:130877873G>A	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.216C>T	chr2.hg19:g.130877873G>A		1					POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	p.C72C	NM_001099771.2	NP_001093241.1	1	3	4	2.004602	A5A3E0	POTEF_HUMAN		3	615	-			A6NC34	Silent	SNP	ENST00000409914.2	1	1	hg19	c.216C>T	CCDS46409.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	0	0	1		2	2	2	0		0	0	303		303	341	1	2.060000	-4.461250	1	0.170000	NM_001099771			55	45		1315	1066	0		1			0	0	303	0		1	0	0	0	0	0	0	55	1315
SMPD4	55627	broad.mit.edu	37	2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	238					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557																																						ENST00000409031.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998452	0.990000	1.000000																										0				29						c.(829-831)Aag>Cag		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						94.0	82.0	86.0					2																	130925111		2203	4300	6503	SO:0001583	missense	55627	0	0					g.chr2:130925111T>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.829A>C	chr2.hg19:g.130925111T>G	ENSP00000386531:p.Lys277Gln	1					SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000473720.1_5'UTR	p.K277Q	NM_017951.4	NP_060421.2	1	3	4	2.004602	Q9NXE4	NSMA3_HUMAN		9	1977	-	Colorectal(110;0.1)		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	1	1	hg19	c.829A>C	CCDS42751.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	21.6|21.6|21.6	4.170904|4.170904|4.170904	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000136699|ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682|ENST00000439886	.|.|.	.|.|.	.|.|.	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|.	0.70859|0.70859|.	0.3272|0.3272|.	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.63046|.|.	0.066;0.138;0.026;0.492;0.992|.|.	B;B;B;B;P|.|.	0.59171|.|.	0.044;0.073;0.038;0.245;0.853|.|.	T|T|.	0.71076|0.71076|.	-0.4697|-0.4697|.	9|6|.	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	10.6337|10.6337|10.6337	0.45551|0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	204;164;238;238;277|.|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.|.	.;.;.;NSMA3_HUMAN;.|.|.	Q|T|Y	277;277;204;164;54|66|105	.|.|.	ENSP00000339721:K164Q|.|.	K|K|X	-|-|-	1|2|3	0|0|2	0|0|2	SMPD4|SMPD4|SMPD4	130641581|130641581|130641581	130641581|130641581|130641581	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.375000|7.375000|7.375000	0.79646|0.79646|0.79646	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	AAG|AAA|TAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_017751			34	34		289	281	1		1	1		0	0	52	0		1	9.999626e-01	0	23	0	111	0	34	289
TUBA3E	112714	broad.mit.edu	37	2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T	rs537573234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	373					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)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17072	0.0		0.0	False		,,,				2504	0.0					ENST00000312988.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1117-1119)cGg>cAg		tubulin, alpha 3e							39.0	40.0	39.0					2																	130949639		2202	4290	6492	SO:0001583	missense	112714	14	121382	42				g.chr2:130949639C>T	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.1118G>A	chr2.hg19:g.130949639C>T	ENSP00000318197:p.Arg373Gln	1						p.R373Q	NM_207312.2	NP_997195	1	3	4	2.004602	Q6PEY2	TBA3E_HUMAN		5	1218	-	Colorectal(110;0.1)			Missense_Mutation	SNP	ENST00000312988.7	1	1	hg19	c.1118G>A	CCDS2158.1	1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.562135	0.45590	.	.	ENSG00000152086	ENST00000312988	D	0.84660	-1.88	2.96	2.96	0.34315	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.118605	0.29838	U	0.011066	D	0.86012	0.5831	M	0.85299	2.745	0.45015	D	0.998032	B	0.20550	0.046	B	0.26310	0.068	D	0.86632	0.1886	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	373	Q6PEY2	TBA3E_HUMAN	Q	373	ENSP00000318197:R373Q	ENSP00000318197:R373Q	R	-	2	0	0	TUBA3E	130666109	130666109	0.956000	0.32656	1.000000	0.80357	0.910000	0.53928	2.209000	0.42806	1.668000	0.50843	0.455000	0.32223	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	1	0	1		2	2	2	0		0	0	92		92	110	1	2.060000	-2.690428	1	0.170000	NM_207312			71	54		456	354	0		1			0	0	92	0		1	0	0	0	0	0	0	71	456
TUBA3E	112714	broad.mit.edu	37	2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					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)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCAATCAGGCGATTGAGGTT	0.537																																						ENST00000312988.7	1.000000	0.310000	1	3.900000e-01	0.490000	0.588099	0.490000	0.460000																										0				28						c.(685-687)cGc>cAc		tubulin, alpha 3e							163.0	116.0	132.0					2																	130951729		2203	4298	6501	SO:0001583	missense	112714	2	121408	33				g.chr2:130951729C>T	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.686G>A	chr2.hg19:g.130951729C>T	ENSP00000318197:p.Arg229His	1						p.R229H	NM_207312.2	NP_997195	1	3	4	2.004602	Q6PEY2	TBA3E_HUMAN		4	786	-	Colorectal(110;0.1)			Missense_Mutation	SNP	ENST00000312988.7	1	1	hg19	c.686G>A	CCDS2158.1	0	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852325	0.32699	.	.	ENSG00000152086	ENST00000312988	T	0.68331	-0.32	2.92	2.92	0.33932	2.92	2.92	0.33932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.48286	U	0.000197	T	0.66684	0.2814	L	0.31664	0.95	0.44668	D	0.997653	D	0.69078	0.997	P	0.59056	0.851	T	0.70846	-0.4761	10	0.87932	D	0	.	11.6717	0.51406	0.0:1.0:0.0:0.0	.	229	Q6PEY2	TBA3E_HUMAN	H	229	ENSP00000318197:R229H	ENSP00000318197:R229H	R	-	2	0	0	TUBA3E	130668199	130668199	0.884000	0.30299	0.597000	0.28824	0.135000	0.20990	3.087000	0.50167	1.664000	0.50801	0.449000	0.29647	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	0	0	1		2	2	2	0		0	0	163		163	178	1	2.060000	-3.586521	1	0.170000	NM_207312			27	26		745	657	0		1			0	0	163	0		9.999998e-01	0	0	0	0	0	0	27	745
CCDC115	84317	broad.mit.edu	37	2	131096740	131096740	+	Missense_Mutation	SNP	G	G	A	rs368677023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131096740G>A	ENST00000259229.2	-	5	719	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	166						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TGGAGTCCCCGGAGCTGGCTT	0.612																																						ENST00000259229.2	1.000000	0.180000	1	2.800000e-01	0.440000	0.544513	0.440000	0.360000																										0				7						c.(496-498)Cgg>Tgg		coiled-coil domain containing 115		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		496	2.2	0.7	2		61	0,8600		0,0,4300	no	missense	CCDC115	NM_032357.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	166/181	131096740	1,13005	2203	4300	6503	SO:0001583	missense	84317	3	121412	35				g.chr2:131096740G>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.496C>T	chr2.hg19:g.131096740G>A	ENSP00000259229:p.Arg166Trp	1					CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	p.R166W	NM_032357.2	NP_115733.2	1	3	4	2.004602	Q96NT0	CC115_HUMAN		5	719	-	Colorectal(110;0.1)		B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	0	1	hg19	c.496C>T	CCDS2159.1	0	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317111	0.60524	2.27E-4	0.0	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.94758	-3.51;-3.51	4.0	2.15	0.27550	4.0	2.15	0.27550	.	0.433514	0.22936	N	0.053855	D	0.94315	0.8173	L	0.54323	1.7	0.45415	D	0.998395	D;D	0.71674	0.998;0.998	P;P	0.62491	0.742;0.903	D	0.92059	0.5655	10	0.72032	D	0.01	.	4.775	0.13175	0.1113:0.0:0.6762:0.2125	.	166;161	Q96NT0;B8ZZ99	CC115_HUMAN;.	W	166;161	ENSP00000259229:R166W;ENSP00000387301:R161W	ENSP00000259229:R166W	R	-	1	2	2	CCDC115	130813210	130813210	0.017000	0.18338	0.679000	0.29978	0.920000	0.55202	1.376000	0.34306	0.620000	0.30215	0.591000	0.81541	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.115378	1	0.170000	NM_032357			7	6		240	238	0		1	1		0	0	59	0		9.801833e-01	9.937825e-01	0	12	0	315	0	7	240
GPR148	344561	broad.mit.edu	37	2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637																																						ENST00000309926.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(145-147)Ctg>Atg		G protein-coupled receptor 148							76.0	68.0	71.0					2																	131486869		2203	4300	6503	SO:0001583	missense	344561	0	0					g.chr2:131486869C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.145C>A	chr2.hg19:g.131486869C>A	ENSP00000308908:p.Leu49Met	1						p.L49M	NM_207364.2	NP_997247.2	1	3	4	2.004602	Q8TDV2	GP148_HUMAN		1	227	+	Colorectal(110;0.1)		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	1	1	hg19	c.145C>A	CCDS2163.1	1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.247744	0.59103	.	.	ENSG00000173302	ENST00000309926	T	0.38401	1.14	2.77	2.77	0.32553	2.77	2.77	0.32553	.	0.000000	0.38381	U	0.001712	T	0.35307	0.0927	N	0.08118	0	0.27795	N	0.942698	D	0.89917	1.0	D	0.83275	0.996	T	0.18618	-1.0331	10	0.32370	T	0.25	-4.6591	11.7043	0.51590	0.0:1.0:0.0:0.0	.	49	Q8TDV2	GP148_HUMAN	M	49	ENSP00000308908:L49M	ENSP00000308908:L49M	L	+	1	2	2	GPR148	131203339	131203339	0.990000	0.36364	0.149000	0.22428	0.139000	0.21198	2.612000	0.46343	1.496000	0.48567	0.462000	0.41574	CTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	0	0	0		20	2	2	1		1	1	53		53	53	1	2.060000	-20.000000	1	0.170000	XM_293092			94	92		246	242	1		1	0		1	0	53	0		1	0	0	0	0	1	0	94	246
GPR148	344561	broad.mit.edu	37	2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572																																						ENST00000309926.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.994225	0.990000	1.000000																										0				27						c.(895-897)tgG>tgA		G protein-coupled receptor 148							153.0	117.0	129.0					2																	131487621		2203	4300	6503	SO:0001587	stop_gained	344561	0	0					g.chr2:131487621G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.897G>A	chr2.hg19:g.131487621G>A	ENSP00000308908:p.Trp299*	1						p.W299*	NM_207364.2	NP_997247.2	1	3	4	2.004602	Q8TDV2	GP148_HUMAN		1	979	+	Colorectal(110;0.1)		Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	0	1	hg19	c.897G>A	CCDS2163.1	1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082396	0.76528	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.17	3.17	0.36434	3.17	3.17	0.36434	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9475	12.1529	0.54059	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000308908:W299X	W	+	3	0	0	GPR148	131204091	131204091	1.000000	0.71417	0.890000	0.34922	0.526000	0.34562	4.537000	0.60643	1.506000	0.48736	0.462000	0.41574	TGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-12.977260	1	0.170000	XM_293092			41	40		402	392	0		1	0		0	0	97	0		1	0	0	0	0	1	0	41	402
ARHGEF4	50649	broad.mit.edu	37	2	131797660	131797660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000326016.5	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000392953.3_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.G202G	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	273					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)			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)		CGGAGGACGGCGGGGCGGAGG	0.662																																						ENST00000326016.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(817-819)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 4							48.0	48.0	48.0					2																	131797660		2201	4299	6500	SO:0001819	synonymous_variant	50649	0	0					g.chr2:131797660C>T	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.819C>T	chr2.hg19:g.131797660C>T		1					ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000392953.3_Silent_p.G273G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR	p.G273G	NM_015320.2	NP_056135.2	1	3	4	2.004602	Q9NR80	ARHG4_HUMAN		7	1338	+		Prostate(154;0.055)	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	1	1	hg19	c.819C>T	CCDS2165.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				37	37		74	71	1		1	1		0	0	15	0		1	9.903160e-01	0	10	0	8	0	37	74
FAM168B	130074	broad.mit.edu	37	2	131813237	131813237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	62						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622																																						ENST00000409185.1	1.000000	0.690000	1	8.900000e-01	0.990000	0.961311	0.990000	1.000000																										0				5						c.(184-186)tcC>tcT		family with sequence similarity 168, member B							43.0	48.0	46.0					2																	131813237		2033	4189	6222	SO:0001819	synonymous_variant	130074	0	0					g.chr2:131813237G>A		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.186C>T	chr2.hg19:g.131813237G>A		1					FAM168B_ENST00000389915.3_Silent_p.S62S	p.S62S	NM_001009993.2	NP_001009993.2	1	3	4	2.004602	A1KXE4	F168B_HUMAN		4	293	-			Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	1	1	hg19	c.186C>T	CCDS42755.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-19.999880	1	0.170000	NM_001009993			18	19		201	199	1		1	1		0	0	40	0		9.999849e-01	9.992097e-01	0	18	0	115	0	18	201
POTEE	445582	broad.mit.edu	37	2	131984434	131984434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	ENST00000356920.5	+	4	943	c.849A>C	c.(847-849)caA>caC	p.Q283H	RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	283					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACATGAGCAAAAACAGCAAG	0.323																																						ENST00000356920.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(847-849)caA>caC		POTE ankyrin domain family, member E							93.0	109.0	103.0					2																	131984434		1499	2703	4202	SO:0001583	missense	445582	0	0					g.chr2:131984434A>C	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.849A>C	chr2.hg19:g.131984434A>C	ENSP00000439189:p.Gln283His	1					POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.Q283H	NM_001083538.1	NP_001077007.1	1	3	4	2.004602	Q6S8J3	POTEE_HUMAN		4	943	+			Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	0	1	hg19	c.849A>C	CCDS46414.1	1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249627	0.22880	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.16	-1.78	0.07957	1.16	-1.78	0.07957	Ankyrin repeat-containing domain (4);	1.304430	0.06078	U	0.661422	T	0.24736	0.0600	N	0.17082	0.46	0.09310	N	1	P	0.44309	0.832	B	0.34824	0.19	T	0.17018	-1.0383	10	0.87932	D	0	.	3.0083	0.06035	0.3104:0.3972:0.2924:0.0	.	283	Q6S8J3	POTEE_HUMAN	H	283;293	ENSP00000439189:Q283H;ENSP00000443049:Q293H	ENSP00000439189:Q283H	Q	+	3	2	2	AC131180.1	131700904	131700904	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-1.876000	0.01633	-0.490000	0.06707	0.136000	0.15936	CAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	178		178	198	1	2.060000	-20.000000	1	0.170000	NM_001083538			115	92		594	414	0		1			0	0	178	0		1	0	0	0	0	0	0	115	594
TUBA3D	113457	broad.mit.edu	37	2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	156					'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)			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)		CTCATGGAGCGGCTCTCAGTG	0.587																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(466-468)cGg>cAg		tubulin, alpha 3d							75.0	84.0	80.0					2																	132237733		2203	4300	6503	SO:0001583	missense	113457	1	121412	36				g.chr2:132237733G>A	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.467G>A	chr2.hg19:g.132237733G>A	ENSP00000326042:p.Arg156Gln	1					TUBA3D_ENST00000409047.2_3'UTR	p.R156Q	NM_080386.3	NP_525125.2	1	3	4	2.004602	Q13748	TBA3C_HUMAN		4	574	+			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	1	1	hg19	c.467G>A	CCDS33290.1	1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604006	0.28534	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71341	-0.56	2.24	2.24	0.28232	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000277	T	0.64670	0.2619	M	0.78801	2.425	0.43740	D	0.996237	P	0.40332	0.713	B	0.31495	0.131	T	0.70949	-0.4733	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	156	Q13748	TBA3C_HUMAN	Q	156	ENSP00000326042:R156Q	ENSP00000326042:R156Q	R	+	2	0	0	TUBA3D	131954203	131954203	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.151000	0.89636	1.243000	0.43853	0.194000	0.17425	CGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	1	0	0		2	2	2	0		0	0	145		145	167	1	2.060000	-6.881325	1	0.170000	NM_080386			191	172		556	508	0		1			0	0	145	0		1	0	0	0	0	0	0	191	556
TUBA3D	113457	broad.mit.edu	37	2	132237952	132237952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	ENST00000321253.6	+	4	793	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'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)			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)		AACCTCAATCGCCTGATTGGG	0.527																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6	1.000000	0.390000	1	4.800000e-01	0.610000	0.675078	0.610000	0.560000																										0				32						c.(685-687)cGc>cAc		tubulin, alpha 3d							71.0	98.0	89.0					2																	132237952		2200	4299	6499	SO:0001583	missense	113457	0	0					g.chr2:132237952G>A	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.686G>A	chr2.hg19:g.132237952G>A	ENSP00000326042:p.Arg229His	1						p.R229H	NM_080386.3	NP_525125.2	1	3	4	2.004602	Q13748	TBA3C_HUMAN		4	793	+			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	0	1	hg19	c.686G>A	CCDS33290.1	0	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502690	0.12822	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68331	-0.32	2.24	2.24	0.28232	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.43416	U	0.000563	T	0.50956	0.1646	L	0.31664	0.95	0.43622	D	0.996002	P	0.35656	0.514	B	0.34093	0.175	T	0.57329	-0.7830	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	229	Q13748	TBA3C_HUMAN	H	229	ENSP00000326042:R229H	ENSP00000326042:R229H	R	+	2	0	0	TUBA3D	131954422	131954422	1.000000	0.71417	0.641000	0.29422	0.156000	0.22039	5.292000	0.65673	1.243000	0.43853	0.194000	0.17425	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	0	0	1		13	2	2	1		1	1	110		110	159	1	2.060000	-4.566481	1	0.170000	NM_080386			28	23		617	502	0		1	0		1	0	110	0		9.711862e-01	0	0	0	0	1	0	28	617
CCDC74A	90557	broad.mit.edu	37	2	132287250	132287250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	ENST00000295171.6	+	2	419	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	94										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAATCAGACATCACAGAAG	0.527																																						ENST00000295171.6	1.000000	0.810000	1	9.900000e-01	0.990000	0.984239	0.990000	1.000000																										0				19						c.(280-282)aCa>aTa		coiled-coil domain containing 74A							154.0	137.0	143.0					2																	132287250		2203	4300	6503	SO:0001583	missense	90557	0	0					g.chr2:132287250C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.281C>T	chr2.hg19:g.132287250C>T	ENSP00000295171:p.Thr94Ile	1					CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000467992.2_5'UTR	p.T94I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	1	3	4	2.004602	Q96AQ1	CC74A_HUMAN		2	419	+			Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	1	1	hg19	c.281C>T	CCDS2167.1	1	.	.	.	.	.	.	.	.	.	.	.	8.521	0.868682	0.17322	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.48836	0.89;0.89;0.8	2.88	1.67	0.24075	2.88	1.67	0.24075	.	0.352407	0.22562	U	0.058455	T	0.23532	0.0569	N	0.08118	0	0.80722	D	1	P;B;B	0.41910	0.764;0.131;0.277	B;B;B	0.38500	0.275;0.062;0.143	T	0.03840	-1.0999	10	0.56958	D	0.05	-9.7791	6.0112	0.19578	0.7222:0.2778:0.0:0.0	.	94;94;94	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	I	94;94;89	ENSP00000295171:T94I;ENSP00000387009:T94I;ENSP00000406839:T89I	ENSP00000295171:T94I	T	+	2	0	0	CCDC74A	132003720	132003720	0.973000	0.33851	0.267000	0.24556	0.598000	0.36846	1.220000	0.32491	0.152000	0.19188	0.194000	0.17425	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-10.332960	1	0.170000	NM_138770			30	30		312	303	0		1	0		0	0	74	1		1	9.750861e-01	0	0	0	64	0	30	312
CCDC74A	90557	broad.mit.edu	37	2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000295171.6	+	4	689	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577																																						ENST00000295171.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(550-552)gCc>gTc		coiled-coil domain containing 74A							12.0	25.0	21.0					2																	132289243		1601	3760	5361	SO:0001583	missense	90557	0	0					g.chr2:132289243C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.551C>T	chr2.hg19:g.132289243C>T	ENSP00000295171:p.Ala184Val	1					CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V|CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V	p.A184V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	1	3	4	2.004602	Q96AQ1	CC74A_HUMAN		4	689	+			Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	1	1	hg19	c.551C>T	CCDS2167.1	1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100255	0.37048	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.57752	1.7;1.66;0.48;0.38	2.13	1.21	0.21127	2.13	1.21	0.21127	.	0.703582	0.12409	N	0.471404	T	0.48205	0.1487	M	0.62723	1.935	0.09310	N	0.999999	P;P	0.46512	0.775;0.879	B;P	0.45167	0.436;0.472	T	0.41592	-0.9500	10	0.51188	T	0.08	-5.0991	4.0344	0.09724	0.0:0.7793:0.0:0.2207	.	118;184	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	184;118;113;286	ENSP00000295171:A184V;ENSP00000387009:A118V;ENSP00000406839:A113V;ENSP00000444610:A286V	ENSP00000295171:A184V	A	+	2	0	0	CCDC74A	132005713	132005713	0.099000	0.21834	0.997000	0.53966	0.743000	0.42351	-0.591000	0.05753	1.192000	0.43071	0.194000	0.17425	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	1		2	2	2	0		0	0	54		54	68	1	2.060000	-20.000000	1	0.170000	NM_138770			54	43		158	139	0		1	1		0	0	54	0		1	9.999980e-01	0	16	0	46	0	54	158
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617																																						ENST00000295171.6	1.000000	0.930000	1	9.900000e-01	0.990000	0.995994	0.990000	1.000000																										0				19						c.(781-783)atC>atA		coiled-coil domain containing 74A							91.0	94.0	93.0					2																	132290261		2203	4300	6503	SO:0001819	synonymous_variant	90557	0	0					g.chr2:132290261C>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.783C>A	chr2.hg19:g.132290261C>A		1					CCDC74A_ENST00000409856.3_Silent_p.I195I|CCDC74A_ENST00000467992.2_3'UTR	p.I261I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	1	3	4	2.004602	Q96AQ1	CC74A_HUMAN		5	921	+			Q6P4I5	Silent	SNP	ENST00000295171.6	1	1	hg19	c.783C>A	CCDS2167.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	0		2	2	2	0		0	0	128		128	144	1	2.060000	-18.640000	1	0.170000	NM_138770			72	70		738	682	0		1	1		0	0	128	0		1	9.530576e-01	0	5	0	48	0	72	738
GPR39	2863	broad.mit.edu	37	2	133402688	133402688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	ENST00000329321.3	+	2	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	291					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATTGTTGTGACATTGGCCGT	0.493																																						ENST00000329321.3	1.000000	0.240000	1	3.400000e-01	0.490000	0.583716	0.490000	0.430000																										0				22						c.(871-873)Aca>Gca		G protein-coupled receptor 39							80.0	71.0	74.0					2																	133402688		2203	4300	6503	SO:0001583	missense	2863	0	0					g.chr2:133402688A>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.871A>G	chr2.hg19:g.133402688A>G	ENSP00000327417:p.Thr291Ala	1					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T291A	NM_001508.2	NP_001499.1	1	3	4	2.004602	O43194	GPR39_HUMAN		2	1340	+			B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	1	1	hg19	c.871A>G	CCDS2170.1	0	.	.	.	.	.	.	.	.	.	.	A	4.756	0.140647	0.09083	.	.	ENSG00000183840	ENST00000329321	T	0.71103	-0.54	5.3	5.3	0.74995	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.247415	0.41396	D	0.000889	T	0.44993	0.1320	N	0.04245	-0.25	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55945	-0.8060	10	0.02654	T	1	.	15.4493	0.75259	1.0:0.0:0.0:0.0	.	291	O43194	GPR39_HUMAN	A	291	ENSP00000327417:T291A	ENSP00000327417:T291A	T	+	1	0	0	GPR39	133119158	133119158	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	5.705000	0.68355	2.237000	0.73441	0.529000	0.55759	ACA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.598175	1	0.170000				11	11		321	307	0		1	1		0	0	59	0		9.979727e-01	8.797459e-01	0	3	0	109	0	11	321
GPR39	2863	broad.mit.edu	37	2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	381					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622																																						ENST00000329321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1141-1143)aCc>aTc		G protein-coupled receptor 39							45.0	46.0	46.0					2																	133402959		2203	4299	6502	SO:0001583	missense	2863	0	0					g.chr2:133402959C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1142C>T	chr2.hg19:g.133402959C>T	ENSP00000327417:p.Thr381Ile	1					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T381I	NM_001508.2	NP_001499.1	1	3	4	2.004602	O43194	GPR39_HUMAN		2	1611	+			B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	1	1	hg19	c.1142C>T	CCDS2170.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566091	0.27915	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.94	2.04	0.26737	4.94	2.04	0.26737	.	3.978600	0.00610	N	0.000413	T	0.58250	0.2109	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.3971	0.21618	0.1186:0.3915:0.4169:0.073	.	381	O43194	GPR39_HUMAN	I	381	ENSP00000327417:T381I	ENSP00000327417:T381I	T	+	2	0	0	GPR39	133119429	133119429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	0.240000	0.21263	-0.219000	0.12488	ACC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	1	0	0		2	2	2	0		0	0	70		70	67	1	2.060000	-20.000000	1	0.170000				104	103		304	300	1		1	1		0	0	70	0		1	1	0	22	0	79	0	104	304
GPR39	2863	broad.mit.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	rs548819578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627																																						ENST00000329321.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998365	0.990000	1.000000																										0				22						c.(1168-1170)cGc>cAc		G protein-coupled receptor 39							41.0	43.0	43.0					2																	133402986		2203	4300	6503	SO:0001583	missense	2863	0	0					g.chr2:133402986G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	chr2.hg19:g.133402986G>A	ENSP00000327417:p.Arg390His	1					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R390H	NM_001508.2	NP_001499.1	1	3	4	2.004602	O43194	GPR39_HUMAN		2	1638	+			B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	1	1	hg19	c.1169G>A	CCDS2170.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	0	GPR39	133119456	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	1	0	0		21	2	2	0		0	1	67		67	65	1	2.060000	-3.318794	1	0.170000				43	42		385	383	1		1	1		0	0	67	0		9.985495e-01	9.970035e-01	0	4	0	77	0	43	385
LYPD1	116372	broad.mit.edu	37	2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	76	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552																																						ENST00000397463.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.986465	0.990000	1.000000																										0				2						c.(226-228)Gcc>Tcc		LY6/PLAUR domain containing 1							52.0	60.0	57.0					2																	133403818		2129	4237	6366	SO:0001583	missense	116372	0	0					g.chr2:133403818C>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.226G>T	chr2.hg19:g.133403818C>A	ENSP00000380605:p.Ala76Ser	1					GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S	p.A76S	NM_144586.5	NP_653187.3	1	3	4	2.004602	Q8N2G4	LYPD1_HUMAN		3	498	-			H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	1	1	hg19	c.226G>T	CCDS42759.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.372246	0.95923	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.86956	-2.19;-2.19	5.7	5.7	0.88788	5.7	5.7	0.88788	Ly-6 antigen / uPA receptor -like (1);	0.128766	0.52532	D	0.000077	D	0.89588	0.6758	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91025	0.4860	10	0.87932	D	0	-8.1411	19.8936	0.96942	0.0:1.0:0.0:0.0	.	76;92	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	99;76;24	ENSP00000380605:A76S;ENSP00000340563:A24S	ENSP00000340563:A24S	A	-	1	0	0	LYPD1	133120288	133120288	1.000000	0.71417	0.964000	0.40570	0.874000	0.50279	7.601000	0.82783	2.716000	0.92895	0.650000	0.86243	GCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_144586			20	19		192	189	0		1	1		0	0	36	0		9.999956e-01	9.999184e-01	0	15	0	137	0	20	192
NCKAP5	344148	broad.mit.edu	37	2	133540013	133540013	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457										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						CATCAGTCGCGGTTGCAGAGG	0.507																																						ENST00000409261.1	1.000000	0.220000	1	3.400000e-01	0.510000	0.596437	0.510000	0.430000																										0				118						c.(4369-4371)acC>acT		NCK-associated protein 5							52.0	51.0	52.0					2																	133540013		1922	4127	6049	SO:0001819	synonymous_variant	344148	4	120838	36				g.chr2:133540013G>A	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.4371C>T	chr2.hg19:g.133540013G>A		1					NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	p.T1457T	NM_207363.2	NP_997246.2	1	3	4	2.004602	O14513	NCKP5_HUMAN		14	4744	-			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	1	1	hg19	c.4371C>T	CCDS46418.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.005669	1	0.170000	NM_207481			8	8		231	229	0		1			0	0	51	0		9.893542e-01	0	0	0	0	0	0	8	231
NCKAP5	344148	broad.mit.edu	37	2	133540637	133540637	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1249										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						TTCTCATGGATCTATTATCTA	0.517																																						ENST00000409261.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997868	0.990000	1.000000																										0				118						c.(3745-3747)agA>agG		NCK-associated protein 5							129.0	125.0	126.0					2																	133540637		1985	4166	6151	SO:0001819	synonymous_variant	344148	0	0					g.chr2:133540637T>C	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.3747A>G	chr2.hg19:g.133540637T>C		1					NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	p.R1249R	NM_207363.2	NP_997246.2	1	3	4	2.004602	O14513	NCKP5_HUMAN		14	4120	-			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	1	1	hg19	c.3747A>G	CCDS46418.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_207481			52	48		490	472	1		1			0	0	99	0		1	0	0	0	0	0	0	52	490
NCKAP5	344148	broad.mit.edu	37	2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	rs146403790	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	738										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						TTTCTCAGTGTCCTCTTCAGA	0.428																																						ENST00000409261.1	1.000000	0.400000	1	5.400000e-01	0.720000	0.749239	0.720000	1.000000																										0				118						c.(2212-2214)gAc>gGc		NCK-associated protein 5							68.0	64.0	65.0					2																	133542171		1848	4118	5966	SO:0001583	missense	344148	0	0					g.chr2:133542171T>C	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.2213A>G	chr2.hg19:g.133542171T>C	ENSP00000387128:p.Asp738Gly	1					NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	p.D738G	NM_207363.2	NP_997246.2	1	3	4	2.004602	O14513	NCKP5_HUMAN		14	2586	-			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	1	1	hg19	c.2213A>G	CCDS46418.1	0	.	.	.	.	.	.	.	.	.	.	t	10.92	1.488547	0.26686	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.41400	1.0;1.0	5.2	4.05	0.47172	5.2	4.05	0.47172	.	0.384947	0.18415	U	0.141921	T	0.21674	0.0522	N	0.08118	0	0.20074	N	0.999938	B	0.09022	0.002	B	0.06405	0.002	T	0.13176	-1.0519	10	0.38643	T	0.18	.	7.783	0.29077	0.0:0.1607:0.0:0.8393	.	738	O14513	NCKP5_HUMAN	G	738	ENSP00000387128:D738G;ENSP00000380603:D738G	ENSP00000380603:D738G	D	-	2	0	0	NCKAP5	133258641	133258641	0.966000	0.33281	0.285000	0.24819	0.962000	0.63368	1.727000	0.38095	1.017000	0.39495	0.529000	0.55759	GAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-17.222770	1	0.170000	NM_207481			16	15		305	298	0		1	0		0	0	59	0		9.999248e-01	0	0	0	0	1	0	16	305
NCKAP5	344148	broad.mit.edu	37	2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	459										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						CTTGCAGGGGCTCCCCAGGTC	0.468																																						ENST00000409261.1	1.000000	0.640000	1	8.200000e-01	0.990000	0.937637	0.990000	1.000000																										0				118						c.(1375-1377)aGc>aAc		NCK-associated protein 5							55.0	54.0	54.0					2																	133543008		1878	4102	5980	SO:0001583	missense	344148	1	120826	27				g.chr2:133543008C>T	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.1376G>A	chr2.hg19:g.133543008C>T	ENSP00000387128:p.Ser459Asn	1					NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	p.S459N	NM_207363.2	NP_997246.2	1	3	4	2.004602	O14513	NCKP5_HUMAN		14	1749	-			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	1	1	hg19	c.1376G>A	CCDS46418.1	1	.	.	.	.	.	.	.	.	.	.	c	9.912	1.209740	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10573	2.86;2.86	5.38	2.4	0.29515	5.38	2.4	0.29515	.	0.181563	0.24942	U	0.034373	T	0.12178	0.0296	L	0.27053	0.805	0.19775	N	0.999957	D	0.58620	0.983	P	0.51453	0.67	T	0.08006	-1.0743	10	0.59425	D	0.04	.	10.4977	0.44788	0.1449:0.4593:0.3958:0.0	.	459	O14513	NCKP5_HUMAN	N	459	ENSP00000387128:S459N;ENSP00000380603:S459N	ENSP00000380603:S459N	S	-	2	0	0	NCKAP5	133259478	133259478	0.002000	0.14202	0.482000	0.27366	0.139000	0.21198	0.826000	0.27407	0.305000	0.22832	0.645000	0.84053	AGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.999990	1	0.170000	NM_207481			20	20		247	241	0		1			0	0	60	0		9.999950e-01	0	0	0	0	0	0	20	247
MGAT5	4249	broad.mit.edu	37	2	135028024	135028024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413																																						ENST00000409645.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.995181	0.990000	1.000000																										0				36						c.(307-309)aaG>aaA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							130.0	117.0	121.0					2																	135028024		2203	4300	6503	SO:0001819	synonymous_variant	4249	0	0					g.chr2:135028024G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.309G>A	chr2.hg19:g.135028024G>A		1					MGAT5_ENST00000281923.2_Silent_p.K103K	p.K103K			1	3	4	2.004602	Q09328	MGT5A_HUMAN		3	561	+			D3DP70	Silent	SNP	ENST00000409645.1	1	1	hg19	c.309G>A	CCDS2171.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.017764	1	0.170000	NM_002410			29	29		264	262	1		1	1		0	0	71	0		1	9.879511e-01	0	12	0	54	0	29	264
MGAT5	4249	broad.mit.edu	37	2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	673					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587																																						ENST00000409645.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.991898	0.990000	1.000000																										0				36						c.(2017-2019)gAc>gGc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							67.0	69.0	69.0					2																	135199477		2203	4300	6503	SO:0001583	missense	4249	0	0					g.chr2:135199477A>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2018A>G	chr2.hg19:g.135199477A>G	ENSP00000386377:p.Asp673Gly	1					MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G	p.D673G			1	3	4	2.004602	Q09328	MGT5A_HUMAN		16	2270	+			D3DP70	Missense_Mutation	SNP	ENST00000409645.1	1	1	hg19	c.2018A>G	CCDS2171.1	1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858795	0.32884	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.130520	0.64402	D	0.000002	T	0.50137	0.1598	L	0.40543	1.245	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.44636	-0.9315	9	0.22109	T	0.4	-27.4264	12.0579	0.53546	0.8464:0.1536:0.0:0.0	.	673	Q09328	MGT5A_HUMAN	G	673	.	ENSP00000281923:D673G	D	+	2	0	0	MGAT5	134915947	134915947	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.997000	0.76270	2.179000	0.69175	0.459000	0.35465	GAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	1	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-20.000000	1	0.170000	NM_002410			49	49		506	498	0		1	1		0	0	126	0		1	9.853598e-01	0	4	0	66	0	49	506
RAB3GAP1	22930	broad.mit.edu	37	2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	807					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)			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)		GTTAAGAAGATCATAAAGCAG	0.323																																						ENST00000264158.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2419-2421)aTc>aCc		RAB3 GTPase activating protein subunit 1 (catalytic)							90.0	103.0	98.0					2																	135920351		2202	4300	6502	SO:0001583	missense	22930	0	0					g.chr2:135920351T>C	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.2420T>C	chr2.hg19:g.135920351T>C	ENSP00000264158:p.Ile807Thr	1					ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T	p.I807T	NM_012233.2	NP_036365.1	1	3	4	2.004602	Q15042	RB3GP_HUMAN		21	2463	+			A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	1	1	hg19	c.2420T>C	CCDS33294.1	1	.	.	.	.	.	.	.	.	.	.	T	8.614	0.889897	0.17540	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.199980	0.52532	D	0.000062	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.08055	0.003;0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-21.2019	10.8727	0.46894	0.0:0.0697:0.0:0.9303	.	807;807	C9J837;Q15042	.;RB3GP_HUMAN	T	807;763;807	ENSP00000264158:I807T;ENSP00000444306:I763T;ENSP00000411418:I807T	ENSP00000264158:I807T	I	+	2	0	0	RAB3GAP1	135636821	135636821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.324000	0.78689	0.533000	0.62120	ATC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_012233			124	122		304	301	1		1	1		0	0	108	0		1	1	0	79	0	112	0	124	304
ZRANB3	84083	broad.mit.edu	37	2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000264159.6	-	9	1196	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E360D	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	360	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATACCTTATTTTCGATGACTG	0.318																																						ENST00000264159.6	1.000000	0.740000	1	9.900000e-01	0.990000	0.981095	0.990000	1.000000																										0				20						c.(1078-1080)gaA>gaC		zinc finger, RAN-binding domain containing 3							55.0	51.0	52.0					2																	136033212		1835	4084	5919	SO:0001583	missense	84083	0	0					g.chr2:136033212T>G	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.1080A>C	chr2.hg19:g.136033212T>G	ENSP00000264159:p.Glu360Asp	1					ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E360D	p.E360D	NM_032143.2	NP_115519.2	1	3	4	2.004602	Q5FWF4	ZRAB3_HUMAN		9	1196	-			B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	0	1	hg19	c.1080A>C	CCDS46419.1	1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183042	0.57800	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92699	-3.09;-3.09;-3.09	5.21	2.83	0.33086	5.21	2.83	0.33086	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	N	0.21240	0.645	0.44789	D	0.997797	P;P;P	0.47302	0.893;0.802;0.454	B;P;P	0.49477	0.428;0.612;0.465	D	0.84716	0.0737	10	0.52906	T	0.07	3.0918	8.4771	0.33021	0.0:0.3001:0.0:0.6999	.	300;360;360	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	360;360;360;300	ENSP00000383979:E360D;ENSP00000264159:E360D;ENSP00000441320:E360D	ENSP00000264159:E360D	E	-	3	2	2	ZRANB3	135749682	135749682	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.787000	0.38704	0.309000	0.22966	-0.415000	0.06103	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-16.773760	1	0.170000	NM_032143			10	10		88	87	1		1	0		0	0	23	0		9.972367e-01	3.587653e-02	0	0	0	3	0	10	88
R3HDM1	23518	broad.mit.edu	37	2	136399206	136399206	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	ENST00000264160.4	+	15	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	440							poly(A) RNA binding (GO:0044822)			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)		CTCATGGCGCACCTGTCGTCT	0.498																																						ENST00000264160.4	1.000000	0.850000	1	9.700000e-01	0.990000	0.986462	0.990000	1.000000																										0				38						c.(1318-1320)gcA>gcG		R3H domain containing 1							193.0	174.0	180.0					2																	136399206		2203	4300	6503	SO:0001819	synonymous_variant	23518	0	0					g.chr2:136399206A>G	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.1320A>G	chr2.hg19:g.136399206A>G		1					R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000443537.2_Intron	p.A440A	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	1	3	4	2.004602	Q15032	R3HD1_HUMAN		15	1690	+			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	1	1	hg19	c.1320A>G	CCDS2177.1	1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133237	0.21041	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.76	2.28	0.28536	5.76	2.28	0.28536	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	-2.99	5.9648	0.19318	0.5055:0.2359:0.2587:0.0	.	.	.	.	A	129	.	.	T	+	1	0	0	R3HDM1	136115676	136115676	0.888000	0.30383	1.000000	0.80357	0.999000	0.98932	0.057000	0.14279	0.470000	0.27294	0.533000	0.62120	ACC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	0	0	1		19	2	2	1		1	1	136		136	133	1	2.060000	-14.953650	1	0.170000	NM_015361			61	60		672	660	0		1	0		1	0	136	0		9.999997e-01	1.720463e-01	0	0	0	9	0	61	672
R3HDM1	23518	broad.mit.edu	37	2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000264160.4	+	17	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	564							poly(A) RNA binding (GO:0044822)			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)		GGTTCTGACCCTCATGCCGCC	0.502																																						ENST00000264160.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1690-1692)cCt>cTt		R3H domain containing 1							203.0	181.0	189.0					2																	136409370		2203	4300	6503	SO:0001583	missense	23518	0	0					g.chr2:136409370C>T	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.1691C>T	chr2.hg19:g.136409370C>T	ENSP00000264160:p.Pro564Leu	1					R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L	p.P564L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	1	3	4	2.004602	Q15032	R3HD1_HUMAN		17	2061	+			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	1	1	hg19	c.1691C>T	CCDS2177.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863531	0.91511	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.061254	0.64402	D	0.000002	T	0.68568	0.3015	M	0.75777	2.31	0.80722	D	1	D;P;D;D	0.61697	0.99;0.937;0.986;0.986	D;B;P;P	0.62955	0.909;0.328;0.674;0.674	T	0.71978	-0.4429	10	0.72032	D	0.01	-9.5794	19.2069	0.93734	0.0:1.0:0.0:0.0	.	436;565;509;564	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	L	436;564;435;509;565	ENSP00000386457:P436L;ENSP00000264160:P564L;ENSP00000331396:P435L;ENSP00000386877:P509L;ENSP00000387010:P565L	ENSP00000264160:P564L	P	+	2	0	0	R3HDM1	136125840	136125840	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.235000	0.58666	2.520000	0.84964	0.561000	0.74099	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	1	0	1		2	2	2	0		0	0	191		191	189	1	2.060000	-7.368284	1	0.170000	NM_015361			250	245		754	724	1		1	1		0	0	191	0		1	9.999483e-01	0	21	0	24	0	250	754
R3HDM1	23518	broad.mit.edu	37	2	136481790	136481790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000264160.4	+	26	3598	c.3228T>C	c.(3226-3228)gtT>gtC	p.V1076V	R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000409606.1_Silent_p.V1077V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1076							poly(A) RNA binding (GO:0044822)	p.V1076V(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)		TTAACTCAGTTAACAAGTTTA	0.448																																						ENST00000264160.4	1.000000	0.570000	1	7.600000e-01	0.990000	0.913672	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V1076V(1)	kidney(1)	38						c.(3226-3228)gtT>gtC		R3H domain containing 1							66.0	61.0	63.0					2																	136481790		2203	4300	6503	SO:0001819	synonymous_variant	23518	0	0					g.chr2:136481790T>C	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.3228T>C	chr2.hg19:g.136481790T>C		1					R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000409606.1_Silent_p.V1077V	p.V1076V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	1	3	4	2.004602	Q15032	R3HD1_HUMAN		26	3598	+			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	1	1	hg19	c.3228T>C	CCDS2177.1	1	.	.	.	.	.	.	.	.	.	.	T	5.230	0.227914	0.09916	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.74	1.73	0.24493	5.74	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9318	8.1282	0.31012	0.0:0.1243:0.4865:0.3891	.	.	.	.	Q	800	.	.	X	+	1	0	0	R3HDM1	136198260	136198260	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.328000	0.19681	0.501000	0.28013	0.459000	0.35465	TAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-19.292490	1	0.170000	NM_015361			15	15		196	193	1		1	1		0	0	43	0		9.998774e-01	9.554446e-01	0	15	0	56	0	15	196
UBXN4	23190	broad.mit.edu	37	2	136513182	136513182	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	143					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398																																						ENST00000272638.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(427-429)acT>acG		UBX domain protein 4							104.0	99.0	101.0					2																	136513182		1852	4116	5968	SO:0001819	synonymous_variant	23190	0	0					g.chr2:136513182T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.429T>G	chr2.hg19:g.136513182T>G		1					UBXN4_ENST00000490163.1_3'UTR	p.T143T	NM_014607.3	NP_055422.1	1	3	4	2.004602	Q92575	UBXN4_HUMAN		5	740	+			A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	1	1	hg19	c.429T>G	CCDS42761.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_014607			91	89		250	245	1		1	1		0	0	80	0		1	1	0	179	0	281	0	91	250
UBXN4	23190	broad.mit.edu	37	2	136533888	136533888	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	340	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358																																						ENST00000272638.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1018-1020)gcT>gcG		UBX domain protein 4							123.0	110.0	114.0					2																	136533888		1838	4092	5930	SO:0001819	synonymous_variant	23190	0	0					g.chr2:136533888T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1020T>G	chr2.hg19:g.136533888T>G		1					UBXN4_ENST00000490163.1_3'UTR	p.A340A	NM_014607.3	NP_055422.1	1	3	4	2.004602	Q92575	UBXN4_HUMAN		10	1331	+			A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	1	1	hg19	c.1020T>G	CCDS42761.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_014607			75	75		177	176	1		1	1		0	0	61	0		1	1	0	145	0	216	0	75	177
UBXN4	23190	broad.mit.edu	37	2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	504					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348																																						ENST00000272638.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1510-1512)tCc>tTc		UBX domain protein 4							104.0	102.0	103.0					2																	136540441		1850	4100	5950	SO:0001583	missense	23190	0	0					g.chr2:136540441C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1511C>T	chr2.hg19:g.136540441C>T	ENSP00000272638:p.Ser504Phe	1					UBXN4_ENST00000490163.1_3'UTR	p.S504F	NM_014607.3	NP_055422.1	1	3	4	2.004602	Q92575	UBXN4_HUMAN		13	1822	+			A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	1	1	hg19	c.1511C>T	CCDS42761.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460317	0.84317	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.75050	-0.9	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89257	0.3595	10	0.87932	D	0	.	19.3516	0.94389	0.0:1.0:0.0:0.0	.	504	Q92575	UBXN4_HUMAN	F	504;486	ENSP00000272638:S504F	ENSP00000272638:S504F	S	+	2	0	0	UBXN4	136256911	136256911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.557000	0.86248	0.643000	0.83706	TCC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-8.873414	1	0.170000	NM_014607			152	151		383	380	1		1	1		0	0	94	0		1	1	0	205	0	347	0	152	383
LCT	3938	broad.mit.edu	37	2	136567505	136567505	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	804	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)			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)	GGCCTTCGAAGCCATCAATGA	0.443																																						ENST00000264162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(2410-2412)ggC>ggT		lactase	Vitamin C(DB00126)						63.0	64.0	64.0					2																	136567505		2203	4300	6503	SO:0001819	synonymous_variant	3938	0	0					g.chr2:136567505G>A	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.2412C>T	chr2.hg19:g.136567505G>A		1					Y_RNA_ENST00000363794.1_RNA	p.G804G	NM_002299.2	NP_002290.2	1	3	4	2.004602	P09848	LPH_HUMAN		8	2422	-			Q4ZG58	Silent	SNP	ENST00000264162.2	1	1	hg19	c.2412C>T	CCDS2178.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_002299			127	126		351	342	1		1			0	0	65	0		1	0	0	0	0	0	0	127	351
LCT	3938	broad.mit.edu	37	2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	760	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)			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)	TTCACTTTCCCCTATGGGCAT	0.443																																						ENST00000264162.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996011	0.990000	1.000000																										0				124						c.(2278-2280)gGg>gAg		lactase	Vitamin C(DB00126)						100.0	102.0	102.0					2																	136569955		2203	4300	6503	SO:0001583	missense	3938	0	0					g.chr2:136569955C>T	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.2279G>A	chr2.hg19:g.136569955C>T	ENSP00000264162:p.Gly760Glu	1					Y_RNA_ENST00000363794.1_RNA	p.G760E	NM_002299.2	NP_002290.2	1	3	4	2.004602	P09848	LPH_HUMAN		7	2289	-			Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	1	1	hg19	c.2279G>A	CCDS2178.1	1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571513	0.03882	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.36	1.61	0.23674	5.36	1.61	0.23674	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.196938	0.43110	D	0.000601	T	0.11665	0.0284	N	0.12746	0.255	0.38293	D	0.942758	B	0.10296	0.003	B	0.18871	0.023	T	0.25502	-1.0130	10	0.02654	T	1	-13.6472	5.1686	0.15098	0.0:0.4355:0.2938:0.2706	.	760	P09848	LPH_HUMAN	E	760;192	ENSP00000264162:G760E	ENSP00000264162:G760E	G	-	2	0	0	LCT	136286425	136286425	0.931000	0.31567	0.996000	0.52242	0.975000	0.68041	1.299000	0.33424	0.591000	0.29711	0.655000	0.94253	GGG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1		18	2	2	1		1	1	136		136	134	1	2.060000	-2.473695	0	0.170000	NM_002299			64	63		647	632	0		1			1	0	136	0		1	0	0	0	0	0	0	64	647
LCT	3938	broad.mit.edu	37	2	136570077	136570077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	719	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)			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)	AGGATGAGGTCTGGGGCCACA	0.522																																						ENST00000264162.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994496	0.990000	1.000000																										0				124						c.(2155-2157)caG>caA		lactase	Vitamin C(DB00126)						96.0	95.0	95.0					2																	136570077		2203	4300	6503	SO:0001819	synonymous_variant	3938	0	0					g.chr2:136570077C>T	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.2157G>A	chr2.hg19:g.136570077C>T		1					Y_RNA_ENST00000363794.1_RNA	p.Q719Q	NM_002299.2	NP_002290.2	1	3	4	2.004602	P09848	LPH_HUMAN		7	2167	-			Q4ZG58	Silent	SNP	ENST00000264162.2	1	1	hg19	c.2157G>A	CCDS2178.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.221883	1	0.170000	NM_002299			39	38		378	373	0		1			0	0	99	0		1	0	0	0	0	0	0	39	378
LCT	3938	broad.mit.edu	37	2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	509	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)			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)	TTCTGCCATCCACCATGATCC	0.577																																						ENST00000264162.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				124						c.(1525-1527)Gga>Tga		lactase	Vitamin C(DB00126)						102.0	88.0	93.0					2																	136575093		2203	4300	6503	SO:0001587	stop_gained	3938	0	0					g.chr2:136575093C>A	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.1525G>T	chr2.hg19:g.136575093C>A	ENSP00000264162:p.Gly509*	1					AC011893.3_ENST00000437007.1_RNA	p.G509*	NM_002299.2	NP_002290.2	1	3	4	2.004602	P09848	LPH_HUMAN		6	1535	-			Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	0	1	hg19	c.1525G>T	CCDS2178.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677799	0.88445	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8763	19.7399	0.96223	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	ENSP00000264162:G509X	G	-	1	0	0	LCT	136291563	136291563	1.000000	0.71417	0.752000	0.31206	0.020000	0.10135	7.776000	0.85560	2.736000	0.93811	0.561000	0.74099	GGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.018864	1	0.170000	NM_002299			42	42		264	259	0		1			0	0	58	0		1	0	0	0	0	0	0	42	264
LCT	3938	broad.mit.edu	37	2	136594308	136594308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	144	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)			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)	CAAAGGCTTCGGTTCTCCGGA	0.597																																						ENST00000264162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(430-432)acC>acT		lactase	Vitamin C(DB00126)						107.0	95.0	99.0					2																	136594308		2203	4300	6503	SO:0001819	synonymous_variant	3938	6	121412	38				g.chr2:136594308G>A	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.432C>T	chr2.hg19:g.136594308G>A		1						p.T144T	NM_002299.2	NP_002290.2	1	3	4	2.004602	P09848	LPH_HUMAN		1	442	-			Q4ZG58	Silent	SNP	ENST00000264162.2	1	1	hg19	c.432C>T	CCDS2178.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_002299			80	77		203	194	1		1			0	0	60	0		1	0	0	0	0	0	0	80	203
MCM6	4175	broad.mit.edu	37	2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	778					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)			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)		GTGAGTCGATGAATAACTTTC	0.418																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2332-2334)Cat>Tat		minichromosome maintenance complex component 6							135.0	127.0	130.0					2																	136602132		2203	4300	6503	SO:0001583	missense	4175	0	0					g.chr2:136602132G>A		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.2332C>T	chr2.hg19:g.136602132G>A	ENSP00000264156:p.His778Tyr	1					MCM6_ENST00000492091.1_5'Flank	p.H778Y	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		16	2392	-			B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	1	1	hg19	c.2332C>T	CCDS2179.1	1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416079	0.42817	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	5.74	3.76	0.43208	5.74	3.76	0.43208	.	0.417665	0.30227	N	0.010116	T	0.04092	0.0114	L	0.32530	0.975	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.56958	D	0.05	-2.0985	12.1062	0.53813	0.1072:0.0:0.8928:0.0	.	778	Q14566	MCM6_HUMAN	Y	778	ENSP00000264156:H778Y	ENSP00000264156:H778Y	H	-	1	0	0	MCM6	136318602	136318602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	0.622000	0.30249	0.650000	0.86243	CAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-7.500804	1	0.170000	NM_005915			95	91		236	230	1		1	1		0	0	60	0		1	1	0	44	0	52	0	95	236
MCM6	4175	broad.mit.edu	37	2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	752					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)			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)		TTTCCTTCAAGTACCAGTTAA	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.810000	1	9.600000e-01	0.990000	0.981603	0.990000	1.000000																										0				29						c.(2254-2256)taC>taA		minichromosome maintenance complex component 6							152.0	145.0	147.0					2																	136602208		2203	4300	6503	SO:0001587	stop_gained	4175	0	0					g.chr2:136602208G>T		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.2256C>A	chr2.hg19:g.136602208G>T	ENSP00000264156:p.Tyr752*	1					MCM6_ENST00000492091.1_5'UTR	p.Y752*	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		16	2316	-			B2R6H2|Q13504|Q99859	Nonsense_Mutation	SNP	ENST00000264156.2	0	1	hg19	c.2256C>A	CCDS2179.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.611460	0.96637	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.86	4.06	0.47325	5.86	4.06	0.47325	.	0.111455	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1339	8.1078	0.30896	0.2921:0.0:0.7079:0.0	.	.	.	.	X	752	.	ENSP00000264156:Y752X	Y	-	3	2	2	MCM6	136318678	136318678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	1.488000	0.48433	0.650000	0.86243	TAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0		2	2	2	0		0	0	102		102	102	1	2.060000	-11.709270	1	0.170000	NM_005915			40	39		437	430	0		1	1		0	0	102	0		1	9.994216e-01	0	4	0	119	0	40	437
MCM6	4175	broad.mit.edu	37	2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A	rs564036914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	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)			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)		TCTACTATGCGCCTGGCAATG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.001		0.0	False		,,,				2504	0.0				Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1651-1653)Cgc>Tgc		minichromosome maintenance complex component 6							92.0	86.0	88.0					2																	136610461		2203	4300	6503	SO:0001583	missense	4175	3	121408	34				g.chr2:136610461G>A		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.1651C>T	chr2.hg19:g.136610461G>A	ENSP00000264156:p.Arg551Cys	1					MCM6_ENST00000492091.1_Intron	p.R551C	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		12	1711	-			B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	1	1	hg19	c.1651C>T	CCDS2179.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650320	0.87958	.	.	ENSG00000076003	ENST00000264156	T	0.06768	3.26	5.77	4.87	0.63330	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05273	-1.0895	10	0.87932	D	0	-9.537	15.9876	0.80174	0.0:0.0:0.8642:0.1358	.	551	Q14566	MCM6_HUMAN	C	551	ENSP00000264156:R551C	ENSP00000264156:R551C	R	-	1	0	0	MCM6	136326931	136326931	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.573000	0.82421	1.405000	0.46838	0.557000	0.71058	CGC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-4.963721	1	0.170000	NM_005915			66	65		196	194	1		1	1		0	0	80	0		1	1	0	55	0	49	0	66	196
MCM6	4175	broad.mit.edu	37	2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	548	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)			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)		GCGCCTGGCAATGGCATAATC	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1642-1644)aTt>aCt		minichromosome maintenance complex component 6							91.0	86.0	88.0					2																	136610469		2203	4300	6503	SO:0001583	missense	4175	0	0					g.chr2:136610469A>G		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.1643T>C	chr2.hg19:g.136610469A>G	ENSP00000264156:p.Ile548Thr	1					MCM6_ENST00000492091.1_Intron	p.I548T	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		12	1703	-			B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	1	1	hg19	c.1643T>C	CCDS2179.1	1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457286	0.84317	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54105	-0.8343	10	0.87932	D	0	-18.6403	16.0818	0.81010	1.0:0.0:0.0:0.0	.	548	Q14566	MCM6_HUMAN	T	548	ENSP00000264156:I548T	ENSP00000264156:I548T	I	-	2	0	0	MCM6	136326939	136326939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.904000	0.92590	2.206000	0.71126	0.455000	0.32223	ATT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_005915			67	66		201	200	1		1	1		0	0	79	0		1	1	0	61	0	54	0	67	201
MCM6	4175	broad.mit.edu	37	2	136614334	136614334	+	Silent	SNP	G	G	A	rs372757156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	530	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)			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)		AGAAGAGATCGAATCGGGACA	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1588-1590)ttC>ttT		minichromosome maintenance complex component 6		G		1,4405	2.1+/-5.4	0,1,2202	137.0	132.0	134.0		1590	4.5	1.0	2		134	0,8600		0,0,4300	no	coding-synonymous	MCM6	NM_005915.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		530/822	136614334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4175	3	121412	35				g.chr2:136614334G>A		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.1590C>T	chr2.hg19:g.136614334G>A		1					MCM6_ENST00000492091.1_Intron	p.F530F	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		11	1650	-			B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	1	1	hg19	c.1590C>T	CCDS2179.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-11.970300	1	0.170000	NM_005915			134	132		283	280	1		1	1		0	0	61	0		1	1	0	45	0	48	0	134	283
MCM6	4175	broad.mit.edu	37	2	136627930	136627930	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	86					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)			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)		TAAGGGTAAACTCTGAAAAAC	0.433																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(256-258)Gtt>Att		minichromosome maintenance complex component 6							113.0	122.0	119.0					2																	136627930		2203	4300	6503	SO:0001630	splice_region_variant	4175	0	0					g.chr2:136627930C>T		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.255-1G>A	chr2.hg19:g.136627930C>T		1						p.V86I	NM_005915.5	NP_005906.2	1	3	4	2.004602	Q14566	MCM6_HUMAN		3	316	-			B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	1	0	hg19	c.256G>A	CCDS2179.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089667	0.55968	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.5	5.5	0.81552	5.5	5.5	0.81552	Nucleic acid-binding, OB-fold-like (1);	0.055393	0.64402	D	0.000001	T	0.14013	0.0339	L	0.49513	1.565	0.80722	D	1	B	0.17852	0.024	B	0.20767	0.031	T	0.09079	-1.0691	10	0.21014	T	0.42	-21.2407	19.3903	0.94578	0.0:1.0:0.0:0.0	.	86	Q14566	MCM6_HUMAN	I	86	ENSP00000264156:V86I	ENSP00000264156:V86I	V	-	1	0	0	MCM6	136344400	136344400	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.859000	0.62954	2.578000	0.87016	0.650000	0.86243	GTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_005915	Missense_Mutation		220	215		548	535	0		1	1		0	0	128	0		1	1	0	28	0	60	0	220	548
DARS	1615	broad.mit.edu	37	2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	345					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368																																						ENST00000264161.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.990390	0.990000	1.000000																										0				15						c.(1033-1035)aGa>aAa		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						133.0	131.0	131.0					2																	136673868		2203	4300	6503	SO:0001583	missense	1615	0	0					g.chr2:136673868C>T	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1034G>A	chr2.hg19:g.136673868C>T	ENSP00000264161:p.Arg345Lys	1					DARS_ENST00000537273.1_Missense_Mutation_p.R245K	p.R345K	NM_001349.2	NP_001340.2	1	3	4	2.004602	P14868	SYDC_HUMAN		11	1249	-			A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	1	1	hg19	c.1034G>A	CCDS2180.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.86865	-1.51;-2.18;-1.51	5.43	5.43	0.79202	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.49350	1.555	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.78919	-0.2014	10	0.21014	T	0.42	-16.9407	19.6188	0.95647	0.0:1.0:0.0:0.0	.	345	P14868	SYDC_HUMAN	K	345;59;245	ENSP00000264161:R345K;ENSP00000387508:R59K;ENSP00000444192:R245K	ENSP00000264161:R345K	R	-	2	0	0	DARS	136390338	136390338	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.746000	0.68681	2.699000	0.92147	0.650000	0.86243	AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-13.017540	1	0.170000	NM_001349			45	44		467	460	1		1	1		0	0	89	0		1	1	0	58	0	399	0	45	467
CXCR4	7852	broad.mit.edu	37	2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000241393.3	-	2	1120	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.S343Y	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	339					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGTGGAAACAGATGAATGTCC	0.418																																						ENST00000241393.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.994925	0.990000	1.000000																										0				25						c.(1015-1017)tCt>tAt		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)|Plerixafor(DB06809)						180.0	172.0	175.0					2																	136872482		2203	4300	6503	SO:0001583	missense	7852	0	0					g.chr2:136872482G>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1016C>A	chr2.hg19:g.136872482G>T	ENSP00000241393:p.Ser339Tyr	1					CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.S343Y	p.S339Y	NM_003467.2	NP_003458.1	1	3	4	2.004602	P61073	CXCR4_HUMAN		2	1120	-			B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	1	1	hg19	c.1016C>A	CCDS46420.1	1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091409	0.36855	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61627	0.09;0.09	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.195409	0.56097	D	0.000035	T	0.64605	0.2613	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.68032	-0.5516	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	339;343	P61073;P61073-2	CXCR4_HUMAN;.	Y	343;339;209	ENSP00000386884:S343Y;ENSP00000241393:S339Y	ENSP00000241393:S339Y	S	-	2	0	0	CXCR4	136588952	136588952	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-18.579590	1	0.170000				11	11		78	78	1		1	1		0	0	21	0		9.986929e-01	1	0	4	0	731	0	11	78
CXCR4	7852	broad.mit.edu	37	2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000241393.3	-	2	658	c.554T>G	c.(553-555)aTc>aGc	p.I185S	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.I189S	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCGGTCACAGATATATCTGTC	0.512																																						ENST00000241393.3	1.000000	0.320000	1	4.300000e-01	0.560000	0.640575	0.560000	0.520000																										0				25						c.(553-555)aTc>aGc		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)|Plerixafor(DB06809)						133.0	119.0	123.0					2																	136872944		2203	4300	6503	SO:0001583	missense	7852	0	0					g.chr2:136872944A>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.554T>G	chr2.hg19:g.136872944A>C	ENSP00000241393:p.Ile185Ser	1					CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.I189S	p.I185S	NM_003467.2	NP_003458.1	1	3	4	2.004602	P61073	CXCR4_HUMAN		2	658	-			B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	1	1	hg19	c.554T>G	CCDS46420.1	0	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733907	0.30684	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.35973	1.28;1.28	6.17	5.03	0.67393	6.17	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.32406	0.0828	N	0.26162	0.8	0.50467	D	0.999876	B;D	0.57899	0.376;0.981	P;P	0.46110	0.479;0.504	T	0.00867	-1.1534	10	0.24483	T	0.36	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	S	189;185;55	ENSP00000386884:I189S;ENSP00000241393:I185S	ENSP00000241393:I185S	I	-	2	0	0	CXCR4	136589414	136589414	0.962000	0.33011	0.834000	0.33040	0.470000	0.32858	6.178000	0.71968	1.161000	0.42604	-0.250000	0.11733	ATC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-18.062560	1	0.170000				18	18		438	431	0		1	0		0	0	93	0		9.999802e-01	9.999985e-01	0	0	0	586	0	18	438
THSD7B	80731	broad.mit.edu	37	2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A	rs373017033		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	599						integral component of membrane (GO:0016021)				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)		ATTCCCTGCCGAATGGACTGT	0.488																																						ENST00000409968.1	1.000000	0.570000	1	7.400000e-01	0.980000	0.901723	0.980000	1.000000																										0				134						c.(1795-1797)cGa>cAa		thrombospondin, type I, domain containing 7B		G	GLN/ARG	1,3991		0,1,1995	95.0	96.0	95.0		1703	4.1	1.0	2		95	0,8316		0,0,4158	no	missense	THSD7B	NM_001080427.1	43	0,1,6153	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	568/1578	137988686	1,12307	1996	4158	6154	SO:0001583	missense	80731	3	120922	37				g.chr2:137988686G>A			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.1796G>A	chr2.hg19:g.137988686G>A	ENSP00000387145:p.Arg599Gln	1					THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000543459.1_Intron	p.R599Q			1	3	4	2.004602	Q9C0I4	THS7B_HUMAN		8	1974	+				Missense_Mutation	SNP	ENST00000409968.1	1	1	hg19	c.1796G>A		1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779624	0.70107	2.51E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	4.09	0.47781	5.89	4.09	0.47781	.	0.705388	0.14196	N	0.334986	T	0.39759	0.1090	L	0.28115	0.83	0.80722	D	1	D;P	0.56746	0.977;0.938	B;B	0.40444	0.329;0.329	T	0.14783	-1.0460	10	0.34782	T	0.22	.	6.6903	0.23167	0.1639:0.2698:0.5663:0.0	.	599;568	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	599;599;568	ENSP00000387145:R599Q;ENSP00000272643:R599Q;ENSP00000413841:R568Q	ENSP00000272643:R599Q	R	+	2	0	0	THSD7B	137705156	137705156	0.927000	0.31430	0.992000	0.48379	0.969000	0.65631	4.797000	0.62503	1.503000	0.48686	0.563000	0.77884	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-6.097678	1	0.170000	XM_046570.9			17	17		231	223	0		1	0		0	0	52	0		9.999606e-01	8.769364e-02	0	0	0	7	0	17	231
THSD7B	80731	broad.mit.edu	37	2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A	rs201127163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1163	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				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)		CATCACTGAACTCAAGGACTT	0.443																																						ENST00000409968.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.989771	0.990000	1.000000																										0				134						c.(3481-3483)aaC>aaA		thrombospondin, type I, domain containing 7B							159.0	170.0	166.0					2																	138373804		2118	4225	6343	SO:0001583	missense	80731	0	0					g.chr2:138373804C>A			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.3483C>A	chr2.hg19:g.138373804C>A	ENSP00000387145:p.Asn1161Lys	1					THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K|THSD7B_ENST00000543459.1_Intron	p.N1161K			1	3	4	2.004602	Q9C0I4	THS7B_HUMAN		18	3661	+				Missense_Mutation	SNP	ENST00000409968.1	1	1	hg19	c.3483C>A		1	.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466125	0.04476	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18174	2.23;2.23;2.23	5.2	0.0549	0.14312	5.2	0.0549	0.14312	.	0.564048	0.21965	N	0.066528	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35798	-0.9774	10	0.12103	T	0.63	.	4.6827	0.12743	0.1435:0.4232:0.0:0.4333	.	1133	C9JKN6	.	K	1161;1164;1133	ENSP00000387145:N1161K;ENSP00000272643:N1164K;ENSP00000413841:N1133K	ENSP00000272643:N1164K	N	+	3	2	2	THSD7B	138090274	138090274	0.005000	0.15991	0.089000	0.20774	0.130000	0.20726	0.048000	0.14078	0.049000	0.15920	0.650000	0.86243	AAC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-20.000000	1	0.170000	XM_046570.9			60	59		645	634	0		1	0		0	0	135	0		1	2.447882e-01	0	0	0	11	0	60	645
SPOPL	339745	broad.mit.edu	37	2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T	rs564888975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	240	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		15678	0.0		0.0	False		,,,				2504	0.001					ENST00000280098.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.991580	0.990000	1.000000																										0				21						c.(718-720)Cga>Tga		speckle-type POZ protein-like							53.0	56.0	55.0					2																	139318378		2203	4300	6503	SO:0001587	stop_gained	339745	2	121404	28				g.chr2:139318378C>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.718C>T	chr2.hg19:g.139318378C>T	ENSP00000280098:p.Arg240*	1						p.R240*	NM_001001664.2	NP_001001664.1	1	3	4	2.004602	Q6IQ16	SPOPL_HUMAN		8	1097	+				Nonsense_Mutation	SNP	ENST00000280098.4	0	1	hg19	c.718C>T	CCDS33298.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.236883	0.98719	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.192219	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6407	13.8908	0.63738	0.1525:0.8475:0.0:0.0	.	.	.	.	X	240	.	.	R	+	1	2	2	SPOPL	139034848	139034848	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.890000	0.69774	2.554000	0.86153	0.591000	0.81541	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-9.877018	1	0.170000				23	23		213	209	0		1	1		0	0	45	0		9.999995e-01	9.686596e-01	0	2	0	53	0	23	213
LRP1B	53353	broad.mit.edu	37	2	140990894	140990894	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4554					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAATTTGTTGGCTGAAGGAG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.750000	1	9.700000e-01	0.990000	0.977484	0.990000	1.000000																										0				606						c.(13660-13662)cCa>cTa		low density lipoprotein receptor-related protein 1B							57.0	55.0	56.0					2																	140990894		2201	4293	6494	SO:0001630	splice_region_variant	53353	0	0					g.chr2:140990894G>A	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.13660-1C>T	chr2.hg19:g.140990894G>A		1	TSP Lung(27;0.18)					p.P4554L	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		91	14632	-		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)	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	1	0	hg19	c.13661C>T	CCDS2182.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080957|4.080957	0.76528|0.76528	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.49720|.	0.77|.	5.69|5.69	5.69|5.69	0.88448|0.88448	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71117|.	0.3302|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	B|.	0.41571|.	0.36|.	T|.	0.66396|.	-0.5934|.	10|.	0.87932|.	D|.	0|.	.|.	19.8102|19.8102	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4554|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	4554;4492|753	ENSP00000374135:P4554L|.	ENSP00000374135:P4554L|.	P|Q	-|-	2|1	0|0	0|0	LRP1B|LRP1B	140707364|140707364	140707364|140707364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.398000|6.398000	0.73244|0.73244	2.682000|2.682000	0.91365|0.91365	0.585000|0.585000	0.79938|0.79938	CCA|CAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0		18	2	2	0		0	1	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_018557	Missense_Mutation		19	19		195	191	0		1	0		0	0	37	0		6.057369e-01	0	0	0	0	1	0	19	195
LRP1B	53353	broad.mit.edu	37	2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4337	EGF-like 20. {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)			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)		CATCATCCCCAATGGTACATG	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.650000	1	8.100000e-01	0.990000	0.932237	0.990000	1.000000																										0				606						c.(13009-13011)atT>atG		low density lipoprotein receptor-related protein 1B							143.0	114.0	124.0					2																	141032124		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141032124A>C	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.13011T>G	chr2.hg19:g.141032124A>C	ENSP00000374135:p.Ile4337Met	1	TSP Lung(27;0.18)					p.I4337M	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		85	13982	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.13011T>G	CCDS2182.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.269|6.269	0.417832|0.417832	0.11870|0.11870	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90133|.	-2.62|.	5.36|5.36	-2.75|-2.75	0.05914|0.05914	5.36|5.36	-2.75|-2.75	0.05914|0.05914	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.189986|.	0.35320|.	U|.	0.003299|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.11427|0.11427	0.14|0.14	0.27396|0.27396	N|N	0.954992|0.954992	P|.	0.40476|.	0.718|.	B|.	0.33690|.	0.168|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.42905|.	T|.	0.14|.	.|.	3.9768|3.9768	0.09478|0.09478	0.492:0.0:0.2697:0.2383|0.492:0.0:0.2697:0.2383	.|.	4337|.	Q9NZR2|.	LRP1B_HUMAN|.	M|W	4337;4275|569;69	ENSP00000374135:I4337M|.	ENSP00000374135:I4337M|.	I|L	-|-	3|2	3|0	3|0	LRP1B|LRP1B	140748594|140748594	140748594|140748594	0.927000|0.927000	0.31430|0.31430	0.982000|0.982000	0.44146|0.44146	0.986000|0.986000	0.74619|0.74619	0.135000|0.135000	0.15952|0.15952	-0.221000|-0.221000	0.09973|0.09973	-0.333000|-0.333000	0.08304|0.08304	ATT|TTG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-7.907533	1	0.170000	NM_018557			25	25		318	312	0		1	0		0	0	62	0		9.999998e-01	0	0	0	0	1	0	25	318
LRP1B	53353	broad.mit.edu	37	2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3826	EGF-like 14. {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)			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)		TACAGCGACAGAAAACAGATG	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(11476-11478)ttC>ttA		low density lipoprotein receptor-related protein 1B							120.0	122.0	121.0					2																	141113963		2202	4300	6502	SO:0001583	missense	53353	0	0					g.chr2:141113963G>T	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.11478C>A	chr2.hg19:g.141113963G>T	ENSP00000374135:p.Phe3826Leu	1	TSP Lung(27;0.18)					p.F3826L	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		75	12449	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.11478C>A	CCDS2182.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056885|2.056885	0.36277|0.36277	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.27557|.	1.66|.	5.83|5.83	4.93|4.93	0.64822|0.64822	5.83|5.83	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.405864|.	0.24373|.	N|.	0.039086|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.30927|0.30927	N|N	0.727314|0.727314	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	10|5	0.12766|.	T|.	0.61|.	.|.	5.3529|5.3529	0.16045|0.16045	0.2398:0.1613:0.5989:0.0|0.2398:0.1613:0.5989:0.0	.|.	3826|.	Q9NZR2|.	LRP1B_HUMAN|.	L|Y	3826;3764|58	ENSP00000374135:F3826L|.	ENSP00000374135:F3826L|.	F|S	-|-	3|2	2|0	2|0	LRP1B|LRP1B	140830433|140830433	140830433|140830433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.148000|1.148000	0.31614|0.31614	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	TTC|TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-5.549639	1	0.170000	NM_018557			97	97		288	285	1		1			0	0	78	0		1	0	0	0	0	0	0	97	288
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24. {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)			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)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(10411-10413)tgC>tgT		low density lipoprotein receptor-related protein 1B							140.0	127.0	131.0					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353	1	121410	33				g.chr2:141200074G>A	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.10414+1C>T	chr2.hg19:g.141200074G>A		1	TSP Lung(27;0.18)					p.C3471C	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		66	11384	-		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)	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	1	0	hg19	c.10413C>T	CCDS2182.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-8.183288	1	0.170000	NM_018557	Silent		115	114		284	279	1		1			0	0	76	0		1	0	0	0	0	0	0	115	284
LRP1B	53353	broad.mit.edu	37	2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3342	LDL-receptor class A 21. {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)			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)		CCATCACCACAGTCATCCACG	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(10024-10026)Tgt>Cgt		low density lipoprotein receptor-related protein 1B							128.0	126.0	127.0					2																	141208170		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141208170A>G	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.10024T>C	chr2.hg19:g.141208170A>G	ENSP00000374135:p.Cys3342Arg	1	TSP Lung(27;0.18)					p.C3342R	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		63	10995	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.10024T>C	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704899	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.51	5.51	0.81932	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	3342	Q9NZR2	LRP1B_HUMAN	R	3342;3280	ENSP00000374135:C3342R	ENSP00000374135:C3342R	C	-	1	0	0	LRP1B	140924640	140924640	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.245000	0.95431	2.225000	0.72522	0.477000	0.44152	TGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_018557			128	126		310	301	1		1			0	0	69	0		1	0	0	0	0	0	0	128	310
LRP1B	53353	broad.mit.edu	37	2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3266					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTATAAGAATGATACAC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(9796-9798)tCt>tAt		low density lipoprotein receptor-related protein 1B							162.0	148.0	153.0					2																	141215049		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141215049G>T	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.9797C>A	chr2.hg19:g.141215049G>T	ENSP00000374135:p.Ser3266Tyr	1	TSP Lung(27;0.18)					p.S3266Y	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		61	10768	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.9797C>A	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353362	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.46	5.46	0.80206	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.080321	0.52532	U	0.000066	D	0.91798	0.7405	M	0.63428	1.95	0.49915	D	0.999831	P	0.52842	0.956	P	0.48030	0.564	D	0.92527	0.6030	10	0.66056	D	0.02	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3266	Q9NZR2	LRP1B_HUMAN	Y	3266;3204	ENSP00000374135:S3266Y	ENSP00000374135:S3266Y	S	-	2	0	0	LRP1B	140931519	140931519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_018557			144	142		372	363	1		1			0	0	106	0		1	0	0	0	0	0	0	144	372
LRP1B	53353	broad.mit.edu	37	2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3131					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTGGGAAACTTCAGCCTT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(9391-9393)Ttt>Att		low density lipoprotein receptor-related protein 1B							125.0	120.0	122.0					2																	141242946		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141242946A>T	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.9391T>A	chr2.hg19:g.141242946A>T	ENSP00000374135:p.Phe3131Ile	1	TSP Lung(27;0.18)					p.F3131I	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		59	10362	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.9391T>A	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374570	0.61735	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	5.44	0.79542	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.139448	0.47852	D	0.000201	D	0.84750	0.5541	N	0.11427	0.14	0.30025	N	0.813992	P	0.42827	0.791	B	0.37650	0.255	D	0.83385	0.0014	10	0.40728	T	0.16	.	11.7383	0.51778	0.8528:0.1472:0.0:0.0	.	3131	Q9NZR2	LRP1B_HUMAN	I	3131;3069	ENSP00000374135:F3131I	ENSP00000374135:F3131I	F	-	1	0	0	LRP1B	140959416	140959416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.153000	0.64888	2.178000	0.69098	0.533000	0.62120	TTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_018557			88	88		228	222	1		1			0	0	63	0		1	0	0	0	0	0	0	88	228
LRP1B	53353	broad.mit.edu	37	2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2967	EGF-like 11. {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)			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)		ATCAATGTCTACACATGTTTT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(8899-8901)gTa>gGa		low density lipoprotein receptor-related protein 1B							140.0	125.0	130.0					2																	141253268		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141253268A>C	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.8900T>G	chr2.hg19:g.141253268A>C	ENSP00000374135:p.Val2967Gly	1	TSP Lung(27;0.18)					p.V2967G	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		56	9871	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.8900T>G	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328978	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.73	5.73	0.89815	5.73	5.73	0.89815	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.174205	0.37623	N	0.002007	D	0.92753	0.7696	N	0.12961	0.28	0.80722	D	1	P	0.51147	0.942	P	0.54759	0.76	D	0.91102	0.4915	10	0.23302	T	0.38	.	11.9202	0.52787	0.9304:0.0:0.0696:0.0	.	2967	Q9NZR2	LRP1B_HUMAN	G	2967;2905	ENSP00000374135:V2967G	ENSP00000374135:V2967G	V	-	2	0	0	LRP1B	140969738	140969738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.195000	0.70347	0.477000	0.44152	GTA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_018557			71	67		131	128	0		1			0	0	45	0		1	0	0	0	0	0	0	71	131
LRP1B	53353	broad.mit.edu	37	2	141259311	141259311	+	Missense_Mutation	SNP	C	C	A	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	ENST00000389484.3	-	55	9766	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2932	EGF-like 11. {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)			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)		GACTTTCTTACTCAAACATTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.190000	1	2.800000e-01	0.410000	0.524959	0.410000	0.360000																										0				606						c.(8794-8796)aGt>aTt		low density lipoprotein receptor-related protein 1B							121.0	124.0	123.0					2																	141259311		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141259311C>A	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.8795G>T	chr2.hg19:g.141259311C>A	ENSP00000374135:p.Ser2932Ile	1	TSP Lung(27;0.18)					p.S2932I	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		55	9766	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	0	1	hg19	c.8795G>T	CCDS2182.1	0	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275321	0.80580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.71	5.71	0.89125	5.71	5.71	0.89125	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.058264	0.64402	U	0.000002	T	0.80008	0.4545	N	0.04116	-0.275	0.40241	D	0.977951	D	0.56521	0.976	P	0.47864	0.559	T	0.81662	-0.0831	10	0.30854	T	0.27	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	2932	Q9NZR2	LRP1B_HUMAN	I	2932;2870	ENSP00000374135:S2932I	ENSP00000374135:S2932I	S	-	2	0	0	LRP1B	140975781	140975781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	2.705000	0.92388	0.585000	0.79938	AGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-10.085010	1	0.170000	NM_018557			10	8		354	349	0		1			0	0	69	0		9.966662e-01	0	0	0	0	0	0	10	354
LRP1B	53353	broad.mit.edu	37	2	141283540	141283540	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2633	LDL-receptor class A 14. {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)			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)		CAAGCTTATAGAAATGTGTGC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.430000	1	5.700000e-01	0.770000	0.784168	0.770000	1.000000																										0				606						c.(7897-7899)ttC>ttT		low density lipoprotein receptor-related protein 1B							98.0	92.0	94.0					2																	141283540		2203	4300	6503	SO:0001819	synonymous_variant	53353	0	0					g.chr2:141283540G>A	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.7899C>T	chr2.hg19:g.141283540G>A		1	TSP Lung(27;0.18)					p.F2633F	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		49	8870	-		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)	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	1	1	hg19	c.7899C>T	CCDS2182.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.147955	1	0.170000	NM_018557			15	15		266	258	0		1			0	0	56	0		9.998551e-01	0	0	0	0	0	0	15	266
LRP1B	53353	broad.mit.edu	37	2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2281					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACAGTGTATCCCAGGCTCT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.590000	1	7.800000e-01	0.990000	0.923801	0.990000	1.000000																										0				606						c.(6841-6843)gAt>gGt		low density lipoprotein receptor-related protein 1B							132.0	115.0	120.0					2																	141359166		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141359166T>C	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.6842A>G	chr2.hg19:g.141359166T>C	ENSP00000374135:p.Asp2281Gly	1	TSP Lung(27;0.18)					p.D2281G	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		42	7813	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.6842A>G	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639947	0.87760	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88586	-2.4	5.04	5.04	0.67666	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.128995	0.49916	D	0.000131	D	0.93802	0.8018	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93964	0.7243	10	0.51188	T	0.08	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2281	Q9NZR2	LRP1B_HUMAN	G	2281;2219	ENSP00000374135:D2281G	ENSP00000374135:D2281G	D	-	2	0	0	LRP1B	141075636	141075636	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-6.402675	1	0.170000	NM_018557			15	15		190	186	0		1			0	0	41	0		9.998731e-01	0	0	0	0	0	0	15	190
LRP1B	53353	broad.mit.edu	37	2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1887					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATTCCTTCATGAACAGAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.996889	0.990000	1.000000																										0				606						c.(5659-5661)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							77.0	75.0	75.0					2																	141526881		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141526881C>T	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.5659G>A	chr2.hg19:g.141526881C>T	ENSP00000374135:p.Glu1887Lys	1	TSP Lung(27;0.18)					p.E1887K	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		35	6630	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.5659G>A	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775521	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	5.59	0.84812	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.87270	0.2285	10	0.08381	T	0.77	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1887	Q9NZR2	LRP1B_HUMAN	K	1887;1825	ENSP00000374135:E1887K	ENSP00000374135:E1887K	E	-	1	0	0	LRP1B	141243351	141243351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.142712	1	0.170000	NM_018557			27	27		232	230	1		1			0	0	45	0		1	0	0	0	0	0	0	27	232
LRP1B	53353	broad.mit.edu	37	2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G	rs375834878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1805					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCGTCTCTTTTGCTGCAGG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.740000	1	9.000000e-01	0.990000	0.965382	0.990000	1.000000																										0				606						c.(5413-5415)aaA>aaC		low density lipoprotein receptor-related protein 1B							126.0	122.0	123.0					2																	141533752		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141533752T>G	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.5415A>C	chr2.hg19:g.141533752T>G	ENSP00000374135:p.Lys1805Asn	1	TSP Lung(27;0.18)					p.K1805N	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		33	6386	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.5415A>C	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532527	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.69	4.54	0.55810	5.69	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.94101	3.495	0.46096	D	0.998861	D	0.76494	0.999	D	0.80764	0.994	D	0.96344	0.9253	10	0.56958	D	0.05	.	11.3858	0.49785	0.0:0.0704:0.0:0.9296	.	1805	Q9NZR2	LRP1B_HUMAN	N	1805;1743	ENSP00000374135:K1805N	ENSP00000374135:K1805N	K	-	3	2	2	LRP1B	141250222	141250222	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.091000	0.41691	1.010000	0.39314	0.482000	0.46254	AAA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_018557			31	31		358	348	0		1			0	0	57	0		1	0	0	0	0	0	0	31	358
LRP1B	53353	broad.mit.edu	37	2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTTCAGAACGTCTTGCATA	0.318										TSP Lung(27;0.18)			C|||	11	0.00219649	0.0083	0.0	5008	,	,		16035	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.700000	1	9.200000e-01	0.990000	0.967079	0.990000	1.000000																										0				606						c.(4741-4743)cGt>cAt		low density lipoprotein receptor-related protein 1B		C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	83.0	75.0	78.0		4742	2.7	0.9	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense	LRP1B	NM_018557.2	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	1581/4600	141607868	8,12998	2203	4300	6503	SO:0001583	missense	53353	34	121406	45				g.chr2:141607868C>T	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.4742G>A	chr2.hg19:g.141607868C>T	ENSP00000374135:p.Arg1581His	1	TSP Lung(27;0.18)					p.R1581H	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		29	5713	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.4742G>A	CCDS2182.1	1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.46	2.542902	0.45280	0.001816	0.0	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91631	-2.88;1.47	5.54	2.73	0.32206	5.54	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.88388	0.6423	L	0.56199	1.76	0.42541	D	0.993077	D;B	0.69078	0.997;0.001	D;B	0.64595	0.927;0.001	D	0.88028	0.2773	10	0.62326	D	0.03	.	8.6756	0.34176	0.0:0.6986:0.0:0.3014	.	764;1581	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1581;1519;726	ENSP00000374135:R1581H;ENSP00000413239:R726H	ENSP00000374135:R1581H	R	-	2	0	0	LRP1B	141324338	141324338	0.059000	0.20769	0.942000	0.38095	0.710000	0.40934	0.493000	0.22451	0.283000	0.22279	-0.657000	0.03884	CGT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-19.995720	1	0.170000	NM_018557			16	16		171	168	0		1			0	0	42	0		9.999383e-01	0	0	0	0	0	0	16	171
LRP1B	53353	broad.mit.edu	37	2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1323					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGCACTGACACCTACAAAA	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990635	0.990000	1.000000																										0				606						c.(3967-3969)Gtc>Atc		low density lipoprotein receptor-related protein 1B							94.0	89.0	90.0					2																	141641588		2203	4300	6503	SO:0001583	missense	53353	1	121398	28				g.chr2:141641588C>T	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.3967G>A	chr2.hg19:g.141641588C>T	ENSP00000374135:p.Val1323Ile	1	TSP Lung(27;0.18)					p.V1323I	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		25	4938	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.3967G>A	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177576	0.21787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-2.79;-3.96	5.54	5.54	0.83059	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93455	0.7912	N	0.25144	0.715	0.52501	D	0.999953	B;D	0.53312	0.277;0.959	B;B	0.43950	0.145;0.437	D	0.92742	0.6209	10	0.33940	T	0.23	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	506;1323	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1323;1261;468	ENSP00000374135:V1323I;ENSP00000413239:V468I	ENSP00000374135:V1323I	V	-	1	0	0	LRP1B	141358058	141358058	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.728000	0.68531	2.751000	0.94390	0.591000	0.81541	GTC	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_018557			35	34		351	344	0		1			0	0	86	0		1	0	0	0	0	0	0	35	351
LRP1B	53353	broad.mit.edu	37	2	141660727	141660727	+	Silent	SNP	A	A	G	rs370546332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176	EGF-like 5. {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)			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)		TGTTCAGCGAACACTCATCTA	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.170000	1	2.600000e-01	0.410000	0.524210	0.410000	0.340000																										0				606						c.(3526-3528)tgT>tgC		low density lipoprotein receptor-related protein 1B		A		0,4406		0,0,2203	73.0	63.0	67.0		3528	1.8	1.0	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1176/4600	141660727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353	11	121402	41				g.chr2:141660727A>G	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.3528T>C	chr2.hg19:g.141660727A>G		1	TSP Lung(27;0.18)					p.C1176C	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		23	4499	-		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)	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	1	1	hg19	c.3528T>C	CCDS2182.1	0																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-8.624247	1	0.170000	NM_018557			7	7		257	251	0		1	0		0	0	61	0		9.793636e-01	0	0	0	0	1	0	7	257
LRP1B	53353	broad.mit.edu	37	2	141665573	141665573	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1131	LDL-receptor class A 9. {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)			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)		AGAAACTGTCACAGTCATCTT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(3391-3393)tgT>tgC		low density lipoprotein receptor-related protein 1B							197.0	160.0	173.0					2																	141665573		2203	4300	6503	SO:0001819	synonymous_variant	53353	0	0					g.chr2:141665573A>G	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.3393T>C	chr2.hg19:g.141665573A>G		1	TSP Lung(27;0.18)					p.C1131C	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		22	4364	-		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)	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	1	1	hg19	c.3393T>C	CCDS2182.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_018557			126	122		298	293	1		1			0	0	72	0		1	0	0	0	0	0	0	126	298
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	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)			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)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.740000	1	8.800000e-01	0.990000	0.960164	0.990000	1.000000																										0				606						c.(2659-2661)Cct>Tct		low density lipoprotein receptor-related protein 1B							115.0	107.0	110.0					2																	141747212		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141747212G>A	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.2659C>T	chr2.hg19:g.141747212G>A	ENSP00000374135:p.Pro887Ser	1	TSP Lung(27;0.18)				Y_RNA_ENST00000365022.1_RNA	p.P887S	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		17	3630	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.2659C>T	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815714	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91399	0.7286	N	0.21508	0.67	0.52501	D	0.999958	P	0.45672	0.864	P	0.48368	0.575	D	0.87747	0.2589	10	0.02654	T	1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	S	887;825	ENSP00000374135:P887S	ENSP00000374135:P887S	P	-	1	0	0	LRP1B	141463682	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-10.491080	1	0.170000	NM_018557			38	37		454	439	0		1			0	0	89	0		1	0	0	0	0	0	0	38	454
LRP1B	53353	broad.mit.edu	37	2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	552					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATTTTCTATGGGGATCATG	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.850000	1	9.600000e-01	0.990000	0.984804	0.990000	1.000000																										0				606						c.(1654-1656)Ata>Gta		low density lipoprotein receptor-related protein 1B							187.0	182.0	184.0					2																	141806690		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141806690T>C	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.1654A>G	chr2.hg19:g.141806690T>C	ENSP00000374135:p.Ile552Val	1	TSP Lung(27;0.18)					p.I552V	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		11	2625	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.1654A>G	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477058	0.26511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.49	5.49	0.81192	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	L	0.55481	1.735	0.50632	D	0.999882	D	0.59357	0.985	D	0.67548	0.952	D	0.91523	0.5236	10	0.24483	T	0.36	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	552	Q9NZR2	LRP1B_HUMAN	V	552;490	ENSP00000374135:I552V	ENSP00000374135:I552V	I	-	1	0	0	LRP1B	141523160	141523160	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.929000	0.87595	2.074000	0.62210	0.460000	0.39030	ATA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-17.077590	1	0.170000	NM_018557			73	72		823	811	0		1	0		0	0	145	0		1	6.874751e-03	0	0	0	2	0	73	823
LRP1B	53353	broad.mit.edu	37	2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	272					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCATTCATCTGTTAATCCT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	0.240000	1	3.300000e-01	0.470000	0.567754	0.470000	0.410000																										0				606						c.(814-816)Gat>Aat		low density lipoprotein receptor-related protein 1B							126.0	126.0	126.0					2																	141986788		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141986788C>T	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.814G>A	chr2.hg19:g.141986788C>T	ENSP00000374135:p.Asp272Asn	1	TSP Lung(27;0.18)					p.D272N	NM_018557.2	NP_061027.2	1	3	4	2.004602	Q9NZR2	LRP1B_HUMAN		6	1785	-		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.814G>A	CCDS2182.1	0	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936743	0.73557	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.2	4.31	0.51392	5.2	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.270481	0.30930	U	0.008597	D	0.83317	0.5228	L	0.29908	0.895	0.30447	N	0.775605	B	0.09022	0.002	B	0.06405	0.002	T	0.72676	-0.4221	10	0.13470	T	0.59	.	13.7859	0.63110	0.0:0.9233:0.0:0.0767	.	272	Q9NZR2	LRP1B_HUMAN	N	272;210	ENSP00000374135:D272N	ENSP00000374135:D272N	D	-	1	0	0	LRP1B	141703258	141703258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.440000	0.82611	0.585000	0.79938	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.328370	1	0.170000	NM_018557			12	12		365	359	0		1			0	0	78	0		9.990622e-01	0	0	0	0	0	0	12	365
KYNU	8942	broad.mit.edu	37	2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000410015.2	+	4	413	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000264170.4_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GGGAAGCGTCCTTGGATTACA	0.363																																						ENST00000410015.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(322-324)cCt>cAt		kynureninase							207.0	194.0	198.0					2																	143685260		2203	4300	6503	SO:0001583	missense	8942	0	0					g.chr2:143685260C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.323C>A	chr2.hg19:g.143685260C>A	ENSP00000387296:p.Pro108His	1					KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H|KYNU_ENST00000264170.4_Missense_Mutation_p.P108H	p.P108H			1	3	4	2.004602				4	413	+				Missense_Mutation	SNP	ENST00000410015.2	1	1	hg19	c.323C>A		1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134064	0.77662	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.54675	0.56;0.56;0.56	5.88	5.88	0.94601	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.92970	3.365	0.48135	D	0.999597	D;D	0.89917	0.998;1.0	D;D	0.91635	0.969;0.999	D	0.83707	0.0185	10	0.72032	D	0.01	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	108;108	Q16719;Q9BVW3	KYNU_HUMAN;.	H	108	ENSP00000264170:P108H;ENSP00000364928:P108H;ENSP00000386731:P108H	ENSP00000264170:P108H	P	+	2	0	0	KYNU	143401730	143401730	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.831000	0.62752	2.792000	0.96026	0.557000	0.71058	CCT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-13.787740	1	0.170000	NM_001032998			212	207		476	472	1		1	1		0	0	112	0		1	1	0	23	0	57	0	212	476
KYNU	8942	broad.mit.edu	37	2	143742745	143742745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GCTGGTGTTCCTACAAGGTAC	0.393																																						ENST00000264170.4	1.000000	0.710000	1	8.600000e-01	0.990000	0.951702	0.990000	1.000000																										0				36						c.(820-822)tcC>tcA		kynureninase							208.0	194.0	199.0					2																	143742745		2203	4300	6503	SO:0001819	synonymous_variant	8942	0	0					g.chr2:143742745C>A	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.822C>A	chr2.hg19:g.143742745C>A		1					KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	p.S274S	NM_003937.2	NP_003928.1	1	3	4	2.004602				9	1080	+				Silent	SNP	ENST00000264170.4	1	1	hg19	c.822C>A	CCDS2183.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-2.642100	1	0.170000	NM_001032998			33	32		402	397	0		1	1		0	0	65	0		1	9.901680e-01	0	6	0	84	0	33	402
ARHGAP15	55843	broad.mit.edu	37	2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000295095.6	+	3	340	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R58I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	58					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303																																						ENST00000295095.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(172-174)aGa>aTa		Rho GTPase activating protein 15							109.0	109.0	109.0					2																	143959710		2203	4299	6502	SO:0001583	missense	55843	0	0					g.chr2:143959710G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.173G>T	chr2.hg19:g.143959710G>T	ENSP00000295095:p.Arg58Ile	1					ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R58I	p.R58I	NM_018460.3	NP_060930.3	1	3	4	2.004602	Q53QZ3	RHG15_HUMAN		3	340	+			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	1	1	hg19	c.173G>T	CCDS2184.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612348	0.87258	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08282	3.11	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.068772	0.64402	D	0.000014	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.71184	0.972;0.495	T	0.02064	-1.1220	10	0.27082	T	0.32	.	17.8083	0.88608	0.0:0.0:1.0:0.0	.	58;58	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	58	ENSP00000295095:R58I	ENSP00000295095:R58I	R	+	2	0	0	ARHGAP15	143676180	143676180	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.321000	0.72881	2.646000	0.89796	0.585000	0.79938	AGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	1	0	0		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_018460			57	57		237	235	1		1	0		0	0	96	0		1	9.980541e-01	0	0	0	42	0	57	237
ARHGAP15	55843	broad.mit.edu	37	2	143974006	143974006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000295095.6	+	4	455	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000409869.1_Silent_p.K96K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338																																						ENST00000295095.6	1.000000	0.840000	1	9.900000e-01	0.990000	0.989438	0.990000	1.000000																										0				34						c.(286-288)aaG>aaA		Rho GTPase activating protein 15							76.0	80.0	79.0					2																	143974006		2203	4300	6503	SO:0001819	synonymous_variant	55843	0	0					g.chr2:143974006G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.288G>A	chr2.hg19:g.143974006G>A		1					ARHGAP15_ENST00000409869.1_Silent_p.K96K	p.K96K	NM_018460.3	NP_060930.3	1	3	4	2.004602	Q53QZ3	RHG15_HUMAN		4	455	+			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	1	1	hg19	c.288G>A	CCDS2184.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_018460			23	23		219	219	0		1	0		0	0	64	0		9.999995e-01	8.900119e-01	0	0	0	39	0	23	219
GTDC1	79712	broad.mit.edu	37	2	144764985	144764985	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000409214.1_Silent_p.D213D|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	213					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423																																						ENST00000392869.2	1.000000	0.810000	1	9.800000e-01	0.990000	0.983360	0.990000	1.000000																										0				25						c.(637-639)gaT>gaC		glycosyltransferase-like domain containing 1							81.0	81.0	81.0					2																	144764985		2203	4300	6503	SO:0001819	synonymous_variant	79712	0	0					g.chr2:144764985A>G	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.639T>C	chr2.hg19:g.144764985A>G		1					GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000409214.1_Silent_p.D213D	p.D213D	NM_001284234.1	NP_001271163.1	1	3	4	2.004602	Q4AE62	GTDC1_HUMAN		6	791	-			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	1	1	hg19	c.639T>C	CCDS33300.1	1																																																																																								2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_024659			35	35		373	369	0		1	1		0	0	68	0		1	5.556388e-01	0	2	0	19	0	35	373
ZEB2	9839	broad.mit.edu	37	2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1175	Glu-rich (acidic).				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)			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)		CGTTTCGGGATCCGTATCCAT	0.493																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2	1.000000	0.870000	1	9.700000e-01	0.990000	0.987671	0.990000	1.000000																										0				107						c.(3523-3525)gAt>gGt		zinc finger E-box binding homeobox 2							245.0	229.0	234.0					2																	145147139		2203	4300	6503	SO:0001583	missense	9839	0	0					g.chr2:145147139T>C	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.3524A>G	chr2.hg19:g.145147139T>C	ENSP00000454157:p.Asp1175Gly	1					ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G	p.D1175G	NM_014795.3	NP_055610.1	1	3	4	2.004602	O60315	ZEB2_HUMAN		10	4708	-			A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	1	1	hg19	c.3524A>G	CCDS2186.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396880	0.83120	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15017	2.49;2.46;2.46	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.091701	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	B;B;B	0.20780	0.02;0.048;0.048	B;B;B	0.19946	0.027;0.012;0.012	T	0.10800	-1.0614	10	0.87932	D	0	-15.0669	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1151;1174;1175	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	G	1151;1175;1175	ENSP00000443792:D1151G;ENSP00000302501:D1175G;ENSP00000386854:D1175G	ENSP00000302501:D1175G	D	-	2	0	0	ZEB2	144863609	144863609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	GAT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1		2	2	2	0		0	0	180		180	178	1	2.060000	-19.949440	1	0.170000	NM_014795			96	93		1085	1060	0		1	0		0	0	180	0		1	9.999601e-01	0	0	0	159	0	96	1085
ZEB2	9839	broad.mit.edu	37	2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	921					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)			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)		GGGTATGGTCGTAGCCCAGGA	0.498																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.993198	0.990000	1.000000																										0				107	GRCh37	CM052018	ZEB2	M		c.(2761-2763)Cga>Tga		zinc finger E-box binding homeobox 2							164.0	160.0	161.0					2																	145155993		2203	4300	6503	SO:0001587	stop_gained	9839	0	0					g.chr2:145155993G>A	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.2761C>T	chr2.hg19:g.145155993G>A	ENSP00000454157:p.Arg921*	1					ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*	p.R921*	NM_014795.3	NP_055610.1	1	3	4	2.004602	O60315	ZEB2_HUMAN		8	3945	-			A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	0	1	hg19	c.2761C>T	CCDS2186.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.517277	0.98332	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.83	4.91	0.64330	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6124	15.7551	0.78018	0.0:0.0:0.863:0.137	.	.	.	.	X	897;921;921	.	ENSP00000302501:R921X	R	-	1	2	2	ZEB2	144872463	144872463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.499000	0.53310	2.763000	0.94921	0.563000	0.77884	CGA	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1		2	2	2	0		0	0	168		168	166	1	2.060000	-15.020920	1	0.170000	NM_014795			58	57		602	594	0		1	0		0	0	168	0		1	9.998947e-01	0	0	0	138	0	58	602
ZEB2	9839	broad.mit.edu	37	2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	615					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)			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)		TCATGAGGCTGCAGGACCGCC	0.443																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107	GRCh37	CM072129	ZEB2	M		c.(1843-1845)Cag>Tag		zinc finger E-box binding homeobox 2							97.0	98.0	98.0					2																	145156911		2203	4300	6503	SO:0001587	stop_gained	9839	0	0					g.chr2:145156911G>A	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.1843C>T	chr2.hg19:g.145156911G>A	ENSP00000454157:p.Gln615*	1					ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*	p.Q615*	NM_014795.3	NP_055610.1	1	3	4	2.004602	O60315	ZEB2_HUMAN		8	3027	-			A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	0	1	hg19	c.1843C>T	CCDS2186.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.082755	0.94050	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.048076	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.9462	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	591;615;615;615	.	ENSP00000302501:Q615X	Q	-	1	0	0	ZEB2	144873381	144873381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.872000	0.87187	2.705000	0.92388	0.655000	0.94253	CAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_014795			117	117		244	241	1		1	0		0	0	92	0		1	1	0	0	0	124	0	117	244
ZEB2	9839	broad.mit.edu	37	2	145161567	145161567	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F|ZEB2_ENST00000409487.3_Silent_p.F241F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	241					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)			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)		GAGGGCAGGAAAAGTTCTCTT	0.562																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999771	0.990000	1.000000																										0				107						c.(721-723)ttT>ttC		zinc finger E-box binding homeobox 2							250.0	239.0	243.0					2																	145161567		2203	4300	6503	SO:0001819	synonymous_variant	9839	0	0					g.chr2:145161567A>G	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.723T>C	chr2.hg19:g.145161567A>G		1					ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	p.F241F	NM_014795.3	NP_055610.1	1	3	4	2.004602	O60315	ZEB2_HUMAN		6	1907	-			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	1	1	hg19	c.723T>C	CCDS2186.1	1	.	.	.	.	.	.	.	.	.	.	A	6.344	0.431506	0.12045	.	.	ENSG00000169554	ENST00000419938	T	0.32988	1.43	5.65	2.05	0.26809	5.65	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.72032	D	0.01	-9.4435	8.6271	0.33897	0.6345:0.0:0.3655:0.0	.	.	.	.	S	130	ENSP00000394777:F130S	ENSP00000394777:F130S	F	-	2	0	0	ZEB2	144878037	144878037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.639000	0.37176	0.118000	0.18165	0.533000	0.62120	TTT	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1		2	2	2	0		0	0	150		150	145	1	2.060000	-20.000000	1	0.170000	NM_014795			69	66		603	582	1		1	0		0	0	150	0		1	9.974017e-01	0	0	0	79	0	69	603
TPO	7173	broad.mit.edu	37	2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	189					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)			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)	CAGTCAGCCCCGAGGCTGGAA	0.602																																						ENST00000345913.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(565-567)Cga>Tga		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)						50.0	55.0	53.0					2																	1457548		2203	4300	6503	SO:0001587	stop_gained	7173	0	0					g.chr2:1457548C>T		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.565C>T	chr2.hg19:g.1457548C>T	ENSP00000318820:p.Arg189*	1					TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*	p.R189*	NM_000547.5	NP_000538.3	1	2	3	2.183349	P07202	PERT_HUMAN		6	656	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	ENST00000345913.4	0	1	hg19	c.565C>T	CCDS1643.1	1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537771	0.65085	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-4.71	0.03279	5.27	-4.71	0.03279	.	0.293852	0.35970	N	0.002873	.	.	.	.	.	.	0.42641	D	0.993417	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.4783	20.418	0.99029	0.2731:0.7269:0.0:0.0	.	.	.	.	X	189;189;189;189;189;189;189;118	.	ENSP00000329869:R189X	R	+	1	2	2	TPO	1436555	1436555	0.006000	0.16342	0.087000	0.20705	0.615000	0.37417	1.309000	0.33539	-1.228000	0.02568	-0.474000	0.04947	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	0	1		21	2	2	1		1	1	76		76	72	1	2.060000	-4.888124	1	0.170000	NM_000547			118	116		367	358	1		1			1	0	76	0		1	0	0	0	0	0	0	118	367
TPO	7173	broad.mit.edu	37	2	1459850	1459850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					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)			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)	CTACCCAGGTCCGGGAGGTGA	0.498																																						ENST00000345913.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(613-615)gtC>gtT		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)						84.0	62.0	70.0					2																	1459850		2203	4300	6503	SO:0001819	synonymous_variant	7173	1	121412	35				g.chr2:1459850C>T		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.615C>T	chr2.hg19:g.1459850C>T		1					TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V	p.V205V	NM_000547.5	NP_000538.3	1	2	3	2.183349	P07202	PERT_HUMAN		7	706	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	1	1	hg19	c.615C>T	CCDS1643.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_000547			42	41		113	108	1		1	0		0	0	18	0		1	3.035584e-01	0	1	0	3	0	42	113
FAM84A	151354	broad.mit.edu	37	2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617																																						ENST00000295092.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				10						c.(40-42)aGc>aTc		family with sequence similarity 84, member A							28.0	32.0	31.0					2																	14774144		2203	4300	6503	SO:0001583	missense	151354	0	0					g.chr2:14774144G>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.41G>T	chr2.hg19:g.14774144G>T	ENSP00000295092:p.Ser14Ile	1					FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I|AC011897.1_ENST00000581929.1_5'Flank	p.S14I	NM_145175.2	NP_660158.2	1	2	3	2.183349	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)	2	329	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	1	1	hg19	c.41G>T	CCDS1684.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242236	0.79912	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.04119	3.7;3.7	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.72032	D	0.01	-21.0837	17.3365	0.87282	0.0:0.0:1.0:0.0	.	14	Q96KN4	FA84A_HUMAN	I	14	ENSP00000295092:S14I;ENSP00000330681:S14I	ENSP00000295092:S14I	S	+	2	0	0	FAM84A	14691595	14691595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.900000	0.63252	2.369000	0.80426	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_145175			26	26		156	155	1		1	1		0	0	44	0		1	9.987320e-01	0	11	0	55	0	26	156
FAM84A	151354	broad.mit.edu	37	2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706																																						ENST00000295092.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				10						c.(349-351)Cca>Aca		family with sequence similarity 84, member A							7.0	9.0	8.0					2																	14774452		2143	4188	6331	SO:0001583	missense	151354	0	0					g.chr2:14774452C>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.349C>A	chr2.hg19:g.14774452C>A	ENSP00000295092:p.Pro117Thr	1					FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T|AC011897.1_ENST00000581929.1_5'Flank	p.P117T	NM_145175.2	NP_660158.2	1	2	3	2.183349	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)	2	637	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	1	1	hg19	c.349C>A	CCDS1684.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745272|3.745272	0.69418|0.69418	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03635	.|3.86;3.86	4.96|4.96	4.96|4.96	0.65561|0.65561	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.43152|0.43152	1.355|1.355	0.39240|0.39240	D|D	0.963845|0.963845	.|P	.|0.49447	.|0.924	.|P	.|0.49597	.|0.616	T|T	0.16689|0.16689	-1.0394|-1.0394	6|10	0.87932|0.52906	D|T	0|0.07	-20.9794|-20.9794	11.112|11.112	0.48239|0.48239	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|117	.|Q96KN4	.|FA84A_HUMAN	D|T	24|117	.|ENSP00000295092:P117T;ENSP00000330681:P117T	ENSP00000443261:A24D|ENSP00000295092:P117T	A|P	+|+	2|1	0|0	0|0	FAM84A|FAM84A	14691903|14691903	14691903|14691903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.210000|3.210000	0.51129|0.51129	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GCC|CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_145175			18	18		67	66	0		1	1		0	0	16	0		9.999909e-01	9.972170e-01	0	7	0	33	0	18	67
FAM84A	151354	broad.mit.edu	37	2	14774697	14774697	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	ENST00000295092.2	+	2	882	c.594C>T	c.(592-594)ggC>ggT	p.G198G	FAM84A_ENST00000331243.4_Silent_p.G198G|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	198										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGCCTGCGGCCACCTGGGCC	0.687																																						ENST00000295092.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(592-594)ggC>ggT		family with sequence similarity 84, member A							11.0	13.0	12.0					2																	14774697		2187	4273	6460	SO:0001819	synonymous_variant	151354	0	0					g.chr2:14774697C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.594C>T	chr2.hg19:g.14774697C>T		1					FAM84A_ENST00000331243.4_Silent_p.G198G|AC011897.1_ENST00000581929.1_5'Flank	p.G198G	NM_145175.2	NP_660158.2	1	2	3	2.183349	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)	2	882	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	0	1	hg19	c.594C>T	CCDS1684.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_145175			14	13		30	29	0		1	1		0	0	12	0		9.998723e-01	9.998470e-01	0	14	0	27	0	14	30
FAM84A	151354	broad.mit.edu	37	2	14774877	14774877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	FAM84A_ENST00000331243.4_Silent_p.R258R|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657																																						ENST00000295092.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(772-774)agG>agA		family with sequence similarity 84, member A							38.0	38.0	38.0					2																	14774877		2203	4300	6503	SO:0001819	synonymous_variant	151354	0	0					g.chr2:14774877G>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.774G>A	chr2.hg19:g.14774877G>A		1					FAM84A_ENST00000331243.4_Silent_p.R258R|AC011897.1_ENST00000581929.1_5'Flank	p.R258R	NM_145175.2	NP_660158.2	1	2	3	2.183349	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)	2	1062	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	1	1	hg19	c.774G>A	CCDS1684.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.364511|1.364511	0.24684|0.24684	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000359969	.|.	.|.	.|.	4.14|4.14	1.01|1.01	0.19927|0.19927	4.14|4.14	1.01|1.01	0.19927|0.19927	.|.	.|0.561393	.|0.18805	.|N	.|0.130682	.|T	.|0.48519	.|0.1504	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|6	.|0.10377	.|T	.|0.69	.|-3.1899	13.8597|13.8597	0.63552|0.63552	0.0:0.4444:0.5556:0.0|0.0:0.4444:0.5556:0.0	.|.	.|.	.|.	.|.	.|D	-1|203	.|.	.|ENSP00000353054:G203D	.|G	+|+	.|2	.|0	.|0	FAM84A|FAM84A	14692328|14692328	14692328|14692328	0.982000|0.982000	0.34865|0.34865	0.964000|0.964000	0.40570|0.40570	0.994000|0.994000	0.84299|0.84299	0.211000|0.211000	0.17474|0.17474	0.073000|0.073000	0.16731|0.16731	0.455000|0.455000	0.32223|0.32223	.|GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_145175			58	57		134	132	1		1	1		0	0	26	0		1	1	0	36	0	30	0	58	134
ZEB2	9839	broad.mit.edu	37	2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	43					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)			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)		ATATGAAGCTTGTCTTCCTCA	0.488																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(127-129)Aag>Gag		zinc finger E-box binding homeobox 2							132.0	101.0	111.0					2																	145187540		2203	4300	6503	SO:0001583	missense	9839	0	0					g.chr2:145187540T>C	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.127A>G	chr2.hg19:g.145187540T>C	ENSP00000454157:p.Lys43Glu	1					ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	p.K43E	NM_014795.3	NP_055610.1	1	3	4	2.004602	O60315	ZEB2_HUMAN		3	1311	-			A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	1	1	hg19	c.127A>G	CCDS2186.1	1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766447	0.69878	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	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	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.047892	0.85682	D	0.000000	D	0.92512	0.7622	M	0.70595	2.14	0.58432	D	0.999999	P;P;D;B;B	0.67145	0.804;0.622;0.996;0.39;0.39	B;B;P;B;B	0.55923	0.213;0.152;0.787;0.074;0.074	D	0.93282	0.6661	10	0.87932	D	0	-15.9296	16.3291	0.83001	0.0:0.0:0.0:1.0	.	43;43;43;43;43	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	E	38;43;43;43;43;43;43;43;43	ENSP00000443792:K43E;ENSP00000302501:K43E;ENSP00000386854:K43E;ENSP00000395496:K43E;ENSP00000376601:K43E;ENSP00000387256:K43E;ENSP00000400993:K43E;ENSP00000399451:K43E	ENSP00000302501:K43E	K	-	1	0	0	ZEB2	144904010	144904010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.586000	0.82596	2.257000	0.74773	0.528000	0.53228	AAG	2.514430e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_014795			99	97		245	238	1		1	0		0	0	73	0		1	1	0	0	0	82	0	99	245
ACVR2A	92	broad.mit.edu	37	2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N|ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N	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	386	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)			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)		TTTGAGGATAGATATGTATGC	0.398																																						ENST00000241416.7	0.570000	0.290000	5.000000e-01	3.500000e-01	0.410000	0.429162	0.410000	0.420000																										0				45						c.(1156-1158)Gat>Aat		activin A receptor, type IIA							183.0	189.0	187.0					2																	148680620		2203	4300	6503	SO:0001583	missense	92	0	0					g.chr2:148680620G>A		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.1156G>A	chr2.hg19:g.148680620G>A	ENSP00000241416:p.Asp386Asn	1					ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N|ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N	p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	1	2	3	2.176613	P27037	AVR2A_HUMAN		9	1792	+			B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	1	1	hg19	c.1156G>A	CCDS33301.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.804209	0.96967	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.99394	-5.82;-5.82;-5.82	5.65	5.65	0.86999	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97380	0.9982	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	386	P27037	AVR2A_HUMAN	N	386;278;386	ENSP00000241416:D386N;ENSP00000439988:D278N;ENSP00000384338:D386N	ENSP00000241416:D386N	D	+	1	0	0	ACVR2A	148397090	148397090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	0	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-3.292434	1	0.170000	NM_001616			33	33		973	958	0		1	0	1	0	0	189	722		1	4.136054e-01	1	1	21	41	873	33	973
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	G	A	rs572893308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994					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.A994A(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)		ATCTCCAGGCGTTCCAAGGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16638	0.0		0.0	False		,,,				2504	0.0					ENST00000407073.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A994A(1)	large_intestine(1)	62						c.(2980-2982)gcG>gcA		methyl-CpG binding domain protein 5							116.0	119.0	118.0					2																	149243447		2203	4300	6503	SO:0001819	synonymous_variant	55777	4	121412	38				g.chr2:149243447G>A	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.2982G>A	chr2.hg19:g.149243447G>A		1					MBD5_ENST00000404807.1_Silent_p.A1227A	p.A994A	NM_018328.4	NP_060798.2	1	2	3	2.176613	Q9P267	MBD5_HUMAN		11	3979	+			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	1	1	hg19	c.2982G>A	CCDS33302.1	1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	0	MBD5	148959917	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-5.237775	1	0.170000				110	108		340	327	1		1	1		0	0	106	0		1	9.985808e-01	0	14	0	19	0	110	340
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142					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.A1142V(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)		GCTGTCAGTGCGGTCATTCAT	0.502																																						ENST00000407073.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A1142V(1)	large_intestine(1)	62						c.(3424-3426)gCg>gTg		methyl-CpG binding domain protein 5							89.0	89.0	89.0					2																	149247325		2203	4300	6503	SO:0001583	missense	55777	1	121412	32				g.chr2:149247325C>T	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.3425C>T	chr2.hg19:g.149247325C>T	ENSP00000386049:p.Ala1142Val	1					MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	p.A1142V	NM_018328.4	NP_060798.2	1	2	3	2.176613	Q9P267	MBD5_HUMAN		12	4422	+			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	1	1	hg19	c.3425C>T	CCDS33302.1	1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	0	MBD5	148963795	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-7.649016	1	0.170000				113	112		288	283	1		1	0		0	0	72	0		1	9.706507e-01	0	1	0	16	0	113	288
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			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)		ATTAGTAAGAGAAGACGACGT	0.403																																						ENST00000407073.1	1.000000	0.690000	1	8.300000e-01	0.990000	0.937442	0.990000	1.000000																										0				62						c.(4216-4218)Gaa>Taa		methyl-CpG binding domain protein 5							75.0	73.0	74.0					2																	149248116		2203	4300	6503	SO:0001587	stop_gained	55777	0	0					g.chr2:149248116G>T	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.4216G>T	chr2.hg19:g.149248116G>T	ENSP00000386049:p.Glu1406*	1					MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	p.E1406*	NM_018328.4	NP_060798.2	1	2	3	2.176613	Q9P267	MBD5_HUMAN		12	5213	+			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	0	1	hg19	c.4216G>T	CCDS33302.1	1	.	.	.	.	.	.	.	.	.	.	G	50	17.259051	0.99882	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1406;1639	.	ENSP00000384672:E1639X	E	+	1	0	0	MBD5	148964586	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000				30	30		355	345	0		1	0		0	0	85	0		1	5.048950e-01	0	0	0	21	0	30	355
MBD5	55777	broad.mit.edu	37	2	149248121	149248121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1407	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			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)		TAAGAGAAGACGACGTTCACA	0.408																																						ENST00000407073.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(4219-4221)gaC>gaT		methyl-CpG binding domain protein 5							76.0	74.0	74.0					2																	149248121		2203	4300	6503	SO:0001819	synonymous_variant	55777	2	121412	31				g.chr2:149248121C>T	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.4221C>T	chr2.hg19:g.149248121C>T		1					MBD5_ENST00000404807.1_Silent_p.D1640D	p.D1407D	NM_018328.4	NP_060798.2	1	2	3	2.176613	Q9P267	MBD5_HUMAN		12	5218	+			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	1	1	hg19	c.4221C>T	CCDS33302.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	0		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000				110	109		273	264	1		1	1		0	0	84	0		1	9.934099e-01	0	4	0	18	0	110	273
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	257					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343																																						ENST00000258484.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				13						c.(769-771)Aca>Gca		enhancer of polycomb homolog 2 (Drosophila)							79.0	73.0	75.0					2																	149519453		1825	4078	5903	SO:0001583	missense	26122	0	0					g.chr2:149519453A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.769A>G	chr2.hg19:g.149519453A>G	ENSP00000258484:p.Thr257Ala	1						p.T257A	NM_015630.3	NP_056445.3	1	2	3	2.176613	Q52LR7	EPC2_HUMAN		5	803	+			B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	1	1	hg19	c.769A>G	CCDS46422.1	1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328373	0.60743	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.115719	0.56097	D	0.000030	T	0.45438	0.1342	N	0.26042	0.785	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34775	-0.9815	9	0.30854	T	0.27	-4.0144	15.7881	0.78326	1.0:0.0:0.0:0.0	.	257	Q52LR7	EPC2_HUMAN	A	257	.	ENSP00000258484:T257A	T	+	1	0	0	EPC2	149235923	149235923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.309000	0.59135	2.137000	0.66172	0.482000	0.46254	ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-12.599580	1	0.170000	NM_015630			16	16		62	60	1		1	1		0	0	23	0		9.999574e-01	9.999525e-01	0	21	0	54	0	16	62
EPC2	26122	broad.mit.edu	37	2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	560					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373																																						ENST00000258484.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1678-1680)Gca>Aca		enhancer of polycomb homolog 2 (Drosophila)							130.0	125.0	126.0					2																	149528914		1881	4100	5981	SO:0001583	missense	26122	0	0					g.chr2:149528914G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1678G>A	chr2.hg19:g.149528914G>A	ENSP00000258484:p.Ala560Thr	1						p.A560T	NM_015630.3	NP_056445.3	1	2	3	2.176613	Q52LR7	EPC2_HUMAN		10	1712	+			B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	1	1	hg19	c.1678G>A	CCDS46422.1	1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000135999	ENST00000258484	T	0.20598	2.06	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.125508	0.52532	D	0.000061	T	0.10766	0.0263	N	0.03608	-0.345	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.21143	-1.0254	10	0.30854	T	0.27	-4.3089	14.1134	0.65137	0.0:0.1499:0.8501:0.0	.	560	Q52LR7	EPC2_HUMAN	T	560	ENSP00000258484:A560T	ENSP00000258484:A560T	A	+	1	0	0	EPC2	149245384	149245384	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.340000	0.52143	2.646000	0.89796	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	0		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_015630			108	108		504	498	1		1	1		0	0	128	0		1	9.999916e-01	0	10	0	69	0	108	504
TPO	7173	broad.mit.edu	37	2	1497599	1497599	+	Silent	SNP	C	C	T	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000337415.3_Silent_p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	598					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)			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)	GGGAGTTCTGCGGCCTGCCTC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4	1.000000	0.460000	1	6.300000e-01	0.840000	0.823368	0.840000	1.000000																										0				95						c.(1792-1794)tgC>tgT		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	,,,,,	22,4384	29.9+/-59.1	1,20,2182	51.0	47.0	49.0		1794,1794,1623,1623,1794,1275	-6.8	0.0	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	1,20,6482	TT,TC,CC		0.0,0.4993,0.1692	,,,,,	598/934,598/934,541/877,541/877,598/890,425/761	1497599	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	7173	0	0					g.chr2:1497599C>T		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.1794C>T	chr2.hg19:g.1497599C>T		1					TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C	p.C598C	NM_000547.5	NP_000538.3	1	2	3	2.183349	P07202	PERT_HUMAN		11	1885	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	1	1	hg19	c.1794C>T	CCDS1643.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.275	-0.990244	0.02162	0.004993	0.0	ENSG00000115705	ENST00000446278	.	.	.	4.84	-6.83	0.01693	4.84	-6.83	0.01693	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-32.4367	16.0715	0.80940	0.0:0.2598:0.0:0.7402	.	.	.	.	V	73	.	.	A	+	2	0	0	TPO	1476606	1476606	0.956000	0.32656	0.002000	0.10522	0.008000	0.06430	0.013000	0.13310	-1.368000	0.02149	-1.300000	0.01332	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-10.107080	1	0.170000	NM_000547			12	12		174	172	0		1	0		0	0	40	0		9.991595e-01	5.122143e-03	0	0	0	2	0	12	174
EPC2	26122	broad.mit.edu	37	2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	563					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368																																						ENST00000258484.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1687-1689)gCt>gTt		enhancer of polycomb homolog 2 (Drosophila)							127.0	121.0	123.0					2																	149528924		1870	4098	5968	SO:0001583	missense	26122	0	0					g.chr2:149528924C>T	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1688C>T	chr2.hg19:g.149528924C>T	ENSP00000258484:p.Ala563Val	1						p.A563V	NM_015630.3	NP_056445.3	1	2	3	2.176613	Q52LR7	EPC2_HUMAN		10	1722	+			B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	1	1	hg19	c.1688C>T	CCDS46422.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055286	0.55325	.	.	ENSG00000135999	ENST00000258484	T	0.17054	2.3	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.178765	0.49305	D	0.000151	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.25257	-1.0137	10	0.28530	T	0.3	-3.0814	19.4043	0.94642	0.0:1.0:0.0:0.0	.	563	Q52LR7	EPC2_HUMAN	V	563	ENSP00000258484:A563V	ENSP00000258484:A563V	A	+	2	0	0	EPC2	149245394	149245394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.161000	0.58170	2.646000	0.89796	0.563000	0.77884	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	0		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_015630			87	84		514	509	1		1	1		0	0	122	0		1	9.998756e-01	0	10	0	68	0	87	514
RND3	390	broad.mit.edu	37	2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000263895.4_Missense_Mutation_p.A172T|RND3_ENST00000472416.1_5'Flank	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	172					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)			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)		ATATAAGTAGCTGCTCCAATC	0.403																																						ENST00000375734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(514-516)Gct>Act		Rho family GTPase 3							91.0	86.0	88.0					2																	151326722		2203	4300	6503	SO:0001583	missense	390	0	0					g.chr2:151326722C>T		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.514G>A	chr2.hg19:g.151326722C>T	ENSP00000364886:p.Ala172Thr	1					RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000263895.4_Missense_Mutation_p.A172T	p.A172T	NM_001254738.1	NP_001241667.1	1	2	3	2.176613	P61587	RND3_HUMAN		5	763	-			D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	1	1	hg19	c.514G>A	CCDS2190.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952131	0.73787	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	N	0.12853	0.265	0.80722	D	1	D;D;D	0.60575	0.988;0.976;0.976	D;P;P	0.73708	0.981;0.625;0.697	T	0.83249	-0.0054	10	0.66056	D	0.02	-3.7331	19.0713	0.93138	0.0:1.0:0.0:0.0	.	35;171;172	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	172;172;43	ENSP00000364886:A172T;ENSP00000263895:A172T;ENSP00000386576:A43T	ENSP00000263895:A172T	A	-	1	0	0	RND3	151034968	151034968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.751000	0.94390	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_005168			109	107		304	299	1		1	1		0	0	61	0		1	1	0	36	0	111	0	109	304
RIF1	55183	broad.mit.edu	37	2	152298469	152298469	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.5	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Silent_p.S566S			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)			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)		TATTAGGTTCACCAGCATATC	0.299																																						ENST00000243326.5	0.640000	0.130000	4.900000e-01	2.200000e-01	0.330000	0.359821	0.330000	0.310000																										0				97						c.(1696-1698)tcA>tcG		replication timing regulatory factor 1							60.0	62.0	61.0					2																	152298469		2202	4286	6488	SO:0001819	synonymous_variant	55183	0	0					g.chr2:152298469A>G	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.1698A>G	chr2.hg19:g.152298469A>G		1					RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000428287.2_Silent_p.S566S	p.S566S			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		15	2181	+			A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	1	1	hg19	c.1698A>G	CCDS2194.1	0	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033723	0.19590	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.4	1.14	0.20703	5.4	1.14	0.20703	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-12.2918	6.4219	0.21748	0.5636:0.0:0.0744:0.362	.	.	.	.	A	558	.	.	T	+	1	0	0	RIF1	152006715	152006715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.265000	0.33027	0.361000	0.24292	0.528000	0.53228	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.142937	1	0.170000				6	6		237	233	0		1	1		0	0	64	0		9.636937e-01	4.584839e-01	0	2	0	54	0	6	237
RIF1	55183	broad.mit.edu	37	2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y			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)			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)		TCTTTGCCTTCTATGATCCGA	0.358																																						ENST00000243326.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(2545-2547)tCt>tAt		replication timing regulatory factor 1							113.0	111.0	112.0					2																	152311610		2203	4300	6503	SO:0001583	missense	55183	1	121412	34				g.chr2:152311610C>A	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.2546C>A	chr2.hg19:g.152311610C>A	ENSP00000243326:p.Ser849Tyr	1					RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y	p.S849Y			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		21	3029	+			A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	1	1	hg19	c.2546C>A	CCDS2194.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861107|3.861107	0.71949|0.71949	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.55|5.55	4.68|4.68	0.58851|0.58851	5.55|5.55	4.68|4.68	0.58851|0.58851	.|.	.|0.189056	.|0.46758	.|D	.|0.000273	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.81998|0.81998	-0.0675|-0.0675	5|10	.|0.72032	.|D	.|0.01	-5.8134|-5.8134	14.3304|14.3304	0.66553|0.66553	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|849;849	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	L|Y	840|849	.|ENSP00000390181:S849Y;ENSP00000414615:S849Y;ENSP00000415691:S849Y;ENSP00000243326:S849Y;ENSP00000416123:S849Y	.|ENSP00000243326:S849Y	F|S	+|+	3|2	2|0	2|0	RIF1|RIF1	152019856|152019856	152019856|152019856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.074000|3.074000	0.50065|0.50065	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	TTC|TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				117	116		523	517	1		1	1		0	0	103	0		1	9.998314e-01	0	12	0	46	0	117	523
RIF1	55183	broad.mit.edu	37	2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A			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)			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)		GATCAAATGGTAAATGAGGAT	0.378																																						ENST00000243326.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(4195-4197)gTa>gCa		replication timing regulatory factor 1							88.0	92.0	91.0					2																	152320230		2203	4300	6503	SO:0001583	missense	55183	0	0					g.chr2:152320230T>C	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.4196T>C	chr2.hg19:g.152320230T>C	ENSP00000243326:p.Val1399Ala	1					RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A	p.V1399A			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		29	4679	+			A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	1	1	hg19	c.4196T>C	CCDS2194.1	1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.071927	0.08436	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.31	2.89	0.33648	5.31	2.89	0.33648	.	1.118960	0.06579	N	0.749939	T	0.26304	0.0642	L	0.56769	1.78	0.09310	N	1	B;B	0.26081	0.087;0.141	B;B	0.24006	0.022;0.05	T	0.33624	-0.9861	10	0.17832	T	0.49	-4.3188	2.2769	0.04104	0.1508:0.1075:0.1553:0.5865	.	1399;1399	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1399	ENSP00000390181:V1399A;ENSP00000414615:V1399A;ENSP00000415691:V1399A;ENSP00000243326:V1399A;ENSP00000416123:V1399A	ENSP00000243326:V1399A	V	+	2	0	0	RIF1	152028476	152028476	0.001000	0.12720	0.841000	0.33234	0.287000	0.27160	0.326000	0.19646	0.820000	0.34516	0.455000	0.32223	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000				142	140		408	403	1		1	1		0	0	117	0		1	9.999999e-01	0	24	0	43	0	142	408
RIF1	55183	broad.mit.edu	37	2	152321120	152321120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.5	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*			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)			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)		TAGTTTGGGAGAATCCTCAAA	0.368																																						ENST00000243326.5	0.730000	0.220000	5.900000e-01	3.200000e-01	0.440000	0.459859	0.440000	0.420000																										0				97						c.(5086-5088)Gaa>Taa		replication timing regulatory factor 1							39.0	42.0	41.0					2																	152321120		2202	4298	6500	SO:0001587	stop_gained	55183	0	0					g.chr2:152321120G>T	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.5086G>T	chr2.hg19:g.152321120G>T	ENSP00000243326:p.Glu1696*	1					RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*	p.E1696*			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		29	5569	+			A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	0	1	hg19	c.5086G>T	CCDS2194.1	0	.	.	.	.	.	.	.	.	.	.	G	42	9.372762	0.99151	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.650546	0.15593	N	0.254318	.	.	.	.	.	.	0.47949	D	0.999554	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.6011	14.4579	0.67428	0.0:0.0:0.8522:0.1478	.	.	.	.	X	1696	.	ENSP00000243326:E1696X	E	+	1	0	0	RIF1	152029366	152029366	0.915000	0.31059	0.025000	0.17156	0.091000	0.18340	2.565000	0.45939	2.581000	0.87130	0.557000	0.71058	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-11.093100	1	0.170000				10	10		290	285	0		1	0		0	0	50	0		9.967447e-01	7.622969e-01	0	1	0	80	0	10	290
RIF1	55183	broad.mit.edu	37	2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M			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)			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)		TCTGAAGAAACGAATACCAAA	0.398																																						ENST00000243326.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				97						c.(6040-6042)aCg>aTg		replication timing regulatory factor 1							61.0	59.0	60.0					2																	152322075		2203	4300	6503	SO:0001583	missense	55183	4	121406	30				g.chr2:152322075C>T	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.6041C>T	chr2.hg19:g.152322075C>T	ENSP00000243326:p.Thr2014Met	1					RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M	p.T2014M			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		29	6524	+			A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	1	1	hg19	c.6041C>T	CCDS2194.1	1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159683	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.12	1.5	0.22942	5.12	1.5	0.22942	.	1.526730	0.03207	N	0.175587	T	0.03305	0.0096	N	0.01352	-0.895	0.18873	N	0.999982	B;B	0.15719	0.008;0.014	B;B	0.08055	0.001;0.003	T	0.34403	-0.9830	10	0.33940	T	0.23	0.8415	4.687	0.12762	0.0:0.1799:0.1638:0.6563	.	2014;2014	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	M	2014	ENSP00000390181:T2014M;ENSP00000414615:T2014M;ENSP00000415691:T2014M;ENSP00000243326:T2014M;ENSP00000416123:T2014M	ENSP00000243326:T2014M	T	+	2	0	0	RIF1	152030321	152030321	0.005000	0.15991	0.010000	0.14722	0.003000	0.03518	0.278000	0.18753	0.106000	0.17784	-0.312000	0.09012	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000				29	27		160	158	1		1	1		0	0	36	0		1	9.999283e-01	0	16	0	70	0	29	160
RIF1	55183	broad.mit.edu	37	2	152322115	152322115	+	Silent	SNP	C	C	T	rs189342229	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G			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)			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)		TGATGATCGGCGAGGCAATGG	0.418													T|||	9	0.00179712	0.0	0.0	5008	,	,		18646	0.0079		0.001	False		,,,				2504	0.0					ENST00000243326.5	0.930000	0.270000	7.400000e-01	3.900000e-01	0.540000	0.569963	0.540000	0.510000																										0				97						c.(6079-6081)ggC>ggT		replication timing regulatory factor 1		T	,,,	0,4406		0,0,2203	76.0	68.0	71.0		6081,6081,6081,6081	-4.9	0.0	2		71	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	2027/2447,2027/2447,2027/2447,2027/2473	152322115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55183	145	121412	49				g.chr2:152322115C>T	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.6081C>T	chr2.hg19:g.152322115C>T		1					RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G	p.G2027G			1	2	3	2.176613	Q9Y581	INSL6_HUMAN		29	6564	+			A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	1	1	hg19	c.6081C>T	CCDS2194.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	0		2	2	2	0		0	0	37		37	35	1	2.060000	-3.075119	1	0.170000				9	9		209	202	0		1	1		0	0	37	0		9.936195e-01	8.917199e-01	0	3	0	91	0	9	209
NEB	4703	broad.mit.edu	37	2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000172853.10	-	147	19810	c.19663C>T	c.(19663-19665)Cat>Tat	p.H6555Y	NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y			P20929	NEBU_HUMAN	nebulin	6555	Interaction with SVIL.				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)			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)		GCTTCTGAATGCTCAGACTTC	0.577																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				301						c.(19663-19665)Cat>Tat		nebulin							70.0	73.0	72.0					2																	152346952		2043	4202	6245	SO:0001583	missense	4703	0	0					g.chr2:152346952G>A	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.19663C>T	chr2.hg19:g.152346952G>A	ENSP00000172853:p.His6555Tyr	1					RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y	p.H6555Y			1	2	3	2.176613	P20929	NEBU_HUMAN		147	19810	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.19663C>T		1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318107	0.10845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.06768	3.4;3.45;3.45;3.26;3.4;4.01;4.19	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.299172	0.36338	N	0.002656	T	0.10078	0.0247	L	0.34521	1.04	0.32086	N	0.592536	P;P;P;D;B;B	0.56521	0.608;0.586;0.459;0.976;0.09;0.002	B;B;B;P;B;B	0.45232	0.099;0.332;0.162;0.474;0.023;0.015	T	0.09618	-1.0666	10	0.20519	T	0.43	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	324;386;324;6555;2893;8411	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	Y	6555;8411;8411;2511;2893;6555;386;324	ENSP00000386259:H6555Y;ENSP00000380505:H8411Y;ENSP00000416578:H8411Y;ENSP00000410961:H2893Y;ENSP00000172853:H6555Y;ENSP00000380497:H386Y;ENSP00000427083:H324Y	ENSP00000172853:H6555Y	H	-	1	0	0	NEB	152055198	152055198	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.396000	0.52565	2.526000	0.85167	0.462000	0.41574	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_004543			17	17		63	63	1		1	1		0	0	12	0		9.999836e-01	9.600099e-01	0	9	0	14	0	17	63
NEB	4703	broad.mit.edu	37	2	152352790	152352790	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000172853.10	-	140	19065	c.18918G>A	c.(18916-18918)tcG>tcA	p.S6306S	NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000498015.2_Intron|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000427231.2_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|NEB_ENST00000604864.1_Splice_Site_p.S8162S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000397336.2_Splice_Site_p.S137S			P20929	NEBU_HUMAN	nebulin	6306					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.S8162S(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)		CGCCAAGTACCGAGCTAATAT	0.333																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S8162S(1)	endometrium(1)	301						c.(18916-18918)tcG>tcA		nebulin							90.0	71.0	77.0					2																	152352790		1811	4074	5885	SO:0001630	splice_region_variant	4703	0	0					g.chr2:152352790C>T	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.18918+1G>A	chr2.hg19:g.152352790C>T		1					RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000427231.2_Splice_Site_p.S8162S|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Splice_Site_p.S8162S|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000397336.2_Splice_Site_p.S137S	p.S6306S			1	2	3	2.176613	P20929	NEBU_HUMAN		140	19065	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	1	0	hg19	c.18918G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339299|2.339299	0.41398|0.41398	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.74168|0.74168	0.3681|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73307|0.73307	-0.4024|-0.4024	4|4	.|.	.|.	.|.	.|.	18.2919|18.2919	0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|Q	308|296	.|.	.|.	G|R	-|-	1|2	0|0	0|0	NEB|NEB	152061036|152061036	152061036|152061036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.995000|6.995000	0.76257|0.76257	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GGT|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-4.141466	1	0.170000	NM_004543	Silent		30	29		95	94	1		1	1		0	0	13	0		1	6.102362e-02	0	2	0	0	0	30	95
NEB	4703	broad.mit.edu	37	2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000172853.10	-	134	18419	c.18272C>T	c.(18271-18273)tCc>tTc	p.S6091F	NEB_ENST00000397345.3_Missense_Mutation_p.S7792F|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000603639.1_Missense_Mutation_p.S7792F			P20929	NEBU_HUMAN	nebulin	6091					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)			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)		ATACGACATGGACTTCTCAGC	0.418																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				301						c.(18271-18273)tCc>tTc		nebulin							131.0	112.0	118.0					2																	152364595		1848	4094	5942	SO:0001583	missense	4703	0	0					g.chr2:152364595G>A	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.18272C>T	chr2.hg19:g.152364595G>A	ENSP00000172853:p.Ser6091Phe	1					NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F	p.S6091F			1	2	3	2.176613	P20929	NEBU_HUMAN		134	18419	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.18272C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178357|3.178357	0.57692|0.57692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78	5.35|5.35	0.993|0.993	0.19825|0.19825	5.35|5.35	0.993|0.993	0.19825|0.19825	.|.	.|0.510406	.|0.20688	.|N	.|0.087515	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53462	.|0.708;0.96;0.915	.|P;P;P	.|0.54965	.|0.723;0.708;0.765	T|T	0.42292|0.42292	-0.9460|-0.9460	5|10	.|0.23302	.|T	.|0.38	.|.	13.8688|13.8688	0.63605|0.63605	0.0:0.4829:0.4177:0.0994|0.0:0.4829:0.4177:0.0994	.|.	.|6091;7792;2522	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	378|6091;7792;7792;2140;2522;6091	.|ENSP00000386259:S6091F;ENSP00000380505:S7792F;ENSP00000416578:S7792F;ENSP00000410961:S2522F;ENSP00000172853:S6091F	.|ENSP00000172853:S6091F	P|S	-|-	1|2	0|0	0|0	NEB|NEB	152072841|152072841	152072841|152072841	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.737000|1.737000	0.38197|0.38197	0.256000|0.256000	0.21614|0.21614	0.655000|0.655000	0.94253|0.94253	CCA|TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_004543			17	16		60	58	1		1	1		0	0	23	0		9.999774e-01	7.343561e-01	0	6	0	5	0	17	60
NEB	4703	broad.mit.edu	37	2	152381050	152381050	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152381050C>A	ENST00000172853.10	-	124	17397	c.17250G>T	c.(17248-17250)caG>caT	p.Q5750H	NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H			P20929	NEBU_HUMAN	nebulin	5750					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)			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)		GTTTGGCTGCCTGTGTGGCCT	0.512																																						ENST00000172853.10	0.540000	0.270000	4.700000e-01	3.200000e-01	0.390000	0.403618	0.390000	0.390000																										0				301						c.(17248-17250)caG>caT		nebulin							203.0	204.0	204.0					2																	152381050		2020	4203	6223	SO:0001583	missense	4703	0	0					g.chr2:152381050C>A	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.17250G>T	chr2.hg19:g.152381050C>A	ENSP00000172853:p.Gln5750His	1					NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H	p.Q5750H			1	2	3	2.176613	P20929	NEBU_HUMAN		124	17397	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	0	1	hg19	c.17250G>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404807|2.404807	0.42613|0.42613	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.47869|.	0.83;1.43;1.43;0.83;0.83|.	5.64|5.64	2.72|2.72	0.32119|0.32119	5.64|5.64	2.72|2.72	0.32119|0.32119	.|.	0.106358|.	0.64402|.	D|.	0.000003|.	T|T	0.48021|0.48021	0.1477|0.1477	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31383|.	0.006;0.018;0.321|.	B;B;B|.	0.25506|.	0.053;0.043;0.061|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.46703|.	T|.	0.11|.	.|.	3.5627|3.5627	0.07888|0.07888	0.1205:0.5605:0.1175:0.2014|0.1205:0.5605:0.1175:0.2014	.|.	5750;7451;2181|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|M	5750;7451;7451;1799;2181;5750|74	ENSP00000386259:Q5750H;ENSP00000380505:Q7451H;ENSP00000416578:Q7451H;ENSP00000410961:Q2181H;ENSP00000172853:Q5750H|.	ENSP00000172853:Q5750H|.	Q|R	-|-	3|2	2|0	2|0	NEB|NEB	152089296|152089296	152089296|152089296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.995000|0.995000	0.29706|0.29706	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CAG|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-2.724481	1	0.170000	NM_004543			33	30		1037	996	0		1	1		0	0	149	0		1	9.100107e-02	0	4	0	12	0	33	1037
NEB	4703	broad.mit.edu	37	2	152419185	152419185	+	Silent	SNP	C	C	T	rs368876425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000172853.10	-	92	13875	c.13728G>A	c.(13726-13728)acG>acA	p.T4576T	NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000427231.2_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000603639.1_Silent_p.T6277T			P20929	NEBU_HUMAN	nebulin	4576					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)			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)		CCAGAAGAGACGTCCACTGGT	0.483																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999053	0.990000	1.000000																										0				301						c.(13726-13728)acG>acA		nebulin		C	,,	1,4051		0,1,2025	127.0	120.0	122.0		18831,18831,13728	-11.5	0.0	2		122	0,8330		0,0,4165	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6190	TT,TC,CC		0.0,0.0247,0.0081	,,	6277/8526,6277/8526,4576/6670	152419185	1,12381	2026	4165	6191	SO:0001819	synonymous_variant	4703	2	120848	35				g.chr2:152419185C>T	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.13728G>A	chr2.hg19:g.152419185C>T		1					NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000427231.2_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T	p.T4576T			1	2	3	2.176613	P20929	NEBU_HUMAN		92	13875	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	0	1	hg19	c.13728G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-9.768882	1	0.170000	NM_004543			13	13		72	70	1		1	0		0	0	12	0		9.996229e-01	4.325807e-01	0	0	0	9	0	13	72
NEB	4703	broad.mit.edu	37	2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000172853.10	-	77	11492	c.11345G>A	c.(11344-11346)aGc>aAc	p.S3782N	NEB_ENST00000397345.3_Missense_Mutation_p.S4025N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000603639.1_Missense_Mutation_p.S4025N			P20929	NEBU_HUMAN	nebulin	3782					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)			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)		ATCTTCAATGCTCTGGGCTCC	0.403																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(11344-11346)aGc>aAc		nebulin							142.0	132.0	135.0					2																	152466579		1907	4133	6040	SO:0001583	missense	4703	2	120838	37				g.chr2:152466579C>T	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.11345G>A	chr2.hg19:g.152466579C>T	ENSP00000172853:p.Ser3782Asn	1					NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N	p.S3782N			1	2	3	2.176613	P20929	NEBU_HUMAN		77	11492	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.11345G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791572	0.50102	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10099	3.05;2.98;2.91;3.06	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.136350	0.64402	D	0.000004	T	0.09949	0.0244	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.12293	-1.0553	10	0.33940	T	0.23	.	13.2308	0.59943	0.0:0.9171:0.0:0.0829	.	3782	P20929	NEBU_HUMAN	N	3782;4025;4025;3782	ENSP00000386259:S3782N;ENSP00000380505:S4025N;ENSP00000416578:S4025N;ENSP00000172853:S3782N	ENSP00000172853:S3782N	S	-	2	0	0	NEB	152174825	152174825	0.000000	0.05858	0.420000	0.26596	0.994000	0.84299	0.961000	0.29267	2.682000	0.91365	0.650000	0.86243	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_004543			49	49		212	208	1		1			0	0	37	0		1	0	0	0	0	0	0	49	212
NEB	4703	broad.mit.edu	37	2	152468847	152468847	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000172853.10	-	74	11076	c.10929C>T	c.(10927-10929)ggC>ggT	p.G3643G	NEB_ENST00000397345.3_Silent_p.G3886G|NEB_ENST00000427231.2_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000603639.1_Silent_p.G3886G			P20929	NEBU_HUMAN	nebulin	3643					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)			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)		CCTCTACAGAGCCAATGGGAA	0.438																																						ENST00000172853.10	1.000000	0.520000	1	6.800000e-01	0.870000	0.851899	0.870000	1.000000																										0				301						c.(10927-10929)ggC>ggT		nebulin							72.0	68.0	69.0					2																	152468847		1906	4140	6046	SO:0001819	synonymous_variant	4703	0	0					g.chr2:152468847G>A	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.10929C>T	chr2.hg19:g.152468847G>A		1					NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000427231.2_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000397345.3_Silent_p.G3886G	p.G3643G			1	2	3	2.176613	P20929	NEBU_HUMAN		74	11076	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	1	1	hg19	c.10929C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-19.642830	1	0.170000	NM_004543			16	15		221	220	0		1	0		0	0	54	0		9.999382e-01	0	0	0	0	1	0	16	221
NEB	4703	broad.mit.edu	37	2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000172853.10	-	73	10770	c.10623G>T	c.(10621-10623)aaG>aaT	p.K3541N	NEB_ENST00000397345.3_Missense_Mutation_p.K3784N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000603639.1_Missense_Mutation_p.K3784N			P20929	NEBU_HUMAN	nebulin	3541					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)			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)		TCGGGTCATCCTTAATGTTCC	0.458																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(10621-10623)aaG>aaT		nebulin							172.0	163.0	166.0					2																	152471039		1932	4133	6065	SO:0001583	missense	4703	0	0					g.chr2:152471039C>A	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.10623G>T	chr2.hg19:g.152471039C>A	ENSP00000172853:p.Lys3541Asn	1					NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N	p.K3541N			1	2	3	2.176613	P20929	NEBU_HUMAN		73	10770	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.10623G>T		1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043255	0.19748	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.41;3.4;3.38;3.41	5.78	-0.992	0.10232	5.78	-0.992	0.10232	.	0.799704	0.11944	N	0.514403	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	P	0.36412	0.552	B	0.28991	0.097	T	0.55296	-0.8163	10	0.18710	T	0.47	.	3.4418	0.07466	0.1104:0.5012:0.2146:0.1737	.	3541	P20929	NEBU_HUMAN	N	3541;3784;3784;3541	ENSP00000386259:K3541N;ENSP00000380505:K3784N;ENSP00000416578:K3784N;ENSP00000172853:K3541N	ENSP00000172853:K3541N	K	-	3	2	2	NEB	152179285	152179285	0.769000	0.28531	0.506000	0.27664	0.068000	0.16541	0.024000	0.13555	-0.084000	0.12595	0.655000	0.94253	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	212		212	210	1	2.060000	-13.102860	1	0.170000	NM_004543			300	296		767	756	1		1	0		0	0	212	0		1	0	0	0	0	1	0	300	767
NEB	4703	broad.mit.edu	37	2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T	rs373778424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000172853.10	-	49	6629	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000397345.3_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000603639.1_Missense_Mutation_p.R2161H			P20929	NEBU_HUMAN	nebulin	2161					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)			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)		ACTCTGTATGCGATTCATATT	0.453																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(6481-6483)cGc>cAc		nebulin		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4107		0,1,2053	370.0	360.0	364.0		6482,6482,6482	-7.7	0.6	2		364	0,8404		0,0,4202	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6255	TT,TC,CC		0.0,0.0243,0.0080	benign,benign,benign	2161/8526,2161/8526,2161/6670	152512680	1,12511	2054	4202	6256	SO:0001583	missense	4703	6	120992	45				g.chr2:152512680C>T	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.6482G>A	chr2.hg19:g.152512680C>T	ENSP00000172853:p.Arg2161His	1					NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H	p.R2161H			1	2	3	2.176613	P20929	NEBU_HUMAN		49	6629	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.6482G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830523	0.32329	2.43E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	-7.68	0.01268	5.83	-7.68	0.01268	.	0.892392	0.10007	N	0.727734	T	0.21550	0.0519	L	0.29908	0.895	0.38568	D	0.94988	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.40728	T	0.16	.	18.2037	0.89847	0.0:0.597:0.0:0.403	.	2161	P20929	NEBU_HUMAN	H	2161	ENSP00000386259:R2161H;ENSP00000380505:R2161H;ENSP00000416578:R2161H;ENSP00000172853:R2161H	ENSP00000172853:R2161H	R	-	2	0	0	NEB	152220926	152220926	0.000000	0.05858	0.578000	0.28575	0.954000	0.61252	-1.351000	0.02622	-1.394000	0.02077	-0.253000	0.11424	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		19	2	2	0		0	1	289		289	289	1	2.060000	-20.000000	1	0.170000	NM_004543			251	243		1381	1344	1		1			0	0	289	0		1	0	0	0	0	0	0	251	1381
NEB	4703	broad.mit.edu	37	2	152512810	152512810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512810C>T	ENST00000172853.10	-	49	6499	c.6352G>A	c.(6352-6354)Gac>Aac	p.D2118N	NEB_ENST00000397345.3_Missense_Mutation_p.D2118N|NEB_ENST00000427231.2_Missense_Mutation_p.D2118N|NEB_ENST00000409198.1_Missense_Mutation_p.D2118N|NEB_ENST00000604864.1_Missense_Mutation_p.D2118N|NEB_ENST00000603639.1_Missense_Mutation_p.D2118N			P20929	NEBU_HUMAN	nebulin	2118					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)			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)		CTGAGCATGTCGGCAGGGGTG	0.473																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(6352-6354)Gac>Aac		nebulin							262.0	262.0	262.0					2																	152512810		2100	4240	6340	SO:0001583	missense	4703	0	0					g.chr2:152512810C>T	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.6352G>A	chr2.hg19:g.152512810C>T	ENSP00000172853:p.Asp2118Asn	1					NEB_ENST00000603639.1_Missense_Mutation_p.D2118N|NEB_ENST00000409198.1_Missense_Mutation_p.D2118N|NEB_ENST00000427231.2_Missense_Mutation_p.D2118N|NEB_ENST00000604864.1_Missense_Mutation_p.D2118N|NEB_ENST00000397345.3_Missense_Mutation_p.D2118N	p.D2118N			1	2	3	2.176613	P20929	NEBU_HUMAN		49	6499	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	0	hg19	c.6352G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167562	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.82	4.04	0.47022	5.82	4.04	0.47022	.	0.048902	0.85682	N	0.000000	T	0.48892	0.1525	M	0.80183	2.485	0.80722	D	1	B	0.22003	0.063	B	0.18561	0.022	T	0.49011	-0.8983	10	0.59425	D	0.04	.	9.7389	0.40406	0.0:0.7901:0.0:0.2099	.	2118	P20929	NEBU_HUMAN	N	2118	ENSP00000386259:D2118N;ENSP00000380505:D2118N;ENSP00000416578:D2118N;ENSP00000172853:D2118N	ENSP00000172853:D2118N	D	-	1	0	0	NEB	152221056	152221056	0.996000	0.38824	0.694000	0.30210	0.943000	0.58893	3.361000	0.52306	0.816000	0.34421	0.563000	0.77884	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_004543			292	278		784	748	1		1	0		0	0	164	0		1	0	0	1	0	0	0	292	784
NEB	4703	broad.mit.edu	37	2	152518831	152518831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152518831C>T	ENST00000172853.10	-	46	5935	c.5788G>A	c.(5788-5790)Gac>Aac	p.D1930N	NEB_ENST00000397345.3_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000603639.1_Missense_Mutation_p.D1930N			P20929	NEBU_HUMAN	nebulin	1930					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)			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)		TTCATGAAGTCAGCATAGTCA	0.418																																						ENST00000172853.10	0.680000	0.250000	5.600000e-01	3.300000e-01	0.440000	0.455587	0.440000	0.420000																										0				301						c.(5788-5790)Gac>Aac		nebulin							100.0	95.0	96.0					2																	152518831		1853	4096	5949	SO:0001583	missense	4703	0	0					g.chr2:152518831C>T	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.5788G>A	chr2.hg19:g.152518831C>T	ENSP00000172853:p.Asp1930Asn	1					NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N	p.D1930N			1	2	3	2.176613	P20929	NEBU_HUMAN		46	5935	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.5788G>A		0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112924	0.77210	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05925	3.37;3.4;3.4;3.41	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.267158	0.43919	D	0.000508	T	0.03783	0.0107	N	0.01705	-0.755	0.80722	D	1	B	0.21071	0.051	B	0.28305	0.088	T	0.55166	-0.8183	10	0.13108	T	0.6	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1930	P20929	NEBU_HUMAN	N	1930	ENSP00000386259:D1930N;ENSP00000380505:D1930N;ENSP00000416578:D1930N;ENSP00000172853:D1930N	ENSP00000172853:D1930N	D	-	1	0	0	NEB	152227077	152227077	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.057000	0.41365	2.866000	0.98385	0.650000	0.86243	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-3.459539	1	0.170000	NM_004543			15	15		428	419	0		1			0	0	103	0		9.998554e-01	0	0	0	0	0	0	15	428
NEB	4703	broad.mit.edu	37	2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000172853.10	-	45	5631	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000397345.3_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000603639.1_Missense_Mutation_p.K1828N			P20929	NEBU_HUMAN	nebulin	1828					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)			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)		TGTGTTTCCCTTTGGCTTGTT	0.448																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(5482-5484)aaA>aaC		nebulin							77.0	76.0	76.0					2																	152520341		1894	4126	6020	SO:0001583	missense	4703	0	0					g.chr2:152520341T>G	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.5484A>C	chr2.hg19:g.152520341T>G	ENSP00000172853:p.Lys1828Asn	1					NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N	p.K1828N			1	2	3	2.176613	P20929	NEBU_HUMAN		45	5631	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.5484A>C		1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985387	0.74474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	4.39	0.52855	5.55	4.39	0.52855	.	0.104362	0.64402	D	0.000003	T	0.74711	0.3752	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	T	0.76055	-0.3099	10	0.49607	T	0.09	.	11.1655	0.48541	0.0:0.0721:0.0:0.9279	.	1828	P20929	NEBU_HUMAN	N	1828	ENSP00000386259:K1828N;ENSP00000380505:K1828N;ENSP00000416578:K1828N;ENSP00000172853:K1828N	ENSP00000172853:K1828N	K	-	3	2	2	NEB	152228587	152228587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	2.237000	0.73441	0.528000	0.53228	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_004543			57	57		259	253	1		1			0	0	60	0		1	0	0	0	0	0	0	57	259
NEB	4703	broad.mit.edu	37	2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000172853.10	-	38	4634	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000397345.3_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000603639.1_Missense_Mutation_p.N1496S			P20929	NEBU_HUMAN	nebulin	1496					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)			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)		CTGCTTTGTGTTATGCTGAGC	0.468																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(4486-4488)aAc>aGc		nebulin							146.0	141.0	143.0					2																	152527556		2105	4219	6324	SO:0001583	missense	4703	0	0					g.chr2:152527556T>C	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.4487A>G	chr2.hg19:g.152527556T>C	ENSP00000172853:p.Asn1496Ser	1					NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S	p.N1496S			1	2	3	2.176613	P20929	NEBU_HUMAN		38	4634	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.4487A>G		1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149237	0.78001	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.52;3.51;3.53;3.5	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06625	-1.0816	10	0.06099	T	0.92	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	1496	P20929	NEBU_HUMAN	S	1496	ENSP00000386259:N1496S;ENSP00000380505:N1496S;ENSP00000416578:N1496S;ENSP00000172853:N1496S	ENSP00000172853:N1496S	N	-	2	0	0	NEB	152235802	152235802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.068000	0.57534	2.174000	0.68829	0.533000	0.62120	AAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_004543			65	66		182	180	1		1			0	0	42	0		1	0	0	0	0	0	0	65	182
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000172853.10	-	37	4344	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000603639.1_Silent_p.V1399V			P20929	NEBU_HUMAN	nebulin	1399					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)			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)		CATTGGTAGCGACATCCTGGG	0.458																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(4195-4197)gtC>gtT		nebulin							187.0	178.0	181.0					2																	152528985		2070	4220	6290	SO:0001819	synonymous_variant	4703	5	120996	39				g.chr2:152528985G>A	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.4197C>T	chr2.hg19:g.152528985G>A		1					NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V	p.V1399V			1	2	3	2.176613	P20929	NEBU_HUMAN		37	4344	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	1	1	hg19	c.4197C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_004543			94	92		288	282	1		1			0	0	63	0		1	0	0	0	0	0	0	94	288
NEB	4703	broad.mit.edu	37	2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A	rs371287755		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000172853.10	-	30	3100	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000397345.3_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000603639.1_Missense_Mutation_p.R985C			P20929	NEBU_HUMAN	nebulin	985					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)			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)		GGATGTTGGCGATATTTTTTC	0.353																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				301						c.(2953-2955)Cgc>Tgc		nebulin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,3746		0,0,1873	197.0	186.0	190.0		2953,2953,2953	5.7	1.0	2		190	1,8205		0,1,4102	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	180,180,180	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	985/8526,985/8526,985/6670	152537333	1,11951	1873	4103	5976	SO:0001583	missense	4703	4	120808	41				g.chr2:152537333G>A	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.2953C>T	chr2.hg19:g.152537333G>A	ENSP00000172853:p.Arg985Cys	1					NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C	p.R985C			1	2	3	2.176613	P20929	NEBU_HUMAN		30	3100	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.2953C>T		1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840704	0.91197	0.0	1.22E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.13307	2.61;2.69;2.68;2.6	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58312	-0.7658	10	0.87932	D	0	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	985	P20929	NEBU_HUMAN	C	985	ENSP00000386259:R985C;ENSP00000380505:R985C;ENSP00000416578:R985C;ENSP00000172853:R985C	ENSP00000172853:R985C	R	-	1	0	0	NEB	152245579	152245579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.188000	0.58351	2.684000	0.91462	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	148		148	146	1	2.060000	-20.000000	1	0.170000	NM_004543			167	167		549	541	1		1			0	0	148	0		1	0	0	0	0	0	0	167	549
NEB	4703	broad.mit.edu	37	2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000172853.10	-	5	410	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000397345.3_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000603639.1_Missense_Mutation_p.H88R			P20929	NEBU_HUMAN	nebulin	88					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)			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)		TTTCTGACTGTGTGCAATGTA	0.453																																						ENST00000172853.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				301						c.(262-264)cAc>cGc		nebulin							77.0	75.0	76.0					2																	152584236		1902	4128	6030	SO:0001583	missense	4703	0	0					g.chr2:152584236T>C	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.263A>G	chr2.hg19:g.152584236T>C	ENSP00000172853:p.His88Arg	1					NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R	p.H88R			1	2	3	2.176613	P20929	NEBU_HUMAN		5	410	-			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	1	1	hg19	c.263A>G		1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329017	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.13272	0.32	0.80722	D	1	B	0.33841	0.428	P	0.44921	0.464	T	0.18555	-1.0333	10	0.06365	T	0.9	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	88	P20929	NEBU_HUMAN	R	88	ENSP00000386259:H88R;ENSP00000380505:H88R;ENSP00000416578:H88R;ENSP00000172853:H88R	ENSP00000172853:H88R	H	-	2	0	0	NEB	152292482	152292482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.010000	0.76353	2.308000	0.77769	0.533000	0.62120	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_004543			39	38		224	217	1		1			0	0	43	0		1	0	0	0	0	0	0	39	224
NBAS	51594	broad.mit.edu	37	2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2343					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)				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						GAGAGACCCGGCTTCGGCTTC	0.647																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(7027-7029)gCc>gTc		neuroblastoma amplified sequence							38.0	44.0	42.0					2																	15307260		2203	4300	6503	SO:0001583	missense	51594	0	0					g.chr2:15307260G>A	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.7028C>T	chr2.hg19:g.15307260G>A	ENSP00000281513:p.Ala2343Val	1					NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	p.A2343V	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		52	7053	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	1	1	hg19	c.7028C>T	CCDS1685.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897598|3.897598	0.72639|0.72639	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.35973|.	1.28;1.55|.	5.34|5.34	5.34|5.34	0.76211|0.76211	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.74748|0.74748	-0.3560|-0.3560	10|5	0.87932|.	D|.	0|.	.|.	18.0294|18.0294	0.89278|0.89278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2223;2343|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	2223;2343;156|1391	ENSP00000413201:A2223V;ENSP00000281513:A2343V|.	ENSP00000281513:A2343V|.	A|P	-|-	2|1	0|0	0|0	NBAS|NBAS	15224711|15224711	15224711|15224711	1.000000|1.000000	0.71417|0.71417	0.572000|0.572000	0.28498|0.28498	0.009000|0.009000	0.06853|0.06853	9.190000|9.190000	0.94934|0.94934	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GCC|CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_015909			82	83		252	248	1		1	1		0	0	58	0		1	1	0	63	0	75	0	82	252
NBAS	51594	broad.mit.edu	37	2	15330414	15330414	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2182					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)				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						TAGGTGGCCAAGCTTGCAAAA	0.378																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				112						c.(6544-6546)gcT>gcG		neuroblastoma amplified sequence							115.0	115.0	115.0					2																	15330414		2203	4300	6503	SO:0001819	synonymous_variant	51594	0	0					g.chr2:15330414A>C	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.6546T>G	chr2.hg19:g.15330414A>C		1					NBAS_ENST00000441750.1_Silent_p.A2062A	p.A2182A	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		49	6571	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	1	1	hg19	c.6546T>G	CCDS1685.1	1	.	.	.	.	.	.	.	.	.	.	A	6.795	0.515612	0.12944	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	5.37	-10.7	0.00240	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	2.0951	0.03666	0.1547:0.3135:0.2992:0.2326	.	.	.	.	R	1230	.	.	L	-	2	0	0	NBAS	15247865	15247865	0.004000	0.15560	0.132000	0.22025	0.631000	0.37964	-1.528000	0.02225	-3.487000	0.00154	0.528000	0.53228	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_015909			47	44		273	269	1		1	1		0	0	64	0		1	9.999976e-01	0	17	0	98	0	47	273
STAM2	10254	broad.mit.edu	37	2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	254	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			N -> D (in Ref. 2; CAB63735). {ECO:0000305}.	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)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303																																						ENST00000263904.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(760-762)aAt>aCt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							107.0	114.0	112.0					2																	152992061		2203	4299	6502	SO:0001583	missense	10254	0	0					g.chr2:152992061T>G	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.761A>C	chr2.hg19:g.152992061T>G	ENSP00000263904:p.Asn254Thr	1						p.N254T	NM_005843.4	NP_005834.4	1	2	3	2.176613	O75886	STAM2_HUMAN		8	1110	-			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	1	1	hg19	c.761A>C	CCDS2196.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063769	0.76187	.	.	ENSG00000115145	ENST00000263904	T	0.37411	1.2	5.55	4.36	0.52297	5.55	4.36	0.52297	Src homology-3 domain (4);	0.041476	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50919	1.6	0.80722	D	1	D;D	0.60575	0.982;0.988	P;P	0.61070	0.883;0.858	T	0.40997	-0.9533	10	0.48119	T	0.1	-18.2276	11.6591	0.51337	0.0:0.0704:0.0:0.9296	.	254;254	O75886-2;O75886	.;STAM2_HUMAN	T	254	ENSP00000263904:N254T	ENSP00000263904:N254T	N	-	2	0	0	STAM2	152700307	152700307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	0.897000	0.36392	0.460000	0.39030	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	1	0	1		2	2	2	0		0	0	102		102	103	1	2.060000	-20.000000	1	0.170000	NM_005843			120	120		324	320	1		1	1		0	0	102	0		1	1	0	32	0	62	0	120	324
FMNL2	114793	broad.mit.edu	37	2	153476145	153476145	+	Missense_Mutation	SNP	G	G	A	rs565900021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153476145G>A	ENST00000288670.9	+	15	2117	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	584	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GACTGTACCAGCTCCTCCCTT	0.642																																						ENST00000288670.9	1.000000	0.180000	8.300000e-01	3.300000e-01	0.540000	0.577053	0.540000	1.000000																										0				23						c.(1750-1752)Gct>Act		formin-like 2							32.0	32.0	32.0					2																	153476145		1925	4126	6051	SO:0001583	missense	114793	0	0					g.chr2:153476145G>A	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.1750G>A	chr2.hg19:g.153476145G>A	ENSP00000288670:p.Ala584Thr	1					FMNL2_ENST00000475377.2_5'UTR	p.A584T	NM_052905.3	NP_443137.2	1	2	3	2.176613	Q96PY5	FMNL2_HUMAN		15	2117	+			B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	0	1	hg19	c.1750G>A	CCDS46429.1	0	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934621	0.18206	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.17054	2.3	5.37	4.48	0.54585	5.37	4.48	0.54585	Actin-binding FH2 (1);	0.314095	0.30177	N	0.010231	T	0.08088	0.0202	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.26573	-1.0099	10	0.23891	T	0.37	.	9.0604	0.36431	0.0979:0.0:0.9021:0.0	.	584;65;584	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	T	584;65	ENSP00000288670:A584T	ENSP00000288670:A584T	A	+	1	0	0	FMNL2	153184391	153184391	0.999000	0.42202	0.999000	0.59377	0.271000	0.26615	2.815000	0.48018	2.516000	0.84829	0.549000	0.68633	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	0	0	0		2	2	2	0		0	0	22		22	21	1	2.060000	-7.507890	1	0.170000	NM_052905			4	4		99	95	0		1	1		0	0	22	0		8.822574e-01	8.962260e-01	0	3	0	102	0	4	99
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					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)				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						GAGCTCTTGACGAGTGGCCAA	0.453																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(4000-4002)cGt>cAt		neuroblastoma amplified sequence		C	HIS/ARG	0,4406		0,0,2203	179.0	170.0	173.0		4001	5.0	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594	7	121412	42				g.chr2:15493765C>T	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.4001G>A	chr2.hg19:g.15493765C>T	ENSP00000281513:p.Arg1334His	1					NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	p.R1334H	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		34	4026	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	1	1	hg19	c.4001G>A	CCDS1685.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	0|0	NBAS|NBAS	15411216|15411216	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_015909			242	238		604	589	1		1	1		0	0	150	0		1	1	0	38	0	57	0	242	604
FMNL2	114793	broad.mit.edu	37	2	153484903	153484903	+	Silent	SNP	C	C	T	rs200459731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000475377.2	+	5	581	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FMNL2_ENST00000288670.9_Silent_p.Y752Y			Q96PY5	FMNL2_HUMAN	formin-like 2	752	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)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19631	0.0		0.0	False		,,,				2504	0.0					ENST00000475377.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(379-381)taC>taT		formin-like 2		C		0,3804		0,0,1902	124.0	123.0	123.0		2256	-6.8	0.6	2		123	1,8253		0,1,4126	no	coding-synonymous	FMNL2	NM_052905.3		0,1,6028	TT,TC,CC		0.0121,0.0,0.0083		752/1093	153484903	1,12057	1902	4127	6029	SO:0001819	synonymous_variant	114793	8	120870	42				g.chr2:153484903C>T	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.381C>T	chr2.hg19:g.153484903C>T		1					FMNL2_ENST00000288670.9_Silent_p.Y752Y	p.Y127Y			1	2	3	2.176613	Q96PY5	FMNL2_HUMAN		5	581	+			B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000475377.2	1	1	hg19	c.381C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_052905			79	79		431	421	1		1	1		0	0	88	0		1	1	0	56	0	209	0	79	431
GALNT13	114805	broad.mit.edu	37	2	154996996	154996996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	97					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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAATAGAAGTCTGCCAGATGT	0.333																																						ENST00000392825.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				65						c.(289-291)Ctg>Ttg		polypeptide N-acetylgalactosaminyltransferase 13							93.0	94.0	93.0					2																	154996996		2203	4300	6503	SO:0001819	synonymous_variant	114805	0	0					g.chr2:154996996C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.289C>T	chr2.hg19:g.154996996C>T		1					GALNT13_ENST00000409237.1_Silent_p.L97L	p.L97L	NM_052917.2	NP_443149.2	1	2	3	2.176613	Q8IUC8	GLT13_HUMAN		4	856	+			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	1	1	hg19	c.289C>T	CCDS2199.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.144189	1	0.170000	NM_052917			45	41		275	270	1		1	0		0	0	59	0		1	5.620260e-02	0	0	0	3	0	45	275
NBAS	51594	broad.mit.edu	37	2	15534373	15534373	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	ENST00000281513.5	-	28	3260	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_ENST00000441750.1_Silent_p.L959L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1079					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)				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						TGCCTCGTCAATCTAACCATC	0.353																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				112						c.(3235-3237)Ttg>Ctg		neuroblastoma amplified sequence							49.0	46.0	47.0					2																	15534373		2201	4297	6498	SO:0001819	synonymous_variant	51594	0	0					g.chr2:15534373A>G	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.3235T>C	chr2.hg19:g.15534373A>G		1					NBAS_ENST00000441750.1_Silent_p.L959L	p.L1079L	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		28	3260	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	0	1	hg19	c.3235T>C	CCDS1685.1	1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270526	0.23221	.	.	ENSG00000151779	ENST00000429842	.	.	.	5.48	-0.858	0.10689	5.48	-0.858	0.10689	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	.	10.5418	0.45037	0.5372:0.0:0.4628:0.0	.	.	.	.	T	176	.	.	I	-	2	0	0	NBAS	15451824	15451824	0.000000	0.05858	0.979000	0.43373	0.996000	0.88848	-0.341000	0.07811	-0.117000	0.11872	0.533000	0.62120	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_015909			24	22		107	105	0		1	1		0	0	24	0		9.999998e-01	9.991529e-01	0	9	0	45	0	24	107
NBAS	51594	broad.mit.edu	37	2	15555769	15555769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	946					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)				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						CCACACCAGGCGACTGTTTCT	0.388																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(2836-2838)tcG>tcA		neuroblastoma amplified sequence							86.0	88.0	87.0					2																	15555769		2203	4300	6503	SO:0001819	synonymous_variant	51594	0	0					g.chr2:15555769C>T	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.2838G>A	chr2.hg19:g.15555769C>T		1					NBAS_ENST00000441750.1_Intron	p.S946S	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		25	2863	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	1	1	hg19	c.2838G>A	CCDS1685.1	1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874693	0.17395	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	0.815	0.18763	6.16	0.815	0.18763	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.1483	0.06479	0.5378:0.1105:0.2501:0.1016	.	.	.	.	T	44	.	.	A	-	1	0	0	NBAS	15473220	15473220	0.667000	0.27484	0.840000	0.33206	0.899000	0.52679	0.235000	0.17948	0.212000	0.20703	-0.271000	0.10264	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_015909			136	135		375	371	1		1	1		0	0	97	0		1	9.999999e-01	0	21	0	46	0	136	375
NBAS	51594	broad.mit.edu	37	2	15564475	15564475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15564475C>A	ENST00000281513.5	-	23	2566	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	847					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.Q847H(2)		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						CTGCTCTGGTCTGATACCAGT	0.478																																						ENST00000281513.5	0.600000	0.190000	4.800000e-01	2.600000e-01	0.360000	0.379814	0.360000	0.360000																										2	Substitution - Missense(2)	p.Q847H(2)	central_nervous_system(2)	112						c.(2539-2541)caG>caT		neuroblastoma amplified sequence							220.0	161.0	181.0					2																	15564475		2203	4300	6503	SO:0001583	missense	51594	0	0					g.chr2:15564475C>A	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.2541G>T	chr2.hg19:g.15564475C>A	ENSP00000281513:p.Gln847His	1					NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	p.Q847H	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		23	2566	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	0	1	hg19	c.2541G>T	CCDS1685.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481462|2.481462	0.44147|0.44147	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.27256|.	2.29;2.29;1.68|.	5.37|5.37	2.34|2.34	0.29019|0.29019	5.37|5.37	2.34|2.34	0.29019|0.29019	Secretory pathway Sec39 (1);|.	0.769193|.	0.13456|.	N|.	0.386524|.	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B|.	0.41569|.	0.755;0.024|.	B;B|.	0.37346|.	0.247;0.057|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.87932|.	D|.	0|.	.|.	7.3536|7.3536	0.26706|0.26706	0.1232:0.6827:0.1198:0.0744|0.1232:0.6827:0.1198:0.0744	.|.	847;847|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	847;847;14|15	ENSP00000413201:Q847H;ENSP00000281513:Q847H;ENSP00000396501:Q14H|.	ENSP00000281513:Q847H|.	Q|R	-|-	3|2	2|0	2|0	NBAS|NBAS	15481926|15481926	15481926|15481926	0.963000|0.963000	0.33076|0.33076	0.042000|0.042000	0.18584|0.18584	0.982000|0.982000	0.71751|0.71751	1.543000|1.543000	0.36147|0.36147	1.216000|1.216000	0.43427|0.43427	0.655000|0.655000	0.94253|0.94253	CAG|AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.492181	1	0.170000	NM_015909			11	11		387	379	0		1	1		0	0	56	0		9.981918e-01	5.161220e-01	0	2	0	57	0	11	387
NBAS	51594	broad.mit.edu	37	2	15601859	15601859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	718					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)				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						TTCTGAATTTCTTAAAGAATT	0.308																																						ENST00000281513.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				112						c.(2152-2154)aaG>aaA		neuroblastoma amplified sequence							28.0	29.0	29.0					2																	15601859		2201	4289	6490	SO:0001819	synonymous_variant	51594	0	0					g.chr2:15601859C>T	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.2154G>A	chr2.hg19:g.15601859C>T		1					NBAS_ENST00000441750.1_Silent_p.K718K	p.K718K	NM_015909.3	NP_056993.2	1	2	3	2.183349	A2RRP1	NBAS_HUMAN		20	2179	-			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	1	1	hg19	c.2154G>A	CCDS1685.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_015909			21	21		103	100	1		1	1		0	0	33	0		9.999984e-01	9.542257e-01	0	2	0	26	0	21	103
GALNT13	114805	broad.mit.edu	37	2	155102495	155102495	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	286	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTACCTGTCAGGTATGTAGAT	0.343																																						ENST00000392825.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(856-858)aGg>aAg		polypeptide N-acetylgalactosaminyltransferase 13							52.0	50.0	51.0					2																	155102495		2203	4300	6503	SO:0001630	splice_region_variant	114805	0	0					g.chr2:155102495G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.857+1G>A	chr2.hg19:g.155102495G>A		1					GALNT13_ENST00000409237.1_Splice_Site_p.R286K	p.R286K	NM_052917.2	NP_443149.2	1	2	3	2.176613	Q8IUC8	GLT13_HUMAN		7	1424	+			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Splice_Site	SNP	ENST00000392825.3	1	0	hg19	c.857G>A	CCDS2199.1	1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788402	0.49997	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.13	4.24	0.50183	5.13	4.24	0.50183	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.54615	0.1869	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.15719	0.001;0.01;0.014;0.01	B;B;B;B	0.24006	0.006;0.034;0.05;0.034	T	0.51132	-0.8744	10	0.25106	T	0.35	.	15.0273	0.71680	0.0:0.1431:0.8569:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	286	ENSP00000376570:R286K;ENSP00000387239:R286K	ENSP00000376570:R286K	R	+	2	0	0	GALNT13	154810741	154810741	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.373000	0.73128	1.298000	0.44778	-0.292000	0.09595	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	0	0	1		2	2	2	0		0	0	49		49	47	1	2.060000	-3.717538	1	0.170000	NM_052917	Missense_Mutation		46	42		172	167	1		1	0		0	0	49	0		1	1.177403e-01	0	0	0	3	0	46	172
NR4A2	4929	broad.mit.edu	37	2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000429376.1_Silent_p.Q445Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	543					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)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478																																						ENST00000339562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1627-1629)aAt>aGt		nuclear receptor subfamily 4, group A, member 2							112.0	114.0	114.0					2																	157182425		2203	4300	6503	SO:0001583	missense	4929	4	121412	41				g.chr2:157182425T>C	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.1628A>G	chr2.hg19:g.157182425T>C	ENSP00000344479:p.Asn543Ser	1					NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S	p.N543S	NM_006186.3	NP_006177.1	1	2	3	2.176613	P43354	NR4A2_HUMAN		8	1990	-			Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	1	1	hg19	c.1628A>G	CCDS2201.1	1	.	.	.	.	.	.	.	.	.	.	T	0.699	-0.791458	0.02884	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.06	6.06	0.98353	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.144766	0.64402	D	0.000006	T	0.19406	0.0466	N	0.00583	-1.355	0.45108	D	0.998122	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.21014	T	0.42	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	543	P43354	NR4A2_HUMAN	S	543;480;543;554	ENSP00000344479:N543S;ENSP00000389986:N480S;ENSP00000386747:N543S;ENSP00000444925:N554S	ENSP00000344479:N543S	N	-	2	0	0	NR4A2	156890671	156890671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.324000	0.78689	0.533000	0.62120	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000				101	97		279	273	1		1	1		0	0	64	0		1	9.759960e-01	0	5	0	14	0	101	279
NR4A2	4929	broad.mit.edu	37	2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	321					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)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512																																						ENST00000339562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(961-963)caG>caT		nuclear receptor subfamily 4, group A, member 2							112.0	102.0	105.0					2																	157184947		2203	4300	6503	SO:0001583	missense	4929	0	0					g.chr2:157184947C>A	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.963G>T	chr2.hg19:g.157184947C>A	ENSP00000344479:p.Gln321His	1					NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H	p.Q321H	NM_006186.3	NP_006177.1	1	2	3	2.176613	P43354	NR4A2_HUMAN		4	1325	-			Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	1	1	hg19	c.963G>T	CCDS2201.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002799|3.002799	0.54254|0.54254	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000406048|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	.|D;D;D;D;D;D	.|0.97430	.|-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	6.07|6.07	4.3|4.3	0.51218|0.51218	6.07|6.07	4.3|4.3	0.51218|0.51218	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.053540	.|0.85682	.|D	.|0.000000	.|D	.|0.98102	.|0.9374	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.98019	.|1.0370	.|10	.|0.87932	.|D	.|0	.|.	9.36|9.36	0.38190|0.38190	0.1191:0.7675:0.0:0.1134|0.1191:0.7675:0.0:0.1134	.|.	.|321	.|P43354	.|NR4A2_HUMAN	X|H	103|321;258;321;332;321;258	.|ENSP00000344479:Q321H;ENSP00000389986:Q258H;ENSP00000386747:Q321H;ENSP00000444925:Q332H;ENSP00000386993:Q321H;ENSP00000410952:Q258H	.|ENSP00000344479:Q321H	E|Q	-|-	1|3	0|2	0|2	NR4A2|NR4A2	156893193|156893193	156893193|156893193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.201000|2.201000	0.42734|0.42734	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	GAA|CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	1	0	0		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000				80	79		399	394	1		1	1		0	0	115	0		1	7.733919e-01	0	4	0	12	0	80	399
NR4A2	4929	broad.mit.edu	37	2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	72					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)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498																																						ENST00000339562.4	0.540000	0.190000	4.400000e-01	2.500000e-01	0.340000	0.354388	0.340000	0.330000																										0				40						c.(214-216)Gac>Aac		nuclear receptor subfamily 4, group A, member 2							164.0	144.0	151.0					2																	157186485		2203	4300	6503	SO:0001583	missense	4929	0	0					g.chr2:157186485C>T	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.214G>A	chr2.hg19:g.157186485C>T	ENSP00000344479:p.Asp72Asn	1					NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N	p.D72N	NM_006186.3	NP_006177.1	1	2	3	2.176613	P43354	NR4A2_HUMAN		3	576	-			Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	1	1	hg19	c.214G>A	CCDS2201.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257573|4.257573	0.80246|0.80246	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709|ENST00000406048	D;D;D;D;D;D;D;D|.	0.93076|.	-2.93;-2.96;-2.93;-2.94;-3.16;-3.11;-1.58;-2.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65140|.	0.932|.	T|T	0.67248|0.67248	-0.5718|-0.5718	9|5	0.46703|.	T|.	0.11|.	.|.	19.4006|19.4006	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72|.	P43354|.	NR4A2_HUMAN|.	N|Q	72;9;72;83;72;9;72;9|50	ENSP00000344479:D72N;ENSP00000389986:D9N;ENSP00000386747:D72N;ENSP00000444925:D83N;ENSP00000386993:D72N;ENSP00000410952:D9N;ENSP00000406808:D72N;ENSP00000388120:D9N|.	ENSP00000344479:D72N|.	D|R	-|-	1|2	0|0	0|0	NR4A2|NR4A2	156894731|156894731	156894731|156894731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAC|CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	0	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-3.033595	1	0.170000				14	14		521	502	0		1	1		0	0	92	0		9.996892e-01	1.957823e-01	0	2	0	27	0	14	521
GALNT5	11227	broad.mit.edu	37	2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	275				NTS -> AEG (in Ref. 5). {ECO:0000305}.	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)			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						GCCAATACGAGTCTTCCTTTT	0.423																																						ENST00000259056.4	1.000000	0.680000	1	8.100000e-01	0.950000	0.920559	0.950000	1.000000																										0				56						c.(823-825)aGt>aAt		polypeptide N-acetylgalactosaminyltransferase 5							75.0	74.0	74.0					2																	158115418		2203	4300	6503	SO:0001583	missense	11227	0	0					g.chr2:158115418G>A	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.824G>A	chr2.hg19:g.158115418G>A	ENSP00000259056:p.Ser275Asn	1						p.S275N	NM_014568.1	NP_055383.1	1	2	3	2.176613	Q7Z7M9	GALT5_HUMAN		1	1309	+			A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	1	1	hg19	c.824G>A	CCDS2203.1	1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666637	0.00765	.	.	ENSG00000136542	ENST00000259056	T	0.55413	0.52	5.66	-3.12	0.05282	5.66	-3.12	0.05282	.	9.801460	0.00166	N	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.10111	T	0.7	.	6.1131	0.20112	0.529:0.2649:0.2061:0.0	.	275	Q7Z7M9	GALT5_HUMAN	N	275	ENSP00000259056:S275N	ENSP00000259056:S275N	S	+	2	0	0	GALNT5	157823664	157823664	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.862000	0.04263	-0.403000	0.07622	0.655000	0.94253	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_014568			38	37		473	464	1		1	1		0	0	73	0		1	9.612339e-01	0	10	0	58	0	38	473
GALNT5	11227	broad.mit.edu	37	2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	312					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)			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						GGGGCTCATGGGAAGAAACTC	0.403																																						ENST00000259056.4	1.000000	0.640000	1	7.600000e-01	0.890000	0.887400	0.890000	1.000000																										0				56						c.(934-936)gGg>gAg		polypeptide N-acetylgalactosaminyltransferase 5							65.0	70.0	68.0					2																	158115529		2203	4299	6502	SO:0001583	missense	11227	1	116486	30				g.chr2:158115529G>A	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.935G>A	chr2.hg19:g.158115529G>A	ENSP00000259056:p.Gly312Glu	1						p.G312E	NM_014568.1	NP_055383.1	1	2	3	2.176613	Q7Z7M9	GALT5_HUMAN		1	1420	+			A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	1	1	hg19	c.935G>A	CCDS2203.1	1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554576	0.27739	.	.	ENSG00000136542	ENST00000259056	T	0.56611	0.45	5.66	2.83	0.33086	5.66	2.83	0.33086	.	3.644830	0.00687	N	0.000710	T	0.37183	0.0994	N	0.24115	0.695	0.26770	N	0.969815	B	0.25719	0.132	B	0.17098	0.017	T	0.28038	-1.0056	10	0.38643	T	0.18	.	1.5072	0.02489	0.1653:0.1536:0.4248:0.2563	.	312	Q7Z7M9	GALT5_HUMAN	E	312	ENSP00000259056:G312E	ENSP00000259056:G312E	G	+	2	0	0	GALNT5	157823775	157823775	0.996000	0.38824	0.499000	0.27577	0.667000	0.39255	0.943000	0.29030	0.834000	0.34852	0.655000	0.94253	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-2.966611	1	0.170000	NM_014568			38	35		503	492	1		1	1		0	0	94	0		1	9.457419e-01	0	11	0	55	0	38	503
ACVR1C	130399	broad.mit.edu	37	2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											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						ATGCTTCACAGCCAACCCTAA	0.408																																						ENST00000243349.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1033-1035)gCt>gTt		activin A receptor, type IC							237.0	215.0	223.0					2																	158399284		2203	4300	6503	SO:0001583	missense	130399	0	0					g.chr2:158399284G>A	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.1034C>T	chr2.hg19:g.158399284G>A	ENSP00000243349:p.Ala345Val	1					ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V	p.A345V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	1	2	3	2.176613				6	1394	-				Missense_Mutation	SNP	ENST00000243349.8	1	1	hg19	c.1034C>T	CCDS2205.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	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	0.51477	D	0.000088	D	0.91023	0.7176	H	0.95745	3.715	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	0.92740	0.6207	10	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	188;265;345	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	345;295;188;265	ENSP00000243349:A345V;ENSP00000387168:A295V;ENSP00000335139:A188V;ENSP00000335178:A265V	ENSP00000243349:A345V	A	-	2	0	0	ACVR1C	158107530	158107530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_145259			125	123		507	499	1		1	0		0	0	110	0		1	1.788706e-01	0	0	0	4	0	125	507
UPP2	151531	broad.mit.edu	37	2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000005756.4	+	1	253	c.59T>C	c.(58-60)gTt>gCt	p.V20A	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.V77A|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	20					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AATACATATGTTGGGTGAGTA	0.353																																						ENST00000005756.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(58-60)gTt>gCt		uridine phosphorylase 2	Fluorouracil(DB00544)						135.0	145.0	142.0					2																	158958634		2203	4300	6503	SO:0001583	missense	151531	0	0					g.chr2:158958634T>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.59T>C	chr2.hg19:g.158958634T>C	ENSP00000005756:p.Val20Ala	1					UPP2_ENST00000605860.1_Missense_Mutation_p.V77A|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A	p.V20A	NM_173355.3	NP_775491.1	1	2	3	2.176613	O95045	UPP2_HUMAN		1	253	+			B3KV87	Missense_Mutation	SNP	ENST00000005756.4	1	1	hg19	c.59T>C	CCDS2207.1	1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.917797	0.00503	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.30714	1.52;1.6	5.67	1.66	0.24008	5.67	1.66	0.24008	.	0.799265	0.11506	N	0.557199	T	0.16557	0.0398	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.08179	T	0.78	.	5.5721	0.17202	0.1839:0.0:0.2736:0.5425	.	20	O95045	UPP2_HUMAN	A	77;20	ENSP00000387230:V77A;ENSP00000005756:V20A	ENSP00000005756:V20A	V	+	2	0	0	UPP2	158666880	158666880	0.344000	0.24827	0.004000	0.12327	0.089000	0.18198	0.340000	0.19892	0.036000	0.15547	0.533000	0.62120	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	1	0	0		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_173355			107	105		536	525	1		1			0	0	138	0		1	0	0	0	0	0	0	107	536
PKP4	8502	broad.mit.edu	37	2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389759.3	+	21	3434	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R1065W	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1108					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)				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						ACAAAATAGACGGCTACAGGT	0.403										HNSCC(62;0.18)																												ENST00000389759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3322-3324)Cgg>Tgg		plakophilin 4							45.0	45.0	45.0					2																	159535158		2203	4297	6500	SO:0001583	missense	8502	0	0					g.chr2:159535158C>T	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.3322C>T	chr2.hg19:g.159535158C>T	ENSP00000374409:p.Arg1108Trp	1	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R1065W	p.R1108W	NM_003628.3	NP_003619.2	1	2	3	2.176613	Q99569	PKP4_HUMAN		21	3434	+			Q86W91	Missense_Mutation	SNP	ENST00000389759.3	1	1	hg19	c.3322C>T	CCDS33305.1	1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502554	0.64298	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75821	-0.97;-0.93	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.61489	0.2351	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46706	0.722;0.617;0.883	B;B;B	0.31101	0.08;0.124;0.117	T	0.69749	-0.5061	10	0.87932	D	0	-14.9775	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	W	1065;1108	ENSP00000374407:R1065W;ENSP00000374409:R1108W	ENSP00000374407:R1065W	R	+	1	2	2	PKP4	159243404	159243404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.769000	0.95229	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1	1	0	1		2	2	2	0		0	0	76		76	84	1	2.060000	-20.000000	1	0.170000				117	109		351	326	1		1	1		0	0	76	0		1	1	0	96	0	147	0	117	351
PKP4	8502	broad.mit.edu	37	2	159537009	159537009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389759.3	+	22	3511	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.L1090L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1133					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)				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						GATTGTATTTGCAGTCTCCTC	0.363										HNSCC(62;0.18)																												ENST00000389759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3397-3399)ttG>ttA		plakophilin 4							112.0	105.0	107.0					2																	159537009		2203	4300	6503	SO:0001819	synonymous_variant	8502	0	0					g.chr2:159537009G>A	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.3399G>A	chr2.hg19:g.159537009G>A		1	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Silent_p.L1090L	p.L1133L	NM_003628.3	NP_003619.2	1	2	3	2.176613	Q99569	PKP4_HUMAN		22	3511	+			Q86W91	Silent	SNP	ENST00000389759.3	1	1	hg19	c.3399G>A	CCDS33305.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				147	141		424	418	1		1	1		0	0	88	0		1	1	0	143	0	169	0	147	424
TANC1	85461	broad.mit.edu	37	2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	246					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)				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						GTTTGGAATGGAATAAAGATG	0.488																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(736-738)tgG>tgA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							61.0	63.0	62.0					2																	160019849		1890	4103	5993	SO:0001587	stop_gained	85461	0	0					g.chr2:160019849G>A	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.738G>A	chr2.hg19:g.160019849G>A	ENSP00000263635:p.Trp246*	1					TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	p.W246*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		8	975	+			C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	0	1	hg19	c.738G>A	CCDS42766.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.336726	0.98221	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.04	5.17	0.71159	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	140;246	.	ENSP00000263635:W246X	W	+	3	0	0	TANC1	159728095	159728095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.616000	0.98359	1.577000	0.49804	0.563000	0.77884	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-20.000000	1	0.170000				113	112		315	311	1		1	1		0	0	86	0		1	9.999594e-01	0	2	0	42	0	113	315
TANC1	85461	broad.mit.edu	37	2	160020017	160020017	+	Silent	SNP	C	C	A	rs370313221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	302					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)				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						ATTCTCAGGGCTCCAGCTCAC	0.562																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(904-906)ggC>ggA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							56.0	63.0	61.0					2																	160020017		2014	4178	6192	SO:0001819	synonymous_variant	85461	0	0					g.chr2:160020017C>A	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.906C>A	chr2.hg19:g.160020017C>A		1					TANC1_ENST00000454300.1_Silent_p.G196G	p.G302G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		8	1143	+			C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	1	1	hg19	c.906C>A	CCDS42766.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				53	51		228	226	1		1	1		0	0	45	0		1	9.998431e-01	0	25	0	34	0	53	228
TANC1	85461	broad.mit.edu	37	2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	526					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)				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						GCACAGCATCGCAGCTTTGCT	0.582																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1576-1578)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							212.0	212.0	212.0					2																	160031536		2113	4222	6335	SO:0001583	missense	85461	1	121042	35				g.chr2:160031536G>A	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.1576G>A	chr2.hg19:g.160031536G>A	ENSP00000263635:p.Ala526Thr	1					TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	p.A526T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		12	1813	+			C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	1	1	hg19	c.1576G>A	CCDS42766.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678943	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.76968	-1.02;-1.06	5.6	4.71	0.59529	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.80616	2.505	0.80722	D	1	P;P;D	0.89917	0.868;0.919;1.0	B;B;D	0.78314	0.132;0.369;0.991	D	0.89947	0.4077	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.8621:0.1379	.	518;420;526	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	420;526	ENSP00000396339:A420T;ENSP00000263635:A526T	ENSP00000263635:A526T	A	+	1	0	0	TANC1	159739782	159739782	1.000000	0.71417	0.329000	0.25429	0.901000	0.52897	7.690000	0.84178	1.325000	0.45301	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	297		297	292	1	2.060000	-20.000000	1	0.170000				396	389		1145	1118	1		1	1		0	0	297	0		1	9.999895e-01	0	6	0	43	0	396	1145
TANC1	85461	broad.mit.edu	37	2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A	rs367631474		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	886					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)				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						TTCAAGCCATCTCCAAGCCCT	0.537																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2656-2658)Ctc>Atc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							72.0	71.0	71.0					2																	160043449		1924	4115	6039	SO:0001583	missense	85461	0	0					g.chr2:160043449C>A	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.2656C>A	chr2.hg19:g.160043449C>A	ENSP00000263635:p.Leu886Ile	1					TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	p.L886I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		16	2893	+			C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	1	1	hg19	c.2656C>A	CCDS42766.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.218434	0.95104	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75367	-0.89;-0.93	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.985	D;D;P	0.83275	0.991;0.996;0.808	D	0.86007	0.1498	10	0.72032	D	0.01	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	878;780;886	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	I	780;886	ENSP00000396339:L780I;ENSP00000263635:L886I	ENSP00000263635:L886I	L	+	1	0	0	TANC1	159751695	159751695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	2.861000	0.98227	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				71	56		230	225	1		1	1		0	0	51	0		1	9.999977e-01	0	8	0	57	0	71	230
TANC1	85461	broad.mit.edu	37	2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1083					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)				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						CCTTTAGCCCTGACTGCCGCC	0.562																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3247-3249)cTg>cGg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							106.0	114.0	111.0					2																	160074011		2033	4211	6244	SO:0001583	missense	85461	0	0					g.chr2:160074011T>G	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.3248T>G	chr2.hg19:g.160074011T>G	ENSP00000263635:p.Leu1083Arg	1					TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	p.L1083R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		20	3485	+			C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	1	1	hg19	c.3248T>G	CCDS42766.1	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657482	0.88154	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.91295	-2.82;-1.58	5.91	5.91	0.95273	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98351	4.21	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	0.99004	1.0812	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1075;977;1083	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	977;1083	ENSP00000396339:L977R;ENSP00000263635:L1083R	ENSP00000263635:L1083R	L	+	2	0	0	TANC1	159782257	159782257	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.841000	0.86834	2.269000	0.75478	0.533000	0.62120	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	0	0	1		18	3	2	1		1	1	186		186	185	1	2.060000	-20.000000	1	0.170000				191	188		752	743	1		1	1		1	0	186	0		1	9.990622e-01	0	6	0	46	0	191	752
TANC1	85461	broad.mit.edu	37	2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1344					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)				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						CAATTTGTCGCGATGCCGAAG	0.483																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(4030-4032)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							95.0	96.0	96.0					2																	160084456		1912	4130	6042	SO:0001587	stop_gained	85461	0	0					g.chr2:160084456C>T	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.4030C>T	chr2.hg19:g.160084456C>T	ENSP00000263635:p.Arg1344*	1					TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	p.R1344*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		25	4267	+			C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	0	1	hg19	c.4030C>T	CCDS42766.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.797480	0.99604	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.19	0.71726	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6244	0.76840	0.3198:0.6802:0.0:0.0	.	.	.	.	X	1238;1344	.	.	R	+	1	2	2	TANC1	159792702	159792702	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	2.467000	0.45093	1.551000	0.49450	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000				113	110		342	335	1		1	1		0	0	94	0		1	9.999898e-01	0	3	0	50	0	113	342
TANC1	85461	broad.mit.edu	37	2	160086401	160086401	+	Silent	SNP	C	C	T	rs369072086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1488					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)				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						CCTCATACATCCGAAACCTTC	0.552																																						ENST00000263635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(4462-4464)atC>atT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							94.0	99.0	97.0					2																	160086401		1993	4159	6152	SO:0001819	synonymous_variant	85461	0	0					g.chr2:160086401C>T	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.4464C>T	chr2.hg19:g.160086401C>T		1					TANC1_ENST00000454300.1_Silent_p.I1382I	p.I1488I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	1	2	3	2.176613	Q9C0D5	TANC1_HUMAN		27	4701	+			C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	1	1	hg19	c.4464C>T	CCDS42766.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-9.321355	1	0.170000				184	181		482	473	1		1	1		0	0	101	0		1	1	0	3	0	76	0	184	482
WDSUB1	151525	broad.mit.edu	37	2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409990.3	-	9	1251	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	332	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333																																						ENST00000409990.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(994-996)tGg>tAg		WD repeat, sterile alpha motif and U-box domain containing 1							103.0	99.0	100.0					2																	160112844		2203	4300	6503	SO:0001587	stop_gained	151525	0	0					g.chr2:160112844C>T	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.995G>A	chr2.hg19:g.160112844C>T	ENSP00000387078:p.Trp332*	1					WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*	p.W332*	NM_001128213.1	NP_001121685	1	2	3	2.176613	Q8N9V3	WSDU1_HUMAN		9	1251	-			Q53TI9|Q8N6N8	Nonsense_Mutation	SNP	ENST00000409990.3	0	1	hg19	c.995G>A	CCDS2208.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.809114	0.97853	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	332;240;332;332;332	.	ENSP00000350866:W240X	W	-	2	0	0	WDSUB1	159821090	159821090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-3.965699	1	0.170000	NM_152528			68	68		229	228	1		1	1		0	0	48	0		1	9.995814e-01	0	2	0	40	0	68	229
BAZ2B	29994	broad.mit.edu	37	2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1107	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						TCAAAGCCCAAAACTTTACCA	0.423																																						ENST00000392783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(3319-3321)Ttg>Gtg		bromodomain adjacent to zinc finger domain, 2B							110.0	98.0	102.0					2																	160243016		1868	4124	5992	SO:0001583	missense	29994	0	0					g.chr2:160243016A>C	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.3319T>G	chr2.hg19:g.160243016A>C	ENSP00000376534:p.Leu1107Val	1					BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|AC008277.1_ENST00000420020.1_RNA	p.L1107V	NM_013450.2	NP_038478.2	1	2	3	2.176613	Q9UIF8	BAZ2B_HUMAN		22	3814	-			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	1	1	hg19	c.3319T>G	CCDS2209.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701099|3.701099	0.68501|0.68501	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.80824	.|-1.42;-1.37;-1.42;-1.39	6.08|6.08	4.95|4.95	0.65309|0.65309	6.08|6.08	4.95|4.95	0.65309|0.65309	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.29273	.|U	.|0.012630	D|D	0.86814|0.86814	0.6023|0.6023	M|M	0.76574|0.76574	2.34|2.34	0.47476|0.47476	D|D	0.999432|0.999432	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.87143|0.87143	0.2204|0.2204	5|10	.|0.87932	.|D	.|0	-5.2789|-5.2789	5.7051|5.7051	0.17903|0.17903	0.8223:0.0:0.1777:0.0|0.8223:0.0:0.1777:0.0	.|.	.|1071;1107	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	C|V	167|1071;1107;1073;1007	.|ENSP00000376533:L1071V;ENSP00000376534:L1107V;ENSP00000348087:L1073V;ENSP00000339670:L1007V	.|ENSP00000339670:L1007V	F|L	-|-	2|1	0|2	0|2	BAZ2B|BAZ2B	159951262|159951262	159951262|159951262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.021000|4.021000	0.57196|0.57196	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-20.000000	1	0.170000				136	133		415	403	1		1	1		0	0	128	0		1	9.999577e-01	0	17	0	30	0	136	415
BAZ2B	29994	broad.mit.edu	37	2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						TCATCATCATCTTCTTCTTCT	0.323																																						ENST00000392783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1948-1950)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							162.0	146.0	151.0					2																	160287620		1880	4110	5990	SO:0001583	missense	29994	0	0					g.chr2:160287620C>A	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.1948G>T	chr2.hg19:g.160287620C>A	ENSP00000376534:p.Asp650Tyr	1					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y	p.D650Y	NM_013450.2	NP_038478.2	1	2	3	2.176613	Q9UIF8	BAZ2B_HUMAN		10	2443	-			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	1	1	hg19	c.1948G>T	CCDS2209.2	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356178	0.41700	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.08984	3.03;3.03;3.03	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.197372	0.24031	U	0.042184	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.48141	0.568;0.568;0.365	T	0.01504	-1.1338	10	0.72032	D	0.01	-13.5492	17.2848	0.87138	0.0:1.0:0.0:0.0	.	454;648;650	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	Y	648;650;650	ENSP00000376533:D648Y;ENSP00000376534:D650Y;ENSP00000348087:D650Y	ENSP00000348087:D650Y	D	-	1	0	0	BAZ2B	159995866	159995866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.514000	0.84764	0.643000	0.83706	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	0	0	1		17	3	2	1		1	1	65		65	64	1	2.060000	-20.000000	1	0.170000				83	82		239	237	1		1	0		1	0	65	0		1	9.152302e-01	0	1	0	19	0	83	239
BAZ2B	29994	broad.mit.edu	37	2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						TGTGTTTTTACTGGGTTTACA	0.428																																						ENST00000392783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(1723-1725)Gta>Ata		bromodomain adjacent to zinc finger domain, 2B							212.0	200.0	204.0					2																	160289445		1928	4136	6064	SO:0001583	missense	29994	0	0					g.chr2:160289445C>T	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.1723G>A	chr2.hg19:g.160289445C>T	ENSP00000376534:p.Val575Ile	1					BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I	p.V575I	NM_013450.2	NP_038478.2	1	2	3	2.176613	Q9UIF8	BAZ2B_HUMAN		9	2218	-			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	1	1	hg19	c.1723G>A	CCDS2209.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.30|10.30|10.30	1.313359|1.313359|1.313359	0.23908|0.23908|0.23908	.|.|.	.|.|.	ENSG00000123636|ENSG00000123636|ENSG00000123636	ENST00000546335|ENST00000441143|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|.|T;T;T;D	.|.|0.85411	.|.|0.85;0.85;0.85;-1.98	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	.|.|.	.|.|0.605656	.|.|0.12140	.|.|U	.|.|0.495959	.|T|T	.|0.75466|0.75466	.|0.3853|0.3853	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|.|P;B;B;B;B	.|.|0.46859	.|.|0.885;0.0;0.0;0.0;0.0	.|.|P;B;B;B;B	.|.|0.47981	.|.|0.563;0.002;0.002;0.003;0.001	.|T|T	.|0.61879|0.61879	.|-0.6972|-0.6972	.|5|10	.|.|0.20046	.|.|T	.|.|0.44	.|-1.6543|-1.6543	5.3963|5.3963|5.3963	0.16271|0.16271|0.16271	0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703	.|.|.	.|.|575;379;573;573;575	.|.|Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.|.|.;.;.;.;BAZ2B_HUMAN	.|N|I	-1|6|573;575;575;573	.|.|ENSP00000376533:V573I;ENSP00000376534:V575I;ENSP00000348087:V575I;ENSP00000339670:V573I	.|.|ENSP00000339670:V573I	.|S|V	-|-|-	.|2|1	.|0|0	.|0|0	BAZ2B|BAZ2B|BAZ2B	159997691|159997691|159997691	159997691|159997691|159997691	0.850000|0.850000|0.850000	0.29656|0.29656|0.29656	0.004000|0.004000|0.004000	0.12327|0.12327|0.12327	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	1.138000|1.138000|1.138000	0.31491|0.31491|0.31491	0.347000|0.347000|0.347000	0.23924|0.23924|0.23924	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|AGT|GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1		2	2	2	0		0	0	153		153	152	1	2.060000	-20.000000	1	0.170000				183	183		523	508	1		1	1		0	0	153	0		1	9.999055e-01	0	20	0	21	0	183	523
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						tctAGATCATCTGAATCACTG	0.373																																						ENST00000392783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(796-798)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							308.0	274.0	285.0					2																	160295624		1932	4144	6076	SO:0001583	missense	29994	0	0					g.chr2:160295624C>A	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.796G>T	chr2.hg19:g.160295624C>A	ENSP00000376534:p.Asp266Tyr	1					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y	p.D266Y	NM_013450.2	NP_038478.2	1	2	3	2.176613	Q9UIF8	BAZ2B_HUMAN		7	1291	-			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	1	1	hg19	c.796G>T	CCDS2209.2	1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548459	0.65311	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Y	264;266;266;264;203	ENSP00000376533:D264Y;ENSP00000376534:D266Y;ENSP00000348087:D266Y;ENSP00000339670:D264Y	ENSP00000339670:D264Y	D	-	1	0	0	BAZ2B	160003870	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000				120	119		604	589	1		1	1		0	0	140	0		1	9.628881e-01	0	6	0	23	0	120	604
BAZ2B	29994	broad.mit.edu	37	2	160304770	160304770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160304770C>T	ENST00000392783.2	-	5	980	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	162	Ser-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)			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						GGGACCATTTCGATTACTTTT	0.353																																						ENST00000392783.2	0.750000	0.260000	6.100000e-01	3.500000e-01	0.470000	0.489175	0.470000	0.450000																										0				82						c.(484-486)cGa>cAa		bromodomain adjacent to zinc finger domain, 2B							115.0	107.0	109.0					2																	160304770		1850	4092	5942	SO:0001583	missense	29994	1	120798	33				g.chr2:160304770C>T	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.485G>A	chr2.hg19:g.160304770C>T	ENSP00000376534:p.Arg162Gln	1					BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q	p.R162Q	NM_013450.2	NP_038478.2	1	2	3	2.176613	Q9UIF8	BAZ2B_HUMAN		5	980	-			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	1	1	hg19	c.485G>A	CCDS2209.2	0	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735337	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.27289	U	0.020046	T	0.29423	0.0733	L	0.48362	1.52	0.37592	D	0.920207	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998;0.997	D;D;D;D;D;D	0.83275	0.975;0.996;0.975;0.986;0.986;0.968	T	0.01045	-1.1470	10	0.44086	T	0.13	-6.2343	19.7803	0.96413	0.0:1.0:0.0:0.0	.	160;99;162;160;160;162	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	160;162;162;160;99	ENSP00000376533:R160Q;ENSP00000376534:R162Q;ENSP00000348087:R162Q;ENSP00000339670:R160Q	ENSP00000339670:R160Q	R	-	2	0	0	BAZ2B	160013016	160013016	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.437000	0.52863	2.686000	0.91538	0.555000	0.69702	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.128364	1	0.170000				13	13		347	340	0		1	1		0	0	69	0		9.994936e-01	4.149579e-01	0	2	0	35	0	13	347
MYCN	4613	broad.mit.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					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)			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)			CATCACTGTGCGTCCCAAGAA	0.582			A		neuroblastoma																																	ENST00000281043.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p24.1	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""				O	O			neuroblastoma		0				31						c.(904-906)Cgt>Tgt		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog		C	CYS/ARG	0,4406		0,0,2203	103.0	83.0	90.0		904	4.1	0.9	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCN	NM_005378.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/465	16085728	1,13005	2203	4300	6503	SO:0001583	missense	4613	3	121412	37				g.chr2:16085728C>T	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.904C>T	chr2.hg19:g.16085728C>T	ENSP00000281043:p.Arg302Cys	1						p.R302C	NM_005378.4	NP_005369.2	1	2	3	2.183349	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)	3	1201	+	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)		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	1	1	hg19	c.904C>T	CCDS1687.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	0	MYCN	16003179	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-19.610640	1	0.170000	NM_005378			36	36		181	174	1		1	0		0	0	51	0		1	0	0	0	0	1	0	36	181
PLA2R1	22925	broad.mit.edu	37	2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	913	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)		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						AAAGCCACATCTCTGGCTCTG	0.363																																						ENST00000283243.7	1.000000	0.590000	1	7.400000e-01	0.910000	0.887252	0.910000	1.000000																									PLA2R1/RBMS1(2)	0				60						c.(2737-2739)aGa>aAa		phospholipase A2 receptor 1, 180kDa							116.0	111.0	113.0					2																	160825793		2203	4300	6503	SO:0001583	missense	22925	0	0					g.chr2:160825793C>T	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.2738G>A	chr2.hg19:g.160825793C>T	ENSP00000283243:p.Arg913Lys	1					PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	1	2	3	2.176613	Q13018	PLA2R_HUMAN		19	2944	-			B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	1	1	hg19	c.2738G>A	CCDS33309.1	1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735320	0.48939	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17370	2.28;2.28	5.8	4.91	0.64330	5.8	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.114213	0.64402	D	0.000014	T	0.12347	0.0300	L	0.43757	1.38	0.30810	N	0.738909	B;B;B	0.24618	0.037;0.107;0.051	B;B;B	0.27608	0.038;0.028;0.081	T	0.23084	-1.0198	10	0.05525	T	0.97	.	8.1578	0.31180	0.0:0.7566:0.1605:0.083	.	913;913;913	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	913	ENSP00000283243:R913K;ENSP00000376524:R913K	ENSP00000283243:R913K	R	-	2	0	0	PLA2R1	160534039	160534039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.503000	0.35715	1.415000	0.47037	0.650000	0.86243	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000				21	21		273	269	0		1	0		0	0	42	0		9.999976e-01	5.309578e-01	0	0	0	24	0	21	273
ITGB6	3694	broad.mit.edu	37	2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000283249.2	-	6	1127	c.890G>T	c.(889-891)aGc>aTc	p.S297I	ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	297	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTCTTGCTGTCCAAGTG	0.448																																						ENST00000283249.2	0.520000	0.200000	4.300000e-01	2.700000e-01	0.340000	0.355990	0.340000	0.330000																										0				23						c.(889-891)aGc>aTc		integrin, beta 6							154.0	139.0	144.0					2																	161029111		2203	4300	6503	SO:0001583	missense	3694	0	0					g.chr2:161029111C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.890G>T	chr2.hg19:g.161029111C>A	ENSP00000283249:p.Ser297Ile	1					ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I	p.S297I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	1	2	3	2.176613	P18564	ITB6_HUMAN		6	1127	-			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	1	1	hg19	c.890G>T	CCDS2212.1	0	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566658	0.45694	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.49	2.16	0.27623	5.49	2.16	0.27623	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.596265	0.20136	N	0.098493	D	0.95714	0.8606	L	0.58101	1.795	0.24406	N	0.994683	P;P	0.42337	0.776;0.776	B;B	0.41813	0.367;0.257	D	0.90379	0.4386	10	0.52906	T	0.07	.	8.6805	0.34205	0.0:0.5591:0.0:0.4409	.	255;297	E9PEE8;P18564	.;ITB6_HUMAN	I	297;255;297;297	ENSP00000283249:S297I;ENSP00000408024:S255I;ENSP00000386828:S297I;ENSP00000386367:S297I	ENSP00000283249:S297I	S	-	2	0	0	ITGB6	160737357	160737357	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	0.172000	0.16704	0.181000	0.19994	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.030632	1	0.170000	NM_000888			18	17		658	649	0		1	1		0	0	124	0		9.999793e-01	9.618384e-01	0	13	0	186	0	18	658
RBMS1	5937	broad.mit.edu	37	2	161174693	161174693	+	Silent	SNP	C	C	T	rs1430	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161174693C>T	ENST00000348849.3	-	3	727	c.297G>A	c.(295-297)acG>acA	p.T99T	RBMS1_ENST00000409075.1_Silent_p.T66T|RBMS1_ENST00000409972.1_Silent_p.T66T|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Silent_p.T99T|RBMS1_ENST00000409289.2_Silent_p.T66T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	99	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TGCATTTGTTCGTTGTCTTAT	0.284													c|||	1308	0.261182	0.1195	0.2104	5008	,	,		14319	0.5308		0.3032	False		,,,				2504	0.1677					ENST00000348849.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLA2R1/RBMS1(2)	0										c.(295-297)acG>acA		RNA binding motif, single stranded interacting protein 1		T	,	663,3743	277.2+/-273.6	48,567,1588	118.0	112.0	114.0		297,297	-12.1	0.1	2	dbSNP_36	114	2494,6104	408.8+/-349.6	380,1734,2185	no	coding-synonymous,coding-synonymous	RBMS1	NM_002897.4,NM_016836.3	,	428,2301,3773	TT,TC,CC		29.0067,15.0477,24.2771	,	99/404,99/407	161174693	3157,9847	2203	4299	6502	SO:0001819	synonymous_variant	5937	34252	121396	76				g.chr2:161174693C>T	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.297G>A	chr2.hg19:g.161174693C>T		1					RBMS1_ENST00000409075.1_Silent_p.T66T|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Silent_p.T99T|RBMS1_ENST00000409289.2_Silent_p.T66T|RBMS1_ENST00000409972.1_Silent_p.T66T	p.T99T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	1	2	3	2.176613	P29558	RBMS1_HUMAN		3	727	-			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	ENST00000348849.3	1	0	hg19	c.297G>A	CCDS2213.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	0	0	1		2	2	2	0		0	0	34		34	32	1	2.060000	-0.436397	0	0.170000	NM_016836			57	53		208	200	1		1	1		0	0	34	0		1	1	0	31	0	118	0	57	208
RBMS1	5937	broad.mit.edu	37	2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TGGTCGGTGGTGTGGGGAGGC	0.453																																						ENST00000348849.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLA2R1/RBMS1(2)	0										c.(217-219)Acc>Gcc		RNA binding motif, single stranded interacting protein 1							127.0	118.0	121.0					2																	161223761		2203	4300	6503	SO:0001583	missense	5937	0	0					g.chr2:161223761T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.217A>G	chr2.hg19:g.161223761T>C	ENSP00000294904:p.Thr73Ala	1					RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A	p.T73A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	1	2	3	2.176613	P29558	RBMS1_HUMAN		2	647	-			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	1	1	hg19	c.217A>G	CCDS2213.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.202186	0.94997	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.62	5.62	0.85841	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.38692	1.165	0.80722	D	1	D;P;D;D;D;D	0.64830	0.994;0.938;0.99;0.97;0.973;0.987	D;P;D;D;P;D	0.73380	0.968;0.826;0.98;0.928;0.908;0.932	T	0.03403	-1.1040	10	0.72032	D	0.01	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	40;73;73;40;40;73	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	A	73;40;40;73;40;40	ENSP00000294904:T73A;ENSP00000386347:T40A;ENSP00000386571:T40A;ENSP00000376508:T73A;ENSP00000387280:T40A;ENSP00000389016:T40A	ENSP00000294904:T73A	T	-	1	0	0	RBMS1	160932007	160932007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.255000	0.74692	0.533000	0.62120	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_016836			129	124		375	352	1		1	1		0	0	101	0		1	1	0	21	0	88	0	129	375
TBR1	10716	broad.mit.edu	37	2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	35					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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468																																						ENST00000389554.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(103-105)Cac>Tac		T-box, brain, 1							67.0	69.0	69.0					2																	162273024		2203	4300	6503	SO:0001583	missense	10716	0	0					g.chr2:162273024C>T	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.103C>T	chr2.hg19:g.162273024C>T	ENSP00000374205:p.His35Tyr	1					TBR1_ENST00000410035.1_5'Flank	p.H35Y	NM_006593.2	NP_006584.1	1	2	3	2.176613	Q16650	TBR1_HUMAN		1	420	+			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	1	1	hg19	c.103C>T	CCDS33310.1	1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518173	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86497	-2.13	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.346719	0.30446	N	0.009620	T	0.79528	0.4461	L	0.29908	0.895	0.80722	D	1	P	0.35745	0.518	B	0.23150	0.044	T	0.81409	-0.0946	10	0.59425	D	0.04	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	35	Q16650	TBR1_HUMAN	Y	35	ENSP00000374205:H35Y	ENSP00000374205:H35Y	H	+	1	0	0	TBR1	161981270	161981270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.688000	0.91661	0.655000	0.94253	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_006593			65	62		308	300	1		1			0	0	54	0		1	0	0	0	0	0	0	65	308
TBR1	10716	broad.mit.edu	37	2	162273383	162273383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154					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.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672																																						ENST00000389554.3	0.720000	0.400000	6.400000e-01	4.700000e-01	0.550000	0.565218	0.550000	0.550000																										1	Substitution - coding silent(1)	p.N154N(1)	ovary(1)	30						c.(460-462)aaC>aaT		T-box, brain, 1							66.0	69.0	68.0					2																	162273383		2203	4300	6503	SO:0001819	synonymous_variant	10716	2	121410	37				g.chr2:162273383C>T	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.462C>T	chr2.hg19:g.162273383C>T		1					TBR1_ENST00000410035.1_5'Flank	p.N154N	NM_006593.2	NP_006584.1	1	2	3	2.176613	Q16650	TBR1_HUMAN		1	779	+			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	1	1	hg19	c.462C>T	CCDS33310.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	1	0	1		2	2	2	0		0	0	99		99	91	1	2.060000	-3.220113	1	0.170000	NM_006593			44	44		967	944	0		1			0	0	99	0		1	0	0	0	0	0	0	44	967
SLC4A10	57282	broad.mit.edu	37	2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000446997.1	+	20	2716	c.2623G>C	c.(2623-2625)Gtg>Ctg	p.V875L	SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	875					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)			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)	GCCATGGTTTGTGGCTGCCAC	0.473																																						ENST00000446997.1	1.000000	0.360000	1	5.400000e-01	0.760000	0.763865	0.760000	1.000000																										0				60						c.(2623-2625)Gtg>Ctg		solute carrier family 4, sodium bicarbonate transporter, member 10	Sodium bicarbonate(DB01390)						31.0	36.0	35.0					2																	162813580		2186	4297	6483	SO:0001583	missense	57282	0	0					g.chr2:162813580G>C		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.2623G>C	chr2.hg19:g.162813580G>C	ENSP00000393066:p.Val875Leu	1					SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L	p.V875L	NM_001178015.1	NP_001171486.1	1	2	3	2.176613	Q6U841	S4A10_HUMAN		20	2716	+			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	0	1	hg19	c.2623G>C	CCDS54411.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.168728	0.94768	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	5.39	5.39	0.77823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.91090	3.175	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	0.93657	0.6978	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	856;845;875	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	856;845;845;844;875;875;874	ENSP00000364664:V856L;ENSP00000395797:V845L;ENSP00000272716:V845L;ENSP00000393066:V875L;ENSP00000404486:V875L	ENSP00000272716:V845L	V	+	1	0	0	SLC4A10	162521826	162521826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-11.962240	1	0.170000	NM_022058			8	8		130	128	0		1			0	0	11	0		9.894307e-01	0	0	0	0	0	0	8	130
SLC4A10	57282	broad.mit.edu	37	2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000446997.1	+	25	3345	c.3252A>G	c.(3250-3252)atA>atG	p.I1084M	SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1084					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)			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)	TGATCAATATATCTGATGAAA	0.358																																						ENST00000446997.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				60						c.(3250-3252)atA>atG		solute carrier family 4, sodium bicarbonate transporter, member 10	Sodium bicarbonate(DB01390)						55.0	52.0	53.0					2																	162833294		1837	4080	5917	SO:0001583	missense	57282	0	0					g.chr2:162833294A>G		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.3252A>G	chr2.hg19:g.162833294A>G	ENSP00000393066:p.Ile1084Met	1					SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M	p.I1084M	NM_001178015.1	NP_001171486.1	1	2	3	2.176613	Q6U841	S4A10_HUMAN		25	3345	+			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	1	1	hg19	c.3252A>G	CCDS54411.1	1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669050	0.67814	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	D;D;D;D	0.83163	-1.67;-1.65;-1.66;-1.69	6.03	3.61	0.41365	6.03	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.92317	3.295	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.977	D	0.90605	0.4547	10	0.87932	D	0	.	8.317	0.32106	0.1205:0.0646:0.0:0.815	.	1065;1054;1084	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	M	1065;1054;1054;1053;1084;1083	ENSP00000364664:I1065M;ENSP00000395797:I1054M;ENSP00000272716:I1054M;ENSP00000393066:I1084M	ENSP00000272716:I1054M	I	+	3	3	3	SLC4A10	162541540	162541540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.808000	0.38912	0.508000	0.28173	-0.302000	0.09304	ATA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_022058			14	13		42	42	1		1	0		0	0	11	0		9.998664e-01	3.846835e-01	0	0	0	5	0	14	42
SLC4A10	57282	broad.mit.edu	37	2	162833344	162833344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833344C>T	ENST00000446997.1	+	25	3395	c.3302C>T	c.(3301-3303)gCc>gTc	p.A1101V	SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V|SLC4A10_ENST00000375514.5_Missense_Mutation_p.A1082V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1101					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)			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)	CTGATTACTGCCGATAACTCA	0.343																																						ENST00000446997.1	1.000000	0.430000	1	7.100000e-01	0.990000	0.897724	0.990000	1.000000																										0				60						c.(3301-3303)gCc>gTc		solute carrier family 4, sodium bicarbonate transporter, member 10	Sodium bicarbonate(DB01390)						57.0	53.0	54.0					2																	162833344		1833	4086	5919	SO:0001583	missense	57282	0	0					g.chr2:162833344C>T		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.3302C>T	chr2.hg19:g.162833344C>T	ENSP00000393066:p.Ala1101Val	1					SLC4A10_ENST00000375514.5_Missense_Mutation_p.A1082V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V	p.A1101V	NM_001178015.1	NP_001171486.1	1	2	3	2.176613	Q6U841	S4A10_HUMAN		25	3395	+			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	0	1	hg19	c.3302C>T	CCDS54411.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951059	0.53186	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79554	-1.28;-1.27;-1.27;-1.28	6.03	5.15	0.70609	6.03	5.15	0.70609	.	0.288336	0.35291	N	0.003310	T	0.70692	0.3253	N	0.22421	0.69	0.30656	N	0.75494	B;B;B	0.26512	0.053;0.053;0.151	B;B;B	0.28916	0.096;0.096;0.06	T	0.67166	-0.5739	10	0.27785	T	0.31	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	1082;1071;1101	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	1082;1071;1071;1070;1101;1100	ENSP00000364664:A1082V;ENSP00000395797:A1071V;ENSP00000272716:A1071V;ENSP00000393066:A1101V	ENSP00000272716:A1071V	A	+	2	0	0	SLC4A10	162541590	162541590	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	3.943000	0.56621	1.547000	0.49401	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	0	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-9.717433	1	0.170000	NM_022058			5	5		56	53	0		1	0		0	0	11	0		9.317955e-01	2.868590e-02	0	0	0	3	0	5	56
SLC4A10	57282	broad.mit.edu	37	2	162834231	162834231	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000446997.1	+	26	3437		c.e26-1		SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000375514.5_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			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)	TTTGTCATAAGCTCCCCTTCC	0.328																																						ENST00000446997.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.e26-1		solute carrier family 4, sodium bicarbonate transporter, member 10	Sodium bicarbonate(DB01390)						74.0	69.0	70.0					2																	162834231		1803	4061	5864	SO:0001630	splice_region_variant	57282	0	0					g.chr2:162834231G>A		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.3345-1G>A	chr2.hg19:g.162834231G>A		1					SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000272716.5_Intron		NM_001178015.1	NP_001171486.1	1	2	3	2.176613	Q6U841	S4A10_HUMAN		26	3437	+			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Splice_Site	SNP	ENST00000446997.1	1	1	hg19		CCDS54411.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343284	0.82022	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.415	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SLC4A10	162542477	162542477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.600000	0.87896	0.650000	0.86243	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_022058	Intron		66	65		387	382	1		1			0	0	73	0		1	0	0	0	0	0	0	66	387
DPP4	1803	broad.mit.edu	37	2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	677					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAGGTTGTCTTCTGGAGTTGG	0.318																																						ENST00000360534.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2029-2031)gAa>gCa		dipeptidyl-peptidase 4	Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)						105.0	99.0	101.0					2																	162862277		2203	4300	6503	SO:0001583	missense	1803	0	0					g.chr2:162862277T>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2030A>C	chr2.hg19:g.162862277T>G	ENSP00000353731:p.Glu677Ala	1					DPP4_ENST00000491591.1_5'UTR	p.E677A	NM_001935.3	NP_001926.2	1	2	3	2.176613	P27487	DPP4_HUMAN		23	2590	-			Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	1	1	hg19	c.2030A>C	CCDS2216.1	1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942857	0.34283	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.99	5.99	0.97316	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.560335	0.20171	N	0.097723	T	0.20292	0.0488	N	0.16790	0.44	0.35475	D	0.797671	B	0.06786	0.001	B	0.12837	0.008	T	0.21075	-1.0256	10	0.27082	T	0.32	-27.9427	12.3179	0.54969	0.0:0.0674:0.0:0.9326	.	677	P27487	DPP4_HUMAN	A	677	ENSP00000353731:E677A	ENSP00000353731:E677A	E	-	2	0	0	DPP4	162570523	162570523	0.941000	0.31946	1.000000	0.80357	0.884000	0.51177	0.838000	0.27572	2.296000	0.77279	0.533000	0.62120	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2	1	0	1		2	2	2	0		0	0	35		35	32	1	2.060000	-18.586400	1	0.170000				30	30		131	129	1		1	1		0	0	35	0		1	9.885504e-01	0	18	0	16	0	30	131
DPP4	1803	broad.mit.edu	37	2	162865071	162865071	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATTACATACCATAGTACTC	0.478																																						ENST00000360534.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.e22+1		dipeptidyl-peptidase 4	Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)						79.0	75.0	76.0					2																	162865071		2203	4300	6503	SO:0001630	splice_region_variant	1803	0	0					g.chr2:162865071C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1987+1G>A	chr2.hg19:g.162865071C>T		1					DPP4_ENST00000491591.1_Splice_Site		NM_001935.3	NP_001926.2	1	2	3	2.176613	P27487	DPP4_HUMAN		22	2548	-			Q53TN1	Splice_Site	SNP	ENST00000360534.3	1	1	hg19		CCDS2216.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018506	0.93404	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DPP4	162573317	162573317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000		Intron		76	76		254	249	1		1			0	0	82	0		1	0	0	0	0	0	0	76	254
GCG	2641	broad.mit.edu	37	2	163003925	163003925	+	Silent	SNP	C	C	T	rs375447933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	64					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGTCCAGATACTTGCTGTAGT	0.483																																						ENST00000418842.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(190-192)aaG>aaA		glucagon							243.0	240.0	241.0					2																	163003925		2022	4190	6212	SO:0001819	synonymous_variant	2641	0	0					g.chr2:163003925C>T		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.192G>A	chr2.hg19:g.163003925C>T		1					GCG_ENST00000375497.3_Silent_p.K64K	p.K64K	NM_002054.4	NP_002045.1	1	2	3	2.176613	P01275	GLUC_HUMAN		3	446	-			A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	1	1	hg19	c.192G>A	CCDS46439.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	1	0	1		2	2	2	0		0	0	199		199	198	1	2.060000	-20.000000	1	0.170000	NM_002054			290	286		805	793	0		1	0		0	0	199	0		1	1	0	1	0	2554	0	290	805
FAP	2191	broad.mit.edu	37	2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											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						GTTATCTGCAGATTGATGAAG	0.299																																						ENST00000188790.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(211-213)tCt>tTt		fibroblast activation protein, alpha							122.0	127.0	126.0					2																	163082066		2199	4298	6497	SO:0001583	missense	2191	0	0					g.chr2:163082066G>A	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.212C>T	chr2.hg19:g.163082066G>A	ENSP00000188790:p.Ser71Phe	1					FAP_ENST00000443424.1_Missense_Mutation_p.S71F	p.S71F	NM_004460.2	NP_004451.2	1	2	3	2.176613				4	419	-				Missense_Mutation	SNP	ENST00000188790.4	1	1	hg19	c.212C>T	CCDS33311.1	1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074541	0.55646	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96104	-3.91;1.28	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.496726	0.21739	N	0.069855	D	0.95529	0.8547	M	0.63428	1.95	0.33629	D	0.605844	P;P;P	0.52170	0.732;0.951;0.92	B;P;B	0.49708	0.321;0.62;0.402	D	0.98556	1.0639	10	0.72032	D	0.01	-1.1315	14.4727	0.67526	0.0:0.0:0.8538:0.1462	.	71;71;71	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	71;71;50	ENSP00000188790:S71F;ENSP00000411391:S71F	ENSP00000188790:S71F	S	-	2	0	0	FAP	162790312	162790312	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.750000	0.55157	2.675000	0.91044	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				53	52		174	170	1		1	0		0	0	49	0		1	1	0	0	0	175	0	53	174
IFIH1	64135	broad.mit.edu	37	2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	904					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363																																						ENST00000263642.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2710-2712)Act>Gct		interferon induced with helicase C domain 1							130.0	136.0	134.0					2																	163124694		2203	4300	6503	SO:0001583	missense	64135	0	0					g.chr2:163124694T>C	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2710A>G	chr2.hg19:g.163124694T>C	ENSP00000263642:p.Thr904Ala	1						p.T904A	NM_022168.3	NP_071451.2	1	2	3	2.176613	Q9BYX4	IFIH1_HUMAN		14	3105	-			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	1	1	hg19	c.2710A>G	CCDS2217.1	1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034499	0.35893	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43688	0.94	5.31	5.31	0.75309	5.31	5.31	0.75309	C-terminal domain of RIG-I (1);	0.350310	0.35291	N	0.003313	T	0.39489	0.1080	M	0.62723	1.935	0.41933	D	0.990576	B	0.27765	0.188	B	0.24006	0.05	T	0.27400	-1.0075	10	0.13470	T	0.59	-0.9591	15.2788	0.73764	0.0:0.0:0.0:1.0	.	904	Q9BYX4	IFIH1_HUMAN	A	904	ENSP00000263642:T904A	ENSP00000263642:T904A	T	-	1	0	0	IFIH1	162832940	162832940	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.717000	0.68446	2.013000	0.59113	0.528000	0.53228	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_022168			63	62		250	244	1		1	1		0	0	55	0		1	1	0	91	0	163	0	63	250
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	G	A	rs35677292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17234	0.0		0.001	False		,,,				2504	0.0					ENST00000263642.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2359-2361)atC>atT		interferon induced with helicase C domain 1		G		1,4405	2.1+/-5.4	0,1,2202	140.0	130.0	133.0		2361	1.3	1.0	2	dbSNP_126	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IFIH1	NM_022168.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		787/1026	163130398	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64135	15	121396	44				g.chr2:163130398G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2361C>T	chr2.hg19:g.163130398G>A		1						p.I787I	NM_022168.3	NP_071451.2	1	2	3	2.176613	Q9BYX4	IFIH1_HUMAN		12	2756	-			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	1	1	hg19	c.2361C>T	CCDS2217.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_022168			74	70		395	382	1		1	1		0	0	76	0		1	1	0	34	0	207	0	74	395
IFIH1	64135	broad.mit.edu	37	2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T	rs200945986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	598				R -> S (in Ref. 2; AAG54076). {ECO:0000305}.	cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21117	0.0		0.0	False		,,,				2504	0.0					ENST00000263642.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1792-1794)cGt>cAt		interferon induced with helicase C domain 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	100.0	102.0		1793	5.7	1.0	2		102	0,8596		0,0,4298	no	missense	IFIH1	NM_022168.2	29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	598/1026	163134176	2,13000	2203	4298	6501	SO:0001583	missense	64135	10	121374	45				g.chr2:163134176C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1793G>A	chr2.hg19:g.163134176C>T	ENSP00000263642:p.Arg598His	1						p.R598H	NM_022168.3	NP_071451.2	1	2	3	2.176613	Q9BYX4	IFIH1_HUMAN		10	2188	-			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	1	1	hg19	c.1793G>A	CCDS2217.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.05	3.537964	0.65085	4.54E-4	0.0	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06294	3.32	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.048663	0.85682	D	0.000000	T	0.08492	0.0211	M	0.78916	2.43	0.54753	D	0.999983	P	0.39964	0.697	B	0.28991	0.097	T	0.03761	-1.1006	10	0.42905	T	0.14	-13.7346	10.2205	0.43194	0.0:0.8533:0.0:0.1467	.	598	Q9BYX4	IFIH1_HUMAN	H	598	ENSP00000263642:R598H	ENSP00000263642:R598H	R	-	2	0	0	IFIH1	162842422	162842422	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.782000	0.62396	2.665000	0.90641	0.563000	0.77884	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_022168			54	54		260	257	1		1	1		0	0	57	0		1	1	0	33	0	186	0	54	260
IFIH1	64135	broad.mit.edu	37	2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	47	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562																																						ENST00000263642.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(139-141)Cag>Tag		interferon induced with helicase C domain 1							75.0	69.0	71.0					2																	163174679		2203	4300	6503	SO:0001587	stop_gained	64135	0	0					g.chr2:163174679G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.139C>T	chr2.hg19:g.163174679G>A	ENSP00000263642:p.Gln47*	1					GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	p.Q47*	NM_022168.3	NP_071451.2	1	2	3	2.176613	Q9BYX4	IFIH1_HUMAN		1	534	-			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Nonsense_Mutation	SNP	ENST00000263642.2	0	1	hg19	c.139C>T	CCDS2217.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.112797	0.98070	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	.	.	.	5.73	2.7	0.31948	5.73	2.7	0.31948	.	1.140500	0.06335	N	0.706983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.5357	9.8127	0.40833	0.0:0.2537:0.4844:0.2619	.	.	.	.	X	47	.	ENSP00000263642:Q47X	Q	-	1	0	0	IFIH1	162882925	162882925	0.023000	0.18921	0.099000	0.21106	0.515000	0.34225	1.142000	0.31540	0.713000	0.32060	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_022168			83	81		237	234	0		1	1		0	0	70	0		1	1	0	37	0	92	0	83	237
KCNH7	90134	broad.mit.edu	37	2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	789					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)			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)	AATTTCAATGGAGCCTCTGGA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(2365-2367)tCc>tAc		potassium voltage-gated channel, subfamily H (eag-related), member 7	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						111.0	112.0	112.0					2																	163256740		2203	4300	6503	SO:0001583	missense	90134	0	0					g.chr2:163256740G>T	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.2366C>A	chr2.hg19:g.163256740G>T	ENSP00000331727:p.Ser789Tyr	1						p.S789Y	NM_033272.3	NP_150375.2	1	2	3	2.176613	Q9NS40	KCNH7_HUMAN		10	2465	-			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	1	1	hg19	c.2366C>A	CCDS2219.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635925	0.87760	.	.	ENSG00000184611	ENST00000332142	D	0.92965	-3.14	5.82	5.82	0.92795	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96840	0.9617	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	789	Q9NS40	KCNH7_HUMAN	Y	789	ENSP00000331727:S789Y	ENSP00000331727:S789Y	S	-	2	0	0	KCNH7	162964986	162964986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.018740	1	0.170000	NM_033272			88	88		486	479	1		1			0	0	110	0		1	0	0	0	0	0	0	88	486
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	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																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L700I(1)	large_intestine(1)	108						c.(2098-2100)Ctt>Ttt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						253.0	235.0	242.0					2																	163279902		2203	4300	6503	SO:0001583	missense	90134	0	0					g.chr2:163279902G>A	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>T	chr2.hg19:g.163279902G>A	ENSP00000331727:p.Leu700Phe	1					KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	p.L700F	NM_033272.3	NP_150375.2	1	2	3	2.176613	Q9NS40	KCNH7_HUMAN		9	2197	-			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	1	1	hg19	c.2098C>T	CCDS2219.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.206461	0.95033	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96913	-4.17;-4.17	5.95	5.95	0.96441	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98837	1.0753	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	700;693	ENSP00000331727:L700F;ENSP00000333781:L693F	ENSP00000333781:L693F	L	-	1	0	0	KCNH7	162988148	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	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_033272			262	256		717	704	1		1			0	0	177	0		1	0	0	0	0	0	0	262	717
KCNH7	90134	broad.mit.edu	37	2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T	rs373376905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	246					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.R246Q(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)	AGGGTAGAGTCGGTCCCATTG	0.478																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R246Q(1)	biliary_tract(1)	108						c.(736-738)cGa>cAa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	130.0	133.0		737,737	5.9	1.0	2		133	0,8600		0,0,4300	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	246/1197,246/733	163374395	1,13005	2203	4300	6503	SO:0001583	missense	90134	2	121406	41				g.chr2:163374395C>T	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.737G>A	chr2.hg19:g.163374395C>T	ENSP00000331727:p.Arg246Gln	1					KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q|KCNH7_ENST00000477019.1_5'UTR	p.R246Q	NM_033272.3	NP_150375.2	1	2	3	2.176613	Q9NS40	KCNH7_HUMAN		4	836	-			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	1	1	hg19	c.737G>A	CCDS2219.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096976	0.56075	2.27E-4	0.0	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98617	-5.03;-5.03	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.063150	0.64402	D	0.000004	D	0.95452	0.8523	N	0.19112	0.55	0.39103	D	0.961326	B;B	0.18461	0.01;0.028	B;B	0.12837	0.003;0.008	D	0.92969	0.6396	10	0.23891	T	0.37	.	13.4585	0.61212	0.0:0.9285:0.0:0.0715	.	246;246	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	246	ENSP00000331727:R246Q;ENSP00000333781:R246Q	ENSP00000333781:R246Q	R	-	2	0	0	KCNH7	163082641	163082641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.267000	0.43329	2.791000	0.96007	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-6.019816	1	0.170000	NM_033272			130	126		378	369	1		1			0	0	83	0		1	0	0	0	0	0	0	130	378
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	rs138091231	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				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)			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)	TGGAGAAAGTCGCAGGTGCAT	0.507													C|||	3	0.000599042	0.0	0.0043	5008	,	,		16479	0.0		0.0	False		,,,				2504	0.0				GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(199-201)Gac>Aac		potassium voltage-gated channel, subfamily H (eag-related), member 7	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	96.0	80.0	85.0		199,199	5.9	1.0	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	67/1197,67/733	163693155	1,13005	2203	4300	6503	SO:0001583	missense	90134	20	121412	43				g.chr2:163693155C>T	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.199G>A	chr2.hg19:g.163693155C>T	ENSP00000331727:p.Asp67Asn	1					KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	p.D67N	NM_033272.3	NP_150375.2	1	2	3	2.176613	Q9NS40	KCNH7_HUMAN		2	298	-			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	1	1	hg19	c.199G>A	CCDS2219.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.479148	0.96307	0.0	1.16E-4	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99563	-6.17;-6.17	5.87	5.87	0.94306	5.87	5.87	0.94306	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.42483	0.781;0.477	B;P	0.48270	0.307;0.572	D	0.99880	1.1112	10	0.52906	T	0.07	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	67;67	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	67	ENSP00000331727:D67N;ENSP00000333781:D67N	ENSP00000333781:D67N	D	-	1	0	0	KCNH7	163401401	163401401	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.913000	0.63341	2.785000	0.95823	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_033272			72	70		199	198	1		1			0	0	56	0		1	0	0	0	0	0	0	72	199
FIGN	55137	broad.mit.edu	37	2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A	rs372466697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	468					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532																																						ENST00000333129.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1402-1404)Ctc>Ttc		fidgetin							138.0	133.0	135.0					2																	164466940		2115	4227	6342	SO:0001583	missense	55137	0	0					g.chr2:164466940G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1402C>T	chr2.hg19:g.164466940G>A	ENSP00000333836:p.Leu468Phe	1					FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	p.L468F	NM_018086.2	NP_060556.2	1	2	3	2.176613	Q5HY92	FIGN_HUMAN		3	1716	-			B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	1	1	hg19	c.1402C>T	CCDS2221.2	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832114	0.32421	.	.	ENSG00000182263	ENST00000333129	D	0.93859	-3.3	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.70787	2.145	0.80722	D	1	B	0.25667	0.131	B	0.36808	0.233	D	0.92063	0.5658	10	0.72032	D	0.01	-5.8839	20.2723	0.98479	0.0:0.0:1.0:0.0	.	468	Q5HY92	FIGN_HUMAN	F	468	ENSP00000333836:L468F	ENSP00000333836:L468F	L	-	1	0	0	FIGN	164175186	164175186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.789000	0.69029	2.793000	0.96121	0.563000	0.77884	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.106553	1	0.170000	NM_018086			62	60		306	301	1		1	0		0	0	63	0		1	2.713021e-01	0	0	0	6	0	62	306
PXDN	7837	broad.mit.edu	37	2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1254					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)			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)		AACACCCCAGGGTTCTCATAC	0.567																																						ENST00000252804.4	0.740000	0.270000	6.100000e-01	3.600000e-01	0.470000	0.493083	0.470000	0.460000																										0				112						c.(3760-3762)Cct>Act		peroxidasin homolog (Drosophila)							48.0	52.0	51.0					2																	1647332		1968	4149	6117	SO:0001583	missense	7837	0	0					g.chr2:1647332G>T	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.3760C>A	chr2.hg19:g.1647332G>T	ENSP00000252804:p.Pro1254Thr	1						p.P1254T	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		19	3810	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.3760C>A	CCDS46221.1	0	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093020	0.76756	.	.	ENSG00000130508	ENST00000252804	T	0.75260	-0.92	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.202308	0.43110	D	0.000611	D	0.86855	0.6033	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.87931	0.2710	10	0.62326	D	0.03	-19.6271	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1254	Q92626	PXDN_HUMAN	T	1254	ENSP00000252804:P1254T	ENSP00000252804:P1254T	P	-	1	0	0	PXDN	1626339	1626339	1.000000	0.71417	0.991000	0.47740	0.472000	0.32918	7.737000	0.84957	2.525000	0.85131	0.563000	0.77884	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	0	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-13.970240	1	0.170000	XM_056455			14	14		369	365	0		1	0		0	0	75	0		9.997480e-01	9.744811e-01	0	0	0	163	0	14	369
PXDN	7837	broad.mit.edu	37	2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					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)			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)		CTCCCGGATCTCAGGGTTTTT	0.527																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(3586-3588)gAg>gCg		peroxidasin homolog (Drosophila)							109.0	119.0	116.0					2																	1651965		1977	4154	6131	SO:0001583	missense	7837	0	0					g.chr2:1651965T>G	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.3587A>C	chr2.hg19:g.1651965T>G	ENSP00000252804:p.Glu1196Ala	1						p.E1196A	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		17	3637	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.3587A>C	CCDS46221.1	1	.	.	.	.	.	.	.	.	.	.	T	8.883	0.952195	0.18431	.	.	ENSG00000130508	ENST00000252804	T	0.74632	-0.86	5.48	2.98	0.34508	5.48	2.98	0.34508	.	0.670381	0.15817	N	0.243172	T	0.67618	0.2912	L	0.48877	1.53	0.20563	N	0.999887	B	0.19445	0.036	B	0.32928	0.155	T	0.55503	-0.8131	10	0.26408	T	0.33	-25.6379	8.3858	0.32499	0.1346:0.0:0.1331:0.7322	.	1196	Q92626	PXDN_HUMAN	A	1196	ENSP00000252804:E1196A	ENSP00000252804:E1196A	E	-	2	0	0	PXDN	1630972	1630972	0.002000	0.14202	0.851000	0.33527	0.976000	0.68499	0.660000	0.25009	0.332000	0.23536	0.529000	0.55759	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	0		2	2	2	0		0	0	161		161	159	1	2.060000	-20.000000	1	0.170000	XM_056455			153	148		890	868	1		1	0		0	0	161	0		1	1	0	0	0	146	0	153	890
PXDN	7837	broad.mit.edu	37	2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1155					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)			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)		GTTGATGGCCGCCAGGTCCAG	0.642																																						ENST00000252804.4	1.000000	0.670000	1	7.800000e-01	0.900000	0.897531	0.900000	1.000000																										0				112						c.(3463-3465)gCg>gTg		peroxidasin homolog (Drosophila)							62.0	74.0	70.0					2																	1652088		2056	4219	6275	SO:0001583	missense	7837	1	121038	35				g.chr2:1652088G>A	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.3464C>T	chr2.hg19:g.1652088G>A	ENSP00000252804:p.Ala1155Val	1						p.A1155V	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		17	3514	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.3464C>T	CCDS46221.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030543	0.93575	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81395	-0.0952	10	0.45353	T	0.12	-31.4364	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1155	Q92626	PXDN_HUMAN	V	1155	ENSP00000252804:A1155V	ENSP00000252804:A1155V	A	-	2	0	0	PXDN	1631095	1631095	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.759000	0.98931	2.645000	0.89757	0.650000	0.86243	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-2.920853	1	0.170000	XM_056455			46	47		601	592	0		1	0		0	0	90	0		1	9.963906e-01	0	0	0	112	0	46	601
PXDN	7837	broad.mit.edu	37	2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	839					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)			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)		GGAGAAGCGTGCCTGGCTCAG	0.652																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(2515-2517)gCa>gTa		peroxidasin homolog (Drosophila)							39.0	42.0	41.0					2																	1653036		2196	4284	6480	SO:0001583	missense	7837	0	0					g.chr2:1653036G>A	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.2516C>T	chr2.hg19:g.1653036G>A	ENSP00000252804:p.Ala839Val	1						p.A839V	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		17	2566	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.2516C>T	CCDS46221.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351801	0.61183	.	.	ENSG00000130508	ENST00000252804	T	0.61392	0.11	5.18	4.28	0.50868	5.18	4.28	0.50868	.	0.128490	0.53938	D	0.000048	T	0.51075	0.1653	L	0.41027	1.25	0.53005	D	0.999967	B	0.19445	0.036	B	0.31614	0.133	T	0.42361	-0.9456	10	0.18276	T	0.48	-36.1755	15.2212	0.73313	0.0:0.0:0.8581:0.1419	.	839	Q92626	PXDN_HUMAN	V	839	ENSP00000252804:A839V	ENSP00000252804:A839V	A	-	2	0	0	PXDN	1632043	1632043	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.797000	0.85911	1.276000	0.44395	0.558000	0.71614	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	XM_056455			43	42		124	120	1		1	0		0	0	23	0		1	1	0	0	0	141	0	43	124
FIGN	55137	broad.mit.edu	37	2	164468186	164468186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	52					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507																																						ENST00000333129.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(154-156)taC>taT		fidgetin							132.0	132.0	132.0					2																	164468186		2044	4195	6239	SO:0001819	synonymous_variant	55137	1	120984	39				g.chr2:164468186G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.156C>T	chr2.hg19:g.164468186G>A		1					FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.Y52Y	NM_018086.2	NP_060556.2	1	2	3	2.176613	Q5HY92	FIGN_HUMAN		3	470	-			B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	1	1	hg19	c.156C>T	CCDS2221.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_018086			132	131		587	581	1		1	0		0	0	102	0		1	0	0	0	0	1	0	132	587
GRB14	2888	broad.mit.edu	37	2	165353553	165353553	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	449	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383																																						ENST00000263915.3	1.000000	0.390000	8.400000e-01	5.100000e-01	0.660000	0.680900	0.660000	1.000000																										0				32						c.(1345-1347)gcT>gcC		growth factor receptor-bound protein 14							86.0	81.0	83.0					2																	165353553		2203	4300	6503	SO:0001819	synonymous_variant	2888	0	0					g.chr2:165353553A>G		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.1347T>C	chr2.hg19:g.165353553A>G		1					GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	p.A449A	NM_004490.2	NP_004481.2	1	2	3	2.176613	Q14449	GRB14_HUMAN		12	1885	-			B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	1	1	hg19	c.1347T>C	CCDS2222.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-4.852597	1	0.170000				16	16		296	291	0		1	0		0	0	58	0		9.999304e-01	3.342050e-01	0	0	0	22	0	16	296
GRB14	2888	broad.mit.edu	37	2	165404219	165404219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	144	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)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428																																						ENST00000263915.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(430-432)atT>atC		growth factor receptor-bound protein 14							104.0	93.0	97.0					2																	165404219		2203	4300	6503	SO:0001819	synonymous_variant	2888	0	0					g.chr2:165404219A>G		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.432T>C	chr2.hg19:g.165404219A>G		1					GRB14_ENST00000543549.1_Silent_p.I57I	p.I144I	NM_004490.2	NP_004481.2	1	2	3	2.176613	Q14449	GRB14_HUMAN		3	970	-			B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	1	1	hg19	c.432T>C	CCDS2222.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				49	46		258	255	1		1	0		0	0	37	0		1	2.522772e-01	0	1	0	5	0	49	258
COBLL1	22837	broad.mit.edu	37	2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000392717.2	-	13	2726	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N	COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D832N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908						extracellular vesicular exosome (GO:0070062)				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						GTGCCAGTGTCTCTTGTCATT	0.448																																						ENST00000392717.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2722-2724)Gac>Aac		cordon-bleu WH2 repeat protein-like 1							94.0	90.0	92.0					2																	165551408		2203	4300	6503	SO:0001583	missense	22837	0	0					g.chr2:165551408C>T	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.2722G>A	chr2.hg19:g.165551408C>T	ENSP00000376478:p.Asp908Asn	1					COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D832N	p.D908N			1	2	3	2.176613	Q53SF7	COBL1_HUMAN		13	2726	-			A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	1	1	hg19	c.2722G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850455	0.32699	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	4.28	0.50868	6.17	4.28	0.50868	.	0.246856	0.36234	N	0.002708	T	0.50188	0.1601	L	0.60455	1.87	0.09310	N	0.999998	P;P;D	0.69078	0.834;0.834;0.997	B;B;D	0.64410	0.265;0.265;0.925	T	0.41106	-0.9527	9	0.31617	T	0.26	-9.929	4.2721	0.10792	0.2381:0.5568:0.1268:0.0783	.	908;937;870	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	832;870;870;908;937	.	ENSP00000194871:D937N	D	-	1	0	0	COBLL1	165259654	165259654	0.071000	0.21146	0.476000	0.27291	0.111000	0.19643	0.565000	0.23578	1.607000	0.50170	-0.211000	0.12701	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.143327	1	0.170000	NM_014900			85	85		479	470	1		1	1		0	0	75	0		1	9.999998e-01	0	8	0	117	0	85	479
SCN3A	6328	broad.mit.edu	37	2	166019220	166019220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000360093.3	-	8	1304	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	271					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTCAGATTGCCCATGAACA	0.473																																						ENST00000360093.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(811-813)ggC>ggT		sodium channel, voltage-gated, type III, alpha subunit	Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)						114.0	109.0	111.0					2																	166019220		2203	4300	6503	SO:0001819	synonymous_variant	6328	0	0					g.chr2:166019220G>A	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.813C>T	chr2.hg19:g.166019220G>A		1					SCN3A_ENST00000283254.7_Silent_p.G271G|SCN3A_ENST00000409101.3_Silent_p.G271G	p.G271G	NM_001081677.1	NP_001075146.1	1	2	3	2.176613	Q9NY46	SCN3A_HUMAN		8	1304	-			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	1	1	hg19	c.813C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_006922			121	116		339	332	1		1	0		0	0	79	0		1	6.984993e-02	0	0	0	2	0	121	339
SCN2A	6326	broad.mit.edu	37	2	166231251	166231251	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000357398.3_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1343					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTCTGGTTTGTCTGATCT	0.378																																						ENST00000375437.2	0.540000	0.210000	4.500000e-01	2.700000e-01	0.350000	0.369229	0.350000	0.360000																										0				118						c.(4027-4029)gtT>gtG		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)						162.0	153.0	156.0					2																	166231251		2203	4300	6503	SO:0001819	synonymous_variant	6326	0	0					g.chr2:166231251T>G	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.4029T>G	chr2.hg19:g.166231251T>G		1					SCN2A_ENST00000357398.3_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000283256.6_Silent_p.V1343V	p.V1343V	NM_001040142.1	NP_001035232.1	1	2	3	2.176613	Q99250	SCN2A_HUMAN		22	4319	+			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	1	1	hg19	c.4029T>G	CCDS33314.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-14.427330	1	0.170000	NM_021007			17	17		600	589	0		1			0	0	79	0		9.999597e-01	0	0	0	0	0	0	17	600
SCN2A	6326	broad.mit.edu	37	2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1409					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATAACGTAGGACTTGGATAT	0.348																																						ENST00000375437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(4225-4227)gGa>gTa		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)						52.0	51.0	51.0					2																	166231448		2203	4299	6502	SO:0001583	missense	6326	0	0					g.chr2:166231448G>T	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.4226G>T	chr2.hg19:g.166231448G>T	ENSP00000364586:p.Gly1409Val	1					SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V	p.G1409V	NM_001040142.1	NP_001035232.1	1	2	3	2.176613	Q99250	SCN2A_HUMAN		22	4516	+			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	1	1	hg19	c.4226G>T	CCDS33314.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091442	0.55968	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.67	4.67	0.58626	4.67	4.67	0.58626	Ion transport (1);	0.069003	0.56097	D	0.000037	D	0.98902	0.9628	H	0.95645	3.7	0.80722	D	1	D;P	0.60160	0.987;0.945	D;D	0.68765	0.96;0.933	D	0.99675	1.0997	10	0.87932	D	0	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1409;1409	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1409	ENSP00000364586:G1409V;ENSP00000349973:G1409V;ENSP00000283256:G1409V;ENSP00000364576:G1409V	ENSP00000283256:G1409V	G	+	2	0	0	SCN2A	165939694	165939694	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	7.885000	0.87282	2.291000	0.77112	0.655000	0.94253	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_021007			48	46		192	188	0		1	0		0	0	49	0		1	4.132092e-02	0	0	0	2	0	48	192
SCN2A	6326	broad.mit.edu	37	2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1546					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTAACATGGTCACCATGAT	0.373																																						ENST00000375437.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(4636-4638)Gtc>Atc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)						174.0	156.0	163.0					2																	166243340		2203	4300	6503	SO:0001583	missense	6326	0	0					g.chr2:166243340G>A	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.4636G>A	chr2.hg19:g.166243340G>A	ENSP00000364586:p.Val1546Ile	1					SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I	p.V1546I	NM_001040142.1	NP_001035232.1	1	2	3	2.176613	Q99250	SCN2A_HUMAN		26	4926	+			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	1	1	hg19	c.4636G>A	CCDS33314.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118074	0.56505	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.93913	0.8052	L	0.28776	0.89	0.80722	D	1	P;B	0.39216	0.664;0.009	B;B	0.35688	0.208;0.02	D	0.93458	0.6808	10	0.33940	T	0.23	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1546;1546	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1546	ENSP00000364586:V1546I;ENSP00000349973:V1546I;ENSP00000283256:V1546I;ENSP00000364576:V1546I	ENSP00000283256:V1546I	V	+	1	0	0	SCN2A	165951586	165951586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.418000	0.82041	0.650000	0.86243	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_021007			83	82		219	218	1		1			0	0	40	0		1	0	0	0	0	0	0	83	219
CSRNP3	80034	broad.mit.edu	37	2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000342316.4	+	5	1134	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	288					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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438																																						ENST00000342316.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(862-864)Ctg>Atg		cysteine-serine-rich nuclear protein 3							69.0	68.0	68.0					2																	166535367		2203	4300	6503	SO:0001583	missense	80034	0	0					g.chr2:166535367C>A	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.862C>A	chr2.hg19:g.166535367C>A	ENSP00000344042:p.Leu288Met	1					CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M	p.L288M	NM_024969.3	NP_079245.2	1	2	3	2.176613	Q8WYN3	CSRN3_HUMAN		5	1134	+			B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	1	1	hg19	c.862C>A	CCDS2225.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274116	0.40194	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.351845	0.29838	N	0.011074	T	0.13286	0.0322	N	0.08118	0	0.38413	D	0.945977	P	0.49447	0.924	P	0.47981	0.563	T	0.18085	-1.0348	10	0.31617	T	0.26	-9.333	14.4442	0.67338	0.0:0.853:0.147:0.0	.	288	Q8WYN3	CSRN3_HUMAN	M	288;295;288;288;320	ENSP00000412081:L288M;ENSP00000318258:L288M;ENSP00000344042:L288M;ENSP00000387195:L320M	ENSP00000318258:L288M	L	+	1	2	2	CSRNP3	166243613	166243613	0.956000	0.32656	0.998000	0.56505	0.943000	0.58893	1.839000	0.39220	2.683000	0.91414	0.650000	0.86243	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-9.413431	1	0.170000	NM_024969			113	112		257	253	1		1	0		0	0	60	0		1	4.843985e-01	0	1	0	4	0	113	257
PXDN	7837	broad.mit.edu	37	2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	509	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			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)		TTCTGGGAGCCGATGATGTTG	0.567																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(1525-1527)Ggc>Tgc		peroxidasin homolog (Drosophila)							89.0	96.0	93.0					2																	1667419		2032	4168	6200	SO:0001583	missense	7837	0	0					g.chr2:1667419C>A	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.1525G>T	chr2.hg19:g.1667419C>A	ENSP00000252804:p.Gly509Cys	1					PXDN_ENST00000483018.1_5'Flank	p.G509C	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		12	1575	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.1525G>T	CCDS46221.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012209	0.93346	.	.	ENSG00000130508	ENST00000252804	T	0.50813	0.73	5.79	5.79	0.91817	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111519	0.64402	D	0.000009	D	0.83949	0.5365	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90698	0.4618	10	0.87932	D	0	-55.7987	20.0263	0.97523	0.0:1.0:0.0:0.0	.	509;509	Q92626-2;Q92626	.;PXDN_HUMAN	C	509	ENSP00000252804:G509C	ENSP00000252804:G509C	G	-	1	0	0	PXDN	1646426	1646426	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.552000	0.82192	2.735000	0.93741	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.222132	1	0.170000	XM_056455			89	89		512	502	1		1	0		0	0	113	0		1	1	0	0	0	147	0	89	512
TTC21B	79809	broad.mit.edu	37	2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1211					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368																																						ENST00000243344.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3631-3633)Gca>Tca		tetratricopeptide repeat domain 21B							129.0	127.0	127.0					2																	166740357		2203	4300	6503	SO:0001583	missense	79809	0	0					g.chr2:166740357C>A	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.3631G>T	chr2.hg19:g.166740357C>A	ENSP00000243344:p.Ala1211Ser	1					TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	p.A1211S	NM_024753.4	NP_079029.3	1	2	3	2.176613	Q7Z4L5	TT21B_HUMAN		26	3768	-			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	1	1	hg19	c.3631G>T	CCDS33315.1	1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.668998	0.47677	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.36878	1.23;1.23	5.56	5.56	0.83823	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.157596	0.56097	D	0.000038	T	0.19287	0.0463	N	0.03999	-0.3	0.33236	D	0.556598	B	0.16166	0.016	B	0.14023	0.01	T	0.15636	-1.0430	10	0.22109	T	0.4	-9.5148	15.3142	0.74059	0.2025:0.7975:0.0:0.0	.	1211	Q7Z4L5	TT21B_HUMAN	S	149;1211	ENSP00000438692:A149S;ENSP00000243344:A1211S	ENSP00000243344:A1211S	A	-	1	0	0	TTC21B	166448603	166448603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.958000	0.56737	2.774000	0.95407	0.585000	0.79938	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_024753			77	76		303	299	1		1	1		0	0	65	0		1	9.905338e-01	0	5	0	26	0	77	303
TTC21B	79809	broad.mit.edu	37	2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	423					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303																																						ENST00000243344.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1267-1269)Ctg>Atg		tetratricopeptide repeat domain 21B							68.0	72.0	71.0					2																	166785764		2202	4299	6501	SO:0001583	missense	79809	0	0					g.chr2:166785764G>T	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.1267C>A	chr2.hg19:g.166785764G>T	ENSP00000243344:p.Leu423Met	1						p.L423M	NM_024753.4	NP_079029.3	1	2	3	2.176613	Q7Z4L5	TT21B_HUMAN		11	1404	-			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	1	1	hg19	c.1267C>A	CCDS33315.1	1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201929	0.22121	.	.	ENSG00000123607	ENST00000243344	T	0.35421	1.31	5.38	-3.4	0.04853	5.38	-3.4	0.04853	Tetratricopeptide-like helical (1);	0.139563	0.48767	D	0.000169	T	0.37156	0.0993	L	0.50919	1.6	0.80722	D	1	D;P	0.55605	0.972;0.71	P;B	0.54629	0.757;0.352	T	0.22695	-1.0209	10	0.59425	D	0.04	-2.5633	7.1948	0.25847	0.443:0.1112:0.4458:0.0	.	423;423	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	423	ENSP00000243344:L423M	ENSP00000243344:L423M	L	-	1	2	2	TTC21B	166494010	166494010	0.778000	0.28640	0.003000	0.11579	0.311000	0.27955	0.853000	0.27777	-1.009000	0.03400	-0.144000	0.13903	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.997685	1	0.170000	NM_024753			48	48		162	160	1		1	1		0	0	35	0		1	9.222187e-01	0	3	0	14	0	48	162
TTC21B	79809	broad.mit.edu	37	2	166805950	166805950	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	72					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299																																						ENST00000243344.7	1.000000	0.640000	9.800000e-01	7.400000e-01	0.850000	0.855925	0.850000	1.000000																										0				58						c.(214-216)tgT>tgC		tetratricopeptide repeat domain 21B							125.0	140.0	135.0					2																	166805950		2203	4299	6502	SO:0001819	synonymous_variant	79809	0	0					g.chr2:166805950A>G	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.216T>C	chr2.hg19:g.166805950A>G		1					AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	p.C72C	NM_024753.4	NP_079029.3	1	2	3	2.176613	Q7Z4L5	TT21B_HUMAN		3	353	-			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	1	1	hg19	c.216T>C	CCDS33315.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-9.979269	1	0.170000	NM_024753			49	48		684	676	0		1	1		0	0	136	0		1	3.730566e-01	0	3	0	16	0	49	684
SCN1A	6323	broad.mit.edu	37	2	166848892	166848892	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000303395.4	-	26	4892	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1603S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S1631S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1631					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)			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)	ACAGGGTAGGGGACACGAAAT	0.433																																						ENST00000303395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				200						c.(4891-4893)tcC>tcA		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						100.0	99.0	100.0					2																	166848892		2203	4300	6503	SO:0001819	synonymous_variant	6323	0	0					g.chr2:166848892G>T	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.4893C>A	chr2.hg19:g.166848892G>T		1					AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S1620S|SCN1A_ENST00000409050.1_Silent_p.S1603S|SCN1A_ENST00000423058.2_Silent_p.S1631S	p.S1631S			1	2	3	2.176613	P35498	SCN1A_HUMAN		26	4892	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	1	1	hg19	c.4893C>A	CCDS54413.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-20.000000	1	0.170000	NM_006920			76	75		444	437	1		1			0	0	150	0		1	0	0	0	0	0	0	76	444
SCN1A	6323	broad.mit.edu	37	2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000303395.4	-	21	4198	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1400					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)			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)	ATTTCTTTCTATTAGTTTTAG	0.353																																						ENST00000303395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				200						c.(4198-4200)aTa>aCa		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						100.0	98.0	99.0					2																	166859067		2203	4300	6503	SO:0001583	missense	6323	0	0					g.chr2:166859067A>G	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.4199T>C	chr2.hg19:g.166859067A>G	ENSP00000303540:p.Ile1400Thr	1					AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T	p.I1400T			1	2	3	2.176613	P35498	SCN1A_HUMAN		21	4198	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	1	1	hg19	c.4199T>C	CCDS54413.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138074	0.56936	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.85	5.54	5.54	0.83059	5.54	5.54	0.83059	Ion transport (1);	0.149996	0.48767	D	0.000179	D	0.94666	0.8280	L	0.37800	1.135	0.42774	D	0.99384	D;B;B	0.58620	0.983;0.157;0.078	P;B;B	0.56042	0.79;0.042;0.089	D	0.93124	0.6527	10	0.21014	T	0.42	.	14.5302	0.67920	1.0:0.0:0.0:0.0	.	1389;1372;1400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1400;1400;1389;1372	ENSP00000407030:I1400T;ENSP00000303540:I1400T;ENSP00000364554:I1389T;ENSP00000386312:I1372T	ENSP00000303540:I1400T	I	-	2	0	0	SCN1A	166567313	166567313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.324000	0.59228	2.226000	0.72624	0.482000	0.46254	ATA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_006920			95	92		270	264	1		1			0	0	70	0		1	0	0	0	0	0	0	95	270
SCN1A	6323	broad.mit.edu	37	2	166900413	166900413	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000303395.4	-	11	1808	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S603S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	603					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)			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)	AATCTCTACGGCTCTCGTTAT	0.532																																						ENST00000303395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				200						c.(1807-1809)agC>agT		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						172.0	149.0	157.0					2																	166900413		2203	4300	6503	SO:0001819	synonymous_variant	6323	0	0					g.chr2:166900413G>A	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.1809C>T	chr2.hg19:g.166900413G>A		1					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S603S|SCN1A_ENST00000409050.1_Silent_p.S603S|SCN1A_ENST00000423058.2_Silent_p.S603S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.S603S			1	2	3	2.176613	P35498	SCN1A_HUMAN		11	1808	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	1	1	hg19	c.1809C>T	CCDS54413.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_006920			83	84		370	366	1		1			0	0	56	0		1	0	0	0	0	0	0	83	370
SCN1A	6323	broad.mit.edu	37	2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000303395.4	-	6	876	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	293					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)			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)	ATATTCTTTTCTATACTATGT	0.358																																						ENST00000303395.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				200						c.(877-879)Gaa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						69.0	72.0	71.0					2																	166908316		2203	4298	6501	SO:0001587	stop_gained	6323	0	0					g.chr2:166908316C>A	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.877G>T	chr2.hg19:g.166908316C>A	ENSP00000303540:p.Glu293*	1					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.E293*			1	2	3	2.176613	P35498	SCN1A_HUMAN		6	876	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	0	1	hg19	c.877G>T	CCDS54413.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557946	0.65538	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.454372	0.20978	N	0.082277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.7602	0.78073	0.0:0.7294:0.2706:0.0	.	.	.	.	X	293	.	ENSP00000303540:E293X	E	-	1	0	0	SCN1A	166616562	166616562	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	1.026000	0.30103	2.688000	0.91661	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_006920			32	31		197	195	1		1			0	0	47	0		1	0	0	0	0	0	0	32	197
SCN9A	6335	broad.mit.edu	37	2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000409435.1	-	21	4140	c.4141C>T	c.(4141-4143)Cga>Tga	p.R1381*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). {ECO:0000269|PubMed:20635406}.		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)			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)	TTTTTCCATCGCACATTTTGA	0.398																																						ENST00000409435.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(4141-4143)Cga>Tga		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)						209.0	206.0	207.0					2																	167085266		1911	4151	6062	SO:0001587	stop_gained	6335	3	120902	40				g.chr2:167085266G>A	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.4141C>T	chr2.hg19:g.167085266G>A	ENSP00000386330:p.Arg1381*	1					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*	p.R1381*			1	2	3	2.176613	Q15858	SCN9A_HUMAN		21	4140	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	ENST00000409435.1	0	1	hg19	c.4141C>T	CCDS46441.1	1	.	.	.	.	.	.	.	.	.	.	G	45	12.055428	0.99631	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.23	2.35	0.29111	5.23	2.35	0.29111	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7708	0.69675	0.0:0.0:0.3767:0.6233	.	.	.	.	X	1370;1382;1382;1381	.	ENSP00000304748:R1382X	R	-	1	2	2	SCN9A	166793512	166793512	0.122000	0.22280	0.983000	0.44433	0.988000	0.76386	0.970000	0.29383	0.181000	0.19994	0.557000	0.71058	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_002977			166	163		750	743	1		1	0		0	0	162	0		1	4.420267e-01	0	1	0	7	0	166	750
SCN9A	6335	broad.mit.edu	37	2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A	rs200174262	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000409435.1	-	12	2004	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	669					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)			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)	GAACTACAACGCCTTTTCTTG	0.358													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17153	0.0		0.0	False		,,,				2504	0.0					ENST00000409435.1	1.000000	0.600000	1	7.300000e-01	0.880000	0.872086	0.880000	1.000000																										0				108						c.(2005-2007)Cgt>Tgt		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	G	CYS/ARG	5,3729		0,5,1862	162.0	155.0	157.0		1972	2.7	0.8	2		157	0,8228		0,0,4114	no	missense	SCN9A	NM_002977.3	180	0,5,5976	AA,AG,GG		0.0,0.1339,0.0418	possibly-damaging	658/1978	167138288	5,11957	1867	4114	5981	SO:0001583	missense	6335	15	120794	45				g.chr2:167138288G>A	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.2005C>T	chr2.hg19:g.167138288G>A	ENSP00000386330:p.Arg669Cys	1					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C	p.R669C			1	2	3	2.176613	Q15858	SCN9A_HUMAN		12	2004	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	1	1	hg19	c.2005C>T	CCDS46441.1	1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060097	0.19987	0.001339	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96522	-2.86;-2.86;-2.86;-2.86;-4.04;-2.86	5.71	2.73	0.32206	5.71	2.73	0.32206	Domain of unknown function DUF3451 (1);	0.310145	0.27744	N	0.018033	D	0.95037	0.8393	M	0.85710	2.77	0.43417	D	0.995564	B;B;B	0.15719	0.006;0.014;0.001	B;B;B	0.19666	0.016;0.026;0.011	D	0.92168	0.5741	10	0.62326	D	0.03	.	5.7959	0.18387	0.0675:0.1193:0.5719:0.2413	.	658;669;670	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	658;670;670;669;523;534	ENSP00000386306:R658C;ENSP00000364536:R670C;ENSP00000304748:R670C;ENSP00000386330:R669C;ENSP00000413212:R523C;ENSP00000393141:R534C	ENSP00000304748:R670C	R	-	1	0	0	SCN9A	166846534	166846534	0.000000	0.05858	0.797000	0.32132	0.058000	0.15608	0.210000	0.17455	0.854000	0.35336	0.650000	0.86243	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-7.742641	1	0.170000	NM_002977			28	28		378	372	0		1	0		0	0	71	0		1	2.092972e-01	0	0	0	12	0	28	378
SCN9A	6335	broad.mit.edu	37	2	167145116	167145116	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000409435.1	-	9	1144	c.1145T>C	c.(1144-1146)tTt>tCt	p.F382S	SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	382					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)			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)	CACTACGACAAAGAAGATCAT	0.368																																						ENST00000409435.1	0.650000	0.150000	5.000000e-01	2.400000e-01	0.350000	0.376374	0.350000	0.330000																										0				108						c.(1144-1146)tTt>tCt		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)						72.0	69.0	70.0					2																	167145116		1833	4110	5943	SO:0001583	missense	6335	0	0					g.chr2:167145116A>G	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.1145T>C	chr2.hg19:g.167145116A>G	ENSP00000386330:p.Phe382Ser	1					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S	p.F382S			1	2	3	2.176613	Q15858	SCN9A_HUMAN		9	1144	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	0	1	hg19	c.1145T>C	CCDS46441.1	0	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945236	0.92593	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	5.86	5.86	0.93980	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99654	0.9872	H	0.99169	4.455	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	0.97294	0.9926	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	382;382;383	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	382;383;383;382;247;247	ENSP00000386306:F382S;ENSP00000364536:F383S;ENSP00000304748:F383S;ENSP00000386330:F382S;ENSP00000413212:F247S;ENSP00000393141:F247S	ENSP00000304748:F383S	F	-	2	0	0	SCN9A	166853362	166853362	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.261000	0.95576	2.237000	0.73441	0.528000	0.53228	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-8.687266	1	0.170000	NM_002977			7	6		259	251	0		1	0		0	0	65	0		9.785096e-01	5.659751e-03	0	0	0	4	0	7	259
SCN9A	6335	broad.mit.edu	37	2	167163471	167163471	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000409435.1	-	2	371	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000375387.4_Silent_p.V124V|SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000303354.6_Silent_p.V124V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	124					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)			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)	GATATGAGTGTACTAAAATCT	0.313																																						ENST00000409435.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				108						c.(370-372)gtA>gtG		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)						50.0	48.0	49.0					2																	167163471		1809	4072	5881	SO:0001819	synonymous_variant	6335	0	0					g.chr2:167163471T>C	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.372A>G	chr2.hg19:g.167163471T>C		1					SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000375387.4_Silent_p.V124V	p.V124V			1	2	3	2.176613	Q15858	SCN9A_HUMAN		2	371	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	1	1	hg19	c.372A>G	CCDS46441.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999990	1	0.170000	NM_002977			29	28		66	66	0		1	0		0	0	15	0		1	6.812014e-01	0	0	0	7	0	29	66
SCN7A	6332	broad.mit.edu	37	2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A	rs374349539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1617					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)			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)	CAAAGTAGTCGTAATTGGCTC	0.378																																						ENST00000409855.1	0.740000	0.370000	6.400000e-01	4.500000e-01	0.540000	0.554794	0.540000	0.540000																										0				44						c.(4849-4851)aCg>aTg		sodium channel, voltage-gated, type VII, alpha subunit	Valproic Acid(DB00313)	G	MET/THR	0,3752		0,0,1876	152.0	146.0	148.0		4850	4.0	1.0	2		148	1,8211		0,1,4105	no	missense	SCN7A	NM_002976.3	81	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1617/1683	167262289	1,11963	1876	4106	5982	SO:0001583	missense	6332	3	120806	40				g.chr2:167262289G>A	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.4850C>T	chr2.hg19:g.167262289G>A	ENSP00000386796:p.Thr1617Met	1						p.T1617M	NM_002976.3	NP_002967.2	1	2	3	2.176613	Q01118	SCN7A_HUMAN		25	4976	-				Missense_Mutation	SNP	ENST00000409855.1	1	1	hg19	c.4850C>T	CCDS46442.1	0	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284154	0.59867	0.0	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97066	-4.23	3.95	3.95	0.45737	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000025	D	0.98118	0.9379	M	0.78049	2.395	0.38018	D	0.934745	D	0.89917	1.0	D	0.85130	0.997	D	0.99880	1.1112	10	0.87932	D	0	.	14.3194	0.66476	0.0:0.0:1.0:0.0	.	1617	Q01118	SCN7A_HUMAN	M	1617	ENSP00000386796:T1617M	ENSP00000259060:T1617M	T	-	2	0	0	SCN7A	166970535	166970535	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.518000	0.60510	2.514000	0.84764	0.655000	0.94253	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-4.399479	1	0.170000				33	32		744	733	0		1	0		0	0	159	0		1	2.172855e-01	0	0	0	20	0	33	744
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		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)			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)	CAACTTGAAAAAGACAGAGCA	0.363																																						ENST00000409855.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(4279-4281)ctT>ctG		sodium channel, voltage-gated, type VII, alpha subunit	Valproic Acid(DB00313)						182.0	174.0	177.0					2																	167262858		1891	4141	6032	SO:0001819	synonymous_variant	6332	0	0					g.chr2:167262858A>C	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.4281T>G	chr2.hg19:g.167262858A>C		1						p.L1427L	NM_002976.3	NP_002967.2	1	2	3	2.176613	Q01118	SCN7A_HUMAN		25	4407	-				Silent	SNP	ENST00000409855.1	1	1	hg19	c.4281T>G	CCDS46442.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	1		2	2	2	0		0	0	161		161	161	1	2.060000	-20.000000	1	0.170000				131	130		729	719	1		1	0		0	0	161	0		1	7.828151e-01	0	0	0	18	0	131	729
SCN7A	6332	broad.mit.edu	37	2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	841					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)			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)	ATCAGATTCTCCTGAAGCAAT	0.398																																						ENST00000409855.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2521-2523)gGa>gAa		sodium channel, voltage-gated, type VII, alpha subunit	Valproic Acid(DB00313)						119.0	117.0	118.0					2																	167288898		1903	4102	6005	SO:0001583	missense	6332	0	0					g.chr2:167288898C>T	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.2522G>A	chr2.hg19:g.167288898C>T	ENSP00000386796:p.Gly841Glu	1						p.G841E	NM_002976.3	NP_002967.2	1	2	3	2.176613	Q01118	SCN7A_HUMAN		15	2648	-				Missense_Mutation	SNP	ENST00000409855.1	1	1	hg19	c.2522G>A	CCDS46442.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897290	0.33535	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.05	3.13	0.36017	5.05	3.13	0.36017	Sodium ion transport-associated (1);	0.249150	0.28624	N	0.014686	T	0.78916	0.4359	L	0.49350	1.555	0.37374	D	0.911766	B	0.24258	0.1	B	0.26202	0.067	T	0.75841	-0.3175	10	0.35671	T	0.21	.	7.6994	0.28613	0.0:0.7388:0.1651:0.0961	.	841	Q01118	SCN7A_HUMAN	E	841	ENSP00000386796:G841E;ENSP00000413699:G841E	ENSP00000259060:G841E	G	-	2	0	0	SCN7A	166997144	166997144	0.071000	0.21146	1.000000	0.80357	0.946000	0.59487	0.996000	0.29719	1.328000	0.45358	0.561000	0.74099	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	0	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-3.472479	1	0.170000				116	114		454	449	0		1	0		0	0	128	0		1	3.557595e-01	0	0	0	6	0	116	454
PXDN	7837	broad.mit.edu	37	2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				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)			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)		CACCTCTCCGGCCACGTTCTT	0.557																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(967-969)gCc>gTc		peroxidasin homolog (Drosophila)							185.0	189.0	188.0					2																	1677465		2098	4229	6327	SO:0001583	missense	7837	0	0					g.chr2:1677465G>A	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.968C>T	chr2.hg19:g.1677465G>A	ENSP00000252804:p.Ala323Val	1					PXDN_ENST00000483018.1_5'UTR	p.A323V	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		9	1018	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.968C>T	CCDS46221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828350|1.828350	0.32329|0.32329	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50069|0.50069	0.1594|0.1594	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.30664|.	0.095;0.289|.	B;B|.	0.40940|.	0.075;0.344|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.33141|.	T|.	0.24|.	-21.0506|-21.0506	17.7383|17.7383	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;323|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	323|319	ENSP00000252804:A323V|.	ENSP00000252804:A323V|.	A|P	-|-	2|1	0|0	0|0	PXDN|PXDN	1656472|1656472	1656472|1656472	1.000000|1.000000	0.71417|0.71417	0.529000|0.529000	0.27951|0.27951	0.970000|0.970000	0.65996|0.65996	9.691000|9.691000	0.98679|0.98679	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GCC|CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	179		179	178	1	2.060000	-20.000000	1	0.170000	XM_056455			204	202		647	634	1		1	0		0	0	179	0		1	1	0	0	0	119	0	204	647
FAM49A	81553	broad.mit.edu	37	2	16742781	16742781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16742781C>A	ENST00000381323.3	-	7	676	c.456G>T	c.(454-456)caG>caT	p.Q152H	FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H|FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	152						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGAAGTCATTCTGAATAGCCG	0.493																																						ENST00000381323.3	0.770000	0.220000	6.100000e-01	3.200000e-01	0.450000	0.472095	0.450000	0.420000																										0				23						c.(454-456)caG>caT		family with sequence similarity 49, member A							118.0	104.0	109.0					2																	16742781		2203	4300	6503	SO:0001583	missense	81553	0	0					g.chr2:16742781C>A	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.456G>T	chr2.hg19:g.16742781C>A	ENSP00000370724:p.Gln152His	1					FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H|FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H	p.Q152H	NM_030797.3	NP_110424.1	1	2	3	2.183349	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	7	676	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	1	1	hg19	c.456G>T	CCDS1688.1	0	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599284	0.87055	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.56941	0.43;0.43;0.43	5.7	4.81	0.61882	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78178	-0.2305	10	0.87932	D	0	-22.0088	9.8384	0.40985	0.0:0.8495:0.0:0.1505	.	152	Q9H0Q0	FA49A_HUMAN	H	152	ENSP00000370724:Q152H;ENSP00000384771:Q152H;ENSP00000347744:Q152H	ENSP00000347744:Q152H	Q	-	3	2	2	FAM49A	16606262	16606262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-10.130050	1	0.170000	NM_030797			9	9		256	249	0		1	0		0	0	40	0		9.937162e-01	7.907193e-01	0	0	0	85	0	9	256
SCN7A	6332	broad.mit.edu	37	2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	177					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)			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)	CATGGATCACCGAGGAAGGAA	0.353																																						ENST00000409855.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.992586	0.990000	1.000000																										0				44						c.(529-531)Ggt>Agt		sodium channel, voltage-gated, type VII, alpha subunit	Valproic Acid(DB00313)						49.0	49.0	49.0					2																	167328870		1890	4152	6042	SO:0001583	missense	6332	2	120702	26				g.chr2:167328870C>T	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.529G>A	chr2.hg19:g.167328870C>T	ENSP00000386796:p.Gly177Ser	1						p.G177S	NM_002976.3	NP_002967.2	1	2	3	2.176613	Q01118	SCN7A_HUMAN		5	655	-				Missense_Mutation	SNP	ENST00000409855.1	0	1	hg19	c.529G>A	CCDS46442.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112005	0.77210	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98381	-4.9;-4.9;-4.9	5.37	3.45	0.39498	5.37	3.45	0.39498	Ion transport (1);	0.220210	0.32401	N	0.006150	D	0.97025	0.9028	M	0.69823	2.125	0.35514	D	0.800912	D	0.56968	0.978	P	0.47251	0.542	D	0.97354	0.9965	10	0.87932	D	0	.	7.4811	0.27406	0.0:0.5845:0.3221:0.0934	.	177	Q01118	SCN7A_HUMAN	S	177	ENSP00000386796:G177S;ENSP00000413699:G177S;ENSP00000403846:G177S	ENSP00000259060:G177S	G	-	1	0	0	SCN7A	167037116	167037116	0.839000	0.29477	1.000000	0.80357	0.906000	0.53458	1.406000	0.34646	2.675000	0.91044	0.655000	0.94253	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-7.255237	1	0.170000				10	10		68	68	1		1	0		0	0	17	0		9.975151e-01	3.036705e-01	0	0	0	8	0	10	68
XIRP2	129446	broad.mit.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409728.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000409195.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C	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.R105C(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						GAGCAGTCGGCGCAGGATTGA	0.512																																						ENST00000409728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R105C(2)	large_intestine(2)	315						c.(313-315)Cgc>Tgc		xin actin-binding repeat containing 2							114.0	116.0	115.0					2																	167760305		2024	4159	6183	SO:0001583	missense	129446	9	120962	40				g.chr2:167760305C>T	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.313C>T	chr2.hg19:g.167760305C>T	ENSP00000386619:p.Arg105Cys	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000409195.1_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C	p.R105C	NM_001199143.1	NP_001186072.1	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		2	402	+			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	1	1	hg19	c.313C>T	CCDS56143.1	1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511643	0.27036	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82344	-1.58;-1.6;3.79;-1.58;-1.6;3.79	5.12	4.23	0.50019	5.12	4.23	0.50019	.	.	.	.	.	T	0.75102	0.3804	.	.	.	0.40273	D	0.978316	P;P	0.46395	0.877;0.877	B;B	0.38562	0.276;0.276	T	0.78661	-0.2117	8	0.87932	D	0	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	C	105	ENSP00000386454:R105C;ENSP00000386619:R105C;ENSP00000386840:R105C;ENSP00000386724:R105C;ENSP00000415541:R105C;ENSP00000295237:R105C	ENSP00000295237:R105C	R	+	1	0	0	XIRP2	167468551	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_152381			65	63		307	303	1		1			0	0	63	0		1	0	0	0	0	0	0	65	307
PXDN	7837	broad.mit.edu	37	2	1680761	1680761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				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)			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)		TGAAGTACACGGTGTTCCCCG	0.547																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998146	0.990000	1.000000																										0				112						c.(784-786)acC>acT		peroxidasin homolog (Drosophila)							65.0	73.0	70.0					2																	1680761		1993	4173	6166	SO:0001819	synonymous_variant	7837	1	120918	20				g.chr2:1680761G>A	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.786C>T	chr2.hg19:g.1680761G>A		1					PXDN_ENST00000483018.1_5'Flank	p.T262T	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		8	836	-	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)	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	1	1	hg19	c.786C>T	CCDS46221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	0|0	PXDN|PXDN	1659768|1659768	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-9.038931	1	0.170000	XM_056455			13	13		79	77	1		1	0		0	0	17	0		9.996146e-01	9.999897e-01	0	0	0	145	0	13	79
XIRP2	129446	broad.mit.edu	37	2	168074706	168074706	+	Missense_Mutation	SNP	C	C	A	rs77278822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168074706C>A	ENST00000409728.1	+	6	942	c.853C>A	c.(853-855)Cct>Act	p.P285T	XIRP2_ENST00000409043.1_Missense_Mutation_p.P252T|XIRP2_ENST00000409195.1_Missense_Mutation_p.P252T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P285T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P30T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P252T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P30T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P252T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	77					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.P285S(1)|p.P252S(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						GTGCGCAGTGCCTGGTGGTTT	0.393																																						ENST00000409728.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										2	Substitution - Missense(2)	p.P285S(1)|p.P252S(1)	stomach(2)	315						c.(853-855)Cct>Act		xin actin-binding repeat containing 2							107.0	107.0	107.0					2																	168074706		1907	4121	6028	SO:0001583	missense	129446	0	0					g.chr2:168074706C>A	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.853C>A	chr2.hg19:g.168074706C>A	ENSP00000386619:p.Pro285Thr	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.P252T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P285T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P252T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P30T|XIRP2_ENST00000409195.1_Missense_Mutation_p.P252T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P30T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P252T	p.P285T	NM_001199143.1	NP_001186072.1	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		6	942	+			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	1	0	hg19	c.853C>A	CCDS56143.1	1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819129	0.71028	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	D;D;T;D;D;T;T;D	0.83506	-1.73;-1.68;3.73;-1.73;-1.68;3.73;3.8;-1.73	5.8	4.93	0.64822	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	L	0.55990	1.75	0.49051	D	0.999746	P;D;D;P;P	0.61080	0.839;0.986;0.989;0.876;0.876	P;P;D;P;P	0.63033	0.512;0.88;0.91;0.634;0.634	D	0.87061	0.2153	10	0.41790	T	0.15	-15.5798	14.8258	0.70110	0.0:0.9302:0.0:0.0698	.	77;252;285;77;30	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	T	252;285;252;252;285;252;30;30	ENSP00000386454:P252T;ENSP00000386619:P285T;ENSP00000386840:P252T;ENSP00000386724:P252T;ENSP00000415541:P285T;ENSP00000295237:P252T;ENSP00000387255:P30T;ENSP00000386981:P30T	ENSP00000295237:P252T	P	+	1	0	0	XIRP2	167782952	167782952	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.880000	0.56145	1.478000	0.48253	-0.162000	0.13425	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-4.957389	1	0.170000	NM_152381			48	47		296	292	1		1			0	0	81	0		1	0	0	0	0	0	0	48	296
XIRP2	129446	broad.mit.edu	37	2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	778					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)				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						CATATCTTTGAATCAAACAAT	0.343																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				315						c.(2857-2859)gAa>gCa		xin actin-binding repeat containing 2							48.0	46.0	46.0					2																	168100760		1843	4084	5927	SO:0001583	missense	129446	0	0					g.chr2:168100760A>C	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.2858A>C	chr2.hg19:g.168100760A>C	ENSP00000386840:p.Glu953Ala	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.E953A	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	2947	+			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	1	1	hg19	c.2858A>C	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373911	0.61624	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.15139	2.49;2.49;2.45	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78637	2.42	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	0.43212	-0.9405	10	0.72032	D	0.01	-24.7473	16.3053	0.82846	1.0:0.0:0.0:0.0	.	778;778;731	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	953;953;731	ENSP00000386840:E953A;ENSP00000295237:E953A;ENSP00000387255:E731A	ENSP00000295237:E953A	E	+	2	0	0	XIRP2	167809006	167809006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-18.905940	1	0.170000	NM_152381			41	40		252	248	1		1			0	0	49	0		1	0	0	0	0	0	0	41	252
XIRP2	129446	broad.mit.edu	37	2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1203					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)				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						CACACAAGAAGACATTCAGAA	0.363																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(4132-4134)Gac>Tac		xin actin-binding repeat containing 2							70.0	65.0	66.0					2																	168102034		1841	4087	5928	SO:0001583	missense	129446	0	0					g.chr2:168102034G>T	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.4132G>T	chr2.hg19:g.168102034G>T	ENSP00000386840:p.Asp1378Tyr	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.D1378Y	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	4221	+			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	1	1	hg19	c.4132G>T	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816694	0.90790	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06608	3.29;3.29;3.28	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.105878	0.64402	D	0.000006	T	0.30103	0.0754	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00984	-1.1491	10	0.87932	D	0	-17.2332	19.6068	0.95584	0.0:0.0:1.0:0.0	.	1203;1203;1156	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1378;1378;1156	ENSP00000386840:D1378Y;ENSP00000295237:D1378Y;ENSP00000387255:D1156Y	ENSP00000295237:D1378Y	D	+	1	0	0	XIRP2	167810280	167810280	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.652000	0.83633	2.744000	0.94065	0.563000	0.77884	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_152381			61	61		325	319	1		1			0	0	89	0		1	0	0	0	0	0	0	61	325
XIRP2	129446	broad.mit.edu	37	2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1378					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)				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						AAGAGCATTAAAGAAACCTTA	0.358																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(4657-4659)aAa>aCa		xin actin-binding repeat containing 2							54.0	51.0	52.0					2																	168102560		1810	4077	5887	SO:0001583	missense	129446	0	0					g.chr2:168102560A>C	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.4658A>C	chr2.hg19:g.168102560A>C	ENSP00000386840:p.Lys1553Thr	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.K1553T	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	4747	+			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	1	1	hg19	c.4658A>C	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868527	0.51588	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.051031	0.85682	D	0.000000	T	0.14743	0.0356	L	0.56769	1.78	0.48040	D	0.999574	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.963;0.983;0.99	T	0.00409	-1.1757	10	0.48119	T	0.1	-27.2337	14.6939	0.69107	1.0:0.0:0.0:0.0	.	1378;1378;1331	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1553;1553;1331	ENSP00000386840:K1553T;ENSP00000295237:K1553T;ENSP00000387255:K1331T	ENSP00000295237:K1553T	K	+	2	0	0	XIRP2	167810806	167810806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.966000	0.63715	2.122000	0.65172	0.460000	0.39030	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_152381			94	94		301	297	1		1			0	0	60	0		1	0	0	0	0	0	0	94	301
XIRP2	129446	broad.mit.edu	37	2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					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)				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						TTTGGATTATCTGAAACAACT	0.373																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(5272-5274)Ctg>Atg		xin actin-binding repeat containing 2							89.0	84.0	85.0					2																	168103174		1867	4101	5968	SO:0001583	missense	129446	0	0					g.chr2:168103174C>A	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.5272C>A	chr2.hg19:g.168103174C>A	ENSP00000386840:p.Leu1758Met	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.L1758M	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	5361	+			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	1	1	hg19	c.5272C>A	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845636	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11385	2.8;2.8;2.78	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.983	T	0.06661	-1.0814	10	0.66056	D	0.02	-7.2269	18.3299	0.90264	0.0:1.0:0.0:0.0	.	1583;1583;1536	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	1758;1758;1536	ENSP00000386840:L1758M;ENSP00000295237:L1758M;ENSP00000387255:L1536M	ENSP00000295237:L1758M	L	+	1	2	2	XIRP2	167811420	167811420	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.764000	0.68826	2.633000	0.89246	0.637000	0.83480	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_152381			94	93		268	266	1		1			0	0	64	0		1	0	0	0	0	0	0	94	268
XIRP2	129446	broad.mit.edu	37	2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1856					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)				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						GATTGTCATAGATCGTGAACA	0.388																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(6091-6093)Gat>Tat		xin actin-binding repeat containing 2							65.0	60.0	62.0					2																	168103993		1847	4090	5937	SO:0001583	missense	129446	0	0					g.chr2:168103993G>T	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.6091G>T	chr2.hg19:g.168103993G>T	ENSP00000386840:p.Asp2031Tyr	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.D2031Y	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	6180	+			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	1	1	hg19	c.6091G>T	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165017	0.38217	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.85	0.62838	5.73	4.85	0.62838	.	0.574989	0.19405	N	0.115071	T	0.43678	0.1258	M	0.63428	1.95	0.37711	D	0.924572	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69479	0.921;0.964;0.964	T	0.49818	-0.8899	10	0.72032	D	0.01	-17.3679	7.9073	0.29769	0.2391:0.0:0.7609:0.0	.	1856;1856;1809	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2031;2031;1809	ENSP00000386840:D2031Y;ENSP00000295237:D2031Y;ENSP00000387255:D1809Y	ENSP00000295237:D2031Y	D	+	1	0	0	XIRP2	167812239	167812239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.304000	0.43655	1.441000	0.47550	-0.145000	0.13849	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_152381			72	71		250	246	1		1			0	0	51	0		1	0	0	0	0	0	0	72	250
XIRP2	129446	broad.mit.edu	37	2	168104995	168104995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168104995C>T	ENST00000409195.1	+	9	7182	c.7093C>T	c.(7093-7095)Ccg>Tcg	p.P2365S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2143S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2365S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2190					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)				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						GATGTTTCTGCCGCCTCCTCC	0.473																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(7093-7095)Ccg>Tcg		xin actin-binding repeat containing 2							93.0	101.0	99.0					2																	168104995		1981	4153	6134	SO:0001583	missense	129446	0	0					g.chr2:168104995C>T	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.7093C>T	chr2.hg19:g.168104995C>T	ENSP00000386840:p.Pro2365Ser	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.P2365S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2143S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.P2365S	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	7182	+			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	1	0	hg19	c.7093C>T	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690793	0.29962	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04275	3.67;3.67;3.66	6.02	5.14	0.70334	6.02	5.14	0.70334	.	0.385337	0.27554	N	0.018848	T	0.12220	0.0297	M	0.67953	2.075	0.43099	D	0.994784	D;D;D	0.58620	0.972;0.983;0.983	P;P;P	0.56865	0.647;0.808;0.808	T	0.25398	-1.0133	10	0.15952	T	0.53	-2.9885	9.7499	0.40470	0.1427:0.7846:0.0:0.0726	.	2190;2190;2143	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2365;2365;2143	ENSP00000386840:P2365S;ENSP00000295237:P2365S;ENSP00000387255:P2143S	ENSP00000295237:P2365S	P	+	1	0	0	XIRP2	167813241	167813241	0.478000	0.25917	0.052000	0.19188	0.331000	0.28603	3.341000	0.52151	1.543000	0.49345	0.655000	0.94253	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	0	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-10.210880	1	0.170000	NM_152381			199	190		509	488	1		1			0	0	151	0		1	0	0	0	0	0	0	199	509
XIRP2	129446	broad.mit.edu	37	2	168107754	168107754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000295237.9_Silent_p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3109					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)				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						ATCACATGGTGCCCGACACTG	0.473																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(9850-9852)gtG>gtA		xin actin-binding repeat containing 2							94.0	94.0	94.0					2																	168107754		2019	4176	6195	SO:0001819	synonymous_variant	129446	0	0					g.chr2:168107754G>A	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.9852G>A	chr2.hg19:g.168107754G>A		1					XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.V3284V	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	9941	+			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	1	1	hg19	c.9852G>A	CCDS42769.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-8.401916	1	0.170000	NM_152381			176	175		470	462	1		1			0	0	98	0		1	0	0	0	0	0	0	176	470
XIRP2	129446	broad.mit.edu	37	2	168108246	168108246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000295237.9_Silent_p.G3448G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3273					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)				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						GCAAATCTGGCTGTGACTTCA	0.388																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(10342-10344)ggC>ggT		xin actin-binding repeat containing 2							61.0	61.0	61.0					2																	168108246		1917	4138	6055	SO:0001819	synonymous_variant	129446	0	0					g.chr2:168108246C>T	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.10344C>T	chr2.hg19:g.168108246C>T		1					XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.G3448G	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	10433	+			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	1	1	hg19	c.10344C>T	CCDS42769.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_152381			71	71		236	229	1		1			0	0	58	0		1	0	0	0	0	0	0	71	236
PXDN	7837	broad.mit.edu	37	2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	176					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)			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)		TTAAATGTCCCTGGAACTAAA	0.308																																						ENST00000252804.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999441	0.990000	1.000000																										0				112						c.(526-528)Ggg>Tgg		peroxidasin homolog (Drosophila)							45.0	46.0	46.0					2																	1687462		1795	4061	5856	SO:0001583	missense	7837	0	0					g.chr2:1687462C>A	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.526G>T	chr2.hg19:g.1687462C>A	ENSP00000252804:p.Gly176Trp	1						p.G176W	NM_012293.1	NP_036425.1	1	2	3	2.183349	Q92626	PXDN_HUMAN		6	576	-	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)	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	1	1	hg19	c.526G>T	CCDS46221.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.82|18.82|18.82	3.706140|3.706140|3.706140	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.55413|.|.	0.52;0.92|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	0.057139|.|.	0.64402|.|.	D|.|.	0.000001|.|.	D|D|D	0.83792|0.83792|0.83792	0.5331|0.5331|0.5331	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.999;1.0|.|.	D|D|D	0.85695|0.85695|0.85695	0.1309|0.1309|0.1309	10|5|5	0.87932|.|.	D|.|.	0|.|.	-32.4813|-32.4813|-32.4813	19.2505|19.2505|19.2505	0.93923|0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	176;176|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	W|H|M	176;152|171|99	ENSP00000252804:G176W;ENSP00000398363:G152W|.|.	ENSP00000252804:G176W|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	0|2|0	PXDN|PXDN|PXDN	1666469|1666469|1666469	1666469|1666469|1666469	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.428000|0.428000|0.428000	0.26697|0.26697|0.26697	0.491000|0.491000|0.491000	0.33493|0.33493|0.33493	7.505000|7.505000|7.505000	0.81655|0.81655|0.81655	2.542000|2.542000|2.542000	0.85734|0.85734|0.85734	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-3.083832	1	0.170000	XM_056455			11	10		51	50	1		1	0		0	0	22	0		9.986111e-01	9.997846e-01	0	0	0	80	0	11	51
XIRP2	129446	broad.mit.edu	37	2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3277					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)				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						TGTGACTTCAAGCATGCCCCA	0.403																																						ENST00000409195.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(10354-10356)aAg>aCg		xin actin-binding repeat containing 2							60.0	61.0	60.0					2																	168108257		1914	4139	6053	SO:0001583	missense	129446	0	0					g.chr2:168108257A>C	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.10355A>C	chr2.hg19:g.168108257A>C	ENSP00000386840:p.Lys3452Thr	1					XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.K3452T	NM_152381.5	NP_689594.4	1	2	3	2.176613	A4UGR9	XIRP2_HUMAN		9	10444	+			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	1	1	hg19	c.10355A>C	CCDS42769.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114071	0.77210	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.184931	0.49916	D	0.000125	T	0.18087	0.0434	M	0.71581	2.175	0.49213	D	0.999768	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.964	T	0.00035	-1.2259	10	0.72032	D	0.01	-20.7223	15.7887	0.78332	1.0:0.0:0.0:0.0	.	3277;3277;3230	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3452;3452;3230;866	ENSP00000386840:K3452T;ENSP00000295237:K3452T;ENSP00000387255:K3230T	ENSP00000295237:K3452T	K	+	2	0	0	XIRP2	167816503	167816503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.501000	0.45389	2.367000	0.80283	0.528000	0.53228	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_152381			65	65		251	244	1		1			0	0	55	0		1	0	0	0	0	0	0	65	251
SPC25	57405	broad.mit.edu	37	2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	154	Interaction with the C-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353																																						ENST00000282074.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(460-462)Ttg>Gtg		SPC25, NDC80 kinetochore complex component							89.0	98.0	95.0					2																	169730185		2203	4298	6501	SO:0001583	missense	57405	0	0					g.chr2:169730185A>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.460T>G	chr2.hg19:g.169730185A>C	ENSP00000282074:p.Leu154Val	1						p.L154V	NM_020675.3	NP_065726.1	1	2	3	2.176613	Q9HBM1	SPC25_HUMAN		6	601	-			A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	1	1	hg19	c.460T>G	CCDS2229.1	1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699704	0.68501	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.85	0.289	0.15723	5.85	0.289	0.15723	.	0.000000	0.64402	D	0.000001	T	0.67107	0.2858	M	0.62154	1.92	0.51767	D	0.99993	D	0.76494	0.999	D	0.77004	0.989	T	0.63980	-0.6514	9	0.49607	T	0.09	-11.3603	8.7529	0.34629	0.5829:0.0:0.4171:0.0	.	154	Q9HBM1	SPC25_HUMAN	V	154	.	ENSP00000282074:L154V	L	-	1	2	2	SPC25	169438431	169438431	0.869000	0.29996	0.997000	0.53966	0.981000	0.71138	0.940000	0.28992	0.124000	0.18369	0.402000	0.26972	TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_020675			102	101		313	310	1		1	1		0	0	90	0		1	9.437229e-01	0	7	0	10	0	102	313
G6PC2	57818	broad.mit.edu	37	2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	20					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)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358																																						ENST00000375363.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(58-60)cGa>cAa		glucose-6-phosphatase, catalytic, 2		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	136.0	136.0		59,59	2.9	0.9	2	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	20/155,20/356	169757900	1,13005	2203	4300	6503	SO:0001583	missense	57818	1	121412	37				g.chr2:169757900G>A	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.59G>A	chr2.hg19:g.169757900G>A	ENSP00000364512:p.Arg20Gln	1					SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	p.R20Q	NM_021176.2	NP_066999.1	1	2	3	2.176613	Q9NQR9	G6PC2_HUMAN		1	151	+			E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	1	1	hg19	c.59G>A	CCDS2230.1	1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949068	0.02304	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82344	-0.88;-0.88;-1.6	5.62	2.87	0.33458	5.62	2.87	0.33458	.	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.46442	-0.9191	9	0.09338	T	0.73	-6.0633	7.1564	0.25639	0.1678:0.0:0.7092:0.123	.	20;20	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	Q	20	ENSP00000364512:R20Q;ENSP00000396939:R20Q;ENSP00000392183:R20Q	ENSP00000282075:R20Q	R	+	2	0	0	G6PC2	169466146	169466146	0.992000	0.36948	0.861000	0.33841	0.704000	0.40688	1.761000	0.38440	0.323000	0.23307	-0.782000	0.03352	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-4.123209	1	0.170000	NM_021176			129	126		446	440	1		1	0		0	0	90	0		1	9.809121e-01	0	0	0	24	0	129	446
ABCB11	8647	broad.mit.edu	37	2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	888	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)			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)	GATCATGGCCACAGTGACGTT	0.502																																						ENST00000263817.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2662-2664)gTg>gCg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	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)						136.0	133.0	134.0					2																	169792891		2046	4201	6247	SO:0001583	missense	8647	0	0					g.chr2:169792891A>G	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.2663T>C	chr2.hg19:g.169792891A>G	ENSP00000263817:p.Val888Ala	1						p.V888A	NM_003742.2	NP_003733.2	1	2	3	2.176613	O95342	ABCBB_HUMAN		22	2787	-			Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	1	1	hg19	c.2663T>C	CCDS46444.1	1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217062	0.39201	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.52	5.52	0.82312	5.52	5.52	0.82312	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	T	0.76681	0.4021	N	0.04297	-0.235	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.20955	0.032;0.032	T	0.72171	-0.4371	10	0.12430	T	0.62	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	330;888	B4DZQ8;O95342	.;ABCBB_HUMAN	A	888	ENSP00000263817:V888A	ENSP00000263817:V888A	V	-	2	0	0	ABCB11	169501137	169501137	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.734000	0.47368	2.096000	0.63516	0.459000	0.35465	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_003742			97	97		301	294	1		1			0	0	76	0		1	0	0	0	0	0	0	97	301
ABCB11	8647	broad.mit.edu	37	2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	107	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)			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)	TTATTCACACATGCTTTTCCT	0.393																																						ENST00000263817.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(319-321)Tgt>Cgt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	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)						246.0	234.0	238.0					2																	169869852		1896	4136	6032	SO:0001583	missense	8647	1	120834	32				g.chr2:169869852A>G	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.319T>C	chr2.hg19:g.169869852A>G	ENSP00000263817:p.Cys107Arg	1						p.C107R	NM_003742.2	NP_003733.2	1	2	3	2.176613	O95342	ABCBB_HUMAN		5	443	-			Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	1	1	hg19	c.319T>C	CCDS46444.1	1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398189	0.62177	.	.	ENSG00000073734	ENST00000263817	D	0.86366	-2.11	5.41	5.41	0.78517	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089899	0.85682	D	0.000000	D	0.89581	0.6756	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.88189	0.2876	10	0.30078	T	0.28	-13.8408	15.4475	0.75243	1.0:0.0:0.0:0.0	.	107	O95342	ABCBB_HUMAN	R	107	ENSP00000263817:C107R	ENSP00000263817:C107R	C	-	1	0	0	ABCB11	169578098	169578098	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	8.305000	0.89960	2.043000	0.60533	0.454000	0.30748	TGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	1	0	1		2	2	2	0		0	0	215		215	214	1	2.060000	-20.000000	1	0.170000	NM_003742			270	264		865	845	1		1	0		0	0	215	0		1	0	0	1	0	0	0	270	865
LRP2	4036	broad.mit.edu	37	2	170027155	170027155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3762	LDL-receptor class A 32. {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)			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)"""	ATCGAAACTCGCTCTCTGTGC	0.527																																						ENST00000263816.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(11284-11286)agC>agT		low density lipoprotein receptor-related protein 2	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"						142.0	118.0	126.0					2																	170027155		2203	4300	6503	SO:0001819	synonymous_variant	4036	1	121412	30				g.chr2:170027155G>A		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.11286C>T	chr2.hg19:g.170027155G>A		1						p.S3762S	NM_004525.2	NP_004516.2	1	2	3	2.176613	P98164	LRP2_HUMAN		59	11571	-			O00711|Q16215	Silent	SNP	ENST00000263816.3	1	1	hg19	c.11286C>T	CCDS2232.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-8.107975	1	0.170000	NM_004525			141	139		370	365	1		1			0	0	89	0		1	0	0	0	0	0	0	141	370
LRP2	4036	broad.mit.edu	37	2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAATGTATGCGCGGTGACCC	0.483													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18886	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				315						c.(10030-10032)Gca>Aca		low density lipoprotein receptor-related protein 2	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	C	THR/ALA	23,4383	29.9+/-59.1	0,23,2180	151.0	123.0	132.0		10030	4.8	0.8	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	58	0,24,6479	TT,TC,CC		0.0116,0.522,0.1845	probably-damaging	3344/4656	170038097	24,12982	2203	4300	6503	SO:0001583	missense	4036	65	121412	50				g.chr2:170038097C>T		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.10030G>A	chr2.hg19:g.170038097C>T	ENSP00000263816:p.Ala3344Thr	1					LRP2_ENST00000461418.1_5'UTR	p.A3344T	NM_004525.2	NP_004516.2	1	2	3	2.176613	P98164	LRP2_HUMAN		52	10315	-			O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	1	1	hg19	c.10030G>A	CCDS2232.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	0	LRP2	169746343	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.923119	1	0.170000	NM_004525			73	72		211	210	1		1			0	0	66	0		1	0	0	0	0	0	0	73	211
LRP2	4036	broad.mit.edu	37	2	170058137	170058137	+	Splice_Site	SNP	C	C	T	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATAAACTTACGGCAATTTTT	0.338																																						ENST00000263816.3	1.000000	0.650000	1	8.000000e-01	0.970000	0.921804	0.970000	1.000000																										0				315	GRCh37	CS073498	LRP2	S	rs80338748	c.e44+1		low density lipoprotein receptor-related protein 2	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"						105.0	104.0	104.0					2																	170058137		2203	4300	6503	SO:0001630	splice_region_variant	4036	0	0					g.chr2:170058137C>T		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.8452+1G>A	chr2.hg19:g.170058137C>T		1							NM_004525.2	NP_004516.2	1	2	3	2.176613	P98164	LRP2_HUMAN		44	8738	-			O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	1	1	hg19		CCDS2232.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.242369	0.95272	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.92	5.92	0.95590	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LRP2	169766383	169766383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.701000	0.84566	2.794000	0.96219	0.650000	0.86243	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-8.220048	1	0.170000	NM_004525	Intron		25	24		304	300	0		1			0	0	64	0		9.999998e-01	0	0	0	0	0	0	25	304
FASTKD1	79675	broad.mit.edu	37	2	170428255	170428255	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170428255A>G	ENST00000453153.2	-	2	631	c.285T>C	c.(283-285)caT>caC	p.H95H	FASTKD1_ENST00000453929.2_Silent_p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	95					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAATTGAGGATGGTCTCTGA	0.353																																						ENST00000453153.2	0.570000	0.120000	4.300000e-01	1.900000e-01	0.290000	0.318764	0.290000	0.270000																										0				37						c.(283-285)caT>caC		FAST kinase domains 1							78.0	74.0	75.0					2																	170428255		2203	4300	6503	SO:0001819	synonymous_variant	79675	0	0					g.chr2:170428255A>G	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.285T>C	chr2.hg19:g.170428255A>G		1					FASTKD1_ENST00000453929.2_Silent_p.H95H	p.H95H	NM_024622.3	NP_078898.3	1	2	3	2.176613	Q53R41	FAKD1_HUMAN		2	631	-			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	0	1	hg19	c.285T>C	CCDS33318.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	0	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-7.454208	1	0.170000	NM_024622			6	6		269	267	0		1	0		0	0	29	0		9.646469e-01	1.446911e-01	0	1	0	25	0	6	269
PPIG	9360	broad.mit.edu	37	2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388																																						ENST00000260970.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1948-1950)aAg>aGg		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						69.0	72.0	71.0					2																	170493717		2203	4300	6503	SO:0001583	missense	9360	0	0					g.chr2:170493717A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1949A>G	chr2.hg19:g.170493717A>G	ENSP00000260970:p.Lys650Arg	1					PPIG_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	p.K650R	NM_004792.2	NP_004783.2	1	2	3	2.176613	Q13427	PPIG_HUMAN		14	2169	+			D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	1	1	hg19	c.1949A>G	CCDS2235.1	1	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512835	0.12944	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16196	2.36;2.36;2.36	5.51	1.83	0.25207	5.51	1.83	0.25207	.	0.288558	0.31963	N	0.006783	T	0.09069	0.0224	N	0.14661	0.345	0.30690	N	0.751441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-6.7652	8.7238	0.34456	0.6299:0.0:0.3701:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	R	650;635;650	ENSP00000260970:K650R;ENSP00000386245:K635R;ENSP00000407083:K650R	ENSP00000260970:K650R	K	+	2	0	0	PPIG	170201963	170201963	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	1.112000	0.31172	0.070000	0.16634	0.482000	0.46254	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-19.989950	1	0.170000				37	37		166	165	1		1	1		0	0	63	0		1	1	0	66	0	240	0	37	166
PPIG	9360	broad.mit.edu	37	2	170493763	170493763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	665					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358																																						ENST00000260970.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1993-1995)taC>taT		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						71.0	75.0	73.0					2																	170493763		2202	4300	6502	SO:0001819	synonymous_variant	9360	0	0					g.chr2:170493763C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1995C>T	chr2.hg19:g.170493763C>T		1					PPIG_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	p.Y665Y	NM_004792.2	NP_004783.2	1	2	3	2.176613	Q13427	PPIG_HUMAN		14	2215	+			D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	1	1	hg19	c.1995C>T	CCDS2235.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				77	77		193	189	0		1	1		0	0	76	0		1	1	0	85	0	165	0	77	193
PPIG	9360	broad.mit.edu	37	2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	701					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353																																						ENST00000260970.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(2101-2103)tTa>tCa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						39.0	40.0	40.0					2																	170493870		2202	4297	6499	SO:0001583	missense	9360	0	0					g.chr2:170493870T>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2102T>C	chr2.hg19:g.170493870T>C	ENSP00000260970:p.Leu701Ser	1					PPIG_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	p.L701S	NM_004792.2	NP_004783.2	1	2	3	2.176613	Q13427	PPIG_HUMAN		14	2322	+			D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	1	1	hg19	c.2102T>C	CCDS2235.1	1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668229	0.14776	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15718	2.4;2.4;2.4	5.63	4.49	0.54785	5.63	4.49	0.54785	.	0.469985	0.18759	N	0.131954	T	0.09598	0.0236	N	0.04508	-0.205	0.22610	N	0.998939	B;D;B	0.54964	0.0;0.969;0.0	B;P;B	0.50352	0.0;0.638;0.0	T	0.15178	-1.0446	10	0.23302	T	0.38	-0.3466	4.3681	0.11233	0.161:0.1378:0.0:0.7013	.	686;686;701	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	S	701;686;701	ENSP00000260970:L701S;ENSP00000386245:L686S;ENSP00000407083:L701S	ENSP00000260970:L701S	L	+	2	0	0	PPIG	170202116	170202116	0.997000	0.39634	0.999000	0.59377	0.788000	0.44548	1.770000	0.38532	2.152000	0.67230	0.482000	0.46254	TTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				35	35		182	177	1		1	1		0	0	49	0		1	1	0	44	0	161	0	35	182
KLHL23	151230	broad.mit.edu	37	2	170606212	170606212	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378																																						ENST00000392647.2	1.000000	0.620000	9.200000e-01	7.100000e-01	0.810000	0.819189	0.810000	1.000000																										0				16						c.(1645-1647)tcT>tcA		kelch-like family member 23							215.0	209.0	211.0					2																	170606212		2203	4300	6503	SO:0001819	synonymous_variant	151230	0	0					g.chr2:170606212T>A	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.1647T>A	chr2.hg19:g.170606212T>A		1					KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	p.S549S	NM_144711.5	NP_653312.2	1	2	3	2.176613	Q8NBE8	KLH23_HUMAN		4	1891	+			Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	1	1	hg19	c.1647T>A	CCDS2236.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-10.023350	1	0.170000	NM_144711			56	55		824	797	0		1	1		0	0	129	0		1	3.255710e-01	0	4	0	14	0	56	824
UBR3	130507	broad.mit.edu	37	2	170815035	170815035	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1211					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)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353																																						ENST00000272793.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(3631-3633)gtT>gtG		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78.0	84.0	82.0					2																	170815035		2203	4300	6503	SO:0001630	splice_region_variant	130507	0	0					g.chr2:170815035T>G	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.3634+1T>G	chr2.hg19:g.170815035T>G		1					UBR3_ENST00000418381.1_Splice_Site_p.V1211V	p.V1211V			1	2	3	2.176613	Q6ZT12	UBR3_HUMAN		24	3683	+			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	1	0	hg19	c.3633T>G		1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717807	0.48622	.	.	ENSG00000144357	ENST00000392632	.	.	.	6.04	4.86	0.63082	6.04	4.86	0.63082	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62784	-0.6781	4	.	.	.	.	12.414	0.55483	0.0:0.066:0.0:0.9339	.	.	.	.	W	269	.	.	L	+	2	0	0	UBR3	170523281	170523281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.746000	0.47467	1.066000	0.40716	0.523000	0.50628	TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_172070	Silent		65	63		363	358	0		1	1		0	0	61	0		1	9.671536e-01	0	5	0	28	0	65	363
UBR3	130507	broad.mit.edu	37	2	170917646	170917646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1615					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)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313																																						ENST00000272793.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				33						c.(4843-4845)Cta>Tta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							79.0	84.0	83.0					2																	170917646		2203	4298	6501	SO:0001819	synonymous_variant	130507	0	0					g.chr2:170917646C>T	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.4843C>T	chr2.hg19:g.170917646C>T		1					UBR3_ENST00000418381.1_Silent_p.L1615L|UBR3_ENST00000392631.1_Silent_p.L436L	p.L1615L			1	2	3	2.176613	Q6ZT12	UBR3_HUMAN		34	4893	+			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	1	1	hg19	c.4843C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-19.332970	1	0.170000	NM_172070			49	48		355	350	1		1	1		0	0	73	0		1	9.993446e-01	0	15	0	66	0	49	355
MYO3B	140469	broad.mit.edu	37	2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000408978.4	+	4	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	116	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)			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						CTCAGTCACTGAGCTTGTCAA	0.453																																						ENST00000408978.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(346-348)Gag>Aag		myosin IIIB							86.0	84.0	85.0					2																	171070913		1967	4167	6134	SO:0001583	missense	140469	0	0					g.chr2:171070913G>A		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.346G>A	chr2.hg19:g.171070913G>A	ENSP00000386213:p.Glu116Lys	1					MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K	p.E116K	NM_138995.4	NP_620482.3	1	2	3	2.176613	Q8WXR4	MYO3B_HUMAN		4	489	+			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	1	1	hg19	c.346G>A	CCDS42773.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713704	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155107	0.56097	D	0.000028	T	0.60196	0.2250	L	0.33093	0.98	0.58432	D	0.999998	P;P;P;P	0.39131	0.609;0.661;0.604;0.661	B;B;B;B	0.42593	0.287;0.217;0.108;0.392	T	0.64153	-0.6474	10	0.72032	D	0.01	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	116;116;116;116	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	K	116;116;115;125;125	ENSP00000386497:E116K;ENSP00000386213:E116K;ENSP00000446237:E125K;ENSP00000335100:E125K	ENSP00000314213:E115K	E	+	1	0	0	MYO3B	170779159	170779159	1.000000	0.71417	0.931000	0.37212	0.980000	0.70556	9.378000	0.97191	2.596000	0.87737	0.650000	0.86243	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.100315	1	0.170000				61	60		306	299	1		1			0	0	72	0		1	0	0	0	0	0	0	61	306
MYO3B	140469	broad.mit.edu	37	2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000408978.4	+	9	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	276	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)			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						GTCTTATTAAGGATTTTGAAA	0.413																																						ENST00000408978.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(826-828)aaG>aaT		myosin IIIB							145.0	130.0	135.0					2																	171225744		1839	4093	5932	SO:0001583	missense	140469	0	0					g.chr2:171225744G>T		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.828G>T	chr2.hg19:g.171225744G>T	ENSP00000386213:p.Lys276Asn	1					MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N|MYO3B_ENST00000602629.1_3'UTR	p.K276N	NM_138995.4	NP_620482.3	1	2	3	2.176613	Q8WXR4	MYO3B_HUMAN		9	971	+			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	1	1	hg19	c.828G>T	CCDS42773.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740166|3.740166	0.69304|0.69304	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.15718	.|2.4;2.4;2.4;2.4	6.06|6.06	2.85|2.85	0.33270|0.33270	6.06|6.06	2.85|2.85	0.33270|0.33270	.|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	.|0.45856	.|0.1363	M|M	0.89840|0.89840	3.065|3.065	0.44862|0.44862	D|D	0.997871|0.997871	.|D;D;D;D	.|0.89917	.|0.991;0.997;1.0;0.997	.|P;D;D;D	.|0.97110	.|0.86;0.942;1.0;0.914	.|T	.|0.46693	.|-0.9173	.|10	.|0.87932	.|D	.|0	.|.	10.1377|10.1377	0.42717|0.42717	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.	.|276;276;276;276	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	X|N	276|276;276;275;285;285	.|ENSP00000386497:K276N;ENSP00000386213:K276N;ENSP00000446237:K285N;ENSP00000335100:K285N	.|ENSP00000314213:K275N	G|K	+|+	1|3	0|2	0|2	MYO3B|MYO3B	170933990|170933990	170933990|170933990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.400000|2.400000	0.44504|0.44504	0.272000|0.272000	0.22027|0.22027	-0.145000|-0.145000	0.13849|0.13849	GGA|AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-5.142567	1	0.170000				92	90		267	261	1		1			0	0	55	0		1	0	0	0	0	0	0	92	267
MYO3B	140469	broad.mit.edu	37	2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000408978.4	+	14	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	510	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)			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						ATGGGGGCAAGAATCTCTGAA	0.438																																						ENST00000408978.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1528-1530)aGa>aTa		myosin IIIB							86.0	83.0	84.0					2																	171243770		1882	4134	6016	SO:0001583	missense	140469	0	0					g.chr2:171243770G>T		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.1529G>T	chr2.hg19:g.171243770G>T	ENSP00000386213:p.Arg510Ile	1					MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I|MYO3B_ENST00000602629.1_3'UTR	p.R510I	NM_138995.4	NP_620482.3	1	2	3	2.176613	Q8WXR4	MYO3B_HUMAN		14	1672	+			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	1	1	hg19	c.1529G>T	CCDS42773.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875148	0.51695	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.9	4.92	0.64577	5.9	4.92	0.64577	Myosin head, motor domain (2);	0.041372	0.85682	D	0.000000	D	0.83644	0.5299	L	0.37466	1.105	0.58432	D	0.999998	P;B;P	0.44380	0.801;0.108;0.834	P;B;P	0.52598	0.476;0.061;0.703	T	0.79688	-0.1699	10	0.27785	T	0.31	.	3.9069	0.09186	0.3188:0.0:0.6812:0.0	.	510;510;510	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	I	510;510;509;519;519	ENSP00000386497:R510I;ENSP00000386213:R510I;ENSP00000446237:R519I;ENSP00000335100:R519I	ENSP00000314213:R509I	R	+	2	0	0	MYO3B	170952016	170952016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.470000	0.66756	2.793000	0.96121	0.563000	0.77884	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000				88	84		439	427	1		1	0		0	0	114	0		1	0	0	0	0	1	0	88	439
MYO3B	140469	broad.mit.edu	37	2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000408978.4	+	15	1755	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	538	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)			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						TTACTATATTTATGCTGGTCT	0.343																																						ENST00000408978.4	0.670000	0.160000	5.200000e-01	2.500000e-01	0.360000	0.390764	0.360000	0.340000																										0				59						c.(1612-1614)Tat>Cat		myosin IIIB							32.0	32.0	32.0					2																	171248064		1781	4054	5835	SO:0001583	missense	140469	0	0					g.chr2:171248064T>C		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.1612T>C	chr2.hg19:g.171248064T>C	ENSP00000386213:p.Tyr538His	1					MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H|MYO3B_ENST00000602629.1_3'UTR	p.Y538H	NM_138995.4	NP_620482.3	1	2	3	2.176613	Q8WXR4	MYO3B_HUMAN		15	1755	+			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	1	1	hg19	c.1612T>C	CCDS42773.1	0	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562697	0.86335	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.997;0.981;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	538;538;538	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	538;538;537;547;547	ENSP00000386497:Y538H;ENSP00000386213:Y538H;ENSP00000446237:Y547H;ENSP00000335100:Y547H	ENSP00000314213:Y537H	Y	+	1	0	0	MYO3B	170956310	170956310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	0	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-8.919699	1	0.170000				7	7		249	244	0		1			0	0	45	0		9.796209e-01	0	0	0	0	0	0	7	249
GAD1	2571	broad.mit.edu	37	2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	AC007405.8_ENST00000451730.1_RNA|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|AC007405.8_ENST00000455988.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	24					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TACCACTAACCTGCGCCCCAC	0.622																																						ENST00000358196.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(70-72)Ctg>Atg		glutamate decarboxylase 1 (brain, 67kDa)							69.0	71.0	70.0					2																	171675171		2203	4300	6503	SO:0001583	missense	2571	0	0					g.chr2:171675171C>A		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.70C>A	chr2.hg19:g.171675171C>A	ENSP00000350928:p.Leu24Met	1					AC007405.8_ENST00000418106.1_RNA|AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|AC007405.8_ENST00000455988.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M	p.L24M	NM_000817.2	NP_000808.2	1	2	3	2.176613	Q99259	DCE1_HUMAN		2	620	+			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	1	1	hg19	c.70C>A	CCDS2239.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850212	0.71719	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;D;T;T;T;T;T	0.90504	-1.75;-2.68;2.23;0.35;0.35;-1.38;-1.23	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.183599	0.39083	N	0.001470	D	0.93252	0.7850	L	0.51422	1.61	0.44825	D	0.997839	D;D	0.71674	0.997;0.998	D;D	0.69142	0.942;0.962	D	0.93093	0.6501	10	0.54805	T	0.06	-8.7481	14.9773	0.71283	0.0:0.9299:0.0:0.0701	.	24;24	Q99259;Q99259-3	DCE1_HUMAN;.	M	24	ENSP00000402366:L24M;ENSP00000394948:L24M;ENSP00000350928:L24M;ENSP00000364421:L24M;ENSP00000341167:L24M;ENSP00000405917:L24M;ENSP00000394255:L24M	ENSP00000341167:L24M	L	+	1	2	2	GAD1	171383417	171383417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.625000	0.37029	2.667000	0.90743	0.561000	0.74099	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000				138	133		433	425	1		1	1		0	0	105	0		1	7.364304e-01	0	3	0	7	0	138	433
GAD1	2571	broad.mit.edu	37	2	171678658	171678658	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Splice_Site_p.C48C|GAD1_ENST00000344257.5_Splice_Site_p.C48C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	48					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCAAGATCTGCGGTAAGTGAC	0.657																																						ENST00000358196.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999106	0.990000	1.000000																										0				35						c.(142-144)tgC>tgT		glutamate decarboxylase 1 (brain, 67kDa)							50.0	44.0	46.0					2																	171678658		2203	4300	6503	SO:0001630	splice_region_variant	2571	0	0					g.chr2:171678658C>T		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.145+1C>T	chr2.hg19:g.171678658C>T		1					GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Splice_Site_p.C48C|GAD1_ENST00000344257.5_Splice_Site_p.C48C	p.C48C	NM_000817.2	NP_000808.2	1	2	3	2.176613	Q99259	DCE1_HUMAN		3	694	+			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Splice_Site	SNP	ENST00000358196.3	0	0	hg19	c.144C>T	CCDS2239.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000		Silent		16	14		97	91	1		1	1		0	0	10	0		9.999198e-01	2.785809e-01	0	5	0	2	0	16	97
GAD1	2571	broad.mit.edu	37	2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	71					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAAGGAGAGGCAATCCTCCAA	0.542																																						ENST00000358196.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(211-213)Caa>Taa		glutamate decarboxylase 1 (brain, 67kDa)							79.0	85.0	83.0					2																	171686050		2203	4300	6503	SO:0001587	stop_gained	2571	0	0					g.chr2:171686050C>T		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.211C>T	chr2.hg19:g.171686050C>T	ENSP00000350928:p.Gln71*	1					GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*	p.Q71*	NM_000817.2	NP_000808.2	1	2	3	2.176613	Q99259	DCE1_HUMAN		4	761	+			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Nonsense_Mutation	SNP	ENST00000358196.3	0	1	hg19	c.211C>T	CCDS2239.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.113533	0.94339	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.152297	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.5418	19.1006	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341167:Q71X	Q	+	1	0	0	GAD1	171394296	171394296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.483000	0.83821	0.542000	0.68232	CAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-20.000000	1	0.170000				169	168		529	519	0		1	0		0	0	120	0		1	5.327734e-01	0	0	0	7	0	169	529
GAD1	2571	broad.mit.edu	37	2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	268					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTACAAGTACTTCCCGGAAGT	0.517																																						ENST00000358196.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(802-804)Ttc>Ctc		glutamate decarboxylase 1 (brain, 67kDa)							116.0	117.0	116.0					2																	171702066		2203	4300	6503	SO:0001583	missense	2571	0	0					g.chr2:171702066T>C		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.802T>C	chr2.hg19:g.171702066T>C	ENSP00000350928:p.Phe268Leu	1						p.F268L	NM_000817.2	NP_000808.2	1	2	3	2.176613	Q99259	DCE1_HUMAN		8	1352	+			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	1	1	hg19	c.802T>C	CCDS2239.1	1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634935	0.47049	.	.	ENSG00000128683	ENST00000358196	T	0.35236	1.32	5.67	5.67	0.87782	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49571	1.57	0.80722	D	1	P	0.49862	0.929	P	0.50049	0.629	T	0.43442	-0.9391	10	0.66056	D	0.02	-17.3573	15.91	0.79467	0.0:0.0:0.0:1.0	.	268	Q99259	DCE1_HUMAN	L	268	ENSP00000350928:F268L	ENSP00000350928:F268L	F	+	1	0	0	GAD1	171410312	171410312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.141000	0.66446	0.533000	0.62120	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000				87	83		437	431	1		1	0		0	0	122	0		1	2.825376e-02	0	0	0	2	0	87	437
GORASP2	26003	broad.mit.edu	37	2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	39	PDZ.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328																																						ENST00000234160.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				14						c.(115-117)ttT>ttG		golgi reassembly stacking protein 2, 55kDa							107.0	114.0	112.0					2																	171804913		2203	4300	6503	SO:0001583	missense	26003	0	0					g.chr2:171804913T>G		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.117T>G	chr2.hg19:g.171804913T>G	ENSP00000234160:p.Phe39Leu	1					GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L	p.F39L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	1	2	3	2.176613	Q9H8Y8	GORS2_HUMAN		2	932	+			B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	1	1	hg19	c.117T>G	CCDS33325.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583517	0.86748	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.27402	1.67;1.67	5.73	5.73	0.89815	5.73	5.73	0.89815	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67421	-0.5675	10	0.72032	D	0.01	-19.5199	16.3265	0.82983	0.0:0.0:0.0:1.0	.	51;39	B4DKT0;Q9H8Y8	.;GORS2_HUMAN	L	39;51	ENSP00000234160:F39L;ENSP00000410208:F51L	ENSP00000234160:F39L	F	+	3	2	2	GORASP2	171513159	171513159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.313000	0.78055	0.455000	0.32223	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				36	35		224	221	1		1	1		0	0	50	0		1	1	0	73	0	223	0	36	224
CYBRD1	79901	broad.mit.edu	37	2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K|CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	224					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)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498																																						ENST00000321348.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(670-672)tgG>tgA		cytochrome b reductase 1							97.0	89.0	91.0					2																	172411148		2203	4300	6503	SO:0001587	stop_gained	79901	0	0					g.chr2:172411148G>A	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.672G>A	chr2.hg19:g.172411148G>A	ENSP00000319141:p.Trp224*	1					CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	p.W224*	NM_024843.3	NP_079119.3	1	2	3	2.176613	Q53TN4	CYBR1_HUMAN		4	870	+			B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Nonsense_Mutation	SNP	ENST00000321348.4	0	1	hg19	c.672G>A	CCDS2244.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230925|4.230925	0.79688|0.79688	.|.	.|.	ENSG00000071967|ENSG00000071967	ENST00000375252|ENST00000409484;ENST00000321348	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.38973|0.38973	D|D	0.958784|0.958784	D|.	0.63046|.	0.992|.	P|.	0.61592|.	0.891|.	T|.	0.40496|.	-0.9560|.	7|.	0.87932|0.02654	D|T	0|1	-0.5167|-0.5167	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|.	Q53TN4-2|.	.|.	K|X	155|166;224	.|.	ENSP00000364401:E155K|ENSP00000319141:W224X	E|W	+|+	1|3	0|0	0|0	CYBRD1|CYBRD1	172119394|172119394	172119394|172119394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.495000|8.495000	0.90481|0.90481	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GAA|TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_024843			66	66		183	181	0		1	1		0	0	48	0		1	1	0	163	0	648	0	66	183
SLC25A12	8604	broad.mit.edu	37	2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	486					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)			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)	GAGGAAACACGCTTTGGCACC	0.448																																						ENST00000422440.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1456-1458)gCg>gTg		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						96.0	91.0	93.0					2																	172648089		2203	4300	6503	SO:0001583	missense	8604	1	121412	30				g.chr2:172648089G>A	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.1457C>T	chr2.hg19:g.172648089G>A	ENSP00000388658:p.Ala486Val	1					SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	p.A486V	NM_003705.4	NP_003696.2	1	2	3	2.176613	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)	15	1494	-			B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	1	1	hg19	c.1457C>T	CCDS33327.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.449200	0.96205	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.26	6.07	6.07	0.98685	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89034	0.3444	10	0.87932	D	0	-10.5306	20.6593	0.99626	0.0:0.0:1.0:0.0	.	379;486	B3KR64;O75746	.;CMC1_HUMAN	V	486;379	ENSP00000388658:A486V;ENSP00000376371:A379V	ENSP00000376371:A379V	A	-	2	0	0	SLC25A12	172356335	172356335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.885000	0.99019	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_003705			100	99		265	260	1		1	1		0	0	81	0		1	1	0	20	0	59	0	100	265
ITGA6	3655	broad.mit.edu	37	2	173368845	173368845	+	Silent	SNP	C	C	T	rs377166246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000264106.6	+	26	3461	c.3258C>T	c.(3256-3258)taC>taT	p.Y1086Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409532.1_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y			P23229	ITA6_HUMAN	integrin, alpha 6	1086					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)			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)			GCTCTAGGTACGATGACAGTG	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19287	0.0		0.0	False		,,,				2504	0.0					ENST00000264106.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				44						c.(3256-3258)taC>taT		integrin, alpha 6		C	,	1,3697		0,1,1848	55.0	50.0	51.0		,3141	6.0	1.0	2		51	1,8197		0,1,4098	no	utr-3,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,2,5946	TT,TC,CC		0.0122,0.027,0.0168	,	,1047/1092	173368845	2,11894	1849	4099	5948	SO:0001819	synonymous_variant	3655	13	120738	38				g.chr2:173368845C>T		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.3258C>T	chr2.hg19:g.173368845C>T		1					AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|ITGA6_ENST00000375221.2_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR	p.Y1086Y			1	2	3	2.176613	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)	26	3461	+			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	1	1	hg19	c.3258C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-14.534200	1	0.170000				16	16		48	47	1		1	1		0	0	11	0		9.999677e-01	1	0	661	0	663	0	16	48
PDK1	5163	broad.mit.edu	37	2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000543905.1_Missense_Mutation_p.R287H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000410055.1_Missense_Mutation_p.R363H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	363	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.			R -> C (in Ref. 2; ABB29979). {ECO:0000305}.	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)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383									Autosomal Dominant Polycystic Kidney Disease																													ENST00000282077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1087-1089)cGt>cAt		pyruvate dehydrogenase kinase, isozyme 1							134.0	131.0	132.0					2																	173457694		2203	4300	6503	SO:0001583	missense	5163	0	0		Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	g.chr2:173457694G>A	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.1088G>A	chr2.hg19:g.173457694G>A	ENSP00000282077:p.Arg363His	1					PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H	p.R363H			1	2	3	2.176613	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)	10	1270	+			B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	1	1	hg19	c.1088G>A	CCDS2250.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.740561	0.96873	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.8	5.8	0.92144	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099648	0.64402	D	0.000001	T	0.79992	0.4542	H	0.94620	3.56	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61477	0.889;0.874	D	0.85090	0.0951	10	0.87932	D	0	-3.439	20.1182	0.97944	0.0:0.0:1.0:0.0	.	363;383	Q15118;E9PD65	PDK1_HUMAN;.	H	287;208;363;383;363	ENSP00000438567:R287H;ENSP00000437502:R208H;ENSP00000282077:R363H;ENSP00000376352:R383H;ENSP00000386985:R363H	ENSP00000282077:R363H	R	+	2	0	0	PDK1	173165940	173165940	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.775000	0.98995	2.775000	0.95449	0.650000	0.86243	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_002610			123	121		347	341	1		1	1		0	0	97	0		1	1	0	14	0	73	0	123	347
RAPGEF4	11069	broad.mit.edu	37	2	173830410	173830410	+	Splice_Site	SNP	C	C	T	rs376523114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000397081.3	+	9	962	c.819C>T	c.(817-819)caC>caT	p.H273H	RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H|RAPGEF4_ENST00000264111.6_Splice_Site_p.H272H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	273	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTCAACCACGGTAAGATGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21213	0.0		0.001	False		,,,				2504	0.0					ENST00000397081.3	0.640000	0.230000	5.300000e-01	3.100000e-01	0.410000	0.426164	0.410000	0.390000																										0				47						c.(817-819)caC>caT		Rap guanine nucleotide exchange factor (GEF) 4							124.0	125.0	124.0					2																	173830410		2061	4216	6277	SO:0001630	splice_region_variant	11069	4	120984	37				g.chr2:173830410C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.820+1C>T	chr2.hg19:g.173830410C>T		1					RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000264111.6_Splice_Site_p.H272H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H	p.H273H	NM_007023.3	NP_008954.2	1	2	3	2.176613	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)	9	962	+			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	ENST00000397081.3	0	1	hg19	c.819C>T	CCDS42775.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-13.102160	1	0.170000	NM_007023	Silent		14	14		430	422	0		1	0		0	0	78	0		9.997301e-01	4.428855e-02	0	0	0	10	0	14	430
RAPGEF4	11069	broad.mit.edu	37	2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000397081.3	+	11	1204	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388																																						ENST00000397081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1060-1062)aTt>aGt		Rap guanine nucleotide exchange factor (GEF) 4							194.0	185.0	188.0					2																	173848280		1840	4102	5942	SO:0001583	missense	11069	0	0					g.chr2:173848280T>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1061T>G	chr2.hg19:g.173848280T>G	ENSP00000380271:p.Ile354Ser	1					RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S	p.I354S	NM_007023.3	NP_008954.2	1	2	3	2.176613	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)	11	1204	+			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	1	1	hg19	c.1061T>G	CCDS42775.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940936	0.73557	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.08	6.08	0.98989	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.79926	2.475	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.919;0.531;0.999	D;D;P;P;D	0.87578	0.989;0.997;0.771;0.466;0.998	D	0.93435	0.6789	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353S;ENSP00000380271:I354S;ENSP00000387104:I354S;ENSP00000380276:I210S;ENSP00000440135:I183S;ENSP00000440250:I201S;ENSP00000437384:I201S;ENSP00000438011:I134S	ENSP00000264111:I353S	I	+	2	0	0	RAPGEF4	173556526	173556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.333000	0.79357	0.482000	0.46254	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_007023			96	93		478	467	1		1	0		0	0	79	0		1	5.733900e-01	0	1	0	10	0	96	478
RAPGEF4	11069	broad.mit.edu	37	2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000397081.3	+	24	2496	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438																																						ENST00000397081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2353-2355)Tgg>Cgg		Rap guanine nucleotide exchange factor (GEF) 4							122.0	108.0	112.0					2																	173891399		1927	4151	6078	SO:0001583	missense	11069	0	0					g.chr2:173891399T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2353T>C	chr2.hg19:g.173891399T>C	ENSP00000380271:p.Trp785Arg	1					RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R	p.W785R	NM_007023.3	NP_008954.2	1	2	3	2.176613	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)	24	2496	+			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	1	1	hg19	c.2353T>C	CCDS42775.1	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216318	0.79352	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	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	5.42	5.42	0.78866	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.87456	2.885	0.80722	D	1	D;D	0.58268	0.982;0.97	P;D	0.68765	0.799;0.96	T	0.68580	-0.5371	10	0.87932	D	0	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;785	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	784;785;785;641;614;632;632;565;16	ENSP00000264111:W784R;ENSP00000380271:W785R;ENSP00000387104:W785R;ENSP00000380276:W641R;ENSP00000440135:W614R;ENSP00000440250:W632R;ENSP00000437384:W632R;ENSP00000438011:W565R;ENSP00000380274:W16R	ENSP00000264111:W784R	W	+	1	0	0	RAPGEF4	173599645	173599645	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_007023			89	89		381	376	1		1	0		0	0	90	0		1	8.057220e-01	0	0	0	15	0	89	381
RAPGEF4	11069	broad.mit.edu	37	2	173916387	173916387	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000397081.3	+	31	3071	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000538974.1_Silent_p.A805A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	976	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373																																						ENST00000397081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2926-2928)gcT>gcC		Rap guanine nucleotide exchange factor (GEF) 4							94.0	84.0	87.0					2																	173916387		1887	4113	6000	SO:0001819	synonymous_variant	11069	0	0					g.chr2:173916387T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2928T>C	chr2.hg19:g.173916387T>C		1					RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000540783.1_Silent_p.A823A	p.A976A	NM_007023.3	NP_008954.2	1	2	3	2.176613	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)	31	3071	+			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	1	1	hg19	c.2928T>C	CCDS42775.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_007023			49	49		223	217	1		1	1		0	0	50	0		1	6.663916e-01	0	2	0	10	0	49	223
GPR155	151556	broad.mit.edu	37	2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	832	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433																																						ENST00000392552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2494-2496)aGa>aAa		G protein-coupled receptor 155							141.0	146.0	144.0					2																	175300962		2203	4300	6503	SO:0001583	missense	151556	0	0					g.chr2:175300962C>T	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.2495G>A	chr2.hg19:g.175300962C>T	ENSP00000376335:p.Arg832Lys	1					GPR155_ENST00000295500.4_Missense_Mutation_p.R832K|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000459996.1_5'Flank	p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	1	2	3	2.176613	Q7Z3F1	GP155_HUMAN		16	2733	-			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	1	1	hg19	c.2495G>A	CCDS2259.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500226	0.85176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.26518	1.73;1.73;1.73	6.17	6.17	0.99709	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000005	T	0.48333	0.1494	M	0.78223	2.4	0.58432	D	0.999997	D	0.58268	0.982	P	0.54401	0.751	T	0.23655	-1.0182	10	0.35671	T	0.21	-20.6633	20.8794	0.99867	0.0:1.0:0.0:0.0	.	832	Q7Z3F1	GP155_HUMAN	K	832	ENSP00000376335:R832K;ENSP00000376334:R832K;ENSP00000295500:R832K	ENSP00000295500:R832K	R	-	2	0	0	GPR155	175009208	175009208	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.623000	0.74238	2.941000	0.99782	0.655000	0.94253	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	0	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-20.000000	1	0.170000	NM_152529			160	160		775	754	1		1	1		0	0	159	0		1	9.909491e-01	0	6	0	31	0	160	775
WIPF1	7456	broad.mit.edu	37	2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000392547.2	-	4	410	c.311T>C	c.(310-312)tTc>tCc	p.F104S	WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	104					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)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592																																						ENST00000392547.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(310-312)tTc>tCc		WAS/WASL interacting protein family, member 1							129.0	127.0	128.0					2																	175439979		2203	4300	6503	SO:0001583	missense	7456	0	0					g.chr2:175439979A>G	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.311T>C	chr2.hg19:g.175439979A>G	ENSP00000376330:p.Phe104Ser	1					AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S	p.F104S	NM_003387.4	NP_003378.3	1	2	3	2.176613	O43516	WIPF1_HUMAN		4	410	-			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	1	1	hg19	c.311T>C	CCDS2260.1	1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977920	0.92982	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117	D;D;D;D;D;D;T;T	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;2.58;2.58	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.054881	0.64402	D	0.000001	D	0.93726	0.7995	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.994	D	0.94433	0.7651	10	0.66056	D	0.02	.	15.7042	0.77565	1.0:0.0:0.0:0.0	.	104;104;104;104	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	104;104;104;104;104;104;104;101;104	ENSP00000376330:F104S;ENSP00000272746:F104S;ENSP00000352802:F104S;ENSP00000376329:F104S;ENSP00000386431:F104S;ENSP00000387150:F104S;ENSP00000391785:F101S;ENSP00000386757:F104S	ENSP00000272746:F104S	F	-	2	0	0	WIPF1	175148225	175148225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.123000	0.89586	2.113000	0.64589	0.379000	0.24179	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	1	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_003387			300	295		748	720	1		1	1		0	0	160	0		1	1	0	2	0	152	0	300	748
WIPF1	7456	broad.mit.edu	37	2	175440090	175440090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175440090G>A	ENST00000392547.2	-	4	299	c.200C>T	c.(199-201)gCt>gTt	p.A67V	WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	67	Gly-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)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						accgcctccagcaccaGCTCC	0.597																																						ENST00000392547.2	0.380000	0.160000	3.200000e-01	2.000000e-01	0.250000	0.265862	0.250000	0.250000																										0				32						c.(199-201)gCt>gTt		WAS/WASL interacting protein family, member 1							87.0	100.0	95.0					2																	175440090		2203	4300	6503	SO:0001583	missense	7456	0	0					g.chr2:175440090G>A	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.200C>T	chr2.hg19:g.175440090G>A	ENSP00000376330:p.Ala67Val	1					AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V	p.A67V	NM_003387.4	NP_003378.3	1	2	3	2.176613	O43516	WIPF1_HUMAN		4	299	-			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	0	1	hg19	c.200C>T	CCDS2260.1	0	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;2.3;1.57;1.57	4.36	1.47	0.22746	4.36	1.47	0.22746	.	1.527220	0.04604	N	0.399003	T	0.75466	0.3853	L	0.40543	1.245	0.27310	N	0.957345	B;B;B;B	0.24186	0.069;0.099;0.069;0.049	B;B;B;B	0.21917	0.037;0.016;0.037;0.016	T	0.62048	-0.6936	10	0.59425	D	0.04	.	10.3513	0.43937	0.0855:0.5787:0.3358:0.0	.	67;67;67;67	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	V	67;67;67;67;67;67;67;64;67;67	ENSP00000376330:A67V;ENSP00000272746:A67V;ENSP00000352802:A67V;ENSP00000376329:A67V;ENSP00000386431:A67V;ENSP00000387150:A67V;ENSP00000391785:A64V;ENSP00000386757:A67V;ENSP00000388454:A67V	ENSP00000272746:A67V	A	-	2	0	0	WIPF1	175148336	175148336	0.872000	0.30054	0.190000	0.23270	0.109000	0.19521	0.978000	0.29488	0.183000	0.20059	0.462000	0.41574	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	0	0	1		2	2	2	0		0	0	189		189	189	1	2.060000	-2.631427	1	0.170000	NM_003387			22	21		1077	1039	0		1	0		0	0	189	0		9.999980e-01	4.927333e-01	0	0	0	80	0	22	1077
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000261007.5	-	8	1103	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					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.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCTGGGTGAGCGGTGGTGTGT	0.557																																						ENST00000261007.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										2	Substitution - Missense(2)	p.R346L(2)	lung(2)	37						c.(1036-1038)cGc>cAc		cholinergic receptor, nicotinic, alpha 1 (muscle)	Galantamine(DB00674)						171.0	133.0	146.0					2																	175614714		2203	4300	6503	SO:0001583	missense	1134	2	121412	34				g.chr2:175614714C>T	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.1037G>A	chr2.hg19:g.175614714C>T	ENSP00000261007:p.Arg346His	1					CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H	p.R346H	NM_001039523.2	NP_001034612.1	1	2	3	2.176613	P02708	ACHA_HUMAN		8	1103	-			B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	1	1	hg19	c.1037G>A	CCDS33331.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499947	0.85176	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.4	5.4	0.78164	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.94466	0.8219	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94813	0.7980	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	H	321;346;239;321	ENSP00000261008:R321H;ENSP00000261007:R346H;ENSP00000387026:R239H;ENSP00000386611:R321H	ENSP00000261007:R346H	R	-	2	0	0	CHRNA1	175322960	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-19.974610	1	0.170000				49	49		307	303	1		1	0		0	0	77	0		1	5.545054e-01	0	0	0	13	0	49	307
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T	rs202221890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000261007.5	-	2	118	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					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.V18F(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)	GAGCCCAGGACGAGGCCAGCT	0.557																																						ENST00000261007.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V18F(1)	lung(1)	37						c.(52-54)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)	Galantamine(DB00674)						52.0	51.0	51.0					2																	175624353		2203	4300	6503	SO:0001583	missense	1134	3	121412	42				g.chr2:175624353C>T	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.52G>A	chr2.hg19:g.175624353C>T	ENSP00000261007:p.Val18Ile	1					CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I	p.V18I	NM_001039523.2	NP_001034612.1	1	2	3	2.176613	P02708	ACHA_HUMAN		2	118	-			B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	1	1	hg19	c.52G>A	CCDS33331.1	1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445994	0.43429	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;T;T	0.83163	-1.16;-1.28;-1.69;-1.45;-0.79	5.92	3.12	0.35913	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.72953	0.3525	L	0.33189	0.99	0.32774	N	0.50346	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.74241	-0.3729	10	0.37606	T	0.19	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	18	ENSP00000261008:V18I;ENSP00000261007:V18I;ENSP00000387026:V18I;ENSP00000386611:V18I;ENSP00000386684:V18I	ENSP00000261007:V18I	V	-	1	0	0	CHRNA1	175332599	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000				82	81		445	439	0		1	0		0	0	79	0		1	0	0	0	0	1	0	82	445
ATP5G3	518	broad.mit.edu	37	2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H|Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	107					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4	1.000000	0.830000	1	9.800000e-01	0.990000	0.984969	0.990000	1.000000																										0				5						c.(319-321)cCt>cAt		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							97.0	92.0	94.0					2																	176043125		2203	4300	6503	SO:0001583	missense	518	0	0					g.chr2:176043125G>T	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.320C>A	chr2.hg19:g.176043125G>T	ENSP00000284727:p.Pro107His	1					Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H	p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	1	2	3	2.176613	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)	5	3344	-			B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	1	1	hg19	c.320C>A	CCDS2263.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101759	0.76983	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.70164	-0.46;-0.46;-0.46	5.93	5.06	0.68205	5.93	5.06	0.68205	ATPase, F0/V0 complex, subunit C (3);	0.045788	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95152	0.8273	10	0.87932	D	0	-12.4168	17.3342	0.87275	0.0:0.1249:0.8751:0.0	.	107	P48201	AT5G3_HUMAN	H	107	ENSP00000284727:P107H;ENSP00000387317:P107H;ENSP00000376324:P107H	ENSP00000284727:P107H	P	-	2	0	0	ATP5G3	175751371	175751371	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.808000	0.99193	1.525000	0.49052	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.716734	1	0.170000	NM_001689			37	37		373	372	1		1	1		0	0	81	0		1	1	0	258	0	1889	0	37	373
ATP5G3	518	broad.mit.edu	37	2	176046212	176046212	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176046212C>A	ENST00000409194.1	-	2	55		c.e2-1		ATP5G3_ENST00000392541.3_5'UTR|ATP5G3_ENST00000284727.4_Intron			P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGAAAAGAGGCTTAAGGTCAA	0.657																																					GBM(30;387 605 18606 28805 47989)	ENST00000409194.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999878	0.990000	1.000000																										0				5						c.e2-1		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)																																				SO:0001630	splice_region_variant	518	0	0					g.chr2:176046212C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000409194.1:c.90-1G>T	chr2.hg19:g.176046212C>A		1					ATP5G3_ENST00000284727.4_Intron|ATP5G3_ENST00000392541.3_5'UTR				1	2	3	2.176613	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)	2	55	-			B2R4Z0|D3DPF0|Q4ZFX7	Splice_Site	SNP	ENST00000409194.1	0	1	hg19		CCDS2263.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ATP5G3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334493.1	0	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_001689	Intron		12	12		47	47	0		1	0		0	0	9	0		9.994551e-01	1.214525e-01	0	0	0	3	0	12	47
KIAA1715	80856	broad.mit.edu	37	2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	318					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)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423																																						ENST00000272748.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(952-954)Cct>Act		KIAA1715							76.0	74.0	75.0					2																	176802174		2203	4300	6503	SO:0001583	missense	80856	0	0					g.chr2:176802174G>T	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.952C>A	chr2.hg19:g.176802174G>T	ENSP00000272748:p.Pro318Thr	1					KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	p.P318T	NM_030650.1	NP_085153.1	1	2	3	2.176613	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)	12	1199	-			B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	1	1	hg19	c.952C>A	CCDS33332.1	1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926957	0.34002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.049239	0.85682	D	0.000000	T	0.78065	0.4225	M	0.61703	1.905	0.53005	D	0.999968	D;P;D;D	0.76494	0.999;0.93;0.997;0.973	D;P;P;P	0.71656	0.974;0.496;0.879;0.614	T	0.79296	-0.1862	9	0.87932	D	0	-4.2995	19.6271	0.95682	0.0:0.0:1.0:0.0	.	320;349;315;318	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	318;320;195;349;243	.	ENSP00000272748:P318T	P	-	1	0	0	KIAA1715	176510420	176510420	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.299000	0.72770	2.645000	0.89757	0.591000	0.81541	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-3.322967	1	0.170000	XM_042834			60	59		332	331	1		1	1		0	0	54	0		1	9.995340e-01	0	6	0	59	0	60	332
KIAA1715	80856	broad.mit.edu	37	2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	169					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)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403																																						ENST00000272748.4	1.000000	0.660000	1	8.100000e-01	0.990000	0.930839	0.990000	1.000000																										0				20						c.(505-507)cGa>cAa		KIAA1715							114.0	102.0	106.0					2																	176812408		2203	4300	6503	SO:0001583	missense	80856	0	0					g.chr2:176812408C>T	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.506G>A	chr2.hg19:g.176812408C>T	ENSP00000272748:p.Arg169Gln	1					KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	p.R169Q	NM_030650.1	NP_085153.1	1	2	3	2.176613	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)	9	753	-			B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	1	1	hg19	c.506G>A	CCDS33332.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729288	0.89390	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;0.995	D;B;D;P	0.91635	0.999;0.36;0.996;0.629	T	0.79631	-0.1723	9	0.87932	D	0	-8.9298	20.5407	0.99260	0.0:1.0:0.0:0.0	.	171;169;166;169	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	169;171;46;169;94	.	ENSP00000272748:R169Q	R	-	2	0	0	KIAA1715	176520654	176520654	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.769000	0.74985	2.865000	0.98341	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-8.518037	1	0.170000	XM_042834			26	26		310	302	0		1	1		0	0	63	0		9.999999e-01	9.742638e-01	0	6	0	66	0	26	310
KIAA1715	80856	broad.mit.edu	37	2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	97					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)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274																																						ENST00000272748.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999093	0.990000	1.000000																										0				20						c.(289-291)Ttc>Gtc		KIAA1715							22.0	23.0	23.0					2																	176844565		2174	4271	6445	SO:0001583	missense	80856	0	0					g.chr2:176844565A>C	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.289T>G	chr2.hg19:g.176844565A>C	ENSP00000272748:p.Phe97Val	1					KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	p.F97V	NM_030650.1	NP_085153.1	1	2	3	2.176613	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)	5	536	-			B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	1	1	hg19	c.289T>G	CCDS33332.1	1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398115	0.42512	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	5.31	4.12	0.48240	5.31	4.12	0.48240	.	0.250174	0.43416	D	0.000579	T	0.48642	0.1511	L	0.55481	1.735	0.44652	D	0.997638	P;B;D;B	0.54601	0.898;0.284;0.967;0.212	B;B;B;B	0.43950	0.429;0.059;0.437;0.048	T	0.51482	-0.8700	9	0.87932	D	0	-2.4999	9.3517	0.38142	0.8403:0.0:0.0:0.1597	.	99;97;94;97	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	97;99;97;22;92	.	ENSP00000272748:F97V	F	-	1	0	0	KIAA1715	176552811	176552811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.913000	0.36797	0.460000	0.39030	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-9.804354	1	0.170000	XM_042834			14	13		80	80	1		1	1		0	0	27	0		9.998208e-01	9.974961e-01	0	11	0	51	0	14	80
HOXD13	3239	broad.mit.edu	37	2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	300					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CATTAACAAATTCATTAACAA	0.478			T	NUP98	AML*																																	ENST00000392539.3	1.000000	0.580000	1	7.200000e-01	0.900000	0.878173	0.900000	1.000000				Dom	yes			Dom	yes		2	2q31-q32	2q31-q32	3239	T	homeo box D13				L	L	NUP98		AML*		0				6						c.(898-900)Ttc>Gtc		homeobox D13							110.0	100.0	104.0					2																	176959324		2203	4300	6503	SO:0001583	missense	3239	0	0					g.chr2:176959324T>G	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.898T>G	chr2.hg19:g.176959324T>G	ENSP00000376322:p.Phe300Val	1						p.F300V	NM_000523.3	NP_000514.2	1	2	3	2.176613	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	2	898	+				Missense_Mutation	SNP	ENST00000392539.3	1	1	hg19	c.898T>G	CCDS2264.2	1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384994	0.82792	.	.	ENSG00000128714	ENST00000392539	D	0.96011	-3.88	4.99	4.99	0.66335	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97999	0.9341	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	.	15.1492	0.72684	0.0:0.0:0.0:1.0	.	300	P35453	HXD13_HUMAN	V	300	ENSP00000376322:F300V	ENSP00000376322:F300V	F	+	1	0	0	HOXD13	176667570	176667570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.234000	0.73211	0.533000	0.62120	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				21	21		278	272	0		1	0		0	0	64	0		9.999974e-01	0	0	0	0	1	0	21	278
HOXD12	3238	broad.mit.edu	37	2	176964670	176964670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711																																						ENST00000406506.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(139-141)ggC>ggT		homeobox D12							20.0	23.0	22.0					2																	176964670		1796	4038	5834	SO:0001819	synonymous_variant	3238	0	0					g.chr2:176964670C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.141C>T	chr2.hg19:g.176964670C>T		1					HOXD12_ENST00000404162.2_Silent_p.G47G	p.G47G			1	2	3	2.176613	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	1	213	+			B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	1	1	hg19	c.141C>T	CCDS46456.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_021193			135	130		281	276	0		1			0	0	35	0		1	0	0	0	0	0	0	135	281
HOXD12	3238	broad.mit.edu	37	2	176964901	176964901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12	124					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677																																						ENST00000406506.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(370-372)agC>agT		homeobox D12							17.0	20.0	19.0					2																	176964901		1924	4139	6063	SO:0001819	synonymous_variant	3238	0	0					g.chr2:176964901C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.372C>T	chr2.hg19:g.176964901C>T		1					HOXD12_ENST00000404162.2_Silent_p.S124S	p.S124S			1	2	3	2.176613	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	1	444	+			B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	1	1	hg19	c.372C>T	CCDS46456.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_021193			34	34		131	128	0		1			0	0	36	0		1	0	0	0	0	0	0	34	131
RAD51AP2	729475	broad.mit.edu	37	2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	718										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)					TCCACATTCACAACTTGTTGA	0.318																																						ENST00000399080.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2152-2154)Gtg>Atg		RAD51 associated protein 2							80.0	75.0	77.0					2																	17697531		1823	4078	5901	SO:0001583	missense	729475	5	120790	36				g.chr2:17697531C>T	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.2152G>A	chr2.hg19:g.17697531C>T	ENSP00000382030:p.Val718Met	1						p.V718M	NM_001099218.2	NP_001092688.1	1	2	3	2.183349	Q09MP3	R51A2_HUMAN		1	2175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)			Missense_Mutation	SNP	ENST00000399080.2	1	1	hg19	c.2152G>A	CCDS42656.1	1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486189	0.12641	.	.	ENSG00000214842	ENST00000399080	T	0.23552	1.9	4.42	-3.24	0.05094	4.42	-3.24	0.05094	.	.	.	.	.	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.26408	T	0.33	0.3519	5.3879	0.16227	0.0:0.2282:0.2636:0.5082	.	718	Q09MP3	R51A2_HUMAN	M	718	ENSP00000382030:V718M	ENSP00000382030:V718M	V	-	1	0	0	RAD51AP2	17561012	17561012	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-0.656000	0.05380	-0.383000	0.06682	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_001099218			98	94		317	314	1		1			0	0	80	0		1	0	0	0	0	0	0	98	317
RAD51AP2	729475	broad.mit.edu	37	2	17698100	17698100	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	ENST00000399080.2	-	1	1606	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	528										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)					GGTTAAAATACTATTATCTTT	0.239																																						ENST00000399080.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998709	0.990000	1.000000																										0				49						c.(1582-1584)aGt>aAt		RAD51 associated protein 2							17.0	16.0	17.0					2																	17698100		1743	3971	5714	SO:0001583	missense	729475	0	0					g.chr2:17698100C>T	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.1583G>A	chr2.hg19:g.17698100C>T	ENSP00000382030:p.Ser528Asn	1						p.S528N	NM_001099218.2	NP_001092688.1	1	2	3	2.183349	Q09MP3	R51A2_HUMAN		1	1606	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)			Missense_Mutation	SNP	ENST00000399080.2	0	1	hg19	c.1583G>A	CCDS42656.1	1	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349205	0.05173	.	.	ENSG00000214842	ENST00000399080	T	0.24538	1.85	4.69	-1.83	0.07833	4.69	-1.83	0.07833	.	.	.	.	.	T	0.12561	0.0305	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.27938	-1.0059	9	0.48119	T	0.1	0.6513	6.2097	0.20621	0.0:0.3851:0.1301:0.4848	.	528	Q09MP3	R51A2_HUMAN	N	528	ENSP00000382030:S528N	ENSP00000382030:S528N	S	-	2	0	0	RAD51AP2	17561581	17561581	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.121000	0.10643	-0.266000	0.09339	0.563000	0.77884	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.239	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.248180	1	0.170000	NM_001099218			10	10		50	49	1		1			0	0	15	0		9.974950e-01	0	0	0	0	0	0	10	50
RAD51AP2	729475	broad.mit.edu	37	2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	399										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)					ATATGTCTAACGTTACAGTCC	0.328																																						ENST00000399080.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1195-1197)Gtt>Att		RAD51 associated protein 2							54.0	53.0	53.0					2																	17698488		1805	4076	5881	SO:0001583	missense	729475	2	120776	30				g.chr2:17698488C>T	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.1195G>A	chr2.hg19:g.17698488C>T	ENSP00000382030:p.Val399Ile	1						p.V399I	NM_001099218.2	NP_001092688.1	1	2	3	2.183349	Q09MP3	R51A2_HUMAN		1	1218	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)			Missense_Mutation	SNP	ENST00000399080.2	1	1	hg19	c.1195G>A	CCDS42656.1	1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788986	0.02884	.	.	ENSG00000214842	ENST00000399080	T	0.25912	1.77	4.22	0.373	0.16178	4.22	0.373	0.16178	.	.	.	.	.	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.05620	T	0.96	.	5.0445	0.14477	0.0:0.3547:0.1593:0.486	.	399	Q09MP3	R51A2_HUMAN	I	399	ENSP00000382030:V399I	ENSP00000382030:V399I	V	-	1	0	0	RAD51AP2	17561969	17561969	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.865000	0.27940	0.245000	0.21373	-0.440000	0.05779	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-19.997280	1	0.170000	NM_001099218			46	46		258	254	1		1			0	0	64	0		1	0	0	0	0	0	0	46	258
HOXD12	3238	broad.mit.edu	37	2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12	220					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567																																						ENST00000406506.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				10						c.(658-660)Gaa>Aaa		homeobox D12							35.0	37.0	36.0					2																	176965333		1963	4166	6129	SO:0001583	missense	3238	1	120876	32				g.chr2:176965333G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.658G>A	chr2.hg19:g.176965333G>A	ENSP00000385586:p.Glu220Lys	1					HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q	p.E220K			1	2	3	2.176613	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	2	730	+			B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	1	1	hg19	c.658G>A	CCDS46456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.512092|3.512092	0.64522|0.64522	.|.	.|.	ENSG00000170178|ENSG00000170178	ENST00000406506|ENST00000404162	D|.	0.96365|.	-3.99|.	5.29|5.29	5.29|5.29	0.74685|0.74685	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83413|0.83413	0.5249|0.5249	M|M	0.82132|0.82132	2.575|2.575	0.39921|0.39921	D|D	0.974155|0.974155	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.83275	0.999|0.996	D|D	0.86338|0.86338	0.1703|0.1703	10|8	0.87932|0.87932	D|D	0|0	.|.	18.9681|18.9681	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|229	P35452|B5MCD3	HXD12_HUMAN|.	K|Q	220|229	ENSP00000385586:E220K|.	ENSP00000385586:E220K|ENSP00000385132:R229Q	E|R	+|+	1|2	0|0	0|0	HOXD12|HOXD12	176673579|176673579	176673579|176673579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GAA|CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_021193			21	21		99	96	1		1			0	0	14	0		9.999984e-01	0	0	0	0	0	0	21	99
HOXD9	3235	broad.mit.edu	37	2	176987568	176987568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	24					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)			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)		ACGTGGACTCGCTTATAGGCC	0.687																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				10						c.(70-72)tcG>tcA		homeobox D9							30.0	29.0	29.0					2																	176987568		2203	4300	6503	SO:0001819	synonymous_variant	3235	0	0					g.chr2:176987568G>A		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.72G>A	chr2.hg19:g.176987568G>A		1					HOXD-AS2_ENST00000440016.2_RNA	p.S24S	NM_014213.3	NP_055028.3	1	2	3	2.176613	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	1	481	+			Q86ST1	Silent	SNP	ENST00000249499.6	1	1	hg19	c.72G>A	CCDS2267.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				28	28		147	147	0		1	0		0	0	26	0		1	0	0	0	0	1	0	28	147
HOXD8	3234	broad.mit.edu	37	2	176995386	176995386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176995386G>A	ENST00000313173.4	+	1	919	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	98					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)		CCACCCCGGCGGGGGCAGCCC	0.796																																						ENST00000313173.4	0.450000	0.100000	3.500000e-01	1.600000e-01	0.240000	0.262312	0.240000	0.240000																										0				9						c.(292-294)Ggg>Agg		homeobox D8							13.0	17.0	16.0					2																	176995386		1566	3366	4932	SO:0001583	missense	3234	0	0					g.chr2:176995386G>A		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.292G>A	chr2.hg19:g.176995386G>A	ENSP00000315949:p.Gly98Arg	1					HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron	p.G98R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	1	2	3	2.176613	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	1	919	+			F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	0	1	hg19	c.292G>A	CCDS2268.1	0	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925318	0.52759	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	D;D;D	0.91631	-2.88;-2.76;-2.76	3.8	2.91	0.33838	3.8	2.91	0.33838	.	0.227351	0.28841	N	0.013975	T	0.80518	0.4638	N	0.08118	0	0.27208	N	0.959996	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.68334	-0.5436	10	0.30078	T	0.28	.	8.0588	0.30621	0.2098:0.0:0.7902:0.0	.	98;98	Q8IXZ1;P13378	.;HXD8_HUMAN	R	98	ENSP00000315949:G98R;ENSP00000437431:G98R;ENSP00000409026:G98R	ENSP00000315949:G98R	G	+	1	0	0	HOXD8	176703632	176703632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.658000	0.37376	0.729000	0.32403	0.442000	0.29010	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.796	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1	0	0	1		2	2	2	0		0	0	46		46	40	1	2.060000	-7.012735	1	0.170000				7	7		377	323	0		1			0	0	46	0		9.676593e-01	0	0	0	0	0	0	7	377
VSNL1	7447	broad.mit.edu	37	2	17773500	17773500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398																																						ENST00000406397.1	1.000000	0.760000	1	8.700000e-01	0.990000	0.952757	0.990000	1.000000																										0				13						c.(157-159)gtG>gtA		visinin-like 1							142.0	135.0	137.0					2																	17773500		2203	4300	6503	SO:0001819	synonymous_variant	7447	0	0					g.chr2:17773500G>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.159G>A	chr2.hg19:g.17773500G>A		1					VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V	p.V53V			1	2	3	2.183349	P62760	VISL1_HUMAN		2	684	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	1	1	hg19	c.159G>A	CCDS1689.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-13.195170	1	0.170000	NM_003385			57	56		673	659	0		1	0		0	0	106	0		1	2.757164e-01	0	1	0	12	0	57	673
HOXD4	3233	broad.mit.edu	37	2	177016490	177016490	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	ENST00000306324.3	+	1	541	c.129C>T	c.(127-129)ggC>ggT	p.G43G	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	43					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)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGCGCAGGGCGCAGACTTCC	0.716																																						ENST00000306324.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(127-129)ggC>ggT		homeobox D4							18.0	21.0	20.0					2																	177016490		2186	4238	6424	SO:0001819	synonymous_variant	3233	0	0					g.chr2:177016490C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.129C>T	chr2.hg19:g.177016490C>T		1					HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	p.G43G	NM_014621.2	NP_055436.2	1	2	3	2.176613	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	1	541	+			B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	0	1	hg19	c.129C>T	CCDS2269.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				45	44		202	195	0		1			0	0	44	0		1	0	0	0	0	0	0	45	202
TTC30B	150737	broad.mit.edu	37	2	178415760	178415760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	578					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				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)			TCTGTTCCCAGCTTTTTGTTG	0.368																																						ENST00000408939.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1732-1734)Ctg>Ttg		tetratricopeptide repeat domain 30B							154.0	160.0	158.0					2																	178415760		2203	4300	6503	SO:0001819	synonymous_variant	150737	0	0					g.chr2:178415760G>A	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.1732C>T	chr2.hg19:g.178415760G>A		1						p.L578L	NM_152517.2	NP_689730.2	1	2	3	2.176613	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)	1	1982	-			Q63HQ1|Q96NE6	Silent	SNP	ENST00000408939.3	1	1	hg19	c.1732C>T	CCDS42784.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	0	0	1		2	2	2	0		0	0	218		218	214	1	2.060000	-20.000000	1	0.170000	NM_152517			283	279		868	851	0		1	1		0	0	218	0		1	9.959506e-01	0	10	0	18	0	283	868
TTC30A	92104	broad.mit.edu	37	2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	411					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				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)			CATTCACTGCCTTTTTGATAG	0.428																																						ENST00000355689.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1231-1233)aaG>aaT		tetratricopeptide repeat domain 30A							238.0	240.0	239.0					2																	178482197		2203	4300	6503	SO:0001583	missense	92104	0	0					g.chr2:178482197C>A	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.1233G>T	chr2.hg19:g.178482197C>A	ENSP00000347915:p.Lys411Asn	1					AC073834.3_ENST00000357045.4_RNA	p.K411N	NM_152275.3	NP_689488.3	1	2	3	2.176613	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)	1	1497	-			A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	1	1	hg19	c.1233G>T	CCDS2276.1	1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241587	0.10077	.	.	ENSG00000197557	ENST00000355689	T	0.38722	1.12	5.91	0.404	0.16355	5.91	0.404	0.16355	Tetratricopeptide-like helical (1);	0.042836	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.48571	D	0.999674	P	0.52842	0.956	P	0.50754	0.649	T	0.26710	-1.0095	10	0.38643	T	0.18	.	5.8059	0.18440	0.121:0.4448:0.0:0.4342	.	411	Q86WT1	TT30A_HUMAN	N	411	ENSP00000347915:K411N	ENSP00000347915:K411N	K	-	3	2	2	TTC30A	178190443	178190443	0.995000	0.38212	0.418000	0.26571	0.130000	0.20726	0.333000	0.19768	-0.209000	0.10156	-0.194000	0.12790	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	1	0	1		2	2	2	0		0	0	214		214	241	1	2.060000	-20.000000	1	0.170000	NM_152275			245	240		918	908	0		1	1		0	0	214	0		1	9.784938e-01	0	8	0	17	0	245	918
TTC30A	92104	broad.mit.edu	37	2	178483101	178483101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.5	-	1	593	c.329C>T	c.(328-330)gCc>gTc	p.A110V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	110					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				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)			GCTGTGGTAGGCGGGGTTATC	0.637																																						ENST00000355689.5	0.850000	0.330000	7.100000e-01	4.300000e-01	0.560000	0.577963	0.560000	0.540000																										0				30						c.(328-330)gCc>gTc		tetratricopeptide repeat domain 30A							37.0	41.0	40.0					2																	178483101		2203	4300	6503	SO:0001583	missense	92104	0	0					g.chr2:178483101G>A	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.329C>T	chr2.hg19:g.178483101G>A	ENSP00000347915:p.Ala110Val	1					AC073834.3_ENST00000357045.4_RNA	p.A110V	NM_152275.3	NP_689488.3	1	2	3	2.176613	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)	1	593	-			A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	0	1	hg19	c.329C>T	CCDS2276.1	0	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300224	0.40694	.	.	ENSG00000197557	ENST00000355689	T	0.78816	-1.21	6.03	6.03	0.97812	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.311741	0.39083	N	0.001467	T	0.75191	0.3816	L	0.48642	1.525	0.47862	D	0.999533	B	0.17268	0.021	B	0.20767	0.031	T	0.66917	-0.5802	10	0.32370	T	0.25	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	110	Q86WT1	TT30A_HUMAN	V	110	ENSP00000347915:A110V	ENSP00000347915:A110V	A	-	2	0	0	TTC30A	178191347	178191347	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.468000	0.53086	2.868000	0.98415	0.555000	0.69702	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-17.047700	1	0.170000	NM_152275			16	16		354	344	0		1	0		0	0	66	0		9.999217e-01	1.505107e-01	0	0	0	15	0	16	354
TTC30A	92104	broad.mit.edu	37	2	178483364	178483364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	22					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				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)			GGGCATCGCGGATGAGCCGGT	0.672																																						ENST00000355689.5	1.000000	0.890000	1	9.900000e-01	0.990000	0.993875	0.990000	1.000000																										0				30						c.(64-66)atC>atA		tetratricopeptide repeat domain 30A							11.0	13.0	13.0					2																	178483364		2134	4240	6374	SO:0001819	synonymous_variant	92104	0	0					g.chr2:178483364G>T	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.66C>A	chr2.hg19:g.178483364G>T		1					AC073834.3_ENST00000357045.4_RNA	p.I22I	NM_152275.3	NP_689488.3	1	2	3	2.176613	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)	1	330	-			A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	0	1	hg19	c.66C>A	CCDS2276.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-18.756020	1	0.170000	NM_152275			11	11		75	74	1		1	0		0	0	21	0		9.986124e-01	5.243446e-02	0	1	0	2	0	11	75
PDE11A	50940	broad.mit.edu	37	2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					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)			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)	ATGAACATCCGGAGAGCAGCT	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial				G|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.0		0.0	False		,,,				2504	0.001					ENST00000286063.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1885-1887)Cgg>Tgg		phosphodiesterase 11A	Caffeine(DB00201)|Tadalafil(DB00820)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	86.0	88.0		553,1135,811,1885	5.5	1.0	2	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	185/490,379/684,271/576,629/934	178592804	1,13005	2203	4300	6503	SO:0001583	missense	50940	18	121412	45	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	g.chr2:178592804G>A	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.1885C>T	chr2.hg19:g.178592804G>A	ENSP00000286063:p.Arg629Trp	1					PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	p.R629W	NM_016953.3	NP_058649.3	1	2	3	2.176613	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)	11	2202	-			Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	1	1	hg19	c.1885C>T	CCDS33334.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376199	0.82682	2.27E-4	0.0	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	5.54	5.54	0.83059	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.979	D	0.89515	0.3774	10	0.87932	D	0	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	379;629	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	W	629;379;271;185;271	ENSP00000286063:R629W;ENSP00000351232:R379W;ENSP00000386539:R271W;ENSP00000374333:R185W;ENSP00000390599:R271W	ENSP00000286063:R629W	R	-	1	2	2	PDE11A	178301050	178301050	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.344000	0.59354	2.609000	0.88269	0.563000	0.77884	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-9.288366	1	0.170000				97	96		202	200	1		1	1		0	0	42	0		1	6.290969e-01	0	3	0	3	0	97	202
RBM45	129831	broad.mit.edu	37	2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			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)			CATGGCCAGTGCCTCGGCCCC	0.657																																						ENST00000286070.5	1.000000	0.540000	1	6.700000e-01	0.830000	0.830988	0.830000	1.000000																										0				27						c.(268-270)tGc>tAc		RNA binding motif protein 45							45.0	45.0	45.0					2																	178977542		2203	4300	6503	SO:0001583	missense	129831	0	0					g.chr2:178977542G>A	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.269G>A	chr2.hg19:g.178977542G>A	ENSP00000286070:p.Cys90Tyr	1						p.C90Y	NM_152945.2	NP_694453.2	1	2	3	2.176613	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)	1	361	+			Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	1	1	hg19	c.269G>A	CCDS33335.1	0	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187412	0.57909	.	.	ENSG00000155636	ENST00000286070	D	0.85556	-2.0	4.73	2.9	0.33743	4.73	2.9	0.33743	.	0.230414	0.43919	N	0.000503	T	0.74122	0.3675	N	0.03983	-0.305	0.44595	D	0.997569	D	0.54207	0.965	P	0.51135	0.66	T	0.77517	-0.2558	10	0.66056	D	0.02	-5.4128	9.7539	0.40492	0.169:0.0:0.831:0.0	.	90	Q8IUH3-3	.	Y	90	ENSP00000286070:C90Y	ENSP00000286070:C90Y	C	+	2	0	0	RBM45	178685788	178685788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.216000	0.58540	1.122000	0.41944	0.563000	0.77884	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_152945			23	23		332	327	0		1	1		0	0	81	0		9.999993e-01	5.958753e-01	0	4	0	26	0	23	332
OSBPL6	114880	broad.mit.edu	37	2	179192982	179192982	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			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)			TTTTCTCTCAGGAAGCTGACA	0.393																																						ENST00000190611.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.e5-1		oxysterol binding protein-like 6							110.0	117.0	115.0					2																	179192982		2203	4300	6503	SO:0001630	splice_region_variant	114880	0	0					g.chr2:179192982G>A	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.196-1G>A	chr2.hg19:g.179192982G>A		1					OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site		NM_032523.3	NP_115912.1	1	2	3	2.176613	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)	5	571	+			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	1	1	hg19		CCDS2277.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248864	0.80024	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	OSBPL6	178901228	178901228	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.350000	0.97070	2.577000	0.86979	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-2.967848	1	0.170000	NM_032523	Intron		94	91		510	498	1		1			0	0	107	0		1	0	0	0	0	0	0	94	510
OSBPL6	114880	broad.mit.edu	37	2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	651					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			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)			ATTCAACCCAGTCCTTGGGGA	0.448																																						ENST00000190611.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1951-1953)Gtc>Ttc		oxysterol binding protein-like 6							239.0	237.0	238.0					2																	179248841		2203	4300	6503	SO:0001583	missense	114880	0	0					g.chr2:179248841G>T	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.1951G>T	chr2.hg19:g.179248841G>T	ENSP00000190611:p.Val651Phe	1					OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F	p.V651F	NM_032523.3	NP_115912.1	1	2	3	2.176613	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)	18	2327	+			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	1	1	hg19	c.1951G>T	CCDS2277.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955235	0.92726	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.056980	0.64402	D	0.000001	T	0.61311	0.2337	M	0.87328	2.875	0.80722	D	1	B;P;D;D;P	0.56287	0.272;0.551;0.975;0.969;0.837	B;B;P;P;B	0.61070	0.209;0.283;0.883;0.613;0.435	T	0.65088	-0.6253	10	0.62326	D	0.03	-13.4894	20.2985	0.98592	0.0:0.0:1.0:0.0	.	620;655;615;676;651	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	676;615;620;651;615;655	ENSP00000376293:V676F;ENSP00000352713:V615F;ENSP00000387248:V620F;ENSP00000190611:V651F;ENSP00000386885:V615F;ENSP00000318723:V655F	ENSP00000190611:V651F	V	+	1	0	0	OSBPL6	178957087	178957087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.793000	0.96121	0.655000	0.94253	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1		2	2	2	0		0	0	309		309	306	1	2.060000	-20.000000	1	0.170000	NM_032523			238	236		1253	1230	1		1	1		0	0	309	0		1	6.793237e-01	0	6	0	8	0	238	1253
OSBPL6	114880	broad.mit.edu	37	2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	763					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			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)			ATTTGCAAACTCACATTTGTC	0.338																																						ENST00000190611.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2287-2289)cTc>cCc		oxysterol binding protein-like 6							96.0	82.0	87.0					2																	179253867		2203	4300	6503	SO:0001583	missense	114880	0	0					g.chr2:179253867T>C	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.2288T>C	chr2.hg19:g.179253867T>C	ENSP00000190611:p.Leu763Pro	1					OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P	p.L763P	NM_032523.3	NP_115912.1	1	2	3	2.176613	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)	21	2664	+			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	1	1	hg19	c.2288T>C	CCDS2277.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577262	0.86645	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.059218	0.64402	D	0.000001	T	0.72867	0.3514	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.992;0.966;0.999;0.992	P;D;P;D;D	0.69479	0.894;0.921;0.894;0.964;0.915	T	0.81095	-0.1088	10	0.87932	D	0	-11.915	16.1778	0.81874	0.0:0.0:0.0:1.0	.	732;767;727;788;763	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	788;727;732;763;727;767	ENSP00000376293:L788P;ENSP00000352713:L727P;ENSP00000387248:L732P;ENSP00000190611:L763P;ENSP00000386885:L727P;ENSP00000318723:L767P	ENSP00000190611:L763P	L	+	2	0	0	OSBPL6	178962113	178962113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_032523			65	62		148	143	0		1	1		0	0	42	0		1	9.372340e-01	0	6	0	7	0	65	148
DFNB59	494513	broad.mit.edu	37	2	179318256	179318256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179318256G>A	ENST00000409117.3	+	2	476	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000438687.3_5'Flank|PRKRA_ENST00000487082.1_5'Flank|DFNB59_ENST00000375129.4_Silent_p.K40K|PRKRA_ENST00000325748.4_5'Flank|PRKRA_ENST00000432031.2_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	40					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGGTAAAAAAGAAGCGATGCT	0.388																																						ENST00000409117.3			0	0																														0				18						c.(118-120)aaG>aaA		deafness, autosomal recessive 59							103.0	93.0	96.0					2																	179318256		1846	4093	5939	SO:0001819	synonymous_variant	494513	0	0					g.chr2:179318256G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.120G>A	chr2.hg19:g.179318256G>A							DFNB59_ENST00000375129.4_Silent_p.K40K|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000325748.4_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000438687.3_5'Flank	p.K40K	NM_001042702.3	NP_001036167.1					Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)	2	476	+			A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	1	0	hg19	c.120G>A	CCDS42787.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.388	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				74	66		212	211	1		1	0		0	0	48	0		1	6.848328e-02	0	0	0	2	0	74	212
FKBP7	51661	broad.mit.edu	37	2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	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)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATAGCAATGTCTAGGCCTTT	0.398																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2	1.000000	0.180000	4.900000e-01	2.500000e-01	0.340000	0.405760	0.340000	0.320000																										0				8						c.(289-291)gAc>gCc		FK506 binding protein 7							91.0	91.0	91.0					2																	179341872		2203	4300	6503	SO:0001583	missense	51661	0	0					g.chr2:179341872T>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.290A>C	chr2.hg19:g.179341872T>G	ENSP00000413152:p.Asp97Ala	1					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A	p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	1	2	3	2.111737	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)	2	348	-			Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	1	1	hg19	c.290A>C	CCDS2280.1	0	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677742	0.88445	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58797	0.31;0.31	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.042037	0.85682	D	0.000000	T	0.81394	0.4813	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.959;0.998	D	0.85766	0.1352	10	0.87932	D	0	-2.8742	16.19	0.81981	0.0:0.0:0.0:1.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	97	ENSP00000413152:D97A;ENSP00000415486:D97A	ENSP00000233092:D97A	D	-	2	0	0	FKBP7	179050118	179050118	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	0	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.150998	1	0.170000	NM_181342			13	13		491	489	0		1	0		0	0	67	0		9.995308e-01	7.106367e-01	0	1	0	93	0	13	491
TTN	7273	broad.mit.edu	37	2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000591111.1	-	310	101941	c.101717C>A	c.(101716-101718)tCt>tAt	p.S33906Y	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35547Y|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33906					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)			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)			AATTTCTTCAGACCTTAGGGC	0.393																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(101716-101718)tCt>tAt		titin							58.0	55.0	56.0					2																	179393838		1814	4069	5883	SO:0001583	missense	7273	0	0					g.chr2:179393838G>T	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.101717C>A	chr2.hg19:g.179393838G>T	ENSP00000465570:p.Ser33906Tyr	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35547Y|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.S33906Y			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	310	101941	-			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	1	1	hg19	c.101717C>A		1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689384	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;0.14;0.12;0.11	5.54	5.54	0.83059	5.54	5.54	0.83059	Ribonuclease H-like (1);	.	.	.	.	T	0.70334	0.3212	N	0.19112	0.55	0.39804	D	0.972609	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.71656	0.974;0.974;0.974;0.974	T	0.75431	-0.3320	9	0.87932	D	0	.	14.9955	0.71428	0.0:0.0:1.0:0.0	.	26482;26607;26674;33906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	32979;26482;26674;26607;26479	ENSP00000343764:S32979Y;ENSP00000434586:S26482Y;ENSP00000340554:S26674Y;ENSP00000352154:S26607Y	ENSP00000340554:S26674Y	S	-	2	0	0	TTN	179102084	179102084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.390000	0.66261	2.607000	0.88179	0.655000	0.94253	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_133378			43	43		130	128	1		1			0	0	33	0		1	0	0	0	0	0	0	43	130
TTN	7273	broad.mit.edu	37	2	179395508	179395508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000591111.1	-	308	101135	c.100911G>A	c.(100909-100911)caG>caA	p.Q33637Q	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.Q35278Q|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33637					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)			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)			CTGGGAGGTGCTGAACTTTCT	0.458																																						ENST00000591111.1	1.000000	0.320000	9.200000e-01	4.500000e-01	0.630000	0.665780	0.630000	1.000000																										0				1448						c.(100909-100911)caG>caA		titin							139.0	137.0	138.0					2																	179395508		1933	4119	6052	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179395508C>T	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.100911G>A	chr2.hg19:g.179395508C>T		1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.Q35278Q|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.Q33637Q			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	308	101135	-			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	1	1	hg19	c.100911G>A		0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-4.446827	1	0.170000	NM_133378			10	10		203	197	0		1			0	0	30	0		9.966298e-01	0	0	0	0	0	0	10	203
TTN	7273	broad.mit.edu	37	2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A	rs376175862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000591111.1	-	308	100450	c.100226G>T	c.(100225-100227)aGa>aTa	p.R33409I	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35050I|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33409					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)			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)			GAAAACAGATCTGGGGACCTC	0.473																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(100225-100227)aGa>aTa		titin							125.0	123.0	124.0					2																	179396193		1924	4139	6063	SO:0001583	missense	7273	0	0					g.chr2:179396193C>A	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.100226G>T	chr2.hg19:g.179396193C>A	ENSP00000465570:p.Arg33409Ile	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35050I|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.R33409I			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	308	100450	-			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	1	1	hg19	c.100226G>T		1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129850	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.17;0.22	5.45	2.63	0.31362	5.45	2.63	0.31362	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.19112	0.55	0.36256	D	0.854247	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.22386	0.015;0.015;0.029;0.039	T	0.41124	-0.9526	9	0.87932	D	0	.	5.9207	0.19080	0.0:0.6427:0.1392:0.2181	.	25985;26110;26177;33409	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32482;25985;26177;26110;25982	ENSP00000343764:R32482I;ENSP00000434586:R25985I;ENSP00000340554:R26177I;ENSP00000352154:R26110I	ENSP00000340554:R26177I	R	-	2	0	0	TTN	179104439	179104439	0.568000	0.26635	0.800000	0.32199	0.836000	0.47400	0.994000	0.29693	0.253000	0.21552	0.650000	0.86243	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_133378			107	102		326	321	0		1	1		0	0	93	0		1	6.927791e-01	0	2	0	7	0	107	326
TTN	7273	broad.mit.edu	37	2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000591111.1	-	308	99799	c.99575C>T	c.(99574-99576)gCg>gTg	p.A33192V	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A34833V|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33192	Poly-Ser.				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)			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)			TAGTCTAGACGCAGATGAGGA	0.453																																						ENST00000591111.1	1.000000	0.900000	1	9.900000e-01	0.990000	0.994426	0.990000	1.000000																										0				1448						c.(99574-99576)gCg>gTg		titin							97.0	90.0	92.0					2																	179396844		1990	4168	6158	SO:0001583	missense	7273	0	0					g.chr2:179396844G>A	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.99575C>T	chr2.hg19:g.179396844G>A	ENSP00000465570:p.Ala33192Val	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A34833V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.A33192V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	308	99799	-			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	1	1	hg19	c.99575C>T		1	.	.	.	.	.	.	.	.	.	.	G	3.741	-0.053536	0.07362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.6;0.58;0.57	5.55	3.04	0.35103	5.55	3.04	0.35103	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.28665	0.0710	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	9	0.87932	D	0	.	7.9077	0.29771	0.6567:0.0:0.3433:0.0	.	25768;25893;25960;33192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32265;25768;25960;25893;25765	ENSP00000343764:A32265V;ENSP00000434586:A25768V;ENSP00000340554:A25960V;ENSP00000352154:A25893V	ENSP00000340554:A25960V	A	-	2	0	0	TTN	179105090	179105090	0.860000	0.29831	0.051000	0.19133	0.336000	0.28762	1.809000	0.38922	0.334000	0.23590	-0.355000	0.07637	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_133378			25	24		213	206	1		1			0	0	42	0		9.999998e-01	0	0	0	0	0	0	25	213
TTN	7273	broad.mit.edu	37	2	179401007	179401007	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000591111.1	-	307	95768	c.95544T>C	c.(95542-95544)tcT>tcC	p.S31848S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.S33489S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31848	Fibronectin type-III 131. {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)			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)			TTGGGACATCAGATTTGGGAG	0.413																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(95542-95544)tcT>tcC		titin							85.0	79.0	81.0					2																	179401007		1878	4112	5990	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179401007A>G	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.95544T>C	chr2.hg19:g.179401007A>G		1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.S33489S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.S31848S			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	307	95768	-			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	1	1	hg19	c.95544T>C		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_133378			35	34		98	97	1		1			0	0	30	0		1	0	0	0	0	0	0	35	98
TTN	7273	broad.mit.edu	37	2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000591111.1	-	304	94323	c.94099C>T	c.(94099-94101)Ctt>Ttt	p.L31367F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33008F|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31367	Fibronectin type-III 129. {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)			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)			GATATTGAAAGAATCTCAAGT	0.373																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(94099-94101)Ctt>Ttt		titin							115.0	108.0	110.0					2																	179403534		1878	4107	5985	SO:0001583	missense	7273	0	0					g.chr2:179403534G>A	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.94099C>T	chr2.hg19:g.179403534G>A	ENSP00000465570:p.Leu31367Phe	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33008F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.L31367F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	304	94323	-			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	1	1	hg19	c.94099C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821590	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.72	5.72	0.89469	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57681	0.2070	L	0.53729	1.69	0.31624	N	0.649877	P;P;P;D	0.54397	0.934;0.934;0.934;0.966	P;P;P;P	0.49637	0.617;0.617;0.617;0.617	T	0.66288	-0.5961	9	0.87932	D	0	.	13.2697	0.60153	0.0:0.0:0.7415:0.2584	.	23943;24068;24135;31367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30440;23943;24135;24068;23940	ENSP00000343764:L30440F;ENSP00000434586:L23943F;ENSP00000340554:L24135F;ENSP00000352154:L24068F	ENSP00000340554:L24135F	L	-	1	0	0	TTN	179111780	179111780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.343000	0.59348	2.878000	0.98634	0.650000	0.86243	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_133378			161	161		407	391	0		1	1		0	0	123	0		1	9.518329e-01	0	7	0	8	0	161	407
TTN	7273	broad.mit.edu	37	2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000591111.1	-	303	94189	c.93965T>G	c.(93964-93966)gTt>gGt	p.V31322G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32963G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31322	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)			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)			AGCATCGGGAACAAGCCCTGT	0.488																																						ENST00000591111.1	1.000000	0.350000	8.100000e-01	4.600000e-01	0.600000	0.633813	0.600000	0.570000																										0				1448						c.(93964-93966)gTt>gGt		titin							222.0	230.0	227.0					2																	179403774		2143	4231	6374	SO:0001583	missense	7273	0	0					g.chr2:179403774A>C	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.93965T>G	chr2.hg19:g.179403774A>C	ENSP00000465570:p.Val31322Gly	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32963G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.V31322G			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	303	94189	-			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	1	1	hg19	c.93965T>G		0	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060845	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70902	0.3277	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.73672	-0.3909	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	23898;24023;24090;31322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30395;23898;24090;24023;23895	ENSP00000343764:V30395G;ENSP00000434586:V23898G;ENSP00000340554:V24090G;ENSP00000352154:V24023G	ENSP00000340554:V24090G	V	-	2	0	0	TTN	179112020	179112020	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.440000	0.80464	2.324000	0.78689	0.533000	0.62120	GTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-4.398827	1	0.170000	NM_133378			16	16		338	334	0		1	0		0	0	48	0		9.999317e-01	2.121495e-01	0	0	0	18	0	16	338
TTN	7273	broad.mit.edu	37	2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	rs146098114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000591111.1	-	298	92410	c.92186C>A	c.(92185-92187)aCt>aAt	p.T30729N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32370N|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30729	Ig-like 138.				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)			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)			ATCTCTGATAGTGGTTTCACG	0.393																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(92185-92187)aCt>aAt		titin							236.0	224.0	228.0					2																	179407472		1887	4125	6012	SO:0001583	missense	7273	6	120842	42				g.chr2:179407472G>T	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.92186C>A	chr2.hg19:g.179407472G>T	ENSP00000465570:p.Thr30729Asn	1					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32370N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.T30729N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	298	92410	-			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	1	1	hg19	c.92186C>A		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.819888	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	5.67	0.87782	5.67	5.67	0.87782	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	0.75591	0.3870	L	0.31120	0.905	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	0.77822	-0.2445	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23305;23430;23497;30729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29802;23305;23497;23430;23302	ENSP00000343764:T29802N;ENSP00000434586:T23305N;ENSP00000340554:T23497N;ENSP00000352154:T23430N	ENSP00000340554:T23497N	T	-	2	0	0	TTN	179115718	179115718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.903000	0.87398	2.677000	0.91161	0.655000	0.94253	ACT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-20.000000	1	0.170000	NM_133378			155	154		756	747	1		1	0		0	0	150	0		1	1.381942e-01	0	0	0	4	0	155	756
TTN	7273	broad.mit.edu	37	2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000591111.1	-	292	90289	c.90065C>A	c.(90064-90066)tCt>tAt	p.S30022Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31663Y|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30022	Ig-like 136.				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)			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)			ATACTGCAAAGAGACTTTTTC	0.448																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(90064-90066)tCt>tAt		titin							158.0	155.0	156.0					2																	179411070		1935	4135	6070	SO:0001583	missense	7273	0	0					g.chr2:179411070G>T	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.90065C>A	chr2.hg19:g.179411070G>T	ENSP00000465570:p.Ser30022Tyr	1					TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31663Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.S30022Y			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	292	90289	-			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	1	1	hg19	c.90065C>A		1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424982	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.66	5.66	0.87406	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82646	0.5082	M	0.75447	2.3	0.46521	D	0.999088	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.83925	0.0303	9	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	22598;22723;22790;30022	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	29095;22598;22790;22723;22595	ENSP00000343764:S29095Y;ENSP00000434586:S22598Y;ENSP00000340554:S22790Y;ENSP00000352154:S22723Y	ENSP00000340554:S22790Y	S	-	2	0	0	TTN	179119316	179119316	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.545000	0.73883	2.657000	0.90304	0.655000	0.94253	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-6.737663	1	0.170000	NM_133378			184	181		547	536	1		1	0		0	0	119	0		1	1.593256e-01	0	1	0	2	0	184	547
TTN	7273	broad.mit.edu	37	2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000591111.1	-	289	88749	c.88525C>T	c.(88525-88527)Ctt>Ttt	p.L29509F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31150F|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29509	Fibronectin type-III 115. {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)			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)			CTCATTTCAAGCAGGTAGCCA	0.463																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(88525-88527)Ctt>Ttt		titin							155.0	160.0	158.0					2																	179412905		1971	4157	6128	SO:0001583	missense	7273	0	0					g.chr2:179412905G>A	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.88525C>T	chr2.hg19:g.179412905G>A	ENSP00000465570:p.Leu29509Phe	1					RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31150F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.L29509F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	289	88749	-			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	1	1	hg19	c.88525C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538536	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.65	4.76	0.60689	5.65	4.76	0.60689	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66723	0.2818	M	0.70595	2.14	0.38867	D	0.956614	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.51777	0.679;0.679;0.679;0.628	T	0.73830	-0.3859	9	0.87932	D	0	.	13.6656	0.62393	0.0:0.0:0.7186:0.2814	.	22085;22210;22277;29509	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28582;22085;22277;22210;22082	ENSP00000343764:L28582F;ENSP00000434586:L22085F;ENSP00000340554:L22277F;ENSP00000352154:L22210F	ENSP00000340554:L22277F	L	-	1	0	0	TTN	179121151	179121151	1.000000	0.71417	0.926000	0.36857	0.991000	0.79684	2.820000	0.48057	1.354000	0.45846	-0.182000	0.12963	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	173		173	173	1	2.060000	-20.000000	1	0.170000	NM_133378			284	278		843	826	1		1	0		0	0	173	0		1	0	0	0	0	1	0	284	843
TTN	7273	broad.mit.edu	37	2	179414764	179414764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179414764C>A	ENST00000591111.1	-	287	87102	c.86878G>T	c.(86878-86880)Gcc>Tcc	p.A28960S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30601S|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28960	Ig-like 133.				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)			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)			GCATTTTTGGCTTCCACTGTG	0.383																																						ENST00000591111.1	1.000000	0.190000	5.100000e-01	2.600000e-01	0.360000	0.419462	0.360000	0.340000																										0				1448						c.(86878-86880)Gcc>Tcc		titin							140.0	138.0	139.0					2																	179414764		1861	4092	5953	SO:0001583	missense	7273	0	0					g.chr2:179414764C>A	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.86878G>T	chr2.hg19:g.179414764C>A	ENSP00000465570:p.Ala28960Ser	1					RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30601S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.A28960S			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	287	87102	-			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	0	1	hg19	c.86878G>T		0	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611908	0.87258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	5.74	5.74	0.90152	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);	.	.	.	.	D	0.92299	0.7557	H	0.95539	3.685	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	D	0.93650	0.6972	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21536;21661;21728;28960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28033;21536;21728;21661;21533	ENSP00000343764:A28033S;ENSP00000434586:A21536S;ENSP00000340554:A21728S;ENSP00000352154:A21661S	ENSP00000340554:A21728S	A	-	1	0	0	TTN	179123010	179123010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		21	2	2	1		1	1	66		66	65	1	2.060000	-3.371940	1	0.170000	NM_133378			12	12		436	422	0		0	0		1	0	66	0		6.394845e-02	0	0	0	0	1	0	12	436
TTN	7273	broad.mit.edu	37	2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000591111.1	-	285	85657	c.85433C>T	c.(85432-85434)cCa>cTa	p.P28478L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30119L|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28478	Fibronectin type-III 107. {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)			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)			CACTGTAATTGGCCCAATAGT	0.438																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				1448						c.(85432-85434)cCa>cTa		titin							72.0	69.0	70.0					2																	179417271		1908	4124	6032	SO:0001583	missense	7273	0	0					g.chr2:179417271G>A	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.85433C>T	chr2.hg19:g.179417271G>A	ENSP00000465570:p.Pro28478Leu	1					RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30119L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.P28478L			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	285	85657	-			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	1	1	hg19	c.85433C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088870	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.06;-0.11;-0.09	5.76	5.76	0.90799	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.69307	0.905;0.905;0.905;0.963	D	0.86867	0.2033	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21054;21179;21246;28478	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27551;21054;21246;21179;21051	ENSP00000343764:P27551L;ENSP00000434586:P21054L;ENSP00000340554:P21246L;ENSP00000352154:P21179L	ENSP00000340554:P21246L	P	-	2	0	0	TTN	179125517	179125517	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.956000	0.87863	2.882000	0.98803	0.655000	0.94253	CCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_133378			32	33		171	166	1		1			0	0	33	0		1	0	0	0	0	0	0	32	171
TTN	7273	broad.mit.edu	37	2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000591111.1	-	283	84484	c.84260C>T	c.(84259-84261)gCt>gTt	p.A28087V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29728V|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28087	Fibronectin type-III 104. {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)			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)			AGGATCAGCAGCTTTGTAGAA	0.398																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(84259-84261)gCt>gTt		titin							62.0	62.0	62.0					2																	179418655		1925	4139	6064	SO:0001583	missense	7273	0	0					g.chr2:179418655G>A	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.84260C>T	chr2.hg19:g.179418655G>A	ENSP00000465570:p.Ala28087Val	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29728V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.A28087V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	283	84484	-			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	1	1	hg19	c.84260C>T		1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673021	0.88445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.61	5.61	0.85477	5.61	5.61	0.85477	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70491	0.3230	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71331	-0.4625	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20663;20788;20855;28087	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	27160;20663;20855;20788;20660	ENSP00000343764:A27160V;ENSP00000434586:A20663V;ENSP00000340554:A20855V;ENSP00000352154:A20788V	ENSP00000340554:A20855V	A	-	2	0	0	TTN	179126901	179126901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.793000	0.96121	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_133378			41	40		191	187	1		1			0	0	37	0		1	0	0	0	0	0	0	41	191
TTN	7273	broad.mit.edu	37	2	179418886	179418886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418886G>T	ENST00000591111.1	-	283	84253	c.84029C>A	c.(84028-84030)aCt>aAt	p.T28010N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T29651N|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28010	Fibronectin type-III 104. {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)			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)			CCATACAACAGTCATCGAATT	0.418																																						ENST00000591111.1	1.000000	0.220000	4.900000e-01	2.900000e-01	0.370000	0.430194	0.370000	0.360000																										0				1448						c.(84028-84030)aCt>aAt		titin							177.0	171.0	173.0					2																	179418886		1924	4145	6069	SO:0001583	missense	7273	0	0					g.chr2:179418886G>T	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.84029C>A	chr2.hg19:g.179418886G>T	ENSP00000465570:p.Thr28010Asn	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T29651N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.T28010N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	283	84253	-			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	0	1	hg19	c.84029C>A		0	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105073	0.77096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.61	5.61	0.85477	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	M	0.78285	2.405	0.58432	D	0.999992	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	0.79907	-0.1605	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20586;20711;20778;28010	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27083;20586;20778;20711;20583	ENSP00000343764:T27083N;ENSP00000434586:T20586N;ENSP00000340554:T20778N;ENSP00000352154:T20711N	ENSP00000340554:T20778N	T	-	2	0	0	TTN	179127132	179127132	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.842000	0.62831	2.793000	0.96121	0.655000	0.94253	ACT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.282568	1	0.170000	NM_133378			20	19		684	674	0		1			0	0	119	0		9.999943e-01	0	0	0	0	0	0	20	684
TTN	7273	broad.mit.edu	37	2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000591111.1	-	282	84004	c.83780A>G	c.(83779-83781)cAc>cGc	p.H27927R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29568R|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27927	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)			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)			CACAATGTAGTGAGTGATTTT	0.468																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(83779-83781)cAc>cGc		titin							107.0	109.0	109.0					2																	179419371		2033	4183	6216	SO:0001583	missense	7273	0	0					g.chr2:179419371T>C	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.83780A>G	chr2.hg19:g.179419371T>C	ENSP00000465570:p.His27927Arg	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29568R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.H27927R			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	282	84004	-			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	1	1	hg19	c.83780A>G		1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710933	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.66	5.66	0.87406	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	0.64832	0.2634	L	0.37897	1.145	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	0.67848	-0.5564	9	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	20503;20628;20695;27927	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27000;20503;20695;20628;20500	ENSP00000343764:H27000R;ENSP00000434586:H20503R;ENSP00000340554:H20695R;ENSP00000352154:H20628R	ENSP00000340554:H20695R	H	-	2	0	0	TTN	179127617	179127617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	CAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	85		85	82	1	2.060000	-20.000000	1	0.170000	NM_133378			181	178		401	392	1		1			0	0	85	0		1	0	0	0	0	0	0	181	401
TTN	7273	broad.mit.edu	37	2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	rs143193258	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000591111.1	-	281	83815	c.83591G>A	c.(83590-83592)cGc>cAc	p.R27864H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29505H|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27864	Ig-like 130.				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)			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)			ACTATTAAGGCGATCGGCATC	0.428													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(83590-83592)cGc>cAc		titin							90.0	86.0	87.0					2																	179419672		1937	4135	6072	SO:0001583	missense	7273	6	120842	34				g.chr2:179419672C>T	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.83591G>A	chr2.hg19:g.179419672C>T	ENSP00000465570:p.Arg27864His	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29505H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R27864H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	281	83815	-			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	1	1	hg19	c.83591G>A		1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.48	3.633142	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	5.66	5.66	0.87406	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	0.65101	0.2659	M	0.62154	1.92	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	0.65389	-0.6180	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20440;20565;20632;27864	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26937;20440;20632;20565;20437	ENSP00000343764:R26937H;ENSP00000434586:R20440H;ENSP00000340554:R20632H;ENSP00000352154:R20565H	ENSP00000340554:R20632H	R	-	2	0	0	TTN	179127918	179127918	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_133378			46	46		167	165	1		1			0	0	32	0		1	0	0	0	0	0	0	46	167
TTN	7273	broad.mit.edu	37	2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000591111.1	-	278	82591	c.82367C>T	c.(82366-82368)gCt>gTt	p.A27456V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29097V|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27456					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)			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)			CAGGTTCTCAGCAGTAATTTC	0.433																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(82366-82368)gCt>gTt		titin							112.0	108.0	110.0					2																	179422791		1892	4116	6008	SO:0001583	missense	7273	0	0					g.chr2:179422791G>A	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.82367C>T	chr2.hg19:g.179422791G>A	ENSP00000465570:p.Ala27456Val	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29097V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.A27456V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	278	82591	-			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	1	1	hg19	c.82367C>T		1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329266	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	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	0.42921	0.1224	N	0.25332	0.735	0.53005	D	0.999964	P;P;P;D	0.53619	0.925;0.925;0.925;0.961	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.40608	-0.9554	9	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	20032;20157;20224;27456	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26529;20032;20224;20157;20029	ENSP00000343764:A26529V;ENSP00000434586:A20032V;ENSP00000340554:A20224V;ENSP00000352154:A20157V	ENSP00000340554:A20224V	A	-	2	0	0	TTN	179131037	179131037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_133378			156	153		464	459	1		1			0	0	113	0		1	0	0	0	0	0	0	156	464
TTN	7273	broad.mit.edu	37	2	179425926	179425926	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000591111.1	-	276	80234	c.80010C>T	c.(80008-80010)taC>taT	p.Y26670Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28311Y|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26670	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)			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)			TTACTTCAAAGTATGTTTCTT	0.428																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(80008-80010)taC>taT		titin							84.0	77.0	79.0					2																	179425926		1918	4119	6037	SO:0001819	synonymous_variant	7273	1	120856	27				g.chr2:179425926G>A	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.80010C>T	chr2.hg19:g.179425926G>A		1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28311Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.Y26670Y			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	80234	-			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	1	1	hg19	c.80010C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_133378			64	63		276	268	1		1			0	0	48	0		1	0	0	0	0	0	0	64	276
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25286	Ig-like 124.				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)			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)			TTTCTTCAACGTTTACTCTTG	0.393																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(75856-75858)aaC>aaT		titin							163.0	152.0	156.0					2																	179430078		1854	4099	5953	SO:0001819	synonymous_variant	7273	1	120816	35				g.chr2:179430078G>A	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.75858C>T	chr2.hg19:g.179430078G>A		1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.N25286N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	76082	-			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	1	1	hg19	c.75858C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_133378			190	189		451	445	1		1			0	0	142	0		1	0	0	0	0	0	0	190	451
TTN	7273	broad.mit.edu	37	2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000591111.1	-	276	75707	c.75483G>T	c.(75481-75483)gaG>gaT	p.E25161D	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26802D|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25161	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)			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)			GTTCAGGTTTCTCCCACATAA	0.493																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(75481-75483)gaG>gaT		titin							186.0	178.0	180.0					2																	179430453		1997	4177	6174	SO:0001583	missense	7273	0	0					g.chr2:179430453C>A	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.75483G>T	chr2.hg19:g.179430453C>A	ENSP00000465570:p.Glu25161Asp	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26802D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.E25161D			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	75707	-			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	1	1	hg19	c.75483G>T		1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110340	0.20714	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	3.9	0.45041	5.72	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39279	0.1072	L	0.37850	1.14	0.40100	D	0.976354	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31308	-0.9948	9	0.87932	D	0	.	5.4379	0.16492	0.1388:0.6031:0.0:0.2582	.	17737;17862;17929;25161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	24234;17737;17929;17862;17735	ENSP00000343764:E24234D;ENSP00000434586:E17737D;ENSP00000340554:E17929D;ENSP00000352154:E17862D	ENSP00000340554:E17929D	E	-	3	2	2	TTN	179138699	179138699	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.217000	0.17603	0.747000	0.32809	0.484000	0.47621	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000	NM_133378			285	277		693	682	1		1	0		0	0	168	0		1	8.520546e-02	0	0	0	2	0	285	693
TTN	7273	broad.mit.edu	37	2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000591111.1	-	276	73110	c.72886G>A	c.(72886-72888)Gta>Ata	p.V24296I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25937I|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24296	Fibronectin type-III 76. {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)			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)			ACATCCCATACTGTGGTGGTT	0.393																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(72886-72888)Gta>Ata		titin							94.0	90.0	92.0					2																	179433050		1875	4103	5978	SO:0001583	missense	7273	0	0					g.chr2:179433050C>T	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.72886G>A	chr2.hg19:g.179433050C>T	ENSP00000465570:p.Val24296Ile	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25937I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V24296I			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	73110	-			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	1	1	hg19	c.72886G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341799	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.64	2.59	0.31030	5.64	2.59	0.31030	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41926	0.1180	L	0.33485	1.01	0.25217	N	0.989934	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.42766	-0.9432	9	0.87932	D	0	.	10.9367	0.47249	0.0:0.6307:0.2998:0.0695	.	16872;16997;17064;24296	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23369;16872;17064;16997;16870	ENSP00000343764:V23369I;ENSP00000434586:V16872I;ENSP00000340554:V17064I;ENSP00000352154:V16997I	ENSP00000340554:V17064I	V	-	1	0	0	TTN	179141296	179141296	0.690000	0.27699	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	1.356000	0.45884	0.655000	0.94253	GTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_133378			66	64		209	207	1		1			0	0	57	0		1	0	0	0	0	0	0	66	209
TTN	7273	broad.mit.edu	37	2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000591111.1	-	276	72477	c.72253G>A	c.(72253-72255)Ggt>Agt	p.G24085S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25726S|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24085	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)			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)			TTACTGCCACCATCATGTTCA	0.413																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(72253-72255)Ggt>Agt		titin							193.0	188.0	190.0					2																	179433683		1995	4168	6163	SO:0001583	missense	7273	0	0					g.chr2:179433683C>T	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.72253G>A	chr2.hg19:g.179433683C>T	ENSP00000465570:p.Gly24085Ser	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25726S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.G24085S			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	72477	-			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	1	1	hg19	c.72253G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921098	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.74	5.74	0.90152	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80099	0.4561	M	0.91818	3.245	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	0.83892	0.0285	9	0.87932	D	0	.	19.8963	0.96963	0.0:1.0:0.0:0.0	.	16661;16786;16853;24085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23158;16661;16853;16786;16659	ENSP00000343764:G23158S;ENSP00000434586:G16661S;ENSP00000340554:G16853S;ENSP00000352154:G16786S	ENSP00000340554:G16853S	G	-	1	0	0	TTN	179141929	179141929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-3.221898	1	0.170000	NM_133378			118	115		693	678	1		1			0	0	158	0		1	0	0	0	0	0	0	118	693
TTN	7273	broad.mit.edu	37	2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A	rs549745098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000591111.1	-	276	72222	c.71998C>T	c.(71998-72000)Cgt>Tgt	p.R24000C	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25641C|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24000	Fibronectin type-III 74. {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)			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)			GTGGCTTCACGTTTCTCAACA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21273	0.001		0.0	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(71998-72000)Cgt>Tgt		titin							207.0	209.0	209.0					2																	179433938		1860	4086	5946	SO:0001583	missense	7273	2	120798	38				g.chr2:179433938G>A	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.71998C>T	chr2.hg19:g.179433938G>A	ENSP00000465570:p.Arg24000Cys	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25641C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R24000C			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	72222	-			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	1	1	hg19	c.71998C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986746	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	4.94	0.65067	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78097	0.4230	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.82444	-0.0454	9	0.87932	D	0	.	16.8246	0.85927	0.0:0.1288:0.8712:0.0	.	16576;16701;16768;24000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23073;16576;16768;16701;16574	ENSP00000343764:R23073C;ENSP00000434586:R16576C;ENSP00000340554:R16768C;ENSP00000352154:R16701C	ENSP00000340554:R16768C	R	-	1	0	0	TTN	179142184	179142184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.720000	0.74723	1.415000	0.47037	0.650000	0.86243	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	243		243	242	1	2.060000	-9.069192	1	0.170000	NM_133378			328	326		962	944	1		1			0	0	243	0		1	0	0	0	0	0	0	328	962
TTN	7273	broad.mit.edu	37	2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000591111.1	-	276	71489	c.71265C>A	c.(71263-71265)taC>taA	p.Y23755*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25396*|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23755	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AAGCCTTTTGGTAAGCAGAAG	0.433																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(71263-71265)taC>taA		titin							111.0	105.0	106.0					2																	179434671		1874	4104	5978	SO:0001587	stop_gained	7273	0	0					g.chr2:179434671G>T	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.71265C>A	chr2.hg19:g.179434671G>T	ENSP00000465570:p.Tyr23755*	1					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25396*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.Y23755*			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	71489	-			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	0	1	hg19	c.71265C>A		1	.	.	.	.	.	.	.	.	.	.	G	63	75.056652	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	3.26	0.37387	6.03	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4014	0.16299	0.2655:0.0:0.6036:0.1309	.	.	.	.	X	22828;16331;16523;16456;16329	.	ENSP00000340554:Y16523X	Y	-	3	2	2	TTN	179142917	179142917	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.980000	0.49321	0.422000	0.26005	0.655000	0.94253	TAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_133378			46	42		244	240	1		1			0	0	37	0		1	0	0	0	0	0	0	46	244
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T	rs187392843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000591111.1	-	273	63956	c.63732G>A	c.(63730-63732)tcG>tcA	p.S21244S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.S22885S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 54. {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)			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)			TCCAAGACTTCGAAGGTAGAT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19969	0.0		0.001	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(63730-63732)tcG>tcA		titin							161.0	141.0	148.0					2																	179442498		1921	4136	6057	SO:0001819	synonymous_variant	7273	1	120844	37				g.chr2:179442498C>T	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.63732G>A	chr2.hg19:g.179442498C>T		1					RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.S22885S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.S21244S			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	273	63956	-			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	1	1	hg19	c.63732G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-8.217628	1	0.170000	NM_133378			99	99		234	231	1		1	0		0	0	62	0		1	0	0	1	0	0	0	99	234
TTN	7273	broad.mit.edu	37	2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000591111.1	-	269	62766	c.62542G>A	c.(62542-62544)Gat>Aat	p.D20848N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22489N|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20848	Fibronectin type-III 51. {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)			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)			GTCAGGAAATCAACTACATAT	0.413																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999669	0.990000	1.000000																										0				1448						c.(62542-62544)Gat>Aat		titin							113.0	105.0	107.0					2																	179444459		1901	4115	6016	SO:0001583	missense	7273	0	0					g.chr2:179444459C>T	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.62542G>A	chr2.hg19:g.179444459C>T	ENSP00000465570:p.Asp20848Asn	1					RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22489N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.D20848N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	269	62766	-			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	1	1	hg19	c.62542G>A		1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826684	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	5.38	5.38	0.77491	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62344	0.2420	L	0.39898	1.24	0.54753	D	0.999988	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	T	0.64575	-0.6375	9	0.87932	D	0	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	13424;13549;13616;20848	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19921;13424;13616;13549;13422	ENSP00000343764:D19921N;ENSP00000434586:D13424N;ENSP00000340554:D13616N;ENSP00000352154:D13549N	ENSP00000340554:D13616N	D	-	1	0	0	TTN	179152705	179152705	1.000000	0.71417	0.981000	0.43875	0.862000	0.49288	7.729000	0.84864	2.666000	0.90696	0.462000	0.41574	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-17.691190	1	0.170000	NM_133378			47	47		370	363	1		1	1		0	0	80	0		1	1.450661e-01	0	2	0	4	0	47	370
TTN	7273	broad.mit.edu	37	2	179446443	179446443	+	Silent	SNP	G	G	A	rs146502705	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179446443G>A	ENST00000591111.1	-	266	61853	c.61629C>T	c.(61627-61629)ggC>ggT	p.G20543G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.G13119G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G19616G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G13311G|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G13244G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.G22184G|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20543	Fibronectin type-III 49. {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)			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)			TAGGGCTGCCGCCGTCATAGG	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				1448						c.(61627-61629)ggC>ggT		titin							26.0	27.0	27.0					2																	179446443		1894	4107	6001	SO:0001819	synonymous_variant	7273	2	120622	31				g.chr2:179446443G>A	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.61629C>T	chr2.hg19:g.179446443G>A		1					TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.G19616G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G13119G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.G22184G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.G13311G|TTN_ENST00000359218.5_Silent_p.G13244G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.G20543G			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	266	61853	-			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	1	0	hg19	c.61629C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0		2	2	2	0		0	0	18		18	17	1	2.060000	-14.807250	1	0.170000	NM_133378			20	20		81	77	1		1			0	0	18	0		9.999967e-01	0	0	0	0	0	0	20	81
TTN	7273	broad.mit.edu	37	2	179454805	179454805	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000591111.1	-	254	56948	c.56724C>A	c.(56722-56724)atC>atA	p.I18908I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.I20549I|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18908	Ig-like 107.				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)			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)			TCTTAGCTGAGATGATATACT	0.448																																						ENST00000591111.1	1.000000	0.830000	1	9.800000e-01	0.990000	0.985325	0.990000	1.000000																										0				1448						c.(56722-56724)atC>atA		titin							126.0	122.0	123.0					2																	179454805		1927	4142	6069	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179454805G>T	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.56724C>A	chr2.hg19:g.179454805G>T		1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN_ENST00000589042.1_Silent_p.I20549I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.I18908I			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	254	56948	-			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	1	1	hg19	c.56724C>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_133378			37	37		372	369	0		1			0	0	83	0		1	0	0	0	0	0	0	37	372
TTN	7273	broad.mit.edu	37	2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000591111.1	-	254	56913	c.56689G>T	c.(56689-56691)Gaa>Taa	p.E18897*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20538*|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18897	Ig-like 107.				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)			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)			CTAACAGCTTCTTTAATTTGT	0.448																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(56689-56691)Gaa>Taa		titin							141.0	138.0	139.0					2																	179454840		1924	4119	6043	SO:0001587	stop_gained	7273	0	0					g.chr2:179454840C>A	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.56689G>T	chr2.hg19:g.179454840C>A	ENSP00000465570:p.Glu18897*	1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20538*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.E18897*			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	254	56913	-			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	0	1	hg19	c.56689G>T		1	.	.	.	.	.	.	.	.	.	.	C	61	54.036070	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5172	0.39113	0.1431:0.7861:0.0:0.0708	.	.	.	.	X	17970;11473;11665;11598;11471	.	ENSP00000340554:E11665X	E	-	1	0	0	TTN	179163086	179163086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.784000	0.62411	2.844000	0.97970	0.650000	0.86243	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_133378			155	155		338	332	1		1			0	0	95	0		1	0	0	0	0	0	0	155	338
TTN	7273	broad.mit.edu	37	2	179455352	179455352	+	Missense_Mutation	SNP	C	C	T	rs141973925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	ENST00000591111.1	-	254	56401	c.56177G>A	c.(56176-56178)cGg>cAg	p.R18726Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20367Q|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {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)			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)			TTTGATGGGCCGGCAAGCTTT	0.433													C|||	6	0.00119808	0.0008	0.0029	5008	,	,		22262	0.0		0.003	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(56176-56178)cGg>cAg		titin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,3765		0,5,1880	109.0	107.0	107.0		33905,53396,34280,34481	6.1	1.0	2	dbSNP_134	107	35,8191		0,35,4078	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,40,5958	TT,TC,CC		0.4255,0.1326,0.3334	probably-damaging,probably-damaging,probably-damaging,probably-damaging	11302/26927,17799/33424,11427/27052,11494/27119	179455352	40,11956	1885	4113	5998	SO:0001583	missense	7273	461	120840	60				g.chr2:179455352C>T	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.56177G>A	chr2.hg19:g.179455352C>T	ENSP00000465570:p.Arg18726Gln	1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN_ENST00000589042.1_Missense_Mutation_p.R20367Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.R18726Q			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	254	56401	-			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	1	0	hg19	c.56177G>A		1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	15.40	2.821552	0.50633	0.001326	0.004255	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	6.11	6.11	0.99139	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60818	0.2298	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.59101	-0.7517	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17799;11302;11494;11427;11300	ENSP00000343764:R17799Q;ENSP00000434586:R11302Q;ENSP00000340554:R11494Q;ENSP00000352154:R11427Q	ENSP00000340554:R11494Q	R	-	2	0	0	TTN	179163598	179163598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.976000	0.70484	2.906000	0.99361	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		18	2	2	1		1	1	119		119	118	1	2.060000	-3.121529	1	0.170000	NM_133378			106	104		524	510	1		1			1	0	119	0		1	0	0	0	0	0	0	106	524
TTN	7273	broad.mit.edu	37	2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000591111.1	-	252	55113	c.54889G>A	c.(54889-54891)Gct>Act	p.A18297T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19938T|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18297	Fibronectin type-III 32. {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)			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)			AGATGCTTAGCGAAGTGACTC	0.473																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(54889-54891)Gct>Act		titin							81.0	79.0	79.0					2																	179456819		1933	4139	6072	SO:0001583	missense	7273	1	120790	30				g.chr2:179456819C>T	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.54889G>A	chr2.hg19:g.179456819C>T	ENSP00000465570:p.Ala18297Thr	1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN_ENST00000589042.1_Missense_Mutation_p.A19938T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A18297T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	252	55113	-			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	1	1	hg19	c.54889G>A		1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563683	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.03	6.03	0.97812	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70046	0.3179	L	0.55017	1.72	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.67103	0.909;0.909;0.909;0.949	T	0.69734	-0.5065	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10873;10998;11065;18297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17370;10873;11065;10998;10871	ENSP00000343764:A17370T;ENSP00000434586:A10873T;ENSP00000340554:A11065T;ENSP00000352154:A10998T	ENSP00000340554:A11065T	A	-	1	0	0	TTN	179165065	179165065	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.059000	0.57470	2.868000	0.98415	0.557000	0.71058	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_133378			32	32		150	149	1		1			0	0	38	0		1	0	0	0	0	0	0	32	150
TTN	7273	broad.mit.edu	37	2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000591111.1	-	250	54415	c.54191G>A	c.(54190-54192)cGt>cAt	p.R18064H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19705H|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18064	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)			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)			ACCATCATGACGTGGTGGCTG	0.418																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(54190-54192)cGt>cAt		titin							155.0	150.0	151.0					2																	179457732		1913	4132	6045	SO:0001583	missense	7273	3	120856	40				g.chr2:179457732C>T	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.54191G>A	chr2.hg19:g.179457732C>T	ENSP00000465570:p.Arg18064His	1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN_ENST00000589042.1_Missense_Mutation_p.R19705H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.R18064H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	250	54415	-			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	1	1	hg19	c.54191G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018629	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	6.16	0.99307	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69824	0.3154	L	0.58428	1.81	0.50632	D	0.999883	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62491	0.903;0.903;0.903;0.903	T	0.69183	-0.5212	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10640;10765;10832;18064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17137;10640;10832;10765;10638	ENSP00000343764:R17137H;ENSP00000434586:R10640H;ENSP00000340554:R10832H;ENSP00000352154:R10765H	ENSP00000340554:R10832H	R	-	2	0	0	TTN	179165978	179165978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.937000	0.99478	0.650000	0.86243	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	164		164	161	1	2.060000	-20.000000	1	0.170000	NM_133378			239	236		600	595	0		1			0	0	164	0		1	0	0	0	0	0	0	239	600
TTN	7273	broad.mit.edu	37	2	179458402	179458402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458402G>A	ENST00000591111.1	-	248	53926	c.53702C>T	c.(53701-53703)tCt>tTt	p.S17901F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S19542F|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17901	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)			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)			AAGTAGTTTAGAAACTTTGCA	0.368																																						ENST00000591111.1	1.000000	0.280000	7.300000e-01	3.900000e-01	0.520000	0.568559	0.520000	0.490000																										0				1448						c.(53701-53703)tCt>tTt		titin							100.0	94.0	96.0					2																	179458402		1848	4092	5940	SO:0001583	missense	7273	0	0					g.chr2:179458402G>A	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.53702C>T	chr2.hg19:g.179458402G>A	ENSP00000465570:p.Ser17901Phe	1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN_ENST00000589042.1_Missense_Mutation_p.S19542F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.S17901F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	248	53926	-			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	0	1	hg19	c.53702C>T		0	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239923	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	6.02	0.97574	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.47078	1.49	0.39337	D	0.965512	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.22;0.22;0.353;0.353	T	0.63976	-0.6515	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	10477;10602;10669;17901	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16974;10477;10669;10602;10475	ENSP00000343764:S16974F;ENSP00000434586:S10477F;ENSP00000340554:S10669F;ENSP00000352154:S10602F	ENSP00000340554:S10669F	S	-	2	0	0	TTN	179166648	179166648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.769000	0.98969	2.857000	0.98124	0.650000	0.86243	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-13.769510	1	0.170000	NM_133378			13	13		318	312	0		1			0	0	40	0		9.995021e-01	0	0	0	0	0	0	13	318
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	C	T	rs370091658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000591111.1	-	247	53492	c.53268G>A	c.(53266-53268)acG>acA	p.T17756T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.T19397T|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17756	Ig-like 104.				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)			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)			CAACTCGAATCGTGAGCTTAT	0.418																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(53266-53268)acG>acA		titin		C	,,,	0,3814		0,0,1907	72.0	67.0	69.0		30996,50487,31371,31572	-12.3	0.0	2		69	1,8249		0,1,4124	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	,,,	10332/26927,16829/33424,10457/27052,10524/27119	179458929	1,12063	1907	4125	6032	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179458929C>T	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.53268G>A	chr2.hg19:g.179458929C>T		1					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN_ENST00000589042.1_Silent_p.T19397T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.T17756T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	247	53492	-			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	1	1	hg19	c.53268G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_133378			53	52		253	250	1		1			0	0	49	0		1	0	0	0	0	0	0	53	253
TTN	7273	broad.mit.edu	37	2	179462481	179462481	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	ENST00000591111.1	-	244	52629	c.52405A>T	c.(52405-52407)Atc>Ttc	p.I17469F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I19110F|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17469	Ig-like 103.				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)			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)			ATGATTCGGATCACCCCTCCA	0.453																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(52405-52407)Atc>Ttc		titin							132.0	118.0	123.0					2																	179462481		2009	4194	6203	SO:0001583	missense	7273	0	0					g.chr2:179462481T>A	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.52405A>T	chr2.hg19:g.179462481T>A	ENSP00000465570:p.Ile17469Phe	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN_ENST00000589042.1_Missense_Mutation_p.I19110F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.I17469F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	244	52629	-			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	1	1	hg19	c.52405A>T		1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535285	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.07	6.07	0.98685	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	0.62672	0.2447	L	0.57130	1.785	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	0.64639	-0.6360	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	10045;10170;10237;17469	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16542;10045;10237;10170;10043	ENSP00000343764:I16542F;ENSP00000434586:I10045F;ENSP00000340554:I10237F;ENSP00000352154:I10170F	ENSP00000340554:I10237F	I	-	1	0	0	TTN	179170726	179170726	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_133378			51	51		250	248	1		1	0		0	0	41	0		1	0	0	0	0	1	0	51	250
TTN	7273	broad.mit.edu	37	2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000591111.1	-	243	52545	c.52321G>A	c.(52321-52323)Gaa>Aaa	p.E17441K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19082K|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17441	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)			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)			TCCTTCATTTCAATGACATCT	0.373																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(52321-52323)Gaa>Aaa		titin							160.0	155.0	157.0					2																	179462653		1899	4125	6024	SO:0001583	missense	7273	0	0					g.chr2:179462653C>T	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.52321G>A	chr2.hg19:g.179462653C>T	ENSP00000465570:p.Glu17441Lys	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN_ENST00000589042.1_Missense_Mutation_p.E19082K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.E17441K			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	243	52545	-			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	1	1	hg19	c.52321G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307995	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	5.87	5.87	0.94306	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44371	0.1290	N	0.11313	0.125	0.58432	D	0.999994	D;D;D;D	0.58620	0.966;0.966;0.966;0.983	P;P;P;P	0.51016	0.505;0.505;0.505;0.656	T	0.51841	-0.8654	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	10017;10142;10209;17441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16514;10017;10209;10142;10015	ENSP00000343764:E16514K;ENSP00000434586:E10017K;ENSP00000340554:E10209K;ENSP00000352154:E10142K	ENSP00000340554:E10209K	E	-	1	0	0	TTN	179170898	179170898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.941000	0.99782	0.655000	0.94253	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_133378			83	82		405	396	1		1	0		0	0	92	0		1	0	0	1	0	0	0	83	405
TTN	7273	broad.mit.edu	37	2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T	rs572453785		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000591111.1	-	241	51994	c.51770G>A	c.(51769-51771)cGt>cAt	p.R17257H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18898H|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17257	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)			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)			CATGGAGTTACGAGTCACGCT	0.418													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.992144	0.990000	1.000000																										0				1448						c.(51769-51771)cGt>cAt		titin							58.0	56.0	57.0					2																	179463744		1883	4105	5988	SO:0001583	missense	7273	3	120690	36				g.chr2:179463744C>T	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.51770G>A	chr2.hg19:g.179463744C>T	ENSP00000465570:p.Arg17257His	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN_ENST00000589042.1_Missense_Mutation_p.R18898H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.R17257H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	241	51994	-			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	1	1	hg19	c.51770G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908815	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.98	5.98	0.97165	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	0.41650	0.1168	L	0.27053	0.805	0.27011	N	0.964683	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.32693	-0.9897	9	0.87932	D	0	.	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	9833;9958;10025;17257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16330;9833;10025;9958;9831	ENSP00000343764:R16330H;ENSP00000434586:R9833H;ENSP00000340554:R10025H;ENSP00000352154:R9958H	ENSP00000340554:R10025H	R	-	2	0	0	TTN	179171989	179171989	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	2.843000	0.97960	0.650000	0.86243	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-11.139490	1	0.170000	NM_133378			28	27		253	251	0		1			0	0	32	0		1	0	0	0	0	0	0	28	253
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000591111.1	-	238	51110	c.50886G>A	c.(50884-50886)ccG>ccA	p.P16962P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.P18603P|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 23. {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)			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)			CATCATTCTTCGGGGGTTTCC	0.458																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(50884-50886)ccG>ccA		titin							68.0	67.0	67.0					2																	179465822		1888	4119	6007	SO:0001819	synonymous_variant	7273	3	120816	40				g.chr2:179465822C>T	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.50886G>A	chr2.hg19:g.179465822C>T		1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN_ENST00000589042.1_Silent_p.P18603P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.P16962P			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	238	51110	-			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	1	1	hg19	c.50886G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_133378			81	81		385	379	1		1	0		0	0	77	0		1	0	0	0	0	1	0	81	385
TTN	7273	broad.mit.edu	37	2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000591111.1	-	235	50595	c.50371G>A	c.(50371-50373)Gat>Aat	p.D16791N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D18432N|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16791	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			aCCTGTGCATCTTCGGGTATG	0.308																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				1448						c.(50371-50373)Gat>Aat		titin							73.0	67.0	68.0					2																	179466617		1803	4075	5878	SO:0001583	missense	7273	0	0					g.chr2:179466617C>T	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.50371G>A	chr2.hg19:g.179466617C>T	ENSP00000465570:p.Asp16791Asn	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN_ENST00000589042.1_Missense_Mutation_p.D18432N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.D16791N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	235	50595	-			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	1	1	hg19	c.50371G>A		1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557858	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	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	0.69242	0.3089	M	0.63843	1.955	0.44247	D	0.997092	B;B;B;B	0.21606	0.026;0.026;0.026;0.058	B;B;B;B	0.24394	0.053;0.053;0.053;0.043	T	0.65290	-0.6204	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9367;9492;9559;16791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15864;9367;9559;9492;9367	ENSP00000343764:D15864N;ENSP00000434586:D9367N;ENSP00000340554:D9559N;ENSP00000352154:D9492N	ENSP00000340554:D9559N	D	-	1	0	0	TTN	179174862	179174862	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.015000	0.57152	2.885000	0.99019	0.655000	0.94253	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_133378			44	41		265	259	1		1	0		0	0	43	0		1	0	0	0	0	1	0	44	265
TTN	7273	broad.mit.edu	37	2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T	rs531242797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000591111.1	-	230	49338	c.49114G>A	c.(49114-49116)Gca>Aca	p.A16372T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A18013T|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16372	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)			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)			ATCTGAAGTGCATCAGTGGGT	0.478																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				1448						c.(49114-49116)Gca>Aca		titin							135.0	125.0	128.0					2																	179469867		1874	4102	5976	SO:0001583	missense	7273	11	120796	41				g.chr2:179469867C>T	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.49114G>A	chr2.hg19:g.179469867C>T	ENSP00000465570:p.Ala16372Thr	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN_ENST00000589042.1_Missense_Mutation_p.A18013T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A16372T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	230	49338	-			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	1	1	hg19	c.49114G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226034	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	4.86	0.63082	5.74	4.86	0.63082	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	0.29945	0.0749	N	0.13003	0.285	0.35599	D	0.807743	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28459	-1.0043	9	0.87932	D	0	.	15.2041	0.73165	0.0:0.9315:0.0:0.0685	.	8948;9073;9140;16372	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15445;8948;9140;9073;8948	ENSP00000343764:A15445T;ENSP00000434586:A8948T;ENSP00000340554:A9140T;ENSP00000352154:A9073T	ENSP00000340554:A9140T	A	-	1	0	0	TTN	179178112	179178112	0.998000	0.40836	0.956000	0.39512	0.934000	0.57294	2.314000	0.43743	1.400000	0.46741	0.563000	0.77884	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-19.999540	1	0.170000	NM_133378			53	51		337	329	1		1	0		0	0	84	0		1	0	0	0	0	1	0	53	337
TTN	7273	broad.mit.edu	37	2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000591111.1	-	223	47068	c.46844G>T	c.(46843-46845)aGc>aTc	p.S15615I	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN_ENST00000589042.1_Missense_Mutation_p.S17256I			Q8WZ42	TITIN_HUMAN	titin	15615	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)			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)			CACTTCTAGGCTTGTTCTCAG	0.323																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(46843-46845)aGc>aTc		titin							113.0	107.0	109.0					2																	179474270		1856	4099	5955	SO:0001583	missense	7273	0	0					g.chr2:179474270C>A	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.46844G>T	chr2.hg19:g.179474270C>A	ENSP00000465570:p.Ser15615Ile	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN_ENST00000589042.1_Missense_Mutation_p.S17256I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.S15615I			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	223	47068	-			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	1	1	hg19	c.46844G>T		1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908248	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	4.93	0.64822	5.85	4.93	0.64822	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	0.52468	0.1736	L	0.61036	1.89	0.41827	D	0.99005	P;P;P;P	0.38677	0.642;0.642;0.642;0.642	P;P;P;P	0.48425	0.577;0.577;0.577;0.577	T	0.56147	-0.8027	9	0.87932	D	0	.	13.7731	0.63038	0.0:0.8119:0.1204:0.0677	.	8191;8316;8383;15615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14688;8191;8383;8316;8191	ENSP00000343764:S14688I;ENSP00000434586:S8191I;ENSP00000340554:S8383I;ENSP00000352154:S8316I	ENSP00000340554:S8383I	S	-	2	0	0	TTN	179182515	179182515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.753000	0.94483	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000	NM_133378			79	75		399	395	1		1	0		0	0	133	0		1	7.464998e-02	0	1	0	2	0	79	399
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T	rs369150143		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000591111.1	-	222	46983	c.46759G>A	c.(46759-46761)Gcg>Acg	p.A15587T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN_ENST00000589042.1_Missense_Mutation_p.A17228T			Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 13. {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)			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)			CTAATACCCGCGGCGTTCTCT	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(46759-46761)Gcg>Acg		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3743		0,1,1871	228.0	219.0	222.0		24487,43978,24862,25063	5.8	1.0	2		222	0,8206		0,0,4103	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,5974	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8163/26927,14660/33424,8288/27052,8355/27119	179474468	1,11949	1872	4103	5975	SO:0001583	missense	7273	24	120820	49				g.chr2:179474468C>T	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.46759G>A	chr2.hg19:g.179474468C>T	ENSP00000465570:p.Ala15587Thr	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN_ENST00000589042.1_Missense_Mutation_p.A17228T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A15587T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	222	46983	-			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	1	1	hg19	c.46759G>A		1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545804	0.65198	2.67E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.85	5.85	0.93711	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76285	0.3966	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	0.91635	0.999;0.999;0.999;0.999	T	0.78091	-0.2339	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8163;8288;8355;15587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14660;8163;8355;8288;8163	ENSP00000343764:A14660T;ENSP00000434586:A8163T;ENSP00000340554:A8355T;ENSP00000352154:A8288T	ENSP00000340554:A8355T	A	-	1	0	0	TTN	179182713	179182713	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0		2	2	2	0		0	0	232		232	229	1	2.060000	-20.000000	1	0.170000	NM_133378			312	308		951	932	1		1	1		0	0	232	0		1	2.572331e-01	0	2	0	2	0	312	951
TTN	7273	broad.mit.edu	37	2	179474553	179474553	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000591111.1	-	222	46898	c.46674A>G	c.(46672-46674)gaA>gaG	p.E15558E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN_ENST00000589042.1_Silent_p.E17199E			Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 13. {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)			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)			GTACCAGGTGTTCATTGCATC	0.468																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				1448						c.(46672-46674)gaA>gaG		titin							456.0	433.0	440.0					2																	179474553		1928	4144	6072	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179474553T>C	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.46674A>G	chr2.hg19:g.179474553T>C		1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN_ENST00000589042.1_Silent_p.E17199E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.E15558E			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	222	46898	-			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	1	1	hg19	c.46674A>G		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0		2	2	2	0		0	0	408		408	405	1	2.060000	-20.000000	1	0.170000	NM_133378			208	209		1997	1959	0		1	0		0	0	408	0		1	9.006669e-03	0	0	0	2	0	208	1997
TTN	7273	broad.mit.edu	37	2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000591111.1	-	213	44697	c.44473G>A	c.(44473-44475)Gca>Aca	p.A14825T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN_ENST00000589042.1_Missense_Mutation_p.A16466T|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14825	Fibronectin type-III 7. {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)			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)			AGAGTCACTGCGTCTTTAGTG	0.428																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(44473-44475)Gca>Aca		titin							171.0	166.0	167.0					2																	179478614		1964	4169	6133	SO:0001583	missense	7273	2	120888	38				g.chr2:179478614C>T	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.44473G>A	chr2.hg19:g.179478614C>T	ENSP00000465570:p.Ala14825Thr	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN_ENST00000589042.1_Missense_Mutation_p.A16466T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A14825T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	213	44697	-			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	1	1	hg19	c.44473G>A		1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660471	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.07	5.15	0.70609	6.07	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35799	0.0944	N	0.11106	0.095	0.45502	D	0.998463	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.37220	-0.9715	9	0.87932	D	0	.	12.6162	0.56578	0.3127:0.6873:0.0:0.0	.	7401;7526;7593;14825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13898;7401;7593;7526;7401	ENSP00000343764:A13898T;ENSP00000434586:A7401T;ENSP00000340554:A7593T;ENSP00000352154:A7526T	ENSP00000340554:A7593T	A	-	1	0	0	TTN	179186859	179186859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_133378			165	164		492	489	1		1	0		0	0	135	0		1	0	0	0	0	1	0	165	492
TTN	7273	broad.mit.edu	37	2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000591111.1	-	207	43547	c.43323T>G	c.(43321-43323)gaT>gaG	p.D14441E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN_ENST00000589042.1_Missense_Mutation_p.D16082E|TTN-AS1_ENST00000604956.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14441	Fibronectin type-III 4. {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)			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)			GACTTCCTCCATCATCATCAG	0.423																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(43321-43323)gaT>gaG		titin							164.0	154.0	157.0					2																	179481272		1927	4127	6054	SO:0001583	missense	7273	0	0					g.chr2:179481272A>C	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.43323T>G	chr2.hg19:g.179481272A>C	ENSP00000465570:p.Asp14441Glu	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN_ENST00000589042.1_Missense_Mutation_p.D16082E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.D14441E			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	207	43547	-			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	1	1	hg19	c.43323T>G		1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601281	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	4.75	0.60458	5.91	4.75	0.60458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69178	0.3082	M	0.86343	2.81	0.42975	D	0.99444	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.75016	-0.3466	9	0.87932	D	0	.	11.6649	0.51368	0.9305:0.0:0.0695:0.0	.	7017;7142;7209;14441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13514;7017;7209;7142;7017	ENSP00000343764:D13514E;ENSP00000434586:D7017E;ENSP00000340554:D7209E;ENSP00000352154:D7142E	ENSP00000340554:D7209E	D	-	3	2	2	TTN	179189517	179189517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.093000	0.50217	1.061000	0.40601	-0.256000	0.11100	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_133378			149	144		456	444	1		1	1		0	0	99	0		1	6.137280e-02	0	2	0	0	0	149	456
TTN	7273	broad.mit.edu	37	2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000591111.1	-	206	43201	c.42977C>T	c.(42976-42978)gCa>gTa	p.A14326V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN_ENST00000589042.1_Missense_Mutation_p.A15967V|TTN-AS1_ENST00000604956.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14326					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)			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)			ATCTTTAAATGCACTTAAATC	0.408																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(42976-42978)gCa>gTa		titin							129.0	125.0	126.0					2																	179481716		1861	4092	5953	SO:0001583	missense	7273	0	0					g.chr2:179481716G>A	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.42977C>T	chr2.hg19:g.179481716G>A	ENSP00000465570:p.Ala14326Val	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN_ENST00000589042.1_Missense_Mutation_p.A15967V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A14326V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	206	43201	-			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	1	1	hg19	c.42977C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842310	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.21;0.2;0.21	5.91	3.94	0.45596	5.91	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64405	0.2595	M	0.62723	1.935	0.37973	D	0.933336	B;B;B;P	0.35493	0.22;0.22;0.22;0.505	B;B;B;B	0.42319	0.119;0.119;0.207;0.383	T	0.72200	-0.4362	9	0.87932	D	0	.	12.2373	0.54522	0.0:0.0999:0.6366:0.2635	.	6902;7027;7094;14326	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13399;6902;7094;7027;6902	ENSP00000343764:A13399V;ENSP00000434586:A6902V;ENSP00000340554:A7094V;ENSP00000352154:A7027V	ENSP00000340554:A7094V	A	-	2	0	0	TTN	179189961	179189961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	1.483000	0.48342	0.655000	0.94253	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_133378			103	103		550	538	1		1	0		0	0	145	0		1	2.533690e-02	0	1	0	1	0	103	550
TTN	7273	broad.mit.edu	37	2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000591111.1	-	198	41254	c.41030C>T	c.(41029-41031)tCt>tTt	p.S13677F	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN_ENST00000589042.1_Missense_Mutation_p.S15318F|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13677	Ig-like 93.				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)			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)			GAATGTGACAGATTTCTTCTC	0.358																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(41029-41031)tCt>tTt		titin							92.0	86.0	88.0					2																	179485295		1881	4106	5987	SO:0001583	missense	7273	0	0					g.chr2:179485295G>A	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.41030C>T	chr2.hg19:g.179485295G>A	ENSP00000465570:p.Ser13677Phe	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN_ENST00000589042.1_Missense_Mutation_p.S15318F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.S13677F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	198	41254	-			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	1	1	hg19	c.41030C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240404	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.9	5.9	0.94986	5.9	5.9	0.94986	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	0.55386	0.1917	M	0.65677	2.01	0.44221	D	0.997059	B;B;B;B	0.31274	0.171;0.317;0.317;0.171	B;B;B;B	0.36418	0.09;0.13;0.224;0.207	T	0.56709	-0.7934	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6253;6378;6445;13677	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12750;6253;6445;6378;6253	ENSP00000343764:S12750F;ENSP00000434586:S6253F;ENSP00000340554:S6445F;ENSP00000352154:S6378F	ENSP00000340554:S6445F	S	-	2	0	0	TTN	179193540	179193540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.793000	0.96121	0.563000	0.77884	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_133378			88	87		223	221	1		1			0	0	49	0		1	0	0	0	0	0	0	88	223
TTN	7273	broad.mit.edu	37	2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000591111.1	-	186	38788	c.38564G>T	c.(38563-38565)cGg>cTg	p.R12855L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN_ENST00000589042.1_Missense_Mutation_p.R14496L			Q8WZ42	TITIN_HUMAN	titin	12855					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)			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)			GAATTTGAGCCGGATTCCTAT	0.343																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(38563-38565)cGg>cTg		titin							52.0	46.0	48.0					2																	179497134		1828	4072	5900	SO:0001583	missense	7273	0	0					g.chr2:179497134C>A	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.38564G>T	chr2.hg19:g.179497134C>A	ENSP00000465570:p.Arg12855Leu	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN_ENST00000589042.1_Missense_Mutation_p.R14496L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L	p.R12855L			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	186	38788	-			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	1	1	hg19	c.38564G>T		1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866084	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.1	6.1	0.99115	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86690	0.5993	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	0.81914	0.995;0.995;0.995;0.995	D	0.86400	0.1741	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5431;5556;5623;12855	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11928;5431;5623;5556;5431	ENSP00000343764:R11928L;ENSP00000434586:R5431L;ENSP00000340554:R5623L;ENSP00000352154:R5556L	ENSP00000340554:R5623L	R	-	2	0	0	TTN	179205379	179205379	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	7.768000	0.85345	2.902000	0.99343	0.650000	0.86243	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-17.430550	1	0.170000	NM_133378			20	19		55	53	1		1	0		0	0	14	0		9.999977e-01	1.859786e-01	0	0	0	3	0	20	55
TTN	7273	broad.mit.edu	37	2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000591111.1	-	176	36642	c.36418C>T	c.(36418-36420)Cgt>Tgt	p.R12140C	TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN_ENST00000589042.1_Missense_Mutation_p.R13781C			Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 81.				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)			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)			TTTACAAAACGCACAGGAAGT	0.358																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(36418-36420)Cgt>Tgt		titin							29.0	26.0	27.0					2																	179500957		1869	4102	5971	SO:0001583	missense	7273	1	120394	20				g.chr2:179500957G>A	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.36418C>T	chr2.hg19:g.179500957G>A	ENSP00000465570:p.Arg12140Cys	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN_ENST00000589042.1_Missense_Mutation_p.R13781C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C	p.R12140C			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	176	36642	-			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	1	1	hg19	c.36418C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901701	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.62	5.62	0.85841	5.62	5.62	0.85841	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.57536	1.79	0.50171	D	0.999854	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.55477	-0.8135	9	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	4716;4841;4908;12140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11213;4716;4908;4841;4716	ENSP00000343764:R11213C;ENSP00000434586:R4716C;ENSP00000340554:R4908C;ENSP00000352154:R4841C	ENSP00000340554:R4908C	R	-	1	0	0	TTN	179209202	179209202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.924000	0.70054	2.652000	0.90054	0.585000	0.79938	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_133378			20	20		63	61	1		1	0		0	0	15	0		9.999978e-01	6.320109e-02	0	0	0	2	0	20	63
TTN	7273	broad.mit.edu	37	2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T	rs571348685	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000591111.1	-	169	35803	c.35579G>A	c.(35578-35580)cGc>cAc	p.R11860H	TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN_ENST00000589042.1_Missense_Mutation_p.R13501H			Q8WZ42	TITIN_HUMAN	titin	11860	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)			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)			AAGTAATTTGCGAACTTTCTT	0.323													C|||	5	0.000998403	0.0	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.0051					ENST00000591111.1	1.000000	0.670000	1	9.900000e-01	0.990000	0.974818	0.990000	1.000000																										0				1448						c.(35578-35580)cGc>cAc		titin							54.0	49.0	51.0					2																	179507020		1803	4065	5868	SO:0001583	missense	7273	28	120098	39				g.chr2:179507020C>T	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.35579G>A	chr2.hg19:g.179507020C>T	ENSP00000465570:p.Arg11860His	1					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN_ENST00000589042.1_Missense_Mutation_p.R13501H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H	p.R11860H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	169	35803	-			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	0	1	hg19	c.35579G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502075	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67345	-0.26;0.17;0.16;0.15	5.55	4.67	0.58626	5.55	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59307	0.2184	L	0.46157	1.445	0.36310	D	0.857617	B;B;B;B;B	0.31640	0.014;0.014;0.014;0.014;0.333	B;B;B;B;B	0.25506	0.005;0.005;0.005;0.005;0.061	T	0.67715	-0.5599	9	0.87932	D	0	.	14.1448	0.65344	0.0:0.928:0.0:0.072	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933H;ENSP00000434586:R4436H;ENSP00000340554:R4628H;ENSP00000352154:R4561H	ENSP00000340554:R4628H	R	-	2	0	0	TTN	179215265	179215265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.528000	0.53524	1.344000	0.45657	0.591000	0.81541	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-11.914440	1	0.170000	NM_133378			6	6		45	45	1		1			0	0	11	0		9.681381e-01	0	0	0	0	0	0	6	45
GEN1	348654	broad.mit.edu	37	2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GEN1_ENST00000317402.7_Missense_Mutation_p.V343M|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	343					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATAAATTGGTGAAGGTTAT	0.274								Homologous recombination																														ENST00000381254.2	1.000000	0.910000	1	9.900000e-01	0.990000	0.994505	0.990000	1.000000																										0				16						c.(1027-1029)Gtg>Atg	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							34.0	36.0	35.0					2																	17954522		2198	4290	6488	SO:0001583	missense	348654	0	0					g.chr2:17954522G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1027G>A	chr2.hg19:g.17954522G>A	ENSP00000370653:p.Val343Met	1					GEN1_ENST00000317402.7_Missense_Mutation_p.V343M|SMC6_ENST00000402989.1_Intron	p.V343M	NM_001130009.1	NP_001123481.1	1	2	3	2.183349	Q17RS7	GEN_HUMAN		10	1241	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	1	1	hg19	c.1027G>A	CCDS1691.1	1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476207	0.26511	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42900	0.96;0.96;0.96	5.66	1.63	0.23807	5.66	1.63	0.23807	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	1.197160	0.06327	N	0.705530	T	0.38348	0.1037	L	0.57536	1.79	0.09310	N	1	P	0.47106	0.89	B	0.42522	0.39	T	0.26121	-1.0112	10	0.44086	T	0.13	-0.1524	2.6399	0.04968	0.238:0.1369:0.5007:0.1244	.	343	Q17RS7	GEN_HUMAN	M	343;343;114	ENSP00000318977:V343M;ENSP00000370653:V343M;ENSP00000431542:V114M	ENSP00000318977:V343M	V	+	1	0	0	GEN1	17818003	17818003	0.134000	0.22483	0.131000	0.22000	0.868000	0.49771	0.403000	0.20982	0.264000	0.21851	0.650000	0.86243	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.519740	1	0.170000	NM_182625			12	12		83	83	1		1	1		0	0	22	0		9.993272e-01	3.432435e-01	0	3	0	6	0	12	83
TTN	7273	broad.mit.edu	37	2	179516866	179516866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000591111.1	-	159	34955	c.34731G>A	c.(34729-34731)gtG>gtA	p.V11577V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.V13084V			Q8WZ42	TITIN_HUMAN	titin	11577	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)			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)			TAGCTTCAGGCACCTTCTTTT	0.348																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(34729-34731)gtG>gtA		titin							107.0	103.0	104.0					2																	179516866		1810	4075	5885	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179516866C>T	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.34731G>A	chr2.hg19:g.179516866C>T		1					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V13084V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.V11577V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	159	34955	-			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	1	1	hg19	c.34731G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_133378			128	127		461	449	1		1			0	0	97	0		1	0	0	0	0	0	0	128	461
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	rs372118864		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W			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.R9774W(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)			TCATACTCCCGCTCCTCGTAT	0.358																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R9774W(1)	lung(1)	1448						c.(32101-32103)Cgg>Tgg		titin		G	,,,TRP/ARG	0,3780		0,0,1890	299.0	282.0	287.0		,,,29320	4.6	0.0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG		0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	SO:0001583	missense	7273	4	120826	42				g.chr2:179547466G>A	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.32101C>T	chr2.hg19:g.179547466G>A	ENSP00000465570:p.Arg10701Trp	1					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.R10701W			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	133	32325	-			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	1	1	hg19	c.32101C>T		1	.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	2	TTN	179255711	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_133378			209	204		716	701	1		1			0	0	153	0		1	0	0	0	0	0	0	209	716
TTN	7273	broad.mit.edu	37	2	179550287	179550287	+	Silent	SNP	G	G	A	rs72650029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179550287G>A	ENST00000591111.1	-	126	31623	c.31399C>T	c.(31399-31401)Ctg>Ttg	p.L10467L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L9540L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.L10784L			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)			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)			ATAATGTGCAGCTTTTCTTCC	0.348																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(31399-31401)Ctg>Ttg		titin							115.0	110.0	111.0					2																	179550287		1902	4115	6017	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179550287G>A	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.31399C>T	chr2.hg19:g.179550287G>A		1					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L9540L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.L10784L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.L10467L			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	126	31623	-			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	1	0	hg19	c.31399C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-2.645466	1	0.170000	NM_133378			28	28		105	103	1		1			0	0	30	0		1	0	0	0	0	0	0	28	105
TTN	7273	broad.mit.edu	37	2	179567333	179567333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179567333G>A	ENST00000591111.1	-	105	29554	c.29330C>T	c.(29329-29331)tCt>tTt	p.S9777F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10094F			Q8WZ42	TITIN_HUMAN	titin	13855	Ig-like 79.				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)			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)			AAAGGTGGCAGACTGATGCTC	0.408																																						ENST00000591111.1	1.000000	0.200000	5.200000e-01	2.800000e-01	0.370000	0.430401	0.370000	0.350000																										0				1448						c.(29329-29331)tCt>tTt		titin							160.0	157.0	158.0					2																	179567333		2018	4182	6200	SO:0001583	missense	7273	0	0					g.chr2:179567333G>A	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.29330C>T	chr2.hg19:g.179567333G>A	ENSP00000465570:p.Ser9777Phe	1					TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10094F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.S9777F			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	105	29554	-			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	1	1	hg19	c.29330C>T		0	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451783	0.63290	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.72	5.72	0.89469	5.72	5.72	0.89469	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	0.88081	0.6341	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89989	0.4106	9	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	9777	Q8WZ42	TITIN_HUMAN	F	8850	ENSP00000343764:S8850F	ENSP00000343764:S8850F	S	-	2	0	0	TTN	179275578	179275578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.704000	0.92352	0.655000	0.94253	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.584689	1	0.170000	NM_133378			14	14		487	470	0		1			0	0	81	0		9.996942e-01	0	0	0	0	0	0	14	487
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000591111.1	-	104	29424	c.29200C>T	c.(29200-29202)Cga>Tga	p.R9734*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R10051*			Q8WZ42	TITIN_HUMAN	titin	13812	Ig-like 78.				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)			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)			TCTTCTGCTCGAACATCTGCA	0.423																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(29200-29202)Cga>Tga		titin							233.0	217.0	222.0					2																	179568946		1907	4130	6037	SO:0001587	stop_gained	7273	0	0					g.chr2:179568946G>A	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.29200C>T	chr2.hg19:g.179568946G>A	ENSP00000465570:p.Arg9734*	1					TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R10051*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.R9734*			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	104	29424	-			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	0	1	hg19	c.29200C>T		1	.	.	.	.	.	.	.	.	.	.	G	60	43.287529	0.99986	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	5.12	0.69794	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0665	0.64834	0.0:0.0:0.7462:0.2538	.	.	.	.	X	8807	.	ENSP00000343764:R8807X	R	-	1	2	2	TTN	179277191	179277191	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	5.542000	0.67218	2.885000	0.99019	0.655000	0.94253	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-9.280140	1	0.170000	NM_133378			193	189		512	503	1		1			0	0	137	0		1	0	0	0	0	0	0	193	512
TTN	7273	broad.mit.edu	37	2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000591111.1	-	103	29094	c.28870C>A	c.(28870-28872)Ctg>Atg	p.L9624M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9941M			Q8WZ42	TITIN_HUMAN	titin	13700					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)			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)			CTGGGTTCCAGTTTTTCAGTT	0.343																																						ENST00000591111.1	1.000000	0.470000	1	7.000000e-01	0.990000	0.890012	0.990000	1.000000																										0				1448						c.(28870-28872)Ctg>Atg		titin							78.0	68.0	71.0					2																	179569378		1831	4086	5917	SO:0001583	missense	7273	0	0					g.chr2:179569378G>T	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.28870C>A	chr2.hg19:g.179569378G>T	ENSP00000465570:p.Leu9624Met	1					TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9941M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.L9624M			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	103	29094	-			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	0	1	hg19	c.28870C>A		1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497968	0.26861	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.93	3.92	0.45320	5.93	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82282	0.5003	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83671	0.0166	9	0.87932	D	0	.	9.1462	0.36935	0.2633:0.0:0.7367:0.0	.	9624	Q8WZ42	TITIN_HUMAN	M	8697	ENSP00000343764:L8697M	ENSP00000343764:L8697M	L	-	1	2	2	TTN	179277623	179277623	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.691000	0.54720	1.529000	0.49120	0.655000	0.94253	CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-12.752480	1	0.170000	NM_133378			8	8		99	94	0		1	0		0	0	14	0		9.881633e-01	0	0	0	0	1	0	8	99
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000591111.1	-	96	27496	c.27272C>A	c.(27271-27273)gCt>gAt	p.A9091D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9408D			Q8WZ42	TITIN_HUMAN	titin	13223	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.A8164V(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)			TCCCACCACAGCATCCACAGG	0.517																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.A8164V(1)	large_intestine(1)	1448						c.(27271-27273)gCt>gAt		titin							92.0	89.0	90.0					2																	179575601		2001	4165	6166	SO:0001583	missense	7273	0	0					g.chr2:179575601G>T	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.27272C>A	chr2.hg19:g.179575601G>T	ENSP00000465570:p.Ala9091Asp	1					TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9408D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.A9091D			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	96	27496	-			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	1	1	hg19	c.27272C>A		1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	4.24	0.50183	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.86268	2.805	0.80722	D	1	P	0.51933	0.949	P	0.52386	0.697	T	0.78006	-0.2373	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	D	8164	ENSP00000343764:A8164D	ENSP00000343764:A8164D	A	-	2	0	0	TTN	179283846	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_133378			60	60		384	375	1		1	0		0	0	77	0		1	0	0	0	0	1	0	60	384
TTN	7273	broad.mit.edu	37	2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000591111.1	-	92	26554	c.26330G>A	c.(26329-26331)aGc>aAc	p.S8777N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094N			Q8WZ42	TITIN_HUMAN	titin	12927	Ig-like 70.				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)			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)			AGCTTCATTGCTAACTATGCA	0.393																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(26329-26331)aGc>aAc		titin							93.0	90.0	91.0					2																	179577471		1906	4119	6025	SO:0001583	missense	7273	0	0					g.chr2:179577471C>T	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.26330G>A	chr2.hg19:g.179577471C>T	ENSP00000465570:p.Ser8777Asn	1					TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.S8777N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	92	26554	-			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	1	1	hg19	c.26330G>A		1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.217070	0.22373	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.48	2.44	0.29823	5.48	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73087	0.3542	M	0.81802	2.56	0.09310	N	0.999999	B	0.25048	0.117	B	0.33196	0.159	T	0.69331	-0.5173	9	0.87932	D	0	.	17.1553	0.86790	0.0:0.5105:0.4895:0.0	.	8777	Q8WZ42	TITIN_HUMAN	N	7850	ENSP00000343764:S7850N	ENSP00000343764:S7850N	S	-	2	0	0	TTN	179285716	179285716	0.000000	0.05858	0.387000	0.26183	0.986000	0.74619	0.215000	0.17562	0.746000	0.32786	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_133378			53	53		280	275	1		1			0	0	48	0		1	0	0	0	0	0	0	53	280
TTN	7273	broad.mit.edu	37	2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000591111.1	-	79	22720	c.22496C>T	c.(22495-22497)gCc>gTc	p.A7499V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7816V			Q8WZ42	TITIN_HUMAN	titin	13055	Ig-like 57.				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)			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)			CTCCACTATGGCCCGTAACTC	0.428																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(22495-22497)gCc>gTc		titin							93.0	89.0	90.0					2																	179584922		1861	4104	5965	SO:0001583	missense	7273	0	0					g.chr2:179584922G>A	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.22496C>T	chr2.hg19:g.179584922G>A	ENSP00000465570:p.Ala7499Val	1					TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7816V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.A7499V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	79	22720	-			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	1	1	hg19	c.22496C>T		1	.	.	.	.	.	.	.	.	.	.	G	7.240	0.601000	0.13939	.	.	ENSG00000155657	ENST00000342992	T	0.39056	1.1	5.76	5.76	0.90799	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52821	0.1758	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.54346	0.749	T	0.53450	-0.8437	9	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	7499	Q8WZ42	TITIN_HUMAN	V	6572	ENSP00000343764:A6572V	ENSP00000343764:A6572V	A	-	2	0	0	TTN	179293167	179293167	0.198000	0.23374	0.585000	0.28666	0.075000	0.17131	2.688000	0.46984	2.721000	0.93114	0.650000	0.86243	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_133378			79	76		226	219	1		1			0	0	68	0		1	0	0	0	0	0	0	79	226
GEN1	348654	broad.mit.edu	37	2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269								Homologous recombination																														ENST00000381254.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1216-1218)Cga>Tga	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							77.0	84.0	82.0					2																	17959282		2199	4269	6468	SO:0001587	stop_gained	348654	1	121334	32				g.chr2:17959282C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1216C>T	chr2.hg19:g.17959282C>T	ENSP00000370653:p.Arg406*	1					GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	p.R406*	NM_001130009.1	NP_001123481.1	1	2	3	2.183349	Q17RS7	GEN_HUMAN		12	1430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	0	1	hg19	c.1216C>T	CCDS1691.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.665361	0.97747	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.21	3.34	0.38264	5.21	3.34	0.38264	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2737	12.8916	0.58073	0.4272:0.5728:0.0:0.0	.	.	.	.	X	406;406;177;43	.	ENSP00000318977:R406X	R	+	1	2	2	GEN1	17822763	17822763	0.979000	0.34478	0.687000	0.30102	0.853000	0.48598	2.467000	0.45093	0.637000	0.30526	-0.181000	0.13052	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.542534	1	0.170000	NM_182625			69	69		263	260	1		1	0		0	0	77	0		1	3.679959e-01	0	1	0	5	0	69	263
TTN	7273	broad.mit.edu	37	2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000591111.1	-	70	20277	c.20053A>G	c.(20053-20055)Atc>Gtc	p.I6685V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7002V|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AAGGAAGAGATTTTGTTGTAG	0.443																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(20053-20055)Atc>Gtc		titin							94.0	90.0	91.0					2																	179589098		1896	4122	6018	SO:0001583	missense	7273	0	0					g.chr2:179589098T>C	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.20053A>G	chr2.hg19:g.179589098T>C	ENSP00000465570:p.Ile6685Val	1					RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7002V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.I6685V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	70	20277	-			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	1	1	hg19	c.20053A>G		1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625350	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	2.75	0.32379	6.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38719	0.1051	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14643	-1.0465	9	0.87932	D	0	.	7.861	0.29509	0.0:0.6856:0.0:0.3144	.	6685	Q8WZ42	TITIN_HUMAN	V	5758	ENSP00000343764:I5758V	ENSP00000343764:I5758V	I	-	1	0	0	TTN	179297343	179297343	0.965000	0.33210	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.192000	0.20272	-0.274000	0.10170	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_133378			60	56		281	276	1		1	0		0	0	52	0		1	0	0	0	0	1	0	60	281
TTN	7273	broad.mit.edu	37	2	179593619	179593619	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000591111.1	-	63	18419	c.18195A>C	c.(18193-18195)caA>caC	p.Q6065H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Splice_Site_p.Q6382H|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12853					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)			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)			CTTACAAACCTTGTACTAAAA	0.378																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(18193-18195)caA>caC		titin							72.0	65.0	67.0					2																	179593619		1903	4134	6037	SO:0001630	splice_region_variant	7273	0	0					g.chr2:179593619T>G	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.18196+1A>C	chr2.hg19:g.179593619T>G		1					RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site_p.Q6382H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.Q6065H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	63	18419	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	1	0	hg19	c.18195A>C		1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811439	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.63	5.63	0.86233	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55752	0.1940	L	0.43757	1.38	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.58364	-0.7649	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6065	Q8WZ42	TITIN_HUMAN	H	5138	ENSP00000343764:Q5138H	ENSP00000343764:Q5138H	Q	-	3	2	2	TTN	179301864	179301864	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	CAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_133378	Missense_Mutation		60	59		148	145	1		1			0	0	41	0		1	0	0	0	0	0	0	60	148
TTN	7273	broad.mit.edu	37	2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000591111.1	-	52	15225	c.15001C>A	c.(15001-15003)Ctc>Atc	p.L5001I	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L5318I|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12380	Ig-like 30.				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)			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)			TAAAATTTGAGCTGGGCAACA	0.448																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(15001-15003)Ctc>Atc		titin							89.0	86.0	87.0					2																	179598068		1836	4096	5932	SO:0001583	missense	7273	0	0					g.chr2:179598068G>T	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.15001C>A	chr2.hg19:g.179598068G>T	ENSP00000465570:p.Leu5001Ile	1					TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L5318I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.L5001I			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	52	15225	-			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	1	1	hg19	c.15001C>A		1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872505	0.33069	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.86	5.86	0.93980	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85927	0.5811	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.88744	0.3245	9	0.87932	D	0	.	14.3531	0.66716	0.0704:0.0:0.9296:0.0	.	5001	Q8WZ42	TITIN_HUMAN	I	4074	ENSP00000343764:L4074I	ENSP00000343764:L4074I	L	-	1	0	0	TTN	179306313	179306313	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	2.844000	0.48246	2.765000	0.95021	0.655000	0.94253	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_133378			76	74		420	415	1		1			0	0	87	0		1	0	0	0	0	0	0	76	420
TTN	7273	broad.mit.edu	37	2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000591111.1	-	51	15016	c.14792G>A	c.(14791-14793)aGc>aAc	p.S4931N	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S5248N|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12315	Ig-like 29.				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)			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)			AGATGTTTGGCTTCCAGCTTC	0.363																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(14791-14793)aGc>aAc		titin							116.0	113.0	114.0					2																	179598373		1853	4090	5943	SO:0001583	missense	7273	0	0					g.chr2:179598373C>T	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.14792G>A	chr2.hg19:g.179598373C>T	ENSP00000465570:p.Ser4931Asn	1					TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S5248N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.S4931N			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	51	15016	-			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	1	1	hg19	c.14792G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057724	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.97	5.97	0.96955	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71333	0.3327	L	0.53561	1.675	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.73914	-0.3832	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	4931	Q8WZ42	TITIN_HUMAN	N	4004	ENSP00000343764:S4004N	ENSP00000343764:S4004N	S	-	2	0	0	TTN	179306618	179306618	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.024000	0.49674	2.836000	0.97738	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_133378			159	155		438	426	1		1			0	0	102	0		1	0	0	0	0	0	0	159	438
TTN	7273	broad.mit.edu	37	2	179598615	179598615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000591111.1	-	51	14774	c.14550T>C	c.(14548-14550)ccT>ccC	p.P4850P	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P3923P|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.P5167P|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12233					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)			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)			CAAAGGTTGGAGGTTCTAGTT	0.368																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(14548-14550)ccT>ccC		titin							50.0	48.0	48.0					2																	179598615		1869	4102	5971	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179598615A>G	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.14550T>C	chr2.hg19:g.179598615A>G		1					TTN_ENST00000342992.6_Silent_p.P3923P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P5167P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.P4850P			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	51	14774	-			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	1	1	hg19	c.14550T>C		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_133378			73	72		194	187	0		1			0	0	39	0		1	0	0	0	0	0	0	73	194
TTN	7273	broad.mit.edu	37	2	179604158	179604158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179604158A>G	ENST00000591111.1	-	46	13075	c.12851T>C	c.(12850-12852)aTc>aCc	p.I4284T	TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN_ENST00000589042.1_Missense_Mutation_p.I4601T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32497					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)			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)			ATCCTCTTTGATTAAGCCACC	0.438																																						ENST00000591111.1	1.000000	0.150000	4.700000e-01	2.200000e-01	0.310000	0.381215	0.310000	0.290000																										0				1448						c.(12850-12852)aTc>aCc		titin							133.0	124.0	127.0					2																	179604158		1952	4150	6102	SO:0001583	missense	7273	0	0					g.chr2:179604158A>G	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.12851T>C	chr2.hg19:g.179604158A>G	ENSP00000465570:p.Ile4284Thr	1					TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000589042.1_Missense_Mutation_p.I4601T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000359218.5_Missense_Mutation_p.I4363T	p.I4284T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	46	13075	-			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	0	1	hg19	c.12851T>C		0	.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694352	0.03303	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61274	0.16;0.13;0.12	5.65	-2.18	0.07037	5.65	-2.18	0.07037	.	.	.	.	.	T	0.24736	0.0600	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	0.15292	-1.0442	9	0.87932	D	0	.	2.8061	0.05428	0.2567:0.2422:0.392:0.1091	.	4238;4363;4430	D3DPF9;E7EQE6;E7ET18	.;.;.	T	4238;4430;4363;4238	ENSP00000434586:I4238T;ENSP00000340554:I4430T;ENSP00000352154:I4363T	ENSP00000340554:I4430T	I	-	2	0	0	TTN	179312403	179312403	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.167000	0.09940	-0.296000	0.08947	0.533000	0.62120	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-9.121766	1	0.170000	NM_133378			9	9		380	372	0		1			0	0	63	0		9.937819e-01	0	0	0	0	0	0	9	380
MYT1L	23040	broad.mit.edu	37	2	1796203	1796203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1796203C>T	ENST00000399161.2	-	24	4057	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1104					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)			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)		TTCTCCTCTTCGATGGTCTTC	0.552																																						ENST00000399161.2	1.000000	0.200000	7.600000e-01	3.300000e-01	0.510000	0.548538	0.510000	1.000000																										0				97						c.(3310-3312)Gaa>Aaa		myelin transcription factor 1-like							130.0	129.0	129.0					2																	1796203		2071	4221	6292	SO:0001583	missense	23040	0	0					g.chr2:1796203C>T	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.3310G>A	chr2.hg19:g.1796203C>T	ENSP00000382114:p.Glu1104Lys	1					MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K	p.E1104K	NM_015025.2	NP_055840.2	1	2	3	2.183349	Q9UL68	MYT1L_HUMAN		24	4057	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	0	1	hg19	c.3310G>A		0	.	.	.	.	.	.	.	.	.	.	C	35	5.553889	0.96501	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.56611	0.45;1.98;0.45	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.044994	0.85682	D	0.000000	T	0.68952	0.3057	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.972;0.997;0.998	B;P;P	0.57548	0.367;0.67;0.823	T	0.70828	-0.4766	10	0.54805	T	0.06	-36.3414	19.3812	0.94536	0.0:1.0:0.0:0.0	.	102;1104;1102	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	K	1104;1050;102;158;1102	ENSP00000382114:E1104K;ENSP00000382111:E158K;ENSP00000396103:E1102K	ENSP00000295067:E1050K	E	-	1	0	0	MYT1L	1775210	1775210	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.977000	0.70492	2.572000	0.86782	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.808946	1	0.170000	NM_015025			5	5		128	126	0		1			0	0	25	0		9.362573e-01	0	0	0	0	0	0	5	128
TTN	7273	broad.mit.edu	37	2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000591111.1	-	46	11077	c.10853C>A	c.(10852-10854)cCt>cAt	p.P3618H	TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN_ENST00000589042.1_Missense_Mutation_p.P3935H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13924					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)			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)			AGGAGGACAAGGACCTCCCAG	0.458																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(10852-10854)cCt>cAt		titin							162.0	157.0	159.0					2																	179606156		1919	4120	6039	SO:0001583	missense	7273	0	0					g.chr2:179606156G>T	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.10853C>A	chr2.hg19:g.179606156G>T	ENSP00000465570:p.Pro3618His	1					TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000589042.1_Missense_Mutation_p.P3935H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H	p.P3618H			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	46	11077	-			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	1	1	hg19	c.10853C>A		1	.	.	.	.	.	.	.	.	.	.	G	9.504	1.103928	0.20632	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.15;0.09;0.08	5.87	5.87	0.94306	5.87	5.87	0.94306	.	.	.	.	.	T	0.53562	0.1804	L	0.49126	1.545	0.27352	N	0.956201	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.49862	-0.8894	9	0.87932	D	0	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	3572;3697;3764	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3572;3764;3697;3572	ENSP00000434586:P3572H;ENSP00000340554:P3764H;ENSP00000352154:P3697H	ENSP00000340554:P3764H	P	-	2	0	0	TTN	179314401	179314401	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	174		174	174	1	2.060000	-3.221914	1	0.170000	NM_133378			126	126		720	705	1		1			0	0	174	0		1	0	0	0	0	0	0	126	720
TTN	7273	broad.mit.edu	37	2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000591111.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13534					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)			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)			GATAAACATTCGGTGGATTCT	0.418																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(9610-9612)cGa>cAa		titin							175.0	162.0	166.0					2																	179631200		2203	4300	6503	SO:0001583	missense	7273	0	0					g.chr2:179631200C>T	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.9611G>A	chr2.hg19:g.179631200C>T	ENSP00000465570:p.Arg3204Gln	1					TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000578746.1_RNA	p.R3204Q			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	41	9835	-			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	1	1	hg19	c.9611G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	0	TTN	179339445	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_133378			91	91		506	497	1		1			0	0	99	0		1	0	0	0	0	0	0	91	506
TTN	7273	broad.mit.edu	37	2	179636087	179636087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179636087C>T	ENST00000591111.1	-	34	8191	c.7967G>A	c.(7966-7968)gGc>gAc	p.G2656D	TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN_ENST00000589042.1_Missense_Mutation_p.G2656D|TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12981	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)			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)			TAGGTGTTTGCCATCCCTCAA	0.458																																						ENST00000591111.1	1.000000	0.140000	4.800000e-01	2.100000e-01	0.320000	0.383332	0.320000	0.290000																										0				1448						c.(7966-7968)gGc>gAc		titin							226.0	175.0	192.0					2																	179636087		2203	4300	6503	SO:0001583	missense	7273	0	0					g.chr2:179636087C>T	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.7967G>A	chr2.hg19:g.179636087C>T	ENSP00000465570:p.Gly2656Asp	1					TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000589042.1_Missense_Mutation_p.G2656D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000584485.1_RNA	p.G2656D			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	34	8191	-			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	0	1	hg19	c.7967G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043155	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	6.17	5.3	0.74995	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19525	0.0469	M	0.80183	2.485	0.41668	D	0.989228	B;B;B;B;P	0.37573	0.315;0.315;0.315;0.315;0.6	B;B;B;B;B	0.42319	0.214;0.214;0.214;0.214;0.383	T	0.01356	-1.1376	9	0.87932	D	0	.	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	2610;2610;2610;2656;2656	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2656;2610;2610;2610;2610;2656	ENSP00000343764:G2656D;ENSP00000434586:G2610D;ENSP00000340554:G2610D;ENSP00000352154:G2610D;ENSP00000354117:G2656D	ENSP00000340554:G2610D	G	-	2	0	0	TTN	179344332	179344332	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.087000	0.71362	1.631000	0.50456	0.655000	0.94253	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.064543	1	0.170000	NM_133378			8	8		339	334	0		1			0	0	40	0		9.889350e-01	0	0	0	0	0	0	8	339
TTN	7273	broad.mit.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			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)			GCTGTATTCTCCCTGGTCCTC	0.438																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(7000-7002)gGa>gTa		titin							152.0	139.0	143.0					2																	179638990		2203	4300	6503	SO:0001583	missense	7273	0	0					g.chr2:179638990C>A	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.7001G>T	chr2.hg19:g.179638990C>A	ENSP00000465570:p.Gly2334Val	1					TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000584485.1_RNA	p.G2334V			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	30	7225	-			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	1	1	hg19	c.7001G>T		1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	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	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	0	TTN	179347235	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-4.923758	1	0.170000	NM_133378			134	134		429	423	1		1			0	0	78	0		1	0	0	0	0	0	0	134	429
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000591111.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000589042.1_Missense_Mutation_p.A2015T|TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12808					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)			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)			AGCTCCACAGCGGTAATGGCT	0.453																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(6043-6045)Gct>Act		titin							129.0	135.0	133.0					2																	179640548		2203	4300	6503	SO:0001583	missense	7273	1	121410	35				g.chr2:179640548C>T	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.6043G>A	chr2.hg19:g.179640548C>T	ENSP00000465570:p.Ala2015Thr	1					TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000589042.1_Missense_Mutation_p.A2015T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000584485.1_RNA	p.A2015T			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	28	6267	-			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	1	1	hg19	c.6043G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907980	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.15;0.13;0.12;0.29	5.12	5.12	0.69794	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.71676	0.3368	L	0.32530	0.975	0.33807	D	0.627368	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	P;P;P;P;D	0.71414	0.603;0.603;0.603;0.603;0.973	T	0.79699	-0.1694	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1969;1969;1969;2015;2015	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2015;1969;1969;1969;1969;2015	ENSP00000343764:A2015T;ENSP00000434586:A1969T;ENSP00000340554:A1969T;ENSP00000352154:A1969T;ENSP00000354117:A2015T	ENSP00000340554:A1969T	A	-	1	0	0	TTN	179348793	179348793	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.837000	0.69381	2.387000	0.81309	0.609000	0.83330	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_133378			152	148		774	762	1		1	0		0	0	147	0		1	0	0	0	0	1	0	152	774
TTN	7273	broad.mit.edu	37	2	179647028	179647028	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000591111.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000460472.2_Silent_p.G1051G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000589042.1_Silent_p.G1097G|TTN_ENST00000360870.5_Silent_p.G1097G			Q8WZ42	TITIN_HUMAN	titin	33316	Ig-like 4.				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)			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)			ACACCACGCTCCCACCTTCCA	0.498																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(3289-3291)ggG>ggT		titin							76.0	74.0	75.0					2																	179647028		2203	4300	6503	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179647028C>A	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.3291G>T	chr2.hg19:g.179647028C>A		1					TTN_ENST00000360870.5_Silent_p.G1097G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000589042.1_Silent_p.G1097G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000359218.5_Silent_p.G1051G	p.G1097G			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	20	3515	-			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	1	1	hg19	c.3291G>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_133378			71	69		330	329	1		1			0	0	76	0		1	0	0	0	0	0	0	71	330
TTN	7273	broad.mit.edu	37	2	179647624	179647624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000591111.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000460472.2_Silent_p.R957R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000589042.1_Silent_p.R1003R|TTN_ENST00000360870.5_Silent_p.R1003R			Q8WZ42	TITIN_HUMAN	titin	32556	Ig-like 3.				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)			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)			CAAATGCTTCGCGAATCATAA	0.502																																						ENST00000591111.1	1.000000	0.560000	1	6.900000e-01	0.850000	0.849131	0.850000	1.000000																										0				1448						c.(3007-3009)cgC>cgA		titin							97.0	92.0	94.0					2																	179647624		2203	4300	6503	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179647624G>T	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.3009C>A	chr2.hg19:g.179647624G>T		1					TTN_ENST00000360870.5_Silent_p.R1003R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000589042.1_Silent_p.R1003R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000359218.5_Silent_p.R957R	p.R1003R			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	18	3233	-			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	1	1	hg19	c.3009C>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-7.129032	1	0.170000	NM_133378			26	25		370	367	0		1			0	0	70	0		9.999999e-01	0	0	0	0	0	0	26	370
TTN	7273	broad.mit.edu	37	2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000591111.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000589042.1_Missense_Mutation_p.R674G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G			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)			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)			TCTCTAGTTCTCAGTATTGTT	0.368																																						ENST00000591111.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(2020-2022)Aga>Gga		titin							189.0	181.0	183.0					2																	179654143		2203	4300	6503	SO:0001583	missense	7273	0	0					g.chr2:179654143T>C	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.2020A>G	chr2.hg19:g.179654143T>C	ENSP00000465570:p.Arg674Gly	1					TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000589042.1_Missense_Mutation_p.R674G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G	p.R674G			1	2	3	2.111737	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	13	2244	-			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	1	1	hg19	c.2020A>G		1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866839	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.9	5.9	0.94986	5.9	5.9	0.94986	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45438	0.1342	L	0.58810	1.83	0.23657	N	0.997182	B;B;B;B;B	0.21606	0.001;0.001;0.001;0.001;0.058	B;B;B;B;B	0.18561	0.007;0.007;0.007;0.007;0.022	T	0.44251	-0.9340	9	0.87932	D	0	.	10.0642	0.42292	0.0:0.0751:0.0:0.9249	.	628;628;628;674;674	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	674;628;628;628;628;674;178	ENSP00000343764:R674G;ENSP00000434586:R628G;ENSP00000340554:R628G;ENSP00000352154:R628G;ENSP00000354117:R674G;ENSP00000405517:R178G	ENSP00000340554:R628G	R	-	1	2	2	TTN	179362388	179362388	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.266000	0.75297	0.528000	0.53228	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_133378			79	78		440	433	1		1			0	0	73	0		1	0	0	0	0	0	0	79	440
CCDC141	285025	broad.mit.edu	37	2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T	rs368802405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000420890.2	-	23	4283	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1389										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)			AATCTCTTCTCGAGGAACCAT	0.498																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(4165-4167)cGa>cAa		coiled-coil domain containing 141							53.0	55.0	54.0					2																	179701780		2203	4300	6503	SO:0001583	missense	285025	2	121398	38				g.chr2:179701780C>T	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.4166G>A	chr2.hg19:g.179701780C>T	ENSP00000395995:p.Arg1389Gln	1					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	p.R1389Q	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	23	4283	-			H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	1	1	hg19	c.4166G>A		1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680651	0.14907	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46063	0.88;1.54;1.54	6.17	-12.3	0.00002	6.17	-12.3	0.00002	.	1.416120	0.04518	N	0.384078	T	0.18759	0.0450	N	0.13235	0.315	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.29579	-1.0007	10	0.02654	T	1	5.3443	13.1713	0.59599	0.0:0.6227:0.1503:0.227	.	814;814	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Q	1389;833;814	ENSP00000395995:R1389Q;ENSP00000344627:R833Q;ENSP00000295723:R814Q	ENSP00000295723:R814Q	R	-	2	0	0	CCDC141	179410025	179410025	0.001000	0.12720	0.001000	0.08648	0.189000	0.23516	-2.550000	0.00929	-2.824000	0.00342	-0.982000	0.02568	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-5.035518	1	0.170000	NM_173648			57	56		166	162	1		1	0		0	0	39	0		1	0	0	0	0	1	0	57	166
CCDC141	285025	broad.mit.edu	37	2	179701839	179701839	+	Silent	SNP	G	G	A	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	ENST00000420890.2	-	23	4224	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_ENST00000295723.5_Silent_p.F794F|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1369										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)			TGAGGCCCGAGAATGCATCAG	0.488																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(4105-4107)ttC>ttT		coiled-coil domain containing 141							42.0	43.0	42.0					2																	179701839		2203	4300	6503	SO:0001819	synonymous_variant	285025	1	121390	27				g.chr2:179701839G>A	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.4107C>T	chr2.hg19:g.179701839G>A		1					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	p.F1369F	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	23	4224	-			H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	1	1	hg19	c.4107C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_173648			56	56		153	150	0		1	0		0	0	33	0		1	1.807768e-01	0	0	0	3	0	56	153
CCDC141	285025	broad.mit.edu	37	2	179714776	179714776	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1119										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)			AAGAAATTACCTTCAGTTTTT	0.313																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3355-3357)aaG>aaA		coiled-coil domain containing 141							81.0	82.0	82.0					2																	179714776		2203	4300	6503	SO:0001630	splice_region_variant	285025	1	121406	29				g.chr2:179714776C>T	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.3357+1G>A	chr2.hg19:g.179714776C>T		1					CCDC141_ENST00000295723.5_Splice_Site_p.K544K	p.K1119K	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	21	3474	-			H7C0P1|J3KNW6|Q8N8H3	Splice_Site	SNP	ENST00000420890.2	1	0	hg19	c.3357G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-2.853399	1	0.170000	NM_173648	Silent		53	53		283	280	1		1	0		0	0	36	0		1	0	0	0	0	1	0	53	283
CCDC141	285025	broad.mit.edu	37	2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1019										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)			AATACCTCTTCTATCACCTCC	0.353																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999030	0.990000	1.000000																										0				78						c.(3055-3057)Gaa>Aaa		coiled-coil domain containing 141							104.0	94.0	97.0					2																	179720079		2203	4300	6503	SO:0001583	missense	285025	0	0					g.chr2:179720079C>T	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.3055G>A	chr2.hg19:g.179720079C>T	ENSP00000395995:p.Glu1019Lys	1					CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	p.E1019K	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	19	3172	-			H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	1	1	hg19	c.3055G>A		1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470620	0.84533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000061	T	0.44414	0.1292	L	0.34521	1.04	0.35372	D	0.789158	D	0.65815	0.995	P	0.60173	0.87	T	0.52487	-0.8569	10	0.42905	T	0.14	-26.2853	14.1615	0.65450	0.0:0.9256:0.0:0.0744	.	444	Q6ZP82	CC141_HUMAN	K	1019;463;444	ENSP00000395995:E1019K;ENSP00000344627:E463K;ENSP00000295723:E444K	ENSP00000295723:E444K	E	-	1	0	0	CCDC141	179428324	179428324	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	3.896000	0.56266	2.518000	0.84900	0.655000	0.94253	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.318795	1	0.170000	NM_173648			39	38		315	312	1		1	0		0	0	67	0		1	3.568435e-02	0	0	0	3	0	39	315
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	866										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)			GCTGTAGGTTCTTTGCAGAAA	0.478																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(2596-2598)aaG>aaT		coiled-coil domain containing 141							176.0	170.0	172.0					2																	179730620		2203	4300	6503	SO:0001583	missense	285025	0	0					g.chr2:179730620C>A	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.2598G>T	chr2.hg19:g.179730620C>A	ENSP00000395995:p.Lys866Asn	1					CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	p.K866N	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	17	2715	-			H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	1	1	hg19	c.2598G>T		1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078922	0.76528	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.50277	0.75;1.34;1.34;1.3	6.07	5.19	0.71726	6.07	5.19	0.71726	.	0.095181	0.45361	D	0.000364	T	0.56558	0.1993	L	0.34521	1.04	0.31795	N	0.629176	D	0.76494	0.999	D	0.68192	0.956	T	0.62690	-0.6801	10	0.36615	T	0.2	-13.9934	15.2563	0.73588	0.0:0.933:0.0:0.067	.	291	Q6ZP82	CC141_HUMAN	N	866;310;291;866	ENSP00000395995:K866N;ENSP00000344627:K310N;ENSP00000295723:K291N;ENSP00000390190:K866N	ENSP00000295723:K291N	K	-	3	2	2	CCDC141	179438865	179438865	1.000000	0.71417	0.953000	0.39169	0.600000	0.36913	2.727000	0.47311	1.572000	0.49736	0.650000	0.86243	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	195		195	191	1	2.060000	-20.000000	1	0.170000	NM_173648			177	169		856	841	1		1	0		0	0	195	0		1	0	0	0	0	1	0	177	856
MSGN1	343930	broad.mit.edu	37	2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	72					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(214-216)gGc>gTc		mesogenin 1							39.0	46.0	44.0					2																	17998000		1926	4114	6040	SO:0001583	missense	343930	0	0					g.chr2:17998000G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.215G>T	chr2.hg19:g.17998000G>T	ENSP00000281047:p.Gly72Val	1						p.G72V	NM_001105569.1	NP_001099039.1	1	2	3	2.183349	A6NI15	MSGN1_HUMAN		1	238	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)			Missense_Mutation	SNP	ENST00000281047.3	1	1	hg19	c.215G>T	CCDS42657.1	1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266048	0.10294	.	.	ENSG00000151379	ENST00000281047	T	0.16196	2.36	5.25	2.36	0.29203	5.25	2.36	0.29203	.	0.451160	0.23656	N	0.045876	T	0.14184	0.0343	L	0.43152	1.355	0.18873	N	0.999986	B	0.29085	0.232	B	0.32533	0.147	T	0.22765	-1.0207	10	0.26408	T	0.33	-4.4513	8.327	0.32162	0.2753:0.0:0.7247:0.0	.	72	A6NI15	MSGN1_HUMAN	V	72	ENSP00000281047:G72V	ENSP00000281047:G72V	G	+	2	0	0	MSGN1	17861481	17861481	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	1.157000	0.31724	0.316000	0.23135	-0.345000	0.07892	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	1	0	1		2	2	2	0		0	0	77		77	59	1	2.060000	-2.807310	1	0.170000	XM_292850			94	91		484	439	1		1			0	0	77	0		1	0	0	0	0	0	0	94	484
MSGN1	343930	broad.mit.edu	37	2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	180					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(538-540)Gac>Tac		mesogenin 1							40.0	43.0	42.0					2																	17998323		2048	4191	6239	SO:0001583	missense	343930	0	0					g.chr2:17998323G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.538G>T	chr2.hg19:g.17998323G>T	ENSP00000281047:p.Asp180Tyr	1						p.D180Y	NM_001105569.1	NP_001099039.1	1	2	3	2.183349	A6NI15	MSGN1_HUMAN		1	561	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)			Missense_Mutation	SNP	ENST00000281047.3	1	1	hg19	c.538G>T	CCDS42657.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958390	0.74016	.	.	ENSG00000151379	ENST00000281047	D	0.97710	-4.5	5.97	5.97	0.96955	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.147023	0.64402	D	0.000012	D	0.96694	0.8921	N	0.19112	0.55	0.53688	D	0.999972	D	0.76494	0.999	P	0.60789	0.879	D	0.96618	0.9457	10	0.66056	D	0.02	-9.2098	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	180	A6NI15	MSGN1_HUMAN	Y	180	ENSP00000281047:D180Y	ENSP00000281047:D180Y	D	+	1	0	0	MSGN1	17861804	17861804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.344000	0.72991	2.837000	0.97791	0.655000	0.94253	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	XM_292850			48	47		276	273	1		1			0	0	61	0		1	0	0	0	0	0	0	48	276
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	667										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)			CATGCCAGCCGAAGGAGGCTA	0.468																																						ENST00000420890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1999-2001)Cgg>Tgg		coiled-coil domain containing 141		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	145.0	122.0	130.0		1999	2.3	0.3	2	dbSNP_134	130	0,8600		0,0,4300	no	missense	CCDC141	NM_173648.3	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	667/1531	179736940	3,13003	2203	4300	6503	SO:0001583	missense	285025	2	121412	37				g.chr2:179736940G>A	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.1999C>T	chr2.hg19:g.179736940G>A	ENSP00000395995:p.Arg667Trp	1					CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	p.R667W	NM_173648.3	NP_775919.3	1	2	3	2.111737	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)	13	2116	-			H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	1	1	hg19	c.1999C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170634	0.38315	6.81E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.44482	0.92;1.53;1.53;1.53	5.51	2.32	0.28847	5.51	2.32	0.28847	.	0.306192	0.23682	N	0.045611	T	0.21267	0.0512	N	0.14661	0.345	0.26784	N	0.969549	B	0.20459	0.045	B	0.15052	0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-3.0752	5.5109	0.16880	0.3894:0.0:0.6106:0.0	.	92	Q6ZP82	CC141_HUMAN	W	667;111;92;667;602	ENSP00000395995:R667W;ENSP00000344627:R111W;ENSP00000295723:R92W;ENSP00000390190:R667W	ENSP00000295723:R92W	R	-	1	2	2	CCDC141	179445185	179445185	0.574000	0.26684	0.278000	0.24718	0.823000	0.46562	0.882000	0.28186	0.684000	0.31448	-0.259000	0.10710	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_173648			71	71		367	359	1		1	0		0	0	59	0		1	2.708720e-02	0	0	0	2	0	71	367
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470	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.P470P(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)			GACGTTAGTACGGAGCAAAGA	0.552																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P470P(1)	large_intestine(1)	26						c.(1408-1410)ccG>ccA		zinc finger protein 385B							33.0	38.0	36.0					2																	180307983		2203	4299	6502	SO:0001819	synonymous_variant	151126	14	121408	40				g.chr2:180307983C>T	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.1410G>A	chr2.hg19:g.180307983C>T		1					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000336917.5_Silent_p.P368P	p.P470P	NM_152520.4	NP_689733.3	1	2	3	2.111737	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)	10	2013	-			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	1	1	hg19	c.1410G>A	CCDS33339.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-5.104588	1	0.170000	NM_152520			68	68		195	191	1		1	0		0	0	36	0		1	4.891939e-01	0	0	0	6	0	68	195
ZNF385B	151126	broad.mit.edu	37	2	180308082	180308082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000336917.5_Silent_p.P335P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	437	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)			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)			GCGAGGCAGAGGGCCGGGGTG	0.642																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999685	0.990000	1.000000																										0				26						c.(1309-1311)ccC>ccA		zinc finger protein 385B							26.0	35.0	32.0					2																	180308082		2203	4300	6503	SO:0001819	synonymous_variant	151126	0	0					g.chr2:180308082G>T	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.1311C>A	chr2.hg19:g.180308082G>T		1					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000336917.5_Silent_p.P335P	p.P437P	NM_152520.4	NP_689733.3	1	2	3	2.111737	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)	10	1914	-			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	1	1	hg19	c.1311C>A	CCDS33339.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	0		2	2	2	0		0	0	27		27	26	1	2.060000	-12.973820	1	0.170000	NM_152520			24	24		154	150	1		1	0		0	0	27	0		9.999998e-01	0	0	0	0	1	0	24	154
ZNF385B	151126	broad.mit.edu	37	2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	316	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)			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)			AGCCCCATTACGAGCTTCAAC	0.378																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(946-948)cGt>cAt		zinc finger protein 385B							124.0	113.0	117.0					2																	180310425		2203	4300	6503	SO:0001583	missense	151126	1	121412	30				g.chr2:180310425C>T	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.947G>A	chr2.hg19:g.180310425C>T	ENSP00000386845:p.Arg316His	1					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	p.R316H	NM_152520.4	NP_689733.3	1	2	3	2.111737	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)	8	1550	-			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	1	1	hg19	c.947G>A	CCDS33339.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.464584	0.96257	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.95	5.95	0.96441	5.95	5.95	0.96441	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.57312	-0.7833	10	0.44086	T	0.13	-8.0555	20.3748	0.98911	0.0:1.0:0.0:0.0	.	316;240	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	316;214;240;214;214	ENSP00000386845:R316H;ENSP00000338225:R214H;ENSP00000386379:R240H;ENSP00000386507:R214H;ENSP00000394038:R214H	ENSP00000338225:R214H	R	-	2	0	0	ZNF385B	180018670	180018670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-19.999930	1	0.170000	NM_152520			54	52		331	322	1		1	0		0	0	70	0		1	0	0	0	0	1	0	54	331
CWC22	57703	broad.mit.edu	37	2	180815412	180815412	+	Missense_Mutation	SNP	G	G	A	rs17778270	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180815412G>A	ENST00000410053.3	-	19	2266	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	CWC22_ENST00000295749.6_Missense_Mutation_p.A656V	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	656			A -> V (in dbSNP:rs17778270).		mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TGGTTTCTGCGCCACAATGAC	0.408													G|||	50	0.00998403	0.0008	0.013	5008	,	,		17089	0.0		0.0328	False		,,,				2504	0.0072					ENST00000410053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1966-1968)gCg>gTg		CWC22 spliceosome-associated protein		G	VAL/ALA	20,3962		0,20,1971	165.0	166.0	166.0		1967	5.3	0.9	2	dbSNP_123	166	269,8071		7,255,3908	yes	missense	CWC22	NM_020943.2	64	7,275,5879	AA,AG,GG		3.2254,0.5023,2.3454	benign	656/909	180815412	289,12033	1991	4170	6161	SO:0001583	missense	57703	2939	120936	68				g.chr2:180815412G>A		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1967C>T	chr2.hg19:g.180815412G>A	ENSP00000387006:p.Ala656Val	1					CWC22_ENST00000295749.6_Missense_Mutation_p.A656V	p.A656V	NM_020943.2	NP_065994.1	1	2	3	2.111737	Q9HCG8	CWC22_HUMAN		19	2266	-			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	1	0	hg19	c.1967C>T	CCDS46465.1	1	31	0.014194139194139194	0	0.0	7	0.019337016574585635	0	0.0	24	0.0316622691292876	G	18.43	3.621466	0.66787	0.005023	0.032254	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.26223	1.75;1.75;1.84	6.16	5.29	0.74685	6.16	5.29	0.74685	.	0.046327	0.85682	D	0.000000	T	0.10895	0.0266	L	0.50333	1.59	0.42933	D	0.994326	D	0.58268	0.982	P	0.44561	0.453	T	0.01081	-1.1458	10	0.42905	T	0.14	-11.9034	14.7713	0.69681	0.0686:0.0:0.9314:0.0	rs17778270;rs52835939;rs17778270	656	Q9HCG8	CWC22_HUMAN	V	656	ENSP00000387006:A656V;ENSP00000295749:A656V;ENSP00000384159:A656V	ENSP00000295749:A656V	A	-	2	0	0	CWC22	180523657	180523657	1.000000	0.71417	0.939000	0.37840	0.974000	0.67602	9.476000	0.97823	1.626000	0.50381	0.650000	0.86243	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.048230	1	0.170000	NM_020943			70	68		412	407	1		1	1		0	0	66	0		1	1	0	48	0	120	0	70	412
CWC22	57703	broad.mit.edu	37	2	180817221	180817221	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180817221T>C	ENST00000410053.3	-	17	2093	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	CWC22_ENST00000295749.6_Silent_p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	598					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGCATTAAGTTTAGGAAGAC	0.353																																						ENST00000410053.3	1.000000	0.670000	1	9.900000e-01	0.990000	0.976747	0.990000	1.000000																										0				30						c.(1792-1794)aaA>aaG		CWC22 spliceosome-associated protein							53.0	50.0	51.0					2																	180817221		1826	4068	5894	SO:0001819	synonymous_variant	57703	0	0					g.chr2:180817221T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1794A>G	chr2.hg19:g.180817221T>C		1					CWC22_ENST00000295749.6_Silent_p.K598K	p.K598K	NM_020943.2	NP_065994.1	1	2	3	2.111737	Q9HCG8	CWC22_HUMAN		17	2093	-			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	0	1	hg19	c.1794A>G	CCDS46465.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-11.508570	1	0.170000	NM_020943			5	5		34	34	1		1	1		0	0	11	0		9.419266e-01	9.977589e-01	0	41	0	59	0	5	34
CWC22	57703	broad.mit.edu	37	2	180837941	180837941	+	Silent	SNP	C	C	T	rs367980851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	261	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14506	0.0		0.0	False		,,,				2504	0.0					ENST00000410053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998993	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A261A(1)	large_intestine(1)	30						c.(781-783)gcG>gcA		CWC22 spliceosome-associated protein		T		5,3695		0,5,1845	57.0	53.0	55.0		783	-6.3	1.0	2		55	0,8194		0,0,4097	no	coding-synonymous	CWC22	NM_020943.2		0,5,5942	TT,TC,CC		0.0,0.1351,0.042		261/909	180837941	5,11889	1850	4097	5947	SO:0001819	synonymous_variant	57703	16	120702	40				g.chr2:180837941C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.783G>A	chr2.hg19:g.180837941C>T		1					CWC22_ENST00000295749.6_Silent_p.A261A	p.A261A	NM_020943.2	NP_065994.1	1	2	3	2.111737	Q9HCG8	CWC22_HUMAN		8	1082	-			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	0	1	hg19	c.783G>A	CCDS46465.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-8.836604	1	0.170000	NM_020943			11	11		56	53	1		1	1		0	0	11	0		9.984559e-01	9.983123e-01	0	12	0	51	0	11	56
KCNS3	3790	broad.mit.edu	37	2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	163					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498																																						ENST00000403915.1	1.000000	0.810000	1	9.700000e-01	0.990000	0.983117	0.990000	1.000000																										0				32						c.(487-489)Cga>Tga		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							64.0	69.0	67.0					2																	18112762		2203	4300	6503	SO:0001587	stop_gained	3790	0	0					g.chr2:18112762C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.487C>T	chr2.hg19:g.18112762C>T	ENSP00000385968:p.Arg163*	1					KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron	p.R163*	NM_001282428.1	NP_001269357.1	1	2	3	2.183349	Q9BQ31	KCNS3_HUMAN		3	938	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		D6W520|O43651|Q4ZFY1|Q96B56	Nonsense_Mutation	SNP	ENST00000403915.1	0	1	hg19	c.487C>T	CCDS1692.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995490	0.54147	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.88	0.769	0.18492	5.88	0.769	0.18492	.	0.362862	0.30602	N	0.009277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7012	0.12828	0.4916:0.2703:0.0:0.2381	.	.	.	.	X	163	.	ENSP00000305824:R163X	R	+	1	2	2	KCNS3	17976243	17976243	1.000000	0.71417	0.139000	0.22197	0.009000	0.06853	2.131000	0.42074	-0.144000	0.11314	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.318794	1	0.170000	NM_002252			30	28		298	290	0		1	1		0	0	62	0		1	9.995851e-01	0	6	0	115	0	30	298
KCNS3	3790	broad.mit.edu	37	2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	482					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453																																						ENST00000403915.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1444-1446)aCc>aTc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							84.0	80.0	81.0					2																	18113720		2203	4300	6503	SO:0001583	missense	3790	2	121412	36				g.chr2:18113720C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1445C>T	chr2.hg19:g.18113720C>T	ENSP00000385968:p.Thr482Ile	1					KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I|KCNS3_ENST00000465292.1_Intron	p.T482I	NM_001282428.1	NP_001269357.1	1	2	3	2.183349	Q9BQ31	KCNS3_HUMAN		3	1896	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	1	1	hg19	c.1445C>T	CCDS1692.1	1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325134	0.05350	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97041	-4.22;-4.22	5.91	1.86	0.25419	5.91	1.86	0.25419	.	1.066720	0.07169	N	0.852063	D	0.94456	0.8216	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	D	0.85296	0.1070	10	0.38643	T	0.18	.	6.756	0.23514	0.0:0.7048:0.1209:0.1743	.	482	Q9BQ31	KCNS3_HUMAN	I	482	ENSP00000385968:T482I;ENSP00000305824:T482I	ENSP00000305824:T482I	T	+	2	0	0	KCNS3	17977201	17977201	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.290000	0.18975	0.052000	0.16007	0.655000	0.94253	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_002252			115	114		286	282	1		1	1		0	0	74	0		1	1	0	20	0	121	0	115	286
CWC22	57703	broad.mit.edu	37	2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	185	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308																																						ENST00000410053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(553-555)cTt>cCt		CWC22 spliceosome-associated protein							65.0	63.0	63.0					2																	180842944		1796	4061	5857	SO:0001583	missense	57703	0	0					g.chr2:180842944A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.554T>C	chr2.hg19:g.180842944A>G	ENSP00000387006:p.Leu185Pro	1					CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	p.L185P	NM_020943.2	NP_065994.1	1	2	3	2.111737	Q9HCG8	CWC22_HUMAN		6	853	-			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	1	1	hg19	c.554T>C	CCDS46465.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410899	0.83340	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.060030	0.64402	D	0.000002	T	0.71676	0.3368	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81057	-0.1105	10	0.87932	D	0	-11.607	15.4442	0.75216	1.0:0.0:0.0:0.0	.	185	Q9HCG8	CWC22_HUMAN	P	185	ENSP00000387006:L185P;ENSP00000295749:L185P;ENSP00000384159:L185P	ENSP00000295749:L185P	L	-	2	0	0	CWC22	180551189	180551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.239000	0.73571	0.528000	0.53228	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_020943			25	25		79	79	1		1	1		0	0	19	0		1	9.998035e-01	0	18	0	30	0	25	79
UBE2E3	10477	broad.mit.edu	37	2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F|AC104076.3_ENST00000428080.1_RNA	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	2					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478																																						ENST00000410062.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(4-6)tCc>tTc		ubiquitin-conjugating enzyme E2E 3							41.0	49.0	46.0					2																	181846774		2203	4300	6503	SO:0001583	missense	10477	0	0					g.chr2:181846774C>T	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.5C>T	chr2.hg19:g.181846774C>T	ENSP00000386788:p.Ser2Phe	1					UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F	p.S2F	NM_006357.2	NP_006348.1	1	2	3	2.111737	Q969T4	UB2E3_HUMAN		2	398	+			B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	1	1	hg19	c.5C>T	CCDS2282.1	1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866090	0.71949	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.66995	-0.24;-0.24	5.15	3.33	0.38152	5.15	3.33	0.38152	.	0.084010	0.51477	D	0.000093	T	0.65396	0.2687	L	0.54323	1.7	0.58432	D	0.999996	B	0.27229	0.172	B	0.37387	0.248	T	0.65043	-0.6264	10	0.87932	D	0	.	10.7273	0.46077	0.0:0.7957:0.1325:0.0718	.	2	Q969T4	UB2E3_HUMAN	F	2	ENSP00000376215:S2F;ENSP00000386788:S2F	ENSP00000376215:S2F	S	+	2	0	0	UBE2E3	181555019	181555019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	0.668000	0.31126	-0.175000	0.13238	TCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	1	0	1		2	2	2	0		0	0	70		70	77	1	2.060000	-20.000000	1	0.170000	NM_006357			68	67		263	258	1		1	1		0	0	70	0		1	1	0	41	0	79	0	68	263
CERKL	375298	broad.mit.edu	37	2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000339098.5	-	9	1186	c.1187A>C	c.(1186-1188)aAc>aCc	p.N396T	CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000410087.3_Missense_Mutation_p.N370T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T			Q49MI3	CERKL_HUMAN	ceramide kinase-like	396					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303																																						ENST00000339098.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				32						c.(1186-1188)aAc>aCc		ceramide kinase-like							104.0	102.0	102.0					2																	182413296		2203	4300	6503	SO:0001583	missense	375298	0	0					g.chr2:182413296T>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1187A>C	chr2.hg19:g.182413296T>G	ENSP00000341159:p.Asn396Thr	1					CERKL_ENST00000410087.3_Missense_Mutation_p.N370T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T	p.N396T			1	2	3	2.111737	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)	9	1186	-			B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	1	1	hg19	c.1187A>C	CCDS42789.1	1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813822	0.32053	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.33;2.56;1.55;2.56;1.52	5.58	0.573	0.17363	5.58	0.573	0.17363	.	1.269650	0.04866	N	0.445003	T	0.20373	0.0490	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.38195	0.212;0.622;0.152;0.199;0.126	B;B;B;B;B	0.36092	0.055;0.217;0.116;0.117;0.035	T	0.15321	-1.0441	10	0.13470	T	0.59	.	4.6924	0.12786	0.1415:0.3046:0.0:0.5539	.	352;257;301;370;396	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	370;352;257;396;301	ENSP00000386725:N370T;ENSP00000387080:N352T;ENSP00000364108:N257T;ENSP00000341159:N396T;ENSP00000364109:N301T	ENSP00000341159:N396T	N	-	2	0	0	CERKL	182121541	182121541	0.000000	0.05858	0.012000	0.15200	0.977000	0.68977	0.544000	0.23253	0.071000	0.16664	0.533000	0.62120	AAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				27	27		146	146	1		1	1		0	0	32	0		1	7.675980e-01	0	5	0	12	0	27	146
NEUROD1	4760	broad.mit.edu	37	2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	236					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)			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)			GACATGGGAGCTGTCCATGGT	0.627											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000295108.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(706-708)aGc>aAc		neuronal differentiation 1							63.0	68.0	66.0					2																	182542881		2203	4300	6503	SO:0001583	missense	4760	0	0					g.chr2:182542881C>T	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.707G>A	chr2.hg19:g.182542881C>T	ENSP00000295108:p.Ser236Asn	1		OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1977	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.S236N	NM_002500.4	NP_002491.2	1	2	3	2.111737	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)	2	1164	-			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	1	1	hg19	c.707G>A	CCDS2283.1	1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841010	0.32513	.	.	ENSG00000162992	ENST00000295108	T	0.65364	-0.15	6.02	6.02	0.97574	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.130034	0.64402	D	0.000002	T	0.52853	0.1760	L	0.31420	0.93	0.47123	D	0.999328	B	0.32968	0.392	B	0.33960	0.173	T	0.45659	-0.9246	10	0.18276	T	0.48	-24.2673	19.1109	0.93315	0.0:1.0:0.0:0.0	.	236	Q13562	NDF1_HUMAN	N	236	ENSP00000295108:S236N	ENSP00000295108:S236N	S	-	2	0	0	NEUROD1	182251126	182251126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.688000	0.46984	2.850000	0.98022	0.650000	0.86243	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_002500			105	103		538	527	1		1	0		0	0	102	0		1	6.930174e-01	0	0	0	14	0	105	538
NEUROD1	4760	broad.mit.edu	37	2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	144	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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.R144L(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)			CTTGGCCAAGCGCAGAGTCTC	0.567																																						ENST00000295108.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997889	0.990000	1.000000																										1	Substitution - Missense(1)	p.R144L(1)	endometrium(1)	25						c.(430-432)cGc>cAc		neuronal differentiation 1							77.0	75.0	76.0					2																	182543157		2203	4300	6503	SO:0001583	missense	4760	0	0					g.chr2:182543157C>T	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.431G>A	chr2.hg19:g.182543157C>T	ENSP00000295108:p.Arg144His	1					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.R144H	NM_002500.4	NP_002491.2	1	2	3	2.111737	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)	2	888	-			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	1	1	hg19	c.431G>A	CCDS2283.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133671	0.77662	.	.	ENSG00000162992	ENST00000295108	D	0.98249	-4.82	6.16	6.16	0.99307	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	-7.4311	19.4236	0.94732	0.0:1.0:0.0:0.0	.	144	Q13562	NDF1_HUMAN	H	144	ENSP00000295108:R144H	ENSP00000295108:R144H	R	-	2	0	0	NEUROD1	182251402	182251402	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-15.837090	1	0.170000	NM_002500			49	49		437	429	1		1	0		0	0	77	1		1	5.582326e-01	0	0	0	18	0	49	437
SSFA2	6744	broad.mit.edu	37	2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000431877.2	+	11	2823	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	882						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			TAGTGCCTTCGCTTCCCCTTT	0.517																																						ENST00000431877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2644-2646)Gct>Tct		sperm specific antigen 2							137.0	121.0	127.0					2																	182781011		2203	4300	6503	SO:0001583	missense	6744	0	0					g.chr2:182781011G>T	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.2644G>T	chr2.hg19:g.182781011G>T	ENSP00000388731:p.Ala882Ser	1					SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S	p.A882S	NM_001130445.1	NP_001123917.1	1	2	3	2.111737	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)	11	2823	+			A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	1	1	hg19	c.2644G>T	CCDS46467.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.857345	0.00558	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.55	-11.1	0.00147	5.55	-11.1	0.00147	.	2.062670	0.01651	N	0.024554	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006	B;B;B;B;B	0.13407	0.003;0.009;0.003;0.003;0.003	T	0.09207	-1.0685	10	0.16420	T	0.52	5.4602	5.474	0.16686	0.163:0.2509:0.4531:0.133	.	729;391;882;882;882	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	S	882;882;882;729;391	ENSP00000388731:A882S;ENSP00000314669:A882S;ENSP00000387319:A882S;ENSP00000409867:A729S;ENSP00000386916:A391S	ENSP00000314669:A882S	A	+	1	0	0	SSFA2	182489256	182489256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.891000	0.01611	-3.744000	0.00112	-0.136000	0.14681	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-5.069180	1	0.170000	NM_006751			116	114		371	361	1		1	1		0	0	66	0		1	1	0	171	0	115	0	116	371
SSFA2	6744	broad.mit.edu	37	2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000431877.2	+	11	2954	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	925						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			ACTCACTGCAGAATCTTTCAC	0.393																																						ENST00000431877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2773-2775)caG>caT		sperm specific antigen 2							66.0	65.0	65.0					2																	182781142		2203	4300	6503	SO:0001583	missense	6744	0	0					g.chr2:182781142G>T	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.2775G>T	chr2.hg19:g.182781142G>T	ENSP00000388731:p.Gln925His	1					SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H	p.Q925H	NM_001130445.1	NP_001123917.1	1	2	3	2.111737	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)	11	2954	+			A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	1	1	hg19	c.2775G>T	CCDS46467.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529694	0.64860	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.099627	0.64402	D	0.000001	T	0.64724	0.2624	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.65796	-0.6081	10	0.62326	D	0.03	-7.6063	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	772;434;925;925;925	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	925;925;925;772;434	ENSP00000388731:Q925H;ENSP00000314669:Q925H;ENSP00000387319:Q925H;ENSP00000409867:Q772H;ENSP00000386916:Q434H	ENSP00000314669:Q925H	Q	+	3	2	2	SSFA2	182489387	182489387	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_006751			50	49		247	243	1		1	1		0	0	68	0		1	1	0	27	0	336	0	50	247
SSFA2	6744	broad.mit.edu	37	2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T	rs576369806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000431877.2	+	13	3099	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	974						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			GTTTAGAACACAAATGATGGA	0.363																																						ENST00000431877.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2920-2922)Caa>Taa		sperm specific antigen 2							69.0	71.0	70.0					2																	182783536		2203	4300	6503	SO:0001587	stop_gained	6744	0	0					g.chr2:182783536C>T	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.2920C>T	chr2.hg19:g.182783536C>T	ENSP00000388731:p.Gln974*	1					SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*	p.Q974*	NM_001130445.1	NP_001123917.1	1	2	3	2.111737	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)	13	3099	+			A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	0	1	hg19	c.2920C>T	CCDS46467.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.729520|9.729520	0.99249|0.99249	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.051759|.	0.85682|.	D|.	0.000000|.	.|D	.|0.83440	.|0.5255	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83973	.|0.0328	.|4	0.32370|0.87932	T|D	0.25|0	-15.6619|-15.6619	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	974;974;974;821;483|12	.|.	ENSP00000314669:Q974X|ENSP00000390457:T12I	Q|T	+|+	1|2	0|0	0|0	SSFA2|SSFA2	182491781|182491781	182491781|182491781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.538000|6.538000	0.73852|0.73852	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CAA|ACA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006751			51	51		251	248	1		1	1		0	0	35	0		1	1	0	13	0	247	0	51	251
PDE1A	5136	broad.mit.edu	37	2	183387083	183387083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000410103.1	-	2	104	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000435564.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000536095.1_5'Flank|PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7					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)			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)	ATTCTTCAATCTCTGTGGCAC	0.408																																						ENST00000410103.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(19-21)gaG>gaA		phosphodiesterase 1A, calmodulin-dependent	Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)						149.0	145.0	146.0					2																	183387083		2202	4299	6501	SO:0001819	synonymous_variant	5136	0	0					g.chr2:183387083C>T		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.21G>A	chr2.hg19:g.183387083C>T		1					PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000536095.1_5'Flank|PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000435564.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E	p.E7E	NM_001003683.2	NP_001003683.1	1	2	3	2.111737	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)	2	104	-			D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	1	1	hg19	c.21G>A	CCDS33344.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				93	92		492	482	1		1			0	0	71	0		1	0	0	0	0	0	0	93	492
FRZB	2487	broad.mit.edu	37	2	183699691	183699691	+	Splice_Site	SNP	C	C	T	rs373076417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428																																						ENST00000295113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(862-864)cGc>cAc		frizzled-related protein		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		863	5.6	1.0	2		78	0,8600		0,0,4300	no	missense-near-splice	FRZB	NM_001463.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	288/326	183699691	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	2487	3	121404	34				g.chr2:183699691C>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1G>A	chr2.hg19:g.183699691C>T		1						p.R288H	NM_001463.3	NP_001454.2	1	2	3	2.111737	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)	6	1472	-			O00181|Q99686	Splice_Site	SNP	ENST00000295113.4	1	0	hg19	c.863G>A	CCDS2286.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447749	0.84101	2.27E-4	0.0	ENSG00000162998	ENST00000295113	T	0.25579	1.79	5.6	5.6	0.85130	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.34453	-0.9828	10	0.72032	D	0.01	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	288	Q92765	SFRP3_HUMAN	H	288	ENSP00000295113:R288H	ENSP00000295113:R288H	R	-	2	0	0	FRZB	183407936	183407936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.648000	0.89879	0.650000	0.86243	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-5.574040	1	0.170000	NM_001463	Missense_Mutation		110	109		329	322	1		1	0		0	0	65	0		1	1	0	0	0	243	0	110	329
NCKAP1	10787	broad.mit.edu	37	2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1079					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)			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)			TTCTCTATTTCTTGTTGTAGT	0.313																																						ENST00000361354.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3235-3237)aGa>aTa		NCK-associated protein 1							100.0	99.0	99.0					2																	183791578		2202	4297	6499	SO:0001583	missense	10787	0	0					g.chr2:183791578C>A	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.3236G>T	chr2.hg19:g.183791578C>A	ENSP00000355348:p.Arg1079Ile	1					NCKAP1_ENST00000478449.1_5'Flank|NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I	p.R1079I	NM_013436.3	NP_038464.1	1	2	3	2.111737	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)	30	3608	-			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	1	1	hg19	c.3236G>T	CCDS2287.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.162703	0.94727	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.046284	0.85682	D	0.000000	T	0.56775	0.2008	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.83	T	0.59118	-0.7514	10	0.66056	D	0.02	-11.3828	19.0627	0.93099	0.0:1.0:0.0:0.0	.	1079;1085	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	1079;1085	ENSP00000355348:R1079I;ENSP00000354251:R1085I	ENSP00000354251:R1085I	R	-	2	0	0	NCKAP1	183499823	183499823	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.578000	0.82498	2.487000	0.83934	0.585000	0.79938	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-5.437750	1	0.170000	NM_205842			77	77		223	221	1		1	1		0	0	57	0		1	1	0	78	0	472	0	77	223
NCKAP1	10787	broad.mit.edu	37	2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1018					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)			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)			GCAGGGCTGTACTGAGACATC	0.363																																						ENST00000361354.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3052-3054)Tac>Cac		NCK-associated protein 1							86.0	83.0	84.0					2																	183793529		2203	4299	6502	SO:0001583	missense	10787	0	0					g.chr2:183793529A>G	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.3052T>C	chr2.hg19:g.183793529A>G	ENSP00000355348:p.Tyr1018His	1					NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H	p.Y1018H	NM_013436.3	NP_038464.1	1	2	3	2.111737	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)	28	3424	-			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	1	1	hg19	c.3052T>C	CCDS2287.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113469	0.77210	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.77611	-0.2523	10	0.87932	D	0	-11.5344	15.8359	0.78796	1.0:0.0:0.0:0.0	.	1018;1024	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	1018;1024	ENSP00000355348:Y1018H;ENSP00000354251:Y1024H	ENSP00000354251:Y1024H	Y	-	1	0	0	NCKAP1	183501774	183501774	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.229000	0.95273	2.206000	0.71126	0.383000	0.25322	TAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_205842			76	75		261	253	1		1	1		0	0	69	0		1	1	0	54	0	337	0	76	261
NCKAP1	10787	broad.mit.edu	37	2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	915					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)			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)			TGATCGGAAGGATAAAATTAC	0.333																																						ENST00000361354.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2743-2745)tCc>tTc		NCK-associated protein 1							124.0	120.0	121.0					2																	183800055		2203	4297	6500	SO:0001583	missense	10787	0	0					g.chr2:183800055G>A	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.2744C>T	chr2.hg19:g.183800055G>A	ENSP00000355348:p.Ser915Phe	1					NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F	p.S915F	NM_013436.3	NP_038464.1	1	2	3	2.111737	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)	25	3116	-			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	1	1	hg19	c.2744C>T	CCDS2287.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047969	0.93740	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.60052	-0.7338	10	0.32370	T	0.25	-7.4815	19.2877	0.94085	0.0:0.0:1.0:0.0	.	915;921	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	915;921	ENSP00000355348:S915F;ENSP00000354251:S921F	ENSP00000354251:S921F	S	-	2	0	0	NCKAP1	183508300	183508300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.638000	0.89438	0.585000	0.79938	TCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_205842			66	64		223	217	1		1	1		0	0	85	0		1	1	0	61	0	464	0	66	223
NCKAP1	10787	broad.mit.edu	37	2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	321					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)			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)			ATGTCATTAATACGTTTATTA	0.313																																						ENST00000361354.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				45						c.(961-963)Att>Gtt		NCK-associated protein 1							61.0	62.0	62.0					2																	183850942		2203	4300	6503	SO:0001583	missense	10787	0	0					g.chr2:183850942T>C	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.961A>G	chr2.hg19:g.183850942T>C	ENSP00000355348:p.Ile321Val	1					NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	p.I321V	NM_013436.3	NP_038464.1	1	2	3	2.111737	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)	10	1333	-			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	1	1	hg19	c.961A>G	CCDS2287.1	1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150960	0.21371	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.045134	0.85682	D	0.000000	T	0.17323	0.0416	N	0.13327	0.33	0.58432	D	0.999997	B;B	0.18166	0.026;0.012	B;B	0.17979	0.02;0.012	T	0.06023	-1.0850	10	0.05721	T	0.95	-12.7699	14.7984	0.69894	0.0:0.0:0.0:1.0	.	321;327	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	321;327	ENSP00000355348:I321V;ENSP00000354251:I327V	ENSP00000354251:I327V	I	-	1	0	0	NCKAP1	183559187	183559187	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.654000	0.61469	2.106000	0.64143	0.402000	0.26972	ATT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_205842			32	32		156	153	1		1	1		0	0	16	0		1	1	0	102	0	186	0	32	156
NCKAP1	10787	broad.mit.edu	37	2	183867735	183867735	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	112					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)			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)			CGTCAATAGTATTCAGCAATT	0.308																																						ENST00000361354.4	1.000000	0.320000	1	4.800000e-01	0.700000	0.714390	0.700000	1.000000																										0				45						c.(334-336)aaT>aaC		NCK-associated protein 1							45.0	46.0	46.0					2																	183867735		2203	4296	6499	SO:0001819	synonymous_variant	10787	0	0					g.chr2:183867735A>G	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.336T>C	chr2.hg19:g.183867735A>G		1					NCKAP1_ENST00000360982.2_Silent_p.N118N	p.N112N	NM_013436.3	NP_038464.1	1	2	3	2.111737	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)	4	708	-			O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	1	1	hg19	c.336T>C	CCDS2287.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-11.632480	1	0.170000	NM_205842			8	8		149	144	0		1	1		0	0	52	0		9.885271e-01	9.981077e-01	0	8	0	218	0	8	149
ZNF804A	91752	broad.mit.edu	37	2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875							metal ion binding (GO:0046872)			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						AACAAACCAATTAAGAAACAA	0.363																																						ENST00000302277.6	1.000000	0.750000	1	8.900000e-01	0.990000	0.962161	0.990000	1.000000																										0				146						c.(2623-2625)Tta>Gta		zinc finger protein 804A							87.0	80.0	82.0					2																	185802746		2203	4300	6503	SO:0001583	missense	91752	0	0					g.chr2:185802746T>G	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.2623T>G	chr2.hg19:g.185802746T>G	ENSP00000303252:p.Leu875Val	1						p.L875V	NM_194250.1	NP_919226.1	1	2	3	2.111737	Q7Z570	Z804A_HUMAN		4	3217	+			A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	1	1	hg19	c.2623T>G	CCDS2291.1	1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.259109	0.00021	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.42	1.27	0.21489	5.42	1.27	0.21489	.	1.099100	0.07006	N	0.824313	T	0.01940	0.0061	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45542	-0.9254	10	0.06625	T	0.88	-1.0291	1.7147	0.02899	0.1615:0.1326:0.4125:0.2934	.	875	Q7Z570	Z804A_HUMAN	V	875	ENSP00000303252:L875V	ENSP00000303252:L875V	L	+	1	2	2	ZNF804A	185510991	185510991	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.345000	0.19979	0.234000	0.21139	-0.452000	0.05504	TTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_194250			40	39		451	444	0		1	0		0	0	79	0		1	1.998351e-02	0	0	0	3	0	40	451
ZNF804A	91752	broad.mit.edu	37	2	185803264	185803264	+	Silent	SNP	A	A	G	rs201456176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1047							metal ion binding (GO:0046872)			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						TCAAAAATGTACCATGTGAGG	0.458																																						ENST00000302277.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				146						c.(3139-3141)gtA>gtG		zinc finger protein 804A							79.0	74.0	76.0					2																	185803264		2203	4300	6503	SO:0001819	synonymous_variant	91752	2	121412	35				g.chr2:185803264A>G	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.3141A>G	chr2.hg19:g.185803264A>G		1						p.V1047V	NM_194250.1	NP_919226.1	1	2	3	2.111737	Q7Z570	Z804A_HUMAN		4	3735	+			A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	1	1	hg19	c.3141A>G	CCDS2291.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_194250			146	144		437	427	1		1	0		0	0	90	0		1	6.346373e-02	0	0	0	2	0	146	437
FSIP2	401024	broad.mit.edu	37	2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G	rs549664259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000424728.1	+	17	17047	c.17047A>G	c.(17047-17049)Aat>Gat	p.N5683D	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5683										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378																																						ENST00000424728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(17047-17049)Aat>Gat		fibrous sheath interacting protein 2							71.0	67.0	68.0					2																	186671080		1839	4083	5922	SO:0001583	missense	401024	0	0					g.chr2:186671080A>G	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.17047A>G	chr2.hg19:g.186671080A>G	ENSP00000401306:p.Asn5683Asp	1					FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D	p.N5683D			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		17	17047	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	1	1	hg19	c.17047A>G		1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909852	0.33721	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.21	5.21	0.72293	5.21	5.21	0.72293	.	.	.	.	.	T	0.45418	0.1341	L	0.32530	0.975	0.29107	N	0.881129	.	.	.	.	.	.	T	0.47849	-0.9085	7	0.56958	D	0.05	.	11.3864	0.49787	1.0:0.0:0.0:0.0	.	.	.	.	D	5772;5683	ENSP00000344403:N5772D;ENSP00000401306:N5683D	ENSP00000344403:N5772D	N	+	1	0	0	FSIP2	186379325	186379325	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.007000	0.57093	2.175000	0.68902	0.482000	0.46254	AAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_173651			78	76		341	337	1		1			0	0	81	0		1	0	0	0	0	0	0	78	341
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000424728.1	+	17	17675	c.17675C>A	c.(17674-17676)cCt>cAt	p.P5892H	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5892										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343																																						ENST00000424728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(17674-17676)cCt>cAt		fibrous sheath interacting protein 2							61.0	59.0	59.0					2																	186671708		1851	4106	5957	SO:0001583	missense	401024	0	0					g.chr2:186671708C>A	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.17675C>A	chr2.hg19:g.186671708C>A	ENSP00000401306:p.Pro5892His	1					FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H	p.P5892H			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		17	17675	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	1	1	hg19	c.17675C>A		1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542692	0.00934	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	4.52	1.24	0.21308	4.52	1.24	0.21308	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19844	-1.0293	7	0.44086	T	0.13	.	6.0926	0.20003	0.3565:0.5258:0.1177:0.0	.	.	.	.	H	5981;5892	ENSP00000344403:P5981H;ENSP00000401306:P5892H	ENSP00000344403:P5981H	P	+	2	0	0	FSIP2	186379953	186379953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.020000	0.15106	-0.479000	0.04858	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.028143	1	0.170000	NM_173651			53	53		285	283	1		1			0	0	78	0		1	0	0	0	0	0	0	53	285
FSIP2	401024	broad.mit.edu	37	2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000424728.1	+	17	17825	c.17825G>A	c.(17824-17826)gGa>gAa	p.G5942E	FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5942										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318																																						ENST00000424728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(17824-17826)gGa>gAa		fibrous sheath interacting protein 2							106.0	103.0	104.0					2																	186671858		1813	4069	5882	SO:0001583	missense	401024	0	0					g.chr2:186671858G>A	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.17825G>A	chr2.hg19:g.186671858G>A	ENSP00000401306:p.Gly5942Glu	1					FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E	p.G5942E			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		17	17825	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	1	1	hg19	c.17825G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938612	0.34189	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.53	4.8	2.01	0.26516	4.8	2.01	0.26516	.	0.701833	0.13045	N	0.418241	T	0.43389	0.1245	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	8	0.38643	T	0.18	.	6.7008	0.23225	0.2981:0.0:0.7019:0.0	.	.	.	.	E	6031;5942	ENSP00000344403:G6031E;ENSP00000401306:G5942E	ENSP00000344403:G6031E	G	+	2	0	0	FSIP2	186380103	186380103	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	0.567000	0.23608	0.232000	0.21100	0.491000	0.48974	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.110506	1	0.170000	NM_173651			79	78		378	374	1		1			0	0	86	0		1	0	0	0	0	0	0	79	378
FSIP2	401024	broad.mit.edu	37	2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000424728.1	+	17	18541	c.18541G>T	c.(18541-18543)Gaa>Taa	p.E6181*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6181										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303																																						ENST00000424728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(18541-18543)Gaa>Taa		fibrous sheath interacting protein 2							47.0	42.0	44.0					2																	186672574		1797	4061	5858	SO:0001587	stop_gained	401024	0	0					g.chr2:186672574G>T	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.18541G>T	chr2.hg19:g.186672574G>T	ENSP00000401306:p.Glu6181*	1					FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*	p.E6181*			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		17	18541	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	ENST00000424728.1	0	1	hg19	c.18541G>T		1	.	.	.	.	.	.	.	.	.	.	G	57	29.478575	0.99975	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.96	3.11	0.35812	4.96	3.11	0.35812	.	0.364751	0.23740	N	0.045026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3689	0.16129	0.1048:0.0:0.6956:0.1996	.	.	.	.	X	6270;6181	.	ENSP00000344403:E6270X	E	+	1	0	0	FSIP2	186380819	186380819	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.229000	0.51278	0.645000	0.30675	0.484000	0.47621	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_173651			66	65		170	166	1		1			0	0	59	0		1	0	0	0	0	0	0	66	170
FSIP2	401024	broad.mit.edu	37	2	186673515	186673515	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186673515A>G	ENST00000424728.1	+	17	19482	c.19482A>G	c.(19480-19482)gaA>gaG	p.E6494E	FSIP2_ENST00000343098.5_Silent_p.E6583E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6494										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGCCCAAGAACATGCTTTTA	0.323																																						ENST00000424728.1	1.000000	0.290000	6.700000e-01	3.800000e-01	0.490000	0.540611	0.490000	0.470000																										0				69						c.(19480-19482)gaA>gaG		fibrous sheath interacting protein 2							60.0	58.0	58.0					2																	186673515		1815	4064	5879	SO:0001819	synonymous_variant	401024	0	0					g.chr2:186673515A>G	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.19482A>G	chr2.hg19:g.186673515A>G		1					FSIP2_ENST00000343098.5_Silent_p.E6583E	p.E6494E			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		17	19482	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	1	1	hg19	c.19482A>G		0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.913082	1	0.170000	NM_173651			17	17		437	431	0		1			0	0	85	0		9.999626e-01	0	0	0	0	0	0	17	437
FSIP2	401024	broad.mit.edu	37	2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000424728.1	+	18	19835	c.19835C>T	c.(19834-19836)gCt>gTt	p.A6612V	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6612										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284																																						ENST00000424728.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(19834-19836)gCt>gTt		fibrous sheath interacting protein 2							30.0	29.0	29.0					2																	186678279		1797	4061	5858	SO:0001583	missense	401024	0	0					g.chr2:186678279C>T	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.19835C>T	chr2.hg19:g.186678279C>T	ENSP00000401306:p.Ala6612Val	1					FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V	p.A6612V			1	2	3	2.111737	Q5CZC0	FSIP2_HUMAN		18	19835	+			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	1	1	hg19	c.19835C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498684	0.26861	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.84	5.28	4.4	0.53042	5.28	4.4	0.53042	.	0.657980	0.14932	N	0.290028	T	0.38453	0.1041	N	0.22421	0.69	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25047	-1.0143	8	0.29301	T	0.29	.	11.9003	0.52680	0.0:0.1782:0.8218:0.0	.	.	.	.	V	6701;6612	ENSP00000344403:A6701V;ENSP00000401306:A6612V	ENSP00000344403:A6701V	A	+	2	0	0	FSIP2	186386524	186386524	1.000000	0.71417	0.196000	0.23383	0.000000	0.00434	3.393000	0.52544	1.462000	0.47948	-0.280000	0.10049	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_173651			24	23		82	80	1		1			0	0	19	0		9.999999e-01	0	0	0	0	0	0	24	82
ZC3H15	55854	broad.mit.edu	37	2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	251	Required for interaction with DRG1. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368																																						ENST00000337859.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(751-753)aCt>aTt		zinc finger CCCH-type containing 15							81.0	80.0	80.0					2																	187370212		1834	4088	5922	SO:0001583	missense	55854	0	0					g.chr2:187370212C>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.752C>T	chr2.hg19:g.187370212C>T	ENSP00000338788:p.Thr251Ile	1					AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	p.T251I	NM_018471.2	NP_060941.2	1	2	3	2.111737	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)	7	979	+			B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	1	1	hg19	c.752C>T	CCDS42791.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.096806	0.94197	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.58797	0.31	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84774	0.0769	10	0.87932	D	0	-7.9277	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251	Q8WU90	ZC3HF_HUMAN	I	251;46;251	ENSP00000338788:T251I	ENSP00000338788:T251I	T	+	2	0	0	ZC3H15	187078457	187078457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	ACT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_018471			71	70		255	251	1		1	1		0	0	41	0		1	1	0	69	0	232	0	71	255
ITGAV	3685	broad.mit.edu	37	2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	24					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)			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)	CTCGGGACTCCTGCTACCTCT	0.672																																					Melanoma(58;108 1995 6081)	ENST00000261023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(70-72)Ctg>Atg		integrin, alpha V	Antithymocyte globulin(DB00098)						32.0	36.0	35.0					2																	187455135		2203	4300	6503	SO:0001583	missense	3685	0	0					g.chr2:187455135C>A		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.70C>A	chr2.hg19:g.187455135C>A	ENSP00000261023:p.Leu24Met	1					ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	p.L24M	NM_002210.3	NP_002201	1	2	3	2.111737	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	1	344	+			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	1	1	hg19	c.70C>A	CCDS2292.1	1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515380	0.44763	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85411	-1.98;-1.98	4.18	3.25	0.37280	4.18	3.25	0.37280	.	0.974764	0.08378	N	0.954986	D	0.85204	0.5643	M	0.71036	2.16	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.78478	-0.2188	10	0.36615	T	0.2	.	4.9857	0.14189	0.0:0.5721:0.2921:0.1358	.	24;24	P06756-2;P06756	.;ITAV_HUMAN	M	24	ENSP00000261023:L24M;ENSP00000364042:L24M	ENSP00000261023:L24M	L	+	1	2	2	ITGAV	187163380	187163380	0.050000	0.20438	0.997000	0.53966	0.938000	0.57974	0.460000	0.21924	0.853000	0.35312	0.462000	0.41574	CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_002210			73	72		247	245	0		1	1		0	0	41	0		1	9.999999e-01	0	8	0	76	0	73	247
ITGAV	3685	broad.mit.edu	37	2	187503034	187503034	+	Missense_Mutation	SNP	G	G	T	rs199603191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503034G>T	ENST00000261023.3	+	9	1107	c.833G>T	c.(832-834)aGg>aTg	p.R278M	ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M|ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	278					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)			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)	AGAGCAGCAAGGACTTTGGGA	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3	1.000000	0.180000	6.200000e-01	2.800000e-01	0.410000	0.468350	0.410000	0.380000																										0				47						c.(832-834)aGg>aTg		integrin, alpha V	Antithymocyte globulin(DB00098)						92.0	93.0	93.0					2																	187503034		2203	4300	6503	SO:0001583	missense	3685	0	0					g.chr2:187503034G>T		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.833G>T	chr2.hg19:g.187503034G>T	ENSP00000261023:p.Arg278Met	1					ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M|ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M	p.R278M	NM_002210.3	NP_002201	1	2	3	2.111737	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	9	1107	+			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	0	1	hg19	c.833G>T	CCDS2292.1	0	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707136	0.68615	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.68025	-0.3;-0.3;-0.3	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.146549	0.64402	D	0.000008	T	0.65112	0.2660	N	0.17594	0.5	0.44036	D	0.996766	D;B;D	0.62365	0.991;0.082;0.991	P;B;P	0.62491	0.903;0.037;0.903	T	0.63382	-0.6650	10	0.30854	T	0.27	.	12.5628	0.56293	0.076:0.0:0.924:0.0	.	232;242;278	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	M	278;278;242;232	ENSP00000261023:R278M;ENSP00000364042:R242M;ENSP00000404291:R232M	ENSP00000261023:R278M	R	+	2	0	0	ITGAV	187211279	187211279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	2.548000	0.85928	0.643000	0.83706	AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.119411	1	0.170000	NM_002210			8	8		260	253	0		1	1		0	0	54	0		9.884855e-01	9.986118e-01	0	9	0	404	0	8	260
ITGAV	3685	broad.mit.edu	37	2	187503186	187503186	+	Silent	SNP	C	C	T	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Silent_p.G253G|ITGAV_ENST00000374907.3_Silent_p.G263G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	299					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)			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)	ATTTTACTGGCGAGCAGGTAT	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(895-897)ggC>ggT		integrin, alpha V	Antithymocyte globulin(DB00098)	C	,,	2,4402	4.2+/-10.8	0,2,2200	84.0	86.0	85.0		759,789,897	0.8	1.0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	253/1003,263/1013,299/1049	187503186	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	3685	1	121400	36				g.chr2:187503186C>T		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.897C>T	chr2.hg19:g.187503186C>T		1					ITGAV_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G|AC017101.10_ENST00000453665.1_RNA	p.G299G	NM_002210.3	NP_002201	1	2	3	2.111737	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	10	1171	+			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	1	1	hg19	c.897C>T	CCDS2292.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.177324	1	0.170000	NM_002210			58	56		286	281	1		1	1		0	0	50	0		1	1	0	27	0	297	0	58	286
ITGAV	3685	broad.mit.edu	37	2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	732					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)			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)	TTTCAGTGTGCACCAGCAGTC	0.318																																					Melanoma(58;108 1995 6081)	ENST00000261023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2194-2196)Cac>Tac		integrin, alpha V	Antithymocyte globulin(DB00098)						101.0	97.0	99.0					2																	187531458		2203	4300	6503	SO:0001583	missense	3685	0	0					g.chr2:187531458C>T		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.2194C>T	chr2.hg19:g.187531458C>T	ENSP00000261023:p.His732Tyr	1					ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|AC017101.10_ENST00000453665.1_RNA	p.H732Y	NM_002210.3	NP_002201	1	2	3	2.111737	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	22	2468	+			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	1	1	hg19	c.2194C>T	CCDS2292.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463354	0.84425	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.62723	1.935	0.80722	D	1	P;P;P	0.47910	0.902;0.659;0.902	P;P;P	0.54270	0.747;0.5;0.747	T	0.56589	-0.7954	10	0.51188	T	0.08	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	686;696;732	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	732;696;686	ENSP00000261023:H732Y;ENSP00000364042:H696Y;ENSP00000404291:H686Y	ENSP00000261023:H732Y	H	+	1	0	0	ITGAV	187239703	187239703	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.907000	0.56348	2.664000	0.90586	0.557000	0.71058	CAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-19.999990	1	0.170000	NM_002210			56	56		331	327	1		1	1		0	0	56	0		1	1	0	67	0	402	0	56	331
ZSWIM2	151112	broad.mit.edu	37	2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	332					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)			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)			ACTATTCTTAGTAATCAGTTG	0.388																																						ENST00000295131.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(994-996)aCt>aTt		zinc finger, SWIM-type containing 2							195.0	183.0	187.0					2																	187694554		2203	4300	6503	SO:0001583	missense	151112	1	121410	31				g.chr2:187694554G>A	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.995C>T	chr2.hg19:g.187694554G>A	ENSP00000295131:p.Thr332Ile	1						p.T332I	NM_182521.2	NP_872327.2	1	2	3	2.111737	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)	8	1034	-			B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	1	1	hg19	c.995C>T	CCDS33348.1	1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717424	0.68844	.	.	ENSG00000163012	ENST00000295131	T	0.67523	-0.27	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000026	T	0.71710	0.3372	L	0.47190	1.495	0.34588	D	0.715199	D	0.67145	0.996	P	0.56612	0.802	T	0.79766	-0.1665	10	0.72032	D	0.01	-15.1682	13.4258	0.61024	0.0:0.1572:0.8428:0.0	.	332	Q8NEG5	ZSWM2_HUMAN	I	332	ENSP00000295131:T332I	ENSP00000295131:T332I	T	-	2	0	0	ZSWIM2	187402799	187402799	1.000000	0.71417	0.620000	0.29132	0.859000	0.49053	4.432000	0.59922	2.873000	0.98535	0.563000	0.77884	ACT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_182521			108	108		475	467	1		1			0	0	88	0		1	0	0	0	0	0	0	108	475
TFPI	7035	broad.mit.edu	37	2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				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)			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)	CCCACATCCACTGTACTTAAA	0.408																																						ENST00000233156.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(742-744)aGt>aAt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)						158.0	152.0	154.0					2																	188332545		2203	4300	6503	SO:0001583	missense	7035	1	121408	32				g.chr2:188332545C>T		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.743G>A	chr2.hg19:g.188332545C>T	ENSP00000233156:p.Ser248Asn	1					AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N	p.S248N	NM_006287.4	NP_006278.1	1	2	3	2.111737	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)	7	1037	-			O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	1	1	hg19	c.743G>A	CCDS2294.1	1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355321	0.61293	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.58060	0.36;0.36;0.36	5.44	3.54	0.40534	5.44	3.54	0.40534	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.54367	0.1854	M	0.71581	2.175	0.29044	N	0.884898	P	0.52842	0.956	P	0.46049	0.502	T	0.54516	-0.8282	10	0.33141	T	0.24	.	12.2335	0.54500	0.0:0.6561:0.3439:0.0	.	248	P10646	TFPI1_HUMAN	N	248	ENSP00000376172:S248N;ENSP00000233156:S248N;ENSP00000397248:S248N	ENSP00000233156:S248N	S	-	2	0	0	TFPI	188040790	188040790	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.230000	0.42999	0.694000	0.31654	0.557000	0.71058	AGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_006287			130	129		440	436	1		1	1		0	0	90	0		1	1	0	40	0	181	0	130	440
MYT1L	23040	broad.mit.edu	37	2	1893190	1893190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	781					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)			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)		TGTCCCGCGGCCTCTGCTTGT	0.617																																						ENST00000399161.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(2341-2343)agG>agA		myelin transcription factor 1-like							58.0	61.0	60.0					2																	1893190		2046	4187	6233	SO:0001819	synonymous_variant	23040	0	0					g.chr2:1893190C>T	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.2343G>A	chr2.hg19:g.1893190C>T		1					MYT1L_ENST00000428368.2_Silent_p.R779R	p.R781R	NM_015025.2	NP_055840.2	1	2	3	2.183349	Q9UL68	MYT1L_HUMAN		16	3090	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	1	1	hg19	c.2343G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_015025			66	64		314	308	1		1			0	0	62	0		1	0	0	0	0	0	0	66	314
TFPI	7035	broad.mit.edu	37	2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	95	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				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)			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)	TTCCAGACTTTCAAATCGATT	0.363																																						ENST00000233156.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(283-285)gAa>gCa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)						77.0	80.0	79.0					2																	188361643		2203	4300	6503	SO:0001583	missense	7035	0	0					g.chr2:188361643T>G		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.284A>C	chr2.hg19:g.188361643T>G	ENSP00000233156:p.Glu95Ala	1					AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A	p.E95A	NM_006287.4	NP_006278.1	1	2	3	2.111737	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)	3	578	-			O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	1	1	hg19	c.284A>C	CCDS2294.1	1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095576	0.36952	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.62	1.51	0.23008	5.62	1.51	0.23008	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.051830	0.07336	N	0.879995	T	0.44767	0.1309	L	0.44542	1.39	0.09310	N	1	P;B	0.34955	0.477;0.277	B;B	0.37731	0.115;0.257	T	0.29579	-1.0007	10	0.14656	T	0.56	.	9.0121	0.36148	0.5555:0.0:0.0:0.4445	.	95;95	P10646-2;P10646	.;TFPI1_HUMAN	A	95	ENSP00000376172:E95A;ENSP00000233156:E95A;ENSP00000397248:E95A;ENSP00000409177:E95A;ENSP00000386344:E95A;ENSP00000342306:E95A;ENSP00000388159:E95A;ENSP00000408170:E95A;ENSP00000394185:E95A	ENSP00000233156:E95A	E	-	2	0	0	TFPI	188069888	188069888	0.000000	0.05858	0.170000	0.22879	0.926000	0.56050	0.101000	0.15251	0.355000	0.24131	0.477000	0.44152	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_006287			77	75		367	356	1		1	1		0	0	96	0		1	1	0	30	0	263	0	77	367
DIRC1	116093	broad.mit.edu	37	2	189599453	189599453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408																																						ENST00000308100.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(193-195)tgC>tgT		disrupted in renal carcinoma 1							157.0	153.0	155.0					2																	189599453		2203	4300	6503	SO:0001819	synonymous_variant	116093	0	0					g.chr2:189599453G>A	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.195C>T	chr2.hg19:g.189599453G>A		1					AC079613.1_ENST00000431708.1_RNA	p.C65C	NM_052952.2	NP_443184.1	1	2	3	2.111737	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)	2	465	-			Q08AK1	Silent	SNP	ENST00000308100.4	1	1	hg19	c.195C>T	CCDS2296.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_052952			170	162		524	511	0		1			0	0	123	0		1	0	0	0	0	0	0	170	524
COL3A1	1281	broad.mit.edu	37	2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	607	Triple-helical region.				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)			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)	TTTTAGGGTCCTCCTGGAAAG	0.433																																						ENST00000304636.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(1819-1821)cCt>cTt		collagen, type III, alpha 1	Collagenase(DB00048)						102.0	105.0	104.0					2																	189862066		2203	4300	6503	SO:0001583	missense	1281	0	0					g.chr2:189862066C>T	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.1820C>T	chr2.hg19:g.189862066C>T	ENSP00000304408:p.Pro607Leu	1					COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	p.P607L	NM_000090.3	NP_000081	1	2	3	2.111737	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	26	1990	+			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	1	1	hg19	c.1820C>T	CCDS2297.1	1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993368	0.19043	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93659	-3.26;-3.26	6.03	4.98	0.66077	6.03	4.98	0.66077	.	0.298232	0.23977	N	0.042719	D	0.87569	0.6210	L	0.35723	1.085	0.19300	N	0.999971	B	0.06786	0.001	B	0.15870	0.014	T	0.68625	-0.5359	10	0.07482	T	0.82	.	12.5333	0.56128	0.0:0.86:0.0:0.14	.	607	P02461	CO3A1_HUMAN	L	607	ENSP00000304408:P607L;ENSP00000315243:P607L	ENSP00000304408:P607L	P	+	2	0	0	COL3A1	189570311	189570311	0.001000	0.12720	0.999000	0.59377	0.440000	0.31957	0.303000	0.19210	2.868000	0.98415	0.555000	0.69702	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.111508	1	0.170000	NM_000090			78	72		373	366	1		1	1		0	0	108	0		1	1	0	2	0	7526	0	78	373
COL3A1	1281	broad.mit.edu	37	2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1123	Triple-helical region.				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)			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)	TTTCCAGGGCCCTGCTGGTCA	0.483																																						ENST00000304636.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(3367-3369)Cct>Tct		collagen, type III, alpha 1	Collagenase(DB00048)						67.0	70.0	69.0					2																	189872614		2203	4300	6503	SO:0001583	missense	1281	0	0					g.chr2:189872614C>T	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.3367C>T	chr2.hg19:g.189872614C>T	ENSP00000304408:p.Pro1123Ser	1					COL3A1_ENST00000317840.5_Intron	p.P1123S	NM_000090.3	NP_000081	1	2	3	2.111737	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	46	3537	+			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	1	1	hg19	c.3367C>T	CCDS2297.1	1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634509	0.14322	.	.	ENSG00000168542	ENST00000304636	D	0.92397	-3.03	5.5	1.43	0.22495	5.5	1.43	0.22495	.	0.499804	0.17163	N	0.184617	D	0.85427	0.5694	L	0.41415	1.275	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.70371	-0.4890	10	0.23302	T	0.38	.	7.5953	0.28044	0.1163:0.3413:0.475:0.0674	.	1123	P02461	CO3A1_HUMAN	S	1123	ENSP00000304408:P1123S	ENSP00000304408:P1123S	P	+	1	0	0	COL3A1	189580859	189580859	0.000000	0.05858	0.969000	0.41365	0.943000	0.58893	-0.751000	0.04803	0.263000	0.21812	0.650000	0.86243	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-5.295904	1	0.170000	NM_000090			112	110		345	341	1		1	0		0	0	70	0		1	1	0	0	0	7497	0	112	345
COL5A2	1290	broad.mit.edu	37	2	189901341	189901341	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						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)			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)			TATTAAATTACCTGAGACCCT	0.328																																						ENST00000374866.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.e52+1		collagen, type V, alpha 2							57.0	54.0	55.0					2																	189901341		2203	4298	6501	SO:0001630	splice_region_variant	1290	0	0					g.chr2:189901341C>T	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.4113+1G>A	chr2.hg19:g.189901341C>T		1							NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	52	4388	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	1	1	hg19		CCDS33350.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832870	0.91036	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	COL5A2	189609586	189609586	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_000393	Intron		48	47		153	151	1		1			0	0	29	0		1	0	0	0	0	0	0	48	153
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1038					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)			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)			CCATTGGAGCCTGGGGGCCCC	0.453																																						ENST00000374866.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(3112-3114)Ggc>Agc		collagen, type V, alpha 2							56.0	54.0	55.0					2																	189914108		2202	4300	6502	SO:0001583	missense	1290	0	0					g.chr2:189914108C>T	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.3112G>A	chr2.hg19:g.189914108C>T	ENSP00000364000:p.Gly1038Ser	1						p.G1038S	NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	44	3386	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	1	1	hg19	c.3112G>A	CCDS33350.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505796	0.85282	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000040	D	0.99829	0.9923	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97011	0.9736	9	.	.	.	.	19.8749	0.96865	0.0:1.0:0.0:0.0	.	678;1038	Q5PR22;P05997	.;CO5A2_HUMAN	S	1038;678	ENSP00000364000:G1038S	.	G	-	1	0	0	COL5A2	189622353	189622353	1.000000	0.71417	0.738000	0.30950	0.718000	0.41266	7.376000	0.79658	2.932000	0.99384	0.644000	0.83932	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_000393			26	26		96	95	1		1	0		0	0	22	0		1	1	0	1	0	1017	0	26	96
COL5A2	1290	broad.mit.edu	37	2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					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)			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)			TCCCTTCTGTCCTGGCTCTCC	0.433																																						ENST00000374866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				95						c.(2599-2601)gGa>gAa		collagen, type V, alpha 2							92.0	84.0	87.0					2																	189917698		2203	4300	6503	SO:0001583	missense	1290	0	0					g.chr2:189917698C>T	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.2600G>A	chr2.hg19:g.189917698C>T	ENSP00000364000:p.Gly867Glu	1						p.G867E	NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	39	2874	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	1	1	hg19	c.2600G>A	CCDS33350.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371237	0.82573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000127	D	0.99775	0.9907	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.97205	0.9867	9	.	.	.	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	507;867	Q5PR22;P05997	.;CO5A2_HUMAN	E	867;507	ENSP00000364000:G867E	.	G	-	2	0	0	COL5A2	189625943	189625943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.770000	0.85390	2.631000	0.89168	0.585000	0.79938	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_000393			30	29		171	171	1		1	0		0	0	45	0		1	1	0	1	0	1343	0	30	171
COL5A2	1290	broad.mit.edu	37	2	189922062	189922062	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	ENST00000374866.3	-	34	2595	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	774					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)			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)			ACCCTTGGGGCCAGGAGTTCC	0.443																																						ENST00000374866.3	1.000000	0.260000	6.800000e-01	3.600000e-01	0.480000	0.533007	0.480000	0.460000																										0				95						c.(2320-2322)gGc>gTc		collagen, type V, alpha 2							57.0	56.0	56.0					2																	189922062		2203	4300	6503	SO:0001583	missense	1290	0	0					g.chr2:189922062C>A	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.2321G>T	chr2.hg19:g.189922062C>A	ENSP00000364000:p.Gly774Val	1						p.G774V	NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	34	2595	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	0	1	hg19	c.2321G>T	CCDS33350.1	0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045916	0.75846	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99186	-5.53	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000077	D	0.99588	0.9851	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98080	1.0403	9	.	.	.	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	414;774	Q5PR22;P05997	.;CO5A2_HUMAN	V	774;414	ENSP00000364000:G774V	.	G	-	2	0	0	COL5A2	189630307	189630307	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-13.338850	1	0.170000	NM_000393			13	14		345	334	0		1	0		0	0	61	0		9.994643e-01	1	0	0	0	1372	0	13	345
COL5A2	1290	broad.mit.edu	37	2	189929383	189929383	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						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)			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)			TTGAGCACCCTGTACCGAGGC	0.478																																						ENST00000374866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				95						c.e25-2		collagen, type V, alpha 2							47.0	50.0	49.0					2																	189929383		2203	4300	6503	SO:0001630	splice_region_variant	1290	0	0					g.chr2:189929383T>G	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.1618-2A>C	chr2.hg19:g.189929383T>G		1							NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	25	1892	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	1	1	hg19		CCDS33350.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663826	0.88251	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0612	0.80839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	COL5A2	189637628	189637628	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.438000	0.80431	2.250000	0.74265	0.477000	0.44152	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_000393	Intron		50	50		328	326	1		1	0		0	0	66	0		1	1.375155e-01	0	0	0	5	0	50	328
COL5A2	1290	broad.mit.edu	37	2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	38					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)			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)			CAGGCTATTTCTTCACCATAT	0.383																																						ENST00000374866.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				95						c.(112-114)Gaa>Taa		collagen, type V, alpha 2							60.0	62.0	61.0					2																	189975161		2203	4300	6503	SO:0001587	stop_gained	1290	0	0					g.chr2:189975161C>A	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.112G>T	chr2.hg19:g.189975161C>A	ENSP00000364000:p.Glu38*	1						p.E38*	NM_000393.3	NP_000384.2	1	2	3	2.111737	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	2	386	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	0	1	hg19	c.112G>T	CCDS33350.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.219777	0.98143	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6133	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	.	E	-	1	0	0	COL5A2	189683406	189683406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.702000	0.92279	0.655000	0.94253	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.087332	1	0.170000	NM_000393			43	43		237	232	1		1	0		0	0	42	0		1	1	0	1	0	1099	0	43	237
SLC40A1	30061	broad.mit.edu	37	2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	469					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284																																						ENST00000261024.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1405-1407)cTt>cCt		solute carrier family 40 (iron-regulated transporter), member 1							25.0	25.0	25.0					2																	190426914		2201	4299	6500	SO:0001583	missense	30061	0	0					g.chr2:190426914A>G	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1406T>C	chr2.hg19:g.190426914A>G	ENSP00000261024:p.Leu469Pro	1						p.L469P	NM_014585.5	NP_055400.1	1	2	3	2.111737	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)	8	1832	-			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	1	1	hg19	c.1406T>C	CCDS2299.1	1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920082	0.73098	.	.	ENSG00000138449	ENST00000261024	D	0.97016	-4.21	5.92	4.77	0.60923	5.92	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.053633	0.85682	N	0.000000	D	0.98049	0.9357	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98278	1.0507	10	0.87932	D	0	-12.7045	11.7231	0.51693	0.9315:0.0:0.0685:0.0	.	469	Q9NP59	S40A1_HUMAN	P	469	ENSP00000261024:L469P	ENSP00000261024:L469P	L	-	2	0	0	SLC40A1	190135159	190135159	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.339000	0.96797	1.078000	0.41014	0.477000	0.44152	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2	1	0	1		2	2	2	0		0	0	22		22	23	1	2.060000	-20.000000	1	0.170000				41	40		121	120	0		1	1		0	0	22	0		1	1	0	634	0	801	0	41	121
ASNSD1	54529	broad.mit.edu	37	2	190531602	190531602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	248					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383																																						ENST00000260952.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(742-744)ttG>ttA		asparagine synthetase domain containing 1							86.0	91.0	90.0					2																	190531602		2202	4298	6500	SO:0001819	synonymous_variant	54529	0	0					g.chr2:190531602G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.744G>A	chr2.hg19:g.190531602G>A		1					ASNSD1_ENST00000607062.1_Intron	p.L248L	NM_019048.2	NP_061921	1	2	3	2.111737	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)	4	1157	+			D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	1	1	hg19	c.744G>A	CCDS2300.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-3.326949	1	0.170000	NM_019048			102	103		511	501	1		1	1		0	0	102	0		1	1	0	29	0	128	0	102	511
ANKAR	150709	broad.mit.edu	37	2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	964						integral component of membrane (GO:0016021)				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)			ATTTCAAATAGATGTTAAGGA	0.284																																						ENST00000520309.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2890-2892)Gat>Aat		ankyrin and armadillo repeat containing							41.0	42.0	42.0					2																	190593005		2203	4300	6503	SO:0001583	missense	150709	0	0					g.chr2:190593005G>A	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.2890G>A	chr2.hg19:g.190593005G>A	ENSP00000427882:p.Asp964Asn	1					ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N	p.D964N	NM_144708.3	NP_653309.3	1	2	3	2.111737	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)	14	2978	+			Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	1	1	hg19	c.2890G>A	CCDS33351.2	1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810057	0.32053	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.87	3.95	0.45737	4.87	3.95	0.45737	.	0.323646	0.23347	N	0.049164	T	0.24967	0.0606	L	0.44542	1.39	0.33538	D	0.594462	B	0.13145	0.007	B	0.16289	0.015	T	0.28332	-1.0047	10	0.66056	D	0.02	-26.6452	8.5771	0.33605	0.0923:0.1685:0.7392:0.0	.	40	E9PHS9	.	N	964;964;964;893;739;40	ENSP00000427882:D964N;ENSP00000313513:D964N;ENSP00000397243:D964N;ENSP00000393043:D893N;ENSP00000281412:D739N	ENSP00000281412:D739N	D	+	1	0	0	ANKAR	190301250	190301250	0.460000	0.25776	1.000000	0.80357	0.763000	0.43281	0.868000	0.27982	2.510000	0.84645	0.467000	0.42956	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_144708			57	57		168	161	1		1	1		0	0	22	0		1	8.073817e-01	0	4	0	7	0	57	168
PMS1	5378	broad.mit.edu	37	2	190728551	190728551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000409823.3_Silent_p.L608L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	647					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)			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)			ACAAATGTCACTAAAAGATGG	0.358			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Hereditary non-polyposis colorectal cancer	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	2q31-q33	5378	Mis, N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian			0				36						c.(1939-1941)Cta>Tta	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							113.0	123.0	119.0					2																	190728551		2203	4300	6503	SO:0001819	synonymous_variant	5378	0	0					g.chr2:190728551C>T		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.1939C>T	chr2.hg19:g.190728551C>T		1					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000432292.3_Silent_p.L471L	p.L647L	NM_000534.4	NP_000525.1	1	2	3	2.111737	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)	10	2172	+			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	1	1	hg19	c.1939C>T	CCDS2302.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000				150	147		461	450	1		1	1		0	0	111	0		1	9.966406e-01	0	14	0	15	0	150	461
PMS1	5378	broad.mit.edu	37	2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	rs147566508	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	919					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)			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)			GTTCATGGTCGCCCATTTTTT	0.328			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					G|||	3	0.000599042	0.0023	0.0	5008	,	,		18981	0.0		0.0	False		,,,				2504	0.0					ENST00000441310.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Hereditary non-polyposis colorectal cancer	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	2q31-q33	5378	Mis, N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian			0				36						c.(2755-2757)cGc>cAc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	112.0	113.0		2756,2639,2270	5.8	1.0	2	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	919/933,880/894,757/771	190742119	2,13004	2203	4300	6503	SO:0001583	missense	5378	1	121412	41				g.chr2:190742119G>A		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.2756G>A	chr2.hg19:g.190742119G>A	ENSP00000406490:p.Arg919His	1					PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H	p.R919H	NM_000534.4	NP_000525.1	1	2	3	2.111737	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)	13	2989	+			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	1	1	hg19	c.2756G>A	CCDS2302.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.78	3.472864	0.63737	4.54E-4	0.0	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97752	-2.89;-2.69;-3.08;-3.29;-2.69;-4.52	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.101764	0.64402	D	0.000001	D	0.96568	0.8880	L	0.47190	1.495	0.45216	D	0.998228	B;D;D;D;D	0.57257	0.066;0.977;0.979;0.978;0.963	B;P;B;B;B	0.48654	0.01;0.585;0.363;0.299;0.363	D	0.96294	0.9216	10	0.87932	D	0	-6.5663	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	235;542;880;757;919	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	H	919;743;880;757;743;542	ENSP00000406490:R919H;ENSP00000404492:R743H;ENSP00000387125:R880H;ENSP00000401064:R757H;ENSP00000398378:R743H;ENSP00000387169:R542H	ENSP00000387169:R542H	R	+	2	0	0	PMS1	190450364	190450364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.657000	0.67996	2.882000	0.98803	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000				59	57		171	170	1		1	1		0	0	43	0		1	9.998606e-01	0	12	0	30	0	59	171
MSTN	2660	broad.mit.edu	37	2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	199					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408																																						ENST00000260950.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(595-597)Ggc>Tgc		myostatin							210.0	195.0	200.0					2																	190924940		2203	4300	6503	SO:0001583	missense	2660	0	0					g.chr2:190924940C>A	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.595G>T	chr2.hg19:g.190924940C>A	ENSP00000260950:p.Gly199Cys	1					C2orf88_ENST00000478197.1_Intron	p.G199C	NM_005259.2	NP_005250.1	1	2	3	2.111737	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)	2	727	-			A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	1	1	hg19	c.595G>T	CCDS2303.1	1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846205	0.71603	.	.	ENSG00000138379	ENST00000260950	T	0.71817	-0.6	5.76	4.83	0.62350	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	1.956010	0.03705	U	0.249212	D	0.86121	0.5857	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73959	-0.3818	10	0.87932	D	0	-9.579	16.2783	0.82656	0.0:0.8676:0.1324:0.0	.	199	O14793	GDF8_HUMAN	C	199	ENSP00000260950:G199C	ENSP00000260950:G199C	G	-	1	0	0	MSTN	190633185	190633185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.668000	0.46816	2.718000	0.92993	0.650000	0.86243	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-20.000000	1	0.170000	NM_005259			143	143		657	642	1		1	0		0	0	130	0		1	0	0	0	0	1	0	143	657
C2orf88	84281	broad.mit.edu	37	2	191064772	191064772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000409870.1_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000396974.2_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	62	PKA-RI-binding.					plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468																																						ENST00000340623.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(184-186)gcA>gcG		chromosome 2 open reading frame 88							196.0	197.0	197.0					2																	191064772		2001	4168	6169	SO:0001819	synonymous_variant	84281	0	0					g.chr2:191064772A>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.186A>G	chr2.hg19:g.191064772A>G		1					C2orf88_ENST00000409870.1_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000396974.2_Silent_p.A62A	p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	1	2	3	2.111737	Q9BSF0	SMAKA_HUMAN		2	597	+			D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	1	1	hg19	c.186A>G	CCDS42792.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	1	0	1		2	2	2	0		0	0	166		166	166	1	2.060000	-20.000000	1	0.170000	NM_032321			149	147		818	805	1		1	1		0	0	166	0		1	1	0	30	0	224	0	149	818
INPP1	3628	broad.mit.edu	37	2	191224927	191224927	+	Silent	SNP	C	C	T	rs2067404	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191224927C>T	ENST00000322522.4	+	2	555	c.99C>T	c.(97-99)atC>atT	p.I33I	INPP1_ENST00000541441.1_Silent_p.I33I|INPP1_ENST00000417336.1_3'UTR|INPP1_ENST00000392329.2_Silent_p.I33I	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	33					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AGCTGCTGATCGAAGAAAAGA	0.478													C|||	79	0.0157748	0.0008	0.0317	5008	,	,		19548	0.0506		0.0	False		,,,				2504	0.0051				Melanoma(130;184 1743 2185 19805 38428)	ENST00000322522.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(97-99)atC>atT		inositol polyphosphate-1-phosphatase		C	,	6,4400	11.4+/-27.6	0,6,2197	66.0	73.0	71.0		99,99	-5.9	0.8	2	dbSNP_96	71	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	INPP1	NM_001128928.1,NM_002194.3	,	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	,	33/400,33/400	191224927	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3628	1050	121412	60				g.chr2:191224927C>T		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.99C>T	chr2.hg19:g.191224927C>T		1					INPP1_ENST00000392329.2_Silent_p.I33I|INPP1_ENST00000541441.1_Silent_p.I33I|INPP1_ENST00000417336.1_3'UTR	p.I33I	NM_002194.3	NP_002185.1	1	2	3	2.111737	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)	2	555	+				Silent	SNP	ENST00000322522.4	1	0	hg19	c.99C>T	CCDS2305.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-4.246681	1	0.170000				46	46		268	263	1		1	1		0	0	59	0		1	1	0	105	0	212	0	46	268
MFSD6	54842	broad.mit.edu	37	2	191301736	191301736	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	327					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532																																						ENST00000392328.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(979-981)caG>caA		major facilitator superfamily domain containing 6							108.0	108.0	108.0					2																	191301736		2203	4300	6503	SO:0001819	synonymous_variant	54842	0	0					g.chr2:191301736G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.981G>A	chr2.hg19:g.191301736G>A		1					MFSD6_ENST00000281416.7_Silent_p.Q327Q	p.Q327Q	NM_017694.3	NP_060164.3	1	2	3	2.111737	Q6ZSS7	MFSD6_HUMAN		3	1305	+			D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	1	1	hg19	c.981G>A	CCDS2306.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000				209	207		577	569	1		1	1		0	0	136	0		1	1	0	51	0	91	0	209	577
GLS	2744	broad.mit.edu	37	2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	307					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353																																						ENST00000320717.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(919-921)cGa>cAa		glutaminase	L-Glutamine(DB00130)						134.0	132.0	133.0					2																	191769834		2203	4300	6503	SO:0001583	missense	2744	0	0					g.chr2:191769834G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.920G>A	chr2.hg19:g.191769834G>A	ENSP00000317379:p.Arg307Gln	1					GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	p.R307Q	NM_014905.4	NP_055720.3	1	2	3	2.111737	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)	6	1178	+			Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	1	1	hg19	c.920G>A	CCDS2308.1	1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490238	0.64074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.03115	-0.41	0.80722	D	1	B;B	0.29531	0.046;0.247	B;B	0.14578	0.01;0.011	T	0.19224	-1.0312	10	0.06494	T	0.89	-9.0891	20.3429	0.98773	0.0:0.0:1.0:0.0	.	307;307	O94925;O94925-3	GLSK_HUMAN;.	Q	307	ENSP00000317379:R307Q;ENSP00000340689:R307Q	ENSP00000317379:R307Q	R	+	2	0	0	GLS	191478079	191478079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.881000	0.98747	0.650000	0.86243	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				53	52		239	235	1		1	1		0	0	46	0		1	1	0	14	0	185	0	53	239
STAT1	6772	broad.mit.edu	37	2	191840588	191840588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000361099.3	-	23	2472	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_ENST00000392322.3_Silent_p.G695G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	695					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTCCTTTAGGGCCATCAAGTT	0.423																																						ENST00000361099.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2083-2085)ggC>ggT		signal transducer and activator of transcription 1, 91kDa							119.0	104.0	109.0					2																	191840588		2203	4300	6503	SO:0001819	synonymous_variant	6772	0	0					g.chr2:191840588G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2085C>T	chr2.hg19:g.191840588G>A		1					STAT1_ENST00000392322.3_Silent_p.G695G|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.G697G	p.G695G	NM_007315.3	NP_009330.1	1	2	3	2.111737	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)	23	2472	-			A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	1	1	hg19	c.2085C>T	CCDS2309.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_007315			51	50		162	159	1		1	1		0	0	36	0		1	1	0	484	0	1854	0	51	162
STAT1	6772	broad.mit.edu	37	2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000361099.3	-	15	1631	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_ENST00000392322.3_Missense_Mutation_p.A415D|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	415					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCTGGTGCCAGCATTTTTCTG	0.413																																						ENST00000361099.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1243-1245)gCt>gAt		signal transducer and activator of transcription 1, 91kDa							167.0	150.0	156.0					2																	191850364		2203	4300	6503	SO:0001583	missense	6772	0	0					g.chr2:191850364G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1244C>A	chr2.hg19:g.191850364G>T	ENSP00000354394:p.Ala415Asp	1					STAT1_ENST00000392322.3_Missense_Mutation_p.A415D|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D	p.A415D	NM_007315.3	NP_009330.1	1	2	3	2.111737	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)	15	1631	-			A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	1	1	hg19	c.1244C>A	CCDS2309.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.11	5.11	0.69529	5.11	5.11	0.69529	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.054833	0.64402	D	0.000001	D	0.89722	0.6797	M	0.69248	2.105	0.80722	D	1	P;P	0.44734	0.842;0.622	P;B	0.51615	0.675;0.222	D	0.90598	0.4542	10	0.87932	D	0	-18.3653	12.9372	0.58322	0.0792:0.0:0.9208:0.0	.	415;415	P42224-2;P42224	.;STAT1_HUMAN	D	415;415;415;417	ENSP00000354394:A415D;ENSP00000386244:A415D;ENSP00000376136:A415D;ENSP00000376137:A417D	ENSP00000354394:A415D	A	-	2	0	0	STAT1	191558609	191558609	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	6.286000	0.72665	2.535000	0.85469	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-4.902628	1	0.170000	NM_007315			74	73		221	214	1		1	1		0	0	42	0		1	1	0	347	0	1197	0	74	221
STAT4	6775	broad.mit.edu	37	2	191905836	191905836	+	Silent	SNP	C	C	T	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	430					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)			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)			GTGTTTCAAACGTTATGGAAT	0.383																																						ENST00000392320.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1288-1290)acG>acA		signal transducer and activator of transcription 4		T		3,4403	6.2+/-15.9	0,3,2200	136.0	128.0	131.0		1290	0.9	1.0	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	STAT4	NM_003151.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		430/749	191905836	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6775	4	121410	42				g.chr2:191905836C>T		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.1290G>A	chr2.hg19:g.191905836C>T		1					STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	p.T430T	NM_003151.3	NP_003142.1	1	2	3	2.111737	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)	15	1604	-			Q96NZ6	Silent	SNP	ENST00000392320.2	1	1	hg19	c.1290G>A	CCDS2310.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_003151			125	122		409	404	1		1	1		0	0	85	0		1	8.425962e-01	0	2	0	11	0	125	409
MYO1B	4430	broad.mit.edu	37	2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	193	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)			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)			TTAGAGAAATCTCGGGTTGTT	0.388																																						ENST00000392318.3	1.000000	0.540000	8.600000e-01	6.200000e-01	0.720000	0.743616	0.720000	0.700000																										0				55						c.(577-579)tCt>tAt		myosin IB							181.0	188.0	186.0					2																	192225372		2203	4300	6503	SO:0001583	missense	4430	0	0					g.chr2:192225372C>A	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.578C>A	chr2.hg19:g.192225372C>A	ENSP00000376132:p.Ser193Tyr	1					MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y	p.S193Y	NM_001130158.1	NP_001123630.1	1	2	3	2.111737	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)	8	825	+			O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	1	1	hg19	c.578C>A	CCDS46477.1	0	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712950	0.89112	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.71	5.71	0.89125	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98855	1.0760	10	0.87932	D	0	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	193;193	O43795;O43795-2	MYO1B_HUMAN;.	Y	193	ENSP00000341903:S193Y;ENSP00000376132:S193Y;ENSP00000306382:S193Y;ENSP00000388140:S193Y;ENSP00000376130:S193Y	ENSP00000306382:S193Y	S	+	2	0	0	MYO1B	191933617	191933617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.073000	0.76784	2.681000	0.91329	0.655000	0.94253	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	1	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-7.955782	1	0.170000	NM_012223			54	52		909	879	0		1	0		0	0	164	0		1	9.881792e-01	0	0	0	116	0	54	909
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	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.R367*(2)		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)			GTTGGTAAATCGAATCAATGA	0.318																																						ENST00000392318.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.991607	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R367*(2)	large_intestine(2)	55						c.(1099-1101)Cga>Tga		myosin IB							73.0	73.0	73.0					2																	192234334		2203	4300	6503	SO:0001587	stop_gained	4430	0	0					g.chr2:192234334C>T	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.1099C>T	chr2.hg19:g.192234334C>T	ENSP00000376132:p.Arg367*	1					MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*	p.R367*	NM_001130158.1	NP_001123630.1	1	2	3	2.111737	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)	12	1346	+			O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	0	1	hg19	c.1099C>T	CCDS46477.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	2	MYO1B	191942579	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.221883	1	0.170000	NM_012223			39	37		374	367	1		1	0		0	0	57	0		1	9.998149e-01	0	0	0	125	0	39	374
MYO1B	4430	broad.mit.edu	37	2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	844	IQ 6. {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)			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)			TTGCTGTCATTTGGGCTTACT	0.448																																						ENST00000392318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2530-2532)atT>atG		myosin IB							174.0	140.0	151.0					2																	192267420		1568	3582	5150	SO:0001583	missense	4430	0	0					g.chr2:192267420T>G	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.2532T>G	chr2.hg19:g.192267420T>G	ENSP00000376132:p.Ile844Met	1					MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron	p.I844M	NM_001130158.1	NP_001123630.1	1	2	3	2.111737	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)	24	2779	+			O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	1	1	hg19	c.2532T>G	CCDS46477.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314215	0.81358	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.88354	-2.37;-2.37;-1.28;-1.28	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.54753	D	0.999982	D;D	0.59357	0.985;0.98	P;D	0.66979	0.724;0.948	D	0.90115	0.4195	10	0.56958	D	0.05	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	89;844	E7EPB4;O43795	.;MYO1B_HUMAN	M	844;844;815;89	ENSP00000376132:I844M;ENSP00000306382:I844M;ENSP00000376130:I815M;ENSP00000391442:I89M	ENSP00000306382:I844M	I	+	3	3	3	MYO1B	191975665	191975665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.180000	0.69256	0.459000	0.35465	ATT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_012223			51	52		116	112	1		1	1		0	0	24	0		1	9.999807e-01	0	2	0	40	0	51	116
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					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)			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)		CTCAAACACTCCAGACTGCTC	0.512																																						ENST00000399161.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(982-984)Gag>Tag		myelin transcription factor 1-like							88.0	94.0	92.0					2																	1926559		2148	4253	6401	SO:0001587	stop_gained	23040	0	0					g.chr2:1926559C>A	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.982G>T	chr2.hg19:g.1926559C>A	ENSP00000382114:p.Glu328*	1					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	p.E328*	NM_015025.2	NP_055840.2	1	2	3	2.183349	Q9UL68	MYT1L_HUMAN		10	1729	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	0	1	hg19	c.982G>T		1	.	.	.	.	.	.	.	.	.	.	C	44	10.777064	0.99466	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	4.88	0.63580	5.75	4.88	0.63580	.	0.056711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.0681	14.6267	0.68626	0.0:0.9303:0.0:0.0697	.	.	.	.	X	328;276;328	.	ENSP00000295067:E276X	E	-	1	0	0	MYT1L	1905566	1905566	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	7.685000	0.84117	1.442000	0.47568	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_015025			116	113		330	310	0		1			0	0	70	0		1	0	0	0	0	0	0	116	330
MYT1L	23040	broad.mit.edu	37	2	1926671	1926671	+	Silent	SNP	C	C	T	rs369668763		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	290					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)			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)		TGTCTTGCTGCGACATGCTGT	0.453																																						ENST00000399161.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(868-870)tcG>tcA		myelin transcription factor 1-like		C		2,4142		0,2,2070	195.0	196.0	196.0		870	-12.1	0.0	2		196	1,8439		0,1,4219	no	coding-synonymous	MYT1L	NM_015025.2		0,3,6289	TT,TC,CC		0.0118,0.0483,0.0238		290/1185	1926671	3,12581	2072	4220	6292	SO:0001819	synonymous_variant	23040	6	121032	42				g.chr2:1926671C>T	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.870G>A	chr2.hg19:g.1926671C>T		1					MYT1L_ENST00000428368.2_Silent_p.S290S	p.S290S	NM_015025.2	NP_055840.2	1	2	3	2.183349	Q9UL68	MYT1L_HUMAN		10	1617	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	1	1	hg19	c.870G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	NM_015025			136	134		870	855	1		1			0	0	156	0		1	0	0	0	0	0	0	136	870
MYO1B	4430	broad.mit.edu	37	2	192288586	192288586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192288586A>G	ENST00000392318.3	+	31	3558	c.3311A>G	c.(3310-3312)gAc>gGc	p.D1104G	MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104	Myosin tail. {ECO:0000255}.				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)			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)			TTCAGACAGGACAAAGTATGT	0.358																																						ENST00000392318.3	1.000000	0.160000	4.100000e-01	2.200000e-01	0.300000	0.363658	0.300000	0.290000																										0				55						c.(3310-3312)gAc>gGc		myosin IB							110.0	111.0	111.0					2																	192288586		2203	4300	6503	SO:0001583	missense	4430	0	0					g.chr2:192288586A>G	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.3311A>G	chr2.hg19:g.192288586A>G	ENSP00000376132:p.Asp1104Gly	1					MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G	p.D1104G	NM_001130158.1	NP_001123630.1	1	2	3	2.111737	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)	31	3558	+			O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	0	1	hg19	c.3311A>G	CCDS46477.1	0	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225845	0.39300	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.78	5.78	0.91487	5.78	5.78	0.91487	Myosin tail 2 (1);	0.048029	0.85682	D	0.000000	T	0.29093	0.0723	N	0.16166	0.38	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.006;0.003	D;B;B	0.91635	0.999;0.012;0.007	T	0.05784	-1.0864	10	0.02654	T	1	.	14.6915	0.69091	1.0:0.0:0.0:0.0	.	349;1104;1046	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	G	1046;1104;1104;1075;349	ENSP00000341903:D1046G;ENSP00000376132:D1104G;ENSP00000306382:D1104G;ENSP00000376130:D1075G;ENSP00000391442:D349G	ENSP00000306382:D1104G	D	+	2	0	0	MYO1B	191996831	191996831	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.458000	0.90364	2.205000	0.71048	0.533000	0.62120	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-2.951106	1	0.170000	NM_012223			15	15		651	635	0		1	1		0	0	98	0		9.998460e-01	9.563735e-01	0	3	0	227	0	15	651
SDPR	8436	broad.mit.edu	37	2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCCTGGTACTTGGAGAGCTTG	0.597																																						ENST00000304141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(304-306)Aag>Gag		serum deprivation response							97.0	84.0	89.0					2																	192711348		2203	4300	6503	SO:0001583	missense	8436	0	0					g.chr2:192711348T>C	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.304A>G	chr2.hg19:g.192711348T>C	ENSP00000305675:p.Lys102Glu	1					AC098617.1_ENST00000424116.2_RNA	p.K102E	NM_004657.5	NP_004648.1	1	2	3	2.111737			OV - Ovarian serous cystadenocarcinoma(117;0.0647)	1	633	-				Missense_Mutation	SNP	ENST00000304141.4	1	1	hg19	c.304A>G	CCDS2313.1	1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188182	0.57909	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	4.62	3.46	0.39613	4.62	3.46	0.39613	.	0.135593	0.48767	N	0.000174	T	0.62816	0.2459	M	0.77313	2.365	0.42605	D	0.993296	P	0.38827	0.649	B	0.41510	0.359	T	0.65043	-0.6264	10	0.72032	D	0.01	-26.7125	7.3259	0.26555	0.0:0.0811:0.1555:0.7634	.	102	O95810	SDPR_HUMAN	E	102	ENSP00000305675:K102E	ENSP00000305675:K102E	K	-	1	0	0	SDPR	192419593	192419593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.051000	0.57412	0.904000	0.36572	0.397000	0.26171	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_004657			46	44		234	228	1		1	0		0	0	45	0		1	9.983281e-01	0	0	0	52	0	46	234
OSR1	130497	broad.mit.edu	37	2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000272223.2	-	2	889	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567																																						ENST00000272223.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.989072	0.990000	1.000000																										0				8						c.(544-546)cGc>cAc		odd-skipped related transciption factor 1							122.0	116.0	118.0					2																	19553022		2203	4300	6503	SO:0001583	missense	130497	0	0					g.chr2:19553022C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.545G>A	chr2.hg19:g.19553022C>T	ENSP00000272223:p.Arg182His	1					OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	p.R182H	NM_145260.2	NP_660303.1	1	2	3	2.183349	Q8TAX0	OSR1_HUMAN		2	889	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	1	1	hg19	c.545G>A	CCDS1694.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914406	0.92178	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.03920	3.76;3.76	5.68	4.79	0.61399	5.68	4.79	0.61399	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	0.19725	0.0474	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00051	-1.2195	9	.	.	.	-30.0324	13.7771	0.63059	0.0:0.9258:0.0:0.0742	.	182	Q8TAX0	OSR1_HUMAN	H	182	ENSP00000272223:R182H;ENSP00000441801:R182H	.	R	-	2	0	0	OSR1	19416503	19416503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.685000	0.91497	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	1	0	1		2	2	2	0		0	0	96		96	92	1	2.060000	-1.976371	0	0.170000	NM_145260			61	60		632	611	0		1	0		0	0	96	0		1	9.418253e-02	0	0	0	6	0	61	632
SDPR	8436	broad.mit.edu	37	2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTCCTGCACAGCGTCTAGCAT	0.567																																						ENST00000304141.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(211-213)gCt>gAt		serum deprivation response							115.0	93.0	101.0					2																	192711440		2203	4300	6503	SO:0001583	missense	8436	0	0					g.chr2:192711440G>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.212C>A	chr2.hg19:g.192711440G>T	ENSP00000305675:p.Ala71Asp	1					AC098617.1_ENST00000424116.2_RNA	p.A71D	NM_004657.5	NP_004648.1	1	2	3	2.111737			OV - Ovarian serous cystadenocarcinoma(117;0.0647)	1	541	-				Missense_Mutation	SNP	ENST00000304141.4	1	1	hg19	c.212C>A	CCDS2313.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013014	0.35511	.	.	ENSG00000168497	ENST00000304141	T	0.59772	0.24	4.62	2.81	0.32909	4.62	2.81	0.32909	.	0.896645	0.09759	N	0.759491	T	0.53158	0.1779	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.36766	0.232	T	0.40646	-0.9552	10	0.49607	T	0.09	-2.8248	10.7159	0.46013	0.1554:0.0:0.8446:0.0	.	71	O95810	SDPR_HUMAN	D	71	ENSP00000305675:A71D	ENSP00000305675:A71D	A	-	2	0	0	SDPR	192419685	192419685	0.276000	0.24211	0.431000	0.26735	0.965000	0.64279	3.132000	0.50523	0.674000	0.31244	0.484000	0.47621	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_004657			82	81		253	246	1		1	0		0	0	50	0		1	9.999986e-01	0	0	0	64	0	82	253
DNAH7	56171	broad.mit.edu	37	2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2013	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)			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						CTGAGTTTGAGCTGCTGTAGT	0.323																																						ENST00000312428.6	1.000000	0.730000	1	8.600000e-01	0.990000	0.952461	0.990000	1.000000																										0				205						c.(6037-6039)gCt>gAt		dynein, axonemal, heavy chain 7							155.0	139.0	144.0					2																	196741347		1834	4083	5917	SO:0001583	missense	56171	0	0					g.chr2:196741347G>T	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.6038C>A	chr2.hg19:g.196741347G>T	ENSP00000311273:p.Ala2013Asp	1						p.A2013D	NM_018897.2	NP_061720.2	1	2	3	2.111737	Q8WXX0	DYH7_HUMAN		37	6138	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	1	1	hg19	c.6038C>A	CCDS42794.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298407	0.60195	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	5.55	5.55	0.83447	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.055211	0.64402	D	0.000001	T	0.50411	0.1614	L	0.58510	1.815	0.80722	D	1	B	0.29270	0.24	B	0.39771	0.309	T	0.40720	-0.9548	10	0.36615	T	0.2	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	2013	Q8WXX0	DYH7_HUMAN	D	2013	ENSP00000311273:A2013D	ENSP00000311273:A2013D	A	-	2	0	0	DNAH7	196449592	196449592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.890000	0.99128	0.585000	0.79938	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.318794	1	0.170000	NM_018897			38	37		440	435	0		1	0		0	0	65	0		1	0	0	0	0	1	0	38	440
DNAH7	56171	broad.mit.edu	37	2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	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)			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						TTTCCCAGTTCCTGTTGGTCC	0.368																																						ENST00000312428.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				205						c.(5935-5937)gGa>gAa		dynein, axonemal, heavy chain 7							158.0	144.0	148.0					2																	196746544		1839	4087	5926	SO:0001583	missense	56171	0	0					g.chr2:196746544C>T	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.5936G>A	chr2.hg19:g.196746544C>T	ENSP00000311273:p.Gly1979Glu	1						p.G1979E	NM_018897.2	NP_061720.2	1	2	3	2.111737	Q8WXX0	DYH7_HUMAN		36	6036	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	1	1	hg19	c.5936G>A	CCDS42794.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506106	0.85282	.	.	ENSG00000118997	ENST00000312428	D	0.90620	-2.7	5.1	5.1	0.69264	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98479	1.0604	10	0.87932	D	0	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1979	Q8WXX0	DYH7_HUMAN	E	1979	ENSP00000311273:G1979E	ENSP00000311273:G1979E	G	-	2	0	0	DNAH7	196454789	196454789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.237000	0.78164	2.665000	0.90641	0.585000	0.79938	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_018897			85	82		505	494	1		1	0		0	0	108	0		1	0	0	0	0	1	0	85	505
DNAH7	56171	broad.mit.edu	37	2	196746672	196746672	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1936					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)			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						GAATTGGAGGAGCTTCTTTCA	0.333																																						ENST00000312428.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				205						c.(5806-5808)gcT>gcC		dynein, axonemal, heavy chain 7							119.0	111.0	114.0					2																	196746672		1829	4077	5906	SO:0001819	synonymous_variant	56171	0	0					g.chr2:196746672A>G	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.5808T>C	chr2.hg19:g.196746672A>G		1						p.A1936A	NM_018897.2	NP_061720.2	1	2	3	2.111737	Q8WXX0	DYH7_HUMAN		36	5908	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	0	1	hg19	c.5808T>C	CCDS42794.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	1		20	2	2	1		1	1	53		53	53	1	2.060000	-19.172830	1	0.170000	NM_018897			44	43		288	286	1		1			1	0	53	0		9.994696e-01	0	0	0	0	0	0	44	288
DNAH7	56171	broad.mit.edu	37	2	196788367	196788367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1259	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)			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						CAGAGTCATCGCTAATATTTT	0.403																																						ENST00000312428.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				205						c.(3775-3777)agC>agT		dynein, axonemal, heavy chain 7							99.0	92.0	94.0					2																	196788367		1910	4143	6053	SO:0001819	synonymous_variant	56171	2	120860	36				g.chr2:196788367G>A	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.3777C>T	chr2.hg19:g.196788367G>A		1						p.S1259S	NM_018897.2	NP_061720.2	1	2	3	2.111737	Q8WXX0	DYH7_HUMAN		23	3877	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	1	1	hg19	c.3777C>T	CCDS42794.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-19.999980	1	0.170000	NM_018897			51	51		277	274	1		1			0	0	74	0		1	0	0	0	0	0	0	51	277
HECW2	57520	broad.mit.edu	37	2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.3	-	15	3265	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1028	Interaction with TP73.				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)			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						ATGAACCAGCGCACTTGTGGG	0.537																																						ENST00000260983.3	1.000000	0.380000	8.500000e-01	5.000000e-01	0.640000	0.671633	0.640000	0.610000																										0				113						c.(3082-3084)gCg>gTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							155.0	127.0	136.0					2																	197143304		2203	4300	6503	SO:0001583	missense	57520	2	121412	30				g.chr2:197143304G>A	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.3083C>T	chr2.hg19:g.197143304G>A	ENSP00000260983:p.Ala1028Val	1					HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	p.A1028V	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		15	3265	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.3083C>T	CCDS33354.1	0	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320375	0.23994	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84298	-1.83;-1.83	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.129557	0.53938	D	0.000045	T	0.68943	0.3056	N	0.14661	0.345	0.42479	D	0.992858	P	0.43938	0.822	B	0.30716	0.119	T	0.71922	-0.4446	10	0.28530	T	0.3	.	13.9925	0.64376	0.0:0.0:0.8487:0.1513	.	1028	Q9P2P5	HECW2_HUMAN	V	672;1028	ENSP00000386775:A672V;ENSP00000260983:A1028V	ENSP00000260983:A1028V	A	-	2	0	0	HECW2	196851549	196851549	1.000000	0.71417	0.565000	0.28409	0.083000	0.17756	5.769000	0.68865	2.745000	0.94114	0.655000	0.94253	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-4.761495	1	0.170000	NM_020760			18	18		352	345	0		1	0		0	0	79	0		9.999803e-01	1.078672e-01	0	0	0	11	0	18	352
HECW2	57520	broad.mit.edu	37	2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.3	-	14	3054	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	HECW2_ENST00000409111.1_Missense_Mutation_p.R602W|RN7SL820P_ENST00000583941.1_RNA	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	958	Interaction with TP73.				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)			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						GTGTCCCTCCGGACTTTGGTG	0.493																																						ENST00000260983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(2872-2874)Cgg>Tgg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							129.0	103.0	112.0					2																	197157417		2203	4300	6503	SO:0001583	missense	57520	1	121412	30				g.chr2:197157417G>A	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.2872C>T	chr2.hg19:g.197157417G>A	ENSP00000260983:p.Arg958Trp	1					RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	p.R958W	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		14	3054	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.2872C>T	CCDS33354.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771237	0.90108	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85339	-1.97;-1.97	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91818	0.5465	10	0.87932	D	0	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	958	Q9P2P5	HECW2_HUMAN	W	602;958	ENSP00000386775:R602W;ENSP00000260983:R958W	ENSP00000260983:R958W	R	-	1	2	2	HECW2	196865662	196865662	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.238000	0.95380	2.617000	0.88574	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-2.947956	1	0.170000	NM_020760			50	49		255	251	1		1	0		0	0	48	0		1	3.286817e-01	0	0	0	7	0	50	255
HECW2	57520	broad.mit.edu	37	2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.3	-	9	2029	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	616					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)			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						AGGATCACTGGGTTCTGTTTC	0.587																																						ENST00000260983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(1846-1848)cCc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							61.0	52.0	55.0					2																	197183767		2203	4300	6503	SO:0001583	missense	57520	0	0					g.chr2:197183767G>T	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.1847C>A	chr2.hg19:g.197183767G>T	ENSP00000260983:p.Pro616His	1					HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	p.P616H	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		9	2029	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.1847C>A	CCDS33354.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516234	0.44763	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.4	5.4	0.78164	5.4	5.4	0.78164	.	1.163250	0.06052	N	0.656663	T	0.27798	0.0684	N	0.14661	0.345	0.39650	D	0.970454	D	0.52996	0.957	P	0.45998	0.5	T	0.04767	-1.0928	10	0.38643	T	0.18	.	13.4478	0.61151	0.0:0.0:0.8336:0.1664	.	616	Q9P2P5	HECW2_HUMAN	H	260;616	ENSP00000386775:P260H;ENSP00000260983:P616H	ENSP00000260983:P616H	P	-	2	0	0	HECW2	196892012	196892012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.361000	0.52306	2.813000	0.96785	0.561000	0.74099	CCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_020760			63	60		140	138	1		1	0		0	0	38	0		1	8.962761e-01	0	0	0	11	0	63	140
HECW2	57520	broad.mit.edu	37	2	197184558	197184558	+	Silent	SNP	G	G	A	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.3	-	9	1238	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	352					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)			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						CCTCGTCATCGGAAGGGCTAC	0.493																																						ENST00000260983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(1054-1056)tcC>tcT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							79.0	69.0	72.0					2																	197184558		2203	4300	6503	SO:0001819	synonymous_variant	57520	1	121412	40				g.chr2:197184558G>A	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.1056C>T	chr2.hg19:g.197184558G>A		1					HECW2_ENST00000409111.1_5'UTR	p.S352S	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		9	1238	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	1	1	hg19	c.1056C>T	CCDS33354.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.847558	1	0.170000	NM_020760			56	55		274	270	1		1	0		0	0	55	0		1	4.100271e-01	0	0	0	8	0	56	274
HECW2	57520	broad.mit.edu	37	2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	64					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)			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						CTCGTACATGCTGGCAGTTAA	0.547																																						ENST00000260983.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(190-192)aGc>aAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							82.0	74.0	77.0					2																	197297957		2203	4300	6503	SO:0001583	missense	57520	0	0					g.chr2:197297957C>T	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.191G>A	chr2.hg19:g.197297957C>T	ENSP00000260983:p.Ser64Asn	1						p.S64N	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		2	373	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.191G>A	CCDS33354.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915329	0.92178	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.105732	0.64402	D	0.000003	T	0.65606	0.2707	M	0.76328	2.33	0.48288	D	0.999629	P	0.49090	0.919	D	0.64321	0.924	T	0.67875	-0.5557	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	64	Q9P2P5	HECW2_HUMAN	N	64	ENSP00000260983:S64N;ENSP00000409918:S64N;ENSP00000395770:S64N	ENSP00000260983:S64N	S	-	2	0	0	HECW2	197006202	197006202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.216000	0.72212	2.736000	0.93811	0.561000	0.74099	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_020760			127	126		329	325	1		1	0		0	0	71	0		1	0	0	0	0	1	0	127	329
HECW2	57520	broad.mit.edu	37	2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	18					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)			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						TGTACCGCATCTGGGGATTTC	0.592																																						ENST00000260983.3	1.000000	0.200000	5.400000e-01	2.800000e-01	0.380000	0.438716	0.380000	0.360000																										0				113						c.(52-54)caG>caT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							77.0	68.0	71.0					2																	197298094		2203	4300	6503	SO:0001583	missense	57520	0	0					g.chr2:197298094C>A	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.54G>T	chr2.hg19:g.197298094C>A	ENSP00000260983:p.Gln18His	1						p.Q18H	NM_020760.1	NP_065811.1	1	2	3	2.111737	Q9P2P5	HECW2_HUMAN		2	236	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.54G>T	CCDS33354.1	0	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821395	0.16678	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35973	1.28;1.28;1.28	5.27	3.43	0.39272	5.27	3.43	0.39272	.	0.219450	0.41001	N	0.000968	T	0.17746	0.0426	N	0.08118	0	0.29858	N	0.827875	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.38643	T	0.18	.	8.2327	0.31608	0.1562:0.7657:0.0:0.0782	.	18	Q9P2P5	HECW2_HUMAN	H	18	ENSP00000260983:Q18H;ENSP00000409918:Q18H;ENSP00000395770:Q18H	ENSP00000260983:Q18H	Q	-	3	2	2	HECW2	197006339	197006339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.697000	0.37784	0.758000	0.33059	0.561000	0.74099	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-11.944720	1	0.170000	NM_020760			13	12		443	431	0		1	0		0	0	58	0		9.994513e-01	2.927340e-03	0	0	0	3	0	13	443
CCDC150	284992	broad.mit.edu	37	2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D|CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1031										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAAGAAGCTCATCGCTGG	0.393																																						ENST00000389175.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(3091-3093)gCt>gAt		coiled-coil domain containing 150							85.0	83.0	84.0					2																	197596779		1836	4087	5923	SO:0001583	missense	284992	0	0					g.chr2:197596779C>A		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.3092C>A	chr2.hg19:g.197596779C>A	ENSP00000373827:p.Ala1031Asp	1					CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D|CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D	p.A1031D	NM_001080539.1	NP_001074008.1	1	2	3	2.111737	Q8NCX0	CC150_HUMAN		27	3227	+			Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	1	1	hg19	c.3092C>A	CCDS46478.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769785	0.31320	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.57907	0.37	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	T	0.67011	0.2848	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.865	D;B	0.87578	0.998;0.301	T	0.65928	-0.6049	10	0.48119	T	0.1	-6.3465	15.6931	0.77469	0.0:1.0:0.0:0.0	.	678;1031	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	678;1031;518	ENSP00000373827:A1031D	ENSP00000272831:A678D	A	+	2	0	0	CCDC150	197305024	197305024	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.822000	0.48073	2.679000	0.91253	0.650000	0.86243	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_001080539			70	69		205	202	1		1	1		0	0	68	0		1	2.731228e-01	0	3	0	1	0	70	205
GTF3C3	9330	broad.mit.edu	37	2	197631301	197631301	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	842					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)			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						CTACCACAAGTGGAGGGAGCT	0.448																																						ENST00000263956.3	1.000000	0.270000	6.600000e-01	3.600000e-01	0.480000	0.526622	0.480000	0.460000																										0				33						c.(2524-2526)ccA>ccG		general transcription factor IIIC, polypeptide 3, 102kDa							84.0	82.0	83.0					2																	197631301		2203	4300	6503	SO:0001819	synonymous_variant	9330	0	0					g.chr2:197631301T>C	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.2526A>G	chr2.hg19:g.197631301T>C		1						p.P842P	NM_012086.4	NP_036218.1	1	2	3	2.111737	Q9Y5Q9	TF3C3_HUMAN		17	2615	-			Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	1	1	hg19	c.2526A>G	CCDS2316.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1	0	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-14.871960	1	0.170000				15	15		401	399	0		1	1		0	0	79	0		9.998725e-01	9.012986e-01	0	7	0	103	0	15	401
GTF3C3	9330	broad.mit.edu	37	2	197654005	197654005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	272					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)			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						GCCTATAACCATCCATGGCCA	0.398																																						ENST00000263956.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(814-816)gaT>gaC		general transcription factor IIIC, polypeptide 3, 102kDa							118.0	107.0	111.0					2																	197654005		2203	4300	6503	SO:0001819	synonymous_variant	9330	0	0					g.chr2:197654005A>G	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.816T>C	chr2.hg19:g.197654005A>G		1					GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	p.D272D	NM_012086.4	NP_036218.1	1	2	3	2.111737	Q9Y5Q9	TF3C3_HUMAN		6	905	-			Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	1	1	hg19	c.816T>C	CCDS2316.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				90	88		231	231	1		1	1		0	0	42	0		1	9.999999e-01	0	27	0	38	0	90	231
C2orf66	401027	broad.mit.edu	37	2	197672174	197672174	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197672174T>C	ENST00000342506.2	-	2	1235	c.347A>G	c.(346-348)aAa>aGa	p.K116R		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	116						extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CTTTCAGCCTTTGAGATAATT	0.378																																						ENST00000342506.2	1.000000	0.160000	4.900000e-01	2.300000e-01	0.330000	0.394192	0.330000	0.310000																										0				9						c.(346-348)aAa>aGa		chromosome 2 open reading frame 66							68.0	70.0	69.0					2																	197672174		2203	4300	6503	SO:0001583	missense	401027	0	0					g.chr2:197672174T>C		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.347A>G	chr2.hg19:g.197672174T>C	ENSP00000339384:p.Lys116Arg	1						p.K116R	NM_213608.2	NP_998773.1	1	2	3	2.111737	Q6UXQ4	CB066_HUMAN		2	1235	-			B2RNW3	Missense_Mutation	SNP	ENST00000342506.2	0	1	hg19	c.347A>G	CCDS2317.1	0	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294898	0.23564	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.62	-0.661	0.11417	4.62	-0.661	0.11417	.	0.528444	0.17118	N	0.186352	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.20174	-1.0283	9	0.24483	T	0.36	-0.8599	5.9745	0.19371	0.0:0.3126:0.1355:0.5519	.	116	Q6UXQ4	CB066_HUMAN	R	116	.	ENSP00000339384:K116R	K	-	2	0	0	C2orf66	197380419	197380419	0.241000	0.23857	0.245000	0.24217	0.299000	0.27559	0.232000	0.17891	-0.011000	0.14247	-0.374000	0.07098	AAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	0	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-9.852347	1	0.170000	NM_213608			10	10		400	393	0		1	0		0	0	88	0		9.966847e-01	7.757587e-04	0	0	0	2	0	10	400
PGAP1	80055	broad.mit.edu	37	2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.4	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					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)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCGGAATCCTCCAGCTACA	0.363																																						ENST00000354764.4	1.000000	0.310000	7.100000e-01	4.100000e-01	0.530000	0.573269	0.530000	0.500000																										0				40						c.(727-729)Gga>Tga		post-GPI attachment to proteins 1							89.0	96.0	94.0					2																	197767389		2203	4300	6503	SO:0001587	stop_gained	80055	0	0					g.chr2:197767389C>A		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.727G>T	chr2.hg19:g.197767389C>A	ENSP00000346809:p.Gly243*	1					PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*	p.G243*	NM_024989.3	NP_079265.2	1	2	3	2.111737	Q75T13	PGAP1_HUMAN		5	841	-			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	0	1	hg19	c.727G>T	CCDS2318.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.947838	0.97134	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3279	18.3984	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	X	243;243;201	.	ENSP00000346809:G243X	G	-	1	0	0	PGAP1	197475634	197475634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.573000	0.86826	0.655000	0.94253	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.707273	1	0.170000	NM_024989			17	17		406	399	0		1	0		0	0	48	0		9.999619e-01	6.629226e-02	0	0	0	10	0	17	406
HSPD1	3329	broad.mit.edu	37	2	198361910	198361910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.G127G|HSPD1_ENST00000345042.2_Silent_p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	127					'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)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453																																						ENST00000388968.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(379-381)ggC>ggT		heat shock 60kDa protein 1 (chaperonin)							124.0	117.0	119.0					2																	198361910		2203	4300	6503	SO:0001819	synonymous_variant	3329	0	0					g.chr2:198361910G>A	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.381C>T	chr2.hg19:g.198361910G>A		1					HSPD1_ENST00000345042.2_Silent_p.G127G|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Silent_p.G127G|HSPE1_ENST00000409729.1_5'Flank	p.G127G	NM_002156.4	NP_002147.2	1	2	3	2.111737	P10809	CH60_HUMAN	Epithelial(96;0.225)	3	648	-			B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	1	1	hg19	c.381C>T	CCDS33357.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_002156			81	80		379	369	1		1	1		0	0	76	0		1	1	0	288	0	940	0	81	379
HSPD1	3329	broad.mit.edu	37	2	198363459	198363459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363459G>T	ENST00000388968.3	-	2	381	c.114C>A	c.(112-114)gcC>gcA	p.A38A	HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.A38A|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Silent_p.A38A|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	38					'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.A38A(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAAGCATTAAGGCTCGGGCAT	0.458																																						ENST00000388968.3	1.000000	0.310000	6.600000e-01	3.900000e-01	0.500000	0.547957	0.500000	0.490000																										1	Substitution - coding silent(1)	p.A38A(1)	skin(1)	17						c.(112-114)gcC>gcA		heat shock 60kDa protein 1 (chaperonin)							80.0	84.0	83.0					2																	198363459		2203	4300	6503	SO:0001819	synonymous_variant	3329	0	0					g.chr2:198363459G>T	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.114C>A	chr2.hg19:g.198363459G>T		1					HSPD1_ENST00000345042.2_Silent_p.A38A|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Silent_p.A38A|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank	p.A38A	NM_002156.4	NP_002147.2	1	2	3	2.111737	P10809	CH60_HUMAN	Epithelial(96;0.225)	2	381	-			B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	0	1	hg19	c.114C>A	CCDS33357.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-3.571436	1	0.170000	NM_002156			20	7		502	428	0		1	0		0	0	128	0		9.999731e-01	1	0	0	0	1121	0	20	502
HSPD1	3329	broad.mit.edu	37	2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	2					'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)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512																																						ENST00000388968.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(4-6)Ctt>Ttt		heat shock 60kDa protein 1 (chaperonin)							40.0	37.0	38.0					2																	198363569		2203	4300	6503	SO:0001583	missense	3329	0	0					g.chr2:198363569G>A	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.4C>T	chr2.hg19:g.198363569G>A	ENSP00000373620:p.Leu2Phe	1					HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank	p.L2F	NM_002156.4	NP_002147.2	1	2	3	2.111737	P10809	CH60_HUMAN	Epithelial(96;0.225)	2	271	-			B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	1	1	hg19	c.4C>T	CCDS33357.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962992	0.53507	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.77358	-0.45;-0.45;-0.1;-0.1;-0.1;-0.83;-1.07;-1.07;-1.09	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.059874	0.64402	D	0.000002	T	0.59824	0.2222	N	0.04724	-0.175	0.53688	D	0.999974	B;B;B;B	0.13145	0.007;0.001;0.001;0.002	B;B;B;B	0.15052	0.012;0.005;0.005;0.003	T	0.55866	-0.8073	10	0.15952	T	0.53	-4.9447	18.3608	0.90374	0.0:0.0:1.0:0.0	.	2;2;2;2	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	F	2;2;2;2;2;44;2;2;2	ENSP00000373620:L2F;ENSP00000340019:L2F;ENSP00000393670:L2F;ENSP00000412717:L2F;ENSP00000441296:L2F;ENSP00000414446:L44F;ENSP00000396460:L2F;ENSP00000402478:L2F;ENSP00000412227:L2F	ENSP00000340019:L2F	L	-	1	0	0	HSPD1	198071814	198071814	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.311000	0.72835	2.414000	0.81942	0.585000	0.79938	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	0	0	1		2	58	2	1		1	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_002156			37	36		174	172	1		1	1		1	0	45	0		1	1	0	305	0	757	0	37	174
RFTN2	130132	broad.mit.edu	37	2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	392					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328																																						ENST00000295049.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				30						c.(1174-1176)Aag>Gag		raftlin family member 2							93.0	85.0	88.0					2																	198460774		2203	4300	6503	SO:0001583	missense	130132	0	0					g.chr2:198460774T>C	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.1174A>G	chr2.hg19:g.198460774T>C	ENSP00000295049:p.Lys392Glu	1						p.K392E	NM_144629.2	NP_653230.2	1	2	3	2.111737	Q52LD8	RFTN2_HUMAN		8	1710	-			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	1	1	hg19	c.1174A>G	CCDS2323.1	1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085166	0.36758	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.43688	0.94;0.94	5.34	4.16	0.48862	5.34	4.16	0.48862	.	0.277824	0.40222	N	0.001152	T	0.61375	0.2342	M	0.74647	2.275	0.44995	D	0.99801	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-24.6818	9.6555	0.39923	0.1552:0.0:0.0:0.8448	.	392	Q52LD8	RFTN2_HUMAN	E	392;74	ENSP00000295049:K392E;ENSP00000387459:K74E	ENSP00000295049:K392E	K	-	1	0	0	RFTN2	198169019	198169019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.844000	0.62846	1.126000	0.42016	-0.344000	0.07964	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	1	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_144629			38	38		218	218	1		1	0		0	0	55	0		1	7.679959e-01	0	0	0	18	0	38	218
RFTN2	130132	broad.mit.edu	37	2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	77					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378																																						ENST00000295049.4	1.000000	0.230000	5.800000e-01	3.100000e-01	0.420000	0.473707	0.420000	0.400000																										0				30						c.(229-231)Ggg>Agg		raftlin family member 2							116.0	117.0	116.0					2																	198511301		2203	4300	6503	SO:0001583	missense	130132	4	121412	37				g.chr2:198511301C>T	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.229G>A	chr2.hg19:g.198511301C>T	ENSP00000295049:p.Gly77Arg	1						p.G77R	NM_144629.2	NP_653230.2	1	2	3	2.111737	Q52LD8	RFTN2_HUMAN		2	765	-			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	1	1	hg19	c.229G>A	CCDS2323.1	0	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442193	0.83993	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32023	1.47;1.47	5.39	4.5	0.54988	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47358	0.1441	L	0.51422	1.61	0.39911	D	0.974022	D	0.89917	1.0	D	0.72338	0.977	T	0.47315	-0.9127	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	R	77	ENSP00000295049:G77R;ENSP00000398128:G77R	ENSP00000295049:G77R	G	-	1	0	0	RFTN2	198219546	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	0	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-2.191049	0	0.170000	NM_144629			14	14		430	419	0		1	0		0	0	80	0		9.997166e-01	1.825304e-01	0	0	0	23	0	14	430
RFTN2	130132	broad.mit.edu	37	2	198540075	198540075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	36					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368																																						ENST00000295049.4	1.000000	0.790000	1	9.000000e-01	0.990000	0.967245	0.990000	1.000000																										0				30						c.(106-108)taC>taT		raftlin family member 2							139.0	145.0	143.0					2																	198540075		2203	4300	6503	SO:0001819	synonymous_variant	130132	1	121412	36				g.chr2:198540075G>A	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.108C>T	chr2.hg19:g.198540075G>A		1						p.Y36Y	NM_144629.2	NP_653230.2	1	2	3	2.111737	Q52LD8	RFTN2_HUMAN		1	644	-			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	1	1	hg19	c.108C>T	CCDS2323.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	1	0	1		20	2	2	1		1	1	123		123	122	1	2.060000	-13.878970	1	0.170000	NM_144629			60	59		683	668	0		1	0		1	0	123	0		9.999987e-01	1.950888e-01	0	0	0	10	0	60	683
MARS2	92935	broad.mit.edu	37	2	198570573	198570573	+	Silent	SNP	G	G	A	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	148					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607																																						ENST00000282276.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(442-444)caG>caA		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						39.0	44.0	42.0					2																	198570573		2203	4300	6503	SO:0001819	synonymous_variant	92935	0	0					g.chr2:198570573G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.444G>A	chr2.hg19:g.198570573G>A		1					AC011997.1_ENST00000409845.1_Intron	p.Q148Q	NM_138395.3	NP_612404.1	1	2	3	2.111737	Q96GW9	SYMM_HUMAN		1	487	+			A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	1	1	hg19	c.444G>A	CCDS33358.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_138395			143	136		357	352	1		1	1		0	0	87	0		1	9.993316e-01	0	12	0	18	0	143	357
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000428675.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R371Q(1)	large_intestine(1)	80						c.(1405-1407)cGa>cAa		phospholipase C-like 1	Quinacrine(DB01103)						54.0	53.0	53.0					2																	198949647		2203	4300	6503	SO:0001583	missense	5334	1	121412	31				g.chr2:198949647G>A	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	chr2.hg19:g.198949647G>A	ENSP00000402861:p.Arg469Gln	1					PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	p.R469Q	NM_006226.3	NP_006217.3	1	2	3	2.111737	Q15111	PLCL1_HUMAN		2	1804	+			Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	1	1	hg19	c.1406G>A	CCDS2326.2	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	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	0	PLCL1	198657892	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	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006226			51	50		165	163	1		1	0		0	0	35	0		1	3.432192e-01	0	0	0	5	0	51	165
PLCL1	5334	broad.mit.edu	37	2	198950755	198950755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					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.H740H(2)|p.H838H(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)	TCATGGAGCACGTAACCCTTT	0.458																																						ENST00000428675.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - coding silent(3)	p.H740H(2)|p.H838H(1)	endometrium(2)|large_intestine(1)	80						c.(2512-2514)caC>caT		phospholipase C-like 1	Quinacrine(DB01103)						175.0	147.0	156.0					2																	198950755		2203	4300	6503	SO:0001819	synonymous_variant	5334	0	0					g.chr2:198950755C>T	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.2514C>T	chr2.hg19:g.198950755C>T		1					PLCL1_ENST00000437704.2_Silent_p.H740H	p.H838H	NM_006226.3	NP_006217.3	1	2	3	2.111737	Q15111	PLCL1_HUMAN		2	2912	+			Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	1	1	hg19	c.2514C>T	CCDS2326.2	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_006226			99	99		261	254	1		1	0		0	0	63	0		1	9.276471e-01	0	0	0	14	0	99	261
PLCL1	5334	broad.mit.edu	37	2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					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)			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)	TTTAAAATAGCGGTTCATCCA	0.423																																						ENST00000428675.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2668-2670)gCg>gTg		phospholipase C-like 1	Quinacrine(DB01103)						60.0	54.0	56.0					2																	198950910		2203	4300	6503	SO:0001583	missense	5334	0	0					g.chr2:198950910C>T	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.2669C>T	chr2.hg19:g.198950910C>T	ENSP00000402861:p.Ala890Val	1					PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	p.A890V	NM_006226.3	NP_006217.3	1	2	3	2.111737	Q15111	PLCL1_HUMAN		2	3067	+			Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	1	1	hg19	c.2669C>T	CCDS2326.2	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234223	0.79688	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22539	1.95;2.01	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.089994	0.48767	D	0.000176	T	0.45558	0.1348	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55055	0.767;0.593	T	0.44498	-0.9324	9	.	.	.	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	890;816	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	890;792	ENSP00000402861:A890V;ENSP00000414138:A792V	.	A	+	2	0	0	PLCL1	198659155	198659155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.641000	0.83368	2.814000	0.96858	0.591000	0.81541	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.531216	1	0.170000	NM_006226			47	45		199	197	1		1	0		0	0	42	0		1	7.774542e-01	0	0	0	14	0	47	199
PLCL1	5334	broad.mit.edu	37	2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1025					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)			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)	CAAAGCAACTGAGAGCTTTGC	0.408																																						ENST00000428675.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3073-3075)Gag>Aag		phospholipase C-like 1	Quinacrine(DB01103)						81.0	82.0	82.0					2																	198968628		2202	4300	6502	SO:0001583	missense	5334	0	0					g.chr2:198968628G>A	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.3073G>A	chr2.hg19:g.198968628G>A	ENSP00000402861:p.Glu1025Lys	1					PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	p.E1025K	NM_006226.3	NP_006217.3	1	2	3	2.111737	Q15111	PLCL1_HUMAN		5	3471	+			Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	1	1	hg19	c.3073G>A	CCDS2326.2	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031692	0.93575	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.25912	1.77;1.87	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.53158	0.1779	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	T	0.52902	-0.8513	9	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	1025;951	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	1025;927	ENSP00000402861:E1025K;ENSP00000414138:E927K	.	E	+	1	0	0	PLCL1	198676873	198676873	1.000000	0.71417	0.967000	0.41034	0.949000	0.60115	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_006226			58	59		198	196	1		1	0		0	0	38	0		1	9.562084e-01	0	0	0	20	0	58	198
PLCL1	5334	broad.mit.edu	37	2	199011668	199011668	+	Silent	SNP	G	G	A	rs369185082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1090					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)			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)	AAAGTAGTGAGGAGAATGGGA	0.483																																						ENST00000428675.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				80						c.(3268-3270)gaG>gaA		phospholipase C-like 1	Quinacrine(DB01103)						90.0	68.0	75.0					2																	199011668		2203	4300	6503	SO:0001819	synonymous_variant	5334	0	0					g.chr2:199011668G>A	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.3270G>A	chr2.hg19:g.199011668G>A		1					PLCL1_ENST00000437704.2_Silent_p.E992E	p.E1090E	NM_006226.3	NP_006217.3	1	2	3	2.111737	Q15111	PLCL1_HUMAN		6	3668	+			Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	1	1	hg19	c.3270G>A	CCDS2326.2	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	0		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000	NM_006226			31	30		148	146	1		1	0		0	0	42	0		1	8.403877e-01	0	0	0	18	0	31	148
SATB2	23314	broad.mit.edu	37	2	200137033	200137033	+	Silent	SNP	G	G	A	rs529621505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000417098.1	-	11	2919	c.2103C>T	c.(2101-2103)aaC>aaT	p.N701N	SATB2_ENST00000443023.1_Silent_p.N642N|SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	701					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)			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						CCTCGCTGTCGTTCTCCTCTG	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.0				Colon(30;262 767 11040 24421 36230)	ENST00000417098.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2101-2103)aaC>aaT		SATB homeobox 2							128.0	117.0	121.0					2																	200137033		2203	4300	6503	SO:0001819	synonymous_variant	23314	4	121412	40				g.chr2:200137033G>A	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.2103C>T	chr2.hg19:g.200137033G>A		1					SATB2_ENST00000443023.1_Silent_p.N642N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N	p.N701N	NM_001172509.1	NP_001165980.1	1	2	3	2.111737	Q9UPW6	SATB2_HUMAN		11	2919	-			A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	1	1	hg19	c.2103C>T	CCDS2327.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_015265			115	114		496	484	1		1	1		0	0	82	0		1	9.941512e-01	0	8	0	28	0	115	496
SATB2	23314	broad.mit.edu	37	2	200137137	200137137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137137G>A	ENST00000417098.1	-	11	2815	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	SATB2_ENST00000443023.1_Missense_Mutation_p.R608W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667					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)			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						ACGTGGTACCGCTGGTTCTGG	0.562																																					Colon(30;262 767 11040 24421 36230)	ENST00000417098.1	1.000000	0.180000	4.400000e-01	2.400000e-01	0.320000	0.382578	0.320000	0.310000																										0				62						c.(1999-2001)Cgg>Tgg		SATB homeobox 2							160.0	142.0	148.0					2																	200137137		2203	4300	6503	SO:0001583	missense	23314	0	0					g.chr2:200137137G>A	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.1999C>T	chr2.hg19:g.200137137G>A	ENSP00000401112:p.Arg667Trp	1					SATB2_ENST00000443023.1_Missense_Mutation_p.R608W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W	p.R667W	NM_001172509.1	NP_001165980.1	1	2	3	2.111737	Q9UPW6	SATB2_HUMAN		11	2815	-			A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	0	1	hg19	c.1999C>T	CCDS2327.1	0	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827751	0.71143	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51	5.5	2.55	0.30701	5.5	2.55	0.30701	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.98188	1.0461	10	0.87932	D	0	-17.9892	14.6014	0.68443	0.0:0.0:0.6084:0.3916	.	549;667	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	W	667;608;667;549;667	ENSP00000401112:R667W;ENSP00000388764:R608W;ENSP00000260926:R667W;ENSP00000388581:R549W;ENSP00000405420:R667W	ENSP00000260926:R667W	R	-	1	2	2	SATB2	199845382	199845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.612000	0.61169	0.294000	0.22547	0.650000	0.86243	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	0	0	0		2	2	2	0		0	0	95		95	94	1	2.060000	-2.526034	1	0.170000	NM_015265			16	15		646	638	0		1	1		0	0	95	0		9.999253e-01	1.989488e-01	0	3	0	29	0	16	646
SATB2	23314	broad.mit.edu	37	2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000417098.1	-	11	2765	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	SATB2_ENST00000443023.1_Missense_Mutation_p.A591V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	650					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)			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						ATCCAGCTGAGCCGAAAGAGT	0.542																																					Colon(30;262 767 11040 24421 36230)	ENST00000417098.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1948-1950)gCt>gTt		SATB homeobox 2							137.0	122.0	127.0					2																	200137187		2203	4300	6503	SO:0001583	missense	23314	0	0					g.chr2:200137187G>A	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.1949C>T	chr2.hg19:g.200137187G>A	ENSP00000401112:p.Ala650Val	1					SATB2_ENST00000443023.1_Missense_Mutation_p.A591V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V	p.A650V	NM_001172509.1	NP_001165980.1	1	2	3	2.111737	Q9UPW6	SATB2_HUMAN		11	2765	-			A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	1	1	hg19	c.1949C>T	CCDS2327.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698599	0.88830	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.5	5.5	0.81552	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.983;0.992	D	0.97639	1.0147	10	0.72032	D	0.01	-14.0989	19.762	0.96323	0.0:0.0:1.0:0.0	.	532;650	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	650;591;650;532;650	ENSP00000401112:A650V;ENSP00000388764:A591V;ENSP00000260926:A650V;ENSP00000388581:A532V;ENSP00000405420:A650V	ENSP00000260926:A650V	A	-	2	0	0	SATB2	199845432	199845432	1.000000	0.71417	0.341000	0.25589	0.936000	0.57629	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	0		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_015265			89	86		472	465	1		1	1		0	0	95	0		1	9.403024e-01	0	5	0	22	0	89	472
SATB2	23314	broad.mit.edu	37	2	200173513	200173513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000417098.1	-	10	2526	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	SATB2_ENST00000443023.1_Silent_p.H511H|SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	570					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.H570H(2)		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						GCTGGACCACGTGTTGCATGC	0.607																																					Colon(30;262 767 11040 24421 36230)	ENST00000417098.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.H570H(2)	large_intestine(1)|endometrium(1)	62						c.(1708-1710)caC>caT		SATB homeobox 2							162.0	133.0	143.0					2																	200173513		2203	4300	6503	SO:0001819	synonymous_variant	23314	0	0					g.chr2:200173513G>A	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.1710C>T	chr2.hg19:g.200173513G>A		1					SATB2_ENST00000443023.1_Silent_p.H511H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H	p.H570H	NM_001172509.1	NP_001165980.1	1	2	3	2.111737	Q9UPW6	SATB2_HUMAN		10	2526	-			A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	1	1	hg19	c.1710C>T	CCDS2327.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_015265			110	110		524	515	0		1	1		0	0	98	0		1	8.827914e-01	0	5	0	15	0	110	524
C2orf69	205327	broad.mit.edu	37	2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T	rs547152139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	227						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCTCATACTACGAATGGTTGC	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.0					ENST00000319974.5	1.000000	0.700000	1	8.600000e-01	0.990000	0.952124	0.990000	1.000000																										0				11						c.(679-681)aCg>aTg		chromosome 2 open reading frame 69							57.0	57.0	57.0					2																	200790131		1840	4101	5941	SO:0001583	missense	205327	3	120796	37				g.chr2:200790131C>T		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.680C>T	chr2.hg19:g.200790131C>T	ENSP00000312770:p.Thr227Met	1					C2orf69_ENST00000491721.1_Intron	p.T227M	NM_153689.5	NP_710156.3	1	2	3	2.111737	Q8N8R5	CB069_HUMAN		2	863	+			Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	1	1	hg19	c.680C>T	CCDS46482.1	1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117427	0.56505	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.32	4.45	0.53987	5.32	4.45	0.53987	.	0.377447	0.20781	N	0.085794	T	0.65811	0.2727	L	0.39898	1.24	0.37250	D	0.906511	D	0.76494	0.999	D	0.63033	0.91	T	0.72890	-0.4155	9	0.72032	D	0.01	-9.0066	14.2091	0.65753	0.0:0.816:0.184:0.0	.	227	Q8N8R5	CB069_HUMAN	M	227	.	ENSP00000312770:T227M	T	+	2	0	0	C2orf69	200498376	200498376	0.816000	0.29132	0.993000	0.49108	0.959000	0.62525	2.848000	0.48278	1.467000	0.48044	0.655000	0.94253	ACG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-8.781776	1	0.170000	NM_153689			25	25		281	275	1		1	1		0	0	68	0		9.999998e-01	9.924596e-01	0	13	0	76	0	25	281
WDR35	57539	broad.mit.edu	37	2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000281405.4_Missense_Mutation_p.A852T|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	863					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353																																						ENST00000345530.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2587-2589)Gca>Aca		WD repeat domain 35							111.0	96.0	101.0					2																	20133266		2203	4300	6503	SO:0001583	missense	57539	0	0					g.chr2:20133266C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2587G>A	chr2.hg19:g.20133266C>T	ENSP00000314444:p.Ala863Thr	1					WDR35_ENST00000281405.4_Missense_Mutation_p.A852T|WDR35_ENST00000416055.2_Intron	p.A863T	NM_001006657.1	NP_001006658.1	1	2	3	2.183349	Q9P2L0	WDR35_HUMAN		23	2702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	1	1	hg19	c.2587G>A	CCDS33152.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567960	0.65651	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.058201	0.64402	D	0.000002	T	0.55737	0.1939	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58820	0.843;0.846	T	0.61618	-0.7026	10	0.87932	D	0	-13.325	18.2704	0.90066	0.0:1.0:0.0:0.0	.	852;863	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	863;852	ENSP00000314444:A863T;ENSP00000281405:A852T	ENSP00000281405:A852T	A	-	1	0	0	WDR35	19996747	19996747	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.450000	0.80656	2.635000	0.89317	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_020779			73	72		190	189	1		1	1		0	0	48	0		1	9.981748e-01	0	9	0	19	0	73	190
C2orf47	79568	broad.mit.edu	37	2	200824039	200824039	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000392290.1	+	2	695	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	167						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						ATTTGATCTGTTGGAAGAACT	0.308																																						ENST00000392290.1	1.000000	0.200000	5.100000e-01	2.700000e-01	0.360000	0.426402	0.360000	0.350000																										0				9						c.(499-501)Ttg>Ctg		chromosome 2 open reading frame 47							155.0	157.0	156.0					2																	200824039		2203	4300	6503	SO:0001819	synonymous_variant	79568	0	0					g.chr2:200824039T>C	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.499T>C	chr2.hg19:g.200824039T>C		1					C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L	p.L167L			1	2	3	2.111737	Q8WWC4	CB047_HUMAN		2	695	+			Q658V9|Q9H671	Silent	SNP	ENST00000392290.1	1	1	hg19	c.499T>C	CCDS2329.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.473210	1	0.170000	NM_024520			14	14		493	485	0		1	1		0	0	78	0		9.997276e-01	9.021144e-01	0	4	0	140	0	14	493
KCTD18	130535	broad.mit.edu	37	2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T	rs201870494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	319					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632																																						ENST00000359878.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(955-957)cGc>cAc		potassium channel tetramerization domain containing 18							36.0	40.0	38.0					2																	201355148		2203	4300	6503	SO:0001583	missense	130535	0	0					g.chr2:201355148C>T	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.956G>A	chr2.hg19:g.201355148C>T	ENSP00000352941:p.Arg319His	1					KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	p.R319H	NM_152387.2	NP_689600.2	1	2	3	2.111737	Q6PI47	KCD18_HUMAN		7	1466	-			Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	1	1	hg19	c.956G>A	CCDS2330.1	1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932449	0.18131	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.34275	1.37;1.37	3.3	-0.435	0.12279	3.3	-0.435	0.12279	.	3.470240	0.00839	N	0.001735	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.25751	T	0.34	-0.0013	2.148	0.03792	0.2456:0.3222:0.0:0.4322	.	319	Q6PI47	KCD18_HUMAN	H	319	ENSP00000352941:R319H;ENSP00000386751:R319H	ENSP00000352941:R319H	R	-	2	0	0	KCTD18	201063393	201063393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.366000	0.07563	-0.199000	0.10317	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_152387			101	98		274	267	1		1	1		0	0	43	0		1	1	0	26	0	60	0	101	274
KCTD18	130535	broad.mit.edu	37	2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	274					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463																																						ENST00000359878.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(820-822)aAg>aCg		potassium channel tetramerization domain containing 18							65.0	70.0	68.0					2																	201355283		2203	4300	6503	SO:0001583	missense	130535	0	0					g.chr2:201355283T>G	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.821A>C	chr2.hg19:g.201355283T>G	ENSP00000352941:p.Lys274Thr	1					KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	p.K274T	NM_152387.2	NP_689600.2	1	2	3	2.111737	Q6PI47	KCD18_HUMAN		7	1331	-			Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	1	1	hg19	c.821A>C	CCDS2330.1	1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198727	0.58126	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.54479	0.57;0.57	5.09	3.91	0.45181	5.09	3.91	0.45181	.	0.086833	0.49916	N	0.000137	T	0.39489	0.1080	L	0.32530	0.975	0.35781	D	0.821628	P	0.43169	0.8	B	0.36534	0.227	T	0.54410	-0.8298	10	0.87932	D	0	-20.859	11.6997	0.51564	0.0:0.0:0.1484:0.8516	.	274	Q6PI47	KCD18_HUMAN	T	274	ENSP00000352941:K274T;ENSP00000386751:K274T	ENSP00000352941:K274T	K	-	2	0	0	KCTD18	201063528	201063528	1.000000	0.71417	0.976000	0.42696	0.924000	0.55760	3.977000	0.56874	0.925000	0.37094	0.533000	0.62120	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_152387			93	93		253	246	1		1	1		0	0	52	0		1	1	0	38	0	68	0	93	253
AOX1	316	broad.mit.edu	37	2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				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)			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)	GGCAGTGAGAGAATGATGTGG	0.468																																						ENST00000374700.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(718-720)aGa>aTa		aldehyde oxidase 1	Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						156.0	137.0	144.0					2																	201469468		2203	4300	6503	SO:0001583	missense	316	0	0					g.chr2:201469468G>T	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.719G>T	chr2.hg19:g.201469468G>T	ENSP00000363832:p.Arg240Ile	1						p.R240I	NM_001159.3	NP_001150.3	1	2	3	2.111737	Q06278	AOXA_HUMAN		9	960	+			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	1	1	hg19	c.719G>T	CCDS33360.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594960	0.86953	.	.	ENSG00000138356	ENST00000374700	T	0.23950	1.88	5.27	5.27	0.74061	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.047834	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.67304	-0.5704	10	0.87932	D	0	-52.8732	19.0885	0.93215	0.0:0.0:1.0:0.0	.	240	Q06278	ADO_HUMAN	I	240	ENSP00000363832:R240I	ENSP00000363832:R240I	R	+	2	0	0	AOX1	201177713	201177713	1.000000	0.71417	0.109000	0.21407	0.003000	0.03518	5.971000	0.70440	2.758000	0.94735	0.561000	0.74099	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_001159			85	84		517	508	1		1	0		0	0	113	0		1	6.100621e-01	0	0	0	14	0	85	517
AOX1	316	broad.mit.edu	37	2	201477379	201477379	+	Silent	SNP	G	G	A	rs146899961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201477379G>A	ENST00000374700.2	+	14	1552	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	437					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)			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)	AGGAGAATGCGCTAGCGATAG	0.468																																						ENST00000374700.2	1.000000	0.240000	5.500000e-01	3.100000e-01	0.400000	0.461818	0.400000	0.380000																										0				81						c.(1309-1311)gcG>gcA		aldehyde oxidase 1	Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						146.0	137.0	140.0					2																	201477379		2203	4300	6503	SO:0001819	synonymous_variant	316	1	121412	41				g.chr2:201477379G>A	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.1311G>A	chr2.hg19:g.201477379G>A		1					AOX1_ENST00000485106.1_3'UTR	p.A437A	NM_001159.3	NP_001150.3	1	2	3	2.111737	Q06278	AOXA_HUMAN		14	1552	+			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	1	1	hg19	c.1311G>A	CCDS33360.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-2.968727	1	0.170000	NM_001159			18	18		564	556	0		1	0		0	0	86	0		9.999798e-01	2.200629e-01	0	0	0	27	0	18	564
CLK1	1195	broad.mit.edu	37	2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000321356.4	-	7	872	c.737T>G	c.(736-738)cTt>cGt	p.L246R	CLK1_ENST00000409769.2_Missense_Mutation_p.L69R|CLK1_ENST00000434813.2_Missense_Mutation_p.L288R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	246	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)			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						GTAAGTACTAAGTCCCAATAG	0.363																																						ENST00000321356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(736-738)cTt>cGt		CDC-like kinase 1							104.0	98.0	100.0					2																	201722536		2203	4300	6503	SO:0001583	missense	1195	0	0					g.chr2:201722536A>C	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.737T>G	chr2.hg19:g.201722536A>C	ENSP00000326830:p.Leu246Arg	1					CLK1_ENST00000409769.2_Missense_Mutation_p.L69R|CLK1_ENST00000434813.2_Missense_Mutation_p.L288R	p.L246R	NM_004071.3	NP_004062.2	1	2	3	2.111737	P49759	CLK1_HUMAN		7	872	-			B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	1	1	hg19	c.737T>G	CCDS2331.1	1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411233	0.62399	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	5.2	5.2	0.72013	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	0.28995	0.0720	N	0.16098	0.37	0.80722	D	1	P;P;P;D	0.89917	0.524;0.929;0.524;1.0	B;B;P;D	0.97110	0.406;0.406;0.51;1.0	T	0.11616	-1.0580	10	0.33141	T	0.24	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	288;216;246;69	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	246;216;69;288	ENSP00000326830:L246R;ENSP00000386358:L69R;ENSP00000394734:L288R	ENSP00000326830:L246R	L	-	2	0	0	CLK1	201430781	201430781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.460000	0.39030	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				51	50		292	291	1		1	1		0	0	93	0		1	9.999969e-01	0	22	0	88	0	51	292
CLK1	1195	broad.mit.edu	37	2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000321356.4	-	6	785	c.650A>G	c.(649-651)gAc>gGc	p.D217G	CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000434813.2_Missense_Mutation_p.D259G|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	217	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)			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						ACTGTTGGGGTCTGTTGTATT	0.358																																						ENST00000321356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(649-651)gAc>gGc		CDC-like kinase 1							154.0	152.0	153.0					2																	201722711		2203	4300	6503	SO:0001583	missense	1195	2	121412	35				g.chr2:201722711T>C	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.650A>G	chr2.hg19:g.201722711T>C	ENSP00000326830:p.Asp217Gly	1					CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000434813.2_Missense_Mutation_p.D259G|CLK1_ENST00000492793.1_5'Flank	p.D217G	NM_004071.3	NP_004062.2	1	2	3	2.111737	P49759	CLK1_HUMAN		6	785	-			B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	1	1	hg19	c.650A>G	CCDS2331.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978869	0.74360	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.64085	-0.08;-0.08;-0.08	5.41	5.41	0.78517	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);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	15.4044	0.74866	0.0:0.0:0.0:1.0	.	259;187;217;40	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	G	217;187;40;259	ENSP00000326830:D217G;ENSP00000386358:D40G;ENSP00000394734:D259G	ENSP00000326830:D217G	D	-	2	0	0	CLK1	201430956	201430956	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.997000	0.88414	2.178000	0.69098	0.460000	0.39030	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				72	70		453	446	1		1	1		0	0	103	0		1	9.999999e-01	0	31	0	116	0	72	453
CLK1	1195	broad.mit.edu	37	2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000321356.4	-	6	700	c.565G>T	c.(565-567)Gca>Tca	p.A189S	CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000434813.2_Missense_Mutation_p.A231S|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	189	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)			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						ATTTTTACTGCTACATGTCTA	0.378																																						ENST00000321356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(565-567)Gca>Tca		CDC-like kinase 1							155.0	146.0	149.0					2																	201722796		2203	4300	6503	SO:0001583	missense	1195	0	0					g.chr2:201722796C>A	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.565G>T	chr2.hg19:g.201722796C>A	ENSP00000326830:p.Ala189Ser	1					CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000434813.2_Missense_Mutation_p.A231S|CLK1_ENST00000492793.1_5'Flank	p.A189S	NM_004071.3	NP_004062.2	1	2	3	2.111737	P49759	CLK1_HUMAN		6	700	-			B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	1	1	hg19	c.565G>T	CCDS2331.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780641	0.90195	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.56275	0.47;0.47;0.47	5.6	4.69	0.59074	5.6	4.69	0.59074	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	0.79811	0.4510	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.85491	0.1185	10	0.87932	D	0	.	15.5631	0.76266	0.1385:0.8615:0.0:0.0	.	231;159;189;12	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	189;159;12;231	ENSP00000326830:A189S;ENSP00000386358:A12S;ENSP00000394734:A231S	ENSP00000326830:A189S	A	-	1	0	0	CLK1	201431041	201431041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.626000	0.88956	0.563000	0.77884	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	0		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				71	70		415	410	1		1	1		0	0	75	0		1	1	0	22	0	151	0	71	415
FAM126B	285172	broad.mit.edu	37	2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	44						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328																																						ENST00000418596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(130-132)gTt>gGt		family with sequence similarity 126, member B							92.0	93.0	93.0					2																	201887576		2203	4300	6503	SO:0001583	missense	285172	0	0					g.chr2:201887576A>C	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.131T>G	chr2.hg19:g.201887576A>C	ENSP00000393667:p.Val44Gly	1					FAM126B_ENST00000485144.1_5'UTR	p.V44G	NM_173822.3	NP_776183.1	1	2	3	2.111737	Q8IXS8	F126B_HUMAN		4	318	-			B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	1	1	hg19	c.131T>G	CCDS2335.1	1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627956	0.66901	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;D	0.85955	-1.25;-1.25;-1.25;-2.05	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93478	0.6825	10	0.87932	D	0	-12.7992	15.9596	0.79918	1.0:0.0:0.0:0.0	.	44	Q8IXS8	F126B_HUMAN	G	44	ENSP00000393667:V44G;ENSP00000401905:V44G;ENSP00000408374:V44G;ENSP00000412139:V44G	ENSP00000286181:V44G	V	-	2	0	0	FAM126B	201595821	201595821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.860000	0.92272	2.220000	0.72140	0.533000	0.62120	GTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_173822			61	58		332	328	1		1	1		0	0	79	0		1	9.771509e-01	0	12	0	23	0	61	332
CFLAR	8837	broad.mit.edu	37	2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000309955.3	+	2	535	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	7	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(19-21)cAt>cGt		CASP8 and FADD-like apoptosis regulator							171.0	167.0	169.0					2																	201994608		2203	4300	6503	SO:0001583	missense	8837	0	0					g.chr2:201994608A>G	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.20A>G	chr2.hg19:g.201994608A>G	ENSP00000312455:p.His7Arg	1					CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R	p.H7R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	1	2	3	2.111737	O15519	CFLAR_HUMAN		2	535	+			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	1	1	hg19	c.20A>G	CCDS2337.1	1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358134	0.41801	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.72;0.82;0.82;3.59;4.0;0.86;3.72;0.82;3.59	5.9	3.44	0.39384	5.9	3.44	0.39384	DEATH-like (2);Death effector (3);	0.383959	0.31221	N	0.008038	T	0.60534	0.2276	M	0.66939	2.045	0.38335	D	0.943914	P;D;D;D;P;D;P	0.76494	0.899;0.999;0.999;0.999;0.876;0.967;0.899	P;D;D;D;P;P;P	0.70716	0.834;0.95;0.95;0.97;0.794;0.744;0.901	T	0.59016	-0.7533	10	0.22109	T	0.4	-10.5801	10.0593	0.42263	0.7312:0.0:0.0:0.2688	.	7;7;7;7;7;7;7	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	R	7	ENSP00000312455:H7R;ENSP00000339335:H7R;ENSP00000347757:H7R;ENSP00000339326:H7R;ENSP00000345807:H7R;ENSP00000342809:H7R;ENSP00000399420:H7R;ENSP00000406775:H7R;ENSP00000411535:H7R	ENSP00000312455:H7R	H	+	2	0	0	CFLAR	201702853	201702853	1.000000	0.71417	0.990000	0.47175	0.091000	0.18340	3.037000	0.49775	0.434000	0.26340	0.460000	0.39030	CAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	0		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_003879			187	184		613	606	1		1	1		0	0	129	0		1	1	0	401	0	271	0	187	613
CFLAR	8837	broad.mit.edu	37	2	201994684	201994684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000309955.3	+	2	611	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	32	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(94-96)gtG>gtA		CASP8 and FADD-like apoptosis regulator							206.0	197.0	200.0					2																	201994684		2203	4300	6503	SO:0001819	synonymous_variant	8837	5	121412	42				g.chr2:201994684G>A	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.96G>A	chr2.hg19:g.201994684G>A		1					CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V	p.V32V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	1	2	3	2.111737	O15519	CFLAR_HUMAN		2	611	+			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	1	1	hg19	c.96G>A	CCDS2337.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	0		2	2	2	0		0	0	155		155	154	1	2.060000	-5.932683	1	0.170000	NM_003879			216	211		678	664	1		1	1		0	0	155	0		1	1	0	743	0	486	0	216	678
CFLAR	8837	broad.mit.edu	37	2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.3	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	RNU7-45P_ENST00000459460.1_RNA|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	197	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(589-591)cCt>cAt		CASP8 and FADD-like apoptosis regulator							112.0	112.0	112.0					2																	202005146		2203	4300	6503	SO:0001583	missense	8837	0	0					g.chr2:202005146C>A	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.590C>A	chr2.hg19:g.202005146C>A	ENSP00000312455:p.Pro197His	1					CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H	p.P197H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	1	2	3	2.111737	O15519	CFLAR_HUMAN		5	1105	+			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	1	1	hg19	c.590C>A	CCDS2337.1	1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086986	0.07097	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T;T	0.48522	3.71;3.71;0.81;0.81;3.58;3.93;0.87;3.71;0.81;3.58	4.69	1.81	0.25067	4.69	1.81	0.25067	.	0.885835	0.10210	N	0.702195	T	0.36690	0.0976	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B	0.30973	0.095;0.021;0.241;0.127;0.155;0.302;0.127	B;B;B;B;B;B;B	0.32624	0.032;0.016;0.103;0.075;0.048;0.149;0.075	T	0.30357	-0.9981	10	0.38643	T	0.18	0.0436	4.1779	0.10360	0.1818:0.6268:0.0:0.1914	.	101;197;197;197;197;197;197	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	197;101;197;197;197;101;197;197;197;197;197	ENSP00000312455:P197H;ENSP00000413270:P101H;ENSP00000339335:P197H;ENSP00000347757:P197H;ENSP00000339326:P197H;ENSP00000345807:P197H;ENSP00000342809:P197H;ENSP00000399420:P197H;ENSP00000406775:P197H;ENSP00000411535:P197H	ENSP00000312455:P197H	P	+	2	0	0	CFLAR	201713391	201713391	0.010000	0.17322	0.015000	0.15790	0.043000	0.13939	0.479000	0.22228	0.405000	0.25532	0.650000	0.86243	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-5.415438	1	0.170000	NM_003879			115	111		335	328	1		1	1		0	0	82	0		1	1	0	498	0	334	0	115	335
CFLAR	8837	broad.mit.edu	37	2	202025276	202025276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	305	Caspase.|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3	1.000000	0.860000	1	9.700000e-01	0.990000	0.985931	0.990000	1.000000																										0				13						c.(913-915)taC>taT		CASP8 and FADD-like apoptosis regulator							197.0	176.0	183.0					2																	202025276		2203	4300	6503	SO:0001819	synonymous_variant	8837	0	0					g.chr2:202025276C>T	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.915C>T	chr2.hg19:g.202025276C>T		1					CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron	p.Y305Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	1	2	3	2.111737	O15519	CFLAR_HUMAN		9	1430	+			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	1	1	hg19	c.915C>T	CCDS2337.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	0	0	1		18	8	2	1		1	1	168		168	167	1	2.060000	-17.637340	1	0.170000	NM_003879			74	74		793	775	1		1	1		1	0	168	0		1	9.997966e-01	0	26	0	246	0	74	793
CASP10	843	broad.mit.edu	37	2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000272879.5	+	2	246	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000286186.6_Missense_Mutation_p.R21H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	21	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.		R -> C (found in a multiple myeloma sample; somatic mutation). {ECO:0000269|PubMed:19900088}.		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)			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						GTGAGCTTTCGTGAGAAGCTT	0.463																																						ENST00000272879.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(61-63)cGt>cAt		caspase 10, apoptosis-related cysteine peptidase		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	77.0	75.0		62,62,62,62,62,62	3.3	0.0	2	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	29,29,29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/456,21/479,21/480,21/522,21/274,21/523	202050562	4,13002	2203	4300	6503	SO:0001583	missense	843	7	121412	41				g.chr2:202050562G>A	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.62G>A	chr2.hg19:g.202050562G>A	ENSP00000272879:p.Arg21His	1					CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000286186.6_Missense_Mutation_p.R21H	p.R21H	NM_032974.4	NP_116756.2	1	2	3	2.111737	Q92851	CASPA_HUMAN		2	246	+			Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	1	1	hg19	c.62G>A	CCDS2338.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591814	0.46214	0.0	4.65E-4	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.13	3.29	0.37713	5.13	3.29	0.37713	DEATH-like (2);Death effector (3);	0.912306	0.09231	N	0.830544	D	0.88994	0.6589	M	0.62266	1.93	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76071	0.978;0.975;0.987;0.98;0.968;0.984	T	0.76027	-0.3109	10	0.72032	D	0.01	.	9.6803	0.40065	0.1771:0.0:0.8229:0.0	.	21;21;21;21;21;21	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	H	21	ENSP00000286186:R21H;ENSP00000353250:R21H;ENSP00000272879:R21H;ENSP00000363781:R21H;ENSP00000237865:R21H;ENSP00000314599:R21H;ENSP00000396835:R21H	ENSP00000272879:R21H	R	+	2	0	0	CASP10	201758807	201758807	0.201000	0.23410	0.021000	0.16686	0.036000	0.12997	0.779000	0.26746	1.286000	0.44565	0.655000	0.94253	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	1	0	1		19	2	2	0		0	1	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_032977			135	131		419	410	1		1	1		0	0	99	0		1	9.999923e-01	0	11	0	44	0	135	419
CASP8	841	broad.mit.edu	37	2	202149924	202149924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000432109.2	+	9	1377	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	CASP8_ENST00000358485.4_Silent_p.E455E|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	396					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|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 extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000432109.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1186-1188)gaG>gaA		caspase 8, apoptosis-related cysteine peptidase							71.0	66.0	68.0					2																	202149924		2203	4300	6503	SO:0001819	synonymous_variant	841	2	121412	32				g.chr2:202149924G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1188G>A	chr2.hg19:g.202149924G>A		1	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000358485.4_Silent_p.E455E|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000264275.5_Silent_p.E413E	p.E396E	NM_033355.3	NP_203519.1	1	2	3	2.111737	Q14790	CASP8_HUMAN		9	1377	+			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	1	1	hg19	c.1188G>A	CCDS2342.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_001228			87	85		247	242	0		1	1		0	0	57	0		1	9.999996e-01	0	18	0	45	0	87	247
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|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 extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000432109.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										4	Substitution - Nonsense(4)	p.R449*(2)|p.R491*(2)	large_intestine(4)	52						c.(1294-1296)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							88.0	79.0	82.0					2																	202150030		2203	4300	6503	SO:0001587	stop_gained	841	0	0					g.chr2:202150030C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1294C>T	chr2.hg19:g.202150030C>T	ENSP00000412523:p.Arg432*	1	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*	p.R432*	NM_033355.3	NP_203519.1	1	2	3	2.111737	Q14790	CASP8_HUMAN		9	1483	+			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	0	1	hg19	c.1294C>T	CCDS2342.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	2	CASP8	201858275	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001228			97	94		299	292	1		1	1		0	0	77	0		1	9.999999e-01	0	18	0	55	0	97	299
TRAK2	66008	broad.mit.edu	37	2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	418	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483																																						ENST00000332624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1252-1254)Tct>Cct		trafficking protein, kinesin binding 2							109.0	106.0	107.0					2																	202254168		2203	4300	6503	SO:0001583	missense	66008	0	0					g.chr2:202254168A>G	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.1252T>C	chr2.hg19:g.202254168A>G	ENSP00000328875:p.Ser418Pro	1						p.S418P	NM_015049.2	NP_055864.2	1	2	3	2.111737	O60296	TRAK2_HUMAN		12	1680	-			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	1	1	hg19	c.1252T>C	CCDS2347.1	1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226869	0.39399	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48201	0.82	5.9	2.16	0.27623	5.9	2.16	0.27623	Trafficking kinesin-binding protein domain (1);	0.319626	0.30193	N	0.010189	T	0.44623	0.1302	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.22386	0.039	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.0029	0.30308	0.6399:0.1238:0.0:0.2363	.	418	O60296	TRAK2_HUMAN	P	418;324	ENSP00000328875:S418P	ENSP00000328875:S418P	S	-	1	0	0	TRAK2	201962413	201962413	0.996000	0.38824	0.477000	0.27303	0.521000	0.34408	2.190000	0.42630	0.121000	0.18284	0.528000	0.53228	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_015049			64	64		383	374	1		1	1		0	0	55	0		1	1	0	16	0	139	0	64	383
TRAK2	66008	broad.mit.edu	37	2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	356					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368																																						ENST00000332624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1066-1068)cCt>cAt		trafficking protein, kinesin binding 2							114.0	116.0	115.0					2																	202257678		2203	4300	6503	SO:0001583	missense	66008	0	0					g.chr2:202257678G>T	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.1067C>A	chr2.hg19:g.202257678G>T	ENSP00000328875:p.Pro356His	1						p.P356H	NM_015049.2	NP_055864.2	1	2	3	2.111737	O60296	TRAK2_HUMAN		10	1495	-			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	1	1	hg19	c.1067C>A	CCDS2347.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237315	0.79800	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.13778	2.56	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.067807	0.64402	D	0.000011	T	0.30947	0.0781	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.02391	-1.1166	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.8338:0.1662	.	356	O60296	TRAK2_HUMAN	H	356;262	ENSP00000328875:P356H	ENSP00000328875:P356H	P	-	2	0	0	TRAK2	201965923	201965923	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.501000	0.73691	2.631000	0.89168	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-19.999990	1	0.170000	NM_015049			39	39		150	149	1		1	1		0	0	29	0		1	9.999960e-01	0	12	0	66	0	39	150
TRAK2	66008	broad.mit.edu	37	2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	92	HAP1 N-terminal.				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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388																																						ENST00000332624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(274-276)tTc>tAc		trafficking protein, kinesin binding 2							68.0	59.0	62.0					2																	202272137		2203	4300	6503	SO:0001583	missense	66008	0	0					g.chr2:202272137A>T	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.275T>A	chr2.hg19:g.202272137A>T	ENSP00000328875:p.Phe92Tyr	1					TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	p.F92Y	NM_015049.2	NP_055864.2	1	2	3	2.111737	O60296	TRAK2_HUMAN		3	703	-			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	1	1	hg19	c.275T>A	CCDS2347.1	1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803037	0.90623	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18174	2.23;2.23	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	T	0.08472	-1.0720	10	0.72032	D	0.01	.	15.2183	0.73288	1.0:0.0:0.0:0.0	.	92;92	E7EV21;O60296	.;TRAK2_HUMAN	Y	92	ENSP00000328875:F92Y;ENSP00000409333:F92Y	ENSP00000328875:F92Y	F	-	2	0	0	TRAK2	201980382	201980382	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.194000	0.89721	2.180000	0.69256	0.460000	0.39030	TTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015049			55	54		140	140	0		1	1		0	0	37	0		1	1	0	25	0	68	0	55	140
STRADB	55437	broad.mit.edu	37	2	202339474	202339474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	140	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)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343																																						ENST00000194530.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(418-420)gcC>gcT		STE20-related kinase adaptor beta							84.0	85.0	85.0					2																	202339474		2203	4300	6503	SO:0001819	synonymous_variant	55437	0	0					g.chr2:202339474C>T	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.420C>T	chr2.hg19:g.202339474C>T		1					STRADB_ENST00000392249.2_Silent_p.A140A	p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	1	2	3	2.111737	Q9C0K7	STRAB_HUMAN		6	785	+			Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	1	1	hg19	c.420C>T	CCDS2348.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	1	0	1		2	2	2	0		0	0	88		88	89	1	2.060000	-20.000000	1	0.170000	NM_018571			111	108		329	323	1		1	1		0	0	88	0		1	9.953215e-01	0	4	0	23	0	111	329
MPP4	58538	broad.mit.edu	37	2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409474.3	-	17	1501	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	432	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)				kidney(1)|lung(11)	12						ATACCCATGAGCACTATGAGG	0.537																																						ENST00000409474.3	1.000000	0.630000	1	9.900000e-01	0.990000	0.968579	0.990000	1.000000																										0				12						c.(1294-1296)Ctc>Atc		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							35.0	38.0	37.0					2																	202520927		2083	4212	6295	SO:0001583	missense	58538	0	0					g.chr2:202520927G>T	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.1294C>A	chr2.hg19:g.202520927G>T	ENSP00000387278:p.Leu432Ile	1					MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I	p.L432I	NM_033066.2	NP_149055	1	2	3	2.111737	Q96JB8	MPP4_HUMAN		17	1501	-			C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	0	1	hg19	c.1294C>A	CCDS46491.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315542	0.81469	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.67	5.67	0.87782	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.076523	0.53938	D	0.000049	T	0.65165	0.2665	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.971;0.999;0.999;0.999;0.999;0.999;1.0	T	0.66060	-0.6017	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	374;357;408;401;388;425;432;397	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	I	432;388;357;432;397;361;408;374;425	ENSP00000387278:L432I;ENSP00000319363:L388I;ENSP00000353047:L432I;ENSP00000416781:L408I;ENSP00000387293:L374I;ENSP00000406160:L425I	ENSP00000319363:L388I	L	-	1	0	0	MPP4	202229172	202229172	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.790000	0.75115	2.676000	0.91093	0.655000	0.94253	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-12.248030	1	0.170000				6	6		48	47	1		1	0		0	0	16	0		9.659657e-01	0	0	0	0	1	0	6	48
ALS2	57679	broad.mit.edu	37	2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	484					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)			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						AATCCAGGGAGGGAGAGTCTT	0.418																																						ENST00000264276.6	1.000000	0.650000	1	7.800000e-01	0.930000	0.906697	0.930000	1.000000																										0				72						c.(1450-1452)Ctc>Atc		amyotrophic lateral sclerosis 2 (juvenile)							170.0	156.0	160.0					2																	202622146		1862	4102	5964	SO:0001583	missense	57679	0	0					g.chr2:202622146G>T	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.1450C>A	chr2.hg19:g.202622146G>T	ENSP00000264276:p.Leu484Ile	1						p.L484I	NM_020919.3	NP_065970.2	1	2	3	2.111737	Q96Q42	ALS2_HUMAN		5	1822	-			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	1	1	hg19	c.1450C>A	CCDS42800.1	1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835620	0.71373	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.064498	0.64402	D	0.000006	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.986	D;P;P	0.83275	0.996;0.872;0.744	T	0.59064	-0.7524	10	0.29301	T	0.29	.	14.4356	0.67279	0.07:0.0:0.93:0.0	.	484;484;484	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	I	484	ENSP00000264276:L484I	ENSP00000264276:L484I	L	-	1	0	0	ALS2	202330391	202330391	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.789000	0.69029	2.786000	0.95864	0.563000	0.77884	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.505881	1	0.170000	NM_020919			32	32		410	406	0		1	1		0	0	84	0		1	7.188802e-01	0	4	0	29	0	32	410
ALS2	57679	broad.mit.edu	37	2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	298					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)			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						ACAGACTGATCATTTGCTACA	0.458																																						ENST00000264276.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(892-894)Gat>Tat		amyotrophic lateral sclerosis 2 (juvenile)							175.0	165.0	168.0					2																	202625825		2052	4212	6264	SO:0001583	missense	57679	0	0					g.chr2:202625825C>A	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.892G>T	chr2.hg19:g.202625825C>A	ENSP00000264276:p.Asp298Tyr	1					ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y|ALS2_ENST00000496244.1_5'Flank	p.D298Y	NM_020919.3	NP_065970.2	1	2	3	2.111737	Q96Q42	ALS2_HUMAN		4	1264	-			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	1	1	hg19	c.892G>T	CCDS42800.1	1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184637	0.38609	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57907	0.37;0.72	6.17	3.3	0.37823	6.17	3.3	0.37823	.	1.271760	0.05014	N	0.471553	T	0.38772	0.1053	N	0.22421	0.69	0.20873	N	0.999837	P;B;B;B	0.37636	0.603;0.091;0.016;0.0	B;B;B;B	0.33042	0.157;0.029;0.009;0.0	T	0.35425	-0.9789	10	0.66056	D	0.02	.	6.7842	0.23664	0.0:0.6066:0.2313:0.1621	.	298;298;298;298	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	298	ENSP00000264276:D298Y;ENSP00000429223:D298Y	ENSP00000264276:D298Y	D	-	1	0	0	ALS2	202334070	202334070	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.189000	0.32114	0.951000	0.37770	0.655000	0.94253	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-5.552555	1	0.170000	NM_020919			188	182		601	587	1		1	1		0	0	112	0		1	9.999249e-01	0	21	0	25	0	188	601
ALS2	57679	broad.mit.edu	37	2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000467448.1_Missense_Mutation_p.T31P|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	31					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)			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						CTCTCTGGTGTTATGGGAAAG	0.473																																						ENST00000264276.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(91-93)Aca>Cca		amyotrophic lateral sclerosis 2 (juvenile)							103.0	101.0	102.0					2																	202632036		1911	4133	6044	SO:0001583	missense	57679	0	0					g.chr2:202632036T>G	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.91A>C	chr2.hg19:g.202632036T>G	ENSP00000264276:p.Thr31Pro	1					ALS2_ENST00000467448.1_Missense_Mutation_p.T31P|ALS2_ENST00000496244.1_5'UTR	p.T31P	NM_020919.3	NP_065970.2	1	2	3	2.111737	Q96Q42	ALS2_HUMAN		3	463	-			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	1	1	hg19	c.91A>C	CCDS42800.1	1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719253	0.68844	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	6.07	4.92	0.64577	6.07	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.265070	0.42682	D	0.000678	D	0.89076	0.6612	M	0.74258	2.255	0.42157	D	0.99158	D;D;D;P	0.76494	0.999;0.98;0.974;0.944	D;P;P;P	0.69142	0.962;0.731;0.548;0.462	D	0.88998	0.3419	10	0.59425	D	0.04	.	9.9432	0.41593	0.0:0.1356:0.0:0.8644	.	31;31;31;31	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	P	31	ENSP00000264276:T31P;ENSP00000429223:T31P;ENSP00000386384:T31P;ENSP00000386948:T31P	ENSP00000264276:T31P	T	-	1	0	0	ALS2	202340281	202340281	0.931000	0.31567	0.807000	0.32361	0.997000	0.91878	1.289000	0.33307	1.114000	0.41781	0.533000	0.62120	ACA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020919			71	71		176	175	1		1	1		0	0	44	0		1	1	0	42	0	31	0	71	176
CDK15	65061	broad.mit.edu	37	2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T	rs200366047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000374598.4	+	12	1084	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000450471.2_Missense_Mutation_p.D362Y			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498																																						ENST00000374598.4	1.000000	0.500000	1	6.700000e-01	0.880000	0.850863	0.880000	1.000000																										0				26						c.(1084-1086)Gac>Tac		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						64.0	62.0	62.0					2																	202744776		2203	4300	6503	SO:0001583	missense	65061	0	0					g.chr2:202744776G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1084G>T	chr2.hg19:g.202744776G>T	ENSP00000363726:p.Asp362Tyr	1					CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000450471.2_Missense_Mutation_p.D362Y	p.D362Y			1	2	3	2.111737	Q96Q40	CDK15_HUMAN		12	1084	+			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	1	1	hg19	c.1084G>T		1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.055265	0.64402	D	0.000001	T	0.79358	0.4432	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.83988	0.0336	10	0.87932	D	0	-16.011	15.4778	0.75497	0.0677:0.0:0.9323:0.0	.	362	F8W6H8	.	Y	311;311;362;362;362	ENSP00000386901:D311Y;ENSP00000260967:D311Y;ENSP00000406472:D362Y;ENSP00000412775:D362Y;ENSP00000363726:D362Y	ENSP00000260967:D311Y	D	+	1	0	0	CDK15	202453021	202453021	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.404000	0.66344	2.828000	0.97474	0.655000	0.94253	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-18.866610	1	0.170000				15	16		211	207	0		1			0	0	52	0		9.998764e-01	0	0	0	0	0	0	15	211
CDK15	65061	broad.mit.edu	37	2	202744820	202744820	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000374598.4	+	12	1128	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000450471.2_Silent_p.V376V			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547																																						ENST00000374598.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1126-1128)gtC>gtA		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						87.0	77.0	80.0					2																	202744820		2203	4300	6503	SO:0001819	synonymous_variant	65061	0	0					g.chr2:202744820C>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1128C>A	chr2.hg19:g.202744820C>A		1					CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000450471.2_Silent_p.V376V	p.V376V			1	2	3	2.111737	Q96Q40	CDK15_HUMAN		12	1128	+			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	1	1	hg19	c.1128C>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2	1	0	0		17	2	2	0		0	1	53		53	53	1	2.060000	-20.000000	1	0.170000				57	57		212	205	1		1	0		0	0	53	0		9.999999e-01	4.642392e-02	0	0	0	2	0	57	212
FZD7	8324	broad.mit.edu	37	2	202900483	202900483	+	Silent	SNP	C	C	T	rs568883247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	371					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGGGGCCACGAGGCCATCG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.001					ENST00000286201.1	1.000000	0.290000	6.800000e-01	3.800000e-01	0.500000	0.544252	0.500000	0.470000																										0				31						c.(1111-1113)caC>caT		frizzled class receptor 7							66.0	67.0	67.0					2																	202900483		2203	4300	6503	SO:0001819	synonymous_variant	8324	1	121412	32				g.chr2:202900483C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1113C>T	chr2.hg19:g.202900483C>T		1		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133	RP11-107N15.1_ENST00000608741.1_lincRNA	p.H371H	NM_003507.1	NP_003498.1	1	2	3	2.111737	O75084	FZD7_HUMAN		1	1174	+			O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	1	1	hg19	c.1113C>T	CCDS2351.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-15.713330	1	0.170000	NM_003507			16	16		409	399	0		1	1		0	0	70	0		9.999225e-01	7.548699e-01	0	2	0	69	0	16	409
FZD7	8324	broad.mit.edu	37	2	202900639	202900639	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	423					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1267-1269)ggC>ggT		frizzled class receptor 7							81.0	68.0	72.0					2																	202900639		2203	4300	6503	SO:0001819	synonymous_variant	8324	0	0					g.chr2:202900639C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1269C>T	chr2.hg19:g.202900639C>T		1		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133	RP11-107N15.1_ENST00000608741.1_lincRNA	p.G423G	NM_003507.1	NP_003498.1	1	2	3	2.111737	O75084	FZD7_HUMAN		1	1330	+			O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	1	1	hg19	c.1269C>T	CCDS2351.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_003507			126	125		388	383	1		1	1		0	0	82	0		1	9.999999e-01	0	20	0	53	0	126	388
NOP58	51602	broad.mit.edu	37	2	203139885	203139885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203139885T>G	ENST00000264279.5	+	2	321	c.95T>G	c.(94-96)tTt>tGt	p.F32C	SNORD70_ENST00000391007.1_RNA|SNORD70_ENST00000391232.1_RNA|NOP58_ENST00000467734.1_Intron	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	32					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGGAAAGAATTTGAAACTCCA	0.284																																						ENST00000264279.5	1.000000	0.140000	7.400000e-01	2.500000e-01	0.430000	0.492350	0.430000	0.360000																										0				16						c.(94-96)tTt>tGt		NOP58 ribonucleoprotein							36.0	39.0	38.0					2																	203139885		2198	4286	6484	SO:0001583	missense	51602	0	0					g.chr2:203139885T>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.95T>G	chr2.hg19:g.203139885T>G	ENSP00000264279:p.Phe32Cys	1					NOP58_ENST00000467734.1_Intron|SNORD70_ENST00000391007.1_RNA|SNORD70_ENST00000391232.1_RNA	p.F32C	NM_015934.3	NP_057018.1	1	2	3	2.111737	Q9Y2X3	NOP58_HUMAN		2	321	+			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	0	1	hg19	c.95T>G	CCDS2353.1	0	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096477	0.76870	.	.	ENSG00000055044	ENST00000264279	T	0.62941	-0.01	5.06	5.06	0.68205	5.06	5.06	0.68205	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.88640	2.97	0.80722	D	1	P;B	0.46706	0.883;0.228	P;B	0.52823	0.71;0.289	T	0.81929	-0.0708	10	0.59425	D	0.04	1.9211	14.6402	0.68717	0.0:0.0:0.0:1.0	.	32;32	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	C	32	ENSP00000264279:F32C	ENSP00000264279:F32C	F	+	2	0	0	NOP58	202848130	202848130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.017000	0.76399	2.126000	0.65437	0.533000	0.62120	TTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-7.073265	1	0.170000	NM_015934			4	4		133	132	0		1	1		0	0	39	0		8.897761e-01	9.126041e-01	0	8	0	143	0	4	133
NOP58	51602	broad.mit.edu	37	2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	137					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAAATGGCAGCTATGTGTCTT	0.378																																						ENST00000264279.5	1.000000	0.160000	4.400000e-01	2.200000e-01	0.310000	0.374170	0.310000	0.290000																										0				16						c.(409-411)gCt>gTt		NOP58 ribonucleoprotein							126.0	118.0	121.0					2																	203149180		2203	4300	6503	SO:0001583	missense	51602	0	0					g.chr2:203149180C>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.410C>T	chr2.hg19:g.203149180C>T	ENSP00000264279:p.Ala137Val	1					NOP58_ENST00000467734.1_3'UTR	p.A137V	NM_015934.3	NP_057018.1	1	2	3	2.111737	Q9Y2X3	NOP58_HUMAN		5	636	+			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	1	1	hg19	c.410C>T	CCDS2353.1	0	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710497	0.89018	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76328	2.33	0.80722	D	1	D;P	0.54601	0.967;0.648	P;B	0.54346	0.749;0.36	T	0.70189	-0.4940	10	0.35671	T	0.21	-3.5345	19.2052	0.93728	0.0:1.0:0.0:0.0	.	137;137	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	V	137	ENSP00000264279:A137V	ENSP00000264279:A137V	A	+	2	0	0	NOP58	202857425	202857425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.591000	0.87537	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	0	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-2.237180	0	0.170000	NM_015934			12	12		508	499	0		1	1		0	0	93	0		9.990348e-01	8.191981e-01	0	13	0	122	0	12	508
BMPR2	659	broad.mit.edu	37	2	203395674	203395674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374580.4	+	8	1664	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374574.2_Silent_p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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						CAGCCATAAGCGAGGTGAGTG	0.438																																						ENST00000374580.4	1.000000	0.630000	1	8.000000e-01	0.990000	0.928182	0.990000	1.000000																										0				42						c.(1123-1125)agC>agT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							69.0	68.0	68.0					2																	203395674		2203	4300	6503	SO:0001819	synonymous_variant	659	0	0					g.chr2:203395674C>T	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.1125C>T	chr2.hg19:g.203395674C>T		1					BMPR2_ENST00000374574.2_Silent_p.S375S	p.S375S	NM_001204.6	NP_001195.2	1	2	3	2.111737	Q13873	BMPR2_HUMAN		8	1664	+			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	1	1	hg19	c.1125C>T	CCDS33361.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.318820	1	0.170000	NM_001204			19	19		225	213	0		1	1		0	0	54	0		9.999877e-01	9.999080e-01	0	25	0	160	0	19	225
BMPR2	659	broad.mit.edu	37	2	203417590	203417590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203417590C>T	ENST00000374580.4	+	11	2104	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	522					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)			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						AATCCAATGTCTACTGCTATG	0.418																																						ENST00000374580.4	1.000000	0.140000	4.500000e-01	2.000000e-01	0.290000	0.364451	0.290000	0.270000																										0				42						c.(1564-1566)tCt>tTt		bone morphogenetic protein receptor, type II (serine/threonine kinase)							108.0	98.0	102.0					2																	203417590		2203	4300	6503	SO:0001583	missense	659	0	0					g.chr2:203417590C>T	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.1565C>T	chr2.hg19:g.203417590C>T	ENSP00000363708:p.Ser522Phe	1					BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	p.S522F	NM_001204.6	NP_001195.2	1	2	3	2.111737	Q13873	BMPR2_HUMAN		11	2104	+			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	0	1	hg19	c.1565C>T	CCDS33361.1	0	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922814	0.73213	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89746	-2.56;-2.47	5.48	4.6	0.57074	5.48	4.6	0.57074	.	0.345366	0.34802	N	0.003680	D	0.88355	0.6414	L	0.27053	0.805	0.43007	D	0.994533	P;D	0.60160	0.917;0.987	P;P	0.56216	0.603;0.794	D	0.89690	0.3897	10	0.66056	D	0.02	.	14.4135	0.67132	0.0:0.9286:0.0:0.0714	.	522;522	Q13161;Q13873	.;BMPR2_HUMAN	F	522	ENSP00000363708:S522F;ENSP00000363702:S522F	ENSP00000363702:S522F	S	+	2	0	0	BMPR2	203125835	203125835	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	5.706000	0.68362	1.308000	0.44962	0.491000	0.48974	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.320721	1	0.170000	NM_001204			9	9		404	393	0		1	1		0	0	83	0		9.935905e-01	9.004455e-01	0	2	0	183	0	9	404
BMPR2	659	broad.mit.edu	37	2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374580.4	+	12	3001	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	821					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)			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						TCCCATGCTGCCACAACCCAA	0.458																																						ENST00000374580.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2461-2463)gCc>gTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							83.0	74.0	77.0					2																	203420850		2203	4300	6503	SO:0001583	missense	659	0	0					g.chr2:203420850C>T	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.2462C>T	chr2.hg19:g.203420850C>T	ENSP00000363708:p.Ala821Val	1					BMPR2_ENST00000374574.2_Intron	p.A821V	NM_001204.6	NP_001195.2	1	2	3	2.111737	Q13873	BMPR2_HUMAN		12	3001	+			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	1	1	hg19	c.2462C>T	CCDS33361.1	1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269427	0.40095	.	.	ENSG00000204217	ENST00000374580	D	0.89485	-2.52	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.329198	0.36778	N	0.002408	T	0.79511	0.4458	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73506	-0.3961	10	0.45353	T	0.12	.	10.7522	0.46216	0.0:0.7854:0.1427:0.0719	.	821	Q13873	BMPR2_HUMAN	V	821	ENSP00000363708:A821V	ENSP00000363708:A821V	A	+	2	0	0	BMPR2	203129095	203129095	0.784000	0.28713	1.000000	0.80357	0.986000	0.74619	1.333000	0.33816	2.836000	0.97738	0.655000	0.94253	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001204			58	56		277	274	1		1	1		0	0	66	0		1	1	0	33	0	133	0	58	277
BMPR2	659	broad.mit.edu	37	2	203424527	203424527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203424527C>T	ENST00000374580.4	+	13	3514	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	992					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)			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						TGGGTCATCTCCACTGAATCG	0.483																																						ENST00000374580.4	1.000000	0.310000	8.300000e-01	4.300000e-01	0.590000	0.628174	0.590000	0.550000																										0				42						c.(2974-2976)tCc>tTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							94.0	85.0	88.0					2																	203424527		2203	4300	6503	SO:0001583	missense	659	0	0					g.chr2:203424527C>T	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.2975C>T	chr2.hg19:g.203424527C>T	ENSP00000363708:p.Ser992Phe	1					BMPR2_ENST00000374574.2_3'UTR	p.S992F	NM_001204.6	NP_001195.2	1	2	3	2.111737	Q13873	BMPR2_HUMAN		13	3514	+			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	1	1	hg19	c.2975C>T	CCDS33361.1	0	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574230	0.65878	.	.	ENSG00000204217	ENST00000374580	D	0.91894	-2.93	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.100576	0.64402	D	0.000001	D	0.88470	0.6445	L	0.27053	0.805	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	D	0.89783	0.3962	10	0.87932	D	0	.	19.7342	0.96195	0.0:1.0:0.0:0.0	.	992	Q13873	BMPR2_HUMAN	F	992	ENSP00000363708:S992F	ENSP00000363708:S992F	S	+	2	0	0	BMPR2	203132772	203132772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.686000	0.91538	0.650000	0.86243	TCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-13.620100	1	0.170000	NM_001204			12	12		260	257	0		1	1		0	0	47	0		9.991159e-01	9.945957e-01	0	18	0	176	0	12	260
NBEAL1	65065	broad.mit.edu	37	2	204016309	204016309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1833										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						GAGAGATAATCTGGGTGAGTT	0.358																																						ENST00000449802.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				37						c.(5497-5499)Ctg>Ttg		neurobeachin-like 1							74.0	69.0	70.0					2																	204016309		1856	4108	5964	SO:0001819	synonymous_variant	65065	1	120812	32				g.chr2:204016309C>T	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.5497C>T	chr2.hg19:g.204016309C>T		1						p.L1833L	NM_001114132.1	NP_001107604.1	1	2	3	2.111737	Q6ZS30	NBEL1_HUMAN		34	5830	+			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	1	1	hg19	c.5497C>T	CCDS46495.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-14.883860	1	0.170000				34	34		233	225	1		1	1		0	0	45	0		1	7.670839e-01	0	5	0	16	0	34	233
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000254351.4	-	2	379	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000381150.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	45					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)			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)		CACCTGAGCCGGAGAAGTTGT	0.532																																						ENST00000254351.4	1.000000	0.960000	1	9.900000e-01	0.990000	0.997884	0.990000	1.000000																										0				21						c.(133-135)tcC>tcT		syndecan 1							89.0	91.0	90.0					2																	20405117		2203	4300	6503	SO:0001819	synonymous_variant	6382	3	121412	40				g.chr2:20405117G>A	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.135C>T	chr2.hg19:g.20405117G>A		1					SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000381150.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR	p.S45S	NM_002997.4	NP_002988	1	2	3	2.183349	P18827	SDC1_HUMAN		2	379	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	1	1	hg19	c.135C>T	CCDS1697.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-2.429492	0	0.170000	NM_001006946			71	69		673	666	0		1	1		0	0	142	0		1	1	0	100	0	604	0	71	673
NBEAL1	65065	broad.mit.edu	37	2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1943										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						AGAGATTCATCTCCGGCGTTA	0.363																																						ENST00000449802.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(5827-5829)Ctc>Atc		neurobeachin-like 1							129.0	118.0	121.0					2																	204032000		1813	4084	5897	SO:0001583	missense	65065	0	0					g.chr2:204032000C>A	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.5827C>A	chr2.hg19:g.204032000C>A	ENSP00000399903:p.Leu1943Ile	1						p.L1943I	NM_001114132.1	NP_001107604.1	1	2	3	2.111737	Q6ZS30	NBEL1_HUMAN		37	6160	+			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	1	1	hg19	c.5827C>A	CCDS46495.1	1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734574	0.69189	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56275	0.47	5.29	-1.69	0.08186	5.29	-1.69	0.08186	PH-BEACH domain (1);	0.144540	0.46758	D	0.000266	T	0.67268	0.2875	M	0.81497	2.545	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.66200	-0.5983	10	0.26408	T	0.33	.	12.7381	0.57236	0.0:0.2437:0.0:0.7563	.	1943;1932	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	1943	ENSP00000399903:L1943I	ENSP00000344985:L1943I	L	+	1	0	0	NBEAL1	203740245	203740245	0.839000	0.29477	0.359000	0.25824	0.897000	0.52465	0.416000	0.21198	-0.285000	0.09089	0.563000	0.77884	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				95	93		482	479	1		1	1		0	0	96	0		1	9.814551e-01	0	6	0	28	0	95	482
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I|CYP20A1_ENST00000461371.1_Intron	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral component of membrane (GO:0016021)|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.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428																																						ENST00000356079.4	1.000000	0.110000	2.600000e-01	1.400000e-01	0.190000	0.266650	0.190000	0.180000																										1	Substitution - Missense(1)	p.R64I(1)	lung(1)	11						c.(190-192)aGa>aTa		cytochrome P450, family 20, subfamily A, polypeptide 1							306.0	291.0	296.0					2																	204111546		2203	4300	6503	SO:0001583	missense	57404	0	0					g.chr2:204111546G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.191G>T	chr2.hg19:g.204111546G>T	ENSP00000348380:p.Arg64Ile	1					CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	p.R64I	NM_177538.2	NP_803882.1	1	2	3	2.111737	Q6UW02	CP20A_HUMAN		3	314	+			Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	0	1	hg19	c.191G>T	CCDS2357.1	0	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939281	0.73557	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.36	4.49	0.54785	5.36	4.49	0.54785	.	0.285799	0.39210	N	0.001432	T	0.68622	0.3021	L	0.47716	1.5	0.36984	D	0.89446	D;P	0.55800	0.973;0.769	P;P	0.54815	0.761;0.544	T	0.75124	-0.3428	10	0.87932	D	0	-7.0928	9.1118	0.36732	0.2098:0.0:0.7902:0.0	.	64;64	E9PHG5;Q6UW02	.;CP20A_HUMAN	I	64	ENSP00000348380:R64I;ENSP00000407860:R64I;ENSP00000411341:R64I	ENSP00000348380:R64I	R	+	2	0	0	CYP20A1	203819791	203819791	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	4.114000	0.57858	1.285000	0.44548	-0.213000	0.12676	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	0	0	1		2	2	2	0		0	0	179		179	176	1	2.060000	-2.879631	1	0.170000	NM_020674			18	18		1209	1174	0		1	0		0	0	179	0		9.999754e-01	1.607789e-01	0	0	0	46	0	18	1209
CYP20A1	57404	broad.mit.edu	37	2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000356079.4	+	5	632	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	170						integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433																																						ENST00000356079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(508-510)gGt>gAt		cytochrome P450, family 20, subfamily A, polypeptide 1							139.0	131.0	134.0					2																	204131313		2203	4300	6503	SO:0001583	missense	57404	0	0					g.chr2:204131313G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.509G>A	chr2.hg19:g.204131313G>A	ENSP00000348380:p.Gly170Asp	1					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D	p.G170D	NM_177538.2	NP_803882.1	1	2	3	2.111737	Q6UW02	CP20A_HUMAN		5	632	+			Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	1	1	hg19	c.509G>A	CCDS2357.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504620	0.85176	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.168452	0.51477	D	0.000082	T	0.75474	0.3854	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.62365	0.991;0.732	P;B	0.61070	0.883;0.377	T	0.75485	-0.3301	10	0.45353	T	0.12	-13.052	18.708	0.91645	0.0:0.0:1.0:0.0	.	170;170	E9PHG5;Q6UW02	.;CP20A_HUMAN	D	170	ENSP00000348380:G170D;ENSP00000407860:G170D;ENSP00000411341:G170D	ENSP00000348380:G170D	G	+	2	0	0	CYP20A1	203839558	203839558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.123000	0.89586	2.383000	0.81215	0.650000	0.86243	GGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_020674			191	185		531	512	1		1	1		0	0	127	0		1	9.999288e-01	0	17	0	23	0	191	531
CYP20A1	57404	broad.mit.edu	37	2	204156990	204156990	+	Silent	SNP	C	C	T	rs149090400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000356079.4	+	11	1212	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP20A1_ENST00000429815.2_Silent_p.L371L|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	363						integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.0		0.0	False		,,,				2504	0.001					ENST00000356079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1087-1089)ctC>ctT		cytochrome P450, family 20, subfamily A, polypeptide 1		C		2,4404	4.2+/-10.8	0,2,2201	174.0	165.0	168.0		1089	-1.8	1.0	2	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	CYP20A1	NM_177538.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		363/463	204156990	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57404	5	121412	41				g.chr2:204156990C>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1089C>T	chr2.hg19:g.204156990C>T		1					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.L371L	p.L363L	NM_177538.2	NP_803882.1	1	2	3	2.111737	Q6UW02	CP20A_HUMAN		11	1212	+			Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	1	1	hg19	c.1089C>T	CCDS2357.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.221885	1	0.170000	NM_020674			92	89		596	584	1		1	1		0	0	93	0		1	9.985469e-01	0	17	0	46	0	92	596
ABI2	10152	broad.mit.edu	37	2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000261016.6	+	2	346	c.15C>A	c.(13-15)tgC>tgA	p.C5*	ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000430418.1_Missense_Mutation_p.L76M			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					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)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGCAGATGCTGGATATCCA	0.443																																						ENST00000261016.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(13-15)tgC>tgA		abl-interactor 2							130.0	112.0	118.0					2																	204231708		2203	4300	6503	SO:0001587	stop_gained	10152	0	0					g.chr2:204231708C>A	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	ENST00000261016.6:c.15C>A	chr2.hg19:g.204231708C>A	ENSP00000261016:p.Cys5*	1					ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M	p.C5*			1	2	3	2.111737	Q9NYB9	ABI2_HUMAN		2	346	+			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Nonsense_Mutation	SNP	ENST00000261016.6	0	0	hg19	c.15C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715171|4.715171	0.89112|0.89112	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000261016|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.42|5.42	3.29|3.29	0.37713|0.37713	5.42|5.42	3.29|3.29	0.37713|0.37713	.|Target SNARE coiled-coil domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93746	.|0.8001	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.988;0.971	.|D;P;D	.|0.70716	.|0.965;0.864;0.97	.|D	.|0.92531	.|0.6033	.|10	0.45353|0.42905	T|T	0.12|0.14	-8.6106|-8.6106	10.4872|10.4872	0.44729|0.44729	0.0:0.7672:0.0:0.2328|0.0:0.7672:0.0:0.2328	.|.	.|76;76;76	.|Q9NYB9-4;Q9NYB9;Q9NYB9-2	.|.;ABI2_HUMAN;.	X|M	5|76	.|ENSP00000295851:L76M;ENSP00000261017:L76M;ENSP00000408898:L76M;ENSP00000391433:L76M;ENSP00000414703:L76M;ENSP00000396249:L76M	ENSP00000261016:C5X|ENSP00000261017:L76M	C|L	+|+	3|1	2|2	2|2	ABI2|ABI2	203939953|203939953	203939953|203939953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.708000|2.708000	0.47152|0.47152	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	TGC|CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ABI2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005759			61	60		261	258	1		1	1		0	0	51	0		1	9.999987e-01	0	26	0	62	0	61	261
RAPH1	65059	broad.mit.edu	37	2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				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						CTTTGCAATGCGGATCCCATT	0.373																																						ENST00000319170.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1501-1503)cGc>cAc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							162.0	145.0	151.0					2																	204313471		2203	4300	6503	SO:0001583	missense	65059	0	0					g.chr2:204313471C>T	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.1502G>A	chr2.hg19:g.204313471C>T	ENSP00000316543:p.Arg501His	1					RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H	p.R501H	NM_213589.1	NP_998754.1	1	2	3	2.111737	Q70E73	RAPH1_HUMAN		11	1801	-			Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	1	1	hg19	c.1502G>A	CCDS2359.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029621	0.93518	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.2	5.2	0.72013	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000930	D	0.88819	0.6540	M	0.88450	2.955	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	0.90902	0.4769	10	0.87932	D	0	-13.2136	18.7336	0.91746	0.0:1.0:0.0:0.0	.	553;553;501	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	H	501;501;553;528;526;553;526;501;528;553;526;501;528	ENSP00000392854:R501H;ENSP00000316543:R501H;ENSP00000363617:R553H;ENSP00000363613:R528H;ENSP00000363612:R526H;ENSP00000311293:R553H;ENSP00000411138:R526H;ENSP00000390578:R501H;ENSP00000397751:R528H;ENSP00000406662:R553H;ENSP00000396711:R501H	ENSP00000311293:R553H	R	-	2	0	0	RAPH1	204021716	204021716	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.427000	0.82271	0.467000	0.42956	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-4.320786	1	0.170000	NM_025252			96	98		332	325	1		1	1		0	0	77	0		1	9.999961e-01	0	25	0	40	0	96	332
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	rs541215148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				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						CCAGATGCTCGCAAGAGAAAA	0.383																																						ENST00000319170.5	1.000000	0.140000	3.500000e-01	1.900000e-01	0.250000	0.323184	0.250000	0.240000																										0				32						c.(1261-1263)Cga>Tga		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							146.0	146.0	146.0					2																	204320201		2203	4300	6503	SO:0001587	stop_gained	65059	0	0					g.chr2:204320201G>A	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.1261C>T	chr2.hg19:g.204320201G>A	ENSP00000316543:p.Arg421*	1					RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*	p.R421*	NM_213589.1	NP_998754.1	1	2	3	2.111737	Q70E73	RAPH1_HUMAN		9	1560	-			Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	0	1	hg19	c.1261C>T	CCDS2359.1	0	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	2	RAPH1	204028446	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	0	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-2.266641	0	0.170000	NM_025252			15	17		767	751	0		1	0		0	0	129	0		9.998515e-01	5.201654e-01	0	0	0	87	0	15	767
PUM2	23369	broad.mit.edu	37	2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000361078.2	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000420234.1_Intron|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	171	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)			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)					TTACTTAAAATCTTTGCAATC	0.323																																						ENST00000361078.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998993	0.990000	1.000000																										0				42						c.(511-513)gAt>gCt		pumilio RNA-binding family member 2							93.0	92.0	93.0					2																	20511261		2203	4300	6503	SO:0001583	missense	23369	0	0					g.chr2:20511261T>G	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.512A>C	chr2.hg19:g.20511261T>G	ENSP00000354370:p.Asp171Ala	1					PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A	p.D171A			1	2	3	2.183349	Q8TB72	PUM2_HUMAN		4	534	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	1	1	hg19	c.512A>C		1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672316	0.88348	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21361	2.3;2.57;2.52;2.01;2.3;2.27	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.041485	0.85682	D	0.000000	T	0.41534	0.1163	L	0.58101	1.795	0.80722	D	1	P;B;D	0.65815	0.944;0.295;0.995	P;B;P	0.62014	0.698;0.091;0.897	T	0.19712	-1.0297	10	0.62326	D	0.03	-6.8791	16.2055	0.82126	0.0:0.0:0.0:1.0	.	115;171;171	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	171;171;171;62;171;115;171	ENSP00000338173:D171A;ENSP00000354370:D171A;ENSP00000326746:D171A;ENSP00000409905:D62A;ENSP00000385992:D171A;ENSP00000440093:D115A	ENSP00000326746:D171A	D	-	2	0	0	PUM2	20374742	20374742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.220000	0.72140	0.533000	0.62120	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_015317			28	27		209	203	1		1	1		0	0	38	0		1	9.999958e-01	0	35	0	116	0	28	209
CTLA4	1493	broad.mit.edu	37	2	204737463	204737463	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000302823.3	+	4	757	c.600C>A	c.(598-600)gtC>gtA	p.V200V	CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000427473.2_Missense_Mutation_p.L127I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	200					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)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CAACAGGGGTCTATGTGAAAA	0.378																																						ENST00000302823.3	1.000000	0.800000	1	9.500000e-01	0.990000	0.979268	0.990000	1.000000																										0				9						c.(598-600)gtC>gtA		cytotoxic T-lymphocyte-associated protein 4	Ipilimumab(DB06186)						94.0	95.0	95.0					2																	204737463		2203	4300	6503	SO:0001819	synonymous_variant	1493	0	0					g.chr2:204737463C>A		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.600C>A	chr2.hg19:g.204737463C>A		1					CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000427473.2_Missense_Mutation_p.L127I	p.V200V	NM_005214.4	NP_005205.2	1	2	3	2.111737	P16410	CTLA4_HUMAN		4	757	+			A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Silent	SNP	ENST00000302823.3	1	1	hg19	c.600C>A	CCDS2362.1	1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062914	0.55432	.	.	ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473	T;T	0.50277	0.75;1.48	5.72	4.82	0.62117	5.72	4.82	0.62117	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.25026	N	0.991305	P	0.41041	0.736	B	0.38500	0.275	T	0.37384	-0.9708	8	0.87932	D	0	0.2161	13.2854	0.60241	0.1584:0.8416:0.0:0.0	.	69	P16410-4	.	I	164;69;127	ENSP00000295854:L164I;ENSP00000417779:L69I	ENSP00000295854:L164I	L	+	1	2	2	CTLA4	204445708	204445708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.129000	0.42055	1.354000	0.45846	0.561000	0.74099	CTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.920854	1	0.170000	NM_005214			33	33		340	334	0		1	0		0	0	61	0		1	6.866262e-01	0	0	0	26	0	33	340
PARD3B	117583	broad.mit.edu	37	2	205983693	205983693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	243	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333																																						ENST00000406610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(727-729)aaG>aaA		par-3 family cell polarity regulator beta							90.0	88.0	89.0					2																	205983693		1856	4097	5953	SO:0001819	synonymous_variant	117583	0	0					g.chr2:205983693G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.729G>A	chr2.hg19:g.205983693G>A		1					PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K	p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	1	2	3	2.111737	Q8TEW8	PAR3L_HUMAN		7	936	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	1	1	hg19	c.729G>A		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_057177			70	69		336	330	1		1	1		0	0	78	0		1	9.872359e-01	0	4	0	31	0	70	336
PARD3B	117583	broad.mit.edu	37	2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	724					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393																																						ENST00000406610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.A662V(1)|p.A724V(1)|p.A663V(1)	endometrium(3)	65						c.(2170-2172)gCt>gTt		par-3 family cell polarity regulator beta							154.0	146.0	149.0					2																	206110532		1829	4086	5915	SO:0001583	missense	117583	0	0					g.chr2:206110532C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2171C>T	chr2.hg19:g.206110532C>T	ENSP00000385848:p.Ala724Val	1					PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V	p.A724V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	1	2	3	2.111737	Q8TEW8	PAR3L_HUMAN		16	2378	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	1	1	hg19	c.2171C>T		1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603768	0.28534	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.31247	1.54;1.54;1.5;1.54	5.85	4.97	0.65823	5.85	4.97	0.65823	.	0.164519	0.40728	N	0.001039	T	0.24236	0.0587	L	0.39633	1.23	0.35627	D	0.80992	P;B;B;P;B	0.39181	0.663;0.282;0.063;0.532;0.007	B;B;B;B;B	0.35607	0.206;0.102;0.026;0.175;0.013	T	0.21895	-1.0232	10	0.30854	T	0.27	.	12.6935	0.56990	0.0:0.9246:0.0:0.0754	.	724;724;724;662;724	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	724;662;724;724	ENSP00000385848:A724V;ENSP00000351618:A662V;ENSP00000317261:A724V;ENSP00000340280:A724V	ENSP00000340280:A724V	A	+	2	0	0	PARD3B	205818777	205818777	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.570000	0.45981	2.768000	0.95171	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_057177			107	105		310	306	1		1	1		0	0	69	0		1	9.999863e-01	0	9	0	41	0	107	310
PARD3B	117583	broad.mit.edu	37	2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	753					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532																																						ENST00000406610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(2257-2259)gCa>gTa		par-3 family cell polarity regulator beta							98.0	98.0	98.0					2																	206165326		1904	4134	6038	SO:0001583	missense	117583	0	0					g.chr2:206165326C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2258C>T	chr2.hg19:g.206165326C>T	ENSP00000385848:p.Ala753Val	1					PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V	p.A753V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	1	2	3	2.111737	Q8TEW8	PAR3L_HUMAN		17	2465	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	1	1	hg19	c.2258C>T		1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704456	0.88924	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.34472	1.36;1.36;1.36	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.62233	0.2411	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.59643	-0.7416	10	0.46703	T	0.11	.	19.9376	0.97146	0.0:1.0:0.0:0.0	.	753;691;753	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	753;691;753	ENSP00000385848:A753V;ENSP00000351618:A691V;ENSP00000340280:A753V	ENSP00000340280:A753V	A	+	2	0	0	PARD3B	205873571	205873571	1.000000	0.71417	0.182000	0.23118	0.772000	0.43724	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_057177			121	118		618	612	1		1	0		0	0	115	0		1	9.860333e-01	0	0	0	36	0	121	618
PARD3B	117583	broad.mit.edu	37	2	206166414	206166414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	873	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433																																						ENST00000406610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(2617-2619)ggC>ggT		par-3 family cell polarity regulator beta							49.0	50.0	50.0					2																	206166414		1880	4100	5980	SO:0001819	synonymous_variant	117583	0	0					g.chr2:206166414C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2619C>T	chr2.hg19:g.206166414C>T		1					PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G	p.G873G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	1	2	3	2.111737	Q8TEW8	PAR3L_HUMAN		18	2826	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	1	1	hg19	c.2619C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.488731	1	0.170000	NM_057177			51	49		221	214	1		1	1		0	0	59	0		1	9.999909e-01	0	7	0	71	0	51	221
NRP2	8828	broad.mit.edu	37	2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000357785.5	+	6	890	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000360409.3_Missense_Mutation_p.R287W			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						GGAGTCTGGCCGGATTGCTAA	0.547																																						ENST00000357785.5	1.000000	0.650000	1	8.100000e-01	0.990000	0.928792	0.990000	1.000000																										0				52						c.(859-861)Cgg>Tgg		neuropilin 2							139.0	116.0	124.0					2																	206590675		2203	4300	6503	SO:0001583	missense	8828	1	121412	34				g.chr2:206590675C>T	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.859C>T	chr2.hg19:g.206590675C>T	ENSP00000350432:p.Arg287Trp	1					NRP2_ENST00000360409.3_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W	p.R287W			1	2	3	2.111737	Q99435	NELL2_HUMAN		6	890	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	1	1	hg19	c.859C>T	CCDS46496.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650759	0.67472	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	6.07	1.69	0.24217	6.07	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.047005	0.85682	D	0.000000	D	0.97294	0.9115	L	0.56124	1.755	0.51012	D	0.999905	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	0.74023	0.963;0.963;0.982;0.98;0.98;0.919	D	0.96444	0.9329	10	0.66056	D	0.02	-15.2974	12.0479	0.53491	0.3823:0.5536:0.0:0.064	.	287;287;287;287;287;287	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	W	287	ENSP00000353582:R287W;ENSP00000439658:R287W;ENSP00000439261:R287W;ENSP00000347238:R287W;ENSP00000387519:R287W;ENSP00000349632:R287W;ENSP00000350432:R287W;ENSP00000407626:R287W;ENSP00000272849:R287W	ENSP00000272849:R287W	R	+	1	2	2	NRP2	206298920	206298920	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.166000	0.31834	0.387000	0.25024	-0.136000	0.14681	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.806912	1	0.170000				25	24		301	301	0		1	1		0	0	66	0		9.999999e-01	9.999916e-01	0	21	0	208	0	25	301
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000357785.5	+	7	1051	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000360409.3_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T340T(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						CCATGCTCACGGCCATCGCAA	0.502																																						ENST00000357785.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T340T(1)	ovary(1)	52						c.(1018-1020)acG>acA		neuropilin 2							95.0	79.0	84.0					2																	206592644		2203	4300	6503	SO:0001819	synonymous_variant	8828	1	121412	30				g.chr2:206592644G>A	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.1020G>A	chr2.hg19:g.206592644G>A		1					NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T	p.T340T			1	2	3	2.111737	Q99435	NELL2_HUMAN		7	1051	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	1	1	hg19	c.1020G>A	CCDS46496.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				37	37		121	116	1		1	1		0	0	34	0		1	1	0	80	0	169	0	37	121
NRP2	8828	broad.mit.edu	37	2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000357785.5	+	9	1427	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000360409.3_Missense_Mutation_p.R466C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						CAGTGCAGCCCGCCTGGTTAG	0.617																																						ENST00000357785.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1396-1398)Cgc>Tgc		neuropilin 2							67.0	78.0	74.0					2																	206608031		2203	4300	6503	SO:0001583	missense	8828	2	121410	37				g.chr2:206608031C>T	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.1396C>T	chr2.hg19:g.206608031C>T	ENSP00000350432:p.Arg466Cys	1					NRP2_ENST00000360409.3_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C	p.R466C			1	2	3	2.111737	Q99435	NELL2_HUMAN		9	1427	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	1	1	hg19	c.1396C>T	CCDS46496.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432000	0.83776	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;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;-4.99	5.96	5.96	0.96718	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95850	3.73	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	0.98619	1.0666	10	0.87932	D	0	-30.6319	20.3928	0.98949	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	466	ENSP00000353582:R466C;ENSP00000439658:R466C;ENSP00000439261:R466C;ENSP00000347238:R466C;ENSP00000387519:R466C;ENSP00000349632:R466C;ENSP00000350432:R466C;ENSP00000407626:R466C;ENSP00000272849:R466C	ENSP00000272849:R466C	R	+	1	0	0	NRP2	206316276	206316276	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.910000	0.56371	2.813000	0.96785	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1		2	2	2	0		0	0	169		169	160	1	2.060000	-7.107024	1	0.170000				287	286		875	853	1		1	1		0	0	169	0		1	1	0	66	0	199	0	287	875
NRP2	8828	broad.mit.edu	37	2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						CAAGAAGACCGATCACTCCAT	0.632											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357118.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2599-2601)Gat>Aat		neuropilin 2							109.0	95.0	100.0					2																	206641143		2203	4300	6503	SO:0001583	missense	8828	0	0					g.chr2:206641143G>A	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	ENST00000357118.4:c.2599G>A	chr2.hg19:g.206641143G>A	ENSP00000349632:p.Asp867Asn	1		OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000412873.2_Intron	p.D867N	NM_201267.1	NP_957719	1	2	3	2.111737	Q99435	NELL2_HUMAN		16	2630	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357118.4	1	1	hg19	c.2599G>A	CCDS46498.1	1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818869	0.71028	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.87571	-2.26;-2.27	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	D	0.85656	0.5747	.	.	.	0.80722	D	1	B;B	0.27765	0.188;0.188	B;B	0.26693	0.072;0.072	D	0.83503	0.0076	8	0.66056	D	0.02	.	19.5306	0.95228	0.0:0.0:1.0:0.0	.	867;872	O60462-4;O60462-5	.;.	N	867;872	ENSP00000349632:D867N;ENSP00000272849:D872N	ENSP00000272849:D872N	D	+	1	0	0	NRP2	206349388	206349388	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.299000	0.65716	2.609000	0.88269	0.561000	0.74099	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1	1	0	1		2	2	2	0		0	0	159		159	156	1	2.060000	-20.000000	1	0.170000				155	155		728	717	1		1	1		0	0	159	0		1	9.999927e-01	0	9	0	70	0	155	728
NRP2	8828	broad.mit.edu	37	2	206657010	206657010	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	ENST00000357785.5	+	16	2507		c.e16+1		NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000360409.3_Splice_Site			Q99435	NELL2_HUMAN	neuropilin 2							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						GAAATTGATGGTGAGTACTGT	0.333																																						ENST00000357785.5	1.000000	0.140000	4.300000e-01	2.000000e-01	0.290000	0.360234	0.290000	0.270000																										0				52						c.e16+1		neuropilin 2							159.0	166.0	164.0					2																	206657010		2203	4300	6503	SO:0001630	splice_region_variant	8828	0	0					g.chr2:206657010G>A	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.2476+1G>A	chr2.hg19:g.206657010G>A		1					NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000412873.2_Intron				1	2	3	2.111737	Q99435	NELL2_HUMAN		16	2507	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	ENST00000357785.5	0	1	hg19		CCDS46496.1	0	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787777	0.70337	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NRP2	206365255	206365255	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.542000	0.53625	2.941000	0.99782	0.655000	0.94253	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.307563	1	0.170000		Intron		10	11		452	439	0		1	1		0	0	93	0		9.965126e-01	1.165736e-02	0	6	0	1	0	10	452
NRP2	8828	broad.mit.edu	37	2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000357785.5	+	17	2556	c.2525C>A	c.(2524-2526)tCt>tAt	p.S842Y	NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000360409.3_Missense_Mutation_p.S847Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						ACCTCAGGGTCTGGCGCCCCC	0.542																																						ENST00000357785.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2524-2526)tCt>tAt		neuropilin 2							86.0	81.0	82.0					2																	206659526		2203	4300	6503	SO:0001583	missense	8828	0	0					g.chr2:206659526C>A	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.2525C>A	chr2.hg19:g.206659526C>A	ENSP00000350432:p.Ser842Tyr	1					NRP2_ENST00000360409.3_Missense_Mutation_p.S847Y|NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y	p.S842Y			1	2	3	2.111737	Q99435	NELL2_HUMAN		17	2556	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	1	1	hg19	c.2525C>A	CCDS46496.1	1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630746	0.14322	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.2;-2.22;-2.29;-2.26;-2.33	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.331275	0.31624	N	0.007325	T	0.75384	0.3842	N	0.08118	0	0.49915	D	0.999834	P;B;B	0.39282	0.666;0.205;0.14	B;B;B	0.36608	0.229;0.107;0.197	T	0.79274	-0.1871	10	0.59425	D	0.04	-6.0122	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	825;842;847	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	847;842;825;842;825	ENSP00000353582:S847Y;ENSP00000439658:S842Y;ENSP00000439261:S825Y;ENSP00000350432:S842Y;ENSP00000407626:S825Y	ENSP00000350432:S842Y	S	+	2	0	0	NRP2	206367771	206367771	0.915000	0.31059	0.406000	0.26421	0.046000	0.14306	2.831000	0.48144	2.826000	0.97356	0.655000	0.94253	TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000				114	113		501	494	1		1	1		0	0	89	0		1	1	0	31	0	182	0	114	501
NRP2	8828	broad.mit.edu	37	2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000357785.5	+	17	2664	c.2633G>A	c.(2632-2634)tGt>tAt	p.C878Y	NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000360409.3_Missense_Mutation_p.C883Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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						GGGGCCACCTGTGCAGGCCTC	0.592																																						ENST00000357785.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2632-2634)tGt>tAt		neuropilin 2							99.0	88.0	92.0					2																	206659634		2203	4300	6503	SO:0001583	missense	8828	0	0					g.chr2:206659634G>A	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.2633G>A	chr2.hg19:g.206659634G>A	ENSP00000350432:p.Cys878Tyr	1					NRP2_ENST00000360409.3_Missense_Mutation_p.C883Y|NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y	p.C878Y			1	2	3	2.111737	Q99435	NELL2_HUMAN		17	2664	+			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	1	1	hg19	c.2633G>A	CCDS46496.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123578	0.77436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.94000	-2.98;-2.98;-3.33;-3.03;-3.28	6.17	6.17	0.99709	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.283286	0.45867	D	0.000335	D	0.96445	0.8840	M	0.63843	1.955	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	0.96002	0.8994	10	0.87932	D	0	-20.5075	20.8794	0.99867	0.0:0.0:1.0:0.0	.	861;878;883	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	883;878;861;878;861	ENSP00000353582:C883Y;ENSP00000439658:C878Y;ENSP00000439261:C861Y;ENSP00000350432:C878Y;ENSP00000407626:C861Y	ENSP00000350432:C878Y	C	+	2	0	0	NRP2	206367879	206367879	1.000000	0.71417	0.917000	0.36280	0.669000	0.39330	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1		2	2	2	0		0	0	100		100	95	1	2.060000	-20.000000	1	0.170000				97	97		497	478	1		1	1		0	0	100	0		1	1	0	29	0	129	0	97	497
INO80D	54891	broad.mit.edu	37	2	206869669	206869669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869669G>A	ENST00000403263.1	-	11	2911	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	836					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507																																						ENST00000403263.1	1.000000	0.120000	3.000000e-01	1.600000e-01	0.220000	0.292085	0.220000	0.210000																										0				26						c.(2506-2508)cCg>cTg		INO80 complex subunit D							254.0	241.0	245.0					2																	206869669		2150	4259	6409	SO:0001583	missense	54891	2	121170	37				g.chr2:206869669G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2507C>T	chr2.hg19:g.206869669G>A	ENSP00000384198:p.Pro836Leu	1					Vault_ENST00000516676.1_RNA	p.P836L	NM_017759.4	NP_060229.3	1	2	3	2.111737	Q53TQ3	IN80D_HUMAN		11	2911	-			B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	0	1	hg19	c.2507C>T	CCDS46500.1	0	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525585	0.64860	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.91	5.02	0.67125	5.91	5.02	0.67125	.	0.166320	0.53938	D	0.000043	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.40285	0.325	T	0.04522	-1.0945	10	0.27785	T	0.31	.	17.0934	0.86627	0.0:0.1268:0.8732:0.0	.	836	Q53TQ3-2	.	L	836	ENSP00000384198:P836L	ENSP00000233270:P836L	P	-	2	0	0	INO80D	206577914	206577914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	1.482000	0.48325	-0.175000	0.13238	CCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	0	0	1		2	2	2	0		0	0	175		175	172	1	2.060000	-1.822541	0	0.170000	NM_017759			17	16		999	977	0		1	0		0	0	175	0		9.999563e-01	6.484673e-03	0	0	0	7	0	17	999
INO80D	54891	broad.mit.edu	37	2	206870181	206870181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	665					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542																																						ENST00000403263.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1993-1995)ctC>ctT		INO80 complex subunit D							82.0	75.0	77.0					2																	206870181		1972	4171	6143	SO:0001819	synonymous_variant	54891	4	120906	40				g.chr2:206870181G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1995C>T	chr2.hg19:g.206870181G>A		1					Vault_ENST00000516676.1_RNA	p.L665L	NM_017759.4	NP_060229.3	1	2	3	2.111737	Q53TQ3	IN80D_HUMAN		11	2399	-			B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	1	1	hg19	c.1995C>T	CCDS46500.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.878869	1	0.170000	NM_017759			53	52		241	237	1		1	1		0	0	60	0		1	3.018875e-01	0	2	0	4	0	53	241
NDUFS1	4719	broad.mit.edu	37	2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	132					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)			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						ACCTCCCTGGTCACAAATAGG	0.363																																						ENST00000233190.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(394-396)gAc>gGc		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)							104.0	98.0	100.0					2																	207012502		2203	4300	6503	SO:0001583	missense	4719	0	0					g.chr2:207012502T>C		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.395A>G	chr2.hg19:g.207012502T>C	ENSP00000233190:p.Asp132Gly	1					NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G	p.D132G	NM_005006.6	NP_004997.4	1	2	3	2.111737	P28331	NDUS1_HUMAN		6	661	-			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	1	1	hg19	c.395A>G	CCDS2366.1	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698959	0.88830	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.76	4.76	0.60689	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92268	3.29	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	0.93671	0.6990	10	0.87932	D	0	-15.8477	14.5723	0.68220	0.0:0.0:0.0:1.0	.	21;96;146;132	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	132;75;16;96;146;132;21	ENSP00000233190:D132G;ENSP00000397760:D75G;ENSP00000400976:D16G;ENSP00000409766:D96G;ENSP00000392709:D146G;ENSP00000399912:D132G;ENSP00000409689:D21G	ENSP00000233190:D132G	D	-	2	0	0	NDUFS1	206720747	206720747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.890000	0.54733	0.482000	0.46254	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_005006			156	153		407	395	1		1	1		0	0	113	0		1	1	0	90	0	131	0	156	407
ZDBF2	57683	broad.mit.edu	37	2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	134							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443																																						ENST00000374423.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(400-402)cGa>cAa		zinc finger, DBF-type containing 2							64.0	59.0	60.0					2																	207169653		1891	4120	6011	SO:0001583	missense	57683	0	0					g.chr2:207169653G>A	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.401G>A	chr2.hg19:g.207169653G>A	ENSP00000363545:p.Arg134Gln	1						p.R134Q	NM_020923.1	NP_065974.1	1	2	3	2.111737	Q9HCK1	ZDBF2_HUMAN		5	787	+			Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	1	1	hg19	c.401G>A	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040714	0.75732	.	.	ENSG00000204186	ENST00000374423	T	0.17854	2.25	5.16	4.28	0.50868	5.16	4.28	0.50868	.	0.000000	0.29745	N	0.011318	T	0.25269	0.0614	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.58331	0.837	T	0.14924	-1.0455	10	0.48119	T	0.1	.	3.991	0.09537	0.0872:0.2749:0.4964:0.1415	.	134	Q9HCK1	ZDBF2_HUMAN	Q	134	ENSP00000363545:R134Q	ENSP00000363545:R134Q	R	+	2	0	0	ZDBF2	206877898	206877898	0.012000	0.17670	0.811000	0.32455	0.976000	0.68499	0.947000	0.29082	2.402000	0.81655	0.650000	0.86243	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-6.479365	1	0.170000	NM_020923			51	51		118	117	1		1	0		0	0	26	0		1	7.430712e-01	0	0	0	8	0	51	118
ZDBF2	57683	broad.mit.edu	37	2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	510							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413																																						ENST00000374423.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				95						c.(1528-1530)Caa>Taa		zinc finger, DBF-type containing 2							143.0	133.0	136.0					2																	207170780		1909	4130	6039	SO:0001587	stop_gained	57683	0	0					g.chr2:207170780C>T	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.1528C>T	chr2.hg19:g.207170780C>T	ENSP00000363545:p.Gln510*	1						p.Q510*	NM_020923.1	NP_065974.1	1	2	3	2.111737	Q9HCK1	ZDBF2_HUMAN		5	1914	+			Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	0	1	hg19	c.1528C>T	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.735202	0.96865	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.06	-0.121	0.13535	4.06	-0.121	0.13535	.	1.033700	0.07765	N	0.950725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.6918	0.17833	0.4899:0.4142:0.0:0.0959	.	.	.	.	X	510	.	ENSP00000363545:Q510X	Q	+	1	0	0	ZDBF2	206879025	206879025	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.100000	0.10990	-0.034000	0.13713	0.585000	0.79938	CAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-2.844841	1	0.170000	NM_020923			39	39		236	232	1		1	0		0	0	68	0		1	3.800931e-01	0	0	0	9	0	39	236
ZDBF2	57683	broad.mit.edu	37	2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338																																						ENST00000374423.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				95						c.(3397-3399)Gta>Tta		zinc finger, DBF-type containing 2							58.0	54.0	55.0					2																	207172649		1857	4086	5943	SO:0001583	missense	57683	0	0					g.chr2:207172649G>T	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.3397G>T	chr2.hg19:g.207172649G>T	ENSP00000363545:p.Val1133Leu	1						p.V1133L	NM_020923.1	NP_065974.1	1	2	3	2.111737	Q9HCK1	ZDBF2_HUMAN		5	3783	+			Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	1	1	hg19	c.3397G>T	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706449	0.15239	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.25	-0.683	0.11335	4.25	-0.683	0.11335	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.19257	-1.0311	9	0.16896	T	0.51	.	4.1078	0.10045	0.416:0.1852:0.3989:0.0	.	1133	Q9HCK1	ZDBF2_HUMAN	L	1133	ENSP00000363545:V1133L	ENSP00000363545:V1133L	V	+	1	0	0	ZDBF2	206880894	206880894	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.149000	0.11215	0.650000	0.86243	GTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_020923			28	28		144	142	1		1	0		0	0	22	0		1	7.564935e-02	0	0	0	3	0	28	144
ZDBF2	57683	broad.mit.edu	37	2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A	rs529263608	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1174							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373													G|||	3	0.000599042	0.0	0.0	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0031					ENST00000374423.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(3520-3522)cGa>cAa		zinc finger, DBF-type containing 2							104.0	101.0	102.0					2																	207172773		1888	4106	5994	SO:0001583	missense	57683	26	120814	46				g.chr2:207172773G>A	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.3521G>A	chr2.hg19:g.207172773G>A	ENSP00000363545:p.Arg1174Gln	1						p.R1174Q	NM_020923.1	NP_065974.1	1	2	3	2.111737	Q9HCK1	ZDBF2_HUMAN		5	3907	+			Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	1	1	hg19	c.3521G>A	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258166	0.10239	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.1	0.625	0.17665	4.1	0.625	0.17665	.	.	.	.	.	T	0.13628	0.0330	N	0.02247	-0.625	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.28299	-1.0048	9	0.11794	T	0.64	.	3.4928	0.07644	0.4411:0.3476:0.2114:0.0	.	1174	Q9HCK1	ZDBF2_HUMAN	Q	1174	ENSP00000363545:R1174Q	ENSP00000363545:R1174Q	R	+	2	0	0	ZDBF2	206881018	206881018	0.102000	0.21896	0.081000	0.20488	0.046000	0.14306	0.242000	0.18087	0.089000	0.17243	0.650000	0.86243	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-4.029596	1	0.170000	NM_020923			69	68		322	319	1		1	0		0	0	76	0		1	4.285006e-01	0	0	0	8	0	69	322
ZDBF2	57683	broad.mit.edu	37	2	207175371	207175371	+	Missense_Mutation	SNP	G	G	A	rs572938202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	ENST00000374423.3	+	5	6505	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2040							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGATATTCGGTTTATATGC	0.353																																						ENST00000374423.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.996931	0.990000	1.000000																										0				95						c.(6118-6120)cGg>cAg		zinc finger, DBF-type containing 2							25.0	24.0	24.0					2																	207175371		1824	4075	5899	SO:0001583	missense	57683	2	120750	33				g.chr2:207175371G>A	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.6119G>A	chr2.hg19:g.207175371G>A	ENSP00000363545:p.Arg2040Gln	1						p.R2040Q	NM_020923.1	NP_065974.1	1	2	3	2.111737	Q9HCK1	ZDBF2_HUMAN		5	6505	+			Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	1	1	hg19	c.6119G>A	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063834	0.08388	.	.	ENSG00000204186	ENST00000374423	T	0.41065	1.01	5.79	-10.1	0.00402	5.79	-10.1	0.00402	.	.	.	.	.	T	0.12646	0.0307	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.11485	T	0.65	.	5.8344	0.18599	0.2615:0.1874:0.4593:0.0918	.	2040	Q9HCK1	ZDBF2_HUMAN	Q	2040	ENSP00000363545:R2040Q	ENSP00000363545:R2040Q	R	+	2	0	0	ZDBF2	206883616	206883616	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.302000	0.02746	-2.191000	0.00756	-1.155000	0.01812	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.352871	1	0.170000	NM_020923			12	12		76	76	1		1	0		0	0	23	0		9.993447e-01	2.697473e-01	0	0	0	7	0	12	76
ADAM23	8745	broad.mit.edu	37	2	207424741	207424741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1066-1068)aaG>aaA		ADAM metallopeptidase domain 23							127.0	107.0	114.0					2																	207424741		2203	4300	6503	SO:0001819	synonymous_variant	8745	2	121412	32				g.chr2:207424741G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	chr2.hg19:g.207424741G>A		1					ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	p.K356K	NM_003812.2	NP_003803.1	1	2	3	2.111737	O75077	ADA23_HUMAN		11	1396	+			A2RU59	Silent	SNP	ENST00000264377.3	1	1	hg19	c.1068G>A	CCDS2369.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.143047	1	0.170000	NM_003812			45	45		203	199	1		1	0		0	0	32	0		1	7.840148e-01	0	0	0	15	0	45	203
MDH1B	130752	broad.mit.edu	37	2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000374412.3	-	11	1785	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G|MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	504					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)			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)		AACTCAAGACTCTGTGGCTTT	0.348																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999871	0.990000	1.000000																										0				34						c.(1510-1512)Agt>Ggt		malate dehydrogenase 1B, NAD (soluble)							105.0	103.0	104.0					2																	207604335		2203	4300	6503	SO:0001583	missense	130752	0	0					g.chr2:207604335T>C		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.1510A>G	chr2.hg19:g.207604335T>C	ENSP00000363533:p.Ser504Gly	1					MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G|MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G	p.S504G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	1	2	3	2.111737	Q5I0G3	MDH1B_HUMAN		11	1785	-			A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	1	1	hg19	c.1510A>G	CCDS33365.1	1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965573	0.34659	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34275	1.4;1.37;1.39	3.73	-0.204	0.13200	3.73	-0.204	0.13200	.	0.471361	0.15781	U	0.244910	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.14504	-1.0470	10	0.87932	D	0	.	6.2416	0.20793	0.0:0.3261:0.0:0.6739	.	503;504	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	504;406;503	ENSP00000363533:S504G;ENSP00000416577:S406G;ENSP00000389916:S503G	ENSP00000363533:S504G	S	-	1	0	0	MDH1B	207312580	207312580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.117000	0.11872	-0.509000	0.04479	AGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001039845			29	29		186	185	1		1	0		0	0	32	0		1	1.965924e-02	0	0	0	2	0	29	186
MDH1B	130752	broad.mit.edu	37	2	207620181	207620181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000374412.3	-	5	737	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.G154G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	154					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)			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)		CAAACACTTCGCCACTCGTCA	0.443																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				34						c.(460-462)ggC>ggT		malate dehydrogenase 1B, NAD (soluble)							82.0	75.0	77.0					2																	207620181		2203	4300	6503	SO:0001819	synonymous_variant	130752	0	0					g.chr2:207620181G>A		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.462C>T	chr2.hg19:g.207620181G>A		1					MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000449792.1_Silent_p.G56G	p.G154G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	1	2	3	2.111737	Q5I0G3	MDH1B_HUMAN		5	737	-			A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	1	1	hg19	c.462C>T	CCDS33365.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.222254	1	0.170000	NM_001039845			44	43		287	281	1		1	0		0	0	65	0		1	1.850031e-02	0	0	0	2	0	44	287
FASTKD2	22868	broad.mit.edu	37	2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I|MDH1B_ENST00000374412.3_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	96					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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)		AAGGGCATAAGCACTCTAACA	0.338																																						ENST00000236980.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999585	0.990000	1.000000																										0				21						c.(286-288)aGc>aTc		FAST kinase domains 2							47.0	48.0	48.0					2																	207631704		2202	4300	6502	SO:0001583	missense	22868	0	0					g.chr2:207631704G>T	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.287G>T	chr2.hg19:g.207631704G>T	ENSP00000236980:p.Ser96Ile	1					FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank	p.S96I	NM_014929.3	NP_055744.2	1	2	3	2.111737	Q9NYY8	FAKD2_HUMAN		2	635	+			Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	1	1	hg19	c.287G>T	CCDS2371.1	1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157315	0.21454	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.50548	2.38;0.74;2.38;2.38	4.92	1.03	0.20045	4.92	1.03	0.20045	.	1.697270	0.02974	N	0.144720	T	0.34687	0.0906	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.20306	-1.0279	10	0.49607	T	0.09	0.102	0.461	0.00516	0.2458:0.1419:0.3209:0.2914	.	96;96	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	96	ENSP00000236980:S96I;ENSP00000409927:S96I;ENSP00000385990:S96I;ENSP00000384929:S96I	ENSP00000236980:S96I	S	+	2	0	0	FASTKD2	207339949	207339949	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.093000	0.15086	0.012000	0.14892	0.561000	0.74099	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_014929			22	22		140	137	1		1	1		0	0	33	0		9.999991e-01	9.972327e-01	0	12	0	51	0	22	140
FASTKD2	22868	broad.mit.edu	37	2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V|MDH1B_ENST00000374412.3_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	109					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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)		CTACTTTATGCTAAAAGACTG	0.343																																						ENST00000236980.6	1.000000	0.670000	1	8.800000e-01	0.990000	0.956155	0.990000	1.000000																										0				21						c.(325-327)gCt>gTt		FAST kinase domains 2							41.0	43.0	43.0					2																	207631743		2203	4300	6503	SO:0001583	missense	22868	1	121408	29				g.chr2:207631743C>T	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.326C>T	chr2.hg19:g.207631743C>T	ENSP00000236980:p.Ala109Val	1					FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank	p.A109V	NM_014929.3	NP_055744.2	1	2	3	2.111737	Q9NYY8	FAKD2_HUMAN		2	674	+			Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	1	1	hg19	c.326C>T	CCDS2371.1	1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251448	0.22880	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.48201	2.44;0.82;2.44;2.44	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.870625	0.09920	N	0.738585	T	0.40767	0.1130	L	0.36672	1.1	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.22941	-1.0202	10	0.66056	D	0.02	-5.462	10.885	0.46962	0.0:0.913:0.0:0.087	.	109;109	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	109	ENSP00000236980:A109V;ENSP00000409927:A109V;ENSP00000385990:A109V;ENSP00000384929:A109V	ENSP00000236980:A109V	A	+	2	0	0	FASTKD2	207339988	207339988	0.020000	0.18652	0.626000	0.29213	0.007000	0.05969	0.415000	0.21181	2.639000	0.89480	0.561000	0.74099	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-19.996020	1	0.170000	NM_014929			16	16		169	164	1		1	1		0	0	33	0		9.999326e-01	9.986007e-01	0	16	0	102	0	16	169
FASTKD2	22868	broad.mit.edu	37	2	207636969	207636969	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207636969G>A	ENST00000236980.6	+	6	1527	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	393					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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)		AAGACCTCCAGTACCATAATT	0.343																																						ENST00000236980.6	1.000000	0.180000	5.800000e-01	2.700000e-01	0.390000	0.447585	0.390000	0.360000																										0				21						c.(1177-1179)caG>caA		FAST kinase domains 2							92.0	92.0	92.0					2																	207636969		2203	4300	6503	SO:0001819	synonymous_variant	22868	0	0					g.chr2:207636969G>A	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.1179G>A	chr2.hg19:g.207636969G>A		1					FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	p.Q393Q	NM_014929.3	NP_055744.2	1	2	3	2.111737	Q9NYY8	FAKD2_HUMAN		6	1527	+			Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	0	1	hg19	c.1179G>A	CCDS2371.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-9.781381	1	0.170000	NM_014929			9	9		307	306	0		1	1		0	0	67	0		9.943114e-01	8.466203e-01	0	7	0	111	0	9	307
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T	rs186489901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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)		TATGAAAATGCGGCATTTGAA	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0					ENST00000236980.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				21						c.(1978-1980)Cgg>Tgg		FAST kinase domains 2		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	166.0	166.0		1978,1978,1978	5.0	1.0	2		166	0,8600		0,0,4300	no	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	660/711,660/711,660/711	207655375	1,13005	2203	4300	6503	SO:0001583	missense	22868	3	121412	39				g.chr2:207655375C>T	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.1978C>T	chr2.hg19:g.207655375C>T	ENSP00000236980:p.Arg660Trp	1					FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	p.R660W	NM_014929.3	NP_055744.2	1	2	3	2.111737	Q9NYY8	FAKD2_HUMAN		11	2326	+			Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	1	1	hg19	c.1978C>T	CCDS2371.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.255743	0.80135	2.27E-4	0.0	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.54866	0.55;0.55;0.55	5.96	5.04	0.67666	5.96	5.04	0.67666	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.83118	2.625	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	-5.9807	11.5783	0.50877	0.2574:0.7426:0.0:0.0	.	660	Q9NYY8	FAKD2_HUMAN	W	660	ENSP00000236980:R660W;ENSP00000385990:R660W;ENSP00000384929:R660W	ENSP00000236980:R660W	R	+	1	2	2	FASTKD2	207363620	207363620	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	0.806000	0.27126	2.832000	0.97577	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_014929			85	83		631	621	1		1	1		0	0	136	0		1	9.999999e-01	0	39	0	124	0	85	631
CPO	130749	broad.mit.edu	37	2	207823081	207823081	+	Silent	SNP	C	C	T	rs375384008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGGAATTCACGCCAGAGAAT	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0					ENST00000272852.3	1.000000	0.350000	6.200000e-01	4.200000e-01	0.500000	0.547648	0.500000	0.490000																										0				14						c.(322-324)caC>caT		carboxypeptidase O		C		0,4406		0,0,2203	215.0	203.0	207.0		324	-2.0	1.0	2		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPO	NM_173077.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		108/375	207823081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130749	30	121412	50				g.chr2:207823081C>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.324C>T	chr2.hg19:g.207823081C>T		1						p.H108H	NM_173077.2	NP_775100.1	1	2	3	2.111737	Q8IVL8	CBPO_HUMAN		4	370	+			Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	1	1	hg19	c.324C>T	CCDS2372.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	1	0	1		2	2	2	0		0	0	186		186	186	1	2.060000	-3.953157	1	0.170000	NM_173077			40	40		985	969	0		1			0	0	186	0		1	0	0	0	0	0	0	40	985
CPO	130749	broad.mit.edu	37	2	207824432	207824432	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	150						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTCCAGTTCTTAACATAGATG	0.373																																						ENST00000272852.3	1.000000	0.150000	5.400000e-01	2.300000e-01	0.350000	0.413171	0.350000	0.320000																										0				14						c.(448-450)ctT>ctC		carboxypeptidase O							118.0	111.0	113.0					2																	207824432		2203	4300	6503	SO:0001819	synonymous_variant	130749	0	0					g.chr2:207824432T>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.450T>C	chr2.hg19:g.207824432T>C		1						p.L150L	NM_173077.2	NP_775100.1	1	2	3	2.111737	Q8IVL8	CBPO_HUMAN		5	496	+			Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	1	1	hg19	c.450T>C	CCDS2372.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	0	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-8.488920	1	0.170000	NM_173077			7	7		272	270	0		1	0		0	0	67	0		9.802170e-01	0	0	0	0	1	0	7	272
GDF7	151449	broad.mit.edu	37	2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	430					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662																																						ENST00000272224.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				7						c.(1288-1290)Gcc>Acc		growth differentiation factor 7							38.0	35.0	36.0					2																	20871120		2203	4300	6503	SO:0001583	missense	151449	0	0					g.chr2:20871120G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1288G>A	chr2.hg19:g.20871120G>A	ENSP00000272224:p.Ala430Thr	1						p.A430T	NM_182828.2	NP_878248.2	1	2	3	2.183349	Q7Z4P5	GDF7_HUMAN		2	1864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Missense_Mutation	SNP	ENST00000272224.3	1	1	hg19	c.1288G>A	CCDS1701.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164266	0.78339	.	.	ENSG00000143869	ENST00000272224	D	0.83992	-1.79	4.05	4.05	0.47172	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.102833	0.38272	U	0.001750	D	0.83166	0.5195	L	0.27975	0.815	0.35487	D	0.798625	D	0.71674	0.998	D	0.65010	0.931	D	0.87335	0.2327	10	0.66056	D	0.02	.	11.3575	0.49623	0.0:0.0:0.706:0.294	.	430	Q7Z4P5	GDF7_HUMAN	T	430	ENSP00000272224:A430T	ENSP00000272224:A430T	A	+	1	0	0	GDF7	20734601	20734601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.357000	0.44125	2.187000	0.69744	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_182828			28	28		168	166	1		1			0	0	38	0		1	0	0	0	0	0	0	28	168
CCNYL1	151195	broad.mit.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S|CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368																																						ENST00000295414.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				5						c.(253-255)Cca>Tca		cyclin Y-like 1							83.0	75.0	77.0					2																	208589556		2203	4300	6503	SO:0001583	missense	151195	0	0					g.chr2:208589556C>T	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.253C>T	chr2.hg19:g.208589556C>T	ENSP00000295414:p.Pro85Ser	1					CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S|CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S	p.P85S			1	2	3	2.111737	Q8N7R7	CCYL1_HUMAN		2	464	+			Q6NX60	Missense_Mutation	SNP	ENST00000295414.3	1	1	hg19	c.253C>T		1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	0	CCNYL1	208297801	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.459044	1	0.170000	NM_152523			25	24		116	114	1		1	1		0	0	29	0		9.999999e-01	9.986341e-01	0	5	0	47	0	25	116
PLEKHM3	389072	broad.mit.edu	37	2	208725853	208725853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208725853G>T	ENST00000427836.2	-	7	2573	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	695					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTCAAAAGGGTAGAGGAT	0.398																																						ENST00000427836.2	1.000000	0.110000	3.400000e-01	1.600000e-01	0.230000	0.305621	0.230000	0.230000																										0				19						c.(2083-2085)cCt>cAt		pleckstrin homology domain containing, family M, member 3							138.0	130.0	132.0					2																	208725853		1886	4106	5992	SO:0001583	missense	389072	0	0					g.chr2:208725853G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2084C>A	chr2.hg19:g.208725853G>T	ENSP00000417003:p.Pro695His	1					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	p.P695H	NM_001080475.2	NP_001073944.1	1	2	3	2.111737	Q6ZWE6	PKHM3_HUMAN		7	2573	-			B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	0	1	hg19	c.2084C>A	CCDS42808.1	0	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549105	0.86127	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.87412	-2.23;-2.25	5.06	5.06	0.68205	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95942	0.8947	10	0.87932	D	0	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	695	Q6ZWE6	PKHM3_HUMAN	H	695	ENSP00000417003:P695H;ENSP00000373899:P695H	ENSP00000373899:P695H	P	-	2	0	0	PLEKHM3	208434098	208434098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.597000	0.98273	2.763000	0.94921	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	0	1		2	2	2	0		0	0	152		152	150	1	2.060000	-2.132828	0	0.170000	NM_001080475			11	11		622	613	0		1	0		0	0	152	0		9.982136e-01	3.359366e-02	0	0	0	15	0	11	622
PLEKHM3	389072	broad.mit.edu	37	2	208811193	208811193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000427836.2	-	4	2079	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000389247.4_Silent_p.V530V|PLEKHM3_ENST00000457206.1_Silent_p.V530V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	530					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453																																						ENST00000427836.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1588-1590)gtG>gtA		pleckstrin homology domain containing, family M, member 3							152.0	152.0	152.0					2																	208811193		1969	4168	6137	SO:0001819	synonymous_variant	389072	0	0					g.chr2:208811193C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1590G>A	chr2.hg19:g.208811193C>T		1					PLEKHM3_ENST00000457206.1_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	p.V530V	NM_001080475.2	NP_001073944.1	1	2	3	2.111737	Q6ZWE6	PKHM3_HUMAN		4	2079	-			B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	1	1	hg19	c.1590G>A	CCDS42808.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269919	0.23221	.	.	ENSG00000178385	ENST00000447645	D	0.83992	-1.79	6.04	5.15	0.70609	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90716	0.4631	7	0.66056	D	0.02	.	16.2164	0.82224	0.0:0.7491:0.2509:0.0	.	.	.	.	M	282	ENSP00000395354:V282M	ENSP00000395354:V282M	V	-	1	0	0	PLEKHM3	208519438	208519438	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.857000	0.27831	1.528000	0.49103	0.563000	0.77884	GTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_001080475			156	155		503	498	1		1	1		0	0	112	0		1	9.003274e-01	0	9	0	6	0	156	503
PLEKHM3	389072	broad.mit.edu	37	2	208841720	208841720	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208841720G>T	ENST00000427836.2	-	3	1690	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P401T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	401	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCAACAGTGGATCCTCGTCT	0.507																																						ENST00000427836.2	1.000000	0.200000	6.600000e-01	3.000000e-01	0.440000	0.491881	0.440000	0.400000																										0				19						c.(1201-1203)Cca>Aca		pleckstrin homology domain containing, family M, member 3							59.0	62.0	61.0					2																	208841720		2036	4190	6226	SO:0001583	missense	389072	0	0					g.chr2:208841720G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1201C>A	chr2.hg19:g.208841720G>T	ENSP00000417003:p.Pro401Thr	1					PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	p.P401T	NM_001080475.2	NP_001073944.1	1	2	3	2.111737	Q6ZWE6	PKHM3_HUMAN		3	1690	-			B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	0	1	hg19	c.1201C>A	CCDS42808.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370651|3.370651	0.61624|0.61624	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.15834|.	2.39;2.39;2.39|.	5.82|5.82	5.82|5.82	0.92795|0.92795	5.82|5.82	5.82|5.82	0.92795|0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.43923|0.43923	1.385|1.385	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	0.63075|0.63075	-0.6718|-0.6718	10|5	0.59425|.	D|.	0.04|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	401;401|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	T|Y	401|152	ENSP00000417003:P401T;ENSP00000373899:P401T;ENSP00000400150:P401T|.	ENSP00000373899:P401T|.	P|S	-|-	1|2	0|0	0|0	PLEKHM3|PLEKHM3	208549965|208549965	208549965|208549965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.347000|0.347000	0.29111|0.29111	7.103000|7.103000	0.77014|0.77014	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CCA|TCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.775287	1	0.170000	NM_001080475			8	8		244	242	0		1	0		0	0	56	0		9.893490e-01	4.097858e-02	0	0	0	9	0	8	244
CRYGD	1421	broad.mit.edu	37	2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	115	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562																																						ENST00000264376.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(343-345)cGc>cAc		crystallin, gamma D							123.0	117.0	119.0					2																	208986578		2203	4300	6503	SO:0001583	missense	1421	3	121412	36				g.chr2:208986578C>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.344G>A	chr2.hg19:g.208986578C>T	ENSP00000264376:p.Arg115His	1						p.R115H	NM_006891.3	NP_008822.2	1	2	3	2.111737	P07320	CRGD_HUMAN		3	371	-			Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	1	1	hg19	c.344G>A	CCDS2378.1	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528104	0.44969	.	.	ENSG00000118231	ENST00000264376	T	0.75704	-0.96	4.25	3.34	0.38264	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.065041	0.64402	D	0.000007	T	0.70029	0.3177	M	0.78223	2.4	0.40858	D	0.983814	B	0.16396	0.017	B	0.17433	0.018	T	0.66221	-0.5978	10	0.40728	T	0.16	.	5.9174	0.19063	0.0:0.7564:0.0:0.2436	.	115	P07320	CRGD_HUMAN	H	115	ENSP00000264376:R115H	ENSP00000264376:R115H	R	-	2	0	0	CRYGD	208694823	208694823	0.093000	0.21703	1.000000	0.80357	0.990000	0.78478	0.550000	0.23345	0.947000	0.37659	0.555000	0.69702	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-3.374514	1	0.170000	NM_006891			109	105		495	489	1		1	0		0	0	123	0		1	0	0	1	0	0	0	109	495
CRYGC	1420	broad.mit.edu	37	2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	60	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567																																						ENST00000282141.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(178-180)Cga>Tga		crystallin, gamma C							69.0	74.0	72.0					2																	208994239		2203	4300	6503	SO:0001587	stop_gained	1420	1	121412	38				g.chr2:208994239G>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.178C>T	chr2.hg19:g.208994239G>A	ENSP00000282141:p.Arg60*	1						p.R60*	NM_020989.3	NP_066269.1	1	2	3	2.111737	P07315	CRGC_HUMAN		2	215	-			Q53R50	Nonsense_Mutation	SNP	ENST00000282141.3	0	1	hg19	c.178C>T	CCDS2379.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067463	0.55539	.	.	ENSG00000163254	ENST00000282141	.	.	.	4.98	1.9	0.25705	4.98	1.9	0.25705	.	0.230620	0.30575	N	0.009330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9314	0.63998	0.0:0.0:0.5404:0.4596	.	.	.	.	X	60	.	ENSP00000282141:R60X	R	-	1	2	2	CRYGC	208702484	208702484	0.000000	0.05858	0.987000	0.45799	0.293000	0.27360	0.281000	0.18810	0.211000	0.20683	-2.048000	0.00412	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_020989			195	195		507	498	1		1			0	0	132	0		1	0	0	0	0	0	0	195	507
CRYGB	1419	broad.mit.edu	37	2	209010739	209010739	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	4	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562																																						ENST00000260988.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(10-12)aTc>aCc		crystallin, gamma B							98.0	88.0	91.0					2																	209010739		2203	4300	6503	SO:0001630	splice_region_variant	1419	0	0					g.chr2:209010739A>G		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.10-1T>C	chr2.hg19:g.209010739A>G		1						p.I4T	NM_005210.3	NP_005201.2	1	2	3	2.111737	P07316	CRGB_HUMAN		2	58	-			Q17RB5|Q53ST2	Splice_Site	SNP	ENST00000260988.4	1	0	hg19	c.11T>C	CCDS2380.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985896	0.74589	.	.	ENSG00000182187	ENST00000260988	D	0.82255	-1.59	4.62	4.62	0.57501	4.62	4.62	0.57501	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96008	0.8999	10	0.87932	D	0	.	12.2776	0.54744	1.0:0.0:0.0:0.0	.	4	P07316	CRGB_HUMAN	T	4	ENSP00000260988:I4T	ENSP00000260988:I4T	I	-	2	0	0	CRYGB	208718984	208718984	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.107000	0.94261	2.065000	0.61736	0.459000	0.35465	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_005210	Missense_Mutation		109	107		322	311	1		1			0	0	72	0		1	0	0	0	0	0	0	109	322
IDH1	3417	broad.mit.edu	37	2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	49					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q33.3	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""				O	O			gliobastoma		0				4887						c.(145-147)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							146.0	119.0	128.0					2																	209113362		2203	4300	6503	SO:0001583	missense	3417	1	121412	32				g.chr2:209113362G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.145C>T	chr2.hg19:g.209113362G>A	ENSP00000390265:p.Arg49Cys	1					IDH1_ENST00000345146.2_Missense_Mutation_p.R49C|IDH1_ENST00000446179.1_Missense_Mutation_p.R49C	p.R49C	NM_001282387.1	NP_001269316.1	1	2	3	2.111737	O75874	IDHC_HUMAN		4	526	-			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	1	1	hg19	c.145C>T	CCDS2381.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759019	0.69763	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.4	4.51	0.55191	5.4	4.51	0.55191	Isopropylmalate dehydrogenase-like domain (2);	0.047279	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99347	4.525	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.82853	-0.0252	10	0.87932	D	0	-30.6508	15.4143	0.74952	0.0:0.0:0.8597:0.1403	.	49	O75874	IDHC_HUMAN	C	49	ENSP00000260985:R49C;ENSP00000410513:R49C;ENSP00000390265:R49C;ENSP00000391075:R49C;ENSP00000409045:R49C;ENSP00000396787:R49C	ENSP00000260985:R49C	R	-	1	0	0	IDH1	208821607	208821607	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.406000	0.73276	1.246000	0.43901	0.555000	0.69702	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-5.943906	1	0.170000				99	99		279	275	1		1	1		0	0	54	0		1	1	0	111	0	321	0	99	279
C2orf43	60526	broad.mit.edu	37	2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343																																						ENST00000237822.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(685-687)Tta>Gta		chromosome 2 open reading frame 43							89.0	93.0	92.0					2																	20939749		2203	4300	6503	SO:0001583	missense	60526	0	0					g.chr2:20939749A>C	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.685T>G	chr2.hg19:g.20939749A>C	ENSP00000237822:p.Leu229Val	1					C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V	p.L229V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	1	2	3	2.183349	Q9H6V9	CB043_HUMAN		5	764	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	1	1	hg19	c.685T>G	CCDS1702.1	1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368363	0.24771	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.47869	0.83;1.56;0.83	5.76	-2.53	0.06326	5.76	-2.53	0.06326	.	0.579646	0.16566	N	0.208842	T	0.41236	0.1150	L	0.47716	1.5	0.21627	N	0.999619	P;P;B;P	0.47677	0.846;0.899;0.197;0.786	B;P;B;P	0.47941	0.34;0.514;0.378;0.562	T	0.45366	-0.9266	10	0.20046	T	0.44	-1.5435	11.3086	0.49351	0.3846:0.0:0.6154:0.0	.	187;181;229;229	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	99;229;229;181;99;99	ENSP00000384267:L99V;ENSP00000388635:L181V;ENSP00000440570:L99V	ENSP00000237822:L229V	L	-	1	2	2	C2orf43	20803230	20803230	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.023000	0.12456	-0.259000	0.09432	-0.297000	0.09499	TTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_021925			126	126		357	349	1		1	1		0	0	82	0		1	9.972893e-01	0	9	0	19	0	126	357
PIKFYVE	200576	broad.mit.edu	37	2	209180055	209180055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209180055G>T	ENST00000264380.4	+	15	2123	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	655					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)			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						TCAAGAACCAGGATGATGACA	0.448																																						ENST00000264380.4	1.000000	0.200000	6.400000e-01	3.000000e-01	0.430000	0.484476	0.430000	0.400000																										0				107						c.(1963-1965)caG>caT		phosphoinositide kinase, FYVE finger containing							129.0	102.0	111.0					2																	209180055		2203	4300	6503	SO:0001583	missense	200576	0	0					g.chr2:209180055G>T	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.1965G>T	chr2.hg19:g.209180055G>T	ENSP00000264380:p.Gln655His	1						p.Q655H	NM_015040.3	NP_055855.2	1	2	3	2.111737	Q9Y2I7	FYV1_HUMAN		15	2123	+			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	1	1	hg19	c.1965G>T	CCDS2382.1	0	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397805	0.42512	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.13901	2.55;2.55	5.85	4.0	0.46444	5.85	4.0	0.46444	.	0.217092	0.37623	N	0.002001	T	0.10809	0.0264	L	0.27053	0.805	0.80722	D	1	B;B	0.30793	0.196;0.295	B;B	0.38156	0.183;0.266	T	0.15150	-1.0447	10	0.45353	T	0.12	-5.7273	5.2577	0.15555	0.1663:0.0:0.6435:0.1902	.	655;599	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	655;231;599	ENSP00000264380:Q655H;ENSP00000405736:Q599H	ENSP00000264380:Q655H	Q	+	3	2	2	PIKFYVE	208888300	208888300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	1.403000	0.46800	0.585000	0.79938	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.336904	1	0.170000	NM_015040			9	8		277	273	0		1	1		0	0	58	0		9.939492e-01	3.039718e-01	0	3	0	29	0	9	277
MAP2	4133	broad.mit.edu	37	2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	977					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)			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)	AAAGAACATGCCAAGAAAACT	0.393																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(2929-2931)gCc>gTc		microtubule-associated protein 2	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)						76.0	73.0	74.0					2																	210559824		2203	4300	6503	SO:0001583	missense	4133	0	0					g.chr2:210559824C>T		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.2930C>T	chr2.hg19:g.210559824C>T	ENSP00000353508:p.Ala977Val	1					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.A977V	NM_002374.3	NP_002365.3	1	2	3	2.111737	P11137	MTAP2_HUMAN		7	3436	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	1	1	hg19	c.2930C>T	CCDS2384.1	1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440411	0.25900	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.79	3.0	0.34707	5.79	3.0	0.34707	MAP2/Tau projection (1);	0.609412	0.15636	N	0.252128	T	0.17365	0.0417	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.22730	-1.0208	10	0.34782	T	0.22	-1.6898	4.7164	0.12898	0.1255:0.6122:0.1215:0.1408	.	973;977	P11137-3;P11137	.;MAP2_HUMAN	V	977;973	ENSP00000353508:A977V;ENSP00000392164:A973V	ENSP00000353508:A977V	A	+	2	0	0	MAP2	210268069	210268069	0.009000	0.17119	0.042000	0.18584	0.780000	0.44128	0.870000	0.28010	0.361000	0.24292	-0.894000	0.02916	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001039538			87	86		373	370	1		1	0		0	0	77	0		1	4.673266e-01	0	1	0	7	0	87	373
RPE	6120	broad.mit.edu	37	2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A	rs535548466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000359429.6	+	3	423	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0					ENST00000359429.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(325-327)cGg>cAg		ribulose-5-phosphate-3-epimerase							81.0	82.0	82.0					2																	210880820		2203	4300	6503	SO:0001583	missense	6120	1	121412	23				g.chr2:210880820G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.326G>A	chr2.hg19:g.210880820G>A	ENSP00000352401:p.Arg109Gln	1					RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q	p.R109Q	NM_199229.1	NP_954699.1	1	2	3	2.111737	Q96AT9	RPE_HUMAN		3	423	+			A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	1	1	hg19	c.326G>A	CCDS2388.1	1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154513	0.57259	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.72120	0.3421	M	0.74881	2.28	0.58432	D	0.999994	B;D;P;B;B	0.55800	0.377;0.973;0.751;0.322;0.259	B;P;B;B;B	0.50352	0.199;0.638;0.179;0.063;0.122	T	0.72497	-0.4275	9	0.39692	T	0.17	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	Q	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83Q	R	+	2	0	0	RPE	210589065	210589065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.282000	0.72639	2.691000	0.91804	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-5.007506	1	0.170000	NM_006916			78	75		217	214	1		1	1		0	0	64	0		1	1	0	37	0	108	0	78	217
RPE	6120	broad.mit.edu	37	2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000359429.6	+	5	582	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000540255.1_Intron|RPE_ENST00000454822.1_Missense_Mutation_p.W112L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	162					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453																																						ENST00000359429.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(484-486)tGg>tTg		ribulose-5-phosphate-3-epimerase							122.0	115.0	118.0					2																	210882204		2203	4300	6503	SO:0001583	missense	6120	0	0					g.chr2:210882204G>T		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.485G>T	chr2.hg19:g.210882204G>T	ENSP00000352401:p.Trp162Leu	1					RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000540255.1_Intron|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L	p.W162L	NM_199229.1	NP_954699.1	1	2	3	2.111737	Q96AT9	RPE_HUMAN		5	582	+			A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	1	1	hg19	c.485G>T	CCDS2388.1	1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007901	0.35415	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.60160	0.987;0.002;0.001;0.001	P;B;B;B	0.61275	0.886;0.01;0.006;0.003	T	0.51434	-0.8706	9	0.11182	T	0.66	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	132;154;162;162	B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	L	162;112;94;112;112;112;94;94;94;162;94;94;162;154	.	ENSP00000346501:W154L	W	+	2	0	0	RPE	210590449	210590449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.654000	0.90174	0.655000	0.94253	TGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.224172	1	0.170000	NM_006916			70	70		287	280	1		1	1		0	0	73	0		1	1	0	41	0	169	0	70	287
ACADL	33	broad.mit.edu	37	2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	188					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)			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)		ATCCTTTTTAGCATTTGTTTT	0.303																																						ENST00000233710.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(562-564)gCt>gTt		acyl-CoA dehydrogenase, long chain							173.0	170.0	171.0					2																	211074960		2203	4300	6503	SO:0001583	missense	33	0	0					g.chr2:211074960G>A	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.563C>T	chr2.hg19:g.211074960G>A	ENSP00000233710:p.Ala188Val	1					AC006994.2_ENST00000412065.1_RNA	p.A188V	NM_001608.3	NP_001599.1	1	2	3	2.111737	P28330	ACADL_HUMAN		5	790	-		Renal(323;0.202)	B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	1	1	hg19	c.563C>T	CCDS2389.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.064141	0.93898	.	.	ENSG00000115361	ENST00000233710	D	0.99814	-6.89	5.33	5.33	0.75918	5.33	5.33	0.75918	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.0113	0.92874	0.0:0.0:1.0:0.0	.	188	P28330	ACADL_HUMAN	V	188	ENSP00000233710:A188V	ENSP00000233710:A188V	A	-	2	0	0	ACADL	210783205	210783205	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.176000	0.94839	2.497000	0.84241	0.563000	0.77884	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_001608			183	181		579	569	1		1	0		0	0	117	0		1	3.479163e-01	0	1	0	4	0	183	579
LANCL1	10314	broad.mit.edu	37	2	211319832	211319832	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	LANCL1_ENST00000450366.2_Splice_Site_p.R136W|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.R136W|LANCL1_ENST00000233714.4_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	136					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413																																						ENST00000443314.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(406-408)Cgg>Tgg		LanC lantibiotic synthetase component C-like 1 (bacterial)							90.0	77.0	81.0					2																	211319832		2203	4300	6503	SO:0001630	splice_region_variant	10314	2	121394	38				g.chr2:211319832G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.407+1C>T	chr2.hg19:g.211319832G>A		1					LANCL1_ENST00000233714.4_Splice_Site_p.R136W|LANCL1_ENST00000450366.2_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.R136W	p.R136W			1	2	3	2.111737	O43813	LANC1_HUMAN		3	748	-				Splice_Site	SNP	ENST00000443314.1	1	0	hg19	c.406C>T	CCDS2392.1	1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129799	0.37630	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.64	1.57	0.23409	5.64	1.57	0.23409	Six-hairpin glycosidase-like (1);	0.098347	0.64402	D	0.000001	T	0.61048	0.2316	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.63915	-0.6529	10	0.87932	D	0	.	9.3467	0.38113	0.0647:0.0:0.4569:0.4783	.	136	O43813	LANC1_HUMAN	W	136	ENSP00000388713:R136W;ENSP00000393323:R136W;ENSP00000393597:R136W;ENSP00000233714:R136W;ENSP00000397646:R136W;ENSP00000396518:R136W	ENSP00000233714:R136W	R	-	1	2	2	LANCL1	211028077	211028077	0.990000	0.36364	0.641000	0.29422	0.121000	0.20230	1.256000	0.32921	0.406000	0.25560	0.650000	0.86243	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_006055	Missense_Mutation		90	88		295	291	1		1	1		0	0	66	0		1	1	0	56	0	81	0	90	295
CPS1	1373	broad.mit.edu	37	2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	255	Glutamine amidotransferase type-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)			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)	CACCAAGATGGAGTATGATGG	0.443																																						ENST00000233072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(763-765)Gag>Aag		carbamoyl-phosphate synthase 1, mitochondrial	Carglumic Acid(DB06775)						206.0	214.0	212.0					2																	211454881		2203	4300	6503	SO:0001583	missense	1373	2	121412	39				g.chr2:211454881G>A	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.763G>A	chr2.hg19:g.211454881G>A	ENSP00000233072:p.Glu255Lys	1					CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	p.E255K	NM_001875.4	NP_001866.2	1	2	3	2.111737	P31327	CPSM_HUMAN		8	959	+			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	1	1	hg19	c.763G>A	CCDS2393.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571917	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.150178	0.64402	D	0.000018	D	0.85796	0.5780	L	0.37897	1.145	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.79225	-0.1891	10	0.38643	T	0.18	-1.1782	20.2885	0.98538	0.0:0.0:1.0:0.0	.	265;255	Q59HF8;P31327	.;CPSM_HUMAN	K	261;263;255;255	ENSP00000402608:E261K;ENSP00000233072:E255K	ENSP00000233072:E255K	E	+	1	0	0	CPS1	211163126	211163126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.500000	0.81588	2.791000	0.96007	0.650000	0.86243	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	0	0	1		2	2	2	0		0	0	292		292	291	1	2.060000	-20.000000	1	0.170000				309	304		1045	1023	1		1	0		0	0	292	0		1	5.231696e-02	0	1	0	1	0	309	1045
CPS1	1373	broad.mit.edu	37	2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000451903.2_Missense_Mutation_p.I407N|CPS1_ENST00000430249.2_Missense_Mutation_p.I864N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	858					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)			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)	TGGCAGGCCATTGATGACAAC	0.358																																						ENST00000233072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(2572-2574)aTt>aAt		carbamoyl-phosphate synthase 1, mitochondrial	Carglumic Acid(DB06775)						154.0	151.0	152.0					2																	211481151		2203	4300	6503	SO:0001583	missense	1373	0	0					g.chr2:211481151T>A	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.2573T>A	chr2.hg19:g.211481151T>A	ENSP00000233072:p.Ile858Asn	1					CPS1_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	p.I858N	NM_001875.4	NP_001866.2	1	2	3	2.111737	P31327	CPSM_HUMAN		21	2769	+			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	1	1	hg19	c.2573T>A	CCDS2393.1	1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786943	0.49997	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96940	-4.18;-4.18;-4.18	5.41	5.41	0.78517	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.354656	0.29900	N	0.010913	D	0.95178	0.8437	M	0.62088	1.915	0.34698	D	0.726462	P;P	0.43477	0.808;0.537	B;B	0.40285	0.325;0.325	D	0.99694	1.1002	10	0.87932	D	0	-3.1683	15.7337	0.77825	0.0:0.0:0.0:1.0	.	868;858	Q59HF8;P31327	.;CPSM_HUMAN	N	864;866;858;407	ENSP00000402608:I864N;ENSP00000233072:I858N;ENSP00000406136:I407N	ENSP00000233072:I858N	I	+	2	0	0	CPS1	211189396	211189396	0.999000	0.42202	0.603000	0.28903	0.669000	0.39330	7.400000	0.79949	2.169000	0.68431	0.533000	0.62120	ATT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000				87	85		470	461	1		1	0		0	0	89	0		1	1.199546e-01	0	0	0	4	0	87	470
CPS1	1373	broad.mit.edu	37	2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	918			S -> P (in CPS1D). {ECO:0000269|PubMed:15617192}.		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)			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)	AAGCAGATTTCAAAATGCCTT	0.438																																						ENST00000233072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(2752-2754)tCa>tAa		carbamoyl-phosphate synthase 1, mitochondrial	Carglumic Acid(DB06775)						83.0	91.0	89.0					2																	211502491		2203	4300	6503	SO:0001587	stop_gained	1373	0	0					g.chr2:211502491C>A	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.2753C>A	chr2.hg19:g.211502491C>A	ENSP00000233072:p.Ser918*	1					CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*	p.S918*	NM_001875.4	NP_001866.2	1	2	3	2.111737	P31327	CPSM_HUMAN		22	2949	+			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	0	1	hg19	c.2753C>A	CCDS2393.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.056447	0.98632	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.110943	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.9867	14.2331	0.65906	0.0:0.7351:0.2649:0.0	.	.	.	.	X	924;926;918;467	.	ENSP00000233072:S918X	S	+	2	0	0	CPS1	211210736	211210736	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.994000	0.70623	2.708000	0.92522	0.650000	0.86243	TCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				83	83		338	334	0		1	0		0	0	79	0		1	7.568874e-01	0	0	0	13	0	83	338
CPS1	1373	broad.mit.edu	37	2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000451903.2_Missense_Mutation_p.S765N|CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1216	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)			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)	CAAACCATCAGCCAAGGGGCC	0.408																																						ENST00000233072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(3646-3648)aGc>aAc		carbamoyl-phosphate synthase 1, mitochondrial	Carglumic Acid(DB06775)						66.0	67.0	67.0					2																	211521337		2203	4300	6503	SO:0001583	missense	1373	0	0					g.chr2:211521337G>A	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.3647G>A	chr2.hg19:g.211521337G>A	ENSP00000233072:p.Ser1216Asn	1					CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	p.S1216N	NM_001875.4	NP_001866.2	1	2	3	2.111737	P31327	CPSM_HUMAN		30	3843	+			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	1	1	hg19	c.3647G>A	CCDS2393.1	1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380057	0.24944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.08	6.08	0.98989	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.63843	1.955	0.58432	D	0.999998	P;P	0.37141	0.584;0.584	B;B	0.39971	0.315;0.315	D	0.93651	0.6973	10	0.02654	T	1	-10.9857	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1226;1216	Q59HF8;P31327	.;CPSM_HUMAN	N	1222;1224;1216;765	ENSP00000402608:S1222N;ENSP00000233072:S1216N;ENSP00000406136:S765N	ENSP00000233072:S1216N	S	+	2	0	0	CPS1	211229582	211229582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-5.683313	1	0.170000				81	79		230	222	1		1	0		0	0	54	0		1	5.782668e-01	0	0	0	7	0	81	230
APOB	338	broad.mit.edu	37	2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4525					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)			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)					GGTAGTTTTGAATGGACAGGT	0.378																																						ENST00000233242.1	0.580000	0.270000	5.000000e-01	3.400000e-01	0.410000	0.425351	0.410000	0.420000																										0				305						c.(13573-13575)atT>atG		apolipoprotein B							142.0	146.0	145.0					2																	21224719		2203	4300	6503	SO:0001583	missense	338	0	0					g.chr2:21224719A>C	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.13575T>G	chr2.hg19:g.21224719A>C	ENSP00000233242:p.Ile4525Met	1					RP11-116D2.1_ENST00000567376.2_lincRNA	p.I4525M	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		29	13702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	1	1	hg19	c.13575T>G	CCDS1703.1	0	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384456	0.61845	.	.	ENSG00000084674	ENST00000233242	T	0.37058	1.22	5.68	2.93	0.34026	5.68	2.93	0.34026	.	0.218872	0.31884	N	0.006919	T	0.28797	0.0714	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.40864	0.342	T	0.18241	-1.0343	10	0.72032	D	0.01	.	1.1843	0.01852	0.5206:0.1313:0.1521:0.1959	.	4525	P04114	APOB_HUMAN	M	4525	ENSP00000233242:I4525M	ENSP00000233242:I4525M	I	-	3	3	3	APOB	21078224	21078224	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	0.387000	0.20718	0.957000	0.37930	0.482000	0.46254	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	1		2	2	2	0		0	0	160		160	158	1	2.060000	-19.994190	1	0.170000				27	26		808	791	0		1	0		0	0	160	0		9.999999e-01	0	0	0	0	1	0	27	808
CPS1	1373	broad.mit.edu	37	2	211533008	211533008	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000451903.2_Splice_Site_p.Q916Q|CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1367					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)			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)	TAGGCATCCAGGTAAGTGGTT	0.473																																						ENST00000233072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(4099-4101)caG>caA		carbamoyl-phosphate synthase 1, mitochondrial	Carglumic Acid(DB06775)						90.0	81.0	84.0					2																	211533008		2203	4299	6502	SO:0001630	splice_region_variant	1373	0	0					g.chr2:211533008G>A	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.4101+1G>A	chr2.hg19:g.211533008G>A		1					CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q|CPS1_ENST00000451903.2_Splice_Site_p.Q916Q	p.Q1367Q	NM_001875.4	NP_001866.2	1	2	3	2.111737	P31327	CPSM_HUMAN		34	4297	+			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	1	0	hg19	c.4101G>A	CCDS2393.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-6.415793	1	0.170000		Silent		95	92		248	244	1		1	0		0	0	85	0		1	6.962888e-01	0	1	0	7	0	95	248
APOB	338	broad.mit.edu	37	2	21226159	21226159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4045					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)			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)					CAGATTCCCGGACCCTCAACT	0.403																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(12133-12135)gtC>gtT		apolipoprotein B							207.0	233.0	224.0					2																	21226159		2203	4300	6503	SO:0001819	synonymous_variant	338	0	0					g.chr2:21226159G>A	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.12135C>T	chr2.hg19:g.21226159G>A		1					RP11-116D2.1_ENST00000567376.2_lincRNA	p.V4045V	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		29	12262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	1	1	hg19	c.12135C>T	CCDS1703.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	0		2	2	2	0		0	0	360		360	358	1	2.060000	-20.000000	1	0.170000				275	269		1543	1511	1		1			0	0	360	0		1	0	0	0	0	0	0	275	1543
ERBB4	2066	broad.mit.edu	37	2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCATCCAGCTCTCCTCGTGGG	0.527										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.720000	1	8.500000e-01	0.990000	0.947163	0.990000	1.000000																										0				179						c.(3430-3432)Gag>Tag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						163.0	151.0	155.0					2																	212251629		2203	4300	6503	SO:0001587	stop_gained	2066	0	0					g.chr2:212251629C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3430G>T	chr2.hg19:g.212251629C>A	ENSP00000342235:p.Glu1144*	1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	p.E1144*	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		27	3740	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	0	1	hg19	c.3430G>T	CCDS2394.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.171377	0.98688	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	.	.	.	X	1144;1128;1134	.	ENSP00000342235:E1144X	E	-	1	0	0	ERBB4	211959874	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_001042599			39	38		459	453	0		1			0	0	82	0		1	0	0	0	0	0	0	39	459
ERBB4	2066	broad.mit.edu	37	2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1044					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTACCCTATTCGAGTCAATT	0.343										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(3130-3132)Aat>Gat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						63.0	60.0	61.0					2																	212285171		2203	4300	6503	SO:0001583	missense	2066	0	0					g.chr2:212285171T>C	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.3130A>G	chr2.hg19:g.212285171T>C	ENSP00000342235:p.Asn1044Asp	1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D	p.N1044D	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		25	3440	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	1	1	hg19	c.3130A>G	CCDS2394.1	1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176860	0.57692	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74737	-0.87;-0.87;-0.87	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.047923	0.85682	D	0.000000	T	0.61098	0.2320	N	0.08118	0	0.58432	D	0.999992	P;B;P;P	0.41848	0.763;0.03;0.763;0.651	B;B;B;B	0.42361	0.385;0.049;0.385;0.214	T	0.66460	-0.5918	10	0.42905	T	0.14	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1034;1034;1044;1044	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1044;1044;1034	ENSP00000342235:N1044D;ENSP00000403204:N1044D;ENSP00000385565:N1034D	ENSP00000342235:N1044D	N	-	1	0	0	ERBB4	211993416	211993416	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.668000	0.83897	2.243000	0.73865	0.533000	0.62120	AAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_001042599			36	36		114	113	1		1			0	0	38	0		1	0	0	0	0	0	0	36	114
ERBB4	2066	broad.mit.edu	37	2	212285274	212285274	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000436443.1_Silent_p.D1009D|ERBB4_ENST00000402597.1_Silent_p.D999D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1009					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AATCCTCTTCATCCAAGAGAT	0.428										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(3025-3027)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						96.0	88.0	91.0					2																	212285274		2203	4300	6503	SO:0001819	synonymous_variant	2066	0	0					g.chr2:212285274A>G	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.3027T>C	chr2.hg19:g.212285274A>G		1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	p.D1009D	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		25	3337	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	1	1	hg19	c.3027T>C	CCDS2394.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_001042599			59	58		182	180	0		1			0	0	50	0		1	0	0	0	0	0	0	59	182
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		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.R3558H(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)					GGAATATATGCGTTGGAGTGT	0.463																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R3558H(1)	prostate(1)	305						c.(10672-10674)cGc>cAc		apolipoprotein B							67.0	69.0	68.0					2																	21229067		2203	4300	6503	SO:0001583	missense	338	2	121412	33				g.chr2:21229067C>T	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.10673G>A	chr2.hg19:g.21229067C>T	ENSP00000233242:p.Arg3558His	1						p.R3558H	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		26	10800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	1	1	hg19	c.10673G>A	CCDS1703.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	0	APOB	21082572	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	0		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000				135	133		322	318	1		1	0		0	0	80	0		1	0	0	0	0	1	0	135	322
APOB	338	broad.mit.edu	37	2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3538					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)			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)					GATATCATCAATTTTGGAAGT	0.433																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(10612-10614)aTt>aGt		apolipoprotein B							102.0	107.0	105.0					2																	21229127		2203	4300	6503	SO:0001583	missense	338	0	0					g.chr2:21229127A>C	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.10613T>G	chr2.hg19:g.21229127A>C	ENSP00000233242:p.Ile3538Ser	1						p.I3538S	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		26	10740	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	1	1	hg19	c.10613T>G	CCDS1703.1	1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456899	0.26161	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.78595	-1.19	5.85	4.64	0.57946	5.85	4.64	0.57946	.	0.838313	0.10117	N	0.713988	T	0.65883	0.2734	N	0.22421	0.69	0.34222	D	0.675498	B	0.29378	0.243	B	0.25987	0.065	T	0.67264	-0.5714	10	0.87932	D	0	.	8.7714	0.34735	0.7795:0.0:0.2205:0.0	.	3538	P04114	APOB_HUMAN	S	3538	ENSP00000233242:I3538S	ENSP00000233242:I3538S	I	-	2	0	0	APOB	21082632	21082632	0.000000	0.05858	0.010000	0.14722	0.345000	0.29048	0.656000	0.24948	0.964000	0.38108	0.533000	0.62120	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	0		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000				173	173		550	538	1		1			0	0	126	0		1	0	0	0	0	0	0	173	550
APOB	338	broad.mit.edu	37	2	21233266	21233266	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2158	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)			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)					CATCTAATGCAATTTGTATAT	0.299																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(6472-6474)atT>atC		apolipoprotein B							56.0	55.0	56.0					2																	21233266		2203	4300	6503	SO:0001819	synonymous_variant	338	0	0					g.chr2:21233266A>G	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.6474T>C	chr2.hg19:g.21233266A>G		1						p.I2158I	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		26	6601	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	1	1	hg19	c.6474T>C	CCDS1703.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				32	30		78	77	1		1	0		0	0	39	0		1	0	0	0	0	1	0	32	78
APOB	338	broad.mit.edu	37	2	21233848	21233848	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1964					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)			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)					CTTTGTGTTCAAGAGCTGCAC	0.458																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(5890-5892)ctT>ctC		apolipoprotein B							157.0	145.0	149.0					2																	21233848		2203	4300	6503	SO:0001819	synonymous_variant	338	0	0					g.chr2:21233848A>G	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.5892T>C	chr2.hg19:g.21233848A>G		1						p.L1964L	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		26	6019	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	1	1	hg19	c.5892T>C	CCDS1703.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				197	193		491	483	1		1			0	0	84	0		1	0	0	0	0	0	0	197	491
APOB	338	broad.mit.edu	37	2	21236120	21236120	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1376					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)			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)					TGCTGGTGTTGCCACCACTGT	0.517																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(4126-4128)ggC>ggT		apolipoprotein B							198.0	180.0	186.0					2																	21236120		2203	4300	6503	SO:0001819	synonymous_variant	338	0	0					g.chr2:21236120G>A	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.4128C>T	chr2.hg19:g.21236120G>A		1						p.G1376G	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		25	4255	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	1	1	hg19	c.4128C>T	CCDS1703.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-20.000000	1	0.170000				239	237		725	717	1		1			0	0	202	0		1	0	0	0	0	0	0	239	725
APOB	338	broad.mit.edu	37	2	21238318	21238318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1144					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)			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)					GAAGCAGTTTGGCAGGCGACC	0.488																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				305						c.(3430-3432)gcC>gcT		apolipoprotein B							150.0	131.0	138.0					2																	21238318		2203	4300	6503	SO:0001819	synonymous_variant	338	0	0					g.chr2:21238318G>A	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.3432C>T	chr2.hg19:g.21238318G>A		1						p.A1144A	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		22	3559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	1	1	hg19	c.3432C>T	CCDS1703.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000				68	67		344	343	1		1			0	0	79	0		1	0	0	0	0	0	0	68	344
APOB	338	broad.mit.edu	37	2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	913	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)			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)					GGCAACATGAGCCTCCAGACC	0.498																																						ENST00000233242.1	1.000000	0.760000	1	9.300000e-01	0.990000	0.973230	0.990000	1.000000																										0				305						c.(2737-2739)gCt>gAt		apolipoprotein B							83.0	75.0	78.0					2																	21245781		2203	4300	6503	SO:0001583	missense	338	0	0					g.chr2:21245781G>T	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.2738C>A	chr2.hg19:g.21245781G>T	ENSP00000233242:p.Ala913Asp	1						p.A913D	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		18	2865	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	1	1	hg19	c.2738C>A	CCDS1703.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780221	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19669	2.13	5.51	3.72	0.42706	5.51	3.72	0.42706	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.321319	0.26474	N	0.024168	T	0.40546	0.1121	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.22138	-1.0225	10	0.87932	D	0	.	7.7883	0.29106	0.1421:0.1333:0.7247:0.0	.	913	P04114	APOB_HUMAN	D	913	ENSP00000233242:A913D	ENSP00000233242:A913D	A	-	2	0	0	APOB	21099286	21099286	1.000000	0.71417	0.619000	0.29118	0.916000	0.54674	3.676000	0.54612	0.823000	0.34589	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-9.690214	1	0.170000				27	26		280	276	0		1			0	0	48	0		1	0	0	0	0	0	0	27	280
ERBB4	2066	broad.mit.edu	37	2	212285328	212285328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000436443.1_Silent_p.D991D|ERBB4_ENST00000402597.1_Silent_p.D981D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCTTCATACGATCATCACCCT	0.363										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(2971-2973)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						78.0	76.0	76.0					2																	212285328		2203	4299	6502	SO:0001819	synonymous_variant	2066	0	0					g.chr2:212285328A>G	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.2973T>C	chr2.hg19:g.212285328A>G		1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Silent_p.D981D|ERBB4_ENST00000436443.1_Silent_p.D991D	p.D991D	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		25	3283	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	1	1	hg19	c.2973T>C	CCDS2394.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_001042599			72	71		193	190	1		1			0	0	51	0		1	0	0	0	0	0	0	72	193
ERBB4	2066	broad.mit.edu	37	2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	697					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGAGTTAATGGTTCCACCAAC	0.458										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(2089-2091)Cca>Tca		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						101.0	98.0	99.0					2																	212488760		2203	4300	6503	SO:0001583	missense	2066	0	0					g.chr2:212488760G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2089C>T	chr2.hg19:g.212488760G>A	ENSP00000342235:p.Pro697Ser	1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S	p.P697S	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		18	2399	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	1	1	hg19	c.2089C>T	CCDS2394.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027476	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76316	-0.99;-0.99;-1.01	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;P;P	0.85130	0.911;0.997;0.863;0.861	D	0.88800	0.3284	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	687;687;697;697	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	697;697;687	ENSP00000342235:P697S;ENSP00000403204:P697S;ENSP00000385565:P687S	ENSP00000342235:P697S	P	-	1	0	0	ERBB4	212197005	212197005	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.837000	0.99465	2.805000	0.96524	0.655000	0.94253	CCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_001042599			60	59		277	271	1		1			0	0	67	0		1	0	0	0	0	0	0	60	277
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A	rs548108916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	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.R635W(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)					TGATAGTTCCGAGAGAATTTT	0.368																																						ENST00000233242.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R635W(1)	lung(1)	305						c.(1903-1905)Cgg>Tgg		apolipoprotein B							117.0	121.0	120.0					2																	21250864		2203	4300	6503	SO:0001583	missense	338	4	121412	44				g.chr2:21250864G>A	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.1903C>T	chr2.hg19:g.21250864G>A	ENSP00000233242:p.Arg635Trp	1					APOB_ENST00000399256.4_Missense_Mutation_p.R635W	p.R635W	NM_000384.2	NP_000375	1	2	3	2.183349	P04114	APOB_HUMAN		14	2030	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	1	1	hg19	c.1903C>T	CCDS1703.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	2	APOB	21104369	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000				134	134		641	629	1		1			0	0	109	0		1	0	0	0	0	0	0	134	641
ERBB4	2066	broad.mit.edu	37	2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	672					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AACATAAACAGCAAATGTCAG	0.403										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(2014-2016)gCt>gAt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						102.0	107.0	105.0					2																	212495251		2203	4300	6503	SO:0001583	missense	2066	0	0					g.chr2:212495251G>T	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.2015C>A	chr2.hg19:g.212495251G>T	ENSP00000342235:p.Ala672Asp	1	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D	p.A672D	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		17	2325	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	1	1	hg19	c.2015C>A	CCDS2394.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.021134|5.021134	0.93462|0.93462	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76186|.	-0.99;-1.0;-1.0|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.996;0.529;1.0;1.0|.	D;P;B;D;D|.	0.77004|.	0.989;0.888;0.304;0.989;0.976|.	T|T	0.74642|0.74642	-0.3597|-0.3597	10|5	0.72032|.	D|.	0.01|.	.|.	19.6599|19.6599	0.95861|0.95861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;662;531;672;672|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|M	672;672;662|662	ENSP00000342235:A672D;ENSP00000403204:A672D;ENSP00000385565:A662D|.	ENSP00000342235:A672D|.	A|L	-|-	2|1	0|2	0|2	ERBB4|ERBB4	212203496|212203496	212203496|212203496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.657000|2.657000	0.90304|0.90304	0.585000|0.585000	0.79938|0.79938	GCT|CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_001042599			113	112		369	365	1		1	0		0	0	97	0		1	0	0	0	0	1	0	113	369
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCCCAGCAACGGCCAGTACAG	0.453										TSP Lung(8;0.080)																												ENST00000342788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				179						c.(586-588)Cgt>Tgt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	Afatinib(DB08916)						131.0	112.0	118.0					2																	212615400		2203	4300	6503	SO:0001583	missense	2066	1	121412	28				g.chr2:212615400G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.586C>T	chr2.hg19:g.212615400G>A	ENSP00000342235:p.Arg196Cys	1	TSP Lung(8;0.080)				ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C	p.R196C	NM_005235.2	NP_005226.1	1	2	3	2.111737	Q15303	ERBB4_HUMAN		5	896	-		Renal(323;0.06)|Lung NSC(271;0.197)	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	1	1	hg19	c.586C>T	CCDS2394.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206073	0.79127	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.30182	1.54;1.54;1.54	5.58	4.67	0.58626	5.58	4.67	0.58626	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.056132	0.64402	D	0.000001	T	0.59729	0.2215	M	0.85945	2.785	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;0.959;1.0;1.0	D;D;P;D;D	0.91635	0.998;0.952;0.737;0.998;0.999	T	0.64093	-0.6488	10	0.51188	T	0.08	.	15.8781	0.79182	0.0:0.0:0.8639:0.136	.	196;196;55;196;196	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	196	ENSP00000342235:R196C;ENSP00000403204:R196C;ENSP00000385565:R196C	ENSP00000342235:R196C	R	-	1	0	0	ERBB4	212323645	212323645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.332000	0.59279	2.625000	0.88918	0.650000	0.86243	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.942343	1	0.170000	NM_001042599			53	53		252	248	1		1			0	0	64	0		1	0	0	0	0	0	0	53	252
IKZF2	22807	broad.mit.edu	37	2	213872294	213872294	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000434687.1	-	9	1680	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000374327.4_Silent_p.I312I|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000457361.1_Silent_p.I457I|IKZF2_ENST00000421754.2_Silent_p.I383I			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	457					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)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473																																						ENST00000434687.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1369-1371)atC>atA		IKAROS family zinc finger 2 (Helios)							177.0	174.0	175.0					2																	213872294		2203	4300	6503	SO:0001819	synonymous_variant	22807	0	0					g.chr2:213872294G>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1371C>A	chr2.hg19:g.213872294G>T		1					IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000457361.1_Silent_p.I457I	p.I457I			1	2	3	2.111737	Q9UKS7	IKZF2_HUMAN		9	1680	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	1	1	hg19	c.1371C>A	CCDS2395.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_016260			231	226		672	663	1		1	0		0	0	162	0		1	2.722199e-01	0	0	0	4	0	231	672
IKZF2	22807	broad.mit.edu	37	2	213878658	213878658	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000434687.1	-	8	1022	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000457361.1_Splice_Site_p.V238A|IKZF2_ENST00000421754.2_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	238					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)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378																																						ENST00000434687.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(712-714)gTa>gCa		IKAROS family zinc finger 2 (Helios)							84.0	84.0	84.0					2																	213878658		2203	4300	6503	SO:0001630	splice_region_variant	22807	0	0					g.chr2:213878658A>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.713-1T>C	chr2.hg19:g.213878658A>G		1					IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000457361.1_Splice_Site_p.V238A	p.V238A			1	2	3	2.111737	Q9UKS7	IKZF2_HUMAN		8	1022	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	1	0	hg19	c.713T>C	CCDS2395.1	1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585743	0.28268	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13307	3.32;3.28;3.32;3.33;3.31;2.6	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.169511	0.40818	N	0.001012	T	0.25005	0.0607	L	0.47716	1.5	0.80722	D	1	D;B;B;B;P	0.61697	0.99;0.0;0.001;0.002;0.877	D;B;B;B;P	0.73380	0.98;0.001;0.003;0.001;0.728	T	0.03852	-1.0998	10	0.02654	T	1	.	14.2769	0.66187	1.0:0.0:0.0:0.0	.	166;93;212;238;16	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	A	238;244;238;212;166;93	ENSP00000410447:V238A;ENSP00000342876:V244A;ENSP00000412869:V238A;ENSP00000363439:V212A;ENSP00000395203:V166A;ENSP00000363447:V93A	ENSP00000342876:V244A	V	-	2	0	0	IKZF2	213586903	213586903	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.779000	0.62375	2.171000	0.68590	0.459000	0.35465	GTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_016260	Missense_Mutation		60	56		325	323	1		1	0		0	0	70	0		1	0	0	0	0	1	0	60	325
SPAG16	79582	broad.mit.edu	37	2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	352					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				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)		AGACTCCATGAACTTCCAGTG	0.323																																						ENST00000331683.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1054-1056)gAa>gCa		sperm associated antigen 16							55.0	60.0	58.0					2																	214354799		2202	4297	6499	SO:0001583	missense	79582	0	0					g.chr2:214354799A>C	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.1055A>C	chr2.hg19:g.214354799A>C	ENSP00000332592:p.Glu352Ala	1					SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	p.E352A	NM_024532.4	NP_078808.3	1	2	3	2.111737	Q8N0X2	SPG16_HUMAN		10	1150	+		Renal(323;0.00461)	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	1	1	hg19	c.1055A>C	CCDS2396.1	1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408981	0.25378	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62941	-0.01;-0.01;-0.01	5.93	5.93	0.95920	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207947	0.37095	N	0.002242	T	0.66177	0.2763	M	0.72479	2.2	0.30218	N	0.797086	P;P;B;P	0.51449	0.945;0.631;0.137;0.856	P;B;B;P	0.48454	0.578;0.229;0.115;0.492	T	0.67122	-0.5750	10	0.22706	T	0.39	.	12.7704	0.57417	1.0:0.0:0.0:0.0	.	258;203;292;352	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	352;258;38	ENSP00000332592:E352A;ENSP00000363428:E258A;ENSP00000416600:E38A	ENSP00000332592:E352A	E	+	2	0	0	SPAG16	214063044	214063044	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.663000	0.61532	2.269000	0.75478	0.454000	0.30748	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.996370	1	0.170000	NM_024532			40	39		192	189	1		1			0	0	57	0		1	0	0	0	0	0	0	40	192
BARD1	580	broad.mit.edu	37	2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	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	585	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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)			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)		AGCTCACTGAGCATTTTCTGT	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1753-1755)Ctc>Atc		BRCA1 associated RING domain 1							165.0	165.0	165.0					2																	215610503		2203	4300	6503	SO:0001583	missense	580	0	0		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	g.chr2:215610503G>T		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.1753C>A	chr2.hg19:g.215610503G>T	ENSP00000260947:p.Leu585Ile	1					BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	p.L585I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	1	2	3	2.111737	Q99728	BARD1_HUMAN		8	1887	-		Renal(323;0.0243)	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	1	1	hg19	c.1753C>A	CCDS2397.1	1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418594	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	D;D;D	0.83075	-1.68;-1.68;-1.68	5.2	5.2	0.72013	5.2	5.2	0.72013	BRCT (4);	0.000000	0.64402	D	0.000002	D	0.87597	0.6217	L	0.39397	1.21	0.47949	D	0.99955	D;P	0.61697	0.99;0.953	D;D	0.71870	0.975;0.958	D	0.86382	0.1730	10	0.38643	T	0.18	-5.8897	19.0931	0.93235	0.0:0.0:1.0:0.0	.	441;585	E7EUI3;Q99728	.;BARD1_HUMAN	I	585;441;134	ENSP00000260947:L585I;ENSP00000406752:L441I;ENSP00000392245:L134I	ENSP00000260947:L585I	L	-	1	0	0	BARD1	215318748	215318748	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	6.474000	0.73578	2.576000	0.86940	0.561000	0.74099	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_000465			141	140		708	688	1		1	1		0	0	130	0		1	6.621725e-01	0	2	0	11	0	141	708
BARD1	580	broad.mit.edu	37	2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000449967.2_Missense_Mutation_p.A54V|BARD1_ENST00000471787.1_5'UTR	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	198					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)			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)		TCTTGCAGAAGCCTTTTTAGC	0.388									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(592-594)gCt>gTt		BRCA1 associated RING domain 1							68.0	71.0	70.0					2																	215646005		2203	4300	6503	SO:0001583	missense	580	1	121404	29	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	g.chr2:215646005G>A		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.593C>T	chr2.hg19:g.215646005G>A	ENSP00000260947:p.Ala198Val	1					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	p.A198V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	1	2	3	2.111737	Q99728	BARD1_HUMAN		4	727	-		Renal(323;0.0243)	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	1	1	hg19	c.593C>T	CCDS2397.1	1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081057	0.08533	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.1	5.75	1.71	0.24356	5.75	1.71	0.24356	.	0.813362	0.11148	N	0.594411	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.13407	0.009;0.003	T	0.39210	-0.9625	10	0.12766	T	0.61	-3.1363	4.3336	0.11075	0.1329:0.2206:0.5298:0.1167	.	54;198	E7EUI3;Q99728	.;BARD1_HUMAN	V	198;54	ENSP00000260947:A198V;ENSP00000406752:A54V	ENSP00000260947:A198V	A	-	2	0	0	BARD1	215354250	215354250	0.289000	0.24334	0.020000	0.16555	0.033000	0.12548	1.470000	0.35354	0.878000	0.35920	0.650000	0.86243	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_000465			60	57		361	343	1		1	1		0	0	69	0		1	6.148765e-01	0	3	0	11	0	60	361
ABCA12	26154	broad.mit.edu	37	2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2284	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)			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)		TTTCTTACCTCTCCAGCAGGT	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.430000	8.700000e-01	5.400000e-01	0.670000	0.699800	0.670000	0.640000																										0				139						c.(6850-6852)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 12							110.0	111.0	111.0					2																	215815605		2203	4300	6503	SO:0001587	stop_gained	26154	0	0					g.chr2:215815605C>A	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.6850G>T	chr2.hg19:g.215815605C>A	ENSP00000272895:p.Glu2284*	1					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	p.E2284*	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		45	7069	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	0	1	hg19	c.6850G>T	CCDS33372.1	0	.	.	.	.	.	.	.	.	.	.	C	47	13.600953	0.99752	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.082820	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	2284;1966	.	ENSP00000272895:E2284X	E	-	1	0	0	ABCA12	215523850	215523850	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.978000	0.76147	2.639000	0.89480	0.555000	0.69702	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.221435	1	0.170000	NM_173076			23	22		424	415	0		1			0	0	79	0		9.999992e-01	0	0	0	0	0	0	23	424
ABCA12	26154	broad.mit.edu	37	2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2247					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)			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)		TCAGCTGCACCACTCTCAACT	0.378																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(6739-6741)Ggt>Agt		ATP-binding cassette, sub-family A (ABC1), member 12							224.0	220.0	222.0					2																	215815716		2203	4300	6503	SO:0001583	missense	26154	0	0					g.chr2:215815716C>T	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.6739G>A	chr2.hg19:g.215815716C>T	ENSP00000272895:p.Gly2247Ser	1					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	p.G2247S	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		45	6958	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.6739G>A	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057706	0.76074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.45	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.374382	0.25768	N	0.028440	D	0.92795	0.7709	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	D	0.93225	0.6612	10	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	2247;1929	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2247;1929	ENSP00000272895:G2247S;ENSP00000374312:G1929S	ENSP00000272895:G2247S	G	-	1	0	0	ABCA12	215523961	215523961	1.000000	0.71417	0.909000	0.35828	0.181000	0.23173	7.031000	0.76491	2.639000	0.89480	0.555000	0.69702	GGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-3.017825	1	0.170000	NM_173076			133	133		742	717	1		1			0	0	147	0		1	0	0	0	0	0	0	133	742
ABCA12	26154	broad.mit.edu	37	2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2082					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)			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)		CATCCAGGAAAATGTTGCATA	0.438																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(6244-6246)tTt>tCt		ATP-binding cassette, sub-family A (ABC1), member 12							78.0	72.0	74.0					2																	215820074		2203	4300	6503	SO:0001583	missense	26154	0	0					g.chr2:215820074A>G	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.6245T>C	chr2.hg19:g.215820074A>G	ENSP00000272895:p.Phe2082Ser	1					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	p.F2082S	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		43	6464	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.6245T>C	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718292	0.89205	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	D	0.90896	0.4765	10	0.66056	D	0.02	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	2082;1764	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2082;1764	ENSP00000272895:F2082S;ENSP00000374312:F1764S	ENSP00000272895:F2082S	F	-	2	0	0	ABCA12	215528319	215528319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.285000	0.76669	0.528000	0.53228	TTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_173076			92	90		280	273	1		1			0	0	62	0		1	0	0	0	0	0	0	92	280
ABCA12	26154	broad.mit.edu	37	2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					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)			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)		TCCAGACTGTCTTTGTTTAAA	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(5485-5487)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							225.0	200.0	208.0					2																	215838750		2203	4300	6503	SO:0001583	missense	26154	0	0					g.chr2:215838750C>A	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.5485G>T	chr2.hg19:g.215838750C>A	ENSP00000272895:p.Asp1829Tyr	1					ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	p.D1829Y	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		36	5704	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.5485G>T	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.51	-1.58	0.08479	5.51	-1.58	0.08479	.	1.268040	0.05120	N	0.490566	D	0.86188	0.5873	N	0.24115	0.695	0.09310	N	1	P;P	0.45240	0.854;0.744	P;P	0.49999	0.628;0.495	T	0.76833	-0.2813	10	0.66056	D	0.02	.	9.9501	0.41634	0.0:0.5154:0.0:0.4846	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1829;1511	ENSP00000272895:D1829Y;ENSP00000374312:D1511Y	ENSP00000272895:D1829Y	D	-	1	0	0	ABCA12	215546995	215546995	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.124000	0.15728	-0.409000	0.07553	0.557000	0.71058	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_173076			50	50		247	242	1		1			0	0	50	0		1	0	0	0	0	0	0	50	247
ABCA12	26154	broad.mit.edu	37	2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1548	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)			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)		TCCAGGAAGGCGATGCGGTCA	0.512																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.520000	1	6.500000e-01	0.820000	0.822663	0.820000	1.000000																										0				139						c.(4642-4644)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 12							127.0	115.0	119.0					2																	215845305		2203	4300	6503	SO:0001583	missense	26154	1	121412	32				g.chr2:215845305C>T	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.4642G>A	chr2.hg19:g.215845305C>T	ENSP00000272895:p.Ala1548Thr	1					ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	p.A1548T	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		31	4861	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.4642G>A	CCDS33372.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.809464	0.96975	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76060	-0.99;-0.99	5.95	5.95	0.96441	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86705	0.1932	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1548;1230	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1548;1230	ENSP00000272895:A1548T;ENSP00000374312:A1230T	ENSP00000272895:A1548T	A	-	1	0	0	ABCA12	215553550	215553550	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-6.363954	1	0.170000	NM_173076			21	21		313	307	0		1	0		0	0	72	0		9.999974e-01	0	0	0	0	1	0	21	313
ABCA12	26154	broad.mit.edu	37	2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1483	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)			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)		CTTCCTCTTCATGCCTCCTGA	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(4447-4449)aTg>aCg		ATP-binding cassette, sub-family A (ABC1), member 12							169.0	154.0	159.0					2																	215847042		2203	4300	6503	SO:0001583	missense	26154	1	121412	31				g.chr2:215847042A>G	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.4448T>C	chr2.hg19:g.215847042A>G	ENSP00000272895:p.Met1483Thr	1					ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	p.M1483T	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		30	4667	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.4448T>C	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151331	0.57151	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93811	-3.29;-3.29	5.65	5.65	0.86999	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.066415	0.64402	D	0.000004	D	0.96125	0.8737	M	0.79123	2.44	0.80722	D	1	D;B	0.61697	0.99;0.2	P;B	0.61940	0.896;0.142	D	0.96337	0.9248	10	0.62326	D	0.03	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1483;1165	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1483;1165	ENSP00000272895:M1483T;ENSP00000374312:M1165T	ENSP00000272895:M1483T	M	-	2	0	0	ABCA12	215555287	215555287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_173076			90	88		451	446	1		1			0	0	108	0		1	0	0	0	0	0	0	90	451
ABCA12	26154	broad.mit.edu	37	2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1064					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)			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)		TAAGAGACACTGGTTAGGAAG	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(3190-3192)Agt>Cgt		ATP-binding cassette, sub-family A (ABC1), member 12							75.0	73.0	74.0					2																	215862523		2203	4300	6503	SO:0001583	missense	26154	0	0					g.chr2:215862523T>G	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.3190A>C	chr2.hg19:g.215862523T>G	ENSP00000272895:p.Ser1064Arg	1					ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	p.S1064R	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		23	3409	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.3190A>C	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054625	0.75960	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.962	D	0.93109	0.6515	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1064;746	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1064;746	ENSP00000272895:S1064R;ENSP00000374312:S746R	ENSP00000272895:S1064R	S	-	1	0	0	ABCA12	215570768	215570768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.371000	0.80710	0.533000	0.62120	AGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_173076			57	56		268	262	1		1			0	0	54	0		1	0	0	0	0	0	0	57	268
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T	rs558822558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	714					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)			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)		TGTGTTCATTCGGTTGCTTCT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(2140-2142)cGa>cAa		ATP-binding cassette, sub-family A (ABC1), member 12							169.0	163.0	165.0					2																	215876354		2203	4300	6503	SO:0001583	missense	26154	1	121410	35				g.chr2:215876354C>T	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.2141G>A	chr2.hg19:g.215876354C>T	ENSP00000272895:p.Arg714Gln	1					ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	p.R714Q	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		17	2360	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.2141G>A	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421623	0.11928	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.28	3.43	0.39272	5.28	3.43	0.39272	.	0.976699	0.08381	N	0.954575	T	0.78201	0.4246	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.30741	0.293;0.085	B;B	0.26517	0.021;0.07	T	0.64071	-0.6493	10	0.11182	T	0.66	.	7.853	0.29466	0.0:0.7415:0.1669:0.0915	.	714;396	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	714;396	ENSP00000272895:R714Q;ENSP00000374312:R396Q	ENSP00000272895:R714Q	R	-	2	0	0	ABCA12	215584599	215584599	0.058000	0.20735	0.006000	0.13384	0.359000	0.29487	0.249000	0.18216	1.352000	0.45808	0.655000	0.94253	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.224223	1	0.170000	NM_173076			112	112		581	565	1		1			0	0	113	0		1	0	0	0	0	0	0	112	581
ABCA12	26154	broad.mit.edu	37	2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	79					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)			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)		CATTTAGAGTCTGTGTCACAG	0.433																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139						c.(235-237)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							194.0	182.0	186.0					2																	215928871		2203	4300	6503	SO:0001583	missense	26154	0	0					g.chr2:215928871C>A	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.235G>T	chr2.hg19:g.215928871C>A	ENSP00000272895:p.Asp79Tyr	1						p.D79Y	NM_173076.2	NP_775099.2	1	2	3	2.111737	Q86UK0	ABCAC_HUMAN		3	454	-		Renal(323;0.127)	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	1	1	hg19	c.235G>T	CCDS33372.1	1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816495	0.70912	.	.	ENSG00000144452	ENST00000272895	D	0.98512	-4.97	5.65	4.77	0.60923	5.65	4.77	0.60923	.	0.596143	0.16633	N	0.205982	D	0.98277	0.9429	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98008	1.0364	10	0.66056	D	0.02	.	11.6926	0.51525	0.0:0.9166:0.0:0.0834	.	79	Q86UK0	ABCAC_HUMAN	Y	79	ENSP00000272895:D79Y	ENSP00000272895:D79Y	D	-	1	0	0	ABCA12	215637116	215637116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	1.372000	0.46190	0.655000	0.94253	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.222613	1	0.170000	NM_173076			87	86		486	476	1		1			0	0	104	0		1	0	0	0	0	0	0	87	486
ATIC	471	broad.mit.edu	37	2	216191624	216191624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216191624T>C	ENST00000236959.9	+	7	937	c.611T>C	c.(610-612)aTg>aCg	p.M204T	ATIC_ENST00000540518.1_Missense_Mutation_p.M145T|ATIC_ENST00000435675.1_Missense_Mutation_p.M203T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	204					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTATCTCAGATGCCCTTGAGA	0.473			T	ALK	ALCL																																	ENST00000236959.9	1.000000	0.110000	3.000000e-01	1.500000e-01	0.210000	0.286131	0.210000	0.200000				Dom	yes			Dom	yes		2	2q35	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase				L	L	ALK		ALCL	ATIC/ALK(24)	0				8						c.(610-612)aTg>aCg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)						172.0	156.0	161.0					2																	216191624		2203	4300	6503	SO:0001583	missense	471	0	0					g.chr2:216191624T>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.611T>C	chr2.hg19:g.216191624T>C	ENSP00000236959:p.Met204Thr	1					ATIC_ENST00000540518.1_Missense_Mutation_p.M145T|ATIC_ENST00000435675.1_Missense_Mutation_p.M203T	p.M204T	NM_004044.6	NP_004035.2	1	2	3	2.111737	P31939	PUR9_HUMAN		7	937	+		Renal(323;0.229)	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	0	1	hg19	c.611T>C	CCDS2398.1	0	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779289	0.49891	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.86	5.86	0.93980	5.86	5.86	0.93980	Cytidine deaminase-like (1);	0.250429	0.47852	D	0.000213	T	0.73024	0.3534	L	0.37466	1.105	0.48395	D	0.999647	B;B	0.20671	0.027;0.047	B;B	0.37550	0.142;0.253	T	0.70371	-0.4890	10	0.51188	T	0.08	-9.2562	15.9283	0.79639	0.0:0.0:0.0:1.0	.	203;204	E9PBU3;P31939	.;PUR9_HUMAN	T	204;145;203;145	ENSP00000236959:M204T;ENSP00000440523:M145T;ENSP00000415935:M203T;ENSP00000402393:M145T	ENSP00000236959:M204T	M	+	2	0	0	ATIC	215899869	215899869	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	7.903000	0.87398	2.240000	0.73641	0.533000	0.62120	ATG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-3.021231	1	0.170000	NM_004044			13	13		800	789	0		1	1		0	0	136	0		9.994873e-01	7.619820e-01	0	6	0	164	0	13	800
ATIC	471	broad.mit.edu	37	2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000236959.9	+	14	1718	c.1392T>G	c.(1390-1392)taT>taG	p.Y464*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*|ATIC_ENST00000435675.1_Nonsense_Mutation_p.Y463*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	464					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453			T	ALK	ALCL																																	ENST00000236959.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q35	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase				L	L	ALK		ALCL	ATIC/ALK(24)	0				8						c.(1390-1392)taT>taG		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)						179.0	159.0	166.0					2																	216211553		2203	4300	6503	SO:0001587	stop_gained	471	0	0					g.chr2:216211553T>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1392T>G	chr2.hg19:g.216211553T>G	ENSP00000236959:p.Tyr464*	1					ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*|ATIC_ENST00000435675.1_Nonsense_Mutation_p.Y463*	p.Y464*	NM_004044.6	NP_004035.2	1	2	3	2.111737	P31939	PUR9_HUMAN		14	1718	+		Renal(323;0.229)	A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	0	1	hg19	c.1392T>G	CCDS2398.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.149877|3.149877	0.57151|0.57151	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	-2.44|-2.44	0.06502|0.06502	5.8|5.8	-2.44|-2.44	0.06502|0.06502	.|.	.|0.889155	.|0.09970	.|N	.|0.732367	T|.	0.56949|.	0.2020|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65713|.	-0.6101|.	3|.	.|0.46703	.|T	.|0.11	5.5651|5.5651	14.3989|14.3989	0.67029|0.67029	0.0:0.6062:0.0:0.3938|0.0:0.6062:0.0:0.3938	.|.	.|.	.|.	.|.	V|X	158;133|464;405;463	.|.	.|ENSP00000236959:Y464X	L|Y	+|+	1|3	2|2	2|2	ATIC|ATIC	215919798|215919798	215919798|215919798	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.864000|0.864000	0.49448|0.49448	-0.106000|-0.106000	0.10890|0.10890	-0.576000|-0.576000	0.05974|0.05974	-0.280000|-0.280000	0.10049|0.10049	TTG|TAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_004044			182	181		439	435	1		1	1		0	0	98	0		1	1	0	16	0	197	0	182	439
FN1	2335	broad.mit.edu	37	2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000359671.1	-	37	6060	c.5795G>A	c.(5794-5796)gGc>gAc	p.G1932D	FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000354785.4_Missense_Mutation_p.G2023D			P02751	FINC_HUMAN	fibronectin 1	1932	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)		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)	GATGATGTAGCCGGTAATCCT	0.552																																						ENST00000359671.1	1.000000	0.400000	8.600000e-01	5.100000e-01	0.650000	0.681028	0.650000	0.630000																									FN1/ALK(2)	0				109						c.(5794-5796)gGc>gAc		fibronectin 1	Ocriplasmin(DB08888)						65.0	68.0	67.0					2																	216240026		2203	4300	6503	SO:0001583	missense	2335	0	0					g.chr2:216240026C>T		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.5795G>A	chr2.hg19:g.216240026C>T	ENSP00000352696:p.Gly1932Asp	1					FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000354785.4_Missense_Mutation_p.G2023D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D	p.G1932D			1	2	3	2.111737	P02751	FINC_HUMAN		37	6060	-		Renal(323;0.127)	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	1	1	hg19	c.5795G>A		0	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765785	0.90020	.	.	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	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.80265	0.4591	M	0.86028	2.79	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82780	-0.0288	10	0.87932	D	0	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	1723;1932;1933;2023;1842;1842;1932;1932;1933;1842;1842;2023;1932	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1842;2023;1932;1842;2023;1933;1932;1932;1932;1932;1932;1842;1933;1842;649;51	ENSP00000394423:G1842D;ENSP00000323534:G2023D;ENSP00000338200:G1932D;ENSP00000350534:G1842D;ENSP00000346839:G2023D;ENSP00000352696:G1932D;ENSP00000265312:G1932D;ENSP00000273049:G1932D;ENSP00000349509:G1932D;ENSP00000410422:G1932D;ENSP00000415018:G1842D;ENSP00000399538:G1933D;ENSP00000348285:G1842D;ENSP00000416139:G649D;ENSP00000392565:G51D	ENSP00000265313:G1933D	G	-	2	0	0	FN1	215948271	215948271	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.040000	0.70980	2.637000	0.89404	0.563000	0.77884	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-19.939560	1	0.170000	NM_212476			20	20		383	380	0		1	0		0	0	75	0		9.999952e-01	1	0	0	0	6355	0	20	383
FN1	2335	broad.mit.edu	37	2	216249593	216249593	+	Silent	SNP	G	G	A	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000359671.1	-	28	4711	c.4446C>T	c.(4444-4446)taC>taT	p.Y1482Y	FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000354785.4_Silent_p.Y1573Y			P02751	FINC_HUMAN	fibronectin 1	1482	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		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)	CTGTCTCTCCGTAAGTGATCC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		15606	0.0		0.0	False		,,,				2504	0.001					ENST00000359671.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																									FN1/ALK(2)	0				109						c.(4444-4446)taC>taT		fibronectin 1	Ocriplasmin(DB08888)	G	,,,,	0,4406		0,0,2203	67.0	63.0	64.0		4446,4446,4446,4446,4719	0.9	1.0	2	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	1482/2356,1482/2177,1482/2297,1482/2331,1573/2478	216249593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2335	12	121412	41				g.chr2:216249593G>A		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.4446C>T	chr2.hg19:g.216249593G>A		1					FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000354785.4_Silent_p.Y1573Y|FN1_ENST00000443816.1_Silent_p.Y1482Y	p.Y1482Y			1	2	3	2.111737	P02751	FINC_HUMAN		28	4711	-		Renal(323;0.127)	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	0	1	hg19	c.4446C>T		1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	1		15	186	2	1		1	1	67		67	67	1	2.060000	-18.812600	1	0.170000	NM_212476			40	38		243	241	1		1	0		1	0	67	0		9.998857e-01	1	0	1	0	5646	0	40	243
FN1	2335	broad.mit.edu	37	2	216251446	216251446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000359671.1	-	27	4570	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000354785.4_Silent_p.E1526E			P02751	FINC_HUMAN	fibronectin 1	1435	Cell-attachment.|Fibronectin type-III 9. {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)		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)	AGGGACTTTCCTCTCTGCCAT	0.468																																						ENST00000359671.1	1.000000	0.470000	1	6.200000e-01	0.810000	0.807913	0.810000	1.000000																									FN1/ALK(2)	0				109						c.(4303-4305)gaG>gaA		fibronectin 1	Ocriplasmin(DB08888)						85.0	78.0	81.0					2																	216251446		2203	4300	6503	SO:0001819	synonymous_variant	2335	3	121412	35				g.chr2:216251446C>T		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.4305G>A	chr2.hg19:g.216251446C>T		1					FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000354785.4_Silent_p.E1526E|FN1_ENST00000443816.1_Silent_p.E1435E	p.E1435E			1	2	3	2.111737	P02751	FINC_HUMAN		27	4570	-		Renal(323;0.127)	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	1	1	hg19	c.4305G>A		0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.018924	1	0.170000	NM_212476			16	16		245	235	0		1	0		0	0	53	0		9.999192e-01	1	0	0	0	6487	0	16	245
FN1	2335	broad.mit.edu	37	2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000359671.1	-	6	1061	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000354785.4_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				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)		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)	TTCCACTCTCCTCGGCCGTTG	0.552																																						ENST00000359671.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									FN1/ALK(2)	0				109						c.(796-798)Gga>Tga		fibronectin 1	Ocriplasmin(DB08888)						127.0	108.0	114.0					2																	216292951		2203	4300	6503	SO:0001587	stop_gained	2335	0	0					g.chr2:216292951C>A		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.796G>T	chr2.hg19:g.216292951C>A	ENSP00000352696:p.Gly266*	1					FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000354785.4_Nonsense_Mutation_p.G266*	p.G266*			1	2	3	2.111737	P02751	FINC_HUMAN		6	1061	-		Renal(323;0.127)	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	0	1	hg19	c.796G>T		1	.	.	.	.	.	.	.	.	.	.	C	41	9.094722	0.99064	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000265313:G266X	G	-	1	0	0	FN1	216001196	216001196	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.248734	1	0.170000	NM_212476			78	78		346	337	0		1	0		0	0	101	0		1	1	0	0	0	3769	0	78	346
XRCC5	7520	broad.mit.edu	37	2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	36					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438								Non-homologous end-joining																														ENST00000392133.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(106-108)aAg>aGg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							147.0	145.0	145.0					2																	216977824		2203	4300	6503	SO:0001583	missense	7520	0	0					g.chr2:216977824A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.107A>G	chr2.hg19:g.216977824A>G	ENSP00000375978:p.Lys36Arg	1					XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R	p.K36R			1	2	3	2.111737	P13010	XRCC5_HUMAN		4	568	+		Renal(323;0.0328)	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	1	1	hg19	c.107A>G	CCDS2402.1	1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486462	0.26686	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29917	1.55;1.55	5.12	5.12	0.69794	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.29353	0.101	T	0.12400	-1.0549	10	0.36615	T	0.2	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	36	P13010	XRCC5_HUMAN	R	36;36;23	ENSP00000375978:K36R;ENSP00000375977:K36R	ENSP00000375977:K36R	K	+	2	0	0	XRCC5	216686069	216686069	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	6.704000	0.74639	2.150000	0.67090	0.533000	0.62120	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_021141			73	73		372	360	1		1	1		0	0	81	0		1	1	0	186	0	730	0	73	372
XRCC5	7520	broad.mit.edu	37	2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363								Non-homologous end-joining																														ENST00000392133.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1282-1284)Gaa>Aaa	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							109.0	105.0	106.0					2																	217002842		2203	4300	6503	SO:0001583	missense	7520	0	0					g.chr2:217002842G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1282G>A	chr2.hg19:g.217002842G>A	ENSP00000375978:p.Glu428Lys	1					XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K	p.E428K			1	2	3	2.111737	P13010	XRCC5_HUMAN		14	1743	+		Renal(323;0.0328)	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	1	1	hg19	c.1282G>A	CCDS2402.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.668745	0.96754	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80696	-0.1267	10	0.72032	D	0.01	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	428	P13010	XRCC5_HUMAN	K	428	ENSP00000375978:E428K;ENSP00000375977:E428K	ENSP00000375977:E428K	E	+	1	0	0	XRCC5	216711087	216711087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.333000	0.96459	2.606000	0.88127	0.655000	0.94253	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.148436	1	0.170000	NM_021141			51	51		285	280	1		1	1		0	0	58	0		1	1	0	196	0	741	0	51	285
MARCH4	57574	broad.mit.edu	37	2	217234861	217234861	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	41						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652																																						ENST00000273067.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(121-123)cgC>cgA		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase																																				SO:0001819	synonymous_variant	57574	0	0					g.chr2:217234861G>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.123C>A	chr2.hg19:g.217234861G>T		1						p.R41R	NM_020814.2	NP_065865.1	1	2	3	2.111737	Q9P2E8	MARH4_HUMAN		1	1889	-		Renal(323;0.0854)	Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	1	1	hg19	c.123C>A	CCDS33376.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_020814			23	23		79	77	1		1			0	0	13	0		9.999997e-01	0	0	0	0	0	0	23	79
SMARCAL1	50485	broad.mit.edu	37	2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	157					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)			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)		ATCAGGTTCACACCCTTTGCT	0.507									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(469-471)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							131.0	124.0	126.0					2																	217279897		2203	4300	6503	SO:0001583	missense	50485	0	0		Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	g.chr2:217279897C>T	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.470C>T	chr2.hg19:g.217279897C>T	ENSP00000349823:p.Thr157Ile	1					AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	p.T157I	NM_014140.3	NP_054859.2	1	2	3	2.111737	Q9NZC9	SMAL1_HUMAN		3	800	+		Renal(323;0.0458)	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	1	1	hg19	c.470C>T	CCDS2403.1	1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144706	0.21288	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.87103	1.95;1.95;1.27;-2.21	4.69	1.94	0.25998	4.69	1.94	0.25998	.	0.444855	0.22869	N	0.054653	T	0.74574	0.3734	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.52906	T	0.07	.	9.1742	0.37100	0.0:0.7637:0.0:0.2363	.	157	Q9NZC9	SMAL1_HUMAN	I	157;157;56;21	ENSP00000349823:T157I;ENSP00000350940:T157I;ENSP00000392997:T56I;ENSP00000375974:T21I	ENSP00000349823:T157I	T	+	2	0	0	SMARCAL1	216988142	216988142	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.432000	0.21461	0.234000	0.21139	-0.137000	0.14449	ACA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1		15	2	2	0		0	1	141		141	140	1	2.060000	-20.000000	1	0.170000				147	148		433	430	1		1	1		0	0	141	0		1	9.999999e-01	0	32	0	37	0	147	433
SMARCAL1	50485	broad.mit.edu	37	2	217285059	217285059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	300	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				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)			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)		TCAACCTGCAGCCTCTGGAAT	0.547									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4	1.000000	0.590000	1	7.700000e-01	0.990000	0.915378	0.990000	1.000000																										0				42						c.(898-900)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							56.0	48.0	51.0					2																	217285059		2203	4300	6503	SO:0001819	synonymous_variant	50485	0	0		Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	g.chr2:217285059G>A	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.900G>A	chr2.hg19:g.217285059G>A		1					SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	p.Q300Q	NM_014140.3	NP_054859.2	1	2	3	2.111737	Q9NZC9	SMAL1_HUMAN		5	1230	+		Renal(323;0.0458)	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	1	1	hg19	c.900G>A	CCDS2403.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-19.968190	1	0.170000				16	16		194	192	1		1	1		0	0	30	0		9.999395e-01	9.801095e-01	0	9	0	72	0	16	194
SMARCAL1	50485	broad.mit.edu	37	2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	305					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)			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)		CTGGAATGGGCCTATGGCAGC	0.557									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(913-915)gCc>gTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							65.0	54.0	58.0					2																	217285073		2203	4300	6503	SO:0001583	missense	50485	0	0		Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	g.chr2:217285073C>T	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.914C>T	chr2.hg19:g.217285073C>T	ENSP00000349823:p.Ala305Val	1					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	p.A305V	NM_014140.3	NP_054859.2	1	2	3	2.111737	Q9NZC9	SMAL1_HUMAN		5	1244	+		Renal(323;0.0458)	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	1	1	hg19	c.914C>T	CCDS2403.1	1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275953	0.23307	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85339	-1.97;-1.97;1.56;-1.97;0.72	4.64	2.32	0.28847	4.64	2.32	0.28847	.	0.819538	0.11443	N	0.563539	T	0.74733	0.3755	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55860	-0.8074	10	0.15499	T	0.54	-5.0496	4.8631	0.13594	0.1799:0.6625:0.0:0.1575	.	305	Q9NZC9	SMAL1_HUMAN	V	305;305;204;169;25	ENSP00000349823:A305V;ENSP00000350940:A305V;ENSP00000392997:A204V;ENSP00000375974:A169V;ENSP00000390248:A25V	ENSP00000349823:A305V	A	+	2	0	0	SMARCAL1	216993318	216993318	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	-0.040000	0.12104	0.327000	0.23409	0.561000	0.74099	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	0		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				52	50		170	169	1		1	1		0	0	33	0		1	9.999989e-01	0	23	0	48	0	52	170
SMARCAL1	50485	broad.mit.edu	37	2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					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)			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)		TGCCAAGCAGCGCAAGATAGT	0.587									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1975-1977)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	61.0	61.0		1975,1975	5.5	1.0	2	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	659/955,659/955	217315692	1,13005	2203	4300	6503	SO:0001583	missense	50485	1	121412	28	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	g.chr2:217315692C>T	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.1975C>T	chr2.hg19:g.217315692C>T	ENSP00000349823:p.Arg659Cys	1					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	p.R659C	NM_014140.3	NP_054859.2	1	2	3	2.111737	Q9NZC9	SMAL1_HUMAN		12	2305	+		Renal(323;0.0458)	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	1	1	hg19	c.1975C>T	CCDS2403.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.126659	0.94429	2.27E-4	0.0	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92858	-3.12;-3.12;-0.99	5.47	5.47	0.80525	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:1.0:0.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	C	659;659;501	ENSP00000349823:R659C;ENSP00000350940:R659C;ENSP00000375974:R501C	ENSP00000349823:R659C	R	+	1	0	0	SMARCAL1	217023937	217023937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.897000	0.69831	2.559000	0.86315	0.650000	0.86243	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				88	86		260	255	1		1	1		0	0	55	0		1	1	0	61	0	99	0	88	260
SMARCAL1	50485	broad.mit.edu	37	2	217341855	217341855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	ENST00000357276.4	+	16	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	SMARCAL1_ENST00000358207.5_Silent_p.R817R|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	817	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			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)		CTGAGGACCGCGTGCACCGCA	0.567									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.996242	0.990000	1.000000																										0				42						c.(2449-2451)cgC>cgT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							93.0	74.0	80.0					2																	217341855		2202	4298	6500	SO:0001819	synonymous_variant	50485	3	121010	26	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	g.chr2:217341855C>T	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.2451C>T	chr2.hg19:g.217341855C>T		1					SMARCAL1_ENST00000358207.5_Silent_p.R817R|AC098820.3_ENST00000453157.1_RNA	p.R817R	NM_014140.3	NP_054859.2	1	2	3	2.111737	Q9NZC9	SMAL1_HUMAN		16	2781	+		Renal(323;0.0458)	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	0	1	hg19	c.2451C>T	CCDS2403.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-13.399720	1	0.170000				6	6		26	25	1		1	1		0	0	11	0		9.669426e-01	9.999348e-01	0	30	0	96	0	6	26
IGFBP2	3485	broad.mit.edu	37	2	217526595	217526595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000233809.4	+	3	816	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_ENST00000456764.1_Silent_p.Q85Q	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	229	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647																																						ENST00000233809.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(685-687)caG>caA		insulin-like growth factor binding protein 2, 36kDa							45.0	51.0	49.0					2																	217526595		2177	4273	6450	SO:0001819	synonymous_variant	3485	0	0					g.chr2:217526595G>A		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.687G>A	chr2.hg19:g.217526595G>A		1					IGFBP2_ENST00000456764.1_Silent_p.Q85Q	p.Q229Q	NM_000597.2	NP_000588	1	2	3	2.111737	P18065	IBP2_HUMAN		3	816	+		Renal(323;0.0458)	Q14619|Q9UCL3	Silent	SNP	ENST00000233809.4	1	0	hg19	c.687G>A	CCDS42815.1	1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733021	0.48939	.	.	ENSG00000115457	ENST00000436812	.	.	.	4.6	0.0849	0.14439	4.6	0.0849	0.14439	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64296	-0.6441	5	0.87932	D	0	-4.1961	9.88	0.41227	0.2733:0.0:0.7267:0.0	.	.	.	.	K	52	.	ENSP00000400308:R52K	R	+	2	0	0	IGFBP2	217234840	217234840	1.000000	0.71417	0.846000	0.33378	0.969000	0.65631	5.169000	0.64984	-0.102000	0.12197	0.655000	0.94253	AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.615448	1	0.170000	NM_000597			42	42		163	162	1		1	1		0	0	54	0		1	1	0	54	0	1144	0	42	163
IGFBP5	3488	broad.mit.edu	37	2	217543756	217543756	+	Silent	SNP	G	G	A	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	128					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632																																						ENST00000233813.4	1.000000	0.580000	1	7.000000e-01	0.860000	0.855831	0.860000	1.000000																										0				5						c.(382-384)gcC>gcT		insulin-like growth factor binding protein 5		G		0,4406		0,0,2203	79.0	72.0	74.0		384	-10.1	0.2	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFBP5	NM_000599.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/273	217543756	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3488	5	121412	42				g.chr2:217543756G>A		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.384C>T	chr2.hg19:g.217543756G>A		1						p.A128A	NM_000599.3	NP_000590.1	1	2	3	2.111737	P24593	IBP5_HUMAN		2	1133	-		Renal(323;0.0822)	Q5U0A3	Silent	SNP	ENST00000233813.4	1	1	hg19	c.384C>T	CCDS2405.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.142677	1	0.170000	NM_000599			28	28		394	388	0		1	0		0	0	76	0		1	1	0	1	0	2040	0	28	394
IGFBP5	3488	broad.mit.edu	37	2	217559274	217559274	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	ENST00000233813.4	-	1	974	c.225C>A	c.(223-225)gcC>gcA	p.A75A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	75	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCCTGGGCGCAGCGCT	0.726																																						ENST00000233813.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999748	0.990000	1.000000																										0				5						c.(223-225)gcC>gcA		insulin-like growth factor binding protein 5							4.0	5.0	5.0					2																	217559274		1873	3748	5621	SO:0001819	synonymous_variant	3488	0	0					g.chr2:217559274G>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.225C>A	chr2.hg19:g.217559274G>T		1					AC007563.5_ENST00000447289.1_RNA	p.A75A	NM_000599.3	NP_000590.1	1	2	3	2.111737	P24593	IBP5_HUMAN		1	974	-		Renal(323;0.0822)	Q5U0A3	Silent	SNP	ENST00000233813.4	0	1	hg19	c.225C>A	CCDS2405.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.999990	1	0.170000	NM_000599			10	9		37	36	0		1	0		0	0	8	0		9.973920e-01	9.999748e-01	0	0	0	94	0	10	37
TNS1	7145	broad.mit.edu	37	2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000171887.4	-	17	1594	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	381					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)			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)		GGCATTAACAGCCCCGGTGCT	0.602																																						ENST00000171887.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1141-1143)gCt>gTt		tensin 1							162.0	155.0	158.0					2																	218713723		2203	4300	6503	SO:0001583	missense	7145	0	0					g.chr2:218713723G>A	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.1142C>T	chr2.hg19:g.218713723G>A	ENSP00000171887:p.Ala381Val	1					TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V	p.A381V	NM_022648.4	NP_072174.3	1	2	3	2.111737	Q9HBL0	TENS1_HUMAN		17	1594	-		Renal(207;0.0483)|Lung NSC(271;0.213)	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	1	1	hg19	c.1142C>T	CCDS2407.1	1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342895	0.24339	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95949	-2.97;-2.96;-2.97;-3.44;-3.86	5.17	2.34	0.29019	5.17	2.34	0.29019	.	0.976044	0.08411	N	0.949829	D	0.93109	0.7806	L	0.54323	1.7	0.21652	N	0.999606	B;B;B;B;B	0.17667	0.002;0.006;0.023;0.003;0.003	B;B;B;B;B	0.18263	0.003;0.011;0.021;0.002;0.002	D	0.85020	0.0911	10	0.62326	D	0.03	.	8.059	0.30623	0.144:0.1316:0.7243:0.0	.	381;435;381;381;381	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	381;381;381;506;449	ENSP00000171887:A381V;ENSP00000408724:A381V;ENSP00000406016:A381V;ENSP00000405460:A506V;ENSP00000400383:A449V	ENSP00000171887:A381V	A	-	2	0	0	TNS1	218421968	218421968	0.942000	0.31987	0.110000	0.21437	0.824000	0.46624	3.924000	0.56476	0.318000	0.23185	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	1		2	2	2	0		0	0	210		210	202	1	2.060000	-20.000000	1	0.170000	NM_022648			199	195		986	963	1		1	1		0	0	210	0		1	1	0	5	0	201	0	199	986
TNS1	7145	broad.mit.edu	37	2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000171887.4	-	14	1281	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000430930.1_Missense_Mutation_p.G277R|TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			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)		AAGACAACCCCCAGGTCATGG	0.587																																						ENST00000171887.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(829-831)Ggg>Agg		tensin 1							131.0	107.0	115.0					2																	218749800		2203	4300	6503	SO:0001583	missense	7145	0	0					g.chr2:218749800C>T	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.829G>A	chr2.hg19:g.218749800C>T	ENSP00000171887:p.Gly277Arg	1					TNS1_ENST00000419504.1_Missense_Mutation_p.G277R|TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R	p.G277R	NM_022648.4	NP_072174.3	1	2	3	2.111737	Q9HBL0	TENS1_HUMAN		14	1281	-		Renal(207;0.0483)|Lung NSC(271;0.213)	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	1	1	hg19	c.829G>A	CCDS2407.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533073|1.533073	0.27387|0.27387	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.83|4.83	3.96|3.96	0.45880|0.45880	4.83|4.83	3.96|3.96	0.45880|0.45880	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	D|D	0.83238|0.83238	0.5211|0.5211	N|N	0.16130|0.16130	0.375|0.375	0.43977|0.43977	D|D	0.996663|0.996663	.|P;B;B;D;D;D	.|0.69078	.|0.9;0.036;0.02;0.994;0.991;0.997	.|P;B;B;D;D;D	.|0.69824	.|0.493;0.105;0.038;0.966;0.93;0.955	T|T	0.79356|0.79356	-0.1837|-0.1837	5|9	.|0.17369	.|T	.|0.5	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	.|277;331;308;277;277;277	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	E|R	52|277;277;277;402;345;308	.|ENSP00000171887:G277R;ENSP00000408724:G277R;ENSP00000406016:G277R;ENSP00000405460:G402R;ENSP00000400383:G345R;ENSP00000308321:G308R	.|ENSP00000171887:G277R	G|G	-|-	2|1	0|0	0|0	TNS1|TNS1	218458045|218458045	218458045|218458045	0.467000|0.467000	0.25831|0.25831	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.458000|2.458000	0.45014|0.45014	1.249000|1.249000	0.43950|0.43950	0.563000|0.563000	0.77884|0.77884	GGG|GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.287485	1	0.170000	NM_022648			79	79		311	302	1		1	1		0	0	86	0		1	1	0	4	0	234	0	79	311
TNS1	7145	broad.mit.edu	37	2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000171887.4	-	9	844	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000430930.1_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			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)		AGAAATGTTGCTGTAGTGCAT	0.542																																						ENST00000171887.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(391-393)aGc>aTc		tensin 1							106.0	95.0	99.0					2																	218757686		2203	4300	6503	SO:0001583	missense	7145	0	0					g.chr2:218757686C>A	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.392G>T	chr2.hg19:g.218757686C>A	ENSP00000171887:p.Ser131Ile	1					TNS1_ENST00000419504.1_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I	p.S131I	NM_022648.4	NP_072174.3	1	2	3	2.111737	Q9HBL0	TENS1_HUMAN		9	844	-		Renal(207;0.0483)|Lung NSC(271;0.213)	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	1	1	hg19	c.392G>T	CCDS2407.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179967	0.78564	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.5	4.5	0.54988	4.5	4.5	0.54988	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.994;0.902;1.0;0.998;0.998	D;D;P;D;D;P	0.85130	0.963;0.92;0.696;0.997;0.991;0.878	D	0.99816	1.1044	10	0.87932	D	0	.	17.3447	0.87307	0.0:1.0:0.0:0.0	.	131;185;162;131;131;131	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	131;131;131;256;199;162	ENSP00000171887:S131I;ENSP00000408724:S131I;ENSP00000406016:S131I;ENSP00000405460:S256I;ENSP00000400383:S199I;ENSP00000308321:S162I	ENSP00000171887:S131I	S	-	2	0	0	TNS1	218465931	218465931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.486000	0.83907	0.563000	0.77884	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_022648			53	52		227	223	1		1	1		0	0	80	0		1	1	0	3	0	213	0	53	227
CXCR2	3579	broad.mit.edu	37	2	219000157	219000157	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	ENST00000318507.2	+	3	1060	c.633A>G	c.(631-633)ttA>ttG	p.L211L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	211					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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCTGTTACGGATCCTGC	0.537																																						ENST00000318507.2	1.000000	0.690000	1	7.900000e-01	0.910000	0.902122	0.910000	1.000000																										0				22						c.(631-633)ttA>ttG		chemokine (C-X-C motif) receptor 2							132.0	121.0	125.0					2																	219000157		2203	4300	6503	SO:0001819	synonymous_variant	3579	0	0					g.chr2:219000157A>G	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.633A>G	chr2.hg19:g.219000157A>G		1						p.L211L	NM_001557.3	NP_001548.1	1	2	3	2.111737	P25025	CXCR2_HUMAN		3	1060	+			Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	1	1	hg19	c.633A>G	CCDS2408.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	0	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_001557			55	54		720	711	0		1	0		0	0	121	0		1	2.862612e-02	0	0	0	4	0	55	720
CXCR1	3577	broad.mit.edu	37	2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	232					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CCCCATGTGGGCCTTAAACAG	0.562																																						ENST00000295683.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(694-696)gCc>gTc		chemokine (C-X-C motif) receptor 1	Ketoprofen(DB01009)						135.0	125.0	129.0					2																	219029240		2203	4300	6503	SO:0001583	missense	3577	0	0					g.chr2:219029240G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.695C>T	chr2.hg19:g.219029240G>A	ENSP00000295683:p.Ala232Val	1						p.A232V	NM_000634.2	NP_000625.1	1	2	3	2.111737	P25024	CXCR1_HUMAN		2	815	-			B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	1	1	hg19	c.695C>T	CCDS2409.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615895	0.46631	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	4.56	4.56	0.56223	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.108387	0.64402	D	0.000006	T	0.44871	0.1314	L	0.59436	1.845	0.24168	N	0.995634	P	0.38745	0.645	P	0.46419	0.516	T	0.44360	-0.9333	10	0.59425	D	0.04	.	6.8765	0.24149	0.0959:0.18:0.7241:0.0	.	232	P25024	CXCR1_HUMAN	V	232;176	ENSP00000295683:A232V	ENSP00000295683:A232V	A	-	2	0	0	CXCR1	218737485	218737485	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	6.300000	0.72776	2.210000	0.71456	0.561000	0.74099	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	1	0	0		2	2	2	0		0	0	138		138	135	1	2.060000	-20.000000	1	0.170000	NM_000634			174	168		604	595	1		1			0	0	138	0		1	0	0	0	0	0	0	174	604
ARPC2	10109	broad.mit.edu	37	2	219099092	219099092	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	80					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)			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)		AGAGGGTGTACGGGAGTTTCT	0.328																																						ENST00000295685.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(238-240)taC>taT		actin related protein 2/3 complex, subunit 2, 34kDa							125.0	129.0	128.0					2																	219099092		2203	4300	6503	SO:0001819	synonymous_variant	10109	1	121412	23				g.chr2:219099092C>T	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.240C>T	chr2.hg19:g.219099092C>T		1					ARPC2_ENST00000315717.5_Silent_p.Y80Y	p.Y80Y	NM_005731.2	NP_005722.1	1	2	3	2.111737	O15144	ARPC2_HUMAN		4	501	+		Renal(207;0.0474)	Q92801|Q9P1D4	Silent	SNP	ENST00000295685.10	1	1	hg19	c.240C>T	CCDS2410.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_005731			126	125		412	406	0		1	1		0	0	99	0		1	1	0	410	0	1425	0	126	412
ARPC2	10109	broad.mit.edu	37	2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	112					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)			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)		TTGTGCATCAAGCTGGCATGT	0.403																																						ENST00000295685.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(334-336)caA>caC		actin related protein 2/3 complex, subunit 2, 34kDa							145.0	145.0	145.0					2																	219103454		2203	4300	6503	SO:0001583	missense	10109	0	0					g.chr2:219103454A>C	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.336A>C	chr2.hg19:g.219103454A>C	ENSP00000295685:p.Gln112His	1					ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H|ARPC2_ENST00000477992.1_3'UTR	p.Q112H	NM_005731.2	NP_005722.1	1	2	3	2.111737	O15144	ARPC2_HUMAN		5	597	+		Renal(207;0.0474)	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	1	1	hg19	c.336A>C	CCDS2410.1	1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437524	0.43224	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.48	0.30137	5.52	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.45137	1.4	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35201	-0.9798	9	0.52906	T	0.07	.	8.7287	0.34485	0.3803:0.0:0.6197:0.0	.	112	O15144	ARPC2_HUMAN	H	112	.	ENSP00000295685:Q112H	Q	+	3	2	2	ARPC2	218811699	218811699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.991000	0.49409	0.325000	0.23359	-0.376000	0.06991	CAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	1	0	1		2	2	2	0		0	0	165		165	163	1	2.060000	-20.000000	1	0.170000	NM_005731			239	234		692	667	1		1	1		0	0	165	0		1	1	0	573	0	1837	0	239	692
VIL1	7429	broad.mit.edu	37	2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	333	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGTGCAGAATGATGG	0.577																																						ENST00000248444.5	1.000000	0.450000	9.600000e-01	5.700000e-01	0.730000	0.747926	0.730000	1.000000																										0				41						c.(997-999)Cag>Tag		villin 1							84.0	76.0	79.0					2																	219295496		2203	4300	6503	SO:0001587	stop_gained	7429	0	0					g.chr2:219295496C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.997C>T	chr2.hg19:g.219295496C>T	ENSP00000248444:p.Gln333*	1					VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	p.Q333*	NM_007127.2	NP_009058.2	1	2	3	2.111737	P09327	VILI_HUMAN		10	1085	+		Renal(207;0.0474)	B2R9A7|Q53S11|Q96AC8	Nonsense_Mutation	SNP	ENST00000248444.5	0	1	hg19	c.997C>T	CCDS2417.1	0	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401785	0.62288	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	.	.	.	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.173549	0.36303	N	0.002661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.7601	11.3415	0.49535	0.0:0.6425:0.3575:0.0	.	.	.	.	X	333;22;333	.	ENSP00000248444:Q333X	Q	+	1	0	0	VIL1	219003740	219003740	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.972000	0.49256	2.154000	0.67381	0.462000	0.41574	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.994580	1	0.170000	NM_007127			20	20		340	326	0		1	0		0	0	60	0		9.999936e-01	3.223636e-01	0	0	0	20	0	20	340
USP37	57695	broad.mit.edu	37	2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000258399.3	-	11	1387	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*|USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	325					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423																																						ENST00000258399.3	1.000000	0.770000	1	9.000000e-01	0.990000	0.966015	0.990000	1.000000																										0				35						c.(973-975)tgG>tgA		ubiquitin specific peptidase 37							114.0	115.0	114.0					2																	219374752		2203	4300	6503	SO:0001587	stop_gained	57695	0	0					g.chr2:219374752C>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.975G>A	chr2.hg19:g.219374752C>T	ENSP00000258399:p.Trp325*	1					USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*	p.W325*	NM_020935.2	NP_065986	1	2	3	2.111737	Q86T82	UBP37_HUMAN		11	1387	-		Renal(207;0.0915)	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Nonsense_Mutation	SNP	ENST00000258399.3	0	1	hg19	c.975G>A	CCDS2418.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.418739	0.98272	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6154	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;253;325	.	ENSP00000258399:W325X	W	-	3	0	0	USP37	219082996	219082996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.108000	0.64609	2.753000	0.94483	0.467000	0.42956	TGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-2.920853	1	0.170000	NM_020935			44	44		493	482	0		1	0		0	0	85	0		1	3.273668e-01	0	0	0	14	0	44	493
PLCD4	84812	broad.mit.edu	37	2	219494329	219494329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000450993.2	+	8	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	354	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602																																						ENST00000450993.2	1.000000	0.580000	1	7.700000e-01	0.990000	0.917593	0.990000	1.000000																										0				23						c.(1060-1062)ctG>ctA		phospholipase C, delta 4							63.0	70.0	67.0					2																	219494329		2100	4213	6313	SO:0001819	synonymous_variant	84812	0	0					g.chr2:219494329G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1062G>A	chr2.hg19:g.219494329G>A		1					PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	p.L354L	NM_032726.3	NP_116115.1	1	2	3	2.111737	Q9BRC7	PLCD4_HUMAN		8	1401	+		Renal(207;0.0915)	Q53FS8	Silent	SNP	ENST00000450993.2	1	1	hg19	c.1062G>A	CCDS46516.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-18.912620	1	0.170000				14	14		167	164	0		1	0		0	0	33	0		9.997662e-01	0	0	0	0	1	0	14	167
PLCD4	84812	broad.mit.edu	37	2	219497008	219497008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000450993.2	+	10	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000417849.1_Silent_p.Q474Q|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.Q474Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	474					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478																																						ENST00000450993.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1420-1422)caG>caA		phospholipase C, delta 4							51.0	55.0	54.0					2																	219497008		1946	4150	6096	SO:0001819	synonymous_variant	84812	0	0					g.chr2:219497008G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1422G>A	chr2.hg19:g.219497008G>A		1					PLCD4_ENST00000417849.1_Silent_p.Q474Q|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.Q474Q	p.Q474Q	NM_032726.3	NP_116115.1	1	2	3	2.111737	Q9BRC7	PLCD4_HUMAN		10	1761	+		Renal(207;0.0915)	Q53FS8	Silent	SNP	ENST00000450993.2	1	1	hg19	c.1422G>A	CCDS46516.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				31	30		62	60	1		1	0		0	0	21	0		1	1.157895e-01	0	0	0	2	0	31	62
PLCD4	84812	broad.mit.edu	37	2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A	rs371174811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000450993.2	+	11	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	530	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.001					ENST00000450993.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1588-1590)cGc>cAc		phospholipase C, delta 4		G	HIS/ARG	0,3796		0,0,1898	55.0	51.0	52.0		1589	1.2	1.0	2		52	2,8240		0,2,4119	no	missense	PLCD4	NM_032726.3	29	0,2,6017	AA,AG,GG		0.0243,0.0,0.0166	possibly-damaging	530/763	219498467	2,12036	1898	4121	6019	SO:0001583	missense	84812	14	120844	42				g.chr2:219498467G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1589G>A	chr2.hg19:g.219498467G>A	ENSP00000388631:p.Arg530His	1					PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	p.R530H	NM_032726.3	NP_116115.1	1	2	3	2.111737	Q9BRC7	PLCD4_HUMAN		11	1928	+		Renal(207;0.0915)	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	1	1	hg19	c.1589G>A	CCDS46516.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730324	0.30684	0.0	2.43E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54279	0.58;0.58;0.58	5.53	1.16	0.20824	5.53	1.16	0.20824	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.519476	0.23340	N	0.049252	T	0.46600	0.1401	M	0.62723	1.935	0.25396	N	0.988486	B	0.12013	0.005	B	0.04013	0.001	T	0.46679	-0.9174	10	0.87932	D	0	.	9.4467	0.38701	0.6826:0.0:0.3174:0.0	.	530	Q9BRC7	PLCD4_HUMAN	H	530;530;530;562	ENSP00000388631:R530H;ENSP00000396942:R530H;ENSP00000396185:R562H	ENSP00000251959:R530H	R	+	2	0	0	PLCD4	219206711	219206711	1.000000	0.71417	0.960000	0.40013	0.395000	0.30598	2.229000	0.42990	0.011000	0.14865	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				57	57		128	125	1		1	1		0	0	34	0		1	9.998501e-01	0	13	0	21	0	57	128
ZNF142	7701	broad.mit.edu	37	2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000449707.1	-	8	4889	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1490					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532																																					Colon(170;867 1942 8995 15834 18053)	ENST00000449707.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(4468-4470)Gct>Act		zinc finger protein 142							95.0	98.0	97.0					2																	219506771		2158	4273	6431	SO:0001583	missense	7701	0	0					g.chr2:219506771C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4468G>A	chr2.hg19:g.219506771C>T	ENSP00000408643:p.Ala1490Thr	1					ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	p.A1490T	NM_001105537.1	NP_001099007.1	1	2	3	2.111737	P52746	ZN142_HUMAN		8	4889	-		Renal(207;0.0474)	Q92510	Missense_Mutation	SNP	ENST00000449707.1	1	1	hg19	c.4468G>A	CCDS42817.1	1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048747	0.75846	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14516	2.5;2.5	5.62	5.62	0.85841	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148988	0.64402	D	0.000010	T	0.18759	0.0450	N	0.04669	-0.19	0.47009	D	0.999286	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.41520	-0.9504	10	0.22109	T	0.4	-17.3075	19.8797	0.96891	0.0:1.0:0.0:0.0	.	1490;1327	P52746;A8MWU9	ZN142_HUMAN;.	T	1490	ENSP00000408643:A1490T;ENSP00000398798:A1490T	ENSP00000398798:A1490T	A	-	1	0	0	ZNF142	219215015	219215015	0.981000	0.34729	1.000000	0.80357	0.924000	0.55760	2.299000	0.43611	2.933000	0.99390	0.645000	0.84053	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_005081			101	98		310	308	1		1	1		0	0	65	0		1	9.999996e-01	0	24	0	44	0	101	310
ZNF142	7701	broad.mit.edu	37	2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000449707.1	-	6	1223	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	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)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	ENST00000449707.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(802-804)Cta>Ata		zinc finger protein 142							34.0	36.0	35.0					2																	219513829		2059	4205	6264	SO:0001583	missense	7701	0	0					g.chr2:219513829G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.802C>A	chr2.hg19:g.219513829G>T	ENSP00000408643:p.Leu268Ile	1		OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2259	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	p.L268I	NM_001105537.1	NP_001099007.1	1	2	3	2.111737	P52746	ZN142_HUMAN		6	1223	-		Renal(207;0.0474)	Q92510	Missense_Mutation	SNP	ENST00000449707.1	1	1	hg19	c.802C>A	CCDS42817.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160812	0.78226	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21031	2.03;2.03	5.06	5.06	0.68205	5.06	5.06	0.68205	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	0.52386	0.1731	M	0.83312	2.635	0.42258	D	0.992001	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.58120	-0.7692	10	0.87932	D	0	-26.1267	18.9909	0.92791	0.0:0.0:1.0:0.0	.	268;105	P52746;A8MWU9	ZN142_HUMAN;.	I	268	ENSP00000408643:L268I;ENSP00000398798:L268I	ENSP00000398798:L268I	L	-	1	2	2	ZNF142	219222073	219222073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.797000	0.62503	2.797000	0.96272	0.563000	0.77884	CTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005081			53	52		198	194	1		1	1		0	0	43	0		1	9.994284e-01	0	12	0	33	0	53	198
BCS1L	617	broad.mit.edu	37	2	219525923	219525923	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	71					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552																																						ENST00000431802.1	1.000000	0.610000	9.700000e-01	7.000000e-01	0.810000	0.827794	0.810000	1.000000																										0				8						c.(211-213)agT>agC		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							127.0	129.0	128.0					2																	219525923		2203	4300	6503	SO:0001819	synonymous_variant	617	0	0					g.chr2:219525923T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.213T>C	chr2.hg19:g.219525923T>C		1					BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S	p.S71S			1	2	3	2.111737	Q9Y276	BCS1_HUMAN		2	912	+		Renal(207;0.0474)	B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	1	1	hg19	c.213T>C	CCDS2419.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	0		2	2	2	0		0	0	159		159	132	1	2.060000	-20.000000	1	0.170000	NM_004328			55	45		811	732	0		1	1		0	0	159	0		1	9.242483e-01	0	6	0	60	0	55	811
BCS1L	617	broad.mit.edu	37	2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	78			S -> G (in GRACILE; dbSNP:rs28937590). {ECO:0000269|PubMed:12215968, ECO:0000269|PubMed:17314340}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532																																						ENST00000431802.1	1.000000	0.570000	9.100000e-01	6.600000e-01	0.760000	0.786404	0.760000	0.750000																										0				8						c.(232-234)aGt>aAt		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							139.0	140.0	140.0					2																	219525943		2203	4300	6503	SO:0001583	missense	617	0	0					g.chr2:219525943G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.233G>A	chr2.hg19:g.219525943G>A	ENSP00000413908:p.Ser78Asn	1					BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N	p.S78N			1	2	3	2.111737	Q9Y276	BCS1_HUMAN		2	932	+		Renal(207;0.0474)	B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	1	1	hg19	c.233G>A	CCDS2419.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.195845	0.94960	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.46	5.46	0.80206	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.85777	2.775	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	D	0.97782	1.0233	10	0.51188	T	0.08	-25.7679	19.3096	0.94182	0.0:0.0:1.0:0.0	.	78	Q9Y276	BCS1_HUMAN	N	78	ENSP00000398957:S78N;ENSP00000395440:S78N;ENSP00000352219:S78N;ENSP00000375957:S78N;ENSP00000375958:S78N;ENSP00000397293:S78N;ENSP00000375959:S78N;ENSP00000406494:S78N;ENSP00000404999:S78N;ENSP00000413908:S78N	ENSP00000352219:S78N	S	+	2	0	0	BCS1L	219234187	219234187	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	2.542000	0.85734	0.655000	0.94253	AGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	0		2	2	2	0		0	0	173		173	158	1	2.060000	-8.842186	1	0.170000	NM_004328			54	47		849	792	1		1	1		0	0	173	0		1	9.592505e-01	0	10	0	73	0	54	849
BCS1L	617	broad.mit.edu	37	2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	169					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527																																						ENST00000431802.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(505-507)Tac>Cac		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							96.0	86.0	89.0					2																	219526526		2203	4300	6503	SO:0001583	missense	617	0	0					g.chr2:219526526T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.505T>C	chr2.hg19:g.219526526T>C	ENSP00000413908:p.Tyr169His	1					BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H	p.Y169H			1	2	3	2.111737	Q9Y276	BCS1_HUMAN		4	1204	+		Renal(207;0.0474)	B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	1	1	hg19	c.505T>C	CCDS2419.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189675	0.57909	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.33	2.96	0.34315	5.33	2.96	0.34315	BCS1, N-terminal (1);	0.115428	0.64402	N	0.000009	D	0.97986	0.9337	M	0.86651	2.83	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.96434	0.9321	10	0.51188	T	0.08	-19.5542	9.5157	0.39104	0.0:0.1425:0.0:0.8575	.	169	Q9Y276	BCS1_HUMAN	H	169;169;49;169;169;169;169;169;169;169	ENSP00000398957:Y169H;ENSP00000395440:Y169H;ENSP00000412729:Y49H;ENSP00000352219:Y169H;ENSP00000375957:Y169H;ENSP00000375958:Y169H;ENSP00000375959:Y169H;ENSP00000406494:Y169H;ENSP00000404999:Y169H;ENSP00000413908:Y169H	ENSP00000352219:Y169H	Y	+	1	0	0	BCS1L	219234770	219234770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	0.478000	0.27488	0.528000	0.53228	TAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.998140	1	0.170000	NM_004328			38	38		170	169	1		1	1		0	0	44	0		1	9.999990e-01	0	20	0	81	0	38	170
BCS1L	617	broad.mit.edu	37	2	219527252	219527252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	247					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627																																						ENST00000431802.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				8						c.(739-741)Ctg>Ttg		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							56.0	52.0	53.0					2																	219527252		2203	4300	6503	SO:0001819	synonymous_variant	617	0	0					g.chr2:219527252C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.739C>T	chr2.hg19:g.219527252C>T		1					BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron	p.L247L			1	2	3	2.111737	Q9Y276	BCS1_HUMAN		6	1438	+		Renal(207;0.0474)	B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	1	1	hg19	c.739C>T	CCDS2419.1	1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833932	0.16820	.	.	ENSG00000074582	ENST00000426649	.	.	.	5.1	3.32	0.38043	5.1	3.32	0.38043	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-17.5927	7.9752	0.30151	0.0:0.691:0.0:0.309	.	.	.	.	I	28	.	.	T	+	2	0	0	BCS1L	219235496	219235496	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	0.985000	0.29578	0.753000	0.32945	-0.266000	0.10368	ACT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_004328			55	54		387	380	1		1	1		0	0	80	0		1	9.999873e-01	0	39	0	78	0	55	387
RNF25	64320	broad.mit.edu	37	2	219528785	219528785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	425					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652																																						ENST00000295704.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1273-1275)ggC>ggA		ring finger protein 25							70.0	87.0	81.0					2																	219528785		2203	4300	6503	SO:0001819	synonymous_variant	64320	0	0					g.chr2:219528785G>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1275C>A	chr2.hg19:g.219528785G>T		1						p.G425G	NM_022453.2	NP_071898.2	1	2	3	2.111737	Q96BH1	RNF25_HUMAN		10	1715	-		Renal(207;0.0474)	A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	1	1	hg19	c.1275C>A	CCDS2420.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_022453			303	299		732	716	1		1	1		0	0	132	0		1	1	0	21	0	70	0	303	732
TTLL4	9654	broad.mit.edu	37	2	219602420	219602420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	7					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			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)		CAGGAACACAGCACTATAGTA	0.587																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				39						c.(19-21)caG>caA		tubulin tyrosine ligase-like family, member 4							56.0	55.0	55.0					2																	219602420		2203	4300	6503	SO:0001819	synonymous_variant	9654	0	0					g.chr2:219602420G>A		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.21G>A	chr2.hg19:g.219602420G>A		1					TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_Silent_p.Q7Q	p.Q7Q	NM_014640.4	NP_055455.3	1	2	3	2.111737	Q14679	TTLL4_HUMAN		3	361	+		Renal(207;0.0915)	A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	1	1	hg19	c.21G>A	CCDS2422.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_014640			45	44		292	287	1		1	1		0	0	76	0		1	8.296654e-01	0	4	0	19	0	45	292
TTLL4	9654	broad.mit.edu	37	2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	100					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			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)		GCAGGCCACAGCAGTTCCTGT	0.562																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(298-300)aGc>aAc		tubulin tyrosine ligase-like family, member 4							92.0	89.0	90.0					2																	219602698		2203	4300	6503	SO:0001583	missense	9654	0	0					g.chr2:219602698G>A		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.299G>A	chr2.hg19:g.219602698G>A	ENSP00000375951:p.Ser100Asn	1					TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	p.S100N	NM_014640.4	NP_055455.3	1	2	3	2.111737	Q14679	TTLL4_HUMAN		3	639	+		Renal(207;0.0915)	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	1	1	hg19	c.299G>A	CCDS2422.1	1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072001	0.20147	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.309004	0.28515	N	0.015069	T	0.16727	0.0402	N	0.24115	0.695	0.23720	N	0.99703	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.021	T	0.11203	-1.0597	10	0.56958	D	0.05	.	8.7699	0.34726	0.1007:0.0:0.8993:0.0	.	100;100	E7EX20;Q14679	.;TTLL4_HUMAN	N	100	ENSP00000411228:S100N;ENSP00000375951:S100N;ENSP00000391342:S100N;ENSP00000396555:S100N;ENSP00000405485:S100N;ENSP00000258398:S100N	ENSP00000258398:S100N	S	+	2	0	0	TTLL4	219310942	219310942	0.006000	0.16342	0.911000	0.35937	0.494000	0.33585	1.061000	0.30542	2.441000	0.82636	0.563000	0.77884	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-7.927045	1	0.170000	NM_014640			178	176		493	480	1		1	1		0	0	124	0		1	9.989568e-01	0	16	0	15	0	178	493
PRKAG3	53632	broad.mit.edu	37	2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T	rs372540696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000529249.1	-	10	1352	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	346					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)			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)	TTGGATAGTGCGGTAGAGGAA	0.597																																						ENST00000529249.1	1.000000	0.240000	4.700000e-01	2.900000e-01	0.360000	0.422783	0.360000	0.350000																										0				20						c.(1036-1038)cGc>cAc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit	Acetylsalicylic acid(DB00945)						107.0	110.0	109.0					2																	219691782		2203	4300	6503	SO:0001583	missense	53632	7	121412	43				g.chr2:219691782C>T	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.1037G>A	chr2.hg19:g.219691782C>T	ENSP00000436068:p.Arg346His	1					PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T	p.R346H			1	2	3	2.111737	Q9UGI9	AAKG3_HUMAN		10	1352	-		Renal(207;0.0474)	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	1	1	hg19	c.1037G>A	CCDS2424.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689197|3.689197	0.68271|0.68271	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.91407	0.04|-2.84;-2.84;-2.84	5.77|5.77	5.77|5.77	0.91146|0.91146	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.102960	.|0.64402	.|D	.|0.000005	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.36672|0.36672	1.1|1.1	0.23798|0.23798	N|N	0.996819|0.996819	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	D|D	0.84430|0.84430	0.0576|0.0576	7|10	0.87932|0.66056	D|D	0|0.02	-12.6988|-12.6988	8.475|8.475	0.33007|0.33007	0.0:0.8359:0.0:0.1641|0.0:0.8359:0.0:0.1641	.|.	.|346	.|Q9UGI9	.|AAKG3_HUMAN	T|H	331|321;162;346	ENSP00000375947:A331T|ENSP00000397133:R321H;ENSP00000444536:R162H;ENSP00000436068:R346H	ENSP00000375947:A331T|ENSP00000233944:R346H	A|R	-|-	1|2	0|0	0|0	PRKAG3|PRKAG3	219400026|219400026	219400026|219400026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.096000|2.096000	0.41738|0.41738	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	0	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-2.246333	0	0.170000				28	27		968	941	0		1			0	0	143	0		1	0	0	0	0	0	0	28	968
PRKAG3	53632	broad.mit.edu	37	2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000529249.1	-	7	1127	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I|PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	271					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)			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)	ACCCCTCCAGGTCTCAATCTT	0.552																																						ENST00000529249.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999703	0.990000	1.000000																										0				20						c.(811-813)aCc>aTc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit	Acetylsalicylic acid(DB00945)						103.0	111.0	108.0					2																	219692564		2203	4300	6503	SO:0001583	missense	53632	0	0					g.chr2:219692564G>A	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.812C>T	chr2.hg19:g.219692564G>A	ENSP00000436068:p.Thr271Ile	1					PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I|PRKAG3_ENST00000392098.3_Intron	p.T271I			1	2	3	2.111737	Q9UGI9	AAKG3_HUMAN		7	1127	-		Renal(207;0.0474)	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	1	1	hg19	c.812C>T	CCDS2424.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187793	0.78789	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91945	-2.94;-2.94;-2.94	4.41	4.41	0.53225	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.72032	D	0.01	-24.4549	16.1833	0.81925	0.0:0.0:1.0:0.0	.	271	Q9UGI9	AAKG3_HUMAN	I	246;87;271	ENSP00000397133:T246I;ENSP00000444536:T87I;ENSP00000436068:T271I	ENSP00000233944:T271I	T	-	2	0	0	PRKAG3	219400808	219400808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.234000	0.95347	2.283000	0.76528	0.655000	0.94253	ACC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				30	29		207	200	1		1			0	0	46	0		1	0	0	0	0	0	0	30	207
WNT6	7475	broad.mit.edu	37	2	219738522	219738522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	351					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697																																						ENST00000233948.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				4						c.(1051-1053)caG>caA		wingless-type MMTV integration site family, member 6							13.0	10.0	11.0					2																	219738522		2130	4176	6306	SO:0001819	synonymous_variant	7475	1	119048	25				g.chr2:219738522G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1053G>A	chr2.hg19:g.219738522G>A		1						p.Q351Q	NM_006522.3	NP_006513.1	1	2	3	2.111737	Q9Y6F9	WNT6_HUMAN		4	1270	+		Renal(207;0.0474)	Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	1	1	hg19	c.1053G>A	CCDS2425.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_006522			16	16		69	67	0		1			0	0	21	0		9.999553e-01	0	0	0	0	0	0	16	69
WNT10A	80326	broad.mit.edu	37	2	219757865	219757865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	ENST00000258411.3	+	4	1759	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	376					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCAGCATGTGCTGCGGCCG	0.701																																						ENST00000258411.3	1.000000	0.740000	1	9.800000e-01	0.990000	0.977643	0.990000	1.000000																										0				12						c.(1126-1128)Tgc>Cgc		wingless-type MMTV integration site family, member 10A							6.0	8.0	7.0					2																	219757865		2027	3991	6018	SO:0001583	missense	80326	0	0					g.chr2:219757865T>C	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.1126T>C	chr2.hg19:g.219757865T>C	ENSP00000258411:p.Cys376Arg	1						p.C376R	NM_025216.2	NP_079492.2	1	2	3	2.111737	Q9GZT5	WN10A_HUMAN		4	1759	+		Renal(207;0.0474)	Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	0	1	hg19	c.1126T>C	CCDS2426.1	1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577249	0.45902	.	.	ENSG00000135925	ENST00000258411	D	0.91686	-2.89	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.111087	0.64402	D	0.000002	D	0.97626	0.9222	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98813	1.0744	10	0.87932	D	0	.	13.8041	0.63220	0.0:0.0:0.0:1.0	.	376	Q9GZT5	WN10A_HUMAN	R	376	ENSP00000258411:C376R	ENSP00000258411:C376R	C	+	1	0	0	WNT10A	219466109	219466109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.907000	0.69908	2.046000	0.60703	0.459000	0.35465	TGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_025216			14	14		128	127	0		1	0		0	0	19	0		9.997954e-01	1.632301e-01	0	1	0	6	0	14	128
CCDC108	255101	broad.mit.edu	37	2	219870946	219870946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000453220.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		GAGGCAGTGTCTTTGGGAAGG	0.602																																						ENST00000341552.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.e31-1		coiled-coil domain containing 108							52.0	58.0	56.0					2																	219870946		2202	4300	6502	SO:0001630	splice_region_variant	255101	0	0					g.chr2:219870946C>A	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.4720-1G>T	chr2.hg19:g.219870946C>A		1					CCDC108_ENST00000441968.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site		NM_194302.2	NP_919278.2	1	2	3	2.111737	Q6ZU64	CC108_HUMAN		31	4803	-		Renal(207;0.0915)	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Splice_Site	SNP	ENST00000341552.5	1	1	hg19		CCDS2430.2	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255038	0.39896	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	.	.	.	5.29	5.29	0.74685	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CCDC108	219579190	219579190	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.724000	0.61972	2.466000	0.83321	0.655000	0.94253	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.232877	1	0.170000	NM_194302	Intron		69	67		357	350	1		1			0	0	86	0		1	0	0	0	0	0	0	69	357
CCDC108	255101	broad.mit.edu	37	2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T	rs201564070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1458						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		GAAGAGCAGGCGGCTGCACTT	0.522																																						ENST00000341552.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4372-4374)cGc>cAc		coiled-coil domain containing 108							97.0	92.0	93.0					2																	219874743		2201	4299	6500	SO:0001583	missense	255101	43	121310	45				g.chr2:219874743C>T	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.4373G>A	chr2.hg19:g.219874743C>T	ENSP00000340776:p.Arg1458His	1					CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H	p.R1458H	NM_194302.2	NP_919278.2	1	2	3	2.111737	Q6ZU64	CC108_HUMAN		27	4456	-		Renal(207;0.0915)	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	1	1	hg19	c.4373G>A	CCDS2430.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.231706	0.95207	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.11169	2.8;2.8;2.8	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.46442	D	0.000293	T	0.21962	0.0529	M	0.72894	2.215	0.80722	D	1	P	0.49961	0.93	P	0.45343	0.477	T	0.00611	-1.1645	10	0.87932	D	0	-29.3898	19.6518	0.95819	0.0:1.0:0.0:0.0	.	1458	Q6ZU64	CC108_HUMAN	H	1458	ENSP00000340776:R1458H;ENSP00000413377:R1458H;ENSP00000409117:R1458H	ENSP00000340776:R1458H	R	-	2	0	0	CCDC108	219582987	219582987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.752000	0.94435	0.650000	0.86243	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.852412	1	0.170000	NM_194302			40	39		178	174	1		1	0		0	0	43	0		1	0	0	0	0	1	0	40	178
CCDC108	255101	broad.mit.edu	37	2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1129						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		AGAGAAGAGGCGCCACAGGTG	0.612																																						ENST00000341552.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(3385-3387)cGc>cAc		coiled-coil domain containing 108							41.0	43.0	42.0					2																	219884315		2203	4300	6503	SO:0001583	missense	255101	2	121412	30				g.chr2:219884315C>T	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.3386G>A	chr2.hg19:g.219884315C>T	ENSP00000340776:p.Arg1129His	1					CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H	p.R1129H	NM_194302.2	NP_919278.2	1	2	3	2.111737	Q6ZU64	CC108_HUMAN		20	3469	-		Renal(207;0.0915)	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	1	1	hg19	c.3386G>A	CCDS2430.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.035950|2.035950	0.35893|0.35893	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.04|5.04	-1.92|-1.92	0.07618|0.07618	5.04|5.04	-1.92|-1.92	0.07618|0.07618	.|.	.|0.958231	.|0.08607	.|N	.|0.920538	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.14661|0.14661	0.345|0.345	0.37377|0.37377	D|D	0.911878|0.911878	.|B	.|0.26147	.|0.143	.|B	.|0.19391	.|0.025	T|T	0.35919|0.35919	-0.9769|-0.9769	5|10	.|0.39692	.|T	.|0.17	-5.0064|-5.0064	11.4139|11.4139	0.49941|0.49941	0.0:0.4375:0.0:0.5625|0.0:0.4375:0.0:0.5625	.|.	.|1129	.|Q6ZU64	.|CC108_HUMAN	T|H	38|1129	.|ENSP00000340776:R1129H;ENSP00000413377:R1129H;ENSP00000409117:R1129H	.|ENSP00000340776:R1129H	A|R	-|-	1|2	0|0	0|0	CCDC108|CCDC108	219592559|219592559	219592559|219592559	0.005000|0.005000	0.15991|0.15991	0.960000|0.960000	0.40013|0.40013	0.982000|0.982000	0.71751|0.71751	-0.237000|-0.237000	0.08990|0.08990	-0.636000|-0.636000	0.05524|0.05524	0.561000|0.561000	0.74099|0.74099	GCC|CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-4.968029	1	0.170000	NM_194302			55	53		161	160	1		1	0		0	0	41	0		1	0	0	1	0	0	0	55	161
CCDC108	255101	broad.mit.edu	37	2	219894360	219894360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219894360A>G	ENST00000341552.5	-	11	1498	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	472						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		GCTGAAGTTGACACAGTAGTG	0.572											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341552.5	1.000000	0.170000	4.700000e-01	2.400000e-01	0.330000	0.393217	0.330000	0.320000																										0				80						c.(1414-1416)gTc>gCc		coiled-coil domain containing 108							98.0	92.0	94.0					2																	219894360		2203	4300	6503	SO:0001583	missense	255101	0	0					g.chr2:219894360A>G	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.1415T>C	chr2.hg19:g.219894360A>G	ENSP00000340776:p.Val472Ala	1		OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A	p.V472A	NM_194302.2	NP_919278.2	1	2	3	2.111737	Q6ZU64	CC108_HUMAN		11	1498	-		Renal(207;0.0915)	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	1	1	hg19	c.1415T>C	CCDS2430.2	0	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412452	0.42817	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09817	3.23;3.23;3.23;2.94;2.95	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.348102	0.20722	N	0.086883	T	0.26376	0.0644	M	0.74881	2.28	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.53035	0.716;0.716	T	0.01757	-1.1280	10	0.66056	D	0.02	-18.9174	15.1942	0.73071	1.0:0.0:0.0:0.0	.	461;472	E9PG25;Q6ZU64	.;CC108_HUMAN	A	472;472;472;461;407;406	ENSP00000340776:V472A;ENSP00000413377:V472A;ENSP00000409117:V472A;ENSP00000386945:V461A;ENSP00000386258:V407A	ENSP00000340776:V472A	V	-	2	0	0	CCDC108	219602604	219602604	0.884000	0.30299	0.296000	0.24974	0.007000	0.05969	6.267000	0.72546	2.172000	0.68678	0.533000	0.62120	GTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	0	0	0		2	2	2	0		0	0	103		103	101	1	2.060000	-11.322520	1	0.170000	NM_194302			13	12		512	494	0		1	0		0	0	103	0		9.994168e-01	0	0	0	0	1	0	13	512
SLC23A3	151295	broad.mit.edu	37	2	220033556	220033556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000409878.3	-	5	525		c.e5-1		SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000455516.2_Splice_Site|SLC23A3_ENST00000295738.7_Splice_Site	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			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)		CCCCGGACACCTGGTAGAAGA	0.577																																						ENST00000409878.3	1.000000	0.210000	8.100000e-01	3.300000e-01	0.510000	0.560664	0.510000	0.460000																										0				11						c.e5-1		solute carrier family 23, member 3							20.0	23.0	22.0					2																	220033556		1961	4137	6098	SO:0001630	splice_region_variant	151295	0	0					g.chr2:220033556C>A	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.493-1G>T	chr2.hg19:g.220033556C>A		1					SLC23A3_ENST00000455516.2_Splice_Site|SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000396775.3_Intron		NM_001144889.1	NP_001138361.1	1	2	3	2.111737	Q6PIS1	S23A3_HUMAN		5	525	-		Renal(207;0.0474)	B7Z512|Q2PYN6|Q96NA6	Splice_Site	SNP	ENST00000409878.3	1	1	hg19		CCDS46518.1	0	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589338	0.46214	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	.	.	.	4.85	3.98	0.46160	4.85	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6874	0.56956	0.0:0.9197:0.0:0.0803	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC23A3	219741800	219741800	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.472000	0.53114	1.277000	0.44412	0.655000	0.94253	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-8.530726	1	0.170000	NM_144712	Intron		6	6		159	155	0		1			0	0	32	0		9.631323e-01	0	0	0	0	0	0	6	159
ABCB6	10058	broad.mit.edu	37	2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	689	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCTGTGACACGGCCGTA	0.542																																						ENST00000265316.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(2065-2067)gTc>gCc		ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)							90.0	81.0	84.0					2																	220075733		2203	4300	6503	SO:0001583	missense	10058	0	0					g.chr2:220075733A>G	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.2066T>C	chr2.hg19:g.220075733A>G	ENSP00000265316:p.Val689Ala	1					ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	p.V689A	NM_005689.2	NP_005680.1	1	2	3	2.111737	Q9NP58	ABCB6_HUMAN		15	2382	-		Renal(207;0.0474)	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	1	1	hg19	c.2066T>C	CCDS2436.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.14|14.14	2.447439|2.447439	0.43429|0.43429	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90261	.|-2.64;-2.64	4.7|4.7	3.54|3.54	0.40534|0.40534	4.7|4.7	3.54|3.54	0.40534|0.40534	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.266329	.|0.37530	.|N	.|0.002060	T|T	0.78220|0.78220	0.4249|0.4249	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.18263	.|0.007;0.021	T|T	0.67818|0.67818	-0.5572|-0.5572	5|10	.|0.15066	.|T	.|0.55	-7.5861|-7.5861	10.1721|10.1721	0.42915|0.42915	0.92:0.0:0.08:0.0|0.92:0.0:0.08:0.0	.|.	.|643;689	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	537|689;643	.|ENSP00000265316:V689A;ENSP00000394333:V643A	.|ENSP00000265316:V689A	S|V	-|-	1|2	0|0	0|0	ABCB6|ABCB6	219783977|219783977	219783977|219783977	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.876000|0.876000	0.50452|0.50452	4.887000|4.887000	0.63156|0.63156	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	TCA|GTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-19.999920	1	0.170000	NM_005689			54	53		332	323	1		1	1		0	0	55	0		1	9.999585e-01	0	30	0	63	0	54	332
ABCB6	10058	broad.mit.edu	37	2	220077786	220077786	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	603	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602																																						ENST00000265316.3	1.000000	0.880000	1	9.900000e-01	0.990000	0.993464	0.990000	1.000000																										0				34						c.(1807-1809)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)							52.0	49.0	50.0					2																	220077786		2203	4300	6503	SO:0001630	splice_region_variant	10058	4	121408	36				g.chr2:220077786G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1806-1C>T	chr2.hg19:g.220077786G>A		1					ABCB6_ENST00000439002.2_Splice_Site_p.R557W	p.R603W	NM_005689.2	NP_005680.1	1	2	3	2.111737	Q9NP58	ABCB6_HUMAN		13	2123	-		Renal(207;0.0474)	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Splice_Site	SNP	ENST00000265316.3	1	0	hg19	c.1807C>T	CCDS2436.1	1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165506	0.38217	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.90844	-2.74;-2.74	4.69	2.81	0.32909	4.69	2.81	0.32909	ABC transporter-like (1);	0.261056	0.36893	N	0.002359	D	0.91287	0.7253	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.989;0.99	P;B	0.47015	0.534;0.43	D	0.90771	0.4672	10	0.87932	D	0	-15.4509	12.1891	0.54257	0.0:0.0:0.3671:0.6329	.	557;603	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	603;557	ENSP00000265316:R603W;ENSP00000394333:R557W	ENSP00000265316:R603W	R	-	1	2	2	ABCB6	219786030	219786030	0.974000	0.33945	0.906000	0.35671	0.279000	0.26890	3.221000	0.51215	0.528000	0.28580	0.655000	0.94253	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-8.478268	1	0.170000	NM_005689	Missense_Mutation		14	14		105	103	1		1	1		0	0	29	0		9.997928e-01	9.812746e-01	0	9	0	44	0	14	105
ATG9A	79065	broad.mit.edu	37	2	220088899	220088899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	ATG9A_ENST00000361242.4_Silent_p.D398D|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Silent_p.D398D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	398					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)				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)		ACACATCTTCGTCATAAATGG	0.567																																						ENST00000409618.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1192-1194)gaC>gaT		autophagy related 9A							160.0	170.0	167.0					2																	220088899		2131	4236	6367	SO:0001819	synonymous_variant	79065	4	121108	41				g.chr2:220088899G>A	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.1194C>T	chr2.hg19:g.220088899G>A		1					ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Silent_p.D398D|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000361242.4_Silent_p.D398D	p.D398D			1	2	3	2.111737	Q7Z3C6	ATG9A_HUMAN		8	1633	-		Renal(207;0.0474)	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	1	1	hg19	c.1194C>T	CCDS42820.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	1	0	1		2	2	2	0		0	0	285		285	283	1	2.060000	-20.000000	1	0.170000	NM_024085			241	238		1066	1047	0		1	1		0	0	285	0		1	1	0	24	0	129	0	241	1066
ANKZF1	55139	broad.mit.edu	37	2	220100035	220100035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100035G>A	ENST00000323348.5	+	10	1865		c.e10+1		ANKZF1_ENST00000410034.3_Splice_Site|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		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)		CCACTGTGCAGTGAGTAAAGG	0.522																																						ENST00000323348.5	1.000000	0.110000	3.500000e-01	1.600000e-01	0.230000	0.306288	0.230000	0.220000																										0				23						c.e10+1		ankyrin repeat and zinc finger domain containing 1							72.0	72.0	72.0					2																	220100035		1930	4131	6061	SO:0001630	splice_region_variant	55139	1	120854	32				g.chr2:220100035G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1691+1G>A	chr2.hg19:g.220100035G>A		1					ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site|GLB1L_ENST00000497855.1_5'Flank		NM_018089.2	NP_060559.2	1	2	3	2.111737	Q9H8Y5	ANKZ1_HUMAN		10	1865	+		Renal(207;0.0474)	Q9NVZ4	Splice_Site	SNP	ENST00000323348.5	0	1	hg19		CCDS42821.1	0	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424284	0.43020	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.245	0.65983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ANKZF1	219808279	219808279	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.630000	0.67805	2.746000	0.94184	0.655000	0.94253	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	0	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-7.919783	1	0.170000	NM_018089	Intron		10	10		568	564	0		1	1		0	0	129	0		9.968125e-01	1.270855e-02	0	2	0	7	0	10	568
ANKZF1	55139	broad.mit.edu	37	2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T	rs370396125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	585						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		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)		TAATGAGTTCCGAAGGTTCAT	0.488																																						ENST00000323348.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1753-1755)Cga>Tga		ankyrin repeat and zinc finger domain containing 1		C	stop/ARG,stop/ARG	0,3860		0,0,1930	102.0	93.0	96.0		1753,1753	5.5	1.0	2		96	1,8281		0,1,4140	no	stop-gained,stop-gained	ANKZF1	NM_001042410.1,NM_018089.2	,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,	585/727,585/727	220100257	1,12141	1930	4141	6071	SO:0001587	stop_gained	55139	1	120884	36				g.chr2:220100257C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1753C>T	chr2.hg19:g.220100257C>T	ENSP00000321617:p.Arg585*	1					ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|GLB1L_ENST00000497855.1_5'Flank	p.R585*	NM_018089.2	NP_060559.2	1	2	3	2.111737	Q9H8Y5	ANKZ1_HUMAN		11	1927	+		Renal(207;0.0474)	Q9NVZ4	Nonsense_Mutation	SNP	ENST00000323348.5	0	1	hg19	c.1753C>T	CCDS42821.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.291588	0.98745	0.0	1.21E-4	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4972	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	585;375;585	.	ENSP00000321617:R585X	R	+	1	2	2	ANKZF1	219808501	219808501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.100000	0.64560	2.840000	0.97914	0.655000	0.94253	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.634284	1	0.170000	NM_018089			90	90		359	347	1		1	1		0	0	88	0		1	9.999998e-01	0	4	0	87	0	90	359
GLB1L	79411	broad.mit.edu	37	2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	532					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458																																						ENST00000295759.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1594-1596)cCt>cAt		galactosidase, beta 1-like							88.0	91.0	90.0					2																	220102328		2203	4300	6503	SO:0001583	missense	79411	0	0					g.chr2:220102328G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1595C>A	chr2.hg19:g.220102328G>T	ENSP00000295759:p.Pro532His	1					GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000497855.1_5'UTR	p.P532H			1	2	3	2.111737	Q6UWU2	GLB1L_HUMAN		16	1908	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	1	1	hg19	c.1595C>A	CCDS2437.1	1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136592	0.09032	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.09	1.17	0.20885	5.09	1.17	0.20885	Galactose-binding domain-like (1);	0.645122	0.15254	N	0.272188	D	0.89146	0.6632	L	0.38175	1.15	0.09310	N	1	B;P	0.50943	0.001;0.94	B;P	0.50192	0.003;0.634	T	0.80580	-0.1319	10	0.44086	T	0.13	-0.3405	1.9772	0.03418	0.2197:0.1138:0.4649:0.2016	.	442;532	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	532;442;532;442	ENSP00000295759:P532H;ENSP00000386354:P442H;ENSP00000375939:P532H;ENSP00000348628:P442H	ENSP00000295759:P532H	P	-	2	0	0	GLB1L	219810572	219810572	0.070000	0.21116	0.018000	0.16275	0.438000	0.31896	0.519000	0.22862	0.735000	0.32537	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_024506			124	120		404	396	1		1	1		0	0	90	0		1	9.999182e-01	0	10	0	37	0	124	404
GLB1L	79411	broad.mit.edu	37	2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000497855.1_5'Flank|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	110					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507																																						ENST00000295759.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(328-330)gCt>gAt		galactosidase, beta 1-like							109.0	111.0	110.0					2																	220107551		2203	4300	6503	SO:0001583	missense	79411	0	0					g.chr2:220107551G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.329C>A	chr2.hg19:g.220107551G>T	ENSP00000295759:p.Ala110Asp	1					GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|GLB1L_ENST00000497855.1_5'Flank	p.A110D			1	2	3	2.111737	Q6UWU2	GLB1L_HUMAN		4	642	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	1	1	hg19	c.329C>A	CCDS2437.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.28|10.28	1.307833|1.307833	0.23821|0.23821	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68|.	6.17|6.17	5.28|5.28	0.74379|0.74379	6.17|6.17	5.28|5.28	0.74379|0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.431035|.	0.27048|.	N|.	0.021181|.	T|T	0.45094|0.45094	0.1325|0.1325	L|L	0.45285|0.45285	1.41|1.41	0.09310|0.09310	N|N	1|1	B;B|.	0.31548|.	0.328;0.004|.	B;B|.	0.27380|.	0.079;0.009|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.30854|.	T|.	0.27|.	0.3606|0.3606	14.0998|14.0998	0.65046|0.65046	0.0:0.0:0.6995:0.3005|0.0:0.0:0.6995:0.3005	.|.	110;110|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	D|I	110|43	ENSP00000295759:A110D;ENSP00000386354:A110D;ENSP00000375939:A110D;ENSP00000348628:A110D;ENSP00000400738:A110D|.	ENSP00000295759:A110D|.	A|L	-|-	2|1	0|0	0|0	GLB1L|GLB1L	219815795|219815795	219815795|219815795	0.338000|0.338000	0.24775|0.24775	0.057000|0.057000	0.19452|0.19452	0.869000|0.869000	0.49853|0.49853	3.374000|3.374000	0.52402|0.52402	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_024506			140	139		417	414	1		1	1		0	0	109	0		1	9.998548e-01	0	8	0	33	0	140	417
TUBA4A	7277	broad.mit.edu	37	2	220115518	220115518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000248437.4	-	4	1076	c.903G>A	c.(901-903)caG>caA	p.Q301Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q286Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	301					'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)			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)	ACTTTACCATCTGGTTGGCAG	0.582																																						ENST00000248437.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(901-903)caG>caA		tubulin, alpha 4a	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)						113.0	104.0	107.0					2																	220115518		2203	4300	6503	SO:0001819	synonymous_variant	7277	1	121412	33				g.chr2:220115518C>T	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.903G>A	chr2.hg19:g.220115518C>T		1					TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q286Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q301Q	NM_006000.2	NP_005991.1	1	2	3	2.111737	P68366	TBA4A_HUMAN		4	1076	-		Renal(207;0.0474)	A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	1	1	hg19	c.903G>A	CCDS2438.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	0	0	1		2	2	2	0		0	0	154		154	151	1	2.060000	-20.000000	1	0.170000	NM_006000			210	203		544	537	1		1	1		0	0	154	0		1	1	0	386	0	393	0	210	544
TUBA4A	7277	broad.mit.edu	37	2	220116407	220116407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000248437.4	-	3	428	c.255G>A	c.(253-255)caG>caA	p.Q85Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q70Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	85					'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)			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)	GGTGGAAGAGCTGTCGGTATG	0.547																																						ENST00000248437.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(253-255)caG>caA		tubulin, alpha 4a	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)						93.0	84.0	87.0					2																	220116407		2203	4300	6503	SO:0001819	synonymous_variant	7277	1	121412	28				g.chr2:220116407C>T	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.255G>A	chr2.hg19:g.220116407C>T		1					TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q70Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q85Q	NM_006000.2	NP_005991.1	1	2	3	2.111737	P68366	TBA4A_HUMAN		3	428	-		Renal(207;0.0474)	A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	1	1	hg19	c.255G>A	CCDS2438.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_006000			55	55		265	257	1		1	1		0	0	50	0		1	1	0	261	0	426	0	55	265
PTPRN	5798	broad.mit.edu	37	2	220162015	220162015	+	Silent	SNP	C	C	T	rs17847406	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162015C>T	ENST00000295718.2	-	14	2268	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	PTPRN_ENST00000423636.2_Silent_p.P586P|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Silent_p.P647P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	676					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGCACCAGGACGGGGTGCTGC	0.662																																						ENST00000295718.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(2026-2028)ccG>ccA		protein tyrosine phosphatase, receptor type, N							53.0	52.0	52.0					2																	220162015		2203	4300	6503	SO:0001819	synonymous_variant	5798	10328	121410	72				g.chr2:220162015C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2028G>A	chr2.hg19:g.220162015C>T		1					PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.P586P|PTPRN_ENST00000409251.3_Silent_p.P647P	p.P676P	NM_002846.3	NP_002837.1	1	2	3	2.111737	Q16849	PTPRN_HUMAN		14	2268	-		Renal(207;0.0474)	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	1	0	hg19	c.2028G>A	CCDS2440.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.375370	0	0.170000				73	71		391	384	1		1	0		0	0	84	0		1	9.999945e-01	0	0	0	95	0	73	391
PTPRN	5798	broad.mit.edu	37	2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	616					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCTCAGGCCCCAGGGCTGCC	0.647																																						ENST00000295718.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1846-1848)Ggg>Agg		protein tyrosine phosphatase, receptor type, N							18.0	19.0	19.0					2																	220162648		2194	4290	6484	SO:0001583	missense	5798	0	0					g.chr2:220162648C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1846G>A	chr2.hg19:g.220162648C>T	ENSP00000295718:p.Gly616Arg	1					PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	p.G616R	NM_002846.3	NP_002837.1	1	2	3	2.111737	Q16849	PTPRN_HUMAN		13	2086	-		Renal(207;0.0474)	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	1	1	hg19	c.1846G>A	CCDS2440.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819837	0.71028	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.76	3.88	0.44766	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.23370	0.0565	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4672	0.55766	0.0:0.9188:0.0:0.0812	.	587;616	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	587;616;587;526	ENSP00000386638:G587R;ENSP00000295718:G616R;ENSP00000444244:G526R	ENSP00000295718:G616R	G	-	1	0	0	PTPRN	219870892	219870892	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.002000	0.63952	1.229000	0.43630	0.655000	0.94253	GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	0		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				32	31		113	112	0		1	0		0	0	19	0		1	9.999971e-01	0	0	0	77	0	32	113
PTPRN	5798	broad.mit.edu	37	2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	595					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGAGCCACAGCCAGAGCCAC	0.657																																						ENST00000295718.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1783-1785)gCt>gAt		protein tyrosine phosphatase, receptor type, N							45.0	44.0	44.0					2																	220162710		2203	4300	6503	SO:0001583	missense	5798	0	0					g.chr2:220162710G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1784C>A	chr2.hg19:g.220162710G>T	ENSP00000295718:p.Ala595Asp	1					PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	p.A595D	NM_002846.3	NP_002837.1	1	2	3	2.111737	Q16849	PTPRN_HUMAN		13	2024	-		Renal(207;0.0474)	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	1	1	hg19	c.1784C>A	CCDS2440.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781120	0.70222	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04015	3.85;3.73;3.73	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.138904	0.49916	D	0.000134	T	0.11110	0.0271	L	0.40543	1.245	0.49130	D	0.999755	D;P	0.67145	0.996;0.885	P;B	0.59115	0.852;0.446	T	0.00926	-1.1512	10	0.66056	D	0.02	.	12.0899	0.53719	0.0836:0.0:0.9164:0.0	.	566;595	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	566;595;566;505	ENSP00000386638:A566D;ENSP00000295718:A595D;ENSP00000444244:A505D	ENSP00000295718:A595D	A	-	2	0	0	PTPRN	219870954	219870954	0.974000	0.33945	0.984000	0.44739	0.887000	0.51463	3.587000	0.53957	2.468000	0.83385	0.655000	0.94253	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				72	71		243	237	0		1	0		0	0	45	0		1	9.999918e-01	0	0	0	61	0	72	243
PTPRN	5798	broad.mit.edu	37	2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A	rs201446365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	267					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGGTGAAGGCCCTGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17526	0.001		0.0	False		,,,				2504	0.0					ENST00000295718.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				65						c.(799-801)cCt>cTt		protein tyrosine phosphatase, receptor type, N							23.0	26.0	25.0					2																	220167053		2203	4300	6503	SO:0001583	missense	5798	1	121404	27				g.chr2:220167053G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.800C>T	chr2.hg19:g.220167053G>A	ENSP00000295718:p.Pro267Leu	1					AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	p.P267L	NM_002846.3	NP_002837.1	1	2	3	2.111737	Q16849	PTPRN_HUMAN		6	1040	-		Renal(207;0.0474)	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	1	1	hg19	c.800C>T	CCDS2440.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.91	1.781115	0.31502	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03386	3.95;3.98;3.98	4.85	3.97	0.46021	4.85	3.97	0.46021	.	0.435749	0.21121	N	0.079803	T	0.03871	0.0109	N	0.24115	0.695	0.39568	D	0.969238	P;B	0.49090	0.919;0.007	P;B	0.47015	0.534;0.004	T	0.53563	-0.8421	10	0.52906	T	0.07	.	6.2459	0.20818	0.2543:0.0:0.7457:0.0	.	267;267	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	267;267;267;177	ENSP00000386638:P267L;ENSP00000295718:P267L;ENSP00000444244:P177L	ENSP00000295718:P267L	P	-	2	0	0	PTPRN	219875297	219875297	0.998000	0.40836	0.997000	0.53966	0.899000	0.52679	2.115000	0.41921	1.266000	0.44231	0.561000	0.74099	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				31	31		149	147	1		1	0		0	0	23	0		1	9.996154e-01	0	0	0	62	0	31	149
DES	1674	broad.mit.edu	37	2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	383	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607																																						ENST00000373960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1147-1149)cGc>cAc		desmin							66.0	63.0	64.0					2																	220286186		2203	4300	6503	SO:0001583	missense	1674	0	0					g.chr2:220286186G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1148G>A	chr2.hg19:g.220286186G>A	ENSP00000363071:p.Arg383His	1						p.R383H	NM_001927.3	NP_001918.3	1	2	3	2.111737	P17661	DESM_HUMAN		6	1234	+		Renal(207;0.0183)	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	1	1	hg19	c.1148G>A	CCDS33383.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.516165	0.96402	.	.	ENSG00000175084	ENST00000373960	D	0.90261	-2.64	5.12	5.12	0.69794	5.12	5.12	0.69794	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95840	0.8646	M	0.86028	2.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.96252	0.9184	10	0.87932	D	0	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	383	P17661	DESM_HUMAN	H	383	ENSP00000363071:R383H	ENSP00000363071:R383H	R	+	2	0	0	DES	219994430	219994430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-4.425205	1	0.170000	NM_001927			95	94		312	307	1		1	1		0	0	72	0		1	9.630554e-01	0	13	0	7	0	95	312
SPEG	10290	broad.mit.edu	37	2	220336654	220336654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1260	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632																																						ENST00000312358.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(3778-3780)agC>agT		SPEG complex locus							64.0	70.0	68.0					2																	220336654		2164	4258	6422	SO:0001819	synonymous_variant	10290	3	121202	32				g.chr2:220336654C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3780C>T	chr2.hg19:g.220336654C>T		1					SPEG_ENST00000485813.1_3'UTR	p.S1260S	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		14	3912	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	1	1	hg19	c.3780C>T	CCDS42824.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_005876			41	40		199	197	1		1	1		0	0	51	0		1	2.108471e-01	0	2	0	3	0	41	199
SPEG	10290	broad.mit.edu	37	2	220338459	220338459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1427	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657																																						ENST00000312358.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(4279-4281)ggG>ggT		SPEG complex locus							80.0	92.0	88.0					2																	220338459		2048	4191	6239	SO:0001819	synonymous_variant	10290	0	0					g.chr2:220338459G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4281G>T	chr2.hg19:g.220338459G>T		1					SPEG_ENST00000485813.1_3'UTR	p.G1427G	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		18	4413	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	1	1	hg19	c.4281G>T	CCDS42824.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_005876			167	163		907	890	1		1	0		0	0	151	0		1	0	0	1	0	0	0	167	907
SPEG	10290	broad.mit.edu	37	2	220347984	220347984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1933					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662																																						ENST00000312358.7	1.000000	0.480000	1	7.000000e-01	0.980000	0.885128	0.980000	1.000000																										0				100						c.(5797-5799)ccC>ccT		SPEG complex locus							10.0	12.0	12.0					2																	220347984		1860	4074	5934	SO:0001819	synonymous_variant	10290	0	0					g.chr2:220347984C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5799C>T	chr2.hg19:g.220347984C>T		1					SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.P1933P	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		30	5931	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	0	1	hg19	c.5799C>T	CCDS42824.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-13.749750	1	0.170000	NM_005876			9	9		114	111	0		1	0		0	0	13	0		9.941519e-01	2.210151e-01	0	1	0	10	0	9	114
SPEG	10290	broad.mit.edu	37	2	220348005	220348005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1940					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662																																						ENST00000312358.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(5818-5820)caG>caA		SPEG complex locus							10.0	13.0	12.0					2																	220348005		1867	4079	5946	SO:0001819	synonymous_variant	10290	0	0					g.chr2:220348005G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5820G>A	chr2.hg19:g.220348005G>A		1					SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.Q1940Q	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		30	5952	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	1	1	hg19	c.5820G>A	CCDS42824.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_005876			31	30		75	73	1		1	1		0	0	12	0		1	8.988018e-01	0	8	0	4	0	31	75
SPEG	10290	broad.mit.edu	37	2	220355360	220355360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220355360C>A	ENST00000312358.7	+	37	9283	c.9151C>A	c.(9151-9153)Ctc>Atc	p.L3051I	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3051	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTGTGGGCTCAGTGACAG	0.617																																						ENST00000312358.7	1.000000	0.180000	5.400000e-01	2.600000e-01	0.370000	0.430351	0.370000	0.350000																										0				100						c.(9151-9153)Ctc>Atc		SPEG complex locus							74.0	82.0	79.0					2																	220355360		2058	4186	6244	SO:0001583	missense	10290	0	0					g.chr2:220355360C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9151C>A	chr2.hg19:g.220355360C>A	ENSP00000311684:p.Leu3051Ile	1					SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.L3051I	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		37	9283	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	0	1	hg19	c.9151C>A	CCDS42824.1	0	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863706	0.51482	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.34	4.34	0.51931	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);	0.000000	0.36665	N	0.002461	T	0.62295	0.2416	N	0.20357	0.565	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.57957	-0.7721	10	0.25751	T	0.34	.	7.4991	0.27507	0.1681:0.7426:0.0:0.0893	.	3051	Q15772	SPEG_HUMAN	I	3051	ENSP00000311684:L3051I	ENSP00000265327:L3051I	L	+	1	0	0	SPEG	220063604	220063604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.417000	0.82017	0.591000	0.81541	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-9.836284	1	0.170000	NM_005876			10	9		356	347	0		1	0		0	0	70	0		9.965230e-01	6.708039e-02	0	1	0	13	0	10	356
SPEG	10290	broad.mit.edu	37	2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607																																						ENST00000312358.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R3196*(1)	upper_aerodigestive_tract(1)	100						c.(9586-9588)Cga>Tga		SPEG complex locus							80.0	87.0	85.0					2																	220356957		2052	4177	6229	SO:0001587	stop_gained	10290	1	121000	25				g.chr2:220356957C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9586C>T	chr2.hg19:g.220356957C>T	ENSP00000311684:p.Arg3196*	1					SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.R3196*	NM_005876.4	NP_005867.3	1	2	3	2.111737	Q15772	SPEG_HUMAN		40	9718	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	ENST00000312358.7	0	1	hg19	c.9586C>T	CCDS42824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.842842|4.842842	0.91197|0.91197	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000412982|ENST00000312358;ENST00000265327	.|.	.|.	.|.	4.44|4.44	3.53|3.53	0.40419|0.40419	4.44|4.44	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.33401	.|N	.|0.004949	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	13.0031|13.0031	0.58687|0.58687	0.1683:0.8317:0.0:0.0|0.1683:0.8317:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|3196	.|.	.|ENSP00000265327:R3196X	A|R	+|+	2|1	0|2	0|2	SPEG|SPEG	220065201|220065201	220065201|220065201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.403000|2.403000	0.44530|0.44530	1.033000|1.033000	0.39918|0.39918	0.467000|0.467000	0.42956|0.42956	GCG|CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-6.180212	1	0.170000	NM_005876			105	100		295	282	0		1	1		0	0	88	0		1	9.119149e-01	0	8	0	6	0	105	295
GMPPA	29926	broad.mit.edu	37	2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T	rs565848757	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	132					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18263	0.0		0.0	False		,,,				2504	0.002					ENST00000358215.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.991762	0.990000	1.000000																										0				20						c.(394-396)Cgc>Tgc		GDP-mannose pyrophosphorylase A							174.0	158.0	164.0					2																	220366724		2203	4300	6503	SO:0001583	missense	29926	44	121412	50				g.chr2:220366724C>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.394C>T	chr2.hg19:g.220366724C>T	ENSP00000350949:p.Arg132Cys	1					GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	p.R132C	NM_205847.2	NP_995319.1	1	2	3	2.111737	Q96IJ6	GMPPA_HUMAN		5	763	+		Renal(207;0.0183)	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	1	1	hg19	c.394C>T	CCDS2441.1	1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197552	0.38806	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94330	-3.4;-3.4;-3.4;-3.4;-0.75;-0.75;-3.4	4.89	0.823	0.18812	4.89	0.823	0.18812	Nucleotidyl transferase (1);	0.667620	0.15013	N	0.285472	D	0.86847	0.6031	L	0.33339	1.005	0.39447	D	0.967333	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.77803	-0.2451	10	0.45353	T	0.12	-18.2	6.5315	0.22330	0.0:0.651:0.1293:0.2197	.	132;132	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	132;132;132;132;132;97;132;62	ENSP00000315925:R132C;ENSP00000363027:R132C;ENSP00000350949:R132C;ENSP00000363016:R132C;ENSP00000392465:R132C;ENSP00000411060:R97C;ENSP00000340760:R132C	ENSP00000315925:R132C	R	+	1	0	0	GMPPA	220074968	220074968	0.985000	0.35326	0.982000	0.44146	0.641000	0.38312	1.580000	0.36547	0.143000	0.18926	-0.291000	0.09656	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1		2	2	2	0		0	0	221		221	218	1	2.060000	-19.999980	1	0.170000	NM_013335			108	106		1149	1127	1		1	1		0	0	221	0		1	1	0	51	0	299	0	108	1149
GMPPA	29926	broad.mit.edu	37	2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	rs138077680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	156			V -> A (in dbSNP:rs13396066).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGGCTGCATCGTTGAGAATCC	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16216	0.0		0.0	False		,,,				2504	0.0					ENST00000358215.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999299	0.990000	1.000000																										0				20						c.(466-468)Gtt>Att		GDP-mannose pyrophosphorylase A		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	79.0	64.0	69.0		466,466	4.5	1.0	2	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GMPPA	NM_013335.3,NM_205847.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	156/421,156/421	220367140	2,13004	2203	4300	6503	SO:0001583	missense	29926	66	121412	47				g.chr2:220367140G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.466G>A	chr2.hg19:g.220367140G>A	ENSP00000350949:p.Val156Ile	1					GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I	p.V156I	NM_205847.2	NP_995319.1	1	2	3	2.111737	Q96IJ6	GMPPA_HUMAN		6	835	+		Renal(207;0.0183)	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	1	0	hg19	c.466G>A	CCDS2441.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.3	4.997176	0.93167	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.46	4.46	0.54185	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.070922	0.56097	D	0.000035	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.62184	0.837;0.899	T	0.81547	-0.0883	10	0.56958	D	0.05	-19.0138	16.7265	0.85423	0.0:0.0:1.0:0.0	.	156;156	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	I	156;156;156;156;156;121;156;86	ENSP00000315925:V156I;ENSP00000363027:V156I;ENSP00000350949:V156I;ENSP00000363016:V156I;ENSP00000392465:V156I;ENSP00000411060:V121I;ENSP00000340760:V156I	ENSP00000315925:V156I	V	+	1	0	0	GMPPA	220075384	220075384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.046000	0.60703	0.561000	0.74099	GTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-5.107075	1	0.170000	NM_013335			22	22		147	147	1		1	1		0	0	32	0		9.999992e-01	1	0	110	0	243	0	22	147
GMPPA	29926	broad.mit.edu	37	2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	322					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637																																						ENST00000358215.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999915	0.990000	1.000000																										0				20						c.(964-966)agC>agA		GDP-mannose pyrophosphorylase A							43.0	36.0	38.0					2																	220370767		2202	4299	6501	SO:0001583	missense	29926	0	0					g.chr2:220370767C>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.966C>A	chr2.hg19:g.220370767C>A	ENSP00000350949:p.Ser322Arg	1					GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	p.S322R	NM_205847.2	NP_995319.1	1	2	3	2.111737	Q96IJ6	GMPPA_HUMAN		11	1335	+		Renal(207;0.0183)	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	1	1	hg19	c.966C>A	CCDS2441.1	1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846470	0.51164	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	3.93	2.06	0.26882	3.93	2.06	0.26882	Hexapeptide transferase, conserved site (1);	0.176776	0.49916	D	0.000126	D	0.94614	0.8264	M	0.85630	2.765	0.58432	D	0.999999	P;B	0.35493	0.505;0.391	B;B	0.41691	0.364;0.119	D	0.92854	0.6300	10	0.72032	D	0.01	5.0339	10.2762	0.43512	0.0:0.8438:0.0:0.1562	.	375;322	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	R	322;375;322;322;322	ENSP00000315925:S322R;ENSP00000363027:S375R;ENSP00000350949:S322R;ENSP00000363016:S322R;ENSP00000340760:S322R	ENSP00000315925:S322R	S	+	3	2	2	GMPPA	220079011	220079011	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.844000	0.48246	0.402000	0.25451	0.552000	0.68991	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_013335			14	13		59	58	1		1	1		0	0	14	0		9.998238e-01	1	0	80	0	155	0	14	59
CHPF	79586	broad.mit.edu	37	2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	634					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652																																						ENST00000243776.6	1.000000	0.740000	1	8.400000e-01	0.950000	0.931730	0.950000	1.000000																										0				21						c.(1900-1902)tCc>tAc		chondroitin polymerizing factor							75.0	77.0	76.0					2																	220404532		2198	4292	6490	SO:0001583	missense	79586	0	0					g.chr2:220404532G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1901C>A	chr2.hg19:g.220404532G>T	ENSP00000243776:p.Ser634Tyr	1					CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	p.S634Y	NM_024536.5	NP_078812	1	2	3	2.111737	Q8IZ52	CHSS2_HUMAN		4	2149	-		Renal(207;0.0183)	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	1	1	hg19	c.1901C>A	CCDS2443.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945595	0.53079	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.291280	0.34200	N	0.004164	T	0.33818	0.0876	L	0.61218	1.895	0.33336	D	0.569161	D	0.56521	0.976	P	0.62649	0.905	T	0.43861	-0.9365	10	0.56958	D	0.05	-17.1883	11.0376	0.47811	0.0:0.0:0.6841:0.3159	.	634	Q8IZ52	CHSS2_HUMAN	Y	634;472	ENSP00000243776:S634Y;ENSP00000445571:S472Y	ENSP00000243776:S634Y	S	-	2	0	0	CHPF	220112776	220112776	0.994000	0.37717	0.973000	0.42090	0.976000	0.68499	2.469000	0.45110	2.563000	0.86464	0.561000	0.74099	TCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	0	0	1		21	35	2	1		1	1	142		142	140	1	2.060000	-3.142702	1	0.170000	NM_024536			68	68		847	839	1		1	1		1	0	142	0		9.999999e-01	1	0	198	0	1528	0	68	847
TMEM198	130612	broad.mit.edu	37	2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	CHPF_ENST00000373891.2_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000535926.1_5'Flank|CHPF_ENST00000243776.6_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I			Q66K66	TM198_HUMAN	transmembrane protein 198	44					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597																																						ENST00000344458.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(130-132)atG>atA		transmembrane protein 198							129.0	114.0	119.0					2																	220409581		2203	4300	6503	SO:0001583	missense	130612	0	0					g.chr2:220409581G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.132G>A	chr2.hg19:g.220409581G>A	ENSP00000343507:p.Met44Ile	1					RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I|CHPF_ENST00000535926.1_5'Flank	p.M44I			1	2	3	2.111737	Q66K66	TM198_HUMAN		3	717	+		Renal(207;0.0376)		Missense_Mutation	SNP	ENST00000344458.2	1	1	hg19	c.132G>A	CCDS33385.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058557	0.55325	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.42686	1.345	0.48762	D	0.999707	P	0.47841	0.901	P	0.46208	0.507	T	0.48387	-0.9040	9	0.11485	T	0.65	-32.5733	16.4838	0.84179	0.0:0.0:1.0:0.0	.	44	Q66K66	TM198_HUMAN	I	44;44;44;130	.	ENSP00000343507:M44I	M	+	3	0	0	TMEM198	220117825	220117825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.573000	0.67417	2.305000	0.77605	0.555000	0.69702	ATG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001005209			81	81		424	418	1		1	1		0	0	74	0		1	9.960952e-01	0	15	0	31	0	81	424
TMEM198	130612	broad.mit.edu	37	2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A	rs374926309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T			Q66K66	TM198_HUMAN	transmembrane protein 198	96	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652																																						ENST00000344458.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(286-288)Gcg>Acg		transmembrane protein 198		G	THR/ALA	0,4406		0,0,2203	135.0	132.0	133.0		286	4.1	0.8	2		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM198	NM_001005209.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	96/361	220412347	1,13005	2203	4300	6503	SO:0001583	missense	130612	7	120062	43				g.chr2:220412347G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.286G>A	chr2.hg19:g.220412347G>A	ENSP00000343507:p.Ala96Thr	1					RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T	p.A96T			1	2	3	2.111737	Q66K66	TM198_HUMAN		4	871	+		Renal(207;0.0376)		Missense_Mutation	SNP	ENST00000344458.2	1	1	hg19	c.286G>A	CCDS33385.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871742	0.91587	0.0	1.16E-4	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.071196	0.56097	D	0.000021	T	0.72447	0.3461	M	0.71581	2.175	0.46279	D	0.998965	D	0.67145	0.996	P	0.56163	0.793	T	0.74003	-0.3804	9	0.37606	T	0.19	-26.0437	16.3706	0.83357	0.0:0.0:1.0:0.0	.	96	Q66K66	TM198_HUMAN	T	96	.	ENSP00000343507:A96T	A	+	1	0	0	TMEM198	220120591	220120591	1.000000	0.71417	0.786000	0.31890	0.668000	0.39293	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	0		2	2	2	0		0	0	163		163	159	1	2.060000	-20.000000	1	0.170000	NM_001005209			215	212		1121	1095	1		1	1		0	0	163	0		1	9.032119e-01	0	10	0	13	0	215	1121
TMEM198	130612	broad.mit.edu	37	2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N			Q66K66	TM198_HUMAN	transmembrane protein 198	115	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701																																						ENST00000344458.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(343-345)aGc>aAc		transmembrane protein 198							54.0	54.0	54.0					2																	220412405		2202	4298	6500	SO:0001583	missense	130612	0	0					g.chr2:220412405G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.344G>A	chr2.hg19:g.220412405G>A	ENSP00000343507:p.Ser115Asn	1					RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N	p.S115N			1	2	3	2.111737	Q66K66	TM198_HUMAN		4	929	+		Renal(207;0.0376)		Missense_Mutation	SNP	ENST00000344458.2	1	1	hg19	c.344G>A	CCDS33385.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743012	0.69418	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.084192	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79475	2.455	0.43777	D	0.996302	D	0.59767	0.986	P	0.59012	0.85	T	0.73487	-0.3967	9	0.22706	T	0.39	-15.4832	16.3706	0.83357	0.0:0.0:1.0:0.0	.	115	Q66K66	TM198_HUMAN	N	115	.	ENSP00000343507:S115N	S	+	2	0	0	TMEM198	220120649	220120649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.253000	0.74438	0.591000	0.81541	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001005209			111	109		567	556	1		1	1		0	0	63	0		1	5.606269e-01	0	7	0	4	0	111	567
OBSL1	23363	broad.mit.edu	37	2	220419272	220419272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000373876.1_Silent_p.G1508G|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1600					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)						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)		CCAGGCCCAGGCCATTGAGTA	0.637																																						ENST00000404537.1	1.000000	0.260000	8.000000e-01	3.800000e-01	0.540000	0.588283	0.540000	0.490000																										0										c.(4798-4800)ggC>ggT		obscurin-like 1							36.0	46.0	42.0					2																	220419272		2129	4223	6352	SO:0001819	synonymous_variant	23363	0	0					g.chr2:220419272G>A	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.4800C>T	chr2.hg19:g.220419272G>A		1					OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.G1508G	p.G1600G	NM_015311.2	NP_056126.1	1	2	3	2.111737	O75147	OBSL1_HUMAN		15	4856	-		Renal(207;0.0376)	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	1	1	hg19	c.4800C>T	CCDS46520.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-11.096510	1	0.170000				9	9		216	213	0		1	1		0	0	38	0		9.941439e-01	2.769970e-02	0	2	0	4	0	9	216
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Silent_p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				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.G1057G(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)		ATACAAACTCGCCCCCGTCCT	0.627																																						ENST00000404537.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G1057G(1)	lung(1)							c.(3169-3171)ggC>ggT		obscurin-like 1							104.0	118.0	113.0					2																	220424002		2191	4275	6466	SO:0001819	synonymous_variant	23363	1	121296	37				g.chr2:220424002G>A	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.3171C>T	chr2.hg19:g.220424002G>A		1					OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000603926.1_Silent_p.G1057G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000373876.1_Silent_p.G1057G	p.G1057G	NM_015311.2	NP_056126.1	1	2	3	2.111737	O75147	OBSL1_HUMAN		9	3227	-		Renal(207;0.0376)	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	1	1	hg19	c.3171C>T	CCDS46520.1	1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939949	0.02322	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	0.0779	0.14410	4.34	0.0779	0.14410	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	.	10.546	0.45060	0.0:0.34:0.4822:0.1779	.	.	.	.	V	51	.	.	A	-	2	0	0	OBSL1	220132246	220132246	0.958000	0.32768	0.997000	0.53966	0.051000	0.14879	0.087000	0.14958	-0.098000	0.12285	-2.717000	0.00132	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000				133	131		685	667	1		1	0		0	0	133	0		1	9.735714e-01	0	1	0	31	0	133	685
OBSL1	23363	broad.mit.edu	37	2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	703					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)						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)		CAGCTGAGTCCTGCACGCCGG	0.597																																						ENST00000404537.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(2107-2109)caG>caT		obscurin-like 1							55.0	58.0	57.0					2																	220431577		2070	4213	6283	SO:0001583	missense	23363	0	0					g.chr2:220431577C>A	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.2109G>T	chr2.hg19:g.220431577C>A	ENSP00000385636:p.Gln703His	1					OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H	p.Q703H	NM_015311.2	NP_056126.1	1	2	3	2.111737	O75147	OBSL1_HUMAN		5	2165	-		Renal(207;0.0376)	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	1	1	hg19	c.2109G>T	CCDS46520.1	1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874794	0.17395	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.23	2.3	0.28687	5.23	2.3	0.28687	.	.	.	.	.	T	0.30634	0.0771	L	0.33485	1.01	0.34611	D	0.717528	B;B;B;B	0.15719	0.014;0.002;0.009;0.014	B;B;B;B	0.24701	0.022;0.007;0.005;0.055	T	0.31251	-0.9950	9	0.44086	T	0.13	.	7.1136	0.25405	0.0:0.6768:0.1574:0.1658	.	704;703;290;703	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	703;703;703;703;290	ENSP00000265318:Q703H;ENSP00000385636:Q703H;ENSP00000362983:Q703H;ENSP00000362980:Q703H;ENSP00000289656:Q290H	ENSP00000265318:Q703H	Q	-	3	2	2	OBSL1	220139821	220139821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.762000	0.26503	0.776000	0.33473	0.655000	0.94253	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.134830	1	0.170000				74	72		344	338	1		1	1		0	0	70	0		1	1	0	17	0	105	0	74	344
STK11IP	114790	broad.mit.edu	37	2	220473436	220473436	+	Nonsense_Mutation	SNP	C	C	T	rs369193971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	ENST00000456909.1	+	15	1825	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGGAGCGACTGGAGCT	0.657																																						ENST00000456909.1	1.000000	0.460000	1	6.500000e-01	0.900000	0.851143	0.900000	1.000000																										0				23						c.(1735-1737)Cga>Tga		serine/threonine kinase 11 interacting protein							30.0	35.0	33.0					2																	220473436		1994	4162	6156	SO:0001587	stop_gained	114790	4	120836	33				g.chr2:220473436C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1735C>T	chr2.hg19:g.220473436C>T	ENSP00000389383:p.Arg579*	1					STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*	p.R579*			1	2	3	2.111737	Q8N1F8	S11IP_HUMAN		15	1825	+		Renal(207;0.0183)	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	0	1	hg19	c.1735C>T		1	.	.	.	.	.	.	.	.	.	.	C	38	6.930152	0.97944	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.21	3.32	0.38043	4.21	3.32	0.38043	.	0.164085	0.36482	N	0.002580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8113	9.2282	0.37421	0.3935:0.6065:0.0:0.0	.	.	.	.	X	579;558;590	.	ENSP00000295641:R590X	R	+	1	2	2	STK11IP	220181680	220181680	0.991000	0.36638	0.935000	0.37517	0.769000	0.43574	2.815000	0.48018	0.961000	0.38030	0.561000	0.74099	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-14.364710	1	0.170000	NM_052902			10	10		139	133	0		1	0		0	0	21	0		9.965408e-01	8.114895e-01	0	0	0	44	0	10	139
STK11IP	114790	broad.mit.edu	37	2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A	rs368637601		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	640					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647																																						ENST00000456909.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				23						c.(1885-1887)cGc>cAc		serine/threonine kinase 11 interacting protein		G	HIS/ARG	0,4126		0,0,2063	34.0	35.0	34.0		1919	5.0	1.0	2		34	1,8379		0,1,4189	no	missense	STK11IP	NM_052902.2	29	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	640/1100	220473895	1,12505	2063	4190	6253	SO:0001583	missense	114790	5	120840	31				g.chr2:220473895G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1886G>A	chr2.hg19:g.220473895G>A	ENSP00000389383:p.Arg629His	1					STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H	p.R629H			1	2	3	2.111737	Q8N1F8	S11IP_HUMAN		16	1976	+		Renal(207;0.0183)	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	1	1	hg19	c.1886G>A		1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439158	0.83885	0.0	1.19E-4	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05996	3.36;3.36	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.486615	0.20714	N	0.087027	T	0.19046	0.0457	L	0.60455	1.87	0.34520	D	0.708063	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.855	T	0.04178	-1.0971	10	0.46703	T	0.11	-12.346	15.3457	0.74334	0.0:0.0:1.0:0.0	.	608;640;640	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	H	629;608;640	ENSP00000389383:R629H;ENSP00000295641:R640H	ENSP00000295641:R640H	R	+	2	0	0	STK11IP	220182139	220182139	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	2.394000	0.44450	2.595000	0.87683	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-14.779350	1	0.170000	NM_052902			17	17		51	51	1		1	1		0	0	11	0		9.999862e-01	9.998414e-01	0	20	0	31	0	17	51
STK11IP	114790	broad.mit.edu	37	2	220479906	220479906	+	Missense_Mutation	SNP	C	C	A	rs577871796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479906C>A	ENST00000456909.1	+	24	3050	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	998					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGCCCTCTCCTCCAGCA	0.652																																						ENST00000456909.1	1.000000	0.450000	1	7.500000e-01	0.990000	0.912451	0.990000	1.000000																										0				23						c.(2959-2961)tCt>tAt		serine/threonine kinase 11 interacting protein							17.0	19.0	19.0					2																	220479906		2187	4291	6478	SO:0001583	missense	114790	0	0					g.chr2:220479906C>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2960C>A	chr2.hg19:g.220479906C>A	ENSP00000389383:p.Ser987Tyr	1					STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y	p.S987Y			1	2	3	2.111737	Q8N1F8	S11IP_HUMAN		24	3050	+		Renal(207;0.0183)	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	0	1	hg19	c.2960C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.315|9.315	1.056601|1.056601	0.19907|0.19907	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000447191|ENST00000456909;ENST00000295641	.|T;T	.|0.05513	.|3.43;3.43	4.63|4.63	0.678|0.678	0.17969|0.17969	4.63|4.63	0.678|0.678	0.17969|0.17969	.|.	.|0.798511	.|0.11322	.|N	.|0.575908	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.17722	.|0.019	T|T	0.43458|0.43458	-0.9390|-0.9390	5|10	.|0.66056	.|D	.|0.02	-0.0309|-0.0309	1.5459|1.5459	0.02565|0.02565	0.1706:0.4752:0.1656:0.1887|0.1706:0.4752:0.1656:0.1887	.|.	.|998	.|Q8N1F8	.|S11IP_HUMAN	I|Y	87|987;998	.|ENSP00000389383:S987Y;ENSP00000295641:S998Y	.|ENSP00000295641:S998Y	L|S	+|+	1|2	0|0	0|0	STK11IP|STK11IP	220188150|220188150	220188150|220188150	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.195000|1.195000	0.32186|0.32186	-0.055000|-0.055000	0.13244|0.13244	-0.291000|-0.291000	0.09656|0.09656	CTC|TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	0	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-10.800800	1	0.170000	NM_052902			5	5		54	54	0		1	1		0	0	22	0		9.403762e-01	9.430127e-01	0	2	0	58	0	5	54
STK11IP	114790	broad.mit.edu	37	2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1020					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652																																						ENST00000456909.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999814	0.990000	1.000000																										0				23						c.(3025-3027)cGt>cAt		serine/threonine kinase 11 interacting protein							15.0	18.0	17.0					2																	220479972		2090	4208	6298	SO:0001583	missense	114790	0	0					g.chr2:220479972G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3026G>A	chr2.hg19:g.220479972G>A	ENSP00000389383:p.Arg1009His	1					STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H	p.R1009H			1	2	3	2.111737	Q8N1F8	S11IP_HUMAN		24	3116	+		Renal(207;0.0183)	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	0	1	hg19	c.3026G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.291|3.291	-0.144925|-0.144925	0.06627|0.06627	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.04917|.	3.54;3.53|.	4.53|4.53	0.362|0.362	0.16113|0.16113	4.53|4.53	0.362|0.362	0.16113|0.16113	.|.	1.300970|.	0.04990|.	N|.	0.467081|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.30854|.	T|.	0.27|.	1.988|1.988	6.9002|6.9002	0.24279|0.24279	0.4374:0.0:0.5626:0.0|0.4374:0.0:0.5626:0.0	.|.	1020|.	Q8N1F8|.	S11IP_HUMAN|.	H|M	1009;1020|109	ENSP00000389383:R1009H;ENSP00000295641:R1020H|.	ENSP00000295641:R1020H|.	R|V	+|+	2|1	0|0	0|0	STK11IP|STK11IP	220188216|220188216	220188216|220188216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.210000|-0.210000	0.09345|0.09345	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CGT|GTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_052902			16	15		81	79	1		1	1		0	0	16	0		9.999478e-01	9.991832e-01	0	21	0	44	0	16	81
SLC4A3	6508	broad.mit.edu	37	2	220496996	220496996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373760.2_Silent_p.L325L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	325					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)			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)		GTTCGTGGAGCTGAACGAGCT	0.667																																						ENST00000358055.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(973-975)Ctg>Ttg		solute carrier family 4 (anion exchanger), member 3							36.0	41.0	40.0					2																	220496996		2203	4300	6503	SO:0001819	synonymous_variant	6508	0	0					g.chr2:220496996C>T		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.973C>T	chr2.hg19:g.220496996C>T		1					SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000317151.3_Silent_p.L325L	p.L325L			1	2	3	2.111737	P48751	B3A3_HUMAN		8	1485	+		Renal(207;0.0183)	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	1	1	hg19	c.973C>T	CCDS2445.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	1		2	2	2	0		0	0	46		46	43	1	2.060000	-20.000000	1	0.170000	NM_005070			53	52		216	211	1		1	1		0	0	46	0		1	8.726677e-01	0	5	0	12	0	53	216
SLC4A3	6508	broad.mit.edu	37	2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	414					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)			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)		CCGGAGGACAGGGCCAGCGTC	0.647																																						ENST00000358055.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				51						c.(1240-1242)aGg>aAg		solute carrier family 4 (anion exchanger), member 3							66.0	58.0	61.0					2																	220497695		2203	4300	6503	SO:0001583	missense	6508	0	0					g.chr2:220497695G>A		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.1241G>A	chr2.hg19:g.220497695G>A	ENSP00000350756:p.Arg414Lys	1					SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K	p.R414K			1	2	3	2.111737	P48751	B3A3_HUMAN		9	1753	+		Renal(207;0.0183)	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	1	1	hg19	c.1241G>A	CCDS2445.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758539	0.89843	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.72	4.72	0.59763	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	L	0.53780	1.695	0.80722	D	1	D;D	0.63880	0.975;0.993	D;D	0.65323	0.934;0.916	T	0.74942	-0.3492	10	0.31617	T	0.26	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	414;441	P48751;P48751-3	B3A3_HUMAN;.	K	414;414;441;441;414;216	ENSP00000350756:R414K;ENSP00000362865:R414K;ENSP00000273063:R441K;ENSP00000362867:R441K;ENSP00000314006:R414K;ENSP00000414722:R216K	ENSP00000273063:R441K	R	+	2	0	0	SLC4A3	220205939	220205939	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.859000	0.99545	2.163000	0.67991	0.643000	0.83706	AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_005070			40	40		230	228	1		1	1		0	0	51	0		1	8.352088e-01	0	5	0	16	0	40	230
SLC4A3	6508	broad.mit.edu	37	2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	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)			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)		TGCAGGCTTATCGTCAGCCAG	0.662																																						ENST00000358055.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3028-3030)aTc>aGc		solute carrier family 4 (anion exchanger), member 3							50.0	57.0	54.0					2																	220504209		2203	4300	6503	SO:0001583	missense	6508	0	0					g.chr2:220504209T>G		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.3029T>G	chr2.hg19:g.220504209T>G	ENSP00000350756:p.Ile1010Ser	1					SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S	p.I1010S			1	2	3	2.111737	P48751	B3A3_HUMAN		20	3541	+		Renal(207;0.0183)	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	1	1	hg19	c.3029T>G	CCDS2445.1	1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703605	0.68501	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.38	4.38	0.52667	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96060	0.9038	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.0:0.0:1.0	.	714;1010;1037	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1010;1010;1037;1037;270;1010	ENSP00000350756:I1010S;ENSP00000362865:I1010S;ENSP00000273063:I1037S;ENSP00000362867:I1037S;ENSP00000314006:I1010S	ENSP00000273063:I1037S	I	+	2	0	0	SLC4A3	220212453	220212453	1.000000	0.71417	0.932000	0.37286	0.580000	0.36256	7.699000	0.84547	1.968000	0.57251	0.440000	0.28878	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	0		2	2	2	0		0	0	87		87	78	1	2.060000	-20.000000	1	0.170000	NM_005070			85	80		480	448	1		1	1		0	0	87	0		1	9.773079e-01	0	7	0	29	0	85	480
EPHA4	2043	broad.mit.edu	37	2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000281821.2	-	15	2689	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	883					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)			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)		GTTGGGGTTGCGGATGAGTTT	0.512																																						ENST00000281821.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2647-2649)cGc>cAc		EPH receptor A4							191.0	187.0	188.0					2																	222294720		2203	4300	6503	SO:0001583	missense	2043	1	121412	36				g.chr2:222294720C>T	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.2648G>A	chr2.hg19:g.222294720C>T	ENSP00000281821:p.Arg883His	1					EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	p.R883H	NM_004438.3	NP_004429.1	1	2	3	2.111737	P54764	EPHA4_HUMAN		15	2689	-		Renal(207;0.0183)	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	1	1	hg19	c.2648G>A	CCDS2447.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994878	0.93167	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.89	5.89	0.94794	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.097095	0.64402	D	0.000001	T	0.76737	0.4029	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76366	-0.2985	10	0.66056	D	0.02	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	883	P54764	EPHA4_HUMAN	H	883;883;883;832	ENSP00000281821:R883H;ENSP00000386276:R883H;ENSP00000386829:R883H;ENSP00000375923:R832H	ENSP00000281821:R883H	R	-	2	0	0	EPHA4	222002964	222002964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.822000	0.97130	0.650000	0.86243	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000				126	125		739	731	1		1	0		0	0	120	0		1	5.838995e-02	0	0	0	3	0	126	739
EPHA4	2043	broad.mit.edu	37	2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000281821.2	-	3	436	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G|EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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)		ACGCTCTTTGTCGTTGTCTGA	0.443																																						ENST00000281821.2	1.000000	0.330000	6.400000e-01	4.100000e-01	0.500000	0.547911	0.500000	0.490000																										0				49						c.(394-396)gAc>gGc		EPH receptor A4							172.0	157.0	162.0					2																	222428879		2203	4300	6503	SO:0001583	missense	2043	0	0					g.chr2:222428879T>C	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.395A>G	chr2.hg19:g.222428879T>C	ENSP00000281821:p.Asp132Gly	1					EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	p.D132G	NM_004438.3	NP_004429.1	1	2	3	2.111737	P54764	EPHA4_HUMAN		3	436	-		Renal(207;0.0183)	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	1	1	hg19	c.395A>G	CCDS2447.1	0	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373050	0.61624	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.17	6.17	0.99709	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.00443	-1.1736	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	132	P54764	EPHA4_HUMAN	G	132;132;132;81;73;132	ENSP00000281821:D132G;ENSP00000386276:D132G;ENSP00000386829:D132G;ENSP00000375923:D81G;ENSP00000410158:D73G;ENSP00000444085:D132G	ENSP00000281821:D132G	D	-	2	0	0	EPHA4	222137123	222137123	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-3.793843	1	0.170000				28	28		695	691	0		1	0		0	0	117	0		1	2.211023e-02	0	0	0	6	0	28	695
FARSB	10056	broad.mit.edu	37	2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	256					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.T256M(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)	GTCAGTTCCCGTGCATTCAAT	0.299																																						ENST00000281828.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T256M(1)	prostate(1)	24						c.(766-768)aCg>aTg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						66.0	73.0	71.0					2																	223496342		2203	4298	6501	SO:0001583	missense	10056	5	121386	38				g.chr2:223496342G>A	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.767C>T	chr2.hg19:g.223496342G>A	ENSP00000281828:p.Thr256Met	1					FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	p.T256M	NM_005687.3	NP_005678.3	1	2	3	2.111737	Q9NSD9	SYFB_HUMAN		8	1030	-		Renal(207;0.0183)	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	1	1	hg19	c.767C>T	CCDS2454.1	1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818072	0.71028	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.32515	1.45;1.45	5.35	5.35	0.76521	5.35	5.35	0.76521	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.046696	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.85097	0.0955	10	0.87932	D	0	-11.8711	17.3077	0.87199	0.0:0.0:1.0:0.0	.	256;256	A8K666;Q9NSD9	.;SYFB_HUMAN	M	256;157	ENSP00000281828:T256M;ENSP00000442950:T157M	ENSP00000281828:T256M	T	-	2	0	0	FARSB	223204586	223204586	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.814000	0.86154	2.502000	0.84385	0.585000	0.79938	ACG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_005687			92	89		316	310	1		1	1		0	0	105	0		1	1	0	53	0	114	0	92	316
ACSL3	2181	broad.mit.edu	37	2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	46					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E46*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299			T	ETV1	prostate																																	ENST00000357430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q36	2q36	2181	T	acyl-CoA synthetase long-chain family member 3				E	E	ETV1		prostate		2	Substitution - Nonsense(2)	p.E46*(2)	lung(2)	22						c.(136-138)Gag>Aag		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						78.0	84.0	82.0					2																	223773626		2202	4298	6500	SO:0001583	missense	2181	0	0					g.chr2:223773626G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.136G>A	chr2.hg19:g.223773626G>A	ENSP00000350012:p.Glu46Lys	1					ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	p.E46K	NM_004457.3	NP_004448.2	1	2	3	2.111737	O95573	ACSL3_HUMAN		4	667	+		Renal(207;0.0183)	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	1	1	hg19	c.136G>A	CCDS2455.1	1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611047	0.46631	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.319425	0.34362	N	0.004030	T	0.17365	0.0417	N	0.05078	-0.115	0.41100	D	0.985667	B	0.24483	0.104	B	0.15870	0.014	T	0.09058	-1.0692	10	0.19590	T	0.45	-18.1443	18.9699	0.92711	0.0:0.0:1.0:0.0	.	46	O95573	ACSL3_HUMAN	K	46	ENSP00000350012:E46K;ENSP00000375918:E46K	ENSP00000350012:E46K	E	+	1	0	0	ACSL3	223481870	223481870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.483000	0.60264	2.703000	0.92315	0.655000	0.94253	GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.322515	1	0.170000	NM_004457			95	94		495	487	1		1	1		0	0	114	0		1	1	0	27	0	122	0	95	495
ACSL3	2181	broad.mit.edu	37	2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A	rs376738660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	232					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R232Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483			T	ETV1	prostate																																	ENST00000357430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q36	2q36	2181	T	acyl-CoA synthetase long-chain family member 3				E	E	ETV1		prostate		2	Substitution - Missense(2)	p.R232Q(2)	endometrium(2)	22						c.(694-696)cGg>cAg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	115.0	98.0	104.0		695,695	4.8	1.0	2		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACSL3	NM_004457.3,NM_203372.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	232/721,232/721	223783810	1,13005	2203	4300	6503	SO:0001583	missense	2181	3	121412	36				g.chr2:223783810G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.695G>A	chr2.hg19:g.223783810G>A	ENSP00000350012:p.Arg232Gln	1					ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q|AC097461.4_ENST00000446709.1_RNA	p.R232Q	NM_004457.3	NP_004448.2	1	2	3	2.111737	O95573	ACSL3_HUMAN		7	1226	+		Renal(207;0.0183)	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	1	1	hg19	c.695G>A	CCDS2455.1	1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196268	0.58126	0.0	1.16E-4	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41400	2.81;2.81;1.0	5.65	4.77	0.60923	5.65	4.77	0.60923	AMP-dependent synthetase/ligase (1);	0.118921	0.64402	D	0.000015	T	0.25457	0.0619	N	0.08118	0	0.48511	D	0.999661	B	0.23316	0.083	B	0.19148	0.024	T	0.04781	-1.0927	10	0.46703	T	0.11	-10.7174	14.5474	0.68041	0.0702:0.0:0.9298:0.0	.	232	O95573	ACSL3_HUMAN	Q	232;232;80	ENSP00000350012:R232Q;ENSP00000375918:R232Q;ENSP00000441643:R80Q	ENSP00000350012:R232Q	R	+	2	0	0	ACSL3	223492054	223492054	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.937000	0.70162	1.402000	0.46780	-0.136000	0.14681	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-4.033103	1	0.170000	NM_004457			67	67		219	218	0		1	1		0	0	43	0		1	1	0	64	0	132	0	67	219
ACSL3	2181	broad.mit.edu	37	2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	310					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368			T	ETV1	prostate																																	ENST00000357430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2q36	2q36	2181	T	acyl-CoA synthetase long-chain family member 3				E	E	ETV1		prostate		0				22						c.(928-930)Ggg>Tgg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						154.0	151.0	152.0					2																	223786120		2203	4300	6503	SO:0001583	missense	2181	0	0					g.chr2:223786120G>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.928G>T	chr2.hg19:g.223786120G>T	ENSP00000350012:p.Gly310Trp	1					ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W|AC097461.4_ENST00000446709.1_RNA	p.G310W	NM_004457.3	NP_004448.2	1	2	3	2.111737	O95573	ACSL3_HUMAN		8	1459	+		Renal(207;0.0183)	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	1	1	hg19	c.928G>T	CCDS2455.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792366	0.90453	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.43688	2.84;2.84;0.94	5.11	5.11	0.69529	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78349	-0.2238	10	0.87932	D	0	-13.1041	18.5621	0.91104	0.0:0.0:1.0:0.0	.	310	O95573	ACSL3_HUMAN	W	310;310;80	ENSP00000350012:G310W;ENSP00000375918:G310W;ENSP00000404182:G80W	ENSP00000350012:G310W	G	+	1	0	0	ACSL3	223494364	223494364	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	9.869000	0.99810	2.374000	0.81015	0.591000	0.81541	GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	0	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-4.560555	1	0.170000	NM_004457			172	169		564	554	1		1	1		0	0	155	0		1	1	0	98	0	161	0	172	564
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	163						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672																																						ENST00000281830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(487-489)Gcg>Acg		potassium voltage-gated channel, Isk-related family, member 4							46.0	46.0	46.0					2																	223917882		2203	4300	6503	SO:0001583	missense	23704	1	121406	20				g.chr2:223917882G>A	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.487G>A	chr2.hg19:g.223917882G>A	ENSP00000281830:p.Ala163Thr	1					KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T	p.A163T			1	2	3	2.111737	Q8WWG9	KCNE4_HUMAN		2	818	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	1	1	hg19	c.487G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592390	0.66219	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.27349	0.0671	N	0.14661	0.345	0.38093	D	0.937028	P	0.48998	0.918	B	0.35510	0.204	T	0.21724	-1.0237	9	0.48119	T	0.1	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	T	112	.	ENSP00000281830:A112T	A	+	1	0	0	KCNE4	223626126	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_080671			108	108		268	265	1		1	0		0	0	54	0		1	9.999957e-01	0	0	0	48	0	108	268
SCG2	7857	broad.mit.edu	37	2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A	rs377214328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		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)			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)		ATCCTCTCACGTTTCTGGTTG	0.423																																						ENST00000305409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(646-648)Cgt>Tgt		secretogranin II		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	214.0	193.0	200.0		646	4.9	1.0	2		200	0,8600	1.2+/-3.3	0,0,4300	no	missense	SCG2	NM_003469.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	216/618	224463355	1,13005	2203	4300	6503	SO:0001583	missense	7857	3	121412	42				g.chr2:224463355G>A	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.646C>T	chr2.hg19:g.224463355G>A	ENSP00000304133:p.Arg216Cys	1						p.R216C	NM_003469.4	NP_003460.2	1	2	3	2.111737	O00255	MEN1_HUMAN		2	878	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	1	1	hg19	c.646C>T	CCDS2457.1	1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190095	0.21954	2.27E-4	0.0	ENSG00000171951	ENST00000305409	T	0.02369	4.32	5.74	4.86	0.63082	5.74	4.86	0.63082	.	0.176089	0.45361	D	0.000371	T	0.12902	0.0313	M	0.66939	2.045	0.51767	D	0.999934	D	0.89917	1.0	D	0.76575	0.988	T	0.00280	-1.1852	10	0.87932	D	0	.	13.072	0.59068	0.0:0.0:0.5598:0.4402	.	216	P13521	SCG2_HUMAN	C	216	ENSP00000304133:R216C	ENSP00000304133:R216C	R	-	1	0	0	SCG2	224171599	224171599	0.994000	0.37717	0.998000	0.56505	0.105000	0.19272	2.047000	0.41269	1.406000	0.46857	0.650000	0.86243	CGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	1	0	0		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_003469			153	146		766	748	1		1	0		0	0	143	0		1	1	0	1	0	222	0	153	766
SCG2	7857	broad.mit.edu	37	2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		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)			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)		GGAAGACAGATTCCAATGTAG	0.423																																						ENST00000305409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(595-597)gaA>gaT		secretogranin II							189.0	172.0	178.0					2																	224463404		2203	4300	6503	SO:0001583	missense	7857	0	0					g.chr2:224463404T>A	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.597A>T	chr2.hg19:g.224463404T>A	ENSP00000304133:p.Glu199Asp	1						p.E199D	NM_003469.4	NP_003460.2	1	2	3	2.111737	O00255	MEN1_HUMAN		2	829	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	1	1	hg19	c.597A>T	CCDS2457.1	1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201959	0.58234	.	.	ENSG00000171951	ENST00000305409	T	0.01745	4.66	5.65	-0.275	0.12906	5.65	-0.275	0.12906	.	0.199090	0.45361	D	0.000371	T	0.06142	0.0159	L	0.60455	1.87	0.36118	D	0.845319	D	0.71674	0.998	D	0.67725	0.953	T	0.11991	-1.0565	10	0.62326	D	0.03	.	12.1782	0.54198	0.0:0.5511:0.0:0.4489	.	199	P13521	SCG2_HUMAN	D	199	ENSP00000304133:E199D	ENSP00000304133:E199D	E	-	3	2	2	SCG2	224171648	224171648	0.216000	0.23585	0.999000	0.59377	0.990000	0.78478	-0.391000	0.07323	0.146000	0.19002	0.477000	0.44152	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	1	0	0		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_003469			146	145		690	682	1		1	0		0	0	122	0		1	1	0	1	0	149	0	146	690
SERPINE2	5270	broad.mit.edu	37	2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000258405.4	-	4	756	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y|SERPINE2_ENST00000409840.3_Missense_Mutation_p.D172Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	172					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488																																						ENST00000258405.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(514-516)Gat>Tat		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							75.0	64.0	68.0					2																	224856691		2203	4300	6503	SO:0001583	missense	5270	0	0					g.chr2:224856691C>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.514G>T	chr2.hg19:g.224856691C>A	ENSP00000258405:p.Asp172Tyr	1					SERPINE2_ENST00000409840.3_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y	p.D172Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	1	2	3	2.111737	P07093	GDN_HUMAN		4	756	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	1	1	hg19	c.514G>T	CCDS2460.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498938	0.64298	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;T;T;T;T	0.76060	1.82;-0.99;1.82;1.82;1.82	5.8	3.03	0.35002	5.8	3.03	0.35002	Serpin domain (3);	0.255713	0.44902	D	0.000417	D	0.86965	0.6060	M	0.92833	3.35	0.58432	D	0.999991	D;D	0.60160	0.987;0.987	D;P	0.66084	0.941;0.904	D	0.86978	0.2102	10	0.87932	D	0	.	10.199	0.43071	0.0:0.7855:0.0:0.2145	.	184;172	B4DIF2;P07093	.;GDN_HUMAN	Y	172;172;172;184;172	ENSP00000386412:D172Y;ENSP00000258405:D172Y;ENSP00000386969:D172Y;ENSP00000415786:D184Y;ENSP00000408452:D172Y	ENSP00000258405:D172Y	D	-	1	0	0	SERPINE2	224564935	224564935	0.993000	0.37304	0.012000	0.15200	0.982000	0.71751	3.012000	0.49575	0.364000	0.24374	0.650000	0.86243	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_006216			36	36		139	138	1		1	1		0	0	30	0		1	1	0	51	0	158	0	36	139
SERPINE2	5270	broad.mit.edu	37	2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000258405.4	-	2	289	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H|SERPINE2_ENST00000409840.3_Missense_Mutation_p.P16H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	16					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483																																						ENST00000258405.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(46-48)cCt>cAt		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							103.0	114.0	110.0					2																	224866571		2203	4300	6503	SO:0001583	missense	5270	0	0					g.chr2:224866571G>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.47C>A	chr2.hg19:g.224866571G>T	ENSP00000258405:p.Pro16His	1					SERPINE2_ENST00000409840.3_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H	p.P16H	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	1	2	3	2.111737	P07093	GDN_HUMAN		2	289	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	1	1	hg19	c.47C>A	CCDS2460.1	1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982535	0.18889	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84730	-1.88;-0.89;-1.88;-1.89;-1.48;-1.61	5.17	4.28	0.50868	5.17	4.28	0.50868	Serpin domain (1);	0.803013	0.11963	N	0.512566	T	0.68997	0.3062	N	0.08118	0	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.33521	0.165;0.165	T	0.55515	-0.8129	10	0.15066	T	0.55	.	10.7667	0.46297	0.0706:0.0:0.7983:0.1311	.	28;16	B4DIF2;P07093	.;GDN_HUMAN	H	16;16;16;28;16;16;16	ENSP00000386412:P16H;ENSP00000258405:P16H;ENSP00000386969:P16H;ENSP00000415786:P28H;ENSP00000408452:P16H;ENSP00000399655:P16H	ENSP00000258405:P16H	P	-	2	0	0	SERPINE2	224574815	224574815	0.995000	0.38212	0.228000	0.23943	0.098000	0.18820	3.601000	0.54059	1.269000	0.44280	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_006216			80	78		474	463	1		1	1		0	0	83	0		1	9.999989e-01	0	29	0	88	0	80	474
FAM124B	79843	broad.mit.edu	37	2	225266170	225266170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	ENST00000409685.3	-	1	581	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_ENST00000389874.3_Missense_Mutation_p.L106M|FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	106										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TAGGGACACAGCCTTCCCCGA	0.597																																						ENST00000409685.3	1.000000	0.520000	1	6.900000e-01	0.900000	0.864460	0.900000	1.000000																										0				16						c.(316-318)Ctg>Atg		family with sequence similarity 124B							60.0	56.0	58.0					2																	225266170		2203	4300	6503	SO:0001583	missense	79843	0	0					g.chr2:225266170G>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.316C>A	chr2.hg19:g.225266170G>T	ENSP00000386895:p.Leu106Met	1					FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000389874.3_Missense_Mutation_p.L106M	p.L106M	NM_001122779.1	NP_001116251.1	1	2	3	2.111737	Q9H5Z6	F124B_HUMAN		1	581	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	1	1	hg19	c.316C>A	CCDS46527.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601680	0.28534	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.69	0.361	0.16107	5.69	0.361	0.16107	.	1.078210	0.07017	N	0.826143	T	0.39253	0.1071	L	0.36672	1.1	0.09310	N	1	P;B	0.47253	0.892;0.429	P;B	0.50537	0.643;0.323	T	0.31194	-0.9952	10	0.29301	T	0.29	-2.5578	5.3943	0.16261	0.3452:0.0:0.4768:0.1779	.	106;106	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	M	106	ENSP00000374524:L106M;ENSP00000386895:L106M;ENSP00000243806:L106M	ENSP00000243806:L106M	L	-	1	2	2	FAM124B	224974414	224974414	0.787000	0.28750	0.004000	0.12327	0.552000	0.35366	1.063000	0.30567	0.325000	0.23359	0.655000	0.94253	CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	1	0	1		2	2	2	1		1	0	38		38	36	1	2.060000	-19.313970	1	0.170000	NM_024785			15	15		205	201	0		1	0		1	0	38	0		9.998724e-01	2.954551e-02	0	0	0	4	0	15	205
CUL3	8452	broad.mit.edu	37	2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	558					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358																																						ENST00000264414.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1672-1674)gAt>gGt		cullin 3							148.0	140.0	143.0					2																	225362504		2203	4300	6503	SO:0001583	missense	8452	0	0					g.chr2:225362504T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1673A>G	chr2.hg19:g.225362504T>C	ENSP00000264414:p.Asp558Gly	1					CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000409777.1_Missense_Mutation_p.D534G	p.D558G	NM_003590.4	NP_003581.1	1	2	3	2.111737	Q13618	CUL3_HUMAN		12	2011	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	1	1	hg19	c.1673A>G	CCDS2462.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.371427	0.95923	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.16	6.16	0.99307	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;D	0.68353	0.888;0.932;0.888;0.957	D	0.91128	0.4935	10	0.51188	T	0.08	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	492;536;534;558	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	G	558;492;534;534	ENSP00000264414:D558G;ENSP00000343601:D492G;ENSP00000387200:D534G;ENSP00000386525:D534G	ENSP00000264414:D558G	D	-	2	0	0	CUL3	225070748	225070748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.023000	0.88764	2.367000	0.80283	0.528000	0.53228	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2	0	0	1		17	16	2	1		1	1	79		79	78	1	2.060000	-20.000000	1	0.170000				85	81		322	316	1		1	1		1	0	79	0		1	1	0	90	0	258	0	85	322
DOCK10	55619	broad.mit.edu	37	2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000258390.7	-	53	6195	c.6128T>G	c.(6127-6129)cTt>cGt	p.L2043R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L2037R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2043	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)			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)		AAGCTGATTAAGCTCAGAAAC	0.458																																						ENST00000258390.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(6127-6129)cTt>cGt		dedicator of cytokinesis 10							132.0	127.0	128.0					2																	225637950		2125	4252	6377	SO:0001583	missense	55619	0	0					g.chr2:225637950A>C	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.6128T>G	chr2.hg19:g.225637950A>C	ENSP00000258390:p.Leu2043Arg	1					DOCK10_ENST00000409592.3_Missense_Mutation_p.L2037R	p.L2043R	NM_014689.2	NP_055504.2	1	2	3	2.111737	Q96BY6	DOC10_HUMAN		53	6195	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	1	1	hg19	c.6128T>G	CCDS46528.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722240	0.89298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.39592	1.07;1.07	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.80625	-0.1299	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	2043;2037;705	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	R	2037;2043;550	ENSP00000386694:L2037R;ENSP00000258390:L2043R	ENSP00000258390:L2043R	L	-	2	0	0	DOCK10	225346194	225346194	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	8.962000	0.93254	2.145000	0.66743	0.533000	0.62120	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				52	51		174	173	1		1	0		0	0	39	0		1	9.999650e-01	0	0	0	55	0	52	174
DOCK10	55619	broad.mit.edu	37	2	225639794	225639794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000258390.7	-	52	5908	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK10_ENST00000409592.3_Silent_p.I1941I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1947	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)			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)		AGGTCACCTGGATGTAGGCAT	0.488																																						ENST00000258390.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(5839-5841)atC>atT		dedicator of cytokinesis 10							85.0	85.0	85.0					2																	225639794		1975	4172	6147	SO:0001819	synonymous_variant	55619	0	0					g.chr2:225639794G>A	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.5841C>T	chr2.hg19:g.225639794G>A		1					DOCK10_ENST00000409592.3_Silent_p.I1941I	p.I1947I	NM_014689.2	NP_055504.2	1	2	3	2.111737	Q96BY6	DOC10_HUMAN		52	5908	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	1	1	hg19	c.5841C>T	CCDS46528.1	1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278103	0.23307	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	4.59	0.56863	5.48	4.59	0.56863	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	.	11.8314	0.52297	0.148:0.0:0.852:0.0	.	.	.	.	S	97	.	.	P	-	1	0	0	DOCK10	225348038	225348038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	1.413000	0.46997	0.563000	0.77884	CCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				46	46		151	147	1		1	0		0	0	39	0		1	9.999870e-01	0	0	0	60	0	46	151
DOCK10	55619	broad.mit.edu	37	2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000258390.7	-	50	5681	c.5614C>T	c.(5614-5616)Cgg>Tgg	p.R1872W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1866W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1872	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)			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)		CCAAACAGCCGCTTCTCCGAA	0.433																																						ENST00000258390.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(5614-5616)Cgg>Tgg		dedicator of cytokinesis 10							131.0	127.0	128.0					2																	225651780		1890	4117	6007	SO:0001583	missense	55619	0	0					g.chr2:225651780G>A	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.5614C>T	chr2.hg19:g.225651780G>A	ENSP00000258390:p.Arg1872Trp	1					DOCK10_ENST00000409592.3_Missense_Mutation_p.R1866W	p.R1872W	NM_014689.2	NP_055504.2	1	2	3	2.111737	Q96BY6	DOC10_HUMAN		50	5681	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	1	1	hg19	c.5614C>T	CCDS46528.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045660|4.045660	0.75846|0.75846	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.33865	.|1.39;1.39	5.99|5.99	4.15|4.15	0.48705|0.48705	5.99|5.99	4.15|4.15	0.48705|0.48705	.|.	.|0.111909	.|0.56097	.|D	.|0.000022	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.93328|0.93328	3.405|3.405	0.47737|0.47737	D|D	0.999502|0.999502	.|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	T|T	0.77456|0.77456	-0.2581|-0.2581	5|10	.|0.87932	.|D	.|0	.|.	14.1883|14.1883	0.65620|0.65620	0.0:0.0:0.6072:0.3928|0.0:0.0:0.6072:0.3928	.|.	.|1872;693;1866;534	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	V|W	19|1866;1872;377	.|ENSP00000386694:R1866W;ENSP00000258390:R1872W	.|ENSP00000258390:R1872W	A|R	-|-	2|1	0|2	0|2	DOCK10|DOCK10	225360024|225360024	225360024|225360024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.115000|3.115000	0.50391|0.50391	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	GCG|CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000				154	152		431	424	1		1	0		0	0	109	0		1	9.999979e-01	0	0	0	55	0	154	431
IRS1	3667	broad.mit.edu	37	2	227660982	227660982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	825					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)			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)		CTGGGCTCCAGCCTAGCCCCG	0.612																																						ENST00000305123.5	1.000000	0.680000	1	7.800000e-01	0.910000	0.901411	0.910000	1.000000																										0				69						c.(2473-2475)Ctg>Ttg		insulin receptor substrate 1							41.0	50.0	47.0					2																	227660982		2203	4300	6503	SO:0001819	synonymous_variant	3667	0	0					g.chr2:227660982G>A		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.2473C>T	chr2.hg19:g.227660982G>A		1					IRS1_ENST00000498335.1_5'Flank	p.L825L	NM_005544.2	NP_005535.1	1	2	3	2.111737	P35568	IRS1_HUMAN		1	3493	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Silent	SNP	ENST00000305123.5	1	1	hg19	c.2473C>T	CCDS2463.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-10.932950	1	0.170000	NM_005544			49	46		641	633	0		1	1		0	0	93	0		1	9.855523e-01	0	7	0	81	0	49	641
RHBDD1	84236	broad.mit.edu	37	2	227771551	227771551	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000341329.3	+	4	851	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000409053.1_Silent_p.L37L|RHBDD1_ENST00000392062.2_Silent_p.L203L	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	203					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)			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)		TTGTTGGACTAATGTACACTC	0.448																																						ENST00000341329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(607-609)ctA>ctG		rhomboid domain containing 1							146.0	150.0	149.0					2																	227771551		2203	4300	6503	SO:0001819	synonymous_variant	84236	0	0					g.chr2:227771551A>G	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.609A>G	chr2.hg19:g.227771551A>G		1					RHBDD1_ENST00000392062.2_Silent_p.L203L|RHBDD1_ENST00000409053.1_Silent_p.L37L	p.L203L	NM_032276.3	NP_115652.2	1	2	3	2.111737	Q8TEB9	RHBL4_HUMAN		4	851	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	1	1	hg19	c.609A>G	CCDS2464.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000				146	142		395	389	1		1	1		0	0	104	0		1	1	0	46	0	66	0	146	395
COL4A4	1286	broad.mit.edu	37	2	227945157	227945157	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						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)			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)		AATTCTACATACTGGAGGTCC	0.448																																						ENST00000396625.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				98						c.e24+1		collagen, type IV, alpha 4							107.0	109.0	108.0					2																	227945157		1856	4105	5961	SO:0001630	splice_region_variant	1286	0	0					g.chr2:227945157A>G		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.1803+1T>C	chr2.hg19:g.227945157A>G		1					COL4A4_ENST00000329662.7_Splice_Site		NM_000092.4	NP_000083.3	1	2	3	2.111737	P53420	CO4A4_HUMAN		24	2011	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	ENST00000396625.3	1	1	hg19		CCDS42828.1	1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242599	0.22796	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8654	0.35282	0.9169:0.0:0.0831:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	COL4A4	227653401	227653401	1.000000	0.71417	0.960000	0.40013	0.030000	0.12068	5.234000	0.65343	2.269000	0.75478	0.533000	0.62120	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_000092	Intron		97	96		521	516	1		1	1		0	0	123	0		1	1.207526e-01	0	4	0	0	0	97	521
COL4A4	1286	broad.mit.edu	37	2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	380	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)			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)		TCCCCTGTTTCTCCATAGCGG	0.527																																						ENST00000396625.3	1.000000	0.570000	1	7.200000e-01	0.890000	0.872033	0.890000	1.000000																										0				98						c.(1138-1140)Gaa>Taa		collagen, type IV, alpha 4							47.0	48.0	48.0					2																	227963476		1882	4107	5989	SO:0001587	stop_gained	1286	0	0					g.chr2:227963476C>A		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.1138G>T	chr2.hg19:g.227963476C>A	ENSP00000379866:p.Glu380*	1					COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	p.E380*	NM_000092.4	NP_000083.3	1	2	3	2.111737	P53420	CO4A4_HUMAN		19	1345	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	0	1	hg19	c.1138G>T	CCDS42828.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.188080	0.98121	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000328553:E380X	E	-	1	0	0	COL4A4	227671720	227671720	1.000000	0.71417	0.988000	0.46212	0.461000	0.32589	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_000092			23	23		313	307	0		1	0		0	0	71	0		9.999993e-01	6.589124e-01	0	0	0	32	0	23	313
COL4A4	1286	broad.mit.edu	37	2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	341	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)			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)		TACCTTTGGGCCAATTAATCC	0.328																																						ENST00000396625.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998917	0.990000	1.000000																										0				98						c.(1021-1023)gGc>gTc		collagen, type IV, alpha 4							47.0	41.0	43.0					2																	227966227		1790	4068	5858	SO:0001583	missense	1286	0	0					g.chr2:227966227C>A		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.1022G>T	chr2.hg19:g.227966227C>A	ENSP00000379866:p.Gly341Val	1					COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	p.G341V	NM_000092.4	NP_000083.3	1	2	3	2.111737	P53420	CO4A4_HUMAN		17	1229	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	1	1	hg19	c.1022G>T	CCDS42828.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016752	0.54468	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	D	0.99606	0.9857	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97902	1.0303	9	0.87932	D	0	.	15.3403	0.74290	0.0:1.0:0.0:0.0	.	341	P53420	CO4A4_HUMAN	V	341	ENSP00000379866:G341V;ENSP00000328553:G341V	ENSP00000328553:G341V	G	-	2	0	0	COL4A4	227674471	227674471	0.995000	0.38212	0.988000	0.46212	0.423000	0.31445	3.739000	0.55075	2.779000	0.95612	0.591000	0.81541	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-10.532790	1	0.170000	NM_000092			17	17		108	107	1		1	1		0	0	31	0		9.999755e-01	9.755357e-01	0	20	0	22	0	17	108
COL4A4	1286	broad.mit.edu	37	2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	42	7S domain.				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)			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)		ACCAATGTATTTCTTTCCACT	0.408																																						ENST00000396625.3	1.000000	0.660000	1	8.400000e-01	0.990000	0.942558	0.990000	1.000000																										0				98						c.(124-126)aAa>aCa		collagen, type IV, alpha 4							100.0	97.0	98.0					2																	228004944		1912	4127	6039	SO:0001583	missense	1286	0	0					g.chr2:228004944T>G		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.125A>C	chr2.hg19:g.228004944T>G	ENSP00000379866:p.Lys42Thr	1					COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	p.K42T	NM_000092.4	NP_000083.3	1	2	3	2.111737	P53420	CO4A4_HUMAN		4	332	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	1	1	hg19	c.125A>C	CCDS42828.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079944	0.76528	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91124	-2.79;-2.76	5.91	5.91	0.95273	5.91	5.91	0.95273	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.32287	N	0.566803	D	0.89917	1.0	D	0.85130	0.997	D	0.90618	0.4557	9	0.37606	T	0.19	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	42	P53420	CO4A4_HUMAN	T	42	ENSP00000379866:K42T;ENSP00000328553:K42T	ENSP00000328553:K42T	K	-	2	0	0	COL4A4	227713188	227713188	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	2.456000	0.44997	2.254000	0.74563	0.533000	0.62120	AAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-8.073746	1	0.170000	NM_000092			21	20		240	234	0		1	1		0	0	42	0		9.999973e-01	4.163050e-01	0	2	0	15	0	21	240
COL4A3	1285	broad.mit.edu	37	2	228145242	228145242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	770	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)			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)		ATGGAGAAATTGGACTCCCTG	0.502																																						ENST00000396578.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2308-2310)atT>atC		collagen, type IV, alpha 3 (Goodpasture antigen)							100.0	104.0	102.0					2																	228145242		1882	4120	6002	SO:0001819	synonymous_variant	1285	0	0					g.chr2:228145242T>C		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.2310T>C	chr2.hg19:g.228145242T>C		1					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.I770I	NM_000091.4	NP_000082.2	1	2	3	2.111737	Q01955	CO4A3_HUMAN		30	2472	+		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)	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	1	1	hg19	c.2310T>C	CCDS42829.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	1	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-20.000000	1	0.170000	NM_000091			137	135		381	376	1		1	1		0	0	121	0		1	2.882628e-01	0	3	0	1	0	137	381
COL4A3	1285	broad.mit.edu	37	2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T	rs373982111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1109	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)			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)		CCTGGAAGTCCTGGCCTCCCA	0.507																																						ENST00000396578.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3325-3327)cCt>cTt		collagen, type IV, alpha 3 (Goodpasture antigen)							45.0	51.0	49.0					2																	228158022		1845	4081	5926	SO:0001583	missense	1285	0	0					g.chr2:228158022C>T		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.3326C>T	chr2.hg19:g.228158022C>T	ENSP00000379823:p.Pro1109Leu	1					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.P1109L	NM_000091.4	NP_000082.2	1	2	3	2.111737	Q01955	CO4A3_HUMAN		38	3488	+		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)	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	1	1	hg19	c.3326C>T	CCDS42829.1	1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159271	0.38119	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.96885	-4.09;-4.16	5.73	4.81	0.61882	5.73	4.81	0.61882	.	0.356519	0.24180	N	0.040801	D	0.96895	0.8986	M	0.80183	2.485	0.50039	D	0.999844	D;D;P;P	0.57257	0.979;0.979;0.944;0.954	P;P;P;P	0.52109	0.675;0.675;0.646;0.69	D	0.96731	0.9539	10	0.72032	D	0.01	.	13.3166	0.60411	0.0:0.841:0.159:0.0	.	1109;1109;1109;1109	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1109;1109;1109;1109;1109;146	ENSP00000379823:P1109L;ENSP00000302781:P146L	ENSP00000302781:P146L	P	+	2	0	0	COL4A3	227866266	227866266	0.751000	0.28327	0.997000	0.53966	0.967000	0.64934	1.995000	0.40767	2.868000	0.98415	0.557000	0.71058	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-4.392682	1	0.170000	NM_000091			56	54		179	177	1		1	1		0	0	38	0		1	3.473281e-01	0	2	0	3	0	56	179
MFF	56947	broad.mit.edu	37	2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	46					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)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463																																						ENST00000353339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(136-138)Cga>Tga		mitochondrial fission factor							89.0	75.0	79.0					2																	228195439		2203	4300	6503	SO:0001587	stop_gained	56947	2	121412	30				g.chr2:228195439C>T	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.136C>T	chr2.hg19:g.228195439C>T	ENSP00000302037:p.Arg46*	1					MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000476924.1_Intron	p.R46*	NM_001277061.1	NP_001263990.1	1	2	3	2.111737	Q9GZY8	MFF_HUMAN		4	577	+			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Nonsense_Mutation	SNP	ENST00000353339.3	0	1	hg19	c.136C>T	CCDS2465.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.138563	0.97315	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	.	.	.	5.8	4.87	0.63330	5.8	4.87	0.63330	.	0.108684	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5244	13.5124	0.61519	0.3271:0.6729:0.0:0.0	.	.	.	.	X	20;20;46;20;20;20;20;20;20;20;46;20;46	.	ENSP00000304898:R20X	R	+	1	2	2	MFF	227903683	227903683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	2.741000	0.93983	0.650000	0.86243	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-5.260734	1	0.170000	NM_020194			82	83		240	239	1		1	1		0	0	46	0		1	1	0	18	0	191	0	82	240
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110					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)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398																																						ENST00000353339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(328-330)ccC>ccT		mitochondrial fission factor							232.0	226.0	228.0					2																	228197205		2203	4300	6503	SO:0001819	synonymous_variant	56947	0	0					g.chr2:228197205C>T	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.330C>T	chr2.hg19:g.228197205C>T		1					MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000476924.1_3'UTR	p.P110P	NM_001277061.1	NP_001263990.1	1	2	3	2.111737	Q9GZY8	MFF_HUMAN		5	771	+			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	1	1	hg19	c.330C>T	CCDS2465.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	1		2	2	2	0		0	0	323		323	319	1	2.060000	-7.417710	1	0.170000	NM_020194			386	381		1235	1215	1		1	1		0	0	323	0		1	1	0	30	0	323	0	386	1235
MFF	56947	broad.mit.edu	37	2	228205077	228205077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409616.1_Silent_p.L141L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	167					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)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388																																						ENST00000353339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(499-501)Ctg>Ttg		mitochondrial fission factor							85.0	78.0	81.0					2																	228205077		2203	4300	6503	SO:0001819	synonymous_variant	56947	0	0					g.chr2:228205077C>T	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.499C>T	chr2.hg19:g.228205077C>T		1					MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000349901.7_Silent_p.L141L	p.L167L	NM_001277061.1	NP_001263990.1	1	2	3	2.111737	Q9GZY8	MFF_HUMAN		6	940	+			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	1	1	hg19	c.499C>T	CCDS2465.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_020194			47	46		149	146	0		1	1		0	0	36	0		1	1	0	22	0	288	0	47	149
TM4SF20	79853	broad.mit.edu	37	2	228230946	228230946	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378																																						ENST00000304568.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(262-264)tcA>tcC		transmembrane 4 L six family member 20							106.0	102.0	104.0					2																	228230946		2203	4300	6503	SO:0001819	synonymous_variant	79853	0	0					g.chr2:228230946T>G	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.264A>C	chr2.hg19:g.228230946T>G		1						p.S88S	NM_024795.3	NP_079071.2	1	2	3	2.111737	Q53R12	T4S20_HUMAN		3	301	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	1	1	hg19	c.264A>C	CCDS2466.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_024795			73	73		192	190	1		1	1		0	0	54	0		1	1	0	147	0	0	0	73	192
AGFG1	3267	broad.mit.edu	37	2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.8	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M|AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	430					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333																																						ENST00000310078.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1288-1290)aCg>aTg		ArfGAP with FG repeats 1							62.0	64.0	63.0					2																	228401620		2203	4300	6503	SO:0001583	missense	3267	3	121412	35				g.chr2:228401620C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1289C>T	chr2.hg19:g.228401620C>T	ENSP00000312059:p.Thr430Met	1					AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M	p.T430M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	1	2	3	2.111737	P52594	AGFG1_HUMAN		10	1549	+			B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	1	1	hg19	c.1289C>T	CCDS2467.1	1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595158	0.46318	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.88;1.9;1.84;1.83;1.9	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.264991	0.43416	D	0.000579	T	0.24084	0.0583	N	0.22421	0.69	0.38870	D	0.956668	P;P;D;D	0.54772	0.945;0.954;0.968;0.968	B;P;B;B	0.45449	0.36;0.481;0.197;0.132	T	0.01352	-1.1377	10	0.33940	T	0.23	-0.4976	18.6134	0.91294	0.0:1.0:0.0:0.0	.	390;430;454;430	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	454;439;430;409;390;430	ENSP00000387282:T454M;ENSP00000312059:T430M;ENSP00000387154:T409M;ENSP00000362775:T390M;ENSP00000387218:T430M	ENSP00000312059:T430M	T	+	2	0	0	AGFG1	228109864	228109864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.838000	0.97847	0.591000	0.81541	ACG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_004504			60	60		331	329	1		1	1		0	0	56	0		1	1	0	77	0	193	0	60	331
SPHKAP	80309	broad.mit.edu	37	2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1696						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		AGTTCCAAGAGCCAGTCAAAG	0.438																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(5086-5088)Ctc>Atc		SPHK1 interactor, AKAP domain containing							103.0	91.0	95.0					2																	228846450		2203	4300	6503	SO:0001583	missense	80309	0	0					g.chr2:228846450G>T		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.5086C>A	chr2.hg19:g.228846450G>T	ENSP00000375909:p.Leu1696Ile	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	p.L1696I	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		12	5132	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.5086C>A	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488035	0.84854	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	5.85	5.85	0.93711	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.064498	0.64402	D	0.000011	T	0.37571	0.1008	M	0.64260	1.97	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.909	T	0.00945	-1.1505	10	0.48119	T	0.1	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1696;1667	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1696;1667	ENSP00000375909:L1696I;ENSP00000339886:L1667I	ENSP00000339886:L1667I	L	-	1	0	0	SPHKAP	228554694	228554694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.773000	0.95371	0.655000	0.94253	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.377722	1	0.170000	NM_030623			64	64		301	295	1		1			0	0	67	0		1	0	0	0	0	0	0	64	301
SPHKAP	80309	broad.mit.edu	37	2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1467						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		TCTCACCACATCTGGGATGTT	0.512																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(4399-4401)gAt>gTt		SPHK1 interactor, AKAP domain containing							142.0	141.0	142.0					2																	228881170		2203	4300	6503	SO:0001583	missense	80309	0	0					g.chr2:228881170T>A		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.4400A>T	chr2.hg19:g.228881170T>A	ENSP00000375909:p.Asp1467Val	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	p.D1467V	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		7	4446	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.4400A>T	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502609	0.26949	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.66	2.01	0.26516	5.66	2.01	0.26516	.	0.779472	0.12553	N	0.458917	T	0.11665	0.0284	L	0.60455	1.87	0.21719	N	0.999572	B;P;B	0.47409	0.059;0.895;0.216	B;B;B	0.37943	0.013;0.261;0.049	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.2171	0.15348	0.0:0.1549:0.1519:0.6932	.	498;1467;1467	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1467	ENSP00000375909:D1467V;ENSP00000339886:D1467V	ENSP00000339886:D1467V	D	-	2	0	0	SPHKAP	228589414	228589414	0.633000	0.27181	0.006000	0.13384	0.007000	0.05969	1.138000	0.31491	0.403000	0.25479	-1.209000	0.01634	GAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_030623			213	210		575	565	1		1			0	0	128	0		1	0	0	0	0	0	0	213	575
SPHKAP	80309	broad.mit.edu	37	2	228881439	228881439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1377						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		GTTTACATTCGGTAACAGAGT	0.478																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(4129-4131)acC>acT		SPHK1 interactor, AKAP domain containing							75.0	78.0	77.0					2																	228881439		2203	4300	6503	SO:0001819	synonymous_variant	80309	7	121412	38				g.chr2:228881439G>A		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.4131C>T	chr2.hg19:g.228881439G>A		1					SPHKAP_ENST00000344657.5_Silent_p.T1377T	p.T1377T	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		7	4177	-		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)	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	1	1	hg19	c.4131C>T	CCDS46537.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.567495	1	0.170000	NM_030623			101	101		506	497	1		1			0	0	75	0		1	0	0	0	0	0	0	101	506
SPHKAP	80309	broad.mit.edu	37	2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1280						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		GGATGAGGACGCGCTACTGAC	0.512																																						ENST00000392056.3	1.000000	0.810000	1	9.500000e-01	0.990000	0.980225	0.990000	1.000000																										0				185						c.(3838-3840)gCg>gTg		SPHK1 interactor, AKAP domain containing							84.0	82.0	82.0					2																	228881731		2203	4300	6503	SO:0001583	missense	80309	1	121412	36				g.chr2:228881731G>A		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.3839C>T	chr2.hg19:g.228881731G>A	ENSP00000375909:p.Ala1280Val	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	p.A1280V	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		7	3885	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.3839C>T	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597112	0.00857	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.08	3.98	0.46160	6.08	3.98	0.46160	.	0.362355	0.31381	N	0.007752	T	0.25232	0.0613	L	0.33137	0.985	0.09310	N	0.999992	B;B;B	0.17465	0.007;0.014;0.022	B;B;B	0.11329	0.002;0.001;0.006	T	0.12319	-1.0552	10	0.15499	T	0.54	.	4.4234	0.11492	0.4415:0.0:0.5585:0.0	.	311;1280;1280	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1280	ENSP00000375909:A1280V;ENSP00000339886:A1280V	ENSP00000339886:A1280V	A	-	2	0	0	SPHKAP	228589975	228589975	0.002000	0.14202	0.045000	0.18777	0.002000	0.02628	1.742000	0.38248	1.503000	0.48686	0.655000	0.94253	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_030623			37	36		384	376	0		1			0	0	76	0		1	0	0	0	0	0	0	37	384
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A875D(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)		ACTCTCCTCAGCCTCCTGGGA	0.507																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A875D(2)	lung(2)	185						c.(2623-2625)gCt>gTt		SPHK1 interactor, AKAP domain containing							504.0	485.0	491.0					2																	228882946		2203	4300	6503	SO:0001583	missense	80309	0	0					g.chr2:228882946G>A		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.2624C>T	chr2.hg19:g.228882946G>A	ENSP00000375909:p.Ala875Val	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	p.A875V	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		7	2670	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.2624C>T	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374956	0.11409	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.91	0.762	0.18454	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B;P	0.39424	0.03;0.673	B;B	0.33254	0.008;0.16	T	0.25537	-1.0129	10	0.33940	T	0.23	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	875	ENSP00000375909:A875V;ENSP00000339886:A875V	ENSP00000339886:A875V	A	-	2	0	0	SPHKAP	228591190	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-20.000000	1	0.170000	NM_030623			179	174		878	858	1		1			0	0	167	0		1	0	0	0	0	0	0	179	878
SPHKAP	80309	broad.mit.edu	37	2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	356						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		CACAGCACATGCAGAAGGTAC	0.433																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(1066-1068)gCa>gTa		SPHK1 interactor, AKAP domain containing							147.0	133.0	137.0					2																	228884503		2203	4300	6503	SO:0001583	missense	80309	0	0					g.chr2:228884503G>A		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.1067C>T	chr2.hg19:g.228884503G>A	ENSP00000375909:p.Ala356Val	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	p.A356V	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		7	1113	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.1067C>T	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005323	0.02112	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.79	2.54	0.30619	5.79	2.54	0.30619	.	0.779787	0.12023	N	0.506731	T	0.05410	0.0143	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.002;0.009	T	0.44922	-0.9296	10	0.15066	T	0.55	.	4.9752	0.14136	0.3529:0.1553:0.4918:0.0	.	356;356	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	356	ENSP00000375909:A356V;ENSP00000339886:A356V	ENSP00000339886:A356V	A	-	2	0	0	SPHKAP	228592747	228592747	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.351000	0.20096	0.755000	0.32990	0.655000	0.94253	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	119		119	116	1	2.060000	-20.000000	1	0.170000	NM_030623			216	215		545	533	1		1			0	0	119	0		1	0	0	0	0	0	0	216	545
SPHKAP	80309	broad.mit.edu	37	2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		ACAGGCTGTGATGGAGTTCCC	0.473																																						ENST00000392056.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				185						c.(121-123)aTc>aCc		SPHK1 interactor, AKAP domain containing							90.0	96.0	94.0					2																	228996712		2203	4300	6503	SO:0001583	missense	80309	0	0					g.chr2:228996712A>G		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.122T>C	chr2.hg19:g.228996712A>G	ENSP00000375909:p.Ile41Thr	1					SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	p.I41T	NM_001142644.1	NP_001136116.1	1	2	3	2.111737	Q2M3C7	SPKAP_HUMAN		2	168	-		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)	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	1	1	hg19	c.122T>C	CCDS46537.1	1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129324	0.37630	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36340	1.26;1.26	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.151419	0.44483	D	0.000459	T	0.27524	0.0676	N	0.14661	0.345	0.39407	D	0.966687	P;P	0.47762	0.839;0.9	B;P	0.44990	0.276;0.466	T	0.14062	-1.0486	10	0.59425	D	0.04	-12.1023	12.5296	0.56106	1.0:0.0:0.0:0.0	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	41	ENSP00000375909:I41T;ENSP00000339886:I41T	ENSP00000339886:I41T	I	-	2	0	0	SPHKAP	228704956	228704956	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.777000	0.62361	2.281000	0.76405	0.533000	0.62120	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_030623			56	56		368	361	1		1			0	0	83	0		1	0	0	0	0	0	0	56	368
DNER	92737	broad.mit.edu	37	2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	666					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)			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)		GTATTCAATGCGGCTGATGCG	0.542																																						ENST00000341772.4	1.000000	0.720000	1	9.000000e-01	0.990000	0.964485	0.990000	1.000000																										0				63						c.(1996-1998)cGc>cAc		delta/notch-like EGF repeat containing							59.0	51.0	54.0					2																	230231694		2203	4300	6503	SO:0001583	missense	92737	14	121412	38				g.chr2:230231694C>T	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.1997G>A	chr2.hg19:g.230231694C>T	ENSP00000345229:p.Arg666His	1						p.R666H	NM_139072.3	NP_620711.3	1	2	3	2.111737	Q8NFT8	DNER_HUMAN		12	2131	-		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)	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	1	1	hg19	c.1997G>A	CCDS33390.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.595384	0.96602	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86097	-2.07	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87291	0.2299	10	0.39692	T	0.17	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	666	Q8NFT8	DNER_HUMAN	H	666;384	ENSP00000345229:R666H	ENSP00000345229:R666H	R	-	2	0	0	DNER	229939938	229939938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.221883	1	0.170000	NM_139072			21	21		221	220	0		1	0		0	0	49	0		9.999980e-01	7.787303e-01	0	0	0	32	0	21	221
TRIP12	9320	broad.mit.edu	37	2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000283943.5	-	38	5703	c.5525G>T	c.(5524-5526)aGa>aTa	p.R1842I	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1842					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)			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)		AAATCCATCTCTGAACGAATC	0.368																																						ENST00000283943.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(5524-5526)aGa>aTa		thyroid hormone receptor interactor 12							84.0	83.0	83.0					2																	230636293		2203	4300	6503	SO:0001583	missense	9320	0	0					g.chr2:230636293C>A	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.5525G>T	chr2.hg19:g.230636293C>A	ENSP00000283943:p.Arg1842Ile	1					TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	p.R1842I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	1	2	3	2.111737	Q14669	TRIPC_HUMAN		38	5703	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	1	1	hg19	c.5525G>T	CCDS33391.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.292648	0.95546	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.8;0.8;0.8	5.85	5.85	0.93711	5.85	5.85	0.93711	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.41961	1.31	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.64715	-0.6342	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1572;1890;1842	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1842;1572;1890	ENSP00000283943:R1842I;ENSP00000373697:R1572I;ENSP00000373696:R1890I	ENSP00000283943:R1842I	R	-	2	0	0	TRIP12	230344537	230344537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.767000	0.95098	0.563000	0.77884	AGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.977471	1	0.170000	NM_004238			59	55		254	247	1		1	1		0	0	71	0		1	1	0	88	0	353	0	59	254
TRIP12	9320	broad.mit.edu	37	2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000283943.5	-	20	3126	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	983					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)			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)		ATCATCCCTGCTGTGCTGCAA	0.488																																						ENST00000283943.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(2947-2949)aGc>aTc		thyroid hormone receptor interactor 12							67.0	59.0	62.0					2																	230667001		2203	4300	6503	SO:0001583	missense	9320	0	0					g.chr2:230667001C>A	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.2948G>T	chr2.hg19:g.230667001C>A	ENSP00000283943:p.Ser983Ile	1					TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	p.S983I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	1	2	3	2.111737	Q14669	TRIPC_HUMAN		20	3126	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	1	1	hg19	c.2948G>T	CCDS33391.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311983	0.81358	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.81;1.19;0.8	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.041280	0.85682	D	0.000000	T	0.32793	0.0841	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.28784	0.094;0.094;0.094	T	0.15093	-1.0449	10	0.37606	T	0.19	.	17.379	0.87399	0.0:1.0:0.0:0.0	.	713;1031;983	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	983;713;1031	ENSP00000283943:S983I;ENSP00000373697:S713I;ENSP00000373696:S1031I	ENSP00000283943:S983I	S	-	2	0	0	TRIP12	230375245	230375245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.521000	0.84997	0.585000	0.79938	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_004238			84	84		207	202	1		1	1		0	0	52	0		1	1	0	79	0	132	0	84	207
FBXO36	130888	broad.mit.edu	37	2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000283946.3	+	4	529	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W|FBXO36_ENST00000373652.3_Missense_Mutation_p.R140W	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCTCCAGCGGCAGCTCCG	0.552																																						ENST00000283946.3	1.000000	0.700000	1	9.200000e-01	0.990000	0.966858	0.990000	1.000000																										0				7						c.(511-513)Cgg>Tgg		F-box protein 36		C	TRP/ARG	0,4406		0,0,2203	36.0	35.0	35.0		511	4.0	1.0	2	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	no	missense	FBXO36	NM_174899.4	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	171/189	230875544	2,13004	2203	4300	6503	SO:0001583	missense	130888	1	121410	35				g.chr2:230875544C>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.511C>T	chr2.hg19:g.230875544C>T	ENSP00000283946:p.Arg171Trp	1					FBXO36_ENST00000373652.3_Missense_Mutation_p.R140W|FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W	p.R171W	NM_174899.4	NP_777559.3	1	2	3	2.111737	Q8NEA4	FBX36_HUMAN		4	529	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	1	1	hg19	c.511C>T	CCDS2472.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644135	0.67244	0.0	2.33E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.22743	1.94;1.94;1.94	4.86	3.95	0.45737	4.86	3.95	0.45737	F-box domain, Skp2-like (1);	0.622148	0.14637	N	0.307472	T	0.22085	0.0532	L	0.56769	1.78	0.34736	D	0.730262	D;D	0.69078	0.997;0.994	P;P	0.44477	0.451;0.451	T	0.31861	-0.9928	10	0.40728	T	0.16	-6.2447	6.8825	0.24181	0.1827:0.7261:0.0:0.0912	.	140;171	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	W	140;171;151	ENSP00000362756:R140W;ENSP00000283946:R171W;ENSP00000386673:R151W	ENSP00000283946:R171W	R	+	1	2	2	FBXO36	230583788	230583788	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.779000	0.26746	0.964000	0.38108	0.511000	0.50034	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.971870	1	0.170000	NM_174899			15	15		149	148	0		1	1		0	0	41	0		9.998923e-01	5.183075e-01	0	5	0	13	0	15	149
SLC16A14	151473	broad.mit.edu	37	2	230911293	230911293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			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)		CGTACTCTGCGCACAGGTACT	0.577																																						ENST00000295190.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(547-549)tgC>tgT		solute carrier family 16, member 14							92.0	90.0	91.0					2																	230911293		2203	4300	6503	SO:0001819	synonymous_variant	151473	0	0					g.chr2:230911293G>A	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.549C>T	chr2.hg19:g.230911293G>A		1						p.C183C	NM_152527.4	NP_689740.2	1	2	3	2.111737	Q7RTX9	MOT14_HUMAN		4	1007	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	1	1	hg19	c.549C>T	CCDS2473.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-3.324735	1	0.170000	NM_152527			103	104		522	517	1		1	0		0	0	127	0		1	1.952204e-01	0	0	0	5	0	103	522
SP110	3431	broad.mit.edu	37	2	231077540	231077540	+	Silent	SNP	C	C	T	rs114550400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000358662.4	-	4	597	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258381.6_Silent_p.S173S|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000392048.3_Silent_p.S173S	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	173			S -> L (in dbSNP:rs41552315).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18409	0.001		0.0	False		,,,				2504	0.0					ENST00000358662.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(517-519)tcG>tcA		SP110 nuclear body protein		C	,,,	0,4406		0,0,2203	168.0	163.0	165.0		537,519,519,519	-6.6	0.0	2	dbSNP_132	165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	179/556,173/690,173/550,173/714	231077540	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3431	20	121412	48				g.chr2:231077540C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.519G>A	chr2.hg19:g.231077540C>T		1					SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000258381.6_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR	p.S173S	NM_004509.3	NP_004500	1	2	3	2.111737	Q9HB58	SP110_HUMAN		4	597	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	1	1	hg19	c.519G>A	CCDS2474.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	0	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-3.319069	1	0.170000	NM_080424			147	137		781	759	1		1	1		0	0	159	0		1	1	0	42	0	178	0	147	781
SP140	11262	broad.mit.edu	37	2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000392045.3	+	23	2272	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	720					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)			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)		TCACATCCCGCCTGTGGAAGC	0.547																																						ENST00000392045.3	1.000000	0.720000	1	8.600000e-01	0.990000	0.952948	0.990000	1.000000																										0				12						c.(2158-2160)Cct>Tct		SP140 nuclear body protein							115.0	125.0	122.0					2																	231174738		2186	4296	6482	SO:0001583	missense	11262	0	0					g.chr2:231174738C>T	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.2158C>T	chr2.hg19:g.231174738C>T	ENSP00000375899:p.Pro720Ser	1					SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S	p.P720S	NM_007237.4	NP_009168.4	1	2	3	2.111737	Q13342	SP140_HUMAN		23	2272	+		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)	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	1	1	hg19	c.2158C>T	CCDS42831.1	1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180769	0.21787	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	2.91	0.963	0.19649	2.91	0.963	0.19649	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.86990	0.6066	L	0.52126	1.63	0.09310	N	1	D;D;D;P	0.89917	1.0;0.993;0.996;0.757	D;D;D;P	0.83275	0.996;0.968;0.986;0.457	T	0.73871	-0.3846	9	0.44086	T	0.13	-1.6218	4.0335	0.09719	0.0:0.6115:0.2464:0.1421	.	693;606;660;720	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	644;589;720;606;660;693	ENSP00000440107:P644S;ENSP00000345846:P589S;ENSP00000375899:P720S;ENSP00000342096:P660S;ENSP00000398210:P693S	ENSP00000342096:P660S	P	+	1	0	0	SP140	230882982	230882982	0.000000	0.05858	0.070000	0.20053	0.074000	0.17049	0.115000	0.15540	0.255000	0.21593	0.456000	0.33151	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-9.998329	1	0.170000	NM_007237			33	32		378	365	0		1	0		0	0	58	0		1	2.598562e-01	0	0	0	12	0	33	378
SP140L	93349	broad.mit.edu	37	2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T	rs183430708	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000415673.2	+	6	628	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L|SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	181						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532																																						ENST00000415673.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				20						c.(541-543)cCg>cTg		SP140 nuclear body protein-like		C	LEU/PRO	1,3957		0,1,1978	73.0	79.0	77.0		542	-2.5	0.0	2		77	4,8316		0,4,4156	yes	missense	SP140L	NM_138402.4	98	0,5,6134	TT,TC,CC		0.0481,0.0253,0.0407	benign	181/581	231235641	5,12273	1979	4160	6139	SO:0001583	missense	93349	38	120930	46				g.chr2:231235641C>T	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.542C>T	chr2.hg19:g.231235641C>T	ENSP00000397911:p.Pro181Leu	1					SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L	p.P181L	NM_138402.4	NP_612411.4	1	2	3	2.111737	Q9H930	SP14L_HUMAN		6	628	+			Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	1	1	hg19	c.542C>T	CCDS46538.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.96	1.498004	0.26861	2.53E-4	4.81E-4	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83914	-1.58;-1.22;-1.58;-1.78;0.79	2.26	-2.5	0.06384	2.26	-2.5	0.06384	.	.	.	.	.	T	0.66655	0.2811	L	0.40543	1.245	0.09310	N	1	B;B	0.26809	0.017;0.16	B;B	0.22753	0.006;0.041	T	0.52396	-0.8581	9	0.07325	T	0.83	.	4.1643	0.10300	0.2946:0.5149:0.0:0.1905	.	94;181	Q9H930-3;Q9H930-4	.;.	L	181;181;181;181;94	ENSP00000395195:P181L;ENSP00000397911:P181L;ENSP00000243810:P181L;ENSP00000379811:P181L;ENSP00000395223:P94L	ENSP00000243810:P181L	P	+	2	0	0	SP140L	230943885	230943885	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.520000	0.02241	-0.549000	0.06191	0.313000	0.20887	CCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.229561	1	0.170000	NM_138402			25	24		114	111	1		1	1		0	0	29	0		9.999999e-01	1	0	22	0	144	0	25	114
SP140L	93349	broad.mit.edu	37	2	231256917	231256917	+	Silent	SNP	C	C	T	rs367991609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000415673.2	+	12	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000444636.1_Silent_p.G360G|SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	360	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493																																						ENST00000415673.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1078-1080)ggC>ggT		SP140 nuclear body protein-like							88.0	104.0	99.0					2																	231256917		2066	4195	6261	SO:0001819	synonymous_variant	93349	0	0					g.chr2:231256917C>T	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.1080C>T	chr2.hg19:g.231256917C>T		1					SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G|SP140L_ENST00000444636.1_Silent_p.G360G	p.G360G	NM_138402.4	NP_612411.4	1	2	3	2.111737	Q9H930	SP14L_HUMAN		12	1166	+			Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	1	0	hg19	c.1080C>T	CCDS46538.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1		2	2	2	0		0	0	75		75	62	1	2.060000	-1.806322	0	0.170000	NM_138402			87	84		327	284	1		1	1		0	0	75	0		1	9.999972e-01	0	37	0	35	0	87	327
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000415673.2	+	15	1323	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000444636.1_Missense_Mutation_p.G413R|SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	413						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522																																						ENST00000415673.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.G413W(2)	lung(2)	20						c.(1237-1239)Ggg>Agg		SP140 nuclear body protein-like							190.0	196.0	194.0					2																	231264881		2082	4238	6320	SO:0001583	missense	93349	1	121082	31				g.chr2:231264881G>A	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.1237G>A	chr2.hg19:g.231264881G>A	ENSP00000397911:p.Gly413Arg	1					SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R	p.G413R	NM_138402.4	NP_612411.4	1	2	3	2.111737	Q9H930	SP14L_HUMAN		15	1323	+			Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	1	1	hg19	c.1237G>A	CCDS46538.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848324	0.51164	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.5	2.61	0.31194	3.5	2.61	0.31194	.	.	.	.	.	D	0.94611	0.8263	M	0.93062	3.375	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.962	D	0.85800	0.1373	9	0.87932	D	0	.	6.6587	0.23002	0.1347:0.0:0.8653:0.0	.	378;413	Q9H930-2;Q9H930-4	.;.	R	413;413;413;378	ENSP00000395195:G413R;ENSP00000397911:G413R;ENSP00000243810:G413R;ENSP00000379811:G378R	ENSP00000243810:G413R	G	+	1	0	0	SP140L	230973125	230973125	0.965000	0.33210	0.012000	0.15200	0.175000	0.22909	2.883000	0.48554	0.806000	0.34183	0.491000	0.48974	GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	0		2	2	2	0		0	0	107		107	106	1	2.060000	-3.291654	1	0.170000	NM_138402			104	102		405	400	1		1	1		0	0	107	0		1	9.999992e-01	0	46	0	34	0	104	405
SP140L	93349	broad.mit.edu	37	2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000415673.2	+	15	1392	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000444636.1_Missense_Mutation_p.S436G|SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	436						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527																																						ENST00000415673.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1306-1308)Agt>Ggt		SP140 nuclear body protein-like							114.0	118.0	116.0					2																	231264950		2090	4242	6332	SO:0001583	missense	93349	0	0					g.chr2:231264950A>G	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.1306A>G	chr2.hg19:g.231264950A>G	ENSP00000397911:p.Ser436Gly	1					SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G	p.S436G	NM_138402.4	NP_612411.4	1	2	3	2.111737	Q9H930	SP14L_HUMAN		15	1392	+			Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	1	1	hg19	c.1306A>G	CCDS46538.1	1	.	.	.	.	.	.	.	.	.	.	a	8.272	0.813488	0.16537	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.85339	-1.64;-1.97;-1.64;-1.76	2.8	-4.25	0.03766	2.8	-4.25	0.03766	.	.	.	.	.	T	0.76976	0.4063	L	0.46819	1.47	0.09310	N	1	B;B	0.19331	0.035;0.03	B;B	0.23716	0.048;0.043	T	0.64411	-0.6414	9	0.66056	D	0.02	.	5.9102	0.19025	0.1977:0.0:0.6305:0.1718	.	401;436	Q9H930-2;Q9H930-4	.;.	G	436;436;436;401	ENSP00000395195:S436G;ENSP00000397911:S436G;ENSP00000243810:S436G;ENSP00000379811:S401G	ENSP00000243810:S436G	S	+	1	0	0	SP140L	230973194	230973194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.530000	0.02221	-0.912000	0.03837	-2.382000	0.00231	AGT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	0		16	2	2	0		0	1	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_138402			57	55		242	239	0		1	1		0	0	66	0		9.999999e-01	9.999737e-01	0	11	0	58	0	57	242
SP100	6672	broad.mit.edu	37	2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	102	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398																																						ENST00000264052.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(304-306)gTa>gCa		SP100 nuclear antigen							101.0	102.0	102.0					2																	231308927		2203	4300	6503	SO:0001583	missense	6672	0	0					g.chr2:231308927T>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.305T>C	chr2.hg19:g.231308927T>C	ENSP00000264052:p.Val102Ala	1					SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A	p.V102A	NM_003113.3	NP_003104.2	1	2	3	2.111737	P23497	SP100_HUMAN		4	660	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	1	1	hg19	c.305T>C	CCDS2477.1	1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729837	0.30684	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.89	3.89	0.44902	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.97059	0.9039	M	0.79123	2.44	0.09310	N	0.999999	D;D;D;D;D;D;P;D	0.76494	0.993;0.996;0.995;0.993;0.999;0.979;0.955;0.998	P;D;D;P;D;P;P;D	0.72625	0.907;0.932;0.944;0.775;0.978;0.779;0.858;0.948	D	0.91134	0.4940	9	0.87932	D	0	.	9.3921	0.38378	0.0:0.0:0.0:1.0	.	77;102;67;102;102;102;77;102	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	A	102;77;77;77;102;102;102;102;67	ENSP00000264052:V102A;ENSP00000399389:V77A;ENSP00000391616:V77A;ENSP00000387311:V77A;ENSP00000386404:V102A;ENSP00000386427:V102A;ENSP00000343023:V102A;ENSP00000342729:V102A;ENSP00000386998:V67A	ENSP00000264052:V102A	V	+	2	0	0	SP100	231017171	231017171	0.896000	0.30565	0.350000	0.25708	0.016000	0.09150	2.865000	0.48412	1.997000	0.58415	0.455000	0.32223	GTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	0	0	1		19	13	2	1		1	1	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_003113			100	100		476	470	1		1	1		1	0	99	0		1	1	0	31	0	292	0	100	476
SP100	6672	broad.mit.edu	37	2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T	rs566762218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	740					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20354	0.0		0.001	False		,,,				2504	0.0					ENST00000264052.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2218-2220)gCg>gTg		SP100 nuclear antigen							49.0	53.0	52.0					2																	231379934		2203	4298	6501	SO:0001583	missense	6672	2	121404	33				g.chr2:231379934C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2219C>T	chr2.hg19:g.231379934C>T	ENSP00000264052:p.Ala740Val	1					SP100_ENST00000340126.4_Intron	p.A740V	NM_003113.3	NP_003104.2	1	2	3	2.111737	P23497	SP100_HUMAN		25	2574	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	1	1	hg19	c.2219C>T	CCDS2477.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466350	0.26335	.	.	ENSG00000067066	ENST00000264052	T	0.15139	2.45	0.158	0.158	0.14942	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.14270	0.0345	L	0.54908	1.71	0.80722	D	1	B	0.23377	0.084	B	0.13407	0.009	T	0.06899	-1.0801	9	0.59425	D	0.04	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	740	P23497	SP100_HUMAN	V	740	ENSP00000264052:A740V	ENSP00000264052:A740V	A	+	2	0	0	SP100	231088178	231088178	0.770000	0.28543	0.015000	0.15790	0.015000	0.08874	0.844000	0.27654	0.202000	0.20498	0.205000	0.17691	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_003113			82	79		432	424	0		1	0		0	0	86	0		1	8.677038e-01	0	1	0	20	0	82	432
SP100	6672	broad.mit.edu	37	2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458																																						ENST00000340126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2434-2436)Ccc>Tcc		SP100 nuclear antigen							92.0	90.0	90.0					2																	231406637		1887	4114	6001	SO:0001583	missense	6672	0	0					g.chr2:231406637C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2434C>T	chr2.hg19:g.231406637C>T	ENSP00000343023:p.Pro812Ser	1					AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	p.P812S	NM_001080391.1	NP_001073860.1	1	2	3	2.111737	P23497	SP100_HUMAN		28	2465	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	1	1	hg19	c.2434C>T	CCDS42832.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.06|14.06	2.421720|2.421720	0.43020|0.43020	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|D	.|0.82255	.|-1.59	4.13|4.13	-1.34|-1.34	0.09143|0.09143	4.13|4.13	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.79828|0.79828	0.4513|0.4513	M|M	0.74389|0.74389	2.26|2.26	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.20550	.|0.021;0.046	.|B;B	.|0.21360	.|0.012;0.034	T|T	0.69702|0.69702	-0.5074|-0.5074	5|9	.|0.62326	.|D	.|0.03	.|.	7.852|7.852	0.29459|0.29459	0.0:0.393:0.0:0.607|0.0:0.393:0.0:0.607	.|.	.|282;812	.|E9PHN1;P23497-4	.|.;.	V|S	185|812;282	.|ENSP00000343023:P812S	.|ENSP00000343023:P812S	A|P	+|+	2|1	0|0	0|0	SP100|SP100	231114881|231114881	231114881|231114881	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	0.029000|0.029000	0.13666|0.13666	-0.279000|-0.279000	0.09167|0.09167	-0.136000|-0.136000	0.14681|0.14681	GCC|CCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_003113			55	54		250	247	1		1	1		0	0	65	0		1	9.999999e-01	0	47	0	63	0	55	250
CAB39	51719	broad.mit.edu	37	2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	112					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)			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)		CAAATTGGTACGAGAACTCCT	0.328																																						ENST00000258418.5	1.000000	0.660000	1	8.100000e-01	0.980000	0.927967	0.980000	1.000000																										0				3						c.(334-336)aCg>aTg		calcium binding protein 39							123.0	122.0	122.0					2																	231657983		2203	4300	6503	SO:0001583	missense	51719	0	0					g.chr2:231657983C>T	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.335C>T	chr2.hg19:g.231657983C>T	ENSP00000258418:p.Thr112Met	1					CAB39_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_Missense_Mutation_p.T112M	p.T112M	NM_016289.3	NP_057373.1	1	2	3	2.111737	Q9Y376	CAB39_HUMAN		4	764	+		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)	A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	1	1	hg19	c.335C>T	CCDS2478.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895363	0.91962	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.30714	1.52;1.52;1.52	6.04	6.04	0.98038	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	P	0.53450	0.726	T	0.63866	-0.6540	10	0.72032	D	0.01	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	112	Q9Y376	CAB39_HUMAN	M	112	ENSP00000258418:T112M;ENSP00000386238:T112M;ENSP00000386642:T112M	ENSP00000258418:T112M	T	+	2	0	0	CAB39	231366227	231366227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.873000	0.98535	0.563000	0.77884	ACG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-3.221882	1	0.170000	NM_016289			28	28		340	333	0		1	1		0	0	109	0		1	9.999994e-01	0	26	0	257	0	28	340
GPR55	9290	broad.mit.edu	37	2	231775371	231775371	+	Missense_Mutation	SNP	C	C	T	rs80290067	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231775371C>T	ENST00000392040.1	-	2	499	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	GPR55_ENST00000392039.2_Missense_Mutation_p.V103I|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	103					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TACATGCTGACGAAGTAAAGG	0.597													c|||	144	0.028754	0.1051	0.0072	5008	,	,		21034	0.0		0.0	False		,,,				2504	0.0					ENST00000392040.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(307-309)Gtc>Atc		G protein-coupled receptor 55		C	ILE/VAL	423,3983	197.1+/-221.3	26,371,1806	66.0	44.0	52.0		307	-5.3	0.7	2	dbSNP_131	52	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GPR55	NM_005683.3	29	26,376,6101	TT,TC,CC		0.0581,9.6005,3.2908	benign	103/320	231775371	428,12578	2203	4300	6503	SO:0001583	missense	9290	1068	121410	60				g.chr2:231775371C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.307G>A	chr2.hg19:g.231775371C>T	ENSP00000375894:p.Val103Ile	1					AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.V103I	p.V103I	NM_005683.3	NP_005674.2	1	2	3	2.111737	Q9Y2T6	GPR55_HUMAN		2	499	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	Q8N580	Missense_Mutation	SNP	ENST00000392040.1	1	0	hg19	c.307G>A	CCDS2480.1	1	53	0.024267399267399268	49	0.09959349593495935	4	0.011049723756906077	0	0.0	0	0.0	c	0.687	-0.795929	0.02862	0.096005	5.81E-4	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.72835	-0.69;-0.69;-0.69	5.38	-5.31	0.02730	5.38	-5.31	0.02730	GPCR, rhodopsin-like superfamily (1);	0.408961	0.25774	N	0.028383	T	0.01254	0.0041	N	0.12569	0.235	0.24899	N	0.992118	B	0.17465	0.022	B	0.15870	0.014	T	0.13442	-1.0509	10	0.02654	T	1	-33.6109	12.2542	0.54615	0.0:0.5177:0.0:0.4823	.	103	Q9Y2T6	GPR55_HUMAN	I	103	ENSP00000375894:V103I;ENSP00000375893:V103I;ENSP00000412768:V103I	ENSP00000375893:V103I	V	-	1	0	0	GPR55	231483615	231483615	0.000000	0.05858	0.728000	0.30774	0.241000	0.25554	-0.686000	0.05161	-0.943000	0.03691	-1.598000	0.00824	GTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.294371	0	0.170000	NM_005683			50	50		216	210	1		1	0		0	0	48	0		1	3.678633e-02	0	0	0	2	0	50	216
PSMD1	5707	broad.mit.edu	37	2	231927223	231927223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000373635.4_Silent_p.E46E|PSMD1_ENST00000409643.1_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	46					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)			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)	CTTTCAGAGAGGTTTTATACG	0.393																																						ENST00000308696.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(136-138)gaG>gaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						75.0	80.0	78.0					2																	231927223		2203	4299	6502	SO:0001819	synonymous_variant	5707	0	0					g.chr2:231927223G>A	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.138G>A	chr2.hg19:g.231927223G>A		1					PSMD1_ENST00000373635.4_Silent_p.E46E|PSMD1_ENST00000409643.1_Silent_p.E46E	p.E46E	NM_002807.3	NP_002798.2	1	2	3	2.111737	Q99460	PSMD1_HUMAN		4	300	+		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)	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	1	1	hg19	c.138G>A	CCDS2482.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	0		2	2	2	0		0	0	75		75	74	1	2.060000	-3.143883	1	0.170000				75	73		422	415	1		1	1		0	0	75	0		1	1	0	38	0	146	0	75	422
PSMD1	5707	broad.mit.edu	37	2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T|PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	64					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)			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)	AGCCTTAGTGGCATCTAAAGT	0.418																																						ENST00000308696.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(190-192)Gca>Aca		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						91.0	95.0	94.0					2																	231927275		2203	4300	6503	SO:0001583	missense	5707	0	0					g.chr2:231927275G>A	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.190G>A	chr2.hg19:g.231927275G>A	ENSP00000309474:p.Ala64Thr	1					PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T|PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T	p.A64T	NM_002807.3	NP_002798.2	1	2	3	2.111737	Q99460	PSMD1_HUMAN		4	352	+		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)	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	1	1	hg19	c.190G>A	CCDS2482.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.640935	0.96693	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	6.08	6.08	0.98989	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	P;D	0.58268	0.691;0.982	B;P	0.47470	0.259;0.548	T	0.45249	-0.9274	10	0.48119	T	0.1	-5.3206	20.6634	0.99662	0.0:0.0:1.0:0.0	.	64;64	Q99460;Q99460-2	PSMD1_HUMAN;.	T	64	ENSP00000309474:A64T;ENSP00000362738:A64T;ENSP00000386932:A64T	ENSP00000309474:A64T	A	+	1	0	0	PSMD1	231635519	231635519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				146	145		438	434	1		1	1		0	0	82	0		1	1	0	81	0	157	0	146	438
HTR2B	3357	broad.mit.edu	37	2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	204					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CAAGTGATATTGTTTGGGTTG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(610-612)Aat>Cat		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)						110.0	99.0	103.0					2																	231974067		2203	4300	6503	SO:0001583	missense	3357	0	0					g.chr2:231974067T>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.610A>C	chr2.hg19:g.231974067T>G	ENSP00000258400:p.Asn204His	1					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	p.N204H	NM_000867.4	NP_000858.3	1	2	3	2.111737	P41595	5HT2B_HUMAN		4	1122	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	1	1	hg19	c.610A>C	CCDS2483.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257398	0.80246	.	.	ENSG00000135914	ENST00000258400	T	0.32988	1.43	5.73	5.73	0.89815	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.080696	0.85682	D	0.000000	T	0.51381	0.1671	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.48725	-0.9010	10	0.49607	T	0.09	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	19;204	B3VRC5;P41595	.;5HT2B_HUMAN	H	204	ENSP00000258400:N204H	ENSP00000258400:N204H	N	-	1	0	0	HTR2B	231682311	231682311	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.484000	0.81180	2.186000	0.69663	0.533000	0.62120	AAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_000867			102	101		284	274	1		1	1		0	0	82	0		1	1	0	36	0	55	0	102	284
PSMD1	5707	broad.mit.edu	37	2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L|PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	701					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)			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)	GCAGACTGAAATCACTTGTCC	0.423																																						ENST00000308696.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2101-2103)Atc>Ctc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						102.0	95.0	98.0					2																	232011056		2203	4300	6503	SO:0001583	missense	5707	0	0					g.chr2:232011056A>C	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.2101A>C	chr2.hg19:g.232011056A>C	ENSP00000309474:p.Ile701Leu	1					PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L|PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L	p.I701L	NM_002807.3	NP_002798.2	1	2	3	2.111737	Q99460	PSMD1_HUMAN		18	2263	+		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)	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	1	1	hg19	c.2101A>C	CCDS2482.1	1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955218	0.53293	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.054170	0.85682	D	0.000000	T	0.18257	0.0438	N	0.08118	0	0.52501	D	0.999955	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.04053	-1.0981	10	0.48119	T	0.1	-12.4273	14.2797	0.66202	1.0:0.0:0.0:0.0	.	701;701	Q99460;Q99460-2	PSMD1_HUMAN;.	L	701	ENSP00000309474:I701L;ENSP00000362738:I701L;ENSP00000386932:I701L	ENSP00000309474:I701L	I	+	1	0	0	PSMD1	231719300	231719300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.073000	0.62155	0.454000	0.30748	ATC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				133	130		429	422	1		1	1		0	0	96	0		1	1	0	93	0	210	0	133	429
PSMD1	5707	broad.mit.edu	37	2	232030716	232030716	+	Silent	SNP	C	C	T	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	ENST00000308696.6	+	23	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_ENST00000373635.4_Silent_p.Y869Y|PSMD1_ENST00000409643.1_Silent_p.Y869Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	900					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)			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)	CCTGTAGATACCAGCCTTTCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17246	0.0		0.001	False		,,,				2504	0.0					ENST00000308696.6	1.000000	0.700000	1	8.300000e-01	0.980000	0.935808	0.980000	1.000000																										0				31						c.(2698-2700)taC>taT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)	C	,	1,4405	2.1+/-5.4	0,1,2202	118.0	117.0	117.0		2607,2700	6.1	1.0	2	dbSNP_134	117	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	PSMD1	NM_001191037.1,NM_002807.3	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	869/923,900/954	232030716	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5707	27	121412	46				g.chr2:232030716C>T	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.2700C>T	chr2.hg19:g.232030716C>T		1					PSMD1_ENST00000373635.4_Silent_p.Y869Y|PSMD1_ENST00000409643.1_Silent_p.Y869Y	p.Y900Y	NM_002807.3	NP_002798.2	1	2	3	2.111737	Q99460	PSMD1_HUMAN		23	2862	+		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)	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	1	1	hg19	c.2700C>T	CCDS2482.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	0	0	1		18	24	2	1		1	1	92		92	91	1	2.060000	-16.502390	1	0.170000				37	37		447	438	0		1	1		1	0	92	0		9.967837e-01	9.996872e-01	0	82	0	636	0	37	447
ARMC9	80210	broad.mit.edu	37	2	232104717	232104717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232104717G>A	ENST00000349938.4	+	9	1036	c.842G>A	c.(841-843)aGc>aAc	p.S281N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	281						extracellular vesicular exosome (GO:0070062)				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)		ATGCGGCAGAGCCTGGCGCAT	0.557																																						ENST00000349938.4	1.000000	0.180000	8.000000e-01	3.100000e-01	0.490000	0.543657	0.490000	0.430000																										0				22						c.(841-843)aGc>aAc		armadillo repeat containing 9							78.0	61.0	67.0					2																	232104717		2203	4300	6503	SO:0001583	missense	80210	13	121410	40				g.chr2:232104717G>A	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.842G>A	chr2.hg19:g.232104717G>A	ENSP00000258417:p.Ser281Asn	1					ARMC9_ENST00000483477.1_3'UTR	p.S281N	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	1	2	3	2.111737	Q7Z3E5	ARMC9_HUMAN		9	1036	+		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)	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	0	1	hg19	c.842G>A	CCDS2484.1	0	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338376	0.60963	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.19806	2.12	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.45581	1.43	0.47862	D	0.999537	P	0.49090	0.919	P	0.48704	0.587	T	0.01238	-1.1409	10	0.25106	T	0.35	-6.727	13.8461	0.63468	0.0:0.1525:0.8475:0.0	.	281	Q7Z3E5	ARMC9_HUMAN	N	281;281;35	ENSP00000258417:S281N	ENSP00000258417:S281N	S	+	2	0	0	ARMC9	231812961	231812961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.309000	0.77851	0.561000	0.74099	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	0	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-7.662131	1	0.170000	NM_025139			5	5		141	141	0		1	1		0	0	28	0		9.386392e-01	8.283594e-01	0	2	0	91	0	5	141
B3GNT7	93010	broad.mit.edu	37	2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			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)		CGACATCCTGCAGTGGGGCTT	0.602																																						ENST00000287590.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(613-615)Cag>Tag		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							84.0	94.0	91.0					2																	232263043		2138	4241	6379	SO:0001587	stop_gained	93010	0	0					g.chr2:232263043C>T	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.613C>T	chr2.hg19:g.232263043C>T	ENSP00000287590:p.Gln205*	1						p.Q205*	NM_145236.2	NP_660279.1	1	2	3	2.111737	Q8NFL0	B3GN7_HUMAN		2	874	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	B3KWY4|B7WNP0	Nonsense_Mutation	SNP	ENST00000287590.5	0	1	hg19	c.613C>T	CCDS46540.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.822400	0.97865	.	.	ENSG00000156966	ENST00000287590	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.7321	0.88380	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000287590:Q205X	Q	+	1	0	0	B3GNT7	231971287	231971287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.431000	0.82371	0.655000	0.94253	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_145236			186	180		459	449	0		1	1		0	0	122	0		1	1	0	44	0	30	0	186	459
NMUR1	10316	broad.mit.edu	37	2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	276					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GACCTGGCTGCTGCAGAGCCC	0.637																																						ENST00000305141.4	1.000000	0.320000	8.400000e-01	4.400000e-01	0.600000	0.635874	0.600000	0.550000																										0				24						c.(826-828)Gca>Tca		neuromedin U receptor 1							43.0	42.0	42.0					2																	232392906		2203	4300	6503	SO:0001583	missense	10316	0	0					g.chr2:232392906C>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.826G>T	chr2.hg19:g.232392906C>A	ENSP00000305877:p.Ala276Ser	1						p.A276S	NM_006056.4	NP_006047.3	1	2	3	2.111737	Q9HB89	NMUR1_HUMAN		2	959	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	1	1	hg19	c.826G>T	CCDS2486.1	0	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489353	0.04352	.	.	ENSG00000171596	ENST00000305141	T	0.34859	1.34	2.43	-2.21	0.06973	2.43	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	485.990000	0.01751	U	0.029957	T	0.19927	0.0479	N	0.25992	0.78	0.09310	N	1	B	0.31949	0.348	B	0.27380	0.079	T	0.05632	-1.0873	10	0.09084	T	0.74	.	3.722	0.08460	0.0:0.2798:0.4085:0.3117	.	276	Q9HB89	NMUR1_HUMAN	S	276	ENSP00000305877:A276S	ENSP00000305877:A276S	A	-	1	0	0	NMUR1	232101150	232101150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	-0.320000	0.08640	-0.390000	0.06520	GCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-13.948290	1	0.170000	NM_006056			12	12		256	255	0		1	0		0	0	34	0		9.991561e-01	4.343595e-02	0	0	0	7	0	12	256
C2orf57	165100	broad.mit.edu	37	2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577																																						ENST00000313965.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(619-621)gCt>gAt		chromosome 2 open reading frame 57							144.0	140.0	142.0					2																	232458282		2203	4300	6503	SO:0001583	missense	165100	0	0					g.chr2:232458282C>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.620C>A	chr2.hg19:g.232458282C>A	ENSP00000315557:p.Ala207Asp	1						p.A207D	NM_152614.2	NP_689827.2	1	2	3	2.111737	Q53QW1	CB057_HUMAN		1	708	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	1	1	hg19	c.620C>A	CCDS2487.1	1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.185264	0.38609	.	.	ENSG00000177673	ENST00000313965	T	0.20069	2.1	3.96	-1.64	0.08318	3.96	-1.64	0.08318	.	2.133630	0.02561	N	0.096744	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.07046	-1.0793	10	0.62326	D	0.03	.	0.3447	0.00339	0.2795:0.2725:0.2342:0.2138	.	207	Q53QW1	CB057_HUMAN	D	207	ENSP00000315557:A207D	ENSP00000315557:A207D	A	+	2	0	0	C2orf57	232166526	232166526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.142000	0.16096	-0.509000	0.06532	0.563000	0.77884	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_152614			186	182		392	384	1		1			0	0	121	0		1	0	0	0	0	0	0	186	392
ALPP	250	broad.mit.edu	37	2	233244473	233244473	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental						dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;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)		GACACCCTTAGGGAAGTCAGT	0.617																																						ENST00000392027.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.e5-1		alkaline phosphatase, placental							56.0	55.0	55.0					2																	233244473		2203	4300	6503	SO:0001630	splice_region_variant	250	0	0					g.chr2:233244473G>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.485-1G>T	chr2.hg19:g.233244473G>T		1					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA		NM_001632.3	NP_001623.3	1	2	3	2.111737	P05187	PPB1_HUMAN		5	753	+		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)	P05188|P06861|Q53S78|Q96DB7	Splice_Site	SNP	ENST00000392027.2	1	1	hg19		CCDS2490.1	1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017697	0.19355	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ALPP	232952717	232952717	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	5.970000	0.70431	1.289000	0.44618	0.298000	0.19748	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_001632	Intron		58	58		175	173	1		1	1		0	0	46	0		1	1.586318e-01	0	2	0	1	0	58	175
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;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)		CCAGGACATCGCTACGCAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.001					ENST00000392027.2	1.000000	0.380000	7.700000e-01	4.700000e-01	0.590000	0.629894	0.590000	0.580000																										0				22						c.(625-627)Gct>Act		alkaline phosphatase, placental							69.0	70.0	70.0					2																	233244614		2203	4299	6502	SO:0001583	missense	250	0	0					g.chr2:233244614G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.625G>A	chr2.hg19:g.233244614G>A	ENSP00000375881:p.Ala209Thr	1					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.A209T	NM_001632.3	NP_001623.3	1	2	3	2.111737	P05187	PPB1_HUMAN		5	894	+		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)	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	1	1	hg19	c.625G>A	CCDS2490.1	0	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	0	ALPP	232952858	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-3.211232	1	0.170000	NM_001632			23	23		483	477	0		1	0		0	0	101	0		9.999993e-01	0	0	0	0	1	0	23	483
ALPPL2	251	broad.mit.edu	37	2	233274394	233274394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	ENST00000295453.3	+	11	1463	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	471					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			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)	GGTTCACGGCGTGCAGGAGCA	0.721																																						ENST00000295453.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1411-1413)Gtg>Atg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)						16.0	19.0	18.0					2																	233274394		2190	4277	6467	SO:0001583	missense	251	0	0					g.chr2:233274394G>A	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.1411G>A	chr2.hg19:g.233274394G>A	ENSP00000295453:p.Val471Met	1						p.V471M	NM_031313.2	NP_112603.2	1	2	3	2.111737	P10696	PPBN_HUMAN		11	1463	+		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)	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	0	1	hg19	c.1411G>A	CCDS2491.1	1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937348	0.52972	.	.	ENSG00000163286	ENST00000295453	D	0.96334	-3.98	2.54	2.54	0.30619	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.88241	2.94	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	12.4169	0.55498	0.0:0.0:1.0:0.0	.	471	P10696	PPBN_HUMAN	M	471	ENSP00000295453:V471M	ENSP00000295453:V471M	V	+	1	0	0	ALPPL2	232982638	232982638	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	6.982000	0.76173	1.410000	0.46936	0.205000	0.17691	GTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	0	0	0		2	2	2	0		0	0	20		20	24	1	2.060000	-20.000000	1	0.170000	NM_031313			33	25		124	108	0		1	0		0	0	20	0		1	4.677673e-02	0	1	0	1	0	33	124
ALPPL2	251	broad.mit.edu	37	2	233274417	233274417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			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)	CCTTCATAGCGCACGTCATGG	0.751																																						ENST00000295453.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1432-1434)gcG>gcA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)						15.0	18.0	17.0					2																	233274417		2184	4280	6464	SO:0001819	synonymous_variant	251	0	0					g.chr2:233274417G>A	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.1434G>A	chr2.hg19:g.233274417G>A		1						p.A478A	NM_031313.2	NP_112603.2	1	2	3	2.111737	P10696	PPBN_HUMAN		11	1486	+		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)	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	0	1	hg19	c.1434G>A	CCDS2491.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	1	0	0		2	2	2	0		0	0	24		24	28	1	2.060000	-20.000000	1	0.170000	NM_031313			44	35		135	123	0		1	0		0	0	24	0		1	0	0	1	0	0	0	44	135
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			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)	CATGGCCTTCGCCGCCTGCCT	0.751																																						ENST00000295453.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1450-1452)Gcc>Acc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)						13.0	16.0	15.0					2																	233274433		2183	4267	6450	SO:0001583	missense	251	0	0					g.chr2:233274433G>A	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.1450G>A	chr2.hg19:g.233274433G>A	ENSP00000295453:p.Ala484Thr	1						p.A484T	NM_031313.2	NP_112603.2	1	2	3	2.111737	P10696	PPBN_HUMAN		11	1502	+		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)	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	0	1	hg19	c.1450G>A	CCDS2491.1	1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	0	ALPPL2	232982677	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	1	0	0		2	2	2	0		0	0	20		20	23	1	2.060000	-20.000000	1	0.170000	NM_031313			46	39		118	113	0		1			0	0	20	0		1	0	0	0	0	0	0	46	118
ALPI	248	broad.mit.edu	37	2	233321075	233321075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	28					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622																																						ENST00000295463.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(82-84)ccG>ccA		alkaline phosphatase, intestinal							64.0	69.0	67.0					2																	233321075		2203	4300	6503	SO:0001819	synonymous_variant	248	3	121412	36				g.chr2:233321075G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.84G>A	chr2.hg19:g.233321075G>A		1						p.P28P	NM_001631.3	NP_001622.2	1	2	3	2.111737	P09923	PPBI_HUMAN		2	161	+		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)	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	1	1	hg19	c.84G>A	CCDS2492.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000	NM_001631			65	63		344	341	1		1	0		0	0	89	0		1	2.611438e-02	0	1	0	1	0	65	344
ALPI	248	broad.mit.edu	37	2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	70					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627																																						ENST00000295463.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				24						c.(208-210)gCc>gTc		alkaline phosphatase, intestinal							37.0	39.0	38.0					2																	233321314		2203	4299	6502	SO:0001583	missense	248	0	0					g.chr2:233321314C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.209C>T	chr2.hg19:g.233321314C>T	ENSP00000295463:p.Ala70Val	1						p.A70V	NM_001631.3	NP_001622.2	1	2	3	2.111737	P09923	PPBI_HUMAN		3	286	+		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)	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	1	1	hg19	c.209C>T	CCDS2492.1	1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111299	0.77210	.	.	ENSG00000163295	ENST00000295463	D	0.97772	-4.53	5.7	5.7	0.88788	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108147	0.64402	D	0.000007	D	0.99184	0.9717	H	0.95745	3.715	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	70	P09923	PPBI_HUMAN	V	70	ENSP00000295463:A70V	ENSP00000295463:A70V	A	+	2	0	0	ALPI	233029558	233029558	1.000000	0.71417	0.758000	0.31321	0.178000	0.23041	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_001631			26	26		145	143	1		1	0		0	0	28	0		1	1.195211e-01	0	0	0	4	0	26	145
ALPI	248	broad.mit.edu	37	2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	185					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607																																						ENST00000295463.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(553-555)cGc>cAc		alkaline phosphatase, intestinal							86.0	85.0	85.0					2																	233321938		2203	4300	6503	SO:0001583	missense	248	6	121412	37				g.chr2:233321938G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.554G>A	chr2.hg19:g.233321938G>A	ENSP00000295463:p.Arg185His	1						p.R185H	NM_001631.3	NP_001622.2	1	2	3	2.111737	P09923	PPBI_HUMAN		5	631	+		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)	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	1	1	hg19	c.554G>A	CCDS2492.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013703	0.93404	.	.	ENSG00000163295	ENST00000295463	D	0.98876	-5.2	5.5	5.5	0.81552	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99884	4.89	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.97130	0.9817	10	0.87932	D	0	.	18.7561	0.91833	0.0:0.0:1.0:0.0	.	185	P09923	PPBI_HUMAN	H	185	ENSP00000295463:R185H	ENSP00000295463:R185H	R	+	2	0	0	ALPI	233030182	233030182	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.552000	0.82192	2.757000	0.94681	0.561000	0.74099	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-3.081704	1	0.170000	NM_001631			101	100		513	499	1		1	0		0	0	126	0		1	2.609486e-01	0	1	0	5	0	101	513
ECEL1	9427	broad.mit.edu	37	2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	625					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)			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)		GAGCGGTCATACTGGCCCCCT	0.647																																						ENST00000304546.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1873-1875)Tat>Cat		endothelin converting enzyme-like 1							54.0	52.0	52.0					2																	233346332		2203	4300	6503	SO:0001583	missense	9427	0	0					g.chr2:233346332A>G	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.1873T>C	chr2.hg19:g.233346332A>G	ENSP00000302051:p.Tyr625His	1					ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	p.Y625H	NM_004826.2	NP_004817.2	1	2	3	2.111737	O95672	ECEL1_HUMAN		14	2083	-		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)	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	1	1	hg19	c.1873T>C	CCDS2493.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992763	0.74703	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.84070	-1.8;-1.8;-1.8	5.48	4.29	0.51040	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061993	0.64402	D	0.000002	D	0.92355	0.7574	M	0.92317	3.295	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.75020	0.931;0.985	D	0.93309	0.6683	10	0.87932	D	0	0.4595	12.7306	0.57195	0.8626:0.1374:0.0:0.0	.	623;625	O95672-2;O95672	.;ECEL1_HUMAN	H	40;625;623	ENSP00000412683:Y40H;ENSP00000302051:Y625H;ENSP00000386333:Y623H	ENSP00000302051:Y625H	Y	-	1	0	0	ECEL1	233054576	233054576	1.000000	0.71417	0.904000	0.35570	0.965000	0.64279	7.440000	0.80464	0.988000	0.38734	0.456000	0.33151	TAT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	0	0	1		23	3	2	1		1	1	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_004826			52	51		228	223	0		1	0		1	0	36	0		9.998694e-01	6.771224e-01	0	0	0	18	0	52	228
ECEL1	9427	broad.mit.edu	37	2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	619					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)			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)		CCCCAGTCGTCGTAGCCGTGG	0.667																																						ENST00000304546.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1855-1857)Gac>Aac		endothelin converting enzyme-like 1							83.0	76.0	78.0					2																	233346501		2203	4300	6503	SO:0001583	missense	9427	1	121410	39				g.chr2:233346501C>T	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.1855G>A	chr2.hg19:g.233346501C>T	ENSP00000302051:p.Asp619Asn	1					ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	p.D619N	NM_004826.2	NP_004817.2	1	2	3	2.111737	O95672	ECEL1_HUMAN		13	2065	-		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)	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	1	1	hg19	c.1855G>A	CCDS2493.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.304761	0.95601	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.89939	-2.59;-2.59;-2.59	5.54	5.54	0.83059	5.54	5.54	0.83059	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.049237	0.85682	D	0.000000	D	0.97216	0.9090	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.98643	1.0676	10	0.87932	D	0	-5.4806	19.5428	0.95281	0.0:1.0:0.0:0.0	.	617;619	O95672-2;O95672	.;ECEL1_HUMAN	N	34;619;617	ENSP00000412683:D34N;ENSP00000302051:D619N;ENSP00000386333:D617N	ENSP00000302051:D619N	D	-	1	0	0	ECEL1	233054745	233054745	1.000000	0.71417	0.921000	0.36526	0.925000	0.55904	7.704000	0.84595	2.615000	0.88500	0.558000	0.71614	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_004826			130	128		423	410	1		1	1		0	0	86	0		1	9.717518e-01	0	4	0	17	0	130	423
ECEL1	9427	broad.mit.edu	37	2	233349192	233349192	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233349192T>C	ENST00000304546.1	-	6	1384	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	392					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)			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)		CGGTGGGGTGTGGAGCGGATG	0.587																																						ENST00000304546.1	1.000000	0.090000	2.500000e-01	1.200000e-01	0.170000	0.252040	0.170000	0.170000																										0				23						c.(1174-1176)Aca>Gca		endothelin converting enzyme-like 1							110.0	108.0	109.0					2																	233349192		2203	4300	6503	SO:0001583	missense	9427	0	0					g.chr2:233349192T>C	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.1174A>G	chr2.hg19:g.233349192T>C	ENSP00000302051:p.Thr392Ala	1					ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	p.T392A	NM_004826.2	NP_004817.2	1	2	3	2.111737	O95672	ECEL1_HUMAN		6	1384	-		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)	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	0	1	hg19	c.1174A>G	CCDS2493.1	0	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613340	0.66672	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.77750	-1.12;-1.12	5.73	4.55	0.56014	5.73	4.55	0.56014	Peptidase M13 (1);	0.210096	0.48767	N	0.000178	D	0.83769	0.5326	M	0.76727	2.345	0.58432	D	0.999999	D;B	0.58268	0.982;0.271	P;B	0.55087	0.768;0.207	D	0.84668	0.0710	10	0.59425	D	0.04	-11.6338	13.0361	0.58873	0.0:0.0:0.1346:0.8654	.	392;392	O95672-2;O95672	.;ECEL1_HUMAN	A	392	ENSP00000302051:T392A;ENSP00000386333:T392A	ENSP00000302051:T392A	T	-	1	0	0	ECEL1	233057436	233057436	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.327000	0.65881	0.980000	0.38523	0.456000	0.33151	ACA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	0	0	0		2	2	2	0		0	0	163		163	162	1	2.060000	-8.342064	1	0.170000	NM_004826			13	14		971	946	0		1	0		0	0	163	0		9.994451e-01	5.663021e-03	0	0	0	8	0	13	971
CHRND	1144	broad.mit.edu	37	2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T	rs376642208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L|CHRND_ENST00000543200.1_Missense_Mutation_p.R229C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|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 binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CATCATCCGCCGCAAGCCCCT	0.612																																						ENST00000258385.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(730-732)Cgc>Tgc		cholinergic receptor, nicotinic, delta (muscle)	Galantamine(DB00674)	C	CYS/ARG	0,4406		0,0,2203	175.0	144.0	155.0		730	4.3	1.0	2		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRND	NM_000751.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/518	233394759	1,13005	2203	4300	6503	SO:0001583	missense	1144	2	121412	39				g.chr2:233394759C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.730C>T	chr2.hg19:g.233394759C>T	ENSP00000258385:p.Arg244Cys	1					CHRND_ENST00000536614.1_Missense_Mutation_p.P207L|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R229C	p.R244C	NM_000751.2	NP_000742.1	1	2	3	2.111737	Q07001	ACHD_HUMAN		7	762	+		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)	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	1	1	hg19	c.730C>T	CCDS2494.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940607|3.940607	0.73557|0.73557	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|D;D	0.75050|0.96830	-0.9|-4.14;-4.14	5.18|5.18	4.26|4.26	0.50523|0.50523	5.18|5.18	4.26|4.26	0.50523|0.50523	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.048932	.|0.85682	.|D	.|0.000000	D|D	0.98896|0.98896	0.9626|0.9626	H|H	0.98577|0.98577	4.27|4.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98858|0.98858	1.0761|1.0761	7|10	0.56958|0.87932	D|D	0.05|0	.|.	15.7298|15.7298	0.77792|0.77792	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	.|229;244;244	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	L|C	207|229;244	ENSP00000437740:P207L|ENSP00000438380:R229C;ENSP00000258385:R244C	ENSP00000408819:P207L|ENSP00000258385:R244C	P|R	+|+	2|1	0|0	0|0	CHRND|CHRND	233103003|233103003	233103003|233103003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.975000|1.975000	0.40569|0.40569	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CCG|CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2	1	0	1		2	2	2	0		0	0	99		99	93	1	2.060000	-2.997085	1	0.170000				131	129		539	509	1		1			0	0	99	0		1	0	0	0	0	0	0	131	539
KCNJ13	3769	broad.mit.edu	37	2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000233826.3	-	2	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	41					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			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)		GCATCTCGAAGATATGCAAGA	0.483																																						ENST00000233826.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(121-123)Ctt>Ttt		potassium inwardly-rectifying channel, subfamily J, member 13							161.0	143.0	149.0					2																	233635952		2203	4300	6503	SO:0001583	missense	3769	0	0					g.chr2:233635952G>A	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.121C>T	chr2.hg19:g.233635952G>A	ENSP00000233826:p.Leu41Phe	1					KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron	p.L41F	NM_002242.4	NP_002233.2	1	2	3	2.111737	O60928	KCJ13_HUMAN		2	260	-		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)	A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	1	1	hg19	c.121C>T	CCDS2498.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589267|3.589267	0.66105|0.66105	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.54|5.54	4.66|4.66	0.58398|0.58398	5.54|5.54	4.66|4.66	0.58398|0.58398	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.75020|.	0.985;0.88|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	14.3369|14.3369	0.66598|0.66598	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	41;41|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	F|F	41|8	ENSP00000233826:L41F;ENSP00000386408:L41F;ENSP00000386251:L41F|.	ENSP00000233826:L41F|.	L|S	-|-	1|2	0|0	0|0	KCNJ13|KCNJ13	233344196|233344196	233344196|233344196	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	4.747000|4.747000	0.62141|0.62141	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CTT|TCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_002242			93	93		279	272	1		1			0	0	50	0		1	0	0	0	0	0	0	93	279
GIGYF2	26058	broad.mit.edu	37	2	233715097	233715097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000409547.1	+	30	4121	c.3810C>T	c.(3808-3810)gtC>gtT	p.V1270V	GIGYF2_ENST00000373563.4_Silent_p.V1270V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000409451.3_Silent_p.V1291V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1270					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)			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)		AGAAGATGGTCCGAGCAGATC	0.458																																						ENST00000409547.1	1.000000	0.230000	6.700000e-01	3.300000e-01	0.460000	0.510981	0.460000	0.430000																										0				63						c.(3808-3810)gtC>gtT		GRB10 interacting GYF protein 2							155.0	134.0	141.0					2																	233715097		2203	4300	6503	SO:0001819	synonymous_variant	26058	0	0					g.chr2:233715097C>T	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.3810C>T	chr2.hg19:g.233715097C>T		1					GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	p.V1270V	NM_015575.3	NP_056390.2	1	2	3	2.111737	Q6Y7W6	PERQ2_HUMAN		30	4121	+		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)	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	1	1	hg19	c.3810C>T	CCDS33401.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.778053	1	0.170000	NM_001103146			10	10		285	279	0		1	1		0	0	35	0		9.966863e-01	9.665277e-01	0	7	0	162	0	10	285
INPP5D	3635	broad.mit.edu	37	2	234085994	234085994	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.e20+2		inositol polyphosphate-5-phosphatase, 145kDa							135.0	134.0	134.0					2																	234085994		2028	4194	6222	SO:0001630	splice_region_variant	3635	0	0					g.chr2:234085994T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2035+2T>C	chr2.hg19:g.234085994T>C		1					INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000450745.1_Splice_Site				1	2	3	2.111737	Q92835	SHIP1_HUMAN		20	2035	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Splice_Site	SNP	ENST00000359570.5	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894186	0.52121	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	INPP5D	233750733	233750733	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	7.652000	0.83633	1.930000	0.55929	0.374000	0.22700	.	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_001017915	Intron		112	111		331	325	1		1			0	0	91	0		1	0	0	0	0	0	0	112	331
DGKD	8527	broad.mit.edu	37	2	234299129	234299129	+	Splice_Site	SNP	G	G	A	rs200443109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	116	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)	ACAGTTTTACGGTAAGATTCC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20693	0.0		0.0	False		,,,				2504	0.0					ENST00000264057.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(346-348)acG>acA		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)	G	,	1,4405	2.1+/-5.4	0,1,2202	171.0	155.0	161.0		216,348	3.8	1.0	2		161	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DGKD	NM_003648.2,NM_152879.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	72/1171,116/1215	234299129	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8527	4	121412	38				g.chr2:234299129G>A	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.348+1G>A	chr2.hg19:g.234299129G>A		1					AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	p.T116T	NM_152879.2	NP_690618.2	1	2	3	2.111737	Q16760	DGKD_HUMAN		3	360	+		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)	Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	1	0	hg19	c.348G>A	CCDS2504.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-4.662620	1	0.170000	NM_003648	Silent		64	64		183	180	1		1	1		0	0	45	0		1	9.932036e-01	0	3	0	22	0	64	183
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					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)			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)	CTGTTCCCACGCGAGGCCGAC	0.562																																						ENST00000264057.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(514-516)Gcg>Acg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						190.0	165.0	174.0					2																	234343475		2203	4300	6503	SO:0001583	missense	8527	1	121412	31				g.chr2:234343475G>A	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.514G>A	chr2.hg19:g.234343475G>A	ENSP00000264057:p.Ala172Thr	1					DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	p.A172T	NM_152879.2	NP_690618.2	1	2	3	2.111737	Q16760	DGKD_HUMAN		5	526	+		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)	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	1	1	hg19	c.514G>A	CCDS2504.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017608	0.93404	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.92805	-3.11;-3.11;1.52;-3.11	4.92	4.92	0.64577	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.075139	0.53938	D	0.000043	D	0.92215	0.7531	N	0.12961	0.28	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.878	D;D;D;B	0.83275	0.969;0.989;0.996;0.288	D	0.92313	0.5859	10	0.39692	T	0.17	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	56;108;128;172	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	T	172;108;142;128	ENSP00000264057:A172T;ENSP00000407938:A108T;ENSP00000395530:A142T;ENSP00000386455:A128T	ENSP00000264057:A172T	A	+	1	0	0	DGKD	234008214	234008214	1.000000	0.71417	0.915000	0.36163	0.909000	0.53808	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	1	0	1		2	2	2	0		0	0	162		162	161	1	2.060000	-20.000000	1	0.170000	NM_003648			229	223		626	615	1		1	1		0	0	162	0		1	9.999666e-01	0	22	0	21	0	229	626
USP40	55230	broad.mit.edu	37	2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000427112.2	-	22	2717	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000251722.6_Nonsense_Mutation_p.C894*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	894					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353																																						ENST00000427112.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2680-2682)tgC>tgA		ubiquitin specific peptidase 40							76.0	70.0	72.0					2																	234407224		1866	4093	5959	SO:0001587	stop_gained	55230	0	0					g.chr2:234407224G>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2682C>A	chr2.hg19:g.234407224G>T	ENSP00000387898:p.Cys894*	1					USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000251722.6_Nonsense_Mutation_p.C894*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*	p.C894*			1	2	3	2.111737	Q9NVE5	UBP40_HUMAN		22	2717	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	0	1	hg19	c.2682C>A	CCDS46547.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.785296|7.785296	0.98489|0.98489	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|.	.|.	.|.	5.14|5.14	1.29|1.29	0.21616|0.21616	5.14|5.14	1.29|1.29	0.21616|0.21616	.|.	.|0.120079	.|0.85682	.|D	.|0.000000	T|.	0.17152|.	0.0412|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	8.245|8.245	0.31682|0.31682	0.3141:0.0:0.6859:0.0|0.3141:0.0:0.6859:0.0	.|.	.|.	.|.	.|.	D|X	70|906;894;894;70	.|.	.|ENSP00000251722:C894X	A|C	-|-	2|3	0|2	0|2	USP40|USP40	234071963|234071963	234071963|234071963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.069000|1.069000	0.30641|0.30641	0.273000|0.273000	0.22049|0.22049	0.555000|0.555000	0.69702|0.69702	GCT|TGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	XM_114294			36	35		111	110	1		1	1		0	0	39	0		1	9.999306e-01	0	4	0	46	0	36	111
USP40	55230	broad.mit.edu	37	2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000427112.2	-	12	1711	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000251722.6_Missense_Mutation_p.F559C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	559					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433																																						ENST00000427112.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1675-1677)tTt>tGt		ubiquitin specific peptidase 40							83.0	78.0	79.0					2																	234436099		1857	4102	5959	SO:0001583	missense	55230	0	0					g.chr2:234436099A>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1676T>G	chr2.hg19:g.234436099A>C	ENSP00000387898:p.Phe559Cys	1					USP40_ENST00000251722.6_Missense_Mutation_p.F559C|USP40_ENST00000450966.1_Missense_Mutation_p.F571C	p.F559C			1	2	3	2.111737	Q9NVE5	UBP40_HUMAN		12	1711	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	1	1	hg19	c.1676T>G	CCDS46547.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086059	0.76642	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.06068	3.35;3.36;3.36	4.96	3.75	0.43078	4.96	3.75	0.43078	.	1.937410	0.01882	N	0.037909	T	0.25344	0.0616	M	0.62723	1.935	0.42061	D	0.991161	D;D	0.76494	0.999;0.999	P;D	0.66716	0.885;0.946	T	0.00009	-1.2467	10	0.87932	D	0	.	10.947	0.47306	0.8595:0.0:0.0:0.1405	.	559;571	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	571;559;559	ENSP00000415434:F571C;ENSP00000251722:F559C;ENSP00000387898:F559C	ENSP00000251722:F559C	F	-	2	0	0	USP40	234100838	234100838	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.814000	0.69208	0.788000	0.33755	0.482000	0.46254	TTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	XM_114294			55	55		157	156	1		1	1		0	0	41	0		1	9.999670e-01	0	3	0	45	0	55	157
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T	rs200115254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	80					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463													-|||	1	0.000199681	0.0	0.0014	5008	,	,		20350	0.0		0.0	False		,,,				2504	0.0					ENST00000373450.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.S78*(1)	ovary(1)	30						c.(232-234)tCa>tTa		UDP glucuronosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)						133.0	124.0	127.0					2																	234526586		2203	4300	6503	SO:0001583	missense	54658	1	121412	34				g.chr2:234526586C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>T	chr2.hg19:g.234526586C>T	ENSP00000362549:p.Ser78Leu	1						p.S78L	NM_019076.4	NP_061949.3	1	2	3	2.111737	P22309	UD11_HUMAN		1	296	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	1	0	hg19	c.233C>T	CCDS33402.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.12	1.544877	0.27652	.	.	ENSG00000242366	ENST00000373450	T	0.60797	0.16	3.96	-2.22	0.06952	3.96	-2.22	0.06952	.	.	.	.	.	T	0.52677	0.1749	M	0.71581	2.175	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.013;0.013	T	0.54337	-0.8309	9	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	78;78	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	L	78	ENSP00000362549:S78L	ENSP00000362549:S78L	S	+	2	0	0	UGT1A8	234191325	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	1	0	1		2	2	2	0		0	0	166		166	166	1	2.060000	-3.267582	1	0.170000				138	135		624	613	1		1			0	0	166	0		1	0	0	0	0	0	0	138	624
UGT1A1	54658	broad.mit.edu	37	2	234526745	234526745	+	Missense_Mutation	SNP	G	G	A	rs373133620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526745G>A	ENST00000373450.4	+	1	455	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	134					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.R131Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTAATGACCGAAAATTAGTA	0.358																																						ENST00000373450.4	1.000000	0.700000	1	8.000000e-01	0.900000	0.902471	0.900000	1.000000																										1	Substitution - Missense(1)	p.R131Q(1)	skin(1)	30						c.(391-393)cGa>cAa		UDP glucuronosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	G	GLN/ARG	0,4406		0,0,2203	122.0	131.0	128.0		392	-7.9	0.0	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	UGT1A8	NM_019076.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		131/531	234526745	1,13005	2203	4300	6503	SO:0001583	missense	54658	2	121412	34				g.chr2:234526745G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.392G>A	chr2.hg19:g.234526745G>A	ENSP00000362549:p.Arg131Gln	1						p.R131Q	NM_019076.4	NP_061949.3	1	2	3	2.111737	P22309	UD11_HUMAN		1	455	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	1	0	hg19	c.392G>A	CCDS33402.1	1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540686	0.04053	0.0	1.16E-4	ENSG00000242366	ENST00000373450	T	0.59906	0.23	3.96	-7.92	0.01160	3.96	-7.92	0.01160	.	.	.	.	.	T	0.28333	0.0700	N	0.11756	0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	9	0.28530	T	0.3	.	3.6313	0.08133	0.2058:0.2713:0.3809:0.142	.	131;131	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	Q	131	ENSP00000362549:R131Q	ENSP00000362549:R131Q	R	+	2	0	0	UGT1A8	234191484	234191484	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.510000	0.06328	-2.963000	0.00289	-1.358000	0.01219	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	1	0	0		27	2	2	2		2	2	156		156	156	1	2.060000	-12.485390	1	0.170000				67	67		879	864	0		1			2	0	156	0		9.999923e-01	0	0	0	0	0	0	67	879
UGT1A4	54657	broad.mit.edu	37	2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	159					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTCTGTGGGGCGGTGCTGGCT	0.488																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(475-477)gCg>gTg		UDP glucuronosyltransferase 1 family, polypeptide A4	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	C	,VAL/ALA,,,,,,	3,4403	6.2+/-15.9	0,3,2200	173.0	174.0	173.0		,476,,,,,,	2.5	0.0	2	dbSNP_134	173	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,64,,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,,,	,159/535,,,,,,	234627942	3,13003	2203	4300	6503	SO:0001583	missense	54657	4	121412	43				g.chr2:234627942C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.476C>T	chr2.hg19:g.234627942C>T	ENSP00000362508:p.Ala159Val	1					UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron	p.A159V	NM_007120.2	NP_009051.1	1	2	3	2.111737	P22310	UD14_HUMAN		1	519	+		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)	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	1	1	hg19	c.476C>T	CCDS33405.1	1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452340	0.01080	6.81E-4	0.0	ENSG00000244474	ENST00000373409	T	0.61040	0.14	4.31	2.51	0.30379	4.31	2.51	0.30379	.	.	.	.	.	T	0.31040	0.0784	N	0.04245	-0.25	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.21360	0.004;0.034	T	0.18967	-1.0320	9	0.39692	T	0.17	.	3.9952	0.09554	0.2919:0.4551:0.0:0.253	.	159;159	B8K288;P22310	.;UD14_HUMAN	V	159	ENSP00000362508:A159V	ENSP00000362508:A159V	A	+	2	0	0	UGT1A4	234292681	234292681	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-0.418000	0.07080	0.299000	0.22661	-1.537000	0.00914	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	1	0	1		2	2	2	0		0	0	217		217	218	1	2.060000	-20.000000	1	0.170000	NM_007120			300	296		906	884	1		1			0	0	217	0		1	0	0	0	0	0	0	300	906
TRPM8	79054	broad.mit.edu	37	2	234891813	234891813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	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)			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)	TATTCCGTTCGGTCATCTACG	0.572																																						ENST00000324695.4	1.000000	0.340000	6.600000e-01	4.200000e-01	0.520000	0.562653	0.520000	0.500000																										0				66						c.(2704-2706)tcG>tcA		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						141.0	126.0	131.0					2																	234891813		2203	4300	6503	SO:0001819	synonymous_variant	79054	2	121412	36				g.chr2:234891813G>A	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.2706G>A	chr2.hg19:g.234891813G>A		1					TRPM8_ENST00000433712.2_Silent_p.S480S	p.S902S	NM_024080.4	NP_076985.4	1	2	3	2.111737	Q7Z2W7	TRPM8_HUMAN		20	2746	+		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)	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	1	1	hg19	c.2706G>A	CCDS33407.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-2.550461	1	0.170000	NM_024080			27	27		649	638	0		1	0		0	0	133	0		9.999999e-01	9.971075e-03	0	0	0	4	0	27	649
ARL4C	10123	broad.mit.edu	37	2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	187					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(559-561)aAg>aCg		ADP-ribosylation factor-like 4C							42.0	44.0	43.0					2																	235404671		1972	4153	6125	SO:0001583	missense	10123	0	0					g.chr2:235404671T>G	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.560A>C	chr2.hg19:g.235404671T>G	ENSP00000375057:p.Lys187Thr	1					ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	p.K187T	NM_005737.3	NP_005728.2	1	2	3	2.111737	P56559	ARL4C_HUMAN		1	1026	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	1	1	hg19	c.560A>C	CCDS2512.1	1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557128	0.65425	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.69040	-0.37;-0.35	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.52905	1.665	0.47994	D	0.999565	P;D	0.57899	0.947;0.981	P;D	0.65140	0.727;0.932	T	0.78196	-0.2298	10	0.87932	D	0	-13.7263	12.4319	0.55578	0.0:0.0:0.0:1.0	.	187;187	P56559;Q4A519	ARL4C_HUMAN;.	T	187	ENSP00000375057:K187T;ENSP00000339754:K187T	ENSP00000339754:K187T	K	-	2	0	0	ARL4C	235069410	235069410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.679000	0.50963	0.455000	0.32223	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000				54	54		257	253	1		1	1		0	0	51	0		1	1	0	12	0	182	0	54	257
SH3BP4	23677	broad.mit.edu	37	2	235961352	235961352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	875					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652																																						ENST00000409212.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994298	0.990000	1.000000																										0				44						c.(2623-2625)taC>taT		SH3-domain binding protein 4							36.0	31.0	33.0					2																	235961352		2203	4299	6502	SO:0001819	synonymous_variant	23677	2	121226	22				g.chr2:235961352C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2625C>T	chr2.hg19:g.235961352C>T		1					SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y	p.Y875Y			1	2	3	2.111737	Q9P0V3	SH3B4_HUMAN		5	3132	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	0	1	hg19	c.2625C>T	CCDS2513.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-16.590520	1	0.170000				9	9		56	56	1		1	1		0	0	18	0		9.953389e-01	9.999974e-01	0	35	0	180	0	9	56
AGAP1	116987	broad.mit.edu	37	2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I|AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	82	Small GTPase-like.		S -> G (in an autistic patient). {ECO:0000269|PubMed:15892143}.		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)			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						AACTTGGCCAGCGGCAAGTCT	0.478																																						ENST00000304032.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(244-246)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							95.0	89.0	91.0					2																	236626223		2203	4300	6503	SO:0001583	missense	116987	0	0					g.chr2:236626223G>T	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.245G>T	chr2.hg19:g.236626223G>T	ENSP00000307634:p.Ser82Ile	1					AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I	p.S82I	NM_001037131.2	NP_001032208.1	1	2	3	2.111737	Q9UPQ3	AGAP1_HUMAN		3	825	+			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	1	1	hg19	c.245G>T	CCDS33408.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.182524	0.94885	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.0	5.0	0.66597	5.0	5.0	0.66597	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.62105	-0.6924	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	82;82	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	82;82;82;29;347	ENSP00000387174:S82I;ENSP00000307634:S82I;ENSP00000338378:S82I;ENSP00000385492:S29I;ENSP00000386897:S347I	ENSP00000307634:S82I	S	+	2	0	0	AGAP1	236290962	236290962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.685000	0.98661	2.488000	0.83962	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	1		17	5	2	1		1	1	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_014914			64	63		267	261	1		1	1		1	0	68	0		1	9.891731e-01	0	33	0	25	0	64	267
AGAP1	116987	broad.mit.edu	37	2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	RNU7-127P_ENST00000458845.1_RNA|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						GAGCCAGATCCTGGCCAGCCT	0.612																																						ENST00000304032.8	1.000000	0.750000	1	8.600000e-01	0.990000	0.950317	0.990000	1.000000																										0				41						c.(1762-1764)Ctg>Atg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							77.0	80.0	79.0					2																	236945321		2203	4300	6503	SO:0001583	missense	116987	0	0					g.chr2:236945321C>A	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.1762C>A	chr2.hg19:g.236945321C>A	ENSP00000307634:p.Leu588Met	1					RNU7-127P_ENST00000458845.1_RNA|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M	p.L588M	NM_001037131.2	NP_001032208.1	1	2	3	2.111737	Q9UPQ3	AGAP1_HUMAN		14	2342	+			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	1	1	hg19	c.1762C>A	CCDS33408.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.322237|3.322237	0.60634|0.60634	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21|.	4.75|4.75	3.87|3.87	0.44632|0.44632	4.75|4.75	3.87|3.87	0.44632|0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57533|0.57533	0.2060|0.2060	L|L	0.50333|0.50333	1.59|1.59	0.50467|0.50467	D|D	0.999879|0.999879	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.74674|.	0.984;0.959|.	T|T	0.53542|0.53542	-0.8424|-0.8424	10|5	0.48119|.	T|.	0.1|.	.|.	8.9764|8.9764	0.35939|0.35939	0.0:0.7657:0.0:0.2343|0.0:0.7657:0.0:0.2343	.|.	535;588|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	588;535;800;427|246;140	ENSP00000307634:L588M;ENSP00000338378:L535M;ENSP00000386897:L800M;ENSP00000411824:L427M|.	ENSP00000307634:L588M|.	L|P	+|+	1|2	2|0	2|0	AGAP1|AGAP1	236610060|236610060	236610060|236610060	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.953000|0.953000	0.61014|0.61014	2.640000|2.640000	0.46579|0.46579	1.140000|1.140000	0.42260|0.42260	-0.136000|-0.136000	0.14681|0.14681	CTG|CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-2.744762	1	0.170000	NM_014914			57	57		678	664	1		1	1		0	0	129	0		1	9.694058e-01	0	7	0	61	0	57	678
GBX2	2637	broad.mit.edu	37	2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756																																						ENST00000306318.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				7						c.(511-513)caG>caT		gastrulation brain homeobox 2							10.0	11.0	10.0					2																	237076102		2073	4094	6167	SO:0001583	missense	2637	0	0					g.chr2:237076102C>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.513G>T	chr2.hg19:g.237076102C>A	ENSP00000302251:p.Gln171His	1					GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	p.Q171H	NM_001485.2	NP_001476.2	1	2	3	2.111737	P52951	GBX2_HUMAN		1	910	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	1	1	hg19	c.513G>T	CCDS2515.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376234|1.376234	0.24857|0.24857	.|.	.|.	ENSG00000233611|ENSG00000168505	ENST00000415226|ENST00000306318;ENST00000551105	.|D	.|0.91996	.|-2.95	4.28|4.28	2.41|2.41	0.29592|0.29592	4.28|4.28	2.41|2.41	0.29592|0.29592	.|.	.|0.246616	.|0.34088	.|N	.|0.004272	T|T	0.80423|0.80423	0.4620|0.4620	N|N	0.08118|0.08118	0|0	0.26482|0.26482	N|N	0.975095|0.975095	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.68777|0.68777	-0.5319|-0.5319	5|10	.|0.33940	.|T	.|0.23	-14.2715|-14.2715	7.5684|7.5684	0.27894|0.27894	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	.|171;171	.|F8VY47;P52951	.|.;GBX2_HUMAN	M|H	5|171	.|ENSP00000302251:Q171H	.|ENSP00000302251:Q171H	L|Q	+|-	1|3	2|2	2|2	AC079135.1|GBX2	236740841|236740841	236740841|236740841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	0.786000|0.786000	0.26844|0.26844	0.761000|0.761000	0.33130|0.33130	0.462000|0.462000	0.41574|0.41574	CTG|CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_001485			24	24		117	117	0		1			0	0	17	0		9.999998e-01	0	0	0	0	0	0	24	117
GBX2	2637	broad.mit.edu	37	2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746																																						ENST00000306318.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999928	0.990000	1.000000																										0				7						c.(295-297)Gcg>Acg		gastrulation brain homeobox 2							12.0	17.0	15.0					2																	237076320		2145	4210	6355	SO:0001583	missense	2637	0	0					g.chr2:237076320C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.295G>A	chr2.hg19:g.237076320C>T	ENSP00000302251:p.Ala99Thr	1					GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	p.A99T	NM_001485.2	NP_001476.2	1	2	3	2.111737	P52951	GBX2_HUMAN		1	692	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	1	1	hg19	c.295G>A	CCDS2515.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478753	0.84747	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.92446	-3.04	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	N	0.19112	0.55	0.58432	D	0.999999	D;B	0.76494	0.999;0.024	D;B	0.74023	0.982;0.007	D	0.88360	0.2987	10	0.15952	T	0.53	-13.0501	14.1461	0.65351	0.0:0.8486:0.1513:0.0	.	99;99	F8VY47;P52951	.;GBX2_HUMAN	T	99	ENSP00000302251:A99T	ENSP00000302251:A99T	A	-	1	0	0	GBX2	236741059	236741059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.450000	0.44943	2.176000	0.68965	0.462000	0.41574	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001485			22	22		120	119	0		1			0	0	13	0		9.999993e-01	0	0	0	0	0	0	22	120
IQCA1	79781	broad.mit.edu	37	2	237272537	237272537	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000431676.2_Silent_p.V544V|IQCA1_ENST00000309507.5_Silent_p.V582V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	585							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512																																						ENST00000409907.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1753-1755)gtC>gtA		IQ motif containing with AAA domain 1							171.0	169.0	170.0					2																	237272537		1994	4154	6148	SO:0001819	synonymous_variant	79781	0	0					g.chr2:237272537G>T	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.1755C>A	chr2.hg19:g.237272537G>T		1					IQCA1_ENST00000309507.5_Silent_p.V582V|IQCA1_ENST00000431676.2_Silent_p.V544V	p.V585V	NM_024726.4	NP_079002.3	1	2	3	2.111737	Q86XH1	IQCA1_HUMAN		15	2029	-			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	1	1	hg19	c.1755C>A	CCDS46549.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	1	0	1		2	2	2	0		0	0	73		73	74	1	2.060000	-20.000000	1	0.170000	NM_024726			136	135		385	377	1		1	0		0	0	73	0		1	6.589236e-01	0	0	0	8	0	136	385
IQCA1	79781	broad.mit.edu	37	2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D|IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	24							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383																																						ENST00000409907.3	1.000000	0.430000	1	6.100000e-01	0.860000	0.826553	0.860000	1.000000																										0				26						c.(70-72)gaG>gaT		IQ motif containing with AAA domain 1							53.0	52.0	52.0					2																	237406070		1848	4087	5935	SO:0001583	missense	79781	1	120794	24				g.chr2:237406070C>A	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.72G>T	chr2.hg19:g.237406070C>A	ENSP00000387347:p.Glu24Asp	1					IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D	p.E24D	NM_024726.4	NP_079002.3	1	2	3	2.111737	Q86XH1	IQCA1_HUMAN		2	346	-			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	1	1	hg19	c.72G>T	CCDS46549.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487286|2.487286	0.44249|0.44249	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.95205	.|-3.5;-3.46;-3.64	5.52|5.52	2.71|2.71	0.32032|0.32032	5.52|5.52	2.71|2.71	0.32032|0.32032	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	D|D	0.95802|0.95802	0.8634|0.8634	L|L	0.56280|0.56280	1.765|1.765	0.34624|0.34624	D|D	0.718933|0.718933	.|D;D;D	.|0.89917	.|0.965;1.0;0.965	.|P;D;P	.|0.91635	.|0.523;0.999;0.523	D|D	0.96316|0.96316	0.9232|0.9232	5|10	.|0.56958	.|D	.|0.05	.|.	12.8231|12.8231	0.57704|0.57704	0.0:0.7967:0.0:0.2033|0.0:0.7967:0.0:0.2033	.|.	.|24;31;24	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|D	43|24;31;20;24;20	.|ENSP00000387347:E24D;ENSP00000311951:E20D;ENSP00000407213:E24D	.|ENSP00000254653:E24D	A|E	-|-	1|3	0|2	0|2	IQCA1|IQCA1	237070809|237070809	237070809|237070809	0.356000|0.356000	0.24930|0.24930	0.991000|0.991000	0.47740|0.47740	0.487000|0.487000	0.33371|0.33371	0.131000|0.131000	0.15870|0.15870	0.036000|0.036000	0.15547|0.15547	-0.797000|-0.797000	0.03246|0.03246	GCC|GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-14.020690	1	0.170000	NM_024726			10	10		147	146	0		1	0		0	0	31	0		9.970827e-01	0	0	0	0	1	0	10	147
COPS8	10920	broad.mit.edu	37	2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	71	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408																																						ENST00000354371.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(211-213)cTt>cCt		COP9 signalosome subunit 8							63.0	65.0	64.0					2																	237998518		2203	4300	6503	SO:0001583	missense	10920	0	0					g.chr2:237998518T>C		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.212T>C	chr2.hg19:g.237998518T>C	ENSP00000346340:p.Leu71Pro	1					COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	p.L71P	NM_006710.4	NP_006701.1	1	2	3	2.111737	Q99627	CSN8_HUMAN		4	865	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	1	1	hg19	c.212T>C	CCDS2517.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167928	0.78339	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.063904	0.64402	D	0.000009	T	0.78470	0.4288	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	9	0.87932	D	0	.	14.5789	0.68271	0.0:0.0:0.0:1.0	.	71;71	B8ZZP3;Q99627	.;CSN8_HUMAN	P	71;22;71;71	.	ENSP00000346340:L71P	L	+	2	0	0	COPS8	237663257	237663257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.043000	0.60533	0.528000	0.53228	CTT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_006710			66	62		364	356	1		1	1		0	0	74	0		1	1	0	87	0	348	0	66	364
COL6A3	1293	broad.mit.edu	37	2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2679	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)			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)		AGGTGGCATGCTGGCATTGTC	0.582																																						ENST00000295550.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				217						c.(8035-8037)aGc>aAc		collagen, type VI, alpha 3							85.0	79.0	81.0					2																	238249523		2203	4300	6503	SO:0001583	missense	1293	3	121412	28				g.chr2:238249523C>T	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.8036G>A	chr2.hg19:g.238249523C>T	ENSP00000295550:p.Ser2679Asn	1					COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N	p.S2679N	NM_004369.3	NP_004360.2	1	2	3	2.111737	P12111	CO6A3_HUMAN		38	8488	-		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)	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	1	1	hg19	c.8036G>A	CCDS33412.1	1	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081634	0.08533	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88586	-2.4;-2.39;-2.37;-2.37;-2.37;-2.36	5.16	5.16	0.70880	5.16	5.16	0.70880	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.92821	0.7717	L	0.55481	1.735	0.41280	D	0.986903	D;D;D	0.76494	0.997;0.996;0.999	D;P;D	0.85130	0.939;0.899;0.997	D	0.90740	0.4649	10	0.25106	T	0.35	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2072;2473;2679	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2679;2478;2473;2072;2473;2479	ENSP00000295550:S2679N;ENSP00000315609:S2478N;ENSP00000315873:S2473N;ENSP00000418285:S2072N;ENSP00000386844:S2473N;ENSP00000295546:S2479N	ENSP00000295550:S2679N	S	-	2	0	0	COL6A3	237914262	237914262	0.985000	0.35326	0.653000	0.29593	0.037000	0.13140	2.573000	0.46007	2.536000	0.85505	0.655000	0.94253	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_004369			62	61		289	284	1		1	1		0	0	69	0		1	1	0	2	0	1889	0	62	289
COL6A3	1293	broad.mit.edu	37	2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2507	Nonhelical region.|VWFA 11. {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)			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)		TTCCTCATTAGGAATCCGTTC	0.522																																						ENST00000295550.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				217						c.(7519-7521)Cta>Ata		collagen, type VI, alpha 3							141.0	135.0	137.0					2																	238253142		2203	4300	6503	SO:0001583	missense	1293	0	0					g.chr2:238253142G>T	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.7519C>A	chr2.hg19:g.238253142G>T	ENSP00000295550:p.Leu2507Ile	1					COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I	p.L2507I	NM_004369.3	NP_004360.2	1	2	3	2.111737	P12111	CO6A3_HUMAN		36	7971	-		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)	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	1	1	hg19	c.7519C>A	CCDS33412.1	1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.800919	0.16397	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.87	3.99	0.46301	4.87	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000475	D	0.89312	0.6679	M	0.76574	2.34	0.51482	D	0.999924	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.972;0.936;0.953;0.996	D	0.87282	0.2293	10	0.24483	T	0.36	.	13.4122	0.60948	0.0763:0.0:0.9237:0.0	.	1900;1900;2301;2507	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	I	2507;2306;2301;1900;2301;2307	ENSP00000295550:L2507I;ENSP00000315609:L2306I;ENSP00000315873:L2301I;ENSP00000418285:L1900I;ENSP00000386844:L2301I;ENSP00000295546:L2307I	ENSP00000295550:L2507I	L	-	1	2	2	COL6A3	237917881	237917881	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	6.486000	0.73629	1.171000	0.42768	0.655000	0.94253	CTA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-7.414100	1	0.170000	NM_004369			201	198		582	577	1		1	1		0	0	130	0		1	1	0	2	0	2507	0	201	582
COL6A3	1293	broad.mit.edu	37	2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1199	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		GAGATGACCTGTTGGACGGTC	0.617																																						ENST00000295550.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				217						c.(3595-3597)Cag>Gag		collagen, type VI, alpha 3							72.0	63.0	66.0					2																	238283139		2203	4300	6503	SO:0001583	missense	1293	0	0					g.chr2:238283139G>C	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.3595C>G	chr2.hg19:g.238283139G>C	ENSP00000295550:p.Gln1199Glu	1					COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E	p.Q1199E	NM_004369.3	NP_004360.2	1	2	3	2.111737	P12111	CO6A3_HUMAN		8	4047	-		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)	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	1	1	hg19	c.3595C>G	CCDS33412.1	1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442636	0.43326	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.97	4.97	0.65823	4.97	4.97	0.65823	von Willebrand factor, type A (2);	0.000000	0.49916	D	0.000138	T	0.62245	0.2412	L	0.38649	1.16	0.54753	D	0.999981	D;B;P;D;P	0.55172	0.97;0.107;0.594;0.963;0.592	D;B;P;P;B	0.63877	0.919;0.062;0.547;0.867;0.306	T	0.58047	-0.7705	10	0.30854	T	0.27	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	592;792;993;993;1199	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1199;998;993;592;993;999;993;792	ENSP00000295550:Q1199E;ENSP00000315609:Q998E;ENSP00000315873:Q993E;ENSP00000418285:Q592E;ENSP00000386844:Q993E;ENSP00000295546:Q999E;ENSP00000375861:Q993E;ENSP00000375860:Q792E	ENSP00000295550:Q1199E	Q	-	1	0	0	COL6A3	237947878	237947878	1.000000	0.71417	0.941000	0.38009	0.510000	0.34073	4.218000	0.58554	2.477000	0.83638	0.655000	0.94253	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_004369			91	90		288	282	1		1	0		0	0	73	0		1	1	0	0	0	923	0	91	288
COL6A3	1293	broad.mit.edu	37	2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T	rs372127270		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	925	Nonhelical region.|VWFA 5. {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)			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)		AAAAATGTACCTCTGTGCATA	0.542																																						ENST00000295550.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				217						c.(2773-2775)aGg>aAg		collagen, type VI, alpha 3							86.0	75.0	79.0					2																	238285711		2203	4300	6503	SO:0001583	missense	1293	0	0					g.chr2:238285711C>T	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.2774G>A	chr2.hg19:g.238285711C>T	ENSP00000295550:p.Arg925Lys	1					COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K	p.R925K	NM_004369.3	NP_004360.2	1	2	3	2.111737	P12111	CO6A3_HUMAN		7	3226	-		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)	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	1	1	hg19	c.2774G>A	CCDS33412.1	1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286726	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	4.67	0.58626	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.103753	0.41396	D	0.000884	T	0.82144	0.4973	N	0.25426	0.745	0.19575	N	0.999968	B;P;B;B;P;B	0.50943	0.09;0.94;0.149;0.291;0.866;0.201	B;P;B;P;P;B	0.57548	0.13;0.823;0.314;0.491;0.591;0.13	T	0.73483	-0.3968	10	0.22706	T	0.39	.	14.6055	0.68475	0.0:0.9293:0.0:0.0707	.	725;318;518;719;719;925	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	925;724;719;318;719;725;719;518	ENSP00000295550:R925K;ENSP00000315609:R724K;ENSP00000315873:R719K;ENSP00000418285:R318K;ENSP00000386844:R719K;ENSP00000295546:R725K;ENSP00000375861:R719K;ENSP00000375860:R518K	ENSP00000295550:R925K	R	-	2	0	0	COL6A3	237950450	237950450	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	1.221000	0.32503	1.335000	0.45486	0.655000	0.94253	AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_004369			81	79		372	364	1		1	0		0	0	86	0		1	1	0	1	0	1332	0	81	372
MLPH	79083	broad.mit.edu	37	2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000264605.3	+	10	1409	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	372					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632																																						ENST00000264605.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1114-1116)gCt>gAt		melanophilin							60.0	58.0	59.0					2																	238449001		2203	4300	6503	SO:0001583	missense	79083	0	0					g.chr2:238449001C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1115C>A	chr2.hg19:g.238449001C>A	ENSP00000264605:p.Ala372Asp	1					MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D	p.A372D	NM_024101.5	NP_077006.1	1	2	3	2.111737	Q9BV36	MELPH_HUMAN		10	1409	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	1	1	hg19	c.1115C>A	CCDS2518.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.602683|2.602683|2.602683	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000415753|ENST00000436965	T;T;T;T;T;T|.|.	0.26810|.|.	1.95;2.11;1.95;1.92;1.71;1.87|.|.	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	.|.|.	1.852170|.|.	0.04248|.|.	N|.|.	0.338191|.|.	T|.|T	0.26774|.|0.26774	0.0655|.|0.0655	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;D;D;P;D;P;P;B|.|.	0.57571|.|.	0.158;0.98;0.974;0.839;0.958;0.9;0.883;0.102|.|.	B;P;P;B;P;P;P;B|.|.	0.51657|.|.	0.028;0.601;0.676;0.347;0.587;0.549;0.482;0.037|.|.	T|.|T	0.28586|.|0.28586	-1.0039|.|-1.0039	10|.|5	0.10377|.|.	T|.|.	0.69|.|.	-2.1634|-2.1634|-2.1634	2.0399|2.0399|2.0399	0.03548|0.03548|0.03548	0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891	.|.|.	33;372;228;344;304;344;372;229|.|.	Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.|.	.;.;.;.;.;.;MELPH_HUMAN;.|.|.	D|X|M	229;372;372;344;304;132|59|93	ENSP00000386338:A229D;ENSP00000264605:A372D;ENSP00000414849:A372D;ENSP00000341845:A344D;ENSP00000386780:A304D;ENSP00000412438:A132D|.|.	ENSP00000264605:A372D|.|.	A|C|L	+|+|+	2|3|1	0|2|2	0|2|2	MLPH|MLPH|MLPH	238113740|238113740|238113740	238113740|238113740|238113740	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.003000|0.003000|0.003000	0.03518|0.03518|0.03518	0.487000|0.487000|0.487000	0.22356|0.22356|0.22356	-0.248000|-0.248000|-0.248000	0.09583|0.09583|0.09583	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|TGC|CTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_024101			60	60		149	146	1		1	1		0	0	34	0		1	1	0	293	0	234	0	60	149
LRRFIP1	9208	broad.mit.edu	37	2	238688109	238688109	+	Silent	SNP	C	C	T	rs368929531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	468					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483																																						ENST00000308482.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1855-1857)aaC>aaT		leucine rich repeat (in FLII) interacting protein 1		C	,	0,3136		0,0,1568	71.0	66.0	68.0		1857,1119	-0.1	1.0	2		68	1,7163		0,1,3581	no	coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1	,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	,	619/641,373/395	238688109	1,10299	1568	3582	5150	SO:0001819	synonymous_variant	9208	2	120384	35				g.chr2:238688109C>T	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	ENST00000308482.9:c.1857C>T	chr2.hg19:g.238688109C>T		1						p.N619N	NM_001137550.1	NP_001131022.1	1	2	3	2.111737	Q32MZ4	LRRF1_HUMAN		24	1926	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000308482.9	1	1	hg19	c.1857C>T	CCDS46551.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_004735			46	45		119	119	1		1	1		0	0	53	0		1	1	0	8	0	87	0	46	119
RBM44	375316	broad.mit.edu	37	2	238726960	238726960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000409864.1	+	3	1655	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Silent_p.Q467Q			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	466						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			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)		CAATTAATCAGACAGTGGACG	0.398																																						ENST00000409864.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1399-1401)caG>caA		RNA binding motif protein 44							101.0	94.0	96.0					2																	238726960		1946	4133	6079	SO:0001819	synonymous_variant	375316	0	0					g.chr2:238726960G>A	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.1401G>A	chr2.hg19:g.238726960G>A		1					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Silent_p.Q467Q	p.Q467Q			1	2	3	2.111737	Q6ZP01	RBM44_HUMAN		3	1655	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	A0AUW3	Silent	SNP	ENST00000409864.1	1	1	hg19	c.1401G>A	CCDS46554.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_001080504			78	77		221	217	1		1			0	0	57	0		1	0	0	0	0	0	0	78	221
SCLY	51540	broad.mit.edu	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000555827.1	+	5	617	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000254663.6_Missense_Mutation_p.R193C			Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			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)		CGCGGCAGTCCGCCCGACCAC	0.577																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000555827.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(553-555)Cgc>Tgc		selenocysteine lyase		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	91.0	97.0		577	5.8	1.0	2	dbSNP_134	97	0,8600		0,0,4300	no	missense	SCLY	NM_016510.5	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	193/454	238990418	1,13005	2203	4300	6503	SO:0001583	missense	51540	11	121412	39				g.chr2:238990418C>T	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.553C>T	chr2.hg19:g.238990418C>T	ENSP00000450613:p.Arg185Cys	1					SCLY_ENST00000254663.6_Missense_Mutation_p.R193C|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C	p.R185C			1	2	3	2.111737	Q96I15	SCLY_HUMAN		5	617	+		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)	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	1	1	hg19	c.553C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026472|3.026472	0.54683|0.54683	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.87334	.|1.87;1.87;1.45;-2.24;1.45;1.87;1.45	5.84|5.84	5.84|5.84	0.93424|0.93424	5.84|5.84	5.84|5.84	0.93424|0.93424	.|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|D	0.91078|0.91078	0.7192|0.7192	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45283	.|0.855;0.745;0.833	.|B;B;B	.|0.40410	.|0.188;0.328;0.17	D|D	0.93015|0.93015	0.6435|0.6435	5|10	.|0.87932	.|D	.|0	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	L|C	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193C;ENSP00000450613:R185C;ENSP00000362429:R103C;ENSP00000414165:R99C;ENSP00000387162:R185C;ENSP00000416865:R91C;ENSP00000414053:R15C	.|ENSP00000254663:R185C	P|R	+|+	2|1	0|0	0|0	SCLY|SCLY	238655157|238655157	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-2.904305	1	0.170000	NM_016510			66	66		328	325	1		1	1		0	0	65	0		1	9.997149e-01	0	15	0	47	0	66	328
SCLY	51540	broad.mit.edu	37	2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000555827.1	+	6	741	c.677C>A	c.(676-678)cCt>cAt	p.P226H	SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000254663.6_Missense_Mutation_p.P234H			Q96I15	SCLY_HUMAN	selenocysteine lyase	226					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			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)		GCTGGGCTACCTCCCATCCTC	0.587																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000555827.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(676-678)cCt>cAt		selenocysteine lyase							109.0	98.0	102.0					2																	238990750		2203	4300	6503	SO:0001583	missense	51540	0	0					g.chr2:238990750C>A	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.677C>A	chr2.hg19:g.238990750C>A	ENSP00000450613:p.Pro226His	1					SCLY_ENST00000254663.6_Missense_Mutation_p.P234H|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H	p.P226H			1	2	3	2.111737	Q96I15	SCLY_HUMAN		6	741	+		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)	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	1	1	hg19	c.677C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355000|2.355000	0.41700|0.41700	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;T;T;T;T	.|0.32988	.|1.85;1.85;1.43;1.44;1.87;1.85;1.48	5.38|5.38	5.38|5.38	0.77491|0.77491	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58595|0.58595	0.2133|0.2133	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.99	.|D;D;D	.|0.76575	.|0.983;0.988;0.94	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.62326	.|D	.|0.03	-14.5538|-14.5538	17.9223|17.9223	0.88970|0.88970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|132;226;226	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	I|H	72|234;226;144;140;226;132;56	.|ENSP00000254663:P234H;ENSP00000450613:P226H;ENSP00000362429:P144H;ENSP00000414165:P140H;ENSP00000387162:P226H;ENSP00000416865:P132H;ENSP00000414053:P56H	.|ENSP00000254663:P226H	L|P	+|+	1|2	0|0	0|0	SCLY|SCLY	238655489|238655489	238655489|238655489	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.017000|0.017000	0.09413|0.09413	5.615000|5.615000	0.67702|0.67702	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	CTC|CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-3.248903	1	0.170000	NM_016510			88	88		423	420	1		1	1		0	0	89	0		1	9.989640e-01	0	9	0	42	0	88	423
ESPNL	339768	broad.mit.edu	37	2	239009107	239009107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239009107C>T	ENST00000343063.3	+	1	310	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	16										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGGATGTGGCGACGTTGGAG	0.701																																						ENST00000343063.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993768	0.990000	1.000000																										0				13						c.(46-48)gCg>gTg		espin-like							12.0	17.0	15.0					2																	239009107		2190	4292	6482	SO:0001583	missense	339768	3	120294	30				g.chr2:239009107C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.47C>T	chr2.hg19:g.239009107C>T	ENSP00000339115:p.Ala16Val	1					ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	p.A16V	NM_194312.2	NP_919288.2	1	2	3	2.111737	Q6ZVH7	ESPNL_HUMAN		1	310	+		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)	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	0	1	hg19	c.47C>T	CCDS2525.1	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789962	0.31685	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.65364	-0.05;-0.15	4.37	4.37	0.52481	4.37	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.453640	0.20101	N	0.099224	T	0.52141	0.1716	L	0.45137	1.4	0.42923	D	0.994297	D	0.57571	0.98	P	0.44394	0.448	T	0.49969	-0.8882	10	0.30078	T	0.28	-19.4228	7.7596	0.28944	0.1819:0.6414:0.1767:0.0	.	16	Q6ZVH7	ESPNL_HUMAN	V	16	ENSP00000339115:A16V;ENSP00000386577:A16V	ENSP00000339115:A16V	A	+	2	0	0	ESPNL	238673846	238673846	0.001000	0.12720	0.980000	0.43619	0.037000	0.13140	-0.055000	0.11807	1.988000	0.58038	0.462000	0.41574	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.609060	1	0.170000	NM_194312			12	12		85	82	0		1			0	0	9	0		9.991766e-01	0	0	0	0	0	0	12	85
ESPNL	339768	broad.mit.edu	37	2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642																																						ENST00000343063.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(823-825)Ctc>Ttc		espin-like							37.0	34.0	35.0					2																	239016582		2199	4300	6499	SO:0001583	missense	339768	0	0					g.chr2:239016582C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.823C>T	chr2.hg19:g.239016582C>T	ENSP00000339115:p.Leu275Phe	1					ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	p.L275F	NM_194312.2	NP_919288.2	1	2	3	2.111737	Q6ZVH7	ESPNL_HUMAN		4	1086	+		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)	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	1	1	hg19	c.823C>T	CCDS2525.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388675	0.82902	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;D	0.81996	-1.3;-1.56	5.51	5.51	0.81932	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.49916	U	0.000140	D	0.90933	0.7150	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.91720	0.5388	10	0.72032	D	0.01	-31.9858	16.3304	0.83010	0.0:1.0:0.0:0.0	.	275;275	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	275	ENSP00000339115:L275F;ENSP00000386577:L275F	ENSP00000339115:L275F	L	+	1	0	0	ESPNL	238681321	238681321	1.000000	0.71417	0.317000	0.25265	0.941000	0.58515	5.079000	0.64431	2.580000	0.87095	0.655000	0.94253	CTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_194312			41	41		123	123	1		1			0	0	33	0		1	0	0	0	0	0	0	41	123
ESPNL	339768	broad.mit.edu	37	2	239040166	239040166	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000409506.1_Silent_p.T569T|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.T893T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726																																						ENST00000343063.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2809-2811)acG>acT		espin-like							12.0	15.0	14.0					2																	239040166		2185	4276	6461	SO:0001819	synonymous_variant	339768	0	0					g.chr2:239040166G>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2811G>T	chr2.hg19:g.239040166G>T		1					ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Silent_p.T569T	p.T937T	NM_194312.2	NP_919288.2	1	2	3	2.111737	Q6ZVH7	ESPNL_HUMAN		9	3074	+		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)	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	1	1	hg19	c.2811G>T	CCDS2525.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_194312			34	33		146	145	1		1			0	0	24	0		1	0	0	0	0	0	0	34	146
KLHL30	377007	broad.mit.edu	37	2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	154	BACK.									lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657																																						ENST00000409223.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(460-462)gCc>gAc		kelch-like family member 30							19.0	25.0	23.0					2																	239049856		2140	4245	6385	SO:0001583	missense	377007	0	0					g.chr2:239049856C>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.461C>A	chr2.hg19:g.239049856C>A	ENSP00000386389:p.Ala154Asp	1					KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D	p.A154D			1	2	3	2.111737	Q0D2K2	KLH30_HUMAN		2	568	+		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)	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	1	1	hg19	c.461C>A	CCDS46555.2	1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.027365	0.93518	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73469	-0.75;-0.75	5.65	5.65	0.86999	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.056170	0.64402	D	0.000001	D	0.90147	0.6921	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	10	0.87932	D	0	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	154	Q0D2K2	KLH30_HUMAN	D	154;136	ENSP00000386389:A154D;ENSP00000302386:A136D	ENSP00000302386:A136D	A	+	2	0	0	KLHL30	238714595	238714595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.647000	0.83462	2.671000	0.90904	0.651000	0.88453	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_198582			34	34		157	156	1		1	0		0	0	24	0		1	3.330690e-02	0	1	0	1	0	34	157
KLHL30	377007	broad.mit.edu	37	2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	383										lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657																																						ENST00000409223.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1147-1149)Ggc>Agc		kelch-like family member 30							21.0	29.0	27.0					2																	239054470		2048	4180	6228	SO:0001583	missense	377007	0	0					g.chr2:239054470G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1147G>A	chr2.hg19:g.239054470G>A	ENSP00000386389:p.Gly383Ser	1					KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S	p.G383S			1	2	3	2.111737	Q0D2K2	KLH30_HUMAN		5	1254	+		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)	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	1	1	hg19	c.1147G>A	CCDS46555.2	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838659	0.71373	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.98792	-5.14;-5.14	4.62	4.62	0.57501	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.065440	0.64402	D	0.000010	D	0.99275	0.9747	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	383	Q0D2K2	KLH30_HUMAN	S	383;365	ENSP00000386389:G383S;ENSP00000302386:G365S	ENSP00000302386:G365S	G	+	1	0	0	KLHL30	238719209	238719209	1.000000	0.71417	0.096000	0.21009	0.173000	0.22820	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999580	1	0.170000	NM_198582			25	24		50	50	1		1	0		0	0	13	0		1	2.677955e-01	0	1	0	2	0	25	50
KLHL30	377007	broad.mit.edu	37	2	239056536	239056536	+	Silent	SNP	C	C	T	rs549619998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	404										lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687																																						ENST00000409223.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				4						c.(1210-1212)ccC>ccT		kelch-like family member 30							27.0	31.0	30.0					2																	239056536		1888	4091	5979	SO:0001819	synonymous_variant	377007	2	120378	30				g.chr2:239056536C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1212C>T	chr2.hg19:g.239056536C>T		1					KLHL30_ENST00000305959.4_Silent_p.P386P	p.P404P			1	2	3	2.111737	Q0D2K2	KLH30_HUMAN		6	1319	+		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)	Q6ZUS1	Silent	SNP	ENST00000409223.1	1	1	hg19	c.1212C>T	CCDS46555.2	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.119995	1	0.170000	NM_198582			25	24		134	133	0		1	0		0	0	23	0		9.999999e-01	2.691511e-02	0	0	0	2	0	25	134
KLHL30	377007	broad.mit.edu	37	2	239059487	239059487	+	Silent	SNP	C	C	T	rs545573277	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16906	0.0		0.0	False		,,,				2504	0.0					ENST00000409223.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1516-1518)ggC>ggT		kelch-like family member 30							18.0	24.0	22.0					2																	239059487		2181	4265	6446	SO:0001819	synonymous_variant	377007	2	119890	35				g.chr2:239059487C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1518C>T	chr2.hg19:g.239059487C>T		1					KLHL30_ENST00000305959.4_Silent_p.G488G	p.G506G			1	2	3	2.111737	Q0D2K2	KLH30_HUMAN		8	1625	+		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)	Q6ZUS1	Silent	SNP	ENST00000409223.1	0	1	hg19	c.1518C>T	CCDS46555.2	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_198582			18	17		36	35	1		1	0		0	0	10	0		9.999937e-01	2.709360e-01	0	0	0	3	0	18	36
HES6	55502	broad.mit.edu	37	2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409182.1_Silent_p.T84T|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2			hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672																																						ENST00000409160.3	1.000000	0.740000	1	9.200000e-01	0.990000	0.970351	0.990000	1.000000																										0				2						c.(574-576)Gtg>Atg		hes family bHLH transcription factor 6							28.0	27.0	27.0					2																	239147804		2199	4292	6491	SO:0001583	missense	55502	0	0					g.chr2:239147804C>T	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000409160.3:c.574G>A	chr2.hg19:g.239147804C>T	ENSP00000387215:p.Val192Met	1					AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409182.1_Silent_p.T84T|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	p.V192M	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	1	2	3	2.111737				3	706	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Missense_Mutation	SNP	ENST00000409160.3	1	1	hg19	c.574G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.26|18.26	3.583903|3.583903	0.65992|0.65992	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000409574|ENST00000409160	T|T	0.74421|0.76448	-0.84|-1.02	3.56|3.56	2.56|2.56	0.30785|0.30785	3.56|3.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|T	0.80544|0.80544	0.4643|0.4643	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.57468	.|0.821	T|T	0.80643|0.80643	-0.1291|-0.1291	6|8	0.62326|0.87932	D|D	0.03|0	.|.	5.4746|5.4746	0.16688|0.16688	0.1954:0.5149:0.2897:0.0|0.1954:0.5149:0.2897:0.0	.|.	.|192	.|Q96HZ4-2	.|.	H|M	100|192	ENSP00000387008:R100H|ENSP00000387215:V192M	ENSP00000387008:R100H|ENSP00000387215:V192M	R|V	-|-	2|1	0|0	0|0	HES6|HES6	238812543|238812543	238812543|238812543	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.481000|0.481000	0.22260|0.22260	1.771000|1.771000	0.52183|0.52183	0.290000|0.290000	0.19541|0.19541	CGT|GTG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	HES6-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328359.1	0	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_018645			23	23		238	236	0		1	0		0	0	27	0		9.999995e-01	2.660699e-01	0	0	0	11	0	23	238
PER2	8864	broad.mit.edu	37	2	239159221	239159221	+	Silent	SNP	G	G	A	rs140643763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239159221G>A	ENST00000254657.3	-	21	3717	c.3438C>T	c.(3436-3438)agC>agT	p.S1146S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1146					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCATCATGACGCTGCTGTCCG	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20545	0.0		0.0	False		,,,				2504	0.0					ENST00000254657.3	1.000000	0.210000	9.300000e-01	3.600000e-01	0.570000	0.612241	0.570000	1.000000																										0				37						c.(3436-3438)agC>agT		period circadian clock 2		G		5,4401	11.4+/-27.6	0,5,2198	154.0	123.0	134.0		3438	-6.9	0.0	2	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	PER2	NM_022817.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		1146/1256	239159221	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8864	17	121410	44				g.chr2:239159221G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3438C>T	chr2.hg19:g.239159221G>A		1					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.S1146S	NM_022817.2	NP_073728.1	1	2	3	2.111737	O15055	PER2_HUMAN		21	3717	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	0	1	hg19	c.3438C>T	CCDS2528.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-3.765513	1	0.170000	NM_022817			5	5		120	118	0		1	0		0	0	19	0		9.348216e-01	6.274631e-01	0	0	0	49	0	5	120
PER2	8864	broad.mit.edu	37	2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	959	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAAGCACATGGCTGTCTGGGG	0.667																																						ENST00000254657.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2875-2877)Cca>Aca		period circadian clock 2							48.0	48.0	48.0					2																	239161789		2203	4300	6503	SO:0001583	missense	8864	0	0					g.chr2:239161789G>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2875C>A	chr2.hg19:g.239161789G>T	ENSP00000254657:p.Pro959Thr	1					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.P959T	NM_022817.2	NP_073728.1	1	2	3	2.111737	O15055	PER2_HUMAN		19	3154	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	1	1	hg19	c.2875C>A	CCDS2528.1	1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220607	0.06061	.	.	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.24	2.43	0.29744	4.24	2.43	0.29744	.	3.118280	0.01951	U	0.042658	T	0.20251	0.0487	M	0.75264	2.295	0.09310	N	0.999999	B;B	0.30068	0.267;0.164	B;B	0.28139	0.086;0.06	T	0.26292	-1.0107	10	0.38643	T	0.18	-9.1142	6.8517	0.24018	0.3024:0.0:0.6976:0.0	.	959;959	B4DH14;O15055	.;PER2_HUMAN	T	959	ENSP00000254657:P959T	ENSP00000254657:P959T	P	-	1	0	0	PER2	238826528	238826528	0.035000	0.19736	0.002000	0.10522	0.034000	0.12701	1.910000	0.39927	0.514000	0.28300	-0.126000	0.14955	CCA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_022817			123	120		373	357	1		1	1		0	0	77	0		1	9.999952e-01	0	11	0	45	0	123	373
PER2	8864	broad.mit.edu	37	2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	921	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGCCTGGGGCAGGTTTGGG	0.627																																						ENST00000254657.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2761-2763)Ccc>Tcc		period circadian clock 2							41.0	47.0	45.0					2																	239161903		2203	4300	6503	SO:0001583	missense	8864	0	0					g.chr2:239161903G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2761C>T	chr2.hg19:g.239161903G>A	ENSP00000254657:p.Pro921Ser	1					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.P921S	NM_022817.2	NP_073728.1	1	2	3	2.111737	O15055	PER2_HUMAN		19	3040	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	1	1	hg19	c.2761C>T	CCDS2528.1	1	.	.	.	.	.	.	.	.	.	.	G	5.974	0.363685	0.11296	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	3.89	3.89	0.44902	3.89	3.89	0.44902	.	0.717806	0.10729	U	0.640805	T	0.11153	0.0272	L	0.38838	1.175	0.31370	N	0.680264	B;B	0.34290	0.447;0.192	B;B	0.28638	0.092;0.033	T	0.05194	-1.0900	10	0.14656	T	0.56	-28.9827	14.1684	0.65493	0.0:0.0:1.0:0.0	.	921;921	B4DH14;O15055	.;PER2_HUMAN	S	921	ENSP00000254657:P921S	ENSP00000254657:P921S	P	-	1	0	0	PER2	238826642	238826642	0.997000	0.39634	0.939000	0.37840	0.168000	0.22595	2.642000	0.46596	2.102000	0.63906	0.549000	0.68633	CCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_022817			75	75		388	378	1		1	1		0	0	78	0		1	9.997585e-01	0	12	0	53	0	75	388
PER2	8864	broad.mit.edu	37	2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L|PER2_ENST00000355768.2_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	239	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAACTGTGGAACACGCCCACA	0.537																																						ENST00000254657.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(715-717)Ttc>Ctc		period circadian clock 2							144.0	126.0	132.0					2																	239180010		2203	4300	6503	SO:0001583	missense	8864	0	0					g.chr2:239180010A>G	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.715T>C	chr2.hg19:g.239180010A>G	ENSP00000254657:p.Phe239Leu	1					PER2_ENST00000254658.3_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000355768.2_Missense_Mutation_p.F239L	p.F239L	NM_022817.2	NP_073728.1	1	2	3	2.111737	O15055	PER2_HUMAN		6	994	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	1	1	hg19	c.715T>C	CCDS2528.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987642	0.74589	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.58210	2.42;0.35;1.66;0.35	5.06	5.06	0.68205	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.982;1.0;0.999	D;D;D;D	0.91635	0.997;0.952;0.999;0.998	T	0.77520	-0.2557	10	0.52906	T	0.07	-35.2439	13.0997	0.59212	1.0:0.0:0.0:0.0	.	239;239;239;239	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	239	ENSP00000254657:F239L;ENSP00000254658:F239L;ENSP00000397516:F239L;ENSP00000348013:F239L	ENSP00000254657:F239L	F	-	1	0	0	PER2	238844749	238844749	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000	NM_022817			127	127		478	473	1		1	1		0	0	133	0		1	8.978955e-01	0	2	0	15	0	127	478
TRAF3IP1	26146	broad.mit.edu	37	2	239234548	239234548	+	Silent	SNP	G	G	A	rs377279034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391994.2_Silent_p.A97A|TRAF3IP1_ENST00000391993.3_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	97	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468																																						ENST00000373327.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(289-291)gcG>gcA		TNF receptor-associated factor 3 interacting protein 1		G	,	0,4406		0,0,2203	79.0	72.0	74.0		291,291	-8.7	0.3	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAF3IP1	NM_001139490.1,NM_015650.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	97/626,97/692	239234548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26146	12	121412	41				g.chr2:239234548G>A	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.291G>A	chr2.hg19:g.239234548G>A		1					TRAF3IP1_ENST00000391994.2_Silent_p.A97A|TRAF3IP1_ENST00000391993.3_Silent_p.A97A	p.A97A	NM_015650.3	NP_056465.2	1	2	3	2.111737	Q8TDR0	MIPT3_HUMAN		3	513	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	1	1	hg19	c.291G>A	CCDS33415.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-5.059833	1	0.170000	NM_015650			76	74		217	213	1		1	1		0	0	68	0		1	1	0	31	0	54	0	76	217
TRAF3IP1	26146	broad.mit.edu	37	2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	574	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552																																						ENST00000373327.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1720-1722)aAg>aCg		TNF receptor-associated factor 3 interacting protein 1							111.0	107.0	108.0					2																	239306131		2203	4300	6503	SO:0001583	missense	26146	0	0					g.chr2:239306131A>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1721A>C	chr2.hg19:g.239306131A>C	ENSP00000362424:p.Lys574Thr	1					TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T	p.K574T	NM_015650.3	NP_056465.2	1	2	3	2.111737	Q8TDR0	MIPT3_HUMAN		16	1943	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	1	1	hg19	c.1721A>C	CCDS33415.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447268	0.84101	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72338	0.977;0.937	T	0.12218	-1.0556	10	0.72032	D	0.01	-44.9473	11.4061	0.49898	0.9275:0.0:0.0724:0.0	.	508;574	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	508;574;574;508	ENSP00000375851:K508T;ENSP00000362424:K574T;ENSP00000375852:K574T	ENSP00000362424:K574T	K	+	2	0	0	TRAF3IP1	238970870	238970870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.663000	0.61532	2.062000	0.61559	0.533000	0.62120	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_015650			115	114		392	387	1		1	1		0	0	115	0		1	1	0	35	0	62	0	115	392
ATAD2B	54454	broad.mit.edu	37	2	23977640	23977640	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	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	1361						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373																																						ENST00000238789.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(4081-4083)gcT>gcG		ATPase family, AAA domain containing 2B							58.0	61.0	60.0					2																	23977640		1808	4071	5879	SO:0001819	synonymous_variant	54454	0	0					g.chr2:23977640A>C	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.4083T>G	chr2.hg19:g.23977640A>C		1					ATAD2B_ENST00000474583.1_5'UTR	p.A1361A	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	1	2	3	2.183349	Q9ULI0	ATD2B_HUMAN		26	4426	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	1	1	hg19	c.4083T>G	CCDS46227.1	1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270175	0.23221	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.39	1.7	0.24286	5.39	1.7	0.24286	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	.	4.9134	0.13833	0.496:0.3372:0.1669:0.0	.	.	.	.	R	637	.	.	L	-	2	0	0	ATAD2B	23831144	23831144	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	0.076000	0.14712	0.434000	0.26340	0.528000	0.53228	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_017552			64	63		185	183	1		1	1		0	0	63	0		1	7.700446e-01	0	4	0	6	0	64	185
TRAF3IP1	26146	broad.mit.edu	37	2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	591	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542																																						ENST00000373327.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1771-1773)caG>caT		TNF receptor-associated factor 3 interacting protein 1							106.0	99.0	102.0					2																	239306183		2203	4300	6503	SO:0001583	missense	26146	1	121400	29				g.chr2:239306183G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1773G>T	chr2.hg19:g.239306183G>T	ENSP00000362424:p.Gln591His	1					TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H	p.Q591H	NM_015650.3	NP_056465.2	1	2	3	2.111737	Q8TDR0	MIPT3_HUMAN		16	1995	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	1	1	hg19	c.1773G>T	CCDS33415.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983062	0.93044	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.59502	0.26;0.26;0.26	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83168	-0.0095	10	0.87932	D	0	-46.5263	19.0814	0.93185	0.0:0.0:1.0:0.0	.	525;591	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	525;591;591;525	ENSP00000375851:Q525H;ENSP00000362424:Q591H;ENSP00000375852:Q591H	ENSP00000362424:Q591H	Q	+	3	2	2	TRAF3IP1	238970922	238970922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.262000	0.78410	2.514000	0.84764	0.655000	0.94253	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	0		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_015650			90	88		319	315	1		1	1		0	0	96	0		1	9.999937e-01	0	26	0	38	0	90	319
HDAC4	9759	broad.mit.edu	37	2	239988511	239988511	+	Silent	SNP	G	G	A	rs61735640	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239988511G>A	ENST00000345617.3	-	24	3686	c.2895C>T	c.(2893-2895)ggC>ggT	p.G965G	AC017028.3_ENST00000584260.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.4_ENST00000577359.1_RNA|HDAC4_ENST00000543185.1_Silent_p.G549G|AC017028.5_ENST00000582834.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.10_ENST00000579161.1_RNA|MIR4440_ENST00000583986.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	965	Histone deacetylase.				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)			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)		CAATCCGGCCGCCAGCCAGGC	0.642													G|||	92	0.0183706	0.0673	0.0043	5008	,	,		17033	0.0		0.0	False		,,,				2504	0.0					ENST00000345617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2893-2895)ggC>ggT		histone deacetylase 4		G		250,4154	141.5+/-176.9	9,232,1961	34.0	32.0	33.0		2895	-1.9	1.0	2	dbSNP_129	33	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	HDAC4	NM_006037.3		9,235,6258	AA,AG,GG		0.0349,5.6767,1.9456		965/1085	239988511	253,12751	2202	4300	6502	SO:0001819	synonymous_variant	9759	642	121404	58				g.chr2:239988511G>A	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.2895C>T	chr2.hg19:g.239988511G>A		1					AC017028.9_ENST00000581111.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.6_ENST00000577291.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.3_ENST00000584260.1_RNA|AC017028.10_ENST00000579161.1_RNA|HDAC4_ENST00000543185.1_Silent_p.G549G|AC017028.5_ENST00000582834.1_RNA	p.G965G	NM_006037.3	NP_006028.2	1	2	3	2.111737	P56524	HDAC4_HUMAN		24	3686	-		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)	Q9UND6	Silent	SNP	ENST00000345617.3	1	0	hg19	c.2895C>T	CCDS2529.1	1	32	0.014652014652014652	30	0.06097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	G	10.78	1.445630	0.25987	0.056767	3.49E-4	ENSG00000068024	ENST00000430200	.	.	.	4.21	-1.94	0.07571	4.21	-1.94	0.07571	.	.	.	.	.	T	0.05686	0.0149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15435	-1.0437	4	.	.	.	.	1.2023	0.01887	0.1858:0.2069:0.3754:0.232	.	.	.	.	V	56	.	.	A	-	2	0	0	HDAC4	239653448	239653448	0.000000	0.05858	0.996000	0.52242	0.980000	0.70556	-3.259000	0.00536	-0.238000	0.09724	-0.423000	0.05987	GCG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-2.027503	0	0.170000	NM_006037			65	66		232	229	0		1	1		0	0	39	0		1	6.791388e-01	0	2	0	8	0	65	232
HDAC4	9759	broad.mit.edu	37	2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	684	Histone deacetylase.				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)			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)		GACCAGATGCTCTGGATCCTC	0.682																																						ENST00000345617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2050-2052)Agc>Ggc		histone deacetylase 4							28.0	28.0	28.0					2																	240029793		2194	4299	6493	SO:0001583	missense	9759	0	0					g.chr2:240029793T>C	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.2050A>G	chr2.hg19:g.240029793T>C	ENSP00000264606:p.Ser684Gly	1					HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G|HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G	p.S684G	NM_006037.3	NP_006028.2	1	2	3	2.111737	P56524	HDAC4_HUMAN		15	2841	-		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)	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	1	1	hg19	c.2050A>G	CCDS2529.1	1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518191	0.85495	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.70986	-0.53;-0.53;-0.53	4.01	4.01	0.46588	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.998;1.0;1.0;0.999	P;D;D;D;D;D	0.85130	0.741;0.997;0.988;0.997;0.988;0.987	D	0.87265	0.2282	10	0.87932	D	0	.	13.2665	0.60137	0.0:0.0:0.0:1.0	.	684;567;658;658;652;684	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	684;572;268;658;567	ENSP00000264606:S684G;ENSP00000440481:S268G;ENSP00000443057:S658G	ENSP00000264606:S684G	S	-	1	0	0	HDAC4	239694730	239694730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	1.598000	0.50083	0.460000	0.39030	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_006037			54	54		164	157	1		1	1		0	0	30	0		1	8.322539e-01	0	4	0	8	0	54	164
HDAC4	9759	broad.mit.edu	37	2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	644					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)			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)		GGGGGCTCCTGCACAGACACG	0.701																																						ENST00000345617.3	1.000000	0.420000	1	6.100000e-01	0.860000	0.826751	0.860000	1.000000																										0				62						c.(1930-1932)Cag>Tag		histone deacetylase 4							26.0	23.0	24.0					2																	240033255		2199	4300	6499	SO:0001587	stop_gained	9759	0	0					g.chr2:240033255G>A	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.1930C>T	chr2.hg19:g.240033255G>A	ENSP00000264606:p.Gln644*	1					HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*	p.Q644*	NM_006037.3	NP_006028.2	1	2	3	2.111737	P56524	HDAC4_HUMAN		14	2721	-		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)	Q9UND6	Nonsense_Mutation	SNP	ENST00000345617.3	0	1	hg19	c.1930C>T	CCDS2529.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.730069	0.98456	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	.	.	.	4.15	4.15	0.48705	4.15	4.15	0.48705	.	0.567018	0.18426	N	0.141592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.8141	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	644;532;228;618;527	.	ENSP00000264606:Q644X	Q	-	1	0	0	HDAC4	239698192	239698192	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	8.974000	0.93433	2.038000	0.60285	0.591000	0.81541	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-12.802380	1	0.170000	NM_006037			9	9		132	131	0		1	1		0	0	23	0		9.945254e-01	4.713681e-01	0	2	0	21	0	9	132
ATAD2B	54454	broad.mit.edu	37	2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	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	814						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACATGATTCCTCAGGTGTT	0.398																																						ENST00000238789.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				1						c.(2440-2442)Gaa>Taa		ATPase family, AAA domain containing 2B							91.0	95.0	94.0					2																	24033200		1888	4121	6009	SO:0001587	stop_gained	54454	0	0					g.chr2:24033200C>A	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.2440G>T	chr2.hg19:g.24033200C>A	ENSP00000238789:p.Glu814*	1					ATAD2B_ENST00000474583.1_5'UTR	p.E814*	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	1	2	3	2.183349	Q9ULI0	ATD2B_HUMAN		18	2783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	0	1	hg19	c.2440G>T	CCDS46227.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.798718|10.798718	0.99470|0.99470	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.546240|.	0.19494|.	N|.	0.112908|.	.|T	.|0.79747	.|0.4499	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77713	.|-0.2485	.|3	0.36615|.	T|.	0.2|.	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	814|94	.|.	ENSP00000238789:E814X|.	E|R	-|-	1|3	0|2	0|2	ATAD2B|ATAD2B	23886704|23886704	23886704|23886704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAA|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.224948	1	0.170000	NM_017552			33	31		207	203	1		1	1		0	0	42	0		1	3.127592e-01	0	2	0	6	0	33	207
HDAC4	9759	broad.mit.edu	37	2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W|HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	448					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)			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)		GGGGACACCCGGTCTGCACCA	0.637																																						ENST00000345617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1342-1344)Cgg>Tgg		histone deacetylase 4							35.0	41.0	39.0					2																	240048328		2203	4300	6503	SO:0001583	missense	9759	0	0					g.chr2:240048328G>A	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.1342C>T	chr2.hg19:g.240048328G>A	ENSP00000264606:p.Arg448Trp	1					HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W|HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W	p.R448W	NM_006037.3	NP_006028.2	1	2	3	2.111737	P56524	HDAC4_HUMAN		12	2133	-		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)	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	1	1	hg19	c.1342C>T	CCDS2529.1	1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766312	0.69878	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.69685	0.06;-0.42;1.22	4.46	3.55	0.40652	4.46	3.55	0.40652	.	0.096845	0.43110	D	0.000618	T	0.80199	0.4579	M	0.78456	2.415	0.44880	D	0.99789	D;D;P;D;D;D	0.89917	0.999;1.0;0.803;1.0;0.999;0.998	D;D;B;D;P;P	0.79784	0.952;0.985;0.164;0.993;0.739;0.784	T	0.80888	-0.1181	9	.	.	.	.	12.9074	0.58160	0.0:0.0:0.6027:0.3973	.	448;331;422;422;416;448	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	W	448;336;32;422;331	ENSP00000264606:R448W;ENSP00000440481:R32W;ENSP00000443057:R422W	.	R	-	1	2	2	HDAC4	239713265	239713265	0.427000	0.25514	0.960000	0.40013	0.979000	0.70002	1.296000	0.33389	0.956000	0.37904	0.563000	0.77884	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-5.299554	1	0.170000	NM_006037			85	83		241	236	1		1	1		0	0	52	0		1	9.788888e-01	0	7	0	13	0	85	241
NDUFA10	4705	broad.mit.edu	37	2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000252711.2	-	9	1047	c.947A>T	c.(946-948)gAa>gTa	p.E316V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	316					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATGGTGACTTCCGGGAGAAA	0.443																																						ENST00000252711.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(946-948)gAa>gTa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa							124.0	114.0	117.0					2																	240929543		2203	4300	6503	SO:0001583	missense	4705	0	0					g.chr2:240929543T>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.947A>T	chr2.hg19:g.240929543T>A	ENSP00000252711:p.Glu316Val	1					NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	p.E316V	NM_004544.3	NP_004535.1	1	2	3	2.111737	O95299	NDUAA_HUMAN		9	1047	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	1	1	hg19	c.947A>T	CCDS2531.1	1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247391	0.39697	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000448880;ENST00000307300	D;D;D;D	0.87729	-1.91;-2.06;-2.1;-2.29	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.93527	0.6866	10	0.87932	D	0	-27.0026	11.0376	0.47811	0.0:0.0:0.0:1.0	.	346;316	Q8WXC9;O95299	.;NDUAA_HUMAN	V	81;316;316;316;220;79;346	ENSP00000252711:E316V;ENSP00000385697:E316V;ENSP00000411527:E220V;ENSP00000302321:E346V	ENSP00000252711:E316V	E	-	2	0	0	NDUFA10	240578216	240578216	0.478000	0.25917	0.721000	0.30653	0.018000	0.09664	3.088000	0.50175	1.937000	0.56155	0.460000	0.39030	GAA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_004544			118	115		324	316	1		1	1		0	0	80	0		1	1	0	141	0	285	0	118	324
NDUFA10	4705	broad.mit.edu	37	2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T	rs529791334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000252711.2	-	3	413	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	105					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TAGTCGGTGGCGAGGGGCTTC	0.488											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(313-315)Gcc>Acc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa							91.0	91.0	91.0					2																	240960761		2203	4300	6503	SO:0001583	missense	4705	3	121412	34				g.chr2:240960761C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.313G>A	chr2.hg19:g.240960761C>T	ENSP00000252711:p.Ala105Thr	1		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	p.A105T	NM_004544.3	NP_004535.1	1	2	3	2.111737	O95299	NDUAA_HUMAN		3	413	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	1	1	hg19	c.313G>A	CCDS2531.1	1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892791	0.17613	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	T;T;T;T;T	0.77489	-1.1;-1.1;-1.06;-1.08;-1.06	4.25	1.38	0.22167	4.25	1.38	0.22167	.	0.804462	0.11893	N	0.519457	T	0.61211	0.2329	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44817	-0.9303	10	0.27785	T	0.31	-16.1577	4.4684	0.11700	0.0:0.4281:0.3652:0.2067	.	105;105;110;105	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	T	105	ENSP00000252711:A105T;ENSP00000385697:A105T;ENSP00000411527:A105T;ENSP00000302321:A105T;ENSP00000383975:A105T	ENSP00000252711:A105T	A	-	1	0	0	NDUFA10	240609434	240609434	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.501000	0.22578	0.496000	0.27904	0.563000	0.77884	GCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-5.418392	1	0.170000	NM_004544			73	70		210	204	1		1	1		0	0	45	0		1	1	0	196	0	322	0	73	210
OR6B2	389090	broad.mit.edu	37	2	240969775	240969775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612																																						ENST00000402971.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(70-72)caG>caA		olfactory receptor, family 6, subfamily B, member 2							46.0	51.0	50.0					2																	240969775		2043	4191	6234	SO:0001819	synonymous_variant	389090	0	0					g.chr2:240969775C>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.72G>A	chr2.hg19:g.240969775C>T		1						p.Q24Q	NM_001005853.1	NP_001005853.1	1	2	3	2.111737	Q6IFH4	OR6B2_HUMAN		1	131	-		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)	B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	1	1	hg19	c.72G>A	CCDS46559.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	1	0	1		2	2	2	0		0	0	63		63	65	1	2.060000	-20.000000	1	0.170000	NM_001005853			97	88		242	220	1		1			0	0	63	0		1	0	0	0	0	0	0	97	242
MYEOV2	150678	broad.mit.edu	37	2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000607357.1	-	2	128	c.110A>C	c.(109-111)aAg>aCg	p.K37T	MYEOV2_ENST00000307266.3_Missense_Mutation_p.K68T|MYEOV2_ENST00000489698.1_5'UTR	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483																																						ENST00000607357.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(109-111)aAg>aCg		myeloma overexpressed 2							123.0	127.0	126.0					2																	241073376		2203	4300	6503	SO:0001583	missense	150678	0	0					g.chr2:241073376T>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.110A>C	chr2.hg19:g.241073376T>G	ENSP00000475979:p.Lys37Thr	1					MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.K68T	p.K37T	NM_001163424.1	NP_001156896.1	1	2	3	2.111737	Q8WXC6	MYOV2_HUMAN		2	128	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Q8N110	Missense_Mutation	SNP	ENST00000607357.1	1	1	hg19	c.110A>C		1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280652	0.80692	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.77705	0.4170	.	.	.	0.80722	D	1	D;D	0.67145	0.968;0.996	D;D	0.75484	0.969;0.986	T	0.80828	-0.1208	8	0.87932	D	0	-11.1793	12.1591	0.54093	0.0:0.0:0.0:1.0	.	37;68	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	T	68;58	.	ENSP00000304147:K68T	K	-	2	0	0	MYEOV2	240722049	240722049	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.262000	0.72514	1.817000	0.53016	0.528000	0.53228	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_138336			82	81		482	473	1		1	1		0	0	94	0		1	1	0	137	0	484	0	82	482
MYEOV2	150678	broad.mit.edu	37	2	241073406	241073406	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073406C>T	ENST00000607357.1	-	2	98	c.80G>A	c.(79-81)gGg>gAg	p.G27E	MYEOV2_ENST00000307266.3_Missense_Mutation_p.G58E|MYEOV2_ENST00000489698.1_5'UTR	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	27										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CATCAAGAGCCCGGTGCTGCC	0.498																																						ENST00000607357.1	1.000000	0.150000	4.300000e-01	2.200000e-01	0.300000	0.366767	0.300000	0.290000																										0				7						c.(79-81)gGg>gAg		myeloma overexpressed 2							98.0	105.0	103.0					2																	241073406		2203	4300	6503	SO:0001583	missense	150678	0	0					g.chr2:241073406C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.80G>A	chr2.hg19:g.241073406C>T	ENSP00000475979:p.Gly27Glu	1					MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.G58E	p.G27E	NM_001163424.1	NP_001156896.1	1	2	3	2.111737	Q8WXC6	MYOV2_HUMAN		2	98	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Q8N110	Missense_Mutation	SNP	ENST00000607357.1	0	1	hg19	c.80G>A		0	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457887	0.84317	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.78842	0.4347	.	.	.	0.80722	D	1	P;D	0.89917	0.476;1.0	B;D	0.79108	0.219;0.992	T	0.82311	-0.0520	8	0.87932	D	0	-2.6468	15.1841	0.72986	0.0:1.0:0.0:0.0	.	27;58	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	E	58;48	.	ENSP00000304147:G58E	G	-	2	0	0	MYEOV2	240722079	240722079	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	4.459000	0.60102	2.240000	0.73641	0.650000	0.86243	GGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	0	0	0		2	2	2	0		0	0	80		80	78	1	2.060000	-2.731377	1	0.170000	NM_138336			12	11		522	513	0		1	1		0	0	80	0		9.990249e-01	9.994393e-01	0	22	0	551	0	12	522
ANKMY1	51281	broad.mit.edu	37	2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000272972.3	-	4	755	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	181							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468																																						ENST00000272972.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(541-543)Ccc>Tcc		ankyrin repeat and MYND domain containing 1							149.0	146.0	147.0					2																	241468599		2203	4300	6503	SO:0001583	missense	51281	0	0					g.chr2:241468599G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.541C>T	chr2.hg19:g.241468599G>A	ENSP00000272972:p.Pro181Ser	1					ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron	p.P181S	NM_016552.2	NP_057636.2	1	2	3	2.111737	Q9P2S6	ANKY1_HUMAN		4	755	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	1	1	hg19	c.541C>T	CCDS2536.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064013|3.064013	0.55432|0.55432	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05	5.06|5.06	5.06|5.06	0.68205|0.68205	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.075541	.|0.52532	.|D	.|0.000066	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69308|0.69308	-0.5179|-0.5179	5|10	.|0.62326	.|D	.|0.03	-6.3456|-6.3456	16.267|16.267	0.82593|0.82593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	V|S	125|181;181;270;181;181	.|ENSP00000272972:P181S;ENSP00000375847:P181S;ENSP00000385887:P270S;ENSP00000407015:P181S	.|ENSP00000272972:P181S	A|P	-|-	2|1	0|0	0|0	ANKMY1|ANKMY1	241117272|241117272	241117272|241117272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	4.237000|4.237000	0.58681|0.58681	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCC|CCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	1	0	1		2	2	2	0		0	0	71		71	68	1	2.060000	-20.000000	1	0.170000	NM_017844			108	108		392	386	1		1	1		0	0	71	0		1	2.984028e-01	0	3	0	2	0	108	392
ANKMY1	51281	broad.mit.edu	37	2	241492362	241492362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241492362C>A	ENST00000272972.3	-	3	396	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000462004.1_5'UTR	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	61							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTACATGGTGCCGTAGCCTTC	0.557																																						ENST00000272972.3	1.000000	0.140000	5.200000e-01	2.200000e-01	0.330000	0.396933	0.330000	0.290000																										0				30						c.(181-183)gGc>gTc		ankyrin repeat and MYND domain containing 1							116.0	101.0	106.0					2																	241492362		2203	4300	6503	SO:0001583	missense	51281	0	0					g.chr2:241492362C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.182G>T	chr2.hg19:g.241492362C>A	ENSP00000272972:p.Gly61Val	1					ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000462004.1_5'UTR	p.G61V	NM_016552.2	NP_057636.2	1	2	3	2.111737	Q9P2S6	ANKY1_HUMAN		3	396	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	0	1	hg19	c.182G>T	CCDS2536.1	0	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779807	0.49891	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000539830;ENST00000441168;ENST00000418708;ENST00000418505	T;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;0.63;0.53;0.53;0.53;0.53;0.53;0.53	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.301070	0.30347	N	0.009840	T	0.81645	0.4866	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.984;1.0;1.0;1.0;1.0;1.0;0.998	D	0.88007	0.2760	10	0.87932	D	0	.	15.849	0.78912	0.0:1.0:0.0:0.0	.	61;61;103;61;150;150;150;61	Q4ZFV3;C9J176;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;.;ANKY1_HUMAN	V	150;150;61;150;61;61;229;150;103;150;61;61;103;61;61	ENSP00000362415:G150V;ENSP00000384555:G150V;ENSP00000272972:G61V;ENSP00000355097:G150V;ENSP00000375847:G61V;ENSP00000362417:G61V;ENSP00000383968:G229V;ENSP00000385887:G150V;ENSP00000444707:G103V;ENSP00000385635:G150V;ENSP00000385145:G61V;ENSP00000405938:G103V;ENSP00000407015:G61V;ENSP00000412094:G61V	ENSP00000272972:G61V	G	-	2	0	0	ANKMY1	241141035	241141035	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.299000	0.59073	2.437000	0.82529	0.655000	0.94253	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-7.817648	1	0.170000	NM_017844			7	8		287	277	0		1	1		0	0	68	0		9.786996e-01	1.596985e-01	0	3	0	23	0	7	287
AQP12B	653437	broad.mit.edu	37	2	241622183	241622183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	24						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A24A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-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;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672																																						ENST00000407834.3	1.000000	0.310000	7.200000e-01	4.000000e-01	0.530000	0.574690	0.530000	0.500000																										1	Substitution - coding silent(1)	p.A24A(1)	endometrium(1)	13						c.(70-72)gcC>gcA		aquaporin 12B							37.0	44.0	41.0					2																	241622183		2188	4288	6476	SO:0001819	synonymous_variant	653437	0	0					g.chr2:241622183G>T	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.72C>A	chr2.hg19:g.241622183G>T		1						p.A24A	NM_001102467.1	NP_001095937.1	1	2	3	2.111737	A6NM10	AQ12B_HUMAN		1	134	-		all_epithelial(40;1.71e-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)	A4QPB9	Silent	SNP	ENST00000407834.3	1	1	hg19	c.72C>A	CCDS46560.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-16.533740	1	0.170000				16	16		382	375	0		1			0	0	72	0		9.999268e-01	0	0	0	0	0	0	16	382
KIF1A	547	broad.mit.edu	37	2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000320389.7	-	47	5195	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1679					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662																																						ENST00000320389.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(5035-5037)aaG>aaT		kinesin family member 1A							57.0	71.0	67.0					2																	241656817		2085	4207	6292	SO:0001583	missense	547	0	0					g.chr2:241656817C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5037G>T	chr2.hg19:g.241656817C>A	ENSP00000322791:p.Lys1679Asn	1					KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	p.K1679N	NM_004321.6	NP_004312.2	1	2	3	2.111737	Q12756	KIF1A_HUMAN		47	5195	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	1	1	hg19	c.5037G>T	CCDS46561.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086776	0.76642	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75154	-0.83;-0.91	4.47	3.57	0.40892	4.47	3.57	0.40892	.	0.114821	0.56097	U	0.000025	D	0.82806	0.5117	M	0.70275	2.135	0.47214	D	0.999357	D;D	0.76494	0.984;0.999	P;D	0.78314	0.844;0.991	D	0.84048	0.0368	10	0.87932	D	0	.	9.8734	0.41189	0.0:0.8329:0.0:0.1671	.	1780;1679	F5H045;Q12756	.;KIF1A_HUMAN	N	1679;1780;1788	ENSP00000322791:K1679N;ENSP00000438388:K1780N	ENSP00000322791:K1679N	K	-	3	2	2	KIF1A	241305490	241305490	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.958000	0.40402	2.189000	0.69895	0.563000	0.77884	AAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_138483			106	105		391	378	1		1	0		0	0	78	0		1	6.041332e-01	0	0	0	9	0	106	391
KIF1A	547	broad.mit.edu	37	2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000320389.7	-	37	3881	c.3723G>T	c.(3721-3723)gaG>gaT	p.E1241D	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1241					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527																																						ENST00000320389.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3721-3723)gaG>gaT		kinesin family member 1A							52.0	54.0	53.0					2																	241666339		2044	4219	6263	SO:0001583	missense	547	0	0					g.chr2:241666339C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3723G>T	chr2.hg19:g.241666339C>A	ENSP00000322791:p.Glu1241Asp	1					KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	p.E1241D	NM_004321.6	NP_004312.2	1	2	3	2.111737	Q12756	KIF1A_HUMAN		37	3881	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	1	1	hg19	c.3723G>T	CCDS46561.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425037|3.425037	0.62733|0.62733	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.75589|.	-0.81;-0.89;-0.95|.	4.62|4.62	-0.146|-0.146	0.13432|0.13432	4.62|4.62	-0.146|-0.146	0.13432|0.13432	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.78456|0.78456	2.415|2.415	0.45227|0.45227	D|D	0.998237|0.998237	B;B;P|.	0.43431|.	0.149;0.05;0.807|.	B;B;B|.	0.41946|.	0.109;0.041;0.371|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.46703|.	T|.	0.11|.	.|.	9.9148|9.9148	0.41427|0.41427	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	1342;1350;1241|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	D|M	1241;1342;1350;1350|174	ENSP00000322791:E1241D;ENSP00000438388:E1342D;ENSP00000384231:E1350D|.	ENSP00000322791:E1241D|.	E|R	-|-	3|2	2|0	2|0	KIF1A|KIF1A	241315012|241315012	241315012|241315012	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.756000|0.756000	0.42949|0.42949	1.795000|1.795000	0.38784|0.38784	0.056000|0.056000	0.16144|0.16144	-0.237000|-0.237000	0.12165|0.12165	GAG|AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_138483			22	21		69	68	1		1	0		0	0	17	0		9.999995e-01	8.196741e-01	0	0	0	12	0	22	69
KIF1A	547	broad.mit.edu	37	2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000320389.7	-	25	2613	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	819					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662																																						ENST00000320389.7	1.000000	0.740000	1	9.900000e-01	0.990000	0.979346	0.990000	1.000000																										0				66						c.(2455-2457)Gct>Act		kinesin family member 1A							51.0	59.0	56.0					2																	241697877		2170	4267	6437	SO:0001583	missense	547	1	121196	27				g.chr2:241697877C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2455G>A	chr2.hg19:g.241697877C>T	ENSP00000322791:p.Ala819Thr	1					KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	p.A819T	NM_004321.6	NP_004312.2	1	2	3	2.111737	Q12756	KIF1A_HUMAN		25	2613	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	1	1	hg19	c.2455G>A	CCDS46561.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.813877	0.96975	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76968	-1.06;-1.06;-1.06	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.85128	0.5626	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.879;1.0;1.0	P;D;D	0.79784	0.559;0.97;0.993	T	0.80826	-0.1209	10	0.15952	T	0.53	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	828;828;819	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	819;828;828;828	ENSP00000322791:A819T;ENSP00000438388:A828T;ENSP00000384231:A828T	ENSP00000322791:A819T	A	-	1	0	0	KIF1A	241346550	241346550	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	7.571000	0.82399	2.473000	0.83533	0.591000	0.81541	GCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-17.787170	1	0.170000	NM_138483			11	11		94	94	1		1	0		0	0	26	0		9.986351e-01	1.842569e-01	0	0	0	7	0	11	94
KIF1A	547	broad.mit.edu	37	2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000320389.7	-	15	1527	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	457					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627																																						ENST00000320389.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				66						c.(1369-1371)Cgg>Tgg		kinesin family member 1A							83.0	81.0	81.0					2																	241709069		2115	4250	6365	SO:0001583	missense	547	0	0					g.chr2:241709069G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1369C>T	chr2.hg19:g.241709069G>A	ENSP00000322791:p.Arg457Trp	1					KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	p.R457W	NM_004321.6	NP_004312.2	1	2	3	2.111737	Q12756	KIF1A_HUMAN		15	1527	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	1	1	hg19	c.1369C>T	CCDS46561.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851725	0.71719	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.63;-0.71;-0.78	4.39	-0.253	0.12996	4.39	-0.253	0.12996	.	0.200297	0.36066	U	0.002811	D	0.83225	0.5208	M	0.76170	2.325	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;0.987	D;D;P	0.75484	0.963;0.986;0.76	D	0.84476	0.0602	10	0.87932	D	0	.	13.2152	0.59856	0.0:0.0:0.3248:0.6752	.	466;466;457	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	457;466;466;466	ENSP00000322791:R457W;ENSP00000438388:R466W;ENSP00000384231:R466W	ENSP00000322791:R457W	R	-	1	2	2	KIF1A	241357742	241357742	0.394000	0.25246	0.995000	0.50966	0.977000	0.68977	0.811000	0.27198	0.295000	0.22570	0.585000	0.79938	CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.229784	1	0.170000	NM_138483			28	28		137	136	1		1	0		0	0	37	0		1	4.150914e-01	0	0	0	8	0	28	137
KIF1A	547	broad.mit.edu	37	2	241737164	241737164	+	Silent	SNP	G	G	A	rs371266160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241737164G>A	ENST00000320389.7	-	2	164	c.6C>T	c.(4-6)gcC>gcT	p.A2A	KIF1A_ENST00000498729.2_Silent_p.A2A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	2					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGAAGCCCCGGCCATCTCTG	0.562																																						ENST00000320389.7	1.000000	0.310000	1	5.100000e-01	0.810000	0.778417	0.810000	1.000000																										0				66						c.(4-6)gcC>gcT		kinesin family member 1A		G		0,3884		0,0,1942	23.0	26.0	25.0		6	-5.2	1.0	2		25	1,8257		0,1,4128	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6070	AA,AG,GG		0.0121,0.0,0.0082		2/1691	241737164	1,12141	1942	4129	6071	SO:0001819	synonymous_variant	547	3	120618	31				g.chr2:241737164G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.6C>T	chr2.hg19:g.241737164G>A		1					KIF1A_ENST00000498729.2_Silent_p.A2A	p.A2A	NM_004321.6	NP_004312.2	1	2	3	2.111737	Q12756	KIF1A_HUMAN		2	164	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	0	1	hg19	c.6C>T	CCDS46561.1	0																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-9.065865	1	0.170000	NM_138483			5	5		82	81	0		1	0		0	0	15	0		9.375449e-01	0	0	0	0	1	0	5	82
AGXT	189	broad.mit.edu	37	2	241808766	241808766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	115					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CCGTGGACATCGGGGAGCGCA	0.657																																						ENST00000307503.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(343-345)atC>atT		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)						55.0	56.0	56.0					2																	241808766		2203	4300	6503	SO:0001819	synonymous_variant	189	0	0					g.chr2:241808766C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.345C>T	chr2.hg19:g.241808766C>T		1						p.I115I	NM_000030.2	NP_000021.1	1	2	3	2.111737	P21549	SPYA_HUMAN		2	732	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Q53QU6	Silent	SNP	ENST00000307503.3	1	1	hg19	c.345C>T	CCDS2543.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	1	0	1		2	2	2	0		0	0	66		66	61	1	2.060000	-20.000000	1	0.170000	NM_000030			60	59		344	324	1		1			0	0	66	0		1	0	0	0	0	0	0	60	344
AGXT	189	broad.mit.edu	37	2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A	rs547633289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	255					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGGCTGTGACGACCAGCCCAG	0.602																																						ENST00000307503.3	1.000000	0.280000	7.000000e-01	3.800000e-01	0.500000	0.550742	0.500000	0.470000																										0				18						c.(763-765)Gac>Aac		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)						67.0	63.0	64.0					2																	241814608		2203	4300	6503	SO:0001583	missense	189	4	121412	37				g.chr2:241814608G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.763G>A	chr2.hg19:g.241814608G>A	ENSP00000302620:p.Asp255Asn	1						p.D255N	NM_000030.2	NP_000021.1	1	2	3	2.111737	P21549	SPYA_HUMAN		7	1150	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	1	1	hg19	c.763G>A	CCDS2543.1	0	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296783	0.23650	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	3.79	2.61	0.31194	3.79	2.61	0.31194	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.360637	0.30260	N	0.010038	T	0.78444	0.4284	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.68450	-0.5405	10	0.40728	T	0.16	-15.842	11.0699	0.47997	0.1204:0.0:0.8796:0.0	.	255	P21549	SPYA_HUMAN	N	255	ENSP00000302620:D255N	ENSP00000302620:D255N	D	+	1	0	0	AGXT	241463281	241463281	0.714000	0.27936	0.291000	0.24904	0.339000	0.28857	3.413000	0.52686	1.674000	0.50907	0.639000	0.83563	GAC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.389382	1	0.170000	NM_000030			14	14		355	348	0		1			0	0	62	0		9.997331e-01	0	0	0	0	0	0	14	355
UBXN2A	165324	broad.mit.edu	37	2	24194191	24194191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000535786.1_Silent_p.Q29Q|UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	29					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333																																						ENST00000309033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(85-87)caA>caG		UBX domain protein 2A							134.0	142.0	140.0					2																	24194191		2203	4300	6503	SO:0001819	synonymous_variant	165324	0	0					g.chr2:24194191A>G	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.87A>G	chr2.hg19:g.24194191A>G		1					UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	p.Q29Q	NM_181713.3	NP_859064.2	1	2	3	2.183349	P68543	UBX2A_HUMAN		3	331	+			A8K577|B7ZKP8|Q569G8	Silent	SNP	ENST00000309033.4	1	1	hg19	c.87A>G	CCDS1704.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_181713			153	150		374	369	1		1	1		0	0	106	0		1	9.992413e-01	0	6	0	23	0	153	374
C2orf54	79919	broad.mit.edu	37	2	241829557	241829557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000388934.4	-	3	917	c.759G>A	c.(757-759)ctG>ctA	p.L253L	C2orf54_ENST00000307486.8_Silent_p.L104L|C2orf54_ENST00000402775.2_Silent_p.L85L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682																																						ENST00000388934.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(757-759)ctG>ctA		chromosome 2 open reading frame 54							34.0	40.0	38.0					2																	241829557		2068	4195	6263	SO:0001819	synonymous_variant	79919	0	0					g.chr2:241829557C>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.759G>A	chr2.hg19:g.241829557C>T		1					C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000307486.8_Silent_p.L104L	p.L253L	NM_001085437.1	NP_001078906	1	2	3	2.111737	Q08AI8	CB054_HUMAN		3	917	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	1	1	hg19	c.759G>A	CCDS42839.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_024861, NM_001085437			54	53		281	275	1		1	1		0	0	53	0		1	4.441862e-01	0	4	0	5	0	54	281
SNED1	25992	broad.mit.edu	37	2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	475	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			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)		TGTGAGTGCCGCAACGGAGGC	0.637																																						ENST00000310397.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1423-1425)cGc>cAc		sushi, nidogen and EGF-like domains 1							44.0	55.0	52.0					2																	241988103		2065	4204	6269	SO:0001583	missense	25992	0	0					g.chr2:241988103G>A	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.1424G>A	chr2.hg19:g.241988103G>A	ENSP00000308893:p.Arg475His	1					SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H	p.R475H	NM_001080437.1	NP_001073906.1	1	2	3	2.111737	Q8TER0	SNED1_HUMAN		10	1424	+		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)	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	1	1	hg19	c.1424G>A	CCDS46562.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626007|2.626007	0.46840|0.46840	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	4.81|4.81	3.01|3.01	0.34805|0.34805	4.81|4.81	3.01|3.01	0.34805|0.34805	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.78801|0.78801	2.425|2.425	0.33775|0.33775	D|D	0.623493|0.623493	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.76984|0.76984	-0.2756|-0.2756	5|10	.|0.20046	.|T	.|0.44	.|.	10.5754|10.5754	0.45225|0.45225	0.16:0.0:0.84:0.0|0.16:0.0:0.84:0.0	.|.	.|475	.|Q8TER0	.|SNED1_HUMAN	T|H	133|475	.|ENSP00000384871:R475H;ENSP00000386007:R475H;ENSP00000308893:R475H;ENSP00000342992:R475H	.|ENSP00000308893:R475H	A|R	+|+	1|2	0|0	0|0	SNED1|SNED1	241636776|241636776	241636776|241636776	0.913000|0.913000	0.31002|0.31002	0.525000|0.525000	0.27900|0.27900	0.212000|0.212000	0.24457|0.24457	1.302000|1.302000	0.33459|0.33459	0.455000|0.455000	0.26910|0.26910	0.563000|0.563000	0.77884|0.77884	GCA|CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	XM_059482			29	29		81	78	1		1	1		0	0	13	0		1	9.999923e-01	0	9	0	50	0	29	81
PASK	23178	broad.mit.edu	37	2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000475666.1_5'UTR	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	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.R1120C(2)		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)		TCCTTCAAGCGCAGGTATCCC	0.458																																						ENST00000405260.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R1120C(2)	prostate(2)	53						c.(3358-3360)Cgc>Tgc		PAS domain containing serine/threonine kinase							69.0	63.0	65.0					2																	242051830		2203	4300	6503	SO:0001583	missense	23178	0	0					g.chr2:242051830G>A	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.3358C>T	chr2.hg19:g.242051830G>A	ENSP00000384016:p.Arg1120Cys	1					PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C	p.R1120C	NM_001252120.1	NP_001239049.1	1	2	3	2.111737	Q96RG2	PASK_HUMAN		15	4056	-		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)	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	1	1	hg19	c.3358C>T	CCDS2545.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158454	0.57368	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	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);	0.236607	0.29730	N	0.011349	T	0.73776	0.3630	L	0.37697	1.125	0.47737	D	0.999505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.75121	-0.3429	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	1085;934;1127;1120	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1120;934;1120;1127;904	ENSP00000234040:R1120C;ENSP00000441374:R934C;ENSP00000384016:R1120C;ENSP00000351475:R1127C;ENSP00000443083:R904C	ENSP00000234040:R1120C	R	-	1	0	0	PASK	241700503	241700503	1.000000	0.71417	0.926000	0.36857	0.043000	0.13939	7.039000	0.76544	2.744000	0.94065	0.655000	0.94253	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_015148			57	55		162	160	1		1	1		0	0	38	0		1	8.838429e-01	0	2	0	11	0	57	162
PASK	23178	broad.mit.edu	37	2	242062165	242062165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000405260.1	-	12	3752	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000403638.3_Silent_p.D1018D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1018	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)			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)		TTTTTTCCTTGTCCACAGCAG	0.602																																						ENST00000405260.1	1.000000	0.750000	1	8.700000e-01	0.990000	0.954525	0.990000	1.000000																										0				53						c.(3052-3054)gaC>gaT		PAS domain containing serine/threonine kinase							87.0	94.0	91.0					2																	242062165		2203	4300	6503	SO:0001819	synonymous_variant	23178	0	0					g.chr2:242062165G>A	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.3054C>T	chr2.hg19:g.242062165G>A		1					PASK_ENST00000403638.3_Silent_p.D1018D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D	p.D1018D	NM_001252120.1	NP_001239049.1	1	2	3	2.111737	Q96RG2	PASK_HUMAN		12	3752	-		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)	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	1	1	hg19	c.3054C>T	CCDS2545.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-12.405900	1	0.170000	NM_015148			51	48		597	584	0		1	0		0	0	118	0		1	2.795150e-01	0	0	0	13	0	51	597
PASK	23178	broad.mit.edu	37	2	242079416	242079416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000405260.1	-	4	1182	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Silent_p.L162L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	162	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAATCAGGTCCTGGCTG	0.587																																						ENST00000405260.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(484-486)Ctg>Ttg		PAS domain containing serine/threonine kinase							64.0	53.0	57.0					2																	242079416		2203	4300	6503	SO:0001819	synonymous_variant	23178	0	0					g.chr2:242079416G>A	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.484C>T	chr2.hg19:g.242079416G>A		1					PASK_ENST00000403638.3_Silent_p.L162L|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L	p.L162L	NM_001252120.1	NP_001239049.1	1	2	3	2.111737	Q96RG2	PASK_HUMAN		4	1182	-		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)	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	1	1	hg19	c.484C>T	CCDS2545.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_015148			38	38		174	172	1		1	1		0	0	35	0		1	5.050897e-01	0	2	0	7	0	38	174
PASK	23178	broad.mit.edu	37	2	242080137	242080137	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000405260.1	-	3	926	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Silent_p.S76S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	76					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGCAGCCAGTGATGATAGAC	0.542																																						ENST00000405260.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(226-228)tcA>tcG		PAS domain containing serine/threonine kinase							65.0	66.0	65.0					2																	242080137		2203	4300	6503	SO:0001819	synonymous_variant	23178	0	0					g.chr2:242080137T>C	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.228A>G	chr2.hg19:g.242080137T>C		1					PASK_ENST00000403638.3_Silent_p.S76S|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S	p.S76S	NM_001252120.1	NP_001239049.1	1	2	3	2.111737	Q96RG2	PASK_HUMAN		3	926	-		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)	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	1	1	hg19	c.228A>G	CCDS2545.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015148			58	57		243	241	1		1	1		0	0	37	0		1	3.317632e-01	0	2	0	4	0	58	243
PPP1R7	5510	broad.mit.edu	37	2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M	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	323					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)			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)		AGCCAGGAGCCTGGAGACAGT	0.597																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6	1.000000	0.300000	7.000000e-01	4.000000e-01	0.520000	0.564401	0.520000	0.490000																										0				23						c.(967-969)Ctg>Atg		protein phosphatase 1, regulatory subunit 7							121.0	114.0	116.0					2																	242122122		2203	4300	6503	SO:0001583	missense	5510	0	0					g.chr2:242122122C>A	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.967C>A	chr2.hg19:g.242122122C>A	ENSP00000234038:p.Leu323Met	1					PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M	p.L323M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	1	2	3	2.111737	Q15435	PP1R7_HUMAN		10	1441	+		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)	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	1	1	hg19	c.967C>A	CCDS2546.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410388|4.410388	0.83340|0.83340	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.19|5.19	5.19|5.19	0.71726|0.71726	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81394|0.81394	0.4813|0.4813	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.992;0.982;0.994|.	D|D	0.85414|0.85414	0.1139|0.1139	10|5	0.66056|.	D|.	0.02|.	-9.5125|-9.5125	11.7306|11.7306	0.51735|0.51735	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	264;280;323|.	C9J177;Q15435-2;Q15435|.	.;.;PP1R7_HUMAN|.	M|H	264;323;280;323|44	ENSP00000412092:L264M;ENSP00000385657:L323M;ENSP00000272983:L280M;ENSP00000234038:L323M|.	ENSP00000234038:L323M|.	L|P	+|+	1|2	2|0	2|0	PPP1R7|PPP1R7	241770795|241770795	241770795|241770795	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	4.465000|4.465000	0.60141|0.60141	2.417000|2.417000	0.82017|0.82017	0.467000|0.467000	0.42956|0.42956	CTG|CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-16.723420	1	0.170000	NM_002712			17	17		414	408	0		1	1		0	0	77	0		9.999627e-01	9.987260e-01	0	6	0	259	0	17	414
ANO7	50636	broad.mit.edu	37	2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	546					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)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647																																						ENST00000274979.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1636-1638)aGc>aAc		anoctamin 7							106.0	90.0	95.0					2																	242149899		2203	4300	6503	SO:0001583	missense	50636	0	0					g.chr2:242149899G>A	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.1637G>A	chr2.hg19:g.242149899G>A	ENSP00000274979:p.Ser546Asn	1					ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	p.S546N	NM_001001891.3	NP_001001891.2	1	2	3	2.111737	Q6IWH7	ANO7_HUMAN		15	1740	+			Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	1	1	hg19	c.1637G>A	CCDS33423.1	1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325705	0.24080	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.65364	-0.15;-0.15	3.49	-0.713	0.11223	3.49	-0.713	0.11223	.	0.271180	0.33534	N	0.004817	T	0.45915	0.1366	L	0.37897	1.145	0.28974	N	0.889087	B	0.22080	0.064	B	0.29942	0.109	T	0.36383	-0.9750	10	0.16420	T	0.52	.	8.2936	0.31971	0.5136:0.0:0.4864:0.0	.	546	Q6IWH7	ANO7_HUMAN	N	546;545	ENSP00000274979:S546N;ENSP00000385418:S545N	ENSP00000274979:S546N	S	+	2	0	0	ANO7	241798572	241798572	0.520000	0.26250	0.053000	0.19242	0.273000	0.26683	0.728000	0.26013	-0.134000	0.11516	0.313000	0.20887	AGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_001001891			83	82		388	384	1		1			0	0	73	0		1	0	0	0	0	0	0	83	388
ANO7	50636	broad.mit.edu	37	2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A	rs545708893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	675					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)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		3913	0.0		0.0	False		,,,				2504	0.001					ENST00000274979.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2023-2025)cGc>cAc		anoctamin 7							62.0	70.0	68.0					2																	242155543		2203	4300	6503	SO:0001583	missense	50636	3	121382	34				g.chr2:242155543G>A	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.2024G>A	chr2.hg19:g.242155543G>A	ENSP00000274979:p.Arg675His	1					ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	p.R675H	NM_001001891.3	NP_001001891.2	1	2	3	2.111737	Q6IWH7	ANO7_HUMAN		19	2127	+			Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	1	1	hg19	c.2024G>A	CCDS33423.1	1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067185	0.20067	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.2	-1.18	0.09617	3.2	-1.18	0.09617	.	.	.	.	.	T	0.53238	0.1784	M	0.66506	2.035	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47522	-0.9111	9	0.44086	T	0.13	.	4.0495	0.09788	0.3427:0.343:0.3142:0.0	.	675	Q6IWH7	ANO7_HUMAN	H	675;674	ENSP00000274979:R675H;ENSP00000385418:R674H	ENSP00000274979:R675H	R	+	2	0	0	ANO7	241804216	241804216	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-1.133000	0.03232	-0.258000	0.09446	-0.363000	0.07495	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_001001891			89	89		397	392	1		1			0	0	68	0		1	0	0	0	0	0	0	89	397
HDLBP	3069	broad.mit.edu	37	2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13. {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.G1069W(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)		CCCTTTCTCCCGATAATCTTG	0.473																																						ENST00000391975.1	1.000000	0.190000	5.000000e-01	2.600000e-01	0.360000	0.418034	0.360000	0.340000																										1	Substitution - Missense(1)	p.G1069W(1)	lung(1)	44						c.(3205-3207)Ggg>Agg		high density lipoprotein binding protein							171.0	155.0	161.0					2																	242173318		2203	4300	6503	SO:0001583	missense	3069	1	121412	30				g.chr2:242173318C>T		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.3205G>A	chr2.hg19:g.242173318C>T	ENSP00000375836:p.Gly1069Arg	1					HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	p.G1069R	NM_203346.3	NP_976221	1	2	3	2.111737	Q00341	VIGLN_HUMAN		24	3432	-		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)	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	1	1	hg19	c.3205G>A	CCDS2547.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	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	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	0|0	HDLBP|HDLBP	241821991|241821991	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	0	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-2.177644	0	0.170000	NM_203346			13	13		472	461	0		1	1		0	0	99	0		9.994700e-01	1	0	86	0	1652	0	13	472
HDLBP	3069	broad.mit.edu	37	2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	496	KH 5. {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)			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)		GCTCCAGCAGCTCTCGCTTGG	0.597																																						ENST00000391975.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1486-1488)gaG>gaT		high density lipoprotein binding protein							117.0	93.0	101.0					2																	242189280		2203	4300	6503	SO:0001583	missense	3069	0	0					g.chr2:242189280C>A		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.1488G>T	chr2.hg19:g.242189280C>A	ENSP00000375836:p.Glu496Asp	1					HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000476807.1_5'UTR	p.E496D	NM_203346.3	NP_976221	1	2	3	2.111737	Q00341	VIGLN_HUMAN		12	1715	-		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)	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	1	1	hg19	c.1488G>T	CCDS2547.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929068|3.929068	0.73327|0.73327	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.76|5.76	0.977|0.977	0.19733|0.19733	5.76|5.76	0.977|0.977	0.19733|0.19733	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28378	.|0.032;0.209	.|B;B	.|0.40477	.|0.33;0.248	T|T	0.45891|0.45891	-0.9230|-0.9230	5|10	.|0.56958	.|D	.|0.05	-44.6837|-44.6837	10.083|10.083	0.42401|0.42401	0.0:0.6771:0.0:0.3229|0.0:0.6771:0.0:0.3229	.|.	.|463;496	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	S|D	305|496;496;496;463	.|ENSP00000375836:E496D;ENSP00000375837:E496D;ENSP00000312042:E496D;ENSP00000399139:E463D	.|ENSP00000312042:E496D	A|E	-|-	1|3	0|2	0|2	HDLBP|HDLBP	241837953|241837953	241837953|241837953	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	2.634000|2.634000	0.46528|0.46528	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	GCT|GAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_203346			113	112		310	307	1		1	1		0	0	71	0		1	1	0	494	0	992	0	113	310
HDLBP	3069	broad.mit.edu	37	2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	449	KH 5. {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)			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)		CCCAATGAGGTGCCTGTGGAA	0.572																																						ENST00000391975.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1345-1347)cAc>cGc		high density lipoprotein binding protein							196.0	156.0	170.0					2																	242192398		2203	4300	6503	SO:0001583	missense	3069	0	0					g.chr2:242192398T>C		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.1346A>G	chr2.hg19:g.242192398T>C	ENSP00000375836:p.His449Arg	1					HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000476807.1_5'Flank	p.H449R	NM_203346.3	NP_976221	1	2	3	2.111737	Q00341	VIGLN_HUMAN		11	1573	-		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)	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	1	1	hg19	c.1346A>G	CCDS2547.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.885819|4.885819	0.91814|0.91814	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59211|0.59211	0.2177|0.2177	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.56177|0.56177	-0.8022|-0.8022	10|5	0.72032|.	D|.	0.01|.	-31.8082|-31.8082	14.4589|14.4589	0.67435|0.67435	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	416;449|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|A	449;449;449;416|327	ENSP00000375836:H449R;ENSP00000375837:H449R;ENSP00000312042:H449R;ENSP00000399139:H416R|.	ENSP00000312042:H449R|.	H|T	-|-	2|1	0|0	0|0	HDLBP|HDLBP	241841071|241841071	241841071|241841071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.247000|7.247000	0.78257|0.78257	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CAC|ACC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_203346			128	128		353	349	1		1	1		0	0	97	0		1	1	0	441	0	826	0	128	353
MFSD2B	388931	broad.mit.edu	37	2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000406420.3	+	2	195	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	60					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557																																						ENST00000406420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(178-180)gCc>gAc		major facilitator superfamily domain containing 2B							53.0	54.0	54.0					2																	24236237		1981	4154	6135	SO:0001583	missense	388931	0	0					g.chr2:24236237C>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.179C>A	chr2.hg19:g.24236237C>A	ENSP00000385527:p.Ala60Asp	1					MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	p.A60D	NM_001080473.1	NP_001073942.1	1	2	3	2.183349	A6NFX1	MFS2B_HUMAN		2	195	+			B5MC32	Missense_Mutation	SNP	ENST00000406420.3	1	1	hg19	c.179C>A	CCDS46228.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510031	0.85282	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.81739	-1.53;-1.53	5.34	5.34	0.76211	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	U	0.000000	D	0.90055	0.6894	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91059	0.4884	10	0.87932	D	0	-23.2717	16.9131	0.86144	0.0:1.0:0.0:0.0	.	60	A6NFX1	MFS2B_HUMAN	D	60	ENSP00000385527:A60D;ENSP00000342501:A60D	ENSP00000342501:A60D	A	+	2	0	0	MFSD2B	24089741	24089741	1.000000	0.71417	0.990000	0.47175	0.674000	0.39518	6.388000	0.73195	2.677000	0.91161	0.462000	0.41574	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_001080473			23	20		67	67	1		1			0	0	20	0		9.999997e-01	0	0	0	0	0	0	23	67
MFSD2B	388931	broad.mit.edu	37	2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000406420.3	+	3	248	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	78					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612																																						ENST00000406420.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999928	0.990000	1.000000																										0				10						c.(232-234)Gcc>Acc		major facilitator superfamily domain containing 2B							61.0	63.0	62.0					2																	24239035		1944	4145	6089	SO:0001583	missense	388931	2	120872	33				g.chr2:24239035G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.232G>A	chr2.hg19:g.24239035G>A	ENSP00000385527:p.Ala78Thr	1					MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	p.A78T	NM_001080473.1	NP_001073942.1	1	2	3	2.183349	A6NFX1	MFS2B_HUMAN		3	248	+			B5MC32	Missense_Mutation	SNP	ENST00000406420.3	1	1	hg19	c.232G>A	CCDS46228.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152068	0.38021	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89617	-2.54;-2.54	5.42	4.49	0.54785	5.42	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	1.084960	0.07103	U	0.840727	D	0.83459	0.5259	L	0.34521	1.04	0.27780	N	0.943183	B	0.32829	0.386	B	0.26202	0.067	T	0.74890	-0.3510	10	0.66056	D	0.02	-23.4313	10.9067	0.47084	0.0:0.0:0.7049:0.2951	.	78	A6NFX1	MFS2B_HUMAN	T	78	ENSP00000385527:A78T;ENSP00000342501:A78T	ENSP00000342501:A78T	A	+	1	0	0	MFSD2B	24092539	24092539	0.956000	0.32656	1.000000	0.80357	0.129000	0.20672	2.539000	0.45718	2.721000	0.93114	0.511000	0.50034	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.841774	1	0.170000	NM_001080473			41	39		286	282	1		1			0	0	58	0		1	0	0	0	0	0	0	41	286
MFSD2B	388931	broad.mit.edu	37	2	24239805	24239805	+	Silent	SNP	G	G	A	rs554518996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000406420.3	+	4	454	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000338315.4_Silent_p.T146T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	146					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.001		0.0	False		,,,				2504	0.0					ENST00000406420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(436-438)acG>acA		major facilitator superfamily domain containing 2B							66.0	71.0	70.0					2																	24239805		2024	4170	6194	SO:0001819	synonymous_variant	388931	2	120948	33				g.chr2:24239805G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.438G>A	chr2.hg19:g.24239805G>A		1					MFSD2B_ENST00000338315.4_Silent_p.T146T	p.T146T	NM_001080473.1	NP_001073942.1	1	2	3	2.183349	A6NFX1	MFS2B_HUMAN		4	454	+			B5MC32	Silent	SNP	ENST00000406420.3	1	1	hg19	c.438G>A	CCDS46228.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_001080473			55	54		312	309	1		1			0	0	63	0		1	0	0	0	0	0	0	55	312
SEPT2	4735	broad.mit.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348																																						ENST00000391973.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(640-642)cCt>cAt		septin 2							109.0	117.0	115.0					2																	242282453		2203	4300	6503	SO:0001583	missense	4735	0	0					g.chr2:242282453C>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>A	chr2.hg19:g.242282453C>A	ENSP00000375834:p.Pro214His	1					SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H	p.P214H	NM_006155.1	NP_006146.1	1	2	3	2.111737	Q15019	SEPT2_HUMAN		8	1169	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	1	1	hg19	c.641C>A	CCDS2548.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.261942	0.95368	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	0.51;0.51;0.51;0.51;0.51;-1.28;0.51;-1.28	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.975;0.985	D	0.95128	0.8252	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	H	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214H;ENSP00000397195:P174H;ENSP00000353157:P214H;ENSP00000375832:P214H;ENSP00000385109:P224H;ENSP00000384525:P174H;ENSP00000385172:P214H;ENSP00000408296:P69H	ENSP00000353157:P214H	P	+	2	0	0	SEPT2	241931126	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-2.880416	1	0.170000	NM_006155			86	85		477	461	1		1	1		0	0	135	0		1	1	0	158	0	689	0	86	477
FARP2	9855	broad.mit.edu	37	2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	745					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)			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)		GACCTGGTGGGCATAGAGAAC	0.498																																						ENST00000264042.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				43						c.(2233-2235)gGc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							97.0	84.0	88.0					2																	242415374		2203	4300	6503	SO:0001583	missense	9855	0	0					g.chr2:242415374G>A	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.2234G>A	chr2.hg19:g.242415374G>A	ENSP00000264042:p.Gly745Asp	1					MIR3133_ENST00000583157.1_RNA	p.G745D	NM_014808.2	NP_055623.1	1	2	3	2.111737	O94887	FARP2_HUMAN		19	2404	+		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)	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	1	1	hg19	c.2234G>A	CCDS33424.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025654	0.75390	.	.	ENSG00000006607	ENST00000264042	T	0.51574	0.7	5.3	5.3	0.74995	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	745	O94887	FARP2_HUMAN	D	745	ENSP00000264042:G745D	ENSP00000264042:G745D	G	+	2	0	0	FARP2	242064047	242064047	1.000000	0.71417	0.629000	0.29254	0.404000	0.30871	9.081000	0.94049	2.485000	0.83878	0.563000	0.77884	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-17.783970	1	0.170000				35	32		205	198	1		1	1		0	0	49	0		1	8.297181e-01	0	6	0	15	0	35	205
STK25	10494	broad.mit.edu	37	2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.V223I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(667-669)Gtc>Atc		serine/threonine kinase 25							70.0	78.0	76.0					2																	242438508		2203	4300	6503	SO:0001583	missense	10494	0	0					g.chr2:242438508C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.667G>A	chr2.hg19:g.242438508C>T	ENSP00000325748:p.Val223Ile	1					STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	p.V223I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	1	2	3	2.111737	O00506	STK25_HUMAN		7	1016	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	1	1	hg19	c.667G>A	CCDS2549.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987877	0.74589	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.29	5.29	0.74685	5.29	5.29	0.74685	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	0.64427	0.2597	N	0.10629	0.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.979;0.998	D;D;D;D	0.69824	0.966;0.934;0.935;0.935	T	0.73487	-0.3967	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	149;146;223;129	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	I	223;223;223;146;129;146;129;129;129;127;129;129	ENSP00000325748:V223I;ENSP00000384162:V223I;ENSP00000385687:V223I;ENSP00000384444:V146I;ENSP00000385541:V146I;ENSP00000444886:V129I;ENSP00000446008:V129I;ENSP00000399212:V129I;ENSP00000417020:V127I;ENSP00000403607:V129I;ENSP00000395104:V129I	ENSP00000325748:V223I	V	-	1	0	0	STK25	242087181	242087181	1.000000	0.71417	0.624000	0.29186	0.046000	0.14306	7.583000	0.82559	2.637000	0.89404	0.655000	0.94253	GTC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_006374			83	80		270	264	1		1	1		0	0	45	0		1	1	0	148	0	245	0	83	270
STK25	10494	broad.mit.edu	37	2	242441007	242441007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405585.1_Intron|STK25_ENST00000405883.3_Intron|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000401869.1_Silent_p.K49K	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(145-147)aaG>aaA		serine/threonine kinase 25							220.0	159.0	180.0					2																	242441007		2203	4300	6503	SO:0001819	synonymous_variant	10494	0	0					g.chr2:242441007C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.147G>A	chr2.hg19:g.242441007C>T		1					STK25_ENST00000405585.1_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR	p.K49K	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	1	2	3	2.111737	O00506	STK25_HUMAN		3	496	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	1	1	hg19	c.147G>A	CCDS2549.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	1	0	1		2	2	2	0		0	0	61		61	58	1	2.060000	-20.000000	1	0.170000	NM_006374			79	78		335	333	0		1	1		0	0	61	0		1	1	0	49	0	237	0	79	335
THAP4	51078	broad.mit.edu	37	2	242572459	242572459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	371							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617																																						ENST00000407315.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1111-1113)ggC>ggT		THAP domain containing 4							44.0	45.0	45.0					2																	242572459		2203	4296	6499	SO:0001819	synonymous_variant	51078	1	121410	30				g.chr2:242572459G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1113C>T	chr2.hg19:g.242572459G>A		1						p.G371G	NM_015963.5	NP_057047.4	1	2	3	2.111737	Q8WY91	THAP4_HUMAN		2	1544	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	1	1	hg19	c.1113C>T	CCDS2551.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_015963			40	38		165	163	1		1	1		0	0	48	0		1	1	0	68	0	235	0	40	165
THAP4	51078	broad.mit.edu	37	2	242572744	242572744	+	Silent	SNP	G	G	A	rs575990048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	276							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17254	0.0		0.0	False		,,,				2504	0.001					ENST00000407315.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(826-828)ccC>ccT		THAP domain containing 4							73.0	80.0	77.0					2																	242572744		2203	4296	6499	SO:0001819	synonymous_variant	51078	16	121412	45				g.chr2:242572744G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.828C>T	chr2.hg19:g.242572744G>A		1						p.P276P	NM_015963.5	NP_057047.4	1	2	3	2.111737	Q8WY91	THAP4_HUMAN		2	1259	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	1	1	hg19	c.828C>T	CCDS2551.1	1																																																																																								2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-6.609832	1	0.170000	NM_015963			192	189		553	544	1		1	1		0	0	99	0		1	1	0	112	0	172	0	192	553
C2orf44	80304	broad.mit.edu	37	2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000295148.4	-	2	1204	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	383									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)					TCAGTGTTCTCTAATCGAATT	0.373			T	ALK	NSCLC																																	ENST00000295148.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p23.3	2p23.3	80304	T	chromosome 2 open reading frame 44				E	E	ALK		NSCLC	C2orf44/ALK(2)	0				24						c.(1147-1149)Gag>Tag		chromosome 2 open reading frame 44							82.0	87.0	85.0					2																	24261218		2203	4300	6503	SO:0001587	stop_gained	80304	0	0					g.chr2:24261218C>A	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.1147G>T	chr2.hg19:g.24261218C>A	ENSP00000295148:p.Glu383*	1					C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	p.E383*	NM_025203.2	NP_079479.1	1	2	3	2.183349	Q9H6R7	CB044_HUMAN		2	1204	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		D6W532|Q8IYK0|Q9HBP5	Nonsense_Mutation	SNP	ENST00000295148.4	0	1	hg19	c.1147G>T	CCDS1705.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728379	0.89390	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.101360	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6847	19.5062	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000295148:E383X	E	-	1	0	0	C2orf44	24114722	24114722	1.000000	0.71417	0.882000	0.34594	0.688000	0.40055	4.782000	0.62396	2.701000	0.92244	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-2.968557	1	0.170000	NM_025203			127	123		576	567	1		1	0		0	0	102	0		1	9.825671e-01	0	1	0	30	0	127	576
THAP4	51078	broad.mit.edu	37	2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	96							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647																																						ENST00000407315.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(286-288)gGc>gAc		THAP domain containing 4							86.0	90.0	89.0					2																	242573285		2203	4296	6499	SO:0001583	missense	51078	0	0					g.chr2:242573285C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.287G>A	chr2.hg19:g.242573285C>T	ENSP00000385006:p.Gly96Asp	1						p.G96D	NM_015963.5	NP_057047.4	1	2	3	2.111737	Q8WY91	THAP4_HUMAN		2	718	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	1	1	hg19	c.287G>A	CCDS2551.1	1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491997	0.26774	.	.	ENSG00000176946	ENST00000407315	D	0.95518	-3.73	4.93	4.02	0.46733	4.93	4.02	0.46733	.	4.361770	0.00654	N	0.000576	D	0.90854	0.7127	N	0.19112	0.55	0.20926	N	0.999825	B	0.10296	0.003	B	0.08055	0.003	T	0.80037	-0.1550	10	0.27785	T	0.31	-16.158	5.5193	0.16923	0.0:0.6659:0.2012:0.1329	.	96	Q8WY91	THAP4_HUMAN	D	96	ENSP00000385006:G96D	ENSP00000385006:G96D	G	-	2	0	0	THAP4	242221958	242221958	0.964000	0.33143	0.122000	0.21767	0.989000	0.77384	1.921000	0.40035	1.142000	0.42291	0.655000	0.94253	GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1		2	2	2	0		0	0	140		140	137	1	2.060000	-20.000000	1	0.170000	NM_015963			238	238		598	588	1		1	1		0	0	140	0		1	1	0	92	0	123	0	238	598
ING5	84289	broad.mit.edu	37	2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Missense_Mutation_p.Q69H	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	69					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577																																						ENST00000313552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(205-207)caG>caT		inhibitor of growth family, member 5							130.0	128.0	129.0					2																	242648728		2203	4296	6499	SO:0001583	missense	84289	0	0					g.chr2:242648728G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.207G>T	chr2.hg19:g.242648728G>T	ENSP00000322142:p.Gln69His	1					ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	p.Q69H	NM_032329.4	NP_115705.2	1	2	3	2.111737	Q8WYH8	ING5_HUMAN		3	233	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	1	1	hg19	c.207G>T	CCDS33425.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497018	0.85069	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.968	D	0.87282	0.2293	9	0.72032	D	0.01	-2.5677	19.9111	0.97025	0.0:0.0:1.0:0.0	.	69;69	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	69	.	ENSP00000322142:Q69H	Q	+	3	2	2	ING5	242297401	242297401	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.745000	0.55119	2.722000	0.93159	0.591000	0.81541	CAG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	1	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-20.000000	1	0.170000	NM_032329			228	223		596	585	1		1	1		0	0	159	0		1	9.997162e-01	0	9	0	25	0	228	596
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398																																						ENST00000313552.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(376-378)Cga>Tga		inhibitor of growth family, member 5							119.0	135.0	130.0					2																	242650891		2203	4296	6499	SO:0001587	stop_gained	84289	0	0					g.chr2:242650891C>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.376C>T	chr2.hg19:g.242650891C>T	ENSP00000322142:p.Arg126*	1					ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	p.R126*	NM_032329.4	NP_115705.2	1	2	3	2.111737	Q8WYH8	ING5_HUMAN		4	402	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	A8K1P3|Q53NU6|Q57Z54|Q9BS30	Nonsense_Mutation	SNP	ENST00000313552.6	0	1	hg19	c.376C>T	CCDS33425.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	2	ING5	242299564	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_032329			119	116		442	427	1		1	0		0	0	146	0		1	9.920536e-01	0	0	0	30	0	119	442
D2HGDH	728294	broad.mit.edu	37	2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A	rs374397125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	152	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCACTGCCCGCATGAACCGG	0.642																																						ENST00000321264.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(454-456)cGc>cAc		D-2-hydroxyglutarate dehydrogenase		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	81.0	88.0		455	3.9	1.0	2		88	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	152/522	242681954	1,12997	2203	4296	6499	SO:0001583	missense	728294	5	121412	43				g.chr2:242681954G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.455G>A	chr2.hg19:g.242681954G>A	ENSP00000315351:p.Arg152His	1					D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	p.R152H	NM_152783.3	NP_689996.4	1	2	3	2.111737	Q8N465	D2HDH_HUMAN		4	664	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	1	1	hg19	c.455G>A	CCDS33426.1	1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196304	0.38806	2.27E-4	0.0	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.01	5.06	3.89	0.44902	5.06	3.89	0.44902	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.069723	0.64402	D	0.000014	D	0.94515	0.8234	M	0.75264	2.295	0.35735	D	0.818244	P	0.36144	0.539	B	0.32762	0.152	D	0.93942	0.7224	10	0.37606	T	0.19	.	12.0727	0.53626	0.0:0.0:0.1466:0.8534	.	152	Q8N465	D2HDH_HUMAN	H	152;152;18;152;36;22	ENSP00000442796:R152H;ENSP00000315351:R152H;ENSP00000384723:R18H;ENSP00000339536:R152H;ENSP00000412511:R36H;ENSP00000404596:R22H	ENSP00000315351:R152H	R	+	2	0	0	D2HGDH	242330627	242330627	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.589000	0.61006	0.776000	0.33473	-0.425000	0.05940	CGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.044101	1	0.170000	NM_152783			51	50		260	256	1		1	1		0	0	53	0		1	9.989325e-01	0	14	0	41	0	51	260
D2HGDH	728294	broad.mit.edu	37	2	242689694	242689694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242689694G>A	ENST00000321264.4	+	7	1191	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	328					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCTCCACCTGGCCAGCCCGGT	0.632																																						ENST00000321264.4	1.000000	0.130000	4.200000e-01	1.900000e-01	0.280000	0.347170	0.280000	0.260000																										0				16						c.(982-984)Gcc>Acc		D-2-hydroxyglutarate dehydrogenase							67.0	65.0	66.0					2																	242689694		2203	4296	6499	SO:0001583	missense	728294	0	0					g.chr2:242689694G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.982G>A	chr2.hg19:g.242689694G>A	ENSP00000315351:p.Ala328Thr	1					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T	p.A328T	NM_152783.3	NP_689996.4	1	2	3	2.111737	Q8N465	D2HDH_HUMAN		7	1191	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	0	1	hg19	c.982G>A	CCDS33426.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.019|6.019	0.371815|0.371815	0.11409|0.11409	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782|ENST00000432449	T;T|.	0.78481|.	-1.18;-1.18|.	4.63|4.63	-1.65|-1.65	0.08291|0.08291	4.63|4.63	-1.65|-1.65	0.08291|0.08291	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.870325|.	0.10087|.	N|.	0.717627|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01168|0.01168	-0.975|-0.975	0.33050|0.33050	D|D	0.532612|0.532612	B|.	0.02656|.	0.0|.	B|.	0.11329|.	0.006|.	T|T	0.35450|0.35450	-0.9788|-0.9788	10|5	0.16420|.	T|.	0.52|.	-1.4511|-1.4511	4.8409|4.8409	0.13489|0.13489	0.4608:0.0:0.1949:0.3443|0.4608:0.0:0.1949:0.3443	.|.	328|.	Q8N465|.	D2HDH_HUMAN|.	T|D	328;194|81	ENSP00000315351:A328T;ENSP00000384723:A194T|.	ENSP00000315351:A328T|.	A|G	+|+	1|2	0|0	0|0	D2HGDH|D2HGDH	242338367|242338367	242338367|242338367	0.000000|0.000000	0.05858|0.05858	0.810000|0.810000	0.32431|0.32431	0.501000|0.501000	0.33797|0.33797	-1.055000|-1.055000	0.03493|0.03493	-0.177000|-0.177000	0.10690|0.10690	0.491000|0.491000	0.48974|0.48974	GCC|GGC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	0	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-2.842951	1	0.170000	NM_152783			9	7		432	423	0		1	1		0	0	63	0		9.935610e-01	4.070455e-01	0	2	0	61	0	9	432
D2HGDH	728294	broad.mit.edu	37	2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	433					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGGCTATGGCCACCTTGGT	0.701																																						ENST00000321264.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1297-1299)gGc>gAc		D-2-hydroxyglutarate dehydrogenase							41.0	37.0	38.0					2																	242695421		2202	4294	6496	SO:0001583	missense	728294	0	0					g.chr2:242695421G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1298G>A	chr2.hg19:g.242695421G>A	ENSP00000315351:p.Gly433Asp	1					D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D	p.G433D	NM_152783.3	NP_689996.4	1	2	3	2.111737	Q8N465	D2HDH_HUMAN		9	1507	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	1	1	hg19	c.1298G>A	CCDS33426.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.8|24.8|24.8	4.572822|4.572822|4.572822	0.86542|0.86542|0.86542	.|.|.	.|.|.	ENSG00000180902|ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211|ENST00000432449	.|D;D|.	.|0.86694|.	.|-2.16;-2.16|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	.|0.125811|.	.|0.53938|.	.|D|.	.|0.000052|.	D|D|.	0.90345|0.90345|.	0.6979|0.6979|.	H|H|H	0.97732|0.97732|0.97732	4.065|4.065|4.065	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|.	0.93703|0.93703|.	0.7017|0.7017|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	0.004|0.004|0.004	18.9757|18.9757|18.9757	0.92735|0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|433|.	.|Q8N465|.	.|D2HDH_HUMAN|.	T|D|X	232|433;299;53|186	.|ENSP00000315351:G433D;ENSP00000384723:G299D|.	.|ENSP00000315351:G433D|.	A|G|W	+|+|+	1|2|3	0|0|0	0|0|0	D2HGDH|D2HGDH|D2HGDH	242344094|242344094|242344094	242344094|242344094|242344094	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.464000|0.464000|0.464000	0.32679|0.32679|0.32679	8.597000|8.597000|8.597000	0.90847|0.90847|0.90847	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCC|GGC|TGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	1	0	1		2	2	2	0		0	0	47		47	44	1	2.060000	-20.000000	1	0.170000	NM_152783			72	72		337	332	0		1	1		0	0	47	0		1	9.917690e-01	0	4	0	33	0	72	337
NEU4	129807	broad.mit.edu	37	2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000405370.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Missense_Mutation_p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	17					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692																																						ENST00000391969.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(49-51)agG>agT		sialidase 4							35.0	37.0	36.0					2																	242755732		2203	4300	6503	SO:0001583	missense	129807	0	0					g.chr2:242755732G>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.51G>T	chr2.hg19:g.242755732G>T	ENSP00000375830:p.Arg17Ser	1					NEU4_ENST00000405370.1_Missense_Mutation_p.R17S|NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|AC114730.3_ENST00000420272.2_RNA	p.R17S	NM_001167602.1	NP_001161074.1	1	2	3	2.111737	Q8WWR8	NEUR4_HUMAN		3	762	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	1	1	hg19	c.51G>T	CCDS54442.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.375|0.375	-0.932103|-0.932103	0.02359|0.02359	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;D;T;T;T;T;T;D;D;T;T	.|0.83992	.|3.12;-1.79;3.12;3.12;3.12;3.12;3.12;-1.79;-1.79;3.12;3.12	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	.|Neuraminidase (2);	.|0.632273	.|0.15467	.|U	.|0.260836	T|T	0.60958|0.60958	0.2309|0.2309	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25169	.|0.073;0.119;0.069	.|B;B;B	.|0.20955	.|0.011;0.026;0.032	T|T	0.44862|0.44862	-0.9300|-0.9300	6|10	0.66056|0.13108	D|T	0.02|0.6	-18.7405|-18.7405	4.3633|4.3633	0.11213|0.11213	0.4027:0.398:0.1992:0.0|0.4027:0.398:0.1992:0.0	.|.	.|29;29;17	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	Y|S	41|17;17;17;17;29;17;30;17;29;17;58	.|ENSP00000385402:R17S;ENSP00000397167:R17S;ENSP00000384804:R17S;ENSP00000397860:R17S;ENSP00000385149:R29S;ENSP00000375830:R17S;ENSP00000320318:R30S;ENSP00000398571:R17S;ENSP00000406678:R29S;ENSP00000388707:R17S;ENSP00000396197:R58S	ENSP00000441629:D41Y|ENSP00000320318:R30S	D|R	+|+	1|3	0|2	0|2	NEU4|NEU4	242404405|242404405	242404405|242404405	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.152000|0.152000	0.21847|0.21847	-0.128000|-0.128000	0.10531|0.10531	0.100000|0.100000	0.17581|0.17581	0.443000|0.443000	0.29094|0.29094	GAC|AGG	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_080741			63	62		241	238	1		1	0		0	0	32	0		1	0	0	0	0	1	0	63	241
TSSC1	7260	broad.mit.edu	37	2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000382125.4	-	8	1169	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TSSC1_ENST00000398659.4_Missense_Mutation_p.R353H|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562													C|||	3	0.000599042	0.0	0.0	5008	,	,		21099	0.0		0.0	False		,,,				2504	0.0031				Colon(140;1261 1762 4183 34270 49743)	ENST00000382125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(976-978)cGt>cAt		tumor suppressing subtransferable candidate 1		C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	144.0	110.0	122.0		977	0.8	0.0	2	dbSNP_134	122	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TSSC1	NM_003310.2	29	0,9,6493	TT,TC,CC		0.0814,0.0454,0.0692	benign	326/388	3196197	9,12995	2202	4300	6502	SO:0001583	missense	7260	82	121406	49				g.chr2:3196197C>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.977G>A	chr2.hg19:g.3196197C>T	ENSP00000371559:p.Arg326His	1					TSSC1_ENST00000398659.4_Missense_Mutation_p.R353H|TSSC1_ENST00000478754.1_5'UTR	p.R326H	NM_003310.2	NP_003301.1	1	2	3	2.183349	Q53HC9	TSSC1_HUMAN		8	1169	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	1	1	hg19	c.977G>A	CCDS1651.1	1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439519	0.04636	4.54E-4	8.14E-4	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.83673	-1.69;-1.75;-1.22	5.55	0.785	0.18584	5.55	0.785	0.18584	WD40/YVTN repeat-like-containing domain (1);	0.480333	0.26773	N	0.022580	T	0.49813	0.1579	N	0.00926	-1.1	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	-0.7685	1.0524	0.01582	0.165:0.3348:0.1688:0.3314	.	326	Q53HC9	TSSC1_HUMAN	H	326;353;175	ENSP00000371559:R326H;ENSP00000381652:R353H;ENSP00000393350:R175H	ENSP00000371559:R326H	R	-	2	0	0	TSSC1	3175204	3175204	0.737000	0.28175	0.020000	0.16555	0.346000	0.29079	1.064000	0.30579	-0.083000	0.12618	-0.471000	0.05019	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.363227	1	0.170000	NM_003310			34	32		150	148	1		1	1		0	0	40	0		1	1	0	48	0	129	0	34	150
TSSC1	7260	broad.mit.edu	37	2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000382125.4	-	4	604	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	TSSC1_ENST00000398659.4_Missense_Mutation_p.A165S|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000382125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(412-414)Gcc>Tcc		tumor suppressing subtransferable candidate 1							89.0	80.0	83.0					2																	3261074		2203	4300	6503	SO:0001583	missense	7260	0	0					g.chr2:3261074C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.412G>T	chr2.hg19:g.3261074C>A	ENSP00000371559:p.Ala138Ser	1					TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000398659.4_Missense_Mutation_p.A165S|TSSC1_ENST00000478754.1_5'UTR	p.A138S	NM_003310.2	NP_003301.1	1	2	3	2.183349	Q53HC9	TSSC1_HUMAN		4	604	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	1	1	hg19	c.412G>T	CCDS1651.1	1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441202	0.43326	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.12774	2.65;2.65;2.65	5.59	5.59	0.84812	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28115	0.83	0.80722	D	1	B	0.28258	0.205	B	0.20955	0.032	T	0.09357	-1.0678	10	0.06891	T	0.86	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	S	138;165;138	ENSP00000371559:A138S;ENSP00000381652:A165S;ENSP00000389080:A138S	ENSP00000371559:A138S	A	-	1	0	0	TSSC1	3240081	3240081	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.297829	1	0.170000	NM_003310			51	50		208	205	1		1	1		0	0	58	0		1	1	0	68	0	67	0	51	208
COLEC11	78989	broad.mit.edu	37	2	3660908	3660908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000349077.4	+	3	241	c.138G>A	c.(136-138)gcG>gcA	p.A46A	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000236693.7_Missense_Mutation_p.R17Q|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Silent_p.A46A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	46					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGGGGATGCGGGAGAGAAGG	0.597																																						ENST00000349077.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				22						c.(136-138)gcG>gcA		collectin sub-family member 11							28.0	30.0	30.0					2																	3660908		2192	4298	6490	SO:0001819	synonymous_variant	78989	1	121268	19				g.chr2:3660908G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.138G>A	chr2.hg19:g.3660908G>A		1					COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000236693.7_Missense_Mutation_p.R17Q|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A	p.A46A	NM_024027.4	NP_076932.1	1	2	3	2.183349	Q9BWP8	COL11_HUMAN		3	241	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	1	1	hg19	c.138G>A	CCDS1649.1	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930456	0.34096	.	.	ENSG00000118004	ENST00000236693	T	0.05081	3.5	4.62	-4.24	0.03777	4.62	-4.24	0.03777	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43475	-0.9389	8	0.33940	T	0.23	-1.1399	0.8773	0.01227	0.193:0.3053:0.1738:0.3279	.	17	Q9BWP8-9	.	Q	17	ENSP00000236693:R17Q	ENSP00000236693:R17Q	R	+	2	0	0	COLEC11	3638783	3638783	0.714000	0.27936	0.810000	0.32431	0.817000	0.46193	0.010000	0.13242	-0.790000	0.04492	-1.099000	0.02127	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-12.266950	1	0.170000	NM_024027			17	17		78	77	1		1	0		0	0	15	0		9.999791e-01	1	0	0	0	174	0	17	78
ALLC	55821	broad.mit.edu	37	2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			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)		GGAGTCATCCGGGGCTTCGAC	0.552										HNSCC(21;0.051)																												ENST00000252505.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(217-219)cGg>cAg		allantoicase							152.0	162.0	159.0					2																	3727504		2119	4216	6335	SO:0001583	missense	55821	7	121104	40				g.chr2:3727504G>A	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.218G>A	chr2.hg19:g.3727504G>A	ENSP00000252505:p.Arg73Gln	1	HNSCC(21;0.051)					p.R73Q	NM_018436.3	NP_060906.3	1	2	3	2.183349	Q8N6M5	ALLC_HUMAN		5	380	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	1	1	hg19	c.218G>A	CCDS46223.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357656	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	2.92	0.33932	5.77	2.92	0.33932	Allantoicase domain (1);Galactose-binding domain-like (1);	0.384865	0.29572	N	0.011780	T	0.34135	0.0887	L	0.55743	1.74	0.31510	N	0.663645	B	0.30021	0.265	B	0.24155	0.051	T	0.29731	-1.0002	9	0.28530	T	0.3	-16.8036	3.8873	0.09103	0.2449:0.0:0.5818:0.1733	.	92	Q8N6M5	ALLC_HUMAN	Q	73	.	ENSP00000252505:R73Q	R	+	2	0	0	ALLC	3705379	3705379	0.993000	0.37304	0.953000	0.39169	0.496000	0.33645	1.576000	0.36504	0.865000	0.35603	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-4.041544	1	0.170000				139	136		461	453	1		1			0	0	93	0		1	0	0	0	0	0	0	139	461
ALLC	55821	broad.mit.edu	37	2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	292					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			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)		TGGAGTAATAACTCGAATTGA	0.368										HNSCC(21;0.051)																												ENST00000252505.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(817-819)Act>Cct		allantoicase							142.0	138.0	139.0					2																	3745013		1843	4092	5935	SO:0001583	missense	55821	0	0					g.chr2:3745013A>C	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.817A>C	chr2.hg19:g.3745013A>C	ENSP00000252505:p.Thr273Pro	1	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.T273P	NM_018436.3	NP_060906.3	1	2	3	2.183349	Q8N6M5	ALLC_HUMAN		10	979	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	1	1	hg19	c.817A>C	CCDS46223.1	1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683681	0.29872	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.46	0.54185	5.6	4.46	0.54185	Allantoicase domain (1);Galactose-binding domain-like (1);	0.292757	0.41001	D	0.000968	T	0.70159	0.3192	M	0.80746	2.51	0.39878	D	0.973603	D	0.58970	0.984	P	0.57846	0.828	T	0.72890	-0.4155	9	0.52906	T	0.07	-29.0378	9.3331	0.38034	0.9157:0.0:0.0843:0.0	.	292	Q8N6M5	ALLC_HUMAN	P	273	.	ENSP00000252505:T273P	T	+	1	0	0	ALLC	3722888	3722888	1.000000	0.71417	0.417000	0.26559	0.085000	0.17905	6.896000	0.75665	0.972000	0.38314	0.533000	0.62120	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000				64	62		426	415	1		1			0	0	96	0		1	0	0	0	0	0	0	64	426
SOX11	6664	broad.mit.edu	37	2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	10					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697																																						ENST00000322002.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.989177	0.990000	1.000000																										0				13						c.(28-30)gCg>gTg		SRY (sex determining region Y)-box 11							21.0	23.0	23.0					2																	5832882		2202	4299	6501	SO:0001583	missense	6664	0	0					g.chr2:5832882C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.29C>T	chr2.hg19:g.5832882C>T	ENSP00000322568:p.Ala10Val	1					AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	p.A10V	NM_003108.3	NP_003099.1	1	2	3	2.183349	P35716	SOX11_HUMAN		1	84	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	1	1	hg19	c.29C>T	CCDS1654.1	1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845208	0.51164	.	.	ENSG00000176887	ENST00000322002	D	0.97831	-4.56	3.18	2.15	0.27550	3.18	2.15	0.27550	.	0.438607	0.17017	U	0.190244	D	0.90038	0.6889	N	0.08118	0	0.24184	N	0.995577	P	0.35155	0.487	B	0.24155	0.051	D	0.85314	0.1080	10	0.37606	T	0.19	.	6.8925	0.24236	0.0:0.629:0.2562:0.1147	.	10	P35716	SOX11_HUMAN	V	10	ENSP00000322568:A10V	ENSP00000322568:A10V	A	+	2	0	0	SOX11	5750333	5750333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.976000	0.40579	1.455000	0.47813	0.472000	0.43445	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0		2	2	2	0		0	0	27		27	25	1	2.060000	-8.129703	1	0.170000	NM_003108			14	14		113	109	0		1	0		0	0	27	0		9.997639e-01	3.921943e-02	0	0	0	3	0	14	113
SOX11	6664	broad.mit.edu	37	2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	40					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGACCCAGACTGGTGCAA	0.632																																						ENST00000322002.3	1.000000	0.290000	8.400000e-01	4.300000e-01	0.610000	0.633788	0.610000	1.000000																										0				13						c.(118-120)Gac>Tac		SRY (sex determining region Y)-box 11							52.0	46.0	48.0					2																	5832971		2203	4300	6503	SO:0001583	missense	6664	0	0					g.chr2:5832971G>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.118G>T	chr2.hg19:g.5832971G>T	ENSP00000322568:p.Asp40Tyr	1					AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	p.D40Y	NM_003108.3	NP_003099.1	1	2	3	2.183349	P35716	SOX11_HUMAN		1	173	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	0	1	hg19	c.118G>T	CCDS1654.1	0	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515638	0.85389	.	.	ENSG00000176887	ENST00000322002	D	0.93811	-3.29	3.11	3.11	0.35812	3.11	3.11	0.35812	High mobility group, superfamily (1);	0.000000	0.56097	U	0.000023	D	0.95351	0.8491	M	0.68593	2.085	0.53688	D	0.999976	D	0.64830	0.994	D	0.66351	0.943	D	0.95090	0.8221	10	0.49607	T	0.09	.	14.1887	0.65623	0.0:0.0:1.0:0.0	.	40	P35716	SOX11_HUMAN	Y	40	ENSP00000322568:D40Y	ENSP00000322568:D40Y	D	+	1	0	0	SOX11	5750422	5750422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.351000	0.73022	1.445000	0.47624	0.466000	0.42574	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-11.329730	1	0.170000	NM_003108			8	8		166	161	0		1	0		0	0	26	0		9.886013e-01	0	0	0	0	1	0	8	166
SOX11	6664	broad.mit.edu	37	2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706																																						ENST00000322002.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(400-402)Gcc>Acc		SRY (sex determining region Y)-box 11							9.0	13.0	11.0					2																	5833253		2158	4256	6414	SO:0001583	missense	6664	1	120550	29				g.chr2:5833253G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.400G>A	chr2.hg19:g.5833253G>A	ENSP00000322568:p.Ala134Thr	1					AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	p.A134T	NM_003108.3	NP_003099.1	1	2	3	2.183349	P35716	SOX11_HUMAN		1	455	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	1	1	hg19	c.400G>A	CCDS1654.1	1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169174	0.57584	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	2.82	2.82	0.32997	2.82	2.82	0.32997	.	.	.	.	.	D	0.94159	0.8126	L	0.52011	1.625	0.39897	D	0.973855	B	0.25850	0.136	B	0.11329	0.006	D	0.90695	0.4616	9	0.13108	T	0.6	.	8.7744	0.34753	0.0:0.0:0.7743:0.2257	.	134	P35716	SOX11_HUMAN	T	134	ENSP00000322568:A134T	ENSP00000322568:A134T	A	+	1	0	0	SOX11	5750704	5750704	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	2.399000	0.44495	1.552000	0.49463	0.478000	0.44815	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_003108			31	31		129	128	0		1			0	0	30	0		1	0	0	0	0	0	0	31	129
RSAD2	91543	broad.mit.edu	37	2	7027154	7027154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438																																						ENST00000382040.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(595-597)aaC>aaT		radical S-adenosyl methionine domain containing 2							113.0	105.0	107.0					2																	7027154		2203	4300	6503	SO:0001819	synonymous_variant	91543	0	0					g.chr2:7027154C>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.597C>T	chr2.hg19:g.7027154C>T		1					RSAD2_ENST00000541728.1_Silent_p.N92N	p.N199N	NM_080657.4	NP_542388.2	1	2	3	2.183349				3	733	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Silent	SNP	ENST00000382040.3	1	1	hg19	c.597C>T	CCDS1656.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_080657			69	69		264	260	1		1	1		0	0	71	0		1	1	0	29	0	167	0	69	264
RNF144A	9781	broad.mit.edu	37	2	7170280	7170280	+	Silent	SNP	C	C	T	rs573785745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	227					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		TGATACACTACGATAAGGGAC	0.542																																						ENST00000320892.6	1.000000	0.510000	8.900000e-01	6.200000e-01	0.740000	0.756274	0.740000	1.000000																										0				25						c.(679-681)taC>taT		ring finger protein 144A							143.0	116.0	125.0					2																	7170280		2203	4300	6503	SO:0001819	synonymous_variant	9781	2	121412	34				g.chr2:7170280C>T	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.681C>T	chr2.hg19:g.7170280C>T		1					RNF144A_ENST00000467276.1_3'UTR	p.Y227Y	NM_014746.3	NP_055561.2	1	2	3	2.183349	P50876	R144A_HUMAN		8	1123	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	1	1	hg19	c.681C>T	CCDS1657.1	0	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751179	0.15778	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.09	-7.49	0.01355	5.09	-7.49	0.01355	.	.	.	.	.	T	0.62600	0.2441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	4	.	.	.	.	15.9038	0.79403	0.0:0.5952:0.0:0.4048	.	.	.	.	M	223	.	.	T	+	2	0	0	RNF144A	7087731	7087731	0.009000	0.17119	0.845000	0.33349	0.840000	0.47671	-1.079000	0.03410	-1.083000	0.03097	-0.619000	0.04042	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-6.534183	1	0.170000	NM_014746			30	30		486	471	0		1	1		0	0	76	0		1	7.572411e-01	0	3	0	43	0	30	486
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					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)			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)					CCATCTCATCGAAATTTTGAT	0.468																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(5095-5097)ttC>ttT		kinase D-interacting substrate, 220kDa							120.0	111.0	114.0					2																	8871069		1908	4129	6037	SO:0001819	synonymous_variant	57498	9	120864	41				g.chr2:8871069G>A	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.5097C>T	chr2.hg19:g.8871069G>A		1					KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000473731.1_Silent_p.F1680F	p.F1699F	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		30	5278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	1	1	hg19	c.5097C>T	CCDS42650.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_020738			85	85		254	245	0		1	1		0	0	58	0		1	1	0	47	0	143	0	85	254
KIDINS220	57498	broad.mit.edu	37	2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1643					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)			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)					AACAAATGGACATCCGAGCTA	0.493																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4927-4929)atG>atA		kinase D-interacting substrate, 220kDa							84.0	77.0	80.0					2																	8871237		1945	4131	6076	SO:0001583	missense	57498	0	0					g.chr2:8871237C>T	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.4929G>A	chr2.hg19:g.8871237C>T	ENSP00000256707:p.Met1643Ile	1					KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I	p.M1643I	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		30	5110	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	1	1	hg19	c.4929G>A	CCDS42650.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891470	0.91889	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.60575	0.979;0.964;0.988	D;D;D	0.73708	0.981;0.968;0.981	T	0.77169	-0.2686	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1544;1643;497	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1643;1624;1544;1624	ENSP00000256707:M1643I;ENSP00000411849:M1624I;ENSP00000414923:M1544I;ENSP00000418974:M1624I	ENSP00000256707:M1643I	M	-	3	0	0	KIDINS220	8788688	8788688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.861000	0.98227	0.655000	0.94253	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_020738			68	66		317	314	1		1	1		0	0	63	0		1	1	0	26	0	160	0	68	317
KIDINS220	57498	broad.mit.edu	37	2	8871626	8871626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1514					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)			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)					TGATAGCGCAGCCCACTTCCC	0.458																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4540-4542)Ctg>Ttg		kinase D-interacting substrate, 220kDa							57.0	59.0	58.0					2																	8871626		1901	4114	6015	SO:0001819	synonymous_variant	57498	0	0					g.chr2:8871626G>A	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.4540C>T	chr2.hg19:g.8871626G>A		1					KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L|KIDINS220_ENST00000473731.1_Silent_p.L1495L	p.L1514L	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		30	4721	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	1	1	hg19	c.4540C>T	CCDS42650.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_020738			60	58		315	306	1		1	1		0	0	58	0		1	1	0	31	0	152	0	60	315
KIDINS220	57498	broad.mit.edu	37	2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	978					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)			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)					CCATGAAGTCCGGTATGGCCA	0.398																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2932-2934)cGg>cAg		kinase D-interacting substrate, 220kDa							90.0	90.0	90.0					2																	8910878		1881	4116	5997	SO:0001583	missense	57498	0	0					g.chr2:8910878C>T	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.2933G>A	chr2.hg19:g.8910878C>T	ENSP00000256707:p.Arg978Gln	1					KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q	p.R978Q	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		22	3114	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	1	1	hg19	c.2933G>A	CCDS42650.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.436799	0.96168	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80566	-0.31;-1.39;-1.32;-1.17;-1.32;-1.32;-1.19	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.91635	0.921;0.999;0.999;0.997	D	0.92224	0.5787	10	0.87932	D	0	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	979;979;936;978	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	725;662;978;978;936;978;979;979	ENSP00000420364:R725Q;ENSP00000256707:R978Q;ENSP00000411849:R978Q;ENSP00000414923:R936Q;ENSP00000418974:R978Q;ENSP00000419964:R979Q;ENSP00000319947:R979Q	ENSP00000256707:R978Q	R	-	2	0	0	KIDINS220	8828329	8828329	1.000000	0.71417	0.814000	0.32528	0.955000	0.61496	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-7.244131	1	0.170000	NM_020738			101	99		247	243	1		1	1		0	0	46	0		1	1	0	26	0	109	0	101	247
KIDINS220	57498	broad.mit.edu	37	2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T	rs185330217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	645	KAP NTPase.				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)			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)					CCTACCCTGAGTATCTTCAGT	0.423																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1933-1935)aCt>aAt		kinase D-interacting substrate, 220kDa							116.0	110.0	112.0					2																	8926341		1860	4103	5963	SO:0001583	missense	57498	0	0					g.chr2:8926341G>T	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.1934C>A	chr2.hg19:g.8926341G>T	ENSP00000256707:p.Thr645Asn	1					KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N	p.T645N	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		16	2115	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	1	0	hg19	c.1934C>A	CCDS42650.1	1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554050	0.45487	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	5.07	0.68467	5.96	5.07	0.68467	KAP P-loop (1);	0.483087	0.25283	N	0.031782	T	0.32763	0.0840	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.18610	0.029;0.025;0.02;0.025	B;B;B;B	0.34779	0.081;0.189;0.095;0.121	T	0.35400	-0.9790	10	0.51188	T	0.08	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	646;646;603;645	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	N	392;329;645;645;603;645;646;646	ENSP00000420364:T392N;ENSP00000256707:T645N;ENSP00000411849:T645N;ENSP00000414923:T603N;ENSP00000418974:T645N;ENSP00000419964:T646N;ENSP00000319947:T646N	ENSP00000256707:T645N	T	-	2	0	0	KIDINS220	8843792	8843792	0.989000	0.36119	0.077000	0.20336	0.960000	0.62799	5.320000	0.65841	1.488000	0.48433	0.655000	0.94253	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	0		2	2	2	0		0	0	137		137	137	1	2.060000	-2.966961	1	0.170000	NM_020738			184	181		561	549	1		1	1		0	0	137	0		1	1	0	17	0	72	0	184	561
KIDINS220	57498	broad.mit.edu	37	2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	617	KAP NTPase.				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)			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)					GGGTTGCAATCATTTCAGCCA	0.383																																						ENST00000256707.3	1.000000	0.710000	1	8.000000e-01	0.900000	0.902229	0.900000	1.000000																										0				60						c.(1849-1851)atG>atA		kinase D-interacting substrate, 220kDa							162.0	153.0	156.0					2																	8926424		1846	4087	5933	SO:0001583	missense	57498	0	0					g.chr2:8926424C>T	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.1851G>A	chr2.hg19:g.8926424C>T	ENSP00000256707:p.Met617Ile	1					KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I	p.M617I	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		16	2032	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	1	1	hg19	c.1851G>A	CCDS42650.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834841	0.91036	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.979;0.983	D;D;D;D	0.91635	0.968;0.999;0.986;0.992	T	0.22277	-1.0221	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	618;618;575;617	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	I	364;301;617;617;575;617;618;618	ENSP00000420364:M364I;ENSP00000256707:M617I;ENSP00000411849:M617I;ENSP00000414923:M575I;ENSP00000418974:M617I;ENSP00000419964:M618I;ENSP00000319947:M618I	ENSP00000256707:M617I	M	-	3	0	0	KIDINS220	8843875	8843875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.885000	0.99019	0.655000	0.94253	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	0		2	2	2	0		0	0	165		165	164	1	2.060000	-12.758860	1	0.170000	NM_020738			68	64		888	870	0		1	1		0	0	165	0		1	9.819167e-01	0	4	0	79	0	68	888
KIDINS220	57498	broad.mit.edu	37	2	8936988	8936988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000473731.1_Silent_p.T337T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					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)			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)					TTATAAGTGGCGTTTCACCAT	0.398																																						ENST00000256707.3	0.460000	0.170000	3.800000e-01	2.200000e-01	0.290000	0.309314	0.290000	0.300000																										0				60						c.(1009-1011)acG>acA		kinase D-interacting substrate, 220kDa							212.0	207.0	209.0					2																	8936988		1964	4164	6128	SO:0001819	synonymous_variant	57498	1	120914	35				g.chr2:8936988C>T	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.1011G>A	chr2.hg19:g.8936988C>T		1					KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000473731.1_Silent_p.T337T	p.T337T	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		11	1192	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	0	1	hg19	c.1011G>A	CCDS42650.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	0	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-2.643365	1	0.170000	NM_020738			15	15		640	626	0		1	0		0	0	107	0		9.998493e-01	6.496548e-01	0	1	0	93	0	15	640
KIDINS220	57498	broad.mit.edu	37	2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	83					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)			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)					GATGTGCACATGCCCTTCTTT	0.343																																						ENST00000256707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(247-249)cAt>cGt		kinase D-interacting substrate, 220kDa							191.0	178.0	182.0					2																	8957806		1903	4096	5999	SO:0001583	missense	57498	0	0					g.chr2:8957806T>C	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.248A>G	chr2.hg19:g.8957806T>C	ENSP00000256707:p.His83Arg	1					KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R	p.H83R	NM_020738.2	NP_065789.1	1	2	3	2.183349	Q9ULH0	KDIS_HUMAN		4	429	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	1	1	hg19	c.248A>G	CCDS42650.1	1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584883	0.65992	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65732	-0.12;-0.12;-0.17;-0.12;-0.12;-0.12	5.77	5.77	0.91146	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.26162	0.8	0.80722	D	1	D;D;D	0.89917	0.968;0.999;1.0	D;D;D	0.91635	0.969;0.999;0.999	T	0.73094	-0.4091	10	0.72032	D	0.01	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	83;41;83	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	83;83;41;83;83;83	ENSP00000256707:H83R;ENSP00000411849:H83R;ENSP00000414923:H41R;ENSP00000418974:H83R;ENSP00000419964:H83R;ENSP00000319947:H83R	ENSP00000256707:H83R	H	-	2	0	0	KIDINS220	8875257	8875257	1.000000	0.71417	0.915000	0.36163	0.446000	0.32137	6.861000	0.75478	2.199000	0.70637	0.533000	0.62120	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_020738			156	152		489	484	1		1	1		0	0	105	0		1	9.999999e-01	0	14	0	61	0	156	489
ASAP2	8853	broad.mit.edu	37	2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	168					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493																																						ENST00000281419.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.998011	0.990000	1.000000																										0				36						c.(502-504)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							118.0	118.0	118.0					2																	9463281		2203	4300	6503	SO:0001583	missense	8853	1	121412	19				g.chr2:9463281G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.502G>A	chr2.hg19:g.9463281G>A	ENSP00000281419:p.Ala168Thr	1					ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	p.A168T	NM_003887.2	NP_003878.1	1	2	3	2.183349	O43150	ASAP2_HUMAN		6	842	+			D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	1	1	hg19	c.502G>A	CCDS1661.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.649500	0.96714	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04551	3.6;3.6	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.109197	0.64402	D	0.000006	T	0.22589	0.0545	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.954	T	0.00162	-1.1971	10	0.51188	T	0.08	.	18.5624	0.91105	0.0:0.0:1.0:0.0	.	168;168	O43150-2;O43150	.;ASAP2_HUMAN	T	168	ENSP00000281419:A168T;ENSP00000316404:A168T	ENSP00000281419:A168T	A	+	1	0	0	ASAP2	9380732	9380732	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	9.342000	0.97044	2.702000	0.92279	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	1	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-3.142702	1	0.170000	NM_003887			74	74		703	688	1		1	1		0	0	144	0		1	9.999999e-01	0	32	0	191	0	74	703
ASAP2	8853	broad.mit.edu	37	2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	951	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592																																						ENST00000281419.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2851-2853)Gcg>Acg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							112.0	105.0	107.0					2																	9541430		2202	4298	6500	SO:0001583	missense	8853	0	0					g.chr2:9541430G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2851G>A	chr2.hg19:g.9541430G>A	ENSP00000281419:p.Ala951Thr	1					ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	p.A951T	NM_003887.2	NP_003878.1	1	2	3	2.183349	O43150	ASAP2_HUMAN		27	3191	+			D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	1	1	hg19	c.2851G>A	CCDS1661.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387495	0.61956	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.69685	-0.42;-0.42	5.66	5.66	0.87406	5.66	5.66	0.87406	Src homology-3 domain (4);	0.049976	0.85682	D	0.000000	D	0.85177	0.5637	M	0.90019	3.08	0.58432	D	0.999999	D;B	0.71674	0.998;0.008	D;B	0.81914	0.995;0.106	D	0.84036	0.0362	10	0.30078	T	0.28	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	906;951	O43150-2;O43150	.;ASAP2_HUMAN	T	951;906	ENSP00000281419:A951T;ENSP00000316404:A906T	ENSP00000281419:A951T	A	+	1	0	0	ASAP2	9458881	9458881	1.000000	0.71417	0.979000	0.43373	0.730000	0.41778	9.452000	0.97615	2.669000	0.90835	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	0	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_003887			61	61		356	349	1		1	1		0	0	99	0		1	1	0	81	0	208	0	61	356
IAH1	285148	broad.mit.edu	37	2	9621566	9621566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000497473.1	+	4	472	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IAH1_ENST00000470914.1_Silent_p.C32C|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	145					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512																																						ENST00000497473.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				8						c.(433-435)tgC>tgT		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							49.0	49.0	49.0					2																	9621566		1986	4174	6160	SO:0001819	synonymous_variant	285148	0	0					g.chr2:9621566C>T	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.435C>T	chr2.hg19:g.9621566C>T		1					IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000470914.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C	p.C145C	NM_001039613.1	NP_001034702.1	1	2	3	2.183349	Q2TAA2	IAH1_HUMAN		4	472	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		B4DMV3	Silent	SNP	ENST00000497473.1	1	1	hg19	c.435C>T	CCDS42651.1	1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274065	0.10403	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.38	2.56	0.30785	5.38	2.56	0.30785	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-28.454	10.0625	0.42284	0.0:0.657:0.0:0.343	.	.	.	.	V	125	.	.	A	+	2	0	0	IAH1	9539017	9539017	0.047000	0.20315	0.040000	0.18447	0.035000	0.12851	0.441000	0.21611	0.753000	0.32945	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_001039613			31	28		159	158	1		1	1		0	0	33	0		1	1	0	80	0	330	0	31	159
ADAM17	6868	broad.mit.edu	37	2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			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)		TTCTTCCCAACTGGGCTATAA	0.289																																						ENST00000310823.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1117-1119)Gtt>Att		ADAM metallopeptidase domain 17							60.0	68.0	65.0					2																	9658104		2196	4292	6488	SO:0001583	missense	6868	0	0					g.chr2:9658104C>T	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.1117G>A	chr2.hg19:g.9658104C>T	ENSP00000309968:p.Val373Ile	1						p.V373I	NM_003183.4	NP_003174.3	1	2	3	2.183349	P78536	ADA17_HUMAN		10	1299	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		O60226	Missense_Mutation	SNP	ENST00000310823.3	1	1	hg19	c.1117G>A	CCDS1665.1	1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742956	0.15642	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	6.17	-2.53	0.06326	6.17	-2.53	0.06326	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	1.724310	0.02114	N	0.055067	T	0.73321	0.3572	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56757	-0.7926	10	0.27082	T	0.32	.	0.8013	0.01075	0.2124:0.162:0.3155:0.31	.	373;373	B2RNB2;P78536	.;ADA17_HUMAN	I	373	ENSP00000309968:V373I	ENSP00000309968:V373I	V	-	1	0	0	ADAM17	9575555	9575555	0.000000	0.05858	0.031000	0.17742	0.954000	0.61252	-1.130000	0.03241	-0.426000	0.07360	-0.137000	0.14449	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				111	109		360	357	1		1	1		0	0	87	0		1	1	0	33	0	78	0	111	360
ADAM17	6868	broad.mit.edu	37	2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T	rs199524645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000310823.3	-	4	579	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	133					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)			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)		ACATCATCATCTCTTATGTGG	0.299																																						ENST00000310823.3	1.000000	0.500000	1	6.600000e-01	0.860000	0.843100	0.860000	1.000000																										0				28						c.(397-399)Gat>Aat		ADAM metallopeptidase domain 17							59.0	60.0	59.0					2																	9676016		2202	4298	6500	SO:0001583	missense	6868	0	0					g.chr2:9676016C>T	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.397G>A	chr2.hg19:g.9676016C>T	ENSP00000309968:p.Asp133Asn	1					ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	p.D133N	NM_003183.4	NP_003174.3	1	2	3	2.183349	P78536	ADA17_HUMAN		4	579	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		O60226	Missense_Mutation	SNP	ENST00000310823.3	1	1	hg19	c.397G>A	CCDS1665.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684898	0.88639	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.67698	1.92;-0.28	5.33	5.33	0.75918	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.226724	0.43260	D	0.000593	T	0.79822	0.4512	L	0.54908	1.71	0.58432	D	0.999997	D;P;D;P	0.89917	1.0;0.605;1.0;0.605	D;B;D;B	0.97110	1.0;0.264;1.0;0.264	T	0.80214	-0.1475	10	0.59425	D	0.04	.	19.3847	0.94551	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	N	133	ENSP00000309968:D133N;ENSP00000418728:D133N	ENSP00000309968:D133N	D	-	1	0	0	ADAM17	9593467	9593467	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.452000	0.52971	2.642000	0.89623	0.557000	0.71058	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.319639	1	0.170000				14	14		196	193	0		1	1		0	0	37	0		9.997626e-01	9.551604e-01	0	3	0	73	0	14	196
ADAM17	6868	broad.mit.edu	37	2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000310823.3	-	1	255	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	RP11-214N9.1_ENST00000607241.1_lincRNA|ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	25					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)			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)		GGGCCGAAGCCCGGGTCATCC	0.652											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310823.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998744	0.990000	1.000000																										0				28						c.(73-75)Ggc>Agc		ADAM metallopeptidase domain 17							24.0	27.0	26.0					2																	9695662		2201	4296	6497	SO:0001583	missense	6868	0	0					g.chr2:9695662C>T	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.73G>A	chr2.hg19:g.9695662C>T	ENSP00000309968:p.Gly25Ser	1		OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	658	RP11-214N9.1_ENST00000607241.1_lincRNA|ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	p.G25S	NM_003183.4	NP_003174.3	1	2	3	2.183349	P78536	ADA17_HUMAN		1	255	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		O60226	Missense_Mutation	SNP	ENST00000310823.3	0	1	hg19	c.73G>A	CCDS1665.1	1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070722	0.07228	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.61859	2.18;0.07	4.36	2.52	0.30459	4.36	2.52	0.30459	.	0.486110	0.22687	N	0.056878	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16166	0.016;0.001;0.016;0.001	B;B;B;B	0.15870	0.007;0.001;0.014;0.001	T	0.17930	-1.0353	10	0.30854	T	0.27	.	8.9281	0.35652	0.0:0.7999:0.0:0.2001	.	25;25;25;25	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	S	25	ENSP00000309968:G25S;ENSP00000418728:G25S	ENSP00000309968:G25S	G	-	1	0	0	ADAM17	9613113	9613113	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.044000	0.30329	0.585000	0.29608	-0.797000	0.03246	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-19.852520	1	0.170000				11	11		58	58	1		1	1		0	0	13	0		9.987994e-01	9.997340e-01	0	23	0	65	0	11	58
ITSN2	50618	broad.mit.edu	37	2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1075	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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)					CTGTCCTGGTGCAAGGCTAAG	0.343																																						ENST00000355123.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.995970	0.990000	1.000000																										0				61						c.(3223-3225)gCa>gTa		intersectin 2							45.0	45.0	45.0					2																	24471562		2203	4300	6503	SO:0001583	missense	50618	1	121386	27				g.chr2:24471562G>A	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.3224C>T	chr2.hg19:g.24471562G>A	ENSP00000347244:p.Ala1075Val	1					ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	p.A1075V	NM_006277.2	NP_006268.2	1	2	3	2.183349	Q9NZM3	ITSN2_HUMAN		27	3667	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	1	1	hg19	c.3224C>T	CCDS1710.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559103|3.559103	0.65538|0.65538	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76|.	5.75|5.75	5.75|5.75	0.90469|0.90469	5.75|5.75	5.75|5.75	0.90469|0.90469	Src homology-3 domain (4);|.	0.000000|.	0.31721|.	U|.	0.007178|.	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.29908|0.29908	0.895|0.895	0.46631|0.46631	D|D	0.999137|0.999137	P;P;P|.	0.47484|.	0.873;0.873;0.896|.	P;P;P|.	0.48952|.	0.461;0.461;0.596|.	T|T	0.50972|0.50972	-0.8764|-0.8764	10|5	0.62326|.	D|.	0.03|.	.|.	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;1048;1075|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	V|Y	1048;1075;1048;1075|3	ENSP00000354561:A1048V;ENSP00000347244:A1075V;ENSP00000370250:A1048V;ENSP00000384499:A1075V|.	ENSP00000347244:A1075V|.	A|H	-|-	2|1	0|0	0|0	ITSN2|ITSN2	24325066|24325066	24325066|24325066	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.334000|4.334000	0.59291|0.59291	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_006277			29	30		247	247	1		1	1		0	0	37	0		1	9.905520e-01	0	11	0	54	0	29	247
ITSN2	50618	broad.mit.edu	37	2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	873					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)			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)					ATTTTTTCTGCCATGATGTAT	0.368																																						ENST00000355123.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										0				61						c.(2617-2619)tgG>tgA		intersectin 2							131.0	122.0	125.0					2																	24484038		2203	4300	6503	SO:0001587	stop_gained	50618	0	0					g.chr2:24484038C>T	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.2619G>A	chr2.hg19:g.24484038C>T	ENSP00000347244:p.Trp873*	1					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	p.W873*	NM_006277.2	NP_006268.2	1	2	3	2.183349	Q9NZM3	ITSN2_HUMAN		22	3062	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	0	1	hg19	c.2619G>A	CCDS1710.2	1	.	.	.	.	.	.	.	.	.	.	C	42	9.288940	0.99127	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.35870	U	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	.	.	.	X	846;873;846;873	.	ENSP00000347244:W873X	W	-	3	0	0	ITSN2	24337542	24337542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.841000	0.55850	2.650000	0.89964	0.555000	0.69702	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-16.395180	1	0.170000	NM_006277			35	35		231	230	1		1	1		0	0	59	0		1	9.980433e-01	0	3	0	63	0	35	231
ITSN2	50618	broad.mit.edu	37	2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	215					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)			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)					CTACTAGATCCTAAATCAATC	0.343																																						ENST00000355123.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(643-645)Gga>Tga		intersectin 2							233.0	249.0	244.0					2																	24533163		2203	4300	6503	SO:0001587	stop_gained	50618	0	0					g.chr2:24533163C>A	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.643G>T	chr2.hg19:g.24533163C>A	ENSP00000347244:p.Gly215*	1					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000407704.1_5'Flank	p.G215*	NM_006277.2	NP_006268.2	1	2	3	2.183349	Q9NZM3	ITSN2_HUMAN		7	1086	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	0	1	hg19	c.643G>T	CCDS1710.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.438748	0.96168	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.97	4.09	0.47781	4.97	4.09	0.47781	.	0.000000	0.32372	U	0.006187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.4601	0.61223	0.1566:0.8434:0.0:0.0	.	.	.	.	X	215;215;215;214;215;215	.	ENSP00000347244:G215X	G	-	1	0	0	ITSN2	24386667	24386667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	1.207000	0.43291	0.591000	0.81541	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1		2	2	2	0		0	0	360		360	358	1	2.060000	-20.000000	1	0.170000	NM_006277			221	215		1295	1274	1		1	1		0	0	360	0		1	9.980222e-01	0	2	0	53	0	221	1295
NCOA1	8648	broad.mit.edu	37	2	24905930	24905930	+	Silent	SNP	C	C	T	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000406961.1	+	8	1117	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000405141.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	155	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		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)					TGAATACGAGCGTCTACAGCA	0.368			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000406961.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p23	2p23	8648	T	nuclear receptor coactivator 1				M	M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				53						c.(463-465)agC>agT		nuclear receptor coactivator 1		C	,,	3,4403	6.2+/-15.9	0,3,2200	86.0	83.0	84.0		465,465,465	-2.9	1.0	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	155/1442,155/1400,155/1441	24905930	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8648	6	121412	39				g.chr2:24905930C>T	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.465C>T	chr2.hg19:g.24905930C>T		1					NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000405141.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S	p.S155S			1	2	3	2.183349	Q15788	NCOA1_HUMAN		8	1117	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	1	1	hg19	c.465C>T	CCDS1712.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-19.999990	1	0.170000	NM_147223			55	54		330	324	1		1	1		0	0	50	0		1	9.998688e-01	0	10	0	71	0	55	330
NCOA1	8648	broad.mit.edu	37	2	24952420	24952420	+	Silent	SNP	G	G	A	rs369260461		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000406961.1	+	17	3589	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000405141.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	979	Interaction with CREBBP.				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)		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)					AACAAGCAACGCCACCTTTGA	0.428			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000406961.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p23	2p23	8648	T	nuclear receptor coactivator 1				M	M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				53						c.(2935-2937)acG>acA		nuclear receptor coactivator 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	157.0	140.0	146.0		2937,2937,2937	3.8	1.0	2		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	979/1442,979/1400,979/1441	24952420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8648	2	121412	38				g.chr2:24952420G>A	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.2937G>A	chr2.hg19:g.24952420G>A		1					NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000405141.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T	p.T979T			1	2	3	2.183349	Q15788	NCOA1_HUMAN		17	3589	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	1	1	hg19	c.2937G>A	CCDS1712.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1		22	2	2	0		0	1	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_147223			212	207		558	545	1		1	1		0	0	110	0		1	1	0	50	0	79	0	212	558
NCOA1	8648	broad.mit.edu	37	2	24991146	24991146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1404					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.G1404G(1)	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)					ATCTGGTAGGCGGGGACCCTT	0.557			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000406961.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p23	2p23	8648	T	nuclear receptor coactivator 1				M	M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	1	Substitution - coding silent(1)	p.G1404G(1)	large_intestine(1)	53						c.(4210-4212)ggC>ggT		nuclear receptor coactivator 1							100.0	101.0	100.0					2																	24991146		2203	4300	6503	SO:0001819	synonymous_variant	8648	2	121412	36				g.chr2:24991146C>T	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.4212C>T	chr2.hg19:g.24991146C>T		1					NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR	p.G1404G			1	2	3	2.183349	Q15788	NCOA1_HUMAN		23	4864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	1	1	hg19	c.4212C>T	CCDS1712.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-3.320413	1	0.170000	NM_147223			95	94		510	498	1		1	1		0	0	117	0		1	9.999998e-01	0	16	0	101	0	95	510
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000260600.5	-	21	4139	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612																																						ENST00000260600.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				44						c.(3286-3288)taC>taT		adenylate cyclase 3							54.0	48.0	50.0					2																	25042948		2203	4300	6503	SO:0001819	synonymous_variant	109	1	121294	28				g.chr2:25042948G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3288C>T	chr2.hg19:g.25042948G>A		1					CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y	p.Y1096Y	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		21	4139	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	1	1	hg19	c.3288C>T	CCDS1715.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	0		2	2	2	0		0	0	67		67	65	1	2.060000	-2.928586	1	0.170000				35	33		205	198	1		1	1		0	0	67	0		1	9.999999e-01	0	18	0	141	0	35	205
ADCY3	109	broad.mit.edu	37	2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000260600.5	-	21	4128	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1093					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612																																						ENST00000260600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3277-3279)Ctc>Atc		adenylate cyclase 3							51.0	46.0	48.0					2																	25042959		2203	4300	6503	SO:0001583	missense	109	0	0					g.chr2:25042959G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3277C>A	chr2.hg19:g.25042959G>T	ENSP00000260600:p.Leu1093Ile	1					CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I	p.L1093I	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		21	4128	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.3277C>A	CCDS1715.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935156	0.92458	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.86097	-2.07;-2.07	5.68	5.68	0.88126	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.59436	1.845	0.52501	D	0.999958	D;D;P	0.76494	0.984;0.999;0.546	D;D;P	0.97110	0.981;1.0;0.803	D	0.90900	0.4768	10	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1094;1093;680	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1093;680;1068	ENSP00000260600:L1093I;ENSP00000384484:L680I	ENSP00000260600:L1093I	L	-	1	0	0	ADCY3	24896463	24896463	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.526000	0.81920	2.838000	0.97847	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-4.106002	1	0.170000				54	52		187	179	1		1	1		0	0	63	0		1	1	0	43	0	130	0	54	187
ADCY3	109	broad.mit.edu	37	2	25046192	25046192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000260600.5	-	17	3620	c.2769A>G	c.(2767-2769)ggA>ggG	p.G923G	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.G510G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	923					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468																																						ENST00000260600.5	1.000000	0.700000	1	8.800000e-01	0.990000	0.959066	0.990000	1.000000																										0				44						c.(2767-2769)ggA>ggG		adenylate cyclase 3							148.0	113.0	125.0					2																	25046192		2203	4300	6503	SO:0001819	synonymous_variant	109	0	0					g.chr2:25046192T>C	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2769A>G	chr2.hg19:g.25046192T>C		1					RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.G510G	p.G923G	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		17	3620	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	1	1	hg19	c.2769A>G	CCDS1715.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				21	21		225	220	1		1	1		0	0	58	0		9.999976e-01	9.995779e-01	0	16	0	120	0	21	225
ADCY3	109	broad.mit.edu	37	2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T	rs369803323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000260600.5	-	13	3243	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	798					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2392-2394)Gtc>Atc		adenylate cyclase 3		C	ILE/VAL	0,4406		0,0,2203	100.0	91.0	94.0		2392	-0.7	0.9	2		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY3	NM_004036.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	798/1145	25050811	1,13005	2203	4300	6503	SO:0001583	missense	109	2	121412	40				g.chr2:25050811C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2392G>A	chr2.hg19:g.25050811C>T	ENSP00000260600:p.Val798Ile	1		OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I	p.V798I	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		13	3243	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.2392G>A	CCDS1715.1	1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675471	0.03378	0.0	1.16E-4	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.38	-0.709	0.11237	5.38	-0.709	0.11237	.	0.251516	0.42964	N	0.000624	T	0.25938	0.0632	N	0.00677	-1.265	0.29688	N	0.841193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.15952	T	0.53	.	13.8019	0.63206	0.0:0.1043:0.0:0.8957	.	798;798;385	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	798;385;773;137;141	ENSP00000260600:V798I;ENSP00000384484:V385I;ENSP00000402008:V137I;ENSP00000410972:V141I	ENSP00000260600:V798I	V	-	1	0	0	ADCY3	24904315	24904315	1.000000	0.71417	0.926000	0.36857	0.006000	0.05464	2.103000	0.41806	-0.280000	0.09154	-1.910000	0.00522	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-4.147297	1	0.170000				95	94		338	336	1		1	1		0	0	83	0		1	1	0	35	0	110	0	95	338
ADCY3	109	broad.mit.edu	37	2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T	rs564626097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000260600.5	-	9	2649	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T|ADCY3_ENST00000450524.1_5'Flank	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	600					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACACTTGGGCGGACTCTCGC	0.637													C|||	3	0.000599042	0.0	0.0043	5008	,	,		15217	0.0		0.0	False		,,,				2504	0.0					ENST00000260600.5	0.710000	0.240000	5.800000e-01	3.300000e-01	0.440000	0.462606	0.440000	0.430000																										0				44						c.(1798-1800)Gcc>Acc		adenylate cyclase 3							45.0	46.0	46.0					2																	25057670		2203	4300	6503	SO:0001583	missense	109	6	121412	36				g.chr2:25057670C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1798G>A	chr2.hg19:g.25057670C>T	ENSP00000260600:p.Ala600Thr	1					ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	p.A600T	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		9	2649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.1798G>A	CCDS1715.1	0	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.261189	0.37095	N	0.002250	T	0.18002	0.0432	N	0.08118	0	0.40094	D	0.976298	P;P;P	0.44776	0.751;0.843;0.751	B;B;B	0.24394	0.037;0.037;0.053	T	0.15896	-1.0421	10	0.14252	T	0.57	.	17.2636	0.87078	0.0:1.0:0.0:0.0	.	600;600;233	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	600;233;575	ENSP00000260600:A600T;ENSP00000384484:A233T	ENSP00000260600:A600T	A	-	1	0	0	ADCY3	24911174	24911174	0.999000	0.42202	0.943000	0.38184	0.969000	0.65631	4.132000	0.57977	2.413000	0.81919	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.006078	1	0.170000				13	13		368	364	0		1	1		0	0	70	0		9.995204e-01	8.190833e-01	0	3	0	88	0	13	368
ADCY3	109	broad.mit.edu	37	2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	256					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632																																						ENST00000260600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(766-768)Ctg>Atg		adenylate cyclase 3							83.0	83.0	83.0					2																	25095498		2203	4300	6503	SO:0001583	missense	109	0	0					g.chr2:25095498G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.766C>A	chr2.hg19:g.25095498G>T	ENSP00000260600:p.Leu256Met	1						p.L256M	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		2	1617	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.766C>A	CCDS1715.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852307	0.71719	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	D;D;D	0.83419	-1.72;-1.61;-1.51	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91272	0.5045	10	0.66056	D	0.02	.	17.3652	0.87362	0.0:0.0:1.0:0.0	.	256;256	B7ZLX9;O60266	.;ADCY3_HUMAN	M	256;231;22;34	ENSP00000260600:L256M;ENSP00000399275:L22M;ENSP00000401455:L34M	ENSP00000260600:L256M	L	-	1	2	2	ADCY3	24949002	24949002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.323000	0.59221	2.430000	0.82344	0.591000	0.81541	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-2.639724	1	0.170000				179	177		768	753	1		1	1		0	0	130	0		1	1	0	19	0	97	0	179	768
ADCY3	109	broad.mit.edu	37	2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	159					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622																																						ENST00000260600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(475-477)tTc>tCc		adenylate cyclase 3							81.0	86.0	84.0					2																	25141381		2203	4300	6503	SO:0001583	missense	109	0	0					g.chr2:25141381A>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.476T>C	chr2.hg19:g.25141381A>G	ENSP00000260600:p.Phe159Ser	1						p.F159S	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		1	1327	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.476T>C	CCDS1715.1	1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019731	0.35606	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.81078	-1.45;-1.09	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.062532	0.64402	D	0.000005	T	0.73961	0.3654	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.17433	0.018;0.018	T	0.68599	-0.5366	10	0.21540	T	0.41	.	12.5861	0.56419	1.0:0.0:0.0:0.0	.	159;159	B7ZLX9;O60266	.;ADCY3_HUMAN	S	159;134;159	ENSP00000260600:F159S;ENSP00000389799:F159S	ENSP00000260600:F159S	F	-	2	0	0	ADCY3	24994885	24994885	1.000000	0.71417	0.885000	0.34714	0.655000	0.38815	6.454000	0.73493	1.842000	0.53543	0.460000	0.39030	TTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000				153	152		423	419	1		1	1		0	0	114	0		1	1	0	38	0	86	0	153	423
ADCY3	109	broad.mit.edu	37	2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	51					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637																																						ENST00000260600.5	1.000000	0.530000	1	6.700000e-01	0.830000	0.828048	0.830000	1.000000																										0				44						c.(151-153)cGc>cAc		adenylate cyclase 3							41.0	45.0	44.0					2																	25141705		2203	4300	6503	SO:0001583	missense	109	0	0					g.chr2:25141705C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.152G>A	chr2.hg19:g.25141705C>T	ENSP00000260600:p.Arg51His	1						p.R51H	NM_004036.3	NP_004027.2	1	2	3	2.183349	O60266	ADCY3_HUMAN		1	1003	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	1	1	hg19	c.152G>A	CCDS1715.1	0	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403834	0.62288	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80738	-1.41;-1.02;0.65	4.27	3.37	0.38596	4.27	3.37	0.38596	.	0.198405	0.45126	D	0.000381	T	0.72011	0.3408	L	0.51422	1.61	0.80722	D	1	P;P	0.40332	0.713;0.713	B;B	0.35114	0.182;0.196	T	0.74312	-0.3706	10	0.44086	T	0.13	.	11.2568	0.49058	0.0:0.907:0.0:0.0929	.	51;51	B7ZLX9;O60266	.;ADCY3_HUMAN	H	51;26;51;51	ENSP00000260600:R51H;ENSP00000389799:R51H;ENSP00000406153:R51H	ENSP00000260600:R51H	R	-	2	0	0	ADCY3	24995209	24995209	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.815000	0.48018	2.211000	0.71520	0.563000	0.77884	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				22	22		319	319	0		1	1		0	0	54	0		9.999989e-01	9.571039e-01	0	3	0	75	0	22	319
POMC	5443	broad.mit.edu	37	2	25384073	25384073	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin	227					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCCCCAGCGGAAGTGCT	0.652																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				12						c.(679-681)cgC>cgA		proopiomelanocortin	Loperamide(DB00836)						35.0	37.0	36.0					2																	25384073		2203	4300	6503	SO:0001819	synonymous_variant	5443	0	0					g.chr2:25384073G>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.681C>A	chr2.hg19:g.25384073G>T		1					POMC_ENST00000264708.3_Silent_p.R227R|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R	p.R227R			1	2	3	2.183349	P01189	COLI_HUMAN		3	1136	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	1	1	hg19	c.681C>A	CCDS1717.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_001035256			37	36		227	224	1		1	0		0	0	47	0		1	3.747259e-01	0	0	0	9	0	37	227
DNMT3A	1788	broad.mit.edu	37	2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	790	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)			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)					GTAGCGGGCCCTGTGTGCAGC	0.562			"""Mis, F, N, S"""		AML																																	ENST00000264709.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		2	2p23	2p23	1788	Mis, F, N, S	DNA (cytosine-5-)-methyltransferase 3 alpha				L	L			AML		0				1021						c.(2368-2370)aGg>aTg		DNA (cytosine-5-)-methyltransferase 3 alpha							69.0	62.0	64.0					2																	25462038		2203	4300	6503	SO:0001583	missense	1788	0	0					g.chr2:25462038C>A		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.2369G>T	chr2.hg19:g.25462038C>A	ENSP00000264709:p.Arg790Met	1					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M	p.R790M	NM_175629.2	NP_783328.1	1	2	3	2.183349	Q9Y6K1	DNM3A_HUMAN		20	2706	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	1	1	hg19	c.2369G>T	CCDS33157.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.187538	0.94923	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.084554	0.85682	D	0.000000	D	0.99846	0.9929	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.87932	D	0	-14.0906	17.206	0.86918	0.0:1.0:0.0:0.0	.	790;601	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	601;790;790;567	ENSP00000370122:R601M;ENSP00000324375:R790M;ENSP00000264709:R790M;ENSP00000384237:R567M	ENSP00000264709:R790M	R	-	2	0	0	DNMT3A	25315542	25315542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.430817	1	0.170000	NM_022552			34	34		139	136	0		1	0		0	0	35	0		1	9.957900e-01	0	1	0	37	0	34	139
DNMT3A	1788	broad.mit.edu	37	2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					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)			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)					TCACAAATTCCTGGTCGTGGT	0.637			"""Mis, F, N, S"""		AML																																	ENST00000264709.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		2	2p23	2p23	1788	Mis, F, N, S	DNA (cytosine-5-)-methyltransferase 3 alpha				L	L			AML		0				1021						c.(1843-1845)caG>caT		DNA (cytosine-5-)-methyltransferase 3 alpha							32.0	37.0	36.0					2																	25467030		2203	4300	6503	SO:0001583	missense	1788	0	0					g.chr2:25467030C>A		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.1845G>T	chr2.hg19:g.25467030C>A	ENSP00000264709:p.Gln615His	1					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H	p.Q615H	NM_175629.2	NP_783328.1	1	2	3	2.183349	Q9Y6K1	DNM3A_HUMAN		15	2182	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	1	1	hg19	c.1845G>T	CCDS33157.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789743	0.70337	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.08	3.25	0.37280	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.71036	2.16	0.80722	D	1	B;D	0.71674	0.353;0.998	B;D	0.79784	0.106;0.993	T	0.81015	-0.1124	10	0.33141	T	0.24	-9.0995	8.0965	0.30831	0.0:0.762:0.0:0.238	.	615;426	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	426;615;615;392	ENSP00000370122:Q426H;ENSP00000324375:Q615H;ENSP00000264709:Q615H;ENSP00000384237:Q392H	ENSP00000264709:Q615H	Q	-	3	2	2	DNMT3A	25320534	25320534	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.644000	0.24766	2.354000	0.79902	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-9.081131	1	0.170000	NM_022552			113	113		261	258	1		1	1		0	0	67	0		1	9.999514e-01	0	10	0	27	0	113	261
DNMT3A	1788	broad.mit.edu	37	2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	398	Interaction with DNMT1 and DNMT3B.				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)			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)					CACCTCCACGGCCTTGGCAGT	0.642			"""Mis, F, N, S"""		AML																																	ENST00000264709.3	1.000000	0.690000	1	7.900000e-01	0.900000	0.902123	0.900000	1.000000				Rec	yes			Rec	yes		2	2p23	2p23	1788	Mis, F, N, S	DNA (cytosine-5-)-methyltransferase 3 alpha				L	L			AML		0				1021						c.(1192-1194)gCc>gTc		DNA (cytosine-5-)-methyltransferase 3 alpha							81.0	79.0	80.0					2																	25469575		2203	4299	6502	SO:0001583	missense	1788	0	0					g.chr2:25469575G>A		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.1193C>T	chr2.hg19:g.25469575G>A	ENSP00000264709:p.Ala398Val	1					DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V	p.A398V	NM_175629.2	NP_783328.1	1	2	3	2.183349	Q9Y6K1	DNM3A_HUMAN		10	1530	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	1	1	hg19	c.1193C>T	CCDS33157.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696275	0.48202	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.138248	0.49305	D	0.000144	D	0.90587	0.7049	N	0.08118	0	0.80722	D	1	B;B	0.21225	0.002;0.053	B;B	0.08055	0.0;0.003	D	0.87477	0.2418	10	0.54805	T	0.06	-5.7502	15.5438	0.76077	0.0:0.0:1.0:0.0	.	398;209	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	209;398;398;175	ENSP00000370122:A209V;ENSP00000324375:A398V;ENSP00000264709:A398V;ENSP00000384237:A175V	ENSP00000264709:A398V	A	-	2	0	0	DNMT3A	25323079	25323079	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	4.409000	0.59768	2.535000	0.85469	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	1		2	2	2	0		0	0	114		114	111	1	2.060000	-11.675800	1	0.170000	NM_022552			56	56		729	719	0		1	1		0	0	114	0		1	7.240957e-01	0	2	0	33	0	56	729
DTNB	1838	broad.mit.edu	37	2	25650421	25650421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25650421G>T	ENST00000406818.3	-	15	1786	c.1537C>A	c.(1537-1539)Ctg>Atg	p.L513M	DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	513						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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)					AACTTCATCAGCTCTTCCAGC	0.562																																						ENST00000406818.3	0.550000	0.130000	4.200000e-01	2.000000e-01	0.290000	0.317823	0.290000	0.270000																										0				11						c.(1537-1539)Ctg>Atg		dystrobrevin, beta							72.0	78.0	76.0					2																	25650421		2077	4226	6303	SO:0001583	missense	1838	0	0					g.chr2:25650421G>T	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.1537C>A	chr2.hg19:g.25650421G>T	ENSP00000384084:p.Leu513Met	1					DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M	p.L513M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	1	2	3	2.183349	O60941	DTNB_HUMAN		15	1786	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	0	1	hg19	c.1537C>A	CCDS46237.1	0	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013511	0.54468	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.73152	0.7;0.81;0.54;0.87;0.55;0.7;0.66;0.57;-0.72	5.79	4.91	0.64330	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	L	0.61218	1.895	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.997;0.991;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.988;0.973;0.988;0.998;0.984;0.953;0.953;0.972;0.984;0.978;0.995;0.988;0.999;0.972	D	0.83885	0.0281	10	0.87932	D	0	-13.0937	16.7198	0.85407	0.0693:0.0:0.9307:0.0	.	513;309;456;513;513;513;456;483;483;483;513;513;513;513	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	M	456;513;513;513;483;483;483;513;309	ENSP00000444463:L456M;ENSP00000384084:L513M;ENSP00000385482:L513M;ENSP00000385193:L513M;ENSP00000384767:L483M;ENSP00000384787:L483M;ENSP00000385784:L483M;ENSP00000288642:L513M;ENSP00000444961:L309M	ENSP00000288642:L513M	L	-	1	2	2	DTNB	25503925	25503925	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.385000	0.66231	0.806000	0.34183	-0.797000	0.03246	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	0	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-7.680177	1	0.170000	NM_033147			7	7		309	301	0		1	1		0	0	40	0		9.790729e-01	3.274932e-01	0	2	0	45	0	7	309
DTNB	1838	broad.mit.edu	37	2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	42						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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)					TTGTACAAATCGTAATTTGCA	0.343																																						ENST00000406818.3	1.000000	0.770000	1	9.900000e-01	0.990000	0.986209	0.990000	1.000000																										0				11						c.(124-126)cGa>cAa		dystrobrevin, beta							86.0	84.0	85.0					2																	25861906		1851	4096	5947	SO:0001583	missense	1838	0	0					g.chr2:25861906C>T	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.125G>A	chr2.hg19:g.25861906C>T	ENSP00000384084:p.Arg42Gln	1					DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q	p.R42Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	1	2	3	2.183349	O60941	DTNB_HUMAN		3	374	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	0	1	hg19	c.125G>A	CCDS46237.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.244952	0.95272	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.96	5.96	0.96718	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.75150	2.29	0.80722	D	1	D;P;D;D;D;D;P;P	0.89917	0.995;0.884;0.998;1.0;1.0;1.0;0.916;0.875	P;P;P;D;D;D;P;B	0.81914	0.823;0.473;0.899;0.995;0.98;0.99;0.493;0.383	T	0.81745	-0.0792	10	0.54805	T	0.06	-7.3487	17.1412	0.86754	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42;42;42	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	42	ENSP00000384084:R42Q;ENSP00000385482:R42Q;ENSP00000385193:R42Q;ENSP00000384767:R42Q;ENSP00000384787:R42Q;ENSP00000385784:R42Q;ENSP00000288642:R42Q;ENSP00000306529:R42Q;ENSP00000340957:R42Q	ENSP00000288642:R42Q	R	-	2	0	0	DTNB	25715410	25715410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-13.750340	1	0.170000	NM_033147			7	7		47	45	1		1	1		0	0	18	0		9.805682e-01	9.818762e-01	0	12	0	41	0	7	47
ASXL2	55252	broad.mit.edu	37	2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1325					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)			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)					CTATAGCTTGGCCCTATCTGG	0.532																																						ENST00000435504.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				33						c.(3973-3975)Cca>Tca		additional sex combs like transcriptional regulator 2							31.0	30.0	30.0					2																	25965233		1946	4137	6083	SO:0001583	missense	55252	1	120862	29				g.chr2:25965233G>A			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.3973C>T	chr2.hg19:g.25965233G>A	ENSP00000391447:p.Pro1325Ser	1					ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S	p.P1325S			1	2	3	2.183349	Q76L83	ASXL2_HUMAN		13	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	1	1	hg19	c.3973C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141906	0.37825	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.24;2.24;2.2;2.2	6.03	5.14	0.70334	6.03	5.14	0.70334	.	0.166625	0.53938	D	0.000047	T	0.36552	0.0971	L	0.55103	1.725	0.25005	N	0.991446	D;B	0.89917	1.0;0.162	D;B	0.87578	0.998;0.055	T	0.18209	-1.0344	10	0.22706	T	0.39	-10.6364	9.4576	0.38764	0.0746:0.1453:0.7801:0.0	.	808;1325	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	1325;1297;808;808	ENSP00000391447:P1325S;ENSP00000337250:P1297S;ENSP00000383920:P808S;ENSP00000272341:P808S	ENSP00000272341:P808S	P	-	1	0	0	ASXL2	25818737	25818737	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.564000	0.36375	1.524000	0.49035	0.655000	0.94253	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_018263			26	26		138	135	1		1	1		0	0	28	0		9.999999e-01	9.922491e-01	0	6	0	37	0	26	138
ASXL2	55252	broad.mit.edu	37	2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F|ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	419					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)			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)					ATTCTGATAAGAGAGGCCTCT	0.438																																						ENST00000435504.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1255-1257)Ctt>Ttt		additional sex combs like transcriptional regulator 2							255.0	243.0	246.0					2																	25973170		1862	4111	5973	SO:0001583	missense	55252	0	0					g.chr2:25973170G>A			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.1255C>T	chr2.hg19:g.25973170G>A	ENSP00000391447:p.Leu419Phe	1					ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F	p.L419F			1	2	3	2.183349	Q76L83	ASXL2_HUMAN		12	1548	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	1	1	hg19	c.1255C>T		1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412728	0.25465	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.79	3.93	0.45458	5.79	3.93	0.45458	.	0.556047	0.19778	N	0.106299	T	0.09069	0.0224	N	0.08118	0	0.22305	N	0.999212	B;P	0.44877	0.379;0.845	B;B	0.41619	0.082;0.361	T	0.11717	-1.0576	10	0.45353	T	0.12	-0.6765	8.2328	0.31608	0.082:0.0:0.7593:0.1587	.	159;419	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	419;391;159;159	ENSP00000391447:L419F;ENSP00000337250:L391F;ENSP00000383920:L159F;ENSP00000272341:L159F	ENSP00000272341:L159F	L	-	1	0	0	ASXL2	25826674	25826674	0.394000	0.25246	0.851000	0.33527	0.251000	0.25915	2.011000	0.40922	1.381000	0.46364	0.591000	0.81541	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	1	0	1		2	2	2	0		0	0	214		214	214	1	2.060000	-20.000000	1	0.170000	NM_018263			237	234		1079	1052	1		1	1		0	0	214	0		1	9.996675e-01	0	11	0	43	0	237	1079
KIF3C	3797	broad.mit.edu	37	2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	269	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632																																						ENST00000264712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(805-807)tCg>tTg		kinesin family member 3C		G	LEU/SER	0,4398		0,0,2199	33.0	35.0	34.0		806	2.9	0.0	2	dbSNP_134	34	1,8573		0,1,4286	no	missense	KIF3C	NM_002254.6	145	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	benign	269/794	26203981	1,12971	2199	4287	6486	SO:0001583	missense	3797	21	121392	44				g.chr2:26203981G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.806C>T	chr2.hg19:g.26203981G>A	ENSP00000264712:p.Ser269Leu	1					KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	p.S269L	NM_002254.6	NP_002245	1	2	3	2.183349	O14782	KIF3C_HUMAN		1	1385	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	1	1	hg19	c.806C>T	CCDS1719.1	1	.	.	.	.	.	.	.	.	.	.	G	1.286	-0.608905	0.03690	0.0	1.17E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.67	2.92	0.33932	5.67	2.92	0.33932	Kinesin, motor domain (3);	1.216860	0.05796	N	0.611221	T	0.58192	0.2105	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50154	-0.8861	10	0.72032	D	0.01	.	7.063	0.25137	0.2702:0.0:0.7298:0.0	.	269;269	B7ZM25;O14782	.;KIF3C_HUMAN	L	269;75;269	ENSP00000264712:S269L;ENSP00000385030:S269L	ENSP00000264712:S269L	S	-	2	0	0	KIF3C	26057485	26057485	0.112000	0.22096	0.001000	0.08648	0.012000	0.07955	2.075000	0.41538	0.761000	0.33130	0.655000	0.94253	TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1	1	0	1		2	2	2	0		0	0	50		50	45	1	2.060000	-20.000000	1	0.170000				56	55		302	287	1		1	1		0	0	50	0		1	7.958471e-01	0	5	0	13	0	56	302
RAB10	10890	broad.mit.edu	37	2	26350742	26350742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26350742G>A	ENST00000264710.4	+	5	940	c.441G>A	c.(439-441)agG>agA	p.R147R	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	147					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTATTAGGTTTTTTGAGA	0.348																																						ENST00000264710.4	0.470000	0.140000	3.800000e-01	2.000000e-01	0.280000	0.296114	0.280000	0.270000																										0				3						c.(439-441)agG>agA		RAB10, member RAS oncogene family							168.0	161.0	164.0					2																	26350742		2203	4300	6503	SO:0001819	synonymous_variant	10890	0	0					g.chr2:26350742G>A	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.441G>A	chr2.hg19:g.26350742G>A		1					RAB10_ENST00000462003.1_3'UTR	p.R147R	NM_016131.4	NP_057215.3	1	2	3	2.183349	P61026	RAB10_HUMAN		5	940	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	ENST00000264710.4	0	1	hg19	c.441G>A	CCDS1720.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-2.332587	0	0.170000	NM_016131			11	11		501	493	0		1	1		0	0	83	0		9.982145e-01	9.998711e-01	0	58	0	709	0	11	501
HADHA	3030	broad.mit.edu	37	2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	281					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)			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)					TTTTGTAAACCTGTTGCCTGA	0.363																																						ENST00000380649.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(841-843)caG>caT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit							146.0	135.0	139.0					2																	26437387		2203	4300	6503	SO:0001583	missense	3030	0	0					g.chr2:26437387C>A	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.843G>T	chr2.hg19:g.26437387C>A	ENSP00000370023:p.Gln281His	1					HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	p.Q281H	NM_000182.4	NP_000173.2	1	2	3	2.183349	P40939	ECHA_HUMAN		9	972	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	1	1	hg19	c.843G>T	CCDS1721.1	1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053627	0.36277	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.72051	-0.62;-0.62	5.64	0.734	0.18294	5.64	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.80982	2.52	0.53005	D	0.99996	P;P;P	0.45011	0.848;0.844;0.844	P;P;P	0.51055	0.652;0.657;0.657	T	0.65340	-0.6192	10	0.27785	T	0.31	-21.0299	4.6841	0.12750	0.138:0.4851:0.0:0.377	.	194;281;281	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	H	281;194	ENSP00000370023:Q281H;ENSP00000405344:Q194H	ENSP00000370023:Q281H	Q	-	3	2	2	HADHA	26290891	26290891	0.719000	0.27986	0.264000	0.24511	0.980000	0.70556	0.215000	0.17562	-0.075000	0.12798	-0.143000	0.13931	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-7.630525	1	0.170000	NM_000182			126	125		322	318	1		1	1		0	0	75	0		1	1	0	236	0	479	0	126	322
HADHB	3032	broad.mit.edu	37	2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	163					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433																																						ENST00000317799.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999132	0.990000	1.000000																										0				19						c.(487-489)Ggt>Agt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							237.0	224.0	228.0					2																	26501526		2203	4300	6503	SO:0001583	missense	3032	0	0					g.chr2:26501526G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.487G>A	chr2.hg19:g.26501526G>A	ENSP00000325136:p.Gly163Ser	1					HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	p.G163S	NM_000183.2	NP_000174.1	1	2	3	2.183349	P55084	ECHB_HUMAN		8	591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	1	1	hg19	c.487G>A	CCDS1722.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.465686	0.96257	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.44	5.44	0.79542	5.44	5.44	0.79542	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.95611	3.695	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	0.98302	1.0519	9	.	.	.	-19.9874	18.186	0.89793	0.0:0.0:1.0:0.0	.	148;141;163	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	163;148;141;163	ENSP00000325136:G163S;ENSP00000444295:G148S;ENSP00000442665:G141S;ENSP00000404633:G163S	.	G	+	1	0	0	HADHB	26355030	26355030	1.000000	0.71417	0.995000	0.50966	0.704000	0.40688	9.759000	0.98931	2.708000	0.92522	0.650000	0.86243	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.017764	1	0.170000	NM_000183			53	49		455	435	1		1	1		0	0	78	0		1	1	0	77	0	354	0	53	455
HADHB	3032	broad.mit.edu	37	2	26501669	26501669	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000537713.1_Splice_Site_p.E195D|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	210					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418																																						ENST00000317799.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(628-630)gaG>gaT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							111.0	111.0	111.0					2																	26501669		2203	4300	6503	SO:0001630	splice_region_variant	3032	0	0					g.chr2:26501669G>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.630+1G>T	chr2.hg19:g.26501669G>T		1					HADHB_ENST00000537713.1_Splice_Site_p.E195D|HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	p.E210D	NM_000183.2	NP_000174.1	1	2	3	2.183349	P55084	ECHB_HUMAN		8	734	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Splice_Site	SNP	ENST00000317799.5	1	0	hg19	c.630G>T	CCDS1722.1	1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845401	0.71603	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.93426	-3.21;-3.22;-3.2	5.06	5.06	0.68205	5.06	5.06	0.68205	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35944	0.529;0.337;0.337	B;B;B	0.37943	0.248;0.261;0.261	D	0.89801	0.3975	9	.	.	.	-22.557	17.5149	0.87770	0.0:0.0:1.0:0.0	.	195;188;210	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	D	210;195;188	ENSP00000325136:E210D;ENSP00000444295:E195D;ENSP00000442665:E188D	.	E	+	3	2	2	HADHB	26355173	26355173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.495000	0.97964	2.788000	0.95919	0.650000	0.86243	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.091417	1	0.170000	NM_000183	Missense_Mutation		100	99		488	475	1		1	0		0	0	81	0		1	1	0	0	0	501	0	100	488
GPR113	165082	broad.mit.edu	37	2	26534302	26534302	+	Missense_Mutation	SNP	G	G	A	rs116030611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26534302G>A	ENST00000311519.1	-	11	2293	c.2294C>T	c.(2293-2295)cCg>cTg	p.P765L	GPR113_ENST00000421160.2_Missense_Mutation_p.P696L|GPR113_ENST00000333478.6_Missense_Mutation_p.P566L|GPR113_ENST00000541401.1_Missense_Mutation_p.P368L|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	765				P -> S (in Ref. 4; BAG57276). {ECO:0000305}.	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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTTCCGGAACAGTGTG	0.627													G|||	46	0.0091853	0.0272	0.0029	5008	,	,		18328	0.0069		0.001	False		,,,				2504	0.0					ENST00000311519.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2293-2295)cCg>cTg		G protein-coupled receptor 113		G	LEU/PRO,LEU/PRO,LEU/PRO	108,4298	84.4+/-122.9	2,104,2097	98.0	110.0	106.0		2294,2087,1697	3.1	0.0	2	dbSNP_132	106	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	98,98,98	2,106,6395	AA,AG,GG		0.0233,2.4512,0.8458	probably-damaging,probably-damaging,probably-damaging	765/1080,696/998,566/874	26534302	110,12896	2203	4300	6503	SO:0001583	missense	165082	361	121408	59				g.chr2:26534302G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2294C>T	chr2.hg19:g.26534302G>A	ENSP00000307831:p.Pro765Leu	1					GPR113_ENST00000333478.6_Missense_Mutation_p.P566L|GPR113_ENST00000541401.1_Missense_Mutation_p.P368L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.P696L	p.P765L	NM_001145168.1	NP_001138640.1	1	2	3	2.183349	Q8IZF5	GP113_HUMAN		11	2293	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	1	0	hg19	c.2294C>T	CCDS46239.1	1	23	0.010531135531135532	17	0.034552845528455285	1	0.0027624309392265192	4	0.006993006993006993	1	0.0013192612137203166	G	10.27	1.303444	0.23736	0.024512	2.33E-4	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.33654	1.42;1.42;1.44;1.4	5.85	3.1	0.35709	5.85	3.1	0.35709	.	.	.	.	.	T	0.20007	0.0481	M	0.63843	1.955	0.19945	N	0.999947	P;P;P;D	0.60160	0.807;0.931;0.886;0.987	B;B;B;P	0.53224	0.265;0.354;0.253;0.721	T	0.11743	-1.0575	9	0.54805	T	0.06	-4.4339	5.0572	0.14539	0.154:0.0:0.5522:0.2938	.	696;566;765;368	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	L	368;566;696;765	ENSP00000445729:P368L;ENSP00000327396:P566L;ENSP00000388537:P696L;ENSP00000307831:P765L	ENSP00000307831:P765L	P	-	2	0	0	GPR113	26387806	26387806	0.271000	0.24162	0.006000	0.13384	0.001000	0.01503	2.436000	0.44819	0.406000	0.25560	-0.141000	0.14075	CCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-2.352653	0	0.170000	NM_153835			177	177		479	467	1		1	0		0	0	123	0		1	0	0	0	0	1	0	177	479
GPR113	165082	broad.mit.edu	37	2	26535831	26535831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26535831G>T	ENST00000311519.1	-	10	1632	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I	GPR113_ENST00000421160.2_Missense_Mutation_p.L476I|GPR113_ENST00000333478.6_Missense_Mutation_p.L346I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	545					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGTCAAGCTGTATTCTG	0.617																																						ENST00000311519.1	1.000000	0.340000	1	5.200000e-01	0.750000	0.754823	0.750000	1.000000																										0				24						c.(1633-1635)Ctt>Att		G protein-coupled receptor 113							82.0	76.0	78.0					2																	26535831		2203	4300	6503	SO:0001583	missense	165082	0	0					g.chr2:26535831G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1633C>A	chr2.hg19:g.26535831G>T	ENSP00000307831:p.Leu545Ile	1					GPR113_ENST00000333478.6_Missense_Mutation_p.L346I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I	p.L545I	NM_001145168.1	NP_001138640.1	1	2	3	2.183349	Q8IZF5	GP113_HUMAN		10	1632	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	0	1	hg19	c.1633C>A	CCDS46239.1	0	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433745	0.62955	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.52	5.52	0.82312	5.52	5.52	0.82312	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.25044	0.0608	M	0.66939	2.045	0.80722	D	1	B;P;B;B	0.36110	0.236;0.537;0.392;0.094	B;B;B;B	0.44224	0.444;0.316;0.444;0.234	T	0.00589	-1.1656	9	0.56958	D	0.05	-17.2314	15.283	0.73801	0.0:0.0:1.0:0.0	.	476;346;545;148	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	I	148;346;476;545	ENSP00000445729:L148I;ENSP00000327396:L346I;ENSP00000388537:L476I;ENSP00000307831:L545I	ENSP00000307831:L545I	L	-	1	0	0	GPR113	26389335	26389335	0.990000	0.36364	0.118000	0.21660	0.225000	0.24961	4.891000	0.63185	2.761000	0.94854	0.655000	0.94253	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-10.733610	1	0.170000	NM_153835			7	7		116	115	0		1			0	0	18	0		9.810604e-01	0	0	0	0	0	0	7	116
OTOF	9381	broad.mit.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	rs397515596		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					GGCAAAGAGGCTGCGGGCCTG	0.652																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(2911-2913)aGc>aTc		otoferlin							43.0	39.0	40.0					2																	26698861		2201	4295	6496	SO:0001583	missense	9381	0	0					g.chr2:26698861C>A	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.2912G>T	chr2.hg19:g.26698861C>A	ENSP00000272371:p.Ser971Ile	1					OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	p.S971I	NM_194248.2	NP_919224.1	1	2	3	2.183349	Q9HC10	OTOF_HUMAN		24	3038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	1	1	hg19	c.2912G>T	CCDS1725.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	0	OTOF	26552365	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				38	35		113	112	1		1	0		0	0	27	0		1	6.620830e-02	0	1	0	1	0	38	113
OTOF	9381	broad.mit.edu	37	2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	525					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)			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)					TGACCTTTGTCTCCGTCATTA	0.572																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(1573-1575)Gac>Aac		otoferlin							69.0	64.0	65.0					2																	26705280		2203	4299	6502	SO:0001583	missense	9381	0	0					g.chr2:26705280C>T	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.1573G>A	chr2.hg19:g.26705280C>T	ENSP00000272371:p.Asp525Asn	1					OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	p.D525N	NM_194248.2	NP_919224.1	1	2	3	2.183349	Q9HC10	OTOF_HUMAN		14	1699	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	1	1	hg19	c.1573G>A	CCDS1725.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.272530	0.95429	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80738	-1.41;-1.41	5.13	5.13	0.70059	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049114	0.85682	D	0.000000	D	0.89536	0.6743	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88357	0.2985	10	0.33940	T	0.23	-40.0469	18.1792	0.89772	0.0:1.0:0.0:0.0	.	525	Q9HC10	OTOF_HUMAN	N	525	ENSP00000272371:D525N;ENSP00000385255:D525N	ENSP00000272371:D525N	D	-	1	0	0	OTOF	26558784	26558784	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.770000	0.85390	2.396000	0.81511	0.561000	0.74099	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				92	91		295	286	1		1			0	0	68	0		1	0	0	0	0	0	0	92	295
OTOF	9381	broad.mit.edu	37	2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					GGGCCGCCCAGCACTTGGCTC	0.552																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				106						c.(742-744)gCt>gTt		otoferlin							91.0	81.0	84.0					2																	26724644		2203	4300	6503	SO:0001583	missense	9381	0	0					g.chr2:26724644G>A	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.743C>T	chr2.hg19:g.26724644G>A	ENSP00000272371:p.Ala248Val	1					OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	p.A248V	NM_194248.2	NP_919224.1	1	2	3	2.183349	Q9HC10	OTOF_HUMAN		8	869	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	1	1	hg19	c.743C>T	CCDS1725.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248471	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	5.81	5.81	0.92471	C2 membrane targeting protein (1);	0.048531	0.85682	D	0.000000	T	0.78629	0.4313	L	0.47716	1.5	0.54753	D	0.999984	P	0.46395	0.877	B	0.43360	0.417	T	0.76421	-0.2965	10	0.30078	T	0.28	-14.7144	18.6464	0.91411	0.0:0.0:1.0:0.0	.	248	Q9HC10	OTOF_HUMAN	V	248	ENSP00000272371:A248V;ENSP00000385255:A248V	ENSP00000272371:A248V	A	-	2	0	0	OTOF	26578148	26578148	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.471000	0.97696	2.746000	0.94184	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-19.992220	1	0.170000				46	44		268	260	1		1			0	0	67	0		1	0	0	0	0	0	0	46	268
C2orf70	339778	broad.mit.edu	37	2	26798779	26798779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26798779C>T	ENST00000329615.3	+	2	115	c.84C>T	c.(82-84)ggC>ggT	p.G28G	C2orf70_ENST00000409392.1_Missense_Mutation_p.P16S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	28						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GGTACCAGGGCCACGTCCCCA	0.612																																						ENST00000329615.3	0.770000	0.280000	6.300000e-01	3.700000e-01	0.490000	0.510138	0.490000	0.480000																										0				13						c.(82-84)ggC>ggT		chromosome 2 open reading frame 70							47.0	51.0	50.0					2																	26798779		2044	4181	6225	SO:0001819	synonymous_variant	339778	0	0					g.chr2:26798779C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.84C>T	chr2.hg19:g.26798779C>T		1					C2orf70_ENST00000409392.1_Missense_Mutation_p.P16S	p.G28G	NM_001105519.1	NP_001098989.1	1	2	3	2.183349	A6NJV1	CB070_HUMAN		2	115	+				Silent	SNP	ENST00000329615.3	0	1	hg19	c.84C>T	CCDS42661.1	0	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257120	0.10239	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	3.6	0.41247	4.5	3.6	0.41247	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	T	0.40117	-0.9580	5	0.87932	D	0	-27.9536	11.0531	0.47903	0.0:0.8991:0.0:0.1009	.	.	.	.	S	16	.	ENSP00000386615:P16S	P	+	1	0	0	C2orf70	26652283	26652283	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	0.379000	0.20585	2.196000	0.70406	0.462000	0.41574	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.390538	1	0.170000	NM_001105519			14	14		356	344	0		1	0		0	0	55	0		9.997002e-01	4.978951e-03	0	0	0	3	0	14	356
KCNK3	3777	broad.mit.edu	37	2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	90					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)			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)	CGCCATCACCGTCATCACCAC	0.746																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(268-270)Gtc>Atc		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						16.0	18.0	17.0					2																	26916011		2151	4237	6388	SO:0001583	missense	3777	0	0					g.chr2:26916011G>A	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.268G>A	chr2.hg19:g.26916011G>A	ENSP00000306275:p.Val90Ile	1						p.V90I	NM_002246.2	NP_002237.1	1	2	3	2.183349	O14649	KCNK3_HUMAN		1	393	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	1	1	hg19	c.268G>A	CCDS1727.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419167	0.83559	.	.	ENSG00000171303	ENST00000302909	T	0.24908	1.83	3.15	3.15	0.36227	3.15	3.15	0.36227	Ion transport 2 (1);	0.000000	0.64402	D	0.000006	T	0.43211	0.1237	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.41840	-0.9486	10	0.87932	D	0	.	11.793	0.52080	0.0:0.0:1.0:0.0	.	90	O14649	KCNK3_HUMAN	I	90	ENSP00000306275:V90I	ENSP00000306275:V90I	V	+	1	0	0	KCNK3	26769515	26769515	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.776000	0.91776	1.625000	0.50366	0.305000	0.20034	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	0	0	1		20	2	2	1		1	1	59		59	58	1	2.060000	-12.000080	1	0.170000	NM_002246			129	123		267	251	0		1	0		1	0	59	0		1	1.072405e-01	0	0	0	2	0	129	267
KCNK3	3777	broad.mit.edu	37	2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					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)			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)	GCTGGGCATGCGGCGCGCCGA	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(448-450)Cgg>Tgg		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						71.0	66.0	68.0					2																	26950699		2203	4300	6503	SO:0001583	missense	3777	1	121402	25				g.chr2:26950699C>T	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.448C>T	chr2.hg19:g.26950699C>T	ENSP00000306275:p.Arg150Trp	1						p.R150W	NM_002246.2	NP_002237.1	1	2	3	2.183349	O14649	KCNK3_HUMAN		2	573	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	1	1	hg19	c.448C>T	CCDS1727.1	1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754335	0.69648	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22945	1.93	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.83483	2.645	0.47511	D	0.999448	D	0.76494	0.999	D	0.67548	0.952	T	0.55860	-0.8074	10	0.87932	D	0	.	11.7912	0.52070	0.1755:0.8245:0.0:0.0	.	150	O14649	KCNK3_HUMAN	W	27;150	ENSP00000306275:R150W	ENSP00000306275:R150W	R	+	1	2	2	KCNK3	26804203	26804203	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	2.619000	0.88677	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1		2	2	2	0		0	0	62		62	59	1	2.060000	-2.792925	1	0.170000	NM_002246			105	103		482	474	1		1	0		0	0	62	0		1	7.047611e-01	0	0	0	13	0	105	482
KCNK3	3777	broad.mit.edu	37	2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	216					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)			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)	GCCCTGCAGACGCAGCCGCAG	0.607																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(646-648)aCg>aTg		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						80.0	63.0	69.0					2																	26950898		2203	4300	6503	SO:0001583	missense	3777	0	0					g.chr2:26950898C>T	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.647C>T	chr2.hg19:g.26950898C>T	ENSP00000306275:p.Thr216Met	1						p.T216M	NM_002246.2	NP_002237.1	1	2	3	2.183349	O14649	KCNK3_HUMAN		2	772	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	1	1	hg19	c.647C>T	CCDS1727.1	1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.341845	0.61073	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.25250	1.81	4.72	4.72	0.59763	4.72	4.72	0.59763	Ion transport 2 (1);	0.255913	0.36893	N	0.002358	T	0.36441	0.0967	L	0.38175	1.15	0.46044	D	0.99883	P	0.50272	0.933	P	0.56788	0.806	T	0.11991	-1.0565	10	0.62326	D	0.03	.	15.5289	0.75936	0.0:1.0:0.0:0.0	.	216	O14649	KCNK3_HUMAN	M	93;216	ENSP00000306275:T216M	ENSP00000306275:T216M	T	+	2	0	0	KCNK3	26804402	26804402	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	1.475000	0.35409	2.303000	0.77524	0.556000	0.70494	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_002246			42	42		218	217	1		1	0		0	0	40	0		1	4.468108e-01	0	0	0	9	0	42	218
KCNK3	3777	broad.mit.edu	37	2	26951010	26951010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	ENST00000302909.3	+	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	253					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)			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)	ACGCCGAGGACGAGAAGCGCG	0.682																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(757-759)gaC>gaT		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						47.0	35.0	39.0					2																	26951010		2201	4299	6500	SO:0001819	synonymous_variant	3777	3	120744	24				g.chr2:26951010C>T	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.759C>T	chr2.hg19:g.26951010C>T		1						p.D253D	NM_002246.2	NP_002237.1	1	2	3	2.183349	O14649	KCNK3_HUMAN		2	884	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Silent	SNP	ENST00000302909.3	0	1	hg19	c.759C>T	CCDS1727.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_002246			31	31		48	48	0		1	0		0	0	9	0		1	8.768737e-01	0	0	0	8	0	31	48
KCNK3	3777	broad.mit.edu	37	2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	363					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)			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)	CGCTGCCTGTGCAGCGGGGCG	0.716																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				14						c.(1087-1089)tGc>tAc		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						11.0	10.0	10.0					2																	26951339		2179	4255	6434	SO:0001583	missense	3777	0	0					g.chr2:26951339G>A	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.1088G>A	chr2.hg19:g.26951339G>A	ENSP00000306275:p.Cys363Tyr	1						p.C363Y	NM_002246.2	NP_002237.1	1	2	3	2.183349	O14649	KCNK3_HUMAN		2	1213	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	1	1	hg19	c.1088G>A	CCDS1727.1	1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202469	0.58234	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22134	1.97	3.35	3.35	0.38373	3.35	3.35	0.38373	.	1.338500	0.04478	N	0.377265	T	0.34571	0.0902	L	0.55481	1.735	0.51482	D	0.999926	D	0.69078	0.997	P	0.60682	0.878	T	0.54289	-0.8316	10	0.02654	T	1	.	10.5589	0.45133	0.0:0.0:1.0:0.0	.	363	O14649	KCNK3_HUMAN	Y	240;363	ENSP00000306275:C363Y	ENSP00000306275:C363Y	C	+	2	0	0	KCNK3	26804843	26804843	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.760000	0.62235	2.198000	0.70561	0.555000	0.69702	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_002246			14	14		40	39	0		1			0	0	13	0		9.998702e-01	0	0	0	0	0	0	14	40
DPYSL5	56896	broad.mit.edu	37	2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	230					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	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)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502																																						ENST00000288699.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(688-690)Cat>Tat		dihydropyrimidinase-like 5							221.0	190.0	200.0					2																	27154526		2203	4300	6503	SO:0001583	missense	56896	0	0					g.chr2:27154526C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.688C>T	chr2.hg19:g.27154526C>T	ENSP00000288699:p.His230Tyr	1					DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	1	2	3	2.183349	Q9BPU6	DPYL5_HUMAN		6	846	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	1	1	hg19	c.688C>T	CCDS1730.1	1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267448	0.40095	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89746	-2.56;-2.56	6.08	6.08	0.98989	6.08	6.08	0.98989	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.20483	0.58	0.54753	D	0.999989	B	0.13594	0.008	B	0.20577	0.03	T	0.74819	-0.3535	10	0.05351	T	0.99	-23.087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	230	Q9BPU6	DPYL5_HUMAN	Y	230	ENSP00000288699:H230Y;ENSP00000385549:H230Y	ENSP00000288699:H230Y	H	+	1	0	0	DPYSL5	27008030	27008030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.894000	0.99253	0.591000	0.81541	CAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-5.006820	1	0.170000	NM_020134			80	79		243	229	1		1			0	0	60	0		1	0	0	0	0	0	0	80	243
MAPRE3	22924	broad.mit.edu	37	2	27247044	27247044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27247044C>T	ENST00000233121.2	+	4	546	c.348C>T	c.(346-348)gaC>gaT	p.D116D	MAPRE3_ENST00000402218.1_Silent_p.D116D|MAPRE3_ENST00000405074.3_Silent_p.D116D			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTCTTTGACGCAAACTATG	0.423																																						ENST00000233121.2	0.650000	0.200000	5.200000e-01	2.900000e-01	0.390000	0.413657	0.390000	0.390000																										0				13						c.(346-348)gaC>gaT		microtubule-associated protein, RP/EB family, member 3							58.0	60.0	59.0					2																	27247044		2203	4300	6503	SO:0001819	synonymous_variant	22924	3	121412	33				g.chr2:27247044C>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.348C>T	chr2.hg19:g.27247044C>T		1					MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D	p.D116D			1	2	3	2.183349	Q9UPY8	MARE3_HUMAN		4	546	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	1	1	hg19	c.348C>T	CCDS1731.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	0	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-11.038350	1	0.170000	NM_012326			11	11		354	349	0		1	1		0	0	54	0		9.982650e-01	5.244390e-01	0	2	0	53	0	11	354
TMEM214	54867	broad.mit.edu	37	2	27256991	27256991	+	Missense_Mutation	SNP	C	C	T	rs199619457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27256991C>T	ENST00000238788.9	+	2	270	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	70					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TATCATGAAGCGGCAGAATAA	0.532																																						ENST00000238788.9	0.650000	0.260000	5.500000e-01	3.400000e-01	0.430000	0.449726	0.430000	0.420000																										0				18						c.(208-210)Cgg>Tgg		transmembrane protein 214							95.0	96.0	96.0					2																	27256991		1941	4140	6081	SO:0001583	missense	54867	2	120874	32				g.chr2:27256991C>T		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.208C>T	chr2.hg19:g.27256991C>T	ENSP00000238788:p.Arg70Trp	1					TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	p.R70W	NM_017727.4	NP_060197.4	1	2	3	2.183349	Q6NUQ4	TM214_HUMAN		2	270	+			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	1	1	hg19	c.208C>T	CCDS42664.1	0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217661	0.79352	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86627	-2.15;-2.15	5.07	1.71	0.24356	5.07	1.71	0.24356	.	0.312621	0.28712	N	0.014400	D	0.84602	0.5508	L	0.36672	1.1	0.27877	N	0.939838	D;D	0.69078	0.997;0.995	P;P	0.50708	0.648;0.639	T	0.79567	-0.1750	10	0.72032	D	0.01	-9.5612	12.3636	0.55217	0.543:0.4569:0.0:0.0	.	70;70	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	W	70	ENSP00000238788:R70W;ENSP00000384417:R70W	ENSP00000238788:R70W	R	+	1	2	2	TMEM214	27110495	27110495	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.689000	0.37700	0.455000	0.26910	0.462000	0.41574	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-3.603942	1	0.170000	NM_017727			18	18		516	509	0		1	1		0	0	101	0		9.999802e-01	9.643841e-01	0	3	0	157	0	18	516
TMEM214	54867	broad.mit.edu	37	2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567																																						ENST00000238788.9	1.000000	0.810000	1	9.400000e-01	0.990000	0.977842	0.990000	1.000000																										0				18						c.(559-561)gCg>gTg		transmembrane protein 214							107.0	111.0	110.0					2																	27258519		1944	4135	6079	SO:0001583	missense	54867	0	0					g.chr2:27258519C>T		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.560C>T	chr2.hg19:g.27258519C>T	ENSP00000238788:p.Ala187Val	1					TMEM214_ENST00000404032.3_Intron	p.A187V	NM_017727.4	NP_060197.4	1	2	3	2.183349	Q6NUQ4	TM214_HUMAN		4	622	+			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	1	1	hg19	c.560C>T	CCDS42664.1	1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596600	0.46318	.	.	ENSG00000119777	ENST00000238788	T	0.44482	0.92	5.67	3.83	0.44106	5.67	3.83	0.44106	.	0.332353	0.32273	N	0.006326	T	0.27419	0.0673	N	0.19112	0.55	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05370	-1.0889	10	0.29301	T	0.29	-0.2477	12.3036	0.54889	0.0:0.7561:0.1646:0.0794	.	187	Q6NUQ4	TM214_HUMAN	V	187	ENSP00000238788:A187V	ENSP00000238788:A187V	A	+	2	0	0	TMEM214	27112023	27112023	0.073000	0.21202	0.046000	0.18839	0.990000	0.78478	0.348000	0.20031	1.392000	0.46585	0.561000	0.74099	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-13.256160	1	0.170000	NM_017727			52	52		564	553	0		1	1		0	0	106	0		1	1	0	11	0	306	0	52	564
TMEM214	54867	broad.mit.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512																																						ENST00000238788.9	0.690000	0.150000	5.300000e-01	2.400000e-01	0.360000	0.393007	0.360000	0.330000																										1	Substitution - coding silent(1)	p.I223I(1)	kidney(1)	18						c.(667-669)atC>atT		transmembrane protein 214							98.0	99.0	99.0					2																	27258869		2114	4241	6355	SO:0001819	synonymous_variant	54867	1	121110	28				g.chr2:27258869C>T		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.669C>T	chr2.hg19:g.27258869C>T		1					TMEM214_ENST00000404032.3_Silent_p.I178I	p.I223I	NM_017727.4	NP_060197.4	1	2	3	2.183349	Q6NUQ4	TM214_HUMAN		5	731	+			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	0	1	hg19	c.669C>T	CCDS42664.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-3.439560	1	0.170000	NM_017727			6	6		216	211	0		1	1		0	0	40	0		9.630609e-01	9.933555e-01	0	2	0	350	0	6	216
TMEM214	54867	broad.mit.edu	37	2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	516					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597																																						ENST00000238788.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1546-1548)Ctt>Att		transmembrane protein 214							150.0	152.0	151.0					2																	27262629		2049	4190	6239	SO:0001583	missense	54867	0	0					g.chr2:27262629C>A		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.1546C>A	chr2.hg19:g.27262629C>A	ENSP00000238788:p.Leu516Ile	1					TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	p.L516I	NM_017727.4	NP_060197.4	1	2	3	2.183349	Q6NUQ4	TM214_HUMAN		14	1608	+			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	1	1	hg19	c.1546C>A	CCDS42664.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937911	0.73557	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135	T;T;T	0.52983	0.64;0.64;0.64	5.59	4.6	0.57074	5.59	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76328	2.33	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.67975	-0.5531	10	0.72032	D	0.01	-12.0634	10.6416	0.45596	0.0:0.8766:0.0:0.1234	.	471;516	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	I	516;471;256;176	ENSP00000238788:L516I;ENSP00000384417:L471I;ENSP00000392442:L176I	ENSP00000238788:L516I	L	+	1	0	0	TMEM214	27116133	27116133	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.541000	0.36126	2.640000	0.89533	0.561000	0.74099	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_017727			146	145		432	421	1		1	1		0	0	115	0		1	1	0	37	0	235	0	146	432
TMEM214	54867	broad.mit.edu	37	2	27263359	27263359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	646					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637																																						ENST00000238788.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1936-1938)gcA>gcG		transmembrane protein 214							53.0	52.0	52.0					2																	27263359		1985	4148	6133	SO:0001819	synonymous_variant	54867	0	0					g.chr2:27263359A>G		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.1938A>G	chr2.hg19:g.27263359A>G		1					TMEM214_ENST00000404032.3_Silent_p.A601A	p.A646A	NM_017727.4	NP_060197.4	1	2	3	2.183349	Q6NUQ4	TM214_HUMAN		16	2000	+			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	1	1	hg19	c.1938A>G	CCDS42664.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_017727			98	97		271	268	1		1	1		0	0	61	0		1	1	0	72	0	269	0	98	271
AGBL5	60509	broad.mit.edu	37	2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	638					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532																																						ENST00000360131.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1912-1914)Cgg>Tgg		ATP/GTP binding protein-like 5							79.0	87.0	84.0					2																	27282095		2203	4300	6503	SO:0001583	missense	60509	3	121412	40				g.chr2:27282095C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1912C>T	chr2.hg19:g.27282095C>T	ENSP00000353249:p.Arg638Trp	1					AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	p.R638W	NM_021831.5	NP_068603.4	1	2	3	2.183349	Q8NDL9	CBPC5_HUMAN		11	2071	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	1	1	hg19	c.1912C>T	CCDS1732.3	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002345	0.74932	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.18657	2.3;2.2	5.76	4.89	0.63831	5.76	4.89	0.63831	.	0.110266	0.64402	D	0.000005	T	0.39009	0.1062	L	0.53249	1.67	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19160	-1.0314	10	0.87932	D	0	-29.0721	9.6109	0.39663	0.14:0.7885:0.0:0.0715	.	638;638	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	W	638	ENSP00000323681:R638W;ENSP00000353249:R638W	ENSP00000323681:R638W	R	+	1	2	2	AGBL5	27135599	27135599	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.550000	0.36223	1.436000	0.47453	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	1	0	1		2	2	2	0		0	0	169		169	165	1	2.060000	-20.000000	1	0.170000	NM_021831			169	167		761	754	1		1	1		0	0	169	0		1	1	0	58	0	124	0	169	761
ABHD1	84696	broad.mit.edu	37	2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	258						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562																																						ENST00000316470.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(772-774)Ctc>Ttc		abhydrolase domain containing 1							52.0	50.0	50.0					2																	27352776		2203	4300	6503	SO:0001583	missense	84696	0	0					g.chr2:27352776C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.772C>T	chr2.hg19:g.27352776C>T	ENSP00000326491:p.Leu258Phe	1						p.L258F	NM_032604.3	NP_115993	1	2	3	2.183349	Q96SE0	ABHD1_HUMAN		6	886	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	1	1	hg19	c.772C>T	CCDS1736.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131254	0.56828	.	.	ENSG00000143994	ENST00000316470	T	0.71222	-0.55	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	D	0.88005	0.6321	M	0.93808	3.46	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	D	0.90798	0.4692	10	0.87932	D	0	-15.2943	16.0869	0.81060	0.0:1.0:0.0:0.0	.	258	Q96SE0	ABHD1_HUMAN	F	258	ENSP00000326491:L258F	ENSP00000326491:L258F	L	+	1	0	0	ABHD1	27206280	27206280	0.986000	0.35501	0.962000	0.40283	0.262000	0.26303	2.752000	0.47516	2.655000	0.90218	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_032604			41	39		187	181	1		1	1		0	0	39	0		1	4.427711e-01	0	3	0	5	0	41	187
TCF23	150921	broad.mit.edu	37	2	27372993	27372993	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657																																						ENST00000296096.5	0.560000	0.180000	4.600000e-01	2.500000e-01	0.340000	0.363675	0.340000	0.330000																										0				14						c.(223-225)agC>agT		transcription factor 23							41.0	46.0	44.0					2																	27372993		2202	4300	6502	SO:0001819	synonymous_variant	150921	4	121314	34				g.chr2:27372993C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	chr2.hg19:g.27372993C>T		1						p.S75S	NM_175769.2	NP_786951.1	1	2	3	2.183349	Q7RTU1	TCF23_HUMAN		2	355	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B2RNZ3	Silent	SNP	ENST00000296096.5	1	1	hg19	c.225C>T	CCDS33163.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.444152	1	0.170000	NM_175769			12	12		439	434	0		1			0	0	78	0		9.990785e-01	0	0	0	0	0	0	12	439
CAD	790	broad.mit.edu	37	2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000403525.1	+	11	1547	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000264705.4_Missense_Mutation_p.R468H			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.R468H(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)					CGTAATGAACGCCCCGATGGT	0.552																																						ENST00000403525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R468H(1)	endometrium(1)	92						c.(1402-1404)cGc>cAc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							82.0	75.0	77.0					2																	27447894		2203	4300	6503	SO:0001583	missense	790	0	0					g.chr2:27447894G>A	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.1403G>A	chr2.hg19:g.27447894G>A	ENSP00000384510:p.Arg468His	1					CAD_ENST00000264705.4_Missense_Mutation_p.R468H	p.R468H			1	2	3	2.183349	O76075	DFFB_HUMAN		11	1547	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	1	1	hg19	c.1403G>A		1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791593	0.90367	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95447	-3.71;-3.71	5.13	5.13	0.70059	5.13	5.13	0.70059	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.98423	1.0578	10	0.72032	D	0.01	-1.0777	17.111	0.86674	0.0:0.0:1.0:0.0	.	468;468	F8VPD4;P27708	.;PYR1_HUMAN	H	468	ENSP00000264705:R468H;ENSP00000384510:R468H	ENSP00000264705:R468H	R	+	2	0	0	CAD	27301398	27301398	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	9.229000	0.95273	2.383000	0.81215	0.462000	0.41574	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1		2	5	2	1		1	0	53		53	53	1	2.060000	-20.000000	1	0.170000				45	45		245	240	1		1	1		1	0	53	0		1	8.926488e-01	0	15	0	35	0	45	245
CAD	790	broad.mit.edu	37	2	27449826	27449826	+	Silent	SNP	C	C	T	rs542135109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000403525.1	+	14	2238	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	CAD_ENST00000264705.4_Silent_p.S761S			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)			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)					GCATGAAGAGCGTTGGTGAGA	0.527																																						ENST00000403525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(2092-2094)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							94.0	94.0	94.0					2																	27449826		2203	4300	6503	SO:0001819	synonymous_variant	790	4	121412	36				g.chr2:27449826C>T	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.2094C>T	chr2.hg19:g.27449826C>T		1					CAD_ENST00000264705.4_Silent_p.S761S	p.S698S			1	2	3	2.183349	O76075	DFFB_HUMAN		14	2238	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	1	1	hg19	c.2094C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-3.222235	1	0.170000				84	82		483	476	0		1	1		0	0	125	0		1	9.954091e-01	0	13	0	36	0	84	483
CAD	790	broad.mit.edu	37	2	27454442	27454442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000403525.1	+	15	2349	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Silent_p.S798S			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)			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)					AACCAGTCAGCGATATGGTAA	0.532																																						ENST00000403525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(2203-2205)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							122.0	101.0	108.0					2																	27454442		2203	4300	6503	SO:0001819	synonymous_variant	790	1	121412	21				g.chr2:27454442C>T	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.2205C>T	chr2.hg19:g.27454442C>T		1					CAD_ENST00000264705.4_Silent_p.S798S|CAD_ENST00000464159.1_3'UTR	p.S735S			1	2	3	2.183349	O76075	DFFB_HUMAN		15	2349	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	1	1	hg19	c.2205C>T		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.436670	1	0.170000				32	30		149	145	0		1	1		0	0	29	0		1	9.952611e-01	0	10	0	32	0	32	149
CAD	790	broad.mit.edu	37	2	27455960	27455960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000403525.1	+	18	2898	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	CAD_ENST00000264705.4_Silent_p.T981T			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)			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)					CAGTCAGCACCGACTATGACA	0.498																																						ENST00000403525.1	0.740000	0.230000	6.000000e-01	3.300000e-01	0.450000	0.469392	0.450000	0.430000																										0				92						c.(2752-2754)acC>acT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							214.0	173.0	187.0					2																	27455960		2203	4300	6503	SO:0001819	synonymous_variant	790	3	121412	31				g.chr2:27455960C>T	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.2754C>T	chr2.hg19:g.27455960C>T		1					CAD_ENST00000264705.4_Silent_p.T981T	p.T918T			1	2	3	2.183349	O76075	DFFB_HUMAN		18	2898	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	1	1	hg19	c.2754C>T		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-2.497141	0	0.170000				11	11		310	303	0		1	0		0	0	51	0		9.981990e-01	6.074938e-01	0	1	0	56	0	11	310
CAD	790	broad.mit.edu	37	2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000403525.1	+	20	3232	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CAD_ENST00000264705.4_Missense_Mutation_p.L1093M			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)			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)					CTCCTATGTGCTGAGCGGTGC	0.592																																						ENST00000403525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(3088-3090)Ctg>Atg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							69.0	71.0	71.0					2																	27456554		2203	4300	6503	SO:0001583	missense	790	0	0					g.chr2:27456554C>A	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.3088C>A	chr2.hg19:g.27456554C>A	ENSP00000384510:p.Leu1030Met	1					CAD_ENST00000264705.4_Missense_Mutation_p.L1093M	p.L1030M			1	2	3	2.183349	O76075	DFFB_HUMAN		20	3232	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	1	1	hg19	c.3088C>A		1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956543	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97976	-4.64;-4.64	5.95	5.95	0.96441	5.95	5.95	0.96441	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	-1.0788	18.9357	0.92584	0.0:1.0:0.0:0.0	.	1030;1093	F8VPD4;P27708	.;PYR1_HUMAN	M	1093;1030	ENSP00000264705:L1093M;ENSP00000384510:L1030M	ENSP00000264705:L1093M	L	+	1	2	2	CAD	27310058	27310058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.908000	0.48750	2.826000	0.97356	0.491000	0.48974	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	1		18	6	2	1		1	1	82		82	82	1	2.060000	-20.000000	1	0.170000				79	79		354	350	1		1	1		1	0	82	0		1	9.968404e-01	0	12	0	67	0	79	354
CAD	790	broad.mit.edu	37	2	27460626	27460626	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27460626T>G	ENST00000403525.1	+	28	4559	c.4415T>G	c.(4414-4416)cTt>cGt	p.L1472R	CAD_ENST00000264705.4_Missense_Mutation_p.L1535R			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)			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)					GCGCTATTCCTTGGGGCCTCG	0.617																																						ENST00000403525.1	0.520000	0.150000	4.200000e-01	2.200000e-01	0.310000	0.326317	0.310000	0.300000																										0				92						c.(4414-4416)cTt>cGt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							50.0	55.0	53.0					2																	27460626		2203	4300	6503	SO:0001583	missense	790	0	0					g.chr2:27460626T>G	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.4415T>G	chr2.hg19:g.27460626T>G	ENSP00000384510:p.Leu1472Arg	1					CAD_ENST00000264705.4_Missense_Mutation_p.L1535R	p.L1472R			1	2	3	2.183349	O76075	DFFB_HUMAN		28	4559	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	0	1	hg19	c.4415T>G		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378391|3.378391	0.61735|0.61735	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|D	0.47869|0.89196	0.83;0.83|-2.48	4.62|4.62	3.45|3.45	0.39498|0.39498	4.62|4.62	3.45|3.45	0.39498|0.39498	Amidohydrolase 1 (1);|.	0.290888|0.290888	0.33199|0.33199	N|N	0.005177|0.005177	D|D	0.84179|0.84179	0.5415|0.5415	L|L	0.51422|0.51422	1.61|1.61	0.41139|0.41139	D|D	0.985948|0.985948	B;B|.	0.33044|.	0.078;0.395|.	B;B|.	0.39805|.	0.106;0.31|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|8	0.87932|0.02654	D|T	0|1	0.1571|0.1571	9.2306|9.2306	0.37434|0.37434	0.0:0.0881:0.0:0.9119|0.0:0.0881:0.0:0.9119	.|.	1472;1535|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	R|V	1535;1472|187	ENSP00000264705:L1535R;ENSP00000384510:L1472R|ENSP00000414742:L187V	ENSP00000264705:L1535R|ENSP00000414742:L187V	L|L	+|+	2|1	0|2	0|2	CAD|CAD	27314130|27314130	27314130|27314130	1.000000|1.000000	0.71417|0.71417	0.124000|0.124000	0.21820|0.21820	0.800000|0.800000	0.45204|0.45204	5.808000|5.808000	0.69165|0.69165	0.616000|0.616000	0.30141|0.30141	0.374000|0.374000	0.22700|0.22700	CTT|TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-9.502966	1	0.170000				10	10		415	404	0		1	0		0	0	62	0		9.965253e-01	5.234890e-01	0	1	0	69	0	10	415
CAD	790	broad.mit.edu	37	2	27464813	27464813	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	ENST00000403525.1	+	38	5873	c.5729G>C	c.(5728-5730)aGc>aCc	p.S1910T	CAD_ENST00000264705.4_Missense_Mutation_p.S1973T			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)			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)					TATGAAGTGAGCACACGGACC	0.592																																						ENST00000403525.1	0.740000	0.190000	5.800000e-01	2.900000e-01	0.420000	0.444649	0.420000	0.390000																										0				92						c.(5728-5730)aGc>aCc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							62.0	52.0	56.0					2																	27464813		2203	4300	6503	SO:0001583	missense	790	0	0					g.chr2:27464813G>C	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.5729G>C	chr2.hg19:g.27464813G>C	ENSP00000384510:p.Ser1910Thr	1					CAD_ENST00000264705.4_Missense_Mutation_p.S1973T	p.S1910T			1	2	3	2.183349	O76075	DFFB_HUMAN		38	5873	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	0	1	hg19	c.5729G>C		0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.2|26.2|26.2	4.718715|4.718715|4.718715	0.89205|0.89205|0.89205	.|.|.	.|.|.	ENSG00000084774|ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000456311|ENST00000264705;ENST00000403525	.|.|D;D	.|.|0.99784	.|.|-6.74;-6.74	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.99906|0.99906|0.99906	0.9955|0.9955|0.9955	H|H|H	0.99800|0.99800|0.99800	4.79|4.79|4.79	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.997	.|.|D;D	.|.|0.97110	.|.|1.0;0.992	D|D|D	0.95862|0.95862|0.95862	0.8884|0.8884|0.8884	5|5|10	.|.|0.87932	.|.|D	.|.|0	-9.1427|-9.1427|-9.1427	16.9473|16.9473|16.9473	0.86232|0.86232|0.86232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1910;1973	.|.|F8VPD4;P27708	.|.|.;PYR1_HUMAN	P|D|T	9|277|1973;1910	.|.|ENSP00000264705:S1973T;ENSP00000384510:S1910T	.|.|ENSP00000264705:S1973T	A|E|S	+|+|+	1|3|2	0|2|0	0|2|0	CAD|CAD|CAD	27318317|27318317|27318317	27318317|27318317|27318317	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.249000|9.249000|9.249000	0.95470|0.95470|0.95470	2.347000|2.347000|2.347000	0.79759|0.79759|0.79759	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCA|GAG|AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-9.167559	1	0.170000				8	8		245	245	0		1	1		0	0	45	0		9.896891e-01	8.535084e-01	0	6	0	103	0	8	245
CAD	790	broad.mit.edu	37	2	27464907	27464907	+	Silent	SNP	C	C	T	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000403525.1	+	38	5967	c.5823C>T	c.(5821-5823)ggC>ggT	p.G1941G	CAD_ENST00000264705.4_Silent_p.G2004G			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)			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)					TCCAGAAGGGCGAATCCCTGG	0.652																																						ENST00000403525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(5821-5823)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase							50.0	45.0	47.0					2																	27464907		2203	4300	6503	SO:0001819	synonymous_variant	790	1	121410	29				g.chr2:27464907C>T	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.5823C>T	chr2.hg19:g.27464907C>T		1					CAD_ENST00000264705.4_Silent_p.G2004G	p.G1941G			1	2	3	2.183349	O76075	DFFB_HUMAN		38	5967	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	1	1	hg19	c.5823C>T		1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862142	0.17178	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.2	-6.68	0.01778	5.2	-6.68	0.01778	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-9.1727	3.1304	0.06421	0.1408:0.3731:0.0805:0.4056	rs61737366	.	.	.	V	40	.	.	A	+	2	0	0	CAD	27318411	27318411	0.008000	0.16893	0.454000	0.27019	0.797000	0.45037	-1.082000	0.03400	-1.083000	0.03097	-0.424000	0.05967	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	0		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000				89	87		266	265	1		1	1		0	0	65	0		1	1	0	34	0	44	0	89	266
SLC30A3	7781	broad.mit.edu	37	2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	269					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562																																						ENST00000233535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(805-807)aGc>aTc		solute carrier family 30 (zinc transporter), member 3							103.0	111.0	108.0					2																	27479733		2203	4300	6503	SO:0001583	missense	7781	0	0					g.chr2:27479733C>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.806G>T	chr2.hg19:g.27479733C>A	ENSP00000233535:p.Ser269Ile	1					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	p.S269I	NM_003459.4	NP_003450.2	1	2	3	2.183349	Q99726	ZNT3_HUMAN		6	1158	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	1	1	hg19	c.806G>T	CCDS1743.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135643	0.77662	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.61392	0.11;0.11;0.11	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.087859	0.85682	D	0.000000	T	0.37544	0.1007	N	0.01454	-0.855	0.49389	D	0.999782	B;B	0.26577	0.126;0.153	B;B	0.34346	0.113;0.18	T	0.49204	-0.8964	10	0.87932	D	0	-16.6047	16.9157	0.86150	0.0:1.0:0.0:0.0	.	264;269	F5H3B7;Q99726	.;ZNT3_HUMAN	I	269;264;206;220	ENSP00000233535:S269I;ENSP00000415226:S264I;ENSP00000414320:S220I	ENSP00000233535:S269I	S	-	2	0	0	SLC30A3	27333237	27333237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	2.663000	0.90544	0.555000	0.69702	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				67	64		155	151	1		1	0		0	0	36	0		1	9.309524e-02	0	0	0	2	0	67	155
SLC30A3	7781	broad.mit.edu	37	2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	206					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662																																						ENST00000233535.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998009	0.990000	1.000000																										0				20						c.(616-618)aGc>aAc		solute carrier family 30 (zinc transporter), member 3							17.0	19.0	18.0					2																	27480182		2202	4299	6501	SO:0001583	missense	7781	0	0					g.chr2:27480182C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.617G>A	chr2.hg19:g.27480182C>T	ENSP00000233535:p.Ser206Asn	1					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	p.S206N	NM_003459.4	NP_003450.2	1	2	3	2.183349	Q99726	ZNT3_HUMAN		5	969	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	1	1	hg19	c.617G>A	CCDS1743.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.80033	-0.38;-0.37;-1.31;-1.33	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.258927	0.43919	D	0.000511	D	0.83064	0.5173	M	0.63428	1.95	0.48395	D	0.999647	P;P	0.45634	0.863;0.774	P;P	0.49953	0.614;0.627	T	0.79848	-0.1630	10	0.21540	T	0.41	-15.5946	16.6802	0.85290	0.0:1.0:0.0:0.0	.	201;206	F5H3B7;Q99726	.;ZNT3_HUMAN	N	206;201;143;157;193	ENSP00000233535:S206N;ENSP00000415226:S201N;ENSP00000414320:S157N;ENSP00000393545:S193N	ENSP00000233535:S206N	S	-	2	0	0	SLC30A3	27333686	27333686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.237000	0.51344	2.605000	0.88082	0.555000	0.69702	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000				20	20		144	140	1		1	0		0	0	32	0		9.999959e-01	0	0	1	0	0	0	20	144
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	rs192714047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000406962.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498																																						ENST00000296097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(121-123)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							100.0	97.0	98.0					2																	27500629		2203	4300	6503	SO:0001583	missense	285126	6	121412	46				g.chr2:27500629G>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.121G>A	chr2.hg19:g.27500629G>A	ENSP00000296097:p.Ala41Thr	1					DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron	p.A41T	NM_173650.1	NP_775921.1	1	2	3	2.183349	Q8N7S2	DNJ5G_HUMAN		4	539	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	1	1	hg19	c.121G>A	CCDS1744.1	1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	0	DNAJC5G	27354133	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-8.327317	1	0.170000	NM_173650			149	143		391	382	1		1			0	0	128	0		1	0	0	0	0	0	0	149	391
TRIM54	57159	broad.mit.edu	37	2	27528685	27528685	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000380075.2	+	5	1183	c.843G>T	c.(841-843)caG>caT	p.Q281H	TRIM54_ENST00000296098.4_Splice_Site_p.Q323H	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	281	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607																																						ENST00000380075.2	1.000000	0.780000	1	9.900000e-01	0.990000	0.986901	0.990000	1.000000																										0				13						c.(841-843)caG>caT		tripartite motif containing 54							22.0	22.0	22.0					2																	27528685		2202	4300	6502	SO:0001630	splice_region_variant	57159	0	0					g.chr2:27528685G>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.843+1G>T	chr2.hg19:g.27528685G>T		1					TRIM54_ENST00000296098.4_Splice_Site_p.Q323H	p.Q281H	NM_187841.2	NP_912730.2	1	2	3	2.183349	Q9BYV2	TRI54_HUMAN		5	1183	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		A5D8T7|Q53SY4|Q9BYV3	Splice_Site	SNP	ENST00000380075.2	0	0	hg19	c.843G>T	CCDS1746.2	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694982	0.68386	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.54675	0.94;0.56	4.85	4.85	0.62838	4.85	4.85	0.62838	COS domain (1);	0.067207	0.64402	D	0.000009	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	B;B	0.23735	0.017;0.09	B;B	0.26202	0.047;0.067	T	0.47787	-0.9090	10	0.87932	D	0	-20.6728	15.4542	0.75299	0.0:0.0:1.0:0.0	.	281;323	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	H	281;102;323	ENSP00000369415:Q281H;ENSP00000296098:Q323H	ENSP00000296098:Q323H	Q	+	3	2	2	TRIM54	27382189	27382189	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.555000	0.98123	2.235000	0.73313	0.561000	0.74099	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-15.233330	1	0.170000	NM_187841	Missense_Mutation		8	7		56	54	1		1	0		0	0	10	0		9.889494e-01	2.035278e-02	0	0	0	2	0	8	56
GTF3C2	2976	broad.mit.edu	37	2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	732					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)				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)					GGTAATATAGCAGCAATGAGC	0.423																																						ENST00000359541.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2194-2196)Gct>Act		general transcription factor IIIC, polypeptide 2, beta 110kDa							128.0	118.0	121.0					2																	27551397		2203	4300	6503	SO:0001583	missense	2976	0	0					g.chr2:27551397C>T	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.2194G>A	chr2.hg19:g.27551397C>T	ENSP00000352536:p.Ala732Thr	1					MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T	p.A732T			1	2	3	2.183349	Q8WUA4	TF3C2_HUMAN		16	2623	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	1	1	hg19	c.2194G>A	CCDS1749.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889692|3.889692	0.72524|0.72524	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.73469|.	-0.75;-0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	5.23|5.23	5.23|5.23	0.72850|0.72850	WD40 repeat-like-containing domain (1);|.	0.331763|.	0.32935|.	N|.	0.005470|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.12182|0.12182	0.205|0.205	0.35012|0.35012	D|D	0.757022|0.757022	D|.	0.57257|.	0.979|.	P|.	0.51777|.	0.679|.	T|T	0.40794|0.40794	-0.9544|-0.9544	10|5	0.14252|.	T|.	0.57|.	-11.2681|-11.2681	10.1613|10.1613	0.42853|0.42853	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	732|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	732|25	ENSP00000352536:A732T;ENSP00000264720:A732T|.	ENSP00000264720:A732T|.	A|C	-|-	1|2	0|0	0|0	GTF3C2|GTF3C2	27404901|27404901	27404901|27404901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.393000|4.393000	0.59665|0.59665	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCT|TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2	0	0	0		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				112	108		309	303	1		1	1		0	0	69	0		1	1	0	67	0	113	0	112	309
GTF3C2	2976	broad.mit.edu	37	2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	199					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)				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)					GAGCTCTTCAGCCAGTTCCTG	0.562																																						ENST00000359541.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(595-597)gCt>gTt		general transcription factor IIIC, polypeptide 2, beta 110kDa							40.0	41.0	41.0					2																	27565074		2203	4300	6503	SO:0001583	missense	2976	0	0					g.chr2:27565074G>A	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.596C>T	chr2.hg19:g.27565074G>A	ENSP00000352536:p.Ala199Val	1					AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA	p.A199V			1	2	3	2.183349	Q8WUA4	TF3C2_HUMAN		4	1025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	1	1	hg19	c.596C>T	CCDS1749.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908321	0.92107	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	D;D	0.82984	-1.67;-1.67	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	N	0.24115	0.695	0.51482	D	0.999922	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.994;0.978;0.994	D	0.86109	0.1561	10	0.48119	T	0.1	-11.8481	16.7685	0.85529	0.0:0.0:1.0:0.0	.	199;199;199	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	199	ENSP00000352536:A199V;ENSP00000264720:A199V	ENSP00000264720:A199V	A	-	2	0	0	GTF3C2	27418578	27418578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.583000	0.67484	2.570000	0.86706	0.467000	0.42956	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2	0	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				75	75		179	176	1		1	1		0	0	49	0		1	1	0	48	0	81	0	75	179
SNX17	9784	broad.mit.edu	37	2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_ENST00000542478.1_Missense_Mutation_p.S81N|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	295	FERM-like.|PTB-like F3 module.				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)			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)					GCGGGCAACAGTGAGCTCAGC	0.632																																						ENST00000233575.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(883-885)aGt>aAt		sorting nexin 17							74.0	72.0	73.0					2																	27598482		2203	4300	6503	SO:0001583	missense	9784	0	0					g.chr2:27598482G>A	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.884G>A	chr2.hg19:g.27598482G>A	ENSP00000233575:p.Ser295Asn	1					ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N	p.S295N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	1	2	3	2.183349	Q15036	SNX17_HUMAN		10	1106	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	1	1	hg19	c.884G>A	CCDS1750.1	1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307244	0.23821	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.28069	2.05;1.69;1.63;1.69	5.84	4.91	0.64330	5.84	4.91	0.64330	.	0.077057	0.85682	D	0.000000	T	0.04452	0.0122	N	0.00062	-2.325	0.45390	D	0.998378	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	0.43669	-0.9377	10	0.05436	T	0.98	-6.7693	5.6777	0.17757	0.1522:0.1736:0.6742:0.0	.	270;283;275;295	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	295;81;270;81	ENSP00000233575:S295N;ENSP00000441779:S81N;ENSP00000439208:S270N;ENSP00000442567:S81N	ENSP00000233575:S295N	S	+	2	0	0	SNX17	27451986	27451986	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	0	0	0		19	23	2	1		1	1	123		123	121	1	2.060000	-20.000000	1	0.170000	NM_014748			113	111		583	574	1		1	1		1	0	123	0		1	1	0	209	0	671	0	113	583
PPM1G	5496	broad.mit.edu	37	2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	438					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478																																						ENST00000344034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1312-1314)aTt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							232.0	217.0	222.0					2																	27605361		2203	4300	6503	SO:0001583	missense	5496	0	0					g.chr2:27605361A>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1313T>A	chr2.hg19:g.27605361A>T	ENSP00000342778:p.Ile438Asn	1					ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	p.I438N	NM_177983.2	NP_817092.1	1	2	3	2.183349	O15355	PPM1G_HUMAN		8	1577	-	Acute lymphoblastic leukemia(172;0.155)			Missense_Mutation	SNP	ENST00000344034.4	1	1	hg19	c.1313T>A	CCDS1752.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943702	0.73672	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.19806	2.12;2.12	5.64	5.64	0.86602	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.049370	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93150	3.385	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.67725	0.953;0.876	T	0.68640	-0.5355	10	0.87932	D	0	-6.7713	14.697	0.69129	1.0:0.0:0.0:0.0	.	239;438	Q59GB2;O15355	.;PPM1G_HUMAN	N	438;438;421;239	ENSP00000342778:I438N;ENSP00000264714:I438N	ENSP00000342778:I438N	I	-	2	0	0	PPM1G	27458865	27458865	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.072000	0.93986	2.155000	0.67459	0.533000	0.62120	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	1	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_002707			230	224		621	612	1		1	1		0	0	159	0		1	1	0	95	0	196	0	230	621
NRBP1	29959	broad.mit.edu	37	2	27659651	27659651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498																																						ENST00000233557.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(691-693)aaG>aaA		nuclear receptor binding protein 1							124.0	106.0	112.0					2																	27659651		2203	4300	6503	SO:0001819	synonymous_variant	29959	0	0					g.chr2:27659651G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.693G>A	chr2.hg19:g.27659651G>A		1					NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K	p.K231K			1	2	3	2.183349	Q9UHY1	NRBP_HUMAN		9	1525	+	Acute lymphoblastic leukemia(172;0.155)		B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	1	1	hg19	c.693G>A	CCDS1753.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-5.331955	1	0.170000	NM_013392			82	80		243	234	0		1	1		0	0	78	0		1	1	0	260	0	512	0	82	243
NRBP1	29959	broad.mit.edu	37	2	27664444	27664444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	NRBP1_ENST00000379852.3_Silent_p.I486I|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379863.3_Silent_p.I494I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	486					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572																																						ENST00000233557.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1456-1458)atC>atT		nuclear receptor binding protein 1							143.0	136.0	139.0					2																	27664444		2203	4300	6503	SO:0001819	synonymous_variant	29959	0	0					g.chr2:27664444C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1458C>T	chr2.hg19:g.27664444C>T		1					KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I	p.I486I			1	2	3	2.183349	Q9UHY1	NRBP_HUMAN		18	2290	+	Acute lymphoblastic leukemia(172;0.155)		B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	1	1	hg19	c.1458C>T	CCDS1753.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	0	0	1		2	2	2	0		0	0	156		156	153	1	2.060000	-20.000000	1	0.170000	NM_013392			205	197		639	617	0		1	1		0	0	156	0		1	1	0	253	0	496	0	205	639
IFT172	26160	broad.mit.edu	37	2	27670790	27670790	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493																																						ENST00000260570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.e41-1		intraflagellar transport 172							76.0	75.0	76.0					2																	27670790		2203	4300	6503	SO:0001630	splice_region_variant	26160	0	0					g.chr2:27670790C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4429-1G>T	chr2.hg19:g.27670790C>A		1							NM_015662.1	NP_056477.1	1	2	3	2.183349	Q9UG01	IF172_HUMAN		41	4532	-	Acute lymphoblastic leukemia(172;0.155)		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	1	1	hg19		CCDS1755.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034579	0.75617	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	IFT172	27524294	27524294	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.616000	0.61197	2.524000	0.85096	0.561000	0.74099	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	0	0	1		16	2	2	0		0	1	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_015662	Intron		73	73		251	240	0		1			0	0	70	0		1	0	0	0	0	0	0	73	251
IFT172	26160	broad.mit.edu	37	2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1187					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592																																						ENST00000260570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(3559-3561)gCt>gAt		intraflagellar transport 172							68.0	78.0	75.0					2																	27677000		2203	4297	6500	SO:0001583	missense	26160	0	0					g.chr2:27677000G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3560C>A	chr2.hg19:g.27677000G>T	ENSP00000260570:p.Ala1187Asp	1						p.A1187D	NM_015662.1	NP_056477.1	1	2	3	2.183349	Q9UG01	IF172_HUMAN		33	3663	-	Acute lymphoblastic leukemia(172;0.155)		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	1	1	hg19	c.3560C>A	CCDS1755.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404703|5.404703	0.96051|0.96051	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	T|.	0.55760|.	0.5|.	5.7|5.7	5.7|5.7	0.88788|0.88788	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86564|0.86564	0.5963|0.5963	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89274|0.89274	0.3607|0.3607	10|5	0.87932|.	D|.	0|.	-8.8992|-8.8992	18.3852|18.3852	0.90464|0.90464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187|.	Q9UG01|.	IF172_HUMAN|.	D|R	1187|55	ENSP00000260570:A1187D|.	ENSP00000260570:A1187D|.	A|S	-|-	2|3	0|2	0|2	IFT172|IFT172	27530504|27530504	27530504|27530504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.053000|9.053000	0.93860|0.93860	2.693000|2.693000	0.91896|0.91896	0.462000|0.462000	0.41574|0.41574	GCT|AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1		22	2	2	1		1	1	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_015662			157	155		791	784	1		1	1		1	0	139	0		1	7.687470e-01	0	3	0	13	0	157	791
IFT172	26160	broad.mit.edu	37	2	27680845	27680845	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542																																						ENST00000260570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.e28-2		intraflagellar transport 172							124.0	115.0	118.0					2																	27680845		2203	4300	6503	SO:0001630	splice_region_variant	26160	0	0					g.chr2:27680845T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2976-2A>G	chr2.hg19:g.27680845T>C		1							NM_015662.1	NP_056477.1	1	2	3	2.183349	Q9UG01	IF172_HUMAN		28	3079	-	Acute lymphoblastic leukemia(172;0.155)		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	1	1	hg19		CCDS1755.1	1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701772	0.48307	.	.	ENSG00000138002	ENST00000260570	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	IFT172	27534349	27534349	1.000000	0.71417	0.990000	0.47175	0.378000	0.30076	7.447000	0.80620	2.330000	0.79161	0.533000	0.62120	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_015662	Intron		122	120		346	340	1		1			0	0	79	0		1	0	0	0	0	0	0	122	346
IFT172	26160	broad.mit.edu	37	2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	713					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517																																						ENST00000260570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2137-2139)Ggc>Agc		intraflagellar transport 172							100.0	86.0	90.0					2																	27684682		2203	4300	6503	SO:0001583	missense	26160	0	0					g.chr2:27684682C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2137G>A	chr2.hg19:g.27684682C>T	ENSP00000260570:p.Gly713Ser	1						p.G713S	NM_015662.1	NP_056477.1	1	2	3	2.183349	Q9UG01	IF172_HUMAN		21	2240	-	Acute lymphoblastic leukemia(172;0.155)		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	1	1	hg19	c.2137G>A	CCDS1755.1	1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185459	0.38609	.	.	ENSG00000138002	ENST00000260570	T	0.20738	2.05	5.46	1.68	0.24146	5.46	1.68	0.24146	Tetratricopeptide-like helical (1);	0.542765	0.22378	N	0.060846	T	0.09949	0.0244	N	0.12746	0.255	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.24584	-1.0156	10	0.19147	T	0.46	-3.4826	8.2106	0.31481	0.0:0.6061:0.0:0.3939	.	713	Q9UG01	IF172_HUMAN	S	713	ENSP00000260570:G713S	ENSP00000260570:G713S	G	-	1	0	0	IFT172	27538186	27538186	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.139000	0.31504	0.032000	0.15435	0.591000	0.81541	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.679282	1	0.170000	NM_015662			58	58		193	188	1		1	0		0	0	67	0		1	8.636953e-01	0	1	0	13	0	58	193
GCKR	2646	broad.mit.edu	37	2	27728602	27728602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	256	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.		G -> S (in dbSNP:rs8179212). {ECO:0000269|Ref.3}.		carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542																																						ENST00000264717.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.987365	0.990000	1.000000																										0				29						c.(766-768)ggC>ggT		glucokinase (hexokinase 4) regulator							73.0	69.0	70.0					2																	27728602		2203	4300	6503	SO:0001819	synonymous_variant	2646	0	0					g.chr2:27728602C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.768C>T	chr2.hg19:g.27728602C>T		1					GCKR_ENST00000424318.2_Silent_p.G66G	p.G256G	NM_001486.3	NP_001477.2	1	2	3	2.183349	Q14397	GCKR_HUMAN		10	831	+	Acute lymphoblastic leukemia(172;0.155)		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	1	1	hg19	c.768C>T	CCDS1757.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.318794	1	0.170000	NM_001486			34	34		333	330	0		1	1		0	0	86	0		1	8.438689e-01	0	9	0	26	0	34	333
GCKR	2646	broad.mit.edu	37	2	27729396	27729396	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	306					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532																																						ENST00000264717.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(916-918)acC>acA		glucokinase (hexokinase 4) regulator							100.0	97.0	98.0					2																	27729396		2203	4300	6503	SO:0001819	synonymous_variant	2646	0	0					g.chr2:27729396C>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.918C>A	chr2.hg19:g.27729396C>A		1					GCKR_ENST00000424318.2_Silent_p.T116T	p.T306T	NM_001486.3	NP_001477.2	1	2	3	2.183349	Q14397	GCKR_HUMAN		11	981	+	Acute lymphoblastic leukemia(172;0.155)		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	1	1	hg19	c.918C>A	CCDS1757.1	1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321828	0.05386	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	2.87	0.33458	4.66	2.87	0.33458	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51880	-0.8649	4	.	.	.	-4.4669	8.7283	0.34483	0.0:0.8131:0.0:0.1869	.	.	.	.	H	7	.	.	P	+	2	0	0	GCKR	27582900	27582900	1.000000	0.71417	0.970000	0.41538	0.338000	0.28826	1.012000	0.29924	0.579000	0.29504	-0.251000	0.11542	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	1		2	2	2	0		0	0	52		52	49	1	2.060000	-3.075029	1	0.170000	NM_001486			59	59		280	272	1		1	1		0	0	52	0		1	9.804411e-01	0	3	0	29	0	59	280
GCKR	2646	broad.mit.edu	37	2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	417	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587																																						ENST00000264717.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				29						c.(1249-1251)aCg>aGg		glucokinase (hexokinase 4) regulator							68.0	61.0	63.0					2																	27730853		2203	4300	6503	SO:0001583	missense	2646	0	0					g.chr2:27730853C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1250C>G	chr2.hg19:g.27730853C>G	ENSP00000264717:p.Thr417Arg	1					GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	p.T417R	NM_001486.3	NP_001477.2	1	2	3	2.183349	Q14397	GCKR_HUMAN		15	1313	+	Acute lymphoblastic leukemia(172;0.155)		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	1	1	hg19	c.1250C>G	CCDS1757.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.050|0.050	-1.253246|-1.253246	0.01457|0.01457	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83163	.|-1.69;-1.69	4.22|4.22	-5.34|-5.34	0.02705|0.02705	4.22|4.22	-5.34|-5.34	0.02705|0.02705	.|Sugar isomerase (SIS) (1);	.|1.403430	.|0.04249	.|N	.|0.338374	T|T	0.67477|0.67477	0.2897|0.2897	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15141	.|0.01;0.012;0.01	.|B;B;B	.|0.15870	.|0.006;0.014;0.01	T|T	0.51450|0.51450	-0.8704|-0.8704	5|10	.|0.25106	.|T	.|0.35	0.8822|0.8822	4.6676|4.6676	0.12673|0.12673	0.2519:0.2608:0.0:0.4873|0.2519:0.2608:0.0:0.4873	.|.	.|227;415;417	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	G|R	118|417;227	.|ENSP00000264717:T417R;ENSP00000409109:T227R	.|ENSP00000264717:T417R	R|T	+|+	1|2	2|0	2|0	GCKR|GCKR	27584357|27584357	27584357|27584357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-1.289000|-1.289000	0.02780|0.02780	-1.548000|-1.548000	0.01712|0.01712	-1.648000|-1.648000	0.00760|0.00760	CGG|ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_001486			28	28		164	158	1		1	1		0	0	43	0		1	9.969146e-01	0	4	0	52	0	28	164
C2orf16	84226	broad.mit.edu	37	2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	697						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				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)					GCCTCCTAAAGTTATGGAAAC	0.408																																						ENST00000408964.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				47						c.(2089-2091)Gtt>Att		chromosome 2 open reading frame 16							75.0	71.0	72.0					2																	27801528		1863	4106	5969	SO:0001583	missense	84226	0	0					g.chr2:27801528G>A	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.2089G>A	chr2.hg19:g.27801528G>A	ENSP00000386190:p.Val697Ile	1						p.V697I	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	2140	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	1	1	hg19	c.2089G>A	CCDS42666.1	1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145322	0.06627	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	4.27	1.33	0.21861	4.27	1.33	0.21861	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.23419	0.046	T	0.46624	-0.9178	9	0.19590	T	0.45	.	2.6937	0.05128	0.1072:0.1794:0.5284:0.185	.	697	Q68DN1	CB016_HUMAN	I	697	ENSP00000386190:V697I	ENSP00000386190:V697I	V	+	1	0	0	C2orf16	27655032	27655032	0.556000	0.26538	0.135000	0.22099	0.102000	0.19082	0.941000	0.29005	0.277000	0.22141	-0.264000	0.10439	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_032266			70	67		475	467	1		1	1		0	0	87	0		1	2.790647e-01	0	4	0	4	0	70	475
C2orf16	84226	broad.mit.edu	37	2	27801881	27801881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	ENST00000408964.2	+	1	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	814						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				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)					CATGTCCTGAGATTCTAGGAG	0.398																																						ENST00000408964.2	0.620000	0.340000	5.500000e-01	4.000000e-01	0.470000	0.481576	0.470000	0.480000																										0				47						c.(2440-2442)gaG>gaT		chromosome 2 open reading frame 16							186.0	182.0	183.0					2																	27801881		1866	4098	5964	SO:0001583	missense	84226	0	0					g.chr2:27801881G>T	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.2442G>T	chr2.hg19:g.27801881G>T	ENSP00000386190:p.Glu814Asp	1					AC074091.1_ENST00000408604.1_RNA	p.E814D	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	2493	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	1	1	hg19	c.2442G>T	CCDS42666.1	0	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538403	0.45176	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	5.14	2.19	0.27852	5.14	2.19	0.27852	.	.	.	.	.	T	0.16769	0.0403	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.10132	-1.0643	9	0.87932	D	0	.	5.7705	0.18251	0.1875:0.1622:0.6503:0.0	.	814	Q68DN1	CB016_HUMAN	D	814	ENSP00000386190:E814D	ENSP00000386190:E814D	E	+	3	2	2	C2orf16	27655385	27655385	0.137000	0.22531	0.546000	0.28166	0.510000	0.34073	0.660000	0.25009	0.685000	0.31468	0.313000	0.20887	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	0	0	1		2	2	2	0		0	0	208		208	208	1	2.060000	-4.106525	1	0.170000	NM_032266			43	43		1118	1098	0		1	0		0	0	208	0		1	1.462623e-03	0	0	0	2	0	43	1118
C2orf16	84226	broad.mit.edu	37	2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1154						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				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)					CACCTTGTACGCACTCCTGAA	0.468																																						ENST00000408964.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(3460-3462)cGc>cAc		chromosome 2 open reading frame 16							94.0	95.0	95.0					2																	27802900		2006	4187	6193	SO:0001583	missense	84226	2	120978	36				g.chr2:27802900G>A	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.3461G>A	chr2.hg19:g.27802900G>A	ENSP00000386190:p.Arg1154His	1					ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	p.R1154H	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	3512	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	1	1	hg19	c.3461G>A	CCDS42666.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395537	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	5.19	3.37	0.38596	5.19	3.37	0.38596	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.22779	N	0.998746	P	0.38110	0.618	B	0.27380	0.079	T	0.40646	-0.9552	9	0.54805	T	0.06	.	6.8869	0.24208	0.2046:0.0:0.7954:0.0	.	1154	Q68DN1	CB016_HUMAN	H	1154	ENSP00000386190:R1154H	ENSP00000386190:R1154H	R	+	2	0	0	C2orf16	27656404	27656404	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	1.947000	0.40293	1.177000	0.42855	0.467000	0.42956	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1		2	2	2	0		0	0	112		112	109	1	2.060000	-20.000000	1	0.170000	NM_032266			190	188		471	463	1		1	1		0	0	112	0		1	6.435725e-01	0	3	0	4	0	190	471
C2orf16	84226	broad.mit.edu	37	2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A	rs201320413		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1237						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				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)					CGAGGACAACGCAGCAGGCCT	0.478																																						ENST00000408964.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(3709-3711)cGc>cAc		chromosome 2 open reading frame 16		G	HIS/ARG	4,3766		0,4,1881	116.0	115.0	115.0		3710	-2.0	0.0	2		115	0,8242		0,0,4121	yes	missense	C2orf16	NM_032266.3	29	0,4,6002	AA,AG,GG		0.0,0.1061,0.0333	benign	1237/1985	27803149	4,12008	1885	4121	6006	SO:0001583	missense	84226	18	120836	46				g.chr2:27803149G>A	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.3710G>A	chr2.hg19:g.27803149G>A	ENSP00000386190:p.Arg1237His	1					ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	p.R1237H	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	3761	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	1	1	hg19	c.3710G>A	CCDS42666.1	1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159046	0.01686	0.001061	0.0	ENSG00000221843	ENST00000408964	T	0.05786	3.39	5.05	-1.97	0.07503	5.05	-1.97	0.07503	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.15499	T	0.54	.	6.9067	0.24313	0.2042:0.2035:0.5923:0.0	.	1237	Q68DN1	CB016_HUMAN	H	1237	ENSP00000386190:R1237H	ENSP00000386190:R1237H	R	+	2	0	0	C2orf16	27656653	27656653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.725000	0.04942	-0.296000	0.08947	0.467000	0.42956	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1		2	2	2	0		0	0	160		160	158	1	2.060000	-4.693741	1	0.170000	NM_032266			137	135		651	639	1		1	0		0	0	160	0		1	1.430348e-01	0	0	0	4	0	137	651
C2orf16	84226	broad.mit.edu	37	2	27803687	27803687	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1416						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				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)					ACAAGCTAACGCCAGCAGGCT	0.463																																						ENST00000408964.2	1.000000	0.780000	1	8.900000e-01	0.990000	0.964176	0.990000	1.000000																										0				47						c.(4246-4248)acG>acA		chromosome 2 open reading frame 16							85.0	88.0	87.0					2																	27803687		2023	4178	6201	SO:0001819	synonymous_variant	84226	2	120950	33				g.chr2:27803687G>A	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.4248G>A	chr2.hg19:g.27803687G>A		1					ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	p.T1416T	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	4299	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	1	1	hg19	c.4248G>A	CCDS42666.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-12.880700	1	0.170000	NM_032266			50	49		568	563	0		1	0		0	0	127	0		1	6.887954e-03	0	1	0	1	0	50	568
C2orf16	84226	broad.mit.edu	37	2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	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)				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)					AGAAGCCATCGCAGTCCCTCA	0.572																																						ENST00000408964.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(4963-4965)cGc>cAc		chromosome 2 open reading frame 16																																				SO:0001583	missense	84226	16	120822	45				g.chr2:27804403G>A	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.4964G>A	chr2.hg19:g.27804403G>A	ENSP00000386190:p.Arg1655His	1					ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	p.R1655H	NM_032266.3	NP_115642.3	1	2	3	2.183349	Q68DN1	CB016_HUMAN		1	5015	+	Acute lymphoblastic leukemia(172;0.155)		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	1	1	hg19	c.4964G>A	CCDS42666.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823735	0.32237	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.39	-4.4	0.03600	3.39	-4.4	0.03600	.	.	.	.	.	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41360	-0.9513	9	0.48119	T	0.1	.	1.1788	0.01841	0.3834:0.2679:0.2131:0.1356	.	1655	Q68DN1	CB016_HUMAN	H	1655	ENSP00000386190:R1655H	ENSP00000386190:R1655H	R	+	2	0	0	C2orf16	27657907	27657907	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.704000	0.00822	-1.327000	0.02264	-0.657000	0.03884	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1		2	2	2	0		0	0	319		319	386	1	2.060000	-12.940710	1	0.170000	NM_032266			391	349		1064	1384	1		1	0		0	0	319	0		1	5.095110e-01	0	1	0	5	0	391	1064
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000610189.1	+	7	480	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000264718.3_Missense_Mutation_p.S172L	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448																																						ENST00000610189.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(472-474)tCg>tTg		GPN-loop GTPase 1							233.0	209.0	217.0					2																	27858050		2203	4300	6503	SO:0001583	missense	11321	0	0					g.chr2:27858050C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.473C>T	chr2.hg19:g.27858050C>T	ENSP00000476446:p.Ser158Leu	1					GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Missense_Mutation_p.S172L	p.S158L	NM_007266.3	NP_009197.2	1	2	3	2.183349				7	480	+				Missense_Mutation	SNP	ENST00000610189.1	1	1	hg19	c.473C>T		1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173807	0.78452	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.96	5.96	0.96718	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.46885	1.475	0.58432	D	0.999999	B;P;B;P	0.48503	0.163;0.911;0.386;0.64	B;P;B;B	0.47206	0.046;0.541;0.108;0.265	T	0.00271	-1.1859	9	.	.	.	-16.5273	17.1122	0.86679	0.0:1.0:0.0:0.0	.	158;172;63;146	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	L	79;63;63;79;146;172	ENSP00000424678:S79L;ENSP00000427269:S63L;ENSP00000412170:S63L;ENSP00000398115:S79L;ENSP00000384255:S146L;ENSP00000264718:S172L	.	S	+	2	0	0	GPN1	27711554	27711554	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	7.061000	0.76699	2.820000	0.97059	0.655000	0.94253	TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_007266			87	83		448	429	1		1	1		0	0	90	0		1	1	0	55	0	185	0	87	448
SLC4A1AP	22950	broad.mit.edu	37	2	27886811	27886811	+	Silent	SNP	C	C	A	rs139689483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	64						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592																																						ENST00000326019.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(190-192)acC>acA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							90.0	85.0	87.0					2																	27886811		2203	4300	6503	SO:0001819	synonymous_variant	22950	0	0					g.chr2:27886811C>A		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.192C>A	chr2.hg19:g.27886811C>A		1					SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000464789.2_5'Flank	p.T64T	NM_018158.2	NP_060628.2	1	2	3	2.183349	Q9BWU0	NADAP_HUMAN		1	474	+	Acute lymphoblastic leukemia(172;0.155)		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	1	1	hg19	c.192C>A	CCDS33166.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-2.841708	1	0.170000	NM_018158			100	100		593	581	1		1	1		0	0	115	0		1	9.999996e-01	0	33	0	89	0	100	593
RBKS	64080	broad.mit.edu	37	2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	238					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498																																						ENST00000302188.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(712-714)gCt>gTt		ribokinase							117.0	110.0	112.0					2																	28050516		2203	4300	6503	SO:0001583	missense	64080	0	0					g.chr2:28050516G>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.713C>T	chr2.hg19:g.28050516G>A	ENSP00000306817:p.Ala238Val	1					RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	p.A238V	NM_022128.1	NP_071411.1	1	2	3	2.183349	Q9H477	RBSK_HUMAN		7	1465	-	Acute lymphoblastic leukemia(172;0.155)		A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	1	1	hg19	c.713C>T	CCDS1762.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669094	0.47677	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.77750	-1.12;-1.12	5.73	4.84	0.62591	5.73	4.84	0.62591	Carbohydrate/purine kinase (1);	0.385463	0.32015	N	0.006714	T	0.77961	0.4209	M	0.74647	2.275	0.36951	D	0.892843	P;P	0.50272	0.873;0.933	B;B	0.43754	0.189;0.43	T	0.82997	-0.0179	10	0.54805	T	0.06	-4.4051	11.6494	0.51279	0.0:0.1345:0.7256:0.1399	.	238;238	B4DV96;Q9H477	.;RBSK_HUMAN	V	238	ENSP00000306817:A238V;ENSP00000413232:A238V	ENSP00000306817:A238V	A	-	2	0	0	RBKS	27904020	27904020	0.952000	0.32445	0.115000	0.21578	0.683000	0.39861	3.493000	0.53266	1.392000	0.46585	0.491000	0.48974	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-6.342826	1	0.170000	NM_022128			110	108		310	304	1		1	1		0	0	88	0		1	1	0	38	0	42	0	110	310
RBKS	64080	broad.mit.edu	37	2	28081321	28081321	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.418																																						ENST00000302188.3	1.000000	0.550000	1	6.900000e-01	0.850000	0.846693	0.850000	1.000000																										0				7						c.(205-207)acG>acA		ribokinase							106.0	96.0	100.0					2																	28081321		2203	4300	6503	SO:0001819	synonymous_variant	64080	0	0					g.chr2:28081321C>T	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.207G>A	chr2.hg19:g.28081321C>T		1					RBKS_ENST00000444339.2_Silent_p.T69T	p.T69T	NM_022128.1	NP_071411.1	1	2	3	2.183349	Q9H477	RBSK_HUMAN		2	959	-	Acute lymphoblastic leukemia(172;0.155)		A9UK04|B4DV96	Silent	SNP	ENST00000302188.3	1	1	hg19	c.207G>A	CCDS1762.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-6.808113	1	0.170000	NM_022128			22	21		309	299	1		1	1		0	0	56	0		9.999984e-01	9.602971e-01	0	15	0	62	0	22	309
FOSL2	2355	broad.mit.edu	37	2	28634796	28634796	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28634796G>T	ENST00000264716.4	+	4	1325		c.e4-1		FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000379619.1_Missense_Mutation_p.Q146H	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2						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)			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)					TTCCGTGGCAGGAGACAGAGG	0.542																																						ENST00000264716.4	0.550000	0.140000	4.300000e-01	2.100000e-01	0.310000	0.327955	0.310000	0.300000																										0				14						c.e4-1		FOS-like antigen 2							38.0	43.0	42.0					2																	28634796		2203	4300	6503	SO:0001630	splice_region_variant	2355	0	0					g.chr2:28634796G>T		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.463-1G>T	chr2.hg19:g.28634796G>T		1					FOSL2_ENST00000379619.1_Missense_Mutation_p.Q146H|FOSL2_ENST00000545753.1_Splice_Site		NM_005253.3	NP_005244.1	1	2	3	2.183349	P15408	FOSL2_HUMAN		4	1325	+	Acute lymphoblastic leukemia(172;0.155)		B2RD58|B3KP27|B4DYV4|Q6FG46	Splice_Site	SNP	ENST00000264716.4	0	1	hg19		CCDS1766.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789324|3.789324	0.70337|0.70337	.|.	.|.	ENSG00000075426|ENSG00000075426	ENST00000264716;ENST00000436647;ENST00000545753|ENST00000379619	.|T	.|0.76709	.|-1.04	5.08|5.08	5.08|5.08	0.68730|0.68730	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86698	.|0.5995	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86468	.|0.1783	.|6	.|0.49607	.|T	.|0.09	.|.	19.3591|19.3591	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|146	.|ENSP00000368939:Q146H	.|ENSP00000368939:Q146H	.|Q	+|+	.|3	.|2	.|2	FOSL2|FOSL2	28488300|28488300	28488300|28488300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	9.649000|9.649000	0.98487|0.98487	2.746000|2.746000	0.94184|0.94184	0.650000|0.650000	0.86243|0.86243	.|CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	0	0	1		2	2	2	0		0	0	65		65	62	1	2.060000	-3.683400	1	0.170000	NM_005253	Intron		8	8		337	328	0		1	1		0	0	65	0		9.883877e-01	9.811343e-02	0	14	0	6	0	8	337
FOSL2	2355	broad.mit.edu	37	2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000264716.4	+	4	1529	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	222					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)			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)					TAGTGGTGAAACAGGAGCCCC	0.672																																						ENST00000264716.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(664-666)aaA>aaT		FOS-like antigen 2							33.0	37.0	36.0					2																	28635000		2203	4296	6499	SO:0001583	missense	2355	0	0					g.chr2:28635000A>T		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.666A>T	chr2.hg19:g.28635000A>T	ENSP00000264716:p.Lys222Asn	1					FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N|FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N	p.K222N	NM_005253.3	NP_005244.1	1	2	3	2.183349	P15408	FOSL2_HUMAN		4	1529	+	Acute lymphoblastic leukemia(172;0.155)		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	1	1	hg19	c.666A>T	CCDS1766.1	1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577826	0.45902	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.81499	-1.5;-0.4;-1.36;-1.39	5.05	-5.02	0.02982	5.05	-5.02	0.02982	.	0.900315	0.08935	U	0.872467	T	0.78304	0.4262	M	0.66378	2.025	0.58432	D	0.999998	B	0.24043	0.096	B	0.18263	0.021	T	0.59440	-0.7454	10	0.66056	D	0.02	-18.8801	17.6979	0.88286	0.1005:0.0:0.8995:0.0	.	222	P15408	FOSL2_HUMAN	N	214;222;183;183	ENSP00000368939:K214N;ENSP00000264716:K222N;ENSP00000396497:K183N;ENSP00000439303:K183N	ENSP00000264716:K222N	K	+	3	2	2	FOSL2	28488504	28488504	0.203000	0.23435	0.741000	0.31004	0.960000	0.62799	-0.018000	0.12568	-1.543000	0.01723	-0.411000	0.06167	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_005253			78	77		418	408	1		1	1		0	0	78	0		1	1	0	46	0	134	0	78	418
PLB1	151056	broad.mit.edu	37	2	28748771	28748771	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28748771G>A	ENST00000327757.5	+	6	328		c.e6-1		PLB1_ENST00000422425.2_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTACCTGCAGGACTGAAAGG	0.532																																						ENST00000327757.5	0.730000	0.170000	5.700000e-01	2.700000e-01	0.400000	0.426608	0.400000	0.390000																										0				69						c.e6-1		phospholipase B1							121.0	101.0	108.0					2																	28748771		2203	4300	6503	SO:0001630	splice_region_variant	151056	0	0					g.chr2:28748771G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.285-1G>A	chr2.hg19:g.28748771G>A		1					PLB1_ENST00000422425.2_Splice_Site		NM_153021.4	NP_694566.4	1	2	3	2.183349	Q6P1J6	PLB1_HUMAN		6	328	+	Acute lymphoblastic leukemia(172;0.155)		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	0	1	hg19		CCDS33168.1	0	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812568	0.50527	.	.	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425;ENST00000404858	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3317	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PLB1	28602275	28602275	1.000000	0.71417	0.907000	0.35723	0.068000	0.16541	4.141000	0.58038	2.779000	0.95612	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2	0	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.450173	1	0.170000		Intron		7	7		227	225	0		1			0	0	41	0		9.804737e-01	0	0	0	0	0	0	7	227
PPP1CB	5500	broad.mit.edu	37	2	29004680	29004680	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318																																						ENST00000395366.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(490-492)gtG>gtT		protein phosphatase 1, catalytic subunit, beta isozyme							104.0	104.0	104.0					2																	29004680		2203	4300	6503	SO:0001819	synonymous_variant	5500	0	0					g.chr2:29004680G>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.492G>T	chr2.hg19:g.29004680G>T		1					PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	p.V164V	NM_002709.2	NP_002700.1	1	2	3	2.183349	P62140	PP1B_HUMAN		4	764	+	Acute lymphoblastic leukemia(172;0.155)		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Silent	SNP	ENST00000395366.2	1	1	hg19	c.492G>T	CCDS33169.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.914194	1	0.170000				80	79		336	327	1		1	1		0	0	56	0		1	1	0	159	0	613	0	80	336
TRMT61B	55006	broad.mit.edu	37	2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T	rs200742289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	201					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468																																						ENST00000306108.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(601-603)Ctg>Atg		tRNA methyltransferase 61 homolog B (S. cerevisiae)							124.0	132.0	130.0					2																	29092543		2203	4300	6503	SO:0001583	missense	55006	50	121412	52				g.chr2:29092543G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.601C>A	chr2.hg19:g.29092543G>T	ENSP00000302801:p.Leu201Met	1						p.L201M	NM_017910.3	NP_060380.3	1	2	3	2.183349	Q9BVS5	TR61B_HUMAN		1	624	-			Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	1	1	hg19	c.601C>A	CCDS1768.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277361	0.59758	.	.	ENSG00000171103	ENST00000306108	T	0.27402	1.67	5.5	2.6	0.31112	5.5	2.6	0.31112	.	0.482216	0.18300	N	0.145454	T	0.44008	0.1273	L	0.54323	1.7	0.09310	N	1	P;D	0.65815	0.809;0.995	P;D	0.64595	0.66;0.927	T	0.11012	-1.0605	10	0.54805	T	0.06	1.1401	8.9325	0.35680	0.1226:0.128:0.7494:0.0	.	201;201	F8WDR2;Q9BVS5	.;TR61B_HUMAN	M	201	ENSP00000302801:L201M	ENSP00000302801:L201M	L	-	1	2	2	TRMT61B	28946047	28946047	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	0.067000	0.14510	1.259000	0.44117	0.561000	0.74099	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-6.564617	1	0.170000	NM_017910			133	131		747	740	1		1	1		0	0	140	0		1	9.998035e-01	0	17	0	53	0	133	747
TRMT61B	55006	broad.mit.edu	37	2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	160					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498																																						ENST00000306108.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(478-480)gaG>gaT		tRNA methyltransferase 61 homolog B (S. cerevisiae)		C	ASP/GLU	0,4406		0,0,2203	44.0	48.0	47.0		480	4.3	0.1	2	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRMT61B	NM_017910.3	45	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging	160/478	29092664	2,13004	2203	4300	6503	SO:0001583	missense	55006	5	121412	37				g.chr2:29092664C>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.480G>T	chr2.hg19:g.29092664C>A	ENSP00000302801:p.Glu160Asp	1						p.E160D	NM_017910.3	NP_060380.3	1	2	3	2.183349	Q9BVS5	TR61B_HUMAN		1	503	-			Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	1	1	hg19	c.480G>T	CCDS1768.1	1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230419	0.58777	0.0	2.33E-4	ENSG00000171103	ENST00000306108	T	0.22134	1.97	5.24	4.35	0.52113	5.24	4.35	0.52113	.	0.318671	0.27764	N	0.017947	T	0.16811	0.0404	N	0.10707	0.03	0.35303	D	0.783195	B;P	0.48589	0.002;0.912	B;P	0.49708	0.008;0.62	T	0.21109	-1.0255	10	0.37606	T	0.19	.	14.0724	0.64868	0.0:0.9259:0.0:0.0741	.	160;160	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	160	ENSP00000302801:E160D	ENSP00000302801:E160D	E	-	3	2	2	TRMT61B	28946168	28946168	0.335000	0.24748	0.063000	0.19743	0.290000	0.27261	1.435000	0.34969	2.459000	0.83118	0.462000	0.41574	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_017910			53	53		246	244	1		1	1		0	0	63	0		1	9.999823e-01	0	19	0	59	0	53	246
TRMT61B	55006	broad.mit.edu	37	2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	35					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622																																						ENST00000306108.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(103-105)gCt>gAt		tRNA methyltransferase 61 homolog B (S. cerevisiae)							51.0	54.0	53.0					2																	29093040		2203	4300	6503	SO:0001583	missense	55006	0	0					g.chr2:29093040G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.104C>A	chr2.hg19:g.29093040G>T	ENSP00000302801:p.Ala35Asp	1						p.A35D	NM_017910.3	NP_060380.3	1	2	3	2.183349	Q9BVS5	TR61B_HUMAN		1	127	-			Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	1	1	hg19	c.104C>A	CCDS1768.1	1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433373	0.62844	.	.	ENSG00000171103	ENST00000306108	T	0.55234	0.53	5.44	1.62	0.23740	5.44	1.62	0.23740	.	0.418594	0.21374	N	0.075591	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.933	P;P	0.53649	0.731;0.542	T	0.34153	-0.9840	10	0.72032	D	0.01	-5.5275	5.127	0.14890	0.2511:0.1498:0.599:0.0	.	35;35	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	35	ENSP00000302801:A35D	ENSP00000302801:A35D	A	-	2	0	0	TRMT61B	28946544	28946544	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	1.109000	0.31135	0.090000	0.17273	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	NM_017910			66	66		183	177	1		1	1		0	0	33	0		1	9.998818e-01	0	14	0	27	0	66	183
WDR43	23160	broad.mit.edu	37	2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	188						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378																																						ENST00000407426.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(562-564)cGa>cAa		WD repeat domain 43							118.0	112.0	114.0					2																	29135533		1849	4096	5945	SO:0001583	missense	23160	0	0					g.chr2:29135533G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.563G>A	chr2.hg19:g.29135533G>A	ENSP00000384302:p.Arg188Gln	1					SNORD92_ENST00000585078.1_RNA	p.R188Q	NM_015131.1	NP_055946.1	1	2	3	2.183349	Q15061	WDR43_HUMAN		4	619	+	Acute lymphoblastic leukemia(172;0.155)		Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	1	1	hg19	c.563G>A	CCDS46251.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784285	0.90282	.	.	ENSG00000163811	ENST00000407426;ENST00000440983;ENST00000296126	T;T;T	0.70869	-0.01;-0.01;-0.52	5.81	5.81	0.92471	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.256459	0.37348	N	0.002124	T	0.72914	0.3520	L	0.43923	1.385	0.43559	D	0.995872	D	0.60160	0.987	P	0.49597	0.616	T	0.71784	-0.4488	10	0.41790	T	0.15	-7.3855	20.0896	0.97814	0.0:0.0:1.0:0.0	.	188	Q15061	WDR43_HUMAN	Q	188;99;7	ENSP00000384302:R188Q;ENSP00000415355:R99Q;ENSP00000296126:R7Q	ENSP00000296126:R7Q	R	+	2	0	0	WDR43	28989037	28989037	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.796000	0.69080	2.741000	0.93983	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-5.571499	1	0.170000	XM_087089			93	91		264	260	1		1	1		0	0	76	0		1	1	0	48	0	106	0	93	264
WDR43	23160	broad.mit.edu	37	2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353																																						ENST00000407426.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T502M(1)	breast(1)	20						c.(1375-1377)aCg>aTg		WD repeat domain 43							111.0	109.0	110.0					2																	29152515		1834	4096	5930	SO:0001583	missense	23160	2	120796	34				g.chr2:29152515C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1376C>T	chr2.hg19:g.29152515C>T	ENSP00000384302:p.Thr459Met	1					SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA	p.T459M	NM_015131.1	NP_055946.1	1	2	3	2.183349	Q15061	WDR43_HUMAN		11	1432	+	Acute lymphoblastic leukemia(172;0.155)		Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	1	1	hg19	c.1376C>T	CCDS46251.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525409	0.44969	.	.	ENSG00000163811	ENST00000407426	T	0.75704	-0.96	5.81	4.94	0.65067	5.81	4.94	0.65067	.	0.146333	0.64402	N	0.000009	T	0.67353	0.2884	M	0.65975	2.015	0.50467	D	0.999879	P	0.37525	0.598	B	0.21917	0.037	T	0.71076	-0.4697	10	0.66056	D	0.02	-8.4749	12.1851	0.54234	0.0:0.8621:0.0:0.1378	.	459	Q15061	WDR43_HUMAN	M	459	ENSP00000384302:T459M	ENSP00000384302:T459M	T	+	2	0	0	WDR43	29006019	29006019	0.992000	0.36948	0.890000	0.34922	0.890000	0.51754	3.080000	0.50112	1.459000	0.47892	0.655000	0.94253	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	XM_087089			55	55		141	138	1		1	1		0	0	33	0		1	1	0	111	0	140	0	55	141
FAM179A	165186	broad.mit.edu	37	2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768										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						GAGCAGCTACGGGAGCTGACA	0.662																																						ENST00000379558.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				26						c.(2302-2304)cGg>cAg		family with sequence similarity 179, member A							17.0	16.0	16.0					2																	29258407		2197	4294	6491	SO:0001583	missense	165186	0	0					g.chr2:29258407G>A	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.2303G>A	chr2.hg19:g.29258407G>A	ENSP00000368876:p.Arg768Gln	1					FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q|FAM179A_ENST00000465300.1_3'UTR	p.R768Q	NM_199280.2	NP_954974.2	1	2	3	2.183349	Q6ZUX3	F179A_HUMAN		17	2654	+			Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	0	1	hg19	c.2303G>A	CCDS1769.2	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138539	0.56936	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13901	2.55;2.55	4.74	3.63	0.41609	4.74	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.23210	0.0561	L	0.60455	1.87	0.29437	N	0.859426	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.59115	0.69;0.75;0.852	T	0.02805	-1.1108	10	0.45353	T	0.12	.	6.4891	0.22105	0.2624:0.0:0.7376:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	Q	768;713	ENSP00000368876:R768Q;ENSP00000384699:R713Q	ENSP00000368876:R768Q	R	+	2	0	0	FAM179A	29111911	29111911	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.093000	0.50217	2.196000	0.70406	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-20.000000	1	0.170000	NM_199280			13	12		35	35	1		1	1		0	0	9	0		9.997453e-01	7.912533e-01	0	5	0	5	0	13	35
FAM179A	165186	broad.mit.edu	37	2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A	rs535137926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831										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						GGAGTCCTTCGCCAAGATGAT	0.498													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000379558.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2491-2493)Gcc>Acc		family with sequence similarity 179, member A							125.0	105.0	111.0					2																	29259479		2203	4300	6503	SO:0001583	missense	165186	11	121408	41				g.chr2:29259479G>A	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.2491G>A	chr2.hg19:g.29259479G>A	ENSP00000368876:p.Ala831Thr	1					FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	p.A831T	NM_199280.2	NP_954974.2	1	2	3	2.183349	Q6ZUX3	F179A_HUMAN		18	2842	+			Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	1	1	hg19	c.2491G>A	CCDS1769.2	1	.	.	.	.	.	.	.	.	.	.	g	6.373	0.436969	0.12104	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.53;2.53	6.04	1.22	0.21188	6.04	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.08044	0.0201	L	0.50333	1.59	0.09310	N	1	B;B;P	0.36249	0.179;0.034;0.545	B;B;B	0.22386	0.024;0.003;0.039	T	0.34403	-0.9830	10	0.13853	T	0.58	.	6.7617	0.23544	0.1701:0.0:0.6081:0.2218	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	T	831;776	ENSP00000368876:A831T;ENSP00000384699:A776T	ENSP00000368876:A831T	A	+	1	0	0	FAM179A	29112983	29112983	0.000000	0.05858	0.439000	0.26833	0.203000	0.24098	0.488000	0.22371	0.461000	0.27071	-0.217000	0.12591	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	1	0	1		15	2	2	1		1	1	74		74	74	1	2.060000	-6.766390	1	0.170000	NM_199280			90	89		231	227	1		1	1		1	0	74	0		1	9.482496e-01	0	3	0	12	0	90	231
C2orf71	388939	broad.mit.edu	37	2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1188					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				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						CTGAGGAAAGGCAGAGGGTTG	0.632																																						ENST00000331664.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3562-3564)Cct>Act		chromosome 2 open reading frame 71							44.0	50.0	48.0					2																	29293566		2109	4217	6326	SO:0001583	missense	388939	0	0					g.chr2:29293566G>T		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.3562C>A	chr2.hg19:g.29293566G>T	ENSP00000332809:p.Pro1188Thr	1						p.P1188T	NM_001029883.2	NP_001025054.1	1	2	3	2.183349	A6NGG8	CB071_HUMAN		1	3561	-				Missense_Mutation	SNP	ENST00000331664.5	1	1	hg19	c.3562C>A	CCDS42669.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631712	0.87660	.	.	ENSG00000179270	ENST00000331664	T	0.36340	1.26	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.071002	0.56097	D	0.000028	T	0.61502	0.2352	M	0.65498	2.005	0.46609	D	0.999124	D	0.89917	1.0	D	0.91635	0.999	T	0.63598	-0.6601	10	0.87932	D	0	-12.6592	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1188	A6NGG8	CB071_HUMAN	T	1188	ENSP00000332809:P1188T	ENSP00000332809:P1188T	P	-	1	0	0	C2orf71	29147070	29147070	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.587000	0.82613	2.595000	0.87683	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_001029883			58	56		308	300	1		1			0	0	60	0		1	0	0	0	0	0	0	58	308
CLIP4	79745	broad.mit.edu	37	2	29356571	29356571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29356571G>A	ENST00000320081.5	+	5	673	c.418G>A	c.(418-420)Gca>Aca	p.A140T	CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	140										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACCTGGGAGCAGACATTAG	0.358																																						ENST00000320081.5	0.730000	0.210000	5.800000e-01	3.000000e-01	0.430000	0.450498	0.430000	0.420000																										0				26						c.(418-420)Gca>Aca		CAP-GLY domain containing linker protein family, member 4							111.0	105.0	107.0					2																	29356571		2203	4300	6503	SO:0001583	missense	79745	0	0					g.chr2:29356571G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.418G>A	chr2.hg19:g.29356571G>A	ENSP00000327009:p.Ala140Thr	1					CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T	p.A140T	NM_024692.4	NP_078968.3	1	2	3	2.183349	Q8N3C7	CLIP4_HUMAN		5	673	+	Acute lymphoblastic leukemia(172;0.155)		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	1	1	hg19	c.418G>A	CCDS1770.1	0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454407	0.84209	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.70869	0.07;-0.52;0.07;0.07;0.07;0.07	5.55	5.55	0.83447	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.051964	0.85682	D	0.000000	T	0.80549	0.4644	M	0.76328	2.33	0.80722	D	1	P;P	0.50528	0.936;0.84	P;P	0.51945	0.685;0.596	T	0.82924	-0.0216	10	0.87932	D	0	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	140;140	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	T	140;33;140;140;140;141;140;33;122	ENSP00000384242:A140T;ENSP00000385148:A33T;ENSP00000385594:A140T;ENSP00000327009:A140T;ENSP00000393354:A140T;ENSP00000392296:A33T	ENSP00000327009:A140T	A	+	1	0	0	CLIP4	29210075	29210075	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.799000	0.99117	2.604000	0.88044	0.650000	0.86243	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-10.051150	1	0.170000	NM_024692			9	9		269	264	0		1	1		0	0	31	0		9.939450e-01	8.240813e-01	0	5	0	93	0	9	269
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348																																						ENST00000320081.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999670	0.990000	1.000000																										0				26						c.(1780-1782)aGa>aTa		CAP-GLY domain containing linker protein family, member 4							80.0	82.0	81.0					2																	29397296		2203	4300	6503	SO:0001583	missense	79745	0	0					g.chr2:29397296G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1781G>T	chr2.hg19:g.29397296G>T	ENSP00000327009:p.Arg594Ile	1					CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I	p.R594I	NM_024692.4	NP_078968.3	1	2	3	2.183349	Q8N3C7	CLIP4_HUMAN		15	2036	+	Acute lymphoblastic leukemia(172;0.155)		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	1	1	hg19	c.1781G>T	CCDS1770.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524429	0.85600	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.095372	0.64402	D	0.000001	T	0.46698	0.1406	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.36335	-0.9752	10	0.38643	T	0.18	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	594	Q8N3C7	CLIP4_HUMAN	I	594;487;594;596;594;612;554	ENSP00000384242:R594I;ENSP00000385148:R487I;ENSP00000385594:R594I;ENSP00000327009:R594I	ENSP00000327009:R594I	R	+	2	0	0	CLIP4	29250800	29250800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.806000	0.55583	2.885000	0.99019	0.655000	0.94253	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-15.219440	1	0.170000	NM_024692			35	34		256	251	0		1	1		0	0	57	0		1	9.998832e-01	0	7	0	96	0	35	256
ALK	238	broad.mit.edu	37	2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	200					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)		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)	CCTTCCCTCTCTGCCCACTTC	0.622			"""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																													ENST00000389048.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Dom	yes	Familial neuroblastoma	yes	Dom	yes	Familial neuroblastoma	2	2p23	2p23	238	T, Mis, A	anaplastic lymphoma kinase (Ki-1)				"""L, E, M"""	L, E, M	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	neuroblastoma	ALCL, NSCLC, Neuroblastoma	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)	0				340						c.(598-600)aGa>aAa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Crizotinib(DB08865)						39.0	47.0	44.0					2																	30142927		2203	4298	6501	SO:0001583	missense	238	0	0		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	g.chr2:30142927C>T	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.599G>A	chr2.hg19:g.30142927C>T	ENSP00000373700:p.Arg200Lys	1					ALK_ENST00000431873.1_Missense_Mutation_p.R200K	p.R200K	NM_004304.4	NP_004295.2	1	2	3	2.183349	Q9UM73	ALK_HUMAN		1	1505	-	Acute lymphoblastic leukemia(172;0.155)		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	1	1	hg19	c.599G>A	CCDS33172.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805230	0.70682	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79454	-1.27;2.77	5.33	5.33	0.75918	5.33	5.33	0.75918	.	.	.	.	.	T	0.67571	0.2907	N	0.24115	0.695	0.28441	N	0.916784	B	0.19583	0.037	B	0.14023	0.01	T	0.53865	-0.8378	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	200	Q9UM73	ALK_HUMAN	K	200	ENSP00000373700:R200K;ENSP00000414027:R200K	.	R	-	2	0	0	ALK	29996431	29996431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.041000	0.49807	2.652000	0.90054	0.655000	0.94253	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_004304			90	89		221	216	1		1	0		0	0	49	0		1	0	0	0	0	1	0	90	221
LBH	81606	broad.mit.edu	37	2	30480460	30480460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	ENST00000395323.3	+	3	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D	LBH_ENST00000406087.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.E80D	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	97					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ACTGCGAAGAGACAGCGAAAG	0.547																																						ENST00000395323.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				5						c.(289-291)gaG>gaT		limb bud and heart development							47.0	49.0	48.0					2																	30480460		2203	4300	6503	SO:0001583	missense	81606	0	0					g.chr2:30480460G>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.291G>T	chr2.hg19:g.30480460G>T	ENSP00000378733:p.Glu97Asp	1					LBH_ENST00000404397.1_Intron|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000406087.1_3'UTR	p.E97D	NM_030915.3	NP_112177.2	1	2	3	2.183349	Q53QV2	LBH_HUMAN		3	499	+	Acute lymphoblastic leukemia(172;0.155)		B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	1	1	hg19	c.291G>T	CCDS33173.1	1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233031	0.39498	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	-1.56	0.08532	4.78	-1.56	0.08532	.	0.611981	0.18007	N	0.154682	T	0.20740	0.0499	N	0.19112	0.55	0.28153	N	0.929308	B	0.02656	0.0	B	0.04013	0.001	T	0.06935	-1.0799	9	0.42905	T	0.14	-9.1529	3.5822	0.07958	0.2088:0.4269:0.2568:0.1075	.	97	Q53QV2	LBH_HUMAN	D	97;103;80	.	ENSP00000378733:E97D	E	+	3	2	2	LBH	30333964	30333964	0.726000	0.28059	0.909000	0.35828	0.947000	0.59692	-0.144000	0.10280	-0.194000	0.10399	0.549000	0.68633	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_030915			36	36		219	213	0		1	1		0	0	46	0		1	1	0	27	0	647	0	36	219
LCLAT1	253558	broad.mit.edu	37	2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A	rs559540287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	124					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413																																						ENST00000309052.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(370-372)cGg>cAg		lysocardiolipin acyltransferase 1							210.0	200.0	203.0					2																	30756073		2203	4300	6503	SO:0001583	missense	253558	2	121412	39				g.chr2:30756073G>A	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.371G>A	chr2.hg19:g.30756073G>A	ENSP00000310551:p.Arg124Gln	1					LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	p.R124Q	NM_182551.3	NP_872357.2	1	2	3	2.183349	Q6UWP7	LCLT1_HUMAN		4	580	+			A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	1	1	hg19	c.371G>A	CCDS1772.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938400	0.73557	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.41	3.61	0.41365	5.41	3.61	0.41365	Phospholipid/glycerol acyltransferase (2);	0.101779	0.64402	D	0.000001	D	0.92397	0.7587	L	0.38649	1.16	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.91635	0.965;0.999	D	0.88787	0.3275	10	0.19590	T	0.45	-12.3911	11.7451	0.51815	0.1428:0.0:0.8572:0.0	.	124;124	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	Q	86;86;86;86;124;86;86;124;124;86;86;124;86	ENSP00000419966:R86Q;ENSP00000420481:R86Q;ENSP00000368823:R86Q;ENSP00000368826:R124Q;ENSP00000417951:R86Q;ENSP00000417565:R86Q;ENSP00000310551:R124Q;ENSP00000352406:R124Q;ENSP00000442857:R86Q;ENSP00000419646:R86Q;ENSP00000417875:R124Q;ENSP00000419444:R86Q	ENSP00000310551:R124Q	R	+	2	0	0	LCLAT1	30609577	30609577	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	9.554000	0.98121	0.771000	0.33359	0.650000	0.86243	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	1	0	1		2	2	2	0		0	0	182		182	182	1	2.060000	-2.515512	1	0.170000	NM_182551			192	188		844	827	1		1	1		0	0	182	0		1	9.792491e-01	0	12	0	17	0	192	844
CAPN13	92291	broad.mit.edu	37	2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	39	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			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)					GCAGGGAATGTCTCATCCTTA	0.542																																						ENST00000295055.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				30						c.(115-117)Aca>Cca		calpain 13							47.0	49.0	48.0					2																	31010077		1982	4163	6145	SO:0001583	missense	92291	0	0					g.chr2:31010077T>G		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.115A>C	chr2.hg19:g.31010077T>G	ENSP00000295055:p.Thr39Pro	1					CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P|CAPN13_ENST00000465960.2_5'UTR	p.T39P	NM_144575.2	NP_653176.2	1	2	3	2.183349	Q6MZZ7	CAN13_HUMAN		2	291	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	1	1	hg19	c.115A>C	CCDS46252.1	1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203808	0.38905	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87650	-2.28;-2.28	5.91	3.46	0.39613	5.91	3.46	0.39613	Peptidase C2, calpain, catalytic domain (3);	0.296884	0.36815	N	0.002391	D	0.90549	0.7038	M	0.81239	2.535	0.33205	D	0.552634	D	0.69078	0.997	D	0.67548	0.952	D	0.89689	0.3896	10	0.33940	T	0.23	.	4.8091	0.13335	0.1652:0.0869:0.0:0.7479	.	39	Q6MZZ7	CAN13_HUMAN	P	39	ENSP00000295055:T39P;ENSP00000431298:T39P	ENSP00000295055:T39P	T	-	1	0	0	CAPN13	30863581	30863581	0.609000	0.26975	0.990000	0.47175	0.135000	0.20990	1.198000	0.32223	2.266000	0.75297	0.533000	0.62120	ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-13.457370	1	0.170000	NM_144575			16	16		58	56	1		1	0		0	0	13	0		9.999588e-01	5.228982e-02	0	0	0	2	0	16	58
EHD3	30845	broad.mit.edu	37	2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	41					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.R41L(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)					GAGCATTACCGCTTCCACGAG	0.597																																						ENST00000322054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R41L(1)	large_intestine(1)	33						c.(121-123)cGc>cAc		EH-domain containing 3							108.0	102.0	104.0					2																	31457609		2203	4300	6503	SO:0001583	missense	30845	1	121412	32				g.chr2:31457609G>A	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.122G>A	chr2.hg19:g.31457609G>A	ENSP00000327116:p.Arg41His	1					EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	p.R41H	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		1	407	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.122G>A	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563703	0.65651	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.32753	1.44;2.18	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.047335	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71036	2.16	0.42300	D	0.992178	B;B	0.11235	0.004;0.002	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.66056	D	0.02	-24.0634	5.9496	0.19237	0.2233:0.0:0.7767:0.0	.	41;41	B4DFR5;Q9NZN3	.;EHD3_HUMAN	H	41	ENSP00000440685:R41H;ENSP00000327116:R41H	ENSP00000327116:R41H	R	+	2	0	0	EHD3	31311113	31311113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.609000	0.67661	2.600000	0.87896	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_014600			149	149		426	422	1		1	1		0	0	105	0		1	9.997169e-01	0	2	0	35	0	149	426
EHD3	30845	broad.mit.edu	37	2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	131	Dynamin-type G.				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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537																																						ENST00000322054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(391-393)Gcc>Acc		EH-domain containing 3							115.0	91.0	99.0					2																	31467303		2203	4300	6503	SO:0001583	missense	30845	2	121412	33				g.chr2:31467303G>A	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.391G>A	chr2.hg19:g.31467303G>A	ENSP00000327116:p.Ala131Thr	1					EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	p.A131T	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		2	676	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.391G>A	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989006	0.74589	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.95588	-3.75;-3.75	5.7	5.7	0.88788	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	L	0.44542	1.39	0.80722	D	1	B;B	0.29835	0.207;0.258	B;B	0.32393	0.074;0.145	D	0.91218	0.5004	10	0.38643	T	0.18	-18.8688	19.8471	0.96713	0.0:0.0:1.0:0.0	.	131;131	B4DFR5;Q9NZN3	.;EHD3_HUMAN	T	131	ENSP00000440685:A131T;ENSP00000327116:A131T	ENSP00000327116:A131T	A	+	1	0	0	EHD3	31320807	31320807	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_014600			72	69		187	184	1		1	1		0	0	47	0		1	9.999833e-01	0	4	0	42	0	72	187
EHD3	30845	broad.mit.edu	37	2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	208	Dynamin-type G.				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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552																																						ENST00000322054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(622-624)Aag>Cag		EH-domain containing 3							85.0	78.0	80.0					2																	31483495		2203	4300	6503	SO:0001583	missense	30845	0	0					g.chr2:31483495A>C	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.622A>C	chr2.hg19:g.31483495A>C	ENSP00000327116:p.Lys208Gln	1					EHD3_ENST00000541626.1_Intron	p.K208Q	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		4	907	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.622A>C	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988500	0.74589	.	.	ENSG00000013016	ENST00000322054	D	0.97016	-4.21	5.15	3.98	0.46160	5.15	3.98	0.46160	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.62209	1.925	0.80722	D	1	P	0.48764	0.915	P	0.55161	0.77	D	0.95728	0.8772	10	0.59425	D	0.04	-38.4058	11.4487	0.50138	0.865:0.0:0.0:0.135	.	208	Q9NZN3	EHD3_HUMAN	Q	208	ENSP00000327116:K208Q	ENSP00000327116:K208Q	K	+	1	0	0	EHD3	31336999	31336999	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.179000	0.77665	0.957000	0.37930	0.459000	0.35465	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_014600			74	74		202	199	1		1	0		0	0	43	0		1	9.999418e-01	0	0	0	43	0	74	202
EHD3	30845	broad.mit.edu	37	2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	272	Dynamin-type G.				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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587																																						ENST00000322054.5	1.000000	0.670000	1	7.900000e-01	0.910000	0.902867	0.910000	1.000000																										0				33						c.(814-816)gAg>gCg		EH-domain containing 3							81.0	84.0	83.0					2																	31483688		2203	4300	6503	SO:0001583	missense	30845	0	0					g.chr2:31483688A>C	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.815A>C	chr2.hg19:g.31483688A>C	ENSP00000327116:p.Glu272Ala	1					EHD3_ENST00000541626.1_Intron	p.E272A	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		4	1100	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.815A>C	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728124	0.69074	.	.	ENSG00000013016	ENST00000322054	D	0.95885	-3.84	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.094049	0.64402	D	0.000001	D	0.97145	0.9067	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	D	0.97595	1.0119	10	0.62326	D	0.03	-46.8045	14.8417	0.70230	1.0:0.0:0.0:0.0	.	272	Q9NZN3	EHD3_HUMAN	A	272	ENSP00000327116:E272A	ENSP00000327116:E272A	E	+	2	0	0	EHD3	31337192	31337192	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.090000	0.63153	0.459000	0.35465	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_014600			44	43		569	567	0		1	0		0	0	121	0		1	9.037284e-01	0	1	0	53	0	44	569
EHD3	30845	broad.mit.edu	37	2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	336					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562																																						ENST00000322054.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1006-1008)Gcc>Acc		EH-domain containing 3							140.0	131.0	134.0					2																	31484505		2203	4300	6503	SO:0001583	missense	30845	0	0					g.chr2:31484505G>A	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.1006G>A	chr2.hg19:g.31484505G>A	ENSP00000327116:p.Ala336Thr	1					EHD3_ENST00000541626.1_Intron	p.A336T	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		5	1291	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.1006G>A	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784436	0.31593	.	.	ENSG00000013016	ENST00000322054	T	0.17213	2.29	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.090843	0.85682	D	0.000000	T	0.09423	0.0232	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.22109	T	0.4	-6.2235	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	336	Q9NZN3	EHD3_HUMAN	T	336	ENSP00000327116:A336T	ENSP00000327116:A336T	A	+	1	0	0	EHD3	31338009	31338009	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	6.685000	0.74543	2.873000	0.98535	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	148		148	146	1	2.060000	-20.000000	1	0.170000	NM_014600			149	149		482	472	1		1	1		0	0	148	0		1	9.822670e-01	0	3	0	20	0	149	482
EHD3	30845	broad.mit.edu	37	2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	430					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGAGGGGGCTGGAGAAGGT	0.622																																						ENST00000322054.5	1.000000	0.740000	1	9.300000e-01	0.990000	0.972127	0.990000	1.000000																										0				33						c.(1288-1290)gCt>gTt		EH-domain containing 3							75.0	68.0	71.0					2																	31489251		2203	4300	6503	SO:0001583	missense	30845	0	0					g.chr2:31489251C>T	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.1289C>T	chr2.hg19:g.31489251C>T	ENSP00000327116:p.Ala430Val	1					EHD3_ENST00000541626.1_3'UTR	p.A430V	NM_014600.2	NP_055415.1	1	2	3	2.183349	Q9NZN3	EHD3_HUMAN		6	1574	+	Acute lymphoblastic leukemia(172;0.155)		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	1	1	hg19	c.1289C>T	CCDS1774.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140960	0.56936	.	.	ENSG00000013016	ENST00000322054	T	0.17691	2.26	5.84	5.84	0.93424	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.15952	T	0.53	-19.4475	20.1432	0.98067	0.0:1.0:0.0:0.0	.	430	Q9NZN3	EHD3_HUMAN	V	430	ENSP00000327116:A430V	ENSP00000327116:A430V	A	+	2	0	0	EHD3	31342755	31342755	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	5.940000	0.70187	2.769000	0.95229	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_014600			19	18		189	183	0		1	0		0	0	30	0		9.999901e-01	7.415646e-01	0	0	0	28	0	19	189
XDH	7498	broad.mit.edu	37	2	31560588	31560588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1290					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTTCCTTCACGTTATTACCTG	0.562																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3868-3870)aaC>aaT		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						110.0	96.0	101.0					2																	31560588		2203	4300	6503	SO:0001819	synonymous_variant	7498	1	121412	39				g.chr2:31560588G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3870C>T	chr2.hg19:g.31560588G>A		1						p.N1290N	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		35	3918	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	1	1	hg19	c.3870C>T	CCDS1775.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_000379			110	106		351	349	0		1	1		0	0	83	0		1	6.036258e-01	0	3	0	5	0	110	351
XDH	7498	broad.mit.edu	37	2	31570487	31570487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1059					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAATCTTAGAGGTGGGGATTT	0.542																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3175-3177)acC>acT		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						107.0	110.0	109.0					2																	31570487		2203	4300	6503	SO:0001819	synonymous_variant	7498	0	0					g.chr2:31570487G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3177C>T	chr2.hg19:g.31570487G>A		1						p.T1059T	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		29	3225	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	1	1	hg19	c.3177C>T	CCDS1775.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_000379			124	124		379	372	1		1	1		0	0	94	0		1	3.609578e-01	0	3	0	2	0	124	379
XDH	7498	broad.mit.edu	37	2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1012					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGAAAAGGAACTGTAAAGCTT	0.388																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3034-3036)Gtt>Att		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						102.0	102.0	102.0					2																	31571782		2203	4300	6503	SO:0001583	missense	7498	0	0					g.chr2:31571782C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3034G>A	chr2.hg19:g.31571782C>T	ENSP00000368727:p.Val1012Ile	1						p.V1012I	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		27	3082	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	1	1	hg19	c.3034G>A	CCDS1775.1	1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845221	0.16963	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	-11.0	0.00169	5.85	-11.0	0.00169	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.594745	0.19170	N	0.120946	T	0.25865	0.0630	L	0.47016	1.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11494	-1.0585	10	0.16896	T	0.51	.	14.4795	0.67570	0.0:0.2955:0.5407:0.1638	.	1012	P47989	XDH_HUMAN	I	1012	ENSP00000368727:V1012I	ENSP00000368727:V1012I	V	-	1	0	0	XDH	31425286	31425286	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-4.438000	0.00234	-2.268000	0.00685	-3.099000	0.00064	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_000379			53	53		161	158	1		1	1		0	0	42	0		1	6.286770e-01	0	4	0	4	0	53	161
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAATAAAGCTCGTTCCATAAT	0.498																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R881Q(1)	large_intestine(1)	74						c.(2641-2643)cGa>cAa		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						68.0	73.0	71.0					2																	31573079		2203	4300	6503	SO:0001583	missense	7498	4	121412	35				g.chr2:31573079C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2642G>A	chr2.hg19:g.31573079C>T	ENSP00000368727:p.Arg881Gln	1						p.R881Q	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		25	2690	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	1	1	hg19	c.2642G>A	CCDS1775.1	1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	0	XDH	31426583	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.897201	1	0.170000	NM_000379			97	94		444	434	1		1	1		0	0	64	0		1	4.373433e-01	0	4	0	4	0	97	444
XDH	7498	broad.mit.edu	37	2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	822					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCGCACAGGGCGGCCGGTCCT	0.557																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(2464-2466)cGc>cAc		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						104.0	93.0	96.0					2																	31588402		2203	4300	6503	SO:0001583	missense	7498	2	121412	33				g.chr2:31588402C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2465G>A	chr2.hg19:g.31588402C>T	ENSP00000368727:p.Arg822His	1						p.R822H	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		23	2513	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	1	1	hg19	c.2465G>A	CCDS1775.1	1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910494	0.33721	.	.	ENSG00000158125	ENST00000379416	T	0.57436	0.4	6.17	5.25	0.73442	6.17	5.25	0.73442	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.206565	0.50627	N	0.000113	T	0.60143	0.2246	M	0.86343	2.81	0.58432	D	0.999997	B	0.22800	0.075	B	0.23852	0.049	T	0.60193	-0.7311	10	0.39692	T	0.17	.	14.7869	0.69810	0.0:0.9275:0.0:0.0725	.	822	P47989	XDH_HUMAN	H	822	ENSP00000368727:R822H	ENSP00000368727:R822H	R	-	2	0	0	XDH	31441906	31441906	0.103000	0.21917	0.817000	0.32601	0.180000	0.23129	1.648000	0.37271	1.515000	0.48885	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	105		105	101	1	2.060000	-20.000000	1	0.170000	NM_000379			106	103		483	474	1		1	1		0	0	105	0		1	1.529791e-01	0	2	0	2	0	106	483
XDH	7498	broad.mit.edu	37	2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	625					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTTCTTAGCTTCTGATGTAT	0.478																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(1873-1875)gaA>gaC		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						93.0	80.0	84.0					2																	31593326		2203	4300	6503	SO:0001583	missense	7498	0	0					g.chr2:31593326T>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1875A>C	chr2.hg19:g.31593326T>G	ENSP00000368727:p.Glu625Asp	1						p.E625D	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		18	1923	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	1	1	hg19	c.1875A>C	CCDS1775.1	1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102553	0.37145	.	.	ENSG00000158125	ENST00000379416	T	0.13089	2.62	6.17	2.51	0.30379	6.17	2.51	0.30379	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.430804	0.29253	N	0.012683	T	0.21022	0.0506	M	0.66939	2.045	0.44985	D	0.998004	B	0.24317	0.101	B	0.39152	0.292	T	0.02877	-1.1099	10	0.54805	T	0.06	.	9.2083	0.37302	0.0:0.2166:0.0:0.7834	.	625	P47989	XDH_HUMAN	D	625	ENSP00000368727:E625D	ENSP00000368727:E625D	E	-	3	2	2	XDH	31446830	31446830	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	0.639000	0.24690	0.197000	0.20387	0.533000	0.62120	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.999930	1	0.170000	NM_000379			37	37		143	141	1		1	1		0	0	22	0		1	8.414246e-01	0	7	0	8	0	37	143
XDH	7498	broad.mit.edu	37	2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	83	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGTCACTGCAACATGGTGCAA	0.507																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3	1.000000	0.440000	9.300000e-01	5.700000e-01	0.740000	0.750422	0.740000	1.000000																										0				74						c.(247-249)gTt>gCt		xanthine dehydrogenase	Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)						109.0	81.0	90.0					2																	31624144		2203	4300	6503	SO:0001583	missense	7498	0	0					g.chr2:31624144A>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.248T>C	chr2.hg19:g.31624144A>G	ENSP00000368727:p.Val83Ala	1						p.V83A	NM_000379.3	NP_000370.2	1	2	3	2.183349	P47989	XDH_HUMAN		4	296	-	Acute lymphoblastic leukemia(172;0.155)		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	1	1	hg19	c.248T>C	CCDS1775.1	0	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.256555	0.00265	.	.	ENSG00000158125	ENST00000379416	T	0.21031	2.03	6.07	2.41	0.29592	6.07	2.41	0.29592	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.716909	0.14120	N	0.340128	T	0.03263	0.0095	N	0.00094	-2.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40459	-0.9562	10	0.02654	T	1	.	8.6268	0.33895	0.7144:0.0:0.2856:0.0	.	83	P47989	XDH_HUMAN	A	83	ENSP00000368727:V83A	ENSP00000368727:V83A	V	-	2	0	0	XDH	31477648	31477648	0.096000	0.21769	0.003000	0.11579	0.002000	0.02628	2.968000	0.49224	0.179000	0.19938	-0.256000	0.11100	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-18.729740	1	0.170000	NM_000379			16	16		264	257	0		1	0		0	0	50	0		9.999266e-01	2.100763e-02	0	0	0	4	0	16	264
SRD5A2	6716	broad.mit.edu	37	2	31805971	31805971	+	RNA	SNP	G	G	A	rs61748132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31805971G>A	ENST00000405650.1	-	0	165							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCTGCATCGCGCCGTGTTC	0.701																																						ENST00000405650.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0												steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)						17.0	20.0	19.0					2																	31805971		1998	4145	6143			6716	0	0					g.chr2:31805971G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		chr2.hg19:g.31805971G>A		1									1	2	3	2.183349	P31213	S5A2_HUMAN		0	165	-	Acute lymphoblastic leukemia(172;0.155)		B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	0	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	0	0	0		2	2	2	0		0	0	34		34	31	1	2.060000	-20.000000	1	0.170000	NM_000348			52	51		150	148	0		1			0	0	34	0		1	0	0	0	0	0	0	52	150
SRD5A2	6716	broad.mit.edu	37	2	31806019	31806019	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31806019G>A	ENST00000405650.1	-	0	117							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AGAGAGCGCGGCCCCCGCAAC	0.716																																						ENST00000405650.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0												steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)						3.0	6.0	5.0					2																	31806019		931	1942	2873			6716	0	0					g.chr2:31806019G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		chr2.hg19:g.31806019G>A		1									1	2	3	2.183349	P31213	S5A2_HUMAN		0	117	-	Acute lymphoblastic leukemia(172;0.155)		B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	0	1	hg19			1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	0	0	0		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_000348			28	26		95	94	0		1			0	0	13	0		1	0	0	0	0	0	0	28	95
NLRC4	58484	broad.mit.edu	37	2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	574					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)			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)					GCTTCAAATTCTTGGCTCAGG	0.378																																						ENST00000404025.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1720-1722)Gaa>Taa		NLR family, CARD domain containing 4							101.0	98.0	99.0					2																	32475213		2203	4300	6503	SO:0001587	stop_gained	58484	0	0					g.chr2:32475213C>A	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.1720G>T	chr2.hg19:g.32475213C>A	ENSP00000385090:p.Glu574*	1					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*	p.E574*			1	2	3	2.183349	Q9NPP4	NLRC4_HUMAN		5	2208	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	0	1	hg19	c.1720G>T	CCDS33174.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081780	0.76528	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.0	2.11	0.27256	3.0	2.11	0.27256	.	0.396359	0.19831	N	0.105084	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6055	0.39630	0.0:0.8875:0.0:0.1125	.	.	.	.	X	574	.	ENSP00000354159:E574X	E	-	1	0	0	NLRC4	32328717	32328717	1.000000	0.71417	0.575000	0.28536	0.001000	0.01503	4.069000	0.57541	0.853000	0.35312	-0.300000	0.09419	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_021209			69	67		418	414	1		1	0		0	0	96	0		1	5.270375e-01	0	0	0	12	0	69	418
NLRC4	58484	broad.mit.edu	37	2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A	rs557723374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	260	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			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)					GCTTCGATTTCTGGGCAGTTC	0.507																																						ENST00000404025.2	1.000000	0.720000	1	8.300000e-01	0.950000	0.929914	0.950000	1.000000																										0				16						c.(778-780)Gaa>Taa		NLR family, CARD domain containing 4							113.0	105.0	108.0					2																	32476155		2203	4300	6503	SO:0001587	stop_gained	58484	0	0					g.chr2:32476155C>A	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.778G>T	chr2.hg19:g.32476155C>A	ENSP00000385090:p.Glu260*	1					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*	p.E260*			1	2	3	2.183349	Q9NPP4	NLRC4_HUMAN		5	1266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	0	1	hg19	c.778G>T	CCDS33174.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.210687	0.97380	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	3.27	0.37495	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4282	13.7957	0.63168	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000354159:E260X	E	-	1	0	0	NLRC4	32329659	32329659	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	2.663000	0.46774	1.836000	0.53414	0.543000	0.68304	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-11.585270	1	0.170000	NM_021209			51	51		630	618	0		1	0		0	0	122	0		1	3.173351e-01	0	0	0	15	0	51	630
NLRC4	58484	broad.mit.edu	37	2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			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)					AAGTCTCCTTCTGATGTCTGA	0.408																																						ENST00000404025.2	0.740000	0.310000	6.300000e-01	4.000000e-01	0.500000	0.522235	0.500000	0.510000																										0				16						c.(283-285)Gaa>Aaa		NLR family, CARD domain containing 4							53.0	56.0	55.0					2																	32476650		2195	4296	6491	SO:0001583	missense	58484	0	0					g.chr2:32476650C>T	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.283G>A	chr2.hg19:g.32476650C>T	ENSP00000385090:p.Glu95Lys	1					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K	p.E95K			1	2	3	2.183349	Q9NPP4	NLRC4_HUMAN		5	771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	1	1	hg19	c.283G>A	CCDS33174.1	0	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564640	0.45694	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	3.46	2.56	0.30785	3.46	2.56	0.30785	.	0.119241	0.33572	N	0.004778	T	0.35624	0.0938	L	0.29908	0.895	0.32029	N	0.599757	P	0.40000	0.698	B	0.32724	0.151	T	0.53337	-0.8453	9	0.66056	D	0.02	-5.2439	11.191	0.48685	0.1858:0.8142:0.0:0.0	.	95	Q9NPP4	NLRC4_HUMAN	K	95	ENSP00000354159:E95K;ENSP00000385428:E95K;ENSP00000385090:E95K	ENSP00000354159:E95K	E	-	1	0	0	NLRC4	32330154	32330154	0.070000	0.21116	0.080000	0.20451	0.123000	0.20343	0.143000	0.16115	0.772000	0.33382	0.543000	0.68304	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	0	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-4.260508	1	0.170000	NM_021209			20	20		488	482	0		1	0		0	0	100	0		9.999949e-01	6.283554e-02	0	0	0	10	0	20	488
BIRC6	57448	broad.mit.edu	37	2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1514					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)			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)					GAGATGAGTGGCTCTTCTTGT	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2	0.980000	0.400000	8.200000e-01	5.200000e-01	0.660000	0.676795	0.660000	1.000000																										0				172						c.(4540-4542)gGc>gTc		baculoviral IAP repeat containing 6							128.0	130.0	129.0					2																	32673919		2203	4300	6503	SO:0001583	missense	57448	0	0					g.chr2:32673919G>T	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.4541G>T	chr2.hg19:g.32673919G>T	ENSP00000393596:p.Gly1514Val	1						p.G1514V	NM_016252.3	NP_057336	1	2	3	2.183349	Q9NR09	BIRC6_HUMAN		22	4675	+	Acute lymphoblastic leukemia(172;0.155)		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	1	1	hg19	c.4541G>T	CCDS33175.2	0	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359955	0.61403	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.132026	0.50627	D	0.000106	T	0.78181	0.4243	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70510	-0.4852	10	0.02654	T	1	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1514	Q9NR09	BIRC6_HUMAN	V	1514	ENSP00000393596:G1514V	ENSP00000393596:G1514V	G	+	2	0	0	BIRC6	32527423	32527423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-5.091001	1	0.170000	NM_016252			18	18		334	328	0		1	1		0	0	62	0		9.999808e-01	4.418230e-01	0	2	0	26	0	18	334
BIRC6	57448	broad.mit.edu	37	2	32673997	32673997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)			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)					GTCCTTTCAGGTAGTGATTTC	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.e22+1		baculoviral IAP repeat containing 6							95.0	99.0	98.0					2																	32673997		2203	4300	6503	SO:0001630	splice_region_variant	57448	0	0					g.chr2:32673997G>A	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.4618+1G>A	chr2.hg19:g.32673997G>A		1							NM_016252.3	NP_057336	1	2	3	2.183349	Q9NR09	BIRC6_HUMAN		22	4752	+	Acute lymphoblastic leukemia(172;0.155)		Q9ULD1	Splice_Site	SNP	ENST00000421745.2	1	1	hg19		CCDS33175.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145565	0.77888	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	BIRC6	32527501	32527501	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.754000	0.98908	2.574000	0.86865	0.585000	0.79938	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_016252	Intron		67	67		189	186	1		1			0	0	47	0		1	0	0	0	0	0	0	67	189
BIRC6	57448	broad.mit.edu	37	2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A	rs551174027	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2291					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)			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)					GATTTAATTCGTTTACGTCGG	0.328													G|||	2	0.000399361	0.0	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.002				Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(6871-6873)cGt>cAt		baculoviral IAP repeat containing 6							120.0	117.0	118.0					2																	32702455		2203	4300	6503	SO:0001583	missense	57448	5	121412	39				g.chr2:32702455G>A	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.6872G>A	chr2.hg19:g.32702455G>A	ENSP00000393596:p.Arg2291His	1						p.R2291H	NM_016252.3	NP_057336	1	2	3	2.183349	Q9NR09	BIRC6_HUMAN		35	7006	+	Acute lymphoblastic leukemia(172;0.155)		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	1	1	hg19	c.6872G>A	CCDS33175.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.261329	0.95368	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.139716	0.48767	D	0.000174	D	0.83533	0.5275	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.83807	0.0239	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	2291	Q9NR09	BIRC6_HUMAN	H	2291	ENSP00000393596:R2291H	ENSP00000393596:R2291H	R	+	2	0	0	BIRC6	32555959	32555959	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.727000	0.98787	2.694000	0.91930	0.585000	0.79938	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_016252			116	115		346	338	1		1	1		0	0	71	0		1	9.999535e-01	0	6	0	40	0	116	346
BIRC6	57448	broad.mit.edu	37	2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3738					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)			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)					ACAGACCAGTGCAAGATCAGC	0.448																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				172						c.(11212-11214)Gca>Aca		baculoviral IAP repeat containing 6							101.0	94.0	96.0					2																	32740700		2203	4300	6503	SO:0001583	missense	57448	0	0					g.chr2:32740700G>A	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.11212G>A	chr2.hg19:g.32740700G>A	ENSP00000393596:p.Ala3738Thr	1						p.A3738T	NM_016252.3	NP_057336	1	2	3	2.183349	Q9NR09	BIRC6_HUMAN		55	11346	+	Acute lymphoblastic leukemia(172;0.155)		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	1	1	hg19	c.11212G>A	CCDS33175.2	1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777582	0.00640	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.5	-1.67	0.08238	5.5	-1.67	0.08238	.	0.665993	0.14546	N	0.312976	T	0.58708	0.2141	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.24483	T	0.36	.	6.0668	0.19868	0.4489:0.0:0.4343:0.1168	.	3738	Q9NR09	BIRC6_HUMAN	T	3738	ENSP00000393596:A3738T	ENSP00000393596:A3738T	A	+	1	0	0	BIRC6	32594204	32594204	0.999000	0.42202	0.016000	0.15963	0.164000	0.22412	0.596000	0.24044	-0.365000	0.08076	-0.224000	0.12420	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-19.999830	1	0.170000	NM_016252			55	54		351	345	1		1	1		0	0	96	0		1	9.997138e-01	0	31	0	48	0	55	351
TTC27	55622	broad.mit.edu	37	2	33036232	33036232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714										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						AATCTGGAGGCTGTATGCCCA	0.453																																						ENST00000317907.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2140-2142)Ctg>Ttg		tetratricopeptide repeat domain 27							113.0	112.0	113.0					2																	33036232		2203	4300	6503	SO:0001819	synonymous_variant	55622	0	0					g.chr2:33036232C>T	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.2140C>T	chr2.hg19:g.33036232C>T		1						p.L714L	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	1	2	3	2.183349	Q6P3X3	TTC27_HUMAN		17	2371	+			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	1	1	hg19	c.2140C>T	CCDS33176.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_017735			50	50		231	227	1		1	1		0	0	46	0		1	9.999425e-01	0	24	0	46	0	50	231
RASGRP3	25780	broad.mit.edu	37	2	33783327	33783327	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.A543A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	543					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)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542																																						ENST00000403687.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(1627-1629)gcC>gcA		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							60.0	62.0	61.0					2																	33783327		1907	4118	6025	SO:0001819	synonymous_variant	25780	0	0					g.chr2:33783327C>A	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.1629C>A	chr2.hg19:g.33783327C>A		1					RASGRP3_ENST00000402538.3_Silent_p.A543A|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Silent_p.A542A	p.A543A	NM_001139488.1	NP_001132960.1	1	2	3	2.183349	Q8IV61	GRP3_HUMAN		16	2369	+	all_hematologic(175;0.115)		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	1	1	hg19	c.1629C>A	CCDS46256.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_015376			23	23		89	85	1		1	1		0	0	23	0		9.999996e-01	9.900125e-01	0	2	0	30	0	23	89
RASGRP3	25780	broad.mit.edu	37	2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	599					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)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGCTCTTCTCGCAAGATCTCT	0.592																																						ENST00000403687.3	0.880000	0.330000	7.300000e-01	4.400000e-01	0.570000	0.591005	0.570000	0.570000																										0				11						c.(1795-1797)cGc>cAc		RAS guanyl releasing protein 3 (calcium and DAG-regulated)																																				SO:0001583	missense	25780	1	120900	33				g.chr2:33783829G>A	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.1796G>A	chr2.hg19:g.33783829G>A	ENSP00000384192:p.Arg599His	1					RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H	p.R599H	NM_001139488.1	NP_001132960.1	1	2	3	2.183349	Q8IV61	GRP3_HUMAN		17	2536	+	all_hematologic(175;0.115)		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	1	1	hg19	c.1796G>A	CCDS46256.1	0	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922374	0.52653	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.45	4.57	0.56435	5.45	4.57	0.56435	.	0.268189	0.36703	N	0.002459	T	0.60547	0.2277	L	0.27053	0.805	0.32515	N	0.537021	P;P	0.43633	0.813;0.813	B;B	0.32864	0.154;0.154	T	0.69003	-0.5260	10	0.39692	T	0.17	-5.3184	10.9647	0.47406	0.1982:0.0:0.8018:0.0	.	598;599	D6W583;Q8IV61	.;GRP3_HUMAN	H	599;599;598	ENSP00000385886:R599H;ENSP00000384192:R599H;ENSP00000383917:R598H	ENSP00000385886:R599H	R	+	2	0	0	RASGRP3	33637333	33637333	0.988000	0.35896	0.998000	0.56505	0.997000	0.91878	3.486000	0.53215	1.278000	0.44430	0.650000	0.86243	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-4.583258	1	0.170000	NM_015376			15	15		325	321	0		1	0		0	0	66	0		9.998689e-01	5.997884e-01	0	0	0	44	0	15	325
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T	rs372559618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					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.G315G(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)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307.0	280.0	289.0		945	3.6	1.0	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232	2	121412	37				g.chr2:36691752C>T	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.945C>T	chr2.hg19:g.36691752C>T		1						p.G315G	NM_016441.2	NP_057525.1	1	2	3	2.183349	Q9NZV1	CRIM1_HUMAN		5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	1	1	hg19	c.945C>T	CCDS1783.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-20.000000	1	0.170000	NM_016441			153	149		821	798	1		1	1		0	0	152	0		1	1	0	44	0	232	0	153	821
CRIM1	51232	broad.mit.edu	37	2	36704168	36704168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	376	VWFC 1. {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)			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)				AGATAAACTGCGAGAGGTACT	0.488																																						ENST00000280527.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1126-1128)tgC>tgT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							112.0	98.0	103.0					2																	36704168		2203	4300	6503	SO:0001819	synonymous_variant	51232	2	121412	36				g.chr2:36704168C>T	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.1128C>T	chr2.hg19:g.36704168C>T		1						p.C376C	NM_016441.2	NP_057525.1	1	2	3	2.183349	Q9NZV1	CRIM1_HUMAN		6	1495	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	1	1	hg19	c.1128C>T	CCDS1783.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-7.354223	1	0.170000	NM_016441			129	127		348	347	0		1	1		0	0	70	0		1	1	0	52	0	166	0	129	348
VIT	5212	broad.mit.edu	37	2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000389975.3	+	5	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000379242.3_Missense_Mutation_p.F133C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	133	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)			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)				AGAGAATCCTTTATCGTCTTA	0.443																																						ENST00000389975.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(397-399)tTt>tGt		vitrin							129.0	110.0	116.0					2																	36982186		2203	4300	6503	SO:0001583	missense	5212	0	0					g.chr2:36982186T>G	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.398T>G	chr2.hg19:g.36982186T>G	ENSP00000374625:p.Phe133Cys	1					VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.F133C	p.F133C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	1	2	3	2.183349	Q6UXI7	VITRN_HUMAN		5	700	+		all_hematologic(82;0.248)	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	1	1	hg19	c.398T>G	CCDS54347.1	1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815856	0.70912	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.63	5.63	0.86233	5.63	5.63	0.86233	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.983;0.971;0.989;0.989;0.999	D	0.97115	0.9807	10	0.87932	D	0	-22.4825	15.5314	0.75964	0.0:0.0:0.0:1.0	.	133;133;133;133;133;133	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	133;133;133;133;111;133;133	ENSP00000368544:F133C;ENSP00000374625:F133C;ENSP00000393561:F133C;ENSP00000384154:F111C;ENSP00000368543:F133C;ENSP00000385658:F133C	ENSP00000368543:F133C	F	+	2	0	0	VIT	36835690	36835690	1.000000	0.71417	0.905000	0.35620	0.637000	0.38172	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				46	45		223	217	1		1	0		0	0	54	0		1	3.060560e-02	0	0	0	2	0	46	223
VIT	5212	broad.mit.edu	37	2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000389975.3	+	7	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000379242.3_Missense_Mutation_p.A189D	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	189					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			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)				CAGCTTCTGGCTGTCACTGTA	0.552																																						ENST00000389975.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(565-567)gCt>gAt		vitrin							78.0	69.0	72.0					2																	36994315		2203	4300	6503	SO:0001583	missense	5212	0	0					g.chr2:36994315C>A	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.566C>A	chr2.hg19:g.36994315C>A	ENSP00000374625:p.Ala189Asp	1					VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.A189D	p.A189D	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	1	2	3	2.183349	Q6UXI7	VITRN_HUMAN		7	868	+		all_hematologic(82;0.248)	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	1	1	hg19	c.566C>A	CCDS54347.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744730	0.30865	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.68765	-0.35;-0.28;-0.25;-0.19;-0.25	5.55	1.8	0.24995	5.55	1.8	0.24995	.	0.653797	0.15080	N	0.281690	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.39782	0.094;0.302;0.201;0.688	B;B;B;B	0.36134	0.037;0.075;0.051;0.218	T	0.22347	-1.0219	10	0.30854	T	0.27	1.337	5.1502	0.15005	0.0:0.4925:0.2127:0.2948	.	189;189;189;189	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	D	189;189;167;189;189	ENSP00000368544:A189D;ENSP00000374625:A189D;ENSP00000384154:A167D;ENSP00000368543:A189D;ENSP00000385658:A189D	ENSP00000368543:A189D	A	+	2	0	0	VIT	36847819	36847819	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.630000	0.24553	0.051000	0.15978	-0.145000	0.13849	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				44	41		176	174	1		1			0	0	41	0		1	0	0	0	0	0	0	44	176
VIT	5212	broad.mit.edu	37	2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000389975.3	+	14	1813	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	504	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)			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)				GACGGCTCCAGCAGTGTGGGG	0.612																																						ENST00000389975.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1510-1512)aGc>aTc		vitrin							66.0	64.0	65.0					2																	37035781		2203	4300	6503	SO:0001583	missense	5212	0	0					g.chr2:37035781G>T	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.1511G>T	chr2.hg19:g.37035781G>T	ENSP00000374625:p.Ser504Ile	1					VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I	p.S504I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	1	2	3	2.183349	Q6UXI7	VITRN_HUMAN		14	1813	+		all_hematologic(82;0.248)	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	1	1	hg19	c.1511G>T	CCDS54347.1	1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916504	0.73098	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.27	5.27	0.74061	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.80183	2.485	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	0.90202	0.4258	10	0.72032	D	0.01	-25.2816	18.9114	0.92487	0.0:0.0:1.0:0.0	.	483;482;504;519	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	519;504;173;456;482;483	ENSP00000368544:S519I;ENSP00000374625:S504I;ENSP00000417874:S173I;ENSP00000384154:S456I;ENSP00000368543:S482I;ENSP00000385658:S483I	ENSP00000368543:S482I	S	+	2	0	0	VIT	36889285	36889285	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.827000	0.99397	2.461000	0.83175	0.557000	0.71058	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000				103	102		329	326	1		1			0	0	97	0		1	0	0	0	0	0	0	103	329
STRN	6801	broad.mit.edu	37	2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	632					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388																																						ENST00000263918.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1894-1896)Gca>Aca		striatin, calmodulin binding protein							165.0	140.0	149.0					2																	37082439		2203	4300	6503	SO:0001583	missense	6801	0	0					g.chr2:37082439C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1894G>A	chr2.hg19:g.37082439C>T	ENSP00000263918:p.Ala632Thr	1					STRN_ENST00000379213.2_Missense_Mutation_p.A583T	p.A632T	NM_003162.3	NP_003153.2	1	2	3	2.183349	O43815	STRN_HUMAN		15	1902	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	1	1	hg19	c.1894G>A	CCDS1784.1	1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213098	0.39102	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.26810	1.71;1.71	5.21	3.4	0.38934	5.21	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172324	0.53938	D	0.000053	T	0.16599	0.0399	N	0.26092	0.79	0.48040	D	0.999572	B;B	0.19817	0.028;0.039	B;B	0.20577	0.03;0.027	T	0.06232	-1.0838	10	0.15952	T	0.53	-14.2069	11.193	0.48696	0.0:0.8504:0.0:0.1496	.	583;632	O43815-2;O43815	.;STRN_HUMAN	T	632;607;583	ENSP00000263918:A632T;ENSP00000368513:A583T	ENSP00000263918:A632T	A	-	1	0	0	STRN	36935943	36935943	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.429000	0.34903	0.577000	0.29470	0.591000	0.81541	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-19.999800	1	0.170000				43	42		207	202	1		1	1		0	0	68	0		1	9.999997e-01	0	29	0	86	0	43	207
HEATR5B	54497	broad.mit.edu	37	2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C	rs571134703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1988						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				AGAATTTTCATCCAGCAGGTA	0.358																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(5962-5964)gAt>gGt		HEAT repeat containing 5B							66.0	73.0	70.0					2																	37208886		2203	4300	6503	SO:0001583	missense	54497	0	0					g.chr2:37208886T>C	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.5963A>G	chr2.hg19:g.37208886T>C	ENSP00000233099:p.Asp1988Gly	1					HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	p.D1988G	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		36	6058	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	1	1	hg19	c.5963A>G	CCDS33181.1	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136813	0.77662	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51817	0.76;0.69	5.61	5.61	0.85477	5.61	5.61	0.85477	Armadillo-type fold (1);	0.049812	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75615	2.305	0.34128	D	0.664921	P;P	0.41624	0.53;0.757	P;P	0.51866	0.571;0.682	T	0.75193	-0.3404	10	0.54805	T	0.06	-21.388	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1988;1988	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1988;1899	ENSP00000233099:D1988G;ENSP00000346531:D1899G	ENSP00000233099:D1988G	D	-	2	0	0	HEATR5B	37062390	37062390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.254000	0.74563	0.533000	0.62120	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_019024			127	126		358	349	1		1	1		0	0	83	0		1	9.999999e-01	0	26	0	42	0	127	358
HEATR5B	54497	broad.mit.edu	37	2	37215952	37215952	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1916						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				AAAGGGCACGATTGGAATGCT	0.363																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(5746-5748)aaT>aaC		HEAT repeat containing 5B							105.0	110.0	108.0					2																	37215952		2203	4300	6503	SO:0001819	synonymous_variant	54497	0	0					g.chr2:37215952A>G	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.5748T>C	chr2.hg19:g.37215952A>G		1					HEATR5B_ENST00000354531.2_Silent_p.N1827N	p.N1916N	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		35	5843	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	1	1	hg19	c.5748T>C	CCDS33181.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_019024			88	88		320	310	1		1	1		0	0	105	0		1	9.999997e-01	0	32	0	49	0	88	320
HEATR5B	54497	broad.mit.edu	37	2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1632						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				TGATCTTCTGCAATATGGACT	0.403																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(4894-4896)Gca>Aca		HEAT repeat containing 5B							137.0	127.0	130.0					2																	37232786		2203	4300	6503	SO:0001583	missense	54497	0	0					g.chr2:37232786C>T	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.4894G>A	chr2.hg19:g.37232786C>T	ENSP00000233099:p.Ala1632Thr	1					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	p.A1632T	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		30	4989	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	1	1	hg19	c.4894G>A	CCDS33181.1	1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629953	0.67015	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.52295	0.67;0.67	5.63	5.63	0.86233	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056422	0.64402	D	0.000001	T	0.32466	0.0830	N	0.10874	0.06	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08493	-1.0719	10	0.22706	T	0.39	-17.3207	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1632	Q9P2D3	HTR5B_HUMAN	T	1632	ENSP00000233099:A1632T;ENSP00000346531:A1632T	ENSP00000233099:A1632T	A	-	1	0	0	HEATR5B	37086290	37086290	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_019024			70	68		350	346	1		1	1		0	0	95	0		1	9.998379e-01	0	11	0	55	0	70	350
HEATR5B	54497	broad.mit.edu	37	2	37268381	37268381	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	917						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				GATGCAAACAACCAAGAGCCA	0.428																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2749-2751)ggT>ggC		HEAT repeat containing 5B							180.0	156.0	164.0					2																	37268381		2203	4300	6503	SO:0001819	synonymous_variant	54497	0	0					g.chr2:37268381A>G	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.2751T>C	chr2.hg19:g.37268381A>G		1					HEATR5B_ENST00000354531.2_Silent_p.G917G	p.G917G	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		19	2846	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	1	1	hg19	c.2751T>C	CCDS33181.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_019024			134	128		410	400	1		1	1		0	0	74	0		1	9.999080e-01	0	18	0	26	0	134	410
HEATR5B	54497	broad.mit.edu	37	2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	784						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				AGGGCCACAGAAGCATCAATG	0.408																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2350-2352)Tct>Gct		HEAT repeat containing 5B							90.0	96.0	94.0					2																	37283632		2202	4300	6502	SO:0001583	missense	54497	0	0					g.chr2:37283632A>C	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.2350T>G	chr2.hg19:g.37283632A>C	ENSP00000233099:p.Ser784Ala	1					HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	p.S784A	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		16	2445	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	1	1	hg19	c.2350T>G	CCDS33181.1	1	.	.	.	.	.	.	.	.	.	.	A	8.025	0.760378	0.15914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.58652	0.32;0.32	5.5	5.5	0.81552	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.13168	0.305	0.58432	D	0.999998	B	0.09022	0.002	B	0.15052	0.012	T	0.31052	-0.9957	10	0.02654	T	1	-18.8094	15.5924	0.76543	1.0:0.0:0.0:0.0	.	784	Q9P2D3	HTR5B_HUMAN	A	784	ENSP00000233099:S784A;ENSP00000346531:S784A	ENSP00000233099:S784A	S	-	1	0	0	HEATR5B	37137136	37137136	1.000000	0.71417	0.661000	0.29709	0.879000	0.50718	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	0	0	0		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_019024			144	144		442	432	1		1	1		0	0	121	0		1	9.999936e-01	0	26	0	29	0	144	442
HEATR5B	54497	broad.mit.edu	37	2	37286131	37286131	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				CTCCTCATGGCTAGATAAAAT	0.328																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999750	0.990000	1.000000																										0				77						c.e13-1		HEAT repeat containing 5B							79.0	75.0	76.0					2																	37286131		2203	4300	6503	SO:0001630	splice_region_variant	54497	0	0					g.chr2:37286131C>T	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.1850-1G>A	chr2.hg19:g.37286131C>T		1					HEATR5B_ENST00000354531.2_Splice_Site		NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		13	1945	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Splice_Site	SNP	ENST00000233099.5	0	1	hg19		CCDS33181.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304176	0.81136	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	6.13	6.13	0.99165	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	HEATR5B	37139635	37139635	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.979000	0.70508	2.932000	0.99384	0.644000	0.83932	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-14.003480	1	0.170000	NM_019024	Intron		29	29		196	196	1		1	1		0	0	24	0		1	1.840756e-01	0	5	0	1	0	29	196
HEATR5B	54497	broad.mit.edu	37	2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	312						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)				CACAAAAACAACATACGCCTG	0.423																																						ENST00000233099.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(934-936)gTt>gCt		HEAT repeat containing 5B							57.0	55.0	56.0					2																	37296066		2203	4300	6503	SO:0001583	missense	54497	0	0					g.chr2:37296066A>G	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.935T>C	chr2.hg19:g.37296066A>G	ENSP00000233099:p.Val312Ala	1					HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	p.V312A	NM_019024.1	NP_061897.1	1	2	3	2.183349	Q9P2D3	HTR5B_HUMAN		8	1030	-		all_hematologic(82;0.21)	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	1	1	hg19	c.935T>C	CCDS33181.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370946	0.82573	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07800	3.16;3.16	5.66	5.66	0.87406	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00731	-1.1590	10	0.34782	T	0.22	-25.8704	16.1819	0.81915	1.0:0.0:0.0:0.0	.	312	Q9P2D3	HTR5B_HUMAN	A	312	ENSP00000233099:V312A;ENSP00000346531:V312A	ENSP00000233099:V312A	V	-	2	0	0	HEATR5B	37149570	37149570	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.182000	0.94881	2.279000	0.76181	0.533000	0.62120	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_019024			51	49		132	130	1		1	1		0	0	38	0		1	9.996566e-01	0	16	0	19	0	51	132
EIF2AK2	5610	broad.mit.edu	37	2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	206					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343																																						ENST00000233057.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(616-618)Ggt>Tgt		eukaryotic translation initiation factor 2-alpha kinase 2							115.0	117.0	116.0					2																	37365484		2203	4300	6503	SO:0001583	missense	5610	0	0					g.chr2:37365484C>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.616G>T	chr2.hg19:g.37365484C>A	ENSP00000233057:p.Gly206Cys	1					EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C	p.G206C	NM_001135651.2	NP_001129123.1	1	2	3	2.183349	P19525	E2AK2_HUMAN		8	938	-		all_hematologic(82;0.248)	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	1	1	hg19	c.616G>T	CCDS1786.1	1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161239	0.21538	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.75821	-0.92;-0.92;-0.97	3.68	1.3	0.21679	3.68	1.3	0.21679	.	0.813962	0.10845	N	0.627788	T	0.53965	0.1829	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43392	0.805;0.805;0.805;0.805	B;B;B;B	0.39185	0.293;0.285;0.285;0.198	T	0.46386	-0.9195	10	0.62326	D	0.03	-6.8153	5.5406	0.17036	0.0:0.2286:0.0:0.7714	.	206;206;206;206	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	206	ENSP00000233057:G206C;ENSP00000378559:G206C;ENSP00000385014:G206C	ENSP00000233057:G206C	G	-	1	0	0	EIF2AK2	37218988	37218988	0.006000	0.16342	0.009000	0.14445	0.001000	0.01503	0.034000	0.13776	0.267000	0.21916	-0.416000	0.06073	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	1	0	1		20	2	2	0		0	1	62		62	61	1	2.060000	-2.615543	1	0.170000	NM_002759			63	62		322	320	1		1	1		0	0	62	0		9.999999e-01	1	0	43	0	197	0	63	322
SULT6B1	391365	broad.mit.edu	37	2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000535679.1	-	3	367	c.368A>C	c.(367-369)aAa>aCa	p.K123T	SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	123						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358																																						ENST00000535679.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(367-369)aAa>aCa		sulfotransferase family, cytosolic, 6B, member 1							134.0	132.0	133.0					2																	37410602		2203	4300	6503	SO:0001583	missense	391365	0	0					g.chr2:37410602T>G	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.368A>C	chr2.hg19:g.37410602T>G	ENSP00000444081:p.Lys123Thr	1					SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T	p.K123T			1	2	3	2.183349	Q6IMI4	ST6B1_HUMAN		3	367	-		all_hematologic(82;0.248)	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	1	1	hg19	c.368A>C		1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630608	0.28978	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.10960	2.82;2.82;2.82	4.73	3.59	0.41128	4.73	3.59	0.41128	Sulfotransferase domain (1);	0.363897	0.29198	N	0.012846	T	0.11922	0.0290	L	0.39147	1.195	0.27889	N	0.939396	P	0.34615	0.459	B	0.42959	0.403	T	0.15292	-1.0442	10	0.22706	T	0.39	.	9.2246	0.37398	0.0:0.0873:0.0:0.9127	.	123	Q6IMI4	ST6B1_HUMAN	T	123;85;85	ENSP00000444081:K123T;ENSP00000260637:K85T;ENSP00000384950:K85T	ENSP00000260637:K85T	K	-	2	0	0	SULT6B1	37264106	37264106	0.768000	0.28519	0.991000	0.47740	0.980000	0.70556	0.641000	0.24720	0.843000	0.35070	0.477000	0.44152	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001032377			146	141		341	331	1		1			0	0	69	0		1	0	0	0	0	0	0	146	341
SULT6B1	391365	broad.mit.edu	37	2	37415634	37415634	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000535679.1	-	1	149	c.150C>A	c.(148-150)acC>acA	p.T50T	SULT6B1_ENST00000407963.1_Silent_p.T12T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000379149.2_Silent_p.T50T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	50						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGCTTCGAAGGTGTCCAGCG	0.438																																						ENST00000535679.1	0.490000	0.160000	4.000000e-01	2.300000e-01	0.300000	0.320672	0.300000	0.300000																										0				12						c.(148-150)acC>acA		sulfotransferase family, cytosolic, 6B, member 1							213.0	183.0	193.0					2																	37415634		2203	4300	6503	SO:0001819	synonymous_variant	391365	0	0					g.chr2:37415634G>T	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.150C>A	chr2.hg19:g.37415634G>T		1					SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T	p.T50T			1	2	3	2.183349	Q6IMI4	ST6B1_HUMAN		1	149	-		all_hematologic(82;0.248)	B2RTS7	Silent	SNP	ENST00000535679.1	1	1	hg19	c.150C>A		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-2.688569	1	0.170000	NM_001032377			13	12		539	533	0		1			0	0	94	0		9.995000e-01	0	0	0	0	0	0	13	539
CEBPZ	10153	broad.mit.edu	37	2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	543					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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GTGTAATATCGATCCGATATT	0.378																																						ENST00000234170.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1627-1629)Cga>Tga		CCAAT/enhancer binding protein (C/EBP), zeta							112.0	114.0	113.0					2																	37454709		2203	4300	6503	SO:0001587	stop_gained	10153	0	0					g.chr2:37454709G>A	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.1627C>T	chr2.hg19:g.37454709G>A	ENSP00000234170:p.Arg543*	1						p.R543*	NM_005760.2	NP_005751.2	1	2	3	2.183349	Q03701	CEBPZ_HUMAN		2	1772	-		all_hematologic(82;0.21)	Q8NE75	Nonsense_Mutation	SNP	ENST00000234170.5	0	1	hg19	c.1627C>T	CCDS1787.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.375508	0.98245	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7983	0.63184	0.0:0.0:0.7444:0.2555	.	.	.	.	X	543	.	ENSP00000234170:R543X	R	-	1	2	2	CEBPZ	37308213	37308213	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.836000	0.69375	2.694000	0.91930	0.585000	0.79938	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	1	0	0		2	2	2	0		0	0	115		115	112	1	2.060000	-20.000000	1	0.170000	NM_005760			181	180		509	503	1		1	1		0	0	115	0		1	1	0	7	0	93	0	181	509
CEBPZ	10153	broad.mit.edu	37	2	37454764	37454764	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	524					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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAGCCTGGACACTGGTAT	0.378																																						ENST00000234170.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1570-1572)gtC>gtA		CCAAT/enhancer binding protein (C/EBP), zeta							112.0	111.0	111.0					2																	37454764		2203	4300	6503	SO:0001819	synonymous_variant	10153	0	0					g.chr2:37454764G>T	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.1572C>A	chr2.hg19:g.37454764G>T		1						p.V524V	NM_005760.2	NP_005751.2	1	2	3	2.183349	Q03701	CEBPZ_HUMAN		2	1717	-		all_hematologic(82;0.21)	Q8NE75	Silent	SNP	ENST00000234170.5	1	1	hg19	c.1572C>A	CCDS1787.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	1	0	0		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_005760			113	111		522	515	1		1	1		0	0	106	0		1	9.999900e-01	0	16	0	61	0	113	522
PRKD3	23683	broad.mit.edu	37	2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3	318					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)			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)				CAGTCTCTTGGTACTTTTGAT	0.318																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(952-954)Cca>Tca		protein kinase D3							117.0	117.0	117.0					2																	37509721		2203	4300	6503	SO:0001583	missense	23683	0	0					g.chr2:37509721G>A	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.952C>T	chr2.hg19:g.37509721G>A	ENSP00000368356:p.Pro318Ser	1					PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S	p.P318S			1	2	3	2.183349	O94806	KPCD3_HUMAN		7	1714	-		all_hematologic(82;0.21)	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	1	1	hg19	c.952C>T	CCDS1789.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.320904	0.95682	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92911	-3.13;-3.13	5.62	5.62	0.85841	5.62	5.62	0.85841	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.988;0.994	D	0.95794	0.8827	10	0.87932	D	0	-14.6863	20.024	0.97514	0.0:0.0:1.0:0.0	.	318;318	O94806-2;O94806	.;KPCD3_HUMAN	S	318	ENSP00000368356:P318S;ENSP00000234179:P318S	ENSP00000234179:P318S	P	-	1	0	0	PRKD3	37363225	37363225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	0	0	0		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_005813			105	105		326	322	1		1	0		0	0	74	0		1	9.999994e-01	0	1	0	66	0	105	326
PRKD3	23683	broad.mit.edu	37	2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3	312					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)			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)				TGATGCACAGCGTTTATGGCA	0.313																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(934-936)cGc>cAc		protein kinase D3							114.0	114.0	114.0					2																	37509738		2203	4300	6503	SO:0001583	missense	23683	0	0					g.chr2:37509738C>T	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.935G>A	chr2.hg19:g.37509738C>T	ENSP00000368356:p.Arg312His	1					PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H	p.R312H			1	2	3	2.183349	O94806	KPCD3_HUMAN		7	1697	-		all_hematologic(82;0.21)	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	1	1	hg19	c.935G>A	CCDS1789.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.579135	0.96565	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.93604	-3.25;-3.25	5.51	5.51	0.81932	5.51	5.51	0.81932	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.847;0.996	D	0.96357	0.9263	10	0.87932	D	0	-14.1888	19.7654	0.96337	0.0:1.0:0.0:0.0	.	312;312	O94806-2;O94806	.;KPCD3_HUMAN	H	312	ENSP00000368356:R312H;ENSP00000234179:R312H	ENSP00000234179:R312H	R	-	2	0	0	PRKD3	37363242	37363242	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	1	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_005813			99	99		317	312	1		1	0		0	0	71	0		1	9.999997e-01	0	1	0	71	0	99	317
PRKD3	23683	broad.mit.edu	37	2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3	111					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)			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)				TGGCGAAAGAGAAGAATTTTG	0.373																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				33						c.(331-333)Ctc>Atc		protein kinase D3							105.0	99.0	101.0					2																	37520372		2203	4300	6503	SO:0001583	missense	23683	0	0					g.chr2:37520372G>T	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.331C>A	chr2.hg19:g.37520372G>T	ENSP00000368356:p.Leu111Ile	1					PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I	p.L111I			1	2	3	2.183349	O94806	KPCD3_HUMAN		3	1093	-		all_hematologic(82;0.21)	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	1	1	hg19	c.331C>A	CCDS1789.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804090	0.90623	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.90261	-0.82;-0.82;-2.64	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.94650	0.8275	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.99;0.992	D	0.94648	0.7836	10	0.66056	D	0.02	-9.5135	12.6994	0.57022	0.0755:0.0:0.9245:0.0	.	111;111	O94806-2;O94806	.;KPCD3_HUMAN	I	111;111;7	ENSP00000368356:L111I;ENSP00000234179:L111I;ENSP00000401839:L7I	ENSP00000234179:L111I	L	-	1	0	0	PRKD3	37373876	37373876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.634000	0.89283	0.655000	0.94253	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-19.669590	1	0.170000	NM_005813			47	47		315	313	1		1	0		0	0	61	0		1	9.971976e-01	0	0	0	62	0	47	315
QPCT	25797	broad.mit.edu	37	2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	105					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)			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)				CTGGGTCTTGGAAATAGACAC	0.423																																						ENST00000338415.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(313-315)Gaa>Aaa		glutaminyl-peptide cyclotransferase							83.0	72.0	76.0					2																	37586768		2203	4300	6503	SO:0001583	missense	25797	0	0					g.chr2:37586768G>A	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.313G>A	chr2.hg19:g.37586768G>A	ENSP00000344829:p.Glu105Lys	1					QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	p.E105K	NM_012413.3	NP_036545.1	1	2	3	2.183349	Q16769	QPCT_HUMAN		3	471	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	1	1	hg19	c.313G>A	CCDS1790.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445183	0.83993	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.098347	0.64402	D	0.000001	T	0.57344	0.2047	M	0.85462	2.755	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.57152	0.561;0.814	T	0.64019	-0.6505	10	0.66056	D	0.02	-11.9925	19.4608	0.94916	0.0:0.0:1.0:0.0	.	56;105	Q16769-2;Q16769	.;QPCT_HUMAN	K	105;56;56	ENSP00000344829:E105K;ENSP00000385391:E56K;ENSP00000441606:E56K	ENSP00000344829:E105K	E	+	1	0	0	QPCT	37440272	37440272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.119000	0.71590	2.587000	0.87381	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				71	70		340	337	1		1	0		0	0	67	0		1	9.999914e-01	0	0	0	83	0	71	340
CYP1B1	1545	broad.mit.edu	37	2	38298132	38298132	+	Silent	SNP	G	G	A	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000407341.1_Silent_p.D455D|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	455					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)			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)	TGCTGGTCAGGTCCTTGTTGA	0.488																																						ENST00000260630.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1363-1365)gaC>gaT		cytochrome P450, family 1, subfamily B, polypeptide 1	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)	G		1,4405	2.1+/-5.4	0,1,2202	83.0	78.0	79.0		1365	0.8	1.0	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CYP1B1	NM_000104.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		455/544	38298132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1545	1	121412	34				g.chr2:38298132G>A	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.1365C>T	chr2.hg19:g.38298132G>A		1					CYP1B1_ENST00000407341.1_Silent_p.D455D|CYP1B1_ENST00000494864.1_5'UTR	p.D455D	NM_000104.3	NP_000095	1	2	3	2.183349	Q16678	CP1B1_HUMAN		3	1766	-		all_hematologic(82;0.21)	Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	1	1	hg19	c.1365C>T	CCDS1793.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000104			58	57		273	271	1		1	0		0	0	61	0		1	1	0	1	0	143	0	58	273
CYP1B1	1545	broad.mit.edu	37	2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	393					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)			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)	AGGCACAAAGCTGGAGAAGCG	0.547																																						ENST00000260630.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1177-1179)aGc>aTc		cytochrome P450, family 1, subfamily B, polypeptide 1	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)						49.0	43.0	45.0					2																	38298319		2203	4298	6501	SO:0001583	missense	1545	0	0					g.chr2:38298319C>A	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.1178G>T	chr2.hg19:g.38298319C>A	ENSP00000260630:p.Ser393Ile	1					CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I|CYP1B1_ENST00000494864.1_5'UTR	p.S393I	NM_000104.3	NP_000095	1	2	3	2.183349	Q16678	CP1B1_HUMAN		3	1579	-		all_hematologic(82;0.21)	Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	1	1	hg19	c.1178G>T	CCDS1793.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240725	0.79912	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.80033	-1.33;-1.33	5.85	4.97	0.65823	5.85	4.97	0.65823	.	0.255155	0.50627	D	0.000108	D	0.90109	0.6910	M	0.85859	2.78	0.45250	D	0.99825	D	0.76494	0.999	D	0.76575	0.988	D	0.91609	0.5301	10	0.87932	D	0	.	14.1707	0.65508	0.1509:0.8491:0.0:0.0	.	393	Q53TK1	.	I	393	ENSP00000260630:S393I;ENSP00000384972:S393I	ENSP00000260630:S393I	S	-	2	0	0	CYP1B1	38151823	38151823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	1.461000	0.47929	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000104			66	61		192	186	1		1	0		0	0	49	0		1	1	0	0	0	122	0	66	192
GEMIN6	79833	broad.mit.edu	37	2	39008821	39008821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.3	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	97					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ACAGCCCAGAGGATCTGGAAG	0.493																																						ENST00000281950.3	0.640000	0.180000	5.100000e-01	2.600000e-01	0.370000	0.394818	0.370000	0.360000																										0				5						c.(289-291)gaG>gaT		gem (nuclear organelle) associated protein 6							89.0	76.0	81.0					2																	39008821		2203	4300	6503	SO:0001583	missense	79833	0	0					g.chr2:39008821G>T	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.291G>T	chr2.hg19:g.39008821G>T	ENSP00000281950:p.Glu97Asp	1					GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	p.E97D	NM_024775.9	NP_079051.9	1	2	3	2.183349	Q8WXD5	GEMI6_HUMAN		3	407	+		all_hematologic(82;0.21)	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	0	1	hg19	c.291G>T	CCDS1799.1	0	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413864	0.42817	.	.	ENSG00000152147	ENST00000281950	T	0.52057	0.68	5.78	4.9	0.64082	5.78	4.9	0.64082	.	0.096259	0.64402	D	0.000001	T	0.46151	0.1378	L	0.48362	1.52	0.80722	D	1	P	0.38745	0.645	P	0.44623	0.455	T	0.44251	-0.9340	10	0.49607	T	0.09	-23.839	8.9799	0.35959	0.2233:0.0:0.7767:0.0	.	97	Q8WXD5	GEMI6_HUMAN	D	97	ENSP00000281950:E97D	ENSP00000281950:E97D	E	+	3	2	2	GEMIN6	38862325	38862325	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.425000	0.44723	1.459000	0.47892	0.591000	0.81541	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3	0	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-9.667054	1	0.170000				9	8		309	299	0		1	1		0	0	57	0		9.934138e-01	9.196268e-01	0	10	0	144	0	9	309
DHX57	90957	broad.mit.edu	37	2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1291							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)				ATGAATACTCGACTAGTTTTT	0.473																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3871-3873)Cga>Tga		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							190.0	183.0	185.0					2																	39030003		2203	4300	6503	SO:0001587	stop_gained	90957	0	0					g.chr2:39030003G>A	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.3871C>T	chr2.hg19:g.39030003G>A	ENSP00000295373:p.Arg1291*	1						p.R1291*	NM_198963.1	NP_945314.1	1	2	3	2.183349	Q6P158	DHX57_HUMAN		23	3997	-		all_hematologic(82;0.248)	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	0	1	hg19	c.3871C>T	CCDS1800.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.309689|5.309689	0.95629|0.95629	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|T	.|0.05717	.|3.4	5.64|5.64	4.76|4.76	0.60689|0.60689	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.48767|.	D|.	0.000166|.	.|T	.|0.18257	.|0.0438	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	0.06625|0.87932	T|D	0.88|0	.|.	14.431|14.431	0.67251|0.67251	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	.|.	.|.	.|.	X|L	1291|569	.|ENSP00000397841:S569L	ENSP00000295373:R1291X|ENSP00000397841:S569L	R|S	-|-	1|2	2|0	2|0	DHX57|DHX57	38883507|38883507	38883507|38883507	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.159000|0.159000	0.22180|0.22180	7.860000|7.860000	0.86993|0.86993	1.381000|1.381000	0.46364|0.46364	0.455000|0.455000	0.32223|0.32223	CGA|TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	0	0	1		2	2	2	0		0	0	151		151	148	1	2.060000	-3.227985	1	0.170000	NM_145646			126	125		624	613	1		1	0		0	0	151	0		1	9.996580e-01	0	0	0	59	0	126	624
DHX57	90957	broad.mit.edu	37	2	39033740	39033740	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1259							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)				GTACATATCCATCGTTCTTGG	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6	1.000000	0.800000	1	9.300000e-01	0.990000	0.976415	0.990000	1.000000																										0				62						c.(3775-3777)gaT>gaC		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							221.0	189.0	200.0					2																	39033740		2203	4300	6503	SO:0001819	synonymous_variant	90957	1	121412	35				g.chr2:39033740A>G	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.3777T>C	chr2.hg19:g.39033740A>G		1						p.D1259D	NM_198963.1	NP_945314.1	1	2	3	2.183349	Q6P158	DHX57_HUMAN		22	3903	-		all_hematologic(82;0.248)	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	1	1	hg19	c.3777T>C	CCDS1800.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_145646			45	43		485	471	0		1	1		0	0	120	0		1	9.706629e-01	0	10	0	53	0	45	485
DHX57	90957	broad.mit.edu	37	2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	967	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)				GATGCAACACGGCCTGCTCGG	0.428																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2899-2901)Cgt>Tgt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							102.0	97.0	99.0					2																	39053104		2203	4300	6503	SO:0001583	missense	90957	0	0					g.chr2:39053104G>A	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.2899C>T	chr2.hg19:g.39053104G>A	ENSP00000295373:p.Arg967Cys	1						p.R967C	NM_198963.1	NP_945314.1	1	2	3	2.183349	Q6P158	DHX57_HUMAN		16	3025	-		all_hematologic(82;0.248)	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	1	1	hg19	c.2899C>T	CCDS1800.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185001|5.185001	0.94885|0.94885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|D	.|0.94793	.|-3.52	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Helicase, C-terminal (3);	.|0.000000	.|0.56097	.|D	.|0.000036	D|D	0.98551|0.98551	0.9516|0.9516	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99379|0.99379	1.0922|1.0922	5|10	.|0.87932	.|D	.|0	.|.	19.7628|19.7628	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;359	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	L|C	290|967	.|ENSP00000295373:R967C	.|ENSP00000295373:R967C	P|R	-|-	2|1	0|0	0|0	DHX57|DHX57	38906608|38906608	38906608|38906608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.338000|9.338000	0.96553|0.96553	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	CCG|CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-6.413752	1	0.170000	NM_145646			115	115		316	312	1		1	1		0	0	77	0		1	9.986436e-01	0	13	0	17	0	115	316
DHX57	90957	broad.mit.edu	37	2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T	rs374541160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	582	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)				GAATCATCCAGAATAAACTGC	0.413																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1744-1746)Ctg>Atg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							124.0	119.0	120.0					2																	39082360		2203	4300	6503	SO:0001583	missense	90957	0	0					g.chr2:39082360G>T	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.1744C>A	chr2.hg19:g.39082360G>T	ENSP00000295373:p.Leu582Met	1					DHX57_ENST00000479345.2_5'Flank	p.L582M	NM_198963.1	NP_945314.1	1	2	3	2.183349	Q6P158	DHX57_HUMAN		8	1870	-		all_hematologic(82;0.248)	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	1	1	hg19	c.1744C>A	CCDS1800.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564249	0.65651	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.26	4.38	0.52667	5.26	4.38	0.52667	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40728	N	0.001022	T	0.24353	0.0590	M	0.74546	2.27	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	.	6.7108	0.23276	0.3053:0.0:0.6947:0.0	.	582;582;582	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	M	582	ENSP00000295373:L582M	ENSP00000295373:L582M	L	-	1	2	2	DHX57	38935864	38935864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.350000	0.45770	0.650000	0.86243	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-20.000000	1	0.170000	NM_145646			204	201		605	595	1		1	1	1	0	0	157	675		1	9.992559e-01	1	15	142	19	715	204	605
SOS1	6654	broad.mit.edu	37	2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000426016.1	-	11	1746	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F|SOS1_ENST00000395038.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	554			LDVTM -> K (in NS4). {ECO:0000269|PubMed:21387466}.		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)			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)				GTTACATCAAGCATCCTTTCC	0.398									Noonan syndrome																													ENST00000426016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1660-1662)Ctt>Ttt		son of sevenless homolog 1 (Drosophila)							160.0	151.0	154.0					2																	39249909		2203	4300	6503	SO:0001583	missense	6654	1	121410	31	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	g.chr2:39249909G>A	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.1660C>T	chr2.hg19:g.39249909G>A	ENSP00000387784:p.Leu554Phe	1					SOS1_ENST00000402219.2_Missense_Mutation_p.L554F|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000395038.2_Missense_Mutation_p.L554F	p.L554F			1	2	3	2.183349	Q07889	SOS1_HUMAN		11	1746	-		all_hematologic(82;0.21)	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	1	1	hg19	c.1660C>T	CCDS1802.1	1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539986	0.65085	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93779	0.7082	10	0.87932	D	0	.	7.5761	0.27937	0.195:0.0:0.805:0.0	.	286;554	F5GX06;Q07889	.;SOS1_HUMAN	F	554;554;286;554;554	ENSP00000387784:L554F;ENSP00000384675:L554F;ENSP00000378479:L554F	ENSP00000263879:L554F	L	-	1	0	0	SOS1	39103413	39103413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	2.722000	0.93159	0.557000	0.71058	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_005633			140	139		402	395	1		1	1		0	0	84	0		1	1	0	32	0	42	0	140	402
SOS1	6654	broad.mit.edu	37	2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000426016.1	-	4	415	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000395038.2_Missense_Mutation_p.I110N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	110					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)			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)				TAAAGGATGAATTTTTTCTAC	0.343									Noonan syndrome																													ENST00000426016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(328-330)aTt>aAt		son of sevenless homolog 1 (Drosophila)							96.0	102.0	100.0					2																	39285830		2203	4300	6503	SO:0001583	missense	6654	0	0		Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	g.chr2:39285830A>T	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.329T>A	chr2.hg19:g.39285830A>T	ENSP00000387784:p.Ile110Asn	1					SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000395038.2_Missense_Mutation_p.I110N	p.I110N			1	2	3	2.183349	Q07889	SOS1_HUMAN		4	415	-		all_hematologic(82;0.21)	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	1	1	hg19	c.329T>A	CCDS1802.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612252	0.87258	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.9	5.9	0.94986	5.9	5.9	0.94986	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	110	Q07889	SOS1_HUMAN	N	110;110;110;110;53;53	ENSP00000387784:I110N;ENSP00000384675:I110N;ENSP00000378479:I110N;ENSP00000399992:I53N;ENSP00000393899:I53N	ENSP00000263879:I110N	I	-	2	0	0	SOS1	39139334	39139334	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_005633			104	104		534	529	1		1	1		0	0	71	0		1	9.992506e-01	0	6	0	50	0	104	534
CDKL4	344387	broad.mit.edu	37	2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000395035.3	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000378803.1_Nonsense_Mutation_p.Q309*			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393																																						ENST00000395035.3	1.000000	0.680000	1	7.900000e-01	0.910000	0.901032	0.910000	1.000000																										0				12						c.(925-927)Cag>Tag		cyclin-dependent kinase-like 4							116.0	113.0	114.0					2																	39406330		2203	4300	6503	SO:0001587	stop_gained	344387	0	0					g.chr2:39406330G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.925C>T	chr2.hg19:g.39406330G>A	ENSP00000378476:p.Gln309*	1					CDKL4_ENST00000378803.1_Nonsense_Mutation_p.Q309*	p.Q309*			1	2	3	2.183349	Q5MAI5	CDKL4_HUMAN		8	924	-		all_hematologic(82;0.248)	Q2NME9	Nonsense_Mutation	SNP	ENST00000395035.3	0	1	hg19	c.925C>T		1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337558	0.41398	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.411149	0.20810	N	0.085268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6979	14.7501	0.69519	0.0:0.0:1.0:0.0	.	.	.	.	X	91;309;309	.	ENSP00000368080:Q309X	Q	-	1	0	0	CDKL4	39259834	39259834	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.229000	0.58625	2.560000	0.86352	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-10.577110	1	0.170000	XM_293029			48	47		624	617	0		1			0	0	109	0		1	0	0	0	0	0	0	48	624
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338																																						ENST00000395035.3	1.000000	0.590000	1	7.200000e-01	0.860000	0.858507	0.860000	1.000000																										0				12						c.(316-318)Gta>Ata		cyclin-dependent kinase-like 4							80.0	88.0	85.0					2																	39440588		2203	4300	6503	SO:0001583	missense	344387	2	121410	35				g.chr2:39440588C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.316G>A	chr2.hg19:g.39440588C>T	ENSP00000378476:p.Val106Ile	1					CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I	p.V106I			1	2	3	2.183349	Q5MAI5	CDKL4_HUMAN		3	315	-		all_hematologic(82;0.248)	Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	1	1	hg19	c.316G>A		1	.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	4.67	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	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	0	CDKL4	39294092	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-7.419782	1	0.170000	XM_293029			29	29		401	395	0		1			0	0	91	0		1	0	0	0	0	0	0	29	401
CDKL4	344387	broad.mit.edu	37	2	39452999	39452999	+	Missense_Mutation	SNP	G	G	T	rs61744520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39452999G>T	ENST00000395035.3	-	2	270	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDKL4_ENST00000378803.1_Missense_Mutation_p.L91M			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTCTTTCCAGCTCATTTAAA	0.343																																						ENST00000395035.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				12						c.(271-273)Ctg>Atg		cyclin-dependent kinase-like 4							75.0	73.0	73.0					2																	39452999		2202	4299	6501	SO:0001583	missense	344387	0	0					g.chr2:39452999G>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.271C>A	chr2.hg19:g.39452999G>T	ENSP00000378476:p.Leu91Met	1					CDKL4_ENST00000378803.1_Missense_Mutation_p.L91M	p.L91M			1	2	3	2.183349	Q5MAI5	CDKL4_HUMAN		2	270	-		all_hematologic(82;0.248)	Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	1	0	hg19	c.271C>A		1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543965	0.65198	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.51817	0.69;0.69	5.9	5.02	0.67125	5.9	5.02	0.67125	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	0.43110	D	0.000603	T	0.55737	0.1939	L	0.45285	1.41	0.54753	D	0.999984	D;P	0.71674	0.998;0.93	D;D	0.75020	0.985;0.97	T	0.50709	-0.8796	10	0.11182	T	0.66	-12.4399	12.7028	0.57043	0.0789:0.0:0.9211:0.0	.	91;91	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	M	91	ENSP00000368080:L91M;ENSP00000378476:L91M	ENSP00000368080:L91M	L	-	1	2	2	CDKL4	39306503	39306503	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.081000	0.71309	1.502000	0.48669	0.650000	0.86243	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-2.886314	1	0.170000	XM_293029			24	24		110	109	1		1			0	0	29	0		9.999998e-01	0	0	0	0	0	0	24	110
MAP4K3	8491	broad.mit.edu	37	2	39494335	39494335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39494335C>T	ENST00000263881.3	-	27	2351	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	676	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)				CTTACCAACACAACACTTCTG	0.383																																						ENST00000263881.3	0.510000	0.170000	4.200000e-01	2.400000e-01	0.320000	0.334476	0.320000	0.310000																										0				44						c.(2026-2028)tGt>tAt		mitogen-activated protein kinase kinase kinase kinase 3							141.0	140.0	141.0					2																	39494335		2203	4300	6503	SO:0001583	missense	8491	0	0					g.chr2:39494335C>T	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.2027G>A	chr2.hg19:g.39494335C>T	ENSP00000263881:p.Cys676Tyr	1					MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	p.C676Y	NM_003618.3	NP_003609.2	1	2	3	2.183349	Q8IVH8	M4K3_HUMAN		27	2351	-		all_hematologic(82;0.211)	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	0	1	hg19	c.2027G>A	CCDS1803.1	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332204	0.81801	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.42	5.42	0.78866	5.42	5.42	0.78866	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	T	0.02553	-1.1142	10	0.66056	D	0.02	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	655;676	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	676;592;655;229	ENSP00000263881:C676Y;ENSP00000416958:C592Y;ENSP00000345434:C655Y;ENSP00000440580:C229Y	ENSP00000263881:C676Y	C	-	2	0	0	MAP4K3	39347839	39347839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	2.691000	0.91804	0.655000	0.94253	TGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	0	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.460893	1	0.170000	NM_003618			13	13		516	508	0		1	1		0	0	84	0		9.994931e-01	5.671579e-01	0	4	0	70	0	13	516
MAP4K3	8491	broad.mit.edu	37	2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			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)				TAATTTCTTGCTGCACAACTG	0.303																																						ENST00000263881.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(175-177)caG>caT		mitogen-activated protein kinase kinase kinase kinase 3							170.0	181.0	177.0					2																	39583458		2203	4298	6501	SO:0001583	missense	8491	0	0					g.chr2:39583458C>A	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.177G>T	chr2.hg19:g.39583458C>A	ENSP00000263881:p.Gln59His	1					MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	p.Q59H	NM_003618.3	NP_003609.2	1	2	3	2.183349	Q8IVH8	M4K3_HUMAN		3	501	-		all_hematologic(82;0.211)	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	1	1	hg19	c.177G>T	CCDS1803.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398983	0.83120	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.66460	-0.21;-0.21	5.48	4.59	0.56863	5.48	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	0.70456	0.3226	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.922;0.707	P;P	0.54924	0.764;0.655	T	0.68792	-0.5315	9	.	.	.	.	12.6098	0.56544	0.0:0.9184:0.0:0.0816	.	59;59	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	59	ENSP00000263881:Q59H;ENSP00000345434:Q59H	.	Q	-	3	2	2	MAP4K3	39436962	39436962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.236000	0.58675	2.563000	0.86464	0.561000	0.74099	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_003618			90	90		496	491	1		1	1		0	0	129	0		1	9.980252e-01	0	7	0	46	0	90	496
SLC8A1	6546	broad.mit.edu	37	2	40655686	40655686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000403092.1	-	2	1768	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	579	Calx-beta 2.				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)			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)	CTGGCAGTCCCTTCGATGGTT	0.428																																						ENST00000403092.1	0.440000	0.120000	3.500000e-01	1.800000e-01	0.250000	0.273020	0.250000	0.240000																										0				100						c.(1735-1737)Ggg>Tgg		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						97.0	100.0	99.0					2																	40655686		2203	4300	6503	SO:0001583	missense	6546	0	0					g.chr2:40655686C>A		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.1735G>T	chr2.hg19:g.40655686C>A	ENSP00000384763:p.Gly579Trp	1					SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G579W	p.G579W			1	2	3	2.183349	P32418	NAC1_HUMAN		2	1768	-			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	0	1	hg19	c.1735G>T	CCDS1806.1	0	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471845	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.87	5.87	0.94306	5.87	5.87	0.94306	Na-Ca exchanger/integrin-beta4 (2);	0.042921	0.85682	D	0.000000	T	0.80879	0.4708	H	0.97491	4.015	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;0.997;1.0;1.0;1.0	D	0.86691	0.1923	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	579;579;579;579;579	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	579	ENSP00000383886:G579W;ENSP00000440727:G579W;ENSP00000384763:G579W;ENSP00000385678:G579W;ENSP00000385188:G579W;ENSP00000385535:G579W;ENSP00000332931:G579W;ENSP00000384908:G579W;ENSP00000385811:G579W;ENSP00000443515:G579W	ENSP00000332931:G579W	G	-	1	0	0	SLC8A1	40509190	40509190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.907878	1	0.170000	NM_021097			10	10		499	477	0		1	0		0	0	76	0		9.961724e-01	2.377953e-01	0	0	0	42	0	10	499
EML4	27436	broad.mit.edu	37	2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	rs146370925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	343					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438			T	ALK	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18978	0.0		0.0	False		,,,				2504	0.0					ENST00000318522.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p21	2p21	27436	T	echinoderm microtubule associated protein like 4				E	E	ALK		NSCLC	EML4/ALK(543)	0				12						c.(1027-1029)Gtc>Atc		echinoderm microtubule associated protein like 4		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	159.0	135.0	143.0		853,1027	4.9	1.0	2	dbSNP_134	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	EML4	NM_001145076.1,NM_019063.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	285/924,343/982	42513424	2,13004	2203	4300	6503	SO:0001583	missense	27436	9	121412	42				g.chr2:42513424G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1027G>A	chr2.hg19:g.42513424G>A	ENSP00000320663:p.Val343Ile	1					EML4_ENST00000401738.3_Missense_Mutation_p.V354I|EML4_ENST00000402711.2_Missense_Mutation_p.V285I	p.V343I	NM_019063.3	NP_061936	1	2	3	2.183349	Q9HC35	EMAL4_HUMAN		10	1289	+			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	1	1	hg19	c.1027G>A	CCDS1807.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.851680	0.91355	0.0	2.33E-4	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.975;0.764;0.999	B;B;D	0.77557	0.353;0.391;0.99	T	0.53648	-0.8409	10	0.14252	T	0.57	-11.591	18.5327	0.90999	0.0:0.0:1.0:0.0	.	285;354;343	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	I	343;285;354	ENSP00000320663:V343I;ENSP00000385059:V285I;ENSP00000384939:V354I	ENSP00000320663:V343I	V	+	1	0	0	EML4	42366928	42366928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.438000	0.82558	0.650000	0.86243	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	1	0	1		17	2	2	0		0	1	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_019063			95	95		261	257	1		1	1		0	0	71	0		1	1	0	27	0	66	0	95	261
KCNG3	170850	broad.mit.edu	37	2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	131					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736																																						ENST00000306078.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999871	0.990000	1.000000																										0				6						c.(391-393)Gag>Aag		potassium voltage-gated channel, subfamily G, member 3							5.0	6.0	6.0					2																	42720251		1757	3694	5451	SO:0001583	missense	170850	0	0					g.chr2:42720251C>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.391G>A	chr2.hg19:g.42720251C>T	ENSP00000304127:p.Glu131Lys	1					KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K|MTA3_ENST00000405592.1_5'Flank	p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	1	2	3	2.183349	Q8TAE7	KCNG3_HUMAN		1	986	-			Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	1	1	hg19	c.391G>A	CCDS1809.1	1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929283	0.52759	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97553	-4.32;-4.43	3.95	3.95	0.45737	3.95	3.95	0.45737	.	0.481267	0.20652	N	0.088195	D	0.92368	0.7578	L	0.42245	1.32	0.53688	D	0.999971	P;P	0.40398	0.716;0.628	B;B	0.25759	0.041;0.063	D	0.91555	0.5260	10	0.42905	T	0.14	.	9.9485	0.41626	0.0:0.9055:0.0:0.0945	.	131;131	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	K	131	ENSP00000304127:E131K;ENSP00000378424:E131K	ENSP00000304127:E131K	E	-	1	0	0	KCNG3	42573755	42573755	0.999000	0.42202	0.830000	0.32933	0.594000	0.36715	4.229000	0.58625	2.024000	0.59613	0.462000	0.41574	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	1		2	2	2	0		0	0	14		14	12	1	2.060000	-20.000000	1	0.170000	NM_172344			16	16		78	75	0		1			0	0	14	0		9.999484e-01	0	0	0	0	0	0	16	78
KCNG3	170850	broad.mit.edu	37	2	42720563	42720563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	ENST00000306078.1	-	1	674	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	27					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AAGTCCTTCAGCAGCTCCCGG	0.726																																						ENST00000306078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(79-81)Ctg>Atg		potassium voltage-gated channel, subfamily G, member 3							10.0	11.0	10.0					2																	42720563		2136	4192	6328	SO:0001583	missense	170850	0	0					g.chr2:42720563G>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.79C>A	chr2.hg19:g.42720563G>T	ENSP00000304127:p.Leu27Met	1					KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M|MTA3_ENST00000405592.1_5'Flank	p.L27M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	1	2	3	2.183349	Q8TAE7	KCNG3_HUMAN		1	674	-			Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	1	1	hg19	c.79C>A	CCDS1809.1	1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268667	0.40095	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.69561	-0.41;-0.41	3.31	1.22	0.21188	3.31	1.22	0.21188	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.355130	0.27730	N	0.018099	T	0.59878	0.2226	M	0.76727	2.345	0.28499	N	0.914113	B;B	0.30763	0.294;0.115	B;B	0.29942	0.109;0.046	T	0.59343	-0.7472	10	0.87932	D	0	.	4.8286	0.13428	0.2219:0.0:0.6048:0.1734	.	27;27	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	M	27	ENSP00000304127:L27M;ENSP00000378424:L27M	ENSP00000304127:L27M	L	-	1	2	2	KCNG3	42574067	42574067	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	1.124000	0.31320	0.583000	0.29574	0.462000	0.41574	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_172344			20	20		40	40	0		1			0	0	14	0		9.999990e-01	0	0	0	0	0	0	20	40
HAAO	23498	broad.mit.edu	37	2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T	rs200729980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACCCTCTTCGATGTGATAGTC	0.597													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21701	0.0		0.0	False		,,,				2504	0.0					ENST00000294973.6	0.600000	0.200000	4.900000e-01	2.800000e-01	0.370000	0.389942	0.370000	0.360000																										0				11						c.(142-144)aTc>aAc		3-hydroxyanthranilate 3,4-dioxygenase							252.0	179.0	203.0					2																	43015685		2203	4300	6503	SO:0001583	missense	23498	1	121412	29				g.chr2:43015685A>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.143T>A	chr2.hg19:g.43015685A>T	ENSP00000294973:p.Ile48Asn	1						p.I48N	NM_012205.2	NP_036337.2	1	2	3	2.183349				2	198	-				Missense_Mutation	SNP	ENST00000294973.6	1	1	hg19	c.143T>A	CCDS33187.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	21.6	4.174278	0.78452	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	5.44	5.44	0.79542	Cupin, RmlC-type (1);	0.068157	0.56097	D	0.000034	T	0.66406	0.2786	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	.	48	P46952	3HAO_HUMAN	N	48;14	ENSP00000294973:I48N;ENSP00000412601:I14N	ENSP00000294973:I48N	I	-	2	0	0	HAAO	42869189	42869189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.065000	0.61736	0.533000	0.62120	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2	0	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.623475	1	0.170000				13	13		440	423	0		1	0		0	0	73	0		9.994174e-01	3.249909e-01	0	0	0	38	0	13	440
ZFP36L2	678	broad.mit.edu	37	2	43451467	43451467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	492					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667																																						ENST00000282388.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(1474-1476)tcC>tcT		ZFP36 ring finger protein-like 2							8.0	10.0	10.0					2																	43451467		2162	4260	6422	SO:0001819	synonymous_variant	678	0	0					g.chr2:43451467G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1476C>T	chr2.hg19:g.43451467G>A		1					THADA_ENST00000330266.7_Intron	p.S492S	NM_006887.4	NP_008818.3	1	2	3	2.183349	P47974	TISD_HUMAN		2	1769	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	1	1	hg19	c.1476C>T	CCDS1811.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	1	0	1		2	2	2	0		0	0	17		17	10	1	2.060000	-20.000000	1	0.170000	NM_006887			18	14		59	41	0		1	1		0	0	17	0		9.998580e-01	1	0	203	0	724	0	18	59
ZFP36L2	678	broad.mit.edu	37	2	43453409	43453409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43453409A>G	ENST00000282388.3	-	1	339	c.46T>C	c.(46-48)Tgc>Cgc	p.C16R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	16					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTACCTTGCACAAGAAGTCG	0.662																																						ENST00000282388.3	1.000000	0.450000	1	7.900000e-01	0.990000	0.924911	0.990000	1.000000																										0				15						c.(46-48)Tgc>Cgc		ZFP36 ring finger protein-like 2							45.0	40.0	42.0					2																	43453409		2190	4291	6481	SO:0001583	missense	678	0	0					g.chr2:43453409A>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.46T>C	chr2.hg19:g.43453409A>G	ENSP00000282388:p.Cys16Arg	1					THADA_ENST00000330266.7_Intron	p.C16R	NM_006887.4	NP_008818.3	1	2	3	2.183349	P47974	TISD_HUMAN		1	339	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	0	1	hg19	c.46T>C	CCDS1811.1	1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857535	0.51376	.	.	ENSG00000152518	ENST00000282388	T	0.44881	0.91	5.28	5.28	0.74379	5.28	5.28	0.74379	Tis11B-like protein, N-terminal (1);	0.082085	0.53938	D	0.000041	T	0.48572	0.1507	L	0.43152	1.355	0.80722	D	1	P	0.48998	0.918	P	0.52267	0.694	T	0.49725	-0.8909	10	0.59425	D	0.04	-9.141	14.8955	0.70642	1.0:0.0:0.0:0.0	.	16	P47974	TISD_HUMAN	R	16	ENSP00000282388:C16R	ENSP00000282388:C16R	C	-	1	0	0	ZFP36L2	43306913	43306913	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.274000	0.72587	1.998000	0.58463	0.533000	0.62120	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-9.356712	1	0.170000	NM_006887			4	4		38	38	0		1	1		0	0	15	0		8.936202e-01	9.999199e-01	0	73	0	266	0	4	38
THADA	63892	broad.mit.edu	37	2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1373										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)				TATCATAACAAATGGGACCAA	0.473																																						ENST00000405006.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(4117-4119)tTt>tGt		thyroid adenoma associated							135.0	137.0	136.0					2																	43625219		2018	4191	6209	SO:0001583	missense	63892	0	0					g.chr2:43625219A>C	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.4118T>G	chr2.hg19:g.43625219A>C	ENSP00000385995:p.Phe1373Cys	1					THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron	p.F1373C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	1	2	3	2.183349	Q6YHU6	THADA_HUMAN		29	4469	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	1	1	hg19	c.4118T>G	CCDS46268.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944723|3.944723	0.73672|0.73672	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.17|5.17	5.17|5.17	0.71159|0.71159	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72455|0.72455	0.3462|0.3462	M|M	0.70275|0.70275	2.135|2.135	0.47994|0.47994	D|D	0.999564|0.999564	D;D;D;D|.	0.76494|.	0.996;0.999;0.987;0.964|.	P;D;P;P|.	0.64506|.	0.889;0.926;0.717;0.541|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.39692|.	T|.	0.17|.	.|.	14.0046|14.0046	0.64456|0.64456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1052;1300;1054;1373|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	C|V	1373;1300;1054;1373|613	ENSP00000386088:F1373C;ENSP00000416048:F1054C;ENSP00000385995:F1373C|.	ENSP00000349464:F1300C|.	F|L	-|-	2|1	0|2	0|2	THADA|THADA	43478723|43478723	43478723|43478723	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	5.562000|5.562000	0.67346|0.67346	1.943000|1.943000	0.56356|0.56356	0.528000|0.528000	0.53228|0.53228	TTT|TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_022065			134	134		397	389	1		1	1		0	0	102	0		1	9.998198e-01	0	10	0	30	0	134	397
THADA	63892	broad.mit.edu	37	2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000330266.7_Missense_Mutation_p.L760M|THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1050										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)				CAACATACCAGCACCATCTGC	0.403																																						ENST00000405006.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3148-3150)Ctg>Atg		thyroid adenoma associated							245.0	244.0	244.0					2																	43768414		2017	4188	6205	SO:0001583	missense	63892	0	0					g.chr2:43768414G>T	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.3148C>A	chr2.hg19:g.43768414G>T	ENSP00000385995:p.Leu1050Met	1					THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	p.L1050M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	1	2	3	2.183349	Q6YHU6	THADA_HUMAN		21	3499	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	1	1	hg19	c.3148C>A	CCDS46268.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763218|3.763218	0.69763|0.69763	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47	5.67|5.67	5.67|5.67	0.87782|0.87782	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.72277	.|0.3440	M|M	0.62154|0.62154	1.92|1.92	0.51012|0.51012	D|D	0.999901|0.999901	.|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	.|0.73544	.|-0.3949	.|10	.|0.87932	.|D	.|0	.|.	19.7706|19.7706	0.96363|0.96363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|760;1051;760;1050	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	X|M	363|760;1050;1051;760;1050	.|ENSP00000331105:L760M;ENSP00000386088:L1050M;ENSP00000416048:L760M;ENSP00000385995:L1050M	.|ENSP00000331105:L760M	C|L	-|-	3|1	2|2	2|2	THADA|THADA	43621918|43621918	43621918|43621918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.992000|3.992000	0.56980|0.56980	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGC|CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1		2	2	2	0		0	0	214		214	213	1	2.060000	-20.000000	1	0.170000	NM_022065			148	146		974	952	1		1	1		0	0	214	0		1	9.886613e-01	0	11	0	36	0	148	974
THADA	63892	broad.mit.edu	37	2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T	rs369020610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000405006.4	-	11	2044	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000403856.1_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	565										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)				AGAATCTTTACCATGTACTGT	0.299																																						ENST00000405006.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				66						c.(1693-1695)Gta>Ata		thyroid adenoma associated		C	ILE/VAL,ILE/VAL	1,3611		0,1,1805	28.0	27.0	27.0		1693,1693	5.9	1.0	2		27	0,8146		0,0,4073	no	missense,missense	THADA	NM_001083953.1,NM_022065.4	29,29	0,1,5878	TT,TC,CC		0.0,0.0277,0.0085	benign,benign	565/1954,565/1954	43801511	1,11757	1806	4073	5879	SO:0001583	missense	63892	7	120698	33				g.chr2:43801511C>T	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.1693G>A	chr2.hg19:g.43801511C>T	ENSP00000385995:p.Val565Ile	1					THADA_ENST00000403856.1_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I	p.V565I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	1	2	3	2.183349	Q6YHU6	THADA_HUMAN		11	2044	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	1	1	hg19	c.1693G>A	CCDS46268.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870952	0.33069	2.77E-4	0.0	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	1.59;1.59;1.59;1.59;-0.1;-0.1;1.59	5.94	5.94	0.96194	5.94	5.94	0.96194	Armadillo-type fold (1);	0.138436	0.48767	D	0.000176	T	0.44265	0.1285	L	0.39397	1.21	0.34512	D	0.707249	P;B;P;B;P	0.38020	0.597;0.319;0.566;0.431;0.615	B;B;B;B;B	0.33568	0.166;0.069;0.138;0.065;0.1	T	0.51888	-0.8648	10	0.12430	T	0.62	-0.738	5.7072	0.17915	0.1707:0.6832:0.0:0.1461	.	565;565;565;275;565	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	275;565;565;275;565;565;565;565	ENSP00000331105:V275I;ENSP00000386088:V565I;ENSP00000416048:V275I;ENSP00000385995:V565I;ENSP00000385441:V565I;ENSP00000384266:V565I;ENSP00000385469:V565I	ENSP00000331105:V275I	V	-	1	0	0	THADA	43655015	43655015	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.380000	0.52448	2.816000	0.96949	0.561000	0.74099	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-12.075370	1	0.170000	NM_022065			14	14		54	52	1		1	1		0	0	20	0		9.998295e-01	9.990071e-01	0	21	0	30	0	14	54
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000405006.4	-	9	1095	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000403856.1_Silent_p.Q248Q|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248										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)				CAGATGTGCTCTGTACAGTCT	0.358																																						ENST00000405006.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(742-744)caG>caA		thyroid adenoma associated							67.0	67.0	67.0					2																	43805724		1835	4094	5929	SO:0001819	synonymous_variant	63892	0	0					g.chr2:43805724C>T	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.744G>A	chr2.hg19:g.43805724C>T		1					THADA_ENST00000403856.1_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000330266.7_5'Flank	p.Q248Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	1	2	3	2.183349	Q6YHU6	THADA_HUMAN		9	1095	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	1	1	hg19	c.744G>A	CCDS46268.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.310962	1	0.170000	NM_022065			45	45		175	170	1		1	1		0	0	32	0		1	9.430170e-01	0	10	0	11	0	45	175
THADA	63892	broad.mit.edu	37	2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000405006.4	-	5	713	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000403856.1_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	121										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)				TTCCTGAAGACGAGAAGTAAA	0.348																																						ENST00000405006.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998723	0.990000	1.000000																										0				66						c.(361-363)cGt>cAt		thyroid adenoma associated							61.0	59.0	60.0					2																	43814082		1818	4061	5879	SO:0001583	missense	63892	10	120774	37				g.chr2:43814082C>T	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.362G>A	chr2.hg19:g.43814082C>T	ENSP00000385995:p.Arg121His	1					THADA_ENST00000403856.1_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H	p.R121H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	1	2	3	2.183349	Q6YHU6	THADA_HUMAN		5	713	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	1	1	hg19	c.362G>A	CCDS46268.1	1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107737	0.37242	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64803	2.95;2.95;-0.12;-0.12;1.5	4.62	3.68	0.42216	4.62	3.68	0.42216	.	0.172595	0.50627	N	0.000101	T	0.44644	0.1303	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.15473	0.013;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.34782	T	0.22	-7.7899	9.4071	0.38469	0.0:0.8861:0.0:0.1139	.	121;121;121;121	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	H	121	ENSP00000386088:R121H;ENSP00000385995:R121H;ENSP00000385441:R121H;ENSP00000384266:R121H;ENSP00000385469:R121H	ENSP00000349464:R121H	R	-	2	0	0	THADA	43667586	43667586	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.857000	0.39399	1.164000	0.42652	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-11.249500	1	0.170000	NM_022065			22	22		156	151	1		1	1		0	0	37	0		9.999989e-01	9.784196e-01	0	8	0	39	0	22	156
PLEKHH2	130271	broad.mit.edu	37	2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	165					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308																																						ENST00000282406.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(493-495)Aaa>Gaa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							49.0	48.0	48.0					2																	43922354		2198	4295	6493	SO:0001583	missense	130271	0	0					g.chr2:43922354A>G	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.493A>G	chr2.hg19:g.43922354A>G	ENSP00000282406:p.Lys165Glu	1						p.K165E	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		6	603	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.493A>G	CCDS1812.1	1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863972	0.71949	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.109197	0.64402	D	0.000007	T	0.57242	0.2040	L	0.43152	1.355	0.40111	D	0.976488	P;P	0.47034	0.524;0.889	B;P	0.51170	0.095;0.661	T	0.59418	-0.7458	10	0.48119	T	0.1	-20.5962	15.7573	0.78043	1.0:0.0:0.0:0.0	.	165;165	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	E	165	ENSP00000282406:K165E	ENSP00000282406:K165E	K	+	1	0	0	PLEKHH2	43775858	43775858	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	5.168000	0.64978	2.120000	0.65058	0.477000	0.44152	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-17.463960	1	0.170000	NM_172069			19	19		48	45	1		1	1		0	0	17	0		9.999956e-01	9.270453e-01	0	5	0	9	0	19	48
PLEKHH2	130271	broad.mit.edu	37	2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	180					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383																																						ENST00000282406.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.993475	0.990000	1.000000																										0				56						c.(538-540)Cta>Ata		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							135.0	137.0	137.0					2																	43924345		2203	4300	6503	SO:0001583	missense	130271	0	0					g.chr2:43924345C>A	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.538C>A	chr2.hg19:g.43924345C>A	ENSP00000282406:p.Leu180Ile	1						p.L180I	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		7	648	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.538C>A	CCDS1812.1	1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247779	0.10130	.	.	ENSG00000152527	ENST00000282406	T	0.52057	0.68	5.04	1.11	0.20524	5.04	1.11	0.20524	.	0.772541	0.12600	N	0.454790	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.18871	0.0;0.023	T	0.22521	-1.0214	10	0.18276	T	0.48	0.731	4.2415	0.10650	0.1307:0.6025:0.1261:0.1407	.	180;180	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	180	ENSP00000282406:L180I	ENSP00000282406:L180I	L	+	1	2	2	PLEKHH2	43777849	43777849	0.034000	0.19679	0.001000	0.08648	0.697000	0.40408	2.367000	0.44213	-0.083000	0.12618	-0.312000	0.09012	CTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-17.037950	1	0.170000	NM_172069			64	63		642	633	1		1	0		0	0	126	0		1	3.031319e-01	0	1	0	11	0	64	642
PLEKHH2	130271	broad.mit.edu	37	2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G	rs577718828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	774	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383													A|||	2	0.000399361	0.0	0.0	5008	,	,		20997	0.0		0.0	False		,,,				2504	0.002					ENST00000282406.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2320-2322)Aca>Gca		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							158.0	148.0	151.0					2																	43939382		2203	4300	6503	SO:0001583	missense	130271	12	121412	42				g.chr2:43939382A>G	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.2320A>G	chr2.hg19:g.43939382A>G	ENSP00000282406:p.Thr774Ala	1						p.T774A	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		15	2430	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.2320A>G	CCDS1812.1	1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897967	0.72639	.	.	ENSG00000152527	ENST00000282406	T	0.15017	2.46	5.16	5.16	0.70880	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110415	0.64402	D	0.000007	T	0.34687	0.0906	M	0.83692	2.655	0.44201	D	0.997028	P;B	0.46327	0.876;0.4	P;B	0.49252	0.604;0.173	T	0.28554	-1.0040	10	0.56958	D	0.05	-20.575	14.981	0.71311	1.0:0.0:0.0:0.0	.	774;211	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	A	774	ENSP00000282406:T774A	ENSP00000282406:T774A	T	+	1	0	0	PLEKHH2	43792886	43792886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	1.935000	0.56089	0.377000	0.23210	ACA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_172069			98	96		492	483	1		1	1		0	0	101	0		1	9.118923e-01	0	6	0	17	0	98	492
PLEKHH2	130271	broad.mit.edu	37	2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	888	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398																																						ENST00000282406.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2662-2664)Gtt>Att		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2		G	ILE/VAL	0,4406		0,0,2203	115.0	109.0	111.0		2662	4.7	0.0	2	dbSNP_134	111	2,8598	1.2+/-3.3	0,2,4298	no	missense	PLEKHH2	NM_172069.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	888/1494	43953531	2,13004	2203	4300	6503	SO:0001583	missense	130271	7	121412	42				g.chr2:43953531G>A	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.2662G>A	chr2.hg19:g.43953531G>A	ENSP00000282406:p.Val888Ile	1						p.V888I	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		17	2772	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.2662G>A	CCDS1812.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764779	0.31228	0.0	2.33E-4	ENSG00000152527	ENST00000282406	T	0.22539	1.95	5.57	4.68	0.58851	5.57	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.253763	0.38959	N	0.001506	T	0.22551	0.0544	L	0.53617	1.68	0.21802	N	0.99954	B;B	0.19935	0.04;0.017	B;B	0.20184	0.028;0.004	T	0.11817	-1.0572	10	0.38643	T	0.18	-6.5994	13.539	0.61662	0.0757:0.0:0.9243:0.0	.	888;325	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	I	888	ENSP00000282406:V888I	ENSP00000282406:V888I	V	+	1	0	0	PLEKHH2	43807035	43807035	0.998000	0.40836	0.020000	0.16555	0.472000	0.32918	4.963000	0.63694	1.307000	0.44944	0.650000	0.86243	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_172069			68	64		291	288	1		1	1		0	0	54	0		1	8.055416e-01	0	3	0	12	0	68	291
PLEKHH2	130271	broad.mit.edu	37	2	43965632	43965632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1032	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363																																						ENST00000282406.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3094-3096)caG>caA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							80.0	84.0	83.0					2																	43965632		2203	4300	6503	SO:0001819	synonymous_variant	130271	0	0					g.chr2:43965632G>A	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.3096G>A	chr2.hg19:g.43965632G>A		1						p.Q1032Q	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		20	3206	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	1	1	hg19	c.3096G>A	CCDS1812.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_172069			131	130		337	332	1		1	1		0	0	84	0		1	9.698489e-01	0	7	0	10	0	131	337
PLEKHH2	130271	broad.mit.edu	37	2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1124	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGTATACCTGTGCACTTC	0.413																																						ENST00000282406.4	0.650000	0.230000	5.400000e-01	3.100000e-01	0.410000	0.431931	0.410000	0.400000																										0				56						c.(3370-3372)cCt>cTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							163.0	147.0	152.0					2																	43970029		2203	4300	6503	SO:0001583	missense	130271	0	0					g.chr2:43970029C>T	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.3371C>T	chr2.hg19:g.43970029C>T	ENSP00000282406:p.Pro1124Leu	1						p.P1124L	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		22	3481	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.3371C>T	CCDS1812.1	0	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805841	0.90623	.	.	ENSG00000152527	ENST00000282406	T	0.74526	-0.85	5.3	5.3	0.74995	5.3	5.3	0.74995	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89272	0.3605	10	0.72032	D	0.01	-20.4487	18.9515	0.92643	0.0:1.0:0.0:0.0	.	1124	Q8IVE3	PKHH2_HUMAN	L	1124	ENSP00000282406:P1124L	ENSP00000282406:P1124L	P	+	2	0	0	PLEKHH2	43823533	43823533	1.000000	0.71417	0.872000	0.34217	0.872000	0.50106	7.487000	0.81328	2.459000	0.83118	0.563000	0.77884	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.486837	0	0.170000	NM_172069			14	14		424	420	0		1	1		0	0	90	0		9.997470e-01	2.355907e-01	0	2	0	25	0	14	424
PLEKHH2	130271	broad.mit.edu	37	2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373																																						ENST00000282406.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3634-3636)cGt>cAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							70.0	64.0	66.0					2																	43973084		2203	4300	6503	SO:0001583	missense	130271	6	121410	34				g.chr2:43973084G>A	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.3635G>A	chr2.hg19:g.43973084G>A	ENSP00000282406:p.Arg1212His	1						p.R1212H	NM_172069.3	NP_742066.2	1	2	3	2.183349	Q8IVE3	PKHH2_HUMAN		24	3745	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	1	1	hg19	c.3635G>A	CCDS1812.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102805	0.76983	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.74	5.74	0.90152	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.052470	0.85682	D	0.000000	T	0.74107	0.3673	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.75345	-0.3350	10	0.66056	D	0.02	-19.9695	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1212	Q8IVE3	PKHH2_HUMAN	H	1212	ENSP00000282406:R1212H	ENSP00000282406:R1212H	R	+	2	0	0	PLEKHH2	43826588	43826588	1.000000	0.71417	0.933000	0.37362	0.688000	0.40055	5.197000	0.65141	2.716000	0.92895	0.557000	0.71058	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.987070	1	0.170000	NM_172069			34	34		137	136	1		1	1		0	0	37	0		1	9.716463e-01	0	3	0	23	0	34	137
ABCG5	64240	broad.mit.edu	37	2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000260645.1	-	8	1160	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Missense_Mutation_p.N170Y	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	341					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)			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)	CTTTCAATATTCTTCAAAGTT	0.388																																						ENST00000260645.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1021-1023)Aat>Tat		ATP-binding cassette, sub-family G (WHITE), member 5	Ezetimibe(DB00973)						122.0	130.0	127.0					2																	44051455		2203	4300	6503	SO:0001583	missense	64240	0	0					g.chr2:44051455T>A	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.1021A>T	chr2.hg19:g.44051455T>A	ENSP00000260645:p.Asn341Tyr	1					ABCG5_ENST00000405322.1_Missense_Mutation_p.N170Y|ABCG5_ENST00000543989.1_Intron	p.N341Y	NM_022436.2	NP_071881.1	1	2	3	2.183349	Q9H222	ABCG5_HUMAN		8	1160	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	1	1	hg19	c.1021A>T	CCDS1814.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646928	0.47258	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;T	0.90563	-2.69;-1.3	5.61	3.28	0.37604	5.61	3.28	0.37604	.	3.690330	0.00597	N	0.000373	D	0.85492	0.5709	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.845	B;B	0.42062	0.374;0.36	T	0.73107	-0.4087	10	0.62326	D	0.03	.	8.2634	0.31799	0.0:0.2363:0.0:0.7637	.	170;341	E7EX35;Q9H222	.;ABCG5_HUMAN	Y	341;170	ENSP00000260645:N341Y;ENSP00000384513:N170Y	ENSP00000260645:N341Y	N	-	1	0	0	ABCG5	43904959	43904959	0.060000	0.20803	0.738000	0.30950	0.601000	0.36947	0.565000	0.23578	0.520000	0.28426	0.533000	0.62120	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_022436			154	153		698	689	1		1	0		0	0	103	0		1	2.256471e-01	0	0	0	5	0	154	698
LRPPRC	10128	broad.mit.edu	37	2	44121724	44121724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1315	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)			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)				CTTCCTTTTCATTTAATTCAG	0.269																																						ENST00000260665.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				41						c.(3943-3945)aaT>aaC		leucine-rich pentatricopeptide repeat containing							70.0	75.0	73.0					2																	44121724		2202	4282	6484	SO:0001819	synonymous_variant	10128	0	0					g.chr2:44121724A>G	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.3945T>C	chr2.hg19:g.44121724A>G		1					RNU6-1048P_ENST00000364054.1_RNA	p.N1315N	NM_133259.3	NP_573566.2	1	2	3	2.183349	P42704	LPPRC_HUMAN		36	4002	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	1	1	hg19	c.3945T>C	CCDS33189.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-18.997790	1	0.170000	NM_133259			44	44		295	288	1		1	1		0	0	61	0		1	1	0	87	0	243	0	44	295
LRPPRC	10128	broad.mit.edu	37	2	44132886	44132886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1103					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)			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)				TGGCAGCATCGTTCAGTGTGA	0.443																																						ENST00000260665.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3307-3309)aaC>aaT		leucine-rich pentatricopeptide repeat containing							139.0	117.0	125.0					2																	44132886		2203	4300	6503	SO:0001819	synonymous_variant	10128	0	0					g.chr2:44132886G>A	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.3309C>T	chr2.hg19:g.44132886G>A		1						p.N1103N	NM_133259.3	NP_573566.2	1	2	3	2.183349	P42704	LPPRC_HUMAN		31	3366	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	1	1	hg19	c.3309C>T	CCDS33189.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_133259			112	112		224	220	1		1	1		0	0	69	0		1	1	0	149	0	196	0	112	224
SLC3A1	6519	broad.mit.edu	37	2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000260649.6	+	1	144	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	23					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517																																						ENST00000260649.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(67-69)gGg>gTg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						64.0	62.0	63.0					2																	44502742		2203	4300	6503	SO:0001583	missense	6519	0	0					g.chr2:44502742G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.68G>T	chr2.hg19:g.44502742G>T	ENSP00000260649:p.Gly23Val	1					SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V	p.G23V	NM_000341.3	NP_000332.2	1	2	3	2.183349	Q07837	SLC31_HUMAN		1	144	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	1	1	hg19	c.68G>T	CCDS1819.1	1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078546	0.55753	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99719	-5.95;-6.52;-6.03;-6.41;-6.51	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.114768	0.64402	D	0.000014	D	0.99658	0.9873	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97981	1.0349	10	0.87932	D	0	-20.3066	19.1557	0.93509	0.0:0.0:1.0:0.0	.	23;23;23;23;23	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	23	ENSP00000260649:G23V;ENSP00000387308:G23V;ENSP00000387337:G23V;ENSP00000386954:G23V;ENSP00000386620:G23V	ENSP00000260649:G23V	G	+	2	0	0	SLC3A1	44356246	44356246	1.000000	0.71417	0.967000	0.41034	0.147000	0.21601	5.153000	0.64888	2.517000	0.84864	0.462000	0.41574	GGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_000341			30	30		123	120	1		1	1		0	0	36	0		1	9.999994e-01	0	2	0	100	0	30	123
SLC3A1	6519	broad.mit.edu	37	2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000260649.6	+	3	704	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	210					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348																																						ENST00000260649.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(628-630)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						77.0	75.0	76.0					2																	44508543		2203	4300	6503	SO:0001583	missense	6519	1	121412	26				g.chr2:44508543G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.628G>A	chr2.hg19:g.44508543G>A	ENSP00000260649:p.Asp210Asn	1					SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N	p.D210N	NM_000341.3	NP_000332.2	1	2	3	2.183349	Q07837	SLC31_HUMAN		3	704	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	1	1	hg19	c.628G>A	CCDS1819.1	1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907315	0.72868	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99960	-9.19;-9.19;-7.36;-9.19;-9.19	4.19	4.19	0.49359	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054621	0.64402	N	0.000001	D	0.99971	0.9990	H	0.98701	4.305	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;0.999;1.0;0.999;0.998	D	0.96864	0.9634	10	0.62326	D	0.03	-12.8222	17.147	0.86768	0.0:0.0:1.0:0.0	.	210;210;210;210;210	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	210;210;146;210;210;210;210	ENSP00000260649:D210N;ENSP00000387308:D210N;ENSP00000387337:D210N;ENSP00000386954:D210N;ENSP00000386620:D210N	ENSP00000260649:D210N	D	+	1	0	0	SLC3A1	44362047	44362047	1.000000	0.71417	0.952000	0.39060	0.467000	0.32768	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.765114	1	0.170000	NM_000341			65	61		237	229	1		1	0		0	0	64	0		1	9.999999e-01	0	1	0	88	0	65	237
SLC3A1	6519	broad.mit.edu	37	2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000260649.6	+	10	2088	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	671					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418																																						ENST00000260649.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				26						c.(2011-2013)cGa>cAa		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						87.0	73.0	78.0					2																	44547732		2203	4300	6503	SO:0001583	missense	6519	3	121410	35				g.chr2:44547732G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2012G>A	chr2.hg19:g.44547732G>A	ENSP00000260649:p.Arg671Gln	1					SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	p.R671Q	NM_000341.3	NP_000332.2	1	2	3	2.183349	Q07837	SLC31_HUMAN		10	2088	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	1	1	hg19	c.2012G>A	CCDS1819.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347062	0.82022	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99129	-5.46;-4.86;-4.55	5.99	0.529	0.17095	5.99	0.529	0.17095	.	0.164236	0.52532	N	0.000062	D	0.96772	0.8946	M	0.68317	2.08	0.58432	D	0.999999	P	0.50066	0.931	B	0.36378	0.223	D	0.93093	0.6501	10	0.66056	D	0.02	-4.4218	8.1944	0.31387	0.6839:0.0:0.3161:0.0	.	671	Q07837	SLC31_HUMAN	Q	671;607;393;302	ENSP00000260649:R671Q;ENSP00000386709:R393Q;ENSP00000386677:R302Q	ENSP00000260649:R671Q	R	+	2	0	0	SLC3A1	44401236	44401236	1.000000	0.71417	0.010000	0.14722	0.823000	0.46562	3.321000	0.51999	0.146000	0.19002	-0.768000	0.03414	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.966975	1	0.170000	NM_000341			41	41		272	270	0		1	1		0	0	56	0		1	1	0	38	0	276	0	41	272
SIX3	6496	broad.mit.edu	37	2	45169609	45169609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169609C>T	ENST00000260653.3	+	1	708	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	122					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682																																						ENST00000260653.3	0.800000	0.170000	6.100000e-01	2.800000e-01	0.420000	0.452403	0.420000	0.390000																										0				11						c.(364-366)tgC>tgT		SIX homeobox 3							11.0	14.0	13.0					2																	45169609		2027	4066	6093	SO:0001819	synonymous_variant	6496	0	0					g.chr2:45169609C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.366C>T	chr2.hg19:g.45169609C>T		1					SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	p.C122C	NM_005413.3	NP_005404.1	1	2	3	2.183349	O95343	SIX3_HUMAN		1	708	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	0	1	hg19	c.366C>T	CCDS1821.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	0	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-8.336727	1	0.170000	NM_005413			6	6		186	180	0		1			0	0	29	0		9.621663e-01	0	0	0	0	0	0	6	186
SIX3	6496	broad.mit.edu	37	2	45169644	45169644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169644C>T	ENST00000260653.3	+	1	743	c.401C>T	c.(400-402)gCg>gTg	p.A134V	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	134					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCCTGCGCGCGCGCGCCGTG	0.667																																						ENST00000260653.3	0.960000	0.240000	7.500000e-01	3.600000e-01	0.530000	0.560421	0.530000	1.000000																										0				11						c.(400-402)gCg>gTg		SIX homeobox 3							12.0	15.0	14.0					2																	45169644		2072	4118	6190	SO:0001583	missense	6496	0	0					g.chr2:45169644C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.401C>T	chr2.hg19:g.45169644C>T	ENSP00000260653:p.Ala134Val	1					SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	p.A134V	NM_005413.3	NP_005404.1	1	2	3	2.183349	O95343	SIX3_HUMAN		1	743	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	0	1	hg19	c.401C>T	CCDS1821.1	0	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548820	0.65311	.	.	ENSG00000138083	ENST00000260653	D	0.97209	-4.29	3.03	3.03	0.35002	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	D	0.98061	0.9361	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	D	0.98487	1.0608	10	0.62326	D	0.03	.	13.7481	0.62887	0.0:1.0:0.0:0.0	.	134	O95343	SIX3_HUMAN	V	134	ENSP00000260653:A134V	ENSP00000260653:A134V	A	+	2	0	0	SIX3	45023148	45023148	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.354000	0.79424	1.509000	0.48786	0.484000	0.47621	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	0	0	0		2	2	2	0		0	0	25		25	26	1	2.060000	-9.785880	1	0.170000	NM_005413			7	7		169	173	0		1			0	0	25	0		9.827482e-01	0	0	0	0	0	0	7	169
SRBD1	55133	broad.mit.edu	37	2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	754					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			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)			TTTGGGCCCAGCCCTTTCACT	0.423																																						ENST00000263736.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2260-2262)Ctg>Atg		S1 RNA binding domain 1							264.0	172.0	203.0					2																	45645577		2203	4300	6503	SO:0001583	missense	55133	0	0					g.chr2:45645577G>T	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.2260C>A	chr2.hg19:g.45645577G>T	ENSP00000263736:p.Leu754Met	1					SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M	p.L754M	NM_018079.4	NP_060549.4	1	2	3	2.183349	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)	18	2322	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	1	1	hg19	c.2260C>A	CCDS1823.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337017	0.60963	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.36340	1.57;1.26	5.96	5.08	0.68730	5.96	5.08	0.68730	Tex RuvX-like domain (1);	0.200635	0.42964	N	0.000623	T	0.46776	0.1410	L	0.49699	1.58	0.40511	D	0.98073	D	0.53312	0.959	P	0.56960	0.81	T	0.50224	-0.8853	10	0.87932	D	0	.	10.3659	0.44024	0.0739:0.0:0.7898:0.1363	.	754	Q8N5C6	SRBD1_HUMAN	M	754;273	ENSP00000263736:L754M;ENSP00000441272:L273M	ENSP00000263736:L754M	L	-	1	2	2	SRBD1	45499081	45499081	1.000000	0.71417	0.807000	0.32361	0.798000	0.45092	2.663000	0.46774	1.520000	0.48965	-0.195000	0.12781	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_018079			181	178		455	445	1		1	1		0	0	106	0		1	9.999996e-01	0	13	0	43	0	181	455
SRBD1	55133	broad.mit.edu	37	2	45715393	45715393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45715393T>G	ENST00000263736.4	-	15	2014	c.1952A>C	c.(1951-1953)aAt>aCt	p.N651T	SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	651					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			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)			ACTTCTCAAATTAGGGTCCAG	0.413																																						ENST00000263736.4	0.810000	0.270000	6.600000e-01	3.700000e-01	0.500000	0.522807	0.500000	0.480000																										0				49						c.(1951-1953)aAt>aCt		S1 RNA binding domain 1							124.0	122.0	122.0					2																	45715393		2203	4300	6503	SO:0001583	missense	55133	0	0					g.chr2:45715393T>G	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.1952A>C	chr2.hg19:g.45715393T>G	ENSP00000263736:p.Asn651Thr	1					SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	p.N651T	NM_018079.4	NP_060549.4	1	2	3	2.183349	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)	15	2014	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	0	1	hg19	c.1952A>C	CCDS1823.1	0	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950353	0.73787	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.28454	2.03;1.61	4.92	4.92	0.64577	4.92	4.92	0.64577	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.03281	-0.365	0.47737	D	0.999508	D	0.76494	0.999	D	0.66602	0.945	T	0.35101	-0.9802	10	0.45353	T	0.12	.	12.1702	0.54155	0.0:0.0:0.0:1.0	.	651	Q8N5C6	SRBD1_HUMAN	T	651;170	ENSP00000263736:N651T;ENSP00000441272:N170T	ENSP00000263736:N651T	N	-	2	0	0	SRBD1	45568897	45568897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.617000	0.74210	2.074000	0.62210	0.482000	0.46254	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-13.312370	1	0.170000	NM_018079			12	12		300	295	0		1	1	0	0	0	64	0		9.990760e-01	5.982695e-01	0	2	0	48	1	12	300
PRKCE	5581	broad.mit.edu	37	2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000306156.3	+	9	1469	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	381					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)		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)	GCAGCATCGTCTCCTGATGGC	0.542																																						ENST00000306156.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									MBOAT2/PRKCE(2)	0				34						c.(1141-1143)tCt>tTt		protein kinase C, epsilon	Tamoxifen(DB00675)						54.0	57.0	56.0					2																	46234679		1833	3846	5679	SO:0001583	missense	5581	0	0					g.chr2:46234679C>T		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.1142C>T	chr2.hg19:g.46234679C>T	ENSP00000306124:p.Ser381Phe	1					PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	p.S381F	NM_005400.2	NP_005391.1	1	2	3	2.183349	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)	9	1469	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	1	1	hg19	c.1142C>T	CCDS1824.1	1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901205	0.17760	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69926	-0.44;0.28	5.53	3.7	0.42460	5.53	3.7	0.42460	.	0.437979	0.26518	N	0.023936	T	0.46073	0.1374	N	0.08118	0	0.24205	N	0.995496	B	0.32010	0.351	B	0.25506	0.061	T	0.38929	-0.9638	10	0.51188	T	0.08	.	16.0086	0.80380	0.0:0.7317:0.2683:0.0	.	381	Q02156	KPCE_HUMAN	F	381;104	ENSP00000306124:S381F;ENSP00000378341:S104F	ENSP00000306124:S381F	S	+	2	0	0	PRKCE	46088183	46088183	0.977000	0.34250	0.006000	0.13384	0.007000	0.05969	3.915000	0.56409	0.838000	0.34948	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				108	106		311	306	1		1	1		0	0	78	0		1	9.976121e-01	0	4	0	25	0	108	311
EPAS1	2034	broad.mit.edu	37	2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	392					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562																																						ENST00000263734.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1174-1176)aaG>aaT		endothelial PAS domain protein 1							88.0	93.0	91.0					2																	46603819		2203	4300	6503	SO:0001583	missense	2034	0	0					g.chr2:46603819G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1176G>T	chr2.hg19:g.46603819G>T	ENSP00000263734:p.Lys392Asn	1						p.K392N	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	9	1686	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	1	1	hg19	c.1176G>T	CCDS1825.1	1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586851	0.46110	.	.	ENSG00000116016	ENST00000263734	T	0.53640	0.61	5.38	2.57	0.30868	5.38	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.82193	2.58	0.49213	D	0.999769	B	0.21225	0.053	B	0.21917	0.037	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.7763	0.34765	0.3083:0.0:0.6917:0.0	.	392	Q99814	EPAS1_HUMAN	N	392	ENSP00000263734:K392N	ENSP00000263734:K392N	K	+	3	2	2	EPAS1	46457323	46457323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.883000	0.28200	0.628000	0.30357	0.462000	0.41574	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_001430			107	106		772	767	1		1	1		0	0	127	0		1	1	0	27	0	232	0	107	772
EPAS1	2034	broad.mit.edu	37	2	46605085	46605085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	ENST00000263734.3	+	10	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	434					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTGCCCCCGAGCCAGCCAT	0.662																																						ENST00000263734.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999878	0.990000	1.000000																										0				39						c.(1300-1302)ccG>ccA		endothelial PAS domain protein 1							21.0	19.0	20.0					2																	46605085		2165	4263	6428	SO:0001819	synonymous_variant	2034	2	116936	29				g.chr2:46605085G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1302G>A	chr2.hg19:g.46605085G>A		1						p.P434P	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	10	1812	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	0	1	hg19	c.1302G>A	CCDS1825.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	0	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-10.266230	1	0.170000	NM_001430			8	8		18	18	0		1	1		0	0	10	0		9.933180e-01	1	0	52	0	164	0	8	18
EPAS1	2034	broad.mit.edu	37	2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	493					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517																																						ENST00000263734.3	0.950000	0.420000	8.100000e-01	5.300000e-01	0.650000	0.673426	0.650000	0.660000																										0				39						c.(1477-1479)gAt>gGt		endothelial PAS domain protein 1							141.0	133.0	136.0					2																	46605830		2203	4300	6503	SO:0001583	missense	2034	0	0					g.chr2:46605830A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1478A>G	chr2.hg19:g.46605830A>G	ENSP00000263734:p.Asp493Gly	1						p.D493G	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	11	1988	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	1	1	hg19	c.1478A>G	CCDS1825.1	0	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512374	0.27036	.	.	ENSG00000116016	ENST00000263734	T	0.52526	0.66	5.54	1.95	0.26073	5.54	1.95	0.26073	.	0.700275	0.14954	N	0.288729	T	0.37461	0.1004	L	0.40543	1.245	0.43540	D	0.995834	B	0.09022	0.002	B	0.10450	0.005	T	0.21518	-1.0243	10	0.66056	D	0.02	.	8.9887	0.36010	0.7974:0.0:0.2026:0.0	.	493	Q99814	EPAS1_HUMAN	G	493	ENSP00000263734:D493G	ENSP00000263734:D493G	D	+	2	0	0	EPAS1	46459334	46459334	1.000000	0.71417	0.007000	0.13788	0.082000	0.17680	2.229000	0.42990	0.410000	0.25675	0.528000	0.53228	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-19.998740	1	0.170000	NM_001430			21	21		390	383	0		1	1		0	0	82	0		9.999973e-01	9.946839e-01	0	4	0	152	0	21	390
EPAS1	2034	broad.mit.edu	37	2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	664					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602																																						ENST00000263734.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1990-1992)Gca>Tca		endothelial PAS domain protein 1							74.0	85.0	81.0					2																	46607801		2197	4287	6484	SO:0001583	missense	2034	0	0					g.chr2:46607801G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1990G>T	chr2.hg19:g.46607801G>T	ENSP00000263734:p.Ala664Ser	1						p.A664S	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	12	2500	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	1	1	hg19	c.1990G>T	CCDS1825.1	1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419044	0.04766	.	.	ENSG00000116016	ENST00000263734	T	0.44881	0.91	4.69	-2.69	0.06022	4.69	-2.69	0.06022	.	0.753997	0.11622	N	0.545664	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.02654	T	1	.	5.9118	0.19033	0.478:0.2604:0.2616:0.0	.	664	Q99814	EPAS1_HUMAN	S	664	ENSP00000263734:A664S	ENSP00000263734:A664S	A	+	1	0	0	EPAS1	46461305	46461305	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.243000	0.08915	-0.482000	0.06782	0.585000	0.79938	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_001430			128	127		706	694	1		1	1		0	0	144	0		1	1	0	34	0	215	0	128	706
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582																																						ENST00000263734.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2050-2052)Gca>Aca		endothelial PAS domain protein 1							48.0	49.0	49.0					2																	46608739		2203	4300	6503	SO:0001583	missense	2034	0	0					g.chr2:46608739G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2050G>A	chr2.hg19:g.46608739G>A	ENSP00000263734:p.Ala684Thr	1						p.A684T	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	13	2560	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	1	1	hg19	c.2050G>A	CCDS1825.1	1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396695	0.25205	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.19	4.31	0.51392	5.19	4.31	0.51392	.	1.793810	0.02489	N	0.089240	T	0.27832	0.0685	N	0.08118	0	0.09310	N	0.999996	B	0.26258	0.145	B	0.21546	0.035	T	0.28933	-1.0028	10	0.22706	T	0.39	.	3.7445	0.08542	0.09:0.1778:0.5723:0.1599	.	684	Q99814	EPAS1_HUMAN	T	684	ENSP00000263734:A684T	ENSP00000263734:A684T	A	+	1	0	0	EPAS1	46462243	46462243	0.988000	0.35896	1.000000	0.80357	0.889000	0.51656	0.675000	0.25232	2.416000	0.81992	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-5.383052	1	0.170000	NM_001430			85	81		249	243	1		1	1		0	0	58	0		1	1	0	53	0	232	0	85	249
EPAS1	2034	broad.mit.edu	37	2	46609140	46609140	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	733					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592																																						ENST00000263734.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2197-2199)tcA>tcG		endothelial PAS domain protein 1							44.0	48.0	47.0					2																	46609140		2203	4300	6503	SO:0001819	synonymous_variant	2034	0	0					g.chr2:46609140A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2199A>G	chr2.hg19:g.46609140A>G		1						p.S733S	NM_001430.4	NP_001421.2	1	2	3	2.183349	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)	14	2709	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	1	1	hg19	c.2199A>G	CCDS1825.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001430			58	58		179	175	1		1	1		0	0	49	0		1	1	0	77	0	262	0	58	179
SOCS5	9655	broad.mit.edu	37	2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	269					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAAGGCGGCTTAGTAT	0.408																																						ENST00000306503.5	0.840000	0.310000	6.900000e-01	4.200000e-01	0.540000	0.563511	0.540000	0.540000																										0				22						c.(805-807)Cgg>Tgg		suppressor of cytokine signaling 5							51.0	51.0	51.0					2																	46986474		2203	4300	6503	SO:0001583	missense	9655	1	121412	26				g.chr2:46986474C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.805C>T	chr2.hg19:g.46986474C>T	ENSP00000305133:p.Arg269Trp	1					SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	p.R269W	NM_014011.4	NP_054730.1	1	2	3	2.183349	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)	2	977	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	1	1	hg19	c.805C>T	CCDS1830.1	0	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264813	0.40095	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.38401	1.14;1.14	5.43	3.6	0.41247	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.66939	2.045	0.50467	D	0.999877	D	0.89917	1.0	D	0.81914	0.995	T	0.52351	-0.8587	10	0.72032	D	0.01	-11.791	7.3985	0.26950	0.4338:0.4875:0.0:0.0787	.	269	O75159	SOCS5_HUMAN	W	269	ENSP00000305133:R269W;ENSP00000378330:R269W	ENSP00000305133:R269W	R	+	1	2	2	SOCS5	46839978	46839978	0.995000	0.38212	0.795000	0.32087	0.936000	0.57629	3.253000	0.51469	0.824000	0.34613	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-4.193464	1	0.170000				15	15		342	332	0		1	1		0	0	55	0		9.998504e-01	9.167685e-01	0	6	0	94	0	15	342
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																						ENST00000306503.5	0.510000	0.210000	4.300000e-01	2.700000e-01	0.340000	0.356915	0.340000	0.330000																										3	Substitution - Missense(3)	p.S464L(3)	large_intestine(2)|lung(1)	22						c.(1390-1392)tCg>tTg		suppressor of cytokine signaling 5		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	107.0		1391,1391	4.6	1.0	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	SO:0001583	missense	9655	2	121412	38				g.chr2:46987060C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	chr2.hg19:g.46987060C>T	ENSP00000305133:p.Ser464Leu	1					SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	p.S464L	NM_014011.4	NP_054730.1	1	2	3	2.183349	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)	2	1563	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	1	1	hg19	c.1391C>T	CCDS1830.1	0	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	0	SOCS5	46840564	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-2.792006	1	0.170000				19	18		691	674	0		1	1		0	0	98	0		9.999880e-01	7.590796e-01	0	3	0	98	0	19	691
TTC7A	57217	broad.mit.edu	37	2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	285					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCGGCCAAGCACCTGGCGG	0.617																																						ENST00000319190.5	0.590000	0.300000	5.200000e-01	3.600000e-01	0.430000	0.444094	0.430000	0.430000																										0				25						c.(853-855)aaG>aaT		tetratricopeptide repeat domain 7A							90.0	96.0	94.0					2																	47221507		2203	4300	6503	SO:0001583	missense	57217	0	0					g.chr2:47221507G>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.855G>T	chr2.hg19:g.47221507G>T	ENSP00000316699:p.Lys285Asn	1					TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N	p.K285N	NM_020458.2	NP_065191.2	1	2	3	2.183349	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)	7	1223	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	1	1	hg19	c.855G>T	CCDS33193.1	0	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275418	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.32023	1.88;1.88;1.47	4.63	2.82	0.32997	4.63	2.82	0.32997	.	0.346876	0.29205	N	0.012822	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	D;P;P;P;P	0.53619	0.961;0.57;0.835;0.651;0.696	B;B;B;B;B	0.43360	0.417;0.096;0.272;0.122;0.196	T	0.02975	-1.1087	10	0.72032	D	0.01	-23.2989	9.8632	0.41127	0.1717:0.0:0.8283:0.0	.	285;251;285;113;251	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	251;285;285;112	ENSP00000386307:K251N;ENSP00000316699:K285N;ENSP00000378320:K285N	ENSP00000316699:K285N	K	+	3	2	2	TTC7A	47075011	47075011	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.442000	0.35046	0.679000	0.31345	0.655000	0.94253	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	0	0	0		21	5	2	1		1	1	155		155	154	1	2.060000	-3.607113	1	0.170000	XM_372927			33	32		939	921	0		1	1		1	0	155	0		9.575492e-01	3.740313e-01	0	6	0	109	0	33	939
MSH2	4436	broad.mit.edu	37	2	47693796	47693796	+	Splice_Site	SNP	G	G	T	rs267607964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000233146.2	+	10	1733		c.e10-1		MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000406134.1_Splice_Site	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2						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)		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)			TGATTATCAAGGCTTGGACCC	0.308			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000233146.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	2p22-p21	4436	D, Mis, N, F, S	mutS homolog 2 (E. coli)				E	E		colorectal, endometrial, ovarian	colorectal, endometrial, ovarian		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	112						c.e10-1	Mismatch excision repair (MMR)	mutS homolog 2							79.0	84.0	82.0					2																	47693796		2203	4300	6503	SO:0001630	splice_region_variant	4436	0	0		Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr2:47693796G>T	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.1511-1G>T	chr2.hg19:g.47693796G>T		1					MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000406134.1_Splice_Site		NM_000251.2	NP_000242.1	1	2	3	2.183349	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	10	1733	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	B4E2Z2|O75488	Splice_Site	SNP	ENST00000233146.2	1	1	hg19		CCDS1834.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982568	0.74474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MSH2	47547300	47547300	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000		Intron		64	64		371	365	1		1		1	0	0	76	113		1	0	1	0	23	0	175	64	371
MSH6	2956	broad.mit.edu	37	2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T	rs372352774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	125	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)		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)			CGAGAAAGGGAAATCAGTCCG	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2p16	2956	Mis, N, F, S	mutS homolog 6 (E. coli)				E	E		colorectal, endometrial, ovarian	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	229						c.(373-375)Aaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							121.0	117.0	118.0					2																	48018178		2203	4300	6503	SO:0001587	stop_gained	2956	0	0		Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr2:48018178A>T	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.373A>T	chr2.hg19:g.48018178A>T	ENSP00000234420:p.Lys125*	1					MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	p.K125*	NM_000179.2	NP_000170.1	1	2	3	2.183349	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	2	525	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	0	1	hg19	c.373A>T	CCDS1836.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.165162	0.94768	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.170355	0.51477	D	0.000100	.	.	.	.	.	.	0.47009	D	0.999281	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9904	16.0985	0.81148	1.0:0.0:0.0:0.0	.	.	.	.	X	125;123;125;26;26;26	.	ENSP00000234420:K125X	K	+	1	0	0	MSH6	47871682	47871682	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_000179			150	146		380	367	1		1	1	1	0	0	96	697		1	9.999899e-01	1	3	183	42	658	150	380
MSH6	2956	broad.mit.edu	37	2	48026622	48026622	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A|MSH6_ENST00000538136.1_Silent_p.A198A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	500					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)		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)			GAAAGATGGCACATATATCCA	0.473			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2p16	2956	Mis, N, F, S	mutS homolog 6 (E. coli)				E	E		colorectal, endometrial, ovarian	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	229						c.(1498-1500)gcA>gcC	Mismatch excision repair (MMR)	mutS homolog 6							93.0	86.0	88.0					2																	48026622		2203	4300	6503	SO:0001819	synonymous_variant	2956	0	0		Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr2:48026622A>C	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.1500A>C	chr2.hg19:g.48026622A>C		1					MSH6_ENST00000538136.1_Silent_p.A198A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A	p.A500A	NM_000179.2	NP_000170.1	1	2	3	2.183349	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	4	1652	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	1	1	hg19	c.1500A>C	CCDS1836.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_000179			57	57		197	194	1		1	1	1	0	0	38	563		1	9.999979e-01	1	6	173	65	479	57	197
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|MSH6_ENST00000538136.1_Missense_Mutation_p.R793H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1095			R -> H (in CRC; unknown pathological significance; mismatch repair proficient). {ECO:0000269|PubMed:12522549}.		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.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2p16	2956	Mis, N, F, S	mutS homolog 6 (E. coli)				E	E		colorectal, endometrial, ovarian	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.0?(2)|p.R1095H(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	229	GRCh37	CM030237	MSH6	M	rs63750253	c.(3283-3285)cGc>cAc	Mismatch excision repair (MMR)	mutS homolog 6							135.0	118.0	124.0					2																	48030670		2203	4300	6503	SO:0001583	missense	2956	4	121412	38	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr2:48030670G>A	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.3284G>A	chr2.hg19:g.48030670G>A	ENSP00000234420:p.Arg1095His	1					MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H	p.R1095H	NM_000179.2	NP_000170.1	1	2	3	2.183349	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	5	3436	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	1	1	hg19	c.3284G>A	CCDS1836.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	0	MSH6	47884174	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1		2	2	7	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_000179			82	81		285	282	1		1	1	1	0	1	73	1456		1	1	1	11	443	93	1266	82	285
MSH6	2956	broad.mit.edu	37	2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	rs35717727|rs193922343|rs267608115	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1234			E -> Q (in dbSNP:rs35717727).		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)		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)			AGTTGTTAAAGAACTTGCTGA	0.343			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2p16	2956	Mis, N, F, S	mutS homolog 6 (E. coli)				E	E		colorectal, endometrial, ovarian	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	229						c.(3700-3702)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							94.0	89.0	91.0					2																	48033396		2203	4300	6503	SO:0001587	stop_gained	2956	0	0		Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr2:48033396G>T	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.3700G>T	chr2.hg19:g.48033396G>T	ENSP00000234420:p.Glu1234*	1					MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*	p.E1234*	NM_000179.2	NP_000170.1	1	2	3	2.183349	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	8	3852	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	0	1	hg19	c.3700G>T	CCDS1836.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.267563	0.99731	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.091222	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-22.6663	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	1234;200;1104;932	.	ENSP00000234420:E1234X	E	+	1	0	0	MSH6	47886900	47886900	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.376000	0.97181	2.861000	0.98227	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_000179			54	53		221	220	1		1	1	1	0	0	58	49		1	9.999967e-01	9.997668e-01	5	6	75	48	54	221
FBXO11	80204	broad.mit.edu	37	2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000405808.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	777					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999947	0.990000	1.000000				Rec	yes			Rec	yes		2	2p16.3	2p16.3	80204	Mis, F, D	F-box protein 11				L	L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	26						c.(2329-2331)Ttt>Ctt		F-box protein 11							76.0	75.0	76.0					2																	48037464		2203	4300	6503	SO:0001583	missense	80204	0	0					g.chr2:48037464A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2329T>C	chr2.hg19:g.48037464A>G	ENSP00000384823:p.Phe777Leu	1					FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L	p.F777L	NM_001190274.1	NP_001177203.1	1	2	3	2.183349	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	19	2401	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	1	1	hg19	c.2329T>C	CCDS54357.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691405	0.48097	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.04245	-0.25	0.80722	D	1	B	0.29862	0.259	P	0.55871	0.786	T	0.76547	-0.2919	10	0.27785	T	0.31	-2.8193	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201	B3KUR1	.	L	693;777;693;201	ENSP00000385398:F693L;ENSP00000384823:F777L;ENSP00000323822:F693L;ENSP00000397359:F201L	ENSP00000323822:F693L	F	-	1	0	0	FBXO11	47890968	47890968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_012167, NM_018693, NM_025133			26	25		150	147	0		1	1		0	0	27	0		9.999999e-01	1	0	32	0	143	0	26	150
STON1	11037	broad.mit.edu	37	2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000406226.1	+	3	791	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1_ENST00000309835.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	199					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				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)			TTCACCCTTGACCCACCAGGA	0.408																																						ENST00000406226.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(595-597)gAc>gGc		stonin 1							83.0	79.0	80.0					2																	48808368		2203	4300	6503	SO:0001583	missense	11037	0	0					g.chr2:48808368A>G	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.596A>G	chr2.hg19:g.48808368A>G	ENSP00000384615:p.Asp199Gly	1					STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1_ENST00000309835.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G	p.D199G	NM_001198595.1	NP_001185524.1	1	2	3	2.183349	Q9Y6Q2	STON1_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	3	791	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	1	1	hg19	c.596A>G	CCDS1841.1	1	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542363	0.13250	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8;2.96	4.42	4.42	0.53409	4.42	4.42	0.53409	.	0.526218	0.20876	N	0.084092	T	0.18509	0.0444	L	0.53249	1.67	0.09310	N	1	D;P;D	0.76494	0.999;0.651;0.999	D;B;D	0.72338	0.977;0.115;0.913	T	0.36768	-0.9734	10	0.19147	T	0.46	.	1.4856	0.02446	0.5238:0.1531:0.0883:0.2347	.	199;199;199	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	G	199	ENSP00000385273:D199G;ENSP00000384615:D199G;ENSP00000310969:D199G;ENSP00000385499:D199G;ENSP00000385701:D199G;ENSP00000378236:D199G;ENSP00000311493:D199G;ENSP00000378234:D199G	ENSP00000310969:D199G	D	+	2	0	0	STON1-GTF2A1L;STON1	48661872	48661872	0.159000	0.22864	0.386000	0.26170	0.293000	0.27360	0.993000	0.29680	2.209000	0.71365	0.533000	0.62120	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_006873			108	106		311	304	0		1	0		0	0	79	0		1	9.894239e-01	0	0	0	23	0	108	311
STON1	11037	broad.mit.edu	37	2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000406226.1	+	3	1203	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	336	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				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)			CCAAGGTTGAGAACTTCAGTG	0.368																																						ENST00000406226.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1006-1008)gaG>gaT		stonin 1							89.0	94.0	92.0					2																	48808780		2201	4300	6501	SO:0001583	missense	11037	0	0					g.chr2:48808780G>T	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.1008G>T	chr2.hg19:g.48808780G>T	ENSP00000384615:p.Glu336Asp	1					STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D	p.E336D	NM_001198595.1	NP_001185524.1	1	2	3	2.183349	Q9Y6Q2	STON1_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	3	1203	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	1	1	hg19	c.1008G>T	CCDS1841.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12039	2.75;2.75;2.75;2.73;2.72;2.73;2.73;2.91	5.45	3.66	0.41972	5.45	3.66	0.41972	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63428	1.95	0.41356	D	0.987397	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.963;0.994	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8338	0.46675	0.2089:0.0:0.7911:0.0	.	336;336;336	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	336	ENSP00000385273:E336D;ENSP00000384615:E336D;ENSP00000310969:E336D;ENSP00000385499:E336D;ENSP00000385701:E336D;ENSP00000378236:E336D;ENSP00000311493:E336D;ENSP00000378234:E336D	ENSP00000310969:E336D	E	+	3	2	2	STON1-GTF2A1L;STON1	48662284	48662284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.632000	0.37102	0.870000	0.35726	0.591000	0.81541	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_006873			117	116		558	554	0		1	0		0	0	157	0		1	9.525382e-01	0	1	0	25	0	117	558
STON1	11037	broad.mit.edu	37	2	48809668	48809668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000406226.1	+	3	2091	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	632	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				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)			AGGCAGTGGTATGGAAGATAG	0.418																																						ENST00000406226.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1894-1896)gtA>gtG		stonin 1							49.0	48.0	48.0					2																	48809668		2203	4300	6503	SO:0001819	synonymous_variant	11037	0	0					g.chr2:48809668A>G	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.1896A>G	chr2.hg19:g.48809668A>G		1					STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V	p.V632V	NM_001198595.1	NP_001185524.1	1	2	3	2.183349	Q9Y6Q2	STON1_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	3	2091	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	1	1	hg19	c.1896A>G	CCDS1841.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_006873			56	56		226	220	0		1	0		0	0	45	0		1	9.842373e-01	0	0	0	29	0	56	226
LHCGR	3973	broad.mit.edu	37	2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|LHCGR_ENST00000405626.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	308					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338																																						ENST00000294954.7	1.000000	0.550000	1	8.300000e-01	0.990000	0.940675	0.990000	1.000000																										0				56						c.(922-924)Gta>Tta		luteinizing hormone/choriogonadotropin receptor	Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						127.0	97.0	107.0					2																	48921388		2202	4295	6497	SO:0001583	missense	3973	0	0					g.chr2:48921388C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.922G>T	chr2.hg19:g.48921388C>A	ENSP00000294954:p.Val308Leu	1					LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L	p.V308L	NM_000233.3	NP_000224.2	1	2	3	2.183349	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	10	943	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	0	1	hg19	c.922G>T	CCDS1842.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588934	0.28357	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.79247	-0.87;-0.79;-1.25;-1.0	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.699661	0.15057	N	0.282989	T	0.60117	0.2244	N	0.13235	0.315	0.27726	N	0.944958	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	9	.	.	.	.	9.5701	0.39422	0.0:0.9001:0.0:0.0999	.	308	P22888	LSHR_HUMAN	L	246;308;308;308	ENSP00000344301:V246L;ENSP00000294954:V308L;ENSP00000385847:V308L;ENSP00000385406:V308L	.	V	-	1	0	0	LHCGR	48774892	48774892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.451000	0.35145	2.521000	0.84997	0.563000	0.77884	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-12.656270	1	0.170000	NM_000233.3			7	7		69	68	1		1			0	0	20	0		9.814467e-01	0	0	0	0	0	0	7	69
FSHR	2492	broad.mit.edu	37	2	49195960	49195960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:49195960A>G	ENST00000406846.2	-	9	850	c.731T>C	c.(730-732)cTg>cCg	p.L244P	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.L218P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					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)			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)	CCTGGCCCTCAGCTTCTTAAG	0.438									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2	0.530000	0.120000	4.100000e-01	1.900000e-01	0.280000	0.305465	0.280000	0.270000																										0				73						c.(730-732)cTg>cCg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)						84.0	81.0	82.0					2																	49195960		2203	4300	6503	SO:0001583	missense	2492	0	0		Gonadal Dysgenesis, 46 XX	Familial Cancer Database		g.chr2:49195960A>G		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.731T>C	chr2.hg19:g.49195960A>G	ENSP00000384708:p.Leu244Pro	1					FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	p.L244P	NM_000145.3	NP_000136.2	1	2	3	2.183349	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	9	850	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	0	1	hg19	c.731T>C	CCDS1843.1	0	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492369	0.84962	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	D;D	0.82711	-1.64;-1.64	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.082955	0.50627	D	0.000101	D	0.93324	0.7872	H	0.94620	3.56	0.80722	D	1	D;D	0.76494	0.975;0.999	D;D	0.75484	0.916;0.986	D	0.94962	0.8109	9	.	.	.	.	14.8487	0.70281	1.0:0.0:0.0:0.0	.	218;244	Q05AH0;P23945	.;FSHR_HUMAN	P	244;218	ENSP00000384708:L244P;ENSP00000306780:L218P	.	L	-	2	0	0	FSHR	49049464	49049464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2	0	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-7.713866	1	0.170000				7	6		322	316	0		1			0	0	66	0		9.793609e-01	0	0	0	0	0	0	7	322
NRXN1	9378	broad.mit.edu	37	2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000406316.2	-	22	5659	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	NRXN1_ENST00000404971.1_Missense_Mutation_p.R1465W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1395					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)			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)			CTGGACTCCCGGATCACTTCT	0.537																																						ENST00000406316.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(4183-4185)Cgg>Tgg		neurexin 1							71.0	59.0	63.0					2																	50149333		2203	4300	6503	SO:0001583	missense	9378	1	121412	28				g.chr2:50149333G>A	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.4183C>T	chr2.hg19:g.50149333G>A	ENSP00000384311:p.Arg1395Trp	1					NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1465W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W	p.R1395W	NM_004801.4	NP_004792.1	1	2	3	2.183349	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)	22	5659	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	1	1	hg19	c.4183C>T	CCDS54360.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115777|4.115777	0.77323|0.77323	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73789	.|0.74;1.97;-0.08;-0.09;-0.78;-0.67;-0.38;-0.23	5.95|5.95	5.04|5.04	0.67666|0.67666	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.48286	.|U	.|0.000200	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.72118|0.72118	2.19|2.19	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D;D	.|0.89917	.|0.995;1.0;0.999;0.999;0.999;0.999	.|P;D;D;D;D;D	.|0.78314	.|0.802;0.963;0.991;0.932;0.918;0.967	D|D	0.86372|0.86372	0.1724|0.1724	5|10	.|0.87932	.|D	.|0	.|.	16.6034|16.6034	0.84822|0.84822	0.0:0.0:0.8694:0.1306|0.0:0.0:0.8694:0.1306	.|.	.|60;1465;360;1395;1414;57	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|W	61|360;314;413;1465;1395;1417;1425;1466;1417;1395	.|ENSP00000341184:R360W;ENSP00000385580:R413W;ENSP00000385142:R1465W;ENSP00000384311:R1395W;ENSP00000434015:R1417W;ENSP00000385017:R1425W;ENSP00000385434:R1417W;ENSP00000385681:R1395W	.|ENSP00000341184:R360W	P|R	-|-	2|1	0|2	0|2	NRXN1|NRXN1	50002837|50002837	50002837|50002837	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	8.001000|8.001000	0.88508|0.88508	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCG|CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.157003	1	0.170000				45	45		243	241	1		1	0		0	0	36	0		1	6.843471e-02	0	0	0	3	0	45	243
NRXN1	9378	broad.mit.edu	37	2	50724826	50724826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000406316.2	-	14	4000	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.L882L|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Silent_p.L834L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	842	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			TGGAACTCCAGCCTAGTATGA	0.388																																						ENST00000406316.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(2524-2526)Ctg>Ttg		neurexin 1							83.0	76.0	78.0					2																	50724826		1907	4119	6026	SO:0001819	synonymous_variant	9378	0	0					g.chr2:50724826G>A	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.2524C>T	chr2.hg19:g.50724826G>A		1					NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000404971.1_Silent_p.L882L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000405472.3_Silent_p.L834L	p.L842L	NM_004801.4	NP_004792.1	1	2	3	2.183349	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)	14	4000	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	1	1	hg19	c.2524C>T	CCDS54360.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				53	53		265	258	1		1	0		0	0	62	0		1	2.891355e-02	0	0	0	2	0	53	265
NRXN1	9378	broad.mit.edu	37	2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000406316.2	-	2	1825	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000404971.1_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	117	Laminin G-like 1. {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)			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)			CGGATGCGCACGCTGTGCCAG	0.667																																						ENST00000406316.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999929	0.990000	1.000000																										0				58						c.(349-351)Gtg>Atg		neurexin 1							25.0	30.0	28.0					2																	51255063		2089	4207	6296	SO:0001583	missense	9378	0	0					g.chr2:51255063C>T	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.349G>A	chr2.hg19:g.51255063C>T	ENSP00000384311:p.Val117Met	1					NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000404971.1_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M	p.V117M	NM_004801.4	NP_004792.1	1	2	3	2.183349	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)	2	1825	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	1	1	hg19	c.349G>A	CCDS54360.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527919	0.85706	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.97	4.97	0.65823	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.24547	U	0.037600	D	0.94823	0.8328	M	0.90483	3.12	0.49915	D	0.99983	D;D;D	0.89917	0.997;1.0;0.969	D;D;B	0.91635	0.964;0.999;0.379	D	0.95756	0.8796	10	0.72032	D	0.01	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	117;117;117	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	117	ENSP00000385142:V117M;ENSP00000384311:V117M;ENSP00000434015:V117M;ENSP00000385017:V117M;ENSP00000385434:V117M;ENSP00000385681:V117M;ENSP00000385310:V117M	ENSP00000385017:V117M	V	-	1	0	0	NRXN1	51108567	51108567	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	4.863000	0.62983	2.293000	0.77203	0.563000	0.77884	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				29	29		179	175	0		1	0		0	0	47	0		1	0	0	0	0	1	0	29	179
NRXN1	9378	broad.mit.edu	37	2	51255298	51255298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	ENST00000406316.2	-	2	1590	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000404971.1_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	38	Laminin G-like 1. {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)			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)			GCGTCCATTGGCCCTCGGCGC	0.677																																						ENST00000406316.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(112-114)ggC>ggT		neurexin 1							7.0	9.0	8.0					2																	51255298		1954	4104	6058	SO:0001819	synonymous_variant	9378	0	0					g.chr2:51255298G>A	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.114C>T	chr2.hg19:g.51255298G>A		1					NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000404971.1_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G	p.G38G	NM_004801.4	NP_004792.1	1	2	3	2.183349	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)	2	1590	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	0	1	hg19	c.114C>T	CCDS54360.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000				23	21		32	32	0		1	0		0	0	8	0		9.999999e-01	0	0	0	0	1	0	23	32
PSME4	23198	broad.mit.edu	37	2	54117259	54117259	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Silent_p.A570A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1426					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)			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)			TTGCTATACAAGCTCCCCAGT	0.398																																						ENST00000404125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4276-4278)gcT>gcC		proteasome (prosome, macropain) activator subunit 4							142.0	145.0	144.0					2																	54117259		2203	4300	6503	SO:0001819	synonymous_variant	23198	0	0					g.chr2:54117259A>G	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.4278T>C	chr2.hg19:g.54117259A>G		1					PSME4_ENST00000421748.2_Silent_p.A570A|PSME4_ENST00000476586.1_5'Flank	p.A1426A	NM_014614.2	NP_055429.2	1	2	3	2.183349	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	37	4333	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	1	1	hg19	c.4278T>C	CCDS33197.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1		2	2	2	0		0	0	151		151	148	1	2.060000	-20.000000	1	0.170000	XM_040158			150	147		475	472	1		1	1		0	0	151	0		1	1	0	45	0	62	0	150	475
PSME4	23198	broad.mit.edu	37	2	54127092	54127092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1116					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)			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)			GCAATATCTGGTTGATAGAGG	0.348																																						ENST00000404125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3346-3348)aaC>aaT		proteasome (prosome, macropain) activator subunit 4							182.0	183.0	183.0					2																	54127092		2203	4300	6503	SO:0001819	synonymous_variant	23198	0	0					g.chr2:54127092G>A	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.3348C>T	chr2.hg19:g.54127092G>A		1					PSME4_ENST00000421748.2_Silent_p.N260N	p.N1116N	NM_014614.2	NP_055429.2	1	2	3	2.183349	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	29	3403	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	1	1	hg19	c.3348C>T	CCDS33197.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	XM_040158			122	117		616	598	1		1	1		0	0	100	0		1	1	0	12	0	151	0	122	616
PSME4	23198	broad.mit.edu	37	2	54133798	54133798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	960					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)			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)			GTATCTTTTTGTATTCACAAC	0.358																																						ENST00000404125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2878-2880)taC>taT		proteasome (prosome, macropain) activator subunit 4							153.0	152.0	152.0					2																	54133798		2203	4300	6503	SO:0001819	synonymous_variant	23198	0	0					g.chr2:54133798G>A	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.2880C>T	chr2.hg19:g.54133798G>A		1					PSME4_ENST00000421748.2_Silent_p.Y104Y	p.Y960Y	NM_014614.2	NP_055429.2	1	2	3	2.183349	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	26	2935	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	1	1	hg19	c.2880C>T	CCDS33197.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	XM_040158			70	68		342	340	0		1	1		0	0	79	0		1	9.999978e-01	0	13	0	81	0	70	342
PSME4	23198	broad.mit.edu	37	2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	336					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)			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)			AGATGTGATGCTGTTAAACAA	0.383																																						ENST00000404125.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1006-1008)aGc>aAc		proteasome (prosome, macropain) activator subunit 4							133.0	120.0	124.0					2																	54159848		2203	4300	6503	SO:0001583	missense	23198	0	0					g.chr2:54159848C>T	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.1007G>A	chr2.hg19:g.54159848C>T	ENSP00000384211:p.Ser336Asn	1					PSME4_ENST00000421748.2_Intron	p.S336N	NM_014614.2	NP_055429.2	1	2	3	2.183349	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	9	1062	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	1	1	hg19	c.1007G>A	CCDS33197.2	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113838	0.77210	.	.	ENSG00000068878	ENST00000404125	T	0.04809	3.55	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.66939	2.045	0.80722	D	1	P	0.35656	0.514	B	0.29176	0.099	T	0.16482	-1.0401	10	0.33141	T	0.24	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	336	Q14997	PSME4_HUMAN	N	336	ENSP00000384211:S336N	ENSP00000374643:S336N	S	-	2	0	0	PSME4	54013352	54013352	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.939000	0.70179	2.865000	0.98341	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	XM_040158			99	98		337	325	1		1	1		0	0	92	0		1	1	0	36	0	55	0	99	337
TSPYL6	388951	broad.mit.edu	37	2	54483194	54483194	+	Missense_Mutation	SNP	G	G	A	rs374531982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54483194G>A	ENST00000317802.7	-	1	215	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	32					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TACCTCTGTCGCCTTGCTCTT	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					ENST00000317802.7	0.400000	0.150000	3.400000e-01	2.000000e-01	0.260000	0.272173	0.260000	0.270000																										0				20						c.(94-96)gCg>gTg		TSPY-like 6		G	VAL/ALA,	2,3908		0,2,1953	90.0	101.0	97.0		95,	-2.0	0.0	2		97	1,8269		0,1,4134	no	missense,intron	ACYP2,TSPYL6	NM_001003937.2,NM_138448.3	64,	0,3,6087	AA,AG,GG		0.0121,0.0512,0.0246	probably-damaging,	32/411,	54483194	3,12177	1955	4135	6090	SO:0001583	missense	388951	25	120892	48				g.chr2:54483194G>A	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.95C>T	chr2.hg19:g.54483194G>A	ENSP00000417919:p.Ala32Val	1					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	p.A32V	NM_001003937.2	NP_001003937.2	1	2	3	2.183349	Q8N831	TSYL6_HUMAN		1	215	-			Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	0	1	hg19	c.95C>T	CCDS42682.1	0	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013240	0.19277	5.12E-4	1.21E-4	ENSG00000178021	ENST00000317802	T	0.28454	1.61	1.1	-1.96	0.07525	1.1	-1.96	0.07525	.	.	.	.	.	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	B	0.40410	0.328	T	0.14587	-1.0467	9	0.87932	D	0	.	1.7299	0.02929	0.289:0.0:0.4038:0.3072	.	32	Q8N831	TSYL6_HUMAN	V	32	ENSP00000417919:A32V	ENSP00000417919:A32V	A	-	2	0	0	TSPYL6	54336698	54336698	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.705000	0.05035	0.467000	0.42956	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	0	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-2.881768	1	0.170000	XM_371494			16	17		776	764	0		1			0	0	111	0		9.999241e-01	0	0	0	0	0	0	16	776
SPTBN1	6711	broad.mit.edu	37	2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	36	Actin-binding.				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)			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)			GAGAACAGCTCTGCGCGGCTT	0.537																																						ENST00000356805.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(106-108)tCt>tTt		spectrin, beta, non-erythrocytic 1							135.0	122.0	126.0					2																	54753662		2203	4300	6503	SO:0001583	missense	6711	0	0					g.chr2:54753662C>T		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.107C>T	chr2.hg19:g.54753662C>T	ENSP00000349259:p.Ser36Phe	1					AC092839.3_ENST00000433475.1_RNA	p.S36F	NM_003128.2	NP_003119.2	1	2	3	2.183349	Q01082	SPTB2_HUMAN	Lung(47;0.24)	2	388	+			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	1	1	hg19	c.107C>T	CCDS33198.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.394759	0.96009	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27402	1.67;1.67	5.77	5.77	0.91146	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57522	-0.7797	10	0.87932	D	0	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	36	Q01082	SPTB2_HUMAN	F	36	ENSP00000349259:S36F;ENSP00000374630:S36F	ENSP00000349259:S36F	S	+	2	0	0	SPTBN1	54607166	54607166	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	7.794000	0.85869	2.726000	0.93360	0.650000	0.86243	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				64	61		321	313	1		1	1		0	0	80	0		1	9.999998e-01	0	3	0	113	0	64	321
SPTBN1	6711	broad.mit.edu	37	2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000356805.4	+	14	2661	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A781T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	794					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)			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)			GGAAGAGATCGCCAATTACAG	0.597																																						ENST00000356805.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(2380-2382)Gcc>Acc		spectrin, beta, non-erythrocytic 1							96.0	92.0	93.0					2																	54856651		2203	4300	6503	SO:0001583	missense	6711	1	121412	27				g.chr2:54856651G>A		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.2380G>A	chr2.hg19:g.54856651G>A	ENSP00000349259:p.Ala794Thr	1					SPTBN1_ENST00000333896.5_Missense_Mutation_p.A781T	p.A794T	NM_003128.2	NP_003119.2	1	2	3	2.183349	Q01082	SPTB2_HUMAN	Lung(47;0.24)	14	2661	+			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	1	1	hg19	c.2380G>A	CCDS33198.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987641	0.35036	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53640	0.61;0.61	5.78	3.87	0.44632	5.78	3.87	0.44632	.	0.312640	0.34088	N	0.004274	T	0.40645	0.1125	L	0.50333	1.59	0.33051	D	0.532808	B;B	0.28713	0.037;0.22	B;B	0.33568	0.103;0.166	T	0.47911	-0.9080	10	0.25751	T	0.34	.	7.98	0.30177	0.0894:0.0:0.7519:0.1587	.	781;794	Q01082-3;Q01082	.;SPTB2_HUMAN	T	794;781	ENSP00000349259:A794T;ENSP00000334156:A781T	ENSP00000334156:A781T	A	+	1	0	0	SPTBN1	54710155	54710155	0.927000	0.31430	1.000000	0.80357	0.661000	0.39034	1.759000	0.38420	0.670000	0.31165	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-20.000000	1	0.170000				98	97		456	452	1		1	1		0	0	118	0		1	1	0	153	0	496	0	98	456
SPTBN1	6711	broad.mit.edu	37	2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000356805.4	+	24	5207	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				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)			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)			AAGCTGTGGAGGACTATGCAG	0.557																																						ENST00000356805.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(4924-4926)gaG>gaT		spectrin, beta, non-erythrocytic 1							113.0	103.0	107.0					2																	54874327		2203	4300	6503	SO:0001583	missense	6711	1	121412	35				g.chr2:54874327G>T		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.4926G>T	chr2.hg19:g.54874327G>T	ENSP00000349259:p.Glu1642Asp	1					SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629D	p.E1642D	NM_003128.2	NP_003119.2	1	2	3	2.183349	Q01082	SPTB2_HUMAN	Lung(47;0.24)	24	5207	+			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	1	1	hg19	c.4926G>T	CCDS33198.1	1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664028	0.47572	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51574	0.7;0.7	5.93	2.74	0.32292	5.93	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.43923	1.385	0.37954	D	0.932739	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21381	-1.0247	10	0.40728	T	0.16	.	4.0883	0.09957	0.3414:0.0:0.4919:0.1666	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1642;1629	ENSP00000349259:E1642D;ENSP00000334156:E1629D	ENSP00000334156:E1629D	E	+	3	2	2	SPTBN1	54727831	54727831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	0.850000	0.35239	0.591000	0.81541	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-2.978895	1	0.170000				90	90		449	440	1		1	1		0	0	110	0		1	1	0	227	0	580	0	90	449
RTN4	57142	broad.mit.edu	37	2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	966					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)			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						TTTAACTATGCTCTCTATCTC	0.403																																						ENST00000337526.6	1.000000	0.760000	1	9.000000e-01	0.990000	0.964980	0.990000	1.000000																										0				36						c.(2896-2898)aGc>aAc		reticulon 4							137.0	137.0	137.0					2																	55252338		2203	4300	6503	SO:0001583	missense	57142	1	121410	29				g.chr2:55252338C>T	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.2897G>A	chr2.hg19:g.55252338C>T	ENSP00000337838:p.Ser966Asn	1					RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N	p.S966N	NM_020532.4	NP_065393.1	1	2	3	2.183349	Q9NQC3	RTN4_HUMAN		3	3140	-			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	1	1	hg19	c.2897G>A	CCDS42684.1	1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583026	0.13749	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.20738	2.05;2.05;2.06;2.05;2.05;2.07	5.7	4.81	0.61882	5.7	4.81	0.61882	.	5.311810	0.00166	N	0.000000	T	0.28200	0.0696	M	0.64997	1.995	0.21355	N	0.999716	B	0.09022	0.002	B	0.09377	0.004	T	0.40627	-0.9553	10	0.22109	T	0.4	-0.0342	10.6257	0.45506	0.0:0.7981:0.1317:0.0702	.	966	Q9NQC3	RTN4_HUMAN	N	760;760;966;760;760;734	ENSP00000384471:S760N;ENSP00000349944:S760N;ENSP00000337838:S966N;ENSP00000378109:S760N;ENSP00000385650:S760N;ENSP00000346465:S734N	ENSP00000337838:S966N	S	-	2	0	0	RTN4	55105842	55105842	0.939000	0.31865	0.316000	0.25252	0.007000	0.05969	1.391000	0.34475	1.370000	0.46153	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-11.727550	1	0.170000				41	41		458	445	0		1			0	0	96	0		1	0	0	0	0	0	0	41	458
RTN4	57142	broad.mit.edu	37	2	55253303	55253303	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Silent_p.V438V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	644					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)			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						TTTCATAATTAACTGAAGAAG	0.408																																						ENST00000337526.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1930-1932)gtT>gtC		reticulon 4							33.0	35.0	34.0					2																	55253303		2203	4300	6503	SO:0001819	synonymous_variant	57142	0	0					g.chr2:55253303A>G	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.1932T>C	chr2.hg19:g.55253303A>G		1					RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.V438V	p.V644V	NM_020532.4	NP_065393.1	1	2	3	2.183349	Q9NQC3	RTN4_HUMAN		3	2175	-			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	1	1	hg19	c.1932T>C	CCDS42684.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				36	34		165	165	1		1	0		0	0	34	0		1	3.395151e-02	0	0	0	2	0	36	165
CCDC88A	55704	broad.mit.edu	37	2	55589552	55589552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000436346.1	-	7	1360	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	173					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)			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						CCATCCATTGCAGGTCAAACA	0.343																																						ENST00000436346.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(517-519)ctG>ctA		coiled-coil domain containing 88A							103.0	97.0	99.0					2																	55589552		2203	4300	6503	SO:0001819	synonymous_variant	55704	1	121396	23				g.chr2:55589552C>T	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.519G>A	chr2.hg19:g.55589552C>T		1					CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L	p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	1	2	3	2.183349	Q3V6T2	GRDN_HUMAN		7	1360	-			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	1	1	hg19	c.519G>A		1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.999930	1	0.170000	NM_017571			36	36		130	128	1		1	1		0	0	36	0		1	9.983093e-01	0	14	0	25	0	36	130
CFAP36	112942	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q			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																																						ENST00000349456.4	1.000000	0.580000	1	7.500000e-01	0.960000	0.903333	0.960000	1.000000																										1	Substitution - Missense(1)	p.R126Q(1)	large_intestine(1)	14						c.(376-378)cGa>cAa									55.0	55.0	55.0					2																	55756108		2203	4300	6503	SO:0001583	missense	0	1	121410	33				g.chr2:55756108G>A																												ENST00000349456.4:c.377G>A	chr2.hg19:g.55756108G>A	ENSP00000295117:p.Arg126Gln	1					CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q	p.R126Q			1	2	3	2.183349	Q96G28	CFA36_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	4	525	+			Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	1	1	hg19	c.377G>A	CCDS1854.2	1	.	.	.	.	.	.	.	.	.	.	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	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	0	CCDC104	55609612	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	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.142622	1	0.170000				17	17		211	209	0		1	1		0	0	50	0		9.999687e-01	9.999936e-01	0	17	0	252	0	17	211
CFAP36	112942	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N			Q96G28	CFA36_HUMAN		141										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)			CTGCTTAACCGATGGCTCTGA	0.358																																						ENST00000349456.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(421-423)Gat>Aat									134.0	130.0	131.0					2																	55761032		2203	4300	6503	SO:0001583	missense	0	3	121412	34				g.chr2:55761032G>A																												ENST00000349456.4:c.421G>A	chr2.hg19:g.55761032G>A	ENSP00000295117:p.Asp141Asn	1					CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N	p.D141N			1	2	3	2.183349	Q96G28	CFA36_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	5	569	+			Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	1	1	hg19	c.421G>A	CCDS1854.2	1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	0	CCDC104	55614536	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.529098	1	0.170000				82	81		310	307	1		1	1		0	0	48	0		1	1	0	69	0	150	0	82	310
SMEK2	57223	broad.mit.edu	37	2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000345102.5	-	4	893	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000272313.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	198					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)				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)			ATTCCTCTAATAATTTCATAC	0.383																																						ENST00000345102.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(592-594)Att>Gtt		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							64.0	69.0	67.0					2																	55825881		2203	4300	6503	SO:0001583	missense	57223	0	0					g.chr2:55825881T>C	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.592A>G	chr2.hg19:g.55825881T>C	ENSP00000339769:p.Ile198Val	1					SMEK2_ENST00000272313.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	p.I198V	NM_001122964.1	NP_001116436	1	2	3	2.183349	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	4	893	-			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	1	1	hg19	c.592A>G	CCDS46289.1	1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591840	0.28357	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.74	4.56	0.56223	5.74	4.56	0.56223	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.148187	0.64402	D	0.000010	T	0.24470	0.0593	N	0.16307	0.4	0.44789	D	0.997791	B;B;B;B	0.13594	0.0;0.004;0.001;0.008	B;B;B;B	0.20384	0.001;0.029;0.003;0.013	T	0.05835	-1.0861	10	0.06494	T	0.89	-7.5148	12.0855	0.53695	0.129:0.0:0.0:0.871	.	198;198;198;198	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	V	198	ENSP00000272313:I198V;ENSP00000385912:I198V;ENSP00000339769:I198V	ENSP00000272313:I198V	I	-	1	0	0	SMEK2	55679385	55679385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	0.953000	0.37825	0.533000	0.62120	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	1	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_020463			97	95		229	225	1		1	1		0	0	56	0		1	1	0	28	0	113	0	97	229
SMEK2	57223	broad.mit.edu	37	2	55825941	55825941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000345102.5	-	4	833	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000272313.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	178					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)				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)			GCTTGGAACAGCTGCAATAGT	0.398																																						ENST00000345102.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(532-534)Ctg>Ttg		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							78.0	83.0	81.0					2																	55825941		2203	4300	6503	SO:0001819	synonymous_variant	57223	0	0					g.chr2:55825941G>A	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.532C>T	chr2.hg19:g.55825941G>A		1					SMEK2_ENST00000272313.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	p.L178L	NM_001122964.1	NP_001116436	1	2	3	2.183349	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	4	833	-			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	1	1	hg19	c.532C>T	CCDS46289.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	1	0	0		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_020463			58	59		303	297	1		1	1		0	0	72	0		1	1	0	48	0	85	0	58	303
PNPT1	87178	broad.mit.edu	37	2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	620	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)			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)			CAGGTCCAACAAATTTTGCTC	0.333																																						ENST00000447944.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1858-1860)ttT>ttA		polyribonucleotide nucleotidyltransferase 1							78.0	79.0	79.0					2																	55871818		2203	4298	6501	SO:0001583	missense	87178	0	0					g.chr2:55871818A>T	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.1860T>A	chr2.hg19:g.55871818A>T	ENSP00000400646:p.Phe620Leu	1						p.F620L	NM_033109.3	NP_149100.2	1	2	3	2.183349	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	23	1946	-			Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	1	1	hg19	c.1860T>A	CCDS1856.1	1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436695	0.12104	.	.	ENSG00000138035	ENST00000447944	T	0.22134	1.97	5.97	3.64	0.41730	5.97	3.64	0.41730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.11427	0.14	0.53005	D	0.999963	B	0.14012	0.009	B	0.23716	0.048	T	0.07809	-1.0753	10	0.87932	D	0	-27.5943	8.8176	0.35004	0.7663:0.0:0.2337:0.0	.	620	Q8TCS8	PNPT1_HUMAN	L	620	ENSP00000400646:F620L	ENSP00000393953:F620L	F	-	3	2	2	PNPT1	55725322	55725322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.121000	0.50438	0.531000	0.28639	-0.250000	0.11733	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_033109			56	53		318	311	1		1	1		0	0	51	0		1	9.999971e-01	0	18	0	90	0	56	318
PNPT1	87178	broad.mit.edu	37	2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					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)			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)			GTCAGCAAACGATAATCTTCT	0.313																																						ENST00000447944.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1582-1584)Cgt>Tgt		polyribonucleotide nucleotidyltransferase 1							94.0	96.0	95.0					2																	55874502		2203	4300	6503	SO:0001583	missense	87178	1	121412	29				g.chr2:55874502G>A	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.1582C>T	chr2.hg19:g.55874502G>A	ENSP00000400646:p.Arg528Cys	1						p.R528C	NM_033109.3	NP_149100.2	1	2	3	2.183349	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	19	1668	-			Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	1	1	hg19	c.1582C>T	CCDS1856.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486391	0.63962	.	.	ENSG00000138035	ENST00000447944	T	0.44083	0.93	5.54	5.54	0.83059	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.55481	1.735	0.80722	D	1	P	0.44090	0.826	B	0.43701	0.428	T	0.50206	-0.8855	10	0.66056	D	0.02	-5.3929	19.831	0.96636	0.0:0.0:1.0:0.0	.	528	Q8TCS8	PNPT1_HUMAN	C	528	ENSP00000400646:R528C	ENSP00000386075:R528C	R	-	1	0	0	PNPT1	55728006	55728006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.755000	0.94549	0.563000	0.77884	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	1	0	0		2	2	2	0		0	0	72		72	71	1	2.060000	-3.318884	1	0.170000	NM_033109			79	79		478	468	1		1	1		0	0	72	0		1	9.999998e-01	0	30	0	103	0	79	478
EFEMP1	2202	broad.mit.edu	37	2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	488	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1462-1464)Gtg>Atg		EGF containing fibulin-like extracellular matrix protein 1							132.0	121.0	125.0					2																	56094228		2203	4300	6503	SO:0001583	missense	2202	0	0					g.chr2:56094228C>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1462G>A	chr2.hg19:g.56094228C>T	ENSP00000378058:p.Val488Met	1					EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	1	2	3	2.183349	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	11	1897	-			A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	1	1	hg19	c.1462G>A	CCDS1857.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408195	0.83340	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.88818	-2.43;-2.43;-1.95;-2.43	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000053	D	0.94241	0.8151	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.94553	0.7755	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	350;488	B4DW75;Q12805	.;FBLN3_HUMAN	M	488;488;344;350;488	ENSP00000378058:V488M;ENSP00000378057:V488M;ENSP00000399145:V350M;ENSP00000347596:V488M	ENSP00000347596:V488M	V	-	1	0	0	EFEMP1	55947732	55947732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.623000	0.88846	0.585000	0.79938	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	0		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				139	134		455	452	1		1	0		0	0	111	0		1	1	0	0	0	249	0	139	455
EFEMP1	2202	broad.mit.edu	37	2	56094325	56094325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000394554.1_Silent_p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	455	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1363-1365)ttA>ttG		EGF containing fibulin-like extracellular matrix protein 1							108.0	90.0	96.0					2																	56094325		2203	4300	6503	SO:0001819	synonymous_variant	2202	1	121410	30				g.chr2:56094325T>C	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1365A>G	chr2.hg19:g.56094325T>C		1					EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L	p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	1	2	3	2.183349	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	11	1800	-			A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	1	1	hg19	c.1365A>G	CCDS1857.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				93	91		275	273	1		1	0		0	0	57	0		1	1	0	0	0	343	0	93	275
EFEMP1	2202	broad.mit.edu	37	2	56098049	56098049	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000424836.2_Splice_Site_p.R238*|EFEMP1_ENST00000355426.3_Splice_Site_p.R376*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	376	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1126-1128)Cga>Tga		EGF containing fibulin-like extracellular matrix protein 1							74.0	77.0	76.0					2																	56098049		2203	4300	6503	SO:0001630	splice_region_variant	2202	0	0					g.chr2:56098049G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1125-1C>T	chr2.hg19:g.56098049G>A		1					EFEMP1_ENST00000355426.3_Splice_Site_p.R376*|EFEMP1_ENST00000424836.2_Splice_Site_p.R238*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*	p.R376*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	1	2	3	2.183349	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	10	1561	-			A8K3I4|B4DW75|D6W5D2|Q541U7	Splice_Site	SNP	ENST00000394555.2	0	0	hg19	c.1126C>T	CCDS1857.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.821538	0.97865	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;232;238;376	.	ENSP00000347596:R376X	R	-	1	2	2	EFEMP1	55951553	55951553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.939000	0.87685	2.824000	0.97209	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1		2	2	2	0		0	0	63		63	60	1	2.060000	-7.666535	1	0.170000		Nonsense_Mutation		99	100		241	234	1		1	0		0	0	63	0		1	1	0	0	0	440	0	99	241
EFEMP1	2202	broad.mit.edu	37	2	56144918	56144918	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000394554.1_Silent_p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	133					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(397-399)ggC>ggT		EGF containing fibulin-like extracellular matrix protein 1							60.0	58.0	59.0					2																	56144918		2203	4300	6503	SO:0001819	synonymous_variant	2202	0	0					g.chr2:56144918G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.399C>T	chr2.hg19:g.56144918G>A		1					EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G	p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	1	2	3	2.183349	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	4	834	-			A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	1	1	hg19	c.399C>T	CCDS1857.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	0		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				105	105		316	313	1		1	0		0	0	88	0		1	1	0	0	0	288	0	105	316
EFEMP1	2202	broad.mit.edu	37	2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	120					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(358-360)gCc>gTc		EGF containing fibulin-like extracellular matrix protein 1							56.0	55.0	55.0					2																	56144958		2203	4300	6503	SO:0001583	missense	2202	0	0					g.chr2:56144958G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.359C>T	chr2.hg19:g.56144958G>A	ENSP00000378058:p.Ala120Val	1					EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	1	2	3	2.183349	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	4	794	-			A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	1	1	hg19	c.359C>T	CCDS1857.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306055	0.81247	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83755	-1.76;-1.76;-1.28;-1.76;-1.18	4.58	3.69	0.42338	4.58	3.69	0.42338	.	0.000000	0.47852	D	0.000203	T	0.61085	0.2319	N	0.08118	0	0.24765	N	0.992903	B;B	0.18310	0.027;0.002	B;B	0.11329	0.006;0.003	T	0.44832	-0.9302	10	0.13470	T	0.59	.	6.5096	0.22214	0.0963:0.1837:0.72:0.0	.	62;120	B4DW75;Q12805	.;FBLN3_HUMAN	V	120;120;62;120;120	ENSP00000378058:A120V;ENSP00000378057:A120V;ENSP00000399145:A62V;ENSP00000347596:A120V;ENSP00000392055:A120V	ENSP00000347596:A120V	A	-	2	0	0	EFEMP1	55998462	55998462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	1.522000	0.49001	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	0		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				81	79		376	369	1		1	0		0	0	71	0		1	1	0	1	0	285	0	81	376
CCDC85A	114800	broad.mit.edu	37	2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687																																						ENST00000407595.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(676-678)aaG>aaT		coiled-coil domain containing 85A							25.0	35.0	32.0					2																	56420013		2177	4274	6451	SO:0001583	missense	114800	0	0					g.chr2:56420013G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.678G>T	chr2.hg19:g.56420013G>T	ENSP00000384040:p.Lys226Asn	1					RP11-482H16.1_ENST00000607540.1_RNA	p.K226N	NM_001080433.1	NP_001073902.1	1	2	3	2.183349	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	2	1180	+				Missense_Mutation	SNP	ENST00000407595.2	1	1	hg19	c.678G>T	CCDS46290.1	1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663758	0.47572	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	1.86	0.25419	5.18	1.86	0.25419	.	0.250691	0.45867	D	0.000333	T	0.34571	0.0902	L	0.29908	0.895	0.80722	D	1	P	0.36027	0.533	B	0.34590	0.186	T	0.04976	-1.0914	9	0.22706	T	0.39	0.196	8.7085	0.34369	0.4288:0.0:0.5712:0.0	.	226	Q96PX6	CC85A_HUMAN	N	226	.	ENSP00000384040:K226N	K	+	3	2	2	CCDC85A	56273517	56273517	0.997000	0.39634	0.993000	0.49108	0.898000	0.52572	0.477000	0.22196	0.554000	0.29061	0.655000	0.94253	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000				70	68		250	246	1		1			0	0	63	0		1	0	0	0	0	0	0	70	250
CCDC85A	114800	broad.mit.edu	37	2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637																																						ENST00000407595.2	1.000000	0.590000	9.400000e-01	6.900000e-01	0.810000	0.820895	0.810000	1.000000																										0				38						c.(898-900)aGc>aTc		coiled-coil domain containing 85A							60.0	75.0	70.0					2																	56420234		2055	4196	6251	SO:0001583	missense	114800	0	0					g.chr2:56420234G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.899G>T	chr2.hg19:g.56420234G>T	ENSP00000384040:p.Ser300Ile	1					RP11-482H16.1_ENST00000607540.1_RNA	p.S300I	NM_001080433.1	NP_001073902.1	1	2	3	2.183349	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	2	1401	+				Missense_Mutation	SNP	ENST00000407595.2	1	1	hg19	c.899G>T	CCDS46290.1	0	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148388	0.37923	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.35	4.47	0.54385	5.35	4.47	0.54385	.	0.425405	0.29053	N	0.013291	T	0.39009	0.1062	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	B	0.41619	0.361	T	0.28902	-1.0029	10	0.49607	T	0.09	-47.9685	14.0689	0.64849	0.073:0.0:0.927:0.0	.	300	Q96PX6	CC85A_HUMAN	I	300	ENSP00000384040:S300I	ENSP00000384040:S300I	S	+	2	0	0	CCDC85A	56273738	56273738	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	5.460000	0.66691	1.260000	0.44134	0.591000	0.81541	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-8.774224	1	0.170000				42	41		617	613	0		1	0		0	0	115	0		1	1.238435e-02	0	0	0	3	0	42	617
CCDC85A	114800	broad.mit.edu	37	2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642																																						ENST00000407595.2	1.000000	0.600000	9.700000e-01	7.100000e-01	0.830000	0.838693	0.830000	1.000000																										0				38						c.(943-945)Gaa>Taa		coiled-coil domain containing 85A							60.0	70.0	67.0					2																	56420278		2030	4185	6215	SO:0001587	stop_gained	114800	0	0					g.chr2:56420278G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.943G>T	chr2.hg19:g.56420278G>T	ENSP00000384040:p.Glu315*	1					RP11-482H16.1_ENST00000607540.1_RNA	p.E315*	NM_001080433.1	NP_001073902.1	1	2	3	2.183349	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)	2	1445	+				Nonsense_Mutation	SNP	ENST00000407595.2	0	1	hg19	c.943G>T	CCDS46290.1	0	.	.	.	.	.	.	.	.	.	.	G	43	10.239125	0.99366	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2501	19.0598	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000384040:E315X	E	+	1	0	0	CCDC85A	56273782	56273782	1.000000	0.71417	0.115000	0.21578	0.935000	0.57460	6.664000	0.74437	2.507000	0.84556	0.591000	0.81541	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	0		2	2	2	0		0	0	101		101	101	1	2.060000	-8.630281	1	0.170000				39	37		558	554	0		1	0		0	0	101	0		1	2.481733e-02	0	0	0	4	0	39	558
BCL11A	53335	broad.mit.edu	37	2	60688136	60688136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000356842.4_Silent_p.K637K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	637					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)			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)			CCTTCTCGAGCTTGATGCGCT	0.687			T	IGH@	B-CLL																																	ENST00000335712.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p13	2p13	53335	T	B-cell CLL/lymphoma 11A				L	L	IGH@		B-CLL		0				59						c.(1909-1911)aaG>aaA		B-cell CLL/lymphoma 11A (zinc finger protein)							22.0	25.0	24.0					2																	60688136		2198	4299	6497	SO:0001819	synonymous_variant	53335	0	0					g.chr2:60688136C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1911G>A	chr2.hg19:g.60688136C>T		1					BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.K637K	p.K637K	NM_022893.3	NP_075044.2	1	2	3	2.183349	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)	4	2138	-			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	1	1	hg19	c.1911G>A	CCDS1862.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_022893			74	74		261	253	0		1	0		0	0	46	0		1	0	0	0	0	1	0	74	261
BCL11A	53335	broad.mit.edu	37	2	60688595	60688595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000356842.4_Silent_p.D484D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	484	Glu-rich.				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)			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)			cttcctcctcgtccccgttct	0.632			T	IGH@	B-CLL																																	ENST00000335712.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p13	2p13	53335	T	B-cell CLL/lymphoma 11A				L	L	IGH@		B-CLL		0				59						c.(1450-1452)gaC>gaT		B-cell CLL/lymphoma 11A (zinc finger protein)							17.0	17.0	17.0					2																	60688595		2201	4295	6496	SO:0001819	synonymous_variant	53335	1	121374	29				g.chr2:60688595G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1452C>T	chr2.hg19:g.60688595G>A		1					BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.D484D	p.D484D	NM_022893.3	NP_075044.2	1	2	3	2.183349	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)	4	1679	-			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	1	1	hg19	c.1452C>T	CCDS1862.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_022893			34	34		98	98	1		1	0		0	0	22	0		1	6.965174e-02	0	0	0	2	0	34	98
REL	5966	broad.mit.edu	37	2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	257	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408			A		Hodgkin Lymphoma																																	ENST00000295025.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		2	2p13-p12	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)				L	L			Hodgkin Lymphoma		0				16						c.(769-771)Gta>Ata		v-rel avian reticuloendotheliosis viral oncogene homolog							117.0	115.0	115.0					2																	61145657		2203	4300	6503	SO:0001583	missense	5966	2	121412	40				g.chr2:61145657G>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.769G>A	chr2.hg19:g.61145657G>A	ENSP00000295025:p.Val257Ile	1					REL_ENST00000394479.3_Missense_Mutation_p.V257I	p.V257I	NM_002908.2	NP_002899.1	1	2	3	2.183349	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)	7	1089	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	1	1	hg19	c.769G>A	CCDS1864.1	1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575881	0.45902	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	5.78	5.78	0.91487	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055514	0.64402	D	0.000001	T	0.41373	0.1156	L	0.48935	1.535	0.48571	D	0.999678	P;P	0.34864	0.473;0.473	B;B	0.17722	0.019;0.019	T	0.34329	-0.9833	10	0.38643	T	0.18	-1.8014	12.7968	0.57564	0.1158:0.0:0.8842:0.0	.	257;257	Q17RU2;Q04864	.;REL_HUMAN	I	257	ENSP00000295025:V257I;ENSP00000377989:V257I	ENSP00000295025:V257I	V	+	1	0	0	REL	60999161	60999161	1.000000	0.71417	0.711000	0.30485	0.846000	0.48090	3.530000	0.53539	2.730000	0.93505	0.655000	0.94253	GTA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_002908			164	160		439	431	1		1	1		0	0	84	0		1	9.997941e-01	0	17	0	19	0	164	439
PEX13	5194	broad.mit.edu	37	2	61258998	61258998	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.5	+	2	575	c.537T>A	c.(535-537)ttT>ttA	p.F179L	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	179	Interaction with PEX19.|Targeting to peroxisomes.				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)				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)			CAAAAGTGTTTTCAGCTTTTG	0.413																																						ENST00000295030.5	0.430000	0.150000	3.500000e-01	2.000000e-01	0.270000	0.284337	0.270000	0.270000																										0				10						c.(535-537)ttT>ttA		peroxisomal biogenesis factor 13							123.0	121.0	122.0					2																	61258998		2203	4300	6503	SO:0001583	missense	5194	0	0					g.chr2:61258998T>A	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.537T>A	chr2.hg19:g.61258998T>A	ENSP00000295030:p.Phe179Leu	1					PEX13_ENST00000472678.1_3'UTR	p.F179L	NM_002618.3	NP_002609.1	1	2	3	2.183349	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)	2	575	+			B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	0	1	hg19	c.537T>A	CCDS1866.1	0	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425331	0.25639	.	.	ENSG00000162928	ENST00000295030	T	0.70749	-0.51	5.85	3.48	0.39840	5.85	3.48	0.39840	Peroxin 13, N-terminal (1);	0.050181	0.85682	D	0.000000	T	0.44008	0.1273	N	0.05383	-0.06	0.80722	D	1	B	0.18461	0.028	B	0.24701	0.055	T	0.32771	-0.9894	10	0.02654	T	1	-20.9736	8.4584	0.32912	0.0:0.21:0.0:0.79	.	179	Q92968	PEX13_HUMAN	L	179	ENSP00000295030:F179L	ENSP00000295030:F179L	F	+	3	2	2	PEX13	61112502	61112502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.914000	0.28624	0.472000	0.27344	0.533000	0.62120	TTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	0	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-11.477930	1	0.170000	NM_002618			15	15		698	690	0		1	0		0	0	95	0		9.998582e-01	7.739810e-01	0	1	0	132	0	15	698
KIAA1841	84542	broad.mit.edu	37	2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383																																						ENST00000402291.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(517-519)Atg>Gtg		KIAA1841							90.0	93.0	92.0					2																	61304140		2203	4300	6503	SO:0001583	missense	84542	0	0					g.chr2:61304140A>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.517A>G	chr2.hg19:g.61304140A>G	ENSP00000385579:p.Met173Val	1					KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V	p.M173V	NM_001129993.1	NP_001123465.1	1	2	3	2.183349	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)	6	758	+			Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	1	1	hg19	c.517A>G	CCDS46296.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473755	0.84640	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.61710	-0.7007	10	0.87932	D	0	-20.5762	16.013	0.80417	1.0:0.0:0.0:0.0	.	173;173;173	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	173	ENSP00000385579:M173V;ENSP00000295031:M173V;ENSP00000349154:M173V;ENSP00000416795:M173V	ENSP00000295031:M173V	M	+	1	0	0	KIAA1841	61157644	61157644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	ATG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_032506			91	91		458	451	1		1	1		0	0	94	0		1	9.232892e-01	0	10	0	14	0	91	458
KIAA1841	84542	broad.mit.edu	37	2	61336419	61336419	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	ENST00000402291.1	+	16	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	578										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAGAAGTATCCAAGAAACA	0.353																																						ENST00000402291.1	0.490000	0.150000	3.900000e-01	2.100000e-01	0.290000	0.308643	0.290000	0.280000																										0				25						c.(1732-1734)Tcc>Ccc		KIAA1841							91.0	99.0	97.0					2																	61336419		2203	4300	6503	SO:0001583	missense	84542	0	0					g.chr2:61336419T>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1732T>C	chr2.hg19:g.61336419T>C	ENSP00000385579:p.Ser578Pro	1					KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P	p.S578P	NM_001129993.1	NP_001123465.1	1	2	3	2.183349	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)	16	1973	+			Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	0	1	hg19	c.1732T>C	CCDS46296.1	0	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573965	0.45902	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.5	-1.11	0.09840	5.5	-1.11	0.09840	.	0.235442	0.43919	D	0.000513	T	0.38612	0.1047	L	0.56769	1.78	0.36252	D	0.853974	P;P	0.42993	0.797;0.472	B;B	0.41135	0.348;0.132	T	0.41395	-0.9511	10	0.45353	T	0.12	-3.3521	7.2753	0.26281	0.2444:0.0:0.2038:0.5518	.	578;578	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	P	578	ENSP00000385579:S578P;ENSP00000295031:S578P;ENSP00000349154:S578P;ENSP00000416795:S578P	ENSP00000295031:S578P	S	+	1	0	0	KIAA1841	61189923	61189923	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.045000	0.41250	0.005000	0.14708	0.477000	0.44152	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	0	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-2.902269	1	0.170000	NM_032506			11	10		480	469	0		1	0		0	0	121	0		9.981272e-01	4.054156e-02	0	0	0	13	0	11	480
KIAA1841	84542	broad.mit.edu	37	2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383																																						ENST00000402291.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1765-1767)Aag>Cag		KIAA1841							107.0	114.0	112.0					2																	61343134		2203	4300	6503	SO:0001583	missense	84542	0	0					g.chr2:61343134A>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1765A>C	chr2.hg19:g.61343134A>C	ENSP00000385579:p.Lys589Gln	1					KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q	p.K589Q	NM_001129993.1	NP_001123465.1	1	2	3	2.183349	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)	17	2006	+			Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	1	1	hg19	c.1765A>C	CCDS46296.1	1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863708	0.71949	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.166361	0.56097	D	0.000040	T	0.46946	0.1419	M	0.64997	1.995	0.50632	D	0.999884	D;P	0.54601	0.967;0.905	P;P	0.50490	0.642;0.462	T	0.46679	-0.9174	10	0.48119	T	0.1	-12.7431	15.3031	0.73969	1.0:0.0:0.0:0.0	.	589;589	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	Q	589	ENSP00000385579:K589Q;ENSP00000295031:K589Q;ENSP00000349154:K589Q;ENSP00000416795:K589Q	ENSP00000295031:K589Q	K	+	1	0	0	KIAA1841	61196638	61196638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.388000	0.73195	2.151000	0.67156	0.460000	0.39030	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_032506			64	61		229	224	1		1	1		0	0	64	0		1	8.100531e-01	0	4	0	9	0	64	229
KIAA1841	84542	broad.mit.edu	37	2	61344641	61344641	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343																																						ENST00000402291.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1903-1905)tcC>tcA		KIAA1841							148.0	149.0	148.0					2																	61344641		2203	4300	6503	SO:0001819	synonymous_variant	84542	0	0					g.chr2:61344641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1905C>A	chr2.hg19:g.61344641C>A		1					KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S	p.S635S	NM_001129993.1	NP_001123465.1	1	2	3	2.183349	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)	19	2146	+			Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	1	1	hg19	c.1905C>A	CCDS46296.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.799230	1	0.170000	NM_032506			70	69		346	343	1		1	1		0	0	48	0		1	6.703817e-01	0	4	0	9	0	70	346
USP34	9736	broad.mit.edu	37	2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	559					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)			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)			CCTGCATGGATTCCTGTATTT	0.378																																						ENST00000398571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(1675-1677)gaA>gaC		ubiquitin specific peptidase 34							99.0	94.0	95.0					2																	61575613		1911	4135	6046	SO:0001583	missense	9736	0	0					g.chr2:61575613T>G	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.1677A>C	chr2.hg19:g.61575613T>G	ENSP00000381577:p.Glu559Asp	1						p.E559D	NM_014709.3	NP_055524.3	1	2	3	2.183349	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)	15	1753	-			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	1	1	hg19	c.1677A>C	CCDS42686.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293336	0.80914	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03889	3.77	6.07	2.41	0.29592	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.36672	1.1	0.47094	D	0.99931	B	0.32918	0.39	B	0.32211	0.142	T	0.51849	-0.8653	10	0.22109	T	0.4	.	10.0399	0.42151	0.0:0.1917:0.0:0.8083	.	559	Q70CQ2	UBP34_HUMAN	D	407;407;559	ENSP00000381577:E559D	ENSP00000263989:E407D	E	-	3	2	2	USP34	61429117	61429117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.796000	0.26986	0.548000	0.28955	0.528000	0.53228	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				116	111		512	503	1		1	1		0	0	83	0		1	9.999959e-01	0	18	0	61	0	116	512
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q|XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL																																	ENST00000401558.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			-'	Dom	yes		-'	Dom	yes		2	2p15	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""				L	L			CLL		1	Substitution - Missense(1)	p.R749Q(1)	large_intestine(1)	39						c.(2245-2247)cGa>cAa		exportin 1							145.0	142.0	143.0					2																	61715367		2203	4300	6503	SO:0001583	missense	7514	0	0					g.chr2:61715367C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	chr2.hg19:g.61715367C>T	ENSP00000384863:p.Arg749Gln	1					XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	p.R749Q	NM_003400.3	NP_003391.1	1	2	3	2.183349	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)	19	2973	-			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	1	1	hg19	c.2246G>A	CCDS33205.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	0	XPO1	61568871	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_003400			79	77		499	490	1		1	1		0	0	115	0		1	1	0	55	0	269	0	79	499
FAM161A	84140	broad.mit.edu	37	2	62066556	62066556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000405894.3	-	3	1684	c.1583G>T	c.(1582-1584)aGa>aTa	p.R528I	FAM161A_ENST00000404929.1_Splice_Site_p.R528M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	528					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)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463																																						ENST00000405894.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1582-1584)aGa>aTa		family with sequence similarity 161, member A							71.0	74.0	73.0					2																	62066556		1960	4152	6112	SO:0001630	splice_region_variant	84140	0	0					g.chr2:62066556C>A		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.1583+1G>T	chr2.hg19:g.62066556C>A		1					FAM161A_ENST00000404929.1_Splice_Site_p.R528M	p.R528I	NM_032180.2	NP_115556.2	1	2	3	2.183349	Q3B820	F161A_HUMAN		3	1684	-			B4DJV7|Q9H8R2	Splice_Site	SNP	ENST00000405894.3	1	0	hg19	c.1583G>T	CCDS42687.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119840|4.119840	0.77323|0.77323	.|.	.|.	ENSG00000170264|ENSG00000170264	ENST00000405894|ENST00000404929	T|T	0.25912|0.26067	1.77|1.76	5.8|5.8	5.8|5.8	0.92144|0.92144	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.60495|0.60495	-0.7252|-0.7252	9|9	.|.	.|.	.|.	.|.	19.6789|19.6789	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|528	Q3B820|Q3B820-3	F161A_HUMAN|.	I|M	528|528	ENSP00000385893:R528I|ENSP00000385158:R528M	.|.	R|R	-|-	2|2	0|0	0|0	FAM161A|FAM161A	61920060|61920060	61920060|61920060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	6.295000|6.295000	0.72744|0.72744	2.736000|2.736000	0.93811|0.93811	0.643000|0.643000	0.83706|0.83706	AGA|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	1		2	2	2	0		0	0	56		56	50	1	2.060000	-2.759859	1	0.170000	NM_032180	Missense_Mutation		64	59		290	274	1		1	0		0	0	56	0		1	8.377964e-01	0	0	0	17	0	64	290
FAM161A	84140	broad.mit.edu	37	2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000405894.3	-	3	1171	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000404929.1_Missense_Mutation_p.A357V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	357					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)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418																																						ENST00000405894.3	1.000000	0.830000	1	9.400000e-01	0.990000	0.979618	0.990000	1.000000																										0				25						c.(1069-1071)gCc>gTc		family with sequence similarity 161, member A							121.0	117.0	118.0					2																	62067069		1863	4109	5972	SO:0001583	missense	84140	0	0					g.chr2:62067069G>A		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.1070C>T	chr2.hg19:g.62067069G>A	ENSP00000385893:p.Ala357Val	1					FAM161A_ENST00000404929.1_Missense_Mutation_p.A357V	p.A357V	NM_032180.2	NP_115556.2	1	2	3	2.183349	Q3B820	F161A_HUMAN		3	1171	-			B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	1	1	hg19	c.1070C>T	CCDS42687.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.304321	0.95601	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.050451	0.85682	D	0.000000	T	0.70518	0.3233	M	0.85373	2.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.9161	19.3967	0.94610	0.0:0.0:1.0:0.0	.	357;357	Q3B820;Q3B820-3	F161A_HUMAN;.	V	357	ENSP00000385158:A357V;ENSP00000385893:A357V	ENSP00000385158:A357V	A	-	2	0	0	FAM161A	61920573	61920573	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.973000	0.93428	2.665000	0.90641	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-16.668230	1	0.170000	NM_032180			70	68		771	762	0		1	0		0	0	105	0		1	2.041351e-01	0	1	0	9	0	70	771
FAM161A	84140	broad.mit.edu	37	2	62067278	62067278	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000405894.3	-	3	962	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000404929.1_Silent_p.V287V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	287					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)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403																																						ENST00000405894.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(859-861)gtT>gtA		family with sequence similarity 161, member A							161.0	150.0	153.0					2																	62067278		1843	4090	5933	SO:0001819	synonymous_variant	84140	0	0					g.chr2:62067278A>T		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.861T>A	chr2.hg19:g.62067278A>T		1					FAM161A_ENST00000404929.1_Silent_p.V287V	p.V287V	NM_032180.2	NP_115556.2	1	2	3	2.183349	Q3B820	F161A_HUMAN		3	962	-			B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	1	1	hg19	c.861T>A	CCDS42687.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	1		2	2	2	0		0	0	139		139	133	1	2.060000	-20.000000	1	0.170000	NM_032180			155	153		792	766	1		1	1		0	0	139	0		1	8.410696e-01	0	5	0	14	0	155	792
COMMD1	150684	broad.mit.edu	37	2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T|COMMD1_ENST00000472729.1_Intron	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	17					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692																																						ENST00000311832.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(49-51)aAt>aCt		copper metabolism (Murr1) domain containing 1							21.0	24.0	23.0					2																	62132863		2203	4300	6503	SO:0001583	missense	150684	0	0					g.chr2:62132863A>C	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.50A>C	chr2.hg19:g.62132863A>C	ENSP00000308236:p.Asn17Thr	1					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	p.N17T	NM_152516.2	NP_689729.1	1	2	3	2.183349	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)	1	82	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	1	1	hg19	c.50A>C	CCDS1869.1	1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099746	0.20552	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.10573	2.86;2.86	5.6	-3.72	0.04411	5.6	-3.72	0.04411	.	0.441952	0.26927	N	0.021794	T	0.10723	0.0262	L	0.61218	1.895	0.24354	N	0.994901	B	0.25486	0.127	B	0.36418	0.224	T	0.29971	-0.9994	10	0.72032	D	0.01	.	2.5888	0.04837	0.4597:0.1174:0.3032:0.1197	.	17	Q8N668	COMD1_HUMAN	T	17	ENSP00000308236:N17T;ENSP00000438961:N17T	ENSP00000308236:N17T	N	+	2	0	0	COMMD1	61986367	61986367	0.923000	0.31300	0.114000	0.21550	0.008000	0.06430	-0.100000	0.10990	-0.831000	0.04256	-0.912000	0.02778	AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_152516			33	32		64	63	1		1	1		0	0	25	0		1	1	0	88	0	168	0	33	64
B3GNT2	10678	broad.mit.edu	37	2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	68					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512																																						ENST00000301998.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(202-204)Cgg>Tgg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							192.0	222.0	212.0					2																	62449557		2203	4300	6503	SO:0001583	missense	10678	4	121412	41				g.chr2:62449557C>T	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.202C>T	chr2.hg19:g.62449557C>T	ENSP00000305595:p.Arg68Trp	1					B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	p.R68W	NM_006577.5	NP_006568.2	1	2	3	2.183349	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)	2	454	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	1	1	hg19	c.202C>T	CCDS1870.1	1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913331	0.17907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.29655	1.56;1.56	5.75	1.85	0.25348	5.75	1.85	0.25348	.	0.860794	0.10728	N	0.640914	T	0.33904	0.0879	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38607	-0.9653	10	0.66056	D	0.02	.	15.42	0.75003	0.462:0.538:0.0:0.0	.	68	Q9NY97	B3GN2_HUMAN	W	68	ENSP00000305595:R68W;ENSP00000384692:R68W	ENSP00000305595:R68W	R	+	1	2	2	B3GNT2	62303061	62303061	0.000000	0.05858	0.449000	0.26957	0.907000	0.53573	-0.074000	0.11450	0.431000	0.26258	-0.262000	0.10625	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	1	0	1		2	3	2	1		1	0	395		395	388	1	2.060000	-17.228290	1	0.170000	NM_006577			610	604		1672	1645	1		1	1		1	0	395	0		1	1	0	53	0	95	0	610	1672
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68					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)			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)					CATCTTCATGCGGGAGGAGGT	0.662																																						ENST00000282549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(202-204)Cgg>Tgg		orthodenticle homeobox 1							82.0	81.0	82.0					2																	63281286		2203	4300	6503	SO:0001583	missense	5013	0	0					g.chr2:63281286C>T		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.202C>T	chr2.hg19:g.63281286C>T	ENSP00000282549:p.Arg68Trp	1					OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	p.R68W	NM_014562.3	NP_055377.1	1	2	3	2.183349	P32242	OTX1_HUMAN		4	478	+	Lung NSC(7;0.121)|all_lung(7;0.211)		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	1	1	hg19	c.202C>T	CCDS1873.1	1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	2	OTX1	63134790	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.299891	1	0.170000				114	113		483	475	1		1	1		0	0	102	0		1	4.711229e-01	0	3	0	5	0	114	483
OTX1	5013	broad.mit.edu	37	2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	131					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)			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)					ACGCCGCCAGCTGTGTCCAGC	0.677																																						ENST00000282549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(391-393)gCt>gAt		orthodenticle homeobox 1							39.0	40.0	40.0					2																	63282778		2203	4300	6503	SO:0001583	missense	5013	0	0					g.chr2:63282778C>A		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.392C>A	chr2.hg19:g.63282778C>A	ENSP00000282549:p.Ala131Asp	1					OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	p.A131D	NM_014562.3	NP_055377.1	1	2	3	2.183349	P32242	OTX1_HUMAN		5	668	+	Lung NSC(7;0.121)|all_lung(7;0.211)		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	1	1	hg19	c.392C>A	CCDS1873.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838312	0.71373	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90676	-2.71;-2.71	3.69	3.69	0.42338	3.69	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.54323	1.7	0.58432	D	0.999999	P	0.42757	0.789	B	0.42882	0.401	D	0.88174	0.2866	10	0.35671	T	0.21	.	14.6986	0.69139	0.0:1.0:0.0:0.0	.	131	P32242	OTX1_HUMAN	D	131	ENSP00000355631:A131D;ENSP00000282549:A131D	ENSP00000282549:A131D	A	+	2	0	0	OTX1	63136282	63136282	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.706000	0.61845	2.062000	0.61559	0.563000	0.77884	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				87	85		269	265	1		1	1		0	0	49	0		1	9.099770e-01	0	11	0	4	0	87	269
OTX1	5013	broad.mit.edu	37	2	63283061	63283061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	225					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)			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)					CCATGTCCTACGGCCAGGGCG	0.652																																						ENST00000282549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(673-675)taC>taT		orthodenticle homeobox 1							38.0	39.0	39.0					2																	63283061		2203	4300	6503	SO:0001819	synonymous_variant	5013	0	0					g.chr2:63283061C>T		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.675C>T	chr2.hg19:g.63283061C>T		1					OTX1_ENST00000366671.3_Silent_p.Y225Y	p.Y225Y	NM_014562.3	NP_055377.1	1	2	3	2.183349	P32242	OTX1_HUMAN		5	951	+	Lung NSC(7;0.121)|all_lung(7;0.211)		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	1	1	hg19	c.675C>T	CCDS1873.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				105	102		337	334	1		1	0		0	0	74	0		1	2.433912e-01	0	1	0	3	0	105	337
OTX1	5013	broad.mit.edu	37	2	63283199	63283199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	271					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)			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)					CACCCTCCTCCATGGCGGGCC	0.637																																						ENST00000282549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(811-813)tcC>tcA		orthodenticle homeobox 1							135.0	119.0	124.0					2																	63283199		2203	4300	6503	SO:0001819	synonymous_variant	5013	0	0					g.chr2:63283199C>A		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.813C>A	chr2.hg19:g.63283199C>A		1					OTX1_ENST00000366671.3_Silent_p.S271S	p.S271S	NM_014562.3	NP_055377.1	1	2	3	2.183349	P32242	OTX1_HUMAN		5	1089	+	Lung NSC(7;0.121)|all_lung(7;0.211)		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	1	1	hg19	c.813C>A	CCDS1873.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1		2	2	2	0		0	0	155		155	150	1	2.060000	-6.920111	1	0.170000				255	245		791	760	1		1	1		0	0	155	0		1	9.108506e-01	0	4	0	11	0	255	791
UGP2	7360	broad.mit.edu	37	2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000337130.5	+	4	784	c.308C>T	c.(307-309)tCc>tTc	p.S103F	UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	103					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)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403																																						ENST00000337130.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(307-309)tCc>tTc		UDP-glucose pyrophosphorylase 2							107.0	113.0	111.0					2																	64109652		2203	4300	6503	SO:0001583	missense	7360	0	0					g.chr2:64109652C>T		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.308C>T	chr2.hg19:g.64109652C>T	ENSP00000338703:p.Ser103Phe	1					UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F	p.S103F	NM_006759.3	NP_006750.3	1	2	3	2.183349	Q16851	UGPA_HUMAN		4	784	+			Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	1	1	hg19	c.308C>T	CCDS1875.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337641	0.81911	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.270254	0.42682	D	0.000663	T	0.34424	0.0897	L	0.61036	1.89	0.80722	D	1	P;P	0.41710	0.76;0.64	P;P	0.45474	0.482;0.482	T	0.04579	-1.0941	10	0.72032	D	0.01	-6.8018	19.9915	0.97366	0.0:1.0:0.0:0.0	.	112;103	E7EUC7;Q16851	.;UGPA_HUMAN	F	92;92;92;103;92;95;112;92;92;92	ENSP00000377939:S92F;ENSP00000419548:S92F;ENSP00000420793:S92F;ENSP00000338703:S103F;ENSP00000419442:S92F;ENSP00000420131:S95F;ENSP00000411803:S112F;ENSP00000419335:S92F;ENSP00000420342:S92F;ENSP00000419238:S92F	ENSP00000338703:S103F	S	+	2	0	0	UGP2	63963156	63963156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.723000	0.93209	0.655000	0.94253	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.075879	1	0.170000	NM_006759			90	90		527	519	1		1	1		0	0	102	0		1	1	0	65	0	365	0	90	527
AFTPH	54812	broad.mit.edu	37	2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000422803.1	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	138					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			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						AATAAAGTAGTGGAGCAGAGA	0.358																																						ENST00000422803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(412-414)gTg>gGg		aftiphilin							40.0	42.0	41.0					2																	64779021		2203	4297	6500	SO:0001583	missense	54812	0	0					g.chr2:64779021T>G	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.413T>G	chr2.hg19:g.64779021T>G	ENSP00000397726:p.Val138Gly	1					AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G	p.V138G			1	2	3	2.183349	Q6ULP2	AFTIN_HUMAN		2	727	+			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	1	1	hg19	c.413T>G		1	.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917286	0.02415	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	1.38	0.22167	5.35	1.38	0.22167	.	1.620940	0.03161	N	0.169284	T	0.20659	0.0497	N	0.16478	0.41	0.09310	N	0.999995	B;B;P;P	0.42203	0.001;0.001;0.773;0.773	B;B;B;B	0.41894	0.001;0.002;0.369;0.369	T	0.11372	-1.0590	10	0.38643	T	0.18	6.6229	2.3047	0.04171	0.2423:0.0768:0.1397:0.5412	.	138;138;138;138	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	138	ENSP00000238856:V138G;ENSP00000397726:V138G;ENSP00000238855:V138G;ENSP00000387071:V138G	ENSP00000238855:V138G	V	+	2	0	0	AFTPH	64632525	64632525	0.906000	0.30813	0.039000	0.18376	0.810000	0.45777	0.543000	0.23237	0.422000	0.26005	0.482000	0.46254	GTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_017657			57	56		306	303	1		1	1		0	0	72	0		1	1	0	33	0	105	0	57	306
AFTPH	54812	broad.mit.edu	37	2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000422803.1	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	333					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			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						TTCAGTCAAAGGCTTGGAGTT	0.383																																						ENST00000422803.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(997-999)aaG>aaT		aftiphilin							99.0	103.0	102.0					2																	64779607		2203	4300	6503	SO:0001583	missense	54812	0	0					g.chr2:64779607G>T	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.999G>T	chr2.hg19:g.64779607G>T	ENSP00000397726:p.Lys333Asn	1					AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N	p.K333N			1	2	3	2.183349	Q6ULP2	AFTIN_HUMAN		2	1313	+			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	1	1	hg19	c.999G>T		1	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457507	0.04508	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.47	3.55	0.40652	4.47	3.55	0.40652	.	0.943333	0.08875	N	0.880981	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26809	0.001;0.001;0.001;0.16	B;B;B;B	0.24701	0.001;0.001;0.001;0.055	T	0.31392	-0.9945	10	0.17832	T	0.49	1.9068	3.7104	0.08417	0.1505:0.0:0.5355:0.314	.	333;333;333;333	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	N	333	ENSP00000238856:K333N;ENSP00000397726:K333N;ENSP00000238855:K333N;ENSP00000387071:K333N	ENSP00000238855:K333N	K	+	3	2	2	AFTPH	64633111	64633111	0.986000	0.35501	0.317000	0.25265	0.965000	0.64279	1.792000	0.38754	1.405000	0.46838	0.585000	0.79938	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_017657			72	71		487	477	1		1	1		0	0	103	0		1	9.999871e-01	0	19	0	90	0	72	487
SERTAD2	9792	broad.mit.edu	37	2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	214					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567																																						ENST00000313349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(640-642)aGc>aTc		SERTA domain containing 2							66.0	69.0	68.0					2																	64863365		2203	4300	6503	SO:0001583	missense	9792	0	0					g.chr2:64863365C>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.641G>T	chr2.hg19:g.64863365C>A	ENSP00000326933:p.Ser214Ile	1					SERTAD2_ENST00000476805.2_5'Flank	p.S214I	NM_014755.2	NP_055570.1	1	2	3	2.183349	Q14140	SRTD2_HUMAN		2	938	-			Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	1	1	hg19	c.641G>T	CCDS33210.1	1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883156	0.17467	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.574803	0.20833	N	0.084854	T	0.46367	0.1389	L	0.27053	0.805	0.51482	D	0.999923	B	0.34103	0.437	B	0.23852	0.049	T	0.48917	-0.8992	9	0.56958	D	0.05	0.7719	19.6719	0.95915	0.0:1.0:0.0:0.0	.	214	Q14140	SRTD2_HUMAN	I	214	.	ENSP00000326933:S214I	S	-	2	0	0	SERTAD2	64716869	64716869	0.996000	0.38824	0.995000	0.50966	0.285000	0.27093	2.509000	0.45459	2.647000	0.89833	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_014755			105	104		446	439	1		1	1		0	0	83	0		1	9.999920e-01	0	13	0	60	0	105	446
SERTAD2	9792	broad.mit.edu	37	2	64863673	64863673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	111					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692																																						ENST00000313349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(331-333)gcG>gcA		SERTA domain containing 2							33.0	36.0	35.0					2																	64863673		2203	4299	6502	SO:0001819	synonymous_variant	9792	3	121364	30				g.chr2:64863673C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.333G>A	chr2.hg19:g.64863673C>T		1					SERTAD2_ENST00000476805.2_5'UTR	p.A111A	NM_014755.2	NP_055570.1	1	2	3	2.183349	Q14140	SRTD2_HUMAN		2	630	-			Q53TS2	Silent	SNP	ENST00000313349.3	1	1	hg19	c.333G>A	CCDS33210.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_014755			84	80		205	196	1		1	1		0	0	43	0		1	1	0	23	0	54	0	84	205
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	G	A	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468													G|||	27	0.00539137	0.0204	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.0					ENST00000313349.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(61-63)atC>atT		SERTA domain containing 2		G		73,4333	64.7+/-102.0	0,73,2130	151.0	136.0	141.0		63	-1.6	0.9	2	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous	SERTAD2	NM_014755.2		0,73,6430	AA,AG,GG		0.0,1.6568,0.5613		21/315	64863943	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	9792	220	121412	58				g.chr2:64863943G>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.63C>T	chr2.hg19:g.64863943G>A		1					SERTAD2_ENST00000476805.2_5'UTR	p.I21I	NM_014755.2	NP_055570.1	1	2	3	2.183349	Q14140	SRTD2_HUMAN		2	360	-			Q53TS2	Silent	SNP	ENST00000313349.3	1	0	hg19	c.63C>T	CCDS33210.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	0		2	2	2	0		0	0	105		105	104	1	2.060000	-2.987520	1	0.170000	NM_014755			132	131		588	578	0		1	1		0	0	105	0		1	9.997651e-01	0	8	0	48	0	132	588
SLC1A4	6509	broad.mit.edu	37	2	65243637	65243637	+	Silent	SNP	C	C	T	rs202237988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	288					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458																																						ENST00000234256.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993668	0.990000	1.000000																										0				13						c.(862-864)atC>atT		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	C	,	1,4405	2.1+/-5.4	0,1,2202	205.0	189.0	194.0		,864	-3.2	0.0	2		194	1,8599	1.2+/-3.3	0,1,4299	yes	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	,288/533	65243637	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6509	8	121412	45				g.chr2:65243637C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.864C>T	chr2.hg19:g.65243637C>T		1					SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	p.I288I	NM_003038.4	NP_003029.2	1	2	3	2.183349	P43007	SATT_HUMAN		5	1107	+			B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	1	1	hg19	c.864C>T	CCDS1879.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-16.913270	1	0.170000	NM_003038			66	65		663	655	0		1	0		0	0	107	0		1	9.975718e-01	0	1	0	90	0	66	663
CEP68	23177	broad.mit.edu	37	2	65296585	65296585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000377990.2	+	2	210	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000260569.4_Silent_p.L3L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	3					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)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527																																						ENST00000377990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(7-9)Ctg>Ttg		centrosomal protein 68kDa							69.0	81.0	77.0					2																	65296585		2197	4274	6471	SO:0001819	synonymous_variant	23177	0	0					g.chr2:65296585C>T	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.7C>T	chr2.hg19:g.65296585C>T		1					RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000260569.4_Silent_p.L3L	p.L3L	NM_015147.2	NP_055962.2	1	2	3	2.183349	Q76N32	CEP68_HUMAN		2	210	+			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	1	1	hg19	c.7C>T	CCDS1880.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-2.841674	1	0.170000	NM_015147			86	85		561	550	1		1	1		0	0	143	0		1	9.771487e-01	0	3	0	38	0	86	561
CEP68	23177	broad.mit.edu	37	2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000377990.2	+	3	718	c.515G>A	c.(514-516)aGc>aAc	p.S172N	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	172					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)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562																																						ENST00000377990.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(514-516)aGc>aAc		centrosomal protein 68kDa							90.0	77.0	81.0					2																	65298745		2203	4300	6503	SO:0001583	missense	23177	2	121412	37				g.chr2:65298745G>A	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.515G>A	chr2.hg19:g.65298745G>A	ENSP00000367229:p.Ser172Asn	1					RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N	p.S172N	NM_015147.2	NP_055962.2	1	2	3	2.183349	Q76N32	CEP68_HUMAN		3	718	+			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	1	1	hg19	c.515G>A	CCDS1880.2	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467144	0.26335	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13778	2.56;2.56;2.56	5.8	-3.97	0.04094	5.8	-3.97	0.04094	.	1.223130	0.05650	N	0.584966	T	0.05090	0.0136	N	0.08118	0	0.26175	N	0.979806	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.001;0.001;0.003	T	0.38286	-0.9668	10	0.23302	T	0.38	1.135	1.0509	0.01579	0.1817:0.2118:0.3139:0.2926	.	160;172;172;172;172	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	N	172;172;172;160	ENSP00000367229:S172N;ENSP00000438306:S172N;ENSP00000260569:S172N	ENSP00000260569:S172N	S	+	2	0	0	CEP68	65152249	65152249	0.000000	0.05858	0.037000	0.18230	0.657000	0.38888	-0.854000	0.04299	-0.389000	0.07786	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_015147			95	94		267	262	1		1	1		0	0	91	0		1	9.999949e-01	0	12	0	41	0	95	267
SPRED2	200734	broad.mit.edu	37	2	65540683	65540683	+	Silent	SNP	G	G	A	rs369939169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	403	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				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)			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						ACATCACTCCGCAGTGGTAGC	0.607																																						ENST00000356388.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1207-1209)tgC>tgT		sprouty-related, EVH1 domain containing 2		G	,	0,4406		0,0,2203	66.0	68.0	67.0		1200,1209	-0.1	0.9	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPRED2	NM_001128210.1,NM_181784.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	400/416,403/419	65540683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200734	1	121412	29				g.chr2:65540683G>A	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.1209C>T	chr2.hg19:g.65540683G>A		1					SPRED2_ENST00000443619.2_Silent_p.C400C	p.C403C	NM_181784.2	NP_861449.2	1	2	3	2.183349	Q7Z698	SPRE2_HUMAN		6	1398	-			A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	1	1	hg19	c.1209C>T	CCDS33211.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000				67	67		408	398	0		1	1		0	0	70	0		1	9.999777e-01	0	12	0	84	0	67	408
SPRED2	200734	broad.mit.edu	37	2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	329	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				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)			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						GGAGTCGGGCGCGTCCTGGCA	0.642																																						ENST00000356388.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(985-987)gCg>gTg		sprouty-related, EVH1 domain containing 2							81.0	80.0	80.0					2																	65540906		2203	4299	6502	SO:0001583	missense	200734	0	0					g.chr2:65540906G>A	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.986C>T	chr2.hg19:g.65540906G>A	ENSP00000348753:p.Ala329Val	1					SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V|SPRED2_ENST00000474228.1_5'Flank	p.A329V	NM_181784.2	NP_861449.2	1	2	3	2.183349	Q7Z698	SPRE2_HUMAN		6	1175	-			A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	1	1	hg19	c.986C>T	CCDS33211.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139092	0.94560	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.75	4.88	0.63580	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88075	0.2803	10	0.87932	D	0	-13.311	14.8468	0.70267	0.0687:0.0:0.9313:0.0	.	326;329	E9PEP0;Q7Z698	.;SPRE2_HUMAN	V	329;326;344;211	ENSP00000348753:A329V;ENSP00000393697:A326V;ENSP00000390595:A344V;ENSP00000407627:A211V	ENSP00000348753:A329V	A	-	2	0	0	SPRED2	65394410	65394410	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.869000	0.99810	1.444000	0.47605	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000				221	221		605	599	1		1	1		0	0	127	0		1	1	0	18	0	50	0	221	605
ETAA1	54465	broad.mit.edu	37	2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	191						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGAAGAACTTATGAAACTG	0.264																																						ENST00000272342.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				33						c.(571-573)cTt>cGt		Ewing tumor-associated antigen 1							25.0	30.0	28.0					2																	67630386		2140	4258	6398	SO:0001583	missense	54465	0	0					g.chr2:67630386T>G	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.572T>G	chr2.hg19:g.67630386T>G	ENSP00000272342:p.Leu191Arg	1					ETAA1_ENST00000462772.1_Intron	p.L191R	NM_019002.3	NP_061875.2	1	2	3	2.183349	Q9NY74	ETAA1_HUMAN		5	702	+			Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	1	1	hg19	c.572T>G	CCDS1882.1	1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719812	0.68844	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.87932	D	0	-27.5494	15.9872	0.80168	0.0:0.0:0.0:1.0	.	191	Q9NY74	ETAA1_HUMAN	R	191	ENSP00000272342:L191R	ENSP00000272342:L191R	L	+	2	0	0	ETAA1	67483890	67483890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_019002			34	34		189	189	1		1	1		0	0	31	0		1	9.911707e-01	0	11	0	33	0	34	189
ETAA1	54465	broad.mit.edu	37	2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	683						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTGCTATATCTAAACAAGGA	0.353																																						ENST00000272342.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2047-2049)tCt>tTt		Ewing tumor-associated antigen 1							82.0	85.0	84.0					2																	67631862		2203	4299	6502	SO:0001583	missense	54465	0	0					g.chr2:67631862C>T	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.2048C>T	chr2.hg19:g.67631862C>T	ENSP00000272342:p.Ser683Phe	1					ETAA1_ENST00000462772.1_Intron	p.S683F	NM_019002.3	NP_061875.2	1	2	3	2.183349	Q9NY74	ETAA1_HUMAN		5	2178	+			Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	1	1	hg19	c.2048C>T	CCDS1882.1	1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835227	0.71373	.	.	ENSG00000143971	ENST00000272342	T	0.26810	1.71	5.7	4.83	0.62350	5.7	4.83	0.62350	.	0.550372	0.19256	N	0.118798	T	0.28300	0.0699	L	0.59436	1.845	0.25308	N	0.989222	B	0.27140	0.169	B	0.28553	0.091	T	0.23476	-1.0187	10	0.72032	D	0.01	-0.3088	11.9379	0.52884	0.0:0.9203:0.0:0.0797	.	683	Q9NY74	ETAA1_HUMAN	F	683	ENSP00000272342:S683F	ENSP00000272342:S683F	S	+	2	0	0	ETAA1	67485366	67485366	0.998000	0.40836	0.817000	0.32601	0.075000	0.17131	1.646000	0.37249	1.415000	0.47037	0.563000	0.77884	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_019002			79	78		354	352	1		1	1		0	0	82	0		1	9.998230e-01	0	16	0	43	0	79	354
C1D	10438	broad.mit.edu	37	2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000355848.3	-	2	171	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000470189.2_5'Flank|C1D_ENST00000409302.1_Missense_Mutation_p.E42K|C1D_ENST00000407324.1_Missense_Mutation_p.E81K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	42	Required for transcriptional repression. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328																																						ENST00000355848.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				3						c.(124-126)Gag>Aag		C1D nuclear receptor corepressor							53.0	52.0	52.0					2																	68274319		2203	4299	6502	SO:0001583	missense	10438	0	0					g.chr2:68274319C>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"""small unique nuclear receptor co-repressor"""	606997	"""C1D nuclear receptor co-repressor"""			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.124G>A	chr2.hg19:g.68274319C>T	ENSP00000348107:p.Glu42Lys	1					C1D_ENST00000470189.2_5'Flank|C1D_ENST00000407324.1_Missense_Mutation_p.E81K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000409302.1_Missense_Mutation_p.E42K	p.E42K			1	2	3	2.183349	Q13901	C1D_HUMAN		2	171	-			A8K336|D6W5F8|Q05D64	Missense_Mutation	SNP	ENST00000355848.3	1	1	hg19	c.124G>A	CCDS1883.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.066926	0.93898	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.52754	0.68;0.65;0.68;0.68	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.091917	0.85682	D	0.000000	T	0.59059	0.2166	M	0.80982	2.52	0.80722	D	1	P	0.43938	0.822	P	0.45276	0.475	T	0.61496	-0.7051	10	0.37606	T	0.19	-21.2335	19.2911	0.94100	0.0:1.0:0.0:0.0	.	42	Q13901	C1D_HUMAN	K	42;81;42;42	ENSP00000348107:E42K;ENSP00000384304:E81K;ENSP00000386468:E42K;ENSP00000386779:E42K	ENSP00000348107:E42K	E	-	1	0	0	C1D	68127823	68127823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.129000	0.64739	2.651000	0.90000	0.491000	0.48974	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_006333			41	41		263	258	1		1	1		0	0	66	0		1	1	0	66	0	180	0	41	263
WDR92	116143	broad.mit.edu	37	2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	259					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473																																						ENST00000295121.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(775-777)aAa>aCa		WD repeat domain 92							33.0	38.0	36.0					2																	68361924		2203	4300	6503	SO:0001583	missense	116143	0	0					g.chr2:68361924T>G	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.776A>C	chr2.hg19:g.68361924T>G	ENSP00000295121:p.Lys259Thr	1					WDR92_ENST00000406245.2_Missense_Mutation_p.K158T|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000492039.2_5'UTR	p.K259T	NM_138458.3	NP_612467.1	1	2	3	2.183349	Q96MX6	WDR92_HUMAN		7	892	-			Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	1	1	hg19	c.776A>C	CCDS1884.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.341843|3.341843	0.61073|0.61073	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	D;T;T|.	0.90563|.	-2.69;1.63;-0.13|.	5.65|5.65	5.65|5.65	0.86999|0.86999	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	B|.	0.31931|.	0.347|.	B|.	0.31686|.	0.134|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.26408|.	T|.	0.33|.	.|.	14.4531|14.4531	0.67399|0.67399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q96MX6|.	WDR92_HUMAN|.	T|H	259;158;259|63	ENSP00000295121:K259T;ENSP00000384518:K158T;ENSP00000386746:K259T|.	ENSP00000295121:K259T|.	K|N	-|-	2|1	0|0	0|0	WDR92|WDR92	68215428|68215428	68215428|68215428	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.909000|0.909000	0.53808|0.53808	8.040000|8.040000	0.89188|0.89188	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	AAA|AAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_138458			62	57		292	282	1		1	1		0	0	53	0		1	9.898263e-01	0	11	0	25	0	62	292
PNO1	56902	broad.mit.edu	37	2	68385624	68385624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68385624T>C	ENST00000263657.2	+	2	411	c.320T>C	c.(319-321)aTa>aCa	p.I107T	WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000492039.2_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GGACTTCAGATACGCTTTAAC	0.383																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2	0.580000	0.180000	4.700000e-01	2.500000e-01	0.350000	0.367073	0.350000	0.330000																										0				4						c.(319-321)aTa>aCa		partner of NOB1 homolog (S. cerevisiae)							101.0	101.0	101.0					2																	68385624		2203	4300	6503	SO:0001583	missense	56902	0	0					g.chr2:68385624T>C	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.320T>C	chr2.hg19:g.68385624T>C	ENSP00000263657:p.Ile107Thr	1					WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000295121.6_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000492039.2_5'Flank	p.I107T	NM_020143.2	NP_064528.1	1	2	3	2.183349	Q9NRX1	PNO1_HUMAN		2	411	+			A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	0	1	hg19	c.320T>C	CCDS1885.1	0	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718664	0.89205	.	.	ENSG00000115946	ENST00000263657	T	0.46819	0.86	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.045125	0.85682	D	0.000000	T	0.66896	0.2836	M	0.78344	2.41	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.71351	-0.4619	10	0.87932	D	0	-13.3743	16.542	0.84395	0.0:0.0:0.0:1.0	.	107	Q9NRX1	PNO1_HUMAN	T	107	ENSP00000263657:I107T	ENSP00000263657:I107T	I	+	2	0	0	PNO1	68239128	68239128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.882000	0.87258	2.304000	0.77564	0.528000	0.53228	ATA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	0	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-11.081400	1	0.170000	NM_020143			11	10		401	398	0		1	1		0	0	80	0		9.982915e-01	9.025293e-01	0	10	0	140	0	11	401
FBXO48	554251	broad.mit.edu	37	2	68691350	68691350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	153										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368																																						ENST00000377957.3	1.000000	0.800000	1	9.000000e-01	0.990000	0.963498	0.990000	1.000000																										0				4						c.(457-459)ctG>ctA		F-box protein 48							207.0	205.0	206.0					2																	68691350		2203	4300	6503	SO:0001819	synonymous_variant	554251	3	121412	40				g.chr2:68691350C>T	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.459G>A	chr2.hg19:g.68691350C>T		1						p.L153L	NM_001024680.1	NP_001019851.1	1	2	3	2.183349	Q5FWF7	FBX48_HUMAN		4	866	-				Silent	SNP	ENST00000377957.3	1	1	hg19	c.459G>A	CCDS33213.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	1	0	1		2	2	2	0		0	0	210		210	210	1	2.060000	-15.856210	1	0.170000	NM_001024680			78	75		910	900	0		1	0		0	0	210	0		1	3.973368e-01	0	0	0	17	0	78	910
APLF	200558	broad.mit.edu	37	2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A	rs542229761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	213					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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		16825	0.0		0.0	False		,,,				2504	0.001					ENST00000303795.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(637-639)Gga>Aga		aprataxin and PNKP like factor							55.0	58.0	57.0					2																	68753207		2203	4300	6503	SO:0001583	missense	200558	1	121412	25				g.chr2:68753207G>A	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.637G>A	chr2.hg19:g.68753207G>A	ENSP00000307004:p.Gly213Arg	1						p.G213R	NM_173545.2	NP_775816.1	1	2	3	2.183349	Q8IW19	APLF_HUMAN		6	808	+			A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	1	1	hg19	c.637G>A	CCDS1888.1	1	.	.	.	.	.	.	.	.	.	.	g	1.081	-0.666915	0.03428	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	4.29	-0.604	0.11626	4.29	-0.604	0.11626	.	1.283240	0.04864	N	0.444746	T	0.12902	0.0313	L	0.28274	0.84	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.001	T	0.29119	-1.0022	10	0.07030	T	0.85	.	7.258	0.26187	0.5238:0.0:0.4762:0.0	.	213;213	F8WET0;Q8IW19	.;APLF_HUMAN	R	213	ENSP00000307004:G213R	ENSP00000307004:G213R	G	+	1	0	0	APLF	68606711	68606711	0.010000	0.17322	0.050000	0.19076	0.897000	0.52465	0.484000	0.22308	-0.120000	0.11809	0.585000	0.79938	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-4.381730	1	0.170000	NM_173545			70	68		224	224	1		1	1		0	0	65	0		1	9.821088e-01	0	11	0	12	0	70	224
PROKR1	10887	broad.mit.edu	37	2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	63					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507																																						ENST00000303786.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(187-189)aTt>aCt		prokineticin receptor 1							229.0	199.0	209.0					2																	68873141		2203	4300	6503	SO:0001583	missense	10887	0	0					g.chr2:68873141T>C	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.188T>C	chr2.hg19:g.68873141T>C	ENSP00000303775:p.Ile63Thr	1					PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T	p.I63T			1	2	3	2.183349	Q8TCW9	PKR1_HUMAN		2	608	+			A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	1	1	hg19	c.188T>C	CCDS1889.1	1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495363	0.64186	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38240	1.15;1.15	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.67397	2.05	0.58432	D	0.999993	P	0.38250	0.624	B	0.40864	0.342	T	0.27971	-1.0058	10	0.36615	T	0.2	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	63	Q8TCW9	PKR1_HUMAN	T	63	ENSP00000303775:I63T;ENSP00000377874:I63T	ENSP00000303775:I63T	I	+	2	0	0	PROKR1	68726645	68726645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.539000	0.67199	2.330000	0.79161	0.528000	0.53228	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000				223	221		608	598	1		1	0		0	0	129	0		1	7.237324e-02	0	1	0	1	0	223	608
ARHGAP25	9938	broad.mit.edu	37	2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000295381.3	+	2	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582																																						ENST00000295381.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(169-171)aGg>aTg		Rho GTPase activating protein 25							160.0	168.0	165.0					2																	69002461		2203	4300	6503	SO:0001583	missense	9938	0	0					g.chr2:69002461G>T	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.170G>T	chr2.hg19:g.69002461G>T	ENSP00000295381:p.Arg57Met	1					ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M	p.R57M	NM_001007231.2	NP_001007232.2	1	2	3	2.183349	P42331	RHG25_HUMAN		2	589	+			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	1	1	hg19	c.170G>T		1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346716	0.82022	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.58	5.58	0.84498	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048467	0.64402	D	0.000001	T	0.41949	0.1181	M	0.88450	2.955	0.44562	D	0.997521	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.77004	0.989;0.97;0.983;0.983;0.983;0.963;0.989	T	0.41574	-0.9501	10	0.59425	D	0.04	.	11.5985	0.50988	0.0822:0.0:0.9178:0.0	.	57;31;57;50;50;50;57	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	31;57;57;57;50;50;50;50;50	ENSP00000439917:R31M;ENSP00000295381:R57M;ENSP00000386911:R57M;ENSP00000420583:R57M;ENSP00000386863:R50M;ENSP00000386241:R50M;ENSP00000417139:R50M	ENSP00000295381:R57M	R	+	2	0	0	ARHGAP25	68855965	68855965	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.672000	0.83956	2.613000	0.88420	0.563000	0.77884	AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	214		214	211	1	2.060000	-20.000000	1	0.170000	NM_014882			271	269		732	719	1		1	0		0	0	214	0		1	9.999131e-01	0	0	0	39	0	271	732
ARHGAP25	9938	broad.mit.edu	37	2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000295381.3	+	9	1528	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	370					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512																																						ENST00000295381.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1108-1110)cCc>cTc		Rho GTPase activating protein 25							106.0	114.0	111.0					2																	69046363		2203	4300	6503	SO:0001583	missense	9938	0	0					g.chr2:69046363C>T	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.1109C>T	chr2.hg19:g.69046363C>T	ENSP00000295381:p.Pro370Leu	1					ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L	p.P370L	NM_001007231.2	NP_001007232.2	1	2	3	2.183349	P42331	RHG25_HUMAN		9	1528	+			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	1	1	hg19	c.1109C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254697|2.254697	0.39896|0.39896	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|T	0.18016|0.15487	2.7;2.7;2.43;2.7;2.7;2.61;2.24|2.42	5.12|5.12	3.29|3.29	0.37713|0.37713	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.757438|0.757438	0.13147|0.13147	N|N	0.410145|0.410145	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28933|.	0.029;0.178;0.178;0.178;0.228;0.016|.	B;B;B;B;B;B|.	0.27796|.	0.01;0.036;0.058;0.058;0.083;0.003|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|8	0.11485|0.06365	T|T	0.65|0.9	.|.	6.1119|6.1119	0.20106|0.20106	0.3332:0.5798:0.0:0.0869|0.3332:0.5798:0.0:0.0869	.|.	331;371;364;363;364;370|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	L|S	370;371;331;363;364;364;364;355;64|230	ENSP00000295381:P370L;ENSP00000386911:P371L;ENSP00000420583:P331L;ENSP00000386863:P363L;ENSP00000386241:P364L;ENSP00000417139:P364L;ENSP00000417467:P64L|ENSP00000417818:P230S	ENSP00000295381:P370L|ENSP00000417818:P230S	P|P	+|+	2|1	0|0	0|0	ARHGAP25|ARHGAP25	68899867|68899867	68899867|68899867	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.766000|0.766000	0.26560|0.26560	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	CCC|CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	151		151	148	1	2.060000	-3.075757	1	0.170000	NM_014882			114	111		706	691	1		1	0		0	0	151	0		1	9.983488e-01	0	0	0	60	0	114	706
GFPT1	2673	broad.mit.edu	37	2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000357308.4	-	20	2262	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	695					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)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333																																						ENST00000357308.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(2083-2085)tCt>tAt		glutamine--fructose-6-phosphate transaminase 1							89.0	89.0	89.0					2																	69553337		2203	4300	6503	SO:0001583	missense	2673	0	0					g.chr2:69553337G>T		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.2084C>A	chr2.hg19:g.69553337G>T	ENSP00000349860:p.Ser695Tyr	1					GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	p.S695Y	NM_001244710.1	NP_001231639.1	1	2	3	2.183349	Q06210	GFPT1_HUMAN		20	2262	-			Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	1	1	hg19	c.2084C>A	CCDS58713.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743510	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95518	0.8592	10	0.87932	D	0	-17.7389	18.5783	0.91163	0.0:0.0:1.0:0.0	.	677	Q06210-2	.	Y	695;677	ENSP00000349860:S695Y;ENSP00000354347:S677Y	ENSP00000349860:S695Y	S	-	2	0	0	GFPT1	69406841	69406841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.596000	0.98267	2.854000	0.98071	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000				32	32		102	95	1		1	1		0	0	35	0		1	1	0	162	0	271	0	32	102
SNRNP27	11017	broad.mit.edu	37	2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328																																						ENST00000244227.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				11						c.(256-258)Cgg>Tgg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)		C	TRP/ARG	9,4389	15.5+/-35.6	0,9,2190	42.0	44.0	44.0		256	5.3	1.0	2	dbSNP_134	44	0,8598		0,0,4299	yes	missense	SNRNP27	NM_006857.2	101	0,9,6489	TT,TC,CC		0.0,0.2046,0.0693	probably-damaging	86/156	70123668	9,12987	2199	4299	6498	SO:0001583	missense	11017	16	121262	40				g.chr2:70123668C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.256C>T	chr2.hg19:g.70123668C>T	ENSP00000244227:p.Arg86Trp	1					SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	p.R86W	NM_006857.2	NP_006848.1	1	2	3	2.183349	Q8WVK2	SNR27_HUMAN		3	681	+			Q15410	Missense_Mutation	SNP	ENST00000244227.3	0	1	hg19	c.256C>T	CCDS33219.1	1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696442	0.48202	0.002046	0.0	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.31247	1.5;1.5	5.28	5.28	0.74379	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.50171	0.1600	L	0.55990	1.75	0.49915	D	0.999831	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.898	T	0.46624	-0.9178	10	0.66056	D	0.02	.	14.285	0.66240	0.0:1.0:0.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	86	ENSP00000244227:R86W;ENSP00000386608:R86W	ENSP00000244227:R86W	R	+	1	2	2	SNRNP27	69977172	69977172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.920000	0.40025	2.750000	0.94351	0.585000	0.79938	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_006857			29	28		151	151	1		1	1		0	0	20	0		1	1	0	97	0	455	0	29	151
MXD1	4084	broad.mit.edu	37	2	70165302	70165302	+	Silent	SNP	C	C	T	rs148753961	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000264444.2	+	6	812	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Silent_p.S174S	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	184					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)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557																																						ENST00000264444.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(550-552)agC>agT		MAX dimerization protein 1		C	,,	0,4406		0,0,2203	118.0	112.0	114.0		549,522,552	-5.1	0.9	2	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MXD1	NM_001202513.1,NM_001202514.1,NM_002357.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	183/221,174/212,184/222	70165302	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4084	4	121412	41				g.chr2:70165302C>T		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.552C>T	chr2.hg19:g.70165302C>T		1					MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Silent_p.S174S	p.S184S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	1	2	3	2.183349	Q05195	MAD1_HUMAN		6	812	+			B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	ENST00000264444.2	1	1	hg19	c.552C>T	CCDS1896.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-6.758828	1	0.170000	NM_002357			111	110		303	295	1		1	1		0	0	87	0		1	9.999882e-01	0	11	0	37	0	111	303
ASPRV1	151516	broad.mit.edu	37	2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T	rs371446435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602																																						ENST00000320256.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(559-561)Gtc>Atc		aspartic peptidase, retroviral-like 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	64.0	63.0		559	-1.8	1.0	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	187/344	70188262	2,13004	2203	4300	6503	SO:0001583	missense	151516	33	121412	46				g.chr2:70188262C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.559G>A	chr2.hg19:g.70188262C>T	ENSP00000315383:p.Val187Ile	1					PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	p.V187I	NM_152792.2	NP_690005.2	1	2	3	2.183349				1	1135	-				Missense_Mutation	SNP	ENST00000320256.4	1	1	hg19	c.559G>A	CCDS1897.1	1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195561	0.22037	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.49139	0.79	5.35	-1.79	0.07932	5.35	-1.79	0.07932	.	0.374473	0.18098	N	0.151771	T	0.26340	0.0643	L	0.27053	0.805	0.21782	N	0.999542	P	0.38504	0.634	B	0.25884	0.064	T	0.08534	-1.0717	10	0.36615	T	0.2	-15.2616	13.0216	0.58791	0.1264:0.2544:0.6192:0.0	.	187	Q53RT3	APRV1_HUMAN	I	187	ENSP00000315383:V187I	ENSP00000315383:V187I	V	-	1	0	0	ASPRV1	70041766	70041766	0.044000	0.20184	0.980000	0.43619	0.998000	0.95712	-1.908000	0.01587	-0.321000	0.08627	0.561000	0.74099	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_152792			72	72		365	360	1		1	1		0	0	71	0		1	3.935539e-01	0	5	0	3	0	72	365
PCBP1	5093	broad.mit.edu	37	2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000596665.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(247-249)aTc>aGc		poly(rC) binding protein 1							81.0	94.0	90.0					2																	70315123		2203	4300	6503	SO:0001583	missense	5093	0	0					g.chr2:70315123T>G		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.248T>G	chr2.hg19:g.70315123T>G	ENSP00000305556:p.Ile83Ser	1					PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	p.I83S	NM_006196.3	NP_006187.2	1	2	3	2.183349	Q15365	PCBP1_HUMAN		1	539	+			Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	1	1	hg19	c.248T>G	CCDS1898.1	1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251377	0.59212	.	.	ENSG00000169564	ENST00000303577	T	0.41065	1.01	4.16	3.01	0.34805	4.16	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.30885	0.0779	L	0.37466	1.105	0.58432	D	0.999999	B	0.21071	0.051	B	0.30179	0.112	T	0.05599	-1.0875	10	0.19590	T	0.45	.	8.1495	0.31132	0.0:0.098:0.0:0.902	.	83	Q15365	PCBP1_HUMAN	S	83	ENSP00000305556:I83S	ENSP00000305556:I83S	I	+	2	0	0	PCBP1	70168627	70168627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.890000	0.69774	0.954000	0.37851	-0.361000	0.07541	ATC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	0	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_006196			254	250		765	752	1		1	1		0	0	132	0		1	1	0	655	0	955	0	254	765
PCBP1	5093	broad.mit.edu	37	2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000596665.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	144	KH 2. {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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(430-432)Cgg>Tgg		poly(rC) binding protein 1							49.0	50.0	49.0					2																	70315305		2203	4300	6503	SO:0001583	missense	5093	0	0					g.chr2:70315305C>T		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.430C>T	chr2.hg19:g.70315305C>T	ENSP00000305556:p.Arg144Trp	1					PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	p.R144W	NM_006196.3	NP_006187.2	1	2	3	2.183349	Q15365	PCBP1_HUMAN		1	721	+			Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	1	1	hg19	c.430C>T	CCDS1898.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025764	0.35701	.	.	ENSG00000169564	ENST00000303577	T	0.36340	1.26	4.03	2.21	0.28008	4.03	2.21	0.28008	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	M	0.91717	3.235	0.80722	D	1	P	0.40000	0.698	P	0.44394	0.448	T	0.54153	-0.8336	10	0.87932	D	0	.	7.5355	0.27708	0.0:0.7348:0.1689:0.0963	.	144	Q15365	PCBP1_HUMAN	W	144	ENSP00000305556:R144W	ENSP00000305556:R144W	R	+	1	2	2	PCBP1	70168809	70168809	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.719000	0.25881	0.660000	0.30964	0.650000	0.86243	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-6.251872	1	0.170000	NM_006196			111	110		308	302	1		1	1		0	0	61	0		1	1	0	1103	0	1709	0	111	308
PCBP1	5093	broad.mit.edu	37	2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000596665.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	356					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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1066-1068)aGc>aTc		poly(rC) binding protein 1							27.0	28.0	27.0					2																	70315942		2203	4300	6503	SO:0001583	missense	5093	0	0					g.chr2:70315942G>T		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.1067G>T	chr2.hg19:g.70315942G>T	ENSP00000305556:p.Ser356Ile	1					PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	p.S356I	NM_006196.3	NP_006187.2	1	2	3	2.183349	Q15365	PCBP1_HUMAN		1	1358	+			Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	1	1	hg19	c.1067G>T	CCDS1898.1	1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334018	0.60853	.	.	ENSG00000169564	ENST00000303577	T	0.30182	1.54	3.88	3.88	0.44766	3.88	3.88	0.44766	.	0.053625	0.64402	D	0.000001	T	0.42988	0.1227	L	0.57536	1.79	0.40620	D	0.981757	P	0.49862	0.929	P	0.53313	0.723	T	0.48151	-0.9060	10	0.87932	D	0	.	14.1379	0.65300	0.0:0.0:1.0:0.0	.	356	Q15365	PCBP1_HUMAN	I	356	ENSP00000305556:S356I	ENSP00000305556:S356I	S	+	2	0	0	PCBP1	70169446	70169446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.464000	0.83262	0.563000	0.77884	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_006196			36	36		117	115	1		1	1		0	0	40	0		1	1	0	930	0	1222	0	36	117
PCYOX1	51449	broad.mit.edu	37	2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T	rs201051458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000433351.2	+	5	818	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	264					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438																																						ENST00000433351.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(790-792)Gca>Tca		prenylcysteine oxidase 1							127.0	112.0	117.0					2																	70502729		2203	4300	6503	SO:0001583	missense	51449	0	0					g.chr2:70502729G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.790G>T	chr2.hg19:g.70502729G>T	ENSP00000387654:p.Ala264Ser	1					PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S	p.A264S	NM_016297.3	NP_057381.3	1	2	3	2.183349	Q9UHG3	PCYOX_HUMAN		5	818	+			B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	1	1	hg19	c.790G>T	CCDS1902.1	1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506898	0.26949	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	2.28	0.28536	5.3	2.28	0.28536	Prenylcysteine lyase (1);	0.195793	0.53938	D	0.000050	T	0.08537	0.0212	L	0.34521	1.04	0.33521	D	0.592328	B;B	0.25667	0.037;0.131	B;B	0.25405	0.06;0.038	T	0.24368	-1.0162	10	0.07644	T	0.81	-9.6889	9.1513	0.36965	0.0775:0.0:0.6513:0.2712	.	246;264	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	S	187;187;264;264;186	ENSP00000441566:A187S;ENSP00000413178:A187S;ENSP00000387654:A264S;ENSP00000264441:A264S;ENSP00000439916:A186S	ENSP00000264441:A264S	A	+	1	0	0	PCYOX1	70356233	70356233	1.000000	0.71417	0.704000	0.30370	0.914000	0.54420	2.088000	0.41663	0.803000	0.34113	0.563000	0.77884	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_016297			108	105		240	235	1		1	1		0	0	60	0		1	1	0	106	0	192	0	108	240
ADD2	119	broad.mit.edu	37	2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	545					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547																																						ENST00000264436.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1633-1635)Acc>Gcc		adducin 2 (beta)							220.0	200.0	206.0					2																	70901918		2203	4300	6503	SO:0001583	missense	119	0	0					g.chr2:70901918T>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1633A>G	chr2.hg19:g.70901918T>C	ENSP00000264436:p.Thr545Ala	1					ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	p.T545A	NM_001617.3	NP_001608.1	1	2	3	2.183349	P35612	ADDB_HUMAN		14	2077	-			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	1	1	hg19	c.1633A>G	CCDS1906.1	1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677089	0.14841	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.21543	3.47;3.47;3.32;2.0	5.73	4.57	0.56435	5.73	4.57	0.56435	.	0.306452	0.35585	N	0.003104	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.07986	-1.0744	10	0.18710	T	0.47	-21.5161	9.9387	0.41567	0.0:0.0805:0.0:0.9195	.	545;545;545;545	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	A	545;545;297;545;239;545;239	ENSP00000264436:T545A;ENSP00000384677:T545A;ENSP00000347972:T545A;ENSP00000430243:T239A	ENSP00000264436:T545A	T	-	1	0	0	ADD2	70755426	70755426	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.699000	0.25586	1.000000	0.39049	0.533000	0.62120	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_001617			154	150		423	413	1		1			0	0	104	0		1	0	0	0	0	0	0	154	423
ADD2	119	broad.mit.edu	37	2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	507					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612																																						ENST00000264436.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1519-1521)Cga>Tga		adducin 2 (beta)							66.0	68.0	67.0					2																	70904002		2203	4300	6503	SO:0001587	stop_gained	119	0	0					g.chr2:70904002G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1519C>T	chr2.hg19:g.70904002G>A	ENSP00000264436:p.Arg507*	1					ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*	p.R507*	NM_001617.3	NP_001608.1	1	2	3	2.183349	P35612	ADDB_HUMAN		13	1963	-			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Nonsense_Mutation	SNP	ENST00000264436.4	0	1	hg19	c.1519C>T	CCDS1906.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.987657	0.99312	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.2811	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;201;507;201;507;523	.	ENSP00000264436:R507X	R	-	1	2	2	ADD2	70757510	70757510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-3.043158	1	0.170000	NM_001617			88	86		368	357	1		1	0		0	0	66	0		1	9.923236e-02	0	0	0	3	0	88	368
ADD2	119	broad.mit.edu	37	2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	255					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562																																						ENST00000264436.4	1.000000	0.960000	1	9.900000e-01	0.990000	0.997505	0.990000	1.000000																										0				36						c.(763-765)gAc>gGc		adducin 2 (beta)							92.0	79.0	83.0					2																	70918003		2203	4300	6503	SO:0001583	missense	119	0	0					g.chr2:70918003T>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.764A>G	chr2.hg19:g.70918003T>C	ENSP00000264436:p.Asp255Gly	1					ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G	p.D255G	NM_001617.3	NP_001608.1	1	2	3	2.183349	P35612	ADDB_HUMAN		8	1208	-			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	1	1	hg19	c.764A>G	CCDS1906.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798004	0.90538	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.43	5.43	0.79202	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.099608	0.64402	D	0.000002	T	0.44705	0.1306	L	0.56280	1.765	0.58432	D	0.999995	D;B;B;D	0.60575	0.988;0.313;0.363;0.969	D;B;B;P	0.66979	0.948;0.087;0.217;0.69	T	0.38351	-0.9665	10	0.87932	D	0	-37.6637	13.4827	0.61345	0.0:0.0:0.0:1.0	.	271;255;255;255	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	255;255;255;255;255;255;271	ENSP00000264436:D255G;ENSP00000384677:D255G;ENSP00000347972:D255G;ENSP00000388072:D255G;ENSP00000398112:D271G	ENSP00000264436:D255G	D	-	2	0	0	ADD2	70771511	70771511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.277000	0.76020	0.528000	0.53228	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_001617			37	36		318	311	1		1	0		0	0	67	0		1	0	0	0	0	1	0	37	318
ADD2	119	broad.mit.edu	37	2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	53					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGGTGACGCGCTTCTTCTGC	0.642																																						ENST00000264436.4	0.850000	0.330000	7.100000e-01	4.300000e-01	0.560000	0.579496	0.560000	0.540000																										0				36						c.(157-159)Cgc>Tgc		adducin 2 (beta)							54.0	52.0	53.0					2																	70933384		2203	4300	6503	SO:0001583	missense	119	0	0					g.chr2:70933384G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.157C>T	chr2.hg19:g.70933384G>A	ENSP00000264436:p.Arg53Cys	1					ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C	p.R53C	NM_001617.3	NP_001608.1	1	2	3	2.183349	P35612	ADDB_HUMAN		3	601	-			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	1	1	hg19	c.157C>T	CCDS1906.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389532	0.82902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.89	2.93	0.34026	4.89	2.93	0.34026	.	0.148312	0.41605	D	0.000847	T	0.58004	0.2092	M	0.88105	2.93	0.58432	D	0.999994	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	0.991;0.999;0.974;0.999;0.999;0.975	T	0.65393	-0.6179	10	0.87932	D	0	-16.7794	10.5275	0.44957	0.0:0.0:0.5433:0.4567	.	69;53;53;53;53;53	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	53;53;53;53;53;53;53;53;53;69;53;53	ENSP00000264436:R53C;ENSP00000384677:R53C;ENSP00000347972:R53C;ENSP00000430243:R53C;ENSP00000388072:R53C;ENSP00000398112:R69C;ENSP00000412357:R53C;ENSP00000412681:R53C	ENSP00000264436:R53C	R	-	1	0	0	ADD2	70786892	70786892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	1.385000	0.46445	0.591000	0.81541	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-16.319960	1	0.170000	NM_001617			16	16		353	348	0		1	0		0	0	53	0		9.999315e-01	0	0	0	0	1	0	16	353
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	33					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647																																						ENST00000264436.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(97-99)Cgc>Tgc		adducin 2 (beta)							56.0	58.0	57.0					2																	70933444		2203	4300	6503	SO:0001583	missense	119	1	121408	26				g.chr2:70933444G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.97C>T	chr2.hg19:g.70933444G>A	ENSP00000264436:p.Arg33Cys	1					ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C	p.R33C	NM_001617.3	NP_001608.1	1	2	3	2.183349	P35612	ADDB_HUMAN		3	541	-			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	1	1	hg19	c.97C>T	CCDS1906.1	1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706310	0.68615	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.89	3.05	0.35203	4.89	3.05	0.35203	.	0.070702	0.56097	D	0.000029	T	0.54382	0.1855	M	0.82630	2.6	0.45150	D	0.998168	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.996	D;D;P;D;P;P	0.65684	0.937;0.928;0.854;0.937;0.902;0.653	T	0.60490	-0.7253	10	0.87932	D	0	-10.9604	12.008	0.53270	0.0:0.0:0.6865:0.3135	.	49;33;33;33;33;33	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	33;33;33;33;33;33;33;33;33;49;33;33	ENSP00000264436:R33C;ENSP00000384677:R33C;ENSP00000347972:R33C;ENSP00000430243:R33C;ENSP00000388072:R33C;ENSP00000398112:R49C;ENSP00000412357:R33C;ENSP00000412681:R33C	ENSP00000264436:R33C	R	-	1	0	0	ADD2	70786952	70786952	1.000000	0.71417	0.918000	0.36340	0.548000	0.35241	4.820000	0.62671	0.735000	0.32537	0.591000	0.81541	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	0		22	2	2	1		1	1	71		71	69	1	2.060000	-8.646893	1	0.170000	NM_001617			140	139		347	344	1		1	0		1	0	71	0		1	0	0	0	0	1	0	140	347
CLEC4F	165530	broad.mit.edu	37	2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000272367.2	-	4	734	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	220					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCATTTTCTAAGCCTCTG	0.413																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2	1.000000	0.410000	8.700000e-01	5.400000e-01	0.690000	0.708121	0.690000	1.000000																										0				37						c.(658-660)Gaa>Taa		C-type lectin domain family 4, member F							84.0	82.0	83.0					2																	71043855		2203	4300	6503	SO:0001587	stop_gained	165530	0	0					g.chr2:71043855C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.658G>T	chr2.hg19:g.71043855C>A	ENSP00000272367:p.Glu220*	1					CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	1	2	3	2.183349	Q8N1N0	CLC4F_HUMAN		4	734	-			A4QPA5	Nonsense_Mutation	SNP	ENST00000272367.2	0	1	hg19	c.658G>T	CCDS1910.1	0	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322102	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	.	.	.	2.42	1.52	0.23074	2.42	1.52	0.23074	.	0.343745	0.21127	N	0.079714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3439	0.15998	0.0:0.8318:0.0:0.1682	.	.	.	.	X	220	.	ENSP00000272367:E220X	E	-	1	0	0	CLEC4F	70897363	70897363	0.002000	0.14202	0.110000	0.21437	0.340000	0.28889	0.282000	0.18829	0.575000	0.29434	0.313000	0.20887	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-5.319823	1	0.170000	NM_173535			16	15		283	280	0		1			0	0	60	0		9.999306e-01	0	0	0	0	0	0	16	283
CLEC4F	165530	broad.mit.edu	37	2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000272367.2	-	3	308	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	78					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(232-234)Gac>Aac		C-type lectin domain family 4, member F							130.0	111.0	117.0					2																	71046523		2203	4300	6503	SO:0001583	missense	165530	0	0					g.chr2:71046523C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.232G>A	chr2.hg19:g.71046523C>T	ENSP00000272367:p.Asp78Asn	1					CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	1	2	3	2.183349	Q8N1N0	CLC4F_HUMAN		3	308	-			A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	1	1	hg19	c.232G>A	CCDS1910.1	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816019	0.50527	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01963	4.58;4.53	3.59	-0.488	0.12056	3.59	-0.488	0.12056	.	1.740840	0.03574	N	0.229119	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0895	0.01660	0.1798:0.4327:0.1751:0.2124	.	78;78	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	78	ENSP00000272367:D78N;ENSP00000390581:D78N	ENSP00000272367:D78N	D	-	1	0	0	CLEC4F	70900031	70900031	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.508000	0.06344	-0.103000	0.12175	0.305000	0.20034	GAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	1		2	2	2	0		0	0	58		58	53	1	2.060000	-20.000000	1	0.170000	NM_173535			74	68		247	235	1		1			0	0	58	0		1	0	0	0	0	0	0	74	247
CD207	50489	broad.mit.edu	37	2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T	rs551434216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	187					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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19275	0.0		0.001	False		,,,				2504	0.0					ENST00000410009.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(559-561)cGa>cAa		CD207 molecule, langerin							68.0	61.0	63.0					2																	71060782		1887	4100	5987	SO:0001583	missense	50489	8	120834	34				g.chr2:71060782C>T	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.560G>A	chr2.hg19:g.71060782C>T	ENSP00000386378:p.Arg187Gln	1						p.R187Q	NM_015717.3	NP_056532	1	2	3	2.183349	Q9UJ71	CLC4K_HUMAN		3	605	-				Missense_Mutation	SNP	ENST00000410009.3	1	1	hg19	c.560G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958792	0.00465	.	.	ENSG00000116031	ENST00000410009	T	0.28454	1.61	4.01	0.32	0.15878	4.01	0.32	0.15878	.	0.885835	0.09699	N	0.767266	T	0.09774	0.0240	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33574	-0.9863	10	0.17832	T	0.49	.	2.4971	0.04624	0.2028:0.2341:0.0:0.5631	.	187	Q9UJ71	CLC4K_HUMAN	Q	187	ENSP00000386378:R187Q	ENSP00000386378:R187Q	R	-	2	0	0	CD207	70914290	70914290	0.005000	0.15991	0.036000	0.18154	0.022000	0.10575	-0.415000	0.07106	0.043000	0.15746	-1.087000	0.02190	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_015717			28	26		56	56	1		1	0		0	0	13	0		1	2.669133e-01	0	1	0	2	0	28	56
CD207	50489	broad.mit.edu	37	2	71062649	71062649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062649C>T	ENST00000410009.3	-	2	208	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	55			A -> V (in dbSNP:rs10489990).		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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACGGAGGCGACCAGGACC	0.597																																						ENST00000410009.3	0.650000	0.120000	4.800000e-01	2.000000e-01	0.320000	0.352382	0.320000	0.300000																										0				20						c.(163-165)Gcc>Acc		CD207 molecule, langerin							68.0	77.0	74.0					2																	71062649		2110	4230	6340	SO:0001583	missense	50489	4	121114	36				g.chr2:71062649C>T	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.163G>A	chr2.hg19:g.71062649C>T	ENSP00000386378:p.Ala55Thr	1						p.A55T	NM_015717.3	NP_056532	1	2	3	2.183349	Q9UJ71	CLC4K_HUMAN		2	208	-				Missense_Mutation	SNP	ENST00000410009.3	0	1	hg19	c.163G>A		0	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317390	0.23908	.	.	ENSG00000116031	ENST00000410009	T	0.04156	3.69	4.87	-2.16	0.07080	4.87	-2.16	0.07080	.	0.407067	0.21670	N	0.070893	T	0.01730	0.0055	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43861	-0.9365	10	0.12430	T	0.62	.	1.0347	0.01546	0.1653:0.2023:0.1641:0.4684	.	55	Q9UJ71	CLC4K_HUMAN	T	55	ENSP00000386378:A55T	ENSP00000386378:A55T	A	-	1	0	0	CD207	70916157	70916157	0.001000	0.12720	0.002000	0.10522	0.055000	0.15305	-0.664000	0.05292	-0.119000	0.11830	-0.175000	0.13238	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-6.599350	1	0.170000	NM_015717			5	5		207	201	0		1	0		0	0	30	0		9.334879e-01	8.397490e-03	0	0	0	5	0	5	207
CD207	50489	broad.mit.edu	37	2	71062889	71062889	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062889C>A	ENST00000410009.3	-	1	63	c.18G>T	c.(16-18)gaG>gaT	p.E6D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	6					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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CATCAGGGGCCTCCTTCTCCA	0.562																																						ENST00000410009.3	1.000000	0.260000	9.900000e-01	4.400000e-01	0.680000	0.693558	0.680000	1.000000																										0				20						c.(16-18)gaG>gaT		CD207 molecule, langerin							90.0	97.0	95.0					2																	71062889		2094	4222	6316	SO:0001583	missense	50489	0	0					g.chr2:71062889C>A	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.18G>T	chr2.hg19:g.71062889C>A	ENSP00000386378:p.Glu6Asp	1						p.E6D	NM_015717.3	NP_056532	1	2	3	2.183349	Q9UJ71	CLC4K_HUMAN		1	63	-				Missense_Mutation	SNP	ENST00000410009.3	0	1	hg19	c.18G>T		0	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634852	0.29068	.	.	ENSG00000116031	ENST00000410009	T	0.04706	3.57	4.24	2.42	0.29668	4.24	2.42	0.29668	.	0.132092	0.34676	N	0.003765	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.21655	-1.0239	10	0.36615	T	0.2	.	5.8743	0.18820	0.0:0.7655:0.0:0.2345	.	6	Q9UJ71	CLC4K_HUMAN	D	6	ENSP00000386378:E6D	ENSP00000386378:E6D	E	-	3	2	2	CD207	70916397	70916397	0.062000	0.20869	0.201000	0.23476	0.052000	0.14988	0.268000	0.18571	1.114000	0.41781	0.655000	0.94253	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-9.013785	1	0.170000	NM_015717			5	4		95	94	0		1	0		0	0	18	0		9.341350e-01	0	0	1	0	0	0	5	95
NAGK	55577	broad.mit.edu	37	2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000244204.6	+	10	1024	c.962G>T	c.(961-963)aGg>aTg	p.R321M	NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000418807.3_Missense_Mutation_p.R270M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	321					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617																																						ENST00000244204.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(961-963)aGg>aTg		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						34.0	32.0	33.0					2																	71305565		2203	4294	6497	SO:0001583	missense	55577	0	0					g.chr2:71305565G>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.962G>T	chr2.hg19:g.71305565G>T	ENSP00000244204:p.Arg321Met	1					NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000418807.3_Missense_Mutation_p.R270M	p.R321M			1	2	3	2.183349	Q9UJ70	NAGK_HUMAN		10	1024	+			B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	0	1	hg19	c.962G>T		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.91|18.91|18.91	3.723219|3.723219|3.723219	0.68959|0.68959|0.68959	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.48201	.|.|1.41;1.38;0.82	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	.|.|.	.|.|0.352887	.|.|0.31834	.|.|N	.|.|0.006984	T|T|T	0.39200|0.39200|0.39200	0.1069|0.1069|0.1069	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.49687|0.49687|0.49687	D|D|D	0.99981|0.99981|0.99981	.|.|B	.|.|0.30439	.|.|0.279	.|.|B	.|.|0.32022	.|.|0.139	T|T|T	0.30534|0.30534|0.30534	-0.9975|-0.9975|-0.9975	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-13.0177|-13.0177|-13.0177	4.3929|4.3929|4.3929	0.11350|0.11350|0.11350	0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617	.|.|.	.|.|321	.|.|Q9UJ70	.|.|NAGK_HUMAN	C|H|M	339|85|321;367;270	.|.|ENSP00000244204:R321M;ENSP00000389087:R367M;ENSP00000396070:R270M	.|.|ENSP00000244204:R321M	G|Q|R	+|+|+	1|3|2	0|2|0	0|2|0	NAGK|NAGK|NAGK	71159073|71159073|71159073	71159073|71159073|71159073	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.697000|0.697000|0.697000	0.25556|0.25556|0.25556	0.559000|0.559000|0.559000	0.29153|0.29153|0.29153	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGC|CAG|AGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1	1	0	1		2	2	2	0		0	0	19		19	20	1	2.060000	-20.000000	1	0.170000				35	34		125	120	1		1	1		0	0	19	0		1	1	0	81	0	219	0	35	125
MCEE	84693	broad.mit.edu	37	2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	40					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)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468																																						ENST00000244217.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(118-120)Ggt>Tgt		methylmalonyl CoA epimerase							114.0	124.0	121.0					2																	71351596		2203	4300	6503	SO:0001583	missense	84693	0	0					g.chr2:71351596C>A	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.118G>T	chr2.hg19:g.71351596C>A	ENSP00000244217:p.Gly40Cys	1					AC007881.1_ENST00000578636.1_RNA	p.G40C	NM_032601.3	NP_115990.3	1	2	3	2.183349	Q96PE7	MCEE_HUMAN		2	135	-			Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	1	1	hg19	c.118G>T	CCDS1915.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854643	0.51376	.	.	ENSG00000124370	ENST00000244217	T	0.65178	-0.14	5.33	2.44	0.29823	5.33	2.44	0.29823	.	0.727471	0.13510	N	0.382552	T	0.65312	0.2679	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.52856	0.711	T	0.56050	-0.8043	10	0.66056	D	0.02	-25.9894	4.5436	0.12071	0.0:0.5656:0.1631:0.2713	.	40	Q96PE7	MCEE_HUMAN	C	40	ENSP00000244217:G40C	ENSP00000244217:G40C	G	-	1	0	0	MCEE	71205104	71205104	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.288000	0.08377	0.284000	0.22305	0.650000	0.86243	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	1	0	1		2	2	2	0		0	0	159		159	156	1	2.060000	-20.000000	1	0.170000	NM_032601			241	238		661	651	1		1	1		0	0	159	0		1	1	0	67	0	60	0	241	661
ZNF638	27332	broad.mit.edu	37	2	71625864	71625864	+	Missense_Mutation	SNP	C	C	T	rs141861784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71625864C>T	ENST00000409544.1	+	12	3092	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ZNF638_ENST00000355812.3_Missense_Mutation_p.T821M|ZNF638_ENST00000264447.4_Missense_Mutation_p.T821M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	821					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)			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						TCTGTGGTAACGGTAGCTGTT	0.323																																						ENST00000409544.1	1.000000	0.750000	1	8.500000e-01	0.960000	0.941182	0.960000	1.000000																										0				63						c.(2461-2463)aCg>aTg		zinc finger protein 638							174.0	194.0	187.0					2																	71625864		2203	4299	6502	SO:0001583	missense	27332	250	121410	59				g.chr2:71625864C>T	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.2462C>T	chr2.hg19:g.71625864C>T	ENSP00000386433:p.Thr821Met	1					ZNF638_ENST00000264447.4_Missense_Mutation_p.T821M|ZNF638_ENST00000355812.3_Missense_Mutation_p.T821M	p.T821M	NM_001252612.1	NP_001239541.1	1	2	3	2.183349	Q14966	ZN638_HUMAN		12	3092	+			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	1	0	hg19	c.2462C>T	CCDS1917.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025369	0.75390	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.57436	0.4;1.43;1.43	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.342010	0.25244	N	0.032067	T	0.59404	0.2191	N	0.24115	0.695	0.35668	D	0.813052	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.926	T	0.68420	-0.5413	10	0.66056	D	0.02	-8.3712	14.1517	0.65389	0.0:1.0:0.0:0.0	.	821;821;821;821	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	M	400;821;821;821	ENSP00000348066:T821M;ENSP00000264447:T821M;ENSP00000386433:T821M	ENSP00000264447:T821M	T	+	2	0	0	ZNF638	71479372	71479372	0.765000	0.28485	1.000000	0.80357	0.947000	0.59692	2.060000	0.41394	2.701000	0.92244	0.585000	0.79938	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-13.959200	1	0.170000	NM_014497			67	66		817	801	0		1	1		0	0	155	0		1	9.870153e-01	0	6	0	77	0	67	817
ZNF638	27332	broad.mit.edu	37	2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1775					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)			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						CTTAATTTTGTTACTGTTGAT	0.368																																						ENST00000409544.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(5323-5325)gTt>gGt		zinc finger protein 638							104.0	109.0	107.0					2																	71654323		2203	4300	6503	SO:0001583	missense	27332	0	0					g.chr2:71654323T>G	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.5324T>G	chr2.hg19:g.71654323T>G	ENSP00000386433:p.Val1775Gly	1					ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G	p.V1775G	NM_001252612.1	NP_001239541.1	1	2	3	2.183349	Q14966	ZN638_HUMAN		24	5954	+			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	1	1	hg19	c.5324T>G	CCDS1917.1	1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821830	0.71028	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50813	0.73;0.73;1.13	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000259	T	0.54464	0.1860	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.56962	-0.7892	10	0.49607	T	0.09	-14.1295	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1775;1775	Q14966-3;Q14966	.;ZN638_HUMAN	G	1775;1775;715	ENSP00000264447:V1775G;ENSP00000386433:V1775G;ENSP00000386813:V715G	ENSP00000264447:V1775G	V	+	2	0	0	ZNF638	71507831	71507831	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	1	0	1		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_014497			127	124		579	561	1		1	1		0	0	113	0		1	1	0	51	0	134	0	127	579
DYSF	8291	broad.mit.edu	37	2	71797772	71797772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000409744.1_Silent_p.K1012K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1025					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)			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						GGAAGCCGAAGCACTGGGTCC	0.627																																						ENST00000258104.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(3073-3075)aaG>aaA		dysferlin							62.0	62.0	62.0					2																	71797772		2201	4300	6501	SO:0001819	synonymous_variant	8291	0	0					g.chr2:71797772G>A	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.3075G>A	chr2.hg19:g.71797772G>A		1					DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000410041.1_Silent_p.K1043K	p.K1025K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	1	2	3	2.183349	O75923	DYSF_HUMAN		29	3352	+			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	1	1	hg19	c.3075G>A	CCDS1918.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_003494			39	39		154	153	1		1	0		0	0	36	0		1	9.871176e-01	0	0	0	30	0	39	154
DYSF	8291	broad.mit.edu	37	2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1215	C2 4. {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)			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						TGGCGAGCCGGCCACAGTTGC	0.592																																						ENST00000258104.3	0.690000	0.220000	5.600000e-01	3.100000e-01	0.420000	0.438516	0.420000	0.400000																										0				111						c.(3643-3645)Gcc>Acc		dysferlin							79.0	77.0	78.0					2																	71825816		2203	4300	6503	SO:0001583	missense	8291	0	0					g.chr2:71825816G>A	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.3643G>A	chr2.hg19:g.71825816G>A	ENSP00000258104:p.Ala1215Thr	1					DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T	p.A1215T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	1	2	3	2.183349	O75923	DYSF_HUMAN		33	3920	+			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	1	1	hg19	c.3643G>A	CCDS1918.1	0	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573708	0.28092	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.66	1.54	0.23209	5.66	1.54	0.23209	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.929726	0.09356	N	0.813410	T	0.68274	0.2983	N	0.26130	0.795	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.015;0.015;0.002;0.015;0.004;0.004;0.004;0.002;0.015;0.001;0.001;0.009;0.015;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25759	0.038;0.038;0.009;0.038;0.038;0.038;0.038;0.038;0.038;0.009;0.009;0.038;0.038;0.063	T	0.54899	-0.8224	10	0.27785	T	0.31	-4.3415	7.2742	0.26275	0.1531:0.2606:0.5864:0.0	.	1247;1233;1216;1202;1233;1202;1232;1201;1246;1232;1215;1201;1216;1215	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	T	1246;1232;1232;1215;1215;1247;1216;1202;1216;1233;1233	ENSP00000407046:A1246T;ENSP00000387137:A1232T;ENSP00000386547:A1232T;ENSP00000398305:A1215T;ENSP00000258104:A1215T;ENSP00000386683:A1247T;ENSP00000377678:A1216T;ENSP00000386285:A1202T;ENSP00000386512:A1216T;ENSP00000386881:A1233T;ENSP00000386617:A1233T	ENSP00000258104:A1215T	A	+	1	0	0	DYSF	71679324	71679324	0.050000	0.20438	0.039000	0.18376	0.359000	0.29487	0.816000	0.27267	0.749000	0.32854	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.784171	1	0.170000	NM_003494			11	11		333	325	0		1	0		0	0	66	0		9.981755e-01	2.165449e-01	0	0	0	25	0	11	333
DYSF	8291	broad.mit.edu	37	2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1543			G -> D (in LGMD2B). {ECO:0000269|PubMed:18853459}.		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)			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						TCTGTGATTGGTGAATTTAAG	0.517																																						ENST00000258104.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111	GRCh37	CM074150	DYSF	M		c.(4627-4629)gGt>gTt		dysferlin							257.0	251.0	253.0					2																	71883410		2203	4300	6503	SO:0001583	missense	8291	0	0					g.chr2:71883410G>T	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.4628G>T	chr2.hg19:g.71883410G>T	ENSP00000258104:p.Gly1543Val	1					DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V	p.G1543V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	1	2	3	2.183349	O75923	DYSF_HUMAN		42	4905	+			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	1	1	hg19	c.4628G>T	CCDS1918.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967841	0.74131	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.69;-2.69;-2.69;-2.72;-2.73;-2.72;-2.67;-2.69;-2.69;-2.69	5.39	5.39	0.77823	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.220575	0.47093	D	0.000249	D	0.96291	0.8790	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.997;0.998;1.0;0.998;1.0;0.999;0.998;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.988;0.962;0.978;0.988;0.962;0.991;0.993;0.991;0.997;0.978;0.993;0.993;0.962;0.962;0.917	D	0.96680	0.9503	10	0.72032	D	0.01	-37.0403	16.7046	0.85368	0.0:0.0:1.0:0.0	.	307;1575;1582;1565;1530;1561;1551;1560;1550;1574;1581;1564;1529;1544;1543	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	V	1574;1560;1581;1564;1543;1575;1544;1551;1565;1582;1561	ENSP00000407046:G1574V;ENSP00000387137:G1560V;ENSP00000386547:G1581V;ENSP00000398305:G1564V;ENSP00000258104:G1543V;ENSP00000386683:G1575V;ENSP00000377678:G1544V;ENSP00000386285:G1551V;ENSP00000386512:G1565V;ENSP00000386881:G1582V;ENSP00000386617:G1561V	ENSP00000258104:G1543V	G	+	2	0	0	DYSF	71736918	71736918	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	1		2	2	2	0		0	0	336		336	333	1	2.060000	-20.000000	1	0.170000	NM_003494			396	387		1149	1136	1		1	0		0	0	336	0		1	9.995461e-01	0	1	0	33	0	396	1149
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	135					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622																																						ENST00000001146.2	1.000000	0.500000	9.200000e-01	6.200000e-01	0.760000	0.773032	0.760000	1.000000																										0				28						c.(403-405)ggC>ggT		cytochrome P450, family 26, subfamily B, polypeptide 1							61.0	60.0	60.0					2																	72371142		2203	4300	6503	SO:0001819	synonymous_variant	56603	1	121410	32				g.chr2:72371142G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.405C>T	chr2.hg19:g.72371142G>A		1					CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	p.G135G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	1	2	3	2.183349	Q9NR63	CP26B_HUMAN		2	608	-			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	1	1	hg19	c.405C>T	CCDS1919.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-6.255896	1	0.170000	NM_019885			24	24		380	373	0		1	0		0	0	77	0		9.999996e-01	3.423507e-02	0	0	0	5	0	24	380
CYP26B1	56603	broad.mit.edu	37	2	72371289	72371289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	86					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637																																						ENST00000001146.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(256-258)acG>acA		cytochrome P450, family 26, subfamily B, polypeptide 1							92.0	84.0	87.0					2																	72371289		2203	4300	6503	SO:0001819	synonymous_variant	56603	0	0					g.chr2:72371289C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.258G>A	chr2.hg19:g.72371289C>T		1					CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	p.T86T	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	1	2	3	2.183349	Q9NR63	CP26B_HUMAN		2	461	-			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	1	1	hg19	c.258G>A	CCDS1919.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_019885			101	100		498	489	1		1	0		0	0	107	0		1	1.363780e-01	0	0	0	4	0	101	498
EMX1	2016	broad.mit.edu	37	2	73145311	73145311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	77					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771																																						ENST00000258106.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(328-330)tcG>tcA		empty spiracles homeobox 1							5.0	6.0	6.0					2																	73145311		1595	3568	5163	SO:0001819	synonymous_variant	2016	0	0					g.chr2:73145311G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.330G>A	chr2.hg19:g.73145311G>A		1					EMX1_ENST00000394111.5_Intron	p.S110S	NM_004097.2	NP_004088.2	1	2	3	2.183349	Q04741	EMX1_HUMAN		1	708	+			Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	1	1	hg19	c.330G>A	CCDS1921.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.771	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000				44	43		80	80	0		1	0		0	0	13	0		1	0	0	1	0	0	0	44	80
SFXN5	94097	broad.mit.edu	37	2	73198789	73198789	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	217					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)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592																																						ENST00000272433.2	1.000000	0.660000	1	8.400000e-01	0.990000	0.946308	0.990000	1.000000																										0				9						c.(649-651)gtC>gtT		sideroflexin 5							106.0	74.0	85.0					2																	73198789		2203	4300	6503	SO:0001819	synonymous_variant	94097	0	0					g.chr2:73198789G>A	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.651C>T	chr2.hg19:g.73198789G>A		1					SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	p.V217V	NM_144579.2	NP_653180.1	1	2	3	2.183349	Q8TD22	SFXN5_HUMAN		11	781	-			A8K116|Q494Y3|Q53T29	Silent	SNP	ENST00000272433.2	1	1	hg19	c.651C>T	CCDS1922.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.999990	1	0.170000	NM_144579			19	19		211	206	0		1	0		0	0	45	0		9.999908e-01	2.452336e-01	0	0	0	11	0	19	211
SMYD5	10322	broad.mit.edu	37	2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T	rs554531603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18232	0.0		0.0	False		,,,				2504	0.0					ENST00000389501.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995064	0.990000	1.000000																										0				13						c.(661-663)Cgg>Tgg		SMYD family member 5							42.0	40.0	41.0					2																	73449901		2203	4300	6503	SO:0001583	missense	10322	2	121410	33				g.chr2:73449901C>T	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.661C>T	chr2.hg19:g.73449901C>T	ENSP00000374152:p.Arg221Trp	1						p.R221W	NM_006062.2	NP_006053.2	1	2	3	2.183349	Q6GMV2	SMYD5_HUMAN		7	706	+			D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	0	1	hg19	c.661C>T	CCDS33221.2	1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905965	0.72868	.	.	ENSG00000135632	ENST00000389501	T	0.47869	0.83	4.6	2.59	0.31030	4.6	2.59	0.31030	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.62392	0.2424	M	0.77103	2.36	0.39539	D	0.968782	D	0.71674	0.998	P	0.60886	0.88	T	0.66152	-0.5995	10	0.35671	T	0.21	-9.9667	12.5013	0.55957	0.2975:0.7025:0.0:0.0	.	221	Q6GMV2	SMYD5_HUMAN	W	221	ENSP00000374152:R221W	ENSP00000374152:R221W	R	+	1	2	2	SMYD5	73303409	73303409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.396000	0.44468	1.242000	0.43836	0.561000	0.74099	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.934340	1	0.170000	NM_006062			13	13		91	87	1		1	1		0	0	23	0		9.995468e-01	9.999002e-01	0	16	0	108	0	13	91
SMYD5	10322	broad.mit.edu	37	2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483																																						ENST00000389501.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(751-753)Acc>Gcc		SMYD family member 5							159.0	157.0	158.0					2																	73450209		2203	4300	6503	SO:0001583	missense	10322	0	0					g.chr2:73450209A>G	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.751A>G	chr2.hg19:g.73450209A>G	ENSP00000374152:p.Thr251Ala	1						p.T251A	NM_006062.2	NP_006053.2	1	2	3	2.183349	Q6GMV2	SMYD5_HUMAN		8	796	+			D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	1	1	hg19	c.751A>G	CCDS33221.2	1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838105	0.91117	.	.	ENSG00000135632	ENST00000389501	T	0.80653	-1.4	4.39	4.39	0.52855	4.39	4.39	0.52855	SET domain (2);	0.094256	0.64402	D	0.000001	D	0.86276	0.5894	M	0.78049	2.395	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.83964	0.0323	10	0.14252	T	0.57	-18.4045	12.8616	0.57915	1.0:0.0:0.0:0.0	.	251	Q6GMV2	SMYD5_HUMAN	A	251	ENSP00000374152:T251A	ENSP00000374152:T251A	T	+	1	0	0	SMYD5	73303717	73303717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.175000	0.89684	1.995000	0.58328	0.402000	0.26972	ACC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-20.000000	1	0.170000	NM_006062			221	215		617	610	1		1	1		0	0	149	0		1	1	0	59	0	51	0	221	617
CCT7	10574	broad.mit.edu	37	2	73470188	73470188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000258091.5	+	4	465	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Silent_p.V64V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	108					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512																																						ENST00000258091.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(322-324)gtG>gtA		chaperonin containing TCP1, subunit 7 (eta)							86.0	86.0	86.0					2																	73470188		1956	4142	6098	SO:0001819	synonymous_variant	10574	0	0					g.chr2:73470188G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.324G>A	chr2.hg19:g.73470188G>A		1					CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Silent_p.V64V	p.V108V	NM_006429.3	NP_006420.1	1	2	3	2.183349	Q99832	TCPH_HUMAN		4	465	+			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	1	1	hg19	c.324G>A	CCDS46336.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	1	0	0		2	2	2	0		0	0	76		76	74	1	2.060000	-3.334811	1	0.170000				65	65		332	322	1		1	1		0	0	76	0		1	1	0	134	0	630	0	65	332
CCT7	10574	broad.mit.edu	37	2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000258091.5	+	6	640	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Missense_Mutation_p.L123M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	167					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488																																						ENST00000258091.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				7						c.(499-501)Ctg>Atg		chaperonin containing TCP1, subunit 7 (eta)							56.0	57.0	57.0					2																	73471724		2060	4214	6274	SO:0001583	missense	10574	0	0					g.chr2:73471724C>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.499C>A	chr2.hg19:g.73471724C>A	ENSP00000258091:p.Leu167Met	1					CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Missense_Mutation_p.L123M	p.L167M	NM_006429.3	NP_006420.1	1	2	3	2.183349	Q99832	TCPH_HUMAN		6	640	+			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	1	1	hg19	c.499C>A	CCDS46336.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017429	0.75161	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.89	4.02	0.46733	4.89	4.02	0.46733	.	0.149169	0.45867	D	0.000322	D	0.87034	0.6077	M	0.85542	2.76	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.728;0.682;0.73;0.692	P;P;B;P;P	0.56648	0.803;0.451;0.397;0.612;0.5	D	0.87435	0.2391	10	0.46703	T	0.11	-14.8483	11.3016	0.49309	0.0:0.9111:0.0:0.0889	.	80;39;67;125;167	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	M	80;123;167;67;39;125	ENSP00000442058:L80M;ENSP00000437824:L123M;ENSP00000258091:L167M;ENSP00000444379:L67M;ENSP00000438462:L39M	ENSP00000258091:L167M	L	+	1	2	2	CCT7	73325232	73325232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.223000	0.51231	1.431000	0.47355	0.563000	0.77884	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				25	23		121	121	1		1	1		0	0	34	0		9.999999e-01	1	0	353	0	511	0	25	121
CCT7	10574	broad.mit.edu	37	2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000258091.5	+	8	998	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000539919.1_Missense_Mutation_p.A242V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	286					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483																																						ENST00000258091.5	0.770000	0.230000	6.200000e-01	3.300000e-01	0.460000	0.481900	0.460000	0.450000																										0				7						c.(856-858)gCc>gTc		chaperonin containing TCP1, subunit 7 (eta)							105.0	101.0	102.0					2																	73476192		1945	4140	6085	SO:0001583	missense	10574	0	0					g.chr2:73476192C>T	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.857C>T	chr2.hg19:g.73476192C>T	ENSP00000258091:p.Ala286Val	1					CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Missense_Mutation_p.A242V	p.A286V	NM_006429.3	NP_006420.1	1	2	3	2.183349	Q99832	TCPH_HUMAN		8	998	+			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	1	1	hg19	c.857C>T	CCDS46336.1	0	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514495	0.85389	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71920	2.185	0.80722	D	1	P;D;P;D;B;D	0.61697	0.495;0.971;0.845;0.99;0.02;0.963	B;P;B;P;B;P	0.62014	0.209;0.668;0.399;0.897;0.046;0.809	D	0.86972	0.2098	10	0.59425	D	0.04	-18.3614	16.9294	0.86186	0.0:1.0:0.0:0.0	.	199;158;186;244;82;286	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	199;242;286;82;186;158;244	ENSP00000442058:A199V;ENSP00000437824:A242V;ENSP00000258091:A286V;ENSP00000381456:A82V;ENSP00000444379:A186V;ENSP00000438462:A158V	ENSP00000258091:A286V	A	+	2	0	0	CCT7	73329700	73329700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.599000	0.82757	2.671000	0.90904	0.455000	0.32223	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.750903	1	0.170000				10	10		276	273	0		1	1		0	0	53	0		9.968561e-01	9.999978e-01	0	17	0	826	0	10	276
FBXO41	150726	broad.mit.edu	37	2	73486119	73486119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	ENST00000521871.1	-	13	3034	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G			Q8TF61	FBX41_HUMAN	F-box protein 41	873										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTAGCAGCCGCCTTCCACCT	0.642																																						ENST00000521871.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2617-2619)ggC>ggT		F-box protein 41							17.0	20.0	19.0					2																	73486119		1875	4063	5938	SO:0001819	synonymous_variant	150726	3	120082	34				g.chr2:73486119G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2619C>T	chr2.hg19:g.73486119G>A		1					FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G	p.G873G			1	2	3	2.183349	Q8TF61	FBX41_HUMAN		13	3034	-			G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	0	1	hg19	c.2619C>T	CCDS46337.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000				19	19		38	38	0		1	0		0	0	10	0		9.999979e-01	9.338166e-01	0	0	0	12	0	19	38
EGR4	1961	broad.mit.edu	37	2	73519155	73519155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000545030.1	-	2	1274	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_ENST00000436467.2_Silent_p.S297S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	400	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701																																						ENST00000545030.1	1.000000	0.710000	1	9.600000e-01	0.990000	0.973478	0.990000	1.000000																										0				11						c.(1198-1200)agC>agT		early growth response 4							10.0	14.0	13.0					2																	73519155		2141	4241	6382	SO:0001819	synonymous_variant	1961	0	0					g.chr2:73519155G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1200C>T	chr2.hg19:g.73519155G>A		1					EGR4_ENST00000436467.2_Silent_p.S297S	p.S400S	NM_001965.3	NP_001956.3	1	2	3	2.183349	Q05215	EGR4_HUMAN		2	1274	-			B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	0	1	hg19	c.1200C>T	CCDS1925.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-18.417760	1	0.170000	NM_001965			12	12		109	106	0		1	0		0	0	18	0		9.991573e-01	3.293470e-02	0	0	0	3	0	12	109
EGR4	1961	broad.mit.edu	37	2	73519670	73519670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000545030.1	-	2	759	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	EGR4_ENST00000436467.2_Silent_p.L126L	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	229	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCATCCAGCGGGGATCTG	0.667																																						ENST00000545030.1	1.000000	0.190000	8.700000e-01	3.500000e-01	0.570000	0.601234	0.570000	1.000000																										0				11						c.(685-687)Ctg>Ttg		early growth response 4							22.0	27.0	25.0					2																	73519670		2200	4298	6498	SO:0001819	synonymous_variant	1961	0	0					g.chr2:73519670G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.685C>T	chr2.hg19:g.73519670G>A		1					EGR4_ENST00000436467.2_Silent_p.L126L	p.L229L	NM_001965.3	NP_001956.3	1	2	3	2.183349	Q05215	EGR4_HUMAN		2	759	-			B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	0	1	hg19	c.685C>T	CCDS1925.2	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-8.123860	1	0.170000	NM_001965			4	4		94	94	0		1	0		0	0	12	0		8.918578e-01	2.585810e-02	0	1	0	4	0	4	94
ALMS1	7840	broad.mit.edu	37	2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	627	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)				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						TAGAGAGAAGCCTGGTACTTT	0.473																																						ENST00000264448.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(1879-1881)Cct>Tct		Alstrom syndrome 1							112.0	113.0	112.0					2																	73675536		1864	4092	5956	SO:0001583	missense	7840	0	0					g.chr2:73675536C>T	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.1879C>T	chr2.hg19:g.73675536C>T	ENSP00000264448:p.Pro627Ser	1					ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S	p.P627S	NM_015120.4	NP_055935	1	2	3	2.183349	Q8TCU4	ALMS1_HUMAN		8	1990	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	1	1	hg19	c.1879C>T	CCDS42697.1	1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497604	0.04291	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17691	3.14;3.13;2.26	4.08	0.202	0.15190	4.08	0.202	0.15190	.	1.540760	0.03657	N	0.242053	T	0.12433	0.0302	L	0.38175	1.15	0.09310	N	1	P;P;B	0.35401	0.499;0.499;0.307	B;B;B	0.26416	0.069;0.069;0.069	T	0.26052	-1.0114	10	0.34782	T	0.22	.	6.1427	0.20269	0.0:0.5246:0.0:0.4754	.	627;585;627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	585;627;627	ENSP00000386627:P585S;ENSP00000264448:P627S;ENSP00000366944:P627S	ENSP00000264448:P627S	P	+	1	0	0	ALMS1	73529044	73529044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.079000	0.03410	0.016000	0.14998	0.655000	0.94253	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1		2	2	2	0		0	0	180		180	177	1	2.060000	-20.000000	1	0.170000	NM_015120			189	186		662	652	1		1	1		0	0	180	0		1	7.364896e-01	0	4	0	7	0	189	662
ALMS1	7840	broad.mit.edu	37	2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3107					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)				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						TAAACCTGTAGCACAGGATCA	0.393																																						ENST00000264448.6	0.720000	0.290000	6.100000e-01	3.800000e-01	0.480000	0.498734	0.480000	0.480000																										0				147						c.(9319-9321)Gca>Tca		Alstrom syndrome 1							101.0	96.0	97.0					2																	73718408		1869	4108	5977	SO:0001583	missense	7840	0	0					g.chr2:73718408G>T	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.9319G>T	chr2.hg19:g.73718408G>T	ENSP00000264448:p.Ala3107Ser	1					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S|AC096546.1_ENST00000408160.1_RNA	p.A3107S	NM_015120.4	NP_055935	1	2	3	2.183349	Q8TCU4	ALMS1_HUMAN		10	9430	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	1	1	hg19	c.9319G>T	CCDS42697.1	0	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059890	0.55325	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	4.0	3.12	0.35913	4.0	3.12	0.35913	.	0.624751	0.14322	N	0.326937	T	0.13286	0.0322	L	0.48642	1.525	0.80722	D	1	P;P;P	0.37636	0.603;0.603;0.603	P;P;P	0.48368	0.575;0.575;0.575	T	0.05386	-1.0888	10	0.48119	T	0.1	.	7.6443	0.28311	0.1148:0.0:0.8852:0.0	.	3107;3065;3107	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3065;3107	ENSP00000386627:A3065S;ENSP00000264448:A3107S	ENSP00000264448:A3107S	A	+	1	0	0	ALMS1	73571916	73571916	0.990000	0.36364	0.978000	0.43139	0.961000	0.63080	0.899000	0.28417	1.279000	0.44446	0.580000	0.79431	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-17.078430	1	0.170000	NM_015120			18	18		463	456	0		1	0		0	0	111	0		9.999802e-01	2.728236e-01	0	1	0	25	0	18	463
ALMS1	7840	broad.mit.edu	37	2	73762007	73762007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73762007C>T	ENST00000264448.6	+	12	9946	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3279					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)				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						GTATTATGTTCCACAATTAAG	0.348																																						ENST00000264448.6	0.600000	0.280000	5.200000e-01	3.400000e-01	0.420000	0.437104	0.420000	0.420000																										0				147						c.(9835-9837)Cca>Tca		Alstrom syndrome 1							163.0	153.0	157.0					2																	73762007		1825	4076	5901	SO:0001583	missense	7840	1	120784	32				g.chr2:73762007C>T	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.9835C>T	chr2.hg19:g.73762007C>T	ENSP00000264448:p.Pro3279Ser	1					ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	p.P3279S	NM_015120.4	NP_055935	1	2	3	2.183349	Q8TCU4	ALMS1_HUMAN		12	9946	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	1	1	hg19	c.9835C>T	CCDS42697.1	0	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576900	0.45902	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08282	3.11;3.11	4.76	3.88	0.44766	4.76	3.88	0.44766	.	0.191887	0.25881	N	0.027690	T	0.11665	0.0284	L	0.36672	1.1	0.80722	D	1	P;P;D;P	0.56521	0.873;0.946;0.976;0.873	B;P;P;B	0.52424	0.412;0.509;0.698;0.412	T	0.03139	-1.1068	10	0.54805	T	0.06	.	8.7908	0.34850	0.0:0.8977:0.0:0.1023	.	3279;3279;3237;3279	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	S	3237;3279	ENSP00000386627:P3237S;ENSP00000264448:P3279S	ENSP00000264448:P3279S	P	+	1	0	0	ALMS1	73615515	73615515	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.662000	0.46766	1.229000	0.43630	0.491000	0.48974	CCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	0	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-2.941920	1	0.170000	NM_015120			25	25		729	714	0		1	1		0	0	134	0		9.999998e-01	3.629840e-01	0	2	0	35	0	25	729
ALMS1	7840	broad.mit.edu	37	2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4017					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)				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						GGGCTACCTGGCAGGCCCAGG	0.572																																						ENST00000264448.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(12049-12051)Gca>Aca		Alstrom syndrome 1							38.0	45.0	43.0					2																	73828501		2201	4300	6501	SO:0001583	missense	7840	0	0					g.chr2:73828501G>A	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.12049G>A	chr2.hg19:g.73828501G>A	ENSP00000264448:p.Ala4017Thr	1					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	p.A4017T	NM_015120.4	NP_055935	1	2	3	2.183349	Q8TCU4	ALMS1_HUMAN		19	12160	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	1	1	hg19	c.12049G>A	CCDS42697.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374355	0.61735	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06449	3.3;3.3	5.17	2.11	0.27256	5.17	2.11	0.27256	.	0.704599	0.12773	N	0.440361	T	0.13500	0.0327	L	0.43152	1.355	0.09310	N	0.999998	P;D	0.60575	0.746;0.988	B;P	0.60236	0.33;0.871	T	0.12656	-1.0539	10	0.51188	T	0.08	.	9.7807	0.40647	0.0:0.2824:0.5721:0.1455	.	3975;4017	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	3975;4017	ENSP00000386627:A3975T;ENSP00000264448:A4017T	ENSP00000264448:A4017T	A	+	1	0	0	ALMS1	73682009	73682009	0.009000	0.17119	0.001000	0.08648	0.094000	0.18550	1.680000	0.37607	0.689000	0.31550	0.561000	0.74099	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_015120			122	120		350	345	0		1	1		0	0	65	0		1	9.999999e-01	0	21	0	47	0	122	350
ALMS1	7840	broad.mit.edu	37	2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4062	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)				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						GAAGTTAATAGTCCAGGAGAG	0.502																																						ENST00000264448.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(12184-12186)Gtc>Atc		Alstrom syndrome 1							60.0	64.0	62.0					2																	73829384		2203	4300	6503	SO:0001583	missense	7840	0	0					g.chr2:73829384G>A	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.12184G>A	chr2.hg19:g.73829384G>A	ENSP00000264448:p.Val4062Ile	1					ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	p.V4062I	NM_015120.4	NP_055935	1	2	3	2.183349	Q8TCU4	ALMS1_HUMAN		20	12295	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	1	1	hg19	c.12184G>A	CCDS42697.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330713	0.81690	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	5.38	4.43	0.53597	5.38	4.43	0.53597	.	0.377452	0.25436	N	0.030696	T	0.19846	0.0477	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.835;0.994	P;D	0.72982	0.685;0.979	T	0.00038	-1.2247	10	0.62326	D	0.03	.	10.8552	0.46794	0.0971:0.0:0.9029:0.0	.	4020;4062	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	4020;4062	ENSP00000386627:V4020I;ENSP00000264448:V4062I	ENSP00000264448:V4062I	V	+	1	0	0	ALMS1	73682892	73682892	0.529000	0.26322	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	2.793000	0.96121	0.655000	0.94253	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_015120			81	81		217	211	1		1	1		0	0	67	0		1	9.999994e-01	0	23	0	37	0	81	217
ACTG2	72	broad.mit.edu	37	2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409624.1	+	10	1649	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	336					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507																																						ENST00000409624.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1006-1008)Cgg>Tgg		actin, gamma 2, smooth muscle, enteric							81.0	85.0	84.0					2																	74146577		2203	4300	6503	SO:0001583	missense	72	0	0					g.chr2:74146577C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1006C>T	chr2.hg19:g.74146577C>T	ENSP00000386857:p.Arg336Trp	1					ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W	p.R336W			1	2	3	2.183349	P63267	ACTH_HUMAN		10	1649	+			B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	1	1	hg19	c.1006C>T	CCDS1930.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924572	0.52653	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96365	-3.99;-3.99;-3.99	4.95	4.05	0.47172	4.95	4.05	0.47172	.	0.400763	0.20589	N	0.089385	D	0.99227	0.9731	H	0.99991	5.33	0.45452	D	0.998427	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.97857	1.0278	10	0.87932	D	0	.	13.8071	0.63238	0.1546:0.8453:0.0:0.0	.	293;336	E9PG30;P63267	.;ACTH_HUMAN	W	293;336;336	ENSP00000386929:R293W;ENSP00000295137:R336W;ENSP00000386857:R336W	ENSP00000295137:R336W	R	+	1	2	2	ACTG2	74000085	74000085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.107000	0.50329	1.395000	0.46643	0.591000	0.81541	CGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-3.222392	1	0.170000	NM_001615			68	67		401	393	1		1	0		0	0	86	0		1	9.850040e-01	0	0	0	41	0	68	401
TET3	200424	broad.mit.edu	37	2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	126					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)			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						GACGGCCCTGGCCCTCGCGCG	0.627																																						ENST00000409262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(376-378)Gcc>Acc		tet methylcytosine dioxygenase 3							51.0	54.0	53.0					2																	74273825		2046	4199	6245	SO:0001583	missense	200424	0	0					g.chr2:74273825G>A		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.376G>A	chr2.hg19:g.74273825G>A	ENSP00000386869:p.Ala126Thr	1						p.A126T	NM_144993.1	NP_659430.1	1	2	3	2.183349	O43151	TET3_HUMAN		1	376	+			A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	1	1	hg19	c.376G>A	CCDS46339.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676362	0.67928	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.28895	1.59;2.5	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.37515	D	0.917294	B	0.27853	0.191	B	0.26770	0.073	T	0.13683	-1.0500	9	0.56958	D	0.05	.	17.9029	0.88910	0.0:0.0:1.0:0.0	.	126	O43151	TET3_HUMAN	T	168;126;126	ENSP00000307803:A168T;ENSP00000386869:A126T	ENSP00000233310:A126T	A	+	1	0	0	TET3	74127333	74127333	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.283000	0.58977	2.768000	0.95171	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000				128	126		335	332	1		1	1		0	0	98	0		1	8.092605e-01	0	2	0	8	0	128	335
TET3	200424	broad.mit.edu	37	2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	443					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)			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						CCCAAGGAGAAGAAGAAGAAG	0.592																																						ENST00000409262.3	1.000000	0.530000	1	7.400000e-01	0.990000	0.901095	0.990000	1.000000																										0				34						c.(1327-1329)aAg>aTg		tet methylcytosine dioxygenase 3							32.0	39.0	37.0					2																	74274777		1941	4123	6064	SO:0001583	missense	200424	0	0					g.chr2:74274777A>T		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.1328A>T	chr2.hg19:g.74274777A>T	ENSP00000386869:p.Lys443Met	1						p.K443M	NM_144993.1	NP_659430.1	1	2	3	2.183349	O43151	TET3_HUMAN		1	1328	+			A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	0	1	hg19	c.1328A>T	CCDS46339.1	1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826483	0.50739	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.52	5.55	5.55	0.83447	5.55	5.55	0.83447	.	.	.	.	.	T	0.33876	0.0878	L	0.29908	0.895	0.30441	N	0.776174	D	0.62365	0.991	P	0.54270	0.747	T	0.28996	-1.0026	9	0.59425	D	0.04	.	9.2408	0.37495	0.9181:0.0:0.0819:0.0	.	443	O43151	TET3_HUMAN	M	485;443;443	ENSP00000307803:K485M;ENSP00000386869:K443M	ENSP00000233310:K443M	K	+	2	0	0	TET3	74128285	74128285	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.545000	0.53648	2.115000	0.64714	0.482000	0.46254	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-16.399230	1	0.170000				11	11		133	132	0		1	0		0	0	15	0		9.984870e-01	4.339319e-01	0	1	0	17	0	11	133
MTHFD2	10797	broad.mit.edu	37	2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000409804.1_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	164					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418																																						ENST00000394053.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(490-492)Cga>Tga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	Tetrahydrofolic acid(DB00116)						296.0	269.0	278.0					2																	74435776		1950	4161	6111	SO:0001587	stop_gained	10797	1	120902	34				g.chr2:74435776C>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.490C>T	chr2.hg19:g.74435776C>T	ENSP00000377617:p.Arg164*	1					MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*	p.R164*	NM_006636.3	NP_006627.2	1	2	3	2.183349	P13995	MTDC_HUMAN		4	570	+			Q53G90|Q53GV5|Q53S36|Q7Z650	Nonsense_Mutation	SNP	ENST00000394053.2	0	1	hg19	c.490C>T	CCDS1935.2	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402043	0.83120	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000409601	.	.	.	5.3	4.41	0.53225	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.3401:0.6599:0.0:0.0	.	.	.	.	X	164;62;123	.	ENSP00000264090:R62X	R	+	1	2	2	MTHFD2	74289284	74289284	0.942000	0.31987	0.935000	0.37517	0.914000	0.54420	1.619000	0.36965	1.200000	0.43188	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2	1	0	1		2	2	2	0		0	0	188		188	188	1	2.060000	-20.000000	1	0.170000				308	302		820	811	1		1	1		0	0	188	0		1	1	0	9	0	219	0	308	820
DCTN1	1639	broad.mit.edu	37	2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	600					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)			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						TGGTCCCCACCTGGCCGAAGG	0.522																																						ENST00000361874.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				45						c.(1798-1800)Ggt>Tgt		dynactin 1							157.0	124.0	135.0					2																	74595911		2203	4300	6503	SO:0001583	missense	1639	0	0					g.chr2:74595911C>A		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.1798G>T	chr2.hg19:g.74595911C>A	ENSP00000354791:p.Gly600Cys	1					DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	p.G600C	NM_004082.4	NP_004073.2	1	2	3	2.183349	Q14203	DCTN1_HUMAN		16	2115	-			A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	1	1	hg19	c.1798G>T	CCDS1939.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038934	0.75617	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82255	-1.16;-1.32;-1.12;-1.13;-1.59;-1.35;-1.37	5.65	4.78	0.61160	5.65	4.78	0.61160	.	0.000000	0.44285	D	0.000480	D	0.90188	0.6933	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.997	D;D;D;D;D;P	0.97110	0.999;1.0;0.922;0.999;0.982;0.873	D	0.91352	0.5105	10	0.87932	D	0	-7.756	13.7048	0.62631	0.0:0.9255:0.0:0.0745	.	580;563;600;593;466;466	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	600;593;583;466;466;563;583;580	ENSP00000354791:G600C;ENSP00000377571:G593C;ENSP00000384844:G466C;ENSP00000387270:G466C;ENSP00000386406:G563C;ENSP00000387327:G583C;ENSP00000386843:G580C	ENSP00000354791:G600C	G	-	1	0	0	DCTN1	74449419	74449419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.309000	0.65774	1.636000	0.50526	0.655000	0.94253	GGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.075757	1	0.170000	NM_004082			52	52		385	373	1		1	1		0	0	96	0		1	1	0	83	0	264	0	52	385
INO80B	83444	broad.mit.edu	37	2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank|INO80B_ENST00000469849.1_Intron	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	66					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCTGCCAAGCCTCAGCTCA	0.507																																						ENST00000233331.7	0.670000	0.210000	5.400000e-01	3.000000e-01	0.400000	0.426317	0.400000	0.390000																										0				13						c.(196-198)aaG>aaT		INO80 complex subunit B							43.0	57.0	52.0					2																	74682672		2203	4300	6503	SO:0001583	missense	83444	0	0					g.chr2:74682672G>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.198G>T	chr2.hg19:g.74682672G>T	ENSP00000233331:p.Lys66Asn	1					INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|WBP1_ENST00000409737.1_5'Flank|INO80B_ENST00000469849.1_Intron|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	p.K66N	NM_031288.3	NP_112578.2	1	2	3	2.183349	Q9C086	IN80B_HUMAN		2	292	+				Missense_Mutation	SNP	ENST00000233331.7	1	1	hg19	c.198G>T	CCDS1942.2	0	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841789	0.51057	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50001	0.77;0.76;0.78;0.76	5.56	3.7	0.42460	5.56	3.7	0.42460	.	0.242001	0.40469	N	0.001081	T	0.34513	0.0900	L	0.39898	1.24	0.36444	D	0.865667	B;B;B;B	0.32245	0.361;0.037;0.037;0.022	B;B;B;B	0.29942	0.109;0.017;0.017;0.037	T	0.36720	-0.9736	10	0.31617	T	0.26	-18.2847	8.6538	0.34051	0.0806:0.0:0.7685:0.1508	.	84;66;66;66	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	66;66;66;71	ENSP00000233331:K66N;ENSP00000389887:K66N;ENSP00000387267:K66N;ENSP00000386937:K71N	ENSP00000233331:K66N	K	+	3	2	2	INO80B	74536180	74536180	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.354000	0.34056	1.353000	0.45828	0.563000	0.77884	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	0	0	1		2	2	2	0		0	0	54		54	50	1	2.060000	-3.643952	1	0.170000	NM_031288			11	11		343	337	0		1	1		0	0	54	0		9.982363e-01	9.965458e-01	0	19	0	286	0	11	343
MOGS	7841	broad.mit.edu	37	2	74689272	74689272	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Silent_p.L442L|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	548					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597																																						ENST00000233616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1642-1644)ctC>ctA		mannosyl-oligosaccharide glucosidase							83.0	91.0	89.0					2																	74689272		1942	4133	6075	SO:0001819	synonymous_variant	7841	0	0					g.chr2:74689272G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1644C>A	chr2.hg19:g.74689272G>T		1					MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	p.L548L	NM_006302.2	NP_006293.2	1	2	3	2.183349	Q13724	MOGS_HUMAN		4	1806	-			A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	1	1	hg19	c.1644C>A	CCDS42700.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-20.000000	1	0.170000	NM_006302			133	131		705	685	1		1	1		0	0	108	0		1	1	0	119	0	274	0	133	705
MOGS	7841	broad.mit.edu	37	2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	170					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627																																						ENST00000233616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(508-510)Act>Gct		mannosyl-oligosaccharide glucosidase							66.0	73.0	70.0					2																	74691694		2008	4165	6173	SO:0001583	missense	7841	0	0					g.chr2:74691694T>C	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.508A>G	chr2.hg19:g.74691694T>C	ENSP00000233616:p.Thr170Ala	1					MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron	p.T170A	NM_006302.2	NP_006293.2	1	2	3	2.183349	Q13724	MOGS_HUMAN		2	670	-			A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	1	1	hg19	c.508A>G	CCDS42700.1	1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794219	0.90453	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.82323	2.585	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.64698	-0.6346	10	0.51188	T	0.08	-12.3794	13.3999	0.60876	0.0:0.0:0.0:1.0	.	170	Q13724	MOGS_HUMAN	A	170;64;170;64;51	ENSP00000233616:T170A;ENSP00000388201:T64A;ENSP00000386493:T170A;ENSP00000410992:T64A;ENSP00000396298:T51A	ENSP00000233616:T170A	T	-	1	0	0	MOGS	74545202	74545202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.254000	0.74563	0.533000	0.62120	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_006302			88	88		469	461	1		1	1		0	0	102	0		1	1	0	70	0	175	0	88	469
CCDC142	84865	broad.mit.edu	37	2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V|MRPL53_ENST00000258105.7_5'Flank|MRPL53_ENST00000409710.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582																																						ENST00000393965.3	0.790000	0.390000	6.900000e-01	4.800000e-01	0.570000	0.590351	0.570000	0.570000																										0				16						c.(1756-1758)gCc>gTc		coiled-coil domain containing 142							88.0	92.0	91.0					2																	74702391		2203	4300	6503	SO:0001583	missense	84865	0	0					g.chr2:74702391G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1757C>T	chr2.hg19:g.74702391G>A	ENSP00000377537:p.Ala586Val	1					MRPL53_ENST00000409710.1_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V|MRPL53_ENST00000258105.7_5'Flank	p.A586V	NM_032779.3	NP_116168.3	1	2	3	2.183349	Q17RM4	CC142_HUMAN		7	2153	-			B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	1	1	hg19	c.1757C>T		0	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709332	0.68615	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.72118	2.19	0.43652	D	0.996062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73078	-0.4096	10	0.72032	D	0.01	-10.8696	13.081	0.59114	0.0:0.0:1.0:0.0	.	586;579;586	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	586;579	ENSP00000377537:A586V;ENSP00000290418:A579V	ENSP00000290418:A579V	A	-	2	0	0	CCDC142	74555899	74555899	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.209000	0.72171	2.472000	0.83506	0.467000	0.42956	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_032779			30	31		635	618	0		1	0		0	0	153	0		1	2.039058e-01	0	0	0	18	0	30	635
TTC31	64427	broad.mit.edu	37	2	74719130	74719130	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000233623.5	+	9	883		c.e9-1		TTC31_ENST00000410003.1_Splice_Site|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542																																						ENST00000233623.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.e9-1		tetratricopeptide repeat domain 31							60.0	63.0	62.0					2																	74719130		1984	4166	6150	SO:0001630	splice_region_variant	64427	2	120916	37				g.chr2:74719130G>T	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.877-1G>T	chr2.hg19:g.74719130G>T		1					TTC31_ENST00000410003.1_Splice_Site|TTC31_ENST00000442235.2_Intron		NM_022492.4	NP_071937.4	1	2	3	2.183349	Q49AM3	TTC31_HUMAN		9	883	+			Q4KN40|Q53FD4|Q9H9F7	Splice_Site	SNP	ENST00000233623.5	1	1	hg19		CCDS42701.1	1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920848	0.17982	.	.	ENSG00000115282	ENST00000410003;ENST00000233623;ENST00000414247	.	.	.	4.12	3.24	0.37175	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4006	0.26962	0.1197:0.0:0.8803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TTC31	74572638	74572638	0.978000	0.34361	0.250000	0.24296	0.357000	0.29423	2.111000	0.41883	0.954000	0.37851	0.561000	0.74099	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_022492	Intron		59	58		272	268	1		1	1		0	0	84	0		1	9.679512e-01	0	24	0	4	0	59	272
DQX1	165545	broad.mit.edu	37	2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	455						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527																																						ENST00000404568.3	0.680000	0.420000	6.200000e-01	4.800000e-01	0.540000	0.553410	0.540000	0.540000																										0				18						c.(1363-1365)gAt>gGt		DEAQ box RNA-dependent ATPase 1							199.0	194.0	196.0					2																	74749838		2203	4300	6503	SO:0001583	missense	165545	0	0					g.chr2:74749838T>C	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	ENST00000404568.3:c.1364A>G	chr2.hg19:g.74749838T>C	ENSP00000384621:p.Asp455Gly	1					DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	p.D455G	NM_133637.2	NP_598376.2	1	2	3	2.183349	Q8TE96	DQX1_HUMAN		8	1583	-			Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	1	1	hg19	c.1364A>G	CCDS1949.2	0	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530676	0.64860	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.32023	1.47;1.47	4.57	4.57	0.56435	4.57	4.57	0.56435	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	M	0.77712	2.385	0.45704	D	0.998615	P	0.40360	0.714	P	0.45195	0.473	T	0.47661	-0.9100	10	0.72032	D	0.01	-13.8644	11.9275	0.52827	0.0:0.0:0.0:1.0	.	455	Q8TE96	DQX1_HUMAN	G	455	ENSP00000377523:D455G;ENSP00000384621:D455G	ENSP00000377523:D455G	D	-	2	0	0	DQX1	74603346	74603346	0.999000	0.42202	0.294000	0.24946	0.973000	0.67179	6.075000	0.71261	1.925000	0.55765	0.454000	0.30748	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	1	0	1		2	2	2	0		0	0	285		285	282	1	2.060000	-5.941032	1	0.170000	NM_133637			64	63		1430	1403	0		1	0		0	0	285	0		1	5.834202e-01	0	1	0	44	0	64	1430
DQX1	165545	broad.mit.edu	37	2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.G162E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	162	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCCCCAGGCTCCAGTGCCTCG	0.592																																						ENST00000404568.3	0.490000	0.190000	4.100000e-01	2.500000e-01	0.320000	0.334855	0.320000	0.330000																										0				18						c.(484-486)gGa>gAa		DEAQ box RNA-dependent ATPase 1							67.0	69.0	69.0					2																	74751381		2203	4299	6502	SO:0001583	missense	165545	0	0					g.chr2:74751381C>T	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	ENST00000404568.3:c.485G>A	chr2.hg19:g.74751381C>T	ENSP00000384621:p.Gly162Glu	1					DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.G162E	p.G162E	NM_133637.2	NP_598376.2	1	2	3	2.183349	Q8TE96	DQX1_HUMAN		4	704	-			Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	1	1	hg19	c.485G>A	CCDS1949.2	0	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815377	0.02776	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.06068	4.82;4.82;3.35	4.59	4.59	0.56863	4.59	4.59	0.56863	DEAD-like helicase (2);	0.144069	0.47093	D	0.000254	T	0.03390	0.0098	N	0.05383	-0.06	0.36377	D	0.861658	B	0.24618	0.107	B	0.22386	0.039	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.8456	14.9166	0.70801	0.0:1.0:0.0:0.0	.	162	Q8TE96	DQX1_HUMAN	E	162;162;44	ENSP00000377523:G162E;ENSP00000384621:G162E;ENSP00000392969:G44E	ENSP00000377523:G162E	G	-	2	0	0	DQX1	74604889	74604889	0.994000	0.37717	1.000000	0.80357	0.600000	0.36913	2.215000	0.42862	2.374000	0.81015	0.609000	0.83330	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	0	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-3.145654	1	0.170000	NM_133637			18	18		701	677	0		1	1		0	0	104	0		9.999753e-01	3.591056e-01	0	3	0	45	0	18	701
HTRA2	27429	broad.mit.edu	37	2	74757547	74757547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P138P|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	138					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCTAGCCCGCCGCCCGCTT	0.672																																						ENST00000258080.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(412-414)ccG>ccA		HtrA serine peptidase 2							7.0	9.0	8.0					2																	74757547		2127	4186	6313	SO:0001819	synonymous_variant	27429	0	0					g.chr2:74757547G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.414G>A	chr2.hg19:g.74757547G>A		1					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P138P|AUP1_ENST00000377526.3_5'Flank	p.P138P	NM_013247.4	NP_037379.1	1	2	3	2.183349	O43464	HTRA2_HUMAN		1	1044	+			Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	1	1	hg19	c.414G>A	CCDS1951.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_013247			31	30		86	84	0		1	1		0	0	15	0		1	9.999998e-01	0	28	0	52	0	31	86
LOXL3	84695	broad.mit.edu	37	2	74762766	74762766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	455	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647																																						ENST00000264094.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1363-1365)gcC>gcT		lysyl oxidase-like 3							79.0	91.0	87.0					2																	74762766		2203	4300	6503	SO:0001819	synonymous_variant	84695	0	0					g.chr2:74762766G>A	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.1365C>T	chr2.hg19:g.74762766G>A		1					LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron	p.A455A	NM_032603.2	NP_115992.1	1	2	3	2.183349	P58215	LOXL3_HUMAN		8	1436	-			D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	1	1	hg19	c.1365C>T	CCDS1953.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	1	0	1		2	2	2	0		0	0	189		189	186	1	2.060000	-16.033380	1	0.170000	NM_032603			298	292		703	694	1		1	1		0	0	189	0		1	9.999570e-01	0	4	0	33	0	298	703
HK2	3099	broad.mit.edu	37	2	75094762	75094762	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000290573.2	+	3	826		c.e3-1		HK2_ENST00000409174.1_Splice_Site	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2						apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488																																						ENST00000290573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.e3-1		hexokinase 2							221.0	237.0	231.0					2																	75094762		2203	4300	6503	SO:0001630	splice_region_variant	3099	0	0					g.chr2:75094762G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.227-1G>T	chr2.hg19:g.75094762G>T		1					HK2_ENST00000409174.1_Splice_Site		NM_000189.4	NP_000180.2	1	2	3	2.183349	P52789	HXK2_HUMAN		3	826	+			D6W5J2|Q8WU87|Q9UN82	Splice_Site	SNP	ENST00000290573.2	1	1	hg19		CCDS1956.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554873	0.86231	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	HK2	74948270	74948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	1	0	1		2	2	2	0		0	0	335		335	335	1	2.060000	-20.000000	1	0.170000	NM_000189	Intron		315	313		1495	1474	1		1	1		0	0	335	0		1	2.817854e-01	0	6	0	0	0	315	1495
HK2	3099	broad.mit.edu	37	2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	353	Hexokinase type-2 1.|Regulatory.		R -> C (in dbSNP:rs61748096). {ECO:0000269|PubMed:7883120}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632																																						ENST00000290573.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1057-1059)cGt>cAt		hexokinase 2							34.0	26.0	29.0					2																	75105841		2199	4297	6496	SO:0001583	missense	3099	0	0					g.chr2:75105841G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1058G>A	chr2.hg19:g.75105841G>A	ENSP00000290573:p.Arg353His	1					HK2_ENST00000409174.1_Missense_Mutation_p.R325H	p.R353H	NM_000189.4	NP_000180.2	1	2	3	2.183349	P52789	HXK2_HUMAN		9	1658	+			D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	0	1	hg19	c.1058G>A	CCDS1956.1	1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	0	HK2	74959349	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_000189			24	24		46	46	1		1	1		0	0	11	0		1	1	0	40	0	93	0	24	46
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	rs199510054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	118					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(352-354)Gcc>Acc		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						121.0	112.0	115.0					2																	75425709		2203	4300	6503	SO:0001583	missense	6869	0	0					g.chr2:75425709C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	chr2.hg19:g.75425709C>T	ENSP00000303522:p.Ala118Thr	1					TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	p.A118T	NM_001058.3	NP_001049.1	1	2	3	2.183349	P25103	NK1R_HUMAN		1	1117	-			A8K150	Missense_Mutation	SNP	ENST00000305249.5	1	1	hg19	c.352G>A	CCDS1958.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	0	TACR1	75279217	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.222087	1	0.170000	NM_001058			62	60		384	381	1		1	0		0	0	113	0		1	0	0	0	0	1	0	62	384
TACR1	6869	broad.mit.edu	37	2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	77					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(229-231)gCg>gTg		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						166.0	140.0	149.0					2																	75425831		2203	4300	6503	SO:0001583	missense	6869	0	0					g.chr2:75425831G>A	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.230C>T	chr2.hg19:g.75425831G>A	ENSP00000303522:p.Ala77Val	1					TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	p.A77V	NM_001058.3	NP_001049.1	1	2	3	2.183349	P25103	NK1R_HUMAN		1	995	-			A8K150	Missense_Mutation	SNP	ENST00000305249.5	1	1	hg19	c.230C>T	CCDS1958.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91616	0.5307	10	0.87932	D	0	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	77	P25103	NK1R_HUMAN	V	77	ENSP00000303522:A77V;ENSP00000386448:A77V	ENSP00000303522:A77V	A	-	2	0	0	TACR1	75279339	75279339	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-19.999970	1	0.170000	NM_001058			52	50		292	287	1		1			0	0	96	0		1	0	0	0	0	0	0	52	292
LRRTM4	80059	broad.mit.edu	37	2	77745858	77745858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:77745858C>A	ENST00000409093.1	-	3	1473	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	379					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)				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)		TCAGAGGTTTCTGGGGAGTTT	0.483																																						ENST00000409093.1	0.680000	0.140000	5.200000e-01	2.300000e-01	0.350000	0.382922	0.350000	0.330000																										0				64						c.(1135-1137)caG>caT		leucine rich repeat transmembrane neuronal 4							133.0	129.0	130.0					2																	77745858		1883	4111	5994	SO:0001583	missense	80059	0	0					g.chr2:77745858C>A	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.1137G>T	chr2.hg19:g.77745858C>A	ENSP00000386357:p.Gln379His	1					LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q379H	p.Q379H			1	2	3	2.183349	Q86VH4	LRRT4_HUMAN		3	1473	-			Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	0	1	hg19	c.1137G>T	CCDS46346.1	0	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872152	0.17322	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	4.79	0.61399	5.68	4.79	0.61399	.	0.553031	0.20134	N	0.098526	T	0.58595	0.2133	N	0.22421	0.69	0.35920	D	0.831742	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.59048	-0.7527	10	0.29301	T	0.29	.	8.8148	0.34989	0.0:0.7684:0.1525:0.0791	.	380;379;379	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	380;379;379;379;380	ENSP00000387228:Q380H;ENSP00000387297:Q379H;ENSP00000386357:Q379H;ENSP00000386236:Q379H;ENSP00000386286:Q380H	ENSP00000386236:Q379H	Q	-	3	2	2	LRRTM4	77599366	77599366	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	1.353000	0.45828	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-7.487333	1	0.170000	NM_024993			6	6		222	219	0		1			0	0	26	0		9.641154e-01	0	0	0	0	0	0	6	222
REG3G	130120	broad.mit.edu	37	2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000272324.5	+	3	301	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000393897.2_Missense_Mutation_p.S39R|REG3G_ENST00000409471.1_Missense_Mutation_p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	39					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACGGATCAGCTGTCCCAAAG	0.527																																						ENST00000272324.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(115-117)agC>agA		regenerating islet-derived 3 gamma							85.0	82.0	83.0					2																	79253879		2203	4300	6503	SO:0001583	missense	130120	0	0					g.chr2:79253879C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.117C>A	chr2.hg19:g.79253879C>A	ENSP00000272324:p.Ser39Arg	1					REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	p.S39R	NM_001008387.2	NP_001008388.1	1	2	3	2.183349	Q6UW15	REG3G_HUMAN		3	301	+			A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	1	1	hg19	c.117C>A	CCDS1962.1	1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151243	0.21371	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17528	4.2;4.2;2.27	5.05	0.0749	0.14397	5.05	0.0749	0.14397	C-type lectin-like (1);	0.501906	0.20367	N	0.093738	T	0.12603	0.0306	L	0.48642	1.525	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.004	T	0.18967	-1.0320	10	0.45353	T	0.12	.	4.9812	0.14166	0.0:0.4397:0.3079:0.2524	.	39;39	Q3SYE6;Q6UW15	.;REG3G_HUMAN	R	39	ENSP00000377475:S39R;ENSP00000272324:S39R;ENSP00000387105:S39R	ENSP00000272324:S39R	S	+	3	2	2	REG3G	79107387	79107387	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.550000	0.06034	-0.090000	0.12462	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	0	0	1		2	2	2	0		0	0	50		50	55	1	2.060000	-20.000000	1	0.170000	NM_198448			58	53		183	171	1		1	0		0	0	50	0		1	1	0	0	0	560	0	58	183
REG1A	5967	broad.mit.edu	37	2	79347941	79347941	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79347941G>A	ENST00000233735.1	+	2	57		c.e2-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			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						TTCTCCTATAGAGATTGTTGA	0.458																																						ENST00000233735.1	1.000000	0.270000	7.900000e-01	4.000000e-01	0.570000	0.599685	0.570000	1.000000																										0				39						c.e2-1		regenerating islet-derived 1 alpha							58.0	52.0	54.0					2																	79347941		2203	4300	6503	SO:0001630	splice_region_variant	5967	0	0					g.chr2:79347941G>A		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.-46-1G>A	chr2.hg19:g.79347941G>A		1							NM_002909.4	NP_002900.2	1	2	3	2.183349	P05451	REG1A_HUMAN		2	57	+			P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	1	1	hg19		CCDS1964.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-10.638370	1	0.170000	NM_002909	Intron		8	8		177	174	0		1	0		0	0	35	0		9.891428e-01	5.910880e-01	0	0	0	43	0	8	177
REG1A	5967	broad.mit.edu	37	2	79348758	79348758	+	Silent	SNP	C	C	A	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	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)			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						CCTATCGCTCCTACTGCTACT	0.537																																						ENST00000233735.1	0.440000	0.210000	3.800000e-01	2.600000e-01	0.310000	0.328221	0.310000	0.330000																										0				39						c.(133-135)tcC>tcA		regenerating islet-derived 1 alpha							175.0	172.0	173.0					2																	79348758		2203	4300	6503	SO:0001819	synonymous_variant	5967	0	0					g.chr2:79348758C>A		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.135C>A	chr2.hg19:g.79348758C>A		1						p.S45S	NM_002909.4	NP_002900.2	1	2	3	2.183349	P05451	REG1A_HUMAN		3	238	+			P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	1	1	hg19	c.135C>A	CCDS1964.1	0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	0	0	1		2	2	2	0		0	0	215		215	212	1	2.060000	-2.147970	0	0.170000	NM_002909			33	30		1284	1258	0		1	1		0	0	215	0		1	1	0	2	0	7292	0	33	1284
REG1A	5967	broad.mit.edu	37	2	79350005	79350005	+	Silent	SNP	C	C	A	rs373247851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	120	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)			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						CCCTGGTCTCCTACAAGTCCT	0.567																																						ENST00000233735.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(358-360)tcC>tcA		regenerating islet-derived 1 alpha							121.0	117.0	118.0					2																	79350005		2203	4300	6503	SO:0001819	synonymous_variant	5967	0	0					g.chr2:79350005C>A		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.360C>A	chr2.hg19:g.79350005C>A		1						p.S120S	NM_002909.4	NP_002900.2	1	2	3	2.183349	P05451	REG1A_HUMAN		5	463	+			P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	1	1	hg19	c.360C>A	CCDS1964.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-20.000000	1	0.170000	NM_002909			106	106		636	622	1		1	1		0	0	148	0		1	1	0	7	0	7558	0	106	636
CTNNA2	1496	broad.mit.edu	37	2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000402739.4	+	3	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	107					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGGATCGCCTCCTCCGAGTT	0.572																																						ENST00000402739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(319-321)Tcc>Gcc		catenin (cadherin-associated protein), alpha 2							96.0	94.0	95.0					2																	80085159		2051	4191	6242	SO:0001583	missense	1496	0	0					g.chr2:80085159T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.319T>G	chr2.hg19:g.80085159T>G	ENSP00000384638:p.Ser107Ala	1					CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A	p.S107A	NM_001282597.1	NP_001269526.1	1	2	3	2.183349	P26232	CTNA2_HUMAN		3	324	+			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	1	1	hg19	c.319T>G		1	.	.	.	.	.	.	.	.	.	.	T	8.425	0.847206	0.17034	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.065157	0.64402	N	0.000005	T	0.21022	0.0506	N	0.16166	0.38	0.51767	D	0.999934	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15484	0.013;0.005;0.008	T	0.08617	-1.0713	10	0.02654	T	1	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	107;107;107	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	A	107;107;107;141;107;107;107	ENSP00000418191:S107A;ENSP00000419295:S107A;ENSP00000387073:S107A;ENSP00000355398:S141A;ENSP00000384638:S107A;ENSP00000444675:S107A;ENSP00000441705:S107A	ENSP00000355398:S141A	S	+	1	0	0	CTNNA2	79938667	79938667	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.186000	0.72026	2.164000	0.68074	0.533000	0.62120	TCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	0	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-20.000000	1	0.170000	NM_004389			86	81		504	490	1		1	0		0	0	120	0		1	0	0	0	0	1	0	86	504
CTNNA2	1496	broad.mit.edu	37	2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A	rs371032975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000402739.4	+	5	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCAGATGTCGCCGCTACGAG	0.577																																						ENST00000402739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(700-702)Gcc>Acc		catenin (cadherin-associated protein), alpha 2		G	THR/ALA,THR/ALA	0,4156		0,0,2078	51.0	55.0	53.0		700,700	5.7	0.7	2		53	1,8443		0,1,4221	no	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	58,58	0,1,6299	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	234/861,234/906	80101316	1,12599	2078	4222	6300	SO:0001583	missense	1496	1	121042	28				g.chr2:80101316G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.700G>A	chr2.hg19:g.80101316G>A	ENSP00000384638:p.Ala234Thr	1					CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T	p.A234T	NM_001282597.1	NP_001269526.1	1	2	3	2.183349	P26232	CTNA2_HUMAN		5	705	+			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	1	1	hg19	c.700G>A		1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086571	0.76642	0.0	1.18E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.55999	0.789;0.684;0.768	T	0.53301	-0.8458	10	0.19147	T	0.46	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	234;234;268;234;234;234	ENSP00000418191:A234T;ENSP00000419295:A234T;ENSP00000355398:A268T;ENSP00000384638:A234T;ENSP00000444675:A234T;ENSP00000441705:A234T	ENSP00000355398:A268T	A	+	1	0	0	CTNNA2	79954824	79954824	1.000000	0.71417	0.742000	0.31022	0.816000	0.46133	9.869000	0.99810	2.686000	0.91538	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-3.665347	1	0.170000	NM_004389			78	78		300	294	1		1			0	0	82	0		1	0	0	0	0	0	0	78	300
LRRTM1	347730	broad.mit.edu	37	2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000295057.3	-	2	1768	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	371					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)				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						CAGGTGGCCGCTGGTGGGCTC	0.726										HNSCC(69;0.2)																												ENST00000295057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1111-1113)aGc>aTc		leucine rich repeat transmembrane neuronal 1							15.0	16.0	15.0					2																	80529833		2194	4290	6484	SO:0001583	missense	347730	0	0					g.chr2:80529833C>A	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.1112G>T	chr2.hg19:g.80529833C>A	ENSP00000295057:p.Ser371Ile	1	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	p.S371I	NM_178839.4	NP_849161.2	1	2	3	2.183349	Q86UE6	LRRT1_HUMAN		2	1768	-			A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	1	1	hg19	c.1112G>T	CCDS1966.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111276	0.37242	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42131	0.98;0.98	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.181583	0.47093	U	0.000241	T	0.26085	0.0636	N	0.08118	0	0.50813	D	0.999893	B	0.16396	0.017	B	0.12837	0.008	T	0.08513	-1.0718	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	371	Q86UE6	LRRT1_HUMAN	I	371	ENSP00000295057:S371I;ENSP00000386646:S371I	.	S	-	2	0	0	LRRTM1	80383344	80383344	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.825000	0.69286	2.452000	0.82932	0.655000	0.94253	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_178839			51	50		163	160	1		1			0	0	39	0		1	0	0	0	0	0	0	51	163
LRRTM1	347730	broad.mit.edu	37	2	80530750	80530750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	ENST00000295057.3	-	2	851	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	65					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)				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						CCAGCAGGCCGGACAGGTTGT	0.692										HNSCC(69;0.2)																												ENST00000295057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(193-195)tcC>tcT		leucine rich repeat transmembrane neuronal 1							34.0	39.0	37.0					2																	80530750		2203	4300	6503	SO:0001819	synonymous_variant	347730	0	0					g.chr2:80530750G>A	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.195C>T	chr2.hg19:g.80530750G>A		1	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	p.S65S	NM_178839.4	NP_849161.2	1	2	3	2.183349	Q86UE6	LRRT1_HUMAN		2	851	-			A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	1	1	hg19	c.195C>T	CCDS1966.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_178839			117	116		316	313	0		1			0	0	85	0		1	0	0	0	0	0	0	117	316
LRRTM1	347730	broad.mit.edu	37	2	80530896	80530896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	ENST00000295057.3	-	2	705	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	17					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)				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						ACCCCCGAGGGCCTCCTCAGC	0.632										HNSCC(69;0.2)																												ENST00000295057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(49-51)Ccc>Tcc		leucine rich repeat transmembrane neuronal 1							22.0	26.0	25.0					2																	80530896		2076	4202	6278	SO:0001583	missense	347730	0	0					g.chr2:80530896G>A	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.49C>T	chr2.hg19:g.80530896G>A	ENSP00000295057:p.Pro17Ser	1	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	p.P17S	NM_178839.4	NP_849161.2	1	2	3	2.183349	Q86UE6	LRRT1_HUMAN		2	705	-			A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	1	1	hg19	c.49C>T	CCDS1966.1	1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988266	0.18966	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.53857	1.1;1.1;0.77;0.6;1.56	4.46	3.57	0.40892	4.46	3.57	0.40892	.	0.070231	0.56097	U	0.000023	T	0.37073	0.0990	L	0.38175	1.15	0.52501	D	0.999957	P	0.38788	0.647	B	0.28553	0.091	T	0.12785	-1.0534	9	.	.	.	.	13.6624	0.62374	0.0:0.0:0.8437:0.1562	.	17	Q86UE6	LRRT1_HUMAN	S	17	ENSP00000295057:P17S;ENSP00000386646:P17S;ENSP00000415368:P17S;ENSP00000389473:P17S;ENSP00000404557:P17S	.	P	-	1	0	0	LRRTM1	80384407	80384407	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.979000	0.88103	0.847000	0.35167	0.185000	0.17295	CCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-5.243973	1	0.170000	NM_178839			76	74		225	217	0		1			0	0	64	0		1	0	0	0	0	0	0	76	225
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000402739.4	+	8	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000466387.1_Silent_p.N426N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.N426K(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGCCAACAAACTGGTAG	0.433																																						ENST00000402739.4	1.000000	0.490000	9.600000e-01	6.200000e-01	0.770000	0.785339	0.770000	1.000000																										3	Substitution - Missense(3)	p.N426K(3)	upper_aerodigestive_tract(1)|lung(1)|prostate(1)	78						c.(1276-1278)aaC>aaT		catenin (cadherin-associated protein), alpha 2							90.0	91.0	91.0					2																	80646714		2033	4235	6268	SO:0001819	synonymous_variant	1496	0	0					g.chr2:80646714C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1278C>T	chr2.hg19:g.80646714C>T		1					CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000466387.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000541047.1_Silent_p.N426N	p.N426N	NM_001282597.1	NP_001269526.1	1	2	3	2.183349	P26232	CTNA2_HUMAN		8	1283	+			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	1	1	hg19	c.1278C>T		0																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-19.999250	1	0.170000	NM_004389			20	19		311	303	0		1			0	0	68	0		9.999944e-01	0	0	0	0	0	0	20	311
CTNNA2	1496	broad.mit.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	rs529691509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438																																						ENST00000402739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.G932A(1)|p.R883P(1)	skin(2)	78						c.(2791-2793)cGa>cAa		catenin (cadherin-associated protein), alpha 2							130.0	129.0	129.0					2																	80874927		1848	4090	5938	SO:0001583	missense	1496	0	0					g.chr2:80874927G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	chr2.hg19:g.80874927G>A	ENSP00000384638:p.Arg931Gln	1					CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q	p.R931Q	NM_001282597.1	NP_001269526.1	1	2	3	2.183349	P26232	CTNA2_HUMAN		18	2797	+			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	1	1	hg19	c.2792G>A		1	.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	0	CTNNA2	80728438	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1		2	2	2	0		0	0	170		170	168	1	2.060000	-3.142789	1	0.170000	NM_004389			143	142		783	771	1		1	0		0	0	170	0		1	0	0	0	0	1	0	143	783
SUCLG1	8802	broad.mit.edu	37	2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	135					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)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2	0.810000	0.310000	6.800000e-01	4.100000e-01	0.530000	0.551644	0.530000	0.520000																										0				10						c.(403-405)Gca>Tca		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						91.0	87.0	88.0					2																	84668499		2203	4300	6503	SO:0001583	missense	8802	0	0					g.chr2:84668499C>A	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.403G>T	chr2.hg19:g.84668499C>A	ENSP00000377446:p.Ala135Ser	1						p.A135S	NM_003849.3	NP_003840.2	1	2	3	2.183349	P53597	SUCA_HUMAN		4	613	-			Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	1	1	hg19	c.403G>T	CCDS1967.2	0	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633051	0.87660	.	.	ENSG00000163541	ENST00000393868	D	0.85484	-1.99	5.59	5.59	0.84812	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.048024	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82823	2.61	0.80722	D	1	D;D	0.65815	0.995;0.965	D;D	0.87578	0.998;0.955	D	0.93114	0.6519	10	0.62326	D	0.03	4.4456	17.4491	0.87587	0.0:1.0:0.0:0.0	.	135;135	B7Z438;P53597	.;SUCA_HUMAN	S	135	ENSP00000377446:A135S	ENSP00000377446:A135S	A	-	1	0	0	SUCLG1	84522010	84522010	1.000000	0.71417	0.982000	0.44146	0.434000	0.31775	7.769000	0.85360	2.793000	0.96121	0.561000	0.74099	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-16.130400	1	0.170000	NM_003849			16	16		372	371	0		1	1		0	0	64	0		9.999355e-01	9.999170e-01	0	33	0	344	0	16	372
SUCLG1	8802	broad.mit.edu	37	2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	109					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)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999882	0.990000	1.000000																										0				10						c.(325-327)gAa>gCa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						55.0	55.0	55.0					2																	84668576		2203	4300	6503	SO:0001583	missense	8802	0	0					g.chr2:84668576T>G	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.326A>C	chr2.hg19:g.84668576T>G	ENSP00000377446:p.Glu109Ala	1						p.E109A	NM_003849.3	NP_003840.2	1	2	3	2.183349	P53597	SUCA_HUMAN		4	536	-			Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	0	1	hg19	c.326A>C	CCDS1967.2	1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613566	0.28712	.	.	ENSG00000163541	ENST00000393868	D	0.82893	-1.66	5.89	4.72	0.59763	5.89	4.72	0.59763	CoA-binding (2);NAD(P)-binding domain (1);	0.143560	0.64402	N	0.000007	T	0.68265	0.2982	N	0.16201	0.385	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.005;0.007	T	0.59558	-0.7432	10	0.17832	T	0.49	-12.6	11.4718	0.50272	0.0:0.0:0.1508:0.8492	.	109;109	B7Z438;P53597	.;SUCA_HUMAN	A	109	ENSP00000377446:E109A	ENSP00000377446:E109A	E	-	2	0	0	SUCLG1	84522087	84522087	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	4.131000	0.57970	1.027000	0.39758	0.459000	0.35465	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_003849			27	26		168	166	0		1	1		0	0	25	0		1	1	0	95	0	270	0	27	168
TMSB10	9168	broad.mit.edu	37	2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	16					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582																																						ENST00000233143.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997886	0.990000	1.000000																										0				1						c.(46-48)gCc>gTc		thymosin beta 10							67.0	69.0	68.0					2																	85133188		2203	4300	6503	SO:0001583	missense	9168	0	0					g.chr2:85133188C>T		CCDS1970.1	2p11.2	2008-02-25	2008-02-25		ENSG00000034510	ENSG00000034510			11879	protein-coding gene	gene with protein product		188399				3365256, 10487837	Standard	NM_021103		Approved	TB10	uc002sow.1	P63313	OTTHUMG00000130027	ENST00000233143.4:c.47C>T	chr2.hg19:g.85133188C>T	ENSP00000233143:p.Ala16Val	1						p.A16V	NM_021103.3	NP_066926.1	1	2	3	2.183349	P63313	TYB10_HUMAN		2	156	+			P13472|Q596K9	Missense_Mutation	SNP	ENST00000233143.4	1	1	hg19	c.47C>T	CCDS1970.1	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516068	0.64634	.	.	ENSG00000034510	ENST00000233143	T	0.47177	0.85	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.158802	0.40908	D	0.000995	T	0.43590	0.1254	.	.	.	0.40631	D	0.981859	P	0.38300	0.626	B	0.37650	0.255	T	0.42999	-0.9418	9	0.42905	T	0.14	.	16.4497	0.83976	0.0:1.0:0.0:0.0	.	16	P63313	TYB10_HUMAN	V	16	ENSP00000233143:A16V	ENSP00000233143:A16V	A	+	2	0	0	TMSB10	84986699	84986699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.486000	0.83907	0.561000	0.74099	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252302.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.221970	1	0.170000	NM_021103			27	25		213	210	1		1	1		0	0	56	0		1	1	0	1955	0	5628	0	27	213
TCF7L1	83439	broad.mit.edu	37	2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	324	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCCCAGCCTGAGCCCTGC	0.652																																						ENST00000282111.3	0.880000	0.300000	7.200000e-01	4.100000e-01	0.540000	0.569031	0.540000	0.540000																										0				18						c.(970-972)Ctg>Atg		transcription factor 7-like 1 (T-cell specific, HMG-box)							42.0	41.0	41.0					2																	85532507		2203	4300	6503	SO:0001583	missense	83439	0	0					g.chr2:85532507C>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.970C>A	chr2.hg19:g.85532507C>A	ENSP00000282111:p.Leu324Met	1						p.L324M	NM_031283.2	NP_112573.1	1	2	3	2.183349	Q9HCS4	TF7L1_HUMAN		8	1245	+			Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	1	1	hg19	c.970C>A	CCDS1971.1	0	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397591	0.11638	.	.	ENSG00000152284	ENST00000282111	D	0.98280	-4.84	5.18	4.22	0.49857	5.18	4.22	0.49857	.	0.260583	0.36519	N	0.002558	D	0.93119	0.7809	N	0.08118	0	0.28925	N	0.891913	B	0.10296	0.003	B	0.06405	0.002	D	0.87903	0.2692	10	0.46703	T	0.11	.	9.6936	0.40143	0.3492:0.6508:0.0:0.0	.	324	Q9HCS4	TF7L1_HUMAN	M	324	ENSP00000282111:L324M	ENSP00000282111:L324M	L	+	1	2	2	TCF7L1	85386018	85386018	0.915000	0.31059	1.000000	0.80357	0.043000	0.13939	0.246000	0.18160	2.401000	0.81631	0.591000	0.81541	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	0	0	1		2	2	2	0		0	0	43		43	41	1	2.060000	-13.807030	1	0.170000	NM_031283			12	12		274	264	0		1	1		0	0	43	0		9.989693e-01	5.293087e-01	0	2	0	38	0	12	274
TCF7L1	83439	broad.mit.edu	37	2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	527					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692																																						ENST00000282111.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1579-1581)gCt>gTt		transcription factor 7-like 1 (T-cell specific, HMG-box)							30.0	30.0	30.0					2																	85536398		2203	4300	6503	SO:0001583	missense	83439	0	0					g.chr2:85536398C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1580C>T	chr2.hg19:g.85536398C>T	ENSP00000282111:p.Ala527Val	1						p.A527V	NM_031283.2	NP_112573.1	1	2	3	2.183349	Q9HCS4	TF7L1_HUMAN		12	1855	+			Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	1	1	hg19	c.1580C>T	CCDS1971.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688751	0.48097	.	.	ENSG00000152284	ENST00000282111	D	0.98567	-5.0	5.36	3.56	0.40772	5.36	3.56	0.40772	.	0.976044	0.08419	N	0.948663	D	0.95762	0.8621	L	0.40543	1.245	0.37249	D	0.906489	B	0.18310	0.027	B	0.08055	0.003	D	0.91369	0.5118	10	0.33141	T	0.24	.	9.1199	0.36780	0.0:0.7715:0.1479:0.0806	.	527	Q9HCS4	TF7L1_HUMAN	V	527	ENSP00000282111:A527V	ENSP00000282111:A527V	A	+	2	0	0	TCF7L1	85389909	85389909	1.000000	0.71417	0.777000	0.31699	0.606000	0.37113	6.588000	0.74076	0.829000	0.34733	-0.136000	0.14681	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-20.000000	1	0.170000	NM_031283			88	87		259	251	1		1	1		0	0	50	0		1	9.999350e-01	0	14	0	31	0	88	259
RETSAT	54884	broad.mit.edu	37	2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	605					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512																																						ENST00000295802.4	1.000000	0.890000	1	9.900000e-01	0.990000	0.992475	0.990000	1.000000																										0				30						c.(1813-1815)Gca>Aca		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						106.0	109.0	108.0					2																	85570385		2203	4300	6503	SO:0001583	missense	54884	2	121412	31				g.chr2:85570385C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1813G>A	chr2.hg19:g.85570385C>T	ENSP00000295802:p.Ala605Thr	1					RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	p.A605T	NM_017750.3	NP_060220.3	1	2	3	2.183349	Q6NUM9	RETST_HUMAN		11	1925	-			A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	1	1	hg19	c.1813G>A	CCDS1972.1	1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779182	0.02929	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.22945	1.94;1.93	4.79	3.0	0.34707	4.79	3.0	0.34707	.	0.908581	0.09485	N	0.795783	T	0.26412	0.0645	M	0.73598	2.24	0.09310	N	0.999998	B;B;B	0.19445	0.036;0.036;0.021	B;B;B	0.14023	0.01;0.01;0.008	T	0.39035	-0.9633	10	0.15499	T	0.54	-1.6443	6.3913	0.21589	0.0:0.7056:0.0:0.2944	.	544;544;605	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	605;544	ENSP00000295802:A605T;ENSP00000405040:A544T	ENSP00000295802:A605T	A	-	1	0	0	RETSAT	85423896	85423896	0.068000	0.21057	0.140000	0.22221	0.035000	0.12851	0.503000	0.22610	0.634000	0.30469	0.561000	0.74099	GCA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-15.625630	1	0.170000	NM_017750			57	56		570	561	1		1	1		0	0	118	0		1	1	0	76	0	305	0	57	570
RETSAT	54884	broad.mit.edu	37	2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K|RETSAT_ENST00000457495.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	115					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507																																						ENST00000295802.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(343-345)Gaa>Aaa		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						138.0	121.0	127.0					2																	85578815		2203	4300	6503	SO:0001583	missense	54884	0	0					g.chr2:85578815C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.343G>A	chr2.hg19:g.85578815C>T	ENSP00000295802:p.Glu115Lys	1					RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	p.E115K	NM_017750.3	NP_060220.3	1	2	3	2.183349	Q6NUM9	RETST_HUMAN		2	455	-			A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	1	1	hg19	c.343G>A	CCDS1972.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.690342	0.96793	.	.	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.58506	0.33;0.33	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.056021	0.64402	D	0.000001	T	0.55986	0.1955	N	0.10945	0.07	0.80722	D	1	P	0.48503	0.911	P	0.57244	0.816	T	0.63857	-0.6542	10	0.62326	D	0.03	-13.4847	16.6368	0.85061	0.0:1.0:0.0:0.0	.	115	Q6NUM9	RETST_HUMAN	K	115	ENSP00000295802:E115K;ENSP00000263854:E115K	ENSP00000263854:E115K	E	-	1	0	0	RETSAT	85432326	85432326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.637000	0.83313	2.532000	0.85374	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	0	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_017750			166	163		473	447	1		1	1		0	0	107	0		1	1	0	168	0	233	0	166	473
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T	rs562825417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	ENST00000409890.2	+	9	1049	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	128					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547																																						ENST00000409890.2	0.610000	0.320000	5.400000e-01	3.800000e-01	0.450000	0.466883	0.450000	0.450000																										0				12						c.(382-384)Cga>Tga		ELMO/CED-12 domain containing 3							115.0	121.0	119.0					2																	85598230		2203	4300	6503	SO:0001587	stop_gained	84173	3	121412	38				g.chr2:85598230C>T	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.382C>T	chr2.hg19:g.85598230C>T	ENSP00000386304:p.Arg128*	1					ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|RN7SL113P_ENST00000497900.2_RNA	p.R128*			1	2	3	2.183349	Q96FG2	ELMD3_HUMAN		9	1049	+			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Nonsense_Mutation	SNP	ENST00000409890.2	0	1	hg19	c.382C>T	CCDS46352.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.801465	0.99267	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.188144	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.6175	17.5939	0.88005	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000318264:R128X	R	+	1	2	2	ELMOD3	85451741	85451741	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	6.823000	0.75282	2.760000	0.94817	0.655000	0.94253	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	0	1		2	2	2	0		0	0	184		184	184	1	2.060000	-3.371590	1	0.170000	NM_032213			38	38		1023	1004	0		1	1		0	0	184	0		1	6.688153e-01	0	5	0	58	0	38	1023
GGCX	2677	broad.mit.edu	37	2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000430215.3_Missense_Mutation_p.R349C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	406					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)			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)	TGGTGGGAGCGGGAGTGCACC	0.542																																						ENST00000233838.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1216-1218)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)						187.0	164.0	172.0					2																	85780133		2203	4300	6503	SO:0001583	missense	2677	1	121412	37				g.chr2:85780133G>A		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.1216C>T	chr2.hg19:g.85780133G>A	ENSP00000233838:p.Arg406Cys	1					GGCX_ENST00000430215.3_Missense_Mutation_p.R349C|GGCX_ENST00000473665.1_5'UTR	p.R406C	NM_000821.5	NP_000812.2	1	2	3	2.183349	P38435	VKGC_HUMAN		9	1296	-			B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	1	1	hg19	c.1216C>T	CCDS1978.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359350	0.82353	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76071	0.987;0.905;0.964	D	0.96178	0.9128	10	0.56958	D	0.05	-17.0852	16.974	0.86309	0.0:0.0:1.0:0.0	.	349;245;406	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	406;349	ENSP00000233838:R406C;ENSP00000408045:R349C	ENSP00000233838:R406C	R	-	1	0	0	GGCX	85633644	85633644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.033000	0.93741	2.601000	0.87937	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-2.288213	0	0.170000	NM_000821			99	97		540	533	1		1	1		0	0	114	0		1	9.999949e-01	0	28	0	67	0	99	540
TMEM150A	129303	broad.mit.edu	37	2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D			Q86TG1	T150A_HUMAN	transmembrane protein 150A	173					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612																																						ENST00000409668.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(517-519)gCt>gAt		transmembrane protein 150A							74.0	73.0	74.0					2																	85826704		2203	4300	6503	SO:0001583	missense	129303	0	0					g.chr2:85826704G>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.518C>A	chr2.hg19:g.85826704G>T	ENSP00000387292:p.Ala173Asp	1					TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D	p.A173D			1	2	3	2.183349	Q86TG1	T150A_HUMAN		6	985	-			A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	1	1	hg19	c.518C>A	CCDS33233.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784993	0.31593	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.44083	0.93;0.93;0.93	5.23	4.35	0.52113	5.23	4.35	0.52113	.	0.105109	0.64402	D	0.000002	T	0.32285	0.0824	L	0.47716	1.5	0.26903	N	0.967064	P;B	0.39404	0.672;0.154	B;B	0.35073	0.195;0.124	T	0.13072	-1.0523	10	0.18710	T	0.47	-31.071	11.5548	0.50741	0.0878:0.0:0.9122:0.0	.	120;173	Q86TG1-2;Q86TG1	.;T150A_HUMAN	D	120;173;173	ENSP00000302715:A120D;ENSP00000334708:A173D;ENSP00000387292:A173D	ENSP00000302715:A120D	A	-	2	0	0	TMEM150A	85680215	85680215	0.923000	0.31300	0.960000	0.40013	0.986000	0.74619	1.599000	0.36751	1.200000	0.43188	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_153342			112	109		317	313	1		1	1		0	0	92	0		1	1	0	41	0	113	0	112	317
TMEM150A	129303	broad.mit.edu	37	2	85827121	85827121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85827121G>A	ENST00000409668.1	-	5	756	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	97					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TGCCCGTAGCGCAGGAGGCAG	0.652																																						ENST00000409668.1	0.610000	0.170000	4.800000e-01	2.500000e-01	0.350000	0.371823	0.350000	0.330000																										0				7						c.(289-291)Cgc>Tgc		transmembrane protein 150A							72.0	63.0	66.0					2																	85827121		2203	4300	6503	SO:0001583	missense	129303	0	0					g.chr2:85827121G>A	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.289C>T	chr2.hg19:g.85827121G>A	ENSP00000387292:p.Arg97Cys	1					TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C	p.R97C			1	2	3	2.183349	Q86TG1	T150A_HUMAN		5	756	-			A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	0	1	hg19	c.289C>T	CCDS33233.1	0	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195609	0.78902	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668;ENST00000425160	T;T;T	0.51817	0.69;0.69;0.69	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.048755	0.85682	D	0.000000	T	0.72930	0.3522	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.68943	0.629;0.961	T	0.78545	-0.2163	10	0.87932	D	0	-40.4071	12.4743	0.55803	0.0:0.0:0.8329:0.1671	.	44;97	Q86TG1-2;Q86TG1	.;T150A_HUMAN	C	44;97;97;44	ENSP00000302715:R44C;ENSP00000334708:R97C;ENSP00000387292:R97C	ENSP00000302715:R44C	R	-	1	0	0	TMEM150A	85680632	85680632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.736000	0.93811	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	0	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-3.680646	1	0.170000	NM_153342			9	9		329	321	0		1	1		0	0	49	0		9.937253e-01	6.156481e-01	0	2	0	72	0	9	329
SFTPB	6439	broad.mit.edu	37	2	85890797	85890797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000519937.2	-	7	865	c.846C>T	c.(844-846)agC>agT	p.S282S	SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000342375.3_Silent_p.S282S|SFTPB_ENST00000393822.3_Silent_p.S294S			P07988	PSPB_HUMAN	surfactant protein B	282					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662																																						ENST00000519937.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(844-846)agC>agT		surfactant protein B							24.0	28.0	27.0					2																	85890797		2199	4298	6497	SO:0001819	synonymous_variant	6439	0	0					g.chr2:85890797G>A	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.846C>T	chr2.hg19:g.85890797G>A		1					SFTPB_ENST00000393822.3_Silent_p.S294S|SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000342375.3_Silent_p.S282S	p.S282S			1	2	3	2.183349	P07988	PSPB_HUMAN		7	865	-			Q96R04	Silent	SNP	ENST00000519937.2	1	1	hg19	c.846C>T		1	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034165	0.08101	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	1.4	0.22301	5.24	1.4	0.22301	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	2.0E-4	4.0805	0.09924	0.2665:0.0:0.571:0.1625	.	.	.	.	C	279	.	.	R	-	1	0	0	SFTPB	85744308	85744308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	-0.020000	0.14032	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_198843			31	29		62	60	1		1			0	0	23	0		1	0	0	0	0	0	0	31	62
POLR1A	25885	broad.mit.edu	37	2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1289					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)			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						CCTCCCCCAAGCACACCCTGG	0.537																																						ENST00000263857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3865-3867)tgC>tgA		polymerase (RNA) I polypeptide A, 194kDa							194.0	196.0	195.0					2																	86266459		1961	4156	6117	SO:0001587	stop_gained	25885	0	0					g.chr2:86266459G>T	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.3867C>A	chr2.hg19:g.86266459G>T	ENSP00000263857:p.Cys1289*	1					POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*	p.C1289*			1	2	3	2.183349	O95602	RPA1_HUMAN		26	4245	-			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	0	1	hg19	c.3867C>A	CCDS42706.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.307215	0.99545	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.26	4.39	0.52855	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-24.0429	14.2295	0.65882	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1289	.	ENSP00000263857:C1289X	C	-	3	2	2	POLR1A	86119970	86119970	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.664000	0.54525	1.373000	0.46208	0.655000	0.94253	TGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1		2	2	2	0		0	0	225		225	222	1	2.060000	-20.000000	1	0.170000	NM_015425			199	197		1066	1043	1		1	1		0	0	225	0		1	9.970336e-01	0	2	0	46	0	199	1066
POLR1A	25885	broad.mit.edu	37	2	86281383	86281383	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.I696I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	696					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)			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						GGTCCTCTGGGATTATATTTA	0.453																																						ENST00000263857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2086-2088)atC>atA		polymerase (RNA) I polypeptide A, 194kDa							99.0	98.0	98.0					2																	86281383		1917	4140	6057	SO:0001819	synonymous_variant	25885	0	0					g.chr2:86281383G>T	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.2088C>A	chr2.hg19:g.86281383G>T		1					POLR1A_ENST00000409681.1_Silent_p.I696I|POLR1A_ENST00000483538.1_5'UTR	p.I696I			1	2	3	2.183349	O95602	RPA1_HUMAN		15	2466	-			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	1	1	hg19	c.2088C>A	CCDS42706.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_015425			42	42		145	143	1		1	1		0	0	44	0		1	9.974790e-01	0	2	0	33	0	42	145
POLR1A	25885	broad.mit.edu	37	2	86302248	86302248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	ENST00000263857.6	-	12	1894	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	506					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)			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						GCGCTCAGGGCTGTGCGGCTG	0.602																																						ENST00000263857.6	1.000000	0.280000	8.800000e-01	4.300000e-01	0.630000	0.654005	0.630000	1.000000																										0				63						c.(1516-1518)Gcc>Acc		polymerase (RNA) I polypeptide A, 194kDa							34.0	37.0	36.0					2																	86302248		2039	4198	6237	SO:0001583	missense	25885	0	0					g.chr2:86302248C>T	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.1516G>A	chr2.hg19:g.86302248C>T	ENSP00000263857:p.Ala506Thr	1					POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T	p.A506T			1	2	3	2.183349	O95602	RPA1_HUMAN		12	1894	-			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	0	1	hg19	c.1516G>A	CCDS42706.1	0	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513454	0.44660	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65916	-0.18;-0.18	5.01	5.01	0.66863	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.221836	0.46758	D	0.000277	T	0.46658	0.1404	N	0.17474	0.49	0.32586	N	0.527869	P	0.36086	0.536	B	0.42738	0.396	T	0.52396	-0.8581	10	0.14252	T	0.57	-23.0664	8.9405	0.35727	0.0:0.8361:0.0:0.1639	.	506	O95602	RPA1_HUMAN	T	506	ENSP00000263857:A506T;ENSP00000386300:A506T	ENSP00000263857:A506T	A	-	1	0	0	POLR1A	86155759	86155759	0.994000	0.37717	0.947000	0.38551	0.872000	0.50106	2.731000	0.47343	2.606000	0.88127	0.655000	0.94253	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-10.393040	1	0.170000	NM_015425			7	7		141	140	0		1	0		0	0	22	0		9.809576e-01	2.505930e-01	0	0	0	18	0	7	141
POLR1A	25885	broad.mit.edu	37	2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	262					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)			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						AAGGTGTTCGCGGGCACTGGT	0.453																																						ENST00000263857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(784-786)cGc>cAc		polymerase (RNA) I polypeptide A, 194kDa							117.0	114.0	115.0					2																	86310237		1889	4120	6009	SO:0001583	missense	25885	0	0					g.chr2:86310237C>T	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.785G>A	chr2.hg19:g.86310237C>T	ENSP00000263857:p.Arg262His	1					POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H	p.R262H			1	2	3	2.183349	O95602	RPA1_HUMAN		7	1163	-			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	1	1	hg19	c.785G>A	CCDS42706.1	1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450496	0.63290	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68331	-0.32;-0.32	5.87	2.42	0.29668	5.87	2.42	0.29668	RNA polymerase Rpb1, domain 1 (1);	0.328020	0.31660	N	0.007274	T	0.77370	0.4120	M	0.77616	2.38	0.37966	D	0.933144	D;D	0.76494	0.999;0.995	D;D	0.67900	0.954;0.924	T	0.76828	-0.2815	10	0.52906	T	0.07	-2.0575	8.4647	0.32949	0.0:0.4019:0.0:0.5981	.	262;262	B9ZVN9;O95602	.;RPA1_HUMAN	H	262	ENSP00000263857:R262H;ENSP00000386300:R262H	ENSP00000263857:R262H	R	-	2	0	0	POLR1A	86163748	86163748	0.591000	0.26824	0.563000	0.28383	0.945000	0.59286	0.222000	0.17699	0.151000	0.19162	0.655000	0.94253	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_015425			70	69		222	217	1		1	1		0	0	61	0		1	9.942901e-01	0	10	0	18	0	70	222
POLR1A	25885	broad.mit.edu	37	2	86325797	86325797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	123					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)			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						GAACCCTCAGCTGGCAGAGTA	0.532																																						ENST00000263857.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(367-369)caG>caA		polymerase (RNA) I polypeptide A, 194kDa							147.0	149.0	149.0					2																	86325797		1920	4123	6043	SO:0001819	synonymous_variant	25885	0	0					g.chr2:86325797C>T	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.369G>A	chr2.hg19:g.86325797C>T		1					POLR1A_ENST00000409681.1_Silent_p.Q123Q	p.Q123Q			1	2	3	2.183349	O95602	RPA1_HUMAN		3	747	-			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	1	1	hg19	c.369G>A	CCDS42706.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1		2	2	2	0		0	0	213		213	209	1	2.060000	-20.000000	1	0.170000	NM_015425			207	203		917	898	1		1	1		0	0	213	0		1	9.312172e-01	0	2	0	20	0	207	917
PTCD3	55037	broad.mit.edu	37	2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	324					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)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368																																						ENST00000254630.7	1.000000	0.980000	1	9.900000e-01	0.990000	0.998080	0.990000	1.000000																										0				22						c.(970-972)Gtt>Att		pentatricopeptide repeat domain 3							81.0	80.0	80.0					2																	86354302		2203	4300	6503	SO:0001583	missense	55037	0	0					g.chr2:86354302G>A		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.970G>A	chr2.hg19:g.86354302G>A	ENSP00000254630:p.Val324Ile	1					PTCD3_ENST00000409277.3_3'UTR	p.V324I	NM_017952.5	NP_060422.4	1	2	3	2.183349	Q96EY7	PTCD3_HUMAN		13	1036	+			A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	1	1	hg19	c.970G>A	CCDS33235.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503453	0.44558	.	.	ENSG00000132300	ENST00000254630	T	0.30714	1.52	6.17	3.38	0.38709	6.17	3.38	0.38709	.	0.778290	0.13001	N	0.421650	T	0.21550	0.0519	L	0.35341	1.055	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.03829	-1.1000	10	0.21014	T	0.42	-3.1906	8.4877	0.33082	0.1352:0.0:0.7394:0.1253	.	324	Q96EY7	PTCD3_HUMAN	I	324	ENSP00000254630:V324I	ENSP00000254630:V324I	V	+	1	0	0	PTCD3	86207813	86207813	0.996000	0.38824	0.978000	0.43139	0.963000	0.63663	2.311000	0.43717	0.922000	0.37019	0.655000	0.94253	GTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_017952			33	33		271	269	1		1	1		0	0	54	0		1	9.995821e-01	0	26	0	74	0	33	271
IMMT	10989	broad.mit.edu	37	2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T	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	648					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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532																																						ENST00000410111.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1942-1944)aTt>aCt		inner membrane protein, mitochondrial							125.0	121.0	122.0					2																	86371725		1887	4114	6001	SO:0001583	missense	10989	1	120860	34				g.chr2:86371725A>G	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.1943T>C	chr2.hg19:g.86371725A>G	ENSP00000387262:p.Ile648Thr	1					IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T	p.I648T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	1	2	3	2.183349	Q16891	MIC60_HUMAN		15	2330	-			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	1	1	hg19	c.1943T>C	CCDS46355.1	1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894088	0.52121	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.39	4.24	0.50183	5.39	4.24	0.50183	.	0.094982	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.991;0.982;0.995	T	0.62685	-0.6802	10	0.87932	D	0	-7.5923	11.2772	0.49174	0.9289:0.0:0.0711:0.0	.	601;636;637;616;648	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	T	549;637;648;647;601;637;616;262;549	ENSP00000254636:I549T;ENSP00000396899:I637T;ENSP00000387262:I648T;ENSP00000407788:I647T;ENSP00000387227:I601T	ENSP00000254636:I549T	I	-	2	0	0	IMMT	86225236	86225236	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.139000	0.94554	1.075000	0.40932	0.529000	0.55759	ATT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_006839			93	92		541	529	1		1	1		0	0	122	0		1	1	0	65	0	272	0	93	541
REEP1	65055	broad.mit.edu	37	2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	147					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667																																						ENST00000165698.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(439-441)aGa>aTa		receptor accessory protein 1							42.0	36.0	38.0					2																	86459903		2203	4300	6503	SO:0001583	missense	65055	0	0					g.chr2:86459903C>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.440G>T	chr2.hg19:g.86459903C>A	ENSP00000165698:p.Arg147Ile	1					REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I	p.R147I	NM_022912.2	NP_075063.1	1	2	3	2.183349	Q9H902	REEP1_HUMAN		6	583	-			B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	1	1	hg19	c.440G>T	CCDS1989.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765722|4.765722	0.90020|0.90020	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000541910;ENST00000437769|ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D|D;D;D;D;D;D	0.93604|0.88664	-3.25;-3.22|-2.39;-2.41;-1.56;-1.56;-2.38;-1.67	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.045059	.|0.85682	.|D	.|0.000000	D|D	0.91895|0.91895	0.7434|0.7434	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	D|P;D;P	0.61080|0.52996	0.989|0.928;0.957;0.928	P|P;P;P	0.55667|0.56960	0.781|0.65;0.81;0.753	D|D	0.89980|0.89980	0.4100|0.4100	9|10	0.87932|0.32370	D|T	0|0.25	.|.	17.0395|17.0395	0.86484|0.86484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|120;126;147	B7Z4D7|B7Z5R9;F5H7Z9;Q9H902	.|.;.;REEP1_HUMAN	Y|I	69|147;154;120;126;154;120	ENSP00000442681:D69Y;ENSP00000401140:D69Y|ENSP00000165698:R147I;ENSP00000438346:R154I;ENSP00000437567:R120I;ENSP00000443831:R126I;ENSP00000392197:R154I;ENSP00000400607:R120I	ENSP00000401140:D69Y|ENSP00000165698:R147I	D|R	-|-	1|2	0|0	0|0	REEP1|REEP1	86313414|86313414	86313414|86313414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.875000|3.875000	0.56108|0.56108	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_022912			61	61		161	161	1		1	1		0	0	41	0		1	9.963661e-01	0	16	0	10	0	61	161
KDM3A	55818	broad.mit.edu	37	2	86716673	86716673	+	Missense_Mutation	SNP	C	C	A	rs149432098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86716673C>A	ENST00000409556.1	+	24	3829	c.3464C>A	c.(3463-3465)tCt>tAt	p.S1155Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1155	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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)			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						GATGGAGATTCTGACGAACTC	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1	0.770000	0.260000	6.300000e-01	3.500000e-01	0.470000	0.497801	0.470000	0.460000																										0				47						c.(3463-3465)tCt>tAt		lysine (K)-specific demethylase 3A							83.0	78.0	80.0					2																	86716673		2203	4300	6503	SO:0001583	missense	55818	0	0					g.chr2:86716673C>A	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.3464C>A	chr2.hg19:g.86716673C>A	ENSP00000386660:p.Ser1155Tyr	1					KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y	p.S1155Y			1	2	3	2.183349	Q9Y4C1	KDM3A_HUMAN		24	3829	+			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	1	1	hg19	c.3464C>A	CCDS1990.1	0	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982435	0.74474	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.4	4.47	0.54385	5.4	4.47	0.54385	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.166790	0.42682	D	0.000664	T	0.74566	0.3733	N	0.19112	0.55	0.43377	D	0.995473	D;D	0.58970	0.984;0.984	P;P	0.61592	0.891;0.861	T	0.75439	-0.3317	10	0.42905	T	0.14	.	15.8767	0.79170	0.0:0.8649:0.1351:0.0	.	1103;1155	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	1155;1155;1155;1155;1103	ENSP00000386660:S1155Y;ENSP00000323659:S1155Y;ENSP00000386516:S1155Y;ENSP00000438324:S1103Y	ENSP00000323659:S1155Y	S	+	2	0	0	KDM3A	86570184	86570184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.604000	0.61112	2.692000	0.91855	0.655000	0.94253	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-12.756730	1	0.170000	NM_018433			12	11		316	311	0		1	1		0	0	50	0		9.990588e-01	9.653049e-01	0	4	0	148	0	12	316
RNF103	7844	broad.mit.edu	37	2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	586					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)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423																																						ENST00000237455.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1756-1758)aGc>aTc		ring finger protein 103							191.0	182.0	185.0					2																	86831267		2203	4300	6503	SO:0001583	missense	7844	0	0					g.chr2:86831267C>A	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.1757G>T	chr2.hg19:g.86831267C>A	ENSP00000237455:p.Ser586Ile	1					AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	p.S586I	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	1	2	3	2.183349	O00237	RN103_HUMAN		4	2725	-			A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	1	1	hg19	c.1757G>T	CCDS33237.1	1	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580949	0.13686	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.51	4.63	0.57726	5.51	4.63	0.57726	.	0.566379	0.20534	N	0.090448	T	0.29028	0.0721	N	0.22421	0.69	0.35951	D	0.833929	B	0.19583	0.037	B	0.17433	0.018	T	0.25882	-1.0119	10	0.49607	T	0.09	-1.1683	9.7379	0.40399	0.0:0.8259:0.0:0.1741	.	586	O00237	RN103_HUMAN	I	586	ENSP00000237455:S586I	ENSP00000237455:S586I	S	-	2	0	0	RNF103	86684778	86684778	0.861000	0.29849	0.998000	0.56505	0.363000	0.29612	1.594000	0.36697	1.329000	0.45376	0.460000	0.39030	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	1	0	1		2	2	2	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000	NM_005667			284	277		837	826	1		1	1		0	0	212	0		1	1	0	133	0	186	0	284	837
RNF103	7844	broad.mit.edu	37	2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	403					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)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398																																						ENST00000237455.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1207-1209)gCt>gAt		ring finger protein 103							84.0	87.0	86.0					2																	86831816		2203	4300	6503	SO:0001583	missense	7844	0	0					g.chr2:86831816G>T	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.1208C>A	chr2.hg19:g.86831816G>T	ENSP00000237455:p.Ala403Asp	1					AC015971.2_ENST00000439077.1_RNA|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	p.A403D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	1	2	3	2.183349	O00237	RN103_HUMAN		4	2176	-			A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	1	1	hg19	c.1208C>A	CCDS33237.1	1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882521	0.72294	.	.	ENSG00000239305	ENST00000237455	T	0.50277	0.75	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70193	-0.4939	10	0.87932	D	0	-14.2447	19.5934	0.95525	0.0:0.0:1.0:0.0	.	403	O00237	RN103_HUMAN	D	403	ENSP00000237455:A403D	ENSP00000237455:A403D	A	-	2	0	0	RNF103	86685327	86685327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_005667			65	65		317	312	1		1	1		0	0	65	0		1	1	0	73	0	184	0	65	317
RMND5A	64795	broad.mit.edu	37	2	87000470	87000470	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)											kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328																																						ENST00000283632.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e9-1		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							105.0	106.0	106.0					2																	87000470		2203	4300	6503	SO:0001630	splice_region_variant	64795	0	0					g.chr2:87000470G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1113-1G>A	chr2.hg19:g.87000470G>A		1					RMND5A_ENST00000472843.1_Splice_Site		NM_022780.3	NP_073617.1	1	2	3	2.183349	Q9H871	RMD5A_HUMAN		9	1607	+			D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Splice_Site	SNP	ENST00000283632.4	1	1	hg19		CCDS1991.1	1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338521	0.41398	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.28	4.4	0.53042	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1808	0.65574	0.0725:0.0:0.9275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RMND5A	86853981	86853981	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	9.468000	0.97676	1.377000	0.46286	-0.251000	0.11542	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_022780	Intron		46	45		252	248	1		1	1		0	0	54	0		1	5.776365e-01	0	12	0	0	0	46	252
KRCC1	51315	broad.mit.edu	37	2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378																																						ENST00000347055.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(70-72)gCc>gTc		lysine-rich coiled-coil 1							41.0	43.0	42.0					2																	88328012		2203	4299	6502	SO:0001583	missense	51315	0	0					g.chr2:88328012G>A	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.71C>T	chr2.hg19:g.88328012G>A	ENSP00000340083:p.Ala24Val	1						p.A24V	NM_016618.1	NP_057702.1	1	2	3	2.183349	Q9NPI7	KRCC1_HUMAN		4	464	-			Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	1	1	hg19	c.71C>T	CCDS2000.1	1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613043	0.87258	.	.	ENSG00000172086	ENST00000347055	T	0.54479	0.57	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.72070	0.3415	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.87932	D	0	-1.79	17.6132	0.88060	0.0:0.0:1.0:0.0	.	24	Q9NPI7	KRCC1_HUMAN	V	24	ENSP00000340083:A24V	ENSP00000340083:A24V	A	-	2	0	0	KRCC1	88109127	88109127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.961000	0.76042	2.759000	0.94783	0.650000	0.86243	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_016618			73	73		264	253	1		1	1		0	0	45	0		1	1	0	50	0	102	0	73	264
KRCC1	51315	broad.mit.edu	37	2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363																																						ENST00000347055.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(22-24)tAt>tGt		lysine-rich coiled-coil 1							33.0	35.0	34.0					2																	88328060		2201	4298	6499	SO:0001583	missense	51315	0	0					g.chr2:88328060T>C	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.23A>G	chr2.hg19:g.88328060T>C	ENSP00000340083:p.Tyr8Cys	1						p.Y8C	NM_016618.1	NP_057702.1	1	2	3	2.183349	Q9NPI7	KRCC1_HUMAN		4	416	-			Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	1	1	hg19	c.23A>G	CCDS2000.1	1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.915994	0.52546	.	.	ENSG00000172086	ENST00000347055	T	0.38560	1.13	5.99	1.73	0.24493	5.99	1.73	0.24493	.	0.366091	0.24720	N	0.036157	T	0.57110	0.2031	M	0.75777	2.31	0.44995	D	0.998013	D	0.89917	1.0	D	0.66497	0.944	T	0.57283	-0.7838	10	0.72032	D	0.01	.	8.1035	0.30872	0.1264:0.0:0.2328:0.6408	.	8	Q9NPI7	KRCC1_HUMAN	C	8	ENSP00000340083:Y8C	ENSP00000340083:Y8C	Y	-	2	0	0	KRCC1	88109175	88109175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.751000	0.38339	0.477000	0.27464	0.533000	0.62120	TAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_016618			54	52		217	207	1		1	1		0	0	43	0		1	1	0	39	0	68	0	54	217
SMYD1	150572	broad.mit.edu	37	2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A	rs556249832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000419482.2	+	2	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|MIR4780_ENST00000584268.1_RNA	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	76	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)			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						TACTGCGACCGCACCTGCCAG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					ENST00000419482.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(226-228)cGc>cAc		SET and MYND domain containing 1							111.0	93.0	99.0					2																	88383924		2203	4300	6503	SO:0001583	missense	150572	2	121412	34				g.chr2:88383924G>A	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.227G>A	chr2.hg19:g.88383924G>A	ENSP00000393453:p.Arg76His	1					SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H	p.R76H	NM_198274.3	NP_938015.1	1	2	3	2.183349	Q8NB12	SMYD1_HUMAN		2	312	+			A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	1	1	hg19	c.227G>A	CCDS33240.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.173281	0.94807	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.15718	2.4;2.4;2.4	5.63	5.63	0.86233	5.63	5.63	0.86233	SET domain (2);Zinc finger, MYND-type (3);	0.057799	0.64402	D	0.000002	T	0.46268	0.1384	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.91	T	0.45145	-0.9281	10	0.56958	D	0.05	-22.6217	18.6665	0.91492	0.0:0.0:1.0:0.0	.	76;76	Q8NB12;C9JUP3	SMYD1_HUMAN;.	H	76	ENSP00000393453:R76H;ENSP00000407888:R76H;ENSP00000387482:R76H	ENSP00000393453:R76H	R	+	2	0	0	SMYD1	88165039	88165039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.655000	0.90218	0.555000	0.69702	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.269091	1	0.170000	XM_097915			98	98		371	364	1		1	0		0	0	92	0		1	4.434371e-02	0	0	0	2	0	98	371
SMYD1	150572	broad.mit.edu	37	2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000419482.2	+	3	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	158	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)			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						TGCAGTACTGGCCGCCGCAGA	0.607																																						ENST00000419482.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(472-474)tgG>tgA		SET and MYND domain containing 1							121.0	84.0	97.0					2																	88387540		2203	4300	6503	SO:0001587	stop_gained	150572	0	0					g.chr2:88387540G>A	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.474G>A	chr2.hg19:g.88387540G>A	ENSP00000393453:p.Trp158*	1					SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*	p.W158*	NM_198274.3	NP_938015.1	1	2	3	2.183349	Q8NB12	SMYD1_HUMAN		3	559	+			A0AV30|A6NE13	Nonsense_Mutation	SNP	ENST00000419482.2	0	1	hg19	c.474G>A	CCDS33240.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.020194	0.97211	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	.	.	.	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5508	17.7216	0.88353	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000393453:W158X	W	+	3	0	0	SMYD1	88168655	88168655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.481000	0.83766	0.561000	0.74099	TGG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	XM_097915			95	95		299	291	1		1			0	0	61	0		1	0	0	0	0	0	0	95	299
SMYD1	150572	broad.mit.edu	37	2	88405903	88405903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000419482.2	+	8	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_ENST00000444564.2_Silent_p.N334N|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	347					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)			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						CTGACACCAACATCTACATGC	0.552																																						ENST00000419482.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1039-1041)aaC>aaT		SET and MYND domain containing 1							182.0	137.0	152.0					2																	88405903		2203	4300	6503	SO:0001819	synonymous_variant	150572	0	0					g.chr2:88405903C>T	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.1041C>T	chr2.hg19:g.88405903C>T		1					SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N334N	p.N347N	NM_198274.3	NP_938015.1	1	2	3	2.183349	Q8NB12	SMYD1_HUMAN		8	1126	+			A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	1	1	hg19	c.1041C>T	CCDS33240.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	XM_097915			46	45		233	227	1		1			0	0	54	0		1	0	0	0	0	0	0	46	233
THNSL2	55258	broad.mit.edu	37	2	88474333	88474333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000324166.5	+	2	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	133					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512																																						ENST00000324166.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(397-399)aaG>aaA		threonine synthase-like 2 (S. cerevisiae)							176.0	137.0	150.0					2																	88474333		2203	4300	6503	SO:0001819	synonymous_variant	55258	0	0					g.chr2:88474333G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.399G>A	chr2.hg19:g.88474333G>A		1					THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000402102.1_Silent_p.K133K	p.K133K	NM_018271.4	NP_060741.3	1	2	3	2.183349	Q86YJ6	THNS2_HUMAN		2	2090	+			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	1	1	hg19	c.399G>A	CCDS2002.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_018271			102	100		327	317	1		1	0		0	0	84	0		1	9.929041e-01	0	0	0	27	0	102	327
THNSL2	55258	broad.mit.edu	37	2	88482594	88482594	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Splice_Site	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)						2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527																																						ENST00000324166.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.e6+2		threonine synthase-like 2 (S. cerevisiae)							76.0	69.0	71.0					2																	88482594		2203	4300	6503	SO:0001630	splice_region_variant	55258	0	0					g.chr2:88482594T>G		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1077+2T>G	chr2.hg19:g.88482594T>G		1					THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Splice_Site		NM_018271.4	NP_060741.3	1	2	3	2.183349	Q86YJ6	THNS2_HUMAN		6	2768	+			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Splice_Site	SNP	ENST00000324166.5	1	1	hg19		CCDS2002.2	1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319031	0.41096	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2669	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	THNSL2	88263709	88263709	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	6.965000	0.76067	2.210000	0.71456	0.459000	0.35465	.	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_018271	Intron		43	43		166	164	1		1	0		0	0	49	0		1	0	0	0	0	1	0	43	166
THNSL2	55258	broad.mit.edu	37	2	88485522	88485522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000324166.5	+	8	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	445					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632																																						ENST00000324166.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1333-1335)gaG>gaA		threonine synthase-like 2 (S. cerevisiae)							47.0	53.0	51.0					2																	88485522		2195	4283	6478	SO:0001819	synonymous_variant	55258	0	0					g.chr2:88485522G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1335G>A	chr2.hg19:g.88485522G>A		1					THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000449349.1_3'UTR	p.E445E	NM_018271.4	NP_060741.3	1	2	3	2.183349	Q86YJ6	THNS2_HUMAN		8	3026	+			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	1	1	hg19	c.1335G>A	CCDS2002.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_018271			24	23		67	66	1		1	0		0	0	23	0		9.999999e-01	9.955928e-01	0	0	0	28	0	24	67
EIF2AK3	9451	broad.mit.edu	37	2	88857381	88857381	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88857381G>T	ENST00000303236.3	-	17	3525	c.3224C>A	c.(3223-3225)gCt>gAt	p.A1075D	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1075	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ovary(3)	3						CTCAAATACAGCATTTTCAAT	0.413																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3	0.470000	0.190000	4.000000e-01	2.400000e-01	0.310000	0.325929	0.310000	0.300000																										0				3						c.(3223-3225)gCt>gAt		eukaryotic translation initiation factor 2-alpha kinase 3							197.0	190.0	193.0					2																	88857381		2203	4300	6503	SO:0001583	missense	9451	0	0					g.chr2:88857381G>T	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.3224C>A	chr2.hg19:g.88857381G>T	ENSP00000307235:p.Ala1075Asp	1					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	p.A1075D	NM_004836.5	NP_004827.4	1	2	3	2.183349	Q9NZJ5	E2AK3_HUMAN		17	3525	-			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	0	1	hg19	c.3224C>A	CCDS33241.1	0	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505624	0.64410	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73897	2.11;2.11;-0.79	5.65	5.65	0.86999	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251518	0.39909	N	0.001238	T	0.57902	0.2085	N	0.08118	0	0.45791	D	0.998673	B	0.15930	0.015	B	0.12156	0.007	T	0.53143	-0.8480	10	0.15952	T	0.53	-9.8721	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1075	Q9NZJ5	E2AK3_HUMAN	D	924;1075;924;954	ENSP00000408325:A924D;ENSP00000307235:A1075D;ENSP00000412076:A954D	ENSP00000307235:A1075D	A	-	2	0	0	EIF2AK3	88638496	88638496	1.000000	0.71417	0.185000	0.23176	0.697000	0.40408	7.825000	0.86693	2.824000	0.97209	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-2.847827	1	0.170000	NM_004836			19	19		759	753	0		1	1		0	0	126	0		9.999898e-01	8.620706e-01	0	7	0	136	0	19	759
EIF2AK3	9451	broad.mit.edu	37	2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ovary(3)	3						GTGAACTGGGCTGGAGTTTTT	0.408																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3	0.480000	0.210000	4.100000e-01	2.700000e-01	0.330000	0.344888	0.330000	0.330000																										0				3						c.(2626-2628)caG>caT		eukaryotic translation initiation factor 2-alpha kinase 3							176.0	173.0	174.0					2																	88874373		2203	4300	6503	SO:0001583	missense	9451	0	0					g.chr2:88874373C>A	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.2628G>T	chr2.hg19:g.88874373C>A	ENSP00000307235:p.Gln876His	1					EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|AC104134.2_ENST00000413234.1_RNA	p.Q876H	NM_004836.5	NP_004827.4	1	2	3	2.183349	Q9NZJ5	E2AK3_HUMAN		13	2929	-			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	1	1	hg19	c.2628G>T	CCDS33241.1	0	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443500	0.43429	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74842	-0.76;-0.7;-0.88	5.56	4.68	0.58851	5.56	4.68	0.58851	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.446433	0.24662	N	0.036625	T	0.44871	0.1314	N	0.01576	-0.805	0.41466	D	0.988071	B	0.11235	0.004	B	0.09377	0.004	T	0.37663	-0.9696	10	0.13853	T	0.58	-10.8257	11.0365	0.47804	0.1293:0.8023:0.0:0.0684	.	876	Q9NZJ5	E2AK3_HUMAN	H	725;876;725;755	ENSP00000408325:Q725H;ENSP00000307235:Q876H;ENSP00000412076:Q755H	ENSP00000307235:Q876H	Q	-	3	2	2	EIF2AK3	88655488	88655488	0.967000	0.33354	1.000000	0.80357	0.994000	0.84299	0.032000	0.13732	1.344000	0.45657	0.655000	0.94253	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-2.682838	1	0.170000	NM_004836			24	24		896	873	0		1	1		0	0	156	0		9.999995e-01	9.656483e-01	0	17	0	189	0	24	896
EIF2AK3	9451	broad.mit.edu	37	2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	713	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(2137-2139)Gct>Tct		eukaryotic translation initiation factor 2-alpha kinase 3							160.0	164.0	163.0					2																	88874864		2203	4300	6503	SO:0001583	missense	9451	0	0					g.chr2:88874864C>A	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.2137G>T	chr2.hg19:g.88874864C>A	ENSP00000307235:p.Ala713Ser	1					EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|AC104134.2_ENST00000413234.1_RNA	p.A713S	NM_004836.5	NP_004827.4	1	2	3	2.183349	Q9NZJ5	E2AK3_HUMAN		13	2438	-			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	1	1	hg19	c.2137G>T	CCDS33241.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685924	0.47991	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73469	-0.63;-0.57;-0.75	6.06	6.06	0.98353	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159141	0.56097	D	0.000022	T	0.59376	0.2189	L	0.28740	0.885	0.47737	D	0.999505	B	0.18741	0.03	B	0.15484	0.013	T	0.53387	-0.8446	10	0.10902	T	0.67	-23.204	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	713	Q9NZJ5	E2AK3_HUMAN	S	562;713;562;592	ENSP00000408325:A562S;ENSP00000307235:A713S;ENSP00000412076:A592S	ENSP00000307235:A713S	A	-	1	0	0	EIF2AK3	88655979	88655979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.882000	0.98803	0.655000	0.94253	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	1		19	5	2	1		1	1	184		184	181	1	2.060000	-20.000000	1	0.170000	NM_004836			265	264		756	739	1		1	1		1	0	184	0		1	1	0	30	0	96	0	265	756
EIF2AK3	9451	broad.mit.edu	37	2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	327					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)			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3	1.000000	0.710000	1	8.300000e-01	0.960000	0.933169	0.960000	1.000000																										0				3						c.(979-981)gGa>gAa		eukaryotic translation initiation factor 2-alpha kinase 3							164.0	151.0	155.0					2																	88890358		2203	4300	6503	SO:0001583	missense	9451	0	0					g.chr2:88890358C>T	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.980G>A	chr2.hg19:g.88890358C>T	ENSP00000307235:p.Gly327Glu	1					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	p.G327E	NM_004836.5	NP_004827.4	1	2	3	2.183349	Q9NZJ5	E2AK3_HUMAN		5	1281	-			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	1	1	hg19	c.980G>A	CCDS33241.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972414	0.34848	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.049969	0.85682	D	0.000000	T	0.79793	0.4507	L	0.56396	1.775	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.74922	-0.3499	10	0.31617	T	0.26	-28.1707	20.2147	0.98293	0.0:1.0:0.0:0.0	.	327	Q9NZJ5	E2AK3_HUMAN	E	176;327;176;206	ENSP00000408325:G176E;ENSP00000307235:G327E;ENSP00000412076:G206E	ENSP00000307235:G327E	G	-	2	0	0	EIF2AK3	88671473	88671473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	2.785000	0.95823	0.591000	0.81541	GGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-10.644060	1	0.170000	NM_004836			43	41		524	514	0		1	1		0	0	97	0		1	9.975538e-01	0	8	0	104	0	43	524
TEKT4	150483	broad.mit.edu	37	2	95537600	95537600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	TEKT4_ENST00000427593.2_Silent_p.G92G|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	92					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687																																						ENST00000295201.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(274-276)ggC>ggT		tektin 4							15.0	14.0	14.0					2																	95537600		2189	4285	6474	SO:0001819	synonymous_variant	150483	0	0					g.chr2:95537600C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.276C>T	chr2.hg19:g.95537600C>T		1					AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	p.G92G	NM_144705.2	NP_653306.1	1	2	3	2.183349	Q8WW24	TEKT4_HUMAN		1	413	+				Silent	SNP	ENST00000295201.4	1	1	hg19	c.276C>T	CCDS2005.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_144705			47	46		86	85	1		1			0	0	25	0		1	0	0	0	0	0	0	47	86
TEKT4	150483	broad.mit.edu	37	2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	130					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657																																						ENST00000295201.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				28						c.(388-390)Ctg>Atg		tektin 4							17.0	15.0	16.0					2																	95537712		2190	4283	6473	SO:0001583	missense	150483	0	0					g.chr2:95537712C>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.388C>A	chr2.hg19:g.95537712C>A	ENSP00000295201:p.Leu130Met	1					AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	p.L130M	NM_144705.2	NP_653306.1	1	2	3	2.183349	Q8WW24	TEKT4_HUMAN		1	525	+				Missense_Mutation	SNP	ENST00000295201.4	0	1	hg19	c.388C>A	CCDS2005.1	1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077103	0.36662	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.04406	3.63;3.63	1.84	1.84	0.25277	1.84	1.84	0.25277	.	0.000000	0.64402	D	0.000002	T	0.17577	0.0422	M	0.85462	2.755	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.00638	-1.1632	10	0.56958	D	0.05	-0.3095	4.3788	0.11284	0.0:0.7866:0.0:0.2134	.	130	Q8WW24	TEKT4_HUMAN	M	130	ENSP00000295201:L130M;ENSP00000407596:L130M	ENSP00000295201:L130M	L	+	1	2	2	TEKT4	94901439	94901439	0.968000	0.33430	0.996000	0.52242	0.156000	0.22039	1.976000	0.40579	1.015000	0.39444	0.456000	0.33151	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_144705			16	16		71	70	1		1			0	0	11	0		9.999586e-01	0	0	0	0	0	0	16	71
MAL	4118	broad.mit.edu	37	2	95715347	95715347	+	Missense_Mutation	SNP	G	G	A	rs11553832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95715347G>A	ENST00000309988.4	+	3	392	c.283G>A	c.(283-285)Gct>Act	p.A95T	AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	95	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACTGCACCGCTGCCCTCTT	0.622																																						ENST00000309988.4	0.360000	0.120000	3.000000e-01	1.700000e-01	0.220000	0.238234	0.220000	0.220000																										0				10						c.(283-285)Gct>Act		mal, T-cell differentiation protein							141.0	126.0	131.0					2																	95715347		2203	4300	6503	SO:0001583	missense	4118	1	121412	29				g.chr2:95715347G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.283G>A	chr2.hg19:g.95715347G>A	ENSP00000310880:p.Ala95Thr	1					AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	p.A95T	NM_002371.3	NP_002362.1	1	2	3	2.183349	P21145	MAL_HUMAN		3	392	+			Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	0	1	hg19	c.283G>A	CCDS2006.1	0	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478948	0.44044	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	T	0.27557	1.66	5.59	4.7	0.59300	5.59	4.7	0.59300	Marvel (1);MARVEL-like domain (1);	0.252264	0.45606	D	0.000360	T	0.29126	0.0724	L	0.49126	1.545	0.80722	D	1	P;P	0.49783	0.487;0.928	B;B	0.42343	0.137;0.384	T	0.05225	-1.0898	10	0.51188	T	0.08	.	10.7323	0.46104	0.089:0.0:0.911:0.0	.	39;95	P21145-3;P21145	.;MAL_HUMAN	T	95;39	ENSP00000310880:A95T	ENSP00000310880:A95T	A	+	1	0	0	MAL	95079074	95079074	1.000000	0.71417	0.367000	0.25926	0.249000	0.25844	6.214000	0.72200	1.347000	0.45714	0.561000	0.74099	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	0	0	1		2	2	2	0		0	0	167		167	166	1	2.060000	-2.409292	0	0.170000	NM_002371			15	16		837	819	0		1	0		0	0	167	0		9.998485e-01	1.101881e-03	0	0	0	3	0	15	837
ZNF514	84874	broad.mit.edu	37	2	95818951	95818951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517																																						ENST00000295208.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994026	0.990000	1.000000																										0				11						c.(46-48)ggG>ggA		zinc finger protein 514							81.0	77.0	78.0					2																	95818951		2203	4300	6503	SO:0001819	synonymous_variant	84874	0	0					g.chr2:95818951C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.48G>A	chr2.hg19:g.95818951C>T		1					ZNF514_ENST00000411425.1_Silent_p.G16G	p.G16G	NM_032788.1	NP_116177.1	1	2	3	2.183349	Q96K75	ZN514_HUMAN		3	510	-			Q5JPJ3	Silent	SNP	ENST00000295208.2	1	1	hg19	c.48G>A	CCDS2011.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-13.882720	1	0.170000	NM_032788			42	41		396	385	0		1	1		0	0	75	0		1	5.617320e-01	0	2	0	17	0	42	396
ZNF2	7549	broad.mit.edu	37	2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000340539.5	+	5	1288	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	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)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453																																						ENST00000340539.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(826-828)Cac>Tac		zinc finger protein 2							85.0	94.0	91.0					2																	95847399		2185	4294	6479	SO:0001583	missense	7549	0	0					g.chr2:95847399C>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.826C>T	chr2.hg19:g.95847399C>T	ENSP00000345392:p.His276Tyr	1					ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y	p.H276Y	NM_021088.2	NP_066574	1	2	3	2.183349	Q9BSG1	ZNF2_HUMAN		5	1288	+		Ovarian(717;0.00768)	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	1	1	hg19	c.826C>T	CCDS42712.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562794	0.86335	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.16	5.16	0.70880	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000076	D	0.95799	0.8633	H	0.96777	3.88	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.96945	0.9690	10	0.87932	D	0	-22.5568	16.1933	0.82006	0.0:1.0:0.0:0.0	.	238;234;275	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	234;276;196;238;289	ENSP00000381178:H234Y;ENSP00000345392:H276Y;ENSP00000406017:H196Y;ENSP00000295210:H238Y;ENSP00000411051:H289Y	ENSP00000295210:H238Y	H	+	1	0	0	ZNF2	95211126	95211126	1.000000	0.71417	0.945000	0.38365	0.978000	0.69477	5.881000	0.69706	2.696000	0.92011	0.655000	0.94253	CAC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_021088			93	92		473	466	1		1	1		0	0	90	0		1	9.403533e-01	0	4	0	22	0	93	473
PROM2	150696	broad.mit.edu	37	2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687																																						ENST00000317620.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(328-330)Gct>Act		prominin 2							23.0	34.0	30.0					2																	95941711		2202	4298	6500	SO:0001583	missense	150696	1	121354	23				g.chr2:95941711G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.328G>A	chr2.hg19:g.95941711G>A	ENSP00000318270:p.Ala110Thr	1					PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron	p.A110T	NM_001165978.1	NP_001159450.1	1	2	3	2.183349	Q8N271	PROM2_HUMAN		3	461	+			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	1	1	hg19	c.328G>A	CCDS2012.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633838	0.47049	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.77	3.82	0.43975	4.77	3.82	0.43975	.	0.000000	0.64402	D	0.000013	T	0.64091	0.2567	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.25106	T	0.35	-9.3479	10.0963	0.42478	0.0:0.2043:0.7957:0.0	.	110	Q8N271	PROM2_HUMAN	T	110	ENSP00000385716:A110T;ENSP00000318520:A110T;ENSP00000318270:A110T;ENSP00000442542:A110T	ENSP00000318270:A110T	A	+	1	0	0	PROM2	95305438	95305438	0.154000	0.22792	0.447000	0.26932	0.008000	0.06430	2.125000	0.42016	2.176000	0.68965	0.462000	0.41574	GCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_144707			39	39		116	114	1		1	0		0	0	19	0		1	3.771243e-01	0	0	0	5	0	39	116
PROM2	150696	broad.mit.edu	37	2	95944794	95944794	+	Silent	SNP	G	G	A	rs149982705	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95944794G>A	ENST00000317620.9	+	10	1309	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	PROM2_ENST00000542147.1_Silent_p.P392P|PROM2_ENST00000403131.2_Silent_p.P392P|PROM2_ENST00000317668.4_Silent_p.P392P	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	392					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGGTTCCCGGGCTTGGAGG	0.642													G|||	19	0.00379393	0.0144	0.0	5008	,	,		13737	0.0		0.0	False		,,,				2504	0.0					ENST00000317620.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1174-1176)ccG>ccA		prominin 2		G	,,	53,4353	47.5+/-82.1	0,53,2150	32.0	35.0	34.0		1176,1176,1176	-7.3	0.0	2	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,54,6449	AA,AG,GG		0.0116,1.2029,0.4152	,,	392/835,392/835,392/835	95944794	54,12952	2203	4300	6503	SO:0001819	synonymous_variant	150696	148	121404	51				g.chr2:95944794G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1176G>A	chr2.hg19:g.95944794G>A		1					PROM2_ENST00000542147.1_Silent_p.P392P|PROM2_ENST00000317668.4_Silent_p.P392P|PROM2_ENST00000403131.2_Silent_p.P392P	p.P392P	NM_001165978.1	NP_001159450.1	1	2	3	2.183349	Q8N271	PROM2_HUMAN		10	1309	+			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	1	0	hg19	c.1176G>A	CCDS2012.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-2.695300	1	0.170000	NM_144707			71	70		239	236	1		1	1		0	0	46	0		1	5.043735e-01	0	2	0	5	0	71	239
PROM2	150696	broad.mit.edu	37	2	95945719	95945719	+	Silent	SNP	C	C	T	rs140258551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	467					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.G467G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18303	0.0		0.0	False		,,,				2504	0.001					ENST00000317620.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G467G(1)	large_intestine(1)	32						c.(1399-1401)ggC>ggT		prominin 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	56.0	48.0	51.0		1401,1401,1401	3.5	1.0	2	dbSNP_134	51	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,,	467/835,467/835,467/835	95945719	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	150696	19	121204	43				g.chr2:95945719C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1401C>T	chr2.hg19:g.95945719C>T		1					PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G	p.G467G	NM_001165978.1	NP_001159450.1	1	2	3	2.183349	Q8N271	PROM2_HUMAN		11	1534	+			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	1	1	hg19	c.1401C>T	CCDS2012.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.523851	1	0.170000	NM_144707			62	59		239	238	1		1	0		0	0	58	0		1	5.841963e-01	0	0	0	9	0	62	239
PROM2	150696	broad.mit.edu	37	2	95952933	95952933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95952933C>A	ENST00000317620.9	+	19	2280	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	716					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCTGCCTGCCTGGGCA	0.597																																						ENST00000317620.9	0.830000	0.200000	6.400000e-01	3.100000e-01	0.460000	0.484987	0.460000	0.420000																										0				32						c.(2146-2148)cCt>cAt		prominin 2							57.0	55.0	56.0					2																	95952933		2203	4300	6503	SO:0001583	missense	150696	0	0					g.chr2:95952933C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2147C>A	chr2.hg19:g.95952933C>A	ENSP00000318270:p.Pro716His	1					PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H|PROM2_ENST00000403131.2_Missense_Mutation_p.P716H	p.P716H	NM_001165978.1	NP_001159450.1	1	2	3	2.183349	Q8N271	PROM2_HUMAN		19	2280	+			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	0	1	hg19	c.2147C>A	CCDS2012.1	0	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449748	0.63290	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.98	4.1	0.47936	4.98	4.1	0.47936	.	0.173678	0.40908	D	0.000983	T	0.60196	0.2250	M	0.76574	2.34	0.38292	D	0.942739	D	0.89917	1.0	D	0.87578	0.998	T	0.64002	-0.6509	10	0.45353	T	0.12	-7.114	9.033	0.36271	0.0:0.9003:0.0:0.0997	.	716	Q8N271	PROM2_HUMAN	H	716;716;716;667	ENSP00000385716:P716H;ENSP00000318520:P716H;ENSP00000318270:P716H;ENSP00000442542:P667H	ENSP00000318270:P716H	P	+	2	0	0	PROM2	95316660	95316660	0.756000	0.28383	0.844000	0.33320	0.988000	0.76386	1.608000	0.36847	1.313000	0.45069	0.561000	0.74099	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	0	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-9.009530	1	0.170000	NM_144707			7	6		198	193	0		1	0		0	0	39	0		9.790302e-01	4.822877e-02	0	0	0	9	0	7	198
KCNIP3	30818	broad.mit.edu	37	2	96040138	96040138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602																																						ENST00000295225.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(274-276)gaG>gaA		Kv channel interacting protein 3, calsenilin							87.0	85.0	85.0					2																	96040138		2203	4300	6503	SO:0001819	synonymous_variant	30818	0	0					g.chr2:96040138G>A	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.276G>A	chr2.hg19:g.96040138G>A		1					KCNIP3_ENST00000360990.3_Silent_p.E92E|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E	p.E92E	NM_013434.4	NP_038462.1	1	2	3	2.183349	Q9Y2W7	CSEN_HUMAN		3	411	+			H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	1	1	hg19	c.276G>A	CCDS2013.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_013434			61	61		242	235	1		1	0		0	0	59	0		1	4.185149e-02	0	1	0	1	0	61	242
GPAT2	150763	broad.mit.edu	37	2	96688928	96688928	+	Missense_Mutation	SNP	C	C	T	rs551982593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	ENST00000434632.1	-	20	2534	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H|GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	692					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCTGAGCAGGCGGCAGAGGAA	0.652													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0					ENST00000434632.1	1.000000	0.340000	1	5.400000e-01	0.810000	0.786634	0.810000	1.000000																										0				16						c.(2074-2076)cGc>cAc		glycerol-3-phosphate acyltransferase 2, mitochondrial							13.0	17.0	16.0					2																	96688928		1817	4047	5864	SO:0001583	missense	150763	3	120140	29				g.chr2:96688928C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2075G>A	chr2.hg19:g.96688928C>T	ENSP00000389395:p.Arg692His	1					GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Intron	p.R692H			1	2	3	2.183349	Q6NUI2	GPAT2_HUMAN		20	2534	-			Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	0	1	hg19	c.2075G>A	CCDS42714.1	0	.	.	.	.	.	.	.	.	.	.	c	17.52	3.411002	0.62399	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.80123	-1.34;-1.34;-0.36	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.381151	0.27411	N	0.019488	D	0.87807	0.6270	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;0.965;0.953;0.999	D;B;B;D	0.70716	0.97;0.374;0.267;0.957	D	0.87059	0.2152	10	0.44086	T	0.13	-11.9956	16.7485	0.85479	0.0:1.0:0.0:0.0	.	621;698;692;621	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	H	692;692;621	ENSP00000352547:R692H;ENSP00000389395:R692H;ENSP00000393770:R621H	ENSP00000352547:R692H	R	-	2	0	0	GPAT2	96052655	96052655	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.011000	0.49567	2.569000	0.86673	0.637000	0.83480	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	1	0	0		2	2	2	0		0	0	16		16	22	1	2.060000	-4.581217	1	0.170000	NM_207328			6	3		93	81	0		1	1		0	0	16	0		9.451875e-01	6.207648e-01	0	2	0	30	0	6	93
GPAT2	150763	broad.mit.edu	37	2	96688941	96688941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688941G>A	ENST00000434632.1	-	20	2521	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F|GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	688					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGAGGAAAAGAAAGAAATCT	0.662																																						ENST00000434632.1	1.000000	0.360000	1	5.700000e-01	0.850000	0.810616	0.850000	1.000000																										0				16						c.(2062-2064)Ctt>Ttt		glycerol-3-phosphate acyltransferase 2, mitochondrial							16.0	18.0	18.0					2																	96688941		1838	4076	5914	SO:0001583	missense	150763	0	0					g.chr2:96688941G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2062C>T	chr2.hg19:g.96688941G>A	ENSP00000389395:p.Leu688Phe	1					GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Intron	p.L688F			1	2	3	2.183349	Q6NUI2	GPAT2_HUMAN		20	2521	-			Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	0	1	hg19	c.2062C>T	CCDS42714.1	1	.	.	.	.	.	.	.	.	.	.	g	15.40	2.822033	0.50739	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.77229	-1.08;-1.08;-0.07	5.44	4.54	0.55810	5.44	4.54	0.55810	.	0.218476	0.39544	N	0.001334	T	0.79811	0.4510	L	0.38531	1.155	0.80722	D	1	D;B;D;D	0.71674	0.998;0.155;0.959;0.995	D;B;P;D	0.66351	0.943;0.038;0.734;0.919	T	0.79729	-0.1681	10	0.56958	D	0.05	-24.6156	9.0082	0.36124	0.0:0.1622:0.6697:0.168	.	617;694;688;617	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	F	688;688;617	ENSP00000352547:L688F;ENSP00000389395:L688F;ENSP00000393770:L617F	ENSP00000352547:L688F	L	-	1	0	0	GPAT2	96052668	96052668	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.859000	0.39418	1.267000	0.44247	0.637000	0.83480	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	0	0	0		2	2	2	0		0	0	10		10	15	1	2.060000	-10.680510	1	0.170000	NM_207328			6	5		88	71	0		1	1		0	0	10	0		9.373946e-01	6.870393e-01	0	2	0	33	0	6	88
GPAT2	150763	broad.mit.edu	37	2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D|GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	402					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617																																						ENST00000434632.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1204-1206)gaG>gaT		glycerol-3-phosphate acyltransferase 2, mitochondrial							33.0	33.0	33.0					2																	96691710		1977	4159	6136	SO:0001583	missense	150763	0	0					g.chr2:96691710C>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1206G>T	chr2.hg19:g.96691710C>A	ENSP00000389395:p.Glu402Asp	1					GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D	p.E402D			1	2	3	2.183349	Q6NUI2	GPAT2_HUMAN		13	1665	-			Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	1	1	hg19	c.1206G>T	CCDS42714.1	1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.293477	0.60086	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.80214	-1.35;-1.35;-0.39;-1.34	4.7	1.81	0.25067	4.7	1.81	0.25067	.	0.065530	0.64402	D	0.000008	D	0.83156	0.5193	M	0.65498	2.005	0.29525	N	0.853173	D;D;D;D;P	0.69078	0.971;0.997;0.991;0.997;0.565	P;P;P;P;P	0.61201	0.79;0.885;0.798;0.885;0.569	T	0.75803	-0.3189	10	0.40728	T	0.16	-15.498	5.8985	0.18953	0.0:0.6541:0.0:0.3459	.	331;402;402;402;331	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	402;402;331;402	ENSP00000352547:E402D;ENSP00000389395:E402D;ENSP00000393770:E331D;ENSP00000366341:E402D	ENSP00000352547:E402D	E	-	3	2	2	GPAT2	96055437	96055437	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.403000	0.34612	0.383000	0.24910	0.557000	0.71058	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_207328			58	57		229	226	1		1	0		0	0	49	0		1	1.882375e-01	0	1	0	3	0	58	229
ADRA2B	151	broad.mit.edu	37	2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	82					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)			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)	CACCACGTGCGCCGGAAGTAC	0.657																																						ENST00000409345.3			0	0																														0				16						c.(244-246)Cgc>Tgc		adrenoceptor alpha 2B	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)						46.0	50.0	49.0					2																	96781645		2202	4300	6502	SO:0001583	missense	151	0	0					g.chr2:96781645G>A	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.244C>T	chr2.hg19:g.96781645G>A	ENSP00000387281:p.Arg82Cys							p.R82C	NM_000682.5	NP_000673					P18089	ADA2B_HUMAN		1	339	-			Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	1	1	hg19	c.244C>T	CCDS56129.1		.	.	.	.	.	.	.	.	.	.	g	15.63	2.889619	0.52014	.	.	ENSG00000222040	ENST00000409345	T	0.73469	-0.75	4.48	3.61	0.41365	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84835	0.5560	M	0.92691	3.335	0.32577	N	0.52904	D	0.67145	0.996	P	0.58970	0.849	D	0.86428	0.1759	9	0.72032	D	0.01	.	5.7559	0.18172	0.0986:0.0:0.7108:0.1905	.	82	P18089	ADA2B_HUMAN	C	82	ENSP00000387281:R82C	ENSP00000387281:R82C	R	-	1	0	0	ADRA2B	96145372	96145372	0.001000	0.12720	0.991000	0.47740	0.742000	0.42306	1.279000	0.33191	1.133000	0.42147	-0.365000	0.07479	CGC			TCGA-IB-7651-01A-11D-2154-08	0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				42	42		124	122	1		1	0		0	0	32	0		1	6.663849e-02	0	0	0	2	0	42	124
ADRA2B	151	broad.mit.edu	37	2	96781656	96781656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781656C>T	ENST00000409345.3	-	1	328	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	78					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)			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)	CCGGAAGTACCAGTAGCCCAG	0.652																																						ENST00000409345.3			0	0																														0				16						c.(232-234)tGg>tAg		adrenoceptor alpha 2B	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)						47.0	52.0	50.0					2																	96781656		2202	4300	6502	SO:0001587	stop_gained	151	0	0					g.chr2:96781656C>T	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.233G>A	chr2.hg19:g.96781656C>T	ENSP00000387281:p.Trp78*							p.W78*	NM_000682.5	NP_000673					P18089	ADA2B_HUMAN		1	328	-			Q4TUH9|Q53RF2|Q9BZK0	Nonsense_Mutation	SNP	ENST00000409345.3	0	1	hg19	c.233G>A	CCDS56129.1		.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000222040	ENST00000409345	.	.	.	4.48	4.48	0.54585	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000387281:W78X	W	-	2	0	0	ADRA2B	96145383	96145383	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.337000	0.79520	0.456000	0.33151	TGG			TCGA-IB-7651-01A-11D-2154-08	0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	0		2	2	2	0		0	0	31		31	30	1	2.060000	-7.342055	1	0.170000				5	5		167	165	0		1	0		0	0	31	0		9.365407e-01	1.379310e-03	0	0	0	2	0	5	167
ADRA2B	151	broad.mit.edu	37	2	96781849	96781849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781849C>T	ENST00000409345.3	-	1	135	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	14					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)			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)	GCCGCTATGGCCGCTGTGGCC	0.672																																						ENST00000409345.3			0	0																														0				16						c.(40-42)Gcc>Acc		adrenoceptor alpha 2B	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)						17.0	23.0	21.0					2																	96781849		2096	4209	6305	SO:0001583	missense	151	0	0					g.chr2:96781849C>T	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.40G>A	chr2.hg19:g.96781849C>T	ENSP00000387281:p.Ala14Thr							p.A14T	NM_000682.5	NP_000673					P18089	ADA2B_HUMAN		1	135	-			Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	0	1	hg19	c.40G>A	CCDS56129.1		.	.	.	.	.	.	.	.	.	.	C	14.98	2.696581	0.48202	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.28	4.28	0.50868	4.28	4.28	0.50868	.	.	.	.	.	T	0.41534	0.1163	L	0.48986	1.54	0.48762	D	0.999704	P	0.52842	0.956	P	0.50825	0.651	T	0.14896	-1.0456	9	0.25751	T	0.34	.	14.3119	0.66422	0.0:1.0:0.0:0.0	.	14	P18089	ADA2B_HUMAN	T	14	ENSP00000387281:A14T	ENSP00000387281:A14T	A	-	1	0	0	ADRA2B	96145576	96145576	0.939000	0.31865	0.966000	0.40874	0.374000	0.29953	2.044000	0.41241	2.213000	0.71641	0.456000	0.33151	GCC			TCGA-IB-7651-01A-11D-2154-08	0.672	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-7.245548	1	0.170000				4	4		101	100	0		1	0		0	0	16	0		8.895200e-01	2.596054e-03	0	0	0	2	0	4	101
ASTL	431705	broad.mit.edu	37	2	96789973	96789973	+	Silent	SNP	C	C	T	rs183967306	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96789973C>T	ENST00000342380.2	-	9	911	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATAGGGAGGCCGGAGCGGGGC	0.632													C|||	12	0.00239617	0.0	0.0058	5008	,	,		17350	0.0		0.008	False		,,,				2504	0.0					ENST00000342380.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(910-912)ccG>ccA		astacin-like metallo-endopeptidase (M12 family)		C		3,4333		0,3,2165	11.0	14.0	13.0		912	-8.6	0.0	2		13	55,8407		0,55,4176	no	coding-synonymous	ASTL	NM_001002036.3		0,58,6341	TT,TC,CC		0.65,0.0692,0.4532		304/432	96789973	58,12740	2168	4231	6399	SO:0001819	synonymous_variant	431705	585	116184	55				g.chr2:96789973C>T	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.912G>A	chr2.hg19:g.96789973C>T		1						p.P304P	NM_001002036.3	NP_001002036.3	1	2	3	2.195803				9	911	-				Silent	SNP	ENST00000342380.2	1	0	hg19	c.912G>A	CCDS33249.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-2.509481	1	0.170000				36	35		162	160	1		1			0	0	36	0		1	0	0	0	0	0	0	36	162
SNRNP200	23020	broad.mit.edu	37	2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1816	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)			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						GCGATCATGCCTAGGTTCAGA	0.582																																						ENST00000323853.5	1.000000	0.820000	1	9.600000e-01	0.990000	0.982219	0.990000	1.000000																										0				90						c.(5446-5448)Ggc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							109.0	99.0	102.0					2																	96944327		2203	4300	6503	SO:0001583	missense	23020	0	0					g.chr2:96944327C>A	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.5446G>T	chr2.hg19:g.96944327C>A	ENSP00000317123:p.Gly1816Cys	1					SNRNP200_ENST00000349783.5_Intron	p.G1816C	NM_014014.4	NP_054733.2	1	2	3	2.195803	O75643	U520_HUMAN		38	5523	-			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	1	1	hg19	c.5446G>T	CCDS2020.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079152	0.76528	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.84589	-1.87	5.62	5.62	0.85841	5.62	5.62	0.85841	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.88704	2.975	0.80722	D	1	P	0.45768	0.866	P	0.54924	0.764	D	0.92921	0.6355	10	0.62326	D	0.03	-16.916	18.7951	0.91991	0.0:1.0:0.0:0.0	.	1816	O75643	U520_HUMAN	C	1816;275;399	ENSP00000317123:G1816C	ENSP00000317123:G1816C	G	-	1	0	0	SNRNP200	96308054	96308054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.804000	0.96469	0.655000	0.94253	GGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-12.984940	1	0.170000	NM_014014			44	44		460	454	1		1	1		0	0	83	0		1	1	0	72	0	403	0	44	460
SNRNP200	23020	broad.mit.edu	37	2	96953626	96953626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96953626G>T	ENST00000323853.5	-	25	3417	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1114	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			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						ATCTTGCAGAGGTTCAGGGTC	0.537																																						ENST00000323853.5	0.440000	0.130000	3.600000e-01	1.900000e-01	0.260000	0.280394	0.260000	0.270000																										0				90						c.(3340-3342)Ctc>Atc		small nuclear ribonucleoprotein 200kDa (U5)							180.0	157.0	165.0					2																	96953626		2203	4300	6503	SO:0001583	missense	23020	0	0					g.chr2:96953626G>T	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.3340C>A	chr2.hg19:g.96953626G>T	ENSP00000317123:p.Leu1114Ile	1					SNRNP200_ENST00000349783.5_Intron	p.L1114I	NM_014014.4	NP_054733.2	1	2	3	2.195803	O75643	U520_HUMAN		25	3417	-			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	0	1	hg19	c.3340C>A	CCDS2020.1	0	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131324	0.77549	.	.	ENSG00000144028	ENST00000323853	T	0.71103	-0.54	5.3	5.3	0.74995	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.68728	2.09	0.80722	D	1	B	0.31485	0.325	P	0.44696	0.458	T	0.77877	-0.2424	10	0.54805	T	0.06	-17.238	17.8872	0.88861	0.0:0.0:1.0:0.0	.	1114	O75643	U520_HUMAN	I	1114	ENSP00000317123:L1114I	ENSP00000317123:L1114I	L	-	1	0	0	SNRNP200	96317353	96317353	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.550000	0.98110	2.755000	0.94549	0.561000	0.74099	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	0	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-2.681922	1	0.170000	NM_014014			11	11		530	522	0		1	1		0	0	108	0		9.982187e-01	9.539326e-01	0	13	0	242	0	11	530
ITPRIPL1	150771	broad.mit.edu	37	2	96992435	96992435	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000439118.2	+	3	317	c.66T>C	c.(64-66)gtT>gtC	p.V22V	ITPRIPL1_ENST00000361124.4_Silent_p.V30V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	22						integral component of membrane (GO:0016021)|membrane (GO:0016020)				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						TGATGTATGTTGTTCACCACC	0.532																																						ENST00000439118.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(64-66)gtT>gtC		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							159.0	133.0	142.0					2																	96992435		2203	4300	6503	SO:0001819	synonymous_variant	150771	0	0					g.chr2:96992435T>C		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.66T>C	chr2.hg19:g.96992435T>C		1					ITPRIPL1_ENST00000536814.1_Silent_p.V14V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000361124.4_Silent_p.V30V	p.V22V	NM_001008949.2	NP_001008949.1	1	2	3	2.195803	Q6GPH6	IPIL1_HUMAN		3	317	+			F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	1	1	hg19	c.66T>C	CCDS46360.1	1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484444	0.12641	.	.	ENSG00000198885	ENST00000420728	.	.	.	4.89	-4.61	0.03380	4.89	-4.61	0.03380	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-6.2416	9.4413	0.38670	0.0:0.1531:0.6099:0.237	.	.	.	.	S	54	.	.	L	+	2	0	0	ITPRIPL1	96356162	96356162	0.000000	0.05858	0.896000	0.35187	0.999000	0.98932	-4.207000	0.00274	-1.018000	0.03363	0.533000	0.62120	TTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_178495			94	94		417	412	1		1	0		0	0	100	0		1	9.073242e-02	0	0	0	3	0	94	417
NCAPH	23397	broad.mit.edu	37	2	97007618	97007618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000240423.4	+	2	301	c.258C>T	c.(256-258)gcC>gcT	p.A86A	NCAPH_ENST00000455200.1_Silent_p.A75A|NCAPH_ENST00000427946.1_Intron	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	86					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572																																						ENST00000240423.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(256-258)gcC>gcT		non-SMC condensin I complex, subunit H							72.0	74.0	73.0					2																	97007618		2203	4300	6503	SO:0001819	synonymous_variant	23397	0	0					g.chr2:97007618C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.258C>T	chr2.hg19:g.97007618C>T		1					NCAPH_ENST00000455200.1_Silent_p.A75A|NCAPH_ENST00000427946.1_Intron	p.A86A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	1	2	3	2.195803	Q15003	CND2_HUMAN		2	301	+		Ovarian(717;0.0221)	B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	1	1	hg19	c.258C>T	CCDS2021.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_015341			97	97		497	483	1		1	1		0	0	71	0		1	6.527672e-01	0	4	0	9	0	97	497
NCAPH	23397	broad.mit.edu	37	2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000240423.4	+	6	687	c.644A>C	c.(643-645)aAg>aCg	p.K215T	NCAPH_ENST00000455200.1_Missense_Mutation_p.K204T|NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	215					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438																																						ENST00000240423.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(643-645)aAg>aCg		non-SMC condensin I complex, subunit H							115.0	103.0	107.0					2																	97009891		2203	4300	6503	SO:0001583	missense	23397	0	0					g.chr2:97009891A>C	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.644A>C	chr2.hg19:g.97009891A>C	ENSP00000240423:p.Lys215Thr	1					NCAPH_ENST00000455200.1_Missense_Mutation_p.K204T|NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T	p.K215T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	1	2	3	2.195803	Q15003	CND2_HUMAN		6	687	+		Ovarian(717;0.0221)	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	1	1	hg19	c.644A>C	CCDS2021.1	1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304597	0.60305	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.43	4.29	0.51040	5.43	4.29	0.51040	.	0.151158	0.64402	D	0.000018	T	0.71151	0.3306	M	0.75264	2.295	0.44547	D	0.997506	P;P;P;P	0.51653	0.89;0.89;0.947;0.89	P;P;P;P	0.56751	0.636;0.636;0.805;0.636	T	0.70263	-0.4920	10	0.41790	T	0.15	-18.9547	8.7826	0.34800	0.9065:0.0:0.0935:0.0	.	191;204;204;215	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	215;79;204;204	ENSP00000240423:K215T;ENSP00000400774:K79T;ENSP00000405237:K204T;ENSP00000407308:K204T	ENSP00000240423:K215T	K	+	2	0	0	NCAPH	96373618	96373618	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.687000	0.54692	1.034000	0.39945	0.524000	0.50904	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_015341			62	62		254	251	1		1	1		0	0	53	0		1	9.833960e-01	0	9	0	20	0	62	254
NCAPH	23397	broad.mit.edu	37	2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T	rs372669126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000240423.4	+	12	1515	c.1472C>T	c.(1471-1473)aCt>aTt	p.T491I	NCAPH_ENST00000455200.1_Missense_Mutation_p.T480I|NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	491					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403																																						ENST00000240423.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1471-1473)aCt>aTt		non-SMC condensin I complex, subunit H							120.0	122.0	122.0					2																	97026333		2203	4300	6503	SO:0001583	missense	23397	0	0					g.chr2:97026333C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1472C>T	chr2.hg19:g.97026333C>T	ENSP00000240423:p.Thr491Ile	1					NCAPH_ENST00000455200.1_Missense_Mutation_p.T480I|NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I	p.T491I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	1	2	3	2.195803	Q15003	CND2_HUMAN		12	1515	+		Ovarian(717;0.0221)	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	1	1	hg19	c.1472C>T	CCDS2021.1	1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434742	0.62955	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.3	4.42	0.53409	5.3	4.42	0.53409	.	0.046684	0.85682	N	0.000000	T	0.59622	0.2207	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.987;0.989;0.973	T	0.57476	-0.7805	10	0.23891	T	0.37	-12.9561	12.2103	0.54375	0.0:0.9161:0.0:0.0839	.	467;480;491	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	I	491;355;480;480	ENSP00000240423:T491I;ENSP00000400774:T355I;ENSP00000405237:T480I;ENSP00000407308:T480I	ENSP00000240423:T491I	T	+	2	0	0	NCAPH	96390060	96390060	1.000000	0.71417	0.926000	0.36857	0.896000	0.52359	3.934000	0.56553	1.373000	0.46208	-0.150000	0.13652	ACT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	0	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000	NM_015341			195	192		597	588	1		1	1		0	0	155	0		1	9.726143e-01	0	11	0	9	0	195	597
CNNM4	26504	broad.mit.edu	37	2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	343	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498																																						ENST00000377075.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1027-1029)gaG>gaT		cyclin and CBS domain divalent metal cation transport mediator 4							95.0	91.0	93.0					2																	97427765		2203	4300	6503	SO:0001583	missense	26504	0	0					g.chr2:97427765G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1029G>T	chr2.hg19:g.97427765G>T	ENSP00000366275:p.Glu343Asp	1						p.E343D	NM_020184.3	NP_064569.3	1	2	3	2.195803	Q6P4Q7	CNNM4_HUMAN		1	1127	+			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	1	1	hg19	c.1029G>T	CCDS2024.2	1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206442	0.58343	.	.	ENSG00000158158	ENST00000377075	D	0.88741	-2.42	5.03	3.25	0.37280	5.03	3.25	0.37280	Domain of unknown function DUF21 (1);	0.183995	0.46758	D	0.000264	D	0.90954	0.7156	M	0.84511	2.7	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	D	0.88804	0.3287	10	0.59425	D	0.04	-18.7157	8.2718	0.31849	0.2505:0.0:0.7495:0.0	.	343	Q6P4Q7	CNNM4_HUMAN	D	343	ENSP00000366275:E343D	ENSP00000366275:E343D	E	+	3	2	2	CNNM4	96791492	96791492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.509000	0.53386	0.538000	0.28769	-0.749000	0.03505	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	1		2	2	2	0		0	0	89		89	90	1	2.060000	-20.000000	1	0.170000	NM_020184			98	98		320	314	1		1	1		0	0	89	0		1	1	0	58	0	53	0	98	320
CNNM4	26504	broad.mit.edu	37	2	97427930	97427930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502																																						ENST00000377075.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S398S(1)	lung(1)	20						c.(1192-1194)tcG>tcA		cyclin and CBS domain divalent metal cation transport mediator 4							114.0	103.0	107.0					2																	97427930		2203	4300	6503	SO:0001819	synonymous_variant	26504	0	0					g.chr2:97427930G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>A	chr2.hg19:g.97427930G>A		1						p.S398S	NM_020184.3	NP_064569.3	1	2	3	2.195803	Q6P4Q7	CNNM4_HUMAN		1	1292	+			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	1	1	hg19	c.1194G>A	CCDS2024.2	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-2.610402	1	0.170000	NM_020184			86	84		399	386	1		1	1		0	0	94	0		1	1	0	34	0	87	0	86	399
CNNM4	26504	broad.mit.edu	37	2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	414	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507																																						ENST00000377075.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1240-1242)gAg>gCg		cyclin and CBS domain divalent metal cation transport mediator 4							140.0	134.0	136.0					2																	97427977		2203	4300	6503	SO:0001583	missense	26504	0	0					g.chr2:97427977A>C	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1241A>C	chr2.hg19:g.97427977A>C	ENSP00000366275:p.Glu414Ala	1						p.E414A	NM_020184.3	NP_064569.3	1	2	3	2.195803	Q6P4Q7	CNNM4_HUMAN		1	1339	+			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	1	1	hg19	c.1241A>C	CCDS2024.2	1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193286	0.58017	.	.	ENSG00000158158	ENST00000377075	T	0.77489	-1.1	5.05	5.05	0.67936	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.118012	0.56097	D	0.000032	D	0.87724	0.6249	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.89117	0.3500	10	0.62326	D	0.03	-6.8455	13.8067	0.63236	1.0:0.0:0.0:0.0	.	414	Q6P4Q7	CNNM4_HUMAN	A	414	ENSP00000366275:E414A	ENSP00000366275:E414A	E	+	2	0	0	CNNM4	96791704	96791704	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	9.281000	0.95811	1.909000	0.55274	0.533000	0.62120	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	0		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_020184			155	153		535	523	1		1	1		0	0	142	0		1	9.999996e-01	0	29	0	45	0	155	535
CNNM3	26505	broad.mit.edu	37	2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	529					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552																																						ENST00000305510.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1585-1587)Agt>Ggt		cyclin and CBS domain divalent metal cation transport mediator 3							116.0	105.0	109.0					2																	97493533		2203	4300	6503	SO:0001583	missense	26505	0	0					g.chr2:97493533A>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1585A>G	chr2.hg19:g.97493533A>G	ENSP00000305449:p.Ser529Gly	1					ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G	p.S529G	NM_017623.4	NP_060093.3	1	2	3	2.195803	Q8NE01	CNNM3_HUMAN		4	1613	+			B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	1	1	hg19	c.1585A>G	CCDS2025.1	1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717725	0.48622	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90844	-2.47;-2.74	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.049764	0.85682	D	0.000000	D	0.82912	0.5140	N	0.25890	0.77	0.80722	D	1	B;B	0.22346	0.068;0.005	B;B	0.22386	0.039;0.01	T	0.77117	-0.2706	10	0.19590	T	0.45	-3.8148	9.8058	0.40792	0.9227:0.0:0.0773:0.0	.	481;529	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	G	481;481;529	ENSP00000366260:S481G;ENSP00000305449:S529G	ENSP00000305449:S529G	S	+	1	0	0	CNNM3	96857260	96857260	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.403000	0.66338	2.271000	0.75665	0.533000	0.62120	AGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_017623			56	54		364	360	1		1	1		0	0	63	0		1	9.999987e-01	0	40	0	90	0	56	364
ANKRD23	200539	broad.mit.edu	37	2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	139					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597																																						ENST00000318357.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(415-417)Gcc>Acc		ankyrin repeat domain 23							137.0	125.0	129.0					2																	97506535		2203	4300	6503	SO:0001583	missense	200539	0	0					g.chr2:97506535C>T		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.415G>A	chr2.hg19:g.97506535C>T	ENSP00000321679:p.Ala139Thr	1					ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_Intron	p.A139T	NM_144994.7	NP_659431.5	1	2	3	2.195803	Q86SG2	ANR23_HUMAN		4	456	-			Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	1	1	hg19	c.415G>A	CCDS2027.1	1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078512	0.36662	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.66995	-0.24;-0.24	5.03	4.16	0.48862	5.03	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.39274	N	0.001404	T	0.65375	0.2685	L	0.55743	1.74	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.60875	-0.7176	10	0.17832	T	0.49	-14.3014	9.5251	0.39160	0.0:0.9046:0.0:0.0954	.	139	Q86SG2	ANR23_HUMAN	T	139	ENSP00000321679:A139T;ENSP00000398987:A139T	ENSP00000321679:A139T	A	-	1	0	0	ANKRD23	96870262	96870262	0.302000	0.24454	0.965000	0.40720	0.881000	0.50899	0.725000	0.25970	1.361000	0.45981	-0.224000	0.12420	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_144994			162	156		502	491	1		1	1		0	0	133	0		1	5.400624e-01	0	3	0	4	0	162	502
SEMA4C	54910	broad.mit.edu	37	2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	609	Ig-like C2-type.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGCCTGGAGCCGGGCATCG	0.692																																						ENST00000305476.5	1.000000	0.410000	8.500000e-01	5.300000e-01	0.670000	0.692419	0.670000	1.000000																										0				17						c.(1825-1827)Ctc>Atc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							17.0	22.0	21.0					2																	97527040		2199	4290	6489	SO:0001583	missense	54910	0	0					g.chr2:97527040G>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1825C>A	chr2.hg19:g.97527040G>T	ENSP00000306844:p.Leu609Ile	1						p.L609I	NM_017789.4	NP_060259.4	1	2	3	2.195803	Q9C0C4	SEM4C_HUMAN		15	1957	-			Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	1	1	hg19	c.1825C>A	CCDS2029.1	0	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498736	0.44455	.	.	ENSG00000168758	ENST00000305476	T	0.04758	3.56	4.69	4.69	0.59074	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150600	0.45606	D	0.000351	T	0.15998	0.0385	L	0.51422	1.61	0.58432	D	0.999996	B;P;D	0.69078	0.382;0.638;0.997	B;B;D	0.72625	0.133;0.212;0.978	T	0.01118	-1.1446	10	0.37606	T	0.19	.	16.5234	0.84322	0.0:0.0:1.0:0.0	.	609;319;150	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	I	609	ENSP00000306844:L609I	ENSP00000306844:L609I	L	-	1	0	0	SEMA4C	96890767	96890767	0.998000	0.40836	0.961000	0.40146	0.964000	0.63967	3.308000	0.51896	2.417000	0.82017	0.561000	0.74099	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.256350	1	0.170000	NM_017789			17	17		308	301	0		1	1		0	0	27	0		9.999619e-01	9.636594e-01	0	4	0	98	0	17	308
SEMA4C	54910	broad.mit.edu	37	2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	410	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617																																						ENST00000305476.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R410C(1)	prostate(1)	17						c.(1228-1230)Cgc>Tgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							38.0	42.0	40.0					2																	97529765		2203	4300	6503	SO:0001583	missense	54910	0	0					g.chr2:97529765G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1228C>T	chr2.hg19:g.97529765G>A	ENSP00000306844:p.Arg410Cys	1						p.R410C	NM_017789.4	NP_060259.4	1	2	3	2.195803	Q9C0C4	SEM4C_HUMAN		11	1360	-			Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	1	1	hg19	c.1228C>T	CCDS2029.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528016	0.85706	.	.	ENSG00000168758	ENST00000305476	T	0.34072	1.38	5.65	5.65	0.86999	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.106709	0.64402	D	0.000004	T	0.67515	0.2901	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.63283	0.913;0.913	T	0.75328	-0.3356	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	410;120	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	410	ENSP00000306844:R410C	ENSP00000306844:R410C	R	-	1	0	0	SEMA4C	96893492	96893492	0.599000	0.26891	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	2.667000	0.90743	0.561000	0.74099	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_017789			37	37		182	180	1		1	1		0	0	33	0		1	9.999927e-01	0	16	0	77	0	37	182
ZAP70	7535	broad.mit.edu	37	2	98340826	98340826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	ENST00000264972.5	+	3	542	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	109	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGG	0.711																																						ENST00000264972.5	1.000000	0.890000	1	9.900000e-01	0.990000	0.993556	0.990000	1.000000																										0				29						c.(325-327)gaG>gaA		zeta-chain (TCR) associated protein kinase 70kDa							5.0	6.0	6.0					2																	98340826		1890	3801	5691	SO:0001819	synonymous_variant	7535	0	0					g.chr2:98340826G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.327G>A	chr2.hg19:g.98340826G>A		1					ZAP70_ENST00000442208.1_5'Flank	p.E109E	NM_001079.3	NP_001070.2	1	2	3	2.195803	P43403	ZAP70_HUMAN		3	542	+			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	0	1	hg19	c.327G>A	CCDS33254.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0		2	2	2	0		0	0	10		10	8	1	2.060000	-16.126390	1	0.170000				8	8		48	44	0		1			0	0	10	0		9.880143e-01	0	0	0	0	0	0	8	48
ZAP70	7535	broad.mit.edu	37	2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	129	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701																																						ENST00000264972.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999377	0.990000	1.000000																										0				29						c.(385-387)caG>caT		zeta-chain (TCR) associated protein kinase 70kDa							5.0	6.0	5.0					2																	98340886		1968	3950	5918	SO:0001583	missense	7535	0	0					g.chr2:98340886G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.387G>T	chr2.hg19:g.98340886G>T	ENSP00000264972:p.Gln129His	1					ZAP70_ENST00000442208.1_5'Flank	p.Q129H	NM_001079.3	NP_001070.2	1	2	3	2.195803	P43403	ZAP70_HUMAN		3	602	+			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	0	1	hg19	c.387G>T	CCDS33254.1	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730690	0.48939	.	.	ENSG00000115085	ENST00000264972	T	0.25912	1.77	4.9	4.9	0.64082	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.47852	D	0.000211	T	0.25344	0.0616	L	0.45137	1.4	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.03673	-1.1014	10	0.54805	T	0.06	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	129;129	B4E0E2;P43403	.;ZAP70_HUMAN	H	129	ENSP00000264972:Q129H	ENSP00000264972:Q129H	Q	+	3	2	2	ZAP70	97707318	97707318	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	1.599000	0.36751	2.449000	0.82847	0.467000	0.42956	CAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-19.381470	1	0.170000				10	10		44	44	0		1	0		0	0	8	0		9.977981e-01	2.589481e-01	0	0	0	5	0	10	44
ZAP70	7535	broad.mit.edu	37	2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	283	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612																																						ENST00000264972.5	1.000000	0.720000	1	8.500000e-01	0.990000	0.946724	0.990000	1.000000																										0				29						c.(847-849)Cga>Tga		zeta-chain (TCR) associated protein kinase 70kDa							68.0	58.0	61.0					2																	98350016		2203	4300	6503	SO:0001587	stop_gained	7535	1	121412	30				g.chr2:98350016C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.847C>T	chr2.hg19:g.98350016C>T	ENSP00000264972:p.Arg283*	1					ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*	p.R283*	NM_001079.3	NP_001070.2	1	2	3	2.195803	P43403	ZAP70_HUMAN		8	1062	+			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Nonsense_Mutation	SNP	ENST00000264972.5	0	1	hg19	c.847C>T	CCDS33254.1	1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677893	0.68042	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	.	.	.	4.43	2.47	0.30058	4.43	2.47	0.30058	.	0.517370	0.15567	N	0.255631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2272	0.15401	0.2:0.6941:0.0:0.1058	.	.	.	.	X	283;157	.	ENSP00000264972:R283X	R	+	1	2	2	ZAP70	97716448	97716448	0.836000	0.29430	0.973000	0.42090	0.794000	0.44872	0.509000	0.22707	1.202000	0.43218	0.563000	0.77884	CGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.318794	1	0.170000				39	39		458	454	0		1	0		0	0	73	0		1	3.698985e-01	0	0	0	16	0	39	458
ZAP70	7535	broad.mit.edu	37	2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652																																						ENST00000264972.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1159-1161)Gcg>Acg		zeta-chain (TCR) associated protein kinase 70kDa							158.0	130.0	140.0					2																	98351789		2203	4300	6503	SO:0001583	missense	7535	0	0					g.chr2:98351789G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1159G>A	chr2.hg19:g.98351789G>A	ENSP00000264972:p.Ala387Thr	1					ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T	p.A387T	NM_001079.3	NP_001070.2	1	2	3	2.195803	P43403	ZAP70_HUMAN		10	1374	+			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	1	1	hg19	c.1159G>A	CCDS33254.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541711	0.85917	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	5.65	0.86999	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	T	0.74512	0.3726	M	0.70787	2.145	0.80722	D	1	D;D	0.63046	0.992;0.965	P;P	0.55545	0.741;0.778	T	0.77035	-0.2737	10	0.87932	D	0	.	17.5952	0.88010	0.0:0.0:1.0:0.0	.	261;387	P43403-3;P43403	.;ZAP70_HUMAN	T	387;261;80	ENSP00000264972:A387T;ENSP00000411141:A261T;ENSP00000400475:A80T	ENSP00000264972:A387T	A	+	1	0	0	ZAP70	97718221	97718221	1.000000	0.71417	0.989000	0.46669	0.199000	0.23934	9.823000	0.99369	2.844000	0.97970	0.643000	0.83706	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	1		2	2	2	0		0	0	132		132	128	1	2.060000	-20.000000	1	0.170000				233	230		610	605	1		1	0		0	0	132	0		1	8.090533e-01	0	0	0	10	0	233	610
ZAP70	7535	broad.mit.edu	37	2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A	rs550812644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.001					ENST00000264972.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1525-1527)Gaa>Aaa		zeta-chain (TCR) associated protein kinase 70kDa							118.0	126.0	123.0					2																	98354262		2203	4300	6503	SO:0001583	missense	7535	1	121412	36				g.chr2:98354262G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1525G>A	chr2.hg19:g.98354262G>A	ENSP00000264972:p.Glu509Lys	1					ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K	p.E509K	NM_001079.3	NP_001070.2	1	2	3	2.195803	P43403	ZAP70_HUMAN		12	1740	+			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	1	1	hg19	c.1525G>A	CCDS33254.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.512702	0.96402	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.84370	-1.84;-1.84;-1.84	5.2	5.2	0.72013	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	D	0.96081	0.8723	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97885	1.0294	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	383;509	P43403-3;P43403	.;ZAP70_HUMAN	K	509;383;202	ENSP00000264972:E509K;ENSP00000411141:E383K;ENSP00000400475:E202K	ENSP00000264972:E509K	E	+	1	0	0	ZAP70	97720694	97720694	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.956000	0.87863	2.610000	0.88304	0.655000	0.94253	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	1		2	2	2	0		0	0	166		166	164	1	2.060000	-20.000000	1	0.170000				194	192		958	939	1		1	0		0	0	166	0		1	6.695237e-01	0	0	0	13	0	194	958
TMEM131	23505	broad.mit.edu	37	2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1816						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592																																						ENST00000186436.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(5446-5448)gCc>gTc		transmembrane protein 131							141.0	144.0	143.0					2																	98373767		2148	4256	6404	SO:0001583	missense	23505	0	0					g.chr2:98373767G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5447C>T	chr2.hg19:g.98373767G>A	ENSP00000186436:p.Ala1816Val	1						p.A1816V	NM_015348.1	NP_056163.1	1	2	3	2.195803	Q92545	TM131_HUMAN		41	5675	-				Missense_Mutation	SNP	ENST00000186436.5	1	1	hg19	c.5447C>T	CCDS46368.1	1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044813	0.36085	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.47	4.56	0.56223	5.47	4.56	0.56223	.	0.550760	0.21063	N	0.080790	T	0.23532	0.0569	N	0.14661	0.345	0.41406	D	0.987701	B;B	0.22414	0.005;0.069	B;B	0.24701	0.01;0.055	T	0.07233	-1.0783	10	0.56958	D	0.05	-0.0624	10.5944	0.45329	0.0:0.2379:0.6324:0.1297	.	1816;196	Q92545;Q0P631	TM131_HUMAN;.	V	1816	ENSP00000186436:A1816V	ENSP00000186436:A1816V	A	-	2	0	0	TMEM131	97740199	97740199	0.994000	0.37717	0.253000	0.24343	0.984000	0.73092	2.242000	0.43106	1.487000	0.48415	0.637000	0.83480	GCC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	XM_371542			68	68		286	279	1		1	1		0	0	72	0		1	1	0	40	0	179	0	68	286
TMEM131	23505	broad.mit.edu	37	2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1806	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602																																						ENST00000186436.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(5416-5418)agC>agA		transmembrane protein 131							145.0	148.0	147.0					2																	98373796		2146	4246	6392	SO:0001583	missense	23505	0	0					g.chr2:98373796G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5418C>A	chr2.hg19:g.98373796G>T	ENSP00000186436:p.Ser1806Arg	1						p.S1806R	NM_015348.1	NP_056163.1	1	2	3	2.195803	Q92545	TM131_HUMAN		41	5646	-				Missense_Mutation	SNP	ENST00000186436.5	1	1	hg19	c.5418C>A	CCDS46368.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304642	0.60305	.	.	ENSG00000075568	ENST00000186436	T	0.38077	1.16	5.48	2.51	0.30379	5.48	2.51	0.30379	.	0.294098	0.46758	D	0.000266	T	0.24624	0.0597	L	0.32530	0.975	0.80722	D	1	B;P	0.41188	0.058;0.741	B;B	0.39258	0.03;0.295	T	0.02676	-1.1125	10	0.46703	T	0.11	-1.3683	7.3311	0.26584	0.4024:0.0:0.5976:0.0	.	1806;186	Q92545;Q0P631	TM131_HUMAN;.	R	1806	ENSP00000186436:S1806R	ENSP00000186436:S1806R	S	-	3	2	2	TMEM131	97740228	97740228	0.956000	0.32656	0.852000	0.33557	0.931000	0.56810	1.564000	0.36375	0.874000	0.35823	0.643000	0.83706	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	XM_371542			91	88		298	292	1		1	1		0	0	79	0		1	1	0	58	0	135	0	91	298
TMEM131	23505	broad.mit.edu	37	2	98422056	98422056	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	722						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323																																						ENST00000186436.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2164-2166)ttA>ttG		transmembrane protein 131							192.0	202.0	199.0					2																	98422056		1817	4076	5893	SO:0001819	synonymous_variant	23505	0	0					g.chr2:98422056T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2166A>G	chr2.hg19:g.98422056T>C		1						p.L722L	NM_015348.1	NP_056163.1	1	2	3	2.195803	Q92545	TM131_HUMAN		20	2394	-				Silent	SNP	ENST00000186436.5	1	1	hg19	c.2166A>G	CCDS46368.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1		2	2	2	0		0	0	236		236	236	1	2.060000	-20.000000	1	0.170000	XM_371542			269	267		921	899	0		1	1		0	0	236	0		1	1	0	20	0	69	0	269	921
TMEM131	23505	broad.mit.edu	37	2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T	rs369284204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACTCCAAAATCTATGAAACGT	0.299																																						ENST00000186436.5	0.950000	0.310000	7.700000e-01	4.300000e-01	0.580000	0.605233	0.580000	0.570000																										0				57						c.(1657-1659)Gat>Aat		transmembrane protein 131		C	ASN/ASP	0,3612		0,0,1806	55.0	56.0	55.0		1657	5.6	1.0	2		55	1,8121		0,1,4060	no	missense	TMEM131	NM_015348.1	23	0,1,5866	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	553/1884	98429173	1,11733	1806	4061	5867	SO:0001583	missense	23505	1	120758	29				g.chr2:98429173C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1657G>A	chr2.hg19:g.98429173C>T	ENSP00000186436:p.Asp553Asn	1						p.D553N	NM_015348.1	NP_056163.1	1	2	3	2.195803	Q92545	TM131_HUMAN		16	1885	-				Missense_Mutation	SNP	ENST00000186436.5	1	1	hg19	c.1657G>A	CCDS46368.1	0	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385078	0.82792	0.0	1.23E-4	ENSG00000075568	ENST00000186436	T	0.41400	1.0	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52653	-0.8547	10	0.44086	T	0.13	-19.9906	18.0982	0.89497	0.0:1.0:0.0:0.0	.	553	Q92545	TM131_HUMAN	N	553	ENSP00000186436:D553N	ENSP00000186436:D553N	D	-	1	0	0	TMEM131	97795605	97795605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-4.457248	1	0.170000	XM_371542			11	11		236	233	0		1	1		0	0	52	0		9.983310e-01	7.707681e-01	0	3	0	59	0	11	236
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral component of membrane (GO:0016021)		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408																																						ENST00000186436.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A352V(1)	large_intestine(1)	57						c.(1393-1395)gCg>gTg		transmembrane protein 131							105.0	100.0	102.0					2																	98430750		1893	4128	6021	SO:0001583	missense	23505	0	0					g.chr2:98430750G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1394C>T	chr2.hg19:g.98430750G>A	ENSP00000186436:p.Ala465Val	1						p.A465V	NM_015348.1	NP_056163.1	1	2	3	2.195803	Q92545	TM131_HUMAN		14	1622	-				Missense_Mutation	SNP	ENST00000186436.5	1	1	hg19	c.1394C>T	CCDS46368.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	0	TMEM131	97797182	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.210506	1	0.170000	XM_371542			58	58		272	265	1		1	1		0	0	55	0		1	9.998589e-01	0	13	0	51	0	58	272
VWA3B	200403	broad.mit.edu	37	2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	47										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						GGGCTTAAGAGCAACAAATTG	0.448																																						ENST00000477737.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994397	0.990000	1.000000																										0				70						c.(139-141)aGc>aAc		von Willebrand factor A domain containing 3B							128.0	119.0	122.0					2																	98709695		1969	4160	6129	SO:0001583	missense	200403	0	0					g.chr2:98709695G>A	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.140G>A	chr2.hg19:g.98709695G>A	ENSP00000417955:p.Ser47Asn	1					VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	p.S47N	NM_144992.4	NP_659429.4	1	2	3	2.195803	Q502W6	VWA3B_HUMAN		2	344	+			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	1	1	hg19	c.140G>A	CCDS42718.1	1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469179	0.26423	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38887	1.11;1.11	5.52	1.49	0.22878	5.52	1.49	0.22878	.	0.364292	0.30446	N	0.009620	T	0.21103	0.0508	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16289	0.003;0.015	T	0.04347	-1.0958	10	0.25751	T	0.34	.	4.8174	0.13374	0.2586:0.3219:0.4195:0.0	.	47;47	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	47	ENSP00000401959:S47N;ENSP00000417955:S47N	ENSP00000411168:S47N	S	+	2	0	0	VWA3B	98076127	98076127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	0.419000	0.25927	0.650000	0.86243	AGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-16.653980	1	0.170000	NM_144992			58	59		569	552	0		1	1		0	0	120	0		1	2.764384e-01	0	4	0	7	0	58	569
VWA3B	200403	broad.mit.edu	37	2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	303										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						AGAGTGTGTAGAATTTCCTGC	0.458																																						ENST00000477737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(907-909)Gaa>Taa		von Willebrand factor A domain containing 3B							291.0	274.0	280.0					2																	98750321		2048	4205	6253	SO:0001587	stop_gained	200403	0	0					g.chr2:98750321G>T	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.907G>T	chr2.hg19:g.98750321G>T	ENSP00000417955:p.Glu303*	1					VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	p.E303*	NM_144992.4	NP_659429.4	1	2	3	2.195803	Q502W6	VWA3B_HUMAN		7	1111	+			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	0	1	hg19	c.907G>T	CCDS42718.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440653	0.83993	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.66	2.81	0.32909	5.66	2.81	0.32909	.	1.314060	0.04874	N	0.446518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.8642	0.29528	0.0754:0.0:0.6401:0.2844	.	.	.	.	X	303;303;153	.	ENSP00000411168:E303X	E	+	1	0	0	VWA3B	98116753	98116753	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.226000	0.32563	0.290000	0.22444	-0.169000	0.13324	GAA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	0		2	2	2	0		0	0	194		194	193	1	2.060000	-20.000000	1	0.170000	NM_144992			201	194		955	939	0		1	0		0	0	194	0		1	2.814481e-01	0	0	0	6	0	201	955
VWA3B	200403	broad.mit.edu	37	2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A	rs527274933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	305								p.P305S(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						TGTAGAATTTCCTGCATTCTC	0.458																																						ENST00000477737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P305S(1)	NS(1)	70						c.(913-915)Cct>Act		von Willebrand factor A domain containing 3B							290.0	274.0	279.0					2																	98750327		2042	4196	6238	SO:0001583	missense	200403	0	0					g.chr2:98750327C>A	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.913C>A	chr2.hg19:g.98750327C>A	ENSP00000417955:p.Pro305Thr	1					VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	p.P305T	NM_144992.4	NP_659429.4	1	2	3	2.195803	Q502W6	VWA3B_HUMAN		7	1117	+			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	1	1	hg19	c.913C>A	CCDS42718.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629337	0.28978	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.22336	1.96;3.4;2.49	5.66	2.84	0.33178	5.66	2.84	0.33178	.	0.306720	0.28219	N	0.016155	T	0.18718	0.0449	L	0.59436	1.845	0.09310	N	1	B;B;B	0.23442	0.04;0.085;0.066	B;B;B	0.19946	0.012;0.02;0.027	T	0.17592	-1.0364	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.7487:0.0:0.2513	.	155;305;305	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	305;305;155	ENSP00000401959:P305T;ENSP00000417955:P305T;ENSP00000389463:P155T	ENSP00000411168:P305T	P	+	1	0	0	VWA3B	98116759	98116759	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.480000	0.22244	0.730000	0.32425	-0.140000	0.14226	CCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	0		2	2	2	0		0	0	190		190	189	1	2.060000	-20.000000	1	0.170000	NM_144992			188	181		935	918	1		1	0		0	0	190	0		1	3.973919e-01	0	0	0	8	0	188	935
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A	rs370362777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(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						CTATGTTCCCGTCCTGGACAA	0.478																																						ENST00000477737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V879F(1)	lung(1)	70						c.(2635-2637)Gtc>Atc		von Willebrand factor A domain containing 3B		G	ILE/VAL	1,4057		0,1,2028	128.0	135.0	133.0		2635	-5.5	0.0	2		133	2,8398		0,2,4198	no	missense	VWA3B	NM_144992.4	29	0,3,6226	AA,AG,GG		0.0238,0.0246,0.0241	benign	879/1295	98853155	3,12455	2029	4200	6229	SO:0001583	missense	200403	13	120938	46				g.chr2:98853155G>A	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.2635G>A	chr2.hg19:g.98853155G>A	ENSP00000417955:p.Val879Ile	1						p.V879I	NM_144992.4	NP_659429.4	1	2	3	2.195803	Q502W6	VWA3B_HUMAN		19	2839	+			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	1	1	hg19	c.2635G>A	CCDS42718.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.788127|-1.788127	0.00628|0.00628	2.46E-4|2.46E-4	2.38E-4|2.38E-4	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.04603	.|3.59	4.93|4.93	-5.54|-5.54	0.02544|0.02544	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.01505|0.01505	-0.83|-0.83	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.15719	.|0.007;0.014;0.005;0.005	.|B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	H|I	289|879	.|ENSP00000417955:V879I	.|ENSP00000417955:V879I	R|V	+|+	2|1	0|0	0|0	VWA3B|VWA3B	98219587|98219587	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1		2	2	2	0		0	0	157		157	153	1	2.060000	-20.000000	1	0.170000	NM_144992			138	136		813	803	1		1	0		0	0	157	0		1	2.131482e-02	0	1	0	1	0	138	813
VWA3B	200403	broad.mit.edu	37	2	98928393	98928393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1211										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						AAAAGAGGCCCGCCAAGCAGC	0.642																																						ENST00000477737.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3631-3633)ccC>ccT		von Willebrand factor A domain containing 3B							10.0	16.0	14.0					2																	98928393		1852	4076	5928	SO:0001819	synonymous_variant	200403	1	120172	30				g.chr2:98928393C>T	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.3633C>T	chr2.hg19:g.98928393C>T		1					VWA3B_ENST00000490947.2_3'UTR	p.P1211P	NM_144992.4	NP_659429.4	1	2	3	2.195803	Q502W6	VWA3B_HUMAN		27	3837	+			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	1	1	hg19	c.3633C>T	CCDS42718.1	1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687052	0.03328	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-6.28	0.02020	3.89	-6.28	0.02020	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	13.2536	0.60066	0.0:0.1782:0.0:0.8218	.	.	.	.	C	622	.	.	R	+	1	0	0	VWA3B	98294825	98294825	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-1.161000	0.03144	-1.552000	0.01704	-0.339000	0.08088	CGC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-6.313370	1	0.170000	NM_144992			31	31		62	58	1		1			0	0	11	0		1	0	0	0	0	0	0	31	62
CNGA3	1261	broad.mit.edu	37	2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000272602.2	+	6	694	c.655C>A	c.(655-657)Ctt>Att	p.L219I	CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I|CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	219					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)			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						CTTGGATGTGCTTGTACGAGC	0.597																																						ENST00000272602.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(655-657)Ctt>Att		cyclic nucleotide gated channel alpha 3							176.0	129.0	145.0					2																	99008415		2203	4300	6503	SO:0001583	missense	1261	0	0					g.chr2:99008415C>A	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.655C>A	chr2.hg19:g.99008415C>A	ENSP00000272602:p.Leu219Ile	1					CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I	p.L219I			1	2	3	2.195803	Q16281	CNGA3_HUMAN		6	694	+			E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	1	1	hg19	c.655C>A	CCDS2034.1	1	.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433896	0.04669	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.28	3.46	0.39613	5.28	3.46	0.39613	Ion transport (1);	0.120714	0.56097	D	0.000022	D	0.93481	0.7920	N	0.13327	0.33	0.25395	N	0.988493	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17098	0.013;0.013;0.017	D	0.85723	0.1326	10	0.22706	T	0.39	.	9.4971	0.38995	0.0:0.772:0.0:0.228	.	223;201;219	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	219;201;219;223	ENSP00000377140:L219I;ENSP00000410070:L201I;ENSP00000272602:L219I;ENSP00000386761:L223I	ENSP00000272602:L219I	L	+	1	0	0	CNGA3	98374847	98374847	0.015000	0.18098	0.997000	0.53966	0.084000	0.17831	0.298000	0.19120	1.473000	0.48159	-0.137000	0.14449	CTT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-20.000000	1	0.170000	NM_001298			62	60		279	273	1		1	0		0	0	57	0		1	0	0	0	0	1	0	62	279
CNGA3	1261	broad.mit.edu	37	2	99012701	99012701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000272602.2	+	7	1107	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	CNGA3_ENST00000393504.1_Silent_p.L356L|CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000409937.1_Silent_p.L360L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	356					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)			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						TTTACAGTCTCTACTGGTCCA	0.512																																						ENST00000272602.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1066-1068)ctC>ctA		cyclic nucleotide gated channel alpha 3							83.0	83.0	83.0					2																	99012701		2203	4300	6503	SO:0001819	synonymous_variant	1261	0	0					g.chr2:99012701C>A	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.1068C>A	chr2.hg19:g.99012701C>A		1					CNGA3_ENST00000393504.1_Silent_p.L356L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000436404.2_Silent_p.L338L	p.L356L			1	2	3	2.195803	Q16281	CNGA3_HUMAN		7	1107	+			E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	1	1	hg19	c.1068C>A	CCDS2034.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.271346	1	0.170000	NM_001298			83	82		387	379	1		1			0	0	83	0		1	0	0	0	0	0	0	83	387
CNGA3	1261	broad.mit.edu	37	2	99013655	99013655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000272602.2	+	7	2061	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	CNGA3_ENST00000393504.1_Silent_p.D674D|CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000409937.1_Silent_p.D678D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	674					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)			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						GTGGTGGGGACAAGCCCCTGG	0.552																																						ENST00000272602.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2020-2022)gaC>gaT		cyclic nucleotide gated channel alpha 3							38.0	40.0	39.0					2																	99013655		2203	4300	6503	SO:0001819	synonymous_variant	1261	0	0					g.chr2:99013655C>T	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.2022C>T	chr2.hg19:g.99013655C>T		1					CNGA3_ENST00000393504.1_Silent_p.D674D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000436404.2_Silent_p.D656D	p.D674D			1	2	3	2.195803	Q16281	CNGA3_HUMAN		7	2061	+			E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	1	1	hg19	c.2022C>T	CCDS2034.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.970528	1	0.170000	NM_001298			67	66		197	197	1		1	0		0	0	61	0		1	0	0	0	0	1	0	67	197
INPP4A	3631	broad.mit.edu	37	2	99185040	99185040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000523221.1	+	21	2442	c.2442C>T	c.(2440-2442)ggC>ggT	p.G814G	INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000074304.5_Silent_p.G814G|INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409016.4_Silent_p.G775G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000409851.3_Silent_p.G809G			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	814					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)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGGTTTGGCGATACGTCTT	0.413																																						ENST00000523221.1	1.000000	0.880000	1	9.900000e-01	0.990000	0.992906	0.990000	1.000000																										0				43						c.(2440-2442)ggC>ggT		inositol polyphosphate-4-phosphatase, type I, 107kDa							103.0	98.0	100.0					2																	99185040		1918	4118	6036	SO:0001819	synonymous_variant	3631	0	0					g.chr2:99185040C>T	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.2442C>T	chr2.hg19:g.99185040C>T		1					INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409016.4_Silent_p.G775G|INPP4A_ENST00000074304.5_Silent_p.G814G	p.G814G			1	2	3	2.195803	Q96PE3	INP4A_HUMAN		21	2442	+			O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	0	1	hg19	c.2442C>T	CCDS46369.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-7.031560	1	0.170000	NM_001566			8	8		49	46	0		1	1		0	0	8	0		9.889172e-01	9.942852e-01	0	4	0	58	0	8	49
UNC50	25972	broad.mit.edu	37	2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000357765.2	+	2	312	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.L71F|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	54					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488																																						ENST00000357765.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(160-162)Ctc>Ttc		unc-50 homolog (C. elegans)							105.0	107.0	106.0					2																	99226382		2203	4300	6503	SO:0001583	missense	25972	0	0					g.chr2:99226382C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.160C>T	chr2.hg19:g.99226382C>T	ENSP00000350409:p.Leu54Phe	1					COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|UNC50_ENST00000409975.1_Missense_Mutation_p.L71F|COA5_ENST00000409997.1_5'Flank	p.L54F	NM_014044.5	NP_054763.2	1	2	3	2.195803	Q53HI1	UNC50_HUMAN		2	312	+			D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	1	1	hg19	c.160C>T	CCDS2035.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823659	0.50739	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.126220	0.56097	D	0.000040	T	0.45013	0.1321	N	0.20685	0.6	0.80722	D	1	B	0.25007	0.116	B	0.28638	0.092	T	0.32508	-0.9904	9	0.16420	T	0.52	-20.4457	18.0646	0.89387	0.0:1.0:0.0:0.0	.	54	Q53HI1	UNC50_HUMAN	F	54;71;71	.	ENSP00000350409:L54F	L	+	1	0	0	UNC50	98592814	98592814	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.511000	0.60462	2.505000	0.84491	0.591000	0.81541	CTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	0		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_014044			108	105		547	536	1		1	1		0	0	127	0		1	1	0	56	0	260	0	108	547
UNC50	25972	broad.mit.edu	37	2	99226447	99226447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000357765.2	+	2	377	c.225C>T	c.(223-225)gaC>gaT	p.D75D	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409975.1_Silent_p.D92D|UNC50_ENST00000409347.1_Silent_p.D92D|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	75					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448																																						ENST00000357765.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(223-225)gaC>gaT		unc-50 homolog (C. elegans)							54.0	58.0	57.0					2																	99226447		2203	4300	6503	SO:0001819	synonymous_variant	25972	0	0					g.chr2:99226447C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.225C>T	chr2.hg19:g.99226447C>T		1					COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Silent_p.D92D|UNC50_ENST00000409975.1_Silent_p.D92D|COA5_ENST00000409997.1_5'Flank	p.D75D	NM_014044.5	NP_054763.2	1	2	3	2.195803	Q53HI1	UNC50_HUMAN		2	377	+			D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Silent	SNP	ENST00000357765.2	1	1	hg19	c.225C>T	CCDS2035.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_014044			95	93		241	235	1		1	1		0	0	61	0		1	1	0	93	0	189	0	95	241
TSGA10	80705	broad.mit.edu	37	2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	451					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)				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						ATCTGTTACCCTCTGCCTCAG	0.373																																						ENST00000393483.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1351-1353)gaG>gaT		testis specific, 10							150.0	141.0	144.0					2																	99681453		2203	4300	6503	SO:0001583	missense	80705	0	0					g.chr2:99681453C>A	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.1353G>T	chr2.hg19:g.99681453C>A	ENSP00000377123:p.Glu451Asp	1					TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	p.E451D	NM_025244.2	NP_079520.1	1	2	3	2.195803	Q9BZW7	TSG10_HUMAN		16	2197	-			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	1	1	hg19	c.1353G>T	CCDS2037.1	1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391315	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.3	4.42	0.53409	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02244	-1.1189	10	0.34782	T	0.22	-13.7504	8.0984	0.30842	0.0:0.8223:0.0:0.1777	.	451	Q9BZW7	TSG10_HUMAN	D	451	ENSP00000377123:E451D;ENSP00000386956:E451D;ENSP00000347161:E451D;ENSP00000444419:E451D;ENSP00000386508:E451D;ENSP00000377122:E451D	ENSP00000347161:E451D	E	-	3	2	2	TSGA10	99047885	99047885	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.021000	0.41020	1.476000	0.48215	0.585000	0.79938	GAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-2.773657	1	0.170000	NM_182911			71	70		347	338	1		1	0		0	0	68	0		1	0	0	0	0	1	0	71	347
TSGA10	80705	broad.mit.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					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.T93M(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						AGCATGTGCCGTTGTTGATTT	0.413																																						ENST00000393483.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T93M(1)	prostate(1)	34						c.(277-279)aCg>aTg		testis specific, 10							238.0	229.0	232.0					2																	99722093		2203	4300	6503	SO:0001583	missense	80705	0	0					g.chr2:99722093G>A	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.278C>T	chr2.hg19:g.99722093G>A	ENSP00000377123:p.Thr93Met	1					TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M	p.T93M	NM_025244.2	NP_079520.1	1	2	3	2.195803	Q9BZW7	TSG10_HUMAN		8	1122	-			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	1	1	hg19	c.278C>T	CCDS2037.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	0	TSGA10	99088525	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	1	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-20.000000	1	0.170000	NM_182911			262	260		767	754	1		1	1		0	0	164	0		1	9.242184e-01	0	6	0	9	0	262	767
MITD1	129531	broad.mit.edu	37	2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	206	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289																																						ENST00000289359.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(616-618)aaG>aaT		MIT, microtubule interacting and transport, domain containing 1							67.0	70.0	69.0					2																	99786049		2203	4292	6495	SO:0001583	missense	129531	0	0					g.chr2:99786049C>A	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.618G>T	chr2.hg19:g.99786049C>A	ENSP00000289359:p.Lys206Asn	1					MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000410042.1_Intron	p.K206N	NM_138798.1	NP_620153.1	1	2	3	2.195803	Q8WV92	MITD1_HUMAN		6	694	-			Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	1	1	hg19	c.618G>T	CCDS2040.1	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852900	0.71719	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.53640	0.61;0.64	5.64	2.41	0.29592	5.64	2.41	0.29592	.	0.188632	0.53938	D	0.000050	T	0.68458	0.3003	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.68157	-0.5483	10	0.54805	T	0.06	-6.5332	8.9691	0.35894	0.0:0.7264:0.0:0.2736	.	206	Q8WV92	MITD1_HUMAN	N	188;206;177	ENSP00000289359:K206N;ENSP00000387316:K177N	ENSP00000289359:K206N	K	-	3	2	2	MITD1	99152481	99152481	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.297000	0.22615	0.650000	0.86243	AAG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_138798			99	98		330	327	1		1	1		0	0	98	0		1	1	0	44	0	98	0	99	330
MITD1	129531	broad.mit.edu	37	2	99797352	99797352	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000338148.3_5'Flank|C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	31	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577																																						ENST00000289359.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(91-93)taT>taC		MIT, microtubule interacting and transport, domain containing 1							93.0	91.0	92.0					2																	99797352		2203	4300	6503	SO:0001819	synonymous_variant	129531	0	0					g.chr2:99797352A>G	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.93T>C	chr2.hg19:g.99797352A>G		1					MITD1_ENST00000466880.1_5'Flank|C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000338148.3_5'Flank|MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000410042.1_Intron	p.Y31Y	NM_138798.1	NP_620153.1	1	2	3	2.195803	Q8WV92	MITD1_HUMAN		1	169	-			Q69YV0	Silent	SNP	ENST00000289359.2	1	1	hg19	c.93T>C	CCDS2040.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_138798			142	140		422	405	1		1	1		0	0	101	0		1	1	0	51	0	67	0	142	422
LYG2	254773	broad.mit.edu	37	2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T	rs368752128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000409238.1	-	5	609	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000333017.2_Missense_Mutation_p.V197I|LYG2_ENST00000423800.1_3'UTR			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	197					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463																																						ENST00000409238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(589-591)Gtc>Atc		lysozyme G-like 2		C	ILE/VAL	0,4406		0,0,2203	148.0	140.0	143.0		589	1.1	0.0	2		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYG2	NM_175735.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	197/213	99858877	1,13005	2203	4300	6503	SO:0001583	missense	254773	14	121412	44				g.chr2:99858877C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.589G>A	chr2.hg19:g.99858877C>T	ENSP00000386939:p.Val197Ile	1					LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.V197I	p.V197I			1	2	3	2.195803	Q86SG7	LYG2_HUMAN		5	609	-			Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	1	1	hg19	c.589G>A	CCDS2042.1	1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534530	0.27475	0.0	1.16E-4	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	1.12	0.20585	5.22	1.12	0.20585	Lysozyme-like domain (1);	0.831283	0.10545	N	0.662243	T	0.35189	0.0923	M	0.68317	2.08	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.31166	-0.9953	8	.	.	.	-11.8698	3.2272	0.06736	0.1853:0.513:0.0:0.3017	.	197	Q86SG7	LYG2_HUMAN	I	197	.	.	V	-	1	0	0	LYG2	99225309	99225309	0.039000	0.19947	0.001000	0.08648	0.521000	0.34408	0.511000	0.22739	0.353000	0.24079	0.563000	0.77884	GTC	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_175735			126	124		617	603	1		1			0	0	135	0		1	0	0	0	0	0	0	126	617
LYG2	254773	broad.mit.edu	37	2	99863270	99863270	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409238.1	-	2	77	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000333017.2_Silent_p.G19G|LYG2_ENST00000409679.1_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	19				G -> S (in Ref. 4; AAK16605/AAO32945). {ECO:0000305}.	cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498																																						ENST00000409238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(55-57)ggC>ggT		lysozyme G-like 2							134.0	115.0	122.0					2																	99863270		2203	4300	6503	SO:0001819	synonymous_variant	254773	1	121412	28				g.chr2:99863270G>A	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.57C>T	chr2.hg19:g.99863270G>A		1					LYG2_ENST00000409679.1_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G	p.G19G			1	2	3	2.195803	Q86SG7	LYG2_HUMAN		2	77	-			Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	1	1	hg19	c.57C>T	CCDS2042.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	0	0	1		16	2	2	1		1	1	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_175735			69	67		340	334	1		1	0		1	0	85	0		1	1.372937e-01	0	0	0	4	0	69	340
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	104					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493																																						ENST00000409448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(310-312)ggC>ggT		lysozyme G-like 1							163.0	135.0	145.0					2																	99907721		2203	4300	6503	SO:0001819	synonymous_variant	129530	2	121412	35				g.chr2:99907721G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.312C>T	chr2.hg19:g.99907721G>A		1					LYG1_ENST00000308528.4_Silent_p.G104G	p.G104G			1	2	3	2.195803	Q8N1E2	LYG1_HUMAN		6	628	-			Q53RV9	Silent	SNP	ENST00000409448.1	1	1	hg19	c.312C>T	CCDS2043.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-4.925135	1	0.170000	NM_174898			88	85		277	271	1		1	1		0	0	86	0		1	3.514673e-01	0	2	0	3	0	88	277
LYG1	129530	broad.mit.edu	37	2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	43					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		16491	0.0		0.0	False		,,,				2504	0.002					ENST00000409448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(127-129)Cgt>Tgt		lysozyme G-like 1		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	178.0	166.0	170.0		127	-0.6	0.0	2	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LYG1	NM_174898.2	180	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	43/195	99909020	4,13002	2203	4300	6503	SO:0001583	missense	129530	43	121412	49				g.chr2:99909020G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.127C>T	chr2.hg19:g.99909020G>A	ENSP00000386923:p.Arg43Cys	1					LYG1_ENST00000308528.4_Missense_Mutation_p.R43C	p.R43C			1	2	3	2.195803	Q8N1E2	LYG1_HUMAN		5	443	-			Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	1	1	hg19	c.127C>T	CCDS2043.1	1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256644	0.10185	6.81E-4	1.16E-4	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-0.638	0.11500	5.07	-0.638	0.11500	Lysozyme-like domain (1);	0.951849	0.08712	N	0.904759	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	8	.	.	.	-2.7594	1.3392	0.02151	0.2605:0.1757:0.4246:0.1392	.	43	Q8N1E2	LYG1_HUMAN	C	43	.	.	R	-	1	0	0	LYG1	99275452	99275452	0.152000	0.22762	0.007000	0.13788	0.007000	0.05969	1.098000	0.31000	0.013000	0.14918	-0.742000	0.03525	CGT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_174898			80	79		383	379	1		1	0		0	0	85	0		1	1.427302e-01	0	1	0	3	0	80	383
LYG1	129530	broad.mit.edu	37	2	99909057	99909057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	30					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493																																						ENST00000409448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(88-90)agC>agT		lysozyme G-like 1							176.0	162.0	167.0					2																	99909057		2203	4300	6503	SO:0001819	synonymous_variant	129530	0	0					g.chr2:99909057G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.90C>T	chr2.hg19:g.99909057G>A		1					LYG1_ENST00000308528.4_Silent_p.S30S	p.S30S			1	2	3	2.195803	Q8N1E2	LYG1_HUMAN		5	406	-			Q53RV9	Silent	SNP	ENST00000409448.1	1	1	hg19	c.90C>T	CCDS2043.1	1																																																																																								2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	0		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_174898			126	124		323	318	0		1	0		0	0	96	0		1	0	0	0	0	1	0	126	323
LYG1	129530	broad.mit.edu	37	2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	17					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423																																						ENST00000409448.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(49-51)tCt>tAt		lysozyme G-like 1							128.0	117.0	121.0					2																	99909097		2203	4300	6503	SO:0001583	missense	129530	0	0					g.chr2:99909097G>T	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.50C>A	chr2.hg19:g.99909097G>T	ENSP00000386923:p.Ser17Tyr	1					LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y	p.S17Y			1	2	3	2.195803	Q8N1E2	LYG1_HUMAN		5	366	-			Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	1	1	hg19	c.50C>A	CCDS2043.1	1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972393	0.34848	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.8	3.92	0.45320	4.8	3.92	0.45320	.	0.526107	0.17509	N	0.171684	T	0.31040	0.0784	N	0.22421	0.69	0.24994	N	0.99152	P	0.43701	0.815	P	0.48840	0.592	T	0.06752	-1.0809	8	.	.	.	-6.9946	8.8058	0.34936	0.102:0.0:0.898:0.0	.	17	Q8N1E2	LYG1_HUMAN	Y	17	.	.	S	-	2	0	0	LYG1	99275529	99275529	0.872000	0.30054	0.663000	0.29738	0.167000	0.22549	2.662000	0.46766	1.251000	0.43983	-0.136000	0.14681	TCT	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	0		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_174898			59	56		272	264	0		1	0		0	0	71	0		1	1.521465e-01	0	0	0	4	0	59	272
EIF5B	9669	broad.mit.edu	37	2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	416					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)			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						AGAGAAGCCAGAGCCAGAGCC	0.398																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1246-1248)aGa>aTa		eukaryotic translation initiation factor 5B							133.0	134.0	134.0					2																	99980843		1859	4099	5958	SO:0001583	missense	9669	0	0					g.chr2:99980843G>T	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.1247G>T	chr2.hg19:g.99980843G>T	ENSP00000289371:p.Arg416Ile	1						p.R416I	NM_015904.3	NP_056988.3	1	2	3	2.195803	O60841	IF2P_HUMAN		6	1449	+			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	1	1	hg19	c.1247G>T	CCDS42721.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617668	0.87359	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.9	4.06	0.47325	5.9	4.06	0.47325	.	.	.	.	.	T	0.51244	0.1663	M	0.79926	2.475	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.58070	-0.7701	8	.	.	.	-10.0582	12.1601	0.54099	0.0656:0.1197:0.8148:0.0	.	416	O60841	IF2P_HUMAN	I	416	ENSP00000289371:R416I	.	R	+	2	0	0	EIF5B	99347275	99347275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.325000	0.65869	1.488000	0.48433	0.650000	0.86243	AGA	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000	NM_015904			101	101		558	546	1		1	1		0	0	169	0		1	1	0	98	0	303	0	101	558
PDCD1	5133	broad.mit.edu	37	2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTCCTGGCCGGGCTGGCTGCG	0.642																																						ENST00000334409.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				8						c.(265-267)cCc>cTc		programmed cell death 1							41.0	42.0	42.0					2																	242794943		2203	4300	6503	SO:0001583	missense	5133	0	0					g.chr2:242794943G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.266C>T	chr2.hg19:g.242794943G>A	ENSP00000335062:p.Pro89Leu	1						p.P89L	NM_005018.2	NP_005009.2	1	2	3	2.111737	Q15116	PDCD1_HUMAN		2	335	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	1	1	hg19	c.266C>T	CCDS33428.1	1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439872	0.43326	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.17854	2.25	3.01	-0.0193	0.13960	3.01	-0.0193	0.13960	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.180690	0.06298	N	0.700368	T	0.27900	0.0687	M	0.79805	2.47	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.50708	0.648;0.648	T	0.19484	-1.0304	10	0.66056	D	0.02	-2.1115	1.7204	0.02910	0.1259:0.2057:0.4576:0.2109	.	89;89	Q8IX89;Q15116	.;PDCD1_HUMAN	L	89	ENSP00000335062:P89L	ENSP00000335062:P89L	P	-	2	0	0	PDCD1	242443616	242443616	0.041000	0.20044	0.001000	0.08648	0.685000	0.39939	0.153000	0.16323	-0.013000	0.14199	0.457000	0.33378	CCC	2.283735e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_005018			37	39		218	216	1		1	0		0	0	28	0		1	9.032919e-01	0	0	0	26	0	37	218
TOMM70A	9868	broad.mit.edu	37	3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	414					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358																																						ENST00000284320.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1240-1242)Ctt>Att		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							109.0	105.0	106.0					3																	100092477		2203	4300	6503	SO:0001583	missense	9868	0	0					g.chr3:100092477G>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1240C>A	chr3.hg19:g.100092477G>T	ENSP00000284320:p.Leu414Ile	0						p.L414I	NM_014820.4	NP_055635.3	1	2	3	1.998468	O94826	TOM70_HUMAN		8	1688	-			D3DN48	Missense_Mutation	SNP	ENST00000284320.5	1	1	hg19	c.1240C>A	CCDS33807.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085829	0.76642	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.64991	-0.13	5.89	5.89	0.94794	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.76938	2.355	0.80722	D	1	P	0.51791	0.948	P	0.50570	0.644	T	0.74182	-0.3748	10	0.56958	D	0.05	-8.5736	13.4529	0.61182	0.0712:0.0:0.9288:0.0	.	414	O94826	TOM70_HUMAN	I	414;307	ENSP00000284320:L414I	ENSP00000284320:L414I	L	-	1	0	0	TOMM70A	101575167	101575167	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.954000	0.70298	2.783000	0.95769	0.655000	0.94253	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-2.996473	1	0.170000				63	62		291	289	1		1	1		0	0	61	0		1	1	0	55	0	173	0	63	291
TOMM70A	9868	broad.mit.edu	37	3	100103350	100103350	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	236					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358																																						ENST00000284320.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(706-708)ggA>ggT		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							125.0	125.0	125.0					3																	100103350		2202	4300	6502	SO:0001819	synonymous_variant	9868	0	0					g.chr3:100103350T>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.708A>T	chr3.hg19:g.100103350T>A		0						p.G236G	NM_014820.4	NP_055635.3	1	2	3	1.998468	O94826	TOM70_HUMAN		4	1156	-			D3DN48	Silent	SNP	ENST00000284320.5	1	1	hg19	c.708A>T	CCDS33807.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				68	69		333	328	1		1	1		0	0	67	0		1	1	0	54	0	185	0	68	333
LNP1	348801	broad.mit.edu	37	3	100170652	100170652	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443																																						ENST00000383693.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(244-246)gtA>gtG		leukemia NUP98 fusion partner 1							101.0	92.0	95.0					3																	100170652		1876	4094	5970	SO:0001819	synonymous_variant	348801	0	0					g.chr3:100170652A>G		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.246A>G	chr3.hg19:g.100170652A>G		0					LNP1_ENST00000489752.1_Silent_p.V95V	p.V82V	NM_001085451.1	NP_001078920.1	1	2	3	1.998468	A1A4G5	LNP1_HUMAN		3	1526	+			B7ZLT3	Silent	SNP	ENST00000383693.3	1	1	hg19	c.246A>G	CCDS43120.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				76	77		314	313	1		1	1		0	0	74	0		1	9.799761e-01	0	2	0	26	0	76	314
TMEM45A	55076	broad.mit.edu	37	3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000323523.4	+	5	1035	c.722C>A	c.(721-723)gCt>gAt	p.A241D	TMEM45A_ENST00000403410.1_Missense_Mutation_p.A257D	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	241						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353																																						ENST00000323523.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(721-723)gCt>gAt		transmembrane protein 45A							252.0	241.0	244.0					3																	100287799		2203	4300	6503	SO:0001583	missense	55076	0	0					g.chr3:100287799C>A	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.722C>A	chr3.hg19:g.100287799C>A	ENSP00000319009:p.Ala241Asp	0					TMEM45A_ENST00000403410.1_Missense_Mutation_p.A257D	p.A241D	NM_018004.1	NP_060474.1	1	2	3	1.998468	Q9NWC5	TM45A_HUMAN		5	1035	+			Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	1	1	hg19	c.722C>A	CCDS2937.1	1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642226	0.29157	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.46819	0.86;0.86	5.81	1.73	0.24493	5.81	1.73	0.24493	.	0.392722	0.31061	N	0.008325	T	0.52533	0.1740	M	0.75447	2.3	0.20563	N	0.999889	D	0.55800	0.973	P	0.52856	0.711	T	0.44143	-0.9347	10	0.36615	T	0.2	-2.4107	6.2562	0.20876	0.0:0.5907:0.1208:0.2885	.	241	Q9NWC5	TM45A_HUMAN	D	241;257	ENSP00000319009:A241D;ENSP00000385089:A257D	ENSP00000319009:A241D	A	+	2	0	0	TMEM45A	101770489	101770489	0.332000	0.24722	0.012000	0.15200	0.057000	0.15508	0.324000	0.19610	0.032000	0.15435	0.555000	0.69702	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	1	0	1		19	7	2	1		1	1	171		171	168	1	2.060000	-20.000000	1	0.170000	NM_018004			168	164		748	738	1		1	1		1	0	171	0		1	1	0	14	0	198	0	168	748
GPR128	84873	broad.mit.edu	37	3	100378676	100378676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000273352.3	+	14	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	656					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)			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						AGAATAACCAGAACCTGACAA	0.438																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				56						c.(1966-1968)caG>caA		G protein-coupled receptor 128							134.0	125.0	128.0					3																	100378676		2203	4300	6503	SO:0001819	synonymous_variant	84873	0	0					g.chr3:100378676G>A	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.1968G>A	chr3.hg19:g.100378676G>A		0					GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	p.Q656Q	NM_032787.2	NP_116176.2	1	2	3	1.998468	Q96K78	GP128_HUMAN		14	2236	+			Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	1	1	hg19	c.1968G>A	CCDS2938.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				48	47		258	255	1		1			0	0	67	0		1	0	0	0	0	0	0	48	258
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	3					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q11-q12	3q11-q12	10342	T	TRK-fused gene				"""E, L"""	E, L	NTRK1, ALK		papillary thyroid, ALCL, NSCLC	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	1	Substitution - Nonsense(1)	p.G3*(1)	lung(1)	8						c.(7-9)Gga>Aga		TRK-fused gene							98.0	93.0	94.0					3																	100432536		2203	4300	6503	SO:0001583	missense	10342	0	0					g.chr3:100432536G>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.7G>A	chr3.hg19:g.100432536G>A	ENSP00000240851:p.Gly3Arg	0					TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	1	2	3	1.998468	Q92734	TFG_HUMAN		2	347	+			D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	1	1	hg19	c.7G>A	CCDS2939.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.102352	0.94245	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58880	-0.7558	10	0.62326	D	0.03	-10.1794	20.2985	0.98592	0.0:0.0:1.0:0.0	.	3;3	G5E9V1;Q92734	.;TFG_HUMAN	R	3	ENSP00000397182:G3R;ENSP00000419960:G3R;ENSP00000240851:G3R;ENSP00000419559:G3R;ENSP00000417952:G3R;ENSP00000419504:G3R;ENSP00000420797:G3R	ENSP00000240851:G3R	G	+	1	0	0	TFG	101915226	101915226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.167000	0.94773	2.793000	0.96121	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.014581	1	0.170000	NM_006070			86	85		322	319	1		1	1		0	0	76	0		1	1	0	50	0	101	0	86	322
TFG	10342	broad.mit.edu	37	3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	130					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q11-q12	3q11-q12	10342	T	TRK-fused gene				"""E, L"""	E, L	NTRK1, ALK		papillary thyroid, ALCL, NSCLC	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				8						c.(388-390)Gga>Tga		TRK-fused gene							94.0	99.0	98.0					3																	100447675		2203	4300	6503	SO:0001587	stop_gained	10342	0	0					g.chr3:100447675G>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.388G>T	chr3.hg19:g.100447675G>T	ENSP00000240851:p.Gly130*	0					TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	1	2	3	1.998468	Q92734	TFG_HUMAN		4	728	+			D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	0	1	hg19	c.388G>T	CCDS2939.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505062	0.85282	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.047579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7445	18.9749	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000240851:G130X	G	+	1	0	0	TFG	101930365	101930365	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.133000	0.94460	2.527000	0.85204	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-2.976683	1	0.170000	NM_006070			83	83		384	379	0		1	1		0	0	134	0		1	1	0	3	0	312	0	83	384
ABI3BP	25890	broad.mit.edu	37	3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000284322.5	-	30	2810	c.2701C>A	c.(2701-2703)Ctg>Atg	p.L901M	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L1603M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	901	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368																																						ENST00000284322.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				50						c.(2701-2703)Ctg>Atg		ABI family, member 3 (NESH) binding protein							156.0	141.0	146.0					3																	100484701		1864	4101	5965	SO:0001583	missense	25890	0	0					g.chr3:100484701G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2701C>A	chr3.hg19:g.100484701G>T	ENSP00000284322:p.Leu901Met	0					ABI3BP_ENST00000471714.1_Missense_Mutation_p.L1603M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	p.L901M	NM_015429.3	NP_056244.2	1	2	3	1.998468	Q7Z7G0	TARSH_HUMAN		30	2810	-			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	1	1	hg19	c.2701C>A	CCDS46880.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514097	0.85389	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.92649	3.33	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	0.95046	0.8182	10	0.87932	D	0	-11.0298	20.2963	0.98556	0.0:0.0:1.0:0.0	.	855;901;1603;610	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	M	1603;901;610;312;855	ENSP00000420524:L1603M;ENSP00000284322:L901M;ENSP00000373189:L855M	ENSP00000284322:L901M	L	-	1	2	2	ABI3BP	101967391	101967391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.813000	0.96785	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				16	16		53	53	1		1	1		0	0	17	0		9.999695e-01	9.999987e-01	0	2	0	95	0	16	53
ABI3BP	25890	broad.mit.edu	37	3	100493516	100493516	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000284322.5	-	28	2440	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ABI3BP_ENST00000471714.1_Splice_Site_p.E1479D|ABI3BP_ENST00000383691.4_Splice_Site_p.E731D	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	777					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTTATATTTTCTGAGAATG	0.333																																						ENST00000284322.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999524	0.990000	1.000000																										0				50						c.(2329-2331)gaA>gaC		ABI family, member 3 (NESH) binding protein							53.0	48.0	49.0					3																	100493516		1809	4063	5872	SO:0001630	splice_region_variant	25890	0	0					g.chr3:100493516T>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2330-1A>C	chr3.hg19:g.100493516T>G		0					ABI3BP_ENST00000471714.1_Splice_Site_p.E1479D|ABI3BP_ENST00000383691.4_Splice_Site_p.E731D	p.E777D	NM_015429.3	NP_056244.2	1	2	3	1.998468	Q7Z7G0	TARSH_HUMAN		28	2440	-			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Splice_Site	SNP	ENST00000284322.5	0	1	hg19	c.2331A>C	CCDS46880.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.291|9.291	1.050645|1.050645	0.19827|0.19827	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591	T;T;T|.	0.23950|.	2.25;1.88;1.88|.	5.54|5.54	0.522|0.522	0.17053|0.17053	5.54|5.54	0.522|0.522	0.17053|0.17053	.|.	0.388069|.	0.29565|.	N|.	0.011793|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.02539|0.02539	-0.55|-0.55	0.23673|0.23673	N|N	0.997144|0.997144	B;B;B;B|.	0.15719|.	0.0;0.0;0.014;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.001|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.13108|.	T|.	0.6|.	.|.	4.9816|4.9816	0.14168|0.14168	0.6554:0.0:0.2149:0.1298|0.6554:0.0:0.2149:0.1298	.|.	731;777;1479;486|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	D|T	1479;777;486;188;731;189|833	ENSP00000420524:E1479D;ENSP00000284322:E777D;ENSP00000373189:E731D|.	ENSP00000284322:E777D|.	E|K	-|-	3|2	2|0	2|0	ABI3BP|ABI3BP	101976206|101976206	101976206|101976206	0.945000|0.945000	0.32115|0.32115	0.611000|0.611000	0.29010|0.29010	0.845000|0.845000	0.48019|0.48019	1.347000|1.347000	0.33975|0.33975	0.071000|0.071000	0.16664|0.16664	-0.710000|-0.710000	0.03640|0.03640	GAA|AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.898920	1	0.170000		Missense_Mutation		9	8		20	20	0		1	1		0	0	9	0		9.960654e-01	9.999862e-01	0	11	0	60	0	9	20
ABI3BP	25890	broad.mit.edu	37	3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000284322.5	-	18	1656	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	ABI3BP_ENST00000471714.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	516	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGTTTCAGAGAAATAAATTG	0.333																																						ENST00000284322.5	1.000000	0.450000	1	7.700000e-01	0.990000	0.920563	0.990000	1.000000																										0				50						c.(1546-1548)tCt>tAt		ABI family, member 3 (NESH) binding protein							58.0	55.0	56.0					3																	100565266		1799	4064	5863	SO:0001583	missense	25890	0	0					g.chr3:100565266G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1547C>A	chr3.hg19:g.100565266G>T	ENSP00000284322:p.Ser516Tyr	0					ABI3BP_ENST00000471714.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR	p.S516Y	NM_015429.3	NP_056244.2	1	2	3	1.998468	Q7Z7G0	TARSH_HUMAN		18	1656	-			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	0	1	hg19	c.1547C>A	CCDS46880.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.82|14.82|14.82	2.650312|2.650312|2.650312	0.47362|0.47362|0.47362	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000495591;ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.|T;T;T	.|.|0.59224	.|.|0.28;0.28;0.28	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|.|.	.|.|0.864209	.|.|0.10324	.|.|N	.|.|0.688353	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P	.|.|0.58620	.|.|0.983;0.94	.|.|P;P	.|.|0.58873	.|.|0.847;0.548	T|T|T	0.49143|0.49143|0.49143	-0.8970|-0.8970|-0.8970	5|5|10	.|.|0.02654	.|.|T	.|.|1	-0.434|-0.434|-0.434	12.4487|12.4487|12.4487	0.55666|0.55666|0.55666	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|.|565;516	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	L|I|Y	3|3;33;194|565;516;565	.|.|ENSP00000420524:S565Y;ENSP00000284322:S516Y;ENSP00000433993:S565Y	.|.|ENSP00000284322:S516Y	F|L|S	-|-|-	3|1|2	2|0|0	2|0|0	ABI3BP|ABI3BP|ABI3BP	102047956|102047956|102047956	102047956|102047956|102047956	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	3.106000|3.106000|3.106000	0.50322|0.50322|0.50322	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CTC|TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-9.480615	1	0.170000				4	4		34	34	1		1	1		0	0	14	0		8.939601e-01	9.802507e-01	0	9	0	63	0	4	34
ABI3BP	25890	broad.mit.edu	37	3	100569529	100569529	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000284322.5	-	14	1384	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	ABI3BP_ENST00000471714.1_Silent_p.T474T|ABI3BP_ENST00000495063.1_Silent_p.T474T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	425	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353																																						ENST00000284322.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1273-1275)acT>acC		ABI family, member 3 (NESH) binding protein							130.0	127.0	128.0					3																	100569529		1807	4070	5877	SO:0001819	synonymous_variant	25890	0	0					g.chr3:100569529A>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1275T>C	chr3.hg19:g.100569529A>G		0					ABI3BP_ENST00000471714.1_Silent_p.T474T|ABI3BP_ENST00000495063.1_Silent_p.T474T	p.T425T	NM_015429.3	NP_056244.2	1	2	3	1.998468	Q7Z7G0	TARSH_HUMAN		14	1384	-			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	1	1	hg19	c.1275T>C	CCDS46880.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.425|9.425	1.084092|1.084092	0.20309|0.20309	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682	.|.	.|.	.|.	5.87|5.87	3.32|3.32	0.38043|0.38043	5.87|5.87	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.60314|0.60314	0.2259|0.2259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57505|0.57505	-0.7800|-0.7800	4|4	.|.	.|.	.|.	-11.1312|-11.1312	10.663|10.663	0.45712|0.45712	0.7473:0.0:0.0:0.2526|0.7473:0.0:0.0:0.2526	.|.	.|.	.|.	.|.	P|P	103|51	.|.	.|.	L|S	-|-	2|1	0|0	0|0	ABI3BP|ABI3BP	102052219|102052219	102052219|102052219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.996000|2.996000	0.49449|0.49449	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CTC|TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	1		18	6	2	1		1	1	59		59	59	1	2.060000	-3.249642	1	0.170000				53	53		268	262	1		1	1		1	0	59	0		9.999968e-01	9.494827e-01	0	10	0	53	0	53	268
ABI3BP	25890	broad.mit.edu	37	3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000284322.5	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	51					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448																																						ENST00000284322.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(151-153)Ctc>Ttc		ABI family, member 3 (NESH) binding protein							208.0	203.0	205.0					3																	100645275		1986	4155	6141	SO:0001583	missense	25890	0	0					g.chr3:100645275G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.151C>T	chr3.hg19:g.100645275G>A	ENSP00000284322:p.Leu51Phe	0					ABI3BP_ENST00000471714.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR	p.L51F	NM_015429.3	NP_056244.2	1	2	3	1.998468	Q7Z7G0	TARSH_HUMAN		2	260	-			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	1	1	hg19	c.151C>T	CCDS46880.1	1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250444	0.22880	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.24538	2.05;1.85	5.55	-1.72	0.08107	5.55	-1.72	0.08107	.	0.439683	0.23856	N	0.043881	T	0.12178	0.0296	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.11329	0.006;0.002;0.004	T	0.11494	-1.0585	10	0.35671	T	0.21	-0.1114	8.3435	0.32258	0.5828:0.1163:0.3009:0.0	.	44;51;51	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	51	ENSP00000420524:L51F;ENSP00000284322:L51F	ENSP00000284322:L51F	L	-	1	0	0	ABI3BP	102127965	102127965	0.991000	0.36638	0.840000	0.33206	0.930000	0.56654	0.214000	0.17541	-0.757000	0.04697	-0.808000	0.03180	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.192799	1	0.170000				43	43		196	191	1		1	0		0	0	45	0		1	9.986997e-01	0	1	0	48	0	43	196
IMPG2	50939	broad.mit.edu	37	3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	384					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)			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)	AACTCACCATTGATAAGCTGC	0.373																																						ENST00000193391.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1150-1152)Aat>Gat		interphotoreceptor matrix proteoglycan 2	Hyaluronan(DB08818)						120.0	125.0	123.0					3																	100976376		2203	4299	6502	SO:0001583	missense	50939	0	0					g.chr3:100976376T>C	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.1150A>G	chr3.hg19:g.100976376T>C	ENSP00000193391:p.Asn384Asp	0						p.N384D	NM_016247.3	NP_057331.2	1	2	3	1.998468	Q9BZV3	IMPG2_HUMAN		10	1337	-			A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	1	1	hg19	c.1150A>G	CCDS2940.1	1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509095	0.64410	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.51	3.14	0.36123	5.51	3.14	0.36123	.	0.396828	0.25984	N	0.027048	T	0.19167	0.0460	L	0.32530	0.975	0.28038	N	0.933874	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.4698	0.44629	0.0:0.089:0.0:0.911	.	384;384	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	384	ENSP00000193391:N384D	ENSP00000193391:N384D	N	-	1	0	0	IMPG2	102459066	102459066	1.000000	0.71417	0.931000	0.37212	0.975000	0.68041	2.900000	0.48687	0.397000	0.25310	0.379000	0.24179	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000				127	126		596	589	1		1			0	0	143	0		1	0	0	0	0	0	0	127	596
SENP7	57337	broad.mit.edu	37	3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A	rs374261191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	954	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R888*(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						ACTTACTCTCGTAAATTCTGA	0.318																																						ENST00000394095.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R888*(2)	large_intestine(1)|breast(1)	44						c.(2860-2862)Cga>Tga		SUMO1/sentrin specific peptidase 7		G	stop/ARG,stop/ARG	0,4406		0,0,2203	84.0	96.0	92.0		2665,2860	4.5	1.0	3		92	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained,stop-gained	SENP7	NM_001077203.1,NM_020654.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	889/986,954/1051	101047326	1,13001	2203	4298	6501	SO:0001587	stop_gained	57337	0	0					g.chr3:101047326G>A		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.2860C>T	chr3.hg19:g.101047326G>A	ENSP00000377655:p.Arg954*	0					SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*	p.R954*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	1	2	3	1.998468	Q9BQF6	SENP7_HUMAN		22	2913	-			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	0	1	hg19	c.2860C>T	CCDS2941.2	1	.	.	.	.	.	.	.	.	.	.	G	39	7.580735	0.98371	0.0	1.16E-4	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	4.47	0.54385	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8682	0.57951	0.0:0.0:0.752:0.248	.	.	.	.	X	954;889;888;790;790;142;921	.	ENSP00000313624:R888X	R	-	1	2	2	SENP7	102530016	102530016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.086000	0.30853	2.543000	0.85770	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_020654			80	78		354	351	1		1	1		0	0	121	0		1	9.916404e-01	0	4	0	31	0	80	354
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000419585.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Fanconi anaemia D2	yes	Rec		Fanconi anaemia D2	3	3p26	3p26	2177	D, Mis, N, F	"""Fanconi anemia, complementation group D2"""				L	L		AML, leukemia			0				51						c.(2230-2232)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							178.0	177.0	177.0					3																	10107141		2203	4300	6503	SO:0001819	synonymous_variant	2177	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr3:10107141G>A	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.2232G>A	chr3.hg19:g.10107141G>A		0					FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q	p.Q744Q			1	2	3	1.998468	Q9BXW9	FACD2_HUMAN		24	2393	+			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	1	1	hg19	c.2232G>A	CCDS33696.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-3.290866	1	0.170000				101	99		455	448	0		1	0		0	0	112	0		1	5.068308e-01	0	1	0	8	0	101	455
SENP7	57337	broad.mit.edu	37	3	101047522	101047522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000348610.3_Silent_p.S888S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	921	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			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						CTGACATATTCGACTCGGTAC	0.274																																						ENST00000394095.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				44						c.(2761-2763)tcG>tcA		SUMO1/sentrin specific peptidase 7							69.0	69.0	69.0					3																	101047522		2203	4293	6496	SO:0001819	synonymous_variant	57337	1	121296	28				g.chr3:101047522C>T		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.2763G>A	chr3.hg19:g.101047522C>T		0					SENP7_ENST00000348610.3_Silent_p.S888S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000394085.3_Silent_p.S109S	p.S921S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	1	2	3	1.998468	Q9BQF6	SENP7_HUMAN		21	2816	-			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	1	1	hg19	c.2763G>A	CCDS2941.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.535185	1	0.170000	NM_020654			27	27		101	100	1		1	1		0	0	37	0		1	9.970791e-01	0	6	0	32	0	27	101
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000348610.3_Silent_p.K295K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	328						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			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						CATCTTCTTGTTTTTTCTAAA	0.274																																						ENST00000394095.2	1.000000	0.680000	1	8.600000e-01	0.990000	0.951075	0.990000	1.000000																										0				44						c.(982-984)aaA>aaG		SUMO1/sentrin specific peptidase 7							66.0	65.0	66.0					3																	101085608		2203	4299	6502	SO:0001819	synonymous_variant	57337	0	0					g.chr3:101085608T>C		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.984A>G	chr3.hg19:g.101085608T>C		0					SENP7_ENST00000348610.3_Silent_p.K295K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000394091.1_Silent_p.K164K	p.K328K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	1	2	3	1.998468	Q9BQF6	SENP7_HUMAN		9	1037	-			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	1	1	hg19	c.984A>G	CCDS2941.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.318796	1	0.170000	NM_020654			21	21		214	210	0		1	0		0	0	27	0		9.999977e-01	6.938102e-01	0	1	0	25	0	21	214
SENP7	57337	broad.mit.edu	37	3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	253						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			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						AGAAATGCCATCATCCTTTCT	0.338																																						ENST00000394095.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				44						c.(757-759)gAt>gCt		SUMO1/sentrin specific peptidase 7							110.0	105.0	106.0					3																	101090890		2203	4300	6503	SO:0001583	missense	57337	0	0					g.chr3:101090890T>G		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.758A>C	chr3.hg19:g.101090890T>G	ENSP00000377655:p.Asp253Ala	0					SENP7_ENST00000348610.3_Missense_Mutation_p.D220A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A	p.D253A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	1	2	3	1.998468	Q9BQF6	SENP7_HUMAN		7	811	-			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	1	1	hg19	c.758A>C	CCDS2941.2	1	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716243	0.15306	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20598	2.06;2.08;2.09;2.07;2.07;2.07	5.1	1.29	0.21616	5.1	1.29	0.21616	.	0.413140	0.20689	N	0.087483	T	0.16685	0.0401	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.42296	0.775;0.4;0.4;0.068	B;B;B;B	0.39660	0.306;0.173;0.124;0.009	T	0.12268	-1.0554	10	0.27082	T	0.32	-3.139	4.088	0.09957	0.0:0.1866:0.1797:0.6336	.	89;187;220;253	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	253;188;187;89;89;220	ENSP00000377655:D253A;ENSP00000377654:D188A;ENSP00000313624:D187A;ENSP00000377651:D89A;ENSP00000350936:D89A;ENSP00000342159:D220A	ENSP00000313624:D187A	D	-	2	0	0	SENP7	102573580	102573580	0.005000	0.15991	0.035000	0.18076	0.016000	0.09150	-0.050000	0.11904	0.044000	0.15775	0.477000	0.44152	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-19.999990	1	0.170000	NM_020654			53	52		298	293	1		1	1		0	0	43	0		1	9.264719e-01	0	5	0	22	0	53	298
FANCD2	2177	broad.mit.edu	37	3	10116274	10116274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10116274C>T	ENST00000419585.1	+	29	2937	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	926					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCTTTTTTCCGAGAGCTGGA	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000419585.1	1.000000	0.150000	4.700000e-01	2.200000e-01	0.320000	0.371224	0.320000	0.300000			yes	Rec		Fanconi anaemia D2	yes	Rec		Fanconi anaemia D2	3	3p26	3p26	2177	D, Mis, N, F	"""Fanconi anemia, complementation group D2"""				L	L		AML, leukemia			0				51						c.(2776-2778)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							138.0	124.0	129.0					3																	10116274		2203	4300	6503	SO:0001587	stop_gained	2177	2	121412	29	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr3:10116274C>T	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.2776C>T	chr3.hg19:g.10116274C>T	ENSP00000398754:p.Arg926*	0					FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*	p.R926*			1	2	3	1.998468	Q9BXW9	FACD2_HUMAN		29	2937	+			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	0	1	hg19	c.2776C>T	CCDS33696.1	0	.	.	.	.	.	.	.	.	.	.	C	42	9.551584	0.99202	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	926	.	ENSP00000287647:R926X	R	+	1	2	2	FANCD2	10091274	10091274	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.974000	0.63771	2.749000	0.94314	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.886632	1	0.170000				8	8		304	301	0		1	0		0	0	56	0		9.891889e-01	4.046276e-02	0	0	0	11	0	8	304
SENP7	57337	broad.mit.edu	37	3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	125						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			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						TGTTGGCATCACATAAATTAG	0.398																																						ENST00000394095.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(373-375)tgT>tgG		SUMO1/sentrin specific peptidase 7							187.0	181.0	183.0					3																	101136544		1908	4129	6037	SO:0001583	missense	57337	0	0					g.chr3:101136544A>C		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.375T>G	chr3.hg19:g.101136544A>C	ENSP00000377655:p.Cys125Trp	0					SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000394091.1_Intron	p.C125W	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	1	2	3	1.998468	Q9BQF6	SENP7_HUMAN		5	428	-			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	1	1	hg19	c.375T>G	CCDS2941.2	1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.445967	0.63178	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.49432	0.78;0.78;0.78	5.52	3.06	0.35304	5.52	3.06	0.35304	.	0.305274	0.28871	N	0.013865	T	0.58206	0.2106	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.56001	-0.8051	10	0.66056	D	0.02	-1.7906	7.2869	0.26344	0.7807:0.1453:0.074:0.0	.	92;125	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	W	125;125;92	ENSP00000377655:C125W;ENSP00000377654:C125W;ENSP00000342159:C92W	ENSP00000342159:C92W	C	-	3	2	2	SENP7	102619234	102619234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.026000	0.57232	0.440000	0.26502	0.528000	0.53228	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_020654			102	101		437	429	1		1	1		0	0	114	0		1	9.727017e-01	0	2	0	25	0	102	437
ZBTB11	27107	broad.mit.edu	37	3	101373562	101373562	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353																																						ENST00000312938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2293-2295)ggC>ggA		zinc finger and BTB domain containing 11							122.0	123.0	122.0					3																	101373562		2203	4300	6503	SO:0001819	synonymous_variant	27107	0	0					g.chr3:101373562G>T	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.2295C>A	chr3.hg19:g.101373562G>T		0						p.G765G	NM_014415.3	NP_055230.2	1	2	3	1.998468	O95625	ZBT11_HUMAN		8	2875	-			Q2NKP9	Silent	SNP	ENST00000312938.4	1	1	hg19	c.2295C>A	CCDS2943.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_014415			83	83		425	410	1		1	1		0	0	80	0		1	9.965976e-01	0	13	0	33	0	83	425
ZBTB11	27107	broad.mit.edu	37	3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408																																						ENST00000312938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1597-1599)Gcc>Acc		zinc finger and BTB domain containing 11							154.0	150.0	152.0					3																	101383834		2203	4300	6503	SO:0001583	missense	27107	0	0					g.chr3:101383834C>T	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.1597G>A	chr3.hg19:g.101383834C>T	ENSP00000326200:p.Ala533Thr	0					Y_RNA_ENST00000364251.1_RNA	p.A533T	NM_014415.3	NP_055230.2	1	2	3	1.998468	O95625	ZBT11_HUMAN		4	2177	-			Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	1	1	hg19	c.1597G>A	CCDS2943.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965285	0.34659	.	.	ENSG00000066422	ENST00000312938	T	0.11385	2.78	5.87	5.0	0.66597	5.87	5.0	0.66597	.	0.316831	0.38663	N	0.001614	T	0.05914	0.0154	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.30078	T	0.28	-2.5424	7.5694	0.27898	0.0:0.7063:0.1389:0.1548	.	533	O95625	ZBT11_HUMAN	T	533	ENSP00000326200:A533T	ENSP00000326200:A533T	A	-	1	0	0	ZBTB11	102866524	102866524	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.273000	0.33121	1.496000	0.48567	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_014415			136	135		553	541	1		1	1		0	0	135	0		1	9.999017e-01	0	13	0	43	0	136	553
CEP97	79598	broad.mit.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358																																						ENST00000341893.3	1.000000	0.230000	5.000000e-01	3.000000e-01	0.390000	0.428394	0.390000	0.370000																										0				29						c.(1498-1500)aGt>aAt		centrosomal protein 97kDa							112.0	118.0	116.0					3																	101476949		2203	4300	6503	SO:0001583	missense	79598	0	0					g.chr3:101476949G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1499G>A	chr3.hg19:g.101476949G>A	ENSP00000342510:p.Ser500Asn	0					CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N	p.S500N			1	2	3	1.998468	Q8IW35	CEP97_HUMAN		9	2251	+			B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	1	1	hg19	c.1499G>A	CCDS2944.1	0	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	0	CEP97	102959639	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	0	0	1		2	3	2	1		1	0	108		108	107	1	2.060000	-16.497560	1	0.170000	NM_024548			19	18		574	559	0		1	1		1	0	108	0		9.999880e-01	8.966794e-02	0	3	0	28	0	19	574
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333																																						ENST00000341893.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.F619I(1)	large_intestine(1)	29						c.(1855-1857)Ttt>Att		centrosomal protein 97kDa							75.0	79.0	77.0					3																	101481366		2203	4297	6500	SO:0001583	missense	79598	0	0					g.chr3:101481366T>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1855T>A	chr3.hg19:g.101481366T>A	ENSP00000342510:p.Phe619Ile	0					CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I	p.F619I			1	2	3	1.998468	Q8IW35	CEP97_HUMAN		10	2607	+			B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	1	1	hg19	c.1855T>A	CCDS2944.1	1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	0	CEP97	102964056	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_024548			81	79		276	271	1		1	1		0	0	53	0		1	9.917822e-01	0	8	0	20	0	81	276
TATDN2	9797	broad.mit.edu	37	3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	50					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)			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						GGAGGGCCCAGCAGCCCCAAG	0.667																																						ENST00000287652.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(148-150)aGc>aTc		TatD DNase domain containing 2							51.0	62.0	58.0					3																	10291033		2202	4299	6501	SO:0001583	missense	9797	0	0					g.chr3:10291033G>T	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.149G>T	chr3.hg19:g.10291033G>T	ENSP00000287652:p.Ser50Ile	0					RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	p.S50I	NM_014760.3	NP_055575.3	1	2	3	1.998468	Q93075	TATD2_HUMAN		2	1200	+			Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	1	1	hg19	c.149G>T	CCDS33698.1	1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596076	0.28445	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25250	1.81;1.81	4.16	4.16	0.48862	4.16	4.16	0.48862	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.28926	N	0.891843	B	0.32693	0.38	B	0.34180	0.177	T	0.24048	-1.0171	9	0.87932	D	0	-5.437	12.1708	0.54157	0.0:0.0:1.0:0.0	.	50	Q93075	TATD2_HUMAN	I	50	ENSP00000287652:S50I;ENSP00000408736:S50I	ENSP00000287652:S50I	S	+	2	0	0	TATDN2	10266033	10266033	0.805000	0.28982	0.883000	0.34634	0.029000	0.11900	1.465000	0.35299	2.304000	0.77564	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	1	0	1		2	2	2	0		0	0	128		128	123	1	2.060000	-20.000000	1	0.170000	XM_376203			140	137		619	614	1		1	1		0	0	128	0		1	9.999998e-01	0	16	0	80	0	140	619
TATDN2	9797	broad.mit.edu	37	3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	490					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)			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						CTGGAGCCAAGCCTAGAGGAG	0.498																																						ENST00000287652.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1468-1470)aGc>aAc		TatD DNase domain containing 2							67.0	65.0	66.0					3																	10312335		2203	4300	6503	SO:0001583	missense	9797	0	0					g.chr3:10312335G>A	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.1469G>A	chr3.hg19:g.10312335G>A	ENSP00000287652:p.Ser490Asn	0					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N	p.S490N	NM_014760.3	NP_055575.3	1	2	3	1.998468	Q93075	TATD2_HUMAN		4	2520	+			Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	1	1	hg19	c.1469G>A	CCDS33698.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495864	0.26774	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23950	1.88;1.88	5.0	2.21	0.28008	5.0	2.21	0.28008	.	1.020500	0.07845	N	0.963704	T	0.17023	0.0409	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28808	-1.0032	10	0.54805	T	0.06	-3.2363	3.5254	0.07757	0.2796:0.0:0.5426:0.1779	.	490	Q93075	TATD2_HUMAN	N	490	ENSP00000287652:S490N;ENSP00000408736:S490N	ENSP00000287652:S490N	S	+	2	0	0	TATDN2	10287335	10287335	0.012000	0.17670	0.117000	0.21633	0.411000	0.31082	0.275000	0.18698	0.638000	0.30545	0.644000	0.83932	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	XM_376203			66	65		273	267	1		1	1		0	0	62	0		1	9.999998e-01	0	13	0	85	0	66	273
SEC13	6396	broad.mit.edu	37	3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000350697.3	-	9	1086	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000383801.2_Missense_Mutation_p.E367K	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	321					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)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607																																						ENST00000350697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(961-963)Gag>Aag		SEC13 homolog (S. cerevisiae)							104.0	84.0	91.0					3																	10342953		2203	4300	6503	SO:0001583	missense	6396	0	0					g.chr3:10342953C>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.961G>A	chr3.hg19:g.10342953C>T	ENSP00000312122:p.Glu321Lys	0					SEC13_ENST00000383801.2_Missense_Mutation_p.E367K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397117.1_Intron	p.E321K	NM_183352.1	NP_899195.1	1	2	3	1.998468	P55735	SEC13_HUMAN		9	1086	-			A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	1	1	hg19	c.961G>A	CCDS2599.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616837	0.87359	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.68479	0.93;-0.21;-0.33;-0.33	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.102103	0.64402	D	0.000002	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;B	0.38827	0.649;0.203	B;B	0.28991	0.097;0.012	T	0.65869	-0.6063	10	0.62326	D	0.03	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	367;321	B4DXJ1;P55735	.;SEC13_HUMAN	K	307;324;321;367	ENSP00000380298:E307K;ENSP00000336566:E324K;ENSP00000312122:E321K;ENSP00000373312:E367K	ENSP00000336566:E324K	E	-	1	0	0	SEC13	10317953	10317953	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-3.390273	1	0.170000				88	87		346	339	1		1	1		0	0	89	0		1	1	0	195	0	564	0	88	346
SEC13	6396	broad.mit.edu	37	3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000350697.3	-	4	301	c.176C>A	c.(175-177)cCt>cAt	p.P59H	SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397117.1_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	59					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)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537																																						ENST00000350697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(175-177)cCt>cAt		SEC13 homolog (S. cerevisiae)							96.0	90.0	92.0					3																	10354403		2203	4300	6503	SO:0001583	missense	6396	0	0					g.chr3:10354403G>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.176C>A	chr3.hg19:g.10354403G>T	ENSP00000312122:p.Pro59His	0					SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000397117.1_Missense_Mutation_p.P45H	p.P59H	NM_183352.1	NP_899195.1	1	2	3	1.998468	P55735	SEC13_HUMAN		4	301	-			A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	1	1	hg19	c.176C>A	CCDS2599.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672335	0.88348	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.93	4.93	0.64822	4.93	4.93	0.64822	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	0.77432	0.4129	M	0.67569	2.06	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	T	0.80303	-0.1439	10	0.87932	D	0	.	15.6632	0.77206	0.0:0.0:1.0:0.0	.	59;59;45;105;59	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	45;62;59;45;105;59;62	ENSP00000380298:P45H;ENSP00000336566:P62H;ENSP00000312122:P59H;ENSP00000380306:P45H;ENSP00000373312:P105H;ENSP00000401368:P62H	ENSP00000336566:P62H	P	-	2	0	0	SEC13	10329403	10329403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.715000	0.98748	2.276000	0.75962	0.561000	0.74099	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3	0	0	1		17	22	2	1		1	1	89		89	88	1	2.060000	-3.371160	1	0.170000				81	79		377	369	1		1	1		1	0	89	0		1	1	0	136	0	465	0	81	377
ATP2B2	491	broad.mit.edu	37	3	10400486	10400486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000352432.4	-	13	2094	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A|ATP2B2_ENST00000397077.1_Silent_p.A630A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	675					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)			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						AGTCGCGGTAGGCCACGCAGA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000352432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(2023-2025)gcC>gcT		ATPase, Ca++ transporting, plasma membrane 2							63.0	53.0	56.0					3																	10400486		2203	4300	6503	SO:0001819	synonymous_variant	491	0	0					g.chr3:10400486G>A	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.2025C>T	chr3.hg19:g.10400486G>A		0					ATP2B2_ENST00000397077.1_Silent_p.A630A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A	p.A675A			1	2	3	1.998468	Q01814	AT2B2_HUMAN		13	2094	-			O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	1	1	hg19	c.2025C>T	CCDS33701.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001683			62	63		256	253	1		1			0	0	66	0		1	0	0	0	0	0	0	62	256
ATP2B2	491	broad.mit.edu	37	3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000352432.4	-	12	1775	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M|ATP2B2_ENST00000397077.1_Missense_Mutation_p.T524M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	569					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)			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						GCCGCACTCCGTCTTGTTGCC	0.647																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000352432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				74						c.(1705-1707)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 2							56.0	50.0	52.0					3																	10401761		2203	4300	6503	SO:0001583	missense	491	0	0					g.chr3:10401761G>A	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.1706C>T	chr3.hg19:g.10401761G>A	ENSP00000324172:p.Thr569Met	0					ATP2B2_ENST00000397077.1_Missense_Mutation_p.T524M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M	p.T569M			1	2	3	1.998468	Q01814	AT2B2_HUMAN		12	1775	-			O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	1	1	hg19	c.1706C>T	CCDS33701.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897289	0.91962	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	4.93	4.93	0.64822	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	0.88284	0.6395	M	0.86343	2.81	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	0.90614	0.4554	10	0.87932	D	0	-23.7022	18.1486	0.89667	0.0:0.0:1.0:0.0	.	504;536;569	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	569;524;524;569;555;504;425;569	ENSP00000324172:T569M;ENSP00000373311:T524M;ENSP00000380267:T524M;ENSP00000353414:T569M;ENSP00000344677:T555M;ENSP00000414854:T425M	ENSP00000342954:T569M	T	-	2	0	0	ATP2B2	10376761	10376761	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	9.860000	0.99555	2.272000	0.75746	0.591000	0.81541	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_001683			81	79		344	337	1		1			0	0	79	0		1	0	0	0	0	0	0	81	344
NFKBIZ	64332	broad.mit.edu	37	3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	109					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433																																						ENST00000326172.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(325-327)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							100.0	104.0	103.0					3																	101570965		2203	4300	6503	SO:0001583	missense	64332	0	0					g.chr3:101570965G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.326G>A	chr3.hg19:g.101570965G>A	ENSP00000325663:p.Gly109Asp	0					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D	p.G109D	NM_031419.3	NP_113607.1	1	2	3	1.998468	Q9BYH8	IKBZ_HUMAN		2	441	+			B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	1	1	hg19	c.326G>A	CCDS2946.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066465	0.76187	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;D;T	0.83163	-1.34;-1.39;-1.69;-1.39	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87581	0.6213	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.88539	0.3108	10	0.66056	D	0.02	-22.1952	19.0279	0.92941	0.0:0.0:1.0:0.0	.	109;109	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	D	109;9;9;109;109;9	ENSP00000419800:G9D;ENSP00000377618:G9D;ENSP00000325593:G109D;ENSP00000325663:G109D	ENSP00000325593:G109D	G	+	2	0	0	NFKBIZ	103053655	103053655	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.314000	0.78988	2.584000	0.87258	0.563000	0.77884	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_031419			130	128		503	494	1		1	0		0	0	117	0		1	6.400129e-01	0	0	0	10	0	130	503
CBLB	868	broad.mit.edu	37	3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	58	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCACAGTCTTACCTAAAA	0.274			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		3	3q13.11	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b				L	L			AML		0				49						c.(172-174)aGa>aAa		Cbl proto-oncogene B, E3 ubiquitin protein ligase							44.0	42.0	43.0					3																	105572504		2201	4297	6498	SO:0001583	missense	868	0	0					g.chr3:105572504C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.173G>A	chr3.hg19:g.105572504C>T	ENSP00000264122:p.Arg58Lys	0					CBLB_ENST00000394027.3_Missense_Mutation_p.R80K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K	p.R58K	NM_170662.3	NP_733762.2	1	2	3	1.998468	Q13191	CBLB_HUMAN		3	494	-			A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	1	1	hg19	c.173G>A	CCDS2948.1	1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432187	0.43122	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.83	5.83	0.93111	5.83	5.83	0.93111	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	N	0.04355	-0.22	0.80722	D	1	P;P;B	0.49696	0.927;0.911;0.044	D;D;B	0.67725	0.953;0.921;0.161	T	0.81371	-0.0963	10	0.87932	D	0	-20.2561	20.126	0.97982	0.0:1.0:0.0:0.0	.	80;58;58	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	58;80;58;58;80;80;58;58	ENSP00000264122:R58K;ENSP00000377595:R80K;ENSP00000384816:R58K;ENSP00000384938:R58K;ENSP00000446116:R80K;ENSP00000409750:R80K;ENSP00000400949:R58K;ENSP00000393906:R58K	ENSP00000264122:R58K	R	-	2	0	0	CBLB	107055194	107055194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.272000	0.78516	2.749000	0.94314	0.655000	0.94253	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_170662			44	44		169	166	1		1	1		0	0	38	0		1	9.999988e-01	0	13	0	71	0	44	169
IFT57	55081	broad.mit.edu	37	3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368																																						ENST00000264538.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(961-963)gCt>gTt		intraflagellar transport 57							129.0	122.0	125.0					3																	107885720		2203	4300	6503	SO:0001583	missense	55081	0	0					g.chr3:107885720G>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.962C>T	chr3.hg19:g.107885720G>A	ENSP00000264538:p.Ala321Val	0					IFT57_ENST00000468021.1_5'UTR	p.A321V	NM_018010.3	NP_060480.1	1	2	3	1.998468	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)	8	1209	-			Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	1	1	hg19	c.962C>T	CCDS2951.1	1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185475	0.09495	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.48	4.59	0.56863	5.48	4.59	0.56863	.	0.152367	0.64402	D	0.000019	T	0.42108	0.1188	N	0.25426	0.745	0.50171	D	0.999854	B	0.15930	0.015	B	0.18561	0.022	T	0.24835	-1.0149	9	0.30854	T	0.27	.	10.3105	0.43706	0.1468:0.0:0.8532:0.0	.	321	Q9NWB7	IFT57_HUMAN	V	321	.	ENSP00000264538:A321V	A	-	2	0	0	IFT57	109368410	109368410	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	4.848000	0.62874	2.735000	0.93741	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_018010			46	44		183	181	1		1	1		0	0	46	0		1	1	0	63	0	199	0	46	183
MYH15	22989	broad.mit.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507																																						ENST00000273353.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998647	0.990000	1.000000																										0				105						c.(4099-4101)gCt>gAt		myosin, heavy chain 15							156.0	151.0	153.0					3																	108133184		2071	4208	6279	SO:0001583	missense	22989	0	0					g.chr3:108133184G>T	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.4100C>A	chr3.hg19:g.108133184G>T	ENSP00000273353:p.Ala1367Asp	0						p.A1367D	NM_014981.1	NP_055796.1	1	2	3	1.998468	Q9Y2K3	MYH15_HUMAN		31	4156	-				Missense_Mutation	SNP	ENST00000273353.3	1	1	hg19	c.4100C>A	CCDS43127.1	1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	0	MYH15	109615874	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-14.594460	1	0.170000	XM_036988			33	32		242	239	1		1	0		0	0	43	0		1	7.755868e-02	0	1	0	3	0	33	242
MYH15	22989	broad.mit.edu	37	3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A	rs202208116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413																																						ENST00000273353.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(1777-1779)Cat>Tat		myosin, heavy chain 15							157.0	153.0	154.0					3																	108183499		1863	4101	5964	SO:0001583	missense	22989	0	0					g.chr3:108183499G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1777C>T	chr3.hg19:g.108183499G>A	ENSP00000273353:p.His593Tyr	0					MYH15_ENST00000495753.2_5'Flank	p.H593Y	NM_014981.1	NP_055796.1	1	2	3	1.998468	Q9Y2K3	MYH15_HUMAN		16	1833	-				Missense_Mutation	SNP	ENST00000273353.3	1	1	hg19	c.1777C>T	CCDS43127.1	1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829857	0.71258	.	.	ENSG00000144821	ENST00000273353	D	0.97066	-4.23	5.53	4.66	0.58398	5.53	4.66	0.58398	Myosin head, motor domain (2);	.	.	.	.	D	0.99354	0.9773	H	0.99981	5.2	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.97639	1.0147	9	0.87932	D	0	.	14.1231	0.65203	0.0722:0.0:0.9278:0.0	.	593	Q9Y2K3	MYH15_HUMAN	Y	593	ENSP00000273353:H593Y	ENSP00000273353:H593Y	H	-	1	0	0	MYH15	109666189	109666189	1.000000	0.71417	0.326000	0.25389	0.809000	0.45718	7.441000	0.80485	1.344000	0.45657	0.655000	0.94253	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000	XM_036988			145	144		648	640	1		1			0	0	189	0		1	0	0	0	0	0	0	145	648
MYH15	22989	broad.mit.edu	37	3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	252	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348																																						ENST00000273353.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998312	0.990000	1.000000																										0				105						c.(754-756)gAc>gGc		myosin, heavy chain 15							128.0	115.0	119.0					3																	108214643		1862	4090	5952	SO:0001583	missense	22989	0	0					g.chr3:108214643T>C	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.755A>G	chr3.hg19:g.108214643T>C	ENSP00000273353:p.Asp252Gly	0						p.D252G	NM_014981.1	NP_055796.1	1	2	3	1.998468	Q9Y2K3	MYH15_HUMAN		8	811	-				Missense_Mutation	SNP	ENST00000273353.3	1	1	hg19	c.755A>G	CCDS43127.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408928	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	5.03	5.03	0.67393	5.03	5.03	0.67393	Myosin head, motor domain (3);	.	.	.	.	D	0.97090	0.9049	H	0.99368	4.535	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.98720	1.0708	9	0.87932	D	0	.	14.7471	0.69496	0.0:0.0:0.0:1.0	.	252	Q9Y2K3	MYH15_HUMAN	G	252	ENSP00000273353:D252G	ENSP00000273353:D252G	D	-	2	0	0	MYH15	109697333	109697333	1.000000	0.71417	0.717000	0.30585	0.983000	0.72400	3.912000	0.56386	2.027000	0.59764	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	XM_036988			17	17		102	101	1		1	0		0	0	25	0		9.999761e-01	0	0	0	0	1	0	17	102
MYH15	22989	broad.mit.edu	37	3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	236	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383																																						ENST00000273353.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				105						c.(706-708)gCg>gTg		myosin, heavy chain 15							115.0	102.0	106.0					3																	108214691		1861	4095	5956	SO:0001583	missense	22989	3	120806	29				g.chr3:108214691G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.707C>T	chr3.hg19:g.108214691G>A	ENSP00000273353:p.Ala236Val	0						p.A236V	NM_014981.1	NP_055796.1	1	2	3	1.998468	Q9Y2K3	MYH15_HUMAN		8	763	-				Missense_Mutation	SNP	ENST00000273353.3	1	1	hg19	c.707C>T	CCDS43127.1	1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093275	0.20471	.	.	ENSG00000144821	ENST00000273353	T	0.73047	-0.71	4.84	-1.61	0.08399	4.84	-1.61	0.08399	Myosin head, motor domain (2);	.	.	.	.	T	0.66557	0.2801	M	0.74881	2.28	0.28598	N	0.909315	B	0.27192	0.171	B	0.24541	0.054	T	0.60747	-0.7202	9	0.52906	T	0.07	.	10.1362	0.42708	0.4652:0.0:0.5348:0.0	.	236	Q9Y2K3	MYH15_HUMAN	V	236	ENSP00000273353:A236V	ENSP00000273353:A236V	A	-	2	0	0	MYH15	109697381	109697381	0.649000	0.27322	0.002000	0.10522	0.060000	0.15804	2.968000	0.49224	-0.219000	0.10003	-1.099000	0.02127	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-19.332150	1	0.170000	XM_036988			24	24		70	67	1		1			0	0	32	0		9.999999e-01	0	0	0	0	0	0	24	70
KIAA1524	57650	broad.mit.edu	37	3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	DZIP3_ENST00000361582.3_5'Flank|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	6					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)				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						AGGACTTCAAGCAGGCAGTGG	0.602																																						ENST00000295746.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				38						c.(16-18)tgC>tgA		KIAA1524							44.0	37.0	40.0					3																	108308205		2203	4300	6503	SO:0001587	stop_gained	57650	0	0					g.chr3:108308205G>T	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.18C>A	chr3.hg19:g.108308205G>T	ENSP00000295746:p.Cys6*	0					KIAA1524_ENST00000487834.1_5'UTR|DZIP3_ENST00000361582.3_5'Flank	p.C6*	NM_020890.2	NP_065941.2	1	2	3	1.998468	Q8TCG1	CIP2A_HUMAN		1	94	-			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Nonsense_Mutation	SNP	ENST00000295746.8	0	1	hg19	c.18C>A	CCDS33812.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202310	0.79127	.	.	ENSG00000163507	ENST00000295746	.	.	.	5.14	3.34	0.38264	5.14	3.34	0.38264	.	0.161155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8924	9.5041	0.39035	0.2272:0.0:0.7728:0.0	.	.	.	.	X	6	.	ENSP00000295746:C6X	C	-	3	2	2	KIAA1524	109790895	109790895	0.956000	0.32656	1.000000	0.80357	0.359000	0.29487	0.586000	0.23894	1.531000	0.49152	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_020890			27	27		92	91	1		1	1		0	0	27	0		1	8.253344e-01	0	2	0	11	0	27	92
DZIP3	9666	broad.mit.edu	37	3	108335411	108335411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	94					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)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348																																						ENST00000361582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(280-282)caG>caA		DAZ interacting zinc finger protein 3							176.0	171.0	173.0					3																	108335411		2203	4300	6503	SO:0001819	synonymous_variant	9666	0	0					g.chr3:108335411G>A	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.282G>A	chr3.hg19:g.108335411G>A		0					DZIP3_ENST00000463306.1_Silent_p.Q94Q	p.Q94Q	NM_014648.3	NP_055463.1	1	2	3	1.998468	Q86Y13	DZIP3_HUMAN		5	512	+			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	1	1	hg19	c.282G>A	CCDS2952.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_014648			76	74		350	345	1		1	1		0	0	96	0		1	9.076736e-01	0	8	0	13	0	76	350
DZIP3	9666	broad.mit.edu	37	3	108363438	108363438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	ENST00000361582.3	+	14	1799	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_ENST00000463306.1_Silent_p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	523					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)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCTCACTGAGTCACAGTTCA	0.408																																						ENST00000361582.3	1.000000	0.230000	5.200000e-01	3.000000e-01	0.390000	0.436632	0.390000	0.390000																										0				45						c.(1567-1569)gaG>gaA		DAZ interacting zinc finger protein 3							125.0	127.0	126.0					3																	108363438		2203	4300	6503	SO:0001819	synonymous_variant	9666	0	0					g.chr3:108363438G>A	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.1569G>A	chr3.hg19:g.108363438G>A		0					DZIP3_ENST00000463306.1_Silent_p.E523E	p.E523E	NM_014648.3	NP_055463.1	1	2	3	1.998468	Q86Y13	DZIP3_HUMAN		14	1799	+			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	1	1	hg19	c.1569G>A	CCDS2952.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.821728	1	0.170000	NM_014648			16	16		476	464	0		1	0		0	0	98	0		9.999206e-01	1.763752e-01	0	1	0	21	0	16	476
DZIP3	9666	broad.mit.edu	37	3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	632					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)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348																																						ENST00000361582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1894-1896)gaA>gaC		DAZ interacting zinc finger protein 3							103.0	110.0	108.0					3																	108366893		2203	4299	6502	SO:0001583	missense	9666	0	0					g.chr3:108366893A>C	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.1896A>C	chr3.hg19:g.108366893A>C	ENSP00000355028:p.Glu632Asp	0					DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	p.E632D	NM_014648.3	NP_055463.1	1	2	3	1.998468	Q86Y13	DZIP3_HUMAN		16	2126	+			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	1	1	hg19	c.1896A>C	CCDS2952.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380981	0.61845	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33216	1.42;1.42;1.42	5.09	3.89	0.44902	5.09	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.42787	0.1218	L	0.47716	1.5	0.29496	N	0.855292	D;D;D	0.67145	0.984;0.996;0.993	D;D;D	0.75484	0.956;0.986;0.967	T	0.27806	-1.0063	10	0.36615	T	0.2	-17.6589	7.8465	0.29428	0.9054:0.0:0.0946:0.0	.	250;632;632	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	632	ENSP00000355028:E632D;ENSP00000418115:E632D;ENSP00000419981:E632D	ENSP00000355028:E632D	E	+	3	2	2	DZIP3	109849583	109849583	0.999000	0.42202	1.000000	0.80357	0.721000	0.41392	0.708000	0.25719	0.919000	0.36945	0.524000	0.50904	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_014648			96	95		413	405	1		1	1		0	0	100	0		1	9.987591e-01	0	17	0	28	0	96	413
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000361582.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995285	0.990000	1.000000																										1	Substitution - Missense(1)	p.G802E(1)	large_intestine(1)	45						c.(2404-2406)gGa>gAa		DAZ interacting zinc finger protein 3							50.0	51.0	50.0					3																	108381086		2202	4300	6502	SO:0001583	missense	9666	0	0					g.chr3:108381086G>A	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	chr3.hg19:g.108381086G>A	ENSP00000355028:p.Gly802Glu	0					DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	p.G802E	NM_014648.3	NP_055463.1	1	2	3	1.998468	Q86Y13	DZIP3_HUMAN		21	2635	+			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	1	1	hg19	c.2405G>A	CCDS2952.1	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	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	0	DZIP3	109863776	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	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.999990	1	0.170000	NM_014648			16	16		108	107	1		1	1		0	0	23	0		9.999507e-01	9.658616e-01	0	10	0	31	0	16	108
RETNLB	84666	broad.mit.edu	37	3	108474713	108474713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474713C>T	ENST00000295755.6	-	3	446	c.248G>A	c.(247-249)gGt>gAt	p.G83D	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	83					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCCCACGAACCACAGCCATA	0.577																																						ENST00000295755.6	1.000000	0.150000	4.300000e-01	2.100000e-01	0.300000	0.351396	0.300000	0.290000																										0				16						c.(247-249)gGt>gAt		resistin like beta							86.0	80.0	82.0					3																	108474713		2203	4300	6503	SO:0001583	missense	84666	0	0					g.chr3:108474713C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.248G>A	chr3.hg19:g.108474713C>T	ENSP00000295755:p.Gly83Asp	0					RETNLB_ENST00000482939.1_Intron	p.G83D	NM_032579.2	NP_115968.1	1	2	3	1.998468	Q9BQ08	RETNB_HUMAN		3	446	-			Q14D27	Missense_Mutation	SNP	ENST00000295755.6	0	1	hg19	c.248G>A	CCDS2953.1	0	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177731	0.57692	.	.	ENSG00000163515	ENST00000295755	T	0.69561	-0.41	4.14	4.14	0.48551	4.14	4.14	0.48551	.	0.000000	0.47455	D	0.000233	T	0.80470	0.4629	M	0.76170	2.325	0.41702	D	0.989409	D	0.89917	1.0	D	0.97110	1.0	D	0.83644	0.0152	10	0.87932	D	0	-12.9978	13.9194	0.63921	0.0:1.0:0.0:0.0	.	83	Q9BQ08	RETNB_HUMAN	D	83	ENSP00000295755:G83D	ENSP00000295755:G83D	G	-	2	0	0	RETNLB	109957403	109957403	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	3.772000	0.55325	2.128000	0.65567	0.655000	0.94253	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1	0	0	0		2	2	2	0		0	0	92		92	90	1	2.060000	-9.836571	1	0.170000				10	10		399	391	0		1	1		0	0	92	0		9.966423e-01	7.316916e-03	0	2	0	3	0	10	399
RETNLB	84666	broad.mit.edu	37	3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547																																						ENST00000295755.6	1.000000	0.250000	6.300000e-01	3.400000e-01	0.460000	0.500449	0.460000	0.440000																										0				16						c.(211-213)Atg>Gtg		resistin like beta							92.0	86.0	88.0					3																	108474750		2203	4300	6503	SO:0001583	missense	84666	0	0					g.chr3:108474750T>C	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.211A>G	chr3.hg19:g.108474750T>C	ENSP00000295755:p.Met71Val	0					RETNLB_ENST00000482939.1_Intron	p.M71V	NM_032579.2	NP_115968.1	1	2	3	1.998468	Q9BQ08	RETNB_HUMAN		3	409	-			Q14D27	Missense_Mutation	SNP	ENST00000295755.6	1	1	hg19	c.211A>G	CCDS2953.1	0	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710092	0.15239	.	.	ENSG00000163515	ENST00000295755	T	0.41758	0.99	3.7	0.923	0.19413	3.7	0.923	0.19413	.	1.356200	0.05180	N	0.501095	T	0.37598	0.1009	L	0.43923	1.385	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.40156	-0.9578	10	0.52906	T	0.07	-1.0885	7.1581	0.25649	0.3937:0.0:0.0:0.6063	.	71	Q9BQ08	RETNB_HUMAN	V	71	ENSP00000295755:M71V	ENSP00000295755:M71V	M	-	1	0	0	RETNLB	109957440	109957440	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.404000	0.20999	0.475000	0.27415	0.459000	0.35465	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1	0	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-13.898380	1	0.170000				13	13		332	327	0		1	0		0	0	92	0		9.995121e-01	9.808066e-03	0	1	0	3	0	13	332
GUCA1C	9626	broad.mit.edu	37	3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N|GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	143	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|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)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.D143Y(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418																																					NSCLC(157;1360 1999 30631 40189 44208)	ENST00000261047.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D143Y(1)	lung(1)	14						c.(427-429)Gat>Aat		guanylate cyclase activator 1C							169.0	163.0	165.0					3																	108634989		2203	4300	6503	SO:0001583	missense	9626	0	0					g.chr3:108634989C>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.427G>A	chr3.hg19:g.108634989C>T	ENSP00000261047:p.Asp143Asn	0					GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N	p.D143N	NM_005459.3	NP_005450.3	1	2	3	1.998468	O95843	GUC1C_HUMAN		3	559	-			O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	1	1	hg19	c.427G>A	CCDS2954.1	1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179294	0.57800	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	D;D;D	0.90955	-2.76;-2.76;-2.76	4.32	0.218	0.15270	4.32	0.218	0.15270	EF-hand-like domain (1);	0.272597	0.40385	N	0.001114	D	0.95705	0.8603	H	0.97158	3.95	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.811	D	0.88836	0.3309	10	0.87932	D	0	.	5.8719	0.18809	0.0:0.5256:0.2963:0.1781	.	143;143	C9JNI2;O95843	.;GUC1C_HUMAN	N	143	ENSP00000377535:D143N;ENSP00000261047:D143N;ENSP00000417761:D143N	ENSP00000261047:D143N	D	-	1	0	0	GUCA1C	110117679	110117679	0.668000	0.27493	0.000000	0.03702	0.792000	0.44763	1.525000	0.35953	-0.203000	0.10251	0.651000	0.88453	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_005459			86	84		404	400	1		1	0		0	0	113	0		1	0	0	0	0	1	0	86	404
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000483760.1	-	22	2301	c.2258A>G	c.(2257-2259)aAa>aGa	p.K753R	MORC1_ENST00000232603.5_Missense_Mutation_p.K774R					MORC family CW-type zinc finger 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						CACTCACCTTTTCCAGCTAGG	0.338																																						ENST00000483760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(2257-2259)aAa>aGa		MORC family CW-type zinc finger 1							99.0	88.0	92.0					3																	108703566		2203	4298	6501	SO:0001583	missense	27136	0	0					g.chr3:108703566T>C	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.2258A>G	chr3.hg19:g.108703566T>C	ENSP00000417282:p.Lys753Arg	0					MORC1_ENST00000232603.5_Missense_Mutation_p.K774R	p.K753R			1	2	3	1.998468				22	2301	-				Missense_Mutation	SNP	ENST00000483760.1	1	1	hg19	c.2258A>G		1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174800	0.38413	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07688	3.21;3.17	5.49	4.35	0.52113	5.49	4.35	0.52113	.	2.220440	0.01806	N	0.033169	T	0.08582	0.0213	N	0.24115	0.695	0.21967	N	0.999446	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.46703	T	0.11	.	7.8604	0.29506	0.0:0.0906:0.0:0.9094	.	753;774	E7ERX1;Q86VD1	.;MORC1_HUMAN	R	774;753	ENSP00000232603:K774R;ENSP00000417282:K753R	ENSP00000232603:K774R	K	-	2	0	0	MORC1	110186256	110186256	0.922000	0.31269	0.817000	0.32601	0.753000	0.42808	1.323000	0.33701	1.116000	0.41820	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000				43	42		143	143	1		1			0	0	27	0		1	0	0	0	0	0	0	43	143
MORC1	27136	broad.mit.edu	37	3	108724083	108724083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108724083G>A	ENST00000483760.1	-	18	1827	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	MORC1_ENST00000232603.5_Missense_Mutation_p.A616V					MORC family CW-type zinc finger 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						TCTACGGCTCGCTGAAAGCTC	0.363																																						ENST00000483760.1	1.000000	0.330000	7.500000e-01	4.300000e-01	0.570000	0.600905	0.570000	0.540000																										0				105						c.(1783-1785)gCg>gTg		MORC family CW-type zinc finger 1							55.0	56.0	55.0					3																	108724083		2203	4299	6502	SO:0001583	missense	27136	0	0					g.chr3:108724083G>A	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.1784C>T	chr3.hg19:g.108724083G>A	ENSP00000417282:p.Ala595Val	0					MORC1_ENST00000232603.5_Missense_Mutation_p.A616V	p.A595V			1	2	3	1.998468				18	1827	-				Missense_Mutation	SNP	ENST00000483760.1	1	0	hg19	c.1784C>T		0	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196536	0.01594	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.46;3.41	4.36	-0.911	0.10507	4.36	-0.911	0.10507	.	1.681880	0.03430	N	0.207656	T	0.02119	0.0066	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39761	-0.9598	10	0.09843	T	0.71	2.5591	3.2697	0.06878	0.5113:0.0:0.2992:0.1894	.	595;616	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	616;595	ENSP00000232603:A616V;ENSP00000417282:A595V	ENSP00000232603:A616V	A	-	2	0	0	MORC1	110206773	110206773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.416000	0.21198	-0.141000	0.11374	-0.295000	0.09555	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-1.594721	0	0.170000				15	14		306	306	0		1			0	0	42	0		9.998783e-01	0	0	0	0	0	0	15	306
MORC1	27136	broad.mit.edu	37	3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000483760.1	-	12	1021	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H					MORC family CW-type zinc finger 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						CCAAAGCTCTCTGTAATACAT	0.353																																						ENST00000483760.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998826	0.990000	1.000000																										0				105						c.(976-978)caG>caT		MORC family CW-type zinc finger 1							137.0	120.0	126.0					3																	108778706		2203	4300	6503	SO:0001583	missense	27136	0	0					g.chr3:108778706C>A	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.978G>T	chr3.hg19:g.108778706C>A	ENSP00000417282:p.Gln326His	0					MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H	p.Q326H			1	2	3	1.998468				12	1021	-				Missense_Mutation	SNP	ENST00000483760.1	1	1	hg19	c.978G>T		1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.673784	0.29693	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	1.29	0.21616	5.02	1.29	0.21616	.	0.730120	0.11841	N	0.524317	T	0.15132	0.0365	M	0.63428	1.95	0.27887	N	0.93948	D;D	0.67145	0.996;0.99	P;P	0.58820	0.846;0.827	T	0.10359	-1.0633	10	0.45353	T	0.12	0.2174	7.7351	0.28810	0.0:0.6924:0.0:0.3076	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	326	ENSP00000232603:Q326H;ENSP00000417282:Q326H	ENSP00000232603:Q326H	Q	-	3	2	2	MORC1	110261396	110261396	1.000000	0.71417	0.573000	0.28510	0.944000	0.59088	1.231000	0.32624	0.053000	0.16036	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.222913	1	0.170000				28	28		194	188	1		1			0	0	56	0		1	0	0	0	0	0	0	28	194
MORC1	27136	broad.mit.edu	37	3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000483760.1	-	6	411	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000232603.5_Missense_Mutation_p.T123M|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 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						ACAGGTCATCGTTTCTTCCTT	0.343																																						ENST00000483760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(367-369)aCg>aTg		MORC family CW-type zinc finger 1							124.0	124.0	124.0					3																	108818260		2201	4299	6500	SO:0001583	missense	27136	1	121404	19				g.chr3:108818260G>A	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.368C>T	chr3.hg19:g.108818260G>A	ENSP00000417282:p.Thr123Met	0					MORC1_ENST00000232603.5_Missense_Mutation_p.T123M|MORC1-AS1_ENST00000480826.1_RNA	p.T123M			1	2	3	1.998468				6	411	-				Missense_Mutation	SNP	ENST00000483760.1	1	1	hg19	c.368C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161618	0.57368	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95001	-3.58;-3.58	4.78	4.78	0.61160	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.96917	0.8993	M	0.78916	2.43	0.29482	N	0.856305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93587	0.6918	10	0.66056	D	0.02	-13.7836	15.6854	0.77405	0.0:0.0:1.0:0.0	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	123	ENSP00000232603:T123M;ENSP00000417282:T123M	ENSP00000232603:T123M	T	-	2	0	0	MORC1	110300950	110300950	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	4.018000	0.57174	2.643000	0.89663	0.555000	0.69702	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-19.999630	1	0.170000				41	39		190	187	1		1			0	0	59	0		1	0	0	0	0	0	0	41	190
SLC6A11	6538	broad.mit.edu	37	3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	314					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|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 binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGCCATTTGCCTGGGCTGTCT	0.493																																						ENST00000254488.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(940-942)Ctg>Atg		solute carrier family 6 (neurotransmitter transporter), member 11	Clobazam(DB00349)						182.0	179.0	180.0					3																	10953823		2203	4300	6503	SO:0001583	missense	6538	0	0					g.chr3:10953823C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.940C>A	chr3.hg19:g.10953823C>A	ENSP00000254488:p.Leu314Met	0						p.L314M	NM_014229.1	NP_055044.1	1	2	3	1.998468	P48066	S6A11_HUMAN		7	1006	+			B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	1	1	hg19	c.940C>A	CCDS2602.1	1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000132164	ENST00000254488	T	0.76839	-1.05	4.78	3.89	0.44902	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.81721	0.4882	M	0.73372	2.23	0.80722	D	1	P	0.43701	0.815	P	0.50537	0.643	D	0.84237	0.0470	10	0.72032	D	0.01	.	12.3503	0.55144	0.0:0.9177:0.0:0.0822	.	314	P48066	S6A11_HUMAN	M	314	ENSP00000254488:L314M	ENSP00000254488:L314M	L	+	1	2	2	SLC6A11	10928823	10928823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	2.189000	0.69895	0.462000	0.41574	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-20.000000	1	0.170000	NM_014229			143	139		650	637	1		1			0	0	134	0		1	0	0	0	0	0	0	143	650
SLC6A11	6538	broad.mit.edu	37	3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T	rs527421623		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|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 binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGGTTACCGGCGGGAGCTGCT	0.552																																						ENST00000254488.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1306-1308)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11	Clobazam(DB00349)						206.0	199.0	201.0					3																	10970960		2203	4300	6503	SO:0001583	missense	6538	1	121412	35				g.chr3:10970960C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1306C>T	chr3.hg19:g.10970960C>T	ENSP00000254488:p.Arg436Trp	0						p.R436W	NM_014229.1	NP_055044.1	1	2	3	1.998468	P48066	S6A11_HUMAN		10	1372	+			B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	1	1	hg19	c.1306C>T	CCDS2602.1	1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772455	0.69992	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	5.12	4.21	0.49690	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.87932	D	0	.	13.2142	0.59849	0.3593:0.6407:0.0:0.0	.	436	P48066	S6A11_HUMAN	W	436	ENSP00000254488:R436W	ENSP00000254488:R436W	R	+	1	2	2	SLC6A11	10945960	10945960	0.203000	0.23435	1.000000	0.80357	0.995000	0.86356	0.322000	0.19576	2.376000	0.81061	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1		2	2	2	0		0	0	214		214	197	1	2.060000	-2.523205	1	0.170000	NM_014229			211	205		827	758	1		1	0		0	0	214	0		1	0	0	0	0	1	0	211	827
SLC6A11	6538	broad.mit.edu	37	3	10974869	10974869	+	Silent	SNP	C	C	A	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	468					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|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 binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTTTGACTCCTATGCCGCCA	0.592																																						ENST00000254488.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1402-1404)tcC>tcA		solute carrier family 6 (neurotransmitter transporter), member 11	Clobazam(DB00349)						226.0	182.0	197.0					3																	10974869		2203	4300	6503	SO:0001819	synonymous_variant	6538	0	0					g.chr3:10974869C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1404C>A	chr3.hg19:g.10974869C>A		0						p.S468S	NM_014229.1	NP_055044.1	1	2	3	1.998468	P48066	S6A11_HUMAN		11	1470	+			B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	1	1	hg19	c.1404C>A	CCDS2602.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.882346	1	0.170000	NM_014229			92	91		486	475	1		1	0		0	0	77	0		1	2.585304e-02	0	1	0	1	0	92	486
SLC6A11	6538	broad.mit.edu	37	3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	531					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|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 binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTCATCTTCTTCTTGATCAAG	0.582																																						ENST00000254488.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1591-1593)tTc>tGc		solute carrier family 6 (neurotransmitter transporter), member 11	Clobazam(DB00349)						150.0	138.0	142.0					3																	10976731		2203	4300	6503	SO:0001583	missense	6538	0	0					g.chr3:10976731T>G	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1592T>G	chr3.hg19:g.10976731T>G	ENSP00000254488:p.Phe531Cys	0						p.F531C	NM_014229.1	NP_055044.1	1	2	3	1.998468	P48066	S6A11_HUMAN		13	1658	+			B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	1	1	hg19	c.1592T>G	CCDS2602.1	1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927541	0.52759	.	.	ENSG00000132164	ENST00000254488	T	0.74526	-0.85	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.184815	0.47093	D	0.000249	T	0.72653	0.3487	L	0.29908	0.895	0.80722	D	1	B	0.33266	0.404	P	0.49637	0.617	T	0.74127	-0.3765	10	0.66056	D	0.02	.	8.2501	0.31712	0.0:0.09:0.0:0.91	.	531	P48066	S6A11_HUMAN	C	531	ENSP00000254488:F531C	ENSP00000254488:F531C	F	+	2	0	0	SLC6A11	10951731	10951731	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.595000	0.36708	1.840000	0.53500	0.533000	0.62120	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_014229			120	120		533	522	1		1	1		0	0	144	0		1	3.073064e-01	0	2	0	4	0	120	533
SLC6A1	6529	broad.mit.edu	37	3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	329					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)			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)	ATCAATTCGTGCACCAGCATG	0.577																																						ENST00000287766.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(985-987)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 1	Clobazam(DB00349)|Tiagabine(DB00906)						195.0	168.0	177.0					3																	11067953		2203	4300	6503	SO:0001583	missense	6529	0	0					g.chr3:11067953G>A		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.986G>A	chr3.hg19:g.11067953G>A	ENSP00000287766:p.Cys329Tyr	0					SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	p.C329Y	NM_003042.3	NP_003033.3	1	2	3	1.998468	P30531	SC6A1_HUMAN		10	1407	+		Ovarian(110;0.0392)	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	1	1	hg19	c.986G>A	CCDS2603.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381368	0.61845	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	M	0.84948	2.725	0.47737	D	0.999504	P	0.45348	0.856	P	0.47470	0.548	D	0.84761	0.0762	10	0.72032	D	0.01	.	15.4803	0.75521	0.0:0.138:0.862:0.0	.	329	P30531	SC6A1_HUMAN	Y	329;151	ENSP00000287766:C329Y;ENSP00000445171:C151Y	ENSP00000287766:C329Y	C	+	2	0	0	SLC6A1	11042953	11042953	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.582000	0.46085	2.813000	0.96785	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_003042			136	130		568	551	1		1	0		0	0	139	0		1	4.065289e-01	0	0	0	7	0	136	568
DPPA2	151871	broad.mit.edu	37	3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463																																						ENST00000478945.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.K200K(1)	ovary(1)	32						c.(598-600)aaG>aaT		developmental pluripotency associated 2							112.0	102.0	105.0					3																	109026937		2203	4300	6503	SO:0001583	missense	151871	0	0					g.chr3:109026937C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.600G>T	chr3.hg19:g.109026937C>A	ENSP00000417710:p.Lys200Asn	0						p.K200N	NM_138815.3	NP_620170.3	1	2	3	1.998468	Q7Z7J5	DPPA2_HUMAN		6	846	-			Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	1	1	hg19	c.600G>T	CCDS2956.1	1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502876	0.44558	.	.	ENSG00000163530	ENST00000478945	T	0.58358	0.34	4.43	2.29	0.28610	4.43	2.29	0.28610	.	0.205916	0.34460	N	0.003947	T	0.58278	0.2111	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.47586	-0.9106	10	0.66056	D	0.02	-10.1475	4.4885	0.11801	0.0:0.6333:0.2128:0.1539	.	200	Q7Z7J5	DPPA2_HUMAN	N	200	ENSP00000417710:K200N	ENSP00000417710:K200N	K	-	3	2	2	DPPA2	110509627	110509627	0.000000	0.05858	0.013000	0.15412	0.163000	0.22366	0.097000	0.15168	0.589000	0.29677	0.555000	0.69702	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-3.390027	1	0.170000	NM_138815			64	62		264	261	1		1	0		0	0	56	0		1	3.927492e-02	0	1	0	1	0	64	264
PHLDB2	90102	broad.mit.edu	37	3	111603011	111603011	+	Silent	SNP	C	C	T	rs147548065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N|PHLDB2_ENST00000393925.3_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	29						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		19829	0.0		0.001	False		,,,				2504	0.0					ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(85-87)aaC>aaT		pleckstrin homology-like domain, family B, member 2							155.0	157.0	156.0					3																	111603011		2203	4300	6503	SO:0001819	synonymous_variant	90102	8	121412	45				g.chr3:111603011C>T		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.87C>T	chr3.hg19:g.111603011C>T		0					PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N	p.N29N	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		2	498	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	1	1	hg19	c.87C>T	CCDS46886.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	0		2	2	2	0		0	0	179		179	177	1	2.060000	-20.000000	1	0.170000	NM_145753			129	127		705	697	0		1	0		0	0	179	0		1	9.146015e-01	0	0	0	25	0	129	705
PHLDB2	90102	broad.mit.edu	37	3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	39						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433																																						ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(115-117)aGc>aAc		pleckstrin homology-like domain, family B, member 2							140.0	142.0	141.0					3																	111603040		2203	4300	6503	SO:0001583	missense	90102	0	0					g.chr3:111603040G>A		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.116G>A	chr3.hg19:g.111603040G>A	ENSP00000405405:p.Ser39Asn	0					PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N	p.S39N	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		2	527	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	1	1	hg19	c.116G>A	CCDS46886.1	1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328165	0.10956	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.30182	1.54;1.54;1.56;1.56;1.54;1.56	5.87	4.06	0.47325	5.87	4.06	0.47325	.	0.327773	0.38058	N	0.001831	T	0.14399	0.0348	N	0.11560	0.145	0.24589	N	0.99384	B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.004;0.001;0.001	T	0.20773	-1.0265	10	0.16420	T	0.52	.	8.4181	0.32683	0.2311:0.0:0.7689:0.0	.	39;39;39;39;66	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	66;66;39;39;39;39;39;39;39	ENSP00000377500:S66N;ENSP00000405405:S39N;ENSP00000405292:S39N;ENSP00000418296:S39N;ENSP00000377502:S39N;ENSP00000418319:S39N	ENSP00000352764:S66N	S	+	2	0	0	PHLDB2	113085730	113085730	0.998000	0.40836	0.999000	0.59377	0.724000	0.41520	1.185000	0.32065	1.631000	0.50456	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	0		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000	NM_145753			127	124		663	653	1		1	0		0	0	154	0		1	9.577909e-01	0	1	0	28	0	127	663
PHLDB2	90102	broad.mit.edu	37	3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	77						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458																																						ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(229-231)aCc>aTc		pleckstrin homology-like domain, family B, member 2							148.0	160.0	156.0					3																	111603154		2203	4300	6503	SO:0001583	missense	90102	0	0					g.chr3:111603154C>T		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.230C>T	chr3.hg19:g.111603154C>T	ENSP00000405405:p.Thr77Ile	0					PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I	p.T77I	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		2	641	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	1	1	hg19	c.230C>T	CCDS46886.1	1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261057	0.23051	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.42;1.39;1.39;1.42;1.39	5.87	4.08	0.47627	5.87	4.08	0.47627	.	0.919733	0.09484	N	0.795949	T	0.34366	0.0895	N	0.22421	0.69	0.09310	N	1	B;B;P;B;P	0.49090	0.09;0.053;0.919;0.145;0.493	B;B;P;B;B	0.48704	0.069;0.032;0.587;0.146;0.146	T	0.17228	-1.0376	10	0.72032	D	0.01	.	9.8179	0.40865	0.0:0.7857:0.1395:0.0748	.	77;77;77;77;104	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	104;104;77;77;77;77;77;77;77	ENSP00000377500:T104I;ENSP00000405405:T77I;ENSP00000405292:T77I;ENSP00000418296:T77I;ENSP00000377502:T77I;ENSP00000418319:T77I	ENSP00000352764:T104I	T	+	2	0	0	PHLDB2	113085844	113085844	0.030000	0.19436	0.378000	0.26068	0.462000	0.32619	1.447000	0.35101	0.932000	0.37266	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	1		17	2	2	1		1	1	229		229	228	1	2.060000	-20.000000	1	0.170000	NM_145753			174	171		890	870	1		1	0		1	0	229	0		1	9.912506e-01	0	0	0	39	0	174	890
PHLDB2	90102	broad.mit.edu	37	3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	212						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512																																						ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(634-636)aGc>aAc		pleckstrin homology-like domain, family B, member 2							61.0	62.0	62.0					3																	111603559		2203	4300	6503	SO:0001583	missense	90102	0	0					g.chr3:111603559G>A		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.635G>A	chr3.hg19:g.111603559G>A	ENSP00000405405:p.Ser212Asn	0					PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N	p.S212N	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		2	1046	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	1	1	hg19	c.635G>A	CCDS46886.1	1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721857	0.03182	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.52;1.53;1.53;1.49;1.53;1.53	5.61	-1.59	0.08453	5.61	-1.59	0.08453	.	0.612468	0.19263	N	0.118609	T	0.04770	0.0129	N	0.00436	-1.5	0.09310	N	0.999999	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;0.001;0.002;0.001;0.001	T	0.34104	-0.9842	10	0.06099	T	0.92	.	1.8583	0.03184	0.2687:0.158:0.417:0.1562	.	212;212;212;212;239	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	239;239;212;212;212;212;212;212;212	ENSP00000377500:S239N;ENSP00000405405:S212N;ENSP00000405292:S212N;ENSP00000418296:S212N;ENSP00000377502:S212N;ENSP00000418319:S212N	ENSP00000352764:S239N	S	+	2	0	0	PHLDB2	113086249	113086249	0.853000	0.29707	0.375000	0.26029	0.952000	0.60782	1.298000	0.33412	-0.076000	0.12775	-0.345000	0.07892	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	1		2	2	2	0		0	0	77		77	74	1	2.060000	-20.000000	1	0.170000	NM_145753			81	79		284	276	1		1	0		0	0	77	0		1	9.958155e-01	0	1	0	31	0	81	284
PHLDB2	90102	broad.mit.edu	37	3	111639200	111639200	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000431670.2	+	5	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000495180.1_Silent_p.E231E|PHLDB2_ENST00000412622.1_Silent_p.E645E|PHLDB2_ENST00000393925.3_Silent_p.E645E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	645						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353																																						ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1933-1935)gaG>gaA		pleckstrin homology-like domain, family B, member 2							117.0	121.0	120.0					3																	111639200		2203	4300	6503	SO:0001819	synonymous_variant	90102	0	0					g.chr3:111639200G>A		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.1935G>A	chr3.hg19:g.111639200G>A		0					PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000495180.1_Silent_p.E231E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000412622.1_Silent_p.E645E	p.E645E	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		5	2346	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	1	1	hg19	c.1935G>A	CCDS46886.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_145753			62	62		338	331	1		1	1		0	0	52	0		1	9.972837e-01	0	2	0	49	0	62	338
PHLDB2	90102	broad.mit.edu	37	3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000431670.2	+	7	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	725						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428																																						ENST00000431670.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2173-2175)Ctg>Atg		pleckstrin homology-like domain, family B, member 2							124.0	118.0	120.0					3																	111658364		2203	4300	6503	SO:0001583	missense	90102	0	0					g.chr3:111658364C>A		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.2173C>A	chr3.hg19:g.111658364C>A	ENSP00000405405:p.Leu725Met	0					PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M	p.L725M	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		7	2584	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	1	1	hg19	c.2173C>A	CCDS46886.1	1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613049	0.66672	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60672	0.54;0.17;0.55;0.64;0.17;0.55;1.44	5.53	1.7	0.24286	5.53	1.7	0.24286	.	0.000000	0.64402	D	0.000007	T	0.67720	0.2923	M	0.64567	1.98	0.43430	D	0.995596	D;D;D;D	0.76494	0.989;0.998;0.999;0.984	P;D;D;D	0.68039	0.78;0.95;0.955;0.926	T	0.65705	-0.6103	10	0.62326	D	0.03	.	9.5472	0.39288	0.0:0.7006:0.0:0.2994	.	311;725;682;709	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	M	709;709;725;682;682;725;682;311	ENSP00000377500:L709M;ENSP00000405405:L725M;ENSP00000405292:L682M;ENSP00000418296:L682M;ENSP00000377502:L725M;ENSP00000418319:L682M;ENSP00000420303:L311M	ENSP00000352764:L709M	L	+	1	2	2	PHLDB2	113141054	113141054	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.150000	0.31639	0.090000	0.17273	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	0		2	2	2	0		0	0	92		92	91	1	2.060000	-2.790454	1	0.170000	NM_145753			85	84		377	370	1		1	1		0	0	92	0		1	9.837194e-01	0	3	0	28	0	85	377
PHLDB2	90102	broad.mit.edu	37	3	111693325	111693325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111693325T>C	ENST00000431670.2	+	18	4088	c.3677T>C	c.(3676-3678)aTg>aCg	p.M1226T	PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCTATTATATGGTAGCCCCA	0.398																																						ENST00000431670.2	1.000000	0.130000	3.700000e-01	1.800000e-01	0.260000	0.309846	0.260000	0.250000																										0				55						c.(3676-3678)aTg>aCg		pleckstrin homology-like domain, family B, member 2							105.0	108.0	107.0					3																	111693325		2203	4300	6503	SO:0001583	missense	90102	0	0					g.chr3:111693325T>C		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.3677T>C	chr3.hg19:g.111693325T>C	ENSP00000405405:p.Met1226Thr	0					PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T	p.M1226T	NM_001134438.1	NP_001127910.1	1	2	3	1.998468	Q86SQ0	PHLB2_HUMAN		18	4088	+			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	0	1	hg19	c.3677T>C	CCDS46886.1	0	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534413	0.45073	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	6.17	0.99709	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.036996	0.85682	D	0.000000	D	0.86900	0.6044	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.971;0.996;1.0;0.997	D;D;D;D;D	0.85130	0.985;0.926;0.965;0.997;0.991	D	0.88373	0.2996	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	338;717;1226;1183;1210	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	T	1210;1226;1183;1226;1183;717	ENSP00000377500:M1210T;ENSP00000405405:M1226T;ENSP00000405292:M1183T;ENSP00000377502:M1226T;ENSP00000418319:M1183T;ENSP00000420303:M717T	ENSP00000377500:M1210T	M	+	2	0	0	PHLDB2	113176015	113176015	1.000000	0.71417	0.990000	0.47175	0.016000	0.09150	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-9.008213	1	0.170000	NM_145753			10	10		467	452	0		1	0		0	0	90	0		9.964075e-01	2.598971e-01	0	0	0	43	0	10	467
TMPRSS7	344805	broad.mit.edu	37	3	111782371	111782371	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						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)			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						GTTGCCCATAGCCTGCCCTGT	0.413																																						ENST00000452346.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.e12-1		transmembrane protease, serine 7							217.0	199.0	205.0					3																	111782371		1898	4117	6015	SO:0001630	splice_region_variant	344805	0	0					g.chr3:111782371G>T	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.1448-1G>T	chr3.hg19:g.111782371G>T		0					TMPRSS7_ENST00000419127.1_Splice_Site				1	2	3	1.998468	Q7RTY8	TMPS7_HUMAN		12	1450	+			C9J8P7|E9PAS3|Q17RH4	Splice_Site	SNP	ENST00000452346.2	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030445	0.54790	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6344	0.85042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TMPRSS7	113265061	113265061	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	6.145000	0.71769	2.670000	0.90874	0.563000	0.77884	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	1	0	1		2	2	2	0		0	0	188		188	188	1	2.060000	-20.000000	1	0.170000	XM_293599	Intron		160	158		679	663	1		1			0	0	188	0		1	0	0	0	0	0	0	160	679
SLC35A5	55032	broad.mit.edu	37	3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	178					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.R178S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463																																						ENST00000492406.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R178S(1)	lung(1)	11						c.(532-534)Cgt>Tgt		solute carrier family 35, member A5		C	CYS/ARG	0,4406		0,0,2203	116.0	113.0	114.0		532	5.8	1.0	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35A5	NM_017945.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	178/425	112299496	1,13005	2203	4300	6503	SO:0001583	missense	55032	0	0					g.chr3:112299496C>T	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.532C>T	chr3.hg19:g.112299496C>T	ENSP00000417654:p.Arg178Cys	0					SLC35A5_ENST00000460713.1_3'UTR	p.R178C	NM_017945.2	NP_060415.1	1	2	3	1.998468	Q9BS91	S35A5_HUMAN		6	815	+			D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	1	1	hg19	c.532C>T	CCDS2967.1	1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289704	0.59976	0.0	1.16E-4	ENSG00000138459	ENST00000492406	T	0.47177	0.85	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.314260	0.39475	N	0.001341	T	0.33089	0.0851	N	0.08118	0	0.38054	D	0.935873	P	0.47762	0.9	B	0.43575	0.424	T	0.22034	-1.0228	9	.	.	.	-12.1866	18.1556	0.89689	0.0:1.0:0.0:0.0	.	178	Q9BS91	S35A5_HUMAN	C	178	ENSP00000417654:R178C	.	R	+	1	0	0	SLC35A5	113782186	113782186	0.997000	0.39634	1.000000	0.80357	0.539000	0.34962	3.555000	0.53727	2.724000	0.93272	0.585000	0.79938	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_017945			68	66		352	344	1		1	1		0	0	80	0		1	1	0	49	0	130	0	68	352
CCDC80	151887	broad.mit.edu	37	3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H|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	87					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)			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						CTCTGTTGGGCGAGCTAGTCT	0.602																																						ENST00000206423.3	1.000000	0.840000	1	9.600000e-01	0.990000	0.984415	0.990000	1.000000																										0				51						c.(259-261)cGc>cAc		coiled-coil domain containing 80							72.0	68.0	70.0					3																	112358493		2203	4300	6503	SO:0001583	missense	151887	0	0					g.chr3:112358493C>T	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.260G>A	chr3.hg19:g.112358493C>T	ENSP00000206423:p.Arg87His	0					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H	p.R87H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	1	2	3	1.998468	Q76M96	CCD80_HUMAN		2	1213	-			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	1	1	hg19	c.260G>A	CCDS2968.1	1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755273	0.15846	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44881	0.91;0.91	5.35	-5.15	0.02866	5.35	-5.15	0.02866	.	1.257190	0.05262	N	0.515973	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12016	-1.0564	10	0.15499	T	0.54	-0.0491	1.9051	0.03275	0.1164:0.2021:0.2475:0.434	.	98;87;87	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	87	ENSP00000206423:R87H;ENSP00000411814:R87H	ENSP00000206423:R87H	R	-	2	0	0	CCDC80	113841183	113841183	0.000000	0.05858	0.000000	0.03702	0.603000	0.37013	-1.306000	0.02735	-1.383000	0.02106	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-16.559010	1	0.170000	NM_199511			58	58		568	553	0		1	0		0	0	103	0		1	1	0	0	0	262	0	58	568
C3orf17	25871	broad.mit.edu	37	3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	309					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363																																						ENST00000314400.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(925-927)gAa>gCa		chromosome 3 open reading frame 17							81.0	78.0	79.0					3																	112729539		2203	4300	6503	SO:0001583	missense	25871	0	0					g.chr3:112729539T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.926A>C	chr3.hg19:g.112729539T>G	ENSP00000320251:p.Glu309Ala	0					C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A	p.E309A	NM_015412.3	NP_056227.2	1	2	3	1.998468	Q6NW34	CC017_HUMAN		7	1117	-			D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	1	1	hg19	c.926A>C	CCDS33824.1	1	.	.	.	.	.	.	.	.	.	.	T	8.710	0.911758	0.17907	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.18174	2.49;2.49;2.23	5.87	0.443	0.16587	5.87	0.443	0.16587	.	0.932998	0.09236	N	0.829848	T	0.12433	0.0302	L	0.60455	1.87	0.23657	N	0.997183	B;B;B;B	0.33171	0.004;0.017;0.228;0.4	B;B;B;B	0.30855	0.007;0.012;0.121;0.121	T	0.31971	-0.9924	10	0.16896	T	0.51	-9.1912	0.7962	0.01067	0.1596:0.2222:0.164:0.4543	.	198;106;239;309	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	309;239;173	ENSP00000320251:E309A;ENSP00000373173:E239A;ENSP00000377438:E173A	ENSP00000320251:E309A	E	-	2	0	0	C3orf17	114212229	114212229	0.998000	0.40836	0.997000	0.53966	0.915000	0.54546	0.216000	0.17585	0.463000	0.27118	0.533000	0.62120	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_015412			41	39		185	182	1		1	1		0	0	47	0		1	9.999989e-01	0	22	0	77	0	41	185
C3orf17	25871	broad.mit.edu	37	3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	72					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468																																						ENST00000314400.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(214-216)Aat>Cat		chromosome 3 open reading frame 17							149.0	129.0	136.0					3																	112736342		2203	4300	6503	SO:0001583	missense	25871	0	0					g.chr3:112736342T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.214A>C	chr3.hg19:g.112736342T>G	ENSP00000320251:p.Asn72His	0					C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_Intron	p.N72H	NM_015412.3	NP_056227.2	1	2	3	1.998468	Q6NW34	CC017_HUMAN		2	405	-			D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	1	1	hg19	c.214A>C	CCDS33824.1	1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585739	0.28268	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	T;T	0.47177	0.85;0.85	5.61	3.1	0.35709	5.61	3.1	0.35709	.	0.359775	0.32287	N	0.006308	T	0.36193	0.0958	L	0.54323	1.7	0.80722	D	1	P;B	0.35174	0.488;0.197	B;B	0.35240	0.198;0.058	T	0.07347	-1.0777	10	0.15066	T	0.55	-15.9227	6.1807	0.20470	0.1489:0.0:0.353:0.4982	.	72;72	Q6NW34-2;Q6NW34	.;CC017_HUMAN	H	72	ENSP00000320251:N72H;ENSP00000373173:N72H	ENSP00000320251:N72H	N	-	1	0	0	C3orf17	114219032	114219032	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.705000	0.37867	0.946000	0.37632	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_015412			84	82		326	325	1		1	1		0	0	65	0		1	9.998009e-01	0	11	0	40	0	84	326
C3orf17	25871	broad.mit.edu	37	3	112736400	112736400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|C3orf17_ENST00000383675.2_Silent_p.S52S|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	52					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418																																						ENST00000314400.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(154-156)tcG>tcA		chromosome 3 open reading frame 17							183.0	161.0	169.0					3																	112736400		2203	4300	6503	SO:0001819	synonymous_variant	25871	1	121412	33				g.chr3:112736400C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.156G>A	chr3.hg19:g.112736400C>T		0					C3orf17_ENST00000383675.2_Silent_p.S52S|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_Intron	p.S52S	NM_015412.3	NP_056227.2	1	2	3	1.998468	Q6NW34	CC017_HUMAN		2	347	-			D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	1	1	hg19	c.156G>A	CCDS33824.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	0		2	2	2	0		0	0	105		105	101	1	2.060000	-20.000000	1	0.170000	NM_015412			108	106		550	535	1		1	0		0	0	105	0		1	9.783774e-01	0	1	0	32	0	108	550
BOC	91653	broad.mit.edu	37	3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R450K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	450					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)				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)			GCGCTCCCCAGACCCCCAACG	0.667																																						ENST00000495514.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1348-1350)aGa>aAa		BOC cell adhesion associated, oncogene regulated							37.0	38.0	38.0					3																	112993336		2203	4300	6503	SO:0001583	missense	91653	0	0					g.chr3:112993336G>A	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.1349G>A	chr3.hg19:g.112993336G>A	ENSP00000418663:p.Arg450Lys	0					BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000355385.3_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR	p.R450K			1	2	3	1.998468	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)	9	2053	+			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	1	1	hg19	c.1349G>A	CCDS2971.1	1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246972	0.05867	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.38;0.38	5.08	1.1	0.20463	5.08	1.1	0.20463	.	0.391327	0.25747	N	0.028573	T	0.25938	0.0632	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.127	0.31005	0.519:0.0:0.481:0.0	.	450;450	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	450	ENSP00000418663:R450K;ENSP00000273395:R450K;ENSP00000347546:R450K	ENSP00000273395:R450K	R	+	2	0	0	BOC	114476026	114476026	0.914000	0.31030	0.000000	0.03702	0.014000	0.08584	0.500000	0.22562	0.132000	0.18615	0.563000	0.77884	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_033254			59	58		289	281	1		1	0		0	0	64	0		1	9.999151e-01	0	0	0	70	0	59	289
BOC	91653	broad.mit.edu	37	3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R611M			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	611	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)			GCTCCCGACAGGCCCACCATC	0.587																																						ENST00000495514.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				68						c.(1831-1833)aGg>aTg		BOC cell adhesion associated, oncogene regulated							72.0	60.0	64.0					3																	112998114		2203	4300	6503	SO:0001583	missense	91653	0	0					g.chr3:112998114G>T	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.1832G>T	chr3.hg19:g.112998114G>T	ENSP00000418663:p.Arg611Met	0					BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M|BOC_ENST00000497495.1_3'UTR	p.R611M			1	2	3	1.998468	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)	12	2536	+			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	1	1	hg19	c.1832G>T	CCDS2971.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116716	0.64402	D	0.000017	T	0.74764	0.3759	M	0.78285	2.405	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75473	-0.3305	10	0.51188	T	0.08	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	612;611	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	M	611;612;611	ENSP00000418663:R611M;ENSP00000273395:R612M;ENSP00000347546:R611M	ENSP00000273395:R612M	R	+	2	0	0	BOC	114480804	114480804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.240000	0.78192	2.596000	0.87737	0.563000	0.77884	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	1	0	1		2	2	2	0		0	0	63		63	60	1	2.060000	-20.000000	1	0.170000	NM_033254			40	38		243	237	1		1	0		0	0	63	0		1	9.994814e-01	0	0	0	72	0	40	243
CFAP44	55779	broad.mit.edu	37	3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000295868.2	-	14	1745	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000393845.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338																																						ENST00000295868.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1582-1584)gGa>gAa																																						SO:0001583	missense	0	0	0					g.chr3:113115561C>T																												ENST00000295868.2:c.1583G>A	chr3.hg19:g.113115561C>T	ENSP00000295868:p.Gly528Glu	0					WDR52_ENST00000393845.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	p.G528E	NM_018338.3	NP_060808.2	1	2	3	1.998468				14	1745	-				Missense_Mutation	SNP	ENST00000295868.2	1	1	hg19	c.1583G>A	CCDS2972.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582463	0.65992	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71934	-0.61;0.38	5.49	4.6	0.57074	5.49	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.81809	0.4901	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.84547	0.0642	9	0.87932	D	0	.	16.5094	0.84280	0.0:0.8692:0.1308:0.0	.	528	Q96MT7	WDR52_HUMAN	E	528	ENSP00000377428:G528E;ENSP00000295868:G528E	ENSP00000295868:G528E	G	-	2	0	0	WDR52	114598251	114598251	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	3.648000	0.54410	1.434000	0.47414	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.355917	1	0.170000				38	36		172	171	1		1	0		0	0	40	0		1	3.454690e-02	0	0	0	2	0	38	172
CFAP44	55779	broad.mit.edu	37	3	113120491	113120491	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000295868.2	-	10	1428	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52_ENST00000393845.2_Silent_p.N422N|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353																																						ENST00000295868.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1264-1266)aaT>aaC									120.0	119.0	120.0					3																	113120491		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr3:113120491A>G																												ENST00000295868.2:c.1266T>C	chr3.hg19:g.113120491A>G		0					WDR52_ENST00000393845.2_Silent_p.N422N|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	p.N422N	NM_018338.3	NP_060808.2	1	2	3	1.998468				10	1428	-				Silent	SNP	ENST00000295868.2	1	1	hg19	c.1266T>C	CCDS2972.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				40	39		175	171	1		1	0		0	0	44	0		1	9.490933e-02	0	0	0	3	0	40	175
KIAA2018	205717	broad.mit.edu	37	3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000478658.1	-	5	5941	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L			Q68DE3	K2018_HUMAN	KIAA2018	1975						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			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						TGATCTCTGGGGAACTGAAGA	0.493																																						ENST00000478658.1	1.000000	0.340000	1	5.100000e-01	0.730000	0.738359	0.730000	1.000000																										0				80						c.(5923-5925)cCc>cTc		KIAA2018							76.0	74.0	75.0					3																	113374605		2078	4214	6292	SO:0001583	missense	205717	0	0					g.chr3:113374605G>A	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.5924C>T	chr3.hg19:g.113374605G>A	ENSP00000420721:p.Pro1975Leu	0					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L	p.P1975L			1	2	3	1.998468	Q68DE3	K2018_HUMAN		5	5941	-			Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	1	1	hg19	c.5924C>T	CCDS43133.1	0	.	.	.	.	.	.	.	.	.	.	g	12.16	1.855688	0.32791	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12984	2.63;2.63	5.86	4.97	0.65823	5.86	4.97	0.65823	.	0.406622	0.27270	N	0.020135	T	0.09423	0.0232	N	0.08118	0	0.37637	D	0.921903	B	0.20887	0.049	B	0.16722	0.016	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8651	16.9128	0.86144	0.0:0.1281:0.8719:0.0	.	1975	Q68DE3	K2018_HUMAN	L	1975	ENSP00000320794:P1975L;ENSP00000420721:P1975L	ENSP00000320794:P1975L	P	-	2	0	0	KIAA2018	114857295	114857295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.066000	0.57520	1.443000	0.47586	0.558000	0.71614	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-4.716119	1	0.170000	NM_001009899			8	8		128	125	1		1	1		0	0	39	0		9.891033e-01	5.980156e-01	0	8	0	24	0	8	128
ATG7	10533	broad.mit.edu	37	3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	37					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453																																						ENST00000354449.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(109-111)Gag>Aag		autophagy related 7							196.0	183.0	188.0					3																	11340278		2203	4300	6503	SO:0001583	missense	10533	0	0					g.chr3:11340278G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.109G>A	chr3.hg19:g.11340278G>A	ENSP00000346437:p.Glu37Lys	0					ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K|ATG7_ENST00000469654.2_3'UTR	p.E37K	NM_006395.2	NP_006386.1	1	2	3	1.998468	O95352	ATG7_HUMAN		2	134	+			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	1	1	hg19	c.109G>A	CCDS2605.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161692	0.78226	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	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	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.055781	0.64402	D	0.000001	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	P;B;B	0.46952	0.887;0.373;0.162	B;B;B	0.34242	0.178;0.073;0.033	T	0.16247	-1.0409	10	0.07325	T	0.83	-30.8945	20.4745	0.99168	0.0:0.0:1.0:0.0	.	37;37;37	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	37	ENSP00000415223:E37K;ENSP00000390547:E37K;ENSP00000411880:E37K;ENSP00000389996:E37K;ENSP00000412580:E37K;ENSP00000347042:E37K;ENSP00000346437:E37K;ENSP00000408303:E37K;ENSP00000416644:E37K	ENSP00000346437:E37K	E	+	1	0	0	ATG7	11315278	11315278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	1	0	0		2	2	2	0		0	0	194		194	193	1	2.060000	-2.967565	1	0.170000	NM_006395			130	125		680	668	1		1	1		0	0	194	0		1	9.999984e-01	0	23	0	75	0	130	680
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428																																						ENST00000354449.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(142-144)aaG>aaT		autophagy related 7							167.0	158.0	161.0					3																	11340313		2203	4300	6503	SO:0001583	missense	10533	0	0					g.chr3:11340313G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.144G>T	chr3.hg19:g.11340313G>T	ENSP00000346437:p.Lys48Asn	0					ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR	p.K48N	NM_006395.2	NP_006386.1	1	2	3	1.998468	O95352	ATG7_HUMAN		2	169	+			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	1	1	hg19	c.144G>T	CCDS2605.1	1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	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	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	2	ATG7	11315313	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	1	0	0		2	2	2	0		0	0	164		164	164	1	2.060000	-2.879464	1	0.170000	NM_006395			104	101		647	636	1		1	1		0	0	164	0		1	9.996573e-01	0	13	0	59	0	104	647
KIAA2018	205717	broad.mit.edu	37	3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000478658.1	-	5	5194	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D			Q68DE3	K2018_HUMAN	KIAA2018	1726						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			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						GATATCTGAGGCCACAGTATG	0.408																																						ENST00000478658.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(5176-5178)gCc>gAc		KIAA2018							119.0	114.0	115.0					3																	113375352		1877	4118	5995	SO:0001583	missense	205717	0	0					g.chr3:113375352G>T	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.5177C>A	chr3.hg19:g.113375352G>T	ENSP00000420721:p.Ala1726Asp	0					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D	p.A1726D			1	2	3	1.998468	Q68DE3	K2018_HUMAN		5	5194	-			Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	1	1	hg19	c.5177C>A	CCDS43133.1	1	.	.	.	.	.	.	.	.	.	.	G	9.415	1.081650	0.20309	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.6	4.73	0.59995	5.6	4.73	0.59995	.	0.444083	0.24134	N	0.041223	T	0.09598	0.0236	N	0.19112	0.55	0.19300	N	0.999979	B	0.27559	0.181	B	0.24155	0.051	T	0.21518	-1.0243	10	0.36615	T	0.2	-0.136	5.2305	0.15420	0.0798:0.1796:0.6145:0.1261	.	1726	Q68DE3	K2018_HUMAN	D	1726	ENSP00000320794:A1726D;ENSP00000420721:A1726D	ENSP00000320794:A1726D	A	-	2	0	0	KIAA2018	114858042	114858042	0.919000	0.31177	0.917000	0.36280	0.950000	0.60333	3.053000	0.49901	1.368000	0.46115	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.402419	1	0.170000	NM_001009899			119	118		525	514	1		1	1		0	0	114	0		1	9.504671e-01	0	7	0	17	0	119	525
GRAMD1C	54762	broad.mit.edu	37	3	113563463	113563463	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113563463T>A	ENST00000358160.4	+	2	633	c.141T>A	c.(139-141)aaT>aaA	p.N47K	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	47						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGCCAAATTTACATAATT	0.368																																						ENST00000358160.4	1.000000	0.170000	4.100000e-01	2.300000e-01	0.300000	0.350914	0.300000	0.290000																										0				26						c.(139-141)aaT>aaA		GRAM domain containing 1C							119.0	124.0	122.0					3																	113563463		2203	4300	6503	SO:0001583	missense	54762	0	0					g.chr3:113563463T>A		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.141T>A	chr3.hg19:g.113563463T>A	ENSP00000350881:p.Asn47Lys	0					GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.N47K	NM_017577.4	NP_060047.3	1	2	3	1.998468	Q8IYS0	GRM1C_HUMAN		2	633	+			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	1	1	hg19	c.141T>A	CCDS33826.1	0	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246325	0.22796	.	.	ENSG00000178075	ENST00000358160	T	0.29397	1.57	5.58	3.25	0.37280	5.58	3.25	0.37280	.	0.928783	0.08833	N	0.887002	T	0.16727	0.0402	N	0.24115	0.695	0.20489	N	0.999892	B	0.15141	0.012	B	0.16289	0.015	T	0.34354	-0.9832	10	0.02654	T	1	.	6.0	0.19515	0.0:0.2034:0.0:0.7966	.	47	Q8IYS0	GRM1C_HUMAN	K	47	ENSP00000350881:N47K	ENSP00000350881:N47K	N	+	3	2	2	GRAMD1C	115046153	115046153	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.635000	0.24629	0.970000	0.38263	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	0	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-12.637470	1	0.170000	NM_017577			15	15		584	579	0		1	0		0	0	111	0		9.998645e-01	4.060012e-02	0	1	0	11	0	15	584
GRAMD1C	54762	broad.mit.edu	37	3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A	rs371194067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000358160.4	+	8	1261	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	257						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348																																						ENST00000358160.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(769-771)Gat>Aat		GRAM domain containing 1C		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	70.0	76.0	74.0		769,154	3.7	0.0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRAMD1C	NM_017577.4,NM_001172105.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	257/663,52/458	113623099	1,13005	2203	4300	6503	SO:0001583	missense	54762	2	121412	37				g.chr3:113623099G>A		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.769G>A	chr3.hg19:g.113623099G>A	ENSP00000350881:p.Asp257Asn	0					GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame	p.D257N	NM_017577.4	NP_060047.3	1	2	3	1.998468	Q8IYS0	GRM1C_HUMAN		8	1261	+			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	1	1	hg19	c.769G>A	CCDS33826.1	1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362379	0.24684	0.0	1.16E-4	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.45668	1.47;0.89;0.94	5.72	3.74	0.42951	5.72	3.74	0.42951	.	1.651810	0.04538	N	0.387595	T	0.30386	0.0763	N	0.20807	0.61	0.20074	N	0.999931	B;B	0.16396	0.017;0.006	B;B	0.11329	0.006;0.001	T	0.21724	-1.0237	10	0.35671	T	0.21	.	6.3123	0.21171	0.24:0.0:0.76:0.0	.	90;257	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	257;90;52;52	ENSP00000350881:D257N;ENSP00000419132:D90N;ENSP00000408135:D52N	ENSP00000350881:D257N	D	+	1	0	0	GRAMD1C	115105789	115105789	0.935000	0.31712	0.013000	0.15412	0.698000	0.40448	1.780000	0.38634	0.693000	0.31634	0.563000	0.77884	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.165562	1	0.170000	NM_017577			56	54		285	278	1		1	1		0	0	64	0		1	8.386104e-01	0	4	0	15	0	56	285
KIAA1407	57577	broad.mit.edu	37	3	113697720	113697720	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418																																						ENST00000295878.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2443-2445)atC>atT		KIAA1407							196.0	193.0	194.0					3																	113697720		2203	4300	6503	SO:0001819	synonymous_variant	57577	0	0					g.chr3:113697720G>A	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.2445C>T	chr3.hg19:g.113697720G>A		0					KIAA1407_ENST00000545063.1_3'UTR	p.I815I	NM_020817.1	NP_065868.1	1	2	3	1.998468	Q8NCU4	K1407_HUMAN		15	2591	-			B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	1	1	hg19	c.2445C>T	CCDS2977.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	1	0	1		2	2	2	0		0	0	180		180	179	1	2.060000	-20.000000	1	0.170000	NM_020817			168	165		694	676	0		1	1		0	0	180	0		1	9.219109e-01	0	7	0	13	0	168	694
KIAA1407	57577	broad.mit.edu	37	3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	708										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443																																						ENST00000295878.3	1.000000	0.690000	1	7.800000e-01	0.890000	0.888742	0.890000	1.000000																										0				40						c.(2122-2124)caG>caT		KIAA1407							319.0	302.0	308.0					3																	113720481		2203	4300	6503	SO:0001583	missense	57577	0	0					g.chr3:113720481C>A	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.2124G>T	chr3.hg19:g.113720481C>A	ENSP00000295878:p.Gln708His	0					KIAA1407_ENST00000545063.1_3'UTR	p.Q708H	NM_020817.1	NP_065868.1	1	2	3	1.998468	Q8NCU4	K1407_HUMAN		13	2270	-			B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	1	1	hg19	c.2124G>T	CCDS2977.1	1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125908	0.56721	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.19	-1.44	0.08856	5.19	-1.44	0.08856	.	0.303015	0.36200	N	0.002729	T	0.47893	0.1470	M	0.72118	2.19	0.50813	D	0.999891	D	0.69078	0.997	P	0.60473	0.875	T	0.45220	-0.9276	10	0.42905	T	0.14	.	9.9535	0.41653	0.0:0.3164:0.0:0.6836	.	708	Q8NCU4	K1407_HUMAN	H	708	ENSP00000295878:Q708H	ENSP00000295878:Q708H	Q	-	3	2	2	KIAA1407	115203171	115203171	0.796000	0.28864	0.651000	0.29564	0.985000	0.73830	-0.007000	0.12810	-0.159000	0.11021	-0.355000	0.07637	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	1	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-13.636690	1	0.170000	NM_020817			64	63		792	762	1		1	1		0	0	159	0		1	6.129190e-01	0	7	0	20	0	64	792
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000460779.1	-	6	949	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000383673.2_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	220					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)			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)	GGATCCTTTTCCGTCTCCTTT	0.507																																						ENST00000460779.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(658-660)cgG>cgT		dopamine receptor D3	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)						197.0	192.0	193.0					3																	113858410		2203	4300	6503	SO:0001819	synonymous_variant	1814	0	0					g.chr3:113858410C>A		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.660G>T	chr3.hg19:g.113858410C>A		0					DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000383673.2_Silent_p.R220R	p.R220R	NM_001282563.1	NP_001269492.1	1	2	3	1.998468	P35462	DRD3_HUMAN		6	949	-			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	1	1	hg19	c.660G>T	CCDS2978.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_000796.3			162	159		674	662	1		1			0	0	158	0		1	0	0	0	0	0	0	162	674
ZNF80	7634	broad.mit.edu	37	3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	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	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.R5>?(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)				AACCCATCGCGTTTAGGGCTC	0.542																																					GBM(23;986 1114 21716)	ENST00000482457.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Complex(1)	p.R5>?(1)	large_intestine(1)	32						c.(13-15)Cgc>Tgc		zinc finger protein 80							88.0	90.0	89.0					3																	113955909		2203	4300	6503	SO:0001583	missense	7634	0	0					g.chr3:113955909G>A	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.13C>T	chr3.hg19:g.113955909G>A	ENSP00000417192:p.Arg5Cys	0					RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	p.R5C	NM_007136.3	NP_009067.2	1	2	3	1.998468	P51504	ZNF80_HUMAN		1	516	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	1	1	hg19	c.13C>T	CCDS2979.1	1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134667	0.09032	.	.	ENSG00000174255	ENST00000482457	T	0.22743	1.94	2.44	-1.91	0.07641	2.44	-1.91	0.07641	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40098	-0.9581	9	0.02654	T	1	.	8.0728	0.30699	0.7061:0.0:0.2939:0.0	.	5	P51504	ZNF80_HUMAN	C	5	ENSP00000417192:R5C	ENSP00000309812:R5C	R	-	1	0	0	ZNF80	115438599	115438599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-0.552000	0.06167	-0.355000	0.07637	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_007136			102	98		389	386	1		1	0		0	0	99	0		1	0	0	0	0	1	0	102	389
TIGIT	201633	broad.mit.edu	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A	rs369133784		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582																																						ENST00000486257.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				17						c.(442-444)Gcg>Acg		T cell immunoreceptor with Ig and ITIM domains		G	THR/ALA	0,4406		0,0,2203	91.0	76.0	81.0		442	-8.2	0.0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense	201633	3	121412	37				g.chr3:114018494G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.442G>A	chr3.hg19:g.114018494G>A	ENSP00000419085:p.Ala148Thr	0					TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T	p.A148T			1	2	3	1.998468	Q495A1	TIGIT_HUMAN		4	699	+			Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	1	1	hg19	c.442G>A	CCDS2980.1	1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	0	TIGIT	115501184	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.332352	1	0.170000	NM_173799			39	38		216	212	1		1	0		0	0	61	0		1	9.568110e-01	0	1	0	30	0	39	216
ZBTB20	26137	broad.mit.edu	37	3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000474710.1	-	5	2222	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	682						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)			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)		CTGTGCAGGGCCACGTGTCGC	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2044-2046)Gcc>Acc		zinc finger and BTB domain containing 20							98.0	90.0	92.0					3																	114058034		2203	4300	6503	SO:0001583	missense	26137	0	0					g.chr3:114058034C>T	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.2044G>A	chr3.hg19:g.114058034C>T	ENSP00000419153:p.Ala682Thr	0					ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T	p.A682T	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		5	2222	-			Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	1	1	hg19	c.2044G>A	CCDS54626.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409447	0.83340	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	6.17	6.17	0.99709	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	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.55444	-0.8140	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	682	Q9HC78	ZBT20_HUMAN	T	609;609;609;609;682;609;609	ENSP00000420324:A609T;ENSP00000377375:A609T;ENSP00000418092:A609T;ENSP00000419902:A609T;ENSP00000419153:A682T;ENSP00000349803:A609T;ENSP00000417307:A609T	ENSP00000349803:A609T	A	-	1	0	0	ZBTB20	115540724	115540724	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.842000	0.69417	2.941000	0.99782	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_015642			85	83		414	406	1		1	0		0	0	81	0		1	2.756278e-01	0	0	0	6	0	85	414
ZBTB20	26137	broad.mit.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409						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)			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)		CAGCCTGCTCGGGTTGGGTGG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1225-1227)ccC>ccT		zinc finger and BTB domain containing 20							47.0	51.0	50.0					3																	114069698		2203	4300	6503	SO:0001819	synonymous_variant	26137	0	0					g.chr3:114069698G>A	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.1227C>T	chr3.hg19:g.114069698G>A		0					ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.P336P	p.P409P	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		4	1405	-			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	1	1	hg19	c.1227C>T	CCDS54626.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.408055	0	0.170000	NM_015642			89	87		416	409	1		1	0		0	0	63	0		1	2.897973e-01	0	0	0	6	0	89	416
ZBTB20	26137	broad.mit.edu	37	3	114069836	114069836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000474710.1	-	4	1267	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000462705.1_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	363						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)			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)		CGGTGCCCTCGGCCTGGTCTG	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1087-1089)gcC>gcT		zinc finger and BTB domain containing 20							96.0	66.0	76.0					3																	114069836		2203	4300	6503	SO:0001819	synonymous_variant	26137	0	0					g.chr3:114069836G>A	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.1089C>T	chr3.hg19:g.114069836G>A		0					ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A290A	p.A363A	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		4	1267	-			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	1	1	hg19	c.1089C>T	CCDS54626.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_015642			82	82		282	273	1		1	0		0	0	46	0		1	4.097675e-01	0	1	0	5	0	82	282
ZBTB20	26137	broad.mit.edu	37	3	114070337	114070337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000474710.1	-	4	766	c.588C>T	c.(586-588)aaC>aaT	p.N196N	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20_ENST00000462705.1_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	196						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)			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)		CATCGCCCACGTTCTGTGACA	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				48						c.(586-588)aaC>aaT		zinc finger and BTB domain containing 20							75.0	62.0	66.0					3																	114070337		2203	4300	6503	SO:0001819	synonymous_variant	26137	1	121410	29				g.chr3:114070337G>A	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.588C>T	chr3.hg19:g.114070337G>A		0					ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.N123N	p.N196N	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		4	766	-			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	1	1	hg19	c.588C>T	CCDS54626.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_015642			56	56		331	329	1		1	0		0	0	62	0		1	2.741492e-01	0	0	0	7	0	56	331
ZBTB20	26137	broad.mit.edu	37	3	114070553	114070553	+	Silent	SNP	G	G	A	rs554447265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000474710.1	-	4	550	c.372C>T	c.(370-372)gcC>gcT	p.A124A	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000462705.1_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	124	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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)			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)		AGGGGCTGCCGGCTGCCAGCA	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0				NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(370-372)gcC>gcT		zinc finger and BTB domain containing 20							44.0	42.0	42.0					3																	114070553		2203	4300	6503	SO:0001819	synonymous_variant	26137	3	121406	33				g.chr3:114070553G>A	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.372C>T	chr3.hg19:g.114070553G>A		0					ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A51A	p.A124A	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		4	550	-			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	1	1	hg19	c.372C>T	CCDS54626.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	0		2	2	2	0		0	0	47		47	51	1	2.060000	-20.000000	1	0.170000	NM_015642			45	38		223	248	1		1	0		0	0	47	0		1	1.383792e-01	0	1	0	3	0	45	223
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000474710.1	-	4	408	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_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																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000474710.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.995821	0.990000	1.000000																										1	Substitution - Missense(1)	p.R4H(1)	large_intestine(1)	48						c.(229-231)cGc>cAc		zinc finger and BTB domain containing 20							75.0	76.0	76.0					3																	114070695		2202	4298	6500	SO:0001583	missense	26137	1	121192	32				g.chr3:114070695C>T	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	chr3.hg19:g.114070695C>T	ENSP00000419153:p.Arg77His	0					ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H	p.R77H	NM_001164342.1	NP_001157814.1	1	2	3	1.998468	Q9HC78	ZBT20_HUMAN		4	408	-			Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	0	1	hg19	c.230G>A	CCDS54626.1	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	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	0	ZBTB20	115553385	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	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1		19	2	2	1		1	1	58		58	58	1	2.060000	-3.318794	1	0.170000	NM_015642			38	38		315	309	1		1	0		1	0	58	0		9.965133e-01	1.227457e-02	0	0	0	2	0	38	315
GAP43	2596	broad.mit.edu	37	3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000305124.6	+	2	601	c.235G>A	c.(235-237)Gag>Aag	p.E79K	GAP43_ENST00000393780.3_Missense_Mutation_p.E115K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					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.E79Q(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)		CGATGGGGTGGAGAAGAAGGG	0.537																																						ENST00000305124.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E79Q(1)	upper_aerodigestive_tract(1)	32						c.(235-237)Gag>Aag		growth associated protein 43							81.0	78.0	79.0					3																	115395064		2203	4300	6503	SO:0001583	missense	2596	0	0					g.chr3:115395064G>A		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.235G>A	chr3.hg19:g.115395064G>A	ENSP00000305010:p.Glu79Lys	0					GAP43_ENST00000393780.3_Missense_Mutation_p.E115K	p.E79K	NM_002045.3	NP_002036.1	1	2	3	1.998468	P17677	NEUM_HUMAN		2	601	+			A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	1	1	hg19	c.235G>A	CCDS33830.1	1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602679	0.46423	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60672	0.17;0.17	4.62	4.62	0.57501	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	D	0.000698	T	0.54481	0.1861	M	0.63843	1.955	0.39176	D	0.962681	B;B	0.31153	0.31;0.065	B;B	0.32465	0.146;0.033	T	0.60667	-0.7218	10	0.52906	T	0.07	-7.7158	11.4995	0.50428	0.0825:0.0:0.9175:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	K	79;115	ENSP00000305010:E79K;ENSP00000377372:E115K	ENSP00000305010:E79K	E	+	1	0	0	GAP43	116877754	116877754	0.987000	0.35691	0.830000	0.32933	0.857000	0.48899	3.281000	0.51685	2.547000	0.85894	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_002045			60	60		297	292	1		1	0		0	0	77	0		1	7.764046e-01	0	0	0	16	0	60	297
GAP43	2596	broad.mit.edu	37	3	115395285	115395285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000305124.6	+	2	822	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GAP43_ENST00000393780.3_Silent_p.P188P	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	152					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)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617																																						ENST00000305124.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(454-456)ccG>ccA		growth associated protein 43							37.0	40.0	39.0					3																	115395285		2203	4298	6501	SO:0001819	synonymous_variant	2596	1	121400	28				g.chr3:115395285G>A		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.456G>A	chr3.hg19:g.115395285G>A		0					GAP43_ENST00000393780.3_Silent_p.P188P	p.P152P	NM_002045.3	NP_002036.1	1	2	3	1.998468	P17677	NEUM_HUMAN		2	822	+			A8K0Y4	Silent	SNP	ENST00000305124.6	1	1	hg19	c.456G>A	CCDS33830.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.686698	1	0.170000	NM_002045			53	53		201	197	1		1	0		0	0	57	0		1	7.871614e-01	0	0	0	13	0	53	201
ATG7	10533	broad.mit.edu	37	3	11596299	11596299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	ENST00000354449.3	+	19	2119	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	698					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGGACATGAGCGATGATGAGA	0.627																																						ENST00000354449.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(2092-2094)agC>agT		autophagy related 7							90.0	81.0	84.0					3																	11596299		2203	4300	6503	SO:0001819	synonymous_variant	10533	0	0					g.chr3:11596299C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2094C>T	chr3.hg19:g.11596299C>T		0					ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	p.S698S	NM_006395.2	NP_006386.1	1	2	3	1.998468	O95352	ATG7_HUMAN		19	2119	+			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	0	1	hg19	c.2094C>T	CCDS2605.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	0	0	0		15	9	2	1		1	1	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006395			35	34		159	151	0		1	1		1	0	43	0		9.987712e-01	9.845603e-01	0	17	0	79	0	35	159
LSAMP	4045	broad.mit.edu	37	3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512																																						ENST00000490035.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(265-267)cGc>cAc		limbic system-associated membrane protein							122.0	110.0	114.0					3																	115805293		2203	4300	6503	SO:0001583	missense	4045	0	0					g.chr3:115805293C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.266G>A	chr3.hg19:g.115805293C>T	ENSP00000419000:p.Arg89His	0					LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	p.R89H	NM_002338.3	NP_002329.2	1	2	3	1.998468	Q13449	LSAMP_HUMAN		2	765	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	1	1	hg19	c.266G>A	CCDS2982.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164072	0.78339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	5.65	0.86999	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.58061	0.2096	N	0.14661	0.345	0.46954	D	0.999262	D;B	0.54207	0.965;0.425	P;P	0.49922	0.615;0.626	T	0.59705	-0.7404	10	0.39692	T	0.17	-10.0134	13.7134	0.62682	0.1536:0.8463:0.0:0.0	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	H	73;89;86;123	ENSP00000328455:R73H;ENSP00000419000:R89H;ENSP00000443429:R86H;ENSP00000418506:R123H	ENSP00000328455:R73H	R	-	2	0	0	LSAMP	117287983	117287983	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.668000	0.90789	0.555000	0.69702	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	0	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_002338			50	48		204	203	1		1	0		0	0	57	0		1	9.999607e-01	0	0	0	65	0	50	204
ARHGAP31	57514	broad.mit.edu	37	3	119084170	119084170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	36	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)			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						TAGTTCCATACGTTTTGAAGA	0.363																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(106-108)taC>taT		Rho GTPase activating protein 31							83.0	75.0	78.0					3																	119084170		1842	4105	5947	SO:0001819	synonymous_variant	57514	0	0					g.chr3:119084170C>T		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.108C>T	chr3.hg19:g.119084170C>T		0						p.Y36Y	NM_020754.2	NP_065805.2	1	2	3	1.998468	Q2M1Z3	RHG31_HUMAN		2	640	+			Q9ULL6	Silent	SNP	ENST00000264245.4	1	1	hg19	c.108C>T	CCDS43135.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				45	45		220	216	1		1	1		0	0	59	0		1	9.167041e-01	0	3	0	20	0	45	220
ARHGAP31	57514	broad.mit.edu	37	3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	43	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)			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						AGCTGTGCAGAATTTATAGAG	0.358																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(127-129)gAa>gCa		Rho GTPase activating protein 31							99.0	89.0	92.0					3																	119084190		1855	4127	5982	SO:0001583	missense	57514	0	0					g.chr3:119084190A>C		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.128A>C	chr3.hg19:g.119084190A>C	ENSP00000264245:p.Glu43Ala	0						p.E43A	NM_020754.2	NP_065805.2	1	2	3	1.998468	Q2M1Z3	RHG31_HUMAN		2	660	+			Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	1	1	hg19	c.128A>C	CCDS43135.1	1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787608	0.49997	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.65	5.65	0.86999	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070936	0.53938	D	0.000057	T	0.33876	0.0878	L	0.52126	1.63	0.80722	D	1	P	0.37083	0.581	P	0.49502	0.613	T	0.03212	-1.1060	10	0.51188	T	0.08	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	43	Q2M1Z3	RHG31_HUMAN	A	43;43;14	ENSP00000264245:E43A;ENSP00000418429:E14A	ENSP00000264245:E43A	E	+	2	0	0	ARHGAP31	120566880	120566880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				53	53		235	229	1		1	0		0	0	64	0		1	9.551797e-01	0	0	0	25	0	53	235
ARHGAP31	57514	broad.mit.edu	37	3	119128481	119128481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119128481G>A	ENST00000264245.4	+	11	2316	c.1784G>A	c.(1783-1785)aGc>aAc	p.S595N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	595					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTCCTTGAGCTCTCAACAT	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4	1.000000	0.160000	6.900000e-01	2.800000e-01	0.440000	0.490576	0.440000	0.390000																										0				67						c.(1783-1785)aGc>aAc		Rho GTPase activating protein 31							28.0	32.0	31.0					3																	119128481		1896	4104	6000	SO:0001583	missense	57514	0	0					g.chr3:119128481G>A		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.1784G>A	chr3.hg19:g.119128481G>A	ENSP00000264245:p.Ser595Asn	0						p.S595N	NM_020754.2	NP_065805.2	1	2	3	1.998468	Q2M1Z3	RHG31_HUMAN		11	2316	+			Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	0	1	hg19	c.1784G>A	CCDS43135.1	0	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268380	0.01433	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06687	3.27	5.27	3.44	0.39384	5.27	3.44	0.39384	.	0.625587	0.15216	N	0.274181	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.40961	-0.9535	10	0.26408	T	0.33	.	6.9468	0.24522	0.0926:0.1758:0.7316:0.0	.	595	Q2M1Z3	RHG31_HUMAN	N	595	ENSP00000264245:S595N	ENSP00000264245:S595N	S	+	2	0	0	ARHGAP31	120611171	120611171	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.240000	0.18042	0.757000	0.33036	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-7.812473	1	0.170000				5	5		142	138	0		1	0		0	0	28	0		9.340263e-01	3.084946e-01	0	0	0	28	0	5	142
ARHGAP31	57514	broad.mit.edu	37	3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	735	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(2203-2205)aGc>aAc		Rho GTPase activating protein 31							54.0	59.0	57.0					3																	119132980		1965	4147	6112	SO:0001583	missense	57514	0	0					g.chr3:119132980G>A		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.2204G>A	chr3.hg19:g.119132980G>A	ENSP00000264245:p.Ser735Asn	0						p.S735N	NM_020754.2	NP_065805.2	1	2	3	1.998468	Q2M1Z3	RHG31_HUMAN		12	2736	+			Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	1	1	hg19	c.2204G>A	CCDS43135.1	1	.	.	.	.	.	.	.	.	.	.	G	2.576	-0.298530	0.05532	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.3	-5.78	0.02362	5.3	-5.78	0.02362	.	0.804525	0.11439	N	0.564024	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.6946	0.40150	0.2901:0.0:0.5885:0.1214	.	735	Q2M1Z3	RHG31_HUMAN	N	735	ENSP00000264245:S735N	ENSP00000264245:S735N	S	+	2	0	0	ARHGAP31	120615670	120615670	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.413000	0.07123	-0.783000	0.04534	-0.290000	0.09829	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				96	94		407	402	1		1	0		0	0	104	0		1	9.954277e-01	0	0	0	37	0	96	407
ARHGAP31	57514	broad.mit.edu	37	3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1051					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.997531	0.990000	1.000000																										0				67						c.(3151-3153)Ggg>Tgg		Rho GTPase activating protein 31							117.0	132.0	127.0					3																	119133927		2128	4238	6366	SO:0001583	missense	57514	0	0					g.chr3:119133927G>T		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.3151G>T	chr3.hg19:g.119133927G>T	ENSP00000264245:p.Gly1051Trp	0						p.G1051W	NM_020754.2	NP_065805.2	1	2	3	1.998468	Q2M1Z3	RHG31_HUMAN		12	3683	+			Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	1	1	hg19	c.3151G>T	CCDS43135.1	1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709532	0.30322	.	.	ENSG00000031081	ENST00000264245	T	0.06608	3.28	5.39	1.34	0.21922	5.39	1.34	0.21922	.	0.947823	0.08777	N	0.895302	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.39035	-0.9633	10	0.66056	D	0.02	.	3.8652	0.09013	0.1481:0.2452:0.4921:0.1147	.	1051	Q2M1Z3	RHG31_HUMAN	W	1051	ENSP00000264245:G1051W	ENSP00000264245:G1051W	G	+	1	0	0	ARHGAP31	120616617	120616617	0.001000	0.12720	0.000000	0.03702	0.842000	0.47809	0.926000	0.28804	0.376000	0.24707	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1		2	2	2	0		0	0	163		163	159	1	2.060000	-2.879461	1	0.170000				89	89		807	782	1		1	0		0	0	163	0		1	9.526535e-01	0	1	0	46	0	89	807
TMEM39A	55254	broad.mit.edu	37	3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	247			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)		p.S247L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483																																						ENST00000319172.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S247L(1)	breast(1)	13						c.(739-741)tCg>tTg		transmembrane protein 39A							81.0	79.0	80.0					3																	119156786		2203	4300	6503	SO:0001583	missense	55254	0	0					g.chr3:119156786G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.740C>T	chr3.hg19:g.119156786G>A	ENSP00000326063:p.Ser247Leu	0					TMEM39A_ENST00000486159.1_5'UTR	p.S247L	NM_018266.1	NP_060736.1	1	2	3	1.998468	Q9NV64	TM39A_HUMAN		6	1160	-			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	1	1	hg19	c.740C>T	CCDS2987.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967277	0.53507	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46819	0.86	5.5	4.61	0.57282	5.5	4.61	0.57282	.	0.215456	0.48767	D	0.000173	T	0.30603	0.0770	N	0.22421	0.69	0.47905	D	0.999546	P	0.51653	0.947	B	0.36808	0.233	T	0.04946	-1.0916	10	0.23302	T	0.38	-6.975	15.2941	0.73891	0.0:0.1406:0.8594:0.0	.	247	Q9NV64	TM39A_HUMAN	L	247;93	ENSP00000326063:S247L	ENSP00000326063:S247L	S	-	2	0	0	TMEM39A	120639476	120639476	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.825000	0.62708	1.289000	0.44618	0.650000	0.86243	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_018266			66	64		251	242	1		1	1		0	0	60	0		1	1	0	17	0	97	0	66	251
TMEM39A	55254	broad.mit.edu	37	3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	140						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383																																						ENST00000319172.5	1.000000	0.580000	1	7.700000e-01	0.990000	0.916410	0.990000	1.000000																										0				13						c.(418-420)Gag>Tag		transmembrane protein 39A							78.0	73.0	75.0					3																	119171296		2203	4300	6503	SO:0001587	stop_gained	55254	0	0					g.chr3:119171296C>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.418G>T	chr3.hg19:g.119171296C>A	ENSP00000326063:p.Glu140*	0					TMEM39A_ENST00000486159.1_Intron	p.E140*	NM_018266.1	NP_060736.1	1	2	3	1.998468	Q9NV64	TM39A_HUMAN		4	838	-			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Nonsense_Mutation	SNP	ENST00000319172.5	0	1	hg19	c.418G>T	CCDS2987.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.526548	0.97637	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.7115	17.331	0.87264	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000326063:E140X	E	-	1	0	0	TMEM39A	120653986	120653986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.559000	0.86315	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.221975	1	0.170000	NM_018266			14	14		153	151	0		1	1		0	0	42	0		9.997782e-01	9.992504e-01	0	7	0	131	0	14	153
CD80	941	broad.mit.edu	37	3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	124	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TTGAAAGCGTCTTTTTCATAC	0.463																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(370-372)Gac>Tac		CD80 molecule	Abatacept(DB01281)|Belatacept(DB06681)						111.0	112.0	112.0					3																	119263445		2203	4300	6503	SO:0001583	missense	941	0	0					g.chr3:119263445C>A		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.370G>T	chr3.hg19:g.119263445C>A	ENSP00000264246:p.Asp124Tyr	0					CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	p.D124Y	NM_005191.3	NP_005182.1	1	2	3	1.998468	P33681	CD80_HUMAN		3	732	-			Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	1	1	hg19	c.370G>T	CCDS2989.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564544	0.45694	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	2.34	0.29019	5.13	2.34	0.29019	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616448	0.14576	N	0.311191	T	0.48519	0.1504	N	0.02751	-0.505	0.09310	N	1	D;D;D;D	0.64830	0.994;0.984;0.992;0.992	P;P;P;P	0.53146	0.719;0.565;0.707;0.707	T	0.37407	-0.9707	10	0.72032	D	0.01	-3.8667	4.979	0.14155	0.0:0.6393:0.1739:0.1869	.	124;124;124;124	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	124	ENSP00000264246:D124Y;ENSP00000418364:D124Y;ENSP00000373165:D124Y;ENSP00000373164:D124Y	ENSP00000264246:D124Y	D	-	1	0	0	CD80	120746135	120746135	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.302000	0.19192	0.318000	0.23185	0.650000	0.86243	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_005191			87	85		392	387	1		1	0		0	0	96	0		1	6.220820e-01	0	0	0	11	0	87	392
POPDC2	64091	broad.mit.edu	37	3	119379151	119379151	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000264231.3	-	1	286	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000493094.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.G40G	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	40					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)			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)		CCCCCATGAAGCCCAGGAGTA	0.572																																						ENST00000264231.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(118-120)ggC>ggA		popeye domain containing 2							95.0	86.0	89.0					3																	119379151		2203	4300	6503	SO:0001819	synonymous_variant	64091	0	0					g.chr3:119379151G>T	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.120C>A	chr3.hg19:g.119379151G>T		0					POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000493094.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron	p.G40G	NM_022135.2	NP_071418.2	1	2	3	1.998468	Q9HBU9	POPD2_HUMAN		1	286	-			Q86UE7	Silent	SNP	ENST00000264231.3	1	1	hg19	c.120C>A	CCDS2992.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_022135			45	43		219	213	1		1	0		0	0	63	0		1	5.335943e-01	0	0	0	10	0	45	219
COX17	10063	broad.mit.edu	37	3	119394074	119394074	+	Silent	SNP	G	G	A	rs143622776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000261070.2	-	2	206	c.114C>T	c.(112-114)atC>atT	p.I38I	COX17_ENST00000484810.1_Silent_p.I73I|COX17_ENST00000497116.1_Silent_p.I38I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	38					brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.0					ENST00000261070.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				3						c.(112-114)atC>atT		COX17 cytochrome c oxidase copper chaperone		G		4,4402	8.1+/-20.4	0,4,2199	107.0	100.0	102.0		114	-9.6	0.6	3	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	COX17	NM_005694.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		38/64	119394074	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10063	23	121410	45				g.chr3:119394074G>A	L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"""Mitochondrial respiratory chain complex assembly factors"""	2264	protein-coding gene	gene with protein product		604813	"""COX17 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX17 homolog, cytochrome c oxidase assembly protein (yeast)"", ""COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)"", ""COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 17 (yeast)"""			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.114C>T	chr3.hg19:g.119394074G>A		0					COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	p.I38I	NM_005694.1	NP_005685.1	1	2	3	1.998468	Q14061	COX17_HUMAN		2	206	-			B2R5D2|D3DN84|Q3MHD6	Silent	SNP	ENST00000261070.2	1	1	hg19	c.114C>T	CCDS2993.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	1	0	1		2	2	2	0		0	0	60		60	61	1	2.060000	-19.991640	1	0.170000	NM_005694			44	44		240	234	1		1	1		0	0	60	0		1	1	0	140	0	419	0	44	240
NR1I2	8856	broad.mit.edu	37	3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000337940.4	+	6	1000	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	NR1I2_ENST00000393716.2_Missense_Mutation_p.A279T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612																																						ENST00000337940.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(952-954)Gcc>Acc		nuclear receptor subfamily 1, group I, member 2	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)						59.0	52.0	55.0					3																	119533866		2203	4300	6503	SO:0001583	missense	8856	0	0					g.chr3:119533866G>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.952G>A	chr3.hg19:g.119533866G>A	ENSP00000336528:p.Ala318Thr	0					NR1I2_ENST00000393716.2_Missense_Mutation_p.A279T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	p.A318T	NM_022002.2	NP_071285.1	1	2	3	1.998468	O75469	NR1I2_HUMAN		6	1000	+			Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	1	1	hg19	c.952G>A	CCDS2995.1	1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437170	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95918	-3.85;-3.85;-3.85	4.31	4.31	0.51392	4.31	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.169319	0.52532	D	0.000078	D	0.96408	0.8828	M	0.78344	2.41	0.41774	D	0.989785	P;D;P	0.65815	0.956;0.995;0.69	B;P;B	0.58077	0.384;0.832;0.394	D	0.96231	0.9168	10	0.72032	D	0.01	.	9.8161	0.40853	0.0:0.0:0.795:0.205	.	279;318;265	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	T	279;242;318	ENSP00000377319:A279T;ENSP00000420297:A242T;ENSP00000336528:A318T	ENSP00000336528:A318T	A	+	1	0	0	NR1I2	121016556	121016556	0.075000	0.21258	0.975000	0.42487	0.346000	0.29079	2.305000	0.43664	2.393000	0.81446	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				54	54		245	242	1		1	1		0	0	65	0		1	9.585037e-01	0	10	0	16	0	54	245
NR1I2	8856	broad.mit.edu	37	3	119536008	119536008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000337940.4	+	9	1419	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	NR1I2_ENST00000466380.1_Silent_p.H381H|NR1I2_ENST00000393716.2_Silent_p.H418H	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	418					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602																																						ENST00000337940.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				23						c.(1369-1371)caC>caT		nuclear receptor subfamily 1, group I, member 2	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)						97.0	93.0	95.0					3																	119536008		2203	4300	6503	SO:0001819	synonymous_variant	8856	0	0					g.chr3:119536008C>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1371C>T	chr3.hg19:g.119536008C>T		0					NR1I2_ENST00000393716.2_Silent_p.H418H|NR1I2_ENST00000466380.1_Silent_p.H381H	p.H457H	NM_022002.2	NP_071285.1	1	2	3	1.998468	O75469	NR1I2_HUMAN		9	1419	+			Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	1	1	hg19	c.1371C>T	CCDS2995.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000				61	59		401	392	1		1	1		0	0	100	0		1	9.259732e-01	0	17	0	14	0	61	401
GSK3B	2932	broad.mit.edu	37	3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N|RP11-18H7.1_ENST00000469070.1_lincRNA	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	25					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468																																						ENST00000264235.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(73-75)aGc>aAc		glycogen synthase kinase 3 beta	Lithium(DB01356)						106.0	112.0	110.0					3																	119812208		2203	4300	6503	SO:0001583	missense	2932	0	0					g.chr3:119812208C>T	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.74G>A	chr3.hg19:g.119812208C>T	ENSP00000264235:p.Ser25Asn	0					RP11-18H7.1_ENST00000469070.1_lincRNA|GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	1	2	3	1.998468	P49841	GSK3B_HUMAN		1	1056	-			D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	0	1	hg19	c.74G>A	CCDS54628.1	1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006165	0.19199	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59906	0.23;0.28	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.19112	0.55	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.20046	T	0.44	-7.0844	15.0088	0.71533	0.0:1.0:0.0:0.0	.	25;25	P49841;P49841-2	GSK3B_HUMAN;.	N	25	ENSP00000264235:S25N;ENSP00000324806:S25N	ENSP00000264235:S25N	S	-	2	0	0	GSK3B	121294898	121294898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.118000	0.64928	0.551000	0.68910	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2	0	0	0		19	5	2	1		1	1	90		90	87	1	2.060000	-20.000000	1	0.170000				77	75		428	417	1		1	1		1	0	90	0		1	9.960318e-01	0	14	0	70	0	77	428
NDUFB4	4710	broad.mit.edu	37	3	120315332	120315332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000184266.2	+	1	177	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000485064.1_Silent_p.Q42Q|NDUFB4_ENST00000492739.1_Silent_p.Q42Q	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	42					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		TAAGAGCCCAGCTGAAACGAG	0.632																																						ENST00000184266.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				5						c.(124-126)caG>caA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa							30.0	29.0	29.0					3																	120315332		2203	4296	6499	SO:0001819	synonymous_variant	4710	0	0					g.chr3:120315332G>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.126G>A	chr3.hg19:g.120315332G>A		0					NDUFB4_ENST00000485064.1_Silent_p.Q42Q|NDUFB4_ENST00000492739.1_Silent_p.Q42Q	p.Q42Q	NM_004547.5	NP_004538.2	1	2	3	1.998468	O95168	NDUB4_HUMAN		1	177	+			B2RUY3|B9EJC7	Silent	SNP	ENST00000184266.2	1	1	hg19	c.126G>A	CCDS2999.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_004547			24	24		115	112	1		1	1		0	0	34	0		9.999998e-01	1	0	339	0	1124	0	24	115
HGD	3081	broad.mit.edu	37	3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	268					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433																																						ENST00000283871.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(802-804)tgG>tgA		homogentisate 1,2-dioxygenase							150.0	133.0	139.0					3																	120360511		2203	4300	6503	SO:0001587	stop_gained	3081	0	0					g.chr3:120360511C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.804G>A	chr3.hg19:g.120360511C>T	ENSP00000283871:p.Trp268*	0						p.W268*	NM_000187.3	NP_000178.2	1	2	3	1.998468	Q93099	HGD_HUMAN		11	1263	-			A8K417|B2R8Z0	Nonsense_Mutation	SNP	ENST00000283871.5	0	1	hg19	c.804G>A	CCDS3000.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	5.999160|5.999160|5.999160	0.97189|0.97189|0.97189	.|.|.	.|.|.	ENSG00000113924|ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453|ENST00000283871	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.254500	.|.|0.42964	.|.|D	.|.|0.000639	T|T|.	0.46288|0.46288|.	0.1385|0.1385|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34129|0.34129|.	-0.9841|-0.9841|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-16.2027|-16.2027|-16.2027	18.3691|18.3691|18.3691	0.90401|0.90401|0.90401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	78|75|268	.|.|.	.|.|ENSP00000283871:W268X	A|G|W	-|-|-	1|2|3	0|0|0	0|0|0	HGD|HGD|HGD	121843201|121843201|121843201	121843201|121843201|121843201	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	7.278000|7.278000|7.278000	0.78587|0.78587|0.78587	2.885000|2.885000|2.885000	0.99019|0.99019|0.99019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				63	62		345	337	0		1	1		0	0	96	0		1	9.981756e-01	0	2	0	52	0	63	345
HGD	3081	broad.mit.edu	37	3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	200					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478																																						ENST00000283871.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(598-600)aTc>aCc		homogentisate 1,2-dioxygenase							134.0	123.0	127.0					3																	120365164		2203	4300	6503	SO:0001583	missense	3081	0	0					g.chr3:120365164A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.599T>C	chr3.hg19:g.120365164A>G	ENSP00000283871:p.Ile200Thr	0						p.I200T	NM_000187.3	NP_000178.2	1	2	3	1.998468	Q93099	HGD_HUMAN		9	1058	-			A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	1	1	hg19	c.599T>C	CCDS3000.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968412|3.968412	0.74131|0.74131	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99259|.	-5.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	Cupin, RmlC-type (1);|.	0.155094|.	0.56097|.	D|.	0.000028|.	T|T	0.80215|0.80215	0.4582|0.4582	M|M	0.89414|0.89414	3.03|3.03	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50443|.	0.935|.	D|.	0.71414|.	0.973|.	D|D	0.83610|0.83610	0.0133|0.0133	10|5	0.87932|.	D|.	0|.	-4.2769|-4.2769	13.9693|13.9693	0.64230|0.64230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q93099|.	HGD_HUMAN|.	T|P	200|44;7	ENSP00000283871:I200T|.	ENSP00000283871:I200T|.	I|S	-|-	2|1	0|0	0|0	HGD|HGD	121847854|121847854	121847854|121847854	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.763000|0.763000	0.43281|0.43281	8.353000|8.353000	0.90077|0.90077	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ATC|TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				61	61		307	305	1		1	1		0	0	78	0		1	9.983983e-01	0	39	0	12	0	61	307
RABL3	285282	broad.mit.edu	37	3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T	rs373639108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000483733.1_Missense_Mutation_p.V88I|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	88	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTACCATTTACGGAGTTGTAG	0.383																																						ENST00000273375.3	1.000000	0.580000	1	7.300000e-01	0.910000	0.883496	0.910000	1.000000																										0				17						c.(262-264)Gta>Ata		RAB, member of RAS oncogene family-like 3		C	ILE/VAL	0,4406		0,0,2203	83.0	82.0	82.0		262	3.9	1.0	3		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	RABL3	NM_173825.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	88/237	120428633	1,13005	2203	4300	6503	SO:0001583	missense	285282	1	121408	26				g.chr3:120428633C>T	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.262G>A	chr3.hg19:g.120428633C>T	ENSP00000273375:p.Val88Ile	0					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.V88I	p.V88I	NM_173825.3	NP_776186.2	1	2	3	1.998468	Q5HYI8	RABL3_HUMAN		3	291	-			Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	1	1	hg19	c.262G>A	CCDS3001.1	1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103688	0.08731	0.0	1.16E-4	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74526	-0.85;-0.85	5.72	3.94	0.45596	5.72	3.94	0.45596	.	0.171115	0.50627	N	0.000107	T	0.42517	0.1206	N	0.02697	-0.525	0.42127	D	0.99145	B	0.12013	0.005	B	0.08055	0.003	T	0.12915	-1.0529	10	0.15952	T	0.53	-3.7258	2.9984	0.06005	0.1445:0.5599:0.1399:0.1558	.	88	Q5HYI8	RABL3_HUMAN	I	88	ENSP00000273375:V88I;ENSP00000419986:V88I	ENSP00000273375:V88I	V	-	1	0	0	RABL3	121911323	121911323	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.196000	0.42686	0.766000	0.33244	0.655000	0.94253	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.221886	1	0.170000	NM_173825			22	22		268	268	0		1	0		0	0	45	0		9.999990e-01	8.438786e-01	0	0	0	43	0	22	268
GTF2E1	2960	broad.mit.edu	37	3	120469705	120469705	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	102	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413																																						ENST00000283875.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(304-306)gtG>gtA		general transcription factor IIE, polypeptide 1, alpha 56kDa							74.0	74.0	74.0					3																	120469705		2203	4300	6503	SO:0001819	synonymous_variant	2960	0	0					g.chr3:120469705G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.306G>A	chr3.hg19:g.120469705G>A		0						p.V102V	NM_005513.2	NP_005504.2	1	2	3	1.998468	P29083	T2EA_HUMAN		2	399	+			Q16103	Silent	SNP	ENST00000283875.5	1	1	hg19	c.306G>A	CCDS3002.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	1	0	1		15	2	2	0		0	1	82		82	82	1	2.060000	-2.743605	1	0.170000	NM_005513			56	56		282	278	1		1	1		0	0	82	0		1	8.968977e-01	0	6	0	16	0	56	282
GTF2E1	2960	broad.mit.edu	37	3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	329					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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TCATTCACGAGAAAAAGACTT	0.567																																						ENST00000283875.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(985-987)gaG>gaT		general transcription factor IIE, polypeptide 1, alpha 56kDa							74.0	76.0	76.0					3																	120499984		2203	4300	6503	SO:0001583	missense	2960	0	0					g.chr3:120499984G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.987G>T	chr3.hg19:g.120499984G>T	ENSP00000283875:p.Glu329Asp	0						p.E329D	NM_005513.2	NP_005504.2	1	2	3	1.998468	P29083	T2EA_HUMAN		5	1080	+			Q16103	Missense_Mutation	SNP	ENST00000283875.5	1	1	hg19	c.987G>T	CCDS3002.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779073	0.70107	.	.	ENSG00000153767	ENST00000283875	T	0.55413	0.52	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.56958	D	0.05	0.0028	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	329	P29083	T2EA_HUMAN	D	329	ENSP00000283875:E329D	ENSP00000283875:E329D	E	+	3	2	2	GTF2E1	121982674	121982674	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.137000	0.71710	2.814000	0.96858	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	1	0	1		2	2	2	0		0	0	52		52	49	1	2.060000	-20.000000	1	0.170000	NM_005513			53	52		259	250	1		1	1		0	0	52	0		1	9.966602e-01	0	16	0	29	0	53	259
STXBP5L	9515	broad.mit.edu	37	3	120941850	120941850	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000472879.1_Splice_Site_p.S319S|STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S|STXBP5L_ENST00000492541.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	319					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)				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)		TCCTATGTAGCGAACCATTCA	0.368																																						ENST00000273666.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999947	0.990000	1.000000																										0				68						c.(955-957)agC>agT		syntaxin binding protein 5-like							134.0	124.0	127.0					3																	120941850		1861	4094	5955	SO:0001630	splice_region_variant	9515	5	120800	39				g.chr3:120941850C>T	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.957-1C>T	chr3.hg19:g.120941850C>T		0					STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S|STXBP5L_ENST00000472879.1_Splice_Site_p.S319S	p.S319S	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		11	1228	+			Q4G1B4|Q6PIC3	Splice_Site	SNP	ENST00000273666.6	1	0	hg19	c.957C>T	CCDS43137.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-3.221890	1	0.170000		Silent		58	57		404	392	1		1			0	0	118	0		1	0	0	0	0	0	0	58	404
STXBP5L	9515	broad.mit.edu	37	3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	606					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)				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)		ACAAAGGACAGTATTCCATGC	0.373																																						ENST00000273666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1816-1818)aGt>aAt		syntaxin binding protein 5-like							94.0	90.0	91.0					3																	120976165		1837	4083	5920	SO:0001583	missense	9515	0	0					g.chr3:120976165G>A	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.1817G>A	chr3.hg19:g.120976165G>A	ENSP00000273666:p.Ser606Asn	0					STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N	p.S606N	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		17	2088	+			Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	1	1	hg19	c.1817G>A	CCDS43137.1	1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978561	0.18812	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34275	2.04;2.04;1.84;1.37;1.85;2.04	5.33	5.33	0.75918	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	N	0.25380	0.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72338	0.977;0.977	T	0.19451	-1.0305	10	0.16896	T	0.51	-20.4634	19.3771	0.94514	0.0:0.0:1.0:0.0	.	606;606	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	606	ENSP00000273666:S606N;ENSP00000420019:S606N;ENSP00000419627:S606N;ENSP00000420287:S606N;ENSP00000420666:S606N;ENSP00000420167:S606N	ENSP00000273666:S606N	S	+	2	0	0	STXBP5L	122458855	122458855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.514000	0.73746	2.647000	0.89833	0.460000	0.39030	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000				103	100		418	410	1		1			0	0	79	0		1	0	0	0	0	0	0	103	418
STXBP5L	9515	broad.mit.edu	37	3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	888					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)				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)		TTTTATAGGTACATTCCTCTC	0.363																																						ENST00000273666.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999758	0.990000	1.000000																										0				68						c.(2662-2664)Aca>Gca		syntaxin binding protein 5-like							53.0	51.0	52.0					3																	121126092		1843	4096	5939	SO:0001583	missense	9515	1	120652	31				g.chr3:121126092A>G	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.2662A>G	chr3.hg19:g.121126092A>G	ENSP00000273666:p.Thr888Ala	0					STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A	p.T888A	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		24	2933	+			Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	1	1	hg19	c.2662A>G	CCDS43137.1	1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790740	0.31685	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.13	3.98	0.46160	5.13	3.98	0.46160	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.164164	0.56097	D	0.000040	T	0.19886	0.0478	L	0.51853	1.615	0.40957	D	0.98459	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.07673	-1.0760	10	0.20046	T	0.44	-12.4704	6.2561	0.20874	0.7843:0.0:0.0748:0.1409	.	864;888	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	888;864;864;862;888;831	ENSP00000273666:T888A;ENSP00000420019:T864A;ENSP00000419627:T864A;ENSP00000420287:T862A;ENSP00000420666:T888A;ENSP00000420167:T831A	ENSP00000273666:T888A	T	+	1	0	0	STXBP5L	122608782	122608782	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.672000	0.54583	0.997000	0.38969	0.449000	0.29647	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				34	33		221	219	1		1			0	0	46	0		1	0	0	0	0	0	0	34	221
STXBP5L	9515	broad.mit.edu	37	3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	983					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)				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)		ATACTGCAAGCAAATGTGGTG	0.403																																						ENST00000273666.6	1.000000	0.260000	5.700000e-01	3.400000e-01	0.430000	0.474134	0.430000	0.430000																										0				68						c.(2947-2949)gCa>gTa		syntaxin binding protein 5-like							139.0	130.0	133.0					3																	121126378		1956	4162	6118	SO:0001583	missense	9515	0	0					g.chr3:121126378C>T	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.2948C>T	chr3.hg19:g.121126378C>T	ENSP00000273666:p.Ala983Val	0					STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V	p.A983V	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		24	3219	+			Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	1	1	hg19	c.2948C>T	CCDS43137.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.345014	0.95807	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.59906	1.82;1.33;1.33;1.33;1.33;0.23	5.33	5.33	0.75918	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69335	-0.5172	10	0.21014	T	0.42	-19.0912	19.3769	0.94514	0.0:1.0:0.0:0.0	.	959;983	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	983;959;959;957;983;926	ENSP00000273666:A983V;ENSP00000420019:A959V;ENSP00000419627:A959V;ENSP00000420287:A957V;ENSP00000420666:A983V;ENSP00000420167:A926V	ENSP00000273666:A983V	A	+	2	0	0	STXBP5L	122609068	122609068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.660000	0.90430	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-15.947940	1	0.170000				17	17		457	454	0		1			0	0	87	0		9.999646e-01	0	0	0	0	0	0	17	457
STXBP5L	9515	broad.mit.edu	37	3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1029					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)				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)		GAGGATAGCACGAACATTTTG	0.383																																						ENST00000273666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3085-3087)Cga>Tga		syntaxin binding protein 5-like							165.0	149.0	154.0					3																	121132069		1940	4137	6077	SO:0001587	stop_gained	9515	0	0					g.chr3:121132069C>T	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.3085C>T	chr3.hg19:g.121132069C>T	ENSP00000273666:p.Arg1029*	0					STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	p.R1029*	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		25	3356	+			Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	0	1	hg19	c.3085C>T	CCDS43137.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.524871	0.98339	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	.	.	.	6.08	5.2	0.72013	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7142	16.6818	0.85294	0.1308:0.8692:0.0:0.0	.	.	.	.	X	1029;1005;972	.	ENSP00000273666:R1029X	R	+	1	2	2	STXBP5L	122614759	122614759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.153000	0.50685	1.549000	0.49425	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000				81	80		344	337	1		1	0		0	0	87	0		1	0	0	0	0	1	0	81	344
STXBP5L	9515	broad.mit.edu	37	3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1185					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)				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)		AATGGTACCAATTCTGACTTC	0.368																																						ENST00000273666.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3553-3555)caA>caC		syntaxin binding protein 5-like							135.0	128.0	130.0					3																	121137938		1827	4087	5914	SO:0001583	missense	9515	0	0					g.chr3:121137938A>C	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.3555A>C	chr3.hg19:g.121137938A>C	ENSP00000273666:p.Gln1185His	0					STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	p.Q1185H	NM_014980.2	NP_055795.1	1	2	3	1.998468	Q9Y2K9	STB5L_HUMAN		28	3826	+			Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	1	1	hg19	c.3555A>C	CCDS43137.1	1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443462	0.63067	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.30714	1.52;1.53;1.57	5.84	2.25	0.28309	5.84	2.25	0.28309	.	0.054083	0.85682	D	0.000000	T	0.51975	0.1706	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.50915	-0.8771	10	0.87932	D	0	-9.0245	6.5322	0.22334	0.4146:0.0:0.5854:0.0	.	1161;1185	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1185;1161;1128	ENSP00000273666:Q1185H;ENSP00000420019:Q1161H;ENSP00000420167:Q1128H	ENSP00000273666:Q1185H	Q	+	3	2	2	STXBP5L	122620628	122620628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.832000	0.48152	0.498000	0.27948	0.459000	0.35465	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				77	76		320	313	1		1	0		0	0	79	0		1	3.860902e-02	0	0	0	2	0	77	320
POLQ	10721	broad.mit.edu	37	3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(637-639)Gtg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							89.0	85.0	87.0					3																	121256050		2203	4300	6503	SO:0001583	missense	10721	0	0					g.chr3:121256050C>T	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.637G>A	chr3.hg19:g.121256050C>T	ENSP00000264233:p.Val213Met	0						p.V213M	NM_199420.3	NP_955452.3	1	2	3	1.998468	O75417	DPOLQ_HUMAN		5	765	-			O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	1	1	hg19	c.637G>A	CCDS33833.1	1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628850	0.67015	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.18338	2.22	4.92	4.92	0.64577	4.92	4.92	0.64577	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180534	0.48286	D	0.000190	T	0.38295	0.1035	M	0.82132	2.575	0.47862	D	0.999533	D	0.55172	0.97	P	0.60415	0.874	T	0.18840	-1.0324	10	0.49607	T	0.09	.	11.5968	0.50979	0.0:0.9176:0.0:0.0824	.	213	O75417	DPOLQ_HUMAN	M	213;348	ENSP00000264233:V213M	ENSP00000264233:V213M	V	-	1	0	0	POLQ	122738740	122738740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.259000	0.74868	0.462000	0.41574	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-19.999990	1	0.170000	NM_199420			49	48		258	257	1		1	0		0	0	77	0		1	7.053210e-02	0	1	0	2	0	49	258
POLQ	10721	broad.mit.edu	37	3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.R333H(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)		CTCTATGAGGCGATTGATCAG	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)	120						c.(598-600)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							123.0	121.0	121.0					3																	121258312		2203	4300	6503	SO:0001583	missense	10721	1	121412	31				g.chr3:121258312C>T	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.599G>A	chr3.hg19:g.121258312C>T	ENSP00000264233:p.Arg200His	0						p.R200H	NM_199420.3	NP_955452.3	1	2	3	1.998468	O75417	DPOLQ_HUMAN		4	727	-			O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	1	1	hg19	c.599G>A	CCDS33833.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.426896	0.96131	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.15603	2.41	5.97	5.97	0.96955	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.141423	0.64402	D	0.000008	T	0.41994	0.1183	M	0.67700	2.07	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.08785	-1.0705	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	200	O75417	DPOLQ_HUMAN	H	200;335	ENSP00000264233:R200H	ENSP00000264233:R200H	R	-	2	0	0	POLQ	122741002	122741002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.738000	0.68613	2.828000	0.97474	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_199420			66	64		349	342	1		1			0	0	87	0		1	0	0	0	0	0	0	66	349
FBXO40	51725	broad.mit.edu	37	3	121341875	121341875	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	533					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507																																						ENST00000338040.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1597-1599)aaA>aaG		F-box protein 40							53.0	53.0	53.0					3																	121341875		2203	4300	6503	SO:0001819	synonymous_variant	51725	0	0					g.chr3:121341875A>G	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.1599A>G	chr3.hg19:g.121341875A>G		0						p.K533K	NM_016298.3	NP_057382.2	1	2	3	1.998468	Q9UH90	FBX40_HUMAN		3	2013	+			B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	1	1	hg19	c.1599A>G	CCDS33835.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_016298			50	48		223	218	1		1			0	0	47	0		1	0	0	0	0	0	0	50	223
GOLGB1	2804	broad.mit.edu	37	3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000340645.5	-	20	9640	c.9515C>A	c.(9514-9516)tCt>tAt	p.S3172Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S3182Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3172					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)			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)		CTCGGCCACAGAGAGAGCATT	0.498																																						ENST00000340645.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(9514-9516)tCt>tAt		golgin B1							99.0	90.0	93.0					3																	121386347		2203	4300	6503	SO:0001583	missense	2804	0	0					g.chr3:121386347G>T	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.9515C>A	chr3.hg19:g.121386347G>T	ENSP00000341848:p.Ser3172Tyr	0					GOLGB1_ENST00000393667.3_Missense_Mutation_p.S3182Y	p.S3172Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		20	9640	-			B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	1	1	hg19	c.9515C>A	CCDS3004.1	1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937865	0.34189	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	T	0.24699	0.0599	L	0.27053	0.805	0.30771	N	0.742987	D;D;P	0.60575	0.988;0.988;0.496	P;P;B	0.58331	0.837;0.837;0.261	T	0.02588	-1.1137	10	0.66056	D	0.02	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	3182;3182;3172	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	3172;3182	ENSP00000341848:S3172Y;ENSP00000377275:S3182Y	ENSP00000341848:S3172Y	S	-	2	0	0	GOLGB1	122869037	122869037	0.029000	0.19370	0.245000	0.24217	0.249000	0.25844	0.946000	0.29069	2.740000	0.93945	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.187495	1	0.170000	NM_004487			83	79		331	328	1		1	1		0	0	77	0		1	1	0	143	0	280	0	83	331
GOLGB1	2804	broad.mit.edu	37	3	121400548	121400548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000340645.5	-	15	8969	c.8844G>A	c.(8842-8844)gaG>gaA	p.E2948E	GOLGB1_ENST00000393667.3_Silent_p.E2953E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2948					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)			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)		GCTGATGCAGCTCATGCTGCC	0.373																																						ENST00000340645.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(8842-8844)gaG>gaA		golgin B1							164.0	153.0	157.0					3																	121400548		2203	4300	6503	SO:0001819	synonymous_variant	2804	0	0					g.chr3:121400548C>T	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.8844G>A	chr3.hg19:g.121400548C>T		0					GOLGB1_ENST00000393667.3_Silent_p.E2953E	p.E2948E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		15	8969	-			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	1	1	hg19	c.8844G>A	CCDS3004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_004487			110	106		500	497	0		1	1		0	0	135	0		1	1	0	79	0	195	0	110	500
GOLGB1	2804	broad.mit.edu	37	3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000340645.5	-	14	7921	c.7796A>C	c.(7795-7797)gAt>gCt	p.D2599A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2604A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2599					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)			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)		TTTAGATAAATCTTGTTTCTC	0.373																																						ENST00000340645.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(7795-7797)gAt>gCt		golgin B1							78.0	81.0	80.0					3																	121410400		2202	4300	6502	SO:0001583	missense	2804	0	0					g.chr3:121410400T>G	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.7796A>C	chr3.hg19:g.121410400T>G	ENSP00000341848:p.Asp2599Ala	0					GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2604A	p.D2599A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		14	7921	-			B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	1	1	hg19	c.7796A>C	CCDS3004.1	1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832790	0.02713	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.25	-1.15	0.09709	5.25	-1.15	0.09709	.	0.970057	0.08526	N	0.932793	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.01	B;B;B	0.16289	0.006;0.015;0.006	T	0.43798	-0.9369	10	0.13108	T	0.6	.	1.989	0.03442	0.1214:0.398:0.239:0.2416	.	2604;2604;2599	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2599;2604	ENSP00000341848:D2599A;ENSP00000377275:D2604A	ENSP00000341848:D2599A	D	-	2	0	0	GOLGB1	122893090	122893090	0.000000	0.05858	0.562000	0.28370	0.588000	0.36517	0.043000	0.13971	0.061000	0.16311	-0.242000	0.12053	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_004487			77	77		329	324	1		1	1		0	0	83	0		1	1	0	74	0	139	0	77	329
GOLGB1	2804	broad.mit.edu	37	3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000340645.5	-	13	5356	c.5231C>A	c.(5230-5232)tCt>tAt	p.S1744Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1749Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1744					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.S1744C(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)		AGACATTAAAGACTGAAACTT	0.383																																						ENST00000340645.5	1.000000	0.360000	7.000000e-01	4.500000e-01	0.560000	0.589080	0.560000	0.540000																										1	Substitution - Missense(1)	p.S1744C(1)	breast(1)	119						c.(5230-5232)tCt>tAt		golgin B1							112.0	109.0	110.0					3																	121414124		2203	4300	6503	SO:0001583	missense	2804	0	0					g.chr3:121414124G>T	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.5231C>A	chr3.hg19:g.121414124G>T	ENSP00000341848:p.Ser1744Tyr	0					GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1749Y	p.S1744Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		13	5356	-			B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	1	1	hg19	c.5231C>A	CCDS3004.1	0	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864786	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.45	5.62	0.644	0.17776	5.62	0.644	0.17776	.	0.851473	0.10173	N	0.706812	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	P;P;P;B	0.38711	0.643;0.643;0.643;0.4	B;B;B;B	0.34301	0.179;0.179;0.179;0.169	T	0.24154	-1.0168	10	0.62326	D	0.03	.	1.697	0.02864	0.1462:0.2559:0.3346:0.2633	.	1669;1749;1749;1744	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Y	1744;1749	ENSP00000341848:S1744Y;ENSP00000377275:S1749Y	ENSP00000341848:S1744Y	S	-	2	0	0	GOLGB1	122896814	122896814	0.004000	0.15560	0.023000	0.16930	0.006000	0.05464	0.999000	0.29757	-0.175000	0.10725	-0.309000	0.09137	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-19.999990	1	0.170000	NM_004487			25	25		513	507	0		1	1		0	0	111	0		9.999998e-01	9.679436e-01	0	4	0	113	0	25	513
GOLGB1	2804	broad.mit.edu	37	3	121414270	121414270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000340645.5	-	13	5210	c.5085G>A	c.(5083-5085)gaG>gaA	p.E1695E	GOLGB1_ENST00000393667.3_Silent_p.E1700E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1695					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)			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)		GCCGGTCATTCTCTTCTTCCA	0.438																																						ENST00000340645.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(5083-5085)gaG>gaA		golgin B1							234.0	236.0	235.0					3																	121414270		2203	4300	6503	SO:0001819	synonymous_variant	2804	0	0					g.chr3:121414270C>T	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.5085G>A	chr3.hg19:g.121414270C>T		0					GOLGB1_ENST00000393667.3_Silent_p.E1700E	p.E1695E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		13	5210	-			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	1	1	hg19	c.5085G>A	CCDS3004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_004487			188	184		940	919	1		1	1		0	0	191	0		1	1	0	77	0	118	0	188	940
GOLGB1	2804	broad.mit.edu	37	3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000340645.5	-	13	2146	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A679V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	674					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)			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)		ATCTGGTACAGCAGAAAGGGA	0.363																																						ENST00000340645.5	1.000000	0.690000	1	8.200000e-01	0.980000	0.933646	0.980000	1.000000																										0				119						c.(2020-2022)gCt>gTt		golgin B1							78.0	80.0	79.0					3																	121417334		2203	4299	6502	SO:0001583	missense	2804	0	0					g.chr3:121417334G>A	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.2021C>T	chr3.hg19:g.121417334G>A	ENSP00000341848:p.Ala674Val	0					GOLGB1_ENST00000393667.3_Missense_Mutation_p.A679V	p.A674V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	1	2	3	1.998468	Q14789	GOGB1_HUMAN		13	2146	-			B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	1	1	hg19	c.2021C>T	CCDS3004.1	1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458457	0.12342	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23552	2.49;2.49;1.9	4.36	-0.732	0.11147	4.36	-0.732	0.11147	.	0.415295	0.22857	N	0.054782	T	0.14485	0.0350	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.0	B;B;B;B;B	0.13407	0.002;0.009;0.002;0.007;0.002	T	0.13872	-1.0493	10	0.31617	T	0.26	.	3.3697	0.07216	0.2961:0.0:0.3445:0.3594	.	599;638;679;679;674	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	674;679;638;486	ENSP00000341848:A674V;ENSP00000377275:A679V;ENSP00000418231:A638V	ENSP00000341848:A674V	A	-	2	0	0	GOLGB1	122900024	122900024	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.123000	0.15708	-0.039000	0.13602	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_004487			33	32		367	363	1		1	1		0	0	51	0		1	9.958984e-01	0	10	0	86	0	33	367
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					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)			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)		GGCCTGCTTGGCCTTGGCTGC	0.502																																						ENST00000310864.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1645-1647)gCc>gTc		IQ motif containing B1							181.0	174.0	176.0					3																	121489343		2203	4300	6503	SO:0001583	missense	9657	0	0					g.chr3:121489343G>A	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.1646C>T	chr3.hg19:g.121489343G>A	ENSP00000311505:p.Ala549Val	0					IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	p.A549V	NM_001023570.2	NP_001018864.2	1	2	3	1.998468	Q15051	IQCB1_HUMAN		15	1860	-			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	1	1	hg19	c.1646C>T	CCDS33837.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	0	IQCB1	122972033	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	1	0	1		2	2	2	0		0	0	220		220	218	1	2.060000	-3.325023	1	0.170000	NM_014642			172	170		826	815	1		1	1		0	0	220	0		1	9.998907e-01	0	7	0	57	0	172	826
IQCB1	9657	broad.mit.edu	37	3	121509063	121509063	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1						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)			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)		TCGTTTGGATCTGTGATGGAA	0.318																																						ENST00000310864.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.e11-1		IQ motif containing B1							195.0	184.0	188.0					3																	121509063		2203	4300	6503	SO:0001630	splice_region_variant	9657	0	0					g.chr3:121509063C>A	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.987-1G>T	chr3.hg19:g.121509063C>A		0					IQCB1_ENST00000349820.6_Splice_Site		NM_001023570.2	NP_001018864.2	1	2	3	1.998468	Q15051	IQCB1_HUMAN		11	1201	-			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Splice_Site	SNP	ENST00000310864.6	1	1	hg19		CCDS33837.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667687	0.47677	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	5.02	0.67125	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0225	0.64565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	IQCB1	122991753	122991753	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.337000	0.52120	2.757000	0.94681	0.650000	0.86243	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_014642	Intron		148	147		667	660	1		1	1		0	0	137	0		1	3.344276e-02	0	2	0	0	0	148	667
CD86	942	broad.mit.edu	37	3	121810499	121810499	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000469710.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000264468.5_Splice_Site	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule						aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGCTCTCTGGTAAGAACCTTT	0.438																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e2+2		CD86 molecule	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)						281.0	268.0	273.0					3																	121810499		2203	4300	6503	SO:0001630	splice_region_variant	942	0	0					g.chr3:121810499T>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.64+2T>C	chr3.hg19:g.121810499T>C		0					CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000469710.1_Intron|CD86_ENST00000393627.2_Splice_Site		NM_175862.4	NP_787058	1	2	3	1.998468	P42081	CD86_HUMAN		2	180	+			A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Splice_Site	SNP	ENST00000330540.2	1	1	hg19		CCDS3009.1	1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831086	0.16820	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627;ENST00000478741	.	.	.	4.42	4.42	0.53409	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3554	0.43960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CD86	123293189	123293189	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.066000	0.50002	2.216000	0.71823	0.533000	0.62120	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	0	1		2	2	2	0		0	0	210		210	208	1	2.060000	-20.000000	1	0.170000	NM_006889	Intron		258	253		1134	1113	1		1	0	1	0	0	210	744		1	3.448018e-02	1	0	133	2	704	258	1134
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000498619.1_Silent_p.D216D|CASR_ENST00000296154.5_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	216					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.D216D(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)	CAGCTGATGACGACTATGGGC	0.537																																						ENST00000490131.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D216D(1)	endometrium(1)	84						c.(646-648)gaC>gaT		calcium-sensing receptor	Cinacalcet(DB01012)						125.0	134.0	131.0					3																	121980530		2203	4300	6503	SO:0001819	synonymous_variant	846	1	121412	38				g.chr3:121980530C>T	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.648C>T	chr3.hg19:g.121980530C>T		0					CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000498619.1_Silent_p.D216D	p.D216D	NM_000388.3	NP_000379	1	2	3	1.998468	P41180	CASR_HUMAN		4	1020	+			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	1	1	hg19	c.648C>T	CCDS3010.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1		2	2	2	0		0	0	176		176	175	1	2.060000	-20.000000	1	0.170000	NM_000388			164	159		728	711	1		1	0		0	0	176	0		1	3.802720e-01	0	0	0	7	0	164	728
CASR	846	broad.mit.edu	37	3	121980656	121980656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000490131.1	+	4	1146	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000498619.1_Silent_p.V258V|CASR_ENST00000296154.5_Silent_p.V258V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	258					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)			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)	TGGTAGAGGTGATTCAAAATT	0.498																																						ENST00000490131.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(772-774)gtG>gtA		calcium-sensing receptor	Cinacalcet(DB01012)						123.0	133.0	130.0					3																	121980656		2203	4300	6503	SO:0001819	synonymous_variant	846	0	0					g.chr3:121980656G>A	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.774G>A	chr3.hg19:g.121980656G>A		0					CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000498619.1_Silent_p.V258V	p.V258V	NM_000388.3	NP_000379	1	2	3	1.998468	P41180	CASR_HUMAN		4	1146	+			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	1	1	hg19	c.774G>A	CCDS3010.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-3.812187	1	0.170000	NM_000388			193	191		734	722	1		1	0		0	0	155	0		1	2.806088e-01	0	0	0	5	0	193	734
CASR	846	broad.mit.edu	37	3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000490131.1	+	7	2504	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.P721L|CASR_ENST00000296154.5_Missense_Mutation_p.P711L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	711					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)			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)	GCCAAGATCCCCACCAGCTTC	0.572																																						ENST00000490131.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(2131-2133)cCc>cTc		calcium-sensing receptor	Cinacalcet(DB01012)						63.0	57.0	59.0					3																	122002933		2203	4300	6503	SO:0001583	missense	846	0	0					g.chr3:122002933C>T	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.2132C>T	chr3.hg19:g.122002933C>T	ENSP00000418685:p.Pro711Leu	0					CASR_ENST00000296154.5_Missense_Mutation_p.P711L|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.P721L	p.P711L	NM_000388.3	NP_000379	1	2	3	1.998468	P41180	CASR_HUMAN		7	2504	+			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	1	1	hg19	c.2132C>T	CCDS3010.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373344	0.82573	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	721;711	E7ENE0;P41180	.;CASR_HUMAN	L	711;721;711	ENSP00000418685:P711L;ENSP00000420194:P721L;ENSP00000296154:P711L	ENSP00000296154:P711L	P	+	2	0	0	CASR	123485623	123485623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-2.963333	1	0.170000	NM_000388			66	66		292	286	1		1	0		0	0	50	0		1	7.923179e-01	0	0	0	15	0	66	292
CASR	846	broad.mit.edu	37	3	122003168	122003168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000490131.1	+	7	2739	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.F799F|CASR_ENST00000296154.5_Silent_p.F789F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	789					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)			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)	TCTGCTTCTTCTTTGCCTTCA	0.537																																						ENST00000490131.1	1.000000	0.310000	8.000000e-01	4.300000e-01	0.580000	0.616035	0.580000	0.550000																										0				84						c.(2365-2367)ttC>ttT		calcium-sensing receptor	Cinacalcet(DB01012)						44.0	43.0	43.0					3																	122003168		2203	4300	6503	SO:0001819	synonymous_variant	846	0	0					g.chr3:122003168C>T	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.2367C>T	chr3.hg19:g.122003168C>T		0					CASR_ENST00000296154.5_Silent_p.F789F|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.F799F	p.F789F	NM_000388.3	NP_000379	1	2	3	1.998468	P41180	CASR_HUMAN		7	2739	+			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	1	1	hg19	c.2367C>T	CCDS3010.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-14.376170	1	0.170000	NM_000388			12	12		240	237	0		1	0		0	0	48	0		9.991185e-01	2.495758e-02	0	0	0	5	0	12	240
FAM162A	26355	broad.mit.edu	37	3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000477892.1	+	4	383	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423																																						ENST00000477892.1	1.000000	0.730000	1	9.000000e-01	0.990000	0.965057	0.990000	1.000000																										0				6						c.(298-300)cGa>cAa		family with sequence similarity 162, member A							174.0	169.0	171.0					3																	122126163		1964	4167	6131	SO:0001583	missense	26355	0	0					g.chr3:122126163G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.299G>A	chr3.hg19:g.122126163G>A	ENSP00000419088:p.Arg100Gln	0					FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	p.R100Q	NM_014367.3	NP_055182.3	1	2	3	1.998468	Q96A26	F162A_HUMAN		4	383	+			Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	1	1	hg19	c.299G>A	CCDS43139.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378827	0.61735	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89095	3.005	0.41776	D	0.989797	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.82564	-0.0394	10	0.72032	D	0.01	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	100;100	E9PH05;Q96A26	.;F162A_HUMAN	Q	90;100;100;99	ENSP00000232125:R90Q;ENSP00000419088:R100Q;ENSP00000419491:R100Q	ENSP00000232125:R90Q	R	+	2	0	0	FAM162A	123608853	123608853	0.996000	0.38824	0.797000	0.32132	0.005000	0.04900	6.467000	0.73547	2.880000	0.98712	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.559126	1	0.170000	NM_014367			26	26		257	253	1		1	1		0	0	75	0		9.999999e-01	1	0	127	0	752	0	26	257
WDR5B	54554	broad.mit.edu	37	3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413																																						ENST00000330689.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(151-153)cCt>cAt		WD repeat domain 5B							195.0	191.0	192.0					3																	122134224		2203	4300	6503	SO:0001583	missense	54554	0	0					g.chr3:122134224G>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.152C>A	chr3.hg19:g.122134224G>T	ENSP00000330381:p.Pro51His	0					RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	p.P51H	NM_019069.3	NP_061942.2	1	2	3	1.998468	Q86VZ2	WDR5B_HUMAN		1	658	-			B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	1	1	hg19	c.152C>A	CCDS3012.1	1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934146	0.52866	.	.	ENSG00000196981	ENST00000330689	T	0.70516	-0.49	4.78	3.89	0.44902	4.78	3.89	0.44902	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	0.70657	0.3249	M	0.78456	2.415	0.80722	D	1	P	0.40180	0.705	B	0.38921	0.285	T	0.75528	-0.3286	10	0.72032	D	0.01	.	12.3839	0.55322	0.0:0.0:0.8302:0.1698	.	51	Q86VZ2	WDR5B_HUMAN	H	51	ENSP00000330381:P51H	ENSP00000330381:P51H	P	-	2	0	0	WDR5B	123616914	123616914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.334000	0.90028	1.354000	0.45846	-0.311000	0.09066	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	1	0	1		2	2	2	0		0	0	179		179	179	1	2.060000	-2.808236	1	0.170000	NM_019069			186	184		925	908	1		1	1		0	0	179	0		1	9.457477e-01	0	6	0	20	0	186	925
PARP9	83666	broad.mit.edu	37	3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T	rs368788105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000360356.2	-	4	567	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000462315.1_Missense_Mutation_p.L79M	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	114	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)		CTAGGAGTCAGCATTTTTCTG	0.473																																						ENST00000360356.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(340-342)Ctg>Atg		poly (ADP-ribose) polymerase family, member 9							96.0	83.0	87.0					3																	122274783		2203	4300	6503	SO:0001583	missense	83666	0	0					g.chr3:122274783G>T	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.340C>A	chr3.hg19:g.122274783G>T	ENSP00000353512:p.Leu114Met	0					PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000462315.1_Missense_Mutation_p.L79M	p.L114M	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	1	2	3	1.998468	Q8IXQ6	PARP9_HUMAN		4	567	-			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	1	1	hg19	c.340C>A	CCDS3014.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522233	0.44866	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.4	4.45	0.53987	5.4	4.45	0.53987	Appr-1-p processing (1);	0.000000	0.42420	D	0.000709	T	0.49064	0.1535	M	0.85630	2.765	0.48632	D	0.999689	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.77004	0.957;0.988;0.989	T	0.49399	-0.8944	10	0.51188	T	0.08	.	6.7817	0.23650	0.15:0.0:0.85:0.0	.	79;114;79	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	M	114;79;79;37;79;92	ENSP00000353512:L114M;ENSP00000419506:L79M;ENSP00000419001:L79M;ENSP00000418894:L79M;ENSP00000419626:L92M	ENSP00000353512:L114M	L	-	1	2	2	PARP9	123757473	123757473	0.895000	0.30542	0.532000	0.27989	0.141000	0.21300	1.443000	0.35057	2.818000	0.97014	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_031458			50	49		179	175	1		1	1		0	0	40	0		1	1	0	74	0	198	0	50	179
DTX3L	151636	broad.mit.edu	37	3	122288313	122288313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000296161.4	+	3	1566	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	459					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388																																						ENST00000296161.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1375-1377)ggC>ggT		deltex 3 like, E3 ubiquitin ligase							144.0	135.0	138.0					3																	122288313		2203	4300	6503	SO:0001819	synonymous_variant	151636	0	0					g.chr3:122288313C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1377C>T	chr3.hg19:g.122288313C>T		0					DTX3L_ENST00000383661.3_Intron	p.G459G	NM_138287.3	NP_612144.1	1	2	3	1.998468	Q8TDB6	DTX3L_HUMAN		3	1566	+			B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	1	1	hg19	c.1377C>T	CCDS3015.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_138287			105	105		531	524	1		1	1		0	0	143	0		1	1	0	55	0	174	0	105	531
PARP15	165631	broad.mit.edu	37	3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000464300.2	+	11	1738	c.1672T>G	c.(1672-1674)Ttc>Gtc	p.F558V	PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000483793.1_Missense_Mutation_p.F363V|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	558	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)		GAGACTCCTCTTCCATGGGAC	0.418																																						ENST00000464300.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1672-1674)Ttc>Gtc		poly (ADP-ribose) polymerase family, member 15							88.0	79.0	82.0					3																	122353966		2203	4300	6503	SO:0001583	missense	165631	0	0					g.chr3:122353966T>G	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.1672T>G	chr3.hg19:g.122353966T>G	ENSP00000417214:p.Phe558Val	0					PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000483793.1_Missense_Mutation_p.F363V	p.F558V	NM_001113523.1	NP_001106995.1	1	2	3	1.998468	Q460N3	PAR15_HUMAN		11	1738	+			J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	1	1	hg19	c.1672T>G	CCDS46893.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128775	0.77549	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.83	3.83	0.44106	3.83	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.62660	0.2446	H	0.97103	3.94	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	0.91635	0.998;0.996;0.989;0.999;0.998	T	0.74592	-0.3614	9	0.87932	D	0	.	11.5636	0.50792	0.0:0.0:0.0:1.0	.	255;324;305;363;536	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	V	558;363;305;324;255	ENSP00000417214:F558V;ENSP00000417785:F363V;ENSP00000308436:F324V;ENSP00000419488:F255V	ENSP00000308436:F324V	F	+	1	0	0	PARP15	123836656	123836656	1.000000	0.71417	0.924000	0.36721	0.989000	0.77384	7.617000	0.83032	1.609000	0.50190	0.533000	0.62120	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_152615			59	59		231	226	1		1	0		0	0	49	0		1	4.372317e-01	0	0	0	7	0	59	231
PARP14	54625	broad.mit.edu	37	3	122405935	122405935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	110					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)			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)		AGGAATCCAAGACCAAAGAAG	0.378																																						ENST00000474629.2	1.000000	0.430000	1	7.100000e-01	0.990000	0.896273	0.990000	1.000000																										0				50						c.(328-330)aaG>aaA		poly (ADP-ribose) polymerase family, member 14							92.0	86.0	88.0					3																	122405935		1863	4109	5972	SO:0001819	synonymous_variant	54625	0	0					g.chr3:122405935G>A	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.330G>A	chr3.hg19:g.122405935G>A		0						p.K110K	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		3	596	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	0	1	hg19	c.330G>A	CCDS46894.1	1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849109	0.02651	.	.	ENSG00000173193	ENST00000494811	.	.	.	5.05	2.18	0.27775	5.05	2.18	0.27775	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	3.4574	0.07521	0.0919:0.1566:0.5622:0.1894	.	.	.	.	N	119	.	.	D	+	1	0	0	PARP14	123888625	123888625	0.394000	0.25246	0.033000	0.17914	0.408000	0.30992	0.663000	0.25053	0.267000	0.21916	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-10.273830	1	0.170000	NM_017554			5	5		51	50	0		1	1		0	0	8	0		9.376105e-01	9.996965e-01	0	34	0	194	0	5	51
PARP14	54625	broad.mit.edu	37	3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	179					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)			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)		TCTAATGATGACTTTCAAGTG	0.373																																						ENST00000474629.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(535-537)gAc>gCc		poly (ADP-ribose) polymerase family, member 14							154.0	147.0	150.0					3																	122411328		1876	4108	5984	SO:0001583	missense	54625	0	0					g.chr3:122411328A>C	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.536A>C	chr3.hg19:g.122411328A>C	ENSP00000418194:p.Asp179Ala	0						p.D179A	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		4	802	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	1	1	hg19	c.536A>C	CCDS46894.1	1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563013	0.27915	.	.	ENSG00000173193	ENST00000474629	T	0.71934	-0.61	5.5	5.5	0.81552	5.5	5.5	0.81552	.	.	.	.	.	T	0.70535	0.3235	M	0.70275	2.135	0.45261	D	0.998264	B	0.20887	0.049	B	0.19666	0.026	T	0.69239	-0.5197	9	0.54805	T	0.06	.	14.5787	0.68271	1.0:0.0:0.0:0.0	.	179	Q460N5	PAR14_HUMAN	A	179	ENSP00000418194:D179A	ENSP00000420649:D20A	D	+	2	0	0	PARP14	123894018	123894018	0.999000	0.42202	0.595000	0.28798	0.005000	0.04900	3.070000	0.50033	2.308000	0.77769	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_017554			38	38		136	135	1		1	1		0	0	28	0		1	1	0	66	0	139	0	38	136
PARP14	54625	broad.mit.edu	37	3	122420074	122420074	+	Silent	SNP	G	G	A	rs369759529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	891	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)			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)		ATGAGGCCCCGAGGTGTGTGT	0.552																																						ENST00000474629.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				50						c.(2671-2673)ccG>ccA		poly (ADP-ribose) polymerase family, member 14		G		0,3864		0,0,1932	38.0	36.0	37.0		2673	0.1	0.0	3		37	1,8257		0,1,4128	no	coding-synonymous	PARP14	NM_017554.2		0,1,6060	AA,AG,GG		0.0121,0.0,0.0082		891/1802	122420074	1,12121	1932	4129	6061	SO:0001819	synonymous_variant	54625	2	120868	29				g.chr3:122420074G>A	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.2673G>A	chr3.hg19:g.122420074G>A		0						p.P891P	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		6	2939	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	1	1	hg19	c.2673G>A	CCDS46894.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_017554			21	21		97	95	1		1	1		0	0	24	0		9.999986e-01	1	0	62	0	174	0	21	97
PARP14	54625	broad.mit.edu	37	3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1087	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)			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)		CTGGACTGTCGCTATGTGCTT	0.537																																						ENST00000474629.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(3259-3261)cGc>cAc		poly (ADP-ribose) polymerase family, member 14							147.0	152.0	150.0					3																	122422767		2064	4198	6262	SO:0001583	missense	54625	1	121016	34				g.chr3:122422767G>A	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.3260G>A	chr3.hg19:g.122422767G>A	ENSP00000418194:p.Arg1087His	0						p.R1087H	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		7	3526	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	1	1	hg19	c.3260G>A	CCDS46894.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292300	0.40594	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24350	1.86	5.71	-8.83	0.00806	5.71	-8.83	0.00806	Appr-1-p processing (3);	3.195390	0.00424	N	0.000074	T	0.28067	0.0692	M	0.75884	2.315	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	10	0.49607	T	0.09	.	10.8773	0.46919	0.2551:0.2042:0.5407:0.0	.	1087;1087	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1087;1006;83	ENSP00000418194:R1087H	ENSP00000381224:R83H	R	+	2	0	0	PARP14	123905457	123905457	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-1.404000	0.02050	-0.793000	0.03317	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_017554			109	108		437	429	1		1	1		0	0	115	0		1	1	0	68	0	196	0	109	437
PARP14	54625	broad.mit.edu	37	3	122433238	122433238	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122433238A>C	ENST00000474629.2	+	12	4228	c.3962A>C	c.(3961-3963)aAa>aCa	p.K1321T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1321	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)			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)		TGTGAAAAAAAAAATTACTCA	0.433																																						ENST00000474629.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998114	0.990000	1.000000																										0				50						c.(3961-3963)aAa>aCa		poly (ADP-ribose) polymerase family, member 14							56.0	55.0	55.0					3																	122433238		1885	4107	5992	SO:0001583	missense	54625	0	0					g.chr3:122433238A>C	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.3962A>C	chr3.hg19:g.122433238A>C	ENSP00000418194:p.Lys1321Thr	0						p.K1321T	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		12	4228	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	1	0	hg19	c.3962A>C	CCDS46894.1	1	.	.	.	.	.	.	.	.	.	.	A	7.706	0.694120	0.15039	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24908	1.83	5.51	-1.77	0.07982	5.51	-1.77	0.07982	Appr-1-p processing (3);	1.276660	0.05270	N	0.517289	T	0.24736	0.0600	L	0.49126	1.545	0.09310	N	1	B;B	0.24317	0.007;0.101	B;B	0.35770	0.002;0.21	T	0.41251	-0.9519	10	0.15499	T	0.54	.	5.7315	0.18042	0.2248:0.0:0.2059:0.5693	.	1321;1321	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	1321;1240;317	ENSP00000418194:K1321T	ENSP00000381224:K317T	K	+	2	0	0	PARP14	123915928	123915928	0.000000	0.05858	0.018000	0.16275	0.327000	0.28475	-0.784000	0.04633	-0.101000	0.12219	-0.337000	0.08149	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_017554			24	24		166	165	1		1	1		0	0	44	0		9.999998e-01	1	0	107	0	236	0	24	166
PARP14	54625	broad.mit.edu	37	3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1669	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)			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)		ACTATGGATGCCAAGAATGGC	0.453																																						ENST00000474629.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(5005-5007)gCc>gTc		poly (ADP-ribose) polymerase family, member 14							62.0	63.0	62.0					3																	122446723		1909	4128	6037	SO:0001583	missense	54625	0	0					g.chr3:122446723C>T	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.5006C>T	chr3.hg19:g.122446723C>T	ENSP00000418194:p.Ala1669Val	0						p.A1669V	NM_017554.2	NP_060024.2	1	2	3	1.998468	Q460N5	PAR14_HUMAN		16	5272	+			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	1	1	hg19	c.5006C>T	CCDS46894.1	1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160607	0.38119	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10477	2.87	5.69	0.605	0.17553	5.69	0.605	0.17553	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.769194	0.11796	N	0.528684	T	0.09423	0.0232	L	0.60845	1.875	0.09310	N	1	P	0.36183	0.542	B	0.24006	0.05	T	0.20672	-1.0268	10	0.30078	T	0.28	.	10.1445	0.42755	0.6142:0.3129:0.0:0.0729	.	1669	Q460N5	PAR14_HUMAN	V	1669;1588;665	ENSP00000418194:A1669V	ENSP00000381224:A665V	A	+	2	0	0	PARP14	123929413	123929413	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-1.492000	0.02300	0.159000	0.19401	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_017554			38	37		147	146	1		1	1		0	0	46	0		1	1	0	120	0	320	0	38	147
HSPBAP1	79663	broad.mit.edu	37	3	122459627	122459627	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	344						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448																																						ENST00000306103.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1030-1032)atC>atA		HSPB (heat shock 27kDa) associated protein 1							173.0	163.0	166.0					3																	122459627		2203	4300	6503	SO:0001819	synonymous_variant	79663	0	0					g.chr3:122459627G>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1032C>A	chr3.hg19:g.122459627G>T		0					HSPBAP1_ENST00000383659.1_3'UTR	p.I344I	NM_024610.5	NP_078886.2	1	2	3	1.998468	Q96EW2	HBAP1_HUMAN		8	1175	-			Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	1	1	hg19	c.1032C>A	CCDS3017.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	0	0	0		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_024610			148	147		703	699	1		1	1		0	0	151	0		1	9.995640e-01	0	16	0	39	0	148	703
HSPBAP1	79663	broad.mit.edu	37	3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	329						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AAATGCAGAAACAGCTGCATT	0.388																																						ENST00000306103.2	1.000000	0.290000	5.800000e-01	3.700000e-01	0.460000	0.495590	0.460000	0.440000																										0				16						c.(985-987)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							107.0	103.0	104.0					3																	122459673		2203	4300	6503	SO:0001583	missense	79663	0	0					g.chr3:122459673A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.986T>G	chr3.hg19:g.122459673A>C	ENSP00000302562:p.Val329Gly	0					HSPBAP1_ENST00000383659.1_3'UTR	p.V329G	NM_024610.5	NP_078886.2	1	2	3	1.998468	Q96EW2	HBAP1_HUMAN		8	1129	-			Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	1	1	hg19	c.986T>G	CCDS3017.1	0	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907393	0.72868	.	.	ENSG00000169087	ENST00000306103	T	0.41758	0.99	5.38	5.38	0.77491	5.38	5.38	0.77491	Cupin, JmjC-type (1);	0.694163	0.14446	N	0.319061	T	0.54431	0.1858	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.52267	0.694	T	0.57464	-0.7807	10	0.87932	D	0	.	13.2584	0.60091	1.0:0.0:0.0:0.0	.	329	Q96EW2	HBAP1_HUMAN	G	329	ENSP00000302562:V329G	ENSP00000302562:V329G	V	-	2	0	0	HSPBAP1	123942363	123942363	0.983000	0.35010	0.092000	0.20876	0.984000	0.73092	3.869000	0.56062	2.264000	0.75181	0.533000	0.62120	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	0	0	0		2	2	2	0		0	0	96		96	95	1	2.060000	-4.305570	1	0.170000	NM_024610			23	23		580	567	0		1	1		0	0	96	0		9.999992e-01	5.176209e-01	0	3	0	41	0	23	580
HSPBAP1	79663	broad.mit.edu	37	3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393																																						ENST00000306103.2	1.000000	0.700000	1	8.600000e-01	0.990000	0.952475	0.990000	1.000000																										0				16						c.(664-666)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							92.0	84.0	87.0					3																	122474183		2203	4300	6503	SO:0001583	missense	79663	0	0					g.chr3:122474183A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.665T>G	chr3.hg19:g.122474183A>C	ENSP00000302562:p.Val222Gly	0					HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	p.V222G	NM_024610.5	NP_078886.2	1	2	3	1.998468	Q96EW2	HBAP1_HUMAN		5	808	-			Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	1	1	hg19	c.665T>G	CCDS3017.1	1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576601	0.86645	.	.	ENSG00000169087	ENST00000306103	T	0.25749	1.78	5.24	5.24	0.73138	5.24	5.24	0.73138	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.056069	0.64402	D	0.000001	T	0.51907	0.1702	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56251	-0.8010	10	0.59425	D	0.04	.	14.3887	0.66963	1.0:0.0:0.0:0.0	.	222	Q96EW2	HBAP1_HUMAN	G	222	ENSP00000302562:V222G	ENSP00000302562:V222G	V	-	2	0	0	HSPBAP1	123956873	123956873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.569000	0.90744	1.994000	0.58287	0.473000	0.43528	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-9.156934	1	0.170000	NM_024610			25	25		258	253	0		1	1		0	0	47	0		9.999998e-01	7.412766e-01	0	3	0	26	0	25	258
SEMA5B	54437	broad.mit.edu	37	3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R|SEMA5B_ENST00000195173.4_3'UTR	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	1079					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)		GTAGTGCAAATGGTTGGGGGT	0.532																																						ENST00000357599.3	1.000000	0.610000	1	7.300000e-01	0.870000	0.867547	0.870000	1.000000																										0				55						c.(3235-3237)cAt>cGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							94.0	91.0	92.0					3																	122629748		2203	4300	6503	SO:0001583	missense	54437	0	0					g.chr3:122629748T>C	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.3236A>G	chr3.hg19:g.122629748T>C	ENSP00000350215:p.His1079Arg	0					SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	p.H1079R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	1	2	3	1.998468	Q9P283	SEM5B_HUMAN		22	3622	-			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	1	1	hg19	c.3236A>G	CCDS35491.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.088454|4.088454	0.76756|0.76756	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541	T;T;T|.	0.33865|.	1.39;1.45;1.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.59357|.	0.982;0.985|.	P;P|.	0.59889|.	0.865;0.84|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.15066|.	T|.	0.55|.	.|.	13.7969|13.7969	0.63177|0.63177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	985;1079|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	R|V	1079;985;1133;1079|125	ENSP00000350215:H1079R;ENSP00000389588:H1133R;ENSP00000377208:H1079R|.	ENSP00000350215:H1079R|.	H|I	-|-	2|1	0|0	0|0	SEMA5B|SEMA5B	124112438|124112438	124112438|124112438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.309000|7.309000	0.78937|0.78937	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	CAT|ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_001031702			32	32		406	385	0		1	0		0	0	79	0		1	5.782313e-03	0	0	0	2	0	32	406
SEMA5B	54437	broad.mit.edu	37	3	122631763	122631763	+	Silent	SNP	C	C	T	rs370662105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000357599.3	-	18	3038	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_ENST00000451055.2_Silent_p.E938E|SEMA5B_ENST00000195173.4_Silent_p.E883E	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	884	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)		CGTTGCGGGGCTCCGGGTTAG	0.706																																						ENST00000357599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2650-2652)gaG>gaA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		C		0,4402		0,0,2201	35.0	44.0	41.0		2652	5.0	1.0	3		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		884/1152	122631763	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	54437	0	0					g.chr3:122631763C>T	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.2652G>A	chr3.hg19:g.122631763C>T		0					SEMA5B_ENST00000195173.4_Silent_p.E883E|SEMA5B_ENST00000451055.2_Silent_p.E938E	p.E884E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	1	2	3	1.998468	Q9P283	SEM5B_HUMAN		18	3038	-			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	1	1	hg19	c.2652G>A	CCDS35491.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.611684	1	0.170000	NM_001031702			88	88		355	343	1		1			0	0	52	0		1	0	0	0	0	0	0	88	355
SEMA5B	54437	broad.mit.edu	37	3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000357599.3	-	14	2290	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q	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	635					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)		GGATCGAGCTCGACACAGGCA	0.622																																						ENST00000357599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1903-1905)cGa>cAa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							71.0	68.0	69.0					3																	122634371		2203	4300	6503	SO:0001583	missense	54437	2	121412	36				g.chr3:122634371C>T	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.1904G>A	chr3.hg19:g.122634371C>T	ENSP00000350215:p.Arg635Gln	0					SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	p.R635Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	1	2	3	1.998468	Q9P283	SEM5B_HUMAN		14	2290	-			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	1	1	hg19	c.1904G>A	CCDS35491.1	1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626479	0.66901	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	3.97	0.46021	4.88	3.97	0.46021	.	0.056769	0.64402	N	0.000001	T	0.69269	0.3092	M	0.87381	2.88	0.58432	D	0.999992	D;B;B	0.89917	1.0;0.088;0.088	D;B;B	0.97110	1.0;0.05;0.05	T	0.71344	-0.4621	10	0.45353	T	0.12	.	10.3826	0.44121	0.0:0.8989:0.0:0.1011	.	577;635;635	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	635;635;577;689;635	ENSP00000350215:R635Q;ENSP00000195173:R635Q;ENSP00000389588:R689Q;ENSP00000377208:R635Q	ENSP00000195173:R635Q	R	-	2	0	0	SEMA5B	124117061	124117061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.785000	0.62418	1.180000	0.42898	0.561000	0.74099	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_001031702			54	52		216	213	1		1	0		0	0	56	0		1	0	0	0	0	1	0	54	216
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000451055.2_Silent_p.C442C|SEMA5B_ENST00000195173.4_Silent_p.C388C	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	388	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C388C(1)|p.C442C(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)		GGTTGAAGGCGCAGACAGCAG	0.592																																						ENST00000357599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.C388C(1)|p.C442C(1)	lung(2)	55						c.(1162-1164)tgC>tgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							106.0	102.0	104.0					3																	122642572		2203	4300	6503	SO:0001819	synonymous_variant	54437	3	121412	38				g.chr3:122642572G>A	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.1164C>T	chr3.hg19:g.122642572G>A		0					SEMA5B_ENST00000195173.4_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	p.C388C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	1	2	3	1.998468	Q9P283	SEM5B_HUMAN		10	1550	-			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	1	1	hg19	c.1164C>T	CCDS35491.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-3.092872	1	0.170000	NM_001031702			95	93		464	453	1		1	0		0	0	106	0		1	0	0	0	0	1	0	95	464
SEMA5B	54437	broad.mit.edu	37	3	122646797	122646797	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000357599.3	-	8	1076	c.690C>A	c.(688-690)ccC>ccA	p.P230P	SEMA5B_ENST00000451055.2_Silent_p.P284P|SEMA5B_ENST00000195173.4_Silent_p.P230P|AC078794.1_ENST00000408284.1_RNA	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	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)		GTGGGTCATAGGGGCAGCGGG	0.612																																						ENST00000357599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(688-690)ccC>ccA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							95.0	91.0	92.0					3																	122646797		2203	4300	6503	SO:0001819	synonymous_variant	54437	0	0					g.chr3:122646797G>T	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.690C>A	chr3.hg19:g.122646797G>T		0					SEMA5B_ENST00000195173.4_Silent_p.P230P|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Silent_p.P284P	p.P230P	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	1	2	3	1.998468	Q9P283	SEM5B_HUMAN		8	1076	-			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	1	1	hg19	c.690C>A	CCDS35491.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-2.931768	1	0.170000	NM_001031702			65	64		339	334	1		1	0		0	0	77	0		1	0	0	0	0	1	0	65	339
SEC22A	26984	broad.mit.edu	37	3	122978426	122978426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122978426G>A	ENST00000309934.4	+	5	1609	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y|SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	238					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACAGCAGCCTGCCTTTACCAG	0.333																																						ENST00000309934.4	1.000000	0.190000	7.900000e-01	3.200000e-01	0.510000	0.549734	0.510000	1.000000																										0				10						c.(712-714)tGc>tAc		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							81.0	80.0	80.0					3																	122978426		2203	4298	6501	SO:0001583	missense	26984	0	0					g.chr3:122978426G>A	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.713G>A	chr3.hg19:g.122978426G>A	ENSP00000310521:p.Cys238Tyr	0					SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T|SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y	p.C238Y	NM_012430.4	NP_036562.2	1	2	3	1.998468	Q96IW7	SC22A_HUMAN		5	1609	+			B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	0	1	hg19	c.713G>A	CCDS3021.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432005|3.432005	0.62844|0.62844	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000481965|ENST00000492595;ENST00000473494;ENST00000309934	.|T;T;T	.|0.20069	.|2.1;2.11;2.1	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34890|0.34890	0.0913|0.0913	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36733	.|0.567	.|B	.|0.42343	.|0.384	T|T	0.18650|0.18650	-1.0330|-1.0330	6|10	0.30854|0.87932	T|D	0.27|0	1.1136|1.1136	14.4762|14.4762	0.67548|0.67548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238	.|Q96IW7	.|SC22A_HUMAN	T|Y	80|238	.|ENSP00000417972:C238Y;ENSP00000420343:C238Y;ENSP00000310521:C238Y	ENSP00000420128:A80T|ENSP00000310521:C238Y	A|C	+|+	1|2	0|0	0|0	SEC22A|SEC22A	124461116|124461116	124461116|124461116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.568000|6.568000	0.73987|0.73987	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GCC|TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.937916	1	0.170000	NM_012430			5	5		123	120	0		1	1		0	0	30	0		9.348647e-01	9.291568e-01	0	8	0	113	0	5	123
ADCY5	111	broad.mit.edu	37	3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000462833.1	-	19	4667	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1152	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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)		GGCAAAGTCGGCCAGTGCCTT	0.552																																						ENST00000462833.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3454-3456)gCc>gTc		adenylate cyclase 5							164.0	143.0	151.0					3																	123008674		2203	4300	6503	SO:0001583	missense	111	0	0					g.chr3:123008674G>A	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.3455C>T	chr3.hg19:g.123008674G>A	ENSP00000419361:p.Ala1152Val	0					ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	p.A1152V	NM_183357.2	NP_899200.1	1	2	3	1.998468	O95622	ADCY5_HUMAN		19	4667	-			B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	1	1	hg19	c.3455C>T	CCDS3022.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.500461	0.96355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.25579	1.79;1.79;1.79	5.13	5.13	0.70059	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.39566	1.225	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.79108	0.531;0.992	T	0.04537	-1.0944	10	0.07644	T	0.81	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1152;810	O95622;B3KWA8	ADCY5_HUMAN;.	V	1152;810;802	ENSP00000419361:A1152V;ENSP00000418537:A810V;ENSP00000308685:A802V	ENSP00000308685:A802V	A	-	2	0	0	ADCY5	124491364	124491364	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	9.650000	0.98490	2.662000	0.90505	0.555000	0.69702	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	XM_171048			103	101		429	427	1		1	0		0	0	89	0		1	9.941680e-01	0	0	0	35	0	103	429
ADCY5	111	broad.mit.edu	37	3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000462833.1	-	8	3295	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	695					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)			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)		CTCACCATCCGCTTCATCTCC	0.627																																						ENST00000462833.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2083-2085)Cgg>Tgg		adenylate cyclase 5							76.0	75.0	76.0					3																	123044174		2203	4300	6503	SO:0001583	missense	111	0	0					g.chr3:123044174G>A	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.2083C>T	chr3.hg19:g.123044174G>A	ENSP00000419361:p.Arg695Trp	0					ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	p.R695W	NM_183357.2	NP_899200.1	1	2	3	1.998468	O95622	ADCY5_HUMAN		8	3295	-			B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	1	1	hg19	c.2083C>T	CCDS3022.1	1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930897	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	3.23	0.37069	5.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.82449	0.5039	L	0.55481	1.735	0.54753	D	0.999987	P;D	0.76494	0.797;0.999	B;P	0.61658	0.102;0.892	D	0.84288	0.0498	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:0.0:0.6016:0.3984	.	695;328	O95622;B3KWA8	ADCY5_HUMAN;.	W	695;328;345;254	ENSP00000419361:R695W;ENSP00000418537:R328W;ENSP00000308685:R345W;ENSP00000420082:R254W	ENSP00000308685:R345W	R	-	1	2	2	ADCY5	124526864	124526864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.795000	0.47861	1.377000	0.46286	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	XM_171048			95	92		375	368	1		1	0		0	0	102	0		1	7.713797e-01	0	0	0	13	0	95	375
ADCY5	111	broad.mit.edu	37	3	123047580	123047580	+	Silent	SNP	G	G	A	rs374468564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000462833.1	-	6	2928	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	572	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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)		CAAGGACACCGCAGTGTACTC	0.592											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000462833.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1714-1716)tgC>tgT		adenylate cyclase 5							178.0	139.0	152.0					3																	123047580		2203	4300	6503	SO:0001819	synonymous_variant	111	36	121412	46				g.chr3:123047580G>A	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.1716C>T	chr3.hg19:g.123047580G>A		0		OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1523	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	p.C572C	NM_183357.2	NP_899200.1	1	2	3	1.998468	O95622	ADCY5_HUMAN		6	2928	-			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	1	1	hg19	c.1716C>T	CCDS3022.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-3.426336	1	0.170000	XM_171048			80	77		354	347	1		1	0		0	0	105	0		1	9.988686e-01	0	0	0	47	0	80	354
ADCY5	111	broad.mit.edu	37	3	123049816	123049816	+	Silent	SNP	G	G	A	rs148753023	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000462833.1	-	5	2778	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	522	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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)		GCCCCGAGACGCAGTAATAAC	0.483													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19864	0.004		0.0	False		,,,				2504	0.0					ENST00000462833.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1564-1566)tgC>tgT		adenylate cyclase 5		G	,	1,4405	2.1+/-5.4	0,1,2202	79.0	71.0	74.0		516,1566	-4.6	0.9	3	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	172/912,522/1262	123049816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	111	21	121412	44				g.chr3:123049816G>A	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.1566C>T	chr3.hg19:g.123049816G>A		0					ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	p.C522C	NM_183357.2	NP_899200.1	1	2	3	1.998468	O95622	ADCY5_HUMAN		5	2778	-			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	1	1	hg19	c.1566C>T	CCDS3022.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.619807	1	0.170000	XM_171048			52	51		210	207	1		1	0		0	0	35	0		1	9.364573e-01	0	0	0	21	0	52	210
ADCY5	111	broad.mit.edu	37	3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000462833.1	-	4	2711	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	500	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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)		CTTGTCAAAGCGGGCGAAGAG	0.632																																						ENST00000462833.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1498-1500)cGc>cAc		adenylate cyclase 5							39.0	36.0	37.0					3																	123051430		2203	4300	6503	SO:0001583	missense	111	0	0					g.chr3:123051430C>T	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.1499G>A	chr3.hg19:g.123051430C>T	ENSP00000419361:p.Arg500His	0					ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	p.R500H	NM_183357.2	NP_899200.1	1	2	3	1.998468	O95622	ADCY5_HUMAN		4	2711	-			B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	1	1	hg19	c.1499G>A	CCDS3022.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.206509	0.95033	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.77	4.77	0.60923	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.92153	0.7512	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.94048	0.7315	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	500;133	O95622;B3KWA8	ADCY5_HUMAN;.	H	500;133;150;59;59	ENSP00000419361:R500H;ENSP00000418537:R133H;ENSP00000308685:R150H;ENSP00000420082:R59H;ENSP00000420252:R59H	ENSP00000308685:R150H	R	-	2	0	0	ADCY5	124534120	124534120	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	XM_171048			29	28		100	99	1		1	0		0	0	24	0		1	4.977134e-01	0	0	0	7	0	29	100
PTPLB	201562	broad.mit.edu	37	3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	175					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418																																						ENST00000383657.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999476	0.990000	1.000000																										0				2						c.(523-525)Ctg>Atg		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b							84.0	82.0	83.0					3																	123219521		1893	4114	6007	SO:0001583	missense	201562	0	0					g.chr3:123219521G>T	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.523C>A	chr3.hg19:g.123219521G>T	ENSP00000373153:p.Leu175Met	0						p.L175M	NM_198402.3	NP_940684.1	1	2	3	1.998468	Q6Y1H2	HACD2_HUMAN		6	680	-				Missense_Mutation	SNP	ENST00000383657.5	1	1	hg19	c.523C>A	CCDS46895.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291939|3.291939	0.59976|0.59976	.|.	.|.	ENSG00000206527|ENSG00000206527	ENST00000493515|ENST00000383657;ENST00000469317	.|T;T	.|0.53423	.|0.62;0.62	5.91|5.91	4.13|4.13	0.48395|0.48395	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68760|0.68760	0.3036|0.3036	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.71674	.|0.998	.|D	.|0.73380	.|0.98	T|T	0.71603|0.71603	-0.4543|-0.4543	5|10	.|0.66056	.|D	.|0.02	-7.5737|-7.5737	10.5981|10.5981	0.45349|0.45349	0.2203:0.0:0.7797:0.0|0.2203:0.0:0.7797:0.0	.|.	.|175	.|Q6Y1H2	.|HACD2_HUMAN	D|M	7|175;64	.|ENSP00000373153:L175M;ENSP00000419237:L64M	.|ENSP00000373153:L175M	A|L	-|-	2|1	0|2	0|2	PTPLB|PTPLB	124702211|124702211	124702211|124702211	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.086000|4.086000	0.57664|0.57664	0.847000|0.847000	0.35167|0.35167	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_198402			25	25		155	152	1		1	1		0	0	46	0		9.999999e-01	9.999991e-01	0	51	0	98	0	25	155
MYLK	4638	broad.mit.edu	37	3	123337592	123337592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000475616.1	-	30	5393	c.5394G>A	c.(5392-5394)gaG>gaA	p.E1798E	MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000360772.3_Silent_p.E1747E|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000359169.1_Silent_p.E1747E			Q15746	MYLK_HUMAN	myosin light chain kinase	1798					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443																																						ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(5392-5394)gaG>gaA		myosin light chain kinase							106.0	106.0	106.0					3																	123337592		2203	4300	6503	SO:0001819	synonymous_variant	4638	0	0					g.chr3:123337592C>T	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.5394G>A	chr3.hg19:g.123337592C>T		0					MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000360772.3_Silent_p.E1747E|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1798E	p.E1798E			1	2	3	1.998468	Q15746	MYLK_HUMAN		30	5393	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	1	1	hg19	c.5394G>A	CCDS46896.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_053025			75	74		347	340	0		1	0		0	0	98	0		1	1	0	0	0	347	0	75	347
MYLK	4638	broad.mit.edu	37	3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000475616.1	-	29	5298	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I			Q15746	MYLK_HUMAN	myosin light chain kinase	1767	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517																																						ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(5299-5301)Ctc>Atc		myosin light chain kinase							221.0	215.0	217.0					3																	123339123		2203	4300	6503	SO:0001583	missense	4638	0	0					g.chr3:123339123G>T	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.5299C>A	chr3.hg19:g.123339123G>T	ENSP00000418335:p.Leu1767Ile	0					MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I	p.L1767I			1	2	3	1.998468	Q15746	MYLK_HUMAN		29	5298	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.5299C>A	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629067	0.46944	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67345	-0.19;-0.26;-0.19;0.16;-0.25;-0.02;-0.26	5.24	5.24	0.73138	5.24	5.24	0.73138	Protein kinase-like domain (1);	.	.	.	.	T	0.50429	0.1615	N	0.12182	0.205	0.33631	D	0.60607	B;P;B;P;B;B	0.43578	0.295;0.811;0.259;0.68;0.195;0.012	B;B;B;B;B;B	0.40534	0.132;0.332;0.099;0.21;0.062;0.002	T	0.62348	-0.6873	9	0.36615	T	0.2	.	14.8475	0.70270	0.0:0.0:0.8475:0.1524	.	1767;1647;1716;1698;1767;80	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1716;1767;1716;7;1698;567;1767	ENSP00000354004:L1716I;ENSP00000353452:L1767I;ENSP00000352088:L1716I;ENSP00000428967:L7I;ENSP00000320622:L1698I;ENSP00000346846:L567I;ENSP00000418335:L1767I	ENSP00000320622:L1698I	L	-	1	0	0	MYLK	124821813	124821813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.449000	0.52950	2.720000	0.93068	0.557000	0.71058	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	219		219	216	1	2.060000	-20.000000	1	0.170000	NM_053025			202	196		924	893	1		1	1		0	0	219	0		1	1	0	4	0	426	0	202	924
MYLK	4638	broad.mit.edu	37	3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000475616.1	-	27	5092	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	1698	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)			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)		CTTCAGCAGATTGCTGATGAA	0.493																																						ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(5092-5094)aAt>aCt		myosin light chain kinase							134.0	122.0	126.0					3																	123348342		2203	4300	6503	SO:0001583	missense	4638	0	0					g.chr3:123348342T>G	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.5093A>C	chr3.hg19:g.123348342T>G	ENSP00000418335:p.Asn1698Thr	0					MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T	p.N1698T			1	2	3	1.998468	Q15746	MYLK_HUMAN		27	5092	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.5093A>C	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800906	0.50315	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	-3.02	0.05446	5.65	-3.02	0.05446	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	0.60235	0.2253	N	0.13043	0.29	0.24979	N	0.991617	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.962;0.938;0.969	T	0.59579	-0.7428	9	0.44086	T	0.13	.	13.1719	0.59604	0.0:0.542:0.0:0.458	.	1698;1629;1698	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1698;1629;498;1698	ENSP00000353452:N1698T;ENSP00000320622:N1629T;ENSP00000346846:N498T;ENSP00000418335:N1698T	ENSP00000320622:N1629T	N	-	2	0	0	MYLK	124831032	124831032	0.841000	0.29509	0.016000	0.15963	0.503000	0.33858	0.656000	0.24948	-0.692000	0.05128	-0.904000	0.02843	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_053025			69	69		281	278	1		1	1		0	0	60	0		1	1	0	9	0	290	0	69	281
MYLK	4638	broad.mit.edu	37	3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000475616.1	-	23	4381	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000360772.3_Missense_Mutation_p.S1461F|MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F			Q15746	MYLK_HUMAN	myosin light chain kinase	1461					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512																																						ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(4381-4383)tCt>tTt		myosin light chain kinase							236.0	212.0	220.0					3																	123367851		2203	4300	6503	SO:0001583	missense	4638	0	0					g.chr3:123367851G>A	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.4382C>T	chr3.hg19:g.123367851G>A	ENSP00000418335:p.Ser1461Phe	0					MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000360772.3_Missense_Mutation_p.S1461F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F	p.S1461F			1	2	3	1.998468	Q15746	MYLK_HUMAN		23	4381	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.4382C>T	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506591	0.64410	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.82	4.82	0.62117	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.36762	D	0.883317	P;D;P;P;P	0.53885	0.828;0.963;0.895;0.936;0.736	P;P;P;P;B	0.46940	0.532;0.528;0.532;0.528;0.332	T	0.17561	-1.0365	9	0.12766	T	0.61	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1461;1392;1461;1392;1461	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1461;1461;1461;1392;261;1461	ENSP00000354004:S1461F;ENSP00000353452:S1461F;ENSP00000352088:S1461F;ENSP00000320622:S1392F;ENSP00000346846:S261F;ENSP00000418335:S1461F	ENSP00000320622:S1392F	S	-	2	0	0	MYLK	124850541	124850541	0.994000	0.37717	0.999000	0.59377	0.908000	0.53690	4.640000	0.61368	2.370000	0.80446	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_053025			113	109		486	482	1		1	0		0	0	123	0		1	1	0	1	0	391	0	113	486
MYLK	4638	broad.mit.edu	37	3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A	rs189757903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000475616.1	-	16	3535	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000510775.1_5'UTR|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000360772.3_Missense_Mutation_p.A1179V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase	1179	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17009	0.0		0.0	False		,,,				2504	0.0					ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(3535-3537)gCg>gTg		myosin light chain kinase							94.0	71.0	79.0					3																	123411611		2203	4300	6503	SO:0001583	missense	4638	2	121412	31				g.chr3:123411611G>A	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.3536C>T	chr3.hg19:g.123411611G>A	ENSP00000418335:p.Ala1179Val	0					MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1179V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V	p.A1179V			1	2	3	1.998468	Q15746	MYLK_HUMAN		16	3535	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.3536C>T	CCDS46896.1	1	40	0.018315018315018316	14	0.028455284552845527	1	0.0027624309392265192	11	0.019230769230769232	14	0.018469656992084433	G	32	5.185768	0.94885	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.03	5.03	0.67393	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.991;0.992;0.997;0.997;0.996	P;P;P;P;D;D	0.65874	0.857;0.639;0.704;0.857;0.939;0.932	T	0.62886	-0.6759	9	0.07813	T	0.8	.	15.8618	0.79032	0.0:0.0:1.0:0.0	.	1179;257;1110;1179;1110;1179	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	V	1179;1179;1179;1110;1179	ENSP00000354004:A1179V;ENSP00000353452:A1179V;ENSP00000352088:A1179V;ENSP00000320622:A1110V;ENSP00000418335:A1179V	ENSP00000320622:A1110V	A	-	2	0	0	MYLK	124894301	124894301	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.439000	0.73430	2.514000	0.84764	0.563000	0.77884	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		19	2	2	0		0	1	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_053025			65	65		282	278	1		1	0		0	0	60	0		1	1	0	1	0	257	0	65	282
MYLK	4638	broad.mit.edu	37	3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000475616.1	-	12	2098	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000360772.3_Missense_Mutation_p.S700N|MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase	700	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602																																						ENST00000475616.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(2098-2100)aGc>aAc		myosin light chain kinase							75.0	70.0	72.0					3																	123427586		2203	4300	6503	SO:0001583	missense	4638	0	0					g.chr3:123427586C>T	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.2099G>A	chr3.hg19:g.123427586C>T	ENSP00000418335:p.Ser700Asn	0					MYLK_ENST00000360772.3_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000360304.3_Missense_Mutation_p.S700N	p.S700N			1	2	3	1.998468	Q15746	MYLK_HUMAN		12	2098	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.2099G>A	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865819	0.71949	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.46	4.46	0.54185	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65984	0.2744	M	0.69463	2.115	0.80722	D	1	P;P;P;P;P	0.50443	0.734;0.806;0.837;0.935;0.775	B;B;B;P;P	0.46825	0.373;0.425;0.373;0.528;0.507	T	0.65533	-0.6145	9	0.36615	T	0.2	.	8.9041	0.35512	0.0:0.8614:0.0:0.1386	.	700;631;700;631;700	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	700;700;700;631;700	ENSP00000354004:S700N;ENSP00000353452:S700N;ENSP00000352088:S700N;ENSP00000320622:S631N;ENSP00000418335:S700N	ENSP00000320622:S631N	S	-	2	0	0	MYLK	124910276	124910276	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	4.971000	0.63749	2.453000	0.82957	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_053025			70	69		335	330	1		1	1		0	0	91	0		1	8.617135e-01	0	2	0	17	0	70	335
MYLK	4638	broad.mit.edu	37	3	123440981	123440981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123440981C>T	ENST00000475616.1	-	10	1797	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000360772.3_Missense_Mutation_p.V600I|MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I			Q15746	MYLK_HUMAN	myosin light chain kinase	600					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTACCATGGACGGTGACCCAG	0.582																																						ENST00000475616.1	1.000000	0.510000	1	8.800000e-01	0.990000	0.945908	0.990000	1.000000																										0				113						c.(1798-1800)Gtc>Atc		myosin light chain kinase							14.0	12.0	12.0					3																	123440981		2193	4285	6478	SO:0001583	missense	4638	2	118192	32				g.chr3:123440981C>T	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.1798G>A	chr3.hg19:g.123440981C>T	ENSP00000418335:p.Val600Ile	0					MYLK_ENST00000360772.3_Missense_Mutation_p.V600I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000360304.3_Missense_Mutation_p.V600I	p.V600I			1	2	3	1.998468	Q15746	MYLK_HUMAN		10	1797	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	0	1	hg19	c.1798G>A	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770011	0.15983	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.53	2.83	0.33086	5.53	2.83	0.33086	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83972	0.5370	M	0.83118	2.625	0.44485	D	0.997425	B;D;D;B;B	0.76494	0.204;0.999;0.994;0.432;0.243	B;D;P;B;B	0.79784	0.049;0.993;0.685;0.1;0.081	T	0.80509	-0.1351	9	0.25751	T	0.34	.	10.3436	0.43893	0.0:0.7826:0.0:0.2174	.	600;531;600;531;600	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	600;600;600;531;600	ENSP00000354004:V600I;ENSP00000353452:V600I;ENSP00000352088:V600I;ENSP00000320622:V531I;ENSP00000418335:V600I	ENSP00000320622:V531I	V	-	1	0	0	MYLK	124923671	124923671	0.937000	0.31787	0.064000	0.19789	0.143000	0.21401	1.837000	0.39201	0.324000	0.23333	-0.995000	0.02519	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-10.136150	1	0.170000	NM_053025			4	4		28	27	0		1	0		0	0	9	0		8.870950e-01	5.874047e-01	0	1	0	13	0	4	28
MYLK	4638	broad.mit.edu	37	3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000475616.1	-	7	1021	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000360772.3_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase	341					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622																																						ENST00000475616.1	1.000000	0.680000	1	7.800000e-01	0.900000	0.896489	0.900000	1.000000																										0				113						c.(1021-1023)aCt>aAt		myosin light chain kinase							62.0	68.0	66.0					3																	123452821		2203	4300	6503	SO:0001583	missense	4638	0	0					g.chr3:123452821G>T	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.1022C>A	chr3.hg19:g.123452821G>T	ENSP00000418335:p.Thr341Asn	0					MYLK_ENST00000360772.3_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_Missense_Mutation_p.T341N	p.T341N			1	2	3	1.998468	Q15746	MYLK_HUMAN		7	1021	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.1022C>A	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322766	0.41096	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.26;-0.2;-0.26;-0.3;-0.2	5.43	4.55	0.56014	5.43	4.55	0.56014	.	.	.	.	.	T	0.60340	0.2261	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P	0.48407	0.91;0.288;0.91;0.288;0.855	P;B;P;B;P	0.50791	0.65;0.22;0.65;0.22;0.448	T	0.54866	-0.8229	9	0.16896	T	0.51	.	11.3941	0.49832	0.0844:0.0:0.9156:0.0	.	341;341;341;341;341	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	341	ENSP00000354004:T341N;ENSP00000353452:T341N;ENSP00000352088:T341N;ENSP00000320622:T341N;ENSP00000418335:T341N	ENSP00000320622:T341N	T	-	2	0	0	MYLK	124935511	124935511	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.146000	0.50631	1.520000	0.48965	0.655000	0.94253	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_053025			51	51		621	609	0		1	0		0	0	110	0		1	5.794822e-01	0	0	0	25	0	51	621
CCDC14	64770	broad.mit.edu	37	3	123665936	123665936	+	Silent	SNP	T	T	C	rs373769754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000488653.2	-	8	1149	c.1059A>G	c.(1057-1059)acA>acG	p.T353T	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000485727.1_Silent_p.T153T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	353					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413																																						ENST00000488653.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1057-1059)acA>acG		coiled-coil domain containing 14							174.0	163.0	167.0					3																	123665936		2203	4300	6503	SO:0001819	synonymous_variant	64770	0	0					g.chr3:123665936T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1059A>G	chr3.hg19:g.123665936T>C		0					CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000485727.1_Silent_p.T153T|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000483247.1_Intron	p.T353T			1	2	3	1.998468	Q49A88	CCD14_HUMAN		8	1149	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	1	1	hg19	c.1059A>G		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_022757			96	94		511	496	1		1	1		0	0	135	0		1	9.652498e-01	0	4	0	27	0	96	511
ROPN1	54763	broad.mit.edu	37	3	123699239	123699239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123699239C>T	ENST00000184183.4	-	3	430	c.90G>A	c.(88-90)ccG>ccA	p.P30P	ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000479867.1_Silent_p.P30P	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	30	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGAGGTCCTGCGGCTGCACCC	0.592																																						ENST00000184183.4	1.000000	0.150000	4.300000e-01	2.200000e-01	0.300000	0.351921	0.300000	0.290000																										0				4						c.(88-90)ccG>ccA		rhophilin associated tail protein 1																																				SO:0001819	synonymous_variant	54763	2	121412	33				g.chr3:123699239C>T	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.90G>A	chr3.hg19:g.123699239C>T		0					ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000479867.1_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P	p.P30P	NM_017578.2	NP_060048.2	1	2	3	1.998468	Q9HAT0	ROP1A_HUMAN		3	430	-			D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	1	1	hg19	c.90G>A	CCDS3026.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	0	0	1		2	2	2	0		0	0	85		85	81	1	2.060000	-3.115955	1	0.170000	NM_017578			11	11		435	422	0		1			0	0	85	0		9.980855e-01	0	0	0	0	0	0	11	435
KALRN	8997	broad.mit.edu	37	3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000240874.3	+	9	1680	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000360013.3_Missense_Mutation_p.L508P|KALRN_ENST00000460856.1_Missense_Mutation_p.L508P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGGTGCTGGACGTGGTG	0.627																																						ENST00000240874.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1522-1524)cTg>cCg		kalirin, RhoGEF kinase							83.0	83.0	83.0					3																	124053224		2203	4300	6503	SO:0001583	missense	8997	0	0					g.chr3:124053224T>C	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.1523T>C	chr3.hg19:g.124053224T>C	ENSP00000240874:p.Leu508Pro	0					KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000360013.3_Missense_Mutation_p.L508P	p.L508P	NM_003947.4	NP_003938.1	1	2	3	1.998468	O60229	KALRN_HUMAN		9	1680	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	1	1	hg19	c.1523T>C	CCDS3027.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.102396|4.102396	0.76983|0.76983	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62105|.	0.05;0.05;0.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.74574|0.74574	0.3734|0.3734	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.81914|.	0.961;0.995;0.983|.	T|T	0.75693|0.75693	-0.3229|-0.3229	10|5	0.48119|.	T|.	0.1|.	.|.	15.1227|15.1227	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	508|486	ENSP00000418611:L508P;ENSP00000240874:L508P;ENSP00000353109:L508P|.	ENSP00000240874:L508P|.	L|W	+|+	2|1	0|0	0|0	KALRN|KALRN	125535914|125535914	125535914|125535914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	7.825000|7.825000	0.86693|0.86693	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_003947			100	101		517	509	1		1	0	1	0	0	95	1103		1	5.000283e-01	1	1	203	8	957	100	517
KALRN	8997	broad.mit.edu	37	3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000240874.3	+	13	2450	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000360013.3_Missense_Mutation_p.L765M|KALRN_ENST00000460856.1_Missense_Mutation_p.L765M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	765					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGATCAAGCTGGACATCTT	0.597																																						ENST00000240874.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2293-2295)Ctg>Atg		kalirin, RhoGEF kinase							100.0	81.0	88.0					3																	124117671		2203	4300	6503	SO:0001583	missense	8997	0	0					g.chr3:124117671C>A	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.2293C>A	chr3.hg19:g.124117671C>A	ENSP00000240874:p.Leu765Met	0					KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000360013.3_Missense_Mutation_p.L765M	p.L765M	NM_003947.4	NP_003938.1	1	2	3	1.998468	O60229	KALRN_HUMAN		13	2450	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	1	1	hg19	c.2293C>A	CCDS3027.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.038179|5.038179	0.93630|0.93630	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	D;D;D|.	0.89681|.	-2.55;-2.55;-2.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.994;1.0|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.48119|.	T|.	0.1|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	765;111;765;765|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	M|R	765|742	ENSP00000418611:L765M;ENSP00000240874:L765M;ENSP00000353109:L765M|.	ENSP00000240874:L765M|.	L|S	+|+	1|3	2|2	2|2	KALRN|KALRN	125600361|125600361	125600361|125600361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_003947			76	74		326	315	1		1	0	1	0	0	89	1183		1	8.780995e-01	1	0	195	18	969	76	326
KALRN	8997	broad.mit.edu	37	3	124149506	124149506	+	Silent	SNP	C	C	T	rs138919966	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000240874.3	+	16	2864	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000360013.3_Silent_p.L903L|KALRN_ENST00000460856.1_Silent_p.L903L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	903					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCCTAGGTTCTGGGATGGAT	0.567													C|||	12	0.00239617	0.0	0.0	5008	,	,		21582	0.0109		0.0	False		,,,				2504	0.001					ENST00000240874.3	1.000000	0.800000	1	9.800000e-01	0.990000	0.982942	0.990000	1.000000																										0				83						c.(2707-2709)Ctg>Ttg		kalirin, RhoGEF kinase							97.0	80.0	86.0					3																	124149506		2203	4300	6503	SO:0001819	synonymous_variant	8997	72	121412	49				g.chr3:124149506C>T	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.2707C>T	chr3.hg19:g.124149506C>T		0					KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000360013.3_Silent_p.L903L	p.L903L	NM_003947.4	NP_003938.1	1	2	3	1.998468	O60229	KALRN_HUMAN		16	2864	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	1	1	hg19	c.2707C>T	CCDS3027.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.318794	1	0.170000	NM_003947			25	25		223	220	0		1	0	1	0	0	41	522		9.999999e-01	2.400948e-01	1	1	80	8	558	25	223
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000240874.3	+	32	4977	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I|KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507																																						ENST00000240874.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(4819-4821)aGt>aTt		kalirin, RhoGEF kinase							100.0	110.0	107.0					3																	124211723		2203	4300	6503	SO:0001583	missense	8997	0	0					g.chr3:124211723G>T	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.4820G>T	chr3.hg19:g.124211723G>T	ENSP00000240874:p.Ser1607Ile	0					KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I	p.S1607I	NM_003947.4	NP_003938.1	1	2	3	1.998468	O60229	KALRN_HUMAN		32	4977	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	1	1	hg19	c.4820G>T	CCDS3027.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680189|2.680189	0.47886|0.47886	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;P|.	0.46512|.	0.042;0.421;0.879|.	B;B;B|.	0.43103|.	0.016;0.079;0.408|.	T|T	0.50857|0.50857	-0.8778|-0.8778	10|5	0.49607|.	T|.	0.09|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	I|L	1598;1607;1607|1576	ENSP00000418611:S1598I;ENSP00000240874:S1607I;ENSP00000353109:S1607I|.	ENSP00000240874:S1607I|.	S|V	+|+	2|1	0|0	0|0	KALRN|KALRN	125694413|125694413	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_003947			69	68		256	249	1		1	0	1	0	0	68	252		1	9.311675e-01	1	0	68	19	230	69	256
KALRN	8997	broad.mit.edu	37	3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000393496.1	+	2	259	c.95C>T	c.(94-96)gCg>gTg	p.A32V	KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1659					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCAGTGCGGGCCACAGC	0.637																																						ENST00000393496.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(94-96)gCg>gTg		kalirin, RhoGEF kinase							27.0	30.0	29.0					3																	124281736		2035	4210	6245	SO:0001583	missense	8997	3	120986	30				g.chr3:124281736C>T	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	ENST00000393496.1:c.95C>T	chr3.hg19:g.124281736C>T	ENSP00000377134:p.Ala32Val	0					KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V	p.A32V			1	2	3	1.998468	O60229	KALRN_HUMAN		2	259	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000393496.1	1	1	hg19	c.95C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399885|3.399885	0.62177|0.62177	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.73047|.	-0.71;0.29|.	4.84|4.84	3.95|3.95	0.45737|0.45737	4.84|4.84	3.95|3.95	0.45737|0.45737	Src homology-3 domain (3);|.	0.316165|.	0.28317|.	N|.	0.015790|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.66716|.	0.946;0.413|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.87932|.	D|.	0|.	.|.	15.1527|15.1527	0.72713|0.72713	0.0:0.8582:0.1418:0.0|0.0:0.8582:0.1418:0.0	.|.	32;1659|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	V|W	1659;32|1628	ENSP00000353109:A1659V;ENSP00000377134:A32V|.	ENSP00000353109:A1659V|.	A|R	+|+	2|1	0|2	0|2	KALRN|KALRN	125764426|125764426	125764426|125764426	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.212000|0.212000	0.24457|0.24457	7.606000|7.606000	0.82863|0.82863	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	1	0	1		2	2	9	0		0	0	28		28	27	1	2.060000	-3.361097	1	0.170000	NM_003947			33	31		131	129	1		1	0	1	0	3	28	1238		1	6.831350e-01	1	1	239	10	1004	33	131
KALRN	8997	broad.mit.edu	37	3	124380766	124380766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000393496.1_Silent_p.Q452Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000360013.3_Silent_p.Q2111Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2110					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGTCTGCAGGGCTTTGAGG	0.507																																						ENST00000291478.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1240-1242)caG>caA		kalirin, RhoGEF kinase							177.0	153.0	161.0					3																	124380766		2203	4300	6503	SO:0001819	synonymous_variant	8997	0	0					g.chr3:124380766G>A	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.1242G>A	chr3.hg19:g.124380766G>A		0					KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	p.Q414Q	NM_007064.3	NP_008995.2	1	2	3	1.998468	O60229	KALRN_HUMAN		12	1405	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	1	1	hg19	c.1242G>A	CCDS3028.1	1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204068	0.09704	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.29	2.42	0.29668	5.29	2.42	0.29668	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	.	11.6186	0.51104	0.3065:0.0:0.6935:0.0	.	.	.	.	K	2080	.	.	R	+	2	0	0	KALRN	125863456	125863456	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	2.303000	0.43646	0.072000	0.16694	-1.945000	0.00491	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	1	0	1		2	2	6	0		0	0	107		107	106	1	2.060000	-2.853827	1	0.170000	NM_003947			94	93		467	458	0		1	1	1	0	1	107	1002		1	9.984809e-01	1	13	193	37	830	94	467
KALRN	8997	broad.mit.edu	37	3	124413187	124413187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000291478.5	+	20	2486	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2471					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCCCCAGAATTCCTTGT	0.458																																						ENST00000291478.5	1.000000	0.140000	3.800000e-01	2.000000e-01	0.270000	0.323406	0.270000	0.260000																										0				83						c.(2323-2325)Gaa>Taa		kalirin, RhoGEF kinase							152.0	141.0	145.0					3																	124413187		2203	4300	6503	SO:0001587	stop_gained	8997	0	0					g.chr3:124413187G>T	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.2323G>T	chr3.hg19:g.124413187G>T	ENSP00000291478:p.Glu775*	0					KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*	p.E775*	NM_007064.3	NP_008995.2	1	2	3	1.998468	O60229	KALRN_HUMAN		20	2486	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	0	1	hg19	c.2323G>T	CCDS3028.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.291176|9.291176	0.99127|0.99127	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76300	.|0.3968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73366	.|-0.4005	.|3	0.07175|.	T|.	0.84|.	.|.	18.8398|18.8398	0.92177|0.92177	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	2472;775;743|2440	.|.	ENSP00000291478:E775X|.	E|Q	+|+	1|3	0|2	0|2	KALRN|KALRN	125895877|125895877	125895877|125895877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.739000|8.739000	0.91574|0.91574	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	0	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-2.629855	1	0.170000	NM_003947			12	12		524	513	0		1	0	1	0	0	104	495		9.990139e-01	5.935240e-03	9.988408e-01	0	8	5	503	12	524
KALRN	8997	broad.mit.edu	37	3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2514					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTGACACTGATAACAGCTCA	0.537																																						ENST00000291478.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2452-2454)gAt>gCt		kalirin, RhoGEF kinase							148.0	129.0	136.0					3																	124413317		2203	4300	6503	SO:0001583	missense	8997	0	0					g.chr3:124413317A>C	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.2453A>C	chr3.hg19:g.124413317A>C	ENSP00000291478:p.Asp818Ala	0					KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Missense_Mutation_p.D786A	p.D818A	NM_007064.3	NP_008995.2	1	2	3	1.998468	O60229	KALRN_HUMAN		20	2616	+			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	1	1	hg19	c.2453A>C	CCDS3028.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529633|4.529633	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63255|.	-0.03;0.02;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.119778|.	0.56097|.	D|.	0.000030|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.16368|0.16368	0.405|0.405	0.34787|0.34787	D|D	0.735332|0.735332	B;B|.	0.25441|.	0.126;0.033|.	B;B|.	0.31946|.	0.138;0.042|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.54805|.	T|.	0.06|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	818;2514|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2515;818;786|2484	ENSP00000353109:D2515A;ENSP00000291478:D818A;ENSP00000402419:D786A|.	ENSP00000291478:D818A|.	D|I	+|+	2|1	0|0	0|0	KALRN|KALRN	125896007|125896007	125896007|125896007	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	4.526000|4.526000	0.60566|0.60566	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_003947			71	71		385	380	1		1	0	1	0	0	97	599		1	1.197992e-01	1	0	105	4	499	71	385
UMPS	7372	broad.mit.edu	37	3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_Intron|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	91	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ACCAATCAAATTCCAATGCTT	0.348																																						ENST00000232607.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999855	0.990000	1.000000																										0				16						c.(271-273)aTt>aCt		uridine monophosphate synthetase	Fluorouracil(DB00544)						78.0	68.0	72.0					3																	124454055		2203	4300	6503	SO:0001583	missense	7372	1	121412	29				g.chr3:124454055T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.272T>C	chr3.hg19:g.124454055T>C	ENSP00000232607:p.Ile91Thr	0					UMPS_ENST00000538242.1_Intron|UMPS_ENST00000413078.2_Intron|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000536109.1_5'UTR	p.I91T	NM_000373.3	NP_000364.1	1	2	3	1.998468	P11172	UMPS_HUMAN		2	378	+			B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	1	1	hg19	c.272T>C	CCDS3029.1	1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121934	0.56613	.	.	ENSG00000114491	ENST00000232607	T	0.72725	-0.68	5.22	5.22	0.72569	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.350832	0.30260	N	0.010038	T	0.62221	0.2410	L	0.35854	1.095	0.80722	D	1	B	0.24186	0.099	B	0.25405	0.06	T	0.58301	-0.7660	10	0.29301	T	0.29	-22.7445	15.253	0.73561	0.0:0.0:0.0:1.0	.	91	P11172	UMPS_HUMAN	T	91	ENSP00000232607:I91T	ENSP00000232607:I91T	I	+	2	0	0	UMPS	125936745	125936745	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	2.178000	0.69098	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_000373			26	26		146	143	1		1	1		0	0	40	0		9.999999e-01	9.998917e-01	0	25	0	60	0	26	146
UMPS	7372	broad.mit.edu	37	3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	282	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATGCTGAAGACTCATGTAGAT	0.413																																						ENST00000232607.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(844-846)aCt>aTt		uridine monophosphate synthetase	Fluorouracil(DB00544)						126.0	120.0	122.0					3																	124456949		2203	4300	6503	SO:0001583	missense	7372	0	0					g.chr3:124456949C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.845C>T	chr3.hg19:g.124456949C>T	ENSP00000232607:p.Thr282Ile	0					UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.T190I	p.T282I	NM_000373.3	NP_000364.1	1	2	3	1.998468	P11172	UMPS_HUMAN		3	951	+			B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	1	1	hg19	c.845C>T	CCDS3029.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651757	0.67472	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.33	3.56	0.40772	5.33	3.56	0.40772	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049005	0.85682	N	0.000000	T	0.73984	0.3657	M	0.66560	2.04	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.946;0.87	D;D;D	0.77004	0.989;0.925;0.919	T	0.73487	-0.3967	10	0.52906	T	0.07	-13.1542	10.057	0.42250	0.0:0.8464:0.0:0.1536	.	104;104;282	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	I	282;190;104;104	ENSP00000232607:T282I;ENSP00000443577:T190I;ENSP00000444988:T104I;ENSP00000397965:T104I	ENSP00000232607:T282I	T	+	2	0	0	UMPS	125939639	125939639	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.322000	0.65852	0.836000	0.34901	0.655000	0.94253	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_000373			73	72		403	392	1		1	1		0	0	90	0		1	9.999940e-01	0	30	0	67	0	73	403
ITGB5	3693	broad.mit.edu	37	3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					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)			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)		GATCCTCAGGCTGATCCCAGA	0.483																																						ENST00000296181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1165-1167)caG>caT		integrin, beta 5							116.0	113.0	114.0					3																	124527965		2203	4300	6503	SO:0001583	missense	3693	0	0					g.chr3:124527965C>A	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.1167G>T	chr3.hg19:g.124527965C>A	ENSP00000296181:p.Gln389His	0						p.Q389H	NM_002213.3	NP_002204.2	1	2	3	1.998468	P18084	ITB5_HUMAN		9	1463	-			B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	1	1	hg19	c.1167G>T	CCDS3030.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870481|1.870481	0.33069|0.33069	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.63255	.|-0.03	5.63|5.63	3.7|3.7	0.42460|0.42460	5.63|5.63	3.7|3.7	0.42460|0.42460	.|Integrin beta subunit, N-terminal (2);	.|0.444750	.|0.23612	.|N	.|0.046324	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.08118|0.08118	0|0	0.38473|0.38473	D|D	0.947511|0.947511	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.39692	.|T	.|0.17	.|.	8.5238|8.5238	0.33293|0.33293	0.1398:0.5011:0.3591:0.0|0.1398:0.5011:0.3591:0.0	.|.	.|389	.|P18084	.|ITB5_HUMAN	S|H	156|389	.|ENSP00000296181:Q389H	.|ENSP00000296181:Q389H	A|Q	-|-	1|3	0|2	0|2	ITGB5|ITGB5	126010655|126010655	126010655|126010655	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.138000|0.138000	0.16016|0.16016	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCC|CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_002213			91	86		411	405	1		1	1		0	0	119	0		1	1	0	148	0	792	0	91	411
ITGB5	3693	broad.mit.edu	37	3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	353	VWFA.				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)			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)		GTTGTTCCAGGTATCAGGGCT	0.383																																						ENST00000296181.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				30						c.(1057-1059)Cct>Tct		integrin, beta 5							72.0	76.0	75.0					3																	124536539		2203	4300	6503	SO:0001583	missense	3693	0	0					g.chr3:124536539G>A	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.1057C>T	chr3.hg19:g.124536539G>A	ENSP00000296181:p.Pro353Ser	0						p.P353S	NM_002213.3	NP_002204.2	1	2	3	1.998468	P18084	ITB5_HUMAN		8	1353	-			B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	1	1	hg19	c.1057C>T	CCDS3030.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967283	0.92855	.	.	ENSG00000082781	ENST00000296181	D	0.97598	-4.45	5.91	5.91	0.95273	5.91	5.91	0.95273	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.057286	0.64402	D	0.000001	D	0.98353	0.9453	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98908	1.0779	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	353	P18084	ITB5_HUMAN	S	353	ENSP00000296181:P353S	ENSP00000296181:P353S	P	-	1	0	0	ITGB5	126019229	126019229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.693000	0.98684	2.813000	0.96785	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_002213			40	36		211	207	1		1	1		0	0	41	0		1	1	0	131	0	855	0	40	211
PPARG	5468	broad.mit.edu	37	3	12458305	12458305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12458305C>T	ENST00000287820.6	+	6	1043	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C|PPARG_ENST00000397026.2_Missense_Mutation_p.R286C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397000.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	308					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|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)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTGGCCATCCGCATCTTTCA	0.463			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000287820.6	1.000000	0.310000	7.500000e-01	4.200000e-01	0.560000	0.591483	0.560000	0.540000				Dom	yes			Dom	yes		3	3p25	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	yes	Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension	E	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				20						c.(922-924)Cgc>Tgc		peroxisome proliferator-activated receptor gamma	Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)						83.0	80.0	81.0					3																	12458305		2203	4300	6503	SO:0001583	missense	5468	0	0					g.chr3:12458305C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.922C>T	chr3.hg19:g.12458305C>T	ENSP00000287820:p.Arg308Cys	0					PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397026.2_Missense_Mutation_p.R286C	p.R308C	NM_015869.4	NP_056953.2	1	2	3	1.998468	P37231	PPARG_HUMAN		6	1043	+			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	1	1	hg19	c.922C>T	CCDS2609.1	0	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615982	0.66672	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.13	6.13	0.99165	6.13	6.13	0.99165	Nuclear hormone receptor, ligand-binding (2);	0.147023	0.64402	D	0.000006	T	0.74313	0.3700	M	0.74881	2.28	0.80722	D	1	B	0.23540	0.087	B	0.21360	0.034	T	0.70132	-0.4956	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	308	P37231	PPARG_HUMAN	C	280;280;280;280;286;308	ENSP00000380205:R280C;ENSP00000312472:R280C;ENSP00000380210:R280C;ENSP00000380207:R280C;ENSP00000380221:R286C;ENSP00000287820:R308C	ENSP00000287820:R308C	R	+	1	0	0	PPARG	12433305	12433305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.684000	0.61686	2.937000	0.99478	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-2.727234	1	0.170000	NM_005037			13	13		272	268	0		1	1		0	0	60	0		9.995235e-01	8.913990e-01	0	4	0	80	0	13	272
ITGB5	3693	broad.mit.edu	37	3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	91					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)			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)		GAGGGGCAGGCTCCTCAGGAC	0.597																																						ENST00000296181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(271-273)aGc>aTc		integrin, beta 5							69.0	69.0	69.0					3																	124578178		2203	4300	6503	SO:0001583	missense	3693	0	0					g.chr3:124578178C>A	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.272G>T	chr3.hg19:g.124578178C>A	ENSP00000296181:p.Ser91Ile	0						p.S91I	NM_002213.3	NP_002204.2	1	2	3	1.998468	P18084	ITB5_HUMAN		3	568	-			B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	1	1	hg19	c.272G>T	CCDS3030.1	1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881265	0.51801	.	.	ENSG00000082781	ENST00000296181	D	0.92752	-3.1	5.26	2.26	0.28386	5.26	2.26	0.28386	Integrin beta subunit, N-terminal (2);	0.194739	0.56097	D	0.000035	D	0.90584	0.7048	L	0.55990	1.75	0.36569	D	0.872868	P	0.48016	0.904	P	0.51266	0.664	D	0.89985	0.4103	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4619:0.0:0.5381	.	91	P18084	ITB5_HUMAN	I	91	ENSP00000296181:S91I	ENSP00000296181:S91I	S	-	2	0	0	ITGB5	126060868	126060868	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	0.793000	0.26944	0.776000	0.33473	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_002213			82	82		330	326	1		1	1		0	0	67	0		1	1	0	144	0	590	0	82	330
HEG1	57493	broad.mit.edu	37	3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A	rs373641692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	381					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)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473																																						ENST00000311127.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1141-1143)tCg>tTg		heart development protein with EGF-like domains 1		G	LEU/SER	1,3847		0,1,1923	94.0	96.0	95.0		1142	-1.7	0.0	3		95	0,8274		0,0,4137	no	missense	HEG1	NM_020733.1	145	0,1,6060	AA,AG,GG		0.0,0.026,0.0082	benign	381/1382	124739746	1,12121	1924	4137	6061	SO:0001583	missense	57493	4	120872	36				g.chr3:124739746G>A	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.1142C>T	chr3.hg19:g.124739746G>A	ENSP00000311502:p.Ser381Leu	0					HEG1_ENST00000477536.1_5'Flank	p.S381L	NM_020733.1	NP_065784.1	1	2	3	1.998468	Q9ULI3	HEG1_HUMAN		4	1209	-			Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	1	1	hg19	c.1142C>T	CCDS46898.1	1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128058	0.20959	2.6E-4	0.0	ENSG00000173706	ENST00000311127	T	0.42900	0.96	5.02	-1.67	0.08238	5.02	-1.67	0.08238	.	.	.	.	.	T	0.20414	0.0491	N	0.12746	0.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.06405	0.002;0.001	T	0.15521	-1.0434	9	0.34782	T	0.22	.	5.4471	0.16541	0.437:0.1444:0.4187:0.0	.	381;381	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	381	ENSP00000311502:S381L	ENSP00000311502:S381L	S	-	2	0	0	HEG1	126222436	126222436	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.359000	0.07632	-0.588000	0.05882	0.655000	0.94253	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-4.331869	1	0.170000	XM_087386			48	47		156	155	1		1	0		0	0	52	0		1	9.999925e-01	0	0	0	62	0	48	156
HEG1	57493	broad.mit.edu	37	3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	239					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)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537																																						ENST00000311127.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996948	0.990000	1.000000																										0				47						c.(715-717)gCg>gTg		heart development protein with EGF-like domains 1							63.0	63.0	63.0					3																	124746246		1973	4148	6121	SO:0001583	missense	57493	2	120904	31				g.chr3:124746246G>A	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.716C>T	chr3.hg19:g.124746246G>A	ENSP00000311502:p.Ala239Val	0						p.A239V	NM_020733.1	NP_065784.1	1	2	3	1.998468	Q9ULI3	HEG1_HUMAN		3	783	-			Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	1	1	hg19	c.716C>T	CCDS46898.1	1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888195	0.17540	.	.	ENSG00000173706	ENST00000311127	T	0.42900	0.96	4.66	-7.15	0.01521	4.66	-7.15	0.01521	.	.	.	.	.	T	0.16257	0.0391	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	0.15464	-1.0436	9	0.39692	T	0.17	.	3.2358	0.06763	0.1064:0.1681:0.4252:0.3003	.	239;239	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	239	ENSP00000311502:A239V	ENSP00000311502:A239V	A	-	2	0	0	HEG1	126228936	126228936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.919000	0.00334	-1.802000	0.01244	-2.159000	0.00328	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-11.798690	1	0.170000	XM_087386			26	26		193	189	1		1	0		0	0	42	0		9.999999e-01	9.996348e-01	0	0	0	95	0	26	193
HEG1	57493	broad.mit.edu	37	3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A	rs201670111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	154					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)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.0					ENST00000311127.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(460-462)tCg>tTg		heart development protein with EGF-like domains 1							97.0	90.0	92.0					3																	124748188		1946	4149	6095	SO:0001583	missense	57493	0	0					g.chr3:124748188G>A	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.461C>T	chr3.hg19:g.124748188G>A	ENSP00000311502:p.Ser154Leu	0						p.S154L	NM_020733.1	NP_065784.1	1	2	3	1.998468	Q9ULI3	HEG1_HUMAN		2	528	-			Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	1	1	hg19	c.461C>T	CCDS46898.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.12	1.546652	0.27652	.	.	ENSG00000173706	ENST00000311127	T	0.51817	0.69	5.65	2.74	0.32292	5.65	2.74	0.32292	.	.	.	.	.	T	0.30262	0.0759	N	0.20986	0.625	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.16958	-1.0385	9	0.27082	T	0.32	.	6.6872	0.23152	0.2865:0.0:0.7135:0.0	.	154;154	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	154	ENSP00000311502:S154L	ENSP00000311502:S154L	S	-	2	0	0	HEG1	126230878	126230878	0.088000	0.21588	0.065000	0.19835	0.001000	0.01503	0.541000	0.23207	0.963000	0.38082	-0.122000	0.15005	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1		18	2	2	0		0	1	43		43	43	1	2.060000	-20.000000	1	0.170000	XM_087386			45	45		197	191	1		1	0		0	0	43	0		9.998991e-01	9.953125e-01	0	0	0	39	0	45	197
OSBPL11	114885	broad.mit.edu	37	3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	568					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)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418																																						ENST00000296220.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1702-1704)cCc>cAc		oxysterol binding protein-like 11							124.0	112.0	116.0					3																	125266388		2203	4300	6503	SO:0001583	missense	114885	0	0					g.chr3:125266388G>T	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.1703C>A	chr3.hg19:g.125266388G>T	ENSP00000296220:p.Pro568His	0						p.P568H	NM_022776.4	NP_073613.2	1	2	3	1.998468	Q9BXB4	OSB11_HUMAN		10	1992	-			A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	1	1	hg19	c.1703C>A	CCDS3033.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563636	0.86335	.	.	ENSG00000144909	ENST00000296220	T	0.45668	0.89	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82238	-0.0556	10	0.87932	D	0	-14.7118	18.1718	0.89747	0.0:0.0:1.0:0.0	.	568	Q9BXB4	OSB11_HUMAN	H	568	ENSP00000296220:P568H	ENSP00000296220:P568H	P	-	2	0	0	OSBPL11	126749078	126749078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.318000	0.96334	2.524000	0.85096	0.467000	0.42956	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.963812	1	0.170000	NM_022776			67	66		321	321	1		1	1		0	0	75	0		1	9.997573e-01	0	15	0	46	0	67	321
TSEN2	80746	broad.mit.edu	37	3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000284995.6	+	9	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	370					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338																																						ENST00000284995.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1108-1110)cGg>cAg		TSEN2 tRNA splicing endonuclease subunit							116.0	117.0	117.0					3																	12570396		2203	4300	6503	SO:0001583	missense	80746	2	121412	36				g.chr3:12570396G>A	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1109G>A	chr3.hg19:g.12570396G>A	ENSP00000284995:p.Arg370Gln	0					TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q	p.R370Q	NM_025265.3	NP_079541.1	1	2	3	1.998468	Q8NCE0	SEN2_HUMAN		9	1496	+			B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	1	1	hg19	c.1109G>A	CCDS2611.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038279	0.75617	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.57436	0.4;0.53;0.49;0.46;0.45;0.45;0.49;0.53	5.92	5.92	0.95590	5.92	5.92	0.95590	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.060440	0.64402	D	0.000004	T	0.48429	0.1499	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.25850	0.136;0.022;0.072;0.052	B;B;B;B	0.29176	0.099;0.064;0.079;0.043	T	0.33163	-0.9879	10	0.36615	T	0.2	-23.2315	19.0928	0.93235	0.0:0.0:1.0:0.0	.	344;370;344;311	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Q	370;344;311;353;370;370;344;343;344	ENSP00000406238:R370Q;ENSP00000323188:R344Q;ENSP00000392029:R311Q;ENSP00000373307:R353Q;ENSP00000385976:R370Q;ENSP00000284995:R370Q;ENSP00000407974:R344Q;ENSP00000416510:R344Q	ENSP00000284995:R370Q	R	+	2	0	0	TSEN2	12545396	12545396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.489000	0.73641	2.810000	0.96702	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.052221	1	0.170000	NM_025265			73	72		352	344	1		1	0		0	0	54	0		1	7.563538e-01	0	1	0	14	0	73	352
OSBPL11	114885	broad.mit.edu	37	3	125286413	125286413	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	231					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)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388																																						ENST00000296220.5	1.000000	0.850000	1	9.900000e-01	0.990000	0.989011	0.990000	1.000000																										0				27						c.(691-693)caA>caG		oxysterol binding protein-like 11							164.0	144.0	151.0					3																	125286413		2203	4300	6503	SO:0001819	synonymous_variant	114885	0	0					g.chr3:125286413T>C	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.693A>G	chr3.hg19:g.125286413T>C		0						p.Q231Q	NM_022776.4	NP_073613.2	1	2	3	1.998468	Q9BXB4	OSB11_HUMAN		6	982	-			A8K9I7	Silent	SNP	ENST00000296220.5	1	1	hg19	c.693A>G	CCDS3033.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_022776			36	35		323	316	0		1	1		0	0	68	0		1	9.744871e-01	0	3	0	52	0	36	323
SLC41A3	54946	broad.mit.edu	37	3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	465						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507																																						ENST00000315891.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				18						c.(1393-1395)gCt>gAt		solute carrier family 41, member 3							58.0	55.0	56.0					3																	125725380		2203	4300	6503	SO:0001583	missense	54946	0	0					g.chr3:125725380G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1394C>A	chr3.hg19:g.125725380G>T	ENSP00000326070:p.Ala465Asp	0					SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D	p.A465D	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	1	2	3	1.998468	Q96GZ6	S41A3_HUMAN		12	1632	-			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	1	1	hg19	c.1394C>A	CCDS33843.1	1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842629	0.16963	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34667	1.35;1.35	3.69	-6.75	0.01738	3.69	-6.75	0.01738	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17653	-1.0362	9	0.49607	T	0.09	-16.7887	0.8389	0.01145	0.1802:0.2234:0.3116:0.2848	.	429;465	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	429;465	ENSP00000264471:A429D;ENSP00000326070:A465D	ENSP00000326070:A465D	A	-	2	0	0	SLC41A3	127208070	127208070	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.509000	0.06336	-1.735000	0.01353	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_017836			34	34		160	159	1		1	1		0	0	51	0		1	9.999999e-01	0	31	0	98	0	34	160
SLC41A3	54946	broad.mit.edu	37	3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	464						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507																																						ENST00000315891.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1390-1392)gCt>gAt		solute carrier family 41, member 3							57.0	55.0	56.0					3																	125725383		2203	4300	6503	SO:0001583	missense	54946	0	0					g.chr3:125725383G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1391C>A	chr3.hg19:g.125725383G>T	ENSP00000326070:p.Ala464Asp	0					SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D	p.A464D	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	1	2	3	1.998468	Q96GZ6	S41A3_HUMAN		12	1629	-			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	1	1	hg19	c.1391C>A	CCDS33843.1	1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489118	0.12641	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34472	1.36;1.36	3.69	-0.323	0.12709	3.69	-0.323	0.12709	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.015	T	0.30238	-0.9985	9	0.05525	T	0.97	-3.3093	3.513	0.07714	0.2091:0.0:0.5062:0.2847	.	428;464	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	428;464	ENSP00000264471:A428D;ENSP00000326070:A464D	ENSP00000326070:A464D	A	-	2	0	0	SLC41A3	127208073	127208073	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.395000	0.07287	-0.081000	0.12662	-0.948000	0.02665	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_017836			37	37		154	153	1		1	1		0	0	50	0		1	1	0	45	0	89	0	37	154
SLC41A3	54946	broad.mit.edu	37	3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000315891.6	-	7	1101	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000383598.2_Missense_Mutation_p.P262Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607																																						ENST00000315891.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(862-864)cCa>cAa		solute carrier family 41, member 3							84.0	78.0	80.0					3																	125735601		2203	4300	6503	SO:0001583	missense	54946	0	0					g.chr3:125735601G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.863C>A	chr3.hg19:g.125735601G>T	ENSP00000326070:p.Pro288Gln	0					SLC41A3_ENST00000383598.2_Missense_Mutation_p.P262Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q	p.P288Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	1	2	3	1.998468	Q96GZ6	S41A3_HUMAN		7	1101	-			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	1	1	hg19	c.863C>A	CCDS33843.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962747	0.92791	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	T	0.69942	-0.5008	10	0.72032	D	0.01	2.0573	16.9045	0.86123	0.0:0.0:1.0:0.0	.	171;288;288;252;288;262	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	288;252;262;279;288;171	ENSP00000353533:P288Q;ENSP00000264471:P252Q;ENSP00000373092:P262Q;ENSP00000326070:P288Q;ENSP00000427409:P171Q	ENSP00000326070:P288Q	P	-	2	0	0	SLC41A3	127218291	127218291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.596000	0.87737	0.591000	0.81541	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-2.953499	1	0.170000	NM_017836			60	60		296	292	1		1	1		0	0	68	0		1	1	0	36	0	119	0	60	296
ALDH1L1	10840	broad.mit.edu	37	3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000393434.2	-	22	2982	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	878	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)			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)	GCCAAATCCAGACTGTTTGAA	0.493																																						ENST00000393434.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2632-2634)tCt>tAt		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						175.0	167.0	169.0					3																	125824589		2203	4300	6503	SO:0001583	missense	10840	0	0					g.chr3:125824589G>T	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.2633C>A	chr3.hg19:g.125824589G>T	ENSP00000377083:p.Ser878Tyr	0					ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y	p.S878Y	NM_012190.3	NP_036322.2	1	2	3	1.998468	O75891	AL1L1_HUMAN		22	2982	-			B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	1	1	hg19	c.2633C>A	CCDS3034.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443470	0.83993	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.53	4.53	0.55603	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99937	4.99	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	0.98922	1.0784	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	777;413;878	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	888;878;777;878	ENSP00000273450:S888Y;ENSP00000420293:S878Y;ENSP00000395881:S777Y;ENSP00000377083:S878Y	ENSP00000273450:S888Y	S	-	2	0	0	ALDH1L1	127307279	127307279	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.304000	0.96190	2.329000	0.79093	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1		2	2	2	0		0	0	130		130	126	1	2.060000	-20.000000	1	0.170000	NM_012190			98	94		425	418	1		1	1		0	0	130	0		1	9.996033e-01	0	28	0	24	0	98	425
ALDH1L1	10840	broad.mit.edu	37	3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000393434.2	-	18	2428	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	693	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)			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)	CCCTCACCATCTGCACAGCCT	0.597																																						ENST00000393434.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2077-2079)caG>caT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						105.0	97.0	100.0					3																	125833403		2203	4300	6503	SO:0001583	missense	10840	0	0					g.chr3:125833403C>A	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.2079G>T	chr3.hg19:g.125833403C>A	ENSP00000377083:p.Gln693His	0					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H	p.Q693H	NM_012190.3	NP_036322.2	1	2	3	1.998468	O75891	AL1L1_HUMAN		18	2428	-			B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	1	1	hg19	c.2079G>T	CCDS3034.1	1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045867	0.36085	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.82	1.0	0.19881	3.82	1.0	0.19881	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.212560	0.40554	N	0.001072	T	0.09949	0.0244	L	0.38531	1.155	0.80722	D	1	D;D;P	0.59767	0.973;0.986;0.707	P;P;P	0.54889	0.71;0.763;0.5	T	0.19257	-1.0311	10	0.72032	D	0.01	.	2.8212	0.05471	0.2024:0.4583:0.0:0.3393	.	592;228;693	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	703;693;592;693	ENSP00000273450:Q703H;ENSP00000420293:Q693H;ENSP00000395881:Q592H;ENSP00000377083:Q693H	ENSP00000273450:Q703H	Q	-	3	2	2	ALDH1L1	127316093	127316093	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.044000	0.30329	0.407000	0.25591	-0.339000	0.08088	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_012190			74	74		318	311	1		1	1		0	0	74	0		1	9.993274e-01	0	19	0	30	0	74	318
ALDH1L1	10840	broad.mit.edu	37	3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	rs369044554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	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)			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)	TCCTTGGCTGCGGCCACTGCC	0.602																																						ENST00000393434.2	1.000000	0.170000	5.200000e-01	2.500000e-01	0.360000	0.408486	0.360000	0.340000																										0				52						c.(1399-1401)Gca>Aca		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						141.0	110.0	121.0					3																	125854451		2203	4300	6503	SO:0001583	missense	10840	4	121398	39				g.chr3:125854451C>T	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.1399G>A	chr3.hg19:g.125854451C>T	ENSP00000377083:p.Ala467Thr	0					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T	p.A467T	NM_012190.3	NP_036322.2	1	2	3	1.998468	O75891	AL1L1_HUMAN		12	1748	-			B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	0	1	hg19	c.1399G>A	CCDS3034.1	0	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	0	ALDH1L1	127337141	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-9.223255	1	0.170000	NM_012190			9	9		301	300	0		1	0		0	0	58	0		9.942286e-01	4.523380e-01	0	0	0	49	0	9	301
ALDH1L1	10840	broad.mit.edu	37	3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000393434.2	-	6	1004	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	219					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)			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)	TTGTGAATGGCCTCTGCCGGC	0.617																																						ENST00000393434.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(655-657)Gcc>Acc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						112.0	92.0	99.0					3																	125873462		2203	4300	6503	SO:0001583	missense	10840	0	0					g.chr3:125873462C>T	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.655G>A	chr3.hg19:g.125873462C>T	ENSP00000377083:p.Ala219Thr	0					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T	p.A219T	NM_012190.3	NP_036322.2	1	2	3	1.998468	O75891	AL1L1_HUMAN		6	1004	-			B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	1	1	hg19	c.655G>A	CCDS3034.1	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185578	0.57909	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.77750	0.95;0.95;-1.12;0.95;0.95;0.95	4.64	3.76	0.43208	4.64	3.76	0.43208	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.124005	0.52532	D	0.000065	T	0.68622	0.3021	L	0.51853	1.615	0.48452	D	0.999652	P;B;B;B;B	0.36959	0.575;0.345;0.037;0.401;0.037	B;B;B;B;B	0.33799	0.153;0.17;0.034;0.14;0.034	T	0.64521	-0.6388	10	0.22706	T	0.39	.	11.9136	0.52753	0.1752:0.8248:0.0:0.0	.	44;118;271;124;219	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	T	229;219;118;219;219;44	ENSP00000273450:A229T;ENSP00000420293:A219T;ENSP00000395881:A118T;ENSP00000377083:A219T;ENSP00000377081:A219T;ENSP00000414126:A44T	ENSP00000273450:A229T	A	-	1	0	0	ALDH1L1	127356152	127356152	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.263000	0.51546	1.148000	0.42385	0.591000	0.81541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-20.000000	1	0.170000	NM_012190			86	85		355	349	1		1	1		0	0	87	0		1	9.990240e-01	0	24	0	21	0	86	355
MKRN2	23609	broad.mit.edu	37	3	12613662	12613662	+	Silent	SNP	G	G	A	rs561540465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000170447.7	+	4	569	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_ENST00000448482.1_Silent_p.P142P|MKRN2_ENST00000411987.1_Silent_p.P101P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	144					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612																																						ENST00000170447.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(430-432)ccG>ccA		makorin ring finger protein 2							60.0	62.0	61.0					3																	12613662		2203	4300	6503	SO:0001819	synonymous_variant	23609	1	121412	33				g.chr3:12613662G>A		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.432G>A	chr3.hg19:g.12613662G>A		0					MKRN2_ENST00000448482.1_Silent_p.P142P|MKRN2_ENST00000411987.1_Silent_p.P101P	p.P144P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	1	2	3	1.998468	Q9H000	MKRN2_HUMAN		4	569	+			A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	1	1	hg19	c.432G>A	CCDS33702.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-3.239131	1	0.170000	NM_014160			54	54		247	244	1		1	1		0	0	66	0		1	1	0	42	0	136	0	54	247
KLF15	28999	broad.mit.edu	37	3	126062615	126062615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	402					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAAGCGGTGCACCTTGATGT	0.657																																						ENST00000296233.3	1.000000	0.310000	7.600000e-01	4.200000e-01	0.560000	0.593305	0.560000	0.540000																										0				12						c.(1204-1206)gtG>gtA		Kruppel-like factor 15							52.0	50.0	51.0					3																	126062615		2203	4300	6503	SO:0001819	synonymous_variant	28999	0	0					g.chr3:126062615C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1206G>A	chr3.hg19:g.126062615C>T		0						p.V402V	NM_014079.3	NP_054798.1	1	2	3	1.998468	Q9UIH9	KLF15_HUMAN		3	1436	-				Silent	SNP	ENST00000296233.3	0	1	hg19	c.1206G>A	CCDS3036.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-4.613925	1	0.170000	NM_014079			13	13		271	264	0		1	0		0	0	24	0		9.994886e-01	4.282169e-01	0	0	0	30	0	13	271
CCDC37	348807	broad.mit.edu	37	3	126138556	126138556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138556G>T	ENST00000352312.1	+	9	907	c.808G>T	c.(808-810)Gag>Tag	p.E270*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	270										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)		GTCGCCCAAGGAGTGGCTTGA	0.493																																						ENST00000352312.1	1.000000	0.230000	5.400000e-01	3.100000e-01	0.400000	0.446330	0.400000	0.390000																										0				23						c.(808-810)Gag>Tag		coiled-coil domain containing 37							69.0	72.0	71.0					3																	126138556		2203	4300	6503	SO:0001587	stop_gained	348807	0	0					g.chr3:126138556G>T	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.808G>T	chr3.hg19:g.126138556G>T	ENSP00000344749:p.Glu270*	0					CCDC37_ENST00000393425.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	p.E270*	NM_182628.2	NP_872434.2	1	2	3	1.998468	Q494V2	CCD37_HUMAN		9	907	+			D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	ENST00000352312.1	0	1	hg19	c.808G>T	CCDS3037.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.350566	0.97498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-30.7575	14.9376	0.70970	0.0:0.0:1.0:0.0	.	.	.	.	X	270;271;271	.	ENSP00000344749:E270X	E	+	1	0	0	CCDC37	127621246	127621246	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.465000	0.90383	2.379000	0.81126	0.467000	0.42956	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	0	0	1		2	2	2	0		0	0	112		112	103	1	2.060000	-3.103184	1	0.170000	NM_182628			15	14		436	421	0		1			0	0	112	0		9.998372e-01	0	0	0	0	0	0	15	436
CCDC37	348807	broad.mit.edu	37	3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000352312.1	+	11	1062	c.963G>T	c.(961-963)caG>caT	p.Q321H	CCDC37_ENST00000393425.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	321										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)		CAGAGGGTCAGGGTACAAAGA	0.642																																						ENST00000352312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(961-963)caG>caT		coiled-coil domain containing 37							30.0	30.0	30.0					3																	126138953		2203	4299	6502	SO:0001583	missense	348807	0	0					g.chr3:126138953G>T	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.963G>T	chr3.hg19:g.126138953G>T	ENSP00000344749:p.Gln321His	0					CCDC37_ENST00000393425.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	p.Q321H	NM_182628.2	NP_872434.2	1	2	3	1.998468	Q494V2	CCD37_HUMAN		11	1062	+			D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	1	1	hg19	c.963G>T	CCDS3037.1	1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562646	0.13498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	3.37	-2.18	0.07037	3.37	-2.18	0.07037	.	1.302360	0.05056	N	0.479042	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.371;0.254	B;B	0.24701	0.055;0.025	T	0.16867	-1.0388	10	0.46703	T	0.11	-3.6099	3.9837	0.09506	0.3427:0.3519:0.3054:0.0	.	322;321	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	321;322;322	ENSP00000344749:Q321H;ENSP00000377076:Q322H;ENSP00000423046:Q322H	ENSP00000344749:Q321H	Q	+	3	2	2	CCDC37	127621643	127621643	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.407000	0.07178	-0.500000	0.06614	0.491000	0.48974	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-3.973710	1	0.170000	NM_182628			40	40		141	140	1		1			0	0	29	0		1	0	0	0	0	0	0	40	141
MKRN2	23609	broad.mit.edu	37	3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000170447.7	+	5	960	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W|MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	275					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473																																						ENST00000170447.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(823-825)Cgg>Tgg		makorin ring finger protein 2							88.0	76.0	80.0					3																	12616471		2203	4300	6503	SO:0001583	missense	23609	0	0					g.chr3:12616471C>T		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.823C>T	chr3.hg19:g.12616471C>T	ENSP00000170447:p.Arg275Trp	0					MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W|MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W	p.R275W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	1	2	3	1.998468	Q9H000	MKRN2_HUMAN		5	960	+			A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	1	1	hg19	c.823C>T	CCDS33702.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458241	0.84317	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.67865	-0.29;0.97;-0.29	5.91	-3.06	0.05379	5.91	-3.06	0.05379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.62016	1.91	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	0.81134	-0.1071	10	0.87932	D	0	-6.668	22.9923	0.99978	0.1948:0.8052:0.0:0.0	.	232;273;275	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	W	275;232;273	ENSP00000170447:R275W;ENSP00000396340:R232W;ENSP00000397983:R273W	ENSP00000170447:R275W	R	+	1	2	2	MKRN2	12591471	12591471	0.989000	0.36119	0.986000	0.45419	0.996000	0.88848	0.385000	0.20685	-0.390000	0.07774	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	1	0	1		16	11	2	1		1	1	57		57	55	1	2.060000	-2.949808	1	0.170000	NM_014160			45	43		215	212	1		1	1		1	0	57	0		9.999765e-01	9.993969e-01	0	42	0	115	0	45	215
CCDC37	348807	broad.mit.edu	37	3	126154401	126154401	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000352312.1	+	16	1727		c.e16-1		CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											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)		TTGCCACCCAGACTTCGAGAA	0.572																																						ENST00000352312.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e16-1		coiled-coil domain containing 37							40.0	45.0	44.0					3																	126154401		2203	4300	6503	SO:0001630	splice_region_variant	348807	0	0					g.chr3:126154401G>T	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.1629-1G>T	chr3.hg19:g.126154401G>T		0					CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site		NM_182628.2	NP_872434.2	1	2	3	1.998468	Q494V2	CCD37_HUMAN		16	1727	+			D3DNA8|Q494V1|Q494V4|Q8N838	Splice_Site	SNP	ENST00000352312.1	1	1	hg19		CCDS3037.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900877	0.33535	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.4	4.4	0.53042	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CCDC37	127637091	127637091	1.000000	0.71417	0.930000	0.37139	0.256000	0.26092	6.572000	0.74005	2.162000	0.67917	0.491000	0.48974	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_182628	Intron		34	34		141	138	1		1	1		0	0	35	0		1	3.999238e-02	0	2	0	0	0	34	141
ZXDC	79364	broad.mit.edu	37	3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	460					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577																																						ENST00000389709.3	1.000000	0.330000	7.400000e-01	4.300000e-01	0.560000	0.597102	0.560000	0.540000																										0				17						c.(1378-1380)aGa>aAa		ZXD family zinc finger C							85.0	94.0	91.0					3																	126185060		2157	4274	6431	SO:0001583	missense	79364	0	0					g.chr3:126185060C>T	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1379G>A	chr3.hg19:g.126185060C>T	ENSP00000374359:p.Arg460Lys	0					ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	p.R460K	NM_025112.4	NP_079388.3	1	2	3	1.998468	Q2QGD7	ZXDC_HUMAN		5	1432	-			C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	1	1	hg19	c.1379G>A	CCDS43145.1	0	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607080	0.28623	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35789	1.29;1.29	5.23	4.11	0.48088	5.23	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056668	0.64402	D	0.000003	T	0.15392	0.0371	N	0.13043	0.29	0.28752	N	0.90137	B;B	0.20368	0.035;0.044	B;B	0.20577	0.017;0.03	T	0.33292	-0.9874	10	0.02654	T	1	-20.3099	5.432	0.16458	0.0:0.7589:0.0:0.2411	.	460;460	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	K	460	ENSP00000374359:R460K;ENSP00000337694:R460K	ENSP00000337694:R460K	R	-	2	0	0	ZXDC	127667750	127667750	1.000000	0.71417	0.716000	0.30569	0.648000	0.38561	5.981000	0.70524	2.593000	0.87608	0.591000	0.81541	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.333463	1	0.170000	NM_025112			16	16		328	320	0		1	1		0	0	69	0		9.999250e-01	8.539981e-01	0	2	0	70	0	16	328
UROC1	131669	broad.mit.edu	37	3	126208217	126208217	+	Splice_Site	SNP	G	G	A	rs371222476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	537					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)			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)		GACCACCGGCGCCTGTGCATG	0.592																																						ENST00000290868.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1609-1611)gCg>gTg		urocanate hydratase 1		G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	90.0	80.0	83.0		1790,1610	4.6	1.0	3		83	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	UROC1	NM_001165974.1,NM_144639.2	64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	597/737,537/677	126208217	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	131669	5	121412	39				g.chr3:126208217G>A	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.1609-1C>T	chr3.hg19:g.126208217G>A		0					UROC1_ENST00000383579.3_Splice_Site_p.A597V	p.A537V	NM_144639.2	NP_653240.1	1	2	3	1.998468	Q96N76	HUTU_HUMAN		17	1663	-			E9PE13|Q14C64|Q68CJ7	Splice_Site	SNP	ENST00000290868.2	1	0	hg19	c.1610C>T	CCDS3038.1	1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902816	0.72754	4.54E-4	0.0	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.55930	0.49;0.49	4.59	4.59	0.56863	4.59	4.59	0.56863	Urocanase domain (2);	0.052993	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66979	0.867;0.948	T	0.82884	-0.0236	10	0.87932	D	0	-21.838	11.2004	0.48739	0.0:0.1864:0.8136:0.0	.	597;537	E9PE13;Q96N76	.;HUTU_HUMAN	V	537;597	ENSP00000290868:A537V;ENSP00000373073:A597V	ENSP00000290868:A537V	A	-	2	0	0	UROC1	127690907	127690907	1.000000	0.71417	0.962000	0.40283	0.717000	0.41224	6.627000	0.74258	2.247000	0.74100	0.491000	0.48974	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	1	0	1		26	2	2	0		0	2	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_144639	Missense_Mutation		68	68		347	343	1		1	0		0	0	70	0		9.999988e-01	0	0	0	0	1	0	68	347
RAF1	5894	broad.mit.edu	37	3	12626108	12626108	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	618					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)		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)	GAAGCGCTCCGGTTGATCTTC	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p25	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1				M	M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				32						c.(1852-1854)Cgg>Agg		Raf-1 proto-oncogene, serine/threonine kinase	Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)						142.0	125.0	131.0					3																	12626108		2203	4300	6503	SO:0001819	synonymous_variant	5894	0	0		Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	g.chr3:12626108G>T	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.1852C>A	chr3.hg19:g.12626108G>T		0					RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000542177.1_Silent_p.R537R	p.R618R	NM_002880.3	NP_002871.1	1	2	3	1.998468	P04049	RAF1_HUMAN		17	2291	-			B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	1	1	hg19	c.1852C>A	CCDS2612.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-2.974097	1	0.170000	NM_002880			64	63		341	326	1		1	1		0	0	89	0		1	1	0	102	0	294	0	64	341
UROC1	131669	broad.mit.edu	37	3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	506					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)			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)		TGCCTGGGAGCCCACCACCTG	0.602																																						ENST00000290868.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(1516-1518)gGc>gAc		urocanate hydratase 1							78.0	55.0	63.0					3																	126211352		2203	4300	6503	SO:0001583	missense	131669	0	0					g.chr3:126211352C>T	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.1517G>A	chr3.hg19:g.126211352C>T	ENSP00000290868:p.Gly506Asp	0					UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	p.G506D	NM_144639.2	NP_653240.1	1	2	3	1.998468	Q96N76	HUTU_HUMAN		16	1570	-			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	1	1	hg19	c.1517G>A	CCDS3038.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593557	0.86953	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	4.79	4.79	0.61399	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	H	0.97918	4.105	0.80722	D	1	D;D	0.56035	0.965;0.974	P;D	0.68192	0.866;0.956	D	0.93392	0.6752	10	0.87932	D	0	-20.383	15.3337	0.74234	0.0:1.0:0.0:0.0	.	566;506	E9PE13;Q96N76	.;HUTU_HUMAN	D	506;566	ENSP00000290868:G506D;ENSP00000373073:G566D	ENSP00000290868:G506D	G	-	2	0	0	UROC1	127694042	127694042	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.942000	0.75928	2.189000	0.69895	0.484000	0.47621	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_144639			27	27		94	94	1		1	0		0	0	39	0		1	0	0	1	0	0	0	27	94
PLXNA1	5361	broad.mit.edu	37	3	126710388	126710388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	ENST00000393409.2	+	2	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	PLXNA1_ENST00000251772.4_Silent_p.T429T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	452	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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCGGCACGCGAAGTGGCC	0.672																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1354-1356)acG>acA		plexin A1							35.0	31.0	33.0					3																	126710388		2203	4296	6499	SO:0001819	synonymous_variant	5361	0	0					g.chr3:126710388G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1356G>A	chr3.hg19:g.126710388G>A		0					PLXNA1_ENST00000251772.4_Silent_p.T429T	p.T452T	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		2	1356	+				Silent	SNP	ENST00000393409.2	1	1	hg19	c.1356G>A	CCDS33847.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	1		2	2	2	0		0	0	49		49	44	1	2.060000	-20.000000	1	0.170000	NM_032242			101	98		152	148	0		1	1		0	0	49	0		1	1	0	41	0	53	0	101	152
PLXNA1	5361	broad.mit.edu	37	3	126733350	126733350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	878	IPT/TIG 1.				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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(2632-2634)ggC>ggT		plexin A1							38.0	43.0	42.0					3																	126733350		2202	4299	6501	SO:0001819	synonymous_variant	5361	0	0					g.chr3:126733350C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2634C>T	chr3.hg19:g.126733350C>T		0					PLXNA1_ENST00000251772.4_Silent_p.G855G	p.G878G	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		12	2634	+				Silent	SNP	ENST00000393409.2	1	1	hg19	c.2634C>T	CCDS33847.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-20.000000	1	0.170000	NM_032242			46	47		175	170	0		1	1		0	0	33	0		1	9.994835e-01	0	12	0	35	0	46	175
PLXNA1	5361	broad.mit.edu	37	3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1024	IPT/TIG 2.				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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3070-3072)Gct>Act		plexin A1							102.0	105.0	104.0					3																	126735415		2203	4300	6503	SO:0001583	missense	5361	1	121410	32				g.chr3:126735415G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3070G>A	chr3.hg19:g.126735415G>A	ENSP00000377061:p.Ala1024Thr	0					PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	p.A1024T	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		15	3070	+				Missense_Mutation	SNP	ENST00000393409.2	1	1	hg19	c.3070G>A	CCDS33847.2	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702763	0.30232	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	2.96	0.34315	3.84	2.96	0.34315	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.400014	0.23164	N	0.051205	T	0.66733	0.2819	L	0.46157	1.445	0.33196	D	0.551453	B	0.15930	0.015	B	0.20184	0.028	T	0.63171	-0.6697	10	0.22706	T	0.39	.	6.7254	0.23353	0.0995:0.0:0.6776:0.2228	.	1024	Q9UIW2	PLXA1_HUMAN	T	1024;1001	ENSP00000377061:A1024T;ENSP00000251772:A1001T	ENSP00000251772:A1001T	A	+	1	0	0	PLXNA1	128218105	128218105	0.863000	0.29885	0.928000	0.36995	0.689000	0.40095	2.159000	0.42339	0.836000	0.34901	-0.339000	0.08088	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_032242			80	79		415	408	1		1	1		0	0	76	0		1	9.999931e-01	0	24	0	66	0	80	415
PLXNA1	5361	broad.mit.edu	37	3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1073	IPT/TIG 3.				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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				67						c.(3217-3219)Ctg>Atg		plexin A1							65.0	63.0	64.0					3																	126735821		2203	4300	6503	SO:0001583	missense	5361	0	0					g.chr3:126735821C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3217C>A	chr3.hg19:g.126735821C>A	ENSP00000377061:p.Leu1073Met	0					PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	p.L1073M	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		16	3217	+				Missense_Mutation	SNP	ENST00000393409.2	1	1	hg19	c.3217C>A	CCDS33847.2	1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330291	0.60743	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	D;D	0.81499	-1.5;-1.5	4.08	3.21	0.36854	4.08	3.21	0.36854	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.89663	0.6780	M	0.90870	3.155	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	D	0.88768	0.3262	10	0.87932	D	0	.	6.8375	0.23945	0.0:0.6852:0.1465:0.1683	.	1073	Q9UIW2	PLXA1_HUMAN	M	1073;1050	ENSP00000377061:L1073M;ENSP00000251772:L1050M	ENSP00000251772:L1050M	L	+	1	2	2	PLXNA1	128218511	128218511	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	1.916000	0.39986	0.935000	0.37341	0.491000	0.48974	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.323304	1	0.170000	NM_032242			53	53		298	289	1		1	1		0	0	68	0		1	9.999991e-01	0	33	0	85	0	53	298
PLXNA1	5361	broad.mit.edu	37	3	126736699	126736699	+	Silent	SNP	C	C	T	rs534048902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1208	IPT/TIG 4.				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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				67						c.(3622-3624)tgC>tgT		plexin A1							70.0	64.0	66.0					3																	126736699		2203	4299	6502	SO:0001819	synonymous_variant	5361	0	0					g.chr3:126736699C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3624C>T	chr3.hg19:g.126736699C>T		0					PLXNA1_ENST00000251772.4_Silent_p.C1185C	p.C1208C	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		18	3624	+				Silent	SNP	ENST00000393409.2	1	1	hg19	c.3624C>T	CCDS33847.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_032242			55	55		315	306	1		1	1		0	0	62	0		1	9.997014e-01	0	11	0	60	0	55	315
PLXNA1	5361	broad.mit.edu	37	3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1380					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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				67						c.(4138-4140)aGc>aAc		plexin A1							65.0	55.0	58.0					3																	126741028		2203	4300	6503	SO:0001583	missense	5361	0	0					g.chr3:126741028G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4139G>A	chr3.hg19:g.126741028G>A	ENSP00000377061:p.Ser1380Asn	0					PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	p.S1380N	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		21	4139	+				Missense_Mutation	SNP	ENST00000393409.2	1	1	hg19	c.4139G>A	CCDS33847.2	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641026	0.67244	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.36	3.36	0.38483	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.165437	0.42053	D	0.000771	T	0.28830	0.0715	L	0.60067	1.865	0.47778	D	0.999519	P	0.46578	0.88	P	0.58660	0.843	T	0.02797	-1.1109	10	0.33940	T	0.23	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1380	Q9UIW2	PLXA1_HUMAN	N	1380;1357	ENSP00000377061:S1380N;ENSP00000251772:S1357N	ENSP00000251772:S1357N	S	+	2	0	0	PLXNA1	128223718	128223718	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.254000	0.78329	2.177000	0.69029	0.467000	0.42956	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_032242			27	27		127	125	1		1	1		0	0	38	0		1	9.999899e-01	0	33	0	59	0	27	127
PLXNA1	5361	broad.mit.edu	37	3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1410					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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642																																						ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				67						c.(4228-4230)caG>caT		plexin A1							61.0	61.0	61.0					3																	126741119		2203	4300	6503	SO:0001583	missense	5361	0	0					g.chr3:126741119G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4230G>T	chr3.hg19:g.126741119G>T	ENSP00000377061:p.Gln1410His	0					PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	p.Q1410H	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		21	4230	+				Missense_Mutation	SNP	ENST00000393409.2	1	1	hg19	c.4230G>T	CCDS33847.2	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950038	0.53186	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.36	3.36	0.38483	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098879	0.43919	D	0.000501	T	0.19525	0.0469	L	0.39467	1.215	0.80722	D	1	B	0.21309	0.054	B	0.33254	0.16	T	0.14755	-1.0461	10	0.52906	T	0.07	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1410	Q9UIW2	PLXA1_HUMAN	H	1410;1387	ENSP00000377061:Q1410H;ENSP00000251772:Q1387H	ENSP00000251772:Q1387H	Q	+	3	2	2	PLXNA1	128223809	128223809	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.379000	0.66196	2.177000	0.69029	0.467000	0.42956	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_032242			32	32		157	153	1		1	1		0	0	43	0		1	9.999981e-01	0	32	0	75	0	32	157
PLXNA1	5361	broad.mit.edu	37	3	126752801	126752801	+	Missense_Mutation	SNP	C	C	T	rs149124469		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126752801C>T	ENST00000393409.2	+	31	5632	c.5632C>T	c.(5632-5634)Cgg>Tgg	p.R1878W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1855W|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1878					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)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCAGGCGCGGCGGCAGCGGCT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16944	0.0		0.0	False		,,,				2504	0.0					ENST00000393409.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997934	0.990000	1.000000																										0				67						c.(5632-5634)Cgg>Tgg		plexin A1		C	TRP/ARG	2,4396		0,2,2197	24.0	25.0	25.0		5632	0.5	1.0	3	dbSNP_134	25	0,8592		0,0,4296	no	missense	PLXNA1	NM_032242.3	101	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	1878/1897	126752801	2,12988	2199	4296	6495	SO:0001583	missense	5361	2	120832	33				g.chr3:126752801C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5632C>T	chr3.hg19:g.126752801C>T	ENSP00000377061:p.Arg1878Trp	0					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1855W	p.R1878W	NM_032242.3	NP_115618.3	1	2	3	1.998468	Q9UIW2	PLXA1_HUMAN		31	5632	+				Missense_Mutation	SNP	ENST00000393409.2	1	0	hg19	c.5632C>T	CCDS33847.2	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.11	3.764796	0.69878	4.55E-4	0.0	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	4.02	0.523	0.17060	4.02	0.523	0.17060	.	0.000000	0.50627	D	0.000103	T	0.23766	0.0575	M	0.68317	2.08	0.44762	D	0.997768	D;D	0.69078	0.997;0.99	P;P	0.61132	0.884;0.834	T	0.02437	-1.1159	10	0.87932	D	0	.	11.4945	0.50400	0.7252:0.2748:0.0:0.0	.	492;1878	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	W	1878;1855	ENSP00000377061:R1878W;ENSP00000251772:R1855W	ENSP00000251772:R1855W	R	+	1	2	2	PLXNA1	128235491	128235491	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	1.457000	0.35212	0.287000	0.22375	0.313000	0.20887	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	0		2	2	2	0		0	0	16		16	15	1	2.060000	-9.841339	1	0.170000	NM_032242			12	11		61	60	1		1	1		0	0	16	0		9.992763e-01	9.999440e-01	0	27	0	76	0	12	61
TPRA1	131601	broad.mit.edu	37	3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000465915.1_5'Flank	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	117					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672																																						ENST00000355552.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(349-351)Ctg>Atg		transmembrane protein, adipocyte asscociated 1							76.0	74.0	75.0					3																	127295733		2203	4300	6503	SO:0001583	missense	131601	0	0					g.chr3:127295733G>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.349C>A	chr3.hg19:g.127295733G>T	ENSP00000347748:p.Leu117Met	0					TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000465915.1_5'Flank	p.L117M	NM_001136053.1	NP_001129525.1	1	2	3	1.998468	Q86W33	TPRA1_HUMAN		5	725	-			A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	1	1	hg19	c.349C>A	CCDS3042.1	1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834041	0.71373	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.51	2.66	0.31614	4.51	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68678	-0.5345	9	0.72032	D	0.01	-11.9186	10.4878	0.44733	0.1617:0.0:0.8383:0.0	.	117;117	Q86W33-3;Q86W33	.;TPRA1_HUMAN	M	117	.	ENSP00000296210:L117M	L	-	1	2	2	TPRA1	128778423	128778423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.232000	0.58645	1.006000	0.39211	0.591000	0.81541	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_016372			55	55		221	219	1		1	1		0	0	50	0		1	1	0	47	0	119	0	55	221
MCM2	4171	broad.mit.edu	37	3	127318161	127318161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	3	Interaction with KAT7. {ECO:0000250}.				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)			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572																																						ENST00000265056.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(7-9)Gaa>Aaa		minichromosome maintenance complex component 2							156.0	168.0	164.0					3																	127318161		2203	4300	6503	SO:0001630	splice_region_variant	4171	0	0					g.chr3:127318161G>A	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.7-1G>A	chr3.hg19:g.127318161G>A		0						p.E3K	NM_004526.2	NP_004517.2	1	2	3	1.998468	P49736	MCM2_HUMAN		2	251	+			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Splice_Site	SNP	ENST00000265056.7	1	0	hg19	c.7G>A	CCDS3043.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192676	0.78902	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02301	4.35	5.2	5.2	0.72013	5.2	5.2	0.72013	.	1.521000	0.04101	N	0.312860	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52403	-0.8580	10	0.59425	D	0.04	-21.1968	15.9144	0.79500	0.0:0.0:1.0:0.0	.	3	P49736	MCM2_HUMAN	K	3	ENSP00000265056:E3K	ENSP00000265056:E3K	E	+	1	0	0	MCM2	128800851	128800851	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.119000	0.71590	2.417000	0.82017	0.585000	0.79938	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	1	0	1		2	2	2	0		0	0	265		265	261	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		270	266		1194	1178	1		1	1		0	0	265	0		1	9.999961e-01	0	20	0	57	0	270	1194
MCM2	4171	broad.mit.edu	37	3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	825					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.R825W(1)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	0.542																																						ENST00000265056.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R825W(1)	skin(1)	6						c.(2473-2475)Cgg>Tgg		minichromosome maintenance complex component 2							137.0	133.0	134.0					3																	127339940		2203	4300	6503	SO:0001583	missense	4171	3	121412	41				g.chr3:127339940C>T	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.2473C>T	chr3.hg19:g.127339940C>T	ENSP00000265056:p.Arg825Trp	0					MCM2_ENST00000468414.1_3'UTR	p.R825W	NM_004526.2	NP_004517.2	1	2	3	1.998468	P49736	MCM2_HUMAN		15	2717	+			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	1	1	hg19	c.2473C>T	CCDS3043.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935240	0.73442	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02525	4.26	5.38	4.5	0.54988	5.38	4.5	0.54988	.	0.103066	0.64402	D	0.000007	T	0.12347	0.0300	M	0.76002	2.32	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.99;0.975	D;P;P	0.72625	0.978;0.586;0.582	T	0.00235	-1.1892	10	0.87932	D	0	-21.8525	9.0803	0.36547	0.2869:0.5936:0.1195:0.0	.	875;695;825	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	W	825;729;875	ENSP00000265056:R825W	ENSP00000265056:R825W	R	+	1	2	2	MCM2	128822630	128822630	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.833000	0.39161	1.240000	0.43803	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	1	0	1		2	2	2	0		0	0	187		187	183	1	2.060000	-2.911483	1	0.170000				170	170		771	753	1		1	1		0	0	187	0		1	9.998953e-01	0	15	0	46	0	170	771
ABTB1	80325	broad.mit.edu	37	3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCAGGAGCCCGCTGCGAGGC	0.637																																						ENST00000232744.8	1.000000	0.980000	1	9.900000e-01	0.990000	0.997417	0.990000	1.000000																										0				10						c.(181-183)Cgc>Tgc		ankyrin repeat and BTB (POZ) domain containing 1							14.0	16.0	15.0					3																	127394818		2198	4292	6490	SO:0001583	missense	80325	2	121334	34				g.chr3:127394818C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.181C>T	chr3.hg19:g.127394818C>T	ENSP00000232744:p.Arg61Cys	0					ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR	p.R61C			1	2	3	1.998468				4	267	+				Missense_Mutation	SNP	ENST00000232744.8	1	1	hg19	c.181C>T	CCDS3045.1	1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939283	0.34189	.	.	ENSG00000114626	ENST00000361019;ENST00000232744	D	0.86366	-2.11	4.71	3.74	0.42951	4.71	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.055368	0.64402	D	0.000003	D	0.87916	0.6298	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65773	0.938;0.93	D	0.87236	0.2263	10	0.51188	T	0.08	-5.7025	9.9066	0.41379	0.4822:0.5178:0.0:0.0	.	61;36	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	34;61	ENSP00000232744:R61C	ENSP00000232744:R61C	R	+	1	0	0	ABTB1	128877508	128877508	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.608000	0.74168	2.156000	0.67533	0.457000	0.33378	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_172027			17	16		108	109	1		1	1		0	0	22	0		9.999771e-01	1	0	111	0	165	0	17	108
MGLL	11343	broad.mit.edu	37	3	127500698	127500698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127500698C>T	ENST00000434178.2	-	3	1062	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S			Q99685	MGLL_HUMAN	monoglyceride lipase	56					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)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCATAGCGGCCACTGTGCTCT	0.642																																						ENST00000434178.2	1.000000	0.150000	4.400000e-01	2.200000e-01	0.310000	0.356457	0.310000	0.290000																										0				6						c.(166-168)Ggc>Agc		monoglyceride lipase							51.0	54.0	53.0					3																	127500698		2056	4206	6262	SO:0001583	missense	11343	0	0					g.chr3:127500698C>T	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.166G>A	chr3.hg19:g.127500698C>T	ENSP00000402798:p.Gly56Ser	0					MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S	p.G56S			1	2	3	1.998468	Q99685	MGLL_HUMAN		3	1062	-			B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	0	1	hg19	c.166G>A	CCDS43148.1	0	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474237	0.84640	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.66460	-0.21;-0.21;-0.21;0.98	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.049669	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.64830	0.994;0.982;0.99;0.994	D;D;D;D	0.70716	0.966;0.945;0.97;0.968	T	0.79647	-0.1716	10	0.56958	D	0.05	-9.3992	14.2186	0.65809	0.0:1.0:0.0:0.0	.	66;56;56;66	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	S	56;66;56;66;66;56	ENSP00000402798:G56S;ENSP00000265052:G66S;ENSP00000381176:G56S;ENSP00000417489:G56S	ENSP00000265052:G66S	G	-	1	0	0	MGLL	128983388	128983388	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	6.278000	0.72614	2.411000	0.81874	0.467000	0.42956	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	0	0	1		2	2	2	0		0	0	87		87	83	1	2.060000	-9.573845	1	0.170000	NM_007283			10	10		392	382	0		1	1		0	0	87	0		9.965516e-01	9.982429e-01	0	35	0	410	0	10	392
KBTBD12	166348	broad.mit.edu	37	3	127646814	127646814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000405109.1	+	3	1745	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.L426L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	426										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383																																						ENST00000405109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1276-1278)ttG>ttA		kelch repeat and BTB (POZ) domain containing 12							70.0	77.0	75.0					3																	127646814		2195	4293	6488	SO:0001819	synonymous_variant	166348	0	0					g.chr3:127646814G>A		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.1278G>A	chr3.hg19:g.127646814G>A		0					KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000405256.1_Silent_p.L426L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron	p.L426L			1	2	3	1.998468	Q3ZCT8	KBTBC_HUMAN		3	1745	+			B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	1	1	hg19	c.1278G>A	CCDS33848.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.429809	1	0.170000	NM_207335			60	57		237	233	1		1			0	0	50	0		1	0	0	0	0	0	0	60	237
SEC61A1	29927	broad.mit.edu	37	3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	110					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408																																						ENST00000243253.3	1.000000	0.630000	1	7.700000e-01	0.940000	0.906752	0.940000	1.000000																										0				21						c.(328-330)Gct>Act		Sec61 alpha 1 subunit (S. cerevisiae)							67.0	68.0	68.0					3																	127775659		2203	4300	6503	SO:0001583	missense	29927	0	0					g.chr3:127775659G>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.328G>A	chr3.hg19:g.127775659G>A	ENSP00000243253:p.Ala110Thr	0					SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T	p.A110T	NM_013336.3	NP_037468.1	1	2	3	1.998468	P61619	S61A1_HUMAN		5	512	+			P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	1	1	hg19	c.328G>A	CCDS3046.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893797	0.72639	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.82517	2.595	0.80722	D	1	B	0.18166	0.026	B	0.34991	0.193	T	0.74518	-0.3639	9	0.36615	T	0.2	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	110	P61619	S61A1_HUMAN	T	116;110;57	.	ENSP00000243253:A110T	A	+	1	0	0	SEC61A1	129258349	129258349	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_013336			27	27		316	305	1		1	1		0	0	61	0		9.999999e-01	1	0	83	0	638	0	27	316
EEFSEC	60678	broad.mit.edu	37	3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	141	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)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488																																						ENST00000254730.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(421-423)Ctg>Atg		eukaryotic elongation factor, selenocysteine-tRNA-specific							184.0	185.0	185.0					3																	127965783		2203	4300	6503	SO:0001583	missense	60678	0	0					g.chr3:127965783C>A		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.421C>A	chr3.hg19:g.127965783C>A	ENSP00000254730:p.Leu141Met	0					EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	p.L141M	NM_021937.3	NP_068756.2	1	2	3	1.998468	P57772	SELB_HUMAN		2	475	+			Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	1	1	hg19	c.421C>A	CCDS33849.1	1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083757	0.20309	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;-0.6	4.95	3.0	0.34707	4.95	3.0	0.34707	Protein synthesis factor, GTP-binding (2);	0.047246	0.85682	D	0.000000	T	0.43743	0.1261	N	0.10707	0.03	0.43036	D	0.994618	B;B	0.33171	0.4;0.05	B;B	0.34779	0.189;0.136	T	0.24333	-1.0163	10	0.10377	T	0.69	-7.6761	6.5504	0.22431	0.3495:0.5574:0.0:0.0931	.	141;141	C9J8T0;P57772	.;SELB_HUMAN	M	141	ENSP00000254730:L141M;ENSP00000417660:L141M	ENSP00000254730:L141M	L	+	1	2	2	EEFSEC	129448473	129448473	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.824000	0.55723	1.053000	0.40415	0.313000	0.20887	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	1	0	1		2	2	2	0		0	0	252		252	251	1	2.060000	-20.000000	1	0.170000	NM_021937			215	210		964	949	1		1	1		0	0	252	0		1	9.994926e-01	0	16	0	35	0	215	964
EEFSEC	60678	broad.mit.edu	37	3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	556					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)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGGCTGGCCGTGGGGAGGC	0.647																																						ENST00000254730.6	1.000000	0.290000	8.000000e-01	4.100000e-01	0.570000	0.608377	0.570000	0.540000																										0				25						c.(1666-1668)Cgt>Tgt		eukaryotic elongation factor, selenocysteine-tRNA-specific							49.0	45.0	46.0					3																	128126977		2203	4299	6502	SO:0001583	missense	60678	4	121392	33				g.chr3:128126977C>T		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.1666C>T	chr3.hg19:g.128126977C>T	ENSP00000254730:p.Arg556Cys	0					EEFSEC_ENST00000483457.1_3'UTR	p.R556C	NM_021937.3	NP_068756.2	1	2	3	1.998468	P57772	SELB_HUMAN		7	1720	+			Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	1	1	hg19	c.1666C>T	CCDS33849.1	0	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081652	0.20309	.	.	ENSG00000132394	ENST00000254730	T	0.51071	0.72	4.8	2.74	0.32292	4.8	2.74	0.32292	.	0.390062	0.27460	N	0.019265	T	0.27098	0.0664	N	0.22421	0.69	0.26590	N	0.973224	P	0.51653	0.947	B	0.34452	0.183	T	0.20042	-1.0287	10	0.72032	D	0.01	-9.3772	10.2348	0.43277	0.5808:0.4192:0.0:0.0	.	556	P57772	SELB_HUMAN	C	556	ENSP00000254730:R556C	ENSP00000254730:R556C	R	+	1	0	0	EEFSEC	129609667	129609667	0.981000	0.34729	0.106000	0.21319	0.066000	0.16364	0.969000	0.29370	0.980000	0.38523	0.467000	0.42956	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-12.489350	1	0.170000	NM_021937			10	10		205	201	1		1	1		0	0	36	0		9.967904e-01	9.574384e-01	0	10	0	104	0	10	205
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A	rs374415635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	123					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)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582																																						ENST00000469083.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(367-369)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily B, member 8		A	CYS/ARG	0,4406		0,0,2203	45.0	48.0	47.0		367	-0.2	0.0	3		47	1,8599	818.9+/-406.8	0,1,4299	no	missense	DNAJB8	NM_153330.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/233	128181722	1,13005	2203	4300	6503	SO:0001583	missense	165721	8	121410	41				g.chr3:128181722G>A		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.367C>T	chr3.hg19:g.128181722G>A	ENSP00000417418:p.Arg123Cys	0					DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C	p.R123C			1	2	3	1.998468	Q8NHS0	DNJB8_HUMAN		2	2924	-			B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	1	1	hg19	c.367C>T	CCDS3048.1	1	.	.	.	.	.	.	.	.	.	.	A	0.198	-1.046853	0.01997	0.0	1.16E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73575	-0.76;-0.76	3.92	-0.192	0.13248	3.92	-0.192	0.13248	.	0.000000	0.32578	U	0.005905	T	0.54367	0.1854	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34800	-0.9814	10	0.38643	T	0.18	.	2.1147	0.03711	0.2071:0.1389:0.512:0.142	.	123	Q8NHS0	DNJB8_HUMAN	C	123	ENSP00000417418:R123C;ENSP00000316053:R123C	ENSP00000316053:R123C	R	-	1	0	0	DNAJB8	129664412	129664412	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.734000	0.26101	-0.869000	0.04052	-4.048000	0.00012	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.972837	1	0.170000	NM_153330			59	59		321	317	1		1			0	0	80	0		1	0	0	0	0	0	0	59	321
GATA2	2624	broad.mit.edu	37	3	128204709	128204709	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	244					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGGGGATGGGGTGGTGTGTAG	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2	1.000000	0.500000	1	6.500000e-01	0.830000	0.825775	0.830000	1.000000				Dom	yes			Dom	yes		3	3q21.3	3q21.3	2624	Mis	GATA binding protein 2				L	L			AML(CML blast transformation)		0				79						c.(730-732)caC>caT		GATA binding protein 2							113.0	107.0	109.0					3																	128204709		2203	4300	6503	SO:0001819	synonymous_variant	2624	0	0					g.chr3:128204709G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.732C>T	chr3.hg19:g.128204709G>A		0					GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	p.H244H	NM_032638.4	NP_116027.2	1	2	3	1.998468	P23769	GATA2_HUMAN		3	1063	-			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	1	1	hg19	c.732C>T	CCDS3049.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-19.957180	1	0.170000	NM_032638			17	16		230	226	0		1	1		0	0	48	0		9.999646e-01	6.325720e-01	0	2	0	28	0	17	230
CAND2	23066	broad.mit.edu	37	3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	328					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(982-984)gaG>gaT		cullin-associated and neddylation-dissociated 2 (putative)							139.0	145.0	143.0					3																	12854865		2109	4225	6334	SO:0001583	missense	23066	0	0					g.chr3:12854865G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.984G>T	chr3.hg19:g.12854865G>T	ENSP00000387641:p.Glu328Asp	0					CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	p.E328D	NM_001162499.1	NP_001155971.1	1	2	3	1.998468	O75155	CAND2_HUMAN		7	1025	+			B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	1	1	hg19	c.984G>T	CCDS54554.1	1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922797	0.18056	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07021	3.23;3.23	4.67	-0.724	0.11177	4.67	-0.724	0.11177	Armadillo-type fold (1);	0.190310	0.35970	N	0.002877	T	0.05640	0.0148	N	0.02420	-0.555	0.80722	D	1	B;D	0.56035	0.002;0.974	B;D	0.70487	0.006;0.969	T	0.49062	-0.8978	10	0.10111	T	0.7	-10.9144	5.4665	0.16646	0.3542:0.1424:0.5033:0.0	.	328;235	O75155;O75155-2	CAND2_HUMAN;.	D	235;328	ENSP00000295989:E235D;ENSP00000387641:E328D	ENSP00000295989:E235D	E	+	3	2	2	CAND2	12829865	12829865	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	0.983000	0.29552	0.023000	0.15187	0.462000	0.41574	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.656870	1	0.170000	XM_371617			36	35		137	136	1		1	0		0	0	45	0		1	2.846927e-01	0	0	0	5	0	36	137
CAND2	23066	broad.mit.edu	37	3	12856659	12856659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	342					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1024-1026)agC>agT		cullin-associated and neddylation-dissociated 2 (putative)							59.0	67.0	64.0					3																	12856659		2155	4252	6407	SO:0001819	synonymous_variant	23066	1	121182	33				g.chr3:12856659C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1026C>T	chr3.hg19:g.12856659C>T		0					CAND2_ENST00000295989.5_Silent_p.S249S	p.S342S	NM_001162499.1	NP_001155971.1	1	2	3	1.998468	O75155	CAND2_HUMAN		8	1067	+			B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	1	1	hg19	c.1026C>T	CCDS54554.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	XM_371617			71	70		306	296	0		1	0		0	0	82	0		1	5.277462e-01	0	0	0	9	0	71	306
CAND2	23066	broad.mit.edu	37	3	12858054	12858054	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12858054C>A	ENST00000456430.2	+	10	1664	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	CAND2_ENST00000295989.5_Silent_p.A448A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	541					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCGAGGCCCTGGTGGTGC	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2	1.000000	0.200000	6.100000e-01	3.000000e-01	0.420000	0.468347	0.420000	0.390000																										0				37						c.(1621-1623)gcC>gcA		cullin-associated and neddylation-dissociated 2 (putative)							32.0	36.0	34.0					3																	12858054		2037	4192	6229	SO:0001819	synonymous_variant	23066	0	0					g.chr3:12858054C>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1623C>A	chr3.hg19:g.12858054C>A		0					CAND2_ENST00000295989.5_Silent_p.A448A	p.A541A	NM_001162499.1	NP_001155971.1	1	2	3	1.998468	O75155	CAND2_HUMAN		10	1664	+			B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	1	1	hg19	c.1623C>A	CCDS54554.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-10.622500	1	0.170000	XM_371617			9	9		255	254	0		1	0		0	0	46	0		9.943452e-01	2.060493e-02	0	0	0	6	0	9	255
RAB7A	7879	broad.mit.edu	37	3	128514202	128514202	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000265062.3	+	2	238		c.e2-1		RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCCCTTTAGTTTGAAGGAT	0.453											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265062.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.e2-1		RAB7A, member RAS oncogene family							135.0	125.0	128.0					3																	128514202		2203	4300	6503	SO:0001630	splice_region_variant	7879	0	0					g.chr3:128514202G>A	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.-8-1G>A	chr3.hg19:g.128514202G>A		0		OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site		NM_004637.5	NP_004628.4	1	2	3	1.998468	P51149	RAB7A_HUMAN		2	238	+			A8K3V6|Q9NWJ0|Q9UPB0	Splice_Site	SNP	ENST00000265062.3	1	1	hg19		CCDS3052.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000		Intron		67	67		330	326	1		1	0		0	0	76	0		1	7.793167e-02	0	0	0	3	0	67	330
ACAD9	28976	broad.mit.edu	37	3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	296						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607																																						ENST00000308982.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(886-888)Gcc>Acc		acyl-CoA dehydrogenase family, member 9							101.0	96.0	98.0					3																	128621399		2203	4300	6503	SO:0001583	missense	28976	0	0					g.chr3:128621399G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.886G>A	chr3.hg19:g.128621399G>A	ENSP00000312618:p.Ala296Thr	0					ACAD9_ENST00000511526.1_3'UTR	p.A296T	NM_014049.4	NP_054768.2	1	2	3	1.998468	Q9H845	ACAD9_HUMAN		9	967	+			D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	1	1	hg19	c.886G>A	CCDS3053.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.578975	0.96565	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96913	-4.17	5.19	5.19	0.71726	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.90198	3.095	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	0.99533	1.0961	10	0.87932	D	0	.	16.1964	0.82029	0.0:0.0:1.0:0.0	.	173;246;296	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	T	296;163	ENSP00000312618:A296T	ENSP00000312618:A296T	A	+	1	0	0	ACAD9	130104089	130104089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.412000	0.81896	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_014049			71	69		334	328	1		1	1		0	0	78	0		1	1	0	28	0	91	0	71	334
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T	rs376957597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000265068.5	-	4	798	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	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																																						ENST00000265068.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G211C(1)	large_intestine(1)	14						c.(631-633)Ggc>Agc		KIAA1257							137.0	134.0	135.0					3																	128706495		1848	4079	5927	SO:0001583	missense	57501	0	0					g.chr3:128706495C>T	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>A	chr3.hg19:g.128706495C>T	ENSP00000265068:p.Gly211Ser	0					KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	p.G211S	NM_020741.2	NP_065792.1	1	2	3	1.998468	Q9ULG3	K1257_HUMAN		4	798	-			Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	1	1	hg19	c.631G>A	CCDS46905.1	1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110812	0.37242	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.25405	0.06;0.06	T	0.15809	-1.0424	9	0.13108	T	0.6	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	S	211;211;99	.	ENSP00000265068:G211S	G	-	1	0	0	KIAA1257	130189185	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	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.877848	1	0.170000	NM_020741			72	71		331	328	1		1	1		0	0	94	0		1	4.363892e-01	0	2	0	6	0	72	331
CAND2	23066	broad.mit.edu	37	3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H|RP11-767C1.2_ENST00000606447.1_RNA	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1169					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3505-3507)caG>caT		cullin-associated and neddylation-dissociated 2 (putative)							93.0	94.0	93.0					3																	12875277		2020	4208	6228	SO:0001583	missense	23066	0	0					g.chr3:12875277G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3507G>T	chr3.hg19:g.12875277G>T	ENSP00000387641:p.Gln1169His	0					CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H|RP11-767C1.2_ENST00000606447.1_RNA	p.Q1169H	NM_001162499.1	NP_001155971.1	1	2	3	1.998468	O75155	CAND2_HUMAN		15	3548	+			B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	1	1	hg19	c.3507G>T	CCDS54554.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317076	0.60524	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.99	3.05	0.35203	4.99	3.05	0.35203	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.984	D	0.85285	0.1064	10	0.87932	D	0	-32.9031	5.4587	0.16604	0.3121:0.0:0.6879:0.0	.	1169;1052	O75155;O75155-2	CAND2_HUMAN;.	H	1052;1169	ENSP00000295989:Q1052H;ENSP00000387641:Q1169H	ENSP00000295989:Q1052H	Q	+	3	2	2	CAND2	12850277	12850277	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.214000	0.42853	1.328000	0.45358	0.591000	0.81541	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	0	1		17	2	2	1		1	1	98		98	98	1	2.060000	-3.116507	1	0.170000	XM_371617			99	97		407	394	1		1	0		1	0	98	0		1	8.714266e-01	0	0	0	17	0	99	407
KIAA1257	57501	broad.mit.edu	37	3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597																																						ENST00000265068.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(166-168)gaG>gaT		KIAA1257							96.0	107.0	103.0					3																	128711980		2157	4257	6414	SO:0001583	missense	57501	0	0					g.chr3:128711980C>A	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.168G>T	chr3.hg19:g.128711980C>A	ENSP00000265068:p.Glu56Asp	0					KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron	p.E56D	NM_020741.2	NP_065792.1	1	2	3	1.998468	Q9ULG3	K1257_HUMAN		2	335	-			Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	1	1	hg19	c.168G>T	CCDS46905.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926960	0.34002	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-3.11	0.05299	4.37	-3.11	0.05299	.	.	.	.	.	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.37330	0.59;0.59	B;B	0.31614	0.133;0.133	T	0.14200	-1.0481	8	0.51188	T	0.08	-2.8392	2.5278	0.04695	0.4419:0.2146:0.2505:0.0929	.	56;56	Q9ULG3;D6RH05	K1257_HUMAN;.	D	56	.	ENSP00000265068:E56D	E	-	3	2	2	KIAA1257	130194670	130194670	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-0.451000	0.07097	-1.398000	0.01145	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_020741			118	117		492	486	0		1	0		0	0	109	0		1	3.806417e-02	0	0	0	2	0	118	492
GP9	2815	broad.mit.edu	37	3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	90	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682																																						ENST00000307395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(268-270)Gac>Aac		glycoprotein IX (platelet)	Quinine(DB00468)						47.0	44.0	45.0					3																	128780850		2203	4300	6503	SO:0001583	missense	2815	0	0					g.chr3:128780850G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.268G>A	chr3.hg19:g.128780850G>A	ENSP00000303942:p.Asp90Asn	0						p.D90N	NM_000174.3	NP_000165.1	1	2	3	1.998468	P14770	GPIX_HUMAN		3	490	+			Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	1	1	hg19	c.268G>A	CCDS3055.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291792	0.80914	.	.	ENSG00000169704	ENST00000307395	D	0.91068	-2.78	4.17	4.17	0.49024	4.17	4.17	0.49024	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91723	0.7383	M	0.69185	2.1	0.45791	D	0.998672	D	0.63880	0.993	P	0.52309	0.695	D	0.91489	0.5210	10	0.42905	T	0.14	-34.9611	13.9974	0.64411	0.0:0.0:1.0:0.0	.	90	P14770	GPIX_HUMAN	N	90	ENSP00000303942:D90N	ENSP00000303942:D90N	D	+	1	0	0	GP9	130263540	130263540	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.765000	0.55272	2.120000	0.65058	0.462000	0.41574	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000				61	59		304	301	1		1			0	0	60	0		1	0	0	0	0	0	0	61	304
GP9	2815	broad.mit.edu	37	3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	110	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701																																						ENST00000307395.4	1.000000	0.830000	1	9.900000e-01	0.990000	0.988219	0.990000	1.000000																										0				6						c.(328-330)caG>caT		glycoprotein IX (platelet)	Quinine(DB00468)						15.0	15.0	15.0					3																	128780912		2196	4285	6481	SO:0001583	missense	2815	0	0					g.chr3:128780912G>T		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.330G>T	chr3.hg19:g.128780912G>T	ENSP00000303942:p.Gln110His	0						p.Q110H	NM_000174.3	NP_000165.1	1	2	3	1.998468	P14770	GPIX_HUMAN		3	552	+			Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	1	1	hg19	c.330G>T	CCDS3055.1	1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233487	0.22626	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-7.05	0.01573	4.17	-7.05	0.01573	Cysteine-rich flanking region, C-terminal (1);	2.023410	0.02760	N	0.118489	T	0.82116	0.4967	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68557	-0.5377	10	0.30078	T	0.28	0.4949	8.6414	0.33978	0.0:0.1345:0.4621:0.4033	.	110	P14770	GPIX_HUMAN	H	110	ENSP00000303942:Q110H	ENSP00000303942:Q110H	Q	+	3	2	2	GP9	130263602	130263602	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.946000	0.00328	-1.210000	0.02627	0.462000	0.41574	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				21	20		173	170	0		1			0	0	26	0		9.999979e-01	0	0	0	0	0	0	21	173
CNBP	7555	broad.mit.edu	37	3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	133					cholesterol biosynthetic process (GO:0006695)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTCACTTTGGTGCAGTCTTT	0.433																																						ENST00000422453.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(397-399)aCc>aTc		CCHC-type zinc finger, nucleic acid binding protein							100.0	89.0	93.0					3																	128889940		2203	4300	6503	SO:0001583	missense	7555	0	0					g.chr3:128889940G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.398C>T	chr3.hg19:g.128889940G>A	ENSP00000410619:p.Thr133Ile	0					CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I	p.T133I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	1	2	3	1.998468	P62633	CNBP_HUMAN		4	558	-			A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	1	1	hg19	c.398C>T	CCDS3056.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792571	0.50102	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.152074	0.64402	D	0.000015	T	0.74275	0.3695	M	0.72576	2.205	0.51233	D	0.999914	P;D;P	0.54964	0.955;0.969;0.908	P;P;P	0.55785	0.784;0.675;0.776	T	0.74777	-0.3550	9	0.49607	T	0.09	-4.9209	17.4245	0.87522	0.0:0.0:1.0:0.0	.	116;126;133	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	I	126;133;134;128;116;123;135	.	ENSP00000410619:T133I	T	-	2	0	0	CNBP	130372630	130372630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.013000	0.76373	2.732000	0.93576	0.591000	0.81541	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_003418			55	54		293	289	1		1	1		0	0	65	0		1	1	0	345	0	1177	0	55	293
CNBP	7555	broad.mit.edu	37	3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	11					cholesterol biosynthetic process (GO:0006695)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463																																						ENST00000422453.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(31-33)Cga>Tga		CCHC-type zinc finger, nucleic acid binding protein							49.0	49.0	49.0					3																	128890570		2203	4300	6503	SO:0001587	stop_gained	7555	0	0					g.chr3:128890570G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.31C>T	chr3.hg19:g.128890570G>A	ENSP00000410619:p.Arg11*	0					CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*	p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	1	2	3	1.998468	P62633	CNBP_HUMAN		2	191	-			A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Nonsense_Mutation	SNP	ENST00000422453.2	0	1	hg19	c.31C>T	CCDS3056.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.241875	0.97403	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6404	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000410619:R11X	R	-	1	2	2	CNBP	130373260	130373260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.779000	0.95612	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	0	0	0		15	44	2	1		1	1	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_003418			49	48		182	180	1		1	1		1	0	51	0		9.999990e-01	1	0	204	0	655	0	49	182
CNBP	7555	broad.mit.edu	37	3	128890615	128890615	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process (GO:0006695)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GCAGTCAGATCTTTGAAATAT	0.413																																						ENST00000422453.2	1.000000	0.650000	1	8.400000e-01	0.990000	0.943934	0.990000	1.000000																										0				5						c.e2-1		CCHC-type zinc finger, nucleic acid binding protein							34.0	35.0	35.0					3																	128890615		2203	4300	6503	SO:0001630	splice_region_variant	7555	0	0					g.chr3:128890615C>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.14-1G>T	chr3.hg19:g.128890615C>A		0					CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site		NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	1	2	3	1.998468	P62633	CNBP_HUMAN		2	147	-			A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Splice_Site	SNP	ENST00000422453.2	1	1	hg19		CCDS3056.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-19.999980	1	0.170000	NM_003418	Intron		18	18		185	184	0		1	0		0	0	44	0		9.999852e-01	8.998342e-03	0	0	0	2	0	18	185
IFT122	55764	broad.mit.edu	37	3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000348417.2	+	29	3629	c.3552G>T	c.(3550-3552)aaG>aaT	p.K1184N	IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000296266.3_Missense_Mutation_p.K1235N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1184					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)				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						TCCTCATCAAGCGATGGCCCC	0.652																																						ENST00000348417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(3550-3552)aaG>aaT		intraflagellar transport 122							110.0	90.0	97.0					3																	129238491		2203	4300	6503	SO:0001583	missense	55764	0	0					g.chr3:129238491G>T	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.3552G>T	chr3.hg19:g.129238491G>T	ENSP00000324005:p.Lys1184Asn	0					IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000296266.3_Missense_Mutation_p.K1235N	p.K1184N	NM_052989.1	NP_443715.1	1	2	3	1.998468	Q9HBG6	IF122_HUMAN		29	3629	+			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	1	1	hg19	c.3552G>T	CCDS3061.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561673	0.27915	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61510	0.75;0.1;0.24;0.29;0.9;0.89;0.74;0.31	5.97	4.2	0.49525	5.97	4.2	0.49525	.	0.043465	0.85682	D	0.000000	T	0.68805	0.3041	M	0.70595	2.14	0.80722	D	1	D;D;D;P;P;P;P;P;D;D	0.67145	0.989;0.992;0.993;0.93;0.791;0.69;0.69;0.793;0.981;0.996	P;D;P;P;B;B;B;P;P;P	0.64687	0.787;0.928;0.738;0.615;0.335;0.335;0.335;0.536;0.617;0.866	T	0.65516	-0.6149	10	0.21014	T	0.42	-25.1101	10.6061	0.45394	0.2547:0.0:0.7453:0.0	.	975;510;1177;572;1061;1026;1074;1125;1184;1235	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	1125;1235;1177;1034;1061;1074;1184;1026;975	ENSP00000323973:K1125N;ENSP00000296266:K1235N;ENSP00000425536:K1177N;ENSP00000410946:K1034N;ENSP00000422179:K1061N;ENSP00000324165:K1074N;ENSP00000324005:K1184N;ENSP00000401569:K975N	ENSP00000296266:K1235N	K	+	3	2	2	IFT122	130721181	130721181	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	0.995000	0.29706	0.881000	0.35993	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	1	0	0		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_018262			72	72		329	323	1		1	1		0	0	101	0		1	9.999003e-01	0	19	0	45	0	72	329
IFT122	55764	broad.mit.edu	37	3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000348417.2	+	29	3664	c.3587G>A	c.(3586-3588)cGc>cAc	p.R1196H	IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000296266.3_Missense_Mutation_p.R1247H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1196					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)				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						CAATACTTCCGCTCACTGCTG	0.622																																						ENST00000348417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(3586-3588)cGc>cAc		intraflagellar transport 122							137.0	111.0	120.0					3																	129238526		2203	4300	6503	SO:0001583	missense	55764	0	0					g.chr3:129238526G>A	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.3587G>A	chr3.hg19:g.129238526G>A	ENSP00000324005:p.Arg1196His	0					IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000296266.3_Missense_Mutation_p.R1247H	p.R1196H	NM_052989.1	NP_443715.1	1	2	3	1.998468	Q9HBG6	IF122_HUMAN		29	3664	+			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	1	1	hg19	c.3587G>A	CCDS3061.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423331	0.83559	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.63417	0.61;-0.04;0.1;0.15;0.76;0.75;0.6;0.17	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.83223	2.63	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	0.83275	0.996;0.97;0.991;0.955;0.941;0.941;0.927;0.967;0.991;0.996	D	0.83452	0.0049	10	0.87932	D	0	-23.4214	20.428	0.99075	0.0:0.0:1.0:0.0	.	987;522;1189;584;1073;1038;1086;1137;1196;1247	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1137;1247;1189;1046;1073;1086;1196;1038;987	ENSP00000323973:R1137H;ENSP00000296266:R1247H;ENSP00000425536:R1189H;ENSP00000410946:R1046H;ENSP00000422179:R1073H;ENSP00000324165:R1086H;ENSP00000324005:R1196H;ENSP00000401569:R987H	ENSP00000296266:R1247H	R	+	2	0	0	IFT122	130721216	130721216	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.792000	0.99085	2.837000	0.97791	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	1	0	0		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_018262			81	81		422	415	1		1	1		0	0	131	0		1	9.997149e-01	0	16	0	48	0	81	422
PLXND1	23129	broad.mit.edu	37	3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000324093.4	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					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)		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						GGCCTCGATGTTCTCCCGCAG	0.642																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLXND1/TMCC1(4)	0				72						c.(4648-4650)aAc>aGc		plexin D1							55.0	51.0	52.0					3																	129281956		2203	4300	6503	SO:0001583	missense	23129	0	0					g.chr3:129281956T>C	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.4649A>G	chr3.hg19:g.129281956T>C	ENSP00000317128:p.Asn1550Ser	0					PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	p.N1550S	NM_015103.2	NP_055918	1	2	3	1.998468	Q9Y4D7	PLXD1_HUMAN		26	4827	-			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	1	1	hg19	c.4649A>G	CCDS33854.1	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038040	0.75617	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10668	2.85;2.85	5.25	5.25	0.73442	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.18923	0.0454	N	0.16790	0.44	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.87578	0.511;0.998	T	0.08554	-1.0716	10	0.42905	T	0.14	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1550	ENSP00000317128:N1550S;ENSP00000376931:N1550S	ENSP00000317128:N1550S	N	-	2	0	0	PLXND1	130764646	130764646	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.830000	0.86741	1.988000	0.58038	0.379000	0.24179	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1		2	2	2	0		0	0	35		35	32	1	2.060000	-20.000000	1	0.170000	NM_015103			53	52		203	198	1		1	1		0	0	35	0		1	1	0	12	0	261	0	53	203
PLXND1	23129	broad.mit.edu	37	3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000324093.4	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1473					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)		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						GCGGCCGAGGCGTCAATGAGG	0.592																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLXND1/TMCC1(4)	0				72						c.(4417-4419)Gcc>Acc		plexin D1							111.0	95.0	100.0					3																	129284287		2203	4300	6503	SO:0001583	missense	23129	1	121412	31				g.chr3:129284287C>T	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.4417G>A	chr3.hg19:g.129284287C>T	ENSP00000317128:p.Ala1473Thr	0					PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	p.A1473T	NM_015103.2	NP_055918	1	2	3	1.998468	Q9Y4D7	PLXD1_HUMAN		25	4595	-			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	1	1	hg19	c.4417G>A	CCDS33854.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885735	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11712	2.75;2.75	4.96	4.96	0.65561	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.142434	0.46442	D	0.000293	T	0.19644	0.0472	L	0.36672	1.1	0.44807	D	0.997812	P;D	0.69078	0.572;0.997	B;P	0.59424	0.09;0.857	T	0.00443	-1.1736	10	0.72032	D	0.01	.	13.2338	0.59958	0.1589:0.8411:0.0:0.0	.	68;1473	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1473	ENSP00000317128:A1473T;ENSP00000376931:A1473T	ENSP00000317128:A1473T	A	-	1	0	0	PLXND1	130766977	130766977	0.996000	0.38824	1.000000	0.80357	0.132000	0.20833	3.060000	0.49955	2.294000	0.77228	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_015103			79	79		325	323	1		1	1	0	0	0	78	1		1	1	0	10	1	176	0	79	325
PLXND1	23129	broad.mit.edu	37	3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000324093.4	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		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						AGTCACCACCCGCCTGCTCAC	0.612																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997655	0.990000	1.000000																									PLXND1/TMCC1(4)	0				72						c.(1525-1527)cGg>cAg		plexin D1							88.0	59.0	69.0					3																	129305525		2202	4297	6499	SO:0001583	missense	23129	4	121080	32				g.chr3:129305525C>T	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.1526G>A	chr3.hg19:g.129305525C>T	ENSP00000317128:p.Arg509Gln	0					PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	p.R509Q	NM_015103.2	NP_055918	1	2	3	1.998468	Q9Y4D7	PLXD1_HUMAN		3	1704	-			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	0	1	hg19	c.1526G>A	CCDS33854.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589062	0.28357	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.10477	2.87;2.87;3.59	4.22	0.67	0.17923	4.22	0.67	0.17923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.517808	0.18328	N	0.144595	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	B	0.33940	0.433	B	0.27796	0.083	T	0.38520	-0.9657	10	0.37606	T	0.19	.	7.5175	0.27608	0.0:0.4374:0.0:0.5626	.	509	Q9Y4D7	PLXD1_HUMAN	Q	509;509;72	ENSP00000317128:R509Q;ENSP00000376931:R509Q;ENSP00000426241:R72Q	ENSP00000317128:R509Q	R	-	2	0	0	PLXND1	130788215	130788215	0.033000	0.19621	0.016000	0.15963	0.772000	0.43724	0.364000	0.20325	0.225000	0.20959	0.407000	0.27541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-17.132700	1	0.170000	NM_015103			8	7		28	28	1		1	0		0	0	8	0		9.912302e-01	9.999721e-01	0	1	0	99	0	8	28
TMCC1	23023	broad.mit.edu	37	3	129373889	129373889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000393238.3	-	5	1909	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000432054.2_Silent_p.I199I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	523						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403																																						ENST00000393238.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLXND1/TMCC1(4)	0				25						c.(1567-1569)atC>atT		transmembrane and coiled-coil domain family 1							133.0	131.0	132.0					3																	129373889		2203	4300	6503	SO:0001819	synonymous_variant	23023	0	0					g.chr3:129373889G>A	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.1569C>T	chr3.hg19:g.129373889G>A		0					TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000432054.2_Silent_p.I199I	p.I523I	NM_001017395.3	NP_001017395.2	1	2	3	1.998468	O94876	TMCC1_HUMAN		5	1909	-			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	1	1	hg19	c.1569C>T	CCDS33855.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_015008			102	100		375	371	1		1	1		0	0	87	0		1	1	0	21	0	74	0	102	375
IQSEC1	9922	broad.mit.edu	37	3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602																																						ENST00000273221.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2167-2169)Cag>Tag		IQ motif and Sec7 domain 1							205.0	155.0	172.0					3																	12957129		2203	4300	6503	SO:0001587	stop_gained	9922	0	0					g.chr3:12957129G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2167C>T	chr3.hg19:g.12957129G>A	ENSP00000273221:p.Gln723*	0						p.Q723*	NM_014869.5	NP_055684.3	1	2	3	1.998468	Q6DN90	IQEC1_HUMAN		7	2383	-			O94863|Q96D85	Nonsense_Mutation	SNP	ENST00000273221.4	0	1	hg19	c.2167C>T	CCDS33703.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136507|8.136507	0.98672|0.98672	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48410|.	-0.9038|.	3|.	.|0.08599	.|T	.|0.76	.|.	17.6453|17.6453	0.88147|0.88147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	723|723;709;709	.|.	.|ENSP00000273221:Q723X	A|Q	-|-	2|1	0|0	0|0	IQSEC1|IQSEC1	12932129|12932129	12932129|12932129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.823000|7.823000	0.86660|0.86660	2.229000|2.229000	0.72834|0.72834	0.655000|0.655000	0.94253|0.94253	GCA|CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_014869			84	84		358	353	1		1	0		0	0	75	0		1	1	0	1	0	131	0	84	358
IQSEC1	9922	broad.mit.edu	37	3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	634	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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632																																						ENST00000273221.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1900-1902)cGc>cAc		IQ motif and Sec7 domain 1							86.0	79.0	81.0					3																	12962091		2203	4300	6503	SO:0001583	missense	9922	2	121412	35				g.chr3:12962091C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1901G>A	chr3.hg19:g.12962091C>T	ENSP00000273221:p.Arg634His	0						p.R634H	NM_014869.5	NP_055684.3	1	2	3	1.998468	Q6DN90	IQEC1_HUMAN		6	2117	-			O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	1	1	hg19	c.1901G>A	CCDS33703.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.063487	0.93898	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.57907	0.37;0.37	4.59	4.59	0.56863	4.59	4.59	0.56863	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	.	.	.	0.80722	D	1	P;D;P	0.89917	0.9;1.0;0.951	P;D;P	0.97110	0.765;1.0;0.818	T	0.78028	-0.2364	9	0.62326	D	0.03	.	17.3729	0.87383	0.0:1.0:0.0:0.0	.	620;620;634	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	634;620;620	ENSP00000273221:R634H;ENSP00000402299:R620H	ENSP00000273221:R634H	R	-	2	0	0	IQSEC1	12937091	12937091	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.721000	0.84768	2.104000	0.64026	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_014869			77	73		383	380	1		1	1		0	0	89	0		1	1	0	10	0	114	0	77	383
TMCC1	23023	broad.mit.edu	37	3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000393238.3	-	4	1212	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	291						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502																																						ENST00000393238.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PLXND1/TMCC1(4)	0				25						c.(871-873)aCt>aTt		transmembrane and coiled-coil domain family 1							154.0	145.0	148.0					3																	129389812		2203	4300	6503	SO:0001583	missense	23023	0	0					g.chr3:129389812G>A	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.872C>T	chr3.hg19:g.129389812G>A	ENSP00000376930:p.Thr291Ile	0					TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000432054.2_5'UTR	p.T291I	NM_001017395.3	NP_001017395.2	1	2	3	1.998468	O94876	TMCC1_HUMAN		4	1212	-			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	1	1	hg19	c.872C>T	CCDS33855.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360066	0.61403	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.133374	0.64402	N	0.000002	T	0.65450	0.2692	M	0.65975	2.015	0.52099	D	0.999945	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.761	T	0.63247	-0.6680	10	0.42905	T	0.14	-16.8923	14.6945	0.69110	0.0:0.0:0.8549:0.1451	.	112;291	B4DE04;O94876	.;TMCC1_HUMAN	I	291;177;112	ENSP00000376930:T291I;ENSP00000389892:T177I;ENSP00000327349:T112I	ENSP00000327349:T112I	T	-	2	0	0	TMCC1	130872502	130872502	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.208000	0.65203	2.778000	0.95560	0.591000	0.81541	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_015008			148	147		609	598	1		1	1		0	0	122	0		1	9.999999e-01	0	18	0	74	0	148	609
IQSEC1	9922	broad.mit.edu	37	3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	156	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577																																						ENST00000273221.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999605	0.990000	1.000000																										0				24						c.(466-468)Cgc>Tgc		IQ motif and Sec7 domain 1							39.0	32.0	34.0					3																	12978092		2203	4300	6503	SO:0001583	missense	9922	0	0					g.chr3:12978092G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.466C>T	chr3.hg19:g.12978092G>A	ENSP00000273221:p.Arg156Cys	0					IQSEC1_ENST00000473088.1_5'UTR	p.R156C	NM_014869.5	NP_055684.3	1	2	3	1.998468	Q6DN90	IQEC1_HUMAN		3	682	-			O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	1	1	hg19	c.466C>T	CCDS33703.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094182|4.094182	0.76870|0.76870	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.63417	.|-0.04;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80497|0.80497	0.4634|0.4634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	D|D	0.83975|0.83975	0.0329|0.0329	4|9	.|0.87932	.|D	.|0	.|.	17.558|17.558	0.87898|0.87898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;156	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	156|156;142;142	.|ENSP00000273221:R156C;ENSP00000402299:R142C	.|ENSP00000273221:R156C	A|R	-|-	2|1	0|0	0|0	IQSEC1|IQSEC1	12953092|12953092	12953092|12953092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.317000|6.317000	0.72862|0.72862	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GCG|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_014869			23	23		134	133	1		1	1		0	0	37	0		9.999996e-01	9.997900e-01	0	2	0	81	0	23	134
TRH	7200	broad.mit.edu	37	3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000302649.3	+	3	943	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	139					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(415-417)cGg>cAg		thyrotropin-releasing hormone							59.0	55.0	57.0					3																	129695746		2203	4300	6503	SO:0001583	missense	7200	1	121412	35				g.chr3:129695746G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.416G>A	chr3.hg19:g.129695746G>A	ENSP00000303452:p.Arg139Gln	0					TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	p.R139Q	NM_007117.3	NP_009048.1	1	2	3	1.998468	P20396	TRH_HUMAN		3	943	+			B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	1	1	hg19	c.416G>A	CCDS3066.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924578	0.52653	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.51071	0.72;0.72	4.55	2.71	0.32032	4.55	2.71	0.32032	.	0.175624	0.48767	D	0.000173	T	0.62816	0.2459	M	0.82323	2.585	0.37560	D	0.919025	D	0.89917	1.0	P	0.62560	0.904	T	0.65721	-0.6099	10	0.59425	D	0.04	-13.5612	6.7371	0.23415	0.1006:0.1783:0.7211:0.0	.	139	P20396	TRH_HUMAN	Q	139;135	ENSP00000303452:R139Q;ENSP00000426522:R135Q	ENSP00000303452:R139Q	R	+	2	0	0	TRH	131178436	131178436	0.974000	0.33945	1.000000	0.80357	0.284000	0.27059	1.012000	0.29924	0.440000	0.26502	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-3.352671	1	0.170000	NM_007117			83	83		396	392	1		1			0	0	72	0		1	0	0	0	0	0	0	83	396
COL6A5	256076	broad.mit.edu	37	3	130095372	130095372	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000432398.2	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000265379.6_Silent_p.T120T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	120	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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512																																						ENST00000432398.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				44						c.(358-360)acC>acA		collagen, type VI, alpha 5							64.0	61.0	62.0					3																	130095372		692	1591	2283	SO:0001819	synonymous_variant	256076	0	0					g.chr3:130095372C>A	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.360C>A	chr3.hg19:g.130095372C>A		0					COL6A5_ENST00000265379.6_Silent_p.T120T	p.T120T	NM_153264.5	NP_694996.5	1	2	3	1.998468	A8TX70	CO6A5_HUMAN		3	854	+			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	1	1	hg19	c.360C>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_153264			21	21		58	58	1		1			0	0	17	0		9.999993e-01	0	0	0	0	0	0	21	58
COL6A6	131873	broad.mit.edu	37	3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A	rs374174918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	493	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)				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						TCAATAAATACTCCAACAAGC	0.488																																						ENST00000358511.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(1477-1479)taC>taA		collagen, type VI, alpha 6							111.0	113.0	113.0					3																	130285742		1909	4120	6029	SO:0001587	stop_gained	131873	0	0					g.chr3:130285742C>A	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.1479C>A	chr3.hg19:g.130285742C>A	ENSP00000351310:p.Tyr493*	0					COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	p.Y493*	NM_001102608.1	NP_001096078.1	1	2	3	1.998468	A6NMZ7	CO6A6_HUMAN		4	1510	+			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	0	1	hg19	c.1479C>A	CCDS46911.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.822826	0.96989	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.18	1.37	0.22104	5.18	1.37	0.22104	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.0:0.6915:0.0:0.3085	.	.	.	.	X	493	.	ENSP00000351310:Y493X	Y	+	3	2	2	COL6A6	131768432	131768432	0.091000	0.21658	0.011000	0.14972	0.541000	0.35023	0.641000	0.24720	-0.033000	0.13736	-0.254000	0.11334	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_001102608			108	107		436	425	1		1			0	0	128	0		1	0	0	0	0	0	0	108	436
COL6A6	131873	broad.mit.edu	37	3	130287198	130287198	+	Silent	SNP	C	C	T	rs72992282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	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)				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						CCACCAAGGGCGCCCGGCCCA	0.498													C|||	4	0.000798722	0.003	0.0	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0					ENST00000358511.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(2149-2151)ggC>ggT		collagen, type VI, alpha 6		C		10,3860		0,10,1925	86.0	89.0	88.0		2151	-1.1	1.0	3	dbSNP_130	88	0,8256		0,0,4128	no	coding-synonymous	COL6A6	NM_001102608.1		0,10,6053	TT,TC,CC		0.0,0.2584,0.0825		717/2264	130287198	10,12116	1935	4128	6063	SO:0001819	synonymous_variant	131873	32	120856	47				g.chr3:130287198C>T	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.2151C>T	chr3.hg19:g.130287198C>T		0					COL6A6_ENST00000453409.2_Silent_p.G717G	p.G717G	NM_001102608.1	NP_001096078.1	1	2	3	1.998468	A6NMZ7	CO6A6_HUMAN		5	2182	+			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	1	1	hg19	c.2151C>T	CCDS46911.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_001102608			75	75		416	408	1		1			0	0	122	0		1	0	0	0	0	0	0	75	416
COL6A6	131873	broad.mit.edu	37	3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	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)				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						CTGGGAACTTTCATAGGTGAA	0.453																																						ENST00000358511.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(3169-3171)tTc>tCc		collagen, type VI, alpha 6							61.0	59.0	59.0					3																	130292992		1866	4114	5980	SO:0001583	missense	131873	0	0					g.chr3:130292992T>C	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.3170T>C	chr3.hg19:g.130292992T>C	ENSP00000351310:p.Phe1057Ser	0					COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	p.F1057S	NM_001102608.1	NP_001096078.1	1	2	3	1.998468	A6NMZ7	CO6A6_HUMAN		7	3201	+			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	1	1	hg19	c.3170T>C	CCDS46911.1	1	.	.	.	.	.	.	.	.	.	.	T	0.928	-0.713765	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83673	-1.75;-1.75	5.15	-0.485	0.12067	5.15	-0.485	0.12067	von Willebrand factor, type A (3);	0.310046	0.28161	N	0.016375	T	0.71459	0.3342	M	0.64676	1.99	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.53464	-0.8435	10	0.10636	T	0.68	.	4.4914	0.11815	0.4938:0.1419:0.0:0.3644	.	1057	A6NMZ7	CO6A6_HUMAN	S	1057	ENSP00000351310:F1057S;ENSP00000399236:F1057S	ENSP00000351310:F1057S	F	+	2	0	0	COL6A6	131775682	131775682	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.469000	0.22067	-0.240000	0.09696	-0.496000	0.04628	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001102608			55	55		181	180	1		1			0	0	41	0		1	0	0	0	0	0	0	55	181
PIK3R4	30849	broad.mit.edu	37	3	130405110	130405110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1140					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478																																						ENST00000356763.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3418-3420)aaG>aaA		phosphoinositide-3-kinase, regulatory subunit 4							124.0	114.0	117.0					3																	130405110		2203	4300	6503	SO:0001819	synonymous_variant	30849	0	0					g.chr3:130405110C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3420G>A	chr3.hg19:g.130405110C>T		0					PIK3R4_ENST00000512677.1_5'UTR	p.K1140K	NM_014602.2	NP_055417.1	1	2	3	1.998468	Q99570	PI3R4_HUMAN		15	3977	-			Q2TBF4	Silent	SNP	ENST00000356763.3	1	1	hg19	c.3420G>A	CCDS3067.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_014602			56	56		244	239	1		1	1		0	0	67	0		1	9.999112e-01	0	20	0	43	0	56	244
PIK3R4	30849	broad.mit.edu	37	3	130425901	130425901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130425901A>G	ENST00000356763.3	-	11	3169	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	871					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCCTGTGGCATGTTTGGTGG	0.438																																						ENST00000356763.3	1.000000	0.140000	5.500000e-01	2.300000e-01	0.360000	0.411535	0.360000	0.320000																										0				77						c.(2611-2613)aTg>aCg		phosphoinositide-3-kinase, regulatory subunit 4							132.0	116.0	121.0					3																	130425901		2203	4300	6503	SO:0001583	missense	30849	0	0					g.chr3:130425901A>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2612T>C	chr3.hg19:g.130425901A>G	ENSP00000349205:p.Met871Thr	0						p.M871T	NM_014602.2	NP_055417.1	1	2	3	1.998468	Q99570	PI3R4_HUMAN		11	3169	-			Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	0	1	hg19	c.2612T>C	CCDS3067.1	0	.	.	.	.	.	.	.	.	.	.	A	5.512	0.279403	0.10458	.	.	ENSG00000196455	ENST00000356763	T	0.39056	1.1	5.22	4.07	0.47477	5.22	4.07	0.47477	.	0.595751	0.18439	N	0.141191	T	0.21468	0.0517	N	0.08118	0	0.23076	N	0.998338	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.15066	T	0.55	-0.4871	10.7844	0.46397	0.9252:0.0:0.0748:0.0	.	871	Q99570	PI3R4_HUMAN	T	871	ENSP00000349205:M871T	ENSP00000349205:M871T	M	-	2	0	0	PIK3R4	131908591	131908591	0.959000	0.32827	0.072000	0.20136	0.684000	0.39900	4.342000	0.59341	0.837000	0.34925	0.377000	0.23210	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	0	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-7.925361	1	0.170000	NM_014602			6	6		207	201	0		1	0		0	0	31	0		9.624289e-01	6.470558e-01	0	1	0	72	0	6	207
PIK3R4	30849	broad.mit.edu	37	3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	766					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418																																						ENST00000356763.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2296-2298)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 4							91.0	97.0	95.0					3																	130435274		2203	4300	6503	SO:0001583	missense	30849	0	0					g.chr3:130435274G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2297C>T	chr3.hg19:g.130435274G>A	ENSP00000349205:p.Ala766Val	0						p.A766V	NM_014602.2	NP_055417.1	1	2	3	1.998468	Q99570	PI3R4_HUMAN		9	2854	-			Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	1	1	hg19	c.2297C>T	CCDS3067.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276871	0.59758	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.50548	0.94;0.91;0.78;0.74	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.101966	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.58432	D	0.999997	B	0.33883	0.43	B	0.30943	0.122	T	0.42327	-0.9458	10	0.37606	T	0.19	-7.1737	18.7681	0.91881	0.0:0.0:1.0:0.0	.	766	Q99570	PI3R4_HUMAN	V	766;125;125;125	ENSP00000349205:A766V;ENSP00000427302:A125V;ENSP00000424274:A125V;ENSP00000422767:A125V	ENSP00000349205:A766V	A	-	2	0	0	PIK3R4	131917964	131917964	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.659000	0.83766	2.439000	0.82584	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_014602			73	72		377	365	1		1	1		0	0	98	0		1	9.991082e-01	0	2	0	54	0	73	377
PIK3R4	30849	broad.mit.edu	37	3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318																																						ENST00000356763.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(862-864)Gaa>Taa		phosphoinositide-3-kinase, regulatory subunit 4							119.0	127.0	124.0					3																	130454718		2203	4299	6502	SO:0001587	stop_gained	30849	0	0					g.chr3:130454718C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.862G>T	chr3.hg19:g.130454718C>A	ENSP00000349205:p.Glu288*	0						p.E288*	NM_014602.2	NP_055417.1	1	2	3	1.998468	Q99570	PI3R4_HUMAN		3	1419	-			Q2TBF4	Nonsense_Mutation	SNP	ENST00000356763.3	0	1	hg19	c.862G>T	CCDS3067.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.832098	0.99275	.	.	ENSG00000196455	ENST00000356763	.	.	.	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.262537	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.9242	15.2285	0.73369	0.0:0.8598:0.1402:0.0	.	.	.	.	X	288	.	ENSP00000349205:E288X	E	-	1	0	0	PIK3R4	131937408	131937408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.138000	0.50570	2.732000	0.93576	0.591000	0.81541	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_014602			67	66		295	293	1		1	0		0	0	83	0		1	9.993986e-01	0	1	0	50	0	67	295
ATP2C1	27032	broad.mit.edu	37	3	130656302	130656302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130656302G>A	ENST00000510168.1	+	6	905	c.355G>A	c.(355-357)Gtt>Att	p.V119I	ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	119					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)			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)	AGTTGCCTTTGTTCAGGTAAG	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1	1.000000	0.120000	5.200000e-01	2.100000e-01	0.330000	0.383028	0.330000	0.300000																										0				39						c.(355-357)Gtt>Att		ATPase, Ca++ transporting, type 2C, member 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						179.0	159.0	166.0					3																	130656302		2201	4300	6501	SO:0001583	missense	27032	0	0		Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	g.chr3:130656302G>A	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.355G>A	chr3.hg19:g.130656302G>A	ENSP00000427461:p.Val119Ile	0					ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I	p.V119I			1	2	3	1.998468	P98194	AT2C1_HUMAN		6	905	+			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	0	1	hg19	c.355G>A	CCDS46914.1	0	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200581	0.58126	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.38;-2.84;-2.84;-2.84;-2.84	5.94	5.94	0.96194	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	N	0.20766	0.605	0.58432	D	0.999995	P;P;B;P;B;B;P	0.40578	0.675;0.722;0.096;0.675;0.096;0.421;0.476	B;B;B;B;B;B;B	0.41946	0.254;0.371;0.196;0.254;0.163;0.163;0.252	T	0.82504	-0.0424	10	0.12430	T	0.62	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	153;114;153;119;153;119;119	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	I	103;64;103;153;114;119;119;103;103;119;119;119;119;119;118	ENSP00000423774:V103I;ENSP00000425320:V64I;ENSP00000421326:V103I;ENSP00000376914:V153I;ENSP00000432956:V114I;ENSP00000427461:V119I;ENSP00000424783:V119I;ENSP00000423330:V103I;ENSP00000422872:V103I;ENSP00000427625:V119I;ENSP00000329664:V119I;ENSP00000395809:V119I;ENSP00000352665:V119I;ENSP00000402677:V119I	ENSP00000329664:V119I	V	+	1	0	0	ATP2C1	132138992	132138992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.386000	0.73186	2.816000	0.96949	0.561000	0.74099	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-6.744593	1	0.170000	NM_001001486			5	5		193	189	0		1	1		0	0	38	0		9.349588e-01	9.687960e-01	0	10	0	243	0	5	193
ATP2C1	27032	broad.mit.edu	37	3	130675022	130675022	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	277					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)			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)	TTGGTATAATAGGTAAGAGAA	0.338									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(829-831)atA>atC		ATPase, Ca++ transporting, type 2C, member 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						68.0	63.0	65.0					3																	130675022		2203	4300	6503	SO:0001630	splice_region_variant	27032	0	0		Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	g.chr3:130675022A>C	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.832+1A>C	chr3.hg19:g.130675022A>C		0					ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I	p.I277I			1	2	3	1.998468	P98194	AT2C1_HUMAN		11	1381	+			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Splice_Site	SNP	ENST00000510168.1	1	0	hg19	c.831A>C	CCDS46914.1	1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578922	0.46006	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9621	0.53015	0.8702:0.0:0.0:0.1298	.	.	.	.	S	231	.	.	X	+	2	0	0	ATP2C1	132157712	132157712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.428000	0.34892	2.250000	0.74265	0.533000	0.62120	TAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_001001486	Silent		52	52		171	167	1		1	1		0	0	39	0		1	1	0	58	0	191	0	52	171
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	764					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)			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)	AAACCTCCTCGCAACTGGAAA	0.343									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2290-2292)cGc>cAc		ATPase, Ca++ transporting, type 2C, member 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						144.0	146.0	146.0					3																	130716497		2203	4300	6503	SO:0001583	missense	27032	0	0		Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	g.chr3:130716497G>A	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.2291G>A	chr3.hg19:g.130716497G>A	ENSP00000427461:p.Arg764His	0					ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H	p.R764H			1	2	3	1.998468	P98194	AT2C1_HUMAN		25	2841	+			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	1	1	hg19	c.2291G>A	CCDS46914.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566092|5.566092	0.96540|0.96540	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|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	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.87|5.87	5.87|5.87	0.94306|0.94306	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99217|0.99217	0.9728|0.9728	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98977|0.98977	1.0803|1.0803	5|10	.|0.72032	.|D	.|0.01	.|.	20.1991|20.1991	0.98252|0.98252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|798;759;798;764;798;764;764	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|H	718;282|748;709;748;798;759;764;764;748;748;764;764;764;764;763	.|ENSP00000423774:R748H;ENSP00000425320:R709H;ENSP00000421326:R748H;ENSP00000376914:R798H;ENSP00000432956:R759H;ENSP00000427461:R764H;ENSP00000424783:R764H;ENSP00000423330:R748H;ENSP00000422872:R748H;ENSP00000329664:R764H;ENSP00000395809:R764H;ENSP00000352665:R764H;ENSP00000402677:R764H	.|ENSP00000329664:R764H	A|R	+|+	1|2	0|0	0|0	ATP2C1|ATP2C1	132199187|132199187	132199187|132199187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.861000|9.861000	0.99562|0.99562	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCA|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001001486			90	89		467	464	1		1	1		0	0	98	0		1	1	0	66	0	325	0	90	467
NEK11	79858	broad.mit.edu	37	3	130851590	130851590	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000510769.1	+	5	710	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000511262.1_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000429253.2_Splice_Site_p.R153G					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTTGTAGGAGGATACTTCA	0.274																																						ENST00000510769.1	1.000000	0.630000	1	9.700000e-01	0.990000	0.966489	0.990000	1.000000																										0				33						c.(457-459)Agg>Ggg		NIMA-related kinase 11							40.0	40.0	40.0					3																	130851590		2188	4259	6447	SO:0001630	splice_region_variant	79858	0	0					g.chr3:130851590A>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.456-1A>G	chr3.hg19:g.130851590A>G		0					NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000511262.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000429253.2_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G	p.R153G			1	2	3	1.998468				5	710	+				Splice_Site	SNP	ENST00000510769.1	1	0	hg19	c.457A>G		1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094369	0.56075	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;3.18;1.4;1.4	5.45	5.45	0.79879	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236288	0.28964	N	0.013571	T	0.19087	0.0458	N	0.00885	-1.115	0.52099	D	0.999945	B;P;B;B;B;B;B	0.47762	0.242;0.9;0.304;0.284;0.096;0.117;0.02	B;P;B;B;B;B;B	0.47645	0.093;0.553;0.114;0.175;0.042;0.071;0.028	T	0.46005	-0.9222	10	0.62326	D	0.03	.	13.7638	0.62981	1.0:0.0:0.0:0.0	.	153;153;5;153;153;153;153	Q8NG66-3;E9PHI8;B4DDN2;B4DM56;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;.;NEK11_HUMAN;.	G	153;153;153;153;153;153;5;153;153	ENSP00000421549:R153G;ENSP00000397180:R153G;ENSP00000349389:R153G;ENSP00000423458:R153G;ENSP00000425114:R153G;ENSP00000372857:R153G;ENSP00000411888:R5G;ENSP00000426662:R153G;ENSP00000421851:R153G	ENSP00000349389:R153G	R	+	1	2	2	NEK11	132334280	132334280	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.431000	0.34925	2.202000	0.70862	0.528000	0.53228	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-6.048444	1	0.170000	NM_024800	Missense_Mutation		6	6		42	40	1		1	1		0	0	22	0		9.637814e-01	5.730361e-01	0	8	0	6	0	6	42
NEK11	79858	broad.mit.edu	37	3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A	rs547475674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000383366.4	+	8	990	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000510769.1_Intron	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.A233P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358													G|||	3	0.000599042	0.0	0.0	5008	,	,		18012	0.0		0.0	False		,,,				2504	0.0031					ENST00000383366.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A233P(1)	lung(1)	33						c.(697-699)Gct>Act		NIMA-related kinase 11							103.0	107.0	106.0					3																	130871281		2203	4300	6503	SO:0001583	missense	79858	9	121410	41				g.chr3:130871281G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.697G>A	chr3.hg19:g.130871281G>A	ENSP00000372857:p.Ala233Thr	0					NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T	p.A233T	NM_024800.4	NP_079076.3	1	2	3	1.998468				8	990	+				Missense_Mutation	SNP	ENST00000383366.4	1	1	hg19	c.697G>A	CCDS3069.1	1	.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160429	0.06502	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	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	5.91	-3.99	0.04069	5.91	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.524667	0.17378	N	0.176402	T	0.27731	0.0682	N	0.05031	-0.125	0.26347	N	0.977277	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.001	T	0.25950	-1.0117	10	0.10377	T	0.69	.	4.8796	0.13672	0.4074:0.0:0.2913:0.3013	.	233;85;233;233;233	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	233;233;233;233;233;85;233;233	ENSP00000397180:A233T;ENSP00000349389:A233T;ENSP00000423458:A233T;ENSP00000425114:A233T;ENSP00000372857:A233T;ENSP00000411888:A85T;ENSP00000426662:A233T;ENSP00000421851:A233T	ENSP00000349389:A233T	A	+	1	0	0	NEK11	132353971	132353971	0.005000	0.15991	0.281000	0.24762	0.055000	0.15305	-0.415000	0.07106	-1.039000	0.03275	-0.787000	0.03339	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_024800			114	113		439	435	1		1	1		0	0	75	0		1	7.817318e-01	0	3	0	10	0	114	439
NEK11	79858	broad.mit.edu	37	3	130992362	130992362	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000510769.1	+	13	1600	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	NEK11_ENST00000510688.1_Intron|NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483																																						ENST00000510769.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				33						c.(1345-1347)ccA>ccC		NIMA-related kinase 11							155.0	117.0	130.0					3																	130992362		2203	4300	6503	SO:0001819	synonymous_variant	79858	0	0					g.chr3:130992362A>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1347A>C	chr3.hg19:g.130992362A>C		0					NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P	p.P449P			1	2	3	1.998468				13	1600	+				Silent	SNP	ENST00000510769.1	1	1	hg19	c.1347A>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_024800			36	34		202	200	1		1	1		0	0	46	0		1	4.132463e-01	0	4	0	5	0	36	202
NUDT16	131870	broad.mit.edu	37	3	131102014	131102014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000521288.1	+	3	448	c.417C>T	c.(415-417)ggC>ggT	p.G139G	NUDT16_ENST00000359850.3_Silent_p.G106G|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	139	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572																																						ENST00000521288.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(415-417)ggC>ggT		nudix (nucleoside diphosphate linked moiety X)-type motif 16							92.0	90.0	90.0					3																	131102014		2203	4300	6503	SO:0001819	synonymous_variant	131870	0	0					g.chr3:131102014C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.417C>T	chr3.hg19:g.131102014C>T		0					RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000359850.3_Silent_p.G106G|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G	p.G139G			1	2	3	1.998468	Q96DE0	NUD16_HUMAN		3	448	+			B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	ENST00000521288.1	1	1	hg19	c.417C>T	CCDS3070.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_152395			76	75		360	351	1		1	1		0	0	69	0		1	1	0	44	0	168	0	76	360
CPNE4	131034	broad.mit.edu	37	3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV	439	VWFA.					extracellular vesicular exosome (GO:0070062)				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						AGGATCAGCAGGATGAAGTAT	0.552																																						ENST00000512055.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1315-1317)Ctg>Atg		copine IV							79.0	73.0	75.0					3																	131261625		2203	4300	6503	SO:0001583	missense	131034	0	0					g.chr3:131261625G>T	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.1315C>A	chr3.hg19:g.131261625G>T	ENSP00000421705:p.Leu439Met	0					CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M	p.L439M			1	2	3	1.998468	Q96A23	CPNE4_HUMAN		19	3441	-			D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	1	1	hg19	c.1315C>A	CCDS3072.1	1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537760	0.65085	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	5.19	5.19	0.71726	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81807	-0.0763	10	0.87932	D	0	-12.4491	11.784	0.52032	0.1271:0.0:0.8729:0.0	.	457;439	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	439;439;457;439;457	ENSP00000421705:L439M;ENSP00000411904:L439M;ENSP00000424853:L457M;ENSP00000423811:L439M;ENSP00000421646:L457M	ENSP00000411904:L439M	L	-	1	2	2	CPNE4	132744315	132744315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.661000	0.61518	2.437000	0.82529	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_130808			58	58		210	209	1		1	0		0	0	68	0		1	4.838048e-02	0	0	0	2	0	58	210
CPNE4	131034	broad.mit.edu	37	3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M			Q96A23	CPNE4_HUMAN	copine IV	366	VWFA.					extracellular vesicular exosome (GO:0070062)				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						TGGAGGTATCCTGGCGCCAAA	0.418																																						ENST00000512055.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999913	0.990000	1.000000																										0				39						c.(1096-1098)aGg>aTg		copine IV							119.0	103.0	109.0					3																	131274360		2203	4300	6503	SO:0001583	missense	131034	0	0					g.chr3:131274360C>A	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.1097G>T	chr3.hg19:g.131274360C>A	ENSP00000421705:p.Arg366Met	0					CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M	p.R366M			1	2	3	1.998468	Q96A23	CPNE4_HUMAN		16	3223	-			D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	1	1	hg19	c.1097G>T	CCDS3072.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916781	0.73098	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.51	5.51	0.81932	5.51	5.51	0.81932	von Willebrand factor, type A (1);Copine (1);	0.198870	0.53938	D	0.000053	T	0.55289	0.1911	M	0.90019	3.08	0.50313	D	0.999867	P;D	0.58268	0.745;0.982	P;P	0.56788	0.747;0.806	T	0.65582	-0.6133	10	0.87932	D	0	-26.6481	18.1887	0.89800	0.0:1.0:0.0:0.0	.	384;366	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	366;366;384;366;384	ENSP00000421705:R366M;ENSP00000411904:R366M;ENSP00000424853:R384M;ENSP00000423811:R366M;ENSP00000421646:R384M	ENSP00000411904:R366M	R	-	2	0	0	CPNE4	132757050	132757050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	2.580000	0.87095	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-2.775803	1	0.170000	NM_130808			22	22		107	102	1		1	0		0	0	36	0		9.999990e-01	0	0	0	0	1	0	22	107
DNAJC13	23317	broad.mit.edu	37	3	132169692	132169692	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303																																						ENST00000260818.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.e6+1		DnaJ (Hsp40) homolog, subfamily C, member 13							36.0	41.0	39.0					3																	132169692		2202	4291	6493	SO:0001630	splice_region_variant	23317	0	0					g.chr3:132169692G>A	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.537+1G>A	chr3.hg19:g.132169692G>A		0					DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	1	2	3	1.998468	O75165	DJC13_HUMAN		6	785	+			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	1	1	hg19		CCDS33857.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540277	0.85917	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DNAJC13	133652382	133652382	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_015268	Intron		55	55		231	225	1		1	0		0	0	35	0		1	0	0	0	0	1	0	55	231
DNAJC13	23317	broad.mit.edu	37	3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	568					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCCTTTTTAAACTTTTTCAG	0.393																																						ENST00000260818.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1702-1704)aAa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 13							128.0	127.0	127.0					3																	132180039		2203	4300	6503	SO:0001583	missense	23317	0	0					g.chr3:132180039A>C	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.1703A>C	chr3.hg19:g.132180039A>C	ENSP00000260818:p.Lys568Thr	0					DNAJC13_ENST00000486798.1_3'UTR	p.K568T	NM_015268.3	NP_056083.3	1	2	3	1.998468	O75165	DJC13_HUMAN		15	1951	+			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	1	1	hg19	c.1703A>C	CCDS33857.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324850	0.81580	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.43	5.43	0.79202	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.77103	2.36	0.58432	D	0.999998	P;P	0.47302	0.893;0.759	B;B	0.43536	0.423;0.202	T	0.54563	-0.8275	10	0.62326	D	0.03	.	15.7657	0.78126	1.0:0.0:0.0:0.0	.	568;568	A7E2Y5;O75165	.;DJC13_HUMAN	T	568	ENSP00000260818:K568T	ENSP00000260818:K568T	K	+	2	0	0	DNAJC13	133662729	133662729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.187000	0.69744	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_015268			78	77		363	358	1		1	1		0	0	79	0		1	9.999636e-01	0	14	0	57	0	78	363
ACAD11	84129	broad.mit.edu	37	3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S|ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	753					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)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTCCATCTGCTAAACGCAAA	0.458																																						ENST00000264990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2257-2259)Gca>Tca		acyl-CoA dehydrogenase family, member 11							118.0	104.0	109.0					3																	132277901		2203	4300	6503	SO:0001583	missense	84129	0	0					g.chr3:132277901C>A	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.2257G>T	chr3.hg19:g.132277901C>A	ENSP00000264990:p.Ala753Ser	0					ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S|ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S	p.A753S	NM_032169.4	NP_115545	1	2	3	1.998468	Q709F0	ACD11_HUMAN		20	3228	-			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	1	1	hg19	c.2257G>T	CCDS3074.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972384	0.74246	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96168	-3.93;-3.93;-3.93	5.39	5.39	0.77823	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98485	0.9495	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99282	1.0896	9	0.59425	D	0.04	.	17.9556	0.89068	0.0:1.0:0.0:0.0	.	753	Q709F0	ACD11_HUMAN	S	649;753;278	ENSP00000347636:A649S;ENSP00000264990:A753S;ENSP00000446263:A278S	ENSP00000264990:A753S	A	-	1	0	0	ACAD11	133760591	133760591	1.000000	0.71417	0.961000	0.40146	0.087000	0.18053	6.602000	0.74141	2.537000	0.85549	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_032169			58	58		202	198	1		1	0		0	0	47	0		1	9.615196e-01	0	1	0	20	0	58	202
ACAD11	84129	broad.mit.edu	37	3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	643					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)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AGCGCGTTCCGCCAAACCTAC	0.463																																						ENST00000264990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1927-1929)gCg>gTg		acyl-CoA dehydrogenase family, member 11							107.0	100.0	102.0					3																	132294689		2203	4300	6503	SO:0001583	missense	84129	3	121412	40				g.chr3:132294689G>A	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.1928C>T	chr3.hg19:g.132294689G>A	ENSP00000264990:p.Ala643Val	0					ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V|ACAD11_ENST00000355458.3_Intron	p.A643V	NM_032169.4	NP_115545	1	2	3	1.998468	Q709F0	ACD11_HUMAN		17	2899	-			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	1	1	hg19	c.1928C>T	CCDS3074.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.493939	0.96339	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.97186	-4.28;-4.28	5.59	5.59	0.84812	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98748	0.9579	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	9	0.87932	D	0	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	643	Q709F0	ACD11_HUMAN	V	643;168	ENSP00000264990:A643V;ENSP00000446263:A168V	ENSP00000264990:A643V	A	-	2	0	0	ACAD11	133777379	133777379	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	9.033000	0.93741	2.615000	0.88500	0.591000	0.81541	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	0	0	1		16	3	2	1		1	1	73		73	73	1	2.060000	-3.236097	1	0.170000	NM_032169			73	73		279	274	1		1	0		1	0	73	0		1	8.967492e-01	0	1	0	23	0	73	279
ACAD11	84129	broad.mit.edu	37	3	132358437	132358437	+	Silent	SNP	G	G	A	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	201					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)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CACTCCGATAGCTGTTGCATG	0.388																																						ENST00000264990.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(601-603)Cta>Tta		acyl-CoA dehydrogenase family, member 11		G		0,4406		0,0,2203	85.0	82.0	83.0		601	4.0	0.6	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACAD11	NM_032169.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		201/781	132358437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84129	0	0					g.chr3:132358437G>A	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.601C>T	chr3.hg19:g.132358437G>A		0					ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000355458.3_Silent_p.L201L	p.L201L	NM_032169.4	NP_115545	1	2	3	1.998468	Q709F0	ACD11_HUMAN		5	1572	-			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	1	1	hg19	c.601C>T	CCDS3074.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_032169			47	46		217	212	1		1	1		0	0	64	0		1	6.597076e-01	0	3	0	9	0	47	217
UBA5	79876	broad.mit.edu	37	3	132394147	132394147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132394147G>T	ENST00000356232.4	+	9	1940	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	290					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCAATGCAGGATTTTTTTCC	0.323																																						ENST00000356232.4	1.000000	0.240000	6.400000e-01	3.400000e-01	0.460000	0.502984	0.460000	0.440000																										0				16						c.(868-870)Gat>Tat		ubiquitin-like modifier activating enzyme 5							80.0	78.0	78.0					3																	132394147		2203	4300	6503	SO:0001583	missense	79876	0	0					g.chr3:132394147G>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.868G>T	chr3.hg19:g.132394147G>T	ENSP00000348565:p.Asp290Tyr	0					UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y	p.D290Y	NM_024818.3	NP_079094.1	1	2	3	1.998468	Q9GZZ9	UBA5_HUMAN		9	1940	+			A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	1	1	hg19	c.868G>T	CCDS3076.1	0	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745354	0.89663	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.091169	0.64402	D	0.000001	T	0.69070	0.3070	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76293	-0.3012	10	0.54805	T	0.06	-31.1863	19.994	0.97377	0.0:0.0:1.0:0.0	.	290;290	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Y	234;290;290;290;234	ENSP00000264991:D234Y;ENSP00000348565:D290Y;ENSP00000417879:D290Y;ENSP00000424984:D290Y;ENSP00000418807:D234Y	ENSP00000264991:D234Y	D	+	1	0	0	UBA5	133876837	133876837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.716000	0.92895	0.591000	0.81541	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	0	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-4.071371	1	0.170000	NM_024818			11	11		282	280	0		1	1		0	0	61	0		9.983566e-01	9.094997e-01	0	9	0	101	0	11	282
NPHP3	27031	broad.mit.edu	37	3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000337331.5	-	9	1516	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	477					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413																																						ENST00000337331.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1429-1431)tTt>tGt		nephronophthisis 3 (adolescent)							258.0	266.0	263.0					3																	132423136		2203	4300	6503	SO:0001583	missense	27031	0	0					g.chr3:132423136A>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1430T>G	chr3.hg19:g.132423136A>C	ENSP00000338766:p.Phe477Cys	0					NPHP3_ENST00000476742.1_5'Flank|NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C	p.F477C	NM_153240.4	NP_694972.3	1	2	3	1.998468	Q7Z494	NPHP3_HUMAN		9	1516	-			Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	1	1	hg19	c.1430T>G	CCDS3078.1	1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246680	0.59103	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91577	-2.87;-2.75	5.77	1.57	0.23409	5.77	1.57	0.23409	.	0.342467	0.35151	N	0.003406	D	0.82861	0.5129	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.73023	-0.4113	10	0.34782	T	0.22	-13.3143	6.0096	0.19567	0.7074:0.0:0.1372:0.1554	.	477	Q7Z494	NPHP3_HUMAN	C	477	ENSP00000319909:F477C;ENSP00000338766:F477C	ENSP00000319909:F477C	F	-	2	0	0	NPHP3	133905826	133905826	0.997000	0.39634	0.333000	0.25482	0.987000	0.75469	2.987000	0.49378	0.548000	0.28955	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	1	0	1		2	2	2	0		0	0	253		253	253	1	2.060000	-20.000000	1	0.170000	NM_153240			240	236		1058	1034	1		1	1		0	0	253	0		1	9.203964e-01	0	4	0	17	0	240	1058
BFSP2	8419	broad.mit.edu	37	3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	14	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617																																						ENST00000302334.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(40-42)Gcc>Acc		beaded filament structural protein 2, phakinin							81.0	96.0	91.0					3																	133118967		2203	4300	6503	SO:0001583	missense	8419	0	0					g.chr3:133118967G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.40G>A	chr3.hg19:g.133118967G>A	ENSP00000304987:p.Ala14Thr	0						p.A14T	NM_003571.2	NP_003562.1	1	2	3	1.998468	Q13515	BFSP2_HUMAN		1	129	+			Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	1	1	hg19	c.40G>A	CCDS33859.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402705	0.25291	.	.	ENSG00000170819	ENST00000302334	D	0.83250	-1.7	5.28	-8.74	0.00838	5.28	-8.74	0.00838	.	1.046730	0.07509	N	0.908564	T	0.62974	0.2472	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	10	0.30854	T	0.27	-0.3133	0.5744	0.00701	0.3791:0.1489:0.203:0.269	.	14	Q13515	BFSP2_HUMAN	T	14	ENSP00000304987:A14T	ENSP00000304987:A14T	A	+	1	0	0	BFSP2	134601657	134601657	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-1.234000	0.02931	-1.352000	0.02194	-0.379000	0.06801	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	1	0	0		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000				99	96		449	441	1		1			0	0	99	0		1	0	0	0	0	0	0	99	449
BFSP2	8419	broad.mit.edu	37	3	133119358	133119358	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	ENST00000302334.2	+	1	520	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	144	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGCAAAGCCACACGCTCG	0.612																																						ENST00000302334.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(430-432)gCc>gAc		beaded filament structural protein 2, phakinin							30.0	36.0	34.0					3																	133119358		2203	4300	6503	SO:0001583	missense	8419	0	0					g.chr3:133119358C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.431C>A	chr3.hg19:g.133119358C>A	ENSP00000304987:p.Ala144Asp	0						p.A144D	NM_003571.2	NP_003562.1	1	2	3	1.998468	Q13515	BFSP2_HUMAN		1	520	+			Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	0	1	hg19	c.431C>A	CCDS33859.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251923	0.80135	.	.	ENSG00000170819	ENST00000302334	D	0.89343	-2.5	5.84	4.96	0.65561	5.84	4.96	0.65561	Filament (1);	0.201932	0.34906	N	0.003600	D	0.90920	0.7146	L	0.47190	1.495	0.43766	D	0.996284	D	0.58620	0.983	P	0.61658	0.892	D	0.88294	0.2945	10	0.16896	T	0.51	-15.2148	16.8975	0.86104	0.0:0.8717:0.1283:0.0	.	144	Q13515	BFSP2_HUMAN	D	144	ENSP00000304987:A144D	ENSP00000304987:A144D	A	+	2	0	0	BFSP2	134602048	134602048	1.000000	0.71417	0.203000	0.23512	0.944000	0.59088	6.969000	0.76092	1.454000	0.47793	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				43	42		163	161	0		1			0	0	34	0		1	0	0	0	0	0	0	43	163
TOPBP1	11073	broad.mit.edu	37	3	133320197	133320197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	ENST00000260810.5	-	28	4597	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1489					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)			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						AAATGAAATAGCTTCTGGTAG	0.313								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				40						c.(4465-4467)gCt>gTt	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							41.0	36.0	38.0					3																	133320197		1787	4047	5834	SO:0001583	missense	11073	0	0					g.chr3:133320197G>A	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.4466C>T	chr3.hg19:g.133320197G>A	ENSP00000260810:p.Ala1489Val	0						p.A1489V	NM_007027.3	NP_008958.2	1	2	3	1.998468	Q92547	TOPB1_HUMAN		28	4597	-			B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	0	1	hg19	c.4466C>T	CCDS46919.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032347	0.75504	.	.	ENSG00000163781	ENST00000260810	T	0.13657	2.57	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.098068	0.64402	D	0.000001	T	0.13927	0.0337	L	0.48642	1.525	0.58432	D	0.999997	P	0.46987	0.888	B	0.33568	0.166	T	0.02617	-1.1133	10	0.49607	T	0.09	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	1489	Q92547	TOPB1_HUMAN	V	1489	ENSP00000260810:A1489V	ENSP00000260810:A1489V	A	-	2	0	0	TOPBP1	134802887	134802887	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	6.952000	0.75989	2.627000	0.88993	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-17.783960	1	0.170000	NM_007027			20	20		53	53	0		1	1		0	0	11	0		9.999986e-01	9.999974e-01	0	20	0	49	0	20	53
TOPBP1	11073	broad.mit.edu	37	3	133337217	133337217	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1144					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)			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						GGTCATCCCAAATGATCTGTT	0.458								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(3430-3432)atT>atC	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							158.0	152.0	154.0					3																	133337217		1950	4160	6110	SO:0001819	synonymous_variant	11073	0	0					g.chr3:133337217A>G	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.3432T>C	chr3.hg19:g.133337217A>G		0						p.I1144I	NM_007027.3	NP_008958.2	1	2	3	1.998468	Q92547	TOPB1_HUMAN		21	3563	-			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	1	1	hg19	c.3432T>C	CCDS46919.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_007027			126	126		466	459	1		1	1		0	0	121	0		1	9.999674e-01	0	15	0	42	0	126	466
TOPBP1	11073	broad.mit.edu	37	3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1047					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)			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						TTTGATGGTGCTGACTCTTTA	0.274								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5	1.000000	0.890000	1	9.900000e-01	0.990000	0.993707	0.990000	1.000000																										0				40						c.(3139-3141)Gca>Aca	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							43.0	39.0	40.0					3																	133341974		1803	4060	5863	SO:0001583	missense	11073	0	0					g.chr3:133341974C>T	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.3139G>A	chr3.hg19:g.133341974C>T	ENSP00000260810:p.Ala1047Thr	0						p.A1047T	NM_007027.3	NP_008958.2	1	2	3	1.998468	Q92547	TOPB1_HUMAN		19	3270	-			B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	0	1	hg19	c.3139G>A	CCDS46919.1	1	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779765	0.02929	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.6	2.83	0.33086	5.6	2.83	0.33086	.	0.688503	0.15591	N	0.254401	T	0.08537	0.0212	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.43718	-0.9374	10	0.12430	T	0.62	.	6.0027	0.19529	0.0:0.6363:0.1375:0.2262	.	960;1047	A0AV47;Q92547	.;TOPB1_HUMAN	T	1047	ENSP00000260810:A1047T	ENSP00000260810:A1047T	A	-	1	0	0	TOPBP1	134824664	134824664	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.298000	0.19120	0.300000	0.22699	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-11.059060	1	0.170000	NM_007027			23	22		179	175	1		1	1		0	0	20	0		9.999994e-01	9.928179e-01	0	12	0	52	0	23	179
TOPBP1	11073	broad.mit.edu	37	3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	168	BRCT 1. {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)			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						CAAGAGGGAAGCAAAATAGGT	0.323								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(502-504)Ctt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							107.0	104.0	105.0					3																	133375563		1823	4088	5911	SO:0001583	missense	11073	0	0					g.chr3:133375563G>T	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.502C>A	chr3.hg19:g.133375563G>T	ENSP00000260810:p.Leu168Ile	0					TOPBP1_ENST00000511439.1_5'UTR	p.L168I	NM_007027.3	NP_008958.2	1	2	3	1.998468	Q92547	TOPB1_HUMAN		5	633	-			B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	1	1	hg19	c.502C>A	CCDS46919.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195804|4.195804	0.78902|0.78902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000508524|ENST00000260810	.|T	.|0.79247	.|-1.25	5.33|5.33	5.33|5.33	0.75918|0.75918	5.33|5.33	5.33|5.33	0.75918|0.75918	.|BRCT (4);	.|0.071226	.|0.56097	.|D	.|0.000021	.|D	.|0.87071	.|0.6086	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.71674	.|0.998	.|D	.|0.68765	.|0.96	.|D	.|0.85799	.|0.1372	.|10	.|0.37606	.|T	.|0.19	.|.	19.0309|19.0309	0.92957|0.92957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|Q92547	.|TOPB1_HUMAN	X|I	12|168	.|ENSP00000260810:L168I	.|ENSP00000260810:L168I	C|L	-|-	3|1	2|0	2|0	TOPBP1|TOPBP1	134858253|134858253	134858253|134858253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	TGC|CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	0	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-20.000000	1	0.170000	NM_007027			87	86		374	366	1		1	1		0	0	87	0		1	9.879896e-01	0	11	0	21	0	87	374
TF	7018	broad.mit.edu	37	3	133473446	133473446	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133473446G>A	ENST00000402696.3	+	4	918	c.433G>A	c.(433-435)Gct>Act	p.A145T	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.A18T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	145	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)			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)	AGGCAGGTCCGCTGGGTGGAA	0.527																																						ENST00000402696.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(433-435)Gct>Act		transferrin	Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)						181.0	177.0	178.0					3																	133473446		2203	4300	6503	SO:0001583	missense	7018	3	121412	39				g.chr3:133473446G>A		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.433G>A	chr3.hg19:g.133473446G>A	ENSP00000385834:p.Ala145Thr	0					TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.A18T	p.A145T	NM_001063.3	NP_001054	1	2	3	1.998468	P02787	TRFE_HUMAN		4	918	+			O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	1	0	hg19	c.433G>A	CCDS3080.1	1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561710	0.65538	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.40225	1.14;1.04;1.14	5.25	3.44	0.39384	5.25	3.44	0.39384	.	0.092655	0.85682	D	0.000000	T	0.67135	0.2861	H	0.96970	3.915	0.51767	D	0.999938	D	0.56287	0.975	P	0.54590	0.756	T	0.74093	-0.3776	10	0.72032	D	0.01	-22.3783	9.3828	0.38325	0.0762:0.0:0.7801:0.1437	.	145	P02787	TRFE_HUMAN	T	145;18;18	ENSP00000385834:A145T;ENSP00000419338:A18T;ENSP00000264998:A18T	ENSP00000264998:A18T	A	+	1	0	0	TF	134956136	134956136	1.000000	0.71417	0.099000	0.21106	0.398000	0.30690	5.236000	0.65354	0.777000	0.33496	-0.254000	0.11334	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	0	0	0		27	2	2	2		2	2	196		196	195	1	2.060000	-20.000000	1	0.170000	NM_001063			210	208		933	921	1		1			2	0	196	0		1	0	0	0	0	0	0	210	933
NUP210	23225	broad.mit.edu	37	3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1763					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612																																						ENST00000254508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(5287-5289)tCc>tTc		nucleoporin 210kDa							76.0	70.0	72.0					3																	13361358		2203	4300	6503	SO:0001583	missense	23225	0	0					g.chr3:13361358G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5288C>T	chr3.hg19:g.13361358G>A	ENSP00000254508:p.Ser1763Phe	0						p.S1763F	NM_024923.2	NP_079199.2	1	2	3	1.998468	Q8TEM1	PO210_HUMAN		37	5370	-	all_neural(104;0.187)		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	1	1	hg19	c.5288C>T	CCDS33704.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.66	4.79	0.61399	5.66	4.79	0.61399	.	0.064020	0.64402	D	0.000005	T	0.11153	0.0272	M	0.72118	2.19	0.53005	D	0.999968	P	0.35656	0.514	B	0.34590	0.186	T	0.01786	-1.1274	10	0.66056	D	0.02	-31.8634	14.5805	0.68284	0.0699:0.0:0.9301:0.0	.	1763	Q8TEM1	PO210_HUMAN	F	1763	ENSP00000254508:S1763F	ENSP00000254508:S1763F	S	-	2	0	0	NUP210	13336358	13336358	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	8.986000	0.93492	1.400000	0.46741	-0.136000	0.14681	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_024923			59	58		304	299	1		1	1		0	0	63	0		1	9.997336e-01	0	7	0	58	0	59	304
RAB6B	51560	broad.mit.edu	37	3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	190					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602																																						ENST00000285208.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(568-570)Gac>Aac		RAB6B, member RAS oncogene family							113.0	124.0	120.0					3																	133547691		2203	4300	6503	SO:0001583	missense	51560	2	121408	38				g.chr3:133547691C>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.568G>A	chr3.hg19:g.133547691C>T	ENSP00000285208:p.Asp190Asn	0					RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N	p.D190N	NM_016577.3	NP_057661.3	1	2	3	1.998468	Q9NRW1	RAB6B_HUMAN		8	917	-			B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	1	1	hg19	c.568G>A	CCDS3082.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945765	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;B	0.22541	0.03;0.071	B;B	0.17098	0.014;0.017	T	0.33548	-0.9864	10	0.36615	T	0.2	-26.509	19.1662	0.93559	0.0:1.0:0.0:0.0	.	177;190	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	190;190;177	ENSP00000285208:D190N;ENSP00000437797:D190N;ENSP00000419381:D177N	ENSP00000285208:D190N	D	-	1	0	0	RAB6B	135030381	135030381	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.380000	0.59581	2.831000	0.97527	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1	1	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-20.000000	1	0.170000				207	205		941	927	1		1	1		0	0	178	0		1	9.999793e-01	0	22	0	48	0	207	941
SLCO2A1	6578	broad.mit.edu	37	3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000310926.4	-	13	2051	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	593					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTAGGCGCAGGCCCCTCGCCT	0.597																																						ENST00000310926.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				30						c.(1777-1779)gCc>gTc		solute carrier organic anion transporter family, member 2A1	Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)						77.0	65.0	69.0					3																	133654654		2203	4300	6503	SO:0001583	missense	6578	0	0					g.chr3:133654654G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1778C>T	chr3.hg19:g.133654654G>A	ENSP00000311291:p.Ala593Val	0					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	p.A593V	NM_005630.2	NP_005621.2	1	2	3	1.998468	Q92959	SO2A1_HUMAN		13	2051	-			Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	1	1	hg19	c.1778C>T	CCDS3084.1	1	.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522622	0.04141	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205268	0.50627	D	0.000101	T	0.56790	0.2009	M	0.78344	2.41	0.45704	D	0.998616	D;D	0.59767	0.978;0.986	P;P	0.58077	0.832;0.765	T	0.52041	-0.8628	10	0.14656	T	0.56	.	13.5921	0.61966	0.076:0.0:0.924:0.0	.	517;593	E7EU40;Q92959	.;SO2A1_HUMAN	V	593;517	ENSP00000311291:A593V;ENSP00000418893:A517V	ENSP00000311291:A593V	A	-	2	0	0	SLCO2A1	135137344	135137344	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.218000	0.58554	2.802000	0.96397	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_005630			26	25		139	138	1		1	0		0	0	42	0		1	9.993770e-01	0	0	0	66	0	26	139
NUP210	23225	broad.mit.edu	37	3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592																																						ENST00000254508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3442-3444)gaG>gaT		nucleoporin 210kDa							107.0	102.0	104.0					3																	13381381		2203	4300	6503	SO:0001583	missense	23225	0	0					g.chr3:13381381C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3444G>T	chr3.hg19:g.13381381C>A	ENSP00000254508:p.Glu1148Asp	0					NUP210_ENST00000485755.1_5'UTR	p.E1148D	NM_024923.2	NP_079199.2	1	2	3	1.998468	Q8TEM1	PO210_HUMAN		25	3526	-	all_neural(104;0.187)		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	1	1	hg19	c.3444G>T	CCDS33704.1	1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140653	0.21205	.	.	ENSG00000132182	ENST00000254508	T	0.43688	0.94	5.19	3.38	0.38709	5.19	3.38	0.38709	Bacterial Ig-like, group 2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28740	0.885	0.50313	D	0.999862	D	0.69078	0.997	D	0.66497	0.944	T	0.35699	-0.9778	10	0.11794	T	0.64	-27.8704	5.6999	0.17877	0.0:0.6331:0.1434:0.2235	.	1148	Q8TEM1	PO210_HUMAN	D	1148	ENSP00000254508:E1148D	ENSP00000254508:E1148D	E	-	3	2	2	NUP210	13356381	13356381	1.000000	0.71417	0.880000	0.34516	0.450000	0.32258	0.943000	0.29030	0.574000	0.29417	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-5.981383	1	0.170000	NM_024923			192	188		605	596	1		1	1		0	0	138	0		1	9.997833e-01	0	8	0	33	0	192	605
SLCO2A1	6578	broad.mit.edu	37	3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	rs201131796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000310926.4	-	4	682	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCTGCAAGCGGCTGTTGTTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.001	False		,,,				2504	0.0					ENST00000310926.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(409-411)Cgc>Tgc		solute carrier organic anion transporter family, member 2A1	Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)						42.0	42.0	42.0					3																	133674026		2203	4300	6503	SO:0001583	missense	6578	8	121412	39				g.chr3:133674026G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.409C>T	chr3.hg19:g.133674026G>A	ENSP00000311291:p.Arg137Cys	0					SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	p.R137C	NM_005630.2	NP_005621.2	1	2	3	1.998468	Q92959	SO2A1_HUMAN		4	682	-			Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	1	1	hg19	c.409C>T	CCDS3084.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.88	1.770573	0.31320	.	.	ENSG00000174640	ENST00000310926	T	0.39997	1.05	5.5	-1.39	0.08997	5.5	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.24122	0.0584	N	0.02539	-0.55	0.24042	N	0.996072	P	0.52170	0.951	P	0.47645	0.553	T	0.07751	-1.0756	10	0.56958	D	0.05	.	4.404	0.11400	0.0672:0.2301:0.3555:0.3473	.	137	Q92959	SO2A1_HUMAN	C	137	ENSP00000311291:R137C	ENSP00000311291:R137C	R	-	1	0	0	SLCO2A1	135156716	135156716	0.022000	0.18835	0.035000	0.18076	0.028000	0.11728	0.087000	0.14958	-0.253000	0.09514	-0.502000	0.04539	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_005630			42	41		163	159	1		1	0		0	0	26	0		1	9.994881e-01	0	0	0	48	0	42	163
AMOTL2	51421	broad.mit.edu	37	3	134080624	134080624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	ENST00000422605.2	-	6	1471	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	AMOTL2_ENST00000513145.1_Silent_p.E435E|AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000514516.1_Silent_p.E493E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	435					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCAGCTTCTCTTGCTCCT	0.652																																						ENST00000422605.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998312	0.990000	1.000000																										0				19						c.(1303-1305)gaG>gaA		angiomotin like 2							12.0	12.0	12.0					3																	134080624		2179	4270	6449	SO:0001819	synonymous_variant	51421	0	0					g.chr3:134080624C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1305G>A	chr3.hg19:g.134080624C>T		0					AMOTL2_ENST00000513145.1_Silent_p.E435E|AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000514516.1_Silent_p.E493E	p.E435E			1	2	3	1.998468	Q9Y2J4	AMOL2_HUMAN		6	1471	-			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	0	1	hg19	c.1305G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.969820	1	0.170000	NM_016201			11	11		50	49	1		1	1		0	0	14	0		9.987443e-01	9.797455e-01	0	7	0	27	0	11	50
NUP210	23225	broad.mit.edu	37	3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T	rs555632447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	364					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		15670	0.0		0.0	False		,,,				2504	0.0031					ENST00000254508.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1090-1092)cGc>cAc		nucleoporin 210kDa							136.0	134.0	135.0					3																	13419017		2203	4300	6503	SO:0001583	missense	23225	73	121412	51				g.chr3:13419017C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1091G>A	chr3.hg19:g.13419017C>T	ENSP00000254508:p.Arg364His	0						p.R364H	NM_024923.2	NP_079199.2	1	2	3	1.998468	Q8TEM1	PO210_HUMAN		9	1173	-	all_neural(104;0.187)		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	1	1	hg19	c.1091G>A	CCDS33704.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804583	0.31869	.	.	ENSG00000132182	ENST00000254508	T	0.05649	3.41	4.93	4.04	0.47022	4.93	4.04	0.47022	.	0.111045	0.64402	N	0.000013	T	0.08179	0.0204	M	0.62016	1.91	0.51482	D	0.999925	B;B	0.32128	0.131;0.357	B;B	0.23716	0.042;0.048	T	0.08994	-1.0695	10	0.51188	T	0.08	.	12.0113	0.53289	0.0:0.9134:0.0:0.0866	.	364;364	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	364	ENSP00000254508:R364H	ENSP00000254508:R364H	R	-	2	0	0	NUP210	13394017	13394017	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	5.529000	0.67135	1.040000	0.40099	0.591000	0.81541	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1		2	2	2	0		0	0	185		185	183	1	2.060000	-20.000000	1	0.170000	NM_024923			136	135		744	730	1		1	1		0	0	185	0		1	9.780675e-01	0	6	0	29	0	136	744
AMOTL2	51421	broad.mit.edu	37	3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T	rs183770550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000422605.2	-	5	1427	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0					ENST00000422605.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1261-1263)Gcc>Acc		angiomotin like 2							92.0	89.0	90.0					3																	134084677		2203	4300	6503	SO:0001583	missense	51421	1	121412	30				g.chr3:134084677C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1261G>A	chr3.hg19:g.134084677C>T	ENSP00000409999:p.Ala421Thr	0					AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T	p.A421T			1	2	3	1.998468	Q9Y2J4	AMOL2_HUMAN		5	1427	-			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	1	1	hg19	c.1261G>A		1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.6	4.311178	0.81358	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.123656	0.56097	D	0.000030	T	0.31702	0.0805	L	0.52573	1.65	0.58432	D	0.99999	D;D;D	0.56521	0.975;0.975;0.976	P;P;P	0.49799	0.591;0.591;0.622	T	0.01904	-1.1250	10	0.39692	T	0.17	-17.4922	12.9886	0.58606	0.1614:0.8386:0.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	421;421;479;421	ENSP00000249883:A421T;ENSP00000409999:A421T;ENSP00000424765:A479T;ENSP00000425475:A421T	ENSP00000249883:A421T	A	-	1	0	0	AMOTL2	135567367	135567367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.032000	0.64140	2.465000	0.83290	0.455000	0.32223	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_016201			80	80		430	422	1		1	1		0	0	104	0		1	9.999283e-01	0	23	0	53	0	80	430
CEP63	80254	broad.mit.edu	37	3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	46					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388																																						ENST00000337090.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(136-138)cGt>cAt		centrosomal protein 63kDa							125.0	123.0	123.0					3																	134226043		2203	4300	6503	SO:0001583	missense	80254	10	121412	44				g.chr3:134226043G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.137G>A	chr3.hg19:g.134226043G>A	ENSP00000336524:p.Arg46His	0					CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H	p.R46H			1	2	3	1.998468	Q96MT8	CEP63_HUMAN		3	310	+			D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	1	1	hg19	c.137G>A	CCDS3086.1	1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993294	0.54041	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.24538	1.93;1.93;1.93;1.93;1.93;1.85;1.93	5.25	2.9	0.33743	5.25	2.9	0.33743	.	0.127443	0.53938	D	0.000052	T	0.11367	0.0277	N	0.08118	0	0.21499	N	0.999661	P;P;B;P	0.50272	0.916;0.933;0.098;0.567	B;B;B;B	0.38428	0.273;0.265;0.04;0.102	T	0.11012	-1.0605	10	0.72032	D	0.01	-7.3674	8.4607	0.32925	0.835:0.0:0.165:0.0	.	46;46;46;46	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	46	ENSP00000328382:R46H;ENSP00000346432:R46H;ENSP00000424626:R46H;ENSP00000336524:R46H;ENSP00000372716:R46H;ENSP00000423225:R46H;ENSP00000426129:R46H	ENSP00000328382:R46H	R	+	2	0	0	CEP63	135708733	135708733	1.000000	0.71417	0.983000	0.44433	0.840000	0.47671	4.443000	0.59994	0.416000	0.25844	-0.302000	0.09304	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.318794	1	0.170000	NM_025180			81	81		334	319	1		1	1		0	0	68	0		1	9.999950e-01	0	21	0	54	0	81	334
KY	339855	broad.mit.edu	37	3	134322952	134322952	+	Silent	SNP	G	G	A	rs200535303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000423778.2	-	11	1516	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S464S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	485					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0					ENST00000423778.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				21						c.(1453-1455)agC>agT		kyphoscoliosis peptidase		G		1,4129		0,1,2064	26.0	28.0	27.0		1455	-8.0	0.7	3		27	0,8390		0,0,4195	no	coding-synonymous	KY	NM_178554.4		0,1,6259	AA,AG,GG		0.0,0.0242,0.0080		485/662	134322952	1,12519	2065	4195	6260	SO:0001819	synonymous_variant	339855	5	120998	33				g.chr3:134322952G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1455C>T	chr3.hg19:g.134322952G>A		0					KY_ENST00000508956.1_Silent_p.S464S|KY_ENST00000503669.1_3'UTR	p.S485S	NM_178554.4	NP_848649.3	1	2	3	1.998468	Q8NBH2	KY_HUMAN		11	1516	-			B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	1	1	hg19	c.1455C>T	CCDS46920.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	0		2	2	2	0		0	0	20		20	18	1	2.060000	-20.000000	1	0.170000	NM_178554			21	20		95	92	1		1			0	0	20	0		9.999983e-01	0	0	0	0	0	0	21	95
KY	339855	broad.mit.edu	37	3	134322979	134322979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000423778.2	-	11	1489	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S455S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	476					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632																																						ENST00000423778.2	1.000000	0.630000	1	8.900000e-01	0.990000	0.956282	0.990000	1.000000																										0				21						c.(1426-1428)agC>agT		kyphoscoliosis peptidase							24.0	27.0	26.0					3																	134322979		2071	4182	6253	SO:0001819	synonymous_variant	339855	1	120944	23				g.chr3:134322979G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1428C>T	chr3.hg19:g.134322979G>A		0					KY_ENST00000508956.1_Silent_p.S455S|KY_ENST00000503669.1_3'UTR	p.S476S	NM_178554.4	NP_848649.3	1	2	3	1.998468	Q8NBH2	KY_HUMAN		11	1489	-			B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	0	1	hg19	c.1428C>T	CCDS46920.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-16.849140	1	0.170000	NM_178554			10	10		89	87	1		1			0	0	16	0		9.970820e-01	0	0	0	0	0	0	10	89
KY	339855	broad.mit.edu	37	3	134362215	134362215	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	69					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547																																						ENST00000423778.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(205-207)Ttg>Ctg		kyphoscoliosis peptidase							70.0	79.0	77.0					3																	134362215		1948	4136	6084	SO:0001819	synonymous_variant	339855	0	0					g.chr3:134362215A>G	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.205T>C	chr3.hg19:g.134362215A>G		0					KY_ENST00000508956.1_Intron|KY_ENST00000503669.1_Silent_p.L69L	p.L69L	NM_178554.4	NP_848649.3	1	2	3	1.998468	Q8NBH2	KY_HUMAN		3	266	-			B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	1	1	hg19	c.205T>C	CCDS46920.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_178554			31	31		130	128	1		1			0	0	39	0		1	0	0	0	0	0	0	31	130
PPP2R3A	5523	broad.mit.edu	37	3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	505					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)			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						ATTCCAGTAGCCAGGAAGAGA	0.343																																						ENST00000264977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1513-1515)agC>agA		protein phosphatase 2, regulatory subunit B'', alpha							50.0	55.0	53.0					3																	135721855		2199	4294	6493	SO:0001583	missense	5523	0	0					g.chr3:135721855C>A	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.1515C>A	chr3.hg19:g.135721855C>A	ENSP00000264977:p.Ser505Arg	0					PPP2R3A_ENST00000490467.1_Intron	p.S505R	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	1	2	3	1.998468	Q06190	P2R3A_HUMAN		2	2132	+			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	1	1	hg19	c.1515C>A	CCDS3087.1	1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534559	0.04082	.	.	ENSG00000073711	ENST00000264977	T	0.05513	3.43	5.29	1.53	0.23141	5.29	1.53	0.23141	.	0.437967	0.27627	N	0.018532	T	0.05090	0.0136	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37596	-0.9699	10	0.35671	T	0.21	.	7.1396	0.25548	0.0:0.4198:0.0:0.5802	.	505	Q06190	P2R3A_HUMAN	R	505	ENSP00000264977:S505R	ENSP00000264977:S505R	S	+	3	2	2	PPP2R3A	137204545	137204545	1.000000	0.71417	0.992000	0.48379	0.335000	0.28730	0.642000	0.24735	0.373000	0.24621	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_002718			71	71		312	309	1		1	1		0	0	78	0		1	7.219069e-01	0	2	0	11	0	71	312
PPP2R3A	5523	broad.mit.edu	37	3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	637					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)			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						CCAGGCCAATTTATCAGTCTG	0.418																																						ENST00000264977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1909-1911)Tta>Gta		protein phosphatase 2, regulatory subunit B'', alpha							85.0	81.0	82.0					3																	135722249		2202	4300	6502	SO:0001583	missense	5523	0	0					g.chr3:135722249T>G	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.1909T>G	chr3.hg19:g.135722249T>G	ENSP00000264977:p.Leu637Val	0					PPP2R3A_ENST00000490467.1_Intron	p.L637V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	1	2	3	1.998468	Q06190	P2R3A_HUMAN		2	2526	+			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	1	1	hg19	c.1909T>G	CCDS3087.1	1	.	.	.	.	.	.	.	.	.	.	T	0.428	-0.904797	0.02453	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.57	-1.4	0.08968	5.57	-1.4	0.08968	.	1.303650	0.05116	N	0.489740	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.19147	T	0.46	.	0.2744	0.00236	0.2782:0.1742:0.286:0.2616	.	637	Q06190	P2R3A_HUMAN	V	637	ENSP00000264977:L637V	ENSP00000264977:L637V	L	+	1	2	2	PPP2R3A	137204939	137204939	0.000000	0.05858	0.507000	0.27676	0.939000	0.58152	-0.008000	0.12788	-0.146000	0.11274	0.460000	0.39030	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_002718			78	76		335	329	1		1	1		0	0	97	0		1	7.349788e-01	0	4	0	9	0	78	335
PPP2R3A	5523	broad.mit.edu	37	3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T	rs200412700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1071					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)			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						GATCCCTTTGCGGTCCAGAAG	0.413																																						ENST00000264977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3211-3213)gCg>gTg		protein phosphatase 2, regulatory subunit B'', alpha							81.0	79.0	79.0					3																	135822208		2203	4300	6503	SO:0001583	missense	5523	2	121408	25				g.chr3:135822208C>T	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.3212C>T	chr3.hg19:g.135822208C>T	ENSP00000264977:p.Ala1071Val	0					PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000469270.1_3'UTR	p.A1071V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	1	2	3	1.998468	Q06190	P2R3A_HUMAN		12	3829	+			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	1	1	hg19	c.3212C>T	CCDS3087.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928315	0.92389	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.25414	3.19;1.8;2.11	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.62382	0.796;0.901	T	0.18524	-1.0334	10	0.51188	T	0.08	.	18.4735	0.90783	0.0:1.0:0.0:0.0	.	450;1071	Q06190-2;Q06190	.;P2R3A_HUMAN	V	1071;335;450	ENSP00000264977:A1071V;ENSP00000419344:A335V;ENSP00000334748:A450V	ENSP00000264977:A1071V	A	+	2	0	0	PPP2R3A	137304898	137304898	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.776000	0.85560	2.677000	0.91161	0.561000	0.74099	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-3.383522	1	0.170000	NM_002718			63	63		237	236	1		1	1		0	0	46	0		1	9.936420e-01	0	12	0	20	0	63	237
MSL2	55167	broad.mit.edu	37	3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	394					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)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428																																						ENST00000309993.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1180-1182)aCa>aTa		male-specific lethal 2 homolog (Drosophila)							152.0	151.0	151.0					3																	135870542		2203	4300	6503	SO:0001583	missense	55167	1	121412	34				g.chr3:135870542G>A	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.1181C>T	chr3.hg19:g.135870542G>A	ENSP00000311827:p.Thr394Ile	0					MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	p.T394I	NM_018133.3	NP_060603.2	1	2	3	1.998468	Q9HCI7	MSL2_HUMAN		2	1913	-			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	1	1	hg19	c.1181C>T	CCDS33861.1	1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338085	0.11013	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.84	4.06	0.47325	5.84	4.06	0.47325	.	0.408916	0.26796	N	0.022447	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14531	-1.0469	9	0.19590	T	0.45	-1.9985	11.9761	0.53091	0.14:0.0:0.86:0.0	.	394	Q9HCI7	MSL2_HUMAN	I	394;320	.	ENSP00000311827:T394I	T	-	2	0	0	MSL2	137353232	137353232	0.998000	0.40836	0.016000	0.15963	0.876000	0.50452	5.843000	0.69424	0.818000	0.34468	0.551000	0.68910	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_018133			91	87		389	384	1		1	1		0	0	97	0		1	9.999684e-01	0	11	0	55	0	91	389
STAG1	10274	broad.mit.edu	37	3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000383202.2	-	29	3417	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1054					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)			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						TTCACCCCCAGTGACTAATGA	0.418																																						ENST00000383202.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3160-3162)aCt>aTt		stromal antigen 1							130.0	118.0	122.0					3																	136068110		2203	4300	6503	SO:0001583	missense	10274	0	0					g.chr3:136068110G>A	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.3161C>T	chr3.hg19:g.136068110G>A	ENSP00000372689:p.Thr1054Ile	0					STAG1_ENST00000434713.2_Missense_Mutation_p.T794I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I	p.T1054I	NM_005862.2	NP_005853.2	1	2	3	1.998468	Q8WVM7	STAG1_HUMAN		29	3417	-			O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	1	1	hg19	c.3161C>T	CCDS3090.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073453	0.76415	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31510	1.9;1.9;1.9;1.49	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.40543	1.245	0.80722	D	1	B;B	0.26708	0.007;0.157	B;B	0.22601	0.009;0.04	T	0.02064	-1.1220	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1054;1054	Q6P275;Q8WVM7	.;STAG1_HUMAN	I	1054;1054;794;638	ENSP00000372689:T1054I;ENSP00000236698:T1054I;ENSP00000404396:T794I;ENSP00000445787:T638I	ENSP00000236698:T1054I	T	-	2	0	0	STAG1	137550800	137550800	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_005862			101	99		368	365	1		1	1		0	0	96	0		1	9.999999e-01	0	19	0	70	0	101	368
STAG1	10274	broad.mit.edu	37	3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000383202.2	-	26	3027	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000434713.2_Intron	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	924					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)			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						CAAACTGAGAATGAGAGTCTT	0.358																																						ENST00000383202.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				58						c.(2770-2772)aTt>aCt		stromal antigen 1							156.0	149.0	151.0					3																	136082224		2203	4300	6503	SO:0001583	missense	10274	0	0					g.chr3:136082224A>G	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.2771T>C	chr3.hg19:g.136082224A>G	ENSP00000372689:p.Ile924Thr	0					STAG1_ENST00000434713.2_Intron|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T	p.I924T	NM_005862.2	NP_005853.2	1	2	3	1.998468	Q8WVM7	STAG1_HUMAN		26	3027	-			O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	1	1	hg19	c.2771T>C	CCDS3090.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144665	0.77888	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.33865	1.8;1.83;1.39	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.786	P;B	0.60949	0.881;0.368	T	0.58482	-0.7629	10	0.42905	T	0.14	.	15.2501	0.73539	1.0:0.0:0.0:0.0	.	924;924	Q6P275;Q8WVM7	.;STAG1_HUMAN	T	924;924;508	ENSP00000372689:I924T;ENSP00000236698:I924T;ENSP00000445787:I508T	ENSP00000236698:I924T	I	-	2	0	0	STAG1	137564914	137564914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.006000	0.58801	0.454000	0.30748	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005862			38	37		191	186	1		1	1		0	0	43	0		1	9.999062e-01	0	15	0	59	0	38	191
FBLN2	2199	broad.mit.edu	37	3	13660486	13660486	+	Silent	SNP	G	G	A	rs545435806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000295760.7	+	7	2091	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P|FBLN2_ENST00000404922.3_Silent_p.P674P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	674					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622													G|||	25	0.00499201	0.0	0.0	5008	,	,		17157	0.0		0.0	False		,,,				2504	0.0256					ENST00000295760.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999544	0.990000	1.000000																										0				24						c.(2020-2022)ccG>ccA		fibulin 2							25.0	30.0	28.0					3																	13660486		1957	4157	6114	SO:0001819	synonymous_variant	2199	428	120882	52				g.chr3:13660486G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2022G>A	chr3.hg19:g.13660486G>A		0					FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000404922.3_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P	p.P674P	NM_001998.2	NP_001989.2	1	2	3	1.998468	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)	7	2091	+			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	1	1	hg19	c.2022G>A	CCDS46762.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	1	0	1		2	2	6	0		0	0	24		24	24	1	2.060000	-2.664464	1	0.170000	NM_001004019			16	15		77	74	1		1	0	1	0	1	24	1422		9.999437e-01	1	1	0	297	188	1212	16	77
STAG1	10274	broad.mit.edu	37	3	136087969	136087969	+	Silent	SNP	G	G	A	rs199613871		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000383202.2	-	24	2782	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000434713.2_Silent_p.D616D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	842					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)			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						GGTTCTCCTCGTCTTGGTCAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16021	0.0		0.001	False		,,,				2504	0.0					ENST00000383202.2	1.000000	0.690000	1	8.600000e-01	0.990000	0.952374	0.990000	1.000000																										0				58						c.(2524-2526)gaC>gaT		stromal antigen 1		G		0,4406		0,0,2203	72.0	69.0	70.0		2526	0.4	1.0	3		70	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	STAG1	NM_005862.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		842/1259	136087969	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	10274	55	121404	46				g.chr3:136087969G>A	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.2526C>T	chr3.hg19:g.136087969G>A		0					STAG1_ENST00000434713.2_Silent_p.D616D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000536929.1_Silent_p.D426D	p.D842D	NM_005862.2	NP_005853.2	1	2	3	1.998468	Q8WVM7	STAG1_HUMAN		24	2782	-			O00539|Q6P275	Silent	SNP	ENST00000383202.2	1	1	hg19	c.2526C>T	CCDS3090.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_005862			21	20		213	212	0		1	1		0	0	39	0		9.999979e-01	9.756687e-01	0	6	0	57	0	21	213
NCK1	4690	broad.mit.edu	37	3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000481752.1	+	3	472	c.308G>A	c.(307-309)cGt>cAt	p.R103H	NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000469404.1_Missense_Mutation_p.R39H			P16333	NCK1_HUMAN	NCK adaptor protein 1	103					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)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418																																						ENST00000481752.1	1.000000	0.560000	9.900000e-01	6.700000e-01	0.810000	0.821062	0.810000	1.000000																										0				13						c.(307-309)cGt>cAt		NCK adaptor protein 1							120.0	121.0	121.0					3																	136664506		2203	4300	6503	SO:0001583	missense	4690	1	121412	34				g.chr3:136664506G>A	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.308G>A	chr3.hg19:g.136664506G>A	ENSP00000417273:p.Arg103His	0					NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000469404.1_Missense_Mutation_p.R39H	p.R103H			1	2	3	1.998468	P16333	NCK1_HUMAN		3	472	+			B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	1	1	hg19	c.308G>A	CCDS3092.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808386|3.808386	0.70797|0.70797	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911|ENST00000496489	T;T;T;T;T;T;T|.	0.69306|.	-0.34;-0.34;1.3;1.09;2.29;-0.39;2.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	6.16|6.16	6.16|6.16	0.99307|0.99307	Src homology-3 domain (1);|.	0.055856|.	0.64402|.	D|.	0.000001|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.915|.	D;B|.	0.72625|.	0.978;0.21|.	T|T	0.71646|0.71646	-0.4530|-0.4530	10|5	0.21014|.	T|.	0.42|.	-23.5168|-23.5168	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;103|.	B7Z751;P16333|.	.;NCK1_HUMAN|.	H|I	103;103;103;103;103;39;39|91	ENSP00000288986:R103H;ENSP00000417273:R103H;ENSP00000419302:R103H;ENSP00000419677:R103H;ENSP00000417729:R103H;ENSP00000419631:R39H;ENSP00000418060:R39H|.	ENSP00000288986:R103H|.	R|V	+|+	2|1	0|0	0|0	NCK1|NCK1	138147196|138147196	138147196|138147196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.367000|9.367000	0.97148|0.97148	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	0		2	2	2	0		0	0	94		94	93	1	2.060000	-8.243186	1	0.170000	NM_006153			31	30		425	416	1		1	1		0	0	94	0		1	9.998146e-01	0	21	0	158	0	31	425
NCK1	4690	broad.mit.edu	37	3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000481752.1	+	3	495	c.331G>A	c.(331-333)Gct>Act	p.A111T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000469404.1_Missense_Mutation_p.A47T			P16333	NCK1_HUMAN	NCK adaptor protein 1	111					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)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438																																						ENST00000481752.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(331-333)Gct>Act		NCK adaptor protein 1							148.0	147.0	147.0					3																	136664529		2203	4300	6503	SO:0001583	missense	4690	0	0					g.chr3:136664529G>A	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.331G>A	chr3.hg19:g.136664529G>A	ENSP00000417273:p.Ala111Thr	0					NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000469404.1_Missense_Mutation_p.A47T	p.A111T			1	2	3	1.998468	P16333	NCK1_HUMAN		3	495	+			B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	1	1	hg19	c.331G>A	CCDS3092.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183921	0.78677	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.40756	1.37;1.37;1.05;1.02;2.09;1.37;2.09	6.16	6.16	0.99307	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.65088	-0.6253	10	0.66056	D	0.02	-14.2769	18.3537	0.90348	0.0:0.0:1.0:0.0	.	47;111	B7Z751;P16333	.;NCK1_HUMAN	T	111;111;111;111;111;47;47	ENSP00000288986:A111T;ENSP00000417273:A111T;ENSP00000419302:A111T;ENSP00000419677:A111T;ENSP00000417729:A111T;ENSP00000419631:A47T;ENSP00000418060:A47T	ENSP00000288986:A111T	A	+	1	0	0	NCK1	138147219	138147219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.937000	0.99478	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	0		2	2	2	0		0	0	107		107	106	1	2.060000	-3.388296	1	0.170000	NM_006153			107	105		438	430	1		1	1		0	0	107	0		1	1	0	46	0	135	0	107	438
FBLN2	2199	broad.mit.edu	37	3	13672837	13672837	+	Missense_Mutation	SNP	G	G	A	rs367781349		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13672837G>A	ENST00000295760.7	+	15	3022	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E1032K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	985	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACATCGACGAGTGTGCTCA	0.617																																						ENST00000295760.7	1.000000	0.280000	1	5.000000e-01	0.830000	0.780398	0.830000	1.000000																										0				24						c.(2953-2955)Gag>Aag		fibulin 2		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4276		0,0,2138	29.0	33.0	32.0		3094,3094,2953	5.4	1.0	3		32	1,8485		0,1,4242	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	56,56,56	0,1,6380	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging	1032/1232,1032/1232,985/1185	13672837	1,12761	2138	4243	6381	SO:0001583	missense	2199	0	0					g.chr3:13672837G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2953G>A	chr3.hg19:g.13672837G>A	ENSP00000295760:p.Glu985Lys	0					FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E1032K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K	p.E985K	NM_001998.2	NP_001989.2	1	2	3	1.998468	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)	15	3022	+			B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	0	1	hg19	c.2953G>A	CCDS46762.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333528	0.81801	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79	5.39	5.39	0.77823	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.96565	0.9418	10	0.87932	D	0	.	19.1574	0.93517	0.0:0.0:1.0:0.0	.	985;1032;1011	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	1011;1032;985;1032	ENSP00000445705:E1011K;ENSP00000384169:E1032K;ENSP00000295760:E985K;ENSP00000420042:E1032K	ENSP00000295760:E985K	E	+	1	0	0	FBLN2	13647838	13647838	1.000000	0.71417	0.990000	0.47175	0.103000	0.19146	9.782000	0.99034	2.525000	0.85131	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	0	0	0		2	2	6	0		0	0	9		9	9	1	2.060000	-8.530274	1	0.170000	NM_001004019			4	4		58	57	0		1	0	1	0	1	9	879		8.887677e-01	9.991354e-01	9.998697e-01	0	100	285	891	4	58
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C|IL20RB_ENST00000484501.1_Intron			P16333	NCK1_HUMAN	NCK adaptor protein 1	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348																																						ENST00000481752.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1030-1032)Cgt>Tgt		NCK adaptor protein 1							97.0	93.0	94.0					3																	136667191		2203	4300	6503	SO:0001583	missense	4690	0	0					g.chr3:136667191C>T	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.1030C>T	chr3.hg19:g.136667191C>T	ENSP00000417273:p.Arg344Cys	0					NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C	p.R344C			1	2	3	1.998468	P16333	NCK1_HUMAN		4	1194	+			B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	1	1	hg19	c.1030C>T	CCDS3092.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	0	NCK1	138149881	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_006153			58	58		265	257	1		1	1		0	0	71	0		1	1	0	42	0	172	0	58	265
DZIP1L	199221	broad.mit.edu	37	3	137783593	137783593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	673					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517																																						ENST00000327532.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2017-2019)tcG>tcA		DAZ interacting zinc finger protein 1-like							145.0	157.0	153.0					3																	137783593		2203	4300	6503	SO:0001819	synonymous_variant	199221	4	121392	41				g.chr3:137783593C>T	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.2019G>A	chr3.hg19:g.137783593C>T		0						p.S673S	NM_173543.2	NP_775814.2	1	2	3	1.998468	Q8IYY4	DZI1L_HUMAN		15	2381	-			C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	1	1	hg19	c.2019G>A	CCDS3096.1	1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281852	0.01398	.	.	ENSG00000158163	ENST00000486487	.	.	.	4.93	-9.57	0.00562	4.93	-9.57	0.00562	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.30303	N	0.789263	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	-4.4106	9.158	0.37005	0.0:0.1371:0.3222:0.5406	.	.	.	.	N	43	.	.	D	-	1	0	0	DZIP1L	139266283	139266283	0.002000	0.14202	0.059000	0.19551	0.067000	0.16453	-2.142000	0.01298	-1.733000	0.01357	-0.794000	0.03295	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1		2	2	2	0		0	0	251		251	249	1	2.060000	-20.000000	1	0.170000	NM_173543			227	222		1076	1050	1		1	0		0	0	251	0		1	7.636230e-01	0	0	0	15	0	227	1076
DZIP1L	199221	broad.mit.edu	37	3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	591					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697																																						ENST00000327532.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1771-1773)Gct>Act		DAZ interacting zinc finger protein 1-like							44.0	49.0	47.0					3																	137787054		2203	4299	6502	SO:0001583	missense	199221	2	121372	32				g.chr3:137787054C>T	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.1771G>A	chr3.hg19:g.137787054C>T	ENSP00000332148:p.Ala591Thr	0					DZIP1L_ENST00000488595.1_5'Flank	p.A591T	NM_173543.2	NP_775814.2	1	2	3	1.998468	Q8IYY4	DZI1L_HUMAN		13	2133	-			C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	1	1	hg19	c.1771G>A	CCDS3096.1	1	.	.	.	.	.	.	.	.	.	.	C	6.214	0.407542	0.11754	.	.	ENSG00000158163	ENST00000327532	T	0.38560	1.13	4.91	-0.64	0.11493	4.91	-0.64	0.11493	.	0.988360	0.08252	N	0.974395	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.24483	T	0.36	0.5692	7.6678	0.28441	0.0:0.3723:0.0:0.6277	.	591	Q8IYY4	DZI1L_HUMAN	T	591	ENSP00000332148:A591T	ENSP00000332148:A591T	A	-	1	0	0	DZIP1L	139269744	139269744	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.192000	0.03052	-0.198000	0.10333	-0.300000	0.09419	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.775232	1	0.170000	NM_173543			77	73		295	290	1		1	1		0	0	66	0		1	6.969266e-01	0	2	0	9	0	77	295
DZIP1L	199221	broad.mit.edu	37	3	137787193	137787193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	544					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327532.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1630-1632)agC>agT		DAZ interacting zinc finger protein 1-like							57.0	63.0	61.0					3																	137787193		2203	4300	6503	SO:0001819	synonymous_variant	199221	1	121312	38				g.chr3:137787193G>A	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.1632C>T	chr3.hg19:g.137787193G>A		0		OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1636	DZIP1L_ENST00000488595.1_5'UTR	p.S544S	NM_173543.2	NP_775814.2	1	2	3	1.998468	Q8IYY4	DZI1L_HUMAN		13	1994	-			C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	1	1	hg19	c.1632C>T	CCDS3096.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.451570	1	0.170000	NM_173543			62	60		273	267	1		1	0		0	0	61	0		1	7.613238e-01	0	0	0	14	0	62	273
DBR1	51163	broad.mit.edu	37	3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	58					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687																																						ENST00000260803.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				15						c.(172-174)tAt>tGt		debranching RNA lariats 1							29.0	25.0	27.0					3																	137893465		2202	4298	6500	SO:0001583	missense	51163	0	0					g.chr3:137893465T>C	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.173A>G	chr3.hg19:g.137893465T>C	ENSP00000260803:p.Tyr58Cys	0					DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	p.Y58C	NM_016216.3	NP_057300.2	1	2	3	1.998468	Q9UK59	DBR1_HUMAN		1	326	-			Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	1	1	hg19	c.173A>G	CCDS33863.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837797	0.91117	.	.	ENSG00000138231	ENST00000260803	T	0.34667	1.35	5.26	5.26	0.73747	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81529	-0.0891	10	0.87932	D	0	-14.0475	13.1814	0.59657	0.0:0.0:0.0:1.0	.	58	Q9UK59	DBR1_HUMAN	C	58	ENSP00000260803:Y58C	ENSP00000260803:Y58C	Y	-	2	0	0	DBR1	139376155	139376155	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.523000	0.81856	2.213000	0.71641	0.455000	0.32223	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				23	23		72	72	1		1	1		0	0	21	0		9.999998e-01	9.997546e-01	0	17	0	30	0	23	72
ARMC8	25852	broad.mit.edu	37	3	138007892	138007892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	ENST00000469044.1	+	20	2095	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G|ARMC8_ENST00000461822.1_Silent_p.G541G|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Silent_p.G577G|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000484930.1_Intron|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000481646.1_Silent_p.G594G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	608										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTAATAGGGCCATTCACATG	0.338																																						ENST00000469044.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000																										0				16						c.(1822-1824)ggC>ggT		armadillo repeat containing 8							65.0	59.0	61.0					3																	138007892		1817	4076	5893	SO:0001819	synonymous_variant	25852	0	0					g.chr3:138007892C>T		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.1824C>T	chr3.hg19:g.138007892C>T		0					NME9_ENST00000341790.5_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G|ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000536478.1_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|ARMC8_ENST00000461822.1_Silent_p.G541G|ARMC8_ENST00000481646.1_Silent_p.G594G|NME9_ENST00000317876.4_Intron	p.G608G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	1	2	3	1.998468	Q8IUR7	ARMC8_HUMAN		20	2095	+			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	1	1	hg19	c.1824C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	0	0	1		14	8	2	1		1	1	27		27	27	1	2.060000	-13.780250	1	0.170000	NM_015396			21	21		98	93	0		1	0		1	0	27	0		9.039764e-01	7.413940e-01	0	7	0	47	0	21	98
ESYT3	83850	broad.mit.edu	37	3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	rs147770352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	649					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557																																						ENST00000389567.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1945-1947)aGt>aAt		extended synaptotagmin-like protein 3							138.0	154.0	149.0					3																	138191410		2094	4221	6315	SO:0001583	missense	83850	0	0					g.chr3:138191410G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1946G>A	chr3.hg19:g.138191410G>A	ENSP00000374218:p.Ser649Asn	0						p.S649N	NM_031913.3	NP_114119.2	1	2	3	1.998468	A0FGR9	ESYT3_HUMAN		18	2132	+			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	1	1	hg19	c.1946G>A	CCDS3101.2	1	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381065	0.05000	.	.	ENSG00000158220	ENST00000389567	T	0.38887	1.11	3.35	2.35	0.29111	3.35	2.35	0.29111	.	2.072220	0.02129	N	0.056260	T	0.35278	0.0926	L	0.36672	1.1	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.18710	T	0.47	-0.1719	9.3357	0.38049	0.0:0.0:0.7719:0.2281	.	649	A0FGR9	ESYT3_HUMAN	N	649	ENSP00000374218:S649N	ENSP00000374218:S649N	S	+	2	0	0	ESYT3	139674100	139674100	0.143000	0.22626	0.094000	0.20943	0.717000	0.41224	0.770000	0.26618	1.713000	0.51359	0.462000	0.41574	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	1	0	1		2	2	2	0		0	0	175		175	175	1	2.060000	-3.469501	1	0.170000	NM_031913			138	134		599	585	1		1	1		0	0	175	0		1	2.388652e-01	0	2	0	3	0	138	599
ESYT3	83850	broad.mit.edu	37	3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T	rs200317671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	752					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557																																						ENST00000389567.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2254-2256)Cga>Tga		extended synaptotagmin-like protein 3							107.0	115.0	112.0					3																	138192394		2053	4188	6241	SO:0001587	stop_gained	83850	7	121004	40				g.chr3:138192394C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2254C>T	chr3.hg19:g.138192394C>T	ENSP00000374218:p.Arg752*	0					ESYT3_ENST00000460133.1_3'UTR	p.R752*	NM_031913.3	NP_114119.2	1	2	3	1.998468	A0FGR9	ESYT3_HUMAN		19	2440	+			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	ENST00000389567.4	0	1	hg19	c.2254C>T	CCDS3101.2	1	.	.	.	.	.	.	.	.	.	.	C	38	7.071072	0.98044	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.83	1.96	0.26148	4.83	1.96	0.26148	.	1.153470	0.06567	N	0.747700	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.8153	8.2911	0.31958	0.4533:0.3999:0.1468:0.0	.	.	.	.	X	752	.	ENSP00000374218:R752X	R	+	1	2	2	ESYT3	139675084	139675084	0.050000	0.20438	0.001000	0.08648	0.012000	0.07955	0.631000	0.24568	0.314000	0.23086	-0.127000	0.14921	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_031913			118	117		613	593	1		1	1		0	0	153	0		1	4.413705e-01	0	2	0	7	0	118	613
ESYT3	83850	broad.mit.edu	37	3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	830	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358																																						ENST00000389567.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2488-2490)aTg>aCg		extended synaptotagmin-like protein 3							104.0	99.0	101.0					3																	138195085		1828	4098	5926	SO:0001583	missense	83850	0	0					g.chr3:138195085T>C	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2489T>C	chr3.hg19:g.138195085T>C	ENSP00000374218:p.Met830Thr	0					ESYT3_ENST00000460133.1_3'UTR	p.M830T	NM_031913.3	NP_114119.2	1	2	3	1.998468	A0FGR9	ESYT3_HUMAN		21	2675	+			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	1	1	hg19	c.2489T>C	CCDS3101.2	1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191359	0.38707	.	.	ENSG00000158220	ENST00000389567	T	0.68479	-0.33	5.16	5.16	0.70880	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261920	0.24681	U	0.036474	T	0.50531	0.1621	L	0.28740	0.885	0.80722	D	1	B	0.23128	0.08	B	0.27262	0.078	T	0.42799	-0.9430	10	0.13108	T	0.6	-8.2165	8.355	0.32324	0.1749:0.0:0.0:0.8251	.	830	A0FGR9	ESYT3_HUMAN	T	830	ENSP00000374218:M830T	ENSP00000374218:M830T	M	+	2	0	0	ESYT3	139677775	139677775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.173000	0.68751	0.374000	0.22700	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_031913			66	64		275	269	1		1	0		0	0	91	0		1	1.003932e-01	0	0	0	3	0	66	275
FOXL2NB	401089	broad.mit.edu	37	3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682																																						ENST00000383165.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(298-300)cGc>cAc									12.0	17.0	15.0					3																	138669185		1664	3841	5505	SO:0001583	missense	0	0	0					g.chr3:138669185G>A																												ENST00000383165.3:c.299G>A	chr3.hg19:g.138669185G>A	ENSP00000372651:p.Arg100His	0						p.R100H	NM_001040061.2	NP_001035150.1	1	2	3	1.998468	Q6ZUU3	FOXNB_HUMAN		3	430	+			A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	1	1	hg19	c.299G>A	CCDS43155.1	1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397971	0.11696	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.79	-1.45	0.08828	1.79	-1.45	0.08828	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.16867	-1.0388	8	0.54805	T	0.06	.	4.1627	0.10291	0.1688:0.3982:0.433:0.0	.	100	Q6ZUU3	CC072_HUMAN	H	100	.	ENSP00000372651:R100H	R	+	2	0	0	C3orf72	140151875	140151875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.418000	0.07080	-0.475000	0.06852	0.555000	0.69702	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				51	50		191	188	0		1			0	0	24	0		1	0	0	0	0	0	0	51	191
FOXL2NB	401089	broad.mit.edu	37	3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612																																						ENST00000383165.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(496-498)gCt>gTt									83.0	94.0	90.0					3																	138669383		2030	4196	6226	SO:0001583	missense	0	0	0					g.chr3:138669383C>T																												ENST00000383165.3:c.497C>T	chr3.hg19:g.138669383C>T	ENSP00000372651:p.Ala166Val	0						p.A166V	NM_001040061.2	NP_001035150.1	1	2	3	1.998468	Q6ZUU3	FOXNB_HUMAN		3	628	+			A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	1	1	hg19	c.497C>T	CCDS43155.1	1	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505377	0.12822	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.79	-3.56	0.04626	3.79	-3.56	0.04626	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18713	-1.0328	8	0.87932	D	0	.	0.1327	0.00075	0.2483:0.2598:0.1865:0.3054	.	166	Q6ZUU3	CC072_HUMAN	V	166	.	ENSP00000372651:A166V	A	+	2	0	0	C3orf72	140152073	140152073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-1.077000	0.03121	-1.184000	0.01707	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000				103	101		395	390	1		1	0		0	0	85	0		1	0	0	0	0	1	0	103	395
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					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.R103C(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						GCAATACAGCGAATGTAGTCT	0.383																																						ENST00000333188.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R103C(1)	large_intestine(1)	24						c.(307-309)Cgc>Tgc		coatomer protein complex, subunit beta 2 (beta prime)							124.0	116.0	119.0					3																	139097937		2203	4300	6503	SO:0001583	missense	9276	0	0					g.chr3:139097937G>A	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.307C>T	chr3.hg19:g.139097937G>A	ENSP00000329419:p.Arg103Cys	0					COPB2_ENST00000510491.1_5'UTR|COPB2_ENST00000507777.1_Missense_Mutation_p.R74C	p.R103C	NM_004766.2	NP_004757.1	1	2	3	1.998468	P35606	COPB2_HUMAN		4	488	-			B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	1	1	hg19	c.307C>T	CCDS3108.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	5.64	5.64	0.86602	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	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	0	COPB2	140580627	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.999990	1	0.170000	NM_004766			48	45		242	239	1		1	1		0	0	58	0		1	1	0	95	0	284	0	48	242
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547																																						ENST00000232217.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A23S(1)	lung(1)	12						c.(67-69)Gcc>Acc		retinol binding protein 2, cellular	Vitamin A(DB00162)						230.0	186.0	201.0					3																	139195235		2203	4300	6503	SO:0001583	missense	5948	0	0					g.chr3:139195235C>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.67G>A	chr3.hg19:g.139195235C>T	ENSP00000232217:p.Ala23Thr	0					RP11-319G6.1_ENST00000515247.1_RNA	p.A23T	NM_004164.2	NP_004155.2	1	2	3	1.998468	P50120	RET2_HUMAN		1	123	-			A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	1	1	hg19	c.67G>A	CCDS3109.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212263	0.79240	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08984	3.03;3.03	5.34	5.34	0.76211	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.23249	0.0562	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.00121	-1.2029	10	0.72032	D	0.01	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	T	23	ENSP00000232217:A23T;ENSP00000424333:A23T	ENSP00000232217:A23T	A	-	1	0	0	RBP2	140677925	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.726807	1	0.170000	NM_004164			66	64		256	245	1		1			0	0	51	0		1	0	0	0	0	0	0	66	256
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				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)		TAGAATATTTCTCTTGGAGGA	0.323																																						ENST00000446702.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				90						c.(1372-1374)Ctc>Atc		contactin 6							55.0	56.0	56.0					3																	1394015		2203	4299	6502	SO:0001583	missense	27255	0	0					g.chr3:1394015C>A	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.1372C>A	chr3.hg19:g.1394015C>A	ENSP00000407822:p.Leu458Ile	0					CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I|CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I	p.L458I			1	2	3	1.998468	Q9UQ52	CNTN6_HUMAN		12	1999	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	1	1	hg19	c.1372C>A	CCDS2557.1	1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158095	0.01686	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.68	0.44	0.16572	5.68	0.44	0.16572	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322819	0.22167	N	0.063700	T	0.21590	0.0520	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22626	-1.0211	10	0.02654	T	1	.	0.6072	0.00755	0.4032:0.2267:0.1564:0.2138	.	458	Q9UQ52	CNTN6_HUMAN	I	458;386;458	ENSP00000407822:L458I;ENSP00000442791:L386I;ENSP00000341882:L458I	ENSP00000341882:L458I	L	+	1	0	0	CNTN6	1369015	1369015	0.012000	0.17670	0.005000	0.12908	0.785000	0.44390	0.046000	0.14035	0.385000	0.24970	0.585000	0.79938	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_014461			35	35		184	179	1		1			0	0	41	0		1	0	0	0	0	0	0	35	184
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000296202.7	-	4	615	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.I41I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000512391.1_Silent_p.I78I			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587																																						ENST00000296202.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I41I(1)	lung(1)	9						c.(232-234)atC>atT		nicotinamide nucleotide adenylyltransferase 3							119.0	99.0	106.0					3																	139297773		2203	4300	6503	SO:0001819	synonymous_variant	349565	0	0					g.chr3:139297773G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.234C>T	chr3.hg19:g.139297773G>A		0					NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Silent_p.I41I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000512391.1_Silent_p.I78I	p.I78I			1	2	3	1.998468	Q96T66	NMNA3_HUMAN		4	615	-			B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	1	1	hg19	c.234C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_178177			38	38		217	217	1		1	1		0	0	52	0		1	8.391128e-01	0	5	0	16	0	38	217
CLSTN2	64084	broad.mit.edu	37	3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	641					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)			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						CGGGGCACAGACCACTTCTGG	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(1921-1923)gAc>gCc		calsyntenin 2							71.0	70.0	70.0					3																	140277580		2203	4300	6503	SO:0001583	missense	64084	0	0					g.chr3:140277580A>C	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.1922A>C	chr3.hg19:g.140277580A>C	ENSP00000402460:p.Asp641Ala	0	HNSCC(16;0.037)					p.D641A	NM_022131.2	NP_071414.2	1	2	3	1.998468	Q9H4D0	CSTN2_HUMAN		12	2112	+			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	1	1	hg19	c.1922A>C	CCDS3112.1	1	.	.	.	.	.	.	.	.	.	.	A	8.256	0.810116	0.16537	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.374526	0.32301	N	0.006290	T	0.25568	0.0622	L	0.41710	1.295	0.35741	D	0.818657	P	0.49090	0.919	B	0.40256	0.324	T	0.32025	-0.9922	9	.	.	.	-22.7113	13.1571	0.59524	1.0:0.0:0.0:0.0	.	641	Q9H4D0	CSTN2_HUMAN	A	641	ENSP00000402460:D641A	.	D	+	2	0	0	CLSTN2	141760270	141760270	1.000000	0.71417	0.104000	0.21259	0.750000	0.42670	9.339000	0.96797	1.990000	0.58119	0.528000	0.53228	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_022131			60	60		305	303	1		1	0		0	0	78	0		1	5.115692e-01	0	0	0	9	0	60	305
SLC25A36	55186	broad.mit.edu	37	3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000324194.6	+	6	735	c.567G>T	c.(565-567)gaG>gaT	p.E189D	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E189D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	189					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353																																						ENST00000324194.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(565-567)gaG>gaT		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							67.0	68.0	68.0					3																	140692672		2203	4300	6503	SO:0001583	missense	55186	0	0					g.chr3:140692672G>T	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.567G>T	chr3.hg19:g.140692672G>T	ENSP00000320688:p.Glu189Asp	0					RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D	p.E189D			1	2	3	1.998468	Q96CQ1	S2536_HUMAN		6	735	+			A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	1	1	hg19	c.567G>T	CCDS46927.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335840	0.81801	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78246	-1.16;-1.16;-1.16	6.01	6.01	0.97437	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.996	D	0.92087	0.5677	10	0.54805	T	0.06	-7.1033	11.2987	0.49292	0.0818:0.0:0.9182:0.0	.	163;189;189	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	189;189;163	ENSP00000401938:E189D;ENSP00000320688:E189D;ENSP00000391521:E163D	ENSP00000320688:E189D	E	+	3	2	2	SLC25A36	142175362	142175362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.264000	0.58859	2.861000	0.98227	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_018155			48	47		228	226	1		1	1		0	0	35	0		1	9.996266e-01	0	6	0	53	0	48	228
SPSB4	92369	broad.mit.edu	37	3	140785480	140785480	+	Silent	SNP	C	C	T	rs557176968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	178	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.001					ENST00000310546.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				4						c.(532-534)ctC>ctT		splA/ryanodine receptor domain and SOCS box containing 4							37.0	34.0	35.0					3																	140785480		2203	4300	6503	SO:0001819	synonymous_variant	92369	15	121346	37				g.chr3:140785480C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.534C>T	chr3.hg19:g.140785480C>T		0						p.L178L	NM_080862.1	NP_543138.1	1	2	3	1.998468	Q96A44	SPSB4_HUMAN		2	1278	+				Silent	SNP	ENST00000310546.2	1	1	hg19	c.534C>T	CCDS3115.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	0		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_080862			22	22		98	97	1		1	0		0	0	23	0		9.999994e-01	3.678529e-02	0	0	0	2	0	22	98
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	198	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632																																						ENST00000310546.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999402	0.990000	1.000000																										0				4						c.(592-594)ggC>ggT		splA/ryanodine receptor domain and SOCS box containing 4							58.0	53.0	55.0					3																	140785540		2203	4300	6503	SO:0001819	synonymous_variant	92369	0	0					g.chr3:140785540C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.594C>T	chr3.hg19:g.140785540C>T		0						p.G198G	NM_080862.1	NP_543138.1	1	2	3	1.998468	Q96A44	SPSB4_HUMAN		2	1338	+				Silent	SNP	ENST00000310546.2	1	1	hg19	c.594C>T	CCDS3115.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_080862			28	28		183	180	1		1	0		0	0	47	0		1	1.908648e-02	0	0	0	2	0	28	183
SPSB4	92369	broad.mit.edu	37	3	140785571	140785571	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGGCAAGAAGCTGTACCCGGT	0.617																																						ENST00000310546.2	1.000000	0.340000	8.200000e-01	4.600000e-01	0.610000	0.640708	0.610000	0.590000																										0				4						c.(625-627)Ctg>Ttg		splA/ryanodine receptor domain and SOCS box containing 4							70.0	66.0	67.0					3																	140785571		2203	4300	6503	SO:0001819	synonymous_variant	92369	1	121402	28				g.chr3:140785571C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.625C>T	chr3.hg19:g.140785571C>T		0						p.L209L	NM_080862.1	NP_543138.1	1	2	3	1.998468	Q96A44	SPSB4_HUMAN		2	1369	+				Silent	SNP	ENST00000310546.2	1	1	hg19	c.625C>T	CCDS3115.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-15.200930	1	0.170000	NM_080862			13	12		247	242	0		1	0		0	0	57	0		9.994996e-01	3.047630e-03	0	0	0	2	0	13	247
ZBTB38	253461	broad.mit.edu	37	3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443																																						ENST00000514251.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1858-1860)Gat>Tat		zinc finger and BTB domain containing 38							86.0	84.0	84.0					3																	141163088		1986	4179	6165	SO:0001583	missense	253461	0	0					g.chr3:141163088G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1858G>T	chr3.hg19:g.141163088G>T	ENSP00000426387:p.Asp620Tyr	0					ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y	p.D620Y			1	2	3	1.998468				4	2137	+				Missense_Mutation	SNP	ENST00000514251.1	1	1	hg19	c.1858G>T	CCDS43157.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146053	0.37923	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09163	3.47;3.01;3.01;3.01	5.55	2.76	0.32466	5.55	2.76	0.32466	.	0.461992	0.22355	N	0.061147	T	0.08044	0.0201	L	0.44542	1.39	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.23419	0.046;0.046	T	0.32161	-0.9917	9	.	.	.	-4.1212	6.2002	0.20571	0.2194:0.3343:0.4463:0.0	.	621;620	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	620;620;620;621	ENSP00000424254:D620Y;ENSP00000426387:D620Y;ENSP00000406955:D620Y;ENSP00000372635:D621Y	.	D	+	1	0	0	ZBTB38	142645778	142645778	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.371000	0.34250	0.292000	0.22492	-0.898000	0.02899	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				73	73		390	387	1		1	1		0	0	103	0		1	1	0	37	0	137	0	73	390
ZBTB38	253461	broad.mit.edu	37	3	141163405	141163405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502																																						ENST00000514251.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2173-2175)tcG>tcA		zinc finger and BTB domain containing 38							73.0	75.0	74.0					3																	141163405		2063	4206	6269	SO:0001819	synonymous_variant	253461	2	121002	36				g.chr3:141163405G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2175G>A	chr3.hg19:g.141163405G>A		0					ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S	p.S725S			1	2	3	1.998468				4	2454	+				Silent	SNP	ENST00000514251.1	1	1	hg19	c.2175G>A	CCDS43157.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-2.981122	1	0.170000				88	85		328	323	1		1	1		0	0	82	0		1	1	0	32	0	131	0	88	328
ZBTB38	253461	broad.mit.edu	37	3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428																																						ENST00000514251.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999837	0.990000	1.000000																										0				41						c.(2359-2361)Gaa>Aaa		zinc finger and BTB domain containing 38							55.0	53.0	53.0					3																	141163589		1858	4100	5958	SO:0001583	missense	253461	0	0					g.chr3:141163589G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2359G>A	chr3.hg19:g.141163589G>A	ENSP00000426387:p.Glu787Lys	0					ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K	p.E787K			1	2	3	1.998468				4	2638	+				Missense_Mutation	SNP	ENST00000514251.1	1	1	hg19	c.2359G>A	CCDS43157.1	1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241111	0.39598	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.507348	0.19173	N	0.120890	T	0.12987	0.0315	L	0.57536	1.79	0.49389	D	0.99978	P;P	0.43094	0.799;0.799	B;B	0.32980	0.156;0.156	T	0.10109	-1.0644	9	.	.	.	-11.7549	19.0314	0.92959	0.0:0.0:1.0:0.0	.	788;787	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	787;787;788	ENSP00000426387:E787K;ENSP00000406955:E787K;ENSP00000372635:E788K	.	E	+	1	0	0	ZBTB38	142646279	142646279	1.000000	0.71417	0.555000	0.28281	0.428000	0.31595	6.996000	0.76263	2.497000	0.84241	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				30	29		181	174	1		1	1		0	0	49	0		1	1	0	42	0	144	0	30	181
ZBTB38	253461	broad.mit.edu	37	3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428																																						ENST00000514251.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2365-2367)cCg>cTg		zinc finger and BTB domain containing 38							55.0	53.0	54.0					3																	141163596		1861	4103	5964	SO:0001583	missense	253461	1	120804	31				g.chr3:141163596C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2366C>T	chr3.hg19:g.141163596C>T	ENSP00000426387:p.Pro789Leu	0					ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L	p.P789L			1	2	3	1.998468				4	2645	+				Missense_Mutation	SNP	ENST00000514251.1	1	1	hg19	c.2366C>T	CCDS43157.1	1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027271	0.02045	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08370	3.1;3.1;3.1	5.33	3.29	0.37713	5.33	3.29	0.37713	.	1.066810	0.07311	N	0.875850	T	0.04907	0.0132	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	0.40040	-0.9584	9	.	.	.	-0.1081	8.7571	0.34652	0.0:0.7163:0.0:0.2837	.	790;789	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	789;789;790	ENSP00000426387:P789L;ENSP00000406955:P789L;ENSP00000372635:P790L	.	P	+	2	0	0	ZBTB38	142646286	142646286	0.006000	0.16342	0.265000	0.24526	0.304000	0.27724	1.585000	0.36600	1.255000	0.44051	-0.143000	0.13931	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-3.171253	1	0.170000				43	40		169	163	1		1	1		0	0	53	0		1	1	0	25	0	150	0	43	169
CNTN6	27255	broad.mit.edu	37	3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*			Q9UQ52	CNTN6_HUMAN	contactin 6	556	Ig-like C2-type 6.				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)				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)		AAGGATTGGAGGAGTAAGTTA	0.348																																						ENST00000446702.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(1666-1668)Gga>Tga		contactin 6							83.0	86.0	85.0					3																	1414156		2203	4300	6503	SO:0001587	stop_gained	27255	0	0					g.chr3:1414156G>T	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.1666G>T	chr3.hg19:g.1414156G>T	ENSP00000407822:p.Gly556*	0					CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*	p.G556*			1	2	3	1.998468	Q9UQ52	CNTN6_HUMAN		13	2293	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	0	1	hg19	c.1666G>T	CCDS2557.1	1	.	.	.	.	.	.	.	.	.	.	G	44	11.096650	0.99515	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.9318	0.70919	0.0706:0.0:0.9294:0.0	.	.	.	.	X	556;484;556	.	ENSP00000341882:G556X	G	+	1	0	0	CNTN6	1389156	1389156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.376000	0.79658	2.732000	0.93576	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.285716	1	0.170000	NM_014461			50	49		221	217	1		1			0	0	47	0		1	0	0	0	0	0	0	50	221
RASA2	5922	broad.mit.edu	37	3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000452898.1	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000286364.3_Missense_Mutation_p.K423T	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	423	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)			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						GTAACATTAAAACCTATTCTT	0.373																																						ENST00000452898.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1267-1269)aAa>aCa		RAS p21 protein activator 2							97.0	95.0	96.0					3																	141291549		2203	4300	6503	SO:0001583	missense	5922	0	0					g.chr3:141291549A>C	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.1268A>C	chr3.hg19:g.141291549A>C	ENSP00000391677:p.Lys423Thr	0					RASA2_ENST00000286364.3_Missense_Mutation_p.K423T	p.K423T	NM_006506.2	NP_006497.2	1	2	3	1.998468	Q15283	RASA2_HUMAN		12	1303	+			A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	1	1	hg19	c.1268A>C		1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583093	0.86748	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.56746	0.867;0.977;0.972;0.977	P;D;D;D	0.69824	0.836;0.966;0.943;0.966	T	0.25363	-1.0134	10	0.56958	D	0.05	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	15;423;423;423	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	T	423;423;15	ENSP00000286364:K423T;ENSP00000391677:K423T	ENSP00000286364:K423T	K	+	2	0	0	RASA2	142774239	142774239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RASA2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_006506			55	54		244	240	1		1	1		0	0	63	0		1	9.970627e-01	0	5	0	37	0	55	244
GRK7	131890	broad.mit.edu	37	3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	105	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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAGACAGCGCGCTGCAGGGG	0.672																																						ENST00000264952.2	1.000000	0.280000	7.100000e-01	3.800000e-01	0.520000	0.553408	0.520000	0.500000																										0				26						c.(313-315)gCg>gTg		G protein-coupled receptor kinase 7							23.0	25.0	24.0					3																	141497440		2199	4291	6490	SO:0001583	missense	131890	0	0					g.chr3:141497440C>T		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.314C>T	chr3.hg19:g.141497440C>T	ENSP00000264952:p.Ala105Val	0						p.A105V	NM_139209.2	NP_631948.1	1	2	3	1.998468	Q8WTQ7	GRK7_HUMAN		1	451	+				Missense_Mutation	SNP	ENST00000264952.2	1	1	hg19	c.314C>T	CCDS3120.1	0	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717074	0.15372	.	.	ENSG00000114124	ENST00000264952	T	0.02015	4.5	4.37	-3.86	0.04230	4.37	-3.86	0.04230	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	2.007550	0.02149	N	0.057872	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	T	0.44711	-0.9310	10	0.52906	T	0.07	2.9895	5.7512	0.18148	0.0:0.3545:0.2322:0.4132	.	105	Q8WTQ7	GRK7_HUMAN	V	105	ENSP00000264952:A105V	ENSP00000264952:A105V	A	+	2	0	0	GRK7	142980130	142980130	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.252000	0.08806	-0.921000	0.03794	-0.471000	0.05019	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-13.567680	1	0.170000	NM_139209			12	12		273	267	0		1			0	0	61	0		9.990549e-01	0	0	0	0	0	0	12	273
GRK7	131890	broad.mit.edu	37	3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547																																						ENST00000264952.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(895-897)caG>caT		G protein-coupled receptor kinase 7							96.0	86.0	90.0					3																	141499500		2203	4300	6503	SO:0001583	missense	131890	0	0					g.chr3:141499500G>T		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.897G>T	chr3.hg19:g.141499500G>T	ENSP00000264952:p.Gln299His	0						p.Q299H	NM_139209.2	NP_631948.1	1	2	3	1.998468	Q8WTQ7	GRK7_HUMAN		2	1034	+				Missense_Mutation	SNP	ENST00000264952.2	1	1	hg19	c.897G>T	CCDS3120.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196994	0.79015	.	.	ENSG00000114124	ENST00000264952	T	0.34667	1.35	5.1	5.1	0.69264	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63462	-0.6632	10	0.87932	D	0	-21.6541	18.5075	0.90902	0.0:0.0:1.0:0.0	.	299	Q8WTQ7	GRK7_HUMAN	H	299	ENSP00000264952:Q299H	ENSP00000264952:Q299H	Q	+	3	2	2	GRK7	142982190	142982190	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.304000	0.65744	2.357000	0.79964	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_139209			50	47		218	214	1		1			0	0	41	0		1	0	0	0	0	0	0	50	218
CHCHD4	131474	broad.mit.edu	37	3	14154654	14154654	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000396914.3	-	3	343	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CHCHD4_ENST00000295767.5_Silent_p.P67P	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	54					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463																																						ENST00000396914.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(160-162)ccA>ccG		coiled-coil-helix-coiled-coil-helix domain containing 4							74.0	75.0	75.0					3																	14154654		2203	4300	6503	SO:0001819	synonymous_variant	131474	0	0					g.chr3:14154654T>C	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.162A>G	chr3.hg19:g.14154654T>C		0					CHCHD4_ENST00000295767.5_Silent_p.P67P	p.P54P	NM_001098502.1	NP_001091972.1	1	2	3	1.998468	Q8N4Q1	MIA40_HUMAN		3	343	-			A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	ENST00000396914.3	1	1	hg19	c.162A>G	CCDS43054.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_144636			64	62		295	288	1		1	1		0	0	88	0		1	9.999988e-01	0	41	0	53	0	64	295
GRK7	131890	broad.mit.edu	37	3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418																																						ENST00000264952.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1120-1122)Tgg>Cgg		G protein-coupled receptor kinase 7							116.0	115.0	115.0					3																	141526556		2203	4300	6503	SO:0001583	missense	131890	0	0					g.chr3:141526556T>C		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.1120T>C	chr3.hg19:g.141526556T>C	ENSP00000264952:p.Trp374Arg	0						p.W374R	NM_139209.2	NP_631948.1	1	2	3	1.998468	Q8WTQ7	GRK7_HUMAN		3	1257	+				Missense_Mutation	SNP	ENST00000264952.2	1	1	hg19	c.1120T>C	CCDS3120.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246655	0.80024	.	.	ENSG00000114124	ENST00000264952	T	0.24723	1.84	4.93	4.93	0.64822	4.93	4.93	0.64822	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	0.62319	0.2418	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74731	-0.3566	10	0.87932	D	0	-9.2897	14.5933	0.68386	0.0:0.0:0.0:1.0	.	374	Q8WTQ7	GRK7_HUMAN	R	374	ENSP00000264952:W374R	ENSP00000264952:W374R	W	+	1	0	0	GRK7	143009246	143009246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	1.847000	0.53656	0.528000	0.53228	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_139209			93	92		444	440	1		1			0	0	88	0		1	0	0	0	0	0	0	93	444
XPC	7508	broad.mit.edu	37	3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.P731H|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	768	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				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)			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						ACAGCCAATAGGCATCATGCT	0.582			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7	1.000000	0.630000	1	8.100000e-01	0.990000	0.932458	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (C)	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	3p25	7508	Mis, N, F, S	"""xeroderma pigmentosum, complementation group C"""				E	E		skin basal cell, skin squamous cell, melanoma			0				22						c.(2302-2304)cCt>cAt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							79.0	84.0	82.0					3																	14190179		2112	4222	6334	SO:0001583	missense	7508	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr3:14190179G>T		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.2303C>A	chr3.hg19:g.14190179G>T	ENSP00000285021:p.Pro768His	0					AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.P731H|AC093495.4_ENST00000428681.3_RNA	p.P768H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	1	2	3	1.998468	Q01831	XPC_HUMAN		13	2517	-			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	0	1	hg19	c.2303C>A	CCDS46763.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.056570	0.93793	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	D;D	0.91577	-2.87;-2.61	5.79	5.79	0.91817	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97465	1.0037	10	0.87932	D	0	-19.3044	20.0207	0.97499	0.0:0.0:1.0:0.0	.	731;768	E9PH69;Q01831	.;XPC_HUMAN	H	768;731	ENSP00000285021:P768H;ENSP00000404002:P731H	ENSP00000285021:P768H	P	-	2	0	0	XPC	14165180	14165180	1.000000	0.71417	0.965000	0.40720	0.915000	0.54546	9.607000	0.98328	2.739000	0.93911	0.563000	0.77884	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	0	0	0		15	12	2	1		1	1	49		49	48	1	2.060000	-19.999940	1	0.170000	NM_004628			18	17		192	190	1		1	1		1	0	49	0		7.476617e-01	6.953965e-01	0	21	0	137	0	18	192
XPC	7508	broad.mit.edu	37	3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A	rs377360172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.R716L|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	753	Minimal sensor domain involved in damage recognition.				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)			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						AAACTCGTTCCGGGGCACCTG	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (C)	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	3p25	7508	Mis, N, F, S	"""xeroderma pigmentosum, complementation group C"""				E	E		skin basal cell, skin squamous cell, melanoma			0				22						c.(2257-2259)cGg>cTg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							64.0	73.0	70.0					3																	14190224		2111	4218	6329	SO:0001583	missense	7508	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr3:14190224C>A		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.2258G>T	chr3.hg19:g.14190224C>A	ENSP00000285021:p.Arg753Leu	0					AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.R716L|AC093495.4_ENST00000428681.3_RNA	p.R753L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	1	2	3	1.998468	Q01831	XPC_HUMAN		13	2472	-			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	1	1	hg19	c.2258G>T	CCDS46763.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904535	0.92035	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.41400	1.0;1.04	5.65	5.65	0.86999	5.65	5.65	0.86999	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-25.7765	19.7205	0.96142	0.0:1.0:0.0:0.0	.	716;753	E9PH69;Q01831	.;XPC_HUMAN	L	753;716	ENSP00000285021:R753L;ENSP00000404002:R716L	ENSP00000285021:R753L	R	-	2	0	0	XPC	14165225	14165225	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	7.617000	0.83032	2.671000	0.90904	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	1	0	0		17	2	2	0		0	1	39		39	36	1	2.060000	-3.389322	1	0.170000	NM_004628			39	36		157	156	1		1	1		0	0	39	0		9.994385e-01	1	0	27	0	114	0	39	157
XPC	7508	broad.mit.edu	37	3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	215					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)			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						AAGCCATTTGCTAGCAGGCAG	0.527			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (C)	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	3p25	7508	Mis, N, F, S	"""xeroderma pigmentosum, complementation group C"""				E	E		skin basal cell, skin squamous cell, melanoma			0				22						c.(643-645)Gca>Tca	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55.0	54.0	54.0					3																	14207064		1991	4176	6167	SO:0001583	missense	7508	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr3:14207064C>A		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.643G>T	chr3.hg19:g.14207064C>A	ENSP00000285021:p.Ala215Ser	0					XPC_ENST00000449060.2_Missense_Mutation_p.A178S	p.A215S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	1	2	3	1.998468	Q01831	XPC_HUMAN		6	857	-			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	1	1	hg19	c.643G>T	CCDS46763.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164672	0.78339	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65178	-0.14;-0.14	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.73598	2.24	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56042	0.73;0.79	T	0.76130	-0.3072	10	0.45353	T	0.12	-17.5158	19.5002	0.95091	0.0:1.0:0.0:0.0	.	178;215	E9PH69;Q01831	.;XPC_HUMAN	S	215;178	ENSP00000285021:A215S;ENSP00000404002:A178S	ENSP00000285021:A215S	A	-	1	0	0	XPC	14182068	14182068	1.000000	0.71417	0.895000	0.35142	0.123000	0.20343	6.688000	0.74557	2.604000	0.88044	0.563000	0.77884	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_004628			21	20		76	76	1		1	1		0	0	15	0		9.999989e-01	9.999987e-01	0	20	0	74	0	21	76
ATP1B3	483	broad.mit.edu	37	3	141644374	141644374	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	224	immunoglobulin-like. {ECO:0000250}.				blood coagulation (GO:0007596)|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 localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|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)			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378																																						ENST00000286371.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(670-672)gTt>gCt		ATPase, Na+/K+ transporting, beta 3 polypeptide							119.0	115.0	117.0					3																	141644374		2203	4300	6503	SO:0001630	splice_region_variant	483	0	0					g.chr3:141644374T>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.670-1T>C	chr3.hg19:g.141644374T>C		0					ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A|ATP1B3_ENST00000539728.1_3'UTR	p.V224A	NM_001679.2	NP_001670.1	1	2	3	1.998468	P54709	AT1B3_HUMAN		7	859	+			B7Z1N7	Splice_Site	SNP	ENST00000286371.3	1	0	hg19	c.671T>C	CCDS3121.1	1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608812	0.14066	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.29142	1.58;1.58	5.58	0.0747	0.14396	5.58	0.0747	0.14396	.	0.662303	0.16266	N	0.222039	T	0.21590	0.0520	M	0.65975	2.015	0.40735	D	0.982782	B;B	0.19200	0.034;0.034	B;B	0.22152	0.022;0.038	T	0.14699	-1.0463	10	0.07482	T	0.82	-6.4638	1.5542	0.02581	0.1219:0.1728:0.2729:0.4324	.	210;224	D3DNF9;P54709	.;AT1B3_HUMAN	A	224;34	ENSP00000286371:V224A;ENSP00000418353:V34A	ENSP00000286371:V224A	V	+	2	0	0	ATP1B3	143127064	143127064	0.957000	0.32711	0.226000	0.23910	0.093000	0.18481	0.330000	0.19715	0.064000	0.16427	0.533000	0.62120	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_001679	Missense_Mutation		131	129		560	554	1		1	1		0	0	101	0		1	1	0	127	0	478	0	131	560
XPC	7508	broad.mit.edu	37	3	14209881	14209881	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	ENST00000285021.7	-	4	627		c.e4-1		XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						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)			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						TCACTAAGTTCTATCAACAAG	0.423			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7	1.000000	0.220000	7.000000e-01	3.300000e-01	0.480000	0.525648	0.480000	0.440000			yes	Rec		Xeroderma pigmentosum (C)	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	3p25	7508	Mis, N, F, S	"""xeroderma pigmentosum, complementation group C"""				E	E		skin basal cell, skin squamous cell, melanoma			0				22						c.e4-1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55.0	54.0	55.0					3																	14209881		1888	4129	6017	SO:0001630	splice_region_variant	7508	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr3:14209881C>T		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.413-1G>A	chr3.hg19:g.14209881C>T		0					XPC_ENST00000449060.2_Intron		NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	1	2	3	1.998468	Q01831	XPC_HUMAN		4	627	-			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	SNP	ENST00000285021.7	0	1	hg19		CCDS46763.1	0	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536607	0.27475	.	.	ENSG00000154767	ENST00000285021;ENST00000511155	.	.	.	5.46	4.59	0.56863	5.46	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0672	0.64837	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	.	XPC	14184885	14184885	1.000000	0.71417	0.938000	0.37757	0.167000	0.22549	5.845000	0.69437	1.304000	0.44892	0.591000	0.81541	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.402605	1	0.170000	NM_004628	Intron		8	8		199	197	0		1	0		0	0	58	0		9.893700e-01	2.050581e-03	0	0	0	2	0	8	199
XRN1	54464	broad.mit.edu	37	3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308																																						ENST00000264951.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2824-2826)Agg>Ggg		5'-3' exoribonuclease 1							31.0	33.0	32.0					3																	142095328		2198	4297	6495	SO:0001583	missense	54464	0	0					g.chr3:142095328T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2824A>G	chr3.hg19:g.142095328T>C	ENSP00000264951:p.Arg942Gly	0					XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	p.R942G	NM_019001.3	NP_061874.3	1	2	3	1.998468	Q8IZH2	XRN1_HUMAN		24	2941	-			Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	1	1	hg19	c.2824A>G	CCDS3123.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971976	0.74246	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.054497	0.85682	D	0.000000	T	0.31702	0.0805	L	0.56280	1.765	0.80722	D	1	B;B;B	0.18166	0.026;0.016;0.002	B;B;B	0.15484	0.008;0.013;0.002	T	0.04664	-1.0935	10	0.34782	T	0.22	-14.6321	15.6489	0.77076	0.0:0.0:0.0:1.0	.	803;942;942	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	G	942	ENSP00000264951:R942G;ENSP00000376707:R942G	ENSP00000264951:R942G	R	-	1	2	2	XRN1	143578018	143578018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.112000	0.64535	0.482000	0.46254	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.999990	1	0.170000	NM_019001			38	36		142	140	0		1	1		0	0	27	0		1	9.995580e-01	0	17	0	31	0	38	142
ATR	545	broad.mit.edu	37	3	142168272	142168272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000392981.2_5'Flank|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000463916.1_5'Flank|ATR_ENST00000383101.3_Silent_p.*2581*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	0					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)			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						AATTTCATTTCACATATATGG	0.313								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(7933-7935)tGa>tAa	Other conserved DNA damage response genes	ATR serine/threonine kinase							75.0	79.0	78.0					3																	142168272		2203	4300	6503	SO:0001819	synonymous_variant	545	0	0					g.chr3:142168272C>T	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.7934G>A	chr3.hg19:g.142168272C>T		0					XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000392981.2_5'Flank|ATR_ENST00000383101.3_Silent_p.*2581*|XRN1_ENST00000465074.1_5'Flank	p.*2645*	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		47	8055	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	0	1	hg19	c.7934G>A	CCDS3124.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001184			61	61		264	260	1		1	1		0	0	44	0		1	9.751220e-01	0	7	0	21	0	61	264
ATR	545	broad.mit.edu	37	3	142186836	142186836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.E2145E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2209					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)			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						CAACAAACTTCTCTAAGGATT	0.353								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.580000	1	7.100000e-01	0.860000	0.854130	0.860000	1.000000																										0				122						c.(6625-6627)gaG>gaA	Other conserved DNA damage response genes	ATR serine/threonine kinase							121.0	128.0	126.0					3																	142186836		2202	4298	6500	SO:0001819	synonymous_variant	545	0	0					g.chr3:142186836C>T	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.6627G>A	chr3.hg19:g.142186836C>T		0					RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.E2145E	p.E2209E	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		39	6748	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	1	1	hg19	c.6627G>A	CCDS3124.1	1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817999	0.16607	.	.	ENSG00000175054	ENST00000513291	T	0.13538	2.58	5.84	1.08	0.20341	5.84	1.08	0.20341	.	0.150804	0.64402	D	0.000014	T	0.08133	0.0203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18935	-1.0321	7	0.07030	T	0.85	-23.6448	9.963	0.41708	0.0:0.3146:0.0:0.6854	.	.	.	.	K	56	ENSP00000424355:E56K	ENSP00000424355:E56K	E	-	1	0	0	ATR	143669526	143669526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.663000	0.25053	0.491000	0.27793	-0.229000	0.12294	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-7.822428	1	0.170000	NM_001184			29	29		376	374	0		1	1		0	0	84	0		1	8.765277e-01	0	6	0	44	0	29	376
ATR	545	broad.mit.edu	37	3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2011	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)			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						GCTGTTTCTTCCATAAATCGG	0.353								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(6031-6033)Gaa>Aaa	Other conserved DNA damage response genes	ATR serine/threonine kinase							98.0	97.0	98.0					3																	142212021		2203	4300	6503	SO:0001583	missense	545	0	0					g.chr3:142212021C>T	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.6031G>A	chr3.hg19:g.142212021C>T	ENSP00000343741:p.Glu2011Lys	0					ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	p.E2011K	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		35	6152	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	1	1	hg19	c.6031G>A	CCDS3124.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.767804	0.96914	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.71	5.71	0.89125	5.71	5.71	0.89125	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78976	-0.1991	10	0.29301	T	0.29	-7.6986	19.8635	0.96793	0.0:1.0:0.0:0.0	.	2011	Q13535	ATR_HUMAN	K	2011;1947	ENSP00000343741:E2011K;ENSP00000372581:E1947K	ENSP00000343741:E2011K	E	-	1	0	0	ATR	143694711	143694711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.700000	0.92200	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.402940	1	0.170000	NM_001184			51	49		210	205	1		1	1		0	0	61	0		1	9.852667e-01	0	4	0	26	0	51	210
ATR	545	broad.mit.edu	37	3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1530					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)			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						CAGAATATGTGGAAGAAGATA	0.358								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(4588-4590)cCa>cAa	Other conserved DNA damage response genes	ATR serine/threonine kinase							134.0	122.0	126.0					3																	142232395		2203	4300	6503	SO:0001583	missense	545	0	0					g.chr3:142232395G>T	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.4589C>A	chr3.hg19:g.142232395G>T	ENSP00000343741:p.Pro1530Gln	0					ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	p.P1530Q	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		26	4710	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	1	1	hg19	c.4589C>A	CCDS3124.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669772	0.88348	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.39056	1.1;1.1	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74842	-0.3527	10	0.87932	D	0	-13.4082	18.397	0.90502	0.0:0.0:1.0:0.0	.	1530	Q13535	ATR_HUMAN	Q	1530;1466	ENSP00000343741:P1530Q;ENSP00000372581:P1466Q	ENSP00000343741:P1530Q	P	-	2	0	0	ATR	143715085	143715085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.415000	0.81967	0.491000	0.48974	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-2.701243	1	0.170000	NM_001184			57	56		281	276	1		1	1		0	0	91	0		1	9.523281e-01	0	3	0	24	0	57	281
ATR	545	broad.mit.edu	37	3	142241618	142241618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1406					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)			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						TATCAGCATACGCAAGGTAAG	0.363								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.730000	1	8.600000e-01	0.990000	0.947878	0.990000	1.000000																										0				122						c.(4216-4218)gcG>gcA	Other conserved DNA damage response genes	ATR serine/threonine kinase							130.0	134.0	132.0					3																	142241618		2203	4300	6503	SO:0001819	synonymous_variant	545	3	121412	38				g.chr3:142241618C>T	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.4218G>A	chr3.hg19:g.142241618C>T		0					ATR_ENST00000383101.3_Silent_p.A1342A	p.A1406A	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		23	4339	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	1	1	hg19	c.4218G>A	CCDS3124.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	0		2	2	2	0		0	0	98		98	97	1	2.060000	-11.731710	1	0.170000	NM_001184			44	43		480	468	1		1	1		0	0	98	0		1	7.763303e-01	0	7	0	26	0	44	480
ATR	545	broad.mit.edu	37	3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1375					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)			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						TCCTTGAGTTTCAGTTGTTGA	0.393								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.220000	4.900000e-01	2.900000e-01	0.370000	0.416382	0.370000	0.370000																										0				122						c.(4123-4125)gAa>gGa	Other conserved DNA damage response genes	ATR serine/threonine kinase							116.0	111.0	113.0					3																	142242863		2203	4300	6503	SO:0001583	missense	545	0	0					g.chr3:142242863T>C	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.4124A>G	chr3.hg19:g.142242863T>C	ENSP00000343741:p.Glu1375Gly	0					ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	p.E1375G	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		22	4245	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	1	1	hg19	c.4124A>G	CCDS3124.1	0	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027794	0.54790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05925	3.37;3.85	5.39	5.39	0.77823	5.39	5.39	0.77823	Armadillo-like helical (1);	0.285567	0.39475	N	0.001353	T	0.05823	0.0152	N	0.24115	0.695	0.49051	D	0.999744	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.23891	T	0.37	-9.1976	15.69	0.77442	0.0:0.0:0.0:1.0	.	1375	Q13535	ATR_HUMAN	G	1375;1311	ENSP00000343741:E1375G;ENSP00000372581:E1311G	ENSP00000343741:E1375G	E	-	2	0	0	ATR	143725553	143725553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.812000	0.69194	2.150000	0.67090	0.533000	0.62120	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	1		2	2	2	0		0	0	134		134	131	1	2.060000	-3.724358	1	0.170000	NM_001184			17	17		534	528	0		1	0		0	0	134	0		9.999619e-01	2.899755e-01	0	0	0	33	0	17	534
ATR	545	broad.mit.edu	37	3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	968					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)			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						AGCCATTTCTCTCTGGTGAGC	0.403								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(2902-2904)aGa>aTa	Other conserved DNA damage response genes	ATR serine/threonine kinase							151.0	139.0	143.0					3																	142269047		2203	4300	6503	SO:0001583	missense	545	0	0					g.chr3:142269047C>A	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.2903G>T	chr3.hg19:g.142269047C>A	ENSP00000343741:p.Arg968Ile	0					ATR_ENST00000383101.3_Missense_Mutation_p.R904I	p.R968I	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		14	3024	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	1	1	hg19	c.2903G>T	CCDS3124.1	1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571103	0.65765	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.70282	-0.47;-0.47	5.47	4.41	0.53225	5.47	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.052909	0.85682	D	0.000000	T	0.53302	0.1788	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.53027	-0.8496	10	0.17832	T	0.49	-18.6483	15.1389	0.72595	0.0:0.9203:0.0:0.0797	.	968	Q13535	ATR_HUMAN	I	968;904	ENSP00000343741:R968I;ENSP00000372581:R904I	ENSP00000343741:R968I	R	-	2	0	0	ATR	143751737	143751737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.959000	0.70339	2.561000	0.86390	0.591000	0.81541	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.855637	1	0.170000	NM_001184			74	69		375	368	1		1	1		0	0	82	0		1	9.483823e-01	0	5	0	22	0	74	375
ATR	545	broad.mit.edu	37	3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	155					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)			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						GGTAAACCAAGTCTTCAAAAA	0.353								Other conserved DNA damage response genes																														ENST00000350721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(463-465)gaC>gaA	Other conserved DNA damage response genes	ATR serine/threonine kinase							73.0	81.0	78.0					3																	142281779		2203	4299	6502	SO:0001583	missense	545	0	0					g.chr3:142281779G>T	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.465C>A	chr3.hg19:g.142281779G>T	ENSP00000343741:p.Asp155Glu	0					ATR_ENST00000383101.3_Missense_Mutation_p.D155E	p.D155E	NM_001184.3	NP_001175.2	1	2	3	1.998468	Q13535	ATR_HUMAN		4	586	-			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	1	1	hg19	c.465C>A	CCDS3124.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546167	0.45383	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.78	-2.14	0.07123	5.78	-2.14	0.07123	Armadillo-type fold (1);	0.051870	0.64402	D	0.000001	T	0.50616	0.1626	M	0.63428	1.95	0.26028	N	0.981785	B	0.33857	0.429	B	0.27608	0.081	T	0.46317	-0.9200	10	0.23891	T	0.37	-14.3611	13.4513	0.61172	0.6071:0.0:0.3929:0.0	.	155	Q13535	ATR_HUMAN	E	155	ENSP00000343741:D155E;ENSP00000372581:D155E	ENSP00000343741:D155E	D	-	3	2	2	ATR	143764469	143764469	0.998000	0.40836	0.990000	0.47175	0.974000	0.67602	0.455000	0.21843	-0.237000	0.09739	0.591000	0.81541	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_001184			85	85		468	465	1		1	0		0	0	122	0		1	6.578065e-01	0	1	0	13	0	85	468
PLS1	5357	broad.mit.edu	37	3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000457734.2_Missense_Mutation_p.A366V|PLS1_ENST00000497002.1_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	366	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408																																						ENST00000337777.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1096-1098)gCt>gTt		plastin 1							121.0	115.0	117.0					3																	142408575		2203	4300	6503	SO:0001583	missense	5357	0	0					g.chr3:142408575C>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1097C>T	chr3.hg19:g.142408575C>T	ENSP00000336831:p.Ala366Val	0					PLS1_ENST00000457734.2_Missense_Mutation_p.A366V|PLS1_ENST00000497002.1_Missense_Mutation_p.A366V	p.A366V	NM_002670.2	NP_002661.2	1	2	3	1.998468	Q14651	PLSI_HUMAN		10	1310	+			A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	1	1	hg19	c.1097C>T	CCDS3125.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.370985	0.95923	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95272	-3.66;-3.66;-3.66	5.73	5.73	0.89815	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.94847	3.59	0.80722	D	1	D	0.61080	0.989	P	0.48982	0.597	D	0.97934	1.0322	10	0.87932	D	0	-14.021	19.8966	0.96963	0.0:1.0:0.0:0.0	.	366	Q14651	PLSI_HUMAN	V	366	ENSP00000387890:A366V;ENSP00000336831:A366V;ENSP00000418700:A366V	ENSP00000336831:A366V	A	+	2	0	0	PLS1	143891265	143891265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.748000	0.85085	2.700000	0.92200	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_002670			83	82		350	344	1		1	1		0	0	60	0		1	1	0	68	0	108	0	83	350
PLS1	5357	broad.mit.edu	37	3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000457734.2_Missense_Mutation_p.I628T|PLS1_ENST00000497002.1_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	628						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373																																						ENST00000337777.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1882-1884)aTa>aCa		plastin 1							97.0	95.0	96.0					3																	142430842		2203	4299	6502	SO:0001583	missense	5357	0	0					g.chr3:142430842T>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1883T>C	chr3.hg19:g.142430842T>C	ENSP00000336831:p.Ile628Thr	0					PLS1_ENST00000457734.2_Missense_Mutation_p.I628T|PLS1_ENST00000497002.1_Missense_Mutation_p.I628T	p.I628T	NM_002670.2	NP_002661.2	1	2	3	1.998468	Q14651	PLSI_HUMAN		16	2096	+			A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	1	1	hg19	c.1883T>C	CCDS3125.1	1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486437	0.44147	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	T;T;T	0.51071	0.72;0.72;0.72	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.492528	0.25701	N	0.028867	T	0.34687	0.0906	N	0.14661	0.345	0.32581	N	0.528457	B	0.09022	0.002	B	0.08055	0.003	T	0.44574	-0.9319	10	0.87932	D	0	-4.7218	15.9507	0.79835	0.0:0.0:0.0:1.0	.	628	Q14651	PLSI_HUMAN	T	628	ENSP00000387890:I628T;ENSP00000336831:I628T;ENSP00000418700:I628T	ENSP00000336831:I628T	I	+	2	0	0	PLS1	143913532	143913532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.178000	0.69098	0.454000	0.30748	ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_002670			110	105		448	440	1		1	1		0	0	104	0		1	1	0	106	0	118	0	110	448
TRPC1	7220	broad.mit.edu	37	3	142443464	142443464	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000476941.1	+	1	549	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000273482.6_Silent_p.S21S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	21					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642																																						ENST00000476941.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(61-63)tcC>tcA		transient receptor potential cation channel, subfamily C, member 1							79.0	72.0	74.0					3																	142443464		2203	4300	6503	SO:0001819	synonymous_variant	7220	0	0					g.chr3:142443464C>A	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.63C>A	chr3.hg19:g.142443464C>A		0					TRPC1_ENST00000273482.6_Silent_p.S21S	p.S21S	NM_001251845.1	NP_001238774.1	1	2	3	1.998468	P48995	TRPC1_HUMAN		1	549	+			Q14CE4	Silent	SNP	ENST00000476941.1	1	1	hg19	c.63C>A	CCDS58856.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_003304			32	30		99	98	1		1	0		0	0	26	0		1	4.594872e-01	0	1	0	5	0	32	99
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3. {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)				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)		GGCCCCAAGGGGAACTTCTCT	0.433																																						ENST00000446702.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(2422-2424)Gga>Tga		contactin 6							192.0	200.0	197.0					3																	1424997		2203	4300	6503	SO:0001587	stop_gained	27255	0	0					g.chr3:1424997G>T	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.2422G>T	chr3.hg19:g.1424997G>T	ENSP00000407822:p.Gly808*	0					CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*	p.G808*			1	2	3	1.998468	Q9UQ52	CNTN6_HUMAN		19	3049	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	0	1	hg19	c.2422G>T	CCDS2557.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.272061	0.99120	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.58	3.8	0.43715	5.58	3.8	0.43715	.	0.229512	0.30547	N	0.009391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.3055	0.54900	0.1271:0.0:0.8729:0.0	.	.	.	.	X	808;736;808	.	ENSP00000341882:G808X	G	+	1	0	0	CNTN6	1399997	1399997	0.996000	0.38824	0.339000	0.25562	0.227000	0.25037	2.570000	0.45981	0.751000	0.32900	-0.469000	0.05056	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-2.972779	1	0.170000	NM_014461			202	200		957	942	1		1			0	0	208	0		1	0	0	0	0	0	0	202	957
TRPC1	7220	broad.mit.edu	37	3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000476941.1	+	4	1048	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P154S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	188					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383																																						ENST00000476941.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(562-564)Ccc>Tcc		transient receptor potential cation channel, subfamily C, member 1							167.0	172.0	170.0					3																	142467232		2203	4300	6503	SO:0001583	missense	7220	0	0					g.chr3:142467232C>T	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.562C>T	chr3.hg19:g.142467232C>T	ENSP00000419313:p.Pro188Ser	0					TRPC1_ENST00000273482.6_Missense_Mutation_p.P154S	p.P188S	NM_001251845.1	NP_001238774.1	1	2	3	1.998468	P48995	TRPC1_HUMAN		4	1048	+			Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	1	1	hg19	c.562C>T	CCDS58856.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038560	0.93630	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;T	0.81499	-1.5;0.66	5.59	5.59	0.84812	5.59	5.59	0.84812	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93472	0.6820	10	0.87932	D	0	-24.4598	19.5934	0.95525	0.0:1.0:0.0:0.0	.	188;154	P48995;P48995-2	TRPC1_HUMAN;.	S	188;154	ENSP00000419313:P188S;ENSP00000273482:P154S	ENSP00000273482:P154S	P	+	1	0	0	TRPC1	143949922	143949922	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.641000	0.89580	0.460000	0.39030	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_003304			172	168		649	641	1		1	1		0	0	158	0		1	9.511276e-01	0	5	0	16	0	172	649
TRPC1	7220	broad.mit.edu	37	3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000476941.1	+	11	2291	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.A568V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	602					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383																																						ENST00000476941.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				37						c.(1804-1806)gCg>gTg		transient receptor potential cation channel, subfamily C, member 1							119.0	108.0	112.0					3																	142522866		2203	4300	6503	SO:0001583	missense	7220	0	0					g.chr3:142522866C>T	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.1805C>T	chr3.hg19:g.142522866C>T	ENSP00000419313:p.Ala602Val	0					TRPC1_ENST00000273482.6_Missense_Mutation_p.A568V|RNU7-47P_ENST00000515978.1_RNA	p.A602V	NM_001251845.1	NP_001238774.1	1	2	3	1.998468	P48995	TRPC1_HUMAN		11	2291	+			Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	1	1	hg19	c.1805C>T	CCDS58856.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115998	0.37339	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98567	-5.0;-5.0	5.33	5.33	0.75918	5.33	5.33	0.75918	Ion transport (1);	0.051544	0.85682	D	0.000000	D	0.95906	0.8667	N	0.25789	0.76	0.80722	D	1	D;D;B	0.59767	0.966;0.986;0.132	P;P;B	0.51355	0.575;0.667;0.016	D	0.94098	0.7359	10	0.02654	T	1	-23.4818	14.266	0.66118	0.1489:0.8511:0.0:0.0	.	568;602;568	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	V	602;568;121	ENSP00000419313:A602V;ENSP00000273482:A568V	ENSP00000273482:A568V	A	+	2	0	0	TRPC1	144005556	144005556	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.848830	1	0.170000	NM_003304			37	37		181	177	1		1	0		0	0	48	0		1	5.797189e-01	0	0	0	11	0	37	181
PCOLCE2	26577	broad.mit.edu	37	3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000295992.3	-	9	1459	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	385	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353																																						ENST00000295992.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1153-1155)Gat>Aat		procollagen C-endopeptidase enhancer 2							114.0	106.0	109.0					3																	142537272		2203	4300	6503	SO:0001583	missense	26577	0	0					g.chr3:142537272C>T	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.1153G>A	chr3.hg19:g.142537272C>T	ENSP00000295992:p.Asp385Asn	0					PCOLCE2_ENST00000485766.1_3'UTR	p.D385N	NM_013363.3	NP_037495.1	1	2	3	1.998468	Q9UKZ9	PCOC2_HUMAN		9	1459	-			B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	1	1	hg19	c.1153G>A	CCDS3127.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004047	0.93287	.	.	ENSG00000163710	ENST00000295992	T	0.30981	1.51	5.06	5.06	0.68205	5.06	5.06	0.68205	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099828	0.64402	D	0.000002	T	0.31482	0.0798	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.28305	0.088	T	0.09271	-1.0682	10	0.16420	T	0.52	-22.7218	18.4156	0.90568	0.0:1.0:0.0:0.0	.	385	Q9UKZ9	PCOC2_HUMAN	N	385	ENSP00000295992:D385N	ENSP00000295992:D385N	D	-	1	0	0	PCOLCE2	144019962	144019962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.978000	0.76147	2.351000	0.79841	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_013363			96	95		356	352	1		1	1		0	0	76	0		1	9.854409e-01	0	12	0	15	0	96	356
PAQR9	344838	broad.mit.edu	37	3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	146						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637																																						ENST00000340634.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998841	0.990000	1.000000																										0				22						c.(436-438)tCg>tTg		progestin and adipoQ receptor family member IX							44.0	43.0	43.0					3																	142681742		2203	4300	6503	SO:0001583	missense	344838	0	0					g.chr3:142681742G>A	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.437C>T	chr3.hg19:g.142681742G>A	ENSP00000341564:p.Ser146Leu	0					RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	p.S146L	NM_198504.2	NP_940906.1	1	2	3	1.998468	Q6ZVX9	PAQR9_HUMAN		1	436	-			Q147T6	Missense_Mutation	SNP	ENST00000340634.3	1	1	hg19	c.437C>T	CCDS3128.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225335	0.79576	.	.	ENSG00000188582	ENST00000340634	T	0.37235	1.21	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.095555	0.44285	D	0.000468	T	0.61887	0.2383	M	0.75447	2.3	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.67875	-0.5557	10	0.87932	D	0	-20.5751	17.8396	0.88711	0.0:0.0:1.0:0.0	.	146	Q6ZVX9	PAQR9_HUMAN	L	146	ENSP00000341564:S146L	ENSP00000341564:S146L	S	-	2	0	0	PAQR9	144164432	144164432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.277000	0.76020	0.462000	0.41574	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_198504			25	25		167	165	1		1	0		0	0	34	0		9.999999e-01	0	0	0	0	1	0	25	167
PAQR9	344838	broad.mit.edu	37	3	142681855	142681855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	108						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627																																						ENST00000340634.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(322-324)agC>agT		progestin and adipoQ receptor family member IX							77.0	83.0	81.0					3																	142681855		2203	4300	6503	SO:0001819	synonymous_variant	344838	0	0					g.chr3:142681855G>A	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.324C>T	chr3.hg19:g.142681855G>A		0					RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	p.S108S	NM_198504.2	NP_940906.1	1	2	3	1.998468	Q6ZVX9	PAQR9_HUMAN		1	323	-			Q147T6	Silent	SNP	ENST00000340634.3	1	1	hg19	c.324C>T	CCDS3128.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_198504			52	50		171	165	1		1	0		0	0	40	0		1	5.628319e-02	0	0	0	2	0	52	171
CHST2	9435	broad.mit.edu	37	3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	293					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662																																						ENST00000309575.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				22						c.(877-879)gaG>gaT		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							25.0	26.0	25.0					3																	142840537		2197	4298	6495	SO:0001583	missense	9435	0	0					g.chr3:142840537G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.879G>T	chr3.hg19:g.142840537G>T	ENSP00000307911:p.Glu293Asp	0						p.E293D	NM_004267.4	NP_004258.2	1	2	3	1.998468	Q9Y4C5	CHST2_HUMAN		2	2263	+			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	1	1	hg19	c.879G>T	CCDS3129.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592743	0.66219	.	.	ENSG00000175040	ENST00000309575	D	0.96554	-4.05	4.38	0.464	0.16706	4.38	0.464	0.16706	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.96065	0.8718	L	0.53561	1.675	0.39569	D	0.969251	D	0.61080	0.989	D	0.64321	0.924	D	0.93768	0.7072	10	0.45353	T	0.12	-18.7552	8.4754	0.33009	0.3951:0.0:0.6049:0.0	.	293	Q9Y4C5	CHST2_HUMAN	D	293	ENSP00000307911:E293D	ENSP00000307911:E293D	E	+	3	2	2	CHST2	144323227	144323227	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	0.494000	0.22467	0.143000	0.18926	-0.481000	0.04817	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_004267			18	17		57	57	1		1	1		0	0	16	0		9.999919e-01	9.999982e-01	0	34	0	52	0	18	57
CHST2	9435	broad.mit.edu	37	3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGAGCTCACCGCATGCCC	0.701																																						ENST00000309575.3	1.000000	0.240000	6.700000e-01	3.400000e-01	0.480000	0.516328	0.480000	0.440000																										0				22						c.(1090-1092)cAc>cGc		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							20.0	24.0	23.0					3																	142840749		2201	4293	6494	SO:0001583	missense	9435	0	0					g.chr3:142840749A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1091A>G	chr3.hg19:g.142840749A>G	ENSP00000307911:p.His364Arg	0						p.H364R	NM_004267.4	NP_004258.2	1	2	3	1.998468	Q9Y4C5	CHST2_HUMAN		2	2475	+			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	1	1	hg19	c.1091A>G	CCDS3129.1	0	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735448	0.15574	.	.	ENSG00000175040	ENST00000309575	D	0.96073	-3.9	4.47	4.47	0.54385	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.077814	0.51477	D	0.000090	D	0.84520	0.5490	N	0.02802	-0.49	0.40449	D	0.980125	B	0.06786	0.001	B	0.09377	0.004	T	0.79374	-0.1830	10	0.10636	T	0.68	-0.7931	8.6097	0.33795	0.9136:0.0:0.0864:0.0	.	364	Q9Y4C5	CHST2_HUMAN	R	364	ENSP00000307911:H364R	ENSP00000307911:H364R	H	+	2	0	0	CHST2	144323439	144323439	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.052000	0.76634	1.882000	0.54519	0.334000	0.21626	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	0	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-16.131170	1	0.170000	NM_004267			10	10		250	242	0		1	1		0	0	31	0		9.965307e-01	7.553122e-01	0	3	0	66	0	10	250
C3orf58	205428	broad.mit.edu	37	3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	78					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)				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						GAGGCGTGGGGCCGCTTGCGC	0.682																																						ENST00000315691.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(232-234)gGc>gAc		chromosome 3 open reading frame 58							31.0	34.0	33.0					3																	143691407		2190	4271	6461	SO:0001583	missense	205428	0	0					g.chr3:143691407G>A	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.233G>A	chr3.hg19:g.143691407G>A	ENSP00000320081:p.Gly78Asp	0					C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	p.G78D	NM_173552.3	NP_775823.1	1	2	3	1.998468	Q8NDZ4	DIA1_HUMAN		1	768	+			B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	1	1	hg19	c.233G>A	CCDS3130.1	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641408	0.67244	.	.	ENSG00000181744	ENST00000315691	T	0.29917	1.55	3.81	3.81	0.43845	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	D	0.54964	0.969	P	0.54431	0.752	T	0.05869	-1.0859	10	0.09590	T	0.72	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	78	Q8NDZ4	CC058_HUMAN	D	78	ENSP00000320081:G78D	ENSP00000320081:G78D	G	+	2	0	0	C3orf58	145174097	145174097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_173552			56	56		282	280	1		1	1		0	0	59	0		1	7.691304e-01	0	3	0	13	0	56	282
C3orf58	205428	broad.mit.edu	37	3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000315691.3	+	2	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	264					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)				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						AGTTGACCTCGCTTGGCAATT	0.418																																						ENST00000315691.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(790-792)Gct>Act		chromosome 3 open reading frame 58							185.0	171.0	176.0					3																	143704517		2203	4300	6503	SO:0001583	missense	205428	0	0					g.chr3:143704517G>A	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.790G>A	chr3.hg19:g.143704517G>A	ENSP00000320081:p.Ala264Thr	0					C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T	p.A264T	NM_173552.3	NP_775823.1	1	2	3	1.998468	Q8NDZ4	DIA1_HUMAN		2	1325	+			B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	1	1	hg19	c.790G>A	CCDS3130.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.328449	0.95733	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.58652	0.32	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.80623	-0.1300	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	55;264	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	T	264;55;70;26	ENSP00000320081:A264T	ENSP00000320081:A264T	A	+	1	0	0	C3orf58	145187207	145187207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.392000	0.81423	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	0		2	2	2	0		0	0	166		166	164	1	2.060000	-20.000000	1	0.170000	NM_173552			177	173		755	739	1		1	1		0	0	166	0		1	1	0	22	0	103	0	177	755
C3orf58	205428	broad.mit.edu	37	3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000315691.3	+	2	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	287					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)				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						CTACCTCCTGGACGTCAGCTT	0.403																																						ENST00000315691.3	1.000000	0.860000	1	9.600000e-01	0.990000	0.985882	0.990000	1.000000																										0				21						c.(859-861)Gac>Aac		chromosome 3 open reading frame 58							167.0	151.0	156.0					3																	143704586		2203	4300	6503	SO:0001583	missense	205428	0	0					g.chr3:143704586G>A	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.859G>A	chr3.hg19:g.143704586G>A	ENSP00000320081:p.Asp287Asn	0					C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N	p.D287N	NM_173552.3	NP_775823.1	1	2	3	1.998468	Q8NDZ4	DIA1_HUMAN		2	1394	+			B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	1	1	hg19	c.859G>A	CCDS3130.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.281599	0.95489	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55052	0.54	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.981	T	0.78130	-0.2324	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	78;287	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	N	287;78;93;49	ENSP00000320081:D287N	ENSP00000320081:D287N	D	+	1	0	0	C3orf58	145187276	145187276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	0		2	2	2	0		0	0	143		143	143	1	2.060000	-19.939930	1	0.170000	NM_173552			82	82		820	807	1		1	1		0	0	143	0		1	9.915845e-01	0	7	0	67	0	82	820
SLC6A6	6533	broad.mit.edu	37	3	14489097	14489097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000416216.2_Silent_p.G124G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	124					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542																																						ENST00000454876.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(370-372)ggC>ggA		solute carrier family 6 (neurotransmitter transporter), member 6							386.0	371.0	376.0					3																	14489097		2203	4300	6503	SO:0001819	synonymous_variant	6533	0	0					g.chr3:14489097C>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.372C>A	chr3.hg19:g.14489097C>A		0					SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G	p.G124G			1	2	3	1.998468	P31641	SC6A6_HUMAN		5	701	+			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	1	1	hg19	c.372C>A	CCDS33705.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	1		2	2	2	0		0	0	524		524	515	1	2.060000	-20.000000	1	0.170000	NM_003043			461	453		1906	1876	1		1	1		0	0	524	0		1	1	0	16	0	254	0	461	1906
SLC6A6	6533	broad.mit.edu	37	3	14489241	14489241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	ENST00000454876.2	+	5	845	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	172					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCACTGCATGGAGGACACCA	0.562																																						ENST00000454876.2	1.000000	0.280000	5.400000e-01	3.500000e-01	0.430000	0.467139	0.430000	0.430000																										0				28						c.(514-516)atG>atA		solute carrier family 6 (neurotransmitter transporter), member 6							239.0	183.0	202.0					3																	14489241		2203	4300	6503	SO:0001583	missense	6533	0	0					g.chr3:14489241G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.516G>A	chr3.hg19:g.14489241G>A	ENSP00000398063:p.Met172Ile	0					SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I	p.M172I			1	2	3	1.998468	P31641	SC6A6_HUMAN		5	845	+			B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	0	1	hg19	c.516G>A	CCDS33705.1	0	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408703	0.42715	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.73681	-0.77;-0.77;-0.77	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.422227	0.27518	N	0.019004	T	0.44201	0.1282	N	0.00327	-1.64	0.46396	D	0.999026	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.35671	T	0.21	.	18.0716	0.89408	0.0:0.0:1.0:0.0	.	172	P31641	SC6A6_HUMAN	I	172	ENSP00000398063:M172I;ENSP00000354107:M172I;ENSP00000401167:M172I	ENSP00000354107:M172I	M	+	3	0	0	SLC6A6	14464245	14464245	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.810000	0.55613	2.268000	0.75426	0.404000	0.27445	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	0	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-3.101065	1	0.170000	NM_003043			28	26		753	746	0		1	1		0	0	175	0		1	9.993656e-01	0	2	0	299	0	28	753
SLC6A6	6533	broad.mit.edu	37	3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	423					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532																																						ENST00000454876.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1267-1269)aGg>aTg		solute carrier family 6 (neurotransmitter transporter), member 6							197.0	161.0	173.0					3																	14518771		2203	4300	6503	SO:0001583	missense	6533	0	0					g.chr3:14518771G>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1268G>T	chr3.hg19:g.14518771G>T	ENSP00000398063:p.Arg423Met	0					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M	p.R423M			1	2	3	1.998468	P31641	SC6A6_HUMAN		11	1597	+			B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	1	1	hg19	c.1268G>T	CCDS33705.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325558	0.81580	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76060	-0.99;-0.99	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.132495	0.64402	D	0.000002	D	0.87313	0.6146	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89565	0.3809	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	423	P31641	SC6A6_HUMAN	M	423	ENSP00000398063:R423M;ENSP00000354107:R423M	ENSP00000354107:R423M	R	+	2	0	0	SLC6A6	14493775	14493775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.325000	0.78763	0.491000	0.48974	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-3.206273	1	0.170000	NM_003043			94	93		380	376	1		1	1		0	0	74	0		1	1	0	2	0	329	0	94	380
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517																																						ENST00000454876.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1282-1284)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 6							183.0	151.0	162.0					3																	14518786		2203	4300	6503	SO:0001583	missense	6533	0	0					g.chr3:14518786G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1283G>A	chr3.hg19:g.14518786G>A	ENSP00000398063:p.Arg428Gln	0					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q	p.R428Q			1	2	3	1.998468	P31641	SC6A6_HUMAN		11	1612	+			B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	1	1	hg19	c.1283G>A	CCDS33705.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.526231	0.96431	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81821	-1.54;-1.54	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.110564	0.64402	D	0.000008	D	0.90442	0.7007	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.92445	0.5965	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	428	P31641	SC6A6_HUMAN	Q	428	ENSP00000398063:R428Q;ENSP00000354107:R428Q	ENSP00000354107:R428Q	R	+	2	0	0	SLC6A6	14493790	14493790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.779000	0.99018	2.325000	0.78763	0.491000	0.48974	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-3.243348	1	0.170000	NM_003043			95	94		346	342	1		1	1		0	0	66	0		1	1	0	6	0	338	0	95	346
SLC6A6	6533	broad.mit.edu	37	3	14518805	14518805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	434					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522																																						ENST00000454876.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1300-1302)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 6							161.0	132.0	142.0					3																	14518805		2203	4300	6503	SO:0001819	synonymous_variant	6533	1	121412	36				g.chr3:14518805C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1302C>T	chr3.hg19:g.14518805C>T		0					SLC6A6_ENST00000360861.3_Silent_p.F434F	p.F434F			1	2	3	1.998468	P31641	SC6A6_HUMAN		11	1631	+			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	1	1	hg19	c.1302C>T	CCDS33705.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	0		2	2	2	0		0	0	75		75	75	1	2.060000	-3.531742	1	0.170000	NM_003043			97	97		368	361	0		1	1		0	0	75	0		1	1	0	8	0	209	0	97	368
GRIP2	80852	broad.mit.edu	37	3	14547207	14547207	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	ENST00000273083.3	-	0	2553							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTCCTCCGGGGCTCGGTGGG	0.682																																						ENST00000273083.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999393	0.990000	1.000000																										0				25								glutamate receptor interacting protein 2							19.0	22.0	21.0					3																	14547207		1949	4108	6057			80852	0	0					g.chr3:14547207G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		chr3.hg19:g.14547207G>A		0									1	2	3	1.998468	Q9C0E4	GRIP2_HUMAN		0	2553	-			Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.999700	1	0.170000	NM_001080423			12	11		47	46	0		1			0	0	9	0		9.993218e-01	0	0	0	0	0	0	12	47
GRIP2	80852	broad.mit.edu	37	3	14548392	14548392	+	RNA	SNP	C	C	T	rs374577398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657																																						ENST00000273083.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999699	0.990000	1.000000																										0				25								glutamate receptor interacting protein 2		C	HIS/ARG	0,4036		0,0,2018	17.0	22.0	20.0		2605	2.7	0.1	3		20	1,8333		0,1,4166	no	missense	GRIP2	NM_001080423.2	29	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	benign	869/1141	14548392	1,12369	2018	4167	6185			80852	5	120892	29				g.chr3:14548392C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		chr3.hg19:g.14548392C>T		0									1	2	3	1.998468	Q9C0E4	GRIP2_HUMAN		0	2379	-			Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001080423			15	15		64	64	0		1	0		0	0	13	0		9.999274e-01	0	0	0	0	1	0	15	64
GRIP2	80852	broad.mit.edu	37	3	14566999	14566999	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	ENST00000273083.3	-	0	267							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCCTTGTCGGTGCCACCT	0.617																																						ENST00000273083.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.990533	0.990000	1.000000																										0				25								glutamate receptor interacting protein 2							70.0	73.0	72.0					3																	14566999		1990	4172	6162			80852	0	0					g.chr3:14566999C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		chr3.hg19:g.14566999C>T		0									1	2	3	1.998468	Q9C0E4	GRIP2_HUMAN		0	267	-			Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-12.666550	1	0.170000	NM_001080423			34	33		298	295	0		1	0		0	0	55	0		1	4.355497e-01	0	1	0	13	0	34	298
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Silent_p.E163E	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	401					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)				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						TGCTGGATGAGTGTGCCAACC	0.507																																						ENST00000315691.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1201-1203)gaG>gaA		chromosome 3 open reading frame 58							85.0	87.0	86.0					3																	143708593		2203	4300	6503	SO:0001819	synonymous_variant	205428	1	121412	30				g.chr3:143708593G>A	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.1203G>A	chr3.hg19:g.143708593G>A		0					C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Silent_p.E192E	p.E401E	NM_173552.3	NP_775823.1	1	2	3	1.998468	Q8NDZ4	DIA1_HUMAN		3	1738	+			B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	1	1	hg19	c.1203G>A	CCDS3130.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_173552			64	63		296	286	1		1	1		0	0	74	0		1	9.999944e-01	0	15	0	69	0	64	296
PLSCR4	57088	broad.mit.edu	37	3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	289					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)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428																																						ENST00000354952.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(865-867)Gct>Act		phospholipid scramblase 4							176.0	143.0	154.0					3																	145912991		2203	4300	6503	SO:0001583	missense	57088	0	0					g.chr3:145912991C>T	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.865G>A	chr3.hg19:g.145912991C>T	ENSP00000347038:p.Ala289Thr	0					PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T	p.A289T	NM_020353.2	NP_065086.2	1	2	3	1.998468	Q9NRQ2	PLS4_HUMAN		8	1105	-			A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	1	1	hg19	c.865G>A	CCDS3133.1	1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960136	0.34565	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	3.87	0.44632	4.75	3.87	0.44632	.	0.106971	0.41823	D	0.000804	T	0.34221	0.0890	L	0.49640	1.575	0.31693	N	0.641593	P;P	0.49185	0.58;0.92	B;P	0.50860	0.365;0.652	T	0.41466	-0.9507	10	0.46703	T	0.11	.	7.3351	0.26605	0.1703:0.7433:0.0:0.0864	.	199;289	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	289;199;184;289;289	ENSP00000347038:A289T;ENSP00000372561:A199T;ENSP00000415605:A184T;ENSP00000399315:A289T;ENSP00000419040:A289T	ENSP00000347038:A289T	A	-	1	0	0	PLSCR4	147395681	147395681	0.591000	0.26824	0.981000	0.43875	0.012000	0.07955	0.804000	0.27098	1.334000	0.45468	-0.282000	0.10007	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_020353			69	68		341	337	1		1	1		0	0	59	0		1	1	0	27	0	161	0	69	341
PLSCR2	57047	broad.mit.edu	37	3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	127					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353																																						ENST00000497985.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(379-381)aTt>aCt		phospholipid scramblase 2							101.0	106.0	104.0					3																	146173186		2203	4300	6503	SO:0001583	missense	57047	0	0					g.chr3:146173186A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.380T>C	chr3.hg19:g.146173186A>G	ENSP00000420132:p.Ile127Thr	0					PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	p.I127T	NM_001199978.1	NP_001186907.1	1	2	3	1.998468	Q9NRY7	PLS2_HUMAN		6	819	-			B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	1	1	hg19	c.380T>C	CCDS56284.1	1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117965	0.77323	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.25912	1.77;1.77;1.77	3.1	3.1	0.35709	3.1	3.1	0.35709	.	0.167404	0.24012	U	0.042371	T	0.46964	0.1420	M	0.85462	2.755	0.25922	N	0.983107	P;P	0.46578	0.88;0.772	P;B	0.54544	0.755;0.345	T	0.43228	-0.9404	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	147;54	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	54;146;127;54	ENSP00000338707:I54T;ENSP00000420132:I127T;ENSP00000418444:I54T	ENSP00000338707:I54T	I	-	2	0	0	PLSCR2	147655876	147655876	0.945000	0.32115	0.003000	0.11579	0.862000	0.49288	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_020359			89	89		409	404	1		1			0	0	99	0		1	0	0	0	0	0	0	89	409
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000383075.3	-	4	1489	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	326						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				57						c.(976-978)gCg>gTg		Zic family member 4							13.0	17.0	16.0					3																	147108745		2012	4130	6142	SO:0001583	missense	84107	0	0					g.chr3:147108745G>A	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.977C>T	chr3.hg19:g.147108745G>A	ENSP00000372553:p.Ala326Val	0					ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V	p.A326V	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		4	1489	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	1	1	hg19	c.977C>T	CCDS43160.1	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812991	0.32053	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11930	2.81;2.79;2.73;2.81;2.81;2.76	5.18	2.38	0.29361	5.18	2.38	0.29361	.	0.655713	0.12653	N	0.450327	T	0.04724	0.0128	N	0.02765	-0.5	0.30740	N	0.7463139999999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.41502	-0.9505	9	0.02654	T	1	.	9.5086	0.39062	0.2357:0.0:0.7643:0.0	.	376;326	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	326;364;376;326;326;120	ENSP00000372553:A326V;ENSP00000397695:A364V;ENSP00000435509:A376V;ENSP00000417855:A326V;ENSP00000420775:A326V;ENSP00000418277:A120V	ENSP00000372553:A326V	A	-	2	0	0	ZIC4	148591435	148591435	0.000000	0.05858	0.835000	0.33067	0.798000	0.45092	0.609000	0.24238	0.190000	0.20209	0.561000	0.74099	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000				31	30		170	168	0		1			0	0	33	0		1	0	0	0	0	0	0	31	170
ZIC4	84107	broad.mit.edu	37	3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000383075.3	-	4	1461	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	317						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711																																						ENST00000383075.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.987883	0.990000	1.000000																										0				57						c.(949-951)Tcc>Ccc		Zic family member 4							20.0	26.0	24.0					3																	147108773		2092	4229	6321	SO:0001583	missense	84107	0	0					g.chr3:147108773A>G	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.949T>C	chr3.hg19:g.147108773A>G	ENSP00000372553:p.Ser317Pro	0					ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P	p.S317P	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		4	1461	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	1	1	hg19	c.949T>C	CCDS43160.1	1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031833	0.07543	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.78;2.75;2.82;2.82;2.8	5.18	3.34	0.38264	5.18	3.34	0.38264	.	0.305498	0.23266	N	0.050073	T	0.03608	0.0103	N	0.03029	-0.43	0.31564	N	0.657196	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.11182	T	0.66	.	6.6134	0.22763	0.1603:0.0:0.6942:0.1455	.	367;317	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	317;355;367;317;317;111	ENSP00000372553:S317P;ENSP00000397695:S355P;ENSP00000435509:S367P;ENSP00000417855:S317P;ENSP00000420775:S317P;ENSP00000418277:S111P	ENSP00000372553:S317P	S	-	1	0	0	ZIC4	148591463	148591463	1.000000	0.71417	0.566000	0.28421	0.106000	0.19336	4.339000	0.59322	0.531000	0.28639	-0.366000	0.07423	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				27	27		234	232	1		1			0	0	35	0		1	0	0	0	0	0	0	27	234
ZIC4	84107	broad.mit.edu	37	3	147108846	147108846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000383075.3	-	4	1388	c.876G>A	c.(874-876)ccG>ccA	p.P292P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Silent_p.P86P|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	292						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(874-876)ccG>ccA		Zic family member 4							31.0	40.0	37.0					3																	147108846		2181	4281	6462	SO:0001819	synonymous_variant	84107	0	0					g.chr3:147108846C>T	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.876G>A	chr3.hg19:g.147108846C>T		0					ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000491672.1_Silent_p.P86P	p.P292P	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		4	1388	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	1	1	hg19	c.876G>A	CCDS43160.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				60	59		271	264	1		1			0	0	53	0		1	0	0	0	0	0	0	60	271
ZIC4	84107	broad.mit.edu	37	3	147108909	147108909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000383075.3	-	4	1325	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Silent_p.C65C|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(811-813)tgC>tgT		Zic family member 4							41.0	47.0	45.0					3																	147108909		2203	4300	6503	SO:0001819	synonymous_variant	84107	0	0					g.chr3:147108909G>A	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.813C>T	chr3.hg19:g.147108909G>A		0					ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000491672.1_Silent_p.C65C	p.C271C	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		4	1325	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	1	1	hg19	c.813C>T	CCDS43160.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				52	51		211	207	0		1			0	0	32	0		1	0	0	0	0	0	0	52	211
ZIC4	84107	broad.mit.edu	37	3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000383075.3	-	3	855	c.343G>A	c.(343-345)Gct>Act	p.A115T	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	115						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(343-345)Gct>Act		Zic family member 4							30.0	36.0	34.0					3																	147113984		2199	4298	6497	SO:0001583	missense	84107	0	0					g.chr3:147113984C>T	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.343G>A	chr3.hg19:g.147113984C>T	ENSP00000372553:p.Ala115Thr	0					ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T|ZIC4_ENST00000491672.1_Intron	p.A115T	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		3	855	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	1	1	hg19	c.343G>A	CCDS43160.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.511829	0.96402	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.45867	D	0.000338	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	165;115	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	115;153;165;115;115;115	ENSP00000372553:A115T;ENSP00000397695:A153T;ENSP00000435509:A165T;ENSP00000417855:A115T;ENSP00000420775:A115T;ENSP00000420627:A115T	ENSP00000372553:A115T	A	-	1	0	0	ZIC4	148596674	148596674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				66	66		233	229	1		1			0	0	53	0		1	0	0	0	0	0	0	66	233
ZIC4	84107	broad.mit.edu	37	3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000383075.3	-	3	808	c.296G>A	c.(295-297)gGg>gAg	p.G99E	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	99						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(295-297)gGg>gAg		Zic family member 4							17.0	22.0	20.0					3																	147114031		2147	4266	6413	SO:0001583	missense	84107	1	121050	23				g.chr3:147114031C>T	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.296G>A	chr3.hg19:g.147114031C>T	ENSP00000372553:p.Gly99Glu	0					ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E|ZIC4_ENST00000491672.1_Intron	p.G99E	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		3	808	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	1	1	hg19	c.296G>A	CCDS43160.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902339	0.92035	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000258	T	0.59445	0.2194	M	0.68593	2.085	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.57009	0.621;0.811	T	0.64158	-0.6473	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	149;99	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	99;137;149;99;99;99	ENSP00000372553:G99E;ENSP00000397695:G137E;ENSP00000435509:G149E;ENSP00000417855:G99E;ENSP00000420775:G99E;ENSP00000420627:G99E	ENSP00000372553:G99E	G	-	2	0	0	ZIC4	148596721	148596721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				46	46		159	157	1		1			0	0	38	0		1	0	0	0	0	0	0	46	159
ZIC4	84107	broad.mit.edu	37	3	147114110	147114110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	ENST00000383075.3	-	3	729	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	73						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCGGCCGCGCGTACATGTCT	0.716																																						ENST00000383075.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				57						c.(217-219)Gcg>Acg		Zic family member 4							10.0	13.0	12.0					3																	147114110		1881	4072	5953	SO:0001583	missense	84107	0	0					g.chr3:147114110C>T	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.217G>A	chr3.hg19:g.147114110C>T	ENSP00000372553:p.Ala73Thr	0					ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T|ZIC4_ENST00000491672.1_Intron	p.A73T	NM_032153.5	NP_115529.2	1	2	3	1.998468	Q8N9L1	ZIC4_HUMAN		3	729	-			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	1	1	hg19	c.217G>A	CCDS43160.1	1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475912	0.63737	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.01	4.13	0.48395	5.01	4.13	0.48395	.	0.364730	0.20039	N	0.100557	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	D;B	0.56746	0.977;0.219	P;B	0.44673	0.457;0.013	T	0.01266	-1.1401	10	0.35671	T	0.21	.	9.2434	0.37511	0.0:0.8383:0.0:0.1617	.	123;73	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	73;111;123;73;73;73;73	ENSP00000372553:A73T;ENSP00000397695:A111T;ENSP00000435509:A123T;ENSP00000417855:A73T;ENSP00000420775:A73T;ENSP00000420627:A73T	ENSP00000372553:A73T	A	-	1	0	0	ZIC4	148596800	148596800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.565000	0.36386	2.321000	0.78463	0.561000	0.74099	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				28	28		107	103	0		1			0	0	14	0		1	0	0	0	0	0	0	28	107
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					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)			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						ACATGGCCGCGCATCACGGCG	0.652																																						ENST00000282928.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(616-618)gcG>gcA		Zic family member 1							42.0	45.0	44.0					3																	147128517		2203	4300	6503	SO:0001819	synonymous_variant	7545	0	0					g.chr3:147128517G>A	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.618G>A	chr3.hg19:g.147128517G>A		0						p.A206A	NM_003412.3	NP_003403.2	1	2	3	1.998468	Q15915	ZIC1_HUMAN		1	1347	+			Q2M3N1	Silent	SNP	ENST00000282928.4	1	1	hg19	c.618G>A	CCDS3136.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-4.516233	1	0.170000	NM_003412			63	63		203	201	1		1	0		0	0	61	0		1	0	0	0	0	1	0	63	203
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					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)			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						GCCTTCTTCCGCTACATGCGC	0.617																																						ENST00000282928.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(643-645)cGc>cAc		Zic family member 1							48.0	49.0	48.0					3																	147128543		2203	4300	6503	SO:0001583	missense	7545	0	0					g.chr3:147128543G>A	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.644G>A	chr3.hg19:g.147128543G>A	ENSP00000282928:p.Arg215His	0						p.R215H	NM_003412.3	NP_003403.2	1	2	3	1.998468	Q15915	ZIC1_HUMAN		1	1373	+			Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	1	1	hg19	c.644G>A	CCDS3136.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000152977	ENST00000282928	T	0.47869	0.83	3.84	3.84	0.44239	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76870	-0.2799	10	0.87932	D	0	.	16.1009	0.81169	0.0:0.0:1.0:0.0	.	215	Q15915	ZIC1_HUMAN	H	215	ENSP00000282928:R215H	ENSP00000282928:R215H	R	+	2	0	0	ZIC1	148611233	148611233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.763000	0.85283	1.847000	0.53656	0.549000	0.68633	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_003412			48	47		197	196	1		1	0		0	0	62	0		1	0	0	0	0	1	0	48	197
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					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)			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						TGCACACGGGCGAGAAGCCCT	0.557																																						ENST00000282928.4	1.000000	0.290000	6.000000e-01	3.700000e-01	0.460000	0.501315	0.460000	0.460000																										0				63						c.(892-894)ggC>ggT		Zic family member 1							94.0	97.0	96.0					3																	147128793		2203	4300	6503	SO:0001819	synonymous_variant	7545	0	0					g.chr3:147128793C>T	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.894C>T	chr3.hg19:g.147128793C>T		0						p.G298G	NM_003412.3	NP_003403.2	1	2	3	1.998468	Q15915	ZIC1_HUMAN		1	1623	+			Q2M3N1	Silent	SNP	ENST00000282928.4	1	1	hg19	c.894C>T	CCDS3136.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	0	0	1		17	2	2	1		1	1	110		110	109	1	2.060000	-2.414638	0	0.170000	NM_003412			21	21		524	516	0		1	0		1	0	110	0		7.802199e-01	0	0	0	0	1	0	21	524
ZIC1	7545	broad.mit.edu	37	3	147131179	147131179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	395	Ser-rich.				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)			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						AGCCTTCGCCGGCCGCCAGCT	0.617																																						ENST00000282928.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1183-1185)ccG>ccA		Zic family member 1							92.0	84.0	87.0					3																	147131179		2203	4300	6503	SO:0001819	synonymous_variant	7545	5	121412	40				g.chr3:147131179G>A	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.1185G>A	chr3.hg19:g.147131179G>A		0						p.P395P	NM_003412.3	NP_003403.2	1	2	3	1.998468	Q15915	ZIC1_HUMAN		3	1914	+			Q2M3N1	Silent	SNP	ENST00000282928.4	1	1	hg19	c.1185G>A	CCDS3136.1	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311996	0.23821	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-2.35	0.06684	3.37	-2.35	0.06684	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	.	3.8539	0.08967	0.1738:0.4747:0.2441:0.1074	.	.	.	.	Q	84	.	.	R	+	2	0	0	ZIC1	148613869	148613869	0.105000	0.21958	0.996000	0.52242	0.964000	0.63967	-0.548000	0.06048	-0.442000	0.07190	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.097595	1	0.170000	NM_003412			102	101		455	443	1		1			0	0	90	0		1	0	0	0	0	0	0	102	455
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A	rs375154586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672																																						ENST00000253697.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1999-2001)ccG>ccA		chromosome 3 open reading frame 20							44.0	44.0	44.0					3																	14798938		2203	4300	6503	SO:0001819	synonymous_variant	84077	0	0					g.chr3:14798938G>A	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.2001G>A	chr3.hg19:g.14798938G>A		0					C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	p.P667P	NM_032137.4	NP_115513.4	1	2	3	1.998468	Q8ND61	CC020_HUMAN		13	2453	+			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	1	1	hg19	c.2001G>A	CCDS33706.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_032137			70	70		246	244	1		1			0	0	55	0		1	0	0	0	0	0	0	70	246
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	A	rs564229372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				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)			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						GCCACAGTGCGCTCTCTTCCA	0.493																																						ENST00000282928.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1309-1311)gcG>gcA		Zic family member 1							97.0	89.0	92.0					3																	147131305		2203	4300	6503	SO:0001819	synonymous_variant	7545	0	0					g.chr3:147131305G>A	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.1311G>A	chr3.hg19:g.147131305G>A		0						p.A437A	NM_003412.3	NP_003403.2	1	2	3	1.998468	Q15915	ZIC1_HUMAN		3	2040	+			Q2M3N1	Silent	SNP	ENST00000282928.4	1	1	hg19	c.1311G>A	CCDS3136.1	1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882233	0.17467	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	H	126	.	.	R	+	2	0	0	ZIC1	148613995	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.386169	1	0.170000	NM_003412			90	87		409	402	1		1	0		0	0	93	0		1	0	0	0	0	1	0	90	409
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A	rs201965283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557																																						ENST00000285046.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1756-1758)tcG>tcA		FYVE, RhoGEF and PH domain containing 5							47.0	49.0	48.0					3																	14862336		1976	4155	6131	SO:0001819	synonymous_variant	152273	2	120908	33				g.chr3:14862336G>A	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.1758G>A	chr3.hg19:g.14862336G>A		0					FGD5_ENST00000543601.1_Silent_p.S345S	p.S586S	NM_152536.3	NP_689749.3	1	2	3	1.998468	Q6ZNL6	FGD5_HUMAN		1	1868	+			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	1	1	hg19	c.1758G>A	CCDS46767.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_152536			70	69		265	262	1		1	1		0	0	50	0		1	9.999908e-01	0	24	0	43	0	70	265
CPB1	1360	broad.mit.edu	37	3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000491148.1	+	11	1350	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	339						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448																																						ENST00000491148.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				38						c.(1015-1017)gCc>gAc		carboxypeptidase B1 (tissue)							118.0	106.0	110.0					3																	148575278		2203	4300	6503	SO:0001583	missense	1360	0	0					g.chr3:148575278C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.1016C>A	chr3.hg19:g.148575278C>A	ENSP00000417222:p.Ala339Asp	0					RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|CPB1_ENST00000498639.1_3'UTR	p.A339D			1	2	3	1.998468	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)	11	1350	+			O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	1	1	hg19	c.1016C>A	CCDS33874.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769244	0.49680	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11277	2.79;2.79	5.89	5.0	0.66597	5.89	5.0	0.66597	Peptidase M14, carboxypeptidase A (2);	0.487974	0.24810	N	0.035419	T	0.13114	0.0318	L	0.55103	1.725	0.37101	D	0.899904	P	0.45634	0.863	B	0.41666	0.363	T	0.20338	-1.0278	10	0.17832	T	0.49	.	15.0493	0.71854	0.1431:0.8569:0.0:0.0	.	339	P15086	CBPB1_HUMAN	D	339	ENSP00000417222:A339D;ENSP00000282957:A339D	ENSP00000282957:A339D	A	+	2	0	0	CPB1	150057968	150057968	0.123000	0.22298	0.064000	0.19789	0.366000	0.29705	3.589000	0.53972	1.452000	0.47756	0.557000	0.71058	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-18.541800	1	0.170000	NM_001871			37	37		208	204	1		1	1		0	0	43	0		1	1	0	2	0	6217	0	37	208
HPS3	84343	broad.mit.edu	37	3	148868428	148868428	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000296051.2	+	6	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_ENST00000460120.1_Silent_p.A237A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	402					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				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)			GTGCGGCGGCAGCTCGTGAGG	0.517									Hermansky-Pudlak syndrome																													ENST00000296051.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1204-1206)gcA>gcG		Hermansky-Pudlak syndrome 3							128.0	113.0	118.0					3																	148868428		2203	4300	6503	SO:0001819	synonymous_variant	84343	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr3:148868428A>G	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.1206A>G	chr3.hg19:g.148868428A>G		0					HPS3_ENST00000460120.1_Silent_p.A237A	p.A402A	NM_032383.3	NP_115759.2	1	2	3	1.998468	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	6	1346	+			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	1	1	hg19	c.1206A>G	CCDS3140.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_032383			56	54		292	286	1		1	1		0	0	60	0		1	9.999600e-01	0	9	0	70	0	56	292
HPS3	84343	broad.mit.edu	37	3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000296051.2	+	13	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	801					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				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)			CTCTTTTTCAAACTCACATCA	0.453									Hermansky-Pudlak syndrome																													ENST00000296051.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2401-2403)aAa>aGa		Hermansky-Pudlak syndrome 3							140.0	135.0	136.0					3																	148880586		2203	4300	6503	SO:0001583	missense	84343	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr3:148880586A>G	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.2402A>G	chr3.hg19:g.148880586A>G	ENSP00000296051:p.Lys801Arg	0					HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	p.K801R	NM_032383.3	NP_115759.2	1	2	3	1.998468	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	13	2542	+			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	1	1	hg19	c.2402A>G	CCDS3140.1	1	.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003406	0.07773	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63096	-0.02;-0.02	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.100378	0.64402	D	0.000003	T	0.39911	0.1096	N	0.12746	0.255	0.80722	D	1	B;B	0.22276	0.013;0.067	B;B	0.18263	0.015;0.021	T	0.34453	-0.9828	10	0.10636	T	0.68	-26.16	10.8737	0.46899	0.9213:0.0:0.0787:0.0	.	636;801	G5E9V4;Q969F9	.;HPS3_HUMAN	R	801;636	ENSP00000296051:K801R;ENSP00000418230:K636R	ENSP00000296051:K801R	K	+	2	0	0	HPS3	150363276	150363276	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	4.735000	0.62051	2.242000	0.73789	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_032383			104	102		375	367	1		1	1		0	0	84	0		1	1	0	6	0	86	0	104	375
CP	1356	broad.mit.edu	37	3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	965	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)			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)	GTTTCCAAACATTCTTCCATT	0.343																																						ENST00000264613.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2893-2895)aTg>aCg		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						189.0	163.0	172.0					3																	148895751		2203	4300	6503	SO:0001583	missense	1356	0	0					g.chr3:148895751A>G	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.2894T>C	chr3.hg19:g.148895751A>G	ENSP00000264613:p.Met965Thr	0						p.M965T	NM_000096.3	NP_000087	1	2	3	1.998468	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	17	3156	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	1	1	hg19	c.2894T>C	CCDS3141.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137328	0.56936	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99784	-6.74;-6.74;-6.74	5.78	5.78	0.91487	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.236543	0.51477	D	0.000095	D	0.98839	0.9608	N	0.16201	0.385	0.51012	D	0.999904	B;P;B;B	0.39404	0.074;0.672;0.158;0.137	B;P;B;B	0.45474	0.096;0.482;0.135;0.276	D	0.99958	1.1678	10	0.33940	T	0.23	-8.8801	16.1149	0.81301	1.0:0.0:0.0:0.0	.	965;965;965;678	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	T	100;965;748	ENSP00000420367:M100T;ENSP00000264613:M965T;ENSP00000420545:M748T	ENSP00000264613:M965T	M	-	2	0	0	CP	150378441	150378441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.317000	0.96327	2.205000	0.71048	0.455000	0.32223	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_000096			92	92		403	393	1		1	1		0	0	90	0		1	1	0	13	0	259	0	92	403
CP	1356	broad.mit.edu	37	3	148925405	148925405	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						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)			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)	CCATTCACAGCTGTAAGTCAA	0.378																																						ENST00000264613.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				44						c.e5-1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						60.0	59.0	59.0					3																	148925405		2203	4300	6503	SO:0001630	splice_region_variant	1356	0	0					g.chr3:148925405C>A	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.782-1G>T	chr3.hg19:g.148925405C>A		0							NM_000096.3	NP_000087	1	2	3	1.998468	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	5	1044	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	1	1	hg19		CCDS3141.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115059	0.77210	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	6.05	6.05	0.98169	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CP	150408095	150408095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.866000	0.98385	0.650000	0.86243	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	0	0	1		14	2	2	1		1	1	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_000096	Intron		42	42		234	230	1		1	0		1	0	68	0		9.999798e-01	2.439339e-02	0	1	0	1	0	42	234
CP	1356	broad.mit.edu	37	3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	24	F5/8 type A 1.|Plastocyanin-like 1.				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)			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)	CCAATGTAATAATGCTTTTCT	0.353																																						ENST00000264613.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(70-72)Tat>Cat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						69.0	71.0	70.0					3																	148939510		2203	4299	6502	SO:0001583	missense	1356	0	0					g.chr3:148939510A>G	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.70T>C	chr3.hg19:g.148939510A>G	ENSP00000264613:p.Tyr24His	0						p.Y24H	NM_000096.3	NP_000087	1	2	3	1.998468	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	1	332	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	1	1	hg19	c.70T>C	CCDS3141.1	1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830786	0.71258	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99735	-5.42;-6.58	5.2	5.2	0.72013	5.2	5.2	0.72013	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	L	0.60904	1.88	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98164	1.0448	10	0.62326	D	0.03	-29.6919	14.1762	0.65542	1.0:0.0:0.0:0.0	.	24;24	A8K5A4;P00450	.;CERU_HUMAN	H	24	ENSP00000264613:Y24H;ENSP00000426888:Y24H	ENSP00000264613:Y24H	Y	-	1	0	0	CP	150422200	150422200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.316000	0.59178	2.097000	0.63578	0.482000	0.46254	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_000096			70	68		280	279	1		1	1		0	0	52	0		1	9.999990e-01	0	6	0	77	0	70	280
TM4SF18	116441	broad.mit.edu	37	3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	100						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438																																						ENST00000296059.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(298-300)Gga>Aga		transmembrane 4 L six family member 18							73.0	72.0	72.0					3																	149042779		2203	4300	6503	SO:0001583	missense	116441	3	121412	36				g.chr3:149042779C>T	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.298G>A	chr3.hg19:g.149042779C>T	ENSP00000296059:p.Gly100Arg	0					RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R	p.G100R	NM_138786.3	NP_620141.1	1	2	3	1.998468	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)	4	563	-			B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	1	1	hg19	c.298G>A	CCDS3142.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599698	0.87055	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.85777	2.775	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.70403	-0.4881	10	0.87932	D	0	-13.8166	17.8373	0.88701	0.0:1.0:0.0:0.0	.	100	Q96CE8	T4S18_HUMAN	R	100	ENSP00000296059:G100R;ENSP00000419278:G100R;ENSP00000418372:G100R	ENSP00000296059:G100R	G	-	1	0	0	TM4SF18	150525469	150525469	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.520000	0.60524	2.745000	0.94114	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.496937	1	0.170000	NM_138786			38	37		166	163	1		1	0		0	0	49	0		1	8.491406e-01	0	0	0	17	0	38	166
WWTR1	25937	broad.mit.edu	37	3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	290					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1	1.000000	0.260000	4.600000e-01	3.100000e-01	0.370000	0.414661	0.370000	0.370000				Dom	yes			Dom	yes		3	3q23-q24	3q23-q24	607392	T	WW domain containing transcription regulator 1				M	M	CAMTA1		epitheliod hemangioendothelioma		0				23						c.(868-870)tCc>tTc		WW domain containing transcription regulator 1							182.0	190.0	187.0					3																	149245659		2203	4300	6503	SO:0001583	missense	25937	0	0					g.chr3:149245659G>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.869C>T	chr3.hg19:g.149245659G>A	ENSP00000419465:p.Ser290Phe	0					WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|RNU6-1098P_ENST00000516772.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F	p.S290F	NM_001168278.1	NP_001161750.1	1	2	3	1.998468	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)	6	1125	-			D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	1	1	hg19	c.869C>T	CCDS3144.1	0	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074916	0.55646	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.50001	0.76;0.76;0.76	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.529823	0.21552	N	0.072719	T	0.37265	0.0997	N	0.17082	0.46	0.34495	D	0.705368	B	0.06786	0.001	B	0.04013	0.001	T	0.46843	-0.9162	10	0.87932	D	0	-13.2046	18.9259	0.92544	0.0:0.0:1.0:0.0	.	290	Q9GZV5	WWTR1_HUMAN	F	290;290;290;148	ENSP00000419465:S290F;ENSP00000353847:S290F;ENSP00000419234:S290F	ENSP00000353847:S290F	S	-	2	0	0	WWTR1	150728349	150728349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.530000	0.85305	0.644000	0.83932	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	0	0	1		2	2	2	0		0	0	219		219	215	1	2.060000	-3.011177	1	0.170000	NM_015472			34	32		1049	1022	0		1	1		0	0	219	0		1	9.999818e-01	0	32	0	467	0	34	1049
WWTR1	25937	broad.mit.edu	37	3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	136	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1	1.000000	0.600000	1	7.700000e-01	0.990000	0.914286	0.990000	1.000000				Dom	yes			Dom	yes		3	3q23-q24	3q23-q24	607392	T	WW domain containing transcription regulator 1				M	M	CAMTA1		epitheliod hemangioendothelioma		0				23						c.(406-408)Gcc>Acc		WW domain containing transcription regulator 1							31.0	28.0	29.0					3																	149374688		2149	4178	6327	SO:0001583	missense	25937	0	0					g.chr3:149374688C>T	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.406G>A	chr3.hg19:g.149374688C>T	ENSP00000419465:p.Ala136Thr	0					WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	p.A136T	NM_001168278.1	NP_001161750.1	1	2	3	1.998468	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)	3	662	-			D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	1	1	hg19	c.406G>A	CCDS3144.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.09	4.22	0.49857	5.09	4.22	0.49857	WW/Rsp5/WWP (6);	0.229124	0.44483	N	0.000444	T	0.74007	0.3660	L	0.35793	1.09	0.29446	N	0.858803	B	0.06786	0.001	B	0.08055	0.003	T	0.69213	-0.5204	10	0.66056	D	0.02	-13.2993	8.6679	0.34132	0.0:0.634:0.2783:0.0877	.	136	Q9GZV5	WWTR1_HUMAN	T	136	ENSP00000419465:A136T;ENSP00000353847:A136T;ENSP00000419234:A136T;ENSP00000418580:A136T	ENSP00000353847:A136T	A	-	1	0	0	WWTR1	150857378	150857378	0.056000	0.20664	1.000000	0.80357	0.944000	0.59088	0.302000	0.19192	1.135000	0.42183	0.462000	0.41574	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.318823	1	0.170000	NM_015472			17	17		190	189	0		1	1		0	0	28	0		9.999706e-01	9.998423e-01	0	18	0	149	0	17	190
RNF13	11342	broad.mit.edu	37	3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000392894.3_Missense_Mutation_p.G91D|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	91	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308																																						ENST00000344229.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				11						c.(271-273)gGc>gAc		ring finger protein 13							82.0	80.0	81.0					3																	149589892		2203	4300	6503	SO:0001583	missense	11342	0	0					g.chr3:149589892G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.272G>A	chr3.hg19:g.149589892G>A	ENSP00000341361:p.Gly91Asp	0					RNF13_ENST00000361785.6_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.G91D	p.G91D	NM_007282.4	NP_009213.1	1	2	3	1.998468	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)	5	974	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	1	1	hg19	c.272G>A	CCDS3146.1	1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699002	0.30142	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.14391	3.33;3.33;2.51;3.33;3.33;3.33	5.28	5.28	0.74379	5.28	5.28	0.74379	Protease-associated domain, PA (1);	0.257441	0.43919	D	0.000519	T	0.13329	0.0323	L	0.56769	1.78	0.44890	D	0.997905	B	0.09022	0.002	B	0.15870	0.014	T	0.07501	-1.0769	10	0.13108	T	0.6	-13.7995	9.7831	0.40660	0.0906:0.0:0.9094:0.0	.	91	O43567	RNF13_HUMAN	D	91	ENSP00000376628:G91D;ENSP00000341361:G91D;ENSP00000420067:G91D;ENSP00000419069:G91D;ENSP00000417655:G91D;ENSP00000417294:G91D	ENSP00000341361:G91D	G	+	2	0	0	RNF13	151072582	151072582	0.033000	0.19621	0.267000	0.24556	0.845000	0.48019	1.079000	0.30766	2.756000	0.94617	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.279328	1	0.170000	NM_183384			33	32		166	165	1		1	1		0	0	28	0		1	1	0	41	0	223	0	33	166
ERICH6	131831	broad.mit.edu	37	3	150403768	150403768	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2														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						GCTCATATAAAATATTTAGTT	0.328																																						ENST00000295910.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(649-651)atT>atC									106.0	116.0	113.0					3																	150403768		2200	4300	6500	SO:0001819	synonymous_variant	0	0	0					g.chr3:150403768A>G																												ENST00000295910.6:c.651T>C	chr3.hg19:g.150403768A>G		0					FAM194A_ENST00000491361.1_Silent_p.I71I	p.I217I	NM_152394.3	NP_689607.2	1	2	3	1.998468				5	703	-				Silent	SNP	ENST00000295910.6	1	1	hg19	c.651T>C	CCDS3151.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				92	87		389	382	1		1			0	0	104	0		1	0	0	0	0	0	0	92	389
SIAH2	6478	broad.mit.edu	37	3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567																																						ENST00000312960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(814-816)Cgg>Tgg		siah E3 ubiquitin protein ligase 2							91.0	72.0	78.0					3																	150460089		2203	4300	6503	SO:0001583	missense	6478	0	0					g.chr3:150460089G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.814C>T	chr3.hg19:g.150460089G>A	ENSP00000322457:p.Arg272Trp	0						p.R272W	NM_005067.5	NP_005058.3	1	2	3	1.998468	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)	2	1341	-			O43270	Missense_Mutation	SNP	ENST00000312960.3	1	1	hg19	c.814C>T	CCDS3152.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039982	0.75732	.	.	ENSG00000181788	ENST00000312960	T	0.27256	1.68	5.81	3.95	0.45737	5.81	3.95	0.45737	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.93939	3.475	0.49213	D	0.999767	D	0.89917	1.0	D	0.97110	1.0	T	0.71374	-0.4612	10	0.72032	D	0.01	.	14.2055	0.65732	0.0:0.0:0.4393:0.5607	.	272	O43255	SIAH2_HUMAN	W	272	ENSP00000322457:R272W	ENSP00000322457:R272W	R	-	1	2	2	SIAH2	151942779	151942779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.206000	0.51098	0.726000	0.32339	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_005067			52	51		255	253	1		1	1		0	0	69	0		1	1	0	39	0	162	0	52	255
SIAH2	6478	broad.mit.edu	37	3	150460414	150460414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	163	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527																																						ENST00000312960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(487-489)taC>taT		siah E3 ubiquitin protein ligase 2							119.0	102.0	108.0					3																	150460414		2203	4300	6503	SO:0001819	synonymous_variant	6478	0	0					g.chr3:150460414G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.489C>T	chr3.hg19:g.150460414G>A		0						p.Y163Y	NM_005067.5	NP_005058.3	1	2	3	1.998468	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)	2	1016	-			O43270	Silent	SNP	ENST00000312960.3	1	1	hg19	c.489C>T	CCDS3152.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_005067			67	65		278	275	1		1	1		0	0	74	0		1	1	0	41	0	102	0	67	278
NR2C2	7182	broad.mit.edu	37	3	15070094	15070094	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000406272.2_Splice_Site_p.A267D			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	267					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|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)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423																																						ENST00000425241.1	1.000000	0.400000	1	5.900000e-01	0.840000	0.813852	0.840000	1.000000																										0				16						c.(799-801)gCt>gAt		nuclear receptor subfamily 2, group C, member 2							65.0	60.0	62.0					3																	15070094		2203	4300	6503	SO:0001630	splice_region_variant	7182	0	0					g.chr3:15070094C>A	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.799-1C>A	chr3.hg19:g.15070094C>A		0					NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000406272.2_Splice_Site_p.A267D	p.A267D			1	2	3	1.998468	P49116	NR2C2_HUMAN		8	1162	+			A8K3H5|B6ZGT8|P55092	Splice_Site	SNP	ENST00000425241.1	1	0	hg19	c.800C>A		0	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783963	0.49891	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.81	5.81	0.92471	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.095622	0.85682	D	0.000000	D	0.89663	0.6780	L	0.27053	0.805	0.37836	D	0.928884	B;P	0.40476	0.004;0.718	B;B	0.39299	0.005;0.296	D	0.89087	0.3480	10	0.28530	T	0.3	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	267;286	P49116;F2YGU2	NR2C2_HUMAN;.	D	267;286;267;267	ENSP00000388387:A267D;ENSP00000320447:A286D;ENSP00000376814:A267D;ENSP00000384463:A267D	ENSP00000320447:A286D	A	+	2	0	0	NR2C2	15045098	15045098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.746000	0.94184	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-12.547630	1	0.170000	NM_003298	Missense_Mutation		8	8		109	108	0		1	1		0	0	34	0		9.898348e-01	9.068061e-01	0	10	0	50	0	8	109
CLRN1	7401	broad.mit.edu	37	3	150645882	150645882	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000295911.2_Silent_p.T104T|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	180					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368																																						ENST00000327047.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(538-540)acG>acA		clarin 1							71.0	75.0	73.0					3																	150645882		2203	4300	6503	SO:0001819	synonymous_variant	7401	3	121412	34				g.chr3:150645882C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.540G>A	chr3.hg19:g.150645882C>T		0					CLRN1_ENST00000328863.4_Silent_p.T193T|CLRN1_ENST00000295911.2_Silent_p.T104T|RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1-AS1_ENST00000476886.1_RNA	p.T180T	NM_174878.2	NP_777367.1	1	2	3	1.998468	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)	3	830	-			D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	1	1	hg19	c.540G>A	CCDS3153.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000				54	54		220	219	1		1			0	0	59	0		1	0	0	0	0	0	0	54	220
MED12L	116931	broad.mit.edu	37	3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P|MED12L_ENST00000309237.4_Missense_Mutation_p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	303						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CCGGCGTCTTTCCTTGCTGCT	0.557																																						ENST00000474524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(907-909)Tcc>Ccc		mediator complex subunit 12-like							169.0	168.0	168.0					3																	150877688		2203	4300	6503	SO:0001583	missense	116931	0	0					g.chr3:150877688T>C	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.907T>C	chr3.hg19:g.150877688T>C	ENSP00000417235:p.Ser303Pro	0					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P	p.S303P	NM_053002.4	NP_443728.3	1	2	3	1.998468	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	7	945	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	1	1	hg19	c.907T>C	CCDS33876.1	1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552794	0.65425	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	4.34	0.51931	5.41	4.34	0.51931	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.195681	0.44902	D	0.000420	T	0.36936	0.0985	L	0.52573	1.65	0.80722	D	1	B;B;B	0.30361	0.157;0.039;0.277	B;B;B	0.36534	0.14;0.086;0.227	T	0.26744	-1.0094	10	0.87932	D	0	-8.2762	11.1394	0.48394	0.0:0.0:0.4103:0.5897	.	303;303;303	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	P	303	ENSP00000403308:S303P;ENSP00000310760:S303P;ENSP00000417235:S303P	ENSP00000310760:S303P	S	+	1	0	0	MED12L	152360378	152360378	0.991000	0.36638	0.956000	0.39512	0.991000	0.79684	2.493000	0.45320	1.014000	0.39417	0.459000	0.35465	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	0		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_053002			203	195		853	841	1		1	0		0	0	193	0		1	9.746813e-02	0	0	0	3	0	203	853
MED12L	116931	broad.mit.edu	37	3	150881752	150881752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150881752G>T	ENST00000474524.1	+	8	1218	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C|MED12L_ENST00000309237.4_Missense_Mutation_p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	394						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CGCAAACCCAGGCTCACCCCT	0.502																																						ENST00000474524.1	1.000000	0.150000	4.700000e-01	2.300000e-01	0.330000	0.376135	0.330000	0.310000																										0				128						c.(1180-1182)Ggc>Tgc		mediator complex subunit 12-like							62.0	59.0	60.0					3																	150881752		2203	4300	6503	SO:0001583	missense	116931	0	0					g.chr3:150881752G>T	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.1180G>T	chr3.hg19:g.150881752G>T	ENSP00000417235:p.Gly394Cys	0					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C	p.G394C	NM_053002.4	NP_443728.3	1	2	3	1.998468	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	8	1218	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	0	1	hg19	c.1180G>T	CCDS33876.1	0	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698430	0.88830	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.62941	-0.01;-0.01;-0.01	5.02	5.02	0.67125	5.02	5.02	0.67125	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.87180	2.865	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	0.86013	0.1502	10	0.87932	D	0	-15.4266	17.9376	0.89017	0.0:0.0:1.0:0.0	.	394;394;394	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	C	394	ENSP00000403308:G394C;ENSP00000310760:G394C;ENSP00000417235:G394C	ENSP00000310760:G394C	G	+	1	0	0	MED12L	152364442	152364442	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.950000	0.93019	2.317000	0.78254	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-9.360107	1	0.170000	NM_053002			9	9		333	325	0		1	0		0	0	60	0		9.937304e-01	0	0	0	0	1	0	9	333
MED12L	116931	broad.mit.edu	37	3	150903146	150903146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_ENST00000273432.4_Silent_p.T368T|MED12L_ENST00000422248.2_Silent_p.T508T|MED12L_ENST00000309237.4_Silent_p.T508T|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CTGTGGTGACGCTGTTATGTG	0.537																																						ENST00000474524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(1522-1524)acG>acA		mediator complex subunit 12-like							131.0	107.0	115.0					3																	150903146		2203	4300	6503	SO:0001819	synonymous_variant	116931	0	0					g.chr3:150903146G>A	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.1524G>A	chr3.hg19:g.150903146G>A		0					RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Silent_p.T368T|MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000422248.2_Silent_p.T508T	p.T508T	NM_053002.4	NP_443728.3	1	2	3	1.998468	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	11	1562	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	1	1	hg19	c.1524G>A	CCDS33876.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.515782	1	0.170000	NM_053002			68	66		287	278	1		1	0		0	0	68	0		1	0	0	1	0	0	0	68	287
GPR171	29909	broad.mit.edu	37	3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150					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)			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)			GGGAATCATCATATTTGGCAC	0.378																																						ENST00000309180.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(448-450)aTg>aGg		G protein-coupled receptor 171							63.0	66.0	65.0					3																	150916725		2203	4300	6503	SO:0001583	missense	29909	0	0					g.chr3:150916725A>C	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.449T>G	chr3.hg19:g.150916725A>C	ENSP00000308479:p.Met150Arg	0					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.M150R	NM_013308.3	NP_037440.3	1	2	3	1.998468	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	3	679	-			D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	1	1	hg19	c.449T>G	CCDS3155.1	1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886297	0.72410	.	.	ENSG00000174946	ENST00000309180	T	0.37584	1.19	5.55	5.55	0.83447	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.64170	1.965	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.61520	-0.7046	10	0.72032	D	0.01	-34.7026	15.71	0.77620	1.0:0.0:0.0:0.0	.	150	O14626	GP171_HUMAN	R	150	ENSP00000308479:M150R	ENSP00000308479:M150R	M	-	2	0	0	GPR171	152399415	152399415	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	5.406000	0.66357	2.105000	0.64084	0.533000	0.62120	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_013308			82	81		285	284	1		1	0		0	0	75	0		1	9.173105e-01	0	0	0	17	0	82	285
P2RY14	9934	broad.mit.edu	37	3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T	rs575550811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	233					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)			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)			GAATATGTTGCGGCTAGATTT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20086	0.0		0.0	False		,,,				2504	0.001					ENST00000309170.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(697-699)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 14							85.0	88.0	87.0					3																	150931407		2203	4300	6503	SO:0001583	missense	9934	1	121412	34				g.chr3:150931407C>T	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.698G>A	chr3.hg19:g.150931407C>T	ENSP00000308361:p.Arg233His	0					P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	1	2	3	1.998468	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	3	1010	-			Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	1	1	hg19	c.698G>A	CCDS3156.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263257	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.40225	1.04;1.04	5.9	5.9	0.94986	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69557	0.3124	M	0.85197	2.74	0.40271	D	0.978282	D	0.89917	1.0	D	0.79108	0.992	T	0.67317	-0.5701	10	0.30854	T	0.27	-24.5079	20.2789	0.98501	0.0:1.0:0.0:0.0	.	233	Q15391	P2Y14_HUMAN	H	233	ENSP00000308361:R233H;ENSP00000408733:R233H	ENSP00000308361:R233H	R	-	2	0	0	P2RY14	152414097	152414097	0.958000	0.32768	1.000000	0.80357	0.496000	0.33645	3.959000	0.56744	2.788000	0.95919	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-3.515586	1	0.170000	NM_014879			109	108		439	425	1		1	0		0	0	102	0		1	3.428651e-01	0	0	0	6	0	109	439
P2RY14	9934	broad.mit.edu	37	3	150931995	150931995	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931995A>G	ENST00000309170.3	-	3	422	c.110T>C	c.(109-111)aTc>aCc	p.I37T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	37					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)			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)			ATTGAGTAGGATTCCTGCAAT	0.443																																						ENST00000309170.3	1.000000	0.160000	3.900000e-01	2.100000e-01	0.290000	0.336640	0.290000	0.280000																										0				20						c.(109-111)aTc>aCc		purinergic receptor P2Y, G-protein coupled, 14							181.0	168.0	172.0					3																	150931995		2203	4300	6503	SO:0001583	missense	9934	0	0					g.chr3:150931995A>G	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.110T>C	chr3.hg19:g.150931995A>G	ENSP00000308361:p.Ile37Thr	0					P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	1	2	3	1.998468	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	3	422	-			Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	0	1	hg19	c.110T>C	CCDS3156.1	0	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274407	0.23307	.	.	ENSG00000174944	ENST00000309170;ENST00000424796;ENST00000494668	T;T;T	0.40476	1.03;1.03;1.03	5.71	4.55	0.56014	5.71	4.55	0.56014	.	0.564366	0.16438	N	0.214433	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.21415	-1.0246	10	0.62326	D	0.03	-9.9284	11.4728	0.50280	0.9299:0.0:0.0701:0.0	.	37	Q15391	P2Y14_HUMAN	T	37	ENSP00000308361:I37T;ENSP00000408733:I37T;ENSP00000418065:I37T	ENSP00000308361:I37T	I	-	2	0	0	P2RY14	152414685	152414685	0.090000	0.21635	0.113000	0.21522	0.470000	0.32858	3.794000	0.55492	0.993000	0.38866	0.477000	0.44152	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	0	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-3.126976	1	0.170000	NM_014879			14	13		576	563	0		1	0		0	0	117	0		9.997126e-01	9.467572e-03	0	0	0	6	0	14	576
GPR87	53836	broad.mit.edu	37	3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	91					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378																																						ENST00000260843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(271-273)aCg>aTg		G protein-coupled receptor 87							139.0	138.0	138.0					3																	151012762		2203	4300	6503	SO:0001583	missense	53836	0	0					g.chr3:151012762G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.272C>T	chr3.hg19:g.151012762G>A	ENSP00000260843:p.Thr91Met	0					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.T91M	NM_023915.3	NP_076404.3	1	2	3	1.998468	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	3	736	-			Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	1	1	hg19	c.272C>T	CCDS3157.1	1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257065	0.39896	.	.	ENSG00000138271	ENST00000260843	T	0.34072	1.38	5.31	5.31	0.75309	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.138939	0.49916	D	0.000124	T	0.49150	0.1540	L	0.39020	1.185	0.44373	D	0.997276	D	0.76494	0.999	D	0.68943	0.961	T	0.48768	-0.9006	10	0.87932	D	0	-9.5583	14.5601	0.68130	0.0726:0.0:0.9274:0.0	.	91	Q9BY21	GPR87_HUMAN	M	91	ENSP00000260843:T91M	ENSP00000260843:T91M	T	-	2	0	0	GPR87	152495452	152495452	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	6.273000	0.72581	2.632000	0.89209	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				67	66		292	291	1		1			0	0	67	0		1	0	0	0	0	0	0	67	292
P2RY13	53829	broad.mit.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358																																						ENST00000325602.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.I195M(1)	ovary(1)	14						c.(646-648)atT>atG		purinergic receptor P2Y, G-protein coupled, 13							62.0	67.0	65.0					3																	151046196		2203	4300	6503	SO:0001583	missense	53829	0	0					g.chr3:151046196A>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.648T>G	chr3.hg19:g.151046196A>C	ENSP00000320376:p.Ile216Met	0					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.I216M	NM_176894.2	NP_795713.2	1	2	3	1.998468	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)	2	667	-			B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	1	1	hg19	c.648T>G	CCDS3158.2	1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	3	P2RY13	152528886	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_023914			55	52		244	241	1		1	0		0	0	63	0		1	5.770508e-01	0	0	0	10	0	55	244
P2RY13	53829	broad.mit.edu	37	3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	112					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453																																						ENST00000325602.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(334-336)aGa>aAa		purinergic receptor P2Y, G-protein coupled, 13							82.0	81.0	82.0					3																	151046509		2203	4300	6503	SO:0001583	missense	53829	0	0					g.chr3:151046509C>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.335G>A	chr3.hg19:g.151046509C>T	ENSP00000320376:p.Arg112Lys	0					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.R112K	NM_176894.2	NP_795713.2	1	2	3	1.998468	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)	2	354	-			B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	1	1	hg19	c.335G>A	CCDS3158.2	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608147	0.28623	.	.	ENSG00000181631	ENST00000325602	T	0.36520	1.25	5.77	5.77	0.91146	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.105580	0.56097	D	0.000035	T	0.20333	0.0489	N	0.12961	0.28	0.09310	N	1	P	0.37083	0.581	B	0.41946	0.371	T	0.31696	-0.9934	10	0.05620	T	0.96	-16.0216	7.5497	0.27788	0.0:0.8056:0.0:0.1944	.	112	Q9BPV8	P2Y13_HUMAN	K	112	ENSP00000320376:R112K	ENSP00000320376:R112K	R	-	2	0	0	P2RY13	152529199	152529199	0.123000	0.22298	0.094000	0.20943	0.688000	0.40055	2.268000	0.43338	2.720000	0.93068	0.557000	0.71058	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_023914			79	78		373	368	1		1	0		0	0	88	0		1	3.568583e-01	0	0	0	7	0	79	373
MED12L	116931	broad.mit.edu	37	3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1504						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			GAGAGAAGAACGATACCAAGA	0.348																																						ENST00000474524.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				128						c.(4510-4512)Cga>Tga		mediator complex subunit 12-like							60.0	60.0	60.0					3																	151100468		2203	4300	6503	SO:0001587	stop_gained	116931	0	0					g.chr3:151100468C>T	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.4510C>T	chr3.hg19:g.151100468C>T	ENSP00000417235:p.Arg1504*	0					MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*|P2RY12_ENST00000302632.3_Intron	p.R1504*	NM_053002.4	NP_443728.3	1	2	3	1.998468	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	31	4548	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	0	1	hg19	c.4510C>T	CCDS33876.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.838506	0.99609	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	4.05	0.47172	5.9	4.05	0.47172	.	0.063424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7263	13.6449	0.62275	0.4138:0.5862:0.0:0.0	.	.	.	.	X	1504;1364	.	ENSP00000273432:R1364X	R	+	1	2	2	MED12L	152583158	152583158	1.000000	0.71417	0.692000	0.30179	0.958000	0.62258	4.564000	0.60830	0.761000	0.33130	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-18.627570	1	0.170000	NM_053002			32	32		153	151	1		1			0	0	42	0		1	0	0	0	0	0	0	32	153
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CAGCAGGCCTCGCCGTACCTG	0.517																																						ENST00000474524.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				128						c.(6001-6003)tCg>tTg		mediator complex subunit 12-like							71.0	72.0	72.0					3																	151129262		2203	4300	6503	SO:0001583	missense	116931	57	121412	48				g.chr3:151129262C>T	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.6002C>T	chr3.hg19:g.151129262C>T	ENSP00000417235:p.Ser2001Leu	0					MED12L_ENST00000273432.4_Intron	p.S2001L	NM_053002.4	NP_443728.3	1	2	3	1.998468	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	39	6040	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	1	1	hg19	c.6002C>T	CCDS33876.1	1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	0	MED12L	152611952	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.222095	1	0.170000	NM_053002			68	66		413	402	1		1	0		0	0	94	0		1	2.066116e-02	0	0	0	2	0	68	413
IGSF10	285313	broad.mit.edu	37	3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	MED12L_ENST00000474524.1_3'UTR|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	2611	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			ATCACTACCAAGTGGGTTCTT	0.383																																						ENST00000282466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(7831-7833)cTt>cAt		immunoglobulin superfamily, member 10							121.0	121.0	121.0					3																	151154517		2203	4300	6503	SO:0001583	missense	285313	0	0					g.chr3:151154517A>T	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.7832T>A	chr3.hg19:g.151154517A>T	ENSP00000282466:p.Leu2611His	0					MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	p.L2611H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	1.998468	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	6	7831	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.7832T>A	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780214	0.70222	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	5.29	5.29	0.74685	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000993	T	0.70107	0.3186	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.969	T	0.71331	-0.4625	10	0.38643	T	0.18	.	15.5146	0.75812	1.0:0.0:0.0:0.0	.	2611;638	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	H	2611	ENSP00000282466:L2611H	ENSP00000282466:L2611H	L	-	2	0	0	IGSF10	152637207	152637207	1.000000	0.71417	0.075000	0.20258	0.984000	0.73092	8.851000	0.92205	2.123000	0.65237	0.533000	0.62120	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	0	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_178822			122	120		593	585	1		1	0		0	0	128	0		1	0	0	1	0	0	0	122	593
IGSF10	285313	broad.mit.edu	37	3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	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	2196	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			GGTCAAAGACCCATTGGCATG	0.438																																						ENST00000282466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(6586-6588)gGg>gAg		immunoglobulin superfamily, member 10							111.0	108.0	109.0					3																	151155762		2203	4300	6503	SO:0001583	missense	285313	1	121412	29				g.chr3:151155762C>T	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.6587G>A	chr3.hg19:g.151155762C>T	ENSP00000282466:p.Gly2196Glu	0					IGSF10_ENST00000495443.1_5'UTR	p.G2196E	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	1.998468	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	6	6586	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.6587G>A	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124812	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.35421	1.31	5.77	4.89	0.63831	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133232	0.33980	N	0.004362	T	0.65491	0.2696	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	T	0.73014	-0.4116	10	0.72032	D	0.01	.	16.9292	0.86186	0.0:0.8721:0.1279:0.0	.	2196;223	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	E	2196	ENSP00000282466:G2196E	ENSP00000282466:G2196E	G	-	2	0	0	IGSF10	152638452	152638452	1.000000	0.71417	0.963000	0.40424	0.335000	0.28730	5.731000	0.68554	1.428000	0.47296	0.591000	0.81541	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-2.869925	1	0.170000	NM_178822			80	78		387	383	1		1			0	0	95	0		1	0	0	0	0	0	0	80	387
IGSF10	285313	broad.mit.edu	37	3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		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	1554					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			GTTGTTAGTGCTGGCATGGGA	0.413																																						ENST00000282466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(4660-4662)Gca>Aca		immunoglobulin superfamily, member 10							177.0	178.0	177.0					3																	151163109		2203	4300	6503	SO:0001583	missense	285313	0	0					g.chr3:151163109C>T	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.4660G>A	chr3.hg19:g.151163109C>T	ENSP00000282466:p.Ala1554Thr	0						p.A1554T	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	1.998468	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	4	4659	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.4660G>A	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725953	0.15439	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68624	-0.34	5.72	1.66	0.24008	5.72	1.66	0.24008	.	0.321356	0.21865	N	0.067969	T	0.44138	0.1279	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.24006	0.05	T	0.16070	-1.0415	10	0.07990	T	0.79	.	1.8719	0.03210	0.166:0.4979:0.1608:0.1753	.	1554	Q6WRI0	IGS10_HUMAN	T	1554;181	ENSP00000282466:A1554T	ENSP00000282466:A1554T	A	-	1	0	0	IGSF10	152645799	152645799	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.788000	0.04614	0.333000	0.23563	0.644000	0.83932	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_178822			154	148		748	734	1		1	0		0	0	162	0		1	7.842338e-02	0	0	0	3	0	154	748
IGSF10	285313	broad.mit.edu	37	3	151165609	151165609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		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	720					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			ATTCCCGATAGTTGTGCCTCT	0.498																																						ENST00000282466.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				116						c.(2158-2160)aaC>aaT		immunoglobulin superfamily, member 10							87.0	71.0	76.0					3																	151165609		2203	4300	6503	SO:0001819	synonymous_variant	285313	0	0					g.chr3:151165609G>A	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.2160C>T	chr3.hg19:g.151165609G>A		0						p.N720N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	1.998468	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	4	2159	-			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	1	1	hg19	c.2160C>T	CCDS3160.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_178822			40	40		235	234	0		1			0	0	50	0		1	0	0	0	0	0	0	40	235
ZFYVE20	64145	broad.mit.edu	37	3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K|ZFYVE20_ENST00000449964.2_5'Flank	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	367	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)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478																																						ENST00000253699.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1099-1101)Cag>Aag		zinc finger, FYVE domain containing 20							160.0	149.0	152.0					3																	15118571		2203	4300	6503	SO:0001583	missense	64145	1	121412	27				g.chr3:15118571G>T	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.1099C>A	chr3.hg19:g.15118571G>T	ENSP00000253699:p.Gln367Lys	0					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K|ZFYVE20_ENST00000449964.2_5'Flank	p.Q367K	NM_022340.2	NP_071735.2	1	2	3	1.998468	Q9H1K0	RBNS5_HUMAN		12	1712	-			B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	1	1	hg19	c.1099C>A	CCDS2623.1	1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733087	0.69189	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.36672	1.1	0.80722	D	1	P	0.44044	0.825	P	0.45856	0.495	T	0.48490	-0.9031	10	0.41790	T	0.15	-27.1303	20.2704	0.98474	0.0:0.0:1.0:0.0	.	367	Q9H1K0	RBNS5_HUMAN	K	367;367;69	ENSP00000253699:Q367K;ENSP00000422551:Q367K	ENSP00000253699:Q367K	Q	-	1	0	0	ZFYVE20	15093575	15093575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.617000	0.98361	2.793000	0.96121	0.591000	0.81541	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	0	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000	NM_022340			60	57		264	261	1		1	1		0	0	90	0		1	9.976898e-01	0	7	0	36	0	60	264
ZFYVE20	64145	broad.mit.edu	37	3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	118	Necessary for the correct targeting to endosomes.				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)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358																																						ENST00000253699.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(352-354)gTt>gCt		zinc finger, FYVE domain containing 20							178.0	195.0	189.0					3																	15127405		2203	4300	6503	SO:0001583	missense	64145	0	0					g.chr3:15127405A>G	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.353T>C	chr3.hg19:g.15127405A>G	ENSP00000253699:p.Val118Ala	0					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A	p.V118A	NM_022340.2	NP_071735.2	1	2	3	1.998468	Q9H1K0	RBNS5_HUMAN		6	966	-			B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	1	1	hg19	c.353T>C	CCDS2623.1	1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411677	0.62399	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.70516	0.79;0.79;-0.49	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	N	0.17901	0.54	0.80722	D	1	D;P	0.76494	0.999;0.911	D;P	0.76071	0.987;0.532	T	0.70117	-0.4960	10	0.20046	T	0.44	-15.8092	16.2526	0.82494	1.0:0.0:0.0:0.0	.	118;118	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	118	ENSP00000253699:V118A;ENSP00000422551:V118A;ENSP00000391039:V118A	ENSP00000253699:V118A	V	-	2	0	0	ZFYVE20	15102409	15102409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.241000	0.73720	0.482000	0.46254	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	1	0	1		2	2	2	0		0	0	232		232	229	1	2.060000	-20.000000	1	0.170000	NM_022340			179	176		910	902	1		1	1		0	0	232	0		1	9.845252e-01	0	10	0	25	0	179	910
IGSF10	285313	broad.mit.edu	37	3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		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	468	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			TTTGTGTTTCACTGGCCTCAT	0.463																																						ENST00000282466.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(1402-1404)gTg>gCg		immunoglobulin superfamily, member 10							228.0	206.0	214.0					3																	151166366		2203	4300	6503	SO:0001583	missense	285313	3	121412	37				g.chr3:151166366A>G	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.1403T>C	chr3.hg19:g.151166366A>G	ENSP00000282466:p.Val468Ala	0						p.V468A	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	1.998468	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	4	1402	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.1403T>C	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019859	0.07634	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	5.08	-5.93	0.02254	5.08	-5.93	0.02254	Immunoglobulin-like (1);	0.951725	0.08579	N	0.924933	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38394	-0.9663	10	0.05620	T	0.96	.	3.7276	0.08481	0.2819:0.4251:0.0666:0.2264	.	468	Q6WRI0	IGS10_HUMAN	A	468	ENSP00000282466:V468A	ENSP00000282466:V468A	V	-	2	0	0	IGSF10	152649056	152649056	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.406000	0.07187	-0.821000	0.04312	0.454000	0.30748	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000	NM_178822			116	116		527	522	1		1			0	0	137	0		1	0	0	0	0	0	0	116	527
AADACL2	344752	broad.mit.edu	37	3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	21						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)			TCATTTTTACACACCCATGCC	0.383																																						ENST00000356517.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				24						c.(61-63)Aca>Gca		arylacetamide deacetylase-like 2							135.0	131.0	133.0					3																	151451884		2203	4300	6503	SO:0001583	missense	344752	0	0					g.chr3:151451884A>G	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.61A>G	chr3.hg19:g.151451884A>G	ENSP00000348911:p.Thr21Ala	0						p.T21A	NM_207365.3	NP_997248.2	1	2	3	1.998468	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	1	170	+			Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	1	1	hg19	c.61A>G	CCDS3161.2	1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057794	0.36277	.	.	ENSG00000197953	ENST00000356517	T	0.04502	3.61	5.17	0.0266	0.14151	5.17	0.0266	0.14151	.	.	.	.	.	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45116	-0.9283	9	0.25751	T	0.34	-1.3311	3.274	0.06892	0.553:0.0:0.2783:0.1687	.	21	Q6P093	ADCL2_HUMAN	A	21	ENSP00000348911:T21A	ENSP00000348911:T21A	T	+	1	0	0	AADACL2	152934574	152934574	0.033000	0.19621	0.002000	0.10522	0.151000	0.21798	0.389000	0.20751	0.442000	0.26555	0.533000	0.62120	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-17.018490	1	0.170000	NM_207365			32	32		180	177	1		1			0	0	37	0		1	0	0	0	0	0	0	32	180
AADACL2	344752	broad.mit.edu	37	3	151458616	151458616	+	Silent	SNP	G	G	A	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	107						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)			GGCGAGCTGTGATATATTTTC	0.353																																						ENST00000356517.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(319-321)gtG>gtA		arylacetamide deacetylase-like 2							136.0	143.0	141.0					3																	151458616		2203	4300	6503	SO:0001819	synonymous_variant	344752	0	0					g.chr3:151458616G>A	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.321G>A	chr3.hg19:g.151458616G>A		0						p.V107V	NM_207365.3	NP_997248.2	1	2	3	1.998468	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	2	430	+			Q5HYJ4	Silent	SNP	ENST00000356517.3	1	1	hg19	c.321G>A	CCDS3161.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.424055	1	0.170000	NM_207365			77	74		342	338	1		1			0	0	80	0		1	0	0	0	0	0	0	77	342
AADACL2	344752	broad.mit.edu	37	3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	367						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)			TGAACATATTGAGGATGGAAT	0.343																																						ENST00000356517.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1099-1101)Gag>Aag		arylacetamide deacetylase-like 2							97.0	95.0	96.0					3																	151475275		2203	4299	6502	SO:0001583	missense	344752	2	121408	31				g.chr3:151475275G>A	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.1099G>A	chr3.hg19:g.151475275G>A	ENSP00000348911:p.Glu367Lys	0					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.E367K	NM_207365.3	NP_997248.2	1	2	3	1.998468	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	5	1208	+			Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	1	1	hg19	c.1099G>A	CCDS3161.2	1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389903	0.61956	.	.	ENSG00000197953	ENST00000356517	T	0.60040	0.22	5.15	5.15	0.70609	5.15	5.15	0.70609	Alpha/beta hydrolase fold-3 (1);	0.443069	0.25958	N	0.027210	T	0.75155	0.3811	M	0.77486	2.375	0.28532	N	0.912553	D	0.60575	0.988	P	0.61722	0.893	T	0.71807	-0.4481	10	0.62326	D	0.03	-38.0713	18.4096	0.90546	0.0:0.0:1.0:0.0	.	367	Q6P093	ADCL2_HUMAN	K	367	ENSP00000348911:E367K	ENSP00000348911:E367K	E	+	1	0	0	AADACL2	152957965	152957965	0.938000	0.31826	0.362000	0.25862	0.547000	0.35210	1.698000	0.37794	2.683000	0.91414	0.591000	0.81541	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-2.857223	1	0.170000	NM_207365			70	70		355	352	1		1			0	0	83	0		1	0	0	0	0	0	0	70	355
SUCNR1	56670	broad.mit.edu	37	3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		21838	0.0		0.0	False		,,,				2504	0.0					ENST00000362032.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(385-387)cGa>cAa		succinate receptor 1	Succinic acid(DB00139)	G	GLN/ARG	42,4364	45.3+/-79.5	0,42,2161	119.0	117.0	118.0		386	5.2	1.0	3	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SUCNR1	NM_033050.4	43	0,44,6459	AA,AG,GG		0.0233,0.9532,0.3383	probably-damaging	129/335	151598717	44,12962	2203	4300	6503	SO:0001583	missense	56670	114	121412	53				g.chr3:151598717G>A	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.386G>A	chr3.hg19:g.151598717G>A	ENSP00000355156:p.Arg129Gln	0					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.R129Q	NM_033050.4	NP_149039.2	1	2	3	1.998468	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	3	491	+			A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	1	1	hg19	c.386G>A	CCDS3162.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.1	4.494259	0.85069	0.009532	2.33E-4	ENSG00000198829	ENST00000362032	T	0.40756	1.02	5.17	5.17	0.71159	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.077402	0.51477	U	0.000095	T	0.49643	0.1569	L	0.56769	1.78	0.36495	D	0.868676	D	0.69078	0.997	P	0.58577	0.841	T	0.60296	-0.7291	10	0.42905	T	0.14	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	129	Q9BXA5	SUCR1_HUMAN	Q	129	ENSP00000355156:R129Q	ENSP00000355156:R129Q	R	+	2	0	0	SUCNR1	153081407	153081407	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.085000	0.57657	2.586000	0.87340	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-2.822135	1	0.170000	NM_033050			111	110		411	405	1		1	0		0	0	86	0		1	0	0	0	0	1	0	111	411
MBNL1	4154	broad.mit.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000463374.1	+	3	905	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473																																						ENST00000463374.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(394-396)Gcc>Acc		muscleblind-like splicing regulator 1							142.0	156.0	152.0					3																	152150554		2203	4300	6503	SO:0001583	missense	4154	1	121412	34				g.chr3:152150554G>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.394G>A	chr3.hg19:g.152150554G>A	ENSP00000418108:p.Ala132Thr	0					MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000485910.1_Intron	p.A132T	NM_207293.1	NP_997176.1	1	2	3	1.998468	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	3	905	+			E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	1	1	hg19	c.394G>A	CCDS3165.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963689	0.92791	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.46774	D	0.999191	D;P;P;D;B;D;D	0.76494	0.999;0.472;0.556;0.995;0.41;0.994;0.99	P;B;B;P;B;P;P	0.62740	0.906;0.072;0.203;0.838;0.217;0.701;0.819	T	0.63060	-0.6721	10	0.38643	T	0.18	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	T	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132T;ENSP00000347637:A132T;ENSP00000417741:A40T;ENSP00000419347:A75T;ENSP00000319429:A132T;ENSP00000420680:A40T;ENSP00000420327:A132T;ENSP00000319374:A132T;ENSP00000350064:A132T;ENSP00000418108:A132T;ENSP00000420103:A132T;ENSP00000418876:A132T;ENSP00000418508:A35T	ENSP00000282486:A132T	A	+	1	0	0	MBNL1	153633244	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	1	0	1		2	2	2	0		0	0	198		198	197	1	2.060000	-20.000000	1	0.170000	NM_021038			258	257		874	855	1		1	1		0	0	198	0		1	1	0	21	0	206	0	258	874
P2RY1	5028	broad.mit.edu	37	3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	266					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)			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)			AATCATTGTACTGACTGTTTT	0.423																																						ENST00000305097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(796-798)Ctg>Atg		purinergic receptor P2Y, G-protein coupled, 1							114.0	112.0	112.0					3																	152554367		2203	4300	6503	SO:0001583	missense	5028	0	0					g.chr3:152554367C>A	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.796C>A	chr3.hg19:g.152554367C>A	ENSP00000304767:p.Leu266Met	0					RP11-38P22.2_ENST00000460407.1_lincRNA	p.L266M	NM_002563.3	NP_002554.1	1	2	3	1.998468	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)	1	1632	+				Missense_Mutation	SNP	ENST00000305097.3	1	1	hg19	c.796C>A	CCDS3169.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967582	0.34754	.	.	ENSG00000169860	ENST00000305097	T	0.37915	1.17	5.58	3.8	0.43715	5.58	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.48295	0.1492	L	0.49778	1.585	0.50039	D	0.999849	D	0.76494	0.999	D	0.91635	0.999	T	0.35525	-0.9785	10	0.37606	T	0.19	.	7.3074	0.26455	0.0:0.6641:0.0:0.3359	.	266	P47900	P2RY1_HUMAN	M	266	ENSP00000304767:L266M	ENSP00000304767:L266M	L	+	1	2	2	P2RY1	154037057	154037057	1.000000	0.71417	0.378000	0.26068	0.476000	0.33039	3.828000	0.55753	0.725000	0.32318	-0.253000	0.11424	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	1	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_002563			77	77		345	341	1		1	1		0	0	85	0		1	9.146604e-01	0	6	0	15	0	77	345
P2RY1	5028	broad.mit.edu	37	3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	294					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)			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)			TCAGACCCCAGCAATGTGTGC	0.458																																						ENST00000305097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(880-882)Gca>Tca		purinergic receptor P2Y, G-protein coupled, 1							110.0	111.0	111.0					3																	152554451		2203	4300	6503	SO:0001583	missense	5028	0	0					g.chr3:152554451G>T	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.880G>T	chr3.hg19:g.152554451G>T	ENSP00000304767:p.Ala294Ser	0					RP11-38P22.2_ENST00000460407.1_lincRNA	p.A294S	NM_002563.3	NP_002554.1	1	2	3	1.998468	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)	1	1716	+				Missense_Mutation	SNP	ENST00000305097.3	1	1	hg19	c.880G>T	CCDS3169.1	1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000169860	ENST00000305097	T	0.66995	-0.24	5.58	4.71	0.59529	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.318404	0.32204	N	0.006426	T	0.40094	0.1103	N	0.04043	-0.29	0.22142	N	0.999337	B	0.12013	0.005	B	0.19391	0.025	T	0.19679	-1.0298	10	0.08381	T	0.77	.	10.687	0.45850	0.0729:0.1321:0.795:0.0	.	294	P47900	P2RY1_HUMAN	S	294	ENSP00000304767:A294S	ENSP00000304767:A294S	A	+	1	0	0	P2RY1	154037141	154037141	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.233000	0.65337	1.360000	0.45960	-0.251000	0.11542	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	1	0	0		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_002563			81	80		392	382	1		1	1		0	0	83	0		1	9.961799e-01	0	19	0	24	0	81	392
RAP2B	5912	broad.mit.edu	37	3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	138					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)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632																																						ENST00000323534.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				7						c.(412-414)tGg>tTg		RAP2B, member of RAS oncogene family							55.0	43.0	47.0					3																	152880895		2203	4300	6503	SO:0001583	missense	5912	0	0					g.chr3:152880895G>T		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.413G>T	chr3.hg19:g.152880895G>T	ENSP00000319096:p.Trp138Leu	0					RP11-529G21.2_ENST00000487827.1_RNA	p.W138L	NM_002886.2	NP_002877.2	1	2	3	1.998468	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)	1	867	+			P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	1	1	hg19	c.413G>T	CCDS3170.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359132	0.82353	.	.	ENSG00000181467	ENST00000323534	T	0.76839	-1.05	4.43	4.43	0.53597	4.43	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.80215	0.4582	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77338	-0.2625	10	0.24483	T	0.36	.	15.7938	0.78394	0.0:0.0:1.0:0.0	.	138	P61225	RAP2B_HUMAN	L	138	ENSP00000319096:W138L	ENSP00000319096:W138L	W	+	2	0	0	RAP2B	154363585	154363585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.294000	0.77228	0.563000	0.77884	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_002886			34	34		157	156	1		1	1		0	0	33	0		1	1	0	27	0	152	0	34	157
C3orf79	152118	broad.mit.edu	37	3	153220229	153220229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428																																						ENST00000446603.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(259-261)ggC>ggA		chromosome 3 open reading frame 79							108.0	105.0	106.0					3																	153220229		1857	4100	5957	SO:0001819	synonymous_variant	152118	0	0					g.chr3:153220229C>A	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.261C>A	chr3.hg19:g.153220229C>A		0					RP11-23D24.2_ENST00000493214.2_RNA	p.G87G	NM_001101337.1	NP_001094807.1	1	2	3	1.998468	P0CE67	CC079_HUMAN		3	323	+				Silent	SNP	ENST00000446603.2	1	1	hg19	c.261C>A	CCDS46937.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_001101337			64	63		318	310	1		1			0	0	70	0		1	0	0	0	0	0	0	64	318
DHX36	170506	broad.mit.edu	37	3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	886					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)			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)			TGATAGATAAGCCAGTTGTAG	0.333																																						ENST00000496811.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				35						c.(2656-2658)Ctt>Ttt		DEAH (Asp-Glu-Ala-His) box polypeptide 36							90.0	89.0	89.0					3																	153995419		2203	4300	6503	SO:0001583	missense	170506	0	0					g.chr3:153995419G>A	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.2656C>T	chr3.hg19:g.153995419G>A	ENSP00000417078:p.Leu886Phe	0					DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F	p.L886F	NM_020865.2	NP_065916.2	1	2	3	1.998468	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)	23	2736	-			B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	1	1	hg19	c.2656C>T	CCDS3171.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830917	0.91036	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.05199	3.67;3.6;3.49;3.48	5.91	5.03	0.67393	5.91	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.72624	2.21	0.58432	D	0.999997	D;D;D	0.56746	0.972;0.972;0.977	P;P;P	0.61722	0.785;0.828;0.893	T	0.00036	-1.2257	10	0.48119	T	0.1	.	15.4806	0.75524	0.0674:0.0:0.9326:0.0	.	872;857;886	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	886;857;872;872	ENSP00000417078:L886F;ENSP00000309296:L857F;ENSP00000444247:L872F;ENSP00000330113:L872F	ENSP00000309296:L857F	L	-	1	0	0	DHX36	155478113	155478113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.794000	0.96219	0.655000	0.94253	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_020865			24	23		130	129	1		1	1		0	0	43	0		9.999998e-01	9.999997e-01	0	21	0	127	0	24	130
DHX36	170506	broad.mit.edu	37	3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	695					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)			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)			AACGGGTAATCGTGCCAAGTG	0.403																																						ENST00000496811.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2083-2085)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							126.0	121.0	122.0					3																	154002724		2203	4300	6503	SO:0001583	missense	170506	1	121412	28				g.chr3:154002724C>T	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.2084G>A	chr3.hg19:g.154002724C>T	ENSP00000417078:p.Arg695Gln	0					DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q	p.R695Q	NM_020865.2	NP_065916.2	1	2	3	1.998468	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)	18	2164	-			B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	1	1	hg19	c.2084G>A	CCDS3171.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715414|4.715414	0.89112|0.89112	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43662	.|0.608;0.608;0.814	.|B;B;B	.|0.41691	.|0.249;0.358;0.364	T|T	0.01648|0.01648	-1.1304|-1.1304	5|10	.|0.33141	.|T	.|0.24	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681;695;695	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	N|Q	142|695;695;681;681;609	.|ENSP00000417078:R695Q;ENSP00000309296:R695Q;ENSP00000444247:R681Q;ENSP00000330113:R681Q;ENSP00000419862:R609Q	.|ENSP00000309296:R695Q	D|R	-|-	1|2	0|0	0|0	DHX36|DHX36	155485418|155485418	155485418|155485418	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAT|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.126835	1	0.170000	NM_020865			79	77		369	357	1		1	1		0	0	63	0		1	1	0	39	0	100	0	79	369
GPR149	344758	broad.mit.edu	37	3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	695					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)			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)			CTGCCTGTGTGCTTCTACTGT	0.438																																						ENST00000389740.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2083-2085)gCa>gTa		G protein-coupled receptor 149							309.0	282.0	290.0					3																	154055600		1939	4150	6089	SO:0001583	missense	344758	0	0					g.chr3:154055600G>A	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.2084C>T	chr3.hg19:g.154055600G>A	ENSP00000374390:p.Ala695Val	0						p.A695V	NM_001038705.1	NP_001033794.1	1	2	3	1.998468	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)	4	2183	-				Missense_Mutation	SNP	ENST00000389740.2	1	1	hg19	c.2084C>T	CCDS43162.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387473	0.82902	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	9	0.87932	D	0	-17.2027	20.063	0.97692	0.0:0.0:1.0:0.0	.	695	Q86SP6	GP149_HUMAN	V	695	.	ENSP00000374390:A695V	A	-	2	0	0	GPR149	155538294	155538294	1.000000	0.71417	0.952000	0.39060	0.444000	0.32077	9.455000	0.97625	2.741000	0.93983	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	1	0	1		2	2	2	0		0	0	200		200	199	1	2.060000	-20.000000	1	0.170000	XM_293580			208	205		981	964	1		1			0	0	200	0		1	0	0	0	0	0	0	208	981
METTL6	131965	broad.mit.edu	37	3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000443029.1	-	3	583	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Intron|EAF1_ENST00000432764.2_5'Flank			Q8TCB7	METL6_HUMAN	methyltransferase like 6	115							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398																																						ENST00000443029.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(343-345)Gcc>Tcc		methyltransferase like 6							111.0	102.0	105.0					3																	15466479		1878	4104	5982	SO:0001583	missense	131965	0	0					g.chr3:15466479C>A	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.343G>T	chr3.hg19:g.15466479C>A	ENSP00000407613:p.Ala115Ser	0					METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000450816.2_Intron	p.A115S			1	2	3	1.998468	Q8TCB7	METL6_HUMAN		3	583	-			Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	1	1	hg19	c.343G>T	CCDS43056.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004692	0.74932	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	T;T;T	0.04758	3.56;3.56;3.56	5.74	5.74	0.90152	5.74	5.74	0.90152	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05241	-1.0897	10	0.87932	D	0	-14.8173	19.5124	0.95148	0.0:1.0:0.0:0.0	.	115;115	Q8TCB7-2;Q8TCB7	.;METL6_HUMAN	S	115;22;115	ENSP00000373300:A115S;ENSP00000412006:A22S;ENSP00000373299:A115S	ENSP00000373299:A115S	A	-	1	0	0	METTL6	15441483	15441483	1.000000	0.71417	0.999000	0.59377	0.260000	0.26232	7.723000	0.84788	2.707000	0.92482	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_152396			95	94		391	385	1		1	1		0	0	80	0		1	9.920895e-01	0	5	0	28	0	95	391
GPR149	344758	broad.mit.edu	37	3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	252					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)			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)			TCCTCTGGGGACAGGGAAACC	0.662																																						ENST00000389740.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(754-756)Tcc>Ccc		G protein-coupled receptor 149							33.0	37.0	36.0					3																	154146651		1873	4110	5983	SO:0001583	missense	344758	0	0					g.chr3:154146651A>G	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.754T>C	chr3.hg19:g.154146651A>G	ENSP00000374390:p.Ser252Pro	0						p.S252P	NM_001038705.1	NP_001033794.1	1	2	3	1.998468	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)	1	853	-				Missense_Mutation	SNP	ENST00000389740.2	1	1	hg19	c.754T>C	CCDS43162.1	1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543435	0.27563	.	.	ENSG00000174948	ENST00000389740	T	0.38560	1.13	4.57	1.88	0.25563	4.57	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.423870	0.28442	N	0.015327	T	0.25827	0.0629	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.0054	7.4261	0.27100	0.782:0.0:0.0811:0.1369	.	252	Q86SP6	GP149_HUMAN	P	252	ENSP00000374390:S252P	ENSP00000374390:S252P	S	-	1	0	0	GPR149	155629345	155629345	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	0.099000	0.15210	0.736000	0.32559	0.533000	0.62120	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000	XM_293580			70	69		305	303	1		1			0	0	47	0		1	0	0	0	0	0	0	70	305
MME	4311	broad.mit.edu	37	3	154832830	154832830	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	ENST00000460393.1	+	4	364	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000492661.1_Missense_Mutation_p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	82					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)			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)	GCCTTGTACAGACTTTTTCAA	0.433																																						ENST00000460393.1	1.000000	0.600000	9.900000e-01	7.100000e-01	0.830000	0.840236	0.830000	1.000000																										0				64						c.(244-246)Gac>Tac		membrane metallo-endopeptidase	Candoxatril(DB00616)|Liraglutide(DB06655)						125.0	119.0	121.0					3																	154832830		2203	4300	6503	SO:0001583	missense	4311	0	0					g.chr3:154832830G>T		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.244G>T	chr3.hg19:g.154832830G>T	ENSP00000418525:p.Asp82Tyr	0					MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y	p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	1	2	3	1.998468	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)	4	364	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	1	1	hg19	c.244G>T	CCDS3172.1	0	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735744	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.90676	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.71;-2.11	5.46	4.59	0.56863	5.46	4.59	0.56863	Peptidase M13 (1);	0.096412	0.64402	D	0.000001	D	0.95072	0.8404	M	0.86178	2.8	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.95214	0.8328	10	0.87932	D	0	-26.8909	11.3533	0.49600	0.1454:0.0:0.8546:0.0	.	82	P08473	NEP_HUMAN	Y	82	ENSP00000420389:D82Y;ENSP00000418525:D82Y;ENSP00000420101:D82Y;ENSP00000419653:D82Y;ENSP00000417079:D82Y;ENSP00000353679:D82Y;ENSP00000418791:D82Y;ENSP00000420542:D82Y;ENSP00000417595:D82Y	ENSP00000353679:D82Y	D	+	1	0	0	MME	156315524	156315524	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	4.263000	0.58853	1.328000	0.45358	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	0	0	1		19	2	2	1		1	1	103		103	102	1	2.060000	-9.398417	1	0.170000	NM_000902			42	42		559	552	0		1	0		1	0	103	0		9.991496e-01	1.078532e-01	0	0	0	8	0	42	559
MME	4311	broad.mit.edu	37	3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	195					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)			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)	AATTCTAAATATGGGAAAAAA	0.294																																						ENST00000460393.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				64						c.(583-585)tAt>tGt		membrane metallo-endopeptidase	Candoxatril(DB00616)|Liraglutide(DB06655)						59.0	63.0	61.0					3																	154834705		2203	4296	6499	SO:0001583	missense	4311	1	121390	28				g.chr3:154834705A>G		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.584A>G	chr3.hg19:g.154834705A>G	ENSP00000418525:p.Tyr195Cys	0					MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C	p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	1	2	3	1.998468	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)	7	704	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	1	1	hg19	c.584A>G	CCDS3172.1	1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734859	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.52	0.40303	6.17	3.52	0.40303	Peptidase M13 (1);	0.115285	0.64402	D	0.000010	D	0.86142	0.5862	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88017	0.2766	10	0.87932	D	0	-15.7668	12.7345	0.57216	0.7695:0.0:0.0:0.2305	.	195	P08473	NEP_HUMAN	C	195	ENSP00000420389:Y195C;ENSP00000418525:Y195C;ENSP00000420101:Y195C;ENSP00000419653:Y195C;ENSP00000417079:Y195C;ENSP00000353679:Y195C	ENSP00000353679:Y195C	Y	+	2	0	0	MME	156317399	156317399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.130000	0.42092	0.533000	0.62120	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_000902			41	42		228	219	1		1	0		0	0	56	0		1	1.753248e-01	0	0	0	5	0	41	228
PLCH1	23007	broad.mit.edu	37	3	155198762	155198762	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000340059.7	-	23	5076	c.5077C>T	c.(5077-5079)Ctg>Ttg	p.L1693L	PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000460012.1_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1693					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)			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)			ATAATTCACAGTCTCAAAAGA	0.338																																						ENST00000340059.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										0				107						c.(5077-5079)Ctg>Ttg		phospholipase C, eta 1							39.0	47.0	44.0					3																	155198762		2202	4299	6501	SO:0001819	synonymous_variant	23007	0	0					g.chr3:155198762G>A	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.5077C>T	chr3.hg19:g.155198762G>A		0					PLCH1_ENST00000460012.1_Silent_p.L1655L|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron	p.L1693L	NM_001130960.1	NP_001124432.1	1	2	3	1.998468	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	23	5076	-			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	1	1	hg19	c.5077C>T	CCDS46939.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_014996			38	37		236	235	1		1	1		0	0	60	0		1	9.971391e-02	0	3	0	1	0	38	236
PLCH1	23007	broad.mit.edu	37	3	155199440	155199440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155199440C>A	ENST00000340059.7	-	23	4398	c.4399G>T	c.(4399-4401)Gat>Tat	p.D1467Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1467					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)			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)			ACATGCATATCTTGAGCACTA	0.463																																						ENST00000340059.7	1.000000	0.140000	4.100000e-01	2.000000e-01	0.290000	0.338478	0.290000	0.270000																										0				107						c.(4399-4401)Gat>Tat		phospholipase C, eta 1							116.0	110.0	112.0					3																	155199440		2203	4300	6503	SO:0001583	missense	23007	0	0					g.chr3:155199440C>A	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.4399G>T	chr3.hg19:g.155199440C>A	ENSP00000345988:p.Asp1467Tyr	0					PLCH1_ENST00000460012.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron	p.D1467Y	NM_001130960.1	NP_001124432.1	1	2	3	1.998468	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	23	4398	-			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	0	1	hg19	c.4399G>T	CCDS46939.1	0	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443117	0.12164	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.93	4.05	0.47172	4.93	4.05	0.47172	.	1.702460	0.02980	N	0.145486	T	0.35451	0.0932	L	0.47716	1.5	0.09310	N	1	P;P	0.52692	0.955;0.845	P;B	0.47251	0.542;0.254	T	0.32348	-0.9910	10	0.62326	D	0.03	.	11.2881	0.49234	0.3315:0.6685:0.0:0.0	.	1429;1467	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1429;1467;1429;1429	ENSP00000417502:D1429Y;ENSP00000345988:D1467Y;ENSP00000335469:D1429Y;ENSP00000412977:D1429Y	ENSP00000335469:D1429Y	D	-	1	0	0	PLCH1	156682134	156682134	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.315000	0.33608	1.038000	0.40049	-0.302000	0.09304	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.352149	1	0.170000	NM_014996			10	10		418	406	0		1	0		0	0	88	0		9.964853e-01	2.229021e-02	0	0	0	9	0	10	418
PLCH1	23007	broad.mit.edu	37	3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000340059.7	-	12	1635	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	546					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)			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)			ATGAGGGATCGTCCATGTGAT	0.313																																						ENST00000340059.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				107						c.(1636-1638)Cga>Tga		phospholipase C, eta 1		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	133.0	137.0		1636,1636,1582	5.2	1.0	3	dbSNP_134	137	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	546/1694,546/1003,528/1656	155222376	1,13005	2203	4300	6503	SO:0001587	stop_gained	23007	0	0					g.chr3:155222376G>A	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.1636C>T	chr3.hg19:g.155222376G>A	ENSP00000345988:p.Arg546*	0					PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*	p.R546*	NM_001130960.1	NP_001124432.1	1	2	3	1.998468	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	12	1635	-			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	0	1	hg19	c.1636C>T	CCDS46939.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.501984	0.98838	2.27E-4	0.0	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	1.248860	0.05659	N	0.586524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8058	0.57612	0.0:0.0:0.8367:0.1633	.	.	.	.	X	546;528;546;546;528;528	.	ENSP00000335469:R528X	R	-	1	2	2	PLCH1	156705070	156705070	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.425000	0.52771	2.571000	0.86741	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-15.214440	1	0.170000	NM_014996			27	26		144	143	1		1	0		0	0	62	0		1	2.666667e-02	0	0	0	2	0	27	144
PLCH1	23007	broad.mit.edu	37	3	155286106	155286106	+	Missense_Mutation	SNP	T	T	C	rs200527299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155286106T>C	ENST00000340059.7	-	6	742	c.743A>G	c.(742-744)aAt>aGt	p.N248S	PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000460012.1_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	248					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)			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)			CGTTGTCACATTATTCATCTA	0.318													T|||	1	0.000199681	0.0	0.0	5008	,	,		18785	0.0		0.001	False		,,,				2504	0.0					ENST00000340059.7	1.000000	0.260000	1	4.300000e-01	0.680000	0.694643	0.680000	1.000000																										0				107						c.(742-744)aAt>aGt		phospholipase C, eta 1							65.0	64.0	65.0					3																	155286106		2201	4294	6495	SO:0001583	missense	23007	1	121334	31				g.chr3:155286106T>C	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.743A>G	chr3.hg19:g.155286106T>C	ENSP00000345988:p.Asn248Ser	0					PLCH1_ENST00000460012.1_Missense_Mutation_p.N230S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S	p.N248S	NM_001130960.1	NP_001124432.1	1	2	3	1.998468	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	6	742	-			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	0	1	hg19	c.743A>G	CCDS46939.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.91	2.676056	0.47886	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.54	5.54	0.83059	5.54	5.54	0.83059	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.207947	0.47455	D	0.000227	T	0.21841	0.0526	L	0.50919	1.6	0.47276	D	0.999376	P;P;B	0.37370	0.537;0.592;0.013	B;B;B	0.41135	0.236;0.348;0.02	T	0.01684	-1.1296	10	0.30854	T	0.27	.	15.6779	0.77341	0.0:0.0:0.0:1.0	.	230;248;248	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	248;230;248;248;230;230	ENSP00000419100:N248S;ENSP00000417502:N230S;ENSP00000402759:N248S;ENSP00000345988:N248S;ENSP00000335469:N230S;ENSP00000412977:N230S	ENSP00000335469:N230S	N	-	2	0	0	PLCH1	156768800	156768800	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.489000	0.60309	2.099000	0.63709	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-4.398495	1	0.170000	NM_014996			5	5		89	88	0		1	0		0	0	33	0		9.375384e-01	5.435482e-02	0	0	0	6	0	5	89
C3orf33	285315	broad.mit.edu	37	3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000340171.2	-	5	820	c.722G>T	c.(721-723)aGt>aTt	p.S241I	C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	241					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)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAAAAAACTGTCCTTTTT	0.299																																						ENST00000340171.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.997436	0.990000	1.000000																										0				8						c.(721-723)aGt>aTt		chromosome 3 open reading frame 33							70.0	63.0	65.0					3																	155481469		1780	4057	5837	SO:0001583	missense	285315	0	0					g.chr3:155481469C>A	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.722G>T	chr3.hg19:g.155481469C>A	ENSP00000342512:p.Ser241Ile	0					C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I	p.S241I			1	2	3	1.998468	Q6P1S2	CC033_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	5	820	-			A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	1	1	hg19	c.722G>T		1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795647	0.31777	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46063	0.88;0.88	5.13	0.327	0.15913	5.13	0.327	0.15913	.	0.942736	0.08977	N	0.866334	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.43861	-0.9365	10	0.72032	D	0.01	-5.5109	8.8689	0.35303	0.0:0.5147:0.0:0.4853	.	241	Q6P1S2	CC033_HUMAN	I	198;241;241	ENSP00000445446:S198I;ENSP00000342512:S241I	ENSP00000342512:S241I	S	-	2	0	0	C3orf33	156964163	156964163	0.000000	0.05858	0.308000	0.25141	0.521000	0.34408	-1.494000	0.02296	-0.005000	0.14395	0.650000	0.86243	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_173657			22	22		153	148	1		1	1		0	0	33	0		9.999989e-01	8.643416e-01	0	8	0	19	0	22	153
TIPARP	25976	broad.mit.edu	37	3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	383	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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)			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)			GATTTATGATGTGGAATAACC	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1147-1149)atG>atA		TCDD-inducible poly(ADP-ribose) polymerase							105.0	111.0	109.0					3																	156413716		2203	4300	6503	SO:0001583	missense	25976	0	0					g.chr3:156413716G>A	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.1149G>A	chr3.hg19:g.156413716G>A	ENSP00000420612:p.Met383Ile	0					TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I	p.M383I	NM_001184717.1	NP_001171646.1	1	2	3	1.998468	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)	4	1737	+			D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	1	1	hg19	c.1149G>A	CCDS3177.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.581|9.581	1.123516|1.123516	0.20959|0.20959	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (1);|.	0.043555|.	0.85682|.	D|.	0.000000|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.22421|0.22421	0.69|0.69	0.31574|0.31574	N|N	0.655986|0.655986	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.49607|.	T|.	0.09|.	.|.	6.1501|6.1501	0.20306|0.20306	0.1552:0.1617:0.6831:0.0|0.1552:0.1617:0.6831:0.0	.|.	383|.	Q7Z3E1|.	PARPT_HUMAN|.	I|M	383|86	ENSP00000418757:M383I;ENSP00000295924:M383I;ENSP00000420612:M383I;ENSP00000419982:M383I;ENSP00000418829:M383I;ENSP00000438345:M383I|.	ENSP00000295924:M383I|.	M|V	+|+	3|1	0|0	0|0	TIPARP|TIPARP	157896410|157896410	157896410|157896410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.996000|0.996000	0.29719|0.29719	2.579000|2.579000	0.87056|0.87056	0.460000|0.460000	0.39030|0.39030	ATG|GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_015508			101	97		393	379	1		1	1		0	0	84	0		1	1	0	16	0	89	0	101	393
TIPARP	25976	broad.mit.edu	37	3	156421357	156421357	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	464	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)			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)			ACTTCATCCAAGTCCCTGTTT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1	1.000000	0.770000	1	9.000000e-01	0.990000	0.967023	0.990000	1.000000																										0				23						c.(1390-1392)caA>caG		TCDD-inducible poly(ADP-ribose) polymerase							98.0	100.0	99.0					3																	156421357		2203	4300	6503	SO:0001819	synonymous_variant	25976	1	121412	28				g.chr3:156421357A>G	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.1392A>G	chr3.hg19:g.156421357A>G		0					TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000486483.1_Silent_p.Q464Q	p.Q464Q	NM_001184717.1	NP_001171646.1	1	2	3	1.998468	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)	5	1980	+			D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	1	1	hg19	c.1392A>G	CCDS3177.1	1	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969552	0.18659	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70601	-0.4827	4	.	.	.	.	14.9953	0.71428	1.0:0.0:0.0:0.0	.	.	.	.	G	167	.	.	S	+	1	0	0	TIPARP	157904051	157904051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.018000	0.59344	0.528000	0.53228	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_015508			39	37		398	385	1		1	1		0	0	85	0		1	9.950908e-01	0	7	0	78	0	39	398
BTD	686	broad.mit.edu	37	3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000303498.5	+	2	270	c.161A>G	c.(160-162)gAg>gGg	p.E54G	BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Missense_Mutation_p.E56G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	54					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567																																						ENST00000303498.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(160-162)gAg>gGg		biotinidase							134.0	124.0	127.0					3																	15677047		2203	4300	6503	SO:0001583	missense	686	0	0					g.chr3:15677047A>G	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.161A>G	chr3.hg19:g.15677047A>G	ENSP00000306477:p.Glu54Gly	0					BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000482824.1_3'UTR	p.E54G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	1	2	3	1.998468	P43251	BTD_HUMAN		2	270	+			A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	1	1	hg19	c.161A>G	CCDS2628.1	1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043137	0.08196	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95980	-3.87;-2.55;-2.55;-2.56;-2.29;-2.53	3.24	-2.28	0.06826	3.24	-2.28	0.06826	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.973243	0.08477	N	0.940113	D	0.85221	0.5647	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.73272	-0.4035	10	0.49607	T	0.09	-6.354	0.1601	0.00102	0.3777:0.1765:0.2144:0.2313	.	56;56;54	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	G	34;56;54;56;34;34	ENSP00000397113:E34G;ENSP00000388212:E56G;ENSP00000306477:E54G;ENSP00000400995:E56G;ENSP00000394277:E34G;ENSP00000373288:E34G	ENSP00000306477:E54G	E	+	2	0	0	BTD	15652051	15652051	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.261000	0.18442	-0.453000	0.07076	0.454000	0.30748	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_000060			128	126		543	530	1		1	1		0	0	131	0		1	9.999999e-01	0	24	0	71	0	128	543
TIPARP	25976	broad.mit.edu	37	3	156422599	156422599	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	551	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)			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)			ACCCTCGAGTCTGTGGAAAGC	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1651-1653)gtC>gtA		TCDD-inducible poly(ADP-ribose) polymerase							165.0	166.0	166.0					3																	156422599		2203	4300	6503	SO:0001819	synonymous_variant	25976	0	0					g.chr3:156422599C>A	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.1653C>A	chr3.hg19:g.156422599C>A		0					TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V|TIPARP_ENST00000486483.1_Silent_p.V551V	p.V551V	NM_001184717.1	NP_001171646.1	1	2	3	1.998468	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)	6	2241	+			D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	1	1	hg19	c.1653C>A	CCDS3177.1	1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376662	0.11466	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.77	4.85	0.62838	5.77	4.85	0.62838	.	.	.	.	.	T	0.72252	0.3437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	.	16.9661	0.86286	0.0:0.7817:0.2183:0.0	.	.	.	.	M	254	.	.	L	+	1	2	2	TIPARP	157905293	157905293	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	2.726000	0.93360	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1		2	2	2	0		0	0	194		194	194	1	2.060000	-20.000000	1	0.170000	NM_015508			167	165		872	855	1		1	1		0	0	194	0		1	9.999948e-01	0	10	0	79	0	167	872
BTD	686	broad.mit.edu	37	3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000303498.5	+	4	1479	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	BTD_ENST00000383778.4_Missense_Mutation_p.V437A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	457					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517																																						ENST00000303498.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1369-1371)gTg>gCg		biotinidase		T	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	107.0	107.0		1370	2.0	0.0	3	dbSNP_134	107	0,8600		0,0,4300	no	missense	BTD	NM_000060.2	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	457/544	15686733	1,13005	2203	4300	6503	SO:0001583	missense	686	7	121412	41				g.chr3:15686733T>C	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1370T>C	chr3.hg19:g.15686733T>C	ENSP00000306477:p.Val457Ala	0					BTD_ENST00000383778.4_Missense_Mutation_p.V437A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A	p.V457A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	1	2	3	1.998468	P43251	BTD_HUMAN		4	1479	+			A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	1	1	hg19	c.1370T>C	CCDS2628.1	1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	2.27E-4	0.0	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	1.98	0.26296	5.58	1.98	0.26296	.	0.379003	0.29417	N	0.012208	T	0.75236	0.3822	N	0.12471	0.22	0.31840	N	0.623582	B;B;B	0.15719	0.014;0.014;0.008	B;B;B	0.16289	0.015;0.015;0.015	T	0.66921	-0.5801	10	0.26408	T	0.33	-13.3839	7.5132	0.27585	0.0:0.3816:0.0:0.6184	.	459;459;457	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	459;457;459;437	ENSP00000388212:V459A;ENSP00000306477:V457A;ENSP00000400995:V459A;ENSP00000373288:V437A	ENSP00000306477:V457A	V	+	2	0	0	BTD	15661737	15661737	0.856000	0.29760	0.015000	0.15790	0.532000	0.34746	1.300000	0.33436	0.420000	0.25954	0.459000	0.35465	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_000060			105	105		425	417	1		1	1		0	0	112	0		1	9.999968e-01	0	19	0	56	0	105	425
CCNL1	57018	broad.mit.edu	37	3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	474					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453																																						ENST00000295926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1420-1422)tCt>tTt		cyclin L1							272.0	250.0	258.0					3																	156866190		2203	4300	6503	SO:0001583	missense	57018	0	0					g.chr3:156866190G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1421C>T	chr3.hg19:g.156866190G>A	ENSP00000295926:p.Ser474Phe	0					CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	p.S474F	NM_020307.2	NP_064703.1	1	2	3	1.998468	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)	11	1539	-			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	1	1	hg19	c.1421C>T	CCDS3178.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272501	0.59649	.	.	ENSG00000163660	ENST00000295926	T	0.24350	1.86	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.226724	0.46442	D	0.000294	T	0.34164	0.0888	L	0.55213	1.73	0.80722	D	1	P	0.48911	0.917	P	0.46049	0.502	T	0.15665	-1.0429	10	0.59425	D	0.04	-9.688	18.6886	0.91574	0.0:0.0:1.0:0.0	.	474	Q9UK58	CCNL1_HUMAN	F	474	ENSP00000295926:S474F	ENSP00000295926:S474F	S	-	2	0	0	CCNL1	158348884	158348884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.015000	0.88690	2.458000	0.83093	0.551000	0.68910	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	1	0	1		2	2	2	0		0	0	185		185	182	1	2.060000	-20.000000	1	0.170000	NM_020307			156	151		777	755	1		1	1		0	0	185	0		1	1	0	56	0	124	0	156	777
VEPH1	79674	broad.mit.edu	37	3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	582						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378																																						ENST00000362010.2	1.000000	0.440000	8.700000e-01	5.500000e-01	0.690000	0.710316	0.690000	0.660000																										0				48						c.(1744-1746)Aga>Gga		ventricular zone expressed PH domain-containing 1							127.0	118.0	121.0					3																	157034982		2203	4300	6503	SO:0001583	missense	79674	0	0					g.chr3:157034982T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1744A>G	chr3.hg19:g.157034982T>C	ENSP00000354919:p.Arg582Gly	0					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000475102.1_RNA	p.R582G	NM_001167912.1	NP_001161384.1	1	2	3	1.998468	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	10	2051	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	1	1	hg19	c.1744A>G	CCDS3179.1	0	.	.	.	.	.	.	.	.	.	.	T	7.140	0.581722	0.13749	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08282	3.11;3.13;3.11;3.13	5.46	3.06	0.35304	5.46	3.06	0.35304	.	0.222976	0.46758	D	0.000273	T	0.07908	0.0198	L	0.44542	1.39	0.36912	D	0.890968	B;B	0.16396	0.002;0.017	B;B	0.15870	0.004;0.014	T	0.14035	-1.0487	10	0.42905	T	0.14	-7.5471	9.0914	0.36612	0.0:0.1564:0.0:0.8436	.	582;582	Q14D04-2;Q14D04	.;MELT_HUMAN	G	582	ENSP00000376578:R582G;ENSP00000354919:R582G;ENSP00000446258:R582G;ENSP00000376577:R582G	ENSP00000354919:R582G	R	-	1	2	2	VEPH1	158517676	158517676	0.325000	0.24660	0.534000	0.28014	0.603000	0.37013	1.031000	0.30165	0.929000	0.37192	0.533000	0.62120	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-5.795237	1	0.170000	NM_024621			22	21		363	360	0		1	0		0	0	81	0		9.999988e-01	7.954663e-02	0	0	0	8	0	22	363
VEPH1	79674	broad.mit.edu	37	3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	573						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378																																						ENST00000362010.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1717-1719)gAt>gGt		ventricular zone expressed PH domain-containing 1							163.0	159.0	160.0					3																	157081170		2203	4300	6503	SO:0001583	missense	79674	0	0					g.chr3:157081170T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1718A>G	chr3.hg19:g.157081170T>C	ENSP00000354919:p.Asp573Gly	0					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G	p.D573G	NM_001167912.1	NP_001161384.1	1	2	3	1.998468	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	9	2025	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	1	1	hg19	c.1718A>G	CCDS3179.1	1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631716	0.46944	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09163	3.01;3.04;3.01;3.04	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.098590	0.64402	D	0.000002	T	0.14098	0.0341	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.521	P;B	0.47645	0.553;0.142	T	0.01027	-1.1476	10	0.59425	D	0.04	-14.4798	15.6131	0.76744	0.0:0.0:0.0:1.0	.	573;573	Q14D04-2;Q14D04	.;MELT_HUMAN	G	573	ENSP00000376578:D573G;ENSP00000354919:D573G;ENSP00000446258:D573G;ENSP00000376577:D573G	ENSP00000354919:D573G	D	-	2	0	0	VEPH1	158563864	158563864	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	5.721000	0.68477	2.084000	0.62774	0.533000	0.62120	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_024621			175	174		704	692	1		1	0		0	0	147	0		1	4.223486e-01	0	0	0	7	0	175	704
VEPH1	79674	broad.mit.edu	37	3	157099043	157099043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000543418.1_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	343						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507																																						ENST00000362010.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1027-1029)ggC>ggT		ventricular zone expressed PH domain-containing 1							185.0	177.0	179.0					3																	157099043		2203	4300	6503	SO:0001819	synonymous_variant	79674	0	0					g.chr3:157099043G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1029C>T	chr3.hg19:g.157099043G>A		0					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000392832.2_Silent_p.G343G	p.G343G	NM_001167912.1	NP_001161384.1	1	2	3	1.998468	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	7	1336	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	1	1	hg19	c.1029C>T	CCDS3179.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_024621			121	118		506	491	1		1	0		0	0	104	0		1	6.574335e-01	0	0	0	11	0	121	506
VEPH1	79674	broad.mit.edu	37	3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	252						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418																																						ENST00000362010.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(754-756)gAc>gGc		ventricular zone expressed PH domain-containing 1							110.0	105.0	106.0					3																	157131821		2203	4300	6503	SO:0001583	missense	79674	0	0					g.chr3:157131821T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.755A>G	chr3.hg19:g.157131821T>C	ENSP00000354919:p.Asp252Gly	0					VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G	p.D252G	NM_001167912.1	NP_001161384.1	1	2	3	1.998468	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	6	1062	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	1	1	hg19	c.755A>G	CCDS3179.1	1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421162	0.42918	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.045054	0.85682	D	0.000000	T	0.47284	0.1437	L	0.41236	1.265	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.26395	-1.0104	10	0.25751	T	0.34	-2.4488	14.9032	0.70696	0.0:0.0:0.0:1.0	.	252;252	Q14D04-2;Q14D04	.;MELT_HUMAN	G	252	ENSP00000376578:D252G;ENSP00000354919:D252G;ENSP00000446258:D252G;ENSP00000376577:D252G	ENSP00000354919:D252G	D	-	2	0	0	VEPH1	158614515	158614515	0.994000	0.37717	0.115000	0.21578	0.967000	0.64934	3.823000	0.55715	2.251000	0.74343	0.528000	0.53228	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_024621			47	46		207	204	1		1	0		0	0	66	0		1	1.631620e-01	0	0	0	4	0	47	207
ANKRD28	23243	broad.mit.edu	37	3	15756164	15756164	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363																																						ENST00000399451.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999766	0.990000	1.000000																										0				6						c.e9-1		ankyrin repeat domain 28							56.0	60.0	59.0					3																	15756164		1812	4070	5882	SO:0001630	splice_region_variant	23243	0	0					g.chr3:15756164C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-1G>A	chr3.hg19:g.15756164C>T		0					ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	1	2	3	1.998468	O15084	ANR28_HUMAN		9	1274	-			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	1	1	hg19		CCDS46769.1	1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629505	0.67015	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	4.96	4.96	0.65561	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7519	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ANKRD28	15731168	15731168	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.968000	0.70413	2.446000	0.82766	0.561000	0.74099	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.428211	1	0.170000	NM_015199	Intron		19	19		94	92	1		1			0	0	25	0		9.999940e-01	0	0	0	0	0	0	19	94
VEPH1	79674	broad.mit.edu	37	3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	118						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458																																						ENST00000362010.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999559	0.990000	1.000000																										0				48						c.(352-354)Cag>Tag		ventricular zone expressed PH domain-containing 1							74.0	70.0	71.0					3																	157188105		2203	4300	6503	SO:0001587	stop_gained	79674	0	0					g.chr3:157188105G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.352C>T	chr3.hg19:g.157188105G>A	ENSP00000354919:p.Gln118*	0					VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*	p.Q118*	NM_001167912.1	NP_001161384.1	1	2	3	1.998468	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	3	659	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Nonsense_Mutation	SNP	ENST00000362010.2	0	1	hg19	c.352C>T	CCDS3179.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.267774	0.97426	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1046	19.1841	0.93635	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;6;118;118;118;118	.	ENSP00000354919:Q118X	Q	-	1	0	0	VEPH1	158670799	158670799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.537000	0.85549	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_024621			29	29		187	185	0		1	0		0	0	34	0		1	4.560179e-01	0	1	0	10	0	29	187
SHOX2	6474	broad.mit.edu	37	3	157816011	157816011	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000425436.3	-	5	826	c.801C>T	c.(799-801)caC>caT	p.H267H	SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000490689.2_Silent_p.H126H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000389589.4_Silent_p.H291H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	267					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672																																						ENST00000425436.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(799-801)caC>caT		short stature homeobox 2							60.0	64.0	63.0					3																	157816011		2203	4298	6501	SO:0001819	synonymous_variant	6474	0	0					g.chr3:157816011G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.801C>T	chr3.hg19:g.157816011G>A		0					SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000490689.2_Silent_p.H126H	p.H267H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	1	2	3	1.998468	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)	5	826	-			O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	1	1	hg19	c.801C>T	CCDS43164.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459875	0.63401	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	T	0.73705	0.3621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72693	-0.4216	4	.	.	.	.	17.6754	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	I	158	.	.	T	-	2	0	0	SHOX2	159298705	159298705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.527000	0.85204	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000				129	128		611	604	0		1	0		0	0	92	0		1	0	0	0	0	1	0	129	611
RSRC1	51319	broad.mit.edu	37	3	157823784	157823784	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGTCAAAAGACTTGGAGACGA	0.607																																						ENST00000480820.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18								arginine/serine-rich coiled-coil 1							36.0	38.0	38.0					3																	157823784		1930	4123	6053			51319	0	0					g.chr3:157823784C>A	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	ENST00000480820.1:c.-18C>A	chr3.hg19:g.157823784C>A		0					SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000490689.2_5'Flank				1	2	3	1.998468	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)	0	141	+			A8K2R9|Q96QK2|Q9NZE5	Translation_Start_Site	SNP	ENST00000480820.1	0	1	hg19		CCDS3181.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198165	0.79015	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97976	-4.64;-4.64;-4.64	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000004	D	0.97757	0.9264	L	0.39245	1.2	0.80722	D	1	B;D;D	0.89917	0.447;1.0;1.0	B;D;D	0.83275	0.075;0.996;0.987	D	0.98883	1.0770	10	0.66056	D	0.02	.	16.0873	0.81065	0.0:1.0:0.0:0.0	.	10;10;10	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	10	ENSP00000398704:K10N;ENSP00000374240:K10N;ENSP00000419362:K10N	ENSP00000374240:K10N	K	-	3	2	2	SHOX2;AC112502.1	159306478	159306478	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	1.938000	0.56188	0.561000	0.74099	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RSRC1-007	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352156.1	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_016625			72	72		292	287	0		1	0		0	0	55	0		1	1.042577e-01	0	0	0	3	0	72	292
MLF1	4291	broad.mit.edu	37	3	158315917	158315917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158315917G>T	ENST00000355893.5	+	4	466	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000359117.5_Missense_Mutation_p.V85F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	110	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTCCTCAGTTATGACTTA	0.368			T	NPM1	AML																																	ENST00000355893.5	1.000000	0.140000	4.300000e-01	2.100000e-01	0.290000	0.344667	0.290000	0.280000				Dom	yes			Dom	yes		3	3q25.1	3q25.1	4291	T	myeloid leukemia factor 1				L	L	NPM1		AML		0				3						c.(328-330)Gtt>Ttt		myeloid leukemia factor 1							87.0	90.0	89.0					3																	158315917		2203	4300	6503	SO:0001583	missense	4291	0	0					g.chr3:158315917G>T	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.328G>T	chr3.hg19:g.158315917G>T	ENSP00000348157:p.Val110Phe	0					MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000359117.5_Missense_Mutation_p.V85F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F	p.V110F	NM_022443.4	NP_071888.1	1	2	3	1.998468	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)	4	466	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	0	1	hg19	c.328G>T	CCDS3182.1	0	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340854	0.60963	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.58797	0.5;0.37;0.45;0.45;0.44;0.31;0.45;0.31;0.4	5.44	2.28	0.28536	5.44	2.28	0.28536	.	0.259886	0.33515	N	0.004840	T	0.65719	0.2718	L	0.50333	1.59	0.26948	N	0.966105	D;D	0.71674	0.998;0.995	D;D	0.71414	0.973;0.959	T	0.57100	-0.7869	10	0.37606	T	0.19	-16.2454	10.8672	0.46862	0.3256:0.0:0.6744:0.0	.	141;110	Q8N8F8;P58340	.;MLF1_HUMAN	F	36;110;85;85;65;100;100;85;100;141;125	ENSP00000420410:V36F;ENSP00000348157:V110F;ENSP00000417835:V85F;ENSP00000352025:V85F;ENSP00000419636:V65F;ENSP00000420134:V100F;ENSP00000417141:V85F;ENSP00000417777:V100F;ENSP00000376568:V141F	ENSP00000348157:V110F	V	+	1	0	0	MLF1	159798611	159798611	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.451000	0.52964	0.683000	0.31428	0.563000	0.77884	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-8.927488	1	0.170000	NM_022443			9	9		371	365	0		1	0		0	0	71	0		9.939241e-01	4.692394e-01	0	0	0	62	0	9	371
GFM1	85476	broad.mit.edu	37	3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 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)			ATGAAGCGCTACAACGTTCCG	0.493																																						ENST00000486715.1	1.000000	0.150000	5.200000e-01	2.300000e-01	0.350000	0.397192	0.350000	0.320000																										0				22						c.(493-495)tAc>tGc		G elongation factor, mitochondrial 1							166.0	144.0	151.0					3																	158364658		2203	4300	6503	SO:0001583	missense	85476	0	0					g.chr3:158364658A>G	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.494A>G	chr3.hg19:g.158364658A>G	ENSP00000419038:p.Tyr165Cys	0					GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C|GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C	p.Y165C	NM_024996.5	NP_079272.4	1	2	3	1.998468			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)	4	851	+				Missense_Mutation	SNP	ENST00000486715.1	1	1	hg19	c.494A>G	CCDS33885.1	0	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244912	0.79912	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74947	-0.89;-0.89;-0.89	5.86	5.86	0.93980	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99890	4.9	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	0.96582	0.9431	10	0.87932	D	0	-16.7381	16.316	0.82928	1.0:0.0:0.0:0.0	.	165;165;165	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	165	ENSP00000419038:Y165C;ENSP00000418755:Y165C;ENSP00000264263:Y165C	ENSP00000264263:Y165C	Y	+	2	0	0	GFM1	159847352	159847352	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.884000	0.92432	2.248000	0.74166	0.524000	0.50904	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	0	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-8.455055	1	0.170000	NM_024996			7	7		248	247	0		1	1		0	0	48	0		9.807491e-01	7.411100e-01	0	3	0	90	0	7	248
GFM1	85476	broad.mit.edu	37	3	158399842	158399842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158399842G>T	ENST00000486715.1	+	14	2017	c.1660G>T	c.(1660-1662)Ggt>Tgt	p.G554C	GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 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)			AAAAGTAATAGGTGTCCTGGA	0.383																																						ENST00000486715.1	1.000000	0.220000	6.900000e-01	3.300000e-01	0.480000	0.519213	0.480000	0.440000																										0				22						c.(1660-1662)Ggt>Tgt		G elongation factor, mitochondrial 1							54.0	54.0	54.0					3																	158399842		2203	4300	6503	SO:0001583	missense	85476	0	0					g.chr3:158399842G>T	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.1660G>T	chr3.hg19:g.158399842G>T	ENSP00000419038:p.Gly554Cys	0					GFM1_ENST00000478576.1_Missense_Mutation_p.G554C|GFM1_ENST00000264263.5_Missense_Mutation_p.G573C	p.G554C	NM_024996.5	NP_079272.4	1	2	3	1.998468			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)	14	2017	+				Missense_Mutation	SNP	ENST00000486715.1	1	1	hg19	c.1660G>T	CCDS33885.1	0	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437298	0.83885	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.30182	1.54;1.54;1.54	6.03	5.15	0.70609	6.03	5.15	0.70609	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);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69684	-0.5079	10	0.72032	D	0.01	-22.9342	15.4147	0.74956	0.0664:0.0:0.9336:0.0	.	573;554;554	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	554;554;573	ENSP00000419038:G554C;ENSP00000418755:G554C;ENSP00000264263:G573C	ENSP00000264263:G573C	G	+	1	0	0	GFM1	159882536	159882536	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.461000	0.97646	1.561000	0.49584	0.655000	0.94253	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-9.880560	1	0.170000	NM_024996			8	8		202	196	0		1	1		0	0	34	0		9.884948e-01	9.490684e-01	0	11	0	124	0	8	202
IFT80	57560	broad.mit.edu	37	3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	253					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)				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)			ATCACACAAGCGTAAAGTATG	0.423																																						ENST00000326448.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(757-759)cGc>cAc		intraflagellar transport 80		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	144.0	132.0	136.0		758,347,347	5.4	1.0	3	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	IFT80	NM_020800.2,NM_001190242.1,NM_001190241.1	29,29,29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign,benign	253/778,116/641,116/641	160073820	5,13001	2203	4300	6503	SO:0001583	missense	57560	17	121412	46				g.chr3:160073820C>T	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.758G>A	chr3.hg19:g.160073820C>T	ENSP00000312778:p.Arg253His	0					IFT80_ENST00000483465.1_Missense_Mutation_p.R116H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H	p.R253H	NM_020800.2	NP_065851.1	1	2	3	1.998468	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)	8	1190	-			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	1	1	hg19	c.758G>A	CCDS3188.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650169	0.67472	0.0	5.81E-4	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.37	5.37	0.77165	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.210664	0.27384	U	0.019619	T	0.73289	0.3568	M	0.84846	2.72	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.73889	-0.3840	10	0.66056	D	0.02	-15.0695	19.1062	0.93296	0.0:1.0:0.0:0.0	.	253	Q9P2H3	IFT80_HUMAN	H	253;116;116;116	ENSP00000312778:R253H;ENSP00000418196:R116H;ENSP00000420646:R116H;ENSP00000418602:R116H	ENSP00000312778:R253H	R	-	2	0	0	IFT80	161556514	161556514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.520000	0.84964	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	1	0	0		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_020800			89	89		445	437	1		1	1		0	0	123	0		1	9.965873e-01	0	10	0	35	0	89	445
IFT80	57560	broad.mit.edu	37	3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	240					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)				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)			AATTCTCCATCTGGAGCCCAG	0.413																																						ENST00000326448.7	1.000000	0.380000	7.600000e-01	4.800000e-01	0.600000	0.629609	0.600000	0.590000																										0				36						c.(718-720)Gat>Aat		intraflagellar transport 80							111.0	102.0	105.0					3																	160073860		2203	4300	6503	SO:0001583	missense	57560	0	0					g.chr3:160073860C>T	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.718G>A	chr3.hg19:g.160073860C>T	ENSP00000312778:p.Asp240Asn	0					IFT80_ENST00000483465.1_Missense_Mutation_p.D103N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N	p.D240N	NM_020800.2	NP_065851.1	1	2	3	1.998468	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)	8	1150	-			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	1	1	hg19	c.718G>A	CCDS3188.1	0	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517515	0.64634	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.62498	1.3;0.02;0.02;1.37	5.37	4.5	0.54988	5.37	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000030	T	0.64907	0.2641	L	0.31476	0.935	0.80722	D	1	D	0.56968	0.978	P	0.60473	0.875	T	0.63301	-0.6668	10	0.34782	T	0.22	-12.0688	13.5991	0.62010	0.0:0.9256:0.0:0.0744	.	240	Q9P2H3	IFT80_HUMAN	N	240;103;103;103	ENSP00000312778:D240N;ENSP00000418196:D103N;ENSP00000420646:D103N;ENSP00000418602:D103N	ENSP00000312778:D240N	D	-	1	0	0	IFT80	161556554	161556554	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.422000	0.80217	1.268000	0.44264	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-5.294046	1	0.170000	NM_020800			22	22		419	414	0		1	1		0	0	95	0		9.999987e-01	7.320909e-01	0	5	0	46	0	22	419
SMC4	10051	broad.mit.edu	37	3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1051					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)			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)			GAAGATAATCCTATTGAAGAG	0.343																																						ENST00000357388.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				48						c.(3151-3153)cCt>cAt		structural maintenance of chromosomes 4							45.0	51.0	49.0					3																	160149468		2202	4300	6502	SO:0001583	missense	10051	0	0					g.chr3:160149468C>A	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.3152C>A	chr3.hg19:g.160149468C>A	ENSP00000349961:p.Pro1051His	0					SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	p.P1051H	NM_001002800.1	NP_001002800.1	1	2	3	1.998468	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)	21	3603	+			A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	1	1	hg19	c.3152C>A	CCDS3189.1	1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013696	0.54468	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77620	-0.84;-1.11;-0.83;-1.11;-0.84	6.06	5.18	0.71444	6.06	5.18	0.71444	RecF/RecN/SMC (1);	0.091308	0.85682	N	0.000000	T	0.74496	0.3724	L	0.58510	1.815	0.53688	D	0.99997	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.18871	0.004;0.012;0.016;0.023	T	0.69316	-0.5177	10	0.28530	T	0.3	-6.5535	15.0777	0.72090	0.2585:0.7415:0.0:0.0	.	993;1026;1026;1051	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1051;993;1026;993;1051;645	ENSP00000349961:P1051H;ENSP00000353225:P993H;ENSP00000417964:P1026H;ENSP00000420734:P993H;ENSP00000341382:P1051H	ENSP00000341382:P1051H	P	+	2	0	0	SMC4	161632162	161632162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	1.554000	0.49487	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1	0	0	1		14	8	2	1		1	1	63		63	63	1	2.060000	-2.923597	1	0.170000				43	43		215	212	1		1	1		1	0	63	0		9.999890e-01	9.917068e-01	0	31	0	70	0	43	215
TRIM59	286827	broad.mit.edu	37	3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	rs142551772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000309784.4	-	3	958	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H|TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	258					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)			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)			TACATGCTGGCGTACATCATC	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		17942	0.0		0.0	False		,,,				2504	0.0031					ENST00000309784.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(772-774)cGc>cAc		tripartite motif containing 59		C	HIS/ARG	0,4406		0,0,2203	98.0	103.0	101.0		773	4.9	0.8	3	dbSNP_134	101	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRIM59	NM_173084.2	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	258/404	160156199	3,13001	2203	4299	6502	SO:0001583	missense	286827	78	121410	52				g.chr3:160156199C>T	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.773G>A	chr3.hg19:g.160156199C>T	ENSP00000311219:p.Arg258His	0					TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H	p.R258H	NM_173084.2	NP_775107.1	1	2	3	1.998468	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)	3	958	-			A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	1	1	hg19	c.773G>A	CCDS3190.1	1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971880	0.53614	0.0	3.49E-4	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25749	1.99;1.78	5.77	4.89	0.63831	5.77	4.89	0.63831	.	0.109676	0.64402	D	0.000014	T	0.18467	0.0443	L	0.33485	1.01	0.33875	D	0.635472	B	0.26041	0.14	B	0.17722	0.019	T	0.14671	-1.0464	9	.	.	.	-13.8692	12.589	0.56434	0.0:0.8694:0.0:0.1306	.	258	Q8IWR1	TRI59_HUMAN	H	258	ENSP00000444313:R258H;ENSP00000311219:R258H	.	R	-	2	0	0	TRIM59	161638893	161638893	0.155000	0.22806	0.804000	0.32291	0.439000	0.31926	1.478000	0.35442	2.724000	0.93272	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-4.255993	1	0.170000	NM_173084			116	116		526	516	1		1	1		0	0	131	0		1	9.756911e-01	0	6	0	23	0	116	526
TRIM59	286827	broad.mit.edu	37	3	160156854	160156854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156854C>A	ENST00000309784.4	-	3	303	c.118G>T	c.(118-120)Gca>Tca	p.A40S	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S|TRIM59_ENST00000543469.1_Missense_Mutation_p.A40S	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	40					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)			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)			TTACCAGATGCCTGAAGAATG	0.358																																						ENST00000309784.4	1.000000	0.240000	5.700000e-01	3.200000e-01	0.420000	0.465105	0.420000	0.410000																										0				15						c.(118-120)Gca>Tca		tripartite motif containing 59							71.0	73.0	72.0					3																	160156854		2203	4300	6503	SO:0001583	missense	286827	0	0					g.chr3:160156854C>A	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.118G>T	chr3.hg19:g.160156854C>A	ENSP00000311219:p.Ala40Ser	0					TRIM59_ENST00000543469.1_Missense_Mutation_p.A40S|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S	p.A40S	NM_173084.2	NP_775107.1	1	2	3	1.998468	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)	3	303	-			A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	1	1	hg19	c.118G>T	CCDS3190.1	0	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857260	0.71834	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	T;T;D;D;D;D;D;D	0.92752	1.11;1.11;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.87	5.87	0.94306	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.258560	0.39615	N	0.001303	D	0.83667	0.5304	N	0.10618	0.0049999999999999	0.27882	N	0.939651	B	0.32128	0.357	B	0.38225	0.268	T	0.74562	-0.3624	9	.	.	.	8.2121	10.7133	0.45997	0.1289:0.6954:0.1758:0.0	.	40	Q8IWR1	TRI59_HUMAN	S	40;40;40;40;68;40;40;47	ENSP00000444313:A40S;ENSP00000311219:A40S;ENSP00000417081:A40S;ENSP00000420520:A40S;ENSP00000418856:A68S;ENSP00000418699:A40S;ENSP00000417605:A40S;ENSP00000420451:A47S	.	A	-	1	0	0	TRIM59	161639548	161639548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	2.941000	0.99782	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-14.405580	1	0.170000	NM_173084			15	15		415	409	0		1	0		0	0	68	0		9.998628e-01	2.105387e-01	0	0	0	23	0	15	415
PPM1L	151742	broad.mit.edu	37	3	160474238	160474238	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160474238A>G	ENST00000498165.1	+	1	243	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	48					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGTGAAGACCATCGTGAAGTC	0.567																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1	1.000000	0.170000	4.800000e-01	2.400000e-01	0.340000	0.386377	0.340000	0.320000																										0				13						c.(142-144)Atc>Gtc		protein phosphatase, Mg2+/Mn2+ dependent, 1L							133.0	119.0	124.0					3																	160474238		2203	4300	6503	SO:0001583	missense	151742	0	0					g.chr3:160474238A>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.142A>G	chr3.hg19:g.160474238A>G	ENSP00000417659:p.Ile48Val	0					PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V|RP11-16N11.2_ENST00000566372.1_RNA	p.I48V	NM_139245.2	NP_640338.2	1	2	3	1.998468	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)	1	243	+			Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	0	1	hg19	c.142A>G	CCDS33886.1	0	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917566	0.52546	.	.	ENSG00000163590	ENST00000497343;ENST00000498165	T	0.22336	1.96	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14559	-1.0468	10	0.14252	T	0.57	.	13.3993	0.60872	1.0:0.0:0.0:0.0	.	48	Q5SGD2	PPM1L_HUMAN	V	48	ENSP00000417659:I48V	ENSP00000420354:I48V	I	+	1	0	0	PPM1L	161956932	161956932	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.668000	0.91158	1.775000	0.52247	0.402000	0.26972	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	0	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-10.221890	1	0.170000	NM_139245			10	9		355	349	0		1	1		0	0	66	0		9.966666e-01	8.499692e-02	0	2	0	14	0	10	355
OXNAD1	92106	broad.mit.edu	37	3	16343174	16343174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000606098.1_Silent_p.E158E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000544043.1_Silent_p.E176E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	158	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483																																						ENST00000285083.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				13						c.(472-474)gaG>gaA		oxidoreductase NAD-binding domain containing 1							88.0	83.0	85.0					3																	16343174		2202	4300	6502	SO:0001819	synonymous_variant	92106	0	0					g.chr3:16343174G>A	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.474G>A	chr3.hg19:g.16343174G>A		0					OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000606098.1_Silent_p.E158E	p.E158E	NM_138381.3	NP_612390.1	1	2	3	1.998468	Q96HP4	OXND1_HUMAN		7	939	+			Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	1	1	hg19	c.474G>A	CCDS2630.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_138381			29	29		144	141	1		1	1		0	0	47	0		1	9.992451e-01	0	14	0	45	0	29	144
RFTN1	23180	broad.mit.edu	37	3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	238					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)			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						GGAGGGTGAGCTGGGCTGCTT	0.642																																						ENST00000334133.4	1.000000	0.280000	7.100000e-01	3.800000e-01	0.520000	0.555109	0.520000	0.500000																										0				38						c.(712-714)aGc>aAc		raftlin, lipid raft linker 1							53.0	56.0	55.0					3																	16419338		2203	4300	6503	SO:0001583	missense	23180	1	121412	28				g.chr3:16419338C>T	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.713G>A	chr3.hg19:g.16419338C>T	ENSP00000334153:p.Ser238Asn	0					RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	p.S238N	NM_015150.1	NP_055965.1	1	2	3	1.998468	Q14699	RFTN1_HUMAN		5	985	-			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	1	1	hg19	c.713G>A	CCDS33712.1	0	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308571	0.40895	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49720	1.43;1.44;0.77	5.36	2.57	0.30868	5.36	2.57	0.30868	.	2.132120	0.01784	N	0.031937	T	0.31136	0.0787	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.004;0.006	T	0.26467	-1.0102	10	0.02654	T	1	-1.0799	8.8139	0.34985	0.0:0.6756:0.0:0.3244	.	202;238	G3XAJ6;Q14699	.;RFTN1_HUMAN	N	202;238;238	ENSP00000403926:S202N;ENSP00000334153:S238N;ENSP00000403997:S238N	ENSP00000334153:S238N	S	-	2	0	0	RFTN1	16394342	16394342	0.000000	0.05858	0.015000	0.15790	0.471000	0.32888	-0.151000	0.10175	0.640000	0.30582	0.561000	0.74099	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-13.668870	1	0.170000	NM_015150			12	12		272	268	0		1	0		0	0	40	0		9.990951e-01	9.953678e-01	0	0	0	209	0	12	272
RFTN1	23180	broad.mit.edu	37	3	16450939	16450939	+	Silent	SNP	G	G	A	rs369536397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	128					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)			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						AGGAGGAACAGCAATCTAATT	0.423																																						ENST00000334133.4	1.000000	0.280000	6.200000e-01	3.700000e-01	0.470000	0.512093	0.470000	0.460000																										0				38						c.(382-384)tgC>tgT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	164.0	154.0	157.0		384	5.5	1.0	3		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFTN1	NM_015150.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/579	16450939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23180	2	121412	34				g.chr3:16450939G>A	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.384C>T	chr3.hg19:g.16450939G>A		0					RFTN1_ENST00000432519.1_Silent_p.C92C	p.C128C	NM_015150.1	NP_055965.1	1	2	3	1.998468	Q14699	RFTN1_HUMAN		4	656	-			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	1	1	hg19	c.384C>T	CCDS33712.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	0	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-4.105498	1	0.170000	NM_015150			17	16		417	406	0		1	0		0	0	71	0		9.999579e-01	9.960097e-01	0	0	0	221	0	17	417
RFTN1	23180	broad.mit.edu	37	3	16450991	16450991	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1						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)			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						TTTCTGAGATCTGAAGAGAAA	0.438																																						ENST00000334133.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.e4-1		raftlin, lipid raft linker 1							100.0	95.0	97.0					3																	16450991		2203	4300	6503	SO:0001630	splice_region_variant	23180	0	0					g.chr3:16450991C>A	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.333-1G>T	chr3.hg19:g.16450991C>A		0					RFTN1_ENST00000432519.1_Splice_Site		NM_015150.1	NP_055965.1	1	2	3	1.998468	Q14699	RFTN1_HUMAN		4	605	-			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Splice_Site	SNP	ENST00000334133.4	1	1	hg19		CCDS33712.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488476	0.44249	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1773	0.72924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RFTN1	16425995	16425995	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	4.084000	0.57650	2.656000	0.90262	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_015150	Intron		53	53		222	216	0		1	0		0	0	50	0		1	3.856842e-02	0	0	0	2	0	53	222
NMD3	51068	broad.mit.edu	37	3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	155					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)			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)			TTCTGGAAGGCTGTGATTCAA	0.373																																						ENST00000460469.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(463-465)gCt>gTt		NMD3 ribosome export adaptor							188.0	181.0	184.0					3																	160952621		2203	4300	6503	SO:0001583	missense	51068	0	0					g.chr3:160952621C>T	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.464C>T	chr3.hg19:g.160952621C>T	ENSP00000419004:p.Ala155Val	0					NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR	p.A155V			1	2	3	1.998468	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)	5	919	+			D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	1	1	hg19	c.464C>T	CCDS3194.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.313233	0.95655	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.62941	0.45;0.21;0.05;-0.01;0.21;0.35;0.05	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.103596	0.64402	D	0.000003	D	0.85106	0.5621	H	0.95402	3.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72075	0.976;0.96	D	0.90009	0.4120	10	0.87932	D	0	-23.6263	17.2642	0.87081	0.0:1.0:0.0:0.0	.	155;155	C9JA08;Q96D46	.;NMD3_HUMAN	V	155;155;155;155;155;155;155;35	ENSP00000418980:A155V;ENSP00000419030:A155V;ENSP00000307525:A155V;ENSP00000417559:A155V;ENSP00000418908:A155V;ENSP00000419647:A155V;ENSP00000419004:A155V	ENSP00000307525:A155V	A	+	2	0	0	NMD3	162435315	162435315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.376000	0.81061	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_015938			101	100		531	521	1		1	1		0	0	97	0		1	1	0	59	0	145	0	101	531
SI	6476	broad.mit.edu	37	3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	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)			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)	TTAGCAGCCACCATAGCGTCA	0.343										HNSCC(35;0.089)																												ENST00000264382.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999466	0.990000	1.000000																										0				218						c.(3739-3741)Gtg>Ttg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)|Scopolamine(DB00747)						61.0	59.0	60.0					3																	164735356		2202	4297	6499	SO:0001583	missense	6476	0	0					g.chr3:164735356C>A	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.3739G>T	chr3.hg19:g.164735356C>A	ENSP00000264382:p.Val1247Leu	0	HNSCC(35;0.089)					p.V1247L	NM_001041.3	NP_001032.2	1	2	3	1.998468	P14410	SUIS_HUMAN		31	3801	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	1	1	hg19	c.3739G>T	CCDS3196.1	1	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126324	0.06795	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.31	1.04	0.20106	5.31	1.04	0.20106	Glycoside hydrolase, superfamily (1);	0.966348	0.08594	N	0.922511	D	0.83681	0.5307	L	0.41906	1.305	0.18873	N	0.999984	B	0.12013	0.005	B	0.21546	0.035	T	0.64892	-0.6300	10	0.11182	T	0.66	.	5.9688	0.19340	0.0:0.502:0.1289:0.3691	.	1247	P14410	SUIS_HUMAN	L	1247	ENSP00000264382:V1247L	ENSP00000264382:V1247L	V	-	1	0	0	SI	166218050	166218050	0.096000	0.21769	0.166000	0.22797	0.012000	0.07955	0.350000	0.20079	0.006000	0.14734	0.591000	0.81541	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	0		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_001041			34	34		234	227	1		1	1		0	0	25	0		1	1.722017e-02	0	2	0	0	0	34	234
SI	6476	broad.mit.edu	37	3	164735363	164735363	+	Silent	SNP	G	G	A	rs200449490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	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)			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)	CCACCATAGCGTCATATAATT	0.348										HNSCC(35;0.089)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		15212	0.0		0.0	False		,,,				2504	0.0					ENST00000264382.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993280	0.990000	1.000000																										0				218						c.(3730-3732)gaC>gaT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)|Scopolamine(DB00747)						64.0	61.0	62.0					3																	164735363		2203	4298	6501	SO:0001819	synonymous_variant	6476	7	121400	38				g.chr3:164735363G>A	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.3732C>T	chr3.hg19:g.164735363G>A		0	HNSCC(35;0.089)					p.D1244D	NM_001041.3	NP_001032.2	1	2	3	1.998468	P14410	SUIS_HUMAN		31	3794	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	1	1	hg19	c.3732C>T	CCDS3196.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	0		2	2	2	0		0	0	24		24	23	1	2.060000	-11.939590	1	0.170000	NM_001041			28	27		229	224	1		1	0		0	0	24	0		1	0	0	0	0	1	0	28	229
SI	6476	broad.mit.edu	37	3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	945	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			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)	TCTGCATCTGGATAACAATTA	0.328										HNSCC(35;0.089)																												ENST00000264382.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(2833-2835)Cca>Tca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)|Scopolamine(DB00747)						89.0	95.0	93.0					3																	164748559		2202	4295	6497	SO:0001583	missense	6476	0	0					g.chr3:164748559G>A	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.2833C>T	chr3.hg19:g.164748559G>A	ENSP00000264382:p.Pro945Ser	0	HNSCC(35;0.089)					p.P945S	NM_001041.3	NP_001032.2	1	2	3	1.998468	P14410	SUIS_HUMAN		25	2895	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	1	1	hg19	c.2833C>T	CCDS3196.1	1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936796	0.52972	.	.	ENSG00000090402	ENST00000264382	T	0.12984	2.63	4.94	4.94	0.65067	4.94	4.94	0.65067	P-type trefoil (4);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.89785	3.06	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	T	0.54316	-0.8312	10	0.87932	D	0	.	15.0109	0.71550	0.0:0.0:1.0:0.0	.	945	P14410	SUIS_HUMAN	S	945	ENSP00000264382:P945S	ENSP00000264382:P945S	P	-	1	0	0	SI	166231253	166231253	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	5.498000	0.66931	2.563000	0.86464	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_001041			73	70		346	339	1		1	1		0	0	80	0		1	8.249189e-02	0	2	0	1	0	73	346
SLITRK3	22865	broad.mit.edu	37	3	164906516	164906516	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	701					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						ATTGCATTTGGATGCCAGTAA	0.577										HNSCC(40;0.11)																												ENST00000475390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(2101-2103)atC>atA		SLIT and NTRK-like family, member 3							97.0	73.0	82.0					3																	164906516		2203	4300	6503	SO:0001819	synonymous_variant	22865	0	0					g.chr3:164906516G>T	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.2103C>A	chr3.hg19:g.164906516G>T		0	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.I701I	p.I701I			1	2	3	1.998468	O94933	SLIK3_HUMAN		2	2546	-			Q1RMY6	Silent	SNP	ENST00000475390.1	1	1	hg19	c.2103C>A	CCDS3197.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_014926			75	72		296	286	1		1	0		0	0	76	0		1	2.709264e-01	0	0	0	5	0	75	296
SLITRK3	22865	broad.mit.edu	37	3	164906549	164906549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	690					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						CCTGCCGCTTGCTTCTGAAGG	0.562										HNSCC(40;0.11)																												ENST00000475390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(2068-2070)agC>agT		SLIT and NTRK-like family, member 3							90.0	72.0	78.0					3																	164906549		2203	4300	6503	SO:0001819	synonymous_variant	22865	0	0					g.chr3:164906549G>A	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.2070C>T	chr3.hg19:g.164906549G>A		0	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.S690S	p.S690S			1	2	3	1.998468	O94933	SLIK3_HUMAN		2	2513	-			Q1RMY6	Silent	SNP	ENST00000475390.1	1	1	hg19	c.2070C>T	CCDS3197.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	0		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_014926			57	57		272	263	0		1	0		0	0	74	0		1	3.525805e-01	0	0	0	7	0	57	272
SLITRK3	22865	broad.mit.edu	37	3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T	rs201622569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						CTCAATAGTGCGCACATCACG	0.547										HNSCC(40;0.11)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0					ENST00000475390.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(1807-1809)cGc>cAc		SLIT and NTRK-like family, member 3							69.0	64.0	66.0					3																	164906811		2203	4300	6503	SO:0001583	missense	22865	1	121412	22				g.chr3:164906811C>T	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.1808G>A	chr3.hg19:g.164906811C>T	ENSP00000420091:p.Arg603His	0	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H	p.R603H			1	2	3	1.998468	O94933	SLIK3_HUMAN		2	2251	-			Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	1	1	hg19	c.1808G>A	CCDS3197.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.60	2.584322	0.46110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.7	5.7	0.88788	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.70692	0.3253	M	0.90019	3.08	0.48571	D	0.999676	D	0.76494	0.999	P	0.61722	0.893	T	0.76438	-0.2959	10	0.87932	D	0	-16.8764	13.0864	0.59142	0.0:0.9257:0.0:0.0743	.	603	O94933	SLIK3_HUMAN	H	603	ENSP00000420091:R603H;ENSP00000241274:R603H	ENSP00000241274:R603H	R	-	2	0	0	SLITRK3	166389505	166389505	0.999000	0.42202	0.998000	0.56505	0.383000	0.30230	3.207000	0.51106	2.836000	0.97738	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.548859	1	0.170000	NM_014926			47	46		197	193	1		1	0		0	0	45	0		1	9.976854e-02	0	0	0	3	0	47	197
BCHE	590	broad.mit.edu	37	3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	601					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)			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)	AATTAGAGACCCACACAACTT	0.333																																						ENST00000264381.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				55						c.(1801-1803)Ggt>Agt		butyrylcholinesterase	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)						105.0	102.0	103.0					3																	165491178		2201	4298	6499	SO:0001583	missense	590	0	0					g.chr3:165491178C>T	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.1801G>A	chr3.hg19:g.165491178C>T	ENSP00000264381:p.Gly601Ser	0					BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	p.G601S	NM_000055.2	NP_000046.1	1	2	3	1.998468	P06276	CHLE_HUMAN		4	1967	-			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	1	1	hg19	c.1801G>A	CCDS3198.1	1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187387	0.57909	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.78003	-0.12;-1.14;-1.12	5.18	5.18	0.71444	5.18	5.18	0.71444	Acetylcholinesterase, tetramerisation (2);	0.455528	0.22190	N	0.063389	T	0.73233	0.3561	L	0.45581	1.43	0.42790	D	0.993894	B	0.14805	0.011	B	0.18263	0.021	T	0.67530	-0.5647	10	0.25751	T	0.34	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	601	P06276	CHLE_HUMAN	S	601;131;63	ENSP00000264381:G601S;ENSP00000418325:G131S;ENSP00000443583:G63S	ENSP00000264381:G601S	G	-	1	0	0	BCHE	166973872	166973872	1.000000	0.71417	0.500000	0.27589	0.988000	0.76386	4.683000	0.61679	2.552000	0.86080	0.650000	0.86243	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				25	24		97	96	1		1	0		0	0	26	0		9.999999e-01	4.529032e-02	0	0	0	2	0	25	97
BCHE	590	broad.mit.edu	37	3	165504015	165504015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	534					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)			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)	TTCTTGTTGACTCTGTATTCA	0.358																																						ENST00000264381.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				55						c.(1600-1602)gaG>gaA		butyrylcholinesterase	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)						153.0	140.0	144.0					3																	165504015		2203	4299	6502	SO:0001819	synonymous_variant	590	0	0					g.chr3:165504015C>T	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.1602G>A	chr3.hg19:g.165504015C>T		0					BCHE_ENST00000540653.1_5'UTR	p.E534E	NM_000055.2	NP_000046.1	1	2	3	1.998468	P06276	CHLE_HUMAN		3	1768	-			A8K7P8	Silent	SNP	ENST00000264381.3	1	1	hg19	c.1602G>A	CCDS3198.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				34	34		179	173	1		1	0		0	0	41	0		1	3.194299e-01	0	0	0	7	0	34	179
BCHE	590	broad.mit.edu	37	3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	446			F -> S (in BChE deficiency). {ECO:0000269|PubMed:7634491, ECO:0000269|PubMed:9191541}.		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)			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)	AAATAGTAGAAAAAGGCATTA	0.438																																						ENST00000264381.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1336-1338)Ttc>Gtc		butyrylcholinesterase	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)						99.0	104.0	102.0					3																	165547486		2203	4300	6503	SO:0001583	missense	590	0	0					g.chr3:165547486A>C	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.1336T>G	chr3.hg19:g.165547486A>C	ENSP00000264381:p.Phe446Val	0					BCHE_ENST00000540653.1_Intron	p.F446V	NM_000055.2	NP_000046.1	1	2	3	1.998468	P06276	CHLE_HUMAN		2	1502	-			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	1	1	hg19	c.1336T>G	CCDS3198.1	1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947231	0.18356	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.52	5.52	0.82312	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.082823	0.64402	D	0.000001	T	0.50803	0.1637	N	0.13043	0.29	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.45425	-0.9262	10	0.25106	T	0.35	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	446	P06276	CHLE_HUMAN	V	446	ENSP00000264381:F446V	ENSP00000264381:F446V	F	-	1	0	0	BCHE	167030180	167030180	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.997000	0.49457	2.105000	0.64084	0.482000	0.46254	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000				95	93		512	500	1		1	0		0	0	101	0		1	3.666898e-01	0	0	0	8	0	95	512
ZBBX	79740	broad.mit.edu	37	3	167031904	167031904	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392767.2_Splice_Site_p.S425R|ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000455345.2_Splice_Site_p.S425R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	425						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279																																						ENST00000392766.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1273-1275)agT>agG		zinc finger, B-box domain containing							84.0	75.0	78.0					3																	167031904		1813	4071	5884	SO:0001630	splice_region_variant	79740	0	0					g.chr3:167031904A>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1275-1T>G	chr3.hg19:g.167031904A>C		0					ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000455345.2_Splice_Site_p.S425R|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R	p.S425R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	1	2	3	1.998468	A8MT70	ZBBX_HUMAN		16	1615	-			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	1	0	hg19	c.1275T>G	CCDS3199.2	1	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311074	0.10789	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15256	2.62;2.62;2.64;2.64;2.44	5.29	4.1	0.47936	5.29	4.1	0.47936	.	0.565498	0.19403	N	0.115122	T	0.15478	0.0373	L	0.41824	1.3	0.30198	N	0.798877	P;B	0.39157	0.662;0.21	B;B	0.38655	0.278;0.144	T	0.06391	-1.0829	10	0.87932	D	0	.	9.318	0.37946	0.8187:0.1813:0.0:0.0	.	425;425	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	425;425;425;425;396	ENSP00000376519:S425R;ENSP00000376520:S425R;ENSP00000390232:S425R;ENSP00000305065:S425R;ENSP00000376517:S396R	ENSP00000305065:S425R	S	-	3	2	2	ZBBX	168514598	168514598	0.501000	0.26099	0.643000	0.29450	0.011000	0.07611	0.742000	0.26216	0.911000	0.36747	0.533000	0.62120	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-19.999990	1	0.170000	NM_024687	Missense_Mutation		46	46		222	218	1		1			0	0	56	0		1	0	0	0	0	0	0	46	222
ZBBX	79740	broad.mit.edu	37	3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	102						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254																																						ENST00000392766.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999467	0.990000	1.000000																										0				70						c.(304-306)Ctg>Atg		zinc finger, B-box domain containing							37.0	38.0	38.0					3																	167078481		1778	4036	5814	SO:0001583	missense	79740	0	0					g.chr3:167078481G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.304C>A	chr3.hg19:g.167078481G>T	ENSP00000376519:p.Leu102Met	0					ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M	p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	1	2	3	1.998468	A8MT70	ZBBX_HUMAN		7	644	-			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	1	1	hg19	c.304C>A	CCDS3199.2	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752272	0.49362	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	2.36;2.36;2.37;2.37;2.19;1.02	5.71	3.92	0.45320	5.71	3.92	0.45320	.	.	.	.	.	T	0.59142	0.2172	M	0.66939	2.045	0.32798	N	0.500289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67647	-0.5617	9	0.66056	D	0.02	-2.8561	8.7091	0.34374	0.1735:0.0:0.8265:0.0	.	102;102	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	102;102;102;102;73;102	ENSP00000376519:L102M;ENSP00000376520:L102M;ENSP00000390232:L102M;ENSP00000305065:L102M;ENSP00000376517:L73M;ENSP00000419307:L102M	ENSP00000305065:L102M	L	-	1	2	2	ZBBX	168561175	168561175	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.899000	0.56288	0.887000	0.36136	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.254	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_024687			21	21		121	119	1		1			0	0	40	0		9.999984e-01	0	0	0	0	0	0	21	121
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					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)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323																																						ENST00000476257.1	1.000000	0.660000	1	9.100000e-01	0.990000	0.961433	0.990000	1.000000																										0				41						c.(1201-1203)Gat>Tat		serpin peptidase inhibitor, clade I (pancpin), member 2							131.0	120.0	124.0					3																	167159914		2203	4299	6502	SO:0001583	missense	5276	0	0					g.chr3:167159914C>A	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.1201G>T	chr3.hg19:g.167159914C>A	ENSP00000420621:p.Asp401Tyr	0					SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y	p.D401Y			1	2	3	1.998468	O75830	SPI2_HUMAN		10	1499	-				Missense_Mutation	SNP	ENST00000476257.1	1	1	hg19	c.1201G>T	CCDS3200.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121718	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.102307	0.64402	D	0.000004	D	0.90648	0.7067	L	0.54323	1.7	0.45239	D	0.998244	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90775	0.4675	10	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	401;401	B4DDY9;O75830	.;SPI2_HUMAN	Y	401	ENSP00000420621:D401Y;ENSP00000417692:D401Y;ENSP00000264677:D401Y;ENSP00000419407:D401Y	ENSP00000264677:D401Y	D	-	1	0	0	SERPINI2	168642608	168642608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.130000	0.57964	2.885000	0.99019	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-17.383660	1	0.170000	NM_006217			11	11		97	97	0		1	0		0	0	27	0		9.986260e-01	9.277971e-01	0	0	0	43	0	11	97
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343																																						ENST00000308378.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1297-1299)cGa>cAa		WD repeat domain 49							96.0	92.0	93.0					3																	167246892		2203	4300	6503	SO:0001583	missense	151790	1	121368	29				g.chr3:167246892C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1298G>A	chr3.hg19:g.167246892C>T	ENSP00000311343:p.Arg433Gln	0					WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	p.R433Q	NM_178824.3	NP_849146.1	1	2	3	1.998468	Q8IV35	WDR49_HUMAN		10	1603	-			Q8N297	Missense_Mutation	SNP	ENST00000308378.3	1	1	hg19	c.1298G>A	CCDS3201.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.267|0.267	-0.995346|-0.995346	0.02145|0.02145	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41400	.|1.55;1.29;1.0	5.52|5.52	-3.01|-3.01	0.05463|0.05463	5.52|5.52	-3.01|-3.01	0.05463|0.05463	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.026120	.|0.07712	.|N	.|0.942286	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.16201|0.16201	0.385|0.385	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.18166	.|0.026;0.005	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	5|10	.|0.02654	.|T	.|1	.|.	13.1587|13.1587	0.59533|0.59533	0.0:0.2771:0.0:0.7229|0.0:0.2771:0.0:0.7229	.|.	.|497;433	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	N|Q	509;71|433;258;497	.|ENSP00000311343:R433Q;ENSP00000420508:R258Q;ENSP00000410863:R497Q	.|ENSP00000311343:R433Q	D|R	-|-	1|2	0|0	0|0	WDR49|WDR49	168729586|168729586	168729586|168729586	0.671000|0.671000	0.27521|0.27521	0.106000|0.106000	0.21319|0.21319	0.317000|0.317000	0.28152|0.28152	-0.169000|-0.169000	0.09911|0.09911	-0.473000|-0.473000	0.06871|0.06871	-0.253000|-0.253000	0.11424|0.11424	GAT|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.376977	1	0.170000	NM_178824			54	54		225	223	1		1			0	0	63	0		1	0	0	0	0	0	0	54	225
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000479765.1_Silent_p.L429L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388																																						ENST00000308378.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(262-264)ctC>ctA		WD repeat domain 49							61.0	58.0	59.0					3																	167293928		2203	4300	6503	SO:0001819	synonymous_variant	151790	0	0					g.chr3:167293928G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.264C>A	chr3.hg19:g.167293928G>T		0					WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank	p.L88L	NM_178824.3	NP_849146.1	1	2	3	1.998468	Q8IV35	WDR49_HUMAN		4	569	-			Q8N297	Silent	SNP	ENST00000308378.3	1	1	hg19	c.264C>A	CCDS3201.1	1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	0	WDR49	168776622	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_178824			39	39		166	161	0		1			0	0	32	0		1	0	0	0	0	0	0	39	166
SERPINI1	5274	broad.mit.edu	37	3	167508215	167508215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	102					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)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAAGAGAGCCAATATGTGA	0.328																																						ENST00000295777.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				20						c.(304-306)agC>agT		serpin peptidase inhibitor, clade I (neuroserpin), member 1							88.0	90.0	89.0					3																	167508215		2203	4300	6503	SO:0001819	synonymous_variant	5274	0	0					g.chr3:167508215C>T	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.306C>T	chr3.hg19:g.167508215C>T		0					SERPINI1_ENST00000446050.2_Silent_p.S102S	p.S102S	NM_005025.4	NP_005016.1	1	2	3	1.998468	Q99574	NEUS_HUMAN		3	737	+			A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	1	1	hg19	c.306C>T	CCDS3203.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-19.988670	1	0.170000				53	52		358	351	0		1	1		0	0	73	0		1	9.748598e-01	0	2	0	40	0	53	358
GOLIM4	27333	broad.mit.edu	37	3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000470487.1	-	11	2199	c.1510G>T	c.(1510-1512)Gga>Tga	p.G504*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	504	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACCACCTCCTTCCTCTCCT	0.373																																						ENST00000470487.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1510-1512)Gga>Tga		golgi integral membrane protein 4							125.0	108.0	114.0					3																	167747014		2203	4300	6503	SO:0001587	stop_gained	27333	0	0					g.chr3:167747014C>A	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.1510G>T	chr3.hg19:g.167747014C>A	ENSP00000417354:p.Gly504*	0					GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	p.G504*	NM_014498.3	NP_055313.1	1	2	3	1.998468	O00461	GOLI4_HUMAN		11	2199	-				Nonsense_Mutation	SNP	ENST00000470487.1	0	1	hg19	c.1510G>T	CCDS3204.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.814472	0.99605	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.253136	0.39615	N	0.001302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	504;476	.	ENSP00000309893:G476X	G	-	1	0	0	GOLIM4	169229708	169229708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.325000	0.78763	0.549000	0.68633	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.640115	1	0.170000				65	64		234	227	0		1	1		0	0	68	0		1	1	0	6	0	360	0	65	234
MECOM	2122	broad.mit.edu	37	3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T	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)			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						CTGTGTAACGGCTGCTTAAGT	0.388																																						ENST00000464456.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				85						c.(2968-2970)Ccg>Acg		MDS1 and EVI1 complex locus							126.0	120.0	122.0					3																	168806814		2203	4300	6503	SO:0001583	missense	2122	0	0					g.chr3:168806814G>T	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.2968C>A	chr3.hg19:g.168806814G>T	ENSP00000419770:p.Pro990Thr	0					MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T	p.P990T	NM_001164000.1	NP_001157472.1	1	2	3	1.998468	Q13465	MDS1_HUMAN		14	4168	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	1	1	hg19	c.2968C>A	CCDS54669.1	1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399013	0.01165	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04049	3.78;3.78;3.73;3.88;3.73;3.78;3.72;3.88	5.63	4.75	0.60458	5.63	4.75	0.60458	.	0.188744	0.37857	N	0.001913	T	0.02230	0.0069	N	0.03154	-0.405	0.54753	D	0.999988	B;B;B;B;B	0.31193	0.312;0.028;0.208;0.069;0.017	B;B;B;B;B	0.25884	0.064;0.027;0.029;0.043;0.012	T	0.39663	-0.9603	10	0.02654	T	1	-3.2994	16.4979	0.84250	0.0:0.0:0.8684:0.1316	.	1187;991;1178;1064;999	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1064;999;990;1000;1178;999;990;1000	ENSP00000264674:P1064T;ENSP00000376493:P999T;ENSP00000419770:P990T;ENSP00000420048:P1000T;ENSP00000417899:P1178T;ENSP00000419995:P999T;ENSP00000420466:P990T;ENSP00000394302:P1000T	ENSP00000264674:P1064T	P	-	1	0	0	MECOM	170289508	170289508	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	6.803000	0.75180	1.502000	0.48669	0.655000	0.94253	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_005241, NM_004991			64	61		388	383	1		1	1		0	0	100	0		1	1	0	68	0	97	0	64	388
MECOM	2122	broad.mit.edu	37	3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000472280.1_Missense_Mutation_p.A936T	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)			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						ATCTCCAGGGCACTGGTTTCT	0.438																																						ENST00000464456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2776-2778)Gcc>Acc		MDS1 and EVI1 complex locus							208.0	196.0	200.0					3																	168807822		2203	4300	6503	SO:0001583	missense	2122	0	0					g.chr3:168807822C>T	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.2776G>A	chr3.hg19:g.168807822C>T	ENSP00000419770:p.Ala926Thr	0					MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T	p.A926T	NM_001164000.1	NP_001157472.1	1	2	3	1.998468	Q13465	MDS1_HUMAN		13	3976	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	1	1	hg19	c.2776G>A	CCDS54669.1	1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006924	0.07866	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.5;3.5;3.47;3.6;3.46;3.5;3.47;3.6	5.46	1.75	0.24633	5.46	1.75	0.24633	.	1.124900	0.06634	N	0.759856	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	1.011	9.325	0.37988	0.0:0.5529:0.0:0.4471	.	1123;927;1114;1000;935	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1000;935;926;936;1114;935;926;936	ENSP00000264674:A1000T;ENSP00000376493:A935T;ENSP00000419770:A926T;ENSP00000420048:A936T;ENSP00000417899:A1114T;ENSP00000419995:A935T;ENSP00000420466:A926T;ENSP00000394302:A936T	ENSP00000264674:A1000T	A	-	1	0	0	MECOM	170290516	170290516	0.040000	0.19996	0.003000	0.11579	0.000000	0.00434	0.015000	0.13355	0.043000	0.15746	-0.827000	0.03088	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_005241, NM_004991			106	105		513	503	1		1	1		0	0	117	0		1	1	0	58	0	92	0	106	513
MECOM	2122	broad.mit.edu	37	3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000472280.1_Missense_Mutation_p.P719S	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)			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						AGGGCATTGGGAGGCGCCCTG	0.512																																						ENST00000464456.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000																										0				85						c.(2125-2127)Ccc>Tcc		MDS1 and EVI1 complex locus							75.0	70.0	72.0					3																	168819903		2203	4300	6503	SO:0001583	missense	2122	0	0					g.chr3:168819903G>A	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.2125C>T	chr3.hg19:g.168819903G>A	ENSP00000419770:p.Pro709Ser	0					MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S	p.P709S	NM_001164000.1	NP_001157472.1	1	2	3	1.998468	Q13465	MDS1_HUMAN		9	3325	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	1	1	hg19	c.2125C>T	CCDS54669.1	1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562745	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.21;3.21;3.12;3.31;3.12;3.21;3.11;3.31	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.088883	0.49916	D	0.000133	T	0.04770	0.0129	N	0.14661	0.345	0.52099	D	0.999948	B;B;B;B;B	0.16166	0.016;0.013;0.005;0.016;0.009	B;B;B;B;B	0.17722	0.019;0.007;0.008;0.01;0.004	T	0.17745	-1.0359	10	0.02654	T	1	-11.5724	12.9639	0.58473	0.074:0.0:0.926:0.0	.	906;710;897;783;718	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	783;718;709;719;897;718;709;719	ENSP00000264674:P783S;ENSP00000376493:P718S;ENSP00000419770:P709S;ENSP00000420048:P719S;ENSP00000417899:P897S;ENSP00000419995:P718S;ENSP00000420466:P709S;ENSP00000394302:P719S	ENSP00000264674:P783S	P	-	1	0	0	MECOM	170302597	170302597	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.367000	0.73099	2.730000	0.93505	0.655000	0.94253	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.148409	1	0.170000	NM_005241, NM_004991			35	33		209	204	1		1	1		0	0	55	0		1	9.999579e-01	0	37	0	58	0	35	209
MECOM	2122	broad.mit.edu	37	3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000472280.1_Missense_Mutation_p.A596D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	5					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TGTCCCACTGGCTCTACTCCT	0.532																																						ENST00000464456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1783-1785)gCc>gAc		MDS1 and EVI1 complex locus							149.0	138.0	142.0					3																	168833312		2203	4300	6503	SO:0001583	missense	2122	0	0					g.chr3:168833312G>T	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.1784C>A	chr3.hg19:g.168833312G>T	ENSP00000419770:p.Ala595Asp	0					MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D	p.A595D	NM_001164000.1	NP_001157472.1	1	2	3	1.998468	Q13465	MDS1_HUMAN		7	2984	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	1	1	hg19	c.1784C>A	CCDS54669.1	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814546	0.50527	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.08458	3.38;3.37;3.34;3.48;3.32;3.37;3.33;3.48;3.09	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.343104	0.21326	N	0.076363	T	0.21921	0.0528	L	0.49350	1.555	0.51012	D	0.999901	D;D;D;D;P	0.60575	0.988;0.985;0.98;0.985;0.932	P;P;P;P;P	0.57776	0.827;0.775;0.696;0.775;0.454	T	0.00071	-1.2131	10	0.46703	T	0.11	-9.0053	19.6299	0.95698	0.0:0.0:1.0:0.0	.	783;596;783;660;595	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	660;595;595;596;783;595;595;596;246	ENSP00000264674:A660D;ENSP00000376493:A595D;ENSP00000419770:A595D;ENSP00000420048:A596D;ENSP00000417899:A783D;ENSP00000419995:A595D;ENSP00000420466:A595D;ENSP00000394302:A596D;ENSP00000417506:A246D	ENSP00000264674:A660D	A	-	2	0	0	MECOM	170316006	170316006	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.709000	0.68384	2.639000	0.89480	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-20.000000	1	0.170000	NM_005241, NM_004991			74	65		274	262	1		1	1		0	0	64	0		1	1	0	65	0	84	0	74	274
MECOM	2122	broad.mit.edu	37	3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000472280.1_Missense_Mutation_p.V364I	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)			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						TTGTCCCCTACAGATGGGTGT	0.473																																						ENST00000464456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1087-1089)Gta>Ata		MDS1 and EVI1 complex locus							418.0	351.0	373.0					3																	168834009		2203	4300	6503	SO:0001583	missense	2122	16	121412	44				g.chr3:168834009C>T	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.1087G>A	chr3.hg19:g.168834009C>T	ENSP00000419770:p.Val363Ile	0					MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I	p.V363I	NM_001164000.1	NP_001157472.1	1	2	3	1.998468	Q13465	MDS1_HUMAN		7	2287	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	1	1	hg19	c.1087G>A	CCDS54669.1	1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851529	0.17034	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.5;3.5;3.46;3.6;3.45;3.5;3.45;3.6	6.03	5.15	0.70609	6.03	5.15	0.70609	.	0.000000	0.44688	D	0.000431	T	0.05960	0.0155	L	0.34521	1.04	0.29860	N	0.827733	B;B;B;B;B	0.13594	0.008;0.002;0.005;0.004;0.0	B;B;B;B;B	0.12156	0.007;0.007;0.003;0.005;0.001	T	0.10337	-1.0634	10	0.37606	T	0.19	-6.5751	9.695	0.40152	0.0:0.7931:0.0:0.2069	.	551;364;551;428;363	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	428;363;363;364;551;363;363;364	ENSP00000264674:V428I;ENSP00000376493:V363I;ENSP00000419770:V363I;ENSP00000420048:V364I;ENSP00000417899:V551I;ENSP00000419995:V363I;ENSP00000420466:V363I;ENSP00000394302:V364I	ENSP00000264674:V428I	V	-	1	0	0	MECOM	170316703	170316703	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	1.131000	0.31406	1.558000	0.49541	0.655000	0.94253	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_005241, NM_004991			89	88		353	345	1		1	1		0	0	90	0		1	9.999995e-01	0	38	0	47	0	89	353
MECOM	2122	broad.mit.edu	37	3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	6					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TTTCCTTGCCCTGCCTTTGGA	0.532																																						ENST00000494292.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999373	0.990000	1.000000																										0				85						c.(16-18)aGg>aAg		MDS1 and EVI1 complex locus							94.0	107.0	103.0					3																	169381144		2024	4178	6202	SO:0001583	missense	2122	0	0					g.chr3:169381144C>T	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	ENST00000494292.1:c.17G>A	chr3.hg19:g.169381144C>T	ENSP00000417899:p.Arg6Lys	0					MECOM_ENST00000485957.1_5'UTR	p.R6K	NM_004991.3	NP_004982.2	1	2	3	1.998468	Q13465	MDS1_HUMAN		1	114	-			Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	0	1	hg19	c.17G>A		1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338064	0.81911	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.06608	3.28	4.75	4.75	0.60458	4.75	4.75	0.60458	.	.	.	.	.	T	0.19087	0.0458	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.83275	0.996;0.953	T	0.00958	-1.1500	9	0.87932	D	0	.	18.135	0.89616	0.0:1.0:0.0:0.0	.	6;6	Q13465;Q03112-3	MDS1_HUMAN;.	K	6	ENSP00000417899:R6K	ENSP00000419537:R6K	R	-	2	0	0	MECOM	170863838	170863838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.370000	0.80446	0.455000	0.32223	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.999990	1	0.170000	NM_005241, NM_004991			14	14		64	60	1		1	1		0	0	11	0		9.997802e-01	9.994004e-01	0	36	0	28	0	14	64
MYNN	55892	broad.mit.edu	37	3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000392733.1_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158					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)			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)			AAATCAGAAGTATCTACAGAT	0.363																																						ENST00000349841.5	1.000000	0.250000	7.300000e-01	3.600000e-01	0.510000	0.552223	0.510000	0.480000																										0				16						c.(472-474)gTa>gCa		myoneurin							47.0	50.0	49.0					3																	169496762		2203	4300	6503	SO:0001583	missense	55892	0	0					g.chr3:169496762T>C	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.473T>C	chr3.hg19:g.169496762T>C	ENSP00000326240:p.Val158Ala	0					MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A	p.V158A	NM_018657.4	NP_061127.1	1	2	3	1.998468	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)	3	1136	+	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)		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	1	1	hg19	c.473T>C	CCDS3207.1	0	.	.	.	.	.	.	.	.	.	.	T	1.054	-0.674914	0.03378	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09163	3.19;3.19;3.01;3.01	5.35	-1.78	0.07957	5.35	-1.78	0.07957	.	0.717193	0.13188	N	0.407007	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42716	-0.9435	10	0.09338	T	0.73	.	1.5239	0.02521	0.1183:0.2205:0.2597:0.4016	.	158;158	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	158	ENSP00000349150:V158A;ENSP00000326240:V158A;ENSP00000376492:V158A;ENSP00000440637:V158A	ENSP00000326240:V158A	V	+	2	0	0	MYNN	170979456	170979456	0.035000	0.19736	0.322000	0.25334	0.931000	0.56810	0.174000	0.16743	-0.229000	0.09854	0.528000	0.53228	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	0	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-11.688380	1	0.170000	NM_018657			9	9		209	205	0		1	1		0	0	51	0		9.938891e-01	7.841236e-01	0	3	0	66	0	9	209
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607																																						ENST00000340806.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(763-765)Gag>Aag		leucine-rich repeats and IQ motif containing 4							33.0	36.0	35.0					3																	169540472		1994	4159	6153	SO:0001583	missense	344657	5	120908	36				g.chr3:169540472G>A		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.763G>A	chr3.hg19:g.169540472G>A	ENSP00000342188:p.Glu255Lys	0						p.E255K	NM_001080460.1	NP_001073929.1	1	2	3	1.998468	A6NIV6	LRIQ4_HUMAN		1	763	+				Missense_Mutation	SNP	ENST00000340806.6	1	1	hg19	c.763G>A	CCDS46951.1	1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	0	LRRIQ4	171023166	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	0	0	1		14	2	2	1		1	1	60		60	59	1	2.060000	-3.488497	1	0.170000	NM_001080460			44	44		192	187	1		1			1	0	60	0		9.999930e-01	0	0	0	0	0	0	44	192
LRRIQ4	344657	broad.mit.edu	37	3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438																																						ENST00000340806.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999855	0.990000	1.000000																										0				30						c.(1282-1284)tgC>tgA		leucine-rich repeats and IQ motif containing 4							76.0	75.0	76.0					3																	169548369		1889	4107	5996	SO:0001587	stop_gained	344657	0	0					g.chr3:169548369C>A		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.1284C>A	chr3.hg19:g.169548369C>A	ENSP00000342188:p.Cys428*	0						p.C428*	NM_001080460.1	NP_001073929.1	1	2	3	1.998468	A6NIV6	LRIQ4_HUMAN		3	1284	+				Nonsense_Mutation	SNP	ENST00000340806.6	0	1	hg19	c.1284C>A	CCDS46951.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.494819	0.96339	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	2.04	0.26737	5.69	2.04	0.26737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.228	0.26026	0.0:0.5221:0.0:0.4779	.	.	.	.	X	428	.	ENSP00000342188:C428X	C	+	3	2	2	LRRIQ4	171031063	171031063	0.877000	0.30153	0.994000	0.49952	0.959000	0.62525	-0.176000	0.09811	0.547000	0.28938	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.295846	1	0.170000	NM_001080460			22	22		113	113	1		1			0	0	23	0		9.999994e-01	0	0	0	0	0	0	22	113
PHC3	80012	broad.mit.edu	37	3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000494943.1	-	8	1423	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	PHC3_ENST00000467570.1_Missense_Mutation_p.L411R|PHC3_ENST00000495893.2_Missense_Mutation_p.L464R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	452	Gln-rich.|Pro-rich.				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)			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)			ATGGGATGGAAGATTCAACTG	0.522																																						ENST00000494943.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1354-1356)cTt>cGt		polyhomeotic homolog 3 (Drosophila)							63.0	65.0	64.0					3																	169846869		2085	4211	6296	SO:0001583	missense	80012	0	0					g.chr3:169846869A>C		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.1355T>G	chr3.hg19:g.169846869A>C	ENSP00000420271:p.Leu452Arg	0					PHC3_ENST00000495893.2_Missense_Mutation_p.L464R|PHC3_ENST00000467570.1_Missense_Mutation_p.L411R	p.L452R			1	2	3	1.998468	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)	8	1423	-	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)		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	1	1	hg19	c.1355T>G		1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434475	0.43224	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.4	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000023	T	0.47395	0.1443	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;P;D	0.66351	0.943;0.943;0.878;0.943	T	0.27872	-1.0061	10	0.15952	T	0.53	-11.6484	14.6811	0.69017	1.0:0.0:0.0:0.0	.	411;411;452;464	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	452;464;411	ENSP00000420271:L452R;ENSP00000420294:L464R	ENSP00000419089:L411R	L	-	2	0	0	PHC3	171329563	171329563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.039000	0.60335	0.460000	0.39030	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_024947			27	27		88	85	1		1	1		0	0	23	0		1	9.999521e-01	0	11	0	46	0	27	88
PHC3	80012	broad.mit.edu	37	3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000494943.1	-	3	327	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000495893.2_Missense_Mutation_p.H99Y|PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	87					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)			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)			CTGCTTAAATGCTGCTGCTGA	0.468																																						ENST00000494943.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(259-261)Cat>Tat		polyhomeotic homolog 3 (Drosophila)							74.0	73.0	73.0					3																	169890386		1923	4134	6057	SO:0001583	missense	80012	0	0					g.chr3:169890386G>A		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.259C>T	chr3.hg19:g.169890386G>A	ENSP00000420271:p.His87Tyr	0					PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000495893.2_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y	p.H87Y			1	2	3	1.998468	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)	3	327	-	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)		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	1	1	hg19	c.259C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682923	0.47991	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.46451	0.87;0.89	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.64962	0.2646	M	0.69358	2.11	0.58432	D	0.99999	D;D;D;D;D;P;D;D	0.67145	0.989;0.989;0.981;0.989;0.996;0.908;0.989;0.989	D;D;D;D;D;D;D;D	0.78314	0.969;0.979;0.954;0.979;0.991;0.922;0.979;0.979	T	0.62006	-0.6945	9	.	.	.	-12.3087	19.8505	0.96738	0.0:0.0:1.0:0.0	.	99;99;87;99;95;83;99;99	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	Y	87;99;99;99;99;99;83;99;99;95	ENSP00000420271:H87Y;ENSP00000420294:H99Y	.	H	-	1	0	0	PHC3	171373080	171373080	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.893000	0.92498	2.688000	0.91661	0.655000	0.94253	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_024947			71	71		251	250	1		1	1		0	0	81	0		1	9.995176e-01	0	5	0	38	0	71	251
PRKCI	5584	broad.mit.edu	37	3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	163	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CGAATATGGGGACTTGGACGC	0.418																																						ENST00000295797.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(487-489)gGa>gAa		protein kinase C, iota	Tamoxifen(DB00675)						123.0	112.0	116.0					3																	169988246		2203	4300	6503	SO:0001583	missense	5584	0	0					g.chr3:169988246G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.488G>A	chr3.hg19:g.169988246G>A	ENSP00000295797:p.Gly163Glu	0						p.G163E	NM_002740.5	NP_002731.4	1	2	3	1.998468	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	6	793	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	1	1	hg19	c.488G>A	CCDS3212.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000163558	ENST00000295797	D	0.93659	-3.26	5.41	5.41	0.78517	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	9	.	.	.	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	163	P41743	KPCI_HUMAN	E	163	ENSP00000295797:G163E	.	G	+	2	0	0	PRKCI	171470940	171470940	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.847000	0.99503	2.695000	0.91970	0.591000	0.81541	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.330741	1	0.170000	NM_002740			74	72		378	369	1		1	1		0	0	88	0		1	9.999201e-01	0	18	0	54	0	74	378
PRKCI	5584	broad.mit.edu	37	3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AATTTATAGAGATTTGAAACT	0.308																																						ENST00000295797.4	1.000000	0.360000	8.500000e-01	4.900000e-01	0.640000	0.668113	0.640000	1.000000																										0				36						c.(1132-1134)Gat>Aat		protein kinase C, iota	Tamoxifen(DB00675)						60.0	61.0	61.0					3																	170002313		2203	4299	6502	SO:0001583	missense	5584	0	0					g.chr3:170002313G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1132G>A	chr3.hg19:g.170002313G>A	ENSP00000295797:p.Asp378Asn	0						p.D378N	NM_002740.5	NP_002731.4	1	2	3	1.998468	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	12	1437	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	1	1	hg19	c.1132G>A	CCDS3212.2	0	.	.	.	.	.	.	.	.	.	.	G	33	5.260702	0.95368	.	.	ENSG00000163558	ENST00000295797	D	0.92965	-3.14	5.34	5.34	0.76211	5.34	5.34	0.76211	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	0.96809	0.8958	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	9	.	.	.	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	378	P41743	KPCI_HUMAN	N	378	ENSP00000295797:D378N	.	D	+	1	0	0	PRKCI	171485007	171485007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.642000	0.89623	0.650000	0.86243	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.149666	1	0.170000	NM_002740			14	14		252	250	1		1	1		0	0	67	0		9.997644e-01	8.399190e-01	0	6	0	56	0	14	252
PRKCI	5584	broad.mit.edu	37	3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CAGCACTTTCTGTGGTACTCC	0.333																																						ENST00000295797.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1240-1242)Tgt>Cgt		protein kinase C, iota	Tamoxifen(DB00675)						59.0	60.0	60.0					3																	170009678		2203	4296	6499	SO:0001583	missense	5584	0	0					g.chr3:170009678T>C		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1240T>C	chr3.hg19:g.170009678T>C	ENSP00000295797:p.Cys414Arg	0						p.C414R	NM_002740.5	NP_002731.4	1	2	3	1.998468	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	13	1545	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	1	1	hg19	c.1240T>C	CCDS3212.2	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157508	0.78114	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.21	5.21	0.72293	5.21	5.21	0.72293	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	0.83681	0.5307	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86293	0.1675	9	.	.	.	.	15.3646	0.74510	0.0:0.0:0.0:1.0	.	414	P41743	KPCI_HUMAN	R	414	ENSP00000295797:C414R	.	C	+	1	0	0	PRKCI	171492372	171492372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.078000	0.62432	0.482000	0.46254	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1		2	2	2	0		0	0	59		59	60	1	2.060000	-19.999960	1	0.170000	NM_002740			40	37		164	159	1		1	1		0	0	59	0		1	9.999471e-01	0	18	0	47	0	40	164
PLCL2	23228	broad.mit.edu	37	3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	497					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)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398																																						ENST00000418129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1111-1113)cGc>cAc		phospholipase C-like 2							106.0	97.0	100.0					3																	17052328		2203	4300	6503	SO:0001583	missense	23228	1	121412	21				g.chr3:17052328G>A	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.1112G>A	chr3.hg19:g.17052328G>A	ENSP00000409637:p.Arg371His	0					PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	p.R371H	NM_001144382.1	NP_001137854.1	1	2	3	1.998468	Q9UPR0	PLCL2_HUMAN		2	1577	+			A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	1	1	hg19	c.1112G>A	CCDS33713.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702685|2.702685	0.48307|0.48307	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.047783	.|0.85682	.|D	.|0.000000	T|T	0.60287|0.60287	0.2257|0.2257	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38455	.|0.632	.|B	.|0.34779	.|0.189	T|T	0.63629|0.63629	-0.6594|-0.6594	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|497	.|Q9UPR0	.|PLCL2_HUMAN	T|H	115|371;498;371;371	.|ENSP00000409637:R371H;ENSP00000379979:R371H;ENSP00000412836:R371H	.|ENSP00000285094:R498H	A|R	+|+	1|2	0|0	0|0	PLCL2|PLCL2	17027332|17027332	17027332|17027332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.148037	1	0.170000				70	70		322	320	1		1	0		0	0	74	0		1	9.683113e-01	0	1	0	27	0	70	322
SKIL	6498	broad.mit.edu	37	3	170108126	170108126	+	Silent	SNP	G	G	A	rs375044899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	ENST00000458537.3	+	4	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000413427.2_Silent_p.P469P|SKIL_ENST00000426052.2_Silent_p.P495P	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	515					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)			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)			CTTCATCTCCGCTTCTTGTGA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17784	0.0		0.0	False		,,,				2504	0.0					ENST00000458537.3	1.000000	0.280000	5.900000e-01	3.600000e-01	0.450000	0.494178	0.450000	0.440000																										0				25						c.(1543-1545)ccG>ccA		SKI-like proto-oncogene		G	,,	4,4402	8.1+/-20.4	0,4,2199	116.0	107.0	110.0		1407,1485,1545	-4.3	0.2	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SKIL	NM_001145097.1,NM_001145098.1,NM_005414.3	,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,	469/639,495/665,515/685	170108126	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6498	9	121412	44				g.chr3:170108126G>A	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.1545G>A	chr3.hg19:g.170108126G>A		0					SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	p.P515P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	1	2	3	1.998468	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	4	2254	+	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)		A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	1	1	hg19	c.1545G>A	CCDS33890.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.733883	1	0.170000	NM_005414			19	19		484	477	0		1	1		0	0	62	0		9.999897e-01	9.300460e-01	0	4	0	113	0	19	484
RPL22L1	200916	broad.mit.edu	37	3	170585924	170585924	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1						translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358																																						ENST00000295830.8	1.000000	0.480000	1	7.800000e-01	0.990000	0.922877	0.990000	1.000000																										0				4						c.e3-1		ribosomal protein L22-like 1							45.0	40.0	42.0					3																	170585924		1802	4060	5862	SO:0001630	splice_region_variant	200916	0	0					g.chr3:170585924C>A	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.103-1G>T	chr3.hg19:g.170585924C>A		0					RPL22L1_ENST00000463836.1_Splice_Site		NM_001099645.1	NP_001093115.1	1	2	3	1.998468	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)	3	418	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		Q32Q77	Splice_Site	SNP	ENST00000295830.8	0	1	hg19		CCDS46955.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494590	0.85069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RPL22L1	172068618	172068618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-5.526893	1	0.170000	XM_114317	Intron		5	5		45	45	1		1	1		0	0	13	0		9.409145e-01	9.990777e-01	0	92	0	66	0	5	45
TNIK	23043	broad.mit.edu	37	3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	449	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)			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)			TCTAACTGTCGCCTGATGTAT	0.468																																						ENST00000436636.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1345-1347)Cga>Tga		TRAF2 and NCK interacting kinase							162.0	150.0	154.0					3																	170857333		1929	4144	6073	SO:0001587	stop_gained	23043	0	0					g.chr3:170857333G>A	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.1345C>T	chr3.hg19:g.170857333G>A	ENSP00000399511:p.Arg449*	0					TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*	p.R449*	NM_015028.2	NP_055843.1	1	2	3	1.998468	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	14	1689	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	0	1	hg19	c.1345C>T	CCDS46956.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.242205	0.99111	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	.	.	.	5.63	4.72	0.59763	5.63	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.972	0.80027	0.0:0.0:0.8648:0.1352	.	.	.	.	X	449	.	ENSP00000284483:R449X	R	-	1	2	2	TNIK	172340027	172340027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.035000	0.64158	2.648000	0.89879	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	XM_039796			128	119		503	487	1		1	0		0	0	79	0		1	4.178689e-02	0	0	0	2	0	128	503
TNIK	23043	broad.mit.edu	37	3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	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)			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)			TCCTTCTCTCGCCTTTGTTGC	0.622																																						ENST00000436636.2	1.000000	0.710000	1	8.100000e-01	0.930000	0.918040	0.930000	1.000000																										0				62						c.(1231-1233)Cga>Tga		TRAF2 and NCK interacting kinase							70.0	75.0	74.0					3																	170858289		2005	4163	6168	SO:0001587	stop_gained	23043	0	0					g.chr3:170858289G>A	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.1231C>T	chr3.hg19:g.170858289G>A	ENSP00000399511:p.Arg411*	0					TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*	p.R411*	NM_015028.2	NP_055843.1	1	2	3	1.998468	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	13	1575	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	0	1	hg19	c.1231C>T	CCDS46956.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142123	0.77775	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.55	1.01	0.19927	5.55	1.01	0.19927	.	0.062787	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2317	0.43258	0.0:0.0959:0.3853:0.5188	.	.	.	.	X	411	.	ENSP00000284483:R411X	R	-	1	2	2	TNIK	172340983	172340983	0.996000	0.38824	0.942000	0.38095	0.233000	0.25261	1.042000	0.30303	0.243000	0.21327	-0.182000	0.12963	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	0	0	1		19	4	2	1		1	1	131		131	131	1	2.060000	-3.318794	1	0.170000	XM_039796			60	60		706	697	0		1	0		1	0	131	0		9.999995e-01	8.128012e-01	0	0	0	71	0	60	706
TBC1D5	9779	broad.mit.edu	37	3	17208310	17208310	+	Silent	SNP	G	G	T	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	681						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			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						CTCGGCCCTGGCCCTGGCCGC	0.517																																						ENST00000253692.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2041-2043)ggC>ggA		TBC1 domain family, member 5							95.0	86.0	89.0					3																	17208310		2203	4300	6503	SO:0001819	synonymous_variant	9779	0	0					g.chr3:17208310G>T	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.2043C>A	chr3.hg19:g.17208310G>T		0					TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000414318.2_5'UTR	p.G681G	NM_014744.2	NP_055559.1	1	2	3	1.998468	Q92609	TBCD5_HUMAN		21	3707	-			A6NP25|C9JP52	Silent	SNP	ENST00000253692.7	1	1	hg19	c.2043C>A	CCDS33714.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_014744			65	64		316	314	1		1	1		0	0	61	0		1	9.999264e-01	0	16	0	54	0	65	316
TNIK	23043	broad.mit.edu	37	3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)			TTTGATAAAAGCACCATAGTA	0.353																																						ENST00000436636.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(262-264)gCt>gAt		TRAF2 and NCK interacting kinase							120.0	117.0	118.0					3																	170928948		1831	4093	5924	SO:0001583	missense	23043	0	0					g.chr3:170928948G>T	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.263C>A	chr3.hg19:g.170928948G>T	ENSP00000399511:p.Ala88Asp	0					TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D	p.A88D	NM_015028.2	NP_055843.1	1	2	3	1.998468	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	4	607	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	1	1	hg19	c.263C>A	CCDS46956.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.314813	0.95655	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.16	6.16	0.99307	6.16	6.16	0.99307	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	0.82291	0.5005	M	0.66560	2.04	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	0.991;0.997;0.998;0.992;0.997;0.997;0.998;0.998	T	0.81854	-0.0741	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88;88;88	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	D	88;88;88;88;88;88;88;88;88;88;62	ENSP00000399511:A88D;ENSP00000358332:A88D;ENSP00000443278:A88D;ENSP00000345352:A88D;ENSP00000284483:A88D;ENSP00000418156:A88D;ENSP00000349880:A88D;ENSP00000418916:A88D;ENSP00000418378:A88D;ENSP00000419990:A88D;ENSP00000417338:A62D	ENSP00000284483:A88D	A	-	2	0	0	TNIK	172411642	172411642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	XM_039796			45	45		204	201	1		1	1		0	0	39	0		1	9.922888e-01	0	16	0	21	0	45	204
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	G	A	rs375246483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000538775.1_Silent_p.I307I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000273512.3_Silent_p.I299I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478																																						ENST00000475381.1	1.000000	0.370000	8.000000e-01	4.800000e-01	0.610000	0.643638	0.610000	0.590000																										0				15						c.(799-801)atC>atT		neutral cholesterol ester hydrolase 1							117.0	110.0	113.0					3																	172351691		2203	4300	6503	SO:0001819	synonymous_variant	57552	0	0					g.chr3:172351691G>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.801C>T	chr3.hg19:g.172351691G>A		0					NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I	p.I267I			1	2	3	1.998468	Q6PIU2	NCEH1_HUMAN		5	1034	-			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	1	1	hg19	c.801C>T		0	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457690	0.01071	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.61	-11.2	0.00127	5.61	-11.2	0.00127	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.30940	N	0.725957	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	-6.8028	4.8734	0.13644	0.2386:0.2399:0.4538:0.0677	.	.	.	.	L	298	.	.	S	-	2	0	0	NCEH1	173834385	173834385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.984000	0.01487	-4.969000	0.00025	-2.032000	0.00423	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.073168	1	0.170000	NM_020792			17	17		318	314	0		1	1		0	0	50	0		9.999648e-01	9.831855e-01	0	11	0	116	0	17	318
NCEH1	57552	broad.mit.edu	37	3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	107					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562																																						ENST00000475381.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(319-321)cGc>cAc		neutral cholesterol ester hydrolase 1							76.0	68.0	71.0					3																	172365723		2203	4300	6503	SO:0001583	missense	57552	1	121412	32				g.chr3:172365723C>T	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.320G>A	chr3.hg19:g.172365723C>T	ENSP00000418571:p.Arg107His	0					NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H	p.R107H			1	2	3	1.998468	Q6PIU2	NCEH1_HUMAN		2	553	-			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	1	1	hg19	c.320G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353719|3.353719	0.61293|0.61293	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512	.|T;T;T	.|0.58940	.|0.3;0.3;0.3	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.098474	.|0.64402	.|D	.|0.000003	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.68483	.|0.958;0.819	T|T	0.76170|0.76170	-0.3057|-0.3057	5|10	.|0.87932	.|D	.|0	-21.2305|-21.2305	13.348|13.348	0.60584|0.60584	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|139;107	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	T|H	130|107;139;139	.|ENSP00000418571:R107H;ENSP00000442464:R139H;ENSP00000273512:R139H	.|ENSP00000273512:R139H	A|R	-|-	1|2	0|0	0|0	NCEH1|NCEH1	173848417|173848417	173848417|173848417	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.020000|0.020000	0.10135|0.10135	4.529000|4.529000	0.60588|0.60588	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCA|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	1	0	0		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_020792			62	62		258	251	1		1	1		0	0	52	0		1	1	0	68	0	126	0	62	258
NCEH1	57552	broad.mit.edu	37	3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	95					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517																																						ENST00000475381.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(283-285)tTt>tGt		neutral cholesterol ester hydrolase 1							86.0	78.0	81.0					3																	172365759		2203	4300	6503	SO:0001583	missense	57552	0	0					g.chr3:172365759A>C	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.284T>G	chr3.hg19:g.172365759A>C	ENSP00000418571:p.Phe95Cys	0					NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C	p.F95C			1	2	3	1.998468	Q6PIU2	NCEH1_HUMAN		2	517	-			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	1	1	hg19	c.284T>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.12|18.12	3.553240|3.553240	0.65425|0.65425	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.095705|.	0.64402|.	D|.	0.000001|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.942|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|5	0.87932|.	D|.	0|.	-23.8409|-23.8409	12.1056|12.1056	0.53810|0.53810	0.8715:0.0:0.0:0.1285|0.8715:0.0:0.0:0.1285	.|.	127;95|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	C|V	95;127;127|118	ENSP00000418571:F95C;ENSP00000442464:F127C;ENSP00000273512:F127C|.	ENSP00000273512:F127C|.	F|L	-|-	2|1	0|2	0|2	NCEH1|NCEH1	173848453|173848453	173848453|173848453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	5.542000|5.542000	0.67218|0.67218	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	0	0	0		17	10	2	1		1	1	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_020792			54	54		286	276	1		1	1		1	0	66	0		9.999989e-01	9.995767e-01	0	46	0	115	0	54	286
ECT2	1894	broad.mit.edu	37	3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A	rs565477429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000392692.3	+	18	2041	c.1865G>A	c.(1864-1866)aGc>aAc	p.S622N	ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000417960.1_Missense_Mutation_p.S590N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000540509.1_Missense_Mutation_p.S622N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)			CCAGACAAAAGCACTTTAGAA	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16781	0.0		0.0	False		,,,				2504	0.0					ENST00000392692.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999542	0.990000	1.000000																										0				37						c.(1864-1866)aGc>aAc		epithelial cell transforming 2							72.0	72.0	72.0					3																	172504322		2202	4294	6496	SO:0001583	missense	1894	3	121386	29				g.chr3:172504322G>A	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.1865G>A	chr3.hg19:g.172504322G>A	ENSP00000376457:p.Ser622Asn	0					ECT2_ENST00000417960.1_Missense_Mutation_p.S590N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000540509.1_Missense_Mutation_p.S622N	p.S622N	NM_001258315.1	NP_001245244.1	1	2	3	1.998468	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)	18	2041	+	Ovarian(172;0.00197)|Breast(254;0.158)		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	1	1	hg19	c.1865G>A	CCDS58860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268507	0.23136	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.95	0.592	0.17471	5.95	0.592	0.17471	Dbl homology (DH) domain (2);	0.292888	0.43110	N	0.000613	T	0.33789	0.0875	N	0.17345	0.48	0.27977	N	0.936193	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.10450	0.002;0.003;0.005;0.005;0.003	T	0.03818	-1.1001	10	0.19147	T	0.46	-3.4038	0.7728	0.01027	0.3007:0.1087:0.3432:0.2474	.	622;67;622;591;590	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	N	591;622;591;590;591;622	ENSP00000232458:S591N;ENSP00000376457:S622N;ENSP00000401910:S591N;ENSP00000415876:S590N;ENSP00000412259:S591N;ENSP00000443160:S622N	ENSP00000232458:S591N	S	+	2	0	0	ECT2	173987016	173987016	0.832000	0.29368	1.000000	0.80357	0.992000	0.81027	0.481000	0.22260	0.432000	0.26286	-0.145000	0.13849	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-12.743060	1	0.170000	NM_018098			21	21		119	118	1		1	1		0	0	42	0		9.999985e-01	9.998387e-01	0	38	0	47	0	21	119
ECT2	1894	broad.mit.edu	37	3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000392692.3	+	21	2349	c.2173G>A	c.(2173-2175)Gct>Act	p.A725T	ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000417960.1_Missense_Mutation_p.A693T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	725	PH.				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)			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)			CCGACCCCCAGCTTCTCTTAA	0.403																																						ENST00000392692.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2173-2175)Gct>Act		epithelial cell transforming 2							63.0	65.0	65.0					3																	172523587		2203	4300	6503	SO:0001583	missense	1894	0	0					g.chr3:172523587G>A	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.2173G>A	chr3.hg19:g.172523587G>A	ENSP00000376457:p.Ala725Thr	0					ECT2_ENST00000417960.1_Missense_Mutation_p.A693T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T	p.A725T	NM_001258315.1	NP_001245244.1	1	2	3	1.998468	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)	21	2349	+	Ovarian(172;0.00197)|Breast(254;0.158)		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	1	1	hg19	c.2173G>A	CCDS58860.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695041|3.695041	0.68386|0.68386	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54;1.54|.	6.06|6.06	4.28|4.28	0.50868|0.50868	6.06|6.06	4.28|4.28	0.50868|0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.145083|.	0.64402|.	D|.	0.000008|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	B;B;P;B;B|.	0.36412|.	0.381;0.027;0.552;0.397;0.214|.	B;B;B;B;B|.	0.43990|.	0.103;0.012;0.438;0.199;0.113|.	T|T	0.55270|0.55270	-0.8167|-0.8167	10|5	0.20519|.	T|.	0.43|.	-11.4381|-11.4381	13.062|13.062	0.59012|0.59012	0.0:0.1294:0.747:0.1236|0.0:0.1294:0.747:0.1236	.|.	725;170;725;694;693|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	T|N	694;725;694;693;694;725|64	ENSP00000232458:A694T;ENSP00000376457:A725T;ENSP00000401910:A694T;ENSP00000415876:A693T;ENSP00000412259:A694T;ENSP00000443160:A725T|.	ENSP00000232458:A694T|.	A|S	+|+	1|2	0|0	0|0	ECT2|ECT2	174006281|174006281	174006281|174006281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	3.275000|3.275000	0.51639|0.51639	0.888000|0.888000	0.36160|0.36160	0.650000|0.650000	0.86243|0.86243	GCT|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.521937	1	0.170000	NM_018098			46	44		196	194	1		1	1		0	0	57	0		1	1	0	48	0	72	0	46	196
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					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)			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)			CTTTTTCAACGAGCAATAGCT	0.358																																						ENST00000457714.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				83						c.(871-873)cGa>cAa		neuroligin 1							50.0	51.0	51.0					3																	173996663		2202	4299	6501	SO:0001583	missense	22871	0	0					g.chr3:173996663G>A	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.872G>A	chr3.hg19:g.173996663G>A	ENSP00000392500:p.Arg291Gln	0					NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q	p.R291Q	NM_014932.2	NP_055747.1	1	2	3	1.998468	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)	6	1301	+	Ovarian(172;0.0025)		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	1	1	hg19	c.872G>A	CCDS3222.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751325	0.89753	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71698	0.01;0.01;-0.59;0.01;0.01	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.059259	0.64402	D	0.000004	D	0.84786	0.5549	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.955;0.964	D	0.85471	0.1173	10	0.66056	D	0.02	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	331;291	D2X2H5;Q8N2Q7-2	.;.	Q	291;291;331;291;331	ENSP00000392500:R291Q;ENSP00000354541:R291Q;ENSP00000410374:R331Q;ENSP00000441108:R291Q;ENSP00000385750:R331Q	ENSP00000354541:R291Q	R	+	2	0	0	NLGN1	175479357	175479357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.933218	1	0.170000	NM_014932			43	43		236	235	1		1	0		0	0	50	0		1	0	0	0	0	1	0	43	236
NLGN1	22871	broad.mit.edu	37	3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	420					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)			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)			GTAGATAGCGATGATGGTATA	0.333																																						ENST00000457714.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1207-1209)gAt>gGt		neuroligin 1							122.0	130.0	128.0					3																	173996999		2203	4300	6503	SO:0001583	missense	22871	0	0					g.chr3:173996999A>G	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.1208A>G	chr3.hg19:g.173996999A>G	ENSP00000392500:p.Asp403Gly	0					NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G	p.D403G	NM_014932.2	NP_055747.1	1	2	3	1.998468	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)	6	1637	+	Ovarian(172;0.0025)		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	1	1	hg19	c.1208A>G	CCDS3222.1	1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811455	0.50527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.106713	0.64402	D	0.000006	T	0.55784	0.1942	N	0.21545	0.675	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.54111	-0.8342	10	0.72032	D	0.01	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	443;403	D2X2H5;Q8N2Q7-2	.;.	G	403;403;403;443	ENSP00000392500:D403G;ENSP00000354541:D403G;ENSP00000441108:D403G;ENSP00000385750:D443G	ENSP00000354541:D403G	D	+	2	0	0	NLGN1	175479693	175479693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_014932			87	86		400	393	1		1			0	0	78	0		1	0	0	0	0	0	0	87	400
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					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)			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)			AAAGACATTACTGGCTTTGTT	0.448																																						ENST00000457714.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1369-1371)Ctg>Atg		neuroligin 1							101.0	97.0	99.0					3																	173997160		2203	4300	6503	SO:0001583	missense	22871	0	0					g.chr3:173997160C>A	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.1369C>A	chr3.hg19:g.173997160C>A	ENSP00000392500:p.Leu457Met	0					NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M	p.L457M	NM_014932.2	NP_055747.1	1	2	3	1.998468	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)	6	1798	+	Ovarian(172;0.0025)		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	1	1	hg19	c.1369C>A	CCDS3222.1	1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568022	0.28003	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.55	0.40652	5.89	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.28458	0.855	0.52501	D	0.99995	P;P	0.36712	0.566;0.516	B;B	0.44163	0.403;0.443	T	0.53012	-0.8498	10	0.44086	T	0.13	.	9.8156	0.40851	0.0:0.2601:0.0:0.7399	.	497;457	D2X2H5;Q8N2Q7-2	.;.	M	457;457;457;497	ENSP00000392500:L457M;ENSP00000354541:L457M;ENSP00000441108:L457M;ENSP00000385750:L497M	ENSP00000354541:L457M	L	+	1	2	2	NLGN1	175479854	175479854	0.479000	0.25925	0.985000	0.45067	0.984000	0.73092	0.071000	0.14594	0.164000	0.19529	-0.360000	0.07572	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_014932			90	90		399	391	1		1	0		0	0	97	0		1	0	0	0	0	1	0	90	399
TBC1D5	9779	broad.mit.edu	37	3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T	rs541295334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	225	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			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						CTGGCATGTAGAAAAGCTTGG	0.413																																						ENST00000253692.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(673-675)Cta>Ata		TBC1 domain family, member 5							94.0	100.0	98.0					3																	17418045		2203	4300	6503	SO:0001583	missense	9779	0	0					g.chr3:17418045G>T	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.673C>A	chr3.hg19:g.17418045G>T	ENSP00000253692:p.Leu225Ile	0					TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I	p.L225I	NM_014744.2	NP_055559.1	1	2	3	1.998468	Q92609	TBCD5_HUMAN		10	2337	-			A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	1	1	hg19	c.673C>A	CCDS33714.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269862	0.40095	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44482	1.48;1.48;1.48;0.92	4.97	4.08	0.47627	4.97	4.08	0.47627	Rab-GAP/TBC domain (4);	0.221938	0.39834	N	0.001255	T	0.36110	0.0955	L	0.29908	0.895	0.33777	D	0.62378	B;P;B	0.37688	0.038;0.605;0.237	B;P;B	0.48334	0.071;0.574;0.292	T	0.47674	-0.9099	10	0.37606	T	0.19	-11.6177	4.6907	0.12780	0.3169:0.0:0.6831:0.0	.	177;225;225	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	I	225;225;225;177	ENSP00000253692:L225I;ENSP00000398127:L225I;ENSP00000402935:L225I;ENSP00000411925:L177I	ENSP00000253692:L225I	L	-	1	2	2	TBC1D5	17393049	17393049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.804000	0.62554	2.319000	0.78375	0.585000	0.79938	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	0	0	1		17	6	2	1		1	1	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_014744			66	65		347	340	1		1	1		1	0	81	0		1	9.883837e-01	0	14	0	66	0	66	347
NLGN1	22871	broad.mit.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A	rs527860138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					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.R755Q(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)			GTGGTTCTTCGGACCGCCTGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.001					ENST00000457714.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R755Q(1)	large_intestine(1)	83						c.(2263-2265)cGg>cAg		neuroligin 1							175.0	151.0	159.0					3																	173998885		2203	4300	6503	SO:0001583	missense	22871	2	121412	34				g.chr3:173998885G>A	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.2264G>A	chr3.hg19:g.173998885G>A	ENSP00000392500:p.Arg755Gln	0					NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q	p.R755Q	NM_014932.2	NP_055747.1	1	2	3	1.998468	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)	7	2693	+	Ovarian(172;0.0025)		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	1	1	hg19	c.2264G>A	CCDS3222.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	0	NLGN1	175481579	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.889431	1	0.170000	NM_014932			71	71		323	317	1		1			0	0	80	0		1	0	0	0	0	0	0	71	323
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	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	112						integral component of membrane (GO:0016021)				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)		CATTATACACGATCTGCACCA	0.378																																						ENST00000454872.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(334-336)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase-like 2							82.0	82.0	82.0					3																	174814871		1868	4104	5972	SO:0001583	missense	254827	0	0					g.chr3:174814871G>A		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.335G>A	chr3.hg19:g.174814871G>A	ENSP00000404705:p.Arg112Gln	0					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.R112Q	NM_207015.2	NP_996898.2	1	2	3	1.998468	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	2	463	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	1	1	hg19	c.335G>A	CCDS46960.1	1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357573	0.61293	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.49720	0.77;1.26	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.127766	0.34156	N	0.004212	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	T	0.51148	-0.8742	10	0.59425	D	0.04	-24.494	13.4601	0.61223	0.0716:0.0:0.9284:0.0	.	95;112	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Q	95;112	ENSP00000409858:R95Q;ENSP00000404705:R112Q	ENSP00000409858:R95Q	R	+	2	0	0	NAALADL2	176297565	176297565	0.996000	0.38824	0.971000	0.41717	0.897000	0.52465	5.814000	0.69208	2.850000	0.98022	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.805996	1	0.170000	NM_207015			92	90		343	340	1		1	0		0	0	94	0		1	6.587151e-01	0	1	0	9	0	92	343
NAALADL2	254827	broad.mit.edu	37	3	175165072	175165072	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	382						integral component of membrane (GO:0016021)				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)		TGCAGCCCATCTCTGCACCCC	0.388																																						ENST00000454872.1	1.000000	0.850000	1	9.900000e-01	0.990000	0.991491	0.990000	1.000000																										0				49						c.(1144-1146)atC>atA		N-acetylated alpha-linked acidic dipeptidase-like 2							76.0	71.0	73.0					3																	175165072		1877	4124	6001	SO:0001819	synonymous_variant	254827	0	0					g.chr3:175165072C>A		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.1146C>A	chr3.hg19:g.175165072C>A		0					NAALADL2_ENST00000473253.1_3'UTR	p.I382I	NM_207015.2	NP_996898.2	1	2	3	1.998468	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	6	1274	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	1	1	hg19	c.1146C>A	CCDS46960.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-16.764550	1	0.170000	NM_207015			9	9		52	51	1		1	0		0	0	23	0		9.950406e-01	4.235835e-01	0	0	0	9	0	9	52
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											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)			ATAGTAATTTCGGAGTTTCTT	0.438																																						ENST00000311417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(295-297)cGa>cAa		zinc finger, matrin-type 3							119.0	112.0	114.0					3																	178748762		2203	4300	6503	SO:0001583	missense	64393	0	0					g.chr3:178748762C>T	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.296G>A	chr3.hg19:g.178748762C>T	ENSP00000311221:p.Arg99Gln	0					ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	p.R99Q	NM_022470.3	NP_071915.1	1	2	3	1.998468			OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)	3	1037	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)			Missense_Mutation	SNP	ENST00000311417.2	1	1	hg19	c.296G>A	CCDS3224.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.598322	0.96614	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.47177	0.85;0.85;0.85	5.47	5.47	0.80525	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.62048	-0.6936	10	0.56958	D	0.05	-13.3478	19.3366	0.94322	0.0:1.0:0.0:0.0	.	99;99	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	Q	99	ENSP00000311221:R99Q;ENSP00000396506:R99Q;ENSP00000398920:R99Q	ENSP00000311221:R99Q	R	-	2	0	0	ZMAT3	180231456	180231456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.773000	0.62331	2.551000	0.86045	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_152240			63	63		330	322	1		1	1		0	0	71	0		1	9.998881e-01	0	8	0	64	0	63	330
ZMAT3	64393	broad.mit.edu	37	3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											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)			GTGGTGGAAGCTGCAAGGTTC	0.582																																						ENST00000311417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(94-96)caG>caT		zinc finger, matrin-type 3							132.0	129.0	130.0					3																	178785445		2203	4300	6503	SO:0001583	missense	64393	0	0					g.chr3:178785445C>A	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.96G>T	chr3.hg19:g.178785445C>A	ENSP00000311221:p.Gln32His	0					ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	p.Q32H	NM_022470.3	NP_071915.1	1	2	3	1.998468			OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)	2	837	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)			Missense_Mutation	SNP	ENST00000311417.2	1	1	hg19	c.96G>T	CCDS3224.1	1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623280	0.46840	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.48201	0.93;0.92;0.82	5.86	4.99	0.66335	5.86	4.99	0.66335	.	0.693387	0.14830	N	0.295886	T	0.30885	0.0779	N	0.14661	0.345	0.37288	D	0.908141	P;P	0.42649	0.786;0.681	B;B	0.40066	0.318;0.169	T	0.16630	-1.0396	10	0.32370	T	0.25	-19.4788	9.7286	0.40348	0.0:0.8038:0.0:0.1962	.	32;32	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	H	32	ENSP00000311221:Q32H;ENSP00000396506:Q32H;ENSP00000398920:Q32H	ENSP00000311221:Q32H	Q	-	3	2	2	ZMAT3	180268139	180268139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.452000	0.35156	1.481000	0.48307	0.563000	0.77884	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	0		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_152240			125	120		538	522	1		1	1		0	0	109	0		1	9.999992e-01	0	15	0	71	0	125	538
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.S18S(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)			ACATAGGAGGCGAGGGTGAGG	0.572																																						ENST00000311417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S18S(1)	lung(1)	14						c.(52-54)tcG>tcA		zinc finger, matrin-type 3							140.0	143.0	142.0					3																	178785487		2203	4300	6503	SO:0001819	synonymous_variant	64393	2	121412	35				g.chr3:178785487C>T	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.54G>A	chr3.hg19:g.178785487C>T		0					ZMAT3_ENST00000432729.1_Silent_p.S18S	p.S18S	NM_022470.3	NP_071915.1	1	2	3	1.998468			OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)	2	795	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)			Silent	SNP	ENST00000311417.2	1	1	hg19	c.54G>A	CCDS3224.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	0		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_152240			148	147		606	589	1		1	1		0	0	146	0		1	9.999870e-01	0	10	0	57	0	148	606
ZNF639	51193	broad.mit.edu	37	3	179051598	179051598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	282					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCAGACACCCATTTTAGTG	0.418																																						ENST00000326361.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(844-846)acC>acT		zinc finger protein 639							131.0	125.0	127.0					3																	179051598		2203	4300	6503	SO:0001819	synonymous_variant	51193	0	0					g.chr3:179051598C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.846C>T	chr3.hg19:g.179051598C>T		0					ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	p.T282T	NM_016331.1	NP_057415.1	1	2	3	1.998468	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)	7	1291	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	1	1	hg19	c.846C>T	CCDS3227.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-2.807835	1	0.170000	NM_016331			74	74		421	414	1		1	1		0	0	98	0		1	9.999976e-01	0	18	0	89	0	74	421
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)			CATGAAGGTGGCATTTTTTGG	0.378																																						ENST00000471841.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(235-237)Gca>Aca		mitofusin 1							148.0	154.0	152.0					3																	179069810		2203	4300	6503	SO:0001583	missense	55669	0	0					g.chr3:179069810G>A	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.235G>A	chr3.hg19:g.179069810G>A	ENSP00000420617:p.Ala79Thr	0					MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	p.A79T	NM_033540.2	NP_284941	1	2	3	1.998468	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)	3	361	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	1	1	hg19	c.235G>A	CCDS3228.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	0	MFN1	180552504	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-20.000000	1	0.170000	NM_017927			140	135		704	690	1		1	1		0	0	154	0		1	1	0	49	0	81	0	140	704
MFN1	55669	broad.mit.edu	37	3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	115	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)			CTTCCTAAGTGTTGAAGGAAC	0.388																																						ENST00000471841.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(343-345)Gtt>Att		mitofusin 1							155.0	143.0	147.0					3																	179076722		2203	4300	6503	SO:0001583	missense	55669	0	0					g.chr3:179076722G>A	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.343G>A	chr3.hg19:g.179076722G>A	ENSP00000420617:p.Val115Ile	0					MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	p.V115I	NM_033540.2	NP_284941	1	2	3	1.998468	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)	4	469	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	1	1	hg19	c.343G>A	CCDS3228.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518764	0.85495	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.86	5.86	0.93980	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.962;0.998	D	0.96458	0.9339	10	0.31617	T	0.26	-21.6062	20.5632	0.99335	0.0:0.0:1.0:0.0	.	143;115	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	115	ENSP00000420617:V115I;ENSP00000280653:V115I;ENSP00000419134:V115I;ENSP00000263969:V115I	ENSP00000263969:V115I	V	+	1	0	0	MFN1	180559416	180559416	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_017927			75	75		324	317	1		1	1		0	0	77	0		1	9.999970e-01	0	28	0	54	0	75	324
MFN1	55669	broad.mit.edu	37	3	179076766	179076766	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)			TGACAGAAGGATCAGATGAAA	0.343																																						ENST00000471841.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(385-387)ggA>ggG		mitofusin 1							130.0	121.0	124.0					3																	179076766		2203	4300	6503	SO:0001819	synonymous_variant	55669	0	0					g.chr3:179076766A>G	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.387A>G	chr3.hg19:g.179076766A>G		0					MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	p.G129G	NM_033540.2	NP_284941	1	2	3	1.998468	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)	4	513	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	1	1	hg19	c.387A>G	CCDS3228.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_017927			65	63		270	267	1		1	1		0	0	53	0		1	9.999997e-01	0	33	0	62	0	65	270
GNB4	59345	broad.mit.edu	37	3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	287					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(859-861)gCt>gTt		guanine nucleotide binding protein (G protein), beta polypeptide 4							116.0	108.0	110.0					3																	179123034		2203	4300	6503	SO:0001583	missense	59345	0	0					g.chr3:179123034G>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.860C>T	chr3.hg19:g.179123034G>A	ENSP00000232564:p.Ala287Val	0					RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	p.A287V	NM_021629.3	NP_067642.1	1	2	3	1.998468	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)	9	1146	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	1	1	hg19	c.860C>T	CCDS3230.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.497553	0.96355	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.59906	0.23;0.23	5.39	5.39	0.77823	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094329	0.64402	N	0.000001	T	0.75686	0.3883	M	0.85041	2.73	0.80722	D	1	D	0.58620	0.983	P	0.55545	0.778	T	0.79722	-0.1684	10	0.66056	D	0.02	-28.153	19.5074	0.95125	0.0:0.0:1.0:0.0	.	287	Q9HAV0	GBB4_HUMAN	V	287	ENSP00000232564:A287V;ENSP00000419693:A287V	ENSP00000232564:A287V	A	-	2	0	0	GNB4	180605728	180605728	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.721000	0.98766	2.678000	0.91216	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_021629			82	81		385	377	1		1	0		0	0	75	0		1	9.999998e-01	0	1	0	104	0	82	385
MRPL47	57129	broad.mit.edu	37	3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	119					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			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)			CTGCCGCTTGGCCTCCTGCTC	0.428																																						ENST00000476781.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(355-357)gCc>gTc		mitochondrial ribosomal protein L47							144.0	134.0	138.0					3																	179316509		2203	4300	6503	SO:0001583	missense	57129	0	0					g.chr3:179316509G>A	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.356C>T	chr3.hg19:g.179316509G>A	ENSP00000417602:p.Ala119Val	0					MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	p.A119V	NM_020409.2	NP_065142.2	1	2	3	1.998468	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)	4	385	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	1	1	hg19	c.356C>T	CCDS3232.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.257331	0.95368	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46451	1.39;1.41;0.87	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.178216	0.48286	D	0.000191	T	0.63873	0.2548	M	0.66439	2.03	0.44562	D	0.997529	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.52185	-0.8609	10	0.20046	T	0.44	-12.1073	20.4745	0.99168	0.0:0.0:1.0:0.0	.	99;119	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	119;99;9	ENSP00000417602:A119V;ENSP00000259038:A99V;ENSP00000376427:A9V	ENSP00000259038:A99V	A	-	2	0	0	MRPL47	180799203	180799203	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_020409			86	85		349	336	1		1	1		0	0	87	0		1	1	0	80	0	228	0	86	349
MRPL47	57129	broad.mit.edu	37	3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	81					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			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)			TATCTCACCAGATTTTACTTT	0.398																																						ENST00000476781.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(241-243)tCt>tAt		mitochondrial ribosomal protein L47							66.0	70.0	69.0					3																	179320442		2203	4299	6502	SO:0001583	missense	57129	0	0					g.chr3:179320442G>T	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.242C>A	chr3.hg19:g.179320442G>T	ENSP00000417602:p.Ser81Tyr	0					NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000472629.1_5'Flank|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	p.S81Y	NM_020409.2	NP_065142.2	1	2	3	1.998468	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)	2	271	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	1	1	hg19	c.242C>A	CCDS3232.1	1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872083	0.72180	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.42	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.41415	1.275	0.80722	D	1	D;D	0.61080	0.966;0.989	P;D	0.69307	0.831;0.963	T	0.22730	-1.0208	10	0.02654	T	1	-23.0982	17.9188	0.88960	0.0:0.0:1.0:0.0	.	61;81	Q9HD33-2;Q9HD33	.;RM47_HUMAN	Y	81;61	ENSP00000417602:S81Y;ENSP00000259038:S61Y	ENSP00000259038:S61Y	S	-	2	0	0	MRPL47	180803136	180803136	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.879000	0.75572	2.511000	0.84671	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_020409			71	70		281	267	0		1	1		0	0	50	0		1	1	0	117	0	259	0	71	281
NDUFB5	4711	broad.mit.edu	37	3	179336307	179336307	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000259037.3	+	5	561	c.447A>G	c.(445-447)ttA>ttG	p.L149L	NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000493866.1_Silent_p.L97L|NDUFB5_ENST00000473500.1_3'UTR	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	149					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	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)			AGGCTGAATTACGGTAGGAAA	0.378																																						ENST00000259037.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				8						c.(445-447)ttA>ttG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa							55.0	56.0	56.0					3																	179336307		2203	4300	6503	SO:0001819	synonymous_variant	4711	0	0					g.chr3:179336307A>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.447A>G	chr3.hg19:g.179336307A>G		0					NDUFB5_ENST00000493866.1_Silent_p.L97L|NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000473500.1_3'UTR	p.L149L	NM_002492.3	NP_002483.1	1	2	3	1.998468	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)	5	561	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		Q561V6	Silent	SNP	ENST00000259037.3	1	1	hg19	c.447A>G	CCDS3234.1	1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557860	0.45590	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.97	4.84	0.62591	5.97	4.84	0.62591	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	-13.992	5.3624	0.16095	0.7091:0.1802:0.1107:0.0	.	.	.	.	C	166	.	.	Y	+	2	0	0	NDUFB5	180819001	180819001	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.831000	0.39141	2.284000	0.76573	0.523000	0.50628	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-18.123050	1	0.170000	NM_002492			29	29		130	123	1		1	1		0	0	45	0		1	1	0	169	0	440	0	29	130
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722	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)			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)			TTTGGTGCTTCTGGACTGGAT	0.502																																						ENST00000263966.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2164-2166)tCt>tAt		ubiquitin specific peptidase 13 (isopeptidase T-3)							121.0	107.0	112.0					3																	179481862		2203	4300	6503	SO:0001583	missense	8975	0	0					g.chr3:179481862C>A	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.2165C>A	chr3.hg19:g.179481862C>A	ENSP00000263966:p.Ser722Tyr	0					USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	p.S722Y	NM_003940.2	NP_003931.2	1	2	3	1.998468	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)	18	2636	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	1	1	hg19	c.2165C>A	CCDS3235.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455376	0.63401	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16196	2.36;2.36	5.87	3.86	0.44501	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.10508	0.0257	N	0.14661	0.345	0.27348	N	0.95632	P	0.35527	0.507	B	0.40038	0.317	T	0.09818	-1.0657	10	0.62326	D	0.03	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	Y	722;657	ENSP00000263966:S722Y;ENSP00000417146:S657Y	ENSP00000263966:S722Y	S	+	2	0	0	USP13	180964556	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000				79	75		348	337	1		1	1		0	0	67	0		1	3.854055e-01	0	2	0	5	0	79	348
USP13	8975	broad.mit.edu	37	3	179499528	179499528	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	805	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)			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)			CTTTCACAGCATATGAGCTAT	0.378																																						ENST00000263966.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2413-2415)acA>acG		ubiquitin specific peptidase 13 (isopeptidase T-3)							126.0	109.0	115.0					3																	179499528		2203	4300	6503	SO:0001630	splice_region_variant	8975	0	0					g.chr3:179499528A>G	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.2414-1A>G	chr3.hg19:g.179499528A>G		0					USP13_ENST00000496897.1_Splice_Site_p.T740T	p.T805T	NM_003940.2	NP_003931.2	1	2	3	1.998468	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)	20	2886	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	1	0	hg19	c.2415A>G	CCDS3235.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000		Silent		57	56		252	247	1		1	1		0	0	56	0		1	4.549297e-01	0	2	0	6	0	57	252
PEX5L	51555	broad.mit.edu	37	3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|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	545					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577																																						ENST00000467460.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1633-1635)aGa>aTa		peroxisomal biogenesis factor 5-like							177.0	173.0	174.0					3																	179525504		2203	4300	6503	SO:0001583	missense	51555	0	0					g.chr3:179525504C>A	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.1634G>T	chr3.hg19:g.179525504C>A	ENSP00000419975:p.Arg545Ile	0					PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I	p.R545I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	1	2	3	1.998468	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)	14	1964	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	1	1	hg19	c.1634G>T	CCDS3236.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	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	6.07	6.07	0.98685	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.94;0.913;0.964	T	0.77429	-0.2591	10	0.87932	D	0	-21.9465	20.6525	0.99598	0.0:1.0:0.0:0.0	.	486;521;437;543;510;545	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	545;543;510;543;437;353;502;433;486;437;521	ENSP00000419975:R545I;ENSP00000263962:R543I;ENSP00000418440:R510I;ENSP00000376420:R437I;ENSP00000418665:R353I;ENSP00000420555:R502I;ENSP00000418054:R486I;ENSP00000417270:R437I;ENSP00000419348:R521I	ENSP00000263962:R543I	R	-	2	0	0	PEX5L	181008198	181008198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1		2	2	2	0		0	0	196		196	196	1	2.060000	-20.000000	1	0.170000	NM_016559			231	230		896	882	1		1			0	0	196	0		1	0	0	0	0	0	0	231	896
PEX5L	51555	broad.mit.edu	37	3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|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	269					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393																																						ENST00000467460.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999834	0.990000	1.000000																										0				49						c.(805-807)gCa>gTa		peroxisomal biogenesis factor 5-like							143.0	142.0	142.0					3																	179576866		2203	4300	6503	SO:0001583	missense	51555	0	0					g.chr3:179576866G>A	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.806C>T	chr3.hg19:g.179576866G>A	ENSP00000419975:p.Ala269Val	0					PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V	p.A269V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	1	2	3	1.998468	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)	8	1136	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	1	1	hg19	c.806C>T	CCDS3236.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875930	0.91664	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.46;-2.4;-2.44;-2.47;-2.47;-2.4;-2.47	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	L	0.57536	1.79	0.80722	D	1	D;D;P;D;D;D	0.89917	0.993;0.999;0.884;1.0;0.999;0.999	D;D;P;D;D;D	0.85130	0.968;0.986;0.54;0.997;0.996;0.994	D	0.92940	0.6371	10	0.51188	T	0.08	-17.3417	18.8213	0.92099	0.0:0.0:1.0:0.0	.	210;245;161;267;234;269	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	269;267;234;267;161;77;226;157;210;161;245	ENSP00000419975:A269V;ENSP00000263962:A267V;ENSP00000418440:A234V;ENSP00000376420:A161V;ENSP00000418665:A77V;ENSP00000420555:A226V;ENSP00000418054:A210V;ENSP00000417270:A161V;ENSP00000419348:A245V	ENSP00000263962:A267V	A	-	2	0	0	PEX5L	181059560	181059560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_016559			37	36		241	237	1		1			0	0	42	0		1	0	0	0	0	0	0	37	241
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|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	232					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393																																						ENST00000467460.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(694-696)gCt>gTt		peroxisomal biogenesis factor 5-like							103.0	101.0	101.0					3																	179592146		2203	4300	6503	SO:0001583	missense	51555	2	121412	33				g.chr3:179592146G>A	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.695C>T	chr3.hg19:g.179592146G>A	ENSP00000419975:p.Ala232Val	0					PEX5L_ENST00000467440.2_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V	p.A232V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	1	2	3	1.998468	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)	7	1025	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	1	1	hg19	c.695C>T	CCDS3236.1	1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	0	PEX5L	181074840	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_016559			62	61		240	236	1		1			0	0	58	0		1	0	0	0	0	0	0	62	240
TTC14	151613	broad.mit.edu	37	3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	568							RNA binding (GO:0003723)			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)			AGTATGAAAAGACACAGATAA	0.388																																						ENST00000296015.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1702-1704)aaG>aaT		tetratricopeptide repeat domain 14							130.0	148.0	142.0					3																	180327721		2203	4299	6502	SO:0001583	missense	151613	0	0					g.chr3:180327721G>T	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.1704G>T	chr3.hg19:g.180327721G>T	ENSP00000296015:p.Lys568Asn	0					TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000412756.2_3'UTR	p.K568N	NM_133462.3	NP_597719.1	1	2	3	1.998468	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)	12	1836	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	1	1	hg19	c.1704G>T	CCDS3237.1	1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385450	0.11524	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.47869	0.83;0.83	5.19	1.29	0.21616	5.19	1.29	0.21616	.	0.293840	0.38272	N	0.001747	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.03619	-1.1019	10	0.40728	T	0.16	-7.3015	6.0769	0.19921	0.296:0.0:0.5781:0.1259	.	568;568	Q96N46-2;Q96N46	.;TTC14_HUMAN	N	568	ENSP00000296015:K568N;ENSP00000372027:K568N	ENSP00000296015:K568N	K	+	3	2	2	TTC14	181810415	181810415	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	1.534000	0.36051	0.100000	0.17581	-0.136000	0.14681	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	1	0	1		2	2	2	0		0	0	216		216	215	1	2.060000	-20.000000	1	0.170000	NM_133462			198	197		827	814	1		1	1		0	0	216	0		1	9.999701e-01	0	16	0	47	0	198	827
CCDC39	339829	broad.mit.edu	37	3	180397253	180397253	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180397253C>T	ENST00000442201.2	-	0	35				CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						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)				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)			AGCCCAGGCACCTGCACAGTG	0.582																																						ENST00000442201.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45								coiled-coil domain containing 39																																						339829	0	0					g.chr3:180397253C>T	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.-85G>A	chr3.hg19:g.180397253C>T		0					CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron		NM_181426.1	NP_852091.1	1	2	3	1.998468	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)	0	35	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		B4E2H1	Translation_Start_Site	SNP	ENST00000442201.2	0	1	hg19		CCDS46964.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	XM_291028			61	60		243	241	0		1			0	0	62	0		1	0	0	0	0	0	0	61	243
FXR1	8087	broad.mit.edu	37	3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	111	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338																																						ENST00000357559.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				26						c.(331-333)Cga>Tga		fragile X mental retardation, autosomal homolog 1							51.0	53.0	53.0					3																	180666195		2203	4300	6503	SO:0001587	stop_gained	8087	0	0					g.chr3:180666195C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.331C>T	chr3.hg19:g.180666195C>T	ENSP00000350170:p.Arg111*	0					FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*	p.R111*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	1	2	3	1.998468	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)	5	715	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	SNP	ENST00000357559.4	0	1	hg19	c.331C>T	CCDS3238.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.876758	0.97904	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	.	.	.	5.84	2.92	0.33932	5.84	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4776	15.6882	0.77426	0.4626:0.5374:0.0:0.0	.	.	.	.	X	26;26;26;111;26;62;26;111;26;98;115	.	ENSP00000307633:R26X	R	+	1	2	2	FXR1	182148889	182148889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.668000	0.46816	0.761000	0.33130	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5	1	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-19.980850	1	0.170000				41	41		215	212	1		1	1		0	0	41	0		1	1	0	8	0	149	0	41	215
DNAJC19	131118	broad.mit.edu	37	3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G|DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000479269.1_5'UTR	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	3					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448																																						ENST00000382564.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				3						c.(7-9)Agt>Ggt		DnaJ (Hsp40) homolog, subfamily C, member 19							76.0	73.0	74.0					3																	180706014		2203	4300	6503	SO:0001583	missense	131118	0	0					g.chr3:180706014T>C		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.7A>G	chr3.hg19:g.180706014T>C	ENSP00000372005:p.Ser3Gly	0					DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G	p.S3G	NM_145261.3	NP_660304.1	1	2	3	1.998468	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)	2	177	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	1	1	hg19	c.7A>G	CCDS33895.1	1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478437	0.44044	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	4.2	0.49525	5.37	4.2	0.49525	.	0.162599	0.64402	N	0.000003	T	0.45013	0.1321	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.32370	T	0.25	-1.0867	8.4651	0.32951	0.0:0.0942:0.0:0.9058	.	3	Q96DA6	TIM14_HUMAN	G	3	.	ENSP00000372005:S3G	S	-	1	0	0	DNAJC19	182188708	182188708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.615000	0.46368	0.976000	0.38417	0.533000	0.62120	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.923540	1	0.170000	NM_145261			34	33		146	140	1		1	1		0	0	38	0		1	1	0	34	0	117	0	34	146
SOX2	6657	broad.mit.edu	37	3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	261					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q26.3-q27	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E	E			NSCLC, oesophageal squamous carcinoma		0				10						c.(781-783)tCc>tTc		SRY (sex determining region Y)-box 2							45.0	40.0	42.0					3																	181430930		2199	4292	6491	SO:0001583	missense	6657	0	0					g.chr3:181430930C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.782C>T	chr3.hg19:g.181430930C>T	ENSP00000323588:p.Ser261Phe	0					SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	p.S261F	NM_003106.3	NP_003097.1	1	2	3	1.998468	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)	1	1209	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		Q14537	Missense_Mutation	SNP	ENST00000325404.1	1	1	hg19	c.782C>T	CCDS3239.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738824	0.49045	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85339	-1.97;-1.97	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.185050	0.48767	D	0.000174	D	0.83797	0.5332	L	0.49126	1.545	0.58432	D	0.999999	P	0.41159	0.74	B	0.39738	0.308	D	0.85853	0.1405	10	0.87932	D	0	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	261	P48431	SOX2_HUMAN	F	261	ENSP00000439111:S261F;ENSP00000323588:S261F	ENSP00000323588:S261F	S	+	2	0	0	SOX2	182913624	182913624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.457000	0.60088	2.735000	0.93741	0.655000	0.94253	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-3.340545	1	0.170000	NM_003106			76	76		375	369	1		1			0	0	78	0		1	0	0	0	0	0	0	76	375
ATP11B	23200	broad.mit.edu	37	3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1031					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)			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)			CAACCATCTCGTTACCTGGGG	0.303																																						ENST00000323116.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3091-3093)Gtt>Att		ATPase, class VI, type 11B							131.0	147.0	141.0					3																	182615133		2203	4294	6497	SO:0001583	missense	23200	1	121398	34				g.chr3:182615133G>A	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.3091G>A	chr3.hg19:g.182615133G>A	ENSP00000321195:p.Val1031Ile	0						p.V1031I	NM_014616.2	NP_055431.1	1	2	3	1.998468	Q9Y2G3	AT11B_HUMAN	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)	27	3351	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	1	1	hg19	c.3091G>A	CCDS33896.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145252|5.145252	0.94603|0.94603	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000491699|ENST00000323116	.|T	.|0.39406	.|1.08	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.755	.|D;B	.|0.75020	.|0.985;0.312	T|T	0.58352|0.58352	-0.7651|-0.7651	5|10	.|0.52906	.|T	.|0.07	.|.	19.663|19.663	0.95879|0.95879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|605;1031	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	H|I	15|1031	.|ENSP00000321195:V1031I	.|ENSP00000321195:V1031I	R|V	+|+	2|1	0|0	0|0	ATP11B|ATP11B	184097827|184097827	184097827|184097827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.348000|9.348000	0.97062|0.97062	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CGT|GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	1	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_014616			175	172		837	824	1		1	1		0	0	151	0		1	1	0	38	0	102	0	175	837
MCCC1	56922	broad.mit.edu	37	3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000265594.4	-	13	1649	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	MCCC1_ENST00000492597.1_Missense_Mutation_p.K392N|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000489909.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	501					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)			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)	TGGCTGCAGCCTTCCGACTGA	0.512																																						ENST00000265594.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1501-1503)aaG>aaT		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127.0	111.0	116.0					3																	182755097		2203	4300	6503	SO:0001583	missense	56922	0	0					g.chr3:182755097C>A	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.1503G>T	chr3.hg19:g.182755097C>A	ENSP00000265594:p.Lys501Asn	0					MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.K392N	p.K501N	NM_020166.3	NP_064551.3	1	2	3	1.998468	Q96RQ3	MCCA_HUMAN	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)	13	1649	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	1	1	hg19	c.1503G>T	CCDS3241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.767|4.767	0.142627|0.142627	0.09083|0.09083	.|.	.|.	ENSG00000078070|ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176|ENST00000448585	D;D;D;D|.	0.95622|.	-3.76;-3.7;-3.58;-3.52|.	5.93|5.93	0.553|0.553	0.17235|0.17235	5.93|5.93	0.553|0.553	0.17235|0.17235	.|.	0.499217|.	0.25487|.	N|.	0.030329|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30584|.	0.259;0.164;0.286|.	B;B;B|.	0.27608|.	0.081;0.052;0.067|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|6	0.22109|0.51188	T|T	0.4|0.08	.|.	1.9389|1.9389	0.03342|0.03342	0.1317:0.4086:0.1216:0.3381|0.1317:0.4086:0.1216:0.3381	.|.	454;392;501|.	E9PG35;E9PHF7;Q96RQ3|.	.;.;MCCA_HUMAN|.	N|M	501;392;351;366;454|454	ENSP00000265594:K501N;ENSP00000419898:K392N;ENSP00000441253:K366N;ENSP00000420433:K454N|.	ENSP00000265594:K501N|ENSP00000407708:R454M	K|R	-|-	3|2	2|0	2|0	MCCC1|MCCC1	184237791|184237791	184237791|184237791	0.001000|0.001000	0.12720|0.12720	0.209000|0.209000	0.23619|0.23619	0.199000|0.199000	0.23934|0.23934	0.283000|0.283000	0.18846|0.18846	0.398000|0.398000	0.25338|0.25338	0.561000|0.561000	0.74099|0.74099	AAG|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-5.868607	1	0.170000	NM_020166			86	84		242	240	1		1	1		0	0	56	0		1	9.999998e-01	0	15	0	51	0	86	242
MCCC1	56922	broad.mit.edu	37	3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	77	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)			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)	ACTATAAACCGCCACAGTCTG	0.423																																						ENST00000265594.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(229-231)gCg>gTg		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127.0	106.0	113.0					3																	182810240		2203	4300	6503	SO:0001583	missense	56922	3	121412	36				g.chr3:182810240G>A	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.230C>T	chr3.hg19:g.182810240G>A	ENSP00000265594:p.Ala77Val	0					MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_Intron	p.A77V	NM_020166.3	NP_064551.3	1	2	3	1.998468	Q96RQ3	MCCA_HUMAN	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)	3	376	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	1	1	hg19	c.230C>T	CCDS3241.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000078070	ENST00000265594	D	0.94497	-3.44	5.86	5.86	0.93980	5.86	5.86	0.93980	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98043	1.0383	10	0.87932	D	0	.	18.9487	0.92632	0.0:0.0:1.0:0.0	.	77	Q96RQ3	MCCA_HUMAN	V	77	ENSP00000265594:A77V	ENSP00000265594:A77V	A	-	2	0	0	MCCC1	184292934	184292934	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	9.064000	0.93933	2.778000	0.95560	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_020166			78	78		300	295	1		1	1		0	0	79	0		1	9.931393e-01	0	6	0	26	0	78	300
KLHL6	89857	broad.mit.edu	37	3	183209999	183209999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	528					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582																																						ENST00000341319.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1582-1584)Ctg>Ttg		kelch-like family member 6							19.0	19.0	19.0					3																	183209999		2201	4299	6500	SO:0001819	synonymous_variant	89857	0	0					g.chr3:183209999G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1582C>T	chr3.hg19:g.183209999G>A		0						p.L528L	NM_130446.2	NP_569713.2	1	2	3	1.998468	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)	7	1617	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	1	1	hg19	c.1582C>T	CCDS3245.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_130446			36	36		158	154	0		1	0		0	0	39	0		1	9.999868e-01	0	0	0	80	0	36	158
KLHL6	89857	broad.mit.edu	37	3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	485					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542																																						ENST00000341319.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1453-1455)aaG>aaT		kelch-like family member 6							217.0	171.0	187.0					3																	183210391		2203	4300	6503	SO:0001583	missense	89857	0	0					g.chr3:183210391C>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1455G>T	chr3.hg19:g.183210391C>A	ENSP00000341342:p.Lys485Asn	0						p.K485N	NM_130446.2	NP_569713.2	1	2	3	1.998468	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)	6	1490	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	1	1	hg19	c.1455G>T	CCDS3245.2	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510440	0.44660	.	.	ENSG00000172578	ENST00000341319	T	0.79554	-1.28	4.88	2.02	0.26589	4.88	2.02	0.26589	Kelch-type beta propeller (1);	0.248378	0.46145	D	0.000308	T	0.70552	0.3237	L	0.28344	0.845	0.40751	D	0.982917	P	0.40909	0.732	P	0.46585	0.521	T	0.67094	-0.5757	10	0.56958	D	0.05	.	4.2404	0.10645	0.1559:0.5404:0.0:0.3037	.	485	Q8WZ60	KLHL6_HUMAN	N	485	ENSP00000341342:K485N	ENSP00000341342:K485N	K	-	3	2	2	KLHL6	184693085	184693085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.874000	0.28065	0.560000	0.29169	0.591000	0.81541	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_130446			54	53		290	285	1		1	0		0	0	66	0		1	9.999627e-01	0	0	0	83	0	54	290
KLHL6	89857	broad.mit.edu	37	3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	257	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572																																						ENST00000341319.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(769-771)gTc>gCc		kelch-like family member 6							158.0	142.0	147.0					3																	183225986		2203	4300	6503	SO:0001583	missense	89857	0	0					g.chr3:183225986A>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.770T>C	chr3.hg19:g.183225986A>G	ENSP00000341342:p.Val257Ala	0						p.V257A	NM_130446.2	NP_569713.2	1	2	3	1.998468	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)	3	805	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	1	1	hg19	c.770T>C	CCDS3245.2	1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684303	0.68157	.	.	ENSG00000172578	ENST00000341319	T	0.71934	-0.61	5.87	5.87	0.94306	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.625119	0.17099	N	0.187080	T	0.68751	0.3035	L	0.48877	1.53	0.22975	N	0.998485	B	0.25272	0.122	B	0.29524	0.103	T	0.64516	-0.6389	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	257	Q8WZ60	KLHL6_HUMAN	A	257	ENSP00000341342:V257A	ENSP00000341342:V257A	V	-	2	0	0	KLHL6	184708680	184708680	0.968000	0.33430	0.047000	0.18901	0.871000	0.50021	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_130446			87	86		407	400	1		1	0		0	0	120	0		1	9.999696e-01	0	0	0	72	0	87	407
KLHL24	54800	broad.mit.edu	37	3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R|KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	492						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363																																						ENST00000454652.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1474-1476)aAa>aGa		kelch-like family member 24							118.0	98.0	105.0					3																	183390145		2203	4300	6503	SO:0001583	missense	54800	0	0					g.chr3:183390145A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1475A>G	chr3.hg19:g.183390145A>G	ENSP00000395012:p.Lys492Arg	0					KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R|KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R	p.K492R	NM_017644.3	NP_060114.2	1	2	3	1.998468	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)	8	1861	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	1	1	hg19	c.1475A>G	CCDS3246.1	1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985839	0.53934	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.56103	0.48;0.48;0.48	5.9	5.9	0.94986	5.9	5.9	0.94986	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.04162	-0.26	0.80722	D	1	D;B	0.56035	0.974;0.025	D;B	0.67725	0.953;0.023	T	0.44421	-0.9329	10	0.02654	T	1	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	492;492	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	R	492	ENSP00000242810:K492R;ENSP00000395012:K492R;ENSP00000419010:K492R	ENSP00000242810:K492R	K	+	2	0	0	KLHL24	184872839	184872839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_017644			81	81		360	358	1		1	1		0	0	77	0		1	9.999999e-01	0	25	0	80	0	81	360
YEATS2	55689	broad.mit.edu	37	3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	527					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)			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)			ATCTCCACGGCTTCTCAGGTC	0.363																																						ENST00000305135.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				49						c.(1579-1581)gCt>gTt		YEATS domain containing 2							137.0	124.0	128.0					3																	183476677		1831	4086	5917	SO:0001583	missense	55689	0	0					g.chr3:183476677C>T	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.1580C>T	chr3.hg19:g.183476677C>T	ENSP00000306983:p.Ala527Val	0						p.A527V	NM_018023.4	NP_060493.3	1	2	3	1.998468	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	13	1775	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	1	1	hg19	c.1580C>T	CCDS43175.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999576	0.35320	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	5.13	3.29	0.37713	5.13	3.29	0.37713	.	0.457148	0.22061	N	0.065174	T	0.14700	0.0355	N	0.12182	0.205	0.28126	N	0.930405	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.33141	T	0.24	-4.1989	5.6175	0.17440	0.0:0.6413:0.1918:0.1669	.	527	Q9ULM3	YETS2_HUMAN	V	527	ENSP00000306983:A527V	ENSP00000306983:A527V	A	+	2	0	0	YEATS2	184959371	184959371	0.739000	0.28196	0.954000	0.39281	0.987000	0.75469	1.212000	0.32394	1.146000	0.42352	0.585000	0.79938	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_018023			68	69		427	425	1		1	1		0	0	87	0		1	9.951973e-01	0	14	0	39	0	68	427
YEATS2	55689	broad.mit.edu	37	3	183503951	183503951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	925					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)			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)			TGAAAATATCCGATAGCACCT	0.488																																						ENST00000305135.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2773-2775)tcC>tcT		YEATS domain containing 2							70.0	68.0	69.0					3																	183503951		2007	4195	6202	SO:0001819	synonymous_variant	55689	5	120906	36				g.chr3:183503951C>T	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.2775C>T	chr3.hg19:g.183503951C>T		0						p.S925S	NM_018023.4	NP_060493.3	1	2	3	1.998468	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	20	2970	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	1	1	hg19	c.2775C>T	CCDS43175.1	1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221416	0.22457	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.73	-11.5	0.00074	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4236	4.9978	0.14249	0.3097:0.4504:0.1031:0.1368	.	.	.	.	X	111	.	.	R	+	1	2	2	YEATS2	184986645	184986645	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-3.082000	0.00613	-1.690000	0.01432	-0.290000	0.09829	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.710791	1	0.170000	NM_018023			44	43		219	216	1		1	1		0	0	88	0		1	9.997843e-01	0	17	0	49	0	44	219
ABCC5	10057	broad.mit.edu	37	3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	560					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)			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)	TTCTTCCTCTTCGGGACTGGG	0.607																																						ENST00000334444.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1678-1680)gAa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5	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)						98.0	107.0	104.0					3																	183689433		2137	4244	6381	SO:0001583	missense	10057	0	0					g.chr3:183689433T>A	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.1679A>T	chr3.hg19:g.183689433T>A	ENSP00000333926:p.Glu560Val	0					ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	p.E560V	NM_005688.2	NP_005679.2	1	2	3	1.998468	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	11	1919	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	1	1	hg19	c.1679A>T	CCDS43176.1	1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179968	0.38511	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92048	-2.74;-2.96	4.94	4.94	0.65067	4.94	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);	0.150530	0.44688	D	0.000437	D	0.90099	0.6907	L	0.61036	1.89	0.41621	D	0.988962	B;B	0.18461	0.001;0.028	B;B	0.13407	0.003;0.009	D	0.87123	0.2192	10	0.30078	T	0.28	-10.1008	15.2971	0.73916	0.0:0.0:0.0:1.0	.	560;560	Q86UX3;O15440	.;MRP5_HUMAN	V	560;496;560	ENSP00000333926:E560V;ENSP00000265586:E560V	ENSP00000265586:E560V	E	-	2	0	0	ABCC5	185172127	185172127	0.999000	0.42202	0.805000	0.32314	0.416000	0.31233	3.744000	0.55112	2.155000	0.67459	0.533000	0.62120	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_005688			78	77		366	361	1		1	1		0	0	69	0		1	9.817566e-01	0	12	0	20	0	78	366
ABCC5	10057	broad.mit.edu	37	3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	293	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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)	AGGCTGCCAACGGCTGCTGCC	0.488																																						ENST00000334444.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(877-879)Gtt>Att		ATP-binding cassette, sub-family C (CFTR/MRP), member 5	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)						48.0	49.0	49.0					3																	183700361		1885	4109	5994	SO:0001583	missense	10057	0	0					g.chr3:183700361C>T	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.877G>A	chr3.hg19:g.183700361C>T	ENSP00000333926:p.Val293Ile	0					ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	p.V293I	NM_005688.2	NP_005679.2	1	2	3	1.998468	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	7	1117	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	1	1	hg19	c.877G>A	CCDS43176.1	1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169779	0.38315	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89485	-2.52;-2.52	6.17	6.17	0.99709	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063143	0.64402	D	0.000007	T	0.81880	0.4916	N	0.16307	0.4	0.58432	D	0.999992	P;B	0.34837	0.472;0.065	B;B	0.25140	0.058;0.032	T	0.81247	-0.1019	10	0.62326	D	0.03	-17.1801	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293;293	Q86UX3;O15440	.;MRP5_HUMAN	I	293;229;293	ENSP00000333926:V293I;ENSP00000265586:V293I	ENSP00000265586:V293I	V	-	1	0	0	ABCC5	185183055	185183055	0.998000	0.40836	0.849000	0.33467	0.981000	0.71138	3.714000	0.54889	2.941000	0.99782	0.655000	0.94253	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_005688			54	52		271	266	1		1	1		0	0	78	0		1	9.711508e-01	0	15	0	16	0	54	271
HTR3D	200909	broad.mit.edu	37	3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	249					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CATCGATGCCCTCAGTTTCTA	0.552																																						ENST00000382489.3	1.000000	0.370000	8.300000e-01	4.900000e-01	0.630000	0.659992	0.630000	0.610000																										0				10						c.(745-747)Ctc>Atc		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	Ergoloid mesylate(DB01049)						105.0	88.0	93.0					3																	183755893		2203	4300	6503	SO:0001583	missense	200909	0	0					g.chr3:183755893C>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.745C>A	chr3.hg19:g.183755893C>A	ENSP00000371929:p.Leu249Ile	0					HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	p.L249I	NM_001163646.1	NP_001157118.1	1	2	3	1.998468	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	6	745	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	1	1	hg19	c.745C>A	CCDS54685.1	0	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629200	0.28978	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	3.29	2.35	0.29111	3.29	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.148834	0.45361	D	0.000362	D	0.88588	0.6477	L	0.52126	1.63	0.22401	N	0.999139	P;P;P;P	0.49307	0.726;0.922;0.673;0.922	P;P;B;P	0.55577	0.665;0.615;0.444;0.779	T	0.79322	-0.1851	10	0.41790	T	0.15	-12.8873	7.1909	0.25824	0.0:0.8478:0.0:0.1522	.	249;76;30;76	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	I	76;201;249;30	ENSP00000334315:L76I;ENSP00000405409:L201I;ENSP00000371929:L249I;ENSP00000389268:L30I	ENSP00000334315:L76I	L	+	1	0	0	HTR3D	185238587	185238587	0.998000	0.40836	0.960000	0.40013	0.008000	0.06430	0.707000	0.25704	0.652000	0.30806	0.561000	0.74099	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.227422	1	0.170000	NM_182537			16	16		291	286	0		1			0	0	43	0		9.999305e-01	0	0	0	0	0	0	16	291
HTR3D	200909	broad.mit.edu	37	3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	362					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TGTCCCACTGCGCCCCAGAAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16654	0.001		0.0	False		,,,				2504	0.0					ENST00000382489.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1084-1086)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	Ergoloid mesylate(DB01049)	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	43.0		935,1085,560	-2.3	0.0	3	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	64,64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	312/405,362/455,187/280	183756362	2,13004	2203	4300	6503	SO:0001583	missense	200909	17	121412	43				g.chr3:183756362C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1085C>T	chr3.hg19:g.183756362C>T	ENSP00000371929:p.Ala362Val	0					HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	p.A362V	NM_001163646.1	NP_001157118.1	1	2	3	1.998468	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	7	1085	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	1	1	hg19	c.1085C>T	CCDS54685.1	1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104866	0.20632	2.27E-4	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.53	-2.29	0.06805	3.53	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.580121	0.14908	N	0.291438	T	0.55146	0.1902	N	0.20807	0.61	0.09310	N	1	B;B;B;B	0.33807	0.426;0.172;0.025;0.085	B;B;B;B	0.26416	0.069;0.024;0.009;0.031	T	0.46596	-0.9180	10	0.38643	T	0.18	-1.9671	1.0791	0.01639	0.1685:0.2824:0.3314:0.2176	.	362;187;141;187	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	187;312;362;141	ENSP00000334315:A187V;ENSP00000405409:A312V;ENSP00000371929:A362V;ENSP00000389268:A141V	ENSP00000334315:A187V	A	+	2	0	0	HTR3D	185239056	185239056	0.000000	0.05858	0.007000	0.13788	0.151000	0.21798	-1.644000	0.02002	-0.276000	0.09206	0.462000	0.41574	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_182537			56	56		223	219	0		1			0	0	53	0		1	0	0	0	0	0	0	56	223
HTR3C	170572	broad.mit.edu	37	3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	302					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTTGCTCCCTGCCAGTGGCAC	0.587																																						ENST00000318351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(904-906)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	Ergoloid mesylate(DB01049)						150.0	136.0	141.0					3																	183777407		2203	4300	6503	SO:0001583	missense	170572	1	121412	34				g.chr3:183777407G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.904G>A	chr3.hg19:g.183777407G>A	ENSP00000322617:p.Ala302Thr	0						p.A302T	NM_130770.2	NP_570126.2	1	2	3	1.998468	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	7	938	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	1	1	hg19	c.904G>A	CCDS3250.1	1	.	.	.	.	.	.	.	.	.	.	.	3.979	-0.006760	0.07773	.	.	ENSG00000178084	ENST00000318351	D	0.81908	-1.55	4.09	1.1	0.20463	4.09	1.1	0.20463	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.741044	0.12903	N	0.429618	T	0.79458	0.4449	M	0.71581	2.175	0.09310	N	1	B	0.14805	0.011	B	0.29267	0.1	T	0.63857	-0.6542	10	0.22109	T	0.4	.	6.2804	0.21003	0.0929:0.0:0.5624:0.3447	.	302	Q8WXA8	5HT3C_HUMAN	T	302	ENSP00000322617:A302T	ENSP00000322617:A302T	A	+	1	0	0	HTR3C	185260101	185260101	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.477000	0.22196	0.013000	0.14918	-0.274000	0.10170	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	1	0	1		2	2	2	0		0	0	172		172	169	1	2.060000	-3.788057	1	0.170000	NM_130770			171	168		662	653	1		1			0	0	172	0		1	0	0	0	0	0	0	171	662
HTR3C	170572	broad.mit.edu	37	3	183777674	183777674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	328					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGACCGTCTTCATTACCTACC	0.572																																						ENST00000318351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(982-984)ttC>ttT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	Ergoloid mesylate(DB01049)						132.0	123.0	126.0					3																	183777674		2203	4300	6503	SO:0001819	synonymous_variant	170572	0	0					g.chr3:183777674C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.984C>T	chr3.hg19:g.183777674C>T		0						p.F328F	NM_130770.2	NP_570126.2	1	2	3	1.998468	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	8	1018	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		A2RRR5	Silent	SNP	ENST00000318351.1	1	1	hg19	c.984C>T	CCDS3250.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.592291	1	0.170000	NM_130770			93	87		366	358	1		1			0	0	97	0		1	0	0	0	0	0	0	93	366
HTR3E	285242	broad.mit.edu	37	3	183822576	183822576	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E_ENST00000425359.2_Splice_Site_p.M116V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	131					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTCCTCCAGCATGGATGTGGA	0.438																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2	1.000000	0.300000	6.700000e-01	4.000000e-01	0.510000	0.547792	0.510000	0.500000																										0				40						c.(391-393)Atg>Gtg		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	Ergoloid mesylate(DB01049)						103.0	96.0	98.0					3																	183822576		2203	4300	6503	SO:0001630	splice_region_variant	285242	0	0					g.chr3:183822576A>G	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.390-1A>G	chr3.hg19:g.183822576A>G		0					HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V|HTR3E_ENST00000425359.2_Splice_Site_p.M116V	p.M131V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	1	2	3	1.998468	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	5	857	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Splice_Site	SNP	ENST00000415389.2	1	0	hg19	c.391A>G	CCDS58868.1	0	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.378657	0.01204	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.01	3.29	2.12	0.27331	3.29	2.12	0.27331	Neurotransmitter-gated ion-channel ligand-binding (3);	0.329657	0.24405	U	0.038803	T	0.58366	0.2117	L	0.28192	0.835	0.23506	N	0.997531	B;B;B;B;B	0.17038	0.003;0.003;0.02;0.02;0.002	B;B;B;B;B	0.16289	0.008;0.01;0.015;0.015;0.006	T	0.34900	-0.9810	10	0.11485	T	0.65	.	6.6043	0.22716	0.8775:0.0:0.1225:0.0	.	157;131;131;146;116	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	131;116;146;60;131;157	ENSP00000401444:M131V;ENSP00000401900:M116V;ENSP00000335511:M146V;ENSP00000391254:M60V;ENSP00000395833:M131V;ENSP00000406050:M157V	ENSP00000335511:M146V	M	+	1	0	0	HTR3E	185305270	185305270	0.379000	0.25123	0.070000	0.20053	0.227000	0.25037	0.614000	0.24314	0.479000	0.27511	-0.326000	0.08463	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-17.504380	1	0.170000	NM_182589	Missense_Mutation		17	16		385	373	0		1			0	0	75	0		9.999566e-01	0	0	0	0	0	0	17	385
EIF2B5	8893	broad.mit.edu	37	3	183860674	183860674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	552	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507																																						ENST00000273783.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				27						c.(1654-1656)Gtg>Ttg		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							30.0	35.0	33.0					3																	183860674		2203	4300	6503	SO:0001630	splice_region_variant	8893	0	0					g.chr3:183860674G>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1654+1G>T	chr3.hg19:g.183860674G>T		0					EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	p.V552L	NM_003907.2	NP_003898.2	1	2	3	1.998468	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	11	1776	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Q541Z1|Q96D04	Splice_Site	SNP	ENST00000273783.3	1	0	hg19	c.1654G>T	CCDS3252.1	1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925822	0.52759	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83419	-1.72;-1.72	5.78	5.78	0.91487	5.78	5.78	0.91487	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.80722	D	1	B;D	0.54964	0.023;0.969	B;P	0.61275	0.004;0.886	D	0.84377	0.0547	10	0.28530	T	0.3	.	20.0055	0.97434	0.0:0.0:1.0:0.0	.	552;552	E9PC74;Q13144	.;EI2BE_HUMAN	L	552;552;308	ENSP00000273783:V552L;ENSP00000409142:V552L	ENSP00000273783:V552L	V	+	1	0	0	EIF2B5	185343368	185343368	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	7.329000	0.79170	2.722000	0.93159	0.561000	0.74099	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		25	25		106	104	1		1	1		0	0	18	0		9.999999e-01	9.999995e-01	0	5	0	106	0	25	106
DVL3	1857	broad.mit.edu	37	3	183873534	183873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L37L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				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)			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)			AGGGCGTTTTGCAGCGACCCA	0.622																																						ENST00000313143.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(109-111)ttG>ttA		dishevelled segment polarity protein 3							74.0	71.0	72.0					3																	183873534		2203	4300	6503	SO:0001819	synonymous_variant	1857	0	0					g.chr3:183873534G>A	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.111G>A	chr3.hg19:g.183873534G>A		0					DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	p.L37L	NM_004423.3	NP_004414.3	1	2	3	1.998468	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)	1	359	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	1	1	hg19	c.111G>A	CCDS3253.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_004423			74	73		334	326	0		1	1		0	0	71	0		1	9.999852e-01	0	16	0	59	0	74	334
AP2M1	1173	broad.mit.edu	37	3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000292807.5	+	9	1028	c.880C>T	c.(880-882)Cga>Tga	p.R294*	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Nonsense_Mutation_p.R292*|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	294	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				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)|negative regulation of protein localization to plasma membrane (GO:1903077)|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)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542																																						ENST00000292807.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(880-882)Cga>Tga		adaptor-related protein complex 2, mu 1 subunit							59.0	59.0	59.0					3																	183899752		2053	4194	6247	SO:0001587	stop_gained	1173	0	0					g.chr3:183899752C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.880C>T	chr3.hg19:g.183899752C>T	ENSP00000292807:p.Arg294*	0					AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000382456.3_Nonsense_Mutation_p.R292*	p.R294*	NM_004068.3	NP_004059.2	1	2	3	1.998468	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	9	1028	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		A6NE12|D3DNT1|P20172|P53679	Nonsense_Mutation	SNP	ENST00000292807.5	0	1	hg19	c.880C>T	CCDS43177.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.409621	0.97542	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	292;319;294;234;279;292;223	.	ENSP00000292807:R294X	R	+	1	2	2	AP2M1	185382446	185382446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	2.793000	0.96121	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.730179	1	0.170000	NM_004068			40	40		154	148	1		1	1		0	0	36	0		1	1	0	6	0	939	0	40	154
ABCF3	55324	broad.mit.edu	37	3	183911153	183911153	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	628	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522																																						ENST00000429586.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1882-1884)tgC>tgT		ATP-binding cassette, sub-family F (GCN20), member 3							126.0	120.0	122.0					3																	183911153		2203	4300	6503	SO:0001630	splice_region_variant	55324	0	0					g.chr3:183911153C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1884-1C>T	chr3.hg19:g.183911153C>T		0					ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	p.C628C	NM_018358.2	NP_060828.2	1	2	3	1.998468	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	20	2069	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	ENST00000429586.2	1	0	hg19	c.1884C>T	CCDS3254.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_018358	Silent		96	95		516	488	1		1	1		0	0	114	0		1	1	0	51	0	224	0	96	516
ALG3	10195	broad.mit.edu	37	3	183962463	183962463	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000397676.3	-	5	682	c.652T>C	c.(652-654)Tta>Cta	p.L218L	ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000455059.1_Silent_p.L178L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	218					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587																																						ENST00000397676.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				9						c.(652-654)Tta>Cta		ALG3, alpha-1,3- mannosyltransferase							55.0	58.0	57.0					3																	183962463		2060	4196	6256	SO:0001819	synonymous_variant	10195	0	0					g.chr3:183962463A>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.652T>C	chr3.hg19:g.183962463A>G		0					ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Silent_p.L178L|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron	p.L218L	NM_005787.5	NP_005778.1	1	2	3	1.998468	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	5	682	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	1	1	hg19	c.652T>C	CCDS46968.1	1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870045	0.17322	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.26	0.239	0.15484	5.26	0.239	0.15484	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	-4.4585	8.2378	0.31636	0.5004:0.0:0.4996:0.0	.	.	.	.	A	121	.	.	V	-	2	0	0	ALG3	185445157	185445157	0.970000	0.33590	0.011000	0.14972	0.995000	0.86356	2.013000	0.40942	0.045000	0.15804	0.379000	0.24179	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_005787			18	17		67	65	1		1	1		0	0	22	0		9.999885e-01	1	0	75	0	194	0	18	67
EIF4G1	1981	broad.mit.edu	37	3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000346169.2	+	10	974	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	235					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)			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)			TGCAGATGACCGGTCACAGGG	0.557																																						ENST00000346169.2	1.000000	0.260000	5.600000e-01	3.300000e-01	0.430000	0.468212	0.430000	0.410000																										0				75						c.(703-705)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1							83.0	81.0	82.0					3																	184039075		2203	4300	6503	SO:0001583	missense	1981	9	121412	41				g.chr3:184039075C>T	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.703C>T	chr3.hg19:g.184039075C>T	ENSP00000316879:p.Arg235Trp	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W	p.R235W	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	10	974	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.703C>T	CCDS3259.1	0	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997630	0.54147	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	3.86;3.85;3.78;0.71;2.75;2.75;3.86;2.9;3.67;3.86;3.79;3.86;3.86;3.86;3.85;2.29;3.67;0.66;3.65;0.54;1.28;3.63	5.54	3.73	0.42828	5.54	3.73	0.42828	.	0.504049	0.20782	N	0.085777	T	0.55273	0.1910	N	0.24115	0.695	0.41002	D	0.984934	B;D;D;B	0.76494	0.007;0.999;0.999;0.14	B;D;D;B	0.71870	0.002;0.975;0.952;0.015	T	0.59327	-0.7475	10	0.66056	D	0.02	-16.9319	9.9227	0.41474	0.0:0.838:0.0:0.162	.	242;235;235;242	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	235;195;148;39;235;242;242;176;71;242;148;235;235;242;195;71;71;39;39;39;39;39	ENSP00000316879:R235W;ENSP00000391935:R195W;ENSP00000376320:R148W;ENSP00000407244:R39W;ENSP00000391412:R235W;ENSP00000413159:R242W;ENSP00000371767:R242W;ENSP00000403269:R176W;ENSP00000317600:R71W;ENSP00000338020:R242W;ENSP00000407682:R148W;ENSP00000343450:R235W;ENSP00000323737:R235W;ENSP00000416255:R242W;ENSP00000395974:R195W;ENSP00000398145:R71W;ENSP00000399858:R71W;ENSP00000411707:R39W;ENSP00000411826:R39W;ENSP00000409545:R39W;ENSP00000399969:R39W;ENSP00000404754:R39W	ENSP00000323737:R235W	R	+	1	2	2	EIF4G1	185521769	185521769	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.261000	0.32980	1.585000	0.49928	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0		2	2	2	0		0	0	104		104	102	1	2.060000	-2.602727	1	0.170000	NM_182917			18	16		490	477	0		1	1		0	0	104	0		9.999771e-01	9.996711e-01	0	32	0	323	0	18	490
EIF4G1	1981	broad.mit.edu	37	3	184039152	184039152	+	Silent	SNP	G	G	A	rs371776051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039152G>A	ENST00000346169.2	+	10	1051	c.780G>A	c.(778-780)tcG>tcA	p.S260S	EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000342981.4_Silent_p.S260S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000392537.2_Silent_p.S173S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	260					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)			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)			CCCAGCCTTCGTCGCCTTCTC	0.572																																						ENST00000346169.2	1.000000	0.100000	3.100000e-01	1.400000e-01	0.210000	0.262784	0.210000	0.200000																										0				75						c.(778-780)tcG>tcA		eukaryotic translation initiation factor 4 gamma, 1		G	,,,,,,	0,4406		0,0,2203	76.0	79.0	78.0		801,801,192,780,780,288,519	-6.9	0.8	3		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	267/1607,267/1607,64/1405,260/1601,260/1600,96/1436,173/1513	184039152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1981	2	121412	33				g.chr3:184039152G>A	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.780G>A	chr3.hg19:g.184039152G>A		0					EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000342981.4_Silent_p.S260S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000424196.1_Silent_p.S267S	p.S260S	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	10	1051	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	0	1	hg19	c.780G>A	CCDS3259.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0		2	2	2	0		0	0	121		121	119	1	2.060000	-3.225389	1	0.170000	NM_182917			9	9		524	504	0		1	1		0	0	121	0		9.931478e-01	9.941412e-01	0	12	0	518	0	9	524
EIF4G1	1981	broad.mit.edu	37	3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000346169.2	+	13	2077	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	602	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			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)			ATCAGTGGAAGCCTCTAAACC	0.448																																						ENST00000346169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1804-1806)aaG>aaT		eukaryotic translation initiation factor 4 gamma, 1							151.0	146.0	148.0					3																	184040619		2203	4300	6503	SO:0001583	missense	1981	0	0					g.chr3:184040619G>T	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.1806G>T	chr3.hg19:g.184040619G>T	ENSP00000316879:p.Lys602Asn	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N	p.K602N	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	13	2077	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.1806G>T	CCDS3259.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132163	0.56828	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.4	4.53	0.55603	5.4	4.53	0.55603	.	0.048738	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62016	1.91	0.58432	D	0.999993	D;D;D;D	0.56287	0.975;0.975;0.957;0.975	P;P;P;P	0.57468	0.821;0.821;0.65;0.821	T	0.55036	-0.8203	10	0.36615	T	0.2	-16.0527	8.6956	0.34293	0.2243:0.0:0.7757:0.0	.	609;602;602;609	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	602;562;515;602;609;609;543;438;609;515;602;602;609;562;438;438;406;406	ENSP00000316879:K602N;ENSP00000391935:K562N;ENSP00000376320:K515N;ENSP00000391412:K602N;ENSP00000413159:K609N;ENSP00000371767:K609N;ENSP00000403269:K543N;ENSP00000317600:K438N;ENSP00000338020:K609N;ENSP00000407682:K515N;ENSP00000343450:K602N;ENSP00000323737:K602N;ENSP00000416255:K609N;ENSP00000395974:K562N;ENSP00000398145:K438N;ENSP00000399858:K438N;ENSP00000411826:K406N;ENSP00000404754:K406N	ENSP00000323737:K602N	K	+	3	2	2	EIF4G1	185523313	185523313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.556000	0.45862	1.525000	0.49052	0.563000	0.77884	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-20.000000	1	0.170000	NM_182917			112	109		452	447	1		1	1		0	0	139	0		1	1	0	183	0	564	0	112	452
EIF4G1	1981	broad.mit.edu	37	3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000346169.2	+	17	2832	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	eIF3/EIF4A-binding.				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)			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)			TTTGAGAAAGACAAAGATGAT	0.443																																						ENST00000346169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2560-2562)gAc>gGc		eukaryotic translation initiation factor 4 gamma, 1							158.0	150.0	152.0					3																	184042077		2203	4300	6503	SO:0001583	missense	1981	0	0					g.chr3:184042077A>G	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.2561A>G	chr3.hg19:g.184042077A>G	ENSP00000316879:p.Asp854Gly	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G	p.D854G	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	17	2832	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.2561A>G	CCDS3259.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492538	0.84962	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.71	5.71	0.89125	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.30510	0.0767	N	0.26130	0.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.988;0.994	D;D;D;D	0.81914	0.995;0.947;0.934;0.971	T	0.03651	-1.1016	10	0.08381	T	0.77	-19.4074	16.3019	0.82825	1.0:0.0:0.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	G	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854G;ENSP00000391935:D814G;ENSP00000376320:D767G;ENSP00000413159:D862G;ENSP00000371767:D861G;ENSP00000403269:D795G;ENSP00000317600:D690G;ENSP00000338020:D861G;ENSP00000407682:D768G;ENSP00000343450:D855G;ENSP00000323737:D854G;ENSP00000416255:D861G;ENSP00000395974:D815G;ENSP00000398145:D690G;ENSP00000399858:D691G;ENSP00000411826:D659G;ENSP00000404754:D658G	ENSP00000323737:D854G	D	+	2	0	0	EIF4G1	185524771	185524771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.297000	0.96120	2.317000	0.78254	0.459000	0.35465	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-20.000000	1	0.170000	NM_182917			90	90		477	468	1		1	1		0	0	115	0		1	1	0	146	0	461	0	90	477
EIF4G1	1981	broad.mit.edu	37	3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T	rs369412977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000346169.2	+	24	3848	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1193					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)			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)			AGTGGAGGAGCGGAGTAGAGA	0.672																																						ENST00000346169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(3577-3579)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	38.0	42.0	40.0		3598,3598,2992,3580,3577,3085,3316	4.3	1.0	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1200/1607,1200/1607,998/1405,1194/1601,1193/1600,1029/1436,1106/1513	184045152	1,13005	2203	4300	6503	SO:0001583	missense	1981	7	121410	38				g.chr3:184045152C>T	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.3577C>T	chr3.hg19:g.184045152C>T	ENSP00000316879:p.Arg1193Trp	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W	p.R1193W	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	24	3848	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.3577C>T	CCDS3259.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444943	0.83993	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.81;3.8;3.72;3.8;3.62;3.8;3.72;3.79;3.81;3.8;3.8;3.61;3.59;3.59	5.2	4.33	0.51752	5.2	4.33	0.51752	.	0.316936	0.33753	N	0.004598	T	0.11281	0.0275	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.96;0.96	T	0.02893	-1.1097	10	0.62326	D	0.03	-14.8784	8.8632	0.35269	0.1826:0.7382:0.0:0.0792	.	1200;1194;1193	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1193;1153;1106;1200;1029;1200;1107;1194;1193;1200;1154;1030;998;997	ENSP00000316879:R1193W;ENSP00000391935:R1153W;ENSP00000376320:R1106W;ENSP00000371767:R1200W;ENSP00000317600:R1029W;ENSP00000338020:R1200W;ENSP00000407682:R1107W;ENSP00000343450:R1194W;ENSP00000323737:R1193W;ENSP00000416255:R1200W;ENSP00000395974:R1154W;ENSP00000399858:R1030W;ENSP00000411826:R998W;ENSP00000404754:R997W	ENSP00000323737:R1193W	R	+	1	2	2	EIF4G1	185527846	185527846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.422000	0.47177	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.003770	1	0.170000	NM_182917			59	59		289	278	1		1	1		0	0	65	0		1	1	0	153	0	416	0	59	289
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000346169.2	+	27	4283	c.4012C>A	c.(4012-4014)Ctc>Atc	p.L1338I	EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			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)			CCACGTGTGGCTCTACCTAGC	0.532																																						ENST00000346169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(4012-4014)Ctc>Atc		eukaryotic translation initiation factor 4 gamma, 1							139.0	138.0	138.0					3																	184046477		2203	4300	6503	SO:0001583	missense	1981	0	0					g.chr3:184046477C>A	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.4012C>A	chr3.hg19:g.184046477C>A	ENSP00000316879:p.Leu1338Ile	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I	p.L1338I	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	27	4283	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.4012C>A	CCDS3259.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.196356	0.94960	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.69	5.69	0.88448	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	D	0.000005	T	0.68284	0.2984	M	0.80028	2.48	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	0.66416	-0.5929	10	0.38643	T	0.18	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	I	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338I;ENSP00000391935:L1298I;ENSP00000376320:L1251I;ENSP00000371767:L1345I;ENSP00000317600:L1174I;ENSP00000338020:L1345I;ENSP00000407682:L1252I;ENSP00000343450:L1339I;ENSP00000323737:L1338I;ENSP00000416255:L1345I;ENSP00000395974:L1299I;ENSP00000399858:L1175I;ENSP00000411826:L1143I;ENSP00000404754:L1142I	ENSP00000323737:L1338I	L	+	1	0	0	EIF4G1	185529171	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_182917			135	131		565	558	1		1	1		0	0	139	0		1	1	0	170	0	422	0	135	565
EIF4G1	1981	broad.mit.edu	37	3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000346169.2	+	33	4931	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|FAM131A_ENST00000450976.1_5'Flank|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1554	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				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)			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)			TGACGAGGACGTGGTGAAGGA	0.592																																						ENST00000346169.2	1.000000	0.810000	1	9.500000e-01	0.990000	0.980370	0.990000	1.000000																										0				75						c.(4660-4662)Gtg>Atg		eukaryotic translation initiation factor 4 gamma, 1							135.0	114.0	122.0					3																	184052556		2203	4300	6503	SO:0001583	missense	1981	1	121412	33				g.chr3:184052556G>A	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.4660G>A	chr3.hg19:g.184052556G>A	ENSP00000316879:p.Val1554Met	0					EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|FAM131A_ENST00000450976.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|FAM131A_ENST00000383847.2_5'Flank|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M	p.V1554M	NM_198241.2	NP_937884	1	2	3	1.998468	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	33	4931	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	1	1	hg19	c.4660G>A	CCDS3259.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.15	2.35	0.29111	4.15	2.35	0.29111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.071082	0.56097	N	0.000034	D	0.91971	0.7457	M	0.89601	3.045	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.951;0.961;0.961	D	0.91105	0.4917	10	0.87932	D	0	-3.1884	9.4062	0.38462	0.1802:0.0:0.8198:0.0	.	1561;1555;1554	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	M	1554;1514;1467;1561;1390;1561;1468;1555;1554;1561;1515;1391;1359;1358	ENSP00000316879:V1554M;ENSP00000391935:V1514M;ENSP00000376320:V1467M;ENSP00000371767:V1561M;ENSP00000317600:V1390M;ENSP00000338020:V1561M;ENSP00000407682:V1468M;ENSP00000343450:V1555M;ENSP00000323737:V1554M;ENSP00000416255:V1561M;ENSP00000395974:V1515M;ENSP00000399858:V1391M;ENSP00000411826:V1359M;ENSP00000404754:V1358M	ENSP00000323737:V1554M	V	+	1	0	0	EIF4G1	185535250	185535250	1.000000	0.71417	0.568000	0.28447	0.917000	0.54804	7.675000	0.84002	0.409000	0.25649	0.555000	0.69702	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-13.565300	1	0.170000	NM_182917			43	44		418	412	1		1	1		0	0	89	0		1	1	0	130	0	743	0	43	418
FAM131A	131408	broad.mit.edu	37	3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000310585.4	+	3	1971	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	203						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642																																						ENST00000310585.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(607-609)Cgc>Tgc		family with sequence similarity 131, member A							49.0	57.0	54.0					3																	184062357		2203	4300	6503	SO:0001583	missense	131408	0	0					g.chr3:184062357C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.607C>T	chr3.hg19:g.184062357C>T	ENSP00000310135:p.Arg203Cys	0					FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C	p.R203C			1	2	3	1.998468	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	3	1971	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	1	1	hg19	c.607C>T		1	.	.	.	.	.	.	.	.	.	.	c	18.84	3.709851	0.68730	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.424092	0.24962	N	0.034217	T	0.45438	0.1342	L	0.47716	1.5	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.911;0.995	T	0.18398	-1.0338	10	0.44086	T	0.13	-16.6087	17.3588	0.87344	0.0:1.0:0.0:0.0	.	203;234;111	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	C	149;111;149;149;234;149;203	ENSP00000388551:R149C;ENSP00000414050:R111C;ENSP00000340974:R149C;ENSP00000414913:R149C;ENSP00000373360:R234C;ENSP00000390588:R149C;ENSP00000310135:R203C	ENSP00000310135:R203C	R	+	1	0	0	FAM131A	185545051	185545051	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.204000	0.51082	2.539000	0.85634	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_144635			144	142		513	504	1		1	1		0	0	102	0		1	9.999995e-01	0	20	0	55	0	144	513
CLCN2	1181	broad.mit.edu	37	3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000265593.4	-	24	2678	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	836	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612																																						ENST00000265593.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2506-2508)cGg>cAg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						46.0	48.0	47.0					3																	184064584		2203	4300	6503	SO:0001583	missense	1181	4	121412	35				g.chr3:184064584C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2507G>A	chr3.hg19:g.184064584C>T	ENSP00000265593:p.Arg836Gln	0					CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q	p.R836Q	NM_004366.5	NP_004357.3	1	2	3	1.998468	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	24	2678	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	1	1	hg19	c.2507G>A	CCDS3263.1	1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259738	0.80246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-1.94	5.51	4.64	0.57946	5.51	4.64	0.57946	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	L	0.41492	1.28	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;0.997;0.983;0.999;0.99	D	0.92637	0.6121	10	0.25751	T	0.34	-16.6565	14.3172	0.66460	0.0:0.9285:0.0:0.0715	.	792;807;819;836;792	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	836;819;792;807	ENSP00000265593:R836Q;ENSP00000345056:R819Q;ENSP00000400425:R792Q;ENSP00000391928:R807Q	ENSP00000265593:R836Q	R	-	2	0	0	CLCN2	185547278	185547278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	1.340000	0.45581	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.180500	1	0.170000				79	78		318	312	1		1	1		0	0	59	0		1	9.695753e-01	0	8	0	17	0	79	318
CLCN2	1181	broad.mit.edu	37	3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000265593.4	-	15	1700	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000475279.1_5'Flank|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	510					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265593.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1528-1530)gCg>gTg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	50.0	39.0	43.0		1478,1397,1529,1529	5.1	1.0	3	dbSNP_134	43	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	64,64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	493/882,466/855,510/870,510/899	184072081	2,13002	2202	4300	6502	SO:0001583	missense	1181	5	121382	35				g.chr3:184072081G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1529C>T	chr3.hg19:g.184072081G>A	ENSP00000265593:p.Ala510Val	0		OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|CLCN2_ENST00000475279.1_5'Flank	p.A510V	NM_004366.5	NP_004357.3	1	2	3	1.998468	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	15	1700	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	1	1	hg19	c.1529C>T	CCDS3263.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.197962|5.197962	0.94997|0.94997	0.0|0.0	2.33E-4|2.33E-4	ENSG00000114859|ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512|ENST00000423355	D;D;D;D|T	0.95171|0.70399	-3.63;-3.63;-3.63;-3.63|-0.48	5.14|5.14	5.14|5.14	0.70334|0.70334	5.14|5.14	5.14|5.14	0.70334|0.70334	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	L|L	0.53561|0.53561	1.675|1.675	0.41557|0.41557	D|D	0.988604|0.988604	D;P;P;B;B|.	0.52996|.	0.957;0.558;0.948;0.415;0.204|.	P;B;P;B;B|.	0.48400|.	0.568;0.158;0.576;0.158;0.075|.	T|T	0.81575|0.81575	-0.0870|-0.0870	10|7	0.87932|0.87932	D|D	0|0	-3.6081|-3.6081	18.2333|18.2333	0.89941|0.89941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466;510;493;510;466|.	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58|.	.;.;.;CLCN2_HUMAN;.|.	V|W	510;493;466;510|126	ENSP00000265593:A510V;ENSP00000345056:A493V;ENSP00000400425:A466V;ENSP00000391928:A510V|ENSP00000412226:R126W	ENSP00000265593:A510V|ENSP00000412226:R126W	A|R	-|-	2|1	0|2	0|2	CLCN2|CLCN2	185554775|185554775	185554775|185554775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.768000|9.768000	0.98965|0.98965	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.998370	1	0.170000				36	35		146	139	1		1	1		0	0	41	0		1	9.756338e-01	0	13	0	14	0	36	146
CLCN2	1181	broad.mit.edu	37	3	184079203	184079203	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000265593.4	-	1	235		c.e1+1		POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000457512.1_Splice_Site|CLCN2_ENST00000344937.7_Splice_Site|POLR2H_ENST00000429568.1_5'Flank|CLCN2_ENST00000434054.2_Splice_Site|CLCN2_ENST00000423355.2_Splice_Site|POLR2H_ENST00000443489.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2						cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687																																						ENST00000265593.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.e1+1		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						60.0	62.0	61.0					3																	184079203		2203	4300	6503	SO:0001630	splice_region_variant	1181	0	0					g.chr3:184079203A>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.63+1T>C	chr3.hg19:g.184079203A>G		0					POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank|CLCN2_ENST00000457512.1_Splice_Site|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000344937.7_Splice_Site|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000423355.2_Splice_Site|POLR2H_ENST00000430783.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Splice_Site|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000438240.1_5'Flank		NM_004366.5	NP_004357.3	1	2	3	1.998468	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	1	235	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Splice_Site	SNP	ENST00000265593.4	1	1	hg19		CCDS3263.1	1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180565	0.21787	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	3.81	3.81	0.43845	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2202	0.37373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CLCN2	185561897	185561897	0.998000	0.40836	0.998000	0.56505	0.088000	0.18126	1.702000	0.37836	1.742000	0.51746	0.370000	0.22315	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000		Intron		64	63		362	357	1		1	0		0	0	59	0		1	0	0	1	0	0	0	64	362
THPO	7066	broad.mit.edu	37	3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_ENST00000445696.2_Missense_Mutation_p.G278S|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000421442.2_Missense_Mutation_p.R243K|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	282					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)			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)			GGCAGGGAGCCTGTGTCTGAT	0.567																																						ENST00000204615.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(844-846)Ggc>Agc		thrombopoietin							197.0	210.0	205.0					3																	184090519		2203	4300	6503	SO:0001583	missense	7066	0	0					g.chr3:184090519C>T		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.844G>A	chr3.hg19:g.184090519C>T	ENSP00000204615:p.Gly282Ser	0					THPO_ENST00000445696.2_Missense_Mutation_p.G278S|THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.R243K	p.G282S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	1	2	3	1.998468	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	6	1058	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	1	1	hg19	c.844G>A	CCDS3265.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090015|3.090015	0.55968|0.55968	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.33654|0.37058	1.4;1.4|1.22	4.3|4.3	2.31|2.31	0.28768|0.28768	4.3|4.3	2.31|2.31	0.28768|0.28768	Four-helical cytokine, core (1);|.	0.571172|.	0.15959|.	N|.	0.236359|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|B	0.25563|0.21606	0.129;0.079|0.058	B;B|B	0.20767|0.22601	0.031;0.014|0.04	T|T	0.19386|0.19386	-1.0307|-1.0307	10|9	0.45353|0.26408	T|T	0.12|0.33	-16.674|-16.674	5.3085|5.3085	0.15817|0.15817	0.0:0.7299:0.0:0.2701|0.0:0.7299:0.0:0.2701	.|.	278;282|243	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	282;278;243|243	ENSP00000204615:G282S;ENSP00000410763:G278S|ENSP00000411704:R243K	ENSP00000204615:G282S|ENSP00000411704:R243K	G|R	-|-	1|2	0|0	0|0	THPO|THPO	185573213|185573213	185573213|185573213	0.009000|0.009000	0.17119|0.17119	0.321000|0.321000	0.25320|0.25320	0.797000|0.797000	0.45037|0.45037	0.824000|0.824000	0.27379|0.27379	1.020000|1.020000	0.39573|0.39573	0.467000|0.467000	0.42956|0.42956	GGC|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	1	0	1		2	2	2	0		0	0	180		180	178	1	2.060000	-20.000000	1	0.170000	NM_000460			196	191		821	787	1		1	0		0	0	180	0		1	2.493376e-01	0	0	0	5	0	196	821
CHRD	8646	broad.mit.edu	37	3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000204604.1	+	14	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	586	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592																																						ENST00000204604.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1756-1758)Ctc>Ttc		chordin							83.0	86.0	85.0					3																	184102964		2203	4300	6503	SO:0001583	missense	8646	0	0					g.chr3:184102964C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1756C>T	chr3.hg19:g.184102964C>T	ENSP00000204604:p.Leu586Phe	0					CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F	p.L586F	NM_003741.2	NP_003732.2	1	2	3	1.998468	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	14	2002	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	1	1	hg19	c.1756C>T	CCDS3266.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191675	0.78902	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.29	5.29	0.74685	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.39692	1.235	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.91635	0.999;0.991;0.817;0.995	T	0.55198	-0.8178	10	0.51188	T	0.08	-22.5074	16.8087	0.85712	0.0:1.0:0.0:0.0	.	216;546;586;586	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	F	586;586;546;216;299	ENSP00000204604:L586F;ENSP00000408972:L586F;ENSP00000334036:L546F;ENSP00000442948:L216F	ENSP00000204604:L586F	L	+	1	0	0	CHRD	185585658	185585658	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.067000	0.64357	2.662000	0.90505	0.655000	0.94253	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-3.424639	1	0.170000	NM_003741			150	148		646	625	1		1	0		0	0	122	0		1	8.567729e-01	0	0	0	17	0	150	646
SATB1	6304	broad.mit.edu	37	3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000338745.6	-	9	3178	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	482					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)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393																																						ENST00000338745.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1444-1446)Gaa>Taa		SATB homeobox 1							216.0	213.0	214.0					3																	18419793		2203	4300	6503	SO:0001587	stop_gained	6304	0	0					g.chr3:18419793C>A		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.1444G>T	chr3.hg19:g.18419793C>A	ENSP00000341024:p.Glu482*	0					SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	p.E482*	NM_002971.4	NP_002962.1	1	2	3	1.998468	Q01826	SATB1_HUMAN		9	3178	-			B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	ENST00000338745.6	0	1	hg19	c.1444G>T	CCDS2631.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.317731	0.99135	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9854	19.6513	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000341024:E482X	E	-	1	0	0	SATB1	18394797	18394797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.704000	0.92352	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1		2	2	2	0		0	0	207		207	205	1	2.060000	-20.000000	1	0.170000	NM_001131010			174	167		776	763	0		1	0		0	0	207	0		1	9.865462e-01	0	0	0	32	0	174	776
CHRD	8646	broad.mit.edu	37	3	184104362	184104362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	ENST00000204604.1	+	16	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	672					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGGGCTCCGGATACAGCC	0.716																																						ENST00000204604.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999830	0.990000	1.000000																										0				48						c.(2014-2016)cCg>cTg		chordin							4.0	5.0	5.0					3																	184104362		1892	3854	5746	SO:0001583	missense	8646	8	116712	32				g.chr3:184104362C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2015C>T	chr3.hg19:g.184104362C>T	ENSP00000204604:p.Pro672Leu	0					CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	p.P672L	NM_003741.2	NP_003732.2	1	2	3	1.998468	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	16	2261	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	1	1	hg19	c.2015C>T	CCDS3266.1	1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823859	0.32237	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14640	2.73;2.5;2.49	4.58	-5.2	0.02823	4.58	-5.2	0.02823	.	1.971630	0.02221	N	0.064057	T	0.07908	0.0198	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.15719	0.014;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.003	T	0.25398	-1.0133	10	0.23891	T	0.37	-0.2546	2.0571	0.03583	0.1457:0.3244:0.106:0.424	.	632;672;672	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	L	672;672;632;385	ENSP00000204604:P672L;ENSP00000408972:P672L;ENSP00000334036:P632L	ENSP00000204604:P672L	P	+	2	0	0	CHRD	185587056	185587056	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.745000	0.04834	-0.742000	0.04790	-0.232000	0.12228	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_003741			17	17		74	72	0		1	0		0	0	15	0		9.999776e-01	1.008922e-01	0	0	0	3	0	17	74
EPHB3	2049	broad.mit.edu	37	3	184290513	184290513	+	Silent	SNP	C	C	T	rs541541992	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290513C>T	ENST00000330394.2	+	3	857	c.405C>T	c.(403-405)taC>taT	p.Y135Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	135	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCTTCTACTACGAGGCTGACA	0.587													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20658	0.0		0.0	False		,,,				2504	0.0					ENST00000330394.2	1.000000	0.140000	4.600000e-01	2.100000e-01	0.310000	0.363503	0.310000	0.290000																										0				51						c.(403-405)taC>taT		EPH receptor B3							66.0	64.0	64.0					3																	184290513		2203	4300	6503	SO:0001819	synonymous_variant	2049	5	121410	37				g.chr3:184290513C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.405C>T	chr3.hg19:g.184290513C>T		0					EIF2B5_ENST00000444495.1_Intron	p.Y135Y	NM_004443.3	NP_004434.2	1	2	3	1.998468	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)	3	857	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Q7Z740	Silent	SNP	ENST00000330394.2	0	1	hg19	c.405C>T	CCDS3268.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-8.360312	1	0.170000	NM_004443			8	8		312	312	0		1	1		0	0	58	0		9.895993e-01	1.667904e-01	0	2	0	24	0	8	312
EPHB3	2049	broad.mit.edu	37	3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A	rs187877110	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	217	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.A217T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19936	0.002		0.0	False		,,,				2504	0.0					ENST00000330394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A217T(1)	stomach(1)	51						c.(649-651)Gca>Aca		EPH receptor B3							56.0	58.0	57.0					3																	184290757		2203	4300	6503	SO:0001583	missense	2049	8	121396	40				g.chr3:184290757G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.649G>A	chr3.hg19:g.184290757G>A	ENSP00000332118:p.Ala217Thr	0					EIF2B5_ENST00000444495.1_Intron	p.A217T	NM_004443.3	NP_004434.2	1	2	3	1.998468	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)	3	1101	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	1	1	hg19	c.649G>A	CCDS3268.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.4	4.638959	0.87760	.	.	ENSG00000182580	ENST00000330394	T	0.73258	-0.73	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.056206	0.64402	D	0.000001	T	0.78824	0.4344	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79706	-0.1691	10	0.52906	T	0.07	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	217	P54753	EPHB3_HUMAN	T	217	ENSP00000332118:A217T	ENSP00000332118:A217T	A	+	1	0	0	EPHB3	185773451	185773451	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.872000	0.87187	2.445000	0.82738	0.561000	0.74099	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.355915	1	0.170000	NM_004443			72	72		346	343	1		1	1		0	0	67	0		1	9.824361e-01	0	7	0	26	0	72	346
EPHB3	2049	broad.mit.edu	37	3	184297593	184297593	+	Silent	SNP	C	C	T	rs568698784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16194	0.0		0.0	False		,,,				2504	0.001					ENST00000330394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2041-2043)agC>agT		EPH receptor B3							72.0	66.0	68.0					3																	184297593		2203	4300	6503	SO:0001819	synonymous_variant	2049	4	121412	34				g.chr3:184297593C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2043C>T	chr3.hg19:g.184297593C>T		0					EIF2B5_ENST00000444495.1_Intron	p.S681S	NM_004443.3	NP_004434.2	1	2	3	1.998468	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)	11	2495	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Q7Z740	Silent	SNP	ENST00000330394.2	1	1	hg19	c.2043C>T	CCDS3268.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_004443			83	82		345	330	1		1	1		0	0	71	0		1	9.995804e-01	0	14	0	36	0	83	345
EPHB3	2049	broad.mit.edu	37	3	184298910	184298910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184298910C>T	ENST00000330394.2	+	14	3141	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	897					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAAGCTCATCCGCAATGCTGC	0.587																																						ENST00000330394.2	1.000000	0.100000	3.200000e-01	1.500000e-01	0.220000	0.275398	0.220000	0.210000																										0				51						c.(2689-2691)Cgc>Tgc		EPH receptor B3							82.0	94.0	90.0					3																	184298910		2203	4300	6503	SO:0001583	missense	2049	1	121412	31				g.chr3:184298910C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2689C>T	chr3.hg19:g.184298910C>T	ENSP00000332118:p.Arg897Cys	0					EIF2B5_ENST00000444495.1_Intron	p.R897C	NM_004443.3	NP_004434.2	1	2	3	1.998468	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)	14	3141	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	0	1	hg19	c.2689C>T	CCDS3268.1	0	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345770	0.61073	.	.	ENSG00000182580	ENST00000330394	T	0.62639	0.01	3.9	3.0	0.34707	3.9	3.0	0.34707	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84958	0.0875	10	0.87932	D	0	.	13.1962	0.59740	0.0:0.8382:0.1618:0.0	.	897	P54753	EPHB3_HUMAN	C	897	ENSP00000332118:R897C	ENSP00000332118:R897C	R	+	1	0	0	EPHB3	185781604	185781604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	0.940000	0.37473	0.478000	0.44815	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	0	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-2.472695	0	0.170000	NM_004443			9	9		493	476	0		1	1		0	0	100	0		9.933314e-01	2.755331e-01	0	2	0	50	0	9	493
SATB1	6304	broad.mit.edu	37	3	18456684	18456684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000338745.6	-	5	2292	c.558C>T	c.(556-558)caC>caT	p.H186H	SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	186	PDZ-like dimerization domain.				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)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACTGTGGTGTGCGACCATT	0.448																																						ENST00000338745.6	1.000000	0.600000	1	7.400000e-01	0.900000	0.882392	0.900000	1.000000																										0				32						c.(556-558)caC>caT		SATB homeobox 1							117.0	106.0	110.0					3																	18456684		2203	4300	6503	SO:0001819	synonymous_variant	6304	0	0					g.chr3:18456684G>A		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.558C>T	chr3.hg19:g.18456684G>A		0					SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.H186H	NM_002971.4	NP_002962.1	1	2	3	1.998468	Q01826	SATB1_HUMAN		5	2292	-			B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	1	1	hg19	c.558C>T	CCDS2631.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-8.444536	1	0.170000	NM_001131010			27	26		332	325	0		1	0		0	0	55	0		1	7.522772e-01	0	0	0	35	0	27	332
SATB1	6304	broad.mit.edu	37	3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000338745.6	-	4	2152	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	140	PDZ-like dimerization domain.				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)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393																																						ENST00000338745.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(418-420)Gtt>Ttt		SATB homeobox 1							105.0	96.0	99.0					3																	18457596		2203	4300	6503	SO:0001583	missense	6304	0	0					g.chr3:18457596C>A		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.418G>T	chr3.hg19:g.18457596C>A	ENSP00000341024:p.Val140Phe	0					SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.V140F	NM_002971.4	NP_002962.1	1	2	3	1.998468	Q01826	SATB1_HUMAN		4	2152	-			B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	1	1	hg19	c.418G>T	CCDS2631.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713023	0.68730	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.47716	1.5	0.80722	D	1	D;P	0.65815	0.995;0.941	D;P	0.65233	0.933;0.632	D	0.85488	0.1183	10	0.72032	D	0.01	-7.4249	19.7401	0.96223	0.0:1.0:0.0:0.0	.	140;140	Q01826-2;Q01826	.;SATB1_HUMAN	F	140	ENSP00000341024:V140F;ENSP00000399708:V140F;ENSP00000399518:V140F;ENSP00000402982:V140F;ENSP00000406727:V140F;ENSP00000390529:V140F	ENSP00000341024:V140F	V	-	1	0	0	SATB1	18432600	18432600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.727000	0.93392	0.591000	0.81541	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001131010			78	76		310	307	1		1	0		0	0	76	0		1	9.960857e-01	0	0	0	36	0	78	310
SATB1	6304	broad.mit.edu	37	3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000338745.6	-	2	1841	c.107A>G	c.(106-108)aAc>aGc	p.N36S	SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	36					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)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512																																						ENST00000338745.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(106-108)aAc>aGc		SATB homeobox 1							135.0	140.0	138.0					3																	18462353		2203	4300	6503	SO:0001583	missense	6304	0	0					g.chr3:18462353T>C		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.107A>G	chr3.hg19:g.18462353T>C	ENSP00000341024:p.Asn36Ser	0					SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron	p.N36S	NM_002971.4	NP_002962.1	1	2	3	1.998468	Q01826	SATB1_HUMAN		2	1841	-			B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	1	1	hg19	c.107A>G	CCDS2631.1	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699728	0.88924	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	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	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.044474	0.85682	D	0.000000	T	0.77532	0.4144	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.917	T	0.79708	-0.1690	10	0.87932	D	0	-19.257	16.0363	0.80631	0.0:0.0:0.0:1.0	.	36;36	Q01826-2;Q01826	.;SATB1_HUMAN	S	36	ENSP00000341024:N36S;ENSP00000399708:N36S;ENSP00000399518:N36S;ENSP00000402982:N36S;ENSP00000406727:N36S;ENSP00000390529:N36S;ENSP00000398072:N36S;ENSP00000408871:N36S;ENSP00000391344:N36S	ENSP00000341024:N36S	N	-	2	0	0	SATB1	18437357	18437357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-20.000000	1	0.170000	NM_001131010			146	145		658	649	1		1	0		0	0	126	0		1	9.897554e-01	0	1	0	33	0	146	658
EPHB3	2049	broad.mit.edu	37	3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	rs200546160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17860	0.0		0.001	False		,,,				2504	0.0					ENST00000330394.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				51						c.(2977-2979)aCg>aTg		EPH receptor B3							41.0	39.0	40.0					3																	184299391		2203	4300	6503	SO:0001583	missense	2049	1	121382	26				g.chr3:184299391C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2978C>T	chr3.hg19:g.184299391C>T	ENSP00000332118:p.Thr993Met	0					EIF2B5_ENST00000444495.1_Intron	p.T993M	NM_004443.3	NP_004434.2	1	2	3	1.998468	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)	16	3430	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	1	1	hg19	c.2978C>T	CCDS3268.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.94	3.259532	0.59321	.	.	ENSG00000182580	ENST00000330394	T	0.06528	3.29	4.36	4.36	0.52297	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.16307	0.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.20519	T	0.43	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	993	P54753	EPHB3_HUMAN	M	993	ENSP00000332118:T993M	ENSP00000332118:T993M	T	+	2	0	0	EPHB3	185782085	185782085	0.999000	0.42202	0.981000	0.43875	0.946000	0.59487	4.054000	0.57434	2.378000	0.81104	0.643000	0.83706	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_004443			26	26		100	100	1		1	1		0	0	29	0		1	9.992840e-01	0	12	0	36	0	26	100
VPS8	23355	broad.mit.edu	37	3	184766325	184766325	+	Missense_Mutation	SNP	G	G	A	rs16859527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	ENST00000437079.3	+	47	4286	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1372			R -> H (in dbSNP:rs16859527).				zinc ion binding (GO:0008270)			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)			CAGCTTTGCCGTCTCTACCGA	0.418													G|||	58	0.0115815	0.0	0.0	5008	,	,		22458	0.0565		0.0	False		,,,				2504	0.001					ENST00000437079.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(4114-4116)cGt>cAt		vacuolar protein sorting 8 homolog (S. cerevisiae)							170.0	163.0	165.0					3																	184766325		1854	4107	5961	SO:0001583	missense	23355	319	120804	57				g.chr3:184766325G>A	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.4115G>A	chr3.hg19:g.184766325G>A	ENSP00000397879:p.Arg1372His	0					VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H|VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H	p.R1372H	NM_001009921.2	NP_001009921.1	1	2	3	1.998468	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)	47	4286	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	1	0	hg19	c.4115G>A	CCDS46971.1	1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	14.82	2.650495	0.47362	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	6.08	1.24	0.21308	6.08	1.24	0.21308	.	0.363435	0.32015	N	0.006719	T	0.04634	0.0126	L	0.40543	1.245	0.31810	N	0.627244	P;B;P	0.38440	0.631;0.346;0.56	B;B;B	0.33690	0.095;0.168;0.096	T	0.08269	-1.0730	10	0.45353	T	0.12	-26.1371	8.6392	0.33968	0.3793:0.0:0.6207:0.0	rs16859527;rs52799081;rs16859527	1372;1280;1370	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	1372;1372;1370;1280	ENSP00000287546:R1372H;ENSP00000397879:R1372H;ENSP00000404704:R1370H;ENSP00000405483:R1280H	ENSP00000287546:R1372H	R	+	2	0	0	VPS8	186249019	186249019	0.608000	0.26966	0.388000	0.26195	0.997000	0.91878	0.587000	0.23909	-0.049000	0.13379	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-2.754107	1	0.170000	NM_015303			90	87		395	388	1		1	1		0	0	83	0		1	9.999966e-01	0	21	0	60	0	90	395
MAP3K13	9175	broad.mit.edu	37	3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R478W(2)|p.R478R(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478																																						ENST00000265026.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(2)|Substitution - coding silent(1)	p.R478W(2)|p.R478R(1)	large_intestine(3)	54						c.(1432-1434)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 13							139.0	143.0	142.0					3																	185183578		2203	4300	6503	SO:0001583	missense	9175	0	0					g.chr3:185183578C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1432C>T	chr3.hg19:g.185183578C>T	ENSP00000265026:p.Arg478Trp	0					MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W	p.R478W	NM_004721.4	NP_004712.1	1	2	3	1.998468			OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	9	1766	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)			Missense_Mutation	SNP	ENST00000265026.3	1	1	hg19	c.1432C>T	CCDS3270.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873817	0.72180	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80566	-1.39;-1.35;-1.25;-1.25;-1.35;-1.05	4.97	2.95	0.34219	4.97	2.95	0.34219	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.83243	0.5212	L	0.34521	1.04	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	D	0.84993	0.0895	10	0.72032	D	0.01	.	13.4974	0.61434	0.3171:0.6829:0.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	W	271;478;334;334;478;223	ENSP00000411483:R271W;ENSP00000399910:R478W;ENSP00000409325:R334W;ENSP00000439257:R334W;ENSP00000265026:R478W;ENSP00000415712:R223W	ENSP00000265026:R478W	R	+	1	2	2	MAP3K13	186666272	186666272	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.491000	0.22419	2.309000	0.77851	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	1	0	1		16	2	2	1		1	1	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_004721			143	140		564	556	1		1	1		1	0	156	0		1	3.508386e-01	0	2	0	4	0	143	564
MAP3K13	9175	broad.mit.edu	37	3	185200169	185200169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_ENST00000424227.1_Silent_p.D942D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000446828.1_Silent_p.D735D|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.D942D(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423																																						ENST00000265026.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D942D(1)	large_intestine(1)	54						c.(2824-2826)gaC>gaT		mitogen-activated protein kinase kinase kinase 13							208.0	187.0	194.0					3																	185200169		2203	4300	6503	SO:0001819	synonymous_variant	9175	0	0					g.chr3:185200169C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2826C>T	chr3.hg19:g.185200169C>T		0					MAP3K13_ENST00000424227.1_Silent_p.D942D|MAP3K13_ENST00000446828.1_Silent_p.D735D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D	p.D942D	NM_004721.4	NP_004712.1	1	2	3	1.998468			OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	14	3160	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)			Silent	SNP	ENST00000265026.3	1	1	hg19	c.2826C>T	CCDS3270.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	1	0	1		2	2	2	0		0	0	168		168	166	1	2.060000	-20.000000	1	0.170000	NM_004721			119	113		468	449	0		1	0		0	0	168	0		1	1.077616e-01	0	1	0	2	0	119	468
TMEM41A	90407	broad.mit.edu	37	3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000421852.1	-	5	880	c.785A>C	c.(784-786)aAa>aCa	p.K262T	TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000296254.3_3'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	262						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATGTGTCTTTTCTACTGTG	0.383																																						ENST00000421852.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(784-786)aAa>aCa		transmembrane protein 41A							150.0	140.0	143.0					3																	185209335		2203	4300	6503	SO:0001583	missense	90407	0	0					g.chr3:185209335T>G	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.785A>C	chr3.hg19:g.185209335T>G	ENSP00000406885:p.Lys262Thr	0					TMEM41A_ENST00000296254.3_3'UTR|TMEM41A_ENST00000475480.1_Intron	p.K262T	NM_080652.3	NP_542383.1	1	2	3	1.998468	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	5	880	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	1	1	hg19	c.785A>C	CCDS3271.1	1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964913	0.53507	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.69	4.54	0.55810	5.69	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.70275	2.135	0.80722	D	1	P	0.47106	0.89	B	0.40901	0.343	T	0.58994	-0.7537	9	0.72032	D	0.01	-15.9716	9.7811	0.40649	0.0:0.0774:0.0:0.9226	.	262	Q96HV5	TM41A_HUMAN	T	262	.	ENSP00000406885:K262T	K	-	2	0	0	TMEM41A	186692029	186692029	0.997000	0.39634	0.999000	0.59377	0.499000	0.33736	2.946000	0.49050	2.178000	0.69098	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_080652			55	55		226	219	1		1	1		0	0	50	0		1	9.999995e-01	0	18	0	74	0	55	226
LIPH	200879	broad.mit.edu	37	3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000296252.4	-	8	1145	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	335					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			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)			CCATGTTATAATATCCACAAA	0.393																																						ENST00000296252.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1003-1005)aTt>aGt		lipase, member H							230.0	202.0	211.0					3																	185232288		2203	4299	6502	SO:0001583	missense	200879	0	0					g.chr3:185232288A>C	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.1004T>G	chr3.hg19:g.185232288A>C	ENSP00000296252:p.Ile335Ser	0					LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	p.I335S	NM_139248.2	NP_640341.1	1	2	3	1.998468	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)	8	1145	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	1	1	hg19	c.1004T>G	CCDS3272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927515|1.927515	0.34002|0.34002	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.90504|.	-2.68;-2.58|.	4.87|4.87	4.87|4.87	0.63330|0.63330	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.170455|.	0.53938|.	D|.	0.000046|.	T|T	0.64011|0.64011	0.2560|0.2560	M|M	0.72894|0.72894	2.215|2.215	0.32274|0.32274	N|N	0.568493|0.568493	D;D|.	0.63880|.	0.993;0.957|.	P;P|.	0.55455|.	0.776;0.71|.	T|T	0.71820|0.71820	-0.4477|-0.4477	10|5	0.87932|.	D|.	0|.	-13.7778|-13.7778	13.4427|13.4427	0.61123|0.61123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;335|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	S|V	335;301|13	ENSP00000296252:I335S;ENSP00000396384:I301S|.	ENSP00000296252:I335S|.	I|L	-|-	2|1	0|2	0|2	LIPH|LIPH	186714982|186714982	186714982|186714982	0.994000|0.994000	0.37717|0.37717	0.969000|0.969000	0.41365|0.41365	0.254000|0.254000	0.26022|0.26022	6.868000|6.868000	0.75516|0.75516	2.044000|2.044000	0.60594|0.60594	0.379000|0.379000	0.24179|0.24179	ATT|TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				89	88		352	345	1		1	1		0	0	66	0		1	1	0	52	0	50	0	89	352
SENP2	59343	broad.mit.edu	37	3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A	rs549095345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000465201.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame|SENP2_ENST00000545472.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	3					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)			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)			GGTATGTACAGATGGCTGGTT	0.657																																						ENST00000296257.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(7-9)aGa>aAa		SUMO1/sentrin/SMT3 specific peptidase 2							102.0	104.0	103.0					3																	185304209		2203	4300	6503	SO:0001583	missense	59343	0	0					g.chr3:185304209G>A	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.8G>A	chr3.hg19:g.185304209G>A	ENSP00000296257:p.Arg3Lys	0					SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame	p.R3K	NM_021627.2	NP_067640.2	1	2	3	1.998468	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)	1	248	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	1	1	hg19	c.8G>A	CCDS33902.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537215	0.45176	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.21543	2.0	5.02	1.79	0.24919	5.02	1.79	0.24919	.	0.147188	0.32068	N	0.006630	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.10377	T	0.69	-8.9996	5.2464	0.15498	0.487:0.0:0.513:0.0	.	3	Q9HC62	SENP2_HUMAN	K	3	ENSP00000296257:R3K	ENSP00000296257:R3K	R	+	2	0	0	SENP2	186786903	186786903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.523000	0.22925	0.550000	0.28991	0.655000	0.94253	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	1	0	1		2	2	2	0		0	0	189		189	189	1	2.060000	-20.000000	1	0.170000	NM_021627			192	188		784	770	1		1	1		0	0	189	0		1	9.996552e-01	0	18	0	31	0	192	784
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000457616.2_Silent_p.P201P|IGF2BP2_ENST00000421047.2_Silent_p.P138P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	195	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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622																																						ENST00000382199.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(583-585)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 2							90.0	93.0	92.0					3																	185407235		2203	4300	6503	SO:0001819	synonymous_variant	10644	3	121412	38				g.chr3:185407235C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.585G>A	chr3.hg19:g.185407235C>T		0					IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000457616.2_Silent_p.P201P|IGF2BP2_ENST00000494906.1_5'Flank	p.P195P	NM_006548.4	NP_006539.3	1	2	3	1.998468	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	6	680	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	1	1	hg19	c.585G>A	CCDS3273.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	1	0	1		19	3	2	1		1	1	131		131	129	1	2.060000	-20.000000	1	0.170000	NM_006548			118	114		623	617	1		1	1		1	0	131	0		1	9.957505e-01	0	21	0	36	0	118	623
ETV5	2119	broad.mit.edu	37	3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	401					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACCTCTTCCGGTTCTATCAG	0.473			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		3	3q28	3q28	2119	T	ets variant gene 5				E	E	TMPRSS2, SCL45A3		Prostate		0				28						c.(1201-1203)cCg>cTg		ets variant 5							88.0	85.0	86.0					3																	185774871		2203	4300	6503	SO:0001583	missense	2119	0	0					g.chr3:185774871G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1202C>T	chr3.hg19:g.185774871G>A	ENSP00000306894:p.Pro401Leu	0					ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	p.P401L	NM_004454.2	NP_004445.1	1	2	3	1.998468	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)	11	1448	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	1	1	hg19	c.1202C>T	CCDS33906.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796945	0.90453	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.58652	0.32;0.32;0.32	5.69	5.69	0.88448	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86282	0.1668	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	401;443	P41161;B7Z7D7	ETV5_HUMAN;.	L	401;401;443	ENSP00000306894:P401L;ENSP00000413755:P401L;ENSP00000441737:P443L	ENSP00000306894:P401L	P	-	2	0	0	ETV5	187257565	187257565	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-2.695095	1	0.170000	NM_004454			39	37		194	189	1		1	1		0	0	52	0		1	9.998768e-01	0	23	0	48	0	39	194
DGKG	1608	broad.mit.edu	37	3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron	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	367					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)			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)	CGGCACCACACGCAGTGCCGC	0.602																																						ENST00000265022.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42						c.(1099-1101)Gtg>Atg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						70.0	56.0	60.0					3																	185986607		2203	4300	6503	SO:0001583	missense	1608	1	121412	33				g.chr3:185986607C>T	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.1099G>A	chr3.hg19:g.185986607C>T	ENSP00000265022:p.Val367Met	0					DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron	p.V367M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	1	2	3	1.998468	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	12	1638	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	1	1	hg19	c.1099G>A	CCDS3274.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218901	0.79464	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	4.28	0.50868	5.16	4.28	0.50868	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	D	0.90842	0.4724	10	0.56958	D	0.05	.	15.1375	0.72579	0.0:0.8579:0.1421:0.0	.	367;367	P49619-2;P49619	.;DGKG_HUMAN	M	367;367;118	ENSP00000265022:V367M;ENSP00000339777:V367M;ENSP00000395526:V118M	ENSP00000265022:V367M	V	-	1	0	0	DGKG	187469301	187469301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	1.319000	0.45190	0.563000	0.77884	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				36	35		169	169	1		1	0		0	0	35	0		1	3.265515e-02	0	0	0	2	0	36	169
DGKG	1608	broad.mit.edu	37	3	185993442	185993442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185993442C>T	ENST00000265022.3	-	10	1343	c.804G>A	c.(802-804)ggG>ggA	p.G268G	DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000382164.4_Silent_p.G268G	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	268					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)			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)	GCCGCCCATCCCCCTTGGAGC	0.577																																						ENST00000265022.3	1.000000	0.140000	5.200000e-01	2.200000e-01	0.340000	0.390263	0.340000	0.300000																										0				42						c.(802-804)ggG>ggA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						50.0	48.0	49.0					3																	185993442		2203	4300	6503	SO:0001819	synonymous_variant	1608	0	0					g.chr3:185993442C>T	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.804G>A	chr3.hg19:g.185993442C>T		0					DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000382164.4_Silent_p.G268G	p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	1	2	3	1.998468	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	10	1343	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	0	1	hg19	c.804G>A	CCDS3274.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3	0	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-7.668308	1	0.170000				6	6		221	220	0		1	0		0	0	42	0		9.650919e-01	0	0	0	0	1	0	6	221
CRYGS	1427	broad.mit.edu	37	3	186256636	186256636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186256636G>A	ENST00000392499.2	-	4	725	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	129	Beta/gamma crystallin 'Greek key' 3. {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)			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)		CACCTTACAGGAGTGGATCTC	0.488																																						ENST00000392499.2	1.000000	0.120000	4.800000e-01	2.000000e-01	0.310000	0.365145	0.310000	0.280000																										0				11						c.(385-387)tCc>tTc		crystallin, gamma S							92.0	85.0	87.0					3																	186256636		2203	4300	6503	SO:0001583	missense	1427	1	121412	30				g.chr3:186256636G>A		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.386C>T	chr3.hg19:g.186256636G>A	ENSP00000376287:p.Ser129Phe	0					CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	p.S129F	NM_017541.2	NP_060011.1	1	2	3	1.998468	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	4	725	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	0	1	hg19	c.386C>T	CCDS3275.1	0	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944380	0.92593	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	D;D	0.93426	-3.22;-3.22	5.95	5.95	0.96441	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.082064	0.49916	U	0.000131	D	0.98077	0.9366	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98985	1.0806	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	129	P22914	CRBS_HUMAN	F	129	ENSP00000376287:S129F;ENSP00000312099:S129F	ENSP00000312099:S129F	S	-	2	0	0	CRYGS	187739330	187739330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-7.170700	1	0.170000	NM_017541			6	6		240	234	0		1	0		0	0	58	0		9.627653e-01	2.199625e-02	0	0	0	8	0	6	240
TBCCD1	55171	broad.mit.edu	37	3	186272090	186272090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000424280.1	-	6	1976	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000479590.1_5'UTR	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	499					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393																																						ENST00000424280.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1495-1497)caG>caA		TBCC domain containing 1							82.0	90.0	87.0					3																	186272090		2203	4300	6503	SO:0001819	synonymous_variant	55171	0	0					g.chr3:186272090C>T	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.1497G>A	chr3.hg19:g.186272090C>T		0					TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q	p.Q499Q	NM_001134415.1	NP_001127887.1	1	2	3	1.998468	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	6	1976	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		B3KW69|D3DNU6|G5E9J4	Silent	SNP	ENST00000424280.1	1	1	hg19	c.1497G>A	CCDS3276.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-3.252770	1	0.170000	NM_018138			129	123		597	582	1		1	1		0	0	121	0		1	9.999845e-01	0	20	0	54	0	129	597
DNAJB11	51726	broad.mit.edu	37	3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	176					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517																																						ENST00000439351.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(526-528)cGg>cAg		DnaJ (Hsp40) homolog, subfamily B, member 11							93.0	91.0	91.0					3																	186299230		2203	4300	6503	SO:0001583	missense	51726	0	0					g.chr3:186299230G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.527G>A	chr3.hg19:g.186299230G>A	ENSP00000414398:p.Arg176Gln	0					DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q	p.R176Q			1	2	3	1.998468	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	6	1456	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	1	1	hg19	c.527G>A	CCDS3277.1	1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240637	0.58995	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67865	-0.29;-0.29	5.85	4.98	0.66077	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.33624	1.015	0.80722	D	1	B	0.27765	0.188	B	0.20184	0.028	T	0.49380	-0.8946	10	0.27082	T	0.32	-15.0608	12.9238	0.58247	0.0784:0.0:0.9216:0.0	.	176	Q9UBS4	DJB11_HUMAN	Q	176	ENSP00000414398:R176Q;ENSP00000265028:R176Q	ENSP00000265028:R176Q	R	+	2	0	0	DNAJB11	187781924	187781924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.467000	0.48044	-0.150000	0.13652	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-3.017947	1	0.170000				75	73		449	440	1		1	1		0	0	111	0		1	1	0	135	0	424	0	75	449
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448																																						ENST00000439351.1	1.000000	0.450000	9.800000e-01	5.900000e-01	0.750000	0.768292	0.750000	1.000000																										0				15						c.(889-891)gCg>gTg		DnaJ (Hsp40) homolog, subfamily B, member 11		C	VAL/ALA	0,4406		0,0,2203	93.0	88.0	90.0		890	6.1	1.0	3	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJB11	NM_016306.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	297/359	186302256	1,13005	2203	4300	6503	SO:0001583	missense	51726	7	121412	37				g.chr3:186302256C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.890C>T	chr3.hg19:g.186302256C>T	ENSP00000414398:p.Ala297Val	0					DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V	p.A297V			1	2	3	1.998468	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	10	1819	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	1	1	hg19	c.890C>T	CCDS3277.1	0	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868128	0.91587	0.0	1.16E-4	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	6.08	6.08	0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.046875	0.85682	D	0.000000	T	0.55353	0.1915	M	0.85630	2.765	0.80722	D	1	P	0.44946	0.846	B	0.43658	0.426	T	0.60281	-0.7294	10	0.48119	T	0.1	-13.9583	18.1573	0.89696	0.0:1.0:0.0:0.0	.	297	Q9UBS4	DJB11_HUMAN	V	297	ENSP00000414398:A297V;ENSP00000265028:A297V	ENSP00000265028:A297V	A	+	2	0	0	DNAJB11	187784950	187784950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-19.727630	1	0.170000				17	16		255	244	0		1	1		0	0	66	0		9.999552e-01	1	0	54	0	779	0	17	255
AHSG	197	broad.mit.edu	37	3	186334294	186334294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000273784.5	+	3	463	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000411641.2_Silent_p.Y129Y	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	129	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433																																						ENST00000273784.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(385-387)taC>taT		alpha-2-HS-glycoprotein							121.0	103.0	109.0					3																	186334294		2203	4300	6503	SO:0001819	synonymous_variant	197	10	121406	35				g.chr3:186334294C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.387C>T	chr3.hg19:g.186334294C>T		0					AHSG_ENST00000411641.2_Silent_p.Y129Y	p.Y129Y	NM_001622.2	NP_001613.2	1	2	3	1.998468	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	3	463	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	1	1	hg19	c.387C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_001622			32	32		85	84	1		1			0	0	20	0		1	0	0	0	0	0	0	32	85
FETUB	26998	broad.mit.edu	37	3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000265029.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000539949.1_Intron|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	59	Cystatin fetuin-B-type 1. {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)			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)		CAGAAAGGATGGCTATGTGCT	0.577																																						ENST00000265029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(175-177)Ggc>Cgc		fetuin B							157.0	167.0	163.0					3																	186358424		2203	4300	6503	SO:0001583	missense	26998	0	0					g.chr3:186358424G>C	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.175G>C	chr3.hg19:g.186358424G>C	ENSP00000265029:p.Gly59Arg	0					FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R	p.G59R	NM_014375.2	NP_055190.2	1	2	3	1.998468	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	1	276	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	1	1	hg19	c.175G>C	CCDS3279.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367130	0.82463	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.51817	1.6;1.6;0.69;0.69	5.26	5.26	0.73747	5.26	5.26	0.73747	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.64402	D	0.000008	T	0.74749	0.3757	M	0.91717	3.235	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	0.80025	-0.1555	10	0.87932	D	0	-32.4386	15.109	0.72340	0.0:0.0:1.0:0.0	.	59;59;59	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	59	ENSP00000404288:G59R;ENSP00000265029:G59R;ENSP00000371569:G59R;ENSP00000371571:G59R	ENSP00000265029:G59R	G	+	1	0	0	FETUB	187841118	187841118	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	4.938000	0.63519	2.840000	0.97914	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	1	0	1		2	2	2	0		0	0	282		282	279	1	2.060000	-20.000000	1	0.170000	NM_014375			229	223		1018	1005	1		1			0	0	282	0		1	0	0	0	0	0	0	229	1018
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T	rs370685538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				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)			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)		CTTAAGAAGGCGAGGCCCAGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.001					ENST00000232003.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1321-1323)Cga>Tga		histidine-rich glycoprotein		C	stop/ARG	0,4406		0,0,2203	69.0	62.0	64.0		1321	2.4	0.0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HRG	NM_000412.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		441/526	186395415	1,13005	2203	4300	6503	SO:0001587	stop_gained	3273	4	121412	39				g.chr3:186395415C>T		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.1321C>T	chr3.hg19:g.186395415C>T	ENSP00000232003:p.Arg441*	0						p.R441*	NM_000412.2	NP_000403.1	1	2	3	1.998468	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	7	1401	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	0	1	hg19	c.1321C>T	CCDS3280.1	1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676245	0.47886	0.0	1.16E-4	ENSG00000113905	ENST00000232003	.	.	.	4.88	2.37	0.29283	4.88	2.37	0.29283	.	0.270380	0.26590	N	0.023525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8229	8.8476	0.35179	0.6:0.4:0.0:0.0	.	.	.	.	X	441	.	ENSP00000232003:R441X	R	+	1	2	2	HRG	187878109	187878109	0.002000	0.14202	0.035000	0.18076	0.002000	0.02628	0.913000	0.28611	1.016000	0.39470	-0.410000	0.06199	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_000412			77	76		285	281	1		1			0	0	66	0		1	0	0	0	0	0	0	77	285
EIF4A2	1974	broad.mit.edu	37	3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	342	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|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)|regulation of translational initiation (GO:0006446)|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)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368			T	BCL6	NHL																																	ENST00000323963.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q27.3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""				L	L	BCL6		NHL		0				28						c.(1024-1026)Gtg>Atg		eukaryotic translation initiation factor 4A2							94.0	95.0	95.0					3																	186505616		2203	4299	6502	SO:0001583	missense	1974	0	0					g.chr3:186505616G>A	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1024G>A	chr3.hg19:g.186505616G>A	ENSP00000326381:p.Val342Met	0					SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA	p.V342M			1	2	3	1.998468	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	10	1088	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	1	1	hg19	c.1024G>A	CCDS3282.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759885	0.89932	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.09350	2.99;2.99;2.99	5.43	5.43	0.79202	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	H	0.99249	4.485	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.965;0.952;0.971	T	0.74140	-0.3761	10	0.87932	D	0	.	17.0851	0.86609	0.0:0.0:1.0:0.0	.	247;343;342	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	M	342;343;247	ENSP00000326381:V342M;ENSP00000398370:V343M;ENSP00000348925:V247M	ENSP00000326381:V342M	V	+	1	0	0	EIF4A2	187988310	187988310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.344000	0.97050	2.709000	0.92574	0.563000	0.77884	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_001967			79	77		304	298	1		1	1		0	0	78	0		1	1	0	135	0	878	0	79	304
ST6GAL1	6480	broad.mit.edu	37	3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	348					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512																																						ENST00000169298.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1042-1044)Cgc>Tgc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							148.0	121.0	130.0					3																	186793412		2203	4300	6503	SO:0001583	missense	6480	2	121412	33				g.chr3:186793412C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1042C>T	chr3.hg19:g.186793412C>T	ENSP00000169298:p.Arg348Cys	0					ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C	p.R348C	NM_173216.2	NP_775323.1	1	2	3	1.998468	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	8	1716	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	1	1	hg19	c.1042C>T	CCDS3285.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415624	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.32988	1.43;1.43;1.43	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73858	-0.3850	10	0.87932	D	0	-7.2879	17.8009	0.88586	0.0:1.0:0.0:0.0	.	348	P15907	SIAT1_HUMAN	C	348;117;348	ENSP00000169298:R348C;ENSP00000412221:R117C;ENSP00000389337:R348C	ENSP00000169298:R348C	R	+	1	0	0	ST6GAL1	188276106	188276106	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.321000	0.33678	2.884000	0.98904	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_173216			58	58		249	245	1		1	1		0	0	76	0		1	1	0	4	0	217	0	58	249
RTP1	132112	broad.mit.edu	37	3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	248					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)			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)		TTGGGCCACGGTCCTGCTGCT	0.597																																						ENST00000312295.4	1.000000	0.170000	4.200000e-01	2.300000e-01	0.310000	0.357387	0.310000	0.300000																										0				22						c.(742-744)Gtc>Atc		receptor (chemosensory) transporter protein 1							92.0	86.0	88.0					3																	186917808		2203	4300	6503	SO:0001583	missense	132112	0	0					g.chr3:186917808G>A	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.742G>A	chr3.hg19:g.186917808G>A	ENSP00000311712:p.Val248Ile	0					RP11-208N14.4_ENST00000356133.3_RNA	p.V248I	NM_153708.2	NP_714919.2	1	2	3	1.998468	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	2	772	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)			Missense_Mutation	SNP	ENST00000312295.4	1	1	hg19	c.742G>A	CCDS3287.2	0	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946158	0.53079	.	.	ENSG00000175077	ENST00000312295	T	0.22539	1.95	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.094831	0.45606	D	0.000347	T	0.15998	0.0385	N	0.24115	0.695	0.28188	N	0.927894	B	0.09022	0.002	B	0.09377	0.004	T	0.08027	-1.0742	10	0.30078	T	0.28	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	248	P59025	RTP1_HUMAN	I	248	ENSP00000311712:V248I	ENSP00000311712:V248I	V	+	1	0	0	RTP1	188400502	188400502	0.851000	0.29673	0.992000	0.48379	0.995000	0.86356	2.129000	0.42055	2.723000	0.93209	0.655000	0.94253	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.240031	1	0.170000	NM_153708			15	14		571	560	0		1			0	0	79	0		9.998515e-01	0	0	0	0	0	0	15	571
MASP1	5648	broad.mit.edu	37	3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000337774.5	-	8	1465	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.I246S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	359	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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)		ACAGGTGGGAATCTTGTTACT	0.488																																						ENST00000337774.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1075-1077)aTt>aGt		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							200.0	203.0	202.0					3																	186968053		2203	4300	6503	SO:0001583	missense	5648	0	0					g.chr3:186968053A>C	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.1076T>G	chr3.hg19:g.186968053A>C	ENSP00000336792:p.Ile359Ser	0					MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S	p.I359S	NM_001879.5	NP_001870.3	1	2	3	1.998468	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	8	1465	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	1	1	hg19	c.1076T>G	CCDS33907.1	1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541866	0.45280	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.282017	0.39475	N	0.001342	T	0.57475	0.2056	L	0.47716	1.5	0.37569	D	0.919358	B;B;B;B;B	0.33345	0.062;0.001;0.387;0.409;0.023	B;B;B;B;B	0.35859	0.062;0.026;0.212;0.099;0.073	T	0.60281	-0.7294	10	0.27785	T	0.31	.	15.1457	0.72650	1.0:0.0:0.0:0.0	.	333;359;246;359;359	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	S	359;359;246;246;359;333	ENSP00000336792:I359S;ENSP00000296280:I359S;ENSP00000376264:I246S;ENSP00000169293:I359S;ENSP00000376262:I333S	ENSP00000169293:I359S	I	-	2	0	0	MASP1	188450747	188450747	0.979000	0.34478	0.941000	0.38009	0.983000	0.72400	5.135000	0.64777	2.174000	0.68829	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	1	0	1		2	2	2	0		0	0	178		178	178	1	2.060000	-20.000000	1	0.170000	NM_001879			143	139		765	750	1		1			0	0	178	0		1	0	0	0	0	0	0	143	765
MASP1	5648	broad.mit.edu	37	3	187009414	187009414	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						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)			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)		CCTGGCACGTACCTCATTTTC	0.607																																						ENST00000337774.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.e1+1		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							141.0	111.0	121.0					3																	187009414		2203	4300	6503	SO:0001630	splice_region_variant	5648	0	0					g.chr3:187009414A>G	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.5+1T>C	chr3.hg19:g.187009414A>G		0					MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Splice_Site		NM_001879.5	NP_001870.3	1	2	3	1.998468	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	1	395	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	SNP	ENST00000337774.5	1	1	hg19		CCDS33907.1	1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353985	0.41700	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475	.	.	.	5.86	4.69	0.59074	5.86	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2095	0.48790	0.8464:0.1536:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MASP1	188492108	188492108	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.105000	0.64591	1.020000	0.39573	0.460000	0.39030	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	0	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001879	Intron		73	73		385	376	1		1			0	0	98	0		1	0	0	0	0	0	0	73	385
RTP4	64108	broad.mit.edu	37	3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	65					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)				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)		TTGGGCTTCCGCCCAAGTGCA	0.552													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0					ENST00000259030.2	1.000000	0.330000	9.600000e-01	4.800000e-01	0.680000	0.699693	0.680000	1.000000																										0				11						c.(193-195)Gcc>Acc		receptor (chemosensory) transporter protein 4		G	THR/ALA	27,4379	33.5+/-64.1	0,27,2176	53.0	47.0	49.0		193	3.0	0.2	3	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RTP4	NM_022147.2	58	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	probably-damaging	65/247	187088613	29,12977	2203	4300	6503	SO:0001583	missense	64108	59	121402	49				g.chr3:187088613G>A	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.193G>A	chr3.hg19:g.187088613G>A	ENSP00000259030:p.Ala65Thr	0						p.A65T	NM_022147.2	NP_071430.2	1	2	3	1.998468	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	2	303	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	1	1	hg19	c.193G>A	CCDS33910.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.44	2.237428	0.39498	0.006128	2.33E-4	ENSG00000136514	ENST00000259030	T	0.24350	1.86	3.89	3.0	0.34707	3.89	3.0	0.34707	.	0.167493	0.52532	D	0.000073	T	0.40473	0.1118	M	0.82823	2.61	0.21290	N	0.999739	D	0.89917	1.0	D	0.78314	0.991	T	0.19386	-1.0307	10	0.45353	T	0.12	-19.4826	8.8881	0.35416	0.0:0.0:0.7776:0.2224	.	65	Q96DX8	RTP4_HUMAN	T	65	ENSP00000259030:A65T	ENSP00000259030:A65T	A	+	1	0	0	RTP4	188571307	188571307	0.942000	0.31987	0.177000	0.23020	0.036000	0.12997	5.311000	0.65786	1.213000	0.43380	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.306829	1	0.170000	NM_022147			9	9		155	153	0		1	1		0	0	31	0		9.943115e-01	9.865795e-01	0	12	0	121	0	9	155
SST	6750	broad.mit.edu	37	3	187386922	187386922	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493																																						ENST00000287641.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(280-282)ccG>ccA		somatostatin	Cysteamine(DB00847)						215.0	210.0	212.0					3																	187386922		2203	4300	6503	SO:0001819	synonymous_variant	6750	1	121412	33				g.chr3:187386922C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.282G>A	chr3.hg19:g.187386922C>T		0						p.P94P	NM_001048.3	NP_001039.1	1	2	3	1.998468	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	2	389	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		B2R5G3|P01166	Silent	SNP	ENST00000287641.3	1	1	hg19	c.282G>A	CCDS3288.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	0		2	2	2	0		0	0	296		296	296	1	2.060000	-20.000000	1	0.170000	NM_001048			247	242		1044	1016	1		1	0		0	0	296	0		1	1	0	0	0	322	0	247	1044
SST	6750	broad.mit.edu	37	3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	85					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517																																						ENST00000287641.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(253-255)gAg>gCg		somatostatin	Cysteamine(DB00847)						257.0	242.0	247.0					3																	187386950		2203	4300	6503	SO:0001583	missense	6750	0	0					g.chr3:187386950T>G		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.254A>C	chr3.hg19:g.187386950T>G	ENSP00000287641:p.Glu85Ala	0						p.E85A	NM_001048.3	NP_001039.1	1	2	3	1.998468	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	2	361	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	1	1	hg19	c.254A>C	CCDS3288.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344256	0.82022	.	.	ENSG00000157005	ENST00000287641	T	0.38887	1.11	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.090474	0.85682	D	0.000000	T	0.66237	0.2769	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.71234	-0.4653	10	0.72032	D	0.01	1.252	14.8038	0.69935	0.0:0.0:0.0:1.0	.	85	P61278	SMS_HUMAN	A	85	ENSP00000287641:E85A	ENSP00000287641:E85A	E	-	2	0	0	SST	188869644	188869644	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.698000	0.84413	2.092000	0.63282	0.254000	0.18369	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	0		2	2	2	0		0	0	307		307	307	1	2.060000	-20.000000	1	0.170000	NM_001048			307	301		1186	1155	1		1	0		0	0	307	0		1	1	0	0	0	198	0	307	1186
SST	6750	broad.mit.edu	37	3	187387999	187387999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	27					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682																																						ENST00000287641.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999496	0.990000	1.000000																										0				9						c.(79-81)tcG>tcA		somatostatin	Cysteamine(DB00847)						22.0	21.0	21.0					3																	187387999		2199	4298	6497	SO:0001819	synonymous_variant	6750	1	121102	20				g.chr3:187387999C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.81G>A	chr3.hg19:g.187387999C>T		0						p.S27S	NM_001048.3	NP_001039.1	1	2	3	1.998468	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	1	188	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		B2R5G3|P01166	Silent	SNP	ENST00000287641.3	1	1	hg19	c.81G>A	CCDS3288.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-11.167380	1	0.170000	NM_001048			12	12		45	45	1		1	0		0	0	12	0		9.994662e-01	1	0	0	0	213	0	12	45
LPP	4026	broad.mit.edu	37	3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	243	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		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)		CAGGACAAATTTATGGCTCAG	0.542			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q28	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma				"""L, M"""	L, M	HMGA2, MLL, C12orf9		lipoma, leukemia	HMGA2/LPP(161)	0				10						c.(727-729)atT>atG		LIM domain containing preferred translocation partner in lipoma							51.0	53.0	52.0					3																	188327248		2203	4300	6503	SO:0001583	missense	4026	0	0					g.chr3:188327248T>G	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.729T>G	chr3.hg19:g.188327248T>G	ENSP00000318089:p.Ile243Met	0					LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	p.I243M	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	1	2	3	1.998468	Q93052	LPP_HUMAN		6	975	+	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)	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	1	1	hg19	c.729T>G	CCDS3291.1	1	.	.	.	.	.	.	.	.	.	.	T	6.607	0.480433	0.12581	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.96;0.54;0.54;1.55	5.53	-7.67	0.01272	5.53	-7.67	0.01272	.	1.058050	0.07175	N	0.853006	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16571	-1.0398	10	0.32370	T	0.25	.	6.1723	0.20424	0.0646:0.2069:0.1644:0.5642	.	243;243	C9JUT4;Q93052	.;LPP_HUMAN	M	243;243;243;80	ENSP00000393602:I243M;ENSP00000318089:I243M;ENSP00000438891:I243M;ENSP00000393008:I80M	ENSP00000318089:I243M	I	+	3	3	3	LPP	189809942	189809942	0.000000	0.05858	0.003000	0.11579	0.708000	0.40852	-1.016000	0.03633	-1.366000	0.02155	-0.747000	0.03512	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_005578			73	72		272	271	1		1	1		0	0	58	0		1	9.997778e-01	0	13	0	36	0	73	272
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	C	T	rs138205223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	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)		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)		TCCGAGCCACCGGGAAGGCCT	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20418	0.0		0.0	False		,,,				2504	0.0					ENST00000312675.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000				Dom	yes			Dom	yes		3	3q28	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma				"""L, M"""	L, M	HMGA2, MLL, C12orf9		lipoma, leukemia	HMGA2/LPP(161)	0				10						c.(1471-1473)acC>acT		LIM domain containing preferred translocation partner in lipoma		C	,,	2,4404	4.2+/-10.8	0,2,2201	172.0	146.0	155.0		1473,1032,1473	-6.2	0.9	3	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	491/613,344/466,491/613	188584050	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4026	7	121408	40				g.chr3:188584050C>T	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.1473C>T	chr3.hg19:g.188584050C>T		0					LPP_ENST00000543006.1_Silent_p.T491T	p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	1	2	3	1.998468	Q93052	LPP_HUMAN		9	1719	+	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)	A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	1	1	hg19	c.1473C>T	CCDS3291.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-2.642190	1	0.170000	NM_005578			53	49		349	342	1		1	1		0	0	77	0		1	9.994879e-01	0	10	0	66	0	53	349
LPP	4026	broad.mit.edu	37	3	188590548	188590548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	LIM zinc-binding 3. {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)		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)		GCTACCGATGCGAGGTCTGGT	0.522			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3q28	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma				"""L, M"""	L, M	HMGA2, MLL, C12orf9		lipoma, leukemia	HMGA2/LPP(161)	0				10						c.(1705-1707)tgC>tgT		LIM domain containing preferred translocation partner in lipoma							92.0	70.0	77.0					3																	188590548		2203	4300	6503	SO:0001819	synonymous_variant	4026	4	121412	31				g.chr3:188590548C>T	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.1707C>T	chr3.hg19:g.188590548C>T		0					LPP_ENST00000543006.1_Silent_p.C569C	p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	1	2	3	1.998468	Q93052	LPP_HUMAN		10	1953	+	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)	A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	1	1	hg19	c.1707C>T	CCDS3291.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_005578			53	52		172	170	0		1	1		0	0	25	0		1	9.999993e-01	0	22	0	51	0	53	172
TPRG1	285386	broad.mit.edu	37	3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	193						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473																																						ENST00000345063.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(577-579)Act>Gct		tumor protein p63 regulated 1							98.0	94.0	96.0					3																	189028272		2203	4300	6503	SO:0001583	missense	285386	1	121412	33				g.chr3:189028272A>G	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.577A>G	chr3.hg19:g.189028272A>G	ENSP00000341031:p.Thr193Ala	0					TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	p.T193A	NM_198485.3	NP_940887.1	1	2	3	1.998468	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	5	744	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)		Missense_Mutation	SNP	ENST00000345063.3	1	1	hg19	c.577A>G	CCDS3292.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579318|4.579318	0.86645|0.86645	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000345063|ENST00000425670	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75715|0.75715	0.3887|0.3887	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.76658|0.76658	-0.2878|-0.2878	9|5	0.72032|.	D|.	0.01|.	-19.4379|-19.4379	15.0311|15.0311	0.71708|0.71708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193|.	Q6ZUI0|.	TPRG1_HUMAN|.	A|C	193|120	.|.	ENSP00000341031:T193A|.	T|Y	+|+	1|2	0|0	0|0	TPRG1|TPRG1	190510966|190510966	190510966|190510966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	6.849000|6.849000	0.75414|0.75414	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	ACT|TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	0	1		19	2	2	1		1	1	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_198485			75	73		391	387	1		1	1		1	0	82	0		1	8.096799e-01	0	6	0	12	0	75	391
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	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)			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)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)																												ENST00000264731.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(58-60)caG>caT		tumor protein p63							168.0	154.0	159.0					3																	189349364		2203	4300	6503	SO:0001583	missense	8626	0	0					g.chr3:189349364G>T	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.60G>T	chr3.hg19:g.189349364G>T	ENSP00000264731:p.Gln20His	0	HNSCC(45;0.13)				TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H	p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	1	2	3	1.998468	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	1	149	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		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	Missense_Mutation	SNP	ENST00000264731.3	1	1	hg19	c.60G>T	CCDS3293.1	1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531329	0.27387	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99680	-6.0;-6.27;-6.23;-6.24;-6.0;-6.38	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.411940	0.24076	N	0.041763	D	0.97763	0.9266	N	0.08118	0	0.80722	D	1	P;P;B;P	0.41848	0.763;0.523;0.34;0.523	B;B;B;B	0.41088	0.24;0.24;0.121;0.347	D	0.98181	1.0457	9	.	.	.	-6.671	12.2156	0.54404	0.0772:0.0:0.9228:0.0	.	20;20;20;20	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	H	20	ENSP00000264731:Q20H;ENSP00000407144:Q20H;ENSP00000317510:Q20H;ENSP00000376253:Q20H;ENSP00000394337:Q20H;ENSP00000371495:Q20H	.	Q	+	3	2	2	TP63	190832058	190832058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.350000	0.52224	2.695000	0.91970	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	1	0	0		2	2	2	0		0	0	152		152	152	1	2.060000	-20.000000	1	0.170000	NM_003722			112	107		615	602	1		1			0	0	152	0		1	0	0	0	0	0	0	112	615
LEPREL1	55214	broad.mit.edu	37	3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A	rs377600857		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	405					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)			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)	TCATCCTGTCGTCCTCCATAT	0.313																																						ENST00000319332.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1213-1215)Cga>Tga		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	142.0	145.0		670,1213	4.0	1.0	3		145	0,8600		0,0,4300	no	stop-gained,stop-gained	LEPREL1	NM_001134418.1,NM_018192.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	224/528,405/709	189702355	1,13005	2203	4300	6503	SO:0001587	stop_gained	55214	4	121410	41				g.chr3:189702355G>A		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.1213C>T	chr3.hg19:g.189702355G>A	ENSP00000316881:p.Arg405*	0					LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	p.R405*	NM_018192.3	NP_060662.2	1	2	3	1.998468	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	7	1410	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	ENST00000319332.5	0	1	hg19	c.1213C>T	CCDS3294.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.249713	0.98727	2.27E-4	0.0	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	4.0	0.46444	5.87	4.0	0.46444	.	0.167866	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0519	14.1829	0.65586	0.0:0.0:0.7279:0.272	.	.	.	.	X	405;224	.	.	R	-	1	2	2	LEPREL1	191185049	191185049	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.045000	0.49838	1.477000	0.48234	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	0	0	1		11	2	2	1		1	1	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_018192			50	50		239	235	1		1	1		1	0	110	0		1	9.420291e-01	0	2	0	23	0	50	239
IL1RAP	3556	broad.mit.edu	37	3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	153	Ig-like C2-type 2.				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)			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)		GTATATAGAATATGGCATTCA	0.378																																						ENST00000412504.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(457-459)Tat>Cat		interleukin 1 receptor accessory protein							109.0	107.0	107.0					3																	190326890		2203	4300	6503	SO:0001583	missense	3556	0	0					g.chr3:190326890T>C	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.457T>C	chr3.hg19:g.190326890T>C	ENSP00000412053:p.Tyr153His	0					IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H	p.Y153H			1	2	3	1.998468	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	4	709	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	1	1	hg19	c.457T>C	CCDS3298.1	1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547035	0.04024	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.08984	5.29;4.99;5.29;5.29;5.29;3.22;3.03;3.22;4.99	5.58	-6.72	0.01755	5.58	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.236230	0.05267	N	0.516779	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.43686	-0.9376	10	0.19147	T	0.46	.	3.3556	0.07168	0.1005:0.3567:0.3054:0.2374	.	12;153;153;153	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	H	153;153;153;153;153;153;12;153;153	ENSP00000072516:Y153H;ENSP00000408893:Y153H;ENSP00000412053:Y153H;ENSP00000401132:Y153H;ENSP00000390541:Y153H;ENSP00000409352:Y153H;ENSP00000391899:Y12H;ENSP00000387371:Y153H;ENSP00000314807:Y153H	ENSP00000072516:Y153H	Y	+	1	0	0	IL1RAP	191809584	191809584	0.551000	0.26497	0.025000	0.17156	0.060000	0.15804	-0.245000	0.08890	-0.731000	0.04862	-0.263000	0.10527	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				70	70		335	329	1		1	1		0	0	91	0		1	9.892006e-01	0	6	0	30	0	70	335
IL1RAP	3556	broad.mit.edu	37	3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	328	Ig-like C2-type 3.				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)			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)		GATCTCAAGCGCAGCTATGTC	0.418																																						ENST00000412504.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(982-984)cGc>cAc		interleukin 1 receptor accessory protein		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	80.0	74.0	76.0		983,983,983,983,983,983	4.8	1.0	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/571,328/571,328/357,328/688,328/571,328/357	190347219	1,13005	2203	4300	6503	SO:0001583	missense	3556	3	121412	34				g.chr3:190347219G>A	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.983G>A	chr3.hg19:g.190347219G>A	ENSP00000412053:p.Arg328His	0					IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H	p.R328H			1	2	3	1.998468	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	8	1235	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	1	1	hg19	c.983G>A	CCDS3298.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560049|3.560049	0.65538|0.65538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.14022	.|2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.7|5.7	4.83|4.83	0.62350|0.62350	5.7|5.7	4.83|4.83	0.62350|0.62350	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.117788	.|0.64402	.|N	.|0.000018	T|T	0.31199|0.31199	0.0789|0.0789	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.998;0.987;0.996	T|T	0.11131|0.11131	-1.0600|-1.0600	5|10	.|0.13853	.|T	.|0.58	.|.	12.3332|12.3332	0.55051|0.55051	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|187;328;328;328	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	165|328;328;328;328;328;328;187;328;328	.|ENSP00000072516:R328H;ENSP00000408893:R328H;ENSP00000412053:R328H;ENSP00000401132:R328H;ENSP00000390541:R328H;ENSP00000409352:R328H;ENSP00000391899:R187H;ENSP00000387371:R328H;ENSP00000314807:R328H	.|ENSP00000072516:R328H	A|R	+|+	1|2	0|0	0|0	IL1RAP|IL1RAP	191829913|191829913	191829913|191829913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.030000|3.030000	0.49720|0.49720	1.431000|1.431000	0.47355|0.47355	0.650000|0.650000	0.86243|0.86243	GCA|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-19.999370	1	0.170000				34	32		125	125	1		1	1		0	0	31	0		1	9.998732e-01	0	11	0	44	0	34	125
FGF12	2257	broad.mit.edu	37	3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000454309.2	-	4	1337	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q|FGF12_ENST00000445105.2_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	171					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)			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)		AAACCAAGCTCGGCCTGATTC	0.413																																						ENST00000454309.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(511-513)cGa>cAa		fibroblast growth factor 12							212.0	216.0	214.0					3																	191888348		2203	4300	6503	SO:0001583	missense	2257	0	0					g.chr3:191888348C>T	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.512G>A	chr3.hg19:g.191888348C>T	ENSP00000413496:p.Arg171Gln	0					FGF12_ENST00000445105.2_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q	p.R171Q	NM_021032.4	NP_066360.1	1	2	3	1.998468	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	4	1337	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	1	1	hg19	c.512G>A	CCDS3301.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.276014	0.95459	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.07	5.2	0.72013	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92922	0.6356	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	109;171	P61328-2;P61328	.;FGF12_HUMAN	Q	109;109;109;171;66;109;72;85	ENSP00000264730:R109Q;ENSP00000393686:R109Q;ENSP00000413496:R171Q;ENSP00000400948:R66Q;ENSP00000397635:R109Q;ENSP00000410125:R72Q;ENSP00000412904:R85Q	ENSP00000264730:R109Q	R	-	2	0	0	FGF12	193371042	193371042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.578000	0.49821	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	1	0	1		2	2	2	0		0	0	211		211	210	1	2.060000	-20.000000	1	0.170000	NM_021032			239	234		915	894	1		1	0		0	0	211	0		1	1.922953e-01	0	0	0	4	0	239	915
HRASLS	57110	broad.mit.edu	37	3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000602513.1	+	2	473	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	HRASLS_ENST00000264735.2_Missense_Mutation_p.E127K			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478																																						ENST00000602513.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(64-66)Gaa>Aaa		HRAS-like suppressor							185.0	171.0	176.0					3																	192973503		2203	4300	6503	SO:0001583	missense	57110	1	121410	29				g.chr3:192973503G>A	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.64G>A	chr3.hg19:g.192973503G>A	ENSP00000473258:p.Glu22Lys	0					HRASLS_ENST00000264735.2_Missense_Mutation_p.E127K	p.E22K			1	2	3	1.998468	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	2	473	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		D2KX19	Missense_Mutation	SNP	ENST00000602513.1	1	1	hg19	c.64G>A		1	.	.	.	.	.	.	.	.	.	.	G	34	5.302243	0.95601	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85977	0.1480	9	0.87932	D	0	-1.7689	18.5869	0.91192	0.0:0.0:1.0:0.0	.	22	Q9HDD0	HRSL1_HUMAN	K	22	.	ENSP00000264735:E22K	E	+	1	0	0	HRASLS	194456197	194456197	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.963000	0.93385	2.868000	0.98415	0.557000	0.71058	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		18	2	2	1		1	1	144		144	143	1	2.060000	-20.000000	1	0.170000				133	130		651	633	1		1	0		1	0	144	0		1	7.763843e-02	0	1	0	2	0	133	651
ATP13A5	344905	broad.mit.edu	37	3	193032832	193032832	+	Missense_Mutation	SNP	C	C	T	rs74478656	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193032832C>T	ENST00000342358.4	-	18	2204	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'Flank	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	696						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTTTTCAAGCGATTCTCCAT	0.398													C|||	13	0.00259585	0.0008	0.0029	5008	,	,		16608	0.0		0.0089	False		,,,				2504	0.001					ENST00000342358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2086-2088)cGc>cAc		ATPase type 13A5		C	HIS/ARG	10,4396	17.9+/-39.9	0,10,2193	134.0	128.0	130.0		2087	4.7	1.0	3	dbSNP_131	130	74,8526	44.0+/-102.2	0,74,4226	yes	missense	ATP13A5	NM_198505.2	29	0,84,6419	TT,TC,CC		0.8605,0.227,0.6459	probably-damaging	696/1219	193032832	84,12922	2203	4300	6503	SO:0001583	missense	344905	539	121412	62				g.chr3:193032832C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2087G>A	chr3.hg19:g.193032832C>T	ENSP00000341942:p.Arg696His	0					ATP13A5_ENST00000495496.1_5'Flank|ATP13A5-AS1_ENST00000414634.1_RNA	p.R696H	NM_198505.2	NP_940907.2	1	2	3	1.998468	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	18	2204	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	1	0	hg19	c.2087G>A	CCDS33914.1	1	11	0.005036630036630037	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	C	20.3	3.962327	0.74016	0.00227	0.008605	ENSG00000187527	ENST00000342358	T	0.70164	-0.46	5.56	4.68	0.58851	5.56	4.68	0.58851	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.000000	0.64402	D	0.000001	T	0.79540	0.4463	M	0.90145	3.09	0.47065	D	0.999304	D	0.89917	1.0	D	0.77557	0.99	D	0.84977	0.0886	10	0.66056	D	0.02	-8.1514	12.8157	0.57665	0.0:0.9201:0.0:0.0799	.	696	Q4VNC0	AT135_HUMAN	H	696	ENSP00000341942:R696H	ENSP00000341942:R696H	R	-	2	0	0	ATP13A5	194515526	194515526	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.735000	0.47377	1.503000	0.48686	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	0	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-2.383027	0	0.170000	NM_198505			115	112		488	476	1		1			0	0	122	0		1	0	0	0	0	0	0	115	488
ATP13A5	344905	broad.mit.edu	37	3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498																																						ENST00000342358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1996-1998)Aag>Gag		ATPase type 13A5							140.0	141.0	141.0					3																	193036817		2203	4300	6503	SO:0001583	missense	344905	0	0					g.chr3:193036817T>C	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.1996A>G	chr3.hg19:g.193036817T>C	ENSP00000341942:p.Lys666Glu	0						p.K666E	NM_198505.2	NP_940907.2	1	2	3	1.998468	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	17	2113	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	1	1	hg19	c.1996A>G	CCDS33914.1	1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678550	0.00751	.	.	ENSG00000187527	ENST00000342358	T	0.69561	-0.41	5.89	5.89	0.94794	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.607321	0.17170	N	0.184335	T	0.35038	0.0918	N	0.02296	-0.605	0.09310	N	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.27938	-1.0059	10	0.02654	T	1	-2.4489	8.7358	0.34528	0.0:0.0835:0.0:0.9165	.	666	Q4VNC0	AT135_HUMAN	E	666	ENSP00000341942:K666E	ENSP00000341942:K666E	K	-	1	0	0	ATP13A5	194519511	194519511	0.372000	0.25064	0.047000	0.18901	0.004000	0.04260	1.395000	0.34520	2.251000	0.74343	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	0		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000	NM_198505			129	123		549	543	1		1			0	0	149	0		1	0	0	0	0	0	0	129	549
ATP13A5	344905	broad.mit.edu	37	3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	641						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483																																						ENST00000342358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1921-1923)aaG>aaT		ATPase type 13A5							132.0	135.0	134.0					3																	193036890		2203	4300	6503	SO:0001583	missense	344905	0	0					g.chr3:193036890C>A	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.1923G>T	chr3.hg19:g.193036890C>A	ENSP00000341942:p.Lys641Asn	0						p.K641N	NM_198505.2	NP_940907.2	1	2	3	1.998468	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	17	2040	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	1	1	hg19	c.1923G>T	CCDS33914.1	1	.	.	.	.	.	.	.	.	.	.	C	6.096	0.385934	0.11524	.	.	ENSG00000187527	ENST00000342358	T	0.70869	-0.52	5.73	1.42	0.22433	5.73	1.42	0.22433	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.269670	0.05084	N	0.484003	T	0.55878	0.1948	N	0.25647	0.755	0.22745	N	0.99878	B	0.27264	0.173	B	0.29440	0.102	T	0.39187	-0.9626	10	0.20046	T	0.44	-5.0747	4.883	0.13688	0.0:0.563:0.1789:0.2581	.	641	Q4VNC0	AT135_HUMAN	N	641	ENSP00000341942:K641N	ENSP00000341942:K641N	K	-	3	2	2	ATP13A5	194519584	194519584	0.001000	0.12720	0.848000	0.33437	0.524000	0.34500	-0.266000	0.08631	0.255000	0.21593	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	0		2	2	2	0		0	0	186		186	185	1	2.060000	-20.000000	1	0.170000	NM_198505			142	139		539	534	1		1			0	0	186	0		1	0	0	0	0	0	0	142	539
ATP13A5	344905	broad.mit.edu	37	3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463																																						ENST00000342358.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(52-54)gaG>gaT		ATPase type 13A5							174.0	160.0	165.0					3																	193096461		2203	4300	6503	SO:0001583	missense	344905	0	0					g.chr3:193096461C>A	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.54G>T	chr3.hg19:g.193096461C>A	ENSP00000341942:p.Glu18Asp	0						p.E18D	NM_198505.2	NP_940907.2	1	2	3	1.998468	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	1	171	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	1	1	hg19	c.54G>T	CCDS33914.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567558	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.51071	2.2;0.72	4.94	3.98	0.46160	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000028	T	0.30386	0.0763	N	0.25380	0.74	0.33589	D	0.600871	B	0.24618	0.107	B	0.27262	0.078	T	0.26258	-1.0108	10	0.10111	T	0.7	-11.1331	9.829	0.40930	0.2044:0.7956:0.0:0.0	.	18	Q4VNC0	AT135_HUMAN	D	18	ENSP00000341942:E18D;ENSP00000389416:E18D	ENSP00000341942:E18D	E	-	3	2	2	ATP13A5	194579155	194579155	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.244000	0.18124	2.678000	0.91216	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	1		2	2	2	0		0	0	123		123	121	1	2.060000	-3.166262	1	0.170000	NM_198505			122	121		535	527	1		1			0	0	123	0		1	0	0	0	0	0	0	122	535
ATP13A4	84239	broad.mit.edu	37	3	193166086	193166086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	687						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398																																						ENST00000342695.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2059-2061)ggG>ggA		ATPase type 13A4							119.0	112.0	114.0					3																	193166086		2203	4300	6503	SO:0001819	synonymous_variant	84239	0	0					g.chr3:193166086C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2061G>A	chr3.hg19:g.193166086C>T		0					ATP13A4_ENST00000392443.3_Silent_p.G668G	p.G687G	NM_032279.2	NP_115655.2	1	2	3	1.998468	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	18	2383	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	1	1	hg19	c.2061G>A	CCDS3304.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_032279			70	70		368	355	1		1			0	0	76	0		1	0	0	0	0	0	0	70	368
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209					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.K209K(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						ATGCAAAAAAGTCCAAATTCA	0.373																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.K209K(1)	large_intestine(1)	77						c.(625-627)aaG>aaA		potassium voltage-gated channel, subfamily H (eag-related), member 8							147.0	136.0	140.0					3																	19389273		2203	4299	6502	SO:0001819	synonymous_variant	131096	1	121404	31				g.chr3:19389273G>A	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.627G>A	chr3.hg19:g.19389273G>A		0					KCNH8_ENST00000475063.1_3'UTR	p.K209K	NM_144633.2	NP_653234.2	1	2	3	1.998468	Q96L42	KCNH8_HUMAN		5	893	+			B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	1	1	hg19	c.627G>A	CCDS2632.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	1	0	1		23	2	2	0		0	1	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_144633			136	134		500	493	0		1	1		0	0	85	0		1	1.182998e-01	0	3	0	0	0	136	500
ATP13A4	84239	broad.mit.edu	37	3	193171892	193171892	+	Silent	SNP	C	C	T	rs200015919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	675						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448																																						ENST00000342695.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2023-2025)acG>acA		ATPase type 13A4		C		1,4405	2.1+/-5.4	0,1,2202	125.0	105.0	112.0		2025	-6.6	0.0	3		112	0,8600		0,0,4300	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		675/1197	193171892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84239	3	121412	35				g.chr3:193171892C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2025G>A	chr3.hg19:g.193171892C>T		0					ATP13A4_ENST00000392443.3_Silent_p.T656T	p.T675T	NM_032279.2	NP_115655.2	1	2	3	1.998468	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	17	2347	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	1	1	hg19	c.2025G>A	CCDS3304.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-4.015653	1	0.170000	NM_032279			64	63		220	215	1		1	0		0	0	55	0		1	5.226481e-02	0	0	0	2	0	64	220
CPN2	1370	broad.mit.edu	37	3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	484					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662																																						ENST00000323830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1450-1452)aGc>aTc		carboxypeptidase N, polypeptide 2							47.0	49.0	48.0					3																	194061981		2203	4300	6503	SO:0001583	missense	1370	0	0					g.chr3:194061981C>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1451G>T	chr3.hg19:g.194061981C>A	ENSP00000319464:p.Ser484Ile	0					CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	p.S484I	NM_001080513.2	NP_001073982	1	2	3	1.998468	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	2	1540	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	1	1	hg19	c.1451G>T	CCDS33920.1	1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316294	0.60524	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.171304	0.28247	N	0.016057	T	0.41213	0.1149	L	0.27053	0.805	0.30440	N	0.77626	P	0.49961	0.93	P	0.44732	0.459	T	0.50634	-0.8805	10	0.62326	D	0.03	.	8.2362	0.31627	0.0:0.758:0.1589:0.0831	.	484	P22792	CPN2_HUMAN	I	484	ENSP00000319464:S484I;ENSP00000402232:S484I	ENSP00000319464:S484I	S	-	2	0	0	CPN2	195543676	195543676	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	2.702000	0.92279	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	0	0	1		22	2	2	1		1	1	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_001080513			71	70		298	296	0		1			1	0	51	0		1	0	0	0	0	0	0	71	298
GP5	2814	broad.mit.edu	37	3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)	373					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGCCTGTTGCGGCGCAG	0.711																																						ENST00000401815.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998645	0.990000	1.000000																										0				35						c.(1117-1119)aAc>aGc		glycoprotein V (platelet)							6.0	8.0	7.0					3																	194117894		2082	4117	6199	SO:0001583	missense	2814	0	0					g.chr3:194117894T>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1118A>G	chr3.hg19:g.194117894T>C	ENSP00000383931:p.Asn373Ser	0					GP5_ENST00000323007.3_Missense_Mutation_p.N373S	p.N373S			1	2	3	1.998468	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	1	1189	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	D1MER9	Missense_Mutation	SNP	ENST00000401815.1	0	1	hg19	c.1118A>G	CCDS3307.1	1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145584	0.37923	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.72615	-0.67;-0.67	4.19	1.64	0.23874	4.19	1.64	0.23874	.	0.148584	0.31358	N	0.007783	T	0.76011	0.3928	M	0.92738	3.34	0.20873	N	0.999839	P	0.48834	0.916	P	0.45681	0.49	T	0.69548	-0.5116	10	0.56958	D	0.05	.	7.2592	0.26193	0.0:0.0764:0.2703:0.6533	.	373	P40197	GPV_HUMAN	S	373	ENSP00000383931:N373S;ENSP00000319286:N373S	ENSP00000319286:N373S	N	-	2	0	0	GP5	195599183	195599183	0.997000	0.39634	0.183000	0.23137	0.335000	0.28730	1.930000	0.40124	0.204000	0.20548	-0.478000	0.04885	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_004488			12	12		56	56	1		1			0	0	14	0		9.994122e-01	0	0	0	0	0	0	12	56
GP5	2814	broad.mit.edu	37	3	194118727	194118727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)	95					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577																																						ENST00000401815.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(283-285)agT>agC		glycoprotein V (platelet)							78.0	83.0	81.0					3																	194118727		2203	4300	6503	SO:0001819	synonymous_variant	2814	0	0					g.chr3:194118727A>G	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.285T>C	chr3.hg19:g.194118727A>G		0					GP5_ENST00000323007.3_Silent_p.S95S	p.S95S			1	2	3	1.998468	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	1	356	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	D1MER9	Silent	SNP	ENST00000401815.1	1	1	hg19	c.285T>C	CCDS3307.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	1		2	2	2	0		0	0	125		125	119	1	2.060000	-20.000000	1	0.170000	NM_004488			91	91		521	515	0		1			0	0	125	0		1	0	0	0	0	0	0	91	521
GP5	2814	broad.mit.edu	37	3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)	46	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAGGCCTAGCGCGGAGATG	0.697																																						ENST00000401815.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(136-138)Cta>Ata		glycoprotein V (platelet)							35.0	35.0	35.0					3																	194118876		2194	4284	6478	SO:0001583	missense	2814	0	0					g.chr3:194118876G>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.136C>A	chr3.hg19:g.194118876G>T	ENSP00000383931:p.Leu46Ile	0					GP5_ENST00000323007.3_Missense_Mutation_p.L46I	p.L46I			1	2	3	1.998468	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	1	207	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	D1MER9	Missense_Mutation	SNP	ENST00000401815.1	1	1	hg19	c.136C>A	CCDS3307.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292667	0.40594	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42131	0.98;0.98	4.72	2.91	0.33838	4.72	2.91	0.33838	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31495	N	0.007541	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.18085	-1.0348	10	0.21014	T	0.42	.	8.376	0.32442	0.2441:0.0:0.7559:0.0	.	46	P40197	GPV_HUMAN	I	46	ENSP00000383931:L46I;ENSP00000319286:L46I	ENSP00000319286:L46I	L	-	1	2	2	GP5	195600165	195600165	0.002000	0.14202	0.099000	0.21106	0.162000	0.22319	0.483000	0.22292	1.290000	0.44636	0.561000	0.74099	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_004488			71	70		353	347	1		1			0	0	53	0		1	0	0	0	0	0	0	71	353
ACAP2	23527	broad.mit.edu	37	3	195013054	195013054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	631					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)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413																																						ENST00000326793.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1891-1893)gaC>gaT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							165.0	163.0	163.0					3																	195013054		2203	4300	6503	SO:0001819	synonymous_variant	23527	1	121412	33				g.chr3:195013054G>A		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.1893C>T	chr3.hg19:g.195013054G>A		0						p.D631D	NM_012287.5	NP_036419.3	1	2	3	1.998468	Q15057	ACAP2_HUMAN		19	2123	-			A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	1	1	hg19	c.1893C>T	CCDS33924.1	1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220917	0.09863	.	.	ENSG00000114331	ENST00000450200	.	.	.	5.43	-1.23	0.09465	5.43	-1.23	0.09465	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	.	5.4496	0.16556	0.5395:0.0:0.2902:0.1702	.	.	.	.	C	225	.	.	R	-	1	0	0	ACAP2	196494343	196494343	0.926000	0.31397	0.997000	0.53966	0.731000	0.41821	0.075000	0.14686	-0.150000	0.11195	-2.006000	0.00442	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_012287			99	96		498	489	1		1	1		0	0	104	0		1	9.999993e-01	0	27	0	75	0	99	498
ACAP2	23527	broad.mit.edu	37	3	195022900	195022900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	374					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)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTATCCAGCTTCTAAAAG	0.348																																						ENST00000326793.6	1.000000	0.290000	5.500000e-01	3.600000e-01	0.440000	0.475124	0.440000	0.430000																										0				27						c.(1120-1122)Ctg>Ttg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							82.0	94.0	90.0					3																	195022900		2203	4300	6503	SO:0001819	synonymous_variant	23527	0	0					g.chr3:195022900G>A		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.1120C>T	chr3.hg19:g.195022900G>A		0						p.L374L	NM_012287.5	NP_036419.3	1	2	3	1.998468	Q15057	ACAP2_HUMAN		14	1350	-			A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	1	1	hg19	c.1120C>T	CCDS33924.1	0	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708055	0.15239	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.65	4.76	0.60689	5.65	4.76	0.60689	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58752	-0.7581	4	.	.	.	.	9.7794	0.40639	0.0746:0.1394:0.786:0.0	.	.	.	.	V	248	.	.	A	-	2	0	0	ACAP2	196504189	196504189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	1.357000	0.45904	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	0	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-3.784638	1	0.170000	NM_012287			28	25		738	722	0		1	0		0	0	124	0		1	7.527469e-01	0	0	0	73	0	28	738
MUC4	4585	broad.mit.edu	37	3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000346145.4	-	16	2302	c.2263G>A	c.(2263-2265)Gac>Aac	p.D755N	MUC4_ENST00000463781.3_Missense_Mutation_p.D4991N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1748					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)			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)		AGCTCCAAGTCGGTGCAGCTG	0.532																																						ENST00000346145.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2263-2265)Gac>Aac		mucin 4, cell surface associated							238.0	233.0	235.0					3																	195486010		2203	4300	6503	SO:0001583	missense	4585	1	121412	36				g.chr3:195486010C>T	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.2263G>A	chr3.hg19:g.195486010C>T	ENSP00000304207:p.Asp755Asn	0					MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000463781.3_Missense_Mutation_p.D4991N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N	p.D755N	NM_004532.5	NP_004523.3	0	0	0	1.946969	Q99102	MUC4_HUMAN	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)	16	2302	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	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	1	1	hg19	c.2263G>A	CCDS3310.1	1	.	.	.	.	.	.	.	.	.	.	.	9.154	1.017007	0.19355	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38560	1.13;1.49;1.48;1.45	4.39	1.54	0.23209	4.39	1.54	0.23209	.	1.090690	0.07014	N	0.825628	T	0.32041	0.0816	L	0.52364	1.645	0.09310	N	1	P;P;P;P;P;P	0.49253	0.663;0.469;0.469;0.58;0.58;0.921	B;B;B;B;B;B	0.39217	0.153;0.069;0.069;0.056;0.056;0.294	T	0.24225	-1.0166	10	0.34782	T	0.22	-8.7228	3.1604	0.06518	0.2124:0.5678:0.0:0.2198	.	4863;704;755;4991;4939;1696	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	N	704;755;4991;4939;1491	ENSP00000338109:D704N;ENSP00000304207:D755N;ENSP00000417498:D4991N;ENSP00000420243:D4939N	ENSP00000304207:D755N	D	-	1	0	0	MUC4	196971681	196971681	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.222000	0.17699	0.571000	0.29365	0.450000	0.29827	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	1	0	1		2	2	2	0		0	0	333		333	333	1	2.060000	-20.000000	1	0.170000	NM_018406			280	270		1208	1182	1		1	1		0	0	333	0		1	4.620258e-01	0	5	0	3	0	280	1208
MUC4	4585	broad.mit.edu	37	3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000346145.4	-	15	2125	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	MUC4_ENST00000463781.3_Missense_Mutation_p.G4932R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					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)			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)		GTGTGAAGTCCGATGCTTGCG	0.552																																						ENST00000346145.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2086-2088)Gga>Aga		mucin 4, cell surface associated							128.0	114.0	119.0					3																	195487809		2203	4300	6503	SO:0001583	missense	4585	4	121412	37				g.chr3:195487809C>T	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.2086G>A	chr3.hg19:g.195487809C>T	ENSP00000304207:p.Gly696Arg	0					MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000463781.3_Missense_Mutation_p.G4932R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R	p.G696R	NM_004532.5	NP_004523.3	0	0	0	1.946969	Q99102	MUC4_HUMAN	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)	15	2125	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	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	1	1	hg19	c.2086G>A	CCDS3310.1	1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.765484	0.49574	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.61040	0.14;0.5;0.36;0.35	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000100	T	0.74772	0.3760	M	0.72894	2.215	0.29535	N	0.852531	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;0.991;0.995;0.999;0.999;0.998	T	0.73512	-0.3959	10	0.87932	D	0	-12.1818	15.4417	0.75187	0.0:1.0:0.0:0.0	.	4804;645;696;4932;4880;1637	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	645;696;4932;4880;1432	ENSP00000338109:G645R;ENSP00000304207:G696R;ENSP00000417498:G4932R;ENSP00000420243:G4880R	ENSP00000304207:G696R	G	-	1	0	0	MUC4	196973480	196973480	0.131000	0.22433	0.062000	0.19696	0.017000	0.09413	2.220000	0.42908	2.333000	0.79357	0.556000	0.70494	GGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.110554	1	0.170000	NM_018406			92	88		357	349	1		1	1		0	0	94	0		1	8.887251e-01	0	12	0	5	0	92	357
MUC4	4585	broad.mit.edu	37	3	195515849	195515849	+	Missense_Mutation	SNP	C	C	T	rs373816796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	ENST00000463781.3	-	2	3061	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	873	Ser-rich.				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)			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)		GTGCCGGGGACGATCGAAGAC	0.592																																						ENST00000463781.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999540	0.990000	1.000000																										0				51						c.(2602-2604)Gtc>Atc		mucin 4, cell surface associated			ILE/VAL,,	0,4186		0,0,2093	62.0	66.0	65.0		2602,,	-2.4	0.0	3		65	1,8383		0,1,4191	no	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	29,,	0,1,6284	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging,,	868/5413,,	195515849	1,12569	2093	4192	6285	SO:0001583	missense	4585	5	121068	33				g.chr3:195515849C>T	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.2602G>A	chr3.hg19:g.195515849C>T	ENSP00000417498:p.Val868Ile	0					MUC4_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.V868I	NM_018406.6	NP_060876.5	0	0	0	1.946969	Q99102	MUC4_HUMAN	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)	2	3061	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	1	1	hg19	c.2602G>A	CCDS54700.1	1	.	.	.	.	.	.	.	.	.	.	-	7.090	0.572023	0.13623	0.0	1.19E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.43294	0.95;0.97	2.78	-2.37	0.06643	2.78	-2.37	0.06643	.	7.098020	0.00166	N	0.000007	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P;B	0.35011	0.48;0.313	B;B	0.21151	0.033;0.011	T	0.04413	-1.0953	10	0.38643	T	0.18	-0.0129	0.5162	0.00604	0.1795:0.2872:0.1764:0.3569	.	868;873	E7ESK3;Q99102	.;MUC4_HUMAN	I	868;868;842	ENSP00000417498:V868I;ENSP00000420243:V868I	ENSP00000376209:V842I	V	-	1	0	0	MUC4	197000244	197000244	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.563000	0.00430	-0.661000	0.05345	0.579000	0.79373	GTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-14.355090	1	0.170000	NM_018406			25	25		137	134	1		1	1		0	0	37	0		9.999999e-01	1.229272e-01	0	4	0	0	0	25	137
MUC4	4585	broad.mit.edu	37	3	195516521	195516521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	ENST00000463781.3	-	2	2389	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	649					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)			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)		TGTGTGGTCTGCGGGGCTTGA	0.527																																						ENST00000463781.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1930-1932)Cag>Tag		mucin 4, cell surface associated							265.0	273.0	270.0					3																	195516521		2075	4202	6277	SO:0001587	stop_gained	4585	0	0					g.chr3:195516521G>A	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.1930C>T	chr3.hg19:g.195516521G>A	ENSP00000417498:p.Gln644*	0					MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.Q644*	NM_018406.6	NP_060876.5	0	0	0	1.946969	Q99102	MUC4_HUMAN	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)	2	2389	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	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	0	1	hg19	c.1930C>T	CCDS54700.1	1	.	.	.	.	.	.	.	.	.	.	-	24.6	4.545486	0.86022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.85	-3.41	0.04839	2.85	-3.41	0.04839	.	4.474510	0.00597	N	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	1.7516	9.6298	0.39772	0.0:0.6311:0.2212:0.1476	.	.	.	.	X	644;644;618	.	ENSP00000376209:Q618X	Q	-	1	0	0	MUC4	197000916	197000916	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.088000	0.03379	-0.837000	0.04223	-0.184000	0.12912	CAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1		2	2	2	0		0	0	168		168	166	1	2.060000	-20.000000	1	0.170000	NM_018406			151	149		715	689	1		1	1		0	0	168	0		1	2.130379e-01	0	5	0	0	0	151	715
MUC4	4585	broad.mit.edu	37	3	195517585	195517585	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	ENST00000463781.3	-	2	1325	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	294					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)			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)		GACTGGCATAAGACTTCCAGT	0.458																																						ENST00000463781.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(865-867)cTt>cCt		mucin 4, cell surface associated							176.0	162.0	166.0					3																	195517585		1984	4160	6144	SO:0001583	missense	4585	0	0					g.chr3:195517585A>G	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.866T>C	chr3.hg19:g.195517585A>G	ENSP00000417498:p.Leu289Pro	0					MUC4_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.L289P	NM_018406.6	NP_060876.5	0	0	0	1.946969	Q99102	MUC4_HUMAN	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)	2	1325	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	1	1	hg19	c.866T>C	CCDS54700.1	1	.	.	.	.	.	.	.	.	.	.	-	3.264	-0.150552	0.06585	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36520	1.25;1.25	2.84	-1.15	0.09709	2.84	-1.15	0.09709	.	.	.	.	.	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.20767	0.031;0.004	T	0.27331	-1.0077	9	0.25106	T	0.35	.	6.2536	0.20861	0.4505:0.0:0.5495:0.0	.	289;294	E7ESK3;Q99102	.;MUC4_HUMAN	P	289;289;263	ENSP00000417498:L289P;ENSP00000420243:L289P	ENSP00000376209:L263P	L	-	2	0	0	MUC4	197001980	197001980	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.104000	0.03326	-0.195000	0.10382	0.436000	0.28706	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_018406			83	83		296	289	1		1	1		0	0	77	0		1	3.945193e-01	0	5	0	1	0	83	296
TNK2	10188	broad.mit.edu	37	3	195593780	195593780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000381916.2_Silent_p.S1078S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1030				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672																																						ENST00000333602.6	1.000000	0.790000	1	9.900000e-01	0.990000	0.984568	0.990000	1.000000																										0				29						c.(3088-3090)tcC>tcT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						24.0	29.0	27.0					3																	195593780		2195	4297	6492	SO:0001819	synonymous_variant	10188	0	0					g.chr3:195593780G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3090C>T	chr3.hg19:g.195593780G>A		0					TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000381916.2_Silent_p.S1078S	p.S1030S	NM_005781.4	NP_005772.3	0	0	0	1.946969	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	14	3707	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	0	1	hg19	c.3090C>T	CCDS33928.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-19.987850	1	0.170000	NM_005781			13	13		90	90	1		1	1		0	0	17	0		9.996529e-01	9.999923e-01	0	66	0	103	0	13	90
TNK2	10188	broad.mit.edu	37	3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1005				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677																																						ENST00000333602.6	0.780000	0.210000	6.100000e-01	3.100000e-01	0.440000	0.468008	0.440000	0.420000																										0				29						c.(3013-3015)cCc>cAc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						30.0	34.0	33.0					3																	195593856		2200	4300	6500	SO:0001583	missense	10188	0	0					g.chr3:195593856G>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3014C>A	chr3.hg19:g.195593856G>T	ENSP00000329425:p.Pro1005His	0					TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	p.P1005H	NM_005781.4	NP_005772.3	0	0	0	1.946969	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	14	3631	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	1	1	hg19	c.3014C>A	CCDS33928.1	0	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181629	0.57800	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.74947	-0.82;-0.89;2.94;-0.87;-0.82	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.114465	0.64402	D	0.000013	T	0.81541	0.4844	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.947;0.999;0.976;1.0	P;P;P;D	0.70487	0.628;0.855;0.628;0.969	T	0.82436	-0.0458	10	0.72032	D	0.01	.	18.7512	0.91816	0.0:0.0:1.0:0.0	.	1005;1053;1007;532	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	H	1005;1053;574;1007;1005	ENSP00000329425:P1005H;ENSP00000371341:P1053H;ENSP00000398614:P574H;ENSP00000392546:P1007H;ENSP00000376201:P1005H	ENSP00000329425:P1005H	P	-	2	0	0	TNK2	197078253	197078253	1.000000	0.71417	0.987000	0.45799	0.639000	0.38242	4.289000	0.59013	2.768000	0.95171	0.655000	0.94253	CCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-10.201650	1	0.170000	NM_005781			8	8		204	199	0		1	1		0	0	25	0		9.887228e-01	9.754894e-01	0	5	0	164	0	8	204
TM4SF19	116211	broad.mit.edu	37	3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A	rs200450880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000273695.3	-	5	718	c.593G>T	c.(592-594)aGc>aTc	p.S198I	TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.A197S|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000420226.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	198						integral component of membrane (GO:0016021)				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)		GCCCAGGAGGCTGTTGATGAC	0.547																																						ENST00000273695.3	1.000000	0.390000	8.700000e-01	5.000000e-01	0.630000	0.672730	0.630000	0.610000																										0				12						c.(592-594)aGc>aTc		transmembrane 4 L six family member 19							84.0	82.0	83.0					3																	196050725		2203	4300	6503	SO:0001583	missense	116211	0	0					g.chr3:196050725C>A	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.593G>T	chr3.hg19:g.196050725C>A	ENSP00000273695:p.Ser198Ile	0					TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.A197S|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000444939.1_RNA	p.S198I	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	1	2	3	2.021329	Q96DZ7	T4S19_HUMAN	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)	5	718	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	1	1	hg19	c.593G>T	CCDS3316.1	0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.9|21.9|21.9	4.218752|4.218752|4.218752	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822|ENST00000454715;ENST00000273695	T|.|T;T	0.26660|.|0.32753	1.72|.|1.44;1.44	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|.|0.148706	.|.|0.48767	.|.|D	.|.|0.000169	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.40063|0.40063|0.40063	D|D|D	0.975928|0.975928|0.975928	D|.|D;D	0.76494|.|0.69078	0.999|.|0.997;0.968	D|.|D;P	0.78314|.|0.68621	0.991|.|0.959;0.713	T|T|T	0.55166|0.55166|0.55166	-0.8183|-0.8183|-0.8183	9|5|10	0.15952|.|0.87932	T|.|D	0.53|.|0	-0.2669|-0.2669|-0.2669	14.4827|14.4827|14.4827	0.67594|0.67594|0.67594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	197|.|172;198	C9JCD5|.|E9PH22;Q96DZ7	.|.|.;T4S19_HUMAN	S|H|I	197|64|172;198	ENSP00000395280:A197S|.|ENSP00000387728:S172I;ENSP00000273695:S198I	ENSP00000395280:A197S|.|ENSP00000273695:S198I	A|Q|S	-|-|-	1|3|2	0|2|0	0|2|0	TM4SF19|TM4SF19|TM4SF19	197535122|197535122|197535122	197535122|197535122|197535122	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.943000|0.943000|0.943000	0.58893|0.58893|0.58893	2.774000|2.774000|2.774000	0.47694|0.47694|0.47694	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|CAG|AGC	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-19.858930	1	0.170000	NM_138461			19	19		351	340	0		1	0		0	0	66	0		9.999887e-01	5.219083e-02	0	1	0	6	0	19	351
RNF168	165918	broad.mit.edu	37	3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	rs201915239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398																																						ENST00000318037.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(391-393)Cga>Tga		ring finger protein 168, E3 ubiquitin protein ligase		G	stop/ARG	0,4404		0,0,2202	116.0	108.0	111.0		391	2.7	1.0	3		111	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	RNF168	NM_152617.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		131/572	196214437	1,13001	2202	4299	6501	SO:0001587	stop_gained	165918	0	0					g.chr3:196214437G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.391C>T	chr3.hg19:g.196214437G>A	ENSP00000320898:p.Arg131*	0						p.R131*	NM_152617.3	NP_689830.2	1	2	3	2.021329	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	3	985	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Q8NA67|Q96NS4	Nonsense_Mutation	SNP	ENST00000318037.3	0	1	hg19	c.391C>T	CCDS3317.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	2	RNF168	197698834	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	0	0	1		29	5	2	1		1	2	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_152617			100	96		418	408	0		1	1		1	0	78	0		1	9.951090e-01	0	8	0	55	0	100	418
FBXO45	200933	broad.mit.edu	37	3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	167	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577																																						ENST00000311630.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				7						c.(499-501)aCt>aTt		F-box protein 45							41.0	42.0	42.0					3																	196304505		1949	4144	6093	SO:0001583	missense	200933	0	0					g.chr3:196304505C>T	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.500C>T	chr3.hg19:g.196304505C>T	ENSP00000310332:p.Thr167Ile	0					FBXO45_ENST00000440469.1_5'UTR	p.T167I	NM_001105573.1	NP_001099043.1	1	2	3	2.021329	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	2	797	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	1	1	hg19	c.500C>T	CCDS46985.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688765	0.88639	.	.	ENSG00000174013	ENST00000311630	T	0.60424	0.19	4.95	4.95	0.65309	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098281	0.64402	D	0.000001	D	0.82655	0.5084	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87388	0.2361	10	0.87932	D	0	-20.9781	18.4427	0.90673	0.0:1.0:0.0:0.0	.	167	P0C2W1	FBSP1_HUMAN	I	167	ENSP00000310332:T167I	ENSP00000310332:T167I	T	+	2	0	0	FBXO45	197788902	197788902	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.099000	0.76981	2.608000	0.88229	0.456000	0.33151	ACT	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				23	23		99	97	1		1	1		0	0	21	0		9.999997e-01	9.987846e-01	0	10	0	40	0	23	99
PAK2	5062	broad.mit.edu	37	3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	39					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)			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)		AGTTTGAAACCTTTGCCCTCT	0.473																																						ENST00000327134.3	1.000000	0.390000	6.500000e-01	4.500000e-01	0.530000	0.584087	0.530000	0.520000																										0				12						c.(115-117)cCt>cAt		p21 protein (Cdc42/Rac)-activated kinase 2							141.0	148.0	145.0					3																	196509633		2203	4300	6503	SO:0001583	missense	5062	0	0					g.chr3:196509633C>A	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.116C>A	chr3.hg19:g.196509633C>A	ENSP00000314067:p.Pro39His	0					RNU6-42P_ENST00000384165.1_RNA	p.P39H	NM_002577.4	NP_002568.2	1	2	3	2.021329	Q13177	PAK2_HUMAN	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)	2	438	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	1	1	hg19	c.116C>A	CCDS3321.1	0	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430706	0.83776	.	.	ENSG00000180370	ENST00000327134	T	0.72505	-0.66	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85194	0.1011	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	39	Q13177	PAK2_HUMAN	H	39	ENSP00000314067:P39H	ENSP00000314067:P39H	P	+	2	0	0	PAK2	197994030	197994030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	1	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-3.124967	1	0.170000	NM_002577			50	48		1085	1061	0		1	1		0	0	216	0		1	9.969398e-01	0	7	0	180	0	50	1085
PAK2	5062	broad.mit.edu	37	3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		GAATACCTTGCTGGGGGGTCA	0.413																																						ENST00000327134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(979-981)gCt>gAt		p21 protein (Cdc42/Rac)-activated kinase 2							163.0	159.0	160.0					3																	196541366		2203	4300	6503	SO:0001583	missense	5062	0	0					g.chr3:196541366C>A	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.980C>A	chr3.hg19:g.196541366C>A	ENSP00000314067:p.Ala327Asp	0						p.A327D	NM_002577.4	NP_002568.2	1	2	3	2.021329	Q13177	PAK2_HUMAN	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)	11	1302	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	1	1	hg19	c.980C>A	CCDS3321.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038673|3.038673	0.55003|0.55003	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.12672|.	2.66|.	5.85|5.85	4.97|4.97	0.65823|0.65823	5.85|5.85	4.97|4.97	0.65823|0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.046739|.	0.85682|.	N|.	0.000000|.	T|T	0.45518|0.45518	0.1346|0.1346	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	P|.	0.37500|.	0.597|.	B|.	0.35899|.	0.213|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.33141|.	T|.	0.24|.	.|.	16.3062|16.3062	0.82849|0.82849	0.1334:0.8666:0.0:0.0|0.1334:0.8666:0.0:0.0	.|.	327|.	Q13177|.	PAK2_HUMAN|.	D|M	327|70	ENSP00000314067:A327D|.	ENSP00000314067:A327D|.	A|L	+|+	2|1	0|2	0|2	PAK2|PAK2	198025763|198025763	198025763|198025763	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	7.463000|7.463000	0.80869|0.80869	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCT|CTG	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	1	0	1		2	2	2	0		0	0	163		163	163	1	2.060000	-20.000000	1	0.170000	NM_002577			150	147		642	624	1		1	1		0	0	163	0		1	1	0	76	0	199	0	150	642
SENP5	205564	broad.mit.edu	37	3	196613102	196613102	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000445299.2_Silent_p.G350G|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	350					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)			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)		AACAGAATGGCAGTGCCACAA	0.488																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5	1.000000	0.490000	1	6.300000e-01	0.810000	0.814184	0.810000	1.000000																										0				32						c.(1048-1050)ggC>ggA		SUMO1/sentrin specific peptidase 5							79.0	71.0	73.0					3																	196613102		2203	4300	6503	SO:0001819	synonymous_variant	205564	0	0					g.chr3:196613102C>A	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.1050C>A	chr3.hg19:g.196613102C>A		0					SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	p.G350G	NM_152699.4	NP_689912.2	1	2	3	2.021329	Q96HI0	SENP5_HUMAN	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)	2	1299	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	1	1	hg19	c.1050C>A	CCDS3322.1	0																																																																																								1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-19.989940	1	0.170000	NM_152699			18	18		256	254	0		1	1		0	0	66	0		9.999834e-01	7.392809e-01	0	3	0	36	0	18	256
NCBP2	22916	broad.mit.edu	37	3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000321256.5	-	2	280	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_ENST00000422610.1_5'UTR|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000467803.1_5'Flank	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	63	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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 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 RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|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)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338																																						ENST00000321256.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(187-189)Agt>Cgt		nuclear cap binding protein subunit 2, 20kDa							106.0	100.0	102.0					3																	196666195		2203	4300	6503	SO:0001583	missense	22916	0	0					g.chr3:196666195T>G	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.187A>C	chr3.hg19:g.196666195T>G	ENSP00000326806:p.Ser63Arg	0					NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000467803.1_5'Flank|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000427641.2_Intron|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'UTR	p.S63R	NM_007362.3	NP_031388.2	1	2	3	2.021329	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	2	280	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	1	1	hg19	c.187A>C	CCDS3323.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747173	0.69418	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.74315	-0.83;-0.83	5.6	4.42	0.53409	5.6	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.077733	0.85682	D	0.000000	T	0.79118	0.4392	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.964;0.953;0.969	T	0.80462	-0.1372	10	0.87932	D	0	.	12.4287	0.55561	0.0:0.0:0.1403:0.8597	.	45;82;63	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	R	63;45	ENSP00000326806:S63R;ENSP00000412785:S45R	ENSP00000326806:S63R	S	-	1	0	0	NCBP2	198150592	198150592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.863000	0.39459	1.048000	0.40298	0.459000	0.35465	AGT	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_007362			61	60		273	269	1		1	1		0	0	82	0		1	1	0	96	0	238	0	61	273
PIGZ	80235	broad.mit.edu	37	3	196678897	196678897	+	Silent	SNP	C	C	T	rs139328732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000412723.1	-	2	152	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000443835.1_Silent_p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	2					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-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;0.00603)		ATCCACAGATCTGCATCTGTT	0.418																																						ENST00000412723.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(4-6)caG>caA		phosphatidylinositol glycan anchor biosynthesis, class Z		C		0,4406		0,0,2203	71.0	62.0	65.0		6	2.8	0.0	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIGZ	NM_025163.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2/580	196678897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80235	2	121408	29				g.chr3:196678897C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.6G>A	chr3.hg19:g.196678897C>T		0					PIGZ_ENST00000443835.1_Silent_p.Q2Q	p.Q2Q	NM_025163.2	NP_079439.2	1	2	3	2.021329	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	2	152	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Q9H9G6	Silent	SNP	ENST00000412723.1	1	1	hg19	c.6G>A	CCDS3324.1	1																																																																																								1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	1	0	0		2	2	2	0		0	0	25		25	23	1	2.060000	-20.000000	1	0.170000	NM_025163			26	26		92	92	0		1	1		0	0	25	0		1	6.840883e-01	0	3	0	7	0	26	92
DLG1	1739	broad.mit.edu	37	3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000419354.1	-	5	656	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000346964.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	124					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363																																						ENST00000419354.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				26						c.(370-372)Caa>Taa		discs, large homolog 1 (Drosophila)							168.0	161.0	163.0					3																	196921409		2203	4299	6502	SO:0001587	stop_gained	1739	0	0					g.chr3:196921409G>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.370C>T	chr3.hg19:g.196921409G>A	ENSP00000407531:p.Gln124*	0					DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*	p.Q124*			1	2	3	2.021329	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	5	656	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Nonsense_Mutation	SNP	ENST00000419354.1	0	1	hg19	c.370C>T	CCDS43194.1	1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192244	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	.	.	.	5.17	4.2	0.49525	5.17	4.2	0.49525	.	0.370524	0.28214	N	0.016163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.5045	0.75728	0.0:0.0:0.8523:0.1477	.	.	.	.	X	124;124;124;124;124;124;124;124;124;124;28;124;124;124	.	ENSP00000321087:Q124X	Q	-	1	0	0	DLG1	198405806	198405806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.372000	0.59530	2.413000	0.81919	0.655000	0.94253	CAA	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_004087			40	39		232	230	0		1	1		0	0	44	0		1	9.998499e-01	0	7	0	73	0	40	232
BDH1	622	broad.mit.edu	37	3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000392378.2	-	6	803	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000392379.1_Missense_Mutation_p.A165T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	165					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TTCACTTCTGCCACCTGCTTG	0.592																																						ENST00000392378.2	1.000000	0.830000	1	9.900000e-01	0.990000	0.985781	0.990000	1.000000																										0				11						c.(493-495)Gca>Aca		3-hydroxybutyrate dehydrogenase, type 1							155.0	122.0	133.0					3																	197241204		2203	4300	6503	SO:0001583	missense	622	0	0					g.chr3:197241204C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.493G>A	chr3.hg19:g.197241204C>T	ENSP00000376183:p.Ala165Thr	0					BDH1_ENST00000392379.1_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	p.A165T	NM_004051.4	NP_004042.1	1	2	3	2.021329	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	6	803	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	1	1	hg19	c.493G>A	CCDS3328.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541301|4.541301	0.85917|0.85917	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819|ENST00000455876	D;D;D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26|.	5.02|5.02	5.02|5.02	0.67125|0.67125	5.02|5.02	5.02|5.02	0.67125|0.67125	NAD(P)-binding domain (1);|.	0.055371|.	0.64402|.	D|.	0.000001|.	T|.	0.52837|.	0.1759|.	N|N	0.20986|0.20986	0.625|0.625	0.53688|0.53688	D|D	0.999971|0.999971	P|.	0.46859|.	0.885|.	P|.	0.51297|.	0.665|.	T|.	0.48043|.	-0.9069|.	10|.	0.26408|.	T|.	0.33|.	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q02338|.	BDH_HUMAN|.	T|X	165;165;165;78;78;146;165|21	ENSP00000376183:A165T;ENSP00000350914:A165T;ENSP00000376184:A165T;ENSP00000411014:A78T;ENSP00000387648:A78T;ENSP00000408685:A146T;ENSP00000409849:A165T|.	ENSP00000350914:A165T|.	A|W	-|-	1|3	0|0	0|0	BDH1|BDH1	198725601|198725601	198725601|198725601	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	6.096000|6.096000	0.71446|0.71446	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|TGG	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004051			36	36		336	332	0		1	1		0	0	89	0		1	7.514679e-01	0	3	0	24	0	36	336
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000296343.5	-	20	2904	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	MIR922_ENST00000401223.1_RNA|KIAA0226_ENST00000273582.5_Missense_Mutation_p.L924M	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	969					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)				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)		GTGGCCTCCAGGACGGCGGCT	0.677																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2905-2907)Ctg>Atg		KIAA0226																																				SO:0001583	missense	9711	0	0					g.chr3:197401903G>T	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.2905C>A	chr3.hg19:g.197401903G>T	ENSP00000296343:p.Leu969Met	0					KIAA0226_ENST00000273582.5_Missense_Mutation_p.L924M|MIR922_ENST00000401223.1_RNA	p.L969M	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	20	2904	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	1	1	hg19	c.2905C>A	CCDS43195.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.564|8.564	0.878353|0.878353	0.17395|0.17395	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343|ENST00000413360	.|.	.|.	.|.	5.32|5.32	0.165|0.165	0.14995|0.14995	5.32|5.32	0.165|0.165	0.14995|0.14995	.|.	0.577690|.	0.14919|.	N|.	0.290777|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.9999|0.9999	P;P|.	0.45176|.	0.852;0.622|.	P;B|.	0.48400|.	0.576;0.372|.	T|T	0.28038|0.28038	-1.0056|-1.0056	9|5	0.72032|.	D|.	0.01|.	.|.	5.3615|5.3615	0.16091|0.16091	0.3426:0.1396:0.5179:0.0|0.3426:0.1396:0.5179:0.0	.|.	924;969|.	Q92622-2;Q92622|.	.;RUBIC_HUMAN|.	M|H	924;969|930	.|.	ENSP00000273582:L924M|.	L|P	-|-	1|2	2|0	2|0	KIAA0226|KIAA0226	198886300|198886300	198886300|198886300	0.637000|0.637000	0.27216|0.27216	0.071000|0.071000	0.20095|0.20095	0.216000|0.216000	0.24613|0.24613	0.920000|0.920000	0.28705|0.28705	0.032000|0.032000	0.15435|0.15435	0.591000|0.591000	0.81541|0.81541	CTG|CCT	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.334569	1	0.170000	XM_032901			77	77		386	381	1		1	1		0	0	63	0		1	8.839049e-01	0	6	0	15	0	77	386
KIAA0226	9711	broad.mit.edu	37	3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000296343.5	-	16	2427	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R765W	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	810					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)				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)		GGTCTTACCCGGACTTGATTG	0.562																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2428-2430)Cgg>Tgg		KIAA0226							82.0	79.0	80.0					3																	197408002		1990	4175	6165	SO:0001583	missense	9711	21	120932	44				g.chr3:197408002G>A	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.2428C>T	chr3.hg19:g.197408002G>A	ENSP00000296343:p.Arg810Trp	0					KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R765W	p.R810W	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	16	2427	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	1	1	hg19	c.2428C>T	CCDS43195.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998210|1.998210	0.35226|0.35226	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	4.55|4.55	2.71|2.71	0.32032|0.32032	4.55|4.55	2.71|2.71	0.32032|0.32032	.|.	.|0.076684	.|0.53938	.|D	.|0.000042	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.78916|0.78916	2.43|2.43	0.50171|0.50171	D|D	0.999858|0.999858	.|P;B;P	.|0.38677	.|0.642;0.199;0.557	.|B;B;B	.|0.34652	.|0.187;0.072;0.175	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|0.54805	.|T	.|0.06	.|.	8.942|8.942	0.35736|0.35736	0.072:0.0:0.6657:0.2623|0.072:0.0:0.6657:0.2623	.|.	.|835;765;810	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|W	771|765;810;835	.|.	.|ENSP00000273582:R765W	P|R	-|-	2|1	0|2	0|2	KIAA0226|KIAA0226	198892399|198892399	198892399|198892399	0.912000|0.912000	0.30974|0.30974	0.993000|0.993000	0.49108|0.49108	0.602000|0.602000	0.36980|0.36980	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.555000|0.555000	0.69702|0.69702	CCG|CGG	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-3.126400	1	0.170000	XM_032901			63	61		260	255	1		1	1		0	0	78	0		1	9.999750e-01	0	20	0	47	0	63	260
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000296343.5	-	16	2249	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000273582.5_Silent_p.C705C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	750					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.C750*(1)|p.C705*(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)		CATTCTCGTGGCAGCACTGGC	0.527																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.C750*(1)|p.C705*(1)	lung(2)	31						c.(2248-2250)tgC>tgT		KIAA0226							88.0	87.0	87.0					3																	197408180		2004	4190	6194	SO:0001819	synonymous_variant	9711	0	0					g.chr3:197408180G>A	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.2250C>T	chr3.hg19:g.197408180G>A		0					KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000273582.5_Silent_p.C705C	p.C750C	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	16	2249	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Silent	SNP	ENST00000296343.5	1	1	hg19	c.2250C>T	CCDS43195.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.39|10.39	1.337956|1.337956	0.24253|0.24253	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.48|5.48	4.54|4.54	0.55810|0.55810	5.48|5.48	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	-0.5699|-0.5699	4|4	.|.	.|.	.|.	.|.	14.4957|14.4957	0.67685|0.67685	0.0:0.0:0.8529:0.1471|0.0:0.0:0.8529:0.1471	.|.	.|.	.|.	.|.	V|S	534|712	.|.	.|.	A|P	-|-	2|1	0|0	0|0	KIAA0226|KIAA0226	198892577|198892577	198892577|198892577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.022000|4.022000	0.57203|0.57203	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CCA	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	XM_032901			106	106		401	396	1		1	1		0	0	126	0		1	9.972151e-01	0	9	0	27	0	106	401
KIAA0226	9711	broad.mit.edu	37	3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A	rs374416455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000296343.5	-	15	2157	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R675C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	720					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)				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)		CCTGCACAGCGGTAATTCTGC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21470	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998246	0.990000	1.000000																										0				31						c.(2158-2160)Cgc>Tgc		KIAA0226		G	CYS/ARG,CYS/ARG	0,4318		0,0,2159	100.0	112.0	108.0		2023,2158	5.4	1.0	3		108	1,8501		0,1,4250	no	missense,missense	KIAA0226	NM_001145642.2,NM_014687.1	180,180	0,1,6409	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	675/928,720/973	197408739	1,12819	2159	4251	6410	SO:0001583	missense	9711	5	121230	36				g.chr3:197408739G>A	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.2158C>T	chr3.hg19:g.197408739G>A	ENSP00000296343:p.Arg720Cys	0					KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R675C	p.R720C	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	15	2157	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	1	1	hg19	c.2158C>T	CCDS43195.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594923|4.594923	0.86953|0.86953	0.0|0.0	1.18E-4|1.18E-4	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.119767	.|0.64402	.|D	.|0.000019	T|T	0.79293|0.79293	0.4421|0.4421	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.975;0.988	T|T	0.79654|0.79654	-0.1713|-0.1713	5|9	.|0.52906	.|T	.|0.07	.|.	17.798|17.798	0.88579|0.88579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;675;720	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|C	681|675;720;745	.|.	.|ENSP00000273582:R675C	P|R	-|-	2|1	0|0	0|0	KIAA0226|KIAA0226	198893136|198893136	198893136|198893136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.984000|4.984000	0.63838|0.63838	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.774993	1	0.170000	XM_032901			29	29		213	213	1		1	1		0	0	55	0		1	9.824181e-01	0	14	0	36	0	29	213
KIAA0226	9711	broad.mit.edu	37	3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000296343.5	-	4	331	c.332G>T	c.(331-333)aGc>aTc	p.S111I	KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S51I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)				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)		ATCAGCACTGCTCTGGTCGTT	0.587																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(331-333)aGc>aTc		KIAA0226							54.0	56.0	55.0					3																	197431544		2120	4253	6373	SO:0001583	missense	9711	0	0					g.chr3:197431544C>A	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.332G>T	chr3.hg19:g.197431544C>A	ENSP00000296343:p.Ser111Ile	0					KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S51I	p.S111I	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	4	331	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	1	1	hg19	c.332G>T	CCDS43195.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857056|1.857056	0.32791|0.32791	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.95|5.95	1.15|1.15	0.20763|0.20763	5.95|5.95	1.15|1.15	0.20763|0.20763	.|RUN (2);	.|0.970843	.|0.08567	.|N	.|0.926613	T|T	0.30541|0.30541	0.0768|0.0768	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.55800	.|0.973;0.941;0.973	.|P;P;P	.|0.57846	.|0.828;0.735;0.828	T|T	0.28138|0.28138	-1.0053|-1.0053	5|10	.|0.52906	.|T	.|0.07	.|.	7.7581|7.7581	0.28936|0.28936	0.0:0.5565:0.2097:0.2338|0.0:0.5565:0.2097:0.2338	.|.	.|111;51;111	.|E9PEM3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	D|I	89|51;111;111;111	.|ENSP00000273582:S51I;ENSP00000296343:S111I;ENSP00000374316:S111I;ENSP00000390962:S111I	.|ENSP00000273582:S51I	E|S	-|-	3|2	2|0	2|0	KIAA0226|KIAA0226	198915941|198915941	198915941|198915941	0.021000|0.021000	0.18746|0.18746	0.375000|0.375000	0.26029|0.26029	0.243000|0.243000	0.25628|0.25628	0.065000|0.065000	0.14466|0.14466	0.276000|0.276000	0.22118|0.22118	-0.189000|-0.189000	0.12847|0.12847	GAG|AGC	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	XM_032901			44	44		232	227	1		1	1		0	0	53	0		1	9.534198e-01	0	3	0	25	0	44	232
KIAA0226	9711	broad.mit.edu	37	3	197431564	197431564	+	Silent	SNP	G	G	A	rs557932058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000296343.5	-	4	311	c.312C>T	c.(310-312)agC>agT	p.S104S	KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000273582.5_Silent_p.S44S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	104	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)				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)		TCTCGTGCACGCTGATGAACT	0.542													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000296343.5	1.000000	0.440000	1	6.000000e-01	0.790000	0.793794	0.790000	1.000000																										0				31						c.(310-312)agC>agT		KIAA0226							47.0	47.0	47.0					3																	197431564		2109	4250	6359	SO:0001819	synonymous_variant	9711	2	121110	31				g.chr3:197431564G>A	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.312C>T	chr3.hg19:g.197431564G>A		0					KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000273582.5_Silent_p.S44S	p.S104S	NM_014687.1	NP_055502.1	1	2	3	2.021329	Q92622	RUBIC_HUMAN	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)	4	311	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q96CK5	Silent	SNP	ENST00000296343.5	1	1	hg19	c.312C>T	CCDS43195.1	0	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332689	0.05314	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	4.75	0.60458	5.84	4.75	0.60458	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	.	12.2711	0.54706	0.1033:0.0:0.8967:0.0	.	.	.	.	C	83	.	.	R	-	1	0	0	KIAA0226	198915961	198915961	1.000000	0.71417	0.480000	0.27341	0.202000	0.24057	3.885000	0.56182	1.123000	0.41961	0.643000	0.83706	CGT	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-5.819751	1	0.170000	XM_032901			14	14		207	205	0		1	0		0	0	41	0		9.997692e-01	7.779167e-01	0	1	0	43	0	14	207
LRCH3	84859	broad.mit.edu	37	3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000425562.2	+	2	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	91						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		AGACCTGTCGCGAAATCGCCT	0.299																																						ENST00000425562.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(271-273)Cga>Tga		leucine-rich repeats and calponin homology (CH) domain containing 3							39.0	42.0	41.0					3																	197541787		2200	4296	6496	SO:0001587	stop_gained	84859	0	0					g.chr3:197541787C>T	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.271C>T	chr3.hg19:g.197541787C>T	ENSP00000393579:p.Arg91*	0					LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron	p.R91*			1	2	3	2.021329	Q96II8	LRCH3_HUMAN	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)	2	271	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	0	1	hg19	c.271C>T		1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012238	0.93346	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	3.73	0.42828	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1685	13.5675	0.61826	0.4031:0.5969:0.0:0.0	.	.	.	.	X	91	.	ENSP00000334375:R91X	R	+	1	2	2	LRCH3	199026184	199026184	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.360000	0.45960	0.650000	0.86243	CGA	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_032773			41	40		161	161	1		1	1		0	0	35	0		1	9.988867e-01	0	9	0	35	0	41	161
LRCH3	84859	broad.mit.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000425562.2	+	10	1273	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		AAAGCCAGTAGCCATTAGGGA	0.333																																						ENST00000425562.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				29						c.(1273-1275)Gcc>Acc		leucine-rich repeats and calponin homology (CH) domain containing 3							52.0	53.0	53.0					3																	197566213		2203	4298	6501	SO:0001583	missense	84859	0	0					g.chr3:197566213G>A	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.1273G>A	chr3.hg19:g.197566213G>A	ENSP00000393579:p.Ala425Thr	0					LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T	p.A425T			1	2	3	2.021329	Q96II8	LRCH3_HUMAN	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)	10	1273	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	1	1	hg19	c.1273G>A		1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	0	LRCH3	199050610	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_032773			33	33		153	151	1		1	1		0	0	39	0		1	9.960415e-01	0	8	0	35	0	33	153
IQCG	84223	broad.mit.edu	37	3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	rs139671579	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000453254.1_Missense_Mutation_p.R138W|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428													G|||	4	0.000798722	0.0	0.0	5008	,	,		17292	0.0		0.001	False		,,,				2504	0.0031					ENST00000265239.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(412-414)Cgg>Tgg		IQ motif containing G		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	270.0	273.0	272.0		412,412	4.3	0.1	3	dbSNP_134	272	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging,possibly-damaging	138/444,138/444	197665522	10,12996	2203	4300	6503	SO:0001583	missense	84223	145	121412	58				g.chr3:197665522G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.412C>T	chr3.hg19:g.197665522G>A	ENSP00000265239:p.Arg138Trp	0					IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	p.R138W	NM_032263.3	NP_115639.1	1	2	3	2.021329	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	5	836	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	1	1	hg19	c.412C>T	CCDS3331.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.15	2.749213	0.49257	0.0	0.001163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.9;0.9;0.99;0.9	4.32	4.32	0.51571	4.32	4.32	0.51571	.	1.640010	0.03032	N	0.152233	T	0.33381	0.0861	N	0.08118	0	0.09310	N	1	D;P	0.62365	0.991;0.914	P;B	0.46975	0.533;0.431	T	0.37979	-0.9682	10	0.72032	D	0.01	-10.3603	9.0042	0.36102	0.1056:0.0:0.8944:0.0	.	138;138	C9JKX8;Q9H095	.;IQCG_HUMAN	W	138;138;138;119	ENSP00000265239:R138W;ENSP00000407736:R138W;ENSP00000389897:R138W;ENSP00000406411:R119W	ENSP00000265239:R138W	R	-	1	2	2	IQCG	199149919	199149919	0.052000	0.20516	0.060000	0.19600	0.004000	0.04260	2.450000	0.44943	2.345000	0.79718	0.558000	0.71614	CGG	1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	0	0	0		19	2	2	0		0	1	314		314	311	1	2.060000	-5.526276	1	0.170000	NM_032263			288	281		1392	1359	1		1	1		0	0	314	0		1	9.961409e-01	0	7	0	35	0	288	1392
CHL1	10752	broad.mit.edu	37	3	407729	407729	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.K545R	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)			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)		TCACATTTGAAACACAGTTTG	0.358																																						ENST00000256509.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(1681-1683)aAa>aGa		cell adhesion molecule L1-like							120.0	115.0	117.0					3																	407729		2203	4300	6503	SO:0001583	missense	10752	0	0					g.chr3:407729A>G	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.1682A>G	chr3.hg19:g.407729A>G	ENSP00000256509:p.Lys561Arg	0					CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.K545R	p.K561R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	1	2	3	1.998468	Q96FC9	DDX11_HUMAN		15	2324	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	1	1	hg19	c.1682A>G	CCDS2556.1	1	.	.	.	.	.	.	.	.	.	.	A	4.950	0.176486	0.09443	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12147	2.71;2.71	5.18	2.79	0.32731	5.18	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267819	0.42821	N	0.000646	T	0.10035	0.0246	L	0.36672	1.1	0.29378	N	0.863517	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.11329	0.006;0.006;0.003	T	0.20571	-1.0271	10	0.25751	T	0.34	.	8.0794	0.30735	0.8376:0.0:0.1624:0.0	.	545;545;561	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	561;545	ENSP00000256509:K561R;ENSP00000380628:K545R	ENSP00000256509:K561R	K	+	2	0	0	CHL1	382729	382729	0.796000	0.28864	0.018000	0.16275	0.433000	0.31745	1.362000	0.34148	0.383000	0.24910	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_006614			73	72		289	282	1		1			0	0	65	0		1	0	0	0	0	0	0	73	289
CHL1	10752	broad.mit.edu	37	3	433368	433368	+	Silent	SNP	G	G	A	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	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)			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)		TACCTGAACAGCCAACTTTTC	0.299																																						ENST00000256509.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2800-2802)caG>caA		cell adhesion molecule L1-like		G		1,4405	2.1+/-5.4	0,1,2202	85.0	86.0	85.0		2802	-0.6	1.0	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous	CHL1	NM_006614.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		934/1225	433368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10752	0	0					g.chr3:433368G>A	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.2802G>A	chr3.hg19:g.433368G>A		0					CHL1_ENST00000397491.2_Silent_p.Q918Q	p.Q934Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	1	2	3	1.998468	Q96FC9	DDX11_HUMAN		23	3444	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	1	1	hg19	c.2802G>A	CCDS2556.1	1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743787	0.15642	2.27E-4	0.0	ENSG00000134121	ENST00000445697	.	.	.	5.62	-0.555	0.11807	5.62	-0.555	0.11807	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54323	-0.8311	4	.	.	.	.	10.9911	0.47549	0.5608:0.0:0.4392:0.0	.	.	.	.	N	121	.	.	S	+	2	0	0	CHL1	408368	408368	0.001000	0.12720	0.997000	0.53966	0.992000	0.81027	-1.298000	0.02756	0.033000	0.15463	0.650000	0.86243	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_006614			59	57		329	327	1		1	0		0	0	64	0		1	2.400157e-02	0	0	0	2	0	59	329
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				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)				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)		CAGGATAATCGCCGCTTTGTT	0.388																																						ENST00000397461.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(505-507)cGc>cAc		contactin 4							139.0	128.0	131.0					3																	2908487		1830	4084	5914	SO:0001583	missense	152330	1	120800	37				g.chr3:2908487G>A	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.506G>A	chr3.hg19:g.2908487G>A	ENSP00000380602:p.Arg169His	0					CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR	p.R169H	NM_001206955.1	NP_001193884.1	1	2	3	1.998468	Q8IWV2	CNTN4_HUMAN		7	890	+		Ovarian(110;0.156)	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	1	1	hg19	c.506G>A	CCDS43041.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	0	CNTN4	2883487	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000				99	100		576	573	1		1	0		0	0	114	0		1	1.070827e-01	0	0	0	4	0	99	576
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				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)		CCAATAGCAAGGAAAGCCAGA	0.408																																						ENST00000397461.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(805-807)aGg>aTg		contactin 4							90.0	83.0	85.0					3																	2928774		1851	4106	5957	SO:0001583	missense	152330	0	0					g.chr3:2928774G>T	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.806G>T	chr3.hg19:g.2928774G>T	ENSP00000380602:p.Arg269Met	0					CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M	p.R269M	NM_001206955.1	NP_001193884.1	1	2	3	1.998468	Q8IWV2	CNTN4_HUMAN		9	1190	+		Ovarian(110;0.156)	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	1	1	hg19	c.806G>T	CCDS43041.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511723	0.64522	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	3.69	0.42338	5.73	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060671	0.64402	D	0.000008	T	0.48750	0.1517	N	0.13198	0.31	0.80722	D	1	P;P	0.49862	0.785;0.929	P;P	0.44518	0.452;0.452	T	0.46373	-0.9196	10	0.51188	T	0.08	.	7.155	0.25632	0.1744:0.1352:0.6904:0.0	.	269;269	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	269;269;269;50	ENSP00000396010:R269M;ENSP00000380602:R269M;ENSP00000413642:R269M;ENSP00000351267:R50M	ENSP00000351267:R50M	R	+	2	0	0	CNTN4	2903774	2903774	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	4.415000	0.59809	0.569000	0.29329	0.650000	0.86243	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				40	40		175	174	1		1	0		0	0	42	0		1	2.413449e-01	0	0	0	5	0	40	175
CNTN4	152330	broad.mit.edu	37	3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	514	Ig-like C2-type 6.				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)				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)		GTTGGAGAGAGTATTGTTTTA	0.428																																						ENST00000397461.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1540-1542)aGt>aAt		contactin 4							192.0	162.0	172.0					3																	3067840		2203	4300	6503	SO:0001583	missense	152330	0	0					g.chr3:3067840G>A	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.1541G>A	chr3.hg19:g.3067840G>A	ENSP00000380602:p.Ser514Asn	0					CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N	p.S514N	NM_001206955.1	NP_001193884.1	1	2	3	1.998468	Q8IWV2	CNTN4_HUMAN		14	1925	+		Ovarian(110;0.156)	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	1	1	hg19	c.1541G>A	CCDS43041.1	1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819485	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.99	4.99	0.66335	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.64260	1.97	0.80722	D	1	P;D;D	0.76494	0.918;0.996;0.999	P;D;D	0.77557	0.835;0.977;0.99	T	0.03287	-1.1052	10	0.18276	T	0.48	.	18.2793	0.90092	0.0:0.0:1.0:0.0	.	514;514;514	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	N	514;514;514;295;186;186	ENSP00000396010:S514N;ENSP00000380602:S514N;ENSP00000413642:S514N;ENSP00000351267:S295N;ENSP00000380600:S186N;ENSP00000392077:S186N	ENSP00000351267:S295N	S	+	2	0	0	CNTN4	3042840	3042840	1.000000	0.71417	0.981000	0.43875	0.155000	0.21991	9.247000	0.95444	2.301000	0.77427	0.561000	0.74099	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000				44	44		190	188	1		1	0		0	0	70	0		1	3.700923e-02	0	0	0	2	0	44	190
CRBN	51185	broad.mit.edu	37	3	3215924	3215924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3215924C>A	ENST00000231948.4	-	3	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	66					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)			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)	CCATGAAATTCTTCCATATCA	0.388																																						ENST00000231948.4	1.000000	0.100000	4.100000e-01	1.700000e-01	0.260000	0.316665	0.260000	0.230000																										0				11						c.(196-198)Gaa>Taa		cereblon	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)						62.0	61.0	62.0					3																	3215924		2203	4300	6503	SO:0001587	stop_gained	51185	0	0					g.chr3:3215924C>A	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.196G>T	chr3.hg19:g.3215924C>A	ENSP00000231948:p.Glu66*	0					CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	p.E66*	NM_016302.3	NP_057386.2	1	2	3	1.998468	Q96SW2	CRBN_HUMAN		3	218	-			B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Nonsense_Mutation	SNP	ENST00000231948.4	0	1	hg19	c.196G>T	CCDS2562.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.419329|6.419329	0.97550|0.97550	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	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	.|0.77933	.|-0.2402	.|3	0.44086|.	T|.	0.13|.	-28.1735|-28.1735	19.7106|19.7106	0.96095|0.96095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	66;65;3|61	.|.	ENSP00000231948:E66X|.	E|K	-|-	1|3	0|2	0|2	CRBN|CRBN	3190924|3190924	3190924|3190924	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.982000|0.982000	0.71751|0.71751	7.638000|7.638000	0.83328|0.83328	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GAA|AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	0	0	0		2	2	2	0		0	0	56		56	54	1	2.060000	-6.697918	1	0.170000	NM_016302			6	6		287	280	0		1	1		0	0	56	0		9.627103e-01	7.809404e-01	0	2	0	135	0	6	287
LRRN1	57633	broad.mit.edu	37	3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	605	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				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)		CATCAGCAGACTCAAAAGTCA	0.478																																						ENST00000319331.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1813-1815)aCt>aTt		leucine rich repeat neuronal 1							170.0	165.0	166.0					3																	3888139		2203	4300	6503	SO:0001583	missense	57633	0	0					g.chr3:3888139C>T	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.1814C>T	chr3.hg19:g.3888139C>T	ENSP00000314901:p.Thr605Ile	0					SUMF1_ENST00000534863.1_Intron	p.T605I	NM_020873.5	NP_065924.3	1	2	3	1.998468	Q6UXK5	LRRN1_HUMAN		2	2575	+			Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	1	1	hg19	c.1814C>T	CCDS33685.1	1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881468	0.51801	.	.	ENSG00000175928	ENST00000319331	T	0.49432	0.78	5.5	5.5	0.81552	5.5	5.5	0.81552	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152121	0.64402	D	0.000014	T	0.39733	0.1089	L	0.38838	1.175	0.58432	D	0.999998	P	0.37122	0.583	B	0.30646	0.118	T	0.24297	-1.0164	10	0.38643	T	0.18	.	19.7663	0.96342	0.0:1.0:0.0:0.0	.	605	Q6UXK5	LRRN1_HUMAN	I	605	ENSP00000314901:T605I	ENSP00000314901:T605I	T	+	2	0	0	LRRN1	3863139	3863139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.741000	0.93983	0.650000	0.86243	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	1	0	1		2	2	2	0		0	0	146		146	144	1	2.060000	-20.000000	1	0.170000	NM_020873			142	142		593	582	1		1	0		0	0	146	0		1	4.064840e-01	0	0	0	7	0	142	593
ITPR1	3708	broad.mit.edu	37	3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000443694.2	+	5	487	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	163	MIR 1. {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)			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)	CTGGTTTTATATTCAGCCATT	0.458																																						ENST00000443694.2	1.000000	0.570000	1	7.400000e-01	0.970000	0.900856	0.970000	1.000000																										0				106						c.(487-489)Att>Ctt		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						97.0	99.0	98.0					3																	4683897		1992	4172	6164	SO:0001583	missense	3708	0	0					g.chr3:4683897A>C	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.487A>C	chr3.hg19:g.4683897A>C	ENSP00000401671:p.Ile163Leu	0					ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L	p.I163L			1	2	3	1.998468	Q14643	ITPR1_HUMAN		5	487	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.487A>C	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.262091	0.59431	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	5.28	5.28	0.74379	5.28	5.28	0.74379	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.88842	2.985	0.40237	D	0.977915	B;B;P;B;B	0.41159	0.066;0.016;0.74;0.008;0.011	B;B;D;B;B	0.69824	0.263;0.419;0.966;0.325;0.192	D	0.98681	1.0692	10	0.62326	D	0.03	.	15.2445	0.73497	1.0:0.0:0.0:0.0	.	163;163;163;163;163	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	L	163	ENSP00000306253:I163L;ENSP00000346595:I163L;ENSP00000405934:I163L;ENSP00000349597:I163L;ENSP00000397885:I163L;ENSP00000440564:I163L;ENSP00000401671:I163L	ENSP00000306253:I163L	I	+	1	0	0	ITPR1	4658897	4658897	1.000000	0.71417	0.818000	0.32626	0.387000	0.30353	7.423000	0.80229	1.997000	0.58415	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0		2	2	2	0		0	0	29		29	28	1	2.060000	-19.923800	1	0.170000	NM_002222			15	15		172	170	0		1	0		0	0	29	0		9.998842e-01	5.989366e-01	0	1	0	23	0	15	172
ITPR1	3708	broad.mit.edu	37	3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000443694.2	+	5	504	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	168					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CATTCTACAAGCTGCGATCCA	0.468																																						ENST00000443694.2	1.000000	0.700000	1	9.000000e-01	0.990000	0.963718	0.990000	1.000000																										0				106						c.(502-504)aaG>aaT		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						91.0	93.0	92.0					3																	4683914		2007	4173	6180	SO:0001583	missense	3708	0	0					g.chr3:4683914G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.504G>T	chr3.hg19:g.4683914G>T	ENSP00000401671:p.Lys168Asn	0					ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N	p.K168N			1	2	3	1.998468	Q14643	ITPR1_HUMAN		5	504	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.504G>T	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299581	0.60195	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.28	3.48	0.39840	5.28	3.48	0.39840	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93854	3.465	0.37152	D	0.902198	D;P;D;P;P	0.89917	0.977;0.91;1.0;0.885;0.86	D;P;D;P;P	0.97110	0.993;0.795;1.0;0.638;0.505	D	0.99905	1.1178	10	0.87932	D	0	.	9.6978	0.40167	0.2638:0.0:0.7362:0.0	.	168;168;168;168;168	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	N	168	ENSP00000306253:K168N;ENSP00000346595:K168N;ENSP00000405934:K168N;ENSP00000349597:K168N;ENSP00000397885:K168N;ENSP00000440564:K168N;ENSP00000401671:K168N	ENSP00000306253:K168N	K	+	3	2	2	ITPR1	4658914	4658914	0.993000	0.37304	1.000000	0.80357	0.590000	0.36582	0.318000	0.19504	1.223000	0.43536	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0		2	2	2	0		0	0	27		27	26	1	2.060000	-19.999940	1	0.170000	NM_002222			17	16		160	157	0		1	1		0	0	27	0		9.999674e-01	6.703898e-01	0	2	0	21	0	17	160
ITPR1	3708	broad.mit.edu	37	3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000443694.2	+	34	4733	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1593				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCCCGCAATGCCGCACGCAGG	0.527																																						ENST00000443694.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999920	0.990000	1.000000																										0				106						c.(4732-4734)gCc>gTc		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						49.0	52.0	51.0					3																	4747971		2032	4183	6215	SO:0001583	missense	3708	0	0					g.chr3:4747971C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4733C>T	chr3.hg19:g.4747971C>T	ENSP00000401671:p.Ala1578Val	0					ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000544951.1_Intron	p.A1578V			1	2	3	1.998468	Q14643	ITPR1_HUMAN		34	4733	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.4733C>T	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868283	0.51588	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.108661	0.64402	D	0.000005	T	0.57475	0.2056	L	0.40543	1.245	0.80722	D	1	B;B	0.25390	0.005;0.125	B;B	0.32624	0.003;0.149	T	0.51826	-0.8656	10	0.14252	T	0.57	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	1593;1584	Q14643;G5E9P1	ITPR1_HUMAN;.	V	1593;1578;1593;1584;39;1584;1569;1578	ENSP00000306253:A1578V;ENSP00000346595:A1593V;ENSP00000405934:A1584V;ENSP00000349597:A1584V;ENSP00000397885:A1569V;ENSP00000401671:A1578V	ENSP00000306253:A1578V	A	+	2	0	0	ITPR1	4722971	4722971	1.000000	0.71417	0.864000	0.33941	0.356000	0.29392	5.835000	0.69368	2.609000	0.88269	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_002222			32	32		188	185	1		1	1		0	0	39	0		1	9.812681e-01	0	2	0	38	0	32	188
ITPR1	3708	broad.mit.edu	37	3	4836804	4836804	+	Silent	SNP	G	G	A	rs370852124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000443694.2	+	50	6819	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000456211.2_Silent_p.S2225S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAGCATTTCGTTTAACCTGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17011	0.0		0.0	False		,,,				2504	0.0					ENST00000443694.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				106						c.(6817-6819)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)	G	,,	1,4107		0,1,2053	127.0	124.0	125.0		6720,6819,6675	-5.7	0.0	3		125	0,8402		0,0,4201	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6254	AA,AG,GG		0.0,0.0243,0.0080	,,	2240/2711,2273/2744,2225/2696	4836804	1,12509	2054	4201	6255	SO:0001819	synonymous_variant	3708	4	121042	31				g.chr3:4836804G>A	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.6819G>A	chr3.hg19:g.4836804G>A		0					ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000544951.1_Intron	p.S2273S			1	2	3	1.998468	Q14643	ITPR1_HUMAN		50	6819	+			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	1	1	hg19	c.6819G>A	CCDS54551.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_002222			28	28		110	109	0		1	1		0	0	24	0		1	9.999805e-01	0	6	0	67	0	28	110
ITPR1	3708	broad.mit.edu	37	3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000443694.2	+	52	7141	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2396					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCCATGGTTCTGGATGTTGA	0.453																																						ENST00000443694.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(7141-7143)Ctg>Atg		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						149.0	142.0	144.0					3																	4847865		1951	4154	6105	SO:0001583	missense	3708	0	0					g.chr3:4847865C>A	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.7141C>A	chr3.hg19:g.4847865C>A	ENSP00000401671:p.Leu2381Met	0					ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M	p.L2381M			1	2	3	1.998468	Q14643	ITPR1_HUMAN		52	7141	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.7141C>A	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394562	0.04899	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97430	-2.77;-2.77;-2.77;-2.77;-2.77;-4.38;-2.77	5.07	4.2	0.49525	5.07	4.2	0.49525	Ion transport (1);	0.176545	0.46442	D	0.000284	D	0.89522	0.6739	N	0.01267	-0.92	0.33300	D	0.564656	B;B;B	0.24963	0.115;0.001;0.002	B;B;B	0.37989	0.262;0.006;0.004	D	0.87271	0.2286	10	0.29301	T	0.29	.	6.6622	0.23020	0.155:0.6874:0.0:0.1575	.	359;2396;2348	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	2396;2381;2381;2348;842;2348;2333;359;2381	ENSP00000306253:L2381M;ENSP00000346595:L2381M;ENSP00000405934:L2348M;ENSP00000349597:L2348M;ENSP00000397885:L2333M;ENSP00000440564:L359M;ENSP00000401671:L2381M	ENSP00000306253:L2381M	L	+	1	2	2	ITPR1	4822865	4822865	0.445000	0.25657	0.981000	0.43875	0.971000	0.66376	0.973000	0.29422	1.273000	0.44346	-0.218000	0.12543	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_002222			61	61		215	210	1		1	1		0	0	37	0		1	9.999895e-01	0	4	0	59	0	61	215
ITPR1	3708	broad.mit.edu	37	3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000443694.2	+	53	7256	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2434					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGAGAAGAGACTTTGCTTAAT	0.388																																						ENST00000443694.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				106						c.(7255-7257)aCt>aTt		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						98.0	91.0	93.0					3																	4852977		1901	4135	6036	SO:0001583	missense	3708	0	0					g.chr3:4852977C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7256C>T	chr3.hg19:g.4852977C>T	ENSP00000401671:p.Thr2419Ile	0					ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I	p.T2419I			1	2	3	1.998468	Q14643	ITPR1_HUMAN		53	7256	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.7256C>T	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003787	0.93287	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.38	5.38	0.77491	5.38	5.38	0.77491	Ion transport (1);	0.099034	0.64402	D	0.000001	D	0.99165	0.9711	M	0.82630	2.6	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	D	0.99601	1.0978	10	0.51188	T	0.08	.	19.12	0.93358	0.0:1.0:0.0:0.0	.	397;2434;2386	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2434;2419;2419;2386;880;2386;2371;397;2419	ENSP00000306253:T2419I;ENSP00000346595:T2419I;ENSP00000405934:T2386I;ENSP00000349597:T2386I;ENSP00000397885:T2371I;ENSP00000440564:T397I;ENSP00000401671:T2419I	ENSP00000306253:T2419I	T	+	2	0	0	ITPR1	4827977	4827977	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.724000	0.84798	2.509000	0.84616	0.563000	0.77884	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_002222			30	30		136	133	1		1	1		0	0	25	0		1	9.982063e-01	0	3	0	45	0	30	136
ITPR1	3708	broad.mit.edu	37	3	4856239	4856239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4856239C>T	ENST00000443694.2	+	55	7649	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2565					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGGAAGCCGTCCAAAGAGGTA	0.567																																						ENST00000443694.2	1.000000	0.130000	5.000000e-01	2.100000e-01	0.330000	0.377877	0.330000	0.300000																										0				106						c.(7648-7650)tCc>tTc		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						49.0	51.0	50.0					3																	4856239		1974	4134	6108	SO:0001583	missense	3708	0	0					g.chr3:4856239C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7649C>T	chr3.hg19:g.4856239C>T	ENSP00000401671:p.Ser2550Phe	0					ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|AC018816.3_ENST00000449914.1_Intron	p.S2550F			1	2	3	1.998468	Q14643	ITPR1_HUMAN		55	7649	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	0	1	hg19	c.7649C>T	CCDS54551.1	0	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921796	0.92319	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97831	-2.97;-2.98;-2.97;-2.97;-2.97;-4.56;-2.97	4.93	4.93	0.64822	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.996;1.0;0.968	D	0.99858	1.1079	10	0.87932	D	0	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	528;2565;2517	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	F	2565;2550;2550;2517;1011;2517;2502;528;2550	ENSP00000306253:S2550F;ENSP00000346595:S2550F;ENSP00000405934:S2517F;ENSP00000349597:S2517F;ENSP00000397885:S2502F;ENSP00000440564:S528F;ENSP00000401671:S2550F	ENSP00000306253:S2550F	S	+	2	0	0	ITPR1	4831239	4831239	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-7.577315	1	0.170000	NM_002222			6	6		230	226	0		1	0		0	0	47	0		9.636588e-01	5.354728e-01	0	0	0	64	0	6	230
BHLHE40	8553	broad.mit.edu	37	3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	410					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468																																						ENST00000256495.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1228-1230)aCc>aTc		basic helix-loop-helix family, member e40							79.0	90.0	87.0					3																	5025367		2203	4300	6503	SO:0001583	missense	8553	0	0					g.chr3:5025367C>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1229C>T	chr3.hg19:g.5025367C>T	ENSP00000256495:p.Thr410Ile	0						p.T410I	NM_003670.2	NP_003661.1	1	2	3	1.998468	O14503	BHE40_HUMAN		5	1832	+			Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	1	1	hg19	c.1229C>T	CCDS2565.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800971	0.90538	.	.	ENSG00000134107	ENST00000256495	T	0.49432	0.78	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.097328	0.64402	D	0.000001	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.48840	0.592	T	0.61926	-0.6962	10	0.72032	D	0.01	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	410	O14503	BHE40_HUMAN	I	410	ENSP00000256495:T410I	ENSP00000256495:T410I	T	+	2	0	0	BHLHE40	5000367	5000367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.589000	0.87451	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_003670			109	100		504	478	1		1	1		0	0	132	0		1	1	0	187	0	593	0	109	504
EDEM1	9695	broad.mit.edu	37	3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	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)|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)			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)		CTAGTGCAATCGTGTACCTGA	0.443																																						ENST00000256497.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1891-1893)Cgt>Tgt		ER degradation enhancer, mannosidase alpha-like 1							190.0	157.0	168.0					3																	5257520		2203	4300	6503	SO:0001583	missense	9695	1	121412	33				g.chr3:5257520C>T	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.1891C>T	chr3.hg19:g.5257520C>T	ENSP00000256497:p.Arg631Cys	0						p.R631C	NM_014674.2	NP_055489.1	1	2	3	1.998468	Q92611	EDEM1_HUMAN		12	2024	+			A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	1	1	hg19	c.1891C>T	CCDS33686.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805026	0.70682	.	.	ENSG00000134109	ENST00000256497	D	0.83755	-1.76	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.097082	0.64402	D	0.000002	T	0.80649	0.4663	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.83158	-0.0100	10	0.66056	D	0.02	-13.5861	12.0944	0.53747	0.2923:0.7077:0.0:0.0	.	631	Q92611	EDEM1_HUMAN	C	631	ENSP00000256497:R631C	ENSP00000256497:R631C	R	+	1	0	0	EDEM1	5232520	5232520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.814000	0.48010	2.449000	0.82847	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_014674			66	65		298	294	1		1	1		0	0	75	0		1	1	0	22	0	134	0	66	298
GRM7	2917	broad.mit.edu	37	3	6903264	6903264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000357716.4	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000486284.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					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)			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						AGGGTCCCAGCGGAGTGCCCT	0.662																																						ENST00000357716.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.992535	0.990000	1.000000																										0				76						c.(187-189)agC>agT		glutamate receptor, metabotropic 7							21.0	22.0	21.0					3																	6903264		2201	4298	6499	SO:0001819	synonymous_variant	2917	0	0					g.chr3:6903264C>T	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.189C>T	chr3.hg19:g.6903264C>T		0					GRM7_ENST00000486284.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S	p.S63S	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		1	463	+			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	0	1	hg19	c.189C>T	CCDS43042.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-19.814970	1	0.170000	NM_000844			12	12		78	77	1		1			0	0	20	0		9.992916e-01	0	0	0	0	0	0	12	78
GRM7	2917	broad.mit.edu	37	3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000357716.4	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000486284.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	85					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)			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						GATGCTCTACGCCCTGGACCA	0.632																																						ENST00000357716.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.996150	0.990000	1.000000																										0				76						c.(253-255)Gcc>Acc		glutamate receptor, metabotropic 7							40.0	35.0	37.0					3																	6903328		2203	4300	6503	SO:0001583	missense	2917	0	0					g.chr3:6903328G>A	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.253G>A	chr3.hg19:g.6903328G>A	ENSP00000350348:p.Ala85Thr	0					GRM7_ENST00000486284.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T	p.A85T	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		1	527	+			Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	1	1	hg19	c.253G>A	CCDS43042.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740907	0.89573	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.27	5.27	0.74061	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95487	0.8534	L	0.56340	1.77	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.85	D;D;B	0.80764	0.99;0.994;0.343	D	0.94407	0.7628	10	0.33141	T	0.24	.	17.462	0.87622	0.0:0.0:1.0:0.0	.	85;85;85	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	85	ENSP00000350348:A85T;ENSP00000417536:A85T;ENSP00000373987:A85T;ENSP00000385664:A85T;ENSP00000384585:A85T	ENSP00000350348:A85T	A	+	1	0	0	GRM7	6878328	6878328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.649000	0.98487	2.448000	0.82819	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_000844			17	17		114	114	1		1			0	0	32	0		9.999766e-01	0	0	0	0	0	0	17	114
GRM7	2917	broad.mit.edu	37	3	6903438	6903438	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000357716.4	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000486284.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	121					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)			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						AGTCGCTTACTTTCGTCCAGG	0.582																																						ENST00000357716.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(361-363)acT>acG		glutamate receptor, metabotropic 7							70.0	66.0	68.0					3																	6903438		2203	4300	6503	SO:0001819	synonymous_variant	2917	0	0					g.chr3:6903438T>G	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.363T>G	chr3.hg19:g.6903438T>G		0					GRM7_ENST00000486284.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T	p.T121T	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		1	637	+			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	1	1	hg19	c.363T>G	CCDS43042.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_000844			62	62		242	239	1		1			0	0	59	0		1	0	0	0	0	0	0	62	242
GRM7	2917	broad.mit.edu	37	3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000357716.4	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000486284.1_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	623					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)			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						CATTGTCCGGGCATCTGGGCG	0.502																																						ENST00000357716.4	1.000000	0.820000	1	9.300000e-01	0.990000	0.976873	0.990000	1.000000																										0				76						c.(1867-1869)Gca>Tca		glutamate receptor, metabotropic 7							121.0	125.0	124.0					3																	7620460		2203	4300	6503	SO:0001583	missense	2917	0	0					g.chr3:7620460G>T	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.1867G>T	chr3.hg19:g.7620460G>T	ENSP00000350348:p.Ala623Ser	0					GRM7_ENST00000486284.1_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S	p.A623S	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		8	2141	+			Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	1	1	hg19	c.1867G>T	CCDS43042.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076362	0.76415	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.93	5.93	0.95920	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.99;0.999;0.992;1.0	D;D;D;D;D	0.97110	0.992;0.98;0.996;0.989;1.0	D	0.93418	0.6774	10	0.46703	T	0.11	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	623;623;378;623;623	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	S	623	ENSP00000350348:A623S;ENSP00000417536:A623S;ENSP00000373987:A623S;ENSP00000385664:A623S;ENSP00000384585:A623S	ENSP00000350348:A623S	A	+	1	0	0	GRM7	7595460	7595460	1.000000	0.71417	0.988000	0.46212	0.462000	0.32619	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1		17	2	2	0		0	1	152		152	150	1	2.060000	-17.161670	1	0.170000	NM_000844			66	64		676	664	0		1			0	0	152	0		1	0	0	0	0	0	0	66	676
GRM7	2917	broad.mit.edu	37	3	7620618	7620618	+	Silent	SNP	G	G	A	rs267599934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000357716.4	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000486284.1_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					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)			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						CCCTCTTGACGAAAACAAATC	0.458																																						ENST00000357716.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.990932	0.990000	1.000000																										0				76						c.(2023-2025)acG>acA		glutamate receptor, metabotropic 7		G	,	0,4406		0,0,2203	100.0	90.0	93.0		2025,2025	-12.3	0.7	3		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	675/916,675/923	7620618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2917	0	0					g.chr3:7620618G>A	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.2025G>A	chr3.hg19:g.7620618G>A		0					GRM7_ENST00000486284.1_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T	p.T675T	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		8	2299	+			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	1	1	hg19	c.2025G>A	CCDS43042.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	0	0	0		17	2	2	1		1	1	71		71	70	1	2.060000	-13.050630	1	0.170000	NM_000844			36	36		317	310	0		1			1	0	71	0		9.972748e-01	0	0	0	0	0	0	36	317
GRM7	2917	broad.mit.edu	37	3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000357716.4	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000486284.1_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	693					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)			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						ATCAGTAACAGCTCCCAGACT	0.438																																						ENST00000357716.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2077-2079)Gct>Act		glutamate receptor, metabotropic 7							114.0	99.0	104.0					3																	7620670		2203	4300	6503	SO:0001583	missense	2917	0	0					g.chr3:7620670G>A	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.2077G>A	chr3.hg19:g.7620670G>A	ENSP00000350348:p.Ala693Thr	0					GRM7_ENST00000486284.1_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T	p.A693T	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		8	2351	+			Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	1	1	hg19	c.2077G>A	CCDS43042.1	1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054986	0.36277	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.17	6.17	0.99709	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.43152	1.355	0.51233	D	0.999911	B;P;P;P;P	0.43938	0.151;0.59;0.822;0.643;0.731	B;B;P;P;B	0.53360	0.21;0.282;0.724;0.459;0.438	D	0.89714	0.3914	10	0.48119	T	0.1	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	693;693;448;693;693	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	693	ENSP00000350348:A693T;ENSP00000417536:A693T;ENSP00000373987:A693T;ENSP00000385664:A693T;ENSP00000384585:A693T	ENSP00000350348:A693T	A	+	1	0	0	GRM7	7595670	7595670	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.396000	0.73234	2.941000	0.99782	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	0		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_000844			47	47		204	199	1		1			0	0	55	0		1	0	0	0	0	0	0	47	204
GRM7	2917	broad.mit.edu	37	3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000357716.4	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000486284.1_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	775					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)			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						GTGTATGCCATCAAGACTCGG	0.433																																						ENST00000357716.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2323-2325)aTc>aCc		glutamate receptor, metabotropic 7							105.0	99.0	101.0					3																	7620917		2203	4300	6503	SO:0001583	missense	2917	0	0					g.chr3:7620917T>C	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.2324T>C	chr3.hg19:g.7620917T>C	ENSP00000350348:p.Ile775Thr	0					GRM7_ENST00000486284.1_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T	p.I775T	NM_000844.3	NP_000835.1	1	2	3	1.998468	Q14831	GRM7_HUMAN		8	2598	+			Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	1	1	hg19	c.2324T>C	CCDS43042.1	1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847396	0.71603	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	6.17	6.17	0.99709	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P	0.69078	0.621;0.989;0.997;0.968;0.947	P;D;D;D;P	0.80764	0.593;0.985;0.994;0.969;0.747	D	0.94088	0.7350	10	0.87932	D	0	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	775;775;530;775;775	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	775	ENSP00000350348:I775T;ENSP00000417536:I775T;ENSP00000373987:I775T;ENSP00000385664:I775T;ENSP00000384585:I775T	ENSP00000350348:I775T	I	+	2	0	0	GRM7	7595917	7595917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_000844			78	76		287	286	1		1	0		0	0	64	0		1	0	0	0	0	1	0	78	287
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.S79S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587																																						ENST00000157600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(571-573)agC>agT		LIM and cysteine-rich domains 1							93.0	100.0	98.0					3																	8590439		2203	4300	6503	SO:0001819	synonymous_variant	29995	3	121412	38				g.chr3:8590439C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.573C>T	chr3.hg19:g.8590439C>T		0					LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S	p.S191S	NM_014583.2	NP_055398.1	1	2	3	1.998468	Q9NZU5	LMCD1_HUMAN		4	805	+			B4DG80	Silent	SNP	ENST00000157600.3	1	1	hg19	c.573C>T	CCDS33688.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.385550	1	0.170000	NM_014583			133	132		591	583	1		1	1		0	0	120	0		1	1	0	6	0	218	0	133	591
OXTR	5021	broad.mit.edu	37	3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	322					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)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGTTGCAGCAGCTGTTGAGGC	0.592																																						ENST00000316793.3	1.000000	0.460000	9.200000e-01	5.800000e-01	0.720000	0.743241	0.720000	1.000000																										0				13						c.(964-966)agC>agA		oxytocin receptor	Carbetocin(DB01282)|Oxytocin(DB00107)						63.0	57.0	59.0					3																	8794867		2203	4300	6503	SO:0001583	missense	5021	0	0					g.chr3:8794867G>T		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.966C>A	chr3.hg19:g.8794867G>T	ENSP00000324270:p.Ser322Arg	0					CAV3_ENST00000472766.1_Intron	p.S322R	NM_000916.3	NP_000907.2	1	2	3	1.998468	P30559	OXYR_HUMAN		4	1590	-			Q15071	Missense_Mutation	SNP	ENST00000316793.3	1	1	hg19	c.966C>A	CCDS2570.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.168596	0.94768	.	.	ENSG00000180914	ENST00000316793	T	0.79653	-1.29	5.13	5.13	0.70059	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.078859	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95265	0.8372	10	0.87932	D	0	-42.436	17.3169	0.87227	0.0:0.0:1.0:0.0	.	322	P30559	OXYR_HUMAN	R	322	ENSP00000324270:S322R	ENSP00000324270:S322R	S	-	3	2	2	OXTR	8769867	8769867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.655000	0.90218	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-19.999940	1	0.170000				21	21		328	315	1		1	1		0	0	61	0		9.999968e-01	7.913136e-01	0	17	0	31	0	21	328
SRGAP3	9901	broad.mit.edu	37	3	9032472	9032472	+	Silent	SNP	G	G	A	rs537681085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		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)		TGTGTGTGTCGCCCCCGCTTC	0.701			T	RAF1	pilocytic astrocytoma								G|||	4	0.000798722	0.003	0.0	5008	,	,		14100	0.0		0.0	False		,,,				2504	0.0					ENST00000383836.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997962	0.990000	1.000000				Dom	yes			Dom	yes		3	3p25.3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3				M	M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				54						c.(2608-2610)ggC>ggT		SLIT-ROBO Rho GTPase activating protein 3							10.0	13.0	12.0					3																	9032472		2183	4286	6469	SO:0001819	synonymous_variant	9901	3	120704	26				g.chr3:9032472G>A	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.2610C>T	chr3.hg19:g.9032472G>A		0					SRGAP3_ENST00000360413.3_Silent_p.G846G	p.G870G	NM_014850.3	NP_055665.1	1	2	3	1.998468	O43295	SRGP3_HUMAN		21	3037	-			Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	1	1	hg19	c.2610C>T	CCDS2572.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.999990	1	0.170000				15	15		87	85	1		1	0		0	0	25	0		9.999010e-01	2.490842e-02	0	1	0	1	0	15	87
SRGAP3	9901	broad.mit.edu	37	3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	698					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		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)		TCTAGCTCCCGGGGGCTGGGG	0.473			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p25.3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3				M	M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				54						c.(2092-2094)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 3							80.0	68.0	72.0					3																	9055047		2203	4300	6503	SO:0001583	missense	9901	0	0					g.chr3:9055047G>A	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.2092C>T	chr3.hg19:g.9055047G>A	ENSP00000373347:p.Arg698Trp	0					SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	p.R698W	NM_014850.3	NP_055665.1	1	2	3	1.998468	O43295	SRGP3_HUMAN		17	2519	-			Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	1	1	hg19	c.2092C>T	CCDS2572.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002577	0.74932	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;2.15	5.7	3.73	0.42828	5.7	3.73	0.42828	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.68353	0.942;0.957	T	0.23154	-1.0196	10	0.72032	D	0.01	.	13.3197	0.60426	0.0:0.0:0.6146:0.3854	.	674;698	O43295-2;O43295	.;SRGP2_HUMAN	W	698;674	ENSP00000373347:R698W;ENSP00000353587:R674W	ENSP00000353587:R674W	R	-	1	2	2	SRGAP3	9030047	9030047	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.825000	0.48096	1.384000	0.46424	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.438576	0	0.170000				55	53		251	247	1		1	0		0	0	53	0		1	3.003845e-01	0	1	0	5	0	55	251
SRGAP3	9901	broad.mit.edu	37	3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	260	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		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)		AGAGACATCATGGATGTAGTA	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3	1.000000	0.330000	6.700000e-01	4.200000e-01	0.530000	0.559936	0.530000	0.520000				Dom	yes			Dom	yes		3	3p25.3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3				M	M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				54						c.(778-780)cAt>cGt		SLIT-ROBO Rho GTPase activating protein 3							197.0	171.0	180.0					3																	9101937		2203	4300	6503	SO:0001583	missense	9901	1	121412	28				g.chr3:9101937T>C	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.779A>G	chr3.hg19:g.9101937T>C	ENSP00000373347:p.His260Arg	0					SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	p.H260R	NM_014850.3	NP_055665.1	1	2	3	1.998468	O43295	SRGP3_HUMAN		6	1206	-			Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	1	1	hg19	c.779A>G	CCDS2572.1	0	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296143	0.81025	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82323	2.585	0.80722	D	1	D;B;D;D	0.59357	0.985;0.232;0.978;0.963	P;B;P;B	0.50659	0.541;0.135;0.647;0.444	T	0.12243	-1.0555	10	0.42905	T	0.14	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	260;129;260;260	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	R	260;260;140	ENSP00000373347:H260R;ENSP00000353587:H260R	ENSP00000353587:H260R	H	-	2	0	0	SRGAP3	9076937	9076937	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	7.810000	0.86072	1.992000	0.58205	0.377000	0.23210	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-19.992290	1	0.170000				22	21		481	471	0		1	0		0	0	82	0		9.999985e-01	2.838093e-02	0	0	0	6	0	22	481
SETD5	55209	broad.mit.edu	37	3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000406341.1	+	11	1598	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000402466.1_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	470										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)		ACAAGAAGTTCCAGAAAAAGT	0.468																																						ENST00000406341.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				47						c.(1408-1410)Cca>Tca		SET domain containing 5							56.0	58.0	57.0					3																	9486952		1936	4159	6095	SO:0001583	missense	55209	0	0					g.chr3:9486952C>T	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.1408C>T	chr3.hg19:g.9486952C>T	ENSP00000383939:p.Pro470Ser	0					SETD5_ENST00000402466.1_Missense_Mutation_p.P372S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S	p.P470S			1	2	3	1.998468	Q9C0A6	SETD5_HUMAN		11	1598	+	Medulloblastoma(99;0.227)		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	1	1	hg19	c.1408C>T	CCDS46741.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184905|3.184905	0.57909|0.57909	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.92647|.	-2.76;-3.08;-2.76;-2.75;-3.08|.	5.63|5.63	4.74|4.74	0.60224|0.60224	5.63|5.63	4.74|4.74	0.60224|0.60224	.|.	0.113194|.	0.64402|.	D|.	0.000010|.	T|T	0.70631|0.70631	0.3246|0.3246	L|L	0.59436|0.59436	1.845|1.845	0.41185|0.41185	D|D	0.986264|0.986264	B;B;B;B;B|.	0.23377|.	0.009;0.003;0.005;0.084;0.0|.	B;B;B;B;B|.	0.23419|.	0.046;0.004;0.01;0.031;0.001|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.66056|.	D|.	0.02|.	-2.1099|-2.1099	16.7691|16.7691	0.85532|0.85532	0.0:0.8709:0.129:0.0|0.0:0.8709:0.129:0.0	.|.	139;372;372;470;489|.	B3KXG4;B3KRD6;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;.;SETD5_HUMAN;.|.	S|F	470;372;470;489;372|137	ENSP00000385852:P470S;ENSP00000384429:P372S;ENSP00000383939:P470S;ENSP00000384114:P489S;ENSP00000302028:P372S|.	ENSP00000302028:P372S|.	P|S	+|+	1|2	0|0	0|0	SETD5|SETD5	9461952|9461952	9461952|9461952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.249000|1.249000	0.32839|0.32839	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CCA|TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-18.766550	1	0.170000	XM_371614			22	22		59	58	1		1	1		0	0	17	0		9.999996e-01	1	0	30	0	86	0	22	59
SETD5	55209	broad.mit.edu	37	3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000406341.1	+	17	2883	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898										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)		CTTACTACTGCTAGTCGCTGC	0.468																																						ENST00000406341.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2692-2694)gCt>gTt		SET domain containing 5							137.0	133.0	135.0					3																	9506325		1985	4171	6156	SO:0001583	missense	55209	0	0					g.chr3:9506325C>T	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.2693C>T	chr3.hg19:g.9506325C>T	ENSP00000383939:p.Ala898Val	0					SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V	p.A898V			1	2	3	1.998468	Q9C0A6	SETD5_HUMAN		17	2883	+	Medulloblastoma(99;0.227)		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	1	1	hg19	c.2693C>T	CCDS46741.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362848	0.82353	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93133	-2.85;-3.17;-2.85;-2.84;-3.17	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.253628	0.38326	N	0.001729	D	0.89853	0.6835	N	0.19112	0.55	0.46954	D	0.999267	P;P;B;P	0.46952	0.887;0.767;0.427;0.884	B;B;B;B	0.43889	0.435;0.273;0.1;0.414	D	0.91383	0.5129	10	0.66056	D	0.02	-16.0861	19.2942	0.94115	0.0:1.0:0.0:0.0	.	567;800;898;917	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	V	898;800;898;917;800	ENSP00000385852:A898V;ENSP00000384429:A800V;ENSP00000383939:A898V;ENSP00000384114:A917V;ENSP00000302028:A800V	ENSP00000302028:A800V	A	+	2	0	0	SETD5	9481325	9481325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.155000	0.71833	2.724000	0.93272	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	XM_371614			100	99		498	491	1		1	1		0	0	134	0		1	1	0	26	0	100	0	100	498
SETD5	55209	broad.mit.edu	37	3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000406341.1	+	19	3438	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1083										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)		GAAAATTCTGCTGGTGGGGGA	0.488																																						ENST00000406341.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				47						c.(3247-3249)gCt>gAt		SET domain containing 5							53.0	54.0	53.0					3																	9514972		1984	4155	6139	SO:0001583	missense	55209	0	0					g.chr3:9514972C>A	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.3248C>A	chr3.hg19:g.9514972C>A	ENSP00000383939:p.Ala1083Asp	0					SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D	p.A1083D			1	2	3	1.998468	Q9C0A6	SETD5_HUMAN		19	3438	+	Medulloblastoma(99;0.227)		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	1	1	hg19	c.3248C>A	CCDS46741.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937907|1.937907	0.34189|0.34189	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91792|.	-2.59;-2.91;-2.59;-2.59;-2.91|.	3.96|3.96	0.297|0.297	0.15762|0.15762	3.96|3.96	0.297|0.297	0.15762|0.15762	.|.	1.176010|.	0.06525|.	N|.	0.740437|.	T|.	0.15955|.	0.0384|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36535|.	0.557;0.403;0.032|.	B;B;B|.	0.30572|.	0.117;0.083;0.011|.	T|.	0.28618|.	-1.0038|.	10|.	0.72032|.	D|.	0.01|.	0.0521|0.0521	5.9021|5.9021	0.18972|0.18972	0.0:0.6:0.1671:0.2328|0.0:0.6:0.1671:0.2328	.|.	752;985;1083|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|X	1083;985;1083;1102;985|750;413	ENSP00000385852:A1083D;ENSP00000384429:A985D;ENSP00000383939:A1083D;ENSP00000384114:A1102D;ENSP00000302028:A985D|.	ENSP00000302028:A985D|.	A|C	+|+	2|3	0|2	0|2	SETD5|SETD5	9489972|9489972	9489972|9489972	0.793000|0.793000	0.28825|0.28825	0.898000|0.898000	0.35279|0.35279	0.997000|0.997000	0.91878|0.91878	1.464000|1.464000	0.35288|0.35288	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GCT|TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.272968	1	0.170000	XM_371614			29	28		150	146	1		1	1		0	0	61	0		1	9.999982e-01	0	29	0	86	0	29	150
SETD5	55209	broad.mit.edu	37	3	9517250	9517250	+	Missense_Mutation	SNP	G	G	T	rs373046266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	ENST00000406341.1	+	22	3994	c.3804G>T	c.(3802-3804)caG>caT	p.Q1268H	SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q1170H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1268	Ser-rich.									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)		ATCCTACACAGTCTCCAGGAT	0.522																																						ENST00000406341.1	1.000000	0.830000	1	9.800000e-01	0.990000	0.985176	0.990000	1.000000																										0				47						c.(3802-3804)caG>caT		SET domain containing 5							75.0	70.0	72.0					3																	9517250		1900	4118	6018	SO:0001583	missense	55209	0	0					g.chr3:9517250G>T	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.3804G>T	chr3.hg19:g.9517250G>T	ENSP00000383939:p.Gln1268His	0					SETD5_ENST00000402466.1_Missense_Mutation_p.Q1170H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H	p.Q1268H			1	2	3	1.998468	Q9C0A6	SETD5_HUMAN		22	3994	+	Medulloblastoma(99;0.227)		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	0	1	hg19	c.3804G>T	CCDS46741.1	1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705524	0.48412	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.74;-3.08	5.57	0.0657	0.14358	5.57	0.0657	0.14358	.	0.000000	0.64402	D	0.000003	D	0.89298	0.6675	N	0.24115	0.695	0.27653	N	0.947312	D;D;P	0.59767	0.986;0.986;0.94	P;P;P	0.57152	0.814;0.814;0.459	D	0.84108	0.0399	10	0.59425	D	0.04	-4.3563	9.924	0.41481	0.3264:0.0:0.559:0.1146	.	937;1170;1268	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	H	1268;1170;1268;1287;1170	ENSP00000385852:Q1268H;ENSP00000384429:Q1170H;ENSP00000383939:Q1268H;ENSP00000384114:Q1287H;ENSP00000302028:Q1170H	ENSP00000302028:Q1170H	Q	+	3	2	2	SETD5	9492250	9492250	0.122000	0.22280	0.988000	0.46212	0.957000	0.61999	-0.783000	0.04638	-0.529000	0.06358	-0.332000	0.08345	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	0	0	0		15	6	2	1		1	1	91		91	91	1	2.060000	-20.000000	1	0.170000	XM_371614			36	36		333	328	0		1	1		1	0	91	0		9.992594e-01	9.325276e-01	0	12	0	92	0	36	333
MTMR14	64419	broad.mit.edu	37	3	9726291	9726291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	329					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582																																						ENST00000296003.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(985-987)caC>caT		myotubularin related protein 14							134.0	132.0	132.0					3																	9726291		2023	4173	6196	SO:0001819	synonymous_variant	64419	1	120948	34				g.chr3:9726291C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.987C>T	chr3.hg19:g.9726291C>T		0					MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000353332.5_Silent_p.H329H	p.H329H	NM_001077525.2	NP_001070993.1	1	2	3	1.998468	Q8NCE2	MTMRE_HUMAN		11	1109	+	Medulloblastoma(99;0.227)		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	1	1	hg19	c.987C>T	CCDS43043.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	1	0	0		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_022485			90	89		453	447	0		1	1		0	0	91	0		1	1	0	76	0	147	0	90	453
MTMR14	64419	broad.mit.edu	37	3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	345					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587																																						ENST00000296003.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1033-1035)cGc>cAc		myotubularin related protein 14							113.0	109.0	110.0					3																	9726338		1976	4146	6122	SO:0001583	missense	64419	2	120874	33				g.chr3:9726338G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1034G>A	chr3.hg19:g.9726338G>A	ENSP00000296003:p.Arg345His	0					MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H	p.R345H	NM_001077525.2	NP_001070993.1	1	2	3	1.998468	Q8NCE2	MTMRE_HUMAN		11	1156	+	Medulloblastoma(99;0.227)		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	1	1	hg19	c.1034G>A	CCDS43043.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139862	0.94560	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.046924	0.85682	D	0.000000	D	0.95900	0.8665	M	0.83483	2.645	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;0.996;1.0;1.0	D	0.95919	0.8929	10	0.87932	D	0	-2.6883	19.8766	0.96875	0.0:0.0:1.0:0.0	.	99;345;345;345	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	H	345;99;345;345;345;117	ENSP00000323462:R345H;ENSP00000401993:R99H;ENSP00000296003:R345H;ENSP00000334070:R345H;ENSP00000388746:R117H	ENSP00000296003:R345H	R	+	2	0	0	MTMR14	9701338	9701338	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-3.394303	1	0.170000	NM_022485			78	77		355	346	1		1	1		0	0	71	0		1	1	0	73	0	153	0	78	355
CPNE9	151835	broad.mit.edu	37	3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T	rs372048564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	84	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				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)					GCAAAATCTGCGCTTCGATGT	0.602																																						ENST00000383832.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999036	0.990000	1.000000																										0				16						c.(250-252)Cgc>Tgc		copine family member IX							41.0	41.0	41.0					3																	9746668		1932	4141	6073	SO:0001583	missense	151835	1	120792	27				g.chr3:9746668C>T		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.250C>T	chr3.hg19:g.9746668C>T	ENSP00000373343:p.Arg84Cys	0					CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	p.R84C	NM_153635.2	NP_705899.2	1	2	3	1.998468	Q8IYJ1	CPNE9_HUMAN		4	440	+	Medulloblastoma(99;0.227)		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	1	1	hg19	c.250C>T	CCDS2574.2	1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037375	0.93630	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70516	-0.49;-0.49	3.7	3.7	0.42460	3.7	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.216690	0.37530	N	0.002044	D	0.87958	0.6309	H	0.96080	3.765	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.92327	0.5870	10	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	84	Q8IYJ1	CPNE9_HUMAN	C	84	ENSP00000373343:R84C;ENSP00000373342:R84C	ENSP00000373342:R84C	R	+	1	0	0	CPNE9	9721668	9721668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.082000	0.62665	0.444000	0.29173	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-10.842690	1	0.170000	NM_001033755			14	14		69	68	0		1	0		0	0	18	0		9.998303e-01	0	0	0	0	1	0	14	69
BRPF1	7862	broad.mit.edu	37	3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000457855.1	+	5	1882	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	624	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)			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)					GTTCAGCAGATTGCCATGGAG	0.542																																						ENST00000457855.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				49						c.(1870-1872)aTt>aAt		bromodomain and PHD finger containing, 1							71.0	69.0	70.0					3																	9783725		2203	4300	6503	SO:0001583	missense	7862	0	0					g.chr3:9783725T>A	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.1871T>A	chr3.hg19:g.9783725T>A	ENSP00000410210:p.Ile624Asn	0					BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N	p.I624N			1	2	3	1.998468	P55201	BRPF1_HUMAN		5	1882	+	Medulloblastoma(99;0.227)		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	1	1	hg19	c.1871T>A	CCDS2575.1	1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407974	0.25378	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15372	2.43;2.43;3.82;2.43;2.43	5.19	5.19	0.71726	5.19	5.19	0.71726	Bromodomain (1);	0.205038	0.51477	D	0.000084	T	0.12220	0.0297	N	0.08118	0	0.39313	D	0.965114	B;B;B;B	0.24186	0.099;0.002;0.001;0.001	B;B;B;B	0.35688	0.208;0.007;0.001;0.003	T	0.29882	-0.9997	10	0.19590	T	0.45	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	624;624;624;624	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	624	ENSP00000402485:I624N;ENSP00000398863:I624N;ENSP00000373340:I624N;ENSP00000306297:I624N;ENSP00000410210:I624N	ENSP00000306297:I624N	I	+	2	0	0	BRPF1	9758725	9758725	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.127000	0.64727	2.074000	0.62210	0.460000	0.39030	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_001003694			40	39		221	218	1		1	1		0	0	49	0		1	9.950848e-01	0	16	0	32	0	40	221
BRPF1	7862	broad.mit.edu	37	3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000457855.1	+	8	2789	c.2778T>G	c.(2776-2778)agT>agG	p.S926R	BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000433861.2_Intron			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	926	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)			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)					ACGGAGGCAGTCCTGTGGGGC	0.657																																						ENST00000457855.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2776-2778)agT>agG		bromodomain and PHD finger containing, 1							16.0	21.0	19.0					3																	9786068		2200	4294	6494	SO:0001583	missense	7862	0	0					g.chr3:9786068T>G	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.2778T>G	chr3.hg19:g.9786068T>G	ENSP00000410210:p.Ser926Arg	0					BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000433861.2_Intron	p.S926R			1	2	3	1.998468	P55201	BRPF1_HUMAN		8	2789	+	Medulloblastoma(99;0.227)		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	1	1	hg19	c.2778T>G	CCDS2575.1	1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314121	0.60414	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18174	2.23;3.62;2.23;2.23	5.85	2.14	0.27477	5.85	2.14	0.27477	.	0.085141	0.85682	D	0.000000	T	0.22244	0.0536	L	0.59436	1.845	0.58432	D	0.999994	D;D;P	0.57899	0.981;0.981;0.818	P;P;B	0.54026	0.74;0.74;0.331	T	0.08166	-1.0735	10	0.19590	T	0.45	.	6.4094	0.21682	0.0:0.5401:0.0:0.4599	.	925;932;926	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	R	925;932;926;926	ENSP00000398863:S925R;ENSP00000373340:S932R;ENSP00000306297:S926R;ENSP00000410210:S926R	ENSP00000306297:S926R	S	+	3	2	2	BRPF1	9761068	9761068	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.545000	0.23268	0.460000	0.27045	0.459000	0.35465	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_001003694			42	38		151	142	1		1	1		0	0	21	0		1	9.999167e-01	0	10	0	45	0	42	151
CAMK1	8536	broad.mit.edu	37	3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000302008.8_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	56	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)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597																																						ENST00000256460.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995896	0.990000	1.000000																										0				12						c.(166-168)Ctg>Atg		calcium/calmodulin-dependent protein kinase I							75.0	69.0	71.0					3																	9807492		2203	4300	6503	SO:0001583	missense	8536	0	0					g.chr3:9807492G>T	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.166C>A	chr3.hg19:g.9807492G>T	ENSP00000256460:p.Leu56Met	0					OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000449570.2_Splice_Site	p.L56M	NM_003656.4	NP_003647.1	1	2	3	1.998468	Q14012	KCC1A_HUMAN		3	343	-	Medulloblastoma(99;0.227)		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	0	1	hg19	c.166C>A	CCDS2582.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492059|3.492059	0.64074|0.64074	.|.	.|.	ENSG00000114026|ENSG00000134072	ENST00000302036;ENST00000349503;ENST00000302008;ENST00000383826;ENST00000352937|ENST00000256460	.|T	.|0.65549	.|-0.16	4.87|4.87	3.02|3.02	0.34903|0.34903	4.87|4.87	3.02|3.02	0.34903|0.34903	.|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	.|0.000002	.|T	.|0.70193	.|0.3196	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.69479	.|0.964	.|T	.|0.68830	.|-0.5305	.|10	.|0.39692	.|T	.|0.17	.|-9.6405	11.8014|11.8014	0.52128|0.52128	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	.|56	.|Q14012	.|KCC1A_HUMAN	.|M	-1|56	.|ENSP00000256460:L56M	.|ENSP00000256460:L56M	.|L	+|-	.|1	.|2	.|2	OGG1|CAMK1	9782492|9782492	9782492|9782492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.123000|3.123000	0.50453|0.50453	1.170000|1.170000	0.42753|0.42753	0.455000|0.455000	0.32223|0.32223	.|CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.075758	1	0.170000	NM_003656			36	33		295	288	0		1	0		0	0	60	0		1	9.971415e-01	0	1	0	75	0	36	295
TTLL3	26140	broad.mit.edu	37	3	9862345	9862345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000547186.1	+	7	861	c.645C>T	c.(643-645)atC>atT	p.I215I	TTLL3_ENST00000383827.1_Silent_p.I3I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000430793.1_Silent_p.I3I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000455274.1_Silent_p.I3I	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	215	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587																																						ENST00000547186.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(643-645)atC>atT		tubulin tyrosine ligase-like family, member 3							158.0	138.0	145.0					3																	9862345		2203	4300	6503	SO:0001819	synonymous_variant	26140	1	121412	30				g.chr3:9862345C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.645C>T	chr3.hg19:g.9862345C>T		0					ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000383827.1_Silent_p.I3I	p.I215I	NM_001025930.3	NP_001021100.3	1	2	3	1.998468	Q9Y4R7	TTLL3_HUMAN		7	861	+	Medulloblastoma(99;0.227)		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	1	1	hg19	c.645C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490530	0.26686	.	.	ENSG00000214021	ENST00000310252;ENST00000452823	.	.	.	4.87	-5.88	0.02290	4.87	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5914	0.39548	0.0961:0.3039:0.0:0.6	.	.	.	.	X	171;133	.	.	R	+	1	2	2	TTLL3	9837345	9837345	0.001000	0.12720	0.899000	0.35326	0.993000	0.82548	-2.110000	0.01334	-1.158000	0.02811	-0.254000	0.11334	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		17	2	2	0		0	1	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_001025930.2			98	98		452	446	1		1	1		0	0	113	0		1	9.634848e-01	0	4	0	23	0	98	452
TTLL3	26140	broad.mit.edu	37	3	9874919	9874919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000547186.1	+	11	1902	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000430793.1_Silent_p.G350G|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	562					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642																																						ENST00000547186.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1684-1686)ggC>ggT		tubulin tyrosine ligase-like family, member 3							27.0	29.0	28.0					3																	9874919		1912	4111	6023	SO:0001819	synonymous_variant	26140	0	0					g.chr3:9874919C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1686C>T	chr3.hg19:g.9874919C>T		0					ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000383827.1_Intron	p.G562G	NM_001025930.3	NP_001021100.3	1	2	3	1.998468	Q9Y4R7	TTLL3_HUMAN		11	1902	+	Medulloblastoma(99;0.227)		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	1	1	hg19	c.1686C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_001025930.2			48	48		169	168	1		1	0		0	0	49	0		1	4.854509e-01	0	1	0	6	0	48	169
IL17RC	84818	broad.mit.edu	37	3	9960032	9960032	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	ENST00000295981.3	+	4	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000413608.1_Silent_p.E98E	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	169					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGGGAAGAGCCTGAAGATG	0.607																																						ENST00000295981.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998159	0.990000	1.000000																										0				22						c.(505-507)gaG>gaA		interleukin 17 receptor C							50.0	56.0	54.0					3																	9960032		2203	4300	6503	SO:0001819	synonymous_variant	84818	0	0					g.chr3:9960032G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.507G>A	chr3.hg19:g.9960032G>A		0					IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_3'UTR|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E	p.E169E	NM_153461.3	NP_703191	1	2	3	1.998468	Q8NAC3	I17RC_HUMAN		4	725	+			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	1	1	hg19	c.507G>A	CCDS2590.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-9.786261	1	0.170000	NM_032732			11	11		51	50	1		1	1		0	0	14	0		9.987373e-01	9.999789e-01	0	21	0	90	0	11	51
IL17RC	84818	broad.mit.edu	37	3	9970068	9970068	+	Silent	SNP	G	G	A	rs200216570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000413608.1_Silent_p.P319P	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	390					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682																																						ENST00000295981.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1168-1170)ccG>ccA		interleukin 17 receptor C		G	,,,,,	1,4405		0,1,2202	29.0	36.0	34.0		957,957,912,912,957,1170	-9.7	0.0	3		34	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	319/708,319/691,304/689,304/706,319/721,390/792	9970068	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84818	30	121046	45				g.chr3:9970068G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1170G>A	chr3.hg19:g.9970068G>A		0					IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P	p.P390P	NM_153461.3	NP_703191	1	2	3	1.998468	Q8NAC3	I17RC_HUMAN		11	1388	+			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	1	1	hg19	c.1170G>A	CCDS2590.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.619818	1	0.170000	NM_032732			109	107		438	432	1		1	1		0	0	86	0		1	9.999980e-01	0	25	0	52	0	109	438
IL17RC	84818	broad.mit.edu	37	3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000397170.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|CRELD1_ENST00000383811.3_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	525					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512																																						ENST00000295981.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1573-1575)gCg>gTg		interleukin 17 receptor C							272.0	256.0	261.0					3																	9972601		2203	4300	6503	SO:0001583	missense	84818	0	0					g.chr3:9972601C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1574C>T	chr3.hg19:g.9972601C>T	ENSP00000295981:p.Ala525Val	0					CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V	p.A525V	NM_153461.3	NP_703191	1	2	3	1.998468	Q8NAC3	I17RC_HUMAN		16	1792	+			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	1	1	hg19	c.1574C>T	CCDS2590.1	1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798909	0.02841	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.55	2.51	0.30379	4.55	2.51	0.30379	.	0.247503	0.28647	N	0.014618	T	0.13286	0.0322	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29627	0.078;0.054;0.026;0.026;0.04;0.032;0.043;0.231;0.252	B;B;B;B;B;B;B;B;B	0.21151	0.012;0.007;0.005;0.005;0.003;0.003;0.012;0.013;0.033	T	0.27191	-1.0081	10	0.13853	T	0.58	-2.586	7.2918	0.26370	0.0:0.7655:0.0:0.2345	.	439;293;422;437;454;293;439;525;454	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	V	439;525;454;293;422;454	ENSP00000373323:A439V;ENSP00000295981:A525V;ENSP00000384969:A454V;ENSP00000395315:A293V;ENSP00000407894:A422V;ENSP00000396064:A454V	ENSP00000295981:A525V	A	+	2	0	0	IL17RC	9947601	9947601	0.004000	0.15560	0.029000	0.17559	0.314000	0.28054	0.208000	0.17415	0.494000	0.27859	0.462000	0.41574	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1		2	2	2	0		0	0	184		184	181	1	2.060000	-20.000000	1	0.170000	NM_032732			139	135		614	599	1		1	1		0	0	184	0		1	9.999999e-01	0	26	0	78	0	139	614
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A	rs200024536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	206					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642													G|||	2	0.000399361	0.0	0.0029	5008	,	,		14398	0.0		0.0	False		,,,				2504	0.0					ENST00000383811.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(616-618)Gcc>Acc		cysteine-rich with EGF-like domains 1							74.0	73.0	73.0					3																	9982689		2203	4300	6503	SO:0001583	missense	78987	198	121412	54				g.chr3:9982689G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.616G>A	chr3.hg19:g.9982689G>A	ENSP00000373322:p.Ala206Thr	0					CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	p.A206T	NM_015513.4	NP_056328	1	2	3	1.998468	Q96HD1	CREL1_HUMAN		5	1215	+			A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	1	1	hg19	c.616G>A	CCDS2593.1	1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.35	1.911143	0.33721	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62364	0.14;0.14;0.14;0.03	5.33	-1.41	0.08941	5.33	-1.41	0.08941	EGF-like, laminin (1);Growth factor, receptor (1);	0.494060	0.20817	N	0.085124	T	0.22126	0.0533	N	0.05124	-0.11	0.21445	N	0.999681	B;B	0.18013	0.0;0.025	B;B	0.12837	0.0;0.008	T	0.09975	-1.0650	9	.	.	.	.	4.0109	0.09623	0.3124:0.0:0.4295:0.2581	.	206;206	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	206	ENSP00000380355:A206T;ENSP00000373322:A206T;ENSP00000393643:A206T;ENSP00000321856:A206T	.	A	+	1	0	0	CRELD1	9957689	9957689	0.552000	0.26505	0.968000	0.41197	0.985000	0.73830	0.141000	0.16076	-0.034000	0.13713	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.284215	1	0.170000	NM_015513			82	79		348	339	1		1	1		0	0	81	0		1	1	0	27	0	101	0	82	348
CRELD1	78987	broad.mit.edu	37	3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	225					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602																																						ENST00000383811.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(673-675)gaG>gaT		cysteine-rich with EGF-like domains 1							115.0	110.0	112.0					3																	9982832		2203	4300	6503	SO:0001583	missense	78987	2	121412	31				g.chr3:9982832G>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.675G>T	chr3.hg19:g.9982832G>T	ENSP00000373322:p.Glu225Asp	0					CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR	p.E225D	NM_015513.4	NP_056328	1	2	3	1.998468	Q96HD1	CREL1_HUMAN		6	1274	+			A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	1	1	hg19	c.675G>T	CCDS2593.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109127	0.37242	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.96	3.11	0.35812	4.96	3.11	0.35812	Growth factor, receptor (1);	0.192965	0.43919	D	0.000509	T	0.67353	0.2884	N	0.03608	-0.345	0.39846	D	0.97317	P;B	0.38922	0.651;0.42	B;B	0.35859	0.212;0.099	T	0.63220	-0.6686	9	.	.	.	-11.5993	8.3398	0.32237	0.0873:0.1569:0.7558:0.0	.	225;225	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	225	ENSP00000380355:E225D;ENSP00000373322:E225D;ENSP00000393643:E225D;ENSP00000321856:E225D	.	E	+	3	2	2	CRELD1	9957832	9957832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	0.637000	0.30526	0.561000	0.74099	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.159611	1	0.170000	NM_015513			63	62		322	317	1		1	1		0	0	85	0		1	1	0	28	0	134	0	63	322
PRRT3	285368	broad.mit.edu	37	3	9988167	9988167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	ENST00000412055.1	-	4	2819	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	897						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGAAGCCGCAGCGGCTGCCCC	0.692																																						ENST00000412055.1	1.000000	0.750000	1	9.900000e-01	0.990000	0.983418	0.990000	1.000000																										0				13						c.(2689-2691)gCt>gTt		proline-rich transmembrane protein 3							4.0	6.0	5.0					3																	9988167		1691	3731	5422	SO:0001583	missense	285368	0	0					g.chr3:9988167G>A	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.2690C>T	chr3.hg19:g.9988167G>A	ENSP00000392511:p.Ala897Val	0					PRRT3-AS1_ENST00000431558.1_RNA	p.A897V	NM_207351.3	NP_997234.3	1	2	3	1.998468	Q5FWE3	PRRT3_HUMAN		4	2819	-			Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	0	1	hg19	c.2690C>T	CCDS43049.1	1	.	.	.	.	.	.	.	.	.	.	G	4.230	0.041659	0.08196	.	.	ENSG00000163704	ENST00000412055	T	0.15603	2.41	3.27	-0.221	0.13126	3.27	-0.221	0.13126	.	0.669651	0.12827	N	0.435914	T	0.07324	0.0185	N	0.08118	0	0.43130	D	0.994861	B	0.20671	0.047	B	0.21917	0.037	T	0.34229	-0.9837	9	.	.	.	-0.0266	7.4875	0.27441	0.0:0.5147:0.311:0.1743	.	897	Q5FWE3	PRRT3_HUMAN	V	897	ENSP00000392511:A897V	.	A	-	2	0	0	PRRT3	9963167	9963167	0.009000	0.17119	0.001000	0.08648	0.440000	0.31957	0.593000	0.23999	0.153000	0.19213	0.491000	0.48974	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	1	0	1		2	2	2	0		0	0	11		11	9	1	2.060000	-14.819920	1	0.170000	NM_207351			7	5		42	39	0		1	1		0	0	11	0		9.754361e-01	8.469990e-01	0	12	0	11	0	7	42
PRRT3	285368	broad.mit.edu	37	3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A	rs376844783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	250	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597																																						ENST00000412055.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(748-750)Cct>Tct		proline-rich transmembrane protein 3		G	SER/PRO	0,4300		0,0,2150	44.0	52.0	49.0		748	0.7	0.0	3		49	1,8559		0,1,4279	no	missense	PRRT3	NM_207351.3	74	0,1,6429	AA,AG,GG		0.0117,0.0,0.0078	benign	250/982	9991052	1,12859	2150	4280	6430	SO:0001583	missense	285368	3	121214	36				g.chr3:9991052G>A	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.748C>T	chr3.hg19:g.9991052G>A	ENSP00000392511:p.Pro250Ser	0					PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S	p.P250S	NM_207351.3	NP_997234.3	1	2	3	1.998468	Q5FWE3	PRRT3_HUMAN		2	877	-			Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	1	1	hg19	c.748C>T	CCDS43049.1	1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886714	0.02511	0.0	1.17E-4	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21734	2.35;1.99	3.52	0.734	0.18294	3.52	0.734	0.18294	.	0.471138	0.18199	N	0.148572	T	0.10380	0.0254	N	0.16656	0.425	0.09310	N	1	B;B	0.25563	0.011;0.129	B;B	0.20767	0.018;0.031	T	0.32745	-0.9895	9	.	.	.	-0.9377	8.1237	0.30986	0.3086:0.0:0.6914:0.0	.	250;250	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	250	ENSP00000392511:P250S;ENSP00000404512:P250S	.	P	-	1	0	0	PRRT3	9966052	9966052	0.739000	0.28196	0.028000	0.17463	0.001000	0.01503	0.645000	0.24782	-0.071000	0.12886	-0.813000	0.03139	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.942735	1	0.170000	NM_207351			66	64		308	301	1		1	1		0	0	74	0		1	8.884239e-01	0	9	0	11	0	66	308
EFHB	151651	broad.mit.edu	37	3	19924048	19924048	+	Missense_Mutation	SNP	T	T	G	rs199867500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	ENST00000295824.9	-	12	2483	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	774							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATACCTCTTCTTTTGATCTGG	0.299																																						ENST00000295824.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999373	0.990000	1.000000																										0				26						c.(2320-2322)aaA>aaC		EF-hand domain family, member B							36.0	33.0	34.0					3																	19924048		2203	4300	6503	SO:0001583	missense	151651	0	0					g.chr3:19924048T>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2322A>C	chr3.hg19:g.19924048T>G	ENSP00000295824:p.Lys774Asn	0					EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	p.K774N	NM_144715.3	NP_653316.3	1	2	3	1.998468	Q8N7U6	EFHB_HUMAN		12	2483	-			A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	0	1	hg19	c.2322A>C	CCDS33715.2	1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914093	0.33815	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34275	3.05;1.37	5.55	-0.721	0.11189	5.55	-0.721	0.11189	.	0.109069	0.64402	D	0.000010	T	0.57519	0.2059	M	0.84683	2.71	0.34471	D	0.702805	D;D	0.89917	0.999;1.0	D;D	0.73708	0.981;0.973	T	0.67902	-0.5550	9	.	.	.	-23.6196	11.0307	0.47772	0.0:0.4452:0.0:0.5548	.	644;774	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	N	774;644	ENSP00000295824:K774N;ENSP00000342263:K644N	.	K	-	3	2	2	EFHB	19899052	19899052	0.911000	0.30947	0.488000	0.27440	0.080000	0.17528	-0.095000	0.11077	-0.056000	0.13221	-0.250000	0.11733	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-11.044030	1	0.170000	NM_144715			14	14		64	62	0		1	0		0	0	8	0		9.998188e-01	3.147565e-01	0	1	0	5	0	14	64
EFHB	151651	broad.mit.edu	37	3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000295824.9	-	11	2281	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	707							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403																																						ENST00000295824.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(2119-2121)gCa>gTa		EF-hand domain family, member B							99.0	95.0	96.0					3																	19925921		2203	4300	6503	SO:0001583	missense	151651	0	0					g.chr3:19925921G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2120C>T	chr3.hg19:g.19925921G>A	ENSP00000295824:p.Ala707Val	0					EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	p.A707V	NM_144715.3	NP_653316.3	1	2	3	1.998468	Q8N7U6	EFHB_HUMAN		11	2281	-			A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	1	1	hg19	c.2120C>T	CCDS33715.2	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590323	0.86851	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34667	1.35;1.4	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.075009	0.51477	D	0.000086	T	0.57562	0.2062	M	0.77103	2.36	0.40306	D	0.978667	P;D	0.59767	0.925;0.986	P;P	0.55455	0.691;0.776	T	0.59064	-0.7524	9	.	.	.	-13.2516	19.7874	0.96444	0.0:0.0:1.0:0.0	.	577;707	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	707;577	ENSP00000295824:A707V;ENSP00000342263:A577V	.	A	-	2	0	0	EFHB	19900925	19900925	0.945000	0.32115	0.019000	0.16419	0.093000	0.18481	5.062000	0.64326	2.685000	0.91497	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_144715			46	45		148	146	1		1	0		0	0	31	0		1	1.463637e-01	0	0	0	3	0	46	148
RAB5A	5868	broad.mit.edu	37	3	19992405	19992405	+	Silent	SNP	C	C	T	rs111819761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19992405C>T	ENST00000273047.4	+	2	551	c.15C>T	c.(13-15)ggC>ggT	p.G5G	RAB5A_ENST00000422242.1_Silent_p.G5G	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	5					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						CTAGTCGAGGCGCAACAAGAC	0.438													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		15524	0.0		0.0	False		,,,				2504	0.0					ENST00000273047.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(13-15)ggC>ggT		RAB5A, member RAS oncogene family		C		31,4375	36.8+/-68.6	0,31,2172	61.0	62.0	62.0		15	2.1	1.0	3	dbSNP_132	62	0,8600		0,0,4300	no	coding-synonymous	RAB5A	NM_004162.4		0,31,6472	TT,TC,CC		0.0,0.7036,0.2384		5/216	19992405	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	5868	71	121412	48				g.chr3:19992405C>T		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.15C>T	chr3.hg19:g.19992405C>T		0					RAB5A_ENST00000422242.1_Silent_p.G5G	p.G5G	NM_004162.4	NP_004153.2	1	2	3	1.998468	P20339	RAB5A_HUMAN		2	551	+			B4DJA5|Q6FI44	Silent	SNP	ENST00000273047.4	1	0	hg19	c.15C>T	CCDS2633.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.509432	1	0.170000	NM_004162			64	64		282	280	1		1	1		0	0	56	0		1	1	0	65	0	240	0	64	282
KAT2B	8850	broad.mit.edu	37	3	20167396	20167396	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			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						TTGCATCTCAGACCAATTTTC	0.468																																						ENST00000263754.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				40						c.e10-1		K(lysine) acetyltransferase 2B							71.0	74.0	73.0					3																	20167396		2203	4300	6503	SO:0001630	splice_region_variant	8850	0	0					g.chr3:20167396G>T	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.1414-1G>T	chr3.hg19:g.20167396G>T		0							NM_003884.4	NP_003875.3	1	2	3	1.998468	Q92831	KAT2B_HUMAN		10	1868	+			Q6NSK1	Splice_Site	SNP	ENST00000263754.4	1	1	hg19		CCDS2634.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337915	0.60963	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6847	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	KAT2B	20142400	20142400	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.222122	1	0.170000	NM_003884	Intron		62	61		382	375	1		1			0	0	69	0		1	0	0	0	0	0	0	62	382
KAT2B	8850	broad.mit.edu	37	3	20169002	20169002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	570	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				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)			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						GATTCACAGAGATTGTCTTCT	0.428																																						ENST00000263754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1708-1710)gaG>gaA		K(lysine) acetyltransferase 2B							200.0	179.0	186.0					3																	20169002		2203	4300	6503	SO:0001819	synonymous_variant	8850	0	0					g.chr3:20169002G>A	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.1710G>A	chr3.hg19:g.20169002G>A		0						p.E570E	NM_003884.4	NP_003875.3	1	2	3	1.998468	Q92831	KAT2B_HUMAN		11	2165	+			Q6NSK1	Silent	SNP	ENST00000263754.4	1	1	hg19	c.1710G>A	CCDS2634.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_003884			78	78		300	298	0		1	0		0	0	66	0		1	9.998644e-01	0	0	0	53	0	78	300
ZNF385D	79750	broad.mit.edu	37	3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A	rs373837350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	375						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547																																						ENST00000281523.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999632	0.990000	1.000000																										0				46						c.(1123-1125)Ctc>Ttc		zinc finger protein 385D							55.0	53.0	53.0					3																	21462771		2203	4300	6503	SO:0001583	missense	79750	0	0					g.chr3:21462771G>A	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.1123C>T	chr3.hg19:g.21462771G>A	ENSP00000281523:p.Leu375Phe	0						p.L375F	NM_024697.2	NP_078973.1	1	2	3	1.998468	Q9H6B1	Z385D_HUMAN		8	1641	-				Missense_Mutation	SNP	ENST00000281523.2	1	1	hg19	c.1123C>T	CCDS2636.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741734	0.49151	.	.	ENSG00000151789	ENST00000281523	T	0.51574	0.7	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.42744	1.35	0.53005	D	0.999964	B	0.28636	0.218	B	0.23150	0.044	T	0.34403	-0.9830	10	0.59425	D	0.04	-29.8816	20.3747	0.98911	0.0:0.0:1.0:0.0	.	375	Q9H6B1	Z385D_HUMAN	F	375	ENSP00000281523:L375F	ENSP00000281523:L375F	L	-	1	0	0	ZNF385D	21437775	21437775	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	4.681000	0.61663	2.819000	0.97034	0.557000	0.71058	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-20.000000	1	0.170000	NM_024697			25	25		150	149	1		1	0		0	0	32	0		9.999999e-01	2.179217e-01	0	0	0	6	0	25	150
ZNF385D	79750	broad.mit.edu	37	3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	339						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						agctgctAGAGGATTTGGTAG	0.458																																						ENST00000281523.2	1.000000	0.740000	1	9.600000e-01	0.990000	0.975112	0.990000	1.000000																										0				46						c.(1015-1017)cCt>cTt		zinc finger protein 385D							39.0	42.0	41.0					3																	21462878		2203	4300	6503	SO:0001583	missense	79750	0	0					g.chr3:21462878G>A	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.1016C>T	chr3.hg19:g.21462878G>A	ENSP00000281523:p.Pro339Leu	0						p.P339L	NM_024697.2	NP_078973.1	1	2	3	1.998468	Q9H6B1	Z385D_HUMAN		8	1534	-				Missense_Mutation	SNP	ENST00000281523.2	0	1	hg19	c.1016C>T	CCDS2636.1	1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232462	0.39498	.	.	ENSG00000151789	ENST00000281523	T	0.36340	1.26	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.206063	0.46442	D	0.000292	T	0.37812	0.1017	L	0.45352	1.415	0.49130	D	0.999759	B	0.21225	0.053	B	0.16722	0.016	T	0.11275	-1.0594	10	0.87932	D	0	-23.679	20.6593	0.99626	0.0:0.0:1.0:0.0	.	339	Q9H6B1	Z385D_HUMAN	L	339	ENSP00000281523:P339L	ENSP00000281523:P339L	P	-	2	0	0	ZNF385D	21437882	21437882	0.998000	0.40836	0.243000	0.24186	0.238000	0.25445	2.679000	0.46909	2.887000	0.99086	0.650000	0.86243	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-19.999990	1	0.170000	NM_024697			17	17		150	148	0		1	0		0	0	21	0		9.999710e-01	6.079538e-02	0	0	0	4	0	17	150
ZNF385D	79750	broad.mit.edu	37	3	21467002	21467002	+	Silent	SNP	C	C	T	rs200280562		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21467002C>T	ENST00000281523.2	-	6	1352	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	278						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGCGTTTCCGAGTTGACGT	0.418																																						ENST00000281523.2	1.000000	0.110000	3.300000e-01	1.600000e-01	0.230000	0.281398	0.230000	0.210000																										0				46						c.(832-834)tcG>tcA		zinc finger protein 385D		C		0,4406		0,0,2203	219.0	193.0	202.0		834	-6.7	0.9	3		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF385D	NM_024697.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		278/396	21467002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79750	5	121410	40				g.chr3:21467002C>T	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.834G>A	chr3.hg19:g.21467002C>T		0						p.S278S	NM_024697.2	NP_078973.1	1	2	3	1.998468	Q9H6B1	Z385D_HUMAN		6	1352	-				Silent	SNP	ENST00000281523.2	0	1	hg19	c.834G>A	CCDS2636.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-2.244286	0	0.170000	NM_024697			10	10		528	519	0		1	0		0	0	76	0		9.966558e-01	1.333840e-03	0	0	0	3	0	10	528
ZNF385D	79750	broad.mit.edu	37	3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D	ZNF385D_ENST00000494118.1_5'Flank	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473																																						ENST00000281523.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(634-636)gCt>gAt		zinc finger protein 385D							163.0	133.0	143.0					3																	21478500		2203	4300	6503	SO:0001583	missense	79750	0	0					g.chr3:21478500G>T	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.635C>A	chr3.hg19:g.21478500G>T	ENSP00000281523:p.Ala212Asp	0					ZNF385D_ENST00000494118.1_5'Flank	p.A212D	NM_024697.2	NP_078973.1	1	2	3	1.998468	Q9H6B1	Z385D_HUMAN		5	1153	-				Missense_Mutation	SNP	ENST00000281523.2	1	1	hg19	c.635C>A	CCDS2636.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.215996	0.95104	.	.	ENSG00000151789	ENST00000281523	T	0.21543	2.0	6.09	5.19	0.71726	6.09	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24584	-1.0156	10	0.54805	T	0.06	-9.7885	17.5408	0.87846	0.0:0.1232:0.8768:0.0	.	212	Q9H6B1	Z385D_HUMAN	D	212	ENSP00000281523:A212D	ENSP00000281523:A212D	A	-	2	0	0	ZNF385D	21453504	21453504	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_024697			74	73		412	410	1		1	0		0	0	90	0		1	1.150775e-01	0	0	0	4	0	74	412
UBE2E1	7324	broad.mit.edu	37	3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453																																						ENST00000306627.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				7						c.(574-576)Gct>Act		ubiquitin-conjugating enzyme E2E 1							98.0	88.0	91.0					3																	23932089		2203	4300	6503	SO:0001583	missense	7324	0	0					g.chr3:23932089G>A	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.574G>A	chr3.hg19:g.23932089G>A	ENSP00000303709:p.Ala192Thr	0					UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T	p.A192T	NM_003341.4	NP_003332.1	1	2	3	1.998468	P51965	UB2E1_HUMAN		6	793	+			B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	1	1	hg19	c.574G>A	CCDS2638.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707835	0.89018	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.86	5.0	0.66597	5.86	5.0	0.66597	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	D	0.91506	0.7318	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.94761	0.7936	10	0.87932	D	0	.	15.0642	0.71980	0.0678:0.0:0.9321:0.0	.	192	P51965	UB2E1_HUMAN	T	192;175;159;150	ENSP00000303709:A192T;ENSP00000329113:A175T;ENSP00000411351:A159T;ENSP00000393088:A150T	ENSP00000303709:A192T	A	+	1	0	0	UBE2E1	23907093	23907093	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-16.507130	1	0.170000	NM_003341			30	30		153	147	1		1	1		0	0	63	0		1	1	0	51	0	262	0	30	153
NR1D2	9975	broad.mit.edu	37	3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	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	182	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)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATTCCTAAGCGTGAAAAACAG	0.338																																						ENST00000312521.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(544-546)cGt>cAt		nuclear receptor subfamily 1, group D, member 2							70.0	63.0	65.0					3																	24003495		2203	4300	6503	SO:0001583	missense	9975	1	121408	28				g.chr3:24003495G>A	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.545G>A	chr3.hg19:g.24003495G>A	ENSP00000310006:p.Arg182His	0					NR1D2_ENST00000492552.1_3'UTR	p.R182H	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	1	2	3	1.998468	Q14995	NR1D2_HUMAN		5	864	+			B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	1	1	hg19	c.545G>A	CCDS33718.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.277576	0.95459	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96396	-4.0	5.98	5.98	0.97165	5.98	5.98	0.97165	Nuclear hormone receptor, ligand-binding (1);	0.104396	0.64402	D	0.000004	D	0.97939	0.9322	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	182	Q14995	NR1D2_HUMAN	H	182	ENSP00000310006:R182H	ENSP00000310006:R182H	R	+	2	0	0	NR1D2	23978499	23978499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.834000	0.97654	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				34	33		157	157	1		1	1		0	0	40	0		1	1	0	16	0	116	0	34	157
THRB	7068	broad.mit.edu	37	3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000356447.4	-	4	536	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000416420.1_Missense_Mutation_p.Q84H|THRB_ENST00000396671.2_Missense_Mutation_p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	84	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTGGAAGGTCTGGGCACTTG	0.423																																					Melanoma(21;896 1043 15021 37958)	ENST00000356447.4	1.000000	0.320000	5.900000e-01	3.900000e-01	0.480000	0.512644	0.480000	0.470000																										0				19						c.(250-252)caG>caT		thyroid hormone receptor, beta	Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						201.0	192.0	195.0					3																	24231596		2203	4300	6503	SO:0001583	missense	7068	0	0					g.chr3:24231596C>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.252G>T	chr3.hg19:g.24231596C>A	ENSP00000348827:p.Gln84His	0					THRB_ENST00000396671.2_Missense_Mutation_p.Q84H|THRB_ENST00000416420.1_Missense_Mutation_p.Q84H	p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	1	2	3	1.998468	P10828	THB_HUMAN		4	536	-			B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	1	1	hg19	c.252G>T	CCDS2641.1	0	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205171	0.58234	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96830	-3.27;-3.27;-3.27;-4.14	6.07	4.26	0.50523	6.07	4.26	0.50523	.	.	.	.	.	D	0.91395	0.7285	N	0.24115	0.695	0.24548	N	0.994032	P	0.41041	0.736	B	0.35550	0.205	D	0.83841	0.0257	9	0.46703	T	0.11	.	11.6123	0.51066	0.0:0.8081:0.1256:0.0663	.	84	P10828	THB_HUMAN	H	84;84;84;53;84;84;84;84;84	ENSP00000379904:Q84H;ENSP00000348827:Q84H;ENSP00000414444:Q84H;ENSP00000414100:Q53H	ENSP00000348827:Q84H	Q	-	3	2	2	THRB	24206600	24206600	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	1.411000	0.34702	0.866000	0.35629	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-3.963931	1	0.170000	NM_000461			29	28		698	686	0		1	0		0	0	101	0		1	1.259748e-01	0	0	0	15	0	29	698
RARB	5915	broad.mit.edu	37	3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000404969.1	+	2	201	c.201C>A	c.(199-201)agC>agA	p.S67R	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.S60R			P10826	RARB_HUMAN	retinoic acid receptor, beta	67	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448																																						ENST00000404969.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(199-201)agC>agA		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)						96.0	103.0	100.0					3																	25502706		2203	4300	6503	SO:0001583	missense	5915	0	0					g.chr3:25502706C>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.201C>A	chr3.hg19:g.25502706C>A	ENSP00000385865:p.Ser67Arg	0					RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.S60R|RARB_ENST00000458646.1_5'UTR	p.S67R			1	2	3	1.998468	P10826	RARB_HUMAN		2	201	+			P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	1	1	hg19	c.201C>A		1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730521	0.89390	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.9;-3.12;-3.09	5.71	4.73	0.59995	5.71	4.73	0.59995	.	0.088824	0.85682	D	0.000000	D	0.92740	0.7692	L	0.56280	1.765	0.53688	D	0.999978	D;D	0.62365	0.991;0.977	D;P	0.68039	0.955;0.905	D	0.91640	0.5326	10	0.72032	D	0.01	.	3.7645	0.08617	0.0:0.667:0.0:0.333	.	67;60	P10826;F1D8S6	RARB_HUMAN;.	R	67;67;67;60	ENSP00000373282:S67R;ENSP00000385865:S67R;ENSP00000332296:S60R	ENSP00000332296:S60R	S	+	3	2	2	RARB	25477710	25477710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.723000	0.93209	0.644000	0.83932	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	RARB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_000965, NM_016152			68	67		360	350	1		1	1		0	0	125	0		1	9.999110e-01	0	25	0	49	0	68	360
TOP2B	7155	broad.mit.edu	37	3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000264331.4	-	24	3160	c.3161G>A	c.(3160-3162)cGt>cAt	p.R1054H	TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000540199.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1049H|TOP2B_ENST00000542520.1_5'UTR	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1054					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)			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)	CCACTCCTTACGTAAACCGTA	0.353																																						ENST00000264331.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3160-3162)cGt>cAt		topoisomerase (DNA) II beta 180kDa	Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)						55.0	53.0	53.0					3																	25660243		1835	4083	5918	SO:0001583	missense	7155	1	120786	27				g.chr3:25660243C>T	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.3161G>A	chr3.hg19:g.25660243C>T	ENSP00000264331:p.Arg1054His	0					TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000540199.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1049H	p.R1054H	NM_001068.2	NP_001059.2	1	2	3	1.998468	Q02880	TOP2B_HUMAN		24	3160	-			Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	1	1	hg19	c.3161G>A		1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890974	0.91889	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.68903	-0.36;-0.36	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90894	0.4763	10	0.87932	D	0	-0.216	20.038	0.97570	0.0:1.0:0.0:0.0	.	1049	Q02880-2	.	H	1049;1054;1049	ENSP00000396704:R1049H;ENSP00000264331:R1054H	ENSP00000264331:R1054H	R	-	2	0	0	TOP2B	25635247	25635247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.737000	0.93849	0.557000	0.71058	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-19.999380	1	0.170000				32	29		107	99	1		1	1		0	0	38	0		1	1	0	30	0	181	0	32	107
TOP2B	7155	broad.mit.edu	37	3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000264331.4	-	17	2085	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TOP2B_ENST00000435706.2_Missense_Mutation_p.R691C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					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)			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)	TGTAGCCTACGCTGTCTCCGG	0.388																																						ENST00000264331.4	1.000000	0.770000	1	9.900000e-01	0.990000	0.984871	0.990000	1.000000																										0				36						c.(2086-2088)Cgt>Tgt		topoisomerase (DNA) II beta 180kDa	Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)						68.0	69.0	69.0					3																	25668286		2203	4300	6503	SO:0001583	missense	7155	0	0					g.chr3:25668286G>A	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.2086C>T	chr3.hg19:g.25668286G>A	ENSP00000264331:p.Arg696Cys	0					TOP2B_ENST00000435706.2_Missense_Mutation_p.R691C	p.R696C	NM_001068.2	NP_001059.2	1	2	3	1.998468	Q02880	TOP2B_HUMAN		17	2085	-			Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	0	1	hg19	c.2086C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574399	0.65878	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	D	0.53745	0.962	P	0.49192	0.602	T	0.67397	-0.5681	10	0.66056	D	0.02	0.0	19.5213	0.95185	0.0:0.0:1.0:0.0	.	691	Q02880-2	.	C	691;696;691	ENSP00000396704:R691C;ENSP00000264331:R696C	ENSP00000264331:R696C	R	-	1	0	0	TOP2B	25643290	25643290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.316000	0.59178	2.681000	0.91329	0.557000	0.71058	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-7.567301	1	0.170000				9	8		60	59	1		1	1		0	0	10	0		9.945707e-01	9.999827e-01	0	32	0	145	0	9	60
TOP2B	7155	broad.mit.edu	37	3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000264331.4	-	11	1375	c.1376T>C	c.(1375-1377)aTt>aCt	p.I459T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I454T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	459					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)			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)	CAGTTTGGGAATACCTTTGAT	0.299																																						ENST00000264331.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1375-1377)aTt>aCt		topoisomerase (DNA) II beta 180kDa	Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)						128.0	115.0	119.0					3																	25672321		1842	4084	5926	SO:0001583	missense	7155	0	0					g.chr3:25672321A>G	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.1376T>C	chr3.hg19:g.25672321A>G	ENSP00000264331:p.Ile459Thr	0					TOP2B_ENST00000435706.2_Missense_Mutation_p.I454T	p.I459T	NM_001068.2	NP_001059.2	1	2	3	1.998468	Q02880	TOP2B_HUMAN		11	1375	-			Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	1	1	hg19	c.1376T>C		1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259482	0.80246	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.95402	3.665	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.85031	0.0917	10	0.87932	D	0	-9.7441	15.2768	0.73748	1.0:0.0:0.0:0.0	.	454	Q02880-2	.	T	454;459;454	ENSP00000396704:I454T;ENSP00000264331:I459T	ENSP00000264331:I459T	I	-	2	0	0	TOP2B	25647325	25647325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				31	31		109	106	1		1	1		0	0	31	0		1	1	0	30	0	95	0	31	109
NGLY1	55768	broad.mit.edu	37	3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000280700.5	-	12	2076	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000467224.1_5'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	639	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373																																						ENST00000280700.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1915-1917)gAc>gGc		N-glycanase 1							100.0	104.0	103.0					3																	25761000		2203	4300	6503	SO:0001583	missense	55768	0	0					g.chr3:25761000T>C	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.1916A>G	chr3.hg19:g.25761000T>C	ENSP00000280700:p.Asp639Gly	0					NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G	p.D639G	NM_018297.3	NP_060767.2	1	2	3	1.998468	Q96IV0	NGLY1_HUMAN		12	2076	-			B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	1	1	hg19	c.1916A>G	CCDS33719.1	1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107473	0.37145	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.71	5.71	0.89125	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.132657	0.64402	D	0.000003	T	0.20577	0.0495	L	0.41415	1.275	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.13407	0.007;0.009;0.006	T	0.05699	-1.0869	10	0.38643	T	0.18	-19.0564	8.5722	0.33576	0.0:0.1139:0.0:0.8861	.	597;621;639	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	G	621;639;618;597	ENSP00000387430:D621G;ENSP00000280700:D639G;ENSP00000307980:D618G;ENSP00000389888:D597G	ENSP00000280700:D639G	D	-	2	0	0	NGLY1	25736004	25736004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	2.188000	0.69820	0.454000	0.30748	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				64	63		255	252	1		1	1		0	0	72	0		1	1	0	45	0	101	0	64	255
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000357467.2_Missense_Mutation_p.V68I|NEK10_ENST00000341435.5_Missense_Mutation_p.V671I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	671	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)			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						TACTTACTAACGGTTACTTTG	0.378																																						ENST00000429845.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				41						c.(2011-2013)Gtt>Att		NIMA-related kinase 10							114.0	107.0	109.0					3																	27326096		2203	4300	6503	SO:0001583	missense	152110	0	0					g.chr3:27326096C>T	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.2011G>A	chr3.hg19:g.27326096C>T	ENSP00000395849:p.Val671Ile	0					NEK10_ENST00000341435.5_Missense_Mutation_p.V671I|NEK10_ENST00000357467.2_Missense_Mutation_p.V68I	p.V671I			1	2	3	1.998468	Q6ZWH5	NEK10_HUMAN		23	2373	-			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	1	1	hg19	c.2011G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.504|5.504	0.277915|0.277915	0.10403|0.10403	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.34072	.|1.38;1.38	6.02|6.02	4.23|4.23	0.50019|0.50019	6.02|6.02	4.23|4.23	0.50019|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);	.|0.278543	.|0.34046	.|N	.|0.004303	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00403|0.00403	-1.54|-1.54	0.35353|0.35353	D|D	0.787516|0.787516	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.02654	.|T	.|1	.|.	8.1462|8.1462	0.31113|0.31113	0.0:0.7434:0.0:0.2566|0.0:0.7434:0.0:0.2566	.|.	.|671;68	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	H|I	127|68;671;671	.|ENSP00000350059:V68I;ENSP00000343847:V671I	.|ENSP00000343847:V671I	R|V	-|-	2|1	0|0	0|0	NEK10|NEK10	27301100|27301100	27301100|27301100	0.962000|0.962000	0.33011|0.33011	0.669000|0.669000	0.29828|0.29828	0.956000|0.956000	0.61745|0.61745	1.794000|1.794000	0.38774|0.38774	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGT|GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.224064	1	0.170000	NM_152534			35	35		221	216	0		1	0		0	0	80	0		1	1.978022e-02	0	1	0	1	0	35	221
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*|NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	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)			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						TGATGTTTTTCCTTCAAAGAA	0.328																																						ENST00000429845.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1861-1863)Gaa>Taa		NIMA-related kinase 10							78.0	87.0	84.0					3																	27326381		2198	4297	6495	SO:0001587	stop_gained	152110	0	0					g.chr3:27326381C>A	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.1861G>T	chr3.hg19:g.27326381C>A	ENSP00000395849:p.Glu621*	0					NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*	p.E621*			1	2	3	1.998468	Q6ZWH5	NEK10_HUMAN		22	2223	-			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	ENST00000429845.2	0	1	hg19	c.1861G>T		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	43|43|43	10.472178|10.472178|10.472178	0.99411|0.99411|0.99411	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	.|.|.	.|.|.	.|.|.	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.154036|.|.	0.53938|.|.	D|.|.	0.000041|.|.	.|T|T	.|0.66479|0.66479	.|0.2793|0.2793	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68827|0.68827	.|-0.5306|-0.5306	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	15.0168|15.0168|15.0168	0.71591|0.71591|0.71591	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	18;621;621|77|107	.|.|.	ENSP00000343847:E621X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	0|0|2	NEK10|NEK10|NEK10	27301385|27301385|27301385	27301385|27301385|27301385	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.781000|0.781000|0.781000	0.44180|0.44180|0.44180	4.519000|4.519000|4.519000	0.60517|0.60517|0.60517	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAA|GGA|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_152534			79	77		299	298	1		1	0		0	0	68	0		1	1.150574e-01	0	0	0	3	0	79	299
RBMS3	27303	broad.mit.edu	37	3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000383767.2	+	5	788	c.452T>G	c.(451-453)aTg>aGg	p.M151R	RBMS3_ENST00000434693.2_Missense_Mutation_p.M150R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	151	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408																																						ENST00000383767.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(451-453)aTg>aGg		RNA binding motif, single stranded interacting protein 3							174.0	167.0	169.0					3																	29781263		2203	4300	6503	SO:0001583	missense	27303	0	0					g.chr3:29781263T>G	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.452T>G	chr3.hg19:g.29781263T>G	ENSP00000373277:p.Met151Arg	0					RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000434693.2_Missense_Mutation_p.M150R	p.M151R			1	2	3	1.998468	Q6XE24	RBMS3_HUMAN		5	788	+		Ovarian(412;0.0956)	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	1	1	hg19	c.452T>G	CCDS33724.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578634	0.86645	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.52	5.52	0.82312	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	0.48537	0.1505	M	0.88979	2.995	0.80722	D	1	D;P;D;D	0.59767	0.982;0.906;0.982;0.986	D;P;D;D	0.70935	0.927;0.888;0.927;0.971	T	0.57069	-0.7874	9	.	.	.	.	15.6346	0.76941	0.0:0.0:0.0:1.0	.	151;151;150;151	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	150;151;151;151;151;150;151;151	ENSP00000395592:M150R;ENSP00000379828:M151R;ENSP00000373277:M151R;ENSP00000391934:M151R;ENSP00000273139:M151R;ENSP00000373276:M150R;ENSP00000397926:M151R;ENSP00000400519:M151R	.	M	+	2	0	0	RBMS3	29756267	29756267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.093000	0.63338	0.460000	0.39030	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-20.000000	1	0.170000	NM_001003792			173	172		609	599	1		1	0		0	0	163	0		1	9.690939e-01	0	0	0	22	0	173	609
TGFBR2	7048	broad.mit.edu	37	3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602																																						ENST00000295754.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53	GRCh37	CM075033	TGFBR2	M		c.(1078-1080)cAc>cCc		transforming growth factor, beta receptor II (70/80kDa)							170.0	153.0	159.0					3																	30713754		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30713754A>C		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1079A>C	chr3.hg19:g.30713754A>C	ENSP00000295754:p.His360Pro	0					TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	p.H360P	NM_003242.5	NP_003233.4	1	2	3	1.998468	P37173	TGFR2_HUMAN		4	1461	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	1	1	hg19	c.1079A>C	CCDS2648.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048007	0.75846	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67865	-0.29;-0.29	4.84	4.84	0.62591	4.84	4.84	0.62591	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	0.83945	0.5364	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87437	0.2392	10	0.87932	D	0	.	14.4331	0.67264	1.0:0.0:0.0:0.0	.	360;385	P37173;D2JYI1	TGFR2_HUMAN;.	P	360;385;190	ENSP00000295754:H360P;ENSP00000351905:H385P	ENSP00000295754:H360P	H	+	2	0	0	TGFBR2	30688758	30688758	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.335000	0.96500	1.809000	0.52856	0.528000	0.53228	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0	0	1		20	17	2	1		1	1	164		164	163	1	2.060000	-20.000000	1	0.170000				164	162		806	796	1		1	1	1	1	0	164	588		1	1	1	254	133	539	536	164	806
TGFBR2	7048	broad.mit.edu	37	3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A	rs397516493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488																																						ENST00000295754.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1471-1473)Gtg>Atg		transforming growth factor, beta receptor II (70/80kDa)							124.0	115.0	118.0					3																	30729950		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30729950G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1471G>A	chr3.hg19:g.30729950G>A	ENSP00000295754:p.Val491Met	0					TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	p.V491M	NM_003242.5	NP_003233.4	1	2	3	1.998468	P37173	TGFR2_HUMAN		6	1853	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	1	1	hg19	c.1471G>A	CCDS2648.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.232553	0.95207	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67345	-0.26;-0.26	5.38	5.38	0.77491	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	0.84534	0.5493	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86550	0.1834	10	0.87932	D	0	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	491;516	P37173;D2JYI1	TGFR2_HUMAN;.	M	491;516;321	ENSP00000295754:V491M;ENSP00000351905:V516M	ENSP00000295754:V491M	V	+	1	0	0	TGFBR2	30704954	30704954	1.000000	0.71417	0.802000	0.32245	0.993000	0.82548	9.577000	0.98196	2.682000	0.91365	0.591000	0.81541	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000				69	69		324	317	1		1	1	1	0	0	94	864		1	1	1	264	162	611	802	69	324
TGFBR2	7048	broad.mit.edu	37	3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:15731757}.|R -> H (in LDS2). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597																																						ENST00000295754.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R528H(1)	large_intestine(1)	53	GRCh37	CM050762	TGFBR2	M	rs104893815	c.(1582-1584)cGt>cAt		transforming growth factor, beta receptor II (70/80kDa)							72.0	68.0	69.0					3																	30732970		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30732970G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1583G>A	chr3.hg19:g.30732970G>A	ENSP00000295754:p.Arg528His	0					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	p.R528H	NM_003242.5	NP_003233.4	1	2	3	1.998468	P37173	TGFR2_HUMAN		7	1965	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	1	1	hg19	c.1583G>A	CCDS2648.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.592391	0.96590	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99264	-5.65;-5.65	5.91	5.91	0.95273	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	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	H	528;553;358	ENSP00000295754:R528H;ENSP00000351905:R553H	ENSP00000295754:R528H	R	+	2	0	0	TGFBR2	30707974	30707974	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000				71	70		338	331	1		1	1	1	0	0	78	793		1	1	1	208	178	591	654	71	338
OSBPL10	114884	broad.mit.edu	37	3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	154	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			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)		TTTGCATCAGCAGCTAAAATA	0.433																																						ENST00000396556.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				34						c.(460-462)Gct>Act		oxysterol binding protein-like 10							89.0	86.0	87.0					3																	31918002		2203	4300	6503	SO:0001583	missense	114884	0	0					g.chr3:31918002C>T	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.460G>A	chr3.hg19:g.31918002C>T	ENSP00000379804:p.Ala154Thr	0					OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	p.A154T	NM_017784.4	NP_060254.2	1	2	3	1.998468	Q9BXB5	OSB10_HUMAN		3	582	-			B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	1	1	hg19	c.460G>A	CCDS2651.1	1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564909	0.13498	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.45276	0.9;2.26	5.26	4.37	0.52481	5.26	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361080	0.27956	N	0.017174	T	0.25865	0.0630	N	0.20401	0.57	0.26882	N	0.967524	P;B	0.43578	0.811;0.053	B;B	0.40825	0.341;0.088	T	0.07347	-1.0777	10	0.16896	T	0.51	-6.2716	9.3779	0.38295	0.1528:0.7726:0.0:0.0745	.	154;154	B4E212;Q9BXB5	.;OSB10_HUMAN	T	154	ENSP00000379804:A154T;ENSP00000406124:A154T	ENSP00000379804:A154T	A	-	1	0	0	OSBPL10	31893006	31893006	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.571000	0.36450	1.182000	0.42928	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.670100	1	0.170000				38	38		205	202	1		1	1		0	0	33	0		1	9.999270e-01	0	29	0	52	0	38	205
CMTM7	112616	broad.mit.edu	37	3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	84	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547																																						ENST00000334983.5	1.000000	0.320000	6.100000e-01	4.000000e-01	0.490000	0.524439	0.490000	0.480000																										0				4						c.(250-252)Gac>Aac		CKLF-like MARVEL transmembrane domain containing 7							220.0	185.0	197.0					3																	32483422		2203	4300	6503	SO:0001583	missense	112616	2	121412	37				g.chr3:32483422G>A	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.250G>A	chr3.hg19:g.32483422G>A	ENSP00000335605:p.Asp84Asn	0					CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	p.D84N	NM_138410.2	NP_612419.1	1	2	3	1.998468	Q96FZ5	CKLF7_HUMAN		2	486	+			Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	1	1	hg19	c.250G>A	CCDS33730.1	0	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210546	0.09757	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.25085	1.82	5.5	3.58	0.41010	5.5	3.58	0.41010	Marvel (1);MARVEL-like domain (1);	0.293959	0.35466	N	0.003183	T	0.12433	0.0302	N	0.17674	0.51	0.27806	N	0.942302	B;B	0.21821	0.061;0.011	B;B	0.14578	0.011;0.006	T	0.18681	-1.0329	10	0.23891	T	0.37	.	3.0843	0.06272	0.2612:0.0:0.5303:0.2085	.	84;84	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	N	84;84;40	ENSP00000335605:D84N	ENSP00000335605:D84N	D	+	1	0	0	CMTM7	32458426	32458426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.887000	0.48586	0.571000	0.29365	-0.229000	0.12294	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-3.971761	1	0.170000				26	24		611	601	0		1	1		0	0	106	0		9.999999e-01	9.978917e-01	0	15	0	209	0	26	611
DYNC1LI1	51143	broad.mit.edu	37	3	32571040	32571040	+	Missense_Mutation	SNP	T	T	C	rs373462716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	ENST00000273130.4	-	11	1401	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	433					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCTTTCATGTTTGGATCAAT	0.378																																						ENST00000273130.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999431	0.990000	1.000000																										0				7						c.(1297-1299)aAc>aGc		dynein, cytoplasmic 1, light intermediate chain 1							68.0	65.0	66.0					3																	32571040		2203	4300	6503	SO:0001583	missense	51143	0	0					g.chr3:32571040T>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1298A>G	chr3.hg19:g.32571040T>C	ENSP00000273130:p.Asn433Ser	0					DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	p.N433S	NM_016141.3	NP_057225.2	1	2	3	1.998468	Q9Y6G9	DC1L1_HUMAN		11	1401	-			A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	1	1	hg19	c.1298A>G	CCDS2654.1	1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479274	0.44044	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.19394	2.15;2.15	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.141137	0.64402	D	0.000007	T	0.19846	0.0477	L	0.48877	1.53	0.50813	D	0.999897	B;B	0.20550	0.046;0.002	B;B	0.22152	0.038;0.005	T	0.05903	-1.0857	10	0.23302	T	0.38	-24.0102	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	317;433	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	433;317	ENSP00000273130:N433S;ENSP00000407279:N317S	ENSP00000273130:N433S	N	-	2	0	0	DYNC1LI1	32546044	32546044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.339000	0.65953	2.371000	0.80710	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-11.667530	1	0.170000	NM_016141			17	16		88	88	1		1	1		0	0	18	0		9.999777e-01	9.999996e-01	0	4	0	153	0	17	88
DYNC1LI1	51143	broad.mit.edu	37	3	32572011	32572011	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	361					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303																																						ENST00000273130.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1081-1083)tTt>tCt		dynein, cytoplasmic 1, light intermediate chain 1							78.0	78.0	78.0					3																	32572011		2203	4297	6500	SO:0001630	splice_region_variant	51143	0	0					g.chr3:32572011A>G	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1081-1T>C	chr3.hg19:g.32572011A>G		0					DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	p.F361S	NM_016141.3	NP_057225.2	1	2	3	1.998468	Q9Y6G9	DC1L1_HUMAN		9	1185	-			A2RRG7|Q53HC8|Q53HK7	Splice_Site	SNP	ENST00000273130.4	1	0	hg19	c.1082T>C	CCDS2654.1	1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437829	0.43326	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18960	2.18;2.18	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.093290	0.85682	D	0.000000	T	0.14917	0.0360	N	0.12182	0.205	0.58432	D	0.999991	P;B	0.47191	0.891;0.007	B;B	0.43225	0.412;0.013	T	0.11743	-1.0575	10	0.21014	T	0.42	-17.4934	16.4069	0.83677	1.0:0.0:0.0:0.0	.	245;361	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	361;245	ENSP00000273130:F361S;ENSP00000407279:F245S	ENSP00000273130:F361S	F	-	2	0	0	DYNC1LI1	32547015	32547015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.252000	0.78309	2.272000	0.75746	0.460000	0.39030	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_016141	Missense_Mutation		61	60		226	221	1		1	1		0	0	51	0		1	1	0	7	0	118	0	61	226
DYNC1LI1	51143	broad.mit.edu	37	3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	334					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294																																						ENST00000273130.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				7						c.(1000-1002)Gga>Tga		dynein, cytoplasmic 1, light intermediate chain 1							75.0	82.0	80.0					3																	32574558		2203	4288	6491	SO:0001587	stop_gained	51143	0	0					g.chr3:32574558C>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1000G>T	chr3.hg19:g.32574558C>A	ENSP00000273130:p.Gly334*	0					DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	p.G334*	NM_016141.3	NP_057225.2	1	2	3	1.998468	Q9Y6G9	DC1L1_HUMAN		8	1103	-			A2RRG7|Q53HC8|Q53HK7	Nonsense_Mutation	SNP	ENST00000273130.4	0	1	hg19	c.1000G>T	CCDS2654.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.298957	0.98196	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.048924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6077	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	334;218	.	ENSP00000273130:G334X	G	-	1	0	0	DYNC1LI1	32549562	32549562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-3.265381	1	0.170000	NM_016141			30	30		157	155	1		1	1		0	0	32	0		1	9.999999e-01	0	7	0	137	0	30	157
CNOT10	25904	broad.mit.edu	37	3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	425					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294																																						ENST00000328834.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				23						c.(1273-1275)gTt>gCt		CCR4-NOT transcription complex, subunit 10							78.0	82.0	81.0					3																	32774973		2203	4299	6502	SO:0001583	missense	25904	0	0					g.chr3:32774973T>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1274T>C	chr3.hg19:g.32774973T>C	ENSP00000330060:p.Val425Ala	0					CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	p.V425A	NM_015442.2	NP_056257.1	1	2	3	1.998468	Q9H9A5	CNO10_HUMAN		11	1590	+			B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	1	1	hg19	c.1274T>C	CCDS2655.1	1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686005	0.88639	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.52754	1.25;1.2;0.65;1.17	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.105420	0.64402	D	0.000004	T	0.63686	0.2532	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.63880	0.98;0.993;0.983;0.988	P;P;P;P	0.60789	0.718;0.879;0.826;0.675	T	0.64778	-0.6327	10	0.52906	T	0.07	-24.444	16.3426	0.83092	0.0:0.0:0.0:1.0	.	485;425;424;425	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	A	425;425;325;197;485	ENSP00000329376:V425A;ENSP00000330060:V425A;ENSP00000442552:V197A;ENSP00000399862:V485A	ENSP00000330060:V425A	V	+	2	0	0	CNOT10	32749977	32749977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.317000	0.78254	0.460000	0.39030	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-18.298780	1	0.170000	NM_015442			32	32		155	153	1		1	1		0	0	54	0		1	9.961396e-01	0	8	0	37	0	32	155
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	242					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.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721																																						ENST00000383763.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P242P(1)	lung(1)	24						c.(724-726)ccG>ccA		tripartite motif containing 71, E3 ubiquitin protein ligase							11.0	12.0	12.0					3																	32860298		1658	3720	5378	SO:0001819	synonymous_variant	131405	1	115836	30				g.chr3:32860298G>A		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.726G>A	chr3.hg19:g.32860298G>A		0						p.P242P	NM_001039111.1	NP_001034200.1	1	2	3	1.998468	Q2Q1W2	LIN41_HUMAN		1	789	+				Silent	SNP	ENST00000383763.5	1	1	hg19	c.726G>A	CCDS43060.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	1	0	1		2	2	2	0		0	0	23		23	20	1	2.060000	-20.000000	1	0.170000	NM_001039111			44	44		213	203	0		1			0	0	23	0		1	0	0	0	0	0	0	44	213
CCR4	1233	broad.mit.edu	37	3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	93					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498																																						ENST00000330953.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(277-279)cCt>cTt		chemokine (C-C motif) receptor 4							231.0	220.0	224.0					3																	32995192		2203	4300	6503	SO:0001583	missense	1233	0	0					g.chr3:32995192C>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.278C>T	chr3.hg19:g.32995192C>T	ENSP00000332659:p.Pro93Leu	0						p.P93L	NM_005508.4	NP_005499.1	1	2	3	1.998468	P51679	CCR4_HUMAN		2	446	+			Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	1	1	hg19	c.278C>T	CCDS2656.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934249	0.92458	.	.	ENSG00000183813	ENST00000330953	T	0.72051	-0.62	5.95	5.95	0.96441	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	D	0.89382	0.6699	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	93	P51679	CCR4_HUMAN	L	93	ENSP00000332659:P93L	ENSP00000332659:P93L	P	+	2	0	0	CCR4	32970196	32970196	1.000000	0.71417	0.954000	0.39281	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-2.875305	1	0.170000				150	144		638	620	1		1	0		0	0	109	0		1	0	0	0	0	1	0	150	638
CCR4	1233	broad.mit.edu	37	3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTGCTACTCCATGATCA	0.483																																						ENST00000330953.5	1.000000	0.220000	5.400000e-01	3.000000e-01	0.400000	0.442175	0.400000	0.390000																										0				16						c.(664-666)taC>taA		chemokine (C-C motif) receptor 4							136.0	118.0	124.0					3																	32995580		2203	4300	6503	SO:0001587	stop_gained	1233	0	0					g.chr3:32995580C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.666C>A	chr3.hg19:g.32995580C>A	ENSP00000332659:p.Tyr222*	0						p.Y222*	NM_005508.4	NP_005499.1	1	2	3	1.998468	P51679	CCR4_HUMAN		2	834	+			Q9ULY6|Q9ULY7	Nonsense_Mutation	SNP	ENST00000330953.5	0	1	hg19	c.666C>A	CCDS2656.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.576924	0.96565	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.95	4.13	0.48395	5.95	4.13	0.48395	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4166	0.38525	0.0:0.7773:0.0:0.2227	.	.	.	.	X	222	.	ENSP00000332659:Y222X	Y	+	3	2	2	CCR4	32970584	32970584	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.039000	0.30266	1.498000	0.48600	0.655000	0.94253	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-13.464310	1	0.170000				14	14		413	412	0		1	0		0	0	71	0		9.997595e-01	4.748702e-02	0	0	0	10	0	14	413
GLB1	2720	broad.mit.edu	37	3	33099761	33099761	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000399402.3	-	6	594	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F	GLB1_ENST00000307363.5_Splice_Site_p.V185F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Splice_Site_p.V233F	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	185			L -> R (in GM1G2 and GM1G3; 6.7% of wild- type enzyme activity). {ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:19472408}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCATTTTCAACCTGTGAGTGA	0.453																																						ENST00000399402.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				21						c.(463-465)Gtt>Ttt		galactosidase, beta 1							27.0	29.0	28.0					3																	33099761		1851	4099	5950	SO:0001630	splice_region_variant	2720	0	0					g.chr3:33099761C>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.463-1G>T	chr3.hg19:g.33099761C>A		0					GLB1_ENST00000445488.2_Splice_Site_p.V233F|GLB1_ENST00000307363.5_Splice_Site_p.V185F|GLB1_ENST00000307377.8_Intron	p.V155F	NM_001079811.1	NP_001073279	1	2	3	1.998468	P16278	BGAL_HUMAN		6	594	-		Melanoma(143;0.104)	B2R7H8|B7Z6B0|P16279	Splice_Site	SNP	ENST00000399402.3	1	0	hg19	c.463G>T	CCDS43062.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775302	0.90108	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.57	5.57	0.84162	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95611	3.695	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	0.98516	1.0621	10	0.87932	D	0	-22.4263	19.5175	0.95170	0.0:1.0:0.0:0.0	.	185;185;233	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	F	155;185;233;26;54	ENSP00000382333:V155F;ENSP00000306920:V185F;ENSP00000393377:V233F;ENSP00000411813:V26F;ENSP00000411769:V54F	ENSP00000306920:V185F	V	-	1	0	0	GLB1	33074765	33074765	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.574000	0.67424	2.780000	0.95670	0.655000	0.94253	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_000404	Missense_Mutation		30	30		125	123	1		1	1		0	0	31	0		1	1	0	2	0	154	0	30	125
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000283627.6_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498																																						ENST00000484457.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.e9+1		F-box and leucine-rich repeat protein 2							151.0	143.0	146.0					3																	33415414		2203	4300	6503	SO:0001630	splice_region_variant	25827	0	0					g.chr3:33415414G>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.657+1G>A	chr3.hg19:g.33415414G>A		0					FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site		NM_012157.3	NP_036289.3	1	2	3	1.998468				9	748	+				Splice_Site	SNP	ENST00000484457.1	1	1	hg19		CCDS2658.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953424	0.73902	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	.	.	.	5.29	5.29	0.74685	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8767	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	FBXL2	33390418	33390418	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.722000	0.98770	2.873000	0.98535	0.644000	0.83932	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.014148	1	0.170000	NM_012157	Intron		64	62		229	228	1		1			0	0	61	0		1	0	0	0	0	0	0	64	229
FBXL2	25827	broad.mit.edu	37	3	33420310	33420310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33420310G>T	ENST00000446237.3	+	14	1182	c.158G>T	c.(157-159)gGg>gTg	p.G53V	FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000484457.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000538892.1_Intron					F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGCTGTTTGGGTTCTCTTTC	0.393																																						ENST00000446237.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(157-159)gGg>gTg		F-box and leucine-rich repeat protein 2																																				SO:0001583	missense	25827	0	0					g.chr3:33420310G>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000446237.3:c.158G>T	chr3.hg19:g.33420310G>T	ENSP00000389251:p.Gly53Val	0					FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000484457.1_Intron	p.G53V			1	2	3	1.998468				14	1182	+				Missense_Mutation	SNP	ENST00000446237.3	0	1	hg19	c.158G>T		1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134621	0.09032	.	.	ENSG00000153558	ENST00000446237	T	0.16457	2.34	3.39	1.37	0.22104	3.39	1.37	0.22104	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31280	-0.9949	5	.	.	.	.	8.2416	0.31662	0.0:0.0:0.5855:0.4145	.	.	.	.	V	53	ENSP00000389251:G53V	.	G	+	2	0	0	FBXL2	33395314	33395314	0.053000	0.20554	0.004000	0.12327	0.082000	0.17680	0.485000	0.22324	0.171000	0.19730	0.543000	0.68304	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FBXL2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	22		22	20	1	2.060000	-20.000000	1	0.170000	NM_012157			34	34		120	117	1		1	0		0	0	22	0		1	0	0	0	0	1	0	34	120
UBP1	7342	broad.mit.edu	37	3	33444367	33444367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Silent_p.A283A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	319					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)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458																																						ENST00000283629.3	1.000000	0.500000	1	7.300000e-01	0.990000	0.902100	0.990000	1.000000																										0				23						c.(955-957)gcC>gcT		upstream binding protein 1 (LBP-1a)							78.0	65.0	70.0					3																	33444367		2203	4300	6503	SO:0001819	synonymous_variant	7342	0	0					g.chr3:33444367G>A	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.957C>T	chr3.hg19:g.33444367G>A		0					UBP1_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Silent_p.A283A	p.A319A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	1	2	3	1.998468	Q9NZI7	UBIP1_HUMAN		9	1486	-			Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	0	1	hg19	c.957C>T	CCDS2659.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-13.295740	1	0.170000	NM_014517			8	8		86	79	1		1	1		0	0	15	0		9.868526e-01	9.996721e-01	0	37	0	148	0	8	86
UBP1	7342	broad.mit.edu	37	3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	156					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)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333																																						ENST00000283629.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(466-468)Gga>Tga		upstream binding protein 1 (LBP-1a)							125.0	122.0	123.0					3																	33453162		2203	4300	6503	SO:0001587	stop_gained	7342	0	0					g.chr3:33453162C>A	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.466G>T	chr3.hg19:g.33453162C>A	ENSP00000283629:p.Gly156*	0					UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|RNU7-110P_ENST00000516891.1_RNA	p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	1	2	3	1.998468	Q9NZI7	UBIP1_HUMAN		5	995	-			Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Nonsense_Mutation	SNP	ENST00000283629.3	0	1	hg19	c.466G>T	CCDS2659.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.064091	0.99053	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8616	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000283628:G156X	G	-	1	0	0	UBP1	33428166	33428166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.850000	0.98022	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-2.695202	1	0.170000	NM_014517			89	85		463	460	1		1	1		0	0	104	0		1	1	0	8	0	135	0	89	463
CLASP2	23122	broad.mit.edu	37	3	33623338	33623338	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000468888.2	-	23	2371	c.2325T>C	c.(2323-2325)agT>agC	p.S775S	CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000399362.4_Silent_p.S774S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	541					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)			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						AGCGAACAGGACTTGTGTCTC	0.517																																						ENST00000468888.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				48						c.(2323-2325)agT>agC		cytoplasmic linker associated protein 2							120.0	132.0	128.0					3																	33623338		2062	4206	6268	SO:0001819	synonymous_variant	23122	0	0					g.chr3:33623338A>G	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.2325T>C	chr3.hg19:g.33623338A>G		0					CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000399362.4_Silent_p.S774S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000307312.7_Silent_p.S263S	p.S775S			1	2	3	1.998468	O75122	CLAP2_HUMAN		23	2371	-			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	1	1	hg19	c.2325T>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_001207044			22	22		78	76	1		1	1		0	0	37	0		9.999994e-01	9.999987e-01	0	15	0	75	0	22	78
CLASP2	23122	broad.mit.edu	37	3	33729814	33729814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33729814C>T	ENST00000468888.2	-	4	471	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.R142Q|CLASP2_ENST00000399362.4_Missense_Mutation_p.R142Q			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1192					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)			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						TTCTCGAGATCGAAAATTCTT	0.284																																						ENST00000468888.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998878	0.990000	1.000000																										0				48						c.(424-426)cGa>cAa		cytoplasmic linker associated protein 2							27.0	24.0	25.0					3																	33729814		1814	4084	5898	SO:0001583	missense	23122	2	120454	31				g.chr3:33729814C>T	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.425G>A	chr3.hg19:g.33729814C>T	ENSP00000419974:p.Arg142Gln	0					CLASP2_ENST00000399362.4_Missense_Mutation_p.R142Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.R142Q|CLASP2_ENST00000307312.7_5'UTR	p.R142Q			1	2	3	1.998468	O75122	CLAP2_HUMAN		4	471	-			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	0	0	hg19	c.425G>A		1	.	.	.	.	.	.	.	.	.	.	C	33	5.230980	0.95207	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	T;T;T	0.38240	1.15;1.15;1.15	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.61602	0.2360	M	0.83483	2.645	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.67138	-0.5746	10	0.62326	D	0.03	-11.3274	15.3439	0.74320	0.0:1.0:0.0:0.0	.	142	F5H604	.	Q	142	ENSP00000419974:R142Q;ENSP00000382297:R142Q;ENSP00000352581:R142Q	ENSP00000352581:R142Q	R	-	2	0	0	CLASP2	33704818	33704818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.526000	0.60566	2.534000	0.85438	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	1	0	0		2	2	2	0		0	0	7		7	7	1	2.060000	-3.761701	1	0.170000	NM_001207044			10	10		37	37	1		1	1	0	0	0	7	0		9.979296e-01	9.970679e-01	0	12	1	32	0	10	37
PDCD6IP	10015	broad.mit.edu	37	3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	490	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)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338																																						ENST00000307296.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1468-1470)Gca>Tca		programmed cell death 6 interacting protein							58.0	58.0	58.0					3																	33885712		2203	4299	6502	SO:0001583	missense	10015	0	0					g.chr3:33885712G>T	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.1468G>T	chr3.hg19:g.33885712G>T	ENSP00000307387:p.Ala490Ser	0					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S	p.A490S			1	2	3	1.998468	Q8WUM4	PDC6I_HUMAN		11	1845	+			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	1	1	hg19	c.1468G>T	CCDS2660.1	1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550891	0.27739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.28069	1.63;1.63	5.27	4.4	0.53042	5.27	4.4	0.53042	.	0.369300	0.31949	N	0.006801	T	0.15305	0.0369	N	0.20766	0.605	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14578	0.009;0.011;0.005	T	0.07654	-1.0761	10	0.07644	T	0.81	-6.8926	6.2042	0.20593	0.1533:0.0:0.6964:0.1503	.	271;495;490	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	490;495	ENSP00000307387:A490S;ENSP00000411825:A495S	ENSP00000307387:A490S	A	+	1	0	0	PDCD6IP	33860716	33860716	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.287000	0.43505	1.238000	0.43771	-0.259000	0.10710	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				53	53		221	214	1		1	1		0	0	58	0		1	1	0	164	0	402	0	53	221
ARPP21	10777	broad.mit.edu	37	3	35748539	35748539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:35748539C>T	ENST00000187397.4	+	10	1216	c.760C>T	c.(760-762)Cga>Tga	p.R254*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	254	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TATCTTGAAGCGAGATAACTC	0.378																																						ENST00000187397.4	1.000000	0.260000	6.000000e-01	3.400000e-01	0.450000	0.488707	0.450000	0.430000																										0				61						c.(760-762)Cga>Tga		cAMP-regulated phosphoprotein, 21kDa							102.0	107.0	105.0					3																	35748539		2203	4300	6503	SO:0001587	stop_gained	10777	1	121412	31				g.chr3:35748539C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.760C>T	chr3.hg19:g.35748539C>T	ENSP00000187397:p.Arg254*	0					ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*	p.R254*	NM_016300.4	NP_057384.2	1	2	3	1.998468	Q9UBL0	ARP21_HUMAN		10	1216	+			B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	0	1	hg19	c.760C>T	CCDS2661.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.576318	0.98870	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.019	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000187397:R254X	R	+	1	2	2	ARPP21	35723543	35723543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.411000	0.34702	2.880000	0.98712	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	0	0	1		2	2	2	0		0	0	68		68	65	1	2.060000	-4.113359	1	0.170000	NM_198399			16	16		416	410	0		1			0	0	68	0		9.999283e-01	0	0	0	0	0	0	16	416
DCLK3	85443	broad.mit.edu	37	3	36757013	36757013	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1		DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTTAGCAGCTGTTGGAATG	0.473																																						ENST00000416516.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.e5-1		doublecortin-like kinase 3							69.0	69.0	69.0					3																	36757013		1928	4125	6053	SO:0001630	splice_region_variant	85443	0	0					g.chr3:36757013C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1754-1G>T	chr3.hg19:g.36757013C>A		0					DCLK3_ENST00000498047.1_5'Flank		NM_033403.1	NP_208382.1	1	2	3	1.998468	Q9C098	DCLK3_HUMAN		5	2244	-				Splice_Site	SNP	ENST00000416516.2	1	1	hg19		CCDS43064.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585628	0.86748	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DCLK3	36732017	36732017	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.295000	0.78780	2.885000	0.99019	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.938193	1	0.170000	XM_047355	Intron		56	55		203	196	1		1			0	0	56	0		1	0	0	0	0	0	0	56	203
TRANK1	9881	broad.mit.edu	37	3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000429976.2	-	21	8818	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C	TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C|TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2857							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						TACCGCCAGCCCAGGCCTTCC	0.582																																						ENST00000429976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(8569-8571)tgG>tgT		tetratricopeptide repeat and ankyrin repeat containing 1							47.0	47.0	47.0					3																	36872371		1957	4158	6115	SO:0001583	missense	9881	0	0					g.chr3:36872371C>A	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.8571G>T	chr3.hg19:g.36872371C>A	ENSP00000416168:p.Trp2857Cys	0					TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	p.W2857C	NM_014831.2	NP_055646.2	1	2	3	1.998468	O15050	TRNK1_HUMAN		21	8818	-			Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	1	1	hg19	c.8571G>T	CCDS46789.2	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340832	0.60963	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.62498	0.02;0.43;0.02	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75425	-0.3322	10	0.87932	D	0	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	2857	O15050	TRNK1_HUMAN	C	2307;2857;2307	ENSP00000416826:W2307C;ENSP00000416168:W2857C;ENSP00000301807:W2307C	ENSP00000301807:W2307C	W	-	3	0	0	TRANK1	36847375	36847375	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.359000	0.66074	2.607000	0.88179	0.561000	0.74099	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_014831			56	56		209	202	0		1	1		0	0	41	0		1	9.999979e-01	0	4	0	72	0	56	209
TRANK1	9881	broad.mit.edu	37	3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000429976.2	-	20	5760	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D	TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D|TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1838							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						TGCAATAGCAGCTTCTTCAAA	0.483																																						ENST00000429976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(5512-5514)gCt>gAt		tetratricopeptide repeat and ankyrin repeat containing 1							108.0	108.0	108.0					3																	36876271		1913	4119	6032	SO:0001583	missense	9881	0	0					g.chr3:36876271G>T	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.5513C>A	chr3.hg19:g.36876271G>T	ENSP00000416168:p.Ala1838Asp	0					TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	p.A1838D	NM_014831.2	NP_055646.2	1	2	3	1.998468	O15050	TRNK1_HUMAN		20	5760	-			Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	1	1	hg19	c.5513C>A	CCDS46789.2	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604635	0.87157	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000017	T	0.56834	0.2012	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.57394	-0.7819	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1838	O15050	TRNK1_HUMAN	D	1288;1838;1288	ENSP00000416826:A1288D;ENSP00000416168:A1838D;ENSP00000301807:A1288D	ENSP00000301807:A1288D	A	-	2	0	0	TRANK1	36851275	36851275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_014831			77	75		233	230	1		1	1		0	0	53	0		1	9.972743e-01	0	2	0	28	0	77	233
TRANK1	9881	broad.mit.edu	37	3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000429976.2	-	12	4293	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I	TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I|TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						ACTGAAGAGGCTGTAGATCTC	0.483																																						ENST00000429976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(4045-4047)aGc>aTc		tetratricopeptide repeat and ankyrin repeat containing 1							90.0	93.0	92.0					3																	36897035		1911	4113	6024	SO:0001583	missense	9881	1	120838	36				g.chr3:36897035C>A	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.4046G>T	chr3.hg19:g.36897035C>A	ENSP00000416168:p.Ser1349Ile	0					TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	p.S1349I	NM_014831.2	NP_055646.2	1	2	3	1.998468	O15050	TRNK1_HUMAN		12	4293	-			Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	1	1	hg19	c.4046G>T	CCDS46789.2	1	.	.	.	.	.	.	.	.	.	.	C	4.429	0.079359	0.08533	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	-1.71	0.08133	5.46	-1.71	0.08133	.	1.536190	0.03332	N	0.193583	T	0.74741	0.3756	N	0.24115	0.695	0.09310	N	1	B	0.32939	0.391	B	0.38428	0.273	T	0.64508	-0.6391	10	0.46703	T	0.11	.	7.0783	0.25217	0.0:0.2959:0.1271:0.577	.	1349	O15050	TRNK1_HUMAN	I	799;1349;799	ENSP00000416826:S799I;ENSP00000416168:S1349I;ENSP00000301807:S799I	ENSP00000301807:S799I	S	-	2	0	0	TRANK1	36872039	36872039	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.412000	0.02476	-0.030000	0.13804	0.561000	0.74099	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_014831			115	114		546	539	1		1	1		0	0	117	0		1	9.968050e-01	0	5	0	37	0	115	546
TRANK1	9881	broad.mit.edu	37	3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000429976.2	-	12	3341	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R|TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1032							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						CCACTTCGCCCAATAAGGATG	0.547																																						ENST00000429976.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(3094-3096)Ggg>Agg		tetratricopeptide repeat and ankyrin repeat containing 1							82.0	81.0	82.0					3																	36897987		1966	4152	6118	SO:0001583	missense	9881	0	0					g.chr3:36897987C>T	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.3094G>A	chr3.hg19:g.36897987C>T	ENSP00000416168:p.Gly1032Arg	0					TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	p.G1032R	NM_014831.2	NP_055646.2	1	2	3	1.998468	O15050	TRNK1_HUMAN		12	3341	-			Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	1	1	hg19	c.3094G>A	CCDS46789.2	1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929489	0.73327	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.90261	-2.64;-2.64;-2.64	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	D	0.95265	0.8464	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.0703	0.93130	0.0:1.0:0.0:0.0	.	1032	O15050	TRNK1_HUMAN	R	482;1032;482	ENSP00000416826:G482R;ENSP00000416168:G1032R;ENSP00000301807:G482R	ENSP00000301807:G482R	G	-	1	0	0	TRANK1	36872991	36872991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.976000	0.70484	2.594000	0.87642	0.462000	0.41574	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.163909	1	0.170000	NM_014831			83	82		336	332	0		1	1		0	0	97	0		1	9.848124e-01	0	4	0	25	0	83	336
EPM2AIP1	9852	broad.mit.edu	37	3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	303					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)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398																																						ENST00000322716.5	1.000000	0.710000	1	8.600000e-01	0.990000	0.950471	0.990000	1.000000																										0				27						c.(907-909)Gaa>Aaa		EPM2A (laforin) interacting protein 1							73.0	70.0	71.0					3																	37033662		1881	4101	5982	SO:0001583	missense	9852	0	0					g.chr3:37033662C>T	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.907G>A	chr3.hg19:g.37033662C>T	ENSP00000406027:p.Glu303Lys	0					MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank	p.E303K	NM_014805.3	NP_055620.1	1	2	3	1.998468	Q7L775	EPMIP_HUMAN		1	1133	-			O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	1	1	hg19	c.907G>A	CCDS46790.1	1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812362	0.16537	.	.	ENSG00000178567	ENST00000322716	D	0.83591	-1.74	4.8	3.91	0.45181	4.8	3.91	0.45181	.	.	.	.	.	T	0.54208	0.1844	N	0.02539	-0.55	0.09310	N	1	B	0.33198	0.401	B	0.29785	0.107	T	0.54241	-0.8323	9	0.02654	T	1	4.1946	6.531	0.22326	0.0:0.7191:0.1851:0.0957	.	303	Q7L775	EPMIP_HUMAN	K	303	ENSP00000406027:E303K	ENSP00000406027:E303K	E	-	1	0	0	EPM2AIP1	37008666	37008666	0.632000	0.27172	0.747000	0.31113	0.992000	0.81027	1.580000	0.36547	1.210000	0.43336	0.557000	0.71058	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.221884	1	0.170000	NM_014805			31	31		328	324	0		1	0		0	0	69	0		1	5.340079e-01	0	1	0	19	0	31	328
MLH1	4292	broad.mit.edu	37	3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000231790.2	+	7	785	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000455445.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	190					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)		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						AATGCAGGCATTAGTTTCTCA	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																													ENST00000231790.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec	yes	Hereditary non-polyposis colorectal cancer, Turcot syndrome	3	3p21.3	3p21.3	4292	D, Mis, N, F, S	E.coli MutL homolog gene				"""E, O"""	E, O		colorectal, endometrial, ovarian, CNS	colorectal, endometrial, ovarian, CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	127						c.(568-570)aTt>aCt	Mismatch excision repair (MMR)	mutL homolog 1							194.0	208.0	204.0					3																	37053334		2203	4300	6503	SO:0001583	missense	4292	0	0		Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr3:37053334T>C	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.569T>C	chr3.hg19:g.37053334T>C	ENSP00000231790:p.Ile190Thr	0					MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR	p.I190T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	1	2	3	1.998468	P40692	MLH1_HUMAN		7	785	+			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	1	1	hg19	c.569T>C	CCDS2663.1	1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580974	0.46006	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.118924	0.64402	D	0.000017	D	0.90549	0.7038	M	0.76170	2.325	0.80722	D	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.17098	0.011;0.011;0.017	D	0.87158	0.2213	10	0.46703	T	0.11	-19.4156	16.3662	0.83325	0.0:0.0:0.0:1.0	.	92;190;190	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	T	190;156;156;54;92	ENSP00000231790:I190T;ENSP00000402564:I92T	ENSP00000231790:I190T	I	+	2	0	0	MLH1	37028338	37028338	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	1	0	1		2	2	2	0		0	0	218		218	216	1	2.060000	-20.000000	1	0.170000	NM_000249			244	239		856	841	1		1	1	1	0	0	218	601		1	9.999969e-01	1	17	114	47	621	244	856
VILL	50853	broad.mit.edu	37	3	38047333	38047333	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A			O15195	VILL_HUMAN	villin-like	667					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCGGTGGCCTGGGGCCAGG	0.642																																						ENST00000283713.6	1.000000	0.180000	4.100000e-01	2.400000e-01	0.310000	0.356081	0.310000	0.300000																										0				28						c.(1999-2001)gcC>gcT		villin-like							74.0	80.0	78.0					3																	38047333		2203	4300	6503	SO:0001819	synonymous_variant	50853	0	0					g.chr3:38047333C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2001C>T	chr3.hg19:g.38047333C>T		0					VILL_ENST00000465644.1_Silent_p.A385A|VILL_ENST00000383759.2_Silent_p.A667A	p.A667A			1	2	3	1.998468	O15195	VILL_HUMAN		17	2267	+			A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	1	1	hg19	c.2001C>T	CCDS2670.2	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	0	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-2.838345	1	0.170000	NM_015873			17	17		646	631	0		1	1		0	0	97	0		9.999577e-01	9.983121e-01	0	25	0	366	0	17	646
VILL	50853	broad.mit.edu	37	3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*			O15195	VILL_HUMAN	villin-like	772					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657																																						ENST00000283713.6	1.000000	0.280000	6.300000e-01	3.600000e-01	0.470000	0.512648	0.470000	0.460000																										0				28						c.(2314-2316)Cga>Tga		villin-like							34.0	41.0	39.0					3																	38048048		2202	4298	6500	SO:0001587	stop_gained	50853	1	121394	32				g.chr3:38048048C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2314C>T	chr3.hg19:g.38048048C>T	ENSP00000283713:p.Arg772*	0					VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*|VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*	p.R772*			1	2	3	1.998468	O15195	VILL_HUMAN		19	2580	+			A8MZP1|Q9BT80|Q9BWH7	Nonsense_Mutation	SNP	ENST00000283713.6	0	1	hg19	c.2314C>T	CCDS2670.2	0	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730392	0.69074	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	3.14	3.14	0.36123	3.14	3.14	0.36123	.	4.268040	0.00846	N	0.001781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	2.6977	10.0336	0.42116	0.0:1.0:0.0:0.0	.	.	.	.	X	772;772;758;490	.	ENSP00000283713:R772X	R	+	1	2	2	VILL	38023052	38023052	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.079000	0.11357	2.090000	0.63153	0.462000	0.41574	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.371861	1	0.170000	NM_015873			16	16		393	388	0		1	1		0	0	76	0		9.999297e-01	9.996563e-01	0	7	0	320	0	16	393
PLCD1	5333	broad.mit.edu	37	3	38050075	38050075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000334661.4	-	12	1998	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.R613R	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	592	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			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)		TGTCCTGGAAGCGGCCCTGGT	0.667																																						ENST00000334661.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				24						c.(1774-1776)cgC>cgT		phospholipase C, delta 1							57.0	61.0	59.0					3																	38050075		2203	4300	6503	SO:0001819	synonymous_variant	5333	0	0					g.chr3:38050075G>A		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.1776C>T	chr3.hg19:g.38050075G>A		0					PLCD1_ENST00000463876.1_Silent_p.R613R|PLCD1_ENST00000479619.1_5'Flank	p.R592R	NM_006225.3	NP_006216.2	1	2	3	1.998468	P51178	PLCD1_HUMAN		12	1998	-			B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	1	1	hg19	c.1776C>T	CCDS2671.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				41	41		221	219	1		1	1		0	0	60	0		1	9.894375e-01	0	5	0	36	0	41	221
DLEC1	9940	broad.mit.edu	37	3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E					deleted in lung and esophageal cancer 1											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)		TTTTCACAGATTATGAAATTG	0.378																																						ENST00000308059.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1147-1149)gaT>gaA		deleted in lung and esophageal cancer 1							173.0	163.0	166.0					3																	38105386		1835	4090	5925	SO:0001583	missense	9940	0	0					g.chr3:38105386T>A	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.1149T>A	chr3.hg19:g.38105386T>A	ENSP00000308597:p.Asp383Glu	0					DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E	p.D383E			1	2	3	1.998468				6	1170	+				Missense_Mutation	SNP	ENST00000308059.6	1	1	hg19	c.1149T>A	CCDS2672.2	1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471952	0.43942	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06608	3.29;3.28;3.51	4.67	3.52	0.40303	4.67	3.52	0.40303	.	0.104304	0.64402	D	0.000006	T	0.07773	0.0195	L	0.53249	1.67	0.42793	D	0.993903	P;P;P;P	0.47604	0.811;0.898;0.735;0.898	B;B;B;B	0.43658	0.331;0.426;0.331;0.426	T	0.31779	-0.9931	10	0.33940	T	0.23	-13.2537	6.7698	0.23587	0.0:0.1057:0.0:0.8943	.	383;383;383;383	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	E	383	ENSP00000308597:D383E;ENSP00000315914:D383E;ENSP00000410427:D383E	ENSP00000308597:D383E	D	+	3	2	2	DLEC1	38080390	38080390	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.526000	0.22971	0.813000	0.34350	0.528000	0.53228	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_007337			137	134		598	588	1		1	0		0	0	103	0		1	3.526712e-02	0	0	0	2	0	137	598
DLEC1	9940	broad.mit.edu	37	3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H					deleted in lung and esophageal cancer 1											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)		CCACAAGCCAGGACCTGCTGT	0.582																																						ENST00000308059.6	1.000000	0.580000	1	7.300000e-01	0.900000	0.879844	0.900000	1.000000																										0				51						c.(2497-2499)caG>caT		deleted in lung and esophageal cancer 1							50.0	54.0	53.0					3																	38139062		1969	4162	6131	SO:0001583	missense	9940	0	0					g.chr3:38139062G>T	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.2499G>T	chr3.hg19:g.38139062G>T	ENSP00000308597:p.Gln833His	0					DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H	p.Q833H			1	2	3	1.998468				17	2520	+				Missense_Mutation	SNP	ENST00000308059.6	1	1	hg19	c.2499G>T	CCDS2672.2	1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707812	0.30322	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.72	5.06	4.12	0.48240	5.06	4.12	0.48240	.	0.751776	0.12452	U	0.467648	T	0.07188	0.0182	L	0.48642	1.525	0.26044	N	0.981565	B;B;B	0.25351	0.124;0.071;0.124	B;B;B	0.21360	0.034;0.03;0.031	T	0.12993	-1.0526	10	0.35671	T	0.21	-6.1338	9.7481	0.40459	0.0:0.1505:0.6946:0.1548	.	833;833;833	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	833	ENSP00000308597:Q833H;ENSP00000315914:Q833H;ENSP00000410427:Q833H	ENSP00000308597:Q833H	Q	+	3	2	2	DLEC1	38114066	38114066	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.496000	0.35638	2.357000	0.79964	0.558000	0.71614	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_007337			22	21		270	264	0		1	0		0	0	54	0		9.999987e-01	0	0	0	0	1	0	22	270
DLEC1	9940	broad.mit.edu	37	3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K					deleted in lung and esophageal cancer 1											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)		GACCGTCCTGGAGCTGGAGGT	0.522																																						ENST00000308059.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2836-2838)Gag>Aag		deleted in lung and esophageal cancer 1							66.0	69.0	68.0					3																	38141888		1999	4157	6156	SO:0001583	missense	9940	0	0					g.chr3:38141888G>A	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.2836G>A	chr3.hg19:g.38141888G>A	ENSP00000308597:p.Glu946Lys	0					DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K	p.E946K			1	2	3	1.998468				19	2857	+				Missense_Mutation	SNP	ENST00000308059.6	1	1	hg19	c.2836G>A	CCDS2672.2	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031665	0.75504	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.68	3.8	0.43715	4.68	3.8	0.43715	.	0.134395	0.48286	D	0.000192	T	0.13798	0.0334	M	0.72894	2.215	0.38794	D	0.95504	P;P;D;P	0.58268	0.897;0.744;0.982;0.897	P;B;P;P	0.55055	0.625;0.196;0.767;0.625	T	0.18241	-1.0343	10	0.06891	T	0.86	-11.375	12.2875	0.54800	0.0861:0.0:0.9139:0.0	.	946;946;946;946	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	946	ENSP00000308597:E946K;ENSP00000315914:E946K;ENSP00000410427:E946K	ENSP00000308597:E946K	E	+	1	0	0	DLEC1	38116892	38116892	1.000000	0.71417	0.947000	0.38551	0.747000	0.42532	4.466000	0.60148	1.087000	0.41251	0.467000	0.42956	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_007337			88	88		400	391	1		1			0	0	80	0		1	0	0	0	0	0	0	88	400
DLEC1	9940	broad.mit.edu	37	3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A					deleted in lung and esophageal cancer 1											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)		TTCAGCCATGAAACTGACTCA	0.627																																						ENST00000308059.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(4048-4050)gAa>gCa		deleted in lung and esophageal cancer 1							57.0	57.0	57.0					3																	38158136		1949	4133	6082	SO:0001583	missense	9940	0	0					g.chr3:38158136A>C	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.4049A>C	chr3.hg19:g.38158136A>C	ENSP00000308597:p.Glu1350Ala	0					DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A	p.E1350A			1	2	3	1.998468				28	4070	+				Missense_Mutation	SNP	ENST00000308059.6	1	1	hg19	c.4049A>C	CCDS2672.2	1	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227715	0.06022	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05447	3.46;3.44;3.68	4.65	0.865	0.19074	4.65	0.865	0.19074	.	1.823620	0.02868	N	0.131149	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.09084	T	0.74	0.0041	6.243	0.20801	0.4328:0.456:0.1112:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1350;1350;1353	ENSP00000308597:E1350A;ENSP00000315914:E1350A;ENSP00000410427:E1353A	ENSP00000308597:E1350A	E	+	2	0	0	DLEC1	38133140	38133140	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.352000	0.20113	0.302000	0.22762	0.260000	0.18958	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1		2	2	2	0		0	0	104		104	90	1	2.060000	-20.000000	1	0.170000	NM_007337			97	94		405	380	1		1			0	0	104	0		1	0	0	0	0	0	0	97	405
ACAA1	30	broad.mit.edu	37	3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000480865.1_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	93					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)			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)		GCCCCAGGCTGCAGCACATTT	0.512																																						ENST00000333167.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(277-279)Cag>Tag		acetyl-CoA acyltransferase 1							64.0	66.0	65.0					3																	38175489		2203	4300	6503	SO:0001587	stop_gained	30	0	0					g.chr3:38175489G>A	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.277C>T	chr3.hg19:g.38175489G>A	ENSP00000333664:p.Gln93*	0					ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR	p.Q93*	NM_001607.3	NP_001598.1	1	2	3	1.998468	P09110	THIK_HUMAN		3	449	-			G5E935|Q96CA6	Nonsense_Mutation	SNP	ENST00000333167.8	0	1	hg19	c.277C>T	CCDS2673.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.620698	0.97709	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.128735	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.4369	19.5262	0.95208	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;25;93	.	ENSP00000301810:Q93X	Q	-	1	0	0	ACAA1	38150493	38150493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.778000	0.95560	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_001607			61	60		231	228	0		1	1		0	0	60	0		1	1	0	7	0	126	0	61	231
OXSR1	9943	broad.mit.edu	37	3	38292919	38292919	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478																																						ENST00000311806.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(1399-1401)gaA>gaG		oxidative stress responsive 1							326.0	292.0	304.0					3																	38292919		2203	4300	6503	SO:0001819	synonymous_variant	9943	0	0					g.chr3:38292919A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1401A>G	chr3.hg19:g.38292919A>G		0						p.E467E	NM_005109.2	NP_005100.1	1	2	3	1.998468				16	1773	+				Silent	SNP	ENST00000311806.3	1	1	hg19	c.1401A>G	CCDS2675.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	1	0	1		2	2	2	0		0	0	238		238	237	1	2.060000	-20.000000	1	0.170000	NM_005109			230	228		945	931	0		1	1		0	0	238	0		1	1	0	35	0	91	0	230	945
SLC22A13	9390	broad.mit.edu	37	3	38317516	38317516	+	Missense_Mutation	SNP	G	G	A	rs200323612	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38317516G>A	ENST00000311856.4	+	7	1215	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	389					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)			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)		AGGTTTGGCCGCAAGTGGAGC	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19302	0.002		0.0	False		,,,				2504	0.0					ENST00000311856.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				20						c.(1165-1167)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13							83.0	61.0	69.0					3																	38317516		2203	4300	6503	SO:0001583	missense	9390	8	121412	35				g.chr3:38317516G>A	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.1166G>A	chr3.hg19:g.38317516G>A	ENSP00000310241:p.Arg389His	0					SLC22A13_ENST00000450935.2_3'UTR	p.R389H	NM_004256.3	NP_004247.2	1	2	3	1.998468	Q9Y226	S22AD_HUMAN		7	1215	+			B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	1	0	hg19	c.1166G>A	CCDS2676.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.2	4.712305	0.89112	.	.	ENSG00000172940	ENST00000311856	D	0.84070	-1.8	5.16	5.16	0.70880	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95267	0.8374	10	0.87932	D	0	.	18.0286	0.89276	0.0:0.0:1.0:0.0	.	389;389	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	389	ENSP00000310241:R389H	ENSP00000310241:R389H	R	+	2	0	0	SLC22A13	38292520	38292520	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.849000	0.69465	2.582000	0.87167	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-2.864948	1	0.170000	NM_004256			29	29		148	146	1		1			0	0	38	0		1	0	0	0	0	0	0	29	148
XYLB	9942	broad.mit.edu	37	3	38408309	38408309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	ENST00000207870.3	+	7	608	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	173					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CGTTTTACAGGGAACCAAATT	0.393																																						ENST00000207870.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(517-519)gGg>gAg		xylulokinase homolog (H. influenzae)							80.0	81.0	81.0					3																	38408309		2203	4300	6503	SO:0001583	missense	9942	0	0					g.chr3:38408309G>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.518G>A	chr3.hg19:g.38408309G>A	ENSP00000207870:p.Gly173Glu	0					XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	p.G173E	NM_005108.3	NP_005099.2	1	2	3	1.998468	O75191	XYLB_HUMAN		7	608	+			B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	0	1	hg19	c.518G>A	CCDS2678.1	1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.716084	0.89205	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	5.43	5.43	0.79202	Carbohydrate kinase, FGGY, N-terminal (1);	0.061528	0.64402	D	0.000003	T	0.76535	0.4001	M	0.92970	3.365	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82196	-0.0577	10	0.87932	D	0	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	36;173	B4DDT2;O75191	.;XYLB_HUMAN	E	173;36	ENSP00000207870:G173E;ENSP00000443659:G36E	ENSP00000207870:G173E	G	+	2	0	0	XYLB	38383313	38383313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.727000	0.93392	0.550000	0.68814	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	0	0	0		17	2	2	1		1	1	59		59	59	1	2.060000	-2.934629	1	0.170000	NM_005108			49	48		262	257	0		1	1		1	0	59	0		9.999909e-01	2.473574e-01	0	2	0	4	0	49	262
ACVR2B	93	broad.mit.edu	37	3	38524754	38524754	+	Silent	SNP	G	G	A	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	490					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		12203	0.0		0.001	False		,,,				2504	0.0					ENST00000352511.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(1468-1470)tcG>tcA		activin A receptor, type IIB		G		1,4405	2.1+/-5.4	0,1,2202	181.0	151.0	161.0		1470	4.2	1.0	3	dbSNP_127	161	0,8600		0,0,4300	no	coding-synonymous	ACVR2B	NM_001106.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		490/513	38524754	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93	4	121412	43				g.chr3:38524754G>A	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1470G>A	chr3.hg19:g.38524754G>A		0						p.S490S	NM_001106.3	NP_001097.2	1	2	3	1.998468	Q13705	AVR2B_HUMAN		11	1942	+	Medulloblastoma(35;0.163)		Q4VAV0	Silent	SNP	ENST00000352511.4	1	1	hg19	c.1470G>A	CCDS2679.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.849633	1	0.170000	NM_001106			111	111		434	425	1		1	1		0	0	88	0		1	8.390408e-01	0	5	0	10	0	111	434
SCN5A	6331	broad.mit.edu	37	3	38595864	38595864	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000333535.4	-	27	4868	c.4719C>T	c.(4717-4719)ggC>ggT	p.G1573G	SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000464652.1_5'UTR			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1573					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)			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)	CAATACACTCGCCTGTGAAGA	0.498																																						ENST00000333535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(4717-4719)ggC>ggT		sodium channel, voltage-gated, type V, alpha subunit	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)						146.0	158.0	154.0					3																	38595864		2118	4257	6375	SO:0001819	synonymous_variant	6331	1	121114	28				g.chr3:38595864G>A	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.4719C>T	chr3.hg19:g.38595864G>A		0					SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000414099.2_Silent_p.G1555G	p.G1573G			1	2	3	1.998468	Q14524	SCN5A_HUMAN		27	4868	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	1	1	hg19	c.4719C>T	CCDS46796.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028857	0.35797	.	.	ENSG00000183873	ENST00000455624	.	.	.	3.69	2.79	0.32731	3.69	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0242	0.09680	0.0946:0.1736:0.5766:0.1552	.	.	.	.	.	-1	.	.	.	-	.	.	.	SCN5A	38570868	38570868	0.398000	0.25279	1.000000	0.80357	0.910000	0.53928	0.158000	0.16422	0.736000	0.32559	0.462000	0.41574	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_198056			78	74		326	323	1		1			0	0	89	0		1	0	0	0	0	0	0	78	326
SCN5A	6331	broad.mit.edu	37	3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A	rs199473603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000333535.4	-	22	4060	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1304			T -> M (in LQT3). {ECO:0000269|PubMed:10508990}.		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)			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)	TGCACGCAGCGTCCGCAGTGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		21383	0.0		0.001	False		,,,				2504	0.0					ENST00000333535.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998618	0.990000	1.000000																										0				107	GRCh37	CM992663	SCN5A	M		c.(3910-3912)aCg>aTg		sodium channel, voltage-gated, type V, alpha subunit	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)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4175		0,1,2087	41.0	44.0	43.0		3908,3911,3911,3908,3749,3911	4.0	0.9	3		43	4,8464		0,4,4230	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	81,81,81,81,81,81	0,5,6317	AA,AG,GG		0.0472,0.0239,0.0395	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/2016,1304/2017,1304/1999,1303/1984,1250/1963,1304/2017	38603958	5,12639	2088	4234	6322	SO:0001583	missense	6331	25	121042	45				g.chr3:38603958G>A	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.3911C>T	chr3.hg19:g.38603958G>A	ENSP00000328968:p.Thr1304Met	0					SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M	p.T1304M			1	2	3	1.998468	Q14524	SCN5A_HUMAN		22	4060	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	1	1	hg19	c.3911C>T	CCDS46796.1	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001180	0.54254	2.39E-4	4.72E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.04	4.04	0.47022	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94503	3.545	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.988	D	0.98908	1.0779	10	0.87932	D	0	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	1250;1303;1304;1304;1304;1303;1304	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1304;1303;1304;1250;1303;1304;1304;1303;1250;1250	ENSP00000398962:T1304M;ENSP00000398266:T1303M;ENSP00000410257:T1304M;ENSP00000388797:T1250M;ENSP00000397915:T1303M;ENSP00000416634:T1304M;ENSP00000328968:T1304M;ENSP00000399524:T1303M;ENSP00000403355:T1250M;ENSP00000413996:T1250M	ENSP00000328968:T1304M	T	-	2	0	0	SCN5A	38578962	38578962	1.000000	0.71417	0.890000	0.34922	0.068000	0.16541	9.657000	0.98554	2.105000	0.64084	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-4.198417	1	0.170000	NM_198056			18	16		108	108	1		1			0	0	26	0		9.999870e-01	0	0	0	0	0	0	18	108
SCN5A	6331	broad.mit.edu	37	3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000333535.4	-	20	3813	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1222					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)			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)	GAGGGTACCAGCGCTCCACTG	0.587																																						ENST00000333535.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.996658	0.990000	1.000000																										0				107						c.(3664-3666)Ctg>Atg		sodium channel, voltage-gated, type V, alpha subunit	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)						37.0	39.0	38.0					3																	38616790		2203	4300	6503	SO:0001583	missense	6331	0	0					g.chr3:38616790G>T	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.3664C>A	chr3.hg19:g.38616790G>T	ENSP00000328968:p.Leu1222Met	0					SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M	p.L1222M			1	2	3	1.998468	Q14524	SCN5A_HUMAN		20	3813	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	1	1	hg19	c.3664C>A	CCDS46796.1	1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900162	0.72754	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.165085	0.41938	D	0.000789	D	0.98704	0.9565	M	0.86268	2.805	0.47476	D	0.999433	D;D;P;P;D;D;D	0.76494	0.991;0.994;0.942;0.699;0.999;0.998;0.983	D;P;P;B;D;D;P	0.77557	0.972;0.832;0.805;0.425;0.974;0.99;0.865	D	0.99647	1.0990	10	0.87932	D	0	.	16.7305	0.85433	0.0:0.0:1.0:0.0	.	1168;1221;1222;1222;1222;1221;1222	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1222;1221;1222;1168;1221;1222;1222;1221;1168;1168	ENSP00000398962:L1222M;ENSP00000398266:L1221M;ENSP00000410257:L1222M;ENSP00000388797:L1168M;ENSP00000397915:L1221M;ENSP00000416634:L1222M;ENSP00000328968:L1222M;ENSP00000399524:L1221M;ENSP00000403355:L1168M;ENSP00000413996:L1168M	ENSP00000328968:L1222M	L	-	1	2	2	SCN5A	38591794	38591794	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.586000	0.74067	2.356000	0.79943	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	20		20	18	1	2.060000	-19.976740	1	0.170000	NM_198056			12	12		67	64	1		1	0		0	0	20	0		9.991993e-01	2.740139e-02	0	0	0	2	0	12	67
SCN5A	6331	broad.mit.edu	37	3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000333535.4	-	17	3228	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1027			R -> Q. {ECO:0000269|PubMed:1309946, ECO:0000269|PubMed:16616735, ECO:0000269|Ref.6}.		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)			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)	TCCTCAAACCGTGTTTCCTTG	0.667																																						ENST00000333535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3079-3081)Cgg>Tgg		sodium channel, voltage-gated, type V, alpha subunit	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)						32.0	33.0	32.0					3																	38622571		1999	4159	6158	SO:0001583	missense	6331	0	0					g.chr3:38622571G>A	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.3079C>T	chr3.hg19:g.38622571G>A	ENSP00000328968:p.Arg1027Trp	0					SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W	p.R1027W			1	2	3	1.998468	Q14524	SCN5A_HUMAN		17	3228	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	1	1	hg19	c.3079C>T	CCDS46796.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956688	0.34565	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.12	1.9	0.25705	5.12	1.9	0.25705	Sodium ion transport-associated (1);	1.256210	0.05875	N	0.625338	D	0.88916	0.6567	L	0.59436	1.845	0.09310	N	1	B;D;D;D;D;D;D	0.89917	0.027;0.999;1.0;1.0;1.0;0.999;1.0	B;D;D;D;D;P;D	0.81914	0.019;0.96;0.992;0.995;0.981;0.837;0.967	T	0.73116	-0.4084	10	0.72032	D	0.01	.	8.8191	0.35014	0.0748:0.0:0.4916:0.4336	.	1027;1027;1027;1027;1027;1027;1027	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1027	ENSP00000398962:R1027W;ENSP00000398266:R1027W;ENSP00000410257:R1027W;ENSP00000388797:R1027W;ENSP00000397915:R1027W;ENSP00000416634:R1027W;ENSP00000328968:R1027W;ENSP00000399524:R1027W;ENSP00000403355:R1027W;ENSP00000413996:R1027W	ENSP00000328968:R1027W	R	-	1	2	2	SCN5A	38597575	38597575	0.000000	0.05858	0.484000	0.27391	0.419000	0.31324	0.408000	0.21065	0.529000	0.28599	0.561000	0.74099	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_198056			40	40		136	132	1		1	0		0	0	30	0		1	0	0	0	0	1	0	40	136
SCN5A	6331	broad.mit.edu	37	3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000333535.4	-	17	2995	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	949					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)			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)	CTCATCAGGGGCTGTGAGGTT	0.582																																						ENST00000333535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(2845-2847)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	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)						36.0	39.0	38.0					3																	38622804		2122	4259	6381	SO:0001583	missense	6331	0	0					g.chr3:38622804G>A	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.2846C>T	chr3.hg19:g.38622804G>A	ENSP00000328968:p.Ala949Val	0					SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V	p.A949V			1	2	3	1.998468	Q14524	SCN5A_HUMAN		17	2995	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	1	1	hg19	c.2846C>T	CCDS46796.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543967	0.86022	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96716	-4.01;-4.04;-4.04;-4.02;-4.04;-4.01;-4.04;-4.1;-4.02;-4.02	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996;1.0	D;D;D;D;D;P;D	0.85130	0.994;0.985;0.997;0.994;0.994;0.834;0.997	D	0.98974	1.0802	10	0.62326	D	0.03	.	17.6188	0.88075	0.0:0.0:1.0:0.0	.	949;949;949;949;949;949;949	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	949	ENSP00000398962:A949V;ENSP00000398266:A949V;ENSP00000410257:A949V;ENSP00000388797:A949V;ENSP00000397915:A949V;ENSP00000416634:A949V;ENSP00000328968:A949V;ENSP00000399524:A949V;ENSP00000403355:A949V;ENSP00000413996:A949V	ENSP00000328968:A949V	A	-	2	0	0	SCN5A	38597808	38597808	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.500000	0.73687	2.399000	0.81585	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_198056			31	29		92	89	1		1			0	0	25	0		1	0	0	0	0	0	0	31	92
SCN5A	6331	broad.mit.edu	37	3	38639378	38639378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000333535.4	-	14	2253	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	702					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)			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)	GACATCCACAGCGGGCAGCAC	0.557																																						ENST00000333535.4	1.000000	0.160000	4.200000e-01	2.200000e-01	0.300000	0.351761	0.300000	0.290000																										0				107						c.(2104-2106)Ctg>Ttg		sodium channel, voltage-gated, type V, alpha subunit	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)						131.0	135.0	134.0					3																	38639378		2147	4255	6402	SO:0001819	synonymous_variant	6331	0	0					g.chr3:38639378G>A	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.2104C>T	chr3.hg19:g.38639378G>A		0					SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L	p.L702L			1	2	3	1.998468	Q14524	SCN5A_HUMAN		14	2253	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	1	1	hg19	c.2104C>T	CCDS46796.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.475589	1	0.170000	NM_198056			12	12		472	465	0		1	0		0	0	99	0		9.990552e-01	0	0	0	0	1	0	12	472
SCN5A	6331	broad.mit.edu	37	3	38645261	38645261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38645261G>A	ENST00000333535.4	-	12	1981	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	611					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)			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)	TGGGGATGTGGCCTCTGGGTC	0.647																																						ENST00000333535.4	1.000000	0.090000	3.400000e-01	1.500000e-01	0.220000	0.276608	0.220000	0.210000																										0				107						c.(1831-1833)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	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)						46.0	50.0	48.0					3																	38645261		2055	4201	6256	SO:0001583	missense	6331	0	0					g.chr3:38645261G>A	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.1832C>T	chr3.hg19:g.38645261G>A	ENSP00000328968:p.Ala611Val	0					SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V	p.A611V			1	2	3	1.998468	Q14524	SCN5A_HUMAN		12	1981	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	0	1	hg19	c.1832C>T	CCDS46796.1	0	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919858	0.33908	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.18	4.18	0.49190	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.829884	0.10873	N	0.624714	D	0.87341	0.6153	L	0.34521	1.04	0.35038	D	0.759426	B;P;B;B;P;P;P	0.44627	0.042;0.684;0.137;0.042;0.631;0.688;0.839	B;B;B;B;B;B;B	0.43536	0.062;0.423;0.085;0.098;0.328;0.218;0.423	D	0.85654	0.1284	10	0.18276	T	0.48	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	611;611;611;611;611;611;611	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	611	ENSP00000398962:A611V;ENSP00000398266:A611V;ENSP00000410257:A611V;ENSP00000388797:A611V;ENSP00000397915:A611V;ENSP00000416634:A611V;ENSP00000328968:A611V;ENSP00000399524:A611V;ENSP00000403355:A611V;ENSP00000413996:A611V	ENSP00000328968:A611V	A	-	2	0	0	SCN5A	38620265	38620265	1.000000	0.71417	0.992000	0.48379	0.667000	0.39255	7.334000	0.79224	2.164000	0.68074	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-6.890271	1	0.170000	NM_198056			7	7		391	386	0		1			0	0	64	0		9.797466e-01	0	0	0	0	0	0	7	391
SCN5A	6331	broad.mit.edu	37	3	38647544	38647544	+	Silent	SNP	G	G	A	rs45565936	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000333535.4	-	10	1385	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	412					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)			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)	AGGCCATTGCGACCACGGCCA	0.542													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.0					ENST00000333535.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1234-1236)gtC>gtT		sodium channel, voltage-gated, type V, alpha subunit	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)	G	,,,,,	25,4115		0,25,2045	80.0	84.0	83.0		1236,1236,1236,1236,1236,1236	-6.6	0.9	3	dbSNP_127	83	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,25,6251	AA,AG,GG		0.0,0.6039,0.1992	,,,,,	412/2016,412/2017,412/1999,412/1984,412/1963,412/2017	38647544	25,12527	2070	4206	6276	SO:0001819	synonymous_variant	6331	46	121004	49				g.chr3:38647544G>A	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.1236C>T	chr3.hg19:g.38647544G>A		0					SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V	p.V412V			1	2	3	1.998468	Q14524	SCN5A_HUMAN		10	1385	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	1	1	hg19	c.1236C>T	CCDS46796.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.236967	1	0.170000	NM_198056			75	75		236	231	1		1	0		0	0	82	0		1	0	0	0	0	1	0	75	236
SCN10A	6336	broad.mit.edu	37	3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1636					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)			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)	GTCGATGCCAGCCTCCCACCT	0.562																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(4906-4908)gCt>gTt		sodium channel, voltage-gated, type X, alpha subunit	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)						178.0	165.0	169.0					3																	38739804		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38739804G>A	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.4907C>T	chr3.hg19:g.38739804G>A	ENSP00000390600:p.Ala1636Val	0						p.A1636V	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		27	4906	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.4907C>T	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696607	0.48202	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	5.27	5.27	0.74061	5.27	5.27	0.74061	Ion transport (1);	0.192153	0.42964	D	0.000638	D	0.95689	0.8598	L	0.49640	1.575	0.38361	D	0.944602	P	0.42827	0.791	B	0.40066	0.318	D	0.93623	0.6949	10	0.20519	T	0.43	.	8.7982	0.34892	0.0786:0.0:0.7599:0.1615	.	1636	Q9Y5Y9	SCNAA_HUMAN	V	1636	ENSP00000390600:A1636V	ENSP00000390600:A1636V	A	-	2	0	0	SCN10A	38714808	38714808	0.052000	0.20516	0.985000	0.45067	0.640000	0.38277	0.683000	0.25349	2.742000	0.94016	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-20.000000	1	0.170000	NM_006514			151	146		606	596	1		1			0	0	152	0		1	0	0	0	0	0	0	151	606
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					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)			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)	TCTGAGGATGCGGCCAATTCG	0.522																																						ENST00000449082.2	1.000000	0.280000	5.500000e-01	3.500000e-01	0.430000	0.473660	0.430000	0.430000																										0				150						c.(4744-4746)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	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)						92.0	90.0	91.0					3																	38739966		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38739966C>T	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.4745G>A	chr3.hg19:g.38739966C>T	ENSP00000390600:p.Arg1582His	0						p.R1582H	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		27	4744	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.4745G>A	CCDS33736.1	0	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	0	SCN10A	38714970	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	0	0	1		2	2	2	1		1	0	100		100	97	1	2.060000	-2.950232	1	0.170000	NM_006514			23	22		612	604	0		1			1	0	100	0		9.999992e-01	0	0	0	0	0	0	23	612
SCN10A	6336	broad.mit.edu	37	3	38752374	38752374	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1368					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)			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)	TGTCCATCCAGCCTTTAAAGG	0.542																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998049	0.990000	1.000000																										0				150						c.(4102-4104)ggC>ggT		sodium channel, voltage-gated, type X, alpha subunit	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)						102.0	87.0	92.0					3																	38752374		2203	4300	6503	SO:0001819	synonymous_variant	6336	0	0					g.chr3:38752374G>A	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.4104C>T	chr3.hg19:g.38752374G>A		0						p.G1368G	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		23	4103	-			A6NDQ1	Silent	SNP	ENST00000449082.2	1	1	hg19	c.4104C>T	CCDS33736.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_006514			17	15		104	102	1		1			0	0	32	0		9.999699e-01	0	0	0	0	0	0	17	104
SCN10A	6336	broad.mit.edu	37	3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1340					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)			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)	CCAGAAGAAGCTGCCAGTGGA	0.428																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(4018-4020)aGc>aAc		sodium channel, voltage-gated, type X, alpha subunit	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)						119.0	116.0	117.0					3																	38753722		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38753722C>T	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.4019G>A	chr3.hg19:g.38753722C>T	ENSP00000390600:p.Ser1340Asn	0						p.S1340N	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		22	4018	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.4019G>A	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522538	0.13066	.	.	ENSG00000185313	ENST00000449082	D	0.98493	-4.96	4.37	-6.51	0.01878	4.37	-6.51	0.01878	Ion transport (1);	1.098550	0.06870	N	0.800618	D	0.86171	0.5869	N	0.00191	-1.88	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	D	0.83562	0.0107	10	0.21540	T	0.41	.	6.5023	0.22176	0.0:0.2823:0.3314:0.3862	.	1340	Q9Y5Y9	SCNAA_HUMAN	N	1340	ENSP00000390600:S1340N	ENSP00000390600:S1340N	S	-	2	0	0	SCN10A	38728726	38728726	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.875000	0.01634	-1.092000	0.03062	-0.378000	0.06908	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_006514			82	81		465	451	1		1			0	0	105	0		1	0	0	0	0	0	0	82	465
SCN10A	6336	broad.mit.edu	37	3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1135					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)			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)	AGCCCACATCCCATGGACTCT	0.562																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(3403-3405)tgG>tgA		sodium channel, voltage-gated, type X, alpha subunit	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)						167.0	142.0	151.0					3																	38763851		2203	4300	6503	SO:0001587	stop_gained	6336	2	121412	37				g.chr3:38763851C>T	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.3405G>A	chr3.hg19:g.38763851C>T	ENSP00000390600:p.Trp1135*	0						p.W1135*	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		19	3404	-			A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	0	1	hg19	c.3405G>A	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.873866	0.97901	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	3.29	0.37713	4.27	3.29	0.37713	.	0.491076	0.21418	N	0.074877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.4099	0.16342	0.0:0.635:0.2138:0.1512	.	.	.	.	X	1135	.	ENSP00000390600:W1135X	W	-	3	0	0	SCN10A	38738855	38738855	0.124000	0.22315	0.278000	0.24718	0.150000	0.21749	0.365000	0.20348	2.221000	0.72209	0.561000	0.74099	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-2.894478	1	0.170000	NM_006514			107	105		488	477	1		1			0	0	149	0		1	0	0	0	0	0	0	107	488
SCN10A	6336	broad.mit.edu	37	3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1028					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)			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)	CTTACCTGTCCTTTGGGGATC	0.542																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(3082-3084)Gga>Tga		sodium channel, voltage-gated, type X, alpha subunit	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)						72.0	62.0	66.0					3																	38768102		2203	4300	6503	SO:0001587	stop_gained	6336	0	0					g.chr3:38768102C>A	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.3082G>T	chr3.hg19:g.38768102C>A	ENSP00000390600:p.Gly1028*	0						p.G1028*	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		16	3081	-			A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	0	1	hg19	c.3082G>T	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.820651	0.97861	.	.	ENSG00000185313	ENST00000449082	.	.	.	3.84	0.00718	0.14070	3.84	0.00718	0.14070	.	5.998850	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.2493	0.26140	0.0:0.4287:0.0:0.5713	.	.	.	.	X	1028	.	ENSP00000390600:G1028X	G	-	1	0	0	SCN10A	38743106	38743106	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	0.116000	0.15561	-0.014000	0.14175	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-3.308369	1	0.170000	NM_006514			53	50		215	211	0		1	0		0	0	35	0		1	0	0	0	0	1	0	53	215
SCN10A	6336	broad.mit.edu	37	3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	763					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)			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)	CAGCTTGAATACGCGCAGCTG	0.493																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(2287-2289)gTa>gCa		sodium channel, voltage-gated, type X, alpha subunit	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)						89.0	90.0	90.0					3																	38770385		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38770385A>G	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.2288T>C	chr3.hg19:g.38770385A>G	ENSP00000390600:p.Val763Ala	0						p.V763A	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		15	2287	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.2288T>C	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234726	0.79800	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	4.83	4.83	0.62350	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.85630	2.765	0.54753	D	0.999984	P	0.52170	0.951	P	0.48770	0.589	D	0.98897	1.0775	10	0.87932	D	0	.	14.5588	0.68120	1.0:0.0:0.0:0.0	.	763	Q9Y5Y9	SCNAA_HUMAN	A	763	ENSP00000390600:V763A	ENSP00000390600:V763A	V	-	2	0	0	SCN10A	38745389	38745389	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.083000	0.94067	2.028000	0.59812	0.533000	0.62120	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_006514			64	61		277	270	1		1			0	0	85	0		1	0	0	0	0	0	0	64	277
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	759					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)			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)	CATTACCAAGCGGAAGCTCCG	0.547																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(2275-2277)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	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)						51.0	48.0	49.0					3																	38781010		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38781010C>T	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.2276G>A	chr3.hg19:g.38781010C>T	ENSP00000390600:p.Arg759His	0						p.R759H	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		14	2275	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.2276G>A	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016405	0.93404	.	.	ENSG00000185313	ENST00000449082	D	0.98822	-5.16	4.19	4.19	0.49359	4.19	4.19	0.49359	Ion transport (1);	0.116150	0.53938	D	0.000044	D	0.99551	0.9839	H	0.99273	4.495	0.49798	D	0.999823	D	0.89917	1.0	D	0.91635	0.999	D	0.97485	1.0050	10	0.87932	D	0	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	759	Q9Y5Y9	SCNAA_HUMAN	H	759	ENSP00000390600:R759H	ENSP00000390600:R759H	R	-	2	0	0	SCN10A	38756014	38756014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.823000	0.69272	2.174000	0.68829	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.390257	1	0.170000	NM_006514			43	42		206	203	1		1			0	0	59	0		1	0	0	0	0	0	0	43	206
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					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.M712I(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)	TTTTGAAGACCATTTCAGCAG	0.433																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										1	Substitution - Missense(1)	p.M712I(1)	lung(1)	150						c.(2134-2136)atG>atA		sodium channel, voltage-gated, type X, alpha subunit	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)						59.0	56.0	57.0					3																	38781150		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38781150C>T	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.2136G>A	chr3.hg19:g.38781150C>T	ENSP00000390600:p.Met712Ile	0						p.M712I	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		14	2135	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.2136G>A	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530513	0.85706	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	0	SCN10A	38756154	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-2.847387	1	0.170000	NM_006514			40	40		233	231	1		1			0	0	58	0		1	0	0	0	0	0	0	40	233
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					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)			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)	ACCGAGACATCGACAGCTCCA	0.552																																						ENST00000449082.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				150						c.(1747-1749)Gat>Aat		sodium channel, voltage-gated, type X, alpha subunit	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)						129.0	128.0	128.0					3																	38793718		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38793718C>T	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.1747G>A	chr3.hg19:g.38793718C>T	ENSP00000390600:p.Asp583Asn	0						p.D583N	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		11	1746	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	1	1	hg19	c.1747G>A	CCDS33736.1	1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546846	0.27652	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.31	4.31	0.51392	4.31	4.31	0.51392	.	6.498510	0.00447	N	0.000092	D	0.90707	0.7084	N	0.08118	0	0.20403	N	0.9999	B	0.15930	0.015	B	0.08055	0.003	T	0.76974	-0.2760	10	0.35671	T	0.21	.	12.5849	0.56412	0.0:1.0:0.0:0.0	.	583	Q9Y5Y9	SCNAA_HUMAN	N	583	ENSP00000390600:D583N	ENSP00000390600:D583N	D	-	1	0	0	SCN10A	38768722	38768722	0.452000	0.25713	0.624000	0.29186	0.300000	0.27592	3.018000	0.49625	2.689000	0.91719	0.462000	0.41574	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_006514			62	60		350	346	1		1			0	0	88	0		1	0	0	0	0	0	0	62	350
SCN10A	6336	broad.mit.edu	37	3	38798295	38798295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38798295T>C	ENST00000449082.2	-	9	1159	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	387					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)			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)	GTTGACCAGGTAGAAAGATCC	0.453																																						ENST00000449082.2	1.000000	0.120000	3.100000e-01	1.700000e-01	0.220000	0.276965	0.220000	0.220000																										0				150						c.(1159-1161)tAc>tGc		sodium channel, voltage-gated, type X, alpha subunit	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)						138.0	136.0	137.0					3																	38798295		2203	4300	6503	SO:0001583	missense	6336	0	0					g.chr3:38798295T>C	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.1160A>G	chr3.hg19:g.38798295T>C	ENSP00000390600:p.Tyr387Cys	0						p.Y387C	NM_006514.2	NP_006505.2	1	2	3	1.998468	Q9Y5Y9	SCNAA_HUMAN		9	1159	-			A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	0	1	hg19	c.1160A>G	CCDS33736.1	0	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232065	0.79688	.	.	ENSG00000185313	ENST00000449082	D	0.98649	-5.05	5.21	5.21	0.72293	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95365	3.66	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	387	Q9Y5Y9	SCNAA_HUMAN	C	387	ENSP00000390600:Y387C	ENSP00000390600:Y387C	Y	-	2	0	0	SCN10A	38773299	38773299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	0	0	1		2	2	2	0		0	0	173		173	173	1	2.060000	-3.091476	1	0.170000	NM_006514			14	14		737	727	0		1			0	0	173	0		9.997293e-01	0	0	0	0	0	0	14	737
SCN11A	11280	broad.mit.edu	37	3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1595					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)			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)	CATGTTGACAACAATGAGAAA	0.393																																						ENST00000302328.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(4783-4785)gTt>gCt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)						130.0	128.0	128.0					3																	38888777		2203	4300	6503	SO:0001583	missense	11280	0	0					g.chr3:38888777A>G	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.4784T>C	chr3.hg19:g.38888777A>G	ENSP00000307599:p.Val1595Ala	0					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A	p.V1595A	NM_014139.2	NP_054858.2	1	2	3	1.998468	Q9UI33	SCNBA_HUMAN		26	4982	-			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	1	1	hg19	c.4784T>C	CCDS33737.1	1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572899	0.86542	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98717	-5.09;-5.09;-5.09	5.3	5.3	0.74995	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	.	15.2886	0.73849	1.0:0.0:0.0:0.0	.	1595	Q9UI33	SCNBA_HUMAN	A	1595;1595;1557	ENSP00000307599:V1595A;ENSP00000400945:V1595A;ENSP00000416757:V1557A	ENSP00000307599:V1595A	V	-	2	0	0	SCN11A	38863781	38863781	1.000000	0.71417	0.772000	0.31596	0.988000	0.76386	9.317000	0.96327	2.006000	0.58801	0.362000	0.22060	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.650276	1	0.170000	NM_014139			102	100		388	386	1		1	0		0	0	97	0		1	0	0	0	0	1	0	102	388
SCN11A	11280	broad.mit.edu	37	3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	295					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)			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)	CCATAAGCTTCCGGGTTACTG	0.448																																						ENST00000302328.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(883-885)Gaa>Aaa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)						238.0	248.0	245.0					3																	38962576		2203	4300	6503	SO:0001583	missense	11280	0	0					g.chr3:38962576C>T	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.883G>A	chr3.hg19:g.38962576C>T	ENSP00000307599:p.Glu295Lys	0					SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K	p.E295K	NM_014139.2	NP_054858.2	1	2	3	1.998468	Q9UI33	SCNBA_HUMAN		6	1081	-			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	1	1	hg19	c.883G>A	CCDS33737.1	1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507760	0.12883	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96396	-4.0;-4.0;-3.95;-3.86	3.66	-7.31	0.01441	3.66	-7.31	0.01441	Ion transport (1);	2582.250000	0.00166	N	0.000001	D	0.90130	0.6916	L	0.31476	0.935	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	D	0.84111	0.0401	10	0.20519	T	0.43	.	2.0681	0.03607	0.1205:0.1779:0.2383:0.4633	.	295	Q9UI33	SCNBA_HUMAN	K	295	ENSP00000307599:E295K;ENSP00000400945:E295K;ENSP00000416757:E295K;ENSP00000408028:E295K	ENSP00000307599:E295K	E	-	1	0	0	SCN11A	38937580	38937580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-2.422000	0.00563	0.447000	0.29281	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	1	0	1		2	2	2	0		0	0	322		322	316	1	2.060000	-20.000000	1	0.170000	NM_014139			293	284		1326	1305	1		1			0	0	322	0		1	0	0	0	0	0	0	293	1326
WDR48	57599	broad.mit.edu	37	3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	203					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353																																						ENST00000302313.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(607-609)Cta>Ata		WD repeat domain 48							161.0	153.0	156.0					3																	39111170		2203	4300	6503	SO:0001583	missense	57599	0	0					g.chr3:39111170C>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.607C>A	chr3.hg19:g.39111170C>A	ENSP00000307491:p.Leu203Ile	0					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	p.L203I	NM_020839.2	NP_065890.1	1	2	3	1.998468	Q8TAF3	WDR48_HUMAN		7	635	+			B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	1	1	hg19	c.607C>A	CCDS33738.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830680	0.50845	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.61859	2.18;2.17;0.07	5.69	2.83	0.33086	5.69	2.83	0.33086	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	0.40670	0.1126	L	0.28014	0.82	0.80722	D	1	B;B;B	0.18610	0.012;0.029;0.027	B;B;B	0.19666	0.015;0.023;0.026	T	0.14309	-1.0477	10	0.22109	T	0.4	-2.2119	10.1084	0.42548	0.0:0.7781:0.0:0.2219	.	121;194;203	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	I	203;121;133	ENSP00000307491:L203I;ENSP00000379557:L121I;ENSP00000416900:L133I	ENSP00000307491:L203I	L	+	1	2	2	WDR48	39086174	39086174	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	3.343000	0.52167	0.822000	0.34565	0.655000	0.94253	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_020839			87	85		418	410	1		1	1		0	0	87	0		1	1	0	37	0	89	0	87	418
WDR48	57599	broad.mit.edu	37	3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	233					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483																																						ENST00000302313.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(697-699)Aca>Gca		WD repeat domain 48							129.0	108.0	115.0					3																	39116241		2203	4300	6503	SO:0001583	missense	57599	0	0					g.chr3:39116241A>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.697A>G	chr3.hg19:g.39116241A>G	ENSP00000307491:p.Thr233Ala	0					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	p.T233A	NM_020839.2	NP_065890.1	1	2	3	1.998468	Q8TAF3	WDR48_HUMAN		8	725	+			B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	1	1	hg19	c.697A>G	CCDS33738.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.361411	0.95877	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.69435	-0.4;1.94;-0.4	5.86	5.86	0.93980	5.86	5.86	0.93980	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	0.81744	0.4887	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.56035	0.974;0.63;0.825;0.791	D;B;B;B	0.67725	0.953;0.287;0.394;0.41	D	0.83733	0.0199	10	0.66056	D	0.02	1.7488	16.2644	0.82568	1.0:0.0:0.0:0.0	.	25;151;224;233	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	A	233;25;151	ENSP00000307491:T233A;ENSP00000445187:T25A;ENSP00000379557:T151A	ENSP00000307491:T233A	T	+	1	0	0	WDR48	39091245	39091245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_020839			59	58		269	268	1		1	1		0	0	59	0		1	9.999626e-01	0	19	0	52	0	59	269
WDR48	57599	broad.mit.edu	37	3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	436					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGATGAAAGTGATTGTTTTG	0.358																																						ENST00000302313.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1306-1308)agT>agG		WD repeat domain 48							92.0	91.0	91.0					3																	39126162		2203	4300	6503	SO:0001583	missense	57599	0	0					g.chr3:39126162T>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1308T>G	chr3.hg19:g.39126162T>G	ENSP00000307491:p.Ser436Arg	0					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	p.S436R	NM_020839.2	NP_065890.1	1	2	3	1.998468	Q8TAF3	WDR48_HUMAN		13	1336	+			B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	1	1	hg19	c.1308T>G	CCDS33738.1	1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89343	1.07;-2.5;0.79	5.61	0.0116	0.14088	5.61	0.0116	0.14088	.	0.040621	0.85682	D	0.000000	D	0.86920	0.6049	L	0.44542	1.39	0.80722	D	1	B;B;D;P	0.54964	0.062;0.205;0.969;0.946	B;B;P;P	0.55455	0.052;0.193;0.668;0.776	T	0.81437	-0.0933	10	0.16420	T	0.52	-12.911	10.3654	0.44021	0.0:0.3182:0.0:0.6818	.	161;354;427;436	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	436;161;354	ENSP00000307491:S436R;ENSP00000445187:S161R;ENSP00000379557:S354R	ENSP00000307491:S436R	S	+	3	2	2	WDR48	39101166	39101166	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.126000	0.18424	0.533000	0.62120	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_020839			65	64		256	254	1		1	1		0	0	39	0		1	1	0	20	0	88	0	65	256
TTC21A	199223	broad.mit.edu	37	3	39170682	39170682	+	Silent	SNP	G	G	A	rs367720570	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000431162.2	+	15	2171	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000301819.6_Silent_p.A680A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	679										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)		TGGACGTGGCGCTGAACATGC	0.547													g|||	2	0.000399361	0.0015	0.0	5008	,	,		22893	0.0		0.0	False		,,,				2504	0.0					ENST00000431162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2035-2037)gcG>gcA		tetratricopeptide repeat domain 21A		A	,	6,4324		0,6,2159	103.0	105.0	105.0		1893,2037	-11.7	0.0	3		105	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	0,6,6424	AA,AG,GG		0.0,0.1386,0.0467	,	631/1273,679/1321	39170682	6,12854	2165	4265	6430	SO:0001819	synonymous_variant	199223	13	121188	44				g.chr3:39170682G>A	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.2037G>A	chr3.hg19:g.39170682G>A		0					TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000301819.6_Silent_p.A680A	p.A679A			1	2	3	1.998468	Q8NDW8	TT21A_HUMAN		15	2171	+			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	1	1	hg19	c.2037G>A	CCDS46800.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_145755			64	63		320	311	1		1	0		0	0	100	0		1	2.668315e-01	0	0	0	6	0	64	320
TTC21A	199223	broad.mit.edu	37	3	39178504	39178504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000431162.2	+	24	3365	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1077										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)		ATCCAGACAACGAGGTTGTGG	0.567																																						ENST00000431162.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.990007	0.990000	1.000000																										0				50						c.(3229-3231)aaC>aaT		tetratricopeptide repeat domain 21A							76.0	81.0	80.0					3																	39178504		2082	4199	6281	SO:0001819	synonymous_variant	199223	1	121052	35				g.chr3:39178504C>T	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.3231C>T	chr3.hg19:g.39178504C>T		0					TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000493856.1_3'UTR	p.N1077N			1	2	3	1.998468	Q8NDW8	TT21A_HUMAN		24	3365	+			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	1	1	hg19	c.3231C>T	CCDS46800.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-11.691390	1	0.170000	NM_145755			29	29		249	242	0		1	0		0	0	70	0		1	6.026331e-02	0	1	0	3	0	29	249
TTC21A	199223	broad.mit.edu	37	3	39180219	39180219	+	Silent	SNP	C	C	T	rs2293313	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39180219C>T	ENST00000431162.2	+	29	4037	c.3903C>T	c.(3901-3903)ccC>ccT	p.P1301P	TTC21A_ENST00000440121.1_Silent_p.P1253P|TTC21A_ENST00000301819.6_Silent_p.P1302P|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1301								p.P1302P(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)		GGGAGCACCCCGACTACCCCA	0.592													C|||	302	0.0603035	0.0643	0.0331	5008	,	,		18756	0.1518		0.0119	False		,,,				2504	0.0297					ENST00000431162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P1302P(1)	lung(1)	50						c.(3901-3903)ccC>ccT		tetratricopeptide repeat domain 21A		C	,	266,3612		13,240,1686	92.0	90.0	90.0		3759,3903	4.4	1.0	3	dbSNP_100	90	106,8128		1,104,4012	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	14,344,5698	TT,TC,CC		1.2873,6.8592,3.0713	,	1253/1273,1301/1321	39180219	372,11740	1939	4117	6056	SO:0001819	synonymous_variant	199223	4179	120842	67				g.chr3:39180219C>T	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.3903C>T	chr3.hg19:g.39180219C>T		0					TTC21A_ENST00000440121.1_Silent_p.P1253P|TTC21A_ENST00000301819.6_Silent_p.P1302P|TTC21A_ENST00000493856.1_3'UTR	p.P1301P			1	2	3	1.998468	Q8NDW8	TT21A_HUMAN		29	4037	+			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	1	0	hg19	c.3903C>T	CCDS46800.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-2.219431	0	0.170000	NM_145755			58	56		288	284	1		1	0		0	0	62	0		1	4.652487e-01	0	1	0	8	0	58	288
CSRNP1	64651	broad.mit.edu	37	3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T	rs200798768	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	122					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16857	0.002		0.0	False		,,,				2504	0.0					ENST00000273153.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(364-366)cGc>cAc		cysteine-serine-rich nuclear protein 1							71.0	62.0	65.0					3																	39186588		2203	4300	6503	SO:0001583	missense	64651	15	121412	41				g.chr3:39186588C>T	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.365G>A	chr3.hg19:g.39186588C>T	ENSP00000273153:p.Arg122His	0					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	p.R122H	NM_033027.3	NP_149016.2	1	2	3	1.998468	Q96S65	CSRN1_HUMAN		3	542	-			Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	1	1	hg19	c.365G>A	CCDS2682.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.953	0.968776	0.18659	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	5.14	-3.89	0.04193	5.14	-3.89	0.04193	.	0.872621	0.10310	N	0.690093	T	0.12092	0.0294	L	0.39245	1.2	0.22001	N	0.999423	B	0.21381	0.055	B	0.12156	0.007	T	0.25950	-1.0117	10	0.39692	T	0.17	-14.4598	9.0115	0.36144	0.1108:0.2384:0.0:0.6507	.	122	Q96S65	CSRN1_HUMAN	H	122	ENSP00000273153:R122H;ENSP00000422532:R122H	ENSP00000273153:R122H	R	-	2	0	0	CSRNP1	39161592	39161592	0.137000	0.22531	0.850000	0.33497	0.072000	0.16883	-0.260000	0.08708	-0.815000	0.04346	-0.993000	0.02533	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	1	0	1		2	6	2	1		1	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_033027			54	52		241	236	1		1	1		1	0	55	0		1	9.609855e-01	0	11	0	48	0	54	241
XIRP1	165904	broad.mit.edu	37	3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1656					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)			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)		AACCCGAGGAGGGCACAAATA	0.527																																						ENST00000340369.3	1.000000	0.290000	6.200000e-01	3.700000e-01	0.480000	0.514890	0.480000	0.460000																										0				71						c.(4966-4968)cCt>cAt		xin actin-binding repeat containing 1							101.0	95.0	97.0					3																	39225970		2203	4300	6503	SO:0001583	missense	165904	0	0					g.chr3:39225970G>T	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.4967C>A	chr3.hg19:g.39225970G>T	ENSP00000343140:p.Pro1656His	0					XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	p.P1656H	NM_194293.2	NP_919269.2	1	2	3	1.998468	Q702N8	XIRP1_HUMAN		2	5195	-			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	1	1	hg19	c.4967C>A	CCDS2683.1	0	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133681	0.09032	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17213	3.98;2.29	4.75	2.33	0.28932	4.75	2.33	0.28932	.	1.456000	0.05177	U	0.500616	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.33846	0.171	T	0.24977	-1.0145	10	0.44086	T	0.13	.	6.6259	0.22828	0.801:0.0:0.199:0.0	.	1656	Q702N8	XIRP1_HUMAN	H	1656;339	ENSP00000343140:P1656H;ENSP00000391645:P339H	ENSP00000343140:P1656H	P	-	2	0	0	XIRP1	39200974	39200974	1.000000	0.71417	0.102000	0.21198	0.099000	0.18886	3.498000	0.53302	0.286000	0.22352	-0.294000	0.09567	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-2.975597	1	0.170000	XM_093522			19	19		461	446	0		1	0		0	0	81	0		9.999879e-01	5.254741e-02	0	0	0	9	0	19	461
XIRP1	165904	broad.mit.edu	37	3	39228903	39228903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000396251.1_Silent_p.R678R|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	678					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)			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)		ATCTCACAGGCCGTCTTCCAC	0.592																																						ENST00000340369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2032-2034)cgG>cgA		xin actin-binding repeat containing 1							38.0	42.0	41.0					3																	39228903		2203	4300	6503	SO:0001819	synonymous_variant	165904	1	121412	28				g.chr3:39228903C>T	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.2034G>A	chr3.hg19:g.39228903C>T		0					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	p.R678R	NM_194293.2	NP_919269.2	1	2	3	1.998468	Q702N8	XIRP1_HUMAN		2	2262	-			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	1	1	hg19	c.2034G>A	CCDS2683.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	XM_093522			69	67		284	270	1		1	0		0	0	46	0		1	4.868180e-01	0	0	0	8	0	69	284
XIRP1	165904	broad.mit.edu	37	3	39229562	39229562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000396251.1_Silent_p.L459L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	459					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)			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)		CCATGGGCCAGAACCTCACCC	0.562																																						ENST00000340369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1375-1377)Ctg>Ttg		xin actin-binding repeat containing 1							158.0	169.0	165.0					3																	39229562		2203	4300	6503	SO:0001819	synonymous_variant	165904	0	0					g.chr3:39229562G>A	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.1375C>T	chr3.hg19:g.39229562G>A		0					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	p.L459L	NM_194293.2	NP_919269.2	1	2	3	1.998468	Q702N8	XIRP1_HUMAN		2	1603	-			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	1	1	hg19	c.1375C>T	CCDS2683.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1		2	2	2	0		0	0	250		250	249	1	2.060000	-20.000000	1	0.170000	XM_093522			246	244		1083	1068	0		1	0		0	0	250	0		1	2.336660e-01	0	0	0	5	0	246	1083
XIRP1	165904	broad.mit.edu	37	3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	404					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)			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)		GGATCCACTCGCTGTAGGTGA	0.582																																						ENST00000340369.3	1.000000	0.370000	5.900000e-01	4.300000e-01	0.500000	0.533728	0.500000	0.500000																										0				71						c.(1210-1212)Cga>Tga		xin actin-binding repeat containing 1							145.0	145.0	145.0					3																	39229727		2203	4300	6503	SO:0001587	stop_gained	165904	0	0					g.chr3:39229727G>A	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.1210C>T	chr3.hg19:g.39229727G>A	ENSP00000343140:p.Arg404*	0					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	p.R404*	NM_194293.2	NP_919269.2	1	2	3	1.998468	Q702N8	XIRP1_HUMAN		2	1438	-			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Nonsense_Mutation	SNP	ENST00000340369.3	0	1	hg19	c.1210C>T	CCDS2683.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.305397	0.98200	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	.	.	.	5.17	4.27	0.50696	5.17	4.27	0.50696	.	0.118422	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.9849	0.47516	0.0:0.0:0.6612:0.3388	.	.	.	.	X	404	.	ENSP00000343140:R404X	R	-	1	2	2	XIRP1	39204731	39204731	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.495000	0.66912	1.279000	0.44446	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1		2	2	2	0		0	0	205		205	201	1	2.060000	-5.011094	1	0.170000	XM_093522			51	51		1158	1142	0		1	0		0	0	205	0		1	4.397136e-02	0	0	0	8	0	51	1158
XIRP1	165904	broad.mit.edu	37	3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	112					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)			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)		TTGGCAGCTGGCCTCTCGTGT	0.597																																						ENST00000340369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(334-336)Cca>Tca		xin actin-binding repeat containing 1							72.0	72.0	72.0					3																	39230603		2203	4300	6503	SO:0001583	missense	165904	0	0					g.chr3:39230603G>A	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.334C>T	chr3.hg19:g.39230603G>A	ENSP00000343140:p.Pro112Ser	0					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	p.P112S	NM_194293.2	NP_919269.2	1	2	3	1.998468	Q702N8	XIRP1_HUMAN		2	562	-			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	1	1	hg19	c.334C>T	CCDS2683.1	1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040298	0.08148	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;3.97	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.160135	0.42420	U	0.000714	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.48	P;B	0.52109	0.69;0.28	T	0.20273	-1.0280	10	0.66056	D	0.02	.	16.048	0.80734	0.0:0.0:1.0:0.0	.	112;112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	112	ENSP00000379550:P112S;ENSP00000343140:P112S	ENSP00000343140:P112S	P	-	1	0	0	XIRP1	39205607	39205607	1.000000	0.71417	0.286000	0.24833	0.165000	0.22458	2.383000	0.44354	2.465000	0.83290	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	XM_093522			78	77		317	312	1		1	0		0	0	89	0		1	2.611758e-01	0	0	0	5	0	78	317
RPSA	3921	broad.mit.edu	37	3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	SNORA6_ENST00000384033.1_RNA|SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388																																						ENST00000301821.6	1.000000	0.430000	8.100000e-01	5.300000e-01	0.650000	0.676588	0.650000	0.640000																										0				7						c.(238-240)aGg>aTg		ribosomal protein SA							53.0	57.0	56.0					3																	39450202		2203	4299	6502	SO:0001583	missense	3921	0	0					g.chr3:39450202G>T	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.239G>T	chr3.hg19:g.39450202G>T	ENSP00000346067:p.Arg80Met	0					SNORA62_ENST00000365493.1_RNA|SNORA6_ENST00000384033.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	1	2	3	1.998468				3	348	+				Missense_Mutation	SNP	ENST00000301821.6	1	1	hg19	c.239G>T	CCDS2686.1	0	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753442	0.89753	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.52057	0.68;0.68;0.68	4.53	4.53	0.55603	4.53	4.53	0.55603	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	H	0.99225	4.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;P	0.65233	0.933;0.895	D	0.89040	0.3448	10	0.87932	D	0	.	15.1272	0.72493	0.0:0.0:1.0:0.0	.	80;80	C9J9K3;P08865	.;RSSA_HUMAN	M	80	ENSP00000346067:R80M;ENSP00000410848:R80M;ENSP00000389351:R80M	ENSP00000346067:R80M	R	+	2	0	0	RPSA	39425206	39425206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.463000	0.97652	2.220000	0.72140	0.462000	0.41574	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-2.879085	1	0.170000	NM_002295			27	26		470	462	0		1	1		0	0	88	0		9.999999e-01	1	0	58	0	1128	0	27	470
MYRIP	25924	broad.mit.edu	37	3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	314	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562																																						ENST00000302541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(940-942)tCg>tTg		myosin VIIA and Rab interacting protein							76.0	76.0	76.0					3																	40223778		2203	4300	6503	SO:0001583	missense	25924	4	121412	39				g.chr3:40223778C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.941C>T	chr3.hg19:g.40223778C>T	ENSP00000301972:p.Ser314Leu	0					MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L	p.S314L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	1	2	3	1.998468	Q8NFW9	MYRIP_HUMAN		9	1283	+			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	1	1	hg19	c.941C>T	CCDS2689.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887910	0.33348	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	3.49	0.39957	5.27	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.047200	0.07557	N	0.916394	T	0.15262	0.0368	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37781	0.608;0.335;0.386	B;B;B	0.27608	0.081;0.037;0.039	T	0.21245	-1.0251	9	.	.	.	.	7.2644	0.26222	0.0:0.426:0.46:0.114	.	225;314;314	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	314;314;314;225;127	ENSP00000398665:S314L;ENSP00000301972:S314L;ENSP00000389323:S314L;ENSP00000379519:S225L;ENSP00000438297:S127L	.	S	+	2	0	0	MYRIP	40198782	40198782	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	1.250000	0.32850	0.618000	0.30179	0.655000	0.94253	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	0	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_015460			91	90		393	387	1		1	0		0	0	86	0		1	3.184918e-01	0	0	0	6	0	91	393
MYRIP	25924	broad.mit.edu	37	3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483																																						ENST00000302541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1708-1710)cGg>cAg		myosin VIIA and Rab interacting protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	103.0	104.0		1709	-11.1	0.0	3	dbSNP_134	104	6,8594	5.0+/-18.6	0,6,4294	yes	missense	MYRIP	NM_015460.2	43	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	570/860	40251388	7,12999	2203	4300	6503	SO:0001583	missense	25924	66	121410	50				g.chr3:40251388G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1709G>A	chr3.hg19:g.40251388G>A	ENSP00000301972:p.Arg570Gln	0					MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000459828.1_3'UTR|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q	p.R570Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	1	2	3	1.998468	Q8NFW9	MYRIP_HUMAN		11	2051	+			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	1	1	hg19	c.1709G>A	CCDS2689.1	1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092538	0.08632	2.27E-4	6.98E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.54	-11.1	0.00147	5.54	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.219430	0.05706	N	0.595052	T	0.05090	0.0136	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.20739	-1.0266	9	.	.	.	.	4.1303	0.10146	0.3183:0.1099:0.4637:0.1081	.	481;570;570	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	570;570;570;481;383	ENSP00000398665:R570Q;ENSP00000301972:R570Q;ENSP00000389323:R570Q;ENSP00000379519:R481Q;ENSP00000438297:R383Q	.	R	+	2	0	0	MYRIP	40226392	40226392	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	-2.264000	0.00689	-0.794000	0.03295	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-2.190889	0	0.170000	NM_015460			76	74		367	359	1		1	0		0	0	109	0		1	4.144114e-01	0	0	0	8	0	76	367
MYRIP	25924	broad.mit.edu	37	3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	662	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512																																						ENST00000302541.6	1.000000	0.830000	1	9.900000e-01	0.990000	0.987070	0.990000	1.000000																										0				34						c.(1984-1986)Gga>Tga		myosin VIIA and Rab interacting protein							81.0	78.0	79.0					3																	40275428		2203	4300	6503	SO:0001587	stop_gained	25924	0	0					g.chr3:40275428G>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1984G>T	chr3.hg19:g.40275428G>T	ENSP00000301972:p.Gly662*	0					MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*	p.G662*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	1	2	3	1.998468	Q8NFW9	MYRIP_HUMAN		12	2326	+			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Nonsense_Mutation	SNP	ENST00000302541.6	0	1	hg19	c.1984G>T	CCDS2689.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.731632	0.99249	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;573;475	.	.	G	+	1	0	0	MYRIP	40250432	40250432	1.000000	0.71417	0.870000	0.34147	0.944000	0.59088	6.649000	0.74364	2.733000	0.93635	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.142703	1	0.170000	NM_015460			32	32		287	284	1		1	0		0	0	71	0		1	1.085505e-02	0	0	0	2	0	32	287
ZNF619	285267	broad.mit.edu	37	3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000314686.5	+	4	509	c.104G>T	c.(103-105)aGa>aTa	p.R35I	ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532																																						ENST00000314686.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(103-105)aGa>aTa		zinc finger protein 619							143.0	138.0	140.0					3																	40524102		2203	4300	6503	SO:0001583	missense	285267	0	0					g.chr3:40524102G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.104G>T	chr3.hg19:g.40524102G>T	ENSP00000322529:p.Arg35Ile	0					ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y	p.R35I			1	2	3	1.998468	Q8N2I2	ZN619_HUMAN		4	509	+			B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	1	1	hg19	c.104G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.442|8.442	0.851048|0.851048	0.17034|0.17034	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000456778;ENST00000521353;ENST00000432264|ENST00000314686;ENST00000522736	T;T;T;T;T|T;T	0.42900|0.08282	3.3;0.96;3.2;3.3;0.96|3.12;3.11	3.4|3.4	1.53|1.53	0.23141|0.23141	3.4|3.4	1.53|1.53	0.23141|0.23141	.|.	.|.	.|.	.|.	.|.	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.45581|0.45581	1.43|1.43	0.21897|0.21897	N|N	0.999483|0.999483	P;P;P;P|P;P	0.40476|0.40476	0.561;0.561;0.718;0.718|0.718;0.718	B;B;B;B|B;B	0.34242|0.31245	0.128;0.088;0.124;0.178|0.126;0.126	T|T	0.30822|0.30822	-0.9965|-0.9965	9|9	0.62326|0.72032	D|D	0.03|0.01	.|.	6.2387|6.2387	0.20778|0.20778	0.1161:0.1962:0.6877:0.0|0.1161:0.1962:0.6877:0.0	.|.	24;68;108;10|35;35	B4E271;C9JRN5;E9PCD9;B7Z9B3|Q17RW3;Q8N2I2	.;.;.;.|.;ZN619_HUMAN	Y|I	108;68;24;108;68|35	ENSP00000411132:D108Y;ENSP00000398024:D68Y;ENSP00000397232:D24Y;ENSP00000430705:D108Y;ENSP00000388710:D68Y|ENSP00000322529:R35I;ENSP00000428004:R35I	ENSP00000398024:D68Y|ENSP00000322529:R35I	D|R	+|+	1|2	0|0	0|0	ZNF619|ZNF619	40499106|40499106	40499106|40499106	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.075000|0.075000	0.17131|0.17131	0.160000|0.160000	0.16462|0.16462	0.770000|0.770000	0.33336|0.33336	0.563000|0.563000	0.77884|0.77884	GAT|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	1		2	2	2	0		0	0	131		131	129	1	2.060000	-20.000000	1	0.170000	NM_173656			135	131		611	607	1		1	1		0	0	131	0		1	8.132752e-01	0	3	0	13	0	135	611
ZNF619	285267	broad.mit.edu	37	3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000314686.5	+	6	689	c.284C>T	c.(283-285)gCa>gTa	p.A95V	ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418																																						ENST00000314686.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				21						c.(283-285)gCa>gTa		zinc finger protein 619							57.0	62.0	61.0					3																	40528333		2203	4300	6503	SO:0001583	missense	285267	0	0					g.chr3:40528333C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.284C>T	chr3.hg19:g.40528333C>T	ENSP00000322529:p.Ala95Val	0					ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V	p.A95V			1	2	3	1.998468	Q8N2I2	ZN619_HUMAN		6	689	+			B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	1	1	hg19	c.284C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309264	0.23821	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.14516	3.31;3.43;3.61;3.38;2.5;3.43;3.61	2.87	1.86	0.25419	2.87	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.012;0.012	B;B;B;B;B;B	0.12156	0.004;0.004;0.004;0.004;0.007;0.007	T	0.25606	-1.0127	9	0.45353	T	0.12	.	3.0755	0.06245	0.2657:0.5829:0.0:0.1513	.	67;111;151;53;102;95	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	V	95;151;111;67;102;151;111	ENSP00000322529:A95V;ENSP00000411132:A151V;ENSP00000398024:A111V;ENSP00000397232:A67V;ENSP00000428004:A102V;ENSP00000430705:A151V;ENSP00000388710:A111V	ENSP00000322529:A95V	A	+	2	0	0	ZNF619	40503337	40503337	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-1.304000	0.02741	1.622000	0.50330	0.563000	0.77884	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	0		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_173656			49	45		293	288	1		1	1		0	0	88	0		1	2.135469e-01	0	4	0	2	0	49	293
ZNF619	285267	broad.mit.edu	37	3	40528415	40528415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000314686.5	+	6	771	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000447116.2_Silent_p.D178D|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000522736.1_Silent_p.D129D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443																																						ENST00000314686.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(364-366)gaC>gaT		zinc finger protein 619							68.0	67.0	67.0					3																	40528415		2203	4300	6503	SO:0001819	synonymous_variant	285267	2	121412	34				g.chr3:40528415C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.366C>T	chr3.hg19:g.40528415C>T		0					ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000447116.2_Silent_p.D178D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000432264.2_Silent_p.D138D	p.D122D			1	2	3	1.998468	Q8N2I2	ZN619_HUMAN		6	771	+			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	1	1	hg19	c.366C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	0		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	NM_173656			63	62		297	289	0		1	0		0	0	96	0		1	7.300399e-01	0	1	0	13	0	63	297
ZNF619	285267	broad.mit.edu	37	3	40529531	40529531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000314686.5	+	6	1887	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000447116.2_Silent_p.C550C|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000522736.1_Silent_p.C501C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547																																						ENST00000314686.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1480-1482)tgC>tgT		zinc finger protein 619							146.0	102.0	117.0					3																	40529531		2203	4300	6503	SO:0001819	synonymous_variant	285267	0	0					g.chr3:40529531C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1482C>T	chr3.hg19:g.40529531C>T		0					ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000447116.2_Silent_p.C550C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000432264.2_Silent_p.C510C	p.C494C			1	2	3	1.998468	Q8N2I2	ZN619_HUMAN		6	1887	+			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	1	1	hg19	c.1482C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_173656			54	53		263	249	0		1	1		0	0	65	0		1	9.183063e-01	0	6	0	17	0	54	263
ZNF620	253639	broad.mit.edu	37	3	40558249	40558249	+	Silent	SNP	C	C	T	rs375097956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000314529.6	+	5	1313	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ZNF620_ENST00000418905.1_Silent_p.G274G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCACACTGGCGAGAAACCTT	0.458													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000314529.6	1.000000	0.600000	1	7.500000e-01	0.920000	0.891627	0.920000	1.000000																										0				11						c.(1162-1164)ggC>ggT		zinc finger protein 620		C		0,4406		0,0,2203	86.0	92.0	90.0		1164	-5.6	0.0	3		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF620	NM_175888.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		388/423	40558249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253639	5	121412	40				g.chr3:40558249C>T	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1164C>T	chr3.hg19:g.40558249C>T		0					ZNF620_ENST00000418905.1_Silent_p.G274G	p.G388G	NM_175888.3	NP_787084.1	1	2	3	1.998468	Q6ZNG0	ZN620_HUMAN		5	1313	+			Q8N223	Silent	SNP	ENST00000314529.6	1	1	hg19	c.1164C>T	CCDS33740.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-3.318784	1	0.170000	XM_171060			23	23		276	269	0		1	0		0	0	71	0		9.999993e-01	1.309683e-01	0	1	0	7	0	23	276
ZNF621	285268	broad.mit.edu	37	3	40571782	40571782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	78	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)			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)		CCTGGGACACCGAGATTCTGA	0.488																																						ENST00000339296.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(232-234)acC>acT		zinc finger protein 621							123.0	117.0	119.0					3																	40571782		2203	4300	6503	SO:0001819	synonymous_variant	285268	6	121412	40				g.chr3:40571782C>T	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.234C>T	chr3.hg19:g.40571782C>T		0					ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000310898.1_Silent_p.T78T	p.T78T	NM_198484.3	NP_940886.1	1	2	3	1.998468	Q6ZSS3	ZN621_HUMAN		4	686	+			Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	1	1	hg19	c.234C>T	CCDS2693.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.746798	1	0.170000	NM_198484			64	64		275	265	1		1	1		0	0	57	0		1	9.987922e-01	0	11	0	35	0	64	275
CTNNB1	1499	broad.mit.edu	37	3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	140					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTAAACTTGATTAACTATCAA	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		15		Dom	yes			Dom	yes		3	3p22-p21.3	3p22-p21.3	1499	H, Mis, T	"""catenin (cadherin-associated protein), beta 1"""				"""E, M, O"""	E, M, O	PLAG1		colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	22	Deletion - In frame(16)|Complex - deletion inframe(6)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	liver(21)|skin(1)	3893						c.(418-420)aTt>aAt		catenin (cadherin-associated protein), beta 1, 88kDa							143.0	126.0	131.0					3																	41266622		2203	4300	6503	SO:0001583	missense	1499	0	0		Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	g.chr3:41266622T>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.419T>A	chr3.hg19:g.41266622T>A	ENSP00000344456:p.Ile140Asn	0					CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N	p.I140N	NM_001904.3	NP_001895.1	1	2	3	1.998468	P35222	CTNB1_HUMAN		4	699	+			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	1	1	hg19	c.419T>A	CCDS2694.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018389	0.75275	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.65549	-0.16;0.94;-0.16;-0.16;-0.16;-0.16	5.4	5.4	0.78164	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.81586	-0.0865	10	0.62326	D	0.03	-26.5655	15.7251	0.77751	0.0:0.0:0.0:1.0	.	68;140	B4DSW9;P35222	.;CTNB1_HUMAN	N	140;140;140;140;133;140	ENSP00000385604:I140N;ENSP00000412219:I140N;ENSP00000379486:I140N;ENSP00000344456:I140N;ENSP00000411226:I133N;ENSP00000379488:I140N	ENSP00000344456:I140N	I	+	2	0	0	CTNNB1	41241626	41241626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001098210			82	81		268	262	1		1	1		0	0	61	0		1	1	0	178	0	779	0	82	268
CTNNB1	1499	broad.mit.edu	37	3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	396					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCCATAGGAAGGGATGGAAG	0.433		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		15		Dom	yes			Dom	yes		3	3p22-p21.3	3p22-p21.3	1499	H, Mis, T	"""catenin (cadherin-associated protein), beta 1"""				"""E, M, O"""	E, M, O	PLAG1		colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				3893						c.(1186-1188)gaA>gaC		catenin (cadherin-associated protein), beta 1, 88kDa							133.0	126.0	128.0					3																	41275022		2203	4300	6503	SO:0001583	missense	1499	6	121412	41	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	g.chr3:41275022A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1188A>C	chr3.hg19:g.41275022A>C	ENSP00000344456:p.Glu396Asp	0					CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D	p.E396D	NM_001904.3	NP_001895.1	1	2	3	1.998468	P35222	CTNB1_HUMAN		9	1468	+			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	1	1	hg19	c.1188A>C	CCDS2694.1	1	.	.	.	.	.	.	.	.	.	.	A	7.751	0.703292	0.15172	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.86	3.42	0.39159	5.86	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07539	-1.0767	10	0.08179	T	0.78	-10.668	8.4911	0.33100	0.6984:0.0:0.3016:0.0	.	324;396	B4DSW9;P35222	.;CTNB1_HUMAN	D	396;396;396;389;396	ENSP00000385604:E396D;ENSP00000379486:E396D;ENSP00000344456:E396D;ENSP00000411226:E389D;ENSP00000379488:E396D	ENSP00000344456:E396D	E	+	3	2	2	CTNNB1	41250026	41250026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.379000	0.44318	0.452000	0.26830	0.533000	0.62120	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	0		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_001098210			166	163		631	625	1		1	1		0	0	130	0		1	1	0	227	0	1099	0	166	631
CTNNB1	1499	broad.mit.edu	37	3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	415					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGATGATATAAATGTGGTCAC	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		15		Dom	yes			Dom	yes		3	3p22-p21.3	3p22-p21.3	1499	H, Mis, T	"""catenin (cadherin-associated protein), beta 1"""				"""E, M, O"""	E, M, O	PLAG1		colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				3893						c.(1243-1245)Aat>Cat		catenin (cadherin-associated protein), beta 1, 88kDa							161.0	156.0	157.0					3																	41275077		2203	4300	6503	SO:0001583	missense	1499	0	0		Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	g.chr3:41275077A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1243A>C	chr3.hg19:g.41275077A>C	ENSP00000344456:p.Asn415His	0					CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H	p.N415H	NM_001904.3	NP_001895.1	1	2	3	1.998468	P35222	CTNB1_HUMAN		9	1523	+			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	1	1	hg19	c.1243A>C	CCDS2694.1	1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005703	0.54254	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.79011	2.435	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.12837	0.008;0.008;0.008	T	0.62459	-0.6850	10	0.41790	T	0.15	-0.0228	16.255	0.82510	1.0:0.0:0.0:0.0	.	343;408;415	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	H	415;415;415;408;415	ENSP00000385604:N415H;ENSP00000379486:N415H;ENSP00000344456:N415H;ENSP00000411226:N408H;ENSP00000379488:N415H	ENSP00000344456:N415H	N	+	1	0	0	CTNNB1	41250081	41250081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	0		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_001098210			159	153		838	817	1		1	1		0	0	158	0		1	1	0	182	0	1169	0	159	838
CTNNB1	1499	broad.mit.edu	37	3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	421					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCTGTGCAGCTGGAATTCTT	0.453		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		15		Dom	yes			Dom	yes		3	3p22-p21.3	3p22-p21.3	1499	H, Mis, T	"""catenin (cadherin-associated protein), beta 1"""				"""E, M, O"""	E, M, O	PLAG1		colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				3893						c.(1261-1263)gCt>gTt		catenin (cadherin-associated protein), beta 1, 88kDa							158.0	154.0	155.0					3																	41275096		2203	4300	6503	SO:0001583	missense	1499	0	0		Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	g.chr3:41275096C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1262C>T	chr3.hg19:g.41275096C>T	ENSP00000344456:p.Ala421Val	0					CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V	p.A421V	NM_001904.3	NP_001895.1	1	2	3	1.998468	P35222	CTNB1_HUMAN		9	1542	+			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	1	1	hg19	c.1262C>T	CCDS2694.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780016	0.70222	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.74881	2.28	0.80722	D	1	B;B;B	0.26547	0.152;0.078;0.152	B;B;B	0.24394	0.053;0.023;0.032	T	0.61123	-0.7126	10	0.30854	T	0.27	-15.8016	20.1865	0.98220	0.0:1.0:0.0:0.0	.	349;414;421	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	V	421;421;421;414;421	ENSP00000385604:A421V;ENSP00000379486:A421V;ENSP00000344456:A421V;ENSP00000411226:A414V;ENSP00000379488:A421V	ENSP00000344456:A421V	A	+	2	0	0	CTNNB1	41250100	41250100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	0		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_001098210			160	155		812	793	1		1	1		0	0	146	0		1	1	0	170	0	1042	0	160	812
CTNNB1	1499	broad.mit.edu	37	3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A	rs551257843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	542					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTGCTTGTTCGTGCACATCAG	0.488		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)	ENST00000349496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		15		Dom	yes			Dom	yes		3	3p22-p21.3	3p22-p21.3	1499	H, Mis, T	"""catenin (cadherin-associated protein), beta 1"""				"""E, M, O"""	E, M, O	PLAG1		colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				3893						c.(1624-1626)cGt>cAt		catenin (cadherin-associated protein), beta 1, 88kDa							159.0	133.0	142.0					3																	41275730		2203	4300	6503	SO:0001583	missense	1499	1	121412	30	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	g.chr3:41275730G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1625G>A	chr3.hg19:g.41275730G>A	ENSP00000344456:p.Arg542His	0					CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H	p.R542H	NM_001904.3	NP_001895.1	1	2	3	1.998468	P35222	CTNB1_HUMAN		10	1905	+			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	1	1	hg19	c.1625G>A	CCDS2694.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528589	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.87	4.99	0.66335	5.87	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82132	2.575	0.80722	D	1	B;P	0.36683	0.383;0.565	B;B	0.24974	0.046;0.057	T	0.68735	-0.5330	10	0.72032	D	0.01	-14.329	16.2705	0.82616	0.0:0.0:0.8662:0.1338	.	470;542	B4DSW9;P35222	.;CTNB1_HUMAN	H	542;542;542;535;542	ENSP00000385604:R542H;ENSP00000379486:R542H;ENSP00000344456:R542H;ENSP00000411226:R535H;ENSP00000379488:R542H	ENSP00000344456:R542H	R	+	2	0	0	CTNNB1	41250734	41250734	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.961000	0.87903	1.456000	0.47831	0.591000	0.81541	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.355532	1	0.170000	NM_001098210			56	56		276	274	1		1	1		0	0	67	0		1	1	0	241	0	1168	0	56	276
ULK4	54986	broad.mit.edu	37	3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	894					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)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284																																						ENST00000301831.4	1.000000	0.750000	1	9.100000e-01	0.990000	0.967656	0.990000	1.000000																										0				22						c.(2680-2682)Gcc>Acc		unc-51 like kinase 4							93.0	87.0	89.0					3																	41746752		1811	4078	5889	SO:0001583	missense	54986	0	0					g.chr3:41746752C>T	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.2680G>A	chr3.hg19:g.41746752C>T	ENSP00000301831:p.Ala894Thr	0						p.A894T	NM_017886.2	NP_060356.2	1	2	3	1.998468	Q96C45	ULK4_HUMAN		26	3142	-			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	1	1	hg19	c.2680G>A	CCDS43071.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575882	0.86645	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.01	5.01	0.66863	5.01	5.01	0.66863	Armadillo-type fold (1);	0.180486	0.33938	U	0.004411	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.72110	-0.4389	10	0.42905	T	0.14	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	894	Q96C45	ULK4_HUMAN	T	894	ENSP00000301831:A894T	ENSP00000301831:A894T	A	-	1	0	0	ULK4	41721756	41721756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.226000	0.65299	2.480000	0.83734	0.591000	0.81541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-10.312940	1	0.170000	XM_929989			28	28		276	270	1		1	0		0	0	61	0		1	1.730327e-01	0	0	0	8	0	28	276
ULK4	54986	broad.mit.edu	37	3	41746756	41746756	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	892					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)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTATGGCTCCATCTATGTTCG	0.274																																						ENST00000301831.4	1.000000	0.250000	6.500000e-01	3.500000e-01	0.470000	0.514266	0.470000	0.460000																										0				22						c.(2674-2676)gaT>gaC		unc-51 like kinase 4							91.0	84.0	86.0					3																	41746756		1808	4077	5885	SO:0001819	synonymous_variant	54986	0	0					g.chr3:41746756A>G	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.2676T>C	chr3.hg19:g.41746756A>G		0						p.D892D	NM_017886.2	NP_060356.2	1	2	3	1.998468	Q96C45	ULK4_HUMAN		26	3138	-			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	1	1	hg19	c.2676T>C	CCDS43071.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	0	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-13.255100	1	0.170000	XM_929989			12	12		298	292	0		1	0		0	0	61	0		9.990573e-01	4.310891e-02	0	0	0	8	0	12	298
ULK4	54986	broad.mit.edu	37	3	41756938	41756938	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4						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)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393																																						ENST00000301831.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.e24+1		unc-51 like kinase 4							96.0	94.0	95.0					3																	41756938		1901	4127	6028	SO:0001630	splice_region_variant	54986	0	0					g.chr3:41756938C>A	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.2577+1G>T	chr3.hg19:g.41756938C>A		0							NM_017886.2	NP_060356.2	1	2	3	1.998468	Q96C45	ULK4_HUMAN		24	3040	-			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Splice_Site	SNP	ENST00000301831.4	1	1	hg19		CCDS43071.1	1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383800	0.61845	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8774	0.96884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ULK4	41731942	41731942	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	6.775000	0.75018	2.703000	0.92315	0.650000	0.86243	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	1		2	2	2	0		0	0	70		70	65	1	2.060000	-20.000000	1	0.170000	XM_929989	Intron		61	61		276	271	1		1			0	0	70	0		1	0	0	0	0	0	0	61	276
ULK4	54986	broad.mit.edu	37	3	41939937	41939937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000301831.4	-	14	1797	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Silent_p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	445					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)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284																																						ENST00000301831.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1333-1335)ctA>ctG		unc-51 like kinase 4							133.0	140.0	138.0					3																	41939937		2186	4291	6477	SO:0001819	synonymous_variant	54986	0	0					g.chr3:41939937T>C	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.1335A>G	chr3.hg19:g.41939937T>C		0					U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Silent_p.L445L	p.L445L	NM_017886.2	NP_060356.2	1	2	3	1.998468	Q96C45	ULK4_HUMAN		14	1797	-			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	1	1	hg19	c.1335A>G	CCDS43071.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	XM_929989			103	102		378	376	1		1	0		0	0	121	0		1	6.065919e-01	0	1	0	8	0	103	378
TRAK1	22906	broad.mit.edu	37	3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A	rs368818504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				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)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCACAACCGAGCAAATTGA	0.448																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5	1.000000	0.210000	4.700000e-01	2.700000e-01	0.350000	0.396816	0.350000	0.340000																										0				22						c.(256-258)Gag>Aag		trafficking protein, kinesin binding 1		G	LYS/GLU	1,3909		0,1,1954	135.0	126.0	129.0		256	5.7	1.0	3		129	0,8286		0,0,4143	no	missense	TRAK1	NM_001042646.1	56	0,1,6097	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	86/954	42167076	1,12195	1955	4143	6098	SO:0001583	missense	22906	2	120884	39				g.chr3:42167076G>A		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.256G>A	chr3.hg19:g.42167076G>A	ENSP00000328998:p.Glu86Lys	0					TRAK1_ENST00000487159.1_3'UTR	p.E86K	NM_001042646.2	NP_001036111.1	1	2	3	1.998468	Q9UPV9	TRAK1_HUMAN		2	656	+			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	1	1	hg19	c.256G>A	CCDS43072.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.246109	0.95272	2.56E-4	0.0	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18338	2.22	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.135083	0.47455	D	0.000222	T	0.40398	0.1115	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01925	-1.1246	10	0.24483	T	0.36	.	18.8873	0.92383	0.0:0.0:1.0:0.0	.	86;86	B7Z347;Q9UPV9	.;TRAK1_HUMAN	K	86	ENSP00000328998:E86K	ENSP00000328998:E86K	E	+	1	0	0	TRAK1	42142080	42142080	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.708000	0.92522	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-2.457955	0	0.170000	NM_014965			17	17		566	555	0		1	1		0	0	127	0		9.999595e-01	7.358304e-01	0	6	0	82	0	17	566
TRAK1	22906	broad.mit.edu	37	3	42226281	42226281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42226281C>T	ENST00000327628.5	+	4	868	c.468C>T	c.(466-468)caC>caT	p.H156H	TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.H82H	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	156	HAP1 N-terminal.				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)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGTGGAACACATCAGGGAGG	0.582																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5	1.000000	0.220000	4.500000e-01	2.800000e-01	0.350000	0.393567	0.350000	0.350000																										0				22						c.(466-468)caC>caT		trafficking protein, kinesin binding 1							113.0	113.0	113.0					3																	42226281		2203	4300	6503	SO:0001819	synonymous_variant	22906	0	0					g.chr3:42226281C>T		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.468C>T	chr3.hg19:g.42226281C>T		0					TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR	p.H156H	NM_001042646.2	NP_001036111.1	1	2	3	1.998468	Q9UPV9	TRAK1_HUMAN		4	868	+			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	1	1	hg19	c.468C>T	CCDS43072.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.443548	1	0.170000	NM_014965			21	22		700	687	0		1	1		0	0	131	0		9.999970e-01	9.879238e-01	0	15	0	221	0	21	700
TRAK1	22906	broad.mit.edu	37	3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000327628.5	+	8	1274	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	292	HAP1 N-terminal.				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)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(874-876)Gtt>Att		trafficking protein, kinesin binding 1							110.0	105.0	106.0					3																	42234671		2203	4300	6503	SO:0001583	missense	22906	0	0					g.chr3:42234671G>A		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.874G>A	chr3.hg19:g.42234671G>A	ENSP00000328998:p.Val292Ile	0					TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR	p.V292I	NM_001042646.2	NP_001036111.1	1	2	3	1.998468	Q9UPV9	TRAK1_HUMAN		8	1274	+			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	1	1	hg19	c.874G>A	CCDS43072.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372768	0.82573	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.998;0.996;0.972;1.0	D;D;D;D;P;D	0.83275	0.994;0.996;0.996;0.99;0.899;0.984	T	0.26985	-1.0087	10	0.59425	D	0.04	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	218;234;292;234;218;292	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	292;292;218;234;234;35	ENSP00000328998:V292I;ENSP00000410717:V218I;ENSP00000379478:V234I;ENSP00000340702:V234I;ENSP00000413729:V35I	ENSP00000328998:V292I	V	+	1	0	0	TRAK1	42209675	42209675	1.000000	0.71417	0.116000	0.21606	0.491000	0.33493	9.799000	0.99117	2.779000	0.95612	0.637000	0.83480	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_014965			83	81		307	303	1		1	1		0	0	82	0		1	1	0	60	0	136	0	83	307
TRAK1	22906	broad.mit.edu	37	3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000327628.5	+	10	1484	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	362	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)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(1084-1086)Cgc>Tgc		trafficking protein, kinesin binding 1							119.0	86.0	97.0					3																	42236404		2203	4300	6503	SO:0001583	missense	22906	1	121412	22				g.chr3:42236404C>T		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.1084C>T	chr3.hg19:g.42236404C>T	ENSP00000328998:p.Arg362Cys	0					TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR	p.R362C	NM_001042646.2	NP_001036111.1	1	2	3	1.998468	Q9UPV9	TRAK1_HUMAN		10	1484	+			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	1	1	hg19	c.1084C>T	CCDS43072.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879276	0.91740	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15834	2.95;2.98;2.96;2.97;2.39	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.74258	2.255	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;P;P	0.79108	0.959;0.959;0.973;0.992;0.871;0.871	T	0.08126	-1.0737	10	0.42905	T	0.14	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	288;304;362;304;288;362	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	C	362;362;288;304;304;80	ENSP00000328998:R362C;ENSP00000410717:R288C;ENSP00000379478:R304C;ENSP00000340702:R304C;ENSP00000413729:R80C	ENSP00000328998:R362C	R	+	1	0	0	TRAK1	42211408	42211408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.869000	0.69613	2.882000	0.98803	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_014965			25	25		85	84	1		1	1		0	0	33	0		9.999999e-01	1	0	87	0	212	0	25	85
VIPR1	7433	broad.mit.edu	37	3	42568884	42568884	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000325123.4	+	5	512		c.e5-1		VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000433647.1_Splice_Site	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1						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)			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)		CCCTCCAACAGCAGCAGACCA	0.617																																						ENST00000325123.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.e5-1		vasoactive intestinal peptide receptor 1							131.0	115.0	121.0					3																	42568884		2203	4300	6503	SO:0001630	splice_region_variant	7433	0	0					g.chr3:42568884G>T	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.400-1G>T	chr3.hg19:g.42568884G>T		0					VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Splice_Site|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000602176.1_RNA		NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	1	2	3	1.998468	P32241	VIPR1_HUMAN		5	512	+			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Splice_Site	SNP	ENST00000325123.4	1	1	hg19		CCDS2698.1	1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793086	0.31685	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000439731;ENST00000325123	.	.	.	4.71	2.72	0.32119	4.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5622	0.50782	0.0:0.3435:0.6565:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	VIPR1	42543888	42543888	0.213000	0.23551	0.574000	0.28523	0.233000	0.25261	0.192000	0.17096	1.050000	0.40346	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_004624	Intron		60	59		325	313	1		1			0	0	72	0		1	0	0	0	0	0	0	60	325
NKTR	4820	broad.mit.edu	37	3	42672059	42672059	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	132	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			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)		CTGCTCCACACCTGGATGGGT	0.453																																						ENST00000232978.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(394-396)caC>caT		natural killer cell triggering receptor							160.0	138.0	145.0					3																	42672059		2203	4300	6503	SO:0001819	synonymous_variant	4820	0	0					g.chr3:42672059C>T		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.396C>T	chr3.hg19:g.42672059C>T		0					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.H132H	NM_005385.3	NP_005376.2	1	2	3	1.998468	P30414	NKTR_HUMAN		7	584	+				Silent	SNP	ENST00000232978.8	1	1	hg19	c.396C>T	CCDS2702.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	0		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_005385			62	62		299	295	1		1	1		0	0	90	0		1	9.087834e-01	0	5	0	17	0	62	299
NKTR	4820	broad.mit.edu	37	3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1291					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			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)		AAACCGTAGACCAAGAAATCA	0.428																																						ENST00000232978.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3871-3873)Cca>Tca		natural killer cell triggering receptor							79.0	78.0	78.0					3																	42681067		2203	4300	6503	SO:0001583	missense	4820	0	0					g.chr3:42681067C>T		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.3871C>T	chr3.hg19:g.42681067C>T	ENSP00000232978:p.Pro1291Ser	0					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.P1291S	NM_005385.3	NP_005376.2	1	2	3	1.998468	P30414	NKTR_HUMAN		13	4059	+				Missense_Mutation	SNP	ENST00000232978.8	1	1	hg19	c.3871C>T	CCDS2702.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165595	0.78339	.	.	ENSG00000114857	ENST00000232978	T	0.20069	2.1	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60229	-0.7304	10	0.87932	D	0	-17.7678	19.4228	0.94729	0.0:1.0:0.0:0.0	.	991;1291	Q6M1B8;P30414	.;NKTR_HUMAN	S	1291	ENSP00000232978:P1291S	ENSP00000232978:P1291S	P	+	1	0	0	NKTR	42656071	42656071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.663000	0.90544	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_005385			65	65		289	287	1		1	1		0	0	68	0		1	9.996568e-01	0	14	0	41	0	65	289
NKTR	4820	broad.mit.edu	37	3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1432					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			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)		TTATAATCGGCGGTCCAGGTG	0.527																																						ENST00000232978.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.998223	0.990000	1.000000																										0				41						c.(4294-4296)Cgg>Tgg		natural killer cell triggering receptor							113.0	95.0	101.0					3																	42685488		2203	4300	6503	SO:0001583	missense	4820	8	121412	36				g.chr3:42685488C>T		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.4294C>T	chr3.hg19:g.42685488C>T	ENSP00000232978:p.Arg1432Trp	0					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.R1432W	NM_005385.3	NP_005376.2	1	2	3	1.998468	P30414	NKTR_HUMAN		16	4482	+				Missense_Mutation	SNP	ENST00000232978.8	1	1	hg19	c.4294C>T	CCDS2702.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293489	0.60086	.	.	ENSG00000114857	ENST00000232978	T	0.23950	1.88	5.52	4.64	0.57946	5.52	4.64	0.57946	.	0.060738	0.64402	N	0.000004	T	0.26085	0.0636	M	0.72894	2.215	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.048	T	0.09796	-1.0658	10	0.87932	D	0	-3.2097	9.981	0.41813	0.1459:0.7803:0.0:0.0738	.	1132;1432	Q6M1B8;P30414	.;NKTR_HUMAN	W	1432	ENSP00000232978:R1432W	ENSP00000232978:R1432W	R	+	1	2	2	NKTR	42660492	42660492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.085000	0.30840	1.341000	0.45600	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.144982	1	0.170000	NM_005385			24	24		165	163	1		1	1		0	0	43	0		9.999998e-01	9.193263e-01	0	6	0	26	0	24	165
ZBTB47	92999	broad.mit.edu	37	3	42705408	42705408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000232974.6	+	5	2138	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	ZBTB47_ENST00000457842.3_Silent_p.F243F|ZBTB47_ENST00000505904.1_Silent_p.F165F			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AGCAGTACTTCGATGAGCACA	0.592																																						ENST00000232974.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1855-1857)ttC>ttT		zinc finger and BTB domain containing 47							64.0	63.0	63.0					3																	42705408		2203	4299	6502	SO:0001819	synonymous_variant	92999	0	0					g.chr3:42705408C>T	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1857C>T	chr3.hg19:g.42705408C>T		0					ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000457842.3_Silent_p.F243F	p.F619F			1	2	3	1.998468	Q9UFB7	ZBT47_HUMAN		5	2138	+			H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	1	1	hg19	c.1857C>T	CCDS46805.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_145166			25	25		89	88	0		1	1		0	0	25	0		9.999999e-01	9.999997e-01	0	12	0	88	0	25	89
CCDC13	152206	broad.mit.edu	37	3	42775003	42775003	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547																																						ENST00000310232.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1468-1470)ccG>ccA		coiled-coil domain containing 13							127.0	140.0	136.0					3																	42775003		2203	4300	6503	SO:0001819	synonymous_variant	152206	11	121412	44				g.chr3:42775003C>T	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.1470G>A	chr3.hg19:g.42775003C>T		0					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.P490P	NM_144719.3	NP_653320.3	1	2	3	1.998468	Q8IYE1	CCD13_HUMAN		11	1553	-				Silent	SNP	ENST00000310232.6	1	1	hg19	c.1470G>A	CCDS2705.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	0	0	1		20	2	2	1		1	1	219		219	210	1	2.060000	-3.322554	1	0.170000	NM_144719			215	213		1027	1007	1		1			1	0	219	0		1	0	0	0	0	0	0	215	1027
CCDC13	152206	broad.mit.edu	37	3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602																																						ENST00000310232.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1303-1305)gCc>gTc		coiled-coil domain containing 13							112.0	96.0	101.0					3																	42777266		2203	4300	6503	SO:0001583	missense	152206	0	0					g.chr3:42777266G>A	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.1304C>T	chr3.hg19:g.42777266G>A	ENSP00000309836:p.Ala435Val	0					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.A435V	NM_144719.3	NP_653320.3	1	2	3	1.998468	Q8IYE1	CCD13_HUMAN		10	1387	-				Missense_Mutation	SNP	ENST00000310232.6	1	1	hg19	c.1304C>T	CCDS2705.1	1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581586	0.28180	.	.	ENSG00000244607	ENST00000310232	T	0.24538	1.85	4.76	3.78	0.43462	4.76	3.78	0.43462	.	0.732062	0.12831	N	0.435649	T	0.28300	0.0699	L	0.56769	1.78	0.24385	N	0.994771	P	0.46512	0.879	B	0.43536	0.423	T	0.08229	-1.0732	10	0.30078	T	0.28	.	11.422	0.49987	0.0:0.0:0.7064:0.2935	.	435	Q8IYE1	CCD13_HUMAN	V	435	ENSP00000309836:A435V	ENSP00000309836:A435V	A	-	2	0	0	CCDC13	42752270	42752270	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.925000	0.48884	2.202000	0.70862	0.511000	0.50034	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	1	0	1		2	2	2	0		0	0	106		106	103	1	2.060000	-20.000000	1	0.170000	NM_144719			87	86		474	463	1		1			0	0	106	0		1	0	0	0	0	0	0	87	474
CCDC13	152206	broad.mit.edu	37	3	42781273	42781273	+	Silent	SNP	C	C	T	rs555512201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532																																						ENST00000310232.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1015-1017)caG>caA		coiled-coil domain containing 13							149.0	129.0	136.0					3																	42781273		2203	4300	6503	SO:0001819	synonymous_variant	152206	0	0					g.chr3:42781273C>T	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.1017G>A	chr3.hg19:g.42781273C>T		0					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.Q339Q	NM_144719.3	NP_653320.3	1	2	3	1.998468	Q8IYE1	CCD13_HUMAN		9	1100	-				Silent	SNP	ENST00000310232.6	1	1	hg19	c.1017G>A	CCDS2705.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.221107	1	0.170000	NM_144719			82	80		371	365	0		1			0	0	94	0		1	0	0	0	0	0	0	82	371
ACKR2	1238	broad.mit.edu	37	3	42906716	42906716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	ENST00000422265.1	+	3	897	c.722G>T	c.(721-723)aGg>aTg	p.R241M	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	241					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)										GTGAGGCTGAGGCCCGCAGGC	0.537																																						ENST00000422265.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(721-723)aGg>aTg		atypical chemokine receptor 2							113.0	114.0	114.0					3																	42906716		2203	4300	6503	SO:0001583	missense	1238	0	0					g.chr3:42906716G>T	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.722G>T	chr3.hg19:g.42906716G>T	ENSP00000416996:p.Arg241Met	0					KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M	p.R241M	NM_001296.4	NP_001287.2	1	2	3	1.998468	O00590	ACKR2_HUMAN		3	897	+			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	0	0	hg19	c.722G>T	CCDS2706.1	1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077645	0.36662	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.40476	1.03;1.03;1.03	4.49	1.61	0.23674	4.49	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.353818	0.19894	N	0.103664	T	0.56978	0.2022	M	0.82630	2.6	0.09310	N	0.999997	D	0.57571	0.98	P	0.58780	0.845	T	0.49513	-0.8932	9	.	.	.	.	7.5575	0.27833	0.2964:0.0:0.7036:0.0	.	241	O00590	CCBP2_HUMAN	M	241	ENSP00000396150:R241M;ENSP00000416996:R241M;ENSP00000273145:R241M	.	R	+	2	0	0	CCBP2	42881720	42881720	0.001000	0.12720	0.988000	0.46212	0.545000	0.35147	-0.247000	0.08866	0.134000	0.18681	0.563000	0.77884	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	1	0	1		2	2	2	0		0	0	140		140	137	1	2.060000	-20.000000	1	0.170000	NM_001296			150	148		793	772	1		1	0		0	0	140	0		1	3.109210e-01	0	1	0	6	0	150	793
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587																																						ENST00000316161.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R306Q(1)	lung(1)	23						c.(916-918)cGg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	28.0	29.0		917	-10.3	0.0	3	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP8B1	NM_004391.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/502	42916392	2,13004	2203	4300	6503	SO:0001583	missense	1582	3	121400	35				g.chr3:42916392C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.917G>A	chr3.hg19:g.42916392C>T	ENSP00000318867:p.Arg306Gln	0					KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA	p.R306Q	NM_004391.2	NP_004382.2	1	2	3	1.998468	Q9UNU6	CP8B1_HUMAN		1	1241	-			B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	1	1	hg19	c.917G>A	CCDS2707.1	1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	0	CYP8B1	42891396	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_004391			37	36		128	126	1		1			0	0	24	0		1	0	0	0	0	0	0	37	128
ZNF662	389114	broad.mit.edu	37	3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	213					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)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378																																						ENST00000541208.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(637-639)Act>Cct		zinc finger protein 662							92.0	95.0	94.0					3																	42956202		2203	4300	6503	SO:0001583	missense	389114	0	0					g.chr3:42956202A>C	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.637A>C	chr3.hg19:g.42956202A>C	ENSP00000446208:p.Thr213Pro	0					KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P	p.T213P			1	2	3	1.998468	Q6ZS27	ZN662_HUMAN		5	1006	+			A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	1	1	hg19	c.637A>C	CCDS2708.1	1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194592	0.22037	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.20598	2.06;2.06;2.06	3.29	0.801	0.18679	3.29	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.23550	N	0.997432	B;B	0.31859	0.332;0.343	B;B	0.39217	0.148;0.294	T	0.31806	-0.9930	9	0.87932	D	0	.	6.2962	0.21087	0.7706:0.0:0.2294:0.0	.	239;213	F8W7S8;Q6ZS27	.;ZN662_HUMAN	P	213;239;213	ENSP00000405047:T213P;ENSP00000329264:T239P;ENSP00000446208:T213P	ENSP00000329264:T239P	T	+	1	0	0	ZNF662	42931206	42931206	0.000000	0.05858	0.314000	0.25224	0.475000	0.33008	0.550000	0.23345	0.062000	0.16340	0.454000	0.30748	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_207404			108	106		438	429	1		1	0		0	0	91	0		1	2.608566e-01	0	0	0	5	0	108	438
ZNF662	389114	broad.mit.edu	37	3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	274					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)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438																																						ENST00000541208.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(820-822)aAa>aCa		zinc finger protein 662							90.0	87.0	88.0					3																	42956386		2203	4300	6503	SO:0001583	missense	389114	0	0					g.chr3:42956386A>C	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.821A>C	chr3.hg19:g.42956386A>C	ENSP00000446208:p.Lys274Thr	0					KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T	p.K274T			1	2	3	1.998468	Q6ZS27	ZN662_HUMAN		5	1190	+			A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	1	1	hg19	c.821A>C	CCDS2708.1	1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210838	0.39102	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.17	3.17	0.36434	3.17	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.77616	2.38	0.29025	N	0.886078	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.40327	-0.9569	9	0.87932	D	0	.	9.7081	0.40229	1.0:0.0:0.0:0.0	.	300;274	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	274;300;274	ENSP00000405047:K274T;ENSP00000329264:K300T;ENSP00000446208:K274T	ENSP00000329264:K300T	K	+	2	0	0	ZNF662	42931390	42931390	0.523000	0.26274	1.000000	0.80357	0.994000	0.84299	1.259000	0.32956	1.468000	0.48064	0.454000	0.30748	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_207404			64	64		319	312	1		1	0		0	0	64	0		1	2.886751e-02	0	0	0	2	0	64	319
ZNF662	389114	broad.mit.edu	37	3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488																																						ENST00000541208.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1006-1008)Gac>Aac		zinc finger protein 662							90.0	84.0	86.0					3																	42956571		2203	4300	6503	SO:0001583	missense	389114	0	0					g.chr3:42956571G>A	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.1006G>A	chr3.hg19:g.42956571G>A	ENSP00000446208:p.Asp336Asn	0					KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N	p.D336N			1	2	3	1.998468	Q6ZS27	ZN662_HUMAN		5	1375	+			A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	1	1	hg19	c.1006G>A	CCDS2708.1	1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673663	0.47781	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07327	3.2;3.2;3.2	2.92	2.92	0.33932	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.25485	0.75	0.23162	N	0.998194	B;B	0.33919	0.378;0.432	B;B	0.33392	0.101;0.163	T	0.28808	-1.0032	9	0.87932	D	0	.	11.6396	0.51224	0.0:0.0:1.0:0.0	.	362;336	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	336;362;336	ENSP00000405047:D336N;ENSP00000329264:D362N;ENSP00000446208:D336N	ENSP00000329264:D362N	D	+	1	0	0	ZNF662	42931575	42931575	0.003000	0.15002	0.985000	0.45067	0.969000	0.65631	0.686000	0.25392	1.665000	0.50811	0.555000	0.69702	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_207404			62	60		204	200	1		1	0		0	0	72	0		1	5.915105e-01	0	0	0	8	0	62	204
SNRK	54861	broad.mit.edu	37	3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	NM_017719.4	NP_060189.3			SNF related kinase											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)		CAGCATGGCAGGATTTAAGCG	0.363																																						ENST00000296088.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(7-9)Gga>Tga		SNF related kinase							88.0	84.0	85.0					3																	43344702		1825	4087	5912	SO:0001587	stop_gained	54861	0	0					g.chr3:43344702G>T	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.7G>T	chr3.hg19:g.43344702G>T	ENSP00000296088:p.Gly3*	0					SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*	p.G3*	NM_017719.4	NP_060189.3	1	2	3	1.998468				3	311	+				Nonsense_Mutation	SNP	ENST00000296088.7	0	1	hg19	c.7G>T	CCDS43075.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.126873	0.98667	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.8	4.92	0.64577	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8493	0.85989	0.0:0.1286:0.8714:0.0	.	.	.	.	X	3	.	ENSP00000296088:G3X	G	+	1	0	0	SNRK	43319706	43319706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.425000	0.47237	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-2.817451	1	0.170000	NM_017719			51	50		251	247	0		1	1		0	0	63	0		1	9.999965e-01	0	23	0	72	0	51	251
SNRK	54861	broad.mit.edu	37	3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C	NM_017719.4	NP_060189.3			SNF related kinase											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)		AAGTGTCTGTTCAGGGTGGAA	0.537																																						ENST00000296088.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1327-1329)tTc>tGc		SNF related kinase							97.0	106.0	103.0					3																	43389079		2011	4186	6197	SO:0001583	missense	54861	0	0					g.chr3:43389079T>G	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.1328T>G	chr3.hg19:g.43389079T>G	ENSP00000296088:p.Phe443Cys	0					SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C	p.F443C	NM_017719.4	NP_060189.3	1	2	3	1.998468				7	1632	+				Missense_Mutation	SNP	ENST00000296088.7	1	1	hg19	c.1328T>G	CCDS43075.1	1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423784	0.62733	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.39	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.73751	-0.3884	10	0.39692	T	0.17	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	443	Q9NRH2	SNRK_HUMAN	C	443;443;443;237	ENSP00000401246:F443C;ENSP00000411375:F443C;ENSP00000296088:F443C;ENSP00000409516:F237C	ENSP00000296088:F443C	F	+	2	0	0	SNRK	43364083	43364083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.685000	0.68204	1.867000	0.54127	0.460000	0.39030	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_017719			44	43		150	150	1		1	1		0	0	42	0		1	1	0	44	0	120	0	44	150
ANO10	55129	broad.mit.edu	37	3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000292246.3	-	4	556	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	129					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)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289																																						ENST00000292246.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				29						c.(385-387)aAa>aGa		anoctamin 10							126.0	120.0	122.0					3																	43640110		2203	4296	6499	SO:0001583	missense	55129	0	0					g.chr3:43640110T>C	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.386A>G	chr3.hg19:g.43640110T>C	ENSP00000292246:p.Lys129Arg	0					ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000451430.2_Intron	p.K129R	NM_018075.3	NP_060545.3	1	2	3	1.998468	Q9NW15	ANO10_HUMAN		4	556	-			A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	1	1	hg19	c.386A>G	CCDS2710.2	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732828	0.89482	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T;D;D;D	0.86030	0.14;-0.74;0.16;0.17;1.98;1.93;-2.06;-2.06;-2.06	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.66297	2.02	0.80722	D	1	P;D;P;P	0.71674	0.897;0.998;0.569;0.897	P;D;B;P	0.80764	0.562;0.994;0.382;0.562	D	0.88224	0.2899	10	0.19147	T	0.46	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	129;129;63;129	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	R	129;129;63;129;129;129;129;129;129	ENSP00000292246:K129R;ENSP00000327767:K129R;ENSP00000379398:K63R;ENSP00000396990:K129R;ENSP00000406432:K129R;ENSP00000402010:K129R;ENSP00000402845:K129R;ENSP00000399103:K129R;ENSP00000397360:K129R	ENSP00000292246:K129R	K	-	2	0	0	ANO10	43615114	43615114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.244000	0.73946	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_018075			20	19		96	94	1		1	1		0	0	38	0		9.999968e-01	9.999598e-01	0	27	0	60	0	20	96
ZNF445	353274	broad.mit.edu	37	3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000396077.2	-	8	2571	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	742					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)			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)		TGACTAAAAGATGGCCCGCCC	0.493																																						ENST00000396077.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999754	0.990000	1.000000																										0				31						c.(2224-2226)Tct>Cct		zinc finger protein 445							93.0	96.0	95.0					3																	44488939		2203	4300	6503	SO:0001583	missense	353274	0	0					g.chr3:44488939A>G	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.2224T>C	chr3.hg19:g.44488939A>G	ENSP00000379387:p.Ser742Pro	0					ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	p.S742P	NM_181489.5	NP_852466.1	1	2	3	1.998468	P59923	ZN445_HUMAN		8	2571	-			Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	1	1	hg19	c.2224T>C	CCDS2713.1	1	.	.	.	.	.	.	.	.	.	.	a	6.331	0.429117	0.11987	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-1.7	0.08159	3.49	-1.7	0.08159	.	0.978073	0.08342	N	0.960721	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	10	0.54805	T	0.06	.	4.0757	0.09902	0.5766:0.0:0.2754:0.148	.	730;742	B7ZKX2;P59923	.;ZN445_HUMAN	P	742	ENSP00000413073:S742P;ENSP00000379387:S742P	ENSP00000379387:S742P	S	-	1	0	0	ZNF445	44463943	44463943	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-1.272000	0.02826	-0.315000	0.08703	0.255000	0.18592	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-19.993560	1	0.170000	NM_181489			60	58		454	449	1		1	1		0	0	91	0		1	8.886526e-01	0	2	0	29	0	60	454
ZNF445	353274	broad.mit.edu	37	3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T	rs199898781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000396077.2	-	4	885	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	180					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)			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)		AGGTGGTCCCCCAGAGCAGAG	0.587																																						ENST00000396077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(538-540)Ggg>Agg		zinc finger protein 445							108.0	110.0	109.0					3																	44492866		2203	4300	6503	SO:0001583	missense	353274	4	121412	42				g.chr3:44492866C>T	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.538G>A	chr3.hg19:g.44492866C>T	ENSP00000379387:p.Gly180Arg	0					ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	p.G180R	NM_181489.5	NP_852466.1	1	2	3	1.998468	P59923	ZN445_HUMAN		4	885	-			Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	1	1	hg19	c.538G>A	CCDS2713.1	1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319933	0.41096	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05855	3.38;3.38	4.63	2.73	0.32206	4.63	2.73	0.32206	.	0.311846	0.23426	N	0.048304	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.45913	0.497;0.497	T	0.30909	-0.9962	10	0.40728	T	0.16	.	7.562	0.27857	0.1891:0.6282:0.1827:0.0	.	180;180	B7ZKX2;P59923	.;ZN445_HUMAN	R	180;180;173;178	ENSP00000413073:G180R;ENSP00000379387:G180R	ENSP00000342436:G173R	G	-	1	0	0	ZNF445	44467870	44467870	0.000000	0.05858	0.140000	0.22221	0.991000	0.79684	0.103000	0.15292	0.625000	0.30304	0.491000	0.48974	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	1		17	2	2	0		0	1	157		157	157	1	2.060000	-2.766352	1	0.170000	NM_181489			154	148		622	606	1		1	1		0	0	157	0		1	7.207620e-01	0	5	0	7	0	154	622
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000396077.2	-	3	365	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	6					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)			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)		AGGCAGCATGCCACCTGCCTG	0.547																																						ENST00000396077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(16-18)tgG>tgA		zinc finger protein 445							45.0	44.0	44.0					3																	44497024		2203	4300	6503	SO:0001587	stop_gained	353274	0	0					g.chr3:44497024C>T	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.18G>A	chr3.hg19:g.44497024C>T	ENSP00000379387:p.Trp6*	0					ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	p.W6*	NM_181489.5	NP_852466.1	1	2	3	1.998468	P59923	ZN445_HUMAN		3	365	-			Q3MJD1	Nonsense_Mutation	SNP	ENST00000396077.2	0	1	hg19	c.18G>A	CCDS2713.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876041	0.72180	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	.	.	.	4.02	2.16	0.27623	4.02	2.16	0.27623	.	0.195054	0.25935	N	0.027348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.4626	0.44590	0.0:0.6173:0.3827:0.0	.	.	.	.	X	6	.	ENSP00000342436:W6X	W	-	3	0	0	ZNF445	44472028	44472028	0.086000	0.21541	0.614000	0.29051	0.414000	0.31173	0.126000	0.15769	0.621000	0.30232	0.563000	0.77884	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_181489			58	58		281	277	0		1	1		0	0	70	0		1	4.749730e-01	0	2	0	7	0	58	281
ZNF660	285349	broad.mit.edu	37	3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	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)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438																																						ENST00000322734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(184-186)aGt>aTt		zinc finger protein 660							103.0	99.0	100.0					3																	44635870		2203	4300	6503	SO:0001583	missense	285349	0	0					g.chr3:44635870G>T	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.185G>T	chr3.hg19:g.44635870G>T	ENSP00000324605:p.Ser62Ile	0					RP11-944L7.4_ENST00000457331.1_RNA	p.S62I	NM_173658.2	NP_775929.2	1	2	3	1.998468	Q6AZW8	ZN660_HUMAN		3	518	+			Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	1	1	hg19	c.185G>T	CCDS2716.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765432	0.49574	.	.	ENSG00000144792	ENST00000322734	T	0.07800	3.16	4.46	3.57	0.40892	4.46	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.25332	0.735	0.25836	N	0.984119	B	0.24576	0.106	B	0.23150	0.044	T	0.30060	-0.9991	8	.	.	.	.	5.1292	0.14901	0.1005:0.0:0.5758:0.3236	.	62	Q6AZW8	ZN660_HUMAN	I	62	ENSP00000324605:S62I	.	S	+	2	0	0	ZNF660	44610874	44610874	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.305000	0.08188	2.469000	0.83416	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_173658			77	75		227	219	1		1	0		0	0	69	0		1	6.559366e-02	0	0	0	2	0	77	227
ZNF660	285349	broad.mit.edu	37	3	44636401	44636401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44636401T>G	ENST00000322734.2	+	3	1049	c.716T>G	c.(715-717)cTt>cGt	p.L239R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	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)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CACCAGAGACTTCATCGTAGA	0.388																																						ENST00000322734.2	1.000000	0.130000	4.000000e-01	1.900000e-01	0.270000	0.326472	0.270000	0.260000																										0				6						c.(715-717)cTt>cGt		zinc finger protein 660							74.0	77.0	76.0					3																	44636401		2203	4300	6503	SO:0001583	missense	285349	0	0					g.chr3:44636401T>G	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.716T>G	chr3.hg19:g.44636401T>G	ENSP00000324605:p.Leu239Arg	0					RP11-944L7.4_ENST00000457331.1_RNA	p.L239R	NM_173658.2	NP_775929.2	1	2	3	1.998468	Q6AZW8	ZN660_HUMAN		3	1049	+			Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	0	1	hg19	c.716T>G	CCDS2716.1	0	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454121	0.63290	.	.	ENSG00000144792	ENST00000322734	T	0.13307	2.6	4.35	4.35	0.52113	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.16016	0.355	0.80722	D	1	D	0.55385	0.971	P	0.46144	0.505	T	0.24870	-1.0148	8	.	.	.	.	12.9362	0.58316	0.0:0.0:0.0:1.0	.	239	Q6AZW8	ZN660_HUMAN	R	239	ENSP00000324605:L239R	.	L	+	2	0	0	ZNF660	44611405	44611405	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.376000	0.20535	1.943000	0.56356	0.528000	0.53228	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-8.668026	1	0.170000	NM_173658			9	9		397	387	0		1			0	0	69	0		9.936537e-01	0	0	0	0	0	0	9	397
ZNF35	7584	broad.mit.edu	37	3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	382					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468																																						ENST00000396056.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(1144-1146)Cga>Tga		zinc finger protein 35							67.0	76.0	73.0					3																	44700999		2203	4300	6503	SO:0001587	stop_gained	7584	0	0					g.chr3:44700999C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1144C>T	chr3.hg19:g.44700999C>T	ENSP00000379368:p.Arg382*	0					ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	p.R382*	NM_003420.3	NP_003411.3	1	2	3	1.998468	P13682	ZNF35_HUMAN		4	1379	+		Ovarian(412;0.0228)	B2RBU6|Q53Y54|Q96D01	Nonsense_Mutation	SNP	ENST00000396056.2	0	1	hg19	c.1144C>T	CCDS2718.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.886527	0.97068	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	5.29	3.41	0.39046	5.29	3.41	0.39046	.	0.000000	0.37669	N	0.001982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7148	12.6574	0.56795	0.4732:0.5268:0.0:0.0	.	.	.	.	X	382;222	.	ENSP00000379368:R382X	R	+	1	2	2	ZNF35	44676003	44676003	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.397000	0.07269	1.441000	0.47550	0.561000	0.74099	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.348300	1	0.170000	NM_003420			41	40		213	212	1		1	1		0	0	70	0		1	9.239532e-01	0	3	0	22	0	41	213
ZNF502	91392	broad.mit.edu	37	3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	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	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TCTTCTTTTCGAAAACACTCA	0.408																																						ENST00000296091.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(913-915)cGa>cAa		zinc finger protein 502							160.0	167.0	165.0					3																	44763223		2203	4300	6503	SO:0001583	missense	91392	0	0					g.chr3:44763223G>A	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.914G>A	chr3.hg19:g.44763223G>A	ENSP00000296091:p.Arg305Gln	0					ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	1	2	3	1.998468	Q8TBZ5	ZN502_HUMAN		4	1170	+				Missense_Mutation	SNP	ENST00000296091.4	1	1	hg19	c.914G>A	CCDS2719.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.531824|2.531824	0.45073|0.45073	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	4.27|4.27	2.42|2.42	0.29668|0.29668	4.27|4.27	2.42|2.42	0.29668|0.29668	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.45698|0.45698	1.435|1.435	0.09310|0.09310	N|N	1|1	.|P	.|0.46987	.|0.888	.|B	.|0.42593	.|0.392	T|T	0.20306|0.20306	-1.0279|-1.0279	6|9	0.33141|0.62326	T|D	0.24|0.03	-0.978|-0.978	2.7889|2.7889	0.05381|0.05381	0.102:0.1842:0.5241:0.1897|0.102:0.1842:0.5241:0.1897	.|.	.|305	.|Q8TBZ5	.|ZN502_HUMAN	K|Q	305|305	.|ENSP00000397390:R305Q;ENSP00000296091:R305Q;ENSP00000406469:R305Q	ENSP00000397812:E305K|ENSP00000296091:R305Q	E|R	+|+	1|2	0|0	0|0	ZNF502|ZNF502	44738227|44738227	44738227|44738227	0.000000|0.000000	0.05858|0.05858	0.261000|0.261000	0.24466|0.24466	0.936000|0.936000	0.57629|0.57629	-0.329000|-0.329000	0.07935|0.07935	0.540000|0.540000	0.28808|0.28808	0.655000|0.655000	0.94253|0.94253	GAA|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	1	0	1		2	2	2	0		0	0	190		190	189	1	2.060000	-20.000000	1	0.170000	NM_033210			203	197		867	850	1		1	0		0	0	190	0		1	3.957556e-01	0	1	0	6	0	203	867
ZNF501	115560	broad.mit.edu	37	3	44776675	44776675	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GTGGGAAATCCTTTAGGCACA	0.403																																						ENST00000396048.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(760-762)tcC>tcA		zinc finger protein 501							70.0	72.0	71.0					3																	44776675		2031	4228	6259	SO:0001819	synonymous_variant	115560	0	0					g.chr3:44776675C>A	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.762C>A	chr3.hg19:g.44776675C>A		0					KIAA1143_ENST00000484437.1_5'Flank	p.S254S	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	1	2	3	1.998468	Q96CX3	ZN501_HUMAN		3	1199	+			B4DLY7|Q96NU9	Silent	SNP	ENST00000396048.2	1	1	hg19	c.762C>A	CCDS2720.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.761961	1	0.170000	NM_145044			58	56		251	247	1		1	1		0	0	60	0		1	9.086171e-01	0	2	0	18	0	58	251
KIAA1143	57456	broad.mit.edu	37	3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	26										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)		TCCCTGTAGCCGACCCGTTCC	0.592																																						ENST00000296121.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(76-78)Ggc>Agc		KIAA1143							32.0	38.0	36.0					3																	44803019		2203	4300	6503	SO:0001583	missense	57456	1	121410	22				g.chr3:44803019C>T	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.76G>A	chr3.hg19:g.44803019C>T	ENSP00000296121:p.Gly26Ser	0					KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	p.G26S	NM_020696.3	NP_065747.1	1	2	3	1.998468	Q96AT1	K1143_HUMAN		1	135	-			A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	1	1	hg19	c.76G>A	CCDS2721.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.828275	0.96996	.	.	ENSG00000163807	ENST00000296121	T	0.56444	0.46	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78555	-0.2159	9	.	.	.	-14.2314	18.8395	0.92177	0.0:1.0:0.0:0.0	.	26	Q96AT1	K1143_HUMAN	S	26	ENSP00000296121:G26S	.	G	-	1	0	0	KIAA1143	44778023	44778023	1.000000	0.71417	0.982000	0.44146	0.922000	0.55478	5.590000	0.67530	2.762000	0.94881	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_020696			52	52		212	208	1		1	1		0	0	54	0		1	9.992425e-01	0	13	0	34	0	52	212
KIF15	56992	broad.mit.edu	37	3	44867540	44867540	+	Silent	SNP	C	C	T	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	853					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)			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)		GGTTAGAAAACGAAAAGCTGC	0.308																																						ENST00000326047.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.998208	0.990000	1.000000																										0				36						c.(2557-2559)aaC>aaT		kinesin family member 15		C		0,4404		0,0,2202	48.0	54.0	52.0		2559	0.4	1.0	3	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF15	NM_020242.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		853/1389	44867540	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	56992	4	121396	36				g.chr3:44867540C>T	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.2559C>T	chr3.hg19:g.44867540C>T		0					KIF15_ENST00000425755.1_Silent_p.N488N	p.N853N	NM_020242.2	NP_064627.1	1	2	3	1.998468	Q9NS87	KIF15_HUMAN		21	2708	+			Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	1	1	hg19	c.2559C>T	CCDS33744.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-15.200900	1	0.170000				37	36		285	283	1		1	0		0	0	60	0		1	7.127896e-02	0	0	0	4	0	37	285
KIF15	56992	broad.mit.edu	37	3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	899					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)			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)		GAAATCTGATCTGAATGTATG	0.368																																						ENST00000326047.4	1.000000	0.240000	5.000000e-01	3.100000e-01	0.390000	0.431803	0.390000	0.390000																										0				36						c.(2695-2697)Ctg>Atg		kinesin family member 15							118.0	134.0	129.0					3																	44867676		2202	4300	6502	SO:0001583	missense	56992	0	0					g.chr3:44867676C>A	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.2695C>A	chr3.hg19:g.44867676C>A	ENSP00000324020:p.Leu899Met	0					KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	p.L899M	NM_020242.2	NP_064627.1	1	2	3	1.998468	Q9NS87	KIF15_HUMAN		21	2844	+			Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	1	1	hg19	c.2695C>A	CCDS33744.1	0	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983609	0.53827	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59906	0.23;0.23;0.23	5.72	4.85	0.62838	5.72	4.85	0.62838	.	0.000000	0.40908	D	0.000998	T	0.70859	0.3272	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.73493	-0.3965	10	0.59425	D	0.04	.	13.7611	0.62966	0.0:0.9248:0.0:0.0752	.	899	Q9NS87	KIF15_HUMAN	M	899;671;898;534	ENSP00000324020:L899M;ENSP00000425499:L671M;ENSP00000389982:L534M	ENSP00000324020:L899M	L	+	1	2	2	KIF15	44842680	44842680	0.712000	0.27916	0.985000	0.45067	0.522000	0.34438	1.053000	0.30442	1.431000	0.47355	0.591000	0.81541	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	0	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-3.090231	1	0.170000				21	21		626	613	0		1	0		0	0	156	0		9.999969e-01	3.509995e-03	0	0	0	3	0	21	626
KIF15	56992	broad.mit.edu	37	3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1020					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)			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)		GCAAATACAACTCTGCTTTGG	0.383																																						ENST00000326047.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3058-3060)aaC>aaA		kinesin family member 15							109.0	106.0	107.0					3																	44872399		2203	4300	6503	SO:0001583	missense	56992	0	0					g.chr3:44872399C>A	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.3060C>A	chr3.hg19:g.44872399C>A	ENSP00000324020:p.Asn1020Lys	0					KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	p.N1020K	NM_020242.2	NP_064627.1	1	2	3	1.998468	Q9NS87	KIF15_HUMAN		26	3209	+			Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	1	1	hg19	c.3060C>A	CCDS33744.1	1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714539	0.48622	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	6.06	2.31	0.28768	6.06	2.31	0.28768	.	0.222711	0.30791	N	0.008861	T	0.34366	0.0895	M	0.62723	1.935	0.29249	N	0.872134	P	0.42078	0.77	B	0.38803	0.282	T	0.20974	-1.0259	10	0.26408	T	0.33	.	7.2452	0.26117	0.0:0.4867:0.0:0.5133	.	1020	Q9NS87	KIF15_HUMAN	K	1020;1019;655	ENSP00000324020:N1020K;ENSP00000389982:N655K	ENSP00000324020:N1020K	N	+	3	2	2	KIF15	44847403	44847403	0.018000	0.18449	0.989000	0.46669	0.997000	0.91878	0.340000	0.19892	0.442000	0.26555	0.655000	0.94253	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				96	93		383	373	1		1	1		0	0	72	0		1	4.272598e-01	0	2	0	5	0	96	383
TGM4	7047	broad.mit.edu	37	3	44929289	44929289	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						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)			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)	GGCAAAGAGGTGAGCACCCAC	0.597																																						ENST00000296125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.e3+2		transglutaminase 4	L-Glutamine(DB00130)						62.0	57.0	59.0					3																	44929289		2203	4300	6503	SO:0001630	splice_region_variant	7047	0	0					g.chr3:44929289T>C	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.300+2T>C	chr3.hg19:g.44929289T>C		0							NM_003241.3	NP_003232.2	1	2	3	1.998468	P49221	TGM4_HUMAN		3	368	+			Q16707|Q96QN4	Splice_Site	SNP	ENST00000296125.4	1	1	hg19		CCDS2723.1	1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440020	0.12104	.	.	ENSG00000163810	ENST00000296125	.	.	.	1.43	0.123	0.14709	1.43	0.123	0.14709	.	.	.	.	.	.	.	.	.	.	.	0.23210	N	0.99811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2294	0.10596	0.0:0.0:0.3643:0.6357	.	.	.	.	.	-1	.	.	.	+	.	.	.	TGM4	44904293	44904293	0.905000	0.30787	0.120000	0.21714	0.050000	0.14768	0.458000	0.21892	0.024000	0.15214	0.383000	0.25322	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_003241	Intron		38	37		154	153	1		1			0	0	41	0		1	0	0	0	0	0	0	38	154
TGM4	7047	broad.mit.edu	37	3	44943361	44943361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	303					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.T303T(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)	GGAACCTCACGGTGGACACCT	0.542																																						ENST00000296125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T303T(1)	large_intestine(1)	38						c.(907-909)acG>acA		transglutaminase 4	L-Glutamine(DB00130)						127.0	117.0	121.0					3																	44943361		2203	4300	6503	SO:0001819	synonymous_variant	7047	0	0					g.chr3:44943361G>A	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.909G>A	chr3.hg19:g.44943361G>A		0					RP11-272D20.2_ENST00000427258.1_RNA	p.T303T	NM_003241.3	NP_003232.2	1	2	3	1.998468	P49221	TGM4_HUMAN		8	977	+			Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	1	1	hg19	c.909G>A	CCDS2723.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-2.901267	1	0.170000	NM_003241			46	43		207	199	1		1			0	0	53	0		1	0	0	0	0	0	0	46	207
CDCP1	64866	broad.mit.edu	37	3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	42						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438																																						ENST00000296129.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(124-126)Gtt>Att		CUB domain containing protein 1							93.0	93.0	93.0					3																	45160072		2203	4300	6503	SO:0001583	missense	64866	0	0					g.chr3:45160072C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.124G>A	chr3.hg19:g.45160072C>T	ENSP00000296129:p.Val42Ile	0					CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	p.V42I	NM_022842.3	NP_073753.3	1	2	3	1.998468	Q9H5V8	CDCP1_HUMAN		2	258	-			Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	1	1	hg19	c.124G>A	CCDS2727.1	1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635392	0.29068	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.53857	1.83;0.6	5.33	-1.17	0.09648	5.33	-1.17	0.09648	.	0.485400	0.22915	N	0.054087	T	0.32852	0.0843	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.007;0.011	T	0.30268	-0.9984	10	0.07813	T	0.8	-4.6003	7.1109	0.25390	0.0:0.3763:0.1189:0.5048	.	42;42	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	42	ENSP00000296129:V42I;ENSP00000399342:V42I	ENSP00000296129:V42I	V	-	1	0	0	CDCP1	45135076	45135076	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.837000	0.04377	-0.434000	0.07275	0.561000	0.74099	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000	NM_022842			63	63		323	315	1		1	1		0	0	92	0		1	9.999977e-01	0	37	0	62	0	63	323
LARS2	23395	broad.mit.edu	37	3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000414984.1_Missense_Mutation_p.A96T|LARS2_ENST00000265537.3_Missense_Mutation_p.A139T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	139					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)			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)	TGAAAATGCCGCAGTCGAGAG	0.398																																						ENST00000415258.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(415-417)Gca>Aca		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)	G	THR/ALA	0,4406		0,0,2203	128.0	121.0	123.0		415	5.7	0.2	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	139/904	45459025	1,13005	2203	4300	6503	SO:0001583	missense	23395	1	121412	36				g.chr3:45459025G>A	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.415G>A	chr3.hg19:g.45459025G>A	ENSP00000408576:p.Ala139Thr	0					LARS2_ENST00000414984.1_Missense_Mutation_p.A96T|LARS2_ENST00000265537.3_Missense_Mutation_p.A139T	p.A139T			1	2	3	1.998468	Q15031	SYLM_HUMAN		4	556	+				Missense_Mutation	SNP	ENST00000415258.1	1	1	hg19	c.415G>A	CCDS2728.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627418	0.66901	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	D;D;D;T	0.81908	-1.55;-1.55;-1.55;1.61	5.74	5.74	0.90152	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053586	0.64402	D	0.000001	D	0.94013	0.8082	H	0.97918	4.105	0.58432	D	0.999991	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	D	0.95830	0.8857	10	0.87932	D	0	-25.8708	16.8525	0.85998	0.0:0.0:1.0:0.0	.	96;139	E9PHM2;Q15031	.;SYLM_HUMAN	T	139;139;96;96	ENSP00000265537:A139T;ENSP00000408576:A139T;ENSP00000412893:A96T;ENSP00000406611:A96T	ENSP00000265537:A139T	A	+	1	0	0	LARS2	45434029	45434029	1.000000	0.71417	0.150000	0.22450	0.247000	0.25773	6.910000	0.75741	2.715000	0.92844	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-5.464220	1	0.170000	NM_015340			102	100		292	286	1		1	1		0	0	65	0		1	9.992988e-01	0	9	0	25	0	102	292
LARS2	23395	broad.mit.edu	37	3	45530205	45530205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45530205C>T	ENST00000415258.1	+	11	1281	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LARS2_ENST00000414984.1_Silent_p.S337S|LARS2_ENST00000265537.3_Silent_p.S380S|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					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)			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)	CCAGTACTAGCTCAGAGGACA	0.473																																						ENST00000415258.1	1.000000	0.280000	7.100000e-01	3.800000e-01	0.520000	0.555109	0.520000	0.500000																										0				18						c.(1138-1140)agC>agT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						87.0	83.0	84.0					3																	45530205		2203	4300	6503	SO:0001819	synonymous_variant	23395	0	0					g.chr3:45530205C>T	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.1140C>T	chr3.hg19:g.45530205C>T		0					LARS2_ENST00000414984.1_Silent_p.S337S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Silent_p.S380S	p.S380S			1	2	3	1.998468	Q15031	SYLM_HUMAN		11	1281	+				Silent	SNP	ENST00000415258.1	1	1	hg19	c.1140C>T	CCDS2728.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-4.264136	1	0.170000	NM_015340			12	11		272	267	0		1	1		0	0	89	0		9.990548e-01	5.454212e-01	0	3	0	38	0	12	272
LIMD1	8994	broad.mit.edu	37	3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000273317.4	+	1	622	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	201	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597																																						ENST00000273317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(601-603)Ggc>Agc		LIM domains containing 1							79.0	78.0	79.0					3																	45636972		2203	4300	6503	SO:0001583	missense	8994	0	0					g.chr3:45636972G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.601G>A	chr3.hg19:g.45636972G>A	ENSP00000273317:p.Gly201Ser	0					LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S|LIMD1_ENST00000465039.1_Intron	p.G201S	NM_014240.2	NP_055055.1	1	2	3	1.998468	Q9UGP4	LIMD1_HUMAN		1	622	+			Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	1	1	hg19	c.601G>A	CCDS2729.1	1	.	.	.	.	.	.	.	.	.	.	G	0.593	-0.832142	0.02713	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56275	0.47;0.67	4.7	0.984	0.19773	4.7	0.984	0.19773	.	1.041780	0.07538	N	0.913381	T	0.23611	0.0571	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	.	7.038	0.25004	0.7254:0.0:0.2746:0.0	.	201	Q9UGP4	LIMD1_HUMAN	S	201	ENSP00000394537:G201S;ENSP00000273317:G201S	ENSP00000273317:G201S	G	+	1	0	0	LIMD1	45611976	45611976	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.767000	0.26575	-0.067000	0.12976	-0.379000	0.06801	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.168421	1	0.170000	NM_014240			63	63		314	311	1		1	1		0	0	64	0		1	9.884698e-01	0	9	0	28	0	63	314
LIMD1	8994	broad.mit.edu	37	3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000273317.4	+	1	1035	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	338					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617																																						ENST00000273317.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1012-1014)caG>caT		LIM domains containing 1							84.0	86.0	85.0					3																	45637385		2203	4300	6503	SO:0001583	missense	8994	0	0					g.chr3:45637385G>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1014G>T	chr3.hg19:g.45637385G>T	ENSP00000273317:p.Gln338His	0					LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H|LIMD1_ENST00000465039.1_Intron	p.Q338H	NM_014240.2	NP_055055.1	1	2	3	1.998468	Q9UGP4	LIMD1_HUMAN		1	1035	+			Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	1	1	hg19	c.1014G>T	CCDS2729.1	1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.933986	0.18206	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.73	-1.52	0.08637	4.73	-1.52	0.08637	.	1.897850	0.02198	N	0.062043	T	0.39200	0.1069	N	0.19112	0.55	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	10	0.38643	T	0.18	.	2.7735	0.05341	0.2436:0.114:0.5113:0.1311	.	338	Q9UGP4	LIMD1_HUMAN	H	338	ENSP00000394537:Q338H;ENSP00000273317:Q338H	ENSP00000273317:Q338H	Q	+	3	2	2	LIMD1	45612389	45612389	0.008000	0.16893	0.753000	0.31225	0.579000	0.36224	-0.313000	0.08103	-0.172000	0.10779	-0.150000	0.13652	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.159560	1	0.170000	NM_014240			80	80		398	394	1		1	1		0	0	86	0		1	9.888205e-01	0	4	0	33	0	80	398
SLC6A20	54716	broad.mit.edu	37	3	45800611	45800611	+	Silent	SNP	G	G	A	rs369964980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	546					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622																																						ENST00000358525.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1636-1638)ctC>ctT		solute carrier family 6 (proline IMINO transporter), member 20		G	,	0,4406		0,0,2203	53.0	52.0	52.0		1638,1527	-5.9	0.7	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	546/593,509/556	45800611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54716	5	121412	37				g.chr3:45800611G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1638C>T	chr3.hg19:g.45800611G>A		0					SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Silent_p.L509L	p.L546L	NM_020208.3	NP_064593.1	1	2	3	1.998468	Q9NP91	S6A20_HUMAN		11	1753	-			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	1	1	hg19	c.1638C>T	CCDS43077.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_020208			50	48		197	193	1		1	1		0	0	52	0		1	9.999972e-01	0	23	0	56	0	50	197
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	426					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632																																						ENST00000358525.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1276-1278)aGc>aTc		solute carrier family 6 (proline IMINO transporter), member 20							68.0	58.0	62.0					3																	45807055		2203	4300	6503	SO:0001583	missense	54716	0	0					g.chr3:45807055C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1277G>T	chr3.hg19:g.45807055C>A	ENSP00000346298:p.Ser426Ile	0					SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I	p.S426I	NM_020208.3	NP_064593.1	1	2	3	1.998468	Q9NP91	S6A20_HUMAN		8	1392	-			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	1	1	hg19	c.1277G>T	CCDS43077.1	1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	3.83	0.44106	5.71	3.83	0.44106	.	0.394675	0.27604	N	0.018634	T	0.51024	0.1650	N	0.04297	-0.235	0.28033	N	0.934041	P;P	0.36144	0.483;0.539	B;B	0.40410	0.144;0.328	T	0.45131	-0.9282	10	0.23302	T	0.38	.	6.5329	0.22336	0.0:0.5856:0.2461:0.1682	.	389;426	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	389;426;426	ENSP00000296133:S389I;ENSP00000346298:S426I;ENSP00000404310:S426I	ENSP00000296133:S389I	S	-	2	0	0	SLC6A20	45782059	45782059	0.139000	0.22563	0.709000	0.30452	0.970000	0.65996	1.277000	0.33167	1.412000	0.46977	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_020208			28	28		110	108	1		1	1		0	0	32	0		1	9.999997e-01	0	42	0	63	0	28	110
SLC6A20	54716	broad.mit.edu	37	3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	254					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582																																						ENST00000358525.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(760-762)Ctg>Atg		solute carrier family 6 (proline IMINO transporter), member 20							144.0	121.0	129.0					3																	45812884		2203	4300	6503	SO:0001583	missense	54716	0	0					g.chr3:45812884G>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.760C>A	chr3.hg19:g.45812884G>T	ENSP00000346298:p.Leu254Met	0					SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	p.L254M	NM_020208.3	NP_064593.1	1	2	3	1.998468	Q9NP91	S6A20_HUMAN		6	875	-			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	1	1	hg19	c.760C>A	CCDS43077.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610749	0.66558	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.05	3.22	0.36961	5.05	3.22	0.36961	.	0.000000	0.64402	D	0.000003	D	0.88366	0.6417	M	0.88570	2.965	0.38052	D	0.935792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89369	0.3673	10	0.72032	D	0.01	.	10.8715	0.46885	0.158:0.0:0.842:0.0	.	217;254	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	217;254;254;207	ENSP00000296133:L217M;ENSP00000346298:L254M;ENSP00000404310:L254M;ENSP00000395506:L207M	ENSP00000296133:L217M	L	-	1	2	2	SLC6A20	45787888	45787888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.690000	0.54713	0.499000	0.27970	0.467000	0.42956	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_020208			55	54		245	233	1		1	1		0	0	49	0		1	9.999765e-01	0	23	0	50	0	55	245
CCR9	10803	broad.mit.edu	37	3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000357632.2	+	3	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	CCR9_ENST00000422395.1_Silent_p.V96V|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	68					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)			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)		GGGCAACAGTCTTGTTATCCT	0.473																																						ENST00000357632.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(202-204)Ctt>Att		chemokine (C-C motif) receptor 9							261.0	218.0	233.0					3																	45942482		2203	4300	6503	SO:0001583	missense	10803	0	0					g.chr3:45942482C>A	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.202C>A	chr3.hg19:g.45942482C>A	ENSP00000350256:p.Leu68Ile	0					LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Silent_p.V96V|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron	p.L68I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	1	2	3	1.998468	P51686	CCR9_HUMAN		3	382	+			Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	1	1	hg19	c.202C>A	CCDS2732.1	1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038359	0.35989	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.77877	-1.13;-1.13;-1.13	5.14	5.14	0.70334	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.086825	0.48767	D	0.000176	D	0.86188	0.5873	M	0.82323	2.585	0.48696	D	0.999692	D	0.76494	0.999	D	0.75020	0.985	D	0.87005	0.2119	10	0.72032	D	0.01	.	6.6875	0.23154	0.0:0.7802:0.0:0.2198	.	68	P51686	CCR9_HUMAN	I	68;56;56	ENSP00000350256:L68I;ENSP00000379292:L56I;ENSP00000348260:L56I	ENSP00000348260:L56I	L	+	1	0	0	CCR9	45917486	45917486	0.925000	0.31364	0.943000	0.38184	0.007000	0.05969	1.241000	0.32743	2.392000	0.81423	0.563000	0.77884	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				215	207		821	797	1		1	0		0	0	136	0		1	0	0	0	0	1	0	215	821
FYCO1	79443	broad.mit.edu	37	3	46000959	46000959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46000959G>A	ENST00000296137.2	-	12	3718	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	FYCO1_ENST00000535325.1_Silent_p.L1171L|FYCO1_ENST00000438446.1_5'Flank	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1171					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)			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)		CTGTGTCTCCGAGCCATCTCT	0.577																																						ENST00000296137.2	1.000000	0.160000	4.400000e-01	2.300000e-01	0.320000	0.364180	0.320000	0.300000																										0				54						c.(3511-3513)ctC>ctT		FYVE and coiled-coil domain containing 1							91.0	75.0	81.0					3																	46000959		2203	4300	6503	SO:0001819	synonymous_variant	79443	1	121412	27				g.chr3:46000959G>A	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.3513C>T	chr3.hg19:g.46000959G>A		0					FYCO1_ENST00000535325.1_Silent_p.L1171L|FYCO1_ENST00000438446.1_5'Flank	p.L1171L	NM_024513.3	NP_078789.2	1	2	3	1.998468	Q9BQS8	FYCO1_HUMAN		12	3718	-			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	0	1	hg19	c.3513C>T	CCDS2734.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-3.318917	1	0.170000	NM_024513			11	10		417	408	0		1	1		0	0	80	0		9.981265e-01	6.994160e-01	0	4	0	88	0	11	417
FYCO1	79443	broad.mit.edu	37	3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	824					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)			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)		GCACAAGGGTTTTGTGCTCCC	0.607																																						ENST00000296137.2	1.000000	0.750000	1	9.100000e-01	0.990000	0.967566	0.990000	1.000000																										0				54						c.(2470-2472)aaA>aaC		FYVE and coiled-coil domain containing 1							78.0	74.0	75.0					3																	46008354		2203	4300	6503	SO:0001583	missense	79443	0	0					g.chr3:46008354T>G	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.2472A>C	chr3.hg19:g.46008354T>G	ENSP00000296137:p.Lys824Asn	0					FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	p.K824N	NM_024513.3	NP_078789.2	1	2	3	1.998468	Q9BQS8	FYCO1_HUMAN		8	2677	-			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	1	1	hg19	c.2472A>C	CCDS2734.1	1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332887	0.24167	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.9;1.91	5.66	1.39	0.22231	5.66	1.39	0.22231	.	0.532153	0.21892	N	0.067569	T	0.21761	0.0524	L	0.54323	1.7	0.09310	N	1	P;P	0.51653	0.947;0.736	B;B	0.40444	0.329;0.205	T	0.14476	-1.0471	10	0.31617	T	0.26	-25.2254	10.9744	0.47456	0.0:0.6381:0.0:0.3619	.	824;824	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	824	ENSP00000296137:K824N;ENSP00000441178:K824N	ENSP00000296137:K824N	K	-	3	2	2	FYCO1	45983358	45983358	0.015000	0.18098	0.196000	0.23383	0.560000	0.35617	0.498000	0.22530	0.360000	0.24265	-0.132000	0.14878	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_024513			31	31		309	304	0		1	1		0	0	67	0		1	9.911671e-01	0	7	0	69	0	31	309
FYCO1	79443	broad.mit.edu	37	3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	774					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)			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)		TGCGCCTGAGACAGGGCTAGC	0.632																																						ENST00000296137.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2320-2322)Tct>Cct		FYVE and coiled-coil domain containing 1							55.0	56.0	56.0					3																	46008506		2203	4300	6503	SO:0001583	missense	79443	0	0					g.chr3:46008506A>G	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.2320T>C	chr3.hg19:g.46008506A>G	ENSP00000296137:p.Ser774Pro	0					FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	p.S774P	NM_024513.3	NP_078789.2	1	2	3	1.998468	Q9BQS8	FYCO1_HUMAN		8	2525	-			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	1	1	hg19	c.2320T>C	CCDS2734.1	1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209595	0.22289	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21543	2.0;2.0	5.55	-0.343	0.12632	5.55	-0.343	0.12632	.	0.902870	0.09603	N	0.779956	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	P;B	0.36086	0.536;0.403	B;B	0.37198	0.243;0.086	T	0.26395	-1.0104	10	0.35671	T	0.21	-0.2682	8.0651	0.30657	0.382:0.4815:0.0:0.1365	.	774;774	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	P	774	ENSP00000296137:S774P;ENSP00000441178:S774P	ENSP00000296137:S774P	S	-	1	0	0	FYCO1	45983510	45983510	0.000000	0.05858	0.480000	0.27341	0.566000	0.35808	0.052000	0.14163	0.355000	0.24131	0.533000	0.62120	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_024513			82	82		351	348	1		1	1		0	0	104	0		1	9.950373e-01	0	10	0	27	0	82	351
FYCO1	79443	broad.mit.edu	37	3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	355					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)			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)		CAGTGAGTCCCGTGTGGCCTC	0.602																																						ENST00000296137.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1063-1065)cGg>cAg		FYVE and coiled-coil domain containing 1							78.0	80.0	80.0					3																	46009762		2203	4300	6503	SO:0001583	missense	79443	3	121412	38				g.chr3:46009762C>T	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.1064G>A	chr3.hg19:g.46009762C>T	ENSP00000296137:p.Arg355Gln	0					FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	p.R355Q	NM_024513.3	NP_078789.2	1	2	3	1.998468	Q9BQS8	FYCO1_HUMAN		8	1269	-			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	1	1	hg19	c.1064G>A	CCDS2734.1	1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455606	0.12283	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.97;1.95	5.66	1.48	0.22813	5.66	1.48	0.22813	.	0.449418	0.23916	N	0.043297	T	0.18551	0.0445	M	0.63843	1.955	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.42112	0.376;0.333	T	0.23619	-1.0183	10	0.19147	T	0.46	-19.4947	8.2526	0.31735	0.0:0.6544:0.0:0.3456	.	355;355	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	355	ENSP00000296137:R355Q;ENSP00000441178:R355Q	ENSP00000296137:R355Q	R	-	2	0	0	FYCO1	45984766	45984766	0.000000	0.05858	0.017000	0.16124	0.071000	0.16799	-1.523000	0.02235	-0.020000	0.14032	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-2.551211	1	0.170000	NM_024513			148	144		591	581	1		1	1		0	0	133	0		1	9.999963e-01	0	8	0	64	0	148	591
XCR1	2829	broad.mit.edu	37	3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	165					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGAAGATGGTGTCGAGGAT	0.607																																						ENST00000309285.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				14						c.(493-495)aCc>aTc		chemokine (C motif) receptor 1							61.0	61.0	61.0					3																	46062946		2203	4300	6503	SO:0001583	missense	2829	0	0					g.chr3:46062946G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.494C>T	chr3.hg19:g.46062946G>A	ENSP00000310405:p.Thr165Ile	0					XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	p.T165I	NM_001024644.1	NP_001019815.1	1	2	3	1.998468	P46094	XCR1_HUMAN		2	850	-				Missense_Mutation	SNP	ENST00000309285.3	1	1	hg19	c.494C>T	CCDS2736.1	1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919378	0.02396	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36520	1.25;1.25	5.57	5.57	0.84162	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.773393	0.12567	N	0.457631	T	0.12860	0.0312	N	0.02266	-0.62	0.19575	N	0.999965	B	0.14012	0.009	B	0.13407	0.009	T	0.31724	-0.9933	10	0.02654	T	1	.	7.2787	0.26300	0.2029:0.0:0.7971:0.0	.	165	P46094	XCR1_HUMAN	I	165	ENSP00000310405:T165I;ENSP00000438119:T165I	ENSP00000310405:T165I	T	-	2	0	0	XCR1	46037950	46037950	0.004000	0.15560	0.246000	0.24233	0.005000	0.04900	1.657000	0.37366	2.626000	0.88956	0.650000	0.86243	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				30	30		153	148	1		1	0		0	0	29	0		1	7.631161e-02	0	0	0	3	0	30	153
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552																																						ENST00000309285.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(61-63)cCg>cTg		chemokine (C motif) receptor 1							78.0	80.0	79.0					3																	46063378		2203	4300	6503	SO:0001583	missense	2829	3	121412	36				g.chr3:46063378G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	chr3.hg19:g.46063378G>A	ENSP00000310405:p.Pro21Leu	0					XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	p.P21L	NM_001024644.1	NP_001019815.1	1	2	3	1.998468	P46094	XCR1_HUMAN		2	418	-				Missense_Mutation	SNP	ENST00000309285.3	1	1	hg19	c.62C>T	CCDS2736.1	1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	0	XCR1	46038382	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.752395	1	0.170000				57	56		281	274	1		1	0		0	0	71	0		1	0	0	0	0	1	0	57	281
CCR1	1230	broad.mit.edu	37	3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A	rs181920971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	319					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592																																						ENST00000296140.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(955-957)Cgt>Tgt		chemokine (C-C motif) receptor 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	80.0	85.0		955	0.2	0.0	3		85	0,8600		0,0,4300	no	missense	CCR1	NM_001295.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	319/356	46244850	1,13005	2203	4300	6503	SO:0001583	missense	1230	6	121412	40				g.chr3:46244850G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.955C>T	chr3.hg19:g.46244850G>A	ENSP00000296140:p.Arg319Cys	0					CCR3_ENST00000357422.2_Intron	p.R319C	NM_001295.2	NP_001286.1	1	2	3	1.998468	P32246	CCR1_HUMAN		2	1080	-			Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	1	1	hg19	c.955C>T	CCDS2737.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.83	2.055942	0.36277	2.27E-4	0.0	ENSG00000163823	ENST00000296140	T	0.37584	1.19	5.31	0.176	0.15049	5.31	0.176	0.15049	.	0.974131	0.08385	N	0.953839	T	0.21801	0.0525	N	0.04994	-0.135	0.09310	N	1	D	0.54207	0.965	P	0.48677	0.586	T	0.09862	-1.0655	10	0.51188	T	0.08	.	3.7884	0.08710	0.1929:0.1125:0.5783:0.1163	.	319	P32246	CCR1_HUMAN	C	319	ENSP00000296140:R319C	ENSP00000296140:R319C	R	-	1	0	0	CCR1	46219854	46219854	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.181000	0.09740	-0.185000	0.10550	0.561000	0.74099	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_001295			53	52		205	201	1		1	0		0	0	53	0		1	9.999966e-01	0	0	0	76	0	53	205
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	G	A	rs570245777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22539	0.0		0.0	False		,,,				2504	0.001					ENST00000296140.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(271-273)atC>atT		chemokine (C-C motif) receptor 1							149.0	142.0	144.0					3																	46245532		2203	4300	6503	SO:0001819	synonymous_variant	1230	2	121412	34				g.chr3:46245532G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.273C>T	chr3.hg19:g.46245532G>A		0					CCR3_ENST00000357422.2_Intron	p.I91I	NM_001295.2	NP_001286.1	1	2	3	1.998468	P32246	CCR1_HUMAN		2	398	-			Q86VA9	Silent	SNP	ENST00000296140.3	1	1	hg19	c.273C>T	CCDS2737.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.811984	1	0.170000	NM_001295			86	85		327	320	1		1	0		0	0	96	0		1	9.999796e-01	0	0	0	62	0	86	327
CCR2	729230	broad.mit.edu	37	3	46399102	46399102	+	Silent	SNP	C	C	T	rs201767110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000400888.2	+	1	123	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000292301.4_Silent_p.Y28Y			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	28					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20632	0.001		0.0	False		,,,				2504	0.0					ENST00000400888.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(82-84)taC>taT		chemokine (C-C motif) receptor 2							190.0	170.0	176.0					3																	46399102		1568	3582	5150	SO:0001819	synonymous_variant	729230	1	121400	37				g.chr3:46399102C>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.84C>T	chr3.hg19:g.46399102C>T		0					CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000292301.4_Silent_p.Y28Y	p.Y28Y			1	2	3	1.998468	P41597	CCR2_HUMAN		1	123	+			A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	1	1	hg19	c.84C>T	CCDS43078.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	1	0	1		17	2	2	1		1	1	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_000647			109	107		527	519	1		1	0		1	0	136	0		1	6.804423e-01	0	0	0	13	0	109	527
CCRL2	9034	broad.mit.edu	37	3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	97					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433																																						ENST00000399036.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(289-291)gCt>gAt		chemokine (C-C motif) receptor-like 2							86.0	85.0	85.0					3																	46449860		2006	4156	6162	SO:0001583	missense	9034	0	0					g.chr3:46449860C>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.290C>A	chr3.hg19:g.46449860C>A	ENSP00000381994:p.Ala97Asp	0					CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D|CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|RP11-24F11.2_ENST00000451485.1_RNA	p.A97D	NM_003965.4	NP_003956.2	1	2	3	1.998468	O00421	CCRL2_HUMAN		2	642	+			B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	1	1	hg19	c.290C>A	CCDS43079.1	1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090831	0.36855	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.25	3.42	0.39159	5.25	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	3.140400	0.01209	N	0.007788	T	0.29321	0.0730	N	0.17474	0.49	0.09310	N	1	B;B	0.20671	0.038;0.047	B;B	0.19391	0.015;0.025	T	0.30851	-0.9964	10	0.72032	D	0.01	.	8.8988	0.35481	0.1536:0.5197:0.3267:0.0	.	109;97	O00421-2;O00421	.;CCRL2_HUMAN	D	97;109;97;97;97	ENSP00000381994:A97D;ENSP00000349967:A109D;ENSP00000383677:A97D;ENSP00000414957:A97D;ENSP00000383678:A97D	ENSP00000349967:A109D	A	+	2	0	0	CCRL2	46424864	46424864	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	1.614000	0.36911	0.556000	0.29098	0.491000	0.48974	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				64	63		333	328	1		1	1		0	0	69	0		1	9.837450e-01	0	9	0	27	0	64	333
CCRL2	9034	broad.mit.edu	37	3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A	rs376131944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	235					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388																																						ENST00000399036.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(703-705)aGc>aAc		chemokine (C-C motif) receptor-like 2							211.0	210.0	210.0					3																	46450274		1917	4114	6031	SO:0001583	missense	9034	0	0					g.chr3:46450274G>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.704G>A	chr3.hg19:g.46450274G>A	ENSP00000381994:p.Ser235Asn	0					CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|RP11-24F11.2_ENST00000451485.1_RNA	p.S235N	NM_003965.4	NP_003956.2	1	2	3	1.998468	O00421	CCRL2_HUMAN		2	1056	+			B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	1	1	hg19	c.704G>A	CCDS43079.1	1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382199	0.24944	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.49	-4.73	0.03259	4.49	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	2.259790	0.02401	N	0.080709	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.19946	0.016;0.027	T	0.39522	-0.9610	10	0.72032	D	0.01	.	14.0252	0.64582	0.3336:0.0:0.6664:0.0	.	247;235	O00421-2;O00421	.;CCRL2_HUMAN	N	235;247;235;235	ENSP00000381994:S235N;ENSP00000349967:S247N;ENSP00000383677:S235N;ENSP00000383678:S235N	ENSP00000349967:S247N	S	+	2	0	0	CCRL2	46425278	46425278	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.703000	0.05063	-0.747000	0.04759	-0.350000	0.07774	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	1	0	1		2	2	2	0		0	0	304		304	302	1	2.060000	-20.000000	1	0.170000				252	246		1144	1115	1		1	1		0	0	304	0		1	9.968618e-01	0	3	0	38	0	252	1144
LTF	4057	broad.mit.edu	37	3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000231751.4	-	10	1589	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_ENST00000417439.1_Missense_Mutation_p.E430K|LTF_ENST00000426532.2_Missense_Mutation_p.E388K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	432	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CTGTAGTTCTCTGCCAGGACA	0.483																																						ENST00000231751.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1294-1296)Gag>Aag		lactotransferrin							220.0	187.0	198.0					3																	46488808		2203	4296	6499	SO:0001583	missense	4057	0	0					g.chr3:46488808C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1294G>A	chr3.hg19:g.46488808C>T	ENSP00000231751:p.Glu432Lys	0					LTF_ENST00000417439.1_Missense_Mutation_p.E430K|LTF_ENST00000426532.2_Missense_Mutation_p.E388K	p.E432K	NM_002343.3	NP_002334.2	1	2	3	1.998468	P02788	TRFL_HUMAN		10	1589	-			A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	1	1	hg19	c.1294G>A	CCDS33747.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963350	0.92791	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.138561	0.64402	D	0.000004	T	0.79604	0.4474	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.86696	0.1926	10	0.87932	D	0	-21.1836	15.6781	0.77344	0.0:1.0:0.0:0.0	.	430;419;432	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	432;388;430;419	ENSP00000231751:E432K;ENSP00000405719:E388K;ENSP00000405546:E430K;ENSP00000397427:E419K	ENSP00000231751:E432K	E	-	1	0	0	LTF	46463812	46463812	1.000000	0.71417	0.955000	0.39395	0.988000	0.76386	6.634000	0.74290	2.646000	0.89796	0.563000	0.77884	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_002343			97	94		500	491	1		1	0		0	0	129	0		1	9.927546e-01	0	0	0	41	0	97	500
LRRC2	79442	broad.mit.edu	37	3	46580536	46580536	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	163										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)		TTGACATACCGATTTCTGCTG	0.453																																						ENST00000395905.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(487-489)atC>atT		leucine rich repeat containing 2							129.0	114.0	119.0					3																	46580536		2203	4300	6503	SO:0001630	splice_region_variant	79442	5	121412	36				g.chr3:46580536G>A	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.490+1C>T	chr3.hg19:g.46580536G>A		0					LRRC2_ENST00000296144.3_Splice_Site_p.I163I	p.I163I	NM_024512.4	NP_078788.2	1	2	3	1.998468	Q9BYS8	LRRC2_HUMAN		4	881	-		Ovarian(412;0.0563)	B2RDQ7|Q96LT5	Splice_Site	SNP	ENST00000395905.3	1	0	hg19	c.489C>T	CCDS2741.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000		Silent		64	63		311	308	1		1			0	0	60	0		1	0	0	0	0	0	0	64	311
ALS2CL	259173	broad.mit.edu	37	3	46717749	46717749	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000383742.3_Silent_p.L71L|ALS2CL_ENST00000415953.1_Silent_p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	724					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607																																						ENST00000318962.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2170-2172)ctC>ctA		ALS2 C-terminal like							74.0	65.0	68.0					3																	46717749		2203	4300	6503	SO:0001819	synonymous_variant	259173	0	0					g.chr3:46717749G>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2172C>A	chr3.hg19:g.46717749G>T		0					ALS2CL_ENST00000415953.1_Silent_p.L724L|ALS2CL_ENST00000383742.3_Silent_p.L71L	p.L724L	NM_147129.3	NP_667340.2	1	2	3	1.998468	Q60I27	AL2CL_HUMAN		19	2255	-			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	1	1	hg19	c.2172C>A	CCDS2743.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.283787	1	0.170000	NM_147129			71	70		330	326	1		1	1		0	0	80	0		1	9.999887e-01	0	34	0	45	0	71	330
MYL3	4634	broad.mit.edu	37	3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	24					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGGGGAGGTGCGGGAGCTGGA	0.592																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1	1.000000	0.260000	5.300000e-01	3.300000e-01	0.410000	0.453073	0.410000	0.410000																										0				3						c.(70-72)Gca>Aca		myosin, light chain 3, alkali; ventricular, skeletal, slow							86.0	91.0	89.0					3																	46904811		2203	4300	6503	SO:0001583	missense	4634	0	0					g.chr3:46904811C>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.70G>A	chr3.hg19:g.46904811C>T	ENSP00000379210:p.Ala24Thr	0					MYL3_ENST00000292327.4_Missense_Mutation_p.A24T	p.A24T			1	2	3	1.998468	P08590	MYL3_HUMAN		1	121	-			B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	1	1	hg19	c.70G>A	CCDS2746.1	0	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773711	0.16051	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84298	-1.83;-1.83	2.95	2.07	0.26955	2.95	2.07	0.26955	.	0.492773	0.19873	N	0.104154	T	0.80773	0.4687	M	0.78801	2.425	0.09310	N	1	B	0.19583	0.037	B	0.04013	0.001	T	0.65438	-0.6168	10	0.23891	T	0.37	-12.4256	5.9945	0.19487	0.0:0.8539:0.0:0.1461	.	24	P08590	MYL3_HUMAN	T	24	ENSP00000379210:A24T;ENSP00000292327:A24T	ENSP00000292327:A24T	A	-	1	0	0	MYL3	46879815	46879815	0.899000	0.30636	0.059000	0.19551	0.180000	0.23129	1.459000	0.35234	0.836000	0.34901	-0.258000	0.10820	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	0	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-3.453791	1	0.170000	NM_000258			21	21		591	576	0		1	0		0	0	113	0		9.999968e-01	1.238728e-02	0	0	0	5	0	21	591
CCDC12	151903	broad.mit.edu	37	3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000546280.1	-	3	277	c.230C>T	c.(229-231)gCc>gTc	p.A77V	CCDC12_ENST00000425441.1_Missense_Mutation_p.A90V|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	77										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)		AACCGGTTTGGCCTGGGGCAC	0.562																																						ENST00000546280.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999404	0.990000	1.000000																										0				3						c.(229-231)gCc>gTc		coiled-coil domain containing 12							153.0	104.0	121.0					3																	46966960		2203	4300	6503	SO:0001583	missense	151903	0	0					g.chr3:46966960G>A	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.230C>T	chr3.hg19:g.46966960G>A	ENSP00000441327:p.Ala77Val	0					CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Missense_Mutation_p.A90V|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	p.A77V	NM_144716.3	NP_653317.2	1	2	3	1.998468	Q8WUD4	CCD12_HUMAN		3	277	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	1	1	hg19	c.230C>T		1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077400	0.76528	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31752	0.955	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.87578	0.998;0.46	T	0.62158	-0.6913	9	0.32370	T	0.25	-2.9651	17.1908	0.86879	0.0:0.0:1.0:0.0	.	77;77	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	V	90;90;77;90	.	ENSP00000292314:A90V	A	-	2	0	0	CCDC12	46941964	46941964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.404000	0.73268	2.724000	0.93272	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_144716			18	18		97	96	1		1	1		0	0	32	0		9.999886e-01	1	0	175	0	342	0	18	97
NBEAL2	23218	broad.mit.edu	37	3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602																																						ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999920	0.990000	1.000000																										0				51						c.(232-234)Gcc>Acc		neurobeachin-like 2							48.0	53.0	51.0					3																	47030423		2158	4259	6417	SO:0001583	missense	23218	0	0					g.chr3:47030423G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.232G>A	chr3.hg19:g.47030423G>A	ENSP00000415034:p.Ala78Thr	0					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	p.A78T	NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		3	411	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	1	1	hg19	c.232G>A	CCDS46817.1	1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918185	0.33815	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.60040	0.22;0.24	4.07	2.25	0.28309	4.07	2.25	0.28309	.	.	.	.	.	T	0.50257	0.1605	M	0.63843	1.955	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.18561	0.022;0.002	T	0.45673	-0.9245	9	0.54805	T	0.06	.	6.2584	0.20887	0.3197:0.0:0.6803:0.0	.	71;78	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	T	78;78;71	ENSP00000292309:A78T;ENSP00000415034:A78T	ENSP00000292309:A78T	A	+	1	0	0	NBEAL2	47005427	47005427	0.380000	0.25131	0.704000	0.30370	0.708000	0.40852	1.522000	0.35921	0.370000	0.24538	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	XM_291064			32	31		188	183	1		1	1		0	0	29	0		1	9.986797e-01	0	14	0	49	0	32	188
NBEAL2	23218	broad.mit.edu	37	3	47040450	47040450	+	Splice_Site	SNP	C	C	T	rs568496511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1129					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	0.0	0.0	5008	,	,		16414	0.001		0.0	False		,,,				2504	0.0					ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999856	0.990000	1.000000																										0				51						c.(3385-3387)gCg>gTg		neurobeachin-like 2							35.0	42.0	39.0					3																	47040450		2158	4244	6402	SO:0001630	splice_region_variant	23218	0	0					g.chr3:47040450C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3385-1C>T	chr3.hg19:g.47040450C>T		0		OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.A1129V	NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		24	3565	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	1	0	hg19	c.3386C>T	CCDS46817.1	1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.267371	0.01433	.	.	ENSG00000160796	ENST00000450053	T	0.20332	2.08	5.29	2.92	0.33932	5.29	2.92	0.33932	.	.	.	.	.	T	0.04272	0.0118	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	9	0.05959	T	0.93	.	7.3518	0.26695	0.0:0.2562:0.0:0.7438	.	1129	Q6ZNJ1	NBEL2_HUMAN	V	1129	ENSP00000415034:A1129V	ENSP00000415034:A1129V	A	+	2	0	0	NBEAL2	47015454	47015454	0.954000	0.32549	0.874000	0.34290	0.113000	0.19764	1.301000	0.33447	0.425000	0.26087	-0.361000	0.07541	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	XM_291064	Missense_Mutation		14	14		48	46	1		1	1		0	0	19	0		9.998374e-01	9.999795e-01	0	11	0	67	0	14	48
NBEAL2	23218	broad.mit.edu	37	3	47041693	47041693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1368					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637																																						ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(4102-4104)ggC>ggT		neurobeachin-like 2							98.0	104.0	102.0					3																	47041693		2104	4219	6323	SO:0001819	synonymous_variant	23218	0	0					g.chr3:47041693C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4104C>T	chr3.hg19:g.47041693C>T		0					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	p.G1368G	NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		27	4283	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	1	1	hg19	c.4104C>T	CCDS46817.1	1	.	.	.	.	.	.	.	.	.	.	C	2.402	-0.337409	0.05278	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.16	0.20824	5.48	1.16	0.20824	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3069	0.07003	0.1209:0.4588:0.262:0.1583	.	.	.	.	V	656	.	.	A	+	2	0	0	NBEAL2	47016697	47016697	0.000000	0.05858	0.058000	0.19502	0.490000	0.33462	-0.017000	0.12590	0.251000	0.21505	0.561000	0.74099	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	XM_291064			102	102		484	476	1		1	1		0	0	100	0		1	9.999995e-01	0	42	0	57	0	102	484
NBEAL2	23218	broad.mit.edu	37	3	47042768	47042768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2						blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627																																						ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.e29-1		neurobeachin-like 2							63.0	77.0	72.0					3																	47042768		2098	4226	6324	SO:0001630	splice_region_variant	23218	1	121102	29				g.chr3:47042768G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4485-1G>T	chr3.hg19:g.47042768G>T		0					NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_Splice_Site		NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		29	4663	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	1	1	hg19		CCDS46817.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160308	0.78226	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000416683	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NBEAL2	47017772	47017772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.542000	0.98086	2.667000	0.90743	0.563000	0.77884	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	XM_291064	Intron		94	94		403	397	1		1	1		0	0	96	0		1	7.728331e-01	0	14	0	0	0	94	403
NBEAL2	23218	broad.mit.edu	37	3	47047546	47047546	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2304	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612																																						ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(6910-6912)acC>acA		neurobeachin-like 2							56.0	67.0	63.0					3																	47047546		2112	4230	6342	SO:0001819	synonymous_variant	23218	0	0					g.chr3:47047546C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6912C>A	chr3.hg19:g.47047546C>A		0					NBEAL2_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	p.T2304T	NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		43	7091	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	1	1	hg19	c.6912C>A	CCDS46817.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.78|4.78	1.31|1.31	0.21738|0.21738	4.78|4.78	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	.|.	3.3935|3.3935	0.07298|0.07298	0.3228:0.4439:0.0:0.2333|0.3228:0.4439:0.0:0.2333	.|.	.|.	.|.	.|.	I|H	673|1592	.|.	.|.	L|P	+|+	1|2	2|0	2|0	NBEAL2|NBEAL2	47022550|47022550	47022550|47022550	0.003000|0.003000	0.15002|0.15002	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	-1.339000|-1.339000	0.02652|0.02652	0.049000|0.049000	0.15920|0.15920	0.561000|0.561000	0.74099|0.74099	CTA|CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.881695	1	0.170000	XM_291064			80	79		337	329	1		1	1		0	0	74	0		1	1	0	68	0	75	0	80	337
NBEAL2	23218	broad.mit.edu	37	3	47049628	47049628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587																																						ENST00000450053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999893	0.990000	1.000000																										0				51						c.(7669-7671)agC>agT		neurobeachin-like 2							93.0	93.0	93.0					3																	47049628		2174	4279	6453	SO:0001819	synonymous_variant	23218	0	0					g.chr3:47049628C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7671C>T	chr3.hg19:g.47049628C>T		0					NBEAL2_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	p.S2557S	NM_015175.2	NP_055990.1	1	2	3	1.998468	Q6ZNJ1	NBEL2_HUMAN		50	7850	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	1	1	hg19	c.7671C>T	CCDS46817.1	1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928973	0.18131	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.16	0.958	0.19619	5.16	0.958	0.19619	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	3.9483	0.09358	0.0:0.4167:0.1761:0.4072	.	.	.	.	V	1845	.	.	A	+	2	0	0	NBEAL2	47024632	47024632	0.003000	0.15002	1.000000	0.80357	0.990000	0.78478	-1.291000	0.02775	0.656000	0.30886	0.561000	0.74099	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.334433	1	0.170000	XM_291064			29	29		167	163	1		1	1		0	0	46	0		1	1	0	40	0	152	0	29	167
SETD2	29072	broad.mit.edu	37	3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T	rs374976472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	670					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)			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)		ATATTTAATTCTATGGGACAA	0.323			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3	1.000000	0.300000	7.000000e-01	4.000000e-01	0.530000	0.562473	0.530000	0.500000				Rec	yes			Rec	yes		3	3p21.31	3p21.31	29072	N, F, S, Mis	SET domain containing 2				E	E			clear cell renal carcinoma		0				141						c.(2008-2010)Gaa>Aaa		SET domain containing 2		C	LYS/GLU	0,4406		0,0,2203	58.0	62.0	60.0		2008	5.4	1.0	3		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	SETD2	NM_014159.6	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	670/2565	47164118	1,13003	2203	4299	6502	SO:0001583	missense	29072	9	121408	39				g.chr3:47164118C>T	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.2008G>A	chr3.hg19:g.47164118C>T	ENSP00000386759:p.Glu670Lys	0						p.E670K	NM_014159.6	NP_054878.5	1	2	3	1.998468	Q9BYW2	SETD2_HUMAN		3	2050	-		Acute lymphoblastic leukemia(5;0.0169)	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	1	1	hg19	c.2008G>A	CCDS2749.2	0	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	0.0	1.16E-4	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.29	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000025	T	0.80706	0.4674	N	0.24115	0.695	0.37608	D	0.92084	P;P	0.43750	0.816;0.603	B;B	0.36766	0.232;0.232	D	0.85269	0.1055	10	0.87932	D	0	.	12.7337	0.57212	0.0:0.9255:0.0:0.0744	.	670;670	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	670;670;670;626	ENSP00000386759:E670K;ENSP00000416401:E626K	ENSP00000386759:E670K	E	-	1	0	0	SETD2	47139122	47139122	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.635000	0.54309	2.828000	0.97474	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-4.529612	1	0.170000	NM_014159			15	15		331	326	0		1	1		0	0	70	0		9.998658e-01	3.352448e-01	0	2	0	24	0	15	331
SETD2	29072	broad.mit.edu	37	3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	586					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)			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)		AACTAAAAGAATGAGACTGTT	0.323			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		3	3p21.31	3p21.31	29072	N, F, S, Mis	SET domain containing 2				E	E			clear cell renal carcinoma		0				141						c.(1756-1758)caT>caG		SET domain containing 2							46.0	52.0	50.0					3																	47164368		2195	4293	6488	SO:0001583	missense	29072	0	0					g.chr3:47164368A>C	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.1758T>G	chr3.hg19:g.47164368A>C	ENSP00000386759:p.His586Gln	0						p.H586Q	NM_014159.6	NP_054878.5	1	2	3	1.998468	Q9BYW2	SETD2_HUMAN		3	1800	-		Acute lymphoblastic leukemia(5;0.0169)	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	1	1	hg19	c.1758T>G	CCDS2749.2	1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925895	0.34002	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.5	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.105088	0.42548	D	0.000693	T	0.81422	0.4819	N	0.19112	0.55	0.36693	D	0.879687	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	D	0.86994	0.2112	10	0.87932	D	0	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	586;586	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	586;586;586;542	ENSP00000386759:H586Q;ENSP00000416401:H542Q	ENSP00000386759:H586Q	H	-	3	2	2	SETD2	47139372	47139372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.058000	0.49939	2.277000	0.76020	0.528000	0.53228	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_014159			64	63		275	274	1		1	1		0	0	64	0		1	7.331658e-01	0	4	0	9	0	64	275
KIF9	64147	broad.mit.edu	37	3	47284645	47284645	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47284645G>T	ENST00000265529.3	-	17	2285	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Silent_p.S535S			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	535					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)			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)		CATCTTTGGAGGATGGGACCA	0.552																																					Colon(44;962 1147 15977 24541)	ENST00000265529.3	1.000000	0.140000	5.100000e-01	2.300000e-01	0.340000	0.388307	0.340000	0.310000																										0				34						c.(1603-1605)tcC>tcA		kinesin family member 9							99.0	84.0	89.0					3																	47284645		2203	4300	6503	SO:0001819	synonymous_variant	64147	0	0					g.chr3:47284645G>T	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.1605C>A	chr3.hg19:g.47284645G>T		0					KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000335044.2_Silent_p.S535S|KIF9_ENST00000444589.2_Intron	p.S535S			1	2	3	1.998468	Q9HAQ2	KIF9_HUMAN		17	2285	-		Acute lymphoblastic leukemia(5;0.164)	Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	0	1	hg19	c.1605C>A	CCDS2752.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.473841	1	0.170000				7	7		255	250	0		1	0		0	0	58	0		9.796408e-01	1.395982e-02	0	0	0	6	0	7	255
KIF9	64147	broad.mit.edu	37	3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000265529.3	-	11	1693	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000444589.2_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)		GGTGACTAGCTTCATCCTGCT	0.507																																					Colon(44;962 1147 15977 24541)	ENST00000265529.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1012-1014)aAg>aCg		kinesin family member 9							175.0	144.0	155.0					3																	47299019		2203	4300	6503	SO:0001583	missense	64147	0	0					g.chr3:47299019T>G	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.1013A>C	chr3.hg19:g.47299019T>G	ENSP00000265529:p.Lys338Thr	0					KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T	p.K338T			1	2	3	1.998468	Q9HAQ2	KIF9_HUMAN		11	1693	-		Acute lymphoblastic leukemia(5;0.164)	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	1	1	hg19	c.1013A>C	CCDS2752.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248045	0.80024	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.47	5.47	0.80525	5.47	5.47	0.80525	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.69248	2.105	0.52501	D	0.999959	P;D	0.55385	0.856;0.971	P;P	0.50270	0.631;0.636	T	0.82218	-0.0566	10	0.46703	T	0.11	.	14.5097	0.67776	0.0:0.0:0.0:1.0	.	338;338	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	338;338;338;338;245	ENSP00000333942:K338T;ENSP00000265529:K338T;ENSP00000414987:K338T;ENSP00000391100:K338T;ENSP00000292334:K245T	ENSP00000265529:K338T	K	-	2	0	0	KIF9	47274023	47274023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.476000	0.60216	2.296000	0.77279	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000				70	69		361	350	1		1	0		0	0	100	0		1	0	0	0	0	1	0	70	361
KLHL18	23276	broad.mit.edu	37	3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	153	BACK.									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)		ATGATGTGTGCTGTGCTGTAC	0.493																																						ENST00000232766.5	1.000000	0.510000	8.800000e-01	6.100000e-01	0.730000	0.747016	0.730000	0.720000																										0				21						c.(457-459)gCt>gTt		kelch-like family member 18							124.0	120.0	121.0					3																	47371497		2203	4300	6503	SO:0001583	missense	23276	0	0					g.chr3:47371497C>T	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.458C>T	chr3.hg19:g.47371497C>T	ENSP00000232766:p.Ala153Val	0					KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	p.A153V	NM_025010.4	NP_079286.2	1	2	3	1.998468	O94889	KLH18_HUMAN		4	478	+		Acute lymphoblastic leukemia(5;0.164)	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	1	1	hg19	c.458C>T	CCDS33749.1	0	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333086	0.60853	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.69040	-0.37;-0.37	4.94	4.94	0.65067	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.059222	0.64402	D	0.000002	T	0.46054	0.1373	N	0.16066	0.365	0.58432	D	0.999997	P;B;B	0.40534	0.72;0.012;0.137	B;B;B	0.35182	0.197;0.02;0.058	T	0.47598	-0.9105	10	0.09590	T	0.72	.	16.8983	0.86106	0.0:1.0:0.0:0.0	.	4;153;88	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	V	153;41	ENSP00000232766:A153V;ENSP00000405585:A41V	ENSP00000232766:A153V	A	+	2	0	0	KLHL18	47346501	47346501	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	7.416000	0.80143	2.579000	0.87056	0.467000	0.42956	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	1	0	1		2	2	2	0		0	0	106		106	102	1	2.060000	-6.870001	1	0.170000	NM_025010			33	32		509	502	0		1	1		0	0	106	0		1	7.582930e-01	0	3	0	41	0	33	509
PTPN23	25930	broad.mit.edu	37	3	47449834	47449834	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23						cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582																																						ENST00000265562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.e15-1		protein tyrosine phosphatase, non-receptor type 23							79.0	74.0	76.0					3																	47449834		2203	4300	6503	SO:0001630	splice_region_variant	25930	0	0					g.chr3:47449834G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1185-1G>T	chr3.hg19:g.47449834G>T		0					PTPN23_ENST00000431726.1_Splice_Site		NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		15	1261	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Splice_Site	SNP	ENST00000265562.4	1	1	hg19		CCDS2754.1	1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477482	0.63849	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	4.2	4.2	0.49525	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PTPN23	47424838	47424838	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	9.305000	0.96197	2.195000	0.70347	0.557000	0.71058	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	1		14	2	2	0		0	1	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_015466	Intron		57	55		311	307	1		1	0		0	0	97	0		1	2.492897e-02	0	1	0	1	0	57	311
PTPN23	25930	broad.mit.edu	37	3	47450720	47450720	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	570					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACCAGCGCGTGTCCCTGG	0.587																																						ENST00000265562.4	1.000000	0.220000	5.600000e-01	3.000000e-01	0.410000	0.450737	0.410000	0.390000																										0				23						c.(1708-1710)cgC>cgT		protein tyrosine phosphatase, non-receptor type 23							61.0	60.0	61.0					3																	47450720		2203	4300	6503	SO:0001819	synonymous_variant	25930	1	121410	34				g.chr3:47450720C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1710C>T	chr3.hg19:g.47450720C>T		0					PTPN23_ENST00000431726.1_Silent_p.R444R	p.R570R	NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		17	1787	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	1	1	hg19	c.1710C>T	CCDS2754.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-12.112520	1	0.170000	NM_015466			12	11		349	347	0		1	0		0	0	64	0		9.991080e-01	6.162824e-01	0	1	0	59	0	12	349
PTPN23	25930	broad.mit.edu	37	3	47451949	47451949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	887	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697																																						ENST00000265562.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998995	0.990000	1.000000																										0				23						c.(2659-2661)atC>atA		protein tyrosine phosphatase, non-receptor type 23							22.0	25.0	24.0					3																	47451949		2202	4297	6499	SO:0001819	synonymous_variant	25930	0	0					g.chr3:47451949C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2661C>A	chr3.hg19:g.47451949C>A		0					PTPN23_ENST00000431726.1_Silent_p.I761I	p.I887I	NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		20	2738	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	0	1	hg19	c.2661C>A	CCDS2754.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	1		2	2	2	0		0	0	18		18	16	1	2.060000	-20.000000	1	0.170000	NM_015466			20	20		121	118	0		1	1		0	0	18	0		9.999964e-01	9.987547e-01	0	23	0	46	0	20	121
PTPN23	25930	broad.mit.edu	37	3	47452754	47452754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47452754G>T	ENST00000265562.4	+	20	3543	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1156					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCGGCCGCAGGCCCTGCGGCT	0.687																																						ENST00000265562.4	1.000000	0.220000	7.300000e-01	3.300000e-01	0.500000	0.538428	0.500000	0.460000																										0				23						c.(3466-3468)Gcc>Tcc		protein tyrosine phosphatase, non-receptor type 23							17.0	20.0	19.0					3																	47452754		2200	4295	6495	SO:0001583	missense	25930	0	0					g.chr3:47452754G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3466G>T	chr3.hg19:g.47452754G>T	ENSP00000265562:p.Ala1156Ser	0					PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	p.A1156S	NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		20	3543	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	0	1	hg19	c.3466G>T	CCDS2754.1	0	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958074	0.53400	.	.	ENSG00000076201	ENST00000265562	T	0.02682	4.2	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.067857	0.64402	D	0.000018	T	0.03739	0.0106	N	0.24115	0.695	0.45607	D	0.998543	P;P	0.46987	0.888;0.888	P;P	0.44561	0.453;0.453	T	0.60566	-0.7238	10	0.40728	T	0.16	-18.1626	16.7279	0.85428	0.0:0.0:1.0:0.0	.	1030;1156	B4DST5;Q9H3S7	.;PTN23_HUMAN	S	1156	ENSP00000265562:A1156S	ENSP00000265562:A1156S	A	+	1	0	0	PTPN23	47427758	47427758	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.895000	0.75660	2.468000	0.83385	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-9.673564	1	0.170000	NM_015466			7	6		171	168	0		1	1		0	0	36	0		9.796578e-01	6.672709e-01	0	2	0	53	0	7	171
PTPN23	25930	broad.mit.edu	37	3	47454450	47454450	+	Silent	SNP	G	G	A	rs371856828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1562	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687																																						ENST00000265562.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999020	0.990000	1.000000																										0				23						c.(4684-4686)ccG>ccA		protein tyrosine phosphatase, non-receptor type 23		G		0,4388		0,0,2194	10.0	13.0	12.0		4686	-3.4	0.0	3		12	1,8573		0,1,4286	no	coding-synonymous	PTPN23	NM_015466.2		0,1,6480	AA,AG,GG		0.0117,0.0,0.0077		1562/1637	47454450	1,12961	2194	4287	6481	SO:0001819	synonymous_variant	25930	3	121158	29				g.chr3:47454450G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4686G>A	chr3.hg19:g.47454450G>A		0					PTPN23_ENST00000431726.1_Silent_p.P1436P	p.P1562P	NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		25	4763	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	0	1	hg19	c.4686G>A	CCDS2754.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_015466			19	19		112	111	0		1	1		0	0	20	0		9.999940e-01	9.999995e-01	0	7	0	159	0	19	112
PTPN23	25930	broad.mit.edu	37	3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1585					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662																																						ENST00000265562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(4753-4755)Cca>Aca		protein tyrosine phosphatase, non-receptor type 23							19.0	22.0	21.0					3																	47454517		2203	4300	6503	SO:0001583	missense	25930	0	0					g.chr3:47454517C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4753C>A	chr3.hg19:g.47454517C>A	ENSP00000265562:p.Pro1585Thr	0					PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	p.P1585T	NM_015466.2	NP_056281.1	1	2	3	1.998468	Q9H3S7	PTN23_HUMAN		25	4830	+			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	1	1	hg19	c.4753C>A	CCDS2754.1	1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802228	0.50315	.	.	ENSG00000076201	ENST00000265562	T	0.08008	3.14	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.080102	0.49916	D	0.000132	T	0.12944	0.0314	L	0.29908	0.895	0.44627	D	0.997603	D	0.60160	0.987	P	0.54544	0.755	T	0.01464	-1.1348	10	0.72032	D	0.01	-10.3634	12.3772	0.55287	0.0:0.8296:0.1704:0.0	.	1585	Q9H3S7	PTN23_HUMAN	T	1585	ENSP00000265562:P1585T	ENSP00000265562:P1585T	P	+	1	0	0	PTPN23	47429521	47429521	0.998000	0.40836	0.695000	0.30226	0.993000	0.82548	4.195000	0.58400	2.146000	0.66826	0.563000	0.77884	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015466			36	34		150	144	1		1	1		0	0	40	0		1	1	0	57	0	87	0	36	150
SCAP	22937	broad.mit.edu	37	3	47459949	47459949	+	Silent	SNP	G	G	A	rs368756779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000545718.1_Silent_p.R339R|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.R476R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	731	Interaction with SREBF2. {ECO:0000250}.				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)			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)		GGCATAGCACGCGGTAGAGGC	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		10056	0.0		0.0	False		,,,				2504	0.001				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999550	0.990000	1.000000																										0				26						c.(2191-2193)cgC>cgT		SREBF chaperone		G		2,4336		0,2,2167	10.0	14.0	12.0		2193	-6.2	0.6	3		12	0,8514		0,0,4257	no	coding-synonymous	SCAP	NM_012235.2		0,2,6424	AA,AG,GG		0.0,0.0461,0.0156		731/1280	47459949	2,12850	2169	4257	6426	SO:0001819	synonymous_variant	22937	7	119184	31				g.chr3:47459949G>A	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.2193C>T	chr3.hg19:g.47459949G>A		0					SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	p.R731R	NM_012235.2	NP_036367.2	1	2	3	1.998468	Q12770	SCAP_HUMAN		15	2605	-			Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	1	1	hg19	c.2193C>T	CCDS2755.2	1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299887	0.05532	4.61E-4	0.0	ENSG00000114650	ENST00000383739	.	.	.	4.22	-6.18	0.02085	4.22	-6.18	0.02085	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54715	-0.8252	6	0.87932	D	0	-20.461	3.3723	0.07225	0.4167:0.336:0.1566:0.0906	.	.	.	.	C	256	.	ENSP00000373245:R256C	R	-	1	0	0	SCAP	47434953	47434953	0.000000	0.05858	0.607000	0.28956	0.034000	0.12701	-2.562000	0.00920	-1.126000	0.02929	-0.440000	0.05779	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999980	1	0.170000	NM_012235			13	13		52	52	0		1	1		0	0	12	0		9.997224e-01	9.378695e-01	0	7	0	15	0	13	52
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A	rs370739539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.D419D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					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)			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)		CACTGCGGCCGTCCTGAGGGT	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.001		0.0	False		,,,				2504	0.0				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5	1.000000	0.780000	1	9.900000e-01	0.990000	0.985017	0.990000	1.000000																										0				26						c.(2020-2022)gaC>gaT		SREBF chaperone		G		1,4395		0,1,2197	16.0	18.0	17.0		2022	-2.7	0.4	3		17	0,8598		0,0,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		674/1280	47460252	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	22937	5	120778	33				g.chr3:47460252G>A	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.2022C>T	chr3.hg19:g.47460252G>A		0					SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	p.D674D	NM_012235.2	NP_036367.2	1	2	3	1.998468	Q12770	SCAP_HUMAN		14	2434	-			Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	0	1	hg19	c.2022C>T	CCDS2755.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-19.595900	1	0.170000	NM_012235			12	12		89	85	0		1	1		0	0	20	0		9.991189e-01	9.932899e-01	0	11	0	56	0	12	89
SCAP	22937	broad.mit.edu	37	3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000545718.1_Missense_Mutation_p.P242L|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	634					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)			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)		GAAGAGCGTCGGCCAGTGGCG	0.582																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5	1.000000	0.230000	5.900000e-01	3.200000e-01	0.430000	0.473440	0.430000	0.410000																										0				26						c.(1900-1902)cCg>cTg		SREBF chaperone							57.0	55.0	55.0					3																	47460857		2203	4300	6503	SO:0001583	missense	22937	0	0					g.chr3:47460857G>A	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.1901C>T	chr3.hg19:g.47460857G>A	ENSP00000265565:p.Pro634Leu	0					SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	p.P634L	NM_012235.2	NP_036367.2	1	2	3	1.998468	Q12770	SCAP_HUMAN		13	2313	-			Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	1	1	hg19	c.1901C>T	CCDS2755.2	0	.	.	.	.	.	.	.	.	.	.	G	33	5.284507	0.95517	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.84800	-1.9;-1.86;0.25	4.48	4.48	0.54585	4.48	4.48	0.54585	.	0.057304	0.64402	D	0.000001	D	0.91372	0.7278	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.92528	0.6031	10	0.87932	D	0	-23.6223	16.9316	0.86191	0.0:0.0:1.0:0.0	.	379;634	F8W921;Q12770	.;SCAP_HUMAN	L	261;634;379;242	ENSP00000265565:P634L;ENSP00000416847:P379L;ENSP00000438956:P242L	ENSP00000265565:P634L	P	-	2	0	0	SCAP	47435861	47435861	1.000000	0.71417	0.934000	0.37439	0.986000	0.74619	9.336000	0.96533	2.316000	0.78162	0.462000	0.41574	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.955097	1	0.170000	NM_012235			12	13		329	319	0		1	1		0	0	68	0		9.990073e-01	8.637672e-01	0	2	0	98	0	12	329
SCAP	22937	broad.mit.edu	37	3	47467101	47467101	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Splice_Site_p.R49Q	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	304	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)			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)		GTCGATCTTCCCTGGAGGGCA	0.652																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(910-912)cGg>cAg		SREBF chaperone							72.0	68.0	69.0					3																	47467101		2203	4300	6503	SO:0001630	splice_region_variant	22937	0	0					g.chr3:47467101C>T	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.911-1G>A	chr3.hg19:g.47467101C>T		0					SCAP_ENST00000441517.2_Splice_Site_p.R49Q|SCAP_ENST00000545718.1_Intron	p.R304Q	NM_012235.2	NP_036367.2	1	2	3	1.998468	Q12770	SCAP_HUMAN		8	1323	-			Q8N2E0|Q8WUA1	Splice_Site	SNP	ENST00000265565.5	1	0	hg19	c.911G>A	CCDS2755.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.098913	0.97281	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.93247	-3.19;-3.19	5.42	5.42	0.78866	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	L	0.52364	1.645	0.80722	D	1	P;D	0.54601	0.95;0.967	P;P	0.59288	0.613;0.855	D	0.94139	0.7395	10	0.45353	T	0.12	.	18.9933	0.92803	0.0:1.0:0.0:0.0	.	49;304	F8W921;Q12770	.;SCAP_HUMAN	Q	304;304;49	ENSP00000265565:R304Q;ENSP00000416847:R49Q	ENSP00000265565:R304Q	R	-	2	0	0	SCAP	47442105	47442105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.413000	0.80104	2.820000	0.97059	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.275610	1	0.170000	NM_012235	Missense_Mutation		71	68		291	285	1		1	1		0	0	65	0		1	1	0	12	0	108	0	71	291
CSPG5	10675	broad.mit.edu	37	3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	216					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587																																						ENST00000383738.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(646-648)cTg>cCg		chondroitin sulfate proteoglycan 5 (neuroglycan C)							49.0	50.0	50.0					3																	47618869		2203	4300	6503	SO:0001583	missense	10675	0	0					g.chr3:47618869A>G	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.647T>C	chr3.hg19:g.47618869A>G	ENSP00000373244:p.Leu216Pro	0					CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P	p.L216P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	1	2	3	1.998468	O95196	CSPG5_HUMAN		2	2745	-			Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	1	1	hg19	c.647T>C	CCDS56253.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935608	0.73442	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.56444	0.46;0.46;0.46	4.41	4.41	0.53225	4.41	4.41	0.53225	Chondroitin sulphate attachment (1);	0.238565	0.28544	N	0.014970	T	0.58680	0.2139	L	0.27053	0.805	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59994	-0.7349	10	0.46703	T	0.11	-9.1734	12.8895	0.58064	1.0:0.0:0.0:0.0	.	216;216	O95196;O95196-2	CSPG5_HUMAN;.	P	78;216;216	ENSP00000392096:L78P;ENSP00000373244:L216P;ENSP00000264723:L216P	ENSP00000264723:L216P	L	-	2	0	0	CSPG5	47593873	47593873	0.947000	0.32204	0.998000	0.56505	0.990000	0.78478	3.974000	0.56852	1.969000	0.57287	0.523000	0.50628	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_006574			42	41		207	203	1		1	0		0	0	46	0		1	2.751311e-01	0	1	0	5	0	42	207
CSPG5	10675	broad.mit.edu	37	3	47619042	47619042	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Silent_p.G158G|CSPG5_ENST00000456150.1_Silent_p.G20G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	158					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667																																						ENST00000383738.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(472-474)ggC>ggT		chondroitin sulfate proteoglycan 5 (neuroglycan C)							26.0	33.0	31.0					3																	47619042		2195	4292	6487	SO:0001819	synonymous_variant	10675	0	0					g.chr3:47619042G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.474C>T	chr3.hg19:g.47619042G>A		0					CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.G20G|CSPG5_ENST00000264723.4_Silent_p.G158G	p.G158G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	1	2	3	1.998468	O95196	CSPG5_HUMAN		2	2572	-			Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	1	1	hg19	c.474C>T	CCDS56253.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	1	0	0		2	2	2	0		0	0	66		66	62	1	2.060000	-20.000000	1	0.170000	NM_006574			91	89		358	347	1		1	1		0	0	66	0		1	1.876223e-01	0	2	0	2	0	91	358
SMARCC1	6599	broad.mit.edu	37	3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	953					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTCGTGCTCGTAATTCAGC	0.537																																						ENST00000254480.5	1.000000	0.350000	5.800000e-01	4.100000e-01	0.480000	0.517468	0.480000	0.480000																										0				33						c.(2857-2859)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							300.0	265.0	276.0					3																	47651741		2203	4300	6503	SO:0001583	missense	6599	4	121412	42				g.chr3:47651741C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2858G>A	chr3.hg19:g.47651741C>T	ENSP00000254480:p.Arg953Gln	0					SMARCC1_ENST00000425518.1_5'UTR	p.R953Q	NM_003074.3	NP_003065.3	1	2	3	1.998468	Q92922	SMRC1_HUMAN		26	2977	-			Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	1	1	hg19	c.2858G>A	CCDS2758.1	0	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934430	0.52866	.	.	ENSG00000173473	ENST00000254480	T	0.16597	2.33	6.06	5.19	0.71726	6.06	5.19	0.71726	.	0.062950	0.64402	D	0.000016	T	0.32882	0.0844	M	0.75447	2.3	0.46078	D	0.99885	D	0.58268	0.982	P	0.51415	0.669	T	0.17992	-1.0351	10	0.87932	D	0	-11.0315	14.4989	0.67707	0.0:0.9302:0.0:0.0698	.	953	Q92922	SMRC1_HUMAN	Q	953	ENSP00000254480:R953Q	ENSP00000254480:R953Q	R	-	2	0	0	SMARCC1	47626745	47626745	1.000000	0.71417	0.868000	0.34077	0.009000	0.06853	4.547000	0.60712	1.571000	0.49722	-0.140000	0.14226	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1	0	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-3.048194	1	0.170000				47	47		1108	1081	0		1	1		0	0	216	0		1	9.920490e-01	0	7	0	167	0	47	1108
SMARCC1	6599	broad.mit.edu	37	3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	377					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398																																						ENST00000254480.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1129-1131)gTa>gCa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							176.0	164.0	168.0					3																	47742803		2203	4300	6503	SO:0001583	missense	6599	0	0					g.chr3:47742803A>G	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1130T>C	chr3.hg19:g.47742803A>G	ENSP00000254480:p.Val377Ala	0					SMARCC1_ENST00000425518.1_5'UTR	p.V377A	NM_003074.3	NP_003065.3	1	2	3	1.998468	Q92922	SMRC1_HUMAN		11	1249	-			Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	1	1	hg19	c.1130T>C	CCDS2758.1	1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212239	0.39102	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.050986	0.85682	D	0.000000	T	0.44138	0.1279	M	0.64404	1.975	0.38441	D	0.946719	P	0.36753	0.568	B	0.38106	0.265	T	0.46624	-0.9178	10	0.35671	T	0.21	-20.6406	14.9784	0.71293	1.0:0.0:0.0:0.0	.	377	Q92922	SMRC1_HUMAN	A	377	ENSP00000254480:V377A	ENSP00000254480:V377A	V	-	2	0	0	SMARCC1	47717807	47717807	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.188000	0.65093	2.263000	0.75096	0.524000	0.50904	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				61	59		286	280	1		1	1		0	0	62	0		1	1	0	47	0	104	0	61	286
DHX30	22907	broad.mit.edu	37	3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000445061.1	+	5	563	c.156G>T	c.(154-156)caG>caT	p.Q52H	DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H|DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	52						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)			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)		AGTTCCCACAGCCCAAAAATC	0.398																																						ENST00000445061.1	1.000000	0.690000	1	8.400000e-01	0.990000	0.939880	0.990000	1.000000																										0				37						c.(154-156)caG>caT		DEAH (Asp-Glu-Ala-His) box helicase 30							80.0	79.0	79.0					3																	47868868		2203	4300	6503	SO:0001583	missense	22907	0	0					g.chr3:47868868G>T	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.156G>T	chr3.hg19:g.47868868G>T	ENSP00000405620:p.Gln52His	0					DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H	p.Q52H	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		5	563	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	1	1	hg19	c.156G>T	CCDS2759.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144990	0.37825	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	5.42	3.64	0.41730	5.42	3.64	0.41730	.	0.210963	0.40818	N	0.001014	T	0.04003	0.0112	L	0.36672	1.1	0.40277	D	0.978354	B;P;P	0.40032	0.42;0.555;0.699	B;B;B	0.39935	0.119;0.237;0.314	T	0.54642	-0.8263	10	0.37606	T	0.19	.	9.2676	0.37650	0.1633:0.0:0.8367:0.0	.	52;13;80	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	13;52;24;80	ENSP00000392601:Q13H;ENSP00000405620:Q52H;ENSP00000343442:Q24H;ENSP00000394682:Q80H	ENSP00000343442:Q24H	Q	+	3	2	2	DHX30	47843872	47843872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	0.677000	0.31305	-0.136000	0.14681	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-10.020530	1	0.170000	NM_138615			31	30		338	332	1		1	1		0	0	87	0		1	9.990997e-01	0	21	0	97	0	31	338
DHX30	22907	broad.mit.edu	37	3	47882405	47882405	+	Silent	SNP	C	C	T	rs374999228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000445061.1	+	7	812	c.405C>T	c.(403-405)gaC>gaT	p.D135D	DHX30_ENST00000457607.1_Silent_p.D163D|DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000348968.4_Silent_p.D107D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	135						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)			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)		AGTTGTTTGACGCAGCCAAAT	0.582																																						ENST00000445061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(403-405)gaC>gaT		DEAH (Asp-Glu-Ala-His) box helicase 30		C	,	0,4406		0,0,2203	61.0	56.0	58.0		288,405	1.0	1.0	3		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DHX30	NM_014966.3,NM_138615.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1156,135/1195	47882405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22907	3	121412	37				g.chr3:47882405C>T	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.405C>T	chr3.hg19:g.47882405C>T		0					DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000348968.4_Silent_p.D107D|DHX30_ENST00000457607.1_Silent_p.D163D	p.D135D	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		7	812	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	1	1	hg19	c.405C>T	CCDS2759.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_138615			63	62		284	279	1		1	1		0	0	63	0		1	1	0	33	0	116	0	63	284
DHX30	22907	broad.mit.edu	37	3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000445061.1	+	9	1245	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	DHX30_ENST00000457607.1_Missense_Mutation_p.L308F|DHX30_ENST00000446256.2_Missense_Mutation_p.L241F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	280						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)			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)		GCTGTCTACACTCACCCTGCT	0.532																																						ENST00000445061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(838-840)Ctc>Ttc		DEAH (Asp-Glu-Ala-His) box helicase 30							156.0	141.0	146.0					3																	47884644		2203	4300	6503	SO:0001583	missense	22907	0	0					g.chr3:47884644C>T	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.838C>T	chr3.hg19:g.47884644C>T	ENSP00000405620:p.Leu280Phe	0					DHX30_ENST00000446256.2_Missense_Mutation_p.L241F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F	p.L280F	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		9	1245	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	1	1	hg19	c.838C>T	CCDS2759.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705149	0.89018	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04706	3.63;3.6;3.62;3.57	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.19287	0.0463	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.00137	-1.2004	10	0.51188	T	0.08	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	280;241	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	F	241;280;252;308	ENSP00000392601:L241F;ENSP00000405620:L280F;ENSP00000343442:L252F;ENSP00000394682:L308F	ENSP00000343442:L252F	L	+	1	0	0	DHX30	47859648	47859648	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.579000	0.67457	2.451000	0.82905	0.591000	0.81541	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_138615			102	100		507	496	1		1	1		0	0	107	0		1	1	0	70	0	142	0	102	507
DHX30	22907	broad.mit.edu	37	3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000445061.1	+	10	1474	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DHX30_ENST00000457607.1_Missense_Mutation_p.R384H|DHX30_ENST00000446256.2_Missense_Mutation_p.R317H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	356						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)			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)		CCCATCCTCCGCAAGATAGAG	0.597																																						ENST00000445061.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1066-1068)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 30							97.0	82.0	87.0					3																	47887317		2203	4300	6503	SO:0001583	missense	22907	0	0					g.chr3:47887317G>A	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.1067G>A	chr3.hg19:g.47887317G>A	ENSP00000405620:p.Arg356His	0					DHX30_ENST00000446256.2_Missense_Mutation_p.R317H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H	p.R356H	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		10	1474	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	1	1	hg19	c.1067G>A	CCDS2759.1	1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602048	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03272	4.0;4.0;4.0;3.99	5.38	4.5	0.54988	5.38	4.5	0.54988	.	0.295143	0.36815	N	0.002387	T	0.03136	0.0092	L	0.36672	1.1	0.39684	D	0.970949	P;P	0.47677	0.803;0.899	B;B	0.36030	0.075;0.216	T	0.50906	-0.8772	10	0.49607	T	0.09	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	356;317	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	317;356;328;384	ENSP00000392601:R317H;ENSP00000405620:R356H;ENSP00000343442:R328H;ENSP00000394682:R384H	ENSP00000343442:R328H	R	+	2	0	0	DHX30	47862321	47862321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.898000	0.48672	2.527000	0.85204	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1		2	2	2	0		0	0	77		77	72	1	2.060000	-3.356791	1	0.170000	NM_138615			61	61		256	243	1		1	1		0	0	77	0		1	1	0	40	0	136	0	61	256
DHX30	22907	broad.mit.edu	37	3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000445061.1	+	22	3831	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W|DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1142						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)			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)		GAAGGAGCTGCGGCGGGCCCT	0.697											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000445061.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999738	0.990000	1.000000																										0				37						c.(3424-3426)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box helicase 30							23.0	24.0	24.0					3																	47891449		2200	4297	6497	SO:0001583	missense	22907	0	0					g.chr3:47891449C>T	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.3424C>T	chr3.hg19:g.47891449C>T	ENSP00000405620:p.Arg1142Trp	0		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W	p.R1142W	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		22	3831	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	1	1	hg19	c.3424C>T	CCDS2759.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214897	0.79352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.10192	2.95;2.92;2.94;2.9	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.03662	-1.1015	10	0.87932	D	0	.	16.6955	0.85334	0.0:1.0:0.0:0.0	.	1142;1103	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1103;1142;1114;1170	ENSP00000392601:R1103W;ENSP00000405620:R1142W;ENSP00000343442:R1114W;ENSP00000394682:R1170W	ENSP00000343442:R1114W	R	+	1	2	2	DHX30	47866453	47866453	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.851000	0.55926	2.160000	0.67779	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_138615			32	31		205	201	1		1	1		0	0	34	0		1	9.999972e-01	0	59	0	73	0	32	205
DHX30	22907	broad.mit.edu	37	3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000445061.1	+	22	3867	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C|DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1154						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)			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)		GCGGAGCCTGCGCAGCGAGCT	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000445061.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				37						c.(3460-3462)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box helicase 30							19.0	22.0	21.0					3																	47891485		2198	4298	6496	SO:0001583	missense	22907	1	121158	25				g.chr3:47891485C>T	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.3460C>T	chr3.hg19:g.47891485C>T	ENSP00000405620:p.Arg1154Cys	0		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C	p.R1154C	NM_138615.2	NP_619520.1	1	2	3	1.998468	Q7L2E3	DHX30_HUMAN		22	3867	+			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	1	1	hg19	c.3460C>T	CCDS2759.1	1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701653	0.30142	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.304423	0.35772	N	0.003000	T	0.02342	0.0072	N	0.12182	0.205	0.45056	D	0.998076	B;B	0.17667	0.006;0.023	B;B	0.15484	0.001;0.013	T	0.51896	-0.8647	10	0.41790	T	0.15	.	6.0639	0.19852	0.1895:0.7111:0.0:0.0994	.	1154;1115	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	1115;1154;1126;1182	ENSP00000392601:R1115C;ENSP00000405620:R1154C;ENSP00000343442:R1126C;ENSP00000394682:R1182C	ENSP00000343442:R1126C	R	+	1	0	0	DHX30	47866489	47866489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.043000	0.41231	2.303000	0.77524	0.462000	0.41574	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_138615			26	26		129	128	1		1	1		0	0	22	0		1	9.999142e-01	0	41	0	37	0	26	129
MAP4	4134	broad.mit.edu	37	3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T	rs371272228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000360240.6	-	13	3097	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000426837.2_Missense_Mutation_p.R2005H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	860					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)			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)	GCTCTTTGGGCGACTCAAGTC	0.567																																						ENST00000360240.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2578-2580)cGc>cAc		microtubule-associated protein 4	Docetaxel(DB01248)|Paclitaxel(DB01229)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	77.0	76.0		2579,2579	3.9	0.7	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	860/1136,860/1153	47912583	1,13005	2203	4300	6503	SO:0001583	missense	4134	5	121412	40				g.chr3:47912583C>T		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.2579G>A	chr3.hg19:g.47912583C>T	ENSP00000353375:p.Arg860His	0					MAP4_ENST00000426837.2_Missense_Mutation_p.R2005H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H	p.R860H	NM_002375.4	NP_002366.2	1	2	3	1.998468	P27816	MAP4_HUMAN		13	3097	-			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	1	1	hg19	c.2579G>A	CCDS33750.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432443	0.83776	0.0	1.16E-4	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.36157	2.82;1.3;2.93;3.09;2.92;2.08;2.0;1.27	5.65	3.88	0.44766	5.65	3.88	0.44766	.	.	.	.	.	T	0.57695	0.2071	M	0.72894	2.215	0.25677	N	0.985832	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.066	D;D;D;D;D;B	0.97110	0.995;1.0;1.0;0.999;0.999;0.01	T	0.49707	-0.8911	9	0.66056	D	0.02	-1.0124	11.2513	0.49028	0.0:0.8533:0.0:0.1467	.	591;595;860;860;595;588	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1	.;.;.;MAP4_HUMAN;.;.	H	588;595;860;2005;860;591;226;12;595	ENSP00000373243:R588H;ENSP00000264724:R595H;ENSP00000379083:R860H;ENSP00000407602:R2005H;ENSP00000353375:R860H;ENSP00000409731:R591H;ENSP00000334770:R226H;ENSP00000415130:R12H	ENSP00000264724:R595H	R	-	2	0	0	MAP4	47887587	47887587	1.000000	0.71417	0.705000	0.30386	0.968000	0.65278	4.674000	0.61612	0.754000	0.32968	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_002375			100	98		414	405	1		1	1		0	0	93	0		1	1	0	101	0	405	0	100	414
CAMP	820	broad.mit.edu	37	3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000576243.1	+	4	583	c.443A>G	c.(442-444)aAa>aGa	p.K148R	CAMP_ENST00000296435.2_Missense_Mutation_p.K151R			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	148					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468																																						ENST00000576243.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(442-444)aAa>aGa		cathelicidin antimicrobial peptide							118.0	130.0	126.0					3																	48266844		2203	4300	6503	SO:0001583	missense	820	0	0					g.chr3:48266844A>G	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"""Endogenous ligands"""	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.443A>G	chr3.hg19:g.48266844A>G	ENSP00000458149:p.Lys148Arg	0					CAMP_ENST00000296435.2_Missense_Mutation_p.K151R	p.K148R			1	2	3	1.998468	P49913	CAMP_HUMAN		4	583	+			Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	1	1	hg19	c.443A>G		1	.	.	.	.	.	.	.	.	.	.	A	9.524	1.109045	0.20714	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.43	-7.69	0.01263	4.43	-7.69	0.01263	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.918670	0.01955	N	0.042902	T	0.15046	0.0363	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.25106	T	0.35	-0.4611	7.0673	0.25159	0.425:0.0:0.455:0.12	.	148	P49913	CAMP_HUMAN	R	148	.	ENSP00000296435:K148R	K	+	2	0	0	CAMP	48241848	48241848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-1.492000	0.01838	-0.232000	0.12228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_004345			140	135		674	669	1		1	0		0	0	146	1		1	0	0	0	0	1	0	140	674
PLXNB1	5364	broad.mit.edu	37	3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1863					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)			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)		AGGGACATAATCCTGGTTTTC	0.632																																						ENST00000358536.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				47						c.(5587-5589)gAt>gGt		plexin B1							107.0	98.0	101.0					3																	48451722		2203	4300	6503	SO:0001583	missense	5364	0	0					g.chr3:48451722T>C	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.5588A>G	chr3.hg19:g.48451722T>C	ENSP00000351338:p.Asp1863Gly	0					PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G	p.D1863G	NM_002673.4	NP_002664.2	1	2	3	1.998468	O43157	PLXB1_HUMAN		31	5857	-			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	1	1	hg19	c.5588A>G	CCDS2765.1	1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824221	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.98	3.98	0.46160	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056764	0.64402	U	0.000002	T	0.29914	0.0748	M	0.64997	1.995	0.80722	D	1	D;B	0.64830	0.994;0.222	D;B	0.69142	0.962;0.199	T	0.02214	-1.1194	10	0.27082	T	0.32	.	12.0712	0.53618	0.0:0.0:0.0:1.0	.	1863;1680	O43157;O43157-2	PLXB1_HUMAN;.	G	1863;1680;1863;474;1680	ENSP00000296440:D1863G;ENSP00000351242:D1680G;ENSP00000351338:D1863G;ENSP00000389320:D474G;ENSP00000414199:D1680G	ENSP00000296440:D1863G	D	-	2	0	0	PLXNB1	48426726	48426726	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.639000	0.83342	1.422000	0.47177	0.460000	0.39030	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-20.000000	1	0.170000	NM_002673			28	28		121	113	1		1	1		0	0	35	0		1	9.996603e-01	0	17	0	41	0	28	121
PLXNB1	5364	broad.mit.edu	37	3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1603					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)			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)		AGCTGCCCCAGCCCTTGCTCC	0.647																																						ENST00000358536.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(4807-4809)Ctg>Atg		plexin B1							38.0	42.0	41.0					3																	48454198		2202	4300	6502	SO:0001583	missense	5364	0	0					g.chr3:48454198G>T	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.4807C>A	chr3.hg19:g.48454198G>T	ENSP00000351338:p.Leu1603Met	0					PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M	p.L1603M	NM_002673.4	NP_002664.2	1	2	3	1.998468	O43157	PLXB1_HUMAN		25	5076	-			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	1	1	hg19	c.4807C>A	CCDS2765.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339755	0.60963	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.11	3.23	0.37069	4.11	3.23	0.37069	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.177773	0.38381	N	0.001713	T	0.33000	0.0848	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05178	-1.0901	10	0.36615	T	0.2	.	5.5039	0.16844	0.3324:0.0:0.6676:0.0	.	1603;1420	O43157;O43157-2	PLXB1_HUMAN;.	M	1603;1420;1603;214;1420	ENSP00000296440:L1603M;ENSP00000351242:L1420M;ENSP00000351338:L1603M;ENSP00000389320:L214M;ENSP00000414199:L1420M	ENSP00000296440:L1603M	L	-	1	2	2	PLXNB1	48429202	48429202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.458000	0.45014	1.064000	0.40671	0.551000	0.68910	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_002673			52	51		234	229	1		1	1		0	0	57	0		1	9.999902e-01	0	32	0	48	0	52	234
PLXNB1	5364	broad.mit.edu	37	3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	534					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)			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)		GCCACTTGCAGACAGCCCAGC	0.632																																						ENST00000358536.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1600-1602)Ctg>Atg		plexin B1							44.0	43.0	43.0					3																	48463136		2203	4300	6503	SO:0001583	missense	5364	0	0					g.chr3:48463136G>T	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.1600C>A	chr3.hg19:g.48463136G>T	ENSP00000351338:p.Leu534Met	0					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M	p.L534M	NM_002673.4	NP_002664.2	1	2	3	1.998468	O43157	PLXB1_HUMAN		7	1869	-			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	1	1	hg19	c.1600C>A	CCDS2765.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826166	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.93;3.9;3.93	5.62	2.84	0.33178	5.62	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.12433	0.0302	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.00909	-1.1518	10	0.46703	T	0.11	.	10.3248	0.43787	0.2161:0.0:0.7839:0.0	.	534;534	O43157;O43157-2	PLXB1_HUMAN;.	M	534	ENSP00000296440:L534M;ENSP00000351242:L534M;ENSP00000351338:L534M;ENSP00000414199:L534M	ENSP00000296440:L534M	L	-	1	2	2	PLXNB1	48438140	48438140	1.000000	0.71417	0.694000	0.30210	0.174000	0.22865	2.154000	0.42291	0.738000	0.32606	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.388988	1	0.170000	NM_002673			54	53		254	248	1		1	1		0	0	68	0		1	9.921959e-01	0	10	0	28	0	54	254
ATRIP	84126	broad.mit.edu	37	3	48495698	48495698	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000320211.3	+	4	665		c.e4-1		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393								Other conserved DNA damage response genes																														ENST00000320211.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.e4-1	Other conserved DNA damage response genes	ATR interacting protein							137.0	143.0	141.0					3																	48495698		2203	4300	6503	SO:0001630	splice_region_variant	84126	0	0					g.chr3:48495698A>C	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.553-1A>C	chr3.hg19:g.48495698A>C		0					ATRIP_ENST00000412052.1_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site		NM_130384.2	NP_569055.1	1	2	3	1.998468	Q8WXE1	ATRIP_HUMAN		4	665	+			A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	1	1	hg19		CCDS2768.1	1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815203	0.70912	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.136	0.65289	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ATRIP	48470702	48470702	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.099000	0.76981	2.222000	0.72286	0.533000	0.62120	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	1	0	1		2	2	2	0		0	0	165		165	165	1	2.060000	-20.000000	1	0.170000	NM_130384	Intron		111	111		687	675	1		1			0	0	165	0		1	0	0	0	0	0	0	111	687
ATRIP	84126	broad.mit.edu	37	3	48506304	48506304	+	Silent	SNP	C	C	T	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000320211.3	+	12	2243	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000357105.6_Silent_p.T583T|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000412052.1_Silent_p.T617T|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	710					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		20691	0.0		0.0	False		,,,				2504	0.0					ENST00000320211.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2128-2130)acC>acT	Other conserved DNA damage response genes	ATR interacting protein							57.0	51.0	53.0					3																	48506304		2203	4300	6503	SO:0001819	synonymous_variant	84126	7	121410	35				g.chr3:48506304C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2130C>T	chr3.hg19:g.48506304C>T		0					TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000412052.1_Silent_p.T617T|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000296443.9_5'Flank|ATRIP_ENST00000357105.6_Silent_p.T583T|ATRIP_ENST00000346691.4_Silent_p.T683T|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank	p.T710T	NM_130384.2	NP_569055.1	1	2	3	1.998468	Q8WXE1	ATRIP_HUMAN		12	2243	+			A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	ENST00000320211.3	1	1	hg19	c.2130C>T	CCDS2768.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.493764	1	0.170000	NM_130384			42	42		183	182	1		1	1		0	0	35	0		1	9.998849e-01	0	23	0	40	0	42	183
TREX1	11277	broad.mit.edu	37	3	48508597	48508597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000422277.2	+	1	1369	c.708C>T	c.(706-708)agC>agT	p.S236S	TREX1_ENST00000296443.9_Silent_p.S181S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000492235.1_3'UTR|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Silent_p.S181S	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	236					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612																																						ENST00000422277.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(706-708)agC>agT		three prime repair exonuclease 1							61.0	62.0	61.0					3																	48508597		2203	4300	6503	SO:0001819	synonymous_variant	11277	0	0					g.chr3:48508597C>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.708C>T	chr3.hg19:g.48508597C>T		0					TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000296443.9_Silent_p.S181S|TREX1_ENST00000436480.2_Silent_p.S181S|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR	p.S236S	NM_016381.4	NP_057465.1	1	2	3	1.998468	Q9NSU2	TREX1_HUMAN		1	1369	+			B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	ENST00000422277.2	1	1	hg19	c.708C>T	CCDS43086.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_016381			51	50		233	225	1		1	1		0	0	51	0		1	1	0	13	0	117	0	51	233
PFKFB4	5210	broad.mit.edu	37	3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000232375.3	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	61	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 metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562																																						ENST00000232375.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(181-183)cGa>cAa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							141.0	113.0	123.0					3																	48587583		2203	4300	6503	SO:0001583	missense	5210	0	0					g.chr3:48587583C>T	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.182G>A	chr3.hg19:g.48587583C>T	ENSP00000232375:p.Arg61Gln	0					PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q	p.R61Q	NM_004567.2	NP_004558.1	1	2	3	1.998468	Q16877	F264_HUMAN		2	294	-			Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	1	1	hg19	c.182G>A	CCDS2771.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.561027	0.96527	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.993;0.994;0.997;0.966	D	0.89580	0.3820	9	0.87932	D	0	-5.0995	15.5865	0.76489	0.0:1.0:0.0:0.0	.	50;61;61;61	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	Q	61;50;61;61;27;61;50;27;64	.	ENSP00000232375:R61Q	R	-	2	0	0	PFKFB4	48562587	48562587	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.737000	0.68606	2.532000	0.85374	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	1	0	1		2	2	2	0		0	0	61		61	58	1	2.060000	-20.000000	1	0.170000	NM_004567			48	47		221	212	1		1	1		0	0	61	0		1	9.674336e-01	0	4	0	24	0	48	221
UCN2	90226	broad.mit.edu	37	3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PFKFB4_ENST00000536104.1_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTCTGAGGGCGGAGCTGGAA	0.637																																						ENST00000273610.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999883	0.990000	1.000000																										0										c.(91-93)cGc>cAc		urocortin 2							42.0	41.0	42.0					3																	48600466		2203	4300	6503	SO:0001583	missense	90226	0	0					g.chr3:48600466C>T	AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"""Endogenous ligands"""	18414	protein-coding gene	gene with protein product	"""prepro-urocortin 2"""	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.92G>A	chr3.hg19:g.48600466C>T	ENSP00000273610:p.Arg31His	0					COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	p.R31H	NM_033199.3	NP_149976.1	1	2	3	1.998468	Q96RP3	UCN2_HUMAN		2	174	-			Q9BUG0	Missense_Mutation	SNP	ENST00000273610.3	0	1	hg19	c.92G>A	CCDS2772.1	1	.	.	.	.	.	.	.	.	.	.	C	9.062	0.994809	0.19043	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-1.96	0.07525	5.28	-1.96	0.07525	.	1.516670	0.04388	N	0.361943	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	9	0.46703	T	0.11	-14.0371	1.3254	0.02124	0.3784:0.1599:0.3189:0.1429	.	31	Q96RP3	UCN2_HUMAN	H	31	.	ENSP00000273610:R31H	R	-	2	0	0	UCN2	48575470	48575470	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.038000	0.13862	-0.329000	0.08527	-1.104000	0.02111	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_033199			19	19		86	84	1		1	0		0	0	12	0		9.999943e-01	9.436299e-02	0	0	0	3	0	19	86
COL7A1	1294	broad.mit.edu	37	3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2137	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)			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)		CGGTCTCCTTTGATGCCTGGC	0.622																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(6409-6411)Aaa>Gaa		collagen, type VII, alpha 1							61.0	53.0	56.0					3																	48611968		2203	4300	6503	SO:0001583	missense	1294	0	0					g.chr3:48611968T>C	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.6409A>G	chr3.hg19:g.48611968T>C	ENSP00000332371:p.Lys2137Glu	0					COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	p.K2137E	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		78	6516	-			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	1	1	hg19	c.6409A>G	CCDS2773.1	1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991386	0.35131	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.000000	0.42172	D	0.000743	D	0.95258	0.8462	M	0.79258	2.445	0.29570	N	0.849991	D	0.64830	0.994	D	0.64506	0.926	D	0.90654	0.4585	10	0.10111	T	0.7	.	13.4488	0.61158	0.0:0.0:0.0:1.0	.	2137	Q02388	CO7A1_HUMAN	E	2137;2105	ENSP00000332371:K2137E;ENSP00000412569:K2105E	ENSP00000332371:K2137E	K	-	1	0	0	COL7A1	48586972	48586972	0.983000	0.35010	1.000000	0.80357	0.136000	0.21042	2.066000	0.41452	2.099000	0.63709	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_000094			47	46		175	173	1		1	0		0	0	59	0		1	9.994014e-01	0	1	0	44	0	47	175
COL7A1	1294	broad.mit.edu	37	3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2046	Triple-helical region.		G -> V (in DDEB).		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)			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)		CCCAGCCCTGCCTGGGAGCCC	0.721																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137	GRCh37	CM992849	COL7A1	M		c.(6136-6138)gGc>gAc		collagen, type VII, alpha 1							18.0	20.0	19.0					3																	48612815		2200	4294	6494	SO:0001583	missense	1294	0	0					g.chr3:48612815C>T	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.6137G>A	chr3.hg19:g.48612815C>T	ENSP00000332371:p.Gly2046Asp	0					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	p.G2046D	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		73	6244	-			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	1	1	hg19	c.6137G>A	CCDS2773.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122614	0.56613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.433234	0.17763	N	0.162822	D	0.99736	0.9896	H	0.99011	4.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97496	1.0057	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2046	Q02388	CO7A1_HUMAN	D	2046;2014	ENSP00000332371:G2046D;ENSP00000412569:G2014D	ENSP00000332371:G2046D	G	-	2	0	0	COL7A1	48587819	48587819	1.000000	0.71417	0.977000	0.42913	0.921000	0.55340	7.570000	0.82390	2.426000	0.82243	0.563000	0.77884	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_000094			47	45		213	203	0		1	0		0	0	51	0		1	8.353871e-01	0	1	0	16	0	47	213
COL7A1	1294	broad.mit.edu	37	3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A	rs267599859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	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)			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)		TGATTCACCCGGTCTCCAGGG	0.587																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(4780-4782)Cgg>Tgg		collagen, type VII, alpha 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	106.0	104.0		4780	-2.0	0.2	3		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1594/2945	48619008	2,13004	2203	4300	6503	SO:0001583	missense	1294	5	121410	41				g.chr3:48619008G>A	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.4780C>T	chr3.hg19:g.48619008G>A	ENSP00000332371:p.Arg1594Trp	0					MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	p.R1594W	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		49	4887	-			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	1	1	hg19	c.4780C>T	CCDS2773.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454391	0.43634	2.27E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.41	5.25	-1.97	0.07503	5.25	-1.97	0.07503	.	0.000000	0.42548	D	0.000689	D	0.95762	0.8621	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92216	0.5780	10	0.72032	D	0.01	.	15.715	0.77661	0.0:0.0:0.2756:0.7244	.	1594	Q02388	CO7A1_HUMAN	W	1594	ENSP00000332371:R1594W;ENSP00000412569:R1594W	ENSP00000332371:R1594W	R	-	1	2	2	COL7A1	48594012	48594012	0.393000	0.25237	0.249000	0.24280	0.176000	0.22953	0.247000	0.18179	-0.359000	0.08150	-0.183000	0.12914	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-3.140522	1	0.170000	NM_000094			94	93		362	352	1		1	0		0	0	79	0		1	9.791205e-01	0	0	0	26	0	94	362
COL7A1	1294	broad.mit.edu	37	3	48621004	48621004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1462	Interrupted collagenous region.|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)			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)		CACCCGGAGACCCAGGTTGTC	0.617																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				137						c.(4384-4386)ggG>ggA		collagen, type VII, alpha 1							44.0	47.0	46.0					3																	48621004		2203	4300	6503	SO:0001819	synonymous_variant	1294	0	0					g.chr3:48621004C>T	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.4386G>A	chr3.hg19:g.48621004C>T		0					COL7A1_ENST00000454817.1_Silent_p.G1462G	p.G1462G	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		40	4493	-			Q14054|Q16507	Silent	SNP	ENST00000328333.8	1	1	hg19	c.4386G>A	CCDS2773.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_000094			45	44		250	244	1		1	0		0	0	62	0		1	9.444880e-01	0	1	0	28	0	45	250
COL7A1	1294	broad.mit.edu	37	3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1423	Interrupted collagenous region.|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)			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)		CGGCAGCCCAGGCTCCCCAGG	0.642																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(4267-4269)cCt>cTt		collagen, type VII, alpha 1							39.0	51.0	47.0					3																	48621343		2203	4299	6502	SO:0001583	missense	1294	0	0					g.chr3:48621343G>A	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.4268C>T	chr3.hg19:g.48621343G>A	ENSP00000332371:p.Pro1423Leu	0					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	p.P1423L	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		38	4375	-			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	1	1	hg19	c.4268C>T	CCDS2773.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182693	0.38511	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89270	-2.47;-2.49	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.46758	D	0.000273	D	0.94574	0.8252	M	0.86502	2.82	0.30089	N	0.808516	D	0.89917	1.0	D	0.66716	0.946	D	0.91979	0.5593	10	0.52906	T	0.07	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	1423	Q02388	CO7A1_HUMAN	L	1423	ENSP00000332371:P1423L;ENSP00000412569:P1423L	ENSP00000332371:P1423L	P	-	2	0	0	COL7A1	48596347	48596347	0.995000	0.38212	0.167000	0.22817	0.408000	0.30992	4.173000	0.58249	2.711000	0.92665	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_000094			48	48		185	181	1		1	0		0	0	39	0		1	8.678611e-01	0	0	0	16	0	48	185
COL7A1	1294	broad.mit.edu	37	3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1353	Interrupted collagenous region.|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)			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)		ATGACTTGTCCGGGAGCCCCC	0.582																																						ENST00000328333.8	1.000000	0.320000	5.700000e-01	3.900000e-01	0.470000	0.504929	0.470000	0.460000																										0				137						c.(4057-4059)Gga>Tga		collagen, type VII, alpha 1							111.0	116.0	114.0					3																	48621980		2203	4300	6503	SO:0001587	stop_gained	1294	0	0					g.chr3:48621980C>A	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.4057G>T	chr3.hg19:g.48621980C>A	ENSP00000332371:p.Gly1353*	0					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	p.G1353*	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		35	4164	-			Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	0	1	hg19	c.4057G>T	CCDS2773.1	0	.	.	.	.	.	.	.	.	.	.	C	43	10.205791	0.99359	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7269	0.77766	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	.	G	-	1	0	0	COL7A1	48596984	48596984	0.003000	0.15002	0.987000	0.45799	0.235000	0.25334	0.395000	0.20850	2.489000	0.83994	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	0	0	1		2	2	2	0		0	0	183		183	178	1	2.060000	-2.819807	1	0.170000	NM_000094			34	34		830	808	0		1	0		0	0	183	0		1	1.926293e-01	0	0	0	20	0	34	830
COL7A1	1294	broad.mit.edu	37	3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	51	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)			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)		AAATTGCTGCGGCCAATGGAT	0.602																																						ENST00000328333.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137	GRCh37	CM063914	COL7A1	M		c.(151-153)Cgc>Tgc		collagen, type VII, alpha 1							45.0	40.0	41.0					3																	48631916		2203	4300	6503	SO:0001583	missense	1294	3	121412	33				g.chr3:48631916G>A	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.151C>T	chr3.hg19:g.48631916G>A	ENSP00000332371:p.Arg51Cys	0					COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	p.R51C	NM_000094.3	NP_000085.1	1	2	3	1.998468	Q02388	CO7A1_HUMAN		2	258	-			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	1	1	hg19	c.151C>T	CCDS2773.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.657006	0.47467	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45606	D	0.000358	D	0.91955	0.7452	M	0.90977	3.165	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	D	0.92770	0.6231	10	0.62326	D	0.03	.	11.3221	0.49428	0.0:0.0:0.7699:0.2301	.	51	Q02388	CO7A1_HUMAN	C	51	ENSP00000332371:R51C;ENSP00000412569:R51C	ENSP00000332371:R51C	R	-	1	0	0	COL7A1	48606920	48606920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.425000	0.82216	0.555000	0.69702	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_000094			43	42		153	150	0		1	0		0	0	42	0		1	9.094025e-01	0	1	0	16	0	43	153
SLC26A6	65010	broad.mit.edu	37	3	48670685	48670685	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000395550.2	-	3	368	c.321G>T	c.(319-321)caG>caT	p.Q107H	SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	107					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGCTCACCCTGCGGAAGCT	0.592																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000395550.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																									SLC26A6/PRKAR2A(2)	0				19						c.(319-321)caG>caT		solute carrier family 26 (anion exchanger), member 6							30.0	36.0	34.0					3																	48670685		2063	4199	6262	SO:0001630	splice_region_variant	65010	0	0					g.chr3:48670685C>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.322+1G>T	chr3.hg19:g.48670685C>A		0					SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H	p.Q107H			1	2	3	1.998468	Q9BXS9	S26A6_HUMAN		3	368	-			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Splice_Site	SNP	ENST00000395550.2	1	0	hg19	c.321G>T	CCDS43087.1	1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816124	0.70912	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.95238	-3.17;-3.17;-3.17;-3.65;-3.17;-3.17;-3.17;-3.17	4.84	2.06	0.26882	4.84	2.06	0.26882	.	.	.	.	.	D	0.97558	0.9200	H	0.95043	3.615	0.39669	D	0.970724	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;0.999;1.0;1.0;1.0;0.999	D	0.96489	0.9362	9	0.87932	D	0	.	8.4616	0.32931	0.0:0.6957:0.0:0.3043	.	107;107;107;107;107;3501	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	107;107;107;107;107;86;107;107;107	ENSP00000404684:Q107H;ENSP00000378920:Q107H;ENSP00000373239:Q107H;ENSP00000337648:Q107H;ENSP00000351597:Q86H;ENSP00000401066:Q107H;ENSP00000401813:Q107H;ENSP00000405872:Q107H	ENSP00000307089:Q107H	Q	-	3	2	2	SLC26A6	48645689	48645689	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.877000	0.28106	0.245000	0.21373	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_022911	Missense_Mutation		21	21		79	79	1		1	1		0	0	20	0		9.999990e-01	9.599087e-01	0	2	0	21	0	21	79
SLC26A6	65010	broad.mit.edu	37	3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000395550.2	-	3	233	c.186C>A	c.(184-186)tgC>tgA	p.C62*	SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	62					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCACGGGAGCACCTAGGGA	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000395550.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SLC26A6/PRKAR2A(2)	0				19						c.(184-186)tgC>tgA		solute carrier family 26 (anion exchanger), member 6							42.0	50.0	48.0					3																	48670820		1997	4141	6138	SO:0001587	stop_gained	65010	0	0					g.chr3:48670820G>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.186C>A	chr3.hg19:g.48670820G>T	ENSP00000378920:p.Cys62*	0					SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*	p.C62*			1	2	3	1.998468	Q9BXS9	S26A6_HUMAN		3	233	-			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Nonsense_Mutation	SNP	ENST00000395550.2	0	1	hg19	c.186C>A	CCDS43087.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312981	0.81358	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.89	0.825	0.18824	4.89	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2132	0.37331	0.4019:0.0:0.5981:0.0	.	.	.	.	X	62;62;62;62;62;41;62;62;62	.	ENSP00000307089:C62X	C	-	3	2	2	SLC26A6	48645824	48645824	0.938000	0.31826	0.995000	0.50966	0.226000	0.24999	0.050000	0.14120	0.278000	0.22164	-0.258000	0.10820	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_022911			57	57		217	215	1		1	1		0	0	48	0		1	9.249926e-01	0	6	0	13	0	57	217
CELSR3	1951	broad.mit.edu	37	3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000164024.4	-	34	9684	c.9404C>A	c.(9403-9405)gCt>gAt	p.A3135D	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3135					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCGGCCAGCCATGGCGCC	0.687																																						ENST00000164024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(9403-9405)gCt>gAt		cadherin, EGF LAG seven-pass G-type receptor 3							35.0	36.0	36.0					3																	48677614		2201	4286	6487	SO:0001583	missense	1951	0	0					g.chr3:48677614G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9404C>A	chr3.hg19:g.48677614G>T	ENSP00000164024:p.Ala3135Asp	0					CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	p.A3135D	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		34	9684	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	1	hg19	c.9404C>A	CCDS2775.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862507	0.32884	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	4.81	3.91	0.45181	4.81	3.91	0.45181	.	.	.	.	.	T	0.54319	0.1851	N	0.14661	0.345	0.21697	N	0.999586	B;B;B	0.26258	0.145;0.09;0.112	B;B;B	0.27380	0.079;0.036;0.036	T	0.49790	-0.8902	9	0.54805	T	0.06	.	9.9508	0.41638	0.0:0.1512:0.692:0.1568	.	3140;3135;3233	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	D	3135;3140	ENSP00000164024:A3135D;ENSP00000445694:A3140D	ENSP00000164024:A3135D	A	-	2	0	0	CELSR3	48652618	48652618	1.000000	0.71417	0.383000	0.26132	0.720000	0.41350	4.780000	0.62382	0.970000	0.38263	0.555000	0.69702	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_001407			85	84		310	304	1		1	1	1	0	0	75	534		1	5.411040e-01	1	5	139	3	474	85	310
CELSR3	1951	broad.mit.edu	37	3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000164024.4	-	32	8957	c.8677G>A	c.(8677-8679)Gac>Aac	p.D2893N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2893					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCAGAGTCGGAGTCTGCG	0.562																																						ENST00000164024.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.993166	0.990000	1.000000																										0				83						c.(8677-8679)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 3							24.0	25.0	24.0					3																	48679431		2202	4289	6491	SO:0001583	missense	1951	1	120940	26				g.chr3:48679431C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8677G>A	chr3.hg19:g.48679431C>T	ENSP00000164024:p.Asp2893Asn	0					CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N|MIR4793_ENST00000577502.1_RNA	p.D2893N	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		32	8957	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	1	hg19	c.8677G>A	CCDS2775.1	1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	5.03	5.03	0.67393	.	.	.	.	.	D	0.90652	0.7068	M	0.82716	2.605	0.80722	D	1	P;P;D	0.89917	0.697;0.571;1.0	B;B;D	0.83275	0.103;0.048;0.996	D	0.91974	0.5589	9	0.87932	D	0	.	18.7191	0.91686	0.0:1.0:0.0:0.0	.	2898;2893;2991	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2893;2898	ENSP00000164024:D2893N;ENSP00000445694:D2898N	ENSP00000164024:D2893N	D	-	1	0	0	CELSR3	48654435	48654435	1.000000	0.71417	0.980000	0.43619	0.670000	0.39368	7.181000	0.77682	2.488000	0.83962	0.511000	0.50034	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.999980	1	0.170000	NM_001407			16	16		114	110	1		1	1	1	0	0	27	205		9.999390e-01	2.766650e-01	1	3	55	5	238	16	114
CELSR3	1951	broad.mit.edu	37	3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000164024.4	-	25	8249	c.7969C>A	c.(7969-7971)Ctg>Atg	p.L2657M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2657					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCTCACCCAGCAGCACAGCA	0.662																																						ENST00000164024.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				83						c.(7969-7971)Ctg>Atg		cadherin, EGF LAG seven-pass G-type receptor 3							32.0	35.0	34.0					3																	48682471		2201	4297	6498	SO:0001583	missense	1951	0	0					g.chr3:48682471G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7969C>A	chr3.hg19:g.48682471G>T	ENSP00000164024:p.Leu2657Met	0					CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M|MIR4793_ENST00000577502.1_RNA	p.L2657M	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		25	8249	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	1	hg19	c.7969C>A	CCDS2775.1	1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365189	0.61513	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.47177	0.85;0.85	5.15	2.17	0.27698	5.15	2.17	0.27698	GPCR, family 2-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.20986	0.625	0.27077	N	0.963176	D;D	0.64830	0.994;0.988	P;P	0.62491	0.903;0.9	T	0.23619	-1.0183	9	0.36615	T	0.2	.	1.2483	0.01977	0.1901:0.1252:0.4207:0.264	.	2657;2754	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2657;2662	ENSP00000164024:L2657M;ENSP00000445694:L2662M	ENSP00000164024:L2657M	L	-	1	2	2	CELSR3	48657475	48657475	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.228000	0.42981	0.555000	0.29079	-0.339000	0.08088	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_001407			28	28		150	150	1		1	0	1	0	0	30	116		1	1.857396e-01	9.999994e-01	0	27	5	106	28	150
CELSR3	1951	broad.mit.edu	37	3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000164024.4	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1158	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAACCAGGCGGACGTGCAC	0.532																																						ENST00000164024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(3472-3474)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							123.0	119.0	121.0					3																	48696595		2203	4300	6503	SO:0001583	missense	1951	119	121412	54				g.chr3:48696595C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3473G>A	chr3.hg19:g.48696595C>T	ENSP00000164024:p.Arg1158His	0					CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	p.R1158H	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		1	3753	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	0	hg19	c.3473G>A	CCDS2775.1	1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290134	0.10567	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51574	0.7;0.7	5.63	4.75	0.60458	5.63	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.20445	0.575	0.32999	D	0.525948	B;B	0.23316	0.083;0.047	B;B	0.25987	0.065;0.012	T	0.33317	-0.9873	9	0.11794	T	0.64	.	6.7548	0.23507	0.0:0.7018:0.0:0.2982	.	1158;1228	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1158	ENSP00000164024:R1158H;ENSP00000445694:R1158H	ENSP00000164024:R1158H	R	-	2	0	0	CELSR3	48671599	48671599	0.988000	0.35896	0.997000	0.53966	0.894000	0.52154	2.409000	0.44583	1.389000	0.46526	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.012515	1	0.170000	NM_001407			83	83		436	426	1		1	0	1	0	0	92	284		1	6.987515e-02	1	0	46	3	288	83	436
CELSR3	1951	broad.mit.edu	37	3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000164024.4	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	677	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTCTGCATCGACTGCCTGA	0.498																																						ENST00000164024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2029-2031)Gat>Aat		cadherin, EGF LAG seven-pass G-type receptor 3							74.0	69.0	71.0					3																	48698039		2203	4300	6503	SO:0001583	missense	1951	0	0					g.chr3:48698039C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2029G>A	chr3.hg19:g.48698039C>T	ENSP00000164024:p.Asp677Asn	0					CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	p.D677N	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		1	2309	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	1	hg19	c.2029G>A	CCDS2775.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317535	0.81469	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73152	-0.72;-0.72	5.84	5.84	0.93424	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92067	0.7486	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95019	0.8159	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	677;747	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	677	ENSP00000164024:D677N;ENSP00000445694:D677N	ENSP00000164024:D677N	D	-	1	0	0	CELSR3	48673043	48673043	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_001407			57	55		219	216	1		1	1	1	0	0	64	1259		1	2.810918e-01	1	2	247	3	1073	57	219
CELSR3	1951	broad.mit.edu	37	3	48698703	48698703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000164024.4	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	CELSR3_ENST00000544264.1_Silent_p.L455L|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	455	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCACGCAGCTGCAGGA	0.677																																						ENST00000164024.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1363-1365)ctG>ctA		cadherin, EGF LAG seven-pass G-type receptor 3							29.0	27.0	28.0					3																	48698703		2202	4300	6502	SO:0001819	synonymous_variant	1951	2	121344	29				g.chr3:48698703C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1365G>A	chr3.hg19:g.48698703C>T		0					RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L455L	p.L455L	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		1	1645	-			O75092	Silent	SNP	ENST00000164024.4	1	1	hg19	c.1365G>A	CCDS2775.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1		2	2	2	0		0	0	41		41	38	1	2.060000	-20.000000	1	0.170000	NM_001407			58	58		163	163	0		1		1	0	0	41	1040		1	0	1	0	238	0	976	58	163
CELSR3	1951	broad.mit.edu	37	3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000164024.4	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	229					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGGGGGCTGTCCTTTCT	0.652																																						ENST00000164024.4	1.000000	0.280000	5.400000e-01	3.500000e-01	0.420000	0.465279	0.420000	0.420000																										0				83						c.(685-687)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 3							57.0	63.0	61.0					3																	48699383		2202	4299	6501	SO:0001583	missense	1951	0	0					g.chr3:48699383C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.685G>T	chr3.hg19:g.48699383C>A	ENSP00000164024:p.Ala229Ser	0					RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S	p.A229S	NM_001407.2	NP_001398.2	1	2	3	1.998468	Q9NYQ7	CELR3_HUMAN		1	965	-			O75092	Missense_Mutation	SNP	ENST00000164024.4	1	1	hg19	c.685G>T	CCDS2775.1	0	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339064	0.01287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.43	4.06	-1.23	0.09465	4.06	-1.23	0.09465	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	9	0.18710	T	0.47	.	2.846	0.05543	0.1907:0.5242:0.1239:0.1611	.	229;299	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	229	ENSP00000164024:A229S;ENSP00000445694:A229S	ENSP00000164024:A229S	A	-	1	0	0	CELSR3	48674387	48674387	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.520000	0.06252	-0.245000	0.09625	0.609000	0.83330	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	0	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-3.761586	1	0.170000	NM_001407			26	26		704	690	0		1		1	0	0	121	604		9.999999e-01	0	9.999999e-01	0	28	0	734	26	704
NCKIPSD	51517	broad.mit.edu	37	3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	446	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517																																						ENST00000294129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1336-1338)Gcc>Acc		NCK interacting protein with SH3 domain							154.0	134.0	141.0					3																	48717248		2203	4300	6503	SO:0001583	missense	51517	0	0					g.chr3:48717248C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1336G>A	chr3.hg19:g.48717248C>T	ENSP00000294129:p.Ala446Thr	0					NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	p.A446T	NM_016453.2	NP_057537.1	1	2	3	1.998468	Q9NZQ3	SPN90_HUMAN		7	1455	-			B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	1	1	hg19	c.1336G>A	CCDS2776.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659780|2.659780	0.47572|0.47572	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.64803|.	0.9;-0.12;-0.12|.	5.2|5.2	5.2|5.2	0.72013|0.72013	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.287923|.	0.28706|.	U|.	0.014408|.	T|T	0.70150|0.70150	0.3191|0.3191	L|L	0.51422|0.51422	1.61|1.61	0.39345|0.39345	D|D	0.965654|0.965654	P;P|.	0.38767|.	0.514;0.646|.	B;B|.	0.36608|.	0.115;0.229|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.14656|.	T|.	0.56|.	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;439|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	T|D	446;439;446|181	ENSP00000342621:A446T;ENSP00000389059:A439T;ENSP00000294129:A446T|.	ENSP00000294129:A446T|.	A|G	-|-	1|2	0|0	0|0	NCKIPSD|NCKIPSD	48692252|48692252	48692252|48692252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.733000|3.733000	0.55029|0.55029	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GCC|GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_016453			85	84		293	285	1		1	1		0	0	72	0		1	9.999117e-01	0	9	0	41	0	85	293
NCKIPSD	51517	broad.mit.edu	37	3	48717612	48717612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	381					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622																																						ENST00000294129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1141-1143)agG>agA		NCK interacting protein with SH3 domain							46.0	41.0	43.0					3																	48717612		2203	4300	6503	SO:0001819	synonymous_variant	51517	0	0					g.chr3:48717612C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1143G>A	chr3.hg19:g.48717612C>T		0					NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	p.R381R	NM_016453.2	NP_057537.1	1	2	3	1.998468	Q9NZQ3	SPN90_HUMAN		6	1262	-			B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	1	1	hg19	c.1143G>A	CCDS2776.1	1	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810200	0.16537	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.88	-1.47	0.08772	4.88	-1.47	0.08772	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	7.2578	0.26187	0.0:0.3798:0.117:0.5032	.	.	.	.	T	117	.	.	A	-	1	0	0	NCKIPSD	48692616	48692616	0.171000	0.23029	0.997000	0.53966	0.907000	0.53573	-0.391000	0.07323	-0.118000	0.11851	-0.244000	0.11960	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_016453			49	49		169	166	0		1	1		0	0	45	0		1	9.999969e-01	0	10	0	59	0	49	169
P4HTM	54681	broad.mit.edu	37	3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000383729.4	+	6	1336	c.965G>A	c.(964-966)gGg>gAg	p.G322E	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.G322E	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	322	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622																																						ENST00000383729.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(964-966)gGg>gAg		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						103.0	86.0	92.0					3																	49042371		2203	4300	6503	SO:0001583	missense	54681	0	0					g.chr3:49042371G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.965G>A	chr3.hg19:g.49042371G>A	ENSP00000373235:p.Gly322Glu	0					WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.G322E|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank	p.G322E	NM_177939.2	NP_808808.1	1	2	3	1.998468	Q9NXG6	P4HTM_HUMAN		6	1336	+			Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	1	1	hg19	c.965G>A	CCDS43089.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606911	0.87157	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.69175	-0.38	5.29	4.41	0.53225	5.29	4.41	0.53225	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.103605	0.64402	D	0.000003	D	0.83922	0.5359	M	0.90595	3.13	0.51482	D	0.999927	D;D	0.64830	0.966;0.994	P;D	0.67900	0.875;0.954	D	0.87471	0.2414	10	0.66056	D	0.02	-3.3372	15.3609	0.74472	0.0:0.0:0.8593:0.1406	.	322;322	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	322	ENSP00000373235:G322E	ENSP00000341422:G322E	G	+	2	0	0	P4HTM	49017375	49017375	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	1.231000	0.43661	0.650000	0.86243	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	1	0	1		2	2	2	0		0	0	113		113	85	1	2.060000	-2.988658	1	0.170000	NM_177938			99	75		433	340	1		1	1		0	0	113	0		1	1	0	44	0	95	0	99	433
WDR6	11180	broad.mit.edu	37	3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000608424.1	+	2	433	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	WDR6_ENST00000448293.1_Missense_Mutation_p.A81S|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	132					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582																																						ENST00000608424.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(394-396)Gcc>Tcc		WD repeat domain 6							70.0	68.0	69.0					3																	49049361		2203	4300	6503	SO:0001583	missense	11180	0	0					g.chr3:49049361G>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.394G>T	chr3.hg19:g.49049361G>T	ENSP00000477389:p.Ala132Ser	0					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S	p.A132S			1	2	3	1.998468	Q9NNW5	WDR6_HUMAN		2	433	+			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	1	1	hg19	c.394G>T		1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621042	0.46736	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.77098	-0.06;-0.06;-1.07	5.43	5.43	0.79202	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.055894	0.64402	D	0.000001	T	0.74543	0.3730	L	0.28115	0.83	0.37951	D	0.932645	D;P	0.53312	0.959;0.826	P;B	0.50109	0.631;0.341	T	0.75007	-0.3469	10	0.28530	T	0.3	-21.9638	18.0143	0.89233	0.0:0.0:1.0:0.0	.	132;81	Q9NNW5;E9PDU5	WDR6_HUMAN;.	S	162;164;132;81	ENSP00000378857:A162S;ENSP00000387692:A164S;ENSP00000413432:A81S	ENSP00000346247:A132S	A	+	1	0	0	WDR6	49024365	49024365	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	6.145000	0.71769	2.548000	0.85928	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				61	61		275	273	1		1	1		0	0	74	0		1	1	0	55	0	129	0	61	275
WDR6	11180	broad.mit.edu	37	3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000608424.1	+	3	2677	c.2638G>A	c.(2638-2640)Gct>Act	p.A880T	WDR6_ENST00000448293.1_Missense_Mutation_p.A829T|WDR6_ENST00000395474.3_Missense_Mutation_p.A910T|WDR6_ENST00000415265.2_Missense_Mutation_p.A328T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	880					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCCTTGTGGCTGCAGCCTG	0.587											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000608424.1	1.000000	0.240000	6.200000e-01	3.300000e-01	0.450000	0.490945	0.450000	0.430000																										0				26						c.(2638-2640)Gct>Act		WD repeat domain 6							57.0	56.0	57.0					3																	49051698		2203	4300	6503	SO:0001583	missense	11180	2	121412	34				g.chr3:49051698G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2638G>A	chr3.hg19:g.49051698G>A	ENSP00000477389:p.Ala880Thr	0		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000395474.3_Missense_Mutation_p.A910T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T	p.A880T			1	2	3	1.998468	Q9NNW5	WDR6_HUMAN		3	2677	+			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	1	1	hg19	c.2638G>A		0	.	.	.	.	.	.	.	.	.	.	G	36	5.657365	0.96724	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.74737	2.43;-0.87;-0.87	5.58	5.58	0.84498	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050208	0.85682	D	0.000000	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.984;0.995	T	0.79794	-0.1653	10	0.25106	T	0.35	-16.8242	18.5456	0.91045	0.0:0.0:1.0:0.0	.	328;880;829	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	910;328;829	ENSP00000378857:A910T;ENSP00000412195:A328T;ENSP00000413432:A829T	ENSP00000378857:A910T	A	+	1	0	0	WDR6	49026702	49026702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.626000	0.88956	0.555000	0.69702	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	0	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-12.760070	1	0.170000				12	11		315	310	0		1	1		0	0	66	0		9.990588e-01	9.974997e-01	0	19	0	252	0	12	315
NDUFAF3	25915	broad.mit.edu	37	3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|DALRD3_ENST00000313778.5_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	92					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562																																						ENST00000326925.6	1.000000	0.710000	9.900000e-01	7.900000e-01	0.880000	0.884490	0.880000	1.000000																										0				8						c.(274-276)Gga>Aga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							170.0	169.0	169.0					3																	49060138		2203	4300	6503	SO:0001583	missense	25915	0	0					g.chr3:49060138G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.274G>A	chr3.hg19:g.49060138G>A	ENSP00000323076:p.Gly92Arg	0					MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000440857.1_5'Flank	p.G92R	NM_199069.1	NP_951032.1	1	2	3	1.998468	Q9BU61	NDUF3_HUMAN		3	1408	+				Missense_Mutation	SNP	ENST00000326925.6	1	1	hg19	c.274G>A	CCDS2784.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876088	0.91664	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	D	0.63597	0.916	T	0.76069	-0.3094	10	0.15952	T	0.53	-13.5357	18.9288	0.92556	0.0:0.0:1.0:0.0	.	92	Q9BU61	NDUF3_HUMAN	R	35;92;35;35	ENSP00000323003:G35R;ENSP00000323076:G92R;ENSP00000378843:G35R;ENSP00000402465:G35R	ENSP00000323003:G35R	G	+	1	0	0	NDUFAF3	49035142	49035142	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.230000	0.95299	2.567000	0.86603	0.591000	0.81541	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	1	0	1		2	2	2	0		0	0	252		252	246	1	2.060000	-3.075755	1	0.170000	NM_199069			88	86		1099	1083	0		1	1		0	0	252	0		1	1	0	74	0	532	0	88	1099
NDUFAF3	25915	broad.mit.edu	37	3	49060385	49060385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000451378.2_Silent_p.G81G|NDUFAF3_ENST00000326912.4_Silent_p.G81G|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000395458.2_Silent_p.G81G|DALRD3_ENST00000313778.5_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	138					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637																																						ENST00000326925.6	1.000000	0.730000	1	8.400000e-01	0.980000	0.940895	0.980000	1.000000																										0				8						c.(412-414)ggC>ggT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							77.0	84.0	81.0					3																	49060385		2203	4300	6503	SO:0001819	synonymous_variant	25915	0	0					g.chr3:49060385C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.414C>T	chr3.hg19:g.49060385C>T		0					MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000326912.4_Silent_p.G81G|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000440857.1_5'Flank	p.G138G	NM_199069.1	NP_951032.1	1	2	3	1.998468	Q9BU61	NDUF3_HUMAN		4	1548	+				Silent	SNP	ENST00000326925.6	1	1	hg19	c.414C>T	CCDS2784.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	1	0	1		2	2	2	0		0	0	102		102	98	1	2.060000	-12.974300	1	0.170000	NM_199069			48	46		535	522	1		1	1		0	0	102	0		1	1	0	112	0	599	0	48	535
QRICH1	54870	broad.mit.edu	37	3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	507						nucleus (GO:0005634)				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)		CAGCAGTTGGCGCCCTGCAAC	0.512																																						ENST00000395443.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1519-1521)cGc>cAc		glutamine-rich 1							64.0	57.0	59.0					3																	49084009		2203	4300	6503	SO:0001583	missense	54870	1	121408	26				g.chr3:49084009C>T		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.1520G>A	chr3.hg19:g.49084009C>T	ENSP00000378830:p.Arg507His	0					QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H|QRICH1_ENST00000479449.1_5'UTR	p.R507H	NM_198880.1	NP_942581.1	1	2	3	1.998468	Q2TAL8	QRIC1_HUMAN		5	1992	-			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	1	1	hg19	c.1520G>A	CCDS2787.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.518919	0.96416	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78607	-0.2138	9	0.66056	D	0.02	-2.5307	20.1663	0.98152	0.0:1.0:0.0:0.0	.	507	Q2TAL8	QRIC1_HUMAN	H	507	.	ENSP00000350094:R507H	R	-	2	0	0	QRICH1	49059013	49059013	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.209000	0.77916	2.773000	0.95371	0.585000	0.79938	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.955457	1	0.170000	NM_017730			51	50		255	254	1		1	1		0	0	55	0		1	1	0	46	0	119	0	51	255
QRICH1	54870	broad.mit.edu	37	3	49094859	49094859	+	Silent	SNP	G	G	A	rs200111153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	258	Gln-rich.					nucleus (GO:0005634)				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)		CTGAGATGGCGTAGGACACAG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19888	0.0		0.0	False		,,,				2504	0.0					ENST00000395443.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(772-774)taC>taT		glutamine-rich 1							57.0	55.0	56.0					3																	49094859		2203	4300	6503	SO:0001819	synonymous_variant	54870	13	121412	42				g.chr3:49094859G>A		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.774C>T	chr3.hg19:g.49094859G>A		0					QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y|QRICH1_ENST00000479449.1_Intron	p.Y258Y	NM_198880.1	NP_942581.1	1	2	3	1.998468	Q2TAL8	QRIC1_HUMAN		3	1246	-			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	1	1	hg19	c.774C>T	CCDS2787.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000	NM_017730			70	70		373	366	0		1	1		0	0	84	0		1	1	0	34	0	142	0	70	373
USP19	10869	broad.mit.edu	37	3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000398888.2	-	25	3875	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H|USP19_ENST00000453664.1_Missense_Mutation_p.R1277H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1186	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577																																						ENST00000398888.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3556-3558)cGc>cAc		ubiquitin specific peptidase 19							53.0	59.0	57.0					3																	49147789		2165	4262	6427	SO:0001583	missense	10869	0	0					g.chr3:49147789C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3557G>A	chr3.hg19:g.49147789C>T	ENSP00000381863:p.Arg1186His	0					USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000453664.1_Missense_Mutation_p.R1277H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H	p.R1186H	NM_006677.2	NP_006668.1	1	2	3	1.998468	O94966	UBP19_HUMAN		25	3875	-			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	1	1	hg19	c.3557G>A	CCDS43090.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238243	0.79800	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	5.67	0.87782	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046862	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25485	0.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.955	T	0.33574	-0.9863	10	0.45353	T	0.12	-17.718	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1287;1277;1186;1226;994	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	994;1226;1289;1277;1226;1186;1287	ENSP00000381870:R994H;ENSP00000381872:R1226H;ENSP00000395260:R1289H;ENSP00000400090:R1277H;ENSP00000381867:R1226H;ENSP00000381863:R1186H;ENSP00000401197:R1287H	ENSP00000381863:R1186H	R	-	2	0	0	USP19	49122793	49122793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_006677			55	54		265	259	1		1	1		0	0	66	0		1	1	0	34	0	114	0	55	265
USP19	10869	broad.mit.edu	37	3	49152269	49152269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49152269C>T	ENST00000398888.2	-	14	2228	c.1910G>A	c.(1909-1911)aGg>aAg	p.R637K	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K|USP19_ENST00000453664.1_Missense_Mutation_p.R728K|USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	637	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGTCATTCCTCATCTTGTG	0.557																																						ENST00000398888.2	1.000000	0.200000	5.600000e-01	2.800000e-01	0.390000	0.440118	0.390000	0.370000																										0				38						c.(1909-1911)aGg>aAg		ubiquitin specific peptidase 19							89.0	89.0	89.0					3																	49152269		2138	4248	6386	SO:0001583	missense	10869	0	0					g.chr3:49152269C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1910G>A	chr3.hg19:g.49152269C>T	ENSP00000381863:p.Arg637Lys	0					USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000453664.1_Missense_Mutation_p.R728K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K	p.R637K	NM_006677.2	NP_006668.1	1	2	3	1.998468	O94966	UBP19_HUMAN		14	2228	-			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	1	1	hg19	c.1910G>A	CCDS43090.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.013981	0.97200	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.81	5.81	0.92471	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.81942	2.565	0.80722	D	1	D;D;D;P;D	0.61697	0.99;0.99;0.978;0.927;0.978	D;D;D;D;D	0.75484	0.986;0.986;0.978;0.953;0.978	T	0.63963	-0.6518	10	0.87932	D	0	-22.8041	20.0726	0.97729	0.0:1.0:0.0:0.0	.	738;728;637;677;445	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	445;677;740;728;677;637;738	ENSP00000381870:R445K;ENSP00000381872:R677K;ENSP00000395260:R740K;ENSP00000400090:R728K;ENSP00000381867:R677K;ENSP00000381863:R637K;ENSP00000401197:R738K	ENSP00000381863:R637K	R	-	2	0	0	USP19	49127273	49127273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.751000	0.85126	2.738000	0.93877	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.024576	1	0.170000	NM_006677			10	10		303	297	0		1	1		0	0	76	0		9.966941e-01	9.219014e-01	0	4	0	132	0	10	303
USP19	10869	broad.mit.edu	37	3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000398888.2	-	8	1334	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000453664.1_Missense_Mutation_p.G430E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	339	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627																																						ENST00000398888.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1015-1017)gGg>gAg		ubiquitin specific peptidase 19							40.0	45.0	44.0					3																	49153749		2003	4166	6169	SO:0001583	missense	10869	0	0					g.chr3:49153749C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1016G>A	chr3.hg19:g.49153749C>T	ENSP00000381863:p.Gly339Glu	0					USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000453664.1_Missense_Mutation_p.G430E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E	p.G339E	NM_006677.2	NP_006668.1	1	2	3	1.998468	O94966	UBP19_HUMAN		8	1334	-			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	1	1	hg19	c.1016G>A	CCDS43090.1	1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885364	0.72410	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.07	6.07	0.98685	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.098181	0.64402	D	0.000001	T	0.33789	0.0875	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998;0.981	T	0.00312	-1.1826	10	0.56958	D	0.05	-32.7097	15.6958	0.77494	0.0:0.8637:0.1363:0.0	.	503;440;430;339;377;425;145	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	E	145;377;440;430;377;339;440;425;425	ENSP00000381870:G145E;ENSP00000381872:G377E;ENSP00000395260:G440E;ENSP00000400090:G430E;ENSP00000381867:G377E;ENSP00000381863:G339E;ENSP00000401197:G440E;ENSP00000303503:G425E	ENSP00000303503:G425E	G	-	2	0	0	USP19	49128753	49128753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_006677			50	50		230	226	1		1	1		0	0	53	0		1	9.999999e-01	0	35	0	81	0	50	230
USP19	10869	broad.mit.edu	37	3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000398888.2	-	6	1067	c.749G>T	c.(748-750)aGc>aTc	p.S250I	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000453664.1_Missense_Mutation_p.S341I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	250					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGTTTCTGCTCCGGACCAT	0.587																																						ENST00000398888.2	1.000000	0.360000	8.600000e-01	4.900000e-01	0.640000	0.672450	0.640000	1.000000																										0				38						c.(748-750)aGc>aTc		ubiquitin specific peptidase 19							56.0	61.0	59.0					3																	49154234		2033	4180	6213	SO:0001583	missense	10869	0	0					g.chr3:49154234C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.749G>T	chr3.hg19:g.49154234C>A	ENSP00000381863:p.Ser250Ile	0					USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000453664.1_Missense_Mutation_p.S341I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I	p.S250I	NM_006677.2	NP_006668.1	1	2	3	1.998468	O94966	UBP19_HUMAN		6	1067	-			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	1	1	hg19	c.749G>T	CCDS43090.1	0	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290237	0.05568	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.32515	2.11;2.1;2.2;2.19;2.1;2.18;2.2;1.45	5.72	0.438	0.16560	5.72	0.438	0.16560	Domain of unknown function DUF1872 (1);	1.260270	0.04631	N	0.403623	T	0.15782	0.0380	N	0.08118	0	0.20821	N	0.999842	B;B;B;B;B;B;B	0.28584	0.045;0.035;0.045;0.178;0.002;0.216;0.003	B;B;B;B;B;B;B	0.26969	0.075;0.055;0.075;0.037;0.008;0.072;0.005	T	0.21245	-1.0251	10	0.48119	T	0.1	-0.357	4.0236	0.09677	0.2608:0.4967:0.0:0.2425	.	414;351;341;250;288;336;56	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	I	56;288;351;341;288;250;351;336;336;98	ENSP00000381870:S56I;ENSP00000381872:S288I;ENSP00000395260:S351I;ENSP00000400090:S341I;ENSP00000381867:S288I;ENSP00000381863:S250I;ENSP00000401197:S351I;ENSP00000303503:S336I	ENSP00000303503:S336I	S	-	2	0	0	USP19	49129238	49129238	0.040000	0.19996	0.108000	0.21378	0.006000	0.05464	-0.227000	0.09126	-0.136000	0.11475	-0.145000	0.13849	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-16.521010	1	0.170000	NM_006677			14	14		250	247	0		1	1		0	0	54	0		9.997581e-01	9.698369e-01	0	6	0	101	0	14	250
LAMB2	3913	broad.mit.edu	37	3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1558	Domain I.				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)			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)		CTCTGCAATCGCACCCGCCAG	0.607																																						ENST00000418109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(4672-4674)gCg>gTg		laminin, beta 2 (laminin S)							59.0	57.0	58.0					3																	49159704		2203	4300	6503	SO:0001583	missense	3913	2	121410	38				g.chr3:49159704G>A		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.4673C>T	chr3.hg19:g.49159704G>A	ENSP00000388325:p.Ala1558Val	0					LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398898.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000398892.3_5'Flank	p.A1558V	NM_002292.3	NP_002283.3	1	2	3	1.998468	P55268	LAMB2_HUMAN		29	4837	-			Q16321	Missense_Mutation	SNP	ENST00000418109.1	1	1	hg19	c.4673C>T	CCDS2789.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358164	0.41801	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34859	1.34;1.34	5.27	-5.68	0.02436	5.27	-5.68	0.02436	.	0.294380	0.35525	N	0.003158	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.21151	0.033	T	0.03545	-1.1026	10	0.66056	D	0.02	.	21.1267	0.99946	0.0:0.0:0.1172:0.8828	.	1558	P55268	LAMB2_HUMAN	V	1558;1558;325	ENSP00000388325:A1558V;ENSP00000307156:A1558V	ENSP00000307156:A1558V	A	-	2	0	0	LAMB2	49134708	49134708	0.637000	0.27216	0.000000	0.03702	0.679000	0.39708	1.191000	0.32138	-0.833000	0.04245	0.650000	0.86243	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.386743	1	0.170000	NM_002292			74	73		291	289	1		1	1		0	0	56	0		1	1	0	55	0	531	0	74	291
LAMB2	3913	broad.mit.edu	37	3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T	rs536235346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	925	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		GGGACAGGGCCGGCACTGGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18742	0.001		0.0	False		,,,				2504	0.0					ENST00000418109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2773-2775)cGg>cAg		laminin, beta 2 (laminin S)							37.0	37.0	37.0					3																	49162549		2203	4300	6503	SO:0001583	missense	3913	7	121400	36				g.chr3:49162549C>T		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.2774G>A	chr3.hg19:g.49162549C>T	ENSP00000388325:p.Arg925Gln	0					LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	p.R925Q	NM_002292.3	NP_002283.3	1	2	3	1.998468	P55268	LAMB2_HUMAN		21	2938	-			Q16321	Missense_Mutation	SNP	ENST00000418109.1	1	1	hg19	c.2774G>A	CCDS2789.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.147415	0.94603	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62788	0.0;0.0	5.98	5.98	0.97165	5.98	5.98	0.97165	EGF-like, laminin (2);	0.058682	0.64402	D	0.000002	T	0.70570	0.3239	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.65236	-0.6217	10	0.31617	T	0.26	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	925	P55268	LAMB2_HUMAN	Q	925	ENSP00000388325:R925Q;ENSP00000307156:R925Q	ENSP00000307156:R925Q	R	-	2	0	0	LAMB2	49137553	49137553	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.031000	0.57267	2.847000	0.97988	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_002292			68	66		275	267	1		1	1		0	0	59	0		1	1	0	81	0	415	0	68	275
LAMB2	3913	broad.mit.edu	37	3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	504	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		CACCAGGCAGCGGTCACATCC	0.572																																						ENST00000418109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1510-1512)cGc>cAc		laminin, beta 2 (laminin S)							96.0	90.0	92.0					3																	49167044		2203	4300	6503	SO:0001583	missense	3913	0	0					g.chr3:49167044C>T		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.1511G>A	chr3.hg19:g.49167044C>T	ENSP00000388325:p.Arg504His	0					LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	p.R504H	NM_002292.3	NP_002283.3	1	2	3	1.998468	P55268	LAMB2_HUMAN		12	1675	-			Q16321	Missense_Mutation	SNP	ENST00000418109.1	1	1	hg19	c.1511G>A	CCDS2789.1	1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045624	0.36085	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	5.3	-3.26	0.05064	5.3	-3.26	0.05064	EGF-like, laminin (4);	0.497453	0.21653	N	0.071147	T	0.52419	0.1733	M	0.65975	2.015	0.36992	D	0.894853	B	0.11235	0.004	B	0.06405	0.002	T	0.30090	-0.9990	10	0.51188	T	0.08	.	8.3145	0.32091	0.1225:0.1971:0.0:0.6805	.	504	P55268	LAMB2_HUMAN	H	504	ENSP00000388325:R504H;ENSP00000307156:R504H	ENSP00000307156:R504H	R	-	2	0	0	LAMB2	49142048	49142048	0.889000	0.30405	0.449000	0.26957	0.681000	0.39784	0.853000	0.27777	-0.824000	0.04295	-0.345000	0.07892	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.999610	1	0.170000	NM_002292			40	39		182	177	1		1	1		0	0	43	0		1	1	0	41	0	238	0	40	182
LAMB2	3913	broad.mit.edu	37	3	49168875	49168875	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	217	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)			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)		CGATAGATGACCTGGAGAAGC	0.597																																						ENST00000418109.1	1.000000	0.280000	5.800000e-01	3.600000e-01	0.450000	0.487240	0.450000	0.440000																										0				61						c.(649-651)Gtc>Atc		laminin, beta 2 (laminin S)							123.0	116.0	118.0					3																	49168875		2203	4300	6503	SO:0001630	splice_region_variant	3913	0	0					g.chr3:49168875C>T		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.649-1G>A	chr3.hg19:g.49168875C>T		0					LAMB2_ENST00000305544.4_Splice_Site_p.V217I	p.V217I	NM_002292.3	NP_002283.3	1	2	3	1.998468	P55268	LAMB2_HUMAN		7	813	-			Q16321	Splice_Site	SNP	ENST00000418109.1	0	1	hg19	c.649G>A	CCDS2789.1	0	.	.	.	.	.	.	.	.	.	.	c	22.7	4.326127	0.81580	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76709	-1.04;-1.04;-1.04	4.88	4.88	0.63580	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.066361	0.64402	D	0.000017	D	0.82618	0.5076	L	0.49640	1.575	0.58432	D	0.999998	D	0.59357	0.985	P	0.60345	0.873	T	0.79065	-0.1956	10	0.23302	T	0.38	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	217	P55268	LAMB2_HUMAN	I	217;217;68	ENSP00000388325:V217I;ENSP00000307156:V217I;ENSP00000444751:V68I	ENSP00000307156:V217I	V	-	1	0	0	LAMB2	49143879	49143879	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.858000	0.69532	2.541000	0.85698	0.651000	0.88453	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-19.241950	1	0.170000	NM_002292	Missense_Mutation		21	21		542	531	0		1	1		0	0	119	0		9.999970e-01	9.990780e-01	0	11	0	274	0	21	542
LAMB2	3913	broad.mit.edu	37	3	49168980	49168980	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	212	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)			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)		CGCCTTCAGTGGATGGCTCAA	0.597																																						ENST00000418109.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(634-636)tcC>tcA		laminin, beta 2 (laminin S)							148.0	153.0	151.0					3																	49168980		2203	4300	6503	SO:0001819	synonymous_variant	3913	0	0					g.chr3:49168980G>T		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.636C>A	chr3.hg19:g.49168980G>T		0					LAMB2_ENST00000305544.4_Silent_p.S212S	p.S212S	NM_002292.3	NP_002283.3	1	2	3	1.998468	P55268	LAMB2_HUMAN		6	800	-			Q16321	Silent	SNP	ENST00000418109.1	1	1	hg19	c.636C>A	CCDS2789.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	0	1		2	2	2	0		0	0	261		261	259	1	2.060000	-3.319150	1	0.170000	NM_002292			205	199		1039	1016	1		1	1		0	0	261	0		1	1	0	45	0	235	0	205	1039
CCDC36	339834	broad.mit.edu	37	3	49293689	49293689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000296449.5_Silent_p.V253V|CCDC36_ENST00000452691.2_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	253										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)		TGCCCAGTGTCCTAGCAGAGC	0.532																																						ENST00000438782.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(757-759)gtC>gtT		coiled-coil domain containing 36							84.0	80.0	81.0					3																	49293689		2203	4300	6503	SO:0001819	synonymous_variant	339834	0	0					g.chr3:49293689C>T	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.759C>T	chr3.hg19:g.49293689C>T		0					CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V	p.V253V			1	2	3	1.998468	Q8IYA8	CCD36_HUMAN		8	995	+			C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	1	1	hg19	c.759C>T	CCDS33755.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_178173			104	102		335	327	1		1	0		0	0	77	0		1	5.709976e-02	0	0	0	2	0	104	335
USP4	7375	broad.mit.edu	37	3	49332010	49332010	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000265560.4	-	14	1759	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	USP4_ENST00000351842.4_Silent_p.S524S	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	571	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537																																						ENST00000265560.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1711-1713)tcC>tcT		ubiquitin specific peptidase 4 (proto-oncogene)							102.0	83.0	89.0					3																	49332010		2203	4300	6503	SO:0001819	synonymous_variant	7375	2	121412	31				g.chr3:49332010G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1713C>T	chr3.hg19:g.49332010G>A		0					USP4_ENST00000351842.4_Silent_p.S524S	p.S571S	NM_003363.3	NP_003354.2	1	2	3	1.998468	Q13107	UBP4_HUMAN		14	1759	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	1	1	hg19	c.1713C>T	CCDS2793.1	1	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575995	0.03882	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.41	-2.14	0.07123	5.41	-2.14	0.07123	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-8.4843	1.608	0.02687	0.4586:0.119:0.2537:0.1686	.	.	.	.	C	310	.	.	R	-	1	0	0	USP4	49307014	49307014	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.785000	0.04628	-0.258000	0.09446	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.146287	1	0.170000	NM_199443			54	51		232	224	1		1	1		0	0	72	0		1	1	0	3	0	137	0	54	232
USP4	7375	broad.mit.edu	37	3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000265560.4	-	11	1386	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	USP4_ENST00000351842.4_Missense_Mutation_p.I400T|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	447	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468																																						ENST00000265560.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1339-1341)aTt>aCt		ubiquitin specific peptidase 4 (proto-oncogene)							98.0	80.0	87.0					3																	49338072		2203	4300	6503	SO:0001583	missense	7375	0	0					g.chr3:49338072A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1340T>C	chr3.hg19:g.49338072A>G	ENSP00000265560:p.Ile447Thr	0					USP4_ENST00000351842.4_Missense_Mutation_p.I400T|USP4_ENST00000488520.1_5'UTR	p.I447T	NM_003363.3	NP_003354.2	1	2	3	1.998468	Q13107	UBP4_HUMAN		11	1386	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	1	1	hg19	c.1340T>C	CCDS2793.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690655	0.88735	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.38240	1.15;1.15	5.93	5.93	0.95920	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.92784	3.345	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	0.77496	-0.2566	10	0.87932	D	0	-19.8798	15.2045	0.73169	1.0:0.0:0.0:0.0	.	400;447;447	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	T	400;447	ENSP00000341028:I400T;ENSP00000265560:I447T	ENSP00000265560:I447T	I	-	2	0	0	USP4	49313076	49313076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	2.261000	0.74972	0.459000	0.35465	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_199443			55	55		216	205	1		1	1		0	0	81	0		1	1	0	3	0	110	0	55	216
USP4	7375	broad.mit.edu	37	3	49348051	49348051	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000265560.4	-	8	1001		c.e8+1		USP4_ENST00000351842.4_Splice_Site|USP4_ENST00000488520.1_Splice_Site	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507																																						ENST00000265560.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.e8+1		ubiquitin specific peptidase 4 (proto-oncogene)							169.0	152.0	157.0					3																	49348051		2203	4300	6503	SO:0001630	splice_region_variant	7375	0	0					g.chr3:49348051A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.954+1T>C	chr3.hg19:g.49348051A>G		0					USP4_ENST00000351842.4_Splice_Site|USP4_ENST00000488520.1_Splice_Site		NM_003363.3	NP_003354.2	1	2	3	1.998468	Q13107	UBP4_HUMAN		8	1001	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Splice_Site	SNP	ENST00000265560.4	1	1	hg19		CCDS2793.1	1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869437	0.51588	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3007	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	USP4	49323055	49323055	1.000000	0.71417	0.992000	0.48379	0.384000	0.30261	9.100000	0.94213	2.059000	0.61396	0.402000	0.26972	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	0	0	1		15	2	2	1		1	1	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_199443	Intron		66	65		326	322	1		1	1		1	0	91	0		1	3.396459e-01	0	7	0	0	0	66	326
NICN1	84276	broad.mit.edu	37	3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	59						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517																																						ENST00000273598.3	1.000000	0.440000	9.900000e-01	5.800000e-01	0.750000	0.766309	0.750000	1.000000																										0				5						c.(175-177)aGc>aTc		nicolin 1							91.0	78.0	82.0					3																	49463818		2203	4300	6503	SO:0001583	missense	84276	0	0					g.chr3:49463818C>A	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.176G>T	chr3.hg19:g.49463818C>A	ENSP00000273598:p.Ser59Ile	0					NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR	p.S59I	NM_032316.3	NP_115692.1	1	2	3	1.998468	Q9BSH3	NICN1_HUMAN		2	262	-			Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	1	1	hg19	c.176G>T	CCDS2798.1	0	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114469	0.37339	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.08	2.15	0.27550	5.08	2.15	0.27550	.	0.164124	0.51477	D	0.000081	T	0.23572	0.0570	L	0.38175	1.15	0.36469	D	0.867172	B;B	0.17038	0.02;0.02	B;B	0.23574	0.047;0.031	T	0.16958	-1.0385	10	0.72032	D	0.01	-33.9236	15.564	0.76273	0.0:0.3431:0.6568:0.0	.	59;59	B4DX77;Q9BSH3	.;NICN1_HUMAN	I	59	ENSP00000273598:S59I;ENSP00000402335:S59I	ENSP00000273598:S59I	S	-	2	0	0	NICN1	49438822	49438822	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.786000	0.38694	0.124000	0.18369	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-18.384930	1	0.170000	NM_032316			15	14		226	220	0		1	0		0	0	70	0		9.998585e-01	1.399984e-01	0	0	0	10	0	15	226
DAG1	1605	broad.mit.edu	37	3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000539901.1	+	3	1681	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				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)			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)		GACTCGAGGCGCCATTATTCA	0.592																																						ENST00000539901.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1123-1125)Gcc>Acc		dystroglycan 1 (dystrophin-associated glycoprotein 1)							99.0	104.0	102.0					3																	49569067		2203	4300	6503	SO:0001583	missense	1605	1	121412	34				g.chr3:49569067G>A	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.1123G>A	chr3.hg19:g.49569067G>A	ENSP00000439334:p.Ala375Thr	0					DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T	p.A375T	NM_001177644.2	NP_001171115	1	2	3	1.998468	Q14118	DAG1_HUMAN		3	1681	+			A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	1	1	hg19	c.1123G>A	CCDS2799.1	1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651398	0.67472	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.152399	0.64402	D	0.000014	T	0.34687	0.0906	L	0.29908	0.895	0.36969	D	0.893748	P	0.36909	0.573	B	0.26693	0.072	T	0.32241	-0.9914	9	.	.	.	-29.9484	18.6912	0.91583	0.0:0.0:1.0:0.0	.	375	Q14118	DAG1_HUMAN	T	375	ENSP00000440705:A375T;ENSP00000312435:A375T;ENSP00000442600:A375T;ENSP00000440590:A375T;ENSP00000439334:A375T;ENSP00000438421:A375T	.	A	+	1	0	0	DAG1	49544071	49544071	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.646000	0.46630	2.702000	0.92279	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1	1	0	1		2	2	2	0		0	0	157		157	155	1	2.060000	-3.610519	1	0.170000				146	143		564	554	1		1	1		0	0	157	0		1	1	0	241	0	432	0	146	564
BSN	8927	broad.mit.edu	37	3	49680444	49680444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	459					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)			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)		AGACCATGCCGAAGGAAAGGG	0.587																																						ENST00000296452.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999540	0.990000	1.000000																										0				106						c.(1375-1377)ccG>ccA		bassoon presynaptic cytomatrix protein							62.0	53.0	56.0					3																	49680444		2203	4300	6503	SO:0001819	synonymous_variant	8927	5	121410	36				g.chr3:49680444G>A	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.1377G>A	chr3.hg19:g.49680444G>A		0					BSN-AS1_ENST00000442384.1_RNA	p.P459P	NM_003458.3	NP_003449.2	1	2	3	1.998468	Q9UPA5	BSN_HUMAN		3	1491	+			O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	1	1	hg19	c.1377G>A	CCDS2800.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1		2	2	2	0		0	0	47		47	44	1	2.060000	-20.000000	1	0.170000	NM_003458			28	26		179	176	1		1	0		0	0	47	0		1	0	0	0	0	1	0	28	179
BSN	8927	broad.mit.edu	37	3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1068					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)			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)		CAGCGCATCCGCAGCACGGCC	0.647																																						ENST00000296452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(3202-3204)cGc>cAc		bassoon presynaptic cytomatrix protein							33.0	38.0	36.0					3																	49690192		2203	4299	6502	SO:0001583	missense	8927	0	0					g.chr3:49690192G>A	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.3203G>A	chr3.hg19:g.49690192G>A	ENSP00000296452:p.Arg1068His	0						p.R1068H	NM_003458.3	NP_003449.2	1	2	3	1.998468	Q9UPA5	BSN_HUMAN		5	3317	+			O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	1	1	hg19	c.3203G>A	CCDS2800.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536312	0.45176	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.66939	2.045	0.37678	D	0.923388	D	0.89917	1.0	D	0.68621	0.959	T	0.56613	-0.7950	10	0.66056	D	0.02	.	15.2326	0.73404	0.0:0.1407:0.8593:0.0	.	1068	Q9UPA5	BSN_HUMAN	H	1068	ENSP00000296452:R1068H	ENSP00000296452:R1068H	R	+	2	0	0	BSN	49665196	49665196	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.773000	0.75006	2.357000	0.79964	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1		2	2	2	0		0	0	55		55	50	1	2.060000	-20.000000	1	0.170000	NM_003458			56	55		249	242	1		1			0	0	55	0		1	0	0	0	0	0	0	56	249
BSN	8927	broad.mit.edu	37	3	49690580	49690580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690580G>A	ENST00000296452.4	+	5	3705	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1197					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)			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)		AAGCTGAGCTGCTCCAGAGGC	0.672																																						ENST00000296452.4	1.000000	0.180000	6.300000e-01	2.800000e-01	0.420000	0.469798	0.420000	0.390000																										0				106						c.(3589-3591)ctG>ctA		bassoon presynaptic cytomatrix protein							19.0	20.0	20.0					3																	49690580		2203	4300	6503	SO:0001819	synonymous_variant	8927	0	0					g.chr3:49690580G>A	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.3591G>A	chr3.hg19:g.49690580G>A		0						p.L1197L	NM_003458.3	NP_003449.2	1	2	3	1.998468	Q9UPA5	BSN_HUMAN		5	3705	+			O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	0	1	hg19	c.3591G>A	CCDS2800.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	0	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-9.275877	1	0.170000	NM_003458			7	7		202	197	0		1			0	0	43	0		9.794234e-01	0	0	0	0	0	0	7	202
BSN	8927	broad.mit.edu	37	3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1692					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)			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)		TCTTGCTGTGGAAGCGAGGAA	0.587																																						ENST00000296452.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(5074-5076)Gaa>Aaa		bassoon presynaptic cytomatrix protein							103.0	96.0	98.0					3																	49692063		2203	4300	6503	SO:0001583	missense	8927	0	0					g.chr3:49692063G>A	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.5074G>A	chr3.hg19:g.49692063G>A	ENSP00000296452:p.Glu1692Lys	0						p.E1692K	NM_003458.3	NP_003449.2	1	2	3	1.998468	Q9UPA5	BSN_HUMAN		5	5188	+			O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	1	1	hg19	c.5074G>A	CCDS2800.1	1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602687	0.66445	.	.	ENSG00000164061	ENST00000296452	T	0.24350	1.86	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.051936	0.85682	D	0.000000	T	0.49355	0.1552	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.47812	-0.9088	10	0.54805	T	0.06	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	1692	Q9UPA5	BSN_HUMAN	K	1692	ENSP00000296452:E1692K	ENSP00000296452:E1692K	E	+	1	0	0	BSN	49667067	49667067	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.420000	0.82092	0.561000	0.74099	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_003458			98	96		352	345	1		1	0		0	0	85	0		1	0	0	0	0	1	0	98	352
BSN	8927	broad.mit.edu	37	3	49693296	49693296	+	Missense_Mutation	SNP	G	G	A	rs374754262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49693296G>A	ENST00000296452.4	+	5	6421	c.6307G>A	c.(6307-6309)Gct>Act	p.A2103T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2103					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)			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)		TCGCATGTGCGCTGCCCTCAA	0.652																																						ENST00000296452.4	1.000000	0.330000	7.100000e-01	4.200000e-01	0.540000	0.577649	0.540000	0.520000																										0				106						c.(6307-6309)Gct>Act		bassoon presynaptic cytomatrix protein							65.0	65.0	65.0					3																	49693296		2203	4300	6503	SO:0001583	missense	8927	0	0					g.chr3:49693296G>A	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.6307G>A	chr3.hg19:g.49693296G>A	ENSP00000296452:p.Ala2103Thr	0						p.A2103T	NM_003458.3	NP_003449.2	1	2	3	1.998468	Q9UPA5	BSN_HUMAN		5	6421	+			O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	0	1	hg19	c.6307G>A	CCDS2800.1	0	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031034	0.54790	.	.	ENSG00000164061	ENST00000296452	T	0.33865	1.39	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.59500	-0.7443	10	0.52906	T	0.07	-8.7787	19.3268	0.94265	0.0:0.0:1.0:0.0	.	2103	Q9UPA5	BSN_HUMAN	T	2103	ENSP00000296452:A2103T	ENSP00000296452:A2103T	A	+	1	0	0	BSN	49668300	49668300	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.855000	0.86950	2.561000	0.86390	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	0	0	1		19	2	2	1		1	1	71		71	68	1	2.060000	-18.282180	1	0.170000	NM_003458			18	17		382	375	0		0	0		1	0	71	0		4.717158e-01	0	0	0	0	1	0	18	382
APEH	327	broad.mit.edu	37	3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	255					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607																																						ENST00000296456.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(763-765)Gat>Aat		acylaminoacyl-peptide hydrolase							132.0	118.0	123.0					3																	49714060		2203	4300	6503	SO:0001583	missense	327	0	0					g.chr3:49714060G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.763G>A	chr3.hg19:g.49714060G>A	ENSP00000296456:p.Asp255Asn	0					APEH_ENST00000438011.1_Missense_Mutation_p.D255N	p.D255N	NM_001640.3	NP_001631.3	1	2	3	1.998468	P13798	ACPH_HUMAN		8	1163	+			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	1	1	hg19	c.763G>A	CCDS2801.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716078	0.89205	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;1.0	5.53	5.53	0.82687	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.041945	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58969	1.84	0.80722	D	1	D;P	0.59357	0.985;0.896	P;B	0.56088	0.791;0.334	T	0.56523	-0.7965	10	0.51188	T	0.08	-18.567	19.4536	0.94878	0.0:0.0:1.0:0.0	.	255;255	C9JIF9;P13798	.;ACPH_HUMAN	N	255;154;180;255;206	ENSP00000296456:D255N;ENSP00000414369:D154N;ENSP00000402365:D180N;ENSP00000415862:D255N;ENSP00000410366:D206N	ENSP00000296456:D255N	D	+	1	0	0	APEH	49689064	49689064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.618000	0.88619	0.585000	0.79938	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				54	53		194	188	1		1	1		0	0	31	0		1	1	0	176	0	258	0	54	194
RNF123	63891	broad.mit.edu	37	3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		GGCACCATCCGCTCTACCACA	0.552																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(373-375)cGc>cAc		ring finger protein 123							320.0	281.0	294.0					3																	49735349		2203	4300	6503	SO:0001583	missense	63891	1	121412	36				g.chr3:49735349G>A	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.374G>A	chr3.hg19:g.49735349G>A	ENSP00000328287:p.Arg125His	0					RNF123_ENST00000432042.1_5'UTR	p.R125H	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		6	518	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.374G>A	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64260	-0.09	5.95	5.08	0.68730	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	D	0.82797	0.5115	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87548	0.2463	10	0.87932	D	0	-26.426	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	125	Q5XPI4	RN123_HUMAN	H	125	ENSP00000328287:R125H	ENSP00000328287:R125H	R	+	2	0	0	RNF123	49710353	49710353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.235000	0.78143	1.536000	0.49237	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	0	1		15	2	2	1		1	1	357		357	354	1	2.060000	-20.000000	1	0.170000	NM_022064			284	279		1180	1154	1		1	1		1	0	357	0		1	9.998253e-01	0	17	0	36	0	284	1180
RNF123	63891	broad.mit.edu	37	3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	566					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		CTCTGCCCTGCGCTACTATTG	0.562																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999606	0.990000	1.000000																										0				38						c.(1696-1698)Cgc>Tgc		ring finger protein 123		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	298.0	257.0	271.0		1696	3.2	1.0	3	dbSNP_134	271	1,8599		0,1,4299	yes	missense	RNF123	NM_022064.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	566/1315	49740132	2,13004	2203	4300	6503	SO:0001583	missense	63891	6	121412	45				g.chr3:49740132C>T	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.1696C>T	chr3.hg19:g.49740132C>T	ENSP00000328287:p.Arg566Cys	0					RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	p.R566C	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		20	1840	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.1696C>T	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105078	0.77096	2.27E-4	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79352	-0.93;-1.26	5.2	3.19	0.36642	5.2	3.19	0.36642	.	0.000000	0.64402	D	0.000017	T	0.80082	0.4558	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.81854	-0.0741	10	0.87932	D	0	-24.0101	12.4462	0.55651	0.3556:0.6444:0.0:0.0	.	420;566	C9J266;Q5XPI4	.;RN123_HUMAN	C	566;566;420	ENSP00000328287:R566C;ENSP00000392443:R420C	ENSP00000328287:R566C	R	+	1	0	0	RNF123	49715136	49715136	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.330000	0.33781	2.441000	0.82636	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	297		297	295	1	2.060000	-20.000000	1	0.170000	NM_022064			159	156		1430	1405	1		1	1		0	0	297	0		1	9.878132e-01	0	6	0	56	0	159	1430
RNF123	63891	broad.mit.edu	37	3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	723					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		GTTGAAGGCAGCCACTGGAAT	0.642																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2167-2169)aGc>aTc		ring finger protein 123							33.0	35.0	35.0					3																	49742976		2203	4300	6503	SO:0001583	missense	63891	0	0					g.chr3:49742976G>T	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.2168G>T	chr3.hg19:g.49742976G>T	ENSP00000328287:p.Ser723Ile	0					RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	p.S723I	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		24	2312	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.2168G>T	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196140	0.38806	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77098	-0.75;-1.07	5.46	2.71	0.32032	5.46	2.71	0.32032	.	0.382752	0.28933	N	0.013663	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.41265	0.744;0.089	B;B	0.34038	0.174;0.037	T	0.49011	-0.8983	10	0.40728	T	0.16	-13.4445	5.2758	0.15649	0.3055:0.1404:0.5541:0.0	.	577;723	C9J266;Q5XPI4	.;RN123_HUMAN	I	723;723;577	ENSP00000328287:S723I;ENSP00000392443:S577I	ENSP00000328287:S723I	S	+	2	0	0	RNF123	49717980	49717980	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.783000	0.47766	0.678000	0.31325	-0.258000	0.10820	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_022064			48	47		219	214	1		1	1		0	0	47	0		1	9.972627e-01	0	8	0	36	0	48	219
RNF123	63891	broad.mit.edu	37	3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000433785.1_5'Flank|RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		GCGGACCATTGAGCACGGTGA	0.582																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2548-2550)Gag>Aag		ring finger protein 123							141.0	107.0	118.0					3																	49749963		2203	4300	6503	SO:0001583	missense	63891	0	0					g.chr3:49749963G>A	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.2548G>A	chr3.hg19:g.49749963G>A	ENSP00000328287:p.Glu850Lys	0					RNF123_ENST00000432042.1_Missense_Mutation_p.E704K|RNF123_ENST00000433785.1_5'Flank	p.E850K	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		27	2692	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.2548G>A	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457635	0.84317	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.047408	0.85682	D	0.000000	T	0.80829	0.4698	L	0.38531	1.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.75861	-0.3168	10	0.25106	T	0.35	-31.0211	19.2739	0.94023	0.0:0.0:1.0:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	K	850;850;704	ENSP00000328287:E850K;ENSP00000392443:E704K	ENSP00000328287:E850K	E	+	1	0	0	RNF123	49724967	49724967	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	9.298000	0.96132	2.803000	0.96430	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.599724	1	0.170000	NM_022064			59	59		231	222	1		1	1		0	0	56	0		1	9.999686e-01	0	13	0	50	0	59	231
RNF123	63891	broad.mit.edu	37	3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1028					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		GTGGCACCCAGCTTCCTCAAC	0.612																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3082-3084)aGc>aTc		ring finger protein 123							92.0	81.0	85.0					3																	49753080		2203	4300	6503	SO:0001583	missense	63891	0	0					g.chr3:49753080G>T	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.3083G>T	chr3.hg19:g.49753080G>T	ENSP00000328287:p.Ser1028Ile	0					RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	p.S1028I	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		32	3227	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.3083G>T	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299999	0.81136	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.082938	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68952	2.095	0.54753	D	0.999988	D	0.71674	0.998	D	0.75484	0.986	T	0.76966	-0.2763	10	0.45353	T	0.12	-32.0057	18.7944	0.91988	0.0:0.0:1.0:0.0	.	1028	Q5XPI4	RN123_HUMAN	I	1028;1028;140	ENSP00000328287:S1028I;ENSP00000416156:S140I	ENSP00000328287:S1028I	S	+	2	0	0	RNF123	49728084	49728084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.679000	0.91253	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_022064			47	46		214	210	1		1	1		0	0	47	0		1	9.999831e-01	0	18	0	60	0	47	214
RNF123	63891	broad.mit.edu	37	3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1131					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		CCTGTTTGATCGTGTGGTCAC	0.582																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				38						c.(3391-3393)Cgt>Tgt		ring finger protein 123							94.0	80.0	85.0					3																	49753586		2203	4300	6503	SO:0001583	missense	63891	0	0					g.chr3:49753586C>T	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.3391C>T	chr3.hg19:g.49753586C>T	ENSP00000328287:p.Arg1131Cys	0					RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	p.R1131C	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		34	3535	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	1	hg19	c.3391C>T	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936114	0.73442	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73152	-0.72	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74665	-0.3589	10	0.41790	T	0.15	-12.8022	13.0939	0.59180	0.2497:0.7503:0.0:0.0	.	1131	Q5XPI4	RN123_HUMAN	C	1131;1131;243	ENSP00000328287:R1131C	ENSP00000328287:R1131C	R	+	1	0	0	RNF123	49728590	49728590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	2.884000	0.98904	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_022064			26	25		120	118	1		1	1		0	0	32	0		1	9.999628e-01	0	22	0	58	0	26	120
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	C	T	rs377690361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		GCCTAGAGAGCGTGGACCACT	0.632																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3424-3426)agC>agT		ring finger protein 123		C		2,4404	4.2+/-10.8	0,2,2201	247.0	249.0	248.0		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63891	4	121410	43				g.chr3:49753836C>T	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.3426C>T	chr3.hg19:g.49753836C>T		0					RNF123_ENST00000433785.1_Silent_p.S254S	p.S1142S	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		35	3570	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	1	1	hg19	c.3426C>T	CCDS33758.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	344		344	341	1	2.060000	-20.000000	1	0.170000	NM_022064			267	260		1291	1270	0		1	1		0	0	344	0		1	9.999677e-01	0	18	0	52	0	267	1291
RNF123	63891	broad.mit.edu	37	3	49757969	49757969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000327697.6	+	36	3670	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000497099.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1176					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		ATCAGTGCTCCTGGCAGATCC	0.597																																						ENST00000327697.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3526-3528)Ctg>Atg		ring finger protein 123							50.0	41.0	44.0					3																	49757969		2203	4300	6503	SO:0001583	missense	63891	0	0					g.chr3:49757969C>A	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.3526C>A	chr3.hg19:g.49757969C>A	ENSP00000328287:p.Leu1176Met	0					GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|AMIGO3_ENST00000320431.7_5'Flank	p.L1176M	NM_022064.3	NP_071347.2	1	2	3	1.998468	Q5XPI4	RN123_HUMAN		36	3670	+			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	1	0	hg19	c.3526C>A	CCDS33758.1	1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331587	0.60853	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76448	-1.02	4.97	3.03	0.35002	4.97	3.03	0.35002	.	0.000000	0.64402	D	0.000008	D	0.82379	0.5024	L	0.55990	1.75	0.47183	D	0.999348	D	0.71674	0.998	D	0.80764	0.994	T	0.82000	-0.0674	10	0.62326	D	0.03	-13.6696	8.1277	0.31008	0.0:0.735:0.0:0.265	.	1176	Q5XPI4	RN123_HUMAN	M	1176;1176;288	ENSP00000328287:L1176M	ENSP00000328287:L1176M	L	+	1	2	2	RNF123	49732973	49732973	0.922000	0.31269	1.000000	0.80357	0.969000	0.65631	1.594000	0.36697	1.331000	0.45412	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_022064			58	56		240	235	1		1	1		0	0	68	0		1	1	0	31	0	107	0	58	240
IP6K1	9807	broad.mit.edu	37	3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000321599.4	-	6	1287	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	329					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592																																						ENST00000321599.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(985-987)cGc>cAc		inositol hexakisphosphate kinase 1							46.0	48.0	48.0					3																	49764895		2203	4300	6503	SO:0001583	missense	9807	0	0					g.chr3:49764895C>T	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.986G>A	chr3.hg19:g.49764895C>T	ENSP00000323780:p.Arg329His	0					IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H	p.R329H	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	1	2	3	1.998468	Q92551	IP6K1_HUMAN		6	1287	-			A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	1	1	hg19	c.986G>A	CCDS33760.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.420960	0.96111	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.54805	T	0.06	-24.2595	20.0953	0.97838	0.0:1.0:0.0:0.0	.	329	Q92551	IP6K1_HUMAN	H	329;164;164	ENSP00000323780:R329H;ENSP00000378659:R164H;ENSP00000420762:R164H	ENSP00000323780:R329H	R	-	2	0	0	IP6K1	49739899	49739899	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.170149	1	0.170000	NM_153273			60	60		273	269	1		1	1		0	0	71	0		1	9.999996e-01	0	34	0	66	0	60	273
UBA7	7318	broad.mit.edu	37	3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	844					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612																																						ENST00000333486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2530-2532)cGa>cAa		ubiquitin-like modifier activating enzyme 7							74.0	69.0	71.0					3																	49845353		2203	4300	6503	SO:0001583	missense	7318	1	121412	31				g.chr3:49845353C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2531G>A	chr3.hg19:g.49845353C>T	ENSP00000333266:p.Arg844Gln	0					MIR5193_ENST00000584510.1_RNA	p.R844Q	NM_003335.2	NP_003326.2	1	2	3	1.998468	P41226	UBA7_HUMAN		21	2689	-			Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	1	1	hg19	c.2531G>A	CCDS2805.1	1	.	.	.	.	.	.	.	.	.	.	C	5.302	0.241135	0.10077	.	.	ENSG00000182179	ENST00000333486	T	0.38401	1.14	4.95	-3.92	0.04155	4.95	-3.92	0.04155	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.538297	0.19794	N	0.105901	T	0.14056	0.0340	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.10823	-1.0613	10	0.27082	T	0.32	0.055	4.8416	0.13492	0.2254:0.3499:0.0:0.4248	.	844	P41226	UBA7_HUMAN	Q	844	ENSP00000333266:R844Q	ENSP00000333266:R844Q	R	-	2	0	0	UBA7	49820357	49820357	0.009000	0.17119	0.003000	0.11579	0.278000	0.26855	-0.110000	0.10824	-0.715000	0.04968	-0.268000	0.10319	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003335			46	46		169	163	1		1	1		0	0	50	0		1	1	0	55	0	182	0	46	169
UBA7	7318	broad.mit.edu	37	3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	684					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567																																						ENST00000333486.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2050-2052)gGc>gTc		ubiquitin-like modifier activating enzyme 7							129.0	133.0	131.0					3																	49847012		2203	4300	6503	SO:0001583	missense	7318	0	0					g.chr3:49847012C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2051G>T	chr3.hg19:g.49847012C>A	ENSP00000333266:p.Gly684Val	0					UBA7_ENST00000494212.1_5'Flank	p.G684V	NM_003335.2	NP_003326.2	1	2	3	1.998468	P41226	UBA7_HUMAN		16	2209	-			Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	1	1	hg19	c.2051G>T	CCDS2805.1	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984739	0.35036	.	.	ENSG00000182179	ENST00000333486	T	0.62788	-0.0	5.92	4.0	0.46444	5.92	4.0	0.46444	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.745824	0.14247	N	0.331665	T	0.52008	0.1708	L	0.50333	1.59	0.46279	D	0.998968	B	0.19706	0.038	B	0.23275	0.045	T	0.42310	-0.9459	10	0.31617	T	0.26	-2.5993	4.8671	0.13613	0.0:0.5587:0.1533:0.2879	.	684	P41226	UBA7_HUMAN	V	684	ENSP00000333266:G684V	ENSP00000333266:G684V	G	-	2	0	0	UBA7	49822016	49822016	0.116000	0.22171	0.522000	0.27862	0.938000	0.57974	0.364000	0.20325	0.694000	0.31654	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1		2	2	2	0		0	0	242		242	241	1	2.060000	-20.000000	1	0.170000	NM_003335			201	198		888	873	1		1	1		0	0	242	0		1	1	0	34	0	158	0	201	888
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582																																						ENST00000333486.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999783	0.990000	1.000000																										0				33						c.(1846-1848)cGg>cAg		ubiquitin-like modifier activating enzyme 7							91.0	97.0	95.0					3																	49847305		2203	4300	6503	SO:0001583	missense	7318	6	121412	40				g.chr3:49847305C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	chr3.hg19:g.49847305C>T	ENSP00000333266:p.Arg616Gln	0					UBA7_ENST00000494212.1_5'Flank	p.R616Q	NM_003335.2	NP_003326.2	1	2	3	1.998468	P41226	UBA7_HUMAN		15	2005	-			Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	1	1	hg19	c.1847G>A	CCDS2805.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	0	UBA7	49822309	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-3.017764	1	0.170000	NM_003335			68	66		525	515	1		1	1		0	0	147	0		1	9.999844e-01	0	17	0	106	0	68	525
UBA7	7318	broad.mit.edu	37	3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	152	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602																																						ENST00000333486.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				33						c.(454-456)Cgg>Tgg		ubiquitin-like modifier activating enzyme 7		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	53.0	54.0		454	2.1	1.0	3	dbSNP_134	54	0,8600		0,0,4300	yes	missense	UBA7	NM_003335.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	152/1013	49850508	1,13005	2203	4300	6503	SO:0001583	missense	7318	2	121412	36				g.chr3:49850508G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.454C>T	chr3.hg19:g.49850508G>A	ENSP00000333266:p.Arg152Trp	0					UBA7_ENST00000494212.1_5'UTR	p.R152W	NM_003335.2	NP_003326.2	1	2	3	1.998468	P41226	UBA7_HUMAN		4	612	-			Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	1	1	hg19	c.454C>T	CCDS2805.1	1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943843	0.18281	2.27E-4	0.0	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.04	2.09	0.27110	5.04	2.09	0.27110	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.323101	0.31949	N	0.006812	T	0.25269	0.0614	L	0.50333	1.59	0.49798	D	0.999828	B	0.32507	0.373	B	0.25614	0.062	T	0.06499	-1.0823	10	0.51188	T	0.08	-17.4254	4.8768	0.13660	0.1784:0.0:0.5355:0.2861	.	152	P41226	UBA7_HUMAN	W	152	ENSP00000333266:R152W	ENSP00000333266:R152W	R	-	1	2	2	UBA7	49825512	49825512	0.003000	0.15002	0.964000	0.40570	0.036000	0.12997	0.691000	0.25467	0.648000	0.30732	-0.448000	0.05591	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-2.868172	1	0.170000	NM_003335			31	30		169	167	1		1	1		0	0	44	0		1	9.999896e-01	0	12	0	90	0	31	169
TRAIP	10293	broad.mit.edu	37	3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	48					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488																																						ENST00000331456.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(142-144)cAg>cGg		TRAF interacting protein							99.0	85.0	90.0					3																	49885589		2203	4300	6503	SO:0001583	missense	10293	0	0					g.chr3:49885589T>C	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.143A>G	chr3.hg19:g.49885589T>C	ENSP00000328203:p.Gln48Arg	0					TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	p.Q48R	NM_005879.2	NP_005870.2	1	2	3	1.998468	Q9BWF2	TRAIP_HUMAN		2	256	-			B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	1	1	hg19	c.143A>G	CCDS2806.1	1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664004	0.67700	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	5.65	0.86999	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.67397	2.05	0.48452	D	0.99965	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.83275	0.932;0.996;0.979	T	0.58261	-0.7667	10	0.26408	T	0.33	-18.7394	15.0639	0.71977	0.0:0.0:0.0:1.0	.	48;48;48	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	R	48	ENSP00000328203:Q48R;ENSP00000420085:Q48R;ENSP00000418544:Q48R;ENSP00000419350:Q48R	ENSP00000328203:Q48R	Q	-	2	0	0	TRAIP	49860593	49860593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.837000	0.75354	2.152000	0.67230	0.533000	0.62120	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_005879			44	43		146	142	1		1	0		0	0	35	0		1	5.884750e-01	0	1	0	7	0	44	146
MST1R	4486	broad.mit.edu	37	3	49924980	49924980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49924980C>T	ENST00000296474.3	-	20	3990	c.3963G>A	c.(3961-3963)caG>caA	p.Q1321Q	MST1R_ENST00000344206.4_Silent_p.Q1272Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCAGCATTGCTGCATCACTT	0.557																																						ENST00000296474.3	1.000000	0.220000	5.600000e-01	3.100000e-01	0.410000	0.454052	0.410000	0.390000																										0				37						c.(3961-3963)caG>caA		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							74.0	71.0	72.0					3																	49924980		2203	4300	6503	SO:0001819	synonymous_variant	4486	0	0					g.chr3:49924980C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3963G>A	chr3.hg19:g.49924980C>T		0					MST1R_ENST00000344206.4_Silent_p.Q1272Q	p.Q1321Q	NM_002447.2	NP_002438	1	2	3	1.998468	Q04912	RON_HUMAN		20	3990	-			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	1	1	hg19	c.3963G>A	CCDS2807.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-12.683980	1	0.170000				13	13		373	365	0		1	1		0	0	75	0		9.994860e-01	9.854023e-01	0	7	0	197	0	13	373
MST1R	4486	broad.mit.edu	37	3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	rs150876558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16420	0.0		0.001	False		,,,				2504	0.0					ENST00000296474.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3322-3324)Cga>Tga		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)		G	stop/ARG	1,4405		0,1,2202	243.0	211.0	222.0		3322	4.6	0.8	3	dbSNP_134	222	3,8597		0,3,4297	yes	stop-gained	MST1R	NM_002447.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1108/1401	49929221	4,13002	2203	4300	6503	SO:0001587	stop_gained	4486	12	121412	47				g.chr3:49929221G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3322C>T	chr3.hg19:g.49929221G>A	ENSP00000296474:p.Arg1108*	0					MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	p.R1108*	NM_002447.2	NP_002438	1	2	3	1.998468	Q04912	RON_HUMAN		15	3349	-			B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	0	1	hg19	c.3322C>T	CCDS2807.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	38	7.213134	0.98139	2.27E-4	3.49E-4	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.48	4.6	0.57074	5.48	4.6	0.57074	.	0.783895	0.12392	N	0.472947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.1745	4.2179	0.10544	0.0832:0.2301:0.5395:0.1471	.	.	.	.	X	1108;1059	.	ENSP00000296474:R1108X	R	-	1	2	2	MST1R	49904225	49904225	0.869000	0.29996	0.798000	0.32154	0.961000	0.63080	2.280000	0.43443	2.617000	0.88574	0.632000	0.83419	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-20.000000	1	0.170000				157	155		655	645	1		1	1		0	0	149	0		1	1	0	38	0	133	0	157	655
MST1R	4486	broad.mit.edu	37	3	49934771	49934771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	709	IPT/TIG 2.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592																																						ENST00000296474.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2125-2127)Ctg>Ttg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							75.0	70.0	72.0					3																	49934771		2203	4300	6503	SO:0001819	synonymous_variant	4486	0	0					g.chr3:49934771G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2125C>T	chr3.hg19:g.49934771G>A		0					MST1R_ENST00000344206.4_Silent_p.L709L|CTD-2330K9.2_ENST00000435478.1_RNA	p.L709L	NM_002447.2	NP_002438	1	2	3	1.998468	Q04912	RON_HUMAN		7	2152	-			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	1	1	hg19	c.2125C>T	CCDS2807.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1		2	2	2	0		0	0	81		81	78	1	2.060000	-20.000000	1	0.170000				62	60		310	309	0		1	1		0	0	81	0		1	9.999999e-01	0	77	0	45	0	62	310
MST1R	4486	broad.mit.edu	37	3	49940299	49940299	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572																																						ENST00000296474.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(742-744)gaA>gaG		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							63.0	58.0	60.0					3																	49940299		2203	4300	6503	SO:0001819	synonymous_variant	4486	0	0					g.chr3:49940299T>C	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.744A>G	chr3.hg19:g.49940299T>C		0					MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	p.E248E	NM_002447.2	NP_002438	1	2	3	1.998468	Q04912	RON_HUMAN		1	771	-			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	1	1	hg19	c.744A>G	CCDS2807.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				55	54		267	261	1		1	1		0	0	81	0		1	9.999885e-01	0	15	0	69	0	55	267
MST1R	4486	broad.mit.edu	37	3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	115	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677																																						ENST00000296474.3	1.000000	0.410000	7.500000e-01	5.000000e-01	0.610000	0.638166	0.610000	0.600000																										0				37						c.(343-345)Ccc>Tcc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							55.0	61.0	59.0					3																	49940700		2203	4299	6502	SO:0001583	missense	4486	0	0					g.chr3:49940700G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.343C>T	chr3.hg19:g.49940700G>A	ENSP00000296474:p.Pro115Ser	0					MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	p.P115S	NM_002447.2	NP_002438	1	2	3	1.998468	Q04912	RON_HUMAN		1	370	-			B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	1	1	hg19	c.343C>T	CCDS2807.1	0	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278775	0.05679	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.96	-0.793	0.10922	4.96	-0.793	0.10922	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.970223	0.08471	N	0.940952	T	0.09024	0.0223	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B	0.31910	0.199;0.008;0.346;0.02;0.001	B;B;B;B;B	0.36244	0.098;0.011;0.22;0.045;0.011	T	0.44982	-0.9292	10	0.23891	T	0.37	-7.214	9.4743	0.38862	0.1899:0.3107:0.4994:0.0	.	115;115;115;115;115	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	S	115	ENSP00000296474:P115S;ENSP00000341325:P115S	ENSP00000296474:P115S	P	-	1	0	0	MST1R	49915704	49915704	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.556000	0.23438	-0.120000	0.11809	-1.598000	0.00824	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-3.076027	1	0.170000				30	29		558	547	1		1	1		0	0	112	0		1	9.420070e-01	0	10	0	80	0	30	558
SEMA3F	6405	broad.mit.edu	37	3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	510	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627																																						ENST00000002829.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				17						c.(1528-1530)Gag>Aag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							126.0	104.0	112.0					3																	50222947		2203	4300	6503	SO:0001583	missense	6405	0	0					g.chr3:50222947G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1528G>A	chr3.hg19:g.50222947G>A	ENSP00000002829:p.Glu510Lys	0					SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	p.E510K	NM_004186.3	NP_004177.3	1	2	3	1.998468	Q13275	SEM3F_HUMAN		14	2012	+			C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	1	1	hg19	c.1528G>A	CCDS2811.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213343	0.79352	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.29917	1.55;1.55;1.55	4.92	4.92	0.64577	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043661	0.85682	D	0.000000	T	0.51193	0.1660	H	0.96547	3.84	0.58432	D	0.999998	P;B	0.36660	0.564;0.148	B;B	0.35688	0.208;0.133	T	0.68051	-0.5511	10	0.87932	D	0	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	479;510	C9JQ85;Q13275	.;SEM3F_HUMAN	K	411;510;479	ENSP00000388931:E411K;ENSP00000002829:E510K;ENSP00000409859:E479K	ENSP00000002829:E510K	E	+	1	0	0	SEMA3F	50197951	50197951	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.395000	0.97266	2.575000	0.86900	0.448000	0.29417	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_004186			28	28		122	120	1		1	1		0	0	40	0		1	9.999779e-01	0	6	0	73	0	28	122
GNAT1	2779	broad.mit.edu	37	3	50230697	50230697	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000433068.1	+	3	205		c.e3-1		GNAT1_ENST00000232461.3_Splice_Site	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433068.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e3-1		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							98.0	92.0	94.0					3																	50230697		2203	4300	6503	SO:0001630	splice_region_variant	2779	0	0					g.chr3:50230697G>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.150-1G>T	chr3.hg19:g.50230697G>T		0		OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_ENST00000232461.3_Splice_Site		NM_000172.3	NP_000163.2	1	2	3	1.998468	P11488	GNAT1_HUMAN		3	205	+			Q4VBN2	Splice_Site	SNP	ENST00000433068.1	1	1	hg19		CCDS2812.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043107	0.75732	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GNAT1	50205701	50205701	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.668000	0.98619	2.573000	0.86826	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-3.159081	1	0.170000	NM_000172	Intron		70	69		354	347	1		1			0	0	115	0		1	0	0	0	0	0	0	70	354
SLC38A3	10991	broad.mit.edu	37	3	50255260	50255260	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	ENST00000420502.1	+	0	996									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)		GCTACTTCACGCTCAACTCAC	0.592																																						ENST00000420502.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6								solute carrier family 38, member 3							85.0	91.0	89.0					3																	50255260		2126	4234	6360			10991	0	0					g.chr3:50255260G>A	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		chr3.hg19:g.50255260G>A		0									1	2	3	1.998468				0	996	+				RNA	SNP	ENST00000420502.1	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	0	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-3.694968	1	0.170000	NM_006841			93	92		356	348	0		1	0		0	0	106	0		1	7.444928e-01	0	0	0	12	0	93	356
GNAI2	2771	broad.mit.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A	rs368004918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637																																						ENST00000313601.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A114T(2)	ovary(1)|prostate(1)	16						c.(340-342)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	121.0	110.0	113.0		229,340	5.3	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAI2	NM_001166425.1,NM_002070.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	77/319,114/356	50290492	1,13005	2203	4300	6503	SO:0001583	missense	2771	5	121408	43				g.chr3:50290492G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.340G>A	chr3.hg19:g.50290492G>A	ENSP00000312999:p.Ala114Thr	0					GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T	p.A114T	NM_002070.2	NP_002061.1	1	2	3	1.998468	P04899	GNAI2_HUMAN		4	724	+			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	1	1	hg19	c.340G>A	CCDS2813.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	0	GNAI2	50265496	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	1	0	1		2	2	2	0		0	0	171		171	169	1	2.060000	-20.000000	1	0.170000	NM_002070			135	133		764	755	1		1	1		0	0	171	0		1	1	0	165	0	1142	0	135	764
SEMA3B	7869	broad.mit.edu	37	3	50313010	50313010	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	ENST00000418948.1	+	0	1903							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGCAAGACGTAAGGAATGG	0.662																																						ENST00000418948.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							65.0	79.0	75.0					3																	50313010		2028	4176	6204			7869	0	0					g.chr3:50313010G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		chr3.hg19:g.50313010G>A		0									1	2	3	1.998468	Q13214	SEM3B_HUMAN		0	1903	+			Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	0	1	hg19			1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628796	0.28978	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.78	-0.282	0.12878	4.78	-0.282	0.12878	.	0.193005	0.44285	N	0.000473	T	0.24314	0.0589	.	.	.	.	.	.	B;B;B;B	0.18166	0.018;0.026;0.018;0.012	B;B;B;B	0.23150	0.011;0.044;0.011;0.012	T	0.35201	-0.9798	7	0.08837	T	0.75	.	8.4845	0.33063	0.4372:0.0:0.5628:0.0	.	556;306;556;557	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	I	556	.	ENSP00000446262:V556I	V	+	1	0	0	SEMA3B	50288014	50288014	0.465000	0.25815	0.103000	0.21229	0.987000	0.75469	0.713000	0.25794	-0.291000	0.09012	0.514000	0.50259	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	0	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_001005914			90	90		494	488	0		1	1		0	0	121	0		1	1	0	73	0	92	0	90	494
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|NAT6_ENST00000354862.4_5'Flank|NAT6_ENST00000443094.2_5'Flank|NAT6_ENST00000443842.1_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGCTCTTCCGCTCACACCAC	0.552																																						ENST00000266031.4	1.000000	0.240000	5.800000e-01	3.200000e-01	0.430000	0.467818	0.430000	0.410000																										0				11						c.(1291-1293)Cgg>Tgg		hyaluronoglucosaminidase 1							93.0	95.0	95.0					3																	50337931		2203	4300	6503	SO:0001583	missense	3373	4	121412	40				g.chr3:50337931G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	chr3.hg19:g.50337931G>A	ENSP00000266031:p.Arg431Trp	0					NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL3_ENST00000415204.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W	p.R431W			1	2	3	1.998468	Q12794	HYAL1_HUMAN		3	1906	-			Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	1	1	hg19	c.1291C>T	CCDS2816.1	0	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	2	HYAL1	50312935	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.307751	1	0.170000				14	14		386	378	1		1	1		0	0	101	0		9.997289e-01	9.754521e-01	0	27	0	144	0	14	386
HYAL1	3373	broad.mit.edu	37	3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000447605.2_Intron|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|NAT6_ENST00000354862.4_5'Flank|NAT6_ENST00000443094.2_5'Flank|NAT6_ENST00000443842.1_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	239					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGGCACGGCTCTGGCCCCA	0.587																																						ENST00000266031.4	1.000000	0.620000	1	7.800000e-01	0.980000	0.916386	0.980000	1.000000																										0				11						c.(715-717)aGc>aTc		hyaluronoglucosaminidase 1							53.0	48.0	50.0					3																	50339672		2203	4300	6503	SO:0001583	missense	3373	0	0					g.chr3:50339672C>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.716G>T	chr3.hg19:g.50339672C>A	ENSP00000266031:p.Ser239Ile	0					NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I	p.S239I			1	2	3	1.998468	Q12794	HYAL1_HUMAN		1	1331	-			Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	1	1	hg19	c.716G>T	CCDS2816.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.46	5.46	0.80206	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.079607	0.85682	D	0.000000	T	0.67325	0.2881	M	0.94021	3.485	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	0.76680	-0.2870	10	0.87932	D	0	-32.4736	17.8882	0.88863	0.0:1.0:0.0:0.0	.	239;239;239	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	I	239;239;239;239;57	ENSP00000378576:S239I;ENSP00000266031:S239I;ENSP00000346068:S239I;ENSP00000378575:S239I;ENSP00000393358:S57I	ENSP00000266031:S239I	S	-	2	0	0	HYAL1	50314676	50314676	1.000000	0.71417	0.894000	0.35097	0.412000	0.31113	3.976000	0.56867	2.585000	0.87301	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1	1	0	1		17	2	2	0		0	1	51		51	50	1	2.060000	-20.000000	1	0.170000				21	20		237	236	1		1	1		0	0	51	0		7.895325e-01	9.983945e-01	0	22	0	96	0	21	237
HYAL2	8692	broad.mit.edu	37	3	50357048	50357048	+	Silent	SNP	G	G	A	rs373921434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000357750.4_Silent_p.Y291Y|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	291					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGTGAAGACGTAGACTGGGA	0.592																																						ENST00000447092.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(871-873)taC>taT		hyaluronoglucosaminidase 2		G	,	2,4404	4.2+/-10.8	0,2,2201	49.0	50.0	49.0		873,873	-6.2	0.6	3		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HYAL2	NM_003773.4,NM_033158.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	291/474,291/474	50357048	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8692	1	121388	29				g.chr3:50357048G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.873C>T	chr3.hg19:g.50357048G>A		0					HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y|TUSC2_ENST00000462137.1_5'Flank	p.Y291Y			1	2	3	1.998468	Q12891	HYAL2_HUMAN		1	3165	-			B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	1	1	hg19	c.873C>T	CCDS2818.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003773			33	33		132	129	0		1	1		0	0	33	0		1	1	0	106	0	492	0	33	132
ZMYND10	51364	broad.mit.edu	37	3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A	rs371047847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZMYND10_ENST00000490675.1_Intron|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	293					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612										TSP Lung(30;0.18)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		17563	0.0		0.0	False		,,,				2504	0.0					ENST00000231749.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(877-879)Cgg>Tgg		zinc finger, MYND-type containing 10							67.0	67.0	67.0					3																	50379568		2203	4300	6503	SO:0001583	missense	51364	4	121412	37				g.chr3:50379568G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.877C>T	chr3.hg19:g.50379568G>A	ENSP00000231749:p.Arg293Trp	0	TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|ZMYND10_ENST00000490675.1_Intron|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000359365.4_5'Flank	p.R293W	NM_015896.2	NP_056980.2	1	2	3	1.998468	O75800	ZMY10_HUMAN		9	2149	-			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	1	1	hg19	c.877C>T	CCDS2825.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721875	0.68959	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.31	3.41	0.39046	5.31	3.41	0.39046	.	0.107154	0.64402	D	0.000005	T	0.76912	0.4054	M	0.86178	2.8	0.32311	N	0.563782	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.909	D	0.83569	0.0111	9	0.87932	D	0	-9.3558	13.8817	0.63686	0.0:0.0:0.7216:0.2784	.	288;293	O75800-2;O75800	.;ZMY10_HUMAN	W	293;288;250	.	ENSP00000231749:R293W	R	-	1	2	2	ZMYND10	50354572	50354572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.512000	0.45485	0.536000	0.28733	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	1	0	1		2	2	2	0		0	0	85		85	82	1	2.060000	-3.078434	1	0.170000	NM_015896			66	66		367	355	1		1	0		0	0	85	0		1	2.402193e-02	0	0	0	2	0	66	367
NPRL2	10641	broad.mit.edu	37	3	50385985	50385985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000232508.5_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582																																						ENST00000232501.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(691-693)ggC>ggT		nitrogen permease regulator-like 2 (S. cerevisiae)							146.0	128.0	134.0					3																	50385985		2203	4300	6503	SO:0001819	synonymous_variant	10641	0	0					g.chr3:50385985G>A	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.693C>T	chr3.hg19:g.50385985G>A		0					ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank	p.G231G	NM_006545.4	NP_006536.3	1	2	3	1.998468	Q8WTW4	NPRL2_HUMAN		7	1131	-			A8K831|Q6FGS2|Q9Y249|Q9Y497	Silent	SNP	ENST00000232501.3	1	1	hg19	c.693C>T	CCDS2826.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	1	0	0		2	2	2	0		0	0	87		87	84	1	2.060000	-20.000000	1	0.170000	NM_006545			68	67		256	255	1		1	1		0	0	87	0		1	9.999776e-01	0	18	0	44	0	68	256
NPRL2	10641	broad.mit.edu	37	3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000232508.5_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	229					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582																																						ENST00000232501.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(685-687)taC>taA		nitrogen permease regulator-like 2 (S. cerevisiae)							151.0	131.0	138.0					3																	50385991		2203	4300	6503	SO:0001587	stop_gained	10641	0	0					g.chr3:50385991G>T	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.687C>A	chr3.hg19:g.50385991G>T	ENSP00000232501:p.Tyr229*	0					ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank	p.Y229*	NM_006545.4	NP_006536.3	1	2	3	1.998468	Q8WTW4	NPRL2_HUMAN		7	1125	-			A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	0	1	hg19	c.687C>A	CCDS2826.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.645978	0.97730	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	2.81	0.32909	5.65	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9752	10.0896	0.42439	0.2228:0.0:0.7772:0.0	.	.	.	.	X	229	.	ENSP00000232501:Y229X	Y	-	3	2	2	NPRL2	50360995	50360995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.347000	0.52200	0.285000	0.22329	0.655000	0.94253	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	0	0	0		15	5	2	1		1	1	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_006545			59	59		268	265	1		1	0		1	0	81	0		1	9.895825e-01	0	4	0	59	0	59	268
HEMK1	51409	broad.mit.edu	37	3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|C3orf18_ENST00000449241.1_5'Flank	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	3					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612																																						ENST00000232854.4	1.000000	0.600000	1	7.300000e-01	0.890000	0.874496	0.890000	1.000000																										0				3						c.(7-9)Ctt>Att		HemK methyltransferase family member 1							39.0	46.0	44.0					3																	50608542		2203	4300	6503	SO:0001583	missense	51409	0	0					g.chr3:50608542C>A	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.7C>A	chr3.hg19:g.50608542C>A	ENSP00000232854:p.Leu3Ile	0					C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I	p.L3I	NM_016173.3	NP_057257.1	1	2	3	1.998468	Q9Y5R4	HEMK1_HUMAN		2	559	+				Missense_Mutation	SNP	ENST00000232854.4	1	1	hg19	c.7C>A	CCDS2830.1	1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452860	0.43531	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.19806	2.12;2.12;2.12	5.41	3.55	0.40652	5.41	3.55	0.40652	.	0.555495	0.16504	N	0.211525	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.27297	-1.0078	10	0.33940	T	0.23	-0.1948	9.0888	0.36598	0.0:0.8172:0.0:0.1828	.	3	Q9Y5R4	HEMK1_HUMAN	I	3	ENSP00000404843:L3I;ENSP00000232854:L3I;ENSP00000404334:L3I	ENSP00000232854:L3I	L	+	1	0	0	HEMK1	50583546	50583546	0.001000	0.12720	0.005000	0.12908	0.211000	0.24417	0.129000	0.15830	0.599000	0.29845	0.561000	0.74099	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_016173			27	27		337	330	1		1	1		0	0	72	0		1	9.434896e-01	0	9	0	53	0	27	337
MAPKAPK3	7867	broad.mit.edu	37	3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	342	Autoinhibitory helix. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|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)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557																																						ENST00000446044.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.M342I(1)	endometrium(1)	2						c.(1024-1026)atG>atA		mitogen-activated protein kinase-activated protein kinase 3							113.0	109.0	111.0					3																	50685354		2203	4300	6503	SO:0001583	missense	7867	0	0					g.chr3:50685354G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1026G>A	chr3.hg19:g.50685354G>A	ENSP00000396467:p.Met342Ile	0					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	p.M342I	NM_001243926.1	NP_001230855.1	1	2	3	1.998468	Q16644	MAPK3_HUMAN		13	1622	+			B5BU67	Missense_Mutation	SNP	ENST00000446044.1	1	1	hg19	c.1026G>A	CCDS2832.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.978411|3.978411	0.74360|0.74360	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000451680|ENST00000446044;ENST00000357955	.|T;T	.|0.47869	.|0.83;0.83	5.88|5.88	4.99|4.99	0.66335|0.66335	5.88|5.88	4.99|4.99	0.66335|0.66335	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45538|0.45538	0.1347|0.1347	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P	.|0.34629	.|0.46	.|B	.|0.28709	.|0.093	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.13853	.|T	.|0.58	-32.8874|-32.8874	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.863:0.137|0.0:0.0:0.863:0.137	.|.	.|342	.|Q16644	.|MAPK3_HUMAN	T|I	57|342	.|ENSP00000396467:M342I;ENSP00000350639:M342I	.|ENSP00000350639:M342I	A|M	+|+	1|3	0|0	0|0	MAPKAPK3|MAPKAPK3	50660358|50660358	50660358|50660358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.916000|7.916000	0.87491|0.87491	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	NM_004635			87	86		430	423	1		1	1		0	0	112	0		1	1	0	30	0	113	0	87	430
DOCK3	1795	broad.mit.edu	37	3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	377					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368																																						ENST00000266037.9	1.000000	0.400000	1	5.700000e-01	0.790000	0.783268	0.790000	1.000000																										0				45						c.(1129-1131)cTt>cGt		dedicator of cytokinesis 3							103.0	97.0	99.0					3																	51251556		1863	4121	5984	SO:0001583	missense	1795	0	0					g.chr3:51251556T>G	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.1130T>G	chr3.hg19:g.51251556T>G	ENSP00000266037:p.Leu377Arg	0						p.L377R	NM_004947.4	NP_004938.1	1	2	3	1.998468	Q8IZD9	DOCK3_HUMAN		14	1153	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	1	1	hg19	c.1130T>G	CCDS46835.1	0	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412551	0.83340	.	.	ENSG00000088538	ENST00000266037	T	0.09163	3.01	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.48387	-0.9040	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	377	Q8IZD9	DOCK3_HUMAN	R	377	ENSP00000266037:L377R	ENSP00000266037:L377R	L	+	2	0	0	DOCK3	51226596	51226596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-5.409453	1	0.170000	NM_004947			10	10		146	142	0		1		1	0	0	32	391		9.967779e-01	0	9.999994e-01	0	20	0	517	10	146
DOCK3	1795	broad.mit.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433																																						ENST00000266037.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1351-1353)Ctt>Att		dedicator of cytokinesis 3							165.0	162.0	163.0					3																	51263178		1892	4125	6017	SO:0001583	missense	1795	0	0					g.chr3:51263178C>A	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.1351C>A	chr3.hg19:g.51263178C>A	ENSP00000266037:p.Leu451Ile	0						p.L451I	NM_004947.4	NP_004938.1	1	2	3	1.998468	Q8IZD9	DOCK3_HUMAN		15	1374	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	1	1	hg19	c.1351C>A	CCDS46835.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	0	DOCK3	51238218	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_004947			88	86		400	390	1		1		1	0	0	95	197		1	0	1	0	46	0	182	88	400
DOCK3	1795	broad.mit.edu	37	3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	479	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L468I(1)|p.L479I(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)		CTCCTTTGTCCTCTACCACAG	0.478																																						ENST00000266037.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.L468I(1)|p.L479I(1)	lung(2)	45						c.(1435-1437)Ctc>Atc		dedicator of cytokinesis 3							160.0	154.0	156.0					3																	51264771		1853	4092	5945	SO:0001583	missense	1795	0	0					g.chr3:51264771C>A	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.1435C>A	chr3.hg19:g.51264771C>A	ENSP00000266037:p.Leu479Ile	0						p.L479I	NM_004947.4	NP_004938.1	1	2	3	1.998468	Q8IZD9	DOCK3_HUMAN		16	1458	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	1	1	hg19	c.1435C>A	CCDS46835.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.152422	0.94645	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00501	-1.1702	10	0.19590	T	0.45	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	479	Q8IZD9	DOCK3_HUMAN	I	479	ENSP00000266037:L479I	ENSP00000266037:L479I	L	+	1	0	0	DOCK3	51239811	51239811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-3.111850	1	0.170000	NM_004947			145	143		587	576	1		1		1	0	0	167	519		1	0	1	0	86	0	588	145	587
DOCK3	1795	broad.mit.edu	37	3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1522	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGAGCTACGCTCCCTGAT	0.512																																						ENST00000266037.9	1.000000	0.690000	1	8.800000e-01	0.990000	0.957147	0.990000	1.000000																										0				45						c.(4564-4566)Cgc>Tgc		dedicator of cytokinesis 3							66.0	67.0	67.0					3																	51394453		2067	4207	6274	SO:0001583	missense	1795	0	0					g.chr3:51394453C>T	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.4564C>T	chr3.hg19:g.51394453C>T	ENSP00000266037:p.Arg1522Cys	0						p.R1522C	NM_004947.4	NP_004938.1	1	2	3	1.998468	Q8IZD9	DOCK3_HUMAN		44	4587	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	0	1	hg19	c.4564C>T	CCDS46835.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429971	0.83776	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18174	2.23	5.84	4.91	0.64330	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40270	-0.9572	10	0.56958	D	0.05	.	12.2217	0.54437	0.3272:0.6728:0.0:0.0	.	1522	Q8IZD9	DOCK3_HUMAN	C	1522;318	ENSP00000266037:R1522C	ENSP00000266037:R1522C	R	+	1	0	0	DOCK3	51369493	51369493	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.501000	0.60393	2.765000	0.95021	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1		15	2	2	1		1	1	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_004947			19	19		187	183	0		1	0	1	1	0	48	223		7.940295e-01	0	9.999999e-01	0	33	1	291	19	187
DOCK3	1795	broad.mit.edu	37	3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1728					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557																																						ENST00000266037.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(5182-5184)aCc>aTc		dedicator of cytokinesis 3							121.0	128.0	126.0					3																	51399995		2099	4219	6318	SO:0001583	missense	1795	0	0					g.chr3:51399995C>T	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.5183C>T	chr3.hg19:g.51399995C>T	ENSP00000266037:p.Thr1728Ile	0						p.T1728I	NM_004947.4	NP_004938.1	1	2	3	1.998468	Q8IZD9	DOCK3_HUMAN		49	5206	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	1	1	hg19	c.5183C>T	CCDS46835.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832503	0.50845	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05139	3.49	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.336637	0.33834	N	0.004503	T	0.07863	0.0197	L	0.40543	1.245	0.45427	D	0.998408	B	0.32968	0.392	B	0.31869	0.137	T	0.15350	-1.0440	10	0.56958	D	0.05	.	15.5861	0.76485	0.0:0.862:0.138:0.0	.	1728	Q8IZD9	DOCK3_HUMAN	I	1728;524	ENSP00000266037:T1728I	ENSP00000266037:T1728I	T	+	2	0	0	DOCK3	51375035	51375035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.702000	0.54800	2.605000	0.88082	0.563000	0.77884	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_004947			46	46		197	194	1		1	0	1	0	0	56	1145		1	9.744329e-02	1	0	233	3	972	46	197
VPRBP	9730	broad.mit.edu	37	3	51457286	51457286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1046					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)			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)		AGTTTATTGGCGCTTGCCGCC	0.507																																						ENST00000335891.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1789-1791)gcG>gcA		Vpr (HIV-1) binding protein							147.0	142.0	144.0					3																	51457286		1932	4137	6069	SO:0001819	synonymous_variant	9730	1	120892	33				g.chr3:51457286C>T	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.1791G>A	chr3.hg19:g.51457286C>T		0						p.A597A			1	2	3	1.998468	Q9Y4B6	VPRBP_HUMAN		7	1800	-			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	1	1	hg19	c.1791G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-4.144474	1	0.170000	NM_014703			118	117		425	415	1		1	1		0	0	102	0		1	9.999949e-01	0	12	0	53	0	118	425
VPRBP	9730	broad.mit.edu	37	3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	886	Protein kinase-like.				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)			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)		TGGGGTAAAGGCAGAAGAATG	0.527																																						ENST00000335891.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1309-1311)gCc>gTc		Vpr (HIV-1) binding protein							125.0	136.0	132.0					3																	51457767		2169	4263	6432	SO:0001583	missense	9730	0	0					g.chr3:51457767G>A	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.1310C>T	chr3.hg19:g.51457767G>A	ENSP00000338857:p.Ala437Val	0						p.A437V			1	2	3	1.998468	Q9Y4B6	VPRBP_HUMAN		7	1319	-			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	1	1	hg19	c.1310C>T		1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877421	0.33162	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.263121	0.44688	D	0.000424	T	0.31071	0.0785	L	0.34521	1.04	0.44603	D	0.997579	B	0.29646	0.253	B	0.28305	0.088	T	0.06935	-1.0799	10	0.13470	T	0.59	-12.0272	20.6439	0.99570	0.0:0.0:1.0:0.0	.	886	Q9Y4B6	VPRBP_HUMAN	V	457;437	ENSP00000393183:A457V;ENSP00000338857:A437V	ENSP00000338857:A437V	A	-	2	0	0	VPRBP	51432807	51432807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.884000	0.98904	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_014703			66	65		337	325	1		1	1		0	0	83	0		1	9.999010e-01	0	26	0	44	0	66	337
VPRBP	9730	broad.mit.edu	37	3	51458120	51458120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	768	Protein kinase-like.				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)			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)		GGACAGTGCTACTGCGAGACA	0.567																																						ENST00000335891.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(955-957)agT>agC		Vpr (HIV-1) binding protein							102.0	97.0	99.0					3																	51458120		1995	4169	6164	SO:0001819	synonymous_variant	9730	0	0					g.chr3:51458120A>G	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.957T>C	chr3.hg19:g.51458120A>G		0						p.S319S			1	2	3	1.998468	Q9Y4B6	VPRBP_HUMAN		7	966	-			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	1	1	hg19	c.957T>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_014703			97	96		437	431	1		1	1		0	0	103	0		1	9.999901e-01	0	19	0	57	0	97	437
GRM2	2912	broad.mit.edu	37	3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	9					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGCTCCTGGCACTGCTGCT	0.632																																						ENST00000395052.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(25-27)Gca>Aca		glutamate receptor, metabotropic 2							36.0	40.0	39.0					3																	51743024		2201	4300	6501	SO:0001583	missense	2912	0	0					g.chr3:51743024G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.25G>A	chr3.hg19:g.51743024G>A	ENSP00000378492:p.Ala9Thr	0					GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	p.A9T	NM_000839.3	NP_000830.2	1	2	3	1.998468	Q14416	GRM2_HUMAN		2	259	+			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	1	1	hg19	c.25G>A	CCDS2834.1	1	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178770	0.21787	.	.	ENSG00000164082	ENST00000395052;ENST00000419928;ENST00000442933	D;D;D	0.94232	-2.44;-3.38;-2.54	4.98	1.85	0.25348	4.98	1.85	0.25348	.	0.572387	0.10090	U	0.717260	D	0.84424	0.5469	N	0.19112	0.55	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.70428	-0.4874	10	0.22109	T	0.4	.	3.3242	0.07061	0.1657:0.2389:0.4812:0.1143	.	9	Q14416	GRM2_HUMAN	T	9	ENSP00000378492:A9T;ENSP00000404797:A9T;ENSP00000408906:A9T	ENSP00000296479:A9T	A	+	1	0	0	GRM2	51718064	51718064	0.168000	0.22989	0.928000	0.36995	0.922000	0.55478	0.356000	0.20181	0.622000	0.30249	-0.310000	0.09108	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				38	38		136	134	1		1			0	0	29	0		1	0	0	0	0	0	0	38	136
GRM2	2912	broad.mit.edu	37	3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCCGTGGTGCTGATGGCTC	0.597																																						ENST00000395052.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(340-342)Gct>Act		glutamate receptor, metabotropic 2							92.0	72.0	78.0					3																	51743339		2203	4300	6503	SO:0001583	missense	2912	0	0					g.chr3:51743339G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.340G>A	chr3.hg19:g.51743339G>A	ENSP00000378492:p.Ala114Thr	0					GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	p.A114T	NM_000839.3	NP_000830.2	1	2	3	1.998468	Q14416	GRM2_HUMAN		2	574	+			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	1	1	hg19	c.340G>A	CCDS2834.1	1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202368	0.38905	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.143290	0.48286	D	0.000185	T	0.66626	0.2808	N	0.02721	-0.515	0.41098	D	0.985647	B	0.17038	0.02	B	0.21360	0.034	T	0.64037	-0.6501	10	0.14252	T	0.57	.	12.5595	0.56273	0.0758:0.0:0.9242:0.0	.	114	Q14416	GRM2_HUMAN	T	114	ENSP00000378492:A114T;ENSP00000408906:A114T	ENSP00000296479:A114T	A	+	1	0	0	GRM2	51718379	51718379	0.997000	0.39634	0.260000	0.24451	0.952000	0.60782	4.131000	0.57970	2.555000	0.86185	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000				68	67		289	285	0		1			0	0	80	0		1	0	0	0	0	0	0	68	289
GRM2	2912	broad.mit.edu	37	3	51749343	51749343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	518					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAAGTCTGCTGCTGGCTCT	0.632																																						ENST00000395052.3	1.000000	0.470000	1	6.300000e-01	0.830000	0.819685	0.830000	1.000000																										0				33						c.(1552-1554)tgC>tgT		glutamate receptor, metabotropic 2							34.0	31.0	32.0					3																	51749343		2203	4300	6503	SO:0001819	synonymous_variant	2912	0	0					g.chr3:51749343C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1554C>T	chr3.hg19:g.51749343C>T		0					GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	p.C518C	NM_000839.3	NP_000830.2	1	2	3	1.998468	Q14416	GRM2_HUMAN		4	1788	+			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	1	1	hg19	c.1554C>T	CCDS2834.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-18.262890	1	0.170000				14	14		191	189	0		1			0	0	50	0		9.997713e-01	0	0	0	0	0	0	14	191
IQCF2	389123	broad.mit.edu	37	3	51897380	51897380	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	163										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)		AGATCATCAACTCCTAAGGGC	0.552																																						ENST00000333127.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(487-489)aaC>aaT		IQ motif containing F2							87.0	85.0	86.0					3																	51897380		2203	4300	6503	SO:0001819	synonymous_variant	389123	0	0					g.chr3:51897380C>T	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.489C>T	chr3.hg19:g.51897380C>T		0					IQCF2_ENST00000429548.1_3'UTR	p.N163N	NM_203424.1	NP_982248.1	1	2	3	1.998468	Q8IXL9	IQCF2_HUMAN		3	518	+				Silent	SNP	ENST00000333127.3	1	1	hg19	c.489C>T	CCDS2835.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	1	0	1		2	2	2	0		0	0	127		127	133	1	2.060000	-20.000000	1	0.170000	NM_203424			91	90		429	424	1		1			0	0	127	0		1	0	0	0	0	0	0	91	429
IQCF1	132141	broad.mit.edu	37	3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									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)		ATAGCGTCTGCGGATGCGCCA	0.607																																						ENST00000310914.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(421-423)cGc>cAc		IQ motif containing F1							93.0	85.0	88.0					3																	51929102		2203	4300	6503	SO:0001583	missense	132141	4	121412	40				g.chr3:51929102C>T	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.422G>A	chr3.hg19:g.51929102C>T	ENSP00000307958:p.Arg141His	0						p.R141H	NM_152397.2	NP_689610.2	1	2	3	1.998468	Q8N6M8	IQCF1_HUMAN		4	484	-			Q8N711	Missense_Mutation	SNP	ENST00000310914.5	1	1	hg19	c.422G>A	CCDS2836.1	1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	0	IQCF1	51904142	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_152397			94	94		467	461	1		1			0	0	121	0		1	0	0	0	0	0	0	94	467
GPR62	118442	broad.mit.edu	37	3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746																																						ENST00000322241.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999793	0.990000	1.000000																										0				5						c.(577-579)Ggc>Agc		G protein-coupled receptor 62							5.0	6.0	6.0					3																	51990245		1273	2760	4033	SO:0001583	missense	118442	0	0					g.chr3:51990245G>A	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.577G>A	chr3.hg19:g.51990245G>A	ENSP00000319250:p.Gly193Ser	0						p.G193S	NM_080865.3	NP_543141.3	1	2	3	1.998468	Q9BZJ7	GPR62_HUMAN		1	916	+			F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	0	1	hg19	c.577G>A	CCDS2838.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272912	0.23221	.	.	ENSG00000180929	ENST00000322241	T	0.71817	-0.6	4.21	1.38	0.22167	4.21	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.779683	0.10556	N	0.660823	T	0.50922	0.1644	N	0.17631	0.505	0.27682	N	0.946402	B	0.25206	0.12	B	0.21546	0.035	T	0.33727	-0.9857	10	0.20519	T	0.43	-14.668	7.3158	0.26499	0.2858:0.0:0.7142:0.0	.	193	Q9BZJ7	GPR62_HUMAN	S	193	ENSP00000319250:G193S	ENSP00000319250:G193S	G	+	1	0	0	GPR62	51965285	51965285	0.282000	0.24268	0.952000	0.39060	0.802000	0.45316	0.144000	0.16135	-0.033000	0.13736	0.305000	0.20034	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-20.000000	1	0.170000				16	16		68	64	0		1			0	0	8	0		9.999455e-01	0	0	0	0	0	0	16	68
GPR62	118442	broad.mit.edu	37	3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697																																						ENST00000322241.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(952-954)cCg>cTg		G protein-coupled receptor 62							11.0	14.0	13.0					3																	51990621		2166	4252	6418	SO:0001583	missense	118442	0	0					g.chr3:51990621C>T	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.953C>T	chr3.hg19:g.51990621C>T	ENSP00000319250:p.Pro318Leu	0						p.P318L	NM_080865.3	NP_543141.3	1	2	3	1.998468	Q9BZJ7	GPR62_HUMAN		1	1292	+			F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	1	1	hg19	c.953C>T	CCDS2838.1	1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455750	0.12283	.	.	ENSG00000180929	ENST00000322241	T	0.03065	4.06	4.75	0.657	0.17850	4.75	0.657	0.17850	.	0.597438	0.12512	U	0.462400	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48525	-0.9028	10	0.16420	T	0.52	-10.3083	7.1624	0.25671	0.0:0.5642:0.0:0.4358	.	318	Q9BZJ7	GPR62_HUMAN	L	318	ENSP00000319250:P318L	ENSP00000319250:P318L	P	+	2	0	0	GPR62	51965661	51965661	0.000000	0.05858	0.010000	0.14722	0.685000	0.39939	0.147000	0.16202	0.058000	0.16222	0.561000	0.74099	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				52	52		146	140	0		1			0	0	21	0		1	0	0	0	0	0	0	52	146
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ACY1_ENST00000476854.1_5'Flank|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000494103.1_5'Flank|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000458031.2_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	158						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627																																						ENST00000273596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(472-474)Cgg>Tgg		abhydrolase domain containing 14A		C	TRP/ARG	0,4406		0,0,2203	59.0	59.0	59.0		472	3.9	0.0	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABHD14A	NM_015407.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	158/272	52014483	1,13005	2203	4300	6503	SO:0001583	missense	25864	12	121408	42				g.chr3:52014483C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.472C>T	chr3.hg19:g.52014483C>T	ENSP00000273596:p.Arg158Trp	0					ACY1_ENST00000494103.1_5'Flank|ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000458031.2_Intron|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Intron	p.R158W	NM_015407.4	NP_056222.2	1	2	3	1.998468	Q9BUJ0	ABHEA_HUMAN		4	540	+			Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	1	1	hg19	c.472C>T	CCDS2843.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152146	0.38021	0.0	1.16E-4	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.35973	1.28;1.92	5.69	3.86	0.44501	5.69	3.86	0.44501	.	0.985990	0.08284	N	0.969485	T	0.49525	0.1562	M	0.81682	2.555	0.51012	D	0.9999	D	0.63880	0.993	P	0.51229	0.663	T	0.44559	-0.9320	10	0.72032	D	0.01	-0.6127	5.0677	0.14591	0.1396:0.6:0.182:0.0784	.	158	Q9BUJ0	ABHEA_HUMAN	W	223;158;116;116	ENSP00000418242:R223W;ENSP00000273596:R158W	ENSP00000273596:R158W	R	+	1	2	2	ABHD14A	51989523	51989523	0.273000	0.24181	0.017000	0.16124	0.110000	0.19582	0.976000	0.29462	0.678000	0.31325	-0.251000	0.11542	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.606234	1	0.170000	NM_015407			107	105		393	382	1		1	1		0	0	71	0		1	9.999993e-01	0	21	0	56	0	107	393
DUSP7	1849	broad.mit.edu	37	3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	311	Tyrosine-protein phosphatase.				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)			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)		ATGGCCTCAGGGAAGAACTGG	0.612																																						ENST00000495880.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(931-933)Cct>Act		dual specificity phosphatase 7							126.0	126.0	126.0					3																	52087977		2203	4300	6503	SO:0001583	missense	1849	0	0					g.chr3:52087977G>T	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.931C>A	chr3.hg19:g.52087977G>T	ENSP00000417183:p.Pro311Thr	0					DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T	p.P311T			1	2	3	1.998468	Q16829	DUS7_HUMAN		2	1114	-			Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	1	1	hg19	c.931C>A	CCDS33766.2	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049044	0.93740	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86030	-2.06;-2.06;-2.06	5.54	5.54	0.83059	5.54	5.54	0.83059	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	0.92724	0.7687	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92917	0.6352	10	0.72032	D	0.01	.	19.4497	0.94862	0.0:0.0:1.0:0.0	.	260;311	Q16829-2;Q16829	.;DUS7_HUMAN	T	311;260;244	ENSP00000417183:P311T;ENSP00000296483:P260T;ENSP00000418566:P244T	ENSP00000296483:P260T	P	-	1	0	0	DUSP7	52063017	52063017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.094645	1	0.170000	NM_001947			84	81		380	376	1		1	1		0	0	93	0		1	1	0	21	0	111	0	84	380
DUSP7	1849	broad.mit.edu	37	3	52088391	52088391	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52088391C>A	ENST00000495880.1	-	2	701		c.e2-1		DUSP7_ENST00000296483.6_Splice_Site			Q16829	DUS7_HUMAN	dual specificity phosphatase 7						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)			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)		TTGAAACCACCTGTGTCCAGG	0.597																																						ENST00000495880.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.e2-1		dual specificity phosphatase 7							30.0	34.0	32.0					3																	52088391		2203	4300	6503	SO:0001630	splice_region_variant	1849	0	0					g.chr3:52088391C>A	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.518-1G>T	chr3.hg19:g.52088391C>A		0					DUSP7_ENST00000296483.6_Splice_Site				1	2	3	1.998468	Q16829	DUS7_HUMAN		2	701	-			Q2M3J7|Q8NFJ0	Splice_Site	SNP	ENST00000495880.1	1	0	hg19		CCDS33766.2	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197309	0.79015	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	.	.	.	5.42	4.55	0.56014	5.42	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7692	0.63015	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	.	DUSP7	52063431	52063431	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.749000	0.85096	1.282000	0.44496	0.549000	0.68633	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_001947	Intron		36	36		168	165	0		1	1		0	0	27	0		1	7.361416e-01	0	14	0	0	0	36	168
POC1A	25886	broad.mit.edu	37	3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000296484.2	-	9	952	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000394970.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	305					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CCATGATCAACAATATCAAAG	0.517																																						ENST00000296484.2	1.000000	0.520000	1	6.700000e-01	0.850000	0.839612	0.850000	1.000000																										0				14						c.(913-915)Gtt>Att		POC1 centriolar protein A							93.0	87.0	89.0					3																	52156463		2203	4300	6503	SO:0001583	missense	25886	0	0					g.chr3:52156463C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.913G>A	chr3.hg19:g.52156463C>T	ENSP00000296484:p.Val305Ile	0					POC1A_ENST00000474012.1_Missense_Mutation_p.V267I|POC1A_ENST00000394970.2_Missense_Mutation_p.V305I	p.V305I	NM_015426.4	NP_056241.3	1	2	3	1.998468	Q8NBT0	POC1A_HUMAN		9	952	-			A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	1	1	hg19	c.913G>A	CCDS2846.1	1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179576	0.09443	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.58797	0.32;0.31;0.5	4.64	0.836	0.18891	4.64	0.836	0.18891	WD40-repeat-containing domain (1);	1.093350	0.06840	N	0.795476	T	0.41305	0.1153	N	0.20807	0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.25950	-1.0117	10	0.32370	T	0.25	.	8.4839	0.33061	0.0:0.6345:0.0:0.3655	.	305;305	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	305;305;267	ENSP00000296484:V305I;ENSP00000378421:V305I;ENSP00000418968:V267I	ENSP00000296484:V305I	V	-	1	0	0	POC1A	52131503	52131503	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.017000	0.12590	0.045000	0.15804	-1.814000	0.00607	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-19.999850	1	0.170000	NM_015426			19	18		251	248	0		1	1		0	0	55	0		9.999910e-01	5.860751e-01	0	2	0	25	0	19	251
POC1A	25886	broad.mit.edu	37	3	52181054	52181054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000296484.2	-	5	552	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000394970.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	171			L -> P (in SOFT). {ECO:0000269|PubMed:22840363}.		cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582																																						ENST00000296484.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(511-513)ctG>ctA		POC1 centriolar protein A							109.0	99.0	102.0					3																	52181054		2203	4300	6503	SO:0001819	synonymous_variant	25886	0	0					g.chr3:52181054C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.513G>A	chr3.hg19:g.52181054C>T		0					POC1A_ENST00000474012.1_Silent_p.L133L|POC1A_ENST00000394970.2_Silent_p.L171L	p.L171L	NM_015426.4	NP_056241.3	1	2	3	1.998468	Q8NBT0	POC1A_HUMAN		5	552	-			A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	1	1	hg19	c.513G>A	CCDS2846.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_015426			63	61		334	331	1		1	1		0	0	91	0		1	9.596724e-01	0	11	0	19	0	63	334
POC1A	25886	broad.mit.edu	37	3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000296484.2	-	2	100	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000394970.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	21					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532																																						ENST00000296484.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(61-63)Gca>Tca		POC1 centriolar protein A							178.0	158.0	165.0					3																	52185074		2203	4300	6503	SO:0001583	missense	25886	0	0					g.chr3:52185074C>A	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.61G>T	chr3.hg19:g.52185074C>A	ENSP00000296484:p.Ala21Ser	0					POC1A_ENST00000474012.1_5'UTR|POC1A_ENST00000394970.2_Missense_Mutation_p.A21S	p.A21S	NM_015426.4	NP_056241.3	1	2	3	1.998468	Q8NBT0	POC1A_HUMAN		2	100	-			A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	1	1	hg19	c.61G>T	CCDS2846.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730235	0.48939	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	T;T	0.59638	0.25;0.25	5.11	5.11	0.69529	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.583031	0.18731	N	0.132733	T	0.45617	0.1351	L	0.37507	1.11	0.32886	D	0.51126	B;B	0.25809	0.135;0.078	B;B	0.26310	0.067;0.068	T	0.50642	-0.8804	10	0.17369	T	0.5	.	11.7868	0.52047	0.0:0.9193:0.0:0.0807	.	21;21	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	S	21	ENSP00000296484:A21S;ENSP00000378421:A21S	ENSP00000296484:A21S	A	-	1	0	0	POC1A	52160114	52160114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.643000	0.89663	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-20.000000	1	0.170000	NM_015426			127	123		594	585	1		1	1		0	0	149	0		1	7.696531e-01	0	7	0	8	0	127	594
ALAS1	211	broad.mit.edu	37	3	52239987	52239987	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000469224.1_Silent_p.S311S|ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTTTTCCTCGTGCTTTGTGG	0.483																																						ENST00000394965.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S311S(1)	ovary(1)	23						c.(931-933)tcG>tcA		aminolevulinate, delta-, synthase 1	Glycine(DB00145)						166.0	157.0	160.0					3																	52239987		2203	4300	6503	SO:0001819	synonymous_variant	211	2	121412	37				g.chr3:52239987G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.933G>A	chr3.hg19:g.52239987G>A		0					ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S	p.S311S	NM_000688.5	NP_000679.1	1	2	3	1.998468	P13196	HEM1_HUMAN		7	1293	+				Silent	SNP	ENST00000394965.2	1	1	hg19	c.933G>A	CCDS2847.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-5.500976	1	0.170000				107	105		324	319	1		1	1		0	0	96	0		1	1	0	123	0	250	0	107	324
TLR9	54106	broad.mit.edu	37	3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000360658.2	-	2	2902	c.2269G>A	c.(2269-2271)Gta>Ata	p.V757I	TLR9_ENST00000597542.1_Missense_Mutation_p.V781I|TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	757					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)			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)	TTGGCGCTTACATCTAGTATT	0.637																																						ENST00000360658.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2269-2271)Gta>Ata		toll-like receptor 9	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)						52.0	54.0	54.0					3																	52256063		2203	4300	6503	SO:0001583	missense	54106	0	0					g.chr3:52256063C>T	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.2269G>A	chr3.hg19:g.52256063C>T	ENSP00000353874:p.Val757Ile	0					TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000597542.1_Missense_Mutation_p.V781I	p.V757I	NM_017442.3	NP_059138.1	1	2	3	1.998468	Q9NR96	TLR9_HUMAN		2	2902	-			B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	1	1	hg19	c.2269G>A	CCDS2848.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.740014|1.740014	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.56275	.|0.47	5.14|5.14	4.14|4.14	0.48551|0.48551	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.33938	.|N	.|0.004413	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.03608|0.03608	-0.345|-0.345	0.24419|0.24419	N|N	0.994621|0.994621	.|B;P	.|0.38148	.|0.114;0.62	.|B;B	.|0.36092	.|0.055;0.217	T|T	0.10520|0.10520	-1.0626|-1.0626	5|10	.|0.44086	.|T	.|0.13	.|.	8.2711|8.2711	0.31844|0.31844	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|854;757	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Y|I	910|757	.|ENSP00000353874:V757I	.|ENSP00000353874:V757I	C|V	-|-	2|1	0|0	0|0	RP11-330H6.5|TLR9	52231103|52231103	52231103|52231103	0.003000|0.003000	0.15002|0.15002	0.255000|0.255000	0.24374|0.24374	0.066000|0.066000	0.16364|0.16364	-0.002000|-0.002000	0.12924|0.12924	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	TGT|GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				76	75		382	378	1		1	0		0	0	96	0		1	2.819957e-02	0	0	0	2	0	76	382
TLR9	54106	broad.mit.edu	37	3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000360658.2	-	2	2744	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q|TLR9_ENST00000494383.1_Silent_p.P857P	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	704					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)			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)	ATCCAGCCTCCGGAGCCGGGT	0.627																																						ENST00000360658.2	1.000000	0.700000	1	8.300000e-01	0.990000	0.938074	0.990000	1.000000																										0				30						c.(2110-2112)cGg>cAg		toll-like receptor 9	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)						39.0	46.0	44.0					3																	52256221		2203	4300	6503	SO:0001583	missense	54106	2	121412	32				g.chr3:52256221C>T	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.2111G>A	chr3.hg19:g.52256221C>T	ENSP00000353874:p.Arg704Gln	0					TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q	p.R704Q	NM_017442.3	NP_059138.1	1	2	3	1.998468	Q9NR96	TLR9_HUMAN		2	2744	-			B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	1	1	hg19	c.2111G>A	CCDS2848.1	1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138269	0.01742	.	.	ENSG00000239732	ENST00000360658	T	0.58506	0.33	5.03	-4.47	0.03525	5.03	-4.47	0.03525	.	0.711076	0.11608	N	0.547128	T	0.28896	0.0717	N	0.17674	0.51	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.12837	0.002;0.008	T	0.37079	-0.9721	10	0.02654	T	1	.	6.3756	0.21505	0.1466:0.5007:0.0:0.3527	.	801;704	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	704	ENSP00000353874:R704Q	ENSP00000353874:R704Q	R	-	2	0	0	TLR9	52231261	52231261	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.632000	0.00870	-0.844000	0.04184	0.462000	0.41574	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	0	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.841672	1	0.170000				36	36		398	391	0		1	0		0	0	77	0		1	3.919912e-02	0	0	0	4	0	36	398
TLR9	54106	broad.mit.edu	37	3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000360658.2	-	2	1403	c.770G>A	c.(769-771)cGc>cAc	p.R257H	TLR9_ENST00000597542.1_Missense_Mutation_p.R281H|TLR9_ENST00000494383.1_Silent_p.P410P	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	257					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)			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)	GTGGTCGCAGCGGCGGCAATT	0.617																																						ENST00000360658.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999885	0.990000	1.000000																										0				30						c.(769-771)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)						41.0	34.0	36.0					3																	52257562		2203	4300	6503	SO:0001583	missense	54106	0	0					g.chr3:52257562C>T	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.770G>A	chr3.hg19:g.52257562C>T	ENSP00000353874:p.Arg257His	0					TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000597542.1_Missense_Mutation_p.R281H	p.R257H	NM_017442.3	NP_059138.1	1	2	3	1.998468	Q9NR96	TLR9_HUMAN		2	1403	-			B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	1	1	hg19	c.770G>A	CCDS2848.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622972	0.87460	.	.	ENSG00000239732	ENST00000360658	T	0.19105	2.17	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.32548	N	0.005945	T	0.52273	0.1724	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58999	-0.7536	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	354;257	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	257	ENSP00000353874:R257H	ENSP00000353874:R257H	R	-	2	0	0	TLR9	52232602	52232602	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	7.427000	0.80284	2.521000	0.84997	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000				26	26		143	141	1		1			0	0	33	0		1	0	0	0	0	0	0	26	143
TLR9	54106	broad.mit.edu	37	3	52258212	52258212	+	Silent	SNP	G	G	A	rs151147353	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000360658.2	-	2	753	c.120C>T	c.(118-120)caC>caT	p.H40H	TLR9_ENST00000597542.1_Silent_p.H64H|TLR9_ENST00000494383.1_Missense_Mutation_p.R194W	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	40					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)			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)	TCACCAGGCCGTGGGGCTGGA	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20588	0.0		0.0	False		,,,				2504	0.0					ENST00000360658.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.996878	0.990000	1.000000																										0				30						c.(118-120)caC>caT		toll-like receptor 9	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	A		4,4402	8.1+/-20.4	0,4,2199	84.0	73.0	77.0		120	-10.4	0.0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	TLR9	NM_017442.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		40/1033	52258212	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54106	22	121408	45				g.chr3:52258212G>A	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.120C>T	chr3.hg19:g.52258212G>A		0					TLR9_ENST00000494383.1_Missense_Mutation_p.R194W|TLR9_ENST00000597542.1_Silent_p.H64H	p.H40H	NM_017442.3	NP_059138.1	1	2	3	1.998468	Q9NR96	TLR9_HUMAN		2	753	-			B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Silent	SNP	ENST00000360658.2	1	0	hg19	c.120C>T	CCDS2848.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.012	-1.652272	0.00785	9.08E-4	0.0	ENSG00000173366	ENST00000494383	.	.	.	5.21	-10.4	0.00318	5.21	-10.4	0.00318	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	3.9338	0.09298	0.235:0.1249:0.4535:0.1866	.	.	.	.	W	194	.	.	R	-	1	2	2	RP11-330H6.5	52233252	52233252	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-6.209000	0.00076	-5.697000	0.00010	-4.451000	0.00005	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-7.470407	1	0.170000				32	31		250	243	0		1	0		0	0	43	0		1	3.819353e-02	0	0	0	3	0	32	250
TWF2	11344	broad.mit.edu	37	3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000305533.5	-	5	680	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_Silent_p.P6P|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	146					barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGTCAGCGGGGCAGGTGC	0.617																																						ENST00000305533.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(436-438)cCg>cTg		twinfilin actin-binding protein 2							87.0	92.0	90.0					3																	52265189		2203	4300	6503	SO:0001583	missense	11344	0	0					g.chr3:52265189G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.437C>T	chr3.hg19:g.52265189G>A	ENSP00000303908:p.Pro146Leu	0					TLR9_ENST00000494383.1_Silent_p.P6P|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L|TLR9_ENST00000597542.1_5'UTR	p.P146L	NM_007284.3	NP_009215.1	1	2	3	1.998468	Q6IBS0	TWF2_HUMAN		5	680	-			Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	1	1	hg19	c.437C>T	CCDS2849.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244418	0.59103	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	5.41	5.41	0.78517	.	.	.	.	.	T	0.59649	0.2209	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61422	-0.7066	9	0.35671	T	0.21	.	14.4189	0.67171	0.0733:0.0:0.9267:0.0	.	146;146	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	146	ENSP00000303908:P146L;ENSP00000426464:P146L	ENSP00000303908:P146L	P	-	2	0	0	TWF2	52240229	52240229	1.000000	0.71417	0.953000	0.39169	0.107000	0.19398	5.350000	0.66016	2.527000	0.85204	0.448000	0.29417	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-2.716744	1	0.170000				95	92		585	575	1		1	1		0	0	107	0		1	1	0	133	0	469	0	95	585
TWF2	11344	broad.mit.edu	37	3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000305533.5	-	3	457	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_5'Flank|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	72	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.		R -> C (in dbSNP:rs35114109). {ECO:0000269|PubMed:17344846}.		barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCGAGGCGGTAGAGCAGG	0.647											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305533.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(214-216)Cgc>Tgc		twinfilin actin-binding protein 2							88.0	82.0	84.0					3																	52266028		2203	4300	6503	SO:0001583	missense	11344	1	121412	42				g.chr3:52266028G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.214C>T	chr3.hg19:g.52266028G>A	ENSP00000303908:p.Arg72Cys	0		OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_ENST00000494383.1_5'Flank|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C|TLR9_ENST00000597542.1_5'UTR	p.R72C	NM_007284.3	NP_009215.1	1	2	3	1.998468	Q6IBS0	TWF2_HUMAN		3	457	-			Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	1	1	hg19	c.214C>T	CCDS2849.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.38560	1.13;1.13	5.61	5.61	0.85477	5.61	5.61	0.85477	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.71660	0.3366	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.932	T	0.76528	-0.2926	9	0.66056	D	0.02	.	19.6089	0.95594	0.0:0.0:1.0:0.0	rs35114109	72;72	D6RG15;Q6IBS0	.;TWF2_HUMAN	C	72	ENSP00000303908:R72C;ENSP00000426464:R72C	ENSP00000303908:R72C	R	-	1	0	0	TWF2	52241068	52241068	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.880000	0.87243	2.644000	0.89710	0.455000	0.32223	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.406822	1	0.170000				76	75		297	293	1		1	1		0	0	75	0		1	1	0	80	0	288	0	76	297
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						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.?(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)		TTTGGTTTCAGGAGGTATGTC	0.622																																						ENST00000420323.2	1.000000	0.760000	1	9.900000e-01	0.990000	0.985187	0.990000	1.000000																										1	Unknown(1)	p.?(1)	ovary(1)	62						c.e3-1		dynein, axonemal, heavy chain 1							48.0	49.0	49.0					3																	52357823		1916	4132	6048	SO:0001630	splice_region_variant	25981	0	0					g.chr3:52357823G>A	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.334-1G>A	chr3.hg19:g.52357823G>A		0							NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		3	594	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	0	1	hg19		CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DNAH1	52332863	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-13.259170	1	0.170000	NM_015512	Intron		6	6		31	31	1		1			0	0	14	0		9.694238e-01	0	0	0	0	0	0	6	31
DNAH1	25981	broad.mit.edu	37	3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	115	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)			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)		GAGGTATGTCGTGGCCCCCGA	0.627																																						ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999765	0.990000	1.000000																										0				62						c.(343-345)cGt>cAt		dynein, axonemal, heavy chain 1							46.0	48.0	47.0					3																	52357834		1934	4133	6067	SO:0001583	missense	25981	2	120616	21				g.chr3:52357834G>A	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.344G>A	chr3.hg19:g.52357834G>A	ENSP00000401514:p.Arg115His	0						p.R115H	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		3	605	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.344G>A	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919947	0.17982	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.07	1.11	0.20524	5.07	1.11	0.20524	.	1.333110	0.05233	N	0.510691	T	0.14399	0.0348	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.15141	0.012;0.01	B;B	0.08055	0.002;0.003	T	0.26950	-1.0088	10	0.35671	T	0.21	.	5.2573	0.15553	0.2825:0.2603:0.4572:0.0	.	115;115	C9JXH6;Q9P2D7-3	.;.	H	115	ENSP00000401514:R115H	ENSP00000401514:R115H	R	+	2	0	0	DNAH1	52332874	52332874	0.067000	0.21026	0.299000	0.25016	0.005000	0.04900	1.169000	0.31871	0.336000	0.23639	-0.150000	0.13652	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-19.999460	1	0.170000	NM_015512			11	11		29	29	1		1			0	0	14	0		9.991114e-01	0	0	0	0	0	0	11	29
DNAH1	25981	broad.mit.edu	37	3	52357889	52357889	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	ENST00000420323.2	+	3	660	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	133	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)			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)		ACAAGTTCACCCCAAGAGGTC	0.567																																						ENST00000420323.2	1.000000	0.820000	1	9.900000e-01	0.990000	0.989414	0.990000	1.000000																										0				62						c.(397-399)acC>acT		dynein, axonemal, heavy chain 1							41.0	42.0	42.0					3																	52357889		1933	4142	6075	SO:0001819	synonymous_variant	25981	0	0					g.chr3:52357889C>T	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.399C>T	chr3.hg19:g.52357889C>T		0						p.T133T	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		3	660	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	0	1	hg19	c.399C>T	CCDS46842.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-13.537950	1	0.170000	NM_015512			6	6		27	27	0		1			0	0	13	0		9.699981e-01	0	0	0	0	0	0	6	27
DNAH1	25981	broad.mit.edu	37	3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A	rs200051758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	188	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)			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)		CAGCATCCTCGCAAGATTGAG	0.642																																						ENST00000420323.2	1.000000	0.370000	1	5.400000e-01	0.780000	0.773680	0.780000	1.000000																										0				62						c.(562-564)cGc>cAc		dynein, axonemal, heavy chain 1							34.0	38.0	37.0					3																	52360312		2077	4205	6282	SO:0001583	missense	25981	3	121010	35				g.chr3:52360312G>A	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.563G>A	chr3.hg19:g.52360312G>A	ENSP00000401514:p.Arg188His	0						p.R188H	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		4	824	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.563G>A	CCDS46842.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.381376	0.95945	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	188;188	C9JXH6;Q9P2D7-3	.;.	H	188	ENSP00000401514:R188H	ENSP00000401514:R188H	R	+	2	0	0	DNAH1	52335352	52335352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.813000	0.96785	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-11.852460	1	0.170000	NM_015512			8	8		119	115	0		1	0		0	0	28	0		9.887258e-01	5.366726e-03	0	0	0	2	0	8	119
DNAH1	25981	broad.mit.edu	37	3	52360809	52360809	+	Missense_Mutation	SNP	G	G	A	rs373792628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360809G>A	ENST00000420323.2	+	5	901	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	214	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)			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)		CCAGGGCATCGACTCCAACAA	0.592																																						ENST00000420323.2	1.000000	0.150000	5.800000e-01	2.500000e-01	0.380000	0.428449	0.380000	0.340000																										0				62						c.(640-642)Gac>Aac		dynein, axonemal, heavy chain 1		G	ASN/ASP	0,4284		0,0,2142	103.0	123.0	117.0		640	5.6	1.0	3		117	1,8489		0,1,4244	no	missense	DNAH1	NM_015512.4	23	0,1,6386	AA,AG,GG		0.0118,0.0,0.0078	benign	214/4266	52360809	1,12773	2142	4245	6387	SO:0001583	missense	25981	10	121154	41				g.chr3:52360809G>A	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.640G>A	chr3.hg19:g.52360809G>A	ENSP00000401514:p.Asp214Asn	0						p.D214N	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		5	901	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	0	1	hg19	c.640G>A	CCDS46842.1	0	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778814	0.49891	0.0	1.18E-4	ENSG00000114841	ENST00000420323	T	0.23950	1.88	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.112641	0.39210	N	0.001427	T	0.20659	0.0497	L	0.35341	1.055	0.44890	D	0.997904	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.04005	-1.0985	10	0.23891	T	0.37	.	13.9344	0.64017	0.0723:0.0:0.9277:0.0	.	214;214	C9JXH6;Q9P2D7-3	.;.	N	214	ENSP00000401514:D214N	ENSP00000401514:D214N	D	+	1	0	0	DNAH1	52335849	52335849	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	2.950000	0.49081	2.655000	0.90218	0.462000	0.41574	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-3.401536	1	0.170000	NM_015512			6	6		197	188	0		1	0		0	0	46	0		9.604912e-01	3.862904e-03	0	0	0	3	0	6	197
DNAH1	25981	broad.mit.edu	37	3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	748	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)			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)		GCAGGCCTACGCCAAGGAGTA	0.582																																						ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(2242-2244)Gcc>Acc		dynein, axonemal, heavy chain 1							130.0	136.0	134.0					3																	52383039		2190	4282	6472	SO:0001583	missense	25981	0	0					g.chr3:52383039G>A	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.2242G>A	chr3.hg19:g.52383039G>A	ENSP00000401514:p.Ala748Thr	0						p.A748T	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		13	2503	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.2242G>A	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371925	0.61624	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.24	4.33	0.51752	5.24	4.33	0.51752	.	0.133352	0.33457	N	0.004882	T	0.38719	0.1051	M	0.83012	2.62	0.43050	D	0.994657	P;D	0.53619	0.668;0.961	B;P	0.48873	0.158;0.593	T	0.39502	-0.9611	10	0.52906	T	0.07	.	10.3996	0.44222	0.0718:0.0:0.7944:0.1338	.	748;748	C9JXH6;Q9P2D7-3	.;.	T	748	ENSP00000401514:A748T	ENSP00000401514:A748T	A	+	1	0	0	DNAH1	52358079	52358079	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	3.970000	0.56824	2.454000	0.82982	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.137623	1	0.170000	NM_015512			58	56		274	268	1		1	0		0	0	94	0		1	0	0	1	0	0	0	58	274
DNAH1	25981	broad.mit.edu	37	3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1229	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)			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)		CAAACTGAAGCTGACCCAGGT	0.577																																						ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3685-3687)Ctg>Atg		dynein, axonemal, heavy chain 1							90.0	92.0	91.0					3																	52389063		2006	4153	6159	SO:0001583	missense	25981	0	0					g.chr3:52389063C>A	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.3685C>A	chr3.hg19:g.52389063C>A	ENSP00000401514:p.Leu1229Met	0						p.L1229M	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		21	3946	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.3685C>A	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815470	0.32145	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.14	4.27	0.50696	5.14	4.27	0.50696	.	0.195600	0.24935	N	0.034437	T	0.51702	0.1690	L	0.39147	1.195	0.34934	D	0.749625	B	0.32382	0.368	B	0.38327	0.271	T	0.59332	-0.7474	10	0.39692	T	0.17	.	5.0893	0.14700	0.2129:0.6141:0.0:0.173	.	1229	C9JXH6	.	M	1229	ENSP00000401514:L1229M	ENSP00000401514:L1229M	L	+	1	2	2	DNAH1	52364103	52364103	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.028000	0.41088	1.164000	0.42652	0.462000	0.41574	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015512			53	52		227	220	1		1	1		0	0	77	0		1	2.462122e-01	0	2	0	3	0	53	227
DNAH1	25981	broad.mit.edu	37	3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1473	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)			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)		GCTCAGTGATCTGGTGGCCCT	0.592																																						ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(4417-4419)Ctg>Atg		dynein, axonemal, heavy chain 1							157.0	163.0	161.0					3																	52393941		2131	4242	6373	SO:0001583	missense	25981	0	0					g.chr3:52393941C>A	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.4417C>A	chr3.hg19:g.52393941C>A	ENSP00000401514:p.Leu1473Met	0						p.L1473M	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		27	4678	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.4417C>A	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494211	0.44352	.	.	ENSG00000114841	ENST00000420323	T	0.58210	0.35	5.13	3.33	0.38152	5.13	3.33	0.38152	.	0.000000	0.42294	D	0.000740	T	0.68952	0.3057	M	0.85777	2.775	0.43808	D	0.996361	D	0.65815	0.995	P	0.61722	0.893	T	0.69658	-0.5086	10	0.46703	T	0.11	.	9.803	0.40775	0.0:0.7571:0.0:0.2429	.	1473	C9JXH6	.	M	1473	ENSP00000401514:L1473M	ENSP00000401514:L1473M	L	+	1	2	2	DNAH1	52368981	52368981	0.787000	0.28750	1.000000	0.80357	0.763000	0.43281	0.671000	0.25172	0.744000	0.32741	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	191		191	190	1	2.060000	-20.000000	1	0.170000	NM_015512			190	183		776	764	1		1	0		0	0	191	0		1	1.015372e-01	0	1	0	2	0	190	776
DNAH1	25981	broad.mit.edu	37	3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T	rs199569114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2133					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)			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)		CTGGCTAAGGCTCAAGATGGA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0					ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998958	0.990000	1.000000																										0				62						c.(6397-6399)Ctc>Ttc		dynein, axonemal, heavy chain 1							29.0	31.0	31.0					3																	52404631		1974	4140	6114	SO:0001583	missense	25981	0	0					g.chr3:52404631C>T	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.6397C>T	chr3.hg19:g.52404631C>T	ENSP00000401514:p.Leu2133Phe	0						p.L2133F	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		40	6658	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.6397C>T	CCDS46842.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.713048	0.30413	.	.	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.0	-7.62	0.01294	5.0	-7.62	0.01294	.	2.801390	0.01128	N	0.005936	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.56958	D	0.05	.	1.2459	0.01973	0.2984:0.1958:0.3185:0.1873	.	2133	C9JXH6	.	F	2133	ENSP00000401514:L2133F	ENSP00000401514:L2133F	L	+	1	0	0	DNAH1	52379671	52379671	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.234000	0.09028	-0.885000	0.03971	-1.478000	0.00992	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_015512			16	16		87	86	1		1	0		0	0	19	0		9.999548e-01	1.901573e-01	0	1	0	4	0	16	87
DNAH1	25981	broad.mit.edu	37	3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A	rs372068387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2819	Stalk. {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)			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)		CATCCTCATCGGGCAGAAGAA	0.567											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				62						c.(8455-8457)Ggg>Agg		dynein, axonemal, heavy chain 1		G	ARG/GLY	0,4082		0,0,2041	41.0	43.0	42.0		8455	4.4	1.0	3		42	1,8375		0,1,4187	no	missense	DNAH1	NM_015512.4	125	0,1,6228	AA,AG,GG		0.0119,0.0,0.0080	benign	2819/4266	52418934	1,12457	2041	4188	6229	SO:0001583	missense	25981	6	120986	36				g.chr3:52418934G>A	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.8455G>A	chr3.hg19:g.52418934G>A	ENSP00000401514:p.Gly2819Arg	0		OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984		p.G2819R	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		53	8716	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	1	1	hg19	c.8455G>A	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305031	0.40795	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.122893	0.36740	N	0.002422	T	0.37461	0.1004	L	0.50919	1.6	0.52099	D	0.99994	B	0.25772	0.134	B	0.16722	0.016	T	0.19095	-1.0316	10	0.20519	T	0.43	.	17.1091	0.86670	0.0:0.0:1.0:0.0	.	2819	C9JXH6	.	R	2819	ENSP00000401514:G2819R	ENSP00000401514:G2819R	G	+	1	0	0	DNAH1	52393974	52393974	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	5.038000	0.64177	2.287000	0.76781	0.561000	0.74099	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-3.220005	1	0.170000	NM_015512			23	23		107	102	1		1	0		0	0	22	0		9.999995e-01	6.113852e-01	0	0	0	11	0	23	107
DNAH1	25981	broad.mit.edu	37	3	52425296	52425296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3346	AAA 5. {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)			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)		TCCTGGAGAACGTGGGCGAGG	0.607																																						ENST00000420323.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				62						c.(9841-9843)aaC>aaT		dynein, axonemal, heavy chain 1							31.0	35.0	33.0					3																	52425296		2159	4252	6411	SO:0001819	synonymous_variant	25981	6	121220	34				g.chr3:52425296C>T	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.9843C>T	chr3.hg19:g.52425296C>T		0						p.N3281N	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		62	10104	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	1	1	hg19	c.9843C>T	CCDS46842.1	1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789874	0.02884	.	.	ENSG00000114841	ENST00000480649	.	.	.	4.46	-7.97	0.01139	4.46	-7.97	0.01139	.	.	.	.	.	T	0.61223	0.2330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	.	14.9602	0.71151	0.0:0.5399:0.0:0.4601	.	.	.	.	C	93	.	.	R	+	1	0	0	DNAH1	52400336	52400336	0.004000	0.15560	0.845000	0.33349	0.137000	0.21094	-1.529000	0.02223	-1.758000	0.01315	-0.768000	0.03414	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_015512			21	20		78	75	1		1	1		0	0	14	0		9.999985e-01	4.677690e-01	0	2	0	5	0	21	78
DNAH1	25981	broad.mit.edu	37	3	52429072	52429072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3720					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)			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)		TCATTGAACCCCAGGCAAGTG	0.617																																						ENST00000420323.2	1.000000	0.680000	1	9.900000e-01	0.990000	0.974627	0.990000	1.000000																										0				62						c.(10963-10965)ccC>ccT		dynein, axonemal, heavy chain 1							28.0	31.0	30.0					3																	52429072		2042	4185	6227	SO:0001819	synonymous_variant	25981	0	0					g.chr3:52429072C>T	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.10965C>T	chr3.hg19:g.52429072C>T		0						p.P3655P	NM_015512.4	NP_056327	1	2	3	1.998468	Q9P2D7	DYH1_HUMAN		68	11226	+			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	1	1	hg19	c.10965C>T	CCDS46842.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-13.608680	1	0.170000	NM_015512			7	7		48	48	1		1	1		0	0	18	0		9.830393e-01	4.115515e-01	0	2	0	8	0	7	48
PHF7	51533	broad.mit.edu	37	3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000482327.1_3'UTR|PHF7_ENST00000347025.2_Missense_Mutation_p.F60V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	60						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443																																						ENST00000327906.3	1.000000	0.190000	5.100000e-01	2.600000e-01	0.360000	0.409769	0.360000	0.350000																										0				9						c.(178-180)Ttc>Gtc		PHD finger protein 7							109.0	109.0	109.0					3																	52448595		2203	4300	6503	SO:0001583	missense	51533	0	0					g.chr3:52448595T>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.178T>G	chr3.hg19:g.52448595T>G	ENSP00000333024:p.Phe60Val	0					PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	p.F60V	NM_016483.4	NP_057567.3	1	2	3	1.998468	Q9BWX1	PHF7_HUMAN		4	838	+			K4DI82	Missense_Mutation	SNP	ENST00000327906.3	1	1	hg19	c.178T>G	CCDS2854.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.134929|4.134929	0.77662|0.77662	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000454052|ENST00000461861	T;T;T|.	0.69040|.	-0.37;-0.37;-0.37|.	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.157115|.	0.56097|.	D|.	0.000022|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.81341|0.81341	2.54|2.54	0.46458|0.46458	D|D	0.999055|0.999055	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.76721|0.76721	-0.2855|-0.2855	10|5	0.31617|.	T|.	0.26|.	-19.9395|-19.9395	11.9004|11.9004	0.52680|0.52680	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;60|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|M	60;60;60;25|19	ENSP00000419316:F60V;ENSP00000333024:F60V;ENSP00000246282:F60V|.	ENSP00000333024:F60V|.	F|I	+|+	1|3	0|3	0|3	PHF7|PHF7	52423635|52423635	52423635|52423635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.582000|3.582000	0.53921|0.53921	2.071000|2.071000	0.62044|0.62044	0.460000|0.460000	0.39030|0.39030	TTC|ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-11.412330	1	0.170000	NM_016483			11	11		361	354	0		1	1		0	0	69	0		9.982120e-01	1.370788e-01	0	2	0	18	0	11	361
SEMA3G	56920	broad.mit.edu	37	3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	405	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637																																						ENST00000231721.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1213-1215)Ctg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							93.0	90.0	91.0					3																	52474045		2203	4300	6503	SO:0001583	missense	56920	0	0					g.chr3:52474045G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1213C>A	chr3.hg19:g.52474045G>T	ENSP00000231721:p.Leu405Met	0						p.L405M	NM_020163.1	NP_064548.1	1	2	3	1.998468	Q9NS98	SEM3G_HUMAN		11	1212	-			Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	1	1	hg19	c.1213C>A	CCDS2856.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749069	0.69533	.	.	ENSG00000010319	ENST00000231721	T	0.30981	1.51	5.13	3.32	0.38043	5.13	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000005	T	0.62282	0.2415	M	0.92507	3.315	0.44024	D	0.996745	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8658	0.52493	0.1436:0.0:0.8564:0.0	.	405	Q9NS98	SEM3G_HUMAN	M	405	ENSP00000231721:L405M	ENSP00000231721:L405M	L	-	1	2	2	SEMA3G	52449085	52449085	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.265000	0.51561	0.732000	0.32470	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_020163			99	99		377	371	1		1	0		0	0	83	0		1	7.861846e-01	0	0	0	13	0	99	377
SEMA3G	56920	broad.mit.edu	37	3	52475298	52475298	+	Silent	SNP	G	G	A	rs546731714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52475298G>A	ENST00000231721.2	-	7	794	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGGCCCACGCGGCTGACAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.001					ENST00000231721.2	1.000000	0.090000	3.400000e-01	1.500000e-01	0.220000	0.278812	0.220000	0.210000																										0				18						c.(793-795)cgC>cgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							62.0	48.0	52.0					3																	52475298		2203	4300	6503	SO:0001819	synonymous_variant	56920	19	121408	41				g.chr3:52475298G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.795C>T	chr3.hg19:g.52475298G>A		0						p.R265R	NM_020163.1	NP_064548.1	1	2	3	1.998468	Q9NS98	SEM3G_HUMAN		7	794	-			Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	0	1	hg19	c.795C>T	CCDS2856.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-6.799958	1	0.170000	NM_020163			7	7		387	384	0		1	0		0	0	80	0		9.801085e-01	1.795332e-02	0	0	0	10	0	7	387
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	TAGTCGATGCGGCCGTCGTTG	0.592																																						ENST00000232975.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R147C(1)	lung(1)	6						c.(439-441)Cgc>Tgc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)						188.0	137.0	154.0					3																	52485422		2203	4300	6503	SO:0001583	missense	7134	0	0					g.chr3:52485422G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.439C>T	chr3.hg19:g.52485422G>A	ENSP00000232975:p.Arg147Cys	0						p.R147C	NM_003280.2	NP_003271.1	1	2	3	1.998468	P63316	TNNC1_HUMAN		5	493	-			O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	1	1	hg19	c.439C>T	CCDS2857.1	1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	0	TNNC1	52460462	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-19.999880	1	0.170000				45	42		228	226	1		1	1		0	0	52	0		1	9.733973e-01	0	9	0	23	0	45	228
TNNC1	7134	broad.mit.edu	37	3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	127	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CTCCGTGATGGTCTCGCCTGT	0.587																																						ENST00000232975.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(379-381)aCc>aTc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)						166.0	129.0	142.0					3																	52485481		2203	4300	6503	SO:0001583	missense	7134	0	0					g.chr3:52485481G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.380C>T	chr3.hg19:g.52485481G>A	ENSP00000232975:p.Thr127Ile	0						p.T127I	NM_003280.2	NP_003271.1	1	2	3	1.998468	P63316	TNNC1_HUMAN		5	434	-			O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	1	1	hg19	c.380C>T	CCDS2857.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189317	0.57909	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	D;D	0.95171	-3.63;-3.63	5.58	3.76	0.43208	5.58	3.76	0.43208	EF-hand-like domain (1);	0.192979	0.56097	N	0.000035	D	0.88735	0.6517	N	0.19112	0.55	0.50813	D	0.999896	B	0.10296	0.003	B	0.13407	0.009	T	0.83351	-0.0003	10	0.87932	D	0	.	10.7971	0.46466	0.0682:0.0:0.8012:0.1306	.	127	P63316	TNNC1_HUMAN	I	127;83	ENSP00000232975:T127I;ENSP00000420596:T83I	ENSP00000232975:T127I	T	-	2	0	0	TNNC1	52460521	52460521	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.917000	0.48821	0.697000	0.31718	0.561000	0.74099	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1	1	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000				61	62		257	253	1		1	1		0	0	56	0		1	9.965598e-01	0	10	0	29	0	61	257
NISCH	11188	broad.mit.edu	37	3	52514216	52514216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52514216G>A	ENST00000479054.1	+	14	1505	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q|NISCH_ENST00000345716.4_Missense_Mutation_p.R478Q			Q9Y2I1	NISCH_HUMAN	nischarin	478	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				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)			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)	GAAGACTCCCGGCTCTCAGCT	0.637																																						ENST00000479054.1	1.000000	0.130000	3.500000e-01	1.800000e-01	0.250000	0.302222	0.250000	0.250000																										0				33						c.(1432-1434)cGg>cAg		nischarin	Tizanidine(DB00697)						80.0	77.0	78.0					3																	52514216		2203	4300	6503	SO:0001583	missense	11188	4	121412	39				g.chr3:52514216G>A	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.1433G>A	chr3.hg19:g.52514216G>A	ENSP00000418232:p.Arg478Gln	0					NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000345716.4_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q	p.R478Q			1	2	3	1.998468	Q9Y2I1	NISCH_HUMAN		14	1505	+			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	0	1	hg19	c.1433G>A	CCDS33767.1	0	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291776	0.59976	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08008	3.14;3.14;3.19;3.15	5.7	4.82	0.62117	5.7	4.82	0.62117	.	0.218004	0.38837	N	0.001547	T	0.14874	0.0359	L	0.32530	0.975	0.33533	D	0.593874	D;B	0.76494	0.999;0.123	P;B	0.61275	0.886;0.008	T	0.17228	-1.0376	10	0.31617	T	0.26	-24.7556	11.7287	0.51724	0.1419:0.0:0.8581:0.0	.	478;478	Q9Y2I1;C9J715	NISCH_HUMAN;.	Q	478	ENSP00000418232:R478Q;ENSP00000339958:R478Q;ENSP00000417812:R478Q;ENSP00000392484:R478Q	ENSP00000339958:R478Q	R	+	2	0	0	NISCH	52489256	52489256	1.000000	0.71417	0.990000	0.47175	0.061000	0.15899	2.423000	0.44705	1.424000	0.47217	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	0	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-2.827416	1	0.170000	NM_007184			13	13		615	603	0		1	1		0	0	114	0		9.994745e-01	9.107201e-01	0	5	0	196	0	13	615
NISCH	11188	broad.mit.edu	37	3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000479054.1	+	17	1903	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000345716.4_Missense_Mutation_p.R611W			Q9Y2I1	NISCH_HUMAN	nischarin	611	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				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)			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)	CACACTGATCCGGCAGGCCAT	0.647																																						ENST00000479054.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1831-1833)Cgg>Tgg		nischarin	Tizanidine(DB00697)						72.0	69.0	70.0					3																	52521339		2203	4300	6503	SO:0001583	missense	11188	0	0					g.chr3:52521339C>T	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.1831C>T	chr3.hg19:g.52521339C>T	ENSP00000418232:p.Arg611Trp	0					NISCH_ENST00000345716.4_Missense_Mutation_p.R611W	p.R611W			1	2	3	1.998468	Q9Y2I1	NISCH_HUMAN		17	1903	+			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	1	1	hg19	c.1831C>T	CCDS33767.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712228	0.30322	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.08370	3.1;3.1	5.57	3.62	0.41486	5.57	3.62	0.41486	.	0.591513	0.17374	N	0.176564	T	0.09686	0.0238	N	0.19112	0.55	0.30804	N	0.739515	D	0.89917	1.0	P	0.58577	0.841	T	0.10497	-1.0627	10	0.52906	T	0.07	-16.6294	3.0479	0.06160	0.1943:0.5162:0.1954:0.0941	.	611	Q9Y2I1	NISCH_HUMAN	W	611	ENSP00000418232:R611W;ENSP00000339958:R611W	ENSP00000339958:R611W	R	+	1	2	2	NISCH	52496379	52496379	0.980000	0.34600	0.997000	0.53966	0.030000	0.12068	1.052000	0.30429	1.372000	0.46190	-0.145000	0.13849	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-2.659169	1	0.170000	NM_007184			105	104		508	502	1		1	1		0	0	80	0		1	9.999996e-01	0	11	0	90	0	105	508
NISCH	11188	broad.mit.edu	37	3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000479054.1	+	17	2275	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000345716.4_Missense_Mutation_p.G735S			Q9Y2I1	NISCH_HUMAN	nischarin	735	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				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)			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)	CACCGACTTCGGCATCGCAGT	0.617																																						ENST00000479054.1	1.000000	0.310000	6.700000e-01	4.000000e-01	0.510000	0.549759	0.510000	0.500000																										0				33						c.(2203-2205)Ggc>Agc		nischarin	Tizanidine(DB00697)	G	SER/GLY	0,4406	2.1+/-5.4	0,0,2203	99.0	84.0	89.0		2203	5.3	1.0	3	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NISCH	NM_007184.3	56	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	735/1505	52521711	6,13000	2203	4300	6503	SO:0001583	missense	11188	31	121412	48				g.chr3:52521711G>A	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.2203G>A	chr3.hg19:g.52521711G>A	ENSP00000418232:p.Gly735Ser	0					NISCH_ENST00000345716.4_Missense_Mutation_p.G735S	p.G735S			1	2	3	1.998468	Q9Y2I1	NISCH_HUMAN		17	2275	+			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	1	1	hg19	c.2203G>A	CCDS33767.1	0	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044219	0.36085	0.0	6.98E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06528	3.29;3.29	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.201961	0.41294	D	0.000916	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49153	-0.8969	10	0.16420	T	0.52	-33.4656	9.2809	0.37727	0.0755:0.2673:0.6572:0.0	.	735	Q9Y2I1	NISCH_HUMAN	S	735;735;79	ENSP00000418232:G735S;ENSP00000339958:G735S	ENSP00000339958:G735S	G	+	1	0	0	NISCH	52496751	52496751	0.976000	0.34144	0.990000	0.47175	0.906000	0.53458	2.376000	0.44292	2.499000	0.84300	0.555000	0.69702	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.933293	1	0.170000	NM_007184			18	17		405	395	0		1	1		0	0	66	0		9.999784e-01	9.470383e-01	0	3	0	110	0	18	405
NISCH	11188	broad.mit.edu	37	3	52521950	52521950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000479054.1	+	17	2514	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000345716.4_Silent_p.Q814Q			Q9Y2I1	NISCH_HUMAN	nischarin	814	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				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)			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)	TTGCACCCCAGCACATGGCCA	0.612																																						ENST00000479054.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2440-2442)caG>caA		nischarin	Tizanidine(DB00697)						44.0	37.0	39.0					3																	52521950		2203	4300	6503	SO:0001819	synonymous_variant	11188	0	0					g.chr3:52521950G>A	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.2442G>A	chr3.hg19:g.52521950G>A		0					NISCH_ENST00000345716.4_Silent_p.Q814Q	p.Q814Q			1	2	3	1.998468	Q9Y2I1	NISCH_HUMAN		17	2514	+			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	1	1	hg19	c.2442G>A	CCDS33767.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_007184			44	43		154	150	1		1	1		0	0	35	0		1	1	0	10	0	127	0	44	154
NISCH	11188	broad.mit.edu	37	3	52526255	52526255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000479054.1	+	22	4344	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000345716.4_Silent_p.Q1424Q			Q9Y2I1	NISCH_HUMAN	nischarin	1424					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)			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)	TGGGCTACCAGACCTACCCGC	0.652																																						ENST00000479054.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(4270-4272)caG>caA		nischarin	Tizanidine(DB00697)						112.0	109.0	110.0					3																	52526255		2203	4298	6501	SO:0001819	synonymous_variant	11188	0	0					g.chr3:52526255G>A	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.4272G>A	chr3.hg19:g.52526255G>A		0					NISCH_ENST00000345716.4_Silent_p.Q1424Q	p.Q1424Q			1	2	3	1.998468	Q9Y2I1	NISCH_HUMAN		22	4344	+			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	1	1	hg19	c.4272G>A	CCDS33767.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	0	0	1		20	4	2	1		1	1	194		194	191	1	2.060000	-20.000000	1	0.170000	NM_007184			237	235		928	918	1		1	1		1	0	194	0		1	1	0	21	0	100	0	237	928
STAB1	23166	broad.mit.edu	37	3	52538065	52538065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	ENST00000321725.6	+	10	1120	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	348					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGAAAGCGAGGTGGGGGATG	0.711																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				76						c.(1042-1044)gaG>gaT		stabilin 1							26.0	21.0	23.0					3																	52538065		2193	4290	6483	SO:0001583	missense	23166	0	0					g.chr3:52538065G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1044G>T	chr3.hg19:g.52538065G>T	ENSP00000312946:p.Glu348Asp	0						p.E348D	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		10	1120	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.1044G>T	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688096	0.29962	.	.	ENSG00000010327	ENST00000321725	T	0.20069	2.1	4.7	2.85	0.33270	4.7	2.85	0.33270	FAS1 domain (1);	0.144064	0.46758	D	0.000268	T	0.31482	0.0798	M	0.66939	2.045	0.33620	D	0.604698	P;D	0.56746	0.943;0.977	P;P	0.55749	0.459;0.783	T	0.44436	-0.9328	10	0.46703	T	0.11	.	6.6079	0.22735	0.2166:0.0:0.7834:0.0	.	348;348	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	D	348	ENSP00000312946:E348D	ENSP00000312946:E348D	E	+	3	2	2	STAB1	52513105	52513105	1.000000	0.71417	0.994000	0.49952	0.597000	0.36814	1.692000	0.37731	1.101000	0.41535	0.462000	0.41574	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_015136			19	19		56	56	1		1	0		0	0	14	0		9.999968e-01	9.997811e-01	0	0	0	47	0	19	56
STAB1	23166	broad.mit.edu	37	3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	514	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGATCCTCGCCTCTACCGA	0.622																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1540-1542)Gcc>Acc		stabilin 1							51.0	50.0	50.0					3																	52539356		2203	4300	6503	SO:0001583	missense	23166	1	121382	32				g.chr3:52539356G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1540G>A	chr3.hg19:g.52539356G>A	ENSP00000312946:p.Ala514Thr	0						p.A514T	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		14	1616	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.1540G>A	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134423	0.56828	.	.	ENSG00000010327	ENST00000321725	T	0.72394	-0.65	5.36	4.47	0.54385	5.36	4.47	0.54385	FAS1 domain (3);	0.220722	0.36740	N	0.002428	T	0.71290	0.3322	L	0.50993	1.605	0.37281	D	0.90782	B;D	0.61697	0.394;0.99	B;P	0.51297	0.078;0.665	T	0.73895	-0.3838	10	0.34782	T	0.22	.	12.5123	0.56013	0.0:0.0:0.8324:0.1676	.	514;514	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	514	ENSP00000312946:A514T	ENSP00000312946:A514T	A	+	1	0	0	STAB1	52514396	52514396	0.997000	0.39634	0.855000	0.33649	0.462000	0.32619	3.469000	0.53093	1.236000	0.43740	0.585000	0.79938	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_015136			35	35		137	136	1		1	0		0	0	41	0		1	9.997233e-01	0	0	0	53	0	35	137
STAB1	23166	broad.mit.edu	37	3	52540865	52540865	+	Splice_Site	SNP	C	C	T	rs150932374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	663					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGATTGTGGCGGTGAGCCTC	0.647																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1987-1989)gCg>gTg		stabilin 1							59.0	53.0	55.0					3																	52540865		2203	4300	6503	SO:0001630	splice_region_variant	23166	0	0					g.chr3:52540865C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1989+1C>T	chr3.hg19:g.52540865C>T		0						p.A663V	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		18	2064	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	1	0	hg19	c.1988C>T	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375587	0.24857	.	.	ENSG00000010327	ENST00000321725	D	0.84730	-1.89	4.43	-7.21	0.01490	4.43	-7.21	0.01490	.	1.696930	0.03084	N	0.158847	T	0.68668	0.3026	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.0;0.003	T	0.43861	-0.9365	10	0.13470	T	0.59	.	8.5153	0.33242	0.1101:0.2287:0.0:0.6612	.	663;663	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	663	ENSP00000312946:A663V	ENSP00000312946:A663V	A	+	2	0	0	STAB1	52515905	52515905	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.219000	0.01218	-1.598000	0.01607	-0.448000	0.05591	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-1.495495	0	0.170000	NM_015136	Missense_Mutation		67	65		264	253	1		1	0		0	0	55	0		1	9.999791e-01	0	0	0	65	0	67	264
STAB1	23166	broad.mit.edu	37	3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	726					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTTTTTCGGGCCTGACTGC	0.582																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2176-2178)gGg>gAg		stabilin 1							119.0	115.0	116.0					3																	52542317		2203	4300	6503	SO:0001583	missense	23166	0	0					g.chr3:52542317G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2177G>A	chr3.hg19:g.52542317G>A	ENSP00000312946:p.Gly726Glu	0						p.G726E	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		21	2253	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.2177G>A	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027530	0.93518	.	.	ENSG00000010327	ENST00000321725	D	0.87029	-2.2	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96418	0.9309	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	726;726	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	726	ENSP00000312946:G726E	ENSP00000312946:G726E	G	+	2	0	0	STAB1	52517357	52517357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.247000	0.89830	2.697000	0.92050	0.563000	0.77884	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	82		82	83	1	2.060000	-20.000000	1	0.170000	NM_015136			72	70		362	356	1		1	0		0	0	82	0		1	9.997409e-01	0	0	0	63	0	72	362
STAB1	23166	broad.mit.edu	37	3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	779					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATGGAGAGCAATGCCAGGA	0.577																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				76						c.(2335-2337)Caa>Taa		stabilin 1							84.0	69.0	74.0					3																	52543325		2202	4300	6502	SO:0001587	stop_gained	23166	0	0					g.chr3:52543325C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2335C>T	chr3.hg19:g.52543325C>T	ENSP00000312946:p.Gln779*	0						p.Q779*	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		22	2411	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	0	1	hg19	c.2335C>T	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.697297	0.96802	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.57	4.68	0.58851	5.57	4.68	0.58851	.	0.551778	0.18049	N	0.153326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.8752	0.35340	0.2981:0.5574:0.1445:0.0	.	.	.	.	X	779	.	ENSP00000312946:Q779X	Q	+	1	0	0	STAB1	52518365	52518365	0.995000	0.38212	0.954000	0.39281	0.441000	0.31987	4.142000	0.58044	1.316000	0.45131	0.561000	0.74099	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	44		44	39	1	2.060000	-20.000000	1	0.170000	NM_015136			31	30		150	147	1		1	0		0	0	44	0		1	9.999674e-01	0	0	0	82	0	31	150
STAB1	23166	broad.mit.edu	37	3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1433	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCGTGCAGGACTCGGCCGG	0.682																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(4297-4299)Gac>Aac		stabilin 1							23.0	27.0	26.0					3																	52550718		2202	4299	6501	SO:0001583	missense	23166	0	0					g.chr3:52550718G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4297G>A	chr3.hg19:g.52550718G>A	ENSP00000312946:p.Asp1433Asn	0						p.D1433N	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		41	4373	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.4297G>A	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541032	0.00934	.	.	ENSG00000010327	ENST00000321725	T	0.02944	4.1	4.51	1.36	0.22044	4.51	1.36	0.22044	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.333636	0.30979	N	0.008492	T	0.01940	0.0061	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49995	-0.8879	10	0.02654	T	1	.	7.1225	0.25453	0.3219:0.0:0.6781:0.0	.	1433	Q9NY15	STAB1_HUMAN	N	1433	ENSP00000312946:D1433N	ENSP00000312946:D1433N	D	+	1	0	0	STAB1	52525758	52525758	0.005000	0.15991	0.098000	0.21074	0.164000	0.22412	1.182000	0.32029	0.033000	0.15463	0.462000	0.41574	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_015136			33	32		133	130	1		1	0		0	0	35	0		1	9.999956e-01	0	0	0	83	0	33	133
STAB1	23166	broad.mit.edu	37	3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A	rs369575212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1772	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCCTTTCGAGCTCTGCCT	0.627																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999905	0.990000	1.000000																										0				76						c.(5314-5316)cGa>cAa		stabilin 1		G	GLN/ARG	0,4406		0,0,2203	56.0	58.0	57.0		5315	-8.2	0.0	3		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1772/2571	52554039	1,13005	2203	4300	6503	SO:0001583	missense	23166	4	121332	34				g.chr3:52554039G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5315G>A	chr3.hg19:g.52554039G>A	ENSP00000312946:p.Arg1772Gln	0						p.R1772Q	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		51	5391	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.5315G>A	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196156	0.01594	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.89617	-2.54	5.67	-8.25	0.01025	5.67	-8.25	0.01025	FAS1 domain (5);	1.077420	0.07224	N	0.861373	T	0.71056	0.3295	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65747	-0.6093	10	0.02654	T	1	.	18.2521	0.90007	0.3326:0.0:0.6674:0.0	.	1772	Q9NY15	STAB1_HUMAN	Q	1772	ENSP00000312946:R1772Q	ENSP00000312946:R1772Q	R	+	2	0	0	STAB1	52529079	52529079	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-0.792000	0.04594	-1.389000	0.02090	-1.008000	0.02478	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.224442	1	0.170000	NM_015136			36	34		224	219	1		1	0		0	0	61	0		1	9.999681e-01	0	0	0	101	0	36	224
STAB1	23166	broad.mit.edu	37	3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A	rs374832817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2236	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGAGCCGTCCTTGCTTC	0.617																																						ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(6706-6708)Gtc>Atc		stabilin 1		G	ILE/VAL	0,4404		0,0,2202	67.0	71.0	70.0		6706	4.9	0.3	3		70	2,8596	2.2+/-6.3	0,2,4297	no	missense	STAB1	NM_015136.2	29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign	2236/2571	52556666	2,13000	2202	4299	6501	SO:0001583	missense	23166	5	121400	40				g.chr3:52556666G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6706G>A	chr3.hg19:g.52556666G>A	ENSP00000312946:p.Val2236Ile	0						p.V2236I	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		61	6782	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.6706G>A	CCDS33768.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660584	0.47572	0.0	2.33E-4	ENSG00000010327	ENST00000321725	T	0.30714	1.52	5.85	4.93	0.64822	5.85	4.93	0.64822	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.903033	0.09601	N	0.780141	T	0.31040	0.0784	L	0.39514	1.22	0.09310	N	1	P;D	0.54772	0.862;0.968	B;P	0.45971	0.176;0.499	T	0.09530	-1.0670	10	0.39692	T	0.17	.	10.4845	0.44713	0.0728:0.1362:0.791:0.0	.	123;2236	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2236	ENSP00000312946:V2236I	ENSP00000312946:V2236I	V	+	1	0	0	STAB1	52531706	52531706	0.000000	0.05858	0.269000	0.24586	0.376000	0.30014	0.803000	0.27083	2.771000	0.95319	0.561000	0.74099	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	103		103	101	1	2.060000	-3.573391	1	0.170000	NM_015136			120	120		489	480	1		1	0		0	0	103	0		1	1	0	0	0	117	0	120	489
STAB1	23166	broad.mit.edu	37	3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A	rs184802643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2301	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCTTCCGTGTGCAAGGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(6901-6903)cGt>cAt		stabilin 1							80.0	84.0	83.0					3																	52556948		2203	4300	6503	SO:0001583	missense	23166	1	121408	31				g.chr3:52556948G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6902G>A	chr3.hg19:g.52556948G>A	ENSP00000312946:p.Arg2301His	0						p.R2301H	NM_015136.2	NP_055951.2	1	2	3	1.998468	Q9NY15	STAB1_HUMAN		62	6978	+			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	1	1	hg19	c.6902G>A	CCDS33768.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.1	4.496293	0.85069	.	.	ENSG00000010327	ENST00000321725	T	0.31769	1.48	5.64	5.64	0.86602	5.64	5.64	0.86602	C-type lectin fold (1);Link (2);C-type lectin-like (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86178	2.8	0.49687	D	0.999818	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.67461	-0.5665	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	188;2301	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2301	ENSP00000312946:R2301H	ENSP00000312946:R2301H	R	+	2	0	0	STAB1	52531988	52531988	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	5.696000	0.68287	2.661000	0.90470	0.486000	0.48141	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_015136			78	76		399	392	1		1	0		0	0	96	0		1	1	0	0	0	141	0	78	399
NT5DC2	64943	broad.mit.edu	37	3	52558576	52558576	+	Silent	SNP	C	C	T	rs374723543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000459839.1_Silent_p.P503P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064). {ECO:0000305}.			hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627																																						ENST00000307076.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1471-1473)ccG>ccA		5'-nucleotidase domain containing 2							73.0	71.0	72.0					3																	52558576		2203	4300	6503	SO:0001819	synonymous_variant	64943	3	121362	34				g.chr3:52558576C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1473G>A	chr3.hg19:g.52558576C>T		0					NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000459839.1_Silent_p.P503P|NT5DC2_ENST00000422318.2_Silent_p.P528P	p.P491P	NM_022908.2	NP_075059.1	1	2	3	1.998468	Q9H857	NT5D2_HUMAN		14	1873	-			C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	1	1	hg19	c.1473G>A	CCDS2858.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.260414	1	0.170000	NM_022908			83	81		393	388	1		1	1		0	0	80	0		1	1	0	45	0	263	0	83	393
NT5DC2	64943	broad.mit.edu	37	3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	335							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592																																						ENST00000307076.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				6						c.(1003-1005)Cgg>Tgg		5'-nucleotidase domain containing 2							97.0	96.0	96.0					3																	52561315		2203	4300	6503	SO:0001583	missense	64943	2	121396	31				g.chr3:52561315G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1003C>T	chr3.hg19:g.52561315G>A	ENSP00000302468:p.Arg335Trp	0					NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W	p.R335W	NM_022908.2	NP_075059.1	1	2	3	1.998468	Q9H857	NT5D2_HUMAN		10	1403	-			C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	1	1	hg19	c.1003C>T	CCDS2858.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133453|4.133453	0.77662|0.77662	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839|ENST00000489316	T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92|.	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.052775|.	0.64402|.	D|.	0.000001|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.40543|0.40543	1.245|1.245	0.35708|0.35708	D|D	0.816193|0.816193	D;D;D|.	0.57899|.	0.981;0.981;0.981|.	P;B;B|.	0.56788|.	0.806;0.401;0.401|.	T|T	0.59037|0.59037	-0.7529|-0.7529	10|5	0.38643|.	T|.	0.18|.	-25.4436|-25.4436	12.4633|12.4633	0.55743|0.55743	0.0:0.0:0.7183:0.2817|0.0:0.0:0.7183:0.2817	.|.	347;335;372|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	W|L	276;49;335;372;347|256	ENSP00000306017:R276W;ENSP00000418780:R49W;ENSP00000302468:R335W;ENSP00000406933:R372W;ENSP00000419547:R347W|.	ENSP00000302468:R335W|.	R|S	-|-	1|2	2|0	2|0	NT5DC2|NT5DC2	52536355|52536355	52536355|52536355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	4.461000|4.461000	0.60115|0.60115	2.580000|2.580000	0.87095|0.87095	0.555000|0.555000	0.69702|0.69702	CGG|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	1		2	2	2	0		0	0	49		49	47	1	2.060000	-3.159335	1	0.170000	NM_022908			33	33		185	181	1		1	1		0	0	49	0		1	1	0	51	0	291	0	33	185
NT5DC2	64943	broad.mit.edu	37	3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SMIM4_ENST00000482728.1_3'UTR|SMIM4_ENST00000476842.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|SMIM4_ENST00000477703.1_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000307106.3_5'Flank|NT5DC2_ENST00000459839.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	10							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATTCCTCTTTCCTGCGCAGAA	0.592																																						ENST00000307076.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(28-30)Gaa>Taa		5'-nucleotidase domain containing 2							155.0	157.0	156.0					3																	52568642		2203	4300	6503	SO:0001587	stop_gained	64943	0	0					g.chr3:52568642C>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.28G>T	chr3.hg19:g.52568642C>A	ENSP00000302468:p.Glu10*	0					SMIM4_ENST00000477703.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000307106.3_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000476842.1_5'Flank	p.E10*	NM_022908.2	NP_075059.1	1	2	3	1.998468	Q9H857	NT5D2_HUMAN		1	428	-			C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Nonsense_Mutation	SNP	ENST00000307076.4	0	1	hg19	c.28G>T	CCDS2858.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477394	0.84640	.	.	ENSG00000168268	ENST00000307076	.	.	.	3.04	-1.54	0.08584	3.04	-1.54	0.08584	.	6.254030	0.01781	U	0.031789	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.7943	0.23717	0.0:0.3955:0.0:0.6045	.	.	.	.	X	10	.	ENSP00000302468:E10X	E	-	1	0	0	NT5DC2	52543682	52543682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.461000	0.02366	-0.387000	0.07809	-0.253000	0.11424	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	1		2	2	2	0		0	0	166		166	165	1	2.060000	-20.000000	1	0.170000	NM_022908			219	213		823	811	0		1	0		0	0	166	0		1	9.297707e-01	0	0	0	19	0	219	823
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000296302.7	-	20	3287	c.3286C>T	c.(3286-3288)Cgc>Tgc	p.R1096C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C			Q86U86	PB1_HUMAN	polybromo 1	1096					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)			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)		GAGGCCACGCGAACCACAGGC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000296302.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		3	3p21	3p21	55193	Mis, N, F, S, D, O	polybromo 1				E	E			clear cell renal carcinoma, breast		0				335						c.(3286-3288)Cgc>Tgc		polybromo 1							113.0	111.0	112.0					3																	52620542		2203	4300	6503	SO:0001583	missense	55193	0	0					g.chr3:52620542G>A	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.3286C>T	chr3.hg19:g.52620542G>A	ENSP00000296302:p.Arg1096Cys	0					PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C	p.R1096C			1	2	3	1.998468	Q86U86	PB1_HUMAN		20	3287	-			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	1	1	hg19	c.3286C>T		1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743073	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.52754	0.8;0.68;0.83;0.83;0.81;0.71;1.27;0.84;0.8;0.65	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.52905	1.665	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	0.85130	0.997;0.995;0.992;0.995;0.989;0.997;0.995;0.995;0.993	T	0.66803	-0.5831	10	0.87932	D	0	-27.3744	15.1515	0.72703	0.0:0.0:0.8583:0.1417	.	1071;1095;1071;1096;1111;1111;1096;1064;1096	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	1064;1071;1096;1096;1096;1071;1111;1111;1095;1054	ENSP00000349213:R1064C;ENSP00000378307:R1071C;ENSP00000296302:R1096C;ENSP00000338302:R1096C;ENSP00000386593:R1096C;ENSP00000386529:R1071C;ENSP00000386643:R1111C;ENSP00000386601:R1111C;ENSP00000387775:R1095C;ENSP00000397662:R1054C	ENSP00000296302:R1096C	R	-	1	0	0	PBRM1	52595582	52595582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.608000	0.74168	2.493000	0.84123	0.555000	0.69702	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_018165			127	125		470	462	1		1	1	1	0	0	115	1277		1	9.971652e-01	1	6	238	29	1070	127	470
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000296302.7	-	17	2627	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876					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)			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)		AGTTCATCACGAATTTTAATA	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000296302.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000				Rec	yes			Rec	yes		3	3p21	3p21	55193	Mis, N, F, S, D, O	polybromo 1				E	E			clear cell renal carcinoma, breast		0				335						c.(2626-2628)Cgt>Tgt		polybromo 1							66.0	63.0	64.0					3																	52637690		2203	4300	6503	SO:0001583	missense	55193	0	0					g.chr3:52637690G>A	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.2626C>T	chr3.hg19:g.52637690G>A	ENSP00000296302:p.Arg876Cys	0					PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C	p.R876C			1	2	3	1.998468	Q86U86	PB1_HUMAN		17	2627	-			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	1	1	hg19	c.2626C>T		1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60920	0.16;0.2;0.15;0.16;0.17;0.17;0.63;0.17;0.21;0.28	5.72	5.72	0.89469	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:0.0:1.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844C;ENSP00000378307:R876C;ENSP00000296302:R876C;ENSP00000338302:R876C;ENSP00000386593:R876C;ENSP00000386529:R876C;ENSP00000386643:R891C;ENSP00000386601:R891C;ENSP00000387775:R876C;ENSP00000397662:R835C	ENSP00000296302:R876C	R	-	1	0	0	PBRM1	52612730	52612730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.850000	0.98022	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-16.860620	1	0.170000	NM_018165			30	30		159	158	1		1	0	1	0	0	34	566		1	9.844220e-01	1	1	154	37	621	30	159
ITIH1	3697	broad.mit.edu	37	3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A|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	210					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)			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)		TGCCCAGGCCTCTTTCCTGCC	0.483																																						ENST00000273283.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(628-630)Tct>Gct		inter-alpha-trypsin inhibitor heavy chain 1							41.0	42.0	42.0					3																	52814339		2203	4300	6503	SO:0001583	missense	3697	0	0					g.chr3:52814339T>G		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.628T>G	chr3.hg19:g.52814339T>G	ENSP00000273283:p.Ser210Ala	0					ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	p.S210A	NM_002215.3	NP_002206.2	1	2	3	1.998468	P19827	ITIH1_HUMAN		6	652	+			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	1	1	hg19	c.628T>G	CCDS2864.1	1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360543	0.61403	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.84;4.72	6.07	-4.65	0.03339	6.07	-4.65	0.03339	.	0.193262	0.53938	D	0.000043	T	0.03827	0.0108	M	0.69823	2.125	0.80722	D	1	B	0.30542	0.284	B	0.36845	0.234	T	0.33111	-0.9881	10	0.66056	D	0.02	-15.0808	4.8638	0.13598	0.3522:0.3161:0.0:0.3317	.	210	P19827	ITIH1_HUMAN	A	210;210;68	ENSP00000442584:S210A;ENSP00000273283:S210A;ENSP00000443973:S68A	ENSP00000273283:S210A	S	+	1	0	0	ITIH1	52789379	52789379	0.887000	0.30362	0.992000	0.48379	0.710000	0.40934	0.402000	0.20965	-0.299000	0.08909	-0.274000	0.10170	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	1	0	1		2	2	2	0		0	0	35		35	33	1	2.060000	-19.915880	1	0.170000	NM_002215			33	33		134	129	1		1	0		0	0	35	0		1	0	0	0	0	1	0	33	134
ITIH3	3699	broad.mit.edu	37	3	52830660	52830660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52830660C>T	ENST00000449956.2	+	3	284	c.278C>T	c.(277-279)aCc>aTc	p.T93I	ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	93	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCAACTTCACCTTGTGGGTA	0.582																																						ENST00000449956.2	1.000000	0.160000	7.800000e-01	2.900000e-01	0.480000	0.526188	0.480000	1.000000																										0				25						c.(277-279)aCc>aTc		inter-alpha-trypsin inhibitor heavy chain 3							55.0	61.0	59.0					3																	52830660		2141	4280	6421	SO:0001583	missense	3699	0	0					g.chr3:52830660C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.278C>T	chr3.hg19:g.52830660C>T	ENSP00000415769:p.Thr93Ile	0					ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	p.T93I	NM_002217.3	NP_002208.3	1	2	3	1.998468	Q06033	ITIH3_HUMAN		3	284	+			Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	0	1	hg19	c.278C>T	CCDS46845.1	0	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062182	0.76187	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23950	1.88;1.88	4.79	4.79	0.61399	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.047355	0.85682	D	0.000000	T	0.40719	0.1128	L	0.45470	1.425	0.43242	D	0.995154	D;P	0.61080	0.989;0.902	P;P	0.61003	0.882;0.716	T	0.20739	-1.0266	10	0.66056	D	0.02	-28.0532	14.8603	0.70376	0.0:1.0:0.0:0.0	.	93;93	E7ET33;Q06033	.;ITIH3_HUMAN	I	93;93;88;93;93	ENSP00000413922:T93I;ENSP00000415769:T93I	ENSP00000273291:T88I	T	+	2	0	0	ITIH3	52805700	52805700	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.596000	0.36718	2.478000	0.83669	0.561000	0.74099	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-7.501455	1	0.170000	NM_002217			4	4		107	105	0		1	0		0	0	22	0		8.873997e-01	6.702983e-03	0	0	0	3	0	4	107
ITIH3	3699	broad.mit.edu	37	3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	167					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGGCAAGTACGAGATGTAC	0.562																																						ENST00000449956.2	1.000000	0.430000	1	6.700000e-01	0.990000	0.879640	0.990000	1.000000																										0				25						c.(499-501)tAc>tGc		inter-alpha-trypsin inhibitor heavy chain 3							47.0	54.0	52.0					3																	52831234		2103	4215	6318	SO:0001583	missense	3699	0	0					g.chr3:52831234A>G		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.500A>G	chr3.hg19:g.52831234A>G	ENSP00000415769:p.Tyr167Cys	0					ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	p.Y167C	NM_002217.3	NP_002208.3	1	2	3	1.998468	Q06033	ITIH3_HUMAN		5	506	+			Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	0	1	hg19	c.500A>G	CCDS46845.1	1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353441	0.82243	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.04156	3.69;4.24	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.91561	3.22	0.49389	D	0.999783	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08411	-1.0723	10	0.72032	D	0.01	-27.3236	13.0967	0.59197	1.0:0.0:0.0:0.0	.	167;167	E7ET33;Q06033	.;ITIH3_HUMAN	C	167;155;162;167;167	ENSP00000413922:Y167C;ENSP00000415769:Y167C	ENSP00000273291:Y162C	Y	+	2	0	0	ITIH3	52806274	52806274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.279000	0.76181	0.533000	0.62120	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-11.446650	1	0.170000	NM_002217			6	6		67	66	0		1	0		0	0	20	0		9.656645e-01	2.717703e-02	0	0	0	3	0	6	67
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877754C>T	ENST00000355083.5	-	6	746	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TMEM110_ENST00000464769.1_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	201						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		AAGAAGGGGACGATCAGCATG	0.507																																						ENST00000355083.5	1.000000	0.140000	4.000000e-01	2.000000e-01	0.280000	0.328445	0.280000	0.260000																										0				4						c.(601-603)Gtc>Atc		transmembrane protein 110							190.0	167.0	175.0					3																	52877754		2203	4300	6503	SO:0001583	missense	375346	0	0					g.chr3:52877754C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.601G>A	chr3.hg19:g.52877754C>T	ENSP00000347195:p.Val201Ile	0					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I|TMEM110_ENST00000464769.1_5'Flank	p.V201I	NM_198563.2	NP_940965.1	1	2	3	1.998468	Q86TL2	TM110_HUMAN		6	746	-				Missense_Mutation	SNP	ENST00000355083.5	0	1	hg19	c.601G>A	CCDS2866.1	0	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473451	0.84640	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.145281	0.45126	U	0.000381	T	0.66790	0.2825	L	0.39692	1.235	0.80722	D	1	P;D	0.76494	0.797;0.999	B;D	0.79784	0.194;0.993	T	0.58752	-0.7581	9	0.09843	T	0.71	-14.7227	18.9788	0.92747	0.0:1.0:0.0:0.0	.	201;201	Q86TL2;A8MSY1	TM110_HUMAN;.	I	201	.	ENSP00000347195:V201I	V	-	1	0	0	TMEM110-MUSTN1;TMEM110	52852794	52852794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.491000	0.84063	0.561000	0.74099	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	0	0	0		2	2	2	0		0	0	137		137	137	1	2.060000	-3.028101	1	0.170000	NM_198563			10	9		434	419	0		1	1		0	0	137	0		9.963337e-01	7.804074e-01	0	2	0	124	0	10	434
TMEM110	375346	broad.mit.edu	37	3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110_ENST00000464769.1_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	194						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACGATGGCCAGCTTCAAGTCT	0.532																																						ENST00000355083.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(580-582)Ctg>Atg		transmembrane protein 110							178.0	157.0	164.0					3																	52877775		2203	4300	6503	SO:0001583	missense	375346	0	0					g.chr3:52877775G>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.580C>A	chr3.hg19:g.52877775G>T	ENSP00000347195:p.Leu194Met	0					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M|TMEM110_ENST00000464769.1_5'Flank	p.L194M	NM_198563.2	NP_940965.1	1	2	3	1.998468	Q86TL2	TM110_HUMAN		6	725	-				Missense_Mutation	SNP	ENST00000355083.5	1	0	hg19	c.580C>A	CCDS2866.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328120	0.81690	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	4.44	0.53790	5.31	4.44	0.53790	.	0.000000	0.64402	U	0.000003	T	0.81074	0.4747	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84463	0.0595	9	0.72032	D	0.01	-7.9897	14.0255	0.64584	0.073:0.0:0.927:0.0	.	194;194	Q86TL2;A8MSY1	TM110_HUMAN;.	M	194	.	ENSP00000347195:L194M	L	-	1	2	2	TMEM110-MUSTN1;TMEM110	52852815	52852815	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	2.107000	0.41844	1.242000	0.43836	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	1	0	0		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_198563			79	76		340	331	0		1	1		0	0	135	0		1	1	0	31	0	94	0	79	340
SFMBT1	51460	broad.mit.edu	37	3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	405					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)			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)		TGCAGTGATGGTAGCAACACA	0.493																																						ENST00000394752.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1213-1215)aCc>aTc		Scm-like with four mbt domains 1							178.0	172.0	174.0					3																	52955765		2203	4300	6503	SO:0001583	missense	51460	0	0					g.chr3:52955765G>A	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.1214C>T	chr3.hg19:g.52955765G>A	ENSP00000378235:p.Thr405Ile	0					SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I	p.T405I	NM_016329.3	NP_057413.2	1	2	3	1.998468	Q9UHJ3	SMBT1_HUMAN		11	1596	-			Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	1	1	hg19	c.1214C>T	CCDS2867.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333359	0.81801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.053289	0.85682	D	0.000000	T	0.77968	0.4210	M	0.93720	3.45	0.58432	D	0.999999	P;D	0.57257	0.948;0.979	P;P	0.58660	0.66;0.843	T	0.83142	-0.0108	10	0.62326	D	0.03	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	405;405	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	405	ENSP00000378235:T405I;ENSP00000350789:T405I;ENSP00000296295:T405I;ENSP00000378233:T405I	ENSP00000296295:T405I	T	-	2	0	0	SFMBT1	52930805	52930805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	1	0	1		2	2	2	0		0	0	240		240	237	1	2.060000	-20.000000	1	0.170000	NM_016329			181	178		780	768	1		1	1		0	0	240	0		1	9.809487e-01	0	7	0	22	0	181	780
PRKCD	5580	broad.mit.edu	37	3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|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)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTACTTTGCCATCAAGGCCCT	0.597																																						ENST00000394729.2	1.000000	0.280000	8.200000e-01	4.100000e-01	0.580000	0.610042	0.580000	1.000000																										0				26						c.(1129-1131)Atc>Gtc		protein kinase C, delta	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)						106.0	94.0	98.0					3																	53220225		2203	4300	6503	SO:0001583	missense	5580	0	0					g.chr3:53220225A>G		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1129A>G	chr3.hg19:g.53220225A>G	ENSP00000378217:p.Ile377Val	0					PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	p.I377V	NM_212539.1	NP_997704.1	1	2	3	1.998468	Q05655	KPCD_HUMAN		12	1457	+		Ovarian(412;0.0728)	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	1	1	hg19	c.1129A>G	CCDS2870.1	0	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.23147	1.92;1.92	5.15	-5.74	0.02391	5.15	-5.74	0.02391	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.337088	0.34853	N	0.003637	T	0.10594	0.0259	N	0.12611	0.24	0.25272	N	0.989504	B	0.10296	0.003	B	0.12837	0.008	T	0.24584	-1.0156	10	0.06099	T	0.92	.	16.4546	0.84008	0.4405:0.0:0.5595:0.0	.	377	Q05655	KPCD_HUMAN	V	377	ENSP00000378217:I377V;ENSP00000331602:I377V	ENSP00000331602:I377V	I	+	1	0	0	PRKCD	53195265	53195265	0.000000	0.05858	0.005000	0.12908	0.697000	0.40408	-0.023000	0.12456	-1.520000	0.01773	-1.431000	0.01090	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-11.731920	1	0.170000				9	8		185	178	0		1	1		0	0	42	0		9.933922e-01	9.992630e-01	0	21	0	264	0	9	185
PRKCD	5580	broad.mit.edu	37	3	53220652	53220652	+	Silent	SNP	C	C	T	rs377107086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220652C>T	ENST00000394729.2	+	13	1621	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	PRKCD_ENST00000330452.3_Silent_p.N431N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|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)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACC	0.607																																						ENST00000394729.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1291-1293)aaC>aaT		protein kinase C, delta	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	C	,	1,4405	2.1+/-5.4	0,1,2202	217.0	223.0	221.0		1293,1293	-8.5	0.4	3		221	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKCD	NM_006254.3,NM_212539.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	431/677,431/677	53220652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5580	7	121412	45				g.chr3:53220652C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1293C>T	chr3.hg19:g.53220652C>T		0					PRKCD_ENST00000330452.3_Silent_p.N431N	p.N431N	NM_212539.1	NP_997704.1	1	2	3	1.998468	Q05655	KPCD_HUMAN		13	1621	+		Ovarian(412;0.0728)	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	1	0	hg19	c.1293C>T	CCDS2870.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	1		2	2	2	0		0	0	385		385	383	1	2.060000	-2.101553	0	0.170000				268	263		1329	1291	0		1	1		0	0	385	0		1	1	0	56	0	151	0	268	1329
TKT	7086	broad.mit.edu	37	3	53265481	53265481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I			P29401	TKT_HUMAN	transketolase	278					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TTTTGCTCTGGATCTGGCTGT	0.552																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(832-834)atC>atT		transketolase							159.0	130.0	140.0					3																	53265481		2203	4300	6503	SO:0001819	synonymous_variant	7086	0	0					g.chr3:53265481G>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.834C>T	chr3.hg19:g.53265481G>A		0					TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000296289.6_Silent_p.I231I	p.I278I			1	2	3	1.998468	P29401	TKT_HUMAN		7	922	-		Prostate(884;0.0959)	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	1	1	hg19	c.834C>T	CCDS2871.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				51	49		223	218	1		1	1		0	0	63	0		1	1	0	282	0	598	0	51	223
TKT	7086	broad.mit.edu	37	3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y			P29401	TKT_HUMAN	transketolase	256					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCCATGCCAAGACTCCTTATC	0.562																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				17						c.(766-768)tCt>tAt		transketolase							94.0	83.0	87.0					3																	53265548		2203	4300	6503	SO:0001583	missense	7086	0	0					g.chr3:53265548G>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.767C>A	chr3.hg19:g.53265548G>T	ENSP00000417773:p.Ser256Tyr	0					TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000296289.6_Missense_Mutation_p.S209Y	p.S256Y			1	2	3	1.998468	P29401	TKT_HUMAN		7	855	-		Prostate(884;0.0959)	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	1	1	hg19	c.767C>A	CCDS2871.1	1	.	.	.	.	.	.	.	.	.	.	G	4.436	0.080646	0.08533	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.69	2.94	0.34122	5.69	2.94	0.34122	Transketolase, N-terminal (1);	1.130530	0.06411	N	0.720678	T	0.39911	0.1096	M	0.70842	2.15	0.09310	N	1	P;B;B	0.36354	0.549;0.014;0.014	B;B;B	0.43478	0.421;0.043;0.027	T	0.37572	-0.9700	10	0.72032	D	0.01	-11.315	4.1666	0.10310	0.0692:0.2428:0.3554:0.3326	.	264;173;256	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	Y	256;256;264;209;90	ENSP00000417773:S256Y;ENSP00000405455:S256Y;ENSP00000391481:S264Y;ENSP00000296289:S209Y	ENSP00000296289:S209Y	S	-	2	0	0	TKT	53240588	53240588	0.959000	0.32827	0.268000	0.24571	0.036000	0.12997	1.633000	0.37113	0.346000	0.23899	-0.122000	0.15005	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				38	36		197	195	1		1	1		0	0	38	0		1	1	0	318	0	694	0	38	197
CACNA1D	776	broad.mit.edu	37	3	53529248	53529248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000350061.5	+	1	566	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000288139.4_Missense_Mutation_p.D19N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	19					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)			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)	GCAGCAAGCGGACCACGCGAA	0.587																																						ENST00000350061.5	1.000000	0.350000	6.600000e-01	4.300000e-01	0.530000	0.563047	0.530000	0.520000																										0				90						c.(55-57)Gac>Aac		calcium channel, voltage-dependent, L type, alpha 1D subunit	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)						76.0	79.0	78.0					3																	53529248		2203	4300	6503	SO:0001583	missense	776	0	0					g.chr3:53529248G>A	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.55G>A	chr3.hg19:g.53529248G>A	ENSP00000288133:p.Asp19Asn	0					CACNA1D_ENST00000288139.4_Missense_Mutation_p.D19N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N	p.D19N	NM_001128840.1	NP_001122312.1	1	2	3	1.998468	Q01668	CAC1D_HUMAN		1	566	+			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	1	1	hg19	c.55G>A	CCDS46848.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014042	0.75161	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.95853	-3.81;-3.83;-3.83	4.12	4.12	0.48240	4.12	4.12	0.48240	.	.	.	.	.	D	0.89684	0.6786	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30889	0.198;0.198;0.299	B;B;B	0.23574	0.021;0.021;0.047	D	0.87873	0.2672	9	0.35671	T	0.21	.	12.0575	0.53544	0.0:0.0:1.0:0.0	.	19;19;19	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	N	19	ENSP00000288133:D19N;ENSP00000288139:D19N;ENSP00000409174:D19N	ENSP00000288139:D19N	D	+	1	0	0	CACNA1D	53504288	53504288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	2.286000	0.76751	0.555000	0.69702	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	0	1		2	2	2	0		0	0	118		118	116	1	2.060000	-4.810965	1	0.170000	NM_000720			26	26		562	553	0		1	0		0	0	118	0		9.999999e-01	1.957342e-02	0	0	0	5	0	26	562
CACNA1D	776	broad.mit.edu	37	3	53684805	53684805	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000350061.5	+	4	994		c.e4-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			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)	TTTCTTCACAGGAAAAAGTAG	0.358																																						ENST00000350061.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				90						c.e4-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	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)						100.0	97.0	98.0					3																	53684805		2203	4299	6502	SO:0001630	splice_region_variant	776	0	0					g.chr3:53684805G>T	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.484-1G>T	chr3.hg19:g.53684805G>T		0					CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site		NM_001128840.1	NP_001122312.1	1	2	3	1.998468	Q01668	CAC1D_HUMAN		4	994	+			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	1	1	hg19		CCDS46848.1	1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.393114	0.83011	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	4.88	4.88	0.63580	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CACNA1D	53659845	53659845	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.647000	0.98478	2.545000	0.85829	0.436000	0.28706	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.966632	1	0.170000	NM_000720	Intron		52	51		360	348	1		1			0	0	69	0		1	0	0	0	0	0	0	52	360
CACNA1D	776	broad.mit.edu	37	3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000350061.5	+	6	1310	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	267					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)			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)	CATTATAAAAGCCATGGTTCC	0.333																																						ENST00000350061.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(799-801)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1D subunit	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)						138.0	139.0	139.0					3																	53699719		2203	4300	6503	SO:0001583	missense	776	0	0					g.chr3:53699719G>A	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.799G>A	chr3.hg19:g.53699719G>A	ENSP00000288133:p.Ala267Thr	0					CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T	p.A267T	NM_001128840.1	NP_001122312.1	1	2	3	1.998468	Q01668	CAC1D_HUMAN		6	1310	+			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	1	1	hg19	c.799G>A	CCDS46848.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.234915	0.95207	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98512	-4.97;-4.97;-4.97	5.08	5.08	0.68730	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.99819	1.1046	10	0.87932	D	0	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	267;267;267	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	267	ENSP00000288133:A267T;ENSP00000288139:A267T;ENSP00000409174:A267T	ENSP00000288139:A267T	A	+	1	0	0	CACNA1D	53674759	53674759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_000720			83	81		455	450	1		1	0		0	0	124	0		1	5.269080e-01	0	0	0	11	0	83	455
CACNA1D	776	broad.mit.edu	37	3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000350061.5	+	7	1506	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	332					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)			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)	AATGGCACGGAATGTAGGAGT	0.527																																						ENST00000350061.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(994-996)gAa>gCa		calcium channel, voltage-dependent, L type, alpha 1D subunit	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)						218.0	209.0	212.0					3																	53700441		2203	4300	6503	SO:0001583	missense	776	0	0					g.chr3:53700441A>C	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.995A>C	chr3.hg19:g.53700441A>C	ENSP00000288133:p.Glu332Ala	0					CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A	p.E332A	NM_001128840.1	NP_001122312.1	1	2	3	1.998468	Q01668	CAC1D_HUMAN		7	1506	+			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	1	1	hg19	c.995A>C	CCDS46848.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791494|2.791494	0.50102|0.50102	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.96200|.	-3.91;-3.94;-3.93;-3.91|.	5.29|5.29	5.29|5.29	0.74685|0.74685	5.29|5.29	5.29|5.29	0.74685|0.74685	Ion transport (1);|.	0.157207|.	0.44902|.	D|.	0.000420|.	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36837|.	0.571;0.068;0.321|.	P;B;B|.	0.46208|.	0.507;0.102;0.281|.	T|T	0.72603|0.72603	-0.4243|-0.4243	10|5	0.32370|.	T|.	0.25|.	.|.	10.5953|10.5953	0.45333|0.45333	0.8565:0.0:0.0:0.1435|0.8565:0.0:0.0:0.1435	.|.	332;332;332|.	B0FYA3;Q01668;Q01668-2|.	.;CAC1D_HUMAN;.|.	A|H	332;332;332;5|18	ENSP00000288133:E332A;ENSP00000288139:E332A;ENSP00000409174:E332A;ENSP00000418014:E5A|.	ENSP00000288139:E332A|.	E|N	+|+	2|1	0|0	0|0	CACNA1D|CACNA1D	53675481|53675481	53675481|53675481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.768000|3.768000	0.55295|0.55295	2.215000|2.215000	0.71742|0.71742	0.533000|0.533000	0.62120|0.62120	GAA|AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1		2	2	2	0		0	0	224		224	203	1	2.060000	-20.000000	1	0.170000	NM_000720			185	177		904	868	1		1	0		0	0	224	0		1	2.036239e-01	0	0	0	5	0	185	904
CACNA1D	776	broad.mit.edu	37	3	53837449	53837449	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000350061.5	+	44	5946		c.e44-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			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)	CCCAACTGCAGGTCCGACTCA	0.597																																						ENST00000350061.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.e44-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	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)						109.0	109.0	109.0					3																	53837449		2203	4300	6503	SO:0001630	splice_region_variant	776	0	0					g.chr3:53837449G>A	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.5436-1G>A	chr3.hg19:g.53837449G>A		0					CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site		NM_001128840.1	NP_001122312.1	1	2	3	1.998468	Q01668	CAC1D_HUMAN		44	5946	+			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	1	1	hg19		CCDS46848.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056143	0.76074	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.67	4.67	0.58626	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1563	0.81670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CACNA1D	53812489	53812489	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.308000	0.89966	2.318000	0.78349	0.637000	0.83480	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-3.697148	1	0.170000	NM_000720	Intron		135	130		512	505	1		1			0	0	152	0		1	0	0	0	0	0	0	135	512
CHDH	55349	broad.mit.edu	37	3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	402					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627																																						ENST00000315251.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1204-1206)Ttc>Gtc		choline dehydrogenase	Choline(DB00122)						69.0	74.0	72.0					3																	53853618		2203	4300	6503	SO:0001583	missense	55349	0	0					g.chr3:53853618A>C	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1204T>G	chr3.hg19:g.53853618A>C	ENSP00000319851:p.Phe402Val	0						p.F402V	NM_018397.4	NP_060867.2	1	2	3	1.998468	Q8NE62	CHDH_HUMAN		7	1641	-		Hepatocellular(537;0.152)	Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	1	1	hg19	c.1204T>G	CCDS2873.1	1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744510	0.89663	.	.	ENSG00000016391	ENST00000315251	T	0.46819	0.86	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.84585	2.705	0.80722	D	1	P	0.52316	0.952	P	0.55965	0.788	T	0.74426	-0.3669	10	0.87932	D	0	-31.5137	15.4005	0.74838	1.0:0.0:0.0:0.0	.	402	Q8NE62	CHDH_HUMAN	V	402	ENSP00000319851:F402V	ENSP00000319851:F402V	F	-	1	0	0	CHDH	53828658	53828658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.943000	0.92975	2.063000	0.61619	0.460000	0.39030	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_018397			81	81		292	287	1		1	1		0	0	75	0		1	9.999932e-01	0	34	0	31	0	81	292
ACTR8	93973	broad.mit.edu	37	3	53907062	53907062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000335754.3	-	9	1258	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	386					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)			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)		AAGTTACCTGCAGTTTTTCAT	0.428																																						ENST00000335754.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999633	0.990000	1.000000																										0				19						c.(1156-1158)ctG>ctA		ARP8 actin-related protein 8 homolog (yeast)							72.0	68.0	69.0					3																	53907062		2203	4300	6503	SO:0001819	synonymous_variant	93973	4	121396	30				g.chr3:53907062C>T		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.1158G>A	chr3.hg19:g.53907062C>T		0					ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L|ACTR8_ENST00000488802.1_5'Flank	p.L386L	NM_022899.4	NP_075050.3	1	2	3	1.998468	Q9H981	ARP8_HUMAN		9	1258	-			B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	1	1	hg19	c.1158G>A	CCDS2875.1	1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873383	0.17322	.	.	ENSG00000113812	ENST00000486794	.	.	.	6.08	0.688	0.18027	6.08	0.688	0.18027	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.7611	4.623	0.12465	0.0736:0.3076:0.4198:0.199	.	.	.	.	Y	140	.	.	C	-	2	0	0	ACTR8	53882102	53882102	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.989000	0.29629	0.455000	0.26910	-0.203000	0.12734	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_022899			14	12		58	58	1		1	1		0	0	25	0		9.998249e-01	9.999979e-01	0	20	0	99	0	14	58
ACTR8	93973	broad.mit.edu	37	3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000335754.3	-	5	615	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	172					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)			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)		ATTAACATACAAGGCCTAGAA	0.413																																						ENST00000335754.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				19						c.(514-516)tTg>tCg		ARP8 actin-related protein 8 homolog (yeast)							44.0	47.0	46.0					3																	53911410		2203	4300	6503	SO:0001583	missense	93973	0	0					g.chr3:53911410A>G		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.515T>C	chr3.hg19:g.53911410A>G	ENSP00000336842:p.Leu172Ser	0					ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S|ACTR8_ENST00000231909.7_5'Flank	p.L172S	NM_022899.4	NP_075050.3	1	2	3	1.998468	Q9H981	ARP8_HUMAN		5	615	-			B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	1	1	hg19	c.515T>C	CCDS2875.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392418	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.46819	0.86;0.86	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74945	-0.3491	10	0.35671	T	0.21	-0.0941	15.0492	0.71854	1.0:0.0:0.0:0.0	.	172	Q9H981	ARP8_HUMAN	S	172;61;61	ENSP00000336842:L172S;ENSP00000419429:L61S	ENSP00000336842:L172S	L	-	2	0	0	ACTR8	53886450	53886450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.923000	0.92808	2.288000	0.76882	0.528000	0.53228	TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_022899			35	34		175	171	1		1	1		0	0	37	0		1	9.999013e-01	0	20	0	54	0	35	175
CACNA2D3	55799	broad.mit.edu	37	3	54420803	54420803	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			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)	GACTTACAGGTAACTGATTAT	0.383																																						ENST00000474759.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				59						c.e4+2		calcium channel, voltage-dependent, alpha 2/delta subunit 3	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)						90.0	91.0	91.0					3																	54420803		1870	4109	5979	SO:0001630	splice_region_variant	55799	0	0					g.chr3:54420803T>C	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.381+2T>C	chr3.hg19:g.54420803T>C		0					CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site		NM_018398.2	NP_060868.2	1	2	3	1.998468	Q8IZS8	CA2D3_HUMAN		4	429	+			B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	1	1	hg19		CCDS54598.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049840	0.75846	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.203	0.54337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CACNA2D3	54395843	54395843	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.994000	0.63901	2.199000	0.70637	0.533000	0.62120	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000		Intron		18	18		51	48	1		1			0	0	10	0		9.999902e-01	0	0	0	0	0	0	18	51
CACNA2D3	55799	broad.mit.edu	37	3	55021769	55021769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000288197.5_Silent_p.G893G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	893						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			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)	TAACAATGGGCTCCTTTAAAA	0.398																																						ENST00000474759.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				59						c.(2677-2679)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 3	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)						125.0	120.0	121.0					3																	55021769		1820	4079	5899	SO:0001819	synonymous_variant	55799	0	0					g.chr3:55021769C>T	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.2679C>T	chr3.hg19:g.55021769C>T		0					CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR	p.G893G	NM_018398.2	NP_060868.2	1	2	3	1.998468	Q8IZS8	CA2D3_HUMAN		31	2727	+			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	1	1	hg19	c.2679C>T	CCDS54598.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				25	25		120	115	1		1	0		0	0	34	0		9.999999e-01	0	0	0	0	1	0	25	120
CACNA2D3	55799	broad.mit.edu	37	3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1042						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			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)	AAGTGTGAACGTCTAAAGGCC	0.423																																						ENST00000474759.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				59						c.(3124-3126)cGt>cAt		calcium channel, voltage-dependent, alpha 2/delta subunit 3	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)						87.0	86.0	86.0					3																	55107828		1901	4127	6028	SO:0001583	missense	55799	0	0					g.chr3:55107828G>A	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.3125G>A	chr3.hg19:g.55107828G>A	ENSP00000419101:p.Arg1042His	0					CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR	p.R1042H	NM_018398.2	NP_060868.2	1	2	3	1.998468	Q8IZS8	CA2D3_HUMAN		37	3173	+			B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	1	1	hg19	c.3125G>A	CCDS54598.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.190546	0.94923	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.66378	2.025	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	D	0.87183	0.2229	10	0.27082	T	0.32	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	1042	Q8IZS8	CA2D3_HUMAN	H	1042;1042;1042;948;949	ENSP00000389506:R1042H;ENSP00000419101:R1042H;ENSP00000288197:R1042H;ENSP00000417279:R948H	ENSP00000288197:R1042H	R	+	2	0	0	CACNA2D3	55082868	55082868	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.444000	0.97578	2.694000	0.91930	0.637000	0.83480	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				26	24		106	105	1		1	0		0	0	29	0		1	0	0	0	0	1	0	26	106
WNT5A	7474	broad.mit.edu	37	3	55508452	55508452	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	199					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687																																						ENST00000474267.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				13						c.(595-597)gcC>gcA		wingless-type MMTV integration site family, member 5A							14.0	20.0	18.0					3																	55508452		2121	4263	6384	SO:0001819	synonymous_variant	7474	0	0					g.chr3:55508452G>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.597C>A	chr3.hg19:g.55508452G>T		0					WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A	p.A199A			1	2	3	1.998468	P41221	WNT5A_HUMAN		5	1118	-			A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	1	1	hg19	c.597C>A	CCDS46850.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_003392			23	23		113	111	0		1	0		0	0	15	0		9.999996e-01	9.482118e-01	0	0	0	27	0	23	113
ERC2	26059	broad.mit.edu	37	3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	896						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				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)		TGTACTAGTCGGTCTTTTTCC	0.478																																						ENST00000288221.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998801	0.990000	1.000000																										0				31						c.(2686-2688)Cga>Tga		ELKS/RAB6-interacting/CAST family member 2							107.0	101.0	103.0					3																	55768825		1871	4110	5981	SO:0001587	stop_gained	26059	0	0					g.chr3:55768825G>A	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.2686C>T	chr3.hg19:g.55768825G>A	ENSP00000288221:p.Arg896*	0						p.R896*	NM_015576.1	NP_056391.1	1	2	3	1.998468	O15083	ERC2_HUMAN		15	2941	-			Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	0	1	hg19	c.2686C>T	CCDS46851.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.845178	0.98976	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.67	3.77	0.43336	5.67	3.77	0.43336	.	0.063683	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0675	7.1764	0.25747	0.0853:0.0:0.5892:0.3255	.	.	.	.	X	896	.	ENSP00000288221:R896X	R	-	1	2	2	ERC2	55743865	55743865	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.704000	0.68347	1.394000	0.46624	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-2.628002	1	0.170000	NM_015576			22	20		141	139	1		1			0	0	31	0		9.999990e-01	0	0	0	0	0	0	22	141
ERC2	26059	broad.mit.edu	37	3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	616						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				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)		CGGAAGGATTCTATCTCTTCT	0.403																																						ENST00000288221.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1846-1848)Gaa>Aaa		ELKS/RAB6-interacting/CAST family member 2							244.0	225.0	231.0					3																	56044551		1858	4099	5957	SO:0001583	missense	26059	0	0					g.chr3:56044551C>T	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.1846G>A	chr3.hg19:g.56044551C>T	ENSP00000288221:p.Glu616Lys	0						p.E616K	NM_015576.1	NP_056391.1	1	2	3	1.998468	O15083	ERC2_HUMAN		9	2101	-			Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	1	1	hg19	c.1846G>A	CCDS46851.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430625	0.83776	.	.	ENSG00000187672	ENST00000288221	T	0.50001	0.76	6.02	5.14	0.70334	6.02	5.14	0.70334	.	0.094954	0.64402	D	0.000001	T	0.42810	0.1219	L	0.44542	1.39	0.48571	D	0.999677	B	0.26708	0.157	B	0.25140	0.058	T	0.22977	-1.0201	10	0.33940	T	0.23	-21.3003	16.7283	0.85429	0.1304:0.8695:0.0:0.0	.	616	O15083	ERC2_HUMAN	K	616	ENSP00000288221:E616K	ENSP00000288221:E616K	E	-	1	0	0	ERC2	56019591	56019591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.548000	0.49413	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1		2	2	2	0		0	0	112		112	113	1	2.060000	-20.000000	1	0.170000	NM_015576			99	97		439	428	1		1			0	0	112	0		1	0	0	0	0	0	0	99	439
ERC2	26059	broad.mit.edu	37	3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	222						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				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)		GGATTGTCAACTGTAGGTGCT	0.517																																						ENST00000288221.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(664-666)caG>caT		ELKS/RAB6-interacting/CAST family member 2							63.0	59.0	60.0					3																	56330455		2001	4171	6172	SO:0001583	missense	26059	1	120946	34				g.chr3:56330455C>A	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.666G>T	chr3.hg19:g.56330455C>A	ENSP00000288221:p.Gln222His	0						p.Q222H	NM_015576.1	NP_056391.1	1	2	3	1.998468	O15083	ERC2_HUMAN		3	921	-			Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	1	1	hg19	c.666G>T	CCDS46851.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632651	0.47049	.	.	ENSG00000187672	ENST00000288221	T	0.54479	0.57	5.86	3.14	0.36123	5.86	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.53729	1.69	0.44181	D	0.996993	D	0.62365	0.991	D	0.75484	0.986	T	0.60924	-0.7166	10	0.46703	T	0.11	-27.0337	10.2316	0.43258	0.0:0.7198:0.0:0.2802	.	222	O15083	ERC2_HUMAN	H	222	ENSP00000288221:Q222H	ENSP00000288221:Q222H	Q	-	3	2	2	ERC2	56305495	56305495	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.649000	0.46656	0.496000	0.27904	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_015576			57	54		214	211	0		1			0	0	43	0		1	0	0	0	0	0	0	57	214
ERC2	26059	broad.mit.edu	37	3	56468991	56468991	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	15						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				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)		GGGATCTGGAAGGGCTACCTT	0.458																																						ENST00000288221.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				31						c.(43-45)ccT>ccC		ELKS/RAB6-interacting/CAST family member 2							105.0	99.0	101.0					3																	56468991		1901	4124	6025	SO:0001819	synonymous_variant	26059	0	0					g.chr3:56468991A>G	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.45T>C	chr3.hg19:g.56468991A>G		0						p.P15P	NM_015576.1	NP_056391.1	1	2	3	1.998468	O15083	ERC2_HUMAN		2	300	-			Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	1	1	hg19	c.45T>C	CCDS46851.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-17.831660	1	0.170000	NM_015576			34	33		188	183	1		1			0	0	39	0		1	0	0	0	0	0	0	34	188
CCDC66	285331	broad.mit.edu	37	3	56653485	56653485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	855					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					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)		CAAATGAGATCTATTACCTTG	0.378																																						ENST00000394672.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(2563-2565)atC>atT		coiled-coil domain containing 66							102.0	111.0	108.0					3																	56653485		2203	4300	6503	SO:0001819	synonymous_variant	285331	0	0					g.chr3:56653485C>T	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.2565C>T	chr3.hg19:g.56653485C>T		0					CCDC66_ENST00000326595.7_Silent_p.I821I|CCDC66_ENST00000436465.2_Silent_p.I855I	p.I855I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	1	2	3	1.998468	A2RUB6	CCD66_HUMAN		16	2635	+			B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	1	1	hg19	c.2565C>T	CCDS46852.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-20.000000	1	0.170000	NM_001012506			92	90		353	348	1		1	1		0	0	88	0		1	9.246267e-01	0	6	0	13	0	92	353
IL17RD	54756	broad.mit.edu	37	3	57132156	57132156	+	Silent	SNP	C	C	T	rs373484847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	525					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		TGCCCTGTCGCGTGTGCTGCC	0.572																																						ENST00000296318.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				16						c.(1573-1575)acG>acA		interleukin 17 receptor D							74.0	65.0	68.0					3																	57132156		2203	4300	6503	SO:0001819	synonymous_variant	54756	0	0					g.chr3:57132156C>T	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.1575G>A	chr3.hg19:g.57132156C>T		0					IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T	p.T525T	NM_017563.3	NP_060033.3	1	2	3	1.998468	Q8NFM7	I17RD_HUMAN		12	1663	-			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	1	1	hg19	c.1575G>A	CCDS2880.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_017563			35	35		167	162	1		1	0		0	0	45	1		1	3.573498e-01	0	0	0	7	0	35	167
HESX1	8820	broad.mit.edu	37	3	57232919	57232919	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000295934.3	-	2	255	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000473921.1_Silent_p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	73					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)			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)		GATCCACCACGCTAGGGAATG	0.393																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	ENST00000295934.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(217-219)agC>agT		HESX homeobox 1							185.0	208.0	200.0					3																	57232919		2203	4300	6503	SO:0001819	synonymous_variant	8820	2	121412	38				g.chr3:57232919G>A	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.219C>T	chr3.hg19:g.57232919G>A		0					HESX1_ENST00000473921.1_Silent_p.S73S	p.S73S	NM_003865.2	NP_003856.1	1	2	3	1.998468	Q9UBX0	HESX1_HUMAN		2	255	-			Q52LC5|Q99667	Silent	SNP	ENST00000295934.3	1	1	hg19	c.219C>T	CCDS2881.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2	1	0	1		2	2	2	0		0	0	325		325	323	1	2.060000	-20.000000	1	0.170000				277	276		1197	1185	0		1	1		0	0	325	0		1	7.318730e-01	0	5	0	8	0	277	1197
APPL1	26060	broad.mit.edu	37	3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T	rs576774339		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	589	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			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)		ATTTGTTCTTCGGACATCAAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		12955	0.0		0.001	False		,,,				2504	0.0					ENST00000288266.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1765-1767)Cgg>Tgg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							197.0	194.0	195.0					3																	57294725		2203	4300	6503	SO:0001583	missense	26060	2	121412	34				g.chr3:57294725C>T	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.1765C>T	chr3.hg19:g.57294725C>T	ENSP00000288266:p.Arg589Trp	0						p.R589W	NM_012096.2	NP_036228.1	1	2	3	1.998468	Q9UKG1	DP13A_HUMAN		19	1912	+			Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	1	1	hg19	c.1765C>T	CCDS2882.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810490	0.90707	.	.	ENSG00000157500	ENST00000288266	T	0.12255	2.7	5.37	5.37	0.77165	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.133459	0.51477	D	0.000085	T	0.30293	0.0760	L	0.54323	1.7	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	P;P	0.62089	0.854;0.898	T	0.00912	-1.1517	10	0.87932	D	0	.	14.9148	0.70789	0.152:0.848:0.0:0.0	.	572;589	B4DQX8;Q9UKG1	.;DP13A_HUMAN	W	589	ENSP00000288266:R589W	ENSP00000288266:R589W	R	+	1	2	2	APPL1	57269765	57269765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.511000	0.84671	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	1	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-3.319937	1	0.170000	NM_012096			164	163		830	820	1		1	1		0	0	172	0		1	1	0	37	0	133	0	164	830
DNAH12	201625	broad.mit.edu	37	3	57493472	57493472	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000351747.2	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000311202.6_Silent_p.P265P|DNAH12_ENST00000389536.4_Silent_p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	265	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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343																																						ENST00000351747.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(793-795)ccA>ccC		dynein, axonemal, heavy chain 12							163.0	154.0	157.0					3																	57493472		2203	4299	6502	SO:0001819	synonymous_variant	201625	0	0					g.chr3:57493472T>G	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.795A>C	chr3.hg19:g.57493472T>G		0					DNAH12_ENST00000389536.4_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P	p.P265P	NM_178504.4	NP_848599.3	1	2	3	1.998468	Q6ZR08	DYH12_HUMAN		8	975	-			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	1	1	hg19	c.795A>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_178504			86	85		332	322	1		1			0	0	70	0		1	0	0	0	0	0	0	86	332
DNAH12	201625	broad.mit.edu	37	3	57494905	57494905	+	Silent	SNP	C	C	T	rs150553536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000311202.6_Silent_p.S168S|DNAH12_ENST00000389536.4_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308																																						ENST00000351747.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(502-504)tcG>tcA		dynein, axonemal, heavy chain 12		C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	85.0	85.0		504,504	5.7	1.0	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	168/3093,168/458	57494905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	201625	1	121410	27				g.chr3:57494905C>T	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.504G>A	chr3.hg19:g.57494905C>T		0					DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	p.S168S	NM_178504.4	NP_848599.3	1	2	3	1.998468	Q6ZR08	DYH12_HUMAN		6	684	-			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	1	1	hg19	c.504G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.143060	1	0.170000	NM_178504			71	70		328	322	1		1			0	0	82	0		1	0	0	0	0	0	0	71	328
DNAH12	201625	broad.mit.edu	37	3	57496520	57496520	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000351747.2	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_ENST00000311202.6_Silent_p.L156L|RNU6-1181P_ENST00000384191.1_RNA|DNAH12_ENST00000389536.4_Silent_p.L156L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	156	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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398																																						ENST00000351747.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				25						c.(466-468)Ttg>Ctg		dynein, axonemal, heavy chain 12							133.0	115.0	121.0					3																	57496520		2203	4300	6503	SO:0001819	synonymous_variant	201625	0	0					g.chr3:57496520A>G	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.466T>C	chr3.hg19:g.57496520A>G		0					RNU6-1181P_ENST00000384191.1_RNA|DNAH12_ENST00000389536.4_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L	p.L156L	NM_178504.4	NP_848599.3	1	2	3	1.998468	Q6ZR08	DYH12_HUMAN		5	646	-			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	1	1	hg19	c.466T>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.996930	1	0.170000	NM_178504			45	45		249	246	1		1			0	0	46	0		1	0	0	0	0	0	0	45	249
ARF4	378	broad.mit.edu	37	3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000303436.6	-	5	665	c.398C>A	c.(397-399)gCt>gAt	p.A133D	ARF4_ENST00000496292.1_Missense_Mutation_p.A106D|ARF4_ENST00000489843.1_Missense_Mutation_p.A24D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	133					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)			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)		GATGGCCATAGCATTTGGCAA	0.383																																						ENST00000303436.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(397-399)gCt>gAt		ADP-ribosylation factor 4							114.0	105.0	108.0					3																	57561333		2203	4300	6503	SO:0001583	missense	378	0	0					g.chr3:57561333G>T	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.398C>A	chr3.hg19:g.57561333G>T	ENSP00000306010:p.Ala133Asp	0					ARF4_ENST00000496292.1_Missense_Mutation_p.A106D|ARF4_ENST00000489843.1_Missense_Mutation_p.A24D	p.A133D	NM_001660.3	NP_001651.1	1	2	3	1.998468	P18085	ARF4_HUMAN		5	665	-			B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	1	1	hg19	c.398C>A	CCDS2884.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.608893	0.96637	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.69435	-0.4;-0.4	6.02	6.02	0.97574	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.94091	0.7353	10	0.87932	D	0	-11.9416	20.5269	0.99230	0.0:0.0:1.0:0.0	.	106;133	C9JAK5;P18085	.;ARF4_HUMAN	D	133;106	ENSP00000306010:A133D;ENSP00000417501:A106D	ENSP00000306010:A133D	A	-	2	0	0	ARF4	57536373	57536373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.859000	0.98148	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-20.000000	1	0.170000	NM_001660			65	65		279	275	1		1	1		0	0	70	0		1	1	0	580	0	1511	0	65	279
FLNB	2317	broad.mit.edu	37	3	58084521	58084521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	ENST00000295956.4	+	8	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000357272.4_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	411					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)			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)		AGACAAAGGAAACCAGGTGTA	0.522																																						ENST00000295956.4	1.000000	0.180000	4.500000e-01	2.400000e-01	0.330000	0.376491	0.330000	0.320000																										0				120						c.(1231-1233)Aac>Gac		filamin B, beta							272.0	229.0	243.0					3																	58084521		2203	4300	6503	SO:0001583	missense	2317	0	0					g.chr3:58084521A>G	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.1231A>G	chr3.hg19:g.58084521A>G	ENSP00000295956:p.Asn411Asp	0					FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000357272.4_Missense_Mutation_p.N411D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D	p.N411D	NM_001457.3	NP_001448.2	1	2	3	1.998468	O75369	FLNB_HUMAN		8	1396	+			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	1	1	hg19	c.1231A>G	CCDS2885.1	0	.	.	.	.	.	.	.	.	.	.	A	4.688	0.127874	0.08981	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;T;T;D;D;D;T;D	0.89196	-2.48;0.31;0.31;-2.48;-2.48;-2.48;0.31;-2.48	5.28	4.09	0.47781	5.28	4.09	0.47781	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.171248	0.64402	D	0.000006	T	0.68559	0.3014	N	0.01431	-0.87	0.40536	D	0.980972	B;B;B;B;B;B	0.16603	0.001;0.001;0.018;0.0;0.003;0.008	B;B;B;B;B;B	0.20184	0.008;0.013;0.028;0.008;0.013;0.02	T	0.64630	-0.6362	10	0.02654	T	1	.	11.6375	0.51213	0.8666:0.0:0.0:0.1334	.	411;411;242;242;411;411	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	411;411;411;411;411;411;242;242	ENSP00000295956:N411D;ENSP00000420213:N411D;ENSP00000351339:N411D;ENSP00000415599:N411D;ENSP00000232447:N411D;ENSP00000349819:N411D;ENSP00000418510:N242D;ENSP00000414532:N242D	ENSP00000295956:N411D	N	+	1	0	0	FLNB	58059561	58059561	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.523000	0.53488	0.917000	0.36895	0.459000	0.35465	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.250105	1	0.170000	NM_001457			13	13		468	457	0		1	1		0	0	100	0		9.994696e-01	9.901281e-01	0	10	0	268	0	13	468
DNASE1L3	1776	broad.mit.edu	37	3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000394549.2	-	6	905	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V197I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	197					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)			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)		TTCTTGGGGACGTAGCTGCAG	0.512																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000394549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(589-591)Gtc>Atc		deoxyribonuclease I-like 3							91.0	87.0	89.0					3																	58183663		2203	4300	6503	SO:0001583	missense	1776	3	121412	34				g.chr3:58183663C>T	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.589G>A	chr3.hg19:g.58183663C>T	ENSP00000378053:p.Val197Ile	0					DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I	p.V197I	NM_004944.3	NP_004935.1	1	2	3	1.998468	Q13609	DNSL3_HUMAN		6	905	-			B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	1	1	hg19	c.589G>A	CCDS2886.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553054	0.86127	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.25	4.38	0.52667	5.25	4.38	0.52667	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.73329	0.3573	M	0.90759	3.145	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79964	-0.1581	10	0.72032	D	0.01	.	14.0276	0.64594	0.0:0.9276:0.0:0.0724	.	167;197;197	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	167;197;197;197;71;197	ENSP00000419052:V167I;ENSP00000316193:V197I;ENSP00000417047:V197I;ENSP00000417976:V71I;ENSP00000378053:V197I	ENSP00000316193:V197I	V	-	1	0	0	DNASE1L3	58158703	58158703	0.805000	0.28982	0.965000	0.40720	0.994000	0.84299	1.597000	0.36729	1.461000	0.47929	0.591000	0.81541	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	1	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-20.000000	1	0.170000	NM_004944			43	42		195	192	1		1	0		0	0	56	0		1	0	0	0	0	1	0	43	195
ABHD6	57406	broad.mit.edu	37	3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	43					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493																																						ENST00000478253.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(127-129)Cgg>Tgg		abhydrolase domain containing 6							167.0	153.0	158.0					3																	58252923		2203	4300	6503	SO:0001583	missense	57406	2	121412	35				g.chr3:58252923C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.127C>T	chr3.hg19:g.58252923C>T	ENSP00000420315:p.Arg43Trp	0					ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W	p.R43W			1	2	3	1.998468	Q9BV23	ABHD6_HUMAN		4	628	+			B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	1	1	hg19	c.127C>T	CCDS2887.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088007	0.76642	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.91237	-1.5;-1.5;-2.81;-2.81	5.27	4.39	0.52855	5.27	4.39	0.52855	.	0.051922	0.85682	D	0.000000	D	0.94660	0.8278	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74674	0.913;0.984	D	0.95078	0.8210	10	0.87932	D	0	-24.8984	14.9548	0.71104	0.144:0.856:0.0:0.0	.	43;43	Q9BV23;F5H7L1	ABHD6_HUMAN;.	W	43	ENSP00000420315:R43W;ENSP00000295962:R43W;ENSP00000420408:R43W;ENSP00000418934:R43W	ENSP00000295962:R43W	R	+	1	2	2	ABHD6	58227963	58227963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.755000	0.38379	1.202000	0.43218	0.555000	0.69702	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_020676			100	97		454	442	1		1	1		0	0	123	0		1	9.751093e-01	0	13	0	16	0	100	454
ABHD6	57406	broad.mit.edu	37	3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	190					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493																																						ENST00000478253.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(568-570)Gaa>Taa		abhydrolase domain containing 6							94.0	93.0	93.0					3																	58260429		2203	4300	6503	SO:0001587	stop_gained	57406	0	0					g.chr3:58260429G>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.568G>T	chr3.hg19:g.58260429G>T	ENSP00000420315:p.Glu190*	0					ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*	p.E190*			1	2	3	1.998468	Q9BV23	ABHD6_HUMAN		7	1069	+			B2R7Y9|Q6ZMF7	Nonsense_Mutation	SNP	ENST00000478253.1	0	1	hg19	c.568G>T	CCDS2887.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.357571	0.98235	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	.	.	.	5.88	4.99	0.66335	5.88	4.99	0.66335	.	0.228966	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.5841	15.9067	0.79436	0.0:0.0:0.8635:0.1365	.	.	.	.	X	190	.	ENSP00000295962:E190X	E	+	1	0	0	ABHD6	58235469	58235469	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	8.955000	0.93058	1.444000	0.47605	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_020676			74	75		377	372	1		1	1		0	0	115	0		1	9.993188e-01	0	2	0	55	0	74	377
PXK	54899	broad.mit.edu	37	3	58383343	58383343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000356151.2	+	11	1105	c.996T>C	c.(994-996)agT>agC	p.S332S	PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000463280.1_Silent_p.S299S|PXK_ENST00000383716.3_Silent_p.S299S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											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)		CATTGGAAAGTGTGGATGTCC	0.542																																						ENST00000356151.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(994-996)agT>agC		PX domain containing serine/threonine kinase							196.0	176.0	182.0					3																	58383343		2203	4300	6503	SO:0001819	synonymous_variant	54899	8	121412	44				g.chr3:58383343T>C	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.996T>C	chr3.hg19:g.58383343T>C		0					PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000463280.1_Silent_p.S299S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000479241.1_Silent_p.S315S	p.S332S	NM_017771.3	NP_060241.2	1	2	3	1.998468				11	1105	+				Silent	SNP	ENST00000356151.2	1	1	hg19	c.996T>C	CCDS2889.1	1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352609	0.24512	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.52	-2.33	0.06724	5.52	-2.33	0.06724	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-15.6095	8.5718	0.33574	0.0:0.3656:0.104:0.5303	.	.	.	.	A	87	.	.	V	+	2	0	0	PXK	58358383	58358383	0.883000	0.30277	0.998000	0.56505	0.971000	0.66376	-0.103000	0.10940	-0.030000	0.13804	0.460000	0.39030	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	0	0	1		17	3	2	1		1	1	188		188	187	1	2.060000	-20.000000	1	0.170000	NM_017771			167	165		734	726	1		1	0		1	0	188	0		1	9.980710e-01	0	0	0	53	0	167	734
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000356151.2	+	15	1499	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000463280.1_Nonsense_Mutation_p.R431*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											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)		GATTTTAGCTCGAAAGGTAAG	0.418																																						ENST00000356151.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				19						c.(1390-1392)Cga>Tga		PX domain containing serine/threonine kinase							38.0	37.0	37.0					3																	58395340		2202	4299	6501	SO:0001587	stop_gained	54899	0	0					g.chr3:58395340C>T	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.1390C>T	chr3.hg19:g.58395340C>T	ENSP00000348472:p.Arg464*	0					PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000463280.1_Nonsense_Mutation_p.R431*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*	p.R464*	NM_017771.3	NP_060241.2	1	2	3	1.998468				15	1499	+				Nonsense_Mutation	SNP	ENST00000356151.2	0	1	hg19	c.1390C>T	CCDS2889.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.792770|7.792770	0.98492|0.98492	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660|ENST00000536750	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65842	.|0.2730	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.08381|.	T|.	0.77|.	-9.0252|-9.0252	14.5269|14.5269	0.67894|0.67894	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|.	.|.	.|.	X|L	464;447;431;431;447;464;447;327|326	.|.	ENSP00000305045:R447X|.	R|S	+|+	1|2	2|0	2|0	PXK|PXK	58370380|58370380	58370380|58370380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.316000|2.316000	0.43761|0.43761	2.759000|2.759000	0.94783|0.94783	0.643000|0.643000	0.83706|0.83706	CGA|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_017771			28	27		127	125	1		1	0		0	0	35	0		1	9.975088e-01	0	1	0	45	0	28	127
KCTD6	200845	broad.mit.edu	37	3	58486991	58486991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	ENST00000355076.6	+	2	1329	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A|KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	116					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			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)		TCCCATGGATACTTTTGAAGA	0.418																																						ENST00000355076.6	1.000000	0.430000	8.100000e-01	5.300000e-01	0.650000	0.676505	0.650000	0.640000																										0				5						c.(346-348)Act>Gct		potassium channel tetramerization domain containing 6							112.0	105.0	107.0					3																	58486991		2203	4300	6503	SO:0001583	missense	200845	0	0					g.chr3:58486991A>G	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.346A>G	chr3.hg19:g.58486991A>G	ENSP00000347188:p.Thr116Ala	0					KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A|KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A	p.T116A	NM_153331.3	NP_699162.3	1	2	3	1.998468	Q8NC69	KCTD6_HUMAN		2	1329	+			B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	1	1	hg19	c.346A>G	CCDS2891.1	0	.	.	.	.	.	.	.	.	.	.	A	4.125	0.021343	0.08006	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.59906	0.23;0.23;0.23	5.75	4.59	0.56863	5.75	4.59	0.56863	.	0.047779	0.85682	D	0.000000	T	0.33177	0.0854	N	0.08118	0	0.43603	D	0.995964	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.09084	T	0.74	.	11.8039	0.52143	0.9314:0.0:0.0686:0.0	.	116	Q8NC69	KCTD6_HUMAN	A	116	ENSP00000384948:T116A;ENSP00000417490:T116A;ENSP00000347188:T116A	ENSP00000347188:T116A	T	+	1	0	0	KCTD6	58462031	58462031	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	1.002000	0.39104	-0.290000	0.09829	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	0	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_153331			25	25		436	432	0		1	1		0	0	123	0		9.999998e-01	9.004044e-01	0	4	0	68	0	25	436
KCTD6	200845	broad.mit.edu	37	3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	180					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			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)		TTTACTTTTGGACCCTGTGAT	0.438																																						ENST00000355076.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(538-540)gGa>gAa		potassium channel tetramerization domain containing 6							99.0	94.0	96.0					3																	58487184		2203	4300	6503	SO:0001583	missense	200845	0	0					g.chr3:58487184G>A	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.539G>A	chr3.hg19:g.58487184G>A	ENSP00000347188:p.Gly180Glu	0					KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E|KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E	p.G180E	NM_153331.3	NP_699162.3	1	2	3	1.998468	Q8NC69	KCTD6_HUMAN		2	1522	+			B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	1	1	hg19	c.539G>A	CCDS2891.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104352	0.56291	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.73681	-0.77;-0.77;-0.77	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.54275	-0.8318	10	0.36615	T	0.2	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	180	Q8NC69	KCTD6_HUMAN	E	180	ENSP00000384948:G180E;ENSP00000417490:G180E;ENSP00000347188:G180E	ENSP00000347188:G180E	G	+	2	0	0	KCTD6	58462224	58462224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.591000	0.81541	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.511053	1	0.170000	NM_153331			71	71		300	297	1		1	1		0	0	74	0		1	9.999876e-01	0	19	0	53	0	71	300
ACOX2	8309	broad.mit.edu	37	3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000302819.5	-	10	1598	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	436					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)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602																																						ENST00000302819.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1306-1308)tAc>tGc		acyl-CoA oxidase 2, branched chain							78.0	62.0	68.0					3																	58512232		2203	4300	6503	SO:0001583	missense	8309	0	0					g.chr3:58512232T>C	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1307A>G	chr3.hg19:g.58512232T>C	ENSP00000307697:p.Tyr436Cys	0					ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	p.Y436C	NM_003500.3	NP_003491.1	1	2	3	1.998468	Q99424	ACOX2_HUMAN		10	1598	-			A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	1	1	hg19	c.1307A>G	CCDS33775.1	1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794993	0.50208	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.74737	-0.87;-0.87	4.26	3.08	0.35506	4.26	3.08	0.35506	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.100654	0.43747	D	0.000538	D	0.88905	0.6564	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.89965	0.4089	10	0.87932	D	0	-24.8706	10.3272	0.43801	0.1475:0.0:0.0:0.8524	.	436	Q99424	ACOX2_HUMAN	C	422;436	ENSP00000418562:Y422C;ENSP00000307697:Y436C	ENSP00000307697:Y436C	Y	-	2	0	0	ACOX2	58487272	58487272	1.000000	0.71417	0.718000	0.30602	0.353000	0.29299	5.629000	0.67798	0.782000	0.33613	0.459000	0.35465	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				35	33		141	134	1		1	0		0	0	41	0		1	8.267236e-01	0	0	0	15	0	35	141
FAM3D	131177	broad.mit.edu	37	3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	149					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507																																						ENST00000358781.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				3						c.(445-447)Gat>Aat		family with sequence similarity 3, member D							71.0	67.0	68.0					3																	58622881		2203	4300	6503	SO:0001583	missense	131177	1	121412	31				g.chr3:58622881C>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.445G>A	chr3.hg19:g.58622881C>T	ENSP00000351632:p.Asp149Asn	0					RP11-475O23.3_ENST00000464125.1_RNA	p.D149N	NM_138805.2	NP_620160.1	1	2	3	1.998468	Q96BQ1	FAM3D_HUMAN		8	755	-			Q547G2	Missense_Mutation	SNP	ENST00000358781.2	1	1	hg19	c.445G>A	CCDS2893.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870487	0.91587	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857	T;T;T	0.50001	1.94;1.13;0.76	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.066529	0.64402	D	0.000010	T	0.74450	0.3718	M	0.90542	3.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.80441	-0.1381	10	0.87932	D	0	-50.262	16.5175	0.84304	0.0:1.0:0.0:0.0	.	149	Q96BQ1	FAM3D_HUMAN	N	149;148;112	ENSP00000351632:D149N;ENSP00000417099:D148N;ENSP00000417453:D112N	ENSP00000351632:D149N	D	-	1	0	0	FAM3D	58597921	58597921	1.000000	0.71417	0.970000	0.41538	0.754000	0.42855	6.146000	0.71777	2.559000	0.86315	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_138805			25	25		105	102	1		1	1		0	0	31	0		9.999999e-01	1	0	85	0	77	0	25	105
C3orf67	200844	broad.mit.edu	37	3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000482387.1	-	12	2009	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	C3orf67_ENST00000295966.7_Missense_Mutation_p.P512L			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	638										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)		CTGCTCAGCCGGCTGTTGACT	0.378																																						ENST00000482387.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(1912-1914)cCg>cTg		chromosome 3 open reading frame 67							55.0	57.0	56.0					3																	58739540		2203	4300	6503	SO:0001583	missense	200844	1	121408	34				g.chr3:58739540G>A	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.1913C>T	chr3.hg19:g.58739540G>A	ENSP00000417122:p.Pro638Leu	0					C3orf67_ENST00000295966.7_Missense_Mutation_p.P512L	p.P638L			1	2	3	1.998468	Q6ZVT6	CC067_HUMAN		12	2009	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	1	1	hg19	c.1913C>T		1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486807	0.12641	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.18016	2.27;2.24	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.402448	0.25138	N	0.032848	T	0.18635	0.0447	L	0.36672	1.1	0.42549	D	0.993106	P;D	0.61080	0.802;0.989	B;P	0.48488	0.274;0.579	T	0.00314	-1.1824	10	0.54805	T	0.06	-4.0276	9.7198	0.40295	0.1216:0.0:0.8784:0.0	.	512;638	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	512;638	ENSP00000295966:P512L;ENSP00000417122:P638L	ENSP00000295966:P512L	P	-	2	0	0	C3orf67	58714580	58714580	0.226000	0.23696	0.513000	0.27749	0.514000	0.34195	3.925000	0.56484	2.885000	0.99019	0.650000	0.86243	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.074977	1	0.170000	NM_198463			37	36		172	170	1		1	1		0	0	46	0		1	3.673905e-01	0	2	0	5	0	37	172
C3orf67	200844	broad.mit.edu	37	3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000482387.1	-	5	607	c.511T>C	c.(511-513)Tca>Cca	p.S171P	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S91P			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	171										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)		GGCTGGCATGATCGGTTATTT	0.368																																						ENST00000482387.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(511-513)Tca>Cca		chromosome 3 open reading frame 67							118.0	111.0	113.0					3																	58855183		2203	4300	6503	SO:0001583	missense	200844	0	0					g.chr3:58855183A>G	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.511T>C	chr3.hg19:g.58855183A>G	ENSP00000417122:p.Ser171Pro	0					RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S91P|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P	p.S171P			1	2	3	1.998468	Q6ZVT6	CC067_HUMAN		5	607	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	1	1	hg19	c.511T>C		1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250966	0.39797	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.55052	0.54;0.54;0.54	5.85	3.21	0.36854	5.85	3.21	0.36854	.	0.547984	0.17910	N	0.157884	T	0.45337	0.1337	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.011	T	0.39683	-0.9602	10	0.44086	T	0.13	-1.7827	5.7794	0.18297	0.7533:0.0:0.0873:0.1594	.	91;171	C9J3M8;Q6ZVT6-2	.;.	P	171;171;91	ENSP00000295966:S171P;ENSP00000417122:S171P;ENSP00000417271:S91P	ENSP00000295966:S171P	S	-	1	0	0	C3orf67	58830223	58830223	0.542000	0.26426	0.003000	0.11579	0.347000	0.29111	2.849000	0.48286	1.044000	0.40200	0.533000	0.62120	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_198463			95	92		314	305	1		1	1		0	0	63	0		1	7.616283e-01	0	2	0	9	0	95	314
PTPRG	5793	broad.mit.edu	37	3	61989075	61989075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				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)			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)		GTCTACCTGGCAGATTCAAAG	0.478																																						ENST00000474889.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(421-423)ggC>ggT		protein tyrosine phosphatase, receptor type, G							107.0	104.0	105.0					3																	61989075		2203	4300	6503	SO:0001819	synonymous_variant	5793	0	0					g.chr3:61989075C>T	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.423C>T	chr3.hg19:g.61989075C>T		0					PTPRG_ENST00000295874.10_Silent_p.G141G	p.G141G	NM_002841.3	NP_002832.3	1	2	3	1.998468	P23470	PTPRG_HUMAN		4	800	+			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	1	1	hg19	c.423C>T	CCDS2895.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_002841			89	89		344	343	1		1	1		0	0	85	0		1	9.999707e-01	0	3	0	58	0	89	344
PTPRG	5793	broad.mit.edu	37	3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	337					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)			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)		CTTAGAAAACCCACTGGGGAC	0.448																																						ENST00000474889.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1009-1011)Cca>Tca		protein tyrosine phosphatase, receptor type, G							62.0	64.0	63.0					3																	62153813		2203	4300	6503	SO:0001583	missense	5793	0	0					g.chr3:62153813C>T	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.1009C>T	chr3.hg19:g.62153813C>T	ENSP00000418112:p.Pro337Ser	0					PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	p.P337S	NM_002841.3	NP_002832.3	1	2	3	1.998468	P23470	PTPRG_HUMAN		8	1386	+			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	1	1	hg19	c.1009C>T	CCDS2895.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770178	0.90108	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51071	0.73;0.72	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	T	0.69967	-0.5001	10	0.72032	D	0.01	.	19.4228	0.94729	0.0:1.0:0.0:0.0	.	337;337	P23470-2;P23470	.;PTPRG_HUMAN	S	337	ENSP00000418112:P337S;ENSP00000295874:P337S	ENSP00000295874:P337S	P	+	1	0	0	PTPRG	62128853	62128853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.663000	0.90544	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.158234	1	0.170000	NM_002841			51	51		218	208	1		1	1		0	0	54	0		1	9.999155e-01	0	11	0	52	0	51	218
PTPRG	5793	broad.mit.edu	37	3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1142					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)			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)		CATCCTTATACCAGGAGTAGG	0.393																																						ENST00000474889.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3424-3426)Cca>Tca		protein tyrosine phosphatase, receptor type, G							127.0	120.0	123.0					3																	62259478		2203	4300	6503	SO:0001583	missense	5793	0	0					g.chr3:62259478C>T	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.3424C>T	chr3.hg19:g.62259478C>T	ENSP00000418112:p.Pro1142Ser	0					PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	p.P1142S	NM_002841.3	NP_002832.3	1	2	3	1.998468	P23470	PTPRG_HUMAN		23	3801	+			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	1	1	hg19	c.3424C>T	CCDS2895.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342343	0.81911	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52057	0.68;0.68	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.72118	2.19	0.80722	D	1	D;P;D	0.65815	0.995;0.952;0.992	P;P;P	0.62298	0.727;0.65;0.9	T	0.68550	-0.5379	10	0.72032	D	0.01	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	388;1113;1142	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1142;1113	ENSP00000418112:P1142S;ENSP00000295874:P1113S	ENSP00000295874:P1113S	P	+	1	0	0	PTPRG	62234518	62234518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1		18	2	2	0		0	1	86		86	83	1	2.060000	-20.000000	1	0.170000	NM_002841			84	83		355	351	1		1	1		0	0	86	0		1	1	0	13	0	118	0	84	355
FEZF2	55079	broad.mit.edu	37	3	62356929	62356929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.F361F|FEZF2_ENST00000486811.1_Silent_p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	361					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)			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)		ATTCGCAGACGAAGGGCTTGT	0.572																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.996702	0.990000	1.000000																										0				20						c.(1081-1083)ttC>ttT		FEZ family zinc finger 2							114.0	109.0	111.0					3																	62356929		2203	4300	6503	SO:0001819	synonymous_variant	55079	0	0					g.chr3:62356929G>A	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.1083C>T	chr3.hg19:g.62356929G>A		0					FEZF2_ENST00000475839.1_Silent_p.F361F|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.F361F|PTPRG-AS1_ENST00000490916.1_RNA	p.F361F	NM_018008.3	NP_060478.3	1	2	3	1.998468	Q8TBJ5	FEZF2_HUMAN		4	1377	-		Lung SC(41;0.0262)	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	1	1	hg19	c.1083C>T	CCDS2897.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.142702	1	0.170000	NM_018008			55	55		476	468	0		1			0	0	93	1		1	0	0	0	0	0	0	55	476
FEZF2	55079	broad.mit.edu	37	3	62357998	62357998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.P182P|FEZF2_ENST00000486811.1_Silent_p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	182					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)			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)		GGAGCTCAGACGGCGGGTACG	0.662																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				20						c.(544-546)ccG>ccA		FEZ family zinc finger 2							17.0	23.0	21.0					3																	62357998		2200	4292	6492	SO:0001819	synonymous_variant	55079	2	121114	25				g.chr3:62357998C>T	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.546G>A	chr3.hg19:g.62357998C>T		0					FEZF2_ENST00000475839.1_Silent_p.P182P|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.P182P|PTPRG-AS1_ENST00000490916.1_RNA	p.P182P	NM_018008.3	NP_060478.3	1	2	3	1.998468	Q8TBJ5	FEZF2_HUMAN		2	840	-		Lung SC(41;0.0262)	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	1	1	hg19	c.546G>A	CCDS2897.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_018008			22	22		95	94	0		1			0	0	17	0		9.999994e-01	0	0	0	0	0	0	22	95
CADPS	8618	broad.mit.edu	37	3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000490353.2_Missense_Mutation_p.A438T|CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	438	C2.				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)			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)		GGTTTAGAAGCCTCGGCCTGA	0.453																																						ENST00000383710.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1312-1314)Gct>Act		Ca++-dependent secretion activator							213.0	201.0	205.0					3																	62631410		2203	4300	6503	SO:0001583	missense	8618	0	0					g.chr3:62631410C>T	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.1312G>A	chr3.hg19:g.62631410C>T	ENSP00000373215:p.Ala438Thr	0					CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T	p.A438T	NM_003716.3	NP_003707.2	1	2	3	1.998468	Q9ULU8	CAPS1_HUMAN		6	1661	-		Lung SC(41;0.0452)	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	1	1	hg19	c.1312G>A	CCDS46858.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910819	0.92178	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.44	5.44	0.79542	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.877	D;D;B	0.76071	0.94;0.987;0.398	D	0.85985	0.1485	10	0.66056	D	0.02	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	438;438;438	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	438	ENSP00000373215:A438T;ENSP00000350632:A438T;ENSP00000283269:A438T;ENSP00000418736:A438T	ENSP00000283269:A438T	A	-	1	0	0	CADPS	62606450	62606450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.710000	0.92621	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_003716, NM_183393, NM_183394			125	125		575	568	1		1	0		0	0	144	0		1	7.037377e-01	0	0	0	13	0	125	575
SYNPR	132204	broad.mit.edu	37	3	63600932	63600932	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000295894.5	+	5	942	c.573T>C	c.(571-573)gcT>gcC	p.A191A	SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000478300.1_Silent_p.A211A	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	191	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			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)		TTCTCTGGGCTGGAAACATAT	0.398																																					NSCLC(29;1052 1116 20025 32519)	ENST00000295894.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				8						c.(571-573)gcT>gcC		synaptoporin							44.0	40.0	41.0					3																	63600932		1825	4085	5910	SO:0001819	synonymous_variant	132204	0	0					g.chr3:63600932T>C	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.573T>C	chr3.hg19:g.63600932T>C		0					SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000478300.1_Silent_p.A211A|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A202A	p.A191A	NM_144642.4	NP_653243.1	1	2	3	1.998468	Q8TBG9	SYNPR_HUMAN		5	942	+			B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	1	1	hg19	c.573T>C	CCDS46860.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-17.971680	1	0.170000				26	25		99	98	1		1			0	0	25	0		1	0	0	0	0	0	0	26	99
THOC7	80145	broad.mit.edu	37	3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(337-339)Cga>Tga		THO complex 7 homolog (Drosophila)							173.0	160.0	164.0					3																	63823667		2203	4299	6502	SO:0001587	stop_gained	80145	1	121402	35				g.chr3:63823667G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.337C>T	chr3.hg19:g.63823667G>A	ENSP00000295899:p.Arg113*	0					C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	p.R113*	NM_025075.2	NP_079351.2	1	2	3	1.998468	Q6I9Y2	THOC7_HUMAN		4	449	-			Q6P1L3|Q8WUF2|Q9H5H0	Nonsense_Mutation	SNP	ENST00000295899.5	0	1	hg19	c.337C>T	CCDS2900.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611060	0.87258	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	4.22	0.49857	6.07	4.22	0.49857	.	0.061422	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6777	15.3019	0.73958	0.0:0.0:0.6366:0.3634	.	.	.	.	X	113	.	ENSP00000295899:R113X	R	-	1	2	2	THOC7	63798707	63798707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.828000	0.55753	0.825000	0.34637	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_025075			94	94		467	462	1		1	1		0	0	95	0		1	1	0	4	0	291	0	94	467
ATXN7	6314	broad.mit.edu	37	3	63973863	63973863	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63973863G>A	ENST00000295900.6	+	9	1774	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	ATXN7_ENST00000398590.3_Silent_p.P408P|ATXN7_ENST00000487717.1_Silent_p.P408P|ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	408	Pro-rich.				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)			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)		AGCAACCACCGCAGCCTCTCA	0.517																																						ENST00000295900.6	1.000000	0.120000	2.500000e-01	1.500000e-01	0.190000	0.243998	0.190000	0.190000																										0				35						c.(1222-1224)ccG>ccA		ataxin 7							120.0	136.0	131.0					3																	63973863		1957	4150	6107	SO:0001819	synonymous_variant	6314	1	120944	34				g.chr3:63973863G>A	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.1224G>A	chr3.hg19:g.63973863G>A		0					ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000398590.3_Silent_p.P408P|ATXN7_ENST00000487717.1_Silent_p.P408P|ATXN7_ENST00000538065.1_Silent_p.P408P	p.P408P	NM_000333.3	NP_000324.1	1	2	3	1.998468	O15265	ATX7_HUMAN		9	1774	+		Prostate(884;0.0181)	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	0	1	hg19	c.1224G>A	CCDS43102.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	1		2	2	2	0		0	0	245		245	242	1	2.060000	-1.481800	0	0.170000	NM_000333			23	23		1395	1374	0		1	0		0	0	245	0		9.999992e-01	1.773698e-01	0	1	0	44	0	23	1395
ATXN7	6314	broad.mit.edu	37	3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000295900.6	+	12	2442	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	631					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)			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)		CAGCCTGCTGCTTCAGGGGCG	0.542																																						ENST00000295900.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1891-1893)gCt>gTt		ataxin 7							170.0	178.0	175.0					3																	63981390		2180	4273	6453	SO:0001583	missense	6314	3	121312	38				g.chr3:63981390C>T	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.1892C>T	chr3.hg19:g.63981390C>T	ENSP00000295900:p.Ala631Val	0					ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V	p.A631V	NM_000333.3	NP_000324.1	1	2	3	1.998468	O15265	ATX7_HUMAN		12	2442	+		Prostate(884;0.0181)	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	1	1	hg19	c.1892C>T	CCDS43102.1	1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167233	0.21621	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	2.8	0.32819	5.16	2.8	0.32819	.	0.627928	0.16530	N	0.210399	T	0.13200	0.0320	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.22730	-1.0208	10	0.42905	T	0.14	4.3154	6.6831	0.23131	0.0:0.5747:0.2973:0.1279	.	486;631;631	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	V	631;631;631;631;486	ENSP00000381590:A631V;ENSP00000295900:A631V;ENSP00000420234:A631V;ENSP00000439585:A631V;ENSP00000428277:A486V	ENSP00000295900:A631V	A	+	2	0	0	ATXN7	63956430	63956430	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	1.181000	0.32017	0.304000	0.22809	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	1		17	3	2	1		1	1	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_000333			131	127		526	511	1		1	1		1	0	131	0		1	9.982913e-01	0	13	0	37	0	131	526
ATXN7	6314	broad.mit.edu	37	3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T	rs562913625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000295900.6	+	12	2808	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	753	Ser-rich.				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)			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)		GTAACATCTTCCCATAGCATC	0.557																																						ENST00000295900.6	1.000000	0.230000	5.400000e-01	3.000000e-01	0.400000	0.442110	0.400000	0.390000																										0				35						c.(2257-2259)tCc>tTc		ataxin 7							71.0	74.0	73.0					3																	63981756		2026	4199	6225	SO:0001583	missense	6314	0	0					g.chr3:63981756C>T	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.2258C>T	chr3.hg19:g.63981756C>T	ENSP00000295900:p.Ser753Phe	0					ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F	p.S753F	NM_000333.3	NP_000324.1	1	2	3	1.998468	O15265	ATX7_HUMAN		12	2808	+		Prostate(884;0.0181)	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	1	1	hg19	c.2258C>T	CCDS43102.1	0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043594	0.75732	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.18960	2.18;2.22;2.22;2.18;2.2	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.408743	0.27631	N	0.018516	T	0.32406	0.0828	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.50617	0.8;0.937;0.895	B;P;B	0.49999	0.424;0.628;0.424	T	0.03259	-1.1055	10	0.40728	T	0.16	-1.2999	18.2362	0.89950	0.0:1.0:0.0:0.0	.	608;753;753	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	753;753;753;753;608	ENSP00000381590:S753F;ENSP00000295900:S753F;ENSP00000420234:S753F;ENSP00000439585:S753F;ENSP00000428277:S608F	ENSP00000295900:S753F	S	+	2	0	0	ATXN7	63956796	63956796	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	7.191000	0.77763	2.383000	0.81215	0.650000	0.86243	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.598114	1	0.170000	NM_000333			15	15		441	430	0		1	1		0	0	101	0		9.998507e-01	6.402021e-01	0	6	0	58	0	15	441
PRICKLE2	166336	broad.mit.edu	37	3	64084844	64084844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	806					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)			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)		GCAGCTCATCGCTTGTGACGT	0.537																																						ENST00000295902.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2416-2418)agC>agT		prickle homolog 2 (Drosophila)							93.0	90.0	91.0					3																	64084844		2203	4300	6503	SO:0001819	synonymous_variant	166336	0	0					g.chr3:64084844G>A	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.2418C>T	chr3.hg19:g.64084844G>A		0					PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	p.S806S	NM_198859.3	NP_942559.1	1	2	3	1.998468	Q7Z3G6	PRIC2_HUMAN		8	3003	-		Lung NSC(201;0.136)	Q0VF44	Silent	SNP	ENST00000295902.6	1	1	hg19	c.2418C>T	CCDS2902.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_198859			97	96		442	436	1		1	0		0	0	96	0		1	9.109556e-01	0	0	0	21	0	97	442
PRICKLE2	166336	broad.mit.edu	37	3	64085153	64085153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	703	Arg-rich.				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)			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)		CCTCGCGTTCGCTGGCCAGGT	0.617																																						ENST00000295902.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2107-2109)agC>agT		prickle homolog 2 (Drosophila)							43.0	46.0	45.0					3																	64085153		2203	4300	6503	SO:0001819	synonymous_variant	166336	0	0					g.chr3:64085153G>A	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.2109C>T	chr3.hg19:g.64085153G>A		0					PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	p.S703S	NM_198859.3	NP_942559.1	1	2	3	1.998468	Q7Z3G6	PRIC2_HUMAN		8	2694	-		Lung NSC(201;0.136)	Q0VF44	Silent	SNP	ENST00000295902.6	1	1	hg19	c.2109C>T	CCDS2902.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_198859			84	81		319	313	1		1	0		0	0	76	0		1	9.578889e-01	0	0	0	22	0	84	319
PRICKLE2	166336	broad.mit.edu	37	3	64138976	64138976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	223	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)			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)		TCTCACACTCGAAGCAGCAAA	0.512																																						ENST00000295902.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(667-669)ttC>ttT		prickle homolog 2 (Drosophila)							161.0	142.0	149.0					3																	64138976		2203	4300	6503	SO:0001819	synonymous_variant	166336	0	0					g.chr3:64138976G>A	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.669C>T	chr3.hg19:g.64138976G>A		0					PRICKLE2_ENST00000564377.1_Silent_p.F279F	p.F223F	NM_198859.3	NP_942559.1	1	2	3	1.998468	Q7Z3G6	PRIC2_HUMAN		6	1254	-		Lung NSC(201;0.136)	Q0VF44	Silent	SNP	ENST00000295902.6	1	1	hg19	c.669C>T	CCDS2902.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	0	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-3.406570	1	0.170000	NM_198859			122	121		536	531	1		1	0		0	0	137	0		1	3.852170e-01	0	0	0	7	0	122	536
MAGI1	9223	broad.mit.edu	37	3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					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)			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)		TCTGGGGACCGCCTCTTGGGG	0.711																																						ENST00000402939.2	1.000000	0.190000	4.500000e-01	2.500000e-01	0.330000	0.378628	0.330000	0.320000																										0				51						c.(3961-3963)Cgg>Tgg		membrane associated guanylate kinase, WW and PDZ domain containing 1							36.0	40.0	39.0					3																	65342481		2203	4298	6501	SO:0001583	missense	9223	0	0					g.chr3:65342481G>A	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	ENST00000402939.2:c.3961C>T	chr3.hg19:g.65342481G>A	ENSP00000385450:p.Arg1321Trp	0					MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	p.R1321W	NM_001033057.1	NP_001028229.1	1	2	3	1.998468	Q96QZ7	MAGI1_HUMAN		23	3960	-		Lung NSC(201;0.0016)	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	1	1	hg19	c.3961C>T	CCDS33780.1	0	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495189	0.26774	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	5.31	0.16	0.14972	5.31	0.16	0.14972	.	0.351946	0.28784	N	0.014145	T	0.09512	0.0234	L	0.27053	0.805	0.20764	N	0.99985	D	0.60160	0.987	B	0.43123	0.409	T	0.21655	-1.0239	10	0.72032	D	0.01	-8.2417	9.3632	0.38208	0.0:0.069:0.461:0.47	.	1321	Q96QZ7-2	.	W	1321	ENSP00000385450:R1321W	ENSP00000385450:R1321W	R	-	1	2	2	MAGI1	65317521	65317521	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.548000	0.23314	-0.203000	0.10251	-0.181000	0.13052	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	0	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-12.677210	1	0.170000	NM_004742			15	14		532	521	0		1	0		0	0	70	0		9.998507e-01	1.690222e-02	0	0	0	7	0	15	532
MAGI1	9223	broad.mit.edu	37	3	65415781	65415781	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000497477.2	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.V527V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	527	PDZ 2. {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)			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)		TGTGTCCCAAAACACAGGTGT	0.458																																						ENST00000497477.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				51						c.(1579-1581)gtT>gtG		membrane associated guanylate kinase, WW and PDZ domain containing 1							84.0	69.0	74.0					3																	65415781		2203	4300	6503	SO:0001819	synonymous_variant	9223	0	0					g.chr3:65415781A>C	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.1581T>G	chr3.hg19:g.65415781A>C		0					MAGI1_ENST00000330909.8_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000402939.2_Silent_p.V527V	p.V527V			1	2	3	1.998468	Q96QZ7	MAGI1_HUMAN		12	1580	-		Lung NSC(201;0.0016)	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	1	1	hg19	c.1581T>G		1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.92	0.898	0.19264	5.92	0.898	0.19264	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-20.2447	6.8542	0.24032	0.3073:0.3707:0.322:0.0	.	.	.	.	C	408	.	.	F	-	2	0	0	MAGI1	65390821	65390821	0.822000	0.29219	0.999000	0.59377	0.996000	0.88848	0.027000	0.13621	0.140000	0.18849	0.528000	0.53228	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_004742			32	33		174	169	1		1	1		0	0	44	0		1	9.805652e-01	0	15	0	22	0	32	174
MAGI1	9223	broad.mit.edu	37	3	65425564	65425564	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65425564C>T	ENST00000497477.2	-	9	1259	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	MAGI1_ENST00000483466.1_Silent_p.Q420Q|MAGI1_ENST00000402939.2_Silent_p.Q420Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.Q420Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	420	Poly-Gln.				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)			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)		CTTCTGTctgctgctgctgct	0.557											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497477.2	1.000000	0.350000	6.900000e-01	4.400000e-01	0.550000	0.578774	0.550000	0.540000																										0				51						c.(1258-1260)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							60.0	62.0	61.0					3																	65425564		2203	4300	6503	SO:0001819	synonymous_variant	9223	0	0					g.chr3:65425564C>T	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.1260G>A	chr3.hg19:g.65425564C>T		0		OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000330909.8_Silent_p.Q420Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q420Q|MAGI1_ENST00000402939.2_Silent_p.Q420Q	p.Q420Q			1	2	3	1.998468	Q96QZ7	MAGI1_HUMAN		9	1259	-		Lung NSC(201;0.0016)	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	1	0	hg19	c.1260G>A		0	.	.	.	.	.	.	.	.	.	.	C	3.594	-0.082995	0.07141	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.99	-2.95	0.05564	2.99	-2.95	0.05564	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.30109	N	0.806727	.	.	.	.	.	.	T	0.34650	-0.9820	4	.	.	.	7.9324	3.5147	0.07721	0.1864:0.3158:0.0:0.4978	.	.	.	.	N	301	.	.	S	-	2	0	0	MAGI1	65400604	65400604	0.069000	0.21087	0.269000	0.24586	0.143000	0.21401	-0.541000	0.06099	-0.549000	0.06191	0.454000	0.30748	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	0		2	2	2	0		0	0	93		93	56	1	2.060000	-4.826917	1	0.170000	NM_004742			23	1		483	348	0		0	1		0	0	93	0		9.999688e-01	3.803497e-01	0	2	0	26	0	23	483
MAGI1	9223	broad.mit.edu	37	3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000497477.2	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	156	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)			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)		ATAGTCCACGCCAGGCACTTC	0.478																																						ENST00000497477.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.989973	0.990000	1.000000																										0				51						c.(466-468)gGc>gAc		membrane associated guanylate kinase, WW and PDZ domain containing 1							81.0	74.0	77.0					3																	65479270		2203	4300	6503	SO:0001583	missense	9223	0	0					g.chr3:65479270C>T	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.467G>A	chr3.hg19:g.65479270C>T	ENSP00000424369:p.Gly156Asp	0					MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D	p.G156D			1	2	3	1.998468	Q96QZ7	MAGI1_HUMAN		3	466	-		Lung NSC(201;0.0016)	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	1	1	hg19	c.467G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.007034|5.007034	0.93287|0.93287	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90631|0.90631	0.7062|0.7062	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.995;1.0;1.0;1.0	D|D	0.91138|0.91138	0.4943|0.4943	5|10	.|0.66056	.|D	.|0.02	-22.1782|-22.1782	20.2552|20.2552	0.98417|0.98417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;156;156;156;156	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	T|D	37|156;156;52;31;156;156	.|ENSP00000385450:G156D;ENSP00000331157:G156D;ENSP00000418177:G31D;ENSP00000420323:G156D;ENSP00000424369:G156D	.|ENSP00000331157:G156D	A|G	-|-	1|2	0|0	0|0	MAGI1|MAGI1	65454310|65454310	65454310|65454310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.089000|6.089000	0.71384|0.71384	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCG|GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_004742			26	25		219	215	1		1	1		0	0	58	0		9.999999e-01	9.086904e-01	0	8	0	29	0	26	219
SLC25A26	115286	broad.mit.edu	37	3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000413054.1	+	3	225	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	139					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGGTATCCAAGGGTTGTATCG	0.388																																						ENST00000413054.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999705	0.990000	1.000000																										0				8						c.(151-153)Ggg>Agg		solute carrier family 25 (S-adenosylmethionine carrier), member 26							123.0	116.0	118.0					3																	66313765		2203	4300	6503	SO:0001583	missense	115286	0	0					g.chr3:66313765G>A	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"""Solute carriers"""	20661	protein-coding gene	gene with protein product		611037	"""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"""			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.151G>A	chr3.hg19:g.66313765G>A	ENSP00000415304:p.Gly51Arg	0					SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R	p.G51R			1	2	3	1.998468	Q70HW3	SAMC_HUMAN		3	225	+		Lung NSC(201;0.00774)	A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	1	1	hg19	c.151G>A		1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	D;D	0.83163	-1.69;-1.69	5.54	5.54	0.83059	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.103920	0.64402	D	0.000003	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P	0.49253	0.84;0.921	P;P	0.56960	0.622;0.81	D	0.92796	0.6252	10	0.87932	D	0	-15.2225	19.4905	0.95048	0.0:0.0:1.0:0.0	.	139;139	F8WAB8;Q70HW3	.;SAMC_HUMAN	R	139;51	ENSP00000346955:G139R;ENSP00000336801:G51R	ENSP00000336801:G51R	G	+	1	0	0	SLC25A26	66396455	66396455	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.689000	0.91265	2.601000	0.87937	0.585000	0.79938	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-3.279401	1	0.170000	NM_173471			16	16		72	71	1		1	1		0	0	15	0		9.999586e-01	9.999993e-01	0	38	0	96	0	16	72
LRIG1	26018	broad.mit.edu	37	3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000273261.3	-	18	3394	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	LRIG1_ENST00000383703.3_Missense_Mutation_p.A934V|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	957			A -> T (in dbSNP:rs332373).		innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				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)		ACTTGGCTGTGCGCTGTCTCT	0.632																																						ENST00000273261.3	1.000000	0.340000	6.900000e-01	4.300000e-01	0.540000	0.574643	0.540000	0.520000																										0				42						c.(2869-2871)gCa>gTa		leucine-rich repeats and immunoglobulin-like domains 1							61.0	63.0	62.0					3																	66431186		2203	4300	6503	SO:0001583	missense	26018	0	0					g.chr3:66431186G>A	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.2870C>T	chr3.hg19:g.66431186G>A	ENSP00000273261:p.Ala957Val	0					SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A934V	p.A957V	NM_015541.2	NP_056356.2	1	2	3	1.998468	Q96JA1	LRIG1_HUMAN		18	3394	-		Lung NSC(201;0.0101)	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	1	1	hg19	c.2870C>T	CCDS33783.1	0	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224411	0.09863	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63744	-0.06;-0.03	5.55	-0.703	0.11261	5.55	-0.703	0.11261	.	1.630420	0.03007	N	0.148949	T	0.50565	0.1623	L	0.34521	1.04	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	0.22626	-1.0211	10	0.29301	T	0.29	.	7.8908	0.29677	0.2123:0.3433:0.4444:0.0	.	934;957;957	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	957;934;860	ENSP00000273261:A957V;ENSP00000373208:A934V	ENSP00000273261:A957V	A	-	2	0	0	LRIG1	66513876	66513876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.156000	0.16382	-0.478000	0.06823	-1.316000	0.01300	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	1	0	1		2	2	2	0		0	0	86		86	83	1	2.060000	-19.952280	1	0.170000	NM_015541			21	21		446	434	0		1	1		0	0	86	0		9.999969e-01	9.824173e-01	0	8	0	132	0	21	446
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000273261.3	-	13	2012	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	LRIG1_ENST00000383703.3_Silent_p.Q520Q|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				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)		GGGTGATGATCTGTGGCTTCA	0.537																																						ENST00000273261.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1486-1488)caG>caA		leucine-rich repeats and immunoglobulin-like domains 1							179.0	178.0	178.0					3																	66436706		2203	4300	6503	SO:0001819	synonymous_variant	26018	0	0					g.chr3:66436706C>T	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.1488G>A	chr3.hg19:g.66436706C>T		0					SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.Q520Q	p.Q496Q	NM_015541.2	NP_056356.2	1	2	3	1.998468	Q96JA1	LRIG1_HUMAN		13	2012	-		Lung NSC(201;0.0101)	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	1	1	hg19	c.1488G>A	CCDS33783.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	0	0		2	2	2	0		0	0	202		202	199	1	2.060000	-20.000000	1	0.170000	NM_015541			177	169		783	766	0		1	1		0	0	202	0		1	1	0	37	0	93	0	177	783
LRIG1	26018	broad.mit.edu	37	3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T	rs533974488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000273261.3	-	4	997	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000383703.3_Missense_Mutation_p.C158Y	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	158					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				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)		GTGTGGAAAGCAGGTGTTCCG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.001					ENST00000273261.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(472-474)tGc>tAc		leucine-rich repeats and immunoglobulin-like domains 1							260.0	232.0	241.0					3																	66467583		2203	4300	6503	SO:0001583	missense	26018	6	121412	41				g.chr3:66467583C>T	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.473G>A	chr3.hg19:g.66467583C>T	ENSP00000273261:p.Cys158Tyr	0					LRIG1_ENST00000383703.3_Missense_Mutation_p.C158Y	p.C158Y	NM_015541.2	NP_056356.2	1	2	3	1.998468	Q96JA1	LRIG1_HUMAN		4	997	-		Lung NSC(201;0.0101)	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	1	1	hg19	c.473G>A	CCDS33783.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844997	0.51164	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58652	0.32;0.32	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.104215	0.64402	D	0.000002	T	0.43277	0.1240	N	0.16130	0.375	0.50171	D	0.999854	B;B	0.29612	0.251;0.171	B;B	0.30179	0.112;0.105	T	0.37888	-0.9686	10	0.44086	T	0.13	.	15.6916	0.77457	0.0:0.8637:0.1363:0.0	.	158;158	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	Y	158;158;85	ENSP00000273261:C158Y;ENSP00000373208:C158Y	ENSP00000273261:C158Y	C	-	2	0	0	LRIG1	66550273	66550273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.829000	0.48128	2.792000	0.96026	0.643000	0.83706	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	0	1		2	2	2	0		0	0	219		219	218	1	2.060000	-20.000000	1	0.170000	NM_015541			233	230		961	947	1		1	1		0	0	219	0		1	1	0	45	0	82	0	233	961
KBTBD8	84541	broad.mit.edu	37	3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000417314.2	+	3	1188	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	380						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				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)		CTTCGAGCCAGAATAGGCTGC	0.433																																						ENST00000417314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1138-1140)aGa>aTa		kelch repeat and BTB (POZ) domain containing 8							139.0	133.0	135.0					3																	67054530		2203	4300	6503	SO:0001583	missense	84541	0	0					g.chr3:67054530G>T	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.1139G>T	chr3.hg19:g.67054530G>T	ENSP00000401878:p.Arg380Ile	0					KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron	p.R380I			1	2	3	1.998468	Q8NFY9	KBTB8_HUMAN		3	1188	+		Lung NSC(201;0.0765)	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	1	1	hg19	c.1139G>T	CCDS2906.2	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530339	0.85706	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043526	0.85682	D	0.000000	D	0.91088	0.7195	H	0.96269	3.795	0.80722	D	1	D	0.53462	0.96	P	0.57776	0.827	D	0.93569	0.6902	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	380	Q8NFY9	KBTB8_HUMAN	I	354;380	ENSP00000295568:R354I;ENSP00000401878:R380I	.	R	+	2	0	0	KBTBD8	67137220	67137220	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_032505			115	114		477	471	1		1	1		0	0	142	0		1	4.098728e-01	0	2	0	5	0	115	477
KBTBD8	84541	broad.mit.edu	37	3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000417314.2	+	4	1533	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	495						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				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)		AATCATCAACGTATGTTTACT	0.403																																						ENST00000417314.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1483-1485)cGt>cAt		kelch repeat and BTB (POZ) domain containing 8							122.0	124.0	123.0					3																	67058487		2203	4300	6503	SO:0001583	missense	84541	0	0					g.chr3:67058487G>A	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.1484G>A	chr3.hg19:g.67058487G>A	ENSP00000401878:p.Arg495His	0					KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H	p.R495H			1	2	3	1.998468	Q8NFY9	KBTB8_HUMAN		4	1533	+		Lung NSC(201;0.0765)	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	1	1	hg19	c.1484G>A	CCDS2906.2	1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684935	0.47991	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	5.47	0.80525	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.735555	0.13839	N	0.359220	D	0.86251	0.5888	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.80030	-0.1553	10	0.11182	T	0.66	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	53;495	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	H	469;53;495	ENSP00000295568:R469H;ENSP00000419738:R53H;ENSP00000401878:R495H	ENSP00000295568:R469H	R	+	2	0	0	KBTBD8	67141177	67141177	1.000000	0.71417	0.766000	0.31476	0.950000	0.60333	9.869000	0.99810	2.575000	0.86900	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_032505			91	91		431	422	1		1	0		0	0	125	0		1	6.465075e-01	0	1	0	11	0	91	431
TMF1	7110	broad.mit.edu	37	3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000398559.2	-	8	2221	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	669					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358																																						ENST00000398559.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2005-2007)Gat>Tat		TATA element modulatory factor 1							111.0	102.0	104.0					3																	69087861		1859	4104	5963	SO:0001583	missense	7110	0	0					g.chr3:69087861C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2005G>T	chr3.hg19:g.69087861C>A	ENSP00000381567:p.Asp669Tyr	0					TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	p.D669Y			1	2	3	1.998468	P82094	TMF1_HUMAN		8	2221	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	1	1	hg19	c.2005G>T	CCDS43105.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421412	0.83559	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20738	2.05;2.05	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.047409	0.85682	D	0.000000	T	0.42675	0.1213	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.70935	0.971;0.851	T	0.14980	-1.0453	10	0.72032	D	0.01	-21.9043	19.8709	0.96851	0.0:1.0:0.0:0.0	.	672;669	P82094-2;P82094	.;TMF1_HUMAN	Y	669;672;585	ENSP00000381567:D669Y;ENSP00000438706:D672Y	ENSP00000348582:D585Y	D	-	1	0	0	TMF1	69170551	69170551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.394788	1	0.170000	NM_007114			100	98		448	435	1		1	1		0	0	98	0		1	1	0	20	0	127	0	100	448
TMF1	7110	broad.mit.edu	37	3	69097140	69097140	+	Missense_Mutation	SNP	C	C	T	rs73110228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69097140C>T	ENST00000398559.2	-	2	932	c.716G>A	c.(715-717)aGc>aAc	p.S239N	CTD-2013N24.2_ENST00000482368.2_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.S239N|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	239					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGGTGTATTGCTCTGCCTGTC	0.393													C|||	8	0.00159744	0.0	0.0029	5008	,	,		21833	0.0		0.006	False		,,,				2504	0.0					ENST00000398559.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(715-717)aGc>aAc		TATA element modulatory factor 1		C	ASN/SER	6,3890		0,6,1942	103.0	104.0	103.0		716	4.8	1.0	3	dbSNP_130	103	37,8259		0,37,4111	yes	missense	TMF1	NM_007114.2	46	0,43,6053	TT,TC,CC		0.446,0.154,0.3527	probably-damaging	239/1094	69097140	43,12149	1948	4148	6096	SO:0001583	missense	7110	488	120878	60				g.chr3:69097140C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.716G>A	chr3.hg19:g.69097140C>T	ENSP00000381567:p.Ser239Asn	0					TMF1_ENST00000543976.1_Missense_Mutation_p.S239N|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|MIR3136_ENST00000583498.1_RNA	p.S239N			1	2	3	1.998468	P82094	TMF1_HUMAN		2	932	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	1	0	hg19	c.716G>A	CCDS43105.1	1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	8.293	0.818176	0.16607	0.00154	0.00446	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.78595	-1.19;-1.19	5.72	4.84	0.62591	5.72	4.84	0.62591	.	0.113904	0.85682	D	0.000000	T	0.68659	0.3025	L	0.47190	1.495	0.47245	D	0.999362	B;B	0.24920	0.114;0.069	B;B	0.31946	0.138;0.065	T	0.68488	-0.5395	10	0.33940	T	0.23	-10.1783	16.9045	0.86123	0.0:0.872:0.128:0.0	.	239;239	P82094-2;P82094	.;TMF1_HUMAN	N	239;239;152;239	ENSP00000381567:S239N;ENSP00000438706:S239N	ENSP00000348582:S152N	S	-	2	0	0	TMF1	69179830	69179830	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	3.110000	0.50352	1.417000	0.47077	0.644000	0.83932	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	0	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.238771	1	0.170000	NM_007114			84	83		405	398	1		1	1		0	0	88	0		1	9.999998e-01	0	29	0	79	0	84	405
LMOD3	56203	broad.mit.edu	37	3	69168087	69168087	+	Silent	SNP	C	C	T	rs373942606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000489031.1_Silent_p.S473S|LMOD3_ENST00000475434.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	473						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		TCGGGGCCTGCGATGGCTTTT	0.557																																						ENST00000420581.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1417-1419)tcG>tcA		leiomodin 3 (fetal)		C		1,4099		0,1,2049	67.0	72.0	70.0		1419	-11.7	0.0	3		70	0,8420		0,0,4210	no	coding-synonymous	LMOD3	NM_198271.3		0,1,6259	TT,TC,CC		0.0,0.0244,0.0080		473/561	69168087	1,12519	2050	4210	6260	SO:0001819	synonymous_variant	56203	2	121010	30				g.chr3:69168087C>T	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.1419G>A	chr3.hg19:g.69168087C>T		0					LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	p.S473S	NM_198271.3	NP_938012.2	1	2	3	1.998468	Q0VAK6	LMOD3_HUMAN		2	1598	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	1	1	hg19	c.1419G>A	CCDS46862.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	XM_067529			33	33		150	146	1		1			0	0	44	0		1	0	0	0	0	0	0	33	150
LMOD3	56203	broad.mit.edu	37	3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N|LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	120	Glu-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		TGAGCTTTTCTTTTAAATACT	0.328																																						ENST00000420581.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999036	0.990000	1.000000																										0				13						c.(358-360)aaA>aaC		leiomodin 3 (fetal)							59.0	49.0	52.0					3																	69169146		1829	4083	5912	SO:0001583	missense	56203	0	0					g.chr3:69169146T>G	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.360A>C	chr3.hg19:g.69169146T>G	ENSP00000414670:p.Lys120Asn	0					LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	p.K120N	NM_198271.3	NP_938012.2	1	2	3	1.998468	Q0VAK6	LMOD3_HUMAN		2	539	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	1	1	hg19	c.360A>C	CCDS46862.1	1	.	.	.	.	.	.	.	.	.	.	T	8.956	0.969269	0.18659	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.42513	0.97;0.97;0.97	5.43	1.65	0.23941	5.43	1.65	0.23941	.	1.267940	0.04832	N	0.438860	T	0.42630	0.1211	L	0.57536	1.79	0.19300	N	0.99997	B	0.32010	0.351	B	0.40329	0.326	T	0.32348	-0.9910	10	0.19590	T	0.45	-30.8145	3.7605	0.08602	0.2288:0.2411:0.0:0.5301	.	120	Q0VAK6	LMOD3_HUMAN	N	120	ENSP00000414670:K120N;ENSP00000417210:K120N;ENSP00000418645:K120N	ENSP00000414670:K120N	K	-	3	2	2	LMOD3	69251836	69251836	0.012000	0.17670	0.999000	0.59377	0.752000	0.42762	0.255000	0.18333	0.363000	0.24346	0.482000	0.46254	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-10.444750	1	0.170000	XM_067529			14	13		69	69	0		1			0	0	15	0		9.998303e-01	0	0	0	0	0	0	14	69
MITF	4286	broad.mit.edu	37	3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000448226.2	+	2	294	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000352241.4_Missense_Mutation_p.R56H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	56					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)			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)		ATGACATCACGCATCTTGCTA	0.557			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000448226.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	yes	Waardenburg syndrome type 2, Tietz syndrome	E	E			melanoma		0				30						c.(166-168)cGc>cAc		microphthalmia-associated transcription factor							46.0	53.0	51.0					3																	69928347		2090	4230	6320	SO:0001583	missense	4286	0	0					g.chr3:69928347G>A		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.167G>A	chr3.hg19:g.69928347G>A	ENSP00000391803:p.Arg56His	0					MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000352241.4_Missense_Mutation_p.R56H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H	p.R56H			1	2	3	1.998468	O75030	MITF_HUMAN		2	294	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	1	1	hg19	c.167G>A		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571489	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.63255	1.27;0.82;0.29;-0.03;0.12;0.59;1.41;0.32	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.98;0.997;0.997;0.997;0.991	T	0.81824	-0.0755	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	4;31;40;55;56	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	H	56;56;4;4;4;55;55;40;40;31	ENSP00000295600:R56H;ENSP00000391803:R56H;ENSP00000418845:R4H;ENSP00000391276:R55H;ENSP00000327867:R55H;ENSP00000398639:R40H;ENSP00000324443:R40H;ENSP00000377884:R31H	.	R	+	2	0	0	MITF	70011037	70011037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.814000	0.96858	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_198159			62	60		239	238	1		1	0		0	0	50	0		1	9.965353e-01	0	1	0	35	0	62	239
MITF	4286	broad.mit.edu	37	3	69990401	69990401	+	Silent	SNP	C	C	T	rs199805128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000448226.2	+	5	808	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000352241.4_Silent_p.I227I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000314589.5_Silent_p.I211I			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	227	Transactivation.				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)			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)		ATGATGTAATCGATGACATCA	0.343			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		17492	0.0		0.001	False		,,,				2504	0.0				Melanoma(29;269 969 31479 41502 42961)	ENST00000448226.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	yes	Waardenburg syndrome type 2, Tietz syndrome	E	E			melanoma		0				30						c.(679-681)atC>atT		microphthalmia-associated transcription factor							121.0	114.0	116.0					3																	69990401		2203	4300	6503	SO:0001819	synonymous_variant	4286	2	121406	37				g.chr3:69990401C>T		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.681C>T	chr3.hg19:g.69990401C>T		0					MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000352241.4_Silent_p.I227I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000314589.5_Silent_p.I211I	p.I227I			1	2	3	1.998468	O75030	MITF_HUMAN		5	808	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	1	1	hg19	c.681C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-19.999900	1	0.170000	NM_198159			39	38		158	157	1		1	1		0	0	32	0		1	9.988105e-01	0	2	0	43	0	39	158
MITF	4286	broad.mit.edu	37	3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000448226.2	+	10	1590	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000352241.4_Missense_Mutation_p.D482G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					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)			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)		CTGATGGACGACACCCTTTCT	0.532			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000448226.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	yes	Waardenburg syndrome type 2, Tietz syndrome	E	E			melanoma		0				30						c.(1462-1464)gAc>gGc		microphthalmia-associated transcription factor							146.0	125.0	132.0					3																	70014281		2203	4300	6503	SO:0001583	missense	4286	0	0					g.chr3:70014281A>G		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.1463A>G	chr3.hg19:g.70014281A>G	ENSP00000391803:p.Asp488Gly	0					MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000352241.4_Missense_Mutation_p.D482G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G	p.D488G			1	2	3	1.998468	O75030	MITF_HUMAN		10	1590	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	1	1	hg19	c.1463A>G		1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341746	0.61073	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84585	2.705	0.58432	D	0.999997	D;D;D;D;D;D;P	0.60575	0.988;0.969;0.969;0.968;0.968;0.968;0.936	D;P;P;P;P;P;P	0.62955	0.909;0.688;0.688;0.734;0.734;0.853;0.693	D	0.86112	0.1563	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	430;381;375;457;466;481;482	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	G	482;488;430;481;466;457;375;381;319	ENSP00000295600:D482G;ENSP00000391803:D488G;ENSP00000418845:D430G;ENSP00000327867:D481G;ENSP00000324443:D466G;ENSP00000377884:D457G;ENSP00000324246:D375G;ENSP00000377880:D381G;ENSP00000435909:D319G	.	D	+	2	0	0	MITF	70096971	70096971	1.000000	0.71417	0.909000	0.35828	0.415000	0.31203	6.073000	0.71245	2.371000	0.80710	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_198159			76	73		287	282	1		1	1		0	0	68	0		1	9.999988e-01	0	8	0	70	0	76	287
MITF	4286	broad.mit.edu	37	3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000448226.2	+	10	1637	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000352241.4_Missense_Mutation_p.S498P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	504					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)			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)		TTCCTCAGTGTCCCCCGGAGC	0.532			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000448226.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	yes	Waardenburg syndrome type 2, Tietz syndrome	E	E			melanoma		0				30						c.(1510-1512)Tcc>Ccc		microphthalmia-associated transcription factor							103.0	102.0	102.0					3																	70014328		2203	4300	6503	SO:0001583	missense	4286	0	0					g.chr3:70014328T>C		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.1510T>C	chr3.hg19:g.70014328T>C	ENSP00000391803:p.Ser504Pro	0					MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000352241.4_Missense_Mutation_p.S498P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P	p.S504P			1	2	3	1.998468	O75030	MITF_HUMAN		10	1637	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	1	1	hg19	c.1510T>C		1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571044	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.87827	2.91	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	0.87578	0.998;0.994;0.996;0.996;0.994;0.991;0.998	D	0.90812	0.4702	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	446;397;391;473;482;497;498	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	P	498;504;446;497;482;473;391;397;335	ENSP00000295600:S498P;ENSP00000391803:S504P;ENSP00000418845:S446P;ENSP00000327867:S497P;ENSP00000324443:S482P;ENSP00000377884:S473P;ENSP00000324246:S391P;ENSP00000377880:S397P;ENSP00000435909:S335P	.	S	+	1	0	0	MITF	70097018	70097018	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	0		2	2	2	0		0	0	87		87	85	1	2.060000	-20.000000	1	0.170000	NM_198159			85	83		345	338	1		1	1		0	0	87	0		1	9.978551e-01	0	7	0	33	0	85	345
FOXP1	27086	broad.mit.edu	37	3	71008431	71008431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000318789.4	-	21	2526	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	667					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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478			T	PAX5	ALL																																	ENST00000318789.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	27086	T	forkhead box P1				L	L	PAX5		ALL		0				31						c.(1999-2001)taC>taT		forkhead box P1							203.0	181.0	188.0					3																	71008431		2203	4300	6503	SO:0001819	synonymous_variant	27086	9	121412	43				g.chr3:71008431G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.2001C>T	chr3.hg19:g.71008431G>A		0					FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y	p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	1	2	3	1.998468	Q9H334	FOXP1_HUMAN		21	2526	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	1	1	hg19	c.2001C>T	CCDS2914.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	1	0	1		18	2	2	0		0	1	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_032682			100	95		516	506	0		1	1		0	0	117	0		1	1	0	34	0	136	0	100	516
FOXP1	27086	broad.mit.edu	37	3	71026839	71026839	+	Silent	SNP	G	G	A	rs372403441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000318789.4	-	16	1908	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000468577.1_Silent_p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	461					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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338			T	PAX5	ALL																																	ENST00000318789.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	27086	T	forkhead box P1				L	L	PAX5		ALL		0				31						c.(1381-1383)aaC>aaT		forkhead box P1		A		1,4405	2.1+/-5.4	0,1,2202	126.0	131.0	129.0		1383	-8.8	0.3	3		129	0,8600		0,0,4300	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		461/678	71026839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27086	6	121412	38				g.chr3:71026839G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1383C>T	chr3.hg19:g.71026839G>A		0					FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000493089.1_Silent_p.N460N	p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	1	2	3	1.998468	Q9H334	FOXP1_HUMAN		16	1908	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	1	1	hg19	c.1383C>T	CCDS2914.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_032682			70	69		303	299	1		1	1		0	0	73	0		1	1	0	40	0	138	0	70	303
FOXP1	27086	broad.mit.edu	37	3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000318789.4	-	10	1114	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	197	Gln-rich.				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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517			T	PAX5	ALL																																	ENST00000318789.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		3	3p14.1	3p14.1	27086	T	forkhead box P1				L	L	PAX5		ALL		0				31						c.(589-591)Ctg>Atg		forkhead box P1							134.0	133.0	133.0					3																	71096168		2203	4300	6503	SO:0001583	missense	27086	0	0					g.chr3:71096168G>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.589C>A	chr3.hg19:g.71096168G>T	ENSP00000318902:p.Leu197Met	0					FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M	p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	1	2	3	1.998468	Q9H334	FOXP1_HUMAN		10	1114	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	1	1	hg19	c.589C>A	CCDS2914.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118467	0.77323	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.49139	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.62;0.79	6.03	4.23	0.50019	6.03	4.23	0.50019	.	0.226640	0.38959	N	0.001509	T	0.66208	0.2766	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;D;D;D	0.78314	0.991;0.986;0.969;0.969	T	0.67612	-0.5626	10	0.54805	T	0.06	.	13.3988	0.60870	0.1291:0.0:0.8709:0.0	.	196;197;121;197	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	M	197;97;197;197;93;199;197;197;121;197;97;97	ENSP00000318902:L197M;ENSP00000419393:L197M;ENSP00000418225:L93M;ENSP00000420736:L199M;ENSP00000418524:L197M;ENSP00000418102:L197M;ENSP00000417857:L121M;ENSP00000418883:L197M;ENSP00000417941:L97M;ENSP00000418784:L97M	ENSP00000318902:L197M	L	-	1	2	2	FOXP1	71178858	71178858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	0.855000	0.35359	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	0	0	1		19	3	2	1		1	1	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_032682			208	205		722	714	1		1	1		1	0	171	0		1	9.999926e-01	0	24	0	45	0	208	722
SHQ1	55164	broad.mit.edu	37	3	72890250	72890250	+	Silent	SNP	C	C	T	rs545943497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	144					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423																																						ENST00000325599.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(430-432)ccG>ccA		SHQ1, H/ACA ribonucleoprotein assembly factor							175.0	163.0	167.0					3																	72890250		2203	4300	6503	SO:0001819	synonymous_variant	55164	1	121412	35				g.chr3:72890250C>T	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.432G>A	chr3.hg19:g.72890250C>T		0					SHQ1_ENST00000463369.1_Silent_p.P116P	p.P144P	NM_018130.2	NP_060600.2	1	2	3	1.998468	Q6PI26	SHQ1_HUMAN		4	571	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	1	1	hg19	c.432G>A	CCDS33788.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-3.152698	1	0.170000	NM_018130			112	112		551	537	1		1	1		0	0	129	0		1	9.978579e-01	0	15	0	32	0	112	551
EBLN2	55096	broad.mit.edu	37	3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	239										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443																																						ENST00000533473.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(715-717)Gcc>Acc		endogenous Bornavirus-like nucleoprotein 2							164.0	168.0	167.0					3																	73111947		1945	4147	6092	SO:0001583	missense	55096	0	0					g.chr3:73111947G>A		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.715G>A	chr3.hg19:g.73111947G>A	ENSP00000432104:p.Ala239Thr	0					PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	p.A239T	NM_018029.3	NP_060499.3	1	2	3	1.998468	Q6P2I7	EBLN2_HUMAN		1	1138	+			Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	1	1	hg19	c.715G>A	CCDS54608.1	1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810902	0.32053	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.22906	-1.0203	7	0.87932	D	0	.	.	.	.	.	239	Q6P2I7	EBLN2_HUMAN	T	239	.	ENSP00000432104:A239T	A	+	1	0	0	EBLN2	73194637	73194637	0.039000	0.19947	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	0.488000	0.27723	0.491000	0.48974	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	0	0	1		2	2	2	0		0	0	186		186	185	1	2.060000	-20.000000	1	0.170000	NM_018029			144	141		699	690	1		1	0		0	0	186	0		1	2.961378e-02	0	0	0	2	0	144	699
PDZRN3	23024	broad.mit.edu	37	3	73432936	73432936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000263666.4	-	10	2895	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.S584S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	927					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)			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)		GCGTCCCGTCGCTGCGGATCT	0.667																																						ENST00000263666.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2779-2781)agC>agT		PDZ domain containing ring finger 3							37.0	36.0	36.0					3																	73432936		2203	4300	6503	SO:0001819	synonymous_variant	23024	1	121406	25				g.chr3:73432936G>A	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.2781C>T	chr3.hg19:g.73432936G>A		0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000462146.2_Silent_p.S584S	p.S927S	NM_015009.1	NP_055824.1	1	2	3	1.998468	Q9UPQ7	PZRN3_HUMAN		10	2895	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	1	1	hg19	c.2781C>T	CCDS33789.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.606|5.606	0.296515|0.296515	0.10622|0.10622	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000416926	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.58850|.	0.2151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53809|.	-0.8386|.	4|.	.|0.36615	.|T	.|0.2	.|.	9.4405|9.4405	0.38666|0.38666	0.3016:0.0:0.6984:0.0|0.3016:0.0:0.6984:0.0	.|.	.|.	.|.	.|.	V|X	243|647	.|.	.|ENSP00000392657:R647X	A|R	-|-	2|1	0|2	0|2	PDZRN3|PDZRN3	73515626|73515626	73515626|73515626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	0.602000|0.602000	0.24134|0.24134	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCG|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	XM_041363			73	72		319	311	0		1	0		0	0	46	0		1	9.887349e-01	0	0	0	33	0	73	319
PDZRN3	23024	broad.mit.edu	37	3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000263666.4	-	10	2632	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	840					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)			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)		CTGGCTCTCCGCTCTTTGCTT	0.637																																						ENST00000263666.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2518-2520)Cgg>Tgg		PDZ domain containing ring finger 3							39.0	45.0	43.0					3																	73433199		2201	4300	6501	SO:0001583	missense	23024	0	0					g.chr3:73433199G>A	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.2518C>T	chr3.hg19:g.73433199G>A	ENSP00000263666:p.Arg840Trp	0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W	p.R840W	NM_015009.1	NP_055824.1	1	2	3	1.998468	Q9UPQ7	PZRN3_HUMAN		10	2632	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	1	1	hg19	c.2518C>T	CCDS33789.1	1	.	.	.	.	.	.	.	.	.	.	G	7.632	0.679032	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11495	2.77;3.48;3.38;3.38;3.49	5.16	-1.19	0.09585	5.16	-1.19	0.09585	.	3.246850	0.00914	N	0.002509	T	0.31857	0.0810	M	0.70595	2.14	0.20074	N	0.999931	D;D;D;D	0.89917	0.993;0.999;0.995;1.0	P;P;P;D	0.66084	0.84;0.708;0.462;0.941	T	0.38001	-0.9681	10	0.87932	D	0	.	10.5668	0.45177	0.0:0.0834:0.333:0.5836	.	562;557;557;840	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	W	840;562;497;497;557	ENSP00000263666:R840W;ENSP00000442026:R562W;ENSP00000418168:R497W;ENSP00000418484:R497W;ENSP00000418624:R557W	ENSP00000263666:R840W	R	-	1	2	2	PDZRN3	73515889	73515889	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.126000	0.11682	-0.175000	0.13238	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1		2	2	2	0		0	0	98		98	95	1	2.060000	-20.000000	1	0.170000	XM_041363			100	97		390	380	1		1	0		0	0	98	0		1	9.995885e-01	0	0	0	47	0	100	390
PDZRN3	23024	broad.mit.edu	37	3	73433317	73433317	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.A457A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800					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)			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)		CTGGCCCGTAGGCTTCCGTGG	0.652																																						ENST00000263666.4	1.000000	0.090000	3.300000e-01	1.400000e-01	0.220000	0.274448	0.220000	0.210000																										0				69						c.(2398-2400)gcC>gcA		PDZ domain containing ring finger 3							47.0	51.0	49.0					3																	73433317		2203	4300	6503	SO:0001819	synonymous_variant	23024	1	121412	24				g.chr3:73433317G>T	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.2400C>A	chr3.hg19:g.73433317G>T		0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000462146.2_Silent_p.A457A	p.A800A	NM_015009.1	NP_055824.1	1	2	3	1.998468	Q9UPQ7	PZRN3_HUMAN		10	2514	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	0	1	hg19	c.2400C>A	CCDS33789.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-6.971014	1	0.170000	XM_041363			7	7		395	386	0		1	0		0	0	59	0		9.791942e-01	1.103852e-01	0	0	0	28	0	7	395
PDZRN3	23024	broad.mit.edu	37	3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000263666.4	-	10	2192	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	693					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)			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)		CTCGATGCTGCGCAGCTCTTC	0.632																																						ENST00000263666.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2077-2079)cGc>cAc		PDZ domain containing ring finger 3							37.0	32.0	34.0					3																	73433639		2203	4300	6503	SO:0001583	missense	23024	1	121412	32				g.chr3:73433639C>T	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.2078G>A	chr3.hg19:g.73433639C>T	ENSP00000263666:p.Arg693His	0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H	p.R693H	NM_015009.1	NP_055824.1	1	2	3	1.998468	Q9UPQ7	PZRN3_HUMAN		10	2192	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	1	1	hg19	c.2078G>A	CCDS33789.1	1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189810	0.57909	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.18657	2.2;2.94;2.86;2.86;2.96;2.83	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.053685	0.85682	D	0.000000	T	0.25606	0.0623	L	0.52206	1.635	0.80722	D	1	P;B;B;B	0.45283	0.855;0.163;0.373;0.163	P;B;B;B	0.46144	0.505;0.021;0.066;0.021	T	0.01159	-1.1433	10	0.49607	T	0.09	.	11.4627	0.50219	0.0:0.9168:0.0:0.0832	.	415;410;410;693	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	693;415;350;350;410;391	ENSP00000263666:R693H;ENSP00000442026:R415H;ENSP00000418168:R350H;ENSP00000418484:R350H;ENSP00000418624:R410H;ENSP00000419250:R391H	ENSP00000263666:R693H	R	-	2	0	0	PDZRN3	73516329	73516329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.324000	0.78689	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	XM_041363			53	51		229	228	1		1	0		0	0	43	0		1	9.958579e-01	0	0	0	39	0	53	229
PDZRN3	23024	broad.mit.edu	37	3	73434832	73434832	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000263666.4	-	9	1737	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.S198S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	541					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)			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)		GCTGCAGCACGCTAGCTGTGA	0.552																																						ENST00000263666.4	1.000000	0.290000	6.300000e-01	3.800000e-01	0.480000	0.520575	0.480000	0.460000																										0				69						c.(1621-1623)agC>agT		PDZ domain containing ring finger 3							195.0	146.0	162.0					3																	73434832		2203	4300	6503	SO:0001819	synonymous_variant	23024	0	0					g.chr3:73434832G>A	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.1623C>T	chr3.hg19:g.73434832G>A		0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000462146.2_Silent_p.S198S	p.S541S	NM_015009.1	NP_055824.1	1	2	3	1.998468	Q9UPQ7	PZRN3_HUMAN		9	1737	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	1	1	hg19	c.1623C>T	CCDS33789.1	0	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092566	0.08632	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.58	-1.85	0.07784	5.58	-1.85	0.07784	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51733	-0.8668	4	.	.	.	.	11.2905	0.49247	0.4454:0.0:0.5546:0.0	.	.	.	.	V	138	.	.	A	-	2	0	0	PDZRN3	73517522	73517522	1.000000	0.71417	0.028000	0.17463	0.442000	0.32017	0.853000	0.27777	-0.792000	0.04480	-0.812000	0.03155	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.111364	1	0.170000	XM_041363			18	18		432	428	0		1	0		0	0	70	0		9.999814e-01	4.163902e-01	0	0	0	34	0	18	432
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	303	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398																																						ENST00000263665.6	1.000000	0.970000	1	9.900000e-01	0.990000	0.997455	0.990000	1.000000																										0				83						c.(907-909)Cga>Tga		contactin 3 (plasmacytoma associated)							74.0	70.0	71.0					3																	74418379		2203	4299	6502	SO:0001587	stop_gained	5067	0	0					g.chr3:74418379G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.907C>T	chr3.hg19:g.74418379G>A	ENSP00000263665:p.Arg303*	0						p.R303*	NM_020872.1	NP_065923.1	1	2	3	1.998468	Q9P232	CNTN3_HUMAN		7	934	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	0	1	hg19	c.907C>T	CCDS33790.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.931654	0.97116	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.01	1.64	0.23874	5.01	1.64	0.23874	.	0.062472	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1043	0.59239	0.0:0.0:0.4209:0.5791	.	.	.	.	X	303	.	ENSP00000263665:R303X	R	-	1	2	2	CNTN3	74501069	74501069	0.988000	0.35896	0.957000	0.39632	0.991000	0.79684	2.049000	0.41288	0.429000	0.26202	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-11.815810	1	0.170000	NM_020872			23	23		162	159	1		1	0		0	0	44	0		9.999995e-01	8.461914e-02	0	0	0	4	0	23	162
CNTN3	5067	broad.mit.edu	37	3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAATTCTCAGCAATGCATTC	0.428																																						ENST00000263665.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999250	0.990000	1.000000																										0				83						c.(895-897)gCt>gAt		contactin 3 (plasmacytoma associated)							75.0	71.0	72.0					3																	74418390		2203	4299	6502	SO:0001583	missense	5067	0	0					g.chr3:74418390G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.896C>A	chr3.hg19:g.74418390G>T	ENSP00000263665:p.Ala299Asp	0						p.A299D	NM_020872.1	NP_065923.1	1	2	3	1.998468	Q9P232	CNTN3_HUMAN		7	923	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	1	1	hg19	c.896C>A	CCDS33790.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376990	0.82682	.	.	ENSG00000113805	ENST00000263665	T	0.76968	-1.06	5.05	4.17	0.49024	5.05	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.059653	0.64402	D	0.000002	D	0.91831	0.7415	H	0.96861	3.895	0.50467	D	0.999876	D	0.89917	1.0	D	0.80764	0.994	D	0.94446	0.7663	10	0.87932	D	0	.	15.5641	0.76277	0.0:0.1382:0.8618:0.0	.	299	Q9P232	CNTN3_HUMAN	D	299	ENSP00000263665:A299D	ENSP00000263665:A299D	A	-	2	0	0	CNTN3	74501080	74501080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.000000	0.93564	1.117000	0.41842	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_020872			26	26		169	167	1		1	0		0	0	51	0		9.999999e-01	5.249598e-02	0	0	0	3	0	26	169
CNTN3	5067	broad.mit.edu	37	3	74420531	74420531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	158	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATTGAAGATCCAAGCAT	0.393																																						ENST00000263665.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999569	0.990000	1.000000																										0				83						c.(472-474)atC>atT		contactin 3 (plasmacytoma associated)							69.0	67.0	68.0					3																	74420531		2203	4300	6503	SO:0001819	synonymous_variant	5067	0	0					g.chr3:74420531G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.474C>T	chr3.hg19:g.74420531G>A		0						p.I158I	NM_020872.1	NP_065923.1	1	2	3	1.998468	Q9P232	CNTN3_HUMAN		5	501	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	1	1	hg19	c.474C>T	CCDS33790.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_020872			28	28		178	174	1		1	0		0	0	61	0		1	5.413008e-02	0	0	0	3	0	28	178
ROBO2	6092	broad.mit.edu	37	3	75986709	75986709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	ENST00000487694.3	+	2	344	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	6					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)			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)		CTGTTGATGATGACTGTGGTG	0.463																																						ENST00000487694.3	1.000000	0.560000	1	7.800000e-01	0.990000	0.923008	0.990000	1.000000																										0				117						c.(64-66)aTg>aCg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							72.0	64.0	66.0					3																	75986709		876	1991	2867	SO:0001583	missense	6092	0	0					g.chr3:75986709T>C	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	ENST00000487694.3:c.65T>C	chr3.hg19:g.75986709T>C	ENSP00000417335:p.Met22Thr	0						p.M22T	NM_001128929.2	NP_001122401.1	1	2	3	1.998468	Q9HCK4	ROBO2_HUMAN		2	344	+			O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000487694.3	1	1	hg19	c.65T>C	CCDS54609.1	1	.	.	.	.	.	.	.	.	.	.	T	0.582	-0.836472	0.02692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019	T	0.60797	0.16	4.5	3.33	0.38152	4.5	3.33	0.38152	.	.	.	.	.	T	0.41351	0.1155	N	0.08118	0	0.19945	N	0.999947	.	.	.	.	.	.	T	0.53725	-0.8398	6	0.87932	D	0	.	9.5773	0.39465	0.0:0.0946:0.0:0.9054	.	.	.	.	T	22	ENSP00000417335:M22T	ENSP00000342509:M22T	M	+	2	0	0	ROBO2	76069399	76069399	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.998000	0.40796	0.306000	0.22856	-1.525000	0.00928	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ROBO2-013	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000467720.1	0	0	1		2	2	2	0		0	0	26		26	28	1	2.060000	-16.208810	1	0.170000	XM_031246			10	9		103	96	0		1			0	0	26	0		9.960909e-01	0	0	0	0	0	0	10	103
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000487694.3_Silent_p.A70A|ROBO2_ENST00000332191.8_Silent_p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				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)			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)		ACTGCAAGGCGGAGGGCCGGC	0.617																																						ENST00000461745.1	1.000000	0.380000	9.200000e-01	5.100000e-01	0.680000	0.705634	0.680000	1.000000																										0				117						c.(160-162)gcG>gcA		roundabout, axon guidance receptor, homolog 2 (Drosophila)							53.0	59.0	57.0					3																	77147265		1980	4165	6145	SO:0001819	synonymous_variant	6092	0	0					g.chr3:77147265G>A	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.162G>A	chr3.hg19:g.77147265G>A		0					ROBO2_ENST00000487694.3_Silent_p.A70A|ROBO2_ENST00000332191.8_Silent_p.A54A	p.A54A	NM_002942.4	NP_002933.1	1	2	3	1.998468	Q9HCK4	ROBO2_HUMAN		2	1062	+			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	1	1	hg19	c.162G>A	CCDS43109.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1		2	2	2	0		0	0	43		43	40	1	2.060000	-3.323781	1	0.170000	XM_031246			13	13		219	211	0		1	0		0	0	43	0		9.994681e-01	1.093881e-02	0	0	0	3	0	13	219
ROBO2	6092	broad.mit.edu	37	3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000461745.1	+	19	3664	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	922					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)			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)		TCCCAGCTATCCATGGCTTGC	0.458																																						ENST00000461745.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(2764-2766)Cca>Tca		roundabout, axon guidance receptor, homolog 2 (Drosophila)							137.0	133.0	135.0					3																	77645811		1860	4110	5970	SO:0001583	missense	6092	0	0					g.chr3:77645811C>T	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.2764C>T	chr3.hg19:g.77645811C>T	ENSP00000417164:p.Pro922Ser	0					ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S	p.P922S	NM_002942.4	NP_002933.1	1	2	3	1.998468	Q9HCK4	ROBO2_HUMAN		19	3664	+			O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	1	1	hg19	c.2764C>T	CCDS43109.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182120	0.78677	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67698	-0.28;-0.24;-0.18	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.45606	D	0.000341	D	0.83422	0.5251	M	0.76838	2.35	0.32123	N	0.587765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.81420	-0.0941	9	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	938;922;922	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	938;938;942;922;922	ENSP00000417335:P938S;ENSP00000417164:P922S;ENSP00000327536:P922S	ENSP00000327536:P922S	P	+	1	0	0	ROBO2	77728501	77728501	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	7.270000	0.78493	2.937000	0.99478	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	XM_031246			133	127		581	577	1		1	0		0	0	124	0		1	4.577318e-01	0	0	0	8	0	133	581
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000487694.3_Silent_p.A1237A|ROBO2_ENST00000332191.8_Silent_p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					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)			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)		ATGATGATGCCGACGACGAAG	0.498																																						ENST00000461745.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				117						c.(3661-3663)gcC>gcT		roundabout, axon guidance receptor, homolog 2 (Drosophila)							122.0	122.0	122.0					3																	77671486		1923	4148	6071	SO:0001819	synonymous_variant	6092	2	120858	33				g.chr3:77671486C>T	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.3663C>T	chr3.hg19:g.77671486C>T		0					ROBO2_ENST00000487694.3_Silent_p.A1237A|ROBO2_ENST00000332191.8_Silent_p.A1221A	p.A1221A	NM_002942.4	NP_002933.1	1	2	3	1.998468	Q9HCK4	ROBO2_HUMAN		23	4563	+			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	1	1	hg19	c.3663C>T	CCDS43109.1	1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	2	ROBO2	77754176	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-2.778498	1	0.170000	XM_031246			61	60		287	278	1		1	0		0	0	79	0		1	7.668212e-01	0	0	0	15	0	61	287
ROBO1	6091	broad.mit.edu	37	3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000464233.1	-	26	3977	c.3864G>T	c.(3862-3864)caG>caT	p.Q1288H	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1288					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)			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)		TCCTGTCGGGCTGGTGCTGCA	0.488																																						ENST00000464233.1	1.000000	0.800000	1	9.900000e-01	0.990000	0.987476	0.990000	1.000000																										0				44						c.(3862-3864)caG>caT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							48.0	54.0	52.0					3																	78676482		2154	4260	6414	SO:0001583	missense	6091	0	0					g.chr3:78676482C>A	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.3864G>T	chr3.hg19:g.78676482C>A	ENSP00000420321:p.Gln1288His	0					ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H	p.Q1288H	NM_002941.3	NP_002932.1	1	2	3	1.998468	Q9Y6N7	ROBO1_HUMAN		26	3977	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	1	1	hg19	c.3864G>T	CCDS54611.1	1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081801	0.07141	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61392	0.13;0.11;0.11;0.13	5.08	-8.7	0.00851	5.08	-8.7	0.00851	.	0.407517	0.29383	N	0.012309	T	0.33177	0.0854	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.13407	0.0;0.0;0.0;0.0;0.009	T	0.17228	-1.0376	9	.	.	.	.	12.3366	0.55071	0.0979:0.5823:0.0:0.3199	.	1252;1288;1243;1188;1249	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1249;1243;1288;1243;1188;1292	ENSP00000406043:Q1249H;ENSP00000420321:Q1288H;ENSP00000420637:Q1243H;ENSP00000417992:Q1188H	.	Q	-	3	2	2	ROBO1	78759172	78759172	0.000000	0.05858	0.012000	0.15200	0.161000	0.22273	-2.170000	0.01268	-1.238000	0.02535	-0.340000	0.08031	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.502840	1	0.170000	NM_002941			12	12		86	83	1		1	0		0	0	23	0		9.991756e-01	9.727242e-01	0	0	0	47	0	12	86
ROBO1	6091	broad.mit.edu	37	3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000464233.1	-	25	3622	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					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)			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)		CTTGGGTGTTCTTGCCCCTTT	0.468																																						ENST00000464233.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999355	0.990000	1.000000																										0				44						c.(3508-3510)aGa>aTa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							164.0	163.0	164.0					3																	78680428		2061	4190	6251	SO:0001583	missense	6091	0	0					g.chr3:78680428C>A	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.3509G>T	chr3.hg19:g.78680428C>A	ENSP00000420321:p.Arg1170Ile	0					ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I	p.R1170I	NM_002941.3	NP_002932.1	1	2	3	1.998468	Q9Y6N7	ROBO1_HUMAN		25	3622	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	1	1	hg19	c.3509G>T	CCDS54611.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998365|4.998365	0.93227|0.93227	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90410	.|0.6998	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;D;P;B	.|0.69078	.|0.997;0.294;0.973;0.883;0.264	.|D;B;P;B;B	.|0.80764	.|0.994;0.171;0.713;0.272;0.196	.|D	.|0.88927	.|0.3370	.|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1170;1125;1070;1131	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	X|I	97|1131;1125;1170;1125;1070;1174	.|ENSP00000406043:R1131I;ENSP00000420321:R1170I;ENSP00000420637:R1125I;ENSP00000417992:R1070I	.|.	E|R	-|-	1|2	0|0	0|0	ROBO1|ROBO1	78763118|78763118	78763118|78763118	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.932000|0.932000	0.56968|0.56968	7.445000|7.445000	0.80570|0.80570	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAA|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_002941			20	20		115	110	1		1	0		0	0	25	0		9.999959e-01	9.826068e-01	0	0	0	41	0	20	115
ROBO1	6091	broad.mit.edu	37	3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000464233.1	-	19	2783	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	890					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)			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)		CCACATCTGAAATCTGCTGAG	0.498																																						ENST00000464233.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2668-2670)atT>atG		roundabout, axon guidance receptor, homolog 1 (Drosophila)							142.0	140.0	141.0					3																	78701024		2040	4192	6232	SO:0001583	missense	6091	0	0					g.chr3:78701024A>C	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.2670T>G	chr3.hg19:g.78701024A>C	ENSP00000420321:p.Ile890Met	0					ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M	p.I890M	NM_002941.3	NP_002932.1	1	2	3	1.998468	Q9Y6N7	ROBO1_HUMAN		19	2783	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	1	1	hg19	c.2670T>G	CCDS54611.1	1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965960	0.34659	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.0;-0.03;-0.01;0.08	5.98	-3.3	0.05003	5.98	-3.3	0.05003	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.44221	D	0.997057	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	D;D;D;D;D	0.85130	0.994;0.974;0.997;0.95;0.963	T	0.66384	-0.5937	9	.	.	.	.	12.2667	0.54683	0.2272:0.0:0.6642:0.1086	.	854;890;854;854;851	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	M	851;854;890;854;854;894	ENSP00000406043:I851M;ENSP00000420321:I890M;ENSP00000420637:I854M;ENSP00000417992:I854M	.	I	-	3	3	3	ROBO1	78783714	78783714	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	0.902000	0.28459	-0.923000	0.03785	-1.054000	0.02325	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000	NM_002941			117	116		507	498	1		1	0		0	0	143	0		1	9.998479e-01	0	0	0	57	0	117	507
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T	rs199577218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000464233.1	-	15	2187	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	692	Fibronectin type-III 2. {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)			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)		CAGTGCACTTCGATGGAAGAG	0.463																																						ENST00000464233.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999789	0.990000	1.000000																										0				44						c.(2074-2076)Gaa>Aaa		roundabout, axon guidance receptor, homolog 1 (Drosophila)		C	LYS/GLU,LYS/GLU,LYS/GLU	0,3862		0,0,1931	71.0	78.0	76.0		1966,2074,1966	5.4	1.0	3		76	3,8277		0,3,4137	yes	missense,missense,missense	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	56,56,56	0,3,6068	TT,TC,CC		0.0362,0.0,0.0247	benign,benign,benign	656/1552,692/1652,656/1607	78711157	3,12139	1931	4140	6071	SO:0001583	missense	6091	16	120822	41				g.chr3:78711157C>T	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.2074G>A	chr3.hg19:g.78711157C>T	ENSP00000420321:p.Glu692Lys	0					ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K	p.E692K	NM_002941.3	NP_002932.1	1	2	3	1.998468	Q9Y6N7	ROBO1_HUMAN		15	2187	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	1	1	hg19	c.2074G>A	CCDS54611.1	1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417834	0.42918	0.0	3.62E-4	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.42	5.42	0.78866	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136555	0.64402	D	0.000003	T	0.41880	0.1178	N	0.19112	0.55	0.40617	D	0.98172	B;B;B;P;B;B	0.45212	0.221;0.066;0.422;0.853;0.066;0.053	B;B;B;B;B;B	0.41271	0.039;0.032;0.19;0.352;0.032;0.031	T	0.30031	-0.9992	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	656;656;692;656;656;653	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	653;656;692;656;656;696	ENSP00000406043:E653K;ENSP00000420321:E692K;ENSP00000420637:E656K;ENSP00000417992:E656K	.	E	-	1	0	0	ROBO1	78793847	78793847	0.983000	0.35010	0.983000	0.44433	0.985000	0.73830	2.454000	0.44979	2.516000	0.84829	0.555000	0.69702	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-3.511522	1	0.170000	NM_002941			14	14		52	51	1		1	0		0	0	13	0		9.998502e-01	9.960382e-01	0	0	0	39	0	14	52
ROBO1	6091	broad.mit.edu	37	3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000464233.1	-	11	1650	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	513	Ig-like C2-type 5.				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)			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)		TTAGCATATCGGATCTGCAGT	0.443																																						ENST00000464233.1	1.000000	0.630000	1	8.900000e-01	0.990000	0.956282	0.990000	1.000000																										0				44						c.(1537-1539)Cga>Tga		roundabout, axon guidance receptor, homolog 1 (Drosophila)							92.0	93.0	92.0					3																	78719257		1968	4154	6122	SO:0001587	stop_gained	6091	0	0					g.chr3:78719257G>A	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.1537C>T	chr3.hg19:g.78719257G>A	ENSP00000420321:p.Arg513*	0					ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*	p.R513*	NM_002941.3	NP_002932.1	1	2	3	1.998468	Q9Y6N7	ROBO1_HUMAN		11	1650	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	0	1	hg19	c.1537C>T	CCDS54611.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.388750	0.97529	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	.	.	.	5.78	4.89	0.63831	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0177	0.71600	0.0:0.0:0.7413:0.2587	.	.	.	.	X	474;477;513;477;477;513;46	.	.	R	-	1	2	2	ROBO1	78801947	78801947	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.100000	0.50275	1.405000	0.46838	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-2.809485	1	0.170000	NM_002941			10	10		89	88	1		1	0		0	0	34	0		9.972326e-01	9.195658e-01	0	0	0	42	0	10	89
GBE1	2632	broad.mit.edu	37	3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	491					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)			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)		CAACCAAAATGCCAGCGACTT	0.358									Glycogen Storage Disease, type IV																													ENST00000429644.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999856	0.990000	1.000000																										0				18						c.(1471-1473)gCa>gTa		glucan (1,4-alpha-), branching enzyme 1							69.0	63.0	65.0					3																	81627222		1896	4117	6013	SO:0001583	missense	2632	0	0		Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	g.chr3:81627222G>A		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.1472C>T	chr3.hg19:g.81627222G>A	ENSP00000410833:p.Ala491Val	0					GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	p.A491V	NM_000158.3	NP_000149	1	2	3	1.998468	Q04446	GLGB_HUMAN		12	2115	-		Lung NSC(201;0.0117)	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	1	1	hg19	c.1472C>T	CCDS54612.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539408	0.85917	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85484	-1.99;-1.99	5.68	5.68	0.88126	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101196	0.64402	D	0.000002	D	0.94879	0.8345	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67382	0.811;0.951	D	0.95854	0.8877	10	0.87932	D	0	-12.9944	19.7771	0.96399	0.0:0.0:1.0:0.0	.	450;491	E9PGM4;Q04446	.;GLGB_HUMAN	V	491;542;450;254	ENSP00000410833:A491V;ENSP00000419638:A450V	ENSP00000264326:A542V	A	-	2	0	0	GBE1	81709912	81709912	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.455000	0.97625	2.676000	0.91093	0.585000	0.79938	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				15	15		56	54	1		1	1		0	0	20	0		9.999160e-01	9.999991e-01	0	20	0	95	0	15	56
GBE1	2632	broad.mit.edu	37	3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	165					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)			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)		CCTTCACGAACCACATACTTT	0.338									Glycogen Storage Disease, type IV																													ENST00000429644.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				18						c.(493-495)Gtt>Att		glucan (1,4-alpha-), branching enzyme 1							99.0	97.0	97.0					3																	81699009		1873	4116	5989	SO:0001583	missense	2632	0	0		Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	g.chr3:81699009C>T		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.493G>A	chr3.hg19:g.81699009C>T	ENSP00000410833:p.Val165Ile	0					GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	p.V165I	NM_000158.3	NP_000149	1	2	3	1.998468	Q04446	GLGB_HUMAN		4	1136	-		Lung NSC(201;0.0117)	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	1	1	hg19	c.493G>A	CCDS54612.1	1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056943	0.36277	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.19250	2.16;2.16	5.83	-2.4	0.06583	5.83	-2.4	0.06583	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.140370	0.06154	N	0.674717	T	0.16811	0.0404	L	0.31157	0.91	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38415	-0.9662	10	0.52906	T	0.07	-0.2979	12.0024	0.53240	0.0:0.4188:0.0:0.5812	.	124;165	E9PGM4;Q04446	.;GLGB_HUMAN	I	165;216;124	ENSP00000410833:V165I;ENSP00000419638:V124I	ENSP00000264326:V216I	V	-	1	0	0	GBE1	81781699	81781699	0.028000	0.19301	0.800000	0.32199	0.881000	0.50899	-0.013000	0.12678	-0.503000	0.06586	0.650000	0.86243	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				32	31		153	150	1		1	1		0	0	40	0		1	9.999987e-01	0	20	0	88	0	32	153
GBE1	2632	broad.mit.edu	37	3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	30					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)			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)		TCCAGGAGTCTGGCCAGTTCG	0.677									Glycogen Storage Disease, type IV																													ENST00000429644.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(88-90)Aga>Gga		glucan (1,4-alpha-), branching enzyme 1							40.0	49.0	46.0					3																	81810581		2032	4166	6198	SO:0001583	missense	2632	0	0		Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	g.chr3:81810581T>C		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.88A>G	chr3.hg19:g.81810581T>C	ENSP00000410833:p.Arg30Gly	0					RP11-142L1.1_ENST00000497946.1_lincRNA	p.R30G	NM_000158.3	NP_000149	1	2	3	1.998468	Q04446	GLGB_HUMAN		1	731	-		Lung NSC(201;0.0117)	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	1	1	hg19	c.88A>G	CCDS54612.1	1	.	.	.	.	.	.	.	.	.	.	T	7.770	0.707351	0.15239	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.16897	2.31	3.75	1.78	0.24846	3.75	1.78	0.24846	.	0.582540	0.16218	U	0.224159	T	0.06917	0.0176	N	0.11064	0.09	0.21445	N	0.999682	B	0.11235	0.004	B	0.15484	0.013	T	0.41680	-0.9495	10	0.02654	T	1	-7.4281	8.5349	0.33357	0.0:0.0:0.5115:0.4885	.	30	Q04446	GLGB_HUMAN	G	30;81	ENSP00000410833:R30G	ENSP00000264326:R81G	R	-	1	2	2	GBE1	81893271	81893271	0.004000	0.15560	0.010000	0.14722	0.719000	0.41307	0.293000	0.19029	0.284000	0.22305	0.379000	0.24179	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				60	60		270	265	1		1	1		0	0	49	0		1	9.999818e-01	0	7	0	68	0	60	270
GBE1	2632	broad.mit.edu	37	3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	23					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)			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)		GGGCACGTCAGCCAGGGCGGC	0.682									Glycogen Storage Disease, type IV																													ENST00000429644.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(67-69)gCt>gTt		glucan (1,4-alpha-), branching enzyme 1							34.0	41.0	39.0					3																	81810601		2014	4163	6177	SO:0001583	missense	2632	0	0		Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	g.chr3:81810601G>A		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.68C>T	chr3.hg19:g.81810601G>A	ENSP00000410833:p.Ala23Val	0					RP11-142L1.1_ENST00000497946.1_lincRNA	p.A23V	NM_000158.3	NP_000149	1	2	3	1.998468	Q04446	GLGB_HUMAN		1	711	-		Lung NSC(201;0.0117)	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	1	1	hg19	c.68C>T	CCDS54612.1	1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278638	0.23307	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.17370	2.28	3.42	3.42	0.39159	3.42	3.42	0.39159	.	0.197648	0.34002	U	0.004349	T	0.13457	0.0326	L	0.40543	1.245	0.43919	D	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.27785	T	0.31	-2.5332	10.5247	0.44941	0.0:0.0:1.0:0.0	.	23	Q04446	GLGB_HUMAN	V	23;74	ENSP00000410833:A23V	ENSP00000264326:A74V	A	-	2	0	0	GBE1	81893291	81893291	0.069000	0.21087	0.179000	0.23059	0.093000	0.18481	1.010000	0.29898	1.906000	0.55180	0.462000	0.41574	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				52	53		219	215	0		1	1		0	0	36	0		1	9.999405e-01	0	10	0	54	0	52	219
CADM2	253559	broad.mit.edu	37	3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A	rs201652066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000407528.2	+	5	684	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CADM2_ENST00000405615.2_Missense_Mutation_p.E210K|CADM2_ENST00000383699.3_Missense_Mutation_p.E217K	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	208	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	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)				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)		AGTAGATCACGAATCCCTCAA	0.502																																						ENST00000407528.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(622-624)Gaa>Aaa		cell adhesion molecule 2							107.0	86.0	93.0					3																	85961642		2203	4300	6503	SO:0001583	missense	253559	1	121412	27				g.chr3:85961642G>A	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.622G>A	chr3.hg19:g.85961642G>A	ENSP00000384575:p.Glu208Lys	0					CADM2_ENST00000405615.2_Missense_Mutation_p.E210K|CADM2_ENST00000383699.3_Missense_Mutation_p.E217K	p.E208K	NM_001167674.1	NP_001161146.1	1	2	3	1.998468	Q8N3J6	CADM2_HUMAN		5	684	+		Lung NSC(201;0.0148)	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	1	1	hg19	c.622G>A	CCDS54614.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.156200	0.94686	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76709	-1.04;-1.04;-1.04	5.5	5.5	0.81552	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048239	0.85682	D	0.000000	T	0.77718	0.4172	L	0.27053	0.805	0.58432	D	0.999991	P;D;D	0.64830	0.882;0.979;0.994	B;P;P	0.56163	0.091;0.558;0.793	T	0.73142	-0.4076	10	0.18710	T	0.47	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	210;217;208	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	217;208;210	ENSP00000373200:E217K;ENSP00000384575:E208K;ENSP00000384193:E210K	ENSP00000373200:E217K	E	+	1	0	0	CADM2	86044332	86044332	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-19.999990	1	0.170000	NM_153184			46	44		220	216	1		1	0		0	0	53	0		1	0	0	0	0	1	0	46	220
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000407528.2	+	7	845	c.783G>A	c.(781-783)tgG>tgA	p.W261*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*|CADM2_ENST00000383699.3_Nonsense_Mutation_p.W270*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				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)				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)		CTGTTTTGTGGACAAAGGATG	0.348																																						ENST00000407528.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(781-783)tgG>tgA		cell adhesion molecule 2							144.0	141.0	142.0					3																	86010637		2203	4300	6503	SO:0001587	stop_gained	253559	0	0					g.chr3:86010637G>A	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.783G>A	chr3.hg19:g.86010637G>A	ENSP00000384575:p.Trp261*	0					CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*|CADM2_ENST00000383699.3_Nonsense_Mutation_p.W270*	p.W261*	NM_001167674.1	NP_001161146.1	1	2	3	1.998468	Q8N3J6	CADM2_HUMAN		7	845	+		Lung NSC(201;0.0148)	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	0	1	hg19	c.783G>A	CCDS54614.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.101767	0.97286	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	270;261;263	.	ENSP00000373200:W270X	W	+	3	0	0	CADM2	86093327	86093327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_153184			119	117		540	536	1		1	0		0	0	135	0		1	0	0	0	0	1	0	119	540
VGLL3	389136	broad.mit.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612																																						ENST00000398399.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R228W(1)	breast(1)	19						c.(682-684)Cgg>Tgg		vestigial-like family member 3							92.0	93.0	93.0					3																	87017995		2180	4284	6464	SO:0001583	missense	389136	0	0					g.chr3:87017995G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.682C>T	chr3.hg19:g.87017995G>A	ENSP00000381436:p.Arg228Trp	0					VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	p.R228W	NM_016206.2	NP_057290.2	1	2	3	1.998468				3	1045	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		Missense_Mutation	SNP	ENST00000398399.2	1	1	hg19	c.682C>T	CCDS43110.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	0|2	VGLL3|VGLL3	87100685|87100685	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.958430	1	0.170000	NM_016206			70	66		337	326	1		1	0		0	0	87	0		1	7.880391e-01	0	0	0	16	0	70	337
VGLL3	389136	broad.mit.edu	37	3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507																																						ENST00000398399.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(397-399)tgG>tgA		vestigial-like family member 3							105.0	100.0	102.0					3																	87027680		1884	4118	6002	SO:0001587	stop_gained	389136	0	0					g.chr3:87027680C>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.399G>A	chr3.hg19:g.87027680C>T	ENSP00000381436:p.Trp133*	0					VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	p.W133*	NM_016206.2	NP_057290.2	1	2	3	1.998468				2	762	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		Nonsense_Mutation	SNP	ENST00000398399.2	0	1	hg19	c.399G>A	CCDS43110.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252520|4.252520	0.80135|0.80135	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52306|.	0.1726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43393|.	-0.9394|.	3|.	.|0.07175	.|T	.|0.84	-3.2935|-3.2935	18.901|18.901	0.92443|0.92443	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	67|133	.|.	.|ENSP00000373199:W133X	A|W	-|-	1|3	0|0	0|0	VGLL3|VGLL3	87110370|87110370	87110370|87110370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.766000|5.766000	0.68843|0.68843	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	GCG|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_016206			74	72		432	417	1		1	0		0	0	112	0		1	5.894264e-01	0	0	0	13	0	74	432
CHMP2B	25978	broad.mit.edu	37	3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000263780.4	+	3	482	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	82					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)			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)		AAGTTCAAAAGTTACTTCTAT	0.368																																						ENST00000263780.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(244-246)Gtt>Ttt		charged multivesicular body protein 2B							86.0	90.0	89.0					3																	87294981		2203	4300	6503	SO:0001583	missense	25978	0	0					g.chr3:87294981G>T	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.244G>T	chr3.hg19:g.87294981G>T	ENSP00000263780:p.Val82Phe	0					CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F	p.V82F	NM_014043.3	NP_054762.2	1	2	3	1.998468	Q9UQN3	CHM2B_HUMAN		3	482	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	1	1	hg19	c.244G>T	CCDS2918.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906911	0.92107	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.73363	-0.74;-0.74	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.984;0.984	P;D	0.63877	0.903;0.919	D	0.86798	0.1990	10	0.72032	D	0.01	-5.8634	18.3121	0.90204	0.0:0.0:1.0:0.0	.	41;82	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	F	41;82	ENSP00000419998:V41F;ENSP00000263780:V82F	ENSP00000263780:V82F	V	+	1	0	0	CHMP2B	87377671	87377671	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.471000	0.97696	2.297000	0.77311	0.655000	0.94253	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_014043			48	46		211	205	1		1	1		0	0	70	0		1	1	0	115	0	274	0	48	211
HTR1F	3355	broad.mit.edu	37	3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	42					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)			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)	AACTATCAACTCCCTTGTGAT	0.453																																						ENST00000319595.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998868	0.990000	1.000000																										0				25						c.(124-126)Tcc>Ccc		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						163.0	154.0	157.0					3																	88040023		2203	4300	6503	SO:0001583	missense	3355	0	0					g.chr3:88040023T>C	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.124T>C	chr3.hg19:g.88040023T>C	ENSP00000322924:p.Ser42Pro	0						p.S42P	NM_000866.3	NP_000857.1	1	2	3	1.998468	P30939	5HT1F_HUMAN		1	178	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)		Missense_Mutation	SNP	ENST00000319595.4	1	1	hg19	c.124T>C	CCDS2920.1	1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517643	0.64634	.	.	ENSG00000179097	ENST00000319595	T	0.39056	1.1	5.5	5.5	0.81552	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.053859	0.85682	D	0.000000	T	0.55832	0.1945	M	0.80982	2.52	0.39807	D	0.972652	D	0.54397	0.966	P	0.50231	0.635	T	0.65401	-0.6177	10	0.66056	D	0.02	.	13.5477	0.61713	0.0:0.0:0.0:1.0	.	42	P30939	5HT1F_HUMAN	P	42	ENSP00000322924:S42P	ENSP00000322924:S42P	S	+	1	0	0	HTR1F	88122713	88122713	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.145000	0.71769	2.100000	0.63781	0.477000	0.44152	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	1	0	1		2	2	2	0		0	0	135		135	132	1	2.060000	-19.999880	1	0.170000	NM_000866			78	78		668	660	1		1	0		0	0	135	0		1	0	0	0	0	1	0	78	668
HTR1F	3355	broad.mit.edu	37	3	88040770	88040770	+	Missense_Mutation	SNP	G	G	T	rs201702555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040770G>T	ENST00000319595.4	+	1	925	c.871G>T	c.(871-873)Gca>Tca	p.A291S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	291					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)			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)	AGAACGGAAAGCAGCCACTAC	0.368																																						ENST00000319595.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				25						c.(871-873)Gca>Tca		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						67.0	77.0	74.0					3																	88040770		2203	4300	6503	SO:0001583	missense	3355	0	0					g.chr3:88040770G>T	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.871G>T	chr3.hg19:g.88040770G>T	ENSP00000322924:p.Ala291Ser	0						p.A291S	NM_000866.3	NP_000857.1	1	2	3	1.998468	P30939	5HT1F_HUMAN		1	925	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)		Missense_Mutation	SNP	ENST00000319595.4	1	0	hg19	c.871G>T	CCDS2920.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298939	0.81025	.	.	ENSG00000179097	ENST00000319595	T	0.39787	1.06	5.46	5.46	0.80206	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	H	0.94345	3.525	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.82034	-0.0657	10	0.72032	D	0.01	.	16.7988	0.85609	0.0:0.0:1.0:0.0	.	291	P30939	5HT1F_HUMAN	S	291	ENSP00000322924:A291S	ENSP00000322924:A291S	A	+	1	0	0	HTR1F	88123460	88123460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.577000	0.86979	0.557000	0.71058	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-0.851395	0	0.170000	NM_000866			35	34		197	194	1		1	0		0	0	47	0		1	0	0	0	0	1	0	35	197
ZNF654	55279	broad.mit.edu	37	3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	67					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)|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)		CAGGAAGTCACTGCTTTGGAA	0.373																																						ENST00000309495.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(199-201)aCt>aTt		zinc finger protein 654							85.0	85.0	85.0					3																	88188660		1881	4108	5989	SO:0001583	missense	55279	0	0					g.chr3:88188660C>T	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.200C>T	chr3.hg19:g.88188660C>T	ENSP00000312141:p.Thr67Ile	0					CGGBP1_ENST00000462901.1_Intron	p.T67I	NM_018293.2	NP_060763.2	1	2	3	1.998468	Q8IZM8	ZN654_HUMAN		1	407	+		Lung NSC(201;0.0283)	Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	1	1	hg19	c.200C>T	CCDS46874.1	1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173623	0.01646	.	.	ENSG00000175105	ENST00000309495	T	0.10192	2.9	5.43	3.61	0.41365	5.43	3.61	0.41365	.	0.482456	0.19907	N	0.103373	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.35671	T	0.21	.	10.8603	0.46823	0.0:0.8662:0.0:0.1338	.	67	Q8IZM8	ZN654_HUMAN	I	67	ENSP00000312141:T67I	ENSP00000312141:T67I	T	+	2	0	0	ZNF654	88271350	88271350	0.002000	0.14202	0.404000	0.26397	0.406000	0.30931	1.473000	0.35387	0.655000	0.30866	0.549000	0.68633	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_018293			53	53		206	203	1		1	1		0	0	45	0		1	9.769669e-01	0	4	0	22	0	53	206
C3orf38	285237	broad.mit.edu	37	3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A	rs373620957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000318887.3	+	3	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	201					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423																																						ENST00000318887.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(601-603)cGt>cAt		chromosome 3 open reading frame 38		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	118.0	120.0		602	5.5	1.0	3		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf38	NM_173824.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	201/330	88205397	2,13004	2203	4300	6503	SO:0001583	missense	285237	6	121412	42				g.chr3:88205397G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.602G>A	chr3.hg19:g.88205397G>A	ENSP00000322469:p.Arg201His	0					C3orf38_ENST00000486971.1_3'UTR	p.R201H	NM_173824.3	NP_776185.2	1	2	3	1.998468	Q5JPI3	CC038_HUMAN		3	912	+		Lung NSC(201;0.17)	B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	1	1	hg19	c.602G>A	CCDS2921.2	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342840	0.61073	2.27E-4	1.16E-4	ENSG00000179021	ENST00000318887	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.55743	1.74	0.80722	D	1	B	0.34349	0.45	B	0.28465	0.09	T	0.63712	-0.6575	9	0.87932	D	0	-15.7301	18.7992	0.92008	0.0:0.0:1.0:0.0	.	201	Q5JPI3	CC038_HUMAN	H	201	.	ENSP00000322469:R201H	R	+	2	0	0	C3orf38	88288087	88288087	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.873000	0.92357	2.751000	0.94390	0.557000	0.71058	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_173824			120	116		508	499	1		1	1		0	0	119	0		1	9.999983e-01	0	17	0	63	0	120	508
C3orf38	285237	broad.mit.edu	37	3	88205716	88205716	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000318887.3	+	3	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	307					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398																																						ENST00000318887.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993091	0.990000	1.000000																										0				12						c.(919-921)gtA>gtG		chromosome 3 open reading frame 38							70.0	74.0	73.0					3																	88205716		2203	4300	6503	SO:0001819	synonymous_variant	285237	0	0					g.chr3:88205716A>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.921A>G	chr3.hg19:g.88205716A>G		0					C3orf38_ENST00000486971.1_3'UTR	p.V307V	NM_173824.3	NP_776185.2	1	2	3	1.998468	Q5JPI3	CC038_HUMAN		3	1231	+		Lung NSC(201;0.17)	B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	1	1	hg19	c.921A>G	CCDS2921.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_173824			35	34		299	296	1		1	1		0	0	88	0		1	9.960511e-01	0	14	0	61	0	35	299
PROS1	5627	broad.mit.edu	37	3	93611924	93611924	+	Silent	SNP	G	G	A	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> D (in THPH5). {ECO:0000269|PubMed:15712227}.|G -> S (in THPH5). {ECO:0000269|PubMed:9241758}.|G -> V (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). {ECO:0000269|PubMed:11858485}.		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)			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)	ACAGTATCACGCCTTCTGAAT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.0					ENST00000394236.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1006-1008)ggC>ggT		protein S (alpha)	Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	G		1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	66.0		1008	-1.5	1.0	3	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	PROS1	NM_000313.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		336/677	93611924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5627	4	121410	34				g.chr3:93611924G>A		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.1008C>T	chr3.hg19:g.93611924G>A		0					PROS1_ENST00000407433.1_Silent_p.G205G	p.G336G	NM_000313.3	NP_000304.2	1	2	3	1.998468	P07225	PROS_HUMAN		10	1324	-			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	1	1	hg19	c.1008C>T	CCDS2923.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_000313			46	46		173	170	1		1	1		0	0	34	0		1	1	0	44	0	173	0	46	173
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; 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)			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)	CCTCACAACTCTTCTGATCTT	0.383																																						ENST00000394236.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(838-840)aaG>aaT		protein S (alpha)	Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						99.0	93.0	95.0					3																	93617301		2203	4300	6503	SO:0001583	missense	5627	0	0					g.chr3:93617301C>A		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.840G>T	chr3.hg19:g.93617301C>A	ENSP00000377783:p.Lys280Asn	0					PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	p.K280N	NM_000313.3	NP_000304.2	1	2	3	1.998468	P07225	PROS_HUMAN		8	1156	-			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	1	1	hg19	c.840G>T	CCDS2923.1	1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768117	0.15983	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	2	PROS1	95099991	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	1	0	1		2	2	2	0		0	0	68		68	69	1	2.060000	-3.194868	1	0.170000	NM_000313			59	58		253	251	1		1	1		0	0	68	0		1	1	0	46	0	183	0	59	253
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	ENST00000389672.5	+	3	687	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*|EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	123						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			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						GACTTGCAAAGAAACATTTAA	0.398																																						ENST00000389672.5	1.000000	0.650000	1	7.600000e-01	0.880000	0.879118	0.880000	1.000000																										0				101						c.(649-651)Gaa>Taa		EPH receptor A6							110.0	112.0	111.0					3																	96706372		1861	4085	5946	SO:0001587	stop_gained	285220	0	0					g.chr3:96706372G>T	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.649G>T	chr3.hg19:g.96706372G>T	ENSP00000374323:p.Glu217*	0					EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	p.E217*	NM_001080448.2	NP_001073917.2	1	2	3	1.998468	Q9UF33	EPHA6_HUMAN		3	687	+			D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	0	1	hg19	c.649G>T	CCDS46876.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798593|4.798593	0.90538|0.90538	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74435	.|-0.3666	.|4	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	217;217;123|161	.|.	ENSP00000374323:E217X|.	E|R	+|+	1|2	0|0	0|0	EPHA6|EPHA6	98189062|98189062	98189062|98189062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAA|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	0	0	0		2	2	2	0		0	0	123		123	123	1	2.060000	-10.397900	1	0.170000	NM_001080448			45	45		563	548	0		1	0		0	0	123	0		1	0	0	0	0	1	0	45	563
EPHA6	285220	broad.mit.edu	37	3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N|EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	149						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			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						TACAAAGATCGACACAATTGC	0.413																																						ENST00000389672.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(727-729)Gac>Aac		EPH receptor A6							180.0	183.0	182.0					3																	96706450		1878	4137	6015	SO:0001583	missense	285220	2	120844	39				g.chr3:96706450G>A	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.727G>A	chr3.hg19:g.96706450G>A	ENSP00000374323:p.Asp243Asn	0					EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	p.D243N	NM_001080448.2	NP_001073917.2	1	2	3	1.998468	Q9UF33	EPHA6_HUMAN		3	765	+			D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	1	1	hg19	c.727G>A	CCDS46876.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.988862|4.988862	0.93106|0.93106	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04917|.	3.53;3.53;3.53|.	5.74|5.74	5.74|5.74	0.90152|0.90152	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90369|0.90369	3.11|3.11	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	0.87367|0.87367	0.2348|0.2348	10|5	0.87932|.	D|.	0|.	.|.	18.9232|18.9232	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243|.	B3KS12;E7EU71|.	.;.|.	N|Q	243;243;149|187	ENSP00000420598:D243N;ENSP00000374323:D243N;ENSP00000439758:D149N|.	ENSP00000374323:D243N|.	D|R	+|+	1|2	0|0	0|0	EPHA6|EPHA6	98189140|98189140	98189140|98189140	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAC|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	1	0	0		2	2	2	0		0	0	222		222	218	1	2.060000	-20.000000	1	0.170000	NM_001080448			206	202		897	890	1		1	1		0	0	222	0		1	3.135991e-01	0	4	0	2	0	206	897
CRYBG3	131544	broad.mit.edu	37	3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2096							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428																																						ENST00000182096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(442-444)gAg>gCg		beta-gamma crystallin domain containing 3							89.0	87.0	88.0					3																	97596325		1921	4132	6053	SO:0001583	missense	131544	0	0					g.chr3:97596325A>C			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.443A>C	chr3.hg19:g.97596325A>C	ENSP00000182096:p.Glu148Ala	0						p.E148A	NM_153605.3	NP_705833.3	1	2	3	1.998468	Q68DQ2	CRBG3_HUMAN		1	507	+			B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	1	1	hg19	c.443A>C		1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201890	0.79127	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.093992	0.45606	D	0.000355	T	0.77438	0.4130	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51895	0.683	T	0.80346	-0.1421	10	0.87932	D	0	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	148	Q68DQ2	CRBG3_HUMAN	A	148	ENSP00000182096:E148A	ENSP00000182096:E148A	E	+	2	0	0	CRYBG3	99079015	99079015	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.660000	0.68018	2.266000	0.75297	0.528000	0.53228	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_153605			90	89		361	355	1		1	1		0	0	105	0		1	9.141223e-01	0	2	0	16	0	90	361
CRYBG3	131544	broad.mit.edu	37	3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2824							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413																																						ENST00000182096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2626-2628)tgG>tgA		beta-gamma crystallin domain containing 3							92.0	82.0	85.0					3																	97655719		1857	4108	5965	SO:0001587	stop_gained	131544	0	0					g.chr3:97655719G>A			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.2628G>A	chr3.hg19:g.97655719G>A	ENSP00000182096:p.Trp876*	0					CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	p.W876*	NM_153605.3	NP_705833.3	1	2	3	1.998468	Q68DQ2	CRBG3_HUMAN		16	2692	+			B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Nonsense_Mutation	SNP	ENST00000182096.4	0	1	hg19	c.2628G>A		1	.	.	.	.	.	.	.	.	.	.	G	39	7.439729	0.98286	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	1.814360	0.02012	N	0.047103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1055	0.93293	0.0:0.0:1.0:0.0	.	.	.	.	X	876;82;83	.	ENSP00000182096:W876X	W	+	3	0	0	CRYBG3	99138409	99138409	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.332000	0.72934	2.609000	0.88269	0.655000	0.94253	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	0	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_153605			59	59		267	262	1		1	1		0	0	71	0		1	9.982839e-01	0	2	0	44	0	59	267
GABRR3	200959	broad.mit.edu	37	3	97711701	97711701	+	RNA	SNP	C	C	A	rs200418880		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	ENST00000472788.1	-	0	1100					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTACCTTTCCTGTCTTCTTG	0.473																																						ENST00000472788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3								gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)	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)						225.0	219.0	221.0					3																	97711701		2001	4188	6189			200959	0	0					g.chr3:97711701C>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		chr3.hg19:g.97711701C>A		0							NM_001105580.2	NP_001099050.1	1	2	3	1.998468	A8MPY1	GBRR3_HUMAN		0	1100	-			Q9UIV9	RNA	SNP	ENST00000472788.1	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	0		2	2	2	0		0	0	201		201	201	1	2.060000	-20.000000	1	0.170000				150	149		687	674	0		1			0	0	201	0		1	0	0	0	0	0	0	150	687
GABRR3	200959	broad.mit.edu	37	3	97720488	97720488	+	RNA	SNP	C	C	T	rs375712400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	ENST00000472788.1	-	0	879					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AACAGCTCTTCGGTCAATCCA	0.403																																						ENST00000472788.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3								gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)	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)	C	GLN/ARG	0,3710		0,0,1855	90.0	83.0	85.0		878	0.5	0.9	3		85	2,8198		0,2,4098	no	missense	GABRR3	NM_001105580.2	43	0,2,5953	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	293/468	97720488	2,11908	1855	4100	5955			200959	12	120812	40				g.chr3:97720488C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		chr3.hg19:g.97720488C>T		0							NM_001105580.2	NP_001099050.1	1	2	3	1.998468	A8MPY1	GBRR3_HUMAN		0	879	-			Q9UIV9	RNA	SNP	ENST00000472788.1	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.527987	1	0.170000				45	45		160	160	0		1			0	0	48	0		1	0	0	0	0	0	0	45	160
GABRR3	200959	broad.mit.edu	37	3	97736563	97736563	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97736563G>T	ENST00000472788.1	-	0	243					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGGCACTGGAGACCCTTAAGA	0.353																																						ENST00000472788.1	1.000000	0.230000	1	4.100000e-01	0.680000	0.688584	0.680000	1.000000																										0				3								gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)	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)						68.0	61.0	63.0					3																	97736563		1832	4101	5933			200959	0	0					g.chr3:97736563G>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		chr3.hg19:g.97736563G>T		0							NM_001105580.2	NP_001099050.1	1	2	3	1.998468	A8MPY1	GBRR3_HUMAN		0	243	-			Q9UIV9	RNA	SNP	ENST00000472788.1	0	1	hg19			0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-7.920937	1	0.170000				4	4		73	73	0		1			0	0	18	0		8.922071e-01	0	0	0	0	0	0	4	73
OR5AC2	81050	broad.mit.edu	37	3	97806194	97806194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97806194C>T	ENST00000358642.2	+	1	178	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	60					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.P60F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTCATATGCCCATGTACTT	0.433																																						ENST00000358642.2	1.000000	0.240000	4.400000e-01	2.900000e-01	0.350000	0.397201	0.350000	0.350000																										1	Substitution - Missense(1)	p.P60F(1)	skin(1)	28						c.(178-180)Ccc>Tcc		olfactory receptor, family 5, subfamily AC, member 2							297.0	278.0	285.0					3																	97806194		2203	4300	6503	SO:0001583	missense	81050	0	0					g.chr3:97806194C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.178C>T	chr3.hg19:g.97806194C>T	ENSP00000351466:p.Pro60Ser	0						p.P60S	NM_054106.1	NP_473447.1	1	2	3	1.998468	Q9NZP5	O5AC2_HUMAN		1	178	+				Missense_Mutation	SNP	ENST00000358642.2	1	1	hg19	c.178C>T	CCDS33796.1	0	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694621	0.68386	.	.	ENSG00000196578	ENST00000358642	T	0.02015	4.5	5.2	5.2	0.72013	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.18593	0.0446	M	0.92412	3.305	0.41357	D	0.987405	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.72032	D	0.01	-33.5828	16.4072	0.83684	0.0:1.0:0.0:0.0	.	60	Q9NZP5	O5AC2_HUMAN	S	60	ENSP00000351466:P60S	ENSP00000351466:P60S	P	+	1	0	0	OR5AC2	99288884	99288884	1.000000	0.71417	0.946000	0.38457	0.237000	0.25408	5.592000	0.67543	2.470000	0.83445	0.596000	0.82720	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1	0	0	1		19	2	2	1		1	1	201		201	197	1	2.060000	-2.616543	1	0.170000				33	33		1073	1051	0		1			1	0	201	0		9.791704e-01	0	0	0	0	0	0	33	1073
OR5H1	26341	broad.mit.edu	37	3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393																																						ENST00000354565.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(415-417)gGa>gTa		olfactory receptor, family 5, subfamily H, member 1							70.0	78.0	75.0					3																	97851957		2183	4267	6450	SO:0001583	missense	26341	0	0					g.chr3:97851957G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.416G>T	chr3.hg19:g.97851957G>T	ENSP00000346575:p.Gly139Val	0					RP11-343D2.11_ENST00000508964.1_RNA	p.G139V	NM_001005338.1	NP_001005338.1	1	2	3	1.998468	A6NKK0	OR5H1_HUMAN		1	416	+				Missense_Mutation	SNP	ENST00000354565.2	1	1	hg19	c.416G>T	CCDS33797.1	1	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733512	0.03111	.	.	ENSG00000231192	ENST00000354565	T	0.37235	1.21	3.57	1.72	0.24424	3.57	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.262517	0.26911	N	0.021867	T	0.24044	0.0582	L	0.33668	1.02	0.09310	N	1	B	0.23806	0.091	B	0.25759	0.063	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.4464	0.16537	0.3814:0.0:0.6186:0.0	.	139	A6NKK0	OR5H1_HUMAN	V	139	ENSP00000346575:G139V	ENSP00000346575:G139V	G	+	2	0	0	OR5H1	99334647	99334647	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.955000	0.03869	0.197000	0.20387	0.195000	0.17529	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	1	0	0		2	2	2	0		0	0	130		130	163	1	2.060000	-20.000000	1	0.170000	NM_001005338			94	77		541	499	0		1			0	0	130	0		1	0	0	0	0	0	0	94	541
OR5H14	403273	broad.mit.edu	37	3	97868310	97868310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	ENST00000437310.1	+	1	141	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATACCCCTGTTCCTGGCAT	0.423																																						ENST00000437310.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995595	0.990000	1.000000																										0				31						c.(79-81)ctG>ctA		olfactory receptor, family 5, subfamily H, member 14							82.0	86.0	85.0					3																	97868310		2202	4279	6481	SO:0001819	synonymous_variant	403273	1	121404	32				g.chr3:97868310G>A		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.81G>A	chr3.hg19:g.97868310G>A		0					RP11-343D2.11_ENST00000508964.1_RNA	p.L27L	NM_001005514.1	NP_001005514.1	1	2	3	1.998468	A6NHG9	O5H14_HUMAN		1	141	+			B9EH15	Silent	SNP	ENST00000437310.1	0	1	hg19	c.81G>A	CCDS33798.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1	1	0	1		2	2	2	0		0	0	222		222	330	1	2.060000	-20.000000	1	0.170000				102	67		967	618	0		1			0	0	222	0		1	0	0	0	0	0	0	102	967
OR5H6	79295	broad.mit.edu	37	3	97983282	97983282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	ENST00000383696.2	+	1	195	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	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)	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGTAATATATCTCATCACCAT	0.403																																						ENST00000383696.2	1.000000	0.910000	1	9.900000e-01	0.990000	0.992454	0.990000	1.000000																										0				34						c.(154-156)Ctc>Atc		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							217.0	225.0	222.0					3																	97983282		2203	4299	6502	SO:0001583	missense	79295	0	0					g.chr3:97983282C>A	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.154C>A	chr3.hg19:g.97983282C>A	ENSP00000373196:p.Leu52Ile	0					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L52I	NM_001005479.1	NP_001005479.1	1	2	3	1.998468	Q8NGV6	OR5H6_HUMAN		1	195	+			Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	1	1	hg19	c.154C>A	CCDS33800.1	1	.	.	.	.	.	.	.	.	.	.	-	8.244	0.807484	0.16467	.	.	ENSG00000230301	ENST00000383696	T	0.05199	3.48	2.19	1.28	0.21552	2.19	1.28	0.21552	.	0.620544	0.13384	N	0.391886	T	0.07548	0.0190	L	0.54908	1.71	0.09310	N	1	B	0.27679	0.185	B	0.31191	0.125	T	0.30679	-0.9970	10	0.42905	T	0.14	.	6.7748	0.23615	0.0:0.8398:0.0:0.1602	.	52	Q8NGV6	OR5H6_HUMAN	I	52	ENSP00000373196:L52I	ENSP00000373196:L52I	L	+	1	0	0	OR5H6	99465972	99465972	0.000000	0.05858	0.010000	0.14722	0.086000	0.17979	-1.962000	0.01514	0.251000	0.21505	0.194000	0.17425	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2	0	0	1		18	2	2	1		1	1	303		303	303	1	2.060000	-20.000000	1	0.170000				143	135		1431	1388	0		1			1	0	303	0		1	0	0	0	0	0	0	143	1431
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	rs372270718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.001					ENST00000332650.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(160-162)cGg>cAg		olfactory receptor, family 5, subfamily K, member 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270.0	267.0	268.0		161	-8.0	0.0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense	26339	23	121410	49				g.chr3:98188581G>A	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.161G>A	chr3.hg19:g.98188581G>A	ENSP00000373193:p.Arg54Gln	0						p.R54Q	NM_001004736.2	NP_001004736.2	1	2	3	1.998468	Q8NHB7	OR5K1_HUMAN		1	258	+			B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	1	1	hg19	c.161G>A	CCDS43115.1	1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	0	OR5K1	99671271	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1	1	0	1		2	2	2	0		0	0	275		275	276	1	2.060000	-20.000000	1	0.170000				266	262		1101	1070	1		1			0	0	275	0		1	0	0	0	0	0	0	266	1101
CLDND1	56650	broad.mit.edu	37	3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000503004.1	-	5	1631	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	251						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398																																						ENST00000503004.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(751-753)cGt>cAt		claudin domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85.0	74.0	78.0		752,821,752,752,467,752	5.2	0.8	3	dbSNP_134	78	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	29,29,29,29,29,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/254,274/277,251/254,251/254,156/159,251/254	98235513	6,13000	2203	4300	6503	SO:0001583	missense	56650	18	121412	44				g.chr3:98235513C>T	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.752G>A	chr3.hg19:g.98235513C>T	ENSP00000421226:p.Arg251His	0					CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000502288.1_Intron	p.R251H			1	2	3	1.998468	Q9NY35	CLDN1_HUMAN		5	1631	-			B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	1	1	hg19	c.752G>A	CCDS2930.1	1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604808	0.28623	0.0	6.98E-4	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287	T;T;T;T;T;T;T;T;T	0.38077	1.52;1.46;1.52;1.52;1.52;1.52;1.52;1.16;1.52	6.03	5.16	0.70880	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.58268	0.982;0.982	P;P	0.44921	0.459;0.464	T	0.08597	-1.0714	10	0.52906	T	0.07	-14.3194	13.1986	0.59754	0.0:0.9234:0.0:0.0766	.	156;251	F2Z2D9;Q9NY35	.;CLDN1_HUMAN	H	251;274;251;251;251;251;251;156;251	ENSP00000340247:R251H;ENSP00000388457:R274H;ENSP00000377734:R251H;ENSP00000421226:R251H;ENSP00000377739:R251H;ENSP00000377735:R251H;ENSP00000423590:R251H;ENSP00000424669:R156H;ENSP00000426869:R251H	ENSP00000340247:R251H	R	-	2	0	0	CLDND1	99718203	99718203	1.000000	0.71417	0.760000	0.31359	0.019000	0.09904	5.644000	0.67902	1.561000	0.49584	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.697654	1	0.170000	NM_019895			40	40		183	176	1		1	1		0	0	65	0		1	1	0	26	0	157	0	40	183
CPOX	1371	broad.mit.edu	37	3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	314					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTTTTTAAATTTGGGGTAGAG	0.403																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2	1.000000	0.240000	5.900000e-01	3.300000e-01	0.440000	0.477676	0.440000	0.410000																										0				16						c.(940-942)aAa>aCa		coproporphyrinogen oxidase							99.0	101.0	100.0					3																	98307569		2203	4300	6503	SO:0001583	missense	1371	0	0					g.chr3:98307569T>G	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.941A>C	chr3.hg19:g.98307569T>G	ENSP00000264193:p.Lys314Thr	0						p.K314T	NM_000097.5	NP_000088.3	1	2	3	1.998468	P36551	HEM6_HUMAN		4	1159	-			A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	1	1	hg19	c.941A>C	CCDS2932.1	0	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121857	0.56613	.	.	ENSG00000080819	ENST00000264193	D	0.93953	-3.32	5.74	4.59	0.56863	5.74	4.59	0.56863	.	0.090735	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58354	1.805	0.47737	D	0.999503	P	0.36874	0.572	B	0.42361	0.385	D	0.90848	0.4729	10	0.59425	D	0.04	-16.4938	10.0387	0.42144	0.0:0.0795:0.0:0.9205	.	314	P36551	HEM6_HUMAN	T	314	ENSP00000264193:K314T	ENSP00000264193:K314T	K	-	2	0	0	CPOX	99790259	99790259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.919000	0.56439	1.121000	0.41925	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	0	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-13.544520	1	0.170000	NM_000097			13	13		351	346	0		1	1		0	0	85	0		9.995030e-01	8.545000e-01	0	3	0	92	0	13	351
DCBLD2	131566	broad.mit.edu	37	3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	753					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507																																						ENST00000326840.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2257-2259)Cca>Tca		discoidin, CUB and LCCL domain containing 2							216.0	214.0	215.0					3																	98518287		1954	4160	6114	SO:0001583	missense	131566	0	0					g.chr3:98518287G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2257C>T	chr3.hg19:g.98518287G>A	ENSP00000321573:p.Pro753Ser	0					DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	p.P753S	NM_080927.3	NP_563615.3	1	2	3	1.998468	Q96PD2	DCBD2_HUMAN		16	2619	-			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	1	1	hg19	c.2257C>T	CCDS46878.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103204	0.76983	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.30182	1.54;1.54	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.57142	-0.7862	10	0.51188	T	0.08	-16.0329	18.0345	0.89296	0.0:0.0:1.0:0.0	.	767;753	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	753;767	ENSP00000321573:P753S;ENSP00000321646:P767S	ENSP00000321573:P753S	P	-	1	0	0	DCBLD2	100000977	100000977	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.608000	0.90895	2.865000	0.98341	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	0		2	2	2	0		0	0	231		231	228	1	2.060000	-20.000000	1	0.170000	NM_080927			201	198		885	869	1		1	1		0	0	231	0		1	1	0	7	0	140	0	201	885
DCBLD2	131566	broad.mit.edu	37	3	98518306	98518306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	746					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502																																						ENST00000326840.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D746D(1)	endometrium(1)	25						c.(2236-2238)gaC>gaT		discoidin, CUB and LCCL domain containing 2							203.0	203.0	203.0					3																	98518306		1957	4150	6107	SO:0001819	synonymous_variant	131566	1	120894	39				g.chr3:98518306G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2238C>T	chr3.hg19:g.98518306G>A		0					DCBLD2_ENST00000326857.9_Silent_p.D760D	p.D746D	NM_080927.3	NP_563615.3	1	2	3	1.998468	Q96PD2	DCBD2_HUMAN		16	2600	-			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	1	1	hg19	c.2238C>T	CCDS46878.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	0		17	5	2	1		1	1	232		232	227	1	2.060000	-20.000000	1	0.170000	NM_080927			191	191		884	868	1		1	1		1	0	232	0		1	1	0	7	0	146	0	191	884
DCBLD2	131566	broad.mit.edu	37	3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	264	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393																																						ENST00000326840.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				25						c.(790-792)taT>taG		discoidin, CUB and LCCL domain containing 2							66.0	59.0	61.0					3																	98541110		1893	4123	6016	SO:0001587	stop_gained	131566	0	0					g.chr3:98541110A>C		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.792T>G	chr3.hg19:g.98541110A>C	ENSP00000321573:p.Tyr264*	0					DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*|DCBLD2_ENST00000469648.1_5'Flank	p.Y264*	NM_080927.3	NP_563615.3	1	2	3	1.998468	Q96PD2	DCBD2_HUMAN		6	1154	-			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Nonsense_Mutation	SNP	ENST00000326840.6	0	1	hg19	c.792T>G	CCDS46878.1	1	.	.	.	.	.	.	.	.	.	.	A	37	6.508712	0.97624	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.83	4.01	0.46588	5.83	4.01	0.46588	.	0.252743	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9355	7.1549	0.25632	0.2823:0.0:0.7177:0.0	.	.	.	.	X	264;218;264	.	ENSP00000321573:Y264X	Y	-	3	2	2	DCBLD2	100023800	100023800	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.362000	0.44169	0.764000	0.33197	-0.472000	0.04984	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-18.902120	1	0.170000	NM_080927			30	30		130	130	1		1	1		0	0	31	0		1	9.999988e-01	0	5	0	96	0	30	130
DCBLD2	131566	broad.mit.edu	37	3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	179	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353																																						ENST00000326840.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(535-537)gGa>gTa		discoidin, CUB and LCCL domain containing 2							126.0	120.0	122.0					3																	98568340		1866	4097	5963	SO:0001583	missense	131566	0	0					g.chr3:98568340C>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.536G>T	chr3.hg19:g.98568340C>A	ENSP00000321573:p.Gly179Val	0					DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	p.G179V	NM_080927.3	NP_563615.3	1	2	3	1.998468	Q96PD2	DCBD2_HUMAN		3	898	-			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	1	1	hg19	c.536G>T	CCDS46878.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386978	0.82902	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	5.62	5.62	0.85841	CUB (5);	0.102412	0.64402	D	0.000002	T	0.78104	0.4231	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87734	0.2581	10	0.87932	D	0	-19.3988	17.1542	0.86785	0.0:1.0:0.0:0.0	.	179;179	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	179;133;179;73	ENSP00000321573:G179V;ENSP00000321646:G179V;ENSP00000396803:G73V	ENSP00000321573:G179V	G	-	2	0	0	DCBLD2	100051030	100051030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.648000	0.89879	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_080927			56	55		261	255	1		1	1		0	0	82	0		1	9.999583e-01	0	2	0	70	0	56	261
COL8A1	1295	broad.mit.edu	37	3	99514881	99514881	+	Silent	SNP	C	C	T	rs567228826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537																																						ENST00000261037.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2134-2136)gaC>gaT		collagen, type VIII, alpha 1							40.0	39.0	39.0					3																	99514881		2203	4300	6503	SO:0001819	synonymous_variant	1295	0	0					g.chr3:99514881C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2136C>T	chr3.hg19:g.99514881C>T		0					COL8A1_ENST00000273342.4_Silent_p.D712D	p.D712D	NM_001850.4	NP_001841.2	1	2	3	1.998468	P27658	CO8A1_HUMAN		5	2516	+			D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	1	1	hg19	c.2136C>T	CCDS2934.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_001850			51	51		221	219	1		1	0		0	0	58	0		1	1	0	0	0	336	0	51	221
FILIP1L	11259	broad.mit.edu	37	3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000354552.3	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1073T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1073						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGCTACAGCTTGCATGTAA	0.448																																						ENST00000354552.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(3217-3219)Gct>Act		filamin A interacting protein 1-like							238.0	241.0	240.0					3																	99567303		2097	4233	6330	SO:0001583	missense	11259	1	121118	35				g.chr3:99567303C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3217G>A	chr3.hg19:g.99567303C>T	ENSP00000346560:p.Ala1073Thr	0					CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1073T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	p.A1073T	NM_182909.2	NP_878913.2	1	2	3	1.998468	Q4L180	FIL1L_HUMAN		5	3687	-			B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	1	1	hg19	c.3217G>A	CCDS43117.1	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524408	0.27299	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24538	2.24;1.92;1.92;2.24;1.92;1.85	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000079	T	0.16171	0.0389	N	0.22421	0.69	0.39866	D	0.973442	B;B	0.31193	0.312;0.208	B;B	0.29524	0.103;0.048	T	0.10965	-1.0607	10	0.11485	T	0.65	-11.442	12.7881	0.57518	0.0:0.9256:0.0:0.0744	.	1073;1073	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	52;1073;649;833;1073;833;819;833	ENSP00000346560:A1073T;ENSP00000417774:A649T;ENSP00000419642:A833T;ENSP00000327880:A1073T;ENSP00000373192:A833T;ENSP00000419874:A833T	ENSP00000327880:A1073T	A	-	1	0	0	FILIP1L	101049993	101049993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.826000	0.97356	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	1	0	1		2	2	2	0		0	0	173		173	173	1	2.060000	-20.000000	1	0.170000	NM_014890			167	161		764	749	1		1	0		0	0	173	0		1	1	0	1	0	185	0	167	764
FILIP1L	11259	broad.mit.edu	37	3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000354552.3	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T907I|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	907						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGGTCTGGAGTAACCTTTAT	0.463																																						ENST00000354552.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2719-2721)aCt>aTt		filamin A interacting protein 1-like							228.0	225.0	226.0					3																	99567800		2033	4185	6218	SO:0001583	missense	11259	0	0					g.chr3:99567800G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2720C>T	chr3.hg19:g.99567800G>A	ENSP00000346560:p.Thr907Ile	0					CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T907I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	p.T907I	NM_182909.2	NP_878913.2	1	2	3	1.998468	Q4L180	FIL1L_HUMAN		5	3190	-			B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	1	1	hg19	c.2720C>T	CCDS43117.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716834	0.48622	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.86;1.02;1.53;1.86;1.53;1.57	6.11	5.24	0.73138	6.11	5.24	0.73138	.	0.000000	0.53938	D	0.000050	T	0.62502	0.2433	M	0.62723	1.935	0.43824	D	0.996392	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.66143	-0.5997	10	0.72032	D	0.01	-14.1944	15.423	0.75028	0.0661:0.0:0.9339:0.0	.	907;907	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	907;483;667;907;667;653;667	ENSP00000346560:T907I;ENSP00000417774:T483I;ENSP00000419642:T667I;ENSP00000327880:T907I;ENSP00000373192:T667I;ENSP00000419874:T667I	ENSP00000327880:T907I	T	-	2	0	0	FILIP1L	101050490	101050490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	1.605000	0.50152	0.609000	0.83330	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	1	0	1		2	2	2	0		0	0	198		198	195	1	2.060000	-20.000000	1	0.170000	NM_014890			203	199		888	870	1		1	0		0	0	198	0		1	1	0	1	0	184	0	203	888
IQCG	84223	broad.mit.edu	37	3	197665544	197665544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	130						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433																																						ENST00000265239.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(388-390)ttG>ttA		IQ motif containing G							258.0	265.0	263.0					3																	197665544		2203	4300	6503	SO:0001819	synonymous_variant	84223	0	0					g.chr3:197665544C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.390G>A	chr3.hg19:g.197665544C>T		0					IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L	p.L130L	NM_032263.3	NP_115639.1	1	2	3	2.021329	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	5	814	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	1	1	hg19	c.390G>A	CCDS3331.1	1																																																																																								1.797608e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	1	0	0		2	2	2	0		0	0	297		297	295	1	2.060000	-20.000000	1	0.170000	NM_032263			284	276		1368	1338	1		1	1		0	0	297	0		1	9.955671e-01	0	6	0	35	0	284	1368
ADH4	127	broad.mit.edu	37	4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000265512.7	-	5	472	c.398C>T	c.(397-399)aCc>aTc	p.T133I	ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|ADH4_ENST00000508393.1_Missense_Mutation_p.T152I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	133					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)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		AAACCTGCTGGTTTTGTCTTC	0.338																																						ENST00000265512.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(397-399)aCc>aTc		alcohol dehydrogenase 4 (class II), pi polypeptide							103.0	100.0	101.0					4																	100057801		2203	4300	6503	SO:0001583	missense	127	0	0					g.chr4:100057801G>A	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.398C>T	chr4.hg19:g.100057801G>A	ENSP00000265512:p.Thr133Ile	0					ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|ADH4_ENST00000508393.1_Missense_Mutation_p.T152I|ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA	p.T133I	NM_000670.3	NP_000661.2	1	2	3	1.998139	P08319	ADH4_HUMAN		5	472	-			A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	1	1	hg19	c.398C>T	CCDS34032.1	1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544064	0.65198	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.55	3.7	0.42460	4.55	3.7	0.42460	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.388495	0.22795	N	0.055556	T	0.31734	0.0806	H	0.95365	3.66	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51601	-0.8685	10	0.87932	D	0	-8.474	14.6936	0.69103	0.0:0.1458:0.8542:0.0	.	152;133	P08319-2;P08319	.;ADH4_HUMAN	I	152;133;152;152;152	ENSP00000424630:T152I;ENSP00000265512:T133I;ENSP00000397939:T152I;ENSP00000425416:T152I;ENSP00000423571:T152I	ENSP00000265512:T133I	T	-	2	0	0	ADH4	100276824	100276824	0.999000	0.42202	0.989000	0.46669	0.900000	0.52787	2.643000	0.46604	1.135000	0.42183	0.650000	0.86243	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_000670			63	62		245	243	1		1			0	0	55	0		1	0	0	0	0	0	0	63	245
ADH6	130	broad.mit.edu	37	4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T	rs367908790		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000237653.7	-	7	1322	c.938G>A	c.(937-939)cGt>cAt	p.R313H	ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'Flank|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CTTCAAAGAACGTCCTGAGAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17316	0.0		0.001	False		,,,				2504	0.0					ENST00000237653.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(937-939)cGt>cAt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	135.0	131.0	133.0		938,938	3.0	0.4	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	313/369,313/376	100128629	1,13005	2203	4300	6503	SO:0001583	missense	130	6	121412	42				g.chr4:100128629C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.938G>A	chr4.hg19:g.100128629C>T	ENSP00000237653:p.Arg313His	0					RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394899.2_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Intron	p.R313H	NM_000672.3	NP_000663	1	2	3	1.998139	P28332	ADH6_HUMAN		7	1322	-			B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	1	1	hg19	c.938G>A	CCDS3647.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945042	0.53079	0.0	1.16E-4	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.8	2.95	0.34219	3.8	2.95	0.34219	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.46210	0.1381	M	0.90198	3.095	0.80722	D	1	D;P;D	0.89917	0.999;0.901;1.0	D;B;D	0.79108	0.949;0.308;0.992	T	0.53697	-0.8402	10	0.87932	D	0	-8.4352	11.3605	0.49640	0.0:0.9083:0.0:0.0917	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	H	313;104;313;249	ENSP00000378359:R313H;ENSP00000384997:R104H;ENSP00000237653:R313H;ENSP00000426187:R249H	ENSP00000237653:R313H	R	-	2	0	0	ADH6	100347652	100347652	0.998000	0.40836	0.403000	0.26384	0.171000	0.22731	4.432000	0.59922	0.698000	0.31739	0.563000	0.77884	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_000672			72	68		391	378	1		1			0	0	83	0		1	0	0	0	0	0	0	72	391
ADH6	130	broad.mit.edu	37	4	100140355	100140355	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100140355C>A	ENST00000237653.7	-	0	339				ADH6_ENST00000407820.2_5'Flank|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_De_novo_Start_OutOfFrame|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AAGGGAGATCCTGTAGCAACT	0.418																																						ENST00000237653.7	1.000000	0.190000	6.400000e-01	2.900000e-01	0.430000	0.473652	0.430000	0.390000																										0				20								alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)						111.0	93.0	99.0					4																	100140355		2203	4300	6503			130	0	0					g.chr4:100140355C>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.-46G>T	chr4.hg19:g.100140355C>A		0					RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'Flank|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_De_novo_Start_OutOfFrame		NM_000672.3	NP_000663	1	2	3	1.998139	P28332	ADH6_HUMAN		0	339	-			B3KS45|Q58F53	Translation_Start_Site	SNP	ENST00000237653.7	0	1	hg19		CCDS3647.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.318793	1	0.170000	NM_000672			7	7		200	199	0		1			0	0	29	0		9.808154e-01	0	0	0	0	0	0	7	200
ADH1A	124	broad.mit.edu	37	4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	97					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|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)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTCCACACTGAGGAATAGC	0.403																																						ENST00000209668.2	1.000000	0.210000	6.000000e-01	3.100000e-01	0.430000	0.469879	0.430000	0.410000																										0				25						c.(289-291)cAg>cGg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Ethanol(DB00898)|Fomepizole(DB01213)						96.0	92.0	94.0					4																	100205930		2203	4300	6503	SO:0001583	missense	124	0	0					g.chr4:100205930T>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.290A>G	chr4.hg19:g.100205930T>C	ENSP00000209668:p.Gln97Arg	0					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	p.Q97R	NM_000667.3	NP_000658.1	1	2	3	1.998139	P07327	ADH1A_HUMAN		4	403	-			A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	1	1	hg19	c.290A>G	CCDS3648.1	0	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023259	0.54683	.	.	ENSG00000187758	ENST00000209668	T	0.04758	3.56	3.51	3.51	0.40186	3.51	3.51	0.40186	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00670	-1.1617	10	0.87932	D	0	-18.8157	12.3143	0.54946	0.0:0.0:0.0:1.0	.	97	P07327	ADH1A_HUMAN	R	97	ENSP00000209668:Q97R	ENSP00000209668:Q97R	Q	-	2	0	0	ADH1A	100424953	100424953	1.000000	0.71417	0.981000	0.43875	0.348000	0.29142	5.514000	0.67043	1.354000	0.45846	0.377000	0.23210	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-11.096500	1	0.170000	NM_000667			10	10		280	277	0		1	0		0	0	62	0		9.968556e-01	0	0	0	0	1	0	10	280
ADH1A	124	broad.mit.edu	37	4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	59					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|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)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGGGGTCACCATGGTACCA	0.488																																						ENST00000209668.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(175-177)Gtg>Ttg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Ethanol(DB00898)|Fomepizole(DB01213)						181.0	161.0	168.0					4																	100208091		2203	4300	6503	SO:0001583	missense	124	0	0					g.chr4:100208091C>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.175G>T	chr4.hg19:g.100208091C>A	ENSP00000209668:p.Val59Leu	0					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.V59L	NM_000667.3	NP_000658.1	1	2	3	1.998139	P07327	ADH1A_HUMAN		3	288	-			A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	1	1	hg19	c.175G>T	CCDS3648.1	1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129175	0.08981	.	.	ENSG00000187758	ENST00000209668	T	0.04551	3.6	2.79	-1.21	0.09524	2.79	-1.21	0.09524	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.209390	0.05695	N	0.593050	T	0.02267	0.0070	N	0.02266	-0.62	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46091	-0.9216	10	0.87932	D	0	-0.0363	5.046	0.14485	0.1436:0.5154:0.0:0.341	.	59	P07327	ADH1A_HUMAN	L	59	ENSP00000209668:V59L	ENSP00000209668:V59L	V	-	1	0	0	ADH1A	100427114	100427114	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.817000	0.00359	-0.258000	0.09446	0.460000	0.39030	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	1	0	0		2	2	2	0		0	0	170		170	169	1	2.060000	-20.000000	1	0.170000	NM_000667			152	147		596	585	1		1	1		0	0	170	0		1	1.873736e-01	0	2	0	2	0	152	596
ADH1B	125	broad.mit.edu	37	4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	rs147811380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					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)			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)	GGTTATTAACGCATCCAGTGA	0.343													.|||	4	0.000798722	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0031					ENST00000305046.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1033-1035)gCg>gTg		alcohol dehydrogenase 1B (class I), beta polypeptide	Ethanol(DB00898)|Fomepizole(DB01213)	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	114.0	115.0	115.0		1034	2.0	0.0	4	dbSNP_134	115	0,8600		0,0,4300	no	missense	ADH1B	NM_000668.4	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	345/376	100231991	2,13004	2203	4300	6503	SO:0001583	missense	125	12	121408	43				g.chr4:100231991G>A	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.1034C>T	chr4.hg19:g.100231991G>A	ENSP00000306606:p.Ala345Val	0					ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V	p.A345V			1	2	3	1.998139	P00325	ADH1B_HUMAN		8	1101	-			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	1	1	hg19	c.1034C>T	CCDS34033.1	1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207604	0.06180	4.54E-4	0.0	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.06528	3.29;3.29	3.86	2.03	0.26663	3.86	2.03	0.26663	GroES-like (1);	0.489617	0.22393	N	0.060641	T	0.05960	0.0155	L	0.49513	1.565	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.34129	-0.9841	10	0.56958	D	0.05	0.8131	3.2959	0.06966	0.0879:0.1493:0.4565:0.3063	.	332;305;345	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	V	345;305;332	ENSP00000306606:A345V;ENSP00000378351:A305V	ENSP00000306606:A345V	A	-	2	0	0	ADH1B	100451014	100451014	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	1.077000	0.30741	0.189000	0.20188	0.561000	0.74099	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000	NM_000668			106	102		430	422	1		1	0		0	0	151	0		1	8.951310e-01	0	0	0	18	0	106	430
SLC2A9	56606	broad.mit.edu	37	4	10027631	10027631	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	ENST00000506583.1	-	3	178		c.e3-1		SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 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)			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)	GTTATTGTTTCTGAGAAAGAG	0.418																																						ENST00000506583.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.e3-1		solute carrier family 2 (facilitated glucose transporter), member 9	Losartan(DB00678)|Probenecid(DB01032)						82.0	87.0	85.0					4																	10027631		2202	4300	6502	SO:0001630	splice_region_variant	56606	0	0					g.chr4:10027631C>A	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	ENST00000506583.1:c.40-1G>T	chr4.hg19:g.10027631C>A		0					SLC2A9_ENST00000309065.3_Splice_Site				1	2	3	1.998139	Q9NRM0	GTR9_HUMAN		3	178	-			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Splice_Site	SNP	ENST00000506583.1	1	1	hg19		CCDS3406.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000		Intron		55	53		186	184	0		1			0	0	42	0		1	0	0	0	0	0	0	55	186
ADH1B	125	broad.mit.edu	37	4	100232703	100232703	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	313					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)			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)	CCTTCCAGGTGCGTCCAGTCA	0.438																																						ENST00000305046.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(937-939)cgC>cgT		alcohol dehydrogenase 1B (class I), beta polypeptide	Ethanol(DB00898)|Fomepizole(DB01213)						173.0	170.0	171.0					4																	100232703		2203	4300	6503	SO:0001819	synonymous_variant	125	0	0					g.chr4:100232703G>A	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.939C>T	chr4.hg19:g.100232703G>A		0					ADH1B_ENST00000394887.3_Silent_p.R273R	p.R313R			1	2	3	1.998139	P00325	ADH1B_HUMAN		7	1006	-			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	1	1	hg19	c.939C>T	CCDS34033.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	1	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-20.000000	1	0.170000	NM_000668			166	162		691	667	1		1	0		0	0	160	0		1	7.070043e-01	0	0	0	12	0	166	691
ADH7	131	broad.mit.edu	37	4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000209665.4	-	6	1066	c.826T>C	c.(826-828)Tac>Cac	p.Y276H	ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H|ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000437033.2_Missense_Mutation_p.Y264H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	276					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TCAAAGGTGTATCCCACGTTG	0.443																																						ENST00000209665.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(826-828)Tac>Cac		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide							126.0	108.0	114.0					4																	100341725		2203	4300	6503	SO:0001583	missense	131	0	0					g.chr4:100341725A>G	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.826T>C	chr4.hg19:g.100341725A>G	ENSP00000209665:p.Tyr276His	0					ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000437033.2_Missense_Mutation_p.Y264H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H	p.Y276H	NM_000673.4	NP_000664.2	1	2	3	1.998139	P40394	ADH7_HUMAN		6	1066	-			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	1	1	hg19	c.826T>C	CCDS34034.1	1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112927	0.56398	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.5	2.25	0.28309	3.5	2.25	0.28309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.434279	0.25202	N	0.032361	T	0.30070	0.0753	M	0.72353	2.195	0.25964	N	0.982585	B	0.31193	0.312	P	0.47346	0.544	T	0.22730	-1.0208	10	0.51188	T	0.08	-26.601	8.9963	0.36055	0.9081:0.0:0.0918:0.0	.	276	P40394	ADH7_HUMAN	H	264;276;207;284	ENSP00000414254:Y264H;ENSP00000209665:Y276H;ENSP00000420613:Y207H;ENSP00000420269:Y284H	ENSP00000209665:Y276H	Y	-	1	0	0	ADH7	100560748	100560748	0.426000	0.25506	0.000000	0.03702	0.281000	0.26958	5.249000	0.65427	0.489000	0.27749	0.460000	0.39030	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	79		79	76	1	2.060000	-20.000000	1	0.170000	NM_000673			55	53		261	258	1		1			0	0	79	0		1	0	0	0	0	0	0	55	261
ADH7	131	broad.mit.edu	37	4	100341936	100341936	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000209665.4	-	6	855	c.615C>A	c.(613-615)tcC>tcA	p.S205S	ADH7_ENST00000482593.1_Silent_p.S136S|ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000437033.2_Silent_p.S193S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	205					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CGACGCAAGTGGAACCAGGTT	0.473																																						ENST00000209665.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(613-615)tcC>tcA		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide							67.0	58.0	61.0					4																	100341936		2203	4300	6503	SO:0001819	synonymous_variant	131	0	0					g.chr4:100341936G>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.615C>A	chr4.hg19:g.100341936G>T		0					ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000437033.2_Silent_p.S193S|ADH7_ENST00000482593.1_Silent_p.S136S	p.S205S	NM_000673.4	NP_000664.2	1	2	3	1.998139	P40394	ADH7_HUMAN		6	855	-			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	1	1	hg19	c.615C>A	CCDS34034.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_000673			35	34		162	159	0		1			0	0	42	0		1	0	0	0	0	0	0	35	162
ADH7	131	broad.mit.edu	37	4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000209665.4	-	3	419	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000437033.2_Missense_Mutation_p.R48H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	60					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GTCATCTGTGCGACAGATTCC	0.413																																						ENST00000209665.4	1.000000	0.560000	9.300000e-01	6.600000e-01	0.780000	0.796434	0.780000	1.000000																										0				19						c.(178-180)cGc>cAc		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide							195.0	162.0	173.0					4																	100349765		2203	4300	6503	SO:0001583	missense	131	8	121408	41				g.chr4:100349765C>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.179G>A	chr4.hg19:g.100349765C>T	ENSP00000209665:p.Arg60His	0					ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000437033.2_Missense_Mutation_p.R48H|ADH7_ENST00000482593.1_5'UTR	p.R60H	NM_000673.4	NP_000664.2	1	2	3	1.998139	P40394	ADH7_HUMAN		3	419	-			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	1	1	hg19	c.179G>A	CCDS34034.1	0	.	.	.	.	.	.	.	.	.	.	C	3.540	-0.093892	0.07053	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.02682	4.2;4.2;4.2	4.02	0.0509	0.14296	4.02	0.0509	0.14296	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.514876	0.22398	N	0.060597	T	0.00695	0.0023	N	0.00339	-1.615	0.40885	D	0.98402	B	0.22080	0.064	B	0.17722	0.019	T	0.50499	-0.8821	10	0.02654	T	1	-0.7343	8.3891	0.32518	0.0:0.6467:0.0:0.3533	.	60	P40394	ADH7_HUMAN	H	48;60;68	ENSP00000414254:R48H;ENSP00000209665:R60H;ENSP00000420269:R68H	ENSP00000209665:R60H	R	-	2	0	0	ADH7	100568788	100568788	1.000000	0.71417	0.493000	0.27502	0.998000	0.95712	0.598000	0.24074	-0.246000	0.09611	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	128		128	128	1	2.060000	-8.377063	1	0.170000	NM_000673			41	40		584	578	0		1			0	0	128	0		1	0	0	0	0	0	0	41	584
WDR1	9948	broad.mit.edu	37	4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000499869.2	-	12	1572	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A|WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A			O75083	WDR1_HUMAN	WD repeat domain 1	460					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597																																						ENST00000499869.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1378-1380)gTg>gCg		WD repeat domain 1							80.0	97.0	91.0					4																	10080531		2013	4173	6186	SO:0001583	missense	9948	0	0					g.chr4:10080531A>G	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1379T>C	chr4.hg19:g.10080531A>G	ENSP00000427687:p.Val460Ala	0					MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A	p.V460A			1	2	3	1.998139	O75083	WDR1_HUMAN		12	1572	-			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	1	1	hg19	c.1379T>C	CCDS54740.1	1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695137	0.15039	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.54479	0.57;0.57;0.78;0.78	4.65	3.3	0.37823	4.65	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.238849	0.42172	D	0.000747	T	0.37652	0.1011	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-18.0285	8.0394	0.30513	0.8561:0.0:0.1439:0.0	.	320;460	O75083-3;O75083	.;WDR1_HUMAN	A	460;460;320;320;295	ENSP00000427687:V460A;ENSP00000371890:V460A;ENSP00000371889:V320A;ENSP00000426725:V320A	ENSP00000371889:V320A	V	-	2	0	0	WDR1	9689629	9689629	0.996000	0.38824	0.986000	0.45419	0.052000	0.14988	2.015000	0.40961	1.864000	0.54056	0.379000	0.24179	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000				44	44		193	187	1		1	1		0	0	72	0		1	1	0	278	0	809	0	44	193
DAPP1	27071	broad.mit.edu	37	4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000512369.1	+	3	369	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S101T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	101	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)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333																																						ENST00000512369.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				6						c.(301-303)Tct>Act		dual adaptor of phosphotyrosine and 3-phosphoinositides							59.0	55.0	56.0					4																	100761522		1817	4078	5895	SO:0001583	missense	27071	0	0					g.chr4:100761522T>A	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.301T>A	chr4.hg19:g.100761522T>A	ENSP00000423602:p.Ser101Thr	0					DAPP1_ENST00000296414.7_Missense_Mutation_p.S101T	p.S101T	NM_014395.2	NP_055210.2	1	2	3	1.998139	Q9UN19	DAPP1_HUMAN		3	369	+			Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	1	1	hg19	c.301T>A	CCDS47112.1	1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473587	0.43942	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89681	-2.55;-2.55	5.55	4.32	0.51571	5.55	4.32	0.51571	SH2 motif (5);	0.295543	0.34245	N	0.004132	T	0.78394	0.4276	N	0.21194	0.64	0.38763	D	0.954374	B;B;B	0.24426	0.103;0.003;0.001	B;B;B	0.23574	0.047;0.005;0.007	T	0.72265	-0.4344	10	0.15499	T	0.54	1.7998	8.2107	0.31481	0.3907:0.0:0.0:0.6093	.	101;101;101	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	101	ENSP00000296414:S101T;ENSP00000423602:S101T	ENSP00000296414:S101T	S	+	1	0	0	DAPP1	100980545	100980545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.132000	0.50523	2.117000	0.64856	0.533000	0.62120	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				22	21		97	95	1		1	0		0	0	30	0		9.999992e-01	5.268149e-01	0	0	0	9	0	22	97
H2AFZ	3015	broad.mit.edu	37	4	100870520	100870520	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000507494.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	35					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATTTTAGGTGTCGATGAATAC	0.483											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5	1.000000	0.970000	1	9.900000e-01	0.990000	0.997532	0.990000	1.000000																										0				5						c.(103-105)cgA>cgG		H2A histone family, member Z							60.0	60.0	60.0					4																	100870520		2203	4300	6503	SO:0001819	synonymous_variant	3015	0	0					g.chr4:100870520T>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.105A>G	chr4.hg19:g.100870520T>C		0		OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	p.R35R	NM_002106.3	NP_002097.1	1	2	3	1.998139	P0C0S5	H2AZ_HUMAN		3	322	-			B2RD56|P17317|Q6I9U0	Silent	SNP	ENST00000296417.5	1	1	hg19	c.105A>G	CCDS3654.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	0		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_002106			26	25		189	186	1		1	1		0	0	65	0		9.999999e-01	1	0	308	0	995	0	26	189
H2AFZ	3015	broad.mit.edu	37	4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000507494.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	32					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				5						c.(94-96)cGt>cAt		H2A histone family, member Z							57.0	57.0	57.0					4																	100870530		2203	4300	6503	SO:0001583	missense	3015	0	0					g.chr4:100870530C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.95G>A	chr4.hg19:g.100870530C>T	ENSP00000296417:p.Arg32His	0		OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	p.R32H	NM_002106.3	NP_002097.1	1	2	3	1.998139	P0C0S5	H2AZ_HUMAN		3	312	-			B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	1	1	hg19	c.95G>A	CCDS3654.1	1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369968	0.61624	.	.	ENSG00000164032	ENST00000296417	D	0.85258	-1.96	3.62	3.62	0.41486	3.62	3.62	0.41486	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96111	3.77	0.80722	D	1	B	0.27450	0.179	B	0.13407	0.009	D	0.90583	0.4531	10	0.62326	D	0.03	-3.3569	15.4655	0.75397	0.0:1.0:0.0:0.0	.	32	P0C0S5	H2AZ_HUMAN	H	32	ENSP00000296417:R32H	ENSP00000296417:R32H	R	-	2	0	0	H2AFZ	101089553	101089553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.107000	0.64603	1.853000	0.53794	0.555000	0.69702	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_002106			31	30		178	175	1		1	1		0	0	64	0		1	1	0	260	0	858	0	31	178
FGFRL1	53834	broad.mit.edu	37	4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	426					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726																																						ENST00000398484.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999890	0.990000	1.000000																										0				13						c.(1276-1278)cGc>cAc		fibroblast growth factor receptor-like 1							12.0	13.0	13.0					4																	1018897		2183	4264	6447	SO:0001583	missense	53834	2	120308	31				g.chr4:1018897G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1277G>A	chr4.hg19:g.1018897G>A	ENSP00000381498:p.Arg426His	0					FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|RP11-460I19.2_ENST00000503095.1_lincRNA	p.R426H			1	2	3	1.998139	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	8	1857	+			B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	1	1	hg19	c.1277G>A	CCDS3344.1	1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967696	0.34754	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.124081	0.53938	D	0.000042	T	0.56381	0.1981	L	0.33485	1.01	0.58432	D	0.999996	B	0.33694	0.421	B	0.28553	0.091	T	0.55095	-0.8194	10	0.13853	T	0.58	-20.067	15.7273	0.77770	0.0:0.0:1.0:0.0	.	426	Q8N441	FGRL1_HUMAN	H	426;396;426;426;426	ENSP00000381498:R426H;ENSP00000425025:R426H;ENSP00000423091:R426H;ENSP00000264748:R426H	ENSP00000264748:R426H	R	+	2	0	0	FGFRL1	1008897	1008897	0.214000	0.23563	0.659000	0.29680	0.023000	0.10783	1.039000	0.30266	1.943000	0.56356	0.456000	0.33151	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_021923			24	24		126	125	1		1	1		0	0	21	0		9.999998e-01	7.795839e-01	0	9	0	8	0	24	126
WDR1	9948	broad.mit.edu	37	4	10099401	10099401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000499869.2	-	5	685	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	164					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507																																						ENST00000499869.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(490-492)acG>acA		WD repeat domain 1							67.0	72.0	70.0					4																	10099401		1970	4158	6128	SO:0001819	synonymous_variant	9948	0	0					g.chr4:10099401C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.492G>A	chr4.hg19:g.10099401C>T		0					WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000502702.1_Intron	p.T164T			1	2	3	1.998139	O75083	WDR1_HUMAN		5	685	-			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	1	1	hg19	c.492G>A	CCDS54740.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-2.517460	1	0.170000				49	47		203	196	1		1	1		0	0	52	0		1	1	0	291	0	930	0	49	203
WDR1	9948	broad.mit.edu	37	4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000499869.2	-	4	480	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	96					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582																																						ENST00000499869.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				12						c.(286-288)tAt>tGt		WD repeat domain 1							115.0	118.0	117.0					4																	10100706		2011	4187	6198	SO:0001583	missense	9948	10	120942	41				g.chr4:10100706T>C	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.287A>G	chr4.hg19:g.10100706T>C	ENSP00000427687:p.Tyr96Cys	0					WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000502702.1_Intron	p.Y96C			1	2	3	1.998139	O75083	WDR1_HUMAN		4	480	-			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	1	1	hg19	c.287A>G	CCDS54740.1	1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892974	0.72524	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56103	0.48;0.48;0.57	5.91	4.7	0.59300	5.91	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059555	0.64402	D	0.000001	T	0.70613	0.3244	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.70821	-0.4768	10	0.39692	T	0.17	-14.3005	11.6533	0.51301	0.1329:0.0:0.0:0.8671	.	96	O75083	WDR1_HUMAN	C	96;96;100	ENSP00000427687:Y96C;ENSP00000371890:Y96C;ENSP00000425481:Y100C	ENSP00000371890:Y96C	Y	-	2	0	0	WDR1	9709804	9709804	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.662000	0.83803	1.017000	0.39495	0.533000	0.62120	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				56	55		374	366	1		1	1		0	0	70	0		1	1	0	122	0	784	0	56	374
H2AFZ	3015	broad.mit.edu	37	4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000507494.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	11	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587																																						ENST00000296417.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(31-33)gGa>gAa		H2A histone family, member Z							71.0	80.0	77.0					4																	100870869		2203	4300	6503	SO:0001583	missense	3015	0	0					g.chr4:100870869C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.32G>A	chr4.hg19:g.100870869C>T	ENSP00000296417:p.Gly11Glu	0					RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	p.G11E	NM_002106.3	NP_002097.1	1	2	3	1.998139	P0C0S5	H2AZ_HUMAN		2	249	-			B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	1	1	hg19	c.32G>A	CCDS3654.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408380	0.62399	.	.	ENSG00000164032	ENST00000296417	D	0.84730	-1.89	3.09	1.24	0.21308	3.09	1.24	0.21308	Histone-fold (2);Histone H2A (1);	0.051378	0.85682	D	0.000000	D	0.83298	0.5224	M	0.83012	2.62	0.54753	D	0.999985	B	0.17038	0.02	B	0.04013	0.001	T	0.79303	-0.1859	10	0.59425	D	0.04	-3.6892	8.7116	0.34387	0.0:0.8018:0.0:0.1982	.	11	P0C0S5	H2AZ_HUMAN	E	11	ENSP00000296417:G11E	ENSP00000296417:G11E	G	-	2	0	0	H2AFZ	101089892	101089892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	0.507000	0.28148	0.455000	0.32223	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_002106			107	106		534	523	1		1	1		0	0	132	0		1	1	0	288	0	896	0	107	534
PPP3CA	5530	broad.mit.edu	37	4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	511					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)			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)		GCCATTGCTGTCCGTGCCGTT	0.458																																						ENST00000394854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1531-1533)gAc>gGc		protein phosphatase 3, catalytic subunit, alpha isozyme							275.0	254.0	261.0					4																	101947056		2203	4300	6503	SO:0001583	missense	5530	0	0					g.chr4:101947056T>C		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.1532A>G	chr4.hg19:g.101947056T>C	ENSP00000378323:p.Asp511Gly	0					PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G	p.D511G	NM_000944.4	NP_000935.1	1	2	3	1.998139	Q08209	PP2BA_HUMAN		14	2215	-			A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	1	1	hg19	c.1532A>G	CCDS34037.1	1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055917	0.36277	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47528	0.84;2.42;2.37;2.41;2.18;2.44	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.055071	0.64402	D	0.000001	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P;P;B;B	0.40534	0.455;0.72;0.455;0.59;0.247;0.247	B;B;B;B;B;B	0.43536	0.114;0.423;0.163;0.228;0.125;0.163	T	0.16958	-1.0385	10	0.09843	T	0.71	-11.4256	16.6154	0.84909	0.0:0.0:0.0:1.0	.	511;279;459;501;413;444	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	279;511;459;501;413;444	ENSP00000422781:D279G;ENSP00000378323:D511G;ENSP00000320580:D459G;ENSP00000378322:D501G;ENSP00000422990:D413G;ENSP00000429350:D444G	ENSP00000320580:D459G	D	-	2	0	0	PPP3CA	102166079	102166079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.315000	0.78130	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_000944			163	155		746	714	1		1	1		0	0	139	0		1	1	0	75	0	178	0	163	746
PPP3CA	5530	broad.mit.edu	37	4	102117166	102117166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	56	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)			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)		CTCTCTTCCAGCCTTCCCTCC	0.423																																						ENST00000394854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(166-168)Ctg>Ttg		protein phosphatase 3, catalytic subunit, alpha isozyme							139.0	140.0	139.0					4																	102117166		2203	4300	6503	SO:0001819	synonymous_variant	5530	0	0					g.chr4:102117166G>A		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.166C>T	chr4.hg19:g.102117166G>A		0					PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000394853.4_Silent_p.L56L	p.L56L	NM_000944.4	NP_000935.1	1	2	3	1.998139	Q08209	PP2BA_HUMAN		2	849	-			A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	1	1	hg19	c.166C>T	CCDS34037.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_000944			70	68		321	315	1		1	1		0	0	76	0		1	1	0	34	0	111	0	70	321
BANK1	55024	broad.mit.edu	37	4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000322953.4	+	2	720	c.446T>C	c.(445-447)gTa>gCa	p.V149A	BANK1_ENST00000504592.1_Missense_Mutation_p.V134A|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	149	Interaction with ITPR2.				B cell activation (GO:0042113)					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)		TACATCTCTGTAATCCAGAGT	0.323																																						ENST00000322953.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(445-447)gTa>gCa		B-cell scaffold protein with ankyrin repeats 1							55.0	60.0	58.0					4																	102751340		2193	4297	6490	SO:0001583	missense	55024	0	0					g.chr4:102751340T>C	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.446T>C	chr4.hg19:g.102751340T>C	ENSP00000320509:p.Val149Ala	0					BANK1_ENST00000504592.1_Missense_Mutation_p.V134A|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000428908.1_Intron	p.V149A	NM_017935.4	NP_060405	1	2	3	1.998139	Q8NDB2	BANK1_HUMAN		2	720	+		Hepatocellular(203;0.217)	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	1	1	hg19	c.446T>C	CCDS34038.1	1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896933	0.33535	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.10005	2.92;2.92;2.92	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.424012	0.20636	N	0.088481	T	0.19446	0.0467	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.06570	-1.0819	10	0.15499	T	0.54	.	14.4797	0.67573	0.0:0.0:0.0:1.0	.	149;134	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	A	134;149;119	ENSP00000421443:V134A;ENSP00000320509:V149A;ENSP00000388817:V119A	ENSP00000320509:V149A	V	+	2	0	0	BANK1	102970363	102970363	0.923000	0.31300	0.808000	0.32385	0.974000	0.67602	2.253000	0.43205	2.006000	0.58801	0.528000	0.53228	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_017935			73	73		281	277	1		1	1		0	0	57	0		1	9.691440e-01	0	10	0	14	0	73	281
NFKB1	4790	broad.mit.edu	37	4	103534584	103534584	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000505458.1	+	23	2869	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	NFKB1_ENST00000600343.1_Silent_p.V684V|NFKB1_ENST00000226574.4_Silent_p.V865V|NFKB1_ENST00000394820.4_Silent_p.V864V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	864	Death.|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)			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)	TCTCACAGGTCTCTGGGGGTA	0.557																																						ENST00000505458.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				27						c.(2590-2592)gtC>gtA		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)						54.0	51.0	52.0					4																	103534584		2203	4300	6503	SO:0001819	synonymous_variant	4790	0	0					g.chr4:103534584C>A	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.2592C>A	chr4.hg19:g.103534584C>A		0					NFKB1_ENST00000226574.4_Silent_p.V865V|NFKB1_ENST00000600343.1_Silent_p.V684V|NFKB1_ENST00000394820.4_Silent_p.V864V	p.V864V			1	2	3	1.998139	P19838	NFKB1_HUMAN		23	2869	+		Hepatocellular(203;0.217)	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	1	1	hg19	c.2592C>A	CCDS54783.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				46	46		275	273	1		1	1		0	0	69	0		1	1	0	45	0	170	0	46	275
MANBA	4126	broad.mit.edu	37	4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	245					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)			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)		CACCAACTGGCTTTGAGCTGA	0.363																																						ENST00000226578.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(733-735)aaG>aaT		mannosidase, beta A, lysosomal							237.0	205.0	216.0					4																	103611867		2203	4300	6503	SO:0001583	missense	4126	0	0					g.chr4:103611867C>A		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.735G>T	chr4.hg19:g.103611867C>A	ENSP00000226578:p.Lys245Asn	0					MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	p.K245N	NM_005908.3	NP_005899.3	1	2	3	1.998139	O00462	MANBA_HUMAN		6	834	-		Hepatocellular(203;0.217)	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	1	1	hg19	c.735G>T	CCDS3658.1	1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539632	0.27563	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.59224	0.28;0.28	5.02	3.14	0.36123	5.02	3.14	0.36123	.	0.329652	0.33327	N	0.005035	T	0.53883	0.1824	M	0.76838	2.35	0.34998	D	0.755714	P;P	0.45902	0.868;0.543	B;B	0.39660	0.306;0.265	T	0.65319	-0.6197	10	0.27785	T	0.31	-20.7191	10.1461	0.42764	0.0:0.8213:0.0:0.1787	.	188;245	E9PFW2;O00462	.;MANBA_HUMAN	N	245;188	ENSP00000226578:K245N;ENSP00000427322:K188N	ENSP00000226578:K245N	K	-	3	2	2	MANBA	103830915	103830915	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	1.643000	0.37217	1.337000	0.45525	0.650000	0.86243	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2	1	0	1		2	2	2	0		0	0	152		152	151	1	2.060000	-20.000000	1	0.170000				147	146		667	649	1		1	1		0	0	152	0		1	1	0	27	0	90	0	147	667
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	G	A	rs181237399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000296424.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F211F(1)	large_intestine(1)	10						c.(631-633)ttC>ttT		3-hydroxybutyrate dehydrogenase, type 2		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	SO:0001819	synonymous_variant	56898	6	121410	39				g.chr4:104003289G>A	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	chr4.hg19:g.104003289G>A		0						p.F211F	NM_020139.3	NP_064524.3	1	2	3	1.998139	Q9BUT1	BDH2_HUMAN		9	753	-		Hepatocellular(203;0.217)	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	1	1	hg19	c.633C>T	CCDS3663.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.481098	1	0.170000	NM_020139			38	38		168	167	1		1	1		0	0	55	0		1	1	0	50	0	201	0	38	168
CENPE	1062	broad.mit.edu	37	4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A	rs267599968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000265148.3	-	44	7239	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2384	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328																																						ENST00000265148.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				101						c.(7150-7152)Cga>Tga		centromere protein E, 312kDa							82.0	71.0	75.0					4																	104041484		2202	4297	6499	SO:0001587	stop_gained	1062	0	0					g.chr4:104041484G>A	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.7150C>T	chr4.hg19:g.104041484G>A	ENSP00000265148:p.Arg2384*	0					CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	p.R2384*	NM_001813.2	NP_001804.2	1	2	3	1.998139	Q02224	CENPE_HUMAN		44	7239	-			A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	0	1	hg19	c.7150C>T	CCDS34042.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.817774	0.99698	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.62	3.76	0.43208	4.62	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.2376	0.43292	0.0:0.0:0.8017:0.1982	.	.	.	.	X	2384;2263	.	ENSP00000265148:R2384X	R	-	1	2	2	CENPE	104260933	104260933	1.000000	0.71417	0.916000	0.36221	0.067000	0.16453	1.925000	0.40074	1.011000	0.39340	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-3.387669	1	0.170000				24	24		123	122	1		1	1		0	0	31	0		9.999998e-01	6.950202e-01	0	3	0	11	0	24	123
ZNF518B	85460	broad.mit.edu	37	4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	852					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)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458																																						ENST00000326756.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2554-2556)gCt>gTt		zinc finger protein 518B							76.0	75.0	75.0					4																	10445398		2203	4300	6503	SO:0001583	missense	85460	0	0					g.chr4:10445398G>A	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.2555C>T	chr4.hg19:g.10445398G>A	ENSP00000317614:p.Ala852Val	0						p.A852V	NM_053042.2	NP_444270.2	1	2	3	1.998139	Q9C0D4	Z518B_HUMAN		3	2993	-			Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	1	1	hg19	c.2555C>T	CCDS33960.1	1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829330	0.50845	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	3.3	0.37823	6.02	3.3	0.37823	.	0.580762	0.16657	N	0.204927	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46898	-0.9158	10	0.37606	T	0.19	-3.4808	7.1753	0.25740	0.1424:0.0:0.7213:0.1363	.	852	Q9C0D4	Z518B_HUMAN	V	852	ENSP00000317614:A852V	ENSP00000317614:A852V	A	-	2	0	0	ZNF518B	10054496	10054496	0.002000	0.14202	0.176000	0.23000	0.082000	0.17680	1.124000	0.31320	0.887000	0.36136	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_053042			87	85		308	303	1		1	0		0	0	69	0		1	5.565378e-01	0	0	0	8	0	87	308
CENPE	1062	broad.mit.edu	37	4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000265148.3	-	25	3130	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1014					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289																																						ENST00000265148.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999356	0.990000	1.000000																										0				101						c.(3040-3042)gGc>gAc		centromere protein E, 312kDa							89.0	84.0	85.0					4																	104074400		2203	4298	6501	SO:0001583	missense	1062	0	0					g.chr4:104074400C>T	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.3041G>A	chr4.hg19:g.104074400C>T	ENSP00000265148:p.Gly1014Asp	0					CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	p.G1014D	NM_001813.2	NP_001804.2	1	2	3	1.998139	Q02224	CENPE_HUMAN		25	3130	-			A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	1	1	hg19	c.3041G>A	CCDS34042.1	1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475696	0.04414	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	-8.11	0.01082	4.08	-8.11	0.01082	.	.	.	.	.	D	0.83797	0.5332	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.70447	-0.4869	9	0.06625	T	0.88	.	10.9198	0.47158	0.0:0.1096:0.1993:0.6911	.	989;1014	Q02224-3;Q02224	.;CENPE_HUMAN	D	1014;1014;989;1014	ENSP00000265148:G1014D;ENSP00000369365:G989D;ENSP00000423981:G1014D	ENSP00000265148:G1014D	G	-	2	0	0	CENPE	104293849	104293849	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-3.588000	0.00422	-2.091000	0.00858	-1.051000	0.02340	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				25	23		158	155	1		1	0		0	0	29	0		9.999999e-01	1.496853e-01	0	0	0	5	0	25	158
TACR3	6870	broad.mit.edu	37	4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	281					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)			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)		CAGGTATCTCCTGGGATTTCT	0.403																																						ENST00000304883.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(841-843)Gga>Tga		tachykinin receptor 3							139.0	138.0	138.0					4																	104577398		2203	4300	6503	SO:0001587	stop_gained	6870	0	0					g.chr4:104577398C>A	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.841G>T	chr4.hg19:g.104577398C>A	ENSP00000303325:p.Gly281*	0						p.G281*	NM_001059.2	NP_001050.1	1	2	3	1.998139	P29371	NK3R_HUMAN		3	981	-		Hepatocellular(203;0.217)	Q0P510	Nonsense_Mutation	SNP	ENST00000304883.2	0	1	hg19	c.841G>T	CCDS3664.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.817814	0.98507	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000303325:G281X	G	-	1	0	0	TACR3	104796847	104796847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.151169	1	0.170000	NM_001059			98	93		404	397	1		1			0	0	85	0		1	0	0	0	0	0	0	98	404
CXXC4	80319	broad.mit.edu	37	4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000426831.1	-	1	252	c.238C>T	c.(238-240)Cca>Tca	p.P80S	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.P249S|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	80					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGACCCCTGGAGGTAATGAG	0.577																																						ENST00000426831.1	1.000000	0.340000	6.400000e-01	4.100000e-01	0.510000	0.543312	0.510000	0.500000																										0				11						c.(238-240)Cca>Tca		CXXC finger protein 4							82.0	91.0	88.0					4																	105412215		2203	4300	6503	SO:0001583	missense	80319	0	0					g.chr4:105412215G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.238C>T	chr4.hg19:g.105412215G>A	ENSP00000412267:p.Pro80Ser	0					CXXC4_ENST00000394767.2_Missense_Mutation_p.P249S|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	p.P80S			1	2	3	1.998139	Q9H2H0	CXXC4_HUMAN		1	252	-				Missense_Mutation	SNP	ENST00000426831.1	1	1	hg19	c.238C>T		0	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517068	0.64634	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.379473	0.08080	U	1.000000	T	0.56187	0.1968	N	0.08118	0	0.54753	D	0.999983	D	0.63880	0.993	D	0.70227	0.968	T	0.56643	-0.7945	9	0.45353	T	0.12	-5.7325	15.454	0.75299	0.0:0.0:1.0:0.0	.	80	Q9H2H0	CXXC4_HUMAN	S	80	.	ENSP00000378248:P80S	P	-	1	0	0	CXXC4	105631664	105631664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.567000	0.90737	2.241000	0.73720	0.479000	0.44913	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-2.966611	1	0.170000	NM_025212			27	26		608	600	0		1			0	0	125	0		9.999999e-01	0	0	0	0	0	0	27	608
TET2	54790	broad.mit.edu	37	4	106155474	106155474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000540549.1	+	3	1235	c.375C>T	c.(373-375)ttC>ttT	p.F125F	TET2_ENST00000513237.1_Silent_p.F146F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					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.F125fs*3(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)		GACGTAACTTCGGGGTAAGCC	0.418			"""Mis N, F"""		MDS																																	ENST00000540549.1	1.000000	0.240000	6.700000e-01	3.400000e-01	0.480000	0.516328	0.480000	0.440000				Rec	yes			Rec	yes		4	4q24	4q24	54790	Mis N, F	tet oncogene family member 2				L	L			MDS		1	Deletion - Frameshift(1)	p.F125fs*3(1)	haematopoietic_and_lymphoid_tissue(1)	1314						c.(373-375)ttC>ttT		tet methylcytosine dioxygenase 2							58.0	57.0	58.0					4																	106155474		2203	4300	6503	SO:0001819	synonymous_variant	54790	0	0					g.chr4:106155474C>T	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.375C>T	chr4.hg19:g.106155474C>T		0					TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000513237.1_Silent_p.F146F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F	p.F125F			1	2	3	1.998139	Q6N021	TET2_HUMAN		3	1235	+		Myeloproliferative disorder(5;0.0393)	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	1	1	hg19	c.375C>T	CCDS47120.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.362402	1	0.170000	NM_017628			10	9		250	246	0		1	0		0	0	49	0		9.967321e-01	1.617933e-01	0	0	0	17	0	10	250
TET2	54790	broad.mit.edu	37	4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000540549.1	+	3	2628	c.1768C>A	c.(1768-1770)Ctt>Att	p.L590I	TET2_ENST00000513237.1_Missense_Mutation_p.L611I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	590					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)			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)		GCCATCAATTCTTCAGTATCA	0.463			"""Mis N, F"""		MDS																																	ENST00000540549.1	1.000000	0.780000	1	9.300000e-01	0.990000	0.973826	0.990000	1.000000				Rec	yes			Rec	yes		4	4q24	4q24	54790	Mis N, F	tet oncogene family member 2				L	L			MDS		0				1314						c.(1768-1770)Ctt>Att		tet methylcytosine dioxygenase 2							71.0	72.0	72.0					4																	106156867		2203	4300	6503	SO:0001583	missense	54790	0	0					g.chr4:106156867C>A	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.1768C>A	chr4.hg19:g.106156867C>A	ENSP00000442788:p.Leu590Ile	0					TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000513237.1_Missense_Mutation_p.L611I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I	p.L590I			1	2	3	1.998139	Q6N021	TET2_HUMAN		3	2628	+		Myeloproliferative disorder(5;0.0393)	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	1	1	hg19	c.1768C>A	CCDS47120.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902755	0.33628	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59	5.59	0.84812	5.59	5.59	0.84812	.	15.888400	0.00166	N	0.000011	T	0.45094	0.1325	L	0.34521	1.04	0.33163	D	0.547245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.946;0.946;0.982	T	0.38887	-0.9640	10	0.56958	D	0.05	.	17.7861	0.88538	0.0:1.0:0.0:0.0	.	611;590;590	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	590;590;590;611;590;590;590;590	ENSP00000306705:L590I;ENSP00000442788:L590I;ENSP00000442867:L590I;ENSP00000425443:L611I;ENSP00000369351:L590I;ENSP00000378245:L590I;ENSP00000391448:L590I	ENSP00000265149:L590I	L	+	1	0	0	TET2	106376316	106376316	0.996000	0.38824	0.038000	0.18304	0.044000	0.14063	3.588000	0.53964	2.631000	0.89168	0.650000	0.86243	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.221883	1	0.170000	NM_017628			34	32		333	326	0		1	1		0	0	90	0		1	5.981357e-01	0	2	0	19	0	34	333
GSTCD	79807	broad.mit.edu	37	4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	171	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423																																						ENST00000515279.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(511-513)Act>Gct		glutathione S-transferase, C-terminal domain containing							84.0	95.0	92.0					4																	106640301		2203	4300	6503	SO:0001583	missense	79807	5	121410	41				g.chr4:106640301A>G	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.511A>G	chr4.hg19:g.106640301A>G	ENSP00000422354:p.Thr171Ala	0					GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A	p.T171A			1	2	3	1.998139	Q8NEC7	GSTCD_HUMAN		3	731	+		Hepatocellular(203;0.217)	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	1	1	hg19	c.511A>G	CCDS43257.1	1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202745	0.01581	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	-10.3	0.00346	5.17	-10.3	0.00346	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.899655	0.09733	N	0.762952	T	0.18923	0.0454	L	0.28504	0.86	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.17228	-1.0376	9	0.10111	T	0.7	-14.6755	6.6856	0.23144	0.3021:0.0757:0.4727:0.1494	.	84;171	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	A	84;84;171;171;171	.	ENSP00000353695:T171A	T	+	1	0	0	GSTCD	106859750	106859750	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.378000	0.02556	-1.941000	0.01042	-0.417000	0.06048	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	1	0	1		2	2	2	0		0	0	138		138	135	1	2.060000	-20.000000	1	0.170000	NM_024751			144	139		493	482	1		1	1		0	0	138	0		1	9.853179e-01	0	11	0	14	0	144	493
RNF212	285498	broad.mit.edu	37	4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	256					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433731.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(766-768)tAt>tGt		ring finger protein 212							110.0	110.0	110.0					4																	1066789		2203	4300	6503	SO:0001583	missense	285498	0	0					g.chr4:1066789T>C	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.767A>G	chr4.hg19:g.1066789T>C	ENSP00000389709:p.Tyr256Cys	0		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_ENST00000382968.5_3'UTR	p.Y256C			1	2	3	1.998139	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	10	828	-			C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	1	1	hg19	c.767A>G	CCDS46996.1	1	.	.	.	.	.	.	.	.	.	.	T	1.736	-0.492944	0.04322	.	.	ENSG00000178222	ENST00000433731	T	0.55234	0.53	1.49	-2.98	0.05513	1.49	-2.98	0.05513	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12734	-1.0536	9	0.87932	D	0	.	6.8661	0.24094	0.0:0.3195:0.0:0.6805	.	256	Q495C1	RN212_HUMAN	C	256	ENSP00000389709:Y256C	ENSP00000389709:Y256C	Y	-	2	0	0	RNF212	1056789	1056789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.213000	0.02991	-1.391000	0.02085	-1.122000	0.02009	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_194439			48	47		229	222	1		1	0		0	0	59	0		1	0	0	0	0	1	0	48	229
GSTCD	79807	broad.mit.edu	37	4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	224	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483																																						ENST00000515279.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(670-672)caG>caT		glutathione S-transferase, C-terminal domain containing							110.0	115.0	113.0					4																	106640462		2203	4300	6503	SO:0001583	missense	79807	0	0					g.chr4:106640462G>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.672G>T	chr4.hg19:g.106640462G>T	ENSP00000422354:p.Gln224His	0					GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H	p.Q224H			1	2	3	1.998139	Q8NEC7	GSTCD_HUMAN		3	892	+		Hepatocellular(203;0.217)	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	1	1	hg19	c.672G>T	CCDS43257.1	1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219458	0.22373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.0	1.14	0.20703	5.0	1.14	0.20703	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	1.077750	0.07016	N	0.825997	T	0.30070	0.0753	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.26573	-1.0099	9	0.42905	T	0.14	-7.8221	4.501	0.11863	0.2714:0.3228:0.4057:0.0	.	137;224	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	H	137;137;224;224;224	.	ENSP00000353695:Q224H	Q	+	3	2	2	GSTCD	106859911	106859911	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.497000	0.22514	0.250000	0.21479	0.557000	0.71058	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-2.974425	1	0.170000	NM_024751			67	67		354	344	1		1	1		0	0	89	0		1	8.834630e-01	0	7	0	15	0	67	354
NPNT	255743	broad.mit.edu	37	4	106858269	106858269	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468																																						ENST00000379987.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(367-369)ccG>ccA		nephronectin							171.0	140.0	150.0					4																	106858269		2203	4300	6503	SO:0001819	synonymous_variant	255743	2	121412	38				g.chr4:106858269G>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.369G>A	chr4.hg19:g.106858269G>A		0					NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000453617.2_Silent_p.P140P	p.P123P	NM_001033047.2	NP_001028219.1	1	2	3	1.998139	Q6UXI9	NPNT_HUMAN		4	585	+		Hepatocellular(203;0.217)	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	1	1	hg19	c.369G>A	CCDS34046.1	1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901179	0.17760	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-4.08	0.03963	5.05	-4.08	0.03963	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	1.5229	0.02519	0.4598:0.199:0.1508:0.1904	.	.	.	.	R	100	.	.	G	+	1	0	0	NPNT	107077718	107077718	0.005000	0.15991	0.965000	0.40720	0.970000	0.65996	-1.179000	0.03090	-0.777000	0.04572	-0.165000	0.13383	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.788588	1	0.170000	NM_198278			121	121		482	474	1		1	1		0	0	97	0		1	1	0	109	0	209	0	121	482
TBCK	93627	broad.mit.edu	37	4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313																																						ENST00000273980.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(688-690)gCt>gAt		TBC1 domain containing kinase							81.0	80.0	81.0					4																	107170109		2202	4299	6501	SO:0001583	missense	93627	0	0					g.chr4:107170109G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.689C>A	chr4.hg19:g.107170109G>T	ENSP00000273980:p.Ala230Asp	0					TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D	p.A230D			1	2	3	1.998139				9	1136	-				Missense_Mutation	SNP	ENST00000273980.5	1	1	hg19	c.689C>A	CCDS54788.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714128	0.89112	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.45	5.45	0.79879	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.19685	0.0473	L	0.46741	1.465	0.80722	D	1	P;P;P	0.50272	0.933;0.828;0.917	P;B;P	0.58266	0.836;0.394;0.747	T	0.00053	-1.2186	10	0.72032	D	0.01	.	14.8371	0.70192	0.0:0.1436:0.8564:0.0	.	230;191;167	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	D	230;230;167;191;230	ENSP00000273980:A230D;ENSP00000405847:A230D;ENSP00000355338:A167D;ENSP00000378196:A191D;ENSP00000378198:A230D	ENSP00000273980:A230D	A	-	2	0	0	TBCK	107389558	107389558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.180000	0.77674	2.547000	0.85894	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.708959	1	0.170000	NM_033115			33	32		128	124	1		1	1		0	0	63	0		1	9.998299e-01	0	17	0	39	0	33	128
AIMP1	9255	broad.mit.edu	37	4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000442366.1	+	4	420	c.368C>T	c.(367-369)gCg>gTg	p.A123V	AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000394701.4_Missense_Mutation_p.A147V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	123	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAAAGAAAGCGAAAGAGAAA	0.328																																						ENST00000442366.1	1.000000	0.430000	1	6.100000e-01	0.840000	0.821047	0.840000	1.000000																										0				11						c.(367-369)gCg>gTg		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							50.0	48.0	48.0					4																	107249377		2202	4300	6502	SO:0001583	missense	9255	3	121356	30				g.chr4:107249377C>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.368C>T	chr4.hg19:g.107249377C>T	ENSP00000405248:p.Ala123Val	0					AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000394701.4_Missense_Mutation_p.A147V	p.A123V	NM_001142415.1	NP_001135887.1	1	2	3	1.998139	Q12904	AIMP1_HUMAN		4	420	+			B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	1	1	hg19	c.368C>T	CCDS3674.1	0	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749678	0.30955	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.24723	1.99;1.84;1.84;1.84	5.07	-1.73	0.08081	5.07	-1.73	0.08081	.	1.072360	0.07135	N	0.846376	T	0.08891	0.0220	N	0.03281	-0.365	0.23056	N	0.998362	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29397	-1.0013	10	0.35671	T	0.21	-16.5534	0.4856	0.00555	0.3365:0.2794:0.1302:0.2539	.	123;123	B4DNK3;Q12904	.;AIMP1_HUMAN	V	123;123;123;123;147	ENSP00000423681:A123V;ENSP00000405248:A123V;ENSP00000350699:A123V;ENSP00000378191:A147V	ENSP00000350699:A123V	A	+	2	0	0	AIMP1	107468826	107468826	0.879000	0.30193	0.880000	0.34516	0.577000	0.36160	0.166000	0.16583	0.001000	0.14605	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-5.543283	1	0.170000	NM_004757			10	10		135	132	1		1	1		0	0	32	0		9.968886e-01	9.999974e-01	0	77	0	336	0	10	135
PAPSS1	9061	broad.mit.edu	37	4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	600					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)			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)		TTCAGGTGGTTTCTGGCCTTC	0.423																																						ENST00000265174.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1798-1800)aAa>aCa		3'-phosphoadenosine 5'-phosphosulfate synthase 1							120.0	110.0	113.0					4																	108535481		2203	4300	6503	SO:0001583	missense	9061	0	0					g.chr4:108535481T>G	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.1799A>C	chr4.hg19:g.108535481T>G	ENSP00000265174:p.Lys600Thr	0						p.K600T	NM_005443.4	NP_005434.4	1	2	3	1.998139	O43252	PAPS1_HUMAN		12	2071	-		Hepatocellular(203;0.217)	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	1	1	hg19	c.1799A>C	CCDS3676.1	1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854642	0.51376	.	.	ENSG00000138801	ENST00000265174	T	0.30714	1.52	6.16	6.16	0.99307	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.041594	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02368	-0.58	0.46609	D	0.999125	B	0.11235	0.004	B	0.20184	0.028	T	0.18023	-1.0350	10	0.22109	T	0.4	-24.0308	16.8061	0.85666	0.0:0.0:0.0:1.0	.	600	O43252	PAPS1_HUMAN	T	600	ENSP00000265174:K600T	ENSP00000265174:K600T	K	-	2	0	0	PAPSS1	108754930	108754930	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.642000	0.67888	2.367000	0.80283	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2	1	0	1		2	2	2	0		0	0	82		82	79	1	2.060000	-20.000000	1	0.170000				91	90		365	351	1		1	0		0	0	82	0		1	1	0	1	0	258	0	91	365
PAPSS1	9061	broad.mit.edu	37	4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	83					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)			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)		CCAGAGTGTAGCATGGAATAC	0.443																																						ENST00000265174.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				16						c.(247-249)tgC>tgA		3'-phosphoadenosine 5'-phosphosulfate synthase 1							116.0	104.0	108.0					4																	108615089		2203	4300	6503	SO:0001587	stop_gained	9061	0	0					g.chr4:108615089G>T	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.249C>A	chr4.hg19:g.108615089G>T	ENSP00000265174:p.Cys83*	0					PAPSS1_ENST00000511304.1_Intron	p.C83*	NM_005443.4	NP_005434.4	1	2	3	1.998139	O43252	PAPS1_HUMAN		3	521	-		Hepatocellular(203;0.217)	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Nonsense_Mutation	SNP	ENST00000265174.4	0	1	hg19	c.249C>A	CCDS3676.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.966792	0.97967	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.67	3.82	0.43975	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.2707	7.7654	0.28976	0.3465:0.0:0.6535:0.0	.	.	.	.	X	83	.	ENSP00000265174:C83X	C	-	3	2	2	PAPSS1	108834538	108834538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.722000	0.47269	0.633000	0.30452	0.556000	0.70494	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				40	40		225	223	1		1	1		0	0	46	0		1	1	0	2	0	187	0	40	225
CYP2U1	113612	broad.mit.edu	37	4	108866490	108866490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108866490G>T	ENST00000332884.6	+	2	1130	c.855G>T	c.(853-855)aaG>aaT	p.K285N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	285					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GACCATTTAAGGAATTAAGAC	0.393																																						ENST00000332884.6	1.000000	0.230000	5.800000e-01	3.200000e-01	0.430000	0.468769	0.430000	0.410000																										0				10						c.(853-855)aaG>aaT		cytochrome P450, family 2, subfamily U, polypeptide 1							70.0	72.0	71.0					4																	108866490		2203	4300	6503	SO:0001583	missense	113612	0	0					g.chr4:108866490G>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.855G>T	chr4.hg19:g.108866490G>T	ENSP00000333212:p.Lys285Asn	0					CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N|RP11-286E11.1_ENST00000513071.1_RNA	p.K285N	NM_183075.2	NP_898898.1	1	2	3	1.998139	Q7Z449	CP2U1_HUMAN		2	1130	+		Hepatocellular(203;0.217)	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	1	1	hg19	c.855G>T	CCDS34047.1	0	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240036	0.58995	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.71103	-0.54;-0.54	5.78	3.04	0.35103	5.78	3.04	0.35103	.	0.288881	0.42821	D	0.000641	T	0.57286	0.2043	L	0.41906	1.305	0.52099	D	0.999946	B	0.25719	0.132	B	0.29353	0.101	T	0.39542	-0.9609	10	0.11794	T	0.64	.	9.2284	0.37421	0.3069:0.0:0.6931:0.0	.	285	Q7Z449	CP2U1_HUMAN	N	285;242;76	ENSP00000333212:K285N;ENSP00000423667:K76N	ENSP00000333212:K285N	K	+	3	2	2	CYP2U1	109085939	109085939	1.000000	0.71417	0.437000	0.26809	0.997000	0.91878	1.111000	0.31159	0.319000	0.23209	0.563000	0.77884	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	0	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-3.258438	1	0.170000	NM_183075			13	13		359	359	0		1	0		0	0	77	0		9.995537e-01	4.120564e-01	0	0	0	38	0	13	359
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A	rs199515145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000265165.1	-	4	1103	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000379951.2_Missense_Mutation_p.A150V	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	150	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|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)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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 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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493																																						ENST00000265165.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(448-450)gCg>gTg		lymphoid enhancer-binding factor 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	122.0	110.0	114.0		449,449,245,449	5.0	0.6	4		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	64,64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/372,150/387,82/304,150/400	109010379	2,13004	2203	4300	6503	SO:0001583	missense	51176	5	121412	42				g.chr4:109010379G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.449C>T	chr4.hg19:g.109010379G>A	ENSP00000265165:p.Ala150Val	0					LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000379951.2_Missense_Mutation_p.A150V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V	p.A150V	NM_016269.4	NP_057353.1	1	2	3	1.998139	Q9UJU2	LEF1_HUMAN		4	1103	-			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	1	1	hg19	c.449C>T	CCDS3679.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276371	0.59649	0.0	2.33E-4	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99150	-5.49;-5.48;-5.49;-5.47	5.87	5.03	0.67393	5.87	5.03	0.67393	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.50333	1.59	0.52099	D	0.999948	P;D;B;D;P	0.76494	0.904;0.999;0.003;0.994;0.781	B;D;B;P;B	0.77004	0.231;0.989;0.001;0.847;0.183	D	0.99201	1.0873	10	0.20519	T	0.43	-1.1134	14.9854	0.71345	0.0681:0.0:0.9319:0.0	.	82;35;150;150;150	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	V	150;150;150;82;82;82	ENSP00000265165:A150V;ENSP00000369284:A150V;ENSP00000406176:A150V;ENSP00000422840:A82V	ENSP00000265165:A150V	A	-	2	0	0	LEF1	109229828	109229828	1.000000	0.71417	0.589000	0.28718	0.656000	0.38851	5.476000	0.66793	1.501000	0.48654	-0.229000	0.12294	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.075855	1	0.170000				63	62		297	290	1		1	0		0	0	80	0		1	1	0	0	0	127	0	63	297
RPL34	6164	broad.mit.edu	37	4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000394665.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	94					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)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GATCAAGCGTGCTTTCCTTAT	0.323																																						ENST00000394668.2	1.000000	0.690000	1	9.100000e-01	0.990000	0.964684	0.990000	1.000000																										0				4						c.(280-282)Gct>Act		ribosomal protein L34		G	THR/ALA,THR/ALA	0,4406		0,0,2203	46.0	48.0	47.0		280,280	4.6	1.0	4	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL34	NM_000995.3,NM_033625.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	94/118,94/118	109546294	1,13005	2203	4300	6503	SO:0001583	missense	6164	0	0					g.chr4:109546294G>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.280G>A	chr4.hg19:g.109546294G>A	ENSP00000378163:p.Ala94Thr	0					RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	p.A94T	NM_033625.2	NP_296374.1	1	2	3	1.998139	P49207	RL34_HUMAN		5	346	+		Hepatocellular(203;0.217)	Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	1	1	hg19	c.280G>A	CCDS3680.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025344	0.93518	0.0	1.16E-4	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.94183	3.505	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.90789	0.4685	9	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	94	P49207	RL34_HUMAN	T	94	.	ENSP00000378160:A94T	A	+	1	0	0	RPL34	109765743	109765743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.278000	0.76064	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-7.887259	1	0.170000	NM_033625, NM_000995			14	14		127	125	1		1	1		0	0	34	0		9.997849e-01	1	0	700	0	5012	0	14	127
COL25A1	84570	broad.mit.edu	37	4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 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)		TCCTGGGATTCCTGGAGATCC	0.353																																						ENST00000399132.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1408-1410)gGa>gTa		collagen, type XXV, alpha 1							124.0	111.0	115.0					4																	109769940		1832	4084	5916	SO:0001583	missense	84570	0	0					g.chr4:109769940C>A	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.1409G>T	chr4.hg19:g.109769940C>A	ENSP00000382083:p.Gly470Val	0					COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V	p.G470V	NM_198721.2	NP_942014.1	1	2	3	1.998139				27	1939	-		Hepatocellular(203;0.217)		Missense_Mutation	SNP	ENST00000399132.1	1	1	hg19	c.1409G>T	CCDS43258.1	1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172581	0.38315	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.106996	0.64402	D	0.000006	D	0.99569	0.9845	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.859;0.999	D	0.97804	1.0246	9	.	.	.	-6.4959	16.4954	0.84238	0.0:1.0:0.0:0.0	.	470;470	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	470;472;451;443;470;400	ENSP00000382083:G470V;ENSP00000382078:G443V;ENSP00000382077:G470V	.	G	-	2	0	0	COL25A1	109989389	109989389	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_032518			112	107		431	420	1		1			0	0	96	0		1	0	0	0	0	0	0	112	431
COL25A1	84570	broad.mit.edu	37	4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 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)		AACCTTTGGCCCTTGTAGTCC	0.338																																						ENST00000399132.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				49						c.(1381-1383)gGg>gAg		collagen, type XXV, alpha 1							83.0	82.0	82.0					4																	109773399		1827	4087	5914	SO:0001583	missense	84570	0	0					g.chr4:109773399C>T	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.1382G>A	chr4.hg19:g.109773399C>T	ENSP00000382083:p.Gly461Glu	0					COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E|COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E	p.G461E	NM_198721.2	NP_942014.1	1	2	3	1.998139				26	1912	-		Hepatocellular(203;0.217)		Missense_Mutation	SNP	ENST00000399132.1	1	1	hg19	c.1382G>A	CCDS43258.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406093	0.62288	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97240	3.965	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97499	1.0059	9	.	.	.	-5.6076	19.3463	0.94363	0.0:1.0:0.0:0.0	.	461;461	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	461;463;442;434;461;391	ENSP00000382083:G461E;ENSP00000382078:G434E;ENSP00000382077:G461E	.	G	-	2	0	0	COL25A1	109992848	109992848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.922000	0.70036	2.659000	0.90383	0.650000	0.86243	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.336932	1	0.170000	NM_032518			38	38		207	205	1		1	0		0	0	46	0		1	0	0	0	0	1	0	38	207
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000265175.5	+	20	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1094					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)			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)		TACAAGCACACGGCTGGATGA	0.343																																						ENST00000265175.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3280-3282)Cgg>Tgg		SEC24 family member B							110.0	104.0	106.0					4																	110452568		1877	4124	6001	SO:0001583	missense	10427	0	0					g.chr4:110452568C>T	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.3280C>T	chr4.hg19:g.110452568C>T	ENSP00000265175:p.Arg1094Trp	0					SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	p.R1094W	NM_006323.2	NP_006314.2	1	2	3	1.998139	O95487	SC24B_HUMAN		20	3335	+		Hepatocellular(203;0.217)	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	1	1	hg19	c.3280C>T	CCDS47124.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323675	0.81580	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.63	0.57726	5.48	4.63	0.57726	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.998;0.977;0.998;0.999	D	0.96419	0.9310	10	0.87932	D	0	-14.7145	14.6548	0.68825	0.0:0.9288:0.0:0.0712	.	1008;693;1124;1059;1094	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	W	1124;1059;1094	ENSP00000428564:R1124W;ENSP00000382051:R1059W;ENSP00000265175:R1094W	ENSP00000265175:R1094W	R	+	1	2	2	SEC24B	110672017	110672017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.579000	0.87056	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				67	67		315	308	1		1	1		0	0	75	0		1	1	0	41	0	137	0	67	315
PLA2G12A	81579	broad.mit.edu	37	4	110639872	110639872	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	84					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299																																						ENST00000243501.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				4						c.(250-252)ccG>ccA		phospholipase A2, group XIIA							64.0	61.0	62.0					4																	110639872		2203	4300	6503	SO:0001819	synonymous_variant	81579	0	0					g.chr4:110639872C>T		CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"""phospholipase A2, group XII"""	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.252G>A	chr4.hg19:g.110639872C>T		0					PLA2G12A_ENST00000502283.1_Silent_p.P84P|PLA2G12A_ENST00000502772.1_5'UTR	p.P84P	NM_030821.4	NP_110448.2	1	2	3	1.998139	Q9BZM1	PG12A_HUMAN		2	519	-			Q9BZ89	Silent	SNP	ENST00000243501.5	1	1	hg19	c.252G>A	CCDS3686.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.173822	1	0.170000				34	34		161	157	1		1	1		0	0	30	0		1	9.998385e-01	0	2	0	64	0	34	161
CFI	3426	broad.mit.edu	37	4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394634.2	-	13	1762	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	CFI_ENST00000394635.3_Missense_Mutation_p.D527N|CFI_ENST00000512148.1_Missense_Mutation_p.D512N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	519	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in AHUS3). {ECO:0000269|PubMed:16621965}.		complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTACAGGCATCGATGGAACCA	0.448																																						ENST00000394634.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27	GRCh37	CM062508	CFI	M	rs121964918	c.(1555-1557)Gat>Aat		complement factor I							135.0	143.0	140.0					4																	110662246		2203	4300	6503	SO:0001583	missense	3426	2	121412	38				g.chr4:110662246C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1555G>A	chr4.hg19:g.110662246C>T	ENSP00000378130:p.Asp519Asn	0					CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	p.D519N	NM_000204.3	NP_000195	1	2	3	1.998139	P05156	CFAI_HUMAN		13	1762	-		Hepatocellular(203;0.217)	O60442	Missense_Mutation	SNP	ENST00000394634.2	1	1	hg19	c.1555G>A	CCDS34049.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704595	0.88924	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94687	-3.49;-3.49;-3.49	4.65	4.65	0.58169	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.116409	0.56097	D	0.000028	D	0.97458	0.9168	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.985;0.982	D	0.98173	1.0453	10	0.72032	D	0.01	-41.0888	15.9685	0.79995	0.0:1.0:0.0:0.0	.	527;512;519	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	527;519;512	ENSP00000378131:D527N;ENSP00000378130:D519N;ENSP00000427438:D512N	ENSP00000378130:D519N	D	-	1	0	0	CFI	110881695	110881695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.890000	0.75633	2.433000	0.82419	0.644000	0.83932	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	243		243	242	1	2.060000	-3.324736	1	0.170000	NM_000204			161	157		779	767	1		1	1		0	0	243	0		1	1	0	82	0	406	0	161	779
CFI	3426	broad.mit.edu	37	4	110667516	110667516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110667516C>T	ENST00000394634.2	-	11	1498	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CFI_ENST00000394635.3_Missense_Mutation_p.A439T|CFI_ENST00000512148.1_Missense_Mutation_p.A424T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	431	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATCAAAGCGATGTCATTT	0.408																																						ENST00000394634.2	1.000000	0.130000	3.900000e-01	1.900000e-01	0.270000	0.325454	0.270000	0.260000																										0				27						c.(1291-1293)Gct>Act		complement factor I							164.0	146.0	152.0					4																	110667516		2203	4300	6503	SO:0001583	missense	3426	3	121412	40				g.chr4:110667516C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1291G>A	chr4.hg19:g.110667516C>T	ENSP00000378130:p.Ala431Thr	0					CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	p.A431T	NM_000204.3	NP_000195	1	2	3	1.998139	P05156	CFAI_HUMAN		11	1498	-		Hepatocellular(203;0.217)	O60442	Missense_Mutation	SNP	ENST00000394634.2	0	1	hg19	c.1291G>A	CCDS34049.1	0	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836600	0.71373	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.97976	-4.64;-4.64;-4.64	5.73	5.73	0.89815	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.114120	0.64402	D	0.000015	D	0.99121	0.9697	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.973;0.916;0.993	D	0.99383	1.0923	10	0.87932	D	0	-17.3083	18.1393	0.89634	0.0:1.0:0.0:0.0	.	439;424;431	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	T	439;431;424	ENSP00000378131:A439T;ENSP00000378130:A431T;ENSP00000427438:A424T	ENSP00000378130:A431T	A	-	1	0	0	CFI	110886965	110886965	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.689000	0.74562	2.716000	0.92895	0.558000	0.71614	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.021679	1	0.170000	NM_000204			10	10		439	434	0		1	1		0	0	52	0		9.967720e-01	9.993614e-01	0	50	0	546	0	10	439
LRIT3	345193	broad.mit.edu	37	4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000594814.1	+	4	1577	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	LRIT3_ENST00000327908.3_Missense_Mutation_p.D343G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	526	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478																																						ENST00000594814.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1576-1578)gAc>gGc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							136.0	125.0	129.0					4																	110791482		2203	4300	6503	SO:0001583	missense	345193	0	0					g.chr4:110791482A>G	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.1577A>G	chr4.hg19:g.110791482A>G	ENSP00000469759:p.Asp526Gly	0					LRIT3_ENST00000327908.3_Missense_Mutation_p.D343G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	p.D526G	NM_198506.3	NP_940908.3	1	2	3	1.998139	Q3SXY7	LRIT3_HUMAN		4	1577	+			C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	1	1	hg19	c.1577A>G	CCDS3688.3	1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752055	0.69533	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	5.16	5.16	0.70880	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.091310	0.85682	D	0.000000	T	0.55689	0.1936	M	0.74647	2.275	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.74674	0.937;0.984	T	0.61342	-0.7082	10	0.87932	D	0	.	15.0075	0.71524	1.0:0.0:0.0:0.0	.	481;343	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	343;481;343	ENSP00000328222:D343G;ENSP00000369252:D481G;ENSP00000386734:D343G	ENSP00000328222:D343G	D	+	2	0	0	LRIT3	111010931	111010931	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	6.948000	0.75965	1.943000	0.56356	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_198506			91	88		441	437	1		1			0	0	106	0		1	0	0	0	0	0	0	91	441
LRIT3	345193	broad.mit.edu	37	4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000594814.1	+	4	1796	c.1796T>G	c.(1795-1797)aTt>aGt	p.I599S	LRIT3_ENST00000327908.3_Missense_Mutation_p.I416S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	599					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393																																						ENST00000594814.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1795-1797)aTt>aGt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							171.0	168.0	169.0					4																	110791701		2203	4300	6503	SO:0001583	missense	345193	0	0					g.chr4:110791701T>G	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.1796T>G	chr4.hg19:g.110791701T>G	ENSP00000469759:p.Ile599Ser	0					LRIT3_ENST00000327908.3_Missense_Mutation_p.I416S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	p.I599S	NM_198506.3	NP_940908.3	1	2	3	1.998139	Q3SXY7	LRIT3_HUMAN		4	1796	+			C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	1	1	hg19	c.1796T>G	CCDS3688.3	1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793625	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.4;0.22	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.095629	0.64402	D	0.000001	T	0.71126	0.3303	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62298	0.726;0.9	T	0.74213	-0.3738	10	0.62326	D	0.03	.	15.3813	0.74658	0.0:0.0:0.0:1.0	.	554;416	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	416;554;416	ENSP00000328222:I416S;ENSP00000369252:I554S;ENSP00000386734:I416S	ENSP00000328222:I416S	I	+	2	0	0	LRIT3	111011150	111011150	1.000000	0.71417	0.973000	0.42090	0.776000	0.43924	4.782000	0.62396	2.030000	0.59900	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_198506			64	63		345	334	1		1			0	0	94	0		1	0	0	0	0	0	0	64	345
EGF	1950	broad.mit.edu	37	4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000265171.5	+	3	894	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	150					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGAAATAATTCCCACATTCTT	0.303																																						ENST00000265171.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(448-450)tCc>tTc		epidermal growth factor	Sucralfate(DB00364)						77.0	80.0	79.0					4																	110864531		2202	4299	6501	SO:0001583	missense	1950	0	0					g.chr4:110864531C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.449C>T	chr4.hg19:g.110864531C>T	ENSP00000265171:p.Ser150Phe	0					EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.S150F	p.S150F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	1	2	3	1.998139	P01133	EGF_HUMAN		3	894	+		Hepatocellular(203;0.0893)	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	1	1	hg19	c.449C>T	CCDS3689.1	1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125930	0.56721	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.36878	1.23;1.23;1.23	5.6	5.6	0.85130	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.449029	0.27797	N	0.017801	T	0.56848	0.2013	M	0.78916	2.43	0.26687	N	0.971421	D;D;D	0.71674	0.996;0.998;0.993	P;D;P	0.66716	0.885;0.946;0.885	T	0.54516	-0.8282	10	0.38643	T	0.18	.	11.1892	0.48675	0.1329:0.7219:0.1451:0.0	.	150;150;150	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	150	ENSP00000424316:S150F;ENSP00000265171:S150F;ENSP00000421384:S150F	ENSP00000265171:S150F	S	+	2	0	0	EGF	111083980	111083980	0.889000	0.30405	0.749000	0.31150	0.887000	0.51463	2.230000	0.42999	2.640000	0.89533	0.650000	0.86243	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				48	47		188	178	1		1	0		0	0	69	0		1	1.911326e-01	0	0	0	4	0	48	188
EGF	1950	broad.mit.edu	37	4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000265171.5	+	13	2427	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_ENST00000503392.1_Missense_Mutation_p.A661V|EGF_ENST00000509793.1_Missense_Mutation_p.A619V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	661					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGTGCGATGCCAAGCAGTCT	0.478																																						ENST00000265171.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1981-1983)gCc>gTc		epidermal growth factor	Sucralfate(DB00364)						142.0	123.0	129.0					4																	110897320		2203	4300	6503	SO:0001583	missense	1950	1	121408	32				g.chr4:110897320C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1982C>T	chr4.hg19:g.110897320C>T	ENSP00000265171:p.Ala661Val	0					EGF_ENST00000503392.1_Missense_Mutation_p.A661V|EGF_ENST00000509793.1_Missense_Mutation_p.A619V	p.A661V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	1	2	3	1.998139	P01133	EGF_HUMAN		13	2427	+		Hepatocellular(203;0.0893)	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	1	1	hg19	c.1982C>T	CCDS3689.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164830	0.78339	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	4.93	0.64822	5.77	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.505033	0.23461	N	0.047937	D	0.97133	0.9063	M	0.86864	2.845	0.35014	D	0.757176	P;B;P	0.49358	0.923;0.426;0.923	P;B;P	0.54174	0.744;0.36;0.676	D	0.99968	1.1898	10	0.87932	D	0	.	14.364	0.66792	0.0:0.9298:0.0:0.0702	.	661;619;661	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	619;661;661	ENSP00000424316:A619V;ENSP00000265171:A661V;ENSP00000421384:A661V	ENSP00000265171:A661V	A	+	2	0	0	EGF	111116769	111116769	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.021000	0.41020	1.440000	0.47531	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				71	70		264	259	1		1	0		0	0	60	0		1	1.182848e-01	0	1	0	2	0	71	264
ELOVL6	79071	broad.mit.edu	37	4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	195					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|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)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GATGAACATGGCAAACTTCCG	0.537																																						ENST00000394607.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(583-585)gCc>gTc		ELOVL fatty acid elongase 6							87.0	75.0	79.0					4																	110972708		2203	4300	6503	SO:0001583	missense	79071	0	0					g.chr4:110972708G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.584C>T	chr4.hg19:g.110972708G>A	ENSP00000378105:p.Ala195Val	0					ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V	p.A195V			1	2	3	1.998139	Q9H5J4	ELOV6_HUMAN		5	747	-			Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	1	1	hg19	c.584C>T	CCDS3690.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.083593	0.94050	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.24538	1.85;1.85	5.97	5.13	0.70059	5.97	5.13	0.70059	.	0.146407	0.64402	N	0.000007	T	0.58652	0.2137	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.67669	-0.5611	10	0.49607	T	0.09	-18.8957	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	195	Q9H5J4	ELOV6_HUMAN	V	195	ENSP00000378105:A195V;ENSP00000304736:A195V	ENSP00000304736:A195V	A	-	2	0	0	ELOVL6	111192157	111192157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	1.532000	0.49169	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_024090			61	60		252	246	1		1	1		0	0	74	0		1	9.827345e-01	0	9	0	20	0	61	252
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					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)			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)		CTTGCCGTGGGCTTGACCAGA	0.602																																						ENST00000265162.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(112-114)gGc>gAc		glutamyl aminopeptidase (aminopeptidase A)							197.0	182.0	187.0					4																	111397683		2203	4300	6503	SO:0001583	missense	2028	0	0					g.chr4:111397683G>A	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.113G>A	chr4.hg19:g.111397683G>A	ENSP00000265162:p.Gly38Asp	0						p.G38D	NM_001977.3	NP_001968.3	1	2	3	1.998139	Q07075	AMPE_HUMAN		1	455	+		Hepatocellular(203;0.217)	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	1	1	hg19	c.113G>A	CCDS3691.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.246617	0.95305	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20739	-1.0266	10	0.36615	T	0.2	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	D	38	ENSP00000265162:G38D	ENSP00000265162:G38D	G	+	2	0	0	ENPEP	111617132	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1		2	2	2	0		0	0	132		132	129	1	2.060000	-20.000000	1	0.170000				165	161		706	690	1		1	0		0	0	132	0		1	9.269410e-01	0	0	0	21	0	165	706
ENPEP	2028	broad.mit.edu	37	4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					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)			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)		CTAAATGAAGGATTTGCTTCT	0.368																																						ENST00000265162.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1249-1251)gGa>gAa		glutamyl aminopeptidase (aminopeptidase A)							231.0	234.0	233.0					4																	111431456		2203	4300	6503	SO:0001583	missense	2028	0	0					g.chr4:111431456G>A	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.1250G>A	chr4.hg19:g.111431456G>A	ENSP00000265162:p.Gly417Glu	0					RP11-380D23.1_ENST00000503998.1_RNA	p.G417E	NM_001977.3	NP_001968.3	1	2	3	1.998139	Q07075	AMPE_HUMAN		6	1592	+		Hepatocellular(203;0.217)	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	1	1	hg19	c.1250G>A	CCDS3691.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.098730	0.94197	.	.	ENSG00000138792	ENST00000265162	T	0.24350	1.86	5.4	5.4	0.78164	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	417	Q07075	AMPE_HUMAN	E	417	ENSP00000265162:G417E	ENSP00000265162:G417E	G	+	2	0	0	ENPEP	111650905	111650905	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.810000	0.99221	2.522000	0.85027	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000				77	74		356	350	1		1	0		0	0	100	0		1	8.044123e-01	0	0	0	16	0	77	356
ENPEP	2028	broad.mit.edu	37	4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	501					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)			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)		TTTTCAAAAAGGATGTCAGGT	0.294																																						ENST00000265162.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999331	0.990000	1.000000																										0				54						c.(1501-1503)Gga>Aga		glutamyl aminopeptidase (aminopeptidase A)							85.0	90.0	89.0					4																	111436590		2202	4296	6498	SO:0001583	missense	2028	0	0					g.chr4:111436590G>A	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.1501G>A	chr4.hg19:g.111436590G>A	ENSP00000265162:p.Gly501Arg	0					RP11-380D23.1_ENST00000503998.1_RNA	p.G501R	NM_001977.3	NP_001968.3	1	2	3	1.998139	Q07075	AMPE_HUMAN		8	1843	+		Hepatocellular(203;0.217)	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	1	1	hg19	c.1501G>A	CCDS3691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876316	0.91664	.	.	ENSG00000138792	ENST00000265162	T	0.06218	3.33	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69202	-0.5207	10	0.87932	D	0	.	19.5811	0.95468	0.0:0.0:1.0:0.0	.	501	Q07075	AMPE_HUMAN	R	501	ENSP00000265162:G501R	ENSP00000265162:G501R	G	+	1	0	0	ENPEP	111656039	111656039	1.000000	0.71417	0.966000	0.40874	0.898000	0.52572	9.452000	0.97615	2.643000	0.89663	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.845042	1	0.170000				27	27		176	176	1		1	0		0	0	77	0		1	5.406297e-01	0	0	0	13	0	27	176
TIFA	92610	broad.mit.edu	37	4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	100	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418																																						ENST00000361717.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(298-300)aGc>aAc		TRAF-interacting protein with forkhead-associated domain							45.0	43.0	43.0					4																	113199274		2203	4299	6502	SO:0001583	missense	92610	0	0					g.chr4:113199274C>T	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.299G>A	chr4.hg19:g.113199274C>T	ENSP00000354911:p.Ser100Asn	0					TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	p.S100N	NM_052864.2	NP_443096.1	1	2	3	1.998139	Q96CG3	TIFA_HUMAN		2	580	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		Missense_Mutation	SNP	ENST00000361717.3	1	1	hg19	c.299G>A	CCDS34051.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057156	0.00390	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.33216	1.42;1.42	5.79	-1.66	0.08265	5.79	-1.66	0.08265	Forkhead-associated (FHA) domain (4);	0.612544	0.19210	N	0.119945	T	0.04998	0.0134	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	10	0.02654	T	1	-3.6976	11.9285	0.52833	0.0:0.2501:0.0:0.7499	.	100	Q96CG3	TIFA_HUMAN	N	100	ENSP00000354911:S100N;ENSP00000424231:S100N	ENSP00000354911:S100N	S	-	2	0	0	TIFA	113418723	113418723	0.232000	0.23762	0.014000	0.15608	0.021000	0.10359	0.539000	0.23175	-0.544000	0.06232	-0.150000	0.13652	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_052864			43	43		209	204	1		1	1		0	0	50	0		1	9.998187e-01	0	15	0	51	0	43	209
TIFA	92610	broad.mit.edu	37	4	113199287	113199287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	96	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413																																						ENST00000361717.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(286-288)Ctg>Ttg		TRAF-interacting protein with forkhead-associated domain							45.0	44.0	44.0					4																	113199287		2203	4300	6503	SO:0001819	synonymous_variant	92610	0	0					g.chr4:113199287G>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.286C>T	chr4.hg19:g.113199287G>A		0					TIFA_ENST00000500655.2_Silent_p.L96L	p.L96L	NM_052864.2	NP_443096.1	1	2	3	1.998139	Q96CG3	TIFA_HUMAN		2	567	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		Silent	SNP	ENST00000361717.3	1	1	hg19	c.286C>T	CCDS34051.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_052864			45	45		225	221	1		1	1		0	0	51	0		1	9.999560e-01	0	15	0	63	0	45	225
ALPK1	80216	broad.mit.edu	37	4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	65							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522																																						ENST00000458497.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(193-195)Aag>Gag		alpha-kinase 1							86.0	74.0	78.0					4																	113303625		2203	4300	6503	SO:0001583	missense	80216	0	0					g.chr4:113303625A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.193A>G	chr4.hg19:g.113303625A>G	ENSP00000398048:p.Lys65Glu	0					ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	1	2	3	1.998139	Q96QP1	ALPK1_HUMAN		4	472	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	1	1	hg19	c.193A>G	CCDS3697.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406216	0.83230	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.048760	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73598	2.24	0.80722	D	1	P;D;D	0.69078	0.925;0.997;0.99	P;P;P	0.62740	0.54;0.906;0.768	T	0.54384	-0.8302	10	0.87932	D	0	-26.2083	15.839	0.78831	1.0:0.0:0.0:0.0	.	40;65;65	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	E	65;65;40	ENSP00000398048:K65E;ENSP00000177648:K65E	ENSP00000177648:K65E	K	+	1	0	0	ALPK1	113523074	113523074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.470000	0.73558	2.130000	0.65690	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_025144			48	43		220	217	1		1	1		0	0	64	0		1	9.931231e-01	0	8	0	30	0	48	220
ALPK1	80216	broad.mit.edu	37	4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R|ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	581							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502																																						ENST00000458497.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1741-1743)Agt>Cgt		alpha-kinase 1							87.0	89.0	88.0					4																	113352444		2203	4300	6503	SO:0001583	missense	80216	0	0					g.chr4:113352444A>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1741A>C	chr4.hg19:g.113352444A>C	ENSP00000398048:p.Ser581Arg	0					ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R|ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R	p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	1	2	3	1.998139	Q96QP1	ALPK1_HUMAN		11	2020	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	1	1	hg19	c.1741A>C	CCDS3697.1	1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548533	0.65311	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.19;4.19;4.11	5.34	-1.57	0.08506	5.34	-1.57	0.08506	.	0.809781	0.11477	N	0.560132	T	0.07007	0.0178	M	0.71581	2.175	0.09310	N	1	D;D;P	0.57571	0.98;0.966;0.933	P;P;P	0.54312	0.748;0.564;0.564	T	0.16660	-1.0395	10	0.87932	D	0	-1.4499	4.3225	0.11023	0.5207:0.0:0.2595:0.2198	.	503;503;581	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	581;581;503	ENSP00000398048:S581R;ENSP00000177648:S581R;ENSP00000426044:S503R	ENSP00000177648:S581R	S	+	1	0	0	ALPK1	113571893	113571893	0.034000	0.19679	0.002000	0.10522	0.863000	0.49368	0.264000	0.18497	-0.514000	0.06488	0.533000	0.62120	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_025144			63	63		313	308	1		1	1		0	0	87	0		1	9.993012e-01	0	10	0	46	0	63	313
ALPK1	80216	broad.mit.edu	37	4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E|ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498																																						ENST00000458497.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2077-2079)gGa>gAa		alpha-kinase 1							51.0	54.0	53.0					4																	113352781		2203	4300	6503	SO:0001583	missense	80216	0	0					g.chr4:113352781G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2078G>A	chr4.hg19:g.113352781G>A	ENSP00000398048:p.Gly693Glu	0					ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	1	2	3	1.998139	Q96QP1	ALPK1_HUMAN		11	2357	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	1	1	hg19	c.2078G>A	CCDS3697.1	1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792700	0.31685	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.32;4.32;4.24	4.65	-0.601	0.11638	4.65	-0.601	0.11638	.	1.614930	0.03874	N	0.276041	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24882	0.033;0.113;0.02	B;B;B	0.27170	0.067;0.077;0.018	T	0.47471	-0.9115	10	0.20046	T	0.44	0.031	4.372	0.11253	0.345:0.0:0.5098:0.1452	.	615;615;693	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	693;693;615	ENSP00000398048:G693E;ENSP00000177648:G693E;ENSP00000426044:G615E	ENSP00000177648:G693E	G	+	2	0	0	ALPK1	113572230	113572230	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.067000	0.11579	-0.212000	0.10109	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_025144			52	52		239	235	1		1	1		0	0	70	0		1	9.851690e-01	0	3	0	30	0	52	239
ALPK1	80216	broad.mit.edu	37	4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R|ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1153	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGAATACAAAGCCACAGAA	0.373																																						ENST00000458497.1	1.000000	0.230000	7.200000e-01	3.400000e-01	0.500000	0.539040	0.500000	0.460000																										0				53						c.(3457-3459)aAa>aGa		alpha-kinase 1							70.0	70.0	70.0					4																	113360948		2203	4300	6503	SO:0001583	missense	80216	0	0					g.chr4:113360948A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3458A>G	chr4.hg19:g.113360948A>G	ENSP00000398048:p.Lys1153Arg	0					ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	1	2	3	1.998139	Q96QP1	ALPK1_HUMAN		14	3737	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	1	1	hg19	c.3458A>G	CCDS3697.1	0	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457223	0.63401	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14144	2.53;2.53;2.53	5.05	3.86	0.44501	5.05	3.86	0.44501	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.376195	0.29707	N	0.011410	T	0.20373	0.0490	N	0.17674	0.51	0.25132	N	0.990568	D;D;D	0.89917	0.996;1.0;0.971	D;D;P	0.77004	0.922;0.989;0.855	T	0.04796	-1.0926	10	0.45353	T	0.12	-14.5214	10.6883	0.45856	0.924:0.0:0.076:0.0	.	1075;1075;1153	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1153;1153;1075	ENSP00000398048:K1153R;ENSP00000177648:K1153R;ENSP00000426044:K1075R	ENSP00000177648:K1153R	K	+	2	0	0	ALPK1	113580397	113580397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.589000	0.46145	0.764000	0.33197	0.445000	0.29226	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-4.125986	1	0.170000	NM_025144			8	7		193	179	0		1	1		0	0	42	0		9.860520e-01	6.143435e-01	0	3	0	46	0	8	193
ZGRF1	55345	broad.mit.edu	37	4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T	rs200748166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1451						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AGGATTTACAGTAGTAAACTT	0.289																																						ENST00000505019.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				45						c.(4351-4353)aCt>aAt									86.0	82.0	84.0					4																	113502905		2203	4296	6499	SO:0001583	missense	0	0	0					g.chr4:113502905G>T																												ENST00000505019.1:c.4352C>A	chr4.hg19:g.113502905G>T	ENSP00000424737:p.Thr1451Asn	0						p.T1451N	NM_018392.4	NP_060862.3	1	2	3	1.998139	Q86YA3	ZGRF1_HUMAN		16	4477	-		Ovarian(17;0.156)	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	1	1	hg19	c.4352C>A		1	.	.	.	.	.	.	.	.	.	.	G	6.492	0.458880	0.12342	.	.	ENSG00000138658	ENST00000505019	D	0.81821	-1.54	5.19	1.16	0.20824	5.19	1.16	0.20824	.	1.178510	0.06265	N	0.694642	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47471	-0.9115	10	0.17369	T	0.5	-3.9906	4.3025	0.10932	0.2408:0.0:0.3005:0.4587	.	1451	G5EA02	.	N	1451	ENSP00000424737:T1451N	ENSP00000404365:T349N	T	-	2	0	0	C4orf21	113722354	113722354	0.031000	0.19500	0.001000	0.08648	0.859000	0.49053	0.934000	0.28910	0.640000	0.30582	0.561000	0.74099	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				24	24		110	110	0		1			0	0	35	0		9.999999e-01	0	0	0	0	0	0	24	110
ZGRF1	55345	broad.mit.edu	37	4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		CTTTAAAATAGAAATGGTATT	0.378																																						ENST00000505019.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2479-2481)tCt>tTt									84.0	82.0	82.0					4																	113538718		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr4:113538718G>A																												ENST00000505019.1:c.2480C>T	chr4.hg19:g.113538718G>A	ENSP00000424737:p.Ser827Phe	0					C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	p.S827F	NM_018392.4	NP_060862.3	1	2	3	1.998139	Q86YA3	ZGRF1_HUMAN		6	2605	-		Ovarian(17;0.156)	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	1	1	hg19	c.2480C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856696	0.51376	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.86956	-2.19;1.34;0.91	5.98	4.2	0.49525	5.98	4.2	0.49525	.	0.378963	0.23192	N	0.050884	D	0.89220	0.6653	M	0.71581	2.175	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.56216	0.705;0.794	T	0.81936	-0.0705	10	0.87932	D	0	-0.832	6.088	0.19978	0.073:0.134:0.6544:0.1386	.	827;827	Q86YA3;G5EA02	CD021_HUMAN;.	F	827;827;796	ENSP00000424737:S827F;ENSP00000309095:S827F;ENSP00000390505:S796F	ENSP00000309095:S827F	S	-	2	0	0	C4orf21	113758167	113758167	0.074000	0.21230	0.099000	0.21106	0.962000	0.63368	1.023000	0.30065	0.798000	0.33994	0.655000	0.94253	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				50	49		240	237	1		1	0		0	0	53	0		1	2.127966e-01	0	0	0	5	0	50	240
ZGRF1	55345	broad.mit.edu	37	4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		602						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		ACAGGAAATGTCACTGTAGGT	0.353																																						ENST00000505019.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1804-1806)Aca>Gca									108.0	108.0	108.0					4																	113539394		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr4:113539394T>C																												ENST00000505019.1:c.1804A>G	chr4.hg19:g.113539394T>C	ENSP00000424737:p.Thr602Ala	0					C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	p.T602A	NM_018392.4	NP_060862.3	1	2	3	1.998139	Q86YA3	ZGRF1_HUMAN		6	1929	-		Ovarian(17;0.156)	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	1	1	hg19	c.1804A>G		1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736409	0.30774	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.55	4.65	-2.87	0.05700	4.65	-2.87	0.05700	.	1.612590	0.03166	N	0.170010	T	0.67021	0.2849	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.58918	-0.7551	10	0.02654	T	1	1.7342	6.8986	0.24271	0.0:0.163:0.5016:0.3353	.	602;602	Q86YA3;G5EA02	CD021_HUMAN;.	A	602;602;571	ENSP00000424737:T602A;ENSP00000309095:T602A;ENSP00000390505:T571A	ENSP00000309095:T602A	T	-	1	0	0	C4orf21	113758843	113758843	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-0.726000	0.04936	-0.560000	0.06102	0.455000	0.32223	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				92	91		416	407	1		1	0		0	0	104	0		1	0	0	0	0	1	0	92	416
HS3ST1	9957	broad.mit.edu	37	4	11400937	11400937	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	231					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567																																						ENST00000002596.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999853	0.990000	1.000000																										0				15						c.(691-693)gtC>gtT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							38.0	39.0	39.0					4																	11400937		2203	4300	6503	SO:0001819	synonymous_variant	9957	0	0					g.chr4:11400937G>A	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.693C>T	chr4.hg19:g.11400937G>A		0						p.V231V	NM_005114.2	NP_005105.1	1	2	3	1.998139	O14792	HS3S1_HUMAN		2	1867	-			B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	1	1	hg19	c.693C>T	CCDS3408.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_005114			31	31		188	182	1		1	1		0	0	25	0		1	9.999997e-01	0	68	0	82	0	31	188
HS3ST1	9957	broad.mit.edu	37	4	11401429	11401429	+	Silent	SNP	C	C	T	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	67					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677																																						ENST00000002596.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(199-201)acG>acA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		C		1,4405	2.1+/-5.4	0,1,2202	48.0	40.0	43.0		201	-11.0	0.8	4	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	HS3ST1	NM_005114.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		67/308	11401429	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9957	3	121244	36				g.chr4:11401429C>T	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.201G>A	chr4.hg19:g.11401429C>T		0						p.T67T	NM_005114.2	NP_005105.1	1	2	3	1.998139	O14792	HS3S1_HUMAN		2	1375	-			B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	1	1	hg19	c.201G>A	CCDS3408.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_005114			52	53		248	241	1		1	1		0	0	48	0		1	9.999845e-01	0	38	0	43	0	52	248
ANK2	287	broad.mit.edu	37	4	113970914	113970914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000264366.6_Silent_p.S10S|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	10					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438																																						ENST00000357077.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997890	0.990000	1.000000																										0				248						c.(28-30)agC>agT		ankyrin 2, neuronal							77.0	81.0	80.0					4																	113970914		2203	4300	6503	SO:0001819	synonymous_variant	287	0	0					g.chr4:113970914C>T	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.30C>T	chr4.hg19:g.113970914C>T		0					ANK2_ENST00000264366.6_Silent_p.S10S|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000506722.1_Intron	p.S10S	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		1	83	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	1	1	hg19	c.30C>T	CCDS3702.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001148			25	24		177	169	1		1			0	0	52	0		9.999998e-01	0	0	0	0	0	0	25	177
ANK2	287	broad.mit.edu	37	4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	172					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(514-516)caG>caT		ankyrin 2, neuronal							133.0	129.0	131.0					4																	114158175		2203	4300	6503	SO:0001583	missense	287	0	0					g.chr4:114158175G>T	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.516G>T	chr4.hg19:g.114158175G>T	ENSP00000349588:p.Gln172His	0					ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H	p.Q172H	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		6	569	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.516G>T	CCDS3702.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072752	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.65732	-0.17;0.6;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.57	3.79	0.43588	5.57	3.79	0.43588	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000163	T	0.66839	0.2830	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.917;0.998;0.99;0.953	T	0.69143	-0.5223	10	0.66056	D	0.02	.	10.8166	0.46580	0.2606:0.0:0.7394:0.0	.	172;172;172;151;151	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	151;151;151;187;172;172;172;151;37	ENSP00000423799:Q151H;ENSP00000421011:Q151H;ENSP00000421067:Q151H;ENSP00000424722:Q187H;ENSP00000378044:Q172H;ENSP00000349588:Q172H;ENSP00000264366:Q172H;ENSP00000421059:Q37H	ENSP00000264366:Q172H	Q	+	3	2	2	ANK2	114377624	114377624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.724000	0.47285	1.453000	0.47775	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_001148			92	90		485	477	0		1	0		0	0	131	0		1	2.491064e-01	0	0	0	6	0	92	485
ANK2	287	broad.mit.edu	37	4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000506722.1_Missense_Mutation_p.A197D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	218					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(652-654)gCt>gAt		ankyrin 2, neuronal							143.0	131.0	135.0					4																	114158312		2203	4300	6503	SO:0001583	missense	287	0	0					g.chr4:114158312C>A	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.653C>A	chr4.hg19:g.114158312C>A	ENSP00000349588:p.Ala218Asp	0					ANK2_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000506722.1_Missense_Mutation_p.A197D	p.A218D	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		6	706	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.653C>A	CCDS3702.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896285	0.91962	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71698	-0.59;-0.13;-0.38;-0.27;-0.59;-0.32;-0.32	5.57	5.57	0.84162	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	T	0.79851	0.4517	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.922;1.0;0.999;0.998	T	0.80569	-0.1324	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	218;218;218;197;197	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	D	197;197;197;233;218;218;218;197	ENSP00000423799:A197D;ENSP00000421011:A197D;ENSP00000421067:A197D;ENSP00000424722:A233D;ENSP00000378044:A218D;ENSP00000349588:A218D;ENSP00000264366:A218D	ENSP00000264366:A218D	A	+	2	0	0	ANK2	114377761	114377761	1.000000	0.71417	0.637000	0.29366	0.752000	0.42762	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	0		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_001148			105	103		535	526	1		1	0		0	0	124	0		1	4.512802e-01	0	0	0	9	0	105	535
ANK2	287	broad.mit.edu	37	4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000506722.1_Missense_Mutation_p.H217R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	238					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(712-714)cAc>cGc		ankyrin 2, neuronal							156.0	147.0	150.0					4																	114161660		2203	4300	6503	SO:0001583	missense	287	0	0					g.chr4:114161660A>G	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.713A>G	chr4.hg19:g.114161660A>G	ENSP00000349588:p.His238Arg	0					ANK2_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000506722.1_Missense_Mutation_p.H217R	p.H238R	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		8	766	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.713A>G	CCDS3702.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553975	0.86231	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71103	-0.48;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.5	5.5	0.81552	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000055	D	0.86847	0.6031	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	D	0.89512	0.3772	10	0.72032	D	0.01	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	238;238;238;217;217	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	217;217;217;253;238;238;238;217	ENSP00000423799:H217R;ENSP00000421011:H217R;ENSP00000421067:H217R;ENSP00000424722:H253R;ENSP00000378044:H238R;ENSP00000349588:H238R;ENSP00000264366:H238R	ENSP00000264366:H238R	H	+	2	0	0	ANK2	114381109	114381109	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.212000	0.71576	0.528000	0.53228	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_001148			67	67		306	301	1		1	0		0	0	76	0		1	1.523092e-01	0	0	0	4	0	67	306
ANK2	287	broad.mit.edu	37	4	114163362	114163362	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000506722.1_Silent_p.T275T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	296					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(886-888)acT>acC		ankyrin 2, neuronal							174.0	157.0	163.0					4																	114163362		2203	4300	6503	SO:0001819	synonymous_variant	287	0	0					g.chr4:114163362T>C	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.888T>C	chr4.hg19:g.114163362T>C		0					ANK2_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000506722.1_Silent_p.T275T	p.T296T	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		9	941	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	1	1	hg19	c.888T>C	CCDS3702.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_001148			48	48		203	196	1		1	0		0	0	55	0		1	3.292422e-01	0	1	0	5	0	48	203
ANK2	287	broad.mit.edu	37	4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1191	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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.R1191W(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)		ACTCACCAAGCGGATCCGCGT	0.507																																						ENST00000357077.4	1.000000	0.590000	1	7.200000e-01	0.870000	0.864871	0.870000	1.000000																										1	Substitution - Missense(1)	p.R1191W(1)	NS(1)	248						c.(3571-3573)Cgg>Tgg		ankyrin 2, neuronal							74.0	74.0	74.0					4																	114257193		2203	4300	6503	SO:0001583	missense	287	2	121412	36				g.chr4:114257193C>T	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.3571C>T	chr4.hg19:g.114257193C>T	ENSP00000349588:p.Arg1191Trp	0					ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W	p.R1191W	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		30	3624	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.3571C>T	CCDS3702.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911636|3.911636	0.72983|0.72983	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.39;-0.4;-0.83	5.27|5.27	1.04|1.04	0.20106|0.20106	5.27|5.27	1.04|1.04	0.20106|0.20106	.|.	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.969;0.994;0.969;0.982;0.998;0.967;0.975	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|.	.|.	.|.	.|.	16.0621|16.0621	0.80843|0.80843	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|367;1158;203;1191;1191;1182;1182	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	V|W	203|1104;1182;237;1206;1191;1191;1158;1182;367	.|ENSP00000421011:R1104W;ENSP00000421067:R1182W;ENSP00000424722:R1206W;ENSP00000378044:R1191W;ENSP00000349588:R1191W;ENSP00000264366:R1158W;ENSP00000426944:R367W	.|.	A|R	+|+	2|1	0|2	0|2	ANK2|ANK2	114476642|114476642	114476642|114476642	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.448000|0.448000	0.21726|0.21726	0.559000|0.559000	0.29153|0.29153	0.655000|0.655000	0.94253|0.94253	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-8.435488	1	0.170000	NM_001148			28	28		356	353	0		1	0		0	0	58	0		1	1.992776e-01	0	0	0	11	0	28	356
ANK2	287	broad.mit.edu	37	4	114264287	114264287	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000506722.1_Silent_p.L1404L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1413	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(4237-4239)Cta>Tta		ankyrin 2, neuronal							114.0	112.0	113.0					4																	114264287		2203	4300	6503	SO:0001819	synonymous_variant	287	0	0					g.chr4:114264287C>T	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.4237C>T	chr4.hg19:g.114264287C>T		0					ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000510275.2_Silent_p.L65L	p.L1413L	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		34	4290	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	1	1	hg19	c.4237C>T	CCDS3702.1	1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685802	0.14973	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.5	4.66	0.58398	5.5	4.66	0.58398	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.0002	0.36077	0.0:0.7784:0.0:0.2216	.	.	.	.	F	425	.	.	S	+	2	0	0	ANK2	114483736	114483736	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.770000	0.47662	1.321000	0.45227	-0.143000	0.13931	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-2.980187	1	0.170000	NM_001148			50	49		229	229	1		1	0		0	0	52	0		1	7.779301e-01	0	0	0	15	0	50	229
ANK2	287	broad.mit.edu	37	4	114279143	114279143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3123					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448																																						ENST00000357077.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				248						c.(9367-9369)tcC>tcT		ankyrin 2, neuronal							51.0	55.0	54.0					4																	114279143		2197	4300	6497	SO:0001819	synonymous_variant	287	0	0					g.chr4:114279143C>T	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.9369C>T	chr4.hg19:g.114279143C>T		0					ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.S3123S	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		38	9422	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	1	1	hg19	c.9369C>T	CCDS3702.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.411435	1	0.170000	NM_001148			47	43		218	213	1		1	0		0	0	46	0		1	0	0	0	0	1	0	47	218
ANK2	287	broad.mit.edu	37	4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3583	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463																																						ENST00000357077.4	1.000000	0.540000	1	7.900000e-01	0.990000	0.928187	0.990000	1.000000																										0				248						c.(10747-10749)agC>agA		ankyrin 2, neuronal							118.0	104.0	109.0					4																	114282046		2203	4300	6503	SO:0001583	missense	287	0	0					g.chr4:114282046C>A	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.10749C>A	chr4.hg19:g.114282046C>A	ENSP00000349588:p.Ser3583Arg	0					ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R	p.S3583R	NM_001148.4	NP_001139.3	1	2	3	1.998139	Q01484	ANK2_HUMAN		39	10802	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.10749C>A	CCDS3702.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560749|3.560749	0.65538|0.65538	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.52|5.52	4.56|4.56	0.56223|0.56223	5.52|5.52	4.56|4.56	0.56223|0.56223	.|.	.|0.173471	.|0.40385	.|N	.|0.001109	D|D	0.91331|0.91331	0.7266|0.7266	M|M	0.77313|0.77313	2.365|2.365	0.39653|0.39653	D|D	0.970495|0.970495	.|D;D;D;D;D;D	.|0.89917	.|0.985;0.999;0.985;0.995;1.0;0.975	.|D;D;D;D;D;P	.|0.91635	.|0.914;0.988;0.936;0.975;0.999;0.837	D|D	0.92053|0.92053	0.5650|0.5650	5|10	.|0.62326	.|D	.|0.03	.|.	12.2485|12.2485	0.54585|0.54585	0.0:0.8502:0.0:0.1498|0.0:0.8502:0.0:0.1498	.|.	.|674;533;499;1498;3583;1489	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|R	500;151|1489;533;1498;3583;3550;1489;674;150;593	.|ENSP00000421067:S1489R;ENSP00000378044:S1498R;ENSP00000349588:S3583R;ENSP00000264366:S3550R;ENSP00000426944:S674R;ENSP00000421023:S150R;ENSP00000422498:S593R	.|ENSP00000264366:S3550R	L|S	+|+	1|3	2|2	2|2	ANK2|ANK2	114501495|114501495	114501495|114501495	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.604000|0.604000	0.24164|0.24164	2.603000|2.603000	0.88011|0.88011	0.557000|0.557000	0.71058|0.71058	CTG|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	0		12	2	2	0		0	1	24		24	24	1	2.060000	-13.502920	1	0.170000	NM_001148			8	8		78	78	0		0	0		0	0	24	0		2.297448e-01	3.836812e-01	0	0	0	13	0	8	78
CAMK2D	817	broad.mit.edu	37	4	114430832	114430832	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000342666.5	-	13	946		c.e13-1		CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						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)			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)		CTCTTGGCTGCTGTAAAATGA	0.393																																						ENST00000342666.5	1.000000	0.730000	1	9.100000e-01	0.990000	0.967307	0.990000	1.000000																										0				13						c.e13-1		calcium/calmodulin-dependent protein kinase II delta							111.0	106.0	107.0					4																	114430832		2203	4300	6503	SO:0001630	splice_region_variant	817	0	0					g.chr4:114430832C>A	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.947-1G>T	chr4.hg19:g.114430832C>A		0					CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site				1	2	3	1.998139	Q13557	KCC2D_HUMAN		13	946	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Splice_Site	SNP	ENST00000342666.5	1	1	hg19		CCDS3703.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027771	0.75390	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000513132;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CAMK2D	114650281	114650281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.102000	0.64572	2.882000	0.98803	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000		Intron		22	22		211	207	0		1	0		0	0	31	0		9.999989e-01	5.166355e-02	0	0	0	4	0	22	211
NDST4	64579	broad.mit.edu	37	4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	629	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCCTCAAATGTCTTTGGACT	0.308																																						ENST00000264363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1885-1887)aCa>aGa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							146.0	141.0	143.0					4																	115769425		2203	4300	6503	SO:0001583	missense	64579	0	0					g.chr4:115769425G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1886C>G	chr4.hg19:g.115769425G>C	ENSP00000264363:p.Thr629Arg	0						p.T629R	NM_022569.1	NP_072091.1	1	2	3	1.998139	Q9H3R1	NDST4_HUMAN		9	2564	-		Ovarian(17;0.156)	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	1	1	hg19	c.1886C>G	CCDS3706.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416859	0.83449	.	.	ENSG00000138653	ENST00000264363	D	0.82344	-1.6	5.71	5.71	0.89125	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	629	Q9H3R1	NDST4_HUMAN	R	629	ENSP00000264363:T629R	ENSP00000264363:T629R	T	-	2	0	0	NDST4	115988874	115988874	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_022569			81	79		290	285	1		1			0	0	66	0		1	0	0	0	0	0	0	81	290
SPON2	10417	broad.mit.edu	37	4	1165096	1165096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	133	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791																																						ENST00000290902.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				9						c.(397-399)acC>acT		spondin 2, extracellular matrix protein							5.0	6.0	6.0					4																	1165096		1766	3620	5386	SO:0001819	synonymous_variant	10417	0	0					g.chr4:1165096G>A	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.399C>T	chr4.hg19:g.1165096G>A		0					SPON2_ENST00000431380.1_Silent_p.T133T	p.T133T	NM_012445.3	NP_036577	1	2	3	1.998139	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	3	731	-			D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	1	1	hg19	c.399C>T	CCDS3347.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.791	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000				20	20		67	65	0		1	0		0	0	22	0		9.999977e-01	9.999996e-01	0	0	0	100	0	20	67
NDST4	64579	broad.mit.edu	37	4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	510	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTGGGTTTAGAAGGATTGTG	0.323																																						ENST00000264363.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1528-1530)Cta>Ata		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							177.0	180.0	179.0					4																	115856370		2203	4300	6503	SO:0001583	missense	64579	0	0					g.chr4:115856370G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1528C>A	chr4.hg19:g.115856370G>T	ENSP00000264363:p.Leu510Ile	0						p.L510I	NM_022569.1	NP_072091.1	1	2	3	1.998139	Q9H3R1	NDST4_HUMAN		6	2206	-		Ovarian(17;0.156)	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	1	1	hg19	c.1528C>A	CCDS3706.1	1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000138653	ENST00000264363	T	0.38560	1.13	5.12	4.27	0.50696	5.12	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.75777	2.31	0.53688	D	0.999978	P	0.38420	0.63	B	0.40602	0.334	T	0.49688	-0.8913	10	0.46703	T	0.11	.	13.4805	0.61332	0.076:0.0:0.924:0.0	.	510	Q9H3R1	NDST4_HUMAN	I	510	ENSP00000264363:L510I	ENSP00000264363:L510I	L	-	1	2	2	NDST4	116075819	116075819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	1.128000	0.42052	0.591000	0.81541	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_022569			66	66		232	228	1		1			0	0	69	0		1	0	0	0	0	0	0	66	232
TRAM1L1	133022	broad.mit.edu	37	4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	131	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378																																						ENST00000310754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(391-393)tTt>tGt		translocation associated membrane protein 1-like 1							76.0	72.0	73.0					4																	118006158		2203	4300	6503	SO:0001583	missense	133022	0	0					g.chr4:118006158A>C	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.392T>G	chr4.hg19:g.118006158A>C	ENSP00000309402:p.Phe131Cys	0						p.F131C	NM_152402.2	NP_689615.2	1	2	3	1.998139	Q8N609	TR1L1_HUMAN		1	578	-			Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	1	1	hg19	c.392T>G	CCDS3707.1	1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285381	0.23478	.	.	ENSG00000174599	ENST00000310754	D	0.86366	-2.11	4.29	3.1	0.35709	4.29	3.1	0.35709	TRAM/LAG1/CLN8 homology domain (3);	0.153083	0.64402	D	0.000015	D	0.87418	0.6172	L	0.36672	1.1	0.37683	D	0.923555	D	0.58620	0.983	D	0.63793	0.918	D	0.87434	0.2390	10	0.56958	D	0.05	-27.7925	8.2484	0.31702	0.9029:0.0:0.0971:0.0	.	131	Q8N609	TR1L1_HUMAN	C	131	ENSP00000309402:F131C	ENSP00000309402:F131C	F	-	2	0	0	TRAM1L1	118225606	118225606	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	6.273000	0.72581	0.970000	0.38263	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_152402			71	71		309	304	1		1	0		0	0	71	0		1	4.611523e-01	0	0	0	8	0	71	309
NDST3	9348	broad.mit.edu	37	4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358																																						ENST00000296499.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(589-591)cCt>cTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							111.0	113.0	112.0					4																	118975655		2203	4299	6502	SO:0001583	missense	9348	0	0					g.chr4:118975655C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.590C>T	chr4.hg19:g.118975655C>T	ENSP00000296499:p.Pro197Leu	0					NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	p.P197L	NM_004784.2	NP_004775.1	1	2	3	1.998139	O95803	NDST3_HUMAN		2	993	+			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	1	1	hg19	c.590C>T	CCDS3708.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958808	0.53400	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48836	1.16;0.8	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.052125	0.85682	D	0.000000	T	0.66674	0.2813	M	0.76574	2.34	0.80722	D	1	P;P;D	0.56746	0.863;0.788;0.977	P;P;P	0.58928	0.681;0.848;0.647	T	0.71902	-0.4452	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	197;197;197	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	197	ENSP00000296499:P197L;ENSP00000396625:P197L	ENSP00000296499:P197L	P	+	2	0	0	NDST3	119195103	119195103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.346000	0.79739	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.233212	1	0.170000	NM_004784			114	113		557	550	1		1			0	0	122	0		1	0	0	0	0	0	0	114	557
NDST3	9348	broad.mit.edu	37	4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	551	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418																																						ENST00000296499.5	1.000000	0.970000	1	9.900000e-01	0.990000	0.998071	0.990000	1.000000																										0				54						c.(1651-1653)aCt>aTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							97.0	97.0	97.0					4																	119145758		2203	4299	6502	SO:0001583	missense	9348	0	0					g.chr4:119145758C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1652C>T	chr4.hg19:g.119145758C>T	ENSP00000296499:p.Thr551Ile	0					NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	p.T551I	NM_004784.2	NP_004775.1	1	2	3	1.998139	O95803	NDST3_HUMAN		7	2055	+			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	1	1	hg19	c.1652C>T	CCDS3708.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032221	0.93575	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.11;0.85	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.83692	2.655	0.46823	D	0.999214	D;D	0.89917	0.986;1.0	P;D	0.76575	0.835;0.988	T	0.76085	-0.3088	10	0.66056	D	0.02	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	470;551	B4DI67;O95803	.;NDST3_HUMAN	I	551;470	ENSP00000296499:T551I;ENSP00000396625:T470I	ENSP00000296499:T551I	T	+	2	0	0	NDST3	119365206	119365206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.694000	0.84235	2.635000	0.89317	0.650000	0.86243	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_004784			47	46		382	371	1		1			0	0	75	0		1	0	0	0	0	0	0	47	382
PRSS12	8492	broad.mit.edu	37	4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	835	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G835R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547																																						ENST00000296498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G835R(1)	large_intestine(1)	29						c.(2503-2505)Gga>Aga		protease, serine, 12 (neurotrypsin, motopsin)		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	80.0	82.0	81.0		2503	6.2	0.0	4	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS12	NM_003619.3	125	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	835/876	119203216	2,13004	2203	4300	6503	SO:0001583	missense	8492	50	121412	47				g.chr4:119203216C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2503G>A	chr4.hg19:g.119203216C>T	ENSP00000296498:p.Gly835Arg	0					SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	p.G835R	NM_003619.3	NP_003610.2	1	2	3	1.998139	P56730	NETR_HUMAN		13	2785	-			Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	1	1	hg19	c.2503G>A	CCDS3709.1	1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594280	0.66219	2.27E-4	1.16E-4	ENSG00000164099	ENST00000296498	D	0.93366	-3.21	6.17	6.17	0.99709	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.394294	0.30338	N	0.009857	D	0.93943	0.8061	L	0.28556	0.865	0.37830	D	0.92869	D	0.89917	1.0	D	0.71656	0.974	D	0.94576	0.7775	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	835	P56730	NETR_HUMAN	R	835	ENSP00000296498:G835R	ENSP00000296498:G835R	G	-	1	0	0	PRSS12	119422664	119422664	0.997000	0.39634	0.034000	0.17996	0.379000	0.30106	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1		16	4	2	1		1	1	99		99	99	1	2.060000	-2.995722	1	0.170000				80	79		372	361	1		1	1		1	0	99	0		1	9.969999e-01	0	17	0	47	0	80	372
PRSS12	8492	broad.mit.edu	37	4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	785	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433																																						ENST00000296498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2353-2355)Gcc>Tcc		protease, serine, 12 (neurotrypsin, motopsin)							133.0	129.0	130.0					4																	119203366		2203	4300	6503	SO:0001583	missense	8492	0	0					g.chr4:119203366C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2353G>T	chr4.hg19:g.119203366C>A	ENSP00000296498:p.Ala785Ser	0					SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	p.A785S	NM_003619.3	NP_003610.2	1	2	3	1.998139	P56730	NETR_HUMAN		13	2635	-			Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	1	1	hg19	c.2353G>T	CCDS3709.1	1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361803	0.24684	.	.	ENSG00000164099	ENST00000296498	D	0.88277	-2.36	6.08	5.24	0.73138	6.08	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254753	0.44902	D	0.000414	T	0.69940	0.3167	N	0.01515	-0.825	0.35163	D	0.770848	P	0.36354	0.549	B	0.33295	0.161	T	0.76022	-0.3111	10	0.06757	T	0.87	.	15.609	0.76699	0.0:0.9342:0.0:0.0658	.	785	P56730	NETR_HUMAN	S	785	ENSP00000296498:A785S	ENSP00000296498:A785S	A	-	1	0	0	PRSS12	119422814	119422814	0.936000	0.31750	1.000000	0.80357	0.991000	0.79684	1.336000	0.33850	1.586000	0.49944	0.591000	0.81541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				84	82		409	401	1		1	1		0	0	86	0		1	9.989779e-01	0	29	0	23	0	84	409
PRSS12	8492	broad.mit.edu	37	4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	481	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547																																						ENST00000296498.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				29						c.(1441-1443)gTt>gCt		protease, serine, 12 (neurotrypsin, motopsin)							99.0	80.0	87.0					4																	119234403		2203	4300	6503	SO:0001583	missense	8492	0	0					g.chr4:119234403A>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1442T>C	chr4.hg19:g.119234403A>G	ENSP00000296498:p.Val481Ala	0						p.V481A	NM_003619.3	NP_003610.2	1	2	3	1.998139	P56730	NETR_HUMAN		7	1724	-			Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	1	1	hg19	c.1442T>C	CCDS3709.1	1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389899	0.25118	.	.	ENSG00000164099	ENST00000296498	T	0.32272	1.46	5.92	4.75	0.60458	5.92	4.75	0.60458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.164162	0.53938	N	0.000056	T	0.31638	0.0803	N	0.17872	0.535	0.44424	D	0.997348	D	0.53462	0.96	P	0.57152	0.814	T	0.03374	-1.1043	10	0.22109	T	0.4	.	11.9127	0.52747	0.9322:0.0:0.0678:0.0	.	481	P56730	NETR_HUMAN	A	481	ENSP00000296498:V481A	ENSP00000296498:V481A	V	-	2	0	0	PRSS12	119453851	119453851	0.994000	0.37717	0.205000	0.23548	0.554000	0.35429	6.231000	0.72307	1.061000	0.40601	0.528000	0.53228	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				38	37		213	209	1		1	1		0	0	41	0		1	9.979822e-01	0	12	0	44	0	38	213
PRSS12	8492	broad.mit.edu	37	4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T	rs199814947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	281	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17751	0.001		0.0	False		,,,				2504	0.0					ENST00000296498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(841-843)cGc>cAc		protease, serine, 12 (neurotrypsin, motopsin)							75.0	69.0	71.0					4																	119253000		2203	4300	6503	SO:0001583	missense	8492	1	121412	29				g.chr4:119253000C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.842G>A	chr4.hg19:g.119253000C>T	ENSP00000296498:p.Arg281His	0						p.R281H	NM_003619.3	NP_003610.2	1	2	3	1.998139	P56730	NETR_HUMAN		4	1124	-			Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	1	1	hg19	c.842G>A	CCDS3709.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.21	3.574041	0.65765	.	.	ENSG00000164099	ENST00000296498	T	0.53857	0.6	6.04	5.19	0.71726	6.04	5.19	0.71726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	H	0.98883	4.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90794	0.4689	10	0.87932	D	0	.	15.8315	0.78757	0.0:0.8652:0.1348:0.0	.	281	P56730	NETR_HUMAN	H	281	ENSP00000296498:R281H	ENSP00000296498:R281H	R	-	2	0	0	PRSS12	119472448	119472448	1.000000	0.71417	0.734000	0.30879	0.017000	0.09413	7.118000	0.77137	1.557000	0.49525	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000				51	51		262	257	1		1	1		0	0	74	0		1	9.940338e-01	0	27	0	16	0	51	262
SEC24D	9871	broad.mit.edu	37	4	119736284	119736284	+	Missense_Mutation	SNP	C	C	T	rs73842254	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119736284C>T	ENST00000280551.6	-	6	938	c.700G>A	c.(700-702)Gca>Aca	p.A234T	SEC24D_ENST00000379735.5_Missense_Mutation_p.A235T|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	234	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GACAGTTGTGCGCCTGCCATC	0.512													C|||	19	0.00379393	0.0144	0.0	5008	,	,		17607	0.0		0.0	False		,,,				2504	0.0					ENST00000280551.6	1.000000	0.810000	1	9.700000e-01	0.990000	0.982656	0.990000	1.000000																										0				37						c.(700-702)Gca>Aca		SEC24 family member D		C	THR/ALA	48,4358	50.2+/-85.5	0,48,2155	58.0	60.0	59.0		700	-0.7	0.0	4	dbSNP_130	59	0,8600		0,0,4300	yes	missense	SEC24D	NM_014822.2	58	0,48,6455	TT,TC,CC		0.0,1.0894,0.3691	benign	234/1033	119736284	48,12958	2203	4300	6503	SO:0001583	missense	9871	147	121412	52				g.chr4:119736284C>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.700G>A	chr4.hg19:g.119736284C>T	ENSP00000280551:p.Ala234Thr	0					SEC24D_ENST00000379735.5_Missense_Mutation_p.A235T|SEC24D_ENST00000419654.2_5'UTR	p.A234T			1	2	3	1.998139	O94855	SC24D_HUMAN		6	938	-			Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	1	0	hg19	c.700G>A	CCDS3710.1	1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	3.583	-0.085222	0.07097	0.010894	0.0	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.77229	2.01;-1.08	5.55	-0.69	0.11309	5.55	-0.69	0.11309	.	0.583975	0.19166	N	0.121062	T	0.41511	0.1162	L	0.40543	1.245	0.23314	N	0.99793	B;B	0.31459	0.269;0.324	B;B	0.23852	0.049;0.049	T	0.33085	-0.9882	10	0.17369	T	0.5	-0.9193	3.6618	0.08241	0.1253:0.3664:0.3657:0.1426	.	235;234	O94855-2;O94855	.;SC24D_HUMAN	T	234;235	ENSP00000280551:A234T;ENSP00000369059:A235T	ENSP00000280551:A234T	A	-	1	0	0	SEC24D	119955732	119955732	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.474000	0.06607	-0.546000	0.06216	-1.289000	0.01358	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-8.957620	1	0.170000				31	31		286	281	1		1	1		0	0	69	0		1	9.999998e-01	0	13	0	217	0	31	286
SYNPO2	171024	broad.mit.edu	37	4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433																																						ENST00000307142.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3613-3615)aAt>aGt		synaptopodin 2							89.0	84.0	86.0					4																	119978917		2203	4300	6503	SO:0001583	missense	171024	0	0					g.chr4:119978917A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3614A>G	chr4.hg19:g.119978917A>G	ENSP00000306015:p.Asn1205Ser	0					SYNPO2_ENST00000448416.2_3'UTR	p.N1205S	NM_133477.2	NP_597734.2	1	2	3	1.998139	Q9UMS6	SYNP2_HUMAN		5	3810	+			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	1	1	hg19	c.3614A>G	CCDS34054.1	1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.961529	0.00465	.	.	ENSG00000172403	ENST00000307142	T	0.06687	3.27	5.76	-7.26	0.01466	5.76	-7.26	0.01466	.	1.365610	0.05007	N	0.470170	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	.	.	.	-1.0E-4	13.3281	0.60471	0.2603:0.0:0.6428:0.0969	.	1205;1205	B9EG60;Q9UMS6-2	.;.	S	1205	ENSP00000306015:N1205S	.	N	+	2	0	0	SYNPO2	120198365	120198365	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	-1.144000	0.02862	-0.256000	0.11100	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000				90	87		399	390	1		1	0		0	0	114	0		1	6.298298e-01	0	0	0	11	0	90	399
MYOZ2	51778	broad.mit.edu	37	4	120072119	120072119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398																																						ENST00000307128.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(169-171)Cta>Tta		myozenin 2							138.0	129.0	132.0					4																	120072119		2203	4300	6503	SO:0001819	synonymous_variant	51778	0	0					g.chr4:120072119C>T	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.169C>T	chr4.hg19:g.120072119C>T		0						p.L57L	NM_016599.4	NP_057683.1	1	2	3	1.998139				3	382	+				Silent	SNP	ENST00000307128.5	1	1	hg19	c.169C>T	CCDS3711.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000				79	78		343	336	1		1	0		0	0	95	0		1	0	0	0	0	1	0	79	343
MYOZ2	51778	broad.mit.edu	37	4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408																																						ENST00000307128.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(253-255)aTt>aGt		myozenin 2							117.0	115.0	116.0					4																	120079184		2203	4300	6503	SO:0001583	missense	51778	0	0					g.chr4:120079184T>G	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.254T>G	chr4.hg19:g.120079184T>G	ENSP00000306997:p.Ile85Ser	0						p.I85S	NM_016599.4	NP_057683.1	1	2	3	1.998139				4	467	+				Missense_Mutation	SNP	ENST00000307128.5	1	1	hg19	c.254T>G	CCDS3711.1	1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150916	0.06585	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.7	4.45	0.53987	5.7	4.45	0.53987	.	1.093690	0.06764	N	0.782303	T	0.45836	0.1362	L	0.34521	1.04	0.09310	N	1	P	0.35872	0.525	B	0.31101	0.124	T	0.29912	-0.9996	10	0.09590	T	0.72	-2.3569	7.3584	0.26731	0.171:0.0:0.1213:0.7076	.	85	Q9NPC6	MYOZ2_HUMAN	S	85	ENSP00000306997:I85S	ENSP00000306997:I85S	I	+	2	0	0	MYOZ2	120298632	120298632	0.062000	0.20869	0.710000	0.30468	0.918000	0.54935	2.156000	0.42310	2.163000	0.67991	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000				85	83		412	406	1		1	0		0	0	113	0		1	1.405906e-01	0	0	0	4	0	85	412
MYOZ2	51778	broad.mit.edu	37	4	120085546	120085546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120085546A>G	ENST00000307128.5	+	5	770	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAGCTTTAACAGGTAATTC	0.398																																						ENST00000307128.5	1.000000	0.130000	5.000000e-01	2.100000e-01	0.330000	0.377877	0.330000	0.300000																										0				16						c.(556-558)aAc>aGc		myozenin 2							51.0	51.0	51.0					4																	120085546		2201	4300	6501	SO:0001583	missense	51778	0	0					g.chr4:120085546A>G	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.557A>G	chr4.hg19:g.120085546A>G	ENSP00000306997:p.Asn186Ser	0						p.N186S	NM_016599.4	NP_057683.1	1	2	3	1.998139				5	770	+				Missense_Mutation	SNP	ENST00000307128.5	0	1	hg19	c.557A>G	CCDS3711.1	0	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595357	0.86953	.	.	ENSG00000172399	ENST00000307128	T	0.80480	-1.38	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92076	0.5668	10	0.87932	D	0	-26.911	16.4277	0.83824	1.0:0.0:0.0:0.0	.	186	Q9NPC6	MYOZ2_HUMAN	S	186	ENSP00000306997:N186S	ENSP00000306997:N186S	N	+	2	0	0	MYOZ2	120304994	120304994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.781000	0.91805	2.279000	0.76181	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-7.843953	1	0.170000				6	6		230	221	0		1	0		0	0	53	0		9.611392e-01	2.879646e-03	0	0	0	3	0	6	230
USP53	54532	broad.mit.edu	37	4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	rs141895329	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000274030.6	+	9	1676	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000450251.1_Missense_Mutation_p.R166H	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											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						TGTGTGTGTCGTAGCTGTGGA	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		17824	0.002		0.001	False		,,,				2504	0.0					ENST00000274030.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(496-498)cGt>cAt		ubiquitin specific peptidase 53		G	HIS/ARG	1,3779		0,1,1889	168.0	160.0	163.0		497	4.8	1.0	4	dbSNP_134	163	0,8244		0,0,4122	yes	missense	USP53	NM_019050.2	29	0,1,6011	AA,AG,GG		0.0,0.0265,0.0083	probably-damaging	166/1074	120177606	1,12023	1890	4122	6012	SO:0001583	missense	54532	25	120828	46				g.chr4:120177606G>A	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.497G>A	chr4.hg19:g.120177606G>A	ENSP00000274030:p.Arg166His	0					USP53_ENST00000450251.1_Missense_Mutation_p.R166H	p.R166H	NM_019050.2	NP_061923.2	1	2	3	1.998139				9	1676	+				Missense_Mutation	SNP	ENST00000274030.6	1	1	hg19	c.497G>A	CCDS43265.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.82	3.705380	0.68615	2.65E-4	0.0	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.31510	1.49;1.49	5.6	4.76	0.60689	5.6	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.156127	0.64402	N	0.000016	T	0.40372	0.1114	L	0.31065	0.9	0.36361	D	0.860725	D	0.89917	1.0	D	0.79784	0.993	T	0.49113	-0.8973	10	0.52906	T	0.07	-11.342	9.8648	0.41136	0.0731:0.1396:0.7873:0.0	.	166	Q70EK8	UBP53_HUMAN	H	166	ENSP00000274030:R166H;ENSP00000409906:R166H	ENSP00000274030:R166H	R	+	2	0	0	USP53	120397054	120397054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	1.354000	0.45846	0.563000	0.77884	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.318794	1	0.170000	XM_052597			90	88		388	380	1		1	1		0	0	92	0		1	9.999313e-01	0	13	0	49	0	90	388
USP53	54532	broad.mit.edu	37	4	120190845	120190845	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000274030.6	+	15	2467		c.e15-1		USP53_ENST00000450251.1_Splice_Site	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											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						TTCTTTTACAGCTAAGTTAAG	0.259																																						ENST00000274030.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.e15-1		ubiquitin specific peptidase 53							59.0	60.0	60.0					4																	120190845		1796	4054	5850	SO:0001630	splice_region_variant	54532	0	0					g.chr4:120190845G>A	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.1289-1G>A	chr4.hg19:g.120190845G>A		0					USP53_ENST00000450251.1_Splice_Site		NM_019050.2	NP_061923.2	1	2	3	1.998139				15	2467	+				Splice_Site	SNP	ENST00000274030.6	1	1	hg19		CCDS43265.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816201	0.70912	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5008	0.87731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	USP53	120410293	120410293	1.000000	0.71417	0.716000	0.30569	0.937000	0.57800	7.366000	0.79548	2.567000	0.86603	0.561000	0.74099	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.259	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	XM_052597	Intron		58	58		241	236	1		1	0		0	0	81	0		1	0	0	0	0	1	0	58	241
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	rs182361575	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					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.R577W(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)	GTAAACATCCGAATTGTACAC	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0					ENST00000354960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R577W(1)	large_intestine(1)	27						c.(1729-1731)Cgg>Tgg		phosphodiesterase 5A, cGMP-specific	Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)						126.0	118.0	121.0					4																	120446754		2203	4300	6503	SO:0001583	missense	8654	5	121412	38				g.chr4:120446754G>A	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.1729C>T	chr4.hg19:g.120446754G>A	ENSP00000347046:p.Arg577Trp	0					PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA	p.R577W	NM_001083.3	NP_001074.2	1	2	3	1.998139	O76074	PDE5A_HUMAN		12	2048	-			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	1	1	hg19	c.1729C>T	CCDS3713.1	1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	2	PDE5A	120666202	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_001083			56	54		281	277	1		1	1		0	0	84	0		1	9.999939e-01	0	20	0	71	0	56	281
PDE5A	8654	broad.mit.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T	rs200355800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	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)			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)	AGAAACTGTTCGTCATTTCGG	0.438																																						ENST00000354960.3	1.000000	0.510000	1	6.300000e-01	0.790000	0.798463	0.790000	1.000000																										0				27						c.(1465-1467)Gaa>Aaa		phosphodiesterase 5A, cGMP-specific	Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)						137.0	129.0	131.0					4																	120463721		2203	4300	6503	SO:0001583	missense	8654	10	121412	41				g.chr4:120463721C>T	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.1465G>A	chr4.hg19:g.120463721C>T	ENSP00000347046:p.Glu489Lys	0					PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA	p.E489K	NM_001083.3	NP_001074.2	1	2	3	1.998139	O76074	PDE5A_HUMAN		10	1784	-			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	1	1	hg19	c.1465G>A	CCDS3713.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	0	PDE5A	120683169	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1		2	2	2	0		0	0	80		80	77	1	2.060000	-3.221817	1	0.170000	NM_001083			22	20		313	304	1		1	1		0	0	80	0		9.999984e-01	9.253137e-01	0	7	0	58	0	22	313
PDE5A	8654	broad.mit.edu	37	4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	412	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)			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)	ACATACTGAGCATACATGTAA	0.343																																						ENST00000354960.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1234-1236)Gct>Act		phosphodiesterase 5A, cGMP-specific	Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)						224.0	217.0	219.0					4																	120474867		2203	4300	6503	SO:0001583	missense	8654	0	0					g.chr4:120474867C>T	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.1234G>A	chr4.hg19:g.120474867C>T	ENSP00000347046:p.Ala412Thr	0					PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|RP11-33B1.1_ENST00000498873.1_RNA	p.A412T	NM_001083.3	NP_001074.2	1	2	3	1.998139	O76074	PDE5A_HUMAN		8	1553	-			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	1	1	hg19	c.1234G>A	CCDS3713.1	1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610356	0.66558	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68331	-0.32;-0.32;-0.32	5.82	5.82	0.92795	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56340	1.77	0.80722	D	1	B;B	0.26708	0.011;0.157	B;B	0.27380	0.077;0.079	T	0.60677	-0.7216	10	0.36615	T	0.2	.	19.707	0.96076	0.0:1.0:0.0:0.0	.	412;370	O76074;O76074-2	PDE5A_HUMAN;.	T	412;360;370	ENSP00000347046:A412T;ENSP00000377957:A360T;ENSP00000264805:A370T	ENSP00000264805:A370T	A	-	1	0	0	PDE5A	120694315	120694315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.751000	0.94390	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_001083			67	65		301	294	1		1	1		0	0	79	0		1	9.999592e-01	0	19	0	50	0	67	301
MAD2L1	4085	broad.mit.edu	37	4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	150	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363																																						ENST00000296509.6	1.000000	0.440000	1	6.200000e-01	0.860000	0.827915	0.860000	1.000000																										0				9						c.(448-450)tCa>tTa		MAD2 mitotic arrest deficient-like 1 (yeast)							47.0	44.0	45.0					4																	120981442		2203	4300	6503	SO:0001583	missense	4085	0	0					g.chr4:120981442G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.449C>T	chr4.hg19:g.120981442G>A	ENSP00000296509:p.Ser150Leu	0						p.S150L	NM_002358.3	NP_002349.1	1	2	3	1.998139	Q13257	MD2L1_HUMAN		5	788	-			Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	0	1	hg19	c.449C>T	CCDS3715.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821885	0.90873	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.304482	0.34002	N	0.004354	T	0.75436	0.3849	M	0.77486	2.375	0.58432	D	0.999999	B	0.32800	0.385	B	0.42062	0.374	T	0.77373	-0.2612	9	0.59425	D	0.04	-4.4885	18.9343	0.92579	0.0:0.0:1.0:0.0	.	150	Q13257	MD2L1_HUMAN	L	150	.	ENSP00000296509:S150L	S	-	2	0	0	MAD2L1	121200890	121200890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-14.480360	1	0.170000				10	10		133	131	0		1	1		0	0	25	0		9.970008e-01	7.808696e-01	0	4	0	36	0	10	133
PRDM5	11107	broad.mit.edu	37	4	121702388	121702388	+	Silent	SNP	G	G	A	rs374433951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702388G>A	ENST00000264808.3	-	12	1593	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	PRDM5_ENST00000515109.1_Silent_p.V420V|PRDM5_ENST00000428209.2_Silent_p.V420V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	451					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)			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						GAACCACCTGGACATGAACAT	0.388																																						ENST00000264808.3	1.000000	0.150000	4.800000e-01	2.200000e-01	0.320000	0.373214	0.320000	0.300000																										0				34						c.(1351-1353)gtC>gtT		PR domain containing 5		G		1,4405	2.1+/-5.4	0,1,2202	164.0	133.0	144.0		1353	2.2	1.0	4		144	0,8600		0,0,4300	no	coding-synonymous	PRDM5	NM_018699.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		451/631	121702388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11107	4	121386	38				g.chr4:121702388G>A	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.1353C>T	chr4.hg19:g.121702388G>A		0					PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	p.V451V	NM_018699.2	NP_061169.2	1	2	3	1.998139	Q9NQX1	PRDM5_HUMAN		12	1593	-			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	0	1	hg19	c.1353C>T	CCDS3716.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	0	0	0		2	2	2	0		0	0	63		63	61	1	2.060000	-8.439358	1	0.170000				8	8		302	300	0		1	0		0	0	63	0		9.893314e-01	2.700236e-03	0	0	0	3	0	8	302
PRDM5	11107	broad.mit.edu	37	4	121702402	121702402	+	Silent	SNP	A	A	G	rs193201534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000515109.1_Silent_p.L416L|PRDM5_ENST00000428209.2_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	447					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)			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						TGAACATTTAATGTATCCTTC	0.398																																						ENST00000264808.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				34						c.(1339-1341)Tta>Cta		PR domain containing 5							148.0	119.0	129.0					4																	121702402		2203	4300	6503	SO:0001819	synonymous_variant	11107	0	0					g.chr4:121702402A>G	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.1339T>C	chr4.hg19:g.121702402A>G		0					PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	p.L447L	NM_018699.2	NP_061169.2	1	2	3	1.998139	Q9NQX1	PRDM5_HUMAN		12	1579	-			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	1	1	hg19	c.1339T>C	CCDS3716.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000				45	45		254	252	0		1	0		0	0	60	0		1	1.702558e-01	0	0	0	5	0	45	254
PRDM5	11107	broad.mit.edu	37	4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					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)			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						GAATTTCTTCCCACAGTTCTT	0.373																																						ENST00000264808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(613-615)gGg>gAg		PR domain containing 5							93.0	88.0	89.0					4																	121739544		2203	4300	6503	SO:0001583	missense	11107	0	0					g.chr4:121739544C>T	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.614G>A	chr4.hg19:g.121739544C>T	ENSP00000264808:p.Gly205Glu	0					PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	p.G205E	NM_018699.2	NP_061169.2	1	2	3	1.998139	Q9NQX1	PRDM5_HUMAN		5	854	-			Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	1	1	hg19	c.614G>A	CCDS3716.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876634	0.91664	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.59224	0.28;0.28;0.28	5.32	5.32	0.75619	5.32	5.32	0.75619	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	0.70185	0.3195	L	0.39467	1.215	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	T	0.70952	-0.4732	10	0.52906	T	0.07	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	E	205	ENSP00000264808:G205E;ENSP00000422309:G205E;ENSP00000404832:G205E	ENSP00000264808:G205E	G	-	2	0	0	PRDM5	121958994	121958994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.562000	0.60816	2.498000	0.84270	0.555000	0.69702	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.099918	1	0.170000				46	44		190	182	1		1	0		0	0	40	0		1	2.584446e-01	0	0	0	5	0	46	190
PRDM5	11107	broad.mit.edu	37	4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			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						GTTGGAGTGCCGTGGGTTGGT	0.443																																						ENST00000264808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(229-231)cGg>cAg		PR domain containing 5							297.0	292.0	293.0					4																	121774643		2203	4300	6503	SO:0001583	missense	11107	1	121412	38				g.chr4:121774643C>T	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.230G>A	chr4.hg19:g.121774643C>T	ENSP00000264808:p.Arg77Gln	0					PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q	p.R77Q	NM_018699.2	NP_061169.2	1	2	3	1.998139	Q9NQX1	PRDM5_HUMAN		3	470	-			Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	1	1	hg19	c.230G>A	CCDS3716.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.096555	0.94197	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.809;0.999	D;D;B;D	0.77557	0.978;0.99;0.252;0.978	T	0.67019	-0.5776	10	0.15499	T	0.54	-4.7371	19.011	0.92872	0.0:1.0:0.0:0.0	.	77;77;77;77	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	Q	77	ENSP00000264808:R77Q;ENSP00000422309:R77Q;ENSP00000404832:R77Q;ENSP00000377955:R77Q	ENSP00000264808:R77Q	R	-	2	0	0	PRDM5	121994093	121994093	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	5.315000	0.65810	2.857000	0.98124	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	1		2	2	2	0		0	0	352		352	350	1	2.060000	-3.147623	1	0.170000				294	286		1361	1341	1		1	0		0	0	352	0		1	7.005800e-01	0	0	0	13	0	294	1361
TNIP3	79931	broad.mit.edu	37	4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A	rs374033583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000509841.1	-	8	752	c.674C>T	c.(673-675)gCg>gTg	p.A225V	TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V|TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343																																						ENST00000509841.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(673-675)gCg>gTg		TNFAIP3 interacting protein 3		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	166.0	153.0	157.0		443,443	-5.2	0.0	4		157	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	TNIP3	NM_001128843.2,NM_024873.5	64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	148/326,148/326	122075755	2,13002	2203	4299	6502	SO:0001583	missense	79931	4	121406	38				g.chr4:122075755G>A	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.674C>T	chr4.hg19:g.122075755G>A	ENSP00000426613:p.Ala225Val	0					TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V|TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V	p.A225V	NM_001244764.1	NP_001231693.1	1	2	3	1.998139				8	752	-				Missense_Mutation	SNP	ENST00000509841.1	1	1	hg19	c.674C>T	CCDS58926.1	1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.516059	0.00151	0.0	2.33E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.71	-5.17	0.02849	4.71	-5.17	0.02849	.	1.828580	0.02425	N	0.082965	T	0.28632	0.0709	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18999	-1.0319	10	0.13108	T	0.6	0.2705	6.6311	0.22857	0.5605:0.0:0.2377:0.2018	.	218;148;148	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	148;148;218;225	ENSP00000057513:A148V;ENSP00000411817:A148V;ENSP00000427106:A218V;ENSP00000426613:A225V	ENSP00000057513:A148V	A	-	2	0	0	TNIP3	122295205	122295205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.129000	0.10515	-1.090000	0.03069	-2.455000	0.00206	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.088324	1	0.170000	NM_024873			55	55		291	282	1		1	0		0	0	48	0		1	1.250458e-01	0	0	0	4	0	55	291
TNIP3	79931	broad.mit.edu	37	4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000509841.1	-	7	646	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P|TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647																																						ENST00000509841.1	1.000000	0.380000	5.700000e-01	4.300000e-01	0.490000	0.523643	0.490000	0.490000																										0				24						c.(568-570)Acc>Ccc		TNFAIP3 interacting protein 3							116.0	134.0	128.0					4																	122078275		2203	4300	6503	SO:0001583	missense	79931	0	0					g.chr4:122078275T>G	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.568A>C	chr4.hg19:g.122078275T>G	ENSP00000426613:p.Thr190Pro	0					TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P|TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P	p.T190P	NM_001244764.1	NP_001231693.1	1	2	3	1.998139				7	646	-				Missense_Mutation	SNP	ENST00000509841.1	1	1	hg19	c.568A>C	CCDS58926.1	0	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698387	0.48307	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.79	-7.58	0.01313	3.79	-7.58	0.01313	.	2.342090	0.01568	N	0.020440	T	0.59390	0.2190	L	0.60455	1.87	0.09310	N	1	B;B;P	0.43094	0.001;0.002;0.799	B;B;P	0.44990	0.002;0.003;0.466	T	0.64343	-0.6430	10	0.72032	D	0.01	10.3068	7.1203	0.25440	0.0:0.3636:0.4254:0.211	.	183;113;113	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	P	113;113;183;190	ENSP00000057513:T113P;ENSP00000411817:T113P;ENSP00000427106:T183P;ENSP00000426613:T190P	ENSP00000057513:T113P	T	-	1	0	0	TNIP3	122297725	122297725	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.672000	0.05244	-1.505000	0.01807	0.397000	0.26171	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	0	0	1		23	2	2	1		1	1	246		246	241	1	2.060000	-5.766448	1	0.170000	NM_024873			70	69		1619	1604	0		1	0		1	0	246	0		9.999998e-01	6.382121e-02	0	0	0	10	0	70	1619
TNIP3	79931	broad.mit.edu	37	4	122085277	122085277	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122085277C>A	ENST00000509841.1	-	4	313	c.235G>T	c.(235-237)Gca>Tca	p.A79S	TNIP3_ENST00000454328.1_Missense_Mutation_p.A2S|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAAAATGTGCCATGGAAGCT	0.388																																						ENST00000509841.1	1.000000	0.120000	3.900000e-01	1.800000e-01	0.260000	0.313775	0.260000	0.250000																										0				24						c.(235-237)Gca>Tca		TNFAIP3 interacting protein 3							110.0	104.0	106.0					4																	122085277		2203	4300	6503	SO:0001583	missense	79931	0	0					g.chr4:122085277C>A	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.235G>T	chr4.hg19:g.122085277C>A	ENSP00000426613:p.Ala79Ser	0					TNIP3_ENST00000454328.1_Missense_Mutation_p.A2S|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S	p.A79S	NM_001244764.1	NP_001231693.1	1	2	3	1.998139				4	313	-				Missense_Mutation	SNP	ENST00000509841.1	0	1	hg19	c.235G>T	CCDS58926.1	0	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590273	0.66105	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.59364	0.77;0.77;0.28;0.27	4.5	2.71	0.32032	4.5	2.71	0.32032	.	0.176081	0.27567	N	0.018781	T	0.51109	0.1655	L	0.57536	1.79	0.09310	N	1	P;P;P	0.46784	0.793;0.884;0.884	B;B;B	0.42738	0.272;0.396;0.256	T	0.49437	-0.8940	10	0.87932	D	0	-4.2012	6.5541	0.22450	0.0:0.7133:0.1842:0.1025	.	72;2;2	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	S	2;2;72;79	ENSP00000057513:A2S;ENSP00000411817:A2S;ENSP00000427106:A72S;ENSP00000426613:A79S	ENSP00000057513:A2S	A	-	1	0	0	TNIP3	122304727	122304727	0.003000	0.15002	0.088000	0.20740	0.334000	0.28698	0.274000	0.18680	0.564000	0.29238	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.645408	1	0.170000	NM_024873			8	8		375	372	0		1	0		0	0	75	0		9.892014e-01	6.024822e-04	0	0	0	2	0	8	375
EXOSC9	5393	broad.mit.edu	37	4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000243498.5	+	8	868	c.760G>A	c.(760-762)Gct>Act	p.A254T	EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Missense_Mutation_p.A238T	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|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)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308																																						ENST00000243498.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(760-762)Gct>Act		exosome component 9							50.0	53.0	52.0					4																	122732759		2203	4297	6500	SO:0001583	missense	5393	1	121398	35				g.chr4:122732759G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.760G>A	chr4.hg19:g.122732759G>A	ENSP00000243498:p.Ala254Thr	0					EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000512454.1_Missense_Mutation_p.A238T	p.A254T	NM_005033.2	NP_005024.2	1	2	3	1.998139	Q06265	EXOS9_HUMAN		8	868	+			Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	1	1	hg19	c.760G>A	CCDS3722.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463947|4.463947	0.84425|0.84425	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	5.82|5.82	5.82|5.82	0.92795|0.92795	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.046429|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56746|.	0.939;0.977;0.955|.	B;B;P|.	0.45406|.	0.25;0.35;0.479|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.56958|.	D|.	0.05|.	-30.9715|-30.9715	11.4169|11.4169	0.49958|0.49958	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	238;254;254|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	T|H	254;254;208;238|89	ENSP00000243498:A254T;ENSP00000368984:A254T;ENSP00000422205:A208T;ENSP00000425782:A238T|.	ENSP00000243498:A254T|.	A|R	+|+	1|2	0|0	0|0	EXOSC9|EXOSC9	122952209|122952209	122952209|122952209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.056000|6.056000	0.71111|0.71111	2.747000|2.747000	0.94245|0.94245	0.655000|0.655000	0.94253|0.94253	GCT|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-18.771410	1	0.170000	NM_005033			26	26		93	90	1		1	1		0	0	25	0		1	1	0	35	0	120	0	26	93
CCNA2	890	broad.mit.edu	37	4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	293					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378																																						ENST00000274026.5	1.000000	0.670000	1	7.800000e-01	0.920000	0.904809	0.920000	1.000000																										0				12						c.(877-879)aGa>aAa		cyclin A2							123.0	127.0	126.0					4																	122740651		2203	4300	6503	SO:0001583	missense	890	0	0					g.chr4:122740651C>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.878G>A	chr4.hg19:g.122740651C>T	ENSP00000274026:p.Arg293Lys	0						p.R293K	NM_001237.3	NP_001228	1	2	3	1.998139	P20248	CCNA2_HUMAN		5	1181	-			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	1	1	hg19	c.878G>A	CCDS3723.1	1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782183	0.70222	.	.	ENSG00000145386	ENST00000274026	T	0.18338	2.22	6.04	6.04	0.98038	6.04	6.04	0.98038	Cyclin, N-terminal (1);Cyclin-like (3);	0.045186	0.85682	D	0.000000	T	0.12008	0.0292	N	0.25060	0.705	0.48901	D	0.999726	B	0.16396	0.017	B	0.23852	0.049	T	0.12863	-1.0531	10	0.08837	T	0.75	.	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	293	P20248	CCNA2_HUMAN	K	293	ENSP00000274026:R293K	ENSP00000274026:R293K	R	-	2	0	0	CCNA2	122960101	122960101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.873000	0.98535	0.561000	0.74099	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-10.385520	1	0.170000	NM_001237			40	40		477	472	1		1	1		0	0	104	0		1	9.287234e-01	0	10	0	45	0	40	477
CCNA2	890	broad.mit.edu	37	4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	98					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418																																						ENST00000274026.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(292-294)gCg>gTg		cyclin A2							116.0	113.0	114.0					4																	122743722		2203	4300	6503	SO:0001583	missense	890	1	121412	34				g.chr4:122743722G>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.293C>T	chr4.hg19:g.122743722G>A	ENSP00000274026:p.Ala98Val	0						p.A98V	NM_001237.3	NP_001228	1	2	3	1.998139	P20248	CCNA2_HUMAN		2	596	-			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	1	1	hg19	c.293C>T	CCDS3723.1	1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819230	0.71028	.	.	ENSG00000145386	ENST00000274026	T	0.16743	2.32	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.254375	0.15847	U	0.241726	T	0.18425	0.0442	L	0.49350	1.555	0.37440	D	0.914368	B	0.31752	0.338	B	0.19666	0.026	T	0.09707	-1.0662	10	0.27785	T	0.31	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	98	P20248	CCNA2_HUMAN	V	98	ENSP00000274026:A98V	ENSP00000274026:A98V	A	-	2	0	0	CCNA2	122963172	122963172	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.921000	0.63397	2.715000	0.92844	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	0	0	0		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_001237			103	103		433	422	1		1	1		0	0	125	0		1	9.978544e-01	0	17	0	24	0	103	433
CCNA2	890	broad.mit.edu	37	4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	79					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413																																						ENST00000274026.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(235-237)cCt>cAt		cyclin A2							92.0	90.0	90.0					4																	122743779		2203	4300	6503	SO:0001583	missense	890	0	0					g.chr4:122743779G>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.236C>A	chr4.hg19:g.122743779G>T	ENSP00000274026:p.Pro79His	0						p.P79H	NM_001237.3	NP_001228	1	2	3	1.998139	P20248	CCNA2_HUMAN		2	539	-			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	1	1	hg19	c.236C>A	CCDS3723.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048425	0.55110	.	.	ENSG00000145386	ENST00000274026	T	0.15256	2.44	5.74	3.97	0.46021	5.74	3.97	0.46021	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.25614	N	0.986468	B	0.22800	0.075	B	0.21151	0.033	T	0.13737	-1.0498	9	0.59425	D	0.04	.	8.5659	0.33538	0.0798:0.2876:0.6326:0.0	.	79	P20248	CCNA2_HUMAN	H	79	ENSP00000274026:P79H	ENSP00000274026:P79H	P	-	2	0	0	CCNA2	122963229	122963229	0.862000	0.29867	0.990000	0.47175	0.996000	0.88848	1.584000	0.36589	1.392000	0.46585	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	1	0	0		2	2	2	0		0	0	118		118	116	1	2.060000	-2.909672	1	0.170000	NM_001237			87	86		396	388	1		1	1		0	0	118	0		1	9.994078e-01	0	15	0	37	0	87	396
BBS7	55212	broad.mit.edu	37	4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	88					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)			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						TCTAATCTCAGATGCTGCAGC	0.428									Bardet-Biedl syndrome																													ENST00000264499.4	1.000000	0.490000	1	6.300000e-01	0.790000	0.799066	0.790000	1.000000																										0				30						c.(262-264)tCt>tAt		Bardet-Biedl syndrome 7							92.0	92.0	92.0					4																	122782737		2203	4300	6503	SO:0001583	missense	55212	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr4:122782737G>T	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.263C>A	chr4.hg19:g.122782737G>T	ENSP00000264499:p.Ser88Tyr	0					BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	p.S88Y	NM_176824.2	NP_789794.1	1	2	3	1.998139	Q8IWZ6	BBS7_HUMAN		4	446	-			Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	1	1	hg19	c.263C>A	CCDS3724.1	0	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741916	0.89573	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92099	-2.97;-2.97	5.47	5.47	0.80525	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.80722	D	1	D;D	0.62365	0.991;0.98	P;P	0.59643	0.861;0.861	D	0.95737	0.8780	10	0.72032	D	0.01	-14.2789	19.328	0.94270	0.0:0.0:1.0:0.0	.	88;88	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	Y	88	ENSP00000264499:S88Y;ENSP00000423626:S88Y	ENSP00000264499:S88Y	S	-	2	0	0	BBS7	123002187	123002187	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.443000	0.97568	2.559000	0.86315	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.999190	1	0.170000				19	19		270	266	0		1	1		0	0	56	0		9.999909e-01	8.034693e-01	0	3	0	42	0	19	270
KIAA1109	84162	broad.mit.edu	37	4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	rs72925924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron			Q2LD37	K1109_HUMAN	KIAA1109	640					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)				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						ATGGCGCAACGTTACTCAGGA	0.463													G|||	12	0.00239617	0.0091	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000264501.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(1918-1920)Gtt>Att		KIAA1109		G	ILE/VAL	16,3870		0,16,1927	72.0	67.0	68.0		1918	-1.4	0.6	4	dbSNP_130	68	0,8284		0,0,4142	yes	missense	KIAA1109	NM_015312.3	29	0,16,6069	AA,AG,GG		0.0,0.4117,0.1315	benign	640/5006	123130479	16,12154	1943	4142	6085	SO:0001583	missense	84162	67	120866	48				g.chr4:123130479G>A	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.1918G>A	chr4.hg19:g.123130479G>A	ENSP00000264501:p.Val640Ile	0					KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I	p.V640I			1	2	3	1.998139	Q2LD37	K1109_HUMAN		18	2291	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	1	1	hg19	c.1918G>A	CCDS43267.1	1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.753|1.753	-0.488817|-0.488817	0.04352|0.04352	0.004117|0.004117	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.21543	.|2.58;2.58;2.0	4.55|4.55	-1.37|-1.37	0.09056|0.09056	4.55|4.55	-1.37|-1.37	0.09056|0.09056	.|.	.|0.432718	.|0.14967	.|N	.|0.288041	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.03324|0.03324	-0.35|-0.35	0.27008|0.27008	N|N	0.964746|0.964746	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.02654	.|T	.|1	.|.	6.2867|6.2867	0.21037|0.21037	0.44:0.1455:0.4145:0.0|0.44:0.1455:0.4145:0.0	.|.	.|640;640	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|I	472|640	.|ENSP00000264501:V640I;ENSP00000373390:V640I;ENSP00000389925:V640I	.|ENSP00000264501:V640I	R|V	+|+	2|1	0|0	0|0	KIAA1109|KIAA1109	123349929|123349929	123349929|123349929	0.997000|0.997000	0.39634|0.39634	0.623000|0.623000	0.29173|0.29173	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	-0.330000|-0.330000	0.08514|0.08514	-0.459000|-0.459000	0.05422|0.05422	CGT|GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.184078	1	0.170000	NM_020797			39	37		168	160	1		1	0		0	0	30	0		1	8.539078e-01	0	0	0	17	0	39	168
KIAA1109	84162	broad.mit.edu	37	4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109	3673					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)				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						ACAGAACTGGACCTTTTGTCA	0.318																																						ENST00000264501.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.984654	0.990000	1.000000																										0				172						c.(11017-11019)gAc>gGc		KIAA1109							54.0	51.0	52.0					4																	123249281		1835	4079	5914	SO:0001583	missense	84162	0	0					g.chr4:123249281A>G	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.11018A>G	chr4.hg19:g.123249281A>G	ENSP00000264501:p.Asp3673Gly	0					KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G	p.D3673G			1	2	3	1.998139	Q2LD37	K1109_HUMAN		66	11391	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	1	1	hg19	c.11018A>G	CCDS43267.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.321035|4.321035	0.81580|0.81580	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.39592|.	2.2;2.2;1.07|.	5.57|5.57	4.37|4.37	0.52481|0.52481	5.57|5.57	4.37|4.37	0.52481|0.52481	.|.	0.066944|.	0.64402|.	N|.	0.000017|.	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13594|.	0.008;0.007|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.31617|.	T|.	0.26|.	.|.	11.7505|11.7505	0.51845|0.51845	0.9296:0.0:0.0704:0.0|0.9296:0.0:0.0704:0.0	.|.	3672;3673|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|A	3673;3673;377|84	ENSP00000264501:D3673G;ENSP00000373390:D3673G;ENSP00000410874:D377G|.	ENSP00000264501:D3673G|.	D|T	+|+	2|1	0|0	0|0	KIAA1109|KIAA1109	123468731|123468731	123468731|123468731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.404000|7.404000	0.79996|0.79996	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	GAC|ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	0	1		16	7	2	1		1	1	34		34	34	1	2.060000	-9.476609	1	0.170000	NM_020797			19	19		159	157	1		1	0		1	0	34	0		7.448878e-01	3.784161e-01	0	2	0	51	0	19	159
KIAA1109	84162	broad.mit.edu	37	4	123258035	123258035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						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)				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						ATTTTAAACAGCTGTCAGCTC	0.323																																						ENST00000264501.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.e71-1		KIAA1109							120.0	103.0	108.0					4																	123258035		1828	4081	5909	SO:0001630	splice_region_variant	84162	0	0					g.chr4:123258035G>A	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.12011-1G>A	chr4.hg19:g.123258035G>A		0					KIAA1109_ENST00000388738.3_Splice_Site				1	2	3	1.998139	Q2LD37	K1109_HUMAN		71	12383	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Splice_Site	SNP	ENST00000264501.4	1	1	hg19		CCDS43267.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741598	0.69304	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000306802	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4524	0.61178	0.0754:0.0:0.9246:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	KIAA1109	123477485	123477485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.411000	0.80078	2.530000	0.85305	0.467000	0.42956	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_020797	Intron		55	55		219	215	1		1			0	0	46	0		1	0	0	0	0	0	0	55	219
KIAA1109	84162	broad.mit.edu	37	4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109	4020					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)				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						ATACCAGATCCTATGGAAGAA	0.358																																						ENST00000264501.4	1.000000	0.760000	1	9.100000e-01	0.990000	0.967558	0.990000	1.000000																										0				172						c.(12058-12060)cCt>cAt		KIAA1109							216.0	185.0	195.0					4																	123258084		1876	4111	5987	SO:0001583	missense	84162	0	0					g.chr4:123258084C>A	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.12059C>A	chr4.hg19:g.123258084C>A	ENSP00000264501:p.Pro4020His	0					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H	p.P4020H			1	2	3	1.998139	Q2LD37	K1109_HUMAN		71	12432	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	1	1	hg19	c.12059C>A	CCDS43267.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601491|2.601491	0.46423|0.46423	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.52;2.52;1.51	5.39|5.39	5.39|5.39	0.77823|0.77823	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.222299	.|0.39020	.|N	.|0.001488	T|T	0.37320|0.37320	0.0999|0.0999	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.813	.|P;P	.|0.51615	.|0.675;0.476	T|T	0.02232|0.02232	-1.1191|-1.1191	5|10	.|0.27785	.|T	.|0.31	.|.	15.538|15.538	0.76018|0.76018	0.1385:0.8615:0.0:0.0|0.1385:0.8615:0.0:0.0	.|.	.|4019;4020	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|H	396|4020;4020;689	.|ENSP00000264501:P4020H;ENSP00000373390:P4020H;ENSP00000410874:P689H	.|ENSP00000264501:P4020H	L|P	+|+	1|2	2|0	2|0	KIAA1109|KIAA1109	123477534|123477534	123477534|123477534	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.864000|3.864000	0.56024|0.56024	2.530000|2.530000	0.85305|0.85305	0.467000|0.467000	0.42956|0.42956	CTA|CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-2.841672	1	0.170000	NM_020797			32	31		320	305	0		1	1		0	0	69	0		1	9.873292e-01	0	6	0	65	0	32	320
KIAA1109	84162	broad.mit.edu	37	4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109	4627					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)				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						CGACACTGGCCTGGAGTATTG	0.433																																						ENST00000264501.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(13879-13881)cCt>cTt		KIAA1109							159.0	153.0	155.0					4																	123274089		2001	4184	6185	SO:0001583	missense	84162	0	0					g.chr4:123274089C>T	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.13880C>T	chr4.hg19:g.123274089C>T	ENSP00000264501:p.Pro4627Leu	0					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L	p.P4627L			1	2	3	1.998139	Q2LD37	K1109_HUMAN		81	14253	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	1	1	hg19	c.13880C>T	CCDS43267.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610370	0.87258	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.43294	0.95;0.95;0.95	5.98	5.98	0.97165	5.98	5.98	0.97165	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54957	-0.8215	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4626;4627	Q2LD37-4;Q2LD37	.;K1109_HUMAN	L	4627;4627;1296;228	ENSP00000264501:P4627L;ENSP00000373390:P4627L;ENSP00000410874:P1296L	ENSP00000264501:P4627L	P	+	2	0	0	KIAA1109	123493539	123493539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-3.440474	1	0.170000	NM_020797			95	89		413	404	1		1	1		0	0	117	0		1	1	0	23	0	89	0	95	413
KIAA1109	84162	broad.mit.edu	37	4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109	4855					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)				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						CCACATTTGTGTGACTATGGA	0.358																																						ENST00000264501.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(14563-14565)Gtg>Atg		KIAA1109							160.0	154.0	156.0					4																	123277838		1909	4124	6033	SO:0001583	missense	84162	0	0					g.chr4:123277838G>A	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.14563G>A	chr4.hg19:g.123277838G>A	ENSP00000264501:p.Val4855Met	0					KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M	p.V4855M			1	2	3	1.998139	Q2LD37	K1109_HUMAN		84	14936	+			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	1	1	hg19	c.14563G>A	CCDS43267.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.379860	0.95945	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.57436	0.4;0.4;0.4	5.9	5.9	0.94986	5.9	5.9	0.94986	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	4854;4855	Q2LD37-4;Q2LD37	.;K1109_HUMAN	M	4855;4855;1524;456	ENSP00000264501:V4855M;ENSP00000373390:V4855M;ENSP00000410874:V1524M	ENSP00000264501:V4855M	V	+	1	0	0	KIAA1109	123497288	123497288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.800000	0.96347	0.655000	0.94253	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_020797			66	66		328	323	1		1	1		0	0	92	0		1	9.999624e-01	0	5	0	71	0	66	328
ADAD1	132612	broad.mit.edu	37	4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000296513.2	+	4	475	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	97	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368																																						ENST00000296513.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(289-291)cCt>cTt		adenosine deaminase domain containing 1 (testis-specific)							92.0	101.0	98.0					4																	123302264		2203	4300	6503	SO:0001583	missense	132612	0	0					g.chr4:123302264C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.290C>T	chr4.hg19:g.123302264C>T	ENSP00000296513:p.Pro97Leu	0					ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L	p.P97L	NM_139243.3	NP_640336.1	1	2	3	1.998139	Q96M93	ADAD1_HUMAN		4	475	+			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	1	1	hg19	c.290C>T	CCDS34058.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278034	0.80692	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.23	4.37	0.52481	5.23	4.37	0.52481	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058440	0.64402	D	0.000001	D	0.88897	0.6562	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	D	0.90180	0.4242	10	0.87932	D	0	-17.469	13.1832	0.59666	0.0:0.9193:0.0:0.0807	.	97;97	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	97;97;97;97;79	ENSP00000390510:P97L;ENSP00000296513:P97L;ENSP00000397254:P97L;ENSP00000373376:P97L;ENSP00000373377:P79L	ENSP00000296513:P97L	P	+	2	0	0	ADAD1	123521714	123521714	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.958000	0.76025	2.423000	0.82170	0.563000	0.77884	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-2.923146	1	0.170000	NM_139243			82	82		444	439	1		1			0	0	115	0		1	0	0	0	0	0	0	82	444
ADAD1	132612	broad.mit.edu	37	4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000296513.2	+	12	1780	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V|ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	532	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACTTGAAGCTGGTACATAT	0.338																																						ENST00000296513.2	1.000000	0.540000	1	7.100000e-01	0.930000	0.882106	0.930000	1.000000																										0				35						c.(1594-1596)gCt>gTt		adenosine deaminase domain containing 1 (testis-specific)							73.0	71.0	72.0					4																	123342523		2203	4300	6503	SO:0001583	missense	132612	0	0					g.chr4:123342523C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1595C>T	chr4.hg19:g.123342523C>T	ENSP00000296513:p.Ala532Val	0					ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V|ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V	p.A532V	NM_139243.3	NP_640336.1	1	2	3	1.998139	Q96M93	ADAD1_HUMAN		12	1780	+			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	0	1	hg19	c.1595C>T	CCDS34058.1	1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338793	0.05243	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	4.93	3.15	0.36227	4.93	3.15	0.36227	Adenosine deaminase/editase (3);	0.353444	0.30859	N	0.008732	D	0.84620	0.5512	N	0.25485	0.75	0.28122	N	0.930573	B;B	0.25667	0.009;0.131	B;B	0.26310	0.022;0.068	T	0.69982	-0.4997	10	0.13853	T	0.58	-11.4565	5.6847	0.17797	0.1681:0.6553:0.0:0.1766	.	521;532	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	532;521;514	ENSP00000296513:A532V;ENSP00000373376:A521V;ENSP00000373377:A514V	ENSP00000296513:A532V	A	+	2	0	0	ADAD1	123561973	123561973	0.563000	0.26594	0.999000	0.59377	0.982000	0.71751	1.029000	0.30140	2.277000	0.76020	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.664770	1	0.170000	NM_139243			15	15		180	179	0		1			0	0	22	0		9.998879e-01	0	0	0	0	0	0	15	180
IL21	59067	broad.mit.edu	37	4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	28					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAATCATGTGGCGATCTTG	0.398																																						ENST00000264497.3	1.000000	0.160000	4.700000e-01	2.400000e-01	0.330000	0.381127	0.330000	0.320000																										0				8						c.(103-105)cAc>cGc		interleukin 21							137.0	131.0	133.0					4																	123542063		2203	4300	6503	SO:0001583	missense	59067	0	0					g.chr4:123542063T>C	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.104A>G	chr4.hg19:g.123542063T>C	ENSP00000264497:p.His35Arg	0					IL21-AS1_ENST00000417927.1_RNA	p.H35R	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	1	2	3	1.998139	Q9HBE4	IL21_HUMAN		1	161	-			A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	1	1	hg19	c.104A>G	CCDS3727.1	0	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292013	0.23564	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-1.7	0.08159	5.63	-1.7	0.08159	.	1.503550	0.03896	N	0.279500	T	0.16214	0.0390	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	0.13072	-1.0523	9	0.23302	T	0.38	0.9318	1.9273	0.03319	0.3357:0.2071:0.0705:0.3867	.	28;28	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	R	35	.	ENSP00000264497:H35R	H	-	2	0	0	IL21	123761513	123761513	0.008000	0.16893	0.794000	0.32065	0.895000	0.52256	0.074000	0.14662	0.048000	0.15891	-0.339000	0.08088	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.472806	1	0.170000	NM_021803			10	10		361	357	0		1	0		0	0	89	0		9.968050e-01	0	0	0	0	1	0	10	361
BBS12	166379	broad.mit.edu	37	4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000314218.3	+	2	230	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	13					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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333									Bardet-Biedl syndrome																													ENST00000314218.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(37-39)Cac>Aac		Bardet-Biedl syndrome 12							85.0	84.0	85.0					4																	123663084		2203	4300	6503	SO:0001583	missense	166379	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr4:123663084C>A	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.37C>A	chr4.hg19:g.123663084C>A	ENSP00000319062:p.His13Asn	0					BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	p.H13N	NM_152618.2	NP_689831.2	1	2	3	1.998139	Q6ZW61	BBS12_HUMAN		2	230	+			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	1	1	hg19	c.37C>A	CCDS3728.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262943	0.80358	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.69040	-0.37;-0.37;-0.37	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.056728	0.64402	D	0.000002	T	0.80486	0.4632	M	0.66939	2.045	0.48341	D	0.999632	D	0.89917	1.0	D	0.69307	0.963	T	0.82733	-0.0311	10	0.72032	D	0.01	-2.5257	18.47	0.90769	0.0:1.0:0.0:0.0	.	13	Q6ZW61	BBS12_HUMAN	N	13	ENSP00000319062:H13N;ENSP00000438273:H13N;ENSP00000398912:H13N	ENSP00000319062:H13N	H	+	1	0	0	BBS12	123882534	123882534	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.137000	0.64789	2.430000	0.82344	0.585000	0.79938	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_152618			57	57		251	250	1		1	1		0	0	75	0		1	9.394110e-01	0	5	0	18	0	57	251
BBS12	166379	broad.mit.edu	37	4	123664001	123664001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000314218.3	+	2	1147	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000542236.1_Silent_p.C318C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	318					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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378									Bardet-Biedl syndrome																													ENST00000314218.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				21						c.(952-954)tgC>tgT		Bardet-Biedl syndrome 12							82.0	70.0	74.0					4																	123664001		2203	4300	6503	SO:0001819	synonymous_variant	166379	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr4:123664001C>T	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.954C>T	chr4.hg19:g.123664001C>T		0					BBS12_ENST00000542236.1_Silent_p.C318C	p.C318C	NM_152618.2	NP_689831.2	1	2	3	1.998139	Q6ZW61	BBS12_HUMAN		2	1147	+			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	1	1	hg19	c.954C>T	CCDS3728.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_152618			27	27		140	138	1		1	1		0	0	35	0		1	9.315453e-01	0	7	0	19	0	27	140
BBS12	166379	broad.mit.edu	37	4	123664988	123664988	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664988T>G	ENST00000314218.3	+	2	2134	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	BBS12_ENST00000542236.1_Missense_Mutation_p.I647M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	647					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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATAGTAGAATTTTTAATTCAG	0.378									Bardet-Biedl syndrome																													ENST00000314218.3	1.000000	0.110000	4.500000e-01	1.900000e-01	0.290000	0.342476	0.290000	0.260000																										0				21						c.(1939-1941)atT>atG		Bardet-Biedl syndrome 12							46.0	48.0	47.0					4																	123664988		2203	4300	6503	SO:0001583	missense	166379	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr4:123664988T>G	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.1941T>G	chr4.hg19:g.123664988T>G	ENSP00000319062:p.Ile647Met	0					BBS12_ENST00000542236.1_Missense_Mutation_p.I647M	p.I647M	NM_152618.2	NP_689831.2	1	2	3	1.998139	Q6ZW61	BBS12_HUMAN		2	2134	+			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	0	1	hg19	c.1941T>G	CCDS3728.1	0	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731093	0.30684	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70282	-0.47;-0.47	5.63	3.0	0.34707	5.63	3.0	0.34707	.	1.298120	0.05026	N	0.473681	T	0.70369	0.3216	L	0.60455	1.87	0.25110	N	0.990721	B	0.19445	0.036	B	0.22152	0.038	T	0.56697	-0.7936	10	0.37606	T	0.19	-30.0686	12.6001	0.56492	0.0:0.0:0.3882:0.6118	.	647	Q6ZW61	BBS12_HUMAN	M	647	ENSP00000319062:I647M;ENSP00000438273:I647M	ENSP00000319062:I647M	I	+	3	3	3	BBS12	123884438	123884438	0.635000	0.27199	0.825000	0.32803	0.174000	0.22865	0.292000	0.19011	0.934000	0.37316	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	0	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-7.778812	1	0.170000	NM_152618			6	6		260	257	0		1	0		0	0	53	0		9.642206e-01	1.003398e-01	0	0	0	20	0	6	260
SPATA5	166378	broad.mit.edu	37	4	123848884	123848884	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.4	+	2	328	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	87					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGACCAGTGTTGCTTACTAG	0.343																																						ENST00000274008.4	1.000000	0.230000	5.200000e-01	3.000000e-01	0.390000	0.433602	0.390000	0.370000																										0				24						c.(259-261)Ttg>Ctg		spermatogenesis associated 5							134.0	131.0	132.0					4																	123848884		2203	4300	6503	SO:0001819	synonymous_variant	166378	0	0					g.chr4:123848884T>C	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.259T>C	chr4.hg19:g.123848884T>C		0					SPATA5_ENST00000422835.2_3'UTR	p.L87L	NM_145207.2	NP_660208.2	1	2	3	1.998139	Q8NB90	SPAT5_HUMAN		2	328	+			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	1	1	hg19	c.259T>C	CCDS3730.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.453851	1	0.170000	NM_145207			16	16		480	468	0		1	0		0	0	92	0		9.999220e-01	2.961309e-02	0	0	0	8	0	16	480
SPATA5	166378	broad.mit.edu	37	4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.4	+	5	1098	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328																																						ENST00000274008.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1027-1029)gaG>gaT		spermatogenesis associated 5							39.0	40.0	40.0					4																	123855775		2202	4300	6502	SO:0001583	missense	166378	0	0					g.chr4:123855775G>T	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.1029G>T	chr4.hg19:g.123855775G>T	ENSP00000274008:p.Glu343Asp	0					SPATA5_ENST00000422835.2_3'UTR	p.E343D	NM_145207.2	NP_660208.2	1	2	3	1.998139	Q8NB90	SPAT5_HUMAN		5	1098	+			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	1	1	hg19	c.1029G>T	CCDS3730.1	1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953680	0.18431	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	4.87	-3.9	0.04181	4.87	-3.9	0.04181	.	0.467168	0.23496	N	0.047549	D	0.83963	0.5368	L	0.28400	0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71213	-0.4659	10	0.20519	T	0.43	-7.0171	0.6953	0.00898	0.3374:0.277:0.1866:0.1991	.	343;343	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	343	ENSP00000274008:E343D	ENSP00000274008:E343D	E	+	3	2	2	SPATA5	124075225	124075225	0.842000	0.29525	0.004000	0.12327	0.944000	0.59088	0.034000	0.13776	-1.054000	0.03214	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_145207			54	52		209	205	1		1	1		0	0	43	0		1	6.918728e-01	0	2	0	9	0	54	209
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T	rs201227451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.0		0.001	False		,,,				2504	0.0					ENST00000274008.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999903	0.990000	1.000000																										0				24						c.(2353-2355)Cct>Tct		spermatogenesis associated 5							132.0	121.0	125.0					4																	124177183		2203	4300	6503	SO:0001583	missense	166378	1	121412	31				g.chr4:124177183C>T	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.2353C>T	chr4.hg19:g.124177183C>T	ENSP00000274008:p.Pro785Ser	0						p.P785S	NM_145207.2	NP_660208.2	1	2	3	1.998139	Q8NB90	SPAT5_HUMAN		15	2422	+			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	1	1	hg19	c.2353C>T	CCDS3730.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.26	3.794047	0.70452	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.57	4.57	0.56435	4.57	4.57	0.56435	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000003	D	0.96824	0.8963	L	0.55103	1.725	0.58432	D	0.999995	D	0.62365	0.991	D	0.70935	0.971	D	0.97492	1.0054	10	0.72032	D	0.01	-19.9527	17.5624	0.87910	0.0:1.0:0.0:0.0	.	785	Q8NB90	SPAT5_HUMAN	S	785	ENSP00000274008:P785S	ENSP00000274008:P785S	P	+	1	0	0	SPATA5	124396633	124396633	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.535000	0.73838	2.369000	0.80426	0.467000	0.42956	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_145207			43	43		284	275	1		1	1		0	0	50	0		1	6.446517e-01	0	3	0	12	0	43	284
SPATA5	166378	broad.mit.edu	37	4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	831					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448																																						ENST00000274008.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2491-2493)taC>taA		spermatogenesis associated 5							106.0	99.0	102.0					4																	124177323		2203	4300	6503	SO:0001587	stop_gained	166378	0	0					g.chr4:124177323C>A	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.2493C>A	chr4.hg19:g.124177323C>A	ENSP00000274008:p.Tyr831*	0						p.Y831*	NM_145207.2	NP_660208.2	1	2	3	1.998139	Q8NB90	SPAT5_HUMAN		15	2562	+			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	0	1	hg19	c.2493C>A	CCDS3730.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.648096	0.96714	.	.	ENSG00000145375	ENST00000274008	.	.	.	4.7	0.182	0.15077	4.7	0.182	0.15077	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.753	9.981	0.41813	0.0:0.4256:0.0:0.5744	.	.	.	.	X	831	.	ENSP00000274008:Y831X	Y	+	3	2	2	SPATA5	124396773	124396773	0.872000	0.30054	0.972000	0.41901	0.401000	0.30781	-0.155000	0.10115	0.070000	0.16634	0.557000	0.71058	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	1		20	3	2	1		1	1	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_145207			73	71		335	331	1		1	1		1	0	63	0		1	7.206213e-01	0	8	0	12	0	73	335
ANKRD50	57182	broad.mit.edu	37	4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1229	Ser-rich.									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						ATTGACTGTCGACTTCTACTG	0.413																																						ENST00000504087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3685-3687)Cga>Tga		ankyrin repeat domain 50							204.0	196.0	199.0					4																	125590747		2203	4300	6503	SO:0001587	stop_gained	57182	0	0					g.chr4:125590747G>A	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.3685C>T	chr4.hg19:g.125590747G>A	ENSP00000425658:p.Arg1229*	0					ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	p.R1229*	NM_020337.2	NP_065070.1	1	2	3	1.998139	Q9ULJ7	ANR50_HUMAN		4	4722	-			A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	0	1	hg19	c.3685C>T	CCDS34060.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.225748	0.99827	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.36	3.43	0.39272	5.36	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0537	0.58967	0.0:0.0:0.609:0.391	.	.	.	.	X	1229;1050	.	ENSP00000425658:R1229X	R	-	1	2	2	ANKRD50	125810197	125810197	1.000000	0.71417	0.961000	0.40146	0.955000	0.61496	2.587000	0.46128	1.436000	0.47453	0.561000	0.74099	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1		2	2	2	0		0	0	254		254	249	1	2.060000	-20.000000	1	0.170000	NM_020337			226	223		964	945	1		1	1		0	0	254	0		1	9.999792e-01	0	10	0	56	0	226	964
ANKRD50	57182	broad.mit.edu	37	4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										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						ACCCATAGACGCTGCTGCTAA	0.458																																						ENST00000504087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2365-2367)gCg>gTg		ankyrin repeat domain 50							142.0	131.0	135.0					4																	125592066		2203	4300	6503	SO:0001583	missense	57182	2	121406	41				g.chr4:125592066G>A	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.2366C>T	chr4.hg19:g.125592066G>A	ENSP00000425658:p.Ala789Val	0					ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	p.A789V	NM_020337.2	NP_065070.1	1	2	3	1.998139	Q9ULJ7	ANR50_HUMAN		4	3403	-			A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	1	1	hg19	c.2366C>T	CCDS34060.1	1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184636	0.57909	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	4.99	4.99	0.66335	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.46819	1.47	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.72367	-0.4315	10	0.56958	D	0.05	.	18.4729	0.90781	0.0:0.0:1.0:0.0	.	789	Q9ULJ7	ANR50_HUMAN	V	789;610	ENSP00000425658:A789V;ENSP00000425355:A610V	ENSP00000425658:A789V	A	-	2	0	0	ANKRD50	125811516	125811516	1.000000	0.71417	0.916000	0.36221	0.746000	0.42486	9.060000	0.93907	2.606000	0.88127	0.561000	0.74099	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_020337			91	90		381	375	1		1	1		0	0	100	0		1	9.992702e-01	0	8	0	39	0	91	381
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										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						TTCATCAACAGAATCAACAAG	0.438																																						ENST00000504087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(577-579)tCt>tAt		ankyrin repeat domain 50							169.0	170.0	170.0					4																	125599995		2203	4300	6503	SO:0001583	missense	57182	0	0					g.chr4:125599995G>T	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.578C>A	chr4.hg19:g.125599995G>T	ENSP00000425658:p.Ser193Tyr	0					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	p.S193Y	NM_020337.2	NP_065070.1	1	2	3	1.998139	Q9ULJ7	ANR50_HUMAN		3	1615	-			A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	1	1	hg19	c.578C>A	CCDS34060.1	1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736369	0.69189	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83473	0.0060	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	Y	193;14	ENSP00000425658:S193Y;ENSP00000425355:S14Y	ENSP00000425658:S193Y	S	-	2	0	0	ANKRD50	125819445	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_020337			148	147		601	588	1		1	1		0	0	145	0		1	9.972377e-01	0	4	0	34	0	148	601
FAT4	79633	broad.mit.edu	37	4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2. {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)			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						GCCTAAGCGGCGGGGCTACCT	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(691-693)Cgg>Tgg		FAT atypical cadherin 4							34.0	39.0	37.0					4																	126238257		2069	4201	6270	SO:0001583	missense	79633	0	0					g.chr4:126238257C>T	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.691C>T	chr4.hg19:g.126238257C>T	ENSP00000377862:p.Arg231Trp	0		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R231W	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	704	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.691C>T	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019790	0.35606	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.13	4.27	0.50696	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.32430	U	0.006116	T	0.54743	0.1877	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.51325	-0.8720	10	0.37606	T	0.19	.	9.1011	0.36669	0.0:0.7744:0.1487:0.0769	.	231	Q6V0I7	FAT4_HUMAN	W	231	ENSP00000377862:R231W	ENSP00000377862:R231W	R	+	1	2	2	FAT4	126457707	126457707	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.299000	0.43611	1.102000	0.41551	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_024582			46	45		165	160	1		1	1		0	0	41	0		1	5.521859e-01	0	2	0	6	0	46	165
FAT4	79633	broad.mit.edu	37	4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	480	Cadherin 5. {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)			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						CAGCAAGTGTACAGAGTGAAC	0.542											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				355						c.(1438-1440)tAc>tGc		FAT atypical cadherin 4							43.0	47.0	46.0					4																	126239005		2197	4293	6490	SO:0001583	missense	79633	0	0					g.chr4:126239005A>G	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.1439A>G	chr4.hg19:g.126239005A>G	ENSP00000377862:p.Tyr480Cys	0		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.Y480C	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	1452	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.1439A>G	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511323	0.44660	.	.	ENSG00000196159	ENST00000394329	T	0.57595	0.39	4.66	3.49	0.39957	4.66	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.31859	U	0.006954	T	0.79034	0.4378	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	.	7.4765	0.27378	0.8343:0.0:0.1657:0.0	.	480	Q6V0I7	FAT4_HUMAN	C	480	ENSP00000377862:Y480C	ENSP00000377862:Y480C	Y	+	2	0	0	FAT4	126458455	126458455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	0.831000	0.34780	0.459000	0.35465	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_024582			35	35		153	149	1		1	0		0	0	40	0		1	1.665146e-01	0	1	0	3	0	35	153
FAT4	79633	broad.mit.edu	37	4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	697	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						TACTTTGCTCACATTAAGGAG	0.478																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(2089-2091)cAc>cGc		FAT atypical cadherin 4							90.0	92.0	92.0					4																	126239656		1986	4178	6164	SO:0001583	missense	79633	1	120922	33				g.chr4:126239656A>G	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.2090A>G	chr4.hg19:g.126239656A>G	ENSP00000377862:p.His697Arg	0						p.H697R	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	2103	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.2090A>G	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	A	8.298	0.819281	0.16607	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	5.28	2.88	0.33553	5.28	2.88	0.33553	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	U	0.003202	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.29077	0.098	T	0.60762	-0.7199	10	0.21540	T	0.41	.	9.1287	0.36833	0.8521:0.0:0.1479:0.0	.	697	Q6V0I7	FAT4_HUMAN	R	697	ENSP00000377862:H697R	ENSP00000377862:H697R	H	+	2	0	0	FAT4	126459106	126459106	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.443000	0.59994	0.844000	0.35094	0.533000	0.62120	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_024582			85	83		351	339	1		1	0		0	0	92	0		1	5.507129e-01	0	1	0	8	0	85	351
FAT4	79633	broad.mit.edu	37	4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	931	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						GTACTCTATAGTCTGAAGCAA	0.473																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(2791-2793)aGt>aTt		FAT atypical cadherin 4							58.0	61.0	60.0					4																	126240358		1944	4150	6094	SO:0001583	missense	79633	0	0					g.chr4:126240358G>T	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.2792G>T	chr4.hg19:g.126240358G>T	ENSP00000377862:p.Ser931Ile	0						p.S931I	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	2805	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.2792G>T	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595127	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.02656	4.21	5.63	5.63	0.86233	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	U	0.001073	T	0.17066	0.0410	M	0.81341	2.54	0.80722	D	1	P	0.48230	0.907	D	0.65684	0.937	T	0.00143	-1.1996	10	0.37606	T	0.19	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	931	Q6V0I7	FAT4_HUMAN	I	931	ENSP00000377862:S931I	ENSP00000377862:S931I	S	+	2	0	0	FAT4	126459808	126459808	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_024582			45	43		191	183	1		1	1		0	0	45	0		1	6.492715e-01	0	5	0	6	0	45	191
FAT4	79633	broad.mit.edu	37	4	126240893	126240893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1109	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)			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						CATTTTACTTCGAAGAAGAGC	0.393																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(3325-3327)ttC>ttT		FAT atypical cadherin 4							159.0	153.0	155.0					4																	126240893		1853	4077	5930	SO:0001819	synonymous_variant	79633	1	120812	37				g.chr4:126240893C>T	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.3327C>T	chr4.hg19:g.126240893C>T		0						p.F1109F	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	3340	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	1	1	hg19	c.3327C>T	CCDS3732.3	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	179		179	179	1	2.060000	-20.000000	1	0.170000	NM_024582			189	188		760	750	1		1	1		0	0	179	0		1	7.638282e-01	0	4	0	9	0	189	760
FAT4	79633	broad.mit.edu	37	4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1437	Cadherin 14. {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)			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						TCCCATCGGTACATCTGTCAT	0.418																																						ENST00000394329.3	1.000000	0.720000	1	8.300000e-01	0.940000	0.925738	0.940000	1.000000																										0				355						c.(4309-4311)Aca>Gca		FAT atypical cadherin 4							152.0	140.0	144.0					4																	126241875		1904	4126	6030	SO:0001583	missense	79633	0	0					g.chr4:126241875A>G	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.4309A>G	chr4.hg19:g.126241875A>G	ENSP00000377862:p.Thr1437Ala	0						p.T1437A	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	4322	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.4309A>G	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504709	0.26949	.	.	ENSG00000196159	ENST00000394329	T	0.57107	0.42	4.87	3.65	0.41850	4.87	3.65	0.41850	Cadherin (3);Cadherin-like (1);	0.297436	0.18242	U	0.147212	T	0.45955	0.1368	M	0.63428	1.95	0.58432	D	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.28235	-1.0050	10	0.10902	T	0.67	.	10.863	0.46837	0.8588:0.0:0.0:0.1412	.	1437	Q6V0I7	FAT4_HUMAN	A	1437	ENSP00000377862:T1437A	ENSP00000377862:T1437A	T	+	1	0	0	FAT4	126461325	126461325	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	5.721000	0.68477	0.850000	0.35239	0.533000	0.62120	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_024582			60	59		696	684	0		1	1		0	0	146	0		1	3.117745e-01	0	2	0	12	0	60	696
FAT4	79633	broad.mit.edu	37	4	126242165	126242165	+	Silent	SNP	C	C	T	rs371858685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1533	Cadherin 15. {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)			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						TATCACAAAACGCCCTTGCTG	0.433																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(4597-4599)aaC>aaT		FAT atypical cadherin 4		C		0,3912		0,0,1956	160.0	148.0	152.0		4599	-7.1	0.9	4		152	1,8305		0,1,4152	no	coding-synonymous	FAT4	NM_024582.4		0,1,6108	TT,TC,CC		0.012,0.0,0.0082		1533/4982	126242165	1,12217	1956	4153	6109	SO:0001819	synonymous_variant	79633	7	120906	45				g.chr4:126242165C>T	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.4599C>T	chr4.hg19:g.126242165C>T		0						p.N1533N	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	4612	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	1	1	hg19	c.4599C>T	CCDS3732.3	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0		2	2	2	0		0	0	175		175	175	1	2.060000	-20.000000	1	0.170000	NM_024582			169	165		754	743	0		1	1		0	0	175	0		1	6.739578e-01	0	3	0	9	0	169	754
FAT4	79633	broad.mit.edu	37	4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1566	Cadherin 15. {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)			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						TAGAGTATGAGATCATCAATG	0.473																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(4696-4698)gaG>gaT		FAT atypical cadherin 4							134.0	130.0	131.0					4																	126242264		2019	4201	6220	SO:0001583	missense	79633	0	0					g.chr4:126242264G>T	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.4698G>T	chr4.hg19:g.126242264G>T	ENSP00000377862:p.Glu1566Asp	0						p.E1566D	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	4711	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.4698G>T	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148265	0.57151	.	.	ENSG00000196159	ENST00000394329	T	0.52526	0.66	4.35	4.35	0.52113	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.56046	0.1959	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47787	-0.9090	10	0.23891	T	0.37	.	10.7952	0.46455	0.1381:0.0:0.8619:0.0	.	1566	Q6V0I7	FAT4_HUMAN	D	1566	ENSP00000377862:E1566D	ENSP00000377862:E1566D	E	+	3	2	2	FAT4	126461714	126461714	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.768000	0.26590	2.420000	0.82092	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	0		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000	NM_024582			151	146		669	654	1		1	1		0	0	143	0		1	7.202870e-01	0	2	0	11	0	151	669
FAT4	79633	broad.mit.edu	37	4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1663	Cadherin 16. {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)			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						TGAGGCCCCAGTGGAGTATTA	0.418																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(4987-4989)Gtg>Atg		FAT atypical cadherin 4							84.0	85.0	85.0					4																	126242553		1846	4084	5930	SO:0001583	missense	79633	0	0					g.chr4:126242553G>A	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.4987G>A	chr4.hg19:g.126242553G>A	ENSP00000377862:p.Val1663Met	0						p.V1663M	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		1	5000	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.4987G>A	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212870	0.58452	.	.	ENSG00000196159	ENST00000394329	T	0.43294	0.95	4.34	4.34	0.51931	4.34	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.62171	0.2406	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68205	-0.5470	10	0.72032	D	0.01	.	17.0734	0.86580	0.0:0.0:1.0:0.0	.	1663	Q6V0I7	FAT4_HUMAN	M	1663	ENSP00000377862:V1663M	ENSP00000377862:V1663M	V	+	1	0	0	FAT4	126462003	126462003	1.000000	0.71417	0.892000	0.35008	0.406000	0.30931	9.392000	0.97252	2.263000	0.75096	0.650000	0.86243	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_024582			120	116		504	495	1		1	1		0	0	108	0		1	9.028389e-01	0	6	0	13	0	120	504
FAT4	79633	broad.mit.edu	37	4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2194	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)			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						TATGGCATTGTTAATGGTAAT	0.418																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(6580-6582)gTt>gCt		FAT atypical cadherin 4							168.0	152.0	158.0					4																	126336699		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126336699T>C	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.6581T>C	chr4.hg19:g.126336699T>C	ENSP00000377862:p.Val2194Ala	0					FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	p.V2194A	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		5	6594	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.6581T>C	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059170	0.07317	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.260892	0.18847	U	0.129510	T	0.39784	0.1091	L	0.35793	1.09	0.09310	N	1	B;B	0.19935	0.022;0.04	B;B	0.27262	0.026;0.078	T	0.23440	-1.0188	10	0.09843	T	0.71	.	15.8	0.78447	0.0:0.0:0.0:1.0	.	492;2194	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2194;492	ENSP00000377862:V2194A;ENSP00000335169:V492A	ENSP00000335169:V492A	V	+	2	0	0	FAT4	126556149	126556149	0.542000	0.26426	0.005000	0.12908	0.057000	0.15508	4.622000	0.61240	2.135000	0.66039	0.455000	0.32223	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_024582			126	122		492	486	1		1	0		0	0	145	0		1	8.107328e-01	0	1	0	13	0	126	492
FAT4	79633	broad.mit.edu	37	4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2247	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)			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						ACGGTCAGCATTGTTCTACTG	0.423																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(6739-6741)aTt>aCt		FAT atypical cadherin 4							96.0	94.0	95.0					4																	126336858		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126336858T>C	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.6740T>C	chr4.hg19:g.126336858T>C	ENSP00000377862:p.Ile2247Thr	0					FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	p.I2247T	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		5	6753	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.6740T>C	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.47	5.47	0.80525	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.84019	0.5380	H	0.96604	3.85	0.58432	D	0.999993	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	D	0.89618	0.3846	10	0.87932	D	0	.	15.5516	0.76158	0.0:0.0:0.0:1.0	.	545;2247	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2247;545	ENSP00000377862:I2247T;ENSP00000335169:I545T	ENSP00000335169:I545T	I	+	2	0	0	FAT4	126556308	126556308	1.000000	0.71417	0.041000	0.18516	0.002000	0.02628	7.880000	0.87243	2.075000	0.62263	0.460000	0.39030	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_024582			79	77		298	292	1		1	1		0	0	82	0		1	8.759026e-01	0	6	0	10	0	79	298
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	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)			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						TTGTCTTTGCGGTTACAGTCA	0.368																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(7459-7461)gcG>gcA		FAT atypical cadherin 4							89.0	90.0	90.0					4																	126369632		2203	4299	6502	SO:0001819	synonymous_variant	79633	1	121410	30				g.chr4:126369632G>A	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.7461G>A	chr4.hg19:g.126369632G>A		0					FAT4_ENST00000335110.5_Silent_p.A785A	p.A2487A	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		9	7474	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	1	1	hg19	c.7461G>A	CCDS3732.3	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-2.879748	1	0.170000	NM_024582			79	78		462	452	1		1	1		0	0	109	0		1	7.333652e-01	0	5	0	12	0	79	462
FAT4	79633	broad.mit.edu	37	4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2958	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						ATCTTCAGATCGAGGTAAACC	0.333																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(8872-8874)Cga>Tga		FAT atypical cadherin 4							69.0	70.0	70.0					4																	126371043		2203	4299	6502	SO:0001587	stop_gained	79633	0	0					g.chr4:126371043C>T	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.8872C>T	chr4.hg19:g.126371043C>T	ENSP00000377862:p.Arg2958*	0					FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	p.R2958*	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		9	8885	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	0	1	hg19	c.8872C>T	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	C	50	16.322416	0.99860	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.34	4.49	0.54785	5.34	4.49	0.54785	.	0.000000	0.30311	U	0.009916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.4453	0.61138	0.2856:0.7144:0.0:0.0	.	.	.	.	X	2958;1256	.	ENSP00000335169:R1256X	R	+	1	2	2	FAT4	126590493	126590493	0.993000	0.37304	0.947000	0.38551	0.929000	0.56500	0.941000	0.29005	1.377000	0.46286	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.039406	1	0.170000	NM_024582			56	54		286	284	1		1	1		0	0	61	0		1	7.917954e-01	0	2	0	15	0	56	286
FAT4	79633	broad.mit.edu	37	4	126371527	126371527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371527C>T	ENST00000394329.3	+	9	9369	c.9356C>T	c.(9355-9357)gCg>gTg	p.A3119V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3119	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)			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						AGAGATGCAGCGATGAATGGC	0.413																																						ENST00000394329.3	1.000000	0.700000	1	8.500000e-01	0.990000	0.946389	0.990000	1.000000																										0				355						c.(9355-9357)gCg>gTg		FAT atypical cadherin 4							73.0	69.0	70.0					4																	126371527		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126371527C>T	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.9356C>T	chr4.hg19:g.126371527C>T	ENSP00000377862:p.Ala3119Val	0					FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	p.A3119V	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		9	9369	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	0	1	hg19	c.9356C>T	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303988	0.40795	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.60715	0.2290	L	0.56199	1.76	0.47065	D	0.999304	P;D;D	0.69078	0.948;0.992;0.997	B;P;P	0.55345	0.301;0.689;0.774	T	0.63065	-0.6720	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1417;3119;3119	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3119;1417	ENSP00000377862:A3119V;ENSP00000335169:A1417V	ENSP00000335169:A1417V	A	+	2	0	0	FAT4	126590977	126590977	0.997000	0.39634	0.173000	0.22940	0.068000	0.16541	4.202000	0.58446	2.652000	0.90054	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	1		17	2	2	1		1	1	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_024582			29	29		309	305	0		1	0		1	0	65	0		9.739968e-01	3.527214e-01	0	0	0	14	0	29	309
FAT4	79633	broad.mit.edu	37	4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4806					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)			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						CCAAGTATCTGCAGTGCAGAC	0.522																																						ENST00000394329.3	1.000000	0.510000	9.600000e-01	6.300000e-01	0.770000	0.788397	0.770000	1.000000																										0				355						c.(14416-14418)tGc>tAc		FAT atypical cadherin 4							59.0	61.0	60.0					4																	126412394		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126412394G>A	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.14417G>A	chr4.hg19:g.126412394G>A	ENSP00000377862:p.Cys4806Tyr	0					FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	p.C4806Y	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		17	14430	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.14417G>A	CCDS3732.3	0	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478360	0.44044	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75589	-0.75;-0.95	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.37761	U	0.001958	D	0.83138	0.5189	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.84756	0.0759	10	0.59425	D	0.04	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3047;4806;4805	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	4806;3047	ENSP00000377862:C4806Y;ENSP00000335169:C3047Y	ENSP00000335169:C3047Y	C	+	2	0	0	FAT4	126631844	126631844	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.135000	0.77276	2.253000	0.74438	0.491000	0.48974	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_024582			26	26		376	367	1		1	1		0	0	84	0		9.999999e-01	8.471726e-01	0	8	0	43	0	26	376
FAT4	79633	broad.mit.edu	37	4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4921					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)			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						GCCCATGAAGCTAGGGCAGCA	0.557																																						ENST00000394329.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				355						c.(14761-14763)Cta>Ata		FAT atypical cadherin 4							60.0	57.0	58.0					4																	126412738		2203	4300	6503	SO:0001583	missense	79633	0	0					g.chr4:126412738C>A	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.14761C>A	chr4.hg19:g.126412738C>A	ENSP00000377862:p.Leu4921Ile	0					FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	p.L4921I	NM_024582.4	NP_078858.4	1	2	3	1.998139	Q6V0I7	FAT4_HUMAN		17	14774	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.14761C>A	CCDS3732.3	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375834	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.79;-0.96	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.000000	0.29508	U	0.011943	T	0.80660	0.4665	L	0.51422	1.61	0.53688	D	0.999976	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60789	0.879;0.76;0.879	T	0.79398	-0.1820	10	0.36615	T	0.2	.	16.7563	0.85499	0.0:1.0:0.0:0.0	.	3162;4921;4920	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4921;3162	ENSP00000377862:L4921I;ENSP00000335169:L3162I	ENSP00000335169:L3162I	L	+	1	2	2	FAT4	126632188	126632188	1.000000	0.71417	0.975000	0.42487	0.123000	0.20343	4.446000	0.60014	2.425000	0.82216	0.491000	0.48974	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_024582			58	58		228	224	1		1	1		0	0	67	0		1	9.943378e-01	0	8	0	26	0	58	228
INTU	27152	broad.mit.edu	37	4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	507					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)				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						GATTACTATGACATGAGGCGG	0.313																																						ENST00000335251.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1519-1521)gAc>gGc		inturned planar cell polarity protein							122.0	125.0	124.0					4																	128625399		2203	4300	6503	SO:0001583	missense	27152	0	0					g.chr4:128625399A>G	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.1520A>G	chr4.hg19:g.128625399A>G	ENSP00000334003:p.Asp507Gly	0					INTU_ENST00000512995.1_3'UTR	p.D507G	NM_015693.3	NP_056508.2	1	2	3	1.998139	Q9ULD6	INTU_HUMAN		10	1623	+			A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	1	1	hg19	c.1520A>G	CCDS34061.1	1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890620	0.33348	.	.	ENSG00000164066	ENST00000335251	T	0.32515	1.45	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.166700	0.52532	D	0.000064	T	0.22627	0.0546	N	0.21142	0.635	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.03483	-1.1032	10	0.31617	T	0.26	-15.4633	14.7898	0.69830	1.0:0.0:0.0:0.0	.	507	Q9ULD6	PDZD6_HUMAN	G	507	ENSP00000334003:D507G	ENSP00000334003:D507G	D	+	2	0	0	INTU	128844849	128844849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.459000	0.60102	2.158000	0.67659	0.454000	0.30748	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	XM_371707			107	105		371	362	1		1	0		0	0	72	0		1	5.634431e-01	0	0	0	8	0	107	371
INTU	27152	broad.mit.edu	37	4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T	rs371347616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	803					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)				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						TTTCCACTACGTTGCCTTAGA	0.353																																						ENST00000335251.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2407-2409)Gtt>Ttt		inturned planar cell polarity protein							111.0	103.0	106.0					4																	128632105		2203	4300	6503	SO:0001583	missense	27152	0	0					g.chr4:128632105G>T	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.2407G>T	chr4.hg19:g.128632105G>T	ENSP00000334003:p.Val803Phe	0						p.V803F	NM_015693.3	NP_056508.2	1	2	3	1.998139	Q9ULD6	INTU_HUMAN		14	2510	+			A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	1	1	hg19	c.2407G>T	CCDS34061.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338805	0.60963	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	4.68	0.58851	5.54	4.68	0.58851	.	0.147144	0.45606	D	0.000357	T	0.68805	0.3041	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.71388	-0.4608	9	0.72032	D	0.01	-11.6227	4.8369	0.13469	0.0767:0.3001:0.4844:0.1389	.	803	Q9ULD6	PDZD6_HUMAN	F	803	.	ENSP00000334003:V803F	V	+	1	0	0	INTU	128851555	128851555	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	2.508000	0.45450	1.534000	0.49203	0.650000	0.86243	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-4.249912	1	0.170000	XM_371707			83	83		279	266	1		1	1		0	0	48	0		1	7.979482e-01	0	2	0	10	0	83	279
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					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)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358																																						ENST00000281154.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(595-597)taC>taT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							186.0	182.0	184.0					4																	128688339		2203	4300	6503	SO:0001819	synonymous_variant	83447	0	0					g.chr4:128688339C>T	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.597C>T	chr4.hg19:g.128688339C>T		0						p.Y199Y	NM_031291.2	NP_112581.1	1	2	3	1.998139	Q9H0C2	ADT4_HUMAN		4	765	+				Silent	SNP	ENST00000281154.4	1	1	hg19	c.597C>T	CCDS3733.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-20.000000	1	0.170000	NM_031291			133	131		705	695	0		1			0	0	141	0		1	0	0	0	0	0	0	133	705
HSPA4L	22824	broad.mit.edu	37	4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	40					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			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						GCCTGTATATCATTGGGATCA	0.328																																						ENST00000296464.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(118-120)tCa>tTa		heat shock 70kDa protein 4-like							144.0	146.0	146.0					4																	128715243		2203	4300	6503	SO:0001583	missense	22824	0	0					g.chr4:128715243C>T	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.119C>T	chr4.hg19:g.128715243C>T	ENSP00000296464:p.Ser40Leu	0					HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L	p.S40L	NM_014278.2	NP_055093.2	1	2	3	1.998139	O95757	HS74L_HUMAN		2	530	+			A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	1	1	hg19	c.119C>T	CCDS3734.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558041	0.86231	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01599	5.34;5.34;5.34;4.74;5.34	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.89095	3.005	0.80722	D	1	B;B;B	0.34147	0.438;0.124;0.124	B;B;B	0.41946	0.371;0.068;0.068	T	0.00849	-1.1541	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:1.0:0.0:0.0	.	14;40;40	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	40;71;40;40;14	ENSP00000422482:S40L;ENSP00000393926:S71L;ENSP00000296464:S40L;ENSP00000427305:S40L;ENSP00000425645:S14L	ENSP00000296464:S40L	S	+	2	0	0	HSPA4L	128934693	128934693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.899000	0.75682	2.385000	0.81259	0.561000	0.74099	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	0	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_014278			118	118		610	599	1		1	1		0	0	127	0		1	6.879715e-01	0	6	0	8	0	118	610
PLK4	10733	broad.mit.edu	37	4	128815033	128815033	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	ENST00000270861.5	+	13	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	PLK4_ENST00000514379.1_Silent_p.P812P|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000515069.1_Silent_p.P775P	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	853					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)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						tccttaatccctctgtaagta	0.388																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				31						c.(2557-2559)ccC>ccA		polo-like kinase 4							56.0	55.0	55.0					4																	128815033		2203	4300	6503	SO:0001819	synonymous_variant	10733	0	0					g.chr4:128815033C>A	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.2559C>A	chr4.hg19:g.128815033C>A		0					RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P	p.P853P	NM_014264.4	NP_055079.3	1	2	3	1.998139	O00444	PLK4_HUMAN		13	2833	+			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	1	1	hg19	c.2559C>A	CCDS3735.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.715990	1	0.170000				37	36		186	182	0		1	1		0	0	53	0		1	9.650562e-01	0	11	0	19	0	37	186
MFSD8	256471	broad.mit.edu	37	4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	513					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473																																						ENST00000296468.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1537-1539)taT>taG		major facilitator superfamily domain containing 8							100.0	98.0	98.0					4																	128841803		2203	4300	6503	SO:0001587	stop_gained	256471	0	0					g.chr4:128841803A>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1539T>G	chr4.hg19:g.128841803A>C	ENSP00000296468:p.Tyr513*	0					MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	p.Y513*	NM_152778.2	NP_689991.1	1	2	3	1.998139	Q8NHS3	MFSD8_HUMAN		13	1666	-			B2RDM1|B7Z205|Q8N2P3	Nonsense_Mutation	SNP	ENST00000296468.3	0	1	hg19	c.1539T>G	CCDS3736.1	1	.	.	.	.	.	.	.	.	.	.	A	35	5.477345	0.96291	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.33	3.11	0.35812	4.33	3.11	0.35812	.	0.376195	0.29565	N	0.011790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2271	9.9504	0.41636	0.9176:0.0:0.0824:0.0	.	.	.	.	X	513;468	.	ENSP00000296468:Y513X	Y	-	3	2	2	MFSD8	129061253	129061253	1.000000	0.71417	0.915000	0.36163	0.620000	0.37586	1.365000	0.34182	1.830000	0.53286	0.459000	0.35465	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_152778			73	72		337	334	1		1	1		0	0	84	0		1	9.910426e-01	0	14	0	21	0	73	337
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128843022C>T	ENST00000296468.3	-	11	1222	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373																																						ENST00000296468.3	1.000000	0.190000	6.400000e-01	2.900000e-01	0.430000	0.475605	0.430000	0.390000																										1	Substitution - Missense(1)	p.Q365H(1)	prostate(1)	23						c.(1093-1095)caG>caA		major facilitator superfamily domain containing 8							67.0	69.0	69.0					4																	128843022		2203	4300	6503	SO:0001819	synonymous_variant	256471	0	0					g.chr4:128843022C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1095G>A	chr4.hg19:g.128843022C>T		0					MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	p.Q365Q	NM_152778.2	NP_689991.1	1	2	3	1.998139	Q8NHS3	MFSD8_HUMAN		11	1222	-			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	ENST00000296468.3	0	1	hg19	c.1095G>A	CCDS3736.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-9.265859	1	0.170000	NM_152778			7	7		199	196	0		1	0		0	0	39	0		9.801263e-01	2.917151e-01	0	1	0	27	0	7	199
LARP1B	55132	broad.mit.edu	37	4	128999013	128999013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128999013A>C	ENST00000326639.6	+	4	324	c.113A>C	c.(112-114)aAg>aCg	p.K38T	LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	38						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGGTTGAAAAGAGAAGTAAC	0.378																																						ENST00000326639.6	1.000000	0.160000	6.000000e-01	2.500000e-01	0.390000	0.439382	0.390000	0.350000																										0				34						c.(112-114)aAg>aCg		La ribonucleoprotein domain family, member 1B							79.0	82.0	81.0					4																	128999013		2203	4300	6503	SO:0001583	missense	55132	0	0					g.chr4:128999013A>C		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.113A>C	chr4.hg19:g.128999013A>C	ENSP00000321997:p.Lys38Thr	0					LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T	p.K38T	NM_018078.2	NP_060548.2	1	2	3	1.998139	Q659C4	LAR1B_HUMAN		4	324	+			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	0	1	hg19	c.113A>C	CCDS3738.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.034923|3.034923	0.54896|0.54896	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.51071	.|1.77;1.33;1.37;0.74;0.72;1.78;1.75;1.33	3.95|3.95	3.95|3.95	0.45737|0.45737	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.339622|0.339622	0.30028|0.30028	N|N	0.010591|0.010591	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47910	.|0.704;0.873;0.873;0.902	.|B;P;P;B	.|0.47346	.|0.122;0.544;0.544;0.359	T|T	0.40059|0.40059	-0.9583|-0.9583	6|10	.|0.44086	.|T	.|0.13	.|.	12.9379|12.9379	0.58325|0.58325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|38;38;38;38	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	N|T	6|38	.|ENSP00000321997:K38T;ENSP00000422850:K38T;ENSP00000427281:K38T;ENSP00000377829:K38T;ENSP00000390395:K38T;ENSP00000264584:K38T;ENSP00000396521:K38T;ENSP00000403586:K38T	.|ENSP00000264584:K38T	K|K	+|+	3|2	2|0	2|0	LARP1B|LARP1B	129218463|129218463	129218463|129218463	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	4.835000|4.835000	0.62781|0.62781	1.791000|1.791000	0.52520|0.52520	0.386000|0.386000	0.25728|0.25728	AAA|AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-3.222692	1	0.170000	NM_018078			6	6		191	186	0		1	1		0	0	22	0		9.628260e-01	9.248425e-01	0	12	0	138	0	6	191
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000326639.6	+	6	579	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373																																						ENST00000326639.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R123L(2)	lung(2)	34						c.(367-369)cGa>cAa		La ribonucleoprotein domain family, member 1B							81.0	85.0	83.0					4																	129012165		2203	4300	6503	SO:0001583	missense	55132	0	0					g.chr4:129012165G>A		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.368G>A	chr4.hg19:g.129012165G>A	ENSP00000321997:p.Arg123Gln	0					LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q	p.R123Q	NM_018078.2	NP_060548.2	1	2	3	1.998139	Q659C4	LAR1B_HUMAN		6	579	+			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	0	1	hg19	c.368G>A	CCDS3738.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402398	0.25291	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.46063	1.93;1.48;1.46;0.9;0.88;1.9;1.9;1.49	3.85	3.01	0.34805	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.37348	0.1000	L	0.53249	1.67	0.80722	D	1	P;D;B;B	0.60575	0.459;0.988;0.057;0.116	B;P;B;B	0.48227	0.014;0.571;0.011;0.008	T	0.22730	-1.0208	10	0.13108	T	0.6	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	Q	123;123;76;123;123;76;123;123	ENSP00000321997:R123Q;ENSP00000422850:R123Q;ENSP00000427281:R76Q;ENSP00000377829:R123Q;ENSP00000390395:R123Q;ENSP00000264584:R76Q;ENSP00000396521:R123Q;ENSP00000403586:R123Q	ENSP00000264584:R76Q	R	+	2	0	0	LARP1B	129231615	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_018078			70	70		313	307	0		1	1		0	0	50	0		1	9.999999e-01	0	32	0	78	0	70	313
LARP1B	55132	broad.mit.edu	37	4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000326639.6	+	11	1714	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	501						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358																																						ENST00000326639.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1501-1503)gaA>gaT		La ribonucleoprotein domain family, member 1B							98.0	95.0	96.0					4																	129043322		2203	4300	6503	SO:0001583	missense	55132	0	0					g.chr4:129043322A>T		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.1503A>T	chr4.hg19:g.129043322A>T	ENSP00000321997:p.Glu501Asp	0					LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D	p.E501D	NM_018078.2	NP_060548.2	1	2	3	1.998139	Q659C4	LAR1B_HUMAN		11	1714	+			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	1	1	hg19	c.1503A>T	CCDS3738.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962449|2.962449	0.53400|0.53400	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.36878|.	1.72;1.23;1.26;1.75;1.71;1.28|.	4.88|4.88	2.36|2.36	0.29203|0.29203	4.88|4.88	2.36|2.36	0.29203|0.29203	.|.	0.735154|.	0.12853|.	N|.	0.433769|.	T|.	0.55305|.	0.1912|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P;D;B|.	0.60160|.	0.768;0.987;0.031|.	B;P;B|.	0.55455|.	0.418;0.776;0.043|.	T|.	0.49293|.	-0.8955|.	10|.	0.20519|.	T|.	0.43|.	.|.	7.076|7.076	0.25205|0.25205	0.7959:0.0:0.073:0.1311|0.7959:0.0:0.073:0.1311	.|.	454;501;501|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	D|X	501;501;454;454;501;501|470	ENSP00000321997:E501D;ENSP00000422850:E501D;ENSP00000427281:E454D;ENSP00000264584:E454D;ENSP00000396521:E501D;ENSP00000403586:E501D|.	ENSP00000264584:E454D|.	E|K	+|+	3|1	2|0	2|0	LARP1B|LARP1B	129262772|129262772	129262772|129262772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.475000|0.475000	0.33008|0.33008	2.360000|2.360000	0.44151|0.44151	0.869000|0.869000	0.35703|0.35703	0.491000|0.491000	0.48974|0.48974	GAA|AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_018078			77	77		367	358	1		1	1		0	0	92	0		1	9.983198e-01	0	17	0	31	0	77	367
LARP1B	55132	broad.mit.edu	37	4	129128500	129128500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129128500C>A	ENST00000326639.6	+	19	2720	c.2509C>A	c.(2509-2511)Ctc>Atc	p.L837I	LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	837						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGAATACCTCTGTAGTTT	0.323																																						ENST00000326639.6	1.000000	0.180000	5.500000e-01	2.700000e-01	0.380000	0.430979	0.380000	0.370000																										0				34						c.(2509-2511)Ctc>Atc		La ribonucleoprotein domain family, member 1B							59.0	63.0	61.0					4																	129128500		2202	4291	6493	SO:0001583	missense	55132	0	0					g.chr4:129128500C>A		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.2509C>A	chr4.hg19:g.129128500C>A	ENSP00000321997:p.Leu837Ile	0					LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_3'UTR	p.L837I	NM_018078.2	NP_060548.2	1	2	3	1.998139	Q659C4	LAR1B_HUMAN		19	2720	+			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	0	1	hg19	c.2509C>A	CCDS3738.1	0	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759944	0.69763	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04603	3.59;3.59;3.59	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.78223	2.4	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	T	0.02156	-1.1204	10	0.87932	D	0	.	17.0318	0.86463	0.0:1.0:0.0:0.0	.	47;256;837	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	I	837;778;256	ENSP00000321997:L837I;ENSP00000264584:L778I;ENSP00000346444:L256I	ENSP00000264584:L778I	L	+	1	0	0	LARP1B	129347950	129347950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.602000	0.67612	2.211000	0.71520	0.561000	0.74099	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.503522	1	0.170000	NM_018078			9	8		282	280	0		1	0		0	0	57	0		9.941426e-01	3.549384e-01	0	1	0	36	0	9	282
JADE1	79960	broad.mit.edu	37	4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502																																						ENST00000226319.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1360-1362)tgG>tgA									101.0	97.0	98.0					4																	129783239		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr4:129783239G>A																												ENST00000226319.6:c.1362G>A	chr4.hg19:g.129783239G>A	ENSP00000226319:p.Trp454*	0					PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*	p.W454*	NM_199320.2	NP_955352.1	1	2	3	1.998139				9	1642	+				Nonsense_Mutation	SNP	ENST00000226319.6	0	1	hg19	c.1362G>A	CCDS34062.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.869016	0.97049	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	5.01	4.17	0.49024	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2619	0.60111	0.076:0.0:0.924:0.0	.	.	.	.	X	454;454;442;454;454;454	.	.	W	+	3	0	0	PHF17	130002689	130002689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	1.347000	0.45714	0.655000	0.94253	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-4.276379	1	0.170000				101	98		353	345	1		1	1		0	0	86	0		1	1	0	20	0	71	0	101	353
C4orf33	132321	broad.mit.edu	37	4	130023756	130023756	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130023756G>T	ENST00000281146.5	+	2	712		c.e2-1		C4orf33_ENST00000502887.1_Splice_Site|C4orf33_ENST00000425929.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTTCTTTTAGAGACTTCAGA	0.348																																						ENST00000281146.5	1.000000	0.130000	4.700000e-01	2.100000e-01	0.310000	0.366365	0.310000	0.290000																										0				10						c.e2-1		chromosome 4 open reading frame 33							51.0	51.0	51.0					4																	130023756		2203	4300	6503	SO:0001630	splice_region_variant	132321	0	0					g.chr4:130023756G>T	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.-9-1G>T	chr4.hg19:g.130023756G>T		0					C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site		NM_173487.2	NP_775758.2	1	2	3	1.998139	Q8N1A6	CD033_HUMAN		2	712	+			D3DNY2|Q6PJF3|Q8NBC5	Splice_Site	SNP	ENST00000281146.5	0	1	hg19		CCDS3741.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-7.886626	1	0.170000	NM_173487	Intron		7	7		274	266	0		1	0		0	0	51	0		9.788961e-01	2.722490e-02	0	0	0	9	0	7	274
MAEA	10296	broad.mit.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTTTCGCGCCGCTCAGAAGAA	0.642																																						ENST00000303400.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A36T(1)	large_intestine(1)	18						c.(106-108)Gct>Act		macrophage erythroblast attacher	WF10(DB05389)						71.0	57.0	62.0					4																	1305803		2203	4300	6503	SO:0001583	missense	10296	1	121412	29				g.chr4:1305803G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.106G>A	chr4.hg19:g.1305803G>A	ENSP00000302830:p.Ala36Thr	0					MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T	p.A36T	NM_001017405.1	NP_001017405.1	1	2	3	1.998139	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)	2	169	+			O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	1	1	hg19	c.106G>A	CCDS33936.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	0	MAEA	1295803	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.367061	1	0.170000	NM_005882			52	51		229	226	1		1	1		0	0	53	0		1	1	0	61	0	114	0	52	229
RAB28	9364	broad.mit.edu	37	4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000288723.4_3'UTR|RAB28_ENST00000338176.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	214					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)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453																																						ENST00000330852.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(640-642)agA>agC		RAB28, member RAS oncogene family							166.0	148.0	154.0					4																	13370206		2203	4300	6503	SO:0001583	missense	9364	0	0					g.chr4:13370206T>G	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.642A>C	chr4.hg19:g.13370206T>G	ENSP00000328551:p.Arg214Ser	0					RAB28_ENST00000288723.4_3'UTR|RAB28_ENST00000338176.4_3'UTR	p.R214S	NM_001017979.2	NP_001017979.1	1	2	3	1.998139	P51157	RAB28_HUMAN		7	856	-			G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	1	1	hg19	c.642A>C	CCDS33961.1	1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796757	0.50208	.	.	ENSG00000157869	ENST00000330852	T	0.69040	-0.37	6.07	-1.16	0.09678	6.07	-1.16	0.09678	.	0.111387	0.64402	N	0.000013	T	0.45875	0.1364	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.07177	-1.0786	10	0.45353	T	0.12	.	6.2495	0.20837	0.0:0.1625:0.2382:0.5993	.	214	P51157	RAB28_HUMAN	S	214	ENSP00000328551:R214S	ENSP00000328551:R214S	R	-	3	2	2	RAB28	12979304	12979304	0.909000	0.30893	0.916000	0.36221	0.997000	0.91878	-0.038000	0.12144	-0.392000	0.07751	0.533000	0.62120	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_001017979			50	49		271	265	1		1	1		0	0	62	0		1	9.996134e-01	0	16	0	50	0	50	271
C4orf33	132321	broad.mit.edu	37	4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	191										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328																																						ENST00000281146.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(571-573)Ctg>Atg		chromosome 4 open reading frame 33							93.0	91.0	91.0					4																	130032917		2203	4300	6503	SO:0001583	missense	132321	0	0					g.chr4:130032917C>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.571C>A	chr4.hg19:g.130032917C>A	ENSP00000281146:p.Leu191Met	0					C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	p.L191M	NM_173487.2	NP_775758.2	1	2	3	1.998139	Q8N1A6	CD033_HUMAN		6	1292	+			D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	1	1	hg19	c.571C>A	CCDS3741.1	1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448617	0.63178	.	.	ENSG00000151470	ENST00000281146;ENST00000425929	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58429	-0.7638	10	0.66056	D	0.02	-42.9836	18.7332	0.91744	0.0:1.0:0.0:0.0	.	191	Q8N1A6	CD033_HUMAN	M	191	ENSP00000281146:L191M;ENSP00000401090:L191M	ENSP00000281146:L191M	L	+	1	2	2	C4orf33	130252367	130252367	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	2.553000	0.45837	2.722000	0.93159	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.005868	1	0.170000	NM_173487			45	45		226	223	1		1	1		0	0	53	0		1	9.995504e-01	0	19	0	42	0	45	226
PCDH10	57575	broad.mit.edu	37	4	134071249	134071249	+	De_novo_Start_InFrame	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.5	+	0	780				RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GGGGAGGTGATTGGGTGGCTG	0.448																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136								protocadherin 10							61.0	63.0	63.0					4																	134071249		2203	4300	6503			57575	0	0					g.chr4:134071249T>G	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			chr4.hg19:g.134071249T>G		0					RP11-9G1.3_ENST00000505289.1_lincRNA		NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		0	780	+			Q4W5F6|Q96SF0	Translation_Start_Site	SNP	ENST00000264360.5	0	1	hg19		CCDS34063.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	0		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_032961			81	78		334	314	0		1			0	0	69	0		1	0	0	0	0	0	0	81	334
PCDH10	57575	broad.mit.edu	37	4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	41	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)			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)		CGCTGAAGATCTGGGTCTGGA	0.532																																						ENST00000264360.5	1.000000	0.180000	4.300000e-01	2.400000e-01	0.320000	0.366794	0.320000	0.310000																										0				136						c.(121-123)Ctg>Atg		protocadherin 10							126.0	121.0	122.0					4																	134071416		2203	4300	6503	SO:0001583	missense	57575	0	0					g.chr4:134071416C>A	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.121C>A	chr4.hg19:g.134071416C>A	ENSP00000264360:p.Leu41Met	0					RP11-9G1.3_ENST00000505289.1_lincRNA	p.L41M	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	947	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.121C>A	CCDS34063.1	0	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640984	0.47153	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59364	0.27	4.77	3.06	0.35304	4.77	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35436	N	0.003220	T	0.77579	0.4151	M	0.91140	3.18	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.78234	-0.2283	10	0.87932	D	0	.	8.4123	0.32651	0.0:0.7561:0.0:0.2439	.	41;41	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	41	ENSP00000264360:L41M	ENSP00000264360:L41M	L	+	1	2	2	PCDH10	134290866	134290866	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	0.617000	0.30160	-0.263000	0.10527	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-3.063234	1	0.170000	NM_032961			16	15		588	570	0		1			0	0	136	0		9.999142e-01	0	0	0	0	0	0	16	588
PCDH10	57575	broad.mit.edu	37	4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	207	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)			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)		GGTGGACggaggaggtggggg	0.692																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(619-621)Gga>Tga		protocadherin 10							32.0	32.0	32.0					4																	134071914		2203	4297	6500	SO:0001587	stop_gained	57575	0	0					g.chr4:134071914G>T	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.619G>T	chr4.hg19:g.134071914G>T	ENSP00000264360:p.Gly207*	0					RP11-9G1.3_ENST00000505289.1_lincRNA	p.G207*	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	1445	+			Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	0	1	hg19	c.619G>T	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.398851	0.99556	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.42	4.42	0.53409	4.42	4.42	0.53409	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8044	0.85622	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264360:G207X	G	+	1	0	0	PCDH10	134291364	134291364	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.435000	0.90297	2.261000	0.74972	0.561000	0.74099	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_032961			71	68		255	243	1		1			0	0	66	0		1	0	0	0	0	0	0	71	255
PCDH10	57575	broad.mit.edu	37	4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	411	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)			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)		CCTTTAAGAATTACTACACCA	0.607																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(1231-1233)aaT>aaG		protocadherin 10							152.0	161.0	158.0					4																	134072528		2203	4300	6503	SO:0001583	missense	57575	0	0					g.chr4:134072528T>G	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.1233T>G	chr4.hg19:g.134072528T>G	ENSP00000264360:p.Asn411Lys	0					RP11-9G1.3_ENST00000505289.1_lincRNA	p.N411K	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	2059	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.1233T>G	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806162	0.50421	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.68	0.389	0.16269	4.68	0.389	0.16269	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.07593	0.0191	M	0.78223	2.4	0.52501	D	0.999956	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.838	T	0.03619	-1.1019	10	0.51188	T	0.08	.	8.2866	0.31932	0.0:0.6128:0.0:0.3872	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	411	ENSP00000264360:N411K	ENSP00000264360:N411K	N	+	3	2	2	PCDH10	134291978	134291978	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	0.404000	0.20999	0.110000	0.17919	0.459000	0.35465	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1		2	2	2	0		0	0	244		244	235	1	2.060000	-20.000000	1	0.170000	NM_032961			248	247		1189	1165	1		1			0	0	244	0		1	0	0	0	0	0	0	248	1189
PCDH10	57575	broad.mit.edu	37	4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	593	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)			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)		CTGCCCCGCTCGGCGGAGCCG	0.657																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(1777-1779)tCg>tTg		protocadherin 10							20.0	23.0	22.0					4																	134073073		2081	4169	6250	SO:0001583	missense	57575	1	119858	32				g.chr4:134073073C>T	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.1778C>T	chr4.hg19:g.134073073C>T	ENSP00000264360:p.Ser593Leu	0					RP11-9G1.3_ENST00000505289.1_lincRNA	p.S593L	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	2604	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.1778C>T	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829921	0.50845	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39997	1.05	4.5	4.5	0.54988	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	0.000000	0.40144	N	0.001165	T	0.34745	0.0908	L	0.41236	1.265	0.49299	D	0.999777	P;B	0.38455	0.632;0.258	B;B	0.34346	0.18;0.076	T	0.19224	-1.0312	10	0.34782	T	0.22	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	593;593	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	593	ENSP00000264360:S593L	ENSP00000264360:S593L	S	+	2	0	0	PCDH10	134292523	134292523	0.000000	0.05858	1.000000	0.80357	0.413000	0.31143	0.592000	0.23984	2.325000	0.78763	0.655000	0.94253	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	1		19	2	2	1		1	1	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_032961			71	69		278	273	1		1			1	0	60	0		1	0	0	0	0	0	0	71	278
PCDH10	57575	broad.mit.edu	37	4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	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)			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)		GGTGGATGGCGCCGTGGAGCC	0.716																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(2044-2046)Gcc>Acc		protocadherin 10							21.0	27.0	25.0					4																	134073339		2191	4276	6467	SO:0001583	missense	57575	0	0					g.chr4:134073339G>A	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.2044G>A	chr4.hg19:g.134073339G>A	ENSP00000264360:p.Ala682Thr	0						p.A682T	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	2870	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.2044G>A	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658915	0.03454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.62	3.78	0.43462	4.62	3.78	0.43462	Cadherin (1);	0.000000	0.44902	D	0.000401	T	0.24890	0.0604	N	0.19112	0.55	0.35519	D	0.801305	P;P	0.35612	0.491;0.512	B;B	0.26416	0.028;0.069	T	0.27088	-1.0084	10	0.27082	T	0.32	.	6.9938	0.24769	0.0899:0.0:0.7385:0.1716	.	682;682	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	682	ENSP00000264360:A682T	ENSP00000264360:A682T	A	+	1	0	0	PCDH10	134292789	134292789	0.569000	0.26643	0.191000	0.23289	0.012000	0.07955	1.811000	0.38942	1.171000	0.42768	-0.136000	0.14681	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_032961			62	62		226	223	0		1			0	0	36	0		1	0	0	0	0	0	0	62	226
PCDH10	57575	broad.mit.edu	37	4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GGTGTCCTTCATCTTCCTGCT	0.592																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(2182-2184)Atc>Gtc		protocadherin 10							93.0	104.0	100.0					4																	134073477		2203	4300	6503	SO:0001583	missense	57575	0	0					g.chr4:134073477A>G	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.2182A>G	chr4.hg19:g.134073477A>G	ENSP00000264360:p.Ile728Val	0						p.I728V	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		1	3008	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.2182A>G	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470172	0.26423	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	3.29	0.37713	4.48	3.29	0.37713	.	0.170949	0.28706	N	0.014403	T	0.28466	0.0704	N	0.13299	0.325	0.51012	D	0.999904	B;B	0.12013	0.005;0.004	B;B	0.19946	0.012;0.027	T	0.04551	-1.0943	10	0.24483	T	0.36	.	9.7391	0.40406	0.9168:0.0:0.0832:0.0	.	728;728	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	728	ENSP00000264360:I728V	ENSP00000264360:I728V	I	+	1	0	0	PCDH10	134292927	134292927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	0.750000	0.32877	0.459000	0.35465	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_032961			100	97		372	366	1		1	0		0	0	81	0		1	4.575616e-02	0	0	0	2	0	100	372
PCDH10	57575	broad.mit.edu	37	4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	946					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GAATGTAAAGCTCTGGGCCAC	0.483																																						ENST00000264360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				136						c.(2836-2838)gCt>gAt		protocadherin 10							181.0	152.0	162.0					4																	134084171		2203	4300	6503	SO:0001583	missense	57575	0	0					g.chr4:134084171C>A	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.2837C>A	chr4.hg19:g.134084171C>A	ENSP00000264360:p.Ala946Asp	0						p.A946D	NM_032961.1	NP_116586.1	1	2	3	1.998139	Q9P2E7	PCD10_HUMAN		4	3663	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.2837C>A	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889390	0.91889	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.36268	N	0.002697	T	0.58821	0.2149	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59726	-0.7400	10	0.51188	T	0.08	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	946	Q9P2E7	PCD10_HUMAN	D	946	ENSP00000264360:A946D	ENSP00000264360:A946D	A	+	2	0	0	PCDH10	134303621	134303621	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	7.278000	0.78587	2.717000	0.92951	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_032961			68	68		383	376	1		1	0		0	0	77	0		1	0	0	0	0	1	0	68	383
PCDH18	54510	broad.mit.edu	37	4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000344876.4	-	4	3382	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	999	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)			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)					TGATGTGCTGGTATCCCCAGT	0.517																																						ENST00000344876.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(2995-2997)aCc>aTc		protocadherin 18							88.0	76.0	80.0					4																	138442595		2203	4300	6503	SO:0001583	missense	54510	2	121408	31				g.chr4:138442595G>A	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.2996C>T	chr4.hg19:g.138442595G>A	ENSP00000355082:p.Thr999Ile	0					PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I	p.T999I	NM_019035.3	NP_061908.1	1	2	3	1.998139	Q9HCL0	PCD18_HUMAN		4	3382	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	1	1	hg19	c.2996C>T	CCDS34064.1	1	.	.	.	.	.	.	.	.	.	.	G	4.669	0.124348	0.08931	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53640	0.7;0.7;0.61;1.54;1.53	4.97	2.2	0.27929	4.97	2.2	0.27929	.	0.818812	0.10144	N	0.710525	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.017;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.003;0.005;0.004	T	0.26643	-1.0097	10	0.38643	T	0.18	.	5.217	0.15348	0.0705:0.1278:0.5378:0.2639	.	179;778;998;999	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	I	999;998;778;210;179	ENSP00000355082:T999I;ENSP00000390688:T998I;ENSP00000425903:T778I;ENSP00000424269:T210I;ENSP00000425647:T179I	ENSP00000355082:T999I	T	-	2	0	0	PCDH18	138662045	138662045	0.001000	0.12720	0.019000	0.16419	0.673000	0.39480	0.586000	0.23894	0.118000	0.18165	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_019035			71	71		299	291	1		1	0		0	0	59	0		1	9.999544e-01	0	0	0	64	0	71	299
PCDH18	54510	broad.mit.edu	37	4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T	rs202041043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000344876.4	-	1	2287	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	634	Cadherin 6. {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)			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)					GTCACATGATCGTGGATCAAT	0.438																																						ENST00000344876.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1900-1902)cGa>cAa		protocadherin 18							224.0	197.0	206.0					4																	138451342		2203	4300	6503	SO:0001583	missense	54510	2	121410	43				g.chr4:138451342C>T	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.1901G>A	chr4.hg19:g.138451342C>T	ENSP00000355082:p.Arg634Gln	0					PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron	p.R634Q	NM_019035.3	NP_061908.1	1	2	3	1.998139	Q9HCL0	PCD18_HUMAN		1	2287	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	1	1	hg19	c.1901G>A	CCDS34064.1	1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594153	0.28445	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	5.93	2.81	0.32909	5.93	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.249600	0.20560	N	0.089923	T	0.32496	0.0831	L	0.38733	1.17	0.09310	N	0.999995	B;B;B	0.20671	0.023;0.003;0.047	B;B;B	0.17098	0.012;0.003;0.017	T	0.14839	-1.0458	10	0.25106	T	0.35	.	6.8418	0.23967	0.0:0.5662:0.0:0.4338	.	414;634;634	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	634;634;414	ENSP00000355082:R634Q;ENSP00000390688:R634Q;ENSP00000425903:R414Q	ENSP00000355082:R634Q	R	-	2	0	0	PCDH18	138670792	138670792	0.001000	0.12720	0.964000	0.40570	0.992000	0.81027	1.013000	0.29937	0.791000	0.33826	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1		2	2	2	0		0	0	210		210	210	1	2.060000	-3.452284	1	0.170000	NM_019035			223	217		909	895	1		1	0		0	0	210	0		1	9.999403e-01	0	0	0	58	0	223	909
PCDH18	54510	broad.mit.edu	37	4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000344876.4	-	1	1578	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 4. {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)			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)					CCATGAAGCTTACAAACTATT	0.343																																						ENST00000344876.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(1192-1194)Aag>Gag		protocadherin 18							95.0	101.0	99.0					4																	138452051		2203	4300	6503	SO:0001583	missense	54510	0	0					g.chr4:138452051T>C	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.1192A>G	chr4.hg19:g.138452051T>C	ENSP00000355082:p.Lys398Glu	0					PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron	p.K398E	NM_019035.3	NP_061908.1	1	2	3	1.998139	Q9HCL0	PCD18_HUMAN		1	1578	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	1	1	hg19	c.1192A>G	CCDS34064.1	1	.	.	.	.	.	.	.	.	.	.	T	9.072	0.997051	0.19043	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	6.03	6.03	0.97812	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.146640	0.30593	N	0.009295	T	0.29749	0.0743	N	0.03967	-0.31	0.80722	D	1	B;B;B	0.33022	0.108;0.006;0.394	B;B;B	0.37015	0.153;0.016;0.239	T	0.25502	-1.0130	10	0.21540	T	0.41	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	178;398;398	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	398;398;178	ENSP00000355082:K398E;ENSP00000390688:K398E;ENSP00000425903:K178E	ENSP00000355082:K398E	K	-	1	0	0	PCDH18	138671501	138671501	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.823000	0.62694	2.313000	0.78055	0.455000	0.32223	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_019035			88	85		378	372	1		1	0		0	0	92	0		1	9.998875e-01	0	0	0	59	0	88	378
PCDH18	54510	broad.mit.edu	37	4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000344876.4	-	1	1305	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)					TTGAAAAGAGTCAAATGTCCT	0.378																																						ENST00000344876.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(919-921)Act>Cct		protocadherin 18							36.0	40.0	39.0					4																	138452324		2201	4299	6500	SO:0001583	missense	54510	0	0					g.chr4:138452324T>G	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.919A>C	chr4.hg19:g.138452324T>G	ENSP00000355082:p.Thr307Pro	0					PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000510305.1_Intron	p.T307P	NM_019035.3	NP_061908.1	1	2	3	1.998139	Q9HCL0	PCD18_HUMAN		1	1305	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	1	1	hg19	c.919A>C	CCDS34064.1	1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387495	0.42308	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.53;0.53;0.53	5.89	5.89	0.94794	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.81513	0.4838	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.86612	0.1873	10	0.52906	T	0.07	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	87;307;307	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	307;307;87	ENSP00000355082:T307P;ENSP00000390688:T307P;ENSP00000425903:T87P	ENSP00000355082:T307P	T	-	1	0	0	PCDH18	138671774	138671774	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.093000	0.71422	2.250000	0.74265	0.455000	0.32223	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-19.999900	1	0.170000	NM_019035			43	43		203	201	1		1	0		0	0	52	0		1	9.883998e-01	0	0	0	36	0	43	203
SLC7A11	23657	broad.mit.edu	37	4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	61					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)			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)	GATGAAGATTCCTGCTCCAAT	0.542																																						ENST00000280612.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(181-183)gGa>gTa		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)						139.0	116.0	124.0					4																	139163042		2203	4300	6503	SO:0001583	missense	23657	0	0					g.chr4:139163042C>A	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.182G>T	chr4.hg19:g.139163042C>A	ENSP00000280612:p.Gly61Val	0						p.G61V	NM_014331.3	NP_055146.1	1	2	3	1.998139	Q9UPY5	XCT_HUMAN		1	461	-	all_hematologic(180;0.166)		A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	1	1	hg19	c.182G>T	CCDS3742.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.240873	0.95272	.	.	ENSG00000151012	ENST00000280612	D	0.92911	-3.13	6.03	6.03	0.97812	6.03	6.03	0.97812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	61	Q9UPY5	XCT_HUMAN	V	61	ENSP00000280612:G61V	ENSP00000280612:G61V	G	-	2	0	0	SLC7A11	139382492	139382492	1.000000	0.71417	0.804000	0.32291	0.976000	0.68499	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.325576	1	0.170000				75	74		334	328	1		1	1		0	0	98	0		1	9.998570e-01	0	26	0	34	0	75	334
NAA15	80155	broad.mit.edu	37	4	140270711	140270711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140270711G>T	ENST00000296543.5	+	7	1110	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	263					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTATTACAAAGGCTTGGAAAA	0.343																																						ENST00000296543.5	1.000000	0.260000	8.000000e-01	3.800000e-01	0.550000	0.591983	0.550000	0.520000																										0				29						c.(787-789)Ggc>Tgc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							49.0	46.0	47.0					4																	140270711		1797	4075	5872	SO:0001583	missense	80155	1	120776	33				g.chr4:140270711G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.787G>T	chr4.hg19:g.140270711G>T	ENSP00000296543:p.Gly263Cys	0					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	p.G263C	NM_057175.3	NP_476516.1	1	2	3	1.998139	Q9BXJ9	NAA15_HUMAN		7	1110	+			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	0	1	hg19	c.787G>T	CCDS43270.1	0	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766563	0.90020	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.53857	0.6;0.6	5.44	5.44	0.79542	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.113779	0.64402	D	0.000011	T	0.74176	0.3682	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	T	0.76063	-0.3096	10	0.62326	D	0.03	-5.8465	19.4586	0.94906	0.0:0.0:1.0:0.0	.	263	Q9BXJ9	NAA15_HUMAN	C	263;137;263	ENSP00000296543:G263C;ENSP00000381920:G263C	ENSP00000296543:G263C	G	+	1	0	0	NAA15	140490161	140490161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-10.503360	1	0.170000	NM_057175			8	8		172	167	0		1	1		0	0	24	0		9.886240e-01	9.168857e-01	0	9	0	88	0	8	172
MGST2	4258	broad.mit.edu	37	4	140599697	140599697	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000506797.1_Splice_Site_p.S20N|MGST2_ENST00000515137.1_Intron	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	20					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|leukotriene biosynthetic process (GO:0019370)|oxidation-reduction process (GO:0055114)|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)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Busulfan(DB01008)|Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398																																						ENST00000265498.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				2						c.(58-60)aGt>aAt		microsomal glutathione S-transferase 2	Busulfan(DB01008)|Glutathione(DB00143)						93.0	87.0	89.0					4																	140599697		2203	4300	6503	SO:0001630	splice_region_variant	4258	0	0					g.chr4:140599697G>A	U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7063	protein-coding gene	gene with protein product		601733				8703034	Standard	NM_002413		Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.59-1G>A	chr4.hg19:g.140599697G>A		0					MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20N	p.S20N	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	1	2	3	1.998139	Q99735	MGST2_HUMAN		2	311	+	all_hematologic(180;0.162)		D6RBB5|Q7Z5B8	Splice_Site	SNP	ENST00000265498.1	1	0	hg19	c.59G>A	CCDS3749.1	1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345809	0.41599	.	.	ENSG00000085871	ENST00000265498;ENST00000506797	T;T	0.68765	0.37;-0.35	5.25	-0.316	0.12743	5.25	-0.316	0.12743	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.228496	0.35646	N	0.003078	T	0.49012	0.1532	L	0.52364	1.645	0.29147	N	0.878651	B	0.12630	0.006	B	0.12156	0.007	T	0.21042	-1.0257	9	.	.	.	.	1.4533	0.02380	0.1712:0.1329:0.4008:0.2952	.	20	Q99735	MGST2_HUMAN	N	20	ENSP00000265498:S20N;ENSP00000424278:S20N	.	S	+	2	0	0	MGST2	140819147	140819147	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	0.295000	0.19065	0.185000	0.20105	0.561000	0.74099	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-19.280290	1	0.170000	NM_002413	Missense_Mutation		31	31		136	135	1		1	1		0	0	40	0		1	1	0	58	0	270	0	31	136
MAML3	55534	broad.mit.edu	37	4	140640600	140640600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607																																						ENST00000509479.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				25						c.(3292-3294)ggC>ggT		mastermind-like 3 (Drosophila)							60.0	67.0	65.0					4																	140640600		2172	4285	6457	SO:0001819	synonymous_variant	55534	0	0					g.chr4:140640600G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3294C>T	chr4.hg19:g.140640600G>A		0					MGST2_ENST00000515137.1_Intron	p.G1098G	NM_018717.4	NP_061187	1	2	3	1.998139				5	4150	-	all_hematologic(180;0.162)			Silent	SNP	ENST00000509479.2	1	1	hg19	c.3294C>T	CCDS54805.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2	1	0	1		24	2	2	0		0	1	41		41	41	1	2.060000	-3.320457	1	0.170000				49	49		293	291	1		1	0		0	0	41	0		9.993349e-01	8.742973e-01	0	1	0	23	0	49	293
MAML3	55534	broad.mit.edu	37	4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582																																						ENST00000509479.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1108-1110)tCc>tAc		mastermind-like 3 (Drosophila)							82.0	83.0	83.0					4																	140811481		1991	4177	6168	SO:0001583	missense	55534	0	0					g.chr4:140811481G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1109C>A	chr4.hg19:g.140811481G>T	ENSP00000421180:p.Ser370Tyr	0					MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y|MAML3_ENST00000398940.1_5'Flank	p.S370Y	NM_018717.4	NP_061187	1	2	3	1.998139				2	1965	-	all_hematologic(180;0.162)			Missense_Mutation	SNP	ENST00000509479.2	1	1	hg19	c.1109C>A	CCDS54805.1	1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642178	0.47153	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.195581	0.43919	D	0.000515	T	0.27169	0.0666	L	0.42245	1.32	0.80722	D	1	P	0.44195	0.828	B	0.40101	0.319	T	0.06972	-1.0797	10	0.62326	D	0.03	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	370	Q96JK9	MAML3_HUMAN	Y	370;214	ENSP00000421180:S370Y	ENSP00000313316:S214Y	S	-	2	0	0	MAML3	141030931	141030931	1.000000	0.71417	0.945000	0.38365	0.714000	0.41099	6.123000	0.71614	2.318000	0.78349	0.650000	0.86243	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-3.508440	1	0.170000				88	87		370	360	1		1	1		0	0	86	0		1	8.640067e-01	0	3	0	14	0	88	370
CLGN	1047	broad.mit.edu	37	4	141310389	141310389	+	Nonsense_Mutation	SNP	G	G	A	rs200583755	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	ENST00000325617.5	-	15	2262	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	608					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)			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)					TAGTCCTTTCGTACTCTTCTT	0.373													G|||	8	0.00159744	0.0	0.0	5008	,	,		16077	0.0		0.0	False		,,,				2504	0.0082					ENST00000325617.5	1.000000	0.270000	6.000000e-01	3.500000e-01	0.460000	0.495724	0.460000	0.440000																										0				25						c.(1822-1824)Cga>Tga		calmegin		G	stop/ARG,stop/ARG	4,4402	8.1+/-20.4	0,4,2199	145.0	144.0	144.0		1822,1822	4.3	1.0	4		144	0,8600		0,0,4300	yes	stop-gained,stop-gained	CLGN	NM_001130675.1,NM_004362.2	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	608/611,608/611	141310389	4,13002	2203	4300	6503	SO:0001587	stop_gained	1047	81	121408	50				g.chr4:141310389G>A	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.1822C>T	chr4.hg19:g.141310389G>A	ENSP00000326699:p.Arg608*	0					CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*	p.R608*	NM_004362.2	NP_004353.1	1	2	3	1.998139	O14967	CLGN_HUMAN		15	2262	-	all_hematologic(180;0.162)		B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP	ENST00000325617.5	0	1	hg19	c.1822C>T	CCDS3751.1	0	.	.	.	.	.	.	.	.	.	.	G	38	6.998730	0.97990	9.08E-4	0.0	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	.	.	.	5.22	4.32	0.51571	5.22	4.32	0.51571	.	0.173966	0.37348	N	0.002125	.	.	.	.	.	.	0.31086	N	0.711327	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2011	15.6991	0.77528	0.0:0.0:0.8631:0.1369	.	.	.	.	X	608;608;608;525	.	ENSP00000326699:R608X	R	-	1	2	2	CLGN	141529839	141529839	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	6.257000	0.72480	2.584000	0.87258	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.092922	1	0.170000	NM_004362			16	16		409	404	0		1	0		0	0	61	0		9.999296e-01	9.478533e-02	0	1	0	12	0	16	409
CLGN	1047	broad.mit.edu	37	4	141316994	141316994	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000414773.1_Silent_p.L376L|CLGN_ENST00000537281.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	376					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)			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)					GATTATCGACCAGTGGAGGTC	0.378																																						ENST00000325617.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1126-1128)ctG>ctT		calmegin							103.0	97.0	99.0					4																	141316994		2203	4300	6503	SO:0001819	synonymous_variant	1047	0	0					g.chr4:141316994C>A	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.1128G>T	chr4.hg19:g.141316994C>A		0					CLGN_ENST00000414773.1_Silent_p.L376L|CLGN_ENST00000537281.1_Silent_p.L376L	p.L376L	NM_004362.2	NP_004353.1	1	2	3	1.998139	O14967	CLGN_HUMAN		10	1568	-	all_hematologic(180;0.162)		B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	1	1	hg19	c.1128G>T	CCDS3751.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.342771	1	0.170000	NM_004362			60	58		302	298	1		1	1		0	0	54	0		1	5.162789e-01	0	5	0	5	0	60	302
CLGN	1047	broad.mit.edu	37	4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000414773.1_Missense_Mutation_p.A312V|CLGN_ENST00000537281.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	312					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)			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)					AAGCCAGCCAGCAGGTTTAAC	0.348																																						ENST00000325617.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(934-936)gCt>gTt		calmegin							194.0	187.0	189.0					4																	141317309		2203	4300	6503	SO:0001583	missense	1047	0	0					g.chr4:141317309G>A	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.935C>T	chr4.hg19:g.141317309G>A	ENSP00000326699:p.Ala312Val	0					CLGN_ENST00000414773.1_Missense_Mutation_p.A312V|CLGN_ENST00000537281.1_Missense_Mutation_p.A312V	p.A312V	NM_004362.2	NP_004353.1	1	2	3	1.998139	O14967	CLGN_HUMAN		9	1375	-	all_hematologic(180;0.162)		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	1	1	hg19	c.935C>T	CCDS3751.1	1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106850	0.56291	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50277	0.75;0.75;0.75	5.83	3.32	0.38043	5.83	3.32	0.38043	Calreticulin/calnexin, P (2);	0.379589	0.31461	N	0.007609	T	0.30103	0.0754	N	0.17345	0.48	0.28319	N	0.922337	B	0.02656	0.0	B	0.10450	0.005	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.4273	9.1602	0.37019	0.1194:0.0:0.1338:0.7468	.	312	O14967	CLGN_HUMAN	V	312;312;312;229	ENSP00000326699:A312V;ENSP00000392782:A312V;ENSP00000439381:A312V	ENSP00000326699:A312V	A	-	2	0	0	CLGN	141536759	141536759	0.998000	0.40836	0.997000	0.53966	0.939000	0.58152	4.223000	0.58587	1.045000	0.40225	-0.422000	0.05995	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	0	0	1		2	2	2	1		1	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_004362			195	191		756	747	1		1	1		1	0	145	0		1	5.797250e-01	0	5	0	4	0	195	756
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368																																						ENST00000323570.3	1.000000	0.330000	7.600000e-01	4.300000e-01	0.570000	0.602558	0.570000	0.540000																										0				7						c.(421-423)acG>acA		ELMO/CED-12 domain containing 2							92.0	89.0	90.0					4																	141461345		2203	4300	6503	SO:0001819	synonymous_variant	255520	0	0					g.chr4:141461345G>A	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	chr4.hg19:g.141461345G>A		0						p.T141T	NM_153702.3	NP_714913.1	1	2	3	1.998139	Q8IZ81	ELMD2_HUMAN		6	555	+	all_hematologic(180;0.162)		B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	1	1	hg19	c.423G>A	CCDS3752.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-4.476859	1	0.170000	NM_153702			15	15		305	298	0		1	1		0	0	61	0		9.998595e-01	9.587748e-01	0	5	0	106	0	15	305
ELMOD2	255520	broad.mit.edu	37	4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	203	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328																																						ENST00000323570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(607-609)tCt>tTt		ELMO/CED-12 domain containing 2							124.0	129.0	127.0					4																	141464612		2203	4297	6500	SO:0001583	missense	255520	0	0					g.chr4:141464612C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.608C>T	chr4.hg19:g.141464612C>T	ENSP00000326342:p.Ser203Phe	0						p.S203F	NM_153702.3	NP_714913.1	1	2	3	1.998139	Q8IZ81	ELMD2_HUMAN		8	740	+	all_hematologic(180;0.162)		B2R712|D3DNZ0	Missense_Mutation	SNP	ENST00000323570.3	1	1	hg19	c.608C>T	CCDS3752.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855224	0.71719	.	.	ENSG00000179387	ENST00000323570	T	0.30981	1.51	6.16	6.16	0.99307	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.49607	T	0.09	-1.3426	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q8IZ81	ELMD2_HUMAN	F	203	ENSP00000326342:S203F	ENSP00000326342:S203F	S	+	2	0	0	ELMOD2	141684062	141684062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.937000	0.99478	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_153702			84	83		449	445	1		1	1		0	0	141	0		1	9.999989e-01	0	26	0	80	0	84	449
UCP1	7350	broad.mit.edu	37	4	141483492	141483492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141483492C>T	ENST00000262999.3	-	5	739	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	222					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CAAAATCCAGCGATAAGAGCC	0.463																																						ENST00000262999.3	1.000000	0.200000	5.800000e-01	2.900000e-01	0.410000	0.452517	0.410000	0.390000																										0				16						c.(664-666)Gct>Act		uncoupling protein 1 (mitochondrial, proton carrier)							96.0	88.0	90.0					4																	141483492		2203	4300	6503	SO:0001583	missense	7350	0	0					g.chr4:141483492C>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.664G>A	chr4.hg19:g.141483492C>T	ENSP00000262999:p.Ala222Thr	0						p.A222T	NM_021833.4	NP_068605.1	1	2	3	1.998139	P25874	UCP1_HUMAN		5	739	-	all_hematologic(180;0.162)		Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	0	1	hg19	c.664G>A	CCDS3753.1	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665467	0.88251	.	.	ENSG00000109424	ENST00000262999	D	0.87103	-2.21	5.83	5.83	0.93111	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.94187	0.7437	10	0.62326	D	0.03	.	17.6254	0.88092	0.0:1.0:0.0:0.0	.	221;222	Q4KMT7;P25874	.;UCP1_HUMAN	T	222	ENSP00000262999:A222T	ENSP00000262999:A222T	A	-	1	0	0	UCP1	141702942	141702942	1.000000	0.71417	0.848000	0.33437	0.415000	0.31203	7.333000	0.79214	2.773000	0.95371	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1	0	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.735168	1	0.170000				10	10		293	290	0		1			0	0	51	0		9.968543e-01	0	0	0	0	0	0	10	293
TBC1D9	23158	broad.mit.edu	37	4	141543376	141543376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1258							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				AGATTTCATAGTCACTGGCCG	0.552																																						ENST00000442267.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3772-3774)gaC>gaT		TBC1 domain family, member 9 (with GRAM domain)							67.0	67.0	67.0					4																	141543376		1881	4119	6000	SO:0001819	synonymous_variant	23158	0	0					g.chr4:141543376G>A	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.3774C>T	chr4.hg19:g.141543376G>A		0						p.D1258D	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		21	3848	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	1	1	hg19	c.3774C>T	CCDS47136.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_015130			70	69		375	363	1		1	1		0	0	82	0		1	9.999942e-01	0	8	0	87	0	70	375
TBC1D9	23158	broad.mit.edu	37	4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1113							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				CTGGCCGGCAGGGGCTCAACA	0.672																																						ENST00000442267.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3337-3339)Ctg>Atg		TBC1 domain family, member 9 (with GRAM domain)							32.0	39.0	36.0					4																	141543813		2004	4155	6159	SO:0001583	missense	23158	0	0					g.chr4:141543813G>T	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.3337C>A	chr4.hg19:g.141543813G>T	ENSP00000411197:p.Leu1113Met	0						p.L1113M	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		21	3411	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	1	1	hg19	c.3337C>A	CCDS47136.1	1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040286	0.08148	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	4.86	4.01	0.46588	4.86	4.01	0.46588	.	.	.	.	.	T	0.36799	0.0980	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.31308	-0.9948	9	0.38643	T	0.18	.	4.3356	0.11085	0.2044:0.2051:0.5906:0.0	.	1113	Q6ZT07	TBCD9_HUMAN	M	1113	ENSP00000411197:L1113M	ENSP00000411197:L1113M	L	-	1	2	2	TBC1D9	141763263	141763263	0.965000	0.33210	0.285000	0.24819	0.513000	0.34164	3.633000	0.54295	1.018000	0.39521	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1		2	2	2	0		0	0	50		50	47	1	2.060000	-20.000000	1	0.170000	NM_015130			53	52		274	267	1		1	1		0	0	50	0		1	9.999938e-01	0	10	0	84	0	53	274
TBC1D9	23158	broad.mit.edu	37	4	141543992	141543992	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543992G>A	ENST00000442267.2	-	21	3232	c.3158C>T	c.(3157-3159)aCg>aTg	p.T1053M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1053							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				CACTGCTGCCGTGGCGTGGTA	0.567																																						ENST00000442267.2	1.000000	0.190000	9.300000e-01	3.500000e-01	0.580000	0.613209	0.580000	1.000000																										0				31						c.(3157-3159)aCg>aTg		TBC1 domain family, member 9 (with GRAM domain)							29.0	30.0	30.0					4																	141543992		2056	4228	6284	SO:0001583	missense	23158	2	120904	29				g.chr4:141543992G>A	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.3158C>T	chr4.hg19:g.141543992G>A	ENSP00000411197:p.Thr1053Met	0						p.T1053M	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		21	3232	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	0	1	hg19	c.3158C>T	CCDS47136.1	0	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721948	0.68959	.	.	ENSG00000109436	ENST00000442267	T	0.66460	-0.21	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.48738	0.588	T	0.74478	-0.3652	10	0.72032	D	0.01	.	18.9312	0.92566	0.0:0.0:1.0:0.0	.	1053	Q6ZT07	TBCD9_HUMAN	M	1053	ENSP00000411197:T1053M	ENSP00000411197:T1053M	T	-	2	0	0	TBC1D9	141763442	141763442	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	8.032000	0.88838	2.461000	0.83175	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-7.737441	1	0.170000	NM_015130			4	4		87	86	0		1	1		0	0	10	0		8.893521e-01	8.893521e-01	0	3	0	87	0	4	87
TBC1D9	23158	broad.mit.edu	37	4	141578910	141578910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	660	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				CAGTCGTACAGCTGTGGGACG	0.517																																						ENST00000442267.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1978-1980)Ctg>Ttg		TBC1 domain family, member 9 (with GRAM domain)							197.0	195.0	196.0					4																	141578910		2124	4239	6363	SO:0001819	synonymous_variant	23158	0	0					g.chr4:141578910G>A	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.1978C>T	chr4.hg19:g.141578910G>A		0						p.L660L	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		12	2052	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	1	1	hg19	c.1978C>T	CCDS47136.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-20.000000	1	0.170000	NM_015130			145	142		614	607	1		1	1		0	0	183	0		1	1	0	6	0	100	0	145	614
TBC1D9	23158	broad.mit.edu	37	4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	509							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				ACCAGCTCCCGCGTTTTCTCT	0.562																																						ENST00000442267.2	1.000000	0.670000	1	8.600000e-01	0.990000	0.952900	0.990000	1.000000																										0				31						c.(1525-1527)Cgg>Tgg		TBC1 domain family, member 9 (with GRAM domain)							47.0	55.0	52.0					4																	141590134		2164	4280	6444	SO:0001583	missense	23158	3	121216	34				g.chr4:141590134G>A	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.1525C>T	chr4.hg19:g.141590134G>A	ENSP00000411197:p.Arg509Trp	0						p.R509W	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		9	1599	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	1	1	hg19	c.1525C>T	CCDS47136.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325543	0.81580	.	.	ENSG00000109436	ENST00000442267	T	0.05258	3.47	5.61	5.61	0.85477	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.106323	0.64402	D	0.000006	T	0.23965	0.0580	M	0.79475	2.455	0.51767	D	0.999934	D	0.76494	0.999	D	0.63957	0.92	T	0.00073	-1.2127	10	0.72032	D	0.01	-8.8656	14.7148	0.69259	0.0:0.0:0.8214:0.1786	.	509	Q6ZT07	TBCD9_HUMAN	W	509	ENSP00000411197:R509W	ENSP00000411197:R509W	R	-	1	2	2	TBC1D9	141809584	141809584	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	3.861000	0.56002	2.793000	0.96121	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-19.999980	1	0.170000	NM_015130			18	18		179	175	0		1	1		0	0	36	0		9.999831e-01	9.947844e-01	0	2	0	86	0	18	179
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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)				CTCTGCACTAGAAAGTCTCTA	0.453																																						ENST00000442267.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1171-1173)Cta>Ata		TBC1 domain family, member 9 (with GRAM domain)							151.0	151.0	151.0					4																	141591969		1905	4113	6018	SO:0001583	missense	23158	0	0					g.chr4:141591969G>T	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.1171C>A	chr4.hg19:g.141591969G>T	ENSP00000411197:p.Leu391Ile	0						p.L391I	NM_015130.2	NP_055945.2	1	2	3	1.998139	Q6ZT07	TBCD9_HUMAN		7	1245	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	1	1	hg19	c.1171C>A	CCDS47136.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414502	0.83449	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.45	3.61	0.41365	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.79475	2.455	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.02294	-1.1181	10	0.49607	T	0.09	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	I	391	ENSP00000411197:L391I	ENSP00000411197:L391I	L	-	1	2	2	TBC1D9	141811419	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	0	1		15	3	2	1		1	1	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_015130			91	90		444	438	1		1	1		1	0	129	0		1	9.939987e-01	0	3	0	47	0	91	444
INPP4B	8821	broad.mit.edu	37	4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	843					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)			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)					TTGGCACTTTTACAACAGGTG	0.418																																						ENST00000513000.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				58						c.(2527-2529)Aaa>Gaa		inositol polyphosphate-4-phosphatase, type II, 105kDa							161.0	140.0	147.0					4																	143003299		2203	4300	6503	SO:0001583	missense	8821	0	0					g.chr4:143003299T>C	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.2527A>G	chr4.hg19:g.143003299T>C	ENSP00000425487:p.Lys843Glu	0					INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	p.K843E	NM_003866.2	NP_003857.2	1	2	3	1.998139	O15327	INP4B_HUMAN		26	2960	-	all_hematologic(180;0.158)		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	1	1	hg19	c.2527A>G	CCDS3757.1	1	.	.	.	.	.	.	.	.	.	.	T	30	5.051655	0.93793	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.47;1.51	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71017	-0.4714	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	843	O15327	INP4B_HUMAN	E	843;843;843;843;843;658	ENSP00000425487:K843E;ENSP00000262992:K843E;ENSP00000308441:K843E;ENSP00000423954:K843E;ENSP00000422793:K843E;ENSP00000426207:K658E	ENSP00000262992:K843E	K	-	1	0	0	INPP4B	143222749	143222749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.232000	0.73038	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_003866			48	47		276	276	1		1	1		0	0	53	0		1	1	0	64	0	93	0	48	276
USP38	84640	broad.mit.edu	37	4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	999					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428																																						ENST00000307017.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2995-2997)gCc>gTc		ubiquitin specific peptidase 38							63.0	67.0	66.0					4																	144141476		2203	4300	6503	SO:0001583	missense	84640	0	0					g.chr4:144141476C>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2996C>T	chr4.hg19:g.144141476C>T	ENSP00000303434:p.Ala999Val	0						p.A999V	NM_032557.5	NP_115946.2	1	2	3	1.998139	Q8NB14	UBP38_HUMAN		10	3502	+	all_hematologic(180;0.158)		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	1	1	hg19	c.2996C>T	CCDS3758.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922702	0.92319	.	.	ENSG00000170185	ENST00000307017	T	0.09911	2.93	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00115	-1.2039	10	0.37606	T	0.19	-10.3075	20.2043	0.98273	0.0:1.0:0.0:0.0	.	999	Q8NB14	UBP38_HUMAN	V	999	ENSP00000303434:A999V	ENSP00000303434:A999V	A	+	2	0	0	USP38	144360926	144360926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.779000	0.95612	0.591000	0.81541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_032557			64	62		301	295	1		1	1		0	0	70	0		1	9.999998e-01	0	24	0	84	0	64	301
SMARCA5	8467	broad.mit.edu	37	4	144449155	144449155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		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)					AAGCTCACAGGATCAAAAATG	0.264																																						ENST00000283131.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									EWSR1/SMARCA5(2)	0				21						c.(934-936)agG>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							42.0	45.0	44.0					4																	144449155		2199	4294	6493	SO:0001819	synonymous_variant	8467	0	0					g.chr4:144449155G>A	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.936G>A	chr4.hg19:g.144449155G>A		0						p.R312R	NM_003601.3	NP_003592.3	1	2	3	1.998139	O60264	SMCA5_HUMAN		7	1398	+	all_hematologic(180;0.158)			Silent	SNP	ENST00000283131.3	1	1	hg19	c.936G>A	CCDS3761.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				43	42		183	181	1		1	1		0	0	48	0		1	1	0	46	0	134	0	43	183
HHIP	64399	broad.mit.edu	37	4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.D143G	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	143					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)			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)		CTCTGCAAAGACTATTGCAAA	0.393																																						ENST00000296575.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(427-429)gAc>gGc		hedgehog interacting protein							121.0	130.0	127.0					4																	145573905		2203	4300	6503	SO:0001583	missense	64399	0	0					g.chr4:145573905A>G	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.428A>G	chr4.hg19:g.145573905A>G	ENSP00000296575:p.Asp143Gly	0					HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP-AS1_ENST00000512359.1_RNA	p.D143G	NM_022475.2	NP_071920.1	1	2	3	1.998139	Q96QV1	HHIP_HUMAN		2	1083	+	all_hematologic(180;0.151)		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	1	1	hg19	c.428A>G	CCDS3762.1	1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839939	0.91117	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	-1.22;-1.22	5.83	5.83	0.93111	5.83	5.83	0.93111	Folate receptor-like (1);	0.043571	0.85682	D	0.000000	D	0.86781	0.6015	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.291	D;B	0.63113	0.911;0.091	D	0.87923	0.2705	10	0.62326	D	0.03	-27.2646	16.2127	0.82178	1.0:0.0:0.0:0.0	.	143;143	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	G	143	ENSP00000296575:D143G;ENSP00000408587:D143G	ENSP00000296575:D143G	D	+	2	0	0	HHIP	145793355	145793355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.236000	0.73375	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000				84	83		471	468	1		1	1		0	0	127	0		1	6.089937e-01	0	4	0	9	0	84	471
HHIP	64399	broad.mit.edu	37	4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	467					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)			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)		GAATTCTACAGATAATAAAGG	0.338																																						ENST00000296575.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1399-1401)caG>caT		hedgehog interacting protein							124.0	124.0	124.0					4																	145633201		2203	4300	6503	SO:0001583	missense	64399	0	0					g.chr4:145633201G>T	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.1401G>T	chr4.hg19:g.145633201G>T	ENSP00000296575:p.Gln467His	0						p.Q467H	NM_022475.2	NP_071920.1	1	2	3	1.998139	Q96QV1	HHIP_HUMAN		8	2056	+	all_hematologic(180;0.151)		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	1	1	hg19	c.1401G>T	CCDS3762.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460855	0.26248	.	.	ENSG00000164161	ENST00000296575	T	0.05786	3.39	5.74	3.08	0.35506	5.74	3.08	0.35506	Six-bladed beta-propeller, TolB-like (1);	0.051730	0.85682	D	0.000000	T	0.05960	0.0155	L	0.51422	1.61	0.80722	D	1	P	0.38788	0.647	B	0.34452	0.183	T	0.41142	-0.9525	10	0.36615	T	0.2	-10.7005	7.1988	0.25868	0.1943:0.0:0.6819:0.1238	.	467	Q96QV1	HHIP_HUMAN	H	467	ENSP00000296575:Q467H	ENSP00000296575:Q467H	Q	+	3	2	2	HHIP	145852651	145852651	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.660000	0.46749	0.769000	0.33313	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000				101	100		462	459	1		1	0		0	0	106	0		1	5.607832e-01	0	1	0	9	0	101	462
HHIP	64399	broad.mit.edu	37	4	145635402	145635402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	483					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)			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)		TTTTAGAATTCAAGCCATTCA	0.378																																						ENST00000296575.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				33						c.(1447-1449)ttC>ttT		hedgehog interacting protein							124.0	115.0	118.0					4																	145635402		2203	4300	6503	SO:0001819	synonymous_variant	64399	0	0					g.chr4:145635402C>T	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.1449C>T	chr4.hg19:g.145635402C>T		0						p.F483F	NM_022475.2	NP_071920.1	1	2	3	1.998139	Q96QV1	HHIP_HUMAN		9	2104	+	all_hematologic(180;0.151)		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	1	1	hg19	c.1449C>T	CCDS3762.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.284957	1	0.170000				32	31		160	156	1		1	0		0	0	79	0		1	2.724200e-01	0	1	0	5	0	32	160
HHIP	64399	broad.mit.edu	37	4	145658990	145658990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145658990C>T	ENST00000296575.3	+	13	2639	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	662	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)		AAAAGGATATCTTGGTCCTCA	0.448																																						ENST00000296575.3	1.000000	0.220000	5.400000e-01	3.000000e-01	0.400000	0.441295	0.400000	0.390000																										0				33						c.(1984-1986)Ctt>Ttt		hedgehog interacting protein							162.0	138.0	146.0					4																	145658990		2203	4300	6503	SO:0001583	missense	64399	0	0					g.chr4:145658990C>T	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.1984C>T	chr4.hg19:g.145658990C>T	ENSP00000296575:p.Leu662Phe	0						p.L662F	NM_022475.2	NP_071920.1	1	2	3	1.998139	Q96QV1	HHIP_HUMAN		13	2639	+	all_hematologic(180;0.151)		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	1	1	hg19	c.1984C>T	CCDS3762.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111178	0.77210	.	.	ENSG00000164161	ENST00000296575	T	0.66995	-0.24	5.61	5.61	0.85477	5.61	5.61	0.85477	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.099589	0.64402	D	0.000020	T	0.43344	0.1243	N	0.02539	-0.55	0.80722	D	1	P	0.46020	0.871	B	0.41723	0.365	T	0.57093	-0.7870	10	0.62326	D	0.03	-14.2584	12.9061	0.58154	0.0:0.9257:0.0:0.0743	.	662	Q96QV1	HHIP_HUMAN	F	662	ENSP00000296575:L662F	ENSP00000296575:L662F	L	+	1	0	0	HHIP	145878440	145878440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.634000	0.89283	0.585000	0.79938	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	0	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-12.765220	1	0.170000				13	13		386	377	0		1	0		0	0	106	0		9.994782e-01	0	0	0	0	1	0	13	386
ABCE1	6059	broad.mit.edu	37	4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	235	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358																																						ENST00000296577.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(703-705)Gct>Act		ATP-binding cassette, sub-family E (OABP), member 1							135.0	120.0	125.0					4																	146032209		2203	4300	6503	SO:0001583	missense	6059	0	0					g.chr4:146032209G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.703G>A	chr4.hg19:g.146032209G>A	ENSP00000296577:p.Ala235Thr	0					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	p.A235T	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	1	2	3	1.998139	P61221	ABCE1_HUMAN		8	1218	+	all_hematologic(180;0.151)		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	1	1	hg19	c.703G>A	CCDS34071.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826680	0.90955	.	.	ENSG00000164163	ENST00000296577	D	0.85339	-1.97	5.45	5.45	0.79879	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	D	0.85299	0.1072	10	0.54805	T	0.06	-38.6729	19.6512	0.95812	0.0:0.0:1.0:0.0	.	235	P61221	ABCE1_HUMAN	T	235	ENSP00000296577:A235T	ENSP00000296577:A235T	A	+	1	0	0	ABCE1	146251659	146251659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.712000	0.92718	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_002940			49	49		220	213	1		1	1		0	0	65	0		1	1	0	101	0	202	0	49	220
ABCE1	6059	broad.mit.edu	37	4	146044705	146044705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	531	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338																																						ENST00000296577.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				18						c.(1591-1593)cgC>cgT		ATP-binding cassette, sub-family E (OABP), member 1							69.0	64.0	66.0					4																	146044705		2203	4298	6501	SO:0001819	synonymous_variant	6059	0	0					g.chr4:146044705C>T	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1593C>T	chr4.hg19:g.146044705C>T		0					OTUD4_ENST00000455611.2_Intron	p.R531R	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	1	2	3	1.998139	P61221	ABCE1_HUMAN		16	2108	+	all_hematologic(180;0.151)		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	ENST00000296577.4	0	1	hg19	c.1593C>T	CCDS34071.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-17.677030	1	0.170000	NM_002940			29	29		134	133	1		1	1		0	0	23	0		1	1	0	50	0	128	0	29	134
OTUD4	54726	broad.mit.edu	37	4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000447906.2	-	21	3357	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	OTUD4_ENST00000454497.2_Missense_Mutation_p.G992D|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1057					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413																																						ENST00000447906.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(3169-3171)gGc>gAc		OTU deubiquitinase 4							242.0	236.0	238.0					4																	146058757		2203	4300	6503	SO:0001583	missense	54726	0	0					g.chr4:146058757C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3170G>A	chr4.hg19:g.146058757C>T	ENSP00000395487:p.Gly1057Asp	0					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.G992D	p.G1057D			1	2	3	1.998139	Q01804	OTUD4_HUMAN		21	3357	-	all_hematologic(180;0.151)		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	1	1	hg19	c.3170G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840269	0.32513	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.36;1.35	6.17	5.29	0.74685	6.17	5.29	0.74685	.	0.324146	0.30859	N	0.008727	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.40940	0.344;0.186	T	0.01675	-1.1298	10	0.51188	T	0.08	-5.5415	10.4324	0.44415	0.0:0.7961:0.1351:0.0688	.	1057;1056	G3V0I6;Q01804	.;OTUD4_HUMAN	D	992;1057	ENSP00000409279:G992D;ENSP00000395487:G1057D	ENSP00000395487:G1057D	G	-	2	0	0	OTUD4	146278207	146278207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.756000	0.47549	2.941000	0.99782	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	1	0	1		2	2	2	0		0	0	223		223	222	1	2.060000	-20.000000	1	0.170000	NM_017493			224	220		975	956	1		1	1		0	0	223	0		1	1	0	35	0	91	0	224	975
OTUD4	54726	broad.mit.edu	37	4	146064545	146064545	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146064545T>G	ENST00000447906.2	-	17	1842	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	OTUD4_ENST00000454497.2_Missense_Mutation_p.K487T|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	552					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACTCTAACTTCTTTGACTT	0.373																																						ENST00000447906.2	1.000000	0.240000	7.000000e-01	3.500000e-01	0.490000	0.533323	0.490000	0.460000																										0				33						c.(1654-1656)aAg>aCg		OTU deubiquitinase 4							109.0	103.0	105.0					4																	146064545		2203	4300	6503	SO:0001583	missense	54726	0	0					g.chr4:146064545T>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1655A>C	chr4.hg19:g.146064545T>G	ENSP00000395487:p.Lys552Thr	0					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.K487T	p.K552T			1	2	3	1.998139	Q01804	OTUD4_HUMAN		17	1842	-	all_hematologic(180;0.151)		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	1	1	hg19	c.1655A>C		0	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786624	0.49997	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.33438	1.42;1.41	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.171326	0.42420	D	0.000705	T	0.25606	0.0623	L	0.32530	0.975	0.80722	D	1	B;B	0.14805	0.011;0.007	B;B	0.19391	0.025;0.011	T	0.03818	-1.1001	10	0.37606	T	0.19	-24.0895	12.7861	0.57507	0.0:0.0:0.0:1.0	.	552;551	G3V0I6;Q01804	.;OTUD4_HUMAN	T	487;552	ENSP00000409279:K487T;ENSP00000395487:K552T	ENSP00000395487:K552T	K	-	2	0	0	OTUD4	146283995	146283995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.639000	0.37176	2.281000	0.76405	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-11.113140	1	0.170000	NM_017493			9	9		218	211	0		1	1		0	0	42	0		9.936412e-01	7.922667e-01	0	3	0	70	0	9	218
C4orf51	646603	broad.mit.edu	37	4	146601532	146601532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428																																						ENST00000438731.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(175-177)aaG>aaA		chromosome 4 open reading frame 51							103.0	101.0	101.0					4																	146601532		1954	4153	6107	SO:0001819	synonymous_variant	646603	0	0					g.chr4:146601532G>A		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.177G>A	chr4.hg19:g.146601532G>A		0						p.K59K	NM_001080531.1	NP_001074000.1	1	2	3	1.998139	C9J302	CD051_HUMAN		1	177	+				Silent	SNP	ENST00000438731.1	1	1	hg19	c.177G>A	CCDS47140.1	1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259618	0.10239	.	.	ENSG00000237136	ENST00000511965	.	.	.	6.02	-2.97	0.05530	6.02	-2.97	0.05530	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.6016	0.02675	0.1441:0.2135:0.2632:0.3791	.	.	.	.	N	19	.	.	S	+	2	0	0	C4orf51	146820982	146820982	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.837000	0.04377	-0.094000	0.12374	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_001080531			55	53		255	245	1		1			0	0	53	0		1	0	0	0	0	0	0	55	255
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)					TGCTTCTGACGGAGTCTCTGA	0.532																																						ENST00000508784.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(118-120)cCg>cTg		zinc finger protein 827		G	LEU/PRO	0,4406		0,0,2203	88.0	91.0	90.0		119	5.7	1.0	4	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF827	NM_178835.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	40/1078	146824292	2,13004	2203	4300	6503	SO:0001583	missense	152485	13	121412	43				g.chr4:146824292G>A	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.119C>T	chr4.hg19:g.146824292G>A	ENSP00000421863:p.Pro40Leu	0					ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L|ZNF827_ENST00000513320.1_Intron	p.P40L			1	2	3	1.998139	Q17R98	ZN827_HUMAN		2	346	-	all_hematologic(180;0.151)		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	1	1	hg19	c.119C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612703	0.66672	0.0	2.33E-4	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09163	3.01;3.05	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.048635	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.01146	-1.1437	10	0.72032	D	0.01	-16.9029	19.8182	0.96579	0.0:0.0:1.0:0.0	.	40;40	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	40;40;39	ENSP00000421863:P40L;ENSP00000368761:P40L	ENSP00000281318:P39L	P	-	2	0	0	ZNF827	147043742	147043742	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	5.679000	0.68160	2.700000	0.92200	0.561000	0.74099	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	0	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-2.626994	1	0.170000	NM_178835			101	98		415	403	1		1	0		0	0	117	0		1	4.132414e-01	0	0	0	7	0	101	415
POU4F2	5458	broad.mit.edu	37	4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T	rs537218174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	225					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCACCATGAACCCCATGC	0.726																																						ENST00000281321.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(673-675)atG>atT		POU class 4 homeobox 2							12.0	14.0	13.0					4																	147561405		2193	4289	6482	SO:0001583	missense	5458	0	0					g.chr4:147561405G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.675G>T	chr4.hg19:g.147561405G>T	ENSP00000281321:p.Met225Ile	0					AC093887.1_ENST00000584185.1_RNA	p.M225I	NM_004575.2	NP_004566.2	1	2	3	1.998139	Q12837	PO4F2_HUMAN		2	923	+	all_hematologic(180;0.151)		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	1	1	hg19	c.675G>T	CCDS34074.1	1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163240	0.38217	.	.	ENSG00000151615	ENST00000281321	D	0.82984	-1.67	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.689044	0.16201	N	0.224911	T	0.74473	0.3721	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.14578	0.011	T	0.66697	-0.5858	10	0.21014	T	0.42	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	225	Q12837	PO4F2_HUMAN	I	225	ENSP00000281321:M225I	ENSP00000281321:M225I	M	+	3	0	0	POU4F2	147780855	147780855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.609000	0.88269	0.462000	0.41574	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_004575			25	24		85	84	1		1			0	0	21	0		9.999999e-01	0	0	0	0	0	0	25	85
POU4F2	5458	broad.mit.edu	37	4	147561477	147561477	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	249					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTGCATGAGCGACGTGGACG	0.697																																						ENST00000281321.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(745-747)agC>agT		POU class 4 homeobox 2							16.0	18.0	17.0					4																	147561477		2194	4294	6488	SO:0001819	synonymous_variant	5458	2	120744	27				g.chr4:147561477C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.747C>T	chr4.hg19:g.147561477C>T		0					AC093887.1_ENST00000584185.1_RNA	p.S249S	NM_004575.2	NP_004566.2	1	2	3	1.998139	Q12837	PO4F2_HUMAN		2	995	+	all_hematologic(180;0.151)		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	1	1	hg19	c.747C>T	CCDS34074.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	1	0	0		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_004575			30	30		116	115	1		1			0	0	38	0		1	0	0	0	0	0	0	30	116
PRMT9	90826	broad.mit.edu	37	4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		534	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413																																						ENST00000322396.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1600-1602)cAt>cCt									177.0	167.0	171.0					4																	148575447		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr4:148575447T>G																												ENST00000322396.6:c.1601A>C	chr4.hg19:g.148575447T>G	ENSP00000314396:p.His534Pro	0					PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P|TMEM184C_ENST00000508208.1_Intron	p.H534P	NM_138364.2	NP_612373.2	1	2	3	1.998139	Q6P2P2	ANM9_HUMAN		9	1843	-			A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	1	1	hg19	c.1601A>C	CCDS3771.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122919	0.77436	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.58763	-0.7579	10	0.72032	D	0.01	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	534	Q6P2P2	ANM10_HUMAN	P	534;421	ENSP00000314396:H534P;ENSP00000439508:H421P	ENSP00000314396:H534P	H	-	2	0	0	PRMT10	148794897	148794897	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.374000	0.79633	2.317000	0.78254	0.459000	0.35465	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				120	117		495	488	1		1	1		0	0	110	0		1	9.839899e-01	0	9	0	20	0	120	495
CPEB2	132864	broad.mit.edu	37	4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000507071.1	+	8	1252	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	389	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378																																						ENST00000507071.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				14						c.(1165-1167)Cag>Tag		cytoplasmic polyadenylation element binding protein 2							150.0	151.0	151.0					4																	15060083		2203	4300	6503	SO:0001587	stop_gained	132864	0	0					g.chr4:15060083C>T	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1165C>T	chr4.hg19:g.15060083C>T	ENSP00000424084:p.Gln389*	0					CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*	p.Q389*			1	2	3	1.998139	Q7Z5Q1	CPEB2_HUMAN		8	1252	+			E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	ENST00000507071.1	0	1	hg19	c.1165C>T		1	.	.	.	.	.	.	.	.	.	.	C	38	7.145599	0.98092	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.228	19.9533	0.97211	0.0:1.0:0.0:0.0	.	.	.	.	X	834;826;807;389;359;367;362;397;376;42	.	ENSP00000259997:Q397X	Q	+	1	0	0	CPEB2	14669181	14669181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.725000	0.93324	0.585000	0.79938	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.326244	1	0.170000	XM_059607			51	50		281	278	1		1	1		0	0	75	0		1	9.529634e-01	0	5	0	25	0	51	281
ARHGAP10	79658	broad.mit.edu	37	4	148786101	148786101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		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)			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)		TTGAGTTTGTGGAACCTGTGA	0.373																																						ENST00000336498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(589-591)gtG>gtA		Rho GTPase activating protein 10							110.0	112.0	112.0					4																	148786101		2203	4300	6503	SO:0001819	synonymous_variant	79658	0	0					g.chr4:148786101G>A	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.591G>A	chr4.hg19:g.148786101G>A		0						p.V197V	NM_024605.3	NP_078881.3	1	2	3	1.998139	Q5T5U3	RHG21_HUMAN		6	830	+	all_hematologic(180;0.151)	Renal(17;0.0166)	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	1	1	hg19	c.591G>A	CCDS34075.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.594600	1	0.170000	NM_024605			52	51		198	190	1		1	1		0	0	48	0		1	9.999770e-01	0	5	0	59	0	52	198
MAB21L2	10586	broad.mit.edu	37	4	151504454	151504454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	91					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602																																						ENST00000317605.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(271-273)gaC>gaT		mab-21-like 2 (C. elegans)							81.0	75.0	77.0					4																	151504454		2203	4300	6503	SO:0001819	synonymous_variant	10586	0	0					g.chr4:151504454C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.273C>T	chr4.hg19:g.151504454C>T		0					LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA	p.D91D	NM_006439.4	NP_006430.1	1	2	3	1.998139	Q9Y586	MB212_HUMAN		1	1378	+	all_hematologic(180;0.151)		B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	1	1	hg19	c.273C>T	CCDS3774.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-20.000000	1	0.170000	NM_006439			76	76		381	375	1		1	0		0	0	86	0		1	2.662693e-01	0	0	0	6	0	76	381
MAB21L2	10586	broad.mit.edu	37	4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	137					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602																																						ENST00000317605.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(409-411)gCc>gTc		mab-21-like 2 (C. elegans)							100.0	99.0	100.0					4																	151504591		2203	4300	6503	SO:0001583	missense	10586	0	0					g.chr4:151504591C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.410C>T	chr4.hg19:g.151504591C>T	ENSP00000324701:p.Ala137Val	0					LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA	p.A137V	NM_006439.4	NP_006430.1	1	2	3	1.998139	Q9Y586	MB212_HUMAN		1	1515	+	all_hematologic(180;0.151)		B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	1	1	hg19	c.410C>T	CCDS3774.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657904	0.88154	.	.	ENSG00000181541	ENST00000317605	T	0.08634	3.07	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01393	-1.1366	10	0.27082	T	0.32	-11.1366	19.4696	0.94958	0.0:1.0:0.0:0.0	.	137	Q9Y586	MB212_HUMAN	V	137	ENSP00000324701:A137V	ENSP00000324701:A137V	A	+	2	0	0	MAB21L2	151724041	151724041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_006439			124	121		466	457	1		1	0		0	0	97	0		1	2.859676e-01	0	0	0	5	0	124	466
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000357115.3	-	40	6417	c.6174C>T	c.(6172-6174)ggC>ggT	p.G2058G	LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2058						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)				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)					TATCATCATCGCCTTCCAGGA	0.428																																						ENST00000357115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(6172-6174)ggC>ggT		LPS-responsive vesicle trafficking, beach and anchor containing							122.0	108.0	113.0					4																	151511917		2203	4300	6503	SO:0001819	synonymous_variant	987	0	0					g.chr4:151511917G>A	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.6174C>T	chr4.hg19:g.151511917G>A		0					LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G	p.G2058G	NM_006726.4	NP_006717.2	1	2	3	1.998139	P50851	LRBA_HUMAN		40	6417	-	all_hematologic(180;0.151)		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	1	1	hg19	c.6174C>T	CCDS3773.1	1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228041	0.22542	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.85	1.01	0.19927	5.85	1.01	0.19927	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	1.6732	0.02816	0.243:0.103:0.4426:0.2113	.	.	.	.	V	700	.	.	A	-	2	0	0	LRBA	151731367	151731367	0.966000	0.33281	0.999000	0.59377	0.988000	0.76386	0.059000	0.14322	0.081000	0.16988	0.557000	0.71058	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				69	67		268	265	1		1	1		0	0	71	0		1	9.999999e-01	0	28	0	68	0	69	268
LRBA	987	broad.mit.edu	37	4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000357115.3	-	35	5869	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1876						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)				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)					TTGACAAGTTCGATAAAAGCA	0.294																																						ENST00000357115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(5626-5628)Gaa>Aaa		LPS-responsive vesicle trafficking, beach and anchor containing							47.0	55.0	52.0					4																	151682954		2203	4285	6488	SO:0001583	missense	987	1	121374	27				g.chr4:151682954C>T	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.5626G>A	chr4.hg19:g.151682954C>T	ENSP00000349629:p.Glu1876Lys	0					LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K	p.E1876K	NM_006726.4	NP_006717.2	1	2	3	1.998139	P50851	LRBA_HUMAN		35	5869	-	all_hematologic(180;0.151)		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	1	1	hg19	c.5626G>A	CCDS3773.1	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632454	0.67015	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63913	0.37;0.52;0.38;-0.07	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.060679	0.64402	D	0.000004	T	0.81269	0.4787	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.452;0.996	T	0.82938	-0.0209	10	0.49607	T	0.09	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	1876;1876	P50851;P50851-2	LRBA_HUMAN;.	K	1876	ENSP00000446299:E1876K;ENSP00000421552:E1876K;ENSP00000349629:E1876K;ENSP00000422180:E1876K	ENSP00000349629:E1876K	E	-	1	0	0	LRBA	151902404	151902404	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-3.143525	1	0.170000				64	61		375	364	1		1	1		0	0	78	0		1	9.999998e-01	0	40	0	94	0	64	375
LRBA	987	broad.mit.edu	37	4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000357115.3	-	30	5362	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1707						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)				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)					TCACCAAGGGCTCCAAGGCAG	0.453																																						ENST00000357115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(5119-5121)Gcc>Acc		LPS-responsive vesicle trafficking, beach and anchor containing							131.0	116.0	121.0					4																	151749384		2203	4300	6503	SO:0001583	missense	987	0	0					g.chr4:151749384C>T	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.5119G>A	chr4.hg19:g.151749384C>T	ENSP00000349629:p.Ala1707Thr	0					LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T	p.A1707T	NM_006726.4	NP_006717.2	1	2	3	1.998139	P50851	LRBA_HUMAN		30	5362	-	all_hematologic(180;0.151)		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	1	1	hg19	c.5119G>A	CCDS3773.1	1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399829	0.25291	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.72	2.56	0.30785	5.72	2.56	0.30785	.	0.684498	0.14058	N	0.344240	T	0.39226	0.1070	L	0.40543	1.245	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.23119	-1.0197	10	0.13470	T	0.59	.	9.7525	0.40483	0.0:0.7331:0.1203:0.1465	.	1707;1707	P50851;P50851-2	LRBA_HUMAN;.	T	1707	ENSP00000446299:A1707T;ENSP00000421552:A1707T;ENSP00000349629:A1707T;ENSP00000422180:A1707T	ENSP00000349629:A1707T	A	-	1	0	0	LRBA	151968834	151968834	0.207000	0.23482	0.992000	0.48379	0.947000	0.59692	0.518000	0.22847	0.743000	0.32719	0.484000	0.47621	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000				75	74		429	421	1		1	1		0	0	111	0		1	1	0	55	0	91	0	75	429
LRBA	987	broad.mit.edu	37	4	151793872	151793872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151793872C>A	ENST00000357115.3	-	18	2444	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V|LRBA_ENST00000535741.1_Missense_Mutation_p.G734V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	734						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)				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)					TACCCTGATTCCTTCACTTTT	0.308																																						ENST00000357115.3	1.000000	0.190000	5.000000e-01	2.600000e-01	0.360000	0.405148	0.360000	0.350000																										0				91						c.(2200-2202)gGa>gTa		LPS-responsive vesicle trafficking, beach and anchor containing							89.0	88.0	89.0					4																	151793872		2203	4300	6503	SO:0001583	missense	987	0	0					g.chr4:151793872C>A	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.2201G>T	chr4.hg19:g.151793872C>A	ENSP00000349629:p.Gly734Val	0					LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V|LRBA_ENST00000535741.1_Missense_Mutation_p.G734V	p.G734V	NM_006726.4	NP_006717.2	1	2	3	1.998139	P50851	LRBA_HUMAN		18	2444	-	all_hematologic(180;0.151)		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	0	1	hg19	c.2201G>T	CCDS3773.1	0	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730606	0.69074	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.81	5.81	0.92471	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.070125	0.56097	D	0.000027	T	0.76905	0.4053	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.934	T	0.71530	-0.4565	10	0.30078	T	0.28	.	20.0714	0.97726	0.0:1.0:0.0:0.0	.	734;734	P50851;P50851-2	LRBA_HUMAN;.	V	734	ENSP00000446299:G734V;ENSP00000421552:G734V;ENSP00000349629:G734V;ENSP00000422180:G734V	ENSP00000349629:G734V	G	-	2	0	0	LRBA	152013322	152013322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.761000	0.55242	2.750000	0.94351	0.585000	0.79938	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.304970	1	0.170000				12	11		397	387	0		1	1		0	0	83	0		9.989906e-01	4.996135e-01	0	6	0	48	0	12	397
LRBA	987	broad.mit.edu	37	4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000357115.3	-	7	1080	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M|LRBA_ENST00000535741.1_Missense_Mutation_p.I279M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	279						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)				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)					CTTTTGACTTTATTGATGTTA	0.343																																						ENST00000357115.3	1.000000	0.240000	8.000000e-01	3.700000e-01	0.540000	0.582745	0.540000	1.000000																										0				91						c.(835-837)atA>atG		LPS-responsive vesicle trafficking, beach and anchor containing							71.0	66.0	68.0					4																	151837610		2203	4300	6503	SO:0001583	missense	987	0	0					g.chr4:151837610T>C	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.837A>G	chr4.hg19:g.151837610T>C	ENSP00000349629:p.Ile279Met	0					LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M|LRBA_ENST00000535741.1_Missense_Mutation_p.I279M	p.I279M	NM_006726.4	NP_006717.2	1	2	3	1.998139	P50851	LRBA_HUMAN		7	1080	-	all_hematologic(180;0.151)		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	1	1	hg19	c.837A>G	CCDS3773.1	0	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626892	0.28978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.24	0.50183	5.45	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063284	0.64402	D	0.000006	T	0.64249	0.2581	N	0.03608	-0.345	0.39855	D	0.973295	P;D;P	0.53619	0.934;0.961;0.573	P;D;B	0.63283	0.789;0.913;0.392	T	0.63042	-0.6725	10	0.23302	T	0.38	.	8.4306	0.32755	0.1305:0.0:0.1366:0.733	.	279;279;279	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	279	ENSP00000446299:I279M;ENSP00000421552:I279M;ENSP00000349629:I279M;ENSP00000422180:I279M	ENSP00000349629:I279M	I	-	3	3	3	LRBA	152057060	152057060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.715000	0.37971	0.974000	0.38366	0.374000	0.22700	ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-10.487800	1	0.170000				7	7		155	150	0		1	1		0	0	30	0		9.791061e-01	5.592569e-01	0	3	0	37	0	7	155
SH3D19	152503	broad.mit.edu	37	4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409252.2	-	10	1702	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000409598.4_Missense_Mutation_p.T332N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	332	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438																																						ENST00000409252.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(994-996)aCc>aAc		SH3 domain containing 19							110.0	97.0	101.0					4																	152069321		2203	4300	6503	SO:0001583	missense	152503	0	0					g.chr4:152069321G>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.995C>A	chr4.hg19:g.152069321G>T	ENSP00000386848:p.Thr332Asn	0					SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000409598.4_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N	p.T332N			1	2	3	1.998139	Q5HYK7	SH319_HUMAN		10	1702	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	1	1	hg19	c.995C>A	CCDS34077.2	1	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368597	0.11352	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69435	-0.4;0.23;-0.4;-0.4;-0.4;0.23;-0.4	5.57	-0.268	0.12934	5.57	-0.268	0.12934	.	2.146210	0.02286	N	0.069810	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B;P	0.37176	0.246;0.021;0.006;0.586	B;B;B;B	0.30029	0.06;0.004;0.003;0.11	T	0.27706	-1.0066	10	0.14252	T	0.57	3.4621	6.4763	0.22037	0.6693:0.1355:0.1952:0.0	.	332;332;296;110	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	332;332;332;296;296;332;332	ENSP00000387030:T332N;ENSP00000302913:T332N;ENSP00000416708:T332N;ENSP00000404542:T296N;ENSP00000415694:T296N;ENSP00000386848:T332N;ENSP00000423449:T332N	ENSP00000302913:T332N	T	-	2	0	0	SH3D19	152288771	152288771	0.489000	0.26004	0.009000	0.14445	0.060000	0.15804	1.280000	0.33202	-0.275000	0.09219	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	0	0	1		20	12	2	1		1	1	62		62	62	1	2.060000	-3.417698	1	0.170000	NM_001009555			77	75		324	313	1		1	1		1	0	62	0		1	9.999973e-01	0	57	0	136	0	77	324
SH3D19	152503	broad.mit.edu	37	4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409252.2	-	6	806	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000409598.4_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	33					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428																																						ENST00000409252.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(97-99)aaG>aaT		SH3 domain containing 19							123.0	130.0	128.0					4																	152096417		2203	4300	6503	SO:0001583	missense	152503	0	0					g.chr4:152096417C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.99G>T	chr4.hg19:g.152096417C>A	ENSP00000386848:p.Lys33Asn	0					SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000409598.4_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N	p.K33N			1	2	3	1.998139	Q5HYK7	SH319_HUMAN		6	806	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	1	1	hg19	c.99G>T	CCDS34077.2	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349846	0.61183	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	6.07	4.36	0.52297	6.07	4.36	0.52297	.	1.529900	0.03461	N	0.212118	T	0.18045	0.0433	L	0.54323	1.7	0.31061	N	0.714097	B;P;P	0.41232	0.434;0.57;0.743	B;B;P	0.45232	0.218;0.389;0.474	T	0.17289	-1.0374	10	0.72032	D	0.01	-3.7997	12.0101	0.53282	0.0:0.8089:0.0:0.1911	.	33;33;33	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	N	33	ENSP00000387030:K33N;ENSP00000302913:K33N;ENSP00000416708:K33N;ENSP00000404542:K33N;ENSP00000415694:K33N;ENSP00000386848:K33N;ENSP00000423449:K33N	ENSP00000302913:K33N	K	-	3	2	2	SH3D19	152315867	152315867	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.900000	0.36469	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	1	0	1		2	2	2	0		0	0	136		136	133	1	2.060000	-20.000000	1	0.170000	NM_001009555			143	141		645	631	1		1	1		0	0	136	0		1	1	0	88	0	216	0	143	645
FBXW7	55294	broad.mit.edu	37	4	153250829	153250829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	ENST00000281708.4	-	8	2460	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	411					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.?(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)				CTTACTTTGCCTGTGACTGCT	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4	1.000000	0.700000	1	8.700000e-01	0.990000	0.954188	0.990000	1.000000				Rec	yes			Rec	yes		4	4q31.3	4q31.3	55294	Mis, N, D, F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""				"""E, L"""	E, L			colorectal, endometrial, T-ALL		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	462						c.(1231-1233)Ggc>Agc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							103.0	91.0	95.0					4																	153250829		2202	4300	6502	SO:0001583	missense	55294	0	0					g.chr4:153250829C>T	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.1231G>A	chr4.hg19:g.153250829C>T	ENSP00000281708:p.Gly411Ser	0					FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S	p.G411S	NM_033632.3	NP_361014.1	1	2	3	1.998139	Q969H0	FBXW7_HUMAN		8	2460	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	1	1	hg19	c.1231G>A	CCDS3777.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005164	0.93287	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.03	6.03	0.97812	6.03	6.03	0.97812	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	0.83792	0.5331	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.997;0.994;0.994	D	0.84899	0.0841	10	0.62326	D	0.03	-13.4447	20.5568	0.99304	0.0:1.0:0.0:0.0	.	235;411;293;331	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	411;293;331;235	ENSP00000281708:G411S;ENSP00000296555:G293S;ENSP00000263981:G331S;ENSP00000377528:G235S	ENSP00000263981:G331S	G	-	1	0	0	FBXW7	153470279	153470279	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	0	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.318794	1	0.170000				23	23		234	233	0		1	1	1	0	0	75	231		9.999995e-01	9.759126e-01	9.999999e-01	3	27	61	258	23	234
FBXW7	55294	broad.mit.edu	37	4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|RP11-461L13.2_ENST00000605147.1_RNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	280	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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.?(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)				AATGAAATGAAGTCTCGTTGA	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Rec	yes			Rec	yes		4	4q31.3	4q31.3	55294	Mis, N, D, F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""				"""E, L"""	E, L			colorectal, endometrial, T-ALL		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	462						c.(838-840)Ttc>Ctc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							178.0	173.0	175.0					4																	153258977		2203	4300	6503	SO:0001583	missense	55294	0	0					g.chr4:153258977A>G	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.838T>C	chr4.hg19:g.153258977A>G	ENSP00000281708:p.Phe280Leu	0					FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA	p.F280L	NM_033632.3	NP_361014.1	1	2	3	1.998139	Q969H0	FBXW7_HUMAN		5	2067	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	1	1	hg19	c.838T>C	CCDS3777.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552008	0.86127	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.63	5.63	0.86233	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.094416	0.85682	D	0.000000	T	0.69700	0.3140	M	0.64260	1.97	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;0.997;0.999;0.999	T	0.69131	-0.5226	10	0.40728	T	0.16	-15.5855	15.8279	0.78727	1.0:0.0:0.0:0.0	.	104;280;162;200	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	280;162;200;104	ENSP00000281708:F280L;ENSP00000296555:F162L;ENSP00000263981:F200L;ENSP00000377528:F104L	ENSP00000263981:F200L	F	-	1	0	0	FBXW7	153478427	153478427	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-19.994890	1	0.170000				43	43		228	226	1		1	1	1	0	0	71	443		1	9.965844e-01	1	5	82	44	457	43	228
FHDC1	85462	broad.mit.edu	37	4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	689									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)					GGTTCCCAGGGCATGGAGGAG	0.622																																						ENST00000511601.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									ARFIP1/FHDC1(2)	0				43						c.(2065-2067)gGc>gAc		FH2 domain containing 1							44.0	46.0	45.0					4																	153896509		2203	4300	6503	SO:0001583	missense	85462	0	0					g.chr4:153896509G>A	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.2066G>A	chr4.hg19:g.153896509G>A	ENSP00000427567:p.Gly689Asp	0					FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D	p.G689D			1	2	3	1.998139	Q9C0D6	FHDC1_HUMAN		12	2254	+	all_hematologic(180;0.093)			Missense_Mutation	SNP	ENST00000511601.1	1	1	hg19	c.2066G>A	CCDS34081.1	1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757818	0.03019	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28069	1.63;1.63	5.29	-1.51	0.08664	5.29	-1.51	0.08664	.	2.486670	0.01025	N	0.004050	T	0.14960	0.0361	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.13108	T	0.6	.	2.6246	0.04926	0.1748:0.4201:0.1915:0.2136	.	689	Q9C0D6	FHDC1_HUMAN	D	689	ENSP00000427567:G689D;ENSP00000260008:G689D	ENSP00000260008:G689D	G	+	2	0	0	FHDC1	154115959	154115959	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.184000	0.09698	-0.619000	0.05648	-1.098000	0.02139	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_033393			62	61		291	286	1		1	1		0	0	68	0		1	8.482740e-01	0	12	0	6	0	62	291
FHDC1	85462	broad.mit.edu	37	4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	946									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)					GAACTCCGTGCGGAGGGCCTC	0.716																																						ENST00000511601.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.997617	0.990000	1.000000																									ARFIP1/FHDC1(2)	0				43						c.(2836-2838)Cgg>Tgg		FH2 domain containing 1							18.0	20.0	19.0					4																	153897279		2203	4292	6495	SO:0001583	missense	85462	0	0					g.chr4:153897279C>T	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.2836C>T	chr4.hg19:g.153897279C>T	ENSP00000427567:p.Arg946Trp	0					FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W	p.R946W			1	2	3	1.998139	Q9C0D6	FHDC1_HUMAN		12	3024	+	all_hematologic(180;0.093)			Missense_Mutation	SNP	ENST00000511601.1	1	1	hg19	c.2836C>T	CCDS34081.1	1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485608	0.44147	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41065	1.01;1.01	5.7	-11.4	0.00090	5.7	-11.4	0.00090	.	7.299360	0.01545	U	0.019398	T	0.51770	0.1694	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.69363	-0.5165	10	0.62326	D	0.03	.	27.3211	0.99998	0.1909:0.8091:0.0:0.0	.	946	Q9C0D6	FHDC1_HUMAN	W	946	ENSP00000427567:R946W;ENSP00000260008:R946W	ENSP00000260008:R946W	R	+	1	2	2	FHDC1	154116729	154116729	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-2.584000	0.00460	-1.014000	0.02459	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_033393			24	24		170	169	1		1	1		0	0	33	0		9.999998e-01	2.705108e-01	0	3	0	5	0	24	170
FHDC1	85462	broad.mit.edu	37	4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1118									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)					GCCAGAGGGGCTGGGGAAAGG	0.657																																						ENST00000511601.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																									ARFIP1/FHDC1(2)	0				43						c.(3352-3354)gCt>gAt		FH2 domain containing 1							13.0	15.0	14.0					4																	153897796		2195	4293	6488	SO:0001583	missense	85462	0	0					g.chr4:153897796C>A	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.3353C>A	chr4.hg19:g.153897796C>A	ENSP00000427567:p.Ala1118Asp	0					FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D	p.A1118D			1	2	3	1.998139	Q9C0D6	FHDC1_HUMAN		12	3541	+	all_hematologic(180;0.093)			Missense_Mutation	SNP	ENST00000511601.1	1	1	hg19	c.3353C>A	CCDS34081.1	1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001636	0.35320	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32515	1.45;1.45	5.42	-1.08	0.09936	5.42	-1.08	0.09936	.	1.740290	0.02777	N	0.120404	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20009	-1.0288	10	0.45353	T	0.12	.	4.6293	0.12493	0.2264:0.3667:0.0:0.4069	.	1118	Q9C0D6	FHDC1_HUMAN	D	1118	ENSP00000427567:A1118D;ENSP00000260008:A1118D	ENSP00000260008:A1118D	A	+	2	0	0	FHDC1	154117246	154117246	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.058000	0.14301	-0.286000	0.09076	-0.181000	0.13052	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_033393			24	24		76	75	0		1	1		0	0	18	0		9.999999e-01	7.315884e-01	0	3	0	7	0	24	76
TRIM2	23321	broad.mit.edu	37	4	154216605	154216605	+	Silent	SNP	C	C	T	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000437508.2	+	6	1047	c.846C>T	c.(844-846)aaC>aaT	p.N282N	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.N309N	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	282					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)			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)		AGAAGCTGAACGAGCTGGCCG	0.582																																						ENST00000437508.2	1.000000	0.610000	1	7.900000e-01	0.990000	0.921827	0.990000	1.000000																										0				19						c.(844-846)aaC>aaT		tripartite motif containing 2		C	,	0,4406		0,0,2203	70.0	62.0	65.0		846,927	2.1	1.0	4	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	282/745,309/772	154216605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23321	4	121412	38				g.chr4:154216605C>T	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.846C>T	chr4.hg19:g.154216605C>T		0					TRIM2_ENST00000338700.5_Silent_p.N309N|TRIM2_ENST00000494872.1_3'UTR	p.N282N	NM_001130067.1	NP_001123539.1	1	2	3	1.998139	Q9C040	TRIM2_HUMAN		6	1047	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	1	1	hg19	c.846C>T	CCDS47147.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.999930	1	0.170000				18	19		198	195	0		1	1		0	0	44	0		9.999843e-01	8.328627e-01	0	3	0	35	0	18	198
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324					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)			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)		CACCAACGCCGTTGCCTCAGA	0.607																																						ENST00000437508.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(970-972)Gtt>Att		tripartite motif containing 2							58.0	52.0	54.0					4																	154216729		2203	4300	6503	SO:0001583	missense	23321	1	121412	28				g.chr4:154216729G>A	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.970G>A	chr4.hg19:g.154216729G>A	ENSP00000415812:p.Val324Ile	0					TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	p.V324I	NM_001130067.1	NP_001123539.1	1	2	3	1.998139	Q9C040	TRIM2_HUMAN		6	1171	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	1	1	hg19	c.970G>A	CCDS47147.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	0	TRIM2	154436179	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				58	57		186	182	1		1	1		0	0	50	0		1	9.999414e-01	0	21	0	29	0	58	186
TRIM2	23321	broad.mit.edu	37	4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000437508.2	+	6	1288	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.A390T	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	363					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)			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)		AACCGGCAACGCCTACCTCAC	0.617																																						ENST00000437508.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				19						c.(1087-1089)Gcc>Acc		tripartite motif containing 2							73.0	71.0	71.0					4																	154216846		2203	4300	6503	SO:0001583	missense	23321	1	121412	26				g.chr4:154216846G>A	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.1087G>A	chr4.hg19:g.154216846G>A	ENSP00000415812:p.Ala363Thr	0					TRIM2_ENST00000338700.5_Missense_Mutation_p.A390T|TRIM2_ENST00000494872.1_3'UTR	p.A363T	NM_001130067.1	NP_001123539.1	1	2	3	1.998139	Q9C040	TRIM2_HUMAN		6	1288	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	1	1	hg19	c.1087G>A	CCDS47147.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.189461	0.94923	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84589	-1.87;-1.87	5.29	5.29	0.74685	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091921	0.85682	D	0.000000	D	0.93458	0.7913	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.525	D	0.92425	0.5949	10	0.33940	T	0.23	-0.104	19.2934	0.94112	0.0:0.0:1.0:0.0	.	390;363	D3DP09;Q9C040	.;TRIM2_HUMAN	T	363;390	ENSP00000415812:A363T;ENSP00000339659:A390T	ENSP00000339659:A390T	A	+	1	0	0	TRIM2	154436296	154436296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.375000	0.97178	2.641000	0.89580	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000				40	39		223	218	1		1	1		0	0	52	0		1	9.948355e-01	0	23	0	25	0	40	223
TRIM2	23321	broad.mit.edu	37	4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000437508.2	+	6	1363	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.T415A	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	388					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)			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)		CAAGAACGGCACCTATGAGTT	0.567																																						ENST00000437508.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(1162-1164)Acc>Gcc		tripartite motif containing 2							124.0	120.0	122.0					4																	154216921		2203	4300	6503	SO:0001583	missense	23321	0	0					g.chr4:154216921A>G	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.1162A>G	chr4.hg19:g.154216921A>G	ENSP00000415812:p.Thr388Ala	0					TRIM2_ENST00000338700.5_Missense_Mutation_p.T415A|TRIM2_ENST00000494872.1_3'UTR	p.T388A	NM_001130067.1	NP_001123539.1	1	2	3	1.998139	Q9C040	TRIM2_HUMAN		6	1363	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	1	1	hg19	c.1162A>G	CCDS47147.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426009	0.83667	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.87887	-2.31;-2.31	5.59	5.59	0.84812	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043072	0.85682	D	0.000000	D	0.94860	0.8339	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	D	0.95673	0.8725	10	0.59425	D	0.04	-13.6538	15.7668	0.78131	1.0:0.0:0.0:0.0	.	415;388	D3DP09;Q9C040	.;TRIM2_HUMAN	A	388;415	ENSP00000415812:T388A;ENSP00000339659:T415A	ENSP00000339659:T415A	T	+	1	0	0	TRIM2	154436371	154436371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.867000	0.92314	2.134000	0.65973	0.459000	0.35465	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				52	52		301	293	1		1	1		0	0	63	0		1	9.983182e-01	0	27	0	31	0	52	301
C1QTNF7	114905	broad.mit.edu	37	4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000444304.2	+	2	331	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	2					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448																																						ENST00000444304.2	1.000000	0.360000	8.100000e-01	4.800000e-01	0.620000	0.648913	0.620000	0.590000																										0				16						c.(4-6)tTt>tGt		C1q and tumor necrosis factor related protein 7							104.0	98.0	100.0					4																	15437372		2203	4300	6503	SO:0001583	missense	114905	0	0					g.chr4:15437372T>G	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.5T>G	chr4.hg19:g.15437372T>G	ENSP00000388914:p.Phe2Cys	0					C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C	p.F2C			1	2	3	1.998139	Q9BXJ2	C1QT7_HUMAN		2	331	+			B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	1	1	hg19	c.5T>G	CCDS3414.1	0	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219555	0.58560	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91843	-2.92;-2.62;-2.79;-2.56;-2.56	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.356883	0.33092	N	0.005299	D	0.86904	0.6045	N	0.24115	0.695	0.34774	D	0.733995	P	0.46277	0.875	B	0.40602	0.334	D	0.91376	0.5123	10	0.52906	T	0.07	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2	Q9BXJ2	C1QT7_HUMAN	C	9;9;2;2;2	ENSP00000380812:F9C;ENSP00000295297:F9C;ENSP00000371820:F2C;ENSP00000410722:F2C;ENSP00000388914:F2C	ENSP00000295297:F9C	F	+	2	0	0	C1QTNF7	15046470	15046470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.025000	0.64097	2.228000	0.72767	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-4.965303	1	0.170000				16	16		297	292	0		1	0		0	0	67	0		9.999304e-01	2.342059e-01	0	0	0	17	0	16	297
TRIM2	23321	broad.mit.edu	37	4	154217082	154217082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000437508.2	+	6	1524	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.P468P	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441					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)			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)		TTAAGTCCCCGGGGAGCGGCC	0.532																																						ENST00000437508.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(1321-1323)ccG>ccA		tripartite motif containing 2							54.0	56.0	56.0					4																	154217082		2203	4300	6503	SO:0001819	synonymous_variant	23321	2	121404	35				g.chr4:154217082G>A	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.1323G>A	chr4.hg19:g.154217082G>A		0					TRIM2_ENST00000338700.5_Silent_p.P468P|TRIM2_ENST00000494872.1_3'UTR	p.P441P	NM_001130067.1	NP_001123539.1	1	2	3	1.998139	Q9C040	TRIM2_HUMAN		6	1524	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	1	1	hg19	c.1323G>A	CCDS47147.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1		15	2	2	0		0	1	65		65	65	1	2.060000	-2.634124	1	0.170000				45	44		243	238	1		1	1		0	0	65	0		9.999878e-01	9.994083e-01	0	23	0	40	0	45	243
KIAA0922	23240	broad.mit.edu	37	4	154523409	154523409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154523409A>G	ENST00000409663.3	+	22	2421	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	790						integral component of membrane (GO:0016021)				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)				AATGGGTATAACTGCCAAGGT	0.383																																						ENST00000409663.3	1.000000	0.140000	3.300000e-01	1.900000e-01	0.240000	0.294718	0.240000	0.240000																										0				63						c.(2368-2370)aAc>aGc		KIAA0922							153.0	152.0	153.0					4																	154523409		2203	4300	6503	SO:0001583	missense	23240	2	121412	39				g.chr4:154523409A>G	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.2369A>G	chr4.hg19:g.154523409A>G	ENSP00000386574:p.Asn790Ser	0					KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S|KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S	p.N790S	NM_015196.3	NP_056011.3	1	2	3	1.998139	A2VDJ0	T131L_HUMAN		22	2421	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	0	1	hg19	c.2369A>G	CCDS3783.2	0	.	.	.	.	.	.	.	.	.	.	A	6.899	0.535347	0.13188	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16597	2.6;2.33;2.6;2.33	5.81	4.62	0.57501	5.81	4.62	0.57501	.	0.232813	0.50627	N	0.000115	T	0.07007	0.0178	N	0.10837	0.055	0.29994	N	0.81661	P;B;B	0.34412	0.453;0.021;0.004	B;B;B	0.33196	0.159;0.032;0.006	T	0.21965	-1.0230	10	0.07325	T	0.83	-20.898	6.483	0.22073	0.7169:0.0:0.2831:0.0	.	707;791;790	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	S	790;707;791;568	ENSP00000386574:N790S;ENSP00000409663:N707S;ENSP00000386787:N791S;ENSP00000240487:N568S	ENSP00000240487:N568S	N	+	2	0	0	KIAA0922	154742859	154742859	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	2.583000	0.46094	1.014000	0.39417	-0.290000	0.09829	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-3.100779	1	0.170000	NM_015196			17	16		818	810	0		1	0		0	0	135	0		9.999611e-01	3.656548e-02	0	0	0	14	0	17	818
KIAA0922	23240	broad.mit.edu	37	4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409663.3	+	25	3437	c.3385G>T	c.(3385-3387)Gac>Tac	p.D1129Y	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1129						integral component of membrane (GO:0016021)				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)				CCACCAGCCAGACTTGCCAGA	0.428																																						ENST00000409663.3	1.000000	0.810000	1	9.200000e-01	0.990000	0.974044	0.990000	1.000000																										0				63						c.(3385-3387)Gac>Tac		KIAA0922							63.0	63.0	63.0					4																	154525552		2201	4292	6493	SO:0001583	missense	23240	0	0					g.chr4:154525552G>T	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.3385G>T	chr4.hg19:g.154525552G>T	ENSP00000386574:p.Asp1129Tyr	0					KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y	p.D1129Y	NM_015196.3	NP_056011.3	1	2	3	1.998139	A2VDJ0	T131L_HUMAN		25	3437	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	1	1	hg19	c.3385G>T	CCDS3783.2	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463610	0.43736	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21361	2.29;2.01;2.29;2.02	5.98	5.14	0.70334	5.98	5.14	0.70334	.	0.492803	0.23396	N	0.048640	T	0.40372	0.1114	L	0.47716	1.5	0.40617	D	0.98172	D;D;D	0.89917	1.0;0.99;0.983	D;D;P	0.75484	0.986;0.913;0.822	T	0.30851	-0.9964	10	0.72032	D	0.01	-16.3091	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1046;1130;1129	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1129;1046;1130;907	ENSP00000386574:D1129Y;ENSP00000409663:D1046Y;ENSP00000386787:D1130Y;ENSP00000240487:D907Y	ENSP00000240487:D907Y	D	+	1	0	0	KIAA0922	154745002	154745002	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.047000	0.64232	1.531000	0.49152	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_015196			55	51		562	554	0		1	1		0	0	122	0		1	7.612187e-01	0	3	0	27	0	55	562
KIAA0922	23240	broad.mit.edu	37	4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A	rs548174005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409663.3	+	32	4361	c.4309G>A	c.(4309-4311)Gcc>Acc	p.A1437T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1437						integral component of membrane (GO:0016021)				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)				TCAGGAGTCGGCCCCGGTTCA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19311	0.0		0.0	False		,,,				2504	0.0					ENST00000409663.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(4309-4311)Gcc>Acc		KIAA0922							131.0	103.0	113.0					4																	154553974		2203	4300	6503	SO:0001583	missense	23240	1	121412	23				g.chr4:154553974G>A	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.4309G>A	chr4.hg19:g.154553974G>A	ENSP00000386574:p.Ala1437Thr	0					KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T	p.A1437T	NM_015196.3	NP_056011.3	1	2	3	1.998139	A2VDJ0	T131L_HUMAN		32	4361	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	1	1	hg19	c.4309G>A	CCDS3783.2	1	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716702	0.15306	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.5;2.23;2.5;2.23	5.09	1.23	0.21249	5.09	1.23	0.21249	.	0.662406	0.15768	N	0.245617	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35011	0.48;0.035;0.021	B;B;B	0.27715	0.082;0.009;0.004	T	0.32455	-0.9906	10	0.02654	T	1	-0.261	11.6361	0.51204	0.0919:0.4304:0.4776:0.0	.	1354;1438;1437	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	1437;1354;1438;1215	ENSP00000386574:A1437T;ENSP00000409663:A1354T;ENSP00000386787:A1438T;ENSP00000240487:A1215T	ENSP00000240487:A1215T	A	+	1	0	0	KIAA0922	154773424	154773424	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.780000	0.26760	-0.099000	0.12263	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.545649	1	0.170000	NM_015196			71	70		295	287	1		1	1		0	0	75	0		1	9.826254e-01	0	3	0	25	0	71	295
KIAA0922	23240	broad.mit.edu	37	4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409663.3	+	35	4802	c.4750C>A	c.(4750-4752)Ctg>Atg	p.L1584M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1584						integral component of membrane (GO:0016021)				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)				CTATATGAACCTGGACATATG	0.468																																						ENST00000409663.3	1.000000	0.250000	5.700000e-01	3.300000e-01	0.430000	0.472561	0.430000	0.410000																										0				63						c.(4750-4752)Ctg>Atg		KIAA0922							98.0	94.0	95.0					4																	154557648		2203	4300	6503	SO:0001583	missense	23240	0	0					g.chr4:154557648C>A	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.4750C>A	chr4.hg19:g.154557648C>A	ENSP00000386574:p.Leu1584Met	0					KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M	p.L1584M	NM_015196.3	NP_056011.3	1	2	3	1.998139	A2VDJ0	T131L_HUMAN		35	4802	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	1	1	hg19	c.4750C>A	CCDS3783.2	0	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766502	0.69878	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37915	1.43;1.17;1.43;1.19	5.93	5.09	0.68999	5.93	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.27053	0.805	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-12.7261	9.5794	0.39479	0.0:0.8025:0.0:0.1975	.	1501;1585;1584	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1584;1501;1585;1362	ENSP00000386574:L1584M;ENSP00000409663:L1501M;ENSP00000386787:L1585M;ENSP00000240487:L1362M	ENSP00000240487:L1362M	L	+	1	2	2	KIAA0922	154777098	154777098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.719000	0.47244	1.509000	0.48786	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-3.172572	1	0.170000	NM_015196			16	16		433	427	0		1	0		0	0	80	0		9.999282e-01	6.029820e-01	0	1	0	54	0	16	433
TLR2	7097	broad.mit.edu	37	4	154624431	154624431	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154624431T>A	ENST00000260010.6	+	1	1780	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	124					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)			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)	AGCCCCTTTCTTCTTTAACAT	0.363																																						ENST00000260010.6	1.000000	0.140000	4.900000e-01	2.200000e-01	0.320000	0.374104	0.320000	0.300000																										0				29						c.(370-372)tcT>tcA		toll-like receptor 2	OspA lipoprotein(DB00045)						37.0	41.0	40.0					4																	154624431		2200	4297	6497	SO:0001819	synonymous_variant	7097	0	0					g.chr4:154624431T>A	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.372T>A	chr4.hg19:g.154624431T>A		0						p.S124S	NM_003264.3	NP_003255.2	1	2	3	1.998139	O60603	TLR2_HUMAN		1	1780	+	all_hematologic(180;0.093)	Renal(120;0.117)	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	0	1	hg19	c.372T>A	CCDS3784.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-8.115815	1	0.170000				7	7		267	264	0		1	0		0	0	54	0		9.802115e-01	8.563712e-01	0	0	0	136	0	7	267
TLR2	7097	broad.mit.edu	37	4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	385					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)			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)	TGTGAGGATGCCTGGCCCTCT	0.348																																						ENST00000260010.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1153-1155)gCc>gTc		toll-like receptor 2	OspA lipoprotein(DB00045)						37.0	39.0	38.0					4																	154625213		2201	4300	6501	SO:0001583	missense	7097	0	0					g.chr4:154625213C>T	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.1154C>T	chr4.hg19:g.154625213C>T	ENSP00000260010:p.Ala385Val	0						p.A385V	NM_003264.3	NP_003255.2	1	2	3	1.998139	O60603	TLR2_HUMAN		1	2562	+	all_hematologic(180;0.093)	Renal(120;0.117)	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	1	1	hg19	c.1154C>T	CCDS3784.1	1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515517	0.27123	.	.	ENSG00000137462	ENST00000260010	T	0.21932	1.98	6.06	4.33	0.51752	6.06	4.33	0.51752	.	0.194642	0.45361	D	0.000372	T	0.26521	0.0648	M	0.70595	2.14	0.38589	D	0.950384	P	0.36660	0.564	B	0.29176	0.099	T	0.23226	-1.0194	10	0.72032	D	0.01	.	18.8242	0.92109	0.0:0.7436:0.2564:0.0	.	385	O60603	TLR2_HUMAN	V	385	ENSP00000260010:A385V	ENSP00000260010:A385V	A	+	2	0	0	TLR2	154844663	154844663	0.001000	0.12720	0.966000	0.40874	0.974000	0.67602	-0.234000	0.09028	0.873000	0.35799	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				58	56		196	189	1		1	0		0	0	56	0		1	1	0	0	0	120	0	58	196
SFRP2	6423	broad.mit.edu	37	4	154702681	154702681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	270	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)			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)				TCACCGAGGTGATCACCAGCT	0.592																																						ENST00000274063.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(808-810)atC>atT		secreted frizzled-related protein 2							145.0	107.0	120.0					4																	154702681		2203	4300	6503	SO:0001819	synonymous_variant	6423	0	0					g.chr4:154702681G>A	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.810C>T	chr4.hg19:g.154702681G>A		0						p.I270I	NM_003013.2	NP_003004.1	1	2	3	1.998139	Q96HF1	SFRP2_HUMAN		3	1094	-	all_hematologic(180;0.093)	Renal(120;0.117)	B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	1	1	hg19	c.810C>T	CCDS34082.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000				69	67		287	281	1		1	0		0	0	51	0		1	1	0	0	0	1997	0	69	287
DCHS2	54798	broad.mit.edu	37	4	155155914	155155914	+	Missense_Mutation	SNP	G	G	A	rs61746111	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155155914G>A	ENST00000357232.4	-	25	8524	c.8525C>T	c.(8524-8526)cCg>cTg	p.P2842L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2842					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GTTTACTGCCGGCATTCTTGG	0.512													G|||	63	0.0125799	0.0431	0.0043	5008	,	,		18727	0.0		0.0	False		,,,				2504	0.0031					ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(8524-8526)cCg>cTg		dachsous cadherin-related 2		G	LEU/PRO	179,4227	115.9+/-153.8	6,167,2030	114.0	117.0	116.0		8525	5.9	1.0	4	dbSNP_129	116	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DCHS2	NM_017639.3	98	6,168,6329	AA,AG,GG		0.0116,4.0626,1.384	probably-damaging	2842/2917	155155914	180,12826	2203	4300	6503	SO:0001583	missense	54798	437	121408	62				g.chr4:155155914G>A	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.8525C>T	chr4.hg19:g.155155914G>A	ENSP00000349768:p.Pro2842Leu	0						p.P2842L	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		25	8524	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	0	hg19	c.8525C>T	CCDS3785.1	1	20	0.009157509157509158	17	0.034552845528455285	3	0.008287292817679558	0	0.0	0	0.0	G	19.47	3.833634	0.71258	0.040626	1.16E-4	ENSG00000197410	ENST00000357232	T	0.57107	0.42	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.45236	0.1332	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66221	-0.5978	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	2842	Q6V1P9	PCD23_HUMAN	L	2842	ENSP00000349768:P2842L	ENSP00000349768:P2842L	P	-	2	0	0	DCHS2	155375364	155375364	1.000000	0.71417	0.985000	0.45067	0.066000	0.16364	6.741000	0.74837	2.798000	0.96311	0.655000	0.94253	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	0	1		19	2	2	1		1	1	147		147	144	1	2.060000	-2.292112	0	0.170000	NM_001142552			166	160		649	629	1		1	0		1	0	147	0		1	1.875830e-01	0	0	0	4	0	166	649
DCHS2	54798	broad.mit.edu	37	4	155156624	155156624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2605					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GGACCACCTCGTTACTGCAGT	0.473																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(7813-7815)aaC>aaT		dachsous cadherin-related 2							124.0	125.0	125.0					4																	155156624		2203	4300	6503	SO:0001819	synonymous_variant	54798	2	121412	38				g.chr4:155156624G>A	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.7815C>T	chr4.hg19:g.155156624G>A		0						p.N2605N	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		25	7814	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	1	1	hg19	c.7815C>T	CCDS3785.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_001142552			98	94		479	471	1		1	0		0	0	97	0		1	7.819071e-02	0	0	0	3	0	98	479
DCHS2	54798	broad.mit.edu	37	4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T	rs373906914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2602					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		TTACTGCAGTCGTCAGTTTTC	0.448																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(7804-7806)Gac>Aac		dachsous cadherin-related 2		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	123.0	125.0	125.0		7804	4.8	0.0	4		125	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2602/2917	155156635	1,13005	2203	4300	6503	SO:0001583	missense	54798	2	121410	38				g.chr4:155156635C>T	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.7804G>A	chr4.hg19:g.155156635C>T	ENSP00000349768:p.Asp2602Asn	0						p.D2602N	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		25	7803	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.7804G>A	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	C	2.701	-0.271019	0.05716	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.6	4.76	0.60689	5.6	4.76	0.60689	.	0.640826	0.15264	N	0.271617	T	0.32882	0.0844	L	0.34521	1.04	0.23243	N	0.998056	B	0.26602	0.154	B	0.14023	0.01	T	0.15492	-1.0435	10	0.19147	T	0.46	.	9.2146	0.37339	0.0:0.7928:0.0:0.2072	.	2602	Q6V1P9	PCD23_HUMAN	N	2602	ENSP00000349768:D2602N	ENSP00000349768:D2602N	D	-	1	0	0	DCHS2	155376085	155376085	0.001000	0.12720	0.008000	0.14137	0.043000	0.13939	1.139000	0.31504	1.373000	0.46208	0.467000	0.42956	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_001142552			111	107		483	476	1		1	0		0	0	93	0		1	0	0	0	0	1	0	111	483
DCHS2	54798	broad.mit.edu	37	4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2376	Cadherin 21. {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)			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)		ATATCCCCTGTCAAAGGGTCA	0.418																																						ENST00000357232.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994788	0.990000	1.000000																										0				176						c.(7126-7128)Aca>Cca		dachsous cadherin-related 2							97.0	89.0	92.0					4																	155157313		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155157313T>G	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.7126A>C	chr4.hg19:g.155157313T>G	ENSP00000349768:p.Thr2376Pro	0						p.T2376P	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		25	7125	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.7126A>C	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244831	0.59103	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.6	4.41	0.53225	5.6	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85767	0.1353	10	0.59425	D	0.04	.	12.3787	0.55295	0.1262:0.0:0.0:0.8737	.	2376	Q6V1P9	PCD23_HUMAN	P	2376	ENSP00000349768:T2376P	ENSP00000349768:T2376P	T	-	1	0	0	DCHS2	155376763	155376763	1.000000	0.71417	0.418000	0.26571	0.755000	0.42902	4.059000	0.57470	1.038000	0.40049	0.460000	0.39030	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-16.856880	1	0.170000	NM_001142552			51	51		451	444	1		1	0		0	0	113	0		1	1.082823e-02	0	0	0	2	0	51	451
DCHS2	54798	broad.mit.edu	37	4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2326	Cadherin 21. {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)			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)		AATAGGCAGATTTTCTGGAAC	0.393																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(6976-6978)aAt>aCt		dachsous cadherin-related 2							101.0	94.0	97.0					4																	155157462		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155157462T>G	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.6977A>C	chr4.hg19:g.155157462T>G	ENSP00000349768:p.Asn2326Thr	0						p.N2326T	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		25	6976	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.6977A>C	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612391	0.46631	.	.	ENSG00000197410	ENST00000357232	T	0.25414	1.8	5.68	5.68	0.88126	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56688	0.2002	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63778	-0.6560	10	0.72032	D	0.01	.	15.9379	0.79729	0.0:0.0:0.0:1.0	.	2326	Q6V1P9	PCD23_HUMAN	T	2326	ENSP00000349768:N2326T	ENSP00000349768:N2326T	N	-	2	0	0	DCHS2	155376912	155376912	1.000000	0.71417	0.921000	0.36526	0.010000	0.07245	6.287000	0.72671	2.151000	0.67156	0.523000	0.50628	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001142552			97	96		443	430	1		1	0		0	0	98	0		1	3.284449e-02	0	0	0	2	0	97	443
DCHS2	54798	broad.mit.edu	37	4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1515	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)			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)		CAGTCAGAAAATACTCAGTTT	0.478																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(4543-4545)taT>taG		dachsous cadherin-related 2							131.0	127.0	128.0					4																	155219556		2203	4300	6503	SO:0001587	stop_gained	54798	0	0					g.chr4:155219556A>C	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.4545T>G	chr4.hg19:g.155219556A>C	ENSP00000349768:p.Tyr1515*	0						p.Y1515*	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		18	4544	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	0	1	hg19	c.4545T>G	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	A	43	9.909025	0.99293	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.76	0.333	0.15943	5.76	0.333	0.15943	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3991	0.32574	0.5243:0.0:0.4757:0.0	.	.	.	.	X	1515	.	ENSP00000349768:Y1515X	Y	-	3	2	2	DCHS2	155439006	155439006	1.000000	0.71417	0.490000	0.27465	0.763000	0.43281	1.913000	0.39956	0.191000	0.20236	0.528000	0.53228	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-20.000000	1	0.170000	NM_001142552			122	120		472	462	1		1	0		0	0	105	0		1	1.911652e-01	0	0	0	4	0	122	472
DCHS2	54798	broad.mit.edu	37	4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1084	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CAAAAAACTGCCGTCATCATC	0.448																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(3250-3252)gGc>gTc		dachsous cadherin-related 2							248.0	268.0	261.0					4																	155241935		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155241935C>A	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.3251G>T	chr4.hg19:g.155241935C>A	ENSP00000349768:p.Gly1084Val	0						p.G1084V	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		14	3250	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.3251G>T	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722369	0.68959	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.69	5.69	0.88448	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81168	0.4766	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.52906	T	0.07	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1084	Q6V1P9	PCD23_HUMAN	V	1084	ENSP00000349768:G1084V	ENSP00000349768:G1084V	G	-	2	0	0	DCHS2	155461385	155461385	1.000000	0.71417	0.935000	0.37517	0.467000	0.32768	7.487000	0.81328	2.683000	0.91414	0.563000	0.77884	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	161		161	161	1	2.060000	-20.000000	1	0.170000	NM_001142552			148	148		581	574	1		1	0		0	0	161	0		1	4.154105e-02	0	0	0	2	0	148	581
DCHS2	54798	broad.mit.edu	37	4	155253943	155253943	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000339452.1_Silent_p.T1139T|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	640	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)			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)		AAATCCAGCCCGTGTAAGGGC	0.522																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(1918-1920)acG>acA		dachsous cadherin-related 2							49.0	53.0	52.0					4																	155253943		2203	4300	6503	SO:0001819	synonymous_variant	54798	0	0					g.chr4:155253943C>T	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.1920G>A	chr4.hg19:g.155253943C>T		0					DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.T1139T	p.T640T	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		9	1919	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	1	1	hg19	c.1920G>A	CCDS3785.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	0	1		18	2	2	1		1	1	59		59	58	1	2.060000	-3.181372	1	0.170000	NM_001142552			71	69		253	249	1		1			1	0	59	0		1	0	0	0	0	0	0	71	253
DCHS2	54798	broad.mit.edu	37	4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T	rs200145926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	561	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)			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)		TGAGGATGCACGCCTTGGTCC	0.612																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(1681-1683)Gtg>Atg		dachsous cadherin-related 2							61.0	62.0	62.0					4																	155254182		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155254182C>T	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.1681G>A	chr4.hg19:g.155254182C>T	ENSP00000349768:p.Val561Met	0					DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	p.V561M	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		9	1680	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.1681G>A	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225699	0.39300	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52057	0.68;0.68	5.73	-2.6	0.06190	5.73	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	1.191250	0.06159	N	0.675671	T	0.33933	0.0880	L	0.41356	1.27	0.09310	N	0.999999	P;P	0.36110	0.537;0.476	B;B	0.31686	0.125;0.134	T	0.23368	-1.0190	10	0.44086	T	0.13	.	7.315	0.26495	0.0:0.1804:0.3299:0.4897	.	1060;561	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	561;1060;1060	ENSP00000349768:V561M;ENSP00000345062:V1060M	ENSP00000345062:V1060M	V	-	1	0	0	DCHS2	155473632	155473632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.289000	0.08365	-0.723000	0.04915	-0.136000	0.14681	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_001142552			77	76		283	279	1		1			0	0	77	0		1	0	0	0	0	0	0	77	283
DCHS2	54798	broad.mit.edu	37	4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	502	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)			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)		TCCGCACGTGCGAGGTACAAG	0.597																																						ENST00000357232.4	1.000000	0.610000	1	7.500000e-01	0.920000	0.891669	0.920000	1.000000																										0				176						c.(1504-1506)Gca>Aca		dachsous cadherin-related 2							68.0	64.0	66.0					4																	155254359		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155254359C>T	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.1504G>A	chr4.hg19:g.155254359C>T	ENSP00000349768:p.Ala502Thr	0					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	p.A502T	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		9	1503	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.1504G>A	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048405	0.75846	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51817	0.69;0.69	5.6	4.76	0.60689	5.6	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.67002	0.2847	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66666	-0.5866	10	0.33141	T	0.24	.	14.2287	0.65877	0.0:0.9285:0.0:0.0715	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	502;1001;1001	ENSP00000349768:A502T;ENSP00000345062:A1001T	ENSP00000345062:A1001T	A	-	1	0	0	DCHS2	155473809	155473809	1.000000	0.71417	0.020000	0.16555	0.653000	0.38743	6.018000	0.70811	1.366000	0.46076	0.563000	0.77884	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_001142552			25	25		301	295	0		1			0	0	51	0		9.999998e-01	0	0	0	0	0	0	25	301
DCHS2	54798	broad.mit.edu	37	4	155254428	155254428	+	Missense_Mutation	SNP	C	C	A	rs72966167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254428C>A	ENST00000357232.4	-	9	1434	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	DCHS2_ENST00000339452.1_Missense_Mutation_p.A978S|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	479	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)			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)		CTGAGGAACGCTGGGTGGTTG	0.602																																						ENST00000357232.4	1.000000	0.300000	6.300000e-01	3.900000e-01	0.490000	0.525308	0.490000	0.480000																										0				176						c.(1435-1437)Gcg>Tcg		dachsous cadherin-related 2							118.0	103.0	108.0					4																	155254428		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155254428C>A	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.1435G>T	chr4.hg19:g.155254428C>A	ENSP00000349768:p.Ala479Ser	0					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A978S	p.A479S	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		9	1434	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	0	hg19	c.1435G>T	CCDS3785.1	0	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236531	0.39498	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60920	0.15;0.15	5.63	1.44	0.22558	5.63	1.44	0.22558	Cadherin (2);Cadherin-like (1);	1.665360	0.03486	N	0.215819	T	0.42653	0.1212	N	0.12920	0.275	0.19300	N	0.999973	B;B	0.24533	0.025;0.105	B;B	0.21708	0.022;0.036	T	0.28332	-1.0047	10	0.24483	T	0.36	.	10.6812	0.45815	0.0:0.6636:0.0:0.3364	.	978;479	E9PC11;Q6V1P9	.;PCD23_HUMAN	S	479;978;978	ENSP00000349768:A479S;ENSP00000345062:A978S	ENSP00000345062:A978S	A	-	1	0	0	DCHS2	155473878	155473878	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.985000	0.29578	0.341000	0.23771	-0.244000	0.11960	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0		2	2	2	0		0	0	75		75	75	1	2.060000	-19.187860	1	0.170000	NM_001142552			20	20		473	467	0		1			0	0	75	0		9.999948e-01	0	0	0	0	0	0	20	473
CC2D2A	57545	broad.mit.edu	37	4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000503292.1	+	15	1701	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	507					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)				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						CATTGCTTAAGACTATCATAA	0.323																																						ENST00000503292.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.990623	0.990000	1.000000																										0				32						c.(1519-1521)aaG>aaT		coiled-coil and C2 domain containing 2A							58.0	57.0	57.0					4																	15534870		1810	4068	5878	SO:0001583	missense	57545	0	0					g.chr4:15534870G>T	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.1521G>T	chr4.hg19:g.15534870G>T	ENSP00000421809:p.Lys507Asn	0					CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000513811.1_3'UTR	p.K507N	NM_001080522.2	NP_001073991.2	1	2	3	1.998139	Q9P2K1	C2D2A_HUMAN		15	1701	+			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	0	1	hg19	c.1521G>T	CCDS47026.1	1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631078	0.67015	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	D;D;T;D;D	0.84730	-1.88;-1.88;-0.31;-1.88;-1.89	5.38	3.58	0.41010	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89871	0.4023	10	0.51188	T	0.08	.	9.6005	0.39601	0.2355:0.0:0.7645:0.0	.	507;458	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	507;507;458;458;507;507;458	ENSP00000403465:K507N;ENSP00000398391:K507N;ENSP00000422875:K507N;ENSP00000421809:K507N;ENSP00000374303:K458N	ENSP00000374303:K458N	K	+	3	2	2	CC2D2A	15143968	15143968	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.636000	0.37144	1.193000	0.43086	0.557000	0.71058	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-18.913150	1	0.170000	NM_001080522			11	11		72	72	0		1	0		0	0	18	0		9.987199e-01	5.891756e-01	0	0	0	14	0	11	72
DCHS2	54798	broad.mit.edu	37	4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	87	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)			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)		CCATAGAGTCCTGAATCTGCA	0.433																																						ENST00000357232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(259-261)Gga>Aga		dachsous cadherin-related 2							59.0	60.0	59.0					4																	155298572		2203	4300	6503	SO:0001583	missense	54798	0	0					g.chr4:155298572C>T	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.259G>A	chr4.hg19:g.155298572C>T	ENSP00000349768:p.Gly87Arg	0					DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	p.G87R	NM_017639.3	NP_060109.2	1	2	3	1.998139	Q6V1P9	PCD23_HUMAN		3	258	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.259G>A	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649025	0.87958	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	0.47;-0.2	5.64	5.64	0.86602	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.87010	0.6071	H	0.96889	3.9	0.80722	D	1	P;D	0.89917	0.889;1.0	P;D	0.85130	0.716;0.997	D	0.90962	0.4813	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	693;87	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	87;693;693	ENSP00000349768:G87R;ENSP00000345062:G693R	ENSP00000345062:G693R	G	-	1	0	0	DCHS2	155518022	155518022	0.981000	0.34729	0.921000	0.36526	0.897000	0.52465	5.216000	0.65246	2.664000	0.90586	0.561000	0.74099	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.721180	1	0.170000	NM_001142552			43	40		150	147	1		1	0		0	0	33	0		1	5.127940e-02	0	0	0	2	0	43	150
PLRG1	5356	broad.mit.edu	37	4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	191					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)			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)				CCACGGTGGGTGCCACTGGGG	0.423																																						ENST00000499023.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(571-573)cAc>cGc		pleiotropic regulator 1							132.0	131.0	131.0					4																	155465619		2203	4300	6503	SO:0001583	missense	5356	0	0					g.chr4:155465619T>C	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.572A>G	chr4.hg19:g.155465619T>C	ENSP00000424417:p.His191Arg	0					RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R	p.H191R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	1	2	3	1.998139	O43660	PLRG1_HUMAN		7	698	-	all_hematologic(180;0.215)	Renal(120;0.0854)	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	1	1	hg19	c.572A>G	CCDS34083.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667238	0.88251	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.80824	-1.42;-1.42;-1.42	6.02	6.02	0.97574	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.51422	1.61	0.80722	D	1	P;B	0.39404	0.672;0.199	B;P	0.49387	0.283;0.609	D	0.84188	0.0443	10	0.56958	D	0.05	-12.8404	16.5494	0.84464	0.0:0.0:0.0:1.0	.	182;191	O43660-2;O43660	.;PLRG1_HUMAN	R	191;191;182;189	ENSP00000424417:H191R;ENSP00000377483:H191R;ENSP00000303191:H182R	ENSP00000303191:H182R	H	-	2	0	0	PLRG1	155685069	155685069	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_002669			63	61		224	218	1		1	1		0	0	55	0		1	1	0	37	0	120	0	63	224
FGB	2244	broad.mit.edu	37	4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000302068.4	+	6	1002	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_ENST00000509493.1_Missense_Mutation_p.K94N|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			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)	CAGATGGGAAGAATTACTGTG	0.378																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4	1.000000	0.710000	1	8.200000e-01	0.950000	0.924572	0.950000	1.000000																										0				34						c.(937-939)aaG>aaT		fibrinogen beta chain	Sucralfate(DB00364)						137.0	130.0	132.0					4																	155490440		2203	4300	6503	SO:0001583	missense	2244	0	0					g.chr4:155490440G>T		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.939G>T	chr4.hg19:g.155490440G>T	ENSP00000306099:p.Lys313Asn	0					FGB_ENST00000509493.1_Missense_Mutation_p.K94N|FGB_ENST00000502545.1_3'UTR	p.K313N	NM_005141.4	NP_005132.2	1	2	3	1.998139	P02675	FIBB_HUMAN		6	1002	+	all_hematologic(180;0.215)	Renal(120;0.0458)	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	1	1	hg19	c.939G>T	CCDS3786.1	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099002	0.37048	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81163	-1.46;-1.46	5.67	-2.43	0.06522	5.67	-2.43	0.06522	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78223	2.4	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87404	0.2371	10	0.87932	D	0	.	14.6258	0.68621	0.3111:0.0:0.6889:0.0	.	296;313	B4E1D3;P02675	.;FIBB_HUMAN	N	313;296;94	ENSP00000306099:K313N;ENSP00000426757:K94N	ENSP00000306099:K313N	K	+	3	2	2	FGB	155709890	155709890	0.585000	0.26774	0.512000	0.27736	0.144000	0.21451	-0.021000	0.12504	-0.316000	0.08690	-0.302000	0.09304	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	1	0	0		19	2	2	1		1	1	110		110	110	1	2.060000	-12.718360	1	0.170000	NM_005141			50	49		578	567	0		1	0		1	0	110	0		9.999600e-01	6.671195e-03	0	0	0	2	0	50	578
FGB	2244	broad.mit.edu	37	4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000302068.4	+	7	1128	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_ENST00000509493.1_Missense_Mutation_p.H136Q|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	355	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			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)	TAAAGGCTCACTATGGAGGAT	0.438																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1063-1065)caC>caA		fibrinogen beta chain	Sucralfate(DB00364)						111.0	102.0	105.0					4																	155490772		2203	4300	6503	SO:0001583	missense	2244	0	0					g.chr4:155490772C>A		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.1065C>A	chr4.hg19:g.155490772C>A	ENSP00000306099:p.His355Gln	0					FGB_ENST00000509493.1_Missense_Mutation_p.H136Q|FGB_ENST00000502545.1_Intron	p.H355Q	NM_005141.4	NP_005132.2	1	2	3	1.998139	P02675	FIBB_HUMAN		7	1128	+	all_hematologic(180;0.215)	Renal(120;0.0458)	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	1	1	hg19	c.1065C>A	CCDS3786.1	1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.347836	0.00219	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.75821	-0.97;-0.97	5.53	-0.582	0.11709	5.53	-0.582	0.11709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.679797	0.15903	N	0.239000	T	0.31071	0.0785	N	0.00750	-1.22	0.21220	N	0.999751	B;B	0.17038	0.02;0.003	B;B	0.12837	0.008;0.005	T	0.31530	-0.9940	10	0.07990	T	0.79	.	0.5293	0.00626	0.3762:0.1746:0.1239:0.3253	.	338;355	B4E1D3;P02675	.;FIBB_HUMAN	Q	355;338;136	ENSP00000306099:H355Q;ENSP00000426757:H136Q	ENSP00000306099:H355Q	H	+	3	2	2	FGB	155710222	155710222	0.000000	0.05858	0.140000	0.22221	0.075000	0.17131	-1.869000	0.01643	-0.011000	0.14247	-0.961000	0.02630	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_005141			79	78		343	332	1		1	0		0	0	96	0		1	3.914905e-01	0	1	0	6	0	79	343
FGA	2243	broad.mit.edu	37	4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			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)	ATTGAAAATGCCACTTTGGGT	0.378																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999710	0.990000	1.000000																										0				73						c.(1936-1938)gGc>gAc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46.0	47.0	47.0					4																	155505940		2203	4300	6503	SO:0001583	missense	2243	0	0					g.chr4:155505940C>T		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.1937G>A	chr4.hg19:g.155505940C>T	ENSP00000306361:p.Gly646Asp	0						p.G646D	NM_000508.3	NP_000499.1	1	2	3	1.998139	P02671	FIBA_HUMAN		6	2015	-	all_hematologic(180;0.215)	Renal(120;0.0458)	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	1	1	hg19	c.1937G>A	CCDS3787.1	1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770217	0.69992	.	.	ENSG00000171560	ENST00000302053	D	0.98987	-5.3	5.46	4.63	0.57726	5.46	4.63	0.57726	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.98972	0.9650	M	0.82433	2.59	0.80722	D	1	P	0.46277	0.875	P	0.53988	0.739	D	0.98824	1.0748	10	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.9288:0.0:0.0712	.	646	P02671	FIBA_HUMAN	D	646	ENSP00000306361:G646D	ENSP00000306361:G646D	G	-	2	0	0	FGA	155725390	155725390	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.530000	0.60595	1.304000	0.44892	-0.143000	0.13931	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.318812	1	0.170000	NM_000508			46	46		330	324	1		1	0		0	0	61	0		1	4.318095e-02	0	0	0	3	0	46	330
FGA	2243	broad.mit.edu	37	4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	395					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)			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)	GGGCTATCTGGCCTAAAACTT	0.537																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1183-1185)Cca>Tca		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						81.0	86.0	84.0					4																	155507398		2203	4300	6503	SO:0001583	missense	2243	0	0					g.chr4:155507398G>A		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.1183C>T	chr4.hg19:g.155507398G>A	ENSP00000306361:p.Pro395Ser	0					FGA_ENST00000403106.3_Missense_Mutation_p.P395S	p.P395S	NM_000508.3	NP_000499.1	1	2	3	1.998139	P02671	FIBA_HUMAN		5	1261	-	all_hematologic(180;0.215)	Renal(120;0.0458)	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	1	1	hg19	c.1183C>T	CCDS3787.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692833	0.68271	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.69685	-0.42;1.61	5.65	4.8	0.61643	5.65	4.8	0.61643	.	37.045900	0.00166	N	0.000000	D	0.82393	0.5027	M	0.73962	2.25	0.27372	N	0.955658	P;D	0.89917	0.886;1.0	P;D	0.83275	0.51;0.996	T	0.52779	-0.8530	10	0.46703	T	0.11	.	7.4811	0.27406	0.0832:0.0:0.7497:0.1671	.	395;395	P02671-2;P02671	.;FIBA_HUMAN	S	395	ENSP00000306361:P395S;ENSP00000385981:P395S	ENSP00000306361:P395S	P	-	1	0	0	FGA	155726848	155726848	0.996000	0.38824	0.665000	0.29768	0.944000	0.59088	1.984000	0.40658	1.379000	0.46325	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_000508			102	99		503	487	1		1	0		0	0	102	0		1	9.992475e-01	0	0	0	54	0	102	503
FGA	2243	broad.mit.edu	37	4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	140					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)			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)	CGCTTCAGGACTTCAATTCTG	0.403																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(418-420)Gtc>Atc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						194.0	177.0	183.0					4																	155508756		2203	4300	6503	SO:0001583	missense	2243	1	121412	30				g.chr4:155508756C>T		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.418G>A	chr4.hg19:g.155508756C>T	ENSP00000306361:p.Val140Ile	0					FGA_ENST00000403106.3_Missense_Mutation_p.V140I	p.V140I	NM_000508.3	NP_000499.1	1	2	3	1.998139	P02671	FIBA_HUMAN		4	496	-	all_hematologic(180;0.215)	Renal(120;0.0458)	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	1	1	hg19	c.418G>A	CCDS3787.1	1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017251	0.07959	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.84370	-1.84;-1.84	6.16	-0.556	0.11803	6.16	-0.556	0.11803	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.369600	0.04234	N	0.335841	T	0.57902	0.2085	N	0.00926	-1.1	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	0.59284	-0.7483	10	0.05525	T	0.97	.	6.2462	0.20818	0.1133:0.3299:0.0:0.5568	.	140;140;140	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	I	140	ENSP00000306361:V140I;ENSP00000385981:V140I	ENSP00000306361:V140I	V	-	1	0	0	FGA	155728206	155728206	0.000000	0.05858	0.649000	0.29536	0.771000	0.43674	-0.481000	0.06552	-0.003000	0.14444	0.650000	0.86243	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_000508			94	91		387	382	1		1	0		0	0	92	0		1	9.997839e-01	0	0	0	53	0	94	387
FGG	2266	broad.mit.edu	37	4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000336098.3	-	9	1236	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000404648.3_Missense_Mutation_p.T400P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	400	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418																																						ENST00000336098.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1198-1200)Acc>Ccc		fibrinogen gamma chain	Sucralfate(DB00364)						147.0	138.0	141.0					4																	155526150		2203	4300	6503	SO:0001583	missense	2266	0	0					g.chr4:155526150T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1198A>C	chr4.hg19:g.155526150T>G	ENSP00000336829:p.Thr400Pro	0					FGG_ENST00000404648.3_Missense_Mutation_p.T400P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	p.T400P	NM_021870.2	NP_068656.2	1	2	3	1.998139	P02679	FIBG_HUMAN		9	1236	-	all_hematologic(180;0.215)	Renal(120;0.0458)	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	1	1	hg19	c.1198A>C	CCDS3788.1	1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161777	0.38217	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.08	-1.2	0.09554	6.08	-1.2	0.09554	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.788626	0.12680	N	0.448038	T	0.63034	0.2477	N	0.20483	0.58	0.09310	N	1	B;B;B;B;B	0.21381	0.01;0.003;0.055;0.002;0.044	B;B;B;B;B	0.30572	0.074;0.064;0.117;0.006;0.044	T	0.56038	-0.8045	10	0.72032	D	0.01	.	7.9052	0.29757	0.2906:0.2134:0.0:0.4961	.	297;408;400;408;400	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	P	400;408;400;408	ENSP00000384860:T400P;ENSP00000384101:T408P;ENSP00000336829:T400P;ENSP00000384552:T408P	ENSP00000336829:T400P	T	-	1	0	0	FGG	155745600	155745600	0.996000	0.38824	0.787000	0.31911	0.983000	0.72400	0.610000	0.24253	-0.372000	0.07992	-0.360000	0.07572	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_021870			102	101		461	456	1		1	0		0	0	91	0		1	9.922562e-01	0	0	0	36	0	102	461
FGG	2266	broad.mit.edu	37	4	155528027	155528027	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155528027T>G	ENST00000336098.3	-	8	997	c.959A>C	c.(958-960)gAt>gCt	p.D320A	FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000404648.3_Missense_Mutation_p.D320A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCGCCAAAATCAAAGCCATC	0.468																																						ENST00000336098.3	1.000000	0.140000	3.600000e-01	2.000000e-01	0.260000	0.314128	0.260000	0.250000																										0				27						c.(958-960)gAt>gCt		fibrinogen gamma chain	Sucralfate(DB00364)						236.0	208.0	217.0					4																	155528027		2203	4300	6503	SO:0001583	missense	2266	0	0					g.chr4:155528027T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.959A>C	chr4.hg19:g.155528027T>G	ENSP00000336829:p.Asp320Ala	0					FGG_ENST00000404648.3_Missense_Mutation_p.D320A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	p.D320A	NM_021870.2	NP_068656.2	1	2	3	1.998139	P02679	FIBG_HUMAN		8	997	-	all_hematologic(180;0.215)	Renal(120;0.0458)	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	0	1	hg19	c.959A>C	CCDS3788.1	0	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081363	0.55753	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.79	5.79	0.91817	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043772	0.85682	D	0.000000	D	0.94918	0.8357	N	0.21545	0.675	0.80722	D	1	P;P;P;P;P	0.50710	0.568;0.845;0.938;0.938;0.923	B;P;P;P;P	0.50378	0.251;0.523;0.639;0.639;0.506	D	0.93618	0.6945	10	0.15499	T	0.54	.	16.1223	0.81369	0.0:0.0:0.0:1.0	.	217;328;320;328;320	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	A	320;328;320;328	ENSP00000384860:D320A;ENSP00000384101:D328A;ENSP00000336829:D320A;ENSP00000384552:D328A	ENSP00000336829:D320A	D	-	2	0	0	FGG	155747477	155747477	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	4.935000	0.63498	2.201000	0.70794	0.528000	0.53228	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	0	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-3.380079	1	0.170000	NM_021870			14	14		628	612	0		1	0		0	0	129	0		9.997085e-01	1.811452e-01	0	0	0	33	0	14	628
RBM46	166863	broad.mit.edu	37	4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000281722.3	+	3	694	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000510397.1_Missense_Mutation_p.K153N|RBM46_ENST00000514866.1_Missense_Mutation_p.K153N	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	153	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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)				AGGAAAAGAAGAAAGAAGAAA	0.328																																						ENST00000281722.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(457-459)aaG>aaT		RNA binding motif protein 46							62.0	68.0	66.0					4																	155719270		2203	4300	6503	SO:0001583	missense	166863	0	0					g.chr4:155719270G>T	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.459G>T	chr4.hg19:g.155719270G>T	ENSP00000281722:p.Lys153Asn	0					RBM46_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000510397.1_Missense_Mutation_p.K153N	p.K153N	NM_144979.3	NP_659416.1	1	2	3	1.998139	Q8TBY0	RBM46_HUMAN		3	694	+	all_hematologic(180;0.24)	Renal(120;0.0854)	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	1	1	hg19	c.459G>T	CCDS3790.1	1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354214	0.41700	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15487	2.42;2.42;2.42	5.79	0.892	0.19230	5.79	0.892	0.19230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.102857	0.64402	D	0.000002	T	0.26702	0.0653	L	0.54323	1.7	0.39437	D	0.967185	B;P;P	0.41569	0.34;0.755;0.578	B;P;P	0.53809	0.215;0.735;0.568	T	0.02617	-1.1133	10	0.48119	T	0.1	-17.5845	10.4173	0.44329	0.5062:0.0:0.4938:0.0	.	153;153;153	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	N	153	ENSP00000424500:K153N;ENSP00000281722:K153N;ENSP00000422813:K153N	ENSP00000281722:K153N	K	+	3	2	2	RBM46	155938720	155938720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.876000	0.39588	0.189000	0.20188	-0.251000	0.11542	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_144979			63	62		344	340	1		1			0	0	58	0		1	0	0	0	0	0	0	63	344
RBM46	166863	broad.mit.edu	37	4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C	rs564343316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000281722.3	+	5	1760	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	509							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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)				CTATCCTTTGTCACCAACAAT	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		16339	0.0		0.0	False		,,,				2504	0.001					ENST00000281722.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1525-1527)Tca>Cca		RNA binding motif protein 46							168.0	161.0	163.0					4																	155749142		2203	4300	6503	SO:0001583	missense	166863	1	121412	32				g.chr4:155749142T>C	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.1525T>C	chr4.hg19:g.155749142T>C	ENSP00000281722:p.Ser509Pro	0					RBM46_ENST00000510397.1_3'UTR	p.S509P	NM_144979.3	NP_659416.1	1	2	3	1.998139	Q8TBY0	RBM46_HUMAN		5	1760	+	all_hematologic(180;0.24)	Renal(120;0.0854)	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	1	1	hg19	c.1525T>C	CCDS3790.1	1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923194	0.52653	.	.	ENSG00000151962	ENST00000281722	T	0.20463	2.07	5.67	4.49	0.54785	5.67	4.49	0.54785	.	0.000000	0.43260	D	0.000590	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.15066	T	0.55	-10.9458	7.6213	0.28187	0.1256:0.0701:0.0:0.8043	.	509	Q8TBY0	RBM46_HUMAN	P	509	ENSP00000281722:S509P	ENSP00000281722:S509P	S	+	1	0	0	RBM46	155968592	155968592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.077000	0.40990	0.533000	0.62120	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	1	0	1		2	2	2	0		0	0	160		160	156	1	2.060000	-20.000000	1	0.170000	NM_144979			171	168		704	696	1		1			0	0	160	0		1	0	0	0	0	0	0	171	704
NPY2R	4887	broad.mit.edu	37	4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					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)			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)	GAAAATGGGTCCTGTCCTGTG	0.517																																						ENST00000329476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				36						c.(358-360)Cct>Tct		neuropeptide Y receptor Y2	Cysteamine(DB00847)						68.0	68.0	68.0					4																	156135449		2203	4300	6503	SO:0001583	missense	4887	0	0					g.chr4:156135449C>T	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.358C>T	chr4.hg19:g.156135449C>T	ENSP00000332591:p.Pro120Ser	0					NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	p.P120S	NM_000910.2	NP_000901.1	1	2	3	1.998139	P49146	NPY2R_HUMAN		2	847	+	all_hematologic(180;0.24)	Renal(120;0.0854)	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	1	1	hg19	c.358C>T	CCDS3791.1	1	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.074551	0.01903	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.44	2.74	0.32292	5.44	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.29749	0.0743	N	0.00637	-1.305	0.31948	N	0.610021	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.08179	T	0.78	.	3.4285	0.07420	0.1399:0.5778:0.1353:0.1471	.	120	P49146	NPY2R_HUMAN	S	120	ENSP00000332591:P120S;ENSP00000426366:P120S	ENSP00000332591:P120S	P	+	1	0	0	NPY2R	156354899	156354899	0.018000	0.18449	0.795000	0.32087	0.502000	0.33828	1.493000	0.35605	0.337000	0.23665	-0.163000	0.13421	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_000910			39	39		238	234	1		1			0	0	49	0		1	0	0	0	0	0	0	39	238
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					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)			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)	CCACATCATCGCCATGTGCTC	0.537																																						ENST00000329476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				36						c.(940-942)Gcc>Acc		neuropeptide Y receptor Y2	Cysteamine(DB00847)						123.0	97.0	106.0					4																	156136031		2203	4300	6503	SO:0001583	missense	4887	0	0					g.chr4:156136031G>A	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.940G>A	chr4.hg19:g.156136031G>A	ENSP00000332591:p.Ala314Thr	0					NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	p.A314T	NM_000910.2	NP_000901.1	1	2	3	1.998139	P49146	NPY2R_HUMAN		2	1429	+	all_hematologic(180;0.24)	Renal(120;0.0854)	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	1	1	hg19	c.940G>A	CCDS3791.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668224	0.88348	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.86	5.86	0.93980	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87349	0.2336	10	0.87932	D	0	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	314	P49146	NPY2R_HUMAN	T	314	ENSP00000332591:A314T;ENSP00000426366:A314T	ENSP00000332591:A314T	A	+	1	0	0	NPY2R	156355481	156355481	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	9.869000	0.99810	2.770000	0.95276	0.643000	0.83706	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.144724	1	0.170000	NM_000910			51	51		300	298	1		1			0	0	83	0		1	0	0	0	0	0	0	51	300
MAP9	79884	broad.mit.edu	37	4	156296174	156296174	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		MAP9_ENST00000515654.1_Splice_Site|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9						cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368																																						ENST00000311277.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.992439	0.990000	1.000000																										0				26						c.e3-1		microtubule-associated protein 9							131.0	120.0	124.0					4																	156296174		2203	4300	6503	SO:0001630	splice_region_variant	79884	0	0					g.chr4:156296174C>T	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.76-1G>A	chr4.hg19:g.156296174C>T		0					AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site|MAP9_ENST00000515654.1_Splice_Site		NM_001039580.1	NP_001034669.1	1	2	3	1.998139	Q49MG5	MAP9_HUMAN		3	339	-	all_hematologic(180;0.24)	Renal(120;0.0458)	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Splice_Site	SNP	ENST00000311277.4	1	1	hg19		CCDS35493.1	1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708525	0.68615	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000450097	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MAP9	156515624	156515624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.428000	0.82296	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.716765	1	0.170000	NM_001039580	Intron		27	27		222	219	1		1			0	0	66	0		1	0	0	0	0	0	0	27	222
GUCY1A3	2982	broad.mit.edu	37	4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	128					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)			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)		TTCAGGAGTTCCAGTGGAGGT	0.388																																						ENST00000296518.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(382-384)Cca>Tca		guanylate cyclase 1, soluble, alpha 3							65.0	70.0	69.0					4																	156631699		2203	4300	6503	SO:0001583	missense	2982	0	0					g.chr4:156631699C>T		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.382C>T	chr4.hg19:g.156631699C>T	ENSP00000296518:p.Pro128Ser	0					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR	p.P128S			1	2	3	1.998139	Q02108	GCYA3_HUMAN		6	591	+	all_hematologic(180;0.24)	Renal(120;0.0854)	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	1	1	hg19	c.382C>T	CCDS34085.1	1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010766	0.35511	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.38	4.52	0.55395	5.38	4.52	0.55395	Heme-NO binding (1);	0.095478	0.46442	D	0.000289	T	0.41143	0.1146	M	0.70275	2.135	0.51012	D	0.999901	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.21546	0.035;0.035;0.035	T	0.43572	-0.9383	10	0.02654	T	1	.	16.267	0.82593	0.0:0.867:0.133:0.0	.	128;128;128	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	128	ENSP00000424361:P128S;ENSP00000421493:P128S;ENSP00000426968:P128S;ENSP00000412201:P128S;ENSP00000296518:P128S;ENSP00000426040:P128S	ENSP00000296518:P128S	P	+	1	0	0	GUCY1A3	156851149	156851149	1.000000	0.71417	0.049000	0.19019	0.618000	0.37518	4.260000	0.58835	1.351000	0.45789	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				46	45		233	230	1		1	0		0	0	62	0		1	9.999701e-01	0	0	0	82	0	46	233
GUCY1B3	2983	broad.mit.edu	37	4	156717528	156717528	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						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)			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)		GCCTTTTCAAGGAAGGATTGT	0.428																																						ENST00000264424.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				28						c.e8-1		guanylate cyclase 1, soluble, beta 3							187.0	180.0	182.0					4																	156717528		1980	4152	6132	SO:0001630	splice_region_variant	2983	0	0					g.chr4:156717528G>T	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.844-1G>T	chr4.hg19:g.156717528G>T		0					GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site		NM_000857.2	NP_000848.1	1	2	3	1.998139	Q02153	GCYB1_HUMAN		8	925	+	all_hematologic(180;0.24)	Renal(120;0.0854)	B7Z426|Q86WY5	Splice_Site	SNP	ENST00000264424.8	1	1	hg19		CCDS47154.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105229	0.56291	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GUCY1B3	156936978	156936978	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.308000	0.96247	2.551000	0.86045	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.146395	1	0.170000		Intron		49	48		282	278	1		1			0	0	62	0		1	0	0	0	0	0	0	49	282
TDO2	6999	broad.mit.edu	37	4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											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)		AGTGATAGGTACAAGGTATTT	0.303																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999526	0.990000	1.000000																										0				18						c.(1075-1077)tAc>tGc		tryptophan 2,3-dioxygenase							65.0	66.0	66.0					4																	156840997		2203	4300	6503	SO:0001583	missense	6999	0	0					g.chr4:156840997A>G		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.1076A>G	chr4.hg19:g.156840997A>G	ENSP00000444788:p.Tyr359Cys	0						p.Y359C	NM_005651.3	NP_005642.1	1	2	3	1.998139				12	1140	+	all_hematologic(180;0.24)	Renal(120;0.0854)		Missense_Mutation	SNP	ENST00000536354.2	1	1	hg19	c.1076A>G	CCDS34086.1	1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520340	0.64747	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88209	0.2889	9	0.87932	D	0	-20.8017	16.215	0.82206	1.0:0.0:0.0:0.0	.	359	P48775	T23O_HUMAN	C	359	.	ENSP00000281525:Y359C	Y	+	2	0	0	TDO2	157060447	157060447	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.768000	0.91737	2.288000	0.76882	0.533000	0.62120	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-12.248510	1	0.170000	NM_005651			20	19		111	110	1		1	0		0	0	35	0		9.999968e-01	7.793649e-01	0	1	0	17	0	20	111
CTSO	1519	broad.mit.edu	37	4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	304					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)			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)		TAACCATCTACTCCCCAAGAA	0.343																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(889-891)Gta>Ata		cathepsin O							108.0	101.0	103.0					4																	156849530		2203	4300	6503	SO:0001583	missense	1519	1	121412	34				g.chr4:156849530C>T	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.889G>A	chr4.hg19:g.156849530C>T	ENSP00000414904:p.Val297Ile	0						p.V297I	NM_001334.2	NP_001325.1	1	2	3	1.998139	P43235	CATK_HUMAN		7	958	-	all_hematologic(180;0.24)	Renal(120;0.0458)	Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	1	1	hg19	c.889G>A	CCDS3794.1	1	.	.	.	.	.	.	.	.	.	.	C	3.991	-0.004456	0.07773	.	.	ENSG00000256043	ENST00000433477	T	0.28895	1.59	5.32	1.38	0.22167	5.32	1.38	0.22167	Peptidase C1A, papain C-terminal (2);	0.587842	0.18013	N	0.154497	T	0.12475	0.0303	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.22556	-1.0213	10	0.33940	T	0.23	.	5.6985	0.17869	0.0:0.4893:0.1324:0.3784	.	297	P43234	CATO_HUMAN	I	297	ENSP00000414904:V297I	ENSP00000281527:V297I	V	-	1	0	0	CTSO	157068980	157068980	0.017000	0.18338	0.379000	0.26080	0.938000	0.57974	0.020000	0.13466	-0.053000	0.13289	-0.142000	0.14014	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001334			62	61		299	292	1		1	1		0	0	87	0		1	1	0	23	0	238	0	62	299
CD38	952	broad.mit.edu	37	4	15780058	15780058	+	Silent	SNP	C	C	T	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	7					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647																																						ENST00000226279.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(19-21)agC>agT		CD38 molecule							65.0	72.0	69.0					4																	15780058		2203	4300	6503	SO:0001819	synonymous_variant	952	0	0					g.chr4:15780058C>T	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.21C>T	chr4.hg19:g.15780058C>T		0						p.S7S	NM_001775.2	NP_001766.2	1	2	3	1.998139	P28907	CD38_HUMAN		1	158	+			O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	1	1	hg19	c.21C>T	CCDS3417.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	0	0	1		22	3	2	1		1	1	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_001775			125	124		530	521	1		1	0		1	0	97	0		1	9.763447e-01	0	0	0	36	0	125	530
PDGFC	56034	broad.mit.edu	37	4	157689048	157689048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	266					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)			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)		AAATGGTATCGGTTCTCTTTA	0.453																																						ENST00000502773.1	1.000000	0.230000	5.000000e-01	3.000000e-01	0.380000	0.424095	0.380000	0.370000																										0				19						c.(796-798)acC>acT		platelet derived growth factor C							184.0	168.0	173.0					4																	157689048		2203	4299	6502	SO:0001819	synonymous_variant	56034	0	0					g.chr4:157689048G>A	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.798C>T	chr4.hg19:g.157689048G>A		0					PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_Intron	p.T266T	NM_016205.2	NP_057289.1	1	2	3	1.998139	Q9NRA1	PDGFC_HUMAN		5	1288	-	all_hematologic(180;0.24)	Renal(120;0.0458)	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	1	1	hg19	c.798C>T	CCDS3795.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	0	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-2.425801	0	0.170000				19	19		581	571	0		1	1		0	0	151	0		9.999892e-01	9.944168e-01	0	7	0	247	0	19	581
PDGFC	56034	broad.mit.edu	37	4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	27					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)			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)		AATTTACTACTCAGGTTGGAT	0.542											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000502773.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(79-81)Agt>Ggt		platelet derived growth factor C							121.0	124.0	123.0					4																	157891977		2203	4300	6503	SO:0001583	missense	56034	0	0					g.chr4:157891977T>C	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.79A>G	chr4.hg19:g.157891977T>C	ENSP00000422464:p.Ser27Gly	0		OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1789	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G	p.S27G	NM_016205.2	NP_057289.1	1	2	3	1.998139	Q9NRA1	PDGFC_HUMAN		1	569	-	all_hematologic(180;0.24)	Renal(120;0.0458)	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	1	1	hg19	c.79A>G	CCDS3795.1	1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164081	0.09287	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15952	2.44;2.38	5.12	3.94	0.45596	5.12	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.14056	0.0340	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.03807	-1.1002	10	0.87932	D	0	-15.015	10.526	0.44950	0.0:0.076:0.0:0.924	.	27	Q9NRA1	PDGFC_HUMAN	G	27	ENSP00000422464:S27G;ENSP00000410048:S27G	ENSP00000274071:S27G	S	-	1	0	0	PDGFC	158111427	158111427	1.000000	0.71417	0.944000	0.38274	0.010000	0.07245	3.812000	0.55628	0.805000	0.34159	0.377000	0.23210	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				71	69		299	298	1		1	1		0	0	82	0		1	1	0	14	0	297	0	71	299
CD38	952	broad.mit.edu	37	4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	264					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333																																						ENST00000226279.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(790-792)tCg>tTg		CD38 molecule							83.0	91.0	88.0					4																	15842113		2203	4300	6503	SO:0001583	missense	952	5	121410	41				g.chr4:15842113C>T	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.791C>T	chr4.hg19:g.15842113C>T	ENSP00000226279:p.Ser264Leu	0						p.S264L	NM_001775.2	NP_001766.2	1	2	3	1.998139	P28907	CD38_HUMAN		7	928	+			O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	1	1	hg19	c.791C>T	CCDS3417.1	1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554245	0.13374	.	.	ENSG00000004468	ENST00000226279	T	0.14516	2.5	5.16	-4.45	0.03546	5.16	-4.45	0.03546	NAD(P)-binding domain (1);	1.842590	0.02069	N	0.051380	T	0.09069	0.0224	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.10450	0.005	T	0.22800	-1.0206	10	0.27785	T	0.31	2.133	5.4561	0.16592	0.2315:0.2642:0.0:0.5043	.	264	P28907	CD38_HUMAN	L	264	ENSP00000226279:S264L	ENSP00000226279:S264L	S	+	2	0	0	CD38	15451211	15451211	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.692000	0.00391	-1.538000	0.01734	-0.827000	0.03088	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_001775			89	86		483	475	1		1	0		0	0	128	0		1	9.999452e-01	0	0	0	78	0	89	483
GLRB	2743	broad.mit.edu	37	4	158057850	158057850	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000509282.1_Splice_Site_p.R176K|GLRB_ENST00000541722.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	176					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTCAGCATGAGGTACTCTTTT	0.313																																						ENST00000264428.4	1.000000	0.210000	5.200000e-01	2.900000e-01	0.380000	0.426781	0.380000	0.370000																										0				27						c.(526-528)aGg>aAg		glycine receptor, beta	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)						102.0	104.0	103.0					4																	158057850		2203	4299	6502	SO:0001630	splice_region_variant	2743	0	0					g.chr4:158057850G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.527+1G>A	chr4.hg19:g.158057850G>A		0					GLRB_ENST00000509282.1_Splice_Site_p.R176K|GLRB_ENST00000541722.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron	p.R176K	NM_000824.4	NP_000815.1	1	2	3	1.998139	P48167	GLRB_HUMAN		5	797	+	all_hematologic(180;0.24)	Renal(120;0.0458)	A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	0	1	hg19	c.527G>A	CCDS3796.1	0	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999186	0.93227	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80994	-1.44;-1.44;-1.44	5.34	5.34	0.76211	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.73430	2.235	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.90671	0.4598	10	0.87932	D	0	.	19.0435	0.93011	0.0:0.0:1.0:0.0	.	176	P48167	GLRB_HUMAN	K	176	ENSP00000264428:R176K;ENSP00000441873:R176K;ENSP00000427186:R176K	ENSP00000264428:R176K	R	+	2	0	0	GLRB	158277300	158277300	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.807000	0.99171	2.487000	0.83934	0.557000	0.71058	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-2.752916	1	0.170000	NM_000824	Missense_Mutation		14	13		431	425	0		1	0		0	0	108	0		9.997344e-01	2.652891e-01	0	0	0	30	0	14	431
FAM198B	51313	broad.mit.edu	37	4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A	rs201753633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	296						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(886-888)aGc>aTc		family with sequence similarity 198, member B							64.0	70.0	68.0					4																	159091641		2203	4300	6503	SO:0001583	missense	51313	0	0					g.chr4:159091641C>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.887G>T	chr4.hg19:g.159091641C>A	ENSP00000296530:p.Ser296Ile	0		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	p.S296I	NM_016613.6	NP_057697.2	1	2	3	1.998139	Q6UWH4	F198B_HUMAN		2	1508	-			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	1	1	hg19	c.887G>T	CCDS3798.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658859	0.88154	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.079566	0.85682	D	0.000000	T	0.61899	0.2384	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.978	T	0.64605	-0.6368	10	0.72032	D	0.01	-22.296	19.2318	0.93843	0.0:1.0:0.0:0.0	.	296;296;296	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	I	296	ENSP00000296530:S296I;ENSP00000377396:S296I	ENSP00000296530:S296I	S	-	2	0	0	FAM198B	159311091	159311091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.536000	0.85505	0.558000	0.71614	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_001031700, NM_016613			76	76		377	376	1		1	0		0	0	79	0		1	1	0	0	0	175	0	76	377
FGFBP1	9982	broad.mit.edu	37	4	15937605	15937605	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517																																						ENST00000382333.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(649-651)acT>acG		fibroblast growth factor binding protein 1							132.0	135.0	134.0					4																	15937605		2203	4300	6503	SO:0001819	synonymous_variant	9982	0	0					g.chr4:15937605A>C	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.651T>G	chr4.hg19:g.15937605A>C		0					FGFBP1_ENST00000259988.2_Silent_p.T217T	p.T217T	NM_005130.4	NP_005121.1	1	2	3	1.998139	Q14512	FGFP1_HUMAN		3	945	-			A8K5J2	Silent	SNP	ENST00000382333.1	1	1	hg19	c.651T>G	CCDS3418.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000	NM_005130			137	136		641	634	1		1	1		0	0	155	0		1	8.711522e-01	0	17	0	2	0	137	641
FAM198B	51313	broad.mit.edu	37	4	159091910	159091910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000585682.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Silent_p.R206R|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGCTGTAGATCCTAATGTTGC	0.632											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8	1.000000	0.230000	5.600000e-01	3.100000e-01	0.410000	0.455060	0.410000	0.390000																										0				26						c.(616-618)agG>agA		family with sequence similarity 198, member B							53.0	58.0	56.0					4																	159091910		2203	4300	6503	SO:0001819	synonymous_variant	51313	0	0					g.chr4:159091910C>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.618G>A	chr4.hg19:g.159091910C>T		0		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000585682.1_Silent_p.R206R|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	p.R206R	NM_016613.6	NP_057697.2	1	2	3	1.998139	Q6UWH4	F198B_HUMAN		2	1239	-			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	1	1	hg19	c.618G>A	CCDS3798.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-13.621850	1	0.170000	NM_001031700, NM_016613			14	14		399	392	0		1	0		0	0	85	0		9.997339e-01	8.067349e-01	0	0	0	89	0	14	399
RXFP1	59350	broad.mit.edu	37	4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000307765.5	+	15	1543	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L	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	431					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)			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)		TGCATGCGACCTTATATCAGG	0.378																																						ENST00000307765.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1291-1293)cCt>cTt		relaxin/insulin-like family peptide receptor 1							125.0	117.0	120.0					4																	159566237		1880	4119	5999	SO:0001583	missense	59350	0	0					g.chr4:159566237C>T	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.1292C>T	chr4.hg19:g.159566237C>T	ENSP00000303248:p.Pro431Leu	0					RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L	p.P431L	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	1	2	3	1.998139	Q9HBX9	RXFP1_HUMAN		15	1543	+	all_hematologic(180;0.24)	Renal(120;0.0854)	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	1	1	hg19	c.1292C>T	CCDS43276.1	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654980	0.47467	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.76	4.03	0.46877	5.76	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.155348	0.64402	D	0.000014	T	0.08223	0.0205	N	0.00991	-1.07	0.50039	D	0.99984	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.02654	T	1	.	8.1939	0.31385	0.1294:0.7361:0.0:0.1345	.	442;458;326;383;398;350;301;431	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	350;431;326;383;398;301	ENSP00000423306:P350L;ENSP00000303248:P431L;ENSP00000414885:P326L;ENSP00000345889:P383L;ENSP00000420712:P398L	ENSP00000303248:P431L	P	+	2	0	0	RXFP1	159785687	159785687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.826000	0.62715	0.767000	0.33267	-0.244000	0.11960	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.028295	1	0.170000	NM_021634			90	90		386	379	1		1			0	0	70	0		1	0	0	0	0	0	0	90	386
C4orf46	201725	broad.mit.edu	37	4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672																																						ENST00000379205.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999892	0.990000	1.000000																										0				5						c.(82-84)Gca>Tca		chromosome 4 open reading frame 46							19.0	19.0	19.0					4																	159592872		2200	4298	6498	SO:0001583	missense	201725	0	0					g.chr4:159592872C>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.82G>T	chr4.hg19:g.159592872C>A	ENSP00000368503:p.Ala28Ser	0					C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|ETFDH_ENST00000511912.1_5'Flank|ETFDH_ENST00000307738.5_5'Flank	p.A28S	NM_001008393.2	NP_001008394.1	1	2	3	1.998139	Q504U0	CD046_HUMAN		1	326	-			B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	1	1	hg19	c.82G>T	CCDS34088.1	1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224322	0.39300	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	-2.98	0.05513	4.11	-2.98	0.05513	.	1.353090	0.05058	N	0.479411	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15350	-1.0440	9	0.23891	T	0.37	.	3.4512	0.07499	0.4545:0.2543:0.0:0.2912	.	28	Q504U0	CD046_HUMAN	S	28	.	ENSP00000368503:A28S	A	-	1	0	0	C4orf46	159812322	159812322	0.070000	0.21116	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.435000	0.07264	-0.222000	0.12452	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001008393			16	14		61	60	1		1	1		0	0	13	0		9.999528e-01	9.286905e-01	0	5	0	15	0	16	61
ETFDH	2110	broad.mit.edu	37	4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000511912.1	+	5	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	189					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358																																						ENST00000511912.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(565-567)Gcc>Acc		electron-transferring-flavoprotein dehydrogenase							129.0	131.0	130.0					4																	159606330		2203	4300	6503	SO:0001583	missense	2110	0	0					g.chr4:159606330G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.565G>A	chr4.hg19:g.159606330G>A	ENSP00000426638:p.Ala189Thr	0					ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	p.A189T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	1	2	3	1.998139	Q16134	ETFD_HUMAN		5	897	+	all_hematologic(180;0.24)	Renal(120;0.0458)	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	1	1	hg19	c.565G>A	CCDS3800.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009916	0.54361	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95821	-3.77;-3.82;-3.77	5.73	2.97	0.34412	5.73	2.97	0.34412	.	0.219823	0.47093	D	0.000260	D	0.93598	0.7956	M	0.77616	2.38	0.39314	D	0.96512	B;B;B	0.23591	0.031;0.012;0.088	B;B;B	0.25405	0.02;0.015;0.06	D	0.90089	0.4176	10	0.39692	T	0.17	-9.9469	7.7272	0.28767	0.0652:0.1201:0.6898:0.1248	.	142;128;189	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	189;24;142	ENSP00000426638:A189T;ENSP00000422735:A24T;ENSP00000303552:A142T	ENSP00000303552:A142T	A	+	1	0	0	ETFDH	159825780	159825780	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.621000	0.67743	0.772000	0.33382	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000				107	103		526	513	1		1	1		0	0	84	0		1	1	0	40	0	77	0	107	526
ETFDH	2110	broad.mit.edu	37	4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000511912.1	+	12	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	516					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438																																						ENST00000511912.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1546-1548)Ttt>Gtt		electron-transferring-flavoprotein dehydrogenase							198.0	187.0	191.0					4																	159627858		2203	4300	6503	SO:0001583	missense	2110	0	0					g.chr4:159627858T>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1546T>G	chr4.hg19:g.159627858T>G	ENSP00000426638:p.Phe516Val	0					ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	p.F516V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	1	2	3	1.998139	Q16134	ETFD_HUMAN		12	1878	+	all_hematologic(180;0.24)	Renal(120;0.0458)	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	1	1	hg19	c.1546T>G	CCDS3800.1	1	.	.	.	.	.	.	.	.	.	.	T	30	5.055411	0.93793	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94457	-3.43;-3.43	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	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;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-20.7069	16.0345	0.80612	0.0:0.0:0.0:1.0	.	469;455;516	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	V	516;469	ENSP00000426638:F516V;ENSP00000303552:F469V	ENSP00000303552:F469V	F	+	1	0	0	ETFDH	159847308	159847308	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.183000	0.69458	0.482000	0.46254	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	0		2	2	2	0		0	0	198		198	196	1	2.060000	-20.000000	1	0.170000				184	178		727	711	1		1	1		0	0	198	0		1	1	0	42	0	87	0	184	727
FGFBP2	83888	broad.mit.edu	37	4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	170						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602																																						ENST00000259989.6	1.000000	0.490000	7.600000e-01	5.600000e-01	0.650000	0.673767	0.650000	0.640000																										0				9						c.(508-510)Gaa>Aaa		fibroblast growth factor binding protein 2		C	LYS/GLU	0,4406		0,0,2203	159.0	149.0	153.0		508	-2.5	0.0	4	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FGFBP2	NM_031950.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	170/224	15964245	1,13005	2203	4300	6503	SO:0001583	missense	83888	4	121412	41				g.chr4:15964245C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.508G>A	chr4.hg19:g.15964245C>T	ENSP00000259989:p.Glu170Lys	0					FGFBP2_ENST00000509331.1_Intron	p.E170K	NM_031950.3	NP_114156.1	1	2	3	1.998139	Q9BYJ0	FGFP2_HUMAN		1	614	-				Missense_Mutation	SNP	ENST00000259989.6	1	1	hg19	c.508G>A	CCDS3419.1	0	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431820	0.12045	0.0	1.16E-4	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.53	-2.46	0.06461	2.53	-2.46	0.06461	.	.	.	.	.	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	9	0.02654	T	1	.	7.0495	0.25065	0.0:0.1959:0.0:0.8041	.	170	Q9BYJ0	FGFP2_HUMAN	K	170	ENSP00000259989:E170K	ENSP00000259989:E170K	E	-	1	0	0	FGFBP2	15573343	15573343	0.778000	0.28640	0.001000	0.08648	0.002000	0.02628	0.891000	0.28309	-0.611000	0.05709	-0.302000	0.09304	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	1	0	1		2	2	2	0		0	0	158		158	156	1	2.060000	-7.659827	1	0.170000	NM_031950			57	54		985	964	0		1	0		0	0	158	0		1	1.734798e-02	0	1	0	3	0	57	985
FGFBP2	83888	broad.mit.edu	37	4	15964616	15964616	+	Missense_Mutation	SNP	C	C	T	rs368622889		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964616C>T	ENST00000259989.6	-	1	243	c.137G>A	c.(136-138)cGt>cAt	p.R46H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	46						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGGGACGCATAGTGCA	0.597																																						ENST00000259989.6	1.000000	0.160000	5.100000e-01	2.400000e-01	0.350000	0.396895	0.350000	0.320000																										0				9						c.(136-138)cGt>cAt		fibroblast growth factor binding protein 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	59.0	62.0		137	0.9	0.0	4		62	0,8600		0,0,4300	no	missense	FGFBP2	NM_031950.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	46/224	15964616	1,13005	2203	4300	6503	SO:0001583	missense	83888	2	121412	34				g.chr4:15964616C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.137G>A	chr4.hg19:g.15964616C>T	ENSP00000259989:p.Arg46His	0					FGFBP2_ENST00000509331.1_Intron	p.R46H	NM_031950.3	NP_114156.1	1	2	3	1.998139	Q9BYJ0	FGFP2_HUMAN		1	243	-				Missense_Mutation	SNP	ENST00000259989.6	0	1	hg19	c.137G>A	CCDS3419.1	0	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063603	0.08388	2.27E-4	0.0	ENSG00000137441	ENST00000259989	T	0.15139	2.45	2.72	0.874	0.19124	2.72	0.874	0.19124	.	0.431013	0.19984	U	0.101701	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.20767	0.031	T	0.22800	-1.0206	10	0.49607	T	0.09	-4.2113	4.086	0.09947	0.0:0.5639:0.194:0.2421	.	46	Q9BYJ0	FGFP2_HUMAN	H	46	ENSP00000259989:R46H	ENSP00000259989:R46H	R	-	2	0	0	FGFBP2	15573714	15573714	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-1.167000	0.03126	0.125000	0.18397	-0.142000	0.14014	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	0	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-8.973038	1	0.170000	NM_031950			8	8		280	275	0		1			0	0	56	0		9.888687e-01	0	0	0	0	0	0	8	280
ETFDH	2110	broad.mit.edu	37	4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000511912.1	+	12	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	521					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438																																						ENST00000511912.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1561-1563)tCt>tAt		electron-transferring-flavoprotein dehydrogenase							188.0	177.0	181.0					4																	159627874		2203	4300	6503	SO:0001583	missense	2110	1	121412	39				g.chr4:159627874C>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1562C>A	chr4.hg19:g.159627874C>A	ENSP00000426638:p.Ser521Tyr	0					ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	p.S521Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	1	2	3	1.998139	Q16134	ETFD_HUMAN		12	1894	+	all_hematologic(180;0.24)	Renal(120;0.0458)	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	1	1	hg19	c.1562C>A	CCDS3800.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910147	0.92107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95949	-3.86;-3.86	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.97852	4.09	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	0.99372	1.0920	10	0.87932	D	0	-0.078	19.6878	0.95987	0.0:1.0:0.0:0.0	.	474;460;521	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Y	521;474	ENSP00000426638:S521Y;ENSP00000303552:S474Y	ENSP00000303552:S474Y	S	+	2	0	0	ETFDH	159847324	159847324	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	0		2	2	2	0		0	0	194		194	193	1	2.060000	-20.000000	1	0.170000				163	160		719	703	1		1	1		0	0	194	0		1	1	0	51	0	80	0	163	719
FNIP2	57600	broad.mit.edu	37	4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	757	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537																																						ENST00000264433.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(2269-2271)gTg>gCg		folliculin interacting protein 2							47.0	52.0	51.0					4																	159790058		1934	4141	6075	SO:0001583	missense	57600	0	0					g.chr4:159790058T>C	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2270T>C	chr4.hg19:g.159790058T>C	ENSP00000264433:p.Val757Ala	0					FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	p.V757A	NM_020840.1	NP_065891.1	1	2	3	1.998139	Q9P278	FNIP2_HUMAN		13	2345	+	all_hematologic(180;0.24)		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	1	1	hg19	c.2270T>C	CCDS47155.1	1	.	.	.	.	.	.	.	.	.	.	T	0.493	-0.874454	0.02550	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21031	2.04;2.03	5.13	-9.77	0.00500	5.13	-9.77	0.00500	.	3.600100	0.00424	N	0.000068	T	0.09069	0.0224	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	2.5952	0.04852	0.1927:0.3673:0.0982:0.3418	.	757	Q9P278	FNIP2_HUMAN	A	757;780	ENSP00000264433:V757A;ENSP00000368651:V780A	.	V	+	2	0	0	FNIP2	160009508	160009508	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.317000	0.01122	-2.063000	0.00890	-2.451000	0.00208	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_020840			71	70		337	336	1		1	1		0	0	85	0		1	9.999910e-01	0	19	0	63	0	71	337
RAPGEF2	9693	broad.mit.edu	37	4	160251584	160251584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	306	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)			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)		GGACTTTTCTTTCTAGCCCAA	0.383																																						ENST00000264431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(916-918)ctT>ctG		Rap guanine nucleotide exchange factor (GEF) 2							140.0	132.0	135.0					4																	160251584		1827	4079	5906	SO:0001819	synonymous_variant	9693	0	0					g.chr4:160251584T>G	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.918T>G	chr4.hg19:g.160251584T>G		0						p.L306L	NM_014247.2	NP_055062.1	1	2	3	1.998139	Q9Y4G8	RPGF2_HUMAN		7	1337	+	all_hematologic(180;0.24)		D3DP27	Silent	SNP	ENST00000264431.4	1	1	hg19	c.918T>G	CCDS43277.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_014247			97	96		458	437	1		1	1		0	0	98	0		1	9.903311e-01	0	17	0	19	0	97	458
RAPGEF2	9693	broad.mit.edu	37	4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	704					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)			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)		AGATGCTCAGGAGTTGTTGAG	0.398																																						ENST00000264431.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				70						c.(2110-2112)Gag>Aag		Rap guanine nucleotide exchange factor (GEF) 2							75.0	70.0	71.0					4																	160262774		1909	4136	6045	SO:0001583	missense	9693	0	0					g.chr4:160262774G>A	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.2110G>A	chr4.hg19:g.160262774G>A	ENSP00000264431:p.Glu704Lys	0						p.E704K	NM_014247.2	NP_055062.1	1	2	3	1.998139	Q9Y4G8	RPGF2_HUMAN		14	2529	+	all_hematologic(180;0.24)		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	1	1	hg19	c.2110G>A	CCDS43277.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549779	0.86127	.	.	ENSG00000109756	ENST00000264431	T	0.28666	1.6	5.76	5.76	0.90799	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.088202	0.85682	D	0.000000	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P	0.51057	0.941	P	0.49451	0.611	T	0.35599	-0.9782	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	704	Q9Y4G8	RPGF2_HUMAN	K	704	ENSP00000264431:E704K	ENSP00000264431:E704K	E	+	1	0	0	RAPGEF2	160482224	160482224	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.239905	1	0.170000	NM_014247			48	48		253	250	1		1	1		0	0	65	0		1	9.993815e-01	0	13	0	48	0	48	253
RAPGEF2	9693	broad.mit.edu	37	4	160273849	160273849	+	Missense_Mutation	SNP	C	C	A	rs546918296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160273849C>A	ENST00000264431.4	+	21	3814	c.3395C>A	c.(3394-3396)gCt>gAt	p.A1132D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1132	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.A1120V(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)		TATACTTTGGCTCCCAGTGGT	0.373																																						ENST00000264431.4	1.000000	0.170000	4.800000e-01	2.400000e-01	0.340000	0.384608	0.340000	0.320000																										1	Substitution - Missense(1)	p.A1120V(1)	kidney(1)	70						c.(3394-3396)gCt>gAt		Rap guanine nucleotide exchange factor (GEF) 2							95.0	89.0	91.0					4																	160273849		1878	4101	5979	SO:0001583	missense	9693	1	120824	31				g.chr4:160273849C>A	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.3395C>A	chr4.hg19:g.160273849C>A	ENSP00000264431:p.Ala1132Asp	0						p.A1132D	NM_014247.2	NP_055062.1	1	2	3	1.998139	Q9Y4G8	RPGF2_HUMAN		21	3814	+	all_hematologic(180;0.24)		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	0	1	hg19	c.3395C>A	CCDS43277.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.489606|1.489606	0.26686|0.26686	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000510253	T|.	0.38560|.	1.13|.	6.07|6.07	5.21|5.21	0.72293|0.72293	6.07|6.07	5.21|5.21	0.72293|0.72293	.|.	0.101183|.	0.64402|.	D|.	0.000002|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.36672|0.36672	1.1|1.1	0.48135|0.48135	D|D	0.999599|0.999599	B|.	0.27068|.	0.167|.	B|.	0.26202|.	0.067|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.44086|.	T|.	0.13|.	.|.	17.2077|17.2077	0.86922|0.86922	0.0:0.874:0.126:0.0|0.0:0.874:0.126:0.0	.|.	1132|.	Q9Y4G8|.	RPGF2_HUMAN|.	D|I	1132|189	ENSP00000264431:A1132D|.	ENSP00000264431:A1132D|.	A|L	+|+	2|1	0|0	0|0	RAPGEF2|RAPGEF2	160493299|160493299	160493299|160493299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.546000|1.546000	0.36179|0.36179	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GCT|CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	0	1		17	6	2	1		1	1	72		72	72	1	2.060000	-3.279962	1	0.170000	NM_014247			10	10		357	353	0		0	0		1	0	72	0		1.123722e-01	3.177425e-02	0	0	0	72	0	10	357
RAPGEF2	9693	broad.mit.edu	37	4	160275116	160275116	+	Silent	SNP	G	G	A	rs145873578	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160275116G>A	ENST00000264431.4	+	22	4505	c.4086G>A	c.(4084-4086)acG>acA	p.T1362T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1362					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)			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)		GTAGCCTAACGTCTGTGACTA	0.498													G|||	4	0.000798722	0.0008	0.0029	5008	,	,		18337	0.0		0.001	False		,,,				2504	0.0					ENST00000264431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4084-4086)acG>acA		Rap guanine nucleotide exchange factor (GEF) 2		G		8,3890		0,8,1941	45.0	46.0	45.0		4086	-12.3	0.0	4	dbSNP_134	45	31,8305		0,31,4137	no	coding-synonymous	RAPGEF2	NM_014247.2		0,39,6078	AA,AG,GG		0.3719,0.2052,0.3188		1362/1500	160275116	39,12195	1949	4168	6117	SO:0001819	synonymous_variant	9693	201	120844	54				g.chr4:160275116G>A	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.4086G>A	chr4.hg19:g.160275116G>A		0						p.T1362T	NM_014247.2	NP_055062.1	1	2	3	1.998139	Q9Y4G8	RPGF2_HUMAN		22	4505	+	all_hematologic(180;0.24)		D3DP27	Silent	SNP	ENST00000264431.4	1	0	hg19	c.4086G>A	CCDS43277.1	1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	4.702	0.130582	0.08981	0.002052	0.003719	ENSG00000109756	ENST00000505026	.	.	.	6.17	-12.3	0.00002	6.17	-12.3	0.00002	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.23620	N	0.997272	.	.	.	.	.	.	T	0.07558	-1.0766	4	.	.	.	.	3.8129	0.08804	0.1693:0.1463:0.4787:0.2057	.	.	.	.	I	297	.	.	V	+	1	0	0	RAPGEF2	160494566	160494566	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.319000	0.02702	-4.451000	0.00048	-1.814000	0.00607	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.466310	0	0.170000	NM_014247			58	58		226	223	1		1	1		0	0	63	0		1	9.999744e-01	0	14	0	50	0	58	226
TAPT1	202018	broad.mit.edu	37	4	16192999	16192999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	199					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483																																						ENST00000405303.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999841	0.990000	1.000000																										0				10						c.(595-597)atC>atA		transmembrane anterior posterior transformation 1							55.0	53.0	54.0					4																	16192999		1969	4165	6134	SO:0001819	synonymous_variant	202018	0	0					g.chr4:16192999G>T	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.597C>A	chr4.hg19:g.16192999G>T		0					TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000304584.8_Silent_p.I25I	p.I199I	NM_153365.2	NP_699196.2	1	2	3	1.998139	Q6NXT6	TAPT1_HUMAN		4	680	-			Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	1	1	hg19	c.597C>A	CCDS47030.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-20.000000	1	0.170000	NM_153365			13	13		41	40	1		1	1		0	0	10	0		9.997229e-01	9.999937e-01	0	22	0	64	0	13	41
RAPGEF2	9693	broad.mit.edu	37	4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1477					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)			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)		TCTGACCCGCGCCTCGCCCCC	0.532																																						ENST00000264431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4429-4431)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 2							40.0	44.0	43.0					4																	160277266		2082	4210	6292	SO:0001583	missense	9693	1	120980	27				g.chr4:160277266G>A	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.4430G>A	chr4.hg19:g.160277266G>A	ENSP00000264431:p.Arg1477His	0						p.R1477H	NM_014247.2	NP_055062.1	1	2	3	1.998139	Q9Y4G8	RPGF2_HUMAN		23	4849	+	all_hematologic(180;0.24)		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	1	1	hg19	c.4430G>A	CCDS43277.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259225	0.59321	.	.	ENSG00000109756	ENST00000264431	T	0.39592	1.07	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.078055	0.51477	D	0.000091	T	0.34366	0.0895	L	0.36672	1.1	0.45161	D	0.998174	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.56958	D	0.05	.	12.8136	0.57652	0.0787:0.0:0.9213:0.0	.	1477	Q9Y4G8	RPGF2_HUMAN	H	1477	ENSP00000264431:R1477H	ENSP00000264431:R1477H	R	+	2	0	0	RAPGEF2	160496716	160496716	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	4.472000	0.60189	2.330000	0.79161	0.563000	0.77884	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014247			39	39		157	154	1		1	1		0	0	51	0		1	9.999991e-01	0	15	0	76	0	39	157
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)		CCAAACAAGCCACTGTCCTGG	0.443																																						ENST00000306100.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(2410-2412)Ggc>Agc		follistatin-like 5							209.0	191.0	197.0					4																	162307033		2203	4300	6503	SO:0001583	missense	56884	0	0					g.chr4:162307033C>T	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.2410G>A	chr4.hg19:g.162307033C>T	ENSP00000305334:p.Gly804Ser	0					RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S	p.G804S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	1	2	3	1.998139	Q8N475	FSTL5_HUMAN		16	2846	-	all_hematologic(180;0.24)		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	1	1	hg19	c.2410G>A	CCDS3802.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930608	0.92389	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.044902	0.85682	N	0.000000	T	0.54287	0.1849	M	0.74467	2.265	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	0.55198	-0.8178	10	0.72032	D	0.01	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	804;803;794;803	ENSP00000305334:G804S;ENSP00000368462:G803S;ENSP00000389270:G794S;ENSP00000440409:G803S	ENSP00000305334:G804S	G	-	1	0	0	FSTL5	162526483	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	1	0	1		2	2	2	0		0	0	126		126	116	1	2.060000	-20.000000	1	0.170000	NM_020116			153	153		644	606	1		1			0	0	126	0		1	0	0	0	0	0	0	153	644
NPY1R	4886	broad.mit.edu	37	4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	377					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATTGTTGTTGATTTT	0.363																																						ENST00000296533.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1129-1131)aAc>aTc		neuropeptide Y receptor Y1							137.0	138.0	138.0					4																	164246480		2203	4300	6503	SO:0001583	missense	4886	0	0					g.chr4:164246480T>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1130A>T	chr4.hg19:g.164246480T>A	ENSP00000354652:p.Asn377Ile	0					NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	p.N377I	NM_000909.5	NP_000900.1	1	2	3	1.998139	P25929	NPY1R_HUMAN		3	1661	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	1	1	hg19	c.1130A>T	CCDS34089.1	1	.	.	.	.	.	.	.	.	.	.	-	3.699	-0.061899	0.07317	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.70631	-0.5;-0.07	4.7	1.89	0.25635	4.7	1.89	0.25635	.	0.953966	0.08718	N	0.903992	T	0.54695	0.1874	N	0.22421	0.69	0.26868	N	0.96781	B	0.22909	0.077	B	0.23018	0.043	T	0.40664	-0.9551	10	0.26408	T	0.33	.	8.1168	0.30948	0.0:0.3237:0.0:0.6763	.	377	P25929	NPY1R_HUMAN	I	377;134	ENSP00000354652:N377I;ENSP00000427284:N134I	ENSP00000354652:N377I	N	-	2	0	0	NPY1R	164465930	164465930	0.426000	0.25506	0.091000	0.20842	0.758000	0.43043	0.555000	0.23422	0.246000	0.21394	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				89	89		529	522	1		1	0		0	0	103	0		1	0	0	0	0	1	0	89	529
FAM53A	152877	broad.mit.edu	37	4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000308132.6	-	4	427	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	79						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667																																						ENST00000308132.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				10						c.(235-237)Gct>Act		family with sequence similarity 53, member A							7.0	7.0	7.0					4																	1657352		1854	3738	5592	SO:0001583	missense	152877	0	0					g.chr4:1657352C>T	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.235G>A	chr4.hg19:g.1657352C>T	ENSP00000310057:p.Ala79Thr	0					FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T	p.A79T	NM_001174070.1	NP_001167541.1	1	2	3	1.998139	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)	4	427	-		all_epithelial(65;0.206)|Breast(71;0.212)	Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	1	1	hg19	c.235G>A	CCDS33939.1	1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278835	0.40294	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.87	0.913	0.19354	2.87	0.913	0.19354	.	1.057190	0.07555	U	0.916117	T	0.36635	0.0974	L	0.46157	1.445	0.09310	N	1	P;D	0.58268	0.951;0.982	B;P	0.44518	0.32;0.452	T	0.20672	-1.0268	10	0.46703	T	0.11	-6.3993	5.2949	0.15747	0.5219:0.3708:0.0:0.1073	.	79;79	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	79	ENSP00000310057:A79T;ENSP00000419044:A79T;ENSP00000418243:A79T;ENSP00000426260:A79T;ENSP00000417615:A79T	ENSP00000310057:A79T	A	-	1	0	0	FAM53A	1627149	1627149	0.060000	0.20803	0.001000	0.08648	0.003000	0.03518	0.705000	0.25675	-0.275000	0.09219	-0.490000	0.04691	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_001013622			20	18		61	60	1		1	1		0	0	17	0		9.999976e-01	6.294965e-01	0	3	0	5	0	20	61
NPY1R	4886	broad.mit.edu	37	4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383																																						ENST00000296533.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1111-1113)Gca>Aca		neuropeptide Y receptor Y1							147.0	149.0	148.0					4																	164246499		2203	4300	6503	SO:0001583	missense	4886	0	0					g.chr4:164246499C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1111G>A	chr4.hg19:g.164246499C>T	ENSP00000354652:p.Ala371Thr	0					NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	p.A371T	NM_000909.5	NP_000900.1	1	2	3	1.998139	P25929	NPY1R_HUMAN		3	1642	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	1	1	hg19	c.1111G>A	CCDS34089.1	1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096279	0.20552	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.71103	-0.54;-0.06	5.69	2.95	0.34219	5.69	2.95	0.34219	.	0.436137	0.22431	N	0.060155	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14252	T	0.57	.	7.0591	0.25115	0.1217:0.6822:0.0:0.196	.	371	P25929	NPY1R_HUMAN	T	371;128	ENSP00000354652:A371T;ENSP00000427284:A128T	ENSP00000354652:A371T	A	-	1	0	0	NPY1R	164465949	164465949	0.014000	0.17966	0.201000	0.23476	0.943000	0.58893	0.049000	0.14099	0.722000	0.32252	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	0		2	2	2	1		1	0	127		127	126	1	2.060000	-20.000000	1	0.170000				101	102		637	629	1		1	0		1	0	127	0		1	1.910800e-02	0	0	0	2	0	101	637
TRIM60	166655	broad.mit.edu	37	4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	441	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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)		TATACTTTTAACGATTGTTTC	0.343																																						ENST00000512596.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1321-1323)aAc>aGc		tripartite motif containing 60							63.0	70.0	68.0					4																	165962546		2203	4300	6503	SO:0001583	missense	166655	1	121412	29				g.chr4:165962546A>G	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.1322A>G	chr4.hg19:g.165962546A>G	ENSP00000421142:p.Asn441Ser	0					TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S|TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S	p.N441S	NM_152620.2	NP_689833.1	1	2	3	1.998139	Q495X7	TRI60_HUMAN		3	1538	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	1	1	hg19	c.1322A>G	CCDS3808.1	1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.329548	0.01298	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.66995	-0.24;-0.24;-0.24	2.69	-5.28	0.02755	2.69	-5.28	0.02755	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.284280	0.06150	N	0.674012	T	0.31979	0.0814	N	0.02685	-0.53	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35773	-0.9775	10	0.05620	T	0.96	.	6.4852	0.22085	0.2125:0.2887:0.4988:0.0	.	441	Q495X7	TRI60_HUMAN	S	441	ENSP00000421142:N441S;ENSP00000426496:N441S;ENSP00000343765:N441S	ENSP00000343765:N441S	N	+	2	0	0	TRIM60	166181996	166181996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.427000	0.06999	-1.292000	0.02366	-0.256000	0.11100	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_152620			72	72		297	294	1		1			0	0	57	0		1	0	0	0	0	0	0	72	297
TMEM192	201931	broad.mit.edu	37	4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388																																						ENST00000306480.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(271-273)aaA>aaC		transmembrane protein 192							124.0	122.0	122.0					4																	166021946		1859	4099	5958	SO:0001583	missense	201931	0	0					g.chr4:166021946T>G	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.273A>C	chr4.hg19:g.166021946T>G	ENSP00000305069:p.Lys91Asn	0					TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	p.K91N	NM_001100389.1	NP_001093859.1	1	2	3	1.998139	Q8IY95	TM192_HUMAN		3	418	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	1	1	hg19	c.273A>C	CCDS43279.1	1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147221	0.37923	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	-0.0997	0.13623	5.31	-0.0997	0.13623	.	0.472269	0.27319	N	0.019914	T	0.41419	0.1158	L	0.57536	1.79	0.33843	D	0.631653	B	0.27351	0.176	B	0.21917	0.037	T	0.44772	-0.9306	9	0.22706	T	0.39	-1.2884	9.3717	0.38258	0.0:0.377:0.0:0.623	.	91	Q8IY95	TM192_HUMAN	N	91;87	.	ENSP00000305069:K91N	K	-	3	2	2	TMEM192	166241396	166241396	0.965000	0.33210	0.994000	0.49952	0.878000	0.50629	-0.079000	0.11357	0.116000	0.18110	0.402000	0.26972	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_152681			70	68		325	318	1		1	1		0	0	65	0		1	9.999387e-01	0	17	0	51	0	70	325
CPE	1363	broad.mit.edu	37	4	166388932	166388932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	199					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)			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)"""	GGATAGTGTACGTGAATGAGA	0.418																																						ENST00000402744.4	1.000000	0.270000	6.900000e-01	3.700000e-01	0.500000	0.538586	0.500000	0.480000																										0				26						c.(595-597)taC>taT		carboxypeptidase E	"""Insulin(DB00071)|Insulin Regular(DB00030)"						77.0	74.0	75.0					4																	166388932		2203	4300	6503	SO:0001819	synonymous_variant	1363	0	0					g.chr4:166388932C>T	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.597C>T	chr4.hg19:g.166388932C>T		0						p.Y199Y	NM_001873.2	NP_001864.1	1	2	3	1.998139	P16870	CBPE_HUMAN		3	877	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	1	1	hg19	c.597C>T	CCDS3810.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-4.100267	1	0.170000	NM_001873			12	12		282	269	0		1	0		0	0	44	0		9.989052e-01	9.998984e-01	0	0	0	403	0	12	282
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					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)			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)		ATACTTTATGGCGACTACATT	0.358																																						ENST00000357154.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(289-291)cgC>cgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							138.0	132.0	134.0					4																	167921568		2203	4300	6503	SO:0001819	synonymous_variant	50859	0	0					g.chr4:167921568G>A	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.291C>T	chr4.hg19:g.167921568G>A		0					SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000504953.1_Silent_p.R94R	p.R97R	NM_016950.2	NP_058646.2	1	2	3	1.998139	Q9BQ16	TICN3_HUMAN		5	428	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	1	1	hg19	c.291C>T	CCDS54817.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				79	79		429	422	1		1			0	0	84	0		1	0	0	0	0	0	0	79	429
DDX60	55601	broad.mit.edu	37	4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	853	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)		GTTTAAGGCATCATGACGATA	0.358																																						ENST00000393743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2557-2559)gAt>gCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84.0	79.0	81.0					4																	169194446		2203	4300	6503	SO:0001583	missense	55601	0	0					g.chr4:169194446T>G	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.2558A>C	chr4.hg19:g.169194446T>G	ENSP00000377344:p.Asp853Ala	0						p.D853A	NM_017631.5	NP_060101.3	1	2	3	1.998139	Q8IY21	DDX60_HUMAN		18	2849	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	1	1	hg19	c.2558A>C	CCDS34097.1	1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381296	0.42207	.	.	ENSG00000137628	ENST00000393743	T	0.14266	2.52	5.53	5.53	0.82687	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379178	0.24808	N	0.035430	T	0.25791	0.0628	L	0.40543	1.245	0.43308	D	0.995313	D	0.60575	0.988	P	0.60541	0.876	T	0.00597	-1.1652	10	0.36615	T	0.2	.	15.6094	0.76704	0.0:0.0:0.0:1.0	.	853	Q8IY21	DDX60_HUMAN	A	853	ENSP00000377344:D853A	ENSP00000377344:D853A	D	-	2	0	0	DDX60	169431021	169431021	0.989000	0.36119	0.096000	0.21009	0.004000	0.04260	5.030000	0.64128	2.225000	0.72522	0.460000	0.39030	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_017631			63	63		255	253	1		1	1		0	0	64	0		1	9.999993e-01	0	16	0	71	0	63	255
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70					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)			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)		CACAAGATAGCGTTCAACCAG	0.338																																						ENST00000393743.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(208-210)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							101.0	108.0	106.0					4																	169229212		2203	4300	6503	SO:0001583	missense	55601	6	121408	39				g.chr4:169229212C>T	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.209G>A	chr4.hg19:g.169229212C>T	ENSP00000377344:p.Arg70His	0					snoU13_ENST00000459352.1_RNA	p.R70H	NM_017631.5	NP_060101.3	1	2	3	1.998139	Q8IY21	DDX60_HUMAN		4	500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	1	1	hg19	c.209G>A	CCDS34097.1	1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	0	DDX60	169465787	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_017631			68	67		324	317	1		1	1		0	0	103	0		1	9.999994e-01	0	17	0	85	0	68	324
DDX60L	91351	broad.mit.edu	37	4	169292909	169292909	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1594							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		CTGTGCGCAGGATGACCTGAA	0.408																																						ENST00000511577.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998720	0.990000	1.000000																										0				43						c.(4780-4782)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							68.0	68.0	68.0					4																	169292909		2018	4175	6193	SO:0001819	synonymous_variant	91351	0	0					g.chr4:169292909G>T	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.4782C>A	chr4.hg19:g.169292909G>T		0					DDX60L_ENST00000260184.7_Silent_p.I1594I	p.I1594I			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		36	5029	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Silent	SNP	ENST00000511577.1	1	1	hg19	c.4782C>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_001012967			15	15		81	78	1		1	1		0	0	28	0		9.998948e-01	9.999928e-01	0	38	0	90	0	15	81
DDX60L	91351	broad.mit.edu	37	4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1370							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		ACCTTTGCCTTGGCATCCTCT	0.537																																						ENST00000511577.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(4108-4110)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							61.0	63.0	62.0					4																	169305771		2203	4297	6500	SO:0001583	missense	91351	0	0					g.chr4:169305771T>C	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.4108A>G	chr4.hg19:g.169305771T>C	ENSP00000422423:p.Lys1370Glu	0					DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E	p.K1370E			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		30	4355	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	0	1	hg19	c.4108A>G		1	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315678	0.01331	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17528	2.27;2.27	3.55	-2.16	0.07080	3.55	-2.16	0.07080	.	.	.	.	.	T	0.07007	0.0178	N	0.17379	0.485	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42396	-0.9454	9	0.06494	T	0.89	.	4.8972	0.13757	0.0:0.2244:0.2885:0.4871	.	1370	Q5H9U9	DDX6L_HUMAN	E	1370	ENSP00000260184:K1370E;ENSP00000422423:K1370E	ENSP00000260184:K1370E	K	-	1	0	0	DDX60L	169542346	169542346	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-0.047000	0.11963	-0.142000	0.11354	-0.461000	0.05368	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1		2	2	2	0		0	0	37		37	39	1	2.060000	-19.971700	1	0.170000	NM_001012967			31	30		115	110	1		1	1		0	0	37	0		1	9.999730e-01	0	13	0	53	0	31	115
DDX60L	91351	broad.mit.edu	37	4	169312748	169312748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1286	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		CAACAGATTTGCATGGCATGT	0.378																																						ENST00000511577.1	1.000000	0.830000	1	9.900000e-01	0.990000	0.989665	0.990000	1.000000																										0				43						c.(3856-3858)tgC>tgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							86.0	84.0	85.0					4																	169312748		1945	4195	6140	SO:0001819	synonymous_variant	91351	0	0					g.chr4:169312748G>A	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.3858C>T	chr4.hg19:g.169312748G>A		0					DDX60L_ENST00000505890.1_Silent_p.C1287C|DDX60L_ENST00000260184.7_Silent_p.C1286C	p.C1286C			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		29	4105	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Silent	SNP	ENST00000511577.1	1	1	hg19	c.3858C>T		1	.	.	.	.	.	.	.	.	.	.	G	7.532	0.658798	0.14645	.	.	ENSG00000181381	ENST00000514580	.	.	.	3.61	1.13	0.20643	3.61	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8765	0.24149	0.6716:0.0:0.3284:0.0	.	.	.	.	X	174	.	.	Q	-	1	0	0	DDX60L	169549323	169549323	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	1.312000	0.33574	0.273000	0.22049	-0.373000	0.07131	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-8.150193	1	0.170000	NM_001012967			10	11		64	62	1		1	1		0	0	23	0		9.973693e-01	9.984952e-01	0	19	0	62	0	10	64
DDX60L	91351	broad.mit.edu	37	4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1062							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		TTAATCCAATTTGTCAATTCT	0.303																																						ENST00000511577.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999689	0.990000	1.000000																										0				43						c.(3184-3186)Aat>Cat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							118.0	105.0	109.0					4																	169327130		1837	4120	5957	SO:0001583	missense	91351	0	0					g.chr4:169327130T>G	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.3184A>C	chr4.hg19:g.169327130T>G	ENSP00000422423:p.Asn1062His	0					DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H|DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H	p.N1062H			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		24	3431	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	1	1	hg19	c.3184A>C		1	.	.	.	.	.	.	.	.	.	.	T	8.303	0.820426	0.16678	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18338	2.22;2.22;2.22;2.89	3.83	1.18	0.20946	3.83	1.18	0.20946	.	1.533330	0.05234	U	0.510894	T	0.15132	0.0365	L	0.42245	1.32	0.09310	N	1	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.22601	0.04;0.027;0.04	T	0.33007	-0.9885	10	0.42905	T	0.14	.	4.1836	0.10387	0.0:0.1978:0.1758:0.6265	.	1062;1062;1062	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	1062;1062;1062;758	ENSP00000260184:N1062H;ENSP00000422423:N1062H;ENSP00000422202:N1062H;ENSP00000421026:N758H	ENSP00000260184:N1062H	N	-	1	0	0	DDX60L	169563705	169563705	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.160000	0.16462	0.343000	0.23821	0.460000	0.39030	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	0		2	2	2	0		0	0	20		20	19	1	2.060000	-11.765630	1	0.170000	NM_001012967			13	12		48	48	1		1	1		0	0	20	0		9.997015e-01	9.997623e-01	0	18	0	44	0	13	48
DDX60L	91351	broad.mit.edu	37	4	169327215	169327215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1033							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		GAATGAATTCCTCTGGACACA	0.289																																						ENST00000511577.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999547	0.990000	1.000000																										0				43						c.(3097-3099)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							67.0	59.0	61.0					4																	169327215		1807	4084	5891	SO:0001819	synonymous_variant	91351	0	0					g.chr4:169327215C>T	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.3099G>A	chr4.hg19:g.169327215C>T		0					DDX60L_ENST00000505890.1_Silent_p.E1033E|DDX60L_ENST00000260184.7_Silent_p.E1033E	p.E1033E			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		24	3346	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Silent	SNP	ENST00000511577.1	1	1	hg19	c.3099G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-3.028233	1	0.170000	NM_001012967			19	19		102	100	1		1	1		0	0	36	0		9.999938e-01	9.905806e-01	0	20	0	24	0	19	102
DDX60L	91351	broad.mit.edu	37	4	169343747	169343747	+	Silent	SNP	G	G	A	rs553072291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	724							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			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)		TCAAGTAATGGCCCATGTATT	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17879	0.0		0.0	False		,,,				2504	0.0					ENST00000511577.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				43						c.(2170-2172)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							112.0	119.0	117.0					4																	169343747		2129	4291	6420	SO:0001819	synonymous_variant	91351	4	121226	30				g.chr4:169343747G>A	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.2172C>T	chr4.hg19:g.169343747G>A		0					DDX60L_ENST00000505890.1_Silent_p.G724G|DDX60L_ENST00000260184.7_Silent_p.G724G	p.G724G			1	2	3	1.998139	Q5H9U9	DDX6L_HUMAN		16	2419	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Silent	SNP	ENST00000511577.1	1	1	hg19	c.2172C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_001012967			25	25		103	102	1		1	1		0	0	25	0		9.999999e-01	9.990089e-01	0	13	0	36	0	25	103
PALLD	23022	broad.mit.edu	37	4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000505667.1	+	2	640	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.T156M|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	156					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)			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)		AAGCCCAAAACGCCACATCAA	0.522									Pancreatic Cancer, Familial Clustering of				C|||	2	0.000399361	0.0	0.0	5008	,	,		18658	0.001		0.001	False		,,,				2504	0.0				Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000505667.1	1.000000	0.200000	5.000000e-01	2.700000e-01	0.370000	0.413936	0.370000	0.350000																										0				48						c.(466-468)aCg>aTg		palladin, cytoskeletal associated protein		C	MET/THR,MET/THR	0,4406		0,0,2203	49.0	57.0	54.0		467,467	2.8	0.0	4	dbSNP_132	54	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	81,81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	156/1124,156/1107	169433122	4,13002	2203	4300	6503	SO:0001583	missense	23022	33	121412	48	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	g.chr4:169433122C>T	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.467C>T	chr4.hg19:g.169433122C>T	ENSP00000425556:p.Thr156Met	0					PALLD_ENST00000261509.6_Missense_Mutation_p.T156M|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000335742.7_5'UTR	p.T156M			1	2	3	1.998139	Q8WX93	PALLD_HUMAN		2	640	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	1	1	hg19	c.467C>T	CCDS54818.1	0	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	12.62	1.993785	0.35131	0.0	4.65E-4	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63255	0.07;0.34;-0.03;-0.0	5.55	2.78	0.32641	5.55	2.78	0.32641	.	0.958654	0.08440	U	0.945659	T	0.43875	0.1267	N	0.14661	0.345	0.23346	N	0.997863	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.45353	T	0.12	.	7.1341	0.25519	0.1355:0.7201:0.0:0.1444	.	156;156	B7ZMM5;B2RTX2	.;.	M	156;156;135;33	ENSP00000261509:T156M;ENSP00000425556:T156M;ENSP00000423063:T135M;ENSP00000328945:T33M	ENSP00000261509:T156M	T	+	2	0	0	PALLD	169669697	169669697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	0.669000	0.31146	-0.198000	0.12761	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	0	0	0		2	2	2	0		0	0	95		95	92	1	2.060000	-12.306890	1	0.170000	NM_016081			13	13		417	409	0		1			0	0	95	0		9.994887e-01	0	0	0	0	0	0	13	417
SH3RF1	57630	broad.mit.edu	37	4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595					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)			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)		CTGGTTGTGCGCTGCAACTAG	0.532																																						ENST00000284637.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1783-1785)gCg>gTg		SH3 domain containing ring finger 1							44.0	49.0	47.0					4																	170037775		2198	4292	6490	SO:0001583	missense	57630	0	0					g.chr4:170037775G>A	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.1784C>T	chr4.hg19:g.170037775G>A	ENSP00000284637:p.Ala595Val	0					SH3RF1_ENST00000508685.1_5'UTR	p.A595V	NM_020870.3	NP_065921.2	1	2	3	1.998139	Q7Z6J0	SH3R1_HUMAN		10	2125	-		Prostate(90;0.00267)|Renal(120;0.0183)	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	1	1	hg19	c.1784C>T	CCDS34099.1	1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922011	0.17982	.	.	ENSG00000154447	ENST00000284637	T	0.12465	2.68	5.64	4.68	0.58851	5.64	4.68	0.58851	.	0.315261	0.39146	N	0.001448	T	0.09686	0.0238	N	0.25380	0.74	0.20489	N	0.999895	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	10	0.37606	T	0.19	-18.7954	9.7127	0.40256	0.1787:0.0:0.8213:0.0	.	595	Q7Z6J0	SH3R1_HUMAN	V	595	ENSP00000284637:A595V	ENSP00000284637:A595V	A	-	2	0	0	SH3RF1	170274350	170274350	0.984000	0.35163	0.977000	0.42913	0.003000	0.03518	1.641000	0.37197	2.653000	0.90120	0.555000	0.69702	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.229821	1	0.170000	NM_020870			64	63		340	335	1		1	1		0	0	85	0		1	1	0	56	0	92	0	64	340
SH3RF1	57630	broad.mit.edu	37	4	170043380	170043380	+	Missense_Mutation	SNP	G	G	A	rs181812660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170043380G>A	ENST00000284637.9	-	7	1558	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	406					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)			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)		GACAGTGGCAGCCAGGAGAGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17901	0.0		0.001	False		,,,				2504	0.0					ENST00000284637.9	1.000000	0.240000	8.900000e-01	3.900000e-01	0.590000	0.624257	0.590000	1.000000																										0				31						c.(1216-1218)gCt>gTt		SH3 domain containing ring finger 1							38.0	34.0	35.0					4																	170043380		2203	4299	6502	SO:0001583	missense	57630	1	121350	34				g.chr4:170043380G>A	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.1217C>T	chr4.hg19:g.170043380G>A	ENSP00000284637:p.Ala406Val	0					SH3RF1_ENST00000508685.1_5'UTR	p.A406V	NM_020870.3	NP_065921.2	1	2	3	1.998139	Q7Z6J0	SH3R1_HUMAN		7	1558	-		Prostate(90;0.00267)|Renal(120;0.0183)	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	0	1	hg19	c.1217C>T	CCDS34099.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.81	3.481472	0.63849	.	.	ENSG00000154447	ENST00000284637	T	0.13196	2.61	5.39	4.55	0.56014	5.39	4.55	0.56014	.	0.327832	0.36167	N	0.002745	T	0.13072	0.0317	L	0.36672	1.1	0.40992	D	0.984865	B	0.10296	0.003	B	0.10450	0.005	T	0.04565	-1.0942	10	0.30078	T	0.28	-9.2068	15.6616	0.77190	0.0:0.0:0.862:0.138	.	406	Q7Z6J0	SH3R1_HUMAN	V	406	ENSP00000284637:A406V	ENSP00000284637:A406V	A	-	2	0	0	SH3RF1	170279955	170279955	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	3.950000	0.56676	1.250000	0.43966	0.585000	0.79938	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-9.490149	1	0.170000	NM_020870			6	6		123	118	0		1	1		0	0	22	0		9.617248e-01	9.745244e-01	0	11	0	131	0	6	123
SH3RF1	57630	broad.mit.edu	37	4	170051308	170051308	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1						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)			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)		TTATATGAACCTGCCGAGAAA	0.408																																						ENST00000284637.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				31						c.e6-1		SH3 domain containing ring finger 1							25.0	26.0	26.0					4																	170051308		2203	4300	6503	SO:0001630	splice_region_variant	57630	0	0					g.chr4:170051308C>T	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.1069-1G>A	chr4.hg19:g.170051308C>T		0					SH3RF1_ENST00000508685.1_Splice_Site		NM_020870.3	NP_065921.2	1	2	3	1.998139	Q7Z6J0	SH3R1_HUMAN		6	1410	-		Prostate(90;0.00267)|Renal(120;0.0183)	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Splice_Site	SNP	ENST00000284637.9	1	1	hg19		CCDS34099.1	1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877903	0.51801	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.49	4.65	0.58169	5.49	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2401	0.65952	0.0:0.9284:0.0:0.0716	.	.	.	.	.	-1	.	.	.	-	.	.	.	SH3RF1	170287883	170287883	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.941000	0.75922	1.323000	0.45263	-0.142000	0.14014	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_020870	Intron		20	19		96	94	0		1	0		0	0	19	0		9.999968e-01	0	0	0	0	1	0	20	96
C4orf27	54969	broad.mit.edu	37	4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	83						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348																																						ENST00000393381.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(247-249)cCt>cTt		chromosome 4 open reading frame 27							114.0	122.0	119.0					4																	170671837		2203	4300	6503	SO:0001583	missense	54969	0	0					g.chr4:170671837G>A	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.248C>T	chr4.hg19:g.170671837G>A	ENSP00000406598:p.Pro83Leu	0						p.P83L	NM_017867.2	NP_060337.2	1	2	3	1.998139	Q9NWY4	CD027_HUMAN		3	323	-		Prostate(90;0.00601)|Renal(120;0.0183)		Missense_Mutation	SNP	ENST00000393381.2	1	1	hg19	c.248C>T	CCDS3813.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856558	0.71834	.	.	ENSG00000056050	ENST00000393381	T	0.73789	-0.78	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91841	0.5483	10	0.87932	D	0	0.6098	18.4262	0.90610	0.0:0.0:1.0:0.0	.	83	Q9NWY4	CD027_HUMAN	L	83	ENSP00000406598:P83L	ENSP00000406598:P83L	P	-	2	0	0	C4orf27	170908412	170908412	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.263000	0.78421	2.363000	0.80096	0.398000	0.26397	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_017867			100	98		597	584	1		1	1		0	0	164	0		1	9.999788e-01	0	25	0	67	0	100	597
MFAP3L	9848	broad.mit.edu	37	4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A	rs184358631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GAGTCGCTCCGCTTCAGAGAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0					ENST00000361618.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(883-885)Cgg>Tgg		microfibrillar-associated protein 3-like							45.0	44.0	44.0					4																	170912876		2203	4300	6503	SO:0001583	missense	9848	4	121412	36				g.chr4:170912876G>A	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.883C>T	chr4.hg19:g.170912876G>A	ENSP00000354583:p.Arg295Trp	0					MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W|RP11-6E9.4_ENST00000508955.1_RNA	p.R295W	NM_021647.6	NP_067679.6	1	2	3	1.998139	O75121	MFA3L_HUMAN		3	1190	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	1	1	hg19	c.883C>T	CCDS34103.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.62	2.291683	0.40594	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98968	-5.28;-2.39	5.41	4.53	0.55603	5.41	4.53	0.55603	.	0.053234	0.85682	D	0.000000	D	0.98551	0.9516	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99323	1.0907	10	0.72032	D	0.01	-15.6816	13.0861	0.59142	0.0:0.0:0.6621:0.3379	.	295	O75121	MFA3L_HUMAN	W	192;295	ENSP00000377307:R192W;ENSP00000354583:R295W	ENSP00000354583:R295W	R	-	1	2	2	MFAP3L	171149451	171149451	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	3.062000	0.49971	1.154000	0.42482	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.470673	1	0.170000	NM_021647			68	67		280	270	1		1	1		0	0	67	0		1	8.701497e-01	0	4	0	13	0	68	280
MFAP3L	9848	broad.mit.edu	37	4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T	rs547471341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000361618.3	-	2	389	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		ACACTCTTAGCGGTGGCTAGA	0.458																																						ENST00000361618.3	1.000000	0.600000	1	7.400000e-01	0.910000	0.887439	0.910000	1.000000																										0				22						c.(82-84)Gct>Act		microfibrillar-associated protein 3-like							105.0	104.0	104.0					4																	170926947		2203	4300	6503	SO:0001583	missense	9848	1	121412	32				g.chr4:170926947C>T	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.82G>A	chr4.hg19:g.170926947C>T	ENSP00000354583:p.Ala28Thr	0					MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T	p.A28T	NM_021647.6	NP_067679.6	1	2	3	1.998139	O75121	MFA3L_HUMAN		2	389	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	1	1	hg19	c.82G>A	CCDS34103.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491441	0.44249	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.88431	-1.83;-2.38;-2.38;-2.37;-2.05	5.58	4.74	0.60224	5.58	4.74	0.60224	.	0.260548	0.38381	N	0.001701	D	0.85137	0.5628	M	0.64997	1.995	0.34562	D	0.712501	P	0.50710	0.938	B	0.35607	0.206	D	0.88835	0.3308	10	0.38643	T	0.18	0.1232	14.6576	0.68844	0.1455:0.8545:0.0:0.0	.	28	O75121	MFA3L_HUMAN	T	28	ENSP00000354583:A28T;ENSP00000377305:A28T;ENSP00000422571:A28T;ENSP00000425303:A28T;ENSP00000426247:A28T	ENSP00000354583:A28T	A	-	1	0	0	MFAP3L	171163522	171163522	1.000000	0.71417	0.143000	0.22291	0.001000	0.01503	3.465000	0.53064	1.487000	0.48415	-0.152000	0.13540	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.318786	1	0.170000	NM_021647			24	24		291	282	0		1	0		0	0	55	0		9.999996e-01	2.740788e-01	0	1	0	12	0	24	291
GALNTL6	442117	broad.mit.edu	37	4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	404					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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512																																						ENST00000506823.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1210-1212)Cgg>Tgg		polypeptide N-acetylgalactosaminyltransferase-like 6							43.0	51.0	48.0					4																	173873248		2203	4300	6503	SO:0001583	missense	442117	0	0					g.chr4:173873248C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1210C>T	chr4.hg19:g.173873248C>T	ENSP00000423313:p.Arg404Trp	0					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	p.R404W	NM_001034845.2	NP_001030017.2	1	2	3	1.998139	Q49A17	GLTL6_HUMAN		10	1867	+			Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	1	1	hg19	c.1210C>T	CCDS34104.1	1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.387781	0.82902	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68903	-0.36;-0.36	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.80944	0.4721	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.83486	0.0067	10	0.87932	D	0	.	13.997	0.64409	0.1514:0.8486:0.0:0.0	.	404	Q49A17	GLTL6_HUMAN	W	404;387	ENSP00000423313:R404W;ENSP00000423827:R387W	ENSP00000423313:R404W	R	+	1	2	2	GALNTL6	174109823	174109823	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.742000	0.62103	2.582000	0.87167	0.297000	0.19635	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	1	0	1		2	2	2	0		0	0	73		73	70	1	2.060000	-2.187056	0	0.170000	NM_001034845			60	60		319	305	1		1	0		0	0	73	0		1	0	0	0	0	1	0	60	319
GALNT7	51809	broad.mit.edu	37	4	174169569	174169569	+	Missense_Mutation	SNP	G	G	A	rs79967711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174169569G>A	ENST00000265000.4	+	2	648	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	189					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)			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)		GGACCGCAGCGTCAATGACTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20714	0.001		0.0	False		,,,				2504	0.0					ENST00000265000.4	1.000000	0.110000	3.700000e-01	1.700000e-01	0.250000	0.304215	0.250000	0.230000																										0				19						c.(565-567)Gtc>Atc		polypeptide N-acetylgalactosaminyltransferase 7		G	ILE/VAL	0,4406		0,0,2203	77.0	74.0	75.0		565	0.6	1.0	4	dbSNP_131	75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GALNT7	NM_017423.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	189/658	174169569	1,13005	2203	4300	6503	SO:0001583	missense	51809	16	121404	45				g.chr4:174169569G>A	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.565G>A	chr4.hg19:g.174169569G>A	ENSP00000265000:p.Val189Ile	0					GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	p.V189I	NM_017423.2	NP_059119.2	1	2	3	1.998139	Q86SF2	GALT7_HUMAN		2	648	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	0	1	hg19	c.565G>A	CCDS3815.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.741	-0.262254	0.05791	0.0	1.16E-4	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.58940	0.3;0.3	5.93	0.628	0.17681	5.93	0.628	0.17681	.	0.330029	0.35040	N	0.003483	T	0.28632	0.0709	N	0.05259	-0.085	0.47407	D	0.999412	B	0.09022	0.002	B	0.04013	0.001	T	0.08330	-1.0727	10	0.10111	T	0.7	.	9.7357	0.40386	0.5395:0.0:0.4605:0.0	.	189	Q86SF2	GALT7_HUMAN	I	189	ENSP00000265000:V189I;ENSP00000427050:V189I	ENSP00000265000:V189I	V	+	1	0	0	GALNT7	174406144	174406144	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	1.925000	0.40074	0.139000	0.18822	-0.140000	0.14226	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.147864	1	0.170000	NM_017423			8	8		390	387	0		1	0		0	0	79	0		9.892034e-01	3.541164e-01	0	1	0	55	0	8	390
GALNT7	51809	broad.mit.edu	37	4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	494					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)			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)		ACCATATGGGGATATATCGGA	0.373																																						ENST00000265000.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1480-1482)Gat>Aat		polypeptide N-acetylgalactosaminyltransferase 7							92.0	92.0	92.0					4																	174235199		2203	4300	6503	SO:0001583	missense	51809	0	0					g.chr4:174235199G>A	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.1480G>A	chr4.hg19:g.174235199G>A	ENSP00000265000:p.Asp494Asn	0						p.D494N	NM_017423.2	NP_059119.2	1	2	3	1.998139	Q86SF2	GALT7_HUMAN		9	1563	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	1	1	hg19	c.1480G>A	CCDS3815.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444255|5.444255	0.96187|0.96187	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|T	0.66280|0.66995	-0.2|-0.24	5.6|5.6	5.6|5.6	0.85130|0.85130	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78027|0.78027	0.4219|0.4219	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.48921|.	0.595|.	T|T	0.79230|0.79230	-0.1889|-0.1889	10|7	0.46703|0.87932	T|D	0.11|0	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q86SF2|.	GALT7_HUMAN|.	N|E	494|64	ENSP00000265000:D494N|ENSP00000427341:G64E	ENSP00000265000:D494N|ENSP00000427341:G64E	D|G	+|+	1|2	0|0	0|0	GALNT7|GALNT7	174471774|174471774	174471774|174471774	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.885000|0.885000	0.51271|0.51271	9.869000|9.869000	0.99810|0.99810	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAT|GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	0	0	1		27	6	2	1		1	2	77		77	76	1	2.060000	-3.382970	1	0.170000	NM_017423			85	84		389	381	1		1	1		1	0	77	0		1	9.953692e-01	0	11	0	66	0	85	389
HMGB2	3148	broad.mit.edu	37	4	174254339	174254339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000438704.2_Silent_p.K59K|HMGB2_ENST00000446922.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2	59					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		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;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398																																						ENST00000296503.5	1.000000	0.810000	1	9.300000e-01	0.990000	0.976977	0.990000	1.000000																										0				14						c.(175-177)aaG>aaA		high mobility group box 2							125.0	127.0	126.0					4																	174254339		2203	4300	6503	SO:0001819	synonymous_variant	3148	0	0					g.chr4:174254339C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.177G>A	chr4.hg19:g.174254339C>T		0					HMGB2_ENST00000446922.2_Silent_p.K59K|HMGB2_ENST00000438704.2_Silent_p.K59K	p.K59K			1	2	3	1.998139	P26583	HMGB2_HUMAN		3	1050	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	1	1	hg19	c.177G>A	CCDS3816.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-14.847830	1	0.170000	NM_001130688			50	49		501	493	0		1	1		0	0	95	0		1	1	0	26	0	392	0	50	501
QDPR	5860	broad.mit.edu	37	4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	58					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTGAACGAGTCTGTCATTTTA	0.512																																						ENST00000281243.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(172-174)Gac>Aac		quinoid dihydropteridine reductase							121.0	103.0	109.0					4																	17510920		2203	4300	6503	SO:0001583	missense	5860	0	0					g.chr4:17510920C>T	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.172G>A	chr4.hg19:g.17510920C>T	ENSP00000281243:p.Asp58Asn	0					QDPR_ENST00000428702.2_Intron|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_Missense_Mutation_p.D58N	p.D58N	NM_000320.2	NP_000311.2	1	2	3	1.998139	P09417	DHPR_HUMAN		2	351	-			A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	1	1	hg19	c.172G>A	CCDS3421.1	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992680	0.54041	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.95949	-3.46;-3.86;-3.46	5.52	5.52	0.82312	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.172007	0.49916	D	0.000135	D	0.93122	0.7810	L	0.45581	1.43	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	D	0.89649	0.3868	10	0.17832	T	0.49	-14.759	19.0666	0.93114	0.0:1.0:0.0:0.0	.	58	P09417	DHPR_HUMAN	N	58	ENSP00000422759:D58N;ENSP00000281243:D58N;ENSP00000426377:D58N	ENSP00000281243:D58N	D	-	1	0	0	QDPR	17120018	17120018	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	6.759000	0.74934	2.585000	0.87301	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000320			36	34		170	164	1		1	1		0	0	49	0		1	9.999992e-01	0	33	0	75	0	36	170
HAND2	9464	broad.mit.edu	37	4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000503474.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		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;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612																																						ENST00000359562.4	1.000000	0.330000	6.300000e-01	4.100000e-01	0.500000	0.536570	0.500000	0.500000																										0				13						c.(424-426)Cgc>Tgc		heart and neural crest derivatives expressed 2							163.0	151.0	155.0					4																	174450017		2203	4300	6503	SO:0001583	missense	9464	0	0					g.chr4:174450017G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.424C>T	chr4.hg19:g.174450017G>A	ENSP00000352565:p.Arg142Cys	0					HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA	p.R142C	NM_021973.2	NP_068808.1	1	2	3	1.998139	P61296	HAND2_HUMAN		1	1363	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	1	1	hg19	c.424C>T	CCDS3819.1	0	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574715	0.65878	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98280	-4.84	4.72	3.87	0.44632	4.72	3.87	0.44632	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	D	0.000001	D	0.99180	0.9716	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-18.2081	14.3353	0.66584	0.0:0.0:0.8507:0.1493	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	C	142;111;90	ENSP00000352565:R142C	ENSP00000352565:R142C	R	-	1	0	0	HAND2	174686592	174686592	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.410000	0.73294	1.186000	0.42985	-0.314000	0.08810	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-3.879438	1	0.170000				27	26		617	595	0		1	0		0	0	116	0		9.999999e-01	9.999837e-01	0	0	0	391	0	27	617
GLRA3	8001	broad.mit.edu	37	4	175564991	175564991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGATAACCCAGTAGAAAATAT	0.398																																						ENST00000274093.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1339-1341)taC>taT		glycine receptor, alpha 3	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)						79.0	86.0	84.0					4																	175564991		2203	4300	6503	SO:0001819	synonymous_variant	8001	0	0					g.chr4:175564991G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1341C>T	chr4.hg19:g.175564991G>A		0					GLRA3_ENST00000340217.5_Silent_p.Y432Y	p.Y447Y	NM_006529.2	NP_006520.2	1	2	3	1.998139	O75311	GLRA3_HUMAN		10	1843	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	1	1	hg19	c.1341C>T	CCDS3822.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				101	97		537	522	1		1			0	0	81	0		1	0	0	0	0	0	0	101	537
LAP3	51056	broad.mit.edu	37	4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	110					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)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443																																						ENST00000226299.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999840	0.990000	1.000000																										0				20						c.(328-330)Gaa>Aaa		leucine aminopeptidase 3							100.0	94.0	96.0					4																	17583965		2203	4300	6503	SO:0001583	missense	51056	1	121412	23				g.chr4:17583965G>A	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.328G>A	chr4.hg19:g.17583965G>A	ENSP00000226299:p.Glu110Lys	0					LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	p.E110K	NM_015907.2	NP_056991.2	1	2	3	1.998139	P28838	AMPL_HUMAN		4	602	+			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	1	1	hg19	c.328G>A	CCDS3422.1	1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385022	0.42308	.	.	ENSG00000002549	ENST00000226299	T	0.44083	0.93	5.65	4.79	0.61399	5.65	4.79	0.61399	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.634572	0.18480	N	0.139980	T	0.36524	0.0970	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-6.8573	15.4441	0.75216	0.0:0.39:0.61:0.0	.	110	P28838	AMPL_HUMAN	K	110	ENSP00000226299:E110K	ENSP00000226299:E110K	E	+	1	0	0	LAP3	17193063	17193063	0.985000	0.35326	0.104000	0.21259	0.937000	0.57800	2.303000	0.43646	1.485000	0.48380	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.048688	1	0.170000				25	23		139	137	1		1	1		0	0	29	0		9.999999e-01	1	0	237	0	878	0	25	139
GLRA3	8001	broad.mit.edu	37	4	175636706	175636706	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	169					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGGACAGGAAAGTGTTAATG	0.289																																						ENST00000274093.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(505-507)ctT>ctG		glycine receptor, alpha 3	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)						72.0	75.0	74.0					4																	175636706		2203	4293	6496	SO:0001819	synonymous_variant	8001	0	0					g.chr4:175636706A>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.507T>G	chr4.hg19:g.175636706A>C		0					GLRA3_ENST00000340217.5_Silent_p.L169L	p.L169L	NM_006529.2	NP_006520.2	1	2	3	1.998139	O75311	GLRA3_HUMAN		5	1009	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	1	1	hg19	c.507T>G	CCDS3822.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				64	61		213	208	1		1	0		0	0	66	0		1	5.491551e-02	0	0	0	2	0	64	213
ADAM29	11086	broad.mit.edu	37	4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3	1.000000	0.640000	1	8.100000e-01	0.990000	0.933020	0.990000	1.000000																										0				93						c.(1975-1977)gGa>gTa		ADAM metallopeptidase domain 29							45.0	45.0	45.0					4																	175898652		2203	4300	6503	SO:0001583	missense	11086	0	0					g.chr4:175898652G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1976G>T	chr4.hg19:g.175898652G>T	ENSP00000352177:p.Gly659Val	0					ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|RP13-577H12.2_ENST00000507525.1_RNA	p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	1	2	3	1.998139	Q9UKF5	ADA29_HUMAN		5	2646	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	1	1	hg19	c.1976G>T	CCDS3823.1	1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497916	0.44455	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	3.32	3.32	0.38043	3.32	3.32	0.38043	.	0.000000	0.34362	U	0.004024	D	0.89022	0.6597	M	0.84219	2.685	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.89814	0.3984	9	.	.	.	.	12.9119	0.58184	0.0:0.0:1.0:0.0	.	659	Q9UKF5	ADA29_HUMAN	V	659	ENSP00000352177:G659V;ENSP00000414544:G659V;ENSP00000384229:G659V;ENSP00000423517:G659V	.	G	+	2	0	0	ADAM29	176135227	176135227	1.000000	0.71417	0.984000	0.44739	0.355000	0.29361	7.100000	0.76989	2.150000	0.67090	0.643000	0.83706	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				20	20		215	211	0		1			0	0	58	0		9.999955e-01	0	0	0	0	0	0	20	215
ADAM29	11086	broad.mit.edu	37	4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	794	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2380-2382)caG>caT		ADAM metallopeptidase domain 29							153.0	143.0	146.0					4																	175899058		2203	4300	6503	SO:0001583	missense	11086	0	0					g.chr4:175899058G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2382G>T	chr4.hg19:g.175899058G>T	ENSP00000352177:p.Gln794His	0					ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA	p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	1	2	3	1.998139	Q9UKF5	ADA29_HUMAN		5	3052	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	1	1	hg19	c.2382G>T	CCDS3823.1	1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152653	0.21371	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	0.727	0.18254	0.727	0.727	0.18254	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.22835	N	0.998676	D	0.54964	0.969	P	0.52909	0.713	T	0.52328	-0.8590	8	.	.	.	.	4.5501	0.12108	0.0:0.4193:0.5806:0.0	.	794	Q9UKF5	ADA29_HUMAN	H	794	ENSP00000352177:Q794H;ENSP00000414544:Q794H;ENSP00000384229:Q794H;ENSP00000423517:Q794H	.	Q	+	3	2	2	ADAM29	176135633	176135633	0.001000	0.12720	0.031000	0.17742	0.054000	0.15201	0.177000	0.16801	0.675000	0.31264	0.297000	0.19635	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	153		153	150	1	2.060000	-3.019641	1	0.170000				119	116		617	589	1		1			0	0	153	0		1	0	0	0	0	0	0	119	617
GPM6A	2823	broad.mit.edu	37	4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	174					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448																																						ENST00000280187.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(520-522)tgC>tgA		glycoprotein M6A							145.0	136.0	139.0					4																	176573004		2203	4300	6503	SO:0001587	stop_gained	2823	0	0					g.chr4:176573004G>T		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.522C>A	chr4.hg19:g.176573004G>T	ENSP00000280187:p.Cys174*	0					GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*	p.C174*	NM_005277.4	NP_005268.1	1	2	3	1.998139	P51674	GPM6A_HUMAN		5	567	-		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)	B7Z642|E9PHI5|Q92602	Nonsense_Mutation	SNP	ENST00000280187.7	0	1	hg19	c.522C>A	CCDS3824.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.723191	0.96847	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	.	.	.	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9161	14.235	0.65919	0.0712:0.0:0.9288:0.0	.	.	.	.	X	174;174;163;167;166;111;111	.	ENSP00000280187:C174X	C	-	3	2	2	GPM6A	176809998	176809998	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	6.327000	0.72910	2.822000	0.97130	0.650000	0.86243	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000				60	57		352	346	1		1	0		0	0	92	0		1	8.093670e-01	0	0	0	20	0	60	352
WDR17	116966	broad.mit.edu	37	4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000280190.4	+	14	1958	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y|WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y|WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	601										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)		CAGGATGCTTGCATCAATATT	0.363																																						ENST00000280190.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1801-1803)tGc>tAc		WD repeat domain 17							167.0	164.0	165.0					4																	177069319		2203	4300	6503	SO:0001583	missense	116966	0	0					g.chr4:177069319G>A	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.1802G>A	chr4.hg19:g.177069319G>A	ENSP00000280190:p.Cys601Tyr	0					WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y	p.C601Y			1	2	3	1.998139	Q8IZU2	WDR17_HUMAN		14	1958	+		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)	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	1	1	hg19	c.1802G>A	CCDS3825.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471884	0.84533	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63255	-0.03;-0.03;-0.03	5.77	5.77	0.91146	5.77	5.77	0.91146	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	0.80363	0.4609	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79497	-0.1779	10	0.49607	T	0.09	-13.2668	19.9915	0.97366	0.0:0.0:1.0:0.0	.	577;601	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	577;577;601;584	ENSP00000422763:C577Y;ENSP00000377258:C577Y;ENSP00000280190:C601Y	ENSP00000280190:C601Y	C	+	2	0	0	WDR17	177306313	177306313	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-20.000000	1	0.170000				130	127		525	522	1		1	1		0	0	110	0		1	4.940144e-01	0	2	0	6	0	130	525
WDR17	116966	broad.mit.edu	37	4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000280190.4	+	18	2680	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR17_ENST00000508596.1_Missense_Mutation_p.L818I|WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	842										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)		TATGGTTGAACTTGGAGAGGT	0.328																																						ENST00000280190.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				92						c.(2524-2526)Ctt>Att		WD repeat domain 17							91.0	90.0	91.0					4																	177073110		2203	4300	6503	SO:0001583	missense	116966	0	0					g.chr4:177073110C>A	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.2524C>A	chr4.hg19:g.177073110C>A	ENSP00000280190:p.Leu842Ile	0					WDR17_ENST00000507824.2_Missense_Mutation_p.L825I|WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I	p.L842I			1	2	3	1.998139	Q8IZU2	WDR17_HUMAN		18	2680	+		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)	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	1	1	hg19	c.2524C>A	CCDS3825.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980614|2.980614	0.53827|0.53827	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60424|.	0.23;0.25;0.19|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71921|0.71921	0.3397|0.3397	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.921;0.999;0.999|.	B;D;D|.	0.77557|.	0.346;0.99;0.99|.	T|T	0.68014|0.68014	-0.5521|-0.5521	10|5	0.33141|.	T|.	0.24|.	-22.248|-22.248	19.5608|19.5608	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;842|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	I|N	818;818;842;825|84	ENSP00000422763:L818I;ENSP00000377258:L818I;ENSP00000280190:L842I|.	ENSP00000280190:L842I|.	L|T	+|+	1|2	0|0	0|0	WDR17|WDR17	177310104|177310104	177310104|177310104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.398000|7.398000	0.79919|0.79919	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	CTT|ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000				44	44		222	215	1		1	1		0	0	50	0		1	1.349498e-01	0	2	0	2	0	44	222
ASB5	140458	broad.mit.edu	37	4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A	rs371144681		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000296525.3	-	6	817	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	235					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					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)		ATGTAATGGAGTATCCCAATA	0.388																																						ENST00000296525.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(703-705)aCt>aTt		ankyrin repeat and SOCS box containing 5		G	ILE/THR	0,4406		0,0,2203	194.0	186.0	189.0		704	4.6	1.0	4		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/330	177138127	1,13005	2203	4300	6503	SO:0001583	missense	140458	1	121412	34				g.chr4:177138127G>A	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.704C>T	chr4.hg19:g.177138127G>A	ENSP00000296525:p.Thr235Ile	0					ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	p.T235I	NM_080874.3	NP_543150.1	1	2	3	1.998139	Q8WWX0	ASB5_HUMAN		6	817	-		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)	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	1	1	hg19	c.704C>T	CCDS3827.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476462	0.84640	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.85484	-0.24;-1.99	5.45	4.55	0.56014	5.45	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.217812	0.47852	D	0.000203	D	0.92364	0.7577	M	0.87328	2.875	0.58432	D	0.999997	D;D	0.64830	0.989;0.994	P;D	0.63033	0.832;0.91	D	0.93496	0.6840	10	0.87932	D	0	-28.1797	16.0115	0.80406	0.0:0.1344:0.8656:0.0	.	235;182	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	I	235;182	ENSP00000296525:T235I;ENSP00000422877:T182I	ENSP00000296525:T235I	T	-	2	0	0	ASB5	177375121	177375121	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	7.124000	0.77185	2.712000	0.92718	0.591000	0.81541	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1	1	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000				149	145		642	634	1		1			0	0	133	0		1	0	0	0	0	0	0	149	642
SPCS3	60559	broad.mit.edu	37	4	177249379	177249379	+	Silent	SNP	T	T	G	rs377141735		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	147					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)			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)		TGACCCTGTCTTGGAACGTCG	0.363																																						ENST00000503362.1	1.000000	0.210000	6.300000e-01	3.100000e-01	0.440000	0.480880	0.440000	0.410000																										0				2						c.(439-441)tcT>tcG		signal peptidase complex subunit 3 homolog (S. cerevisiae)		T		0,3706		0,0,1853	113.0	104.0	107.0		441	3.2	1.0	4		107	1,8185		0,1,4092	no	coding-synonymous	SPCS3	NM_021928.3		0,1,5945	GG,GT,TT		0.0122,0.0,0.0084		147/181	177249379	1,11891	1853	4093	5946	SO:0001819	synonymous_variant	60559	0	0					g.chr4:177249379T>G	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.441T>G	chr4.hg19:g.177249379T>G		0					SPCS3_ENST00000507001.1_3'UTR	p.S147S	NM_021928.3	NP_068747.1	1	2	3	1.998139	P61009	SPCS3_HUMAN		5	554	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	1	1	hg19	c.441T>G	CCDS54823.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-10.678090	1	0.170000	NM_021928			9	9		247	244	0		1	1		0	0	47	0		9.941432e-01	9.995451e-01	0	17	0	395	0	9	247
NEIL3	55247	broad.mit.edu	37	4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					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)			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)		CATGAAAATGATACGTGATTT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(673-675)Ata>Gta	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	93.0	88.0	90.0		673	3.0	0.8	4	dbSNP_134	90	0,8600		0,0,4300	no	missense	NEIL3	NM_018248.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	225/606	178260982	1,13005	2203	4300	6503	SO:0001583	missense	55247	5	121406	39				g.chr4:178260982A>G	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.673A>G	chr4.hg19:g.178260982A>G	ENSP00000264596:p.Ile225Val	0						p.I225V	NM_018248.2	NP_060718	1	2	3	1.998139	Q8TAT5	NEIL3_HUMAN		5	791	+		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)	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	1	1	hg19	c.673A>G	CCDS3828.1	1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273946	0.23221	2.27E-4	0.0	ENSG00000109674	ENST00000264596	T	0.21191	2.02	5.49	3.01	0.34805	5.49	3.01	0.34805	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.561376	0.19738	N	0.107190	T	0.15132	0.0365	L	0.42632	1.34	0.28203	N	0.92729	B	0.11235	0.004	B	0.14023	0.01	T	0.35251	-0.9796	10	0.07325	T	0.83	-0.6797	9.803	0.40775	0.8597:0.0:0.1403:0.0	.	225	Q8TAT5	NEIL3_HUMAN	V	225	ENSP00000264596:I225V	ENSP00000264596:I225V	I	+	1	0	0	NEIL3	178497976	178497976	0.993000	0.37304	0.790000	0.31976	0.987000	0.75469	2.884000	0.48562	0.359000	0.24239	0.455000	0.32223	ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_018248			48	48		164	161	1		1	1		0	0	28	0		1	6.990093e-01	0	2	0	8	0	48	164
NEIL3	55247	broad.mit.edu	37	4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	247					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)			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)		AAACACTATAAGGTTTACAAG	0.408								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(739-741)aAg>aCg	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							87.0	81.0	83.0					4																	178262667		2203	4300	6503	SO:0001583	missense	55247	0	0					g.chr4:178262667A>C	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.740A>C	chr4.hg19:g.178262667A>C	ENSP00000264596:p.Lys247Thr	0					RP11-376O6.2_ENST00000506895.1_RNA	p.K247T	NM_018248.2	NP_060718	1	2	3	1.998139	Q8TAT5	NEIL3_HUMAN		6	858	+		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)	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	1	1	hg19	c.740A>C	CCDS3828.1	1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811025	0.50421	.	.	ENSG00000109674	ENST00000264596	T	0.13657	2.57	5.76	4.6	0.57074	5.76	4.6	0.57074	Zinc finger, DNA glycosylase/AP lyase-type (1);Ribosomal protein S13-like, H2TH (1);	0.104491	0.64402	D	0.000004	T	0.34483	0.0899	M	0.75264	2.295	0.49483	D	0.999798	D	0.89917	1.0	D	0.74674	0.984	T	0.05971	-1.0853	10	0.56958	D	0.05	-14.7212	11.2119	0.48804	0.9289:0.0:0.0711:0.0	.	247	Q8TAT5	NEIL3_HUMAN	T	247	ENSP00000264596:K247T	ENSP00000264596:K247T	K	+	2	0	0	NEIL3	178499661	178499661	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.990000	0.56965	2.202000	0.70862	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_018248			65	65		226	219	1		1	1		0	0	52	0		1	4.041406e-01	0	2	0	4	0	65	226
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					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)			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)		TCATGACCACGATCATCTTCT	0.373																																						ENST00000264595.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				16						c.(604-606)Cgt>Tgt		aspartylglucosaminidase							134.0	128.0	130.0					4																	178358577		2203	4300	6503	SO:0001583	missense	175	1	121412	27				g.chr4:178358577G>A	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.604C>T	chr4.hg19:g.178358577G>A	ENSP00000264595:p.Arg202Cys	0					AGA_ENST00000506853.1_5'UTR	p.R202C	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	1	2	3	1.998139	P20933	ASPG_HUMAN		5	731	-		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)	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	1	1	hg19	c.604C>T	CCDS3829.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560688	0.27827	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.88277	-2.36;-1.92	5.53	-2.69	0.06022	5.53	-2.69	0.06022	.	0.903450	0.09711	N	0.765684	D	0.87962	0.6310	M	0.74647	2.275	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.76594	-0.2902	10	0.42905	T	0.14	-21.2794	16.0354	0.80625	0.1574:0.0:0.8426:0.0	.	202	P20933	ASPG_HUMAN	C	202;87	ENSP00000264595:R202C;ENSP00000423798:R87C	ENSP00000264595:R202C	R	-	1	0	0	AGA	178595571	178595571	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.352000	0.34033	-0.276000	0.09206	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-17.728420	1	0.170000	NM_000027			32	30		164	162	1		1	1		0	0	51	0		1	9.999998e-01	0	17	0	116	0	32	164
FGFR3	2261	broad.mit.edu	37	4	1801214	1801214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	ENST00000260795.2	+	2	445	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	115	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCGGCTCACGCAGCGCGTACT	0.697		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000260795.2	1.000000	0.310000	1	5.400000e-01	0.890000	0.812058	0.890000	1.000000		1		Dom	yes			Dom	yes		4	4p16.3	4p16.3	2261	Mis, T	fibroblast growth factor receptor 3	yes	yes	Hypochondroplasia, Thanatophoric dysplasia	"""L, E"""	L, E	IGH@, ETV6		bladder, MM, T-cell lymphoma		0				3091						c.(343-345)Cag>Tag		fibroblast growth factor receptor 3	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)																																			SO:0001587	stop_gained	2261	0	0		Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	g.chr4:1801214C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.343C>T	chr4.hg19:g.1801214C>T	ENSP00000260795:p.Gln115*	0					FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*	p.Q115*			1	2	3	1.998139	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	2	445	+		Breast(71;0.212)|all_epithelial(65;0.241)	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Nonsense_Mutation	SNP	ENST00000260795.2	0	1	hg19	c.343C>T	CCDS3353.1	1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463235	0.43736	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	.	.	.	3.45	3.45	0.39498	3.45	3.45	0.39498	.	0.418094	0.24249	N	0.040184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.8206	0.35023	0.2245:0.7755:0.0:0.0	.	.	.	.	X	115	.	ENSP00000260795:Q115X	Q	+	1	0	0	FGFR3	1771012	1771012	0.000000	0.05858	0.058000	0.19502	0.197000	0.23852	-0.292000	0.08332	1.855000	0.53841	0.407000	0.27541	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-10.500810	1	0.170000	NM_000142			4	4		53	53	0		1	0		0	0	8	0		8.927914e-01	5.082081e-01	0	0	0	21	0	4	53
FGFR3	2261	broad.mit.edu	37	4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000260795.2	+	7	1054	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	318	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TAACACCACCGACAAGGAGCT	0.607		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000260795.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000		1		Dom	yes			Dom	yes		4	4p16.3	4p16.3	2261	Mis, T	fibroblast growth factor receptor 3	yes	yes	Hypochondroplasia, Thanatophoric dysplasia	"""L, E"""	L, E	IGH@, ETV6		bladder, MM, T-cell lymphoma		0				3091						c.(952-954)Gac>Aac		fibroblast growth factor receptor 3	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)						80.0	75.0	77.0					4																	1805440		2203	4300	6503	SO:0001583	missense	2261	1	121346	25	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	g.chr4:1805440G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.952G>A	chr4.hg19:g.1805440G>A	ENSP00000260795:p.Asp318Asn	0					FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron	p.D318N			1	2	3	1.998139	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	7	1054	+		Breast(71;0.212)|all_epithelial(65;0.241)	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	1	1	hg19	c.952G>A	CCDS3353.1	1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.433429	0.62844	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	D;D;D;T	0.96041	-3.89;-3.89;-3.89;-1.33	4.29	3.44	0.39384	4.29	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212673	0.48286	D	0.000196	D	0.92149	0.7511	L	0.33792	1.035	0.80722	D	1	P;P;B;P	0.47762	0.9;0.824;0.142;0.558	P;B;B;B	0.46026	0.501;0.336;0.081;0.076	D	0.89021	0.3435	10	0.25106	T	0.35	.	12.1103	0.53836	0.085:0.0:0.915:0.0	.	281;318;318;318	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	318;318;318;104	ENSP00000420533:D318N;ENSP00000414914:D318N;ENSP00000260795:D318N;ENSP00000427289:D104N	ENSP00000260795:D318N	D	+	1	0	0	FGFR3	1775238	1775238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	0.908000	0.36671	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-19.995380	1	0.170000	NM_000142			39	39		186	184	1		1	0		0	0	49	0		1	5.439487e-01	0	0	0	10	0	39	186
FGFR3	2261	broad.mit.edu	37	4	1805556	1805556	+	Silent	SNP	G	G	A	rs201947443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000260795.2	+	7	1170	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000440486.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	356					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCTGGTGGTGCTGCCAGGTA	0.617		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				g|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					ENST00000260795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		4	4p16.3	4p16.3	2261	Mis, T	fibroblast growth factor receptor 3	yes	yes	Hypochondroplasia, Thanatophoric dysplasia	"""L, E"""	L, E	IGH@, ETV6		bladder, MM, T-cell lymphoma		0				3091						c.(1066-1068)gtG>gtA		fibroblast growth factor receptor 3	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)						96.0	96.0	96.0					4																	1805556		2203	4300	6503	SO:0001819	synonymous_variant	2261	8	121376	40	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	g.chr4:1805556G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1068G>A	chr4.hg19:g.1805556G>A		0					FGFR3_ENST00000440486.2_Silent_p.V356V|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron	p.V356V			1	2	3	1.998139	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	7	1170	+		Breast(71;0.212)|all_epithelial(65;0.241)	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	1	1	hg19	c.1068G>A	CCDS3353.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-4.858570	1	0.170000	NM_000142			70	69		363	356	1		1	1		0	0	87	0		1	7.239940e-01	0	2	0	13	0	70	363
FGFR3	2261	broad.mit.edu	37	4	1807392	1807392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000260795.2	+	11	1743	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTGCACGCAGGGCGGTAGGT	0.647		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000260795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		4	4p16.3	4p16.3	2261	Mis, T	fibroblast growth factor receptor 3	yes	yes	Hypochondroplasia, Thanatophoric dysplasia	"""L, E"""	L, E	IGH@, ETV6		bladder, MM, T-cell lymphoma		0				3091						c.(1639-1641)caG>caA		fibroblast growth factor receptor 3	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)						55.0	51.0	53.0					4																	1807392		2203	4300	6503	SO:0001819	synonymous_variant	2261	0	0		Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	g.chr4:1807392G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1641G>A	chr4.hg19:g.1807392G>A		0					FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q	p.Q547Q			1	2	3	1.998139	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	11	1743	+		Breast(71;0.212)|all_epithelial(65;0.241)	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	1	1	hg19	c.1641G>A	CCDS3353.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.422876	1	0.170000	NM_000142			66	63		296	289	1		1	1		0	0	49	0		1	9.907680e-01	0	2	0	33	0	66	296
FGFR3	2261	broad.mit.edu	37	4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000260795.2	+	15	2201	c.2099T>C	c.(2098-2100)gTg>gCg	p.V700A	FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCATCCCTGTGGAGGAGCTC	0.647		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000260795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1		Dom	yes			Dom	yes		4	4p16.3	4p16.3	2261	Mis, T	fibroblast growth factor receptor 3	yes	yes	Hypochondroplasia, Thanatophoric dysplasia	"""L, E"""	L, E	IGH@, ETV6		bladder, MM, T-cell lymphoma		0				3091						c.(2098-2100)gTg>gCg		fibroblast growth factor receptor 3	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)						37.0	38.0	38.0					4																	1808341		2203	4300	6503	SO:0001583	missense	2261	0	0		Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	g.chr4:1808341T>C	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2099T>C	chr4.hg19:g.1808341T>C	ENSP00000260795:p.Val700Ala	0					FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A	p.V700A			1	2	3	1.998139	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	15	2201	+		Breast(71;0.212)|all_epithelial(65;0.241)	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	1	1	hg19	c.2099T>C	CCDS3353.1	1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.786755	0.70337	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.49	4.49	0.54785	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78078	0.4227	N	0.04245	-0.25	0.80722	D	1	B;D;B	0.69078	0.206;0.997;0.321	P;D;P	0.80764	0.543;0.994;0.621	D	0.83890	0.0284	9	0.87932	D	0	.	14.0827	0.64934	0.0:0.0:0.0:1.0	.	702;588;700	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	A	702;700;588;700;588	ENSP00000339824:V702A;ENSP00000414914:V700A;ENSP00000412903:V588A;ENSP00000260795:V700A;ENSP00000231803:V588A	ENSP00000260795:V700A	V	+	2	0	0	FGFR3	1778139	1778139	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.703000	0.84585	1.790000	0.52503	0.459000	0.35465	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_000142			50	50		174	173	1		1	0		0	0	47	0		1	9.979786e-01	0	1	0	34	0	50	174
LETM1	3954	broad.mit.edu	37	4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	rs139115587	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	474					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657													g|||	2	0.000399361	0.0	0.0	5008	,	,		17780	0.002		0.0	False		,,,				2504	0.0					ENST00000302787.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1420-1422)gCg>gTg		leucine zipper-EF-hand containing transmembrane protein 1		G	VAL/ALA	0,4406		0,0,2203	75.0	70.0	72.0		1421	3.9	1.0	4	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LETM1	NM_012318.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	474/740	1824770	1,13005	2203	4300	6503	SO:0001583	missense	3954	18	121410	46				g.chr4:1824770G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1421C>T	chr4.hg19:g.1824770G>A	ENSP00000305653:p.Ala474Val	0						p.A474V	NM_012318.2	NP_036450.1	1	2	3	1.998139	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)	9	1717	-			B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	1	1	hg19	c.1421C>T	CCDS3355.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.44	2.237076	0.39498	0.0	1.16E-4	ENSG00000168924	ENST00000302787	.	.	.	4.78	3.9	0.45041	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.65498	2.005	0.53688	D	0.999977	D	0.67145	0.996	B	0.43251	0.413	T	0.58092	-0.7697	9	0.37606	T	0.19	-21.2189	13.297	0.60303	0.0:0.0:0.5072:0.4928	.	474	O95202	LETM1_HUMAN	V	474	.	ENSP00000305653:A474V	A	-	2	0	0	LETM1	1794568	1794568	0.283000	0.24277	0.997000	0.53966	0.836000	0.47400	0.929000	0.28844	0.916000	0.36871	0.491000	0.48974	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				115	114		419	412	1		1	1		0	0	83	0		1	1	0	27	0	83	0	115	419
NCAPG	64151	broad.mit.edu	37	4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	993					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363																																						ENST00000251496.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2977-2979)cGa>cAa		non-SMC condensin I complex, subunit G							98.0	106.0	104.0					4																	17844978		2203	4299	6502	SO:0001583	missense	64151	2	121412	33				g.chr4:17844978G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2978G>A	chr4.hg19:g.17844978G>A	ENSP00000251496:p.Arg993Gln	0					LCORL_ENST00000326877.4_3'UTR	p.R993Q	NM_022346.4	NP_071741.2	1	2	3	1.998139	Q9BPX3	CND3_HUMAN		21	3154	+			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	1	1	hg19	c.2978G>A	CCDS3424.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.661373	0.96734	.	.	ENSG00000109805	ENST00000251496	T	0.38560	1.13	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66073	-0.6014	10	0.72032	D	0.01	-10.9118	20.8794	0.99867	0.0:0.0:1.0:0.0	.	993	Q9BPX3	CND3_HUMAN	Q	993	ENSP00000251496:R993Q	ENSP00000251496:R993Q	R	+	2	0	0	NCAPG	17454076	17454076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	1	0	1		2	2	2	0		0	0	110		110	106	1	2.060000	-3.255099	1	0.170000	NM_022346			100	98		411	397	1		1	1		0	0	110	0		1	9.999834e-01	0	13	0	54	0	100	411
LCORL	254251	broad.mit.edu	37	4	17910775	17910775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000382226.5	-	5	732	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000326877.4_Silent_p.E208E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348																																						ENST00000382226.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(622-624)gaG>gaA		ligand dependent nuclear receptor corepressor-like							187.0	181.0	183.0					4																	17910775		2203	4300	6503	SO:0001819	synonymous_variant	254251	0	0					g.chr4:17910775C>T		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.624G>A	chr4.hg19:g.17910775C>T		0					LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000326877.4_Silent_p.E208E	p.E208E	NM_001166139.1	NP_001159611.1	1	2	3	1.998139	Q8N3X6	LCORL_HUMAN		5	732	-			Q96NK1	Silent	SNP	ENST00000382226.5	1	1	hg19	c.624G>A	CCDS54749.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_153686			96	95		441	433	1		1	1		0	0	79	0		1	9.994779e-01	0	16	0	37	0	96	441
LCORL	254251	broad.mit.edu	37	4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000382226.5	-	4	449	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000326877.4_Missense_Mutation_p.T114I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	114					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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348																																						ENST00000382226.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				4						c.(340-342)aCa>aTa		ligand dependent nuclear receptor corepressor-like							114.0	106.0	109.0					4																	17963615		2202	4300	6502	SO:0001583	missense	254251	0	0					g.chr4:17963615G>A		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.341C>T	chr4.hg19:g.17963615G>A	ENSP00000371661:p.Thr114Ile	0					LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000326877.4_Missense_Mutation_p.T114I	p.T114I	NM_001166139.1	NP_001159611.1	1	2	3	1.998139	Q8N3X6	LCORL_HUMAN		4	449	-			Q96NK1	Missense_Mutation	SNP	ENST00000382226.5	1	1	hg19	c.341C>T	CCDS54749.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528768	0.85706	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.160650	0.56097	D	0.000028	T	0.74642	0.3743	L	0.40543	1.245	0.51767	D	0.999936	D;D	0.76494	0.997;0.999	D;D	0.85130	0.991;0.997	T	0.74377	-0.3685	9	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	27;114	B4DSW0;Q8N3X6-3	.;.	I	114;27;30;114	.	ENSP00000317566:T114I	T	-	2	0	0	LCORL	17572713	17572713	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.159000	0.77483	2.793000	0.96121	0.655000	0.94253	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_153686			40	40		209	205	1		1	1		0	0	48	0		1	9.989040e-01	0	18	0	39	0	40	209
AGA	175	broad.mit.edu	37	4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A	rs386833423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	116					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)			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)		AGTACTTTCCGTGCCACACCA	0.363																																						ENST00000264595.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(346-348)Cgg>Tgg		aspartylglucosaminidase							222.0	212.0	216.0					4																	178360778		2203	4300	6503	SO:0001583	missense	175	0	0					g.chr4:178360778G>A	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.346C>T	chr4.hg19:g.178360778G>A	ENSP00000264595:p.Arg116Trp	0					AGA_ENST00000506853.1_5'UTR	p.R116W	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	1	2	3	1.998139	P20933	ASPG_HUMAN		3	473	-		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)	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	1	1	hg19	c.346C>T	CCDS3829.1	1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923781	0.73213	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.90133	-2.62;-2.45	5.93	5.01	0.66863	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.96986	0.9718	10	0.59425	D	0.04	-20.7211	15.6822	0.77381	0.0:0.0:0.7797:0.2203	.	116	P20933	ASPG_HUMAN	W	116;1	ENSP00000264595:R116W;ENSP00000423798:R1W	ENSP00000264595:R116W	R	-	1	2	2	AGA	178597772	178597772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.805000	0.96524	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	1	0	1		2	2	2	0		0	0	222		222	220	1	2.060000	-20.000000	1	0.170000	NM_000027			165	162		883	863	1		1	1		0	0	222	0		1	9.999997e-01	0	20	0	91	0	165	883
WWC2	80014	broad.mit.edu	37	4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F|WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	666					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)			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)		TCTGATGAGTCTGTGGCTGGA	0.502																																						ENST00000403733.3	0.970000	0.420000	8.800000e-01	5.600000e-01	0.720000	0.724841	0.720000	0.730000																										0				32						c.(1996-1998)tCt>tTt		WW and C2 domain containing 2							98.0	94.0	96.0					4																	184186218		2203	4300	6503	SO:0001583	missense	80014	0	0					g.chr4:184186218C>T	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.1997C>T	chr4.hg19:g.184186218C>T	ENSP00000384222:p.Ser666Phe	1					WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F	p.S666F	NM_024949.5	NP_079225.5	0	1	1	1.777321	Q6AWC2	WWC2_HUMAN		12	2196	+		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)	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	1	1	hg19	c.1997C>T	CCDS34109.2	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665799	0.88251	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.66137	0.2759	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-15.9818	18.5932	0.91222	0.0:1.0:0.0:0.0	.	666;617	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	F	666;568;617;666;348	ENSP00000384222:S666F;ENSP00000368205:S568F;ENSP00000425054:S617F;ENSP00000398577:S666F;ENSP00000427569:S348F	ENSP00000368205:S568F	S	+	2	0	0	WWC2	184423212	184423212	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	7.011000	0.76359	2.610000	0.88304	0.563000	0.77884	TCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-18.292590	1	0.170000	NM_024949			14	13		184	178	0		1	1		0	0	37	0		9.997266e-01	9.033294e-01	0	7	0	49	0	14	184
WWC2	80014	broad.mit.edu	37	4	184192281	184192281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	ENST00000403733.3	+	16	2648	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L|WWC2_ENST00000448232.2_Missense_Mutation_p.F817L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	817					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)			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)		CAGTGAGGTTTTCACTCTATG	0.363																																						ENST00000403733.3	1.000000	0.820000	9.900000e-01	9.000000e-01	0.960000	0.952110	0.960000	0.990000																										0				32						c.(2449-2451)Ttc>Ctc		WW and C2 domain containing 2							47.0	46.0	47.0					4																	184192281		2203	4300	6503	SO:0001583	missense	80014	0	0					g.chr4:184192281T>C	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.2449T>C	chr4.hg19:g.184192281T>C	ENSP00000384222:p.Phe817Leu	1					WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L	p.F817L	NM_024949.5	NP_079225.5	0	1	1	1.777321	Q6AWC2	WWC2_HUMAN		16	2648	+		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)	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	0	1	hg19	c.2449T>C	CCDS34109.2	1	.	.	.	.	.	.	.	.	.	.	T	9.951	1.220036	0.22373	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.52	4.35	0.52113	5.52	4.35	0.52113	C2 calcium/lipid-binding domain, CaLB (1);	0.313337	0.32204	N	0.006421	T	0.29976	0.0750	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28933	0.228;0.011;0.002	B;B;B	0.30855	0.121;0.017;0.003	T	0.04509	-1.0946	10	0.10377	T	0.69	-14.1055	8.5657	0.33538	0.0:0.146:0.0:0.854	.	817;817;768	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	817;768;817;499	ENSP00000384222:F817L;ENSP00000425054:F768L;ENSP00000398577:F817L;ENSP00000427569:F499L	ENSP00000384222:F817L	F	+	1	0	0	WWC2	184429275	184429275	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	3.275000	0.51639	1.121000	0.41925	0.460000	0.39030	TTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.363	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_024949			29	29		123	119	0		1	1		0	0	31	0		1	9.994143e-01	0	12	0	41	0	29	123
CDKN2AIP	55602	broad.mit.edu	37	4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	208	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507																																						ENST00000504169.1	0.850000	0.370000	7.300000e-01	4.700000e-01	0.590000	0.604518	0.590000	0.580000																										0				6						c.(622-624)Cga>Tga		CDKN2A interacting protein							96.0	92.0	93.0					4																	184367459		2203	4300	6503	SO:0001587	stop_gained	55602	0	0					g.chr4:184367459C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.622C>T	chr4.hg19:g.184367459C>T	ENSP00000427108:p.Arg208*	1					CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.R208*	NM_017632.2	NP_060102.1	0	1	1	1.777321	Q9NXV6	CARF_HUMAN		3	829	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Q8TBM5|Q9NYH0	Nonsense_Mutation	SNP	ENST00000504169.1	0	1	hg19	c.622C>T	CCDS34110.1	0	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586677	0.28268	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	-6.48	0.01896	5.44	-6.48	0.01896	.	0.793526	0.10870	N	0.625049	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	2.12	3.8523	0.08960	0.5624:0.1348:0.1711:0.1318	.	.	.	.	X	208	.	ENSP00000427108:R208X	R	+	1	2	2	CDKN2AIP	184604453	184604453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-0.857000	0.04115	-1.014000	0.02459	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-19.929020	1	0.170000	NM_017632			19	19		324	315	0		1	1		0	0	79	0		9.999889e-01	9.648006e-01	0	7	0	90	0	19	324
CDKN2AIP	55602	broad.mit.edu	37	4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	521	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378																																						ENST00000504169.1	1.000000	0.860000	1	9.200000e-01	0.960000	0.963916	0.960000	0.990000																										0				6						c.(1561-1563)gaA>gaT		CDKN2A interacting protein							96.0	100.0	99.0					4																	184368400		2203	4300	6503	SO:0001583	missense	55602	0	0					g.chr4:184368400A>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1563A>T	chr4.hg19:g.184368400A>T	ENSP00000427108:p.Glu521Asp	1					CDKN2AIP_ENST00000302350.4_3'UTR	p.E521D	NM_017632.2	NP_060102.1	0	1	1	1.777321	Q9NXV6	CARF_HUMAN		3	1770	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	1	1	hg19	c.1563A>T	CCDS34110.1	1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253071	0.22965	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.36	1.63	0.23807	5.36	1.63	0.23807	Double-stranded RNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.35276	-0.9795	9	0.38643	T	0.18	-18.9966	8.8164	0.34998	0.6934:0.0:0.3066:0.0	.	521	Q9NXV6	CARF_HUMAN	D	521	.	ENSP00000427108:E521D	E	+	3	2	2	CDKN2AIP	184605394	184605394	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.661000	0.25023	0.482000	0.27582	0.459000	0.35465	GAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-19.999990	1	0.170000	NM_017632			57	56		354	343	1		1	1		0	0	98	0		1	9.999908e-01	0	24	0	82	0	57	354
ING2	3622	broad.mit.edu	37	4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	154					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)			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)		AGACCCCGCAGGCAGCGGACC	0.463																																						ENST00000302327.3	1.000000	0.880000	1	9.300000e-01	0.970000	0.971187	0.970000	0.990000																										0				7						c.(460-462)aGg>aTg		inhibitor of growth family, member 2							56.0	59.0	58.0					4																	184431723		2203	4300	6503	SO:0001583	missense	3622	0	0					g.chr4:184431723G>T	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.461G>T	chr4.hg19:g.184431723G>T	ENSP00000307183:p.Arg154Met	1					ING2_ENST00000434682.2_Missense_Mutation_p.R114M	p.R154M	NM_001564.2	NP_001555.1	0	1	1	1.777321	Q9H160	ING2_HUMAN		2	663	+		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)	B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	1	1	hg19	c.461G>T	CCDS3833.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937902	0.73557	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.211158	0.45867	D	0.000337	T	0.78941	0.4363	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;P	0.77557	0.99;0.819	T	0.78871	-0.2033	9	0.62326	D	0.03	-2.902	19.6941	0.96016	0.0:0.0:1.0:0.0	.	114;154	B6ZDS1;Q9H160	.;ING2_HUMAN	M	154;114;114	.	ENSP00000307183:R154M	R	+	2	0	0	ING2	184668717	184668717	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_001564			49	49		210	207	1		1	1		0	0	65	0		1	9.999997e-01	0	36	0	65	0	49	210
STOX2	56977	broad.mit.edu	37	4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	91					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547																																						ENST00000308497.4	1.000000	0.630000	9.700000e-01	7.700000e-01	0.890000	0.876273	0.890000	0.990000																										0				14						c.(271-273)Cct>Tct		storkhead box 2							82.0	79.0	80.0					4																	184922582		2062	4220	6282	SO:0001583	missense	56977	0	0					g.chr4:184922582C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.271C>T	chr4.hg19:g.184922582C>T	ENSP00000311257:p.Pro91Ser	1					STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	p.P91S	NM_020225.1	NP_064610.1	0	1	1	1.777321	Q9P2F5	STOX2_HUMAN		2	1706	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	1	1	hg19	c.271C>T	CCDS47167.1	1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355539	0.61293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.75050	-0.9;-0.9;-0.9	5.93	5.93	0.95920	5.93	5.93	0.95920	Storkhead-box protein, winged-helix domain (1);	0.055947	0.64402	D	0.000001	T	0.58623	0.2135	N	0.05124	-0.11	0.80722	D	1	B	0.31705	0.336	B	0.34093	0.175	T	0.56498	-0.7969	9	.	.	.	-16.65	20.3539	0.98825	0.0:1.0:0.0:0.0	.	91	Q9P2F5	STOX2_HUMAN	S	91;91;29	ENSP00000311257:P91S;ENSP00000390127:P91S;ENSP00000425388:P29S	.	P	+	1	0	0	STOX2	185159576	185159576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.554000	0.45845	2.826000	0.97356	0.655000	0.94253	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_020225			18	18		144	143	1		1	0		0	0	41	0		9.999864e-01	1.082808e-01	0	0	0	5	0	18	144
STOX2	56977	broad.mit.edu	37	4	184930594	184930594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	201					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602																																						ENST00000308497.4	0.990000	0.570000	9.300000e-01	6.900000e-01	0.810000	0.815478	0.810000	0.840000																										0				14						c.(601-603)tgC>tgT		storkhead box 2							82.0	86.0	85.0					4																	184930594		2139	4241	6380	SO:0001819	synonymous_variant	56977	0	0					g.chr4:184930594C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.603C>T	chr4.hg19:g.184930594C>T		1					STOX2_ENST00000438269.1_Silent_p.C201C	p.C201C	NM_020225.1	NP_064610.1	0	1	1	1.777321	Q9P2F5	STOX2_HUMAN		3	2038	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	1	1	hg19	c.603C>T	CCDS47167.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.602	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-9.424652	1	0.170000	NM_020225			29	29		332	328	0		1	0		0	0	97	0		1	6.999849e-03	0	0	0	2	0	29	332
STOX2	56977	broad.mit.edu	37	4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572																																						ENST00000308497.4	1.000000	0.610000	9.800000e-01	7.700000e-01	0.900000	0.882545	0.900000	0.990000																										0				14						c.(1477-1479)tCg>tTg		storkhead box 2							37.0	44.0	42.0					4																	184931469		1925	4150	6075	SO:0001583	missense	56977	0	0					g.chr4:184931469C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1478C>T	chr4.hg19:g.184931469C>T	ENSP00000311257:p.Ser493Leu	1					STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	p.S493L	NM_020225.1	NP_064610.1	0	1	1	1.777321	Q9P2F5	STOX2_HUMAN		3	2913	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	0	1	hg19	c.1478C>T	CCDS47167.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078638	0.76528	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.84730	-0.91;-1.89	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.89592	0.3828	10	0.72032	D	0.01	-15.3942	19.9142	0.97043	0.0:1.0:0.0:0.0	.	493;493	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	L	493	ENSP00000311257:S493L;ENSP00000390127:S493L	ENSP00000311257:S493L	S	+	2	0	0	STOX2	185168463	185168463	1.000000	0.71417	0.168000	0.22838	0.844000	0.47949	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.572	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-18.806890	1	0.170000	NM_020225			9	9		31	30	1		1	0		0	0	11	0		9.955255e-01	0	0	0	0	1	0	9	31
STOX2	56977	broad.mit.edu	37	4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	500					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCAAAGGCCCTCTGGGTGC	0.552																																						ENST00000308497.4	0.990000	0.390000	9.400000e-01	5.800000e-01	0.790000	0.768589	0.790000	0.990000																										0				14						c.(1498-1500)Cct>Tct		storkhead box 2							36.0	43.0	41.0					4																	184931489		1922	4150	6072	SO:0001583	missense	56977	0	0					g.chr4:184931489C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1498C>T	chr4.hg19:g.184931489C>T	ENSP00000311257:p.Pro500Ser	1					STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	p.P500S	NM_020225.1	NP_064610.1	0	1	1	1.777321	Q9P2F5	STOX2_HUMAN		3	2933	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	0	1	hg19	c.1498C>T	CCDS47167.1	0	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893427	0.72639	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.80764	0.225;0.994	T	0.80398	-0.1399	10	0.27082	T	0.32	-18.7983	19.9142	0.97043	0.0:1.0:0.0:0.0	.	500;500	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	S	500	ENSP00000311257:P500S;ENSP00000390127:P500S	ENSP00000311257:P500S	P	+	1	0	0	STOX2	185168483	185168483	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.519000	0.53458	2.941000	0.99782	0.655000	0.94253	CCT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.552	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-11.983200	1	0.170000	NM_020225			6	6		51	51	1		1	0		0	0	11	0		9.677842e-01	0	0	0	0	1	0	6	51
ENPP6	133121	broad.mit.edu	37	4	185038975	185038975	+	Silent	SNP	C	C	T	rs74865283	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185038975C>T	ENST00000296741.2	-	4	753	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	204					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)			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)		CTTTCCTCTGCGGAGATGCAG	0.587													C|||	20	0.00399361	0.0136	0.0029	5008	,	,		22463	0.0		0.0	False		,,,				2504	0.0					ENST00000296741.2	1.000000	0.920000	1	9.600000e-01	0.980000	0.983518	0.980000	0.990000																										0				15						c.(610-612)ccG>ccA		ectonucleotide pyrophosphatase/phosphodiesterase 6		C		54,4352	53.6+/-89.4	0,54,2149	174.0	140.0	151.0		612	-12.1	0.0	4	dbSNP_132	151	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	ENPP6	NM_153343.3		0,56,6447	TT,TC,CC		0.0233,1.2256,0.4306		204/441	185038975	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	133121	193	121412	57				g.chr4:185038975C>T	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.612G>A	chr4.hg19:g.185038975C>T		1						p.P204P	NM_153343.3	NP_699174.1	0	1	1	1.777321	Q6UWR7	ENPP6_HUMAN		4	753	-		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)	Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	1	0	hg19	c.612G>A	CCDS3834.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-2.643893	1	0.170000	NM_153343			79	77		320	309	1		1			0	0	91	0		1	0	0	0	0	0	0	79	320
ENPP6	133121	broad.mit.edu	37	4	185074810	185074810	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	106					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)			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)		CTTTGTTGACGCCAATGTCAA	0.502																																						ENST00000296741.2	0.840000	0.300000	6.900000e-01	4.100000e-01	0.540000	0.557727	0.540000	0.530000																										0				15						c.(316-318)ggC>ggA		ectonucleotide pyrophosphatase/phosphodiesterase 6							154.0	131.0	139.0					4																	185074810		2203	4300	6503	SO:0001819	synonymous_variant	133121	0	0					g.chr4:185074810G>T	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.318C>A	chr4.hg19:g.185074810G>T		1						p.G106G	NM_153343.3	NP_699174.1	0	1	1	1.777321	Q6UWR7	ENPP6_HUMAN		2	459	-		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)	Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	1	1	hg19	c.318C>A	CCDS3834.1	0																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.502	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.211109	1	0.170000	NM_153343			13	13		244	238	0		1	0		0	0	48	0		9.994995e-01	0	0	0	0	1	0	13	244
ACSL1	2180	broad.mit.edu	37	4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000515030.1	-	21	2377	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	684					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458																																						ENST00000515030.1	0.610000	0.290000	5.300000e-01	3.600000e-01	0.430000	0.450589	0.430000	0.440000																										0				38						c.(2050-2052)taT>taG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144.0	144.0	144.0					4																	185678324		2203	4300	6503	SO:0001587	stop_gained	2180	0	0					g.chr4:185678324A>C	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.2052T>G	chr4.hg19:g.185678324A>C	ENSP00000422607:p.Tyr684*	1					ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*	p.Y684*			0	1	1	1.777321	P33121	ACSL1_HUMAN		21	2377	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	0	1	hg19	c.2052T>G	CCDS3839.1	0	.	.	.	.	.	.	.	.	.	.	A	37	6.532420	0.97641	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	6.06	-0.957	0.10350	6.06	-0.957	0.10350	.	0.448180	0.28600	N	0.014769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0165	7.8838	0.29637	0.4554:0.1186:0.426:0.0	.	.	.	.	X	513;684;280;684;650;513;684;684	.	ENSP00000281455:Y684X	Y	-	3	2	2	ACSL1	185915318	185915318	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	0.666000	0.25097	0.171000	0.19730	0.533000	0.62120	TAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.458	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	0	0	1		2	2	2	0		0	0	121		121	122	1	2.060000	-4.377871	1	0.170000	NM_001995			27	28		630	622	0		1	1		0	0	121	0		9.999999e-01	9.999946e-01	0	6	0	438	0	27	630
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	247					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473																																						ENST00000281456.6	1.000000	0.620000	9.700000e-01	7.500000e-01	0.870000	0.864828	0.870000	0.990000																										0				10						c.(739-741)gcC>gcT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						88.0	80.0	83.0					4																	186067969		2203	4300	6503	SO:0001630	splice_region_variant	291	3	121412	34				g.chr4:186067969C>T	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.740-1C>T	chr4.hg19:g.186067969C>T		1						p.A247A	NM_001151.3	NP_001142.2	0	1	1	1.777321	P12235	ADT1_HUMAN		4	873	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	D3DP59	Splice_Site	SNP	ENST00000281456.6	1	0	hg19	c.741C>T	CCDS34114.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-2.879482	1	0.170000	NM_001151	Silent		21	21		191	189	0		1	1		0	0	50	0		9.999980e-01	9.999984e-01	0	38	0	175	0	21	191
CFAP97	57587	broad.mit.edu	37	4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A	rs192418727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18464	0.0		0.0	False		,,,				2504	0.0					ENST00000458385.2	1.000000	0.580000	9.700000e-01	7.400000e-01	0.880000	0.860926	0.880000	0.990000																										0				11						c.(1528-1530)gCg>gTg									49.0	54.0	52.0					4																	186084022		1931	4138	6069	SO:0001583	missense	0	8	120858	39				g.chr4:186084022G>A																												ENST00000458385.2:c.1529C>T	chr4.hg19:g.186084022G>A	ENSP00000409964:p.Ala510Val	1						p.A510V	NM_020827.1	NP_065878.1	0	1	1	1.777321	Q9P2B7	K1430_HUMAN		5	1648	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	1	1	hg19	c.1529C>T	CCDS47168.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.214	0.224956	0.09916	.	.	ENSG00000164323	ENST00000458385	T	0.28666	1.6	4.7	-5.24	0.02789	4.7	-5.24	0.02789	.	.	.	.	.	T	0.10208	0.0250	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	9	0.15066	T	0.55	0.3863	5.5487	0.17079	0.398:0.2639:0.3381:0.0	.	510	Q9P2B7	K1430_HUMAN	V	510	ENSP00000409964:A510V	ENSP00000409964:A510V	A	-	2	0	0	KIAA1430	186321016	186321016	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.268000	0.08607	-1.005000	0.03417	-0.355000	0.07637	GCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.344140	1	0.170000				12	12		84	82	1		1	1		0	0	25	0		9.992302e-01	9.997679e-01	0	12	0	101	0	12	84
CFAP97	57587	broad.mit.edu	37	4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		486										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTATATTGGCCAAGAGTG	0.343																																						ENST00000458385.2	1.000000	0.740000	9.900000e-01	8.400000e-01	0.930000	0.919974	0.930000	0.990000																										0				11						c.(1456-1458)Caa>Aaa									154.0	144.0	147.0					4																	186085198		1860	4094	5954	SO:0001583	missense	0	0	0					g.chr4:186085198G>T																												ENST00000458385.2:c.1456C>A	chr4.hg19:g.186085198G>T	ENSP00000409964:p.Gln486Lys	1						p.Q486K	NM_020827.1	NP_065878.1	0	1	1	1.777321	Q9P2B7	K1430_HUMAN		4	1575	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	1	1	hg19	c.1456C>A	CCDS47168.1	1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001628	0.35320	.	.	ENSG00000164323	ENST00000458385	T	0.30981	1.51	5.33	5.33	0.75918	5.33	5.33	0.75918	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.02661	-1.1127	9	0.07990	T	0.79	-1.5405	17.1773	0.86844	0.0:0.0:1.0:0.0	.	486	Q9P2B7	K1430_HUMAN	K	486	ENSP00000409964:Q486K	ENSP00000409964:Q486K	Q	-	1	0	0	KIAA1430	186322192	186322192	1.000000	0.71417	0.895000	0.35142	0.300000	0.27592	5.747000	0.68689	2.637000	0.89404	0.655000	0.94253	CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.142704	1	0.170000				37	37		302	298	1		1	1		0	0	58	0		1	9.999978e-01	0	19	0	145	0	37	302
CFAP97	57587	broad.mit.edu	37	4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353																																						ENST00000458385.2	1.000000	0.850000	1	9.200000e-01	0.960000	0.963104	0.960000	0.990000																										0				11						c.(958-960)tCc>tTc									83.0	74.0	76.0					4																	186111392		1848	4099	5947	SO:0001583	missense	0	0	0					g.chr4:186111392G>A																												ENST00000458385.2:c.959C>T	chr4.hg19:g.186111392G>A	ENSP00000409964:p.Ser320Phe	1					KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	p.S320F	NM_020827.1	NP_065878.1	0	1	1	1.777321	Q9P2B7	K1430_HUMAN		2	1078	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	1	1	hg19	c.959C>T	CCDS47168.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840766	0.00573	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.42513	1.56;0.97;0.97	4.96	0.873	0.19118	4.96	0.873	0.19118	.	0.644381	0.14490	N	0.316429	T	0.21761	0.0524	N	0.22421	0.69	0.09310	N	1	P;B	0.39157	0.662;0.159	B;B	0.33196	0.159;0.024	T	0.12091	-1.0561	10	0.59425	D	0.04	2.7903	3.7265	0.08477	0.1869:0.0:0.477:0.3361	.	320;320	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	F	320	ENSP00000409964:S320F;ENSP00000423312:S320F;ENSP00000296775:S320F	ENSP00000296775:S320F	S	-	2	0	0	KIAA1430	186348386	186348386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.320000	0.23234	0.609000	0.83330	TCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.353	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				31	31		88	85	1		1	1		0	0	34	0		1	1	0	47	0	111	0	31	88
CFAP97	57587	broad.mit.edu	37	4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398																																						ENST00000458385.2	1.000000	0.830000	1	9.100000e-01	0.960000	0.958206	0.960000	0.990000																										0				11						c.(784-786)Gac>Tac									107.0	92.0	96.0					4																	186111567		1884	4107	5991	SO:0001583	missense	0	0	0					g.chr4:186111567C>A																												ENST00000458385.2:c.784G>T	chr4.hg19:g.186111567C>A	ENSP00000409964:p.Asp262Tyr	1					KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	p.D262Y	NM_020827.1	NP_065878.1	0	1	1	1.777321	Q9P2B7	K1430_HUMAN		2	903	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	1	1	hg19	c.784G>T	CCDS47168.1	1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777121	0.70107	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.60920	0.7;0.15;0.15	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.065347	0.64402	D	0.000013	T	0.77039	0.4072	M	0.72894	2.215	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78285	-0.2263	10	0.87932	D	0	-15.6196	19.8686	0.96842	0.0:1.0:0.0:0.0	.	262;262	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Y	262	ENSP00000409964:D262Y;ENSP00000423312:D262Y;ENSP00000296775:D262Y	ENSP00000296775:D262Y	D	-	1	0	0	KIAA1430	186348561	186348561	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.228000	0.72288	2.768000	0.95171	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				29	29		95	94	1		1	1		0	0	34	0		1	1	0	27	0	85	0	29	95
SNX25	83891	broad.mit.edu	37	4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.V710I			Q9H3E2	SNX25_HUMAN	sorting nexin 25	710					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)			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)		AATTGCCCTCGTTCAGGTCAC	0.373																																						ENST00000504273.1	1.000000	0.780000	9.900000e-01	8.700000e-01	0.940000	0.935086	0.940000	0.990000																										0				40						c.(2128-2130)Gtt>Att		sorting nexin 25							165.0	157.0	160.0					4																	186278860		2203	4300	6503	SO:0001583	missense	83891	0	0					g.chr4:186278860G>A	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.2128G>A	chr4.hg19:g.186278860G>A	ENSP00000426255:p.Val710Ile	1					SNX25_ENST00000264694.8_Missense_Mutation_p.V710I|SNX25_ENST00000512853.1_3'UTR	p.V710I			0	1	1	1.777321	Q9H3E2	SNX25_HUMAN		16	2422	+		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)	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	1	1	hg19	c.2128G>A	CCDS34116.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.546948	0.96488	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33438	1.41;1.41	5.9	5.9	0.94986	5.9	5.9	0.94986	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.83275	0.943;0.909;0.996	T	0.45542	-0.9254	10	0.35671	T	0.21	-22.4775	20.2822	0.98520	0.0:0.0:1.0:0.0	.	426;243;710	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	I	710;710;243	ENSP00000426255:V710I;ENSP00000264694:V710I	ENSP00000264693:V243I	V	+	1	0	0	SNX25	186515854	186515854	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.373	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-16.528900	1	0.170000	NM_031953			44	43		343	331	1		1	1		0	0	82	0		1	9.868357e-01	0	5	0	50	0	44	343
UFSP2	55325	broad.mit.edu	37	4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			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)		CTGCAGAGATCGATAAGCACA	0.428																																						ENST00000264689.6	1.000000	0.670000	9.700000e-01	7.800000e-01	0.880000	0.876511	0.880000	0.950000																										0				12						c.(913-915)cGa>cAa		UFM1-specific peptidase 2							132.0	117.0	122.0					4																	186329507		2203	4300	6503	SO:0001583	missense	55325	1	121412	35				g.chr4:186329507C>T	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.914G>A	chr4.hg19:g.186329507C>T	ENSP00000264689:p.Arg305Gln	1						p.R305Q	NM_018359.3	NP_060829.2	0	1	1	1.777321	Q9NUQ7	UFSP2_HUMAN		8	1030	-		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)	Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	1	1	hg19	c.914G>A	CCDS3842.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	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	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	0|0	UFSP2|UFSP2	186566501|186566501	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.428	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	0		2	2	2	0		0	0	85		85	83	1	2.060000	-3.221883	1	0.170000	NM_018359			38	37		382	375	1		1	1		0	0	85	0		1	9.994541e-01	0	16	0	99	0	38	382
UFSP2	55325	broad.mit.edu	37	4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A	rs201688336		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	292						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			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)		CTATGCGATCCTGCATATAAT	0.398																																						ENST00000264689.6	1.000000	0.910000	1	9.500000e-01	0.980000	0.981070	0.980000	0.990000																										0				12						c.(874-876)caG>caT		UFM1-specific peptidase 2							112.0	101.0	105.0					4																	186329545		2203	4300	6503	SO:0001583	missense	55325	0	0					g.chr4:186329545C>A	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.876G>T	chr4.hg19:g.186329545C>A	ENSP00000264689:p.Gln292His	1						p.Q292H	NM_018359.3	NP_060829.2	0	1	1	1.777321	Q9NUQ7	UFSP2_HUMAN		8	992	-		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)	Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	1	1	hg19	c.876G>T	CCDS3842.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.55|11.55|11.55	1.672574|1.672574|1.672574	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000109775|ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689|ENST00000509180	.|T|.	.|0.31769|.	.|1.48|.	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	.|.|.	.|0.132090|.	.|0.64402|.	.|D|.	.|0.000018|.	.|T|T	.|0.74238|0.74238	.|0.3690|0.3690	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.71935|0.71935	.|-0.4442|-0.4442	.|10|5	.|0.25751|.	.|T|.	.|0.34|.	.|-3.6114|-3.6114	9.224|9.224|9.224	0.37395|0.37395|0.37395	0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608	.|.|.	.|292|.	.|Q9NUQ7|.	.|UFSP2_HUMAN|.	.|H|M	-1|292|21	.|ENSP00000264689:Q292H|.	.|ENSP00000264689:Q292H|.	.|Q|R	-|-|-	.|3|2	.|2|0	.|2|0	UFSP2|UFSP2|UFSP2	186566539|186566539|186566539	186566539|186566539|186566539	0.952000|0.952000|0.952000	0.32445|0.32445|0.32445	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.444000|0.444000|0.444000	0.32077|0.32077|0.32077	0.132000|0.132000|0.132000	0.15891|0.15891|0.15891	-0.039000|-0.039000|-0.039000	0.13602|0.13602|0.13602	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-3.295116	1	0.170000	NM_018359			73	73		315	311	1		1	1		0	0	85	0		1	9.999999e-01	0	20	0	87	0	73	315
UFSP2	55325	broad.mit.edu	37	4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	UFSP2_ENST00000502282.1_5'UTR|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	69						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			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)		GGAATGGTGTTTATGTCACTG	0.398																																						ENST00000264689.6	1.000000	0.710000	9.800000e-01	8.100000e-01	0.910000	0.902147	0.910000	0.990000																										0				12						c.(205-207)Aac>Cac		UFM1-specific peptidase 2							124.0	119.0	121.0					4																	186339802		2203	4300	6503	SO:0001583	missense	55325	0	0					g.chr4:186339802T>G	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.205A>C	chr4.hg19:g.186339802T>G	ENSP00000264689:p.Asn69His	1					UFSP2_ENST00000502282.1_5'UTR|Y_RNA_ENST00000384502.1_RNA	p.N69H	NM_018359.3	NP_060829.2	0	1	1	1.777321	Q9NUQ7	UFSP2_HUMAN		3	321	-		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)	Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	1	1	hg19	c.205A>C	CCDS3842.1	1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189439	0.09547	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46451	1.51;0.87	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.300775	0.37136	N	0.002226	T	0.34106	0.0886	L	0.43152	1.355	0.23249	N	0.998048	B	0.29805	0.257	B	0.29176	0.099	T	0.26985	-1.0087	10	0.33940	T	0.23	-14.7842	9.8989	0.41335	0.2584:0.0:0.0:0.7416	.	69	Q9NUQ7	UFSP2_HUMAN	H	69;63	ENSP00000264689:N69H;ENSP00000423108:N63H	ENSP00000264689:N69H	N	-	1	0	0	UFSP2	186576796	186576796	0.989000	0.36119	0.865000	0.33974	0.052000	0.14988	2.247000	0.43151	2.242000	0.73789	0.482000	0.46254	AAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_018359			43	43		403	399	1		1	1		0	0	108	0		1	9.992744e-01	0	17	0	86	0	43	403
CCDC110	256309	broad.mit.edu	37	4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000307588.3	-	6	2282	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N|CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	736						nucleus (GO:0005634)				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)		AAGTCTACTGATGCTGTTTTC	0.299																																						ENST00000307588.3	0.960000	0.280000	8.400000e-01	4.300000e-01	0.630000	0.640576	0.630000	0.630000																										0				30						c.(2206-2208)aTc>aAc		coiled-coil domain containing 110							49.0	49.0	49.0					4																	186379534		2203	4296	6499	SO:0001583	missense	256309	0	0					g.chr4:186379534A>T	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.2207T>A	chr4.hg19:g.186379534A>T	ENSP00000306776:p.Ile736Asn	1					CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N|CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N	p.I736N	NM_152775.3	NP_689988.1	0	1	1	1.777321	Q8TBZ0	CC110_HUMAN		6	2282	-		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)	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	0	1	hg19	c.2207T>A	CCDS3843.1	0	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758661	0.49468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.108971	0.40640	N	0.001057	T	0.52645	0.1747	M	0.67953	2.075	0.30694	N	0.750976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56263	-0.8008	10	0.36615	T	0.2	-5.7167	14.1879	0.65617	1.0:0.0:0.0:0.0	.	736;699;736	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	699;736;736	ENSP00000377172:I699N;ENSP00000306776:I736N;ENSP00000427246:I736N	ENSP00000306776:I736N	I	-	2	0	0	CCDC110	186616528	186616528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.220000	0.72140	0.528000	0.53228	ATC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.299	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-10.142580	1	0.170000	NM_152775			6	6		89	88	0		1	0		0	0	17	0		9.654614e-01	3.122239e-02	0	0	0	4	0	6	89
PDLIM3	27295	broad.mit.edu	37	4	186423604	186423604	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284771.6_Silent_p.R265R|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	313	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507																																						ENST00000284770.5	1.000000	0.920000	1	9.500000e-01	0.980000	0.982645	0.980000	0.990000																										0				17						c.(937-939)cgG>cgA		PDZ and LIM domain 3							110.0	99.0	103.0					4																	186423604		2203	4300	6503	SO:0001819	synonymous_variant	27295	0	0					g.chr4:186423604C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.939G>A	chr4.hg19:g.186423604C>T		1					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R265R	p.R313R	NM_014476.5	NP_055291.2	0	1	1	1.777321	Q53GG5	PDLI3_HUMAN		8	1012	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	1	1	hg19	c.939G>A	CCDS3844.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	0		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_014476			85	84		402	397	1		1	0		0	0	88	0		1	1	0	0	0	344	0	85	402
PDLIM3	27295	broad.mit.edu	37	4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	283					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532																																						ENST00000284770.5	1.000000	0.800000	9.900000e-01	8.900000e-01	0.950000	0.945327	0.950000	0.990000																										0				17						c.(847-849)gGc>gAc		PDZ and LIM domain 3							66.0	58.0	61.0					4																	186425686		2203	4300	6503	SO:0001583	missense	27295	0	0					g.chr4:186425686C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.848G>A	chr4.hg19:g.186425686C>T	ENSP00000284770:p.Gly283Asp	1					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D	p.G283D	NM_014476.5	NP_055291.2	0	1	1	1.777321	Q53GG5	PDLI3_HUMAN		7	921	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	1	1	hg19	c.848G>A	CCDS3844.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712702	0.48517	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.36340	1.26;2.13	5.53	4.64	0.57946	5.53	4.64	0.57946	.	0.243150	0.49305	D	0.000153	T	0.31670	0.0804	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.078	B;B	0.31751	0.135;0.082	T	0.16958	-1.0385	10	0.72032	D	0.01	-12.4155	13.0657	0.59032	0.0:0.6237:0.3763:0.0	.	235;283	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	283;235	ENSP00000284770:G283D;ENSP00000284771:G235D	ENSP00000284770:G283D	G	-	2	0	0	PDLIM3	186662680	186662680	0.799000	0.28903	0.028000	0.17463	0.008000	0.06430	4.880000	0.63107	2.770000	0.95276	0.655000	0.94253	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.532	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	0		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_014476			30	29		159	153	1		1	0		0	0	42	0		1	1	0	1	0	363	0	30	159
PDLIM3	27295	broad.mit.edu	37	4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284770.5	-	1	128	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W|PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	19	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682																																						ENST00000284770.5	1.000000	0.670000	9.800000e-01	8.100000e-01	0.910000	0.901843	0.910000	0.990000																										0				17						c.(55-57)Ggg>Tgg		PDZ and LIM domain 3							43.0	45.0	44.0					4																	186456534		2203	4300	6503	SO:0001583	missense	27295	0	0					g.chr4:186456534C>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.55G>T	chr4.hg19:g.186456534C>A	ENSP00000284770:p.Gly19Trp	1					PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	p.G19W	NM_014476.5	NP_055291.2	0	1	1	1.777321	Q53GG5	PDLI3_HUMAN		1	128	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	1	1	hg19	c.55G>T	CCDS3844.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833022	0.91036	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.34072	1.38;1.38;1.38	5.56	5.56	0.83823	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.098086	0.64402	D	0.000001	T	0.72391	0.3454	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.80670	-0.1279	10	0.87932	D	0	-14.7514	19.1243	0.93376	0.0:1.0:0.0:0.0	.	19;19;19	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	W	19	ENSP00000284770:G19W;ENSP00000284771:G19W;ENSP00000284767:G19W	ENSP00000284767:G19W	G	-	1	0	0	PDLIM3	186693528	186693528	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	6.262000	0.72514	2.619000	0.88677	0.555000	0.69702	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.682	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_014476			15	15		81	80	0		1	0		0	0	14	0		9.999109e-01	9.999881e-01	0	0	0	121	0	15	81
SORBS2	8470	broad.mit.edu	37	4	186545525	186545525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	ENST00000284776.7	-	13	1555	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P349L|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	349					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)			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)		AATGGCTCTTGGTGAGTCCCG	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000284776.7	1.000000	0.660000	9.700000e-01	7.700000e-01	0.880000	0.871993	0.880000	0.960000																										0				53						c.(1045-1047)cCa>cTa		sorbin and SH3 domain containing 2							72.0	73.0	73.0					4																	186545525		2203	4300	6503	SO:0001583	missense	8470	0	0					g.chr4:186545525G>A		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.1046C>T	chr4.hg19:g.186545525G>A	ENSP00000284776:p.Pro349Leu	1					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P349L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron	p.P349L	NM_021069.4	NP_066547.1	0	1	1	1.777321	O94875	SRBS2_HUMAN		13	1555	-		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)	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	1	1	hg19	c.1046C>T	CCDS3845.1	1	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084326	0.07097	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.33654	1.5;1.5;1.4;1.5	5.87	-2.43	0.06522	5.87	-2.43	0.06522	.	0.719070	0.14393	N	0.322388	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B;B	0.20887	0.013;0.049;0.028	B;B;B	0.12837	0.006;0.008;0.008	T	0.13872	-1.0493	10	0.48119	T	0.1	-1.8135	6.9316	0.24444	0.1099:0.0964:0.6321:0.1616	.	253;449;349	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	349;349;253;449	ENSP00000284776:P349L;ENSP00000411764:P349L;ENSP00000397482:P253L;ENSP00000347852:P449L	ENSP00000284776:P349L	P	-	2	0	0	SORBS2	186782519	186782519	0.672000	0.27530	0.002000	0.10522	0.026000	0.11368	0.538000	0.23160	-0.343000	0.08351	-0.538000	0.04264	CCA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.806910	1	0.170000	NM_003603			34	34		340	332	0		1			0	0	80	0		1	0	0	0	0	0	0	34	340
TLR3	7098	broad.mit.edu	37	4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	69					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)			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)		ATTACCAGCCGCCAACTTCAC	0.443																																						ENST00000296795.3	1.000000	0.930000	1	9.600000e-01	0.980000	0.986444	0.980000	0.990000																										0				29						c.(205-207)Gcc>Acc		toll-like receptor 3							129.0	126.0	127.0					4																	186997978		2203	4300	6503	SO:0001583	missense	7098	2	121412	38				g.chr4:186997978G>A	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.205G>A	chr4.hg19:g.186997978G>A	ENSP00000296795:p.Ala69Thr	1						p.A69T	NM_003265.2	NP_003256.1	0	1	1	1.777321	O15455	TLR3_HUMAN		2	309	+		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)	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	1	1	hg19	c.205G>A	CCDS3846.1	1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509490	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	0.42;-1.28	5.47	3.74	0.42951	5.47	3.74	0.42951	.	0.523286	0.21012	N	0.081664	T	0.64136	0.2571	N	0.13098	0.295	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.53229	-0.8468	10	0.16420	T	0.52	.	11.372	0.49704	0.0664:0.0:0.8068:0.1268	.	69	O15455	TLR3_HUMAN	T	69	ENSP00000296795:A69T;ENSP00000423386:A69T	ENSP00000296795:A69T	A	+	1	0	0	TLR3	187234972	187234972	0.553000	0.26513	0.993000	0.49108	0.020000	0.10135	3.182000	0.50910	0.776000	0.33473	-0.188000	0.12872	GCC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-3.581404	1	0.170000				89	89		333	328	1		1	1		0	0	91	0		1	9.999975e-01	0	18	0	54	0	89	333
TLR3	7098	broad.mit.edu	37	4	187000170	187000170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	206					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)			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)		AGTTGTCATCGAATCAAATTA	0.323																																						ENST00000296795.3	1.000000	0.780000	9.900000e-01	8.800000e-01	0.950000	0.941606	0.950000	0.990000																										0				29						c.(616-618)tcG>tcA		toll-like receptor 3							24.0	27.0	26.0					4																	187000170		2194	4292	6486	SO:0001819	synonymous_variant	7098	1	121346	28				g.chr4:187000170G>A	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.618G>A	chr4.hg19:g.187000170G>A		1					TLR3_ENST00000504367.1_5'Flank	p.S206S	NM_003265.2	NP_003256.1	0	1	1	1.777321	O15455	TLR3_HUMAN		3	722	+		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)	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	1	1	hg19	c.618G>A	CCDS3846.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.323	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-15.959850	1	0.170000				24	24		106	106	1		1	1		0	0	38	0		9.999999e-01	9.945076e-01	0	9	0	31	0	24	106
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000296795.3	1.000000	0.860000	1	9.200000e-01	0.970000	0.964790	0.970000	0.990000																										1	Substitution - Nonsense(1)	p.E446*(1)	large_intestine(1)	29						c.(1336-1338)Gaa>Taa		toll-like receptor 3							63.0	60.0	61.0					4																	187004176		2203	4300	6503	SO:0001587	stop_gained	7098	0	0					g.chr4:187004176G>T	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	chr4.hg19:g.187004176G>T	ENSP00000296795:p.Glu446*	1					TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	p.E446*	NM_003265.2	NP_003256.1	0	1	1	1.777321	O15455	TLR3_HUMAN		4	1440	+		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)	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	0	1	hg19	c.1336G>T	CCDS3846.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	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	0	TLR3	187241170	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	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.423	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				51	50		285	282	1		1	1		0	0	76	0		1	9.999756e-01	0	7	0	83	0	51	285
FAM149A	25854	broad.mit.edu	37	4	187074871	187074871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000356371.5	+	5	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	344										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)		CTCCTGCCTCCGCAGTCCACA	0.507																																						ENST00000356371.5	1.000000	0.960000	1	9.800000e-01	0.990000	0.994923	0.990000	1.000000																										0				25						c.(1030-1032)tcC>tcT		family with sequence similarity 149, member A							118.0	127.0	124.0					4																	187074871		2203	4300	6503	SO:0001819	synonymous_variant	25854	6	121412	41				g.chr4:187074871C>T	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.1032C>T	chr4.hg19:g.187074871C>T		1					FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR	p.S344S			0	1	1	1.777321	A5PLN7	F149A_HUMAN		5	1032	+		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)	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	1	1	hg19	c.1032C>T		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.507	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-3.112821	1	0.170000	NM_001006655			200	198		779	773	1		1	1		0	0	186	0		1	9.983276e-01	0	15	0	24	0	200	779
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A	rs201494456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(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)		GTTTGATCACGTCTGGACAAA	0.463																																						ENST00000356371.5	1.000000	0.870000	1	9.300000e-01	0.970000	0.968399	0.970000	0.990000																										1	Substitution - Missense(1)	p.V170I(1)	lung(1)	25						c.(1381-1383)Gtc>Atc		family with sequence similarity 149, member A		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	120.0	112.0	114.0		508,508	2.8	0.3	4		114	0,8600		0,0,4300	yes	missense,missense	FAM149A	NM_015398.2,NM_001006655.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	170/483,170/483	187077278	1,13005	2203	4300	6503	SO:0001583	missense	25854	15	121412	45				g.chr4:187077278G>A	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.1381G>A	chr4.hg19:g.187077278G>A	ENSP00000348732:p.Val461Ile	1					FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR	p.V461I			0	1	1	1.777321	A5PLN7	F149A_HUMAN		7	1381	+		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)	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	1	1	hg19	c.1381G>A		1	.	.	.	.	.	.	.	.	.	.	G	6.974	0.549723	0.13374	2.27E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.16196	2.42;2.36;2.42;2.42;2.42;2.42	5.46	2.83	0.33086	5.46	2.83	0.33086	.	0.777035	0.12119	N	0.497815	T	0.15522	0.0374	M	0.61703	1.905	0.09310	N	1	P;B;B	0.37500	0.597;0.339;0.304	B;B;B	0.26094	0.066;0.018;0.012	T	0.09335	-1.0679	10	0.36615	T	0.2	-12.3057	9.8554	0.41082	0.2838:0.0:0.7162:0.0	.	461;461;170	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	170;461;170;170;170;170	ENSP00000426835:V170I;ENSP00000348732:V461I;ENSP00000227065:V170I;ENSP00000427155:V170I;ENSP00000424380:V170I;ENSP00000374005:V170I	ENSP00000227065:V170I	V	+	1	0	0	FAM149A	187314272	187314272	0.036000	0.19791	0.305000	0.25099	0.089000	0.18198	0.262000	0.18460	0.445000	0.26639	0.650000	0.86243	GTC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.463	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_001006655			76	75		516	512	1		1	1		0	0	98	0		1	9.619739e-01	0	3	0	35	0	76	516
FAM149A	25854	broad.mit.edu	37	4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T	rs548671208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000356371.5	+	8	1496	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	499										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)		AACAGATTTCCGCACGTCCTC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.001					ENST00000356371.5	1.000000	0.860000	1	9.200000e-01	0.960000	0.963652	0.960000	0.990000																										0				25						c.(1495-1497)cCg>cTg		family with sequence similarity 149, member A							72.0	81.0	78.0					4																	187078767		2203	4300	6503	SO:0001583	missense	25854	11	121412	40				g.chr4:187078767C>T	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.1496C>T	chr4.hg19:g.187078767C>T	ENSP00000348732:p.Pro499Leu	1					FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR	p.P499L			0	1	1	1.777321	A5PLN7	F149A_HUMAN		8	1496	+		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)	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	1	1	hg19	c.1496C>T		1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353175	0.24512	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13307	2.63;2.6;2.63;2.63;2.63;2.63	4.77	2.07	0.26955	4.77	2.07	0.26955	.	0.475510	0.22929	N	0.053939	T	0.10165	0.0249	L	0.48362	1.52	0.09310	N	1	B;B;B	0.28850	0.054;0.032;0.225	B;B;B	0.17722	0.011;0.006;0.019	T	0.21449	-1.0245	10	0.51188	T	0.08	-2.3135	5.3957	0.16268	0.1608:0.6666:0.0:0.1725	.	499;499;208	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	208;499;208;208;208;208	ENSP00000426835:P208L;ENSP00000348732:P499L;ENSP00000227065:P208L;ENSP00000427155:P208L;ENSP00000424380:P208L;ENSP00000374005:P208L	ENSP00000227065:P208L	P	+	2	0	0	FAM149A	187315761	187315761	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.326000	0.23384	-0.272000	0.10252	CCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.512	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.667051	1	0.170000	NM_001006655			53	53		314	309	1		1	1		0	0	81	0		1	9.840818e-01	0	6	0	35	0	53	314
FAM149A	25854	broad.mit.edu	37	4	187084635	187084635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000356371.5	+	10	1764	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588										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)		CCTCCGCACCGCACAGACTGG	0.557																																						ENST00000356371.5	1.000000	0.760000	9.900000e-01	8.600000e-01	0.930000	0.928600	0.930000	0.990000																										0				25						c.(1762-1764)ccG>ccA		family with sequence similarity 149, member A							82.0	78.0	80.0					4																	187084635		2203	4300	6503	SO:0001819	synonymous_variant	25854	1	121412	34				g.chr4:187084635G>A	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.1764G>A	chr4.hg19:g.187084635G>A		1					FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P	p.P588P			0	1	1	1.777321	A5PLN7	F149A_HUMAN		10	1764	+		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)	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	1	1	hg19	c.1764G>A		1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.557	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.505885	1	0.170000	NM_001006655			39	39		305	298	1		1	1		0	0	77	0		1	9.209622e-01	0	5	0	31	0	39	305
FAM149A	25854	broad.mit.edu	37	4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T	rs201664528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000356371.5	+	13	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	724										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)		TTCCAGCAGTCGGATACGCCT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0					ENST00000356371.5	1.000000	0.950000	1	9.700000e-01	0.990000	0.992557	0.990000	0.990000																										0				25						c.(2170-2172)tCg>tTg		family with sequence similarity 149, member A							108.0	109.0	109.0					4																	187088339		2203	4300	6503	SO:0001583	missense	25854	2	121412	38				g.chr4:187088339C>T	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.2171C>T	chr4.hg19:g.187088339C>T	ENSP00000348732:p.Ser724Leu	1					FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L	p.S724L			0	1	1	1.777321	A5PLN7	F149A_HUMAN		13	2171	+		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)	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	1	1	hg19	c.2171C>T		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	8.648|8.648	0.897607|0.897607	0.17686|0.17686	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.14391	.|2.56;2.51;2.56;2.56;2.56;2.56	5.62|5.62	-0.166|-0.166	0.13351|0.13351	5.62|5.62	-0.166|-0.166	0.13351|0.13351	.|.	.|0.864286	.|0.10118	.|N	.|0.713851	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.41824|0.41824	1.3|1.3	0.20403|0.20403	N|N	0.999901|0.999901	.|B;B	.|0.17667	.|0.023;0.017	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.0171|-0.0171	12.6812|12.6812	0.56922|0.56922	0.0:0.6903:0.0:0.3097|0.0:0.6903:0.0:0.3097	.|.	.|723;724	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	W|L	111|433;724;433;433;433;433	.|ENSP00000426835:S433L;ENSP00000348732:S724L;ENSP00000227065:S433L;ENSP00000427155:S433L;ENSP00000424380:S433L;ENSP00000374005:S433L	.|ENSP00000227065:S433L	R|S	+|+	1|2	2|0	2|0	FAM149A|FAM149A	187325333|187325333	187325333|187325333	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.223000|-0.223000	0.09177|0.09177	-0.404000|-0.404000	0.07610|0.07610	-2.368000|-2.368000	0.00236|0.00236	CGG|TCG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-4.861274	1	0.170000	NM_001006655			136	134		452	446	1		1	1		0	0	116	0		1	9.995437e-01	0	6	0	34	0	136	452
CYP4V2	285440	broad.mit.edu	37	4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					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)			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)		GCACAAGGGCGCCATCCATAT	0.542																																						ENST00000378802.4	1.000000	0.700000	9.700000e-01	8.000000e-01	0.890000	0.891673	0.890000	0.960000																										0				20						c.(1354-1356)cGc>cAc		cytochrome P450, family 4, subfamily V, polypeptide 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	105.0	109.0		1355	5.4	1.0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP4V2	NM_207352.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	452/526	187130376	3,13003	2203	4300	6503	SO:0001583	missense	285440	15	121412	46				g.chr4:187130376G>A	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.1355G>A	chr4.hg19:g.187130376G>A	ENSP00000368079:p.Arg452His	1					CYP4V2_ENST00000502665.1_3'UTR	p.R452H	NM_207352.3	NP_997235.3	0	1	1	1.777321	Q6ZWL3	CP4V2_HUMAN		10	1659	+		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)	B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	1	1	hg19	c.1355G>A	CCDS34119.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899179|4.899179	0.91962|0.91962	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000164344|ENSG00000145476	ENST00000511608|ENST00000378802;ENST00000274118	.|T	.|0.70869	.|-0.52	5.39|5.39	5.39|5.39	0.77823|0.77823	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.053681	.|0.64402	.|D	.|0.000001	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88965|0.88965	0.3396|0.3396	5|10	.|0.87932	.|D	.|0	.|.	19.34|19.34	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452	.|Q6ZWL3	.|CP4V2_HUMAN	T|H	51|452;430	.|ENSP00000368079:R452H	.|ENSP00000274118:R430H	A|R	+|+	1|2	0|0	0|0	KLKB1|CYP4V2	187367370|187367370	187367370|187367370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	8.847000|8.847000	0.92166|0.92166	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.542	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.142702	1	0.170000	XM_209612			49	49		489	480	0		1	1		0	0	100	0		1	9.999991e-01	0	28	0	174	0	49	489
KLKB1	3818	broad.mit.edu	37	4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	553	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)			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)		GAAAAGATATCAAGATTATAA	0.343																																						ENST00000264690.6	1.000000	0.910000	1	9.500000e-01	0.980000	0.981617	0.980000	0.990000																										0				40						c.(1657-1659)Caa>Taa		kallikrein B, plasma (Fletcher factor) 1							84.0	97.0	93.0					4																	187178451		2201	4298	6499	SO:0001587	stop_gained	3818	0	0					g.chr4:187178451C>T	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.1657C>T	chr4.hg19:g.187178451C>T	ENSP00000264690:p.Gln553*	1					KLKB1_ENST00000513864.1_Intron	p.Q553*	NM_000892.3	NP_000883.2	0	1	1	1.777321	P03952	KLKB1_HUMAN		14	1844	+		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)	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonsense_Mutation	SNP	ENST00000264690.6	0	1	hg19	c.1657C>T	CCDS34120.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000164344	ENST00000264690	.	.	.	5.97	-5.56	0.02529	5.97	-5.56	0.02529	.	0.771417	0.12142	N	0.495758	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4025	0.21646	0.1991:0.5394:0.1817:0.0798	.	.	.	.	X	553	.	ENSP00000264690:Q553X	Q	+	1	0	0	KLKB1	187415445	187415445	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	0.460000	0.21924	-0.347000	0.08299	-1.112000	0.02068	CAA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.343	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_000892			76	75		334	328	1		1	0		0	0	106	0		1	0	0	0	0	1	0	76	334
MTNR1A	4543	broad.mit.edu	37	4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	322					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448																																						ENST00000307161.5	1.000000	0.950000	1	9.700000e-01	0.990000	0.992075	0.990000	0.990000																										0				14						c.(964-966)Gac>Aac		melatonin receptor 1A	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)						139.0	136.0	137.0					4																	187454932		2203	4300	6503	SO:0001583	missense	4543	0	0					g.chr4:187454932C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.964G>A	chr4.hg19:g.187454932C>T	ENSP00000302811:p.Asp322Asn	1					RP11-215A19.2_ENST00000509111.1_Intron	p.D322N	NM_005958.3	NP_005949.1	0	1	1	1.777321	P48039	MTR1A_HUMAN		2	1165	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	1	1	hg19	c.964G>A	CCDS3848.1	1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536802	0.27475	.	.	ENSG00000168412	ENST00000307161	T	0.71817	-0.6	4.66	3.7	0.42460	4.66	3.7	0.42460	.	0.265700	0.42172	D	0.000753	T	0.67832	0.2935	M	0.63428	1.95	0.40875	D	0.983943	B	0.15141	0.012	B	0.14023	0.01	T	0.65845	-0.6069	10	0.41790	T	0.15	-3.7703	14.9647	0.71182	0.0:0.8057:0.1943:0.0	.	322	P48039	MTR1A_HUMAN	N	322	ENSP00000302811:D322N	ENSP00000302811:D322N	D	-	1	0	0	MTNR1A	187691926	187691926	1.000000	0.71417	0.937000	0.37676	0.114000	0.19823	4.341000	0.59335	0.990000	0.38787	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1	0	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-20.000000	1	0.170000				139	137		525	511	1		1			0	0	135	0		1	0	0	0	0	0	0	139	525
FAT1	2195	broad.mit.edu	37	4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3103	Cadherin 28. {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)			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						AATCTTCCTCCTCCATCTGTG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.910000	1	9.500000e-01	0.980000	0.980419	0.980000	0.990000																										0				228						c.(9307-9309)Gga>Tga		FAT atypical cadherin 1							89.0	95.0	93.0					4																	187534419		2040	4183	6223	SO:0001587	stop_gained	2195	0	0					g.chr4:187534419C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9307G>T	chr4.hg19:g.187534419C>A	ENSP00000406229:p.Gly3103*	1	HNSCC(5;0.00058)					p.G3103*	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		13	9516	-				Nonsense_Mutation	SNP	ENST00000441802.2	0	1	hg19	c.9307G>T	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	50	16.944003	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.051105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	.	.	.	X	3103;3105	.	ENSP00000260147:G3105X	G	-	1	0	0	FAT1	187771413	187771413	1.000000	0.71417	0.984000	0.44739	0.031000	0.12232	7.638000	0.83328	2.712000	0.92718	0.609000	0.83330	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-3.649135	1	0.170000	NM_005245			67	66		267	261	0		1	1		0	0	82	0		1	1	0	61	0	318	0	67	267
FAT1	2195	broad.mit.edu	37	4	187535439	187535439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3045	Cadherin 28. {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)			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						CTGTAGCAGAGATCTGCATGA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.930000	1	9.600000e-01	0.980000	0.985666	0.980000	0.990000																										0				228						c.(9133-9135)atC>atA		FAT atypical cadherin 1							148.0	140.0	142.0					4																	187535439		1883	4106	5989	SO:0001819	synonymous_variant	2195	0	0					g.chr4:187535439G>T	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.9135C>A	chr4.hg19:g.187535439G>T		1	HNSCC(5;0.00058)					p.I3045I	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		12	9344	-				Silent	SNP	ENST00000441802.2	1	1	hg19	c.9135C>A	CCDS47177.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_005245			85	84		319	314	1		1	1		0	0	101	0		1	1	0	60	0	233	0	85	319
FAT1	2195	broad.mit.edu	37	4	187538356	187538356	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.690000	9.800000e-01	8.200000e-01	0.920000	0.906411	0.920000	0.990000																										0				228						c.e11-1		FAT atypical cadherin 1							78.0	70.0	72.0					4																	187538356		1792	4069	5861	SO:0001630	splice_region_variant	2195	0	0					g.chr4:187538356C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8879-1G>T	chr4.hg19:g.187538356C>A		1	HNSCC(5;0.00058)						NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		11	9088	-				Splice_Site	SNP	ENST00000441802.2	1	1	hg19		CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533090	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.37	4.37	0.52481	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4566	0.87609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	FAT1	187775350	187775350	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.574000	0.82434	2.427000	0.82271	0.557000	0.71058	.	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.313	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.234788	1	0.170000	NM_005245	Intron		19	19		121	121	1		1	1		0	0	26	0		9.999942e-01	1.508247e-01	0	5	0	0	0	19	121
FAT1	2195	broad.mit.edu	37	4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2867	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)			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						TGTAATCCAGCCTGTTTCCAT	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.890000	1	9.400000e-01	0.970000	0.974052	0.970000	0.990000																										0				228						c.(8599-8601)gGc>gAc		FAT atypical cadherin 1							161.0	143.0	149.0					4																	187539140		1938	4159	6097	SO:0001583	missense	2195	0	0					g.chr4:187539140C>T	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.8600G>A	chr4.hg19:g.187539140C>T	ENSP00000406229:p.Gly2867Asp	1	HNSCC(5;0.00058)					p.G2867D	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		10	8809	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.8600G>A	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181797	0.78677	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57273	0.41	4.86	4.86	0.63082	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87138	0.2201	10	0.87932	D	0	.	18.5503	0.91062	0.0:1.0:0.0:0.0	.	2867	Q14517	FAT1_HUMAN	D	2867;2869	ENSP00000406229:G2867D	ENSP00000260147:G2869D	G	-	2	0	0	FAT1	187776134	187776134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.682000	0.91365	0.650000	0.86243	GGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_005245			53	52		220	216	1		1	1		0	0	58	0		1	1	0	65	0	260	0	53	220
FAT1	2195	broad.mit.edu	37	4	187539828	187539828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539828C>A	ENST00000441802.2	-	10	8121	c.7912G>T	c.(7912-7914)Gac>Tac	p.D2638Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2638	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)			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						CTTTCAGAGTCTGCTTCAATG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	0.750000	0.190000	5.900000e-01	2.900000e-01	0.420000	0.446569	0.420000	0.400000																										0				228						c.(7912-7914)Gac>Tac		FAT atypical cadherin 1							56.0	52.0	53.0					4																	187539828		1903	4125	6028	SO:0001583	missense	2195	0	0					g.chr4:187539828C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7912G>T	chr4.hg19:g.187539828C>A	ENSP00000406229:p.Asp2638Tyr	1	HNSCC(5;0.00058)					p.D2638Y	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		10	8121	-				Missense_Mutation	SNP	ENST00000441802.2	0	1	hg19	c.7912G>T	CCDS47177.1	0	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325419	0.60743	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53857	0.6	5.2	5.2	0.72013	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.198717	0.52532	D	0.000070	T	0.66742	0.2820	L	0.60845	1.875	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.67086	-0.5759	10	0.59425	D	0.04	.	14.8514	0.70300	0.0:0.8568:0.1432:0.0	.	2638	Q14517	FAT1_HUMAN	Y	2638;2640	ENSP00000406229:D2638Y	ENSP00000260147:D2640Y	D	-	1	0	0	FAT1	187776822	187776822	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.848000	0.69458	2.861000	0.98227	0.655000	0.94253	GAC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-9.593105	1	0.170000	NM_005245			7	6		173	165	0		1	1		0	0	46	0		9.774734e-01	9.980767e-01	0	10	0	299	0	7	173
FAT1	2195	broad.mit.edu	37	4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2470	Cadherin 22. {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)			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						TCTAAAAACTCCATCAGACAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	0.930000	0.600000	8.600000e-01	6.800000e-01	0.760000	0.773767	0.760000	0.770000																										0				228						c.(7408-7410)gGa>gTa		FAT atypical cadherin 1							201.0	199.0	199.0					4																	187540331		1956	4144	6100	SO:0001583	missense	2195	0	0					g.chr4:187540331C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7409G>T	chr4.hg19:g.187540331C>A	ENSP00000406229:p.Gly2470Val	1	HNSCC(5;0.00058)					p.G2470V	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		10	7618	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.7409G>T	CCDS47177.1	0	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532735	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04502	3.61	5.09	5.09	0.68999	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58482	-0.7629	10	0.72032	D	0.01	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	2470	Q14517	FAT1_HUMAN	V	2470;2472	ENSP00000406229:G2470V	ENSP00000260147:G2472V	G	-	2	0	0	FAT1	187777325	187777325	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.609000	0.82925	2.810000	0.96702	0.650000	0.86243	GGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	0		2	2	2	0		0	0	231		231	227	1	2.060000	-12.800080	1	0.170000	NM_005245			70	70		903	887	1		1	1		0	0	231	0		1	9.999607e-01	0	101	0	83	0	70	903
FAT1	2195	broad.mit.edu	37	4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22. {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)			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						GTGATAATCCCTGTTGCACTG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.730000	9.800000e-01	8.200000e-01	0.910000	0.904240	0.910000	0.970000																										0				228						c.(7333-7335)Ggg>Tgg		FAT atypical cadherin 1							148.0	154.0	152.0					4																	187540407		2059	4199	6258	SO:0001583	missense	2195	0	0					g.chr4:187540407C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7333G>T	chr4.hg19:g.187540407C>A	ENSP00000406229:p.Gly2445Trp	1	HNSCC(5;0.00058)					p.G2445W	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		10	7542	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.7333G>T	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683930	0.47991	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04654	3.58	5.24	5.24	0.73138	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	2445	Q14517	FAT1_HUMAN	W	2445;2447	ENSP00000406229:G2445W	ENSP00000260147:G2447W	G	-	1	0	0	FAT1	187777401	187777401	1.000000	0.71417	0.640000	0.29408	0.113000	0.19764	7.609000	0.82925	2.890000	0.99128	0.650000	0.86243	GGG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	0		2	2	2	0		0	0	174		174	173	1	2.060000	-2.297604	0	0.170000	NM_005245			61	60		604	591	1		1	1		0	0	174	0		1	1	0	125	0	122	0	61	604
FAT1	2195	broad.mit.edu	37	4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2349	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						TGCTCGTAATCCAGGGTTCTG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	0.960000	0.580000	8.900000e-01	6.700000e-01	0.770000	0.783117	0.770000	0.780000																										0				228						c.(7045-7047)Gat>Tat		FAT atypical cadherin 1							146.0	149.0	148.0					4																	187540695		2126	4237	6363	SO:0001583	missense	2195	0	0					g.chr4:187540695C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7045G>T	chr4.hg19:g.187540695C>A	ENSP00000406229:p.Asp2349Tyr	1	HNSCC(5;0.00058)					p.D2349Y	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		10	7254	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.7045G>T	CCDS47177.1	0	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803103	0.50315	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04275	3.66	5.45	5.45	0.79879	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64909	-0.6296	10	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	2349	Q14517	FAT1_HUMAN	Y	2349;2351	ENSP00000406229:D2349Y	ENSP00000260147:D2351Y	D	-	1	0	0	FAT1	187777689	187777689	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	GAT	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-10.581060	1	0.170000	NM_005245			47	46		593	579	1		1	1		0	0	156	0		1	9.999972e-01	0	122	0	113	0	47	593
FAT1	2195	broad.mit.edu	37	4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	965	Cadherin 8. {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)			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						GTCCAGAAGGCTGTATCTCAC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.760000	9.800000e-01	8.500000e-01	0.920000	0.918995	0.920000	0.990000																										0				228						c.(2893-2895)aGc>aAc		FAT atypical cadherin 1							184.0	175.0	178.0					4																	187628088		1923	4149	6072	SO:0001583	missense	2195	0	0					g.chr4:187628088C>T	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.2894G>A	chr4.hg19:g.187628088C>T	ENSP00000406229:p.Ser965Asn	1	HNSCC(5;0.00058)					p.S965N	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		2	3103	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.2894G>A	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165248	0.21538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54866	0.55	4.67	3.81	0.43845	4.67	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041576	0.85682	D	0.000000	T	0.58524	0.2128	M	0.67397	2.05	0.58432	D	0.999997	P	0.41159	0.74	P	0.46339	0.513	T	0.61441	-0.7062	10	0.42905	T	0.14	.	14.7591	0.69593	0.0:0.8416:0.1583:0.0	.	965	Q14517	FAT1_HUMAN	N	965	ENSP00000406229:S965N	ENSP00000260147:S965N	S	-	2	0	0	FAT1	187865082	187865082	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	4.708000	0.61859	1.285000	0.44548	0.491000	0.48974	AGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	183		183	182	1	2.060000	-19.807090	1	0.170000	NM_005245			75	73		728	726	1		1	1		0	0	183	0		1	9.999825e-01	0	84	0	66	0	75	728
FAT1	2195	broad.mit.edu	37	4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2. {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)			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						CATATCTGTTCGATCTTTAAA	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.830000	9.900000e-01	9.000000e-01	0.960000	0.955128	0.960000	0.990000																										0				228						c.(571-573)cGa>cAa		FAT atypical cadherin 1							117.0	118.0	118.0					4																	187630410		2109	4247	6356	SO:0001583	missense	2195	4	121102	38				g.chr4:187630410C>T	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.572G>A	chr4.hg19:g.187630410C>T	ENSP00000406229:p.Arg191Gln	1	HNSCC(5;0.00058)					p.R191Q	NM_005245.3	NP_005236.2	0	1	1	1.777321	Q14517	FAT1_HUMAN		2	781	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.572G>A	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388905	0.82902	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60299	0.2;0.2	5.2	5.2	0.72013	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.123299	0.56097	D	0.000030	T	0.54902	0.1887	N	0.19112	0.55	0.47476	D	0.999434	D	0.59767	0.986	P	0.54590	0.756	T	0.46247	-0.9205	10	0.14252	T	0.57	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	191	Q14517	FAT1_HUMAN	Q	191	ENSP00000406229:R191Q;ENSP00000423736:R191Q	ENSP00000260147:R191Q	R	-	2	0	0	FAT1	187867404	187867404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.909000	0.56363	2.704000	0.92352	0.591000	0.81541	CGA	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-3.142702	1	0.170000	NM_005245			62	62		460	452	1		1	1		0	0	121	0		1	9.998444e-01	0	45	0	51	0	62	460
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498																																						ENST00000326866.4	1.000000	0.910000	1	9.500000e-01	0.980000	0.981781	0.980000	0.990000																										0				27						c.(763-765)cGc>cAc		ZFP42 zinc finger protein							82.0	83.0	83.0					4																	188924725		2203	4300	6503	SO:0001583	missense	132625	0	0					g.chr4:188924725G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	chr4.hg19:g.188924725G>A	ENSP00000317686:p.Arg255His	1					ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	p.R255H	NM_174900.3	NP_777560.2	0	1	1	1.777321	Q96MM3	ZFP42_HUMAN		4	1172	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	1	1	hg19	c.764G>A	CCDS3849.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	0	ZFP42	189161719	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_174900			62	59		189	185	1		1			0	0	47	0		1	0	0	0	0	0	0	62	189
TRIML2	205860	broad.mit.edu	37	4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			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)		AGGGACATCTCGGTCACATTG	0.493																																						ENST00000512729.1	1.000000	0.950000	1	9.700000e-01	0.980000	0.990480	0.980000	0.990000																										0				39						c.(1012-1014)Gag>Aag		tripartite motif family-like 2							158.0	166.0	163.0					4																	189012679		2203	4300	6503	SO:0001583	missense	205860	0	0					g.chr4:189012679C>T	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.1012G>A	chr4.hg19:g.189012679C>T	ENSP00000422581:p.Glu338Lys	1					TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	p.E338K	NM_173553.1	NP_775824.1	0	1	1	1.777321	Q8N7C3	TRIMM_HUMAN		7	1386	-		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)	B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	1	1	hg19	c.1012G>A	CCDS3850.1	1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519012	0.13005	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61040	0.14;0.14	5.85	-0.853	0.10709	5.85	-0.853	0.10709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.063480	0.07343	N	0.881033	T	0.30759	0.0775	N	0.10972	0.075	0.09310	N	1	B;P	0.34724	0.268;0.465	B;B	0.21151	0.033;0.033	T	0.10917	-1.0609	10	0.39692	T	0.17	.	7.1236	0.25458	0.0:0.5251:0.232:0.2429	.	363;338	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	338;363	ENSP00000422581:E338K;ENSP00000317498:E363K	ENSP00000317498:E363K	E	-	1	0	0	TRIML2	189249673	189249673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.136000	0.11475	-0.176000	0.13171	GAG	9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_173553			120	118		453	450	1		1			0	0	108	0		1	0	0	0	0	0	0	120	453
ZNF141	7700	broad.mit.edu	37	4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378																																						ENST00000240499.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(907-909)Cga>Tga		zinc finger protein 141							75.0	85.0	82.0					4																	367133		2202	4299	6501	SO:0001587	stop_gained	7700	0	0					g.chr4:367133C>T	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.907C>T	chr4.hg19:g.367133C>T	ENSP00000240499:p.Arg303*	0					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R303*	NM_003441.2	NP_003432.1	1	2	3	1.998139	Q15928	ZN141_HUMAN		4	1056	+			Q6DK07	Nonsense_Mutation	SNP	ENST00000240499.7	0	0	hg19	c.907C>T	CCDS33931.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	2	ZNF141	357133	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-3.019274	1	0.170000	NM_003441			65	64		371	363	1		1	0		0	0	120	0		1	2.241722e-01	0	1	0	5	0	65	371
ZNF141	7700	broad.mit.edu	37	4	367319	367319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	ENST00000240499.7	+	4	1242	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	365					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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TACTGGAGAGCGGCCCTACAA	0.408																																						ENST00000240499.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1093-1095)Cgg>Tgg		zinc finger protein 141							38.0	40.0	40.0					4																	367319		2203	4299	6502	SO:0001583	missense	7700	3	121408	32				g.chr4:367319C>T	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.1093C>T	chr4.hg19:g.367319C>T	ENSP00000240499:p.Arg365Trp	0					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R365W	NM_003441.2	NP_003432.1	1	2	3	1.998139	Q15928	ZN141_HUMAN		4	1242	+			Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	1	0	hg19	c.1093C>T	CCDS33931.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212050	0.58452	.	.	ENSG00000131127	ENST00000240499	T	0.20332	2.08	1.24	-0.479	0.12089	1.24	-0.479	0.12089	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.68317	2.08	0.23036	N	0.998398	D	0.56746	0.977	P	0.58780	0.845	T	0.14227	-1.0480	8	.	.	.	.	5.2197	0.15362	0.6988:0.3011:0.0:0.0	.	365	Q15928	ZN141_HUMAN	W	365	ENSP00000240499:R365W	.	R	+	1	2	2	ZNF141	357319	357319	0.822000	0.29219	0.010000	0.14722	0.560000	0.35617	1.523000	0.35932	-0.405000	0.07599	-0.875000	0.02981	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-4.075306	1	0.170000	NM_003441			72	72		237	228	1		1	0		0	0	60	0		1	7.154250e-01	0	0	0	10	0	72	237
ZNF141	7700	broad.mit.edu	37	4	367647	367647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	474			T -> I (in PAPA6). {ECO:0000269|PubMed:23160277}.		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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328																																						ENST00000240499.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1420-1422)aCt>aAt		zinc finger protein 141							48.0	54.0	52.0					4																	367647		2190	4287	6477	SO:0001583	missense	7700	0	0					g.chr4:367647C>A	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.1421C>A	chr4.hg19:g.367647C>A	ENSP00000240499:p.Thr474Asn	0					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.T474N	NM_003441.2	NP_003432.1	1	2	3	1.998139	Q15928	ZN141_HUMAN		4	1570	+			Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	1	1	hg19	c.1421C>A	CCDS33931.1	1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004459	0.35320	.	.	ENSG00000131127	ENST00000240499	T	0.07444	3.19	1.24	-0.242	0.13039	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.54863	1.705	0.23594	N	0.997339	D	0.76494	0.999	D	0.81914	0.995	T	0.11842	-1.0571	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	474	Q15928	ZN141_HUMAN	N	474	ENSP00000240499:T474N	.	T	+	2	0	0	ZNF141	357647	357647	0.021000	0.18746	0.018000	0.16275	0.226000	0.24999	0.903000	0.28475	0.591000	0.29711	0.313000	0.20887	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1		13	2	2	0		0	1	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_003441			72	70		304	296	1		1	1		0	0	105	0		1	7.007508e-01	0	2	0	10	0	72	304
PIGG	54872	broad.mit.edu	37	4	524230	524230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	756					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)			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						TTTAGGGGTATTATTGAAGCT	0.378																																						ENST00000453061.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2266-2268)aTt>aGt		phosphatidylinositol glycan anchor biosynthesis, class G							100.0	100.0	100.0					4																	524230		2203	4300	6503	SO:0001583	missense	54872	0	0					g.chr4:524230T>G		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.2267T>G	chr4.hg19:g.524230T>G	ENSP00000415203:p.Ile756Ser	0					PIGG_ENST00000383028.4_Missense_Mutation_p.I623S|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S	p.I756S	NM_001127178.1	NP_001120650.1	1	2	3	1.998139	Q5H8A4	PIGG_HUMAN		11	2373	+			B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	1	1	hg19	c.2267T>G	CCDS46992.1	1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381845	0.61845	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12569	2.99;2.99;2.67;2.67	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.143965	0.64402	D	0.000007	T	0.18341	0.0440	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.702;0.729;0.823	B;B;B	0.42495	0.294;0.218;0.389	T	0.05099	-1.0906	10	0.16420	T	0.52	-14.3867	14.0652	0.64824	0.0:0.0:0.0:1.0	.	623;756;748	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	748;756;667;623	ENSP00000311750:I748S;ENSP00000415203:I756S;ENSP00000424800:I667S;ENSP00000372494:I623S	ENSP00000311750:I748S	I	+	2	0	0	PIGG	514230	514230	1.000000	0.71417	0.027000	0.17364	0.974000	0.67602	5.364000	0.66110	2.263000	0.75096	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_017733			73	71		391	388	1		1	1		0	0	65	0		1	9.960276e-01	0	3	0	44	0	73	391
PIGG	54872	broad.mit.edu	37	4	527709	527709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					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)			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						GTTTGGGACGTACGCAGGGCC	0.607																																						ENST00000453061.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2674-2676)Tac>Cac		phosphatidylinositol glycan anchor biosynthesis, class G							90.0	78.0	82.0					4																	527709		2203	4300	6503	SO:0001583	missense	54872	0	0					g.chr4:527709T>C		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.2674T>C	chr4.hg19:g.527709T>C	ENSP00000415203:p.Tyr892His	0					PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H	p.Y892H	NM_001127178.1	NP_001120650.1	1	2	3	1.998139	Q5H8A4	PIGG_HUMAN		12	2780	+			B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	1	1	hg19	c.2674T>C	CCDS46992.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	0	PIGG	517709	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_017733			52	52		281	281	1		1	1		0	0	67	0		1	9.999974e-01	0	62	0	42	0	52	281
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T	rs199974771	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000496514.1	+	1	153	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000255622.6_Silent_p.C44C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CGCCGGACTGCGACAGCCTCC	0.632																																					GBM(71;463 1194 9848 25922 46834)	ENST00000496514.1	1.000000	0.830000	1	9.800000e-01	0.990000	0.984982	0.990000	1.000000																										0				30						c.(130-132)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta	Caffeine(DB00201)						38.0	41.0	40.0					4																	619547		2203	4300	6503	SO:0001819	synonymous_variant	5158	192	121402	53				g.chr4:619547C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.132C>T	chr4.hg19:g.619547C>T		0					PDE6B_ENST00000255622.6_Silent_p.C44C	p.C44C			1	2	3	1.998139	P35913	PDE6B_HUMAN		1	153	+			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	1	1	hg19	c.132C>T	CCDS33932.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	0	0	1		2	2	2	0		0	0	59		59	54	1	2.060000	-20.000000	1	0.170000	NM_000283			35	34		323	321	0		1			0	0	59	0		1	0	0	0	0	0	0	35	323
PDE6B	5158	broad.mit.edu	37	4	649781	649781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000496514.1	+	7	1066	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T|PDE6B_ENST00000255622.6_Missense_Mutation_p.A349T|RP11-1191J2.2_ENST00000468356.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	349	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AAGCTACGTGGCAGAAAGCGG	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000496514.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1045-1047)Gca>Aca		phosphodiesterase 6B, cGMP-specific, rod, beta	Caffeine(DB00201)						96.0	82.0	87.0					4																	649781		2203	4300	6503	SO:0001583	missense	5158	0	0					g.chr4:649781G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1045G>A	chr4.hg19:g.649781G>A	ENSP00000420295:p.Ala349Thr	0					RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.A349T|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T	p.A349T			1	2	3	1.998139	P35913	PDE6B_HUMAN		7	1066	+			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	1	1	hg19	c.1045G>A	CCDS33932.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.098517	0.94197	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000487902;ENST00000429163	T;T;T;T	0.76186	-0.47;-0.47;-1.0;-0.47	4.94	4.94	0.65067	4.94	4.94	0.65067	GAF (2);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.92555	3.32	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.59643	0.861;0.783	D	0.90962	0.4813	10	0.87932	D	0	.	15.6552	0.77129	0.0:0.0:1.0:0.0	.	349;349	P35913;P35913-2	PDE6B_HUMAN;.	T	349;349;70;70	ENSP00000255622:A349T;ENSP00000420295:A349T;ENSP00000418256:A70T;ENSP00000406334:A70T	ENSP00000255622:A349T	A	+	1	0	0	PDE6B	639781	639781	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.409000	0.97331	2.275000	0.75901	0.561000	0.74099	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	0	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-3.317217	1	0.170000	NM_000283			53	51		243	241	1		1			0	0	60	0		1	0	0	0	0	0	0	53	243
PDE6B	5158	broad.mit.edu	37	4	655986	655986	+	Missense_Mutation	SNP	C	C	T	rs201541131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	ENST00000496514.1	+	13	1699	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C|PDE6B_ENST00000255622.6_Missense_Mutation_p.R560C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	560					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCACAACTGGCGCCACGGCTT	0.622													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	ENST00000496514.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999011	0.990000	1.000000																										0				30						c.(1678-1680)Cgc>Tgc		phosphodiesterase 6B, cGMP-specific, rod, beta	Caffeine(DB00201)						50.0	39.0	42.0					4																	655986		2197	4289	6486	SO:0001583	missense	5158	3	120168	26				g.chr4:655986C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1678C>T	chr4.hg19:g.655986C>T	ENSP00000420295:p.Arg560Cys	0					PDE6B_ENST00000255622.6_Missense_Mutation_p.R560C|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C	p.R560C			1	2	3	1.998139	P35913	PDE6B_HUMAN		13	1699	+			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	1	1	hg19	c.1678C>T	CCDS33932.1	1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544052	0.65198	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78816	-1.21;-1.21;-1.21	4.41	3.54	0.40534	4.41	3.54	0.40534	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	0.87799	0.6268	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.924	D	0.88428	0.3033	10	0.87932	D	0	.	11.1833	0.48642	0.1854:0.8145:0.0:0.0	.	560;560	P35913;P35913-2	PDE6B_HUMAN;.	C	560;560;281	ENSP00000255622:R560C;ENSP00000420295:R560C;ENSP00000406334:R281C	ENSP00000255622:R560C	R	+	1	0	0	PDE6B	645986	645986	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.559000	0.36320	0.800000	0.34041	0.558000	0.71614	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.977330	1	0.170000	NM_000283			11	11		44	43	1		1	0		0	0	9	0		9.987915e-01	1.191670e-01	0	0	0	3	0	11	44
PDE6B	5158	broad.mit.edu	37	4	661780	661780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000496514.1	+	21	2509	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	830					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGAGGAGAGGGTGGCAGCCAA	0.552																																					GBM(71;463 1194 9848 25922 46834)	ENST00000496514.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2488-2490)Gtg>Atg		phosphodiesterase 6B, cGMP-specific, rod, beta	Caffeine(DB00201)						78.0	85.0	82.0					4																	661780		2203	4300	6503	SO:0001583	missense	5158	0	0					g.chr4:661780G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2488G>A	chr4.hg19:g.661780G>A	ENSP00000420295:p.Val830Met	0					PDE6B_ENST00000255622.6_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M	p.V830M			1	2	3	1.998139	P35913	PDE6B_HUMAN		21	2509	+			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	1	1	hg19	c.2488G>A	CCDS33932.1	1	.	.	.	.	.	.	.	.	.	.	g	7.518	0.656106	0.14580	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66280	-0.05;-0.04;-0.2	4.23	-3.38	0.04883	4.23	-3.38	0.04883	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.289310	0.05632	N	0.581881	T	0.34658	0.0905	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.004;0.009	T	0.23154	-1.0196	10	0.48119	T	0.1	.	5.6111	0.17406	0.3723:0.3678:0.2599:0.0	.	830;830	P35913;P35913-2	PDE6B_HUMAN;.	M	830;830;551	ENSP00000255622:V830M;ENSP00000420295:V830M;ENSP00000406334:V551M	ENSP00000255622:V830M	V	+	1	0	0	PDE6B	651780	651780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.301000	0.08882	-0.856000	0.03024	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	1	0	0		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_000283			108	107		521	496	1		1	0		0	0	107	0		1	6.365110e-01	0	0	0	12	0	108	521
MFSD7	84179	broad.mit.edu	37	4	676148	676148	+	Missense_Mutation	SNP	C	C	T	rs200436837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000404286.2	-	10	1297	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	428					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13888	0.001		0.0	False		,,,				2504	0.0					ENST00000404286.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				11						c.(1282-1284)Gcc>Acc		major facilitator superfamily domain containing 7							10.0	12.0	11.0					4																	676148		2033	4033	6066	SO:0001583	missense	84179	0	0					g.chr4:676148C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1282G>A	chr4.hg19:g.676148C>T	ENSP00000384616:p.Ala428Thr	0					MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000503156.1_Intron	p.A428T	NM_032219.2	NP_115595.2	1	2	3	1.998139	Q6UXD7	MFSD7_HUMAN		10	1297	-			A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	1	1	hg19	c.1282G>A		1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	21.0	4.078096	0.76528	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.26	4.26	0.50523	4.26	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.061492	0.64402	D	0.000005	T	0.72542	0.3473	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.60575	0.988;0.988;0.454;0.976	P;P;B;P	0.61477	0.889;0.889;0.342;0.793	T	0.70260	-0.4921	10	0.28530	T	0.3	-16.8238	12.4069	0.55445	0.0:1.0:0.0:0.0	.	331;309;428;427	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	T	309;427;428;331	ENSP00000307545:A309T;ENSP00000320234:A427T;ENSP00000384616:A428T;ENSP00000423204:A331T	ENSP00000320234:A427T	A	-	1	0	0	MFSD7	666148	666148	1.000000	0.71417	0.994000	0.49952	0.315000	0.28087	2.147000	0.42226	2.394000	0.81467	0.585000	0.79938	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_032219			19	18		83	81	1		1	0		0	0	20	0		9.999938e-01	9.984150e-01	0	0	0	50	0	19	83
MFSD7	84179	broad.mit.edu	37	4	676654	676654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000404286.2	-	9	1195	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MFSD7_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000322224.4_Silent_p.L393L|MFSD7_ENST00000515118.1_Silent_p.L297L	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	394					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642																																						ENST00000404286.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										0				11						c.(1180-1182)Ctg>Ttg		major facilitator superfamily domain containing 7							81.0	67.0	72.0					4																	676654		2198	4299	6497	SO:0001819	synonymous_variant	84179	0	0					g.chr4:676654G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1180C>T	chr4.hg19:g.676654G>A		0					MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000322224.4_Silent_p.L393L|MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000503156.1_Silent_p.L329L	p.L394L	NM_032219.2	NP_115595.2	1	2	3	1.998139	Q6UXD7	MFSD7_HUMAN		9	1195	-			A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	1	1	hg19	c.1180C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_032219			19	18		73	73	1		1	1		0	0	19	0		9.999954e-01	9.999114e-01	0	11	0	55	0	19	73
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	C	T	rs377418158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S1072S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S1151S(1)	large_intestine(1)	39						c.(3451-3453)tcG>tcA		cyclin G associated kinase		C		0,4406		0,0,2203	40.0	45.0	43.0		3453	-9.7	0.0	4		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GAK	NM_005255.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1151/1312	845593	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2580	4	121406	36				g.chr4:845593C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3453G>A	chr4.hg19:g.845593C>T		0					GAK_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	p.S1151S	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		25	3563	-			Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	1	1	hg19	c.3453G>A	CCDS3340.1	1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	0	GAK	835593	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.344839	1	0.170000	NM_005255			78	75		380	376	1		1	1		0	0	70	0		1	1	0	56	0	112	0	78	380
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3328-3330)gCc>gTc		cyclin G associated kinase							50.0	58.0	56.0					4																	845717		2203	4300	6503	SO:0001583	missense	2580	0	0					g.chr4:845717G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3329C>T	chr4.hg19:g.845717G>A	ENSP00000314499:p.Ala1110Val	0					GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	p.A1110V	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		25	3439	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.3329C>T	CCDS3340.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	0|0	GAK|GAK	835717|835717	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_005255			43	43		177	172	1		1	1		0	0	30	0		1	1	0	66	0	121	0	43	177
GAK	2580	broad.mit.edu	37	4	860197	860197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.H921Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1000					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(2998-3000)Cac>Tac		cyclin G associated kinase							80.0	76.0	78.0					4																	860197		2203	4300	6503	SO:0001583	missense	2580	0	0					g.chr4:860197G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2998C>T	chr4.hg19:g.860197G>A	ENSP00000314499:p.His1000Tyr	0					GAK_ENST00000511163.1_Missense_Mutation_p.H921Y|GAK_ENST00000509566.1_5'UTR	p.H1000Y	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		22	3108	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.2998C>T	CCDS3340.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.229|3.229	-0.157847|-0.157847	0.06544|0.06544	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78126|.	-0.7;-1.15|.	5.24|5.24	4.38|4.38	0.52667|0.52667	5.24|5.24	4.38|4.38	0.52667|0.52667	.|.	0.243165|.	0.40908|.	D|.	0.000991|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.60455|0.60455	1.87|1.87	0.38800|0.38800	D|D	0.955176|0.955176	B;P;B;B|.	0.40578|.	0.262;0.722;0.161;0.263|.	B;B;B;B|.	0.33454|.	0.147;0.164;0.104;0.067|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.49607|.	T|.	0.09|.	-30.6063|-30.6063	12.7363|12.7363	0.57225|0.57225	0.0:0.0:0.8341:0.1659|0.0:0.0:0.8341:0.1659	.|.	902;921;1000;885|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	Y|L	276;1000;921|119	ENSP00000314499:H1000Y;ENSP00000421361:H921Y|.	ENSP00000314499:H1000Y|.	H|P	-|-	1|2	0|0	0|0	GAK|GAK	850197|850197	850197|850197	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.033000|0.033000	0.12548|0.12548	3.085000|3.085000	0.50151|0.50151	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CAC|CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.087633	1	0.170000	NM_005255			50	50		269	264	1		1	1		0	0	46	0		1	1	0	53	0	149	0	50	269
GAK	2580	broad.mit.edu	37	4	871406	871406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	618	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				39						c.(1852-1854)aTg>aCg		cyclin G associated kinase							47.0	43.0	45.0					4																	871406		2202	4299	6501	SO:0001583	missense	2580	0	0					g.chr4:871406A>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1853T>C	chr4.hg19:g.871406A>G	ENSP00000314499:p.Met618Thr	0					GAK_ENST00000511163.1_Missense_Mutation_p.M539T	p.M618T	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		16	1963	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.1853T>C	CCDS3340.1	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192949	0.78902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84800	-1.9;-1.9	5.71	5.71	0.89125	5.71	5.71	0.89125	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.70487	0.938;0.92;0.969;0.969	D	0.92856	0.6301	10	0.72032	D	0.01	.	13.9333	0.64010	1.0:0.0:0.0:0.0	.	539;539;618;514	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	618;539	ENSP00000314499:M618T;ENSP00000421361:M539T	ENSP00000314499:M618T	M	-	2	0	0	GAK	861406	861406	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	8.619000	0.90938	2.178000	0.69098	0.533000	0.62120	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_005255			47	46		246	240	1		1	1		0	0	47	0		1	1	0	80	0	159	0	47	246
GAK	2580	broad.mit.edu	37	4	877192	877192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	439	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1315-1317)Cgg>Tgg		cyclin G associated kinase							203.0	170.0	181.0					4																	877192		2203	4300	6503	SO:0001583	missense	2580	4	121412	38				g.chr4:877192G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1315C>T	chr4.hg19:g.877192G>A	ENSP00000314499:p.Arg439Trp	0					GAK_ENST00000511163.1_Missense_Mutation_p.R360W	p.R439W	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		13	1425	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.1315C>T	CCDS3340.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029078	0.54790	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98567	-5.0;-5.0	5.34	4.48	0.54585	5.34	4.48	0.54585	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	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	0.85130	0.997;0.968;0.997;0.995	D	0.99548	1.0965	10	0.87932	D	0	-36.7377	12.9889	0.58608	0.0:0.0:0.8372:0.1628	.	360;360;439;335	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	439;360	ENSP00000314499:R439W;ENSP00000421361:R360W	ENSP00000314499:R439W	R	-	1	2	2	GAK	867192	867192	1.000000	0.71417	0.451000	0.26982	0.012000	0.07955	3.165000	0.50778	1.208000	0.43306	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.222247	1	0.170000	NM_005255			90	88		511	505	1		1	1		0	0	123	0		1	1	0	39	0	119	0	90	511
GAK	2580	broad.mit.edu	37	4	887739	887739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612																																						ENST00000314167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(799-801)gCg>gTg		cyclin G associated kinase							98.0	66.0	77.0					4																	887739		2202	4297	6499	SO:0001583	missense	2580	1	121244	26				g.chr4:887739G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.800C>T	chr4.hg19:g.887739G>A	ENSP00000314499:p.Ala267Val	0					GAK_ENST00000511163.1_Missense_Mutation_p.A188V	p.A267V	NM_005255.2	NP_005246.2	1	2	3	1.998139	O14976	GAK_HUMAN		8	910	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.800C>T	CCDS3340.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.772525	0.96922	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.66280	-0.2;-0.2	4.95	4.95	0.65309	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050221	0.85682	D	0.000000	T	0.69833	0.3155	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-19.8381	15.7059	0.77580	0.0:0.0:1.0:0.0	.	188;188;267;163	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	V	267;188	ENSP00000314499:A267V;ENSP00000421361:A188V	ENSP00000314499:A267V	A	-	2	0	0	GAK	877739	877739	1.000000	0.71417	0.762000	0.31397	0.971000	0.66376	6.812000	0.75226	2.291000	0.77112	0.563000	0.77884	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_005255			52	53		127	126	1		1	1		0	0	23	0		1	1	0	19	0	95	0	52	127
TMEM175	84286	broad.mit.edu	37	4	944245	944245	+	Missense_Mutation	SNP	C	C	T	rs199536272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577																																						ENST00000264771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(229-231)Cgg>Tgg		transmembrane protein 175							133.0	116.0	122.0					4																	944245		2203	4300	6503	SO:0001583	missense	84286	3	121412	37				g.chr4:944245C>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.229C>T	chr4.hg19:g.944245C>T	ENSP00000264771:p.Arg77Trp	0					TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR	p.R77W	NM_032326.2	NP_115702.1	1	2	3	1.998139	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	4	414	+			D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	1	1	hg19	c.229C>T	CCDS3341.1	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381533	0.42207	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	3.72	0.42706	4.9	3.72	0.42706	.	0.133487	0.48767	D	0.000179	T	0.47488	0.1448	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.45381	-0.9265	10	0.87932	D	0	-9.1519	8.6409	0.33976	0.7942:0.2058:0.0:0.0	.	77	Q9BSA9	TM175_HUMAN	W	76;77;64;77	ENSP00000424746:R76W;ENSP00000264771:R77W;ENSP00000425181:R64W;ENSP00000425763:R77W	ENSP00000264771:R77W	R	+	1	2	2	TMEM175	934245	934245	1.000000	0.71417	0.411000	0.26484	0.002000	0.02628	6.164000	0.71885	0.740000	0.32651	-0.424000	0.05967	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.151536	1	0.170000	NM_032326			101	98		424	414	1		1	1		0	0	104	0		1	9.995695e-01	0	8	0	42	0	101	424
TMEM175	84286	broad.mit.edu	37	4	947071	947071	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	186						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647																																						ENST00000264771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(556-558)Ctg>Atg		transmembrane protein 175							130.0	108.0	115.0					4																	947071		2203	4300	6503	SO:0001583	missense	84286	0	0					g.chr4:947071C>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.556C>A	chr4.hg19:g.947071C>A	ENSP00000264771:p.Leu186Met	0					TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M	p.L186M	NM_032326.2	NP_115702.1	1	2	3	1.998139	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	8	741	+			D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	1	1	hg19	c.556C>A	CCDS3341.1	1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.323824	0.41096	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.56275	1.16;0.47;0.79;0.54	4.93	3.94	0.45596	4.93	3.94	0.45596	.	0.000000	0.64402	D	0.000010	T	0.63010	0.2475	M	0.65498	2.005	0.42111	D	0.991389	D;D;D	0.76494	0.991;0.983;0.999	P;P;D	0.67231	0.863;0.863;0.95	T	0.64791	-0.6324	10	0.52906	T	0.07	-0.6814	5.3876	0.16226	0.0:0.8163:0.0:0.1837	.	104;186;104	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	M	186;173;104;104;92;70;104;104	ENSP00000264771:L186M;ENSP00000425181:L173M;ENSP00000427039:L70M;ENSP00000423669:L104M	ENSP00000264771:L186M	L	+	1	2	2	TMEM175	937071	937071	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	1.546000	0.36179	2.273000	0.75805	0.574000	0.79327	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_032326			56	56		222	221	1		1	1		0	0	42	0		1	9.999994e-01	0	21	0	67	0	56	222
TMEM175	84286	broad.mit.edu	37	4	952124	952124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	452						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697																																						ENST00000264771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1354-1356)cAg>cGg		transmembrane protein 175							54.0	52.0	52.0					4																	952124		2203	4300	6503	SO:0001583	missense	84286	0	0					g.chr4:952124A>G	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1355A>G	chr4.hg19:g.952124A>G	ENSP00000264771:p.Gln452Arg	0					TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R|TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R	p.Q452R	NM_032326.2	NP_115702.1	1	2	3	1.998139	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	11	1540	+			D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	1	1	hg19	c.1355A>G	CCDS3341.1	1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292900	0.40594	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.48522	1.43;1.4;0.81	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.069000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.66939	2.045	0.35427	D	0.793693	P;D	0.53151	0.919;0.958	B;P	0.47528	0.395;0.549	T	0.58618	-0.7605	10	0.17832	T	0.49	-4.8199	11.1651	0.48539	1.0:0.0:0.0:0.0	.	370;452	D3DVN5;Q9BSA9	.;TM175_HUMAN	R	452;336;370	ENSP00000264771:Q452R;ENSP00000427039:Q336R;ENSP00000423669:Q370R	ENSP00000264771:Q452R	Q	+	2	0	0	TMEM175	942124	942124	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.677000	0.74503	1.897000	0.54924	0.402000	0.26972	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_032326			58	57		268	264	1		1	1		0	0	43	0		1	9.983091e-01	0	11	0	36	0	58	268
DGKQ	1609	broad.mit.edu	37	4	956377	956377	+	Missense_Mutation	SNP	C	C	T	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	687	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(2059-2061)cGc>cAc		diacylglycerol kinase, theta 110kDa		C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	41.0	40.0	40.0		2060	4.9	1.0	4	dbSNP_134	40	0,8598		0,0,4299	no	missense	DGKQ	NM_001347.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	687/943	956377	1,12995	2199	4299	6498	SO:0001583	missense	1609	2	121172	30				g.chr4:956377C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2060G>A	chr4.hg19:g.956377C>T	ENSP00000273814:p.Arg687His	0					DGKQ_ENST00000502309.1_5'Flank	p.R687H	NM_001347.3	NP_001338.2	1	2	3	1.998139	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	18	2133	-			Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	1	1	hg19	c.2060G>A	CCDS3342.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519485|5.519485	0.96416|0.96416	2.27E-4|2.27E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.42131	.|0.98	4.9|4.9	4.9|4.9	0.64082|0.64082	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62183|0.62183	0.2407|0.2407	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.65105|0.65105	-0.6249|-0.6249	5|10	.|0.66056	.|D	.|0.02	.|.	15.9132|15.9132	0.79488|0.79488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|687;687	.|E9KL49;P52824	.|.;DGKQ_HUMAN	T|H	621|687	.|ENSP00000273814:R687H	.|ENSP00000273814:R687H	A|R	-|-	1|2	0|0	0|0	DGKQ|DGKQ	946377|946377	946377|946377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.367000|7.367000	0.79558|0.79558	2.395000|2.395000	0.81488|0.81488	0.655000|0.655000	0.94253|0.94253	GCT|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000				45	44		208	207	1		1	1		0	0	40	0		1	9.952357e-01	0	8	0	33	0	45	208
DGKQ	1609	broad.mit.edu	37	4	962266	962266	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1		DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999881	0.990000	1.000000																										0				9						c.e4+1		diacylglycerol kinase, theta 110kDa							16.0	18.0	17.0					4																	962266		2182	4285	6467	SO:0001630	splice_region_variant	1609	2	120084	27				g.chr4:962266C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.537+1G>A	chr4.hg19:g.962266C>T		0					DGKQ_ENST00000502309.1_5'Flank		NM_001347.3	NP_001338.2	1	2	3	1.998139	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	4	611	-			Q6P3W4	Splice_Site	SNP	ENST00000273814.3	1	1	hg19		CCDS3342.1	1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047660	0.36085	.	.	ENSG00000145214	ENST00000273814;ENST00000509465;ENST00000510286	.	.	.	4.54	4.54	0.55810	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7929	0.69857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DGKQ	952266	952266	1.000000	0.71417	0.854000	0.33618	0.061000	0.15899	5.246000	0.65411	2.052000	0.61016	0.556000	0.70494	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000		Intron		14	14		46	45	0		1	0		0	0	19	0		9.998594e-01	0	0	1	0	0	0	14	46
IDUA	3425	broad.mit.edu	37	4	995495	995495	+	Silent	SNP	G	G	A	rs377312287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000247933.4	+	6	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_ENST00000453894.1_Silent_p.S159S|IDUA_ENST00000514224.1_Silent_p.S74S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	206					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGCCTGCTCGGAGGGTCTGC	0.716																																						ENST00000247933.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(616-618)tcG>tcA		iduronidase, alpha-L-		G		0,4382		0,0,2191	12.0	14.0	13.0		618	-10.0	0.7	4		13	1,8559		0,1,4279	no	coding-synonymous	IDUA	NM_000203.3		0,1,6470	AA,AG,GG		0.0117,0.0,0.0077		206/654	995495	1,12941	2191	4280	6471	SO:0001819	synonymous_variant	3425	5	120298	32				g.chr4:995495G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.618G>A	chr4.hg19:g.995495G>A		0					IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000453894.1_Silent_p.S159S	p.S206S	NM_000203.3	NP_000194.2	1	2	3	1.998139	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)	6	706	+			B3KWK6	Silent	SNP	ENST00000247933.4	1	1	hg19	c.618G>A	CCDS3343.1	1	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382540	0.11524	0.0	1.17E-4	ENSG00000127415	ENST00000504568	.	.	.	5.05	-9.97	0.00440	5.05	-9.97	0.00440	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-18.6917	2.4043	0.04409	0.1133:0.2242:0.3235:0.3391	.	.	.	.	Q	193	.	.	R	+	2	0	0	IDUA	985495	985495	0.000000	0.05858	0.727000	0.30756	0.515000	0.34225	-3.415000	0.00479	-1.651000	0.01504	-2.577000	0.00169	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	1	0	1		21	2	2	0		0	1	16		16	13	1	2.060000	-20.000000	1	0.170000	NM_000203			28	28		89	87	1		1	1		0	0	16	0		8.820639e-01	8.161222e-01	0	3	0	9	0	28	89
WHSC1	7468	broad.mit.edu	37	4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000382895.3	+	6	1278	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A283T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	283	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)			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)		GAGCCTCGTAGCTTTTGAAGG	0.433			T	IGH@	MM																																	ENST00000382895.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4p16.3	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)				L	L	IGH@		MM		0				48						c.(847-849)Gct>Act		Wolf-Hirschhorn syndrome candidate 1							77.0	80.0	79.0					4																	1918684		2203	4300	6503	SO:0001583	missense	7468	0	0					g.chr4:1918684G>A	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.847G>A	chr4.hg19:g.1918684G>A	ENSP00000372351:p.Ala283Thr	0					WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T	p.A283T	NM_133330.2	NP_579877.1	1	2	3	1.998139	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	6	1278	+		all_epithelial(65;1.34e-05)	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	1	1	hg19	c.847G>A	CCDS33940.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586572	0.28268	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.25	3.39	0.38822	5.25	3.39	0.38822	PWWP (3);	0.335476	0.25768	N	0.028439	T	0.39517	0.1081	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.10450	0.005;0.003;0.005;0.004	T	0.17930	-1.0353	10	0.25751	T	0.34	.	3.9283	0.09273	0.0897:0.2814:0.4923:0.1366	.	283;283;283;283	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	283	ENSP00000423972:A283T;ENSP00000421681:A283T;ENSP00000372347:A283T;ENSP00000372348:A283T;ENSP00000399251:A283T;ENSP00000372351:A283T;ENSP00000425761:A283T;ENSP00000422878:A283T;ENSP00000381311:A283T	ENSP00000308780:A283T	A	+	1	0	0	WHSC1	1888482	1888482	0.952000	0.32445	0.996000	0.52242	0.998000	0.95712	1.515000	0.35845	1.445000	0.47624	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_133330			64	64		231	226	1		1	1		0	0	56	0		1	9.999993e-01	0	32	0	47	0	64	231
NAT8L	339983	broad.mit.edu	37	4	2062757	2062757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	ENST00000423729.2	+	2	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	137					metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTCGCTGCTGCTGACGTGCCT	0.746																																						ENST00000423729.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999766	0.990000	1.000000																										0				2						c.(409-411)Ctg>Ttg		N-acetyltransferase 8-like (GCN5-related, putative)							12.0	16.0	15.0					4																	2062757		684	1579	2263	SO:0001819	synonymous_variant	339983	0	0					g.chr4:2062757C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.409C>T	chr4.hg19:g.2062757C>T		0					NAT8L_ENST00000331662.3_5'UTR	p.L137L	NM_178557.3	NP_848652.2	1	2	3	1.998139	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)	2	409	+				Silent	SNP	ENST00000423729.2	0	1	hg19	c.409C>T	CCDS3359.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_178557			13	13		45	45	0		1	0		0	0	13	0		9.997431e-01	0	0	0	0	1	0	13	45
NAT8L	339983	broad.mit.edu	37	4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000423729.2	+	3	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	255	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662																																						ENST00000423729.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				2						c.(763-765)Gcc>Acc		N-acetyltransferase 8-like (GCN5-related, putative)							40.0	37.0	38.0					4																	2065708		2197	4298	6495	SO:0001583	missense	339983	0	0					g.chr4:2065708G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.763G>A	chr4.hg19:g.2065708G>A	ENSP00000413064:p.Ala255Thr	0					NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	p.A255T	NM_178557.3	NP_848652.2	1	2	3	1.998139	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)	3	763	+				Missense_Mutation	SNP	ENST00000423729.2	1	1	hg19	c.763G>A	CCDS3359.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.880837	0.97062	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.37235	1.21;1.21	5.31	5.31	0.75309	5.31	5.31	0.75309	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.68796	0.3040	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76323	-0.3001	10	0.87932	D	0	-0.0397	18.5588	0.91093	0.0:0.0:1.0:0.0	.	255	Q8N9F0	NAT8L_HUMAN	T	255;87	ENSP00000413064:A255T;ENSP00000328464:A87T	ENSP00000328464:A87T	A	+	1	0	0	NAT8L	2035506	2035506	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.634000	0.98435	2.484000	0.83849	0.457000	0.33378	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_178557			29	29		140	137	0		1	0		0	0	34	0		1	8.316176e-02	0	0	0	3	0	29	140
POLN	353497	broad.mit.edu	37	4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	603					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)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388								DNA polymerases (catalytic subunits)																														ENST00000511885.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				28						c.(1807-1809)Ctc>Ttc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							141.0	127.0	132.0					4																	2130966		2203	4300	6503	SO:0001583	missense	353497	0	0					g.chr4:2130966G>A	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.1807C>T	chr4.hg19:g.2130966G>A	ENSP00000435506:p.Leu603Phe	0					POLN_ENST00000382865.1_Missense_Mutation_p.L603F	p.L603F			1	2	3	1.998139	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)	18	2160	-			A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	1	1	hg19	c.1807C>T	CCDS3360.1	1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475118	0.26511	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96885	-4.16;-4.16	4.54	-0.924	0.10462	4.54	-0.924	0.10462	DNA-directed DNA polymerase, family A, palm domain (1);	1.011150	0.07936	N	0.978426	D	0.95446	0.8521	L	0.42686	1.345	0.09310	N	1	D;D;D	0.64830	0.975;0.973;0.994	P;P;D	0.63703	0.702;0.789;0.917	D	0.87240	0.2266	10	0.87932	D	0	-0.0173	1.3165	0.02108	0.2091:0.3282:0.3064:0.1563	.	134;294;603	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	F	603;603;294;134	ENSP00000435506:L603F;ENSP00000372316:L603F	ENSP00000253313:L294F	L	-	1	0	0	POLN	2100764	2100764	0.023000	0.18921	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	0.098000	0.17522	0.555000	0.69702	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	1	0	1		16	2	2	0		0	1	50		50	50	1	2.060000	-3.236728	1	0.170000	NM_181808			38	36		210	206	1		1	0		0	0	50	0		9.994256e-01	2.486056e-02	0	0	0	2	0	38	210
HAUS3	79441	broad.mit.edu	37	4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	153					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)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353																																						ENST00000243706.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999909	0.990000	1.000000																										0				22						c.(457-459)gGa>gAa		HAUS augmin-like complex, subunit 3							127.0	124.0	125.0					4																	2242216		2203	4300	6503	SO:0001583	missense	79441	0	0					g.chr4:2242216C>T	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.458G>A	chr4.hg19:g.2242216C>T	ENSP00000243706:p.Gly153Glu	0					HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E	p.G153E	NM_024511.5	NP_078787.2	1	2	3	1.998139	Q68CZ6	HAUS3_HUMAN		2	687	-			B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	1	1	hg19	c.458G>A	CCDS33941.1	1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020179	0.19433	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.29	2.27	0.28462	5.29	2.27	0.28462	.	0.300119	0.28683	U	0.014487	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19946	0.027;0.01	T	0.29088	-1.0023	10	0.02654	T	1	-47.7984	6.0954	0.20017	0.0:0.5297:0.29:0.1803	.	153;153	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	153	ENSP00000243706:G153E;ENSP00000392903:G153E	ENSP00000243706:G153E	G	-	2	0	0	HAUS3	2212014	2212014	0.000000	0.05858	0.528000	0.27938	0.982000	0.71751	0.596000	0.24044	0.640000	0.30582	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_024511			43	43		283	278	1		1	1		0	0	81	0		1	9.914294e-01	0	10	0	41	0	43	283
MXD4	10608	broad.mit.edu	37	4	2252274	2252274	+	Silent	SNP	C	C	T	rs374721019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2252274C>T	ENST00000337190.2	-	6	940	c.627G>A	c.(625-627)tcG>tcA	p.S209S	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	209					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACGGGCCTACGAGAGGGCGG	0.716																																						ENST00000337190.2	1.000000	0.650000	1	9.400000e-01	0.990000	0.965835	0.990000	1.000000																										0				6						c.(625-627)tcG>tcA		MAX dimerization protein 4		C		0,4292		0,0,2146	8.0	9.0	9.0		627	3.1	1.0	4		9	2,8298		0,2,4148	no	coding-synonymous	MXD4	NM_006454.2		0,2,6294	TT,TC,CC		0.0241,0.0,0.0159		209/210	2252274	2,12590	2146	4150	6296	SO:0001819	synonymous_variant	10608	5	118336	29				g.chr4:2252274C>T		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.627G>A	chr4.hg19:g.2252274C>T		0					MIR4800_ENST00000537353.2_RNA	p.S209S	NM_006454.2	NP_006445.1	1	2	3	1.998139	Q14582	MAD4_HUMAN		6	940	-			A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	0	1	hg19	c.627G>A	CCDS3361.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-17.943470	1	0.170000	NM_006454			8	8		63	62	0		1	1		0	0	13	0		9.902230e-01	9.070243e-01	0	18	0	18	0	8	63
MXD4	10608	broad.mit.edu	37	4	2263663	2263663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	15	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801																																						ENST00000337190.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999177	0.990000	1.000000																										0				6						c.(43-45)taC>taT		MAX dimerization protein 4							5.0	6.0	6.0					4																	2263663		1657	3206	4863	SO:0001819	synonymous_variant	10608	0	0					g.chr4:2263663G>A		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.45C>T	chr4.hg19:g.2263663G>A		0					MXD4_ENST00000515378.1_5'UTR	p.Y15Y	NM_006454.2	NP_006445.1	1	2	3	1.998139	Q14582	MAD4_HUMAN		1	358	-			A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	1	1	hg19	c.45C>T	CCDS3361.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.994960	1	0.170000	NM_006454			11	11		42	42	0		1	1		0	0	12	0		9.989352e-01	9.999998e-01	0	44	0	119	0	11	42
RNF4	6047	broad.mit.edu	37	4	2502385	2502385	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511600.1	+	4	1639		c.e4-1		RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000509258.1_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway (GO:0030521)|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 autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTCTTTTGAAGCTGGAGATGA	0.398																																						ENST00000511600.1	1.000000	0.370000	1	5.200000e-01	0.720000	0.733221	0.720000	1.000000																										0				5						c.e4-1		ring finger protein 4							186.0	164.0	171.0					4																	2502385		1886	4135	6021	SO:0001630	splice_region_variant	6047	0	0					g.chr4:2502385G>A	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.125-1G>A	chr4.hg19:g.2502385G>A		0					RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site|RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site				1	2	3	1.998139	P78317	RNF4_HUMAN		4	1639	+		all_epithelial(65;0.241)	B2R6D6|D6RF58|Q49AR8	Splice_Site	SNP	ENST00000511600.1	1	1	hg19		CCDS47001.1	0	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855263	0.71719	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RNF4	2472183	2472183	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.512000	0.67030	2.676000	0.91093	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-4.957703	1	0.170000	NM_002938	Intron		10	10		161	161	0		1			0	0	32	0		9.971490e-01	0	0	0	0	0	0	10	161
TNIP2	79155	broad.mit.edu	37	4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000315423.7	-	3	707	c.621G>T	c.(619-621)caG>caT	p.Q207H	TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H|TNIP2_ENST00000510267.1_Missense_Mutation_p.Q100H|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448																																						ENST00000315423.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				14						c.(619-621)caG>caT		TNFAIP3 interacting protein 2							143.0	123.0	129.0					4																	2747209		2203	4300	6503	SO:0001583	missense	79155	0	0					g.chr4:2747209C>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.621G>T	chr4.hg19:g.2747209C>A	ENSP00000321203:p.Gln207His	0					TNIP2_ENST00000510267.1_Missense_Mutation_p.Q100H|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	p.Q207H	NM_024309.3	NP_077285.3	1	2	3	1.998139				3	707	-				Missense_Mutation	SNP	ENST00000315423.7	1	1	hg19	c.621G>T	CCDS3362.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927050	0.34002	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.57752	0.4;0.38;0.93	5.07	3.3	0.37823	5.07	3.3	0.37823	.	0.519194	0.20701	N	0.087269	T	0.64627	0.2615	M	0.68593	2.085	0.31082	N	0.7118	D;P	0.76494	0.999;0.8	D;B	0.69654	0.965;0.259	T	0.65697	-0.6105	10	0.72032	D	0.01	-11.7897	6.4389	0.21839	0.0:0.6687:0.1531:0.1782	.	207;207	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	H	100;207;207	ENSP00000427613:Q100H;ENSP00000321203:Q207H;ENSP00000426314:Q207H	ENSP00000321203:Q207H	Q	-	3	2	2	TNIP2	2717007	2717007	1.000000	0.71417	0.176000	0.23000	0.011000	0.07611	3.557000	0.53741	0.511000	0.28236	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_024309			25	25		131	129	1		1	1		0	0	21	0		9.999999e-01	1	0	76	0	159	0	25	131
NOP14	8602	broad.mit.edu	37	4	2964855	2964855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000314262.6	-	1	240	c.192G>A	c.(190-192)agG>agA	p.R64R	GRK4_ENST00000398052.4_5'Flank|NOP14_ENST00000398071.4_Silent_p.R64R|GRK4_ENST00000345167.6_5'Flank|NOP14_ENST00000416614.2_Silent_p.R64R|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Silent_p.R64R|GRK4_ENST00000398051.4_5'Flank|GRK4_ENST00000442472.2_5'Flank|GRK4_ENST00000503518.2_5'Flank|GRK4_ENST00000504933.1_5'Flank	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	64					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)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672																																						ENST00000314262.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(190-192)agG>agA		NOP14 nucleolar protein							42.0	48.0	46.0					4																	2964855		2202	4299	6501	SO:0001819	synonymous_variant	8602	0	0					g.chr4:2964855C>T	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.192G>A	chr4.hg19:g.2964855C>T		0					GRK4_ENST00000504933.1_5'Flank|GRK4_ENST00000442472.2_5'Flank|NOP14_ENST00000416614.2_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R|GRK4_ENST00000345167.6_5'Flank|GRK4_ENST00000398052.4_5'Flank|GRK4_ENST00000398051.4_5'Flank|NOP14_ENST00000502735.1_Silent_p.R64R|GRK4_ENST00000503518.2_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	p.R64R	NM_003703.1	NP_003694.1	1	2	3	1.998139	P78316	NOP14_HUMAN		1	240	-			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	1	1	hg19	c.192G>A	CCDS33945.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	1	0	1		2	2	2	0		0	0	56		56	53	1	2.060000	-20.000000	1	0.170000	NM_003703			76	74		289	283	0		1	1		0	0	56	0		1	9.999839e-01	0	15	0	49	0	76	289
HTT	3064	broad.mit.edu	37	4	3133503	3133503	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			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)		GAATACCCTGGTATGTTAAAA	0.403																																						ENST00000355072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.e16+1		huntingtin							75.0	72.0	73.0					4																	3133503		1851	4099	5950	SO:0001630	splice_region_variant	3064	0	0					g.chr4:3133503G>A	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.2236+1G>A	chr4.hg19:g.3133503G>A		0							NM_002111.6	NP_002102	1	2	3	1.998139	P42858	HD_HUMAN		16	2381	+		all_epithelial(65;0.18)	Q9UQB7	Splice_Site	SNP	ENST00000355072.5	1	1	hg19		CCDS43206.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734557	0.30774	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.98	4.14	0.48551	4.98	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2134	0.59839	0.0767:0.0:0.9233:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	HTT	3103301	3103301	1.000000	0.71417	0.841000	0.33234	0.231000	0.25187	7.012000	0.76366	1.331000	0.45412	0.591000	0.81541	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_002111	Intron		87	87		380	372	1		1			0	0	64	0		1	0	0	0	0	0	0	87	380
HTT	3064	broad.mit.edu	37	4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	980					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)			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)		CGTCAGCACAATAACCAGGTA	0.443																																						ENST00000355072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(2938-2940)Ata>Cta		huntingtin							89.0	89.0	89.0					4																	3142376		2108	4240	6348	SO:0001583	missense	3064	0	0					g.chr4:3142376A>C	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.2938A>C	chr4.hg19:g.3142376A>C	ENSP00000347184:p.Ile980Leu	0						p.I980L	NM_002111.6	NP_002102	1	2	3	1.998139	P42858	HD_HUMAN		22	3083	+		all_epithelial(65;0.18)	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	1	1	hg19	c.2938A>C	CCDS43206.1	1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612991	0.28712	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.97	1.25	0.21368	4.97	1.25	0.21368	Armadillo-type fold (1);	0.047013	0.85682	D	0.000000	T	0.47728	0.1461	L	0.38175	1.15	0.46078	D	0.998853	B	0.21225	0.053	B	0.20184	0.028	T	0.35500	-0.9786	10	0.42905	T	0.14	.	9.0413	0.36319	0.8028:0.0:0.1972:0.0	.	980	P42858	HD_HUMAN	L	980	ENSP00000347184:I980L	ENSP00000347184:I980L	I	+	1	0	0	HTT	3112174	3112174	0.985000	0.35326	0.569000	0.28460	0.964000	0.63967	2.603000	0.46266	0.337000	0.23665	0.533000	0.62120	ATA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_002111			44	43		202	201	1		1	1		0	0	55	0		1	9.984351e-01	0	10	0	38	0	44	202
HTT	3064	broad.mit.edu	37	4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1017					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)			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)		AATCACATCAACCACCAGAGC	0.383																																						ENST00000355072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(3049-3051)Acc>Gcc		huntingtin							174.0	163.0	166.0					4																	3144596		1930	4140	6070	SO:0001583	missense	3064	0	0					g.chr4:3144596A>G	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.3049A>G	chr4.hg19:g.3144596A>G	ENSP00000347184:p.Thr1017Ala	0						p.T1017A	NM_002111.6	NP_002102	1	2	3	1.998139	P42858	HD_HUMAN		23	3194	+		all_epithelial(65;0.18)	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	1	1	hg19	c.3049A>G	CCDS43206.1	1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042956	0.55003	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	5.24	5.24	0.73138	5.24	5.24	0.73138	Armadillo-type fold (1);	0.051878	0.85682	D	0.000000	T	0.09158	0.0226	M	0.62723	1.935	0.50813	D	0.999893	P	0.39940	0.696	B	0.37601	0.254	T	0.02581	-1.1138	10	0.72032	D	0.01	.	10.9659	0.47412	0.8601:0.0:0.0:0.1399	.	1017	P42858	HD_HUMAN	A	1017	ENSP00000347184:T1017A	ENSP00000347184:T1017A	T	+	1	0	0	HTT	3114394	3114394	1.000000	0.71417	0.829000	0.32907	0.989000	0.77384	5.669000	0.68081	1.977000	0.57605	0.528000	0.53228	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000	NM_002111			100	97		494	479	1		1	1		0	0	107	0		1	9.836468e-01	0	8	0	26	0	100	494
HTT	3064	broad.mit.edu	37	4	3146887	3146887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1025					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)			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)		AGTTTGGATGCTGTGAAGCTT	0.353																																						ENST00000355072.5	1.000000	0.790000	1	9.100000e-01	0.990000	0.971092	0.990000	1.000000																										0				87						c.(3073-3075)tgC>tgT		huntingtin							337.0	307.0	316.0					4																	3146887		1897	4118	6015	SO:0001819	synonymous_variant	3064	0	0					g.chr4:3146887C>T	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.3075C>T	chr4.hg19:g.3146887C>T		0						p.C1025C	NM_002111.6	NP_002102	1	2	3	1.998139	P42858	HD_HUMAN		24	3220	+		all_epithelial(65;0.18)	Q9UQB7	Silent	SNP	ENST00000355072.5	1	1	hg19	c.3075C>T	CCDS43206.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-14.632440	1	0.170000	NM_002111			53	52		546	537	0		1	1		0	0	91	0		1	8.685488e-01	0	6	0	33	0	53	546
HTT	3064	broad.mit.edu	37	4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3047					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)			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)		ACGCAGAGGGCCCCGGTCGCC	0.642																																						ENST00000355072.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(9139-9141)gCc>gTc		huntingtin							27.0	31.0	29.0					4																	3240630		2122	4213	6335	SO:0001583	missense	3064	0	0					g.chr4:3240630C>T	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.9140C>T	chr4.hg19:g.3240630C>T	ENSP00000347184:p.Ala3047Val	0						p.A3047V	NM_002111.6	NP_002102	1	2	3	1.998139	P42858	HD_HUMAN		66	9285	+		all_epithelial(65;0.18)	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	1	1	hg19	c.9140C>T	CCDS43206.1	1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340021	0.60963	.	.	ENSG00000197386	ENST00000355072	T	0.68025	-0.3	5.13	2.22	0.28083	5.13	2.22	0.28083	.	0.286284	0.38548	N	0.001646	T	0.46639	0.1403	N	0.08118	0	0.19575	N	0.999967	B	0.18013	0.025	B	0.21151	0.033	T	0.38714	-0.9648	10	0.40728	T	0.16	.	15.0088	0.71533	0.0:0.594:0.406:0.0	.	3047	P42858	HD_HUMAN	V	3047	ENSP00000347184:A3047V	ENSP00000347184:A3047V	A	+	2	0	0	HTT	3210428	3210428	0.999000	0.42202	0.018000	0.16275	0.696000	0.40369	4.057000	0.57455	0.523000	0.28482	0.557000	0.71058	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_002111			31	30		97	94	1		1	1		0	0	15	0		1	9.999999e-01	0	19	0	75	0	31	97
RGS12	6002	broad.mit.edu	37	4	3317942	3317942	+	Silent	SNP	G	G	A	rs377043527		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000344733.5	+	2	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000543385.1_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P|RGS12_ENST00000382788.3_Silent_p.P15P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	15					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602																																						ENST00000344733.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(43-45)ccG>ccA		regulator of G-protein signaling 12		G	,	0,4404		0,0,2202	67.0	81.0	76.0		45,45	-2.5	0.0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198229.2	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	15/1377,15/1448	3317942	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6002	6	121364	43				g.chr4:3317942G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.45G>A	chr4.hg19:g.3317942G>A		0					RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P	p.P15P	NM_198229.2	NP_937872.1	1	2	3	1.998139	O14924	RGS12_HUMAN		2	949	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	1	1	hg19	c.45G>A	CCDS3366.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	0		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000	NM_002926			148	148		636	629	1		1	1		0	0	122	0		1	9.258186e-01	0	5	0	16	0	148	636
RGS12	6002	broad.mit.edu	37	4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000344733.5	+	2	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000543385.1_Missense_Mutation_p.E248K|RGS12_ENST00000336727.3_Missense_Mutation_p.E248K|RGS12_ENST00000382788.3_Missense_Mutation_p.E248K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	248	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537																																						ENST00000344733.5	1.000000	0.370000	7.700000e-01	4.700000e-01	0.600000	0.629614	0.600000	0.590000																										0				43						c.(742-744)Gag>Aag		regulator of G-protein signaling 12							48.0	47.0	47.0					4																	3318639		2203	4300	6503	SO:0001583	missense	6002	0	0					g.chr4:3318639G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.742G>A	chr4.hg19:g.3318639G>A	ENSP00000339381:p.Glu248Lys	0					RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000336727.3_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K	p.E248K	NM_198229.2	NP_937872.1	1	2	3	1.998139	O14924	RGS12_HUMAN		2	1646	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	1	1	hg19	c.742G>A	CCDS3366.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058037	0.76074	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.19394	2.15;2.55;2.55;2.55	4.54	3.69	0.42338	4.54	3.69	0.42338	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.941;0.997;0.999	T	0.41805	-0.9488	10	0.39692	T	0.17	-39.8041	13.7741	0.63044	0.0:0.1547:0.8453:0.0	.	248;248;248	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	K	248	ENSP00000440566:E248K;ENSP00000339381:E248K;ENSP00000338509:E248K;ENSP00000372238:E248K	ENSP00000338509:E248K	E	+	1	0	0	RGS12	3288437	3288437	1.000000	0.71417	0.789000	0.31954	0.607000	0.37147	9.493000	0.97960	0.889000	0.36185	0.491000	0.48974	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-19.969710	1	0.170000	NM_002926			20	19		382	378	0		1	0		0	0	61	0		9.999950e-01	4.265085e-01	0	1	0	27	0	20	382
RGS12	6002	broad.mit.edu	37	4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000344733.5	+	2	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000543385.1_Missense_Mutation_p.R261H|RGS12_ENST00000336727.3_Missense_Mutation_p.R261H|RGS12_ENST00000382788.3_Missense_Mutation_p.R261H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	261	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597																																						ENST00000344733.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(781-783)cGc>cAc		regulator of G-protein signaling 12							36.0	37.0	37.0					4																	3318679		2203	4300	6503	SO:0001583	missense	6002	1	121412	31				g.chr4:3318679G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.782G>A	chr4.hg19:g.3318679G>A	ENSP00000339381:p.Arg261His	0					RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000336727.3_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H	p.R261H	NM_198229.2	NP_937872.1	1	2	3	1.998139	O14924	RGS12_HUMAN		2	1686	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	1	1	hg19	c.782G>A	CCDS3366.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244640	0.79912	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.23552	1.9;2.51;2.51;2.51	4.39	4.39	0.52855	4.39	4.39	0.52855	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.97;0.988	T	0.62158	-0.6913	10	0.87932	D	0	-30.3977	15.9516	0.79843	0.0:0.0:1.0:0.0	.	261;261;261	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	H	261	ENSP00000440566:R261H;ENSP00000339381:R261H;ENSP00000338509:R261H;ENSP00000372238:R261H	ENSP00000338509:R261H	R	+	2	0	0	RGS12	3288477	3288477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.417000	0.73337	1.989000	0.58080	0.491000	0.48974	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	0		2	2	2	0		0	0	50		50	48	1	2.060000	-20.000000	1	0.170000	NM_002926			69	67		267	263	1		1	1		0	0	50	0		1	8.134853e-01	0	2	0	12	0	69	267
RGS12	6002	broad.mit.edu	37	4	3432402	3432402	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000344733.5	+	17	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Silent_p.A630A	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1278					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741																																						ENST00000344733.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999740	0.990000	1.000000																										0				43						c.(3832-3834)gcC>gcA		regulator of G-protein signaling 12							10.0	12.0	11.0					4																	3432402		2181	4260	6441	SO:0001819	synonymous_variant	6002	0	0					g.chr4:3432402C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3834C>A	chr4.hg19:g.3432402C>A		0					RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000382788.3_Silent_p.A1278A	p.A1278A	NM_198229.2	NP_937872.1	1	2	3	1.998139	O14924	RGS12_HUMAN		17	4738	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	1	1	hg19	c.3834C>A	CCDS3366.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_002926			18	18		87	82	1		1	1		0	0	18	0		9.999844e-01	9.980686e-01	0	15	0	39	0	18	87
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A	rs375231980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	HGFAC_ENST00000382774.3_5'Flank|HGFAC_ENST00000511533.1_5'Flank|RGS12_ENST00000338806.4_Missense_Mutation_p.A760D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662																																						ENST00000344733.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(4222-4224)gCt>gAt		regulator of G-protein signaling 12							35.0	34.0	35.0					4																	3441290		2201	4295	6496	SO:0001583	missense	6002	0	0					g.chr4:3441290C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4223C>A	chr4.hg19:g.3441290C>A	ENSP00000339381:p.Ala1408Asp	0					RGS12_ENST00000338806.4_Missense_Mutation_p.A760D|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	p.A1408D	NM_198229.2	NP_937872.1	1	2	3	1.998139	O14924	RGS12_HUMAN		18	5127	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	1	1	hg19	c.4223C>A	CCDS3366.1	1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453747	0.26161	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34859	1.64;1.34	2.59	1.24	0.21308	2.59	1.24	0.21308	.	2.890200	0.02424	U	0.082860	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27700	0.16;0.186;0.18	B;B;B	0.32533	0.06;0.147;0.07	T	0.26467	-1.0102	10	0.49607	T	0.09	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	D	1408;760	ENSP00000339381:A1408D;ENSP00000342133:A760D	ENSP00000342133:A760D	A	+	2	0	0	RGS12	3411088	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.999330	1	0.170000	NM_002926			44	43		228	224	0		1	1		0	0	49	0		1	9.248389e-01	0	12	0	12	0	44	228
HGFAC	3083	broad.mit.edu	37	4	3446679	3446679	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	325	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716																																						ENST00000382774.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(973-975)ggC>ggT		HGF activator							15.0	17.0	16.0					4																	3446679		2190	4289	6479	SO:0001819	synonymous_variant	3083	4	120038	33				g.chr4:3446679C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.975C>T	chr4.hg19:g.3446679C>T		0					HGFAC_ENST00000511533.1_Silent_p.G325G	p.G325G	NM_001528.2	NP_001519.1	1	2	3	1.998139	Q04756	HGFA_HUMAN		8	1090	+			Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	1	1	hg19	c.975C>T	CCDS3369.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				27	27		96	94	0		1			0	0	25	0		1	0	0	0	0	0	0	27	96
DOK7	285489	broad.mit.edu	37	4	3495172	3495172	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	ENST00000340083.5	+	7	1524	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	487					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCACCCCCGGCTTTCTTTTC	0.692																																						ENST00000340083.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999961	0.990000	1.000000																										0				5						c.(1459-1461)Gct>Tct		docking protein 7							8.0	9.0	9.0					4																	3495172		2065	4013	6078	SO:0001583	missense	285489	6	119868	30				g.chr4:3495172G>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1459G>T	chr4.hg19:g.3495172G>T	ENSP00000344432:p.Ala487Ser	0					DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	p.A487S	NM_173660.4	NP_775931.3	1	2	3	1.998139	Q18PE1	DOK7_HUMAN		7	1524	+			A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	1	1	hg19	c.1459G>T	CCDS3370.2	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839279	0.32513	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.68903	-0.36;-0.27	3.77	2.92	0.33932	3.77	2.92	0.33932	.	0.149388	0.44688	D	0.000440	T	0.78489	0.4291	M	0.73598	2.24	0.09310	N	0.999996	P;D;B	0.71674	0.713;0.998;0.147	B;D;B	0.80764	0.424;0.994;0.035	T	0.68477	-0.5398	10	0.56958	D	0.05	-9.6516	10.5116	0.44866	0.0958:0.0:0.9042:0.0	.	487;349;487	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	S	487	ENSP00000374304:A487S;ENSP00000344432:A487S	ENSP00000344432:A487S	A	+	1	0	0	DOK7	3464970	3464970	0.998000	0.40836	0.043000	0.18650	0.147000	0.21601	2.799000	0.47892	0.812000	0.34326	0.555000	0.69702	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_173660			18	17		66	66	0		1	0		0	0	19	0		9.999910e-01	5.078856e-02	0	1	0	1	0	18	66
ADRA2C	152	broad.mit.edu	37	4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	180					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|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)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|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)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTCATCTCGGCCGTCATCTC	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(538-540)Gcc>Acc		adrenoceptor alpha 2C	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|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)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)						27.0	28.0	27.0					4																	3768871		2199	4296	6495	SO:0001583	missense	152	0	0					g.chr4:3768871G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.538G>A	chr4.hg19:g.3768871G>A	ENSP00000386069:p.Ala180Thr	0					ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	p.A180T	NM_000683.3	NP_000674.2	1	2	3	1.998139	P18825	ADA2C_HUMAN		1	747	+			P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	1	1	hg19	c.538G>A	CCDS47004.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444253	0.83993	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.37	3.37	0.38596	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61489	0.2351	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.69771	-0.5055	9	0.87932	D	0	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	180;180	D6RGL0;P18825	.;ADA2C_HUMAN	T	180	ENSP00000426268:A180T;ENSP00000386069:A180T	ENSP00000386069:A180T	A	+	1	0	0	ADRA2C	3738669	3738669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.710000	0.74670	1.706000	0.51276	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_000683			31	29		122	120	0		1	1		0	0	25	0		1	9.978104e-01	0	10	0	31	0	31	122
ADRA2C	152	broad.mit.edu	37	4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	192					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|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)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|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)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCTACCGCCAGCCCGAC	0.667																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(574-576)cGc>cAc		adrenoceptor alpha 2C	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|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)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)						17.0	19.0	18.0					4																	3768908		2187	4292	6479	SO:0001583	missense	152	1	120914	22				g.chr4:3768908G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.575G>A	chr4.hg19:g.3768908G>A	ENSP00000386069:p.Arg192His	0					ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	p.R192H	NM_000683.3	NP_000674.2	1	2	3	1.998139	P18825	ADA2C_HUMAN		1	784	+			P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	1	1	hg19	c.575G>A	CCDS47004.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722940	0.48728	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37915	1.17;1.17	3.37	3.37	0.38596	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31071	0.0785	L	0.53617	1.68	0.50171	D	0.999851	P;B	0.42584	0.784;0.344	B;B	0.34452	0.183;0.07	T	0.30592	-0.9973	9	0.45353	T	0.12	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	192;192	D6RGL0;P18825	.;ADA2C_HUMAN	H	192	ENSP00000426268:R192H;ENSP00000386069:R192H	ENSP00000386069:R192H	R	+	2	0	0	ADRA2C	3738706	3738706	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.140000	0.58031	1.706000	0.51276	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	1	0	0		2	2	2	0		0	0	21		21	19	1	2.060000	-20.000000	1	0.170000	NM_000683			30	29		107	104	0		1	1		0	0	21	0		1	9.223401e-01	0	2	0	16	0	30	107
OTOP1	133060	broad.mit.edu	37	4	4228393	4228393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4228393G>A	ENST00000296358.4	-	1	223	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	67					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)				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)		AACACGATCAGCCCATACTGG	0.716																																						ENST00000296358.4	1.000000	0.240000	9.700000e-01	4.000000e-01	0.620000	0.651023	0.620000	1.000000																										0				34						c.(199-201)Ctg>Ttg		otopetrin 1							9.0	10.0	9.0					4																	4228393		2065	4067	6132	SO:0001819	synonymous_variant	133060	0	0					g.chr4:4228393G>A	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.199C>T	chr4.hg19:g.4228393G>A		0						p.L67L	NM_177998.1	NP_819056.1	1	2	3	1.998139	Q7RTM1	OTOP1_HUMAN		1	223	-			A1L476	Silent	SNP	ENST00000296358.4	0	1	hg19	c.199C>T	CCDS3372.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	0	0	0		2	2	2	0		0	0	8		8	5	1	2.060000	-8.867477	1	0.170000	NM_177998			5	4		98	53	0		1			0	0	8	0		7.789820e-01	0	0	0	0	0	0	5	98
TMEM128	85013	broad.mit.edu	37	4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000382753.4	-	3	361	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000254742.2_Missense_Mutation_p.A94T			Q5BJH2	TM128_HUMAN	transmembrane protein 128	118						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368																																						ENST00000382753.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				2						c.(352-354)Gcc>Acc		transmembrane protein 128							134.0	108.0	117.0					4																	4242094		2203	4300	6503	SO:0001583	missense	85013	0	0					g.chr4:4242094C>T	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.352G>A	chr4.hg19:g.4242094C>T	ENSP00000372201:p.Ala118Thr	0					TMEM128_ENST00000254742.2_Missense_Mutation_p.A94T|TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T	p.A118T			1	2	3	1.998139	Q5BJH2	TM128_HUMAN		3	361	-			B4DHS7|D3DVS3|Q5H9U6|Q96I94	Missense_Mutation	SNP	ENST00000382753.4	1	1	hg19	c.352G>A		1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677821	0.14841	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	-10.3	0.00346	5.48	-10.3	0.00346	.	0.847211	0.10602	N	0.655600	T	0.55816	0.1944	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.004	T	0.45234	-0.9275	10	0.22706	T	0.39	-0.0782	13.3231	0.60444	0.1752:0.7316:0.0:0.0933	.	118;118;118;94	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	T	94;118;118;118	ENSP00000254742:A94T;ENSP00000372201:A118T;ENSP00000442300:A118T;ENSP00000439174:A118T	ENSP00000254742:A94T	A	-	1	0	0	TMEM128	4292995	4292995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.607000	0.05648	-2.754000	0.00373	-0.156000	0.13503	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-15.577960	1	0.170000	NM_032927			27	27		142	140	1		1	1		0	0	23	0		1	1	0	30	0	129	0	27	142
STX18	53407	broad.mit.edu	37	4	4421790	4421790	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000306200.2	-	11	1042	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	327					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)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567																																						ENST00000306200.2	1.000000	0.710000	1	9.600000e-01	0.990000	0.972951	0.990000	1.000000																										0				5						c.(979-981)Ttg>Ctg		syntaxin 18							74.0	62.0	66.0					4																	4421790		2203	4300	6503	SO:0001819	synonymous_variant	53407	0	0					g.chr4:4421790A>G	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.979T>C	chr4.hg19:g.4421790A>G		0					STX18_ENST00000505286.1_Intron	p.L327L	NM_016930.2	NP_058626.1	1	2	3	1.998139	Q9P2W9	STX18_HUMAN		11	1042	-			Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	0	1	hg19	c.979T>C	CCDS3377.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-19.004680	1	0.170000				12	12		100	99	1		1	1		0	0	12	0		9.992524e-01	9.999996e-01	0	104	0	191	0	12	100
MSX1	4487	broad.mit.edu	37	4	4864471	4864471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	171					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617																																						ENST00000382723.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(511-513)acG>acA		msh homeobox 1							61.0	77.0	72.0					4																	4864471		2198	4296	6494	SO:0001819	synonymous_variant	4487	0	0					g.chr4:4864471G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.513G>A	chr4.hg19:g.4864471G>A		0					MSX1_ENST00000468421.1_3'UTR	p.T171T	NM_002448.3	NP_002439.2	1	2	3	1.998139	P28360	MSX1_HUMAN		2	747	+			A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	1	1	hg19	c.513G>A	CCDS3378.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3	1	0	1		25	2	2	0		0	1	145		145	141	1	2.060000	-20.000000	1	0.170000				200	197		936	908	1		1	0		0	0	145	0		1	8.002098e-01	0	0	0	16	0	200	936
CYTL1	54360	broad.mit.edu	37	4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	122					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				11						c.(364-366)Gaa>Taa		cytokine-like 1							130.0	111.0	117.0					4																	5016925		2203	4300	6503	SO:0001587	stop_gained	54360	0	0					g.chr4:5016925C>A	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.364G>T	chr4.hg19:g.5016925C>A	ENSP00000303550:p.Glu122*	0						p.E122*	NM_018659.2	NP_061129.1	1	2	3	1.998139	Q9NRR1	CYTL1_HUMAN		4	390	-				Nonsense_Mutation	SNP	ENST00000307746.4	0	1	hg19	c.364G>T	CCDS3379.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.80|11.80|11.80	1.747105|1.747105|1.747105	0.30955|0.30955|0.30955	.|.|.	.|.|.	ENSG00000170891|ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508|ENST00000509419	.|.|.	.|.|.	.|.|.	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	.|.|.	0.142736|.|.	0.45361|.|.	D|.|.	0.000361|.|.	.|T|T	.|0.64046|0.64046	.|0.2563|0.2563	.|.|.	.|.|.	.|.|.	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63175|0.63175	.|-0.6696|-0.6696	.|4|4	0.72032|.|.	D|.|.	0.01|.|.	-20.4236|-20.4236|-20.4236	12.6303|12.6303|12.6303	0.56653|0.56653|0.56653	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|V|C	122|61|77	.|.|.	ENSP00000303550:E122X|.|.	E|G|W	-|-|-	1|2|3	0|0|0	0|0|0	CYTL1|CYTL1|CYTL1	5067826|5067826|5067826	5067826|5067826|5067826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.809000|0.809000|0.809000	0.32408|0.32408|0.32408	0.101000|0.101000|0.101000	0.19017|0.19017|0.19017	3.648000|3.648000|3.648000	0.54410|0.54410|0.54410	2.022000|2.022000|2.022000	0.59522|0.59522|0.59522	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.284011	1	0.170000	NM_018659			25	24		109	106	1		1	0		0	0	42	0		9.999999e-01	5.308476e-01	0	0	0	9	0	25	109
EVC2	132884	broad.mit.edu	37	4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000344408.5	-	22	3726	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.T1145A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1225					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443																																						ENST00000344408.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(3673-3675)Aca>Gca		Ellis van Creveld syndrome 2							99.0	104.0	102.0					4																	5564829		2203	4300	6503	SO:0001583	missense	132884	0	0					g.chr4:5564829T>C	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.3673A>G	chr4.hg19:g.5564829T>C	ENSP00000342144:p.Thr1225Ala	0					EVC2_ENST00000310917.2_Missense_Mutation_p.T1145A|EVC2_ENST00000344938.1_Intron	p.T1225A	NM_147127.4	NP_667338.3	1	2	3	1.998139	Q86UK5	LBN_HUMAN		22	3726	-			Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	1	1	hg19	c.3673A>G	CCDS3382.2	1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.328128	0.01309	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74106	-0.81;-0.81	5.32	-4.61	0.03380	5.32	-4.61	0.03380	.	0.635267	0.15377	N	0.265509	T	0.48150	0.1484	L	0.27053	0.805	0.24101	N	0.995872	B	0.15473	0.013	B	0.10450	0.005	T	0.36529	-0.9744	10	0.14252	T	0.57	-1.3604	2.4096	0.04421	0.1119:0.1471:0.3375:0.4035	.	1225	Q86UK5	LBN_HUMAN	A	1145;1225	ENSP00000311683:T1145A;ENSP00000342144:T1225A	ENSP00000311683:T1145A	T	-	1	0	0	EVC2	5615730	5615730	0.005000	0.15991	0.008000	0.14137	0.272000	0.26649	-0.562000	0.05950	-1.038000	0.03279	-1.966000	0.00469	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-20.000000	1	0.170000	NM_147127			154	153		527	520	1		1	0		0	0	138	0		1	7.907163e-01	0	0	0	12	0	154	527
EVC2	132884	broad.mit.edu	37	4	5586544	5586544	+	Missense_Mutation	SNP	G	G	A	rs116502852	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5586544G>A	ENST00000344408.5	-	17	2916	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	EVC2_ENST00000344938.1_Missense_Mutation_p.R955W|EVC2_ENST00000310917.2_Missense_Mutation_p.R875W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	955					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCTCCATCCGCTGCACTCTC	0.607													G|||	31	0.0061901	0.0219	0.0029	5008	,	,		19251	0.0		0.0	False		,,,				2504	0.0					ENST00000344408.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2863-2865)Cgg>Tgg		Ellis van Creveld syndrome 2		G	TRP/ARG,TRP/ARG	83,4323	70.9+/-108.8	1,81,2121	75.0	77.0	76.0		2623,2863	3.1	1.0	4	dbSNP_132	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	101,101	1,82,6420	AA,AG,GG		0.0116,1.8838,0.6459	probably-damaging,probably-damaging	875/1229,955/1309	5586544	84,12922	2203	4300	6503	SO:0001583	missense	132884	205	121412	54				g.chr4:5586544G>A	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.2863C>T	chr4.hg19:g.5586544G>A	ENSP00000342144:p.Arg955Trp	0					EVC2_ENST00000310917.2_Missense_Mutation_p.R875W|EVC2_ENST00000344938.1_Missense_Mutation_p.R955W	p.R955W	NM_147127.4	NP_667338.3	1	2	3	1.998139	Q86UK5	LBN_HUMAN		17	2916	-			Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	1	0	hg19	c.2863C>T	CCDS3382.2	1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	15.36	2.809284	0.50421	0.018838	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74737	-0.87;-0.86;-0.87	4.95	3.12	0.35913	4.95	3.12	0.35913	.	0.432330	0.24552	N	0.037551	T	0.50086	0.1595	N	0.19112	0.55	0.31202	N	0.699674	D	0.69078	0.997	P	0.50490	0.642	T	0.63014	-0.6731	10	0.37606	T	0.19	-17.2626	11.6721	0.51408	0.0:0.0:0.6665:0.3335	.	955	Q86UK5	LBN_HUMAN	W	955;875;955	ENSP00000339954:R955W;ENSP00000311683:R875W;ENSP00000342144:R955W	ENSP00000311683:R875W	R	-	1	2	2	EVC2	5637445	5637445	1.000000	0.71417	0.981000	0.43875	0.257000	0.26127	2.253000	0.43205	0.532000	0.28657	-0.399000	0.06403	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	0	0	1		17	3	2	1		1	1	64		64	64	1	2.060000	-2.895930	1	0.170000	NM_147127			59	58		267	264	1		1	0		1	0	64	0		9.999999e-01	6.197070e-01	0	0	0	17	0	59	267
EVC2	132884	broad.mit.edu	37	4	5620298	5620298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000344408.5	-	15	2666	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	EVC2_ENST00000344938.1_Silent_p.I871I|EVC2_ENST00000310917.2_Silent_p.I791I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	871					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602																																						ENST00000344408.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				81						c.(2611-2613)atC>atT		Ellis van Creveld syndrome 2							42.0	41.0	41.0					4																	5620298		2203	4300	6503	SO:0001819	synonymous_variant	132884	1	121412	31				g.chr4:5620298G>A	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.2613C>T	chr4.hg19:g.5620298G>A		0					EVC2_ENST00000310917.2_Silent_p.I791I|EVC2_ENST00000344938.1_Silent_p.I871I	p.I871I	NM_147127.4	NP_667338.3	1	2	3	1.998139	Q86UK5	LBN_HUMAN		15	2666	-			Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	1	1	hg19	c.2613C>T	CCDS3382.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_147127			34	34		149	146	1		1	0		0	0	38	0		1	8.688914e-01	0	0	0	18	0	34	149
EVC2	132884	broad.mit.edu	37	4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000344408.5	-	11	1551	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	EVC2_ENST00000344938.1_Missense_Mutation_p.R500W|EVC2_ENST00000310917.2_Missense_Mutation_p.R420W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	500					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22241	0.0		0.0	False		,,,				2504	0.0					ENST00000344408.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				81						c.(1498-1500)Cgg>Tgg		Ellis van Creveld syndrome 2							68.0	66.0	67.0					4																	5633732		2203	4300	6503	SO:0001583	missense	132884	4	121412	41				g.chr4:5633732G>A	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.1498C>T	chr4.hg19:g.5633732G>A	ENSP00000342144:p.Arg500Trp	0					EVC2_ENST00000310917.2_Missense_Mutation_p.R420W|EVC2_ENST00000344938.1_Missense_Mutation_p.R500W	p.R500W	NM_147127.4	NP_667338.3	1	2	3	1.998139	Q86UK5	LBN_HUMAN		11	1551	-			Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	1	1	hg19	c.1498C>T	CCDS3382.2	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.34	2.207709	0.39003	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78481	-1.18;-1.18;-1.18	4.79	1.85	0.25348	4.79	1.85	0.25348	.	0.170692	0.39985	N	0.001208	D	0.82296	0.5006	L	0.57536	1.79	0.35279	D	0.781174	D	0.89917	1.0	D	0.73708	0.981	D	0.84025	0.0356	10	0.72032	D	0.01	-44.7623	7.5351	0.27706	0.0:0.3201:0.434:0.2458	.	500	Q86UK5	LBN_HUMAN	W	500;420;500	ENSP00000339954:R500W;ENSP00000311683:R420W;ENSP00000342144:R500W	ENSP00000311683:R420W	R	-	1	2	2	EVC2	5684633	5684633	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	1.242000	0.32755	0.516000	0.28340	0.505000	0.49811	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.339654	1	0.170000	NM_147127			47	47		246	243	1		1	0		0	0	60	0		1	6.438098e-01	0	0	0	13	0	47	246
EVC	2121	broad.mit.edu	37	4	5803763	5803763	+	Silent	SNP	C	C	T	rs202236029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000264956.6	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000382674.2_Silent_p.I797I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	797					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602																																						ENST00000264956.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				28						c.(2389-2391)atC>atT		Ellis van Creveld syndrome							74.0	76.0	75.0					4																	5803763		2203	4300	6503	SO:0001819	synonymous_variant	2121	8	121412	40				g.chr4:5803763C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2391C>T	chr4.hg19:g.5803763C>T		0					EVC_ENST00000382674.2_Silent_p.I797I	p.I797I	NM_153717.2	NP_714928.1	1	2	3	1.998139	P57679	EVC_HUMAN		16	2575	+		Myeloproliferative disorder(84;0.117)		Silent	SNP	ENST00000264956.6	1	1	hg19	c.2391C>T	CCDS3383.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	1		2	2	2	0		0	0	50		50	48	1	2.060000	-3.331945	1	0.170000				34	34		193	190	1		1	0		0	0	50	0		1	9.902184e-01	0	0	0	44	0	34	193
CRMP1	1400	broad.mit.edu	37	4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000397890.2	-	4	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N|CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	140					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)			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)		CTTGTGATGTCCACGTGGAGG	0.552																																						ENST00000397890.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(418-420)Gac>Aac		collapsin response mediator protein 1							122.0	103.0	109.0					4																	5857930		2203	4300	6503	SO:0001583	missense	1400	0	0					g.chr4:5857930C>T	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.418G>A	chr4.hg19:g.5857930C>T	ENSP00000380987:p.Asp140Asn	0					CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N	p.D140N	NM_001313.3	NP_001304.1	1	2	3	1.998139	Q14194	DPYL1_HUMAN		4	632	-			A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	1	1	hg19	c.418G>A	CCDS43207.1	1	.	.	.	.	.	.	.	.	.	.	c	18.20	3.571960	0.65765	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90004	-2.6;-2.6;-2.6	3.09	3.09	0.35607	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.64676	1.99	0.51233	D	0.999913	B;B;B;D	0.89917	0.34;0.447;0.226;1.0	B;B;B;D	0.97110	0.232;0.186;0.132;1.0	D	0.92602	0.6092	10	0.52906	T	0.07	-26.4066	13.358	0.60640	0.0:1.0:0.0:0.0	.	254;138;140;77	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	254;140;140;138	ENSP00000321606:D254N;ENSP00000380987:D140N;ENSP00000425742:D138N	ENSP00000321606:D254N	D	-	1	0	0	CRMP1	5908831	5908831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.814285	1	0.170000	NM_001313			60	60		226	223	1		1	0		0	0	58	0		1	9.963162e-01	0	0	0	35	0	60	226
C4orf50	389197	broad.mit.edu	37	4	5966868	5966868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000324058.5	-	6	551	c.462G>A	c.(460-462)caG>caA	p.Q154Q	C4orf50_ENST00000531445.1_Silent_p.Q628Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507																																						ENST00000324058.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				15						c.(460-462)caG>caA		chromosome 4 open reading frame 50							69.0	74.0	72.0					4																	5966868		2203	4300	6503	SO:0001819	synonymous_variant	389197	0	0					g.chr4:5966868C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.462G>A	chr4.hg19:g.5966868C>T		0					C4orf50_ENST00000531445.1_Silent_p.Q628Q	p.Q154Q			1	2	3	1.998139	Q6ZRC1	CD050_HUMAN		6	551	-				Silent	SNP	ENST00000324058.5	1	1	hg19	c.462G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.336488	1	0.170000	NM_207405			39	39		212	205	1		1			0	0	62	0		1	0	0	0	0	0	0	39	212
C4orf50	389197	broad.mit.edu	37	4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000324058.5	-	4	358	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C4orf50_ENST00000531445.1_Missense_Mutation_p.R564H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	90										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTGATCAGGCGGTTCCTCTC	0.632																																						ENST00000324058.5	1.000000	0.340000	7.600000e-01	4.400000e-01	0.570000	0.606456	0.570000	0.550000																										0				15						c.(268-270)cGc>cAc		chromosome 4 open reading frame 50							69.0	62.0	64.0					4																	5975525		2203	4300	6503	SO:0001583	missense	389197	2	121412	30				g.chr4:5975525C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.269G>A	chr4.hg19:g.5975525C>T	ENSP00000317287:p.Arg90His	0					C4orf50_ENST00000531445.1_Missense_Mutation_p.R564H	p.R90H			1	2	3	1.998139	Q6ZRC1	CD050_HUMAN		4	358	-				Missense_Mutation	SNP	ENST00000324058.5	1	1	hg19	c.269G>A		0	.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070634	0.01918	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23552	1.9;1.9	4.6	-8.19	0.01049	4.6	-8.19	0.01049	.	1.351300	0.05126	N	0.491658	T	0.05227	0.0139	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25950	-1.0117	10	0.14656	T	0.56	-2.3071	3.5234	0.07751	0.1109:0.4458:0.1113:0.332	.	90	Q6ZRC1	CD050_HUMAN	H	564;90	ENSP00000437121:R564H;ENSP00000317287:R90H	ENSP00000317287:R90H	R	-	2	0	0	C4orf50	6026426	6026426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.011000	0.01452	-1.989000	0.00979	-0.254000	0.11334	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-17.296690	1	0.170000	NM_207405			16	16		322	318	0		1			0	0	47	0		9.999319e-01	0	0	0	0	0	0	16	322
C4orf50	389197	broad.mit.edu	37	4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000324058.5	-	3	261	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C4orf50_ENST00000531445.1_Missense_Mutation_p.E532K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	58										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428																																						ENST00000324058.5	1.000000	0.790000	1	9.800000e-01	0.990000	0.981461	0.990000	1.000000																										0				15						c.(172-174)Gaa>Aaa		chromosome 4 open reading frame 50							116.0	108.0	111.0					4																	5977679		2203	4300	6503	SO:0001583	missense	389197	0	0					g.chr4:5977679C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.172G>A	chr4.hg19:g.5977679C>T	ENSP00000317287:p.Glu58Lys	0					C4orf50_ENST00000531445.1_Missense_Mutation_p.E532K	p.E58K			1	2	3	1.998139	Q6ZRC1	CD050_HUMAN		3	261	-				Missense_Mutation	SNP	ENST00000324058.5	1	1	hg19	c.172G>A		1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023939	0.19433	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.25250	1.81;1.81	3.2	0.226	0.15353	3.2	0.226	0.15353	.	1.293370	0.05830	N	0.617356	T	0.19604	0.0471	L	0.43152	1.355	0.09310	N	1	P	0.36535	0.557	B	0.30572	0.117	T	0.23726	-1.0180	10	0.54805	T	0.06	0.1767	5.5477	0.17073	0.0:0.4933:0.3869:0.1198	.	58	Q6ZRC1	CD050_HUMAN	K	532;58	ENSP00000437121:E532K;ENSP00000317287:E58K	ENSP00000317287:E58K	E	-	1	0	0	C4orf50	6028580	6028580	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.081000	0.14823	-0.111000	0.12001	0.455000	0.32223	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		16	2	2	0		0	1	48		48	47	1	2.060000	-3.017773	1	0.170000	NM_207405			24	23		215	209	1		1			0	0	48	0		9.159594e-01	0	0	0	0	0	0	24	215
JAKMIP1	152789	broad.mit.edu	37	4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000282924.5	-	8	1747	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	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)			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						CCTTTTGGAGCGCAACAGCCG	0.567																																						ENST00000282924.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1261-1263)cGc>cAc		janus kinase and microtubule interacting protein 1							109.0	87.0	94.0					4																	6080706		2203	4300	6503	SO:0001583	missense	152789	2	121412	30				g.chr4:6080706C>T	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.1262G>A	chr4.hg19:g.6080706C>T	ENSP00000282924:p.Arg421His	0					JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron	p.R421H	NM_144720.3	NP_653321.1	1	2	3	1.998139	Q96N16	JKIP1_HUMAN		8	1747	-			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	1	1	hg19	c.1262G>A	CCDS3385.1	1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087251	0.55968	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35048	1.74;1.75;1.75;1.33	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.080268	0.53938	N	0.000057	T	0.49253	0.1546	M	0.73962	2.25	0.43462	D	0.995669	D;B;D;B	0.71674	0.998;0.01;0.994;0.01	P;B;P;B	0.48488	0.579;0.003;0.579;0.003	T	0.55444	-0.8140	10	0.52906	T	0.07	.	17.8446	0.88725	0.0:1.0:0.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	H	421;421;313;421;421;256	ENSP00000386711:R421H;ENSP00000282924:R421H;ENSP00000386925:R421H;ENSP00000386745:R256H	ENSP00000282924:R421H	R	-	2	0	0	JAKMIP1	6131607	6131607	0.972000	0.33761	0.993000	0.49108	0.960000	0.62799	2.320000	0.43797	2.445000	0.82738	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_144720			49	48		201	196	1		1	0		0	0	44	0		1	1.795774e-01	0	0	0	4	0	49	201
WFS1	7466	broad.mit.edu	37	4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647																																						ENST00000226760.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				21						c.(682-684)Cgc>Tgc		Wolfram syndrome 1 (wolframin)							45.0	39.0	41.0					4																	6293694		2195	4298	6493	SO:0001583	missense	7466	3	121034	24				g.chr4:6293694C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.682C>T	chr4.hg19:g.6293694C>T	ENSP00000226760:p.Arg228Cys	0					WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		6	852	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	1	1	hg19	c.682C>T	CCDS3386.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854440	0.71719	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.94966	-3.57;-3.57	4.37	3.46	0.39613	4.37	3.46	0.39613	.	0.052887	0.64402	D	0.000001	D	0.95538	0.8550	L	0.54323	1.7	0.49130	D	0.99975	D	0.89917	1.0	D	0.75484	0.986	D	0.94871	0.8030	10	0.54805	T	0.06	-44.9845	11.1008	0.48172	0.3123:0.6877:0.0:0.0	.	228	O76024	WFS1_HUMAN	C	228	ENSP00000423337:R228C;ENSP00000226760:R228C	ENSP00000226760:R228C	R	+	1	0	0	WFS1	6344595	6344595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.994000	0.49433	2.144000	0.66660	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-3.809386	1	0.170000				20	20		73	73	1		1	1		0	0	13	0		9.999981e-01	9.999717e-01	0	8	0	63	0	20	73
WFS1	7466	broad.mit.edu	37	4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T	rs397517194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	368					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582																																						ENST00000226760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1102-1104)aGc>aTc		Wolfram syndrome 1 (wolframin)							268.0	207.0	228.0					4																	6302625		2203	4300	6503	SO:0001583	missense	7466	0	0					g.chr4:6302625G>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1103G>T	chr4.hg19:g.6302625G>T	ENSP00000226760:p.Ser368Ile	0					WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		8	1273	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	1	1	hg19	c.1103G>T	CCDS3386.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.70|16.70	3.195734|3.195734	0.58126|0.58126	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.90900	.|-2.75;-2.75	4.84|4.84	4.84|4.84	0.62591|0.62591	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.149328	.|0.56097	.|D	.|0.000026	D|D	0.92028|0.92028	0.7474|0.7474	M|M	0.62723|0.62723	1.935|1.935	0.49483|0.49483	D|D	0.999797|0.999797	.|P	.|0.43633	.|0.813	.|P	.|0.48840	.|0.592	D|D	0.93101|0.93101	0.6508|0.6508	5|10	.|0.72032	.|D	.|0.01	-32.0773|-32.0773	16.9399|16.9399	0.86215|0.86215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368	.|O76024	.|WFS1_HUMAN	S|I	246|368	.|ENSP00000423337:S368I;ENSP00000226760:S368I	.|ENSP00000226760:S368I	A|S	+|+	1|2	0|0	0|0	WFS1|WFS1	6353526|6353526	6353526|6353526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.765000|0.765000	0.43378|0.43378	7.258000|7.258000	0.78371|0.78371	2.240000|2.240000	0.73641|0.73641	0.556000|0.556000	0.70494|0.70494	GCA|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000				99	98		515	503	1		1	1		0	0	116	0		1	1	0	20	0	114	0	99	515
WFS1	7466	broad.mit.edu	37	4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T	rs371911218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	517					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577																																						ENST00000226760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21	GRCh37	CD993079	WFS1	D		c.(1549-1551)Cgc>Tgc		Wolfram syndrome 1 (wolframin)			CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	100.0	107.0		1549,1549	3.5	1.0	4		107	0,8600		0,0,4300	no	missense,missense	WFS1	NM_006005.3,NM_001145853.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	517/891,517/891	6303071	1,13005	2203	4300	6503	SO:0001583	missense	7466	4	121412	40				g.chr4:6303071C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1549C>T	chr4.hg19:g.6303071C>T	ENSP00000226760:p.Arg517Cys	0					WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		8	1719	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	1	1	hg19	c.1549C>T	CCDS3386.1	1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225411	0.22457	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.81821	-1.54;-1.54	4.38	3.45	0.39498	4.38	3.45	0.39498	.	0.127040	0.53938	D	0.000044	T	0.75496	0.3857	M	0.61703	1.905	0.53688	D	0.999979	B	0.22414	0.069	B	0.16722	0.016	T	0.76591	-0.2903	10	0.87932	D	0	-51.3577	9.4528	0.38736	0.3831:0.6168:0.0:0.0	.	517	O76024	WFS1_HUMAN	C	517	ENSP00000423337:R517C;ENSP00000226760:R517C	ENSP00000226760:R517C	R	+	1	0	0	WFS1	6353972	6353972	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.007000	0.40883	2.269000	0.75478	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.279470	1	0.170000				117	116		528	520	1		1	1		0	0	89	0		1	9.999980e-01	0	13	0	72	0	117	528
WFS1	7466	broad.mit.edu	37	4	6303313	6303313	+	Silent	SNP	C	C	T	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	597					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647																																						ENST00000226760.1	1.000000	0.270000	5.400000e-01	3.400000e-01	0.430000	0.465989	0.430000	0.410000																										0				21						c.(1789-1791)atC>atT		Wolfram syndrome 1 (wolframin)		C	,	2,4404	4.2+/-10.8	0,2,2201	131.0	124.0	126.0		1791,1791	-0.3	0.0	4	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	597/891,597/891	6303313	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466	3	121410	43				g.chr4:6303313C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1791C>T	chr4.hg19:g.6303313C>T		0					WFS1_ENST00000503569.1_Silent_p.I597I	p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		8	1961	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	1	1	hg19	c.1791C>T	CCDS3386.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.426604	1	0.170000				23	23		624	618	0		1	1		0	0	118	0		9.999993e-01	8.181845e-01	0	5	0	82	0	23	624
WFS1	7466	broad.mit.edu	37	4	6303910	6303910	+	Silent	SNP	C	C	T	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	796					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627																																						ENST00000226760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2386-2388)gaC>gaT		Wolfram syndrome 1 (wolframin)							33.0	36.0	35.0					4																	6303910		2203	4298	6501	SO:0001819	synonymous_variant	7466	4	121218	32				g.chr4:6303910C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2388C>T	chr4.hg19:g.6303910C>T		0					WFS1_ENST00000503569.1_Silent_p.D796D	p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		8	2558	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	1	1	hg19	c.2388C>T	CCDS3386.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	0		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				55	55		220	219	1		1	1		0	0	47	0		1	9.999887e-01	0	14	0	57	0	55	220
WFS1	7466	broad.mit.edu	37	4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	804					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652																																						ENST00000226760.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2410-2412)Ctg>Atg		Wolfram syndrome 1 (wolframin)							39.0	42.0	41.0					4																	6303932		2203	4300	6503	SO:0001583	missense	7466	0	0					g.chr4:6303932C>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2410C>A	chr4.hg19:g.6303932C>A	ENSP00000226760:p.Leu804Met	0					WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	1	2	3	1.998139	O76024	WFS1_HUMAN		8	2580	+			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	1	1	hg19	c.2410C>A	CCDS3386.1	1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663252	0.67700	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95342	-3.68;-3.68	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.95655	0.8587	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96219	0.9159	10	0.72032	D	0.01	-23.9621	18.573	0.91144	0.0:1.0:0.0:0.0	.	804	O76024	WFS1_HUMAN	M	804;804;182	ENSP00000423337:L804M;ENSP00000226760:L804M	ENSP00000226760:L804M	L	+	1	2	2	WFS1	6354833	6354833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.248000	0.43160	2.636000	0.89361	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000				54	54		247	247	1		1	1		0	0	53	0		1	9.999917e-01	0	17	0	65	0	54	247
MAN2B2	23324	broad.mit.edu	37	4	6578436	6578436	+	Silent	SNP	C	C	T	rs368603888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	90					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597																																						ENST00000285599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(268-270)gaC>gaT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		270	-0.5	0.1	4		65	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		90/1010	6578436	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324	2	121408	33				g.chr4:6578436C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.270C>T	chr4.hg19:g.6578436C>T		0					MAN2B2_ENST00000504248.1_Silent_p.D90D	p.D90D	NM_015274.1	NP_056089.1	1	2	3	1.998139	Q9Y2E5	MA2B2_HUMAN		2	306	+			Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	1	1	hg19	c.270C>T	CCDS33951.1	1	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.043348	0.01997	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	3.67	-0.46	0.12175	3.67	-0.46	0.12175	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	7.1801	0.25768	0.0:0.2972:0.4966:0.2062	.	.	.	.	I	89	.	.	T	+	2	0	0	MAN2B2	6629337	6629337	0.000000	0.05858	0.135000	0.22099	0.251000	0.25915	-0.223000	0.09177	-0.768000	0.04626	-1.358000	0.01219	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_015274			77	77		358	352	1		1	1		0	0	99	0		1	1	0	19	0	96	0	77	358
MAN2B2	23324	broad.mit.edu	37	4	6598925	6598925	+	Silent	SNP	C	C	T	rs372728164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	381					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672																																						ENST00000285599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1141-1143)gcC>gcT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	81.0	90.0	87.0		1143	-9.5	0.1	4		87	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/1010	6598925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324	3	121410	41				g.chr4:6598925C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1143C>T	chr4.hg19:g.6598925C>T		0					MAN2B2_ENST00000504248.1_Silent_p.A330A	p.A381A	NM_015274.1	NP_056089.1	1	2	3	1.998139	Q9Y2E5	MA2B2_HUMAN		8	1179	+			Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	1	1	hg19	c.1143C>T	CCDS33951.1	1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366790	0.24771	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	5.13	-9.49	0.00587	5.13	-9.49	0.00587	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-25.9402	2.8042	0.05423	0.347:0.1042:0.0869:0.4619	.	.	.	.	L	380	.	.	P	+	2	0	0	MAN2B2	6649826	6649826	0.001000	0.12720	0.138000	0.22173	0.985000	0.73830	-2.311000	0.01128	-1.699000	0.01416	-0.275000	0.10095	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	0		2	2	2	0		0	0	136		136	130	1	2.060000	-3.143410	1	0.170000	NM_015274			160	159		822	812	1		1	1		0	0	136	0		1	1	0	32	0	159	0	160	822
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T	rs372236715	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	411					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		17883	0.0		0.0	False		,,,				2504	0.002					ENST00000285599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1231-1233)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	1,4403		0,1,2201	32.0	37.0	35.0		1231	4.4	1.0	4		35	0,8594		0,0,4297	no	missense	MAN2B2	NM_015274.1	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	411/1010	6599013	1,12997	2202	4297	6499	SO:0001583	missense	23324	0	0					g.chr4:6599013C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1231C>T	chr4.hg19:g.6599013C>T	ENSP00000285599:p.Arg411Cys	0					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	p.R411C	NM_015274.1	NP_056089.1	1	2	3	1.998139	Q9Y2E5	MA2B2_HUMAN		8	1267	+			Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	1	1	hg19	c.1231C>T	CCDS33951.1	1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900586	0.72754	2.27E-4	0.0	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.77358	-1.09;-1.09	5.27	4.42	0.53409	5.27	4.42	0.53409	Glycoside hydrolase, family 38, central domain (2);	0.171581	0.51477	D	0.000090	D	0.90400	0.6995	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90863	0.4740	10	0.87932	D	0	-28.4917	8.4584	0.32912	0.1536:0.7633:0.0:0.0831	.	360;411;411	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	411;360	ENSP00000285599:R411C;ENSP00000423129:R360C	ENSP00000285599:R411C	R	+	1	0	0	MAN2B2	6649914	6649914	0.907000	0.30839	1.000000	0.80357	0.968000	0.65278	1.407000	0.34657	1.195000	0.43115	0.643000	0.83706	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_015274			92	91		390	385	0		1	1		0	0	69	0		1	1	0	19	0	122	0	92	390
KIAA0232	9778	broad.mit.edu	37	4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	212							ATP binding (GO:0005524)			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						ATCATCCACAGCCCCACCAGC	0.463																																						ENST00000307659.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(634-636)Gcc>Tcc		KIAA0232							115.0	120.0	118.0					4																	6862743		2046	4199	6245	SO:0001583	missense	9778	0	0					g.chr4:6862743G>T	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.634G>T	chr4.hg19:g.6862743G>T	ENSP00000303928:p.Ala212Ser	0					KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	p.A212S	NM_014743.2	NP_055558.2	1	2	3	1.998139	Q92628	K0232_HUMAN		7	1089	+			A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	1	1	hg19	c.634G>T	CCDS43209.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059173	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.106608	0.64402	D	0.000005	T	0.53818	0.1820	N	0.24115	0.695	0.39144	D	0.962104	P	0.37370	0.592	B	0.42771	0.397	T	0.60791	-0.7193	9	0.72032	D	0.01	-7.13	19.4461	0.94847	0.0:0.0:1.0:0.0	.	212	Q92628	K0232_HUMAN	S	212	.	ENSP00000303928:A212S	A	+	1	0	0	KIAA0232	6913644	6913644	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.409000	0.80053	2.603000	0.88011	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-4.933671	1	0.170000	NM_014743			122	118		394	381	1		1	1		0	0	114	0		1	9.999997e-01	0	17	0	55	0	122	394
KIAA0232	9778	broad.mit.edu	37	4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	592							ATP binding (GO:0005524)			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						TCAGTTTTGGGAGTGCTGTTC	0.522																																						ENST00000307659.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1774-1776)Gag>Aag		KIAA0232							177.0	165.0	169.0					4																	6863883		1981	4170	6151	SO:0001583	missense	9778	0	0					g.chr4:6863883G>A	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.1774G>A	chr4.hg19:g.6863883G>A	ENSP00000303928:p.Glu592Lys	0					KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	p.E592K	NM_014743.2	NP_055558.2	1	2	3	1.998139	Q92628	K0232_HUMAN		7	2229	+			A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	1	1	hg19	c.1774G>A	CCDS43209.1	1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875666	0.72180	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.159069	0.56097	D	0.000028	T	0.61565	0.2357	M	0.64997	1.995	0.80722	D	1	P	0.46142	0.873	B	0.42361	0.385	T	0.66528	-0.5901	9	0.66056	D	0.02	-25.0728	19.8218	0.96599	0.0:0.0:1.0:0.0	.	592	Q92628	K0232_HUMAN	K	592	.	ENSP00000303928:E592K	E	+	1	0	0	KIAA0232	6914784	6914784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.678000	0.91216	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-3.178119	1	0.170000	NM_014743			86	83		408	401	1		1	1		0	0	98	0		1	9.999741e-01	0	25	0	49	0	86	408
KIAA0232	9778	broad.mit.edu	37	4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	684							ATP binding (GO:0005524)			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						GCTTGGGAAAACACAGTCTAG	0.348																																						ENST00000307659.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2050-2052)Aca>Gca		KIAA0232							65.0	61.0	62.0					4																	6864159		1839	4088	5927	SO:0001583	missense	9778	0	0					g.chr4:6864159A>G	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.2050A>G	chr4.hg19:g.6864159A>G	ENSP00000303928:p.Thr684Ala	0					KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	p.T684A	NM_014743.2	NP_055558.2	1	2	3	1.998139	Q92628	K0232_HUMAN		7	2505	+			A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	1	1	hg19	c.2050A>G	CCDS43209.1	1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809461	0.70797	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.047140	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62723	1.935	0.54753	D	0.999986	P	0.51147	0.942	P	0.50659	0.647	T	0.70189	-0.4940	9	0.72032	D	0.01	-18.0415	16.0174	0.80450	1.0:0.0:0.0:0.0	.	684	Q92628	K0232_HUMAN	A	684	.	ENSP00000303928:T684A	T	+	1	0	0	KIAA0232	6915060	6915060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.811000	0.91954	2.186000	0.69663	0.533000	0.62120	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.998280	1	0.170000	NM_014743			36	36		145	139	1		1	1		0	0	41	0		1	9.999952e-01	0	19	0	62	0	36	145
KIAA0232	9778	broad.mit.edu	37	4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1051							ATP binding (GO:0005524)			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						ATTTTCACAAGTTCTTCATGT	0.398																																						ENST00000307659.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3151-3153)Gtt>Att		KIAA0232							81.0	75.0	77.0					4																	6865260		1855	4100	5955	SO:0001583	missense	9778	0	0					g.chr4:6865260G>A	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.3151G>A	chr4.hg19:g.6865260G>A	ENSP00000303928:p.Val1051Ile	0					KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	p.V1051I	NM_014743.2	NP_055558.2	1	2	3	1.998139	Q92628	K0232_HUMAN		7	3606	+			A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	1	1	hg19	c.3151G>A	CCDS43209.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710692	0.68730	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.64997	1.995	0.58432	D	0.999997	D	0.60575	0.988	P	0.59487	0.858	T	0.77571	-0.2538	9	0.87932	D	0	-26.2537	18.8694	0.92306	0.0:0.0:1.0:0.0	.	1051	Q92628	K0232_HUMAN	I	1051	.	ENSP00000303928:V1051I	V	+	1	0	0	KIAA0232	6916161	6916161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.765000	0.95021	0.655000	0.94253	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_014743			72	70		280	279	1		1	1		0	0	72	0		1	9.999951e-01	0	17	0	55	0	72	280
TBC1D14	57533	broad.mit.edu	37	4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	72					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657																																						ENST00000409757.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(214-216)Gag>Aag		TBC1 domain family, member 14							42.0	47.0	45.0					4																	6925330		2203	4300	6503	SO:0001583	missense	57533	0	0					g.chr4:6925330G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.214G>A	chr4.hg19:g.6925330G>A	ENSP00000386921:p.Glu72Lys	0					TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	p.E72K	NM_020773.2	NP_065824.2	1	2	3	1.998139	Q9P2M4	TBC14_HUMAN		2	338	+			B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	1	1	hg19	c.214G>A	CCDS3394.2	1	.	.	.	.	.	.	.	.	.	.	G	35	5.456469	0.96223	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.61627	0.09;2.89;2.89	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69529	-0.5121	10	0.59425	D	0.04	-28.4738	17.0989	0.86644	0.0:0.0:1.0:0.0	.	72	Q9P2M4	TBC14_HUMAN	K	72	ENSP00000414951:E72K;ENSP00000404041:E72K;ENSP00000386921:E72K	ENSP00000386921:E72K	E	+	1	0	0	TBC1D14	6976231	6976231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.256000	0.89848	2.519000	0.84933	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_020773			83	80		340	335	1		1	1		0	0	76	0		1	9.999782e-01	0	14	0	52	0	83	340
TBC1D14	57533	broad.mit.edu	37	4	7008409	7008409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000409757.4	+	9	1526	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000448507.1_Silent_p.L468L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000410031.1_Silent_p.L240L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	468	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388																																						ENST00000409757.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(1402-1404)Ctg>Ttg		TBC1 domain family, member 14							112.0	110.0	111.0					4																	7008409		2203	4300	6503	SO:0001819	synonymous_variant	57533	0	0					g.chr4:7008409C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1402C>T	chr4.hg19:g.7008409C>T		0					TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000448507.1_Silent_p.L468L	p.L468L	NM_020773.2	NP_065824.2	1	2	3	1.998139	Q9P2M4	TBC14_HUMAN		9	1526	+			B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	1	1	hg19	c.1402C>T	CCDS3394.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_020773			45	43		246	238	1		1	1		0	0	63	0		1	9.999999e-01	0	30	0	105	0	45	246
CCDC96	257236	broad.mit.edu	37	4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701																																						ENST00000310085.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(418-420)ttC>ttA		coiled-coil domain containing 96							25.0	27.0	26.0					4																	7044246		2201	4299	6500	SO:0001583	missense	257236	0	0					g.chr4:7044246G>T	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.420C>A	chr4.hg19:g.7044246G>T	ENSP00000309285:p.Phe140Leu	0					TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	p.F140L	NM_153376.2	NP_699207.1	1	2	3	1.998139	Q2M329	CCD96_HUMAN		1	482	-			Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	1	1	hg19	c.420C>A	CCDS3395.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898438	0.33535	.	.	ENSG00000173013	ENST00000310085	T	0.47177	0.85	3.43	-2.32	0.06745	3.43	-2.32	0.06745	.	.	.	.	.	T	0.24586	0.0596	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.27785	T	0.31	-0.006	2.5398	0.04722	0.2174:0.4506:0.2026:0.1294	.	140	Q2M329	CCD96_HUMAN	L	140	ENSP00000309285:F140L	ENSP00000309285:F140L	F	-	3	2	2	CCDC96	7095147	7095147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.314000	0.08716	-0.373000	0.07131	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_153376			44	42		219	213	0		1			0	0	40	0		1	0	0	0	0	0	0	44	219
GRPEL1	80273	broad.mit.edu	37	4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	209					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542																																						ENST00000264954.4	1.000000	0.360000	5.900000e-01	4.200000e-01	0.490000	0.527334	0.490000	0.490000																										0				5						c.(625-627)Gcc>Acc		GrpE-like 1, mitochondrial (E. coli)							137.0	152.0	147.0					4																	7062618		2203	4300	6503	SO:0001583	missense	80273	1	121412	32				g.chr4:7062618C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.625G>A	chr4.hg19:g.7062618C>T	ENSP00000264954:p.Ala209Thr	0					GRPEL1_ENST00000514056.1_5'Flank	p.A209T	NM_025196.2	NP_079472.1	1	2	3	1.998139	Q9HAV7	GRPE1_HUMAN		4	789	-			B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	1	1	hg19	c.625G>A	CCDS3396.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.734855	0.96865	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89449	0.3729	9	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	209	Q9HAV7	GRPE1_HUMAN	T	209;188	.	ENSP00000264954:A209T	A	-	1	0	0	GRPEL1	7113519	7113519	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.305000	0.78891	2.659000	0.90383	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	0	0	1		2	2	2	0		0	0	278		278	277	1	2.060000	-4.636711	1	0.170000	NM_025196			46	47		1061	1035	0		1	1		0	0	278	0		1	9.994711e-01	0	20	0	233	0	46	1061
GRPEL1	80273	broad.mit.edu	37	4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	110					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468																																						ENST00000264954.4	1.000000	0.240000	5.400000e-01	3.100000e-01	0.410000	0.451714	0.410000	0.390000																										0				5						c.(328-330)Gac>Aac		GrpE-like 1, mitochondrial (E. coli)							82.0	84.0	84.0					4																	7062915		2203	4300	6503	SO:0001583	missense	80273	0	0					g.chr4:7062915C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.328G>A	chr4.hg19:g.7062915C>T	ENSP00000264954:p.Asp110Asn	0					GRPEL1_ENST00000514056.1_5'UTR	p.D110N	NM_025196.2	NP_079472.1	1	2	3	1.998139	Q9HAV7	GRPE1_HUMAN		4	492	-			B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	1	1	hg19	c.328G>A	CCDS3396.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.162717	0.94727	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85677	0.1298	9	0.66056	D	0.02	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	110	Q9HAV7	GRPE1_HUMAN	N	110;89	.	ENSP00000264954:D110N	D	-	1	0	0	GRPEL1	7113816	7113816	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.312000	0.78968	2.590000	0.87494	0.462000	0.41574	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.550012	1	0.170000	NM_025196			16	15		457	451	0		1	1		0	0	92	0		9.999269e-01	9.985931e-01	0	23	0	284	0	16	457
SORCS2	57537	broad.mit.edu	37	4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T	rs201433688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	619					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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						GGGGACGAGACGCTGGTCATG	0.662																																						ENST00000507866.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.990876	0.990000	1.000000																										0				42						c.(1855-1857)aCg>aTg		sortilin-related VPS10 domain containing receptor 2		C	MET/THR	0,4272		0,0,2136	44.0	50.0	48.0		1856	2.7	1.0	4		48	4,8468		0,4,4232	yes	missense	SORCS2	NM_020777.2	81	0,4,6368	TT,TC,CC		0.0472,0.0,0.0314	probably-damaging	619/1160	7705999	4,12740	2136	4236	6372	SO:0001583	missense	57537	80	121032	44				g.chr4:7705999C>T	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.1856C>T	chr4.hg19:g.7705999C>T	ENSP00000422185:p.Thr619Met	0					SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	p.T619M	NM_020777.2	NP_065828.2	1	2	3	1.998139	Q96PQ0	SORC2_HUMAN		14	1965	+			Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	0	1	hg19	c.1856C>T	CCDS47008.1	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124635	0.37533	0.0	4.72E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30981	1.51;1.51	3.52	2.67	0.31697	3.52	2.67	0.31697	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.85197	2.74	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60031	-0.7342	10	0.87932	D	0	.	10.0073	0.41964	0.0:0.8942:0.0:0.1058	.	447;619	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	619;447	ENSP00000422185:T619M;ENSP00000329124:T447M	ENSP00000329124:T447M	T	+	2	0	0	SORCS2	7756899	7756899	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.211000	0.72182	0.799000	0.34018	-0.136000	0.14681	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.822250	1	0.170000	NM_020777			12	12		81	79	1		1	0		0	0	19	0		9.991797e-01	3.479571e-01	0	0	0	9	0	12	81
SORCS2	57537	broad.mit.edu	37	4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T	rs370833021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A713V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGATGAGGCGGTGCTCTTT	0.587																																						ENST00000507866.2	1.000000	0.110000	4.200000e-01	1.700000e-01	0.270000	0.324736	0.270000	0.250000																										1	Substitution - Missense(1)	p.A713V(1)	large_intestine(1)	42						c.(2587-2589)gCg>gTg		sortilin-related VPS10 domain containing receptor 2		C	VAL/ALA	0,4052		0,0,2026	46.0	48.0	47.0		2588	2.0	0.0	4		47	1,8347		0,1,4173	no	missense	SORCS2	NM_020777.2	64	0,1,6199	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	863/1160	7725587	1,12399	2026	4174	6200	SO:0001583	missense	57537	1	120906	37				g.chr4:7725587C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2588C>T	chr4.hg19:g.7725587C>T	ENSP00000422185:p.Ala863Val	0					SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	p.A863V	NM_020777.2	NP_065828.2	1	2	3	1.998139	Q96PQ0	SORC2_HUMAN		19	2697	+			Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	0	1	hg19	c.2588C>T	CCDS47008.1	0	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767768	0.31320	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68903	-0.36;-0.36	2.82	1.97	0.26223	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (3);	0.261105	0.28883	U	0.013831	T	0.62134	0.2403	M	0.65498	2.005	0.44899	D	0.997912	P;D	0.63880	0.895;0.993	B;B	0.43018	0.198;0.405	T	0.62973	-0.6740	10	0.56958	D	0.05	.	9.4847	0.38922	0.0:0.8919:0.0:0.1081	.	691;863	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	863;691	ENSP00000422185:A863V;ENSP00000329124:A691V	ENSP00000329124:A691V	A	+	2	0	0	SORCS2	7776487	7776487	1.000000	0.71417	0.028000	0.17463	0.002000	0.02628	6.946000	0.75953	0.399000	0.25367	-0.373000	0.07131	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-7.293903	1	0.170000	NM_020777			6	6		278	275	0		1	0		0	0	53	0		9.642604e-01	4.857080e-02	0	0	0	14	0	6	278
SORCS2	57537	broad.mit.edu	37	4	7731317	7731317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	ENST00000507866.2	+	23	3095	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	996					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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						CCCGCAGGAGACCAGCGTCCC	0.627																																						ENST00000507866.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998063	0.990000	1.000000																										0				42						c.(2986-2988)Acc>Gcc		sortilin-related VPS10 domain containing receptor 2							37.0	45.0	42.0					4																	7731317		2032	4200	6232	SO:0001583	missense	57537	0	0					g.chr4:7731317A>G	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.2986A>G	chr4.hg19:g.7731317A>G	ENSP00000422185:p.Thr996Ala	0					SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	p.T996A	NM_020777.2	NP_065828.2	1	2	3	1.998139	Q96PQ0	SORC2_HUMAN		23	3095	+			Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	0	1	hg19	c.2986A>G	CCDS47008.1	1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197626	0.38806	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.18657	2.2;2.26	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.067623	0.64402	D	0.000019	T	0.26011	0.0634	M	0.69358	2.11	0.50632	D	0.999888	P;P	0.47253	0.892;0.651	B;B	0.41466	0.358;0.266	T	0.09574	-1.0668	10	0.66056	D	0.02	.	13.2364	0.59971	1.0:0.0:0.0:0.0	.	824;996	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	996;824	ENSP00000422185:T996A;ENSP00000329124:T824A	ENSP00000329124:T824A	T	+	1	0	0	SORCS2	7782217	7782217	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	4.535000	0.60629	1.718000	0.51419	0.514000	0.50259	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-3.500096	1	0.170000	NM_020777			10	10		43	41	0		1	0		0	0	8	0		9.973228e-01	4.867078e-01	0	0	0	8	0	10	43
ABLIM2	84448	broad.mit.edu	37	4	8062713	8062713	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000341937.5	-	7	808	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000546334.1_Silent_p.G248G	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	248	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACATCTCTTCGCCTTCTGCAA	0.483																																						ENST00000341937.5	1.000000	0.770000	1	9.900000e-01	0.990000	0.985749	0.990000	1.000000																										0				25						c.(742-744)ggC>ggT		actin binding LIM protein family, member 2							54.0	56.0	56.0					4																	8062713		2071	4208	6279	SO:0001819	synonymous_variant	84448	1	120794	17				g.chr4:8062713G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.744C>T	chr4.hg19:g.8062713G>A		0					ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G	p.G248G	NM_001130084.1	NP_001123556.1	1	2	3	1.998139	Q6H8Q1	ABLM2_HUMAN		7	808	-			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	0	1	hg19	c.744C>T	CCDS47013.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-14.041770	1	0.170000	NM_001130083			7	7		40	40	1		1	1		0	0	9	0		9.834786e-01	9.771576e-01	0	16	0	27	0	7	40
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T	rs367620415	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													C|||	4	0.000798722	0.0023	0.0	5008	,	,		13118	0.001		0.0	False		,,,				2504	0.0					ENST00000341937.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998141	0.990000	1.000000																										0				25						c.(430-432)gcG>gcA		actin binding LIM protein family, member 2		C	,,,,,,	9,4097		0,9,2044	32.0	38.0	36.0		432,432,432,432,432,432,432	-5.3	0.0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC		0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant	84448	30	120948	43				g.chr4:8089918C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.432G>A	chr4.hg19:g.8089918C>T		0					ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A	p.A144A	NM_001130084.1	NP_001123556.1	1	2	3	1.998139	Q6H8Q1	ABLM2_HUMAN		4	496	-			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	1	1	hg19	c.432G>A	CCDS47013.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	0	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-4.755378	1	0.170000	NM_001130083			19	19		121	118	1		1	1		0	0	31	0		9.999928e-01	9.735867e-01	0	17	0	24	0	19	121
ABLIM2	84448	broad.mit.edu	37	4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000341937.5	-	2	125	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	21					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592																																						ENST00000341937.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				25						c.(61-63)Gcg>Acg		actin binding LIM protein family, member 2							39.0	45.0	43.0					4																	8108314		2113	4219	6332	SO:0001583	missense	84448	0	0					g.chr4:8108314C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.61G>A	chr4.hg19:g.8108314C>T	ENSP00000342813:p.Ala21Thr	0					ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T	p.A21T	NM_001130084.1	NP_001123556.1	1	2	3	1.998139	Q6H8Q1	ABLM2_HUMAN		2	125	-			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	1	1	hg19	c.61G>A	CCDS47013.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768134	0.31320	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.32753	1.59;1.85;1.78;1.59;1.77;1.85;1.78;1.53;1.6;1.44	4.15	3.3	0.37823	4.15	3.3	0.37823	.	0.171361	0.40385	N	0.001104	T	0.39759	0.1090	L	0.47716	1.5	0.80722	D	1	P;P;P;P;D;B;D;B	0.63880	0.722;0.716;0.655;0.581;0.993;0.278;0.965;0.446	B;B;B;B;P;B;P;B	0.58172	0.08;0.407;0.165;0.287;0.834;0.15;0.637;0.15	T	0.09228	-1.0684	10	0.27082	T	0.32	.	12.5547	0.56246	0.1678:0.8322:0.0:0.0	.	26;21;21;21;21;21;21;21	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	21	ENSP00000354887:A21T;ENSP00000296372:A21T;ENSP00000441255:A21T;ENSP00000444365:A21T;ENSP00000393511:A21T;ENSP00000342813:A21T;ENSP00000355003:A21T;ENSP00000384658:A21T;ENSP00000421283:A21T;ENSP00000389410:A21T	ENSP00000296372:A21T	A	-	1	0	0	ABLIM2	8159214	8159214	0.014000	0.17966	0.957000	0.39632	0.118000	0.20060	1.027000	0.30115	1.079000	0.41038	0.462000	0.41574	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_001130083			20	20		76	75	1		1	1		0	0	18	0		9.999977e-01	9.507014e-01	0	10	0	12	0	20	76
SH3TC1	54436	broad.mit.edu	37	4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000245105.3	+	9	1055	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	330	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000245105.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(988-990)Gac>Aac		SH3 domain and tetratricopeptide repeats 1							51.0	56.0	54.0					4																	8221133		2202	4300	6502	SO:0001583	missense	54436	0	0					g.chr4:8221133G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.988G>A	chr4.hg19:g.8221133G>A	ENSP00000245105:p.Asp330Asn	0					SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	p.D330N	NM_018986.3	NP_061859	1	2	3	1.998139	Q8TE82	S3TC1_HUMAN		9	1055	+			Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	1	1	hg19	c.988G>A	CCDS3399.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710603	0.68730	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.27104	1.69;1.69;1.69	4.21	4.21	0.49690	4.21	4.21	0.49690	Src homology-3 domain (3);	0.140683	0.45606	D	0.000346	T	0.48295	0.1492	M	0.67397	2.05	0.29588	N	0.848666	D	0.89917	1.0	D	0.87578	0.998	T	0.49744	-0.8907	10	0.87932	D	0	-26.9103	13.7276	0.62767	0.0:0.0:1.0:0.0	.	330	Q8TE82	S3TC1_HUMAN	N	68;330;254;159;139	ENSP00000245105:D330N;ENSP00000441045:D254N;ENSP00000426035:D139N	ENSP00000245105:D330N	D	+	1	0	0	SH3TC1	8272033	8272033	1.000000	0.71417	0.039000	0.18376	0.452000	0.32318	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1		21	2	2	0		0	1	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_018986			102	101		406	400	1		1	1		0	0	76	0		1	9.985248e-01	0	4	0	37	0	102	406
SH3TC1	54436	broad.mit.edu	37	4	8228996	8228996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	ENST00000245105.3	+	12	1642	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.W449*|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	525										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGCCGTGGCTGAGCAGCG	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000245105.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998049	0.990000	1.000000																										0				33						c.(1573-1575)tgG>tgA		SH3 domain and tetratricopeptide repeats 1							12.0	12.0	12.0					4																	8228996		2186	4283	6469	SO:0001587	stop_gained	54436	0	0					g.chr4:8228996G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1575G>A	chr4.hg19:g.8228996G>A	ENSP00000245105:p.Trp525*	0					SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.W449*	p.W525*	NM_018986.3	NP_061859	1	2	3	1.998139	Q8TE82	S3TC1_HUMAN		12	1642	+			Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	0	1	hg19	c.1575G>A	CCDS3399.1	1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984784	0.35036	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.66	-2.8	0.05823	4.66	-2.8	0.05823	.	1.420050	0.04144	N	0.320109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.6626	3.8624	0.09002	0.0804:0.3468:0.1596:0.4133	.	.	.	.	X	263;525;449;354	.	ENSP00000245105:W525X	W	+	3	0	0	SH3TC1	8279896	8279896	0.190000	0.23276	0.001000	0.08648	0.018000	0.09664	0.169000	0.16641	-0.229000	0.09854	0.561000	0.74099	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_018986			17	16		104	102	0		1	1		0	0	20	0		9.999720e-01	9.852836e-01	0	4	0	42	0	17	104
SH3TC1	54436	broad.mit.edu	37	4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000245105.3	+	12	2346	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	760										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692																																					NSCLC(145;2298 2623 35616 37297)	ENST00000245105.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2278-2280)aGc>aTc		SH3 domain and tetratricopeptide repeats 1							35.0	33.0	34.0					4																	8229700		2202	4299	6501	SO:0001583	missense	54436	0	0					g.chr4:8229700G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2279G>T	chr4.hg19:g.8229700G>T	ENSP00000245105:p.Ser760Ile	0					SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	p.S760I	NM_018986.3	NP_061859	1	2	3	1.998139	Q8TE82	S3TC1_HUMAN		12	2346	+			Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	1	1	hg19	c.2279G>T	CCDS3399.1	1	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453765	0.04540	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.36;-1.01	4.37	1.16	0.20824	4.37	1.16	0.20824	.	1.375830	0.04225	N	0.334160	T	0.62636	0.2444	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.45220	-0.9276	10	0.31617	T	0.26	-5.0404	1.8949	0.03255	0.1975:0.1081:0.4473:0.247	.	760	Q8TE82	S3TC1_HUMAN	I	498;760;684;589	ENSP00000245105:S760I;ENSP00000441045:S684I	ENSP00000245105:S760I	S	+	2	0	0	SH3TC1	8280600	8280600	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.102000	0.15272	0.302000	0.22762	0.462000	0.41574	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_018986			64	63		274	271	1		1	1		0	0	55	0		1	9.986407e-01	0	4	0	41	0	64	274
SH3TC1	54436	broad.mit.edu	37	4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000245105.3	+	12	2510	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	815										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000245105.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2443-2445)Gcc>Tcc		SH3 domain and tetratricopeptide repeats 1							46.0	42.0	43.0					4																	8229864		2202	4297	6499	SO:0001583	missense	54436	0	0					g.chr4:8229864G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2443G>T	chr4.hg19:g.8229864G>T	ENSP00000245105:p.Ala815Ser	0					SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	p.A815S	NM_018986.3	NP_061859	1	2	3	1.998139	Q8TE82	S3TC1_HUMAN		12	2510	+			Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	1	1	hg19	c.2443G>T	CCDS3399.1	1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273038	0.01421	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.72835	-0.69;-0.69	4.32	1.39	0.22231	4.32	1.39	0.22231	Tetratricopeptide-like helical (1);	0.563940	0.18719	N	0.133078	T	0.48804	0.1520	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15549	-1.0433	10	0.19147	T	0.46	-6.7967	0.7923	0.01059	0.1778:0.2438:0.2871:0.2913	.	815	Q8TE82	S3TC1_HUMAN	S	553;815;739;644	ENSP00000245105:A815S;ENSP00000441045:A739S	ENSP00000245105:A815S	A	+	1	0	0	SH3TC1	8280764	8280764	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.279000	0.08479	0.278000	0.22164	-0.475000	0.04921	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_018986			39	39		155	151	1		1	1		0	0	30	0		1	9.991114e-01	0	3	0	43	0	39	155
HTRA3	94031	broad.mit.edu	37	4	8284228	8284228	+	Silent	SNP	C	C	T	rs372926582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8284228C>T	ENST00000307358.2	+	2	654	c.450C>T	c.(448-450)atC>atT	p.I150I	HTRA3_ENST00000382512.3_Silent_p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	150					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)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGAGAAGATCGCACCAGCCG	0.622																																						ENST00000307358.2	1.000000	0.160000	6.100000e-01	2.600000e-01	0.400000	0.445089	0.400000	0.350000																										0				18						c.(448-450)atC>atT		HtrA serine peptidase 3							106.0	83.0	91.0					4																	8284228		2203	4300	6503	SO:0001819	synonymous_variant	94031	4	121408	37				g.chr4:8284228C>T	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.450C>T	chr4.hg19:g.8284228C>T		0					HTRA3_ENST00000382512.3_Silent_p.I150I	p.I150I	NM_053044.3	NP_444272.1	1	2	3	1.998139	P83110	HTRA3_HUMAN		2	654	+			Q7Z7A2	Silent	SNP	ENST00000307358.2	0	1	hg19	c.450C>T	CCDS3400.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	0	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-7.860055	1	0.170000	NM_053044			6	6		188	185	0		1	0		0	0	35	0		9.639860e-01	9.992589e-01	0	0	0	504	0	6	188
HTRA3	94031	broad.mit.edu	37	4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	226	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GACAAGAAGTCGGACATTGCC	0.622																																						ENST00000307358.2	1.000000	0.280000	7.200000e-01	3.900000e-01	0.520000	0.562029	0.520000	0.500000																										0				18						c.(676-678)tCg>tTg		HtrA serine peptidase 3							73.0	61.0	65.0					4																	8288479		2203	4300	6503	SO:0001583	missense	94031	0	0					g.chr4:8288479C>T	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.677C>T	chr4.hg19:g.8288479C>T	ENSP00000303766:p.Ser226Leu	0					HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	p.S226L	NM_053044.3	NP_444272.1	1	2	3	1.998139	P83110	HTRA3_HUMAN		3	881	+			Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	1	1	hg19	c.677C>T	CCDS3400.1	0	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612385	0.28712	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.86030	-2.06;-2.06	4.08	3.23	0.37069	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000002	T	0.77758	0.4178	L	0.39692	1.235	0.80722	D	1	B;B	0.19583	0.002;0.037	B;B	0.17098	0.006;0.017	T	0.69435	-0.5146	10	0.27785	T	0.31	-14.0686	11.5947	0.50966	0.0:0.9107:0.0:0.0893	.	226;226	P83110;P83110-2	HTRA3_HUMAN;.	L	226	ENSP00000303766:S226L;ENSP00000371952:S226L	ENSP00000303766:S226L	S	+	2	0	0	HTRA3	8339379	8339379	0.999000	0.42202	0.764000	0.31436	0.731000	0.41821	4.413000	0.59795	0.707000	0.31934	0.462000	0.41574	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-13.546010	1	0.170000	NM_053044			12	12		268	267	0		1	0		0	0	46	0		9.991530e-01	1	0	1	0	1054	0	12	268
ACOX3	8310	broad.mit.edu	37	4	8390958	8390958	+	Silent	SNP	G	G	A	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000503233.1_Silent_p.P493P|ACOX3_ENST00000413009.2_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	493					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAGGATGCCGGGATAGGCGT	0.552																																						ENST00000356406.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1477-1479)ccC>ccT		acyl-CoA oxidase 3, pristanoyl		G	,	1,4405	2.1+/-5.4	0,1,2202	78.0	73.0	75.0		1479,1479	-5.8	0.0	4	dbSNP_132	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	493/625,493/701	8390958	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8310	7	121410	39				g.chr4:8390958G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1479C>T	chr4.hg19:g.8390958G>A		0					ACOX3_ENST00000503233.1_Silent_p.P493P|ACOX3_ENST00000413009.2_Silent_p.P493P	p.P493P	NM_003501.2	NP_003492.2	1	2	3	1.998139	O15254	ACOX3_HUMAN		13	1556	-			Q96AJ8	Silent	SNP	ENST00000356406.5	1	1	hg19	c.1479C>T	CCDS3401.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.521419	1	0.170000				30	29		108	108	1		1	1		0	0	30	0		1	9.998652e-01	0	17	0	38	0	30	108
ACOX3	8310	broad.mit.edu	37	4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	362					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572																																						ENST00000356406.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1084-1086)Gct>Act		acyl-CoA oxidase 3, pristanoyl							67.0	62.0	64.0					4																	8396442		2203	4300	6503	SO:0001583	missense	8310	0	0					g.chr4:8396442C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1084G>A	chr4.hg19:g.8396442C>T	ENSP00000348775:p.Ala362Thr	0					ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T	p.A362T	NM_003501.2	NP_003492.2	1	2	3	1.998139	O15254	ACOX3_HUMAN		10	1161	-			Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	1	1	hg19	c.1084G>A	CCDS3401.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772563	0.49680	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96104	-3.91;-3.91;-3.91	4.31	4.31	0.51392	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.45581	1.43	0.80722	D	1	D;D;D	0.60575	0.974;0.985;0.988	P;P;P	0.61722	0.677;0.828;0.893	D	0.93855	0.7148	10	0.20519	T	0.43	-22.3756	16.0751	0.80962	0.0:1.0:0.0:0.0	.	362;362;362	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	362	ENSP00000413994:A362T;ENSP00000348775:A362T;ENSP00000421625:A362T	ENSP00000348775:A362T	A	-	1	0	0	ACOX3	8447342	8447342	1.000000	0.71417	0.235000	0.24058	0.058000	0.15608	6.375000	0.73137	2.395000	0.81488	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				35	35		115	114	1		1	1		0	0	34	0		1	9.999596e-01	0	16	0	40	0	35	115
CPZ	8532	broad.mit.edu	37	4	8616132	8616132	+	Silent	SNP	G	G	A	rs376761004		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000360986.4	+	9	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	CPZ_ENST00000315782.6_Silent_p.T459T|CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000382480.2_Silent_p.T333T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	470					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.001					ENST00000360986.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1408-1410)acG>acA		carboxypeptidase Z		G	,,	0,4406		0,0,2203	154.0	134.0	141.0		1410,999,1377	-9.5	0.0	4		141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	470/653,333/516,459/642	8616132	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8532	11	121410	42				g.chr4:8616132G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1410G>A	chr4.hg19:g.8616132G>A		0					CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000315782.6_Silent_p.T459T|CPZ_ENST00000382480.2_Silent_p.T333T	p.T470T	NM_001014447.2	NP_001014447	1	2	3	1.998139	Q66K79	CBPZ_HUMAN		9	1584	+			O00520|Q96MX2	Silent	SNP	ENST00000360986.4	1	1	hg19	c.1410G>A	CCDS33953.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.575222	1	0.170000	NM_003652			75	73		339	336	1		1	0		0	0	77	0		1	1	0	0	0	174	0	75	339
CPZ	8532	broad.mit.edu	37	4	8620238	8620238	+	Missense_Mutation	SNP	G	G	A	rs143243881	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8620238G>A	ENST00000360986.4	+	10	1760	c.1586G>A	c.(1585-1587)cGc>cAc	p.R529H	CPZ_ENST00000315782.6_Missense_Mutation_p.R518H|CPZ_ENST00000429646.2_Missense_Mutation_p.R137H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	529					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGGCATTCGCCACGACATC	0.597													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000360986.4	1.000000	0.150000	5.800000e-01	2.500000e-01	0.380000	0.430229	0.380000	0.350000																										0				46						c.(1585-1587)cGc>cAc		carboxypeptidase Z		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	104.0	90.0	94.0		1586,1175,1553	4.3	1.0	4	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	529/653,392/516,518/642	8620238	2,13004	2203	4300	6503	SO:0001583	missense	8532	0	0					g.chr4:8620238G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1586G>A	chr4.hg19:g.8620238G>A	ENSP00000354255:p.Arg529His	0					CPZ_ENST00000429646.2_Missense_Mutation_p.R137H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H	p.R529H	NM_001014447.2	NP_001014447	1	2	3	1.998139	Q66K79	CBPZ_HUMAN		10	1760	+			O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	0	1	hg19	c.1586G>A	CCDS33953.1	0	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.03	2.412400	0.42817	4.54E-4	0.0	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.43688	2.54;2.54;2.54;0.94	5.16	4.32	0.51571	5.16	4.32	0.51571	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.064294	0.64402	D	0.000008	T	0.54615	0.1869	L	0.49513	1.565	0.47245	D	0.999363	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.965	T	0.55496	-0.8132	10	0.62326	D	0.03	-41.6269	10.4572	0.44557	0.1709:0.0:0.8291:0.0	.	518;529	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	529;392;518;137	ENSP00000354255:R529H;ENSP00000371920:R392H;ENSP00000315074:R518H;ENSP00000403981:R137H	ENSP00000315074:R518H	R	+	2	0	0	CPZ	8671138	8671138	1.000000	0.71417	0.963000	0.40424	0.068000	0.16541	2.592000	0.46171	1.161000	0.42604	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	0	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-7.724830	1	0.170000	NM_003652			6	6		196	186	0		1	0		0	0	36	0		9.598384e-01	9.907318e-01	0	0	0	294	0	6	196
SLC2A9	56606	broad.mit.edu	37	4	9922170	9922170	+	Missense_Mutation	SNP	C	C	T	rs73225891	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9922170C>T	ENST00000264784.3	-	7	894	c.841G>A	c.(841-843)Gac>Aac	p.D281N	SLC2A9_ENST00000309065.3_Missense_Mutation_p.D252N|RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000506583.1_Missense_Mutation_p.D252N	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	281			D -> H (in dbSNP:rs73225891). {ECO:0000269|PubMed:18327256, ECO:0000269|PubMed:18327257}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGGGAAACGTCTGCTTTACCC	0.577																																						ENST00000264784.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				35						c.(841-843)Gac>Aac		solute carrier family 2 (facilitated glucose transporter), member 9	Losartan(DB00678)|Probenecid(DB01032)						55.0	49.0	51.0					4																	9922170		2203	4300	6503	SO:0001583	missense	56606	0	0					g.chr4:9922170C>T	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.841G>A	chr4.hg19:g.9922170C>T	ENSP00000264784:p.Asp281Asn	0					SLC2A9_ENST00000309065.3_Missense_Mutation_p.D252N|SLC2A9_ENST00000506583.1_Missense_Mutation_p.D252N|RP13-560N11.1_ENST00000504249.1_RNA	p.D281N	NM_020041.2	NP_064425.2	1	2	3	1.998139	Q9NRM0	GTR9_HUMAN		7	894	-			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	1	0	hg19	c.841G>A	CCDS3407.1	1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484875	0.44147	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76060	-0.99;-0.99;-0.99	5.2	4.35	0.52113	5.2	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050418	0.85682	D	0.000000	T	0.81978	0.4937	M	0.67625	2.065	0.43617	D	0.99599	P;P	0.41080	0.692;0.737	P;P	0.55303	0.517;0.773	T	0.80883	-0.1183	9	.	.	.	.	14.7733	0.69696	0.0:0.8548:0.1452:0.0	.	252;281	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	N	252;281;252	ENSP00000422209:D252N;ENSP00000264784:D281N;ENSP00000311383:D252N	.	D	-	1	0	0	SLC2A9	9531268	9531268	0.999000	0.42202	0.012000	0.15200	0.003000	0.03518	4.335000	0.59298	1.167000	0.42706	0.650000	0.86243	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.563878	1	0.170000				35	35		190	185	1		1	1		0	0	55	0		1	8.730828e-01	0	2	0	20	0	35	190
SLC2A9	56606	broad.mit.edu	37	4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000264784.3	-	3	405	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T|SLC2A9_ENST00000506583.1_Missense_Mutation_p.A89T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	118					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCACCGATGGCGAATATGGAC	0.498																																						ENST00000264784.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(352-354)Gcc>Acc		solute carrier family 2 (facilitated glucose transporter), member 9	Losartan(DB00678)|Probenecid(DB01032)						128.0	109.0	115.0					4																	9998463		2203	4300	6503	SO:0001583	missense	56606	1	121412	39				g.chr4:9998463C>T	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.352G>A	chr4.hg19:g.9998463C>T	ENSP00000264784:p.Ala118Thr	0					SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T|SLC2A9_ENST00000506583.1_Missense_Mutation_p.A89T	p.A118T	NM_020041.2	NP_064425.2	1	2	3	1.998139	Q9NRM0	GTR9_HUMAN		3	405	-			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	1	1	hg19	c.352G>A	CCDS3407.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348115	0.82132	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;D;T;T	0.81499	-0.84;-1.5;-0.84;-0.84	5.21	5.21	0.72293	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.184799	0.47093	D	0.000259	D	0.85008	0.5599	L	0.46885	1.475	0.38926	D	0.95783	P;D	0.62365	0.95;0.991	P;D	0.65684	0.643;0.937	D	0.84646	0.0698	9	.	.	.	.	14.7852	0.69796	0.0:1.0:0.0:0.0	.	89;118	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	89;118;89;89	ENSP00000422209:A89T;ENSP00000264784:A118T;ENSP00000311383:A89T;ENSP00000426800:A89T	.	A	-	1	0	0	SLC2A9	9607561	9607561	0.995000	0.38212	0.993000	0.49108	0.958000	0.62258	1.740000	0.38228	2.643000	0.89663	0.644000	0.83932	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000				62	59		292	283	1		1	0		0	0	88	0		1	9.525800e-01	0	0	0	26	0	62	292
SLIT2	9353	broad.mit.edu	37	4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	737	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			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						CTTGGATACAGTCGTCCGATG	0.413																																						ENST00000504154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(2209-2211)Gtc>Ttc		slit homolog 2 (Drosophila)							318.0	296.0	303.0					4																	20544182		2203	4300	6503	SO:0001583	missense	9353	0	0					g.chr4:20544182G>T	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.2209G>T	chr4.hg19:g.20544182G>T	ENSP00000422591:p.Val737Phe	0					SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F	p.V737F	NM_004787.1	NP_004778.1	1	2	3	1.998139	O94813	SLIT2_HUMAN		21	2461	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	1	1	hg19	c.2209G>T	CCDS3426.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783288	0.70222	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.66	5.66	0.87406	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.87578	0.431;0.998	T	0.47736	-0.9094	10	0.72032	D	0.01	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	729;737	O94813-3;O94813	.;SLIT2_HUMAN	F	729;737;741;733;733	ENSP00000427548:V729F;ENSP00000422591:V737F;ENSP00000273739:V741F;ENSP00000422261:V733F	ENSP00000273739:V741F	V	+	1	0	0	SLIT2	20153280	20153280	1.000000	0.71417	0.213000	0.23690	0.243000	0.25628	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	0		2	2	2	0		0	0	233		233	229	1	2.060000	-20.000000	1	0.170000				259	255		1099	1071	1		1	1		0	0	233	0		1	9.988596e-01	0	3	0	41	0	259	1099
SLIT2	9353	broad.mit.edu	37	4	20550138	20550138	+	Silent	SNP	G	G	A	rs375099406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Silent_p.T795T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	791					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)			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						GAATAAGCACGCTTTCTAATC	0.368																																						ENST00000504154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(2371-2373)acG>acA		slit homolog 2 (Drosophila)							98.0	94.0	95.0					4																	20550138		2203	4300	6503	SO:0001819	synonymous_variant	9353	0	0					g.chr4:20550138G>A	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.2373G>A	chr4.hg19:g.20550138G>A		0					SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000503823.1_Silent_p.T783T	p.T791T	NM_004787.1	NP_004778.1	1	2	3	1.998139	O94813	SLIT2_HUMAN		23	2625	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	1	1	hg19	c.2373G>A	CCDS3426.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-3.494900	1	0.170000				43	43		187	184	1		1	0		0	0	46	0		1	9.946215e-01	0	0	0	38	0	43	187
SLIT2	9353	broad.mit.edu	37	4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A	rs368566618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	910					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)			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						TTTTCAGGTCCTGTGGATGTC	0.333																																						ENST00000504154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(2728-2730)cCt>cAt		slit homolog 2 (Drosophila)							181.0	183.0	182.0					4																	20568888		2203	4299	6502	SO:0001583	missense	9353	0	0					g.chr4:20568888C>A	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.2729C>A	chr4.hg19:g.20568888C>A	ENSP00000422591:p.Pro910His	0					SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H	p.P910H	NM_004787.1	NP_004778.1	1	2	3	1.998139	O94813	SLIT2_HUMAN		27	2981	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	1	1	hg19	c.2729C>A	CCDS3426.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418949	0.83559	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;T;D;D	0.88975	-1.54;-1.56;-1.47;-1.53;-2.45	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.101407	0.64402	D	0.000002	D	0.93562	0.7945	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.63381	0.914;0.823	D	0.90823	0.4710	10	0.17369	T	0.5	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	902;910	O94813-3;O94813	.;SLIT2_HUMAN	H	902;910;914;906;906;122	ENSP00000427548:P902H;ENSP00000422591:P910H;ENSP00000273739:P914H;ENSP00000422261:P906H;ENSP00000421975:P122H	ENSP00000273739:P914H	P	+	2	0	0	SLIT2	20177986	20177986	1.000000	0.71417	0.985000	0.45067	0.745000	0.42441	6.071000	0.71229	2.659000	0.90383	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-20.000000	1	0.170000				151	149		661	653	1		1	1		0	0	157	0		1	9.912749e-01	0	2	0	32	0	151	661
SLIT2	9353	broad.mit.edu	37	4	20597397	20597397	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20597397A>G	ENST00000504154.1	+	31	3512	c.3260A>G	c.(3259-3261)aAc>aGc	p.N1087S	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1087	EGF-like 5; calcium-binding. {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.N1087T(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						AAGTGTAAAAACGGAGCCCAC	0.468																																						ENST00000504154.1	1.000000	0.090000	2.600000e-01	1.300000e-01	0.180000	0.236588	0.180000	0.170000																										1	Substitution - Missense(1)	p.N1087T(1)	lung(1)	116						c.(3259-3261)aAc>aGc		slit homolog 2 (Drosophila)							187.0	173.0	178.0					4																	20597397		2203	4300	6503	SO:0001583	missense	9353	0	0					g.chr4:20597397A>G	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.3260A>G	chr4.hg19:g.20597397A>G	ENSP00000422591:p.Asn1087Ser	0					SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S	p.N1087S	NM_004787.1	NP_004778.1	1	2	3	1.998139	O94813	SLIT2_HUMAN		31	3512	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	0	1	hg19	c.3260A>G	CCDS3426.1	0	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532906	0.64972	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	6.17	6.17	0.99709	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.039534	0.85682	D	0.000000	D	0.96315	0.8798	M	0.85197	2.74	0.80722	D	1	P;P	0.40534	0.582;0.72	B;P	0.47941	0.17;0.562	D	0.96586	0.9434	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1079;1087	O94813-3;O94813	.;SLIT2_HUMAN	S	1079;1087;1100;1083;1083	ENSP00000427548:N1079S;ENSP00000422591:N1087S;ENSP00000273739:N1100S;ENSP00000422261:N1083S	ENSP00000273739:N1100S	N	+	2	0	0	SLIT2	20206495	20206495	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.048000	0.76606	2.371000	0.80710	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	0	0	1		2	2	2	0		0	0	169		169	165	1	2.060000	-3.225726	1	0.170000				10	10		663	655	0		1	0		0	0	169	0		9.967160e-01	1.306789e-01	0	0	0	38	0	10	663
SLIT2	9353	broad.mit.edu	37	4	20599956	20599956	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000273739.5_Silent_p.L1223L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1210	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)			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						CGGTAGAACTCTATCGGGGGC	0.473																																						ENST00000504154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(3628-3630)ctC>ctA		slit homolog 2 (Drosophila)							162.0	147.0	152.0					4																	20599956		2203	4300	6503	SO:0001819	synonymous_variant	9353	0	0					g.chr4:20599956C>A	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.3630C>A	chr4.hg19:g.20599956C>A		0					SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000503823.1_Silent_p.L1202L	p.L1210L	NM_004787.1	NP_004778.1	1	2	3	1.998139	O94813	SLIT2_HUMAN		33	3882	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	1	1	hg19	c.3630C>A	CCDS3426.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-3.502680	1	0.170000				126	125		498	492	1		1	1		0	0	124	0		1	9.998363e-01	0	5	0	47	0	126	498
PACRGL	133015	broad.mit.edu	37	4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000503585.1	+	3	537	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	49										endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383																																						ENST00000503585.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(145-147)gAg>gCg		PARK2 co-regulated-like							139.0	129.0	133.0					4																	20706376		2203	4300	6503	SO:0001583	missense	133015	0	0					g.chr4:20706376A>C	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.146A>C	chr4.hg19:g.20706376A>C	ENSP00000423881:p.Glu49Ala	0					PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A	p.E49A	NM_001258345.1	NP_001245274.1	1	2	3	1.998139	Q8N7B6	PACRL_HUMAN		3	537	+			B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	1	1	hg19	c.146A>C	CCDS58895.1	1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670657	0.67814	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	3.07	0.35406	5.56	3.07	0.35406	.	0.389405	0.26923	N	0.021802	T	0.29223	0.0727	L	0.54323	1.7	0.29518	N	0.853726	D;P;P;B;B;P	0.54601	0.967;0.605;0.799;0.264;0.104;0.675	P;B;B;B;B;B	0.45971	0.499;0.204;0.272;0.124;0.058;0.298	T	0.12889	-1.0530	9	0.10111	T	0.7	-6.607	4.8074	0.13326	0.7167:0.0:0.1419:0.1414	.	49;49;97;49;49;49	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	97;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49	.	ENSP00000295290:E49A	E	+	2	0	0	PACRGL	20315474	20315474	0.985000	0.35326	0.766000	0.31476	0.978000	0.69477	2.811000	0.47986	1.006000	0.39211	0.533000	0.62120	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_145048			87	83		423	412	1		1	1		0	0	99	0		1	9.996168e-01	0	34	0	24	0	87	423
KCNIP4	80333	broad.mit.edu	37	4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382152.2	-	5	559	c.392C>T	c.(391-393)gCa>gTa	p.A131V	PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.A106V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	131	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353																																						ENST00000382152.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(391-393)gCa>gTa		Kv channel interacting protein 4							117.0	107.0	111.0					4																	20751322		2203	4300	6503	SO:0001583	missense	80333	0	0					g.chr4:20751322G>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.392C>T	chr4.hg19:g.20751322G>A	ENSP00000371587:p.Ala131Val	0					KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000382148.3_Missense_Mutation_p.A106V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000382149.4_5'UTR	p.A131V	NM_025221.5	NP_079497.2	1	2	3	1.998139	Q6PIL6	KCIP4_HUMAN		5	559	-		Breast(46;0.134)	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	1	1	hg19	c.392C>T	CCDS43216.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409805	0.83340	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.6	5.6	0.85130	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.21097	0.63	0.80722	D	1	D;D;D;D	0.65815	0.973;0.987;0.987;0.995	P;P;P;P	0.60886	0.741;0.88;0.88;0.842	T	0.01345	-1.1379	10	0.06236	T	0.91	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	106;110;114;131	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	106;97;110;69;131;69;69	ENSP00000371583:A106V;ENSP00000399080:A97V;ENSP00000371585:A110V;ENSP00000371587:A131V;ENSP00000423257:A69V;ENSP00000351892:A69V	ENSP00000351892:A69V	A	-	2	0	0	KCNIP4	20360420	20360420	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	9.379000	0.97198	2.623000	0.88846	0.585000	0.79938	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_025221			36	36		156	156	1		1	0		0	0	42	0		1	3.716627e-02	0	1	0	1	0	36	156
KCNIP4	80333	broad.mit.edu	37	4	20852254	20852254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20852254C>A	ENST00000382152.2	-	3	367	c.200G>T	c.(199-201)aGg>aTg	p.R67M	KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R42M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	67	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGGCCGATGCCTGACGGTGGC	0.483																																						ENST00000382152.2	1.000000	0.270000	6.900000e-01	3.700000e-01	0.510000	0.543430	0.510000	0.480000																										0				13						c.(199-201)aGg>aTg		Kv channel interacting protein 4							69.0	68.0	68.0					4																	20852254		2203	4300	6503	SO:0001583	missense	80333	0	0					g.chr4:20852254C>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.200G>T	chr4.hg19:g.20852254C>A	ENSP00000371587:p.Arg67Met	0					KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R42M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000382149.4_5'UTR	p.R67M	NM_025221.5	NP_079497.2	1	2	3	1.998139	Q6PIL6	KCIP4_HUMAN		3	367	-		Breast(46;0.134)	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	0	1	hg19	c.200G>T	CCDS43216.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.181768	0.94885	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73152	-0.72;1.96;-0.72;1.96;-0.69;-0.69	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.205201	0.51477	D	0.000081	T	0.81034	0.4739	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.62365	0.981;0.991;0.991;0.991	P;P;P;P	0.50590	0.591;0.645;0.551;0.645	D	0.84538	0.0637	10	0.72032	D	0.01	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	42;46;50;67	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	M	42;33;46;5;67;5;5	ENSP00000371583:R42M;ENSP00000399080:R33M;ENSP00000371585:R46M;ENSP00000371587:R67M;ENSP00000423257:R5M;ENSP00000351892:R5M	ENSP00000351892:R5M	R	-	2	0	0	KCNIP4	20461352	20461352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-13.555870	1	0.170000	NM_025221			12	12		279	276	0		1			0	0	56	0		9.991138e-01	0	0	0	0	0	0	12	279
GPR125	166647	broad.mit.edu	37	4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1013					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)			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)				AGCCAAAGCCCCAAACATCCA	0.443																																						ENST00000334304.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3037-3039)gGg>gTg		G protein-coupled receptor 125							102.0	103.0	103.0					4																	22390256		2203	4300	6503	SO:0001583	missense	166647	0	0					g.chr4:22390256C>A	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.3038G>T	chr4.hg19:g.22390256C>A	ENSP00000334952:p.Gly1013Val	0					GPR125_ENST00000282943.5_5'UTR	p.G1013V	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		19	3307	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.3038G>T	CCDS33964.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404043	0.62288	.	.	ENSG00000152990	ENST00000334304	T	0.65732	-0.17	5.94	5.94	0.96194	5.94	5.94	0.96194	GPCR, family 2-like (1);	0.098598	0.64402	D	0.000001	T	0.77916	0.4202	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75484	0.986;0.852	T	0.76049	-0.3101	10	0.51188	T	0.08	-29.7383	20.3501	0.98811	0.0:1.0:0.0:0.0	.	870;1013	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1013	ENSP00000334952:G1013V	ENSP00000334952:G1013V	G	-	2	0	0	GPR125	21999354	21999354	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.597000	0.61062	2.807000	0.96579	0.650000	0.86243	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.020238	1	0.170000				55	55		264	258	1		1	1		0	0	67	0		1	9.999997e-01	0	22	0	88	0	55	264
GPR125	166647	broad.mit.edu	37	4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G	rs535821659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					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)			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)				TCCTGATGATTTATTTCGCCA	0.433																																						ENST00000334304.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2911-2913)Aat>Cat		G protein-coupled receptor 125							97.0	96.0	96.0					4																	22390383		2203	4300	6503	SO:0001583	missense	166647	0	0					g.chr4:22390383T>G	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.2911A>C	chr4.hg19:g.22390383T>G	ENSP00000334952:p.Asn971His	0					GPR125_ENST00000282943.5_5'UTR	p.N971H	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		19	3180	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.2911A>C	CCDS33964.1	1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607184	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.84	0.449	0.16619	5.84	0.449	0.16619	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.27731	0.0682	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.003;0.047	B;B	0.19391	0.005;0.025	T	0.13818	-1.0495	10	0.41790	T	0.15	-1.4819	5.9665	0.19328	0.0:0.1913:0.2328:0.5759	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	971	ENSP00000334952:N971H	ENSP00000334952:N971H	N	-	1	0	0	GPR125	21999481	21999481	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.505000	0.22642	-0.118000	0.11851	0.528000	0.53228	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				100	99		427	417	1		1	1		0	0	58	0		1	9.999876e-01	0	21	0	50	0	100	427
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	906					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.A906T(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)				CACTAGGGTGCGTTTGGCCGA	0.408																																						ENST00000334304.5	1.000000	0.860000	1	9.500000e-01	0.990000	0.982822	0.990000	1.000000																										1	Substitution - Missense(1)	p.A906T(1)	large_intestine(1)	56						c.(2716-2718)Gca>Aca		G protein-coupled receptor 125							199.0	211.0	207.0					4																	22390718		2203	4300	6503	SO:0001583	missense	166647	0	0					g.chr4:22390718C>T	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.2716G>A	chr4.hg19:g.22390718C>T	ENSP00000334952:p.Ala906Thr	0					GPR125_ENST00000282943.5_5'UTR	p.A906T	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		18	2985	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.2716G>A	CCDS33964.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850785	0.71719	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.85	5.85	0.93711	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.39245	1.2	0.80722	D	1	B;D	0.56746	0.213;0.977	B;P	0.46110	0.064;0.504	T	0.36504	-0.9745	10	0.26408	T	0.33	-13.3325	15.7232	0.77732	0.1373:0.8627:0.0:0.0	.	763;906	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	906	ENSP00000334952:A906T	ENSP00000334952:A906T	A	-	1	0	0	GPR125	21999816	21999816	0.997000	0.39634	0.889000	0.34880	0.972000	0.66771	3.633000	0.54295	2.755000	0.94549	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1		2	2	2	0		0	0	240		240	238	1	2.060000	-19.999980	1	0.170000				106	107		1093	1064	0		1	1		0	0	240	0		1	9.908943e-01	0	7	0	68	0	106	1093
GPR125	166647	broad.mit.edu	37	4	22414813	22414813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414813C>T	ENST00000334304.5	-	14	2493	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	742	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			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)				ACCATTAAAACTGCATAGTTA	0.353																																						ENST00000334304.5	1.000000	0.170000	3.700000e-01	2.200000e-01	0.280000	0.331754	0.280000	0.280000																										0				56						c.(2224-2226)Gtt>Att		G protein-coupled receptor 125							173.0	172.0	172.0					4																	22414813		2203	4300	6503	SO:0001583	missense	166647	0	0					g.chr4:22414813C>T	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.2224G>A	chr4.hg19:g.22414813C>T	ENSP00000334952:p.Val742Ile	0					GPR125_ENST00000282943.5_5'UTR	p.V742I	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		14	2493	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.2224G>A	CCDS33964.1	0	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258243	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69435	-0.4	5.49	5.49	0.81192	5.49	5.49	0.81192	GPS domain (3);	0.130085	0.52532	D	0.000075	T	0.70124	0.3188	L	0.41492	1.28	0.80722	D	1	P;D	0.57899	0.686;0.981	B;P	0.54499	0.28;0.754	T	0.64782	-0.6326	10	0.22109	T	0.4	-30.6269	19.3671	0.94468	0.0:1.0:0.0:0.0	.	599;742	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	742	ENSP00000334952:V742I	ENSP00000334952:V742I	V	-	1	0	0	GPR125	22023911	22023911	0.971000	0.33674	0.850000	0.33497	0.712000	0.41017	2.219000	0.42899	2.555000	0.86185	0.650000	0.86243	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	0	0	1		2	2	2	0		0	0	176		176	173	1	2.060000	-3.297382	1	0.170000				21	21		863	845	0		1	0		0	0	176	0		9.999968e-01	4.109734e-01	0	0	0	57	0	21	863
GPR125	166647	broad.mit.edu	37	4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T	rs201944807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	691					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)			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)				TGCAATTCGACGCAGTGTCAC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0					ENST00000334304.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2071-2073)cGt>cAt		G protein-coupled receptor 125		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	105.0	106.0		2072	5.9	1.0	4		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	GPR125	NM_145290.2	29	0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461	probably-damaging	691/1322	22414965	6,13000	2203	4300	6503	SO:0001583	missense	166647	14	121408	44				g.chr4:22414965C>T	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.2072G>A	chr4.hg19:g.22414965C>T	ENSP00000334952:p.Arg691His	0					GPR125_ENST00000282943.5_5'UTR	p.R691H	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		14	2341	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.2072G>A	CCDS33964.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.434147	0.96150	6.81E-4	3.49E-4	ENSG00000152990	ENST00000334304	T	0.58060	0.36	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75733	-0.3214	10	0.72032	D	0.01	-35.5869	20.1991	0.98252	0.0:1.0:0.0:0.0	.	548;691	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	691	ENSP00000334952:R691H	ENSP00000334952:R691H	R	-	2	0	0	GPR125	22024063	22024063	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	5.592000	0.67543	2.775000	0.95449	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000				90	89		454	449	1		1	1		0	0	101	0		1	9.968627e-01	0	13	0	33	0	90	454
GPR125	166647	broad.mit.edu	37	4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	584					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)			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)				AGCTGCTTATCCAGGTTTCCC	0.448																																						ENST00000334304.5	1.000000	0.260000	4.500000e-01	3.100000e-01	0.370000	0.410439	0.370000	0.370000																										0				56						c.(1750-1752)Gat>Tat		G protein-coupled receptor 125							213.0	218.0	216.0					4																	22422568		2203	4300	6503	SO:0001583	missense	166647	0	0					g.chr4:22422568C>A	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.1750G>T	chr4.hg19:g.22422568C>A	ENSP00000334952:p.Asp584Tyr	0					GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y	p.D584Y	NM_145290.3	NP_660333.2	1	2	3	1.998139	Q8IWK6	GP125_HUMAN		12	2019	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	1	1	hg19	c.1750G>T	CCDS33964.1	0	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070604	0.76301	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.65364	0.42;-0.15	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.106348	0.64402	D	0.000006	T	0.77519	0.4142	M	0.61703	1.905	0.80722	D	1	B;D;D;P	0.76494	0.063;0.999;0.997;0.769	B;D;D;B	0.71414	0.05;0.973;0.923;0.384	T	0.79820	-0.1642	10	0.87932	D	0	-33.5045	18.8818	0.92358	0.0:1.0:0.0:0.0	.	459;584;358;584	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Y	584;358;584	ENSP00000334952:D584Y;ENSP00000421006:D584Y	ENSP00000334952:D584Y	D	-	1	0	0	GPR125	22031666	22031666	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.591000	0.74090	2.515000	0.84797	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	0	0	1		2	2	2	0		0	0	253		253	252	1	2.060000	-3.049541	1	0.170000				38	38		1184	1163	0		1	1		0	0	253	0		1	6.916064e-01	0	7	0	69	0	38	1184
GBA3	57733	broad.mit.edu	37	4	22737808	22737808	+	RNA	SNP	C	C	T	rs529839966		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000503442.1	+	0	354				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.T88K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGATGGGACGACAGGTTTC	0.413																																						ENST00000503442.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T88K(1)	lung(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							132.0	131.0	131.0					4																	22737808		1880	4112	5992			57733	0	0					g.chr4:22737808C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		chr4.hg19:g.22737808C>T		0					GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA		NM_001128432.2	NP_001121904.1	1	2	3	1.998139	Q9H227	GBA3_HUMAN		0	354	+			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000				126	126		538	528	0		1	0		0	0	120	0		1	3.659432e-02	0	0	0	2	0	126	538
GBA3	57733	broad.mit.edu	37	4	22749357	22749357	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAGGAAGCTGCTAAAAGA	0.428																																						ENST00000503442.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33								glucosidase, beta, acid 3 (gene/pseudogene)							133.0	131.0	131.0					4																	22749357		1902	4118	6020			57733	0	0					g.chr4:22749357C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		chr4.hg19:g.22749357C>A		0					GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA		NM_001128432.2	NP_001121904.1	1	2	3	1.998139	Q9H227	GBA3_HUMAN		0	377	+			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000				118	119		524	516	0		1	0		0	0	117	0		1	0	0	0	0	1	0	118	524
GBA3	57733	broad.mit.edu	37	4	22820391	22820391	+	RNA	SNP	C	C	T	rs186578587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000503442.1	+	0	425				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCATGGTCTCTTCTGGATAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18964	0.001		0.0	False		,,,				2504	0.0					ENST00000503442.1	1.000000	0.210000	7.800000e-01	3.400000e-01	0.520000	0.558554	0.520000	1.000000																										0				33								glucosidase, beta, acid 3 (gene/pseudogene)							83.0	74.0	77.0					4																	22820391		1869	4100	5969			57733	2	120786	33				g.chr4:22820391C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		chr4.hg19:g.22820391C>T		0					GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA		NM_001128432.2	NP_001121904.1	1	2	3	1.998139	Q9H227	GBA3_HUMAN		0	425	+			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	0	1	hg19			0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-9.014527	1	0.170000				6	6		142	139	0		1	0		0	0	28	0		9.637144e-01	0	0	0	0	1	0	6	142
PPARGC1A	10891	broad.mit.edu	37	4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	rs17847360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1729-1731)tCg>tTg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		G	LEU/SER	0,4406		0,0,2203	83.0	83.0	83.0		1730	6.2	1.0	4	dbSNP_123	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPARGC1A	NM_013261.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	577/799	23815376	2,13004	2203	4300	6503	SO:0001583	missense	10891	57	121408	48				g.chr4:23815376G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1730C>T	chr4.hg19:g.23815376G>A	ENSP00000264867:p.Ser577Leu	0					PPARGC1A_ENST00000509702.1_5'UTR	p.S577L	NM_013261.3	NP_037393.1	1	2	3	1.998139	Q9UBK2	PRGC1_HUMAN		8	1849	-		Breast(46;0.0503)	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	1	1	hg19	c.1730C>T	CCDS3429.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.23	3.786916	0.70337	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.48201	0.82	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.110926	0.64402	D	0.000005	T	0.72078	0.3416	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.69045	-0.5249	10	0.42905	T	0.14	-3.6221	20.8598	0.99761	0.0:0.0:1.0:0.0	rs17847360	577	Q9UBK2	PRGC1_HUMAN	L	577	ENSP00000264867:S577L	ENSP00000264867:S577L	S	-	2	0	0	PPARGC1A	23424474	23424474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-2.935939	1	0.170000	NM_013261			74	74		255	250	1		1	1		0	0	69	0		1	9.328102e-01	0	6	0	12	0	74	255
PPARGC1A	10891	broad.mit.edu	37	4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	530	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1588-1590)Tcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							146.0	139.0	142.0					4																	23815518		2203	4300	6503	SO:0001583	missense	10891	0	0					g.chr4:23815518A>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1588T>A	chr4.hg19:g.23815518A>T	ENSP00000264867:p.Ser530Thr	0					PPARGC1A_ENST00000509702.1_5'UTR	p.S530T	NM_013261.3	NP_037393.1	1	2	3	1.998139	Q9UBK2	PRGC1_HUMAN		8	1707	-		Breast(46;0.0503)	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	1	1	hg19	c.1588T>A	CCDS3429.1	1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618834	0.28801	.	.	ENSG00000109819	ENST00000264867	T	0.22539	1.95	6.16	3.67	0.42095	6.16	3.67	0.42095	.	0.316917	0.38272	N	0.001760	T	0.15262	0.0368	L	0.55481	1.735	0.80722	D	1	P	0.39782	0.688	B	0.33750	0.169	T	0.08806	-1.0704	10	0.15066	T	0.55	-0.2608	7.3919	0.26915	0.712:0.1518:0.1362:0.0	.	530	Q9UBK2	PRGC1_HUMAN	T	530	ENSP00000264867:S530T	ENSP00000264867:S530T	S	-	1	0	0	PPARGC1A	23424616	23424616	0.469000	0.25846	0.716000	0.30569	0.992000	0.81027	0.998000	0.29744	0.532000	0.28657	0.528000	0.53228	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_013261			109	109		513	502	1		1	1		0	0	89	0		1	8.475781e-01	0	2	0	16	0	109	513
PPARGC1A	10891	broad.mit.edu	37	4	23833186	23833186	+	Silent	SNP	C	C	T	rs369519960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	141					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(421-423)ccG>ccA		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		C		0,4406		0,0,2203	167.0	145.0	153.0		423	2.8	1.0	4		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPARGC1A	NM_013261.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/799	23833186	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10891	3	121412	37				g.chr4:23833186C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.423G>A	chr4.hg19:g.23833186C>T		0					PPARGC1A_ENST00000509702.1_5'UTR	p.P141P	NM_013261.3	NP_037393.1	1	2	3	1.998139	Q9UBK2	PRGC1_HUMAN		3	542	-		Breast(46;0.0503)	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	1	1	hg19	c.423G>A	CCDS3429.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-20.000000	1	0.170000	NM_013261			124	122		517	509	0		1	1		0	0	130	0		1	8.869579e-01	0	8	0	10	0	124	517
DHX15	1665	broad.mit.edu	37	4	24538792	24538792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					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)			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)				CAAAACACTGTGGGACTAAAC	0.507																																						ENST00000336812.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(1789-1791)ccA>ccG		DEAH (Asp-Glu-Ala-His) box helicase 15							110.0	93.0	99.0					4																	24538792		2203	4300	6503	SO:0001819	synonymous_variant	1665	0	0					g.chr4:24538792T>C	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.1791A>G	chr4.hg19:g.24538792T>C		0					DHX15_ENST00000508032.1_5'UTR	p.P597P	NM_001358.2	NP_001349.2	1	2	3	1.998139	O43143	DHX15_HUMAN		11	1947	-		Breast(46;0.0503)	Q9NQT7	Silent	SNP	ENST00000336812.4	1	1	hg19	c.1791A>G	CCDS33966.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_001358			28	28		104	104	1		1	1		0	0	28	0		1	1	0	67	0	189	0	28	104
DHX15	1665	broad.mit.edu	37	4	24543646	24543646	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1		DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						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)			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)				GATTGTAGACCTATTGGAATT	0.408																																						ENST00000336812.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.e8-1		DEAH (Asp-Glu-Ala-His) box helicase 15							70.0	70.0	70.0					4																	24543646		2203	4300	6503	SO:0001630	splice_region_variant	1665	0	0					g.chr4:24543646C>T	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.1336-1G>A	chr4.hg19:g.24543646C>T		0					DHX15_ENST00000508032.1_5'Flank		NM_001358.2	NP_001349.2	1	2	3	1.998139	O43143	DHX15_HUMAN		8	1492	-		Breast(46;0.0503)	Q9NQT7	Splice_Site	SNP	ENST00000336812.4	1	1	hg19		CCDS33966.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DHX15	24152744	24152744	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.069077	1	0.170000	NM_001358	Intron		40	40		199	198	1		1	0		0	0	67	0		1	0	0	1	0	0	0	40	199
DHX15	1665	broad.mit.edu	37	4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	51					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)			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)				ctccctctcTCGCTCTCTATC	0.448																																						ENST00000336812.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(151-153)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 15							178.0	155.0	163.0					4																	24578221		2203	4300	6503	SO:0001583	missense	1665	0	0					g.chr4:24578221C>T	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.152G>A	chr4.hg19:g.24578221C>T	ENSP00000336741:p.Arg51Gln	0						p.R51Q	NM_001358.2	NP_001349.2	1	2	3	1.998139	O43143	DHX15_HUMAN		2	308	-		Breast(46;0.0503)	Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	1	1	hg19	c.152G>A	CCDS33966.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507978	0.85282	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.62232	0.04	5.63	4.78	0.61160	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.30357	-0.9981	10	0.37606	T	0.19	-21.7171	14.6448	0.68754	0.0:0.9286:0.0:0.0714	.	51	O43143	DHX15_HUMAN	Q	51;40	ENSP00000336741:R51Q	ENSP00000336741:R51Q	R	-	2	0	0	DHX15	24187319	24187319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.652000	0.90054	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-4.021166	1	0.170000	NM_001358			66	61		231	225	1		1	1		0	0	49	0		1	1	0	87	0	195	0	66	231
CCDC149	91050	broad.mit.edu	37	4	24838984	24838984	+	Silent	SNP	G	G	A	rs58692972	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24838984G>A	ENST00000389609.4	-	7	671	c.528C>T	c.(526-528)gaC>gaT	p.D176D	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Silent_p.D176D|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	121										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGAAGCTCGTCCACAGAAG	0.527													G|||	54	0.0107827	0.0204	0.0216	5008	,	,		19046	0.001		0.007	False		,,,				2504	0.0041					ENST00000389609.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(526-528)gaC>gaT		coiled-coil domain containing 149		G	,	112,4294	85.8+/-124.5	0,112,2091	115.0	90.0	98.0		528,528	-6.7	0.8	4	dbSNP_129	98	51,8549	32.8+/-85.7	0,51,4249	no	coding-synonymous,coding-synonymous	CCDC149	NM_001130726.2,NM_173463.4	,	0,163,6340	AA,AG,GG		0.593,2.542,1.2533	,	176/530,176/530	24838984	163,12843	2203	4300	6503	SO:0001819	synonymous_variant	91050	917	121412	62				g.chr4:24838984G>A		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.528C>T	chr4.hg19:g.24838984G>A		0					CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Silent_p.D176D	p.D176D	NM_173463.4	NP_775734.2	1	2	3	1.998139	Q6ZUS6	CC149_HUMAN		7	671	-		Breast(46;0.173)	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	1	0	hg19	c.528C>T	CCDS33967.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	0	0	1		2	2	2	0		0	0	79		79	76	1	2.060000	-2.799555	1	0.170000	NM_173463			53	52		269	263	1		1	0		0	0	79	0		1	9.197983e-01	0	1	0	23	0	53	269
ZCCHC4	29063	broad.mit.edu	37	4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	377							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAGAAGGGTACAGGTAAGAT	0.383																																						ENST00000302874.4	1.000000	0.280000	9.300000e-01	4.300000e-01	0.630000	0.659597	0.630000	1.000000																										0				9						c.(1129-1131)tAc>tGc		zinc finger, CCHC domain containing 4							55.0	50.0	52.0					4																	25363599		1863	4104	5967	SO:0001583	missense	29063	0	0					g.chr4:25363599A>G	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.1130A>G	chr4.hg19:g.25363599A>G	ENSP00000303468:p.Tyr377Cys	0						p.Y377C	NM_024936.2	NP_079212.2	1	2	3	1.998139	Q9H5U6	ZCHC4_HUMAN		9	1154	+		Breast(46;0.0503)	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	1	1	hg19	c.1130A>G	CCDS43218.1	0	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210568	0.79240	.	.	ENSG00000168228	ENST00000302874	T	0.36520	1.25	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67612	-0.5626	10	0.87932	D	0	-9.4566	15.0981	0.72250	1.0:0.0:0.0:0.0	.	377	Q9H5U6	ZCHC4_HUMAN	C	377	ENSP00000303468:Y377C	ENSP00000303468:Y377C	Y	+	2	0	0	ZCCHC4	24972697	24972697	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.266000	0.75297	0.533000	0.62120	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-10.438740	1	0.170000				7	7		132	130	0		1	1		0	0	38	0		9.804829e-01	2.725855e-01	0	2	0	16	0	7	132
ZCCHC4	29063	broad.mit.edu	37	4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	505							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388																																						ENST00000302874.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1513-1515)gAa>gGa		zinc finger, CCHC domain containing 4							106.0	98.0	101.0					4																	25370758		1856	4120	5976	SO:0001583	missense	29063	0	0					g.chr4:25370758A>G	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.1514A>G	chr4.hg19:g.25370758A>G	ENSP00000303468:p.Glu505Gly	0						p.E505G	NM_024936.2	NP_079212.2	1	2	3	1.998139	Q9H5U6	ZCHC4_HUMAN		13	1538	+		Breast(46;0.0503)	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	1	1	hg19	c.1514A>G	CCDS43218.1	1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593813	0.46214	.	.	ENSG00000168228	ENST00000302874	T	0.32272	1.46	5.81	3.39	0.38822	5.81	3.39	0.38822	.	1.110990	0.06650	N	0.762600	T	0.23330	0.0564	N	0.22421	0.69	0.23144	N	0.998221	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	10	0.59425	D	0.04	3.3457	8.192	0.31374	0.8395:0.0:0.1605:0.0	.	505	Q9H5U6	ZCHC4_HUMAN	G	505	ENSP00000303468:E505G	ENSP00000303468:E505G	E	+	2	0	0	ZCCHC4	24979856	24979856	0.998000	0.40836	0.963000	0.40424	0.930000	0.56654	2.267000	0.43329	1.043000	0.40175	0.482000	0.46254	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				86	86		302	291	1		1	1		0	0	67	0		1	9.949755e-01	0	8	0	23	0	86	302
ANAPC4	29945	broad.mit.edu	37	4	25390499	25390499	+	Silent	SNP	C	C	T	rs140263991	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	170					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)			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)				TCTTGGGAGACGTCAGGTAAA	0.294																																						ENST00000315368.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999639	0.990000	1.000000																										0				27						c.(508-510)gaC>gaT		anaphase promoting complex subunit 4		C		0,4356		0,0,2178	43.0	48.0	46.0		510	-0.5	1.0	4	dbSNP_134	46	1,8565		0,1,4282	no	coding-synonymous	ANAPC4	NM_013367.2		0,1,6460	TT,TC,CC		0.0117,0.0,0.0077		170/809	25390499	1,12921	2178	4283	6461	SO:0001819	synonymous_variant	29945	2	121250	28				g.chr4:25390499C>T	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.510C>T	chr4.hg19:g.25390499C>T		0					ANAPC4_ENST00000510092.1_Silent_p.D170D	p.D170D	NM_013367.2	NP_037499.2	1	2	3	1.998139	Q9UJX5	APC4_HUMAN		7	652	+		Breast(46;0.0503)	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	1	1	hg19	c.510C>T	CCDS3434.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_013367			29	28		184	180	1		1	1		0	0	36	0		1	9.910552e-01	0	14	0	36	0	29	184
ANAPC4	29945	broad.mit.edu	37	4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	240					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)			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)				TGAAACTAATCTGTTGTACTC	0.358																																						ENST00000315368.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				27						c.(718-720)Ctg>Atg		anaphase promoting complex subunit 4							164.0	153.0	157.0					4																	25393972		2202	4300	6502	SO:0001583	missense	29945	0	0					g.chr4:25393972C>A	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.718C>A	chr4.hg19:g.25393972C>A	ENSP00000318775:p.Leu240Met	0					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	p.L240M	NM_013367.2	NP_037499.2	1	2	3	1.998139	Q9UJX5	APC4_HUMAN		10	860	+		Breast(46;0.0503)	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	1	1	hg19	c.718C>A	CCDS3434.1	1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177817	0.57692	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36878	1.24;1.23	5.72	5.72	0.89469	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.63843	1.955	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.55418	-0.8144	10	0.59425	D	0.04	-12.3556	11.2235	0.48869	0.0:0.859:0.0:0.141	.	240;240;240	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	M	240	ENSP00000318775:L240M;ENSP00000426654:L240M	ENSP00000318775:L240M	L	+	1	2	2	ANAPC4	25003070	25003070	0.929000	0.31497	0.971000	0.41717	0.830000	0.47004	1.862000	0.39448	2.711000	0.92665	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_013367			44	44		235	232	1		1	1		0	0	51	0		1	9.973536e-01	0	15	0	36	0	44	235
ANAPC4	29945	broad.mit.edu	37	4	25418146	25418146	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	667					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)			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)				GACTCTTGGTCCAGCTGCCTT	0.373																																						ENST00000315368.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1999-2001)gtC>gtA		anaphase promoting complex subunit 4							118.0	112.0	114.0					4																	25418146		2203	4300	6503	SO:0001819	synonymous_variant	29945	0	0					g.chr4:25418146C>A	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.2001C>A	chr4.hg19:g.25418146C>A		0					ANAPC4_ENST00000510092.1_Silent_p.V668V	p.V667V	NM_013367.2	NP_037499.2	1	2	3	1.998139	Q9UJX5	APC4_HUMAN		27	2143	+		Breast(46;0.0503)	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	1	1	hg19	c.2001C>A	CCDS3434.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_013367			52	52		253	251	1		1	1		0	0	56	0		1	9.999890e-01	0	29	0	56	0	52	253
ANAPC4	29945	broad.mit.edu	37	4	25418162	25418162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418162T>G	ENST00000315368.3	+	27	2159	c.2017T>G	c.(2017-2019)Tta>Gta	p.L673V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	673					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)			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)				GCCTTTGTCTTTAGTATATAA	0.358																																						ENST00000315368.3	1.000000	0.090000	3.600000e-01	1.500000e-01	0.230000	0.288010	0.230000	0.210000																										0				27						c.(2017-2019)Tta>Gta		anaphase promoting complex subunit 4							111.0	106.0	108.0					4																	25418162		2203	4300	6503	SO:0001583	missense	29945	0	0					g.chr4:25418162T>G	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.2017T>G	chr4.hg19:g.25418162T>G	ENSP00000318775:p.Leu673Val	0					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	p.L673V	NM_013367.2	NP_037499.2	1	2	3	1.998139	Q9UJX5	APC4_HUMAN		27	2159	+		Breast(46;0.0503)	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	0	1	hg19	c.2017T>G	CCDS3434.1	0	.	.	.	.	.	.	.	.	.	.	T	8.177	0.792979	0.16327	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30714	1.52;1.52	5.68	4.4	0.53042	5.68	4.4	0.53042	.	0.582512	0.18955	N	0.126564	T	0.16342	0.0393	N	0.19112	0.55	0.24966	N	0.991691	B	0.29716	0.255	B	0.21360	0.034	T	0.19647	-1.0299	10	0.12766	T	0.61	1.9083	9.7585	0.40517	0.0:0.0994:0.0:0.9006	.	673	Q9UJX5	APC4_HUMAN	V	673;674	ENSP00000318775:L673V;ENSP00000426654:L674V	ENSP00000318775:L673V	L	+	1	2	2	ANAPC4	25027260	25027260	0.824000	0.29247	0.509000	0.27700	0.972000	0.66771	1.617000	0.36943	0.852000	0.35287	0.445000	0.29226	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	0	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-6.783441	1	0.170000	NM_013367			6	6		324	322	0		1	0		0	0	63	0		9.646799e-01	4.568694e-01	0	0	0	76	0	6	324
SLC34A2	10568	broad.mit.edu	37	4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	274					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				41						c.(820-822)Ctc>Ttc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							136.0	135.0	135.0					4																	25671453		2203	4300	6503	SO:0001583	missense	10568	0	0					g.chr4:25671453C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.820C>T	chr4.hg19:g.25671453C>T	ENSP00000371483:p.Leu274Phe	0					SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F	p.L274F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		7	870	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	1	1	hg19	c.820C>T	CCDS3435.1	1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592077	0.66219	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26660	1.73;1.72;1.73	5.39	4.53	0.55603	5.39	4.53	0.55603	.	0.470827	0.24917	N	0.034573	T	0.48768	0.1518	M	0.85710	2.77	0.39028	D	0.95987	P;B	0.51791	0.948;0.086	P;B	0.56823	0.807;0.036	T	0.55724	-0.8096	10	0.30854	T	0.27	-30.4741	14.7178	0.69284	0.0:0.7251:0.2749:0.0	.	273;274	O95436-2;O95436	.;NPT2B_HUMAN	F	273;274;273	ENSP00000425501:L273F;ENSP00000371483:L274F;ENSP00000423021:L273F	ENSP00000371483:L274F	L	+	1	0	0	SLC34A2	25280551	25280551	1.000000	0.71417	0.956000	0.39512	0.953000	0.61014	1.867000	0.39499	1.372000	0.46190	0.561000	0.74099	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_006424			124	120		568	555	1		1	1		0	0	142	0		1	9.989066e-01	0	16	0	32	0	124	568
SLC34A2	10568	broad.mit.edu	37	4	25672428	25672428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	300					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998602	0.990000	1.000000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				41						c.(898-900)aaG>aaA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							80.0	71.0	74.0					4																	25672428		2203	4300	6503	SO:0001819	synonymous_variant	10568	0	0					g.chr4:25672428G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.900G>A	chr4.hg19:g.25672428G>A		0					SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	p.K300K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		8	950	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	1	1	hg19	c.900G>A	CCDS3435.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_006424			27	26		188	186	1		1	1		0	0	47	0		1	9.843961e-01	0	22	0	27	0	27	188
SLC34A2	10568	broad.mit.edu	37	4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	363					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGATCTTGCTGTGGGCACC	0.532			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.180000	4.400000e-01	2.400000e-01	0.320000	0.371564	0.320000	0.310000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				41						c.(1087-1089)gCt>gAt		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							214.0	188.0	197.0					4																	25674748		2203	4300	6503	SO:0001583	missense	10568	0	0					g.chr4:25674748C>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1088C>A	chr4.hg19:g.25674748C>A	ENSP00000371483:p.Ala363Asp	0					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	p.A363D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		10	1138	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	1	1	hg19	c.1088C>A	CCDS3435.1	0	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168115	0.38315	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25912	1.77;1.77;1.77	5.28	0.993	0.19825	5.28	0.993	0.19825	.	0.197636	0.53938	D	0.000059	T	0.45935	0.1367	M	0.89214	3.015	0.53688	D	0.999974	D;P	0.60160	0.987;0.955	P;P	0.58928	0.848;0.71	T	0.43988	-0.9357	10	0.62326	D	0.03	-4.0036	7.2379	0.26079	0.0:0.6647:0.1176:0.2177	.	362;363	O95436-2;O95436	.;NPT2B_HUMAN	D	362;363;362	ENSP00000425501:A362D;ENSP00000371483:A363D;ENSP00000423021:A362D	ENSP00000371483:A363D	A	+	2	0	0	SLC34A2	25283846	25283846	0.032000	0.19561	0.001000	0.08648	0.024000	0.10985	0.470000	0.22084	0.223000	0.20920	0.561000	0.74099	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	0	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-2.988381	1	0.170000	NM_006424			14	14		510	501	0		1	0		0	0	105	0		9.997280e-01	7.104601e-01	0	0	0	91	0	14	510
SLC34A2	10568	broad.mit.edu	37	4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	488					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A488S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - Missense(1)	p.A488S(1)	large_intestine(1)	41						c.(1462-1464)Gcc>Acc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							86.0	69.0	75.0					4																	25677760		2203	4300	6503	SO:0001583	missense	10568	0	0					g.chr4:25677760G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1462G>A	chr4.hg19:g.25677760G>A	ENSP00000371483:p.Ala488Thr	0					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T	p.A488T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		13	1512	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	1	1	hg19	c.1462G>A	CCDS3435.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389047	0.82902	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.87179	-2.22;-2.22;-2.22	5.04	4.13	0.48395	5.04	4.13	0.48395	.	0.106321	0.64402	D	0.000005	D	0.89396	0.6703	M	0.83483	2.645	0.80722	D	1	P;P	0.49447	0.924;0.869	B;P	0.46208	0.311;0.507	D	0.91155	0.4956	10	0.62326	D	0.03	-35.5842	14.5209	0.67849	0.0:0.0:0.8528:0.1472	.	487;488	O95436-2;O95436	.;NPT2B_HUMAN	T	487;488;487	ENSP00000425501:A487T;ENSP00000371483:A488T;ENSP00000423021:A487T	ENSP00000371483:A488T	A	+	1	0	0	SLC34A2	25286858	25286858	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	6.559000	0.73946	2.504000	0.84457	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_006424			35	34		197	191	1		1	1		0	0	27	0		1	9.964974e-01	0	7	0	45	0	35	197
SLC34A2	10568	broad.mit.edu	37	4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A	rs199853390		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	607					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				41						c.(1819-1821)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	49.0	49.0					4																	25678117		2203	4300	6503	SO:0001583	missense	10568	0	0					g.chr4:25678117G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1819G>A	chr4.hg19:g.25678117G>A	ENSP00000371483:p.Val607Ile	0					SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I	p.V607I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		13	1869	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	1	1	hg19	c.1819G>A	CCDS3435.1	1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718847	0.00700	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20881	2.04;2.04;2.04	5.48	-8.75	0.00834	5.48	-8.75	0.00834	.	0.547357	0.21007	N	0.081741	T	0.04092	0.0114	N	0.01535	-0.81	0.09310	N	1	B;B	0.20052	0.041;0.004	B;B	0.19391	0.025;0.004	T	0.24693	-1.0153	10	0.02654	T	1	-15.9216	10.1574	0.42831	0.2074:0.0912:0.6111:0.0903	.	606;607	O95436-2;O95436	.;NPT2B_HUMAN	I	606;607;606	ENSP00000425501:V606I;ENSP00000371483:V607I;ENSP00000423021:V606I	ENSP00000371483:V607I	V	+	1	0	0	SLC34A2	25287215	25287215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-1.512000	0.01791	-2.511000	0.00188	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	0		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_006424			93	92		385	382	1		1	1		0	0	76	0		1	9.999069e-01	0	28	0	30	0	93	385
SLC34A2	10568	broad.mit.edu	37	4	25678182	25678182	+	Silent	SNP	G	G	A	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000503434.1_Silent_p.A627A|SLC34A2_ENST00000504570.1_Silent_p.A627A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657			T	ROS1	NSCLC																																	ENST00000382051.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4p15.2	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""				E	E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				41						c.(1882-1884)gcG>gcA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							28.0	29.0	29.0					4																	25678182		2203	4300	6503	SO:0001819	synonymous_variant	10568	14	121390	42				g.chr4:25678182G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1884G>A	chr4.hg19:g.25678182G>A		0					SLC34A2_ENST00000503434.1_Silent_p.A627A|SLC34A2_ENST00000504570.1_Silent_p.A627A	p.A628A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	1	2	3	1.998139	O95436	NPT2B_HUMAN		13	1934	+		Breast(46;0.0503)	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	1	1	hg19	c.1884G>A	CCDS3435.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	0		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_006424			53	52		248	242	1		1	1		0	0	42	0		1	9.601501e-01	0	16	0	11	0	53	248
SEL1L3	23231	broad.mit.edu	37	4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	578						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423																																						ENST00000399878.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998380	0.990000	1.000000																										0				14						c.(1732-1734)Gtc>Ttc		sel-1 suppressor of lin-12-like 3 (C. elegans)							70.0	66.0	67.0					4																	25806207		1922	4135	6057	SO:0001583	missense	23231	0	0					g.chr4:25806207C>A	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.1732G>T	chr4.hg19:g.25806207C>A	ENSP00000382767:p.Val578Phe	0					SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F	p.V578F	NM_015187.3	NP_056002.2	1	2	3	1.998139	Q68CR1	SE1L3_HUMAN		10	1854	-			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	0	1	hg19	c.1732G>T	CCDS47037.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141414	0.57044	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55234	0.53;0.53;0.53	5.9	5.9	0.94986	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.278006	0.40818	N	0.001003	T	0.71256	0.3318	M	0.64997	1.995	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	T	0.64466	-0.6401	10	0.29301	T	0.29	-31.0739	20.2822	0.98520	0.0:1.0:0.0:0.0	.	578	Q68CR1	SE1L3_HUMAN	F	578;543;425	ENSP00000382767:V578F;ENSP00000264868:V543F;ENSP00000425438:V425F	ENSP00000264868:V543F	V	-	1	0	0	SEL1L3	25415305	25415305	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.078000	0.57606	2.806000	0.96561	0.655000	0.94253	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015187			15	15		84	84	1		1	1		0	0	18	0		9.999165e-01	1	0	202	0	398	0	15	84
SEL1L3	23231	broad.mit.edu	37	4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	379						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403																																						ENST00000399878.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999648	0.990000	1.000000																										0				14						c.(1135-1137)aGc>aAc		sel-1 suppressor of lin-12-like 3 (C. elegans)							132.0	124.0	127.0					4																	25831741		1906	4125	6031	SO:0001583	missense	23231	0	0					g.chr4:25831741C>T	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.1136G>A	chr4.hg19:g.25831741C>T	ENSP00000382767:p.Ser379Asn	0					SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N	p.S379N	NM_015187.3	NP_056002.2	1	2	3	1.998139	Q68CR1	SE1L3_HUMAN		6	1258	-			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	1	1	hg19	c.1136G>A	CCDS47037.1	1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817053	0.16607	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.22336	1.96;1.96;1.96	5.51	3.7	0.42460	5.51	3.7	0.42460	.	0.608051	0.19394	N	0.115339	T	0.11793	0.0287	N	0.22421	0.69	0.22903	N	0.998582	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.16896	T	0.51	-2.3838	6.5098	0.22216	0.0:0.7152:0.1836:0.1012	.	379	Q68CR1	SE1L3_HUMAN	N	379;344;226	ENSP00000382767:S379N;ENSP00000264868:S344N;ENSP00000425438:S226N	ENSP00000264868:S344N	S	-	2	0	0	SEL1L3	25440839	25440839	0.983000	0.35010	0.431000	0.26735	0.319000	0.28217	1.330000	0.33781	0.611000	0.30052	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-11.628460	1	0.170000	NM_015187			16	16		74	73	1		1	1		0	0	26	0		9.999581e-01	1	0	152	0	338	0	16	74
RBPJ	3516	broad.mit.edu	37	4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000361572.6	+	4	510	c.316G>T	c.(316-318)Gga>Tga	p.G106*	RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	106					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)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413																																						ENST00000361572.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(316-318)Gga>Tga		recombination signal binding protein for immunoglobulin kappa J region							138.0	144.0	142.0					4																	26417218		2203	4300	6503	SO:0001587	stop_gained	3516	0	0					g.chr4:26417218G>T	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.316G>T	chr4.hg19:g.26417218G>T	ENSP00000354528:p.Gly106*	0					RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*	p.G106*			1	2	3	1.998139	Q06330	SUH_HUMAN		4	510	+		Breast(46;0.0503)	B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	ENST00000361572.6	0	1	hg19	c.316G>T	CCDS3437.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278968	0.95489	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5728	19.4292	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	92;129;92;106;91;106;106;93;92;71;92;71;92;71;92;92;92;71	.	ENSP00000345206:G106X	G	+	1	0	0	RBPJ	26026316	26026316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-3.249017	1	0.170000	NM_015874			144	142		665	654	1		1	1		0	0	167	0		1	1	0	2	0	133	0	144	665
RBPJ	3516	broad.mit.edu	37	4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000361572.6	+	8	1035	c.841T>G	c.(841-843)Tca>Gca	p.S281A	RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	281					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)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313																																						ENST00000361572.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(841-843)Tca>Gca		recombination signal binding protein for immunoglobulin kappa J region							60.0	62.0	61.0					4																	26430396		2203	4297	6500	SO:0001583	missense	3516	0	0					g.chr4:26430396T>G	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.841T>G	chr4.hg19:g.26430396T>G	ENSP00000354528:p.Ser281Ala	0					RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A	p.S281A			1	2	3	1.998139	Q06330	SUH_HUMAN		8	1035	+		Breast(46;0.0503)	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	1	1	hg19	c.841T>G	CCDS3437.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623780	0.87460	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.51	5.51	0.81932	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.989;0.989;0.993	T	0.65952	-0.6043	10	0.87932	D	0	-14.0998	15.6036	0.76646	0.0:0.0:0.0:1.0	.	281;267;268;267;266;281	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	A	266;281;281;268;267;246;267;267;19	ENSP00000305815:S266A;ENSP00000345206:S281A;ENSP00000354528:S281A;ENSP00000339699:S268A;ENSP00000347659:S267A;ENSP00000423907:S246A;ENSP00000423703:S267A;ENSP00000340124:S267A;ENSP00000421804:S19A	ENSP00000345206:S281A	S	+	1	0	0	RBPJ	26039494	26039494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.100000	0.63781	0.533000	0.62120	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-19.994980	1	0.170000	NM_015874			36	36		150	148	1		1	1		0	0	34	0		1	1	0	4	0	196	0	36	150
CCKAR	886	broad.mit.edu	37	4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	411					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)			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)	GACAGAGAGGCTCCTGTGGTC	0.667																																						ENST00000295589.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999685	0.990000	1.000000																										0				29						c.(1231-1233)Gcc>Tcc		cholecystokinin A receptor	Ceruletide(DB00403)						98.0	98.0	98.0					4																	26483316		2203	4300	6503	SO:0001583	missense	886	0	0					g.chr4:26483316C>A	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.1231G>T	chr4.hg19:g.26483316C>A	ENSP00000295589:p.Ala411Ser	0						p.A411S	NM_000730.2	NP_000721.1	1	2	3	1.998139	P32238	CCKAR_HUMAN		5	1425	-		Breast(46;0.0503)	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	1	1	hg19	c.1231G>T	CCDS3438.1	1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156622	0.57259	.	.	ENSG00000163394	ENST00000295589	T	0.52754	0.65	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.267689	0.37136	N	0.002234	T	0.59376	0.2189	M	0.74258	2.255	0.37303	D	0.908806	D	0.55605	0.972	P	0.53102	0.718	T	0.60934	-0.7164	10	0.09084	T	0.74	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	411	P32238	CCKAR_HUMAN	S	411	ENSP00000295589:A411S	ENSP00000295589:A411S	A	-	1	0	0	CCKAR	26092414	26092414	1.000000	0.71417	0.802000	0.32245	0.053000	0.15095	6.257000	0.72480	2.452000	0.82932	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	0	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000				91	87		753	739	1		1			0	0	127	0		1	0	0	0	0	0	0	91	753
CCKAR	886	broad.mit.edu	37	4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	262					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)			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)	GTCCTCATATTTGCCGCTGCT	0.617																																						ENST00000295589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(784-786)aAa>aCa		cholecystokinin A receptor	Ceruletide(DB00403)						72.0	77.0	75.0					4																	26483762		2203	4300	6503	SO:0001583	missense	886	0	0					g.chr4:26483762T>G	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.785A>C	chr4.hg19:g.26483762T>G	ENSP00000295589:p.Lys262Thr	0						p.K262T	NM_000730.2	NP_000721.1	1	2	3	1.998139	P32238	CCKAR_HUMAN		5	979	-		Breast(46;0.0503)	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	1	1	hg19	c.785A>C	CCDS3438.1	1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512836	0.04200	.	.	ENSG00000163394	ENST00000295589	T	0.52057	0.68	5.22	-1.58	0.08479	5.22	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.297788	0.35870	N	0.002939	T	0.28400	0.0702	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.15925	-1.0420	10	0.12103	T	0.63	.	2.5809	0.04818	0.1187:0.2967:0.1177:0.4669	.	262	P32238	CCKAR_HUMAN	T	262	ENSP00000295589:K262T	ENSP00000295589:K262T	K	-	2	0	0	CCKAR	26092860	26092860	0.943000	0.32029	0.000000	0.03702	0.023000	0.10783	1.881000	0.39638	-0.333000	0.08476	-0.624000	0.04008	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000				107	104		463	457	1		1			0	0	94	0		1	0	0	0	0	0	0	107	463
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					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)			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)	GTCTCATTTTCGAGCCCGAGT	0.483																																						ENST00000295589.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(67-69)Gaa>Aaa		cholecystokinin A receptor	Ceruletide(DB00403)						115.0	97.0	103.0					4																	26491823		2203	4300	6503	SO:0001583	missense	886	0	0					g.chr4:26491823C>T	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.67G>A	chr4.hg19:g.26491823C>T	ENSP00000295589:p.Glu23Lys	0						p.E23K	NM_000730.2	NP_000721.1	1	2	3	1.998139	P32238	CCKAR_HUMAN		1	261	-		Breast(46;0.0503)	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	1	1	hg19	c.67G>A	CCDS3438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575313	0.45902	.	.	ENSG00000163394	ENST00000295589	T	0.51071	0.72	5.27	4.42	0.53409	5.27	4.42	0.53409	Cholecystokinin A receptor, N-terminal (2);	0.151828	0.43579	D	0.000542	T	0.38585	0.1046	L	0.60455	1.87	0.36322	D	0.858324	B	0.16603	0.018	B	0.12156	0.007	T	0.32052	-0.9921	10	0.07644	T	0.81	.	10.6755	0.45783	0.0:0.913:0.0:0.087	.	23	P32238	CCKAR_HUMAN	K	23	ENSP00000295589:E23K	ENSP00000295589:E23K	E	-	1	0	0	CCKAR	26100921	26100921	0.774000	0.28592	0.115000	0.21578	0.971000	0.66376	1.594000	0.36697	2.477000	0.83638	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.769260	1	0.170000				46	44		159	155	1		1			0	0	38	0		1	0	0	0	0	0	0	46	159
TBC1D19	55296	broad.mit.edu	37	4	26638889	26638889	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.S52S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	117							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303																																						ENST00000264866.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(349-351)agT>agC		TBC1 domain family, member 19							76.0	78.0	77.0					4																	26638889		2203	4299	6502	SO:0001819	synonymous_variant	55296	0	0					g.chr4:26638889T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.351T>C	chr4.hg19:g.26638889T>C		0					AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000511789.1_Silent_p.S52S|TBC1D19_ENST00000515568.1_3'UTR	p.S117S	NM_018317.2	NP_060787.2	1	2	3	1.998139	Q8N5T2	TBC19_HUMAN		5	629	+		Breast(46;0.0503)	B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	1	1	hg19	c.351T>C	CCDS3439.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_018317			75	73		342	335	1		1	1		0	0	52	0		1	8.097913e-01	0	5	0	11	0	75	342
PCDH7	5099	broad.mit.edu	37	4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	296	Cadherin 2. {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)			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						ATCCTACGGGTCCTCATCACC	0.687																																						ENST00000361762.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999844	0.990000	1.000000																										0				55						c.(886-888)gTc>gCc		protocadherin 7							9.0	12.0	11.0					4																	30723931		2184	4272	6456	SO:0001583	missense	5099	0	0					g.chr4:30723931T>C	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.887T>C	chr4.hg19:g.30723931T>C	ENSP00000355243:p.Val296Ala	0					PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	p.V296A	NM_002589.2	NP_002580.2	1	2	3	1.998139	O60245	PCDH7_HUMAN		1	1895	+			O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	0	1	hg19	c.887T>C	CCDS33971.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329591	0.81690	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	5.08	5.08	0.68730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89033	0.6600	H	0.97023	3.925	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.74348	0.971;0.983	D	0.92703	0.6176	9	0.87932	D	0	.	14.8453	0.70257	0.0:0.0:0.0:1.0	.	296;296	F5GWJ1;O60245	.;PCDH7_HUMAN	A	296	ENSP00000355243:V296A;ENSP00000441802:V296A	ENSP00000355243:V296A	V	+	2	0	0	PCDH7	30333029	30333029	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.245000	0.72398	1.897000	0.54924	0.454000	0.30748	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_032457, NM_002589			17	17		73	72	0		1	1		0	0	8	0		9.999798e-01	9.999984e-01	0	51	0	65	0	17	73
PCDH7	5099	broad.mit.edu	37	4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	702	Cadherin 6. {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)			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						GTCTTTTGACCGGGAACATCA	0.468																																						ENST00000361762.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2104-2106)Cgg>Tgg		protocadherin 7							121.0	119.0	120.0					4																	30725148		2203	4300	6503	SO:0001583	missense	5099	1	121412	24				g.chr4:30725148C>T	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.2104C>T	chr4.hg19:g.30725148C>T	ENSP00000355243:p.Arg702Trp	0					PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	p.R702W	NM_002589.2	NP_002580.2	1	2	3	1.998139	O60245	PCDH7_HUMAN		1	3112	+			O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	1	1	hg19	c.2104C>T	CCDS33971.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.221890|2.221890	0.39300|0.39300	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60299	.|0.2;0.2	5.25|5.25	2.43|2.43	0.29744|0.29744	5.25|5.25	2.43|2.43	0.29744|0.29744	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	D|D	0.83440|0.83440	0.5255|0.5255	H|H	0.97291|0.97291	3.975|3.975	0.49130|0.49130	D|D	0.999753|0.999753	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.88153|0.88153	0.2852|0.2852	5|9	.|0.87932	.|D	.|0	.|.	14.7006|14.7006	0.69154|0.69154	0.6418:0.3582:0.0:0.0|0.6418:0.3582:0.0:0.0	.|.	.|702;655;702	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|W	391|702;702;655	.|ENSP00000355243:R702W;ENSP00000441802:R702W	.|ENSP00000330302:R655W	P|R	+|+	2|1	0|2	0|2	PCDH7|PCDH7	30334246|30334246	30334246|30334246	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.084000|0.084000	0.14891|0.14891	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	CCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-2.620287	1	0.170000	NM_032457, NM_002589			126	126		675	665	1		1	1		0	0	150	0		1	1	0	434	0	434	0	126	675
ARAP2	116984	broad.mit.edu	37	4	36118684	36118684	+	Splice_Site	SNP	C	C	T	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			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						AGAACTTACCCGAATTATAAT	0.328																																						ENST00000303965.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999329	0.990000	1.000000																										0				82						c.(4036-4038)cGg>cAg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	67.0	66.0	67.0		4037	5.8	1.0	4	dbSNP_134	67	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice	ARAP2	NM_015230.3	43	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging	1346/1705	36118684	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	116984	12	121282	40				g.chr4:36118684C>T	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.4038+1G>A	chr4.hg19:g.36118684C>T		0						p.R1346Q	NM_015230.3	NP_056045.2	1	2	3	1.998139	Q8WZ64	ARAP2_HUMAN		25	4526	-			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	1	0	hg19	c.4037G>A	CCDS3441.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660559	0.88154	4.54E-4	4.65E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.76	5.76	0.90799	5.76	5.76	0.90799	Ras-association (2);	0.056391	0.64402	D	0.000002	T	0.28267	0.0698	L	0.28274	0.84	0.42707	D	0.993635	D	0.63046	0.992	P	0.58391	0.838	T	0.00695	-1.1606	10	0.51188	T	0.08	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	1346	Q8WZ64	ARAP2_HUMAN	Q	1346	ENSP00000302895:R1346Q	ENSP00000302895:R1346Q	R	-	2	0	0	ARAP2	35795079	35795079	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.102000	0.50291	2.880000	0.98712	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-3.008592	1	0.170000	NM_015230	Missense_Mutation		19	19		107	106	1		1	1		0	0	30	0		9.999941e-01	8.222219e-01	0	6	0	14	0	19	107
C4orf19	55286	broad.mit.edu	37	4	37592370	37592370	+	Silent	SNP	G	G	A	rs370496029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Silent_p.T231T|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458																																						ENST00000284437.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				9						c.(691-693)acG>acA		chromosome 4 open reading frame 19		G	,	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	65.0		693,693	-1.5	0.0	4		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C4orf19	NM_001104629.1,NM_018302.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	231/315,231/315	37592370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55286	5	121412	35				g.chr4:37592370G>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.693G>A	chr4.hg19:g.37592370G>A		0					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T|RP11-36B15.1_ENST00000503034.1_RNA	p.T231T	NM_018302.2	NP_060772.2	1	2	3	1.998139	Q8IY42	CD019_HUMAN		3	871	+			Q9NV03	Silent	SNP	ENST00000284437.6	1	1	hg19	c.693G>A	CCDS3442.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.384327	1	0.170000	NM_018302			36	36		177	171	1		1	1		0	0	44	0		1	9.996955e-01	0	18	0	45	0	36	177
TLR1	7096	broad.mit.edu	37	4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000502213.2	-	3	2481	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A751V			Q15399	TLR1_HUMAN	toll-like receptor 1	751	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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443																																					GBM(5;216 373 40795 46382)	ENST00000502213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2251-2253)gCc>gTc		toll-like receptor 1							114.0	108.0	110.0					4																	38798201		2203	4300	6503	SO:0001583	missense	7096	0	0					g.chr4:38798201G>A	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.2252C>T	chr4.hg19:g.38798201G>A	ENSP00000421259:p.Ala751Val	0					TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A751V	p.A751V			1	2	3	1.998139	Q15399	TLR1_HUMAN		3	2481	-			D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	1	1	hg19	c.2252C>T	CCDS33973.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838515	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.2	3.44	0.39384	5.2	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.292074	0.28135	N	0.016470	D	0.83547	0.5278	M	0.71581	2.175	0.37433	D	0.914121	P	0.41929	0.765	P	0.45794	0.493	D	0.85029	0.0916	10	0.72032	D	0.01	.	10.1212	0.42621	0.0714:0.0:0.7915:0.1371	.	751	Q15399	TLR1_HUMAN	V	751	ENSP00000354932:A751V;ENSP00000421259:A751V	ENSP00000354932:A751V	A	-	2	0	0	TLR1	38474596	38474596	0.270000	0.24152	0.617000	0.29091	0.051000	0.14879	1.387000	0.34430	0.677000	0.31305	-0.251000	0.11542	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				74	73		316	311	1		1	0		0	0	91	0		1	9.998825e-01	0	1	0	58	0	74	316
TLR1	7096	broad.mit.edu	37	4	38800423	38800423	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000502213.2	-	3	259	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000308979.2_Silent_p.I10I			Q15399	TLR1_HUMAN	toll-like receptor 1	10					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343																																					GBM(5;216 373 40795 46382)	ENST00000502213.2	1.000000	0.610000	1	8.100000e-01	0.990000	0.931443	0.990000	1.000000																										0				28						c.(28-30)atC>atA		toll-like receptor 1							36.0	39.0	38.0					4																	38800423		2196	4293	6489	SO:0001819	synonymous_variant	7096	0	0					g.chr4:38800423G>T	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.30C>A	chr4.hg19:g.38800423G>T		0					TLR1_ENST00000308979.2_Silent_p.I10I	p.I10I			1	2	3	1.998139	Q15399	TLR1_HUMAN		3	259	-			D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	1	1	hg19	c.30C>A	CCDS33973.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-7.162592	1	0.170000				14	14		146	146	0		1	0		0	0	50	0		9.997988e-01	3.403922e-01	0	0	0	13	0	14	146
TLR6	10333	broad.mit.edu	37	4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000381950.1	-	1	1356	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000436693.2_Missense_Mutation_p.V431L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	431					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373																																						ENST00000381950.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1291-1293)Gtg>Ttg		toll-like receptor 6							113.0	120.0	118.0					4																	38829804		2203	4300	6503	SO:0001583	missense	10333	0	0					g.chr4:38829804C>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1291G>T	chr4.hg19:g.38829804C>A	ENSP00000371376:p.Val431Leu	0					TLR6_ENST00000436693.2_Missense_Mutation_p.V431L	p.V431L			1	2	3	1.998139	Q9Y2C9	TLR6_HUMAN		1	1356	-			B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	1	1	hg19	c.1291G>T	CCDS3446.1	1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637613	0.03557	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.52295	0.67;0.67	5.14	-0.74	0.11115	5.14	-0.74	0.11115	.	1.929330	0.02338	N	0.074593	T	0.27933	0.0688	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05954	-1.0854	10	0.11794	T	0.64	.	2.4207	0.04447	0.2402:0.4105:0.1997:0.1497	.	431	Q9Y2C9	TLR6_HUMAN	L	431	ENSP00000389600:V431L;ENSP00000371376:V431L	ENSP00000371376:V431L	V	-	1	0	0	TLR6	38506199	38506199	0.000000	0.05858	0.850000	0.33497	0.978000	0.69477	-0.572000	0.05881	-0.071000	0.12886	0.484000	0.47621	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000				131	127		573	565	1		1	0		0	0	131	0		1	2.366271e-01	0	0	0	5	0	131	573
WDR19	57728	broad.mit.edu	37	4	39191347	39191347	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000399820.3	+	4	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame|WDR19_ENST00000506503.1_Missense_Mutation_p.I79S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	79					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)				large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358																																						ENST00000399820.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				1						c.(235-237)aTt>aGt		WD repeat domain 19							111.0	110.0	110.0					4																	39191347		1850	4117	5967	SO:0001583	missense	57728	0	0					g.chr4:39191347T>G	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.236T>G	chr4.hg19:g.39191347T>G	ENSP00000382717:p.Ile79Ser	0					WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame|WDR19_ENST00000506503.1_Missense_Mutation_p.I79S	p.I79S	NM_025132.3	NP_079408.3	1	2	3	1.998139	Q8NEZ3	WDR19_HUMAN		4	390	+			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	1	0	hg19	c.236T>G	CCDS47042.1	1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564276	0.86335	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.38560	3.0;1.13;3.0	5.94	5.94	0.96194	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043861	0.85682	D	0.000000	T	0.67468	0.2896	M	0.85542	2.76	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.913;0.921	T	0.73335	-0.4015	10	0.87932	D	0	-21.0613	16.3939	0.83550	0.0:0.0:0.0:1.0	.	79;79	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	S	79;20;79;78	ENSP00000382717:I79S;ENSP00000426918:I20S;ENSP00000423491:I79S	ENSP00000382717:I79S	I	+	2	0	0	WDR19	38867742	38867742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.670000	0.83925	2.276000	0.75962	0.455000	0.32223	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-19.997930	1	0.170000				41	39		203	201	1		1	1		0	0	43	0		1	9.342895e-01	0	5	0	20	0	41	203
WDR19	57728	broad.mit.edu	37	4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000288634.7_Missense_Mutation_p.R317C|WDR19_ENST00000506503.1_Silent_p.A475A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	477					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)				large_intestine(1)	1						TGATAAGTGCCGTATCTTATG	0.368																																						ENST00000399820.3	1.000000	0.260000	4.700000e-01	3.100000e-01	0.380000	0.420241	0.380000	0.370000																										0				1						c.(1429-1431)Cgt>Tgt		WD repeat domain 19							267.0	265.0	265.0					4																	39219675		1919	4127	6046	SO:0001583	missense	57728	1	120860	33				g.chr4:39219675C>T	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.1429C>T	chr4.hg19:g.39219675C>T	ENSP00000382717:p.Arg477Cys	0					WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	p.R477C	NM_025132.3	NP_079408.3	1	2	3	1.998139	Q8NEZ3	WDR19_HUMAN		14	1583	+			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	1	1	hg19	c.1429C>T	CCDS47042.1	0	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350198	0.82132	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.96104	-3.91;-3.91	5.5	5.5	0.81552	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050040	0.85682	D	0.000000	D	0.95884	0.8660	L	0.61036	1.89	0.58432	D	0.999994	D	0.71674	0.998	P	0.54924	0.764	D	0.95584	0.8649	10	0.59425	D	0.04	-16.209	12.9712	0.58513	0.2828:0.7172:0.0:0.0	.	477	Q8NEZ3	WDR19_HUMAN	C	477;317	ENSP00000382717:R477C;ENSP00000288634:R317C	ENSP00000288634:R317C	R	+	1	0	0	WDR19	38896070	38896070	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.823000	0.55715	2.600000	0.87896	0.491000	0.48974	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1	0	0	1		2	2	2	0		0	0	181		181	179	1	2.060000	-2.273126	0	0.170000				32	31		973	951	0		1	1		0	0	181	0		1	3.182497e-01	0	2	0	33	0	32	973
RFC1	5981	broad.mit.edu	37	4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1092					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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(3274-3276)Gat>Tat		replication factor C (activator 1) 1, 145kDa							235.0	230.0	232.0					4																	39291557		2203	4300	6503	SO:0001583	missense	5981	0	0					g.chr4:39291557C>A	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.3274G>T	chr4.hg19:g.39291557C>A	ENSP00000371321:p.Asp1092Tyr	0					RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	p.D1092Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	1	2	3	1.998139	P35251	RFC1_HUMAN		24	3407	-			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	1	1	hg19	c.3274G>T	CCDS56329.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.290121|2.290121	0.40494|0.40494	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	T;T|.	0.14144|.	2.53;2.53|.	5.83|5.83	3.8|3.8	0.43715|0.43715	5.83|5.83	3.8|3.8	0.43715|0.43715	.|.	0.392641|.	0.23591|.	N|.	0.046557|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.42668|0.42668	D|D	0.9935|0.9935	B;D|.	0.58620|.	0.074;0.983|.	B;P|.	0.61940|.	0.031;0.896|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.66056|.	D|.	0.02|.	-15.5032|-15.5032	11.9623|11.9623	0.53015|0.53015	0.0:0.7924:0.0:0.2076|0.0:0.7924:0.0:0.2076	.|.	1092;1091|.	P35251;P35251-2|.	RFC1_HUMAN;.|.	Y|V	1092;1091|68	ENSP00000371321:D1092Y;ENSP00000261424:D1091Y|.	ENSP00000261424:D1091Y|.	D|G	-|-	1|2	0|0	0|0	RFC1|RFC1	38967952|38967952	38967952|38967952	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.012000|0.012000	0.07955|0.07955	3.084000|3.084000	0.50143|0.50143	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GAT|GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-20.000000	1	0.170000	NM_002913			157	156		650	635	1		1	1		0	0	163	0		1	1	0	57	0	145	0	157	650
RFC1	5981	broad.mit.edu	37	4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	616					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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1846-1848)cGa>cAa		replication factor C (activator 1) 1, 145kDa							148.0	155.0	153.0					4																	39310294		2203	4300	6503	SO:0001583	missense	5981	1	121412	38				g.chr4:39310294C>T	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.1847G>A	chr4.hg19:g.39310294C>T	ENSP00000371321:p.Arg616Gln	0					RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	1	2	3	1.998139	P35251	RFC1_HUMAN		13	1980	-			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	1	1	hg19	c.1847G>A	CCDS56329.1	1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071495	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17370	2.28;2.28	5.91	3.03	0.35002	5.91	3.03	0.35002	.	0.309163	0.32416	N	0.006135	T	0.06735	0.0172	N	0.05199	-0.095	0.29184	N	0.876329	B;B	0.16802	0.005;0.019	B;B	0.14023	0.004;0.01	T	0.32640	-0.9899	10	0.15952	T	0.53	-2.8818	6.7029	0.23234	0.0:0.5824:0.0:0.4176	.	616;616	P35251;P35251-2	RFC1_HUMAN;.	Q	616	ENSP00000371321:R616Q;ENSP00000261424:R616Q	ENSP00000261424:R616Q	R	-	2	0	0	RFC1	38986689	38986689	0.208000	0.23494	0.998000	0.56505	0.976000	0.68499	0.502000	0.22594	0.706000	0.31912	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	0		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_002913			165	162		761	739	1		1	1		0	0	154	0		1	1	0	44	0	80	0	165	761
RFC1	5981	broad.mit.edu	37	4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	267					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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				16						c.(799-801)cCt>cTt		replication factor C (activator 1) 1, 145kDa							171.0	167.0	168.0					4																	39322915		2202	4299	6501	SO:0001583	missense	5981	0	0					g.chr4:39322915G>A	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.800C>T	chr4.hg19:g.39322915G>A	ENSP00000371321:p.Pro267Leu	0					RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	p.P267L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	1	2	3	1.998139	P35251	RFC1_HUMAN		8	933	-			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	1	1	hg19	c.800C>T	CCDS56329.1	1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059602	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53640	0.61;0.61	4.81	3.97	0.46021	4.81	3.97	0.46021	.	0.901960	0.09779	N	0.756915	T	0.45597	0.1350	L	0.57536	1.79	0.38095	D	0.937084	B;B	0.15141	0.007;0.012	B;B	0.13407	0.003;0.009	T	0.35798	-0.9774	10	0.33940	T	0.23	-7.1936	11.0667	0.47979	0.1565:0.0:0.8435:0.0	.	267;267	P35251;P35251-2	RFC1_HUMAN;.	L	267	ENSP00000371321:P267L;ENSP00000261424:P267L	ENSP00000261424:P267L	P	-	2	0	0	RFC1	38999310	38999310	0.998000	0.40836	0.940000	0.37924	0.732000	0.41865	1.280000	0.33202	1.355000	0.45865	-0.127000	0.14921	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-2.694293	1	0.170000	NM_002913			41	41		243	242	1		1	1		0	0	53	0		1	9.999787e-01	0	32	0	67	0	41	243
KLB	152831	broad.mit.edu	37	4	39436299	39436299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39436299C>T	ENST00000257408.4	+	2	1392	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|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 cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCACGGCCATCTACATG	0.398																																						ENST00000257408.4	1.000000	0.130000	4.000000e-01	1.900000e-01	0.280000	0.327790	0.280000	0.260000																										0				29						c.(1294-1296)gCc>gTc		klotho beta							60.0	59.0	60.0					4																	39436299		2203	4300	6503	SO:0001583	missense	152831	0	0					g.chr4:39436299C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1295C>T	chr4.hg19:g.39436299C>T	ENSP00000257408:p.Ala432Val	0						p.A432V	NM_175737.3	NP_783864.1	1	2	3	1.998139	Q86Z14	KLOTB_HUMAN		2	1392	+			Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	0	1	hg19	c.1295C>T	CCDS3451.1	0	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585018	0.46110	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	5.22	0.72569	6.06	5.22	0.72569	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.26991	0.0661	L	0.57536	1.79	0.36098	D	0.843949	P;P	0.39809	0.689;0.689	B;B	0.34093	0.175;0.175	T	0.37820	-0.9689	10	0.44086	T	0.13	-16.2588	9.5577	0.39348	0.0:0.792:0.0:0.208	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	432	ENSP00000257408:A432V	ENSP00000257408:A432V	A	+	2	0	0	KLB	39112694	39112694	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.254000	0.51477	1.575000	0.49775	-0.136000	0.14681	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-8.506247	1	0.170000	NM_175737			9	9		395	387	0		1	0		0	0	74	0		9.937957e-01	0	0	0	0	1	0	9	395
KLB	152831	broad.mit.edu	37	4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|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 cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512																																						ENST00000257408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1732-1734)gaT>gaG		klotho beta							101.0	104.0	103.0					4																	39448080		2203	4300	6503	SO:0001583	missense	152831	0	0					g.chr4:39448080T>G	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1734T>G	chr4.hg19:g.39448080T>G	ENSP00000257408:p.Asp578Glu	0						p.D578E	NM_175737.3	NP_783864.1	1	2	3	1.998139	Q86Z14	KLOTB_HUMAN		4	1831	+			Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	1	1	hg19	c.1734T>G	CCDS3451.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984487	0.74474	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	5.68	-0.762	0.11034	5.68	-0.762	0.11034	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045170	0.85682	D	0.000000	T	0.38401	0.1039	L	0.53617	1.68	0.35765	D	0.820461	D;D	0.56746	0.977;0.977	P;P	0.57283	0.817;0.817	T	0.44050	-0.9353	10	0.42905	T	0.14	-24.6571	10.2208	0.43196	0.0:0.4305:0.0:0.5695	.	569;578	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	578	ENSP00000257408:D578E	ENSP00000257408:D578E	D	+	3	2	2	KLB	39124475	39124475	0.964000	0.33143	0.915000	0.36163	0.850000	0.48378	0.088000	0.14979	-0.100000	0.12241	0.397000	0.26171	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_175737			67	66		309	306	1		1	0		0	0	71	0		1	3.275118e-02	0	1	0	1	0	67	309
UGDH	7358	broad.mit.edu	37	4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	38					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTTGATTCATTGACATCAACA	0.378																																						ENST00000316423.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(112-114)Aat>Gat		UDP-glucose 6-dehydrogenase							160.0	142.0	148.0					4																	39523021		2203	4300	6503	SO:0001583	missense	7358	0	0					g.chr4:39523021T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.112A>G	chr4.hg19:g.39523021T>C	ENSP00000319501:p.Asn38Asp	0					UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron	p.N38D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	1	2	3	1.998139	O60701	UGDH_HUMAN		2	454	-			B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	1	1	hg19	c.112A>G	CCDS3455.1	1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639124	0.67244	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.07	6.07	0.98685	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.11284	0.12	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15052	0.012;0.003	T	0.57894	-0.7732	10	0.25106	T	0.35	-3.6669	15.8218	0.78654	0.0:0.0:0.0:1.0	.	38;38	B3KUU2;O60701	.;UGDH_HUMAN	D	38;38;38;51;38;38;38;38	ENSP00000319501:N38D;ENSP00000422909:N38D;ENSP00000421757:N38D;ENSP00000421954:N51D;ENSP00000425834:N38D;ENSP00000422603:N38D;ENSP00000422565:N38D;ENSP00000427708:N38D	ENSP00000319501:N38D	N	-	1	0	0	UGDH	39199416	39199416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_003359			98	97		404	403	1		1	1		0	0	84	0		1	1	0	27	0	74	0	98	404
PDS5A	23244	broad.mit.edu	37	4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483																																						ENST00000303538.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3895-3897)gCt>gTt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							98.0	98.0	98.0					4																	39839590		1900	4117	6017	SO:0001583	missense	23244	0	0					g.chr4:39839590G>A	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.3896C>T	chr4.hg19:g.39839590G>A	ENSP00000303427:p.Ala1299Val	0						p.A1299V	NM_001100399.1	NP_001093869.1	1	2	3	1.998139				32	4435	-				Missense_Mutation	SNP	ENST00000303538.8	1	1	hg19	c.3896C>T	CCDS47045.1	1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705450	0.48412	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	3.52	0.40303	5.31	3.52	0.40303	.	0.116081	0.56097	D	0.000023	T	0.40067	0.1102	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.44278	0.445	T	0.08289	-1.0729	8	.	.	.	0.0019	10.4171	0.44329	0.073:0.135:0.792:0.0	.	1299	Q29RF7	PDS5A_HUMAN	V	1299	.	.	A	-	2	0	0	PDS5A	39515985	39515985	0.998000	0.40836	0.426000	0.26672	0.005000	0.04900	2.952000	0.49097	0.567000	0.29293	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_015200			47	46		174	168	1		1	1		0	0	60	0		1	1	0	50	0	151	0	47	174
PDS5A	23244	broad.mit.edu	37	4	39910118	39910118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39910118C>T	ENST00000303538.8	-	11	1669	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R377H	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GACATCATGACGAATAGCTTC	0.348																																						ENST00000303538.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1129-1131)cGt>cAt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							147.0	136.0	140.0					4																	39910118		1838	4087	5925	SO:0001583	missense	23244	0	0					g.chr4:39910118C>T	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.1130G>A	chr4.hg19:g.39910118C>T	ENSP00000303427:p.Arg377His	0					PDS5A_ENST00000503396.1_Missense_Mutation_p.R377H	p.R377H	NM_001100399.1	NP_001093869.1	1	2	3	1.998139				11	1669	-				Missense_Mutation	SNP	ENST00000303538.8	1	0	hg19	c.1130G>A	CCDS47045.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.228229	0.95173	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.76060	-0.99;-0.99	5.03	5.03	0.67393	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87701	0.2560	9	.	.	.	-8.9492	18.3555	0.90356	0.0:1.0:0.0:0.0	.	377;377	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	H	377	ENSP00000303427:R377H;ENSP00000426749:R377H	.	R	-	2	0	0	PDS5A	39586513	39586513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.342000	0.79632	0.557000	0.71058	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-20.000000	1	0.170000	NM_015200			101	101		392	386	0		1	1		0	0	86	0		1	1	0	28	0	105	0	101	392
N4BP2	55728	broad.mit.edu	37	4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	135					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)			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						TCATTTTTGGACATGCAGCTA	0.373																																						ENST00000261435.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(403-405)gAc>gGc		NEDD4 binding protein 2							94.0	91.0	92.0					4																	40103869		2203	4300	6503	SO:0001583	missense	55728	0	0					g.chr4:40103869A>G	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.404A>G	chr4.hg19:g.40103869A>G	ENSP00000261435:p.Asp135Gly	0						p.D135G	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		4	820	+			A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	1	1	hg19	c.404A>G	CCDS3457.1	1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541654	0.65085	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.549948	0.19174	N	0.120868	T	0.73450	0.3588	L	0.32530	0.975	0.29809	N	0.831763	B;B	0.27997	0.197;0.125	B;B	0.32533	0.147;0.07	T	0.72656	-0.4227	10	0.66056	D	0.02	-8.8579	10.3186	0.43751	0.9245:0.0:0.0755:0.0	.	135;135	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	135;55;55	ENSP00000261435:D135G;ENSP00000422057:D55G	ENSP00000261435:D135G	D	+	2	0	0	N4BP2	39780264	39780264	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	3.636000	0.54317	2.333000	0.79357	0.482000	0.46254	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	0	0	1		15	2	2	1		1	1	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_018177			103	99		460	455	1		1	1		1	0	130	0		1	6.261161e-01	0	4	0	7	0	103	460
N4BP2	55728	broad.mit.edu	37	4	40104536	40104536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	357	Pro-rich.				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)			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						TGCCTCCTCCGCCACCTCCAC	0.512																																						ENST00000261435.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1069-1071)ccG>ccA		NEDD4 binding protein 2							125.0	121.0	122.0					4																	40104536		2203	4300	6503	SO:0001819	synonymous_variant	55728	0	0					g.chr4:40104536G>A	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.1071G>A	chr4.hg19:g.40104536G>A		0						p.P357P	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		4	1487	+			A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	1	1	hg19	c.1071G>A	CCDS3457.1	1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602319	0.00849	.	.	ENSG00000078177	ENST00000513269	.	.	.	6.07	-12.1	0.00011	6.07	-12.1	0.00011	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09618	-1.0666	4	.	.	.	-2.5964	0.9054	0.01283	0.2678:0.2321:0.2979:0.2023	.	.	.	.	T	4	.	.	A	+	1	0	0	N4BP2	39780931	39780931	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-1.413000	0.02473	-1.582000	0.01640	-1.303000	0.01326	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-3.128026	1	0.170000	NM_018177			95	92		404	385	1		1	0		0	0	97	0		1	8.074135e-01	0	1	0	14	0	95	404
N4BP2	55728	broad.mit.edu	37	4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	865					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)			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						CCACTCAATAGCTATAAATAT	0.398																																						ENST00000261435.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				60						c.(2593-2595)aGc>aTc		NEDD4 binding protein 2							59.0	60.0	60.0					4																	40122325		2203	4300	6503	SO:0001583	missense	55728	0	0					g.chr4:40122325G>T	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.2594G>T	chr4.hg19:g.40122325G>T	ENSP00000261435:p.Ser865Ile	0						p.S865I	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		9	3010	+			A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	1	1	hg19	c.2594G>T	CCDS3457.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.638|8.638	0.895275|0.895275	0.17613|0.17613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19806|.	2.12|.	5.64|5.64	0.519|0.519	0.17035|0.17035	5.64|5.64	0.519|0.519	0.17035|0.17035	.|.	0.874397|.	0.10375|.	N|.	0.682311|.	T|.	0.36936|.	0.0985|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;B|.	0.37207|.	0.587;0.451|.	B;B|.	0.36464|.	0.225;0.112|.	T|.	0.32052|.	-0.9921|.	10|.	0.62326|.	D|.	0.03|.	-1.8524|-1.8524	2.9096|2.9096	0.05732|0.05732	0.1304:0.3175:0.3411:0.211|0.1304:0.3175:0.3411:0.211	.|.	865;865|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	865;785|511	ENSP00000261435:S865I|.	ENSP00000261435:S865I|.	S|X	+|+	2|3	0|2	0|2	N4BP2|N4BP2	39798720|39798720	39798720|39798720	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.085000|-0.085000	0.11250|0.11250	0.037000|0.037000	0.15575|0.15575	0.561000|0.561000	0.74099|0.74099	AGC|TAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1		18	2	2	0		0	1	40		40	40	1	2.060000	-19.942030	1	0.170000	NM_018177			39	39		201	192	1		1	0		0	0	40	0		9.985143e-01	3.263605e-01	0	1	0	6	0	39	201
N4BP2	55728	broad.mit.edu	37	4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1003					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)			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						AGAGCAAATGCCTAAGAGAGA	0.408																																						ENST00000261435.6	1.000000	0.700000	1	8.400000e-01	0.990000	0.944169	0.990000	1.000000																										0				60						c.(3007-3009)Cct>Tct		NEDD4 binding protein 2							64.0	63.0	63.0					4																	40122738		2203	4300	6503	SO:0001583	missense	55728	0	0					g.chr4:40122738C>T	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.3007C>T	chr4.hg19:g.40122738C>T	ENSP00000261435:p.Pro1003Ser	0						p.P1003S	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		9	3423	+			A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	1	1	hg19	c.3007C>T	CCDS3457.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.566015|-1.566015	0.00903|0.00903	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	6.02|6.02	-3.81|-3.81	0.04294|0.04294	6.02|6.02	-3.81|-3.81	0.04294|0.04294	.|.	.|1.432000	.|0.03800	.|N	.|0.264223	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.18276	.|T	.|0.48	0.3197|0.3197	1.666|1.666	0.02802|0.02802	0.2159:0.2675:0.099:0.4175|0.2159:0.2675:0.099:0.4175	.|.	.|1003;1003	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	V|S	649|1003;923	.|ENSP00000261435:P1003S	.|ENSP00000261435:P1003S	A|P	+|+	2|1	0|0	0|0	N4BP2|N4BP2	39799133|39799133	39799133|39799133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.930000|-0.930000	0.03972|0.03972	-1.381000|-1.381000	0.02112|0.02112	-0.140000|-0.140000	0.14226|0.14226	GCC|CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_018177			29	29		311	308	0		1	1		0	0	56	0		1	2.511755e-01	0	2	0	9	0	29	311
N4BP2	55728	broad.mit.edu	37	4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1571					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)			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						TGTAAAAACAGTTGTAGCCCA	0.338																																						ENST00000261435.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				60						c.(4711-4713)Gtt>Att		NEDD4 binding protein 2							75.0	75.0	75.0					4																	40138628		2203	4300	6503	SO:0001583	missense	55728	0	0					g.chr4:40138628G>A	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.4711G>A	chr4.hg19:g.40138628G>A	ENSP00000261435:p.Val1571Ile	0						p.V1571I	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		14	5127	+			A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	1	1	hg19	c.4711G>A	CCDS3457.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676723|4.676723	0.88445|0.88445	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.22134	.|1.97	5.41|5.41	5.41|5.41	0.78517|0.78517	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.069343	.|0.56097	.|D	.|0.000029	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.32530|0.32530	0.975|0.975	0.48341|0.48341	D|D	0.999636|0.999636	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.03025|0.03025	-1.1081|-1.1081	5|10	.|0.39692	.|T	.|0.17	-14.4961|-14.4961	17.3733|17.3733	0.87384|0.87384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1571;1571	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	1217|1571;1491	.|ENSP00000261435:V1571I	.|ENSP00000261435:V1571I	S|V	+|+	2|1	0|0	0|0	N4BP2|N4BP2	39815023|39815023	39815023|39815023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.671000|7.671000	0.83941|0.83941	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	AGT|GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_018177			40	40		226	223	0		1	0		0	0	48	0		1	6.479648e-01	0	0	0	14	0	40	226
N4BP2	55728	broad.mit.edu	37	4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1754	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				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)			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						ATAAGCCATAGCTTCAGGTGA	0.408																																						ENST00000261435.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(5260-5262)aGc>aTc		NEDD4 binding protein 2							148.0	130.0	136.0					4																	40154517		2203	4300	6503	SO:0001583	missense	55728	0	0					g.chr4:40154517G>T	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.5261G>T	chr4.hg19:g.40154517G>T	ENSP00000261435:p.Ser1754Ile	0						p.S1754I	NM_018177.4	NP_060647.2	1	2	3	1.998139	Q86UW6	N4BP2_HUMAN		17	5677	+			A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	1	1	hg19	c.5261G>T	CCDS3457.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611447|3.611447	0.66558|0.66558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18810|.	2.19|.	5.83|5.83	0.364|0.364	0.16124|0.16124	5.83|5.83	0.364|0.364	0.16124|0.16124	Smr protein/MutS2 C-terminal (2);|.	0.428284|.	0.26359|.	N|.	0.024835|.	T|.	0.34513|.	0.0900|.	L|L	0.33137|0.33137	0.985|0.985	0.29688|0.29688	N|N	0.84114|0.84114	P;P|.	0.47409|.	0.872;0.895|.	P;P|.	0.57425|.	0.726;0.82|.	T|.	0.35674|.	-0.9779|.	10|.	0.72032|.	D|.	0.01|.	-0.0705|-0.0705	10.509|10.509	0.44851|0.44851	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	1737;1754|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	1754;1674|1383	ENSP00000261435:S1754I|.	ENSP00000261435:S1754I|.	S|X	+|+	2|3	0|2	0|2	N4BP2|N4BP2	39830912|39830912	39830912|39830912	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.982000|0.982000	0.71751|0.71751	1.585000|1.585000	0.36600|0.36600	0.078000|0.078000	0.16900|0.16900	0.655000|0.655000	0.94253|0.94253	AGC|TAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_018177			47	46		240	235	1		1	1		0	0	48	0		1	6.556029e-01	0	2	0	11	0	47	240
RHOH	399	broad.mit.edu	37	4	40245060	40245060	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	18					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|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 differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562																																						ENST00000381799.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(52-54)acC>acA		ras homolog family member H							216.0	166.0	183.0					4																	40245060		2203	4300	6503	SO:0001819	synonymous_variant	399	0	0					g.chr4:40245060C>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.54C>A	chr4.hg19:g.40245060C>A		0					RHOH_ENST00000505618.1_Silent_p.T18T	p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	1	2	3	1.998139	Q15669	RHOH_HUMAN		3	778	+				Silent	SNP	ENST00000381799.5	1	1	hg19	c.54C>A	CCDS3458.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.273170	1	0.170000	NM_004310			58	58		278	271	1		1	0		0	0	77	0		1	9.848479e-01	0	0	0	34	0	58	278
RHOH	399	broad.mit.edu	37	4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	133					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|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 differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602																																						ENST00000381799.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(397-399)Gcc>Tcc		ras homolog family member H							52.0	54.0	54.0					4																	40245403		2203	4300	6503	SO:0001583	missense	399	0	0					g.chr4:40245403G>T	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.397G>T	chr4.hg19:g.40245403G>T	ENSP00000371219:p.Ala133Ser	0					RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	1	2	3	1.998139	Q15669	RHOH_HUMAN		3	1121	+				Missense_Mutation	SNP	ENST00000381799.5	1	1	hg19	c.397G>T	CCDS3458.1	1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029282	0.08054	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.76839	-1.05;-1.05	5.92	4.0	0.46444	5.92	4.0	0.46444	Small GTP-binding protein domain (1);	0.326387	0.33346	N	0.005007	T	0.54565	0.1866	N	0.05230	-0.09	0.28632	N	0.907628	B	0.02656	0.0	B	0.08055	0.003	T	0.44498	-0.9324	10	0.33940	T	0.23	.	8.8676	0.35296	0.0:0.2369:0.4532:0.3098	.	133	Q15669	RHOH_HUMAN	S	133	ENSP00000425010:A133S;ENSP00000371219:A133S	ENSP00000371219:A133S	A	+	1	0	0	RHOH	39921798	39921798	0.604000	0.26932	0.978000	0.43139	0.164000	0.22412	-0.014000	0.12656	2.810000	0.96702	0.585000	0.79938	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-20.000000	1	0.170000	NM_004310			53	52		276	271	1		1	0		0	0	63	0		1	9.901912e-01	0	0	0	40	0	53	276
CHRNA9	55584	broad.mit.edu	37	4	40351187	40351187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	218					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)			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)	TCTCCTATGGCTGCTGCTCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(652-654)ggC>ggT		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Galantamine(DB00674)|Nicotine(DB00184)						267.0	244.0	252.0					4																	40351187		2203	4300	6503	SO:0001819	synonymous_variant	55584	0	0					g.chr4:40351187C>T	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.654C>T	chr4.hg19:g.40351187C>T		0						p.G218G	NM_017581.3	NP_060051.2	1	2	3	1.998139	Q9UGM1	ACHA9_HUMAN		4	793	+			Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	1	1	hg19	c.654C>T	CCDS3459.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	1	0	0		2	2	2	0		0	0	316		316	311	1	2.060000	-20.000000	1	0.170000				280	277		1285	1251	1		1	0		0	0	316	0		1	3.216865e-02	0	0	0	2	0	280	1285
CHRNA9	55584	broad.mit.edu	37	4	40351281	40351281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351281C>T	ENST00000310169.2	+	4	887	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	250					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)			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)	CCCATGCGTCCTCATATCTTT	0.517																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(748-750)Ctc>Ttc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Galantamine(DB00674)|Nicotine(DB00184)						336.0	331.0	332.0					4																	40351281		2203	4300	6503	SO:0001583	missense	55584	0	0					g.chr4:40351281C>T	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.748C>T	chr4.hg19:g.40351281C>T	ENSP00000312663:p.Leu250Phe	0						p.L250F	NM_017581.3	NP_060051.2	1	2	3	1.998139	Q9UGM1	ACHA9_HUMAN		4	887	+			Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	1	0	hg19	c.748C>T	CCDS3459.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425570	0.62733	.	.	ENSG00000174343	ENST00000310169	D	0.91464	-2.85	5.55	5.55	0.83447	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.056571	0.64402	D	0.000001	D	0.93900	0.8048	M	0.76838	2.35	0.54753	D	0.999988	D	0.63046	0.992	D	0.73380	0.98	D	0.92735	0.6203	10	0.40728	T	0.16	.	8.2977	0.31995	0.1566:0.7597:0.0:0.0836	.	250	Q9UGM1	ACHA9_HUMAN	F	250	ENSP00000312663:L250F	ENSP00000312663:L250F	L	+	1	0	0	CHRNA9	40046038	40046038	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.650000	0.46665	2.627000	0.88993	0.561000	0.74099	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	1	0	0		17	2	2	0		0	1	491		491	485	1	2.060000	-20.000000	1	0.170000				406	402		1935	1908	1		1			0	0	491	0		1	0	0	0	0	0	0	406	1935
RBM47	54502	broad.mit.edu	37	4	40440179	40440179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000381793.2	-	3	1128	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000381795.6_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	244					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627																																						ENST00000381793.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(730-732)acC>acT		RNA binding motif protein 47							132.0	108.0	116.0					4																	40440179		2203	4300	6503	SO:0001819	synonymous_variant	54502	0	0					g.chr4:40440179G>A	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.732C>T	chr4.hg19:g.40440179G>A		0					RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.T244T	p.T244T			1	2	3	1.998139	A0AV96	RBM47_HUMAN		3	1128	-			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	1	1	hg19	c.732C>T	CCDS43223.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-2.783008	1	0.170000	NM_019027			115	116		505	498	1		1	1		0	0	116	0		1	1	0	35	0	86	0	115	505
RBM47	54502	broad.mit.edu	37	4	40440380	40440380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000381793.2	-	3	927	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000319592.4_Silent_p.G177G|RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000381795.6_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	177	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)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632																																						ENST00000381793.2	1.000000	0.420000	7.400000e-01	5.100000e-01	0.600000	0.633671	0.600000	0.600000																										0				29						c.(529-531)ggC>ggT		RNA binding motif protein 47							71.0	63.0	66.0					4																	40440380		2203	4299	6502	SO:0001819	synonymous_variant	54502	0	0					g.chr4:40440380G>A	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.531C>T	chr4.hg19:g.40440380G>A		0					RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000319592.4_Silent_p.G177G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.G177G	p.G177G			1	2	3	1.998139	A0AV96	RBM47_HUMAN		3	927	-			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	1	1	hg19	c.531C>T	CCDS43223.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-3.075842	1	0.170000	NM_019027			34	34		636	629	0		1	1		0	0	124	0		1	9.066031e-01	0	7	0	70	0	34	636
RBM47	54502	broad.mit.edu	37	4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000381793.2	-	3	787	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I|RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	131	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627																																						ENST00000381793.2	1.000000	0.540000	1	6.600000e-01	0.810000	0.818386	0.810000	1.000000																										0				29						c.(391-393)Ctc>Atc		RNA binding motif protein 47							57.0	48.0	51.0					4																	40440520		2203	4300	6503	SO:0001583	missense	54502	0	0					g.chr4:40440520G>T	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.391C>A	chr4.hg19:g.40440520G>T	ENSP00000371212:p.Leu131Ile	0					RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I	p.L131I			1	2	3	1.998139	A0AV96	RBM47_HUMAN		3	787	-			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	1	1	hg19	c.391C>A	CCDS43223.1	0	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219834	0.79464	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.57436	1.75;0.4;1.75;0.4;0.4;1.75;0.4;0.4;0.4	5.44	5.44	0.79542	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.65975	2.015	0.80722	D	1	D;P	0.61697	0.99;0.933	D;D	0.72982	0.979;0.928	T	0.73414	-0.3990	10	0.59425	D	0.04	-25.2838	19.2511	0.93926	0.0:0.0:1.0:0.0	.	131;131	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	131;131;131;131;93;131;131;131;131	ENSP00000320108:L131I;ENSP00000371212:L131I;ENSP00000371214:L131I;ENSP00000295971:L131I;ENSP00000423243:L93I;ENSP00000422564:L131I;ENSP00000421589:L131I;ENSP00000423527:L131I;ENSP00000426542:L131I	ENSP00000295971:L131I	L	-	1	0	0	RBM47	40135277	40135277	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.888000	0.87302	2.554000	0.86153	0.313000	0.20887	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_019027			25	24		344	343	0		1	1		0	0	63	0		9.999998e-01	9.851757e-01	0	17	0	78	0	25	344
RBM47	54502	broad.mit.edu	37	4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000381793.2	-	3	781	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C|RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627																																						ENST00000381793.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(385-387)Cgt>Tgt		RNA binding motif protein 47							59.0	50.0	53.0					4																	40440526		2203	4300	6503	SO:0001583	missense	54502	0	0					g.chr4:40440526G>A	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.385C>T	chr4.hg19:g.40440526G>A	ENSP00000371212:p.Arg129Cys	0					RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C	p.R129C			1	2	3	1.998139	A0AV96	RBM47_HUMAN		3	781	-			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	1	1	hg19	c.385C>T	CCDS43223.1	1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026464	0.54683	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.44	4.56	0.56223	5.44	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.024	D;B	0.63703	0.917;0.075	T	0.06534	-1.0821	10	0.87932	D	0	-17.4793	13.1056	0.59246	0.0:0.0:0.6489:0.3511	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129C;ENSP00000371212:R129C;ENSP00000371214:R129C;ENSP00000295971:R129C;ENSP00000423243:R91C;ENSP00000422564:R129C;ENSP00000421589:R129C;ENSP00000423527:R129C;ENSP00000426542:R129C	ENSP00000295971:R129C	R	-	1	0	0	RBM47	40135283	40135283	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.959000	0.56744	2.554000	0.86153	0.313000	0.20887	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_019027			64	63		313	311	1		1	1		0	0	64	0		1	9.999978e-01	0	38	0	57	0	64	313
NSUN7	79730	broad.mit.edu	37	4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000381782.2	+	6	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	223							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289																																						ENST00000381782.2	1.000000	0.570000	1	7.000000e-01	0.850000	0.847085	0.850000	1.000000																										0				12						c.(667-669)aaG>aaT		NOP2/Sun domain family, member 7							60.0	69.0	66.0					4																	40776811		2197	4266	6463	SO:0001583	missense	79730	0	0					g.chr4:40776811G>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.669G>T	chr4.hg19:g.40776811G>T	ENSP00000371201:p.Lys223Asn	0					NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	p.K223N	NM_024677.4	NP_078953	1	2	3	1.998139	Q8NE18	NSUN7_HUMAN		6	1164	+			C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	1	1	hg19	c.669G>T	CCDS3461.2	1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890198	0.52014	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.27	4.43	0.53597	5.27	4.43	0.53597	.	0.255535	0.43416	D	0.000572	T	0.16769	0.0403	L	0.58810	1.83	0.37223	D	0.905312	P;B;P	0.44946	0.846;0.404;0.842	B;B;P	0.45971	0.372;0.376;0.499	T	0.07233	-1.0783	10	0.41790	T	0.15	-11.7078	13.5116	0.61515	0.0758:0.0:0.9242:0.0	.	223;223;223	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	223	ENSP00000371201:K223N;ENSP00000319127:K223N	ENSP00000319127:K223N	K	+	3	2	2	NSUN7	40471568	40471568	1.000000	0.71417	0.822000	0.32727	0.942000	0.58702	2.565000	0.45939	1.351000	0.45789	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-2.966596	1	0.170000	NM_024677			27	26		354	351	0		1	0		0	0	85	0		1	8.922434e-02	0	0	0	7	0	27	354
NSUN7	79730	broad.mit.edu	37	4	40776916	40776916	+	Silent	SNP	A	A	G	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000381782.2	+	6	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	258							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284																																						ENST00000381782.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(772-774)aaA>aaG		NOP2/Sun domain family, member 7							38.0	42.0	41.0					4																	40776916		2189	4268	6457	SO:0001819	synonymous_variant	79730	0	0					g.chr4:40776916A>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.774A>G	chr4.hg19:g.40776916A>G		0					NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	p.K258K	NM_024677.4	NP_078953	1	2	3	1.998139	Q8NE18	NSUN7_HUMAN		6	1269	+			C9JI19|Q8N9K8|Q9H815	Silent	SNP	ENST00000381782.2	1	1	hg19	c.774A>G	CCDS3461.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.607153	1	0.170000	NM_024677			36	34		145	141	0		1	1		0	0	40	0		1	1.065919e-01	0	2	0	1	0	36	145
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(1585-1587)Cga>Tga		amyloid beta (A4) precursor protein-binding, family B, member 2							130.0	126.0	128.0					4																	40832536		1949	4142	6091	SO:0001587	stop_gained	323	1	120864	28				g.chr4:40832536G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1585C>T	chr4.hg19:g.40832536G>A	ENSP00000295974:p.Arg529*	0					APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*	p.R529*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	1	2	3	1.998139	Q92870	APBB2_HUMAN		13	2214	-			B4DSL4|E9PG87|Q8IUI6	Nonsense_Mutation	SNP	ENST00000295974.8	0	1	hg19	c.1585C>T	CCDS54761.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.202208|12.202208	0.99646|0.99646	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510|ENST00000513611	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.124247|.	0.56097|.	D|.	0.000027|.	.|T	.|0.75102	.|0.3804	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73493	.|-0.3965	.|4	0.02654|.	T|.	1|.	-7.3436|-7.3436	19.2746|19.2746	0.94026|0.94026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	529;528;508;530;508;43|498	.|.	ENSP00000295974:R529X|.	R|S	-|-	1|2	2|0	2|0	APBB2|APBB2	40527293|40527293	40527293|40527293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.565000|2.565000	0.86533|0.86533	0.491000|0.491000	0.48974|0.48974	CGA|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_173075			57	55		331	322	0		1	0		0	0	69	0		1	9.993103e-01	0	1	0	64	0	57	331
PHOX2B	8929	broad.mit.edu	37	4	41749444	41749444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	117					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)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	familial neuroblastoma	yes	Rec	yes	familial neuroblastoma	4	4p12	4p12	8929	Mis, F	paired-like homeobox 2b	yes	yes	congenital central hypoventilation syndrome	O	O		neuroblastoma	neuroblastoma		0				30						c.(349-351)ttC>ttT		paired-like homeobox 2b							62.0	67.0	65.0					4																	41749444		2203	4300	6503	SO:0001819	synonymous_variant	8929	0	0		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	g.chr4:41749444G>A	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.351C>T	chr4.hg19:g.41749444G>A		0					RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	p.F117F	NM_003924.3	NP_003915.2	1	2	3	1.998139	Q99453	PHX2B_HUMAN		2	710	-			Q6PJD9	Silent	SNP	ENST00000226382.2	1	1	hg19	c.351C>T	CCDS3463.1	1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100723	0.06967	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	3.64	0.41730	5.4	3.64	0.41730	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57423	-0.7814	4	.	.	.	.	9.8978	0.41329	0.2116:0.0:0.7884:0.0	.	.	.	.	L	57	.	.	S	-	2	0	0	PHOX2B	41444201	41444201	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.949000	0.29109	1.503000	0.48686	0.655000	0.94253	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2	0	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000				76	74		453	448	1		1			0	0	89	0		1	0	0	0	0	0	0	76	453
SHISA3	152573	broad.mit.edu	37	4	42403028	42403028	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3						multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488																																						ENST00000319234.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.e2-1		shisa family member 3							179.0	179.0	179.0					4																	42403028		2203	4300	6503	SO:0001630	splice_region_variant	152573	0	0					g.chr4:42403028G>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.278-1G>T	chr4.hg19:g.42403028G>T		0							NM_001080505.1	NP_001073974.1	1	2	3	1.998139	A0PJX4	SHSA3_HUMAN		2	495	+			A0PJX3|Q96EQ5	Splice_Site	SNP	ENST00000319234.4	1	1	hg19		CCDS33979.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980950	0.74474	.	.	ENSG00000178343	ENST00000319234	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SHISA3	42097785	42097785	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.582000	0.87167	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	1	0	0		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_001080505	Intron		143	143		641	622	1		1			0	0	119	0		1	0	0	0	0	0	0	143	641
SHISA3	152573	broad.mit.edu	37	4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	117					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512																																						ENST00000319234.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(349-351)gCt>gTt		shisa family member 3							224.0	227.0	226.0					4																	42403101		2203	4300	6503	SO:0001583	missense	152573	0	0					g.chr4:42403101C>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.350C>T	chr4.hg19:g.42403101C>T	ENSP00000326445:p.Ala117Val	0						p.A117V	NM_001080505.1	NP_001073974.1	1	2	3	1.998139	A0PJX4	SHSA3_HUMAN		2	568	+			A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	1	1	hg19	c.350C>T	CCDS33979.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451952	0.84209	.	.	ENSG00000178343	ENST00000319234	T	0.39997	1.05	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67662	-0.5613	10	0.52906	T	0.07	-5.562	17.9622	0.89089	0.0:1.0:0.0:0.0	.	117	A0PJX4	SHSA3_HUMAN	V	117	ENSP00000326445:A117V	ENSP00000326445:A117V	A	+	2	0	0	SHISA3	42097858	42097858	1.000000	0.71417	0.958000	0.39756	0.399000	0.30720	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	1	0	0		2	2	2	0		0	0	258		258	257	1	2.060000	-20.000000	1	0.170000	NM_001080505			297	291		1182	1155	1		1	0		0	0	258	0		1	0	0	0	0	1	0	297	1182
ATP8A1	10396	broad.mit.edu	37	4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1107					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.A1107V(1)|p.A1092V(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)	GAGCAGTTGCGCCCTCTCGGT	0.473																																						ENST00000381668.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A1107V(1)|p.A1092V(1)	endometrium(2)	51						c.(3319-3321)gCg>gTg		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						116.0	108.0	111.0					4																	42416721		2203	4300	6503	SO:0001583	missense	10396	0	0					g.chr4:42416721G>A	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.3320C>T	chr4.hg19:g.42416721G>A	ENSP00000371084:p.Ala1107Val	0					ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	p.A1107V	NM_006095.2	NP_006086.1	1	2	3	1.998139	Q9Y2Q0	AT8A1_HUMAN		36	3551	-			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	1	1	hg19	c.3320C>T	CCDS3466.1	1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684706	0.68157	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61859	0.07;0.07	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.73217	2.22	0.80722	D	1	B;B;P	0.36222	0.181;0.343;0.544	B;B;B	0.21360	0.011;0.034;0.034	T	0.57728	-0.7761	10	0.33940	T	0.23	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1092;1107;1099	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1107;1092	ENSP00000371084:A1107V;ENSP00000264449:A1092V	ENSP00000264449:A1092V	A	-	2	0	0	ATP8A1	42111478	42111478	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.766000	0.91728	2.636000	0.89361	0.557000	0.71058	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.481196	1	0.170000	NM_006095			88	85		375	364	1		1	0		0	0	85	0		1	7.731038e-01	0	0	0	14	0	88	375
ATP8A1	10396	broad.mit.edu	37	4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	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)			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)	GAATGCCTTCGATTCCAAATG	0.343																																						ENST00000381668.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(961-963)Cga>Tga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						74.0	74.0	74.0					4																	42581869		2203	4300	6503	SO:0001587	stop_gained	10396	1	121412	26				g.chr4:42581869G>A	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.961C>T	chr4.hg19:g.42581869G>A	ENSP00000371084:p.Arg321*	0					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	p.R321*	NM_006095.2	NP_006086.1	1	2	3	1.998139	Q9Y2Q0	AT8A1_HUMAN		11	1192	-			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	0	1	hg19	c.961C>T	CCDS3466.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.732964	0.98459	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.86	5.02	0.67125	5.86	5.02	0.67125	.	0.232071	0.39083	N	0.001465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6965	0.45903	0.0681:0.1329:0.799:0.0	.	.	.	.	X	321	.	ENSP00000264449:R321X	R	-	1	2	2	ATP8A1	42276626	42276626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.511000	0.45476	1.604000	0.50143	-0.182000	0.12963	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.412123	1	0.170000	NM_006095			49	48		201	197	1		1	0		0	0	56	0		1	7.547849e-01	0	0	0	13	0	49	201
ATP8A1	10396	broad.mit.edu	37	4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	116					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)			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)	TCTATTATCTCTTTGATAGCT	0.264																																						ENST00000381668.5	1.000000	0.740000	1	9.400000e-01	0.990000	0.972139	0.990000	1.000000																										0				51						c.(346-348)Gag>Tag		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						39.0	41.0	41.0					4																	42626570		2203	4297	6500	SO:0001587	stop_gained	10396	0	0					g.chr4:42626570C>A	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.346G>T	chr4.hg19:g.42626570C>A	ENSP00000371084:p.Glu116*	0					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	p.E116*	NM_006095.2	NP_006086.1	1	2	3	1.998139	Q9Y2Q0	AT8A1_HUMAN		4	577	-			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	0	1	hg19	c.346G>T	CCDS3466.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.813806	0.97857	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8683	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000264449:E116X	E	-	1	0	0	ATP8A1	42321327	42321327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.753000	0.94483	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.318834	1	0.170000	NM_006095			19	18		174	171	1		1	0		0	0	42	0		9.999915e-01	1.584628e-01	0	0	0	7	0	19	174
GRXCR1	389207	broad.mit.edu	37	4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	123					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418																																						ENST00000399770.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(367-369)tTg>tCg		glutaredoxin, cysteine rich 1							100.0	99.0	99.0					4																	42895651		1925	4126	6051	SO:0001583	missense	389207	1	120898	32				g.chr4:42895651T>C		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.368T>C	chr4.hg19:g.42895651T>C	ENSP00000382670:p.Leu123Ser	0					RN7SKP82_ENST00000516786.1_RNA	p.L123S	NM_001080476.2	NP_001073945.1	1	2	3	1.998139	A8MXD5	GRCR1_HUMAN		1	368	+				Missense_Mutation	SNP	ENST00000399770.2	1	1	hg19	c.368T>C	CCDS43225.1	1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111100	0.56398	.	.	ENSG00000215203	ENST00000399770	T	0.21191	2.02	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.56097	U	0.000023	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.09796	-1.0658	10	0.38643	T	0.18	-9.0137	15.4474	0.75240	0.0:0.0:0.0:1.0	.	123	A8MXD5	GRCR1_HUMAN	S	123	ENSP00000382670:L123S	ENSP00000382670:L123S	L	+	2	0	0	GRXCR1	42590408	42590408	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.693000	0.84214	2.247000	0.74100	0.528000	0.53228	TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-20.000000	1	0.170000	NM_001080476			127	125		546	531	1		1			0	0	141	0		1	0	0	0	0	0	0	127	546
KCTD8	386617	broad.mit.edu	37	4	44449580	44449580	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662										HNSCC(17;0.042)																												ENST00000360029.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				41						c.(961-963)Cga>Tga		potassium channel tetramerization domain containing 8							19.0	17.0	17.0					4																	44449580		2198	4300	6498	SO:0001630	splice_region_variant	386617	0	0					g.chr4:44449580G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.961+1C>T	chr4.hg19:g.44449580G>A		0	HNSCC(17;0.042)				AC131951.1_ENST00000584757.1_RNA	p.R321*	NM_198353.2	NP_938167.1	1	2	3	1.998139	Q6ZWB6	KCTD8_HUMAN		1	1244	-			A2RU39	Splice_Site	SNP	ENST00000360029.3	0	1	hg19	c.961C>T	CCDS3467.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.116172	0.98662	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.27	3.33	0.38152	4.27	3.33	0.38152	.	0.146450	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2831	0.37740	0.0:0.0:0.6078:0.3922	.	.	.	.	X	321	.	.	R	-	1	2	2	KCTD8	44144337	44144337	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.944000	0.40263	2.214000	0.71695	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000		Nonsense_Mutation		20	19		84	82	0		1			0	0	15	0		9.999970e-01	0	0	0	0	0	0	20	84
GUF1	60558	broad.mit.edu	37	4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378																																						ENST00000281543.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1285-1287)aCc>aTc		GUF1 GTPase homolog (S. cerevisiae)							103.0	103.0	103.0					4																	44691943		2202	4299	6501	SO:0001583	missense	60558	0	0					g.chr4:44691943C>T		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.1286C>T	chr4.hg19:g.44691943C>T	ENSP00000281543:p.Thr429Ile	0					GUF1_ENST00000506793.1_3'UTR	p.T429I	NM_021927.2	NP_068746.2	1	2	3	1.998139				11	1480	+				Missense_Mutation	SNP	ENST00000281543.5	1	1	hg19	c.1286C>T	CCDS3468.1	1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255489	0.59321	.	.	ENSG00000151806	ENST00000281543	T	0.69175	-0.38	5.76	5.76	0.90799	5.76	5.76	0.90799	Elongation factor G/III/V (1);	0.159713	0.56097	D	0.000023	T	0.53367	0.1792	N	0.24115	0.695	0.37388	D	0.912331	P	0.36222	0.544	B	0.26517	0.07	T	0.63462	-0.6632	10	0.87932	D	0	-11.5246	19.3309	0.94288	0.0:1.0:0.0:0.0	.	429	Q8N442	GUF1_HUMAN	I	429	ENSP00000281543:T429I	ENSP00000281543:T429I	T	+	2	0	0	GUF1	44386700	44386700	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.649000	0.67936	2.880000	0.98712	0.650000	0.86243	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_021927			63	63		329	327	1		1	1		0	0	69	0		1	9.998354e-01	0	24	0	45	0	63	329
GABRA2	2555	broad.mit.edu	37	4	46252622	46252622	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						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)			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)	TTTCTTTTTTCTATTGAAAAA	0.368																																						ENST00000510861.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.e10-1		gamma-aminobutyric acid (GABA) A receptor, alpha 2	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)						48.0	50.0	49.0					4																	46252622		2203	4298	6501	SO:0001630	splice_region_variant	2555	0	0					g.chr4:46252622C>A		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.1060-1G>T	chr4.hg19:g.46252622C>A		0					GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site				1	2	3	1.998139	P47869	GBRA2_HUMAN		10	1233	-			A8K0U7|B7Z1H8|Q59G14	Splice_Site	SNP	ENST00000510861.1	1	1	hg19		CCDS3471.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776042	0.70107	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	5.96	0.96718	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	GABRA2	45947379	45947379	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.647000	0.46639	2.827000	0.97445	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000		Intron		58	58		298	287	0		1			0	0	59	0		1	0	0	0	0	0	0	58	298
GABRA4	2557	broad.mit.edu	37	4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		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	380					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)			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)	ATTGGCATTTGTATTCTGAAA	0.308																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1138-1140)aCa>aTa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	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)						32.0	34.0	33.0					4																	46930768		2201	4295	6496	SO:0001583	missense	2557	0	0					g.chr4:46930768G>A		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.1139C>T	chr4.hg19:g.46930768G>A	ENSP00000264318:p.Thr380Ile	0						p.T380I	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	1	2	3	1.998139	P48169	GBRA4_HUMAN		9	2121	-			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	1	1	hg19	c.1139C>T	CCDS3473.1	1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536456	0.13188	.	.	ENSG00000109158	ENST00000264318	D	0.85861	-2.04	5.61	3.89	0.44902	5.61	3.89	0.44902	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.336666	0.12855	U	0.433617	T	0.78039	0.4221	L	0.40543	1.245	0.30491	N	0.771401	B	0.06786	0.001	B	0.10450	0.005	T	0.67499	-0.5655	10	0.20519	T	0.43	.	9.7323	0.40368	0.1585:0.0:0.8415:0.0	.	380	P48169	GBRA4_HUMAN	I	380	ENSP00000264318:T380I	ENSP00000264318:T380I	T	-	2	0	0	GABRA4	46625525	46625525	1.000000	0.71417	0.015000	0.15790	0.207000	0.24258	2.705000	0.47127	0.744000	0.32741	0.655000	0.94253	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1		2	2	2	0		0	0	30		30	31	1	2.060000	-20.000000	1	0.170000				42	41		149	146	0		1			0	0	30	0		1	0	0	0	0	0	0	42	149
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		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	215					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.P215L(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)	AGACTCCTTCGGAACTTCAAC	0.393																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P215L(1)	haematopoietic_and_lymphoid_tissue(1)	45						c.(643-645)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	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)						116.0	107.0	110.0					4																	46976326		2203	4300	6503	SO:0001583	missense	2557	0	0					g.chr4:46976326G>A		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.644C>T	chr4.hg19:g.46976326G>A	ENSP00000264318:p.Pro215Leu	0						p.P215L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	1	2	3	1.998139	P48169	GBRA4_HUMAN		6	1626	-			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	1	1	hg19	c.644C>T	CCDS3473.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.118152	0.94385	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.34	5.34	0.76211	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85239	0.1037	10	0.62326	D	0.03	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	215	P48169	GBRA4_HUMAN	L	215	ENSP00000264318:P215L	ENSP00000264318:P215L	P	-	2	0	0	GABRA4	46671083	46671083	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-2.505003	1	0.170000				69	69		309	304	1		1			0	0	85	0		1	0	0	0	0	0	0	69	309
GABRA4	2557	broad.mit.edu	37	4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		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	125					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)			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)	CCACACTTTCGTTACCATCAT	0.358																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(373-375)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	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)						106.0	103.0	104.0					4																	46979547		2203	4300	6503	SO:0001583	missense	2557	0	0					g.chr4:46979547G>A		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.374C>T	chr4.hg19:g.46979547G>A	ENSP00000264318:p.Thr125Met	0						p.T125M	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	1	2	3	1.998139	P48169	GBRA4_HUMAN		4	1356	-			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	1	1	hg19	c.374C>T	CCDS3473.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500609	0.64298	.	.	ENSG00000109158	ENST00000264318	T	0.78003	-1.14	5.34	5.34	0.76211	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101631	0.64402	D	0.000003	T	0.68632	0.3022	N	0.14661	0.345	0.38479	D	0.947676	P	0.45986	0.87	P	0.46237	0.508	T	0.75755	-0.3206	10	0.87932	D	0	.	13.8844	0.63699	0.0:0.1523:0.8477:0.0	.	125	P48169	GBRA4_HUMAN	M	125	ENSP00000264318:T125M	ENSP00000264318:T125M	T	-	2	0	0	GABRA4	46674304	46674304	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	2.977000	0.49297	2.776000	0.95493	0.650000	0.86243	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-3.397054	1	0.170000				60	58		247	243	1		1			0	0	76	0		1	0	0	0	0	0	0	60	247
GABRA4	2557	broad.mit.edu	37	4	46995361	46995361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	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	27					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)			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)	CTCACCAAACCGCCAGGCACA	0.607																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(79-81)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	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)						104.0	101.0	102.0					4																	46995361		2203	4300	6503	SO:0001819	synonymous_variant	2557	0	0					g.chr4:46995361C>T		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.81G>A	chr4.hg19:g.46995361C>T		0					GABRA4_ENST00000509316.1_5'UTR	p.A27A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	1	2	3	1.998139	P48169	GBRA4_HUMAN		1	1063	-			Q8IYR7	Silent	SNP	ENST00000264318.3	1	1	hg19	c.81G>A	CCDS3473.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-2.841808	1	0.170000				123	122		682	678	1		1			0	0	110	0		1	0	0	0	0	0	0	123	682
GABRB1	2560	broad.mit.edu	37	4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	119					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)			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)	ACTCTGGGTACCAGACACCTA	0.438																																						ENST00000295454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(355-357)Cca>Tca		gamma-aminobutyric acid (GABA) A receptor, beta 1	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)						153.0	151.0	152.0					4																	47163380		2203	4300	6503	SO:0001583	missense	2560	0	0					g.chr4:47163380C>T		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.355C>T	chr4.hg19:g.47163380C>T	ENSP00000295454:p.Pro119Ser	0					GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	p.P119S	NM_000812.3	NP_000803.2	1	2	3	1.998139	P18505	GBRB1_HUMAN		4	647	+			B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	1	1	hg19	c.355C>T	CCDS3474.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294940	0.81025	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.98550	-4.99;-4.99;-4.99	5.01	5.01	0.66863	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080817	0.50627	D	0.000119	D	0.99162	0.9710	H	0.95574	3.69	0.58432	D	0.999999	D;P	0.69078	0.997;0.573	D;B	0.70487	0.969;0.334	D	0.98945	1.0792	10	0.87932	D	0	-9.8015	12.9232	0.58245	0.0:0.9191:0.0:0.0809	.	49;119	F5GXV5;P18505	.;GBRB1_HUMAN	S	86;119;49	ENSP00000426753:P86S;ENSP00000295454:P119S;ENSP00000440330:P49S	ENSP00000295454:P119S	P	+	1	0	0	GABRB1	46858137	46858137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.611000	0.88343	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000				132	131		592	588	1		1	0		0	0	168	0		1	0	0	0	0	1	0	132	592
GABRB1	2560	broad.mit.edu	37	4	47427969	47427969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					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)			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)	ACAAGTGGTCCCGAATGTTTT	0.483																																						ENST00000295454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1357-1359)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, beta 1	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)						112.0	108.0	109.0					4																	47427969		2203	4300	6503	SO:0001819	synonymous_variant	2560	0	0					g.chr4:47427969C>T		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.1359C>T	chr4.hg19:g.47427969C>T		0					GABRB1_ENST00000538619.1_Silent_p.S383S	p.S453S	NM_000812.3	NP_000803.2	1	2	3	1.998139	P18505	GBRB1_HUMAN		9	1651	+			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	1	1	hg19	c.1359C>T	CCDS3474.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1		2	2	2	0		0	0	161		161	158	1	2.060000	-20.000000	1	0.170000				126	124		762	751	1		1			0	0	161	0		1	0	0	0	0	0	0	126	762
COMMD8	54951	broad.mit.edu	37	4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	111										large_intestine(2)|lung(5)|prostate(1)	8						AGAGGAAATAGCAACTATTTC	0.333																																						ENST00000381571.4	1.000000	0.170000	3.800000e-01	2.200000e-01	0.290000	0.338565	0.290000	0.290000																										0				8						c.(331-333)gCt>gAt		COMM domain containing 8							168.0	178.0	175.0					4																	47458637		2203	4300	6503	SO:0001583	missense	54951	0	0					g.chr4:47458637G>T	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.332C>A	chr4.hg19:g.47458637G>T	ENSP00000370984:p.Ala111Asp	0						p.A111D	NM_017845.3	NP_060315.1	1	2	3	1.998139	Q9NX08	COMD8_HUMAN		3	399	-			Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	1	1	hg19	c.332C>A	CCDS3475.1	0	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273965	0.05679	.	.	ENSG00000169019	ENST00000381571	T	0.09255	3.0	5.82	-2.66	0.06077	5.82	-2.66	0.06077	.	0.478103	0.26007	N	0.026901	T	0.04634	0.0126	N	0.16903	0.455	0.30636	N	0.756965	B	0.13594	0.008	B	0.16289	0.015	T	0.45264	-0.9273	10	0.09338	T	0.73	-15.396	9.0728	0.36502	0.0:0.2362:0.544:0.2199	.	111	Q9NX08	COMD8_HUMAN	D	111	ENSP00000370984:A111D	ENSP00000370984:A111D	A	-	2	0	0	COMMD8	47153394	47153394	0.828000	0.29307	0.959000	0.39883	0.793000	0.44817	0.370000	0.20433	-0.359000	0.08150	-0.410000	0.06199	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	0	0	1		2	2	2	0		0	0	141		141	135	1	2.060000	-2.942423	1	0.170000	NM_017845			18	18		726	706	0		1	1		0	0	141	0		9.999766e-01	8.075615e-01	0	6	0	119	0	18	726
ATP10D	57205	broad.mit.edu	37	4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	620					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)			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						TTGCCCATTAAGTCTTTGGAA	0.423																																						ENST00000273859.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(1858-1860)aAg>aCg		ATPase, class V, type 10D							44.0	48.0	46.0					4																	47559715		2203	4300	6503	SO:0001583	missense	57205	0	0					g.chr4:47559715A>C	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.1859A>C	chr4.hg19:g.47559715A>C	ENSP00000273859:p.Lys620Thr	0					AC092597.3_ENST00000508081.1_RNA	p.K620T	NM_020453.3	NP_065186.3	1	2	3	1.998139	Q9P241	AT10D_HUMAN		12	2128	+			A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	1	1	hg19	c.1859A>C	CCDS3476.1	1	.	.	.	.	.	.	.	.	.	.	A	4.975	0.181158	0.09443	.	.	ENSG00000145246	ENST00000273859	T	0.39406	1.08	5.48	2.82	0.32997	5.48	2.82	0.32997	HAD-like domain (1);	0.217737	0.46145	D	0.000317	T	0.23572	0.0570	N	0.25286	0.73	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.04946	-1.0916	10	0.08179	T	0.78	-19.5022	8.3194	0.32119	0.7755:0.1404:0.0841:0.0	.	620	Q9P241	AT10D_HUMAN	T	620	ENSP00000273859:K620T	ENSP00000273859:K620T	K	+	2	0	0	ATP10D	47254472	47254472	1.000000	0.71417	0.951000	0.38953	0.020000	0.10135	4.235000	0.58666	0.875000	0.35847	-0.366000	0.07423	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_020453			61	61		236	236	1		1	1		0	0	43	0		1	9.993149e-01	0	8	0	37	0	61	236
ATP10D	57205	broad.mit.edu	37	4	47560058	47560058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	734					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)			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						CGGCCTTAGTGTATGCCGCCA	0.557																																						ENST00000273859.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2200-2202)gtG>gtA		ATPase, class V, type 10D							93.0	80.0	84.0					4																	47560058		2203	4300	6503	SO:0001819	synonymous_variant	57205	0	0					g.chr4:47560058G>A	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.2202G>A	chr4.hg19:g.47560058G>A		0					AC092597.3_ENST00000508081.1_RNA	p.V734V	NM_020453.3	NP_065186.3	1	2	3	1.998139	Q9P241	AT10D_HUMAN		12	2471	+			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	1	1	hg19	c.2202G>A	CCDS3476.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.360689	1	0.170000	NM_020453			55	55		269	264	1		1	1		0	0	54	0		1	9.994891e-01	0	7	0	51	0	55	269
ATP10D	57205	broad.mit.edu	37	4	47563037	47563037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	871					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)			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						TTGACAACAGGGAAGAATTAC	0.383																																						ENST00000273859.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(2611-2613)agG>agA		ATPase, class V, type 10D							176.0	163.0	168.0					4																	47563037		2203	4300	6503	SO:0001819	synonymous_variant	57205	0	0					g.chr4:47563037G>A	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.2613G>A	chr4.hg19:g.47563037G>A		0					AC092597.3_ENST00000508081.1_RNA	p.R871R	NM_020453.3	NP_065186.3	1	2	3	1.998139	Q9P241	AT10D_HUMAN		14	2882	+			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	1	1	hg19	c.2613G>A	CCDS3476.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.067701	1	0.170000	NM_020453			114	111		498	490	0		1	1		0	0	123	0		1	9.999925e-01	0	10	0	64	0	114	498
ATP10D	57205	broad.mit.edu	37	4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1262					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)			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						ATCATTGGTAGCATCTTGTCT	0.433																																						ENST00000273859.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(3784-3786)aGc>aAc		ATPase, class V, type 10D							262.0	222.0	235.0					4																	47589067		2203	4300	6503	SO:0001583	missense	57205	0	0					g.chr4:47589067G>A	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.3785G>A	chr4.hg19:g.47589067G>A	ENSP00000273859:p.Ser1262Asn	0						p.S1262N	NM_020453.3	NP_065186.3	1	2	3	1.998139	Q9P241	AT10D_HUMAN		22	4054	+			A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	1	1	hg19	c.3785G>A	CCDS3476.1	1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406645	0.62399	.	.	ENSG00000145246	ENST00000273859	T	0.63255	-0.03	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91347	0.5101	10	0.87932	D	0	-6.3784	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1262	Q9P241	AT10D_HUMAN	N	1262	ENSP00000273859:S1262N	ENSP00000273859:S1262N	S	+	2	0	0	ATP10D	47283824	47283824	1.000000	0.71417	0.984000	0.44739	0.005000	0.04900	9.515000	0.98015	2.665000	0.90641	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_020453			89	87		413	408	1		1	0		0	0	95	0		1	9.996960e-01	0	1	0	56	0	89	413
CORIN	10699	broad.mit.edu	37	4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	688	LDL-receptor class A 7. {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)			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						TCACCACAGTCCCATTCATCT	0.478																																						ENST00000273857.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				79						c.(2062-2064)Gac>Tac		corin, serine peptidase		C	TYR/ASP	3,4403	6.2+/-15.9	0,3,2200	200.0	143.0	163.0		2062	3.5	1.0	4	dbSNP_134	163	0,8600		0,0,4300	no	missense	CORIN	NM_006587.2	160	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	probably-damaging	688/1043	47645169	3,13003	2203	4300	6503	SO:0001583	missense	10699	12	121412	42				g.chr4:47645169C>A	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.2062G>T	chr4.hg19:g.47645169C>A	ENSP00000273857:p.Asp688Tyr	0					CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y	p.D688Y	NM_006587.2	NP_006578.2	1	2	3	1.998139	Q9Y5Q5	CORIN_HUMAN		15	2061	-			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	1	1	hg19	c.2062G>T	CCDS3477.1	1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268349	0.59540	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	6.17	3.55	0.40652	6.17	3.55	0.40652	Speract/scavenger receptor-related (1);Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.433392	0.26601	N	0.023478	D	0.96463	0.8846	M	0.67953	2.075	0.43808	D	0.996366	D;D;D	0.76494	0.989;0.992;0.999	P;P;D	0.71870	0.905;0.879;0.975	D	0.94733	0.7911	10	0.46703	T	0.11	.	9.3009	0.37845	0.0:0.7321:0.0:0.2679	.	651;621;688	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	Y	688;549;621;651;651	ENSP00000273857:D688Y;ENSP00000425597:D549Y;ENSP00000424212:D621Y;ENSP00000425401:D651Y;ENSP00000423216:D651Y	ENSP00000273857:D688Y	D	-	1	0	0	CORIN	47339926	47339926	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.339000	0.33885	0.492000	0.27815	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-4.938275	1	0.170000				47	47		257	249	1		1	0		0	0	75	0		1	9.874867e-01	0	0	0	40	0	47	257
CORIN	10699	broad.mit.edu	37	4	47788906	47788906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000273857.4	-	3	244	c.245G>A	c.(244-246)aGt>aAt	p.S82N	CORIN_ENST00000505909.1_Missense_Mutation_p.S82N|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000508498.1_De_novo_Start_OutOfFrame|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	82					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)			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						CAAAGGTTCACTCCCATTTGA	0.348																																						ENST00000273857.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				79						c.(244-246)aGt>aAt		corin, serine peptidase							70.0	65.0	67.0					4																	47788906		2203	4300	6503	SO:0001583	missense	10699	0	0					g.chr4:47788906C>T	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.245G>A	chr4.hg19:g.47788906C>T	ENSP00000273857:p.Ser82Asn	0					CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000508498.1_De_novo_Start_OutOfFrame|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N	p.S82N	NM_006587.2	NP_006578.2	1	2	3	1.998139	Q9Y5Q5	CORIN_HUMAN		3	244	-			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	1	0	hg19	c.245G>A	CCDS3477.1	1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889134	0.33348	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93712	-2.74;-2.65;-3.27	4.78	3.93	0.45458	4.78	3.93	0.45458	.	0.273464	0.34628	N	0.003803	D	0.89389	0.6701	N	0.20986	0.625	0.32522	N	0.53616	P;P;P	0.48764	0.915;0.888;0.627	B;P;B	0.47102	0.397;0.537;0.196	D	0.91141	0.4945	10	0.62326	D	0.03	.	11.2784	0.49180	0.0:0.8161:0.1839:0.0	.	82;82;82	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	82	ENSP00000273857:S82N;ENSP00000425401:S82N;ENSP00000423216:S82N	ENSP00000273857:S82N	S	-	2	0	0	CORIN	47483663	47483663	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	2.087000	0.41653	1.385000	0.46445	0.558000	0.71614	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000				33	33		139	136	1		1	0		0	0	27	0		1	9.606098e-01	0	0	0	25	0	33	139
TEC	7006	broad.mit.edu	37	4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478																																						ENST00000381501.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1393-1395)Gta>Ata		tec protein tyrosine kinase							211.0	186.0	194.0					4																	48147173		2203	4300	6503	SO:0001583	missense	7006	1	121412	34				g.chr4:48147173C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1393G>A	chr4.hg19:g.48147173C>T	ENSP00000370912:p.Val465Ile	0					TEC_ENST00000511471.2_5'UTR	p.V465I	NM_003215.2	NP_003206.2	1	2	3	1.998139	P42680	TEC_HUMAN		14	1550	-			B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	1	1	hg19	c.1393G>A	CCDS3481.1	1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964254	0.18583	.	.	ENSG00000135605	ENST00000381501	D	0.82433	-1.61	5.61	-6.45	0.01914	5.61	-6.45	0.01914	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.303290	0.04815	N	0.435902	T	0.65365	0.2684	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52990	-0.8501	10	0.33940	T	0.23	.	11.6645	0.51366	0.0824:0.2632:0.0:0.6544	.	465	P42680	TEC_HUMAN	I	465	ENSP00000370912:V465I	ENSP00000370912:V465I	V	-	1	0	0	TEC	47841930	47841930	0.000000	0.05858	0.010000	0.14722	0.975000	0.68041	-3.266000	0.00534	-1.167000	0.02779	0.491000	0.48974	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000				131	129		601	587	1		1	1		0	0	144	0		1	6.614370e-01	0	4	0	8	0	131	601
TEC	7006	broad.mit.edu	37	4	48151572	48151572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333																																						ENST00000381501.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.e11+1		tec protein tyrosine kinase							149.0	142.0	144.0					4																	48151572		2203	4300	6503	SO:0001630	splice_region_variant	7006	0	0					g.chr4:48151572A>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1006+1T>C	chr4.hg19:g.48151572A>G		0					TEC_ENST00000511471.2_Splice_Site		NM_003215.2	NP_003206.2	1	2	3	1.998139	P42680	TEC_HUMAN		11	1164	-			B7ZKZ6|Q3MIS5	Splice_Site	SNP	ENST00000381501.3	1	1	hg19		CCDS3481.1	1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311049	0.40895	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.8	5.8	0.92144	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TEC	47846329	47846329	1.000000	0.71417	0.981000	0.43875	0.135000	0.20990	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.999950	1	0.170000		Intron		46	45		234	226	1		1			0	0	58	0		1	0	0	0	0	0	0	46	234
SLC10A4	201780	broad.mit.edu	37	4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.V190L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617																																						ENST00000273861.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V190L(1)	ovary(1)	6						c.(568-570)Gtt>Att		solute carrier family 10, member 4							54.0	48.0	50.0					4																	48486146		2203	4300	6503	SO:0001583	missense	201780	0	0					g.chr4:48486146G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.568G>A	chr4.hg19:g.48486146G>A	ENSP00000273861:p.Val190Ile	0						p.V190I	NM_152679.3	NP_689892.1	1	2	3	1.998139	Q96EP9	NTCP4_HUMAN		1	787	+			Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	1	1	hg19	c.568G>A	CCDS3482.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953974	0.73902	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.83	4.99	0.66335	5.83	4.99	0.66335	.	0.111035	0.64402	D	0.000011	T	0.20170	0.0485	M	0.62723	1.935	0.44976	D	0.997994	P	0.41710	0.76	P	0.45538	0.484	T	0.00855	-1.1539	10	0.54805	T	0.06	-23.9258	17.0391	0.86483	0.0:0.1272:0.8728:0.0	.	190	Q96EP9	NTCP4_HUMAN	I	190	ENSP00000273861:V190I	ENSP00000273861:V190I	V	+	1	0	0	SLC10A4	48180903	48180903	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.366000	0.73095	1.460000	0.47911	0.491000	0.48974	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_152679			67	67		280	279	1		1			0	0	51	0		1	0	0	0	0	0	0	67	280
ZAR1	326340	broad.mit.edu	37	4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	416					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512																																						ENST00000327939.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.993775	0.990000	1.000000																										0				5						c.(1246-1248)aGc>aTc		zygote arrest 1							99.0	100.0	100.0					4																	48496233		2203	4300	6503	SO:0001583	missense	326340	0	0					g.chr4:48496233G>T	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.1247G>T	chr4.hg19:g.48496233G>T	ENSP00000329803:p.Ser416Ile	0						p.S416I	NM_175619.1	NP_783318.1	1	2	3	1.998139	Q86SH2	ZAR1_HUMAN		4	1287	+				Missense_Mutation	SNP	ENST00000327939.4	1	1	hg19	c.1247G>T	CCDS3483.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211478	0.58343	.	.	ENSG00000182223	ENST00000327939	.	.	.	5.97	5.13	0.70059	5.97	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.71490	-0.4577	9	0.87932	D	0	-28.6385	15.234	0.73413	0.0672:0.0:0.9328:0.0	.	416	Q86SH2	ZAR1_HUMAN	I	416	.	ENSP00000329803:S416I	S	+	2	0	0	ZAR1	48190990	48190990	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	6.328000	0.72915	1.542000	0.49330	-0.140000	0.14226	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-14.346700	1	0.170000				40	39		346	343	0		1			0	0	65	0		1	0	0	0	0	0	0	40	346
FRYL	285527	broad.mit.edu	37	4	48501642	48501642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000503238.1	-	61	8838	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000537810.1_Silent_p.L2947L|FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000507873.2_Silent_p.L337L			O94915	FRYL_HUMAN	FRY-like	2947					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						ATATGTAACAGTGTCTGTACA	0.423																																						ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(8839-8841)Ctg>Ttg		FRY-like							124.0	117.0	119.0					4																	48501642		1868	4112	5980	SO:0001819	synonymous_variant	285527	0	0					g.chr4:48501642G>A	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.8839C>T	chr4.hg19:g.48501642G>A		0					FRYL_ENST00000537810.1_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000507873.2_Silent_p.L337L	p.L2947L			1	2	3	1.998139	O94915	FRYL_HUMAN		61	8838	-			O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	1	1	hg19	c.8839C>T	CCDS43227.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				97	95		349	346	1		1	1		0	0	82	0		1	9.999042e-01	0	4	0	47	0	97	349
FRYL	285527	broad.mit.edu	37	4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000503238.1	-	60	8714	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M|FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M			O94915	FRYL_HUMAN	FRY-like	2905					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						TTAAAGAATGAATGGCAGTTT	0.373																																						ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(8713-8715)atT>atG		FRY-like							89.0	87.0	87.0					4																	48502115		1826	4077	5903	SO:0001583	missense	285527	0	0					g.chr4:48502115A>C	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.8715T>G	chr4.hg19:g.48502115A>C	ENSP00000426064:p.Ile2905Met	0					FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M	p.I2905M			1	2	3	1.998139	O94915	FRYL_HUMAN		60	8714	-			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	1	1	hg19	c.8715T>G	CCDS43227.1	1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826638	0.71143	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25579	1.79;1.79;1.79	5.95	2.33	0.28932	5.95	2.33	0.28932	.	0.071684	0.53938	U	0.000056	T	0.36303	0.0962	L	0.50333	1.59	0.54753	D	0.999988	P;P;D	0.63880	0.586;0.821;0.993	P;P;P	0.61477	0.602;0.776;0.889	T	0.04885	-1.0920	10	0.52906	T	0.07	.	8.3532	0.32314	0.7613:0.0:0.2387:0.0	.	2905;2905;295	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2905;2905;2905;295;295	ENSP00000426064:I2905M;ENSP00000351113:I2905M;ENSP00000441114:I2905M	ENSP00000264319:I295M	I	-	3	3	3	FRYL	48196872	48196872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.077000	0.50089	0.509000	0.28195	0.402000	0.26972	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		18	2	2	0		0	1	60		60	60	1	2.060000	-20.000000	1	0.170000				59	59		278	277	1		1	1		0	0	60	0		9.999999e-01	9.742890e-01	0	5	0	25	0	59	278
FRYL	285527	broad.mit.edu	37	4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000503238.1	-	59	8496	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*			O94915	FRYL_HUMAN	FRY-like	2833					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						TATAATCTTCGGCAGAGCTCC	0.303																																						ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(8497-8499)Cga>Tga		FRY-like							142.0	136.0	138.0					4																	48503735		1803	4078	5881	SO:0001587	stop_gained	285527	0	0					g.chr4:48503735G>A	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.8497C>T	chr4.hg19:g.48503735G>A	ENSP00000426064:p.Arg2833*	0					FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*	p.R2833*			1	2	3	1.998139	O94915	FRYL_HUMAN		59	8496	-			O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	0	1	hg19	c.8497C>T	CCDS43227.1	1	.	.	.	.	.	.	.	.	.	.	G	53	20.455387	0.99931	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	4.53	0.55603	5.45	4.53	0.55603	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8329	0.70162	0.0:0.0:0.8146:0.1854	.	.	.	.	X	2833;2833;2833;223;223	.	ENSP00000264319:R223X	R	-	1	2	2	FRYL	48198492	48198492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.270000	0.78493	1.216000	0.43427	0.484000	0.47621	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		17	2	2	0		0	1	119		119	119	1	2.060000	-3.368601	1	0.170000				101	100		464	455	1		1	1		0	0	119	0		1	9.999725e-01	0	14	0	57	0	101	464
FRYL	285527	broad.mit.edu	37	4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000503238.1	-	56	8335	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D|FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D			O94915	FRYL_HUMAN	FRY-like	2779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						CAACTCCAAAACACCAAACTT	0.418																																						ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				91						c.(8335-8337)gTt>gAt		FRY-like							89.0	85.0	86.0					4																	48512134		1870	4123	5993	SO:0001583	missense	285527	0	0					g.chr4:48512134A>T	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.8336T>A	chr4.hg19:g.48512134A>T	ENSP00000426064:p.Val2779Asp	0					FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D	p.V2779D			1	2	3	1.998139	O94915	FRYL_HUMAN		56	8335	-			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	1	1	hg19	c.8336T>A	CCDS43227.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058218	0.76074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.32515	1.46;1.46;1.45	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000007	T	0.60612	0.2282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.992;0.997;1.0	D;D;D	0.91635	0.944;0.975;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.3783	0.83418	1.0:0.0:0.0:0.0	.	2779;2779;175	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	D	2779;2779;2779;175;175	ENSP00000426064:V2779D;ENSP00000351113:V2779D;ENSP00000441114:V2779D	ENSP00000264319:V175D	V	-	2	0	0	FRYL	48206891	48206891	1.000000	0.71417	0.957000	0.39632	0.293000	0.27360	7.065000	0.76727	2.261000	0.74972	0.477000	0.44152	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-19.998840	1	0.170000				41	41		198	197	1		1	1		0	0	65	0		1	9.995892e-01	0	20	0	40	0	41	198
FRYL	285527	broad.mit.edu	37	4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A	rs368798359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000503238.1	-	21	2683	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000358350.4_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like	895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						TGGGGTAGACGCCAGCGTCTC	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15934	0.0		0.0	False		,,,				2504	0.0					ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(2683-2685)gCg>gTg		FRY-like		G	VAL/ALA	1,3805		0,1,1902	131.0	132.0	132.0		2684	5.3	1.0	4		132	0,8276		0,0,4138	no	missense	FRYL	NM_015030.1	64	0,1,6040	AA,AG,GG		0.0,0.0263,0.0083	probably-damaging	895/3014	48578084	1,12081	1903	4138	6041	SO:0001583	missense	285527	2	120826	36				g.chr4:48578084G>A	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.2684C>T	chr4.hg19:g.48578084G>A	ENSP00000426064:p.Ala895Val	0					FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.A895V	p.A895V			1	2	3	1.998139	O94915	FRYL_HUMAN		21	2683	-			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	1	1	hg19	c.2684C>T	CCDS43227.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967701	0.74131	2.63E-4	0.0	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.68439	0.3001	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.979	D;B	0.65874	0.939;0.359	T	0.70479	-0.4860	10	0.62326	D	0.03	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	895;895	F2Z2S2;O94915	.;FRYL_HUMAN	V	895	ENSP00000426064:A895V;ENSP00000351113:A895V;ENSP00000441114:A895V;ENSP00000421584:A895V	ENSP00000351113:A895V	A	-	2	0	0	FRYL	48272841	48272841	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.623000	0.83113	2.430000	0.82344	0.467000	0.42956	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		2	2	2	0		0	0	167		167	167	1	2.060000	-20.000000	1	0.170000				118	117		598	586	1		1	1		0	0	167	0		1	9.670570e-01	0	3	0	27	0	118	598
FRYL	285527	broad.mit.edu	37	4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000503238.1	-	10	1013	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						ACAAACAGTTCTGTAGGAAAA	0.313																																						ENST00000503238.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				91						c.(1012-1014)caG>caT		FRY-like							60.0	59.0	60.0					4																	48604058		1802	4052	5854	SO:0001583	missense	285527	0	0					g.chr4:48604058C>A	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.1014G>T	chr4.hg19:g.48604058C>A	ENSP00000426064:p.Gln338His	0					FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H	p.Q338H			1	2	3	1.998139	O94915	FRYL_HUMAN		10	1013	-			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	1	1	hg19	c.1014G>T	CCDS43227.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213028	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.14;-0.2	5.54	-0.577	0.11727	5.54	-0.577	0.11727	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.60715	0.2290	N	0.19112	0.55	0.80722	D	1	P;D	0.55605	0.891;0.972	P;P	0.57425	0.601;0.82	T	0.59172	-0.7504	10	0.49607	T	0.09	.	11.0087	0.47651	0.0:0.4995:0.0:0.5004	.	338;338	F2Z2S2;O94915	.;FRYL_HUMAN	H	338;338;338;338;44	ENSP00000426064:Q338H;ENSP00000351113:Q338H;ENSP00000441114:Q338H;ENSP00000421584:Q338H;ENSP00000425592:Q44H	ENSP00000351113:Q338H	Q	-	3	2	2	FRYL	48298815	48298815	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	0.257000	0.18369	-0.072000	0.12864	-0.140000	0.14226	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-19.995110	1	0.170000				39	38		185	181	1		1	1		0	0	63	0		1	7.630983e-01	0	2	0	13	0	39	185
FRYL	285527	broad.mit.edu	37	4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000503238.1	-	8	784	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000358350.4_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						AAGTGCATGTTTTATATCTTT	0.308																																						ENST00000503238.1	1.000000	0.260000	6.200000e-01	3.500000e-01	0.460000	0.500754	0.460000	0.440000																										0				91						c.(784-786)aAa>aCa		FRY-like							112.0	115.0	114.0					4																	48607807		1825	4090	5915	SO:0001583	missense	285527	0	0					g.chr4:48607807T>G	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.785A>C	chr4.hg19:g.48607807T>G	ENSP00000426064:p.Lys262Thr	0					FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K262T	p.K262T			1	2	3	1.998139	O94915	FRYL_HUMAN		8	784	-			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	1	1	hg19	c.785A>C	CCDS43227.1	0	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839186	0.91117	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.2	5.66	5.66	0.87406	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.82660	0.5085	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.982;0.998	D	0.85140	0.0980	10	0.72032	D	0.01	.	15.8777	0.79178	0.0:0.0:0.0:1.0	.	262;262	F2Z2S2;O94915	.;FRYL_HUMAN	T	262	ENSP00000426064:K262T;ENSP00000351113:K262T;ENSP00000441114:K262T;ENSP00000421584:K262T	ENSP00000351113:K262T	K	-	2	0	0	FRYL	48302564	48302564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.151000	0.67156	0.482000	0.46254	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-15.497350	1	0.170000				15	14		380	371	0		1	0		0	0	67	0		9.998517e-01	2.231449e-01	0	1	0	21	0	15	380
OCIAD1	54940	broad.mit.edu	37	4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000381473.3	+	4	596	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	60	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284																																						ENST00000381473.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995770	0.990000	1.000000																										0				9						c.(178-180)Gga>Tga		OCIA domain containing 1							67.0	67.0	67.0					4																	48844691		2196	4291	6487	SO:0001587	stop_gained	54940	0	0					g.chr4:48844691G>T	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.178G>T	chr4.hg19:g.48844691G>T	ENSP00000370882:p.Gly60*	0					OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*	p.G60*	NM_001079839.2	NP_001073308.1	1	2	3	1.998139	Q9NX40	OCAD1_HUMAN		4	596	+			C9K030|G8JLN7|Q9BZE8	Nonsense_Mutation	SNP	ENST00000381473.3	0	1	hg19	c.178G>T	CCDS3484.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826178	0.90955	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.295147	0.36482	N	0.002563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.612	10.8701	0.46879	0.0862:0.0:0.9138:0.0	.	.	.	.	X	60;33;60;33;60;60;60;60;60;60;60;60;60;60;60;6;6;6;6;60;60;60	.	ENSP00000264312:G60X	G	+	1	0	0	OCIAD1	48539448	48539448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.785000	0.95823	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.775040	1	0.170000	NM_017830			25	25		190	187	1		1	1		0	0	55	0		9.999999e-01	1	0	14	0	294	0	25	190
OCIAD1	54940	broad.mit.edu	37	4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000381473.3	+	5	654	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000425583.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	79	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259																																						ENST00000381473.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(235-237)cTt>cGt		OCIA domain containing 1							73.0	73.0	73.0					4																	48850458		2203	4293	6496	SO:0001583	missense	54940	0	0					g.chr4:48850458T>G	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.236T>G	chr4.hg19:g.48850458T>G	ENSP00000370882:p.Leu79Arg	0					OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000425583.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R	p.L79R	NM_001079839.2	NP_001073308.1	1	2	3	1.998139	Q9NX40	OCAD1_HUMAN		5	654	+			C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	1	1	hg19	c.236T>G	CCDS3484.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280375	0.80692	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.120460	0.56097	D	0.000038	T	0.61899	0.2384	L	0.55481	1.735	0.41182	D	0.98624	D;D;D;D	0.65815	0.995;0.995;0.995;0.991	D;P;P;D	0.64776	0.929;0.861;0.861;0.913	T	0.65467	-0.6161	10	0.72032	D	0.01	-12.937	13.6181	0.62121	0.0:0.0:0.0:1.0	.	52;79;79;79	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	R	79;52;52;79;79;79;79;79;79;79;79;79;79;79;25;25;25;25;79;79;79	ENSP00000423381:L79R;ENSP00000424041:L52R;ENSP00000423126:L52R;ENSP00000423845:L79R;ENSP00000424252:L79R;ENSP00000420917:L79R;ENSP00000264312:L79R;ENSP00000379725:L79R;ENSP00000426386:L79R;ENSP00000426902:L79R;ENSP00000427389:L79R;ENSP00000370882:L79R;ENSP00000399656:L79R;ENSP00000425633:L79R;ENSP00000420881:L25R;ENSP00000427363:L25R;ENSP00000425356:L25R;ENSP00000425968:L25R;ENSP00000416943:L79R;ENSP00000423002:L79R;ENSP00000423909:L79R	ENSP00000264312:L79R	L	+	2	0	0	OCIAD1	48545215	48545215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.087000	0.62958	0.528000	0.53228	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.259	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_017830			38	37		107	105	1		1	1		0	0	37	0		1	1	0	63	0	256	0	38	107
CWH43	80157	broad.mit.edu	37	4	48994109	48994109	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000226432.4	+	4	694		c.e4+2		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368																																						ENST00000226432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.e4+2		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							132.0	118.0	123.0					4																	48994109		2203	4300	6503	SO:0001630	splice_region_variant	80157	0	0					g.chr4:48994109T>C		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.511+2T>C	chr4.hg19:g.48994109T>C		0					CWH43_ENST00000513409.1_Splice_Site		NM_025087.2	NP_079363.2	1	2	3	1.998139	Q9H720	PG2IP_HUMAN		4	694	+			B2RPD7	Splice_Site	SNP	ENST00000226432.4	1	1	hg19		CCDS3486.1	1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059589	0.36373	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.07	0.47477	5.24	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.499	0.39006	0.0:0.0792:0.0:0.9208	.	.	.	.	.	-1	.	.	.	+	.	.	.	CWH43	48688866	48688866	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	3.095000	0.50235	1.024000	0.39682	0.402000	0.26972	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_025087	Intron		49	49		245	242	1		1			0	0	69	0		1	0	0	0	0	0	0	49	245
CWH43	80157	broad.mit.edu	37	4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000226432.4	+	6	926	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	248					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413																																						ENST00000226432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(742-744)gGa>gAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							565.0	430.0	476.0					4																	49000506		2203	4300	6503	SO:0001583	missense	80157	0	0					g.chr4:49000506G>A		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.743G>A	chr4.hg19:g.49000506G>A	ENSP00000226432:p.Gly248Glu	0					CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	p.G248E	NM_025087.2	NP_079363.2	1	2	3	1.998139	Q9H720	PG2IP_HUMAN		6	926	+			B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	1	1	hg19	c.743G>A	CCDS3486.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089447	0.55968	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52526	1.22;0.66	4.16	4.16	0.48862	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000229	T	0.66839	0.2830	M	0.69823	2.125	0.46437	D	0.999042	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	9	.	.	.	.	15.8982	0.79350	0.0:0.0:1.0:0.0	.	248	Q9H720	PG2IP_HUMAN	E	248;221	ENSP00000226432:G248E;ENSP00000422802:G221E	.	G	+	2	0	0	CWH43	48695263	48695263	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	5.658000	0.68003	2.618000	0.88619	0.591000	0.81541	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_025087			74	73		422	415	1		1			0	0	93	0		1	0	0	0	0	0	0	74	422
CWH43	80157	broad.mit.edu	37	4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000226432.4	+	12	1709	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	509					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458																																						ENST00000226432.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1525-1527)aGa>aAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							277.0	242.0	254.0					4																	49034600		2203	4300	6503	SO:0001583	missense	80157	0	0					g.chr4:49034600G>A		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.1526G>A	chr4.hg19:g.49034600G>A	ENSP00000226432:p.Arg509Lys	0					CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	p.R509K	NM_025087.2	NP_079363.2	1	2	3	1.998139	Q9H720	PG2IP_HUMAN		12	1709	+			B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	1	1	hg19	c.1526G>A	CCDS3486.1	1	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764591	0.02996	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.78246	-1.16;-1.16	5.24	5.24	0.73138	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000016	T	0.45955	0.1368	N	0.00652	-1.29	0.38358	D	0.944522	B	0.33022	0.394	B	0.24974	0.057	T	0.58317	-0.7657	9	.	.	.	.	16.7881	0.85579	0.0:0.0:1.0:0.0	.	509	Q9H720	PG2IP_HUMAN	K	509;482	ENSP00000226432:R509K;ENSP00000422802:R482K	.	R	+	2	0	0	CWH43	48729357	48729357	0.998000	0.40836	0.865000	0.33974	0.101000	0.19017	4.487000	0.60293	2.737000	0.93849	0.561000	0.74099	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1		2	2	2	0		0	0	282		282	281	1	2.060000	-20.000000	1	0.170000	NM_025087			199	194		1035	1020	1		1			0	0	282	0		1	0	0	0	0	0	0	199	1035
DCUN1D4	23142	broad.mit.edu	37	4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	62						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393																																						ENST00000334635.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(184-186)Cca>Tca		DCN1, defective in cullin neddylation 1, domain containing 4							127.0	124.0	125.0					4																	52740484		2203	4300	6503	SO:0001583	missense	23142	0	0					g.chr4:52740484C>T	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.184C>T	chr4.hg19:g.52740484C>T	ENSP00000334625:p.Pro62Ser	0					DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000513800.1_3'UTR	p.P62S	NM_001040402.1	NP_001035492.1	1	2	3	1.998139	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)	4	364	+			B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	1	1	hg19	c.184C>T	CCDS33982.1	1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365101	0.82463	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.165490	0.53938	D	0.000041	T	0.62539	0.2436	L	0.39245	1.2	0.53005	D	0.999969	B;D;B	0.58970	0.264;0.984;0.264	B;P;B	0.58780	0.093;0.845;0.178	T	0.56153	-0.8026	9	0.19590	T	0.45	-15.7428	15.8845	0.79232	0.0:1.0:0.0:0.0	.	106;62;62	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	S	62;62;2;106;106	.	ENSP00000334625:P62S	P	+	1	0	0	DCUN1D4	52435241	52435241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.426000	0.82243	0.651000	0.88453	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	1	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_015115			73	71		330	325	1		1	1		0	0	82	0		1	9.988524e-01	0	13	0	35	0	73	330
DCUN1D4	23142	broad.mit.edu	37	4	52740552	52740552	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site|DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4							nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403																																						ENST00000334635.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.e4+1		DCN1, defective in cullin neddylation 1, domain containing 4							98.0	94.0	95.0					4																	52740552		2203	4300	6503	SO:0001630	splice_region_variant	23142	0	0					g.chr4:52740552G>A	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.251+1G>A	chr4.hg19:g.52740552G>A		0					DCUN1D4_ENST00000381437.4_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000513800.1_Splice_Site		NM_001040402.1	NP_001035492.1	1	2	3	1.998139	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)	4	431	+			B4DH25|Q7Z3F3|Q7Z6B8	Splice_Site	SNP	ENST00000334635.5	1	1	hg19		CCDS33982.1	1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216602	0.58452	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DCUN1D4	52435309	52435309	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.843000	0.86859	2.366000	0.80165	0.651000	0.88453	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_015115	Intron		57	55		260	256	1		1	1		0	0	63	0		1	8.803632e-02	0	3	0	0	0	57	260
LRRC66	339977	broad.mit.edu	37	4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	462						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577																																						ENST00000343457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1384-1386)caG>caT		leucine rich repeat containing 66							82.0	88.0	86.0					4																	52861802		2030	4175	6205	SO:0001583	missense	339977	0	0					g.chr4:52861802C>A	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.1386G>T	chr4.hg19:g.52861802C>A	ENSP00000341944:p.Gln462His	0						p.Q462H	NM_001024611.1	NP_001019782.1	1	2	3	1.998139	Q68CR7	LRC66_HUMAN		4	1392	-				Missense_Mutation	SNP	ENST00000343457.3	1	1	hg19	c.1386G>T	CCDS43229.1	1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513089	0.27123	.	.	ENSG00000188993	ENST00000343457	T	0.28255	1.62	2.99	2.14	0.27477	2.99	2.14	0.27477	.	0.859774	0.09688	N	0.768846	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.39660	0.306	T	0.10706	-1.0618	10	0.59425	D	0.04	-0.0013	3.7545	0.08579	0.2394:0.6286:0.0:0.132	.	462	Q68CR7	LRC66_HUMAN	H	462	ENSP00000341944:Q462H	ENSP00000341944:Q462H	Q	-	3	2	2	LRRC66	52556559	52556559	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.063000	0.11655	0.834000	0.34852	0.467000	0.42956	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_001024611			96	91		404	390	1		1	1		0	0	109	0		1	4.733224e-01	0	2	0	6	0	96	404
LRRC66	339977	broad.mit.edu	37	4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	306						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537																																						ENST00000343457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(916-918)cCt>cTt		leucine rich repeat containing 66							53.0	50.0	51.0					4																	52862271		1840	4096	5936	SO:0001583	missense	339977	0	0					g.chr4:52862271G>A	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.917C>T	chr4.hg19:g.52862271G>A	ENSP00000341944:p.Pro306Leu	0						p.P306L	NM_001024611.1	NP_001019782.1	1	2	3	1.998139	Q68CR7	LRC66_HUMAN		4	923	-				Missense_Mutation	SNP	ENST00000343457.3	1	1	hg19	c.917C>T	CCDS43229.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719568	0.48728	.	.	ENSG00000188993	ENST00000343457	T	0.36157	1.27	4.24	1.46	0.22682	4.24	1.46	0.22682	.	0.353469	0.20919	N	0.083305	T	0.22898	0.0553	N	0.24115	0.695	0.20563	N	0.999881	B	0.25272	0.122	B	0.29267	0.1	T	0.17531	-1.0366	10	0.40728	T	0.16	-2.7327	7.8087	0.29217	0.2827:0.0:0.7173:0.0	.	306	Q68CR7	LRC66_HUMAN	L	306	ENSP00000341944:P306L	ENSP00000341944:P306L	P	-	2	0	0	LRRC66	52557028	52557028	0.933000	0.31639	0.006000	0.13384	0.007000	0.05969	1.398000	0.34554	0.136000	0.18733	0.467000	0.42956	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-4.068645	1	0.170000	NM_001024611			62	62		203	202	1		1	1		0	0	59	0		1	1.418113e-01	0	2	0	1	0	62	203
SGCB	6443	broad.mit.edu	37	4	52899737	52899737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52899737C>A	ENST00000381431.5	-	2	325	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	35					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)				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)			CTGTTGTGCTCTTTATTGACA	0.408																																						ENST00000381431.5	1.000000	0.250000	5.600000e-01	3.300000e-01	0.420000	0.465610	0.420000	0.410000																										0				17						c.(103-105)Gag>Tag		sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)							233.0	203.0	213.0					4																	52899737		2203	4300	6503	SO:0001587	stop_gained	6443	0	0					g.chr4:52899737C>A	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.103G>T	chr4.hg19:g.52899737C>A	ENSP00000370839:p.Glu35*	0					SGCB_ENST00000535450.1_Intron	p.E35*	NM_000232.4	NP_000223.1	1	2	3	1.998139	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)	2	325	-			B7Z635|O00661	Nonsense_Mutation	SNP	ENST00000381431.5	0	1	hg19	c.103G>T	CCDS3488.1	0	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275395	0.59649	.	.	ENSG00000163069	ENST00000381431	.	.	.	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.921	0.88966	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000370839:E35X	E	-	1	0	0	SGCB	52594494	52594494	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	7.750000	0.85110	2.476000	0.83614	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-2.883377	1	0.170000				17	15		467	457	0		1	0		0	0	102	0		9.999583e-01	8.775867e-01	0	0	0	104	0	17	467
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					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.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443																																						ENST00000295213.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.K404N(2)	lung(2)	41						c.(1210-1212)aaG>aaT		spermatogenesis associated 18							289.0	270.0	277.0					4																	52945942		2203	4300	6503	SO:0001583	missense	132671	0	0					g.chr4:52945942G>T	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.1212G>T	chr4.hg19:g.52945942G>T	ENSP00000295213:p.Lys404Asn	0					SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	p.K404N	NM_145263.2	NP_660306.1	1	2	3	1.998139	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)	9	1586	+			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	1	1	hg19	c.1212G>T	CCDS3489.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	2	SPATA18	52640699	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	1	0	0		2	2	2	0		0	0	213		213	205	1	2.060000	-20.000000	1	0.170000	NM_145263			247	241		1112	1081	1		1	1		0	0	213	0		1	9.730202e-01	0	2	0	26	0	247	1112
SPATA18	132671	broad.mit.edu	37	4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000295213.4	+	9	1603	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	410					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)				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)			TTCCCTCCTGTCGTTGACTTT	0.443																																						ENST00000295213.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999828	0.990000	1.000000																										0				41						c.(1228-1230)gTc>gCc		spermatogenesis associated 18							292.0	273.0	279.0					4																	52945959		2203	4300	6503	SO:0001583	missense	132671	0	0					g.chr4:52945959T>C	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.1229T>C	chr4.hg19:g.52945959T>C	ENSP00000295213:p.Val410Ala	0					SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	p.V410A	NM_145263.2	NP_660306.1	1	2	3	1.998139	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)	9	1603	+			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	1	1	hg19	c.1229T>C	CCDS3489.1	1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995522	0.35226	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27720	1.65;4.33	5.55	4.36	0.52297	5.55	4.36	0.52297	.	0.153319	0.56097	D	0.000021	T	0.15565	0.0375	N	0.08118	0	0.22827	N	0.998686	B;B;B	0.28258	0.01;0.017;0.205	B;B;B	0.21708	0.009;0.009;0.036	T	0.15378	-1.0439	10	0.56958	D	0.05	-12.8994	9.9848	0.41835	0.8421:0.0:0.0:0.1579	.	378;410;410	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	A	410;378	ENSP00000295213:V410A;ENSP00000415309:V378A	ENSP00000295213:V410A	V	+	2	0	0	SPATA18	52640716	52640716	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.017000	0.64047	1.108000	0.41662	-0.339000	0.08088	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	0	0	0		2	2	2	0		0	0	217		217	210	1	2.060000	-20.000000	1	0.170000	NM_145263			138	132		1188	1163	1		1	0		0	0	217	0		1	8.466951e-01	0	1	0	30	0	138	1188
USP46	64854	broad.mit.edu	37	4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000451218.2_Missense_Mutation_p.R246H|USP46_ENST00000508499.1_Missense_Mutation_p.R266H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	273	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532																																						ENST00000441222.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(817-819)cGt>cAt		ubiquitin specific peptidase 46							123.0	123.0	123.0					4																	53468125		2095	4228	6323	SO:0001583	missense	64854	2	121048	37				g.chr4:53468125C>T	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.818G>A	chr4.hg19:g.53468125C>T	ENSP00000407818:p.Arg273His	0					USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	p.R273H	NM_022832.3	NP_073743.2	1	2	3	1.998139	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)	7	1002	-			B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	1	1	hg19	c.818G>A	CCDS47053.1	1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628849	0.67015	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000035	T	0.52354	0.1729	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.971;0.964;0.939	T	0.51663	-0.8677	10	0.59425	D	0.04	-13.6899	18.0298	0.89279	0.0:1.0:0.0:0.0	.	157;261;273;266	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	273;246;266	ENSP00000407818:R273H;ENSP00000390102:R246H;ENSP00000423244:R266H	ENSP00000407818:R273H	R	-	2	0	0	USP46	53162882	53162882	1.000000	0.71417	0.937000	0.37676	0.011000	0.07611	7.776000	0.85560	2.559000	0.86315	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_022832			71	70		244	240	1		1	1		0	0	61	0		1	9.992786e-01	0	8	0	32	0	71	244
RASL11B	65997	broad.mit.edu	37	4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502																																						ENST00000248706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(568-570)gTc>gCc		RAS-like, family 11, member B							173.0	170.0	171.0					4																	53731794		2203	4300	6503	SO:0001583	missense	65997	0	0					g.chr4:53731794T>C	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.569T>C	chr4.hg19:g.53731794T>C	ENSP00000248706:p.Val190Ala	0					RASL11B_ENST00000505041.1_3'UTR	p.V190A	NM_023940.2	NP_076429.1	1	2	3	1.998139			LUSC - Lung squamous cell carcinoma(32;0.0302)	4	787	+				Missense_Mutation	SNP	ENST00000248706.3	1	1	hg19	c.569T>C	CCDS3490.1	1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071696	0.55646	.	.	ENSG00000128045	ENST00000248706	D	0.82167	-1.58	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93249	0.6633	10	0.87932	D	0	.	14.9182	0.70815	0.0:0.0:0.0:1.0	.	190	Q9BPW5	RSLBB_HUMAN	A	190	ENSP00000248706:V190A	ENSP00000248706:V190A	V	+	2	0	0	RASL11B	53426551	53426551	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	7.694000	0.84235	2.099000	0.63709	0.533000	0.62120	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	1	0	1		2	2	2	0		0	0	195		195	194	1	2.060000	-20.000000	1	0.170000	NM_023940			175	173		822	818	1		1	0		0	0	195	0		1	9.478669e-01	0	0	0	25	0	175	822
RASL11B	65997	broad.mit.edu	37	4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562																																						ENST00000248706.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				9						c.(709-711)Gcc>Tcc		RAS-like, family 11, member B							60.0	56.0	57.0					4																	53731934		2203	4300	6503	SO:0001583	missense	65997	0	0					g.chr4:53731934G>T	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.709G>T	chr4.hg19:g.53731934G>T	ENSP00000248706:p.Ala237Ser	0					RASL11B_ENST00000505041.1_3'UTR	p.A237S	NM_023940.2	NP_076429.1	1	2	3	1.998139			LUSC - Lung squamous cell carcinoma(32;0.0302)	4	927	+				Missense_Mutation	SNP	ENST00000248706.3	1	1	hg19	c.709G>T	CCDS3490.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855242	0.91355	.	.	ENSG00000128045	ENST00000248706	T	0.71103	-0.54	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.044956	0.85682	D	0.000000	T	0.76695	0.4023	L	0.58810	1.83	0.80722	D	1	D	0.56968	0.978	P	0.50754	0.649	T	0.77632	-0.2515	10	0.56958	D	0.05	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	237	Q9BPW5	RSLBB_HUMAN	S	237	ENSP00000248706:A237S	ENSP00000248706:A237S	A	+	1	0	0	RASL11B	53426691	53426691	1.000000	0.71417	0.959000	0.39883	0.832000	0.47134	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_023940			37	36		194	192	1		1	0		0	0	51	0		1	9.592929e-01	0	0	0	30	0	37	194
SCFD2	152579	broad.mit.edu	37	4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	559					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					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)			AACATATACAGACTTAAACTG	0.378																																						ENST00000401642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1675-1677)tCt>tTt		sec1 family domain containing 2							95.0	98.0	97.0					4																	53786923		2203	4300	6503	SO:0001583	missense	152579	0	0					g.chr4:53786923G>A	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.1676C>T	chr4.hg19:g.53786923G>A	ENSP00000384182:p.Ser559Phe	0					SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	p.S559F	NM_152540.3	NP_689753.2	1	2	3	1.998139	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)	6	1809	-			Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	1	1	hg19	c.1676C>T	CCDS33984.1	1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553179	0.65425	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78816	-1.11;-1.21	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.053112	0.85682	D	0.000000	D	0.85137	0.5628	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.83956	0.0319	10	0.40728	T	0.16	.	13.5539	0.61749	0.0:0.0:1.0:0.0	.	559;559	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	559	ENSP00000384182:S559F;ENSP00000373592:S559F	ENSP00000373592:S559F	S	-	2	0	0	SCFD2	53481680	53481680	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.436000	0.66538	2.659000	0.90383	0.561000	0.74099	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.269308	1	0.170000	NM_152540			59	60		284	281	1		1	1		0	0	65	0		1	9.965697e-01	0	9	0	35	0	59	284
SCFD2	152579	broad.mit.edu	37	4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	231					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					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)			CTCCCGTACTCCTAAATGTTC	0.527																																						ENST00000401642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(691-693)gGa>gAa		sec1 family domain containing 2							122.0	114.0	117.0					4																	54231417		2203	4300	6503	SO:0001583	missense	152579	0	0					g.chr4:54231417C>T	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.692G>A	chr4.hg19:g.54231417C>T	ENSP00000384182:p.Gly231Glu	0					SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	p.G231E	NM_152540.3	NP_689753.2	1	2	3	1.998139	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)	1	825	-			Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	1	1	hg19	c.692G>A	CCDS33984.1	1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732558	0.69189	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.050423	0.85682	D	0.000000	D	0.89298	0.6675	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.86623	0.1880	10	0.30854	T	0.27	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	231;231	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	231	ENSP00000384182:G231E;ENSP00000373592:G231E	ENSP00000373592:G231E	G	-	2	0	0	SCFD2	53926174	53926174	0.428000	0.25522	0.953000	0.39169	0.317000	0.28152	1.947000	0.40293	2.873000	0.98535	0.561000	0.74099	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-3.112986	1	0.170000	NM_152540			93	92		390	387	1		1	1		0	0	111	0		1	9.991241e-01	0	10	0	36	0	93	390
SCFD2	152579	broad.mit.edu	37	4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					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)			TTTGGCCAGCACCTGCTCCCA	0.622																																						ENST00000401642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(49-51)gTg>gCg		sec1 family domain containing 2							47.0	52.0	50.0					4																	54232059		2203	4300	6503	SO:0001583	missense	152579	0	0					g.chr4:54232059A>G	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.50T>C	chr4.hg19:g.54232059A>G	ENSP00000384182:p.Val17Ala	0					SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	p.V17A	NM_152540.3	NP_689753.2	1	2	3	1.998139	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)	1	183	-			Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	1	1	hg19	c.50T>C	CCDS33984.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432887	0.83776	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.59364	0.29;0.27	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.51422	1.61	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.72494	-0.4276	10	0.72032	D	0.01	.	13.3568	0.60633	1.0:0.0:0.0:0.0	.	17;17	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	17	ENSP00000384182:V17A;ENSP00000373592:V17A	ENSP00000373592:V17A	V	-	2	0	0	SCFD2	53926816	53926816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.317000	0.78254	0.459000	0.35465	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1		29	5	2	2		2	2	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_152540			59	59		283	281	1		1	0		2	0	50	0		9.997898e-01	5.779635e-01	0	4	0	25	0	59	283
FIP1L1	81608	broad.mit.edu	37	4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000337488.6	+	10	954	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K254Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	254	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)			TCCATCTACAAAAGCTGAGTT	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4q12	4q12	81608	T	FIP1 like 1 (S. cerevisiae)				L	L	PDGFRA		idiopathic hypereosinophilic syndrome		0				6						c.(760-762)Aaa>Caa		factor interacting with PAPOLA and CPSF1							170.0	165.0	167.0					4																	54265951		2203	4300	6503	SO:0001583	missense	81608	0	0					g.chr4:54265951A>C	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.760A>C	chr4.hg19:g.54265951A>C	ENSP00000336752:p.Lys254Gln	0					FIP1L1_ENST00000507166.1_Missense_Mutation_p.K254Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q	p.K254Q	NM_030917.3	NP_112179.2	1	2	3	1.998139	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)	10	954	+			B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	1	1	hg19	c.760A>C	CCDS3491.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609676	0.87258	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.996;0.985;0.997;0.999	T	0.54629	-0.8265	10	0.20046	T	0.44	-23.9796	15.6962	0.77502	1.0:0.0:0.0:0.0	.	239;58;239;216;254;239	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	Q	254;239;239;216;254	ENSP00000336752:K254Q;ENSP00000351383:K239Q;ENSP00000425456:K239Q;ENSP00000302993:K216Q;ENSP00000423325:K254Q	ENSP00000302993:K216Q	K	+	1	0	0	FIP1L1	53960708	53960708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.168000	0.68352	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_030917			70	66		354	347	1		1	1		0	0	102	0		1	1	0	31	0	174	0	70	354
FIP1L1	81608	broad.mit.edu	37	4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	492	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)			CGTGATCACAGTCCTACACCA	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4q12	4q12	81608	T	FIP1 like 1 (S. cerevisiae)				L	L	PDGFRA		idiopathic hypereosinophilic syndrome		0				6						c.(1474-1476)aGt>aTt		factor interacting with PAPOLA and CPSF1							73.0	64.0	67.0					4																	54319276		2203	4300	6503	SO:0001583	missense	81608	0	0					g.chr4:54319276G>T	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.1475G>T	chr4.hg19:g.54319276G>T	ENSP00000336752:p.Ser492Ile	0					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I	p.S492I	NM_030917.3	NP_112179.2	1	2	3	1.998139	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)	16	1669	+			B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	1	1	hg19	c.1475G>T	CCDS3491.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397827	0.83120	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.23348	1.91;1.91;2.44	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	D;D;D;D	0.71870	0.975;0.944;0.975;0.962	T	0.46762	-0.9168	10	0.87932	D	0	-18.3904	19.2835	0.94061	0.0:0.0:1.0:0.0	.	486;486;418;492	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	I	492;486;418;149	ENSP00000336752:S492I;ENSP00000351383:S486I;ENSP00000302993:S418I	ENSP00000302993:S418I	S	+	2	0	0	FIP1L1	54014033	54014033	1.000000	0.71417	0.965000	0.40720	0.791000	0.44710	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	1	0	1		2	2	2	0		0	0	57		57	58	1	2.060000	-20.000000	1	0.170000	NM_030917			70	70		310	294	1		1	1		0	0	57	0		1	1	0	84	0	178	0	70	310
LNX1	84708	broad.mit.edu	37	4	54343147	54343147	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000263925.7	-	9	1979	c.1665T>C	c.(1663-1665)ggT>ggC	p.G555G	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Splice_Site_p.G459G	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	555	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)			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)			ACAAAATGTCACCTGATGGCC	0.483																																						ENST00000263925.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1663-1665)ggT>ggC		ligand of numb-protein X 1, E3 ubiquitin protein ligase							103.0	103.0	103.0					4																	54343147		2203	4300	6503	SO:0001630	splice_region_variant	84708	0	0					g.chr4:54343147A>G	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.1664-1T>C	chr4.hg19:g.54343147A>G		0					FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Splice_Site_p.G459G	p.G555G	NM_001126328.2	NP_001119800.1	1	2	3	1.998139	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)	9	1979	-	all_neural(26;0.153)		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	SNP	ENST00000263925.7	1	0	hg19	c.1665T>C	CCDS47057.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000		Silent		97	95		424	418	1		1	1		0	0	116	0		1	9.920777e-01	0	17	0	18	0	97	424
GSX2	170825	broad.mit.edu	37	4	54966712	54966712	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	ENST00000326902.2	+	1	515	c.201G>A	c.(199-201)tcG>tcA	p.S67S	GSX2_ENST00000503800.1_Silent_p.S67S|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	67					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGTCACTTCGCACCTGCACT	0.751																																						ENST00000326902.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				6						c.(199-201)tcG>tcA		GS homeobox 2							14.0	15.0	15.0					4																	54966712		2201	4295	6496	SO:0001819	synonymous_variant	170825	0	0					g.chr4:54966712G>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.201G>A	chr4.hg19:g.54966712G>A		0					FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.S67S	p.S67S	NM_133267.2	NP_573574.1	1	2	3	1.998139	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)	1	515	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)			Silent	SNP	ENST00000326902.2	0	1	hg19	c.201G>A	CCDS3494.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	0	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_133267			20	20		71	70	0		1	0		0	0	20	0		9.999979e-01	5.284832e-02	0	0	0	2	0	20	71
GSX2	170825	broad.mit.edu	37	4	54967769	54967769	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54967769G>T	ENST00000326902.2	+	2	909	c.595G>T	c.(595-597)Gta>Tta	p.V199L	AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	199					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCCAGCCAGGTACCCAATGG	0.587																																						ENST00000326902.2	1.000000	0.250000	6.600000e-01	3.400000e-01	0.470000	0.513651	0.470000	0.440000																										0				6						c.(595-597)Gta>Tta		GS homeobox 2							59.0	63.0	62.0					4																	54967769		2203	4300	6503	SO:0001583	missense	170825	0	0					g.chr4:54967769G>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.595G>T	chr4.hg19:g.54967769G>T	ENSP00000319118:p.Val199Leu	0					FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S	p.V199L	NM_133267.2	NP_573574.1	1	2	3	1.998139	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)	2	909	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)			Missense_Mutation	SNP	ENST00000326902.2	0	1	hg19	c.595G>T	CCDS3494.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.120|4.120	0.020448|0.020448	0.08006|0.08006	.|.	.|.	ENSG00000180613|ENSG00000180613	ENST00000503800|ENST00000326902	T|D	0.44881|0.95447	0.91|-3.71	4.9|4.9	3.97|3.97	0.46021|0.46021	4.9|4.9	3.97|3.97	0.46021|0.46021	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.599177	.|0.17438	.|N	.|0.174220	D|D	0.84763|0.84763	0.5544|0.5544	N|N	0.04508|0.04508	-0.205|-0.205	0.20196|0.20196	N|N	0.99992|0.99992	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.71210|0.71210	-0.4660|-0.4660	7|10	0.23302|0.10902	T|T	0.38|0.67	.|.	6.1955|6.1955	0.20548|0.20548	0.1326:0.1976:0.6698:0.0|0.1326:0.1976:0.6698:0.0	.|.	.|199	.|Q9BZM3	.|GSX2_HUMAN	S|L	128|199	ENSP00000422213:R128S|ENSP00000319118:V199L	ENSP00000422213:R128S|ENSP00000319118:V199L	R|V	+|+	3|1	2|0	2|0	GSX2|GSX2	54662526|54662526	54662526|54662526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.948000|0.948000	0.59901|0.59901	2.792000|2.792000	0.47837|0.47837	2.535000|2.535000	0.85469|0.85469	0.484000|0.484000	0.47621|0.47621	AGG|GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-12.281310	1	0.170000	NM_133267			11	11		275	273	0		1			0	0	71	0		9.983583e-01	0	0	0	0	0	0	11	275
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					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)			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)	GTAGCCCTGCGTTCTGAACTC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4q11-q13	4q11-q13	5156	Mis, O, T	"""platelet-derived growth factor, alpha-receptor"""				"""L, M, O"""	L, M, O	FIP1L1		GIST, idiopathic hypereosinophilic syndrome, paediatric GBM		0				967						c.(1564-1566)cGt>cAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)						166.0	150.0	155.0					4																	55140704		2203	4300	6503	SO:0001583	missense	5156	3	121412	40	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	g.chr4:55140704G>A	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.1565G>A	chr4.hg19:g.55140704G>A	ENSP00000257290:p.Arg522His	0	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.R522H	NM_006206.4	NP_006197.1	1	2	3	1.998139	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	11	1896	+	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)		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	1	1	hg19	c.1565G>A	CCDS3495.1	1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	0	PDGFRA	54835461	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_006206			101	99		412	405	1		1	0		0	0	78	0		1	1	0	0	0	245	0	101	412
PDGFRA	5156	broad.mit.edu	37	4	55156501	55156501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156501G>A	ENST00000257290.5	+	22	3233	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	968					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)			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)	AATTCACCTGGACTTCCTGAA	0.393			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5	1.000000	0.250000	6.400000e-01	3.400000e-01	0.460000	0.504370	0.460000	0.440000				Dom	yes			Dom	yes		4	4q11-q13	4q11-q13	5156	Mis, O, T	"""platelet-derived growth factor, alpha-receptor"""				"""L, M, O"""	L, M, O	FIP1L1		GIST, idiopathic hypereosinophilic syndrome, paediatric GBM		0				967						c.(2902-2904)Gac>Aac		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)						84.0	82.0	83.0					4																	55156501		2203	4300	6503	SO:0001583	missense	5156	0	0		Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	g.chr4:55156501G>A	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.2902G>A	chr4.hg19:g.55156501G>A	ENSP00000257290:p.Asp968Asn	0	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	p.D968N	NM_006206.4	NP_006197.1	1	2	3	1.998139	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	22	3233	+	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)		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	0	1	hg19	c.2902G>A	CCDS3495.1	0	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561135	0.86335	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78003	-1.14;-0.95	5.9	5.05	0.67936	5.9	5.05	0.67936	.	0.000000	0.33813	U	0.004525	D	0.82379	0.5024	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.59825	0.864	T	0.79014	-0.1976	10	0.15066	T	0.55	.	17.0757	0.86585	0.0:0.127:0.873:0.0	.	968	P16234	PGFRA_HUMAN	N	728;968	ENSP00000423325:D728N;ENSP00000257290:D968N	ENSP00000423325:D728N	D	+	1	0	0	FIP1L1;PDGFRA	54851258	54851258	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.473000	0.81007	1.495000	0.48549	-0.181000	0.13052	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-12.866560	1	0.170000	NM_006206			12	11		305	295	0		1	0		0	0	83	0		9.989612e-01	9.994273e-01	0	0	0	337	0	12	305
PDGFRA	5156	broad.mit.edu	37	4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1014					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.A1014_S1016delADS(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4q11-q13	4q11-q13	5156	Mis, O, T	"""platelet-derived growth factor, alpha-receptor"""				"""L, M, O"""	L, M, O	FIP1L1		GIST, idiopathic hypereosinophilic syndrome, paediatric GBM		2	Deletion - In frame(2)	p.A1014_S1016delADS(2)	liver(2)	967						c.(3040-3042)Gct>Act		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)						189.0	156.0	167.0					4																	55156639		2203	4300	6503	SO:0001583	missense	5156	2	121412	37	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	g.chr4:55156639G>A	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.3040G>A	chr4.hg19:g.55156639G>A	ENSP00000257290:p.Ala1014Thr	0	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	p.A1014T	NM_006206.4	NP_006197.1	1	2	3	1.998139	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	22	3371	+	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)		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	1	0	hg19	c.3040G>A	CCDS3495.1	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123092	0.56613	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77229	-1.08;-0.9	5.93	5.08	0.68730	5.93	5.08	0.68730	.	0.000000	0.31976	U	0.006774	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P	0.40360	0.714	B	0.24541	0.054	T	0.62058	-0.6934	10	0.11182	T	0.66	.	14.5376	0.67971	0.0697:0.0:0.9303:0.0	.	1014	P16234	PGFRA_HUMAN	T	774;1014	ENSP00000423325:A774T;ENSP00000257290:A1014T	ENSP00000423325:A774T	A	+	1	0	0	FIP1L1;PDGFRA	54851396	54851396	1.000000	0.71417	0.854000	0.33618	0.934000	0.57294	5.717000	0.68446	2.814000	0.96858	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	0	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_006206			104	104		448	435	1		1	0		0	0	91	0		1	1	0	0	0	420	0	104	448
KIT	3815	broad.mit.edu	37	4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		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	212	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)			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)	CAAAGCTGTGCCTGTTGTGTC	0.388		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																													ENST00000288135.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	4q12	3815	Mis, O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	yes	Piebald trait	"""L, M, O, E"""	L, M, O, E		GIST, epithelioma	GIST, AML, TGCT, mastocytosis, mucosal melanoma		0				6411						c.(634-636)Cct>Tct		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						130.0	114.0	120.0					4																	55565810		2203	4300	6503	SO:0001583	missense	3815	0	0		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	g.chr4:55565810C>T	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.634C>T	chr4.hg19:g.55565810C>T	ENSP00000288135:p.Pro212Ser	0						p.P212S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	1	2	3	1.998139	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	4	731	+	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)		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	1	1	hg19	c.634C>T	CCDS3496.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985470	0.53934	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.88124	-2.34;-2.34	5.74	5.74	0.90152	5.74	5.74	0.90152	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93341	0.7877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	10	0.59425	D	0.04	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	212;212	P10721-2;P10721	.;KIT_HUMAN	S	212	ENSP00000288135:P212S;ENSP00000390987:P212S	ENSP00000288135:P212S	P	+	1	0	0	KIT	55260567	55260567	0.972000	0.33761	0.180000	0.23079	0.237000	0.25408	4.715000	0.61909	2.707000	0.92482	0.557000	0.71058	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				61	60		302	299	1		1	0		0	0	63	0		1	9.798455e-01	0	0	0	33	0	61	302
KIT	3815	broad.mit.edu	37	4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		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	261	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)			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)	AATATAATAGCTGGCATCACG	0.343		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																													ENST00000288135.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.997987	0.990000	1.000000		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	4q12	3815	Mis, O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	yes	Piebald trait	"""L, M, O, E"""	L, M, O, E		GIST, epithelioma	GIST, AML, TGCT, mastocytosis, mucosal melanoma		0				6411						c.(781-783)agC>agA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	85.0	84.0					4																	55569916		2203	4300	6503	SO:0001583	missense	3815	0	0		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	g.chr4:55569916C>A	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.783C>A	chr4.hg19:g.55569916C>A	ENSP00000288135:p.Ser261Arg	0						p.S261R	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	1	2	3	1.998139	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	5	880	+	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)		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	1	1	hg19	c.783C>A	CCDS3496.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893441	0.52121	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.21031	2.03;2.03	5.24	4.41	0.53225	5.24	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.076622	0.56097	D	0.000031	T	0.41834	0.1176	M	0.68952	2.095	0.41590	D	0.988792	P;D	0.76494	0.807;0.999	B;D	0.74348	0.206;0.983	T	0.26121	-1.0112	10	0.40728	T	0.16	.	12.3268	0.55015	0.0:0.9225:0.0:0.0775	.	261;261	P10721-2;P10721	.;KIT_HUMAN	R	261	ENSP00000288135:S261R;ENSP00000390987:S261R	ENSP00000288135:S261R	S	+	3	2	2	KIT	55264673	55264673	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.267000	0.43329	1.468000	0.48064	0.650000	0.86243	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-14.150580	1	0.170000				33	33		250	245	1		1	0		0	0	66	0		1	9.588685e-01	0	0	0	42	0	33	250
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T	rs192110951	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		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	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs56094246). {ECO:0000269|PubMed:17344846}.		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.S715del(7)		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)	CTCCCAGCAGCGATAGTACTA	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				C|||	2	0.000399361	0.0	0.0	5008	,	,		20107	0.002		0.0	False		,,,				2504	0.0					ENST00000288135.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	4q12	3815	Mis, O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	yes	Piebald trait	"""L, M, O, E"""	L, M, O, E		GIST, epithelioma	GIST, AML, TGCT, mastocytosis, mucosal melanoma		7	Deletion - In frame(7)	p.S715del(7)	soft_tissue(7)	6411						c.(2143-2145)agC>agT		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						110.0	102.0	105.0					4																	55597497		2203	4300	6503	SO:0001819	synonymous_variant	3815	6	121412	38	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	g.chr4:55597497C>T	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.2145C>T	chr4.hg19:g.55597497C>T		0						p.S715S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	1	2	3	1.998139	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	15	2242	+	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)		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	1	1	hg19	c.2145C>T	CCDS3496.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				36	36		184	181	1		1	0		0	0	41	0		1	9.783055e-01	0	0	0	34	0	36	184
KIT	3815	broad.mit.edu	37	4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		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	871	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)			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)	AGCCCCTATCCTGGAATGCCG	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																													ENST00000288135.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	4q12	3815	Mis, O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	yes	Piebald trait	"""L, M, O, E"""	L, M, O, E		GIST, epithelioma	GIST, AML, TGCT, mastocytosis, mucosal melanoma		0				6411						c.(2611-2613)cCt>cAt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						102.0	99.0	100.0					4																	55602902		2203	4300	6503	SO:0001583	missense	3815	0	0		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	g.chr4:55602902C>A	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.2612C>A	chr4.hg19:g.55602902C>A	ENSP00000288135:p.Pro871His	0						p.P871H	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	1	2	3	1.998139	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	19	2709	+	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)		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	1	1	hg19	c.2612C>A	CCDS3496.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454276	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.59	5.59	0.84812	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.90164	0.6926	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90602	0.4545	10	0.87932	D	0	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	867;871	P10721-2;P10721	.;KIT_HUMAN	H	871;867	ENSP00000288135:P871H;ENSP00000390987:P867H	ENSP00000288135:P871H	P	+	2	0	0	KIT	55297659	55297659	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.943000	0.70211	2.625000	0.88918	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-2.893120	1	0.170000				70	70		330	324	1		1	0		0	0	83	0		1	9.978847e-01	0	0	0	46	0	70	330
KDR	3791	broad.mit.edu	37	4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	35					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)			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)	TTTTTGTATGCTGAGCCTGGG	0.348			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		4	4q11-q12	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2				E	E			NSCLC, angiosarcoma		0				135						c.(103-105)aGc>aTc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						129.0	133.0	132.0					4																	55987321		2203	4300	6503	SO:0001583	missense	3791	0	0					g.chr4:55987321C>A	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.104G>T	chr4.hg19:g.55987321C>A	ENSP00000263923:p.Ser35Ile	0	TSP Lung(20;0.16)					p.S35I	NM_002253.2	NP_002244.1	1	2	3	1.998139	P35968	VGFR2_HUMAN	Epithelial(7;0.189)	2	399	-	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)		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	1	1	hg19	c.104G>T	CCDS3497.1	1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476757	0.44044	.	.	ENSG00000128052	ENST00000263923	T	0.35236	1.32	5.83	4.99	0.66335	5.83	4.99	0.66335	Immunoglobulin-like fold (1);	0.086710	0.85682	D	0.000000	T	0.59649	0.2209	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.889	T	0.64158	-0.6473	10	0.72032	D	0.01	.	13.211	0.59825	0.0:0.9264:0.0:0.0736	.	35;35	P35968-2;P35968	.;VGFR2_HUMAN	I	35	ENSP00000263923:S35I	ENSP00000263923:S35I	S	-	2	0	0	KDR	55682078	55682078	1.000000	0.71417	0.987000	0.45799	0.320000	0.28249	2.945000	0.49043	1.478000	0.48253	-0.142000	0.14014	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				61	60		245	241	1		1	0		0	0	56	0		1	9.556325e-01	0	0	0	23	0	61	245
SRD5A3	79644	broad.mit.edu	37	4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	310					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CCGAAGCATAGGAAAGCTTTC	0.433																																						ENST00000264228.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(928-930)aGg>aTg		steroid 5 alpha-reductase 3	Spironolactone(DB00421)						128.0	125.0	126.0					4																	56236230		2203	4300	6503	SO:0001583	missense	79644	0	0					g.chr4:56236230G>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.929G>T	chr4.hg19:g.56236230G>T	ENSP00000264228:p.Arg310Met	0					SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	p.R310M	NM_024592.4	NP_078868.1	1	2	3	1.998139	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)	5	1157	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	1	1	hg19	c.929G>T	CCDS3498.1	1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568963	0.65765	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.61158	0.13;0.13	5.69	5.69	0.88448	5.69	5.69	0.88448	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89071	0.3469	10	0.87932	D	0	-25.3173	19.8051	0.96529	0.0:0.0:1.0:0.0	.	310	Q9H8P0	PORED_HUMAN	M	310;174	ENSP00000264228:R310M;ENSP00000424714:R174M	ENSP00000264228:R310M	R	+	2	0	0	SRD5A3	55930987	55930987	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.624000	0.98398	2.702000	0.92279	0.591000	0.81541	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-2.957160	1	0.170000	NM_024592			136	132		575	560	1		1	1		0	0	129	0		1	1	0	89	0	153	0	136	575
TMEM165	55858	broad.mit.edu	37	4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron|Y_RNA_ENST00000459077.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	118					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448																																						ENST00000381334.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(352-354)gCc>gTc		transmembrane protein 165							117.0	102.0	107.0					4																	56277926		2203	4300	6503	SO:0001583	missense	55858	0	0					g.chr4:56277926C>T	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.353C>T	chr4.hg19:g.56277926C>T	ENSP00000370736:p.Ala118Val	0					Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	p.A118V	NM_018475.4	NP_060945.2	1	2	3	1.998139	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)	2	586	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	1	1	hg19	c.353C>T	CCDS3499.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.366242	0.95900	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82255	-1.59;-1.59	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.979;1.0	D	0.90158	0.4226	10	0.54805	T	0.06	-16.7347	19.3813	0.94536	0.0:1.0:0.0:0.0	.	55;118	B4DHW1;Q9HC07	.;TM165_HUMAN	V	118;55	ENSP00000370736:A118V;ENSP00000437816:A55V	ENSP00000370736:A118V	A	+	2	0	0	TMEM165	55972683	55972683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.798000	0.96311	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_018475			53	53		201	197	1		1	1		0	0	53	0		1	1	0	80	0	191	0	53	201
TMEM165	55858	broad.mit.edu	37	4	56283999	56283999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	213					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333																																						ENST00000381334.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(637-639)ccG>ccA		transmembrane protein 165							79.0	80.0	80.0					4																	56283999		2203	4300	6503	SO:0001819	synonymous_variant	55858	2	121412	31				g.chr4:56283999G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.639G>A	chr4.hg19:g.56283999G>A		0					TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR	p.P213P	NM_018475.4	NP_060945.2	1	2	3	1.998139	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)	4	872	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	1	1	hg19	c.639G>A	CCDS3499.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.043910	1	0.170000	NM_018475			37	37		148	141	1		1	1		0	0	27	0		1	1	0	169	0	519	0	37	148
CLOCK	9575	broad.mit.edu	37	4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A|CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	711	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)			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)			ACTAATTTGGTCACAAGTTGT	0.408																																						ENST00000309964.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				38						c.(2131-2133)Acc>Gcc		clock circadian regulator							83.0	68.0	73.0					4																	56304679		2203	4300	6503	SO:0001583	missense	9575	0	0					g.chr4:56304679T>C	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.2131A>G	chr4.hg19:g.56304679T>C	ENSP00000308741:p.Thr711Ala	0					CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A|CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A	p.T711A	NM_004898.3	NP_004889.1	1	2	3	1.998139	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)	21	2381	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	1	1	hg19	c.2131A>G	CCDS3500.1	1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477432	0.63849	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.093123	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76574	2.34	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.00356	-1.1793	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	711	O15516	CLOCK_HUMAN	A	711	ENSP00000308741:T711A;ENSP00000370723:T711A;ENSP00000426983:T711A	.	T	-	1	0	0	CLOCK	55999436	55999436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_004898			32	32		184	180	1		1	1		0	0	67	0		1	7.413305e-01	0	2	0	15	0	32	184
CLOCK	9575	broad.mit.edu	37	4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	520	Implicated in the circadian rhythmicity. {ECO:0000250}.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {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)			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)			CATGGCTCCTAATTGAGCTGA	0.343																																						ENST00000309964.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1558-1560)tTa>tGa		clock circadian regulator							157.0	137.0	144.0					4																	56310933		2203	4300	6503	SO:0001587	stop_gained	9575	0	0					g.chr4:56310933A>C	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.1559T>G	chr4.hg19:g.56310933A>C	ENSP00000308741:p.Leu520*	0					CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	p.L520*	NM_004898.3	NP_004889.1	1	2	3	1.998139	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)	18	1809	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	0	1	hg19	c.1559T>G	CCDS3500.1	1	.	.	.	.	.	.	.	.	.	.	A	45	11.808693	0.99605	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.317300	0.32533	N	0.005963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000308741:L520X	L	-	2	0	0	CLOCK	56005690	56005690	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	8.730000	0.91510	2.270000	0.75569	0.460000	0.39030	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	0		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_004898			47	47		199	198	0		1	0		0	0	41	0		1	9.960549e-01	0	0	0	39	0	47	199
CLOCK	9575	broad.mit.edu	37	4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	52	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)			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)			tttaatgagaacattAAATTG	0.299																																						ENST00000309964.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999811	0.990000	1.000000																										0				38						c.(154-156)gTt>gGt		clock circadian regulator							54.0	54.0	54.0					4																	56345083		2199	4297	6496	SO:0001583	missense	9575	0	0					g.chr4:56345083A>C	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.155T>G	chr4.hg19:g.56345083A>C	ENSP00000308741:p.Val52Gly	0					CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR	p.V52G	NM_004898.3	NP_004889.1	1	2	3	1.998139	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)	5	405	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	1	1	hg19	c.155T>G	CCDS3500.1	1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817389	0.90790	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	D;D;D	0.97831	-4.56;-4.56;-4.56	6.07	6.07	0.98685	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.165289	0.53938	D	0.000054	D	0.95771	0.8624	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.33121	0.158	D	0.94396	0.7618	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	52	O15516	CLOCK_HUMAN	G	52	ENSP00000308741:V52G;ENSP00000370723:V52G;ENSP00000426983:V52G	ENSP00000308741:V52G	V	-	2	0	0	CLOCK	56039840	56039840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.324000	0.90005	2.326000	0.78906	0.533000	0.62120	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-12.281840	1	0.170000	NM_004898			16	16		67	66	1		1	1		0	0	28	0		9.999602e-01	9.858793e-01	0	2	0	31	0	16	67
CLOCK	9575	broad.mit.edu	37	4	56348963	56348963	+	De_novo_Start_InFrame	SNP	G	G	A	rs367880709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56348963G>A	ENST00000309964.4	-	0	240				CLOCK_ENST00000513440.1_De_novo_Start_InFrame|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_De_novo_Start_InFrame	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						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)			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)			AACATACTACGTTTTCGTCTT	0.284																																						ENST00000309964.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				38								clock circadian regulator		G		0,4404		0,0,2202	93.0	80.0	84.0			4.3	1.0	4		84	1,8593	1.2+/-3.3	0,1,4296	no	utr-5	CLOCK	NM_004898.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077			56348963	1,12997	2202	4297	6499			9575	2	121384	30				g.chr4:56348963G>A	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		chr4.hg19:g.56348963G>A		0					CLOCK_ENST00000381322.1_De_novo_Start_InFrame|CLOCK_ENST00000513440.1_De_novo_Start_InFrame|CLOCK_ENST00000506923.1_5'UTR		NM_004898.3	NP_004889.1	1	2	3	1.998139	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)	0	240	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		A0AV01|A2I2N9|O14516|Q9UIT8	Translation_Start_Site	SNP	ENST00000309964.4	0	1	hg19		CCDS3500.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_004898			22	22		91	90	0		1	1		0	0	22	0		9.999994e-01	9.266511e-01	0	2	0	19	0	22	91
EXOC1	55763	broad.mit.edu	37	4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T	rs546749405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C|EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	867					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.R867C(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)					TTTGATAGCTCGCTGTTATCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.0		0.001	False		,,,				2504	0.0					ENST00000381295.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R867C(1)	central_nervous_system(1)	35						c.(2599-2601)Cgc>Tgc		exocyst complex component 1							193.0	179.0	184.0					4																	56770575		2203	4300	6503	SO:0001583	missense	55763	1	121404	36				g.chr4:56770575C>T	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.2599C>T	chr4.hg19:g.56770575C>T	ENSP00000370695:p.Arg867Cys	0					EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C|EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C	p.R867C	NM_001024924.1	NP_001020095.1	1	2	3	1.998139	Q9NV70	EXOC1_HUMAN		19	2947	+	Glioma(25;0.08)|all_neural(26;0.101)		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	1	1	hg19	c.2599C>T	CCDS3502.1	1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927465	0.73327	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.053203	0.64402	D	0.000001	T	0.76364	0.3977	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66716	0.87;0.946	T	0.79145	-0.1924	9	0.87932	D	0	.	13.7799	0.63077	0.1536:0.8464:0.0:0.0	.	852;867	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	867;867;852	.	ENSP00000326514:R867C	R	+	1	0	0	EXOC1	56465332	56465332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.605000	0.61119	2.437000	0.82529	0.563000	0.77884	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-3.184739	1	0.170000	NM_018261			98	98		399	389	1		1	1		0	0	97	0		1	1	0	54	0	126	0	98	399
CEP135	9662	broad.mit.edu	37	4	56831839	56831839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	286					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)			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)					CTAATAAAGACCTGGAGAAGC	0.328																																						ENST00000257287.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(856-858)gaC>gaT		centrosomal protein 135kDa							52.0	51.0	51.0					4																	56831839		2203	4300	6503	SO:0001819	synonymous_variant	9662	0	0					g.chr4:56831839C>T	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.858C>T	chr4.hg19:g.56831839C>T		0						p.D286D	NM_025009.4	NP_079285.2	1	2	3	1.998139	Q66GS9	CP135_HUMAN		8	982	+	Glioma(25;0.08)|all_neural(26;0.101)		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	1	1	hg19	c.858C>T	CCDS33986.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.999960	1	0.170000	NM_025009			39	38		155	151	1		1	1		0	0	36	0		1	6.302389e-01	0	2	0	8	0	39	155
CEP135	9662	broad.mit.edu	37	4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A	rs376581153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	510					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)			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)					GAACTTCAGCGTATGCTAGAA	0.289																																						ENST00000257287.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1528-1530)cGt>cAt		centrosomal protein 135kDa		G	HIS/ARG	1,4405		0,1,2202	81.0	84.0	83.0		1529	-1.2	0.0	4		83	0,8596		0,0,4298	no	missense	CEP135	NM_025009.3	29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	510/1141	56846364	1,13001	2203	4298	6501	SO:0001583	missense	9662	3	121388	35				g.chr4:56846364G>A	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.1529G>A	chr4.hg19:g.56846364G>A	ENSP00000257287:p.Arg510His	0						p.R510H	NM_025009.4	NP_079285.2	1	2	3	1.998139	Q66GS9	CP135_HUMAN		12	1653	+	Glioma(25;0.08)|all_neural(26;0.101)		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	1	1	hg19	c.1529G>A	CCDS33986.1	1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437961	0.12104	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.44881	0.91	5.87	-1.2	0.09554	5.87	-1.2	0.09554	.	0.926115	0.09460	N	0.799163	T	0.30386	0.0763	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26224	-1.0109	10	0.41790	T	0.15	.	8.4725	0.32993	0.5889:0.1833:0.2278:0.0	.	510	Q66GS9	CP135_HUMAN	H	510	ENSP00000257287:R510H	ENSP00000257287:R510H	R	+	2	0	0	CEP135	56541121	56541121	0.003000	0.15002	0.031000	0.17742	0.916000	0.54674	0.133000	0.15912	-0.254000	0.09500	-0.137000	0.14449	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_025009			61	58		284	280	1		1	1		0	0	97	0		1	4.949571e-01	0	2	0	7	0	61	284
KIAA1211	57482	broad.mit.edu	37	4	57173854	57173854	+	Missense_Mutation	SNP	G	G	A	rs35378328	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57173854G>A	ENST00000504228.1	+	3	379	c.274G>A	c.(274-276)Gca>Aca	p.A92T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A85T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A92T			Q6ZU35	K1211_HUMAN	KIAA1211	92										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)					CCTCTCAGACGCAGAGAACAA	0.522													G|||	17	0.00339457	0.0008	0.0029	5008	,	,		21589	0.001		0.0129	False		,,,				2504	0.0					ENST00000504228.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(274-276)Gca>Aca		KIAA1211		G	THR/ALA	15,3901		0,15,1943	64.0	63.0	63.0		274	-11.0	0.0	4	dbSNP_126	63	159,8153		0,159,3997	yes	missense	KIAA1211	NM_020722.1	58	0,174,5940	AA,AG,GG		1.9129,0.383,1.423	benign	92/1234	57173854	174,12054	1958	4156	6114	SO:0001583	missense	57482	1318	120904	61				g.chr4:57173854G>A	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.274G>A	chr4.hg19:g.57173854G>A	ENSP00000423366:p.Ala92Thr	0					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A92T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A85T	p.A92T			1	2	3	1.998139	Q6ZU35	K1211_HUMAN		3	379	+	Glioma(25;0.08)|all_neural(26;0.101)		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	1	0	hg19	c.274G>A	CCDS43230.1	1	16	0.007326007326007326	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	13	0.017150395778364115	G	0.012	-1.690868	0.00738	0.00383	0.019129	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.10382	2.88;2.88;2.96	5.5	-11.0	0.00169	5.5	-11.0	0.00169	.	.	.	.	.	T	0.00524	0.0017	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28681	-1.0036	9	0.02654	T	1	-2.7146	0.9717	0.01417	0.191:0.2667:0.2836:0.2587	rs35378328	85;92	F5H1N7;Q6ZU35	.;K1211_HUMAN	T	92;92;85	ENSP00000264229:A92T;ENSP00000423366:A92T;ENSP00000444006:A85T	ENSP00000264229:A92T	A	+	1	0	0	KIAA1211	56868611	56868611	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.182000	0.09726	-2.486000	0.00520	-2.484000	0.00197	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-1.656651	0	0.170000	NM_020722			46	44		160	155	1		1	1		0	0	50	0		1	9.999936e-01	0	27	0	40	0	46	160
KIAA1211	57482	broad.mit.edu	37	4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T			Q6ZU35	K1211_HUMAN	KIAA1211	150										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)					CCTGGCCATCGCTCGCCTGGA	0.552																																						ENST00000504228.1	1.000000	0.260000	4.900000e-01	3.200000e-01	0.390000	0.432688	0.390000	0.390000																										0				65						c.(448-450)Gct>Act		KIAA1211							132.0	140.0	137.0					4																	57179456		2052	4173	6225	SO:0001583	missense	57482	0	0					g.chr4:57179456G>A	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.448G>A	chr4.hg19:g.57179456G>A	ENSP00000423366:p.Ala150Thr	0					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T	p.A150T			1	2	3	1.998139	Q6ZU35	K1211_HUMAN		5	553	+	Glioma(25;0.08)|all_neural(26;0.101)		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	1	1	hg19	c.448G>A	CCDS43230.1	0	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301535	0.60195	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14640	2.49;2.49;2.52	5.4	3.64	0.41730	5.4	3.64	0.41730	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.36295	D	0.856633	P;P;P	0.51653	0.947;0.861;0.861	B;B;B	0.42319	0.383;0.123;0.123	T	0.17837	-1.0356	9	0.52906	T	0.07	-15.0899	7.9937	0.30256	0.1378:0.1383:0.7239:0.0	.	143;143;150	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	150;150;143;60	ENSP00000264229:A150T;ENSP00000423366:A150T;ENSP00000444006:A143T	ENSP00000264229:A150T	A	+	1	0	0	KIAA1211	56874213	56874213	0.999000	0.42202	0.978000	0.43139	0.951000	0.60555	3.380000	0.52448	1.261000	0.44149	0.491000	0.48974	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-2.783022	1	0.170000	NM_020722			28	27		825	814	1		1	1		0	0	142	0		1	7.139829e-01	0	9	0	66	0	28	825
KIAA1211	57482	broad.mit.edu	37	4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M			Q6ZU35	K1211_HUMAN	KIAA1211	1220										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)					TTGGCCAAAAGGAAAGCAAAG	0.532																																						ENST00000504228.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3658-3660)aGg>aTg		KIAA1211							87.0	90.0	89.0					4																	57193927		1866	4098	5964	SO:0001583	missense	57482	0	0					g.chr4:57193927G>T	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.3659G>T	chr4.hg19:g.57193927G>T	ENSP00000423366:p.Arg1220Met	0					KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M	p.R1220M			1	2	3	1.998139	Q6ZU35	K1211_HUMAN		9	3764	+	Glioma(25;0.08)|all_neural(26;0.101)		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	1	1	hg19	c.3659G>T	CCDS43230.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009568	0.93346	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	5.69	0.88448	5.69	5.69	0.88448	.	.	.	.	.	D	0.87497	0.6192	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87873	0.2672	9	0.87932	D	0	-14.174	19.817	0.96573	0.0:0.0:1.0:0.0	.	1213;1220	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1220;1220;1213	ENSP00000264229:R1220M;ENSP00000423366:R1220M;ENSP00000444006:R1213M	ENSP00000264229:R1220M	R	+	2	0	0	KIAA1211	56888684	56888684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1		18	4	2	1		1	1	167		167	167	1	2.060000	-2.828965	1	0.170000	NM_020722			160	154		696	684	1		1	1		1	0	167	0		1	9.998587e-01	0	32	0	47	0	160	696
AASDH	132949	broad.mit.edu	37	4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	736					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			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)				TTTTGCAACACAGGATGGATC	0.428																																						ENST00000205214.6	1.000000	0.620000	1	7.200000e-01	0.850000	0.852969	0.850000	1.000000																										0				40						c.(2206-2208)tGt>tCt		aminoadipate-semialdehyde dehydrogenase							107.0	107.0	107.0					4																	57215710		2203	4300	6503	SO:0001583	missense	132949	0	0					g.chr4:57215710C>G	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.2207G>C	chr4.hg19:g.57215710C>G	ENSP00000205214:p.Cys736Ser	0					AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S	p.C736S	NM_181806.2	NP_861522.2	1	2	3	1.998139	Q4L235	ACSF4_HUMAN		11	2387	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	1	1	hg19	c.2207G>C	CCDS3504.1	1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821413	0.02755	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61742	0.08;0.22;2.4;0.66;0.67	4.91	2.05	0.26809	4.91	2.05	0.26809	.	0.754197	0.12944	N	0.426341	T	0.44201	0.1282	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.20261	0.043;0.003;0.006;0.001	B;B;B;B	0.17722	0.019;0.004;0.009;0.001	T	0.26849	-1.0091	10	0.18276	T	0.48	-3.9224	5.9473	0.19225	0.116:0.5845:0.2189:0.0806	.	583;736;736;736	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	736;636;251;736;583;736	ENSP00000205214:C736S;ENSP00000423760:C636S;ENSP00000392158:C251S;ENSP00000409656:C736S;ENSP00000421171:C736S	ENSP00000205214:C736S	C	-	2	0	0	AASDH	56910467	56910467	0.000000	0.05858	0.068000	0.19968	0.035000	0.12851	-0.454000	0.06770	0.637000	0.30526	-0.284000	0.09977	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-10.262060	1	0.170000	NM_181806			43	43		561	551	0		1	0		0	0	112	0		1	6.072258e-01	0	0	0	28	0	43	561
AASDH	132949	broad.mit.edu	37	4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000205214.6	-	4	742	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	188					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			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)				CAATGCTTTAGCCTCAGATCC	0.368																																						ENST00000205214.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(562-564)Cta>Ata		aminoadipate-semialdehyde dehydrogenase							203.0	169.0	181.0					4																	57244420		2203	4300	6503	SO:0001583	missense	132949	0	0					g.chr4:57244420G>T	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.562C>A	chr4.hg19:g.57244420G>T	ENSP00000205214:p.Leu188Ile	0					AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I	p.L188I	NM_181806.2	NP_861522.2	1	2	3	1.998139	Q4L235	ACSF4_HUMAN		4	742	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	1	1	hg19	c.562C>A	CCDS3504.1	1	.	.	.	.	.	.	.	.	.	.	G	9.060	0.994318	0.19043	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;1.01;2.85;0.78	5.95	1.76	0.24704	5.95	1.76	0.24704	AMP-dependent synthetase/ligase (1);	2.018060	0.02117	N	0.055319	T	0.47414	0.1444	L	0.52011	1.625	0.09310	N	1	B;P;B;B	0.36125	0.279;0.538;0.396;0.45	B;B;B;B	0.35859	0.053;0.178;0.192;0.212	T	0.46610	-0.9179	10	0.37606	T	0.19	2.3294	12.1516	0.54053	0.0746:0.5225:0.4029:0.0	.	35;188;188;188	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	188;88;188;35;188	ENSP00000205214:L188I;ENSP00000423760:L88I;ENSP00000409656:L188I;ENSP00000421171:L188I	ENSP00000205214:L188I	L	-	1	2	2	AASDH	56939177	56939177	0.001000	0.12720	0.050000	0.19076	0.453000	0.32348	0.815000	0.27253	0.827000	0.34685	-0.175000	0.13238	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_181806			111	108		437	422	1		1	1		0	0	76	0		1	9.669660e-01	0	7	0	17	0	111	437
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					'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)			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)	AGGCGTAGCAGATTCTGGAAC	0.458																																						ENST00000264220.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(979-981)tCt>tTt		phosphoribosyl pyrophosphate amidotransferase	Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)						146.0	142.0	143.0					4																	57266984		2203	4300	6503	SO:0001583	missense	5471	0	0					g.chr4:57266984G>A		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.980C>T	chr4.hg19:g.57266984G>A	ENSP00000264220:p.Ser327Phe	0					PPAT_ENST00000507648.1_5'Flank	p.S327F	NM_002703.4	NP_002694.3	1	2	3	1.998139	Q06203	PUR1_HUMAN		8	1117	-	Glioma(25;0.08)|all_neural(26;0.101)			Missense_Mutation	SNP	ENST00000264220.2	1	1	hg19	c.980C>T	CCDS3505.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.069123	0.93950	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98646	4.29	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97111	0.9804	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	F	327	ENSP00000264220:S327F	ENSP00000264220:S327F	S	-	2	0	0	PPAT	56961741	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_002703			144	144		603	596	1		1	1		0	0	146	0		1	9.992209e-01	0	18	0	28	0	144	603
PPAT	5471	broad.mit.edu	37	4	57269561	57269561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	ENST00000264220.2	-	4	546	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	137	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)			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)	ATACCATGACGCAGAAGCTAT	0.448																																						ENST00000264220.2	1.000000	0.730000	1	9.000000e-01	0.990000	0.965118	0.990000	1.000000																										0				20						c.(409-411)Cgt>Tgt		phosphoribosyl pyrophosphate amidotransferase	Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)						53.0	52.0	53.0					4																	57269561		2203	4300	6503	SO:0001583	missense	5471	0	0					g.chr4:57269561G>A		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.409C>T	chr4.hg19:g.57269561G>A	ENSP00000264220:p.Arg137Cys	0					PPAT_ENST00000507648.1_5'UTR	p.R137C	NM_002703.4	NP_002694.3	1	2	3	1.998139	Q06203	PUR1_HUMAN		4	546	-	Glioma(25;0.08)|all_neural(26;0.101)			Missense_Mutation	SNP	ENST00000264220.2	0	1	hg19	c.409C>T	CCDS3505.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659912	0.67586	.	.	ENSG00000128059	ENST00000264220	T	0.77098	-1.07	5.51	5.51	0.81932	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	D	0.88575	0.3132	10	0.62326	D	0.03	-13.6926	19.4001	0.94625	0.0:0.0:1.0:0.0	.	137	Q06203	PUR1_HUMAN	C	137	ENSP00000264220:R137C	ENSP00000264220:R137C	R	-	1	0	0	PPAT	56964318	56964318	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.360000	0.59455	2.593000	0.87608	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_002703			24	24		235	226	0		1	1		0	0	37	0		9.999996e-01	9.455828e-01	0	12	0	38	0	24	235
PAICS	10606	broad.mit.edu	37	4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000512576.1	+	9	1275	c.1114C>A	c.(1114-1116)Ctt>Att	p.L372I	PAICS_ENST00000264221.2_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000514888.1_Missense_Mutation_p.L280I	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	372	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)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403																																					GBM(53;429 1144 8755 40726)	ENST00000512576.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999329	0.990000	1.000000																										0				5						c.(1114-1116)Ctt>Att		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						74.0	64.0	67.0					4																	57325540		1858	4096	5954	SO:0001583	missense	10606	0	0					g.chr4:57325540C>A	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.1114C>A	chr4.hg19:g.57325540C>A	ENSP00000421096:p.Leu372Ile	0					PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000514888.1_Missense_Mutation_p.L280I|PAICS_ENST00000264221.2_Missense_Mutation_p.L372I	p.L372I	NM_001079524.1	NP_001072992.1	1	2	3	1.998139	P22234	PUR6_HUMAN		9	1275	+	Glioma(25;0.08)|all_neural(26;0.101)		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	1	1	hg19	c.1114C>A	CCDS47061.1	1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742328	0.49151	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.38401	1.15;1.15;1.14;1.15;1.15	5.05	2.22	0.28083	5.05	2.22	0.28083	Phosphoribosylaminoimidazole carboxylase, core (4);	0.194207	0.46145	N	0.000319	T	0.25606	0.0623	N	0.17838	0.53	0.51482	D	0.999922	B;B;B	0.26445	0.149;0.002;0.149	B;B;B	0.33960	0.173;0.009;0.173	T	0.05257	-1.0896	10	0.38643	T	0.18	-5.3966	10.9869	0.47526	0.1347:0.5904:0.2749:0.0	.	372;379;372	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	I	280;372;372;379;372	ENSP00000424907:L280I;ENSP00000264221:L372I;ENSP00000424053:L372I;ENSP00000382595:L379I;ENSP00000421096:L372I	ENSP00000264221:L372I	L	+	1	0	0	PAICS	57020297	57020297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.515000	0.53429	0.191000	0.20236	0.585000	0.79938	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	1	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_006452			19	19		107	107	1		1	1		0	0	31	0		9.999946e-01	1	0	87	0	262	0	19	107
PAICS	10606	broad.mit.edu	37	4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000512576.1	+	9	1291	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	PAICS_ENST00000264221.2_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000514888.1_Missense_Mutation_p.V285A	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	377	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)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383																																					GBM(53;429 1144 8755 40726)	ENST00000512576.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998514	0.990000	1.000000																										0				5						c.(1129-1131)gTa>gCa		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						71.0	64.0	66.0					4																	57325556		1871	4110	5981	SO:0001583	missense	10606	0	0					g.chr4:57325556T>C	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.1130T>C	chr4.hg19:g.57325556T>C	ENSP00000421096:p.Val377Ala	0					PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000514888.1_Missense_Mutation_p.V285A|PAICS_ENST00000264221.2_Missense_Mutation_p.V377A	p.V377A	NM_001079524.1	NP_001072992.1	1	2	3	1.998139	P22234	PUR6_HUMAN		9	1291	+	Glioma(25;0.08)|all_neural(26;0.101)		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	1	1	hg19	c.1130T>C	CCDS47061.1	1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515929	0.44763	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.55413	0.52;0.55;0.56;0.53;0.55	5.05	5.05	0.67936	5.05	5.05	0.67936	Phosphoribosylaminoimidazole carboxylase, core (4);	0.319515	0.37304	N	0.002152	T	0.53932	0.1827	M	0.77313	2.365	0.29385	N	0.863062	B;B;B	0.17038	0.02;0.009;0.02	B;B;B	0.27380	0.079;0.025;0.079	T	0.53795	-0.8388	10	0.36615	T	0.2	-11.3974	9.9633	0.41710	0.0:0.0867:0.0:0.9133	.	377;384;377	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	A	285;377;377;384;377	ENSP00000424907:V285A;ENSP00000264221:V377A;ENSP00000424053:V377A;ENSP00000382595:V384A;ENSP00000421096:V377A	ENSP00000264221:V377A	V	+	2	0	0	PAICS	57020313	57020313	0.966000	0.33281	0.990000	0.47175	0.988000	0.76386	5.608000	0.67654	2.036000	0.60181	0.477000	0.44152	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_006452			18	18		109	109	1		1	1		0	0	32	0		9.999888e-01	1	0	103	0	192	0	18	109
SRP72	6731	broad.mit.edu	37	4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	605					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)			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)					GACCCAGGGAGCAACTGCAGG	0.453																																						ENST00000342756.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1813-1815)Gca>Tca		signal recognition particle 72kDa							44.0	44.0	44.0					4																	57366836		2203	4300	6503	SO:0001583	missense	6731	0	0					g.chr4:57366836G>T	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.1813G>T	chr4.hg19:g.57366836G>T	ENSP00000342181:p.Ala605Ser	0					SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	p.A605S	NM_006947.3	NP_008878.3	1	2	3	1.998139	O76094	SRP72_HUMAN		18	2534	+	Glioma(25;0.08)|all_neural(26;0.101)		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	1	1	hg19	c.1813G>T	CCDS3506.1	1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234601	0.22626	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.78246	-1.16;-1.14	5.94	4.99	0.66335	5.94	4.99	0.66335	.	0.231906	0.43919	D	0.000502	T	0.60612	0.2282	N	0.19112	0.55	0.43091	D	0.994761	B;B	0.21821	0.061;0.008	B;B	0.16289	0.015;0.003	T	0.55717	-0.8097	10	0.23302	T	0.38	.	9.6069	0.39639	0.1236:0.0:0.8764:0.0	.	544;605	G5E9Z8;O76094	.;SRP72_HUMAN	S	605;550;544	ENSP00000342181:A605S;ENSP00000424576:A544S	ENSP00000342181:A605S	A	+	1	0	0	SRP72	57061593	57061593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.681000	0.46926	2.807000	0.96579	0.591000	0.81541	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000				43	43		176	176	1		1	1		0	0	56	0		1	1	0	150	0	340	0	43	176
REST	5978	broad.mit.edu	37	4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	6					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)			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)					ACCCAGGTAATGGGGCAGTCT	0.448																																						ENST00000309042.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(16-18)aTg>aCg		RE1-silencing transcription factor							58.0	49.0	52.0					4																	57776821		2203	4300	6503	SO:0001583	missense	5978	0	0					g.chr4:57776821T>C	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.17T>C	chr4.hg19:g.57776821T>C	ENSP00000311816:p.Met6Thr	0						p.M6T	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		2	331	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.17T>C	CCDS3509.1	1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867927	0.72065	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09255	3.0	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.160766	0.44688	D	0.000440	T	0.10937	0.0267	L	0.44542	1.39	0.39693	D	0.971072	B;P	0.42827	0.066;0.791	B;B	0.35859	0.068;0.212	T	0.03268	-1.1054	10	0.87932	D	0	-22.3791	14.0692	0.64851	0.0:0.0:0.0:1.0	.	6;6	Q13127-2;Q13127	.;REST_HUMAN	T	6	ENSP00000311816:M6T	ENSP00000311816:M6T	M	+	2	0	0	REST	57471578	57471578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	2.212000	0.71576	0.459000	0.35465	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_005612			42	42		156	151	1		1	1		0	0	42	0		1	8.785717e-01	0	3	0	13	0	42	156
REST	5978	broad.mit.edu	37	4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	113	Interaction with SIN3A.				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)			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)					GGAACTGAGAAGTTTGGAACT	0.433																																						ENST00000309042.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(337-339)Agt>Cgt		RE1-silencing transcription factor							68.0	67.0	68.0					4																	57777141		2203	4300	6503	SO:0001583	missense	5978	0	0					g.chr4:57777141A>C	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.337A>C	chr4.hg19:g.57777141A>C	ENSP00000311816:p.Ser113Arg	0						p.S113R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		2	651	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.337A>C	CCDS3509.1	1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822436	0.32237	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10005	2.92	5.78	0.215	0.15253	5.78	0.215	0.15253	.	0.437967	0.23277	N	0.049948	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	P;D	0.63046	0.944;0.992	P;P	0.59487	0.499;0.858	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.9595	1.5661	0.02605	0.5494:0.1094:0.1623:0.179	.	113;113	Q13127-2;Q13127	.;REST_HUMAN	R	113	ENSP00000311816:S113R	ENSP00000311816:S113R	S	+	1	0	0	REST	57471898	57471898	0.008000	0.16893	0.004000	0.12327	0.060000	0.15804	0.307000	0.19296	0.452000	0.26830	-0.250000	0.11733	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_005612			59	56		325	320	1		1	1		0	0	78	0		1	9.943915e-01	0	4	0	42	0	59	325
REST	5978	broad.mit.edu	37	4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	210					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)			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)					AGAAGAGGGAGATTTCTCCAA	0.493																																						ENST00000309042.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999773	0.990000	1.000000																										0				50						c.(628-630)Gat>Tat		RE1-silencing transcription factor							56.0	55.0	55.0					4																	57777432		2203	4300	6503	SO:0001583	missense	5978	0	0					g.chr4:57777432G>T	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.628G>T	chr4.hg19:g.57777432G>T	ENSP00000311816:p.Asp210Tyr	0					REST_ENST00000514063.1_3'UTR	p.D210Y	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		2	942	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.628G>T	CCDS3509.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832111	0.71258	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10099	2.91	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.162464	0.41097	D	0.000954	T	0.33673	0.0871	M	0.61703	1.905	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.72075	0.956;0.976	T	0.00349	-1.1798	10	0.72032	D	0.01	-26.9232	20.1358	0.98028	0.0:0.0:1.0:0.0	.	210;210	Q13127-2;Q13127	.;REST_HUMAN	Y	210	ENSP00000311816:D210Y	ENSP00000311816:D210Y	D	+	1	0	0	REST	57472189	57472189	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.441000	0.97557	2.865000	0.98341	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_005612			41	41		281	276	1		1	1		0	0	56	0		1	9.797771e-01	0	5	0	40	0	41	281
REST	5978	broad.mit.edu	37	4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	405	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)			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)					GTAATCTACAGTATCACTTCA	0.388																																						ENST00000309042.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1213-1215)caG>caT		RE1-silencing transcription factor							146.0	144.0	145.0					4																	57796239		2203	4300	6503	SO:0001583	missense	5978	0	0					g.chr4:57796239G>T	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.1215G>T	chr4.hg19:g.57796239G>T	ENSP00000311816:p.Gln405His	0						p.Q405H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		4	1529	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.1215G>T	CCDS3509.1	1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547197	0.65311	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.42900	0.96	5.8	1.01	0.19927	5.8	1.01	0.19927	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	L	0.54323	1.7	0.53005	D	0.999968	D;P	0.61697	0.99;0.89	P;B	0.52424	0.698;0.286	T	0.28870	-1.0030	10	0.72032	D	0.01	-13.699	6.4542	0.21920	0.3222:0.114:0.5638:0.0	.	382;405	F8WAN5;Q13127	.;REST_HUMAN	H	405;405;382	ENSP00000311816:Q405H	ENSP00000311816:Q405H	Q	+	3	2	2	REST	57490996	57490996	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	2.740000	0.47418	-0.130000	0.11599	-0.175000	0.13238	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	164		164	163	1	2.060000	-20.000000	1	0.170000	NM_005612			96	96		529	522	1		1	1		0	0	164	0		1	9.864646e-01	0	4	0	35	0	96	529
REST	5978	broad.mit.edu	37	4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	569	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)			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)					AGGAGAATAAAAAGCAAAATA	0.343																																						ENST00000309042.7	1.000000	0.310000	9.500000e-01	4.600000e-01	0.660000	0.682981	0.660000	1.000000																										0				50						c.(1705-1707)aaA>aaC		RE1-silencing transcription factor							18.0	20.0	19.0					4																	57796731		2187	4290	6477	SO:0001583	missense	5978	0	0					g.chr4:57796731A>C	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.1707A>C	chr4.hg19:g.57796731A>C	ENSP00000311816:p.Lys569Asn	0						p.K569N	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		4	2021	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.1707A>C	CCDS3509.1	0	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931575	0.52866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.42513	0.97	5.59	-1.26	0.09376	5.59	-1.26	0.09376	.	0.631179	0.15334	N	0.267877	T	0.56673	0.2001	M	0.71581	2.175	0.47905	D	0.999548	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.843	T	0.58612	-0.7606	10	0.62326	D	0.03	-5.6695	10.1506	0.42791	0.6404:0.0:0.3596:0.0	.	546;569	F8WAN5;Q13127	.;REST_HUMAN	N	569;546	ENSP00000311816:K569N	ENSP00000311816:K569N	K	+	3	2	2	REST	57491488	57491488	0.997000	0.39634	0.279000	0.24732	0.478000	0.33099	0.618000	0.24373	-0.182000	0.10602	-0.366000	0.07423	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-11.977030	1	0.170000	NM_005612			8	8		143	137	0		1	1		0	0	33	0		9.881716e-01	8.458927e-01	0	2	0	61	0	8	143
REST	5978	broad.mit.edu	37	4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	604	Pro-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)			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)					TGTTGAGAAGGGATCTGCTCA	0.498																																						ENST00000309042.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1810-1812)Gga>Aga		RE1-silencing transcription factor							29.0	30.0	30.0					4																	57796834		2190	4285	6475	SO:0001583	missense	5978	1	121320	29				g.chr4:57796834G>A	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.1810G>A	chr4.hg19:g.57796834G>A	ENSP00000311816:p.Gly604Arg	0						p.G604R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		4	2124	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.1810G>A	CCDS3509.1	1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738503	0.15574	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06849	3.25	4.23	4.23	0.50019	4.23	4.23	0.50019	.	1.495820	0.04005	N	0.297113	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	0.999993	B;B	0.12013	0.004;0.005	B;B	0.18263	0.021;0.005	T	0.25984	-1.0116	10	0.37606	T	0.19	1.0E-4	14.3745	0.66865	0.0:0.0:1.0:0.0	.	581;604	F8WAN5;Q13127	.;REST_HUMAN	R	604;581	ENSP00000311816:G604R	ENSP00000311816:G604R	G	+	1	0	0	REST	57491591	57491591	0.024000	0.19004	0.011000	0.14972	0.003000	0.03518	1.939000	0.40213	2.273000	0.75805	0.491000	0.48974	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.291167	1	0.170000	NM_005612			40	40		170	167	1		1	1		0	0	51	0		1	9.907268e-01	0	10	0	24	0	40	170
REST	5978	broad.mit.edu	37	4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	760	Pro-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.M753_P768delMEVVQKEPVKIELSPP(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)					CAGAAGGAACCTGTTAAGATA	0.557																																						ENST00000309042.7	1.000000	0.190000	3.200000e-01	2.200000e-01	0.260000	0.310825	0.260000	0.270000																										1	Deletion - In frame(1)	p.M753_P768delMEVVQKEPVKIELSPP(1)	central_nervous_system(1)	50						c.(2278-2280)cCt>cAt		RE1-silencing transcription factor							255.0	270.0	264.0					4																	57797303		2203	4300	6503	SO:0001583	missense	5978	0	0					g.chr4:57797303C>A	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.2279C>A	chr4.hg19:g.57797303C>A	ENSP00000311816:p.Pro760His	0						p.P760H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	1	2	3	1.998139	Q13127	REST_HUMAN		4	2593	+	Glioma(25;0.08)|all_neural(26;0.181)		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	1	1	hg19	c.2279C>A	CCDS3509.1	0	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442522	0.25987	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08896	3.04	2.6	-0.484	0.12071	2.6	-0.484	0.12071	.	1.788680	0.03034	N	0.152446	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.11155	-1.0599	10	0.27785	T	0.31	0.3888	2.2674	0.04082	0.1999:0.4953:0.1803:0.1245	.	737;760	F8WAN5;Q13127	.;REST_HUMAN	H	760;737	ENSP00000311816:P760H	ENSP00000311816:P760H	P	+	2	0	0	REST	57492060	57492060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.167000	0.10871	-0.479000	0.04858	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	0	0	1		2	2	2	0		0	0	501		501	495	1	2.060000	-2.197096	0	0.170000	NM_005612			48	47		2092	2054	0		1	0		0	0	501	0		1	2.325289e-01	0	1	0	39	0	48	2092
POLR2B	5431	broad.mit.edu	37	4	57876529	57876529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	ENST00000381227.1	+	12	1820	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	469					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)			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)					TTTTCTAGGTGTTAAACCGCC	0.373																																						ENST00000381227.1	1.000000	0.680000	1	7.800000e-01	0.880000	0.887072	0.880000	1.000000																										0				52						c.(1405-1407)gtG>gtA		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							114.0	121.0	119.0					4																	57876529		2203	4300	6503	SO:0001819	synonymous_variant	5431	0	0					g.chr4:57876529G>A		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.1407G>A	chr4.hg19:g.57876529G>A		0					POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000510355.1_3'UTR	p.V469V			1	2	3	1.998139	P30876	RPB2_HUMAN		12	1820	+	Glioma(25;0.08)|all_neural(26;0.181)		A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	1	1	hg19	c.1407G>A	CCDS3511.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	0	0	1		2	2	2	0		0	0	168		168	166	1	2.060000	-13.365730	1	0.170000	NM_000938			62	61		769	755	0		1	1		0	0	168	0		1	9.999999e-01	0	25	0	252	0	62	769
POLR2B	5431	broad.mit.edu	37	4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	798					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)			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)					ATCATGAATCGTTCAGCTGTA	0.353																																						ENST00000381227.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2392-2394)cGt>cAt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127.0	117.0	120.0					4																	57887134		2203	4300	6503	SO:0001583	missense	5431	0	0					g.chr4:57887134G>A		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.2393G>A	chr4.hg19:g.57887134G>A	ENSP00000370625:p.Arg798His	0					POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H	p.R798H			1	2	3	1.998139	P30876	RPB2_HUMAN		18	2806	+	Glioma(25;0.08)|all_neural(26;0.181)		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	1	1	hg19	c.2393G>A	CCDS3511.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.306685	0.95629	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.64	5.64	0.86602	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.108661	0.64402	D	0.000005	T	0.77585	0.4152	L	0.49571	1.57	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.44477	0.451;0.451	T	0.80692	-0.1269	10	0.87932	D	0	.	17.8818	0.88842	0.0:0.0:1.0:0.0	.	723;798	C9J4M6;P30876	.;RPB2_HUMAN	H	798;723;791;798	ENSP00000370625:R798H;ENSP00000391096:R723H;ENSP00000391452:R791H;ENSP00000312735:R798H	ENSP00000312735:R798H	R	+	2	0	0	POLR2B	57581891	57581891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	2.657000	0.90304	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_000938			80	79		353	348	1		1	1		0	0	73	0		1	1	0	57	0	179	0	80	353
LPHN3	23284	broad.mit.edu	37	4	62598530	62598530	+	Silent	SNP	C	C	T	rs187372699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000514591.1	+	7	782	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000512091.2_Silent_p.S151S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000506720.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000506746.1_Silent_p.S219S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	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)			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						TGTTTGAGTCCGACCACCAAT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16931	0.0		0.0	False		,,,				2504	0.0					ENST00000514591.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999774	0.990000	1.000000																										0				125						c.(451-453)tcC>tcT		latrophilin 3		C		0,3744		0,0,1872	36.0	33.0	34.0		453	-11.5	0.1	4		34	1,8201		0,1,4100	no	coding-synonymous	LPHN3	NM_015236.4		0,1,5972	TT,TC,CC		0.0122,0.0,0.0084		151/1470	62598530	1,11945	1872	4101	5973	SO:0001819	synonymous_variant	23284	10	120718	34				g.chr4:62598530C>T	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.453C>T	chr4.hg19:g.62598530C>T		0					LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000512091.2_Silent_p.S151S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000506720.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000504896.1_Silent_p.S151S	p.S151S			1	2	3	1.998139	Q9HAR2	LPHN3_HUMAN		7	782	+			E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	0	1	hg19	c.453C>T	CCDS54768.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				16	16		69	66	0		1			0	0	14	0		9.999505e-01	0	0	0	0	0	0	16	69
LPHN3	23284	broad.mit.edu	37	4	62599163	62599163	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000514591.1	+	7	1415	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000512091.2_Silent_p.Q362Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	362	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)			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						ATTCATACCAGTACATTGCAG	0.393																																						ENST00000514591.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999910	0.990000	1.000000																										0				125						c.(1084-1086)caG>caA		latrophilin 3							104.0	92.0	96.0					4																	62599163		1921	4131	6052	SO:0001819	synonymous_variant	23284	0	0					g.chr4:62599163G>A	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.1086G>A	chr4.hg19:g.62599163G>A		0					LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000512091.2_Silent_p.Q362Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q	p.Q362Q			1	2	3	1.998139	Q9HAR2	LPHN3_HUMAN		7	1415	+			E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	1	1	hg19	c.1086G>A	CCDS54768.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				26	25		140	133	1		1	0		0	0	32	0		9.999999e-01	2.662722e-02	0	0	0	2	0	26	140
EPHA5	2044	broad.mit.edu	37	4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	774	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)			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						AAGCTGAATCACAGTGAACTG	0.423										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(2320-2322)gTg>gCg		EPH receptor A5							103.0	92.0	96.0					4																	66217294		2203	4300	6503	SO:0001583	missense	2044	0	0					g.chr4:66217294A>G	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.2321T>C	chr4.hg19:g.66217294A>G	ENSP00000273854:p.Val774Ala	0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A	p.V774A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	1.998139	P54756	EPHA5_HUMAN		14	2921	-			Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	1	1	hg19	c.2321T>C	CCDS3513.1	1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702208	0.88924	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.74	5.74	0.90152	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000103	T	0.62319	0.2418	N	0.05383	-0.06	0.80722	D	1	P;D;P;D	0.63880	0.91;0.992;0.89;0.993	P;D;P;D	0.69142	0.846;0.962;0.761;0.916	T	0.69435	-0.5146	10	0.49607	T	0.09	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	753;775;752;774	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	774;611;752;775	ENSP00000273854:V774A;ENSP00000389208:V611A;ENSP00000346899:V752A;ENSP00000427638:V775A	ENSP00000273854:V774A	V	-	2	0	0	EPHA5	65899889	65899889	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.497000	0.81536	2.202000	0.70862	0.477000	0.44152	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_004439			50	48		266	264	1		1	0		0	0	69	0		1	2.597962e-02	0	0	0	2	0	50	266
EPHA5	2044	broad.mit.edu	37	4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						TTTGATAATCGTGTAGCTGGT	0.388										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(1546-1548)aCg>aTg		EPH receptor A5							173.0	139.0	151.0					4																	66280142		2203	4300	6503	SO:0001583	missense	2044	0	0					g.chr4:66280142G>A	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.1547C>T	chr4.hg19:g.66280142G>A	ENSP00000273854:p.Thr516Met	0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M	p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	1.998139	P54756	EPHA5_HUMAN		7	2147	-			Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	1	1	hg19	c.1547C>T	CCDS3513.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533607	0.85812	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.17	6.17	0.99709	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.74176	0.3682	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;1.0;0.991	T	0.71556	-0.4557	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516;516	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	516;352;516;516	ENSP00000273854:T516M;ENSP00000389208:T352M;ENSP00000346899:T516M;ENSP00000427638:T516M	ENSP00000273854:T516M	T	-	2	0	0	EPHA5	65962737	65962737	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_004439			69	68		394	386	1		1			0	0	104	0		1	0	0	0	0	0	0	69	394
EPHA5	2044	broad.mit.edu	37	4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	460	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GTTACATTTACAGACACATAC	0.473										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(1378-1380)Gta>Ata		EPH receptor A5							83.0	67.0	72.0					4																	66356119		2203	4300	6503	SO:0001583	missense	2044	0	0					g.chr4:66356119C>T	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.1378G>A	chr4.hg19:g.66356119C>T	ENSP00000273854:p.Val460Ile	0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000432638.2_Intron	p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	1.998139	P54756	EPHA5_HUMAN		5	1978	-			Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	1	1	hg19	c.1378G>A	CCDS3513.1	1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790228	0.50102	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.55234	0.53;0.53;0.53	6.08	6.08	0.98989	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.60090	0.2242	L	0.46157	1.445	0.42608	D	0.993307	B;B;P;B	0.36330	0.413;0.017;0.548;0.129	B;B;P;B	0.46237	0.311;0.027;0.508;0.026	T	0.52381	-0.8583	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	460;460;460;460	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	460	ENSP00000273854:V460I;ENSP00000346899:V460I;ENSP00000427638:V460I	ENSP00000273854:V460I	V	-	1	0	0	EPHA5	66038714	66038714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	2.894000	0.99253	0.591000	0.81541	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.405728	1	0.170000	NM_004439			59	57		252	247	1		1			0	0	69	0		1	0	0	0	0	0	0	59	252
EPHA5	2044	broad.mit.edu	37	4	66356255	66356255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000354839.4_Silent_p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	414	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GCCGGGGAAGGTACCTGACAT	0.493										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(1240-1242)taC>taT		EPH receptor A5							122.0	95.0	104.0					4																	66356255		2203	4300	6503	SO:0001819	synonymous_variant	2044	0	0					g.chr4:66356255G>A	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.1242C>T	chr4.hg19:g.66356255G>A		0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron	p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	1.998139	P54756	EPHA5_HUMAN		5	1842	-			Q7Z3F2	Silent	SNP	ENST00000273854.3	1	1	hg19	c.1242C>T	CCDS3513.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_004439			54	52		270	261	1		1	0		0	0	74	0		1	0	0	0	0	1	0	54	270
EPHA5	2044	broad.mit.edu	37	4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	334	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)			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						ACACAAGAGGTTGAAGCTTCC	0.478										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				142						c.(1000-1002)Acc>Tcc		EPH receptor A5							167.0	163.0	164.0					4																	66361172		2203	4300	6503	SO:0001583	missense	2044	0	0					g.chr4:66361172T>A	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.1000A>T	chr4.hg19:g.66361172T>A	ENSP00000273854:p.Thr334Ser	0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron	p.T334S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	1.998139	P54756	EPHA5_HUMAN		4	1600	-			Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	1	1	hg19	c.1000A>T	CCDS3513.1	1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018682	0.35606	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97378	1.64;1.64;-4.36	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.95095	0.8411	L	0.33668	1.02	0.29807	N	0.831938	B;B;P;B	0.35507	0.373;0.024;0.506;0.021	B;B;B;B	0.43123	0.232;0.016;0.409;0.012	D	0.90807	0.4698	10	0.15066	T	0.55	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	334;334;334;334	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	334	ENSP00000273854:T334S;ENSP00000346899:T334S;ENSP00000427638:T334S	ENSP00000273854:T334S	T	-	1	0	0	EPHA5	66043767	66043767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.137000	0.50562	2.235000	0.73313	0.377000	0.23210	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	1		16	2	2	1		1	1	151		151	148	1	2.060000	-20.000000	1	0.170000	NM_004439			122	120		556	547	1		1			1	0	151	0		1	0	0	0	0	0	0	122	556
UBA6	55236	broad.mit.edu	37	4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A	rs375871246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373																																						ENST00000322244.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2653-2655)Cgc>Tgc		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	126.0	115.0	118.0		2653	5.5	1.0	4		118	1,8597	1.2+/-3.3	0,1,4298	no	missense	UBA6	NM_018227.5	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	885/1053	68490771	1,13003	2203	4299	6502	SO:0001583	missense	55236	2	121410	37				g.chr4:68490771G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2653C>T	chr4.hg19:g.68490771G>A	ENSP00000313454:p.Arg885Cys	0						p.R885C	NM_018227.5	NP_060697.4	1	2	3	1.998139	A0AVT1	UBA6_HUMAN		29	2712	-			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	1	1	hg19	c.2653C>T	CCDS3516.1	1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787040	0.70337	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.46451	0.87	5.52	5.52	0.82312	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.69924	-0.5013	10	0.62326	D	0.03	-13.1519	17.6191	0.88076	0.0:0.0:1.0:0.0	.	885	A0AVT1	UBA6_HUMAN	C	885	ENSP00000313454:R885C	ENSP00000313454:R885C	R	-	1	0	0	UBA6	68173366	68173366	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	5.588000	0.67517	2.566000	0.86566	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_018227			71	70		264	261	1		1	1		0	0	58	0		1	9.998168e-01	0	16	0	34	0	71	264
UBA6	55236	broad.mit.edu	37	4	68501275	68501275	+	Splice_Site	SNP	G	G	A	rs375294484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	580					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCTAAGCAACGACTATTTGAA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17202	0.0		0.0	False		,,,				2504	0.0					ENST00000322244.5	1.000000	0.230000	6.300000e-01	3.300000e-01	0.450000	0.491380	0.450000	0.430000																										0				44						c.(1738-1740)Cgt>Tgt		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	85.0	79.0	81.0		1738	5.1	1.0	4		81	1,8599		0,1,4299	no	missense-near-splice	UBA6	NM_018227.5	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	580/1053	68501275	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55236	6	121410	38				g.chr4:68501275G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1737-1C>T	chr4.hg19:g.68501275G>A		0						p.R580C	NM_018227.5	NP_060697.4	1	2	3	1.998139	A0AVT1	UBA6_HUMAN		20	1797	-			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Splice_Site	SNP	ENST00000322244.5	0	1	hg19	c.1738C>T	CCDS3516.1	0	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558085	0.86231	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.44881	0.91	5.11	5.11	0.69529	5.11	5.11	0.69529	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.058855	0.64402	D	0.000002	T	0.65407	0.2688	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68864	-0.5296	10	0.66056	D	0.02	-19.9923	18.538	0.91018	0.0:0.0:1.0:0.0	.	580	A0AVT1	UBA6_HUMAN	C	580	ENSP00000313454:R580C	ENSP00000313454:R580C	R	-	1	0	0	UBA6	68183870	68183870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.194000	0.94962	2.379000	0.81126	0.460000	0.39030	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.415662	1	0.170000	NM_018227	Missense_Mutation		11	11		290	286	0		1	1		0	0	37	0		9.982920e-01	8.193804e-01	0	3	0	82	0	11	290
GNRHR	2798	broad.mit.edu	37	4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	186					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358																																						ENST00000226413.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(556-558)aGc>aAc		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)						150.0	145.0	146.0					4																	68610471		2203	4300	6503	SO:0001583	missense	2798	0	0					g.chr4:68610471C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.557G>A	chr4.hg19:g.68610471C>T	ENSP00000226413:p.Ser186Asn	0					SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	p.S186N	NM_000406.2	NP_000397.1	1	2	3	1.998139	P30968	GNRHR_HUMAN		2	581	-			O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	1	1	hg19	c.557G>A	CCDS3517.1	1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020455	0.19433	.	.	ENSG00000109163	ENST00000226413	T	0.37752	1.18	5.29	1.05	0.20165	5.29	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.648819	0.14767	N	0.299611	T	0.18509	0.0444	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.20519	T	0.43	1.8215	5.0319	0.14413	0.3642:0.4621:0.0:0.1736	.	186	P30968	GNRHR_HUMAN	N	186	ENSP00000226413:S186N	ENSP00000226413:S186N	S	-	2	0	0	GNRHR	68293066	68293066	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.042000	0.12063	0.234000	0.21139	0.643000	0.83706	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				102	99		498	495	1		1			0	0	110	0		1	0	0	0	0	0	0	102	498
TMPRSS11D	9407	broad.mit.edu	37	4	68688070	68688070	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	414	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)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463																																						ENST00000283916.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1240-1242)caA>caG		transmembrane protease, serine 11D							186.0	171.0	176.0					4																	68688070		2203	4300	6503	SO:0001819	synonymous_variant	9407	0	0					g.chr4:68688070T>C	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.1242A>G	chr4.hg19:g.68688070T>C		0					TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q|UBA6-AS1_ENST00000500538.2_RNA	p.Q414Q	NM_004262.2	NP_004253.1	1	2	3	1.998139	O60235	TM11D_HUMAN		10	1340	-			Q08AF6	Silent	SNP	ENST00000283916.6	1	1	hg19	c.1242A>G	CCDS3518.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_004262			147	142		666	651	0		1			0	0	140	0		1	0	0	0	0	0	0	147	666
TMPRSS11D	9407	broad.mit.edu	37	4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	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	19					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)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388																																						ENST00000283916.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				23						c.(55-57)gTa>gCa		transmembrane protease, serine 11D							105.0	95.0	98.0					4																	68725349		2203	4300	6503	SO:0001583	missense	9407	0	0					g.chr4:68725349A>G	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.56T>C	chr4.hg19:g.68725349A>G	ENSP00000283916:p.Val19Ala	0					TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	p.V19A	NM_004262.2	NP_004253.1	1	2	3	1.998139	O60235	TM11D_HUMAN		2	154	-			Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	1	1	hg19	c.56T>C	CCDS3518.1	1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713069	0.48517	.	.	ENSG00000153802	ENST00000283916	D	0.89050	-2.46	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.542419	0.16615	N	0.206730	D	0.86703	0.5996	M	0.63843	1.955	0.42236	D	0.991915	P	0.46784	0.884	B	0.41466	0.358	D	0.85068	0.0938	10	0.31617	T	0.26	.	11.3687	0.49687	1.0:0.0:0.0:0.0	.	19	O60235	TM11D_HUMAN	A	19	ENSP00000283916:V19A	ENSP00000283916:V19A	V	-	2	0	0	TMPRSS11D	68407944	68407944	0.038000	0.19896	0.005000	0.12908	0.070000	0.16714	4.007000	0.57093	2.184000	0.69523	0.460000	0.39030	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_004262			39	38		204	202	1		1			0	0	46	0		1	0	0	0	0	0	0	39	204
YTHDC1	91746	broad.mit.edu	37	4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	565	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						ATCGTGGATCCTTTAAATACC	0.323																																						ENST00000344157.4	1.000000	0.610000	1	7.400000e-01	0.900000	0.881898	0.900000	1.000000																										0				30						c.(1693-1695)aaG>aaT		YTH domain containing 1							70.0	72.0	71.0					4																	69184570		2203	4300	6503	SO:0001583	missense	91746	0	0					g.chr4:69184570C>A	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.1695G>T	chr4.hg19:g.69184570C>A	ENSP00000339245:p.Lys565Asn	0					YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N	p.K565N	NM_001031732.2	NP_001026902.1	1	2	3	1.998139	Q96MU7	YTDC1_HUMAN		13	2030	-			Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	1	1	hg19	c.1695G>T	CCDS33992.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229728	0.58777	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.158661	0.64402	D	0.000016	T	0.27967	0.0689	N	0.19112	0.55	0.58432	D	0.999995	D;P	0.54964	0.969;0.895	P;P	0.50192	0.634;0.452	T	0.01397	-1.1365	10	0.36615	T	0.2	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	547;565	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	565;547	ENSP00000339245:K565N;ENSP00000347888:K547N	ENSP00000339245:K565N	K	-	3	2	2	YTHDC1	68867165	68867165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.396000	0.59684	2.662000	0.90505	0.655000	0.94253	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.920853	1	0.170000	NM_133370			28	28		345	341	0		1	1		0	0	64	0		1	9.999508e-01	0	6	0	185	0	28	345
YTHDC1	91746	broad.mit.edu	37	4	69197819	69197819	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000355665.3_Splice_Site|YTHDC1_ENST00000579690.1_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1						mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						TGATGCTAATACCTTCGCTTT	0.313																																						ENST00000344157.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.e7+1		YTH domain containing 1							105.0	98.0	100.0					4																	69197819		2203	4300	6503	SO:0001630	splice_region_variant	91746	0	0					g.chr4:69197819A>G	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.1122+1T>C	chr4.hg19:g.69197819A>G		0					YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site		NM_001031732.2	NP_001026902.1	1	2	3	1.998139	Q96MU7	YTDC1_HUMAN		7	1458	-			Q4W5Q3|Q7Z622|Q8TF35	Splice_Site	SNP	ENST00000344157.4	1	1	hg19		CCDS33992.1	1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167816	0.57476	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3141	0.74059	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	YTHDC1	68880414	68880414	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.588000	0.74076	2.155000	0.67459	0.528000	0.53228	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_133370	Intron		47	44		181	177	1		1	1		0	0	58	0		1	5.854548e-01	0	7	0	2	0	47	181
YTHDC1	91746	broad.mit.edu	37	4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	224	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						tcatccacctcttcatcttct	0.478																																						ENST00000344157.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998779	0.990000	1.000000																										0				30						c.(670-672)Gag>Aag		YTH domain containing 1							101.0	84.0	90.0					4																	69202958		2203	4300	6503	SO:0001583	missense	91746	0	0					g.chr4:69202958C>T	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.670G>A	chr4.hg19:g.69202958C>T	ENSP00000339245:p.Glu224Lys	0					YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	p.E224K	NM_001031732.2	NP_001026902.1	1	2	3	1.998139	Q96MU7	YTDC1_HUMAN		4	1005	-			Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	1	1	hg19	c.670G>A	CCDS33992.1	1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358313	0.61403	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.65;1.63	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.191891	0.43747	D	0.000523	T	0.18841	0.0452	N	0.14661	0.345	0.52099	D	0.999948	P;P	0.40476	0.718;0.596	B;B	0.35353	0.201;0.099	T	0.05767	-1.0865	10	0.13853	T	0.58	.	18.894	0.92416	0.0:1.0:0.0:0.0	.	224;224	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	K	224	ENSP00000339245:E224K;ENSP00000347888:E224K	ENSP00000339245:E224K	E	-	1	0	0	YTHDC1	68885553	68885553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.747000	0.74872	2.568000	0.86640	0.460000	0.39030	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-11.640390	1	0.170000	NM_133370			19	19		115	105	1		1	1		0	0	22	0		9.999880e-01	9.999455e-01	0	44	0	61	0	19	115
YTHDC1	91746	broad.mit.edu	37	4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	168					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						CCTTAGAAGACTGGCTGGATC	0.448																																						ENST00000344157.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(502-504)caG>caT		YTH domain containing 1							92.0	84.0	86.0					4																	69203124		2203	4300	6503	SO:0001583	missense	91746	0	0					g.chr4:69203124C>A	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.504G>T	chr4.hg19:g.69203124C>A	ENSP00000339245:p.Gln168His	0					YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	p.Q168H	NM_001031732.2	NP_001026902.1	1	2	3	1.998139	Q96MU7	YTDC1_HUMAN		4	839	-			Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	1	1	hg19	c.504G>T	CCDS33992.1	1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974390	0.18736	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.31247	1.98;1.5	5.55	-0.464	0.12160	5.55	-0.464	0.12160	.	0.373282	0.30556	N	0.009378	T	0.07234	0.0183	N	0.01874	-0.695	0.26789	N	0.969434	B;B	0.14438	0.01;0.0	B;B	0.12837	0.008;0.0	T	0.18681	-1.0329	10	0.13108	T	0.6	.	0.0924	0.00041	0.2468:0.2578:0.1973:0.2981	.	168;168	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	168	ENSP00000339245:Q168H;ENSP00000347888:Q168H	ENSP00000339245:Q168H	Q	-	3	2	2	YTHDC1	68885719	68885719	0.346000	0.24844	1.000000	0.80357	0.992000	0.81027	-0.417000	0.07088	0.137000	0.18759	0.460000	0.39030	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	0		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_133370			86	85		376	370	1		1	1		0	0	90	0		1	1	0	41	0	92	0	86	376
TMPRSS11E	28983	broad.mit.edu	37	4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418																																						ENST00000305363.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(40-42)gTt>gGt		transmembrane protease, serine 11E							368.0	369.0	368.0					4																	69327568		2203	4296	6499	SO:0001583	missense	28983	0	0					g.chr4:69327568T>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.41T>G	chr4.hg19:g.69327568T>G	ENSP00000307519:p.Val14Gly	0						p.V14G	NM_014058.3	NP_054777.2	1	2	3	1.998139	Q9UL52	TM11E_HUMAN		2	105	+			A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	1	1	hg19	c.41T>G	CCDS33993.1	1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135857	0.09032	.	.	ENSG00000087128	ENST00000305363	D	0.88431	-2.38	6.03	-3.21	0.05140	6.03	-3.21	0.05140	.	1.765520	0.03708	N	0.249810	T	0.72946	0.3524	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.60151	-0.7319	10	0.23302	T	0.38	.	1.6525	0.02775	0.116:0.3202:0.2232:0.3406	.	14	Q9UL52	TM11E_HUMAN	G	14	ENSP00000307519:V14G	ENSP00000307519:V14G	V	+	2	0	0	TMPRSS11E	69010163	69010163	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.299000	0.02754	-0.480000	0.06803	0.455000	0.32223	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	0	0	1		2	2	2	0		0	0	306		306	306	1	2.060000	-20.000000	1	0.170000	NM_014058			311	305		1356	1324	1		1	0		0	0	306	0		1	0	0	0	0	1	0	311	1356
TMPRSS11E	28983	broad.mit.edu	37	4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L336F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353																																						ENST00000305363.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L336F(1)	skin(1)	24						c.(1006-1008)Ctc>Ttc		transmembrane protease, serine 11E							161.0	154.0	157.0					4																	69344605		2203	4300	6503	SO:0001583	missense	28983	0	0					g.chr4:69344605C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1006C>T	chr4.hg19:g.69344605C>T	ENSP00000307519:p.Leu336Phe	0						p.L336F	NM_014058.3	NP_054777.2	1	2	3	1.998139	Q9UL52	TM11E_HUMAN		9	1070	+			A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	1	1	hg19	c.1006C>T	CCDS33993.1	1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689438	0.14973	.	.	ENSG00000087128	ENST00000305363	D	0.90004	-2.6	5.31	0.312	0.15837	5.31	0.312	0.15837	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.200210	0.06213	N	0.685374	D	0.87116	0.6097	M	0.76838	2.35	0.09310	N	0.999998	B	0.17667	0.023	B	0.19148	0.024	T	0.72836	-0.4172	10	0.56958	D	0.05	.	3.2715	0.06883	0.2626:0.3631:0.0:0.3743	.	336	Q9UL52	TM11E_HUMAN	F	336	ENSP00000307519:L336F	ENSP00000307519:L336F	L	+	1	0	0	TMPRSS11E	69027200	69027200	0.000000	0.05858	0.093000	0.20910	0.342000	0.28953	-0.337000	0.07852	0.316000	0.23135	0.655000	0.94253	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-20.000000	1	0.170000	NM_014058			131	127		637	616	1		1	0		0	0	186	0		1	7.845003e-02	0	0	0	3	0	131	637
UGT2B15	7366	broad.mit.edu	37	4	69519975	69519975	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	ENST00000338206.5	-	5	1103		c.e5-1			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15						cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TTGGGATGACCTAAAAGTGGA	0.378																																						ENST00000338206.5	1.000000	0.280000	5.500000e-01	3.500000e-01	0.430000	0.474312	0.430000	0.430000																										0										c.e5-1		UDP glucuronosyltransferase 2 family, polypeptide B15	Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)						88.0	91.0	90.0					4																	69519975		2203	4295	6498	SO:0001630	splice_region_variant	7366	1	121406	31				g.chr4:69519975C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1094-1G>A	chr4.hg19:g.69519975C>T		0							NM_001076.3	NP_001067.2	1	2	3	1.998139	P54855	UDB15_HUMAN		5	1103	-			A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Splice_Site	SNP	ENST00000338206.5	0	1	hg19		CCDS3524.1	0	.	.	.	.	.	.	.	.	.	.	.	6.810	0.518474	0.13005	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.57	1.7	0.24286	2.57	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2985	0.26408	0.0:0.8554:0.0:0.1446	.	.	.	.	.	-1	.	.	.	-	.	.	.	UGT2B15	69202570	69202570	1.000000	0.71417	0.935000	0.37517	0.127000	0.20565	3.361000	0.52306	0.398000	0.25338	0.455000	0.32223	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	0	0	1		2	2	2	0		0	0	131		131	136	1	2.060000	-2.927097	1	0.170000	NM_001076	Intron		23	21		611	572	0		1			0	0	131	0		9.999986e-01	0	0	0	0	0	0	23	611
UGT2B10	7365	broad.mit.edu	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(478-480)gCt>gTt		UDP glucuronosyltransferase 2 family, polypeptide B10							139.0	135.0	137.0					4																	69682216		2202	4297	6499	SO:0001583	missense	7365	0	0					g.chr4:69682216C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	chr4.hg19:g.69682216C>T	ENSP00000265403:p.Ala160Val	0					UGT2B10_ENST00000458688.2_Intron	p.A160V	NM_001075.4	NP_001066.1	1	2	3	1.998139	P36537	UDB10_HUMAN		1	506	+			A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	1	1	hg19	c.479C>T		1	.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	0	UGT2B10	69716805	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	0	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-20.000000	1	0.170000	NM_001075			109	106		564	542	1		1			0	0	148	0		1	0	0	0	0	0	0	109	564
UGT2A3	79799	broad.mit.edu	37	4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T	rs578203341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	390					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			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						TATGGGAACTCCCACCATAGG	0.403																																						ENST00000251566.4	1.000000	0.650000	1	7.700000e-01	0.920000	0.901833	0.920000	1.000000																										0				36						c.(1168-1170)gGa>gAa		UDP glucuronosyltransferase 2 family, polypeptide A3							78.0	80.0	79.0					4																	69796399		2203	4299	6502	SO:0001583	missense	79799	0	0					g.chr4:69796399C>T		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.1169G>A	chr4.hg19:g.69796399C>T	ENSP00000251566:p.Gly390Glu	0					UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	p.G390E	NM_024743.3	NP_079019.3	1	2	3	1.998139	Q6UWM9	UD2A3_HUMAN		5	1199	-			Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	1	1	hg19	c.1169G>A	CCDS3525.1	1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533671	0.27387	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63580	-0.05;3.15	1.99	1.99	0.26369	1.99	1.99	0.26369	.	0.060660	0.64402	D	0.000004	D	0.82403	0.5029	H	0.97291	3.975	0.35821	D	0.824608	D	0.89917	1.0	D	0.97110	1.0	D	0.83940	0.0311	10	0.54805	T	0.06	.	5.7269	0.18018	0.318:0.6819:0.0:0.0	.	390	Q6UWM9	UD2A3_HUMAN	E	390;101	ENSP00000251566:G390E;ENSP00000440115:G101E	ENSP00000251566:G390E	G	-	2	0	0	UGT2A3	69830988	69830988	0.959000	0.32827	0.429000	0.26710	0.147000	0.21601	2.751000	0.47508	1.094000	0.41399	0.491000	0.48974	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-3.142702	1	0.170000	NM_024743			35	35		418	414	0		1	0		0	0	104	0		1	5.473685e-01	0	1	0	22	0	35	418
UGT2B4	7363	broad.mit.edu	37	4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	195					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATAACAACAGGCACATAGGAA	0.388																																						ENST00000305107.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				47						c.(583-585)Cct>Tct		UDP glucuronosyltransferase 2 family, polypeptide B4	Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)						74.0	72.0	73.0					4																	70360997		2191	4298	6489	SO:0001583	missense	7363	0	0					g.chr4:70360997G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.583C>T	chr4.hg19:g.70360997G>A	ENSP00000305221:p.Pro195Ser	0					UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	p.P195S	NM_021139.2	NP_066962.2	1	2	3	1.998139	P06133	UD2B4_HUMAN		1	629	-			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	1	1	hg19	c.583C>T	CCDS43234.1	1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209295	0.58343	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62941	-0.01;-0.01;2.95	2.4	2.4	0.29515	2.4	2.4	0.29515	.	0.000000	0.64402	U	0.000007	D	0.83166	0.5195	H	0.96269	3.795	0.35731	D	0.817919	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.994;0.987;1.0	D	0.89039	0.3447	10	0.87932	D	0	.	10.537	0.45009	0.0:0.0:1.0:0.0	.	59;195;195	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	S	195;195;59	ENSP00000421290:P195S;ENSP00000305221:P195S;ENSP00000370486:P59S	ENSP00000305221:P195S	P	-	1	0	0	UGT2B4	70395586	70395586	1.000000	0.71417	0.029000	0.17559	0.018000	0.09664	6.735000	0.74806	1.338000	0.45544	0.298000	0.19748	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000	NM_021139			44	43		272	268	1		1			0	0	67	0		1	0	0	0	0	0	0	44	272
SULT1B1	27284	broad.mit.edu	37	4	70599155	70599155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.3	-	6	870	c.573T>G	c.(571-573)ttT>ttG	p.F191L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	191					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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATAGTACAAAAAAAGTATTG	0.343																																						ENST00000310613.3	1.000000	0.130000	3.200000e-01	1.800000e-01	0.240000	0.288336	0.240000	0.230000																										0				24						c.(571-573)ttT>ttG		sulfotransferase family, cytosolic, 1B, member 1							182.0	199.0	193.0					4																	70599155		2202	4300	6502	SO:0001583	missense	27284	0	0					g.chr4:70599155A>C	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.573T>G	chr4.hg19:g.70599155A>C	ENSP00000308770:p.Phe191Leu	0						p.F191L	NM_014465.3	NP_055280.2	1	2	3	1.998139	O43704	ST1B1_HUMAN		6	870	-			O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	0	1	hg19	c.573T>G	CCDS3530.1	0	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353006	0.61293	.	.	ENSG00000173597	ENST00000310613	D	0.82344	-1.6	4.42	0.613	0.17597	4.42	0.613	0.17597	Sulfotransferase domain (1);	0.436101	0.19435	N	0.114331	D	0.83198	0.5202	M	0.80422	2.495	0.26873	N	0.967719	P	0.49696	0.927	P	0.46796	0.527	T	0.75947	-0.3138	10	0.62326	D	0.03	.	8.0085	0.30340	0.4717:0.0:0.5283:0.0	.	191	O43704	ST1B1_HUMAN	L	191	ENSP00000308770:F191L	ENSP00000308770:F191L	F	-	3	2	2	SULT1B1	70633744	70633744	1.000000	0.71417	0.476000	0.27291	0.794000	0.44872	2.399000	0.44495	0.111000	0.17947	-0.696000	0.03686	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	0	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-11.515350	1	0.170000	NM_014465			15	15		747	739	0		1	0		0	0	144	0		9.998599e-01	9.824795e-02	0	0	0	25	0	15	747
PRR27	401137	broad.mit.edu	37	4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		49	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438																																						ENST00000344526.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(145-147)cCt>cAt									183.0	166.0	171.0					4																	71024115		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr4:71024115C>A																												ENST00000344526.5:c.146C>A	chr4.hg19:g.71024115C>A	ENSP00000343172:p.Pro49His	0					C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	p.P49H	NM_214711.3	NP_999876.2	1	2	3	1.998139	Q6MZM9	PRR27_HUMAN		3	335	+			A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	1	1	hg19	c.146C>A	CCDS3535.1	1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906477	0.33628	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.62639	0.01;0.01	3.24	1.51	0.23008	3.24	1.51	0.23008	.	.	.	.	.	T	0.60064	0.2240	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.46652	-0.9176	9	0.37606	T	0.19	-5.0476	5.5143	0.16898	0.0:0.7401:0.0:0.2598	.	49	Q6MZM9	CD040_HUMAN	H	49	ENSP00000426249:P49H;ENSP00000343172:P49H	ENSP00000343172:P49H	P	+	2	0	0	C4orf40	71058704	71058704	0.009000	0.17119	0.001000	0.08648	0.010000	0.07245	1.449000	0.35123	0.397000	0.25310	-0.192000	0.12808	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-3.319317	1	0.170000				128	126		682	664	1		1			0	0	186	0		1	0	0	0	0	0	0	128	682
PRR27	401137	broad.mit.edu	37	4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		123	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577																																						ENST00000344526.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(367-369)Gca>Aca									101.0	107.0	105.0					4																	71024336		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr4:71024336G>A																												ENST00000344526.5:c.367G>A	chr4.hg19:g.71024336G>A	ENSP00000343172:p.Ala123Thr	0					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	p.A123T	NM_214711.3	NP_999876.2	1	2	3	1.998139	Q6MZM9	PRR27_HUMAN		3	556	+			A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	1	1	hg19	c.367G>A	CCDS3535.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648313	0.29336	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32753	1.44;1.44	4.76	2.04	0.26737	4.76	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.59487	0.858	T	0.08743	-1.0707	9	0.40728	T	0.16	-0.1649	6.191	0.20524	0.3191:0.0:0.6809:0.0	.	123	Q6MZM9	CD040_HUMAN	T	123	ENSP00000426249:A123T;ENSP00000343172:A123T	ENSP00000343172:A123T	A	+	1	0	0	C4orf40	71058925	71058925	0.003000	0.15002	0.000000	0.03702	0.078000	0.17371	0.868000	0.27982	0.548000	0.28955	0.609000	0.83330	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	0		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000				151	151		715	704	1		1			0	0	158	0		1	0	0	0	0	0	0	151	715
PRR27	401137	broad.mit.edu	37	4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		147	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617																																						ENST00000344526.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(439-441)gaG>gaT									30.0	34.0	33.0					4																	71024410		2199	4293	6492	SO:0001583	missense	0	0	0					g.chr4:71024410G>T																												ENST00000344526.5:c.441G>T	chr4.hg19:g.71024410G>T	ENSP00000343172:p.Glu147Asp	0					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	p.E147D	NM_214711.3	NP_999876.2	1	2	3	1.998139	Q6MZM9	PRR27_HUMAN		3	630	+			A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	1	1	hg19	c.441G>T	CCDS3535.1	1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803175	0.16397	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32272	1.46;1.46	4.64	-9.27	0.00659	4.64	-9.27	0.00659	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.22109	T	0.4	0.2678	5.6229	0.17467	0.5778:0.0866:0.2482:0.0874	.	147	Q6MZM9	CD040_HUMAN	D	147	ENSP00000426249:E147D;ENSP00000343172:E147D	ENSP00000343172:E147D	E	+	3	2	2	C4orf40	71058999	71058999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	-2.808000	0.00349	-2.602000	0.00161	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000				87	86		349	341	1		1			0	0	68	0		1	0	0	0	0	0	0	87	349
ODAM	54959	broad.mit.edu	37	4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	167	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373																																						ENST00000396094.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(499-501)cAa>cGa		odontogenic, ameloblast asssociated							110.0	95.0	100.0					4																	71066290		2203	4300	6503	SO:0001583	missense	54959	0	0					g.chr4:71066290A>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.500A>G	chr4.hg19:g.71066290A>G	ENSP00000379401:p.Gln167Arg	0						p.Q167R	NM_017855.3	NP_060325.3	1	2	3	1.998139	A1E959	ODAM_HUMAN		6	548	+			Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	1	1	hg19	c.500A>G	CCDS3536.2	1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308310	0.40895	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50277	0.75;0.75	5.22	1.05	0.20165	5.22	1.05	0.20165	.	0.525126	0.16190	N	0.225453	T	0.33323	0.0859	L	0.50333	1.59	0.09310	N	1	B	0.25390	0.125	B	0.20955	0.032	T	0.19031	-1.0318	10	0.38643	T	0.18	0.1088	2.0449	0.03558	0.5865:0.1654:0.089:0.1591	.	167	A1E959	ODAM_HUMAN	R	167;153;120	ENSP00000379401:Q167R;ENSP00000426106:Q120R	ENSP00000379401:Q167R	Q	+	2	0	0	ODAM	71100879	71100879	0.545000	0.26449	0.034000	0.17996	0.002000	0.02628	1.020000	0.30027	0.406000	0.25560	-0.290000	0.09829	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-19.967200	1	0.170000	NM_017855			31	30		110	105	1		1	1		0	0	34	0		1	1	0	107	0	38	0	31	110
AMTN	401138	broad.mit.edu	37	4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T	rs374431307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	4					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)				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)			ATGAGGAGTACGATTCTACTG	0.338																																						ENST00000339336.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(10-12)aCg>aTg		amelotin		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	232.0	215.0	221.0		11	-6.8	0.0	4		221	0,8600		0,0,4300	no	missense	AMTN	NM_212557.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	4/210	71384505	1,13005	2203	4300	6503	SO:0001583	missense	401138	3	121404	38				g.chr4:71384505C>T	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.11C>T	chr4.hg19:g.71384505C>T	ENSP00000341013:p.Thr4Met	0					AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	p.T4M	NM_212557.2	NP_997722.1	1	2	3	1.998139	Q6UX39	AMTN_HUMAN	Lung(101;0.235)	2	141	+			Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	1	1	hg19	c.11C>T	CCDS3542.1	1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101948	0.01828	2.27E-4	0.0	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30714	1.52;1.52	5.76	-6.78	0.01721	5.76	-6.78	0.01721	.	2.215910	0.01532	N	0.018838	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.29301	T	0.29	15.6161	16.5503	0.84471	0.0:0.3278:0.0:0.6722	.	4;4	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	4	ENSP00000341013:T4M;ENSP00000422452:T4M	ENSP00000341013:T4M	T	+	2	0	0	AMTN	71419094	71419094	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.921000	0.01569	-2.864000	0.00326	-1.814000	0.00607	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	1	0	1		23	2	2	0		0	1	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_212557			83	83		435	426	1		1			0	0	71	0		1	0	0	0	0	0	0	83	435
AMTN	401138	broad.mit.edu	37	4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	121					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)				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)			TCCAGCCACAAATCTTCACGA	0.478																																						ENST00000339336.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(361-363)caA>caC		amelotin							41.0	42.0	42.0					4																	71396761		2203	4300	6503	SO:0001583	missense	401138	0	0					g.chr4:71396761A>C	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.363A>C	chr4.hg19:g.71396761A>C	ENSP00000341013:p.Gln121His	0					AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	p.Q121H	NM_212557.2	NP_997722.1	1	2	3	1.998139	Q6UX39	AMTN_HUMAN	Lung(101;0.235)	8	493	+			Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	1	1	hg19	c.363A>C	CCDS3542.1	1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062974	0.19987	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	6.01	-3.7	0.04437	6.01	-3.7	0.04437	.	0.365001	0.24285	N	0.039878	T	0.45736	0.1357	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.27140	0.169;0.169	B;B	0.25884	0.064;0.064	T	0.32107	-0.9919	10	0.51188	T	0.08	-0.0032	6.0287	0.19669	0.32:0.3932:0.2867:0.0	.	120;121	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	121;120	ENSP00000341013:Q121H;ENSP00000422452:Q120H	ENSP00000341013:Q121H	Q	+	3	2	2	AMTN	71431350	71431350	0.993000	0.37304	0.090000	0.20809	0.062000	0.15995	0.194000	0.17135	-0.335000	0.08451	-0.321000	0.08615	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_212557			42	41		158	145	0		1			0	0	26	0		1	0	0	0	0	0	0	42	158
AMBN	258	broad.mit.edu	37	4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	343					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582																																						ENST00000322937.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1027-1029)Aca>Gca		ameloblastin (enamel matrix protein)							59.0	58.0	58.0					4																	71472130		2203	4300	6503	SO:0001583	missense	258	0	0					g.chr4:71472130A>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1027A>G	chr4.hg19:g.71472130A>G	ENSP00000313809:p.Thr343Ala	0					AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	p.T343A	NM_016519.5	NP_057603.1	1	2	3	1.998139	Q9NP70	AMBN_HUMAN	Lung(101;0.235)	13	1130	+			Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	1	1	hg19	c.1027A>G	CCDS3543.1	1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239752	0.10023	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29917	1.55;1.55	5.7	-8.38	0.00973	5.7	-8.38	0.00973	.	0.853066	0.10180	N	0.705992	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.24541	0.054	T	0.26121	-1.0112	10	0.56958	D	0.05	1.0762	0.207	0.00152	0.3172:0.1473:0.2035:0.332	.	343	Q9NP70	AMBN_HUMAN	A	343;342;328	ENSP00000313809:T343A;ENSP00000391234:T328A	ENSP00000313809:T343A	T	+	1	0	0	AMBN	71506719	71506719	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.646000	0.01998	-2.229000	0.00720	-1.560000	0.00886	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_016519			44	43		184	180	1		1	0		0	0	46	0		1	0	0	0	0	1	0	44	184
ENAM	10117	broad.mit.edu	37	4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	456					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388																																						ENST00000396073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1366-1368)aGc>aAc		enamelin							34.0	36.0	35.0					4																	71508510		2186	4297	6483	SO:0001583	missense	10117	0	0					g.chr4:71508510G>A	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.1367G>A	chr4.hg19:g.71508510G>A	ENSP00000379383:p.Ser456Asn	0					ENAM_ENST00000472903.1_Intron	p.S456N	NM_031889.2	NP_114095.2	1	2	3	1.998139	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)	9	1648	+			Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	1	1	hg19	c.1367G>A	CCDS3544.2	1	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581836	0.13749	.	.	ENSG00000132464	ENST00000396073	T	0.35973	1.28	5.93	2.02	0.26589	5.93	2.02	0.26589	.	0.623927	0.16087	N	0.230252	T	0.19208	0.0461	L	0.33485	1.01	0.09310	N	1	P	0.39940	0.696	B	0.35550	0.205	T	0.08351	-1.0726	10	0.25106	T	0.35	-1.0E-4	1.8656	0.03198	0.1769:0.1605:0.497:0.1656	.	456	Q9NRM1	ENAM_HUMAN	N	456	ENSP00000379383:S456N	ENSP00000379383:S456N	S	+	2	0	0	ENAM	71727374	71727374	0.000000	0.05858	0.235000	0.24058	0.080000	0.17528	0.331000	0.19733	0.388000	0.25054	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_031889			61	60		227	223	1		1	0		0	0	45	0		1	2.033048e-01	0	1	0	3	0	61	227
ENAM	10117	broad.mit.edu	37	4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	966					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433																																						ENST00000396073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(2896-2898)caA>caC		enamelin							87.0	87.0	87.0					4																	71510041		2203	4300	6503	SO:0001583	missense	10117	0	0					g.chr4:71510041A>C	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.2898A>C	chr4.hg19:g.71510041A>C	ENSP00000379383:p.Gln966His	0					ENAM_ENST00000472903.1_Intron	p.Q966H	NM_031889.2	NP_114095.2	1	2	3	1.998139	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)	9	3179	+			Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	1	1	hg19	c.2898A>C	CCDS3544.2	1	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692445	0.15039	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	-2.09	0.07232	5.97	-2.09	0.07232	.	0.520767	0.17726	N	0.164066	T	0.38241	0.1033	M	0.84683	2.71	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.36089	-0.9762	10	0.87932	D	0	-1.4631	1.4747	0.02423	0.3903:0.1475:0.319:0.1432	.	966	Q9NRM1	ENAM_HUMAN	H	966	ENSP00000379383:Q966H	ENSP00000379383:Q966H	Q	+	3	2	2	ENAM	71728905	71728905	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	-0.121000	0.10643	-0.095000	0.12351	-0.256000	0.11100	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_031889			95	95		312	305	1		1	0		0	0	96	0		1	0	0	0	0	1	0	95	312
ENAM	10117	broad.mit.edu	37	4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1054					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458																																						ENST00000396073.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(3160-3162)Cat>Aat		enamelin							113.0	101.0	105.0					4																	71510303		2203	4300	6503	SO:0001583	missense	10117	0	0					g.chr4:71510303C>A	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.3160C>A	chr4.hg19:g.71510303C>A	ENSP00000379383:p.His1054Asn	0					ENAM_ENST00000472903.1_Intron	p.H1054N	NM_031889.2	NP_114095.2	1	2	3	1.998139	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)	9	3441	+			Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	1	1	hg19	c.3160C>A	CCDS3544.2	1	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095920	0.20552	.	.	ENSG00000132464	ENST00000396073	T	0.28666	1.6	5.95	0.457	0.16661	5.95	0.457	0.16661	.	1.115720	0.06709	N	0.772753	T	0.22322	0.0538	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.33196	0.159	T	0.35151	-0.9800	10	0.59425	D	0.04	0.5967	8.4848	0.33065	0.6254:0.2979:0.0:0.0767	.	1054	Q9NRM1	ENAM_HUMAN	N	1054	ENSP00000379383:H1054N	ENSP00000379383:H1054N	H	+	1	0	0	ENAM	71729167	71729167	0.031000	0.19500	0.080000	0.20451	0.656000	0.38851	0.220000	0.17660	0.265000	0.21872	0.655000	0.94253	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_031889			71	70		325	319	1		1	0		0	0	75	0		1	0	0	0	0	1	0	71	325
IGJ	3512	broad.mit.edu	37	4	71522187	71522187	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.I129I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	113					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418																																						ENST00000254801.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(337-339)atC>atA		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							180.0	145.0	157.0					4																	71522187		2203	4300	6503	SO:0001819	synonymous_variant	3512	0	0					g.chr4:71522187G>T	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.339C>A	chr4.hg19:g.71522187G>T		0					IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	p.I113I	NM_144646.3	NP_653247.1	1	2	3	1.998139	P01591	IGJ_HUMAN	Lung(101;0.235)	4	508	-				Silent	SNP	ENST00000254801.4	1	1	hg19	c.339C>A	CCDS3545.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.816356	1	0.170000	NM_144646			69	69		254	247	0		1	0		0	0	63	0		1	1	0	1	0	7369	0	69	254
UTP3	57050	broad.mit.edu	37	4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438																																						ENST00000254803.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(736-738)Cca>Tca		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							84.0	84.0	84.0					4																	71555130		2203	4300	6503	SO:0001583	missense	57050	0	0					g.chr4:71555130C>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.736C>T	chr4.hg19:g.71555130C>T	ENSP00000254803:p.Pro246Ser	0						p.P246S	NM_020368.2	NP_065101.1	1	2	3	1.998139	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)	1	935	+			Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	1	1	hg19	c.736C>T	CCDS3546.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367264	0.82463	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.64416	0.2596	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65183	-0.6230	10	0.45353	T	0.12	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	S	246	ENSP00000254803:P246S	ENSP00000254803:P246S	P	+	1	0	0	UTP3	71773994	71773994	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.389000	0.73199	2.542000	0.85734	0.603000	0.83216	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	1	0	1		2	2	2	0		0	0	83		83	80	1	2.060000	-20.000000	1	0.170000	NM_020368			78	75		360	356	1		1	1		0	0	83	0		1	1	0	55	0	134	0	78	360
RUFY3	22902	broad.mit.edu	37	4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T	rs368406328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	315					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308																																						ENST00000226328.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				16						c.(943-945)Cga>Tga		RUN and FYVE domain containing 3							68.0	67.0	67.0					4																	71648856		2203	4300	6503	SO:0001587	stop_gained	22902	0	0					g.chr4:71648856C>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.943C>T	chr4.hg19:g.71648856C>T	ENSP00000226328:p.Arg315*	0					RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*	p.R315*	NM_014961.3	NP_055776.1	1	2	3	1.998139	Q7L099	RUFY3_HUMAN	Lung(101;0.235)	9	1506	+		all_hematologic(202;0.248)	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	0	1	hg19	c.943C>T	CCDS3547.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.280902	0.97440	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.6392	14.6544	0.68823	0.1453:0.8547:0.0:0.0	.	.	.	.	X	375;315;315;299;262	.	ENSP00000226328:R315X	R	+	1	2	2	RUFY3	71867720	71867720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.594000	0.36697	2.683000	0.91414	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_014961			27	27		149	147	1		1	1		0	0	34	0		1	9.964373e-01	0	2	0	50	0	27	149
RUFY3	22902	broad.mit.edu	37	4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	352					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAAGAAGAGACACAATTAC	0.338																																						ENST00000226328.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998952	0.990000	1.000000																										0				16						c.(1054-1056)gaG>gaT		RUN and FYVE domain containing 3							66.0	60.0	62.0					4																	71650581		2203	4300	6503	SO:0001583	missense	22902	0	0					g.chr4:71650581G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1056G>T	chr4.hg19:g.71650581G>T	ENSP00000226328:p.Glu352Asp	0					RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D	p.E352D	NM_014961.3	NP_055776.1	1	2	3	1.998139	Q7L099	RUFY3_HUMAN	Lung(101;0.235)	10	1619	+		all_hematologic(202;0.248)	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	1	1	hg19	c.1056G>T	CCDS3547.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179929	0.57800	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.75	2.09	0.27110	5.75	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.61218	1.895	0.58432	D	0.999993	B;D;D;D	0.89917	0.362;1.0;0.984;0.957	B;D;D;P	0.76071	0.217;0.987;0.935;0.723	T	0.01280	-1.1397	10	0.62326	D	0.03	-28.1233	10.1524	0.42803	0.3772:0.0:0.6228:0.0	.	336;352;352;412	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	D	412;352;352;336;299	ENSP00000399771:E412D;ENSP00000370394:E352D;ENSP00000226328:E352D;ENSP00000443652:E336D;ENSP00000425400:E299D	ENSP00000226328:E352D	E	+	3	2	2	RUFY3	71869445	71869445	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.523000	0.35932	0.460000	0.27045	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999990	1	0.170000	NM_014961			14	14		70	69	1		1	0		0	0	19	0		9.998293e-01	9.952791e-01	0	0	0	49	0	14	70
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000254799.6	-	6	1106	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q	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)			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)			GACATGTGTTCGAACTTCATT	0.353																																						ENST00000254799.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(988-990)cGa>cAa		G-rich RNA sequence binding factor 1							151.0	139.0	142.0					4																	71693715		1843	4090	5933	SO:0001583	missense	2926	0	0					g.chr4:71693715C>T	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.989G>A	chr4.hg19:g.71693715C>T	ENSP00000254799:p.Arg330Gln	0					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q	p.R330Q	NM_002092.3	NP_002083	1	2	3	1.998139	Q12849	GRSF1_HUMAN	Lung(101;0.235)	6	1106	-		all_hematologic(202;0.21)	B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	1	1	hg19	c.989G>A	CCDS47069.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.323593|5.323593	0.95708|0.95708	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.06371	.|3.31;3.31;3.31;3.31;3.31	6.07|6.07	6.07|6.07	0.98685|0.98685	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nucleotide-binding, alpha-beta plait (1);	.|0.268407	.|0.37857	.|N	.|0.001914	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.50632|0.50632	D|D	0.999887|0.999887	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.92;0.992	T|T	0.29458|0.29458	-1.0011|-1.0011	6|10	0.13108|0.17369	T|T	0.6|0.5	-0.9839|-0.9839	19.424|19.424	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;330	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	K|Q	267|330;168;262;303;168;212	.|ENSP00000254799:R330Q;ENSP00000389219:R168Q;ENSP00000427354:R303Q;ENSP00000425430:R168Q;ENSP00000443380:R212Q	ENSP00000427644:E95K|ENSP00000254799:R330Q	E|R	-|-	1|2	0|0	0|0	GRSF1|GRSF1	71912579|71912579	71912579|71912579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.468000|2.468000	0.45102|0.45102	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAA|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.542227	1	0.170000	NM_002092			67	65		268	262	1		1	1		0	0	66	0		1	1	0	138	0	324	0	67	268
NPFFR2	10886	broad.mit.edu	37	4	72897828	72897828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	70					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)			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)			CTGCGAAAAGTAGCTGGAGCC	0.667																																						ENST00000308744.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(208-210)agT>agC		neuropeptide FF receptor 2							37.0	41.0	40.0					4																	72897828		2203	4300	6503	SO:0001819	synonymous_variant	10886	1	121408	30				g.chr4:72897828T>C	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.210T>C	chr4.hg19:g.72897828T>C		0					NPFFR2_ENST00000344413.5_Silent_p.S70S	p.S70S	NM_004885.2	NP_004876.2	1	2	3	1.998139	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)	1	308	+			Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	1	1	hg19	c.210T>C	CCDS3551.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_004885			36	35		161	157	1		1			0	0	30	0		1	0	0	0	0	0	0	36	161
NPFFR2	10886	broad.mit.edu	37	4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A	rs534362383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	199					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)			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)			TTGGCATATTCTGCATGCCTA	0.368																																						ENST00000308744.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(595-597)ttC>ttA		neuropeptide FF receptor 2							133.0	127.0	129.0					4																	72994599		2203	4300	6503	SO:0001583	missense	10886	1	121410	35				g.chr4:72994599C>A	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.597C>A	chr4.hg19:g.72994599C>A	ENSP00000307822:p.Phe199Leu	0					NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000344413.5_Intron	p.F199L	NM_004885.2	NP_004876.2	1	2	3	1.998139	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)	2	695	+			Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	1	1	hg19	c.597C>A	CCDS3551.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244796	0.59103	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.69175	-0.38;-0.38;-0.38	5.75	3.64	0.41730	5.75	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.68366	0.2993	L	0.55743	1.74	0.58432	D	0.999999	P;P	0.50710	0.924;0.938	P;P	0.54372	0.635;0.75	T	0.65063	-0.6259	10	0.29301	T	0.29	.	9.2198	0.37370	0.0:0.7274:0.0:0.2726	.	100;199	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	199;100;97	ENSP00000307822:F199L;ENSP00000379321:F100L;ENSP00000351599:F97L	ENSP00000307822:F199L	F	+	3	2	2	NPFFR2	73213463	73213463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.605000	0.36815	1.362000	0.46000	0.650000	0.86243	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_004885			118	116		522	514	1		1			0	0	142	0		1	0	0	0	0	0	0	118	522
ADAMTS3	9508	broad.mit.edu	37	4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	871	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)			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)			CCTACGGCATCCATATTTAGT	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2611-2613)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							127.0	114.0	118.0					4																	73161482		2203	4300	6503	SO:0001583	missense	9508	0	0					g.chr4:73161482C>A	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.2612G>T	chr4.hg19:g.73161482C>A	ENSP00000286657:p.Gly871Val	0						p.G871V	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	19	2648	-			A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	1	1	hg19	c.2612G>T	CCDS3553.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053048	0.75960	.	.	ENSG00000156140	ENST00000286657	T	0.59364	0.27	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.67258	0.2874	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60469	-0.7257	10	0.14656	T	0.56	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	871	O15072	ATS3_HUMAN	V	871	ENSP00000286657:G871V	ENSP00000286657:G871V	G	-	2	0	0	ADAMTS3	73380346	73380346	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.776000	0.85560	2.379000	0.81126	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000				81	80		331	323	1		1	0		0	0	89	0		1	0	0	0	0	1	0	81	331
ADAMTS3	9508	broad.mit.edu	37	4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	709	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)			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)			GCAGTGGGAATTATCTCCTCC	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(2125-2127)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							148.0	135.0	140.0					4																	73175167		2203	4300	6503	SO:0001583	missense	9508	0	0					g.chr4:73175167T>C	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.2126A>G	chr4.hg19:g.73175167T>C	ENSP00000286657:p.Asn709Ser	0						p.N709S	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	15	2162	-			A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	1	1	hg19	c.2126A>G	CCDS3553.1	1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271527	0.59649	.	.	ENSG00000156140	ENST00000286657	T	0.66460	-0.21	5.53	4.35	0.52113	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.71920	2.185	0.49483	D	0.999796	P	0.48911	0.917	B	0.41412	0.356	T	0.67333	-0.5697	10	0.52906	T	0.07	.	11.4011	0.49871	0.0:0.0709:0.0:0.9291	.	709	O15072	ATS3_HUMAN	S	709	ENSP00000286657:N709S	ENSP00000286657:N709S	N	-	2	0	0	ADAMTS3	73394031	73394031	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.938000	0.70170	1.040000	0.40099	0.455000	0.32223	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				72	69		337	330	1		1	0		0	0	95	0		1	0	0	0	0	1	0	72	337
ADAMTS3	9508	broad.mit.edu	37	4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				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)			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)			GGGATTATCAGGATGGCTACA	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				76						c.(1528-1530)cCt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							100.0	95.0	97.0					4																	73181645		2203	4300	6503	SO:0001583	missense	9508	0	0					g.chr4:73181645G>T	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.1529C>A	chr4.hg19:g.73181645G>T	ENSP00000286657:p.Pro510His	0						p.P510H	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	11	1565	-			A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	1	1	hg19	c.1529C>A	CCDS3553.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426721	0.83667	.	.	ENSG00000156140	ENST00000286657	T	0.65732	-0.17	5.63	4.78	0.61160	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80144	-0.1505	10	0.66056	D	0.02	.	14.4007	0.67044	0.071:0.0:0.929:0.0	.	510	O15072	ATS3_HUMAN	H	510	ENSP00000286657:P510H	ENSP00000286657:P510H	P	-	2	0	0	ADAMTS3	73400509	73400509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	1.377000	0.46286	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.834688	1	0.170000				41	41		214	209	1		1	0		0	0	50	0		1	2.562503e-01	0	0	0	6	0	41	214
ADAMTS3	9508	broad.mit.edu	37	4	73185142	73185142	+	Missense_Mutation	SNP	G	G	T	rs188897708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73185142G>T	ENST00000286657.4	-	9	1295	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	420	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)			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)			ACTTCCCATAGCAGTCTCATC	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.100000	4.000000e-01	1.600000e-01	0.260000	0.310714	0.260000	0.230000																										0				76						c.(1258-1260)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							155.0	120.0	132.0					4																	73185142		2203	4300	6503	SO:0001583	missense	9508	0	0					g.chr4:73185142G>T	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.1259C>A	chr4.hg19:g.73185142G>T	ENSP00000286657:p.Ala420Asp	0						p.A420D	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	9	1295	-			A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	0	1	hg19	c.1259C>A	CCDS3553.1	0	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.27	3.347610	0.61183	.	.	ENSG00000156140	ENST00000286657	D	0.86230	-2.09	5.61	5.61	0.85477	5.61	5.61	0.85477	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	N	0.25094	0.71	0.54753	D	0.999983	D	0.60160	0.987	D	0.66497	0.944	D	0.83361	0.0002	10	0.12766	T	0.61	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	420	O15072	ATS3_HUMAN	D	420	ENSP00000286657:A420D	ENSP00000286657:A420D	A	-	2	0	0	ADAMTS3	73404006	73404006	0.928000	0.31464	0.209000	0.23619	0.893000	0.52053	3.955000	0.56715	2.802000	0.96397	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	0	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-6.682810	1	0.170000				6	6		294	288	0		1	0		0	0	52	0		9.627691e-01	0	0	0	0	1	0	6	294
ADAMTS3	9508	broad.mit.edu	37	4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	291	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)			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)			ATCATGGTAAATTTCATTCAC	0.358																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(871-873)aTt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							142.0	143.0	143.0					4																	73188804		2203	4300	6503	SO:0001583	missense	9508	0	0					g.chr4:73188804A>C	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.872T>G	chr4.hg19:g.73188804A>C	ENSP00000286657:p.Ile291Ser	0					RP11-373J21.1_ENST00000503918.1_RNA	p.I291S	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	6	908	-			A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	1	1	hg19	c.872T>G	CCDS3553.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629833	0.87660	.	.	ENSG00000156140	ENST00000286657	T	0.66995	-0.24	6.06	6.06	0.98353	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87671	0.2541	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	291	O15072	ATS3_HUMAN	S	291	ENSP00000286657:I291S	ENSP00000286657:I291S	I	-	2	0	0	ADAMTS3	73407668	73407668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.699000	0.91316	2.324000	0.78689	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	171		171	171	1	2.060000	-20.000000	1	0.170000				133	131		564	554	0		1	0		0	0	171	0		1	9.656810e-02	0	0	0	3	0	133	564
ADAMTS3	9508	broad.mit.edu	37	4	73205355	73205355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	239					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)			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)			CATTCAGCTGCTGGTGGATGT	0.478																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(715-717)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							222.0	216.0	218.0					4																	73205355		2203	4300	6503	SO:0001819	synonymous_variant	9508	0	0					g.chr4:73205355C>T	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.717G>A	chr4.hg19:g.73205355C>T		0						p.Q239Q	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	5	753	-			A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	1	1	hg19	c.717G>A	CCDS3553.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-20.000000	1	0.170000				183	181		814	801	1		1	0		0	0	172	0		1	3.393812e-02	0	0	0	2	0	183	814
ADAMTS3	9508	broad.mit.edu	37	4	73280626	73280626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	189					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)			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)			CTTCCTCCATCTGTTTACCTC	0.378																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.510000	1	6.500000e-01	0.820000	0.822064	0.820000	1.000000																										0				76						c.(565-567)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							168.0	163.0	164.0					4																	73280626		2203	4300	6503	SO:0001819	synonymous_variant	9508	0	0					g.chr4:73280626C>T	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.567G>A	chr4.hg19:g.73280626C>T		0						p.Q189Q	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	4	603	-			A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	1	1	hg19	c.567G>A	CCDS3553.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-6.721884	1	0.170000				20	20		273	268	0		1	0		0	0	71	0		9.999952e-01	0	0	0	0	1	0	20	273
ADAMTS3	9508	broad.mit.edu	37	4	73414462	73414462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	79					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)			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)			TAAAGAACAACTGCTCAGGGT	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(235-237)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							102.0	95.0	98.0					4																	73414462		2203	4300	6503	SO:0001819	synonymous_variant	9508	0	0					g.chr4:73414462C>T	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.237G>A	chr4.hg19:g.73414462C>T		0					ADAMTS3_ENST00000505193.1_5'UTR	p.Q79Q	NM_014243.2	NP_055058.2	1	2	3	1.998139	O15072	ATS3_HUMAN	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)	3	273	-			A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	1	1	hg19	c.237G>A	CCDS3553.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				91	86		337	331	0		1			0	0	85	0		1	0	0	0	0	0	0	91	337
ANKRD17	26057	broad.mit.edu	37	4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2424					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)			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)			ATAGGGACTGGAACTTTCCTG	0.498																																						ENST00000358602.4	1.000000	0.810000	1	9.600000e-01	0.990000	0.981626	0.990000	1.000000																										0				96						c.(7270-7272)Cca>Aca		ankyrin repeat domain 17							125.0	103.0	110.0					4																	73944497		2203	4300	6503	SO:0001583	missense	26057	0	0					g.chr4:73944497G>T	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.7270C>A	chr4.hg19:g.73944497G>T	ENSP00000351416:p.Pro2424Thr	0					ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	p.P2424T	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	31	7386	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	1	1	hg19	c.7270C>A	CCDS34004.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070760	0.76301	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.89552	-2.28;-2.29;-2.53	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.090952	0.47455	D	0.000234	D	0.90858	0.7128	L	0.57536	1.79	0.51233	D	0.999918	P;P;P;P	0.44429	0.835;0.835;0.745;0.745	B;P;B;B	0.47645	0.429;0.553;0.247;0.247	D	0.91150	0.4952	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	2423;2173;2424;2311	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2424;1831;2173;2311	ENSP00000351416:P2424T;ENSP00000332265:P2173T;ENSP00000427151:P2311T	ENSP00000332265:P2173T	P	-	1	0	0	ANKRD17	74163361	74163361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.798000	0.96311	0.650000	0.86243	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_032217			33	32		309	303	1		1	1		0	0	58	0		1	9.999997e-01	0	28	0	192	0	33	309
ANKRD17	26057	broad.mit.edu	37	4	73957906	73957906	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000509867.2_Silent_p.S1700S|ANKRD17_ENST00000330838.6_Silent_p.S1562S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1813					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)			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)			TGGAATTTGCTGAGGAGCTTT	0.378																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(5437-5439)tcA>tcC		ankyrin repeat domain 17							152.0	150.0	150.0					4																	73957906		2203	4300	6503	SO:0001819	synonymous_variant	26057	0	0					g.chr4:73957906T>G	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.5439A>C	chr4.hg19:g.73957906T>G		0					ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	p.S1813S	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	29	5555	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	1	1	hg19	c.5439A>C	CCDS34004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_032217			157	154		676	654	1		1	1		0	0	123	0		1	1	0	31	0	95	0	157	676
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					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)			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)			TGAGAACCTGCCAAAGTTGTC	0.368																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(4654-4656)Gca>Aca		ankyrin repeat domain 17							74.0	73.0	73.0					4																	73964157		2203	4300	6503	SO:0001583	missense	26057	0	0					g.chr4:73964157C>T	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.4654G>A	chr4.hg19:g.73964157C>T	ENSP00000351416:p.Ala1552Thr	0					ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	p.A1552T	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	26	4770	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	1	1	hg19	c.4654G>A	CCDS34004.1	1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793271	0.31685	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63913	-0.07;-0.02;-0.04	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.40743	0.1129	N	0.05078	-0.115	0.40466	D	0.98029	B;B;B;B	0.20550	0.046;0.046;0.027;0.027	B;B;B;B	0.21360	0.034;0.034;0.015;0.006	T	0.44003	-0.9356	10	0.02654	T	1	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	1551;1301;1552;1439	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1552;1301;1439	ENSP00000351416:A1552T;ENSP00000332265:A1301T;ENSP00000427151:A1439T	ENSP00000332265:A1301T	A	-	1	0	0	ANKRD17	74183021	74183021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.465000	0.53064	2.669000	0.90835	0.591000	0.81541	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_032217			67	67		322	316	1		1	1		0	0	65	0		1	9.999998e-01	0	39	0	72	0	67	322
ANKRD17	26057	broad.mit.edu	37	4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1297					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)			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)			ACCTCCGCATATCCACCAGAG	0.428																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(3889-3891)Tat>Cat		ankyrin repeat domain 17							82.0	77.0	79.0					4																	73986015		2203	4300	6503	SO:0001583	missense	26057	0	0					g.chr4:73986015A>G	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.3889T>C	chr4.hg19:g.73986015A>G	ENSP00000351416:p.Tyr1297His	0					ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	p.Y1297H	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	21	4005	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	1	1	hg19	c.3889T>C	CCDS34004.1	1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480170	0.63849	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.61742	0.08;0.08;0.08	5.68	5.68	0.88126	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	T	0.46014	0.1371	N	0.00859	-1.14	0.53688	D	0.999977	B;D;D;D;D	0.89917	0.384;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.808;0.996;0.996;0.998;0.999	T	0.59182	-0.7502	10	0.13108	T	0.6	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	818;1296;1046;1297;1184	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1297;1046;1184	ENSP00000351416:Y1297H;ENSP00000332265:Y1046H;ENSP00000427151:Y1184H	ENSP00000332265:Y1046H	Y	-	1	0	0	ANKRD17	74204879	74204879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_032217			63	62		243	238	1		1	1		0	0	55	0		1	1	0	29	0	76	0	63	243
ANKRD17	26057	broad.mit.edu	37	4	73990976	73990976	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000509867.2_Silent_p.E983E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.E845E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1096					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)			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)			GTACCAGTTCCTCGTGGCCAC	0.388																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(3286-3288)gaG>gaA		ankyrin repeat domain 17							151.0	147.0	148.0					4																	73990976		2203	4300	6503	SO:0001819	synonymous_variant	26057	0	0					g.chr4:73990976C>T	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.3288G>A	chr4.hg19:g.73990976C>T		0					ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	p.E1096E	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	17	3404	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	1	1	hg19	c.3288G>A	CCDS34004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.200607	1	0.170000	NM_032217			107	106		462	457	1		1	1		0	0	75	0		1	1	0	36	0	103	0	107	462
ANKRD17	26057	broad.mit.edu	37	4	74124155	74124155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	77					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)			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)			GGCAAGTCCGGTTACGCTTGG	0.697																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999398	0.990000	1.000000																										0				96						c.(229-231)aaC>aaT		ankyrin repeat domain 17							28.0	28.0	28.0					4																	74124155		2201	4299	6500	SO:0001819	synonymous_variant	26057	0	0					g.chr4:74124155G>A	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.231C>T	chr4.hg19:g.74124155G>A		0					RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.N77N	p.N77N	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	1	347	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	1	1	hg19	c.231C>T	CCDS34004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	0		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_032217			25	25		157	147	0		1	0		0	0	26	0		9.999998e-01	7.570767e-01	0	0	0	19	0	25	157
ANKRD17	26057	broad.mit.edu	37	4	74124188	74124188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	66					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)			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)			GCTGCTGCGGCGGCTTCTTCT	0.687																																						ENST00000358602.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										0				96						c.(196-198)ccG>ccA		ankyrin repeat domain 17							18.0	18.0	18.0					4																	74124188		2200	4278	6478	SO:0001819	synonymous_variant	26057	0	0					g.chr4:74124188C>T	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.198G>A	chr4.hg19:g.74124188C>T		0					RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.P66P	p.P66P	NM_032217.3	NP_115593.3	1	2	3	1.998139	O75179	ANR17_HUMAN	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)	1	314	-	Breast(15;0.000295)		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	1	1	hg19	c.198G>A	CCDS34004.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	0		2	2	2	0		0	0	14		14	12	1	2.060000	-20.000000	1	0.170000	NM_032217			19	19		80	78	0		1	1		0	0	14	0		9.999945e-01	7.035629e-01	0	4	0	8	0	19	80
AFP	174	broad.mit.edu	37	4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	272	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(814-816)Gga>Tga		alpha-fetoprotein							126.0	120.0	122.0					4																	74310810		2203	4300	6503	SO:0001587	stop_gained	174	0	0		Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	g.chr4:74310810G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.814G>T	chr4.hg19:g.74310810G>T	ENSP00000379138:p.Gly272*	0					AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	p.G272*	NM_001134.1	NP_001125.1	1	2	3	1.998139	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)	7	914	+	Breast(15;0.00102)		B2RBU3	Nonsense_Mutation	SNP	ENST00000395792.2	0	1	hg19	c.814G>T	CCDS3556.1	1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474626	0.63737	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	.	.	.	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.063410	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	ENSP00000226359:G272X	G	+	1	0	0	AFP	74529674	74529674	1.000000	0.71417	0.323000	0.25347	0.280000	0.26924	5.146000	0.64845	2.832000	0.97577	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.908200	1	0.170000				81	80		391	380	1		1			0	0	78	0		1	0	0	0	0	0	0	81	391
AFM	173	broad.mit.edu	37	4	74357693	74357693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	316	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)			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)			GCATAATTAACTCAAACAAAG	0.378																																						ENST00000226355.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(946-948)aaC>aaT		afamin							87.0	90.0	89.0					4																	74357693		2203	4300	6503	SO:0001819	synonymous_variant	173	0	0					g.chr4:74357693C>T	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.948C>T	chr4.hg19:g.74357693C>T		0						p.N316N	NM_001133.2	NP_001124.1	1	2	3	1.998139	P43652	AFAM_HUMAN	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)	8	1041	+	Breast(15;0.00102)		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	1	1	hg19	c.948C>T	CCDS3557.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				104	103		337	333	1		1	0		0	0	63	0		1	0	0	0	0	1	0	104	337
RASSF6	166824	broad.mit.edu	37	4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000342081.3	-	9	1043	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000307439.5_Missense_Mutation_p.D273Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	305	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433																																						ENST00000342081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(913-915)Gat>Tat		Ras association (RalGDS/AF-6) domain family member 6							208.0	215.0	212.0					4																	74442353		2203	4300	6503	SO:0001583	missense	166824	0	0					g.chr4:74442353C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.913G>T	chr4.hg19:g.74442353C>A	ENSP00000340578:p.Asp305Tyr	0					RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000307439.5_Missense_Mutation_p.D273Y	p.D305Y	NM_201431.2	NP_958834.1	1	2	3	1.998139	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	9	1043	-	Breast(15;0.00102)		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	1	1	hg19	c.913G>T	CCDS3558.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643034	0.87859	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.34275	2.19;2.19;1.37;2.19	6.07	6.07	0.98685	6.07	6.07	0.98685	Ras-association (2);	0.137026	0.64402	D	0.000005	T	0.65626	0.2709	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.68108	-0.5496	10	0.87932	D	0	-23.6135	18.1378	0.89627	0.0:1.0:0.0:0.0	.	261;239;305	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	Y	273;305;239;261	ENSP00000303877:D273Y;ENSP00000340578:D305Y;ENSP00000379123:D239Y;ENSP00000335582:D261Y	ENSP00000303877:D273Y	D	-	1	0	0	RASSF6	74661217	74661217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	2.884000	0.98904	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_177532			154	152		721	711	1		1	1		0	0	146	0		1	9.999265e-01	0	25	0	40	0	154	721
RASSF6	166824	broad.mit.edu	37	4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000342081.3	-	8	913	c.783G>T	c.(781-783)caG>caT	p.Q261H	RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000307439.5_Missense_Mutation_p.Q229H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	261	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383																																						ENST00000342081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(781-783)caG>caT		Ras association (RalGDS/AF-6) domain family member 6							89.0	92.0	91.0					4																	74447568		2203	4300	6503	SO:0001583	missense	166824	0	0					g.chr4:74447568C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.783G>T	chr4.hg19:g.74447568C>A	ENSP00000340578:p.Gln261His	0					RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000307439.5_Missense_Mutation_p.Q229H	p.Q261H	NM_201431.2	NP_958834.1	1	2	3	1.998139	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	8	913	-	Breast(15;0.00102)		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	1	1	hg19	c.783G>T	CCDS3558.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771961	0.31320	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.30714	2.24;2.24;1.52;2.24	5.38	2.71	0.32032	5.38	2.71	0.32032	Ras-association (3);	0.521869	0.22492	N	0.059351	T	0.23492	0.0568	L	0.41961	1.31	0.25594	N	0.986662	B;B;B	0.29835	0.11;0.029;0.258	B;B;B	0.31614	0.037;0.032;0.133	T	0.13737	-1.0498	10	0.37606	T	0.19	-8.2678	6.7214	0.23332	0.0:0.7153:0.0:0.2846	.	217;195;261	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	H	229;261;195;217	ENSP00000303877:Q229H;ENSP00000340578:Q261H;ENSP00000379123:Q195H;ENSP00000335582:Q217H	ENSP00000303877:Q229H	Q	-	3	2	2	RASSF6	74666432	74666432	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.290000	0.18975	0.653000	0.30826	0.591000	0.81541	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.170092	1	0.170000	NM_177532			59	58		295	289	1		1	1		0	0	58	0		1	9.998437e-01	0	22	0	45	0	59	295
PF4	5196	broad.mit.edu	37	4	74846978	74846978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	83					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448																																						ENST00000296029.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(247-249)tgC>tgT		platelet factor 4	Drotrecogin alfa(DB00055)						84.0	89.0	87.0					4																	74846978		2203	4300	6503	SO:0001819	synonymous_variant	5196	0	0					g.chr4:74846978G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.249C>T	chr4.hg19:g.74846978G>A		0						p.C83C	NM_002619.3	NP_002610.1	1	2	3	1.998139	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)	3	419	-	Breast(15;0.00136)		Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	1	1	hg19	c.249C>T	CCDS3562.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				67	64		313	309	1		1			0	0	66	0		1	0	0	0	0	0	0	67	313
MTHFD2L	441024	broad.mit.edu	37	4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000395759.2	+	7	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	299					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348																																						ENST00000395759.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(895-897)Gga>Aga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							126.0	125.0	125.0					4																	75147231		2203	4300	6503	SO:0001583	missense	441024	0	0					g.chr4:75147231G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.895G>A	chr4.hg19:g.75147231G>A	ENSP00000379108:p.Gly299Arg	0					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	p.G299R	NM_001144978.1	NP_001138450.1	1	2	3	1.998139	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)	7	922	+			Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	1	1	hg19	c.895G>A	CCDS47075.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290676	0.80914	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.57752	0.38;0.38;0.38	5.78	4.94	0.65067	5.78	4.94	0.65067	.	0.096735	0.64402	N	0.000001	T	0.68035	0.2957	M	0.88450	2.955	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.69756	-0.5059	10	0.21540	T	0.41	-30.5517	12.6067	0.56527	0.0805:0.0:0.9195:0.0	.	299	Q9H903	MTD2L_HUMAN	R	299;241;241	ENSP00000379108:G299R;ENSP00000352012:G241R;ENSP00000321984:G241R	ENSP00000321984:G241R	G	+	1	0	0	MTHFD2L	75366095	75366095	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	6.102000	0.71486	1.459000	0.47892	0.580000	0.79431	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-4.189792	1	0.170000	NM_001004346			79	78		256	247	0		1	1		0	0	63	0		1	7.205956e-01	0	2	0	8	0	79	256
PARM1	25849	broad.mit.edu	37	4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	261					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502																																						ENST00000307428.7	1.000000	0.800000	1	9.900000e-01	0.990000	0.988187	0.990000	1.000000																										0				8						c.(781-783)Gcc>Acc		prostate androgen-regulated mucin-like protein 1							40.0	45.0	43.0					4																	75959104		2035	4186	6221	SO:0001583	missense	25849	2	120884	24				g.chr4:75959104G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.781G>A	chr4.hg19:g.75959104G>A	ENSP00000370224:p.Ala261Thr	0					PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	p.A261T	NM_015393.3	NP_056208.2	1	2	3	1.998139	Q6UWI2	PARM1_HUMAN		3	993	+			B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	0	1	hg19	c.781G>A	CCDS47077.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755231	0.89843	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.29908	0.895	0.44500	D	0.997441	D	0.89917	1.0	D	0.97110	1.0	T	0.19321	-1.0309	10	0.87932	D	0	-32.4485	15.4761	0.75481	0.0:0.0:1.0:0.0	.	261	Q6UWI2	PARM1_HUMAN	T	19;261	ENSP00000424276:A19T;ENSP00000370224:A261T	ENSP00000370224:A261T	A	+	1	0	0	PARM1	76178128	76178128	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.204000	0.65180	2.713000	0.92767	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-15.200310	1	0.170000	NM_015393			8	8		47	46	1		1	1		0	0	11	0		9.905174e-01	9.994629e-01	0	4	0	93	0	8	47
PARM1	25849	broad.mit.edu	37	4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	289					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493																																						ENST00000307428.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				8						c.(865-867)aGa>aAa		prostate androgen-regulated mucin-like protein 1							106.0	106.0	106.0					4																	75971390		2096	4242	6338	SO:0001583	missense	25849	0	0					g.chr4:75971390G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.866G>A	chr4.hg19:g.75971390G>A	ENSP00000370224:p.Arg289Lys	0					PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	p.R289K	NM_015393.3	NP_056208.2	1	2	3	1.998139	Q6UWI2	PARM1_HUMAN		4	1078	+			B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	1	1	hg19	c.866G>A	CCDS47077.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581020	0.86748	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	T	0.35364	0.0929	L	0.27053	0.805	0.37882	D	0.930413	D	0.89917	1.0	D	0.83275	0.996	T	0.19614	-1.0300	10	0.87932	D	0	-16.8324	16.9624	0.86275	0.0:0.0:1.0:0.0	.	289	Q6UWI2	PARM1_HUMAN	K	47;289	ENSP00000424276:R47K;ENSP00000370224:R289K	ENSP00000370224:R289K	R	+	2	0	0	PARM1	76190414	76190414	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.093000	0.71422	2.873000	0.98535	0.561000	0.74099	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_015393			25	24		128	120	0		1	1		0	0	37	0		9.999998e-01	9.997947e-01	0	6	0	67	0	25	128
CDKL2	8999	broad.mit.edu	37	4	76523300	76523300	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000429927.2	-	8	1684	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000307465.4_Silent_p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTAAGGAATCATCTTTTTCTT	0.274																																						ENST00000429927.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				22						c.(979-981)gaT>gaC		cyclin-dependent kinase-like 2 (CDC2-related kinase)							38.0	38.0	38.0					4																	76523300		2197	4274	6471	SO:0001819	synonymous_variant	8999	0	0					g.chr4:76523300A>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.981T>C	chr4.hg19:g.76523300A>G		0					CDKL2_ENST00000307465.4_Silent_p.D327D	p.D327D	NM_003948.3	NP_003939.1	1	2	3	1.998139	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)	8	1684	-			B2R695	Silent	SNP	ENST00000429927.2	1	1	hg19	c.981T>C	CCDS3570.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_003948			37	38		191	191	1		1	0		0	0	41	0		1	0	0	0	0	1	0	37	191
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A	rs267600258		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393																																						ENST00000359707.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R78C(2)	upper_aerodigestive_tract(1)|large_intestine(1)	27						c.(232-234)Cgt>Tgt		GTPase activating protein (SH3 domain) binding protein 2							199.0	199.0	199.0					4																	76582860		2203	4300	6503	SO:0001583	missense	9908	0	0					g.chr4:76582860G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.232C>T	chr4.hg19:g.76582860G>A	ENSP00000352738:p.Arg78Cys	0					G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C	p.R78C	NM_203505.2	NP_987101.1	1	2	3	1.998139	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)	4	1017	-			A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	1	1	hg19	c.232C>T	CCDS3571.1	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	0	G3BP2	76801884	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_012297			134	133		569	555	1		1	1		0	0	141	0		1	1	0	93	0	234	0	134	569
USO1	8615	broad.mit.edu	37	4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	rs146437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor	175	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)			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)			GATGGACTTACTAGCGGATTC	0.308																																						ENST00000538159.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999848	0.990000	1.000000																										0				24						c.(529-531)Cta>Gta		USO1 vesicle transport factor							117.0	100.0	105.0					4																	76692258		1822	4092	5914	SO:0001583	missense	8615	1	120784	41				g.chr4:76692258C>G	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.529C>G	chr4.hg19:g.76692258C>G	ENSP00000440586:p.Leu177Val	0					USO1_ENST00000514213.2_Missense_Mutation_p.L160V	p.L177V			1	2	3	1.998139	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)	7	529	+			B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	1	1	hg19	c.529C>G		1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.07	3.295594	0.60086	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.63580	-0.05;-0.05	5.44	-6.59	0.01830	5.44	-6.59	0.01830	Armadillo-type fold (2);	0.155107	0.42172	D	0.000748	T	0.80369	0.4610	M	0.92169	3.28	0.37146	D	0.901955	D;P	0.76494	0.999;0.755	D;P	0.66716	0.946;0.662	D	0.85201	0.1015	10	0.87932	D	0	.	19.9368	0.97143	0.0:0.7953:0.0:0.2047	.	177;175	F5GYR8;O60763	.;USO1_HUMAN	V	10;177;160;103	ENSP00000440586:L177V;ENSP00000444850:L160V	ENSP00000264904:L103V	L	+	1	2	2	USO1	76911282	76911282	0.006000	0.16342	0.668000	0.29813	0.983000	0.72400	-0.294000	0.08309	-1.434000	0.01975	-0.302000	0.09304	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_003715			24	24		130	128	1		1	1		0	0	32	0		9.999998e-01	1	0	82	0	241	0	24	130
USO1	8615	broad.mit.edu	37	4	76715005	76715005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76715005G>A	ENST00000538159.1	+	13	1409	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	USO1_ENST00000514213.2_Missense_Mutation_p.G453D			O60763	USO1_HUMAN	USO1 vesicle transport factor	468	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)			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)			ACAAGTATTGGCAACCCTCCA	0.423																																						ENST00000538159.1	1.000000	0.110000	4.500000e-01	1.900000e-01	0.290000	0.343530	0.290000	0.260000																										0				24						c.(1408-1410)gGc>gAc		USO1 vesicle transport factor							98.0	95.0	96.0					4																	76715005		1862	4108	5970	SO:0001583	missense	8615	0	0					g.chr4:76715005G>A	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.1409G>A	chr4.hg19:g.76715005G>A	ENSP00000440586:p.Gly470Asp	0					USO1_ENST00000514213.2_Missense_Mutation_p.G453D	p.G470D			1	2	3	1.998139	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)	13	1409	+			B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	0	1	hg19	c.1409G>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480795|4.480795	0.84747|0.84747	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T	.|0.72394	.|-0.65	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76821|0.76821	0.4041|0.4041	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49862	.|0.929;0.815	.|P;P	.|0.51487	.|0.614;0.671	T|T	0.78383|0.78383	-0.2225|-0.2225	5|10	.|0.51188	.|T	.|0.08	.|.	18.5297|18.5297	0.90987|0.90987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470;468	.|F5GYR8;O60763	.|.;USO1_HUMAN	T|D	137|303;470;453;396	.|ENSP00000444850:G453D	.|ENSP00000264904:G396D	A|G	+|+	1|2	0|0	0|0	USO1|USO1	76934029|76934029	76934029|76934029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	9.102000|9.102000	0.94226|0.94226	2.373000|2.373000	0.80994|0.80994	0.585000|0.585000	0.79938|0.79938	GCA|GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-3.180150	1	0.170000	NM_003715			6	6		259	249	0		1	1		0	0	51	0		9.611051e-01	9.703350e-01	0	5	0	273	0	6	259
USO1	8615	broad.mit.edu	37	4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor	912					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)			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)			TCTCTTGGTGCTCTTGGCCGA	0.333																																						ENST00000538159.1	1.000000	0.700000	1	9.900000e-01	0.990000	0.977873	0.990000	1.000000																										0				24						c.(2761-2763)Ctc>Atc		USO1 vesicle transport factor							56.0	54.0	55.0					4																	76733463		1833	4085	5918	SO:0001583	missense	8615	0	0					g.chr4:76733463C>A	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.2761C>A	chr4.hg19:g.76733463C>A	ENSP00000440586:p.Leu921Ile	0					USO1_ENST00000514213.2_Missense_Mutation_p.L897I	p.L921I			1	2	3	1.998139	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)	24	2761	+			B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	0	1	hg19	c.2761C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096368|4.096368	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.78|5.78	4.07|4.07	0.47477|0.47477	5.78|5.78	4.07|4.07	0.47477|0.47477	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	.|0.068870	.|0.64402	.|D	.|0.000013	.|T	.|0.75932	.|0.3917	M|M	0.70595|0.70595	2.14|2.14	0.47407|0.47407	D|D	0.999417|0.999417	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.993;0.998	.|T	.|0.74463	.|-0.3657	.|9	.|0.38643	.|T	.|0.18	.|.	12.5974|12.5974	0.56478|0.56478	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|921;912	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	587|747;921;897;840	.|.	.|ENSP00000264904:L840I	C|L	+|+	3|1	2|0	2|0	USO1|USO1	76952487|76952487	76952487|76952487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.342000|3.342000	0.52159|0.52159	0.813000|0.813000	0.34350|0.34350	-0.157000|-0.157000	0.13467|0.13467	TGC|CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-13.797290	1	0.170000	NM_003715			7	7		46	45	1		1	1		0	0	17	0		9.819048e-01	9.999999e-01	0	112	0	335	0	7	46
PPEF2	5470	broad.mit.edu	37	4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797). {ECO:0000305}.	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)			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)			GAAGGAGAGGCGTGGCCCCGT	0.532																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(352-354)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2							245.0	214.0	225.0					4																	76811174		2203	4300	6503	SO:0001583	missense	5470	2	121412	39				g.chr4:76811174C>T	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.353G>A	chr4.hg19:g.76811174C>T	ENSP00000286719:p.Arg118His	0					PPEF2_ENST00000510607.1_5'Flank	p.R118H	NM_006239.2	NP_006230.2	1	2	3	1.998139	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)	5	709	-			O14831	Missense_Mutation	SNP	ENST00000286719.7	1	1	hg19	c.353G>A	CCDS34013.1	1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622910	0.14193	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.50001	0.76	4.8	-0.925	0.10458	4.8	-0.925	0.10458	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.28333	0.0700	N	0.21097	0.63	0.34531	D	0.709223	B;B	0.16802	0.001;0.019	B;B	0.14023	0.002;0.01	T	0.14448	-1.0472	10	0.33141	T	0.24	-1.5701	9.52	0.39129	0.0:0.4153:0.0:0.5847	.	118;118	O14830-2;O14830	.;PPE2_HUMAN	H	118	ENSP00000286719:R118H	ENSP00000286719:R118H	R	-	2	0	0	PPEF2	77030198	77030198	0.000000	0.05858	0.993000	0.49108	0.365000	0.29674	-1.516000	0.02250	-0.137000	0.11455	-0.657000	0.03884	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000	NM_006239			111	109		624	609	1		1			0	0	161	0		1	0	0	0	0	0	0	111	624
SDAD1	55153	broad.mit.edu	37	4	76895229	76895229	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000395711.4_Splice_Site_p.K175K|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	212					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428																																						ENST00000356260.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(634-636)aaG>aaA		SDA1 domain containing 1							190.0	157.0	168.0					4																	76895229		2203	4300	6503	SO:0001630	splice_region_variant	55153	0	0					g.chr4:76895229C>T	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.636+1G>A	chr4.hg19:g.76895229C>T		0					SDAD1_ENST00000395711.4_Splice_Site_p.K175K|SDAD1_ENST00000513089.1_5'Flank	p.K212K	NM_018115.2	NP_060585.2	1	2	3	1.998139	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)	7	754	-			Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Splice_Site	SNP	ENST00000356260.5	1	0	hg19	c.636G>A	CCDS3573.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.241629	1	0.170000	NM_018115	Silent		76	74		377	369	0		1	0		0	0	75	0		1	9.999811e-01	0	0	0	80	0	76	377
NUP54	53371	broad.mit.edu	37	4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000264883.3	-	12	1587	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	483					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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338																																						ENST00000264883.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999513	0.990000	1.000000																										0				19						c.(1447-1449)Gac>Aac		nucleoporin 54kDa							145.0	134.0	138.0					4																	77036596		2203	4300	6503	SO:0001583	missense	53371	0	0					g.chr4:77036596C>T	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.1447G>A	chr4.hg19:g.77036596C>T	ENSP00000264883:p.Asp483Asn	0					NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	p.D483N	NM_017426.2	NP_059122.2	1	2	3	1.998139	Q7Z3B4	NUP54_HUMAN		12	1587	-			B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	1	1	hg19	c.1447G>A	CCDS3576.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.346035	0.95807	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;P;D	0.54207	0.965;0.82;0.965	P;B;P	0.55713	0.782;0.446;0.629	T	0.69803	-0.5046	9	0.37606	T	0.19	-17.7676	20.5792	0.99380	0.0:1.0:0.0:0.0	.	435;267;483	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	483;267;435;303	.	ENSP00000264883:D483N	D	-	1	0	0	NUP54	77255620	77255620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.873000	0.98535	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				31	31		206	204	1		1	1		0	0	54	0		1	1	0	50	0	157	0	31	206
SCARB2	950	broad.mit.edu	37	4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000264896.2	-	11	1737	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	463					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)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTCATCCATGGATCCCTGTCC	0.458																																						ENST00000264896.2	1.000000	0.300000	6.700000e-01	3.900000e-01	0.510000	0.545610	0.510000	0.500000																										0				22						c.(1387-1389)tCc>tTc		scavenger receptor class B, member 2							182.0	160.0	167.0					4																	77084388		2203	4300	6503	SO:0001583	missense	950	0	0					g.chr4:77084388G>A	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.1388C>T	chr4.hg19:g.77084388G>A	ENSP00000264896:p.Ser463Phe	0					SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	p.S463F	NM_005506.3	NP_005497.1	1	2	3	1.998139	Q14108	SCRB2_HUMAN	Lung(101;0.196)	11	1737	-			B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	1	1	hg19	c.1388C>T	CCDS3577.1	0	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294914	0.40594	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.32;-2.69	5.87	5.03	0.67393	5.87	5.03	0.67393	.	0.439500	0.26899	N	0.021921	D	0.84786	0.5549	L	0.29908	0.895	0.29519	N	0.853613	B;B	0.18310	0.027;0.005	B;B	0.12156	0.007;0.004	T	0.79492	-0.1781	10	0.51188	T	0.08	.	12.2472	0.54576	0.0795:0.0:0.9205:0.0	.	320;463	E7EM68;Q14108	.;SCRB2_HUMAN	F	463;320	ENSP00000264896:S463F;ENSP00000399154:S320F	ENSP00000264896:S463F	S	-	2	0	0	SCARB2	77303412	77303412	0.976000	0.34144	0.992000	0.48379	0.714000	0.41099	2.816000	0.48026	1.489000	0.48450	0.655000	0.94253	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-4.367405	1	0.170000	NM_005506			16	16		365	356	0		1	1		0	0	95	0		9.999236e-01	1	0	35	0	1157	0	16	365
CCDC158	339965	broad.mit.edu	37	4	77234349	77234349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77234349C>A	ENST00000388914.3	-	24	3468	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1106								p.D1106N(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						TTTTCCTGGTCTTTTACTTTC	0.338																																						ENST00000388914.3	1.000000	0.290000	9.500000e-01	4.400000e-01	0.650000	0.670833	0.650000	1.000000																										1	Substitution - Missense(1)	p.D1106N(1)	endometrium(1)	56						c.(3316-3318)Gac>Tac		coiled-coil domain containing 158							193.0	169.0	176.0					4																	77234349		1814	4076	5890	SO:0001583	missense	339965	0	0					g.chr4:77234349C>A	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.3316G>T	chr4.hg19:g.77234349C>A	ENSP00000373566:p.Asp1106Tyr	0						p.D1106Y	NM_001042784.1	NP_001036249.1	1	2	3	1.998139	Q5M9N0	CD158_HUMAN		24	3468	-			Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	0	1	hg19	c.3316G>T	CCDS43242.1	0	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627052	0.66901	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.38401	1.14	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000060	T	0.43122	0.1233	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11767	-1.0574	10	0.14252	T	0.57	.	12.5383	0.56154	0.0:0.9215:0.0:0.0785	.	1106	Q5M9N0	CD158_HUMAN	Y	1106;526	ENSP00000373566:D1106Y	ENSP00000316815:D526Y	D	-	1	0	0	CCDC158	77453373	77453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	2.753000	0.94483	0.557000	0.71058	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-10.708470	1	0.170000	NM_001042784			7	6		129	127	0		1	0		0	0	20	0		9.799492e-01	3.753519e-03	0	0	0	2	0	7	129
CCDC158	339965	broad.mit.edu	37	4	77288498	77288498	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	593										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						TCTCCAGTTGAGCTTTTTCTA	0.413																																						ENST00000388914.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1777-1779)gcT>gcC		coiled-coil domain containing 158							108.0	104.0	105.0					4																	77288498		1887	4103	5990	SO:0001819	synonymous_variant	339965	0	0					g.chr4:77288498A>G	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.1779T>C	chr4.hg19:g.77288498A>G		0						p.A593A	NM_001042784.1	NP_001036249.1	1	2	3	1.998139	Q5M9N0	CD158_HUMAN		11	1931	-			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	1	1	hg19	c.1779T>C	CCDS43242.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_001042784			91	89		438	427	1		1			0	0	87	0		1	0	0	0	0	0	0	91	438
CCDC158	339965	broad.mit.edu	37	4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000388914.3	-	6	897	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	249										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						GATTTCAGTGCTTCAAGTTGA	0.363																																						ENST00000388914.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(745-747)Gca>Tca		coiled-coil domain containing 158							241.0	207.0	218.0					4																	77304873		1839	4086	5925	SO:0001583	missense	339965	0	0					g.chr4:77304873C>A	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.745G>T	chr4.hg19:g.77304873C>A	ENSP00000373566:p.Ala249Ser	0					CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	p.A249S	NM_001042784.1	NP_001036249.1	1	2	3	1.998139	Q5M9N0	CD158_HUMAN		6	897	-			Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	1	1	hg19	c.745G>T	CCDS43242.1	1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632564	0.14322	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.32515	1.55;1.45	5.78	0.505	0.16953	5.78	0.505	0.16953	.	0.527792	0.17548	N	0.170298	T	0.08179	0.0204	N	0.02539	-0.55	0.22424	N	0.999117	B;B	0.20052	0.041;0.001	B;B	0.15484	0.013;0.003	T	0.32348	-0.9910	10	0.07030	T	0.85	.	3.4218	0.07396	0.2284:0.2999:0.0:0.4717	.	249;249	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	249	ENSP00000373566:A249S;ENSP00000401742:A249S	ENSP00000316815:A249S	A	-	1	0	0	CCDC158	77523897	77523897	0.999000	0.42202	0.997000	0.53966	0.901000	0.52897	0.400000	0.20932	0.132000	0.18615	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_001042784			59	59		328	325	1		1			0	0	64	0		1	0	0	0	0	0	0	59	328
CCDC158	339965	broad.mit.edu	37	4	77305391	77305391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000388914.3	-	5	728	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000434846.2_Silent_p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	192										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						AGTCAACTAGGATTGACCGGA	0.428																																						ENST00000388914.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(574-576)atC>atT		coiled-coil domain containing 158							137.0	127.0	130.0					4																	77305391		1895	4118	6013	SO:0001819	synonymous_variant	339965	0	0					g.chr4:77305391G>A	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.576C>T	chr4.hg19:g.77305391G>A		0					CCDC158_ENST00000434846.2_Silent_p.I192I	p.I192I	NM_001042784.1	NP_001036249.1	1	2	3	1.998139	Q5M9N0	CD158_HUMAN		5	728	-			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	1	1	hg19	c.576C>T	CCDS43242.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_001042784			102	101		452	446	1		1			0	0	117	0		1	0	0	0	0	0	0	102	452
SHROOM3	57619	broad.mit.edu	37	4	77631357	77631357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	124					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537																																						ENST00000296043.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(370-372)ttC>ttT		shroom family member 3							111.0	99.0	103.0					4																	77631357		2203	4300	6503	SO:0001819	synonymous_variant	57619	0	0					g.chr4:77631357C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.372C>T	chr4.hg19:g.77631357C>T		0					SHROOM3_ENST00000473602.1_3'UTR	p.F124F	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	3	1325	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	1	1	hg19	c.372C>T	CCDS3579.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.192661	1	0.170000	NM_020859			82	79		348	332	1		1	1		0	0	79	0		1	1	0	45	0	62	0	82	348
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	rs202185868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547																																						ENST00000296043.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(874-876)Cga>Tga		shroom family member 3							50.0	49.0	49.0					4																	77660200		2203	4300	6503	SO:0001587	stop_gained	57619	0	0					g.chr4:77660200C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.874C>T	chr4.hg19:g.77660200C>T	ENSP00000296043:p.Arg292*	0						p.R292*	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	5	1827	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	0	1	hg19	c.874C>T	CCDS3579.2	1	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	2	SHROOM3	77879224	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.369684	1	0.170000	NM_020859			46	44		178	173	1		1	1		0	0	68	0		1	1	0	75	0	60	0	46	178
SHROOM3	57619	broad.mit.edu	37	4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T	rs576535579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	613					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.0					ENST00000296043.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1837-1839)gCg>gTg		shroom family member 3							146.0	149.0	148.0					4																	77661164		2203	4300	6503	SO:0001583	missense	57619	2	121408	35				g.chr4:77661164C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1838C>T	chr4.hg19:g.77661164C>T	ENSP00000296043:p.Ala613Val	0						p.A613V	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	5	2791	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	1	1	hg19	c.1838C>T	CCDS3579.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733713|-1.733713	0.00687|0.00687	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000296043|ENST00000380735	T|.	0.17854|.	2.25|.	5.64|5.64	-3.6|-3.6	0.04570|0.04570	5.64|5.64	-3.6|-3.6	0.04570|0.04570	.|.	1.549080|.	0.03546|.	N|.	0.224670|.	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.002|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|6	0.06625|0.72032	T|D	0.88|0.01	-4.4057|-4.4057	8.8457|8.8457	0.35168|0.35168	0.0:0.4991:0.1238:0.3771|0.0:0.4991:0.1238:0.3771	.|.	437;613;391|.	B4E244;Q8TF72;B3KY47|.	.;SHRM3_HUMAN;.|.	V|W	613|153	ENSP00000296043:A613V|.	ENSP00000296043:A613V|ENSP00000370111:R153W	A|R	+|+	2|1	0|2	0|2	SHROOM3|SHROOM3	77880188|77880188	77880188|77880188	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.204000|0.204000	0.24138|0.24138	0.001000|0.001000	0.13038|0.13038	-0.485000|-0.485000	0.06754|0.06754	0.462000|0.462000	0.41574|0.41574	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1		2	2	2	0		0	0	162		162	160	1	2.060000	-20.000000	1	0.170000	NM_020859			131	129		673	667	1		1	1		0	0	162	0		1	1	0	102	0	97	0	131	673
SHROOM3	57619	broad.mit.edu	37	4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	745					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGAAGAGCCGCCTGCCCCC	0.697																																						ENST00000296043.6	1.000000	0.740000	1	9.000000e-01	0.990000	0.965935	0.990000	1.000000																										0				60						c.(2233-2235)cCg>cTg		shroom family member 3							16.0	20.0	18.0					4																	77661560		2188	4281	6469	SO:0001583	missense	57619	3	121178	34				g.chr4:77661560C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2234C>T	chr4.hg19:g.77661560C>T	ENSP00000296043:p.Pro745Leu	0						p.P745L	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	5	3187	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	1	1	hg19	c.2234C>T	CCDS3579.2	1	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560874	0.03939	.	.	ENSG00000138771	ENST00000296043	T	0.30981	1.51	4.93	1.23	0.21249	4.93	1.23	0.21249	.	1.031020	0.07679	N	0.936730	T	0.27900	0.0687	L	0.48362	1.52	0.09310	N	1	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.14023	0.006;0.01;0.01	T	0.30327	-0.9982	10	0.23302	T	0.38	-2.7222	12.1817	0.54216	0.0:0.6199:0.0:0.3801	.	569;745;523	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	745	ENSP00000296043:P745L	ENSP00000296043:P745L	P	+	2	0	0	SHROOM3	77880584	77880584	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.382000	0.20635	-0.120000	0.11809	-2.041000	0.00417	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1		2	2	2	0		0	0	34		34	32	1	2.060000	-20.000000	1	0.170000	NM_020859			29	29		289	284	1		1	1		0	0	34	0		1	9.986793e-01	0	33	0	71	0	29	289
SHROOM3	57619	broad.mit.edu	37	4	77675851	77675851	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1405					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637																																						ENST00000296043.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				60						c.(4213-4215)ggC>ggT		shroom family member 3							51.0	42.0	45.0					4																	77675851		2203	4300	6503	SO:0001819	synonymous_variant	57619	1	121412	21				g.chr4:77675851C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4215C>T	chr4.hg19:g.77675851C>T		0					RP11-359D14.2_ENST00000452412.1_RNA	p.G1405G	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	7	5168	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	1	1	hg19	c.4215C>T	CCDS3579.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	0		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_020859			36	35		173	167	1		1	1		0	0	28	0		1	1	0	44	0	168	0	36	173
SHROOM3	57619	broad.mit.edu	37	4	77675938	77675938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1434					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562																																						ENST00000296043.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(4300-4302)gcC>gcT		shroom family member 3							50.0	45.0	47.0					4																	77675938		2203	4300	6503	SO:0001819	synonymous_variant	57619	0	0					g.chr4:77675938C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4302C>T	chr4.hg19:g.77675938C>T		0					RP11-359D14.2_ENST00000452412.1_RNA	p.A1434A	NM_020859.3	NP_065910.3	1	2	3	1.998139	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)	7	5255	+			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	1	1	hg19	c.4302C>T	CCDS3579.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_020859			41	41		172	172	1		1	1		0	0	31	0		1	1	0	102	0	87	0	41	172
CCNI	10983	broad.mit.edu	37	4	77976531	77976531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	ENST00000237654.4	-	6	1038	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_ENST00000537948.1_Silent_p.F140F|CCNI_ENST00000504697.1_5'Flank	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	154					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CAATGGCATGGAACTGAAAAT	0.333																																						ENST00000237654.4	1.000000	0.430000	1	6.100000e-01	0.840000	0.817608	0.840000	1.000000																										0				9						c.(460-462)ttC>ttT		cyclin I							65.0	62.0	63.0					4																	77976531		2203	4300	6503	SO:0001819	synonymous_variant	10983	0	0					g.chr4:77976531G>A	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.462C>T	chr4.hg19:g.77976531G>A		0					CCNI_ENST00000504697.1_5'Flank|CCNI_ENST00000537948.1_Silent_p.F140F	p.F154F	NM_006835.2	NP_006826.1	1	2	3	1.998139	Q14094	CCNI_HUMAN		6	1038	-			B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	0	1	hg19	c.462C>T	CCDS3580.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-14.347130	1	0.170000	NM_006835			10	10		136	133	0		1	1		0	0	29	0		9.968881e-01	1	0	105	0	1013	0	10	136
CCNG2	901	broad.mit.edu	37	4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	181					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333																																						ENST00000316355.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(541-543)aGc>aAc		cyclin G2							51.0	58.0	56.0					4																	78082647		2203	4300	6503	SO:0001583	missense	901	0	0					g.chr4:78082647G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.542G>A	chr4.hg19:g.78082647G>A	ENSP00000315743:p.Ser181Asn	0					CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	p.S181N	NM_004354.2	NP_004345.1	1	2	3	1.998139	Q16589	CCNG2_HUMAN		5	898	+			B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	1	1	hg19	c.542G>A	CCDS3581.1	1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789230	0.16258	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.79	1.94	0.25998	5.79	1.94	0.25998	.	0.206903	0.64402	N	0.000008	T	0.12305	0.0299	N	0.08118	0	0.35924	D	0.832029	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.25606	-1.0127	10	0.07482	T	0.82	-6.0749	9.1384	0.36888	0.5175:0.0:0.4825:0.0	.	181;181	B4DF25;Q16589	.;CCNG2_HUMAN	N	181	ENSP00000315743:S181N;ENSP00000346379:S181N;ENSP00000424665:S181N;ENSP00000379002:S181N;ENSP00000426476:S181N	ENSP00000315743:S181N	S	+	2	0	0	CCNG2	78301671	78301671	0.987000	0.35691	0.933000	0.37362	0.985000	0.73830	1.740000	0.38228	0.311000	0.23014	-0.345000	0.07892	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_004354			52	51		224	220	1		1	1		0	0	39	0		1	1	0	58	0	143	0	52	224
CCNG2	901	broad.mit.edu	37	4	78086953	78086953	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378																																						ENST00000316355.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.e8-1		cyclin G2							84.0	82.0	82.0					4																	78086953		2203	4300	6503	SO:0001630	splice_region_variant	901	0	0					g.chr4:78086953G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.912-1G>A	chr4.hg19:g.78086953G>A		0					CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron		NM_004354.2	NP_004345.1	1	2	3	1.998139	Q16589	CCNG2_HUMAN		8	1267	+			B4DF25|Q6FGA7|Q6FGC6	Splice_Site	SNP	ENST00000316355.5	1	1	hg19		CCDS3581.1	1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794848	0.50102	.	.	ENSG00000138764	ENST00000316355;ENST00000502280;ENST00000395640	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8598	0.86014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CCNG2	78305977	78305977	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.334000	0.96470	2.407000	0.81776	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	1	0	1		2	2	2	0		0	0	49		49	47	1	2.060000	-20.000000	1	0.170000	NM_004354	Intron		42	41		205	205	1		1	1		0	0	49	0		1	9.915332e-01	0	24	0	15	0	42	205
CNOT6L	246175	broad.mit.edu	37	4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	406	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|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 cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428																																						ENST00000504123.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1216-1218)Gtg>Atg		CCR4-NOT transcription complex, subunit 6-like							120.0	117.0	118.0					4																	78650044		1881	4113	5994	SO:0001583	missense	246175	0	0					g.chr4:78650044C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1216G>A	chr4.hg19:g.78650044C>T	ENSP00000424896:p.Val406Met	0					CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M	p.V406M			1	2	3	1.998139	Q96LI5	CNO6L_HUMAN		10	1346	-			Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	1	1	hg19	c.1216G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368717|4.368717	0.82463|0.82463	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97642|0.97642	0.9227|0.9227	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.884	.|D;P	.|0.69654	.|0.965;0.696	D|D	0.98104|0.98104	1.0416|1.0416	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;406	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|M	434|406;406;413;181	.|ENSP00000424896:V406M;ENSP00000264903:V406M;ENSP00000425571:V413M;ENSP00000426320:V181M	.|ENSP00000264903:V406M	G|V	-|-	2|1	0|0	0|0	CNOT6L|CNOT6L	78869068|78869068	78869068|78869068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GGT|GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	1		2	2	2	0		0	0	114		114	115	1	2.060000	-20.000000	1	0.170000				88	87		520	505	1		1	1		0	0	114	0		1	9.959724e-01	0	8	0	43	0	88	520
CNOT6L	246175	broad.mit.edu	37	4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	362	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|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 cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408																																						ENST00000504123.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1084-1086)Cat>Tat		CCR4-NOT transcription complex, subunit 6-like							111.0	105.0	107.0					4																	78650176		1858	4089	5947	SO:0001583	missense	246175	0	0					g.chr4:78650176G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1084C>T	chr4.hg19:g.78650176G>A	ENSP00000424896:p.His362Tyr	0					CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y	p.H362Y			1	2	3	1.998139	Q96LI5	CNO6L_HUMAN		10	1214	-			Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	1	1	hg19	c.1084C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.042181|4.042181	0.75732|0.75732	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87297|0.87297	0.6142|0.6142	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.565	.|D;P	.|0.87578	.|0.998;0.77	D|D	0.85435|0.85435	0.1151|0.1151	5|10	.|0.39692	.|T	.|0.17	-4.3727|-4.3727	19.8926|19.8926	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;362	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	V|Y	390|362;362;369;137	.|ENSP00000424896:H362Y;ENSP00000264903:H362Y;ENSP00000425571:H369Y;ENSP00000426320:H137Y	.|ENSP00000264903:H362Y	A|H	-|-	2|1	0|0	0|0	CNOT6L|CNOT6L	78869200|78869200	78869200|78869200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	0	0	0		2	2	2	0		0	0	123		123	135	1	2.060000	-20.000000	1	0.170000				93	90		453	435	1		1	1		0	0	123	0		1	9.993965e-01	0	21	0	34	0	93	453
CNOT6L	246175	broad.mit.edu	37	4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	348	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|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 cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393																																						ENST00000504123.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1042-1044)gCt>gTt		CCR4-NOT transcription complex, subunit 6-like							87.0	83.0	84.0					4																	78650217		1848	4099	5947	SO:0001583	missense	246175	0	0					g.chr4:78650217G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1043C>T	chr4.hg19:g.78650217G>A	ENSP00000424896:p.Ala348Val	0					CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V	p.A348V			1	2	3	1.998139	Q96LI5	CNO6L_HUMAN		10	1173	-			Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	1	1	hg19	c.1043C>T		1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545002	0.45280	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.43688	1.53;1.53;1.68;0.94	5.63	5.63	0.86233	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.297866	0.37304	N	0.002160	T	0.22742	0.0549	N	0.03154	-0.405	0.40114	D	0.976523	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.14476	-1.0471	10	0.11485	T	0.65	-3.1273	18.444	0.90677	0.0:0.0:1.0:0.0	.	321;348	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	V	348;348;355;123	ENSP00000424896:A348V;ENSP00000264903:A348V;ENSP00000425571:A355V;ENSP00000426320:A123V	ENSP00000264903:A348V	A	-	2	0	0	CNOT6L	78869241	78869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.653000	0.90120	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	0		2	2	2	0		0	0	98		98	104	1	2.060000	-20.000000	1	0.170000				88	86		354	334	1		1	1		0	0	98	0		1	9.999489e-01	0	13	0	47	0	88	354
CNOT6L	246175	broad.mit.edu	37	4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|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 cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428																																						ENST00000504123.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999937	0.990000	1.000000																										0				9						c.(175-177)Aca>Cca		CCR4-NOT transcription complex, subunit 6-like							87.0	82.0	83.0					4																	78695823		1969	4180	6149	SO:0001583	missense	246175	0	0					g.chr4:78695823T>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.175A>C	chr4.hg19:g.78695823T>G	ENSP00000424896:p.Thr59Pro	0					CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P|CNOT6L_ENST00000506166.1_5'UTR	p.T59P			1	2	3	1.998139	Q96LI5	CNO6L_HUMAN		3	305	-			Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	0	1	hg19	c.175A>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459601|4.459601	0.84317|0.84317	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.59224	.|0.28;0.28;0.28;0.28	4.29|4.29	4.29|4.29	0.51040|0.51040	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.61218|0.61218	1.895|1.895	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	0.75761|0.75761	-0.3204|-0.3204	5|10	.|0.72032	.|D	.|0.01	-14.9073|-14.9073	13.7427|13.7427	0.62857|0.62857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;59	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	A|P	87|59;59;66;59	.|ENSP00000424896:T59P;ENSP00000264903:T59P;ENSP00000425571:T66P;ENSP00000426269:T59P	.|ENSP00000264903:T59P	D|T	-|-	2|1	0|0	0|0	CNOT6L|CNOT6L	78914847|78914847	78914847|78914847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.946000|7.946000	0.87746|0.87746	1.685000|1.685000	0.51034|0.51034	0.459000|0.459000	0.35465|0.35465	GAC|ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000				28	27		152	151	1		1	1		0	0	18	0		1	9.995120e-01	0	14	0	54	0	28	152
MRPL1	65008	broad.mit.edu	37	4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	177			F -> S (in dbSNP:rs17855456). {ECO:0000269|PubMed:15489334}.		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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328																																						ENST00000315567.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(529-531)tTt>tCt		mitochondrial ribosomal protein L1							126.0	124.0	125.0					4																	78808417		2203	4300	6503	SO:0001583	missense	65008	0	0					g.chr4:78808417T>C	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.530T>C	chr4.hg19:g.78808417T>C	ENSP00000315017:p.Phe177Ser	0					MRPL1_ENST00000506674.1_3'UTR	p.F177S	NM_020236.3	NP_064621.3	1	2	3	1.998139	Q9BYD6	RM01_HUMAN		5	859	+			A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	1	1	hg19	c.530T>C	CCDS3583.2	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123426	0.77436	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.44881	0.91	5.96	3.51	0.40186	5.96	3.51	0.40186	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.356101	0.33670	N	0.004665	T	0.48624	0.1510	M	0.74881	2.28	0.36811	D	0.885884	P;P	0.46457	0.673;0.878	B;P	0.49683	0.393;0.619	T	0.54957	-0.8215	10	0.59425	D	0.04	-11.0467	6.1015	0.20049	0.1439:0.0769:0.0:0.7792	rs17855456;rs17855456	155;177	A0PJ79;Q9BYD6	.;RM01_HUMAN	S	177;155	ENSP00000315017:F177S	ENSP00000315017:F177S	F	+	2	0	0	MRPL1	79027441	79027441	1.000000	0.71417	0.875000	0.34327	0.978000	0.69477	4.046000	0.57376	0.498000	0.27948	0.528000	0.53228	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_020236			62	59		295	285	1		1	1		0	0	50	0		1	1	0	54	0	96	0	62	295
FRAS1	80144	broad.mit.edu	37	4	79367898	79367898	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1958					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)			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						ACGATGAGCCTCCCAGGATGA	0.443																																						ENST00000264895.6	1.000000	0.270000	9.100000e-01	4.200000e-01	0.620000	0.648641	0.620000	1.000000																										0				103						c.(5872-5874)ccT>ccC		Fraser extracellular matrix complex subunit 1							62.0	65.0	64.0					4																	79367898		1967	4164	6131	SO:0001819	synonymous_variant	80144	1	120860	27				g.chr4:79367898T>C	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.5874T>C	chr4.hg19:g.79367898T>C		0						p.P1958P	NM_025074.6	NP_079350.5	1	2	3	1.998139	Q86XX4	FRAS1_HUMAN		43	6314	+			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	1	1	hg19	c.5874T>C	CCDS54771.1	0	.	.	.	.	.	.	.	.	.	.	T	1.378	-0.584137	0.03827	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.78	-1.45	0.08828	5.78	-1.45	0.08828	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	0.682	0.00876	0.3835:0.2441:0.1189:0.2534	.	.	.	.	P	187	.	.	S	+	1	0	0	FRAS1	79586922	79586922	0.999000	0.42202	0.991000	0.47740	0.106000	0.19336	0.367000	0.20382	-0.432000	0.07297	-1.140000	0.01884	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-4.247716	1	0.170000				7	7		135	131	0		1	0		0	0	36	0		9.794453e-01	1.885321e-02	0	0	0	4	0	7	135
FRAS1	80144	broad.mit.edu	37	4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2875	Calx-beta 3.				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)			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						GGATGACACTCAGTATCCGGT	0.458																																						ENST00000264895.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(8635-8637)Cag>Tag		Fraser extracellular matrix complex subunit 1							227.0	228.0	228.0					4																	79403572		1932	4137	6069	SO:0001587	stop_gained	80144	1	120842	36				g.chr4:79403572C>T	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.8635C>T	chr4.hg19:g.79403572C>T	ENSP00000264895:p.Gln2879*	0						p.Q2879*	NM_025074.6	NP_079350.5	1	2	3	1.998139	Q86XX4	FRAS1_HUMAN		58	9075	+			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	0	1	hg19	c.8635C>T	CCDS54771.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.690586|9.690586	0.99240|0.99240	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.059791|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76990	.|0.4065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|4	0.40728|.	T|.	0.16|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2879|1107	.|.	ENSP00000264895:Q2879X|.	Q|S	+|+	1|2	0|0	0|0	FRAS1|FRAS1	79622596|79622596	79622596|79622596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CAG|TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	220		220	217	1	2.060000	-3.360418	1	0.170000				192	189		808	799	0		1	0		0	0	220	0		1	1.698795e-01	0	0	0	4	0	192	808
FRAS1	80144	broad.mit.edu	37	4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3095	Calx-beta 5.				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)			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						CCCAAAGAGCCGAGTCTTGAA	0.483																																						ENST00000264895.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(9295-9297)Cga>Tga		Fraser extracellular matrix complex subunit 1							122.0	116.0	118.0					4																	79421054		1912	4149	6061	SO:0001587	stop_gained	80144	0	0					g.chr4:79421054C>T	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.9295C>T	chr4.hg19:g.79421054C>T	ENSP00000264895:p.Arg3099*	0						p.R3099*	NM_025074.6	NP_079350.5	1	2	3	1.998139	Q86XX4	FRAS1_HUMAN		61	9735	+			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	0	1	hg19	c.9295C>T	CCDS54771.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.057578|9.057578	0.99051|0.99051	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.91|5.91	3.13|3.13	0.36017|0.36017	5.91|5.91	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	4|.	.|0.02654	.|T	.|1	.|.	14.9947|14.9947	0.71421|0.71421	0.3824:0.6176:0.0:0.0|0.3824:0.6176:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1327|3099	.|.	.|ENSP00000264895:R3099X	P|R	+|+	2|1	0|2	0|2	FRAS1|FRAS1	79640078|79640078	79640078|79640078	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.505000|0.505000	0.33919|0.33919	1.505000|1.505000	0.35736|0.35736	0.331000|0.331000	0.23511|0.23511	0.655000|0.655000	0.94253|0.94253	CCG|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-3.486758	1	0.170000				101	97		373	372	1		1	0		0	0	135	0		1	2.925186e-01	0	0	0	5	0	101	373
FRAS1	80144	broad.mit.edu	37	4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3107	Calx-beta 5.				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)			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						ATCATATCTTTTTTAAAGTTG	0.473																																						ENST00000264895.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999818	0.990000	1.000000																										0				103						c.(9331-9333)ttT>ttG		Fraser extracellular matrix complex subunit 1							97.0	89.0	92.0					4																	79428591		1944	4136	6080	SO:0001583	missense	80144	0	0					g.chr4:79428591T>G	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.9333T>G	chr4.hg19:g.79428591T>G	ENSP00000264895:p.Phe3111Leu	0						p.F3111L	NM_025074.6	NP_079350.5	1	2	3	1.998139	Q86XX4	FRAS1_HUMAN		62	9773	+			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	1	1	hg19	c.9333T>G	CCDS54771.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.037|9.037	0.988810|0.988810	0.18966|0.18966	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.28454|0.28895	1.61|1.59	5.25|5.25	-3.37|-3.37	0.04898|0.04898	5.25|5.25	-3.37|-3.37	0.04898|0.04898	.|.	0.645296|0.645296	0.14834|0.14834	N|N	0.295696|0.295696	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|8	0.08837|0.08837	T|T	0.75|0.75	.|.	5.8971|5.8971	0.18945|0.18945	0.1005:0.5096:0.1866:0.2032|0.1005:0.5096:0.1866:0.2032	.|.	3110;3111|.	Q86XX4-2;E9PHH6|.	.;.|.	L|V	3111|1340	ENSP00000264895:F3111L|ENSP00000422834:F1340V	ENSP00000264895:F3111L|ENSP00000422834:F1340V	F|F	+|+	3|1	2|0	2|0	FRAS1|FRAS1	79647615|79647615	79647615|79647615	0.005000|0.005000	0.15991|0.15991	0.964000|0.964000	0.40570|0.40570	0.939000|0.939000	0.58152|0.58152	-1.613000|-1.613000	0.02059|0.02059	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	TTT|TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				23	19		124	121	1		1	0		0	0	23	0		9.999994e-01	2.487329e-01	0	1	0	5	0	23	124
FRAS1	80144	broad.mit.edu	37	4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A	rs376591687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3855					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)			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						GGTAGAGCCCGATGGCCAGCT	0.537																																						ENST00000264895.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				103						c.(11575-11577)Gat>Aat		Fraser extracellular matrix complex subunit 1		A	ASN/ASP	0,4042		0,0,2021	42.0	45.0	44.0		11575	4.3	1.0	4		44	1,8363		0,1,4181	no	missense	FRAS1	NM_025074.6	23	0,1,6202	AA,AG,GG		0.012,0.0,0.0081	benign	3859/4013	79461814	1,12405	2021	4182	6203	SO:0001583	missense	80144	2	120948	32				g.chr4:79461814G>A	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.11575G>A	chr4.hg19:g.79461814G>A	ENSP00000264895:p.Asp3859Asn	0						p.D3859N	NM_025074.6	NP_079350.5	1	2	3	1.998139	Q86XX4	FRAS1_HUMAN		74	12015	+			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	1	1	hg19	c.11575G>A	CCDS54771.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.470|5.470	0.271699|0.271699	0.10349|0.10349	0.0|0.0	1.2E-4|1.2E-4	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.40756|.	1.02|.	5.55|5.55	4.31|4.31	0.51392|0.51392	5.55|5.55	4.31|4.31	0.51392|0.51392	.|.	0.453509|.	0.24245|.	N|.	0.040236|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.39692|.	T|.	0.17|.	.|.	5.7709|5.7709	0.18253|0.18253	0.725:0.0:0.1481:0.1269|0.725:0.0:0.1481:0.1269	.|.	3859|.	E9PHH6|.	.|.	N|Q	3859|2087	ENSP00000264895:D3859N|.	ENSP00000264895:D3859N|.	D|R	+|+	1|2	0|0	0|0	FRAS1|FRAS1	79680838|79680838	79680838|79680838	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	1.166000|1.166000	0.31834|0.31834	1.120000|1.120000	0.41904|0.41904	-0.352000|-0.352000	0.07741|0.07741	GAT|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		16	3	2	1		1	1	34		34	34	1	2.060000	-20.000000	1	0.170000				36	36		130	128	1		1	1		1	0	34	0		9.991445e-01	7.061867e-01	0	6	0	10	0	36	130
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075					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)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537																																						ENST00000335016.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(3223-3225)caT>caA		BMP2 inducible kinase							85.0	85.0	85.0					4																	79832926		1986	4175	6161	SO:0001583	missense	55589	0	0					g.chr4:79832926T>A	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.3225T>A	chr4.hg19:g.79832926T>A	ENSP00000334836:p.His1075Gln	0					PAQR3_ENST00000295462.3_Intron	p.H1075Q	NM_198892.1	NP_942595.1	1	2	3	1.998139	Q9NSY1	BMP2K_HUMAN		16	3391	+			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	1	1	hg19	c.3225T>A	CCDS47083.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.759|8.759	0.923117|0.923117	0.18056|0.18056	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|T	.|0.47869	.|0.83	5.41|5.41	1.7|1.7	0.24286|0.24286	5.41|5.41	1.7|1.7	0.24286|0.24286	.|.	.|0.202762	.|0.40469	.|N	.|0.001092	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.55161	.|0.77	T|T	0.53655|0.53655	-0.8408|-0.8408	5|10	.|0.66056	.|D	.|0.02	-14.2633|-14.2633	7.5944|7.5944	0.28039|0.28039	0.0:0.3899:0.0:0.6101|0.0:0.3899:0.0:0.6101	.|.	.|1075	.|Q9NSY1	.|BMP2K_HUMAN	I|Q	768|1075	.|ENSP00000334836:H1075Q	.|ENSP00000334836:H1075Q	F|H	+|+	1|3	0|2	0|2	BMP2K|BMP2K	80051950|80051950	80051950|80051950	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.008000|0.008000	0.06430|0.06430	1.194000|1.194000	0.32174|0.32174	0.357000|0.357000	0.24183|0.24183	0.397000|0.397000	0.26171|0.26171	TTC|CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-20.000000	1	0.170000	NM_017593			104	100		377	370	1		1	1		0	0	117	0		1	9.999840e-01	0	7	0	53	0	104	377
GK2	2712	broad.mit.edu	37	4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0	Substrate binding.				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)			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						CCTCCATTAACTCCTCCTGTC	0.398																																						ENST00000358842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(568-570)Gtt>Att		glycerol kinase 2							109.0	105.0	106.0					4																	80328787		2203	4300	6503	SO:0001583	missense	2712	0	0					g.chr4:80328787C>T	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.568G>A	chr4.hg19:g.80328787C>T	ENSP00000351706:p.Val190Ile	0						p.V190I	NM_033214.2	NP_149991.2	1	2	3	1.998139	Q01415	GALK2_HUMAN		1	585	-			Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	1	1	hg19	c.568G>A	CCDS3585.1	1	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800609	0.02841	.	.	ENSG00000196475	ENST00000358842	T	0.57907	0.37	3.76	2.92	0.33932	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.464515	0.22498	N	0.059269	T	0.36358	0.0964	L	0.38649	1.16	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.12682	-1.0538	10	0.24483	T	0.36	-16.8897	5.7773	0.18287	0.0:0.766:0.0:0.2339	.	190	Q14410	GLPK2_HUMAN	I	190	ENSP00000351706:V190I	ENSP00000351706:V190I	V	-	1	0	0	GK2	80547811	80547811	0.081000	0.21417	0.539000	0.28077	0.083000	0.17756	1.572000	0.36461	1.185000	0.42971	0.585000	0.79938	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	1	0	0		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_033214			80	78		423	417	1		1			0	0	120	0		1	0	0	0	0	0	0	80	423
GK2	2712	broad.mit.edu	37	4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		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)			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						TCCCACCAACGGCCCCACAGC	0.572																																						ENST00000358842.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999676	0.990000	1.000000																										0				39						c.(31-33)cCg>cTg		glycerol kinase 2							31.0	32.0	32.0					4																	80329323		2203	4300	6503	SO:0001583	missense	2712	1	121410	27				g.chr4:80329323G>A	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.32C>T	chr4.hg19:g.80329323G>A	ENSP00000351706:p.Pro11Leu	0						p.P11L	NM_033214.2	NP_149991.2	1	2	3	1.998139	Q01415	GALK2_HUMAN		1	49	-			Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	1	1	hg19	c.32C>T	CCDS3585.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645546	0.29246	.	.	ENSG00000196475	ENST00000358842	T	0.14640	2.49	3.74	2.89	0.33648	3.74	2.89	0.33648	.	0.183018	0.48286	D	0.000186	T	0.19046	0.0457	L	0.56280	1.765	0.80722	D	1	D	0.58970	0.984	P	0.50109	0.631	T	0.01440	-1.1354	10	0.66056	D	0.02	-6.7856	9.5498	0.39304	0.1063:0.0:0.8937:0.0	.	11	Q14410	GLPK2_HUMAN	L	11	ENSP00000351706:P11L	ENSP00000351706:P11L	P	-	2	0	0	GK2	80548347	80548347	1.000000	0.71417	0.904000	0.35570	0.600000	0.36913	5.242000	0.65389	1.160000	0.42584	0.460000	0.39030	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_033214			30	29		191	188	0		1			0	0	36	0		1	0	0	0	0	0	0	30	191
PRDM8	56978	broad.mit.edu	37	4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000504452.1	+	8	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	253	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000504452.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				10						c.(757-759)aGc>aTc		PR domain containing 8							19.0	26.0	24.0					4																	81123374		1583	3656	5239	SO:0001583	missense	56978	0	0					g.chr4:81123374G>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.758G>T	chr4.hg19:g.81123374G>T	ENSP00000423985:p.Ser253Ile	0		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I	p.S253I			1	2	3	1.998139	Q9NQV8	PRDM8_HUMAN		8	1597	+			A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	1	1	hg19	c.758G>T	CCDS43243.1	1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464675	0.12402	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65178	-0.14;0.43;-0.14;-0.14	4.52	0.658	0.17855	4.52	0.658	0.17855	.	0.584987	0.17590	U	0.168790	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.14023	0.01	T	0.19516	-1.0303	10	0.56958	D	0.05	.	4.8306	0.13437	0.1974:0.3288:0.4738:0.0	.	253	Q9NQV8	PRDM8_HUMAN	I	253	ENSP00000423985:S253I;ENSP00000425149:S253I;ENSP00000339764:S253I;ENSP00000406998:S253I	ENSP00000339764:S253I	S	+	2	0	0	PRDM8	81342398	81342398	0.124000	0.22315	0.000000	0.03702	0.187000	0.23431	0.082000	0.14847	-0.089000	0.12484	0.313000	0.20887	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000				52	49		306	292	0		1	1		0	0	71	0		1	5.865874e-01	0	3	0	10	0	52	306
C4orf22	255119	broad.mit.edu	37	4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	rs150179610	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		13718	0.001		0.001	False		,,,				2504	0.0					ENST00000358105.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(316-318)cGc>cAc		chromosome 4 open reading frame 22							73.0	71.0	72.0					4																	81504321		2203	4300	6503	SO:0001583	missense	255119	2	121408	36				g.chr4:81504321G>A	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.317G>A	chr4.hg19:g.81504321G>A	ENSP00000350818:p.Arg106His	0					C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	p.R106H	NM_152770.2	NP_689983.2	1	2	3	1.998139	Q6V702	CD022_HUMAN		3	366	+			E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	1	1	hg19	c.317G>A	CCDS3587.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.08	3.021501	0.54576	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.55	3.77	0.43336	5.55	3.77	0.43336	.	0.207143	0.40222	N	0.001144	T	0.63757	0.2538	M	0.91818	3.245	0.37468	D	0.915485	D;D	0.89917	1.0;1.0	D;D	0.75484	0.981;0.986	T	0.71104	-0.4689	10	0.62326	D	0.03	.	9.1071	0.36705	0.077:0.0:0.7644:0.1587	.	106;106	E7EQ13;Q6V702	.;CD022_HUMAN	H	106	ENSP00000350818:R106H;ENSP00000425786:R106H	ENSP00000350818:R106H	R	+	2	0	0	C4orf22	81723345	81723345	1.000000	0.71417	0.627000	0.29227	0.259000	0.26198	3.675000	0.54605	0.837000	0.34925	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.372185	1	0.170000	NM_152770			52	52		251	246	1		1	0		0	0	64	0		1	0	0	0	0	1	0	52	251
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					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)			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						CCTTGGCCATCTGTCAGTGGA	0.438																																						ENST00000282701.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(547-549)Ctg>Atg		bone morphogenetic protein 3							156.0	156.0	156.0					4																	81967122		2203	4300	6503	SO:0001583	missense	651	0	0					g.chr4:81967122C>A	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.547C>A	chr4.hg19:g.81967122C>A	ENSP00000282701:p.Leu183Met	0						p.L183M	NM_001201.2	NP_001192.2	1	2	3	1.998139	P12645	BMP3_HUMAN		2	867	+			Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	1	1	hg19	c.547C>A	CCDS3588.1	1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458660	0.26248	.	.	ENSG00000152785	ENST00000282701	T	0.64438	-0.1	4.84	2.98	0.34508	4.84	2.98	0.34508	Transforming growth factor-beta, N-terminal (1);	0.162830	0.56097	D	0.000038	T	0.65270	0.2675	M	0.70275	2.135	0.28301	N	0.923107	D	0.60575	0.988	P	0.55923	0.787	T	0.59473	-0.7448	10	0.40728	T	0.16	.	2.6952	0.05133	0.2072:0.4839:0.0:0.3089	.	183	P12645	BMP3_HUMAN	M	183	ENSP00000282701:L183M	ENSP00000282701:L183M	L	+	1	2	2	BMP3	82186146	82186146	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	3.579000	0.53900	1.412000	0.46977	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	1	0	0		2	2	2	0		0	0	165		165	164	1	2.060000	-20.000000	1	0.170000				138	137		741	730	1		1			0	0	165	0		1	0	0	0	0	0	0	138	741
BMP3	651	broad.mit.edu	37	4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	196					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)			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						AGATATTATGTCCTGGCTGTC	0.443																																						ENST00000282701.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(586-588)Tcc>Acc		bone morphogenetic protein 3							134.0	143.0	140.0					4																	81967161		2203	4300	6503	SO:0001583	missense	651	0	0					g.chr4:81967161T>A	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.586T>A	chr4.hg19:g.81967161T>A	ENSP00000282701:p.Ser196Thr	0						p.S196T	NM_001201.2	NP_001192.2	1	2	3	1.998139	P12645	BMP3_HUMAN		2	906	+			Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	1	1	hg19	c.586T>A	CCDS3588.1	1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663966	0.03428	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	5.08	-2.37	0.06643	5.08	-2.37	0.06643	Transforming growth factor-beta, N-terminal (1);	0.315470	0.40064	N	0.001194	T	0.45657	0.1353	M	0.66939	2.045	0.27087	N	0.962947	B	0.11235	0.004	B	0.12156	0.007	T	0.20438	-1.0275	10	0.13470	T	0.59	.	1.5263	0.02526	0.1518:0.1349:0.2093:0.504	.	196	P12645	BMP3_HUMAN	T	196	ENSP00000282701:S196T	ENSP00000282701:S196T	S	+	1	0	0	BMP3	82186185	82186185	0.197000	0.23362	0.056000	0.19401	0.024000	0.10985	0.753000	0.26376	-0.129000	0.11620	-0.313000	0.08912	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	1	0	0		2	2	2	0		0	0	169		169	168	1	2.060000	-20.000000	1	0.170000				152	151		736	722	1		1			0	0	169	0		1	0	0	0	0	0	0	152	736
BMP3	651	broad.mit.edu	37	4	81974600	81974600	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81974600C>A	ENST00000282701.2	+	3	1649	c.1329C>A	c.(1327-1329)tcC>tcA	p.S443S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	443					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)			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						AAAAGATGTCCTCACTCAGTA	0.428																																						ENST00000282701.2	1.000000	0.160000	3.600000e-01	2.100000e-01	0.270000	0.320159	0.270000	0.270000																										0				29						c.(1327-1329)tcC>tcA		bone morphogenetic protein 3							149.0	156.0	153.0					4																	81974600		2203	4300	6503	SO:0001819	synonymous_variant	651	0	0					g.chr4:81974600C>A	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.1329C>A	chr4.hg19:g.81974600C>A		0						p.S443S	NM_001201.2	NP_001192.2	1	2	3	1.998139	P12645	BMP3_HUMAN		3	1649	+			Q4VAS5	Silent	SNP	ENST00000282701.2	0	1	hg19	c.1329C>A	CCDS3588.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	0	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-2.229127	0	0.170000				17	15		737	728	0		1	0		0	0	130	0		9.999601e-01	0	0	0	0	1	0	17	737
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392					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.G392C(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378																																						ENST00000395578.1	1.000000	0.340000	6.900000e-01	4.300000e-01	0.540000	0.574643	0.540000	0.520000																										2	Substitution - Missense(2)	p.G392C(2)	lung(2)	37						c.(1174-1176)Ggt>Agt		protein kinase, cGMP-dependent, type II							146.0	136.0	139.0					4																	82065465		2203	4300	6503	SO:0001583	missense	5593	0	0					g.chr4:82065465C>T	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.1174G>A	chr4.hg19:g.82065465C>T	ENSP00000378945:p.Gly392Ser	0					PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000545647.1_5'UTR	p.G392S			1	2	3	1.998139	Q13237	KGP2_HUMAN		10	1290	-			B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	1	1	hg19	c.1174G>A	CCDS3589.1	0	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711059	0.68730	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92495	-3.05;-3.05;-3.05	5.31	5.31	0.75309	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.67900	0.924;0.954	D	0.94558	0.7760	10	0.44086	T	0.13	-25.4218	18.9359	0.92584	0.0:1.0:0.0:0.0	.	392;392	E7EPE6;Q13237	.;KGP2_HUMAN	S	392	ENSP00000378945:G392S;ENSP00000264399:G392S;ENSP00000389038:G392S	ENSP00000264399:G392S	G	-	1	0	0	PRKG2	82284489	82284489	1.000000	0.71417	0.962000	0.40283	0.516000	0.34256	7.010000	0.76353	2.640000	0.89533	0.655000	0.94253	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.224045	0	0.170000	NM_006259			21	20		446	438	0		1	0		0	0	96	0		9.999971e-01	6.652602e-03	0	0	0	3	0	21	446
TMEM150C	441027	broad.mit.edu	37	4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000515780.2	-	7	712	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C	170						integral component of membrane (GO:0016021)				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453																																						ENST00000515780.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(508-510)Ctg>Atg		transmembrane protein 150C							193.0	196.0	195.0					4																	83411247		1916	4138	6054	SO:0001583	missense	441027	0	0					g.chr4:83411247G>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.508C>A	chr4.hg19:g.83411247G>T	ENSP00000420919:p.Leu170Met	0					TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR	p.L170M			1	2	3	1.998139	B9EJG8	T150C_HUMAN		7	712	-			B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	1	1	hg19	c.508C>A	CCDS47087.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095722	0.36952	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.53857	0.6;0.6	5.62	4.77	0.60923	5.62	4.77	0.60923	.	.	.	.	.	T	0.69459	0.3113	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71144	-0.4678	9	0.56958	D	0.05	-5.2962	8.4395	0.32808	0.292:0.0:0.708:0.0	.	170	B9EJG8	T150C_HUMAN	M	170	ENSP00000403438:L170M;ENSP00000420919:L170M	ENSP00000403438:L170M	L	-	1	2	2	TMEM150C	83630271	83630271	1.000000	0.71417	0.841000	0.33234	0.108000	0.19459	2.295000	0.43576	1.337000	0.45525	0.462000	0.41574	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-3.482735	1	0.170000	NM_001080506			82	82		350	346	1		1	0		0	0	106	0		1	8.347385e-01	0	0	0	16	0	82	350
SEC31A	22872	broad.mit.edu	37	4	83742226	83742226	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000395310.2	-	26	3629	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000264405.5_Silent_p.R898R	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)	1149					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)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338																																						ENST00000395310.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SEC31A/ALK(3)|SEC31A/JAK2(4)	0				1						c.(3445-3447)cgT>cgC		SEC31 homolog A (S. cerevisiae)							203.0	213.0	209.0					4																	83742226		2203	4300	6503	SO:0001819	synonymous_variant	22872	0	0					g.chr4:83742226A>G	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.3447T>C	chr4.hg19:g.83742226A>G		0					SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000355196.2_Silent_p.R1149R	p.R1149R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	1	2	3	1.998139	O94979	SC31A_HUMAN		26	3629	-		Hepatocellular(203;0.114)	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	1	1	hg19	c.3447T>C	CCDS3596.1	1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270299	0.23221	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-1.08	0.09936	5.62	-1.08	0.09936	.	.	.	.	.	T	0.65595	0.2706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-11.6076	13.9446	0.64077	0.1817:0.0:0.8183:0.0	.	.	.	.	A	312	.	.	V	-	2	0	0	SEC31A	83961250	83961250	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	0.290000	0.18975	-0.129000	0.11620	-0.250000	0.11733	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	1		2	2	2	0		0	0	172		172	170	1	2.060000	-20.000000	1	0.170000	NM_016211			126	125		721	706	1		1	1		0	0	172	0		1	1	0	121	0	690	0	126	721
SEC31A	22872	broad.mit.edu	37	4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000395310.2	-	12	1662	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*	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)	494					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)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308																																						ENST00000395310.2	1.000000	0.610000	1	7.900000e-01	0.990000	0.922042	0.990000	1.000000																									SEC31A/ALK(3)|SEC31A/JAK2(4)	0				1						c.(1480-1482)Gga>Tga		SEC31 homolog A (S. cerevisiae)							98.0	101.0	100.0					4																	83784500		2202	4296	6498	SO:0001587	stop_gained	22872	0	0					g.chr4:83784500C>A	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.1480G>T	chr4.hg19:g.83784500C>A	ENSP00000378721:p.Gly494*	0					SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*	p.G494*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	1	2	3	1.998139	O94979	SC31A_HUMAN		12	1662	-		Hepatocellular(203;0.114)	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	0	1	hg19	c.1480G>T	CCDS3596.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.624468|7.624468	0.98396|0.98396	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.104337|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74999	.|-0.3472	.|3	0.87932|.	D|.	0|.	-3.3031|-3.3031	19.4671|19.4671	0.94946|0.94946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	494;494;494;489;494;494;494;494;494;494;494;494;494;266;494;494;95|136;47	.|.	ENSP00000264405:G266X|.	G|R	-|-	1|2	0|0	0|0	SEC31A|SEC31A	84003524|84003524	84003524|84003524	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.614000|2.614000	0.88457|0.88457	0.467000|0.467000	0.42956|0.42956	GGA|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.075693	1	0.170000	NM_016211			17	17		186	182	0		1	1		0	0	66	0		9.999652e-01	1	0	5	0	441	0	17	186
SEC31A	22872	broad.mit.edu	37	4	83793159	83793159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000395310.2	-	7	902	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Silent_p.V240V	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)	240	Interaction with SEC13.				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)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468																																						ENST00000395310.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SEC31A/ALK(3)|SEC31A/JAK2(4)	0				1						c.(718-720)gtG>gtA		SEC31 homolog A (S. cerevisiae)							123.0	94.0	104.0					4																	83793159		2203	4300	6503	SO:0001819	synonymous_variant	22872	0	0					g.chr4:83793159C>T	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.720G>A	chr4.hg19:g.83793159C>T		0					SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V	p.V240V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	1	2	3	1.998139	O94979	SC31A_HUMAN		7	902	-		Hepatocellular(203;0.114)	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	1	1	hg19	c.720G>A	CCDS3596.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_016211			59	59		202	200	1		1	1		0	0	45	0		1	1	0	64	0	325	0	59	202
SEC31A	22872	broad.mit.edu	37	4	83793168	83793168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000395310.2	-	7	893	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Silent_p.R237R	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)	237	Interaction with SEC13.				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)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473																																						ENST00000395310.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SEC31A/ALK(3)|SEC31A/JAK2(4)	0				1						c.(709-711)cgG>cgA		SEC31 homolog A (S. cerevisiae)							123.0	95.0	104.0					4																	83793168		2203	4300	6503	SO:0001819	synonymous_variant	22872	0	0					g.chr4:83793168C>T	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.711G>A	chr4.hg19:g.83793168C>T		0					SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R	p.R237R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	1	2	3	1.998139	O94979	SC31A_HUMAN		7	893	-		Hepatocellular(203;0.114)	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	1	1	hg19	c.711G>A	CCDS3596.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	0		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_016211			50	50		207	205	1		1	1		0	0	44	0		1	1	0	89	0	323	0	50	207
THAP9	79725	broad.mit.edu	37	4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000512932.1_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000511271.1_RNA|THAP9-AS1_ENST00000504869.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000504792.2_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	23					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)			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)				GGAGCGCGGCCTCTCCTTCCA	0.711																																						ENST00000302236.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(67-69)Ctc>Atc		THAP domain containing 9							36.0	41.0	39.0					4																	83822022		2202	4299	6501	SO:0001583	missense	79725	0	0					g.chr4:83822022C>A	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.67C>A	chr4.hg19:g.83822022C>A	ENSP00000305533:p.Leu23Ile	0					THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000504869.1_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000511271.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|THAP9-AS1_ENST00000512932.1_RNA	p.L23I	NM_024672.4	NP_078948.3	1	2	3	1.998139	Q9H5L6	THAP9_HUMAN		1	118	+		Hepatocellular(203;0.114)	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	1	1	hg19	c.67C>A	CCDS3598.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172757	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96011	-3.88	4.53	3.62	0.41486	4.53	3.62	0.41486	Zinc finger, C2CH-type (3);	0.416196	0.17817	N	0.160983	D	0.84142	0.5407	N	0.02403	-0.565	0.23876	N	0.996598	P	0.38711	0.643	B	0.38378	0.272	T	0.78091	-0.2339	10	0.10377	T	0.69	-0.0427	7.6213	0.28187	0.0:0.8739:0.0:0.1261	.	23	Q9H5L6	THAP9_HUMAN	I	23	ENSP00000305533:L23I	ENSP00000305533:L23I	L	+	1	0	0	THAP9	84041046	84041046	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.418000	0.21230	1.378000	0.46305	0.467000	0.42956	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_024672			75	73		355	348	0		1	1		0	0	60	0		1	7.284394e-01	0	6	0	8	0	75	355
THAP9	79725	broad.mit.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525					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.N525K(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)				ATAGTAGGAACTGTTATGGAA	0.338																																						ENST00000302236.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.N525K(1)	kidney(1)	33						c.(1573-1575)aaC>aaA		THAP domain containing 9							106.0	111.0	109.0					4																	83838940		2203	4300	6503	SO:0001583	missense	79725	0	0					g.chr4:83838940C>A	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.1575C>A	chr4.hg19:g.83838940C>A	ENSP00000305533:p.Asn525Lys	0					LIN54_ENST00000505905.1_Intron	p.N525K	NM_024672.4	NP_078948.3	1	2	3	1.998139	Q9H5L6	THAP9_HUMAN		5	1626	+		Hepatocellular(203;0.114)	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	1	1	hg19	c.1575C>A	CCDS3598.1	1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616179	0.14129	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	2	THAP9	84057964	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_024672			108	104		520	511	1		1	0		0	0	117	0		1	2.781812e-01	0	1	0	5	0	108	520
LIN54	132660	broad.mit.edu	37	4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	412					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)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343																																						ENST00000340417.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1234-1236)Gtc>Atc		lin-54 DREAM MuvB core complex component							130.0	139.0	136.0					4																	83861050		2203	4300	6503	SO:0001583	missense	132660	0	0					g.chr4:83861050C>T	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.1234G>A	chr4.hg19:g.83861050C>T	ENSP00000341947:p.Val412Ile	0					LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I	p.V412I	NM_194282.2	NP_919258.2	1	2	3	1.998139	Q6MZP7	LIN54_HUMAN		6	1611	-		Hepatocellular(203;0.114)	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	1	1	hg19	c.1234G>A	CCDS3599.1	1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023735	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.130770	0.56097	D	0.000021	T	0.40743	0.1129	N	0.08118	0	0.80722	D	1	B;B;B	0.29862	0.023;0.012;0.259	B;B;B	0.22386	0.012;0.004;0.039	T	0.25502	-1.0130	9	0.35671	T	0.21	-13.0846	20.6721	0.99693	0.0:1.0:0.0:0.0	.	323;284;412	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	I	412;323;191;191;191;323;412	.	ENSP00000341947:V412I	V	-	1	0	0	LIN54	84080074	84080074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.576000	0.60915	2.894000	0.99253	0.591000	0.81541	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_194282			143	140		553	547	1		1	1		0	0	120	0		1	9.934718e-01	0	4	0	28	0	143	553
FAM175A	84142	broad.mit.edu	37	4	84390190	84390190	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.T148T|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	197					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363																																						ENST00000321945.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(589-591)acA>acG		family with sequence similarity 175, member A							117.0	122.0	120.0					4																	84390190		2203	4300	6503	SO:0001819	synonymous_variant	84142	0	0					g.chr4:84390190T>C	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.591A>G	chr4.hg19:g.84390190T>C		0					FAM175A_ENST00000506553.1_Silent_p.T148T|FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron	p.T197T	NM_139076.2	NP_620775.2	1	2	3	1.998139	Q6UWZ7	F175A_HUMAN		6	699	-			A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	1	1	hg19	c.591A>G	CCDS3605.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	0		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_139076			131	130		473	465	1		1	1		0	0	124	0		1	9.989442e-01	0	9	0	30	0	131	473
FAM175A	84142	broad.mit.edu	37	4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	188					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363																																						ENST00000321945.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(562-564)tCc>tTc		family with sequence similarity 175, member A							124.0	131.0	128.0					4																	84390218		2203	4300	6503	SO:0001583	missense	84142	0	0					g.chr4:84390218G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.563C>T	chr4.hg19:g.84390218G>A	ENSP00000369857:p.Ser188Phe	0					FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron	p.S188F	NM_139076.2	NP_620775.2	1	2	3	1.998139	Q6UWZ7	F175A_HUMAN		6	671	-			A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	1	1	hg19	c.563C>T	CCDS3605.2	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663703	0.67700	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.45668	0.89;0.89	5.38	4.51	0.55191	5.38	4.51	0.55191	.	0.050360	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68349	-0.5432	10	0.87932	D	0	-13.6146	16.1534	0.81640	0.0:0.1331:0.8669:0.0	.	188	Q6UWZ7	F175A_HUMAN	F	188;139	ENSP00000369857:S188F;ENSP00000426763:S139F	ENSP00000369857:S188F	S	-	2	0	0	FAM175A	84609242	84609242	1.000000	0.71417	0.056000	0.19401	0.841000	0.47740	7.142000	0.77339	2.518000	0.84900	0.555000	0.69702	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	0		2	2	2	0		0	0	130		130	129	1	2.060000	-20.000000	1	0.170000	NM_139076			141	139		524	516	1		1	1		0	0	130	0		1	9.989600e-01	0	4	0	36	0	141	524
FAM175A	84142	broad.mit.edu	37	4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	148					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348																																						ENST00000321945.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(442-444)Cga>Tga		family with sequence similarity 175, member A							78.0	82.0	81.0					4																	84391390		2203	4300	6503	SO:0001587	stop_gained	84142	0	0					g.chr4:84391390G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.442C>T	chr4.hg19:g.84391390G>A	ENSP00000369857:p.Arg148*	0					FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	p.R148*	NM_139076.2	NP_620775.2	1	2	3	1.998139	Q6UWZ7	F175A_HUMAN		5	550	-			A5JJ07|Q9H8I1|Q9H9N4	Nonsense_Mutation	SNP	ENST00000321945.7	0	1	hg19	c.442C>T	CCDS3605.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.046630	0.97231	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	2.86	0.33363	5.9	2.86	0.33363	.	0.168866	0.49916	D	0.000136	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2989	9.8395	0.40991	0.0788:0.0:0.6061:0.315	.	.	.	.	X	148;99;99	.	ENSP00000369857:R148X	R	-	1	2	2	FAM175A	84610414	84610414	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.988000	0.40697	0.777000	0.33496	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_139076			105	100		393	388	1		1	0		0	0	99	0		1	9.849349e-01	0	0	0	27	0	105	393
WDFY3	23001	broad.mit.edu	37	4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000295888.4	-	65	10540	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			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)		TTTCAATCTGCTGTAATTCCG	0.517																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(10132-10134)aGc>aAc		WD repeat and FYVE domain containing 3							68.0	76.0	73.0					4																	85600086		2203	4300	6503	SO:0001583	missense	23001	3	121410	36				g.chr4:85600086C>T	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.10133G>A	chr4.hg19:g.85600086C>T	ENSP00000295888:p.Ser3378Asn	0					WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	p.S3378N	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		65	10540	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	1	1	hg19	c.10133G>A	CCDS3609.1	1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548834	0.13312	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	4.81	3.88	0.44766	4.81	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.325080	0.40554	N	0.001078	T	0.27169	0.0666	N	0.01048	-1.04	0.37895	D	0.930854	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.10902	T	0.67	.	9.9806	0.41811	0.0:0.8333:0.0:0.1667	.	3378	Q8IZQ1	WDFY3_HUMAN	N	3361;3378	ENSP00000318466:S3361N;ENSP00000295888:S3378N	ENSP00000295888:S3378N	S	-	2	0	0	WDFY3	85819110	85819110	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.453000	0.35167	2.483000	0.83821	0.650000	0.86243	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_014991			92	91		483	474	1		1	1		0	0	83	0		1	9.992079e-01	0	13	0	44	0	92	483
WDFY3	23001	broad.mit.edu	37	4	85605150	85605150	+	Silent	SNP	G	G	A	rs372610350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000295888.4	-	63	10079	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_ENST00000322366.6_Silent_p.N3207N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3224	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			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)		TGTCCCATTCGTTCATCTCCG	0.478																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(9670-9672)aaC>aaT		WD repeat and FYVE domain containing 3		G		0,4406		0,0,2203	142.0	121.0	128.0		9672	-1.6	1.0	4		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3224/3527	85605150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23001	7	121412	40				g.chr4:85605150G>A	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.9672C>T	chr4.hg19:g.85605150G>A		0					WDFY3_ENST00000322366.6_Silent_p.N3207N	p.N3224N	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		63	10079	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	1	1	hg19	c.9672C>T	CCDS3609.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.710512	1	0.170000	NM_014991			72	72		281	278	1		1	1		0	0	63	0		1	9.999852e-01	0	11	0	55	0	72	281
WDFY3	23001	broad.mit.edu	37	4	85617954	85617954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000295888.4	-	57	9026	c.8619G>A	c.(8617-8619)aaG>aaA	p.K2873K	WDFY3_ENST00000322366.6_Silent_p.K2856K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2873	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			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)		CATCTCCAAGCTTGGTGCCAT	0.368																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				134						c.(8617-8619)aaG>aaA		WD repeat and FYVE domain containing 3							118.0	112.0	114.0					4																	85617954		2203	4300	6503	SO:0001819	synonymous_variant	23001	0	0					g.chr4:85617954C>T	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.8619G>A	chr4.hg19:g.85617954C>T		0					WDFY3_ENST00000322366.6_Silent_p.K2856K	p.K2873K	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		57	9026	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	1	1	hg19	c.8619G>A	CCDS3609.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_014991			50	48		277	274	1		1	1		0	0	58	0		1	9.993287e-01	0	12	0	51	0	50	277
WDFY3	23001	broad.mit.edu	37	4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000295888.4	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1148					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)			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)		AATCAGAGATCGGTCTTTTGC	0.368																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				134						c.(3442-3444)cGa>cAa		WD repeat and FYVE domain containing 3							147.0	150.0	149.0					4																	85715716		2203	4300	6503	SO:0001583	missense	23001	1	121412	40				g.chr4:85715716C>T	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.3443G>A	chr4.hg19:g.85715716C>T	ENSP00000295888:p.Arg1148Gln	0					WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	p.R1148Q	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		21	3850	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	1	1	hg19	c.3443G>A	CCDS3609.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152751	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.47177	0.85;0.85	5.16	5.16	0.70880	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.059441	0.64402	D	0.000002	T	0.38612	0.1047	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.34138	0.176	T	0.39502	-0.9611	10	0.45353	T	0.12	.	12.3958	0.55384	0.0:0.9226:0.0:0.0774	.	1148	Q8IZQ1	WDFY3_HUMAN	Q	1148	ENSP00000318466:R1148Q;ENSP00000295888:R1148Q	ENSP00000295888:R1148Q	R	-	2	0	0	WDFY3	85934740	85934740	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	5.538000	0.67193	2.563000	0.86464	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_014991			99	98		700	691	1		1	1		0	0	120	0		1	9.714689e-01	0	6	0	36	0	99	700
WDFY3	23001	broad.mit.edu	37	4	85750255	85750255	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000295888.4	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000322366.6_Silent_p.L286L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	286					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)			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)		GGAAACAAGAAAGCCCAGCAA	0.388																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(856-858)ctT>ctG		WD repeat and FYVE domain containing 3							96.0	100.0	99.0					4																	85750255		2203	4300	6503	SO:0001819	synonymous_variant	23001	0	0					g.chr4:85750255A>C	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.858T>G	chr4.hg19:g.85750255A>C		0					WDFY3_ENST00000322366.6_Silent_p.L286L	p.L286L	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		9	1265	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	1	1	hg19	c.858T>G	CCDS3609.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	0		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_014991			79	79		372	369	1		1	1		0	0	60	0		1	8.862149e-01	0	3	0	17	0	79	372
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V280V(1)	large_intestine(1)	134						c.(838-840)gtC>gtT		WD repeat and FYVE domain containing 3							87.0	92.0	90.0					4																	85750273		2203	4300	6503	SO:0001819	synonymous_variant	23001	2	121412	36				g.chr4:85750273G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.840C>T	chr4.hg19:g.85750273G>A		0					WDFY3_ENST00000322366.6_Silent_p.V280V	p.V280V	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		9	1247	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	1	1	hg19	c.840C>T	CCDS3609.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	0		2	2	2	0		0	0	65		65	65	1	2.060000	-3.427077	1	0.170000	NM_014991			81	80		358	351	1		1	1		0	0	65	0		1	9.736052e-01	0	5	0	23	0	81	358
WDFY3	23001	broad.mit.edu	37	4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000295888.4	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	175					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)			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)		GGTAGCTCATTCTGTGCACCT	0.453																																						ENST00000295888.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				134						c.(523-525)Aat>Cat		WD repeat and FYVE domain containing 3							101.0	86.0	91.0					4																	85758135		2203	4300	6503	SO:0001583	missense	23001	0	0					g.chr4:85758135T>G	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.523A>C	chr4.hg19:g.85758135T>G	ENSP00000295888:p.Asn175His	0					WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	p.N175H	NM_014991.4	NP_055806.2	1	2	3	1.998139	Q8IZQ1	WDFY3_HUMAN		7	930	-		Hepatocellular(203;0.114)	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	1	1	hg19	c.523A>C	CCDS3609.1	1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249306	0.59103	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.196716	0.53938	D	0.000047	T	0.43255	0.1239	N	0.08118	0	0.50467	D	0.999871	P;P	0.40107	0.703;0.571	B;B	0.35607	0.206;0.206	T	0.51942	-0.8641	10	0.51188	T	0.08	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	175;175	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	175	ENSP00000318466:N175H;ENSP00000295888:N175H	ENSP00000295888:N175H	N	-	1	0	0	WDFY3	85977159	85977159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.190000	0.69967	0.374000	0.22700	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_014991			48	46		223	221	1		1	1		0	0	60	0		1	8.281489e-01	0	3	0	14	0	48	223
ARHGAP24	83478	broad.mit.edu	37	4	86491742	86491742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	16					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)			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)		AAGGCCAAGGGCGGCAGAATG	0.483																																						ENST00000395184.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(46-48)ggG>ggA		Rho GTPase activating protein 24							88.0	75.0	79.0					4																	86491742		2203	4300	6503	SO:0001819	synonymous_variant	83478	0	0					g.chr4:86491742G>A	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.48G>A	chr4.hg19:g.86491742G>A		0					ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	p.G16G	NM_001025616.2	NP_001020787.2	1	2	3	1.998139	Q8N264	RHG24_HUMAN		2	514	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	1	1	hg19	c.48G>A	CCDS34025.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_031305			48	47		205	203	1		1	0		0	0	60	0		1	7.374271e-01	0	0	0	13	0	48	205
ARHGAP24	83478	broad.mit.edu	37	4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	156	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)			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)		CCGATGTTGGTGGAGCAGTGC	0.473																																						ENST00000395184.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(466-468)gTg>gCg		Rho GTPase activating protein 24							87.0	85.0	86.0					4																	86863294		2203	4300	6503	SO:0001583	missense	83478	0	0					g.chr4:86863294T>C	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.467T>C	chr4.hg19:g.86863294T>C	ENSP00000378611:p.Val156Ala	0					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	p.V156A	NM_001025616.2	NP_001020787.2	1	2	3	1.998139	Q8N264	RHG24_HUMAN		5	933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	1	1	hg19	c.467T>C	CCDS34025.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.205174	0.95033	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.52295	1.77;1.77;0.67;1.77;1.77;1.77;1.77	5.98	5.98	0.97165	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.999	D	0.84349	0.0531	10	0.72032	D	0.01	.	16.4731	0.84124	0.0:0.0:0.0:1.0	.	61;63;156;156	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	A	156;156;61;61;30;71;63	ENSP00000378611:V156A;ENSP00000423206:V156A;ENSP00000426105:V61A;ENSP00000378610:V61A;ENSP00000424256:V30A;ENSP00000425589:V71A;ENSP00000264343:V63A	ENSP00000264343:V63A	V	+	2	0	0	ARHGAP24	87082318	87082318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.293000	0.77203	0.528000	0.53228	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_031305			48	48		218	215	1		1	1		0	0	54	0		1	9.895560e-01	0	3	0	32	0	48	218
ARHGAP24	83478	broad.mit.edu	37	4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*|ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					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.R406*(1)|p.R499*(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)		CACAAATGTTCGAAACATGAG	0.507																																						ENST00000395184.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R406*(1)|p.R499*(1)	endometrium(2)	24						c.(1495-1497)Cga>Tga		Rho GTPase activating protein 24							119.0	111.0	113.0					4																	86916302		2203	4300	6503	SO:0001587	stop_gained	83478	0	0					g.chr4:86916302C>T	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.1495C>T	chr4.hg19:g.86916302C>T	ENSP00000378611:p.Arg499*	0					ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	p.R499*	NM_001025616.2	NP_001020787.2	1	2	3	1.998139	Q8N264	RHG24_HUMAN		9	1961	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Nonsense_Mutation	SNP	ENST00000395184.1	0	1	hg19	c.1495C>T	CCDS34025.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.547352	0.98352	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	.	.	.	5.87	4.01	0.46588	5.87	4.01	0.46588	.	0.171377	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6745	0.68969	0.2643:0.7357:0.0:0.0	.	.	.	.	X	499;404;414;406	.	ENSP00000264343:R406X	R	+	1	2	2	ARHGAP24	87135326	87135326	0.634000	0.27190	0.237000	0.24090	0.097000	0.18754	1.293000	0.33353	1.443000	0.47586	0.591000	0.81541	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_031305			86	84		359	351	1		1	0		0	0	101	0		1	9.998228e-01	0	0	0	55	0	86	359
PTPN13	5783	broad.mit.edu	37	4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000411767.2	+	7	797	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	245					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)			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)		GGATTTCTGTCCATCAAAGAT	0.368																																						ENST00000411767.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997634	0.990000	1.000000																										0				93						c.(733-735)tCc>tTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							51.0	47.0	49.0					4																	87622493		1821	4080	5901	SO:0001583	missense	5783	0	0					g.chr4:87622493C>T		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.734C>T	chr4.hg19:g.87622493C>T	ENSP00000407249:p.Ser245Phe	0					PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F	p.S245F			1	2	3	1.998139	Q12923	PTN13_HUMAN		7	797	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	1	1	hg19	c.734C>T	CCDS47094.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889809	0.72524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.150735	0.31010	N	0.008434	T	0.55210	0.1906	L	0.57536	1.79	0.38638	D	0.951532	D;D;D;D	0.64830	0.994;0.991;0.984;0.991	P;P;P;P	0.59643	0.832;0.861;0.73;0.861	T	0.58132	-0.7690	10	0.59425	D	0.04	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	245;245;245;245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	245;245;245;245;245;213	ENSP00000408368:S245F;ENSP00000394794:S245F;ENSP00000322675:S245F;ENSP00000407249:S245F;ENSP00000426626:S245F	ENSP00000322675:S245F	S	+	2	0	0	PTPN13	87841517	87841517	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.359000	0.66074	2.617000	0.88574	0.557000	0.71058	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.999990	1	0.170000				15	15		89	88	1		1	1		0	0	26	0		9.999076e-01	8.401030e-01	0	6	0	16	0	15	89
PTPN13	5783	broad.mit.edu	37	4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000411767.2	+	8	1282	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	407					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)			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)		ATACAAAACTTATCATGGTGA	0.323																																						ENST00000411767.2	1.000000	0.650000	1	9.900000e-01	0.990000	0.970762	0.990000	1.000000																										0				93						c.(1219-1221)Tat>Cat		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81.0	75.0	77.0					4																	87637706		1811	4084	5895	SO:0001583	missense	5783	0	0					g.chr4:87637706T>C		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.1219T>C	chr4.hg19:g.87637706T>C	ENSP00000407249:p.Tyr407His	0					PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H	p.Y407H			1	2	3	1.998139	Q12923	PTN13_HUMAN		8	1282	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	0	1	hg19	c.1219T>C	CCDS47094.1	1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429610	0.43122	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.59364	0.27;0.31;0.42;0.28;0.31	5.27	4.09	0.47781	5.27	4.09	0.47781	.	0.165491	0.28510	N	0.015093	T	0.63581	0.2523	M	0.67953	2.075	0.44042	D	0.996777	P;P;P;P	0.49961	0.828;0.915;0.93;0.915	P;P;P;P	0.53360	0.632;0.724;0.665;0.724	T	0.59794	-0.7387	10	0.22109	T	0.4	.	11.166	0.48543	0.0:0.0728:0.0:0.9272	.	407;407;407;407	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	407;407;407;407;407;375	ENSP00000408368:Y407H;ENSP00000394794:Y407H;ENSP00000322675:Y407H;ENSP00000407249:Y407H;ENSP00000426626:Y407H	ENSP00000322675:Y407H	Y	+	1	0	0	PTPN13	87856730	87856730	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.344000	0.65981	0.961000	0.38030	-0.380000	0.06706	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-12.982120	1	0.170000				6	6		40	38	0		1	1		0	0	8	0		9.637393e-01	8.134644e-01	0	5	0	18	0	6	40
PTPN13	5783	broad.mit.edu	37	4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000411767.2	+	18	3121	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1020					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)			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)		AGGAGTGACAAAACTTAATAA	0.348																																						ENST00000411767.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999330	0.990000	1.000000																										0				93						c.(3058-3060)Aaa>Caa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							43.0	42.0	42.0					4																	87672030		1834	4078	5912	SO:0001583	missense	5783	0	0					g.chr4:87672030A>C		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.3058A>C	chr4.hg19:g.87672030A>C	ENSP00000407249:p.Lys1020Gln	0					PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q	p.K1020Q			1	2	3	1.998139	Q12923	PTN13_HUMAN		18	3121	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	1	1	hg19	c.3058A>C	CCDS47094.1	1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523597	0.27299	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52526	0.66;0.71;0.66;0.71	6.16	4.97	0.65823	6.16	4.97	0.65823	.	0.112377	0.39083	N	0.001464	T	0.40222	0.1108	L	0.41236	1.265	0.35504	D	0.800014	B;B;B	0.24618	0.063;0.065;0.107	B;B;B	0.22386	0.039;0.015;0.034	T	0.44802	-0.9304	10	0.37606	T	0.19	.	13.8654	0.63585	0.8731:0.1269:0.0:0.0	.	1020;1020;1020	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	Q	1020;1020;1020;1020;988	ENSP00000408368:K1020Q;ENSP00000394794:K1020Q;ENSP00000407249:K1020Q;ENSP00000426626:K1020Q	ENSP00000349909:K988Q	K	+	1	0	0	PTPN13	87891054	87891054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.163000	0.64948	1.115000	0.41800	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000				17	17		90	88	1		1	1		0	0	25	0		9.999755e-01	9.868455e-01	0	6	0	35	0	17	90
SLC10A6	345274	broad.mit.edu	37	4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	193					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)			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)		CACCTTGAGAATGATTTTGGA	0.473																																						ENST00000273905.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999895	0.990000	1.000000																										0				9						c.(577-579)aTt>aGt		solute carrier family 10 (sodium/bile acid cotransporter), member 6							128.0	98.0	108.0					4																	87752952		2203	4300	6503	SO:0001583	missense	345274	0	0					g.chr4:87752952A>C	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.578T>G	chr4.hg19:g.87752952A>C	ENSP00000273905:p.Ile193Ser	0					SLC10A6_ENST00000505535.1_5'UTR	p.I193S	NM_197965.2	NP_932069.1	1	2	3	1.998139	Q3KNW5	SOAT_HUMAN		3	725	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	1	1	hg19	c.578T>G	CCDS3614.1	1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406940	0.62399	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	T	0.35799	0.0944	M	0.75264	2.295	0.36869	D	0.888834	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.87932	D	0	-18.9054	11.2388	0.48958	1.0:0.0:0.0:0.0	.	193	Q3KNW5	SOAT_HUMAN	S	193	ENSP00000273905:I193S	ENSP00000273905:I193S	I	-	2	0	0	SLC10A6	87971976	87971976	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	6.311000	0.72835	1.958000	0.56883	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_197965			21	21		101	98	1		1	0		0	0	24	0		9.999984e-01	0	0	0	0	1	0	21	101
C4orf36	132989	broad.mit.edu	37	4	87809352	87809352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87809352C>A	ENST00000473559.1	-	6	805	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	48										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GAAATTTCTTCCAAGAAAGGC	0.418																																						ENST00000473559.1	1.000000	0.140000	4.000000e-01	2.000000e-01	0.280000	0.333371	0.280000	0.270000																										0				4						c.(142-144)Gaa>Taa		chromosome 4 open reading frame 36							96.0	94.0	94.0					4																	87809352		2203	4300	6503	SO:0001587	stop_gained	132989	0	0					g.chr4:87809352C>A	BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.142G>T	chr4.hg19:g.87809352C>A	ENSP00000420949:p.Glu48*	0					C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR	p.E48*			1	2	3	1.998139	Q96KX1	CD036_HUMAN		6	805	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		Nonsense_Mutation	SNP	ENST00000473559.1	0	1	hg19	c.142G>T	CCDS3615.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.514727	0.98332	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	5.13	3.39	0.38822	5.13	3.39	0.38822	.	0.351640	0.24592	N	0.037207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.2562	6.992	0.24761	0.0:0.7333:0.1743:0.0925	.	.	.	.	X	48	.	ENSP00000295898:E48X	E	-	1	0	0	C4orf36	88028376	88028376	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.233000	0.32648	0.736000	0.32559	-0.274000	0.10170	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	0	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.106391	1	0.170000	NM_144645			10	10		426	418	0		1	0		0	0	80	0		9.966148e-01	1.159357e-01	0	0	0	23	0	10	426
AFF1	4299	broad.mit.edu	37	4	87968170	87968170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000395146.4_Silent_p.P161P|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	154					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GCGGCCCACCGGACAGCCAGC	0.557																																						ENST00000307808.6	1.000000	0.700000	1	8.400000e-01	0.990000	0.939426	0.990000	1.000000																										0				3						c.(460-462)ccG>ccA		AF4/FMR2 family, member 1							77.0	76.0	77.0					4																	87968170		2203	4300	6503	SO:0001819	synonymous_variant	4299	3	121412	36				g.chr4:87968170G>A	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.462G>A	chr4.hg19:g.87968170G>A		0					AFF1_ENST00000395146.4_Silent_p.P161P|AFF1_ENST00000544085.1_Intron	p.P154P	NM_005935.2	NP_005926.1	1	2	3	1.998139	P51825	AFF1_HUMAN		3	882	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	1	1	hg19	c.462G>A	CCDS3616.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-3.017764	1	0.170000	NM_005935			35	35		385	378	0		1	1		0	0	96	0		1	9.651956e-01	0	4	0	58	0	35	385
AFF1	4299	broad.mit.edu	37	4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000395146.4_Missense_Mutation_p.P514H|AFF1_ENST00000544085.1_Missense_Mutation_p.P145H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	507					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TAGCCTGAGCCTCCAACAACA	0.493																																						ENST00000307808.6	1.000000	0.970000	1	9.900000e-01	0.990000	0.997245	0.990000	1.000000																										0				3						c.(1519-1521)cCt>cAt		AF4/FMR2 family, member 1							13.0	18.0	17.0					4																	88035526		2087	4141	6228	SO:0001583	missense	4299	0	0					g.chr4:88035526C>A	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.1520C>A	chr4.hg19:g.88035526C>A	ENSP00000305689:p.Pro507His	0					AFF1_ENST00000395146.4_Missense_Mutation_p.P514H|AFF1_ENST00000544085.1_Missense_Mutation_p.P145H	p.P507H	NM_005935.2	NP_005926.1	1	2	3	1.998139	P51825	AFF1_HUMAN		11	1940	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	1	1	hg19	c.1520C>A	CCDS3616.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278086	0.40294	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.146689	0.48767	D	0.000163	D	0.86451	0.5936	M	0.83774	2.66	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.87195	0.2237	10	0.87932	D	0	-20.0312	20.2566	0.98424	0.0:1.0:0.0:0.0	.	514;507;507	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	H	514;166;507;145	ENSP00000378578:P514H;ENSP00000305689:P507H;ENSP00000440843:P145H	ENSP00000305689:P507H	P	+	2	0	0	AFF1	88254550	88254550	0.977000	0.34250	1.000000	0.80357	0.439000	0.31926	2.238000	0.43070	2.793000	0.96121	0.561000	0.74099	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_005935			20	19		136	134	0		1	1		0	0	48	0		9.999963e-01	9.919584e-01	0	9	0	46	0	20	136
AFF1	4299	broad.mit.edu	37	4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000395146.4_Missense_Mutation_p.L526M|AFF1_ENST00000544085.1_Missense_Mutation_p.L157M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	519					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W525fs*19(2)		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)		GGACAACTGGCTGACCAAAGT	0.527																																						ENST00000307808.6	1.000000	0.910000	1	9.900000e-01	0.990000	0.994746	0.990000	1.000000																										2	Deletion - Frameshift(2)	p.W525fs*19(2)	liver(2)	3						c.(1555-1557)Ctg>Atg		AF4/FMR2 family, member 1							9.0	15.0	13.0					4																	88035561		2118	4194	6312	SO:0001583	missense	4299	0	0					g.chr4:88035561C>A	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.1555C>A	chr4.hg19:g.88035561C>A	ENSP00000305689:p.Leu519Met	0					AFF1_ENST00000395146.4_Missense_Mutation_p.L526M|AFF1_ENST00000544085.1_Missense_Mutation_p.L157M	p.L519M	NM_005935.2	NP_005926.1	1	2	3	1.998139	P51825	AFF1_HUMAN		11	1975	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	1	1	hg19	c.1555C>A	CCDS3616.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568193	0.45798	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.74632	-0.86;-0.86;-0.86	5.89	2.85	0.33270	5.89	2.85	0.33270	.	0.304358	0.28011	N	0.016958	T	0.78886	0.4354	M	0.75777	2.31	0.37332	D	0.910021	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58077	0.832;0.832;0.832	T	0.76833	-0.2813	10	0.44086	T	0.13	-9.4591	5.0038	0.14277	0.1399:0.6017:0.0:0.2585	.	526;519;519	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	526;178;519;157	ENSP00000378578:L526M;ENSP00000305689:L519M;ENSP00000440843:L157M	ENSP00000305689:L519M	L	+	1	2	2	AFF1	88254585	88254585	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.233000	0.21120	0.561000	0.74099	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_005935			20	20		147	145	0		1	1		0	0	45	0		9.999964e-01	8.456008e-01	0	3	0	24	0	20	147
AFF1	4299	broad.mit.edu	37	4	88036157	88036157	+	Silent	SNP	C	C	T	rs367686961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000395146.4_Silent_p.S724S|AFF1_ENST00000544085.1_Silent_p.S355S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	717					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		ACAGTGGCAGCGGCAGCAGGA	0.622																																						ENST00000307808.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(2149-2151)agC>agT		AF4/FMR2 family, member 1		T	,	0,4406		0,0,2203	33.0	38.0	36.0		2172,2151	-3.2	0.0	4		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	724/1219,717/1211	88036157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4299	1	121364	36				g.chr4:88036157C>T	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.2151C>T	chr4.hg19:g.88036157C>T		0					AFF1_ENST00000395146.4_Silent_p.S724S|AFF1_ENST00000544085.1_Silent_p.S355S	p.S717S	NM_005935.2	NP_005926.1	1	2	3	1.998139	P51825	AFF1_HUMAN		11	2571	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	1	1	hg19	c.2151C>T	CCDS3616.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-2.612738	1	0.170000	NM_005935			50	46		215	204	0		1	1		0	0	51	0		1	9.978010e-01	0	5	0	38	0	50	215
AFF1	4299	broad.mit.edu	37	4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000395146.4_Missense_Mutation_p.P887S|AFF1_ENST00000544085.1_Missense_Mutation_p.P518S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	880					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GCCAGCCAAGCCTGCACTTAA	0.587																																						ENST00000307808.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(2638-2640)Cct>Tct		AF4/FMR2 family, member 1							73.0	72.0	72.0					4																	88047336		2203	4300	6503	SO:0001583	missense	4299	0	0					g.chr4:88047336C>T	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.2638C>T	chr4.hg19:g.88047336C>T	ENSP00000305689:p.Pro880Ser	0					AFF1_ENST00000395146.4_Missense_Mutation_p.P887S|AFF1_ENST00000544085.1_Missense_Mutation_p.P518S	p.P880S	NM_005935.2	NP_005926.1	1	2	3	1.998139	P51825	AFF1_HUMAN		13	3058	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	1	1	hg19	c.2638C>T	CCDS3616.1	1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732993	0.15507	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.68624	-0.34;-0.34;-0.34	5.65	0.25	0.15535	5.65	0.25	0.15535	.	0.463760	0.20292	N	0.095213	T	0.51669	0.1688	M	0.65975	2.015	0.31347	N	0.682981	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15052	0.012;0.012;0.012	T	0.37911	-0.9685	10	0.09084	T	0.74	-1.5827	2.1445	0.03783	0.1853:0.4709:0.0986:0.2452	.	887;880;880	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	887;880;518	ENSP00000378578:P887S;ENSP00000305689:P880S;ENSP00000440843:P518S	ENSP00000305689:P880S	P	+	1	0	0	AFF1	88266360	88266360	0.575000	0.26692	0.996000	0.52242	0.291000	0.27294	0.436000	0.21526	0.061000	0.16311	-0.142000	0.14014	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	1		2	2	2	0		0	0	88		88	78	1	2.060000	-3.321297	1	0.170000	NM_005935			78	78		424	392	1		1	1		0	0	88	0		1	9.999953e-01	0	14	0	83	0	78	424
HSD17B13	345275	broad.mit.edu	37	4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313																																						ENST00000328546.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(781-783)tCg>tTg		hydroxysteroid (17-beta) dehydrogenase 13							101.0	104.0	103.0					4																	88231425		2202	4300	6502	SO:0001583	missense	345275	0	0					g.chr4:88231425G>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.782C>T	chr4.hg19:g.88231425G>A	ENSP00000333300:p.Ser261Leu	0					HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	p.S261L	NM_178135.3	NP_835236.2	1	2	3	1.998139	Q7Z5P4	DHB13_HUMAN		6	846	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	1	1	hg19	c.782C>T	CCDS3618.1	1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800683	0.31869	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88741	-2.42;-2.42	5.08	4.23	0.50019	5.08	4.23	0.50019	.	0.250955	0.27600	N	0.018643	D	0.89287	0.6672	M	0.83223	2.63	0.35195	D	0.77378	B;B	0.24317	0.101;0.097	B;B	0.26094	0.045;0.066	D	0.88930	0.3372	10	0.28530	T	0.3	.	14.6226	0.68597	0.0:0.1467:0.8533:0.0	.	225;261	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	L	225;261	ENSP00000305438:S225L;ENSP00000333300:S261L	ENSP00000305438:S225L	S	-	2	0	0	HSD17B13	88450449	88450449	0.996000	0.38824	0.717000	0.30585	0.447000	0.32167	2.874000	0.48483	1.126000	0.42016	0.650000	0.86243	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_178135			70	69		270	260	1		1	0		0	0	50	0		1	0	0	0	0	1	0	70	270
HSD17B11	51170	broad.mit.edu	37	4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	254					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363																																						ENST00000358290.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(760-762)Cag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							93.0	94.0	93.0					4																	88261694		2203	4300	6503	SO:0001587	stop_gained	51170	0	0					g.chr4:88261694G>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.760C>T	chr4.hg19:g.88261694G>A	ENSP00000351035:p.Gln254*	0					HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	p.Q254*	NM_016245.3	NP_057329.2	1	2	3	1.998139	Q8NBQ5	DHB11_HUMAN		6	1075	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	0	1	hg19	c.760C>T	CCDS3619.1	1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483056	0.63962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.64	-0.742	0.11108	5.64	-0.742	0.11108	.	0.674135	0.14663	N	0.305856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.9414	0.47275	0.0:0.1252:0.3101:0.5647	.	.	.	.	X	254;210	.	ENSP00000351035:Q254X	Q	-	1	0	0	HSD17B11	88480718	88480718	0.021000	0.18746	0.613000	0.29037	0.758000	0.43043	-0.102000	0.10956	-0.556000	0.06134	-0.169000	0.13324	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_016245			60	60		247	243	1		1	1		0	0	74	0		1	1	0	47	0	265	0	60	247
HSD17B11	51170	broad.mit.edu	37	4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	188					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388																																						ENST00000358290.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				11						c.(562-564)aGc>aAc		hydroxysteroid (17-beta) dehydrogenase 11							66.0	62.0	64.0					4																	88278563		2202	4300	6502	SO:0001583	missense	51170	0	0					g.chr4:88278563C>T	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.563G>A	chr4.hg19:g.88278563C>T	ENSP00000351035:p.Ser188Asn	0					HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N|HSD17B11_ENST00000507518.1_5'UTR	p.S188N	NM_016245.3	NP_057329.2	1	2	3	1.998139	Q8NBQ5	DHB11_HUMAN		5	878	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	1	1	hg19	c.563G>A	CCDS3619.1	1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795814	0.70452	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.90676	-2.71;0.08	5.66	5.66	0.87406	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.056065	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98068	4.14	0.40500	D	0.980637	D	0.67145	0.996	D	0.71656	0.974	D	0.98446	1.0589	10	0.87932	D	0	.	14.1698	0.65503	0.0:0.8499:0.1501:0.0	.	188	Q8NBQ5	DHB11_HUMAN	N	188;144	ENSP00000351035:S188N;ENSP00000423775:S144N	ENSP00000351035:S188N	S	-	2	0	0	HSD17B11	88497587	88497587	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.715000	0.47210	2.653000	0.90120	0.561000	0.74099	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_016245			22	21		102	100	1		1	1		0	0	22	0		9.999992e-01	1	0	95	0	344	0	22	102
NUDT9	53343	broad.mit.edu	37	4	88359522	88359522	+	Silent	SNP	G	G	A	rs115855591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000302174.4	+	3	765	c.441G>A	c.(439-441)ccG>ccA	p.P147P	NUDT9_ENST00000473942.1_Silent_p.P97P	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	147					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373																																						ENST00000302174.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(439-441)ccG>ccA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							98.0	94.0	95.0					4																	88359522		2203	4300	6503	SO:0001819	synonymous_variant	53343	2	121412	35				g.chr4:88359522G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.441G>A	chr4.hg19:g.88359522G>A		0					NUDT9_ENST00000473942.1_Silent_p.P97P	p.P147P	NM_024047.4	NP_076952.1	1	2	3	1.998139	Q9BW91	NUDT9_HUMAN		3	765	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	1	1	hg19	c.441G>A	CCDS3620.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-3.047624	1	0.170000				60	60		253	245	1		1	1		0	0	64	0		1	9.999998e-01	0	16	0	84	0	60	253
SPARCL1	8404	broad.mit.edu	37	4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000282470.6	-	10	2319	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*|SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	617					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)		AGAGATGCTCGCAGAGGAGCA	0.478																																						ENST00000282470.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1849-1851)Cga>Tga		SPARC-like 1 (hevin)							110.0	102.0	105.0					4																	88400699		2203	4300	6503	SO:0001587	stop_gained	8404	1	121412	32				g.chr4:88400699G>A	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.1849C>T	chr4.hg19:g.88400699G>A	ENSP00000282470:p.Arg617*	0					SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*	p.R617*	NM_004684.4	NP_004675.3	1	2	3	1.998139	Q14515	SPRL1_HUMAN		10	2319	-			B4E2Z0|E7ESU2|Q14800	Nonsense_Mutation	SNP	ENST00000282470.6	0	1	hg19	c.1849C>T	CCDS3622.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.575148	0.99208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	5.11	3.16	0.36331	5.11	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0128	12.4782	0.55827	0.0:0.0:0.5959:0.4041	.	.	.	.	X	617;617;492;492	.	ENSP00000282470:R617X	R	-	1	2	2	SPARCL1	88619723	88619723	0.809000	0.29036	1.000000	0.80357	0.973000	0.67179	1.043000	0.30316	1.417000	0.47077	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.521541	1	0.170000				78	78		327	323	1		1	0		0	0	85	0		1	1	0	0	0	1019	0	78	327
SPARCL1	8404	broad.mit.edu	37	4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000282470.6	-	4	1564	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	365					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)		AAAGGCCTGGCTTGGGATGAA	0.478																																						ENST00000282470.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1093-1095)aGc>aAc		SPARC-like 1 (hevin)							96.0	90.0	92.0					4																	88414858		2203	4300	6503	SO:0001583	missense	8404	0	0					g.chr4:88414858C>T	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.1094G>A	chr4.hg19:g.88414858C>T	ENSP00000282470:p.Ser365Asn	0					SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N	p.S365N	NM_004684.4	NP_004675.3	1	2	3	1.998139	Q14515	SPRL1_HUMAN		4	1564	-			B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	1	1	hg19	c.1094G>A	CCDS3622.1	1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801181	0.70567	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.439796	0.25335	N	0.031403	D	0.91925	0.7443	L	0.36672	1.1	0.25029	N	0.991288	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.84802	0.0785	10	0.62326	D	0.03	-11.5295	12.6178	0.56586	0.0:1.0:0.0:0.0	.	365;365	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	365;365;240;240	ENSP00000282470:S365N;ENSP00000414856:S365N;ENSP00000422903:S240N	ENSP00000282470:S365N	S	-	2	0	0	SPARCL1	88633882	88633882	0.993000	0.37304	1.000000	0.80357	0.727000	0.41649	0.960000	0.29253	2.689000	0.91719	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				72	71		274	270	1		1	0		0	0	50	0		1	1	0	0	0	1109	0	72	274
SPARCL1	8404	broad.mit.edu	37	4	88415481	88415481	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000282470.6	-	4	941	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_ENST00000418378.1_Silent_p.I157I|SPARCL1_ENST00000503414.1_Silent_p.I32I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	157					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)		CTCTCTTTGTGATACTTTCTT	0.403																																						ENST00000282470.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(469-471)atC>atA		SPARC-like 1 (hevin)							164.0	159.0	161.0					4																	88415481		2203	4300	6503	SO:0001819	synonymous_variant	8404	0	0					g.chr4:88415481G>T	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.471C>A	chr4.hg19:g.88415481G>T		0					SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000418378.1_Silent_p.I157I	p.I157I	NM_004684.4	NP_004675.3	1	2	3	1.998139	Q14515	SPRL1_HUMAN		4	941	-			B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	1	1	hg19	c.471C>A	CCDS3622.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000				136	134		644	631	0		1	0		0	0	136	0		1	1	0	1	0	1441	0	136	644
IBSP	3381	broad.mit.edu	37	4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	108	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428																																						ENST00000226284.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(322-324)tCt>tAt		integrin-binding sialoprotein							125.0	126.0	126.0					4																	88731834		2203	4300	6503	SO:0001583	missense	3381	0	0					g.chr4:88731834C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.323C>A	chr4.hg19:g.88731834C>A	ENSP00000226284:p.Ser108Tyr	0						p.S108Y	NM_004967.3	NP_004958.2	1	2	3	1.998139	P21815	SIAL_HUMAN		6	390	+		Hepatocellular(203;0.114)		Missense_Mutation	SNP	ENST00000226284.5	1	1	hg19	c.323C>A	CCDS3624.1	1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000029559	ENST00000226284	T	0.16073	2.37	5.23	4.36	0.52297	5.23	4.36	0.52297	.	0.450652	0.21382	N	0.075451	T	0.38427	0.1040	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.19063	-1.0317	10	0.72032	D	0.01	.	11.8883	0.52615	0.0:0.8238:0.1762:0.0	.	108	P21815	SIAL_HUMAN	Y	108	ENSP00000226284:S108Y	ENSP00000226284:S108Y	S	+	2	0	0	IBSP	88950858	88950858	0.124000	0.22315	0.061000	0.19648	0.132000	0.20833	1.984000	0.40658	1.274000	0.44362	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000				104	101		476	468	1		1	0		0	0	101	0		1	1.516119e-01	0	0	0	4	0	104	476
IBSP	3381	broad.mit.edu	37	4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	141	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378																																						ENST00000226284.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(421-423)aAt>aTt		integrin-binding sialoprotein							56.0	59.0	58.0					4																	88732530		2203	4300	6503	SO:0001583	missense	3381	0	0					g.chr4:88732530A>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.422A>T	chr4.hg19:g.88732530A>T	ENSP00000226284:p.Asn141Ile	0						p.N141I	NM_004967.3	NP_004958.2	1	2	3	1.998139	P21815	SIAL_HUMAN		7	489	+		Hepatocellular(203;0.114)		Missense_Mutation	SNP	ENST00000226284.5	1	1	hg19	c.422A>T	CCDS3624.1	1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174606	0.21704	.	.	ENSG00000029559	ENST00000226284	T	0.11604	2.76	4.82	-0.215	0.13157	4.82	-0.215	0.13157	.	1.549700	0.03559	N	0.226805	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	P	0.40731	0.728	B	0.42959	0.403	T	0.34601	-0.9822	10	0.45353	T	0.12	.	7.9182	0.29831	0.6572:0.0:0.3428:0.0	.	141	P21815	SIAL_HUMAN	I	141	ENSP00000226284:N141I	ENSP00000226284:N141I	N	+	2	0	0	IBSP	88951554	88951554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	0.017000	0.15025	-0.346000	0.07831	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				45	44		193	191	1		1	0		0	0	39	0		1	4.698714e-01	0	0	0	8	0	45	193
PKD2	5311	broad.mit.edu	37	4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	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)			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)		TCCCTTTGGGCCCCGAAATGG	0.453																																						ENST00000237596.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1078-1080)Ccc>Tcc		polycystic kidney disease 2 (autosomal dominant)							89.0	91.0	90.0					4																	88959637		2203	4300	6503	SO:0001583	missense	5311	0	0					g.chr4:88959637C>T	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	ENST00000237596.2:c.1078C>T	chr4.hg19:g.88959637C>T	ENSP00000237596:p.Pro360Ser	0						p.P360S	NM_000297.3	NP_000288.1	1	2	3	1.998139	Q9BZL6	KPCD2_HUMAN		4	1144	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	1	1	hg19	c.1078C>T	CCDS3627.1	1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669219	0.14776	.	.	ENSG00000118762	ENST00000237596	T	0.69435	-0.4	5.75	5.75	0.90469	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.163462	0.56097	D	0.000032	T	0.65439	0.2691	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.36885	0.235	T	0.58880	-0.7558	10	0.30854	T	0.27	-8.2264	19.9598	0.97242	0.0:1.0:0.0:0.0	.	360	Q13563	PKD2_HUMAN	S	360	ENSP00000237596:P360S	ENSP00000237596:P360S	P	+	1	0	0	PKD2	89178661	89178661	0.929000	0.31497	0.277000	0.24703	0.970000	0.65996	5.836000	0.69375	2.716000	0.92895	0.655000	0.94253	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.287214	1	0.170000	NM_000297			72	71		333	324	1		1	1		0	0	71	0		1	9.999998e-01	0	5	0	101	0	72	333
PKD2	5311	broad.mit.edu	37	4	88968016	88968016	+	Silent	SNP	C	C	T	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	ENST00000237596.2	+	6	1608	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	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)			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)		ATGTTGTGATCGTTGTGGTAG	0.363																																						ENST00000237596.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1540-1542)atC>atT		polycystic kidney disease 2 (autosomal dominant)		C		0,4406		0,0,2203	125.0	123.0	123.0		1542	0.2	0.5	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD2	NM_000297.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		514/969	88968016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5311	4	121410	40				g.chr4:88968016C>T	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	ENST00000237596.2:c.1542C>T	chr4.hg19:g.88968016C>T		0					PKD2_ENST00000508588.1_Intron	p.I514I	NM_000297.3	NP_000288.1	1	2	3	1.998139	Q9BZL6	KPCD2_HUMAN		6	1608	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	1	1	hg19	c.1542C>T	CCDS3627.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.812111	1	0.170000	NM_000297			86	84		392	386	0		1	1		0	0	75	0		1	1	0	3	0	130	0	86	392
ABCG2	9429	broad.mit.edu	37	4	89015812	89015812	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89015812C>T	ENST00000237612.3	-	15	2283		c.e15-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						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)			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)	GCTGCAAAGCCTATAACACAA	0.373																																						ENST00000237612.3	1.000000	0.220000	6.100000e-01	3.100000e-01	0.430000	0.474102	0.430000	0.410000																										0				42						c.e15-1		ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	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)						95.0	86.0	89.0					4																	89015812		2203	4300	6503	SO:0001630	splice_region_variant	9429	0	0					g.chr4:89015812C>T	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.1738-1G>A	chr4.hg19:g.89015812C>T		0					ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	1	2	3	1.998139	Q9UNQ0	ABCG2_HUMAN		15	2283	-		Hepatocellular(203;0.114)	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	1	1	hg19		CCDS3628.1	0	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011891	0.75046	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ABCG2	89234836	89234836	1.000000	0.71417	0.997000	0.53966	0.832000	0.47134	3.577000	0.53885	2.724000	0.93272	0.563000	0.77884	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-11.066470	1	0.170000	NM_004827	Intron		10	10		277	275	0		1			0	0	37	0		9.969118e-01	0	0	0	0	0	0	10	277
ABCG2	9429	broad.mit.edu	37	4	89016716	89016716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	565	ABC transmembrane type-2.				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)			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)	AGCCATGACAGCCAAGATGCA	0.408																																						ENST00000237612.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				42						c.(1693-1695)Ctg>Ttg		ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	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)						148.0	118.0	128.0					4																	89016716		2203	4300	6503	SO:0001819	synonymous_variant	9429	0	0					g.chr4:89016716G>A	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.1693C>T	chr4.hg19:g.89016716G>A		0					ABCG2_ENST00000515655.1_Silent_p.G561G	p.L565L	NM_004827.2	NP_004818.2	1	2	3	1.998139	Q9UNQ0	ABCG2_HUMAN		14	2238	-		Hepatocellular(203;0.114)	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	1	1	hg19	c.1693C>T	CCDS3628.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-17.893700	1	0.170000	NM_004827			37	37		228	226	1		1	1		0	0	58	0		1	9.686303e-01	0	12	0	25	0	37	228
ABCG2	9429	broad.mit.edu	37	4	89020601	89020601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						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)			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)	GTATTCATGTCTATAGAACAA	0.383																																						ENST00000237612.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.e12-1		ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	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)						98.0	97.0	98.0					4																	89020601		2203	4300	6503	SO:0001630	splice_region_variant	9429	0	0					g.chr4:89020601C>A	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.1368-1G>T	chr4.hg19:g.89020601C>A		0					ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	1	2	3	1.998139	Q9UNQ0	ABCG2_HUMAN		12	1913	-		Hepatocellular(203;0.114)	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	1	1	hg19		CCDS3628.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126719	0.77549	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ABCG2	89239625	89239625	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	7.467000	0.80930	2.421000	0.82119	0.467000	0.42956	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_004827	Intron		53	53		246	246	1		1			0	0	73	0		1	0	0	0	0	0	0	53	246
ABCG2	9429	broad.mit.edu	37	4	89034473	89034473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	392	ABC transmembrane type-2.				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)			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)	TAGAGGCCTGGGGATTACCCA	0.423																																						ENST00000237612.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1174-1176)ccC>ccT		ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	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)						112.0	113.0	112.0					4																	89034473		2203	4300	6503	SO:0001819	synonymous_variant	9429	0	0					g.chr4:89034473G>A	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.1176C>T	chr4.hg19:g.89034473G>A		0					ABCG2_ENST00000515655.1_Silent_p.P392P	p.P392P	NM_004827.2	NP_004818.2	1	2	3	1.998139	Q9UNQ0	ABCG2_HUMAN		9	1721	-		Hepatocellular(203;0.114)	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	1	1	hg19	c.1176C>T	CCDS3628.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-2.655428	1	0.170000	NM_004827			112	108		457	443	1		1	1		0	0	150	0		1	9.957198e-01	0	5	0	31	0	112	457
HERC6	55008	broad.mit.edu	37	4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89311904G>T	ENST00000264346.7	+	4	596	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000380265.5_Missense_Mutation_p.E179D	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	179					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGTCCCTGGAGGGGATCCCAC	0.627																																						ENST00000264346.7	1.000000	0.170000	5.500000e-01	2.600000e-01	0.380000	0.424387	0.380000	0.350000																										0				11						c.(535-537)gaG>gaT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							48.0	56.0	53.0					4																	89311904		2203	4300	6503	SO:0001583	missense	55008	0	0					g.chr4:89311904G>T	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.537G>T	chr4.hg19:g.89311904G>T	ENSP00000264346:p.Glu179Asp	0					HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000380265.5_Missense_Mutation_p.E179D	p.E179D	NM_017912.3	NP_060382.3	1	2	3	1.998139	Q8IVU3	HERC6_HUMAN		4	596	+		Hepatocellular(203;0.114)	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	0	1	hg19	c.537G>T	CCDS47098.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.574|8.574	0.880806|0.880806	0.17467|0.17467	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	D;D;D|.	0.85484|.	-1.99;-1.99;-1.99|.	4.62|4.62	-1.65|-1.65	0.08291|0.08291	4.62|4.62	-1.65|-1.65	0.08291|0.08291	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.516982|.	0.18680|.	N|.	0.134194|.	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.16478|0.16478	0.41|0.41	0.26412|0.26412	N|N	0.976246|0.976246	B;B|.	0.15719|.	0.014;0.003|.	B;B|.	0.19946|.	0.027;0.015|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.13108|.	T|.	0.6|.	.|.	0.4484|0.4484	0.00497|0.00497	0.3259:0.1176:0.2342:0.3223|0.3259:0.1176:0.2342:0.3223	.|.	179;179|.	Q8IVU3-2;Q8IVU3|.	.;HERC6_HUMAN|.	D|M	179|144	ENSP00000369617:E179D;ENSP00000273960:E179D;ENSP00000264346:E179D|.	ENSP00000264346:E179D|.	E|R	+|+	3|2	2|0	2|0	HERC6|HERC6	89530927|89530927	89530927|89530927	0.536000|0.536000	0.26378|0.26378	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	0.131000|0.131000	0.15870|0.15870	-0.175000|-0.175000	0.10725|0.10725	0.447000|0.447000	0.29281|0.29281	GAG|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.547101	1	0.170000				8	8		258	252	0		1	1		0	0	49	0		9.884824e-01	9.113602e-01	0	6	0	135	0	8	258
HERC6	55008	broad.mit.edu	37	4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000264346.7	+	6	910	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000380265.5_Missense_Mutation_p.R284I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	284					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428																																						ENST00000264346.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(850-852)aGa>aTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							97.0	97.0	97.0					4																	89317258		1881	4119	6000	SO:0001583	missense	55008	0	0					g.chr4:89317258G>T	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.851G>T	chr4.hg19:g.89317258G>T	ENSP00000264346:p.Arg284Ile	0					HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000380265.5_Missense_Mutation_p.R284I	p.R284I	NM_017912.3	NP_060382.3	1	2	3	1.998139	Q8IVU3	HERC6_HUMAN		6	910	+		Hepatocellular(203;0.114)	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	1	1	hg19	c.851G>T	CCDS47098.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475392	0.43942	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.32;-1.81	4.29	2.4	0.29515	4.29	2.4	0.29515	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.443550	0.04262	N	0.340499	T	0.75398	0.3844	N	0.17723	0.515	0.09310	N	1	P;B	0.44090	0.826;0.0	B;B	0.40506	0.331;0.002	T	0.67213	-0.5727	10	0.34782	T	0.22	.	5.7191	0.17976	0.1896:0.1643:0.6461:0.0	.	284;284	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	284	ENSP00000369617:R284I;ENSP00000273960:R284I;ENSP00000264346:R284I	ENSP00000264346:R284I	R	+	2	0	0	HERC6	89536281	89536281	0.010000	0.17322	0.471000	0.27229	0.853000	0.48598	1.106000	0.31098	1.162000	0.42619	-0.339000	0.08088	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000				47	47		230	226	1		1	1		0	0	50	0		1	1	0	86	0	149	0	47	230
HERC5	51191	broad.mit.edu	37	4	89389501	89389501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89389501C>T	ENST00000264350.3	+	8	1215	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	354					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.S354S(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)		TTTCAGAAAGCCATACCTCAG	0.343																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3	1.000000	0.140000	4.300000e-01	2.100000e-01	0.300000	0.349218	0.300000	0.280000																										1	Substitution - coding silent(1)	p.S354S(1)	endometrium(1)	53						c.(1060-1062)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase 5							98.0	101.0	100.0					4																	89389501		2203	4300	6503	SO:0001819	synonymous_variant	51191	0	0					g.chr4:89389501C>T	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.1062C>T	chr4.hg19:g.89389501C>T		0					HERC5_ENST00000508159.1_5'UTR	p.S354S	NM_016323.3	NP_057407.2	1	2	3	1.998139	Q9UII4	HERC5_HUMAN		8	1215	+		Hepatocellular(203;0.114)	B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	1	1	hg19	c.1062C>T	CCDS3630.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.304138	1	0.170000	NM_016323			9	9		365	361	0		1	1		0	0	61	0		9.940688e-01	7.202257e-01	0	4	0	98	0	9	365
HERC5	51191	broad.mit.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A	rs375430185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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)		GAAGAATTTCGGAGAGGATTT	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17001	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2653-2655)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 5		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	82.0	81.0		2654	3.5	1.0	4		81	0,8598		0,0,4299	no	missense	HERC5	NM_016323.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	885/1025	89425454	1,13003	2203	4299	6502	SO:0001583	missense	51191	3	121404	40				g.chr4:89425454G>A	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.2654G>A	chr4.hg19:g.89425454G>A	ENSP00000264350:p.Arg885Gln	0					HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	p.R885Q	NM_016323.3	NP_057407.2	1	2	3	1.998139	Q9UII4	HERC5_HUMAN		21	2807	+		Hepatocellular(203;0.114)	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	1	1	hg19	c.2654G>A	CCDS3630.1	1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217624	0.06101	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.49139	0.79;0.79	4.62	3.45	0.39498	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.17831	0.0428	N	0.03071	-0.42	0.22581	N	0.998963	B	0.13594	0.008	B	0.14023	0.01	T	0.29822	-0.9999	10	0.02654	T	1	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	Q	885;523	ENSP00000264350:R885Q;ENSP00000424129:R523Q	ENSP00000264350:R885Q	R	+	2	0	0	HERC5	89644477	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-2.725963	1	0.170000	NM_016323			90	87		403	394	1		1	1		0	0	72	0		1	1	0	16	0	134	0	90	403
HERC5	51191	broad.mit.edu	37	4	89426989	89426989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89426989C>T	ENST00000264350.3	+	23	3188	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1012	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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)		GTTGAAGAAGCGCTTCAAGAA	0.413																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3	1.000000	0.180000	7.700000e-01	3.100000e-01	0.490000	0.536125	0.490000	1.000000																										0				53						c.(3034-3036)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 5							56.0	56.0	56.0					4																	89426989		2203	4300	6503	SO:0001583	missense	51191	1	121412	35				g.chr4:89426989C>T	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.3035C>T	chr4.hg19:g.89426989C>T	ENSP00000264350:p.Ala1012Val	0					HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	p.A1012V	NM_016323.3	NP_057407.2	1	2	3	1.998139	Q9UII4	HERC5_HUMAN		23	3188	+		Hepatocellular(203;0.114)	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	0	1	hg19	c.3035C>T	CCDS3630.1	0	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651724	0.67472	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.42513	0.97;0.97	4.33	4.33	0.51752	4.33	4.33	0.51752	HECT (4);	0.181776	0.26808	N	0.022399	T	0.54727	0.1876	L	0.58302	1.8	0.24828	N	0.992545	D	0.61080	0.989	D	0.65323	0.934	T	0.45833	-0.9234	10	0.56958	D	0.05	.	9.5764	0.39461	0.2091:0.7909:0.0:0.0	.	1012	Q9UII4	HERC5_HUMAN	V	1012;650	ENSP00000264350:A1012V;ENSP00000424129:A650V	ENSP00000264350:A1012V	A	+	2	0	0	HERC5	89646012	89646012	0.978000	0.34361	0.955000	0.39395	0.921000	0.55340	2.480000	0.45206	2.240000	0.73641	0.591000	0.81541	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-3.596791	1	0.170000	NM_016323			5	5		127	124	0		1	1		0	0	24	0		9.349467e-01	9.074547e-01	0	5	0	107	0	5	127
HERC3	8916	broad.mit.edu	37	4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	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	110					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)			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)		TTCTTGGGGTGCAGGGAGTGA	0.498																																						ENST00000402738.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(328-330)Gca>Aca		HECT and RLD domain containing E3 ubiquitin protein ligase 3							150.0	145.0	147.0					4																	89571092		2203	4300	6503	SO:0001583	missense	8916	0	0					g.chr4:89571092G>A	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.328G>A	chr4.hg19:g.89571092G>A	ENSP00000385684:p.Ala110Thr	0					HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	1	2	3	1.998139	Q15034	HERC3_HUMAN		4	567	+			A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	1	1	hg19	c.328G>A	CCDS34028.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770586	0.49680	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.32	5.32	0.75619	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054047	0.64402	D	0.000001	D	0.86952	0.6057	L	0.41492	1.28	0.80722	D	1	B;D	0.67145	0.372;0.996	B;P	0.61070	0.216;0.883	D	0.85247	0.1042	9	.	.	.	.	14.0809	0.64922	0.0:0.0:0.8496:0.1504	.	110;110	Q15034;Q8IXX3	HERC3_HUMAN;.	T	110	ENSP00000385684:A110T;ENSP00000405863:A110T;ENSP00000384005:A110T;ENSP00000389991:A110T;ENSP00000406210:A110T;ENSP00000264345:A110T	.	A	+	1	0	0	HERC3	89790115	89790115	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	2.734000	0.47368	2.772000	0.95346	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_014606			102	100		438	431	1		1	1		0	0	89	0		1	9.999945e-01	0	14	0	62	0	102	438
FAM13A	10144	broad.mit.edu	37	4	89708990	89708990	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000503556.1_Silent_p.G55G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	395					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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						CTGATAGTGTTCCAGATTCTG	0.478																																						ENST00000264344.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1183-1185)ggA>ggG		family with sequence similarity 13, member A							112.0	111.0	111.0					4																	89708990		2203	4300	6503	SO:0001819	synonymous_variant	10144	0	0					g.chr4:89708990T>C	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.1185A>G	chr4.hg19:g.89708990T>C		0					FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000513837.1_Silent_p.G41G	p.G395G	NM_014883.3	NP_055698.2	1	2	3	1.998139	O94988	FA13A_HUMAN		10	1392	-			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	1	1	hg19	c.1185A>G	CCDS34029.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000				79	78		325	318	1		1	1		0	0	52	0		1	9.971565e-01	0	12	0	27	0	79	325
TIGD2	166815	broad.mit.edu	37	4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	220	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423																																						ENST00000317005.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(658-660)Tta>Gta		tigger transposable element derived 2							73.0	76.0	75.0					4																	90034783		2203	4300	6503	SO:0001583	missense	166815	0	0					g.chr4:90034783T>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.658T>G	chr4.hg19:g.90034783T>G	ENSP00000317170:p.Leu220Val	0					RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	p.L220V	NM_145715.2	NP_663761.1	1	2	3	1.998139	Q4W5G0	TIGD2_HUMAN		1	816	+		Hepatocellular(203;0.114)		Missense_Mutation	SNP	ENST00000317005.2	1	1	hg19	c.658T>G	CCDS3633.1	1	.	.	.	.	.	.	.	.	.	.	t	8.260	0.811071	0.16537	.	.	ENSG00000180346	ENST00000317005	T	0.42513	0.97	3.97	2.79	0.32731	3.97	2.79	0.32731	.	0.546237	0.13764	U	0.364393	T	0.28632	0.0709	L	0.27053	0.805	0.19575	N	0.999963	B	0.31655	0.334	B	0.37780	0.258	T	0.21280	-1.0250	10	0.30078	T	0.28	-0.4011	3.2543	0.06826	0.2038:0.1127:0.0:0.6836	.	220	Q4W5G0	TIGD2_HUMAN	V	220	ENSP00000317170:L220V	ENSP00000317170:L220V	L	+	1	2	2	TIGD2	90253806	90253806	0.983000	0.35010	0.997000	0.53966	0.983000	0.72400	0.723000	0.25939	0.602000	0.29896	0.446000	0.29264	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_145715			63	63		305	299	1		1	1		0	0	82	0		1	9.485267e-01	0	11	0	15	0	63	305
GPRIN3	285513	broad.mit.edu	37	4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	436										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)		CTCCCATCTTCTTTACACGTA	0.468																																						ENST00000609438.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1306-1308)Gaa>Aaa		GPRIN family member 3							94.0	95.0	95.0					4																	90169956		2203	4300	6503	SO:0001583	missense	285513	0	0					g.chr4:90169956C>T	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.1306G>A	chr4.hg19:g.90169956C>T	ENSP00000476603:p.Glu436Lys	0					GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	p.E436K	NM_198281.2	NP_938022.2	1	2	3	1.998139	Q6ZVF9	GRIN3_HUMAN		2	1824	-		Hepatocellular(203;0.114)	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	1	1	hg19	c.1306G>A	CCDS34030.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613589	0.28712	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.82	2.05	0.26809	4.82	2.05	0.26809	.	0.481105	0.15476	N	0.260322	T	0.07818	0.0196	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.41770	-0.9490	10	0.17369	T	0.5	-8.3944	8.4706	0.32982	0.0:0.6282:0.2928:0.0789	.	436	Q6ZVF9	GRIN3_HUMAN	K	436	ENSP00000328672:E436K	ENSP00000328672:E436K	E	-	1	0	0	GPRIN3	90388979	90388979	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	0.180000	0.16860	0.211000	0.20683	0.563000	0.77884	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-20.000000	1	0.170000	NM_198281			90	89		446	434	1		1	0		0	0	112	0		1	8.513466e-01	0	0	0	19	0	90	446
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	154										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)		TCTCATCAGGGAATCTTCAGG	0.512																																						ENST00000609438.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(460-462)tCc>tTc		GPRIN family member 3							161.0	155.0	157.0					4																	90170801		2203	4300	6503	SO:0001583	missense	285513	0	0					g.chr4:90170801G>A	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.461C>T	chr4.hg19:g.90170801G>A	ENSP00000476603:p.Ser154Phe	0					GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	p.S154F	NM_198281.2	NP_938022.2	1	2	3	1.998139	Q6ZVF9	GRIN3_HUMAN		2	979	-		Hepatocellular(203;0.114)	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	1	1	hg19	c.461C>T	CCDS34030.1	1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115217	0.37339	.	.	ENSG00000185477	ENST00000333209	T	0.14144	2.53	4.98	3.27	0.37495	4.98	3.27	0.37495	.	1.263240	0.06064	N	0.658931	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.34204	-0.9838	10	0.72032	D	0.01	0.6284	10.0464	0.42188	0.1562:0.0:0.8438:0.0	.	154	Q6ZVF9	GRIN3_HUMAN	F	154	ENSP00000328672:S154F	ENSP00000328672:S154F	S	-	2	0	0	GPRIN3	90389824	90389824	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.839000	0.27586	0.815000	0.34398	-0.145000	0.13849	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_198281			119	119		516	506	1		1	0		0	0	121	0		1	9.234136e-01	0	1	0	20	0	119	516
MMRN1	22915	broad.mit.edu	37	4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000394980.1	+	7	2010	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S			Q13201	MMRN1_HUMAN	multimerin 1	564					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)				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)		CTGCAAATGTTTGAAGATTTG	0.383																																						ENST00000394980.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(1690-1692)tTt>tCt		multimerin 1							69.0	71.0	70.0					4																	90856522		2203	4300	6503	SO:0001583	missense	22915	0	0					g.chr4:90856522T>C	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.1691T>C	chr4.hg19:g.90856522T>C	ENSP00000378431:p.Phe564Ser	0					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S|MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S	p.F564S			1	2	3	1.998139	Q13201	MMRN1_HUMAN		7	2010	+		Hepatocellular(203;0.114)	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	1	1	hg19	c.1691T>C	CCDS3635.1	1	.	.	.	.	.	.	.	.	.	.	T	2.832	-0.242392	0.05906	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68765	-0.02;-0.02;-0.35	5.12	-1.87	0.07737	5.12	-1.87	0.07737	.	0.556954	0.18268	N	0.146411	T	0.44726	0.1307	L	0.31294	0.92	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.17684	-1.0361	10	0.33940	T	0.23	.	4.6722	0.12694	0.2727:0.3577:0.0:0.3696	.	564	Q13201	MMRN1_HUMAN	S	564;564;306	ENSP00000378431:F564S;ENSP00000264790:F564S;ENSP00000426461:F306S	ENSP00000264790:F564S	F	+	2	0	0	MMRN1	91075545	91075545	0.229000	0.23729	0.001000	0.08648	0.052000	0.14988	0.727000	0.25999	-0.075000	0.12798	0.482000	0.46254	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_007351			70	69		290	288	1		1	0		0	0	72	0		1	4.119414e-01	0	0	0	7	0	70	290
MMRN1	22915	broad.mit.edu	37	4	90872841	90872841	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000394980.1	+	8	3523	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_ENST00000264790.2_Silent_p.R1068R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000508372.1_Silent_p.R810R			Q13201	MMRN1_HUMAN	multimerin 1	1068	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				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)		GTGCCTGCAGACATCCTTTTA	0.433																																						ENST00000394980.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3202-3204)agA>agG		multimerin 1							114.0	97.0	103.0					4																	90872841		2203	4300	6503	SO:0001819	synonymous_variant	22915	0	0					g.chr4:90872841A>G	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.3204A>G	chr4.hg19:g.90872841A>G		0					MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R|MMRN1_ENST00000508372.1_Silent_p.R810R	p.R1068R			1	2	3	1.998139	Q13201	MMRN1_HUMAN		8	3523	+		Hepatocellular(203;0.114)	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	1	1	hg19	c.3204A>G	CCDS3635.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_007351			58	58		276	269	1		1	0		0	0	68	0		1	6.449603e-01	0	0	0	12	0	58	276
MMRN1	22915	broad.mit.edu	37	4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000394980.1	+	9	3623	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T			Q13201	MMRN1_HUMAN	multimerin 1	1102	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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)				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)		ACCCATGGTGGCATTTTTTGC	0.348																																						ENST00000394980.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3304-3306)Gca>Aca		multimerin 1							105.0	109.0	108.0					4																	90874186		2203	4299	6502	SO:0001583	missense	22915	0	0					g.chr4:90874186G>A	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.3304G>A	chr4.hg19:g.90874186G>A	ENSP00000378431:p.Ala1102Thr	0					MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T|MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T	p.A1102T			1	2	3	1.998139	Q13201	MMRN1_HUMAN		9	3623	+		Hepatocellular(203;0.114)	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	1	1	hg19	c.3304G>A	CCDS3635.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347667	0.82022	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.73	4.73	0.59995	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.178274	0.39083	N	0.001472	D	0.91895	0.7434	M	0.73598	2.24	0.34893	D	0.745759	D;D	0.89917	0.996;1.0	D;D	0.91635	0.974;0.999	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7536	0.85493	0.0:0.0:1.0:0.0	.	405;1102	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1102;1102;405;844	ENSP00000378431:A1102T;ENSP00000264790:A1102T;ENSP00000378432:A405T;ENSP00000426461:A844T	ENSP00000264790:A1102T	A	+	1	0	0	MMRN1	91093209	91093209	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.628000	0.61282	2.569000	0.86673	0.484000	0.47621	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.354139	1	0.170000	NM_007351			98	98		460	453	1		1	0		0	0	87	0		1	6.010386e-01	0	0	0	11	0	98	460
GRID2	2895	broad.mit.edu	37	4	94006190	94006190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94006190A>G	ENST00000282020.4	+	3	547	c.289A>G	c.(289-291)Att>Gtt	p.I97V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	97					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)			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)		GGTCAGCTCCATTGGCTGCAC	0.512																																						ENST00000282020.4	1.000000	0.250000	6.400000e-01	3.400000e-01	0.460000	0.504370	0.460000	0.440000																										0				100						c.(289-291)Att>Gtt		glutamate receptor, ionotropic, delta 2							101.0	81.0	88.0					4																	94006190		2203	4300	6503	SO:0001583	missense	2895	1	121412	30				g.chr4:94006190A>G	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.289A>G	chr4.hg19:g.94006190A>G	ENSP00000282020:p.Ile97Val	0					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.I97V	NM_001510.2	NP_001501.2	1	2	3	1.998139	O43424	GRID2_HUMAN		3	547	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	1	1	hg19	c.289A>G	CCDS3637.1	0	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258560	0.59321	.	.	ENSG00000152208	ENST00000282020	D	0.81499	-1.5	5.12	5.12	0.69794	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.167972	0.50627	D	0.000117	T	0.77294	0.4109	L	0.34521	1.04	0.80722	D	1	P;P	0.46327	0.589;0.876	B;P	0.47376	0.216;0.545	T	0.77083	-0.2719	10	0.36615	T	0.2	.	15.2094	0.73206	1.0:0.0:0.0:0.0	.	97;38	O43424;B4DYB9	GRID2_HUMAN;.	V	97	ENSP00000282020:I97V	ENSP00000282020:I97V	I	+	1	0	0	GRID2	94225213	94225213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.064000	0.61679	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-13.077420	1	0.170000				12	12		305	300	0		1			0	0	73	0		9.990761e-01	0	0	0	0	0	0	12	305
GRID2	2895	broad.mit.edu	37	4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	511					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)			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)		CTTGGTAGGAGAACTTGTCTT	0.368																																						ENST00000282020.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(1531-1533)Gaa>Aaa		glutamate receptor, ionotropic, delta 2							102.0	100.0	101.0					4																	94344105		2203	4300	6503	SO:0001583	missense	2895	0	0					g.chr4:94344105G>A	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.1531G>A	chr4.hg19:g.94344105G>A	ENSP00000282020:p.Glu511Lys	0					GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	p.E511K	NM_001510.2	NP_001501.2	1	2	3	1.998139	O43424	GRID2_HUMAN		10	1789	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	1	1	hg19	c.1531G>A	CCDS3637.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.286897	0.95517	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.994;0.998	T	0.53373	-0.8448	10	0.87932	D	0	.	19.4969	0.95077	0.0:0.0:1.0:0.0	.	416;511	E9PH24;O43424	.;GRID2_HUMAN	K	511;416	ENSP00000282020:E511K;ENSP00000421257:E416K	ENSP00000282020:E511K	E	+	1	0	0	GRID2	94563128	94563128	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	9.864000	0.99589	2.611000	0.88343	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.533867	1	0.170000				51	49		205	199	1		1	0		0	0	51	0		1	0	0	0	0	1	0	51	205
GRID2	2895	broad.mit.edu	37	4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	764					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)			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)		ATTGGAAATACTGTTGCTGAT	0.393																																						ENST00000282020.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(2290-2292)aCt>aAt		glutamate receptor, ionotropic, delta 2							196.0	175.0	182.0					4																	94547517		2203	4300	6503	SO:0001583	missense	2895	1	121412	33				g.chr4:94547517C>A	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.2291C>A	chr4.hg19:g.94547517C>A	ENSP00000282020:p.Thr764Asn	0					GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	p.T764N	NM_001510.2	NP_001501.2	1	2	3	1.998139	O43424	GRID2_HUMAN		14	2549	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	1	1	hg19	c.2291C>A	CCDS3637.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.13	5.13	0.70059	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.088108	0.85682	D	0.000000	T	0.06645	0.0170	N	0.03154	-0.405	0.42195	D	0.991745	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	.	18.9243	0.92538	0.0:1.0:0.0:0.0	.	669;764	E9PH24;O43424	.;GRID2_HUMAN	N	764;669	ENSP00000282020:T764N;ENSP00000421257:T669N	ENSP00000282020:T764N	T	+	2	0	0	GRID2	94766540	94766540	0.991000	0.36638	0.539000	0.28077	0.966000	0.64601	2.961000	0.49168	2.542000	0.85734	0.484000	0.47621	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000				106	102		413	407	1		1			0	0	99	0		1	0	0	0	0	0	0	106	413
ATOH1	474	broad.mit.edu	37	4	94750764	94750764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	229					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647																																						ENST00000306011.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(685-687)gcC>gcT		atonal homolog 1 (Drosophila)							26.0	30.0	29.0					4																	94750764		2199	4292	6491	SO:0001819	synonymous_variant	474	0	0					g.chr4:94750764C>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.687C>T	chr4.hg19:g.94750764C>T		0						p.A229A	NM_005172.1	NP_005163.1	1	2	3	1.998139	Q92858	ATOH1_HUMAN		1	723	+		Hepatocellular(203;0.114)	Q14CT9	Silent	SNP	ENST00000306011.3	1	1	hg19	c.687C>T	CCDS3638.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_005172			85	84		321	309	1		1			0	0	50	0		1	0	0	0	0	0	0	85	321
SMARCAD1	56916	broad.mit.edu	37	4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	418					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)			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)		GATAACAGAACTCCGGCCCTT	0.383																																						ENST00000354268.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1252-1254)Ctc>Ttc		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							92.0	101.0	98.0					4																	95174129		2203	4300	6503	SO:0001583	missense	56916	0	0					g.chr4:95174129C>T	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.1252C>T	chr4.hg19:g.95174129C>T	ENSP00000346217:p.Leu418Phe	0					SMARCAD1_ENST00000509418.1_5'Flank|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F	p.L418F			1	2	3	1.998139	Q9H4L7	SMRCD_HUMAN		9	1325	+			B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	1	1	hg19	c.1252C>T	CCDS3639.1	1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310151	0.60414	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.89196	-2.48;-2.48;-2.47	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.44688	D	0.000424	D	0.92071	0.7487	M	0.69823	2.125	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.59889	0.668;0.865	D	0.89337	0.3651	10	0.14656	T	0.56	-7.8768	15.7026	0.77552	0.0:0.8632:0.1368:0.0	.	418;418	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	418	ENSP00000351947:L418F;ENSP00000415576:L418F;ENSP00000346217:L418F	ENSP00000346217:L418F	L	+	1	0	0	SMARCAD1	95393152	95393152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.582000	0.87167	0.655000	0.94253	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_020159			130	127		588	567	1		1	1		0	0	113	0		1	9.999881e-01	0	3	0	71	0	130	588
SMARCAD1	56916	broad.mit.edu	37	4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000354268.4	+	22	2962	c.2889C>A	c.(2887-2889)tgC>tgA	p.C963*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	963	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)			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)		AAGATAGATGCCATAGAGTAG	0.338																																						ENST00000354268.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999908	0.990000	1.000000																										0				44						c.(2887-2889)tgC>tgA		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							114.0	114.0	114.0					4																	95204434		2203	4300	6503	SO:0001587	stop_gained	56916	0	0					g.chr4:95204434C>A	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.2889C>A	chr4.hg19:g.95204434C>A	ENSP00000346217:p.Cys963*	0					SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*	p.C963*			1	2	3	1.998139	Q9H4L7	SMRCD_HUMAN		22	2962	+			B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	0	1	hg19	c.2889C>A	CCDS3639.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.211293	0.98706	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.48	3.72	0.42706	5.48	3.72	0.42706	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5904	8.1683	0.31239	0.0:0.7039:0.0:0.2961	.	.	.	.	X	965;965;963;533	.	ENSP00000346217:C963X	C	+	3	2	2	SMARCAD1	95423457	95423457	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.457000	0.21875	1.289000	0.44618	0.591000	0.81541	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	0	0	1		15	7	2	1		1	1	57		57	56	1	2.060000	-17.228070	1	0.170000	NM_020159			35	35		215	211	1		1	0		1	0	57	0		9.990227e-01	9.298169e-01	0	5	0	76	0	35	215
HPGDS	27306	broad.mit.edu	37	4	95220672	95220672	+	Missense_Mutation	SNP	C	C	T	rs76328980	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95220672C>T	ENST00000295256.5	-	6	649	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	187	GST C-terminal.			V -> I (in Ref. 2; no nucleotide entry). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CAGTTAGCGACGGCAGGAATG	0.468													T|||	72	0.014377	0.0424	0.0101	5008	,	,		17117	0.0		0.006	False		,,,				2504	0.0031				Colon(86;1802 1843 17863 46794)	ENST00000295256.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(559-561)Gtc>Atc		hematopoietic prostaglandin D synthase	Glutathione(DB00143)	T	ILE/VAL	203,4203	807.8+/-415.9	1,201,2001	135.0	123.0	127.0		559	5.7	1.0	4	dbSNP_131	127	47,8553	817.2+/-406.9	0,47,4253	yes	missense	HPGDS	NM_014485.2	29	1,248,6254	TT,TC,CC		0.5465,4.6074,1.9222	benign	187/200	95220672	250,12756	2203	4300	6503	SO:0001583	missense	27306	1013	121412	63				g.chr4:95220672C>T	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.559G>A	chr4.hg19:g.95220672C>T	ENSP00000295256:p.Val187Ile	0						p.V187I	NM_014485.2	NP_055300.1	1	2	3	1.998139	O60760	HPGDS_HUMAN		6	649	-			Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	1	0	hg19	c.559G>A	CCDS3640.1	1	30	0.013736263736263736	23	0.046747967479674794	5	0.013812154696132596	0	0.0	2	0.002638522427440633	T	4.640	0.118989	0.08881	0.046074	0.005465	ENSG00000163106	ENST00000295256	T	0.01527	4.8	5.73	5.73	0.89815	5.73	5.73	0.89815	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	N	0.000002	T	0.00144	0.0004	N	0.00427	-1.505	0.20074	N	0.999931	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	10	0.02654	T	1	.	11.1331	0.48358	0.0:0.072:0.0:0.928	.	187	O60760	HPGDS_HUMAN	I	187	ENSP00000295256:V187I	ENSP00000295256:V187I	V	-	1	0	0	HPGDS	95439695	95439695	1.000000	0.71417	0.953000	0.39169	0.460000	0.32559	3.540000	0.53611	1.005000	0.39183	-0.254000	0.11334	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	0	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.551633	1	0.170000	NM_014485			68	65		310	303	1		1	0		0	0	64	0		1	9.976369e-01	0	0	0	44	0	68	310
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	806					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522																																						ENST00000453304.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2416-2418)Ggg>Agg		unc-5 homolog C (C. elegans)							148.0	124.0	132.0					4																	96104083		2203	4300	6503	SO:0001583	missense	8633	0	0					g.chr4:96104083C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2416G>A	chr4.hg19:g.96104083C>T	ENSP00000406022:p.Gly806Arg	0						p.G806R	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		14	2764	-		Hepatocellular(203;0.114)	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	1	1	hg19	c.2416G>A	CCDS3643.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.156487	0.94686	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.50548	0.74	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56547	-0.7961	10	0.25106	T	0.35	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	806	O95185	UNC5C_HUMAN	R	806;765	ENSP00000406022:G806R	ENSP00000328673:G765R	G	-	1	0	0	UNC5C	96323106	96323106	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.792000	0.85828	2.770000	0.95276	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	0	0	1		2	2	2	1		1	0	106		106	102	1	2.060000	-3.248407	1	0.170000	NM_003728			97	97		378	370	1		1	0		1	0	106	0		1	1.098877e-01	0	0	0	3	0	97	378
UNC5C	8633	broad.mit.edu	37	4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458																																						ENST00000453304.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2224-2226)Cgc>Tgc		unc-5 homolog C (C. elegans)							117.0	117.0	117.0					4																	96106260		2203	4300	6503	SO:0001583	missense	8633	0	0					g.chr4:96106260G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2224C>T	chr4.hg19:g.96106260G>A	ENSP00000406022:p.Arg742Cys	0						p.R742C	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		13	2572	-		Hepatocellular(203;0.114)	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	1	1	hg19	c.2224C>T	CCDS3643.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132411	0.77662	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.104565	0.64402	D	0.000005	T	0.62624	0.2443	L	0.39467	1.215	0.80722	D	1	P;D	0.89917	0.548;1.0	B;D	0.85130	0.036;0.997	T	0.55224	-0.8174	10	0.33141	T	0.24	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	742;742	A8K385;O95185	.;UNC5C_HUMAN	C	742;701	ENSP00000406022:R742C	ENSP00000328673:R701C	R	-	1	0	0	UNC5C	96325283	96325283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.024000	0.64090	2.788000	0.95919	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-20.000000	1	0.170000	NM_003728			136	133		531	519	1		1	0		0	0	132	0		1	4.205352e-02	0	0	0	2	0	136	531
UNC5C	8633	broad.mit.edu	37	4	96140199	96140199	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000453304.1	-	9	1914	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_ENST00000506749.1_Silent_p.L541L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	522					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502																																						ENST00000453304.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1564-1566)ctA>ctG		unc-5 homolog C (C. elegans)							145.0	114.0	125.0					4																	96140199		2203	4300	6503	SO:0001819	synonymous_variant	8633	0	0					g.chr4:96140199T>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1566A>G	chr4.hg19:g.96140199T>C		0					UNC5C_ENST00000506749.1_Silent_p.L541L	p.L522L	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		9	1914	-		Hepatocellular(203;0.114)	Q8IUT0	Silent	SNP	ENST00000453304.1	1	1	hg19	c.1566A>G	CCDS3643.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_003728			83	81		359	352	1		1	0		0	0	93	0		1	3.613726e-02	0	0	0	2	0	83	359
UNC5C	8633	broad.mit.edu	37	4	96163599	96163599	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000453304.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000506749.1_Silent_p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	363	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517																																						ENST00000453304.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1087-1089)acT>acG		unc-5 homolog C (C. elegans)							64.0	55.0	58.0					4																	96163599		2203	4300	6503	SO:0001819	synonymous_variant	8633	0	0					g.chr4:96163599A>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1089T>G	chr4.hg19:g.96163599A>C		0					UNC5C_ENST00000506749.1_Silent_p.T363T	p.T363T	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		7	1437	-		Hepatocellular(203;0.114)	Q8IUT0	Silent	SNP	ENST00000453304.1	1	1	hg19	c.1089T>G	CCDS3643.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_003728			48	48		155	154	1		1	0		0	0	36	0		1	1.454595e-01	0	0	0	3	0	48	155
UNC5C	8633	broad.mit.edu	37	4	96163662	96163662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000453304.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000506749.1_Silent_p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	342	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557																																						ENST00000453304.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999789	0.990000	1.000000																										0				55						c.(1024-1026)gcG>gcA		unc-5 homolog C (C. elegans)							49.0	40.0	43.0					4																	96163662		2203	4300	6503	SO:0001819	synonymous_variant	8633	1	121412	30				g.chr4:96163662C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1026G>A	chr4.hg19:g.96163662C>T		0					UNC5C_ENST00000506749.1_Silent_p.A342A	p.A342A	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		7	1374	-		Hepatocellular(203;0.114)	Q8IUT0	Silent	SNP	ENST00000453304.1	1	1	hg19	c.1026G>A	CCDS3643.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_003728			20	20		101	100	1		1	0		0	0	20	0		9.999972e-01	2.980645e-02	0	0	0	2	0	20	101
UNC5C	8633	broad.mit.edu	37	4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000453304.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	336	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587																																						ENST00000453304.1	1.000000	0.900000	1	9.900000e-01	0.990000	0.994418	0.990000	1.000000																										0				55						c.(1006-1008)Cgc>Tgc		unc-5 homolog C (C. elegans)							41.0	34.0	36.0					4																	96163682		2203	4300	6503	SO:0001583	missense	8633	1	121404	25				g.chr4:96163682G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1006C>T	chr4.hg19:g.96163682G>A	ENSP00000406022:p.Arg336Cys	0					UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	p.R336C	NM_003728.3	NP_003719.3	1	2	3	1.998139	O95185	UNC5C_HUMAN		7	1354	-		Hepatocellular(203;0.114)	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	0	1	hg19	c.1006C>T	CCDS3643.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345295	0.82022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.78924	-1.22;-1.22;-1.22	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96276	0.9202	10	0.87932	D	0	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	336;336;336	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	336;295;336;336	ENSP00000406022:R336C;ENSP00000426924:R336C;ENSP00000426153:R336C	ENSP00000328673:R295C	R	-	1	0	0	UNC5C	96382705	96382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.805000	0.96524	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-19.986410	1	0.170000	NM_003728			13	13		83	83	1		1	0		0	0	21	0		9.996360e-01	1.020702e-01	0	0	0	4	0	13	83
PDHA2	5161	broad.mit.edu	37	4	96761415	96761415	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	38					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)			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)		AAATTAAGAAATGTGATCTTT	0.507																																						ENST00000295266.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				46						c.(112-114)aaA>aaG		pyruvate dehydrogenase (lipoamide) alpha 2							56.0	57.0	57.0					4																	96761415		2203	4300	6503	SO:0001819	synonymous_variant	5161	0	0					g.chr4:96761415A>G		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.114A>G	chr4.hg19:g.96761415A>G		0						p.K38K	NM_005390.4	NP_005381.1	1	2	3	1.998139	P29803	ODPAT_HUMAN		1	177	+		Hepatocellular(203;0.114)	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	1	1	hg19	c.114A>G	CCDS3644.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000				38	36		181	179	1		1			0	0	40	0		1	0	0	0	0	0	0	38	181
RAP1GDS1	5910	broad.mit.edu	37	4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S	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	33					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)			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)		TCTGCTTCAAGCCCTGGCTCA	0.358			T	NUP98	T-ALL																																	ENST00000408927.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000				Dom	yes			Dom	yes		4	4q21-q25	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""				L	L	NUP98		T-ALL		0				28						c.(97-99)Gcc>Tcc		RAP1, GTP-GDP dissociation stimulator 1							71.0	65.0	66.0					4																	99214651		1846	4088	5934	SO:0001583	missense	5910	0	0					g.chr4:99214651G>T		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.97G>T	chr4.hg19:g.99214651G>T	ENSP00000386153:p.Ala33Ser	0					RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S	p.A33S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	1	2	3	1.998139	P52306	GDS1_HUMAN		2	210	+			E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	1	1	hg19	c.97G>T	CCDS43253.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052140	0.75960	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.52295	1.58;1.43;1.55;0.67;1.43;1.28;1.43;0.74;1.43;1.44	5.6	4.75	0.60458	5.6	4.75	0.60458	Armadillo-like helical (1);	0.132185	0.48767	N	0.000170	T	0.59770	0.2218	L	0.56769	1.78	0.46874	D	0.999235	P;D;D;D;P;P;P	0.76494	0.869;0.996;0.994;0.999;0.822;0.824;0.822	P;D;D;D;P;B;P	0.78314	0.542;0.987;0.97;0.991;0.7;0.348;0.7	T	0.57705	-0.7765	10	0.07990	T	0.79	-0.798	13.7348	0.62811	0.0:0.0:0.8455:0.1544	.	34;33;34;33;34;34;33	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	S	33;34;34;33;33;33;34;34;33;34	ENSP00000425992:A33S;ENSP00000369503:A34S;ENSP00000264572:A34S;ENSP00000426096:A33S;ENSP00000386153:A33S;ENSP00000424324:A33S;ENSP00000407157:A34S;ENSP00000421599:A34S;ENSP00000386223:A33S;ENSP00000340454:A34S	ENSP00000264572:A34S	A	+	1	0	0	RAP1GDS1	99433674	99433674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	1.328000	0.45358	0.557000	0.71058	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	1	0	1		2	2	2	0		0	0	31		31	33	1	2.060000	-20.000000	1	0.170000	NM_001100426			27	27		117	115	1		1	1		0	0	31	0		1	9.999964e-01	0	17	0	76	0	27	117
EIF4E	1977	broad.mit.edu	37	4	99823032	99823032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99823032C>T	ENST00000450253.2	-	2	1644	c.120G>A	c.(118-120)caG>caA	p.Q40Q	EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000505992.1_Silent_p.Q40Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	40	EIF4EBP1/2/3 binding.				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)		CTTACCTGTTCTGTAGGGGAT	0.423																																						ENST00000450253.2	1.000000	0.100000	2.800000e-01	1.400000e-01	0.190000	0.248215	0.190000	0.190000																										0				13						c.(118-120)caG>caA		eukaryotic translation initiation factor 4E							138.0	133.0	135.0					4																	99823032		2203	4300	6503	SO:0001819	synonymous_variant	1977	0	0					g.chr4:99823032C>T	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.120G>A	chr4.hg19:g.99823032C>T		0					EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000504472.1_5'UTR	p.Q40Q	NM_001968.3	NP_001959.1	1	2	3	1.998139	P06730	IF4E_HUMAN		2	1644	-			B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	0	1	hg19	c.120G>A	CCDS34031.1	0	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686326	0.14973	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	4.15	0.48705	5.85	4.15	0.48705	.	.	.	.	.	T	0.59756	0.2217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56044	-0.8044	4	.	.	.	-15.0647	9.6323	0.39787	0.0:0.7397:0.0:0.2603	.	.	.	.	K	37	.	.	E	-	1	0	0	EIF4E	100042055	100042055	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.518000	0.22847	0.948000	0.37687	0.643000	0.83706	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	0	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-2.479700	0	0.170000	NM_001968			11	11		679	668	0		1	1		0	0	125	0		9.981911e-01	7.875301e-01	0	5	0	176	0	11	679
METAP1	23173	broad.mit.edu	37	4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	280					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGAAGCATGCCCAAGCAAAT	0.398																																						ENST00000296411.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(838-840)gCc>gTc		methionyl aminopeptidase 1							183.0	174.0	177.0					4																	99969935		1877	4104	5981	SO:0001583	missense	23173	0	0					g.chr4:99969935C>T	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.839C>T	chr4.hg19:g.99969935C>T	ENSP00000296411:p.Ala280Val	0					METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	p.A280V	NM_015143.2	NP_055958.2	1	2	3	1.998139	P53582	MAP11_HUMAN		9	973	+			B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	1	1	hg19	c.839C>T	CCDS47110.1	1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676809	0.67928	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.77750	-1.12;-1.12;-1.12	4.4	4.4	0.53042	4.4	4.4	0.53042	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.46567	1.45	0.80722	D	1	P	0.51653	0.947	P	0.55824	0.785	T	0.80301	-0.1440	9	.	.	.	-12.0974	17.5417	0.87850	0.0:1.0:0.0:0.0	.	280	P53582	AMPM1_HUMAN	V	280;230;64	ENSP00000296411:A280V;ENSP00000440993:A230V;ENSP00000423071:A64V	.	A	+	2	0	0	METAP1	100188958	100188958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.440000	0.82611	0.585000	0.79938	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_015143			110	106		388	379	1		1	1		0	0	104	0		1	1	0	40	0	146	0	110	388
ADH5	128	broad.mit.edu	37	4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GGTTGAAATGCCACAACCTAG	0.418																																						ENST00000296412.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				13						c.(523-525)gGc>gAc		alcohol dehydrogenase 5 (class III), chi polypeptide							73.0	67.0	69.0					4																	99997895		1896	4126	6022	SO:0001583	missense	128	0	0					g.chr4:99997895C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.524G>A	chr4.hg19:g.99997895C>T	ENSP00000296412:p.Gly175Asp	0					ADH5_ENST00000512991.1_5'UTR	p.G175D	NM_000671.3	NP_000662.3	1	2	3	1.998139				5	574	-				Missense_Mutation	SNP	ENST00000296412.8	1	1	hg19	c.524G>A	CCDS47111.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617379	0.87359	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.23348	1.91;1.91	5.1	4.26	0.50523	5.1	4.26	0.50523	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.99815	4.805	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	0.85057	0.0932	9	.	.	.	-18.4869	14.0279	0.64597	0.0:0.9276:0.0:0.0724	.	175;175;175	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	175;162	ENSP00000296412:G175D;ENSP00000427049:G162D	.	G	-	2	0	0	ADH5	100216918	100216918	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	3.157000	0.50716	1.535000	0.49220	0.650000	0.86243	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-14.366760	1	0.170000	NM_000671			25	24		136	132	1		1	1		0	0	27	0		9.999999e-01	1	0	150	0	627	0	25	136
ADH5	128	broad.mit.edu	37	4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TCTGCTGGTACCATCTGGCAT	0.368																																						ENST00000296412.8	1.000000	0.470000	1	6.800000e-01	0.960000	0.875729	0.960000	1.000000																										0				13						c.(376-378)gGt>gAt		alcohol dehydrogenase 5 (class III), chi polypeptide							36.0	34.0	34.0					4																	99998042		1844	4077	5921	SO:0001583	missense	128	0	0					g.chr4:99998042C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.377G>A	chr4.hg19:g.99998042C>T	ENSP00000296412:p.Gly126Asp	0					ADH5_ENST00000512991.1_5'UTR	p.G126D	NM_000671.3	NP_000662.3	1	2	3	1.998139				5	427	-				Missense_Mutation	SNP	ENST00000296412.8	0	1	hg19	c.377G>A	CCDS47111.1	1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413953	0.62511	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03717	3.83;3.83	5.2	4.28	0.50868	5.2	4.28	0.50868	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.498508	0.24988	N	0.034012	T	0.15176	0.0366	M	0.88906	2.99	0.58432	D	0.999993	P;P;P	0.43519	0.809;0.809;0.809	P;P;P	0.50825	0.651;0.651;0.651	T	0.00206	-1.1921	9	.	.	.	.	14.3347	0.66581	0.0:0.9184:0.0:0.0816	.	126;126;126	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	126;113	ENSP00000296412:G126D;ENSP00000427049:G113D	.	G	-	2	0	0	ADH5	100217065	100217065	0.002000	0.14202	0.992000	0.48379	0.995000	0.86356	0.281000	0.18810	2.716000	0.92895	0.650000	0.86243	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-14.249640	1	0.170000	NM_000671			9	9		106	101	0		1	1		0	0	14	0		9.936505e-01	9.999994e-01	0	24	0	448	0	9	106
TRIML1	339976	broad.mit.edu	37	4	189067986	189067986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	289	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGGAGATAACGCTGGACCCAG	0.473																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3	1.000000	0.830000	9.900000e-01	9.000000e-01	0.950000	0.949409	0.950000	0.990000																										0				60						c.(865-867)acG>acA		tripartite motif family-like 1							142.0	145.0	144.0					4																	189067986		2203	4300	6503	SO:0001819	synonymous_variant	339976	1	112232	38				g.chr4:189067986G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.867G>A	chr4.hg19:g.189067986G>A		1					TRIML1_ENST00000507581.1_3'UTR	p.T289T	NM_178556.3	NP_848651.2	0	1	1	1.777321	Q8N9V2	TRIML_HUMAN		6	1007	+		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)	Q96BE5	Silent	SNP	ENST00000332517.3	1	1	hg19	c.867G>A	CCDS3851.1	1																																																																																								9.289617e-02		TCGA-IB-7651-01A-11D-2154-08	0.473	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	1	0	1		2	2	2	0		0	0	225		225	222	1	2.060000	-20.000000	1	0.170000	NM_178556			98	98		872	850	1		1			0	0	225	0		1	0	0	0	0	0	0	98	872
ST8SIA4	7903	broad.mit.edu	37	5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	264					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403																																						ENST00000231461.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(790-792)gTc>gGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							103.0	92.0	96.0					5																	100191813		2203	4300	6503	SO:0001583	missense	7903	0	0					g.chr5:100191813A>C	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.791T>G	chr5.hg19:g.100191813A>C	ENSP00000231461:p.Val264Gly	0						p.V264G	NM_005668.4	NP_005659.1	1	2	3	2.006602	Q92187	SIA8D_HUMAN		4	1101	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	1	1	hg19	c.791T>G	CCDS4091.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027304	0.75390	.	.	ENSG00000113532	ENST00000231461	T	0.36157	1.27	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.89353	3.025	0.80722	D	1	D	0.63880	0.993	P	0.62813	0.907	T	0.71613	-0.4540	10	0.72032	D	0.01	-8.3466	14.6008	0.68441	1.0:0.0:0.0:0.0	.	264	Q92187	SIA8D_HUMAN	G	264	ENSP00000231461:V264G	ENSP00000231461:V264G	V	-	2	0	0	ST8SIA4	100219712	100219712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	GTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_005668			53	53		242	241	1		1	0		0	0	73	0		1	9.998377e-01	0	0	0	62	0	53	242
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											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)		GTTTTCCTTTCAATACAGGAA	0.299																																						ENST00000310954.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1645-1647)Gaa>Aaa		solute carrier organic anion transporter family, member 4C1							74.0	81.0	79.0					5																	101583122		2203	4300	6503	SO:0001583	missense	353189	0	0					g.chr5:101583122C>T	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.1645G>A	chr5.hg19:g.101583122C>T	ENSP00000309741:p.Glu549Lys	0						p.E549K	NM_180991.4	NP_851322.3	1	2	3	2.006602				10	1931	-		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)		Missense_Mutation	SNP	ENST00000310954.6	1	1	hg19	c.1645G>A	CCDS34205.1	1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006002	0.07866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.29	0.74685	6.17	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.549817	0.18733	N	0.132698	T	0.23054	0.0557	N	0.12961	0.28	0.37272	D	0.907466	B	0.02656	0.0	B	0.11329	0.006	T	0.11665	-1.0578	10	0.06757	T	0.87	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	549	Q6ZQN7	SO4C1_HUMAN	K	549	ENSP00000309741:E549K	ENSP00000309741:E549K	E	-	1	0	0	SLCO4C1	101611021	101611021	0.927000	0.31430	0.846000	0.33378	0.157000	0.22087	1.816000	0.38992	1.586000	0.49944	0.655000	0.94253	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_180991			95	93		399	394	1		1	0		0	0	78	0		1	3.777504e-02	0	0	0	2	0	95	399
SLCO4C1	353189	broad.mit.edu	37	5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											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)		AGACAAGCGGCGCAGGATGTC	0.572																																						ENST00000310954.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(61-63)cGc>cAc		solute carrier organic anion transporter family, member 4C1							71.0	80.0	77.0					5																	101631905		2203	4300	6503	SO:0001583	missense	353189	0	0					g.chr5:101631905C>T	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.62G>A	chr5.hg19:g.101631905C>T	ENSP00000309741:p.Arg21His	0						p.R21H	NM_180991.4	NP_851322.3	1	2	3	2.006602				1	348	-		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)		Missense_Mutation	SNP	ENST00000310954.6	1	1	hg19	c.62G>A	CCDS34205.1	1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734184	0.15574	.	.	ENSG00000173930	ENST00000310954	T	0.46451	0.87	4.11	2.32	0.28847	4.11	2.32	0.28847	.	2.458350	0.01476	N	0.016471	T	0.35970	0.0950	L	0.42245	1.32	0.21386	N	0.999706	B	0.29432	0.244	B	0.18561	0.022	T	0.19031	-1.0318	10	0.48119	T	0.1	.	6.0552	0.19807	0.0:0.7624:0.0:0.2376	.	21	Q6ZQN7	SO4C1_HUMAN	H	21	ENSP00000309741:R21H	ENSP00000309741:R21H	R	-	2	0	0	SLCO4C1	101659804	101659804	0.640000	0.27243	0.793000	0.32043	0.076000	0.17211	0.117000	0.15583	0.379000	0.24794	0.591000	0.81541	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_180991			60	60		274	270	1		1			0	0	53	0		1	0	0	0	0	0	0	60	274
SLCO6A1	133482	broad.mit.edu	37	5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	104	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537																																						ENST00000506729.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(310-312)aAc>aGc		solute carrier organic anion transporter family, member 6A1							91.0	90.0	91.0					5																	101834238		2203	4300	6503	SO:0001583	missense	133482	0	0					g.chr5:101834238T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.311A>G	chr5.hg19:g.101834238T>C	ENSP00000421339:p.Asn104Ser	0					SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S	p.N104S			1	2	3	2.006602	Q86UG4	SO6A1_HUMAN		1	482	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	1	1	hg19	c.311A>G	CCDS34206.1	1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999617	0.35320	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46819	0.93;0.93;0.95;0.86;0.86	3.52	-0.11	0.13580	3.52	-0.11	0.13580	.	0.406962	0.21428	N	0.074706	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	1	D;P;D	0.65815	0.995;0.799;0.968	D;B;P	0.66716	0.946;0.12;0.507	T	0.32134	-0.9918	10	0.48119	T	0.1	.	5.7854	0.18331	0.0:0.3383:0.0:0.6617	.	104;104;104	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	104	ENSP00000421339:N104S;ENSP00000369135:N104S;ENSP00000373671:N104S;ENSP00000421990:N104S;ENSP00000369138:N104S	ENSP00000369135:N104S	N	-	2	0	0	SLCO6A1	101862137	101862137	0.001000	0.12720	0.010000	0.14722	0.051000	0.14879	-0.108000	0.10857	-0.017000	0.14103	0.397000	0.26171	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_173488			90	87		422	419	1		1			0	0	93	0		1	0	0	0	0	0	0	90	422
PAM	5066	broad.mit.edu	37	5	102295657	102295657	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.T328T	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	328	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			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)	CTTTCATGACCTGTACCCAGA	0.408																																						ENST00000438793.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(982-984)acC>acA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						152.0	137.0	142.0					5																	102295657		2203	4300	6503	SO:0001819	synonymous_variant	5066	0	0					g.chr5:102295657C>A	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.984C>A	chr5.hg19:g.102295657C>A		0					PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000455264.2_Silent_p.T328T	p.T328T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	1	2	3	2.006602	P19021	AMD_HUMAN		12	1454	+		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)	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	1	1	hg19	c.984C>A	CCDS54885.1	1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143010	0.21205	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	2.75	0.32379	5.58	2.75	0.32379	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	3.1965	0.06635	0.1252:0.5677:0.1214:0.1858	.	.	.	.	M	101	.	.	L	+	1	2	2	PAM	102323556	102323556	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	0.210000	0.17455	0.733000	0.32492	0.460000	0.39030	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.238463	1	0.170000	NM_000919			89	88		369	364	1		1	1		0	0	92	0		1	1	0	54	0	434	0	89	369
PAM	5066	broad.mit.edu	37	5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V	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)			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)	TGTATTTGCAATTTCATATAT	0.333																																						ENST00000438793.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2200-2202)Att>Gtt		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						81.0	85.0	84.0					5																	102343346		2203	4300	6503	SO:0001583	missense	5066	0	0					g.chr5:102343346A>G	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.2200A>G	chr5.hg19:g.102343346A>G	ENSP00000396493:p.Ile734Val	0					PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V	p.I734V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	1	2	3	2.006602	P19021	AMD_HUMAN		19	2670	+		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)	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	1	1	hg19	c.2200A>G	CCDS54885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.315|7.315	0.615794|0.615794	0.14129|0.14129	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	D;D;D;T;D;D;D|.	0.89485|.	-2.52;-2.52;-2.52;0.61;-2.52;-2.52;-2.52|.	5.28|5.28	5.28|5.28	0.74379|0.74379	5.28|5.28	5.28|5.28	0.74379|0.74379	Six-bladed beta-propeller, TolB-like (1);|.	0.097209|.	0.64402|.	D|.	0.000001|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.05306|0.05306	-0.075|-0.075	0.45634|0.45634	D|D	0.998561|0.998561	B;B;B;B;B;B|.	0.14805|.	0.003;0.006;0.003;0.004;0.011;0.011|.	B;B;B;B;B;B|.	0.22880|.	0.042;0.019;0.042;0.01;0.042;0.042|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.02654|.	T|.	1|.	.|.	7.4511|7.4511	0.27240|0.27240	0.838:0.0:0.162:0.0|0.838:0.0:0.162:0.0	.|.	637;734;734;734;734;627|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	V|S	734;734;627;114;734;637;734|506	ENSP00000396493:I734V;ENSP00000282992:I734V;ENSP00000314638:I627V;ENSP00000369113:I114V;ENSP00000306100:I734V;ENSP00000274392:I637V;ENSP00000403461:I734V|.	ENSP00000274392:I637V|.	I|N	+|+	1|2	0|0	0|0	PAM|PAM	102371245|102371245	102371245|102371245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.422000|3.422000	0.52749|0.52749	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATT|AAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_000919			47	46		169	168	1		1	1		0	0	30	0		1	1	0	93	0	550	0	47	169
FAM173B	134145	broad.mit.edu	37	5	10236629	10236629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	135						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413																																						ENST00000511437.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				16						c.(403-405)gtG>gtA		family with sequence similarity 173, member B							84.0	82.0	83.0					5																	10236629		1861	4112	5973	SO:0001819	synonymous_variant	134145	0	0					g.chr5:10236629C>T		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.405G>A	chr5.hg19:g.10236629C>T		0					FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR	p.V135V	NM_199133.3	NP_954584.2	0	0	0	1.967783	Q6P4H8	F173B_HUMAN		3	417	-			B4DT41|B4DXK2|E9PBZ4	Silent	SNP	ENST00000511437.1	1	1	hg19	c.405G>A	CCDS43301.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	1	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_199133			57	56		330	319	1		1	1		0	0	59	0		1	9.663813e-01	0	6	0	28	0	57	330
FAM173B	134145	broad.mit.edu	37	5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	25						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463																																						ENST00000511437.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(73-75)Agt>Cgt		family with sequence similarity 173, member B							107.0	112.0	110.0					5																	10239412		1907	4118	6025	SO:0001583	missense	134145	0	0					g.chr5:10239412T>G		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.73A>C	chr5.hg19:g.10239412T>G	ENSP00000422338:p.Ser25Arg	0					FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	p.S25R	NM_199133.3	NP_954584.2	0	0	0	1.967783	Q6P4H8	F173B_HUMAN		2	85	-			B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	1	1	hg19	c.73A>C	CCDS43301.1	1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616075	0.28801	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19669	2.13;2.16	5.19	1.41	0.22369	5.19	1.41	0.22369	.	1.081510	0.06847	N	0.796684	T	0.20047	0.0482	M	0.61703	1.905	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.004;0.005	T	0.35475	-0.9787	10	0.26408	T	0.33	-6.5071	3.1427	0.06461	0.2791:0.2294:0.0:0.4915	.	25;25	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	25	ENSP00000422338:S25R;ENSP00000420876:S25R	ENSP00000424210:S25R	S	-	1	0	0	FAM173B	10292412	10292412	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.040000	0.13905	0.012000	0.14892	0.533000	0.62120	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	0	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_199133			106	106		425	420	1		1	1		0	0	103	0		1	9.795626e-01	0	7	0	20	0	106	425
CCT5	22948	broad.mit.edu	37	5	10250488	10250488	+	Silent	SNP	T	T	C	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000506600.1_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA|FAM173B_ENST00000510047.1_5'Flank|FAM173B_ENST00000280330.8_5'Flank|CCT5_ENST00000515676.1_5'Flank|FAM173B_ENST00000510052.1_5'Flank|FAM173B_ENST00000511437.1_5'Flank|CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000503026.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	12					'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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592																																						ENST00000280326.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				26						c.(34-36)taT>taC		chaperonin containing TCP1, subunit 5 (epsilon)		T		1,4405	2.1+/-5.4	0,1,2202	81.0	63.0	69.0		36	5.4	1.0	5	dbSNP_132	69	0,8600		0,0,4300	no	coding-synonymous	CCT5	NM_012073.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		12/542	10250488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22948	2	121408	31				g.chr5:10250488T>C	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.36T>C	chr5.hg19:g.10250488T>C		0					CCT5_ENST00000515676.1_5'Flank|FAM173B_ENST00000510047.1_5'Flank|CCT5_ENST00000503026.1_Intron|FAM173B_ENST00000510052.1_5'Flank|CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000280330.8_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA|CCT5_ENST00000515390.1_Silent_p.Y12Y|FAM173B_ENST00000511437.1_5'Flank	p.Y12Y	NM_012073.3	NP_036205.1	0	0	0	1.967783	P48643	TCPE_HUMAN		1	456	+			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	1	1	hg19	c.36T>C	CCDS3877.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1		2	2	2	0		0	0	63		63	60	1	2.060000	-20.000000	1	0.170000				35	35		206	202	1		1	1		0	0	63	0		1	1	0	107	0	249	0	35	206
CCT5	22948	broad.mit.edu	37	5	10256191	10256191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000503026.1_Silent_p.S131S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	152					'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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483																																						ENST00000280326.4	1.000000	0.700000	1	9.100000e-01	0.990000	0.966033	0.990000	1.000000																										0				26						c.(454-456)agC>agT		chaperonin containing TCP1, subunit 5 (epsilon)							98.0	75.0	83.0					5																	10256191		2203	4300	6503	SO:0001819	synonymous_variant	22948	0	0					g.chr5:10256191C>T	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.456C>T	chr5.hg19:g.10256191C>T		0					CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000503026.1_Silent_p.S131S|CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515390.1_Silent_p.S97S	p.S152S	NM_012073.3	NP_036205.1	0	0	0	1.967783	P48643	TCPE_HUMAN		4	876	+			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	1	1	hg19	c.456C>T	CCDS3877.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.319273	1	0.170000				15	15		131	127	1		1	1		0	0	50	0		9.998775e-01	1	0	162	0	483	0	15	131
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383																																						ENST00000280326.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(838-840)taC>taT		chaperonin containing TCP1, subunit 5 (epsilon)							89.0	85.0	86.0					5																	10258614		2203	4300	6503	SO:0001819	synonymous_variant	22948	0	0					g.chr5:10258614C>T	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.840C>T	chr5.hg19:g.10258614C>T		0					CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000503026.1_Silent_p.Y259Y|CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y	p.Y280Y	NM_012073.3	NP_036205.1	0	0	0	1.967783	P48643	TCPE_HUMAN		6	1260	+			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	1	1	hg19	c.840C>T	CCDS3877.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				63	62		353	342	1		1	1		0	0	76	0		1	1	0	196	0	580	0	63	353
CCT5	22948	broad.mit.edu	37	5	10261800	10261800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000503026.1_Silent_p.I353I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	374					'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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433																																						ENST00000280326.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1120-1122)atC>atT		chaperonin containing TCP1, subunit 5 (epsilon)							123.0	130.0	128.0					5																	10261800		2203	4300	6503	SO:0001819	synonymous_variant	22948	1	121412	33				g.chr5:10261800C>T	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.1122C>T	chr5.hg19:g.10261800C>T		0					CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000503026.1_Silent_p.I353I|CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515390.1_Silent_p.I319I|CTD-2256P15.4_ENST00000606194.1_RNA	p.I374I	NM_012073.3	NP_036205.1	0	0	0	1.967783	P48643	TCPE_HUMAN		8	1542	+			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	1	1	hg19	c.1122C>T	CCDS3877.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1		2	2	2	0		0	0	192		192	192	1	2.060000	-3.085238	1	0.170000				155	153		741	723	1		1	1		0	0	192	0		1	1	0	216	0	583	0	155	741
PAM	5066	broad.mit.edu	37	5	102364643	102364643	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000379787.4_Silent_p.G294G|PAM_ENST00000304400.7_Silent_p.G933G	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	932	Interaction with RASSF9. {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)			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)	GCCGTAAGGGCTACAGTCGAA	0.448																																						ENST00000438793.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(2794-2796)ggC>ggA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						114.0	112.0	113.0					5																	102364643		2203	4300	6503	SO:0001819	synonymous_variant	5066	0	0					g.chr5:102364643C>A	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.2796C>A	chr5.hg19:g.102364643C>A		0					PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000379787.4_Silent_p.G294G|PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000455264.2_Silent_p.G864G	p.G932G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	1	2	3	2.006602	P19021	AMD_HUMAN		25	3266	+		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)	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	1	1	hg19	c.2796C>A	CCDS54885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.725|3.725	-0.056777|-0.056777	0.07362|0.07362	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.03|6.03	0.07|0.07	0.14376|0.14376	6.03|6.03	0.07|0.07	0.14376|0.14376	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42749|0.42749	-0.9433|-0.9433	4|4	.|.	.|.	.|.	.|.	7.9509|7.9509	0.30014|0.30014	0.0959:0.5577:0.0:0.3464|0.0959:0.5577:0.0:0.3464	.|.	.|.	.|.	.|.	D|I	209|638	.|.	.|.	A|L	+|+	2|1	0|2	0|2	PAM|PAM	102392542|102392542	102392542|102392542	0.988000|0.988000	0.35896|0.35896	0.976000|0.976000	0.42696|0.42696	0.733000|0.733000	0.41908|0.41908	0.278000|0.278000	0.18753|0.18753	-0.258000|-0.258000	0.09446|0.09446	-0.797000|-0.797000	0.03246|0.03246	GCT|CTA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1		2	2	2	0		0	0	54		54	50	1	2.060000	-3.249642	1	0.170000	NM_000919			53	52		268	250	1		1	1		0	0	54	0		1	1	0	122	0	702	0	53	268
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Silent_p.T174T	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617																																						ENST00000296849.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999832	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T174T(1)	breast(1)	14						c.(520-522)acC>acT		naked cuticle homolog 2 (Drosophila)							65.0	50.0	55.0					5																	1034966		2200	4294	6494	SO:0001819	synonymous_variant	85409	1	121012	30				g.chr5:1034966C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.522C>T	chr5.hg19:g.1034966C>T		0					NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T	p.T174T	NM_033120.3	NP_149111.1	0	0	0	1.967783	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)	7	751	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	1	1	hg19	c.522C>T	CCDS3859.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-3.154368	1	0.170000	NM_033120			24	23		121	120	1		1	0		0	0	37	0		9.999998e-01	9.919677e-01	0	0	0	42	0	24	121
SLC12A7	10723	broad.mit.edu	37	5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1069					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)			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)	CTGACCAGGAGGACTCTGTTC	0.582																																						ENST00000264930.5	1.000000	0.730000	1	8.400000e-01	0.960000	0.937751	0.960000	1.000000																										0				32						c.(3205-3207)Ctc>Atc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						105.0	102.0	103.0					5																	1052522		2203	4299	6502	SO:0001583	missense	10723	0	0					g.chr5:1052522G>T	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.3205C>A	chr5.hg19:g.1052522G>T	ENSP00000264930:p.Leu1069Ile	0						p.L1069I	NM_006598.2	NP_006589.2	0	0	0	1.967783	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	24	3248	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	1	1	hg19	c.3205C>A	CCDS34129.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000113504	ENST00000264930	T	0.57107	0.42	3.88	3.0	0.34707	3.88	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.53594	0.1806	M	0.73430	2.235	0.46725	D	0.999177	P	0.41947	0.766	P	0.46144	0.505	T	0.50533	-0.8817	10	0.40728	T	0.16	.	5.193	0.15220	0.1123:0.0:0.6865:0.2012	.	1069	Q9Y666	S12A7_HUMAN	I	1069	ENSP00000264930:L1069I	ENSP00000264930:L1069I	L	-	1	0	0	SLC12A7	1105522	1105522	1.000000	0.71417	0.484000	0.27391	0.990000	0.78478	5.150000	0.64869	0.747000	0.32809	0.491000	0.48974	CTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	0		2	2	2	0		0	0	126		126	121	1	2.060000	-13.775560	1	0.170000	NM_006598			54	51		590	577	1		1	1		0	0	126	0		1	9.999993e-01	0	39	0	183	0	54	590
SLC12A7	10723	broad.mit.edu	37	5	1052541	1052541	+	Silent	SNP	G	G	A	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1062					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)			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)	TCAGCCCCTCGGTCAGGACTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20197	0.001		0.0	False		,,,				2504	0.0					ENST00000264930.5	0.940000	0.490000	8.300000e-01	5.900000e-01	0.700000	0.714869	0.700000	0.700000																										0				32						c.(3184-3186)acC>acT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		0,4406		0,0,2203	93.0	91.0	92.0		3186	-7.8	0.8	5	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1062/1084	1052541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10723	7	121408	43				g.chr5:1052541G>A	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.3186C>T	chr5.hg19:g.1052541G>A		0						p.T1062T	NM_006598.2	NP_006589.2	0	0	0	1.967783	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	24	3229	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	1	1	hg19	c.3186C>T	CCDS34129.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	0		2	2	2	0		0	0	104		104	102	1	2.060000	-2.559088	1	0.170000	NM_006598			33	33		510	495	0		1	1		0	0	104	0		1	9.999530e-01	0	36	0	196	0	33	510
SLC12A7	10723	broad.mit.edu	37	5	1064240	1064240	+	Silent	SNP	G	G	A	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	ENST00000264930.5	-	19	2608	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	855					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)			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)	TGAGCATGCCGCCGTCGTGCA	0.687													G|||	6	0.00119808	0.0	0.0014	5008	,	,		10000	0.0		0.003	False		,,,				2504	0.002					ENST00000264930.5	1.000000	0.360000	8.700000e-01	5.000000e-01	0.660000	0.686116	0.660000	1.000000																										0				32						c.(2563-2565)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4398	4.2+/-10.8	0,2,2198	43.0	38.0	40.0		2565	-2.2	1.0	5	dbSNP_134	40	8,8578	6.4+/-24.3	0,8,4285	no	coding-synonymous	SLC12A7	NM_006598.2		0,10,6483	AA,AG,GG		0.0932,0.0455,0.077		855/1084	1064240	10,12976	2200	4293	6493	SO:0001819	synonymous_variant	10723	161	120800	51				g.chr5:1064240G>A	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.2565C>T	chr5.hg19:g.1064240G>A		0					MIR4635_ENST00000583759.1_RNA	p.G855G	NM_006598.2	NP_006589.2	0	0	0	1.967783	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	19	2608	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	1	0	hg19	c.2565C>T	CCDS34129.1	0	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.483	0.860238	0.17178	4.55E-4	9.32E-4	ENSG00000113504	ENST00000513223	.	.	.	4.26	-2.24	0.06909	4.26	-2.24	0.06909	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	.	2.4554	0.04528	0.1945:0.1736:0.4441:0.1878	.	.	.	.	W	213	.	.	R	-	1	2	2	SLC12A7	1117240	1117240	0.189000	0.23263	0.999000	0.59377	0.657000	0.38888	-0.799000	0.04560	-0.046000	0.13446	0.313000	0.20887	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-10.733150	1	0.170000	NM_006598			12	12		198	194	0		1	1		0	0	31	0		9.990993e-01	9.995738e-01	0	24	0	208	0	12	198
MARCH6	10299	broad.mit.edu	37	5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	238					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)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557																																						ENST00000274140.5	1.000000	0.350000	8.600000e-01	4.800000e-01	0.650000	0.673548	0.650000	1.000000																										0				54						c.(712-714)gaG>gaT		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							135.0	101.0	112.0					5																	10391791		2203	4300	6503	SO:0001583	missense	10299	0	0					g.chr5:10391791G>T	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.714G>T	chr5.hg19:g.10391791G>T	ENSP00000274140:p.Glu238Asp	0					MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D|MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D	p.E238D	NM_005885.3	NP_005876.2	0	0	0	1.967783	O60337	MARH6_HUMAN		7	846	+			A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	1	1	hg19	c.714G>T	CCDS34135.1	0	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657716	0.29425	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.84;0.83;1.82	6.02	0.565	0.17309	6.02	0.565	0.17309	.	0.147552	0.64402	N	0.000012	T	0.17238	0.0414	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.06041	-1.0849	10	0.12430	T	0.62	-6.7228	4.8495	0.13530	0.243:0.0:0.2982:0.4588	.	133;190;238	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	D	190;133;238	ENSP00000414643:E190D;ENSP00000425930:E133D;ENSP00000274140:E238D	ENSP00000274140:E238D	E	+	3	2	2	MARCH6	10444791	10444791	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.545000	0.36169	0.130000	0.18549	0.655000	0.94253	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.326310	1	0.170000	NM_005885			11	11		186	181	0		1	1		0	0	33	0		9.982431e-01	9.970955e-01	0	14	0	161	0	11	186
NUDT12	83594	broad.mit.edu	37	5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A	rs373323160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000230792.2	-	6	1354	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	420	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398																																						ENST00000230792.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1258-1260)Cgc>Tgc		nudix (nucleoside diphosphate linked moiety X)-type motif 12		G	CYS/ARG	0,4404		0,0,2202	154.0	149.0	151.0		1258	5.8	1.0	5		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUDT12	NM_031438.2	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	420/463	102887938	1,13003	2202	4300	6502	SO:0001583	missense	83594	3	121410	41				g.chr5:102887938G>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1258C>T	chr5.hg19:g.102887938G>A	ENSP00000230792:p.Arg420Cys	0					NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C|NUDT12_ENST00000515407.1_5'Flank	p.R420C	NM_031438.2	NP_113626.1	1	2	3	2.006602	Q9BQG2	NUD12_HUMAN		6	1354	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	1	1	hg19	c.1258C>T	CCDS4096.1	1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492679	0.64074	0.0	1.16E-4	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09723	2.95;2.95	5.76	5.76	0.90799	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.045576	0.85682	D	0.000000	T	0.26846	0.0657	M	0.85630	2.765	0.80722	D	1	P;D	0.54964	0.908;0.969	B;P	0.50162	0.244;0.633	T	0.02411	-1.1163	10	0.62326	D	0.03	-7.224	14.1623	0.65454	0.0714:0.0:0.9286:0.0	.	402;420	E7EM93;Q9BQG2	.;NUD12_HUMAN	C	420;402	ENSP00000230792:R420C;ENSP00000424521:R402C	ENSP00000230792:R420C	R	-	1	0	0	NUDT12	102915837	102915837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.724000	0.93272	0.650000	0.86243	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-2.193753	0	0.170000	NM_031438			74	71		376	370	1		1	1		0	0	73	0		1	9.995685e-01	0	21	0	39	0	74	376
FBXL17	64839	broad.mit.edu	37	5	107216798	107216798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000542267.1	-	8	2311	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_ENST00000496714.1_Silent_p.A237A|FBXL17_ENST00000359660.5_Silent_p.A237A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	635										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)		CAATCAGGGTGGCTCCTTGGT	0.453																																						ENST00000542267.1	1.000000	0.720000	1	8.300000e-01	0.960000	0.932494	0.960000	1.000000																										0				6						c.(1903-1905)gcC>gcT		F-box and leucine-rich repeat protein 17							203.0	180.0	188.0					5																	107216798		2202	4300	6502	SO:0001819	synonymous_variant	64839	0	0					g.chr5:107216798G>A	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.1905C>T	chr5.hg19:g.107216798G>A		0					FBXL17_ENST00000359660.5_Silent_p.A237A|FBXL17_ENST00000496714.1_Silent_p.A237A	p.A635A	NM_001163315.2	NP_001156787.2	1	2	3	2.006602	Q9UF56	FXL17_HUMAN		8	2311	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	A1A4E3	Silent	SNP	ENST00000542267.1	1	1	hg19	c.1905C>T	CCDS54886.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.017764	1	0.170000				52	53		595	583	0		1	1		0	0	114	0		1	7.956766e-01	0	2	0	34	0	52	595
FBXL17	64839	broad.mit.edu	37	5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000542267.1	-	5	2001	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E|FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	532										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)		GTGAATGACTCCTTTAGAAGT	0.398																																						ENST00000542267.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1594-1596)gGa>gAa		F-box and leucine-rich repeat protein 17							116.0	107.0	110.0					5																	107559841		2202	4300	6502	SO:0001583	missense	64839	0	0					g.chr5:107559841C>T	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.1595G>A	chr5.hg19:g.107559841C>T	ENSP00000437464:p.Gly532Glu	0					FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E	p.G532E	NM_001163315.2	NP_001156787.2	1	2	3	2.006602	Q9UF56	FXL17_HUMAN		5	2001	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	1	1	hg19	c.1595G>A	CCDS54886.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613456	0.87359	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17213	2.29;4.3;2.29	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.41627	0.1167	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.16719	-1.0393	10	0.72032	D	0.01	.	19.3264	0.94264	0.0:1.0:0.0:0.0	.	532;134	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	134;532;134	ENSP00000352683:G134E;ENSP00000437464:G532E;ENSP00000418111:G134E	ENSP00000352683:G134E	G	-	2	0	0	FBXL17	107587740	107587740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.586000	0.87340	0.591000	0.81541	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.405807	1	0.170000				43	43		186	183	1		1	1		0	0	81	0		1	9.947740e-01	0	2	0	36	0	43	186
FER	2241	broad.mit.edu	37	5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000536402.1_Missense_Mutation_p.Q119H|FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	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)			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)		GTGTTCATCAGCAGATAGAGG	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(355-357)caG>caT		fer (fps/fes related) tyrosine kinase							173.0	154.0	160.0					5																	108168620		2202	4300	6502	SO:0001583	missense	2241	0	0					g.chr5:108168620G>T	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.357G>T	chr5.hg19:g.108168620G>T	ENSP00000281092:p.Gln119His	0					FER_ENST00000438717.2_Intron|FER_ENST00000536402.1_Missense_Mutation_p.Q119H|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000502752.1_3'UTR	p.Q119H	NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		4	741	+		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)	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	1	1	hg19	c.357G>T	CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170539	0.78452	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44482	0.92;0.92	6.11	3.36	0.38483	6.11	3.36	0.38483	.	0.052287	0.85682	D	0.000000	T	0.52158	0.1717	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.57324	0.818;0.72	T	0.51309	-0.8722	10	0.66056	D	0.02	-11.7439	10.5961	0.45338	0.2783:0.0:0.7217:0.0	.	119;119	Q6PEJ9;P16591	.;FER_HUMAN	H	119	ENSP00000281092:Q119H;ENSP00000442627:Q119H	ENSP00000281092:Q119H	Q	+	3	2	2	FER	108196519	108196519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	0.450000	0.26774	-0.136000	0.14681	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_005246			108	105		410	401	1		1	1		0	0	88	0		1	9.715516e-01	0	4	0	20	0	108	410
FER	2241	broad.mit.edu	37	5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	437					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)			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)		GTCTCCAAAATCTGCACTGGG	0.378																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1309-1311)Tct>Gct		fer (fps/fes related) tyrosine kinase							117.0	123.0	121.0					5																	108281903		2202	4300	6502	SO:0001583	missense	2241	0	0					g.chr5:108281903T>G	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.1309T>G	chr5.hg19:g.108281903T>G	ENSP00000281092:p.Ser437Ala	0					FER_ENST00000438717.2_Missense_Mutation_p.S262A|FER_ENST00000536402.1_3'UTR	p.S437A	NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		11	1693	+		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)	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	1	1	hg19	c.1309T>G	CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885594	0.17540	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.152771	0.64402	D	0.000011	T	0.74238	0.3690	M	0.70595	2.14	0.42790	D	0.993896	B	0.06786	0.001	B	0.04013	0.001	T	0.72043	-0.4409	10	0.51188	T	0.08	-12.5668	15.7979	0.78424	0.0:0.0:0.0:1.0	.	437	P16591	FER_HUMAN	A	437;262	ENSP00000281092:S437A;ENSP00000394297:S262A	ENSP00000281092:S437A	S	+	1	0	0	FER	108309802	108309802	1.000000	0.71417	0.989000	0.46669	0.655000	0.38815	3.468000	0.53086	2.196000	0.70406	0.402000	0.26972	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-20.000000	1	0.170000	NM_005246			101	100		404	393	1		1	0		0	0	103	0		1	6.253781e-01	0	1	0	9	0	101	404
FER	2241	broad.mit.edu	37	5	108290635	108290635	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						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)			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)		TATGTTGATGTACGTTTCCAG	0.348																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.e12+2		fer (fps/fes related) tyrosine kinase							90.0	89.0	89.0					5																	108290635		2202	4299	6501	SO:0001630	splice_region_variant	2241	0	0					g.chr5:108290635T>C	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.1533+2T>C	chr5.hg19:g.108290635T>C		0					FER_ENST00000438717.2_Splice_Site|FER_ENST00000536402.1_Intron		NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		12	1917	+		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)	B2RCR4|B4DSQ2|H2FLB8	Splice_Site	SNP	ENST00000281092.4	1	1	hg19		CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407503	0.83340	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0679	0.72011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	FER	108318534	108318534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.012000	0.88631	1.941000	0.56285	0.455000	0.32223	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_005246	Intron		71	70		350	343	0		1			0	0	82	0		1	0	0	0	0	0	0	71	350
SLC12A7	10723	broad.mit.edu	37	5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A	rs373980691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	318					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)			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)	TCGAAGCTGCGCCGTGACAGC	0.682																																						ENST00000264930.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(952-954)Cgc>Tgc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	67.0	62.0	64.0		952	3.7	0.0	5		64	0,8600		0,0,4300	no	missense	SLC12A7	NM_006598.2	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	318/1084	1084037	1,12999	2200	4300	6500	SO:0001583	missense	10723	7	121052	37				g.chr5:1084037G>A	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.952C>T	chr5.hg19:g.1084037G>A	ENSP00000264930:p.Arg318Cys	0						p.R318C	NM_006598.2	NP_006589.2	0	0	0	1.967783	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	8	995	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	1	1	hg19	c.952C>T	CCDS34129.1	1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412562	0.42817	2.27E-4	0.0	ENSG00000113504	ENST00000264930	T	0.62941	-0.01	3.68	3.68	0.42216	3.68	3.68	0.42216	.	0.203944	0.45361	D	0.000371	T	0.59756	0.2217	M	0.67953	2.075	0.09310	N	0.999996	P	0.44521	0.837	B	0.42522	0.39	T	0.58440	-0.7636	10	0.56958	D	0.05	.	9.8471	0.41034	0.0:0.0:0.7946:0.2054	.	318	Q9Y666	S12A7_HUMAN	C	318	ENSP00000264930:R318C	ENSP00000264930:R318C	R	-	1	0	0	SLC12A7	1137037	1137037	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.214000	0.32419	1.768000	0.52137	0.478000	0.44815	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	0	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-20.000000	1	0.170000	NM_006598			50	50		220	218	1		1	1		0	0	41	0		1	1	0	97	0	206	0	50	220
FER	2241	broad.mit.edu	37	5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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)		GTATCGATTCGAGGGCACTGG	0.343																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1549-1551)Gag>Aag		fer (fps/fes related) tyrosine kinase							121.0	116.0	118.0					5																	108294941		2202	4300	6502	SO:0001583	missense	2241	1	121400	28				g.chr5:108294941G>A	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.1549G>A	chr5.hg19:g.108294941G>A	ENSP00000281092:p.Glu517Lys	0					FER_ENST00000438717.2_Missense_Mutation_p.E342K|FER_ENST00000536402.1_3'UTR	p.E517K	NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		13	1933	+		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)	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	1	1	hg19	c.1549G>A	CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.588898	0.96590	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.63255	-0.03;-0.03	6.07	6.07	0.98685	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78404	-0.2217	10	0.72032	D	0.01	-23.2857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	517	P16591	FER_HUMAN	K	517;342	ENSP00000281092:E517K;ENSP00000394297:E342K	ENSP00000281092:E517K	E	+	1	0	0	FER	108322840	108322840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.233803	1	0.170000	NM_005246			59	58		256	250	1		1	1		0	0	62	0		1	8.922405e-01	0	5	0	14	0	59	256
FER	2241	broad.mit.edu	37	5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	687	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)			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)		GACCTTGCTGCAAGAAACTGC	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2059-2061)gCa>gTa		fer (fps/fes related) tyrosine kinase							127.0	122.0	124.0					5																	108516459		2202	4300	6502	SO:0001583	missense	2241	0	0					g.chr5:108516459C>T	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.2060C>T	chr5.hg19:g.108516459C>T	ENSP00000281092:p.Ala687Val	0					FER_ENST00000438717.2_Missense_Mutation_p.A512V	p.A687V	NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		18	2444	+		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)	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	1	1	hg19	c.2060C>T	CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.117416	0.94385	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.37058	1.22;1.22	5.24	5.24	0.73138	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77755	-0.2469	10	0.87932	D	0	-12.7602	18.8338	0.92153	0.0:1.0:0.0:0.0	.	687	P16591	FER_HUMAN	V	687;512	ENSP00000281092:A687V;ENSP00000394297:A512V	ENSP00000281092:A687V	A	+	2	0	0	FER	108544358	108544358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.434000	0.82447	0.650000	0.86243	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_005246			78	77		419	411	1		1	0		0	0	90	0		1	9.182680e-01	0	0	0	25	0	78	419
FER	2241	broad.mit.edu	37	5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	729	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)			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)		TGGACAGCACCGGAAGCTCTT	0.368																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2185-2187)cCg>cTg		fer (fps/fes related) tyrosine kinase							90.0	86.0	87.0					5																	108516585		2202	4300	6502	SO:0001583	missense	2241	0	0					g.chr5:108516585C>T	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.2186C>T	chr5.hg19:g.108516585C>T	ENSP00000281092:p.Pro729Leu	0					FER_ENST00000438717.2_Missense_Mutation_p.P554L	p.P729L	NM_005246.2	NP_005237.2	1	2	3	2.006602	P16591	FER_HUMAN		18	2570	+		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)	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	1	1	hg19	c.2186C>T	CCDS4098.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874551	0.91664	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.79749	-1.3;-1.3	5.63	5.63	0.86233	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93461	0.6810	10	0.87932	D	0	-15.3907	19.6891	0.95991	0.0:1.0:0.0:0.0	.	729	P16591	FER_HUMAN	L	729;554	ENSP00000281092:P729L;ENSP00000394297:P554L	ENSP00000281092:P729L	P	+	2	0	0	FER	108544484	108544484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.641000	0.89580	0.650000	0.86243	CCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.455044	0	0.170000	NM_005246			70	67		336	333	1		1	1		0	0	61	0		1	9.888798e-01	0	5	0	31	0	70	336
MAN2A1	4124	broad.mit.edu	37	5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	814					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)			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)		TTACCTGATGGTAATGCCAAG	0.343																																						ENST00000261483.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2440-2442)gGt>gTt		mannosidase, alpha, class 2A, member 1							91.0	89.0	90.0					5																	109156033		2202	4300	6502	SO:0001583	missense	4124	0	0					g.chr5:109156033G>T		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.2441G>T	chr5.hg19:g.109156033G>T	ENSP00000261483:p.Gly814Val	0						p.G814V	NM_002372.2	NP_002363.2	1	2	3	2.006602	Q16706	MA2A1_HUMAN		15	3493	+		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)	Q16767	Missense_Mutation	SNP	ENST00000261483.4	1	1	hg19	c.2441G>T	CCDS34209.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677093	0.68042	.	.	ENSG00000112893	ENST00000261483	D	0.82081	-1.57	5.97	5.97	0.96955	5.97	5.97	0.96955	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.356317	0.33272	N	0.005098	D	0.93406	0.7897	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93821	0.7119	10	0.72032	D	0.01	-12.4663	20.0338	0.97549	0.0:0.0:1.0:0.0	.	814	Q16706	MA2A1_HUMAN	V	814	ENSP00000261483:G814V	ENSP00000261483:G814V	G	+	2	0	0	MAN2A1	109183932	109183932	1.000000	0.71417	0.960000	0.40013	0.574000	0.36063	5.563000	0.67352	2.836000	0.97738	0.655000	0.94253	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000				49	48		192	190	1		1	1		0	0	54	0		1	1	0	52	0	139	0	49	192
MAN2A1	4124	broad.mit.edu	37	5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1045					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)			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)		TTTGCCTTGTGACATTCATCT	0.353																																						ENST00000261483.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				55						c.(3133-3135)Gac>Aac		mannosidase, alpha, class 2A, member 1							138.0	116.0	124.0					5																	109190997		2202	4300	6502	SO:0001583	missense	4124	0	0					g.chr5:109190997G>A		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.3133G>A	chr5.hg19:g.109190997G>A	ENSP00000261483:p.Asp1045Asn	0					MAN2A1_ENST00000505313.1_3'UTR	p.D1045N	NM_002372.2	NP_002363.2	1	2	3	2.006602	Q16706	MA2A1_HUMAN		20	4185	+		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)	Q16767	Missense_Mutation	SNP	ENST00000261483.4	1	1	hg19	c.3133G>A	CCDS34209.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.283360	0.95489	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	6.03	6.03	0.97812	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.88570	2.965	0.80722	D	1	P	0.50066	0.931	P	0.62649	0.905	D	0.92695	0.6170	10	0.72032	D	0.01	-19.9166	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1045	Q16706	MA2A1_HUMAN	N	1045	ENSP00000261483:D1045N	ENSP00000261483:D1045N	D	+	1	0	0	MAN2A1	109218896	109218896	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.029000	0.88807	2.861000	0.98227	0.655000	0.94253	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	0	0	0		17	19	2	1		1	1	44		44	44	1	2.060000	-20.000000	1	0.170000				34	34		192	189	1		1	1		1	0	44	0		9.957544e-01	9.979125e-01	0	56	0	204	0	34	192
MAN2A1	4124	broad.mit.edu	37	5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1048					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)			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)		GACATTCATCTGGTTAATTTG	0.358																																						ENST00000261483.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(3142-3144)cTg>cCg		mannosidase, alpha, class 2A, member 1							125.0	106.0	112.0					5																	109191007		2202	4300	6502	SO:0001583	missense	4124	0	0					g.chr5:109191007T>C		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.3143T>C	chr5.hg19:g.109191007T>C	ENSP00000261483:p.Leu1048Pro	0					MAN2A1_ENST00000505313.1_3'UTR	p.L1048P	NM_002372.2	NP_002363.2	1	2	3	2.006602	Q16706	MA2A1_HUMAN		20	4195	+		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)	Q16767	Missense_Mutation	SNP	ENST00000261483.4	1	1	hg19	c.3143T>C	CCDS34209.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306901	0.81247	.	.	ENSG00000112893	ENST00000261483	D	0.87334	-2.24	6.03	6.03	0.97812	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.074033	0.56097	D	0.000028	D	0.94503	0.8230	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-11.097	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1048	Q16706	MA2A1_HUMAN	P	1048	ENSP00000261483:L1048P	ENSP00000261483:L1048P	L	+	2	0	0	MAN2A1	109218906	109218906	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.560000	0.73950	2.308000	0.77769	0.533000	0.62120	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				44	43		181	178	1		1	1		0	0	39	0		1	1	0	60	0	183	0	44	181
MAN2A1	4124	broad.mit.edu	37	5	109202616	109202616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	ENST00000261483.4	+	22	4404	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1118					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)			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)		ATCCTTGATGCATTCACCTCC	0.358																																						ENST00000261483.4	1.000000	0.160000	4.600000e-01	2.300000e-01	0.320000	0.376849	0.320000	0.310000																										0				55						c.(3352-3354)Cat>Tat		mannosidase, alpha, class 2A, member 1							123.0	113.0	116.0					5																	109202616		2202	4300	6502	SO:0001583	missense	4124	0	0					g.chr5:109202616C>T		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.3352C>T	chr5.hg19:g.109202616C>T	ENSP00000261483:p.His1118Tyr	0						p.H1118Y	NM_002372.2	NP_002363.2	1	2	3	2.006602	Q16706	MA2A1_HUMAN		22	4404	+		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)	Q16767	Missense_Mutation	SNP	ENST00000261483.4	0	1	hg19	c.3352C>T	CCDS34209.1	0	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410203	0.11812	.	.	ENSG00000112893	ENST00000261483	D	0.82893	-1.66	6.03	4.25	0.50352	6.03	4.25	0.50352	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.203177	0.44483	D	0.000453	T	0.76821	0.4041	L	0.35487	1.065	0.45662	D	0.998586	B	0.27264	0.173	B	0.35688	0.208	T	0.68777	-0.5319	9	.	.	.	-6.2768	12.481	0.55842	0.0:0.866:0.0:0.134	.	1118	Q16706	MA2A1_HUMAN	Y	1118	ENSP00000261483:H1118Y	.	H	+	1	0	0	MAN2A1	109230515	109230515	1.000000	0.71417	0.964000	0.40570	0.797000	0.45037	4.052000	0.57420	0.881000	0.35993	0.655000	0.94253	CAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.005286	1	0.170000				11	11		416	405	0		1	1		0	0	90	0		9.981256e-01	9.718248e-01	0	6	0	224	0	11	416
SLC25A46	91137	broad.mit.edu	37	5	110083868	110083868	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110083868C>A	ENST00000355943.3	+	5	593	c.467C>A	c.(466-468)cCt>cAt	p.P156H	SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	156					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				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)		ATTTAGGGACCTAGAGCCCTG	0.358																																						ENST00000355943.3	1.000000	0.460000	9.500000e-01	5.800000e-01	0.730000	0.751991	0.730000	1.000000																										0				10						c.(466-468)cCt>cAt		solute carrier family 25, member 46							132.0	129.0	130.0					5																	110083868		2202	4300	6502	SO:0001583	missense	91137	0	0					g.chr5:110083868C>A	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.467C>A	chr5.hg19:g.110083868C>A	ENSP00000348211:p.Pro156His	0					SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	p.P156H	NM_138773.1	NP_620128.1	1	2	3	2.006602	Q96AG3	S2546_HUMAN		5	593	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	0	1	hg19	c.467C>A	CCDS4100.1	0	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322865	0.41096	.	.	ENSG00000164209	ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.44	4.57	0.56435	5.44	4.57	0.56435	Mitochondrial carrier domain (2);	0.302356	0.36815	N	0.002400	T	0.74245	0.3691	L	0.56769	1.78	0.41757	D	0.989698	P;P	0.51653	0.947;0.947	P;B	0.44561	0.453;0.408	T	0.74743	-0.3562	10	0.45353	T	0.12	-10.1322	10.0431	0.42171	0.0:0.8448:0.0:0.1552	.	65;156	B4DY98;Q96AG3	.;S2546_HUMAN	H	65;156;10;156;10	ENSP00000424136:P65H;ENSP00000348211:P156H;ENSP00000399717:P156H;ENSP00000425708:P10H	ENSP00000348211:P156H	P	+	2	0	0	SLC25A46	110111767	110111767	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.155000	0.58131	1.296000	0.44742	0.563000	0.77884	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	0	0	1		17	8	2	1		1	1	67		67	66	1	2.060000	-3.319340	1	0.170000	NM_138773			20	19		311	309	0		1	1		1	0	67	0		7.382345e-01	4.016046e-01	0	14	0	97	0	20	311
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000344895.3	+	3	485	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000420978.2_Missense_Mutation_p.E96K|TSLP_ENST00000379706.4_5'UTR	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space (GO:0005615)		p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522																																						ENST00000344895.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.E96*(1)	large_intestine(1)	11						c.(286-288)Gaa>Aaa		thymic stromal lymphopoietin							143.0	150.0	147.0					5																	110409278		2202	4300	6502	SO:0001583	missense	85480	0	0					g.chr5:110409278G>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.286G>A	chr5.hg19:g.110409278G>A	ENSP00000339804:p.Glu96Lys	0					TSLP_ENST00000379706.4_5'UTR|TSLP_ENST00000420978.2_Missense_Mutation_p.E96K	p.E96K	NM_033035.4	NP_149024.1	1	2	3	2.006602	Q969D9	TSLP_HUMAN		3	485	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	1	1	hg19	c.286G>A	CCDS4101.1	1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658779	0.47467	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999999	B	0.27229	0.172	B	0.29598	0.104	T	0.19778	-1.0295	9	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	96	Q969D9	TSLP_HUMAN	K	96	.	ENSP00000339804:E96K	E	+	1	0	0	TSLP	110437177	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	1	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-20.000000	1	0.170000	NM_033035			182	178		797	777	1		1	0	0	0	0	208	0		1	9.659306e-01	0	0	1	26	0	182	797
CAMK4	814	broad.mit.edu	37	5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	298	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)			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)		CTCCAGCATCCGTGGGTCACA	0.408																																						ENST00000282356.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(892-894)cCg>cTg		calcium/calmodulin-dependent protein kinase IV							94.0	93.0	93.0					5																	110818547		2202	4300	6502	SO:0001583	missense	814	0	0					g.chr5:110818547C>T	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.893C>T	chr5.hg19:g.110818547C>T	ENSP00000282356:p.Pro298Leu	0					CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L|CAMK4_ENST00000512890.1_3'UTR	p.P298L	NM_001744.4	NP_001735.1	1	2	3	2.006602	Q16566	KCC4_HUMAN		10	1291	+		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)	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	1	1	hg19	c.893C>T	CCDS4103.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977222	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	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	T	0.81302	0.4794	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.87932	D	0	.	19.0311	0.92957	0.0:1.0:0.0:0.0	.	298	Q16566	KCC4_HUMAN	L	298	ENSP00000422634:P298L;ENSP00000282356:P298L	ENSP00000282356:P298L	P	+	2	0	0	CAMK4	110846446	110846446	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	7.388000	0.79795	2.482000	0.83794	0.563000	0.77884	CCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-2.358860	0	0.170000	NM_001744			89	87		391	387	1		1	0		0	0	76	0		1	5.805327e-01	0	0	0	10	0	89	391
STARD4	134429	broad.mit.edu	37	5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	205	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			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)		TGCCTCTCATAAAGCTTTTCG	0.408																																						ENST00000296632.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(613-615)tTa>tCa		StAR-related lipid transfer (START) domain containing 4							138.0	129.0	132.0					5																	110835588		2202	4300	6502	SO:0001583	missense	134429	0	0					g.chr5:110835588A>G	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.614T>C	chr5.hg19:g.110835588A>G	ENSP00000296632:p.Leu205Ser	0					STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	p.L205S	NM_139164.1	NP_631903.1	1	2	3	2.006602	Q96DR4	STAR4_HUMAN		6	748	-		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)	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	1	1	hg19	c.614T>C	CCDS4104.1	1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912125	0.72983	.	.	ENSG00000164211	ENST00000296632	D	0.92099	-2.97	4.85	4.85	0.62838	4.85	4.85	0.62838	Lipid-binding START (1);	0.000000	0.56097	D	0.000021	D	0.95066	0.8402	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95434	0.8519	10	0.87932	D	0	-11.0684	13.4591	0.61217	1.0:0.0:0.0:0.0	.	205	Q96DR4	STAR4_HUMAN	S	205	ENSP00000296632:L205S	ENSP00000296632:L205S	L	-	2	0	0	STARD4	110863487	110863487	0.862000	0.29867	0.005000	0.12908	0.258000	0.26162	3.302000	0.51849	2.173000	0.68751	0.528000	0.53228	TTA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_139164			70	70		300	298	1		1	1		0	0	78	0		1	9.999753e-01	0	21	0	48	0	70	300
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			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)		CTGTATCTACCGCAGACTGAG	0.413																																						ENST00000296632.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(553-555)gcG>gcA		StAR-related lipid transfer (START) domain containing 4							171.0	161.0	164.0					5																	110835647		2202	4300	6502	SO:0001819	synonymous_variant	134429	4	121412	36				g.chr5:110835647C>T	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.555G>A	chr5.hg19:g.110835647C>T		0					STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	p.A185A	NM_139164.1	NP_631903.1	1	2	3	2.006602	Q96DR4	STAR4_HUMAN		6	689	-		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)	Q86TN9	Silent	SNP	ENST00000296632.3	1	1	hg19	c.555G>A	CCDS4104.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	1	0	0		2	2	2	0		0	0	103		103	102	1	2.060000	-2.781724	1	0.170000	NM_139164			105	102		414	409	1		1	1		0	0	103	0		1	9.999950e-01	0	23	0	48	0	105	414
EPB41L4A	64097	broad.mit.edu	37	5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				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)		CTCCAGGGATTTGGCAGTCCT	0.403																																						ENST00000261486.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(601-603)aAa>aCa		erythrocyte membrane protein band 4.1 like 4A							126.0	126.0	126.0					5																	111598231		1912	4116	6028	SO:0001583	missense	64097	0	0					g.chr5:111598231T>G	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.602A>C	chr5.hg19:g.111598231T>G	ENSP00000261486:p.Lys201Thr	0						p.K201T	NM_022140.3	NP_071423	1	2	3	2.006602	Q9HCS5	E41LA_HUMAN		7	878	-		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)	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	1	1	hg19	c.602A>C	CCDS43350.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021391	0.75275	.	.	ENSG00000129595	ENST00000261486	T	0.78481	-1.18	5.54	3.16	0.36331	5.54	3.16	0.36331	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);	0.101615	0.64402	D	0.000004	D	0.87819	0.6273	M	0.89030	3	0.37051	D	0.897587	D	0.89917	1.0	D	0.77557	0.99	D	0.88791	0.3278	10	0.87932	D	0	.	8.969	0.35894	0.0:0.1533:0.0:0.8467	.	201	Q9HCS5	E41LA_HUMAN	T	201	ENSP00000261486:K201T	ENSP00000261486:K201T	K	-	2	0	0	EPB41L4A	111626130	111626130	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	1.525000	0.35953	0.489000	0.27749	0.533000	0.62120	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000				92	90		413	405	1		1	1		0	0	104	0		1	9.763320e-01	0	7	0	22	0	92	413
EPB41L4A	64097	broad.mit.edu	37	5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	82	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				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)		TTGATCAGTTCTTTGTGTTCA	0.378																																						ENST00000261486.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(244-246)Gaa>Aaa		erythrocyte membrane protein band 4.1 like 4A							224.0	209.0	214.0					5																	111615981		1850	4099	5949	SO:0001583	missense	64097	0	0					g.chr5:111615981C>T	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.244G>A	chr5.hg19:g.111615981C>T	ENSP00000261486:p.Glu82Lys	0						p.E82K	NM_022140.3	NP_071423	1	2	3	2.006602	Q9HCS5	E41LA_HUMAN		3	520	-		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)	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	1	1	hg19	c.244G>A	CCDS43350.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455780	0.43634	.	.	ENSG00000129595	ENST00000261486	T	0.75589	-0.95	5.74	5.74	0.90152	5.74	5.74	0.90152	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.065340	0.64402	D	0.000005	T	0.52403	0.1732	N	0.00894	-1.105	0.40684	D	0.982336	P	0.47253	0.892	P	0.48488	0.579	T	0.61559	-0.7038	10	0.02654	T	1	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	82	Q9HCS5	E41LA_HUMAN	K	82	ENSP00000261486:E82K	ENSP00000261486:E82K	E	-	1	0	0	EPB41L4A	111643880	111643880	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1		2	2	2	0		0	0	265		265	264	1	2.060000	-20.000000	1	0.170000				218	217		952	931	1		1	1		0	0	265	0		1	9.915966e-01	0	9	0	25	0	218	952
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	rs528031482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				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)		TGATGGAATACGTGGTCAAGG	0.383													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.002					ENST00000261486.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(133-135)Gta>Ata		erythrocyte membrane protein band 4.1 like 4A							109.0	102.0	104.0					5																	111643154		1875	4109	5984	SO:0001583	missense	64097	4	120836	36				g.chr5:111643154C>T	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.133G>A	chr5.hg19:g.111643154C>T	ENSP00000261486:p.Val45Ile	0						p.V45I	NM_022140.3	NP_071423	1	2	3	2.006602	Q9HCS5	E41LA_HUMAN		2	409	-		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)	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	1	1	hg19	c.133G>A	CCDS43350.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	0	EPB41L4A	111671053	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.966678	1	0.170000				40	39		201	201	1		1	1		0	0	56	0		1	9.772209e-01	0	10	0	23	0	40	201
APC	324	broad.mit.edu	37	5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	APC_ENST00000508376.2_Missense_Mutation_p.Y158H|RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Missense_Mutation_p.Y158H			P25054	APC_HUMAN	adenomatous polyposis coli	158	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)			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)		AAAAGACTGGTATTACGCTCA	0.289		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		0				3261	GRCh37	CI042641	APC	I		c.(472-474)Tat>Cat		adenomatous polyposis coli							94.0	100.0	98.0					5																	112111375		2202	4294	6496	SO:0001583	missense	324	0	0		Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112111375T>C	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.472T>C	chr5.hg19:g.112111375T>C	ENSP00000413133:p.Tyr158His	0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.Y158H|APC_ENST00000257430.4_Missense_Mutation_p.Y158H|RNU6-482P_ENST00000391068.1_RNA	p.Y158H			1	2	3	2.006602	P25054	APC_HUMAN		5	852	+		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)	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	1	1	hg19	c.472T>C	CCDS4107.1	1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460506	0.84317	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	L	0.52573	1.65	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.93476	0.6823	10	0.87932	D	0	-14.6976	15.5121	0.75793	0.0:0.0:0.0:1.0	.	160;158	Q4LE70;P25054	.;APC_HUMAN	H	158;168;158;158;158	ENSP00000413133:Y158H;ENSP00000423224:Y168H;ENSP00000257430:Y158H;ENSP00000427089:Y158H;ENSP00000423828:Y158H	ENSP00000257430:Y158H	Y	+	1	0	0	APC	112139274	112139274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.065000	0.61736	0.533000	0.62120	TAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_000038			69	68		324	316	1		1	1		0	0	82	0		1	9.591018e-01	0	11	0	16	0	69	324
APC	324	broad.mit.edu	37	5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T	rs587779805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000508376.2_Missense_Mutation_p.R230C|APC_ENST00000257430.4_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli	230	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)			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)		GGACATACTTCGTATACGACA	0.308		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		0				3261						c.(688-690)Cgt>Tgt		adenomatous polyposis coli							80.0	76.0	78.0					5																	112128185		2202	4300	6502	SO:0001583	missense	324	1	121404	30	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112128185C>T	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.688C>T	chr5.hg19:g.112128185C>T	ENSP00000413133:p.Arg230Cys	0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R230C|APC_ENST00000257430.4_Missense_Mutation_p.R230C	p.R230C			1	2	3	2.006602	P25054	APC_HUMAN		7	1068	+		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)	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	1	1	hg19	c.688C>T	CCDS4107.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943797	0.73672	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.19	4.31	0.51392	5.19	4.31	0.51392	.	0.107791	0.64402	D	0.000016	D	0.94023	0.8085	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	D	0.94601	0.7796	10	0.87932	D	0	-13.2275	15.4696	0.75432	0.1399:0.8601:0.0:0.0	.	230	P25054	APC_HUMAN	C	230	ENSP00000413133:R230C;ENSP00000257430:R230C;ENSP00000427089:R230C;ENSP00000423828:R230C	ENSP00000257430:R230C	R	+	1	0	0	APC	112156084	112156084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.859000	0.55987	1.296000	0.44742	-0.175000	0.13238	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.546317	1	0.170000	NM_000038			57	57		238	235	1		1	1		0	0	39	0		1	9.888146e-01	0	6	0	26	0	57	238
APC	324	broad.mit.edu	37	5	112154761	112154761	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000508376.2_Silent_p.C344C|APC_ENST00000257430.4_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli	344	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)			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)		AAGACAGCTGTATATCCATGC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		0				3261						c.(1030-1032)tgT>tgC		adenomatous polyposis coli							168.0	142.0	151.0					5																	112154761		2202	4300	6502	SO:0001819	synonymous_variant	324	0	0		Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112154761T>C	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.1032T>C	chr5.hg19:g.112154761T>C		0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Silent_p.C344C|APC_ENST00000257430.4_Silent_p.C344C	p.C344C			1	2	3	2.006602	P25054	APC_HUMAN		10	1412	+		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)	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	1	1	hg19	c.1032T>C	CCDS4107.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	0		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_000038			119	119		446	441	1		1	1		0	0	82	0		1	9.876648e-01	0	5	0	23	0	119	446
APC	324	broad.mit.edu	37	5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000508376.2_Missense_Mutation_p.R374W|APC_ENST00000257430.4_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli	374	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)			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)		GGGAAATTCCCGGGGCAGTAA	0.517		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	1.000000	0.260000	7.200000e-01	3.700000e-01	0.510000	0.554348	0.510000	0.480000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		0				3261						c.(1120-1122)Cgg>Tgg		adenomatous polyposis coli							68.0	63.0	65.0					5																	112154849		2202	4300	6502	SO:0001583	missense	324	0	0		Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112154849C>T	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.1120C>T	chr5.hg19:g.112154849C>T	ENSP00000413133:p.Arg374Trp	0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R374W|APC_ENST00000257430.4_Missense_Mutation_p.R374W	p.R374W			1	2	3	2.006602	P25054	APC_HUMAN		10	1500	+		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)	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	1	1	hg19	c.1120C>T	CCDS4107.1	0	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272903	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.6;-3.3;-2.6;-2.6;-2.78	5.94	5.04	0.67666	5.94	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.68317	2.08	0.48288	D	0.999625	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.957	D	0.96078	0.9051	10	0.87932	D	0	-11.186	16.6427	0.85130	0.1303:0.8697:0.0:0.0	.	376;374	Q4LE70;P25054	.;APC_HUMAN	W	374;356;374;374;374	ENSP00000413133:R374W;ENSP00000423224:R356W;ENSP00000257430:R374W;ENSP00000427089:R374W;ENSP00000423828:R374W	ENSP00000257430:R374W	R	+	1	2	2	APC	112182748	112182748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.832000	0.97577	0.650000	0.86243	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	0	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-2.593970	1	0.170000	NM_000038			11	11		256	251	0		1	1		0	0	43	0		9.982556e-01	2.093443e-01	0	2	0	17	0	11	256
APC	324	broad.mit.edu	37	5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000508376.2_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1613H			P25054	APC_HUMAN	adenomatous polyposis coli	1613	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.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)		AGTCAGCTGCCTGTGTACAAA	0.463		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999615	0.990000	1.000000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	3261						c.(4837-4839)cCt>cAt		adenomatous polyposis coli							130.0	134.0	132.0					5																	112176129		2202	4300	6502	SO:0001583	missense	324	0	0		Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112176129C>A	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.4838C>A	chr5.hg19:g.112176129C>A	ENSP00000413133:p.Pro1613His	0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.P1613H|APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron	p.P1613H			1	2	3	2.006602	P25054	APC_HUMAN		16	5218	+		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)	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	1	1	hg19	c.4838C>A	CCDS4107.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117024	0.77323	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94606	0.7800	9	.	.	.	-19.7075	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1615;1613	Q4LE70;P25054	.;APC_HUMAN	H	1613	ENSP00000413133:P1613H;ENSP00000257430:P1613H;ENSP00000427089:P1613H	.	P	+	2	0	0	APC	112204028	112204028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1		2	2	2	0		0	0	188		188	186	1	2.060000	-3.318794	1	0.170000	NM_000038			99	98		839	815	1		1	1		0	0	188	0		1	8.520994e-01	0	5	0	26	0	99	839
ZRSR1	7310	broad.mit.edu	37	5	112228631	112228631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112228631G>T	ENST00000391338.1	+	1	1319	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	432						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						GGAAGAAATAGGCACCGCAGC	0.572																																						ENST00000391338.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				4						c.(1294-1296)aGg>aTg		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310	0	0					g.chr5:112228631G>T	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.1295G>T	chr5.hg19:g.112228631G>T	ENSP00000375133:p.Arg432Met	0					REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron	p.R432M	NM_001204199.1	NP_001191128.1	1	2	3	2.006602	Q15695	U2AFL_HUMAN		1	1319	+			B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	0	1	hg19	c.1295G>T		1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190893	0.38707	.	.	ENSG00000212643	ENST00000391338	T	0.02579	4.24	1.48	1.48	0.22813	1.48	1.48	0.22813	.	0.136890	0.64402	D	0.000012	T	0.05090	0.0136	.	.	.	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.22312	-1.0220	9	0.62326	D	0.03	.	3.8537	0.08967	0.235:0.0:0.765:0.0	.	432	Q15695	U2AFL_HUMAN	M	432	ENSP00000375133:R432M	ENSP00000375133:R432M	R	+	2	0	0	ZRSR1	112256530	112256530	0.988000	0.35896	0.010000	0.14722	0.004000	0.04260	2.106000	0.41835	1.115000	0.41800	0.467000	0.42956	AGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_005083			22	19		84	83	0		1	0		0	0	13	0		9.999992e-01	8.152846e-01	0	0	0	14	0	22	84
DCP2	167227	broad.mit.edu	37	5	112321682	112321682	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68A	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328																																						ENST00000389063.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(202-204)gcT>gcC		decapping mRNA 2							150.0	141.0	144.0					5																	112321682		2202	4300	6502	SO:0001630	splice_region_variant	167227	3	121412	35				g.chr5:112321682T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.205+1T>C	chr5.hg19:g.112321682T>C		0					DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68A	p.A68A	NM_152624.5	NP_689837	1	2	3	2.006602	Q8IU60	DCP2_HUMAN		2	402	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Splice_Site	SNP	ENST00000389063.2	1	0	hg19	c.204T>C	CCDS34210.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_152624	Silent		79	76		377	375	1		1	1		0	0	66	0		1	9.335891e-01	0	4	0	20	0	79	377
MCC	4163	broad.mit.edu	37	5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	540					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)			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)		GGAGGAAAGGCTCTCCCAGGG	0.617																																						ENST00000302475.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1618-1620)aGc>aTc		mutated in colorectal cancers							52.0	51.0	52.0					5																	112399705		2202	4300	6502	SO:0001583	missense	4163	0	0					g.chr5:112399705C>A		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.1619G>T	chr5.hg19:g.112399705C>A	ENSP00000305617:p.Ser540Ile	0					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I	p.S540I	NM_002387.2	NP_002378	1	2	3	2.006602	P23508	CRCM_HUMAN		12	2182	-		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)	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	1	1	hg19	c.1619G>T	CCDS4111.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186537	0.78789	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37752	2.34;2.34;1.18	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	D;D;D	0.80764	0.962;0.994;0.944	T	0.47368	-0.9123	10	0.46703	T	0.11	-22.4174	19.638	0.95744	0.0:1.0:0.0:0.0	.	540;730;540	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	540;477;730	ENSP00000305617:S540I;ENSP00000421615:S477I;ENSP00000386227:S730I	ENSP00000305617:S540I	S	-	2	0	0	MCC	112427604	112427604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.147000	0.71783	2.626000	0.88956	0.655000	0.94253	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_001085377			86	84		354	348	1		1	0		0	0	76	0		1	9.445297e-01	0	0	0	22	0	86	354
MCC	4163	broad.mit.edu	37	5	112676295	112676295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112676295G>T	ENST00000408903.3	-	3	963	c.548C>A	c.(547-549)gCt>gAt	p.A183D	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					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)			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)		GTGGAGAGCAGCCTGCTGATG	0.557																																						ENST00000408903.3	1.000000	0.100000	4.200000e-01	1.700000e-01	0.260000	0.329417	0.260000	0.230000																										0				42						c.(547-549)gCt>gAt		mutated in colorectal cancers							70.0	75.0	73.0					5																	112676295		2067	4205	6272	SO:0001583	missense	4163	0	0					g.chr5:112676295G>T		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	ENST00000408903.3:c.548C>A	chr5.hg19:g.112676295G>T	ENSP00000386227:p.Ala183Asp	0					CTD-2201G3.1_ENST00000416046.2_RNA	p.A183D	NM_001085377.1	NP_001078846	1	2	3	2.006602	P23508	CRCM_HUMAN		3	963	-		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)	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	0	1	hg19	c.548C>A	CCDS43351.1	0	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060539	0.08339	.	.	ENSG00000171444	ENST00000408903	T	0.39229	1.09	4.2	1.36	0.22044	4.2	1.36	0.22044	.	0.642545	0.12646	N	0.450843	T	0.20414	0.0491	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.12430	T	0.62	-0.0083	5.5	0.16823	0.236:0.0:0.6236:0.1404	.	183	P23508-2	.	D	183	ENSP00000386227:A183D	ENSP00000386227:A183D	A	-	2	0	0	MCC	112704194	112704194	0.979000	0.34478	0.000000	0.03702	0.209000	0.24338	3.270000	0.51600	0.134000	0.18681	0.561000	0.74099	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	0	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-6.853560	1	0.170000	NM_001085377			6	6		287	283	0		1	0		0	0	52	0		9.638935e-01	1.885090e-03	0	0	0	3	0	6	287
MCC	4163	broad.mit.edu	37	5	112720690	112720690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112720690C>T	ENST00000408903.3	-	2	805	c.390G>A	c.(388-390)tgG>tgA	p.W130*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					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)			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)		TGCTCGTGGGCCAGGAAGCAA	0.473																																						ENST00000408903.3	1.000000	0.150000	4.400000e-01	2.200000e-01	0.300000	0.364274	0.300000	0.290000																										0				42						c.(388-390)tgG>tgA		mutated in colorectal cancers							128.0	126.0	126.0					5																	112720690		1933	4153	6086	SO:0001587	stop_gained	4163	0	0					g.chr5:112720690C>T		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	ENST00000408903.3:c.390G>A	chr5.hg19:g.112720690C>T	ENSP00000386227:p.Trp130*	0					CTD-2201G3.1_ENST00000416046.2_RNA	p.W130*	NM_001085377.1	NP_001078846	1	2	3	2.006602	P23508	CRCM_HUMAN		2	805	-		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)	D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000408903.3	0	1	hg19	c.390G>A	CCDS43351.1	0	.	.	.	.	.	.	.	.	.	.	C	40	8.134648	0.98670	.	.	ENSG00000171444	ENST00000408903	.	.	.	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.119002	0.37906	N	0.001900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.029	17.1098	0.86672	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000386227:W130X	W	-	3	0	0	MCC	112748589	112748589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.417000	0.66423	2.542000	0.85734	0.650000	0.86243	TGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.483807	1	0.170000	NM_001085377			10	9		398	389	0		1	0		0	0	74	0		9.965559e-01	7.833363e-04	0	0	0	2	0	10	398
TSSK1B	83942	broad.mit.edu	37	5	112770312	112770312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			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)		AGATCTCGTAGGTCTTAATGA	0.532																																						ENST00000390666.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(223-225)acC>acT		testis-specific serine kinase 1B							59.0	64.0	62.0					5																	112770312		2169	4285	6454	SO:0001819	synonymous_variant	83942	0	0					g.chr5:112770312G>A	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.225C>T	chr5.hg19:g.112770312G>A		0					MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	p.T75T	NM_032028.3	NP_114417.1	1	2	3	2.006602	Q9BXA7	TSSK1_HUMAN		1	416	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	B2R8D9	Silent	SNP	ENST00000390666.3	1	1	hg19	c.225C>T	CCDS4112.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.213463	1	0.170000	NM_032028			56	56		238	231	0		1			0	0	59	0		1	0	0	0	0	0	0	56	238
YTHDC2	64848	broad.mit.edu	37	5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000161863.4	+	1	257	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	15	Gly-rich.				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)			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)		CCGGCTCCTGGCGGTGGCGGA	0.706																																						ENST00000161863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(43-45)gGc>gTc		YTH domain containing 2							7.0	8.0	8.0					5																	112849636		2038	3998	6036	SO:0001583	missense	64848	0	0					g.chr5:112849636G>T	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.44G>T	chr5.hg19:g.112849636G>T	ENSP00000161863:p.Gly15Val	0					YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	p.G15V	NM_022828.3	NP_073739.3	1	2	3	2.006602	Q9H6S0	YTDC2_HUMAN		1	257	+		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)	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	1	1	hg19	c.44G>T	CCDS4113.1	1	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001738	0.07819	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.08102	4.12;3.13	4.23	1.2	0.21068	4.23	1.2	0.21068	.	0.371841	0.19490	N	0.113018	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.51188	T	0.08	.	5.7402	0.18089	0.1115:0.3936:0.4949:0.0	.	15	Q9H6S0	YTDC2_HUMAN	V	15	ENSP00000161863:G15V;ENSP00000423101:G15V	ENSP00000161863:G15V	G	+	2	0	0	YTHDC2	112877535	112877535	0.976000	0.34144	0.002000	0.10522	0.004000	0.04260	2.975000	0.49281	0.308000	0.22923	-0.502000	0.04539	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_022828			37	37		95	94	0		1	0		0	0	13	0		1	8.192371e-02	0	0	0	2	0	37	95
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					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)				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						GTAGGGGTCCGCGTAATTGGA	0.662																																						ENST00000304623.8	1.000000	0.900000	1	9.900000e-01	0.990000	0.993908	0.990000	1.000000																										0				136						c.(1498-1500)gCg>gTg		catenin (cadherin-associated protein), delta 2							82.0	86.0	85.0					5																	11346613		2203	4300	6503	SO:0001583	missense	1501	6	121412	39				g.chr5:11346613G>A	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.1499C>T	chr5.hg19:g.11346613G>A	ENSP00000307134:p.Ala500Val	0					CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000495388.2_5'UTR	p.A500V	NM_001332.2	NP_001323.1	0	0	0	1.967783	Q9UQB3	CTND2_HUMAN		9	1688	-			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	1	1	hg19	c.1499C>T	CCDS3881.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529764	0.85706	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80393	-1.22;-1.28;-1.25;-1.37;-1.26	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.287190	0.32015	N	0.006716	T	0.73241	0.3562	L	0.44542	1.39	0.58432	D	0.999994	B;B;P	0.48998	0.384;0.196;0.918	B;B;B	0.33799	0.026;0.017;0.17	T	0.75365	-0.3343	10	0.39692	T	0.17	-14.6084	20.1139	0.97919	0.0:0.0:1.0:0.0	.	163;67;500	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	500;500;409;67;163	ENSP00000307134:A500V;ENSP00000352661:A500V;ENSP00000426510:A409V;ENSP00000391155:A67V;ENSP00000426887:A163V	ENSP00000307134:A500V	A	-	2	0	0	CTNND2	11399613	11399613	1.000000	0.71417	0.967000	0.41034	0.976000	0.68499	5.153000	0.64888	2.763000	0.94921	0.585000	0.79938	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1		22	2	2	1		1	1	105		105	103	1	2.060000	-3.017764	1	0.170000	NM_001332			70	67		633	629	1		1	0		1	0	105	0		1	2.668995e-01	0	0	0	10	0	70	633
CTNND2	1501	broad.mit.edu	37	5	11384844	11384844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	370					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)				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						TGCTGTACTGCTCGGACGCGT	0.672																																						ENST00000304623.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				136						c.(1108-1110)gaG>gaA		catenin (cadherin-associated protein), delta 2							54.0	46.0	49.0					5																	11384844		2203	4300	6503	SO:0001819	synonymous_variant	1501	0	0					g.chr5:11384844C>T	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.1110G>A	chr5.hg19:g.11384844C>T		0					CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000495388.2_5'UTR	p.E370E	NM_001332.2	NP_001323.1	0	0	0	1.967783	Q9UQB3	CTND2_HUMAN		7	1299	-			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	1	1	hg19	c.1110G>A	CCDS3881.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_001332			27	25		109	107	1		1	0		0	0	16	0		1	6.242946e-01	0	0	0	10	0	27	109
CTNND2	1501	broad.mit.edu	37	5	11384997	11384997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000495388.2_5'Flank	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	319					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)				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						AGGACACGACGATGTTGATGG	0.716																																						ENST00000304623.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				136						c.(955-957)atC>atT		catenin (cadherin-associated protein), delta 2							68.0	73.0	72.0					5																	11384997		2198	4299	6497	SO:0001819	synonymous_variant	1501	0	0					g.chr5:11384997G>A	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.957C>T	chr5.hg19:g.11384997G>A		0					CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000495388.2_5'Flank	p.I319I	NM_001332.2	NP_001323.1	0	0	0	1.967783	Q9UQB3	CTND2_HUMAN		7	1146	-			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	1	1	hg19	c.957C>T	CCDS3881.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-17.063350	1	0.170000	NM_001332			24	23		94	89	0		1	0		0	0	16	0		9.999998e-01	2.812342e-01	0	0	0	5	0	24	94
YTHDC2	64848	broad.mit.edu	37	5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000161863.4	+	15	2254	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	681	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			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)		ACCTGCAGGTGTTCGAAAAAT	0.284																																						ENST00000161863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2041-2043)Gtt>Att		YTH domain containing 2							56.0	57.0	56.0					5																	112889540		2201	4297	6498	SO:0001583	missense	64848	0	0					g.chr5:112889540G>A	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.2041G>A	chr5.hg19:g.112889540G>A	ENSP00000161863:p.Val681Ile	0					YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	p.V681I	NM_022828.3	NP_073739.3	1	2	3	2.006602	Q9H6S0	YTDC2_HUMAN		15	2254	+		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)	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	1	1	hg19	c.2041G>A	CCDS4113.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274031	0.23221	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.75154	-0.91;-0.91	5.51	4.52	0.55395	5.51	4.52	0.55395	Helicase, C-terminal (3);	0.121117	0.52532	D	0.000061	T	0.66829	0.2829	M	0.64567	1.98	0.30228	N	0.796184	B	0.06786	0.001	B	0.12837	0.008	T	0.60439	-0.7263	10	0.35671	T	0.21	.	6.275	0.20975	0.3016:0.0:0.6984:0.0	.	681	Q9H6S0	YTDC2_HUMAN	I	681;681;591	ENSP00000161863:V681I;ENSP00000423101:V681I	ENSP00000161863:V681I	V	+	1	0	0	YTHDC2	112917439	112917439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.406000	0.44557	2.572000	0.86782	0.650000	0.86243	GTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_022828			63	62		170	169	1		1	1		0	0	41	0		1	9.861479e-01	0	6	0	15	0	63	170
TRIM36	55521	broad.mit.edu	37	5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000282369.3	-	10	2062	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000513154.1_Missense_Mutation_p.K635N	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	647	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383																																						ENST00000282369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1939-1941)aaG>aaT		tripartite motif containing 36							98.0	99.0	99.0					5																	114462446		2202	4300	6502	SO:0001583	missense	55521	0	0					g.chr5:114462446C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1941G>T	chr5.hg19:g.114462446C>A	ENSP00000282369:p.Lys647Asn	0					TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000513154.1_Missense_Mutation_p.K635N	p.K647N	NM_018700.3	NP_061170.2	1	2	3	2.006602	Q9NQ86	TRI36_HUMAN		10	2062	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	1	1	hg19	c.1941G>T	CCDS4115.1	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860214	0.32884	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.69175	-0.38;-0.38;-0.38	5.73	3.92	0.45320	5.73	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200438	0.51477	D	0.000087	T	0.71846	0.3388	L	0.59436	1.845	0.80722	D	1	D;P	0.58970	0.984;0.91	P;P	0.57679	0.825;0.676	T	0.67921	-0.5545	10	0.26408	T	0.33	.	11.5858	0.50918	0.0:0.8068:0.1251:0.0681	.	635;647	E9PFI8;Q9NQ86	.;TRI36_HUMAN	N	647;635;492	ENSP00000282369:K647N;ENSP00000423934:K635N;ENSP00000424259:K492N	ENSP00000282369:K647N	K	-	3	2	2	TRIM36	114490345	114490345	0.998000	0.40836	0.992000	0.48379	0.109000	0.19521	0.968000	0.29357	0.850000	0.35239	-0.150000	0.13652	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_018700			60	59		255	252	1		1	1		0	0	51	0		1	9.716722e-02	0	2	0	1	0	60	255
TRIM36	55521	broad.mit.edu	37	5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000282369.3	-	3	488	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.D111Y|TRIM36-IT1_ENST00000503723.1_RNA	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	123					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443																																						ENST00000282369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(367-369)Gat>Tat		tripartite motif containing 36							164.0	148.0	153.0					5																	114483023		2202	4300	6502	SO:0001583	missense	55521	0	0					g.chr5:114483023C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.367G>T	chr5.hg19:g.114483023C>A	ENSP00000282369:p.Asp123Tyr	0					TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.D111Y|TRIM36_ENST00000515104.1_5'UTR	p.D123Y	NM_018700.3	NP_061170.2	1	2	3	2.006602	Q9NQ86	TRI36_HUMAN		3	488	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	1	1	hg19	c.367G>T	CCDS4115.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508975	0.85282	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87887	-2.31;-2.31;-2.31	5.24	5.24	0.73138	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.098563	0.64402	D	0.000002	D	0.88855	0.6550	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.947	D	0.83406	0.0025	10	0.02654	T	1	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	111;123	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	123;111;121	ENSP00000282369:D123Y;ENSP00000423934:D111Y;ENSP00000424743:D121Y	ENSP00000282369:D123Y	D	-	1	0	0	TRIM36	114510922	114510922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.418000	0.82041	0.591000	0.81541	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	0	0	1		2	2	2	0		0	0	157		157	156	1	2.060000	-20.000000	1	0.170000	NM_018700			130	128		514	501	1		1	0		0	0	157	0		1	3.514598e-01	0	0	0	6	0	130	514
TRIM36	55521	broad.mit.edu	37	5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000282369.3	-	2	317	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.D54Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	66					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458																																						ENST00000282369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(196-198)Gat>Tat		tripartite motif containing 36							160.0	148.0	152.0					5																	114499317		2202	4300	6502	SO:0001583	missense	55521	0	0					g.chr5:114499317C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.196G>T	chr5.hg19:g.114499317C>A	ENSP00000282369:p.Asp66Tyr	0					TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.D54Y|TRIM36_ENST00000515104.1_5'UTR	p.D66Y	NM_018700.3	NP_061170.2	1	2	3	2.006602	Q9NQ86	TRI36_HUMAN		2	317	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	1	1	hg19	c.196G>T	CCDS4115.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415762	0.83449	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55413	0.52;0.64;0.93	5.31	5.31	0.75309	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.237750	0.42964	D	0.000625	T	0.74741	0.3756	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.77907	-0.2412	10	0.72032	D	0.01	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	54;66	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	66;54;54	ENSP00000282369:D66Y;ENSP00000423934:D54Y;ENSP00000424743:D54Y	ENSP00000282369:D66Y	D	-	1	0	0	TRIM36	114527216	114527216	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.348000	0.79366	2.468000	0.83385	0.655000	0.94253	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_018700			86	84		374	371	1		1			0	0	100	0		1	0	0	0	0	0	0	86	374
TRIM36	55521	broad.mit.edu	37	5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	11					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557																																						ENST00000282369.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(31-33)gGc>gAc		tripartite motif containing 36							117.0	119.0	118.0					5																	114515703		2202	4300	6502	SO:0001583	missense	55521	0	0					g.chr5:114515703C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.32G>A	chr5.hg19:g.114515703C>T	ENSP00000282369:p.Gly11Asp	0					TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D|TRIM36_ENST00000514154.1_5'UTR	p.G11D	NM_018700.3	NP_061170.2	1	2	3	2.006602	Q9NQ86	TRI36_HUMAN		1	153	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	1	1	hg19	c.32G>A	CCDS4115.1	1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221520	0.58560	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.54071	0.59	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.224065	0.38492	N	0.001662	T	0.61489	0.2351	L	0.41824	1.3	0.25265	N	0.989568	D;D;P	0.71674	0.998;0.998;0.536	D;D;B	0.72075	0.976;0.943;0.114	T	0.53358	-0.8450	10	0.42905	T	0.14	.	12.7819	0.57483	0.0:1.0:0.0:0.0	.	11;11;11	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	D	11	ENSP00000282369:G11D	ENSP00000282369:G11D	G	-	2	0	0	TRIM36	114543602	114543602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.136000	0.66102	0.563000	0.77884	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_018700			113	111		573	565	1		1			0	0	104	0		1	0	0	0	0	0	0	113	573
CCDC112	153733	broad.mit.edu	37	5	114604698	114604698	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000512261.1	-	10	1596		c.e10-1		CCDC112_ENST00000379611.5_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368																																						ENST00000512261.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.e10-1		coiled-coil domain containing 112							134.0	130.0	132.0					5																	114604698		2202	4300	6502	SO:0001630	splice_region_variant	153733	0	0					g.chr5:114604698C>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1180-1G>T	chr5.hg19:g.114604698C>A		0					CCDC112_ENST00000379611.5_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site				1	2	3	2.006602	Q8NEF3	CC112_HUMAN		10	1596	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	Q6A334	Splice_Site	SNP	ENST00000512261.1	1	1	hg19		CCDS4117.1	1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.174790	0.78452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.9	5.9	0.94986	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CCDC112	114632597	114632597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.803000	0.96430	0.650000	0.86243	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.701714	1	0.170000	NM_152549	Intron		52	52		279	273	1		1	0		0	0	62	0		1	0	0	1	0	0	0	52	279
CCDC112	153733	broad.mit.edu	37	5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000512261.1	-	9	1562	c.1146A>C	c.(1144-1146)caA>caC	p.Q382H	CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTCTTTGTTTTTGTGACTTTT	0.308																																						ENST00000512261.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999134	0.990000	1.000000																										0				20						c.(1144-1146)caA>caC		coiled-coil domain containing 112							178.0	167.0	171.0					5																	114605433		2200	4295	6495	SO:0001583	missense	153733	0	0					g.chr5:114605433T>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1146A>C	chr5.hg19:g.114605433T>G	ENSP00000423712:p.Gln382His	0					CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron	p.Q382H			1	2	3	2.006602	Q8NEF3	CC112_HUMAN		9	1562	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	1	1	hg19	c.1146A>C	CCDS4117.1	1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705875	0.48412	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.18016	2.27;2.24;2.24	5.35	4.17	0.49024	5.35	4.17	0.49024	.	0.314007	0.33180	N	0.005185	T	0.09598	0.0236	N	0.08118	0	0.25575	N	0.98685	B;B	0.20052	0.041;0.005	B;B	0.14023	0.01;0.003	T	0.22103	-1.0226	10	0.72032	D	0.01	-8.6957	11.5301	0.50604	0.1346:0.0:0.0:0.8654	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	H	465;382;382	ENSP00000368931:Q465H;ENSP00000423712:Q382H;ENSP00000378925:Q382H	ENSP00000368931:Q465H	Q	-	3	2	2	CCDC112	114633332	114633332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.247000	0.32815	0.938000	0.37419	0.528000	0.53228	CAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999940	1	0.170000	NM_152549			13	13		60	56	1		1	1		0	0	19	0		9.995645e-01	9.939493e-01	0	19	0	25	0	13	60
CCDC112	153733	broad.mit.edu	37	5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000512261.1	-	7	817	c.401G>A	c.(400-402)aGc>aAc	p.S134N	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	134										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408																																						ENST00000512261.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(400-402)aGc>aAc		coiled-coil domain containing 112							138.0	139.0	139.0					5																	114611181		2202	4300	6502	SO:0001583	missense	153733	0	0					g.chr5:114611181C>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.401G>A	chr5.hg19:g.114611181C>T	ENSP00000423712:p.Ser134Asn	0					CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N	p.S134N			1	2	3	2.006602	Q8NEF3	CC112_HUMAN		7	817	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	1	1	hg19	c.401G>A	CCDS4117.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831347	0.50845	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24538	1.85;2.19;2.19;2.19	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.516231	0.25114	N	0.033025	T	0.27559	0.0677	L	0.43152	1.355	0.29259	N	0.871457	P;P;P	0.38504	0.634;0.634;0.493	B;B;B	0.41894	0.369;0.369;0.206	T	0.10683	-1.0619	10	0.22109	T	0.4	-3.5344	15.6166	0.76773	0.0:0.8531:0.1469:0.0	.	134;217;134	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	217;134;134;134	ENSP00000368931:S217N;ENSP00000423712:S134N;ENSP00000424876:S134N;ENSP00000378925:S134N	ENSP00000368931:S217N	S	-	2	0	0	CCDC112	114639080	114639080	0.664000	0.27457	0.851000	0.33527	0.995000	0.86356	1.112000	0.31172	2.810000	0.96702	0.650000	0.86243	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-20.000000	1	0.170000	NM_152549			124	122		530	527	1		1	1		0	0	120	0		1	9.996105e-01	0	11	0	40	0	124	530
CCDC112	153733	broad.mit.edu	37	5	114615393	114615393	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000512261.1	-	4	479	c.63T>C	c.(61-63)agT>agC	p.S21S	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Silent_p.S104S|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294																																						ENST00000512261.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				20						c.(61-63)agT>agC		coiled-coil domain containing 112							127.0	114.0	118.0					5																	114615393		2202	4298	6500	SO:0001819	synonymous_variant	153733	0	0					g.chr5:114615393A>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.63T>C	chr5.hg19:g.114615393A>G		0					CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Silent_p.S104S|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S	p.S21S			1	2	3	2.006602	Q8NEF3	CC112_HUMAN		4	479	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	Q6A334	Silent	SNP	ENST00000512261.1	1	1	hg19	c.63T>C	CCDS4117.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_152549			29	29		137	136	1		1	1		0	0	36	0		1	9.811656e-01	0	7	0	26	0	29	137
TMED7	51014	broad.mit.edu	37	5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000456936.3	-	2	703	c.323T>G	c.(322-324)tTt>tGt	p.F108C	AC010226.4_ENST00000508517.1_RNA|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7	108	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|COPII vesicle coat (GO:0030127)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		GCTGAAGCAAAATTTGTATGT	0.353																																					Pancreas(167;237 2002 3207 14549 49356)	ENST00000456936.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(322-324)tTt>tGt		transmembrane emp24 protein transport domain containing 7							126.0	128.0	127.0					5																	114956247		2202	4300	6502	SO:0001583	missense	51014	0	0					g.chr5:114956247A>C	AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970			24253	protein-coding gene	gene with protein product						10810093	Standard	NM_181836		Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000456936.3:c.323T>G	chr5.hg19:g.114956247A>C	ENSP00000405926:p.Phe108Cys	0					TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA|AC010226.4_ENST00000508517.1_RNA	p.F108C	NM_181836.5	NP_861974.1	1	2	3	2.006602	Q9Y3B3	TMED7_HUMAN		2	703	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)	Q8NBU8|Q8WUU6|Q96K51	Missense_Mutation	SNP	ENST00000456936.3	1	0	hg19	c.323T>G	CCDS4120.1	1	.	.	.	.	.	.	.	.	.	.	a	24.8	4.571078	0.86542	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.92	5.92	0.95590	5.92	5.92	0.95590	GOLD (3);	0.097816	0.64402	D	0.000001	T	0.75867	0.3908	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82096	-0.0626	10	0.72032	D	0.01	-15.079	15.3535	0.74409	1.0:0.0:0.0:0.0	.	108;108	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	C	108	ENSP00000386341:F108C;ENSP00000282382:F108C;ENSP00000333650:F108C;ENSP00000405926:F108C	ENSP00000405926:F108C	F	-	2	0	0	TMED7;TICAM2;TMED7-TICAM2	114984146	114984146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.267000	0.75376	0.477000	0.44152	TTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254990.4	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_181836			82	82		368	361	0		1	1		0	0	82	0		1	1	0	92	0	305	0	82	368
SEMA6A	57556	broad.mit.edu	37	5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	489	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458																																						ENST00000343348.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1465-1467)gGc>gAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							99.0	97.0	97.0					5																	115813812		2040	4200	6240	SO:0001583	missense	57556	0	0					g.chr5:115813812C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1466G>A	chr5.hg19:g.115813812C>T	ENSP00000345512:p.Gly489Asp	0					CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000514214.1_RNA	p.G489D	NM_020796.3	NP_065847	1	2	3	2.006602	Q9H2E6	SEM6A_HUMAN		14	2253	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	1	1	hg19	c.1466G>A	CCDS47256.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380670|4.380670	0.82792|0.82792	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.98|5.98	5.98|5.98	0.97165|0.97165	5.98|5.98	5.98|5.98	0.97165|0.97165	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	.|0.048510	.|0.85682	.|D	.|0.000000	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.66939|0.66939	2.045|2.045	0.35680|0.35680	D|D	0.814023|0.814023	.|D;P;P;B	.|0.53312	.|0.959;0.698;0.949;0.378	.|P;B;P;B	.|0.58454	.|0.839;0.305;0.79;0.138	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.87932	.|D	.|0	.|.	16.595|16.595	0.84794|0.84794	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|489;33;489;21	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|D	59|489;489;21;489	.|ENSP00000345512:G489D;ENSP00000257414:G489D;ENSP00000282394:G21D;ENSP00000424388:G489D	.|ENSP00000257414:G489D	A|G	-|-	1|2	0|0	0|0	SEMA6A|SEMA6A	115841711|115841711	115841711|115841711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.891000|4.891000	0.63185|0.63185	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCA|GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_020796			63	61		247	243	0		1	0		0	0	73	0		1	9.031239e-01	0	0	0	18	0	63	247
SEMA6A	57556	broad.mit.edu	37	5	115814375	115814375	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	SEMA6A_ENST00000257414.8_Silent_p.G430G|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	430	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413																																						ENST00000343348.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999745	0.990000	1.000000																										0				31						c.(1288-1290)ggG>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							79.0	76.0	77.0					5																	115814375		1897	4113	6010	SO:0001819	synonymous_variant	57556	0	0					g.chr5:115814375C>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1290G>T	chr5.hg19:g.115814375C>A		0					CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|SEMA6A_ENST00000257414.8_Silent_p.G430G|SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000514214.1_RNA	p.G430G	NM_020796.3	NP_065847	1	2	3	2.006602	Q9H2E6	SEM6A_HUMAN		13	2077	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	Q9P2H9	Silent	SNP	ENST00000343348.6	1	1	hg19	c.1290G>T	CCDS47256.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-13.443530	1	0.170000	NM_020796			23	23		129	126	1		1	1		0	0	25	0		9.999996e-01	6.898347e-01	0	3	0	12	0	23	129
SEMA6A	57556	broad.mit.edu	37	5	115832009	115832009	+	Splice_Site	SNP	T	T	C	rs548814059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	94	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0					ENST00000343348.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(280-282)Aaa>Gaa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							140.0	138.0	138.0					5																	115832009		1847	4078	5925	SO:0001630	splice_region_variant	57556	0	0					g.chr5:115832009T>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.280-1A>G	chr5.hg19:g.115832009T>C		0					CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E|CTB-118N6.3_ENST00000514214.1_RNA	p.K94E	NM_020796.3	NP_065847	1	2	3	2.006602	Q9H2E6	SEM6A_HUMAN		5	1067	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	Q9P2H9	Splice_Site	SNP	ENST00000343348.6	1	0	hg19	c.280A>G	CCDS47256.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108165	0.77096	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29397	2.79;2.79;2.79;1.57;1.57	6.16	6.16	0.99307	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.45698	1.435	0.80722	D	1	P;P	0.40266	0.71;0.662	P;B	0.47470	0.548;0.412	T	0.18650	-1.0330	10	0.72032	D	0.01	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	94;94	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	94	ENSP00000345512:K94E;ENSP00000257414:K94E;ENSP00000424388:K94E;ENSP00000421935:K94E;ENSP00000425553:K94E	ENSP00000257414:K94E	K	-	1	0	0	SEMA6A	115859908	115859908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_020796	Missense_Mutation		87	87		342	337	1		1	0		0	0	100	0		1	1.872066e-01	0	0	0	4	0	87	342
DMXL1	1657	broad.mit.edu	37	5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	689										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)		CAAAATAAAAGCACTGTTGAC	0.423																																						ENST00000311085.8	1.000000	0.420000	7.900000e-01	5.100000e-01	0.630000	0.661418	0.630000	0.610000																										0				86						c.(2065-2067)aGc>aTc		Dmx-like 1							120.0	117.0	118.0					5																	118469685		2202	4300	6502	SO:0001583	missense	1657	0	0					g.chr5:118469685G>T	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.2066G>T	chr5.hg19:g.118469685G>T	ENSP00000309690:p.Ser689Ile	0					DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	p.S689I	NM_005509.4	NP_005500.4	1	2	3	2.006602	Q9Y485	DMXL1_HUMAN		12	2146	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		Missense_Mutation	SNP	ENST00000311085.8	1	1	hg19	c.2066G>T	CCDS4125.1	0	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504230	0.12822	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.53	2.75	0.32379	5.53	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);	0.491773	0.26075	N	0.026490	T	0.01592	0.0051	L	0.40543	1.245	0.25668	N	0.985924	B;B	0.27853	0.191;0.037	B;B	0.28709	0.093;0.043	T	0.46034	-0.9220	9	.	.	.	-0.7137	10.1344	0.42697	0.2742:0.0:0.7258:0.0	.	689;689	F5H269;Q9Y485	.;DMXL1_HUMAN	I	689	ENSP00000309690:S689I;ENSP00000439479:S689I	.	S	+	2	0	0	DMXL1	118497584	118497584	0.045000	0.20229	0.991000	0.47740	0.398000	0.30690	0.219000	0.17641	0.700000	0.31782	0.460000	0.39030	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-5.651566	1	0.170000	NM_005509			27	27		489	481	0		1	1		0	0	102	0		9.999999e-01	3.920939e-01	0	2	0	23	0	27	489
DMXL1	1657	broad.mit.edu	37	5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1006										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)		CAGAGTAACAGATGGAGAATC	0.383																																						ENST00000311085.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				86						c.(3016-3018)Gat>Tat		Dmx-like 1							116.0	113.0	114.0					5																	118484538		2202	4300	6502	SO:0001583	missense	1657	0	0					g.chr5:118484538G>T	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.3016G>T	chr5.hg19:g.118484538G>T	ENSP00000309690:p.Asp1006Tyr	0					DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	p.D1006Y	NM_005509.4	NP_005500.4	1	2	3	2.006602	Q9Y485	DMXL1_HUMAN		18	3096	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		Missense_Mutation	SNP	ENST00000311085.8	1	1	hg19	c.3016G>T	CCDS4125.1	1	.	.	.	.	.	.	.	.	.	.	G	4.261	0.047475	0.08243	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01422	4.91;4.91	5.5	-5.91	0.02269	5.5	-5.91	0.02269	.	2.186180	0.01385	N	0.013067	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48906	-0.8993	10	0.66056	D	0.02	1.9386	3.4989	0.07665	0.3765:0.3392:0.1976:0.0868	.	1006;1006	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1006	ENSP00000309690:D1006Y;ENSP00000439479:D1006Y	ENSP00000309690:D1006Y	D	+	1	0	0	DMXL1	118512437	118512437	0.000000	0.05858	0.004000	0.12327	0.675000	0.39556	-0.644000	0.05415	-0.804000	0.04410	-0.878000	0.02970	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_005509			103	102		452	445	1		1	1		0	0	101	0		1	9.585340e-01	0	2	0	23	0	103	452
DMXL1	1657	broad.mit.edu	37	5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1431								p.T1431M(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)		AATGAGAGTACGTTAAGTAAA	0.338																																						ENST00000311085.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T1431M(1)	large_intestine(1)	86						c.(4291-4293)aCg>aTg		Dmx-like 1							79.0	79.0	79.0					5																	118485814		2202	4299	6501	SO:0001583	missense	1657	1	121404	32				g.chr5:118485814C>T	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.4292C>T	chr5.hg19:g.118485814C>T	ENSP00000309690:p.Thr1431Met	0					DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	p.T1431M	NM_005509.4	NP_005500.4	1	2	3	2.006602	Q9Y485	DMXL1_HUMAN		18	4372	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		Missense_Mutation	SNP	ENST00000311085.8	1	1	hg19	c.4292C>T	CCDS4125.1	1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959535	0.18507	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10192	2.9;2.9	5.43	2.49	0.30216	5.43	2.49	0.30216	.	0.861240	0.10758	N	0.637577	T	0.10423	0.0255	L	0.43152	1.355	0.09310	N	1	P;P	0.50272	0.917;0.933	B;P	0.44897	0.333;0.463	T	0.22906	-1.0203	10	0.34782	T	0.22	-0.933	4.1577	0.10268	0.2541:0.447:0.223:0.076	.	1431;1431	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1431	ENSP00000309690:T1431M;ENSP00000439479:T1431M	ENSP00000309690:T1431M	T	+	2	0	0	DMXL1	118513713	118513713	0.001000	0.12720	0.958000	0.39756	0.802000	0.45316	0.504000	0.22626	0.760000	0.33108	0.563000	0.77884	ACG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-4.015289	1	0.170000	NM_005509			92	91		335	333	1		1	1		0	0	74	0		1	9.972324e-01	0	10	0	25	0	92	335
DMXL1	1657	broad.mit.edu	37	5	118580057	118580057	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118580057T>G	ENST00000311085.8	+	42	8725	c.8645T>G	c.(8644-8646)tTt>tGt	p.F2882C	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2903C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2882										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)		CTTTCAGCATTTACCTGCCAT	0.328																																						ENST00000311085.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				86						c.(8644-8646)tTt>tGt		Dmx-like 1							55.0	52.0	53.0					5																	118580057		2201	4300	6501	SO:0001583	missense	1657	0	0					g.chr5:118580057T>G	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.8645T>G	chr5.hg19:g.118580057T>G	ENSP00000309690:p.Phe2882Cys	0					DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2903C	p.F2882C	NM_005509.4	NP_005500.4	1	2	3	2.006602	Q9Y485	DMXL1_HUMAN		42	8725	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		Missense_Mutation	SNP	ENST00000311085.8	1	0	hg19	c.8645T>G	CCDS4125.1	1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733111	0.69189	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01484	4.84;4.84	5.4	5.4	0.78164	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102806	0.64402	D	0.000002	T	0.10465	0.0256	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.972;0.974	T	0.00364	-1.1787	10	0.87932	D	0	-22.8947	15.4002	0.74834	0.0:0.0:0.0:1.0	.	2903;2882	F5H269;Q9Y485	.;DMXL1_HUMAN	C	2882;2903	ENSP00000309690:F2882C;ENSP00000439479:F2903C	ENSP00000309690:F2882C	F	+	2	0	0	DMXL1	118607956	118607956	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.621000	0.83083	2.037000	0.60232	0.477000	0.44152	TTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_005509			25	25		121	121	0		1	1		0	0	30	0		9.999999e-01	9.966446e-01	0	9	0	38	0	25	121
HSD17B4	3295	broad.mit.edu	37	5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000256216.6	+	19	1760	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	543	Enoyl-CoA hydratase 2.|MaoC-like.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTCTGCCAGGCGTGTGTTACA	0.343																																					Colon(35;490 801 34689 41394 43344)	ENST00000256216.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1627-1629)Cgt>Tgt		hydroxysteroid (17-beta) dehydrogenase 4							178.0	171.0	173.0					5																	118861665		2202	4300	6502	SO:0001583	missense	3295	1	121406	29				g.chr5:118861665C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1627C>T	chr5.hg19:g.118861665C>T	ENSP00000256216:p.Arg543Cys	0					HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C	p.R543C	NM_000414.3	NP_000405.1	1	2	3	2.006602	P51659	DHB4_HUMAN		19	1760	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	1	1	hg19	c.1627C>T	CCDS4126.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.21	5.21	0.72293	5.21	5.21	0.72293	MaoC-like dehydratase (1);	0.140082	0.64402	D	0.000005	T	0.79167	0.4400	N	0.10916	0.065	0.48696	D	0.999692	D;D;D;D;D	0.76494	0.999;0.959;0.994;0.994;0.977	P;P;B;P;B	0.60012	0.825;0.796;0.294;0.867;0.294	D	0.83981	0.0332	10	0.72032	D	0.01	-13.1573	17.5177	0.87779	0.0:1.0:0.0:0.0	.	568;525;519;281;543	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	543;525;519;568;403;406;281	ENSP00000256216:R543C;ENSP00000424613:R525C;ENSP00000424940:R519C;ENSP00000420914:R568C;ENSP00000411960:R403C;ENSP00000425993:R406C;ENSP00000426272:R281C	ENSP00000256216:R543C	R	+	1	0	0	HSD17B4	118889564	118889564	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.714000	0.61902	2.433000	0.82419	0.591000	0.81541	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_000414			81	80		449	445	1		1	1		0	0	106	0		1	1	0	78	0	231	0	81	449
HSD17B4	3295	broad.mit.edu	37	5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000256216.6	+	22	2058	c.1925T>C	c.(1924-1926)gTg>gCg	p.V642A	HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	642	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGGCCTGAGGTGGTGAAGAAA	0.393																																					Colon(35;490 801 34689 41394 43344)	ENST00000256216.6	1.000000	0.870000	1	9.900000e-01	0.990000	0.991410	0.990000	1.000000																										0				25						c.(1924-1926)gTg>gCg		hydroxysteroid (17-beta) dehydrogenase 4							100.0	99.0	99.0					5																	118867031		2202	4300	6502	SO:0001583	missense	3295	0	0					g.chr5:118867031T>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1925T>C	chr5.hg19:g.118867031T>C	ENSP00000256216:p.Val642Ala	0					HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A	p.V642A	NM_000414.3	NP_000405.1	1	2	3	2.006602	P51659	DHB4_HUMAN		22	2058	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	1	1	hg19	c.1925T>C	CCDS4126.1	1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584128	0.46110	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.49	4.3	0.51218	5.49	4.3	0.51218	SCP2 sterol-binding domain (2);	0.123302	0.56097	D	0.000036	T	0.11495	0.0280	N	0.13352	0.335	0.39528	D	0.96862	P;B;B;B;B	0.42692	0.787;0.006;0.01;0.083;0.002	B;B;B;B;B	0.36567	0.228;0.02;0.02;0.06;0.026	T	0.12682	-1.0538	10	0.36615	T	0.2	-2.1711	10.8144	0.46567	0.142:0.0:0.0:0.858	.	667;624;618;380;642	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	642;624;618;667;502;505;380	ENSP00000256216:V642A;ENSP00000424613:V624A;ENSP00000424940:V618A;ENSP00000420914:V667A;ENSP00000411960:V502A;ENSP00000425993:V505A;ENSP00000426272:V380A	ENSP00000256216:V642A	V	+	2	0	0	HSD17B4	118894930	118894930	1.000000	0.71417	0.632000	0.29296	0.966000	0.64601	5.241000	0.65384	0.877000	0.35895	0.528000	0.53228	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	0	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-14.675730	1	0.170000	NM_000414			43	42		388	379	1		1	1		0	0	68	0		1	1	0	37	0	233	0	43	388
PRR16	51334	broad.mit.edu	37	5	119800284	119800284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	ENST00000407149.2	+	1	312	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	35					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					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)		GATCATCGTGGAGGATTTGGA	0.602																																						ENST00000407149.2	1.000000	0.740000	1	9.900000e-01	0.990000	0.982456	0.990000	1.000000																										0				28						c.(103-105)Gag>Aag		proline rich 16							18.0	16.0	17.0					5																	119800284		876	1990	2866	SO:0001583	missense	51334	0	0					g.chr5:119800284G>A	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.103G>A	chr5.hg19:g.119800284G>A	ENSP00000385118:p.Glu35Lys	0					PRR16_ENST00000379551.2_5'UTR	p.E35K			1	2	3	2.006602	Q569H4	LARGN_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	1	312	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	0	1	hg19	c.103G>A		1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445621	0.43429	.	.	ENSG00000184838	ENST00000407149	T	0.49720	0.77	4.57	3.62	0.41486	4.57	3.62	0.41486	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.80722	D	1	B	0.25904	0.137	B	0.29942	0.109	T	0.13602	-1.0503	7	.	.	.	-8.1888	13.2731	0.60172	0.0:0.1604:0.8396:0.0	.	35	Q569H4	PRR16_HUMAN	K	35	ENSP00000385118:E35K	.	E	+	1	0	0	PRR16	119828183	119828183	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.959000	0.63666	2.253000	0.74438	0.561000	0.74099	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-15.682450	1	0.170000	NM_016644			8	8		53	53	0		1	0		0	0	9	0		9.910344e-01	9.660348e-01	0	1	0	42	0	8	53
PRR16	51334	broad.mit.edu	37	5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000407149.2	+	2	848	c.639C>A	c.(637-639)taC>taA	p.Y213*	PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000379551.2_Nonsense_Mutation_p.Y190*			Q569H4	LARGN_HUMAN	proline rich 16	213	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					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)		AAGTACAGTACCATGGCTATT	0.488																																						ENST00000407149.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				28						c.(637-639)taC>taA		proline rich 16							76.0	77.0	77.0					5																	120022128		2203	4300	6503	SO:0001587	stop_gained	51334	0	0					g.chr5:120022128C>A	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.639C>A	chr5.hg19:g.120022128C>A	ENSP00000385118:p.Tyr213*	0					PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000379551.2_Nonsense_Mutation_p.Y190*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*	p.Y213*			1	2	3	2.006602	Q569H4	LARGN_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	2	848	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	D3DSZ0|Q8IXY1|Q9NYI5	Nonsense_Mutation	SNP	ENST00000407149.2	0	1	hg19	c.639C>A		1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721352	0.68959	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.45	4.58	0.56647	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7253	9.7476	0.40457	0.0:0.8394:0.0:0.1606	.	.	.	.	X	213;190;143;143	.	.	Y	+	3	2	2	PRR16	120050027	120050027	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.310000	0.45006	-0.143000	0.13931	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_016644			40	40		210	205	1		1	0		0	0	57	0		1	9.951932e-01	0	0	0	46	0	40	210
FTMT	94033	broad.mit.edu	37	5	121187676	121187676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	6					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697																																						ENST00000321339.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(16-18)agG>agA		ferritin mitochondrial							29.0	33.0	32.0					5																	121187676		2201	4296	6497	SO:0001819	synonymous_variant	94033	0	0					g.chr5:121187676G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.18G>A	chr5.hg19:g.121187676G>A		0						p.R6R	NM_177478.1	NP_803431.1	1	2	3	2.006602	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	1	27	+		all_cancers(142;0.0124)|Prostate(80;0.0322)		Silent	SNP	ENST00000321339.1	1	1	hg19	c.18G>A	CCDS4128.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_177478			85	85		376	375	0		1			0	0	72	0		1	0	0	0	0	0	0	85	376
FTMT	94033	broad.mit.edu	37	5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766																																						ENST00000321339.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				33						c.(154-156)Gcc>Acc		ferritin mitochondrial							6.0	8.0	7.0					5																	121187812		2082	4087	6169	SO:0001583	missense	94033	0	0					g.chr5:121187812G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.154G>A	chr5.hg19:g.121187812G>A	ENSP00000313691:p.Ala52Thr	0						p.A52T	NM_177478.1	NP_803431.1	1	2	3	2.006602	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	1	163	+		all_cancers(142;0.0124)|Prostate(80;0.0322)		Missense_Mutation	SNP	ENST00000321339.1	1	1	hg19	c.154G>A	CCDS4128.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599650	0.28534	.	.	ENSG00000181867	ENST00000321339	T	0.63744	-0.06	3.21	1.22	0.21188	3.21	1.22	0.21188	.	.	.	.	.	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18555	-1.0333	9	0.11485	T	0.65	.	1.9809	0.03426	0.1191:0.1819:0.4801:0.2189	.	52	Q8N4E7	FTMT_HUMAN	T	52	ENSP00000313691:A52T	ENSP00000313691:A52T	A	+	1	0	0	FTMT	121215711	121215711	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.002000	0.13061	0.295000	0.22570	0.460000	0.39030	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.766	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_177478			25	23		119	118	0		1			0	0	22	0		9.999999e-01	0	0	0	0	0	0	25	119
FTMT	94033	broad.mit.edu	37	5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592																																						ENST00000321339.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				33						c.(448-450)Cag>Tag		ferritin mitochondrial							87.0	87.0	87.0					5																	121188106		2203	4300	6503	SO:0001587	stop_gained	94033	0	0					g.chr5:121188106C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.448C>T	chr5.hg19:g.121188106C>T	ENSP00000313691:p.Gln150*	0						p.Q150*	NM_177478.1	NP_803431.1	1	2	3	2.006602	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	1	457	+		all_cancers(142;0.0124)|Prostate(80;0.0322)		Nonsense_Mutation	SNP	ENST00000321339.1	0	1	hg19	c.448C>T	CCDS4128.1	1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352415	0.61293	.	.	ENSG00000181867	ENST00000321339	.	.	.	3.6	0.63	0.17693	3.6	0.63	0.17693	.	0.436377	0.21093	N	0.080300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.77	0.18247	0.3134:0.5831:0.0:0.1035	.	.	.	.	X	150	.	ENSP00000313691:Q150X	Q	+	1	0	0	FTMT	121216005	121216005	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	0.807000	0.27140	0.104000	0.17725	0.655000	0.94253	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	1		2	2	2	0		0	0	111		111	109	1	2.060000	-20.000000	1	0.170000	NM_177478			66	63		464	458	1		1			0	0	111	0		1	0	0	0	0	0	0	66	464
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T	rs562977263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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					ENST00000339397.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R410*(1)	large_intestine(1)	15						c.(1228-1230)Cga>Tga		serum response factor binding protein 1							47.0	45.0	46.0					5																	121362759		1835	4090	5925	SO:0001587	stop_gained	153443	2	120790	34				g.chr5:121362759C>T	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	chr5.hg19:g.121362759C>T	ENSP00000341324:p.Arg410*	0					SRFBP1_ENST00000504881.1_Intron	p.R410*	NM_152546.2	NP_689759.2	1	2	3	2.006602			KIRC - Kidney renal clear cell carcinoma(527;0.206)	8	1300	+		all_cancers(142;0.0124)|Prostate(80;0.0322)		Nonsense_Mutation	SNP	ENST00000339397.4	0	1	hg19	c.1228C>T	CCDS43354.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	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	2	SRFBP1	121390658	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	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.701161	1	0.170000	NM_152546			39	38		152	148	1		1	1		0	0	40	0		1	9.963893e-01	0	8	0	29	0	39	152
ZNF474	133923	broad.mit.edu	37	5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	254							metal ion binding (GO:0046872)			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)		AAATGACCGGCTCCCTGTGGA	0.522																																						ENST00000296600.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(760-762)Ctc>Ttc		zinc finger protein 474							62.0	65.0	64.0					5																	121488445		2203	4300	6503	SO:0001583	missense	133923	0	0					g.chr5:121488445C>T	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.760C>T	chr5.hg19:g.121488445C>T	ENSP00000296600:p.Leu254Phe	0					CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.L254F	NM_207317.1	NP_997200.1	1	2	3	2.006602	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	2	1143	+		all_cancers(142;0.229)|Prostate(80;0.0387)	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	1	1	hg19	c.760C>T	CCDS4130.1	1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002121	0.35320	.	.	ENSG00000164185	ENST00000296600	T	0.54866	0.55	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.38959	U	0.001513	T	0.67683	0.2919	M	0.81497	2.545	0.34481	D	0.703864	D	0.89917	1.0	D	0.75484	0.986	T	0.71820	-0.4477	10	0.15952	T	0.53	-14.7049	8.4188	0.32687	0.0:0.8336:0.0:0.1664	.	254	Q6S9Z5	ZN474_HUMAN	F	254	ENSP00000296600:L254F	ENSP00000296600:L254F	L	+	1	0	0	ZNF474	121516344	121516344	0.950000	0.32346	0.781000	0.31783	0.066000	0.16364	1.862000	0.39448	2.544000	0.85801	0.655000	0.94253	CTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	1	0	1		2	2	2	0		0	0	62		62	58	1	2.060000	-20.000000	1	0.170000	NM_207317			59	54		301	291	1		1	1		0	0	62	0		1	7.406958e-02	0	3	0	0	0	59	301
SNCAIP	9627	broad.mit.edu	37	5	121785597	121785597	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261368.8	+	9	1912	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.Q597Q	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	550					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)			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)		TAGAAGCCCAGAAATCAGAGG	0.428																																						ENST00000261368.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1648-1650)caG>caA		synuclein, alpha interacting protein							158.0	157.0	157.0					5																	121785597		2203	4300	6503	SO:0001819	synonymous_variant	9627	0	0					g.chr5:121785597G>A	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.1650G>A	chr5.hg19:g.121785597G>A		0					SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.Q597Q|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000414317.2_Silent_p.Q152Q	p.Q550Q	NM_005460.2	NP_005451.2	1	2	3	2.006602	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	9	1912	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	1	1	hg19	c.1650G>A	CCDS4131.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000				132	127		521	511	0		1	0		0	0	145	0		1	5.715478e-01	0	0	0	9	0	132	521
SNCAIP	9627	broad.mit.edu	37	5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261368.8	+	10	2460	c.2198T>G	c.(2197-2199)tTt>tGt	p.F733C	SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.F780C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	733					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)			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)		GGACGCAGGTTTCCTTTCAGC	0.542																																						ENST00000261368.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2197-2199)tTt>tGt		synuclein, alpha interacting protein							91.0	93.0	92.0					5																	121786740		2203	4300	6503	SO:0001583	missense	9627	0	0					g.chr5:121786740T>G	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.2198T>G	chr5.hg19:g.121786740T>G	ENSP00000261368:p.Phe733Cys	0					SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.F780C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C	p.F733C	NM_005460.2	NP_005451.2	1	2	3	2.006602	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	10	2460	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	1	1	hg19	c.2198T>G	CCDS4131.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327484|2.327484	0.41197|0.41197	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317|ENST00000447854	T;T;T;T;T;T;T;T|.	0.15603|.	4.27;4.81;2.47;2.41;4.8;4.74;2.41;4.48|.	6.06|6.06	6.06|6.06	0.98353|0.98353	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.052577|0.052577	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76751|0.76751	0.4031|0.4031	M|M	0.75777|0.75777	2.31|2.31	0.44587|0.44587	D|D	0.99755|0.99755	D;D;B;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.056;1.0;1.0;1.0;0.999;0.999|.	D;D;B;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.117;0.964;0.998;0.964;0.994;0.921|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|7	0.87932|0.72032	D|D	0|0.01	-23.2289|-23.2289	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	673;361;335;673;367;367;780;733|.	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5|.	.;.;.;.;.;.;.;SNCAP_HUMAN|.	C|V	291;673;733;780;673;367;780;335|356	ENSP00000441681:F291C;ENSP00000422106:F673C;ENSP00000261368:F733C;ENSP00000368848:F780C;ENSP00000368851:F673C;ENSP00000368854:F367C;ENSP00000261367:F780C;ENSP00000394392:F335C|.	ENSP00000261367:F780C|ENSP00000416985:F356V	F|F	+|+	2|1	0|0	0|0	SNCAIP|SNCAIP	121814639|121814639	121814639|121814639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.291000|0.291000	0.27294|0.27294	4.731000|4.731000	0.62022|0.62022	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				54	53		222	215	1		1	0		0	0	67	0		1	1.029628e-01	0	0	0	3	0	54	222
SNCAIP	9627	broad.mit.edu	37	5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261368.8	+	10	2599	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Q826H	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	779					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)			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)		GTGACCCTCAGCAGCCCAGCC	0.547																																						ENST00000261368.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2335-2337)caG>caT		synuclein, alpha interacting protein							56.0	60.0	59.0					5																	121786879		2203	4300	6503	SO:0001583	missense	9627	0	0					g.chr5:121786879G>T	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.2337G>T	chr5.hg19:g.121786879G>T	ENSP00000261368:p.Gln779His	0					SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Q826H|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H	p.Q779H	NM_005460.2	NP_005451.2	1	2	3	2.006602	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	10	2599	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	1	1	hg19	c.2337G>T	CCDS4131.1	1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228979	0.01518	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.12672	4.47;4.99;2.7;2.66;4.99;4.98;2.66;4.69	5.87	-5.2	0.02823	5.87	-5.2	0.02823	.	0.665589	0.15287	N	0.270390	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.32507	0.0;0.0;0.001;0.164;0.003;0.164;0.373;0.161	B;B;B;B;B;B;B;B	0.30401	0.0;0.0;0.0;0.115;0.001;0.115;0.09;0.033	T	0.37267	-0.9713	10	0.21014	T	0.42	-0.3089	0.1661	0.00108	0.3158:0.1818:0.2432:0.2593	.	719;407;381;719;413;413;826;779	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	H	337;719;779;826;719;413;826;381	ENSP00000441681:Q337H;ENSP00000422106:Q719H;ENSP00000261368:Q779H;ENSP00000368848:Q826H;ENSP00000368851:Q719H;ENSP00000368854:Q413H;ENSP00000261367:Q826H;ENSP00000394392:Q381H	ENSP00000261367:Q826H	Q	+	3	2	2	SNCAIP	121814778	121814778	0.038000	0.19896	0.224000	0.23877	0.003000	0.03518	-0.023000	0.12456	-0.369000	0.08028	-1.551000	0.00897	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	0		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000				52	52		202	193	1		1	0		0	0	47	0		1	1.111585e-01	0	0	0	3	0	52	202
SNX2	6643	broad.mit.edu	37	5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000379516.2	+	9	910	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.P151S	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	268	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			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)		ATTCCAGCTGCCTAGAGCAGT	0.488																																						ENST00000379516.2	1.000000	0.320000	1	4.900000e-01	0.720000	0.732729	0.720000	1.000000																										0				19						c.(802-804)Cct>Tct		sorting nexin 2							48.0	47.0	47.0					5																	122152613		2203	4300	6503	SO:0001583	missense	6643	0	0					g.chr5:122152613C>T	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.802C>T	chr5.hg19:g.122152613C>T	ENSP00000368831:p.Pro268Ser	0					SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	p.P268S	NM_003100.2	NP_003091.2	1	2	3	2.006602	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	9	910	+		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)	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	1	1	hg19	c.802C>T	CCDS34217.1	0	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532860	0.85812	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.22945	2.0;1.93	5.93	5.93	0.95920	5.93	5.93	0.95920	Phox homologous domain (2);	0.102077	0.64402	D	0.000001	T	0.56016	0.1957	M	0.90252	3.1	0.80722	D	1	P	0.51537	0.946	P	0.55260	0.772	T	0.63761	-0.6564	10	0.87932	D	0	-8.4387	20.3334	0.98727	0.0:1.0:0.0:0.0	.	268	O60749	SNX2_HUMAN	S	268;151	ENSP00000368831:P268S;ENSP00000421663:P151S	ENSP00000368831:P268S	P	+	1	0	0	SNX2	122180512	122180512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.818000	0.97014	0.591000	0.81541	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-10.825550	1	0.170000	NM_003100			7	7		115	115	0		1	1		0	0	29	0		9.816246e-01	9.990854e-01	0	8	0	233	0	7	115
SNX24	28966	broad.mit.edu	37	5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	138					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTGTTCCTCAGGGATCCATAT	0.483																																						ENST00000261369.4	1.000000	0.310000	6.100000e-01	3.900000e-01	0.480000	0.523724	0.480000	0.480000																										0				5						c.(412-414)aGg>aTg		sorting nexin 24							174.0	151.0	159.0					5																	122337670		2203	4300	6503	SO:0001583	missense	28966	0	0					g.chr5:122337670G>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.413G>T	chr5.hg19:g.122337670G>T	ENSP00000261369:p.Arg138Met	0					SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	p.R138M	NM_014035.2	NP_054754.1	1	2	3	2.006602	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	6	598	+		Prostate(80;0.0387)	Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	1	1	hg19	c.413G>T	CCDS4132.1	0	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878300	0.72294	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.64803	-0.08;-0.12;-0.12	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.038056	0.85682	D	0.000000	T	0.73125	0.3547	L	0.39397	1.21	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;D	0.66847	0.839;0.947	T	0.69654	-0.5087	10	0.42905	T	0.14	-16.5217	20.5632	0.99335	0.0:0.0:1.0:0.0	.	138;138	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	M	138;138;171;138	ENSP00000261369:R138M;ENSP00000424149:R138M;ENSP00000422535:R138M	ENSP00000261369:R138M	R	+	2	0	0	SNX24	122365569	122365569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.937000	0.99478	0.650000	0.86243	AGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	0	0	0		2	2	2	0		0	0	118		118	118	1	2.060000	-2.396745	0	0.170000	NM_014035			25	24		602	592	1		1	1		0	0	118	0		9.999998e-01	8.811841e-01	0	12	0	80	0	25	602
PPIC	5480	broad.mit.edu	37	5	122361664	122361664	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)						protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999288	0.990000	1.000000																										0				6						c.e4-1		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						65.0	53.0	57.0					5																	122361664		2203	4300	6503	SO:0001630	splice_region_variant	5480	0	0					g.chr5:122361664C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.326-1G>T	chr5.hg19:g.122361664C>A		0							NM_000943.4	NP_000934.1	1	2	3	2.006602	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	4	441	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	A4LBB5	Splice_Site	SNP	ENST00000306442.4	1	1	hg19		CCDS4133.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.436279	0.96168	.	.	ENSG00000168938	ENST00000306442	.	.	.	6.02	5.16	0.70880	6.02	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.403	0.74855	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	.	PPIC	122389563	122389563	1.000000	0.71417	0.408000	0.26446	0.990000	0.78478	7.449000	0.80643	1.565000	0.49641	0.655000	0.94253	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_000943	Intron		20	20		117	116	1		1	1		0	0	24	0		9.999970e-01	6.347824e-01	0	10	0	4	0	20	117
CEP120	153241	broad.mit.edu	37	5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000306481.6_Missense_Mutation_p.R730C|CEP120_ENST00000328236.5_Missense_Mutation_p.R756C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	756					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)				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						TTGGCCCTACGGATAGAGTCC	0.428																																						ENST00000306467.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2266-2268)Cgt>Tgt		centrosomal protein 120kDa							203.0	184.0	191.0					5																	122713160		2203	4300	6503	SO:0001583	missense	153241	0	0					g.chr5:122713160G>A	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.2266C>T	chr5.hg19:g.122713160G>A	ENSP00000303058:p.Arg756Cys	0					CEP120_ENST00000306481.6_Missense_Mutation_p.R730C|CEP120_ENST00000328236.5_Missense_Mutation_p.R756C	p.R756C			1	2	3	2.006602	Q8N960	CE120_HUMAN		16	2570	-			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	1	1	hg19	c.2266C>T	CCDS4134.2	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392292	0.62066	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.76162	-0.3060	10	0.87932	D	0	-14.5195	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	756	Q8N960	CE120_HUMAN	C	756;756;730;730	ENSP00000303058:R756C;ENSP00000327504:R756C;ENSP00000307419:R730C;ENSP00000421620:R730C	ENSP00000303058:R756C	R	-	1	0	0	CEP120	122741059	122741059	1.000000	0.71417	0.872000	0.34217	0.718000	0.41266	4.425000	0.59875	2.767000	0.95098	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-2.464753	0	0.170000	NM_153223			131	129		542	532	1		1	1		0	0	113	0		1	9.999044e-01	0	8	0	49	0	131	542
CEP120	153241	broad.mit.edu	37	5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	594					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)				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						GAAAGATCTGCTATCCTGTTA	0.279																																						ENST00000306467.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				29						c.(1780-1782)Gca>Aca		centrosomal protein 120kDa							39.0	39.0	39.0					5																	122718760		2196	4292	6488	SO:0001583	missense	153241	0	0					g.chr5:122718760C>T	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.1780G>A	chr5.hg19:g.122718760C>T	ENSP00000303058:p.Ala594Thr	0					CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T	p.A594T			1	2	3	2.006602	Q8N960	CE120_HUMAN		12	2084	-			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	1	1	hg19	c.1780G>A	CCDS4134.2	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099312	0.56183	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	3.03	0.35002	5.92	3.03	0.35002	.	0.473474	0.22445	N	0.059966	T	0.46483	0.1395	M	0.66939	2.045	0.80722	D	1	B	0.32893	0.389	B	0.34824	0.19	T	0.39921	-0.9590	10	0.56958	D	0.05	-7.3561	10.6681	0.45743	0.1186:0.8029:0.0:0.0785	.	594	Q8N960	CE120_HUMAN	T	594;594;568;568	ENSP00000303058:A594T;ENSP00000327504:A594T;ENSP00000307419:A568T;ENSP00000421620:A568T	ENSP00000303058:A594T	A	-	1	0	0	CEP120	122746659	122746659	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.883000	0.28200	0.292000	0.22492	0.650000	0.86243	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_153223			22	22		103	101	1		1	1		0	0	27	0		9.999993e-01	9.994072e-01	0	5	0	55	0	22	103
CEP120	153241	broad.mit.edu	37	5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	547					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)				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						CTCGCAATTCCCAGAAGTAAA	0.373																																						ENST00000306467.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1639-1641)Gga>Aga		centrosomal protein 120kDa							119.0	118.0	118.0					5																	122720769		2203	4300	6503	SO:0001583	missense	153241	0	0					g.chr5:122720769C>T	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.1639G>A	chr5.hg19:g.122720769C>T	ENSP00000303058:p.Gly547Arg	0					CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R	p.G547R			1	2	3	2.006602	Q8N960	CE120_HUMAN		11	1943	-			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	1	1	hg19	c.1639G>A	CCDS4134.2	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047955	0.93740	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.057822	0.64402	D	0.000002	D	0.88566	0.6471	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89155	0.3526	10	0.87932	D	0	-24.5401	19.6568	0.95845	0.0:1.0:0.0:0.0	.	547	Q8N960	CE120_HUMAN	R	547;547;521;521	ENSP00000303058:G547R;ENSP00000327504:G547R;ENSP00000307419:G521R;ENSP00000421620:G521R	ENSP00000303058:G547R	G	-	1	0	0	CEP120	122748668	122748668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.656000	0.90262	0.650000	0.86243	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.470858	1	0.170000	NM_153223			68	68		248	244	1		1	1		0	0	58	0		1	9.999964e-01	0	16	0	54	0	68	248
CEP120	153241	broad.mit.edu	37	5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	193					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)				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						ATGGTCACTGACATAATAAAG	0.428																																						ENST00000306467.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(577-579)Tca>Gca		centrosomal protein 120kDa							94.0	94.0	94.0					5																	122734865		2032	4192	6224	SO:0001583	missense	153241	0	0					g.chr5:122734865A>C	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.577T>G	chr5.hg19:g.122734865A>C	ENSP00000303058:p.Ser193Ala	0					CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A	p.S193A			1	2	3	2.006602	Q8N960	CE120_HUMAN		5	881	-			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	1	1	hg19	c.577T>G	CCDS4134.2	1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361882	0.61403	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.52983	1.96;1.96;1.96;0.64	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66337	-0.5949	10	0.40728	T	0.16	-15.2477	16.0663	0.80878	1.0:0.0:0.0:0.0	.	193	Q8N960	CE120_HUMAN	A	193;193;167;167;193	ENSP00000303058:S193A;ENSP00000327504:S193A;ENSP00000307419:S167A;ENSP00000421620:S167A	ENSP00000303058:S193A	S	-	1	0	0	CEP120	122762764	122762764	1.000000	0.71417	0.847000	0.33407	0.085000	0.17905	9.310000	0.96267	2.201000	0.70794	0.533000	0.62120	TCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_153223			55	54		311	307	1		1	1		0	0	96	0		1	9.960710e-01	0	3	0	47	0	55	311
SLC6A18	348932	broad.mit.edu	37	5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T	rs368718926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	120					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCATCGTGGCGTGGGTGCTG	0.652																																						ENST00000324642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(358-360)gCg>gTg		solute carrier family 6 (neutral amino acid transporter), member 18		C	VAL/ALA	0,4406		0,0,2203	141.0	111.0	121.0		359	-1.1	0.0	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A18	NM_182632.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	120/629	1232923	1,13005	2203	4300	6503	SO:0001583	missense	348932	12	121408	42				g.chr5:1232923C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.359C>T	chr5.hg19:g.1232923C>T	ENSP00000323549:p.Ala120Val	0					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	p.A120V	NM_182632.2	NP_872438.2	0	0	0	1.967783	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	3	482	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)			Missense_Mutation	SNP	ENST00000324642.3	1	1	hg19	c.359C>T	CCDS3860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583854	0.28268	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.79454	-1.27;-1.27	5.09	-1.09	0.09904	5.09	-1.09	0.09904	.	1.103530	0.06848	N	0.796804	T	0.76807	0.4039	M	0.82630	2.6	0.09310	N	1	B	0.24258	0.1	B	0.25506	0.061	T	0.65998	-0.6032	10	0.66056	D	0.02	.	5.6151	0.17426	0.0:0.4704:0.1309:0.3987	.	120	Q96N87	S6A18_HUMAN	V	120	ENSP00000323549:A120V;ENSP00000296821:A120V	ENSP00000296821:A120V	A	+	2	0	0	SLC6A18	1285923	1285923	0.004000	0.15560	0.002000	0.10522	0.056000	0.15407	1.822000	0.39052	-0.003000	0.14444	-0.438000	0.05819	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_182632			101	101		429	420	1		1			0	0	93	0		1	0	0	0	0	0	0	101	429
CEP120	153241	broad.mit.edu	37	5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000328236.5_Missense_Mutation_p.R72H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	72					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)				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						GATAGGAGTACGCTGTAGCCT	0.338																																						ENST00000306467.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999799	0.990000	1.000000																										0				29						c.(214-216)cGt>cAt		centrosomal protein 120kDa							81.0	72.0	75.0					5																	122751810		1839	4088	5927	SO:0001583	missense	153241	0	0					g.chr5:122751810C>T	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.215G>A	chr5.hg19:g.122751810C>T	ENSP00000303058:p.Arg72His	0					CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000328236.5_Missense_Mutation_p.R72H	p.R72H			1	2	3	2.006602	Q8N960	CE120_HUMAN		3	519	-			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	1	1	hg19	c.215G>A	CCDS4134.2	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603365	0.87157	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56776	1.76;1.76;1.76;0.44	5.43	5.43	0.79202	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.38643	T	0.18	-13.5642	18.3703	0.90405	0.0:1.0:0.0:0.0	.	72	Q8N960	CE120_HUMAN	H	72;72;46;46;72	ENSP00000303058:R72H;ENSP00000327504:R72H;ENSP00000307419:R46H;ENSP00000421620:R46H	ENSP00000303058:R72H	R	-	2	0	0	CEP120	122779709	122779709	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.807000	0.75201	2.700000	0.92200	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_153223			23	23		126	122	1		1	1		0	0	18	0		9.999995e-01	9.649495e-01	0	8	0	25	0	23	126
SLC6A18	348932	broad.mit.edu	37	5	1240706	1240706	+	Silent	SNP	C	C	T	rs149285920	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	302					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCCTGTACGCGTCCATCG	0.592																																						ENST00000324642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(904-906)taC>taT		solute carrier family 6 (neutral amino acid transporter), member 18		C		1,4405	2.1+/-5.4	0,1,2202	203.0	145.0	165.0		906	-5.2	0.2	5	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	SLC6A18	NM_182632.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		302/629	1240706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	348932	2	121412	38				g.chr5:1240706C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.906C>T	chr5.hg19:g.1240706C>T		0					SLC6A18_ENST00000296821.4_Silent_p.Y297Y	p.Y302Y	NM_182632.2	NP_872438.2	0	0	0	1.967783	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	7	1029	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)			Silent	SNP	ENST00000324642.3	1	1	hg19	c.906C>T	CCDS3860.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_182632			87	85		288	285	1		1			0	0	73	0		1	0	0	0	0	0	0	87	288
SLC6A18	348932	broad.mit.edu	37	5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	329					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTCAGCCTCATCAAC	0.587																																						ENST00000324642.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(985-987)aGc>aTc		solute carrier family 6 (neutral amino acid transporter), member 18							181.0	144.0	156.0					5																	1242833		2203	4300	6503	SO:0001583	missense	348932	0	0					g.chr5:1242833G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.986G>T	chr5.hg19:g.1242833G>T	ENSP00000323549:p.Ser329Ile	0					SLC6A18_ENST00000296821.4_Intron	p.S329I	NM_182632.2	NP_872438.2	0	0	0	1.967783	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	8	1109	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)			Missense_Mutation	SNP	ENST00000324642.3	1	1	hg19	c.986G>T	CCDS3860.1	1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306277	0.01353	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	-2.25	0.06888	4.71	-2.25	0.06888	.	0.911571	0.09481	N	0.796400	T	0.44746	0.1308	N	0.10733	0.035	0.09310	N	1	B	0.25772	0.134	B	0.23018	0.043	T	0.21724	-1.0237	10	0.18276	T	0.48	.	1.7053	0.02881	0.1583:0.129:0.3165:0.3962	.	329	Q96N87	S6A18_HUMAN	I	329	ENSP00000323549:S329I	ENSP00000323549:S329I	S	+	2	0	0	SLC6A18	1295833	1295833	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.223000	0.17719	-0.985000	0.03503	-0.268000	0.10319	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.175495	1	0.170000	NM_182632			51	50		256	252	1		1			0	0	81	0		1	0	0	0	0	0	0	51	256
TERT	7015	broad.mit.edu	37	5	1254618	1254618	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	ENST00000310581.5	-	15	3217	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_ENST00000334602.6_Missense_Mutation_p.M991V|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1054	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCCAGCGACATCCCTGGGGGA	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				41						c.(3160-3162)Atg>Gtg		telomerase reverse transcriptase	Zidovudine(DB00495)						17.0	21.0	20.0					5																	1254618		2072	4211	6283	SO:0001583	missense	7015	0	0		TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	g.chr5:1254618T>C	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3160A>G	chr5.hg19:g.1254618T>C	ENSP00000309572:p.Met1054Val	0					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	p.M1054V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	0	0	0	1.967783	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	15	3217	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	0	1	hg19	c.3160A>G	CCDS3861.2	1	.	.	.	.	.	.	.	.	.	.	t	0.061	-1.224119	0.01530	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96073	-3.9;-3.8	4.28	-5.67	0.02444	4.28	-5.67	0.02444	.	0.735512	0.13043	N	0.418388	D	0.83238	0.5211	N	0.13352	0.335	0.20563	N	0.999882	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.75923	-0.3146	10	0.09590	T	0.72	-12.4951	2.127	0.03741	0.1326:0.3539:0.2934:0.2201	.	991;1054	O14746-3;O14746	.;TERT_HUMAN	V	1054;991	ENSP00000309572:M1054V;ENSP00000334346:M991V	ENSP00000309572:M1054V	M	-	1	0	0	TERT	1307618	1307618	0.000000	0.05858	0.016000	0.15963	0.115000	0.19883	-2.797000	0.00763	-0.529000	0.06358	0.397000	0.26171	ATG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000				29	29		109	107	0		1		1	0	0	28	555		1	0	1	0	115	0	514	29	109
ZNF608	57507	broad.mit.edu	37	5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	473							metal ion binding (GO:0046872)			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)		TGGCATTGAGGCTGCCCCGCC	0.592																																						ENST00000306315.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1417-1419)agC>agA		zinc finger protein 608							75.0	77.0	76.0					5																	123984658		2203	4300	6503	SO:0001583	missense	57507	0	0					g.chr5:123984658G>T	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.1419C>A	chr5.hg19:g.123984658G>T	ENSP00000307746:p.Ser473Arg	0					ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	p.S473R	NM_020747.2	NP_065798.2	1	2	3	2.006602	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	4	1854	-		all_cancers(142;0.186)|Prostate(80;0.081)	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	1	1	hg19	c.1419C>A	CCDS34219.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158379	0.78114	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.53640	0.64;0.61	5.26	4.36	0.52297	5.26	4.36	0.52297	.	0.092629	0.85682	D	0.000000	T	0.45074	0.1324	L	0.45137	1.4	0.44036	D	0.996768	P	0.44429	0.835	B	0.44224	0.444	T	0.47086	-0.9144	10	0.72032	D	0.01	-19.4122	12.8537	0.57873	0.0817:0.0:0.9183:0.0	.	473	Q9ULD9	ZN608_HUMAN	R	46;473;473;473	ENSP00000427657:S46R;ENSP00000307746:S473R	ENSP00000307746:S473R	S	-	3	2	2	ZNF608	124012557	124012557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	1.161000	0.42604	0.544000	0.68410	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	XM_114432			105	100		485	473	1		1	1		0	0	115	0		1	7.018865e-01	0	3	0	10	0	105	485
ALDH7A1	501	broad.mit.edu	37	5	125889982	125889982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125889982G>A	ENST00000409134.3	-	13	1416	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	ALDH7A1_ENST00000553117.1_Intron|RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000447989.2_Intron	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	399					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)			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)		CCCTTACCTTGCCCCCATAGA	0.493																																						ENST00000409134.3	1.000000	0.110000	3.200000e-01	1.600000e-01	0.220000	0.285150	0.220000	0.210000																										0				16						c.(1195-1197)ggC>ggT		aldehyde dehydrogenase 7 family, member A1							213.0	171.0	185.0					5																	125889982		2203	4300	6503	SO:0001819	synonymous_variant	501	0	0					g.chr5:125889982G>A	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.1197C>T	chr5.hg19:g.125889982G>A		0					ALDH7A1_ENST00000447989.2_Intron|RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Intron	p.G399G	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	1	2	3	2.006602	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	13	1416	-		all_cancers(142;0.24)|Prostate(80;0.081)	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	0	1	hg19	c.1197C>T	CCDS4137.2	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	0	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-2.487589	0	0.170000	NM_001182			12	12		654	640	0		1	0		0	0	148	0		9.990009e-01	6.713714e-01	0	1	0	123	0	12	654
TEX43	389320	broad.mit.edu	37	5	125971724	125971724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		66										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TTTCTCTTAGCAAGCAGAAGT	0.403																																						ENST00000357147.3	1.000000	0.340000	6.000000e-01	4.100000e-01	0.490000	0.528894	0.490000	0.480000																										0				7						c.(196-198)Caa>Taa									130.0	136.0	134.0					5																	125971724		2203	4300	6503	SO:0001630	splice_region_variant	0	0	0					g.chr5:125971724C>T																												ENST00000357147.3:c.196-1C>T	chr5.hg19:g.125971724C>T		0						p.Q66*	NM_207408.1	NP_997291.1	1	2	3	2.006602	Q6ZNM6	TEX43_HUMAN		3	209	+				Splice_Site	SNP	ENST00000357147.3	0	1	hg19	c.196C>T	CCDS4139.1	0	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942344	0.34283	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	2.4	0.29515	4.29	2.4	0.29515	.	0.965309	0.08542	N	0.930383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9417	11.0187	0.47705	0.3391:0.6609:0.0:0.0	.	.	.	.	X	66	.	.	Q	+	1	0	0	C5orf48	125999623	125999623	0.639000	0.27234	0.152000	0.22495	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	0.462000	0.41574	CAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1	0	0	1		2	2	2	0		0	0	160		160	160	1	2.060000	-4.038233	1	0.170000		Nonsense_Mutation		37	37		872	844	0		1			0	0	160	0		1	0	0	0	0	0	0	37	872
MEGF10	84466	broad.mit.edu	37	5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	70	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413																																						ENST00000274473.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(208-210)Acg>Gcg		multiple EGF-like-domains 10							110.0	96.0	101.0					5																	126674903		2203	4299	6502	SO:0001583	missense	84466	0	0					g.chr5:126674903A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.208A>G	chr5.hg19:g.126674903A>G	ENSP00000274473:p.Thr70Ala	0					MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A	p.T70A	NM_032446.2	NP_115822.1	1	2	3	2.006602	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	4	475	+		Prostate(80;0.165)	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	1	1	hg19	c.208A>G	CCDS4142.1	1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619901	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80304	-1.36;2.6;2.6;-1.36	5.91	5.91	0.95273	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.40543	1.245	0.80722	D	1	P;D	0.57571	0.875;0.98	P;D	0.64595	0.729;0.927	T	0.80178	-0.1490	10	0.19147	T	0.46	-9.5407	15.3262	0.74164	1.0:0.0:0.0:0.0	.	70;70	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	70	ENSP00000423354:T70A;ENSP00000423195:T70A;ENSP00000416284:T70A;ENSP00000274473:T70A	ENSP00000274473:T70A	T	+	1	0	0	MEGF10	126702802	126702802	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	9.165000	0.94761	2.269000	0.75478	0.533000	0.62120	ACG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_032446			77	76		328	324	1		1			0	0	73	0		1	0	0	0	0	0	0	77	328
MEGF10	84466	broad.mit.edu	37	5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T	rs374111304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	558	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCCATTGCCGCTGCCTCCC	0.567																																						ENST00000274473.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				68						c.(1672-1674)Cgc>Tgc		multiple EGF-like-domains 10		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	31.0	30.0	30.0		1672	5.3	1.0	5		30	0,8600		0,0,4300	no	missense	MEGF10	NM_032446.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	558/1141	126758443	1,13005	2203	4300	6503	SO:0001583	missense	84466	2	121410	31				g.chr5:126758443C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1672C>T	chr5.hg19:g.126758443C>T	ENSP00000274473:p.Arg558Cys	0					MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C	p.R558C	NM_032446.2	NP_115822.1	1	2	3	2.006602	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	14	1939	+		Prostate(80;0.165)	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	1	1	hg19	c.1672C>T	CCDS4142.1	1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677266	0.68042	2.27E-4	0.0	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.28	5.28	0.74379	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.51422	1.61	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.19946	0.005;0.027	T	0.34153	-0.9840	10	0.37606	T	0.19	-36.2978	19.2744	0.94026	0.0:1.0:0.0:0.0	.	558;558	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	558	ENSP00000423354:R558C;ENSP00000423195:R558C;ENSP00000416284:R558C;ENSP00000274473:R558C	ENSP00000274473:R558C	R	+	1	0	0	MEGF10	126786342	126786342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.636000	0.89361	0.650000	0.86243	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_032446			34	33		181	178	1		1			0	0	36	0		1	0	0	0	0	0	0	34	181
MEGF10	84466	broad.mit.edu	37	5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413																																						ENST00000274473.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2059-2061)tCt>tTt		multiple EGF-like-domains 10							119.0	98.0	105.0					5																	126771137		2203	4300	6503	SO:0001583	missense	84466	0	0					g.chr5:126771137C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2060C>T	chr5.hg19:g.126771137C>T	ENSP00000274473:p.Ser687Phe	0					MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	p.S687F	NM_032446.2	NP_115822.1	1	2	3	2.006602	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	17	2327	+		Prostate(80;0.165)	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	1	1	hg19	c.2060C>T	CCDS4142.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.254404	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56941	0.43;0.43	6.04	6.04	0.98038	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77054	0.4074	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.78226	-0.2286	10	0.56958	D	0.05	-22.7363	20.5948	0.99439	0.0:1.0:0.0:0.0	.	687	Q96KG7	MEG10_HUMAN	F	687	ENSP00000423354:S687F;ENSP00000274473:S687F	ENSP00000274473:S687F	S	+	2	0	0	MEGF10	126799036	126799036	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.747000	0.85070	2.873000	0.98535	0.563000	0.77884	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_032446			32	30		129	128	1		1	0		0	0	42	0		1	0	0	0	0	1	0	32	129
PRRC1	133619	broad.mit.edu	37	5	126887430	126887430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887430T>G	ENST00000296666.8	+	9	1348	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R|PRRC1_ENST00000442138.2_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	387						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GACTATAATCTGAGGTGGTCA	0.408																																						ENST00000296666.8	1.000000	0.130000	4.600000e-01	2.000000e-01	0.300000	0.358464	0.300000	0.270000																										0				6						c.(1159-1161)cTg>cGg		proline-rich coiled-coil 1							74.0	77.0	76.0					5																	126887430		2203	4300	6503	SO:0001583	missense	133619	0	0					g.chr5:126887430T>G	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1160T>G	chr5.hg19:g.126887430T>G	ENSP00000296666:p.Leu387Arg	0					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R	p.L387R	NM_130809.3	NP_570721.1	1	2	3	2.006602	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	9	1348	+		Prostate(80;0.165)	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	0	1	hg19	c.1160T>G	CCDS4143.1	0	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470550	0.84533	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.77987	0.4213	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.81050	-0.1108	9	0.87932	D	0	-15.0353	14.3682	0.66820	0.0:0.0:0.0:1.0	.	387	Q96M27	PRRC1_HUMAN	R	387	.	ENSP00000296666:L387R	L	+	2	0	0	PRRC1	126915329	126915329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.170000	0.68504	0.455000	0.32223	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	0	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-7.926523	1	0.170000	NM_130809			7	7		294	289	0		1	1		0	0	46	0		9.797507e-01	9.727927e-01	0	5	0	267	0	7	294
PRRC1	133619	broad.mit.edu	37	5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*|PRRC1_ENST00000442138.2_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	389						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428																																						ENST00000296666.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(1165-1167)tgG>tgA		proline-rich coiled-coil 1							78.0	81.0	80.0					5																	126887437		2203	4300	6503	SO:0001587	stop_gained	133619	0	0					g.chr5:126887437G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1167G>A	chr5.hg19:g.126887437G>A	ENSP00000296666:p.Trp389*	0					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*	p.W389*	NM_130809.3	NP_570721.1	1	2	3	2.006602	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	9	1355	+		Prostate(80;0.165)	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Nonsense_Mutation	SNP	ENST00000296666.8	0	1	hg19	c.1167G>A	CCDS4143.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.613731	0.97705	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1058	17.8626	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000296666:W389X	W	+	3	0	0	PRRC1	126915336	126915336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.687000	0.91594	0.557000	0.71058	TGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	1	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_130809			55	54		242	238	1		1	1		0	0	46	0		1	1	0	49	0	211	0	55	242
SLC12A2	6558	broad.mit.edu	37	5	127484510	127484510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127484510A>G	ENST00000262461.2	+	12	2135	c.1946A>G	c.(1945-1947)aAt>aGt	p.N649S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	649					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)			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)	GGGAAAAATAATGAACCTCTT	0.318																																						ENST00000262461.2	1.000000	0.150000	3.600000e-01	2.000000e-01	0.270000	0.326380	0.270000	0.260000																										0				48						c.(1945-1947)aAt>aGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)						183.0	185.0	184.0					5																	127484510		2203	4299	6502	SO:0001583	missense	6558	0	0					g.chr5:127484510A>G		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.1946A>G	chr5.hg19:g.127484510A>G	ENSP00000262461:p.Asn649Ser	0					SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	p.N649S	NM_001046.2	NP_001037.1	1	2	3	2.006602	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	12	2135	+		all_cancers(142;0.0972)|Prostate(80;0.151)	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	1	1	hg19	c.1946A>G	CCDS4144.1	0	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357851	0.61403	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98762	-5.12;-5.12	4.8	4.8	0.61643	4.8	4.8	0.61643	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.71206	2.165	0.80722	D	1	B;B	0.29378	0.204;0.243	B;B	0.31686	0.082;0.134	D	0.97767	1.0224	10	0.48119	T	0.1	.	14.7822	0.69774	1.0:0.0:0.0:0.0	.	649;649	P55011-3;P55011	.;S12A2_HUMAN	S	649	ENSP00000262461:N649S;ENSP00000340878:N649S	ENSP00000262461:N649S	N	+	2	0	0	SLC12A2	127512409	127512409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.142000	0.66516	0.477000	0.44152	AAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-3.372441	1	0.170000	NM_001046			16	15		714	710	0		1	1		0	0	119	0		9.999287e-01	6.967676e-01	0	6	0	102	0	16	714
SLC12A2	6558	broad.mit.edu	37	5	127497402	127497402	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	842					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)			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)	AAGCCAAATATCAGCGATGGC	0.353																																						ENST00000262461.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999055	0.990000	1.000000																										0				48						c.(2524-2526)taT>taC		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)						62.0	57.0	59.0					5																	127497402		2203	4299	6502	SO:0001819	synonymous_variant	6558	0	0					g.chr5:127497402T>C		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.2526T>C	chr5.hg19:g.127497402T>C		0					SLC12A2_ENST00000343225.4_Silent_p.Y842Y	p.Y842Y	NM_001046.2	NP_001037.1	1	2	3	2.006602	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	17	2715	+		all_cancers(142;0.0972)|Prostate(80;0.151)	Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	0	1	hg19	c.2526T>C	CCDS4144.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-10.639620	1	0.170000	NM_001046			13	13		61	61	1		1	1		0	0	15	0		9.997005e-01	9.999967e-01	0	36	0	95	0	13	61
FBN2	2201	broad.mit.edu	37	5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; 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)			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)		TCGGGCCTTCGGGCCATTCCA	0.517																																						ENST00000508053.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				197						c.(6985-6987)Cga>Tga		fibrillin 2							146.0	123.0	131.0					5																	127622437		2203	4300	6503	SO:0001587	stop_gained	2201	0	0					g.chr5:127622437G>A	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.6985C>T	chr5.hg19:g.127622437G>A	ENSP00000424571:p.Arg2329*	0					FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*	p.R2329*			1	2	3	2.006602	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	61	7959	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	0	1	hg19	c.6985C>T	CCDS34222.1	1	.	.	.	.	.	.	.	.	.	.	G	50	16.171019	0.99856	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.34	4.44	0.53790	5.34	4.44	0.53790	.	0.116516	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5877	0.76499	0.0:0.0:0.8614:0.1386	.	.	.	.	X	2329	.	ENSP00000262464:R2329X	R	-	1	2	2	FBN2	127650336	127650336	0.997000	0.39634	0.992000	0.48379	0.481000	0.33189	4.601000	0.61090	1.557000	0.49525	0.650000	0.86243	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.589656	1	0.170000	NM_001999			50	49		233	226	1		1	0		0	0	61	0		1	0	0	0	0	1	0	50	233
FBN2	2201	broad.mit.edu	37	5	127671238	127671238	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127671238G>T	ENST00000508053.1	-	35	4730	c.3756C>A	c.(3754-3756)ggC>ggA	p.G1252G	FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000507835.1_Silent_p.G102G			P35556	FBN2_HUMAN	fibrillin 2	1252	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		GGGTGTCACAGCCTCCGTTCA	0.438																																						ENST00000508053.1	1.000000	0.260000	4.900000e-01	3.200000e-01	0.390000	0.437357	0.390000	0.380000																										0				197						c.(3754-3756)ggC>ggA		fibrillin 2							167.0	157.0	160.0					5																	127671238		2203	4300	6503	SO:0001819	synonymous_variant	2201	0	0					g.chr5:127671238G>T	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.3756C>A	chr5.hg19:g.127671238G>T		0					FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000507835.1_Silent_p.G102G	p.G1252G			1	2	3	2.006602	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	35	4730	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	1	1	hg19	c.3756C>A	CCDS34222.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	0	1		2	2	2	0		0	0	187		187	187	1	2.060000	-3.547745	1	0.170000	NM_001999			31	31		927	918	0		1	0		0	0	187	0		1	1.144641e-03	0	0	0	2	0	31	927
FBN2	2201	broad.mit.edu	37	5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R|FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R			P35556	FBN2_HUMAN	fibrillin 2	1094	EGF-like 15; 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)			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)		TTGAAGCTTCCGATTGTATTT	0.428																																						ENST00000508053.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				197						c.(3280-3282)Gga>Aga		fibrillin 2							138.0	132.0	134.0					5																	127680140		2203	4300	6503	SO:0001583	missense	2201	1	121412	38				g.chr5:127680140C>T	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.3280G>A	chr5.hg19:g.127680140C>T	ENSP00000424571:p.Gly1094Arg	0					FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R	p.G1094R			1	2	3	2.006602	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	31	4254	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	1	1	hg19	c.3280G>A	CCDS34222.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895790	0.52121	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.54	3.68	0.42216	4.54	3.68	0.42216	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000008	D	0.99704	0.9887	H	0.98178	4.165	0.80722	D	1	D;D	0.61697	0.968;0.99	P;P	0.58820	0.846;0.821	D	0.97397	0.9993	10	0.87932	D	0	.	13.6728	0.62436	0.0:0.924:0.0:0.076	.	1061;1094	D6RJI3;P35556	.;FBN2_HUMAN	R	1094;1094;1061	ENSP00000262464:G1094R;ENSP00000424571:G1094R;ENSP00000425596:G1061R	ENSP00000262464:G1094R	G	-	1	0	0	FBN2	127708039	127708039	1.000000	0.71417	0.942000	0.38095	0.007000	0.05969	7.607000	0.82883	1.520000	0.48965	-0.266000	0.10368	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-2.487782	0	0.170000	NM_001999			109	107		530	522	1		1	0		0	0	101	0		1	1.393979e-01	0	0	0	4	0	109	530
FBN2	2201	broad.mit.edu	37	5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A			P35556	FBN2_HUMAN	fibrillin 2	700					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)			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)		CGCATGTGAGTATCTAAAGGA	0.468																																						ENST00000508053.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				197						c.(2098-2100)Act>Gct		fibrillin 2							116.0	90.0	99.0					5																	127705025		2203	4300	6503	SO:0001583	missense	2201	0	0					g.chr5:127705025T>C	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.2098A>G	chr5.hg19:g.127705025T>C	ENSP00000424571:p.Thr700Ala	0					FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000511489.1_5'UTR|Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A	p.T700A			1	2	3	2.006602	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	22	3072	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	1	1	hg19	c.2098A>G	CCDS34222.1	1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748941	0.69533	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92647	-3.08;-3.08;-2.72	4.35	4.35	0.52113	4.35	4.35	0.52113	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.94159	0.8126	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.984	D;D	0.70487	0.969;0.956	D	0.93537	0.6874	10	0.40728	T	0.16	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	667;700	D6RJI3;P35556	.;FBN2_HUMAN	A	700;700;667	ENSP00000262464:T700A;ENSP00000424571:T700A;ENSP00000425596:T667A	ENSP00000262464:T700A	T	-	1	0	0	FBN2	127732924	127732924	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.825000	0.86693	2.186000	0.69663	0.533000	0.62120	ACT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	0		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_001999			38	36		150	142	1		1	0		0	0	34	0		1	2.744731e-01	0	0	0	5	0	38	150
TERT	7015	broad.mit.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.E555Q(2)	kidney(2)	41						c.(1663-1665)Gag>Aag		telomerase reverse transcriptase	Zidovudine(DB00495)						132.0	121.0	125.0					5																	1282650		2203	4300	6503	SO:0001583	missense	7015	0	0		TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	g.chr5:1282650C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>A	chr5.hg19:g.1282650C>T	ENSP00000309572:p.Glu555Lys	0					TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K	p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	0	0	0	1.967783	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	3	1720	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	1	1	hg19	c.1663G>A	CCDS3861.2	1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342421	0.24339	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.64	3.74	0.42951	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.82167	0.4978	L	0.55834	1.745	0.30140	N	0.804002	P;P;P	0.51351	0.931;0.923;0.944	B;B;P	0.46208	0.374;0.379;0.507	T	0.76405	-0.2971	10	0.11794	T	0.64	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	555	ENSP00000309572:E555K;ENSP00000296820:E555K;ENSP00000334346:E555K;ENSP00000426042:E555K	ENSP00000296820:E555K	E	-	1	0	0	TERT	1335650	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.224926	1	0.170000				66	64		365	361	1		1		1	0	0	80	1221		1	0	1	0	213	0	1109	66	365
FBN2	2201	broad.mit.edu	37	5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000508989.1_Missense_Mutation_p.I111T|FBN2_ENST00000262464.4_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2	111	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		CTCACGGACAATGCACTGGTT	0.612																																						ENST00000508053.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				197						c.(331-333)aTt>aCt		fibrillin 2							79.0	65.0	70.0					5																	127872100		2203	4300	6503	SO:0001583	missense	2201	0	0					g.chr5:127872100A>G	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.332T>C	chr5.hg19:g.127872100A>G	ENSP00000424571:p.Ile111Thr	0					FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T	p.I111T			1	2	3	2.006602	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	8	1306	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	1	1	hg19	c.332T>C	CCDS34222.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067395	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.82;-1.82;-2.16;-0.15	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.151063	0.44483	D	0.000451	D	0.90903	0.7141	M	0.65975	2.015	0.54753	D	0.999988	P;D;P;P	0.56521	0.867;0.976;0.651;0.651	B;P;B;B	0.57101	0.382;0.813;0.212;0.165	D	0.91538	0.5247	10	0.59425	D	0.04	.	15.4316	0.75105	1.0:0.0:0.0:0.0	.	111;111;111;111	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	111	ENSP00000262464:I111T;ENSP00000424571:I111T;ENSP00000425596:I111T;ENSP00000424753:I111T	ENSP00000262464:I111T	I	-	2	0	0	FBN2	127899999	127899999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.827000	0.92041	2.371000	0.80710	0.533000	0.62120	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1		2	2	2	0		0	0	30		30	28	1	2.060000	-20.000000	1	0.170000	NM_001999			37	37		117	116	1		1	0		0	0	30	0		1	0	0	0	0	1	0	37	117
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					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)			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)		AGCCGGACTTCGTTCACGTGT	0.567																																						ENST00000262462.4	1.000000	0.650000	1	8.400000e-01	0.990000	0.944005	0.990000	1.000000																										0				44						c.(352-354)ttC>ttT		solute carrier family 27 (fatty acid transporter), member 6							82.0	62.0	69.0					5																	128302184		2203	4300	6503	SO:0001819	synonymous_variant	28965	0	0					g.chr5:128302184C>T	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.354C>T	chr5.hg19:g.128302184C>T		0					SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F	p.F118F			1	2	3	2.006602	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	1	1364	+		all_cancers(142;0.0483)|Prostate(80;0.055)	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	1	1	hg19	c.354C>T	CCDS4145.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.999970	1	0.170000	NM_014031			18	17		186	183	0		1			0	0	37	0		9.999830e-01	0	0	0	0	0	0	18	186
SLC27A6	28965	broad.mit.edu	37	5	128326153	128326153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128326153C>A	ENST00000262462.4	+	4	1975	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	322					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)			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)		TGCAAACAATCTAAGGTAGGC	0.323																																						ENST00000262462.4	1.000000	0.340000	9.100000e-01	4.700000e-01	0.650000	0.677174	0.650000	1.000000																										0				44						c.(964-966)tCt>tAt		solute carrier family 27 (fatty acid transporter), member 6							79.0	75.0	77.0					5																	128326153		2202	4299	6501	SO:0001583	missense	28965	0	0					g.chr5:128326153C>A	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.965C>A	chr5.hg19:g.128326153C>A	ENSP00000262462:p.Ser322Tyr	0					SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y	p.S322Y			1	2	3	2.006602	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	1975	+		all_cancers(142;0.0483)|Prostate(80;0.055)	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	0	1	hg19	c.965C>A	CCDS4145.1	0	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984311	0.74474	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.59	4.59	0.56863	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.155327	0.64402	D	0.000016	T	0.42877	0.1222	L	0.29908	0.895	0.40018	D	0.975374	P	0.35226	0.491	P	0.45558	0.485	T	0.19484	-1.0304	9	.	.	.	-4.9328	18.732	0.91738	0.0:1.0:0.0:0.0	.	322	Q9Y2P4	S27A6_HUMAN	Y	141;322;322;322	ENSP00000421759:S141Y;ENSP00000262462:S322Y;ENSP00000378684:S322Y;ENSP00000421024:S322Y	.	S	+	2	0	0	SLC27A6	128354052	128354052	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.230000	0.78097	2.835000	0.97688	0.650000	0.86243	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	0	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-13.947010	1	0.170000	NM_014031			11	10		199	193	0		1			0	0	40	0		9.981479e-01	0	0	0	0	0	0	11	199
ADAMTS19	171019	broad.mit.edu	37	5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	919	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423																																						ENST00000274487.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(2755-2757)tgG>tgA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							90.0	87.0	88.0					5																	129019923		2203	4300	6503	SO:0001587	stop_gained	171019	0	0					g.chr5:129019923G>A	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.2757G>A	chr5.hg19:g.129019923G>A	ENSP00000274487:p.Trp919*	0					CTC-575N7.1_ENST00000503616.1_RNA	p.W919*	NM_133638.3	NP_598377.3	1	2	3	2.006602	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	18	2902	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)		Nonsense_Mutation	SNP	ENST00000274487.4	0	1	hg19	c.2757G>A	CCDS4146.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.818119	0.98966	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	0	ADAMTS19	129047822	129047822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.821000	0.97095	0.650000	0.86243	TGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_133638			77	77		335	331	1		1			0	0	59	0		1	0	0	0	0	0	0	77	335
ADAMTS19	171019	broad.mit.edu	37	5	129030537	129030537	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	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	975	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373																																						ENST00000274487.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				91						c.(2923-2925)ccA>ccC		ADAM metallopeptidase with thrombospondin type 1 motif, 19							163.0	151.0	155.0					5																	129030537		2203	4300	6503	SO:0001819	synonymous_variant	171019	0	0					g.chr5:129030537A>C	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.2925A>C	chr5.hg19:g.129030537A>C		0					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.P975P	NM_133638.3	NP_598377.3	1	2	3	2.006602	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	19	3070	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)		Silent	SNP	ENST00000274487.4	1	1	hg19	c.2925A>C	CCDS4146.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	0	1		14	2	2	1		1	1	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_133638			105	104		403	398	1		1			1	0	137	0		1	0	0	0	0	0	0	105	403
CHSY3	337876	broad.mit.edu	37	5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA|CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	360					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428																																						ENST00000305031.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1078-1080)tCt>tAt		chondroitin sulfate synthase 3							151.0	134.0	140.0					5																	129244046		2203	4300	6503	SO:0001583	missense	337876	0	0					g.chr5:129244046C>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1079C>A	chr5.hg19:g.129244046C>A	ENSP00000302629:p.Ser360Tyr	0					CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	p.S360Y	NM_175856.4	NP_787052.3	1	2	3	2.006602	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	2	1437	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	1	1	hg19	c.1079C>A	CCDS34223.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399658	0.83120	.	.	ENSG00000198108	ENST00000305031	D	0.85013	-1.93	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.205916	0.24662	N	0.036634	D	0.89511	0.6736	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	D	0.89718	0.3917	9	.	.	.	0.0434	17.8917	0.88874	0.0:1.0:0.0:0.0	.	360	Q70JA7	CHSS3_HUMAN	Y	360	ENSP00000302629:S360Y	.	S	+	2	0	0	CHSY3	129271945	129271945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.645000	0.89757	0.591000	0.81541	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	1	0	1		2	2	2	0		0	0	45		45	42	1	2.060000	-20.000000	1	0.170000	NM_175856			47	45		188	185	1		1	0		0	0	45	0		1	9.127796e-01	0	0	0	19	0	47	188
CHSY3	337876	broad.mit.edu	37	5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	742					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398																																						ENST00000305031.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2224-2226)tAc>tGc		chondroitin sulfate synthase 3							117.0	110.0	113.0					5																	129521060		2203	4300	6503	SO:0001583	missense	337876	0	0					g.chr5:129521060A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2225A>G	chr5.hg19:g.129521060A>G	ENSP00000302629:p.Tyr742Cys	0						p.Y742C	NM_175856.4	NP_787052.3	1	2	3	2.006602	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	3	2583	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	1	1	hg19	c.2225A>G	CCDS34223.1	1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932410	0.52866	.	.	ENSG00000198108	ENST00000305031	T	0.26957	1.7	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.56601	0.1996	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65565	-0.6137	9	.	.	.	-3.2014	14.5729	0.68224	1.0:0.0:0.0:0.0	.	742	Q70JA7	CHSS3_HUMAN	C	742	ENSP00000302629:Y742C	.	Y	+	2	0	0	CHSY3	129548959	129548959	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.087000	0.94110	2.171000	0.68590	0.528000	0.53228	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_175856			110	107		445	439	1		1	0		0	0	116	0		1	8.266719e-01	0	0	0	15	0	110	445
CDC42SE2	56990	broad.mit.edu	37	5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000505065.1	+	4	585	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W|CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	22	Poly-Arg.				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)			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)			GAAAAGGCGACGGCGGATTGA	0.373																																						ENST00000505065.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(64-66)Cgg>Tgg		CDC42 small effector 2							99.0	95.0	96.0					5																	130721245		2203	4300	6503	SO:0001583	missense	56990	0	0					g.chr5:130721245C>T	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.64C>T	chr5.hg19:g.130721245C>T	ENSP00000427421:p.Arg22Trp	0					CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W|CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W	p.R22W			1	2	3	2.006602	Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	585	+		all_cancers(142;0.0525)|Breast(839;0.198)	B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	1	1	hg19	c.64C>T	CCDS34224.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063430	0.55432	.	.	ENSG00000158985	ENST00000395246;ENST00000360515;ENST00000505065	.	.	.	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000011	T	0.62319	0.2418	.	.	.	0.48632	D	0.999688	D	0.64830	0.994	P	0.52066	0.689	T	0.65129	-0.6243	8	0.66056	D	0.02	-46.6221	10.266	0.43455	0.1969:0.8031:0.0:0.0	.	22	Q9NRR3	C42S2_HUMAN	W	22	.	ENSP00000353706:R22W	R	+	1	2	2	CDC42SE2	130749144	130749144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.663000	0.46774	2.797000	0.96272	0.563000	0.77884	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-2.747294	1	0.170000	NM_020240			72	70		321	318	1		1	1		0	0	80	0		1	1	0	77	0	187	0	72	321
CDC42SE2	56990	broad.mit.edu	37	5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A	rs377082180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000505065.1	+	5	735	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T|CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	72					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)			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)			TGGAATGCCTGCCAATGTCCA	0.498																																						ENST00000505065.1	1.000000	0.340000	7.100000e-01	4.300000e-01	0.550000	0.584846	0.550000	0.520000																										0				3						c.(214-216)Gcc>Acc		CDC42 small effector 2							126.0	116.0	119.0					5																	130726743		2203	4300	6503	SO:0001583	missense	56990	0	0					g.chr5:130726743G>A	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.214G>A	chr5.hg19:g.130726743G>A	ENSP00000427421:p.Ala72Thr	0					CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T|CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T	p.A72T			1	2	3	2.006602	Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	5	735	+		all_cancers(142;0.0525)|Breast(839;0.198)	B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	1	1	hg19	c.214G>A	CCDS34224.1	0	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271740	0.40194	.	.	ENSG00000158985	ENST00000395246;ENST00000503291;ENST00000360515;ENST00000505065	.	.	.	5.32	3.43	0.39272	5.32	3.43	0.39272	.	0.147481	0.46758	N	0.000267	T	0.34483	0.0899	.	.	.	0.35614	D	0.808895	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.22706	T	0.39	-11.125	8.3657	0.32385	0.0841:0.0:0.7605:0.1553	.	72	Q9NRR3	C42S2_HUMAN	T	72;45;72;72	.	ENSP00000353706:A72T	A	+	1	0	0	CDC42SE2	130754642	130754642	1.000000	0.71417	0.717000	0.30585	0.628000	0.37860	4.504000	0.60414	1.630000	0.50440	0.655000	0.94253	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.115631	1	0.170000	NM_020240			20	19		424	421	0		1	1		0	0	89	0		9.999951e-01	9.998489e-01	0	15	0	287	0	20	424
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000509018.1	-	26	4228	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	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)			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)		TGCTCACAGACGATGAGACAG	0.423																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(4021-4023)tcG>tcA		Rap guanine nucleotide exchange factor (GEF) 6							84.0	84.0	84.0					5																	130766994		2203	4300	6503	SO:0001819	synonymous_variant	51735	1	121406	38				g.chr5:130766994C>T	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.4023G>A	chr5.hg19:g.130766994C>T		0					CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	p.S1341S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	1	2	3	2.006602	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	26	4228	-			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	0	1	hg19	c.4023G>A	CCDS34225.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_016340			71	71		303	295	1		1	1		0	0	59	0		1	9.466753e-01	0	3	0	20	0	71	303
RAPGEF6	51735	broad.mit.edu	37	5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000509018.1	-	21	3386	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1061	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)			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)		AACATCATAGCTGGGTCCATG	0.343																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(3181-3183)Gct>Tct		Rap guanine nucleotide exchange factor (GEF) 6							118.0	120.0	119.0					5																	130788766		2203	4300	6503	SO:0001583	missense	51735	0	0					g.chr5:130788766C>A	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.3181G>T	chr5.hg19:g.130788766C>A	ENSP00000421684:p.Ala1061Ser	0					CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S	p.A1061S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	1	2	3	2.006602	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	21	3386	-			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	1	1	hg19	c.3181G>T	CCDS34225.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536943	0.85812	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.29142	1.83;1.69;1.69;1.78;1.58;1.61;1.92	4.94	4.94	0.65067	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35341	1.055	0.80722	D	1	P;B;D;D;D;D;B	0.89917	0.942;0.23;0.966;1.0;1.0;0.999;0.119	P;B;P;D;D;D;B	0.87578	0.816;0.168;0.832;0.997;0.998;0.993;0.168	T	0.35871	-0.9771	10	0.41790	T	0.15	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1061;1061;1061;776;1111;1066;1061	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	1061;1066;1061;1061;1066;776;1061;1111	ENSP00000421684:A1061S;ENSP00000309298:A1066S;ENSP00000426081:A1061S;ENSP00000296859:A1061S;ENSP00000426910:A776S;ENSP00000311419:A1061S;ENSP00000426948:A1111S	ENSP00000426948:A1111S	A	-	1	0	0	RAPGEF6;FNIP1	130816665	130816665	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.814000	0.86154	2.460000	0.83146	0.467000	0.42956	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.327490	1	0.170000	NM_016340			65	65		343	336	1		1	0		0	0	81	0		1	6.795312e-01	0	0	0	14	0	65	343
RAPGEF6	51735	broad.mit.edu	37	5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000509018.1	-	11	1365	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	387					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)			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)		AACTTTATGGGTATTTTTTTC	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1159-1161)aCc>aTc		Rap guanine nucleotide exchange factor (GEF) 6							155.0	143.0	147.0					5																	130840413		2203	4300	6503	SO:0001583	missense	51735	0	0					g.chr5:130840413G>A	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.1160C>T	chr5.hg19:g.130840413G>A	ENSP00000421684:p.Thr387Ile	0					CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I	p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	1	2	3	2.006602	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	11	1365	-			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	0	1	hg19	c.1160C>T	CCDS34225.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381312	0.42207	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.0	5.0	0.66597	5.0	5.0	0.66597	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;P;B	0.36378	0.415;0.059;0.194;0.123;0.435;0.55;0.063	B;B;B;B;B;B;B	0.41988	0.081;0.031;0.143;0.1;0.157;0.372;0.1	T	0.03981	-1.0987	10	0.28530	T	0.3	.	18.2856	0.90113	0.0:0.0:1.0:0.0	.	387;387;387;102;437;387;387	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	I	387;387;387;387;387;102;387;387;437	ENSP00000421684:T387I;ENSP00000309298:T387I;ENSP00000426081:T387I;ENSP00000296859:T387I;ENSP00000426910:T102I;ENSP00000311419:T387I;ENSP00000425389:T387I;ENSP00000426948:T437I	ENSP00000426948:T437I	T	-	2	0	0	RAPGEF6;FNIP1	130868312	130868312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.785000	0.68998	2.324000	0.78689	0.313000	0.20887	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1		18	2	2	0		0	1	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_016340			92	90		304	301	1		1	0		0	0	73	0		1	8.395809e-01	0	1	0	12	0	92	304
RAPGEF6	51735	broad.mit.edu	37	5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000509018.1	-	4	447	c.242C>T	c.(241-243)tCt>tTt	p.S81F	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	81					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)			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)		CACAAGCACAGATCCAGAAAG	0.353																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998307	0.990000	1.000000																										0				31						c.(241-243)tCt>tTt		Rap guanine nucleotide exchange factor (GEF) 6							108.0	90.0	96.0					5																	130928115		2203	4300	6503	SO:0001583	missense	51735	0	0					g.chr5:130928115G>A	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.242C>T	chr5.hg19:g.130928115G>A	ENSP00000421684:p.Ser81Phe	0					CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR	p.S81F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	1	2	3	2.006602	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	447	-			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	1	1	hg19	c.242C>T	CCDS34225.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163123	0.78226	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.73	4.73	0.59995	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000011	T	0.50973	0.1647	M	0.83384	2.64	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	0.998;0.998;0.999;0.998;0.999;0.972	T	0.59172	-0.7504	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.0:1.0:0.0	.	81;81;81;131;81;81	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	81;81;81;81;81;81;81;131	ENSP00000421684:S81F;ENSP00000309298:S81F;ENSP00000426081:S81F;ENSP00000296859:S81F;ENSP00000311419:S81F;ENSP00000425389:S81F;ENSP00000426948:S131F	ENSP00000426948:S131F	S	-	2	0	0	RAPGEF6;FNIP1	130956014	130956014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.317000	0.78254	0.563000	0.77884	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_016340			26	26		183	180	1		1	0		0	0	40	0		9.999999e-01	5.439794e-01	0	0	0	14	0	26	183
FNIP1	96459	broad.mit.edu	37	5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000510461.1	-	3	366	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307954.8_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	91					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)			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)		CCTCCAGGTTTCAGTTGGCAG	0.373																																						ENST00000510461.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(271-273)Aaa>Gaa		folliculin interacting protein 1							94.0	92.0	93.0					5																	131066680		2203	4300	6503	SO:0001583	missense	96459	0	0					g.chr5:131066680T>C	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.271A>G	chr5.hg19:g.131066680T>C	ENSP00000421985:p.Lys91Glu	0					CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E|FNIP1_ENST00000307954.8_Intron	p.K91E	NM_133372.2	NP_588613	1	2	3	2.006602	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	3	366	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	1	1	hg19	c.271A>G	CCDS34227.1	1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877420	0.51801	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	5.27	5.27	0.74061	.	.	.	.	.	T	0.31295	0.0792	L	0.29908	0.895	0.42460	D	0.992788	B;P;B	0.41848	0.25;0.763;0.336	B;B;B	0.36464	0.117;0.225;0.138	T	0.09207	-1.0685	9	0.30854	T	0.27	-6.0328	15.4806	0.75524	0.0:0.0:0.0:1.0	.	91;91;91	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	E	91	ENSP00000309266:K91E;ENSP00000421985:K91E;ENSP00000425619:K91E	ENSP00000309266:K91E	K	-	1	0	0	FNIP1	131094579	131094579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_133372			68	66		299	292	1		1	1		0	0	63	0		1	9.994084e-01	0	11	0	40	0	68	299
FNIP1	96459	broad.mit.edu	37	5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000510461.1	-	2	299	c.204G>T	c.(202-204)gaG>gaT	p.E68D	FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	68					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)			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)		CTGATATGTCCTCATTTCTTC	0.363																																						ENST00000510461.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(202-204)gaG>gaT		folliculin interacting protein 1							158.0	144.0	149.0					5																	131080272		2203	4300	6503	SO:0001583	missense	96459	0	0					g.chr5:131080272C>A	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.204G>T	chr5.hg19:g.131080272C>A	ENSP00000421985:p.Glu68Asp	0					CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D	p.E68D	NM_133372.2	NP_588613	1	2	3	2.006602	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	2	299	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	1	0	hg19	c.204G>T	CCDS34227.1	1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062649	0.36373	.	.	ENSG00000217128	ENST00000514667;ENST00000307968;ENST00000307954;ENST00000510461;ENST00000511848	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.88	1.64	0.23874	5.88	1.64	0.23874	.	.	.	.	.	T	0.16300	0.0392	N	0.03948	-0.315	0.43819	D	0.99638	B;B;B;B;B	0.30563	0.096;0.011;0.037;0.285;0.0	B;B;B;B;B	0.28553	0.038;0.016;0.024;0.091;0.0	T	0.05683	-1.0870	9	0.21540	T	0.41	-8.4916	6.2545	0.20865	0.1222:0.5277:0.0:0.3501	.	68;68;68;68;68	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40;E9PCH4	.;.;.;FNIP1_HUMAN;.	D	68	ENSP00000426948:E68D;ENSP00000309266:E68D;ENSP00000310453:E68D;ENSP00000421985:E68D;ENSP00000425619:E68D	ENSP00000310453:E68D	E	-	3	2	2	FNIP1	131108171	131108171	0.571000	0.26659	1.000000	0.80357	0.986000	0.74619	-0.326000	0.07965	0.396000	0.25283	0.655000	0.94253	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.054429	1	0.170000	NM_133372			74	74		355	345	1		1	1		0	0	68	0		1	9.633837e-01	0	8	0	20	0	74	355
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379240.1	-	15	1573	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N			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																																						ENST00000379240.1	1.000000	0.220000	4.700000e-01	2.800000e-01	0.360000	0.411768	0.360000	0.350000																										2	Substitution - Missense(2)	p.D499Y(2)	large_intestine(2)	35						c.(1420-1422)Gac>Aac		acyl-CoA synthetase long-chain family member 6							171.0	150.0	157.0					5																	131305833		2203	4300	6503	SO:0001583	missense	23305	2	121412	37				g.chr5:131305833C>T	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>A	chr5.hg19:g.131305833C>T	ENSP00000368542:p.Asp474Asn	0					ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N	p.D474N			1	2	3	2.006602	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	15	1573	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	1	1	hg19	c.1420G>A		0	.	.	.	.	.	.	.	.	.	.	C	33	5.275160	0.95459	.	.	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	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D;D;D	0.61080	0.708;0.986;0.989;0.752;0.961;0.961;0.961	B;P;P;P;P;P;P	0.55508	0.401;0.534;0.777;0.537;0.534;0.534;0.534	T	0.71464	-0.4585	10	0.72032	D	0.01	.	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;.;.;.	N	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474N;ENSP00000368566:D499N;ENSP00000368574:D489N;ENSP00000349608:D399N;ENSP00000368557:D399N;ENSP00000296869:D499N;ENSP00000368548:D485N;ENSP00000368546:D474N;ENSP00000445154:D383N;ENSP00000368542:D474N;ENSP00000413329:D454N;ENSP00000442124:D474N	ENSP00000296869:D499N	D	-	1	0	0	ACSL6	131333732	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	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	0	0	1		2	2	2	0		0	0	160		160	156	1	2.060000	-2.825959	1	0.170000	NM_015256			22	22		717	699	0		1	0		0	0	160	0		9.999983e-01	1.001259e-03	0	0	0	2	0	22	717
ACSL6	23305	broad.mit.edu	37	5	131329877	131329877	+	Silent	SNP	C	C	T	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379240.1	-	2	195	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000544770.1_5'UTR			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	14					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)			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)			AGTCACCTAGCTCAGGCAGTC	0.542																																						ENST00000379240.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(40-42)gaG>gaA		acyl-CoA synthetase long-chain family member 6							79.0	64.0	69.0					5																	131329877		2203	4300	6503	SO:0001819	synonymous_variant	23305	5	121412	37				g.chr5:131329877C>T	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.42G>A	chr5.hg19:g.131329877C>T		0					ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000379255.1_Silent_p.E14E	p.E14E			1	2	3	2.006602	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	2	195	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	1	1	hg19	c.42G>A		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_015256			37	37		147	146	1		1	0		0	0	49	0		1	4.260825e-02	0	0	0	2	0	37	147
P4HA2	8974	broad.mit.edu	37	5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	211					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(631-633)Gac>Aac		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						202.0	185.0	191.0					5																	131546055		2203	4300	6503	SO:0001583	missense	8974	0	0					g.chr5:131546055C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.631G>A	chr5.hg19:g.131546055C>T	ENSP00000384999:p.Asp211Asn	0					P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N	p.D211N			1	2	3	2.006602	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	7	1199	-		all_cancers(142;0.103)|Breast(839;0.198)	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	1	1	hg19	c.631G>A	CCDS4151.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.842700	0.97016	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.92	5.92	0.95590	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.77112	-0.2708	10	0.87932	D	0	-0.8403	20.3151	0.98650	0.0:1.0:0.0:0.0	.	211;211	O15460;O15460-2	P4HA2_HUMAN;.	N	211	ENSP00000384999:D211N;ENSP00000368379:D211N;ENSP00000166534:D211N;ENSP00000353772:D211N;ENSP00000368398:D211N;ENSP00000368394:D211N	ENSP00000166534:D211N	D	-	1	0	0	P4HA2	131573954	131573954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.809000	0.96659	0.467000	0.42956	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	1	0	1		2	2	2	0		0	0	175		175	172	1	2.060000	-3.222373	1	0.170000	NM_004199			126	123		674	667	1		1	1		0	0	175	0		1	1	0	147	0	404	0	126	674
SLC22A4	6583	broad.mit.edu	37	5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	329					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAGCTTTCATTCTGGACCTGT	0.398																																						ENST00000200652.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(985-987)atT>atG		solute carrier family 22 (organic cation/zwitterion transporter), member 4	Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)						170.0	165.0	167.0					5																	131667484		2203	4300	6503	SO:0001583	missense	6583	0	0					g.chr5:131667484T>G	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.987T>G	chr5.hg19:g.131667484T>G	ENSP00000200652:p.Ile329Met	0					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.I329M	NM_003059.2	NP_003050.2	1	2	3	2.006602	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	6	1161	+		all_cancers(142;0.0752)|Breast(839;0.198)	O14546	Missense_Mutation	SNP	ENST00000200652.3	1	1	hg19	c.987T>G	CCDS4153.1	1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440925	0.25900	.	.	ENSG00000197208	ENST00000200652	T	0.74947	-0.89	5.86	-0.898	0.10550	5.86	-0.898	0.10550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307285	0.39834	N	0.001253	T	0.72407	0.3456	M	0.71581	2.175	0.36416	D	0.864046	B	0.32467	0.372	B	0.39771	0.309	T	0.70498	-0.4855	10	0.35671	T	0.21	.	11.4059	0.49898	0.0:0.3915:0.0:0.6085	.	329	Q9H015	S22A4_HUMAN	M	329	ENSP00000200652:I329M	ENSP00000200652:I329M	I	+	3	3	3	SLC22A4	131695383	131695383	0.990000	0.36364	0.992000	0.48379	0.179000	0.23085	0.358000	0.20216	-0.096000	0.12329	-0.290000	0.09829	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_003059			116	114		466	463	1		1	1		0	0	123	0		1	9.396721e-01	0	6	0	15	0	116	466
SLC22A5	6584	broad.mit.edu	37	5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	390					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)			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)	TATGTGTTGGCCTGGCTGCTG	0.537																																						ENST00000245407.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1168-1170)gCc>gAc		solute carrier family 22 (organic cation/carnitine transporter), member 5	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)						152.0	125.0	134.0					5																	131726498		2203	4300	6503	SO:0001583	missense	6584	0	0					g.chr5:131726498C>A	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.1169C>A	chr5.hg19:g.131726498C>A	ENSP00000245407:p.Ala390Asp	0					SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	p.A390D	NM_003060.3	NP_003051.1	1	2	3	2.006602	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	7	1390	+		all_cancers(142;0.0751)|Breast(839;0.198)	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	1	1	hg19	c.1169C>A	CCDS4154.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423802	0.83667	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.79554	-1.28;-1.28	6.17	6.17	0.99709	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202170	0.52532	D	0.000065	D	0.89128	0.6627	M	0.90542	3.125	0.49130	D	0.999754	P;P	0.49447	0.924;0.872	P;P	0.49597	0.616;0.616	D	0.89610	0.3841	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;390	A2Q0V1;O76082	.;S22A5_HUMAN	D	390;414	ENSP00000245407:A390D;ENSP00000402760:A414D	ENSP00000245407:A390D	A	+	2	0	0	SLC22A5	131754397	131754397	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_003060			75	75		334	328	1		1	1		0	0	90	0		1	9.831958e-01	0	7	0	24	0	75	334
IRF1	3659	broad.mit.edu	37	5	131820175	131820175	+	Silent	SNP	C	C	T	rs201186445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	244					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22090	0.001		0.0	False		,,,				2504	0.0					ENST00000245414.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(730-732)tcG>tcA		interferon regulatory factor 1							115.0	114.0	114.0					5																	131820175		2203	4300	6503	SO:0001819	synonymous_variant	3659	3	121412	37				g.chr5:131820175C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.732G>A	chr5.hg19:g.131820175C>T		0					IRF1_ENST00000405885.2_Silent_p.S244S|IRF1_ENST00000463784.1_5'Flank	p.S244S	NM_002198.2	NP_002189.1	1	2	3	2.006602	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	9	990	-		all_cancers(142;0.026)|Breast(839;0.198)	Q96GG7	Silent	SNP	ENST00000245414.4	1	1	hg19	c.732G>A	CCDS4155.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	1	0	1		2	2	2	0		0	0	150		150	146	1	2.060000	-2.417146	0	0.170000	NM_002198			95	94		512	504	1		1	1		0	0	150	0		1	1	0	83	0	205	0	95	512
IRF1	3659	broad.mit.edu	37	5	131821409	131821409	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537																																						ENST00000245414.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				11						c.e8-1		interferon regulatory factor 1							254.0	185.0	208.0					5																	131821409		2203	4300	6503	SO:0001630	splice_region_variant	3659	0	0					g.chr5:131821409C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.668-1G>A	chr5.hg19:g.131821409C>T		0					IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_5'Flank		NM_002198.2	NP_002189.1	1	2	3	2.006602	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	8	926	-		all_cancers(142;0.026)|Breast(839;0.198)	Q96GG7	Splice_Site	SNP	ENST00000245414.4	1	1	hg19		CCDS4155.1	1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609289	0.66558	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3525	0.43945	0.0:0.907:0.0:0.093	.	.	.	.	.	-1	.	.	.	-	.	.	.	IRF1	131849308	131849308	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.691000	0.37721	2.826000	0.97356	0.655000	0.94253	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_002198	Intron		52	50		311	307	1		1			0	0	77	0		1	0	0	0	0	0	0	52	311
SEPT8	23176	broad.mit.edu	37	5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000378719.2	-	7	1103	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	289	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587																																						ENST00000378719.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SEPT8/AFF4(2)	0				11						c.(865-867)cGc>cAc		septin 8							66.0	74.0	71.0					5																	132097246		2191	4295	6486	SO:0001583	missense	23176	0	0					g.chr5:132097246C>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.866G>A	chr5.hg19:g.132097246C>T	ENSP00000367991:p.Arg289His	0					SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H	p.R289H	NM_001098811.1	NP_001092281.1	1	2	3	2.006602	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	7	1103	-		all_cancers(142;0.0751)|Breast(839;0.198)	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	1	1	hg19	c.866G>A	CCDS43358.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514590	0.85389	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.28	3.49	0.39957	5.28	3.49	0.39957	.	0.053680	0.64402	D	0.000001	D	0.91942	0.7448	M	0.92268	3.29	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.91599	0.5293	10	0.87932	D	0	.	9.9392	0.41570	0.1392:0.7891:0.0:0.0717	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	289;287;289;229;289;229;287;289	ENSP00000367991:R289H;ENSP00000367993:R287H;ENSP00000296873:R289H;ENSP00000399840:R229H;ENSP00000367978:R289H;ENSP00000367971:R229H;ENSP00000367973:R287H;ENSP00000394766:R289H	ENSP00000296873:R289H	R	-	2	0	0	SEPT8	132125145	132125145	1.000000	0.71417	0.546000	0.28166	0.863000	0.49368	6.089000	0.71384	0.606000	0.29965	0.561000	0.74099	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	XM_034872			69	67		291	289	1		1	1		0	0	64	0		1	1	0	48	0	282	0	69	291
SHROOM1	134549	broad.mit.edu	37	5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	374					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)			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)			ATGCAGGTCTCTGAGACCCTC	0.582																																						ENST00000378679.3	1.000000	0.300000	6.400000e-01	3.800000e-01	0.490000	0.530993	0.490000	0.480000																										0				17						c.(1120-1122)Gag>Tag		shroom family member 1							74.0	80.0	78.0					5																	132160428		2203	4300	6503	SO:0001587	stop_gained	134549	0	0					g.chr5:132160428C>A	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.1120G>T	chr5.hg19:g.132160428C>A	ENSP00000367950:p.Glu374*	0					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank	p.E374*	NM_001172700.1	NP_001166171.1	1	2	3	2.006602	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	6	1924	-			B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	0	1	hg19	c.1120G>T	CCDS54902.1	0	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010848	0.93346	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	.	.	.	3.49	2.58	0.30949	3.49	2.58	0.30949	.	1.873330	0.02512	N	0.091585	.	.	.	.	.	.	0.29218	N	0.874146	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.639	6.0514	0.19787	0.0:0.8501:0.0:0.1499	.	.	.	.	X	374	.	ENSP00000324245:E374X	E	-	1	0	0	SHROOM1	132188327	132188327	0.001000	0.12720	0.297000	0.24988	0.651000	0.38670	0.293000	0.19029	0.986000	0.38683	0.561000	0.74099	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-3.353752	1	0.170000	NM_133456			20	19		477	468	0		1	0		0	0	94	0		9.999944e-01	2.981826e-01	0	1	0	25	0	20	477
SHROOM1	134549	broad.mit.edu	37	5	132160764	132160764	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000378676.1_Splice_Site_p.A327V|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Splice_Site_p.A327V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	327					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)			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)			TTGGGGAACAGCCTGGAAGGG	0.532																																						ENST00000378679.3	1.000000	0.200000	5.200000e-01	2.800000e-01	0.370000	0.425101	0.370000	0.360000																										0				17						c.(979-981)gCt>gTt		shroom family member 1							132.0	140.0	137.0					5																	132160764		2203	4300	6503	SO:0001630	splice_region_variant	134549	0	0					g.chr5:132160764G>A	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.979-1C>T	chr5.hg19:g.132160764G>A		0					SHROOM1_ENST00000319854.3_Splice_Site_p.A327V|SHROOM1_ENST00000378676.1_Splice_Site_p.A327V|SHROOM1_ENST00000488072.1_5'Flank	p.A327V	NM_001172700.1	NP_001166171.1	1	2	3	2.006602	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	5	1784	-			B7WP40|B7ZL01|Q8TDP0|Q8TF41	Splice_Site	SNP	ENST00000378679.3	0	1	hg19	c.980C>T	CCDS54902.1	0	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672525	0.29693	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27890	1.64;1.64;1.64	4.64	1.7	0.24286	4.64	1.7	0.24286	.	1.006700	0.07999	N	0.988432	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.27262	0.078;0.036	T	0.31251	-0.9950	10	0.30854	T	0.27	-2.3592	4.3089	0.10960	0.2093:0.1905:0.6002:0.0	.	327;327	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	327	ENSP00000367950:A327V;ENSP00000324245:A327V;ENSP00000367947:A327V	ENSP00000324245:A327V	A	-	2	0	0	SHROOM1	132188663	132188663	0.463000	0.25799	0.782000	0.31804	0.183000	0.23260	0.542000	0.23222	0.562000	0.29204	0.561000	0.74099	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.520350	1	0.170000	NM_133456	Missense_Mutation		13	12		417	409	0		1	0		0	0	87	0		9.994807e-01	5.401805e-01	0	0	0	57	0	13	417
SHROOM1	134549	broad.mit.edu	37	5	132160909	132160909	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000378676.1_Silent_p.S308S|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					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)			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)			AGACTTCGCCTGAAGCGCTCC	0.617																																						ENST00000378679.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(922-924)tcA>tcG		shroom family member 1							39.0	44.0	42.0					5																	132160909		2203	4300	6503	SO:0001819	synonymous_variant	134549	0	0					g.chr5:132160909T>C	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.924A>G	chr5.hg19:g.132160909T>C		0					SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S|SHROOM1_ENST00000488072.1_5'Flank	p.S308S	NM_001172700.1	NP_001166171.1	1	2	3	2.006602	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	1728	-			B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	1	1	hg19	c.924A>G	CCDS54902.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_133456			37	36		153	148	1		1	1		0	0	37	0		1	9.986004e-01	0	16	0	29	0	37	153
GDF9	2661	broad.mit.edu	37	5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C	rs182590484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C			O60383	GDF9_HUMAN	growth differentiation factor 9	342					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483																																						ENST00000378673.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1024-1026)tAc>tGc		growth differentiation factor 9							67.0	70.0	69.0					5																	132197621		2203	4300	6503	SO:0001583	missense	2661	0	0					g.chr5:132197621T>C		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1025A>G	chr5.hg19:g.132197621T>C	ENSP00000367942:p.Tyr342Cys	0					GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C|GDF9_ENST00000464378.1_5'Flank	p.Y342C			1	2	3	2.006602	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	3	1891	-		all_cancers(142;0.105)|Breast(839;0.198)	Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	1	1	hg19	c.1025A>G	CCDS4162.1	1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319266	0.60524	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	6.13	0.99165	6.13	6.13	0.99165	Transforming growth factor-beta, C-terminal (1);	0.122391	0.56097	D	0.000021	D	0.90672	0.7074	M	0.86178	2.8	0.51012	D	0.999901	D	0.89917	1.0	D	0.77557	0.99	D	0.91699	0.5372	10	0.66056	D	0.02	.	16.4513	0.83991	0.0:0.0:0.0:1.0	.	342	O60383	GDF9_HUMAN	C	342	ENSP00000367942:Y342C;ENSP00000296875:Y342C	ENSP00000296875:Y342C	Y	-	2	0	0	GDF9	132225520	132225520	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.434000	0.66526	2.364000	0.80123	0.524000	0.50904	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_005260			70	70		324	321	1		1	0		0	0	92	0		1	3.251660e-02	0	0	0	2	0	70	324
ZCCHC10	54819	broad.mit.edu	37	5	132334384	132334384	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132334384G>T	ENST00000509437.1	-	5	477	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.S135Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	157	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ggaggaggaagaggttgtgga	0.488																																						ENST00000509437.1	1.000000	0.230000	6.400000e-01	3.300000e-01	0.450000	0.502703	0.450000	0.440000																										0				1						c.(469-471)tCt>tAt		zinc finger, CCHC domain containing 10							96.0	100.0	99.0					5																	132334384		2203	4299	6502	SO:0001583	missense	54819	0	0					g.chr5:132334384G>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.470C>A	chr5.hg19:g.132334384G>T	ENSP00000423276:p.Ser157Tyr	0					ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.S135Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR	p.S157Y			1	2	3	2.006602	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	5	477	-			Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	1	1	hg19	c.470C>A		0	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511396	0.27036	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848	.	.	.	4.82	2.98	0.34508	4.82	2.98	0.34508	.	0.521196	0.19466	N	0.113573	T	0.63510	0.2517	.	.	.	0.80722	D	1	P;P;P	0.47191	0.729;0.826;0.891	B;B;P	0.47705	0.431;0.365;0.555	T	0.68002	-0.5524	8	0.87932	D	0	.	14.731	0.69383	0.0:0.276:0.724:0.0	.	121;157;135	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	Y	135;151;157;121	.	ENSP00000324274:S135Y	S	-	2	0	0	ZCCHC10	132362283	132362283	1.000000	0.71417	0.435000	0.26784	0.442000	0.32017	6.371000	0.73119	0.534000	0.28695	-0.300000	0.09419	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-12.275550	1	0.170000	NM_017665			11	10		289	283	0		1	1		0	0	56	0		9.981923e-01	9.057496e-01	0	9	0	102	0	11	289
VDAC1	7416	broad.mit.edu	37	5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	72					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(214-216)Aca>Gca		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						212.0	191.0	198.0					5																	133326749		2203	4300	6503	SO:0001583	missense	7416	1	121412	34				g.chr5:133326749T>C		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.214A>G	chr5.hg19:g.133326749T>C	ENSP00000265333:p.Thr72Ala	0					VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A	p.T72A	NM_003374.2	NP_003365.1	1	2	3	2.006602	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)	4	458	-			B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	1	1	hg19	c.214A>G	CCDS4168.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303855	0.81136	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.044704	0.85682	D	0.000000	T	0.65133	0.2662	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.37015	0.239	T	0.67760	-0.5587	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	72	P21796	VDAC1_HUMAN	A	72	ENSP00000265333:T72A;ENSP00000378484:T72A;ENSP00000378487:T72A;ENSP00000390129:T72A	ENSP00000265333:T72A	T	-	1	0	0	VDAC1	133354648	133354648	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.970000	0.88000	2.254000	0.74563	0.533000	0.62120	ACA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000				176	171		714	699	1		1	1		0	0	133	0		1	1	0	532	0	966	0	176	714
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000321584.4	+	4	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K			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																																						ENST00000321584.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.E164K(2)	large_intestine(2)	12						c.(490-492)Gaa>Aaa		transcription factor 7 (T-cell specific, HMG-box)							128.0	119.0	122.0					5																	133473798		2203	4300	6503	SO:0001583	missense	6932	1	121412	30				g.chr5:133473798G>A	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	chr5.hg19:g.133473798G>A	ENSP00000326540:p.Glu164Lys	0					TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K	p.E164K			1	2	3	2.006602	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	686	+		Breast(839;0.058)	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	1	1	hg19	c.490G>A		1	.	.	.	.	.	.	.	.	.	.	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	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	0	TCF7	133501697	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	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TCF7-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.326472	1	0.170000	NM_201634			85	85		436	429	1		1	1		0	0	114	0		1	9.650846e-01	0	12	0	18	0	85	436
SKP1	6500	broad.mit.edu	37	5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443																																						ENST00000353411.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(211-213)cCt>cTt		S-phase kinase-associated protein 1							98.0	85.0	90.0					5																	133496781		2203	4300	6503	SO:0001583	missense	6500	0	0					g.chr5:133496781G>A	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.212C>T	chr5.hg19:g.133496781G>A	ENSP00000231487:p.Pro71Leu	0					SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L	p.P71L	NM_170679.2	NP_733779.1	1	2	3	2.006602	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	395	-			D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	1	1	hg19	c.212C>T	CCDS4171.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297649	0.60086	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47177	0.88;0.87;0.87;0.88;0.88;0.87;0.88;0.85	4.97	4.97	0.65823	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.50735	0.1633	M	0.67569	2.06	0.80722	D	1	B;B;B	0.22414	0.009;0.069;0.008	B;B;B	0.22386	0.013;0.039;0.008	T	0.52109	-0.8619	10	0.52906	T	0.07	-1.6096	18.6017	0.91249	0.0:0.0:1.0:0.0	.	71;71;71	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	L	71	ENSP00000231487:P71L;ENSP00000429472:P71L;ENSP00000431067:P71L;ENSP00000429961:P71L;ENSP00000429686:P71L;ENSP00000331708:P71L;ENSP00000429415:P71L;ENSP00000429996:P71L	ENSP00000331708:P71L	P	-	2	0	0	SKP1	133524680	133524680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.130000	0.94437	2.444000	0.82710	0.655000	0.94253	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.538218	1	0.170000	NM_170679			34	33		145	144	1		1	1		0	0	58	0		1	1	0	486	0	1689	0	34	145
CDKL3	51265	broad.mit.edu	37	5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000265334.4	-	8	1020	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000521118.1_Missense_Mutation_p.A301V	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	301					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)			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)			CAGTAATTTAGCTTTCAGTTC	0.308																																						ENST00000265334.4	1.000000	0.650000	1	9.000000e-01	0.990000	0.959040	0.990000	1.000000																										0				11						c.(901-903)gCt>gTt		cyclin-dependent kinase-like 3							39.0	37.0	37.0					5																	133644398		1824	4076	5900	SO:0001583	missense	51265	0	0					g.chr5:133644398G>A	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.902C>T	chr5.hg19:g.133644398G>A	ENSP00000265334:p.Ala301Val	0					CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521118.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CTD-2410N18.4_ENST00000518409.1_RNA	p.A301V	NM_001113575.1	NP_001107047.1	1	2	3	2.006602	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	8	1020	-			D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	0	1	hg19	c.902C>T	CCDS47264.1	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002233	0.54254	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74315	0.24;0.19;-0.78;-0.61;-0.83;-0.79;-0.79	5.66	5.66	0.87406	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.78329	0.4266	L	0.32530	0.975	0.29057	N	0.884161	D;D;D;D;P	0.89917	0.986;1.0;0.999;0.978;0.877	P;D;D;P;B	0.72338	0.797;0.977;0.974;0.651;0.395	T	0.72795	-0.4185	10	0.38643	T	0.18	-23.5142	12.9356	0.58311	0.0:0.1628:0.8372:0.0	.	112;6;6;112;301	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	V	6;6;301;112;301;301;301	ENSP00000441545:A6V;ENSP00000399807:A6V;ENSP00000265334:A301V;ENSP00000428500:A112V;ENSP00000428689:A301V;ENSP00000430496:A301V;ENSP00000395559:A301V	ENSP00000265334:A301V	A	-	2	0	0	CDKL3	133672297	133672297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.454000	0.52986	2.676000	0.91093	0.555000	0.69702	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-17.161690	1	0.170000	NM_001113575			11	11		99	97	1		1	0		0	0	18	0		9.984684e-01	2.920678e-01	0	1	0	9	0	11	99
JADE2	23338	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K																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)			CGAGTACGACGAGGATGTTGT	0.592																																						ENST00000402835.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				22						c.(592-594)Gag>Aag									220.0	169.0	186.0					5																	133896555		2203	4300	6503	SO:0001583	missense	0	1	121412	30				g.chr5:133896555G>A																												ENST00000402835.1:c.592G>A	chr5.hg19:g.133896555G>A	ENSP00000384671:p.Glu198Lys	0					PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K	p.E198K			1	2	3	2.006602			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	6	847	+				Missense_Mutation	SNP	ENST00000402835.1	1	1	hg19	c.592G>A		1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	0	PHF15	133924454	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.077610	1	0.170000				46	46		277	271	1		1	1		0	0	65	0		1	9.999881e-01	0	11	0	93	0	46	277
SAR1B	51128	broad.mit.edu	37	5	133944084	133944084	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	ENST00000402673.2	-	6	736	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	153					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)|GTP catabolic process (GO:0006184)|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)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACCATATAAACCAAACAT	0.353																																						ENST00000402673.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999783	0.990000	1.000000																										0				5						c.(457-459)tTa>tCa		secretion associated, Ras related GTPase 1B							99.0	84.0	89.0					5																	133944084		2201	4299	6500	SO:0001583	missense	51128	0	0					g.chr5:133944084A>G	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.458T>C	chr5.hg19:g.133944084A>G	ENSP00000385432:p.Leu153Ser	0					SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S	p.L153S	NM_016103.3	NP_057187.1	1	2	3	2.006602	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	6	736	-			D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	0	1	hg19	c.458T>C	CCDS4177.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710077	0.89018	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.071028	0.64402	D	0.000012	D	0.90480	0.7018	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94115	0.7374	10	0.87932	D	0	-9.0065	16.021	0.80493	1.0:0.0:0.0:0.0	.	153	Q9Y6B6	SAR1B_HUMAN	S	85;153;85;85;153;85;85;153	ENSP00000385432:L153S;ENSP00000425339:L85S;ENSP00000426335:L85S;ENSP00000404997:L153S;ENSP00000424673:L85S;ENSP00000423197:L85S;ENSP00000425466:L153S	ENSP00000378443:L85S	L	-	2	0	0	SAR1B	133971983	133971983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.240000	0.73641	0.533000	0.62120	TTA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999990	1	0.170000	NM_016103			12	11		37	32	1		1	1		0	0	13	0		9.989080e-01	1	0	25	0	202	0	12	37
SEC24A	10802	broad.mit.edu	37	5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	150	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|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)			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)			CTCACAAACAAACCATTGTCC	0.408																																						ENST00000398844.2	1.000000	0.360000	7.400000e-01	4.600000e-01	0.580000	0.612060	0.580000	0.560000																										0				36						c.(448-450)Aac>Tac		SEC24 family member A							118.0	117.0	117.0					5																	133997159		1991	4165	6156	SO:0001583	missense	10802	0	0					g.chr5:133997159A>T	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.448A>T	chr5.hg19:g.133997159A>T	ENSP00000381823:p.Asn150Tyr	0					SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	p.N150Y	NM_021982.2	NP_068817.1	1	2	3	2.006602	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	2	736	+			A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	1	1	hg19	c.448A>T	CCDS43363.1	0	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642853	0.47153	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.77	4.61	0.57282	5.77	4.61	0.57282	.	0.312847	0.35615	N	0.003091	D	0.95771	0.8624	L	0.59436	1.845	0.27270	N	0.958396	D	0.56521	0.976	P	0.51016	0.656	D	0.89294	0.3621	10	0.06757	T	0.87	-5.5629	11.8303	0.52290	0.9314:0.0:0.0686:0.0	.	150	O95486	SC24A_HUMAN	Y	150	ENSP00000381823:N150Y;ENSP00000321749:N150Y	ENSP00000321749:N150Y	N	+	1	0	0	SEC24A	134025058	134025058	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.422000	0.59854	1.002000	0.39104	0.533000	0.62120	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-5.074224	1	0.170000				22	22		440	426	0		1	1		0	0	79	0		9.999983e-01	9.630223e-01	0	2	0	109	0	22	440
SEC24A	10802	broad.mit.edu	37	5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	696					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)			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)			GTGGACAGTATTCTGATTTGG	0.348																																						ENST00000398844.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2086-2088)taT>taG		SEC24 family member A							213.0	196.0	202.0					5																	134032917		1863	4094	5957	SO:0001587	stop_gained	10802	0	0					g.chr5:134032917T>G	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.2088T>G	chr5.hg19:g.134032917T>G	ENSP00000381823:p.Tyr696*	0						p.Y696*	NM_021982.2	NP_068817.1	1	2	3	2.006602	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	14	2376	+			A8MVW3|Q8WUV2|Q96GP7	Nonsense_Mutation	SNP	ENST00000398844.2	0	1	hg19	c.2088T>G	CCDS43363.1	1	.	.	.	.	.	.	.	.	.	.	T	41	8.638871	0.98895	.	.	ENSG00000113615	ENST00000398844	.	.	.	5.59	1.89	0.25635	5.59	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1559	8.6221	0.33866	0.0:0.365:0.0:0.635	.	.	.	.	X	696	.	ENSP00000381823:Y696X	Y	+	3	2	2	SEC24A	134060816	134060816	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.795000	0.38784	0.390000	0.25115	0.460000	0.39030	TAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	1		2	2	2	0		0	0	117		117	114	1	2.060000	-20.000000	1	0.170000				128	128		564	556	1		1	1		0	0	117	0		1	9.999996e-01	0	7	0	85	0	128	564
SEC24A	10802	broad.mit.edu	37	5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	RNU6-1164P_ENST00000364428.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	780					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)			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)			CCTAACGTCAACCCAGACGCT	0.408																																						ENST00000398844.2	1.000000	0.730000	1	8.900000e-01	0.990000	0.960772	0.990000	1.000000																										0				36						c.(2338-2340)aAc>aGc		SEC24 family member A							112.0	105.0	107.0					5																	134039521		1866	4100	5966	SO:0001583	missense	10802	1	120820	34				g.chr5:134039521A>G	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.2339A>G	chr5.hg19:g.134039521A>G	ENSP00000381823:p.Asn780Ser	0					RNU6-1164P_ENST00000364428.1_RNA	p.N780S	NM_021982.2	NP_068817.1	1	2	3	2.006602	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	16	2627	+			A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	1	1	hg19	c.2339A>G	CCDS43363.1	1	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532589	0.64972	.	.	ENSG00000113615	ENST00000398844	T	0.21543	2.0	5.59	4.43	0.53597	5.59	4.43	0.53597	Sec23/Sec24 beta-sandwich (1);	0.040458	0.85682	N	0.000000	T	0.28499	0.0705	L	0.33339	1.005	0.80722	D	1	D;D	0.54601	0.967;0.962	P;P	0.56960	0.649;0.81	T	0.01578	-1.1320	10	0.56958	D	0.05	-7.6536	11.6259	0.51145	0.9302:0.0:0.0698:0.0	.	544;780	B4E205;O95486	.;SC24A_HUMAN	S	780	ENSP00000381823:N780S	ENSP00000381823:N780S	N	+	2	0	0	SEC24A	134067420	134067420	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.321000	0.72881	0.957000	0.37930	-0.489000	0.04712	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-9.917658	1	0.170000				28	27		285	283	0		1	1		0	0	72	0		1	9.985446e-01	0	3	0	101	0	28	285
DDX46	9879	broad.mit.edu	37	5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000354283.4	+	21	2969	c.2834C>T	c.(2833-2835)gCt>gTt	p.A945V	DDX46_ENST00000452510.2_Missense_Mutation_p.A946V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	945					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)			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)			TTTTAGACTGCTAGGTGGAAA	0.403																																					Colon(13;391 453 4901 21675 24897)	ENST00000354283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2833-2835)gCt>gTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							77.0	75.0	76.0					5																	134154554		2203	4300	6503	SO:0001583	missense	9879	0	0					g.chr5:134154554C>T		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.2834C>T	chr5.hg19:g.134154554C>T	ENSP00000346236:p.Ala945Val	0					DDX46_ENST00000452510.2_Missense_Mutation_p.A946V	p.A945V			1	2	3	2.006602	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	21	2969	+			O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	1	1	hg19	c.2834C>T	CCDS34240.1	1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858916	0.71834	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.6;1.6	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.537909	0.22272	N	0.062243	T	0.33731	0.0873	L	0.38838	1.175	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.07214	-1.0784	10	0.48119	T	0.1	1.6371	19.8505	0.96738	0.0:1.0:0.0:0.0	.	945	Q7L014	DDX46_HUMAN	V	946;945	ENSP00000416534:A946V;ENSP00000346236:A945V	ENSP00000346236:A945V	A	+	2	0	0	DDX46	134182453	134182453	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.764000	0.85297	2.688000	0.91661	0.655000	0.94253	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_014829			40	39		170	166	1		1	1		0	0	28	0		1	1	0	25	0	135	0	40	170
DDX46	9879	broad.mit.edu	37	5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000354283.4	+	21	3046	c.2911A>G	c.(2911-2913)Acc>Gcc	p.T971A	DDX46_ENST00000452510.2_Missense_Mutation_p.T972A			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	971					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)			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)			AATCAGAGGAACCTACTTCCC	0.418																																					Colon(13;391 453 4901 21675 24897)	ENST00000354283.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2911-2913)Acc>Gcc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							98.0	96.0	96.0					5																	134154631		2203	4300	6503	SO:0001583	missense	9879	0	0					g.chr5:134154631A>G		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.2911A>G	chr5.hg19:g.134154631A>G	ENSP00000346236:p.Thr971Ala	0					DDX46_ENST00000452510.2_Missense_Mutation_p.T972A	p.T971A			1	2	3	2.006602	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	21	3046	+			O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	1	1	hg19	c.2911A>G	CCDS34240.1	1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714081	0.68730	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26660	1.72;1.72	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.72353	2.195	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.21348	-1.0248	10	0.62326	D	0.03	-14.7115	15.9781	0.80086	1.0:0.0:0.0:0.0	.	971	Q7L014	DDX46_HUMAN	A	972;971	ENSP00000416534:T972A;ENSP00000346236:T971A	ENSP00000346236:T971A	T	+	1	0	0	DDX46	134182530	134182530	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.264000	0.78432	2.171000	0.68590	0.533000	0.62120	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	0		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_014829			68	68		230	222	1		1	1		0	0	62	0		1	1	0	62	0	147	0	68	230
CATSPER3	347732	broad.mit.edu	37	5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	248					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537																																						ENST00000282611.6	1.000000	0.870000	1	9.900000e-01	0.990000	0.991430	0.990000	1.000000																										0				18						c.(742-744)aCc>aTc		cation channel, sperm associated 3							277.0	236.0	250.0					5																	134344598		2203	4300	6503	SO:0001583	missense	347732	0	0					g.chr5:134344598C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.743C>T	chr5.hg19:g.134344598C>T	ENSP00000282611:p.Thr248Ile	0						p.T248I	NM_178019.2	NP_821138.1	1	2	3	2.006602	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	5	829	+			Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	1	1	hg19	c.743C>T	CCDS4181.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000152705	ENST00000282611	D	0.98345	-4.88	5.35	5.35	0.76521	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.56097	D	0.000031	D	0.98118	0.9379	L	0.38175	1.15	0.41201	D	0.986372	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	10	0.59425	D	0.04	-43.0996	16.38	0.83452	0.0:1.0:0.0:0.0	.	248	Q86XQ3	CTSR3_HUMAN	I	248	ENSP00000282611:T248I	ENSP00000282611:T248I	T	+	2	0	0	CATSPER3	134372497	134372497	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.677000	0.91161	0.563000	0.77884	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	0	0	1		19	2	2	1		1	1	68		68	68	1	2.060000	-14.003680	1	0.170000	NM_178019			39	38		347	345	1		1	0		1	0	68	0		9.978372e-01	1.586263e-01	0	0	0	7	0	39	347
H2AFY	9555	broad.mit.edu	37	5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000511689.1	-	5	1111	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	173					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)			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)			CTCGGTTGTGCTGTCGGCGCT	0.587																																						ENST00000511689.1	1.000000	0.460000	9.200000e-01	5.800000e-01	0.720000	0.742860	0.720000	1.000000																										0				11						c.(517-519)aGc>aTc		H2A histone family, member Y							109.0	94.0	99.0					5																	134696257		2203	4300	6503	SO:0001583	missense	9555	0	0					g.chr5:134696257C>A	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.518G>T	chr5.hg19:g.134696257C>A	ENSP00000423563:p.Ser173Ile	0					H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000423969.2_Intron	p.S173I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	1	2	3	2.006602	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	5	1111	-			O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	1	1	hg19	c.518G>T	CCDS4185.1	0	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787136	0.90367	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.26373	1.78;1.74;1.83;1.78	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.075115	0.85682	D	0.000000	T	0.52208	0.1720	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.987	P;D;P	0.85130	0.808;0.997;0.648	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	172;173;173	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	I	173;172;173;173	ENSP00000423563:S173I;ENSP00000302572:S172I;ENSP00000310169:S173I;ENSP00000424971:S173I	ENSP00000302572:S172I	S	-	2	0	0	H2AFY	134724156	134724156	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.543000	0.67225	2.760000	0.94817	0.655000	0.94253	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-19.999980	1	0.170000	NM_004893			22	21		347	340	1		1	1		0	0	78	0		9.999986e-01	1	0	100	0	847	0	22	347
NEUROG1	4762	broad.mit.edu	37	5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	101	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706																																						ENST00000314744.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				2						c.(301-303)Gag>Aag		neurogenin 1							34.0	35.0	34.0					5																	134871080		2203	4299	6502	SO:0001583	missense	4762	0	0					g.chr5:134871080C>T	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.301G>A	chr5.hg19:g.134871080C>T	ENSP00000317580:p.Glu101Lys	0						p.E101K	NM_006161.2	NP_006152.2	1	2	3	2.006602	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	1	559	-			Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	1	1	hg19	c.301G>A	CCDS4187.1	1	.	.	.	.	.	.	.	.	.	.	c	32	5.156516	0.94686	.	.	ENSG00000181965	ENST00000314744	D	0.99730	-6.56	4.71	4.71	0.59529	4.71	4.71	0.59529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97390	3.995	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	D	0.96672	0.9497	10	0.66056	D	0.02	-23.8708	17.6476	0.88153	0.0:1.0:0.0:0.0	.	101	Q92886	NGN1_HUMAN	K	101	ENSP00000317580:E101K	ENSP00000317580:E101K	E	-	1	0	0	NEUROG1	134898979	134898979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.696000	0.84270	2.158000	0.67659	0.651000	0.88453	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_006161			19	19		83	82	1		1			0	0	17	0		9.999949e-01	0	0	0	0	0	0	19	83
IL9	3578	broad.mit.edu	37	5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	14					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)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGAGCACAGGAGCAGG	0.577																																						ENST00000274520.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(40-42)Tgc>Cgc		interleukin 9							57.0	62.0	61.0					5																	135231466		2203	4300	6503	SO:0001583	missense	3578	0	0					g.chr5:135231466A>G	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.40T>C	chr5.hg19:g.135231466A>G	ENSP00000274520:p.Cys14Arg	0					GS1-39E22.2_ENST00000522973.1_RNA	p.C14R	NM_000590.1	NP_000581.1	1	2	3	2.006602	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	1	50	-				Missense_Mutation	SNP	ENST00000274520.1	1	1	hg19	c.40T>C	CCDS4189.1	1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617588	0.46736	.	.	ENSG00000145839	ENST00000274520	T	0.45668	0.89	4.37	-1.44	0.08856	4.37	-1.44	0.08856	.	0.570981	0.14837	N	0.295519	T	0.36331	0.0963	L	0.46157	1.445	0.09310	N	0.999999	D	0.54964	0.969	P	0.49276	0.605	T	0.23368	-1.0190	10	0.59425	D	0.04	-1.8883	4.569	0.12200	0.3378:0.3355:0.0:0.3268	.	14	P15248	IL9_HUMAN	R	14	ENSP00000274520:C14R	ENSP00000274520:C14R	C	-	1	0	0	IL9	135259365	135259365	0.010000	0.17322	0.032000	0.17829	0.051000	0.14879	-0.075000	0.11431	-0.025000	0.13918	0.533000	0.62120	TGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	1	0	1		2	2	2	0		0	0	79		79	74	1	2.060000	-3.242427	1	0.170000	NM_000590			71	70		354	347	0		1			0	0	79	0		1	0	0	0	0	0	0	71	354
LECT2	3950	broad.mit.edu	37	5	135287026	135287026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000514447.2_Silent_p.L59L|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	59					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)			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)			GCAGAGCACAAGATGTCCACA	0.473																																						ENST00000274507.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(175-177)Ttg>Ctg		leukocyte cell-derived chemotaxin 2							126.0	111.0	116.0					5																	135287026		2203	4300	6503	SO:0001819	synonymous_variant	3950	0	0					g.chr5:135287026A>G	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.175T>C	chr5.hg19:g.135287026A>G		0					FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L	p.L59L	NM_002302.2	NP_002293.2	1	2	3	2.006602	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	3	375	-			B2RA90|O14565|Q52M49	Silent	SNP	ENST00000274507.1	1	1	hg19	c.175T>C	CCDS4190.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_002302			57	55		230	227	1		1			0	0	71	0		1	0	0	0	0	0	0	57	230
TGFBI	7045	broad.mit.edu	37	5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	240	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562																																						ENST00000442011.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(718-720)Acc>Gcc		transforming growth factor, beta-induced, 68kDa							239.0	235.0	236.0					5																	135383056		2134	4237	6371	SO:0001583	missense	7045	0	0					g.chr5:135383056A>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.718A>G	chr5.hg19:g.135383056A>G	ENSP00000416330:p.Thr240Ala	0					TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	p.T240A	NM_000358.2	NP_000349.1	1	2	3	2.006602	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	6	879	+			D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	1	1	hg19	c.718A>G	CCDS47266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236619|2.236619	0.39498|0.39498	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000305126	.|D;D	.|0.91464	.|-2.85;-2.85	6.0|6.0	2.16|2.16	0.27623|0.27623	6.0|6.0	2.16|2.16	0.27623|0.27623	.|FAS1 domain (2);	.|0.346314	.|0.36268	.|N	.|0.002698	D|D	0.85652|0.85652	0.5746|0.5746	L|L	0.55481|0.55481	1.735|1.735	0.47037|0.47037	D|D	0.999293|0.999293	.|B	.|0.29481	.|0.245	.|B	.|0.25614	.|0.062	T|T	0.76710|0.76710	-0.2859|-0.2859	5|10	.|0.22109	.|T	.|0.4	-6.952|-6.952	11.3332|11.3332	0.49487|0.49487	0.6357:0.0:0.0:0.3643|0.6357:0.0:0.0:0.3643	.|.	.|240	.|Q15582	.|BGH3_HUMAN	R|A	15|240	.|ENSP00000416330:T240A;ENSP00000306306:T240A	.|ENSP00000306306:T240A	H|T	+|+	2|1	0|0	0|0	TGFBI|TGFBI	135410955|135410955	135410955|135410955	0.003000|0.003000	0.15002|0.15002	0.775000|0.775000	0.31657|0.31657	0.891000|0.891000	0.51852|0.51852	1.730000|1.730000	0.38125|0.38125	0.129000|0.129000	0.18514|0.18514	0.454000|0.454000	0.30748|0.30748	CAC|ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1	1	0	1		2	2	2	0		0	0	252		252	250	1	2.060000	-20.000000	1	0.170000				208	207		915	899	1		1	1		0	0	252	0		1	1	0	3	0	1019	0	208	915
TRPC7	57113	broad.mit.edu	37	5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L|TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					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)			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)			GAGCCCTTCCGATATGATCTG	0.522																																						ENST00000513104.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1618-1620)tCg>tTg		transient receptor potential cation channel, subfamily C, member 7							79.0	80.0	80.0					5																	135583384		1947	4145	6092	SO:0001583	missense	57113	0	0					g.chr5:135583384G>A	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.1619C>T	chr5.hg19:g.135583384G>A	ENSP00000426070:p.Ser540Leu	0					TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	p.S540L	NM_020389.2	NP_065122.1	1	2	3	2.006602	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	7	1901	-			A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	1	1	hg19	c.1619C>T	CCDS47267.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.299253	0.95574	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80994	-1.26;-1.44;-1.3	5.65	5.65	0.86999	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	M	0.91717	3.235	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.752;1.0;1.0	D;B;D;D	0.85130	0.992;0.423;0.997;0.995	D	0.93047	0.6462	10	0.87932	D	0	-8.1392	19.9142	0.97043	0.0:0.0:1.0:0.0	.	424;479;485;540	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	479;424;540;540	ENSP00000347312:S479L;ENSP00000441628:S424L;ENSP00000426070:S540L	ENSP00000265193:S540L	S	-	2	0	0	TRPC7	135611283	135611283	1.000000	0.71417	0.927000	0.36925	0.891000	0.51852	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1		15	2	2	1		1	1	88		88	88	1	2.060000	-3.443741	1	0.170000	NM_020389			77	76		310	305	1		1			1	0	88	0		1	0	0	0	0	0	0	77	310
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					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)			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)			CCATACTCAGCCGAGTCCAGG	0.607																																						ENST00000513104.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(151-153)Gct>Act		transient receptor potential cation channel, subfamily C, member 7							96.0	108.0	104.0					5																	135692925		2141	4264	6405	SO:0001583	missense	57113	0	0					g.chr5:135692925C>T	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.151G>A	chr5.hg19:g.135692925C>T	ENSP00000426070:p.Ala51Thr	0					TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	p.A51T	NM_020389.2	NP_065122.1	1	2	3	2.006602	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	2	433	-			A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	1	1	hg19	c.151G>A	CCDS47267.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	0|0	TRPC7|TRPC7	135720824|135720824	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1		2	2	2	0		0	0	164		164	160	1	2.060000	-20.000000	1	0.170000	NM_020389			146	141		732	725	1		1			0	0	164	0		1	0	0	0	0	0	0	146	732
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					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)			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)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener syndrome																													ENST00000265104.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				378						c.(13630-13632)gGc>gAc		dynein, axonemal, heavy chain 5							196.0	186.0	189.0					5																	13700841		2203	4300	6503	SO:0001583	missense	1767	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr5:13700841C>T	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.13631G>A	chr5.hg19:g.13700841C>T	ENSP00000265104:p.Gly4544Asp	0						p.G4544D	NM_001369.2	NP_001360.1	0	0	0	1.967783	Q8TE73	DYH5_HUMAN		78	13735	-	Lung NSC(4;0.00476)		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	1	1	hg19	c.13631G>A	CCDS3882.1	1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	5.07	0.68467	5.95	5.07	0.68467	Dynein heavy chain (1);	0.156736	0.56097	D	0.000027	T	0.26882	0.0658	M	0.80982	2.52	0.58432	D	0.999995	P	0.44816	0.844	P	0.55749	0.783	T	0.02138	-1.1207	10	0.32370	T	0.25	.	17.1138	0.86683	0.0:0.8734:0.1266:0.0	.	4544	Q8TE73	DYH5_HUMAN	D	4544	ENSP00000265104:G4544D	ENSP00000265104:G4544D	G	-	2	0	0	DNAH5	13753841	13753841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.966000	0.56795	1.488000	0.48433	0.650000	0.86243	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1		2	2	2	0		0	0	180		180	178	1	2.060000	-20.000000	1	0.170000	NM_001369			131	128		719	703	1		1	0		0	0	180	0		1	3.576870e-01	0	1	0	7	0	131	719
SPOCK1	6695	broad.mit.edu	37	5	136314408	136314408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:136314408C>T	ENST00000394945.1	-	11	1424	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T|SPOCK1_ENST00000509978.1_5'Flank	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					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)			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)			TCTGTCACGGCTCGGGTGTGC	0.522																																						ENST00000394945.1	1.000000	0.120000	3.000000e-01	1.600000e-01	0.210000	0.279425	0.210000	0.210000																										0				18						c.(1255-1257)Gcc>Acc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							245.0	197.0	213.0					5																	136314408		2203	4300	6503	SO:0001583	missense	6695	0	0					g.chr5:136314408C>T	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.1255G>A	chr5.hg19:g.136314408C>T	ENSP00000378401:p.Ala419Thr	0					SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	p.A419T	NM_004598.3	NP_004589.1	1	2	3	2.006602	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	11	1424	-			B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	0	1	hg19	c.1255G>A	CCDS4191.1	0	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104973	0.77096	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.44083	0.93;0.93	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.066495	0.64402	D	0.000008	T	0.44159	0.1280	L	0.51422	1.61	0.43868	D	0.996476	P	0.47409	0.895	P	0.44518	0.452	T	0.49263	-0.8958	10	0.87932	D	0	.	15.8164	0.78604	0.0:1.0:0.0:0.0	.	419	Q08629	TICN1_HUMAN	T	419	ENSP00000378401:A419T;ENSP00000282223:A419T	ENSP00000282223:A419T	A	-	1	0	0	SPOCK1	136342307	136342307	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.045000	0.64220	2.395000	0.81488	0.557000	0.71058	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	0	0	1		2	2	2	0		0	0	159		159	153	1	2.060000	-2.783794	1	0.170000	NM_004598			14	14		777	745	0		1	1		0	0	159	0		9.996703e-01	8.355285e-01	0	2	0	182	0	14	777
HNRNPA0	10949	broad.mit.edu	37	5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	137	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577																																						ENST00000314940.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(409-411)aaG>aaT		heterogeneous nuclear ribonucleoprotein A0							66.0	64.0	64.0					5																	137089345		2203	4300	6503	SO:0001583	missense	10949	0	0					g.chr5:137089345C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.411G>T	chr5.hg19:g.137089345C>A	ENSP00000316042:p.Lys137Asn	0						p.K137N	NM_006805.3	NP_006796.1	1	2	3	2.006602	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	1	694	-			Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	1	1	hg19	c.411G>T	CCDS4193.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339057	0.81911	.	.	ENSG00000177733	ENST00000314940	D	0.93712	-3.27	4.98	4.98	0.66077	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.95695	0.8600	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95970	0.8969	10	0.87932	D	0	.	13.6089	0.62063	0.0:0.9223:0.0:0.0777	.	137	Q13151	ROA0_HUMAN	N	137	ENSP00000316042:K137N	ENSP00000316042:K137N	K	-	3	2	2	HNRNPA0	137117244	137117244	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.201000	0.51059	2.317000	0.78254	0.305000	0.20034	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_006805			84	83		277	276	1		1	1		0	0	64	0		1	1	0	165	0	627	0	84	277
HNRNPA0	10949	broad.mit.edu	37	5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652																																						ENST00000314940.4	1.000000	0.270000	5.800000e-01	3.500000e-01	0.440000	0.488867	0.440000	0.440000																										0				4						c.(232-234)Gag>Aag		heterogeneous nuclear ribonucleoprotein A0							46.0	50.0	49.0					5																	137089524		2201	4298	6499	SO:0001583	missense	10949	0	0					g.chr5:137089524C>T	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.232G>A	chr5.hg19:g.137089524C>T	ENSP00000316042:p.Glu78Lys	0						p.E78K	NM_006805.3	NP_006796.1	1	2	3	2.006602	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	1	515	-			Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	1	1	hg19	c.232G>A	CCDS4193.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.323860	0.95708	.	.	ENSG00000177733	ENST00000314940	D	0.91894	-2.93	4.97	4.08	0.47627	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.94705	0.7887	10	0.87932	D	0	.	14.475	0.67539	0.1482:0.8517:0.0:0.0	.	78	Q13151	ROA0_HUMAN	K	78	ENSP00000316042:E78K	ENSP00000316042:E78K	E	-	1	0	0	HNRNPA0	137117423	137117423	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.027000	0.70881	1.036000	0.39998	0.305000	0.20034	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	0	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-3.823879	1	0.170000	NM_006805			20	19		528	523	0		1	1		0	0	82	0		9.999948e-01	9.999904e-01	0	25	0	485	0	20	528
MYOT	9499	broad.mit.edu	37	5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000239926.4	+	7	1285	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	304	Ig-like C2-type 1.|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)			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)			TCTGAGAAGGGTCTTCATTCA	0.448																																						ENST00000239926.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(910-912)gGt>gAt		myotilin							128.0	120.0	123.0					5																	137219167		2203	4300	6503	SO:0001583	missense	9499	0	0					g.chr5:137219167G>A	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.911G>A	chr5.hg19:g.137219167G>A	ENSP00000239926:p.Gly304Asp	0					MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|RP11-381K20.2_ENST00000508281.2_RNA	p.G304D	NM_006790.2	NP_006781	1	2	3	2.006602	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	7	1285	+			A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	1	1	hg19	c.911G>A	CCDS4194.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.203947	0.95033	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.08	5.08	0.68730	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80565	0.4647	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81899	-0.0721	10	0.62326	D	0.03	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	304	Q9UBF9	MYOTI_HUMAN	D	304;120;189	ENSP00000239926:G304D;ENSP00000391185:G120D;ENSP00000426281:G189D	ENSP00000239926:G304D	G	+	2	0	0	MYOT	137247066	137247066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_006790			90	89		394	387	1		1	0		0	0	86	0		1	9.263498e-02	0	0	0	3	0	90	394
PKD2L2	27039	broad.mit.edu	37	5	137243502	137243502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508883.1	+	7	1073	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000508638.1_Silent_p.L349L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000290431.5_Silent_p.L349L			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	349					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299																																						ENST00000508883.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				28						c.(1045-1047)ttG>ttA		polycystic kidney disease 2-like 2							106.0	92.0	97.0					5																	137243502		1788	4068	5856	SO:0001819	synonymous_variant	27039	0	0					g.chr5:137243502G>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1047G>A	chr5.hg19:g.137243502G>A		0					PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000508638.1_Silent_p.L349L|PKD2L2_ENST00000290431.5_Silent_p.L349L	p.L349L			1	2	3	2.006602	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	7	1073	+			A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	1	1	hg19	c.1047G>A		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.465520	1	0.170000	NM_014386			24	23		102	103	1		1			0	0	49	0		9.999999e-01	0	0	0	0	0	0	24	102
PKD2L2	27039	broad.mit.edu	37	5	137261573	137261573	+	Silent	SNP	C	C	T	rs201437170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508883.1	+	12	1652	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000508638.1_Silent_p.S441S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000290431.5_Silent_p.S542S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	542					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAAGGCAGCGGAGATTTGG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		19398	0.001		0.0	False		,,,				2504	0.0					ENST00000508883.1	1.000000	0.610000	1	8.100000e-01	0.990000	0.933320	0.990000	1.000000																										0				28						c.(1624-1626)agC>agT		polycystic kidney disease 2-like 2							110.0	97.0	101.0					5																	137261573		1822	4077	5899	SO:0001819	synonymous_variant	27039	7	120774	35				g.chr5:137261573C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1626C>T	chr5.hg19:g.137261573C>T		0					PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000508638.1_Silent_p.S441S|PKD2L2_ENST00000290431.5_Silent_p.S542S	p.S542S			1	2	3	2.006602	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	12	1652	+			A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	1	1	hg19	c.1626C>T		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-7.083410	1	0.170000	NM_014386			14	14		146	145	0		1	0		0	0	30	0		9.997895e-01	9.088843e-03	0	0	0	2	0	14	146
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353																																						ENST00000033079.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1657-1659)Cga>Tga		family with sequence similarity 13, member B							115.0	111.0	112.0					5																	137289150		2203	4299	6502	SO:0001587	stop_gained	51306	1	121408	29				g.chr5:137289150G>A	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.1657C>T	chr5.hg19:g.137289150G>A	ENSP00000033079:p.Arg553*	0					FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	p.R553*	NM_016603.2	NP_057687.2	1	2	3	2.006602	Q9NYF5	FA13B_HUMAN		15	2108	-			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	ENST00000033079.3	0	1	hg19	c.1657C>T	CCDS4195.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	2	FAM13B	137317049	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.704502	1	0.170000				90	90		337	331	1		1	1		0	0	95	0		1	9.999349e-01	0	4	0	51	0	90	337
FAM13B	51306	broad.mit.edu	37	5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R|FAM13B_ENST00000425075.2_5'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	59	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)			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423																																						ENST00000033079.3	1.000000	0.510000	9.300000e-01	6.200000e-01	0.750000	0.766446	0.750000	1.000000																										0				11						c.(175-177)Gga>Aga		family with sequence similarity 13, member B							127.0	118.0	121.0					5																	137354186		2203	4300	6503	SO:0001583	missense	51306	0	0					g.chr5:137354186C>T	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.175G>A	chr5.hg19:g.137354186C>T	ENSP00000033079:p.Gly59Arg	0					FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	p.G59R	NM_016603.2	NP_057687.2	1	2	3	2.006602	Q9NYF5	FA13B_HUMAN		4	626	-			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	1	1	hg19	c.175G>A	CCDS4195.1	0	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452507	0.84209	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.91	5.91	0.95273	5.91	5.91	0.95273	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.86755	0.1963	10	0.87932	D	0	-16.8533	20.2963	0.98556	0.0:1.0:0.0:0.0	.	59;59	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	R	59	ENSP00000033079:G59R;ENSP00000388521:G59R;ENSP00000425326:G59R;ENSP00000424785:G59R;ENSP00000422311:G59R;ENSP00000426863:G59R	ENSP00000033079:G59R	G	-	1	0	0	FAM13B	137382085	137382085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.813000	0.96785	0.655000	0.94253	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.075692	1	0.170000				30	29		453	448	0		1	0		0	0	92	0		1	7.096241e-01	0	0	0	39	0	30	453
WNT8A	7478	broad.mit.edu	37	5	137424615	137424615	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424615G>A	ENST00000398754.1	+	5	372		c.e5-1		WNT8A_ENST00000506684.1_Splice_Site	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A						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)			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)			CTTGTATATAGGAGGCCATGG	0.527																																						ENST00000398754.1	1.000000	0.160000	4.400000e-01	2.200000e-01	0.310000	0.366321	0.310000	0.290000																										0				18						c.e5-1		wingless-type MMTV integration site family, member 8A							71.0	78.0	76.0					5																	137424615		2129	4269	6398	SO:0001630	splice_region_variant	7478	0	0					g.chr5:137424615G>A	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.368-1G>A	chr5.hg19:g.137424615G>A		0					WNT8A_ENST00000506684.1_Splice_Site		NM_058244.2	NP_490645.1	1	2	3	2.006602	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	5	372	+			Q96S51	Splice_Site	SNP	ENST00000398754.1	0	1	hg19		CCDS43368.1	0	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402597	0.83230	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	WNT8A	137452514	137452514	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.395000	0.97266	2.941000	0.99782	0.655000	0.94253	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	0	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.190729	1	0.170000	NM_058244	Intron		12	12		468	458	0		1			0	0	92	0		9.990179e-01	0	0	0	0	0	0	12	468
WNT8A	7478	broad.mit.edu	37	5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000398754.1	+	5	513	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	WNT8A_ENST00000506684.1_Missense_Mutation_p.L188M	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	170					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)			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)			GGCCGGCAGACTGGTGGGTAT	0.488																																						ENST00000398754.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(508-510)Ctg>Atg		wingless-type MMTV integration site family, member 8A							97.0	110.0	106.0					5																	137424756		2203	4300	6503	SO:0001583	missense	7478	0	0					g.chr5:137424756C>A	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.508C>A	chr5.hg19:g.137424756C>A	ENSP00000381739:p.Leu170Met	0					WNT8A_ENST00000506684.1_Missense_Mutation_p.L188M	p.L170M	NM_058244.2	NP_490645.1	1	2	3	2.006602	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	5	513	+			Q96S51	Missense_Mutation	SNP	ENST00000398754.1	1	1	hg19	c.508C>A	CCDS43368.1	1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891650	0.72524	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76316	-1.01;-1.01;-1.01	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.979;0.979;0.994	D;D;D	0.65140	0.913;0.913;0.932	D	0.84319	0.0515	10	0.52906	T	0.07	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs62383479	188;188;170	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	M	188;188;170	ENSP00000426653:L188M;ENSP00000424809:L188M;ENSP00000381739:L170M	ENSP00000354726:L170M	L	+	1	2	2	WNT8A	137452655	137452655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.547000	0.45786	2.941000	0.99782	0.655000	0.94253	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_058244			120	116		515	498	1		1			0	0	133	0		1	0	0	0	0	0	0	120	515
CDC23	8697	broad.mit.edu	37	5	137525388	137525388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	519					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373																																						ENST00000394886.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1555-1557)taC>taT		cell division cycle 23							88.0	82.0	84.0					5																	137525388		2203	4300	6503	SO:0001819	synonymous_variant	8697	0	0					g.chr5:137525388G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1557C>T	chr5.hg19:g.137525388G>A		0						p.Y519Y	NM_004661.3	NP_004652.2	1	2	3	2.006602	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	15	1587	-			A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	1	1	hg19	c.1557C>T	CCDS4200.2	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				50	50		236	230	1		1	1		0	0	56	0		1	9.999998e-01	0	33	0	79	0	50	236
CDC23	8697	broad.mit.edu	37	5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388																																						ENST00000394886.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				23						c.(1540-1542)cGc>cAc		cell division cycle 23							89.0	83.0	85.0					5																	137525404		2203	4300	6503	SO:0001583	missense	8697	0	0					g.chr5:137525404C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1541G>A	chr5.hg19:g.137525404C>T	ENSP00000378350:p.Arg514His	0						p.R514H	NM_004661.3	NP_004652.2	1	2	3	2.006602	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)	15	1571	-			A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	1	1	hg19	c.1541G>A	CCDS4200.2	1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000094880	ENST00000394886	T	0.37584	1.19	5.27	5.27	0.74061	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.38531	1.155	0.80722	D	1	B	0.31241	0.315	B	0.21360	0.034	T	0.04551	-1.0943	10	0.21014	T	0.42	-8.2032	19.0709	0.93136	0.0:1.0:0.0:0.0	.	514	Q9UJX2	CDC23_HUMAN	H	514	ENSP00000378350:R514H	ENSP00000378350:R514H	R	-	2	0	0	CDC23	137553303	137553303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.745000	0.94114	0.462000	0.41574	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-19.999250	1	0.170000				46	45		246	240	1		1	1		0	0	48	0		1	9.999997e-01	0	38	0	86	0	46	246
GFRA3	2676	broad.mit.edu	37	5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	373					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537																																						ENST00000274721.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1117-1119)gaA>gaC		GDNF family receptor alpha 3							59.0	69.0	66.0					5																	137588741		2203	4300	6503	SO:0001583	missense	2676	0	0					g.chr5:137588741T>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1119A>C	chr5.hg19:g.137588741T>G	ENSP00000274721:p.Glu373Asp	0					GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	p.E373D	NM_001496.3	NP_001487.2	1	2	3	2.006602	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	8	1365	-			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	1	1	hg19	c.1119A>C	CCDS4201.1	1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663249	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.52;0.93	5.34	1.24	0.21308	5.34	1.24	0.21308	.	1.200820	0.05729	N	0.599266	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.20638	-1.0269	10	0.16420	T	0.52	0.7164	10.7655	0.46291	0.0:0.0:0.5013:0.4987	.	342;373	O60609-2;O60609	.;GFRA3_HUMAN	D	373;342	ENSP00000274721:E373D;ENSP00000367613:E342D	ENSP00000274721:E373D	E	-	3	2	2	GFRA3	137616640	137616640	0.012000	0.17670	0.002000	0.10522	0.140000	0.21249	-0.101000	0.10973	0.428000	0.26173	0.528000	0.53228	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.981280	1	0.170000	NM_001496			30	29		104	103	1		1	0		0	0	25	0		1	5.698475e-01	0	1	0	7	0	30	104
GFRA3	2676	broad.mit.edu	37	5	137593567	137593567	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652																																						ENST00000274721.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999613	0.990000	1.000000																										0				12						c.(544-546)taC>taT		GDNF family receptor alpha 3							29.0	31.0	30.0					5																	137593567		2203	4300	6503	SO:0001819	synonymous_variant	2676	0	0					g.chr5:137593567G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.546C>T	chr5.hg19:g.137593567G>A		0					GFRA3_ENST00000378362.3_Silent_p.Y151Y	p.Y182Y	NM_001496.3	NP_001487.2	1	2	3	2.006602	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	4	792	-			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	1	1	hg19	c.546C>T	CCDS4201.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.319138	1	0.170000	NM_001496			36	36		247	242	1		1	0		0	0	40	0		1	4.706026e-02	0	0	0	3	0	36	247
DNAH5	1767	broad.mit.edu	37	5	13762877	13762877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13762877G>T	ENST00000265104.4	-	60	10339	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3412	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)			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)					GGAAGCCATAGCTTTCGTCCA	0.458									Kartagener syndrome																													ENST00000265104.4	0.690000	0.230000	5.700000e-01	3.200000e-01	0.430000	0.450256	0.430000	0.420000																										0				378						c.(10234-10236)gCt>gAt		dynein, axonemal, heavy chain 5							84.0	82.0	83.0					5																	13762877		2203	4300	6503	SO:0001583	missense	1767	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr5:13762877G>T	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.10235C>A	chr5.hg19:g.13762877G>T	ENSP00000265104:p.Ala3412Asp	0					DNAH5_ENST00000504001.3_5'UTR	p.A3412D	NM_001369.2	NP_001360.1	0	0	0	1.967783	Q8TE73	DYH5_HUMAN		60	10339	-	Lung NSC(4;0.00476)		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	1	1	hg19	c.10235C>A	CCDS3882.1	0	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411584	0.83340	.	.	ENSG00000039139	ENST00000265104	T	0.74106	-0.81	5.32	5.32	0.75619	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94723	0.7902	10	0.72032	D	0.01	.	18.9925	0.92798	0.0:0.0:1.0:0.0	.	3412	Q8TE73	DYH5_HUMAN	D	3412	ENSP00000265104:A3412D	ENSP00000265104:A3412D	A	-	2	0	0	DNAH5	13815877	13815877	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	9.807000	0.99171	2.494000	0.84150	0.313000	0.20887	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-12.814420	1	0.170000	NM_001369			12	12		315	305	0		1	0		0	0	57	0		9.989851e-01	0	0	0	0	1	0	12	315
DNAH5	1767	broad.mit.edu	37	5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3307	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.A3307T(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)					CGAACAGTGGCGATGTCCGAA	0.522									Kartagener syndrome																													ENST00000265104.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A3307T(1)	large_intestine(1)	378						c.(9919-9921)Gcc>Acc		dynein, axonemal, heavy chain 5							95.0	92.0	93.0					5																	13766267		2203	4300	6503	SO:0001583	missense	1767	4	121412	39	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr5:13766267C>T	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.9919G>A	chr5.hg19:g.13766267C>T	ENSP00000265104:p.Ala3307Thr	0					DNAH5_ENST00000504001.3_Intron	p.A3307T	NM_001369.2	NP_001360.1	0	0	0	1.967783	Q8TE73	DYH5_HUMAN		59	10023	-	Lung NSC(4;0.00476)		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	1	1	hg19	c.9919G>A	CCDS3882.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127535	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.69685	-0.42	5.63	5.63	0.86233	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.052284	0.85682	N	0.000000	T	0.64886	0.2639	L	0.49778	1.585	0.80722	D	1	B	0.17038	0.02	B	0.25884	0.064	T	0.58261	-0.7667	10	0.24483	T	0.36	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3307	Q8TE73	DYH5_HUMAN	T	3307	ENSP00000265104:A3307T	ENSP00000265104:A3307T	A	-	1	0	0	DNAH5	13819267	13819267	1.000000	0.71417	0.284000	0.24805	0.684000	0.39900	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1		2	2	2	0		0	0	118		118	114	1	2.060000	-3.142871	1	0.170000	NM_001369			92	90		532	528	1		1	0		0	0	118	0		1	2.220157e-02	0	1	0	1	0	92	532
GFRA3	2676	broad.mit.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T	rs201874513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547													C|||	9	0.00179712	0.0	0.0	5008	,	,		20608	0.0089		0.0	False		,,,				2504	0.0					ENST00000274721.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				12						c.(364-366)cGt>cAt		GDNF family receptor alpha 3							79.0	72.0	74.0					5																	137599964		2203	4300	6503	SO:0001583	missense	2676	84	121408	50				g.chr5:137599964C>T	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.365G>A	chr5.hg19:g.137599964C>T	ENSP00000274721:p.Arg122His	0					GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	p.R122H	NM_001496.3	NP_001487.2	1	2	3	2.006602	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	2	611	-			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	1	1	hg19	c.365G>A	CCDS4201.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	0	GFRA3	137627863	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.318719	1	0.170000	NM_001496			53	53		343	338	1		1	0		0	0	92	0		1	1.870254e-02	0	0	0	2	0	53	343
FAM53C	51307	broad.mit.edu	37	5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	212										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)			TCCCCTCAAAGTGGCTCCTGG	0.627																																						ENST00000239906.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(634-636)aGt>aAt		family with sequence similarity 53, member C							139.0	157.0	151.0					5																	137681012		2203	4300	6503	SO:0001583	missense	51307	0	0					g.chr5:137681012G>A	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.635G>A	chr5.hg19:g.137681012G>A	ENSP00000239906:p.Ser212Asn	0					FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N	p.S212N	NM_016605.2	NP_057689.1	1	2	3	2.006602	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	4	1063	+			B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	1	1	hg19	c.635G>A	CCDS4204.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.47177	0.85;0.85	5.55	4.68	0.58851	5.55	4.68	0.58851	.	0.257713	0.45126	N	0.000392	T	0.65698	0.2716	M	0.72353	2.195	0.80722	D	1	D	0.54772	0.968	D	0.70487	0.969	T	0.66893	-0.5808	9	.	.	.	-1.3068	13.3265	0.60463	0.0768:0.0:0.9232:0.0	.	212	Q9NYF3	FA53C_HUMAN	N	212	ENSP00000403705:S212N;ENSP00000239906:S212N	.	S	+	2	0	0	FAM53C	137708911	137708911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	1.575000	0.49775	0.655000	0.94253	AGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	0	0	1		2	2	2	0		0	0	271		271	267	1	2.060000	-20.000000	1	0.170000	NM_016605			253	248		1249	1224	1		1	1		0	0	271	0		1	9.999993e-01	0	17	0	79	0	253	1249
FAM53C	51307	broad.mit.edu	37	5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	253										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)			AGCTCTCCCGCATCCTCCCCA	0.657																																						ENST00000239906.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(757-759)gCa>gTa		family with sequence similarity 53, member C							50.0	60.0	56.0					5																	137681135		2203	4300	6503	SO:0001583	missense	51307	0	0					g.chr5:137681135C>T	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.758C>T	chr5.hg19:g.137681135C>T	ENSP00000239906:p.Ala253Val	0					FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V	p.A253V	NM_016605.2	NP_057689.1	1	2	3	2.006602	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	4	1186	+			B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	1	1	hg19	c.758C>T	CCDS4204.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.346|9.346	1.064224|1.064224	0.20067|0.20067	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.45668|0.50277	0.89;0.89|0.75	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.257566|.	0.40469|.	N|.	0.001100|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.47190|0.47190	1.495|1.495	0.29900|0.29900	N|N	0.824489|0.824489	B|P	0.33238|0.52692	0.403|0.955	B|B	0.22601|0.41088	0.04|0.347	T|T	0.54050|0.54050	-0.8351|-0.8351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.7722|-3.7722	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|63	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|Y	253|63	ENSP00000403705:A253V;ENSP00000239906:A253V|ENSP00000425154:H63Y	ENSP00000239906:A253V|ENSP00000425154:H63Y	A|H	+|+	2|1	0|0	0|0	FAM53C|FAM53C	137709034|137709034	137709034|137709034	0.675000|0.675000	0.27558|0.27558	0.775000|0.775000	0.31657|0.31657	0.053000|0.053000	0.15095|0.15095	3.901000|3.901000	0.56303|0.56303	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	1	0	1		2	2	2	0		0	0	106		106	102	1	2.060000	-20.000000	1	0.170000	NM_016605			157	150		589	567	1		1	1		0	0	106	0		1	9.999989e-01	0	16	0	58	0	157	589
KDM3B	51780	broad.mit.edu	37	5	137765648	137765648	+	Silent	SNP	C	C	A	rs199823957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1629	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)			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						GGGAGCTGCTCCGAAAGGTAC	0.527																																						ENST00000314358.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4885-4887)ctC>ctA		lysine (K)-specific demethylase 3B							57.0	56.0	56.0					5																	137765648		2203	4300	6503	SO:0001819	synonymous_variant	51780	0	0					g.chr5:137765648C>A	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.4887C>A	chr5.hg19:g.137765648C>A		0					KDM3B_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	p.L1629L	NM_016604.3	NP_057688	1	2	3	2.006602	Q7LBC6	KDM3B_HUMAN		21	5087	+			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	1	1	hg19	c.4887C>A	CCDS34242.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_016604			36	35		149	147	1		1	1		0	0	40	0		1	1	0	45	0	118	0	36	149
KDM3B	51780	broad.mit.edu	37	5	137767233	137767233	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1730					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)			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						ATACAAATCATGAGGATAAAC	0.423																																						ENST00000314358.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(5188-5190)caT>caC		lysine (K)-specific demethylase 3B							86.0	85.0	85.0					5																	137767233		2203	4300	6503	SO:0001819	synonymous_variant	51780	0	0					g.chr5:137767233T>C	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.5190T>C	chr5.hg19:g.137767233T>C		0					KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	p.H1730H	NM_016604.3	NP_057688	1	2	3	2.006602	Q7LBC6	KDM3B_HUMAN		23	5390	+			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	1	1	hg19	c.5190T>C	CCDS34242.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_016604			84	82		285	278	1		1	1		0	0	72	0		1	1	0	29	0	94	0	84	285
EGR1	1958	broad.mit.edu	37	5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A	rs538748263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	40					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|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)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667																																						ENST00000239938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(118-120)Ctg>Atg		early growth response 1							77.0	69.0	72.0					5																	137801568		2203	4300	6503	SO:0001583	missense	1958	1	121410	25				g.chr5:137801568C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.118C>A	chr5.hg19:g.137801568C>A	ENSP00000239938:p.Leu40Met	0						p.L40M	NM_001964.2	NP_001955.1	1	2	3	2.006602	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	1	390	+				Missense_Mutation	SNP	ENST00000239938.4	1	1	hg19	c.118C>A	CCDS4206.1	1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697751	0.48307	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14391	2.51	5.0	4.12	0.48240	5.0	4.12	0.48240	.	0.123911	0.53938	N	0.000047	T	0.09686	0.0238	L	0.28344	0.845	0.41657	D	0.989166	P;B	0.34864	0.473;0.001	B;B	0.32393	0.145;0.005	T	0.19353	-1.0308	10	0.14656	T	0.56	-6.652	14.8172	0.70045	0.1452:0.8548:0.0:0.0	.	40;40	B4DNX4;P18146	.;EGR1_HUMAN	M	40	ENSP00000239938:L40M	ENSP00000239938:L40M	L	+	1	2	2	EGR1	137829467	137829467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.304000	0.44892	0.486000	0.48141	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_001964			104	104		422	418	0		1	1	0	0	0	93	0		1	9.784568e-01	0	5	1	22	0	104	422
EGR1	1958	broad.mit.edu	37	5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|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)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637																																						ENST00000239938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(556-558)caG>caT		early growth response 1							111.0	116.0	114.0					5																	137802696		2203	4300	6503	SO:0001583	missense	1958	0	0					g.chr5:137802696G>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.558G>T	chr5.hg19:g.137802696G>T	ENSP00000239938:p.Gln186His	0						p.Q186H	NM_001964.2	NP_001955.1	1	2	3	2.006602	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	2	830	+				Missense_Mutation	SNP	ENST00000239938.4	1	1	hg19	c.558G>T	CCDS4206.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270913	0.40194	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24723	1.84	4.75	3.88	0.44766	4.75	3.88	0.44766	.	0.381500	0.27096	N	0.020949	T	0.40398	0.1115	L	0.53249	1.67	0.37369	D	0.911532	D	0.61697	0.99	D	0.64237	0.923	T	0.42865	-0.9426	10	0.62326	D	0.03	-10.3652	9.4134	0.38505	0.0798:0.1441:0.776:0.0	.	186	P18146	EGR1_HUMAN	H	186	ENSP00000239938:Q186H	ENSP00000239938:Q186H	Q	+	3	2	2	EGR1	137830595	137830595	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.315000	0.65810	0.992000	0.38840	0.305000	0.20034	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	0	0	1		2	2	2	0		0	0	201		201	195	1	2.060000	-20.000000	1	0.170000	NM_001964			236	233		1022	996	1		1	1		0	0	201	0		1	9.999953e-01	0	5	0	70	0	236	1022
HSPA9	3313	broad.mit.edu	37	5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	108					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.Q108Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTGACAGCCTGTCGCTTGG	0.498																																						ENST00000297185.3	1.000000	0.350000	7.000000e-01	4.400000e-01	0.540000	0.582836	0.540000	0.520000																										1	Substitution - coding silent(1)	p.Q108Q(1)	large_intestine(1)	28						c.(322-324)caG>caT		heat shock 70kDa protein 9 (mortalin)							109.0	99.0	102.0					5																	137906735		2203	4300	6503	SO:0001583	missense	3313	0	0					g.chr5:137906735C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.324G>T	chr5.hg19:g.137906735C>A	ENSP00000297185:p.Gln108His	0						p.Q108H	NM_004134.6	NP_004125.3	1	2	3	2.006602	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	4	449	-			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	1	1	hg19	c.324G>T	CCDS4208.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.839122|3.839122	0.71373|0.71373	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.01203|.	5.18;5.18;5.18|.	5.34|5.34	2.52|2.52	0.30459|0.30459	5.34|5.34	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.88796|0.88796	0.3281|0.3281	10|6	0.87932|0.72032	D|D	0|0.01	-10.1034|-10.1034	10.3089|10.3089	0.43697|0.43697	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	39;108|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	H|M	108;94;39;39|78	ENSP00000297185:Q108H;ENSP00000425598:Q39H;ENSP00000423098:Q39H|.	ENSP00000297185:Q108H|ENSP00000438817:R78M	Q|R	-|-	3|2	2|0	2|0	HSPA9|HSPA9	137934634|137934634	137934634|137934634	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.649000|0.649000	0.24843|0.24843	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-5.007798	1	0.170000	NM_004134			24	24		508	502	0		1	1		0	0	74	0		9.999996e-01	1	0	37	0	633	0	24	508
CTNNA1	1495	broad.mit.edu	37	5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A	rs369518072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000302763.7	+	7	989	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	300					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)			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)			AGCGAGGAGCGCTTTAGGCCT	0.507																																						ENST00000302763.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(898-900)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	72.0	67.0	69.0		899	5.9	1.0	5		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTNNA1	NM_001903.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	300/907	138163244	1,13005	2203	4300	6503	SO:0001583	missense	1495	2	121412	33				g.chr5:138163244G>A	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.899G>A	chr5.hg19:g.138163244G>A	ENSP00000304669:p.Arg300His	0					CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	p.R300H	NM_001903.2	NP_001894.2	1	2	3	2.006602	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	7	989	+			Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	1	1	hg19	c.899G>A	CCDS34243.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	0.0	1.16E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42900	0.96;0.96;0.96	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.58428	1.81	0.80722	D	1	B;P	0.36010	0.211;0.532	B;B	0.34824	0.052;0.19	T	0.35895	-0.9770	10	0.45353	T	0.12	-9.6509	19.8512	0.96741	0.0:0.0:1.0:0.0	.	300;300	G3XAM7;P35221	.;CTNA1_HUMAN	H	197;300;300;285;300	ENSP00000347190:R197H;ENSP00000304669:R300H;ENSP00000427821:R300H	ENSP00000304669:R300H	R	+	2	0	0	CTNNA1	138191143	138191143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-4.000998	1	0.170000	NM_001903			69	69		236	234	1		1	1		0	0	57	0		1	1	0	313	0	672	0	69	236
CTNNA1	1495	broad.mit.edu	37	5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000302763.7	+	8	1177	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000540387.1_5'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	363	Interaction with alpha-actinin.				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)			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)			AAGAAGTGATGCACTCAATTC	0.368																																						ENST00000302763.7	1.000000	0.630000	1	7.400000e-01	0.880000	0.874884	0.880000	1.000000																										0				52						c.(1087-1089)Gca>Aca		catenin (cadherin-associated protein), alpha 1, 102kDa							137.0	143.0	141.0					5																	138221925		2203	4300	6503	SO:0001583	missense	1495	0	0					g.chr5:138221925G>A	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.1087G>A	chr5.hg19:g.138221925G>A	ENSP00000304669:p.Ala363Thr	0					CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_5'UTR	p.A363T	NM_001903.2	NP_001894.2	1	2	3	2.006602	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	8	1177	+			Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	1	1	hg19	c.1087G>A	CCDS34243.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559375	0.27827	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.95	0.65309	5.82	4.95	0.65309	.	0.103523	0.64402	D	0.000004	T	0.30510	0.0767	N	0.21373	0.66	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.008	B;B;B	0.19666	0.025;0.006;0.026	T	0.06789	-1.0807	10	0.15066	T	0.55	-10.4149	15.9414	0.79756	0.0:0.0:0.8638:0.1362	.	363;240;363	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	260;363;363;348;363	ENSP00000347190:A260T;ENSP00000304669:A363T;ENSP00000427821:A363T	ENSP00000304669:A363T	A	+	1	0	0	CTNNA1	138249824	138249824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.597000	0.67577	1.447000	0.47661	-0.182000	0.12963	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-9.788200	1	0.170000	NM_001903			40	39		506	500	1		1	1		0	0	139	0		1	1	0	153	0	752	0	40	506
CTNNA1	1495	broad.mit.edu	37	5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000302763.7	+	12	1709	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	540					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)			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)			GGCCTGGACCGCACAGCTGGT	0.498																																						ENST00000302763.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				52						c.(1618-1620)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	55.0	50.0	52.0		1619	5.5	1.0	5	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTNNA1	NM_001903.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	540/907	138260271	2,13004	2203	4300	6503	SO:0001583	missense	1495	5	121412	36				g.chr5:138260271G>A	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.1619G>A	chr5.hg19:g.138260271G>A	ENSP00000304669:p.Arg540His	0					CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H	p.R540H	NM_001903.2	NP_001894.2	1	2	3	2.006602	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	12	1709	+			Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	1	1	hg19	c.1619G>A	CCDS34243.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189748	0.78789	0.0	2.33E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.45285	1.41	0.80722	D	1	B;B;B	0.13594	0.008;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.013	T	0.05818	-1.0862	10	0.29301	T	0.29	-9.4098	19.3816	0.94540	0.0:0.0:1.0:0.0	.	540;417;540	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	437;540;540;525;540;170	ENSP00000347190:R437H;ENSP00000304669:R540H;ENSP00000427821:R540H;ENSP00000438476:R170H	ENSP00000304669:R540H	R	+	2	0	0	CTNNA1	138288170	138288170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.164800	1	0.170000	NM_001903			29	28		141	139	1		1	1		0	0	34	0		1	1	0	430	0	934	0	29	141
CTNNA1	1495	broad.mit.edu	37	5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000302763.7	+	14	2005	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	639					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)			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)			TGAGGAGTTGGATGACTCTGA	0.572																																						ENST00000302763.7	1.000000	0.630000	1	7.300000e-01	0.860000	0.861391	0.860000	1.000000																										0				52						c.(1915-1917)Gat>Aat		catenin (cadherin-associated protein), alpha 1, 102kDa							112.0	114.0	113.0					5																	138264950		2203	4300	6503	SO:0001583	missense	1495	0	0					g.chr5:138264950G>A	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.1915G>A	chr5.hg19:g.138264950G>A	ENSP00000304669:p.Asp639Asn	0					CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N	p.D639N	NM_001903.2	NP_001894.2	1	2	3	2.006602	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	14	2005	+			Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	1	1	hg19	c.1915G>A	CCDS34243.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.265546	0.95399	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.65498	2.005	0.80722	D	1	P;P;B	0.36412	0.552;0.464;0.316	B;B;B	0.42087	0.274;0.375;0.245	T	0.35126	-0.9801	10	0.38643	T	0.18	-21.8087	19.3974	0.94612	0.0:0.0:1.0:0.0	.	639;516;639	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	536;639;639;624;639;269	ENSP00000347190:D536N;ENSP00000304669:D639N;ENSP00000427821:D639N;ENSP00000438476:D269N	ENSP00000304669:D639N	D	+	1	0	0	CTNNA1	138292849	138292849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-10.445300	1	0.170000	NM_001903			46	46		596	589	1		1	1		0	0	117	0		1	1	0	183	0	1133	0	46	596
SIL1	64374	broad.mit.edu	37	5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|CTB-46B19.2_ENST00000510110.1_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	251	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			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)			AAGGCAGCGCCCAGCACAAAC	0.527									Marinesco-Sjgren syndrome																													ENST00000394817.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(751-753)Ggc>Agc		SIL1 nucleotide exchange factor							112.0	91.0	98.0					5																	138356876		2203	4300	6503	SO:0001583	missense	64374	2	121412	32	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	g.chr5:138356876C>T	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.751G>A	chr5.hg19:g.138356876C>T	ENSP00000378294:p.Gly251Ser	0					CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|CTB-46B19.2_ENST00000512875.2_RNA	p.G251S	NM_022464.4	NP_071909.1	1	2	3	2.006602	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	7	890	-			D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	1	1	hg19	c.751G>A	CCDS4209.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.089502	0.94149	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.38	5.38	0.77491	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72421	-0.4299	10	0.33141	T	0.24	-34.4582	19.0941	0.93242	0.0:1.0:0.0:0.0	.	57;258;251	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	251;251;166;258;57	ENSP00000378294:G251S;ENSP00000265195:G251S;ENSP00000426858:G258S;ENSP00000425136:G57S	ENSP00000265195:G251S	G	-	1	0	0	SIL1	138384775	138384775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.265000	0.72534	2.669000	0.90835	0.563000	0.77884	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.000389	1	0.170000	NM_022464			50	49		251	245	1		1	1		0	0	82	0		1	1	0	73	0	207	0	50	251
MATR3	9782	broad.mit.edu	37	5	138643992	138643992	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394805.3	+	2	1223	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					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)			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)			GCTCTATATGTGATTTGCCAG	0.383																																						ENST00000394805.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(886-888)tgT>tgC		matrin 3							119.0	120.0	119.0					5																	138643992		2203	4300	6503	SO:0001819	synonymous_variant	9782	0	0					g.chr5:138643992T>C	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.888T>C	chr5.hg19:g.138643992T>C		0					MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000394800.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron	p.C296C	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	1	2	3	2.006602	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	2	1223	+			B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	1	1	hg19	c.888T>C	CCDS4210.1	1	.	.	.	.	.	.	.	.	.	.	T	2.205	-0.382054	0.04966	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.4	4.23	0.50019	5.4	4.23	0.50019	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-10.153	10.9343	0.47237	0.0:0.0738:0.0:0.9262	.	.	.	.	A	70	.	.	V	+	2	0	0	MATR3	138671891	138671891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.171000	0.68590	0.459000	0.35465	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	1	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-20.000000	1	0.170000	NM_018834			169	167		708	695	1		1	1		0	0	170	0		1	1	0	78	0	238	0	169	708
ECSCR	641700	broad.mit.edu	37	5	138837382	138837382	+	Silent	SNP	G	G	A	rs147720581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	39					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GACTTAGACCGCCAAGGCCTC	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17859	0.001		0.0	False		,,,				2504	0.0					ENST00000515823.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999298	0.990000	1.000000																										0										c.(115-117)ggC>ggT		endothelial cell surface expressed chemotaxis and apoptosis regulator		G		0,4100		0,0,2050	51.0	61.0	58.0		117	2.8	0.0	5	dbSNP_134	58	1,8373		0,1,4186	no	coding-synonymous	ECSCR	NM_001077693.2		0,1,6236	AA,AG,GG		0.0119,0.0,0.0080		39/206	138837382	1,12473	2050	4187	6237	SO:0001819	synonymous_variant	641700	21	120956	40				g.chr5:138837382G>A	DQ462572	CCDS75317.1	5q31.2	2012-03-21	2012-03-21			ENSG00000249751			35454	protein-coding gene	gene with protein product	"""endothelial cell-specific molecule 2"", ""apoptosis regulator through modulating IAP expression"""	615736	"""endothelial cell-specific chemotaxis regulator"""			18556573	Standard	NM_001077693		Approved	ECSM2, ARIA	uc011cze.1	Q19T08		ENST00000515823.1:c.117C>T	chr5.hg19:g.138837382G>A		0						p.G39G	NM_001077693.2	NP_001071161.1	1	2	3	2.006602	Q19T08	ECSCR_HUMAN		3	189	-			B4E3H7|C3RSF2	Silent	SNP	ENST00000515823.1	1	1	hg19	c.117C>T		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372342.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.490409	1	0.170000	NM_001077693			14	14		66	62	1		1	0		0	0	21	0		9.997791e-01	9.993517e-01	0	1	0	64	0	14	66
TMEM173	340061	broad.mit.edu	37	5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	169	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517																																						ENST00000330794.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(505-507)Cgg>Tgg		transmembrane protein 173							61.0	55.0	57.0					5																	138860390		2203	4300	6503	SO:0001583	missense	340061	0	0					g.chr5:138860390G>A		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.505C>T	chr5.hg19:g.138860390G>A	ENSP00000331288:p.Arg169Trp	0					TMEM173_ENST00000511850.1_5'UTR	p.R169W	NM_198282.2	NP_938023.1	1	2	3	2.006602	Q86WV6	STING_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	5	838	-			A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	1	1	hg19	c.505C>T	CCDS4215.1	1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437981	0.62955	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.26223	1.75;1.75	4.4	-0.251	0.13003	4.4	-0.251	0.13003	.	0.490146	0.20599	N	0.089186	T	0.38585	0.1046	M	0.63428	1.95	0.35366	D	0.788627	D	0.71674	0.998	P	0.56700	0.804	T	0.56685	-0.7938	10	0.87932	D	0	-16.9345	13.4541	0.61189	0.0:0.0:0.3906:0.6094	.	169	Q86WV6	TM173_HUMAN	W	169	ENSP00000331288:R169W;ENSP00000427455:R169W	ENSP00000331288:R169W	R	-	1	2	2	TMEM173	138840574	138840574	0.999000	0.42202	0.997000	0.53966	0.921000	0.55340	0.573000	0.23699	0.091000	0.17302	-0.314000	0.08810	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	1	0	0		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_198282			33	31		133	131	1		1	1		0	0	39	0		1	1	0	11	0	203	0	33	133
TMEM173	340061	broad.mit.edu	37	5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	161	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562																																						ENST00000330794.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(481-483)tgG>tgA		transmembrane protein 173							74.0	67.0	69.0					5																	138860412		2203	4300	6503	SO:0001587	stop_gained	340061	0	0					g.chr5:138860412C>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.483G>A	chr5.hg19:g.138860412C>T	ENSP00000331288:p.Trp161*	0					TMEM173_ENST00000511850.1_5'UTR	p.W161*	NM_198282.2	NP_938023.1	1	2	3	2.006602	Q86WV6	STING_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)	5	816	-			A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Nonsense_Mutation	SNP	ENST00000330794.4	0	1	hg19	c.483G>A	CCDS4215.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.777147	0.96929	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	.	.	.	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.071294	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2374	17.106	0.86663	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331288:W161X	W	-	3	0	0	TMEM173	138840596	138840596	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.888000	0.69758	2.363000	0.80096	0.561000	0.74099	TGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_198282			36	34		150	146	0		1	1		0	0	50	0		1	1	0	8	0	200	0	36	150
PSD2	84249	broad.mit.edu	37	5	139189208	139189208	+	Silent	SNP	G	G	A	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	61					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)			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)			AGGAACCCACGAAGGACCCAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.0					ENST00000274710.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(181-183)acG>acA		pleckstrin and Sec7 domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		183	-4.1	0.0	5	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	PSD2	NM_032289.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		61/772	139189208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84249	5	121412	37				g.chr5:139189208G>A	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.183G>A	chr5.hg19:g.139189208G>A		0						p.T61T	NM_032289.2	NP_115665.1	1	2	3	2.006602	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	388	+			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	1	1	hg19	c.183G>A	CCDS4216.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_032289			53	53		255	253	1		1			0	0	76	0		1	0	0	0	0	0	0	53	255
PURA	5813	broad.mit.edu	37	5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	158					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACATGGATCTCAAGGAGA	0.706																																						ENST00000331327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(472-474)gaT>gaG		purine-rich element binding protein A							16.0	20.0	19.0					5																	139494240		2200	4294	6494	SO:0001583	missense	5813	0	0					g.chr5:139494240T>G	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.474T>G	chr5.hg19:g.139494240T>G	ENSP00000332706:p.Asp158Glu	0						p.D158E	NM_005859.4	NP_005850.1	1	2	3	2.006602	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	533	+				Missense_Mutation	SNP	ENST00000331327.3	1	1	hg19	c.474T>G	CCDS4220.1	1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769690	0.90020	.	.	ENSG00000185129	ENST00000331327	T	0.50277	0.75	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76203	-0.3045	10	0.59425	D	0.04	-3.9698	14.3864	0.66947	0.0:0.0:0.0:1.0	.	158	Q00577	PURA_HUMAN	E	158	ENSP00000332706:D158E	ENSP00000332706:D158E	D	+	3	2	2	PURA	139474424	139474424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	2.073000	0.62155	0.533000	0.62120	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_005859			42	42		171	168	1		1	1		0	0	28	0		1	1.053251e-01	0	2	0	1	0	42	171
PFDN1	5201	broad.mit.edu	37	5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000510217.1_3'UTR|PFDN1_ENST00000514611.1_Intron|CYSTM1_ENST00000509789.2_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	93					'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)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328																																						ENST00000261813.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(277-279)gAa>gCa		prefoldin subunit 1							86.0	79.0	81.0					5																	139661041		2202	4296	6498	SO:0001583	missense	5201	0	0					g.chr5:139661041T>G	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.278A>C	chr5.hg19:g.139661041T>G	ENSP00000261813:p.Glu93Ala	0					PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000514611.1_Intron|PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron	p.E93A	NM_002622.4	NP_002613.2	1	2	3	2.006602	O60925	PFD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	325	-			B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	ENST00000261813.4	1	1	hg19	c.278A>C	CCDS4222.1	1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124391	0.37533	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	5.8	5.8	0.92144	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.37897	1.145	0.80722	D	1	B	0.17667	0.023	B	0.21151	0.033	T	0.13072	-1.0523	10	0.08837	T	0.75	-12.5849	14.3845	0.66934	0.0:0.0:0.0:1.0	.	93	O60925	PFD1_HUMAN	A	93	ENSP00000261813:E93A;ENSP00000428707:E93A	ENSP00000261813:E93A	E	-	2	0	0	PFDN1	139641225	139641225	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.285000	0.65633	2.221000	0.72209	0.528000	0.53228	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_002622			36	34		120	119	1		1	1		0	0	26	0		1	1	0	77	0	209	0	36	120
ANKHD1	54882	broad.mit.edu	37	5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000360839.2	+	3	656	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D168Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	168						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)			AGCTTTTGCAGATCCTGAGGT	0.433																																						ENST00000360839.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.998588	0.990000	1.000000																										0				60						c.(502-504)Gat>Tat		ankyrin repeat and KH domain containing 1							201.0	184.0	190.0					5																	139818087		2203	4300	6503	SO:0001583	missense	54882	0	0					g.chr5:139818087G>T	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.502G>T	chr5.hg19:g.139818087G>T	ENSP00000354085:p.Asp168Tyr	0					ANKHD1_ENST00000297183.6_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	p.D168Y	NM_017747.2	NP_060217.1	1	2	3	2.006602	Q8IWZ3	ANKH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	656	+			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	0	1	hg19	c.502G>T	CCDS4225.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876600|4.876600	0.91664|0.91664	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000511151|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.|T;T;T;T;T;T	.|0.73789	.|-0.75;-0.78;-0.6;-0.4;-0.28;-0.78	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.123818	.|0.51477	.|D	.|0.000086	.|T	.|0.81380	.|0.4810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;P;D	.|0.76494	.|0.917;0.999;0.999;0.917;0.973	.|P;D;D;P;P	.|0.81914	.|0.776;0.995;0.995;0.851;0.894	.|T	.|0.83144	.|-0.0107	.|10	.|0.72032	.|D	.|0.01	.|.	19.2594|19.2594	0.93961|0.93961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;168;168;157;168	.|Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.|.;.;ANKH1_HUMAN;.;.	.|Y	-1|168;182;168;168;168;168;157;168	.|ENSP00000354085:D168Y;ENSP00000297183:D168Y;ENSP00000394489:D168Y;ENSP00000378212:D168Y;ENSP00000378211:D157Y;ENSP00000432016:D168Y	.|ENSP00000432016:D168Y	.|D	+|+	.|1	.|0	.|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139798271|139798271	139798271|139798271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	.|GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	1	0	1		2	2	2	0		0	0	168		168	168	1	2.060000	-20.000000	1	0.170000	NM_017747			87	86		767	755	1		1	1		0	0	168	0		1	9.991114e-01	0	17	0	74	0	87	767
ANKHD1	54882	broad.mit.edu	37	5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000360839.2	+	15	2499	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000297183.6_Missense_Mutation_p.T782I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	782						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)			GTAGAGGAGACTGAAGGCAAG	0.453																																						ENST00000360839.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2344-2346)aCt>aTt		ankyrin repeat and KH domain containing 1							98.0	93.0	94.0					5																	139876204		2203	4300	6503	SO:0001583	missense	54882	0	0					g.chr5:139876204C>T	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.2345C>T	chr5.hg19:g.139876204C>T	ENSP00000354085:p.Thr782Ile	0					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000297183.6_Missense_Mutation_p.T782I	p.T782I	NM_017747.2	NP_060217.1	1	2	3	2.006602	Q8IWZ3	ANKH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	15	2499	+			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	1	1	hg19	c.2345C>T	CCDS4225.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788684	0.70337	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.69040	-0.34;-0.37;-0.29;-0.37	5.76	5.76	0.90799	5.76	5.76	0.90799	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.77247	-0.2658	10	0.51188	T	0.08	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	782;782;782	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	I	782;815;782;782;316;801;782	ENSP00000354085:T782I;ENSP00000297183:T782I;ENSP00000394489:T801I;ENSP00000432016:T782I	ENSP00000432016:T782I	T	+	2	0	0	ANKHD1-EIF4EBP3;ANKHD1	139856388	139856388	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	ACT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_017747			86	86		347	330	1		1	1		0	0	85	0		1	9.999998e-01	0	34	0	57	0	86	347
ANKHD1	54882	broad.mit.edu	37	5	139876462	139876462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876462C>T	ENST00000360839.2	+	15	2757	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S868F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	868						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)			GACACAGTGTCTCTACACCAA	0.448																																						ENST00000360839.2	1.000000	0.190000	4.800000e-01	2.600000e-01	0.350000	0.401047	0.350000	0.330000																										0				60						c.(2602-2604)tCt>tTt		ankyrin repeat and KH domain containing 1							101.0	100.0	101.0					5																	139876462		2203	4300	6503	SO:0001583	missense	54882	0	0					g.chr5:139876462C>T	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.2603C>T	chr5.hg19:g.139876462C>T	ENSP00000354085:p.Ser868Phe	0					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S868F	p.S868F	NM_017747.2	NP_060217.1	1	2	3	2.006602	Q8IWZ3	ANKH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	15	2757	+			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	1	1	hg19	c.2603C>T	CCDS4225.1	0	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724921	0.15439	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.65916	-0.13;-0.18;-0.09;-0.18	5.46	2.68	0.31781	5.46	2.68	0.31781	Ankyrin repeat-containing domain (1);	0.692985	0.14036	N	0.345792	T	0.40398	0.1115	N	0.08118	0	0.21878	N	0.999491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34079	-0.9843	10	0.56958	D	0.05	.	9.5072	0.39053	0.0:0.6112:0.0:0.3888	.	868;868;868	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	868;901;868;868;402;887;868	ENSP00000354085:S868F;ENSP00000297183:S868F;ENSP00000394489:S887F;ENSP00000432016:S868F	ENSP00000432016:S868F	S	+	2	0	0	ANKHD1-EIF4EBP3;ANKHD1	139856646	139856646	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.699000	0.37804	0.788000	0.33755	0.585000	0.79938	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	0	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-3.422296	1	0.170000	NM_017747			13	13		449	445	0		1	1		0	0	117	0		9.995189e-01	6.418539e-01	0	3	0	72	0	13	449
APBB3	10307	broad.mit.edu	37	5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	APBB3_ENST00000358580.5_3'UTR|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	436	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662																																						ENST00000357560.4	1.000000	0.780000	1	9.200000e-01	0.990000	0.972033	0.990000	1.000000																										0				11						c.(1306-1308)aaG>aaT		amyloid beta (A4) precursor protein-binding, family B, member 3							27.0	32.0	30.0					5																	139938323		2199	4294	6493	SO:0001583	missense	10307	0	0					g.chr5:139938323C>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1308G>T	chr5.hg19:g.139938323C>A	ENSP00000350171:p.Lys436Asn	0					APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000358580.5_3'UTR|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N	p.K436N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	1	2	3	2.006602	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	13	1751	-			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	1	1	hg19	c.1308G>T	CCDS4229.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601921	0.66445	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.52057	1.69;1.69;1.7;0.68;1.7	4.76	2.93	0.34026	4.76	2.93	0.34026	.	0.567069	0.17031	N	0.189702	T	0.40398	0.1115	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.943	P;P	0.47864	0.559;0.522	T	0.21008	-1.0258	9	.	.	.	-7.5614	4.3405	0.11108	0.0:0.6128:0.2073:0.1799	.	434;441	O95704-2;O95704-3	.;.	N	441;443;436;213;434	ENSP00000349177:K441N;ENSP00000346378:K443N;ENSP00000350171:K436N;ENSP00000444013:K213N;ENSP00000402591:K434N	.	K	-	3	2	2	APBB3	139918507	139918507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	0.973000	0.38340	0.455000	0.32223	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_006051			36	36		359	351	0		1	1		0	0	56	0		1	8.012373e-01	0	7	0	25	0	36	359
APBB3	10307	broad.mit.edu	37	5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000357560.4	-	5	847	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|SLC35A4_ENST00000323146.3_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	135	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582																																						ENST00000357560.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(403-405)gCa>gTa		amyloid beta (A4) precursor protein-binding, family B, member 3							133.0	139.0	137.0					5																	139942032		2203	4300	6503	SO:0001583	missense	10307	0	0					g.chr5:139942032G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.404C>T	chr5.hg19:g.139942032G>A	ENSP00000350171:p.Ala135Val	0					APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|SLC35A4_ENST00000514199.1_5'Flank	p.A135V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	1	2	3	2.006602	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	5	847	-			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	1	1	hg19	c.404C>T	CCDS4229.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058791	0.55325	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.12	2.14	0.27477	5.12	2.14	0.27477	.	0.254754	0.39985	N	0.001220	T	0.20170	0.0485	L	0.61218	1.895	0.35821	D	0.824607	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.13872	-1.0493	9	.	.	.	-0.5437	10.3978	0.44211	0.2033:0.0:0.7967:0.0	.	135;135	O95704-2;O95704-3	.;.	V	135	ENSP00000351389:A135V;ENSP00000349177:A135V;ENSP00000346378:A135V;ENSP00000350171:A135V;ENSP00000402591:A135V;ENSP00000424317:A135V	.	A	-	2	0	0	APBB3	139922216	139922216	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.725000	0.61979	0.113000	0.18004	-0.142000	0.14014	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	1		2	2	2	0		0	0	237		237	237	1	2.060000	-20.000000	1	0.170000	NM_006051			195	193		977	961	1		1	1		0	0	237	0		1	9.855555e-01	0	7	0	28	0	195	977
APBB3	10307	broad.mit.edu	37	5	139943436	139943436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000357560.4	-	2	557	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000356738.2_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|SLC35A4_ENST00000323146.3_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	38	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597																																						ENST00000357560.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(112-114)atC>atT		amyloid beta (A4) precursor protein-binding, family B, member 3							85.0	79.0	81.0					5																	139943436		2203	4300	6503	SO:0001819	synonymous_variant	10307	0	0					g.chr5:139943436G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.114C>T	chr5.hg19:g.139943436G>A		0					APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Silent_p.I38I|SLC35A4_ENST00000514199.1_5'Flank	p.I38I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	1	2	3	2.006602	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	557	-			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	1	1	hg19	c.114C>T	CCDS4229.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_006051			44	44		199	195	1		1	1		0	0	42	0		1	9.895629e-01	0	8	0	27	0	44	199
SLC35A4	113829	broad.mit.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592																																						ENST00000514199.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R137L(1)	kidney(1)	13						c.(409-411)cGc>cAc		solute carrier family 35, member A4							41.0	42.0	42.0					5																	139947164		2203	4300	6503	SO:0001583	missense	113829	4	121412	36				g.chr5:139947164G>A	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>A	chr5.hg19:g.139947164G>A	ENSP00000424566:p.Arg137His	0					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H|APBB3_ENST00000357560.4_5'Flank	p.R137H			1	2	3	2.006602	Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	2096	+			A8K013	Missense_Mutation	SNP	ENST00000514199.1	1	1	hg19	c.410G>A	CCDS4231.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856334	0.51376	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49720	0.77;0.77	5.11	4.23	0.50019	5.11	4.23	0.50019	.	0.062145	0.64402	N	0.000009	T	0.46521	0.1397	M	0.72894	2.215	0.53005	D	0.999962	B	0.31351	0.32	B	0.29942	0.109	T	0.44097	-0.9350	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	H	137	ENSP00000327133:R137H;ENSP00000424566:R137H	.	R	+	2	0	0	SLC35A4	139927348	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_080670			83	83		274	269	1		1	1		0	0	74	0		1	1	0	49	0	163	0	83	274
SLC35A4	113829	broad.mit.edu	37	5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	191	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612																																						ENST00000514199.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(571-573)cTc>cCc		solute carrier family 35, member A4							99.0	94.0	95.0					5																	139947326		2203	4300	6503	SO:0001583	missense	113829	0	0					g.chr5:139947326T>C	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.572T>C	chr5.hg19:g.139947326T>C	ENSP00000424566:p.Leu191Pro	0					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P	p.L191P			1	2	3	2.006602	Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	2258	+			A8K013	Missense_Mutation	SNP	ENST00000514199.1	1	1	hg19	c.572T>C	CCDS4231.1	1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493211	0.26774	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.66426	0.2788	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68135	-0.5489	9	.	.	.	-9.4098	13.9451	0.64080	0.0:0.0:0.0:1.0	.	191	Q96G79	S35A4_HUMAN	P	191	ENSP00000327133:L191P;ENSP00000424566:L191P	.	L	+	2	0	0	SLC35A4	139927510	139927510	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	7.487000	0.81328	1.961000	0.56991	0.379000	0.24179	CTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000	NM_080670			130	129		514	503	1		1	1		0	0	134	0		1	1	0	63	0	173	0	130	514
CD14	929	broad.mit.edu	37	5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	303				D -> E (in Ref. 5; AAC83816). {ECO:0000305}.	apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602																																						ENST00000302014.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(907-909)Gat>Aat		CD14 molecule							59.0	58.0	58.0					5																	140011662		2203	4300	6503	SO:0001583	missense	929	0	0					g.chr5:140011662C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.907G>A	chr5.hg19:g.140011662C>T	ENSP00000304236:p.Asp303Asn	0					CD14_ENST00000401743.2_Missense_Mutation_p.D303N	p.D303N	NM_000591.3	NP_000582.1	1	2	3	2.006602	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	1536	-			Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	1	1	hg19	c.907G>A	CCDS4232.1	1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375894	0.61735	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.19938	2.11;2.11	6.06	4.2	0.49525	6.06	4.2	0.49525	.	0.000000	0.51477	D	0.000087	T	0.19805	0.0476	M	0.64404	1.975	0.30579	N	0.762722	P	0.41947	0.766	B	0.36504	0.226	T	0.29150	-1.0021	10	0.87932	D	0	-14.6982	7.7506	0.28894	0.0:0.7523:0.1631:0.0846	.	303	P08571	CD14_HUMAN	N	303	ENSP00000304236:D303N;ENSP00000385519:D303N	ENSP00000304236:D303N	D	-	1	0	0	CD14	139991846	139991846	0.364000	0.24997	0.607000	0.28956	0.961000	0.63080	1.209000	0.32357	1.584000	0.49913	0.655000	0.94253	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	0	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-3.403522	1	0.170000	NM_000591			58	58		267	262	1		1	1		0	0	65	0		1	1	0	9	0	525	0	58	267
TMCO6	55374	broad.mit.edu	37	5	140023463	140023463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	TMCO6_ENST00000252100.6_Silent_p.V345V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.V99V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	339					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537																																						ENST00000394671.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1015-1017)gtG>gtT		transmembrane and coiled-coil domains 6							94.0	104.0	101.0					5																	140023463		2075	4235	6310	SO:0001819	synonymous_variant	55374	0	0					g.chr5:140023463G>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1017G>T	chr5.hg19:g.140023463G>T		0					TMCO6_ENST00000252100.6_Silent_p.V345V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.V99V	p.V339V	NM_018502.3	NP_060972.3	1	2	3	2.006602	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	9	1118	+			Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	1	1	hg19	c.1017G>T	CCDS4233.2	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.606362	1	0.170000	NM_018502			81	80		310	306	1		1	1		0	0	78	0		1	9.998977e-01	0	12	0	41	0	81	310
IK	3550	broad.mit.edu	37	5	140040342	140040342	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463																																						ENST00000417647.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				1						c.e16-1		IK cytokine, down-regulator of HLA II							234.0	230.0	231.0					5																	140040342		1993	4177	6170	SO:0001630	splice_region_variant	3550	0	0					g.chr5:140040342G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1356-1G>T	chr5.hg19:g.140040342G>T		0							NM_006083.3	NP_006074.2	1	2	3	2.006602	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	16	1494	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	Q6IPD8	Splice_Site	SNP	ENST00000417647.2	1	1	hg19		CCDS47280.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086207	0.76642	.	.	ENSG00000113141	ENST00000417647	.	.	.	4.41	4.41	0.53225	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7911	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	IK	140020526	140020526	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.261000	0.74972	0.655000	0.94253	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	0	0	1		15	2	2	1		1	1	65		65	65	1	2.060000	-2.900321	1	0.170000	NM_006083	Intron		47	45		246	238	1		1	0		1	0	65	0		9.999941e-01	0	0	1	0	0	0	47	246
WDR55	54853	broad.mit.edu	37	5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527																																						ENST00000358337.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(601-603)cGg>cAg		WD repeat domain 55							84.0	78.0	80.0					5																	140048517		2203	4300	6503	SO:0001583	missense	54853	2	121412	36				g.chr5:140048517G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.602G>A	chr5.hg19:g.140048517G>A	ENSP00000351100:p.Arg201Gln	0					WDR55_ENST00000520764.1_3'UTR	p.R201Q	NM_017706.4	NP_060176	1	2	3	2.006602	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	5	839	+			Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	1	1	hg19	c.602G>A	CCDS4235.1	1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879096	0.72294	.	.	ENSG00000120314	ENST00000358337	T	0.28069	1.63	5.44	4.57	0.56435	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.42471	0.1204	M	0.66939	2.045	0.53005	D	0.999968	D;D	0.69078	0.993;0.997	P;P	0.58331	0.837;0.808	T	0.46596	-0.9180	10	0.05525	T	0.97	-10.756	13.3211	0.60434	0.0779:0.0:0.922:0.0	.	40;201	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Q	201	ENSP00000351100:R201Q	ENSP00000351100:R201Q	R	+	2	0	0	WDR55	140028701	140028701	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	9.449000	0.97603	1.289000	0.44618	0.467000	0.42956	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	1	0	1		2	2	2	0		0	0	65		65	63	1	2.060000	-2.760043	1	0.170000	NM_017706			67	65		297	291	1		1	1		0	0	65	0		1	9.999997e-01	0	33	0	66	0	67	297
WDR55	54853	broad.mit.edu	37	5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	369					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGACTCCATGGCTCAG	0.527																																						ENST00000358337.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999866	0.990000	1.000000																										0				9						c.(1105-1107)tCc>tAc		WD repeat domain 55							46.0	47.0	47.0					5																	140049193		2203	4300	6503	SO:0001583	missense	54853	0	0					g.chr5:140049193C>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1106C>A	chr5.hg19:g.140049193C>A	ENSP00000351100:p.Ser369Tyr	0					WDR55_ENST00000520764.1_3'UTR	p.S369Y	NM_017706.4	NP_060176	1	2	3	2.006602	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	7	1343	+			Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	1	1	hg19	c.1106C>A	CCDS4235.1	1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130747	0.08981	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.08	3.28	0.37604	5.08	3.28	0.37604	.	2.952420	0.01434	U	0.014845	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20140	-1.0284	10	0.62326	D	0.03	1.6088	5.5687	0.17184	0.2574:0.5876:0.0:0.155	.	369	Q9H6Y2	WDR55_HUMAN	Y	369	ENSP00000351100:S369Y	ENSP00000351100:S369Y	S	+	2	0	0	WDR55	140029377	140029377	0.000000	0.05858	0.031000	0.17742	0.426000	0.31534	1.067000	0.30616	1.124000	0.41980	-0.444000	0.05651	TCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-14.017800	1	0.170000	NM_017706			23	22		121	119	1		1	1		0	0	43	0		9.999996e-01	9.999996e-01	0	41	0	100	0	23	121
HARS	3035	broad.mit.edu	37	5	140056961	140056961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504156.1	-	8	1493	c.774C>T	c.(772-774)ggC>ggT	p.G258G	HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000504366.1_Silent_p.G189G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	258					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602																																						ENST00000504156.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(772-774)ggC>ggT		histidyl-tRNA synthetase	L-Histidine(DB00117)						169.0	142.0	151.0					5																	140056961		2203	4300	6503	SO:0001819	synonymous_variant	3035	0	0					g.chr5:140056961G>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.774C>T	chr5.hg19:g.140056961G>A		0					HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000504366.1_Silent_p.G189G|HARS_ENST00000457527.2_Silent_p.G238G	p.G258G	NM_002109.4	NP_002100.2	1	2	3	2.006602	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	8	1493	-			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	1	1	hg19	c.774C>T	CCDS4237.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-3.151657	1	0.170000	NM_002109			87	85		442	430	1		1	1		0	0	111	0		1	1	0	78	0	184	0	87	442
PCDHA1	56147	broad.mit.edu	37	5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	612	Cadherin 6. {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)			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)			ATGAACTGCAGCCGGCAGCAG	0.677																																						ENST00000504120.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(1834-1836)caG>caT		protocadherin alpha 1							75.0	78.0	77.0					5																	140167711		2203	4299	6502	SO:0001583	missense	56147	0	0					g.chr5:140167711G>T	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.1836G>T	chr5.hg19:g.140167711G>T	ENSP00000420840:p.Gln612His	0					PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	p.Q612H	NM_018900.2	NP_061723.1	1	2	3	2.006602	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1836	+			O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	1	1	hg19	c.1836G>T	CCDS54913.1	1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.107277	0.01813	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.5	1.63	0.23807	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	1.601980	0.05045	U	0.476965	T	0.34454	0.0898	L	0.33668	1.02	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20577	0.03;0.013	T	0.25641	-1.0126	10	0.40728	T	0.16	.	0.9002	0.01272	0.3148:0.1704:0.3632:0.1517	.	612;612	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	612	ENSP00000420840:Q612H;ENSP00000367373:Q612H	ENSP00000367373:Q612H	Q	+	3	2	2	PCDHA1	140147895	140147895	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.399000	0.34566	0.113000	0.18004	-0.439000	0.05793	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	1	0	1		2	2	2	0		0	0	117		117	113	1	2.060000	-20.000000	1	0.170000	NM_018900			141	141		568	554	1		1	0		0	0	117	0		1	0	0	1	0	0	0	141	568
PCDHA2	56146	broad.mit.edu	37	5	140175911	140175911	+	Silent	SNP	G	G	A	rs540494529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000526136.1	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	454	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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGTTCGCACAGC	0.647																																						ENST00000526136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1360-1362)gcG>gcA		protocadherin alpha 2							78.0	79.0	78.0					5																	140175911		2203	4300	6503	SO:0001819	synonymous_variant	56146	0	0					g.chr5:140175911G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1362G>A	chr5.hg19:g.140175911G>A		0					PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron	p.A454A	NM_018905.2	NP_061728.1	1	2	3	2.006602	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1362	+			O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	1	1	hg19	c.1362G>A	CCDS54914.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	0		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_018905			127	124		559	556	1		1			0	0	115	0		1	0	0	0	0	0	0	127	559
PCDHA2	56146	broad.mit.edu	37	5	140175956	140175956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000526136.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667																																						ENST00000526136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1405-1407)ccG>ccA		protocadherin alpha 2							60.0	65.0	63.0					5																	140175956		2203	4300	6503	SO:0001819	synonymous_variant	56146	0	0					g.chr5:140175956G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1407G>A	chr5.hg19:g.140175956G>A		0					PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron	p.P469P	NM_018905.2	NP_061728.1	1	2	3	2.006602	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1407	+			O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	1	1	hg19	c.1407G>A	CCDS54914.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	0		2	2	2	0		0	0	104		104	100	1	2.060000	-20.000000	1	0.170000	NM_018905			140	138		548	536	1		1			0	0	104	0		1	0	0	0	0	0	0	140	548
PCDHA2	56146	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																						ENST00000526136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1627-1629)ccG>ccA		protocadherin alpha 2							61.0	64.0	63.0					5																	140176178		2203	4296	6499	SO:0001819	synonymous_variant	56146	1	121118	39				g.chr5:140176178G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1629G>A	chr5.hg19:g.140176178G>A		0					PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron	p.P543P	NM_018905.2	NP_061728.1	1	2	3	2.006602	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1629	+			O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	1	1	hg19	c.1629G>A	CCDS54914.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1		15	2	2	0		0	1	152		152	170	1	2.060000	-20.000000	1	0.170000	NM_018905			137	135		579	549	0		1			0	0	152	0		1	0	0	0	0	0	0	137	579
PCDHA2	56146	broad.mit.edu	37	5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000526136.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	582					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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657																																						ENST00000526136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1744-1746)cCg>cTg		protocadherin alpha 2							112.0	104.0	107.0					5																	140176294		2203	4299	6502	SO:0001583	missense	56146	0	0					g.chr5:140176294C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1745C>T	chr5.hg19:g.140176294C>T	ENSP00000431748:p.Pro582Leu	0					PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron	p.P582L	NM_018905.2	NP_061728.1	1	2	3	2.006602	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1745	+			O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	1	1	hg19	c.1745C>T	CCDS54914.1	1	.	.	.	.	.	.	.	.	.	.	c	7.812	0.715864	0.15306	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39229	1.09;1.09;1.09	3.91	2.96	0.34315	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.689444	0.11686	U	0.539348	T	0.31827	0.0809	L	0.28608	0.87	0.23351	N	0.997858	B;B;B	0.30406	0.236;0.278;0.236	B;B;B	0.24269	0.021;0.052;0.046	T	0.27331	-1.0077	10	0.59425	D	0.04	.	13.5997	0.62011	0.0:0.8437:0.1563:0.0	.	582;582;582	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	582	ENSP00000430584:P582L;ENSP00000367372:P582L;ENSP00000431748:P582L	ENSP00000367372:P582L	P	+	2	0	0	PCDHA2	140156478	140156478	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.184000	0.42575	1.917000	0.55516	0.549000	0.68633	CCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-3.017429	1	0.170000	NM_018905			117	114		512	505	1		1	0		0	0	114	0		1	0	0	0	0	1	0	117	512
PCDHA2	56146	broad.mit.edu	37	5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000526136.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	729					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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662																																						ENST00000526136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2185-2187)Gag>Aag		protocadherin alpha 2							56.0	57.0	57.0					5																	140176734		2203	4299	6502	SO:0001583	missense	56146	1	121374	34				g.chr5:140176734G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2185G>A	chr5.hg19:g.140176734G>A	ENSP00000431748:p.Glu729Lys	0					PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	p.E729K	NM_018905.2	NP_061728.1	1	2	3	2.006602	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2185	+			O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	1	1	hg19	c.2185G>A	CCDS54914.1	1	.	.	.	.	.	.	.	.	.	.	g	6.745	0.506288	0.12883	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.13657	2.57;2.57;2.57	2.91	1.05	0.20165	2.91	1.05	0.20165	.	1.627180	0.04542	U	0.388267	T	0.24736	0.0600	M	0.89601	3.045	0.09310	N	1	B;B;B	0.24368	0.102;0.064;0.1	B;B;B	0.23852	0.049;0.024;0.046	T	0.36335	-0.9752	10	0.54805	T	0.06	.	5.3552	0.16057	0.4654:0.0:0.5346:0.0	.	729;729;729	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	729	ENSP00000430584:E729K;ENSP00000367372:E729K;ENSP00000431748:E729K	ENSP00000367372:E729K	E	+	1	0	0	PCDHA2	140156918	140156918	0.051000	0.20477	0.128000	0.21923	0.009000	0.06853	0.980000	0.29513	0.262000	0.21774	0.585000	0.79938	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-3.332275	1	0.170000	NM_018905			136	135		544	538	1		1			0	0	101	0		1	0	0	0	0	0	0	136	544
PCDHA3	56145	broad.mit.edu	37	5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000522353.2	+	1	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			AGCTACGTGTCGGTACACGCG	0.697																																						ENST00000522353.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(1525-1527)tCg>tTg		protocadherin alpha 3							74.0	75.0	75.0					5																	140182308		2203	4299	6502	SO:0001583	missense	56145	0	0					g.chr5:140182308C>T	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.1526C>T	chr5.hg19:g.140182308C>T	ENSP00000429808:p.Ser509Leu	0					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.S509L	NM_018906.2	NP_061729.1	1	2	3	2.006602	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1526	+			O75286	Missense_Mutation	SNP	ENST00000522353.2	1	1	hg19	c.1526C>T	CCDS54915.1	1	.	.	.	.	.	.	.	.	.	.	c	19.17	3.775803	0.70107	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.75	4.75	0.60458	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001610	T	0.74816	0.3766	M	0.79926	2.475	0.30931	N	0.72689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77816	-0.2447	10	0.87932	D	0	.	18.1666	0.89729	0.0:1.0:0.0:0.0	.	509;509	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	509	ENSP00000429808:S509L;ENSP00000434086:S509L	ENSP00000429808:S509L	S	+	2	0	0	PCDHA3	140162492	140162492	0.685000	0.27652	0.996000	0.52242	0.848000	0.48234	1.360000	0.34125	2.374000	0.81015	0.461000	0.40582	TCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	0		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_018906			171	169		744	730	1		1			0	0	127	0		1	0	0	0	0	0	0	171	744
PCDHA5	56143	broad.mit.edu	37	5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	368	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)			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)			CAGCACGGTCATTGCTCTGAT	0.537																																						ENST00000529859.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1102-1104)Att>Gtt		protocadherin alpha 5							106.0	95.0	99.0					5																	140202462		2203	4300	6503	SO:0001583	missense	56143	0	0					g.chr5:140202462A>G	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.1102A>G	chr5.hg19:g.140202462A>G	ENSP00000436557:p.Ile368Val	0					PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V	p.I368V	NM_018908.2	NP_061731.1	1	2	3	2.006602	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1102	+			O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	1	1	hg19	c.1102A>G	CCDS54917.1	1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.614497	0.00835	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.41758	0.99;0.99;0.99	3.84	3.84	0.44239	3.84	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.02357	-0.585	0.24350	N	0.994924	B;B;B	0.27971	0.196;0.163;0.163	P;B;B	0.46208	0.507;0.133;0.21	T	0.40136	-0.9579	9	0.38643	T	0.18	.	4.7341	0.12979	0.7127:0.0:0.2873:0.0	.	368;368;368	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	368	ENSP00000433416:I368V;ENSP00000436557:I368V;ENSP00000367366:I368V	ENSP00000367366:I368V	I	+	1	0	0	PCDHA5	140182646	140182646	0.615000	0.27026	0.168000	0.22838	0.075000	0.17131	1.124000	0.31320	1.492000	0.48499	0.460000	0.39030	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_018908			111	109		443	436	1		1			0	0	116	0		1	0	0	0	0	0	0	111	443
PCDHA5	56143	broad.mit.edu	37	5	140202725	140202725	+	Silent	SNP	G	G	A	rs373077783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CGGCGTTCGCGCAGCCCCAGT	0.677																																						ENST00000529859.1	1.000000	0.290000	5.500000e-01	3.600000e-01	0.440000	0.484213	0.440000	0.440000																										0				60						c.(1363-1365)gcG>gcA		protocadherin alpha 5		G	,,,,,,	0,4406		0,0,2203	71.0	73.0	72.0		,,,,1365,,1365	0.7	1.0	5		72	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,	,,,,455/937,,455/817	140202725	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56143	1	121412	36				g.chr5:140202725G>A	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.1365G>A	chr5.hg19:g.140202725G>A		0					PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A	p.A455A	NM_018908.2	NP_061731.1	1	2	3	2.006602	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1365	+			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	1	1	hg19	c.1365G>A	CCDS54917.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	0	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-3.561316	1	0.170000	NM_018908			28	28		740	735	0		1	0		0	0	149	0		1	0	0	0	0	1	0	28	740
PCDHA5	56143	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	748					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.S748S(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)			GGAGCTGGTCGTACTCGCAGC	0.647																																						ENST00000529859.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.S748S(2)	lung(2)	60						c.(2242-2244)tcG>tcA		protocadherin alpha 5							72.0	65.0	67.0					5																	140203604		2203	4300	6503	SO:0001819	synonymous_variant	56143	0	0					g.chr5:140203604G>A	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.2244G>A	chr5.hg19:g.140203604G>A		0					PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S	p.S748S	NM_018908.2	NP_061731.1	1	2	3	2.006602	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2244	+			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	1	1	hg19	c.2244G>A	CCDS54917.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_018908			68	69		256	252	1		1			0	0	53	0		1	0	0	0	0	0	0	68	256
PCDHA6	56142	broad.mit.edu	37	5	140208858	140208858	+	Silent	SNP	T	T	C	rs393935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208858T>C	ENST00000529310.1	+	1	1296	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_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	394	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)			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)			CTCACGTCCCTTTCAAGCTGG	0.562																																						ENST00000529310.1	1.000000	0.150000	3.100000e-01	1.900000e-01	0.230000	0.296235	0.230000	0.230000																										0				89						c.(1180-1182)ccT>ccC		protocadherin alpha 6							182.0	170.0	174.0					5																	140208858		2203	4300	6503	SO:0001819	synonymous_variant	56142	2	121412	34				g.chr5:140208858T>C	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.1182T>C	chr5.hg19:g.140208858T>C		0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.P394P	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	1	2	3	2.006602	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1296	+			O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	0	1	hg19	c.1182T>C	CCDS47281.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	0	0	1		2	2	2	0		0	0	238		238	236	1	2.060000	-2.383048	0	0.170000	NM_018909			25	23		1247	1233	0		1	0		0	0	238	0		9.999998e-01	4.321729e-04	0	0	0	2	0	25	1247
PCDHA7	56141	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	323	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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(967-969)gtC>gtT		protocadherin alpha 7							138.0	122.0	127.0					5																	140214937		2203	4300	6503	SO:0001819	synonymous_variant	56141	0	0					g.chr5:140214937C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.969C>T	chr5.hg19:g.140214937C>T		0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.V323V	NM_018910.2	NP_061733.1	1	2	3	2.006602	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	969	+			O75282	Silent	SNP	ENST00000525929.1	1	1	hg19	c.969C>T	CCDS54918.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	1		2	2	2	0		0	0	65		65	84	1	2.060000	-3.396478	1	0.170000	NM_018910			64	64		274	265	0		1	0		0	0	65	0		1	0	0	0	0	1	0	64	274
PCDHA8	56140	broad.mit.edu	37	5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	253	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)			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)			AAGAATATTCGAAAACGCAGA	0.433																																						ENST00000531613.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.996228	0.990000	1.000000																										0				78						c.(757-759)Gaa>Aaa		protocadherin alpha 8							62.0	61.0	61.0					5																	140221663		2203	4299	6502	SO:0001583	missense	56140	0	0					g.chr5:140221663G>A	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.757G>A	chr5.hg19:g.140221663G>A	ENSP00000434655:p.Glu253Lys	0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.E253K	NM_018911.2	NP_061734.1	1	2	3	2.006602	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	757	+			B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	1	1	hg19	c.757G>A	CCDS54919.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.174784	0.94807	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.76316	-1.01;-1.01	3.73	3.73	0.42828	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001967	D	0.93973	0.8070	H	0.99929	4.97	0.44168	D	0.99697	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97151	0.9831	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	253	ENSP00000434655:E253K;ENSP00000367363:E253K	ENSP00000367363:E253K	E	+	1	0	0	PCDHA8	140201847	140201847	1.000000	0.71417	0.475000	0.27278	0.191000	0.23601	7.880000	0.87243	1.799000	0.52666	0.558000	0.71614	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	1	0	1		2	2	2	0		0	0	66		66	67	1	2.060000	-15.066060	1	0.170000	NM_018911			40	40		333	327	1		1			0	0	66	0		1	0	0	0	0	0	0	40	333
PCDHA8	56140	broad.mit.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			TGCGCGAGACGCGGACGCGCA	0.657																																						ENST00000531613.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1444-1446)Gcg>Acg		protocadherin alpha 8							47.0	53.0	51.0					5																	140222350		2195	4261	6456	SO:0001583	missense	56140	0	0					g.chr5:140222350G>A	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.1444G>A	chr5.hg19:g.140222350G>A	ENSP00000434655:p.Ala482Thr	0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.A482T	NM_018911.2	NP_061734.1	1	2	3	2.006602	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1444	+			B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	1	1	hg19	c.1444G>A	CCDS54919.1	1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	0	PCDHA8	140202534	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	1	0	1		2	2	2	0		0	0	151		151	132	1	2.060000	-20.000000	1	0.170000	NM_018911			115	105		602	545	0		1			0	0	151	0		1	0	0	0	0	0	0	115	602
PCDHA9	9752	broad.mit.edu	37	5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000532602.1	+	1	2372	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	447	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)			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)			GGAGGTGGCCGACGTGAACGA	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999467	0.990000	1.000000																										0				59						c.(1339-1341)Gac>Aac		protocadherin alpha 9							88.0	83.0	85.0					5																	140229419		2196	4271	6467	SO:0001583	missense	9752	0	0					g.chr5:140229419G>A	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.1339G>A	chr5.hg19:g.140229419G>A	ENSP00000436042:p.Asp447Asn	0					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.D447N	NM_031857.1	NP_114063.1	1	2	3	2.006602	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2372	+			O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	1	1	hg19	c.1339G>A	CCDS54920.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557030	0.86231	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.84298	-1.83;-1.83	3.56	3.56	0.40772	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.94614	0.8264	H	0.96048	3.76	0.43107	D	0.994801	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96709	0.9524	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	447	ENSP00000436042:D447N;ENSP00000367362:D447N	ENSP00000367362:D447N	D	+	1	0	0	PCDHA9	140209603	140209603	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1		2	2	2	0		0	0	148		148	146	1	2.060000	-20.000000	1	0.170000	NM_031857			87	86		733	727	1		1	0		0	0	148	0		1	0	0	0	0	1	0	87	733
PCDHA9	9752	broad.mit.edu	37	5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G	rs370317629		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000532602.1	+	1	2481	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	483	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)			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)			CGGGACGCTGACGCGCAGGAG	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1447-1449)gAc>gGc		protocadherin alpha 9		A	GLY/ASP,,,,,,,,,,,GLY/ASP	0,4390		0,0,2195	55.0	62.0	60.0		1448,,,,,,,,,,,1448	3.6	1.0	5		60	1,8529	1.2+/-3.3	0,1,4264	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	94,,,,,,,,,,,94	0,1,6459	GG,GA,AA		0.0117,0.0,0.0077	,,,,,,,,,,,	483/843,,,,,,,,,,,483/951	140229528	1,12919	2195	4265	6460	SO:0001583	missense	9752	1	120762	27				g.chr5:140229528A>G	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.1448A>G	chr5.hg19:g.140229528A>G	ENSP00000436042:p.Asp483Gly	0					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.D483G	NM_031857.1	NP_114063.1	1	2	3	2.006602	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2481	+			O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	1	1	hg19	c.1448A>G	CCDS54920.1	1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971122	0.53614	0.0	1.17E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74632	-0.86;-0.86	3.56	3.56	0.40772	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.91092	0.7196	H	0.98721	4.31	0.43179	D	0.994999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93890	0.7179	10	0.87932	D	0	.	12.6265	0.56632	1.0:0.0:0.0:0.0	.	483;483	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	G	483	ENSP00000436042:D483G;ENSP00000367362:D483G	ENSP00000367362:D483G	D	+	2	0	0	PCDHA9	140209712	140209712	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.623000	0.74238	1.606000	0.50161	0.254000	0.18369	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_031857			160	158		655	645	1		1	0		0	0	147	0		1	0	0	0	0	1	0	160	655
PCDHA9	9752	broad.mit.edu	37	5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A	rs202136378		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000532602.1	+	1	2739	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CTGACACCTCGGATGAGGGGC	0.711																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1705-1707)cGg>cAg		protocadherin alpha 9							57.0	62.0	60.0					5																	140229786		2196	4267	6463	SO:0001583	missense	9752	5	120678	41				g.chr5:140229786G>A	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.1706G>A	chr5.hg19:g.140229786G>A	ENSP00000436042:p.Arg569Gln	0					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.R569Q	NM_031857.1	NP_114063.1	1	2	3	2.006602	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2739	+			O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	1	1	hg19	c.1706G>A	CCDS54920.1	1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655074	0.03480	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.63417	-0.04;-0.04	2.59	2.59	0.31030	2.59	2.59	0.31030	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.35885	0.0947	N	0.10782	0.045	0.09310	N	0.999995	B;D	0.54601	0.008;0.967	B;B	0.31946	0.004;0.138	T	0.07102	-1.0790	10	0.27785	T	0.31	.	12.4556	0.55702	0.0:0.0:1.0:0.0	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	569	ENSP00000436042:R569Q;ENSP00000367362:R569Q	ENSP00000367362:R569Q	R	+	2	0	0	PCDHA9	140209970	140209970	0.000000	0.05858	0.052000	0.19188	0.025000	0.11179	0.195000	0.17155	1.725000	0.51514	0.313000	0.20887	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1		2	2	2	0		0	0	130		130	126	1	2.060000	-2.909570	1	0.170000	NM_031857			130	130		602	600	1		1			0	0	130	0		1	0	0	0	0	0	0	130	602
PCDHA9	9752	broad.mit.edu	37	5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000532602.1	+	1	2861	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	610	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)			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)			GCTTTCATACGAGCTGCAGCC	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1828-1830)Gag>Aag		protocadherin alpha 9							61.0	67.0	65.0					5																	140229908		2196	4269	6465	SO:0001583	missense	9752	1	120748	32				g.chr5:140229908G>A	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.1828G>A	chr5.hg19:g.140229908G>A	ENSP00000436042:p.Glu610Lys	0					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.E610K	NM_031857.1	NP_114063.1	1	2	3	2.006602	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2861	+			O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	1	1	hg19	c.1828G>A	CCDS54920.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599753	0.46318	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.51	3.51	0.40186	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.61739	0.2371	L	0.60067	1.865	0.20074	N	0.999932	P;D	0.89917	0.945;1.0	P;D	0.80764	0.545;0.994	T	0.52403	-0.8580	10	0.87932	D	0	.	11.4541	0.50171	0.0:0.1816:0.8184:0.0	.	610;610	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	610	ENSP00000436042:E610K;ENSP00000367362:E610K	ENSP00000367362:E610K	E	+	1	0	0	PCDHA9	140210092	140210092	0.000000	0.05858	0.968000	0.41197	0.109000	0.19521	0.053000	0.14184	1.934000	0.56057	0.313000	0.20887	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.740280	1	0.170000	NM_031857			127	126		477	472	1		1	0		0	0	92	0		1	0	0	0	0	1	0	127	477
PCDHA10	56139	broad.mit.edu	37	5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	22					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)			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)			TCTCCTCGCAGCCTGGGAGGT	0.597																																						ENST00000307360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(64-66)Gcc>Tcc		protocadherin alpha 10							60.0	69.0	66.0					5																	140235697		2196	4273	6469	SO:0001583	missense	56139	0	0					g.chr5:140235697G>T	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.64G>T	chr5.hg19:g.140235697G>T	ENSP00000304234:p.Ala22Ser	0					PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.A22S	NM_018901.2	NP_061724.1	1	2	3	2.006602	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	64	+			A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	1	1	hg19	c.64G>T	CCDS54921.1	1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487865	0.04352	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54675	0.56;0.66	4.31	-2.66	0.06077	4.31	-2.66	0.06077	.	.	.	.	.	T	0.37544	0.1007	L	0.49513	1.565	0.09310	N	1	B;B;P	0.36789	0.272;0.023;0.57	B;B;B	0.33750	0.169;0.023;0.142	T	0.21075	-1.0256	9	0.21540	T	0.41	.	6.4531	0.21914	0.1416:0.0:0.3836:0.4747	.	22;22;22	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	22	ENSP00000421030:A22S;ENSP00000304234:A22S	ENSP00000304234:A22S	A	+	1	0	0	PCDHA10	140215881	140215881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.159000	0.10056	-0.740000	0.04803	-0.410000	0.06199	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_018901			113	112		475	468	1		1	0		0	0	113	0		1	1.705173e-01	0	0	0	4	0	113	475
PCDHA10	56139	broad.mit.edu	37	5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	335	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)			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)			TCACTGCACGGTCCTAGTGGA	0.418																																						ENST00000307360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1003-1005)Gtc>Atc		protocadherin alpha 10							147.0	138.0	141.0					5																	140236636		2196	4271	6467	SO:0001583	missense	56139	0	0					g.chr5:140236636G>A	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.1003G>A	chr5.hg19:g.140236636G>A	ENSP00000304234:p.Val335Ile	0					PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.V335I	NM_018901.2	NP_061724.1	1	2	3	2.006602	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1003	+			A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	1	1	hg19	c.1003G>A	CCDS54921.1	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812823	0.32053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59906	0.23;0.23	4.15	3.25	0.37280	4.15	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.51422	1.61	0.24712	N	0.993192	B;B;B	0.31256	0.316;0.237;0.146	B;B;B	0.41036	0.346;0.181;0.254	T	0.53563	-0.8421	9	0.37606	T	0.19	.	12.8103	0.57635	0.0:0.3147:0.6853:0.0	.	335;335;335	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	335	ENSP00000421030:V335I;ENSP00000304234:V335I	ENSP00000304234:V335I	V	+	1	0	0	PCDHA10	140216820	140216820	0.193000	0.23313	0.031000	0.17742	0.713000	0.41058	0.490000	0.22403	1.046000	0.40249	0.561000	0.74099	GTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_018901			112	111		448	442	1		1	1		0	0	92	0		1	8.012238e-01	0	2	0	12	0	112	448
PCDHA10	56139	broad.mit.edu	37	5	140237244	140237244	+	Silent	SNP	C	C	T	rs200404988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	537	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)	calcium ion binding (GO:0005509)			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)			TGAGCGCGCGCGATGGGGGCG	0.682																																						ENST00000307360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1609-1611)cgC>cgT		protocadherin alpha 10							53.0	57.0	55.0					5																	140237244		2196	4265	6461	SO:0001819	synonymous_variant	56139	0	0					g.chr5:140237244C>T	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.1611C>T	chr5.hg19:g.140237244C>T		0					PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.R537R	NM_018901.2	NP_061724.1	1	2	3	2.006602	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1611	+			A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	1	1	hg19	c.1611C>T	CCDS54921.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000	NM_018901			135	133		641	622	1		1	0		0	0	130	0		1	0	0	0	0	1	0	135	641
PCDHA10	56139	broad.mit.edu	37	5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	582					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)			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)			CTGGTGCTGCGGTCGGTGGTT	0.657																																						ENST00000307360.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1744-1746)cGg>cAg		protocadherin alpha 10							76.0	71.0	73.0					5																	140237378		1322	2290	3612	SO:0001583	missense	56139	3	120612	39				g.chr5:140237378G>A	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.1745G>A	chr5.hg19:g.140237378G>A	ENSP00000304234:p.Arg582Gln	0					PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.R582Q	NM_018901.2	NP_061724.1	1	2	3	2.006602	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1745	+			A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	1	1	hg19	c.1745G>A	CCDS54921.1	1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460291	0.12342	.	.	ENSG00000250120	ENST00000307360	T	0.37915	1.17	3.68	3.68	0.42216	3.68	3.68	0.42216	Cadherin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.39467	1.215	0.09310	N	1	P;B	0.40266	0.71;0.373	B;B	0.31495	0.131;0.089	T	0.14200	-1.0481	9	0.54805	T	0.06	.	9.7713	0.40591	0.0966:0.0:0.9034:0.0	.	582;582	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	582	ENSP00000304234:R582Q	ENSP00000304234:R582Q	R	+	2	0	0	PCDHA10	140217562	140217562	0.000000	0.05858	0.064000	0.19789	0.003000	0.03518	-0.028000	0.12350	2.041000	0.60428	0.491000	0.48974	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_018901			88	85		323	318	1		1	0		0	0	61	0		1	3.824470e-01	0	0	0	6	0	88	323
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	431	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622																																						ENST00000398640.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1291-1293)tcG>tcA		protocadherin alpha 11							134.0	143.0	140.0					5																	140249981		2203	4300	6503	SO:0001819	synonymous_variant	56138	0	0					g.chr5:140249981G>A	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.1293G>A	chr5.hg19:g.140249981G>A		0					PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.S431S	NM_018902.3	NP_061725.1	1	2	3	2.006602	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1293	+			B2RN58|O75279	Silent	SNP	ENST00000398640.2	1	1	hg19	c.1293G>A	CCDS47284.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	1	0	1		2	2	2	0		0	0	213		213	207	1	2.060000	-20.000000	1	0.170000	NM_018902			223	221		917	911	1		1			0	0	213	0		1	0	0	0	0	0	0	223	917
PCDHA12	56137	broad.mit.edu	37	5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	100	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)			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)			CGGGCGGAGCGCGGAGTGCAG	0.567																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2	1.000000	0.330000	5.300000e-01	3.900000e-01	0.450000	0.492086	0.450000	0.440000																										0				78						c.(298-300)Gcg>Acg		protocadherin alpha 12							115.0	131.0	126.0					5																	140255355		2203	4300	6503	SO:0001583	missense	56137	0	0					g.chr5:140255355G>A	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.298G>A	chr5.hg19:g.140255355G>A	ENSP00000381628:p.Ala100Thr	0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A100T	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	1	2	3	2.006602	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	298	+			O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	1	1	hg19	c.298G>A	CCDS47285.1	0	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085756	0.20390	.	.	ENSG00000251664	ENST00000398631	T	0.27104	1.69	5.28	-5.31	0.02730	5.28	-5.31	0.02730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	1	B;B	0.31026	0.078;0.304	B;B	0.15870	0.005;0.014	T	0.15407	-1.0438	9	0.36615	T	0.2	.	4.4904	0.11810	0.2499:0.3713:0.2996:0.0792	.	100;100	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	100	ENSP00000381628:A100T	ENSP00000381628:A100T	A	+	1	0	0	PCDHA12	140235539	140235539	0.000000	0.05858	0.012000	0.15200	0.765000	0.43378	-3.388000	0.00488	-0.988000	0.03489	-1.031000	0.02408	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	0	1		2	2	2	0		0	0	280		280	282	1	2.060000	-4.446638	1	0.170000	NM_018903			54	51		1381	1287	0		1	0		0	0	280	0		1	1.505330e-01	0	0	0	18	0	54	1381
PCDHA12	56137	broad.mit.edu	37	5	140256686	140256686	+	Silent	SNP	G	G	A	rs375706181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	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)			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)			CCGGCGTGCCGCCTCTGGGCA	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1627-1629)ccG>ccA		protocadherin alpha 12		G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	98.0	95.0		,,,1629,,,,,,,,,,,,1629	-4.8	0.3	5		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,,,,,,,,,,,	,,,543/942,,,,,,,,,,,,543/793	140256686	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	56137	2	120892	39				g.chr5:140256686G>A	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.1629G>A	chr5.hg19:g.140256686G>A		0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.P543P	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	1	2	3	2.006602	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1629	+			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	1	1	hg19	c.1629G>A	CCDS47285.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000	NM_018903			209	206		875	850	1		1	0		0	0	155	0		1	1.709935e-01	0	0	0	4	0	209	875
PCDHAC1	56135	broad.mit.edu	37	5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000253807.2	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	56	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)			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)			CGGAACTTTCGCTTCCTTTCC	0.647																																						ENST00000253807.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(166-168)cGc>cAc		protocadherin alpha subfamily C, 1							50.0	57.0	54.0					5																	140306644		2203	4300	6503	SO:0001583	missense	56135	0	0					g.chr5:140306644G>A	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.167G>A	chr5.hg19:g.140306644G>A	ENSP00000253807:p.Arg56His	0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R56H	NM_018898.3	NP_061721.2	1	2	3	2.006602	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	167	+			Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	1	1	hg19	c.167G>A	CCDS4241.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688480	0.88639	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38240	1.15;1.15	5.29	4.36	0.52297	5.29	4.36	0.52297	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55737	0.1939	M	0.77313	2.365	0.29161	N	0.877754	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.807	T	0.51957	-0.8639	9	0.48119	T	0.1	.	8.3053	0.32038	0.078:0.0:0.7657:0.1563	.	56;56	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	56	ENSP00000386356:R56H;ENSP00000253807:R56H	ENSP00000253807:R56H	R	+	2	0	0	PCDHAC1	140286828	140286828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.682000	0.61671	2.460000	0.83146	0.561000	0.74099	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_018898			41	40		174	171	1		1	1		0	0	37	0		1	3.289537e-01	0	5	0	1	0	41	174
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGTAGGCCGCATAGATGGG	0.632																																						ENST00000270349.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999711	0.990000	1.000000																										0				38						c.(1726-1728)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 3	Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)						70.0	61.0	64.0					5																	1403077		2203	4300	6503	SO:0001583	missense	6531	3	121408	29				g.chr5:1403077G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1727C>T	chr5.hg19:g.1403077G>A	ENSP00000270349:p.Ala576Val	0					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	p.A576V	NM_001044.4	NP_001035.1	0	0	0	1.967783	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)	13	1854	-			A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	1	1	hg19	c.1727C>T	CCDS3863.1	1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	0	SLC6A3	1456077	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-2.935628	1	0.170000	NM_001044			28	27		163	159	1		1			0	0	35	0		1	0	0	0	0	0	0	28	163
PCDHAC1	56135	broad.mit.edu	37	5	140307056	140307056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140307056C>T	ENST00000253807.2	+	1	579	c.579C>T	c.(577-579)cgC>cgT	p.R193R	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CACTGGATCGCGAACAGCGCG	0.612																																						ENST00000253807.2	1.000000	0.230000	6.000000e-01	3.200000e-01	0.430000	0.479051	0.430000	0.400000																										0				65						c.(577-579)cgC>cgT		protocadherin alpha subfamily C, 1							45.0	49.0	47.0					5																	140307056		2202	4300	6502	SO:0001819	synonymous_variant	56135	0	0					g.chr5:140307056C>T	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.579C>T	chr5.hg19:g.140307056C>T		0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R193R	NM_018898.3	NP_061721.2	1	2	3	2.006602	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	579	+			Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	0	1	hg19	c.579C>T	CCDS4241.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	0	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-13.077590	1	0.170000	NM_018898			13	13		359	356	0		1	1		0	0	66	0		9.995292e-01	4.421935e-02	0	3	0	6	0	13	359
PCDHAC1	56135	broad.mit.edu	37	5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000253807.2	+	1	1851	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	617	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)			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)			ATATAGGTGAGCTCCGTACTG	0.517																																						ENST00000253807.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1849-1851)gaG>gaT		protocadherin alpha subfamily C, 1							88.0	87.0	87.0					5																	140308328		2203	4300	6503	SO:0001583	missense	56135	0	0					g.chr5:140308328G>T	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.1851G>T	chr5.hg19:g.140308328G>T	ENSP00000253807:p.Glu617Asp	0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.E617D	NM_018898.3	NP_061721.2	1	2	3	2.006602	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1851	+			Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	1	1	hg19	c.1851G>T	CCDS4241.1	1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845520	0.32606	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.73;0.73	5.95	3.21	0.36854	5.95	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71108	0.3301	M	0.86097	2.795	0.25743	N	0.985136	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.64927	-0.6292	9	0.59425	D	0.04	.	13.826	0.63351	0.1851:0.0:0.8149:0.0	.	617;617	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	617	ENSP00000386356:E617D;ENSP00000253807:E617D	ENSP00000253807:E617D	E	+	3	2	2	PCDHAC1	140288512	140288512	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	1.002000	0.29796	0.139000	0.18822	-1.119000	0.02030	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_018898			86	86		384	376	1		1	0		0	0	75	0		1	8.656928e-01	0	0	0	18	0	86	384
PCDHB1	29930	broad.mit.edu	37	5	140431091	140431091	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431091G>A	ENST00000306549.3	+	1	113	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TGCAAAACAGGCAAGTGGGAT	0.493																																						ENST00000306549.3	1.000000	0.100000	4.200000e-01	1.700000e-01	0.260000	0.328563	0.260000	0.230000																										0				53						c.(34-36)agG>agA		protocadherin beta 1							73.0	75.0	75.0					5																	140431091		2203	4300	6503	SO:0001819	synonymous_variant	29930	0	0					g.chr5:140431091G>A	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.36G>A	chr5.hg19:g.140431091G>A		0						p.R12R	NM_013340.2	NP_037472.2	1	2	3	2.006602	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	113	+			Q2M257	Silent	SNP	ENST00000306549.3	0	1	hg19	c.36G>A	CCDS4243.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	0	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-6.652520	1	0.170000	NM_013340			6	5		288	281	0		1			0	0	55	0		9.623152e-01	0	0	0	0	0	0	6	288
PCDHB1	29930	broad.mit.edu	37	5	140431560	140431560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431560A>C	ENST00000306549.3	+	1	582	c.505A>C	c.(505-507)Aac>Cac	p.N169H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	169	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)			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)			CGGTCTCCAGAACTACACCCT	0.567																																						ENST00000306549.3	1.000000	0.090000	3.900000e-01	1.600000e-01	0.240000	0.308935	0.240000	0.230000																										0				53						c.(505-507)Aac>Cac		protocadherin beta 1							50.0	51.0	51.0					5																	140431560		2203	4300	6503	SO:0001583	missense	29930	0	0					g.chr5:140431560A>C	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.505A>C	chr5.hg19:g.140431560A>C	ENSP00000307234:p.Asn169His	0						p.N169H	NM_013340.2	NP_037472.2	1	2	3	2.006602	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	582	+			Q2M257	Missense_Mutation	SNP	ENST00000306549.3	0	1	hg19	c.505A>C	CCDS4243.1	0	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271842	0.40194	.	.	ENSG00000171815	ENST00000306549	T	0.51325	0.71	6.08	6.08	0.98989	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000086	T	0.46405	0.1391	M	0.61703	1.905	0.27636	N	0.947887	B	0.28128	0.201	B	0.27608	0.081	T	0.51608	-0.8684	10	0.66056	D	0.02	.	11.6893	0.51505	0.868:0.0:0.0:0.132	.	169	Q9Y5F3	PCDB1_HUMAN	H	169	ENSP00000307234:N169H	ENSP00000307234:N169H	N	+	1	0	0	PCDHB1	140411744	140411744	0.003000	0.15002	0.983000	0.44433	0.711000	0.40976	2.181000	0.42547	2.333000	0.79357	0.533000	0.62120	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	0	0	0		2	2	2	0		0	0	82		82	81	1	2.060000	-7.085948	1	0.170000	NM_013340			6	6		313	311	0		1			0	0	82	0		9.646738e-01	0	0	0	0	0	0	6	313
PCDHB1	29930	broad.mit.edu	37	5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	316	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)			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)			TGAAACATACGACATTGACAT	0.463																																						ENST00000306549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(946-948)Gac>Aac		protocadherin beta 1							116.0	113.0	114.0					5																	140432001		2203	4300	6503	SO:0001583	missense	29930	5	121412	40				g.chr5:140432001G>A	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.946G>A	chr5.hg19:g.140432001G>A	ENSP00000307234:p.Asp316Asn	0						p.D316N	NM_013340.2	NP_037472.2	1	2	3	2.006602	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1023	+			Q2M257	Missense_Mutation	SNP	ENST00000306549.3	1	1	hg19	c.946G>A	CCDS4243.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957179	0.53293	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	5.3	0.74995	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	D	0.000133	T	0.01222	0.0040	N	0.01522	-0.82	0.36095	D	0.843752	D	0.53151	0.958	P	0.46275	0.51	T	0.74569	-0.3622	10	0.33940	T	0.23	.	13.4394	0.61104	0.1218:0.0:0.8782:0.0	.	316	Q9Y5F3	PCDB1_HUMAN	N	316	ENSP00000307234:D316N	ENSP00000307234:D316N	D	+	1	0	0	PCDHB1	140412185	140412185	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_013340			81	81		409	402	1		1			0	0	108	0		1	0	0	0	0	0	0	81	409
PCDHB2	56133	broad.mit.edu	37	5	140475112	140475112	+	Silent	SNP	G	G	A	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	246					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)			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)			AGTTTGCAAAGCTGCTCTATG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15063	0.0		0.0	False		,,,				2504	0.0					ENST00000194155.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				71						c.(736-738)aaG>aaA		protocadherin beta 2		G		13,4393	20.2+/-43.8	0,13,2190	57.0	59.0	58.0		738	0.4	0.5	5	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PCDHB2	NM_018936.2		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		246/799	140475112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	56133	22	121412	45				g.chr5:140475112G>A	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.738G>A	chr5.hg19:g.140475112G>A		0						p.K246K	NM_018936.2	NP_061759.1	1	2	3	2.006602	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	886	+			Q4KMU1	Silent	SNP	ENST00000194155.4	1	1	hg19	c.738G>A	CCDS4244.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-4.802844	1	0.170000	NM_018936			47	46		252	248	1		1	0		0	0	58	0		1	2.467325e-01	0	0	0	6	0	47	252
PCDHB2	56133	broad.mit.edu	37	5	140475722	140475722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475722G>A	ENST00000194155.4	+	1	1496	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	450	Cadherin 4. {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)			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)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000194155.4	1.000000	0.600000	8.700000e-01	6.700000e-01	0.760000	0.778246	0.760000	0.750000																										0				71						c.(1348-1350)Gcc>Acc		protocadherin beta 2							126.0	118.0	120.0					5																	140475722		2203	4297	6500	SO:0001583	missense	56133	0	0					g.chr5:140475722G>A	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.1348G>A	chr5.hg19:g.140475722G>A	ENSP00000194155:p.Ala450Thr	0						p.A450T	NM_018936.2	NP_061759.1	1	2	3	2.006602	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1496	+			Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	0	1	hg19	c.1348G>A	CCDS4244.1	0	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681742	0.14907	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	5.11	0.557	0.17260	5.11	0.557	0.17260	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.05364	0.0142	M	0.85099	2.735	0.32974	D	0.522764	D	0.55605	0.972	B	0.34652	0.187	T	0.34875	-0.9811	9	0.56958	D	0.05	.	6.9348	0.24461	0.0811:0.5668:0.241:0.1111	.	450	Q9Y5E7	PCDB2_HUMAN	T	450	ENSP00000194155:A450T	ENSP00000194155:A450T	A	+	1	0	0	PCDHB2	140455906	140455906	0.000000	0.05858	0.973000	0.42090	0.005000	0.04900	-0.599000	0.05700	0.236000	0.21180	-1.066000	0.02275	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	0	0	0		2	2	2	0		0	0	288		288	365	1	2.060000	-3.318794	1	0.170000	NM_018936			78	67		1146	998	0		1	1		0	0	288	0		1	1.109318e-01	0	2	0	7	0	78	1146
PCDHB3	56132	broad.mit.edu	37	5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	20					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)			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)			TCTCTTTGTTTTTCTGGGAGG	0.507																																						ENST00000231130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(58-60)Ttt>Gtt		protocadherin beta 3							84.0	95.0	91.0					5																	140480291		2203	4300	6503	SO:0001583	missense	56132	0	0					g.chr5:140480291T>G	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.58T>G	chr5.hg19:g.140480291T>G	ENSP00000231130:p.Phe20Val	0					AC005754.7_ENST00000607216.1_RNA	p.F20V	NM_018937.2	NP_061760.1	1	2	3	2.006602	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	58	+			B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	1	1	hg19	c.58T>G	CCDS4245.1	1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979876	0.34942	.	.	ENSG00000113205	ENST00000231130	T	0.47869	0.83	4.77	0.509	0.16977	4.77	0.509	0.16977	.	.	.	.	.	T	0.32496	0.0831	L	0.37630	1.12	0.19300	N	0.999973	B	0.18461	0.028	B	0.12156	0.007	T	0.28299	-1.0048	9	0.56958	D	0.05	.	3.4948	0.07650	0.2739:0.2045:0.0:0.5217	.	20	Q9Y5E6	PCDB3_HUMAN	V	20	ENSP00000231130:F20V	ENSP00000231130:F20V	F	+	1	0	0	PCDHB3	140460475	140460475	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	0.186000	0.16978	0.243000	0.21327	-0.274000	0.10170	TTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_018937			75	74		281	270	1		1	0		0	0	45	0		1	7.536345e-01	0	1	0	11	0	75	281
PCDHB3	56132	broad.mit.edu	37	5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	234	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)			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)			CCAGGTCTTAGATATAAACGA	0.547																																						ENST00000231130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(700-702)Gat>Aat		protocadherin beta 3							47.0	50.0	49.0					5																	140480933		2203	4300	6503	SO:0001583	missense	56132	0	0					g.chr5:140480933G>A	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.700G>A	chr5.hg19:g.140480933G>A	ENSP00000231130:p.Asp234Asn	0					AC005754.7_ENST00000607216.1_RNA	p.D234N	NM_018937.2	NP_061760.1	1	2	3	2.006602	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	700	+			B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	1	1	hg19	c.700G>A	CCDS4245.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308185	0.81247	.	.	ENSG00000113205	ENST00000231130	T	0.74209	-0.82	4.93	4.93	0.64822	4.93	4.93	0.64822	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90242	0.6949	H	0.94264	3.515	0.50313	D	0.999865	D	0.89917	1.0	D	0.97110	1.0	D	0.93048	0.6463	9	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	234	Q9Y5E6	PCDB3_HUMAN	N	234	ENSP00000231130:D234N	ENSP00000231130:D234N	D	+	1	0	0	PCDHB3	140461117	140461117	1.000000	0.71417	0.800000	0.32199	0.536000	0.34869	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_018937			81	81		303	295	1		1	0		0	0	58	0		1	1.169557e-01	0	0	0	3	0	81	303
PCDHB3	56132	broad.mit.edu	37	5	140482389	140482389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	ENST00000231130.2	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	719					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)			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)			AGGAGCAGGGCGGCCTCGGTG	0.667																																						ENST00000231130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2155-2157)gCg>gTg		protocadherin beta 3							37.0	42.0	40.0					5																	140482389		2112	4096	6208	SO:0001583	missense	56132	0	0					g.chr5:140482389C>T	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.2156C>T	chr5.hg19:g.140482389C>T	ENSP00000231130:p.Ala719Val	0					AC005754.7_ENST00000607216.1_RNA	p.A719V	NM_018937.2	NP_061760.1	1	2	3	2.006602	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2156	+			B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	0	1	hg19	c.2156C>T	CCDS4245.1	1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771873	0.69992	.	.	ENSG00000113205	ENST00000231130	T	0.17528	2.27	4.16	1.83	0.25207	4.16	1.83	0.25207	.	.	.	.	.	T	0.31606	0.0802	M	0.87038	2.855	0.23346	N	0.997868	D	0.55800	0.973	P	0.49477	0.612	T	0.15607	-1.0431	9	0.72032	D	0.01	.	8.4355	0.32784	0.2265:0.6309:0.1425:0.0	.	719	Q9Y5E6	PCDB3_HUMAN	V	719	ENSP00000231130:A719V	ENSP00000231130:A719V	A	+	2	0	0	PCDHB3	140462573	140462573	0.614000	0.27017	0.089000	0.20774	0.145000	0.21501	1.032000	0.30178	0.826000	0.34661	0.485000	0.47835	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	1		11	2	2	1		1	1	174		174	246	1	2.060000	-20.000000	1	0.170000	NM_018937			190	127		924	538	0		1	0		1	0	174	0		1	0	0	0	0	1	0	190	924
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662																																						ENST00000194152.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1606-1608)Ggt>Agt		protocadherin beta 4							51.0	58.0	56.0					5																	140503186		2203	4297	6500	SO:0001583	missense	56131	0	0					g.chr5:140503186G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1606G>A	chr5.hg19:g.140503186G>A	ENSP00000194152:p.Gly536Ser	0					AC005754.8_ENST00000606030.1_lincRNA	p.G536S	NM_018938.2	NP_061761.1	1	2	3	2.006602	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1606	+			Q4V761	Missense_Mutation	SNP	ENST00000194152.1	1	1	hg19	c.1606G>A	CCDS4246.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	0	PCDHB4	140483370	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-3.220162	1	0.170000	NM_018938			127	122		561	553	0		1	0		0	0	125	0		1	6.794362e-01	0	0	0	12	0	127	561
PCDHB4	56131	broad.mit.edu	37	5	140503392	140503392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	ENST00000194152.1	+	1	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGTACCAGCTGCTCAAGG	0.716																																						ENST00000194152.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1810-1812)caG>caT		protocadherin beta 4							17.0	17.0	17.0					5																	140503392		2058	4070	6128	SO:0001583	missense	56131	0	0					g.chr5:140503392G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1812G>T	chr5.hg19:g.140503392G>T	ENSP00000194152:p.Gln604His	0						p.Q604H	NM_018938.2	NP_061761.1	1	2	3	2.006602	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1812	+			Q4V761	Missense_Mutation	SNP	ENST00000194152.1	0	1	hg19	c.1812G>T	CCDS4246.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206300	0.39003	.	.	ENSG00000081818	ENST00000194152	T	0.52983	0.64	4.01	4.01	0.46588	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40791	0.1131	N	0.05534	-0.03	0.32754	N	0.506063	D	0.57257	0.979	D	0.67382	0.951	T	0.50915	-0.8771	9	0.54805	T	0.06	.	3.1232	0.06398	0.098:0.1751:0.5458:0.1811	.	604	Q9Y5E5	PCDB4_HUMAN	H	604	ENSP00000194152:Q604H	ENSP00000194152:Q604H	Q	+	3	2	2	PCDHB4	140483576	140483576	0.009000	0.17119	1.000000	0.80357	0.994000	0.84299	-0.256000	0.08757	2.235000	0.73313	0.485000	0.47835	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	0	0	1		9	2	2	1		1	1	117		117	141	1	2.060000	-20.000000	1	0.170000	NM_018938			105	40		582	253	0		1			1	0	117	0		1	0	0	0	0	0	0	105	582
PCDHB4	56131	broad.mit.edu	37	5	140503686	140503686	+	Missense_Mutation	SNP	C	C	A	rs145434045	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503686C>A	ENST00000194152.1	+	1	2106	c.2106C>A	c.(2104-2106)ttC>ttA	p.F702L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCCTCTTCTCGGTGCTCC	0.706																																						ENST00000194152.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(2104-2106)ttC>ttA		protocadherin beta 4							70.0	81.0	78.0					5																	140503686		2189	4263	6452	SO:0001583	missense	56131	0	0					g.chr5:140503686C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2106C>A	chr5.hg19:g.140503686C>A	ENSP00000194152:p.Phe702Leu	0						p.F702L	NM_018938.2	NP_061761.1	1	2	3	2.006602	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2106	+			Q4V761	Missense_Mutation	SNP	ENST00000194152.1	1	0	hg19	c.2106C>A	CCDS4246.1	1	.	.	.	.	.	.	.	.	.	.	C	6.535	0.466958	0.12402	.	.	ENSG00000081818	ENST00000194152	T	0.07444	3.19	4.53	-2.89	0.05665	4.53	-2.89	0.05665	.	.	.	.	.	T	0.02807	0.0084	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45116	-0.9283	9	0.02654	T	1	.	7.5874	0.28002	0.0968:0.208:0.5636:0.1315	.	702	Q9Y5E5	PCDB4_HUMAN	L	702	ENSP00000194152:F702L	ENSP00000194152:F702L	F	+	3	2	2	PCDHB4	140483870	140483870	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-7.911000	0.00028	-0.736000	0.04831	-1.724000	0.00704	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	1	0	1		2	2	2	0		0	0	251		251	256	1	2.060000	-3.996406	1	0.170000	NM_018938			256	190		1135	992	0		1	0		0	0	251	0		1	3.066489e-01	0	0	0	6	0	256	1135
PCDHB5	26167	broad.mit.edu	37	5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	191	Cadherin 2. {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)			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)			GGCAGAAAATACCCAGAGCTG	0.552																																						ENST00000231134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(571-573)tAc>tGc		protocadherin beta 5							74.0	74.0	74.0					5																	140515588		2203	4300	6503	SO:0001583	missense	26167	0	0					g.chr5:140515588A>G	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.572A>G	chr5.hg19:g.140515588A>G	ENSP00000231134:p.Tyr191Cys	0						p.Y191C	NM_015669.2	NP_056484.1	1	2	3	2.006602	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	789	+			Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	1	1	hg19	c.572A>G	CCDS4247.1	1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813791	0.50527	.	.	ENSG00000113209	ENST00000231134	T	0.20598	2.06	5.18	3.93	0.45458	5.18	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55433	0.1920	H	0.95114	3.625	0.25307	N	0.989237	D	0.71674	0.998	D	0.72075	0.976	T	0.53208	-0.8471	9	0.87932	D	0	.	9.4626	0.38794	0.7278:0.0:0.0:0.2722	.	191	Q9Y5E4	PCDB5_HUMAN	C	191	ENSP00000231134:Y191C	ENSP00000231134:Y191C	Y	+	2	0	0	PCDHB5	140495772	140495772	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.136000	0.10405	2.086000	0.62901	0.454000	0.30748	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_015669			98	95		457	453	1		1	0		0	0	91	0		1	3.611536e-01	0	0	0	7	0	98	457
PCDHB5	26167	broad.mit.edu	37	5	140516480	140516480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TCACCTACTCGCTGCTGCCGC	0.647																																						ENST00000231134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1462-1464)tcG>tcA		protocadherin beta 5							101.0	101.0	101.0					5																	140516480		2203	4300	6503	SO:0001819	synonymous_variant	26167	0	0					g.chr5:140516480G>A	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.1464G>A	chr5.hg19:g.140516480G>A		0						p.S488S	NM_015669.2	NP_056484.1	1	2	3	2.006602	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1681	+			Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	1	1	hg19	c.1464G>A	CCDS4247.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	0		2	2	2	0		0	0	231		231	247	1	2.060000	-20.000000	1	0.170000	NM_015669			214	194		893	830	1		1	0		0	0	231	0		1	8.672114e-01	0	0	0	17	0	214	893
PCDHB5	26167	broad.mit.edu	37	5	140516822	140516822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	602	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.S602S(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)			CCTGGCTGTCGTACCAGCTGC	0.721																																						ENST00000231134.5	1.000000	0.280000	5.500000e-01	3.500000e-01	0.430000	0.478348	0.430000	0.420000																										1	Substitution - coding silent(1)	p.S602S(1)	endometrium(1)	81						c.(1804-1806)tcG>tcA		protocadherin beta 5							36.0	40.0	38.0					5																	140516822		2058	4034	6092	SO:0001819	synonymous_variant	26167	0	0					g.chr5:140516822G>A	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.1806G>A	chr5.hg19:g.140516822G>A		0						p.S602S	NM_015669.2	NP_056484.1	1	2	3	2.006602	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2023	+			Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	1	1	hg19	c.1806G>A	CCDS4247.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	0	1		17	2	2	0		0	1	108		108	138	1	2.060000	-3.216221	1	0.170000	NM_015669			26	22		699	632	0		1			0	0	108	0		8.859865e-01	0	0	0	0	0	0	26	699
PCDHB5	26167	broad.mit.edu	37	5	140517107	140517107	+	Silent	SNP	G	G	A	rs61745780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	697					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			CCTCGGTGTCGTCGCTCTTCC	0.706																																						ENST00000231134.5	1.000000	0.320000	5.300000e-01	3.700000e-01	0.440000	0.483759	0.440000	0.440000																										0				81						c.(2089-2091)tcG>tcA		protocadherin beta 5																																				SO:0001819	synonymous_variant	26167	0	0					g.chr5:140517107G>A	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.2091G>A	chr5.hg19:g.140517107G>A		0						p.S697S	NM_015669.2	NP_056484.1	1	2	3	2.006602	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2308	+			Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	1	1	hg19	c.2091G>A	CCDS4247.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	0	1		2	2	2	0		0	0	211		211	212	1	2.060000	-3.731835	1	0.170000	NM_015669			47	46		1230	1202	0		1			0	0	211	0		1	0	0	0	0	0	0	47	1230
PCDHB5	26167	broad.mit.edu	37	5	140517233	140517233	+	Silent	SNP	C	C	T	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	739					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			TGGACGTGAGCGGCACCGGGA	0.642																																						ENST00000231134.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(2215-2217)agC>agT		protocadherin beta 5		C		0,4406		0,0,2203	88.0	107.0	101.0		2217	0.0	0.1	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PCDHB5	NM_015669.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		739/796	140517233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26167	2	121410	40				g.chr5:140517233C>T	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.2217C>T	chr5.hg19:g.140517233C>T		0						p.S739S	NM_015669.2	NP_056484.1	1	2	3	2.006602	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2434	+			Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	1	1	hg19	c.2217C>T	CCDS4247.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	1		2	2	2	0		0	0	233		233	230	1	2.060000	-20.000000	1	0.170000	NM_015669			204	196		1107	1091	1		1	0		0	0	233	0		1	1.177068e-01	0	1	0	3	0	204	1107
PCDHB6	56130	broad.mit.edu	37	5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	393	Cadherin 4. {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)			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)			CTACTAAGACCTTCCGTGGAG	0.468																																						ENST00000231136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1177-1179)cCt>cAt		protocadherin beta 6							121.0	123.0	122.0					5																	140531016		2203	4300	6503	SO:0001583	missense	56130	0	0					g.chr5:140531016C>A	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.1178C>A	chr5.hg19:g.140531016C>A	ENSP00000231136:p.Pro393His	0					PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	p.P393H	NM_018939.2	NP_061762.1	1	2	3	2.006602	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1178	+			B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	1	1	hg19	c.1178C>A	CCDS4248.1	1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942553	0.18281	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01725	4.67;4.67	4.59	2.65	0.31530	4.59	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12774	0.0310	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05666	-1.0871	9	0.87932	D	0	.	6.5296	0.22320	0.1459:0.6952:0.0:0.159	.	393	Q9Y5E3	PCDB6_HUMAN	H	257;393;178	ENSP00000438466:P257H;ENSP00000231136:P393H	ENSP00000231136:P393H	P	+	2	0	0	PCDHB6	140511200	140511200	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	1.053000	0.40415	-0.219000	0.12488	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	NM_018939			151	151		674	665	1		1	0		0	0	156	0		1	8.926925e-02	0	0	0	3	0	151	674
PCDHB6	56130	broad.mit.edu	37	5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	679					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)			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)			CCCGGCCCAAGCCCAGGCCGA	0.697																																						ENST00000231136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(2035-2037)Gcc>Tcc		protocadherin beta 6							67.0	73.0	71.0					5																	140531873		2189	4274	6463	SO:0001583	missense	56130	0	0					g.chr5:140531873G>T	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.2035G>T	chr5.hg19:g.140531873G>T	ENSP00000231136:p.Ala679Ser	0					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	p.A679S	NM_018939.2	NP_061762.1	1	2	3	2.006602	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2035	+			B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	1	1	hg19	c.2035G>T	CCDS4248.1	1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837250	0.16891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.69	4.55	1.51	0.23008	4.55	1.51	0.23008	.	.	.	.	.	T	0.37999	0.1024	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.42832	-0.9428	9	0.66056	D	0.02	.	1.634	0.02738	0.2053:0.1642:0.4627:0.1677	.	679	Q9Y5E3	PCDB6_HUMAN	S	543;679	ENSP00000438466:A543S;ENSP00000231136:A679S	ENSP00000231136:A679S	A	+	1	0	0	PCDHB6	140512057	140512057	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.139000	0.16036	0.397000	0.25310	0.556000	0.70494	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1		2	2	2	0		0	0	182		182	178	1	2.060000	-20.000000	1	0.170000	NM_018939			190	184		860	837	1		1	0		0	0	182	0		1	3.310476e-02	0	0	0	2	0	190	860
PCDHB7	56129	broad.mit.edu	37	5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	321	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)			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)			ACTATTCAGGCCAAAGACGGC	0.423																																						ENST00000231137.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(961-963)gCc>gTc		protocadherin beta 7							63.0	67.0	66.0					5																	140553378		2203	4300	6503	SO:0001583	missense	56129	0	0					g.chr5:140553378C>T	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.962C>T	chr5.hg19:g.140553378C>T	ENSP00000231137:p.Ala321Val	0						p.A321V	NM_018940.2	NP_061763.1	1	2	3	2.006602	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1136	+			A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	1	1	hg19	c.962C>T	CCDS4249.1	1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165954	0.57476	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.73363	-0.74	4.61	3.66	0.41972	4.61	3.66	0.41972	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.84306	0.5443	M	0.73217	2.22	0.43214	D	0.995083	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	9	0.87932	D	0	.	14.0288	0.64601	0.0:0.8476:0.1524:0.0	.	321	Q9Y5E2	PCDB7_HUMAN	V	321;104	ENSP00000231137:A321V	ENSP00000231137:A321V	A	+	2	0	0	PCDHB7	140533562	140533562	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.882000	0.63121	2.244000	0.73946	0.650000	0.86243	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_018940			73	73		309	304	1		1	0		0	0	75	0		1	6.981055e-01	0	1	0	11	0	73	309
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	493	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)			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)			TGCTGCCGTCCCAGGACCCGC	0.667																																						ENST00000231137.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(1477-1479)tcC>tcT		protocadherin beta 7							94.0	94.0	94.0					5																	140553895		2203	4300	6503	SO:0001819	synonymous_variant	56129	0	0					g.chr5:140553895C>T	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.1479C>T	chr5.hg19:g.140553895C>T		0						p.S493S	NM_018940.2	NP_061763.1	1	2	3	2.006602	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1653	+			A1L3Y8	Silent	SNP	ENST00000231137.3	1	1	hg19	c.1479C>T	CCDS4249.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1		2	2	2	0		0	0	182		182	181	1	2.060000	-3.322506	1	0.170000	NM_018940			144	136		715	691	1		1	0		0	0	182	0		1	6.230969e-01	0	1	0	11	0	144	715
PCDHB7	56129	broad.mit.edu	37	5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	554	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)			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)			GGTGCTGGACGCCAACGACAA	0.726																																						ENST00000231137.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(1660-1662)Gcc>Acc		protocadherin beta 7																																				SO:0001583	missense	56129	1	120346	34				g.chr5:140554076G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1660G>A	chr5.hg19:g.140554076G>A	ENSP00000231137:p.Ala554Thr	0						p.A554T	NM_018940.2	NP_061763.1	1	2	3	2.006602	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1834	+			A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	1	1	hg19	c.1660G>A	CCDS4249.1	1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.793689	0.31685	.	.	ENSG00000113212	ENST00000231137	T	0.03181	4.02	4.3	3.38	0.38709	4.3	3.38	0.38709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.12527	0.23	0.23661	N	0.997171	B	0.25850	0.136	B	0.21546	0.035	T	0.45220	-0.9276	9	0.40728	T	0.16	.	12.4687	0.55775	0.0:0.3241:0.6759:0.0	.	554	Q9Y5E2	PCDB7_HUMAN	T	554	ENSP00000231137:A554T	ENSP00000231137:A554T	A	+	1	0	0	PCDHB7	140534260	140534260	0.000000	0.05858	0.769000	0.31535	0.934000	0.57294	0.692000	0.25482	0.853000	0.35312	0.449000	0.29647	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	0		2	2	2	0		0	0	99		99	100	1	2.060000	-20.000000	1	0.170000	NM_018940			108	90		490	414	0		1			0	0	99	0		1	0	0	0	0	0	0	108	490
PCDHB7	56129	broad.mit.edu	37	5	140554408	140554408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	664	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)			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)			TCCTGGTGGACGGCTTCTCCC	0.706																																						ENST00000231137.3	1.000000	0.800000	1	8.900000e-01	0.990000	0.960315	0.990000	1.000000																										0				119						c.(1990-1992)gaC>gaT		protocadherin beta 7							40.0	64.0	56.0					5																	140554408		2178	4273	6451	SO:0001819	synonymous_variant	56129	2	121146	38				g.chr5:140554408C>T	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.1992C>T	chr5.hg19:g.140554408C>T		0					PCDHB8_ENST00000239444.2_5'Flank	p.D664D	NM_018940.2	NP_061763.1	1	2	3	2.006602	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2166	+			A1L3Y8	Silent	SNP	ENST00000231137.3	1	1	hg19	c.1992C>T	CCDS4249.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	0	1		18	2	2	0		0	1	217		217	217	1	2.060000	-19.987380	1	0.170000	NM_018940			97	90		1068	995	0		1	0		0	0	217	0		1	0	0	0	0	1	0	97	1068
PCDHB7	56129	broad.mit.edu	37	5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507																																						ENST00000231137.3	1.000000	0.890000	1	9.800000e-01	0.990000	0.990403	0.990000	1.000000																										0				119						c.(2290-2292)tTt>tAt		protocadherin beta 7							83.0	123.0	109.0					5																	140554707		2203	4300	6503	SO:0001583	missense	56129	0	0					g.chr5:140554707T>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2291T>A	chr5.hg19:g.140554707T>A	ENSP00000231137:p.Phe764Tyr	0					PCDHB8_ENST00000239444.2_5'Flank	p.F764Y	NM_018940.2	NP_061763.1	1	2	3	2.006602	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2465	+			A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	1	1	hg19	c.2291T>A	CCDS4249.1	1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314917	0.40996	.	.	ENSG00000113212	ENST00000231137	T	0.19105	2.17	4.33	3.14	0.36123	4.33	3.14	0.36123	.	.	.	.	.	T	0.44498	0.1296	M	0.87900	2.915	0.35724	D	0.817379	D	0.63046	0.992	P	0.60415	0.874	T	0.61491	-0.7052	9	0.72032	D	0.01	.	10.0259	0.42070	0.0:0.0873:0.0:0.9127	.	764	Q9Y5E2	PCDB7_HUMAN	Y	764	ENSP00000231137:F764Y	ENSP00000231137:F764Y	F	+	2	0	0	PCDHB7	140534891	140534891	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	5.748000	0.68697	1.711000	0.51337	0.374000	0.22700	TTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	0		2	2	2	0		0	0	158		158	155	1	2.060000	-20.000000	1	0.170000	NM_018940			92	91		907	896	0		1	1	0	0	0	158	1		1	4.756320e-01	0	3	0	14	1	92	907
PCDHB8	56128	broad.mit.edu	37	5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	269	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433																																						ENST00000239444.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.997966	0.990000	1.000000																										0				83						c.(805-807)Gat>Aat		protocadherin beta 8							190.0	256.0	233.0					5																	140558420		2203	4300	6503	SO:0001583	missense	56128	0	0					g.chr5:140558420G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.805G>A	chr5.hg19:g.140558420G>A	ENSP00000239444:p.Asp269Asn	0					PCDHB16_ENST00000361016.2_5'Flank	p.D269N	NM_019120.3	NP_061993.2	1	2	3	2.006602	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1050	+			B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	1	1	hg19	c.805G>A	CCDS4250.1	1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416301	0.42918	.	.	ENSG00000120322	ENST00000239444	T	0.74526	-0.85	4.25	4.25	0.50352	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91566	0.7336	H	0.98351	4.21	0.36061	D	0.841464	D	0.89917	1.0	D	0.97110	1.0	D	0.97214	0.9873	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	269	Q9UN66	PCDB8_HUMAN	N	269	ENSP00000239444:D269N	ENSP00000239444:D269N	D	+	1	0	0	PCDHB8	140538604	140538604	1.000000	0.71417	0.065000	0.19835	0.105000	0.19272	9.768000	0.98965	1.911000	0.55334	0.585000	0.79938	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	1		2	2	2	0		0	0	354		354	364	1	2.060000	-20.000000	1	0.170000	NM_019120			167	164		1601	1570	0		1	0		0	0	354	0		1	0	0	0	0	1	0	167	1601
PCDHB8	56128	broad.mit.edu	37	5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	439	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567																																						ENST00000239444.2	1.000000	0.900000	1	9.700000e-01	0.990000	0.990902	0.990000	1.000000																										0				83						c.(1315-1317)aCc>aTc		protocadherin beta 8							197.0	246.0	230.0					5																	140558931		2203	4300	6503	SO:0001583	missense	56128	0	0					g.chr5:140558931C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1316C>T	chr5.hg19:g.140558931C>T	ENSP00000239444:p.Thr439Ile	0					PCDHB16_ENST00000361016.2_5'Flank	p.T439I	NM_019120.3	NP_061993.2	1	2	3	2.006602	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1561	+			B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	1	1	hg19	c.1316C>T	CCDS4250.1	1	.	.	.	.	.	.	.	.	.	.	C	3.226	-0.158381	0.06544	.	.	ENSG00000120322	ENST00000239444	T	0.03358	3.96	4.26	3.39	0.38822	4.26	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.64630	1.985	0.09310	N	1	B	0.24618	0.107	B	0.36922	0.236	T	0.36359	-0.9751	9	0.56958	D	0.05	.	4.0224	0.09672	0.1624:0.5888:0.158:0.0907	.	439	Q9UN66	PCDB8_HUMAN	I	439	ENSP00000239444:T439I	ENSP00000239444:T439I	T	+	2	0	0	PCDHB8	140539115	140539115	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-1.353000	0.02617	0.778000	0.33520	0.305000	0.20034	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	1		17	2	2	1		1	1	408		408	405	1	2.060000	-20.000000	1	0.170000	NM_019120			171	166		1750	1712	0		1	0		1	0	408	0		1	9.413214e-02	0	0	0	6	0	171	1750
PCDHB8	56128	broad.mit.edu	37	5	140559326	140559326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	ENST00000239444.2	+	1	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGGCTCCGCGCCCTGCAC	0.716																																						ENST00000239444.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999488	0.990000	1.000000																										0				83						c.(1711-1713)Gcg>Acg		protocadherin beta 8							12.0	21.0	18.0					5																	140559326		2174	4257	6431	SO:0001583	missense	56128	0	0					g.chr5:140559326G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1711G>A	chr5.hg19:g.140559326G>A	ENSP00000239444:p.Ala571Thr	0					PCDHB16_ENST00000361016.2_5'Flank	p.A571T	NM_019120.3	NP_061993.2	1	2	3	2.006602	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1956	+			B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	0	1	hg19	c.1711G>A	CCDS4250.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558443	0.27827	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.2	0.27929	4.22	2.2	0.27929	Cadherin-like (1);	.	.	.	.	T	0.42607	0.1210	N	0.21324	0.655	0.09310	N	1	B	0.30211	0.273	B	0.31751	0.135	T	0.38824	-0.9643	9	0.66056	D	0.02	.	8.146	0.31113	0.0:0.1345:0.4702:0.3953	.	571	Q9UN66	PCDB8_HUMAN	T	571	ENSP00000239444:A571T	ENSP00000239444:A571T	A	+	1	0	0	PCDHB8	140539510	140539510	0.000000	0.05858	0.557000	0.28306	0.601000	0.36947	-0.187000	0.09656	0.735000	0.32537	0.298000	0.19748	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	1		2	2	2	0		0	0	121		121	237	1	2.060000	-1.329789	0	0.170000	NM_019120			77	35		635	327	0		1			0	0	121	0		1	0	0	0	0	0	0	77	635
PCDHB8	56128	broad.mit.edu	37	5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T	rs200922876		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	669	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682																																						ENST00000239444.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2005-2007)caG>caT		protocadherin beta 8							44.0	45.0	44.0					5																	140559622		2180	4257	6437	SO:0001583	missense	56128	0	0					g.chr5:140559622G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2007G>T	chr5.hg19:g.140559622G>T	ENSP00000239444:p.Gln669His	0					PCDHB16_ENST00000361016.2_5'Flank	p.Q669H	NM_019120.3	NP_061993.2	1	2	3	2.006602	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2252	+			B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	1	1	hg19	c.2007G>T	CCDS4250.1	1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144642	0.21288	.	.	ENSG00000120322	ENST00000239444	T	0.48836	0.8	4.22	2.2	0.27929	4.22	2.2	0.27929	Cadherin (2);	.	.	.	.	T	0.44953	0.1318	M	0.67700	2.07	0.26343	N	0.977333	P	0.40731	0.728	B	0.41764	0.366	T	0.47471	-0.9115	9	0.87932	D	0	.	4.5376	0.12042	0.0925:0.2229:0.5509:0.1337	.	669	Q9UN66	PCDB8_HUMAN	H	669	ENSP00000239444:Q669H	ENSP00000239444:Q669H	Q	+	3	2	2	PCDHB8	140539806	140539806	0.000000	0.05858	1.000000	0.80357	0.347000	0.29111	-0.034000	0.12225	1.915000	0.55452	0.298000	0.19748	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-20.000000	1	0.170000	NM_019120			127	125		527	504	1		1	0		0	0	127	0		1	1.733799e-01	0	1	0	3	0	127	527
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	ENST00000239446.4	+	1	1514	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	444	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)			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)			GGTCTCCGACGTCAATGACAA	0.587																																						ENST00000239446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1330-1332)Gtc>Atc		protocadherin beta 10							70.0	68.0	68.0					5																	140573455		2203	4293	6496	SO:0001583	missense	56126	0	0					g.chr5:140573455G>A	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.1330G>A	chr5.hg19:g.140573455G>A	ENSP00000239446:p.Val444Ile	0						p.V444I	NM_018930.3	NP_061753.1	1	2	3	2.006602	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1514	+			Q96T99	Missense_Mutation	SNP	ENST00000239446.4	1	1	hg19	c.1330G>A	CCDS4252.1	1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310575	0.10733	.	.	ENSG00000120324	ENST00000239446	T	0.01258	5.09	3.22	0.279	0.15677	3.22	0.279	0.15677	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00967	0.0032	N	0.20445	0.575	0.23468	N	0.997613	B	0.21905	0.062	B	0.18263	0.021	T	0.46470	-0.9189	9	0.06099	T	0.92	.	8.2294	0.31589	0.3138:0.0:0.6862:0.0	.	444	Q9UN67	PCDBA_HUMAN	I	444	ENSP00000239446:V444I	ENSP00000239446:V444I	V	+	1	0	0	PCDHB10	140553639	140553639	0.090000	0.21635	0.999000	0.59377	0.858000	0.48976	0.358000	0.20216	0.194000	0.20326	-0.274000	0.10170	GTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0		2	2	2	0		0	0	150		150	215	1	2.060000	-20.000000	1	0.170000	NM_018930			141	115		501	300	0		1	0		0	0	150	0		1	5.540509e-01	0	1	0	7	0	141	501
PCDHB10	56126	broad.mit.edu	37	5	140573467	140573467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	ENST00000239446.4	+	1	1526	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	448	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)			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)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000239446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1342-1344)Gcc>Acc		protocadherin beta 10							61.0	60.0	61.0					5																	140573467		2203	4292	6495	SO:0001583	missense	56126	0	0					g.chr5:140573467G>A	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.1342G>A	chr5.hg19:g.140573467G>A	ENSP00000239446:p.Ala448Thr	0						p.A448T	NM_018930.3	NP_061753.1	1	2	3	2.006602	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1526	+			Q96T99	Missense_Mutation	SNP	ENST00000239446.4	0	1	hg19	c.1342G>A	CCDS4252.1	1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971885	0.34754	.	.	ENSG00000120324	ENST00000239446	T	0.03181	4.02	3.22	2.23	0.28157	3.22	2.23	0.28157	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06962	0.0177	M	0.84433	2.695	0.35283	D	0.781521	B	0.27823	0.19	B	0.21917	0.037	T	0.03453	-1.1035	9	0.56958	D	0.05	.	7.6598	0.28396	0.0:0.2886:0.5556:0.1558	.	448	Q9UN67	PCDBA_HUMAN	T	448	ENSP00000239446:A448T	ENSP00000239446:A448T	A	+	1	0	0	PCDHB10	140553651	140553651	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	-0.562000	0.05950	1.819000	0.53055	0.549000	0.68633	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0		2	2	2	0		0	0	167		167	245	1	2.060000	-20.000000	1	0.170000	NM_018930			107	45		608	390	0		1	1		0	0	167	0		1	3.427055e-01	0	2	0	6	0	107	608
PCDHB10	56126	broad.mit.edu	37	5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	643	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)			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)			GCTCGTGGTGCTTGTCAAGGA	0.692																																						ENST00000239446.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(1927-1929)Ctt>Att		protocadherin beta 10							23.0	24.0	23.0					5																	140574052		2049	3906	5955	SO:0001583	missense	56126	1	116748	28				g.chr5:140574052C>A	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.1927C>A	chr5.hg19:g.140574052C>A	ENSP00000239446:p.Leu643Ile	0						p.L643I	NM_018930.3	NP_061753.1	1	2	3	2.006602	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2111	+			Q96T99	Missense_Mutation	SNP	ENST00000239446.4	1	1	hg19	c.1927C>A	CCDS4252.1	1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139023	0.21205	.	.	ENSG00000120324	ENST00000239446	T	0.59638	0.25	3.03	2.14	0.27477	3.03	2.14	0.27477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.50847	1.595	0.09310	N	1	P	0.39480	0.675	P	0.46585	0.521	T	0.51639	-0.8680	9	0.62326	D	0.03	.	1.7846	0.03039	0.1832:0.4151:0.2742:0.1275	.	643	Q9UN67	PCDBA_HUMAN	I	643	ENSP00000239446:L643I	ENSP00000239446:L643I	L	+	1	0	0	PCDHB10	140554236	140554236	0.000000	0.05858	0.997000	0.53966	0.145000	0.21501	-1.908000	0.01587	1.704000	0.51252	0.298000	0.19748	CTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0		15	2	2	0		0	1	53		53	58	1	2.060000	-20.000000	1	0.170000	NM_018930			96	94		165	157	0		1			0	0	53	0		1	0	0	0	0	0	0	96	165
PCDHB12	56124	broad.mit.edu	37	5	140590474	140590474	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	ENST00000239450.2	+	1	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_ENST00000541609.1_Silent_p.G328G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	665	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)			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)			TGGTGGACGGCTTCTCCCAGC	0.706																																						ENST00000239450.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(1993-1995)ggC>ggA		protocadherin beta 12							32.0	36.0	35.0					5																	140590474		2169	4238	6407	SO:0001819	synonymous_variant	56124	0	0					g.chr5:140590474C>A	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.1995C>A	chr5.hg19:g.140590474C>A		0					PCDHB12_ENST00000541609.1_Silent_p.G328G	p.G665G	NM_018932.3	NP_061755.1	1	2	3	2.006602	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2184	+			B4DDU1	Silent	SNP	ENST00000239450.2	1	1	hg19	c.1995C>A	CCDS4254.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	0	0	1		2	2	2	0		0	0	86		86	141	1	2.060000	-20.000000	1	0.170000	NM_018932			135	124		586	536	0		1		1	0	0	86	13		1	0	9.233727e-01	0	3	0	18	135	586
PLEKHG4B	153478	broad.mit.edu	37	5	140602	140602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	ENST00000283426.6	+	1	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	60							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		GTCTAGAGAAGGAGAGGCACA	0.662																																						ENST00000283426.6			0	0																														0				11						c.(178-180)aaG>aaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							16.0	20.0	19.0					5																	140602		2164	4273	6437	SO:0001583	missense	153478	0	0					g.chr5:140602G>T	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.180G>T	chr5.hg19:g.140602G>T	ENSP00000283426:p.Lys60Asn						CTD-2231H16.1_ENST00000512035.1_lincRNA	p.K60N	NM_052909.3	NP_443141.3					Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	1	230	+				Missense_Mutation	SNP	ENST00000283426.6	0	1	hg19	c.180G>T	CCDS34124.1		.	.	.	.	.	.	.	.	.	.	.	9.374	1.071343	0.20147	.	.	ENSG00000153404	ENST00000283426	T	0.25250	1.81	2.04	2.04	0.26737	2.04	2.04	0.26737	.	.	.	.	.	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.13602	-1.0503	9	0.05525	T	0.97	.	7.3479	0.26674	0.0:0.0:1.0:0.0	.	60	Q96PX9	PKH4B_HUMAN	N	60	ENSP00000283426:K60N	ENSP00000283426:K60N	K	+	3	2	2	PLEKHG4B	193602	193602	0.040000	0.19996	0.069000	0.20011	0.158000	0.22134	-0.328000	0.07945	0.613000	0.30089	0.298000	0.19748	AAG			TCGA-IB-7651-01A-11D-2154-08	0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-10.269880	1	0.170000	NM_052909			5	5		54	52	0		1			0	0	13	0		9.346736e-01	0	0	0	0	0	0	5	54
PCDHB12	56124	broad.mit.edu	37	5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	738					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)			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)			CATCTGGTGGACGTGAGTGGC	0.602																																						ENST00000239450.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2212-2214)gAc>gGc		protocadherin beta 12							70.0	75.0	74.0					5																	140590692		2203	4300	6503	SO:0001583	missense	56124	0	0					g.chr5:140590692A>G	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.2213A>G	chr5.hg19:g.140590692A>G	ENSP00000239450:p.Asp738Gly	0					PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	p.D738G	NM_018932.3	NP_061755.1	1	2	3	2.006602	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2402	+			B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	1	1	hg19	c.2213A>G	CCDS4254.1	1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047246	0.36085	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.77	3.4	2.21	0.28008	3.4	2.21	0.28008	.	.	.	.	.	T	0.43144	0.1234	M	0.70595	2.14	0.25453	N	0.987989	B	0.27679	0.185	B	0.32342	0.144	T	0.36744	-0.9735	9	0.17369	T	0.5	.	5.5502	0.17086	0.7279:0.1719:0.1002:0.0	.	738	Q9Y5F1	PCDBC_HUMAN	G	401;738;358	ENSP00000440199:D401G;ENSP00000239450:D738G	ENSP00000239450:D738G	D	+	2	0	0	PCDHB12	140570876	140570876	0.997000	0.39634	0.218000	0.23776	0.116000	0.19942	3.553000	0.53713	0.344000	0.23847	0.392000	0.25879	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000	NM_018932			146	144		762	754	1		1	1	1	0	0	145	410		1	4.389245e-01	1	2	117	7	395	146	762
PCDHB14	56122	broad.mit.edu	37	5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(166-168)gTg>gCg		protocadherin beta 14							86.0	89.0	88.0					5																	140603244		2203	4300	6503	SO:0001583	missense	56122	0	0					g.chr5:140603244T>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.167T>C	chr5.hg19:g.140603244T>C	ENSP00000239449:p.Val56Ala	0					PCDHB14_ENST00000515856.2_Intron	p.V56A	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	167	+			B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	1	1	hg19	c.167T>C	CCDS4256.1	1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237733	0.22711	.	.	ENSG00000120327	ENST00000239449	T	0.29655	1.56	4.93	4.93	0.64822	4.93	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.07809	-1.0753	9	0.20046	T	0.44	.	10.1776	0.42948	0.0:0.0814:0.0:0.9186	.	56	Q9Y5E9	PCDBE_HUMAN	A	56	ENSP00000239449:V56A	ENSP00000239449:V56A	V	+	2	0	0	PCDHB14	140583428	140583428	0.042000	0.20092	0.216000	0.23742	0.715000	0.41141	1.765000	0.38481	1.974000	0.57490	0.533000	0.62120	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.913646	1	0.170000	NM_018934			74	69		286	278	1		1	1		0	0	70	0		1	8.843607e-01	0	3	0	14	0	74	286
PCDHB14	56122	broad.mit.edu	37	5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	138	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(412-414)Ata>Cta		protocadherin beta 14							67.0	73.0	71.0					5																	140603489		2198	4300	6498	SO:0001583	missense	56122	0	0					g.chr5:140603489A>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.412A>C	chr5.hg19:g.140603489A>C	ENSP00000239449:p.Ile138Leu	0					PCDHB14_ENST00000515856.2_5'UTR	p.I138L	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	412	+			B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	1	1	hg19	c.412A>C	CCDS4256.1	1	.	.	.	.	.	.	.	.	.	.	-	15.54	2.863918	0.51482	.	.	ENSG00000120327	ENST00000239449	T	0.19532	2.14	4.92	3.73	0.42828	4.92	3.73	0.42828	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.48830	D	0.999719	B	0.13145	0.007	B	0.12837	0.008	T	0.10451	-1.0629	9	0.15952	T	0.53	.	3.0982	0.06317	0.6325:0.1471:0.0792:0.1412	.	138	Q9Y5E9	PCDBE_HUMAN	L	138	ENSP00000239449:I138L	ENSP00000239449:I138L	I	+	1	0	0	PCDHB14	140583673	140583673	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	-0.073000	0.11468	0.797000	0.33971	0.528000	0.53228	ATA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_018934			135	131		524	514	1		1	1		0	0	101	0		1	9.855869e-01	0	5	0	23	0	135	524
PCDHB14	56122	broad.mit.edu	37	5	140604406	140604406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	443	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1327-1329)gaC>gaT		protocadherin beta 14							155.0	148.0	150.0					5																	140604406		2203	4300	6503	SO:0001819	synonymous_variant	56122	0	0					g.chr5:140604406C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1329C>T	chr5.hg19:g.140604406C>T		0					PCDHB14_ENST00000515856.2_Silent_p.D290D	p.D443D	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1329	+			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	1	1	hg19	c.1329C>T	CCDS4256.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1		2	2	2	0		0	0	257		257	261	1	2.060000	-20.000000	1	0.170000	NM_018934			261	250		959	940	1		1	1		0	0	257	0		1	9.929346e-01	0	5	0	25	0	261	959
PCDHB14	56122	broad.mit.edu	37	5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	525	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.997555	0.990000	1.000000																										0				49						c.(1573-1575)caG>caT		protocadherin beta 14							79.0	85.0	83.0					5																	140604652		2203	4300	6503	SO:0001583	missense	56122	0	0					g.chr5:140604652G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1575G>T	chr5.hg19:g.140604652G>T	ENSP00000239449:p.Gln525His	0					PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	p.Q525H	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1575	+			B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	1	1	hg19	c.1575G>T	CCDS4256.1	1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234204	0.39498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	-5.01	0.02991	4.15	-5.01	0.02991	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.81802	2.56	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.00356	-1.1793	9	0.66056	D	0.02	.	9.7535	0.40490	0.1936:0.4883:0.3181:0.0	.	525	Q9Y5E9	PCDBE_HUMAN	H	372;525	ENSP00000444518:Q372H;ENSP00000239449:Q525H	ENSP00000239449:Q525H	Q	+	3	2	2	PCDHB14	140584836	140584836	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-2.831000	0.00743	-1.095000	0.03050	0.556000	0.70494	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	0		2	2	2	0		0	0	168		168	168	1	2.060000	-3.017764	1	0.170000	NM_018934			82	81		738	728	0		1	1		0	0	168	0		1	5.824833e-01	0	2	0	17	0	82	738
PCDHB14	56122	broad.mit.edu	37	5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	548	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995304	0.990000	1.000000																										0				49						c.(1642-1644)Cgc>Tgc		protocadherin beta 14							36.0	40.0	39.0					5																	140604719		2202	4297	6499	SO:0001583	missense	56122	0	0					g.chr5:140604719C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1642C>T	chr5.hg19:g.140604719C>T	ENSP00000239449:p.Arg548Cys	0					PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	p.R548C	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1642	+			B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	1	1	hg19	c.1642C>T	CCDS4256.1	1	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581771	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	4.15	0.48705	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09862	0.0242	M	0.81802	2.56	0.40766	D	0.983045	D	0.89917	1.0	D	0.85130	0.997	T	0.00565	-1.1668	9	0.87932	D	0	.	11.7144	0.51643	0.1769:0.8231:0.0:0.0	.	548	Q9Y5E9	PCDBE_HUMAN	C	395;548	ENSP00000444518:R395C;ENSP00000239449:R548C	ENSP00000239449:R548C	R	+	1	0	0	PCDHB14	140584903	140584903	0.005000	0.15991	1.000000	0.80357	0.992000	0.81027	0.383000	0.20651	2.048000	0.60808	0.556000	0.70494	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	0		2	2	2	0		0	0	88		88	117	1	2.060000	-20.000000	1	0.170000	NM_018934			51	46		449	431	0		1	0		0	0	88	0		1	1.091459e-02	0	0	0	2	0	51	449
PCDHB14	56122	broad.mit.edu	37	5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1933-1935)aaG>aaT		protocadherin beta 14							12.0	14.0	14.0					5																	140605012		1766	3717	5483	SO:0001583	missense	56122	0	0					g.chr5:140605012G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1935G>T	chr5.hg19:g.140605012G>T	ENSP00000239449:p.Lys645Asn	0					PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	p.K645N	NM_018934.2	NP_061757.1	1	2	3	2.006602	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1935	+			B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	1	1	hg19	c.1935G>T	CCDS4256.1	1	.	.	.	.	.	.	.	.	.	.	-	10.38	1.335100	0.24253	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53640	0.61;0.61	3.9	2.99	0.34606	3.9	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61426	0.2346	M	0.70787	2.145	0.26717	N	0.970869	D	0.53745	0.962	P	0.61658	0.892	T	0.51888	-0.8648	9	0.87932	D	0	.	8.0146	0.30374	0.0925:0.1633:0.7443:0.0	.	645	Q9Y5E9	PCDBE_HUMAN	N	492;645	ENSP00000444518:K492N;ENSP00000239449:K645N	ENSP00000239449:K645N	K	+	3	2	2	PCDHB14	140585196	140585196	0.013000	0.17824	0.933000	0.37362	0.221000	0.24807	0.095000	0.15127	0.707000	0.31934	0.650000	0.86243	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1		2	2	2	0		0	0	82		82	117	1	2.060000	-20.000000	1	0.170000	NM_018934			107	60		332	225	0		1			0	0	82	0		1	0	0	0	0	0	0	107	332
PCDHB15	56121	broad.mit.edu	37	5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	16					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)			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)			CAAGTCCTGATTCTCCTTCTT	0.532																																						ENST00000231173.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(46-48)aTt>aCt		protocadherin beta 15							67.0	73.0	71.0					5																	140625193		2203	4300	6503	SO:0001583	missense	56121	0	0					g.chr5:140625193T>C	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.47T>C	chr5.hg19:g.140625193T>C	ENSP00000231173:p.Ile16Thr	0						p.I16T	NM_018935.2	NP_061758.1	1	2	3	2.006602	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	47	+			Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	1	1	hg19	c.47T>C	CCDS4257.1	1	.	.	.	.	.	.	.	.	.	.	T	9.688	1.151235	0.21371	.	.	ENSG00000113248	ENST00000231173	T	0.49720	0.77	4.6	4.6	0.57074	4.6	4.6	0.57074	.	.	.	.	.	T	0.48677	0.1513	M	0.68728	2.09	0.25000	N	0.991476	B	0.10296	0.003	B	0.09377	0.004	T	0.46359	-0.9197	9	0.59425	D	0.04	.	13.643	0.62263	0.0:0.0:0.0:1.0	.	16	Q9Y5E8	PCDBF_HUMAN	T	16	ENSP00000231173:I16T	ENSP00000231173:I16T	I	+	2	0	0	PCDHB15	140605377	140605377	0.000000	0.05858	0.988000	0.46212	0.534000	0.34807	0.286000	0.18902	2.022000	0.59522	0.402000	0.26972	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_018935			80	77		247	243	1		1	0		0	0	48	0		1	6.206356e-01	0	0	0	8	0	80	247
PCDHB15	56121	broad.mit.edu	37	5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	671	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)			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)			TCAGCCCTACCTGCCGCTCCC	0.667																																						ENST00000231173.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.992943	0.990000	1.000000																										0				61						c.(2011-2013)Ctg>Atg		protocadherin beta 15							53.0	58.0	56.0					5																	140627157		2195	4276	6471	SO:0001583	missense	56121	0	0					g.chr5:140627157C>A	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.2011C>A	chr5.hg19:g.140627157C>A	ENSP00000231173:p.Leu671Met	0						p.L671M	NM_018935.2	NP_061758.1	1	2	3	2.006602	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2011	+			Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	1	1	hg19	c.2011C>A	CCDS4257.1	1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058930	0.36277	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.58	2.62	0.31277	4.58	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.52885	0.1762	L	0.58583	1.82	0.28329	N	0.921895	D	0.58970	0.984	P	0.55667	0.781	T	0.46345	-0.9198	9	0.59425	D	0.04	.	5.9376	0.19175	0.0:0.6574:0.1841:0.1585	.	671	Q9Y5E8	PCDBF_HUMAN	M	671	ENSP00000231173:L671M	ENSP00000231173:L671M	L	+	1	2	2	PCDHB15	140607341	140607341	0.184000	0.23200	0.998000	0.56505	0.505000	0.33919	-0.072000	0.11486	2.293000	0.77203	0.549000	0.68633	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	1		2	2	2	0		0	0	128		128	119	1	2.060000	-19.994100	1	0.170000	NM_018935			80	78		764	746	0		1	0		0	0	128	0		1	4.602039e-01	0	0	0	16	0	80	764
PCDHB15	56121	broad.mit.edu	37	5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	774					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)			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)			TTCCCAAATATTGTAAGCCAG	0.443																																						ENST00000231173.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(2320-2322)aTt>aGt		protocadherin beta 15							84.0	93.0	90.0					5																	140627467		2203	4300	6503	SO:0001583	missense	56121	0	0					g.chr5:140627467T>G	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.2321T>G	chr5.hg19:g.140627467T>G	ENSP00000231173:p.Ile774Ser	0						p.I774S	NM_018935.2	NP_061758.1	1	2	3	2.006602	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2321	+			Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	1	1	hg19	c.2321T>G	CCDS4257.1	1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862678	0.17178	.	.	ENSG00000113248	ENST00000231173	T	0.13657	2.57	4.39	0.331	0.15933	4.39	0.331	0.15933	.	.	.	.	.	T	0.10895	0.0266	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31251	-0.9950	9	0.49607	T	0.09	.	3.6539	0.08213	0.1313:0.0786:0.1362:0.6539	.	774	Q9Y5E8	PCDBF_HUMAN	S	774	ENSP00000231173:I774S	ENSP00000231173:I774S	I	+	2	0	0	PCDHB15	140607651	140607651	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.505000	0.22642	0.154000	0.19237	0.454000	0.30748	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-20.000000	1	0.170000	NM_018935			163	162		613	600	1		1	0		0	0	105	0		1	7.059941e-01	0	0	0	11	0	163	613
SLC25A2	83884	broad.mit.edu	37	5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	149					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488																																						ENST00000239451.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(445-447)aGc>aAc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						97.0	102.0	101.0					5																	140682987		2203	4300	6503	SO:0001583	missense	83884	0	0					g.chr5:140682987C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.446G>A	chr5.hg19:g.140682987C>T	ENSP00000239451:p.Ser149Asn	0						p.S149N	NM_031947.2	NP_114153.1	1	2	3	2.006602	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	625	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	1	1	hg19	c.446G>A	CCDS4258.1	1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.075023	0.20227	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	2.91	0.33838	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.514389	0.22545	N	0.058679	T	0.68550	0.3013	L	0.47716	1.5	0.21527	N	0.999656	B	0.20368	0.044	B	0.23018	0.043	T	0.56183	-0.8021	10	0.28530	T	0.3	-21.2554	9.8762	0.41205	0.0:0.8956:0.0:0.1044	.	149	Q9BXI2	ORNT2_HUMAN	N	149	ENSP00000239451:S149N	ENSP00000239451:S149N	S	-	2	0	0	SLC25A2	140663171	140663171	1.000000	0.71417	0.005000	0.12908	0.759000	0.43091	6.595000	0.74109	1.181000	0.42912	0.650000	0.86243	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	1	0	0		16	2	2	0		0	1	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_031947			111	111		543	534	1		1			0	0	149	0		1	0	0	0	0	0	0	111	543
PCDHGA2	56113	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	170	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)			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)			TTCAGAAGTACGCACTCAACC	0.537																																						ENST00000394576.2	1.000000	0.780000	1	9.100000e-01	0.990000	0.968504	0.990000	1.000000																										0				77						c.(508-510)taC>taT		protocadherin gamma subfamily A, 2							94.0	91.0	92.0					5																	140719048		2203	4300	6503	SO:0001819	synonymous_variant	56113	1	121412	31				g.chr5:140719048C>T	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.510C>T	chr5.hg19:g.140719048C>T		0					PCDHGA1_ENST00000517417.1_Intron	p.Y170Y	NM_018915.2	NP_061738.1	1	2	3	2.006602	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	510	+			Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	1	1	hg19	c.510C>T	CCDS47289.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-13.356990	1	0.170000	NM_018915			45	44		464	457	0		1	0		0	0	122	0		1	2.306940e-02	0	0	0	3	0	45	464
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	331	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.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433																																						ENST00000394576.2	1.000000	0.360000	6.100000e-01	4.300000e-01	0.500000	0.544457	0.500000	0.500000																										2	Substitution - Missense(2)	p.A331V(2)	large_intestine(2)	77						c.(991-993)gCg>gTg		protocadherin gamma subfamily A, 2							149.0	153.0	152.0					5																	140719530		2203	4300	6503	SO:0001583	missense	56113	1	121412	30				g.chr5:140719530C>T	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.992C>T	chr5.hg19:g.140719530C>T	ENSP00000378077:p.Ala331Val	0					PCDHGA1_ENST00000517417.1_Intron	p.A331V	NM_018915.2	NP_061738.1	1	2	3	2.006602	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	992	+			Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	1	1	hg19	c.992C>T	CCDS47289.1	0	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	0	PCDHGA2	140699714	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	1		17	2	2	1		1	1	203		203	204	1	2.060000	-4.228338	1	0.170000	NM_018915			41	41		931	916	0		1	0		1	0	203	0		9.995478e-01	1.901753e-03	0	0	0	2	0	41	931
PCDHGA2	56113	broad.mit.edu	37	5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	rs149474643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	380	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)			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)			TGGGCAGAACGCATTCACCAC	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		19350	0.0		0.001	False		,,,				2504	0.0					ENST00000394576.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1138-1140)Gca>Aca		protocadherin gamma subfamily A, 2							81.0	83.0	82.0					5																	140719676		2203	4300	6503	SO:0001583	missense	56113	10	121412	43				g.chr5:140719676G>A	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.1138G>A	chr5.hg19:g.140719676G>A	ENSP00000378077:p.Ala380Thr	0					PCDHGA1_ENST00000517417.1_Intron	p.A380T	NM_018915.2	NP_061738.1	1	2	3	2.006602	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1138	+			Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	1	1	hg19	c.1138G>A	CCDS47289.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.25	3.069835	0.55539	.	.	ENSG00000081853	ENST00000394576	T	0.01838	4.61	4.9	4.9	0.64082	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.182113	0.25427	U	0.030741	T	0.05318	0.0141	N	0.16567	0.415	0.36952	D	0.892929	D;D	0.65815	0.995;0.986	P;P	0.59357	0.856;0.804	T	0.53592	-0.8417	10	0.87932	D	0	.	18.0539	0.89358	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	380	ENSP00000378077:A380T	ENSP00000378077:A380T	A	+	1	0	0	PCDHGA2	140699860	140699860	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	5.407000	0.66363	2.434000	0.82447	0.462000	0.41574	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.146952	1	0.170000	NM_018915			73	72		392	388	1		1	0		0	0	114	0		1	1.214661e-01	0	0	0	4	0	73	392
PCDHGA2	56113	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A	rs374361232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	686					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CATACCCAACGATTCGGACCT	0.682																																						ENST00000394576.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2056-2058)Gat>Aat		protocadherin gamma subfamily A, 2		G	,ASN/ASP,ASN/ASP	1,4405		0,1,2202	106.0	112.0	110.0		,2056,2056	3.2	0.0	5		110	0,8596		0,0,4298	no	intron,missense,missense	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,23,23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	,686/933,686/824	140720594	1,13001	2203	4298	6501	SO:0001583	missense	56113	2	121412	39				g.chr5:140720594G>A	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.2056G>A	chr5.hg19:g.140720594G>A	ENSP00000378077:p.Asp686Asn	0					PCDHGA1_ENST00000517417.1_Intron	p.D686N	NM_018915.2	NP_061738.1	1	2	3	2.006602	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2056	+			Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	1	1	hg19	c.2056G>A	CCDS47289.1	1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156808	0.21454	2.27E-4	0.0	ENSG00000081853	ENST00000394576	T	0.48201	0.82	5.05	3.24	0.37175	5.05	3.24	0.37175	.	0.543864	0.14979	U	0.287378	T	0.32496	0.0831	L	0.39326	1.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.15484	0.013;0.004	T	0.20773	-1.0265	10	0.30078	T	0.28	.	2.4419	0.04497	0.1658:0.1505:0.5281:0.1556	.	686;686	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	686	ENSP00000378077:D686N	ENSP00000378077:D686N	D	+	1	0	0	PCDHGA2	140700778	140700778	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.852000	0.39348	0.641000	0.30601	-0.515000	0.04445	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	0	0		17	2	2	1		1	1	214		214	206	1	2.060000	-20.000000	1	0.170000	NM_018915			197	186		878	815	1		1	0		1	0	214	0		1	8.907845e-02	0	0	0	3	0	197	878
PCDHGA3	56112	broad.mit.edu	37	5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	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	196	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542																																						ENST00000253812.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(586-588)Ctg>Atg		protocadherin gamma subfamily A, 3							59.0	62.0	61.0					5																	140724186		2081	4227	6308	SO:0001583	missense	56112	0	0					g.chr5:140724186C>A	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.586C>A	chr5.hg19:g.140724186C>A	ENSP00000253812:p.Leu196Met	0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L196M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	1	2	3	2.006602	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	586	+			Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	1	1	hg19	c.586C>A	CCDS47290.1	1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513160	0.27123	.	.	ENSG00000254245	ENST00000253812	T	0.24723	1.84	5.65	2.92	0.33932	5.65	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.000000	0.27379	U	0.019626	T	0.63094	0.2482	H	0.98314	4.2	0.21950	N	0.999452	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59968	-0.7354	10	0.87932	D	0	.	8.1665	0.31230	0.0:0.6332:0.0:0.3668	.	196;196	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	196	ENSP00000253812:L196M	ENSP00000253812:L196M	L	+	1	2	2	PCDHGA3	140704370	140704370	0.076000	0.21285	1.000000	0.80357	0.364000	0.29643	0.158000	0.16422	0.874000	0.35823	-0.136000	0.14681	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_018916			80	80		371	357	1		1	0		0	0	80	0		1	1.498995e-01	0	0	0	4	0	80	371
PCDHGA3	56112	broad.mit.edu	37	5	140724569	140724569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	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	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACAGGATGGACCAGGTC	0.388																																						ENST00000253812.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(967-969)gaT>gaC		protocadherin gamma subfamily A, 3							71.0	72.0	72.0					5																	140724569		1988	4217	6205	SO:0001819	synonymous_variant	56112	1	120982	31				g.chr5:140724569T>C	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.969T>C	chr5.hg19:g.140724569T>C		0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D323D	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	1	2	3	2.006602	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	969	+			Q9Y5D4	Silent	SNP	ENST00000253812.6	1	1	hg19	c.969T>C	CCDS47290.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_018916			71	70		274	266	1		1	0		0	0	67	0		1	1.121194e-01	0	0	0	3	0	71	274
PCDHGA3	56112	broad.mit.edu	37	5	140724707	140724707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	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	369	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.I369I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCTTATCGACGTGCATG	0.438																																						ENST00000253812.6	1.000000	0.770000	1	9.100000e-01	0.990000	0.969418	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I369I(1)	endometrium(1)	1						c.(1105-1107)atC>atT		protocadherin gamma subfamily A, 3							116.0	119.0	118.0					5																	140724707		1991	4188	6179	SO:0001819	synonymous_variant	56112	0	0					g.chr5:140724707C>T	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.1107C>T	chr5.hg19:g.140724707C>T		0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.I369I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	1	2	3	2.006602	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1107	+			Q9Y5D4	Silent	SNP	ENST00000253812.6	1	1	hg19	c.1107C>T	CCDS47290.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-11.537500	1	0.170000	NM_018916			38	38		385	378	0		1	0		0	0	114	0		1	8.576046e-03	0	0	0	2	0	38	385
PCDHGB1	56104	broad.mit.edu	37	5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A	rs201293239	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	175	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)			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)			ATCAATACTTCTCTCTGTCAA	0.443																																						ENST00000523390.1	1.000000	0.880000	1	9.700000e-01	0.990000	0.987695	0.990000	1.000000																										0				16						c.(523-525)ttC>ttA		protocadherin gamma subfamily B, 1							196.0	191.0	193.0					5																	140730352		1880	4114	5994	SO:0001583	missense	56104	0	0					g.chr5:140730352C>A	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.525C>A	chr5.hg19:g.140730352C>A	ENSP00000429273:p.Phe175Leu	0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.F175L	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	1	2	3	2.006602	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	525	+			Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	1	1	hg19	c.525C>A	CCDS54923.1	1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.564044	0.65651	.	.	ENSG00000254221	ENST00000523390	T	0.70749	-0.51	5.36	3.49	0.39957	5.36	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88559	0.6469	H	0.97214	3.96	0.28420	N	0.917755	D;D	0.89917	1.0;0.984	D;D	0.80764	0.994;0.923	T	0.82263	-0.0544	9	0.87932	D	0	.	10.6944	0.45890	0.0:0.8366:0.0:0.1634	.	175;175	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	175	ENSP00000429273:F175L	ENSP00000429273:F175L	F	+	3	2	2	PCDHGB1	140710536	140710536	0.000000	0.05858	0.989000	0.46669	0.934000	0.57294	-0.549000	0.06041	1.324000	0.45282	0.563000	0.77884	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1		2	2	2	0		0	0	235		235	231	1	2.060000	-19.999990	1	0.170000	NM_018922			104	104		1051	1035	0		1	0		0	0	235	0		1	0	0	0	0	1	0	104	1051
PCDHGB1	56104	broad.mit.edu	37	5	140731024	140731024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	399	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)			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)			ATTATTACAAGCTGGTGATTG	0.478																																						ENST00000523390.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				16						c.(1195-1197)aaG>aaA		protocadherin gamma subfamily B, 1							55.0	59.0	58.0					5																	140731024		1976	4159	6135	SO:0001819	synonymous_variant	56104	0	0					g.chr5:140731024G>A	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.1197G>A	chr5.hg19:g.140731024G>A		0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.K399K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	1	2	3	2.006602	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1197	+			Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	1	1	hg19	c.1197G>A	CCDS54923.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_018922			26	25		108	106	1		1	0		0	0	25	0		1	1.807594e-01	0	0	0	4	0	26	108
PCDHGB1	56104	broad.mit.edu	37	5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	537	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.A537T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCCCCGCGCTCAGCGC	0.711																																						ENST00000523390.1	1.000000	0.850000	1	9.800000e-01	0.990000	0.986431	0.990000	1.000000																										2	Substitution - Missense(2)	p.A537T(2)	prostate(2)	16						c.(1609-1611)Gcg>Acg		protocadherin gamma subfamily B, 1							39.0	48.0	45.0					5																	140731436		2112	4229	6341	SO:0001583	missense	56104	0	0					g.chr5:140731436G>A	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.1609G>A	chr5.hg19:g.140731436G>A	ENSP00000429273:p.Ala537Thr	0					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A537T	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	1	2	3	2.006602	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1609	+			Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	0	1	hg19	c.1609G>A	CCDS54923.1	1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042731	0.36085	.	.	ENSG00000254221	ENST00000523390	T	0.52295	0.67	5.39	1.16	0.20824	5.39	1.16	0.20824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33000	0.0848	L	0.28274	0.84	0.23361	N	0.997831	B;B	0.34241	0.444;0.205	B;B	0.38458	0.18;0.274	T	0.25745	-1.0123	9	0.51188	T	0.08	.	3.9761	0.09475	0.1431:0.3148:0.4298:0.1123	.	537;537	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	537	ENSP00000429273:A537T	ENSP00000429273:A537T	A	+	1	0	0	PCDHGB1	140711620	140711620	0.000000	0.05858	0.969000	0.41365	0.748000	0.42578	-0.363000	0.07593	0.294000	0.22547	0.563000	0.77884	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1		21	2	2	1		1	1	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_018922			51	50		489	484	1		1			1	0	80	0		9.999217e-01	0	0	0	0	0	0	51	489
PCDHGA4	56111	broad.mit.edu	37	5	140735709	140735709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	314	Cadherin 3. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438																																						ENST00000571252.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(940-942)ttC>ttT		protocadherin gamma subfamily A, 4							51.0	50.0	50.0					5																	140735709		1853	4103	5956	SO:0001819	synonymous_variant	56111	0	0					g.chr5:140735709C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.942C>T	chr5.hg19:g.140735709C>T		0					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.F314F	NM_018917.2	NP_061740	1	2	3	2.006602	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	942	+			Q9Y5D3	Silent	SNP	ENST00000571252.1	1	1	hg19	c.942C>T	CCDS58979.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_018917			29	28		88	87	1		1	0		0	0	28	0		1	1.609313e-01	0	0	0	3	0	29	88
PCDHGB2	56103	broad.mit.edu	37	5	140741634	140741634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	ENST00000522605.1	+	1	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	644	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)			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)			GCCTGCTGGTCGCTGTGCGTG	0.687																																						ENST00000522605.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				14						c.(1930-1932)gtC>gtT		protocadherin gamma subfamily B, 2							16.0	19.0	18.0					5																	140741634		1906	4113	6019	SO:0001819	synonymous_variant	56103	0	0					g.chr5:140741634C>T	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.1932C>T	chr5.hg19:g.140741634C>T		0					PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V644V	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	1	2	3	2.006602	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1932	+			Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	0	1	hg19	c.1932C>T	CCDS54924.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	0	0	1		2	2	2	0		0	0	30		30	49	1	2.060000	-20.000000	1	0.170000	NM_018923			33	30		162	147	0		1			0	0	30	0		1	0	0	0	0	0	0	33	162
PCDHGA5	56110	broad.mit.edu	37	5	140746123	140746123	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACTTTGTGGGCGTGGATGGGG	0.627																																						ENST00000518069.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(2224-2226)ggC>ggT		protocadherin gamma subfamily A, 5							80.0	90.0	86.0					5																	140746123		2203	4300	6503	SO:0001819	synonymous_variant	56110	0	0					g.chr5:140746123C>T	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.2226C>T	chr5.hg19:g.140746123C>T		0					PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G742G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	1	2	3	2.006602	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2226	+			Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	1	1	hg19	c.2226C>T	CCDS54925.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	1	0	1		2	2	2	0		0	0	155		155	152	1	2.060000	-3.914945	1	0.170000	NM_018918			169	167		640	623	1		1	0		0	0	155	0		1	3.675606e-01	0	0	0	6	0	169	640
PCDHGB3	56102	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T	rs200368368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCGCGCGGAGCGGGGT	0.667																																						ENST00000576222.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1528-1530)Cgg>Tgg		protocadherin gamma subfamily B, 3		C	,,,,,,,TRP/ARG,TRP/ARG	0,4154		0,0,2077	49.0	53.0	52.0		,,,,,,,1528,1528	2.9	0.1	5		52	2,8448		0,2,4223	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,101,101	0,2,6300	TT,TC,CC		0.0237,0.0,0.0159	,,,,,,,,	,,,,,,,510/930,510/815	140751489	2,12602	2077	4225	6302	SO:0001583	missense	56102	27	121046	47				g.chr5:140751489C>T	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.1528C>T	chr5.hg19:g.140751489C>T	ENSP00000461862:p.Arg510Trp	0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	p.R510W	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	1	2	3	2.006602	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1659	+			A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	1	1	hg19	c.1528C>T	CCDS58980.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	1	0	1		2	2	2	0		0	0	95		95	92	1	2.060000	-3.574129	1	0.170000	NM_018924			94	91		399	394	1		1	0		0	0	95	0		1	3.699617e-02	0	0	0	2	0	94	399
PCDHGA6	56109	broad.mit.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428																																						ENST00000517434.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(982-984)Cga>Tga		protocadherin gamma subfamily A, 6							150.0	156.0	154.0					5																	140754632		1875	4098	5973	SO:0001587	stop_gained	56109	0	0					g.chr5:140754632C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.982C>T	chr5.hg19:g.140754632C>T	ENSP00000429601:p.Arg328*	0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R328*	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	1	2	3	2.006602	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	982	+			A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	0	1	hg19	c.982C>T	CCDS54926.1	1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	2	PCDHGA6	140734816	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1		2	2	2	0		0	0	187		187	187	1	2.060000	-20.000000	1	0.170000	NM_018919			127	127		665	655	1		1	0		0	0	187	0		1	3.149104e-01	0	0	0	7	0	127	665
PCDHGA6	56109	broad.mit.edu	37	5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	433	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCTGTCTACAGAAACA	0.463																																						ENST00000517434.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1297-1299)tCt>tTt		protocadherin gamma subfamily A, 6							115.0	124.0	121.0					5																	140754948		2115	4254	6369	SO:0001583	missense	56109	0	0					g.chr5:140754948C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1298C>T	chr5.hg19:g.140754948C>T	ENSP00000429601:p.Ser433Phe	0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S433F	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	1	2	3	2.006602	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1298	+			A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	1	1	hg19	c.1298C>T	CCDS54926.1	1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110886	0.37242	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	5.25	5.25	0.73442	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.31145	U	0.008180	T	0.79293	0.4421	M	0.92738	3.34	0.32337	N	0.56034	P;D	0.56746	0.906;0.977	P;D	0.67231	0.66;0.95	D	0.84431	0.0577	10	0.59425	D	0.04	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;433	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	433	ENSP00000429601:S433F	ENSP00000429601:S433F	S	+	2	0	0	PCDHGA6	140735132	140735132	0.719000	0.27986	0.909000	0.35828	0.004000	0.04260	1.771000	0.38542	2.885000	0.99019	0.655000	0.94253	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-20.000000	1	0.170000	NM_018919			124	118		488	474	1		1	0		0	0	150	0		1	4.326308e-01	0	0	0	7	0	124	488
PCDHGA6	56109	broad.mit.edu	37	5	140755255	140755255	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	535	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCAGCGACAGCGGGG	0.597																																						ENST00000517434.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1603-1605)agC>agT		protocadherin gamma subfamily A, 6							100.0	120.0	113.0					5																	140755255		2192	4299	6491	SO:0001819	synonymous_variant	56109	0	0					g.chr5:140755255C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1605C>T	chr5.hg19:g.140755255C>T		0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S535S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	1	2	3	2.006602	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1605	+			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	1	1	hg19	c.1605C>T	CCDS54926.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1		2	2	2	0		0	0	205		205	202	1	2.060000	-20.000000	1	0.170000	NM_018919			225	221		915	900	0		1	0		0	0	205	0		1	1.773230e-01	0	0	0	4	0	225	915
PCDHGA7	56108	broad.mit.edu	37	5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	618	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)			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)			GGACTCTTTGCGGTTGGGCTG	0.642																																						ENST00000518325.1	1.000000	0.410000	8.000000e-01	5.100000e-01	0.630000	0.661313	0.630000	0.610000																										0				49						c.(1852-1854)gCg>gTg		protocadherin gamma subfamily A, 7							48.0	56.0	53.0					5																	140764319		2203	4300	6503	SO:0001583	missense	56108	0	0					g.chr5:140764319C>T	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.1853C>T	chr5.hg19:g.140764319C>T	ENSP00000430024:p.Ala618Val	0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A618V	NM_018920.2	NP_061743.1	1	2	3	2.006602	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1853	+			B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	1	1	hg19	c.1853C>T	CCDS54927.1	0	.	.	.	.	.	.	.	.	.	.	.	3.265	-0.150381	0.06585	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	0.145	0.14829	5.01	0.145	0.14829	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28134	0.0694	N	0.17278	0.47	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.19391	0.025;0.005	T	0.24190	-1.0167	9	0.72032	D	0.01	.	4.0537	0.09806	0.2449:0.4047:0.0:0.3505	.	618;618	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	618	ENSP00000430024:A618V	ENSP00000430024:A618V	A	+	2	0	0	PCDHGA7	140744503	140744503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.477000	0.00985	-0.210000	0.10140	-0.123000	0.14984	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	1	0	1		2	2	2	0		0	0	108		108	98	1	2.060000	-3.221883	1	0.170000	NM_018920			24	24		436	418	0		1	0		0	0	108	0		9.999995e-01	8.762510e-03	0	0	0	3	0	24	436
PCDHGA8	9708	broad.mit.edu	37	5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	95	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)			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)			TCGGGAGGAGCTCTGCGCTCA	0.517																																						ENST00000398604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(283-285)Ctc>Atc		protocadherin gamma subfamily A, 8							31.0	38.0	36.0					5																	140772663		2167	4290	6457	SO:0001583	missense	9708	0	0					g.chr5:140772663C>A	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.283C>A	chr5.hg19:g.140772663C>A	ENSP00000381605:p.Leu95Ile	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	p.L95I	NM_032088.1	NP_114477.1	1	2	3	2.006602	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	283	+			A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	1	1	hg19	c.283C>A	CCDS47291.1	1	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110383	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.39592	1.07	5.26	3.35	0.38373	5.26	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.351709	0.15671	U	0.250390	T	0.41351	0.1155	L	0.52126	1.63	0.25431	N	0.988188	B;B	0.25486	0.127;0.048	B;B	0.35971	0.215;0.096	T	0.33979	-0.9847	10	0.19147	T	0.46	.	13.2724	0.60167	0.3938:0.6062:0.0:0.0	.	95;95	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	95	ENSP00000381605:L95I	ENSP00000381605:L95I	L	+	1	0	0	PCDHGA8	140752847	140752847	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	0.579000	0.23788	1.210000	0.43336	0.655000	0.94253	CTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_032088			77	77		336	332	1		1	0		0	0	69	0		1	0	0	0	0	1	0	77	336
PCDHGA8	9708	broad.mit.edu	37	5	140774173	140774173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	ENST00000398604.2	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	598	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)			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)			GACAGAGACTCGGGCCAGAAC	0.711																																						ENST00000398604.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1792-1794)tCg>tTg		protocadherin gamma subfamily A, 8							28.0	36.0	33.0					5																	140774173		2198	4294	6492	SO:0001583	missense	9708	1	121330	33				g.chr5:140774173C>T	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.1793C>T	chr5.hg19:g.140774173C>T	ENSP00000381605:p.Ser598Leu	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	p.S598L	NM_032088.1	NP_114477.1	1	2	3	2.006602	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1793	+			A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	0	1	hg19	c.1793C>T	CCDS47291.1	1	.	.	.	.	.	.	.	.	.	.	.	25.7	4.663205	0.88251	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	5.06	5.06	0.68205	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.28214	U	0.016170	T	0.71417	0.3337	M	0.80028	2.48	0.42614	D	0.993329	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.76697	-0.2864	10	0.87932	D	0	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	598;598	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	598	ENSP00000381605:S598L	ENSP00000381605:S598L	S	+	2	0	0	PCDHGA8	140754357	140754357	0.972000	0.33761	0.972000	0.41901	0.996000	0.88848	2.485000	0.45250	2.366000	0.80165	0.655000	0.94253	TCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	0	0	1		2	2	2	0		0	0	70		70	78	1	2.060000	-2.971879	1	0.170000	NM_032088			83	78		434	404	0		1			0	0	70	0		1	0	0	0	0	0	0	83	434
PCDHGA9	56107	broad.mit.edu	37	5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	218	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)			CTCGGATGGCGGCGAGCCGCG	0.582																																						ENST00000573521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(652-654)Ggc>Agc		protocadherin gamma subfamily A, 9							26.0	31.0	29.0					5																	140783171		2045	4182	6227	SO:0001583	missense	56107	0	0					g.chr5:140783171G>A	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.652G>A	chr5.hg19:g.140783171G>A	ENSP00000460274:p.Gly218Ser	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.G218S	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	1	2	3	2.006602	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	652	+			A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	1	1	hg19	c.652G>A	CCDS58981.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_018921			55	54		247	241	1		1	0		0	0	46	0		1	0	0	0	0	1	0	55	247
PCDHGA9	56107	broad.mit.edu	37	5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	291	Cadherin 3. {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)			ACAATCTCTGCTATTCCAGCT	0.383																																						ENST00000573521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(871-873)Cta>Ata		protocadherin gamma subfamily A, 9							86.0	90.0	89.0					5																	140783390		1829	4091	5920	SO:0001583	missense	56107	0	0					g.chr5:140783390C>A	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.871C>A	chr5.hg19:g.140783390C>A	ENSP00000460274:p.Leu291Ile	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.L291I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	1	2	3	2.006602	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	871	+			A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	1	1	hg19	c.871C>A	CCDS58981.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_018921			97	97		481	473	1		1	0		0	0	120	0		1	4.020090e-01	0	0	0	8	0	97	481
PCDHGA9	56107	broad.mit.edu	37	5	140784352	140784352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	611	Cadherin 6. {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)			TATTCAAGGCCAGTGAGCCAG	0.612																																						ENST00000573521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1831-1833)gcC>gcA		protocadherin gamma subfamily A, 9							55.0	63.0	60.0					5																	140784352		2201	4299	6500	SO:0001819	synonymous_variant	56107	0	0					g.chr5:140784352C>A	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.1833C>A	chr5.hg19:g.140784352C>A		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A611A	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	1	2	3	2.006602	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1833	+			A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	1	1	hg19	c.1833C>A	CCDS58981.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	0	0	1		18	2	2	1		1	1	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_018921			91	90		429	415	1		1	0		1	0	95	0		1	6.924549e-01	0	1	0	12	0	91	429
PCDHGA9	56107	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	660	Cadherin 6. {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)			CACTGTCACGCTCACAGTAGC	0.602																																						ENST00000573521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1978-1980)Ctc>Ttc		protocadherin gamma subfamily A, 9							55.0	64.0	61.0					5																	140784497		2187	4293	6480	SO:0001583	missense	56107	1	121330	28				g.chr5:140784497C>T	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.1978C>T	chr5.hg19:g.140784497C>T	ENSP00000460274:p.Leu660Phe	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.L660F	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	1	2	3	2.006602	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1978	+			A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	1	1	hg19	c.1978C>T	CCDS58981.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_018921			79	78		303	302	1		1	0		0	0	67	0		1	7.435998e-01	0	1	0	11	0	79	303
PCDHGA9	56107	broad.mit.edu	37	5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	791			L -> F (in dbSNP:rs17097274).		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)			AAATGAGCCTTTGTGCGTCTC	0.443																																						ENST00000573521.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(2371-2373)Ttg>Gtg		protocadherin gamma subfamily A, 9							76.0	84.0	81.0					5																	140784890		2195	4298	6493	SO:0001583	missense	56107	0	0					g.chr5:140784890T>G	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.2371T>G	chr5.hg19:g.140784890T>G	ENSP00000460274:p.Leu791Val	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank	p.L791V	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	1	2	3	2.006602	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2371	+			A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	1	1	hg19	c.2371T>G	CCDS58981.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	0	0	1		2	2	2	1		1	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_018921			67	66		335	327	1		1	0		1	0	103	0		1	3.348065e-01	0	1	0	6	0	67	335
PCDHGB6	56100	broad.mit.edu	37	5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AGCGTAGACGCGGAGAGCGGG	0.532																																						ENST00000520790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(235-237)gCg>gTg		protocadherin gamma subfamily B, 6							128.0	134.0	132.0					5																	140788005		1958	4148	6106	SO:0001583	missense	56100	0	0					g.chr5:140788005C>T	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.236C>T	chr5.hg19:g.140788005C>T	ENSP00000428603:p.Ala79Val	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A79V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	1	2	3	2.006602	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	236	+			Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	1	1	hg19	c.236C>T	CCDS54929.1	1	.	.	.	.	.	.	.	.	.	.	c	9.378	1.072243	0.20147	.	.	ENSG00000253305	ENST00000520790	T	0.38722	1.12	5.38	0.674	0.17946	5.38	0.674	0.17946	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31358	0.0794	L	0.42008	1.315	0.09310	N	1	P;P	0.46952	0.813;0.887	B;B	0.43658	0.426;0.3	T	0.17868	-1.0355	9	0.13470	T	0.59	.	6.4485	0.21890	0.0:0.4606:0.2178:0.3216	.	79;79	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	79	ENSP00000428603:A79V	ENSP00000428603:A79V	A	+	2	0	0	PCDHGB6	140768189	140768189	0.000000	0.05858	0.942000	0.38095	0.936000	0.57629	-3.008000	0.00649	-0.082000	0.12640	0.467000	0.42956	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_018926			124	122		464	459	1		1	0		0	0	98	0		1	2.874480e-01	0	0	0	5	0	124	464
PCDHGB6	56100	broad.mit.edu	37	5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	570	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)			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)			TCTGGGTCCTGACGGCTCCGC	0.652																																						ENST00000520790.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1708-1710)Gac>Aac		protocadherin gamma subfamily B, 6							27.0	35.0	32.0					5																	140789477		2139	4257	6396	SO:0001583	missense	56100	0	0					g.chr5:140789477G>A	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.1708G>A	chr5.hg19:g.140789477G>A	ENSP00000428603:p.Asp570Asn	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.D570N	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	1	2	3	2.006602	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1708	+			Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	1	1	hg19	c.1708G>A	CCDS54929.1	1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.345171	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.48522	0.81	5.36	5.36	0.76844	5.36	5.36	0.76844	Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	N	0.13352	0.335	0.09310	N	1	D;D	0.62365	0.991;0.983	D;D	0.64595	0.917;0.927	T	0.30208	-0.9986	9	0.28530	T	0.3	.	7.8633	0.29522	0.0858:0.1639:0.7503:0.0	.	570;570	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	570	ENSP00000428603:D570N	ENSP00000428603:D570N	D	+	1	0	0	PCDHGB6	140769661	140769661	0.057000	0.20700	0.498000	0.27564	0.025000	0.11179	2.332000	0.43903	2.517000	0.84864	0.462000	0.41574	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_018926			39	39		109	107	1		1	0		0	0	28	0		1	4.018394e-01	0	0	0	5	0	39	109
PCDHGA10	56106	broad.mit.edu	37	5	140792997	140792997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	85	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)			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)			ACCCGCGCAGCGGCAGCTTGA	0.627																																						ENST00000398610.2	1.000000	0.200000	4.100000e-01	2.500000e-01	0.320000	0.372179	0.320000	0.310000																										0				43						c.(253-255)agC>agT		protocadherin gamma subfamily A, 10							59.0	75.0	69.0					5																	140792997		2119	4261	6380	SO:0001819	synonymous_variant	56106	0	0					g.chr5:140792997C>T		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.255C>T	chr5.hg19:g.140792997C>T		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.S85S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	1	2	3	2.006602	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	255	+			Q9Y5E0	Silent	SNP	ENST00000398610.2	1	1	hg19	c.255C>T	CCDS47292.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	0	1		2	2	2	0		0	0	165		165	164	1	2.060000	-2.927606	1	0.170000	NM_018913			24	24		887	881	0		1	0		0	0	165	0		9.999996e-01	4.491788e-03	0	0	0	4	0	24	887
PCDHGA10	56106	broad.mit.edu	37	5	140793471	140793471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	243	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)			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)			ATGACAACGCGCCGGTCTTCA	0.582																																						ENST00000398610.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(727-729)gcG>gcA		protocadherin gamma subfamily A, 10							44.0	47.0	46.0					5																	140793471		2051	4181	6232	SO:0001819	synonymous_variant	56106	0	0					g.chr5:140793471G>A		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.729G>A	chr5.hg19:g.140793471G>A		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.A243A	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	1	2	3	2.006602	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	729	+			Q9Y5E0	Silent	SNP	ENST00000398610.2	1	1	hg19	c.729G>A	CCDS47292.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-3.653232	1	0.170000	NM_018913			52	51		207	202	1		1	0		0	0	47	0		1	5.694883e-01	0	0	0	9	0	52	207
PCDHGB7	56099	broad.mit.edu	37	5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	460	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)			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)			TACCTGGTCCACGTGCCAGAA	0.572																																						ENST00000398594.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1378-1380)cAc>cGc		protocadherin gamma subfamily B, 7							74.0	87.0	83.0					5																	140798805		2128	4245	6373	SO:0001583	missense	56099	0	0					g.chr5:140798805A>G	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.1379A>G	chr5.hg19:g.140798805A>G	ENSP00000381594:p.His460Arg	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	p.H460R	NM_018927.3	NP_061750.1	1	2	3	2.006602	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1379	+			Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	1	1	hg19	c.1379A>G	CCDS47293.1	1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497983	0.44455	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.39	5.39	0.77823	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	1.371310	0.06276	U	0.696544	T	0.49525	0.1562	N	0.11284	0.12	0.23126	N	0.998253	P;P	0.49783	0.928;0.907	P;P	0.55260	0.772;0.586	T	0.57248	-0.7844	10	0.66056	D	0.02	.	15.0833	0.72130	1.0:0.0:0.0:0.0	.	460;460	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	460	ENSP00000381594:H460R	ENSP00000381594:H460R	H	+	2	0	0	PCDHGB7	140778989	140778989	0.000000	0.05858	0.083000	0.20561	0.702000	0.40608	1.074000	0.30703	2.036000	0.60181	0.402000	0.26972	CAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_018927			73	73		374	368	1		1	0		0	0	86	0		1	6.920829e-01	0	0	0	14	0	73	374
PCDHGB7	56099	broad.mit.edu	37	5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	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)			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)			CCAATGTGAGCCTGCGCGTGT	0.711																																						ENST00000398594.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1639-1641)agC>agA		protocadherin gamma subfamily B, 7							28.0	34.0	32.0					5																	140799067		2082	4197	6279	SO:0001583	missense	56099	0	0					g.chr5:140799067C>A	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.1641C>A	chr5.hg19:g.140799067C>A	ENSP00000381594:p.Ser547Arg	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	p.S547R	NM_018927.3	NP_061750.1	1	2	3	2.006602	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1641	+			Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	1	1	hg19	c.1641C>A	CCDS47293.1	1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.915298	0.52546	.	.	ENSG00000254122	ENST00000398594	T	0.51574	0.7	5.38	2.48	0.30137	5.38	2.48	0.30137	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.51856	0.1699	L	0.45744	1.44	0.21841	N	0.999514	D;D	0.67145	0.996;0.972	D;P	0.68943	0.961;0.891	T	0.39502	-0.9611	10	0.87932	D	0	.	2.0696	0.03610	0.1243:0.4274:0.2234:0.2249	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	547	ENSP00000381594:S547R	ENSP00000381594:S547R	S	+	3	2	2	PCDHGB7	140779251	140779251	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.059000	0.11731	1.270000	0.44297	0.491000	0.48974	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	0		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_018927			49	49		235	232	1		1			0	0	53	0		1	0	0	0	0	0	0	49	235
PCDHGB7	56099	broad.mit.edu	37	5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	563					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACCGCGGGTGCTGTACCCTGC	0.721																																						ENST00000398594.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1687-1689)Ctg>Atg		protocadherin gamma subfamily B, 7							28.0	35.0	33.0					5																	140799113		2138	4247	6385	SO:0001583	missense	56099	0	0					g.chr5:140799113C>A	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.1687C>A	chr5.hg19:g.140799113C>A	ENSP00000381594:p.Leu563Met	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	p.L563M	NM_018927.3	NP_061750.1	1	2	3	2.006602	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1687	+			Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	1	1	hg19	c.1687C>A	CCDS47293.1	1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723682	0.48728	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.38	4.51	0.55191	5.38	4.51	0.55191	Cadherin-like (1);	0.000000	0.28624	U	0.014683	T	0.81640	0.4865	M	0.89840	3.065	0.23661	N	0.99718	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.75764	-0.3203	10	0.87932	D	0	.	12.9582	0.58442	0.0:0.9204:0.0:0.0796	.	563;563	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	563	ENSP00000381594:L563M	ENSP00000381594:L563M	L	+	1	2	2	PCDHGB7	140779297	140779297	0.071000	0.21146	1.000000	0.80357	0.813000	0.45954	0.749000	0.26320	1.270000	0.44297	0.491000	0.48974	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_018927			52	52		238	234	1		1			0	0	58	0		1	0	0	0	0	0	0	52	238
PCDHGA11	56105	broad.mit.edu	37	5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	540	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)			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)			GACAGCGGGGACCCGCCCCTC	0.562																																						ENST00000398587.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1618-1620)gAc>gGc		protocadherin gamma subfamily A, 11							136.0	158.0	151.0					5																	140802413		2203	4300	6503	SO:0001583	missense	56105	0	0					g.chr5:140802413A>G	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.1619A>G	chr5.hg19:g.140802413A>G	ENSP00000381589:p.Asp540Gly	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G	p.D540G	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	1	2	3	2.006602	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1652	+			B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	1	1	hg19	c.1619A>G	CCDS47294.1	1	.	.	.	.	.	.	.	.	.	.	a	7.478	0.648163	0.14516	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.49432	0.78;0.78	5.72	4.5	0.54988	5.72	4.5	0.54988	Cadherin (4);Cadherin-like (1);	1.020620	0.07964	U	0.982835	T	0.36413	0.0966	N	0.16602	0.42	0.23356	N	0.997842	B;B;B	0.26876	0.071;0.162;0.036	B;B;B	0.28638	0.068;0.092;0.087	T	0.27191	-1.0081	10	0.66056	D	0.02	.	11.175	0.48595	0.6659:0.3341:0.0:0.0	.	540;540;540	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	G	540	ENSP00000381589:D540G;ENSP00000428333:D540G	ENSP00000381589:D540G	D	+	2	0	0	PCDHGA11	140782597	140782597	0.003000	0.15002	0.684000	0.30055	0.018000	0.09664	2.131000	0.42074	2.189000	0.69895	0.533000	0.62120	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	0	0	1		2	2	2	0		0	0	255		255	252	1	2.060000	-2.814577	1	0.170000	NM_018914			240	237		1115	1093	1		1	0		0	0	255	0		1	3.150905e-02	0	0	0	2	0	240	1115
PCDHGA12	26025	broad.mit.edu	37	5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GCTGGGAATCCTCCTGGGGAC	0.537																																						ENST00000252085.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(55-57)Ctc>Atc		protocadherin gamma subfamily A, 12							80.0	91.0	87.0					5																	140810381		2203	4300	6503	SO:0001583	missense	26025	0	0					g.chr5:140810381C>A	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.55C>A	chr5.hg19:g.140810381C>A	ENSP00000252085:p.Leu19Ile	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.L19I	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	1	2	3	2.006602	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	197	+			O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	1	1	hg19	c.55C>A	CCDS4260.1	1	.	.	.	.	.	.	.	.	.	.	c	4.038	0.004618	0.07866	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.57	-1.04	0.10068	5.57	-1.04	0.10068	.	.	.	.	.	T	0.49525	0.1562	M	0.69248	2.105	0.09310	N	1	P;B	0.35872	0.525;0.307	B;B	0.37387	0.248;0.138	T	0.45264	-0.9273	9	0.52906	T	0.07	.	10.0467	0.42190	0.0:0.2627:0.5489:0.1884	.	19;19	O60330-2;O60330	.;PCDGC_HUMAN	I	19	ENSP00000252085:L19I	ENSP00000252085:L19I	L	+	1	0	0	PCDHGA12	140790565	140790565	0.000000	0.05858	0.158000	0.22627	0.016000	0.09150	-1.337000	0.02657	-0.272000	0.09259	-0.219000	0.12488	CTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-5.401137	1	0.170000	NM_003735			117	114		595	586	1		1	0		0	0	134	0		1	6.116357e-01	0	0	0	12	0	117	595
PCDHGA12	26025	broad.mit.edu	37	5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GAGTACCGCGCGAGCGTTCCG	0.637																																						ENST00000252085.3	1.000000	0.390000	7.700000e-01	4.800000e-01	0.600000	0.635460	0.600000	0.580000																										0				58						c.(745-747)gCg>gTg		protocadherin gamma subfamily A, 12							53.0	55.0	54.0					5																	140811072		2203	4300	6503	SO:0001583	missense	26025	0	0					g.chr5:140811072C>T	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.746C>T	chr5.hg19:g.140811072C>T	ENSP00000252085:p.Ala249Val	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.A249V	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	1	2	3	2.006602	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	888	+			O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	1	1	hg19	c.746C>T	CCDS4260.1	0	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.624354	0.00820	.	.	ENSG00000253159	ENST00000252085	T	0.52295	0.67	5.09	-1.7	0.08159	5.09	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.09949	0.0244	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.33266	-0.9875	9	0.02654	T	1	.	5.4684	0.16656	0.1142:0.2523:0.0:0.6335	.	249;249	O60330-2;O60330	.;PCDGC_HUMAN	V	249	ENSP00000252085:A249V	ENSP00000252085:A249V	A	+	2	0	0	PCDHGA12	140791256	140791256	0.977000	0.34250	0.129000	0.21949	0.489000	0.33432	1.584000	0.36589	-0.416000	0.07473	-1.707000	0.00718	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	0		2	2	2	0		0	0	84		84	82	1	2.060000	-19.999830	1	0.170000	NM_003735			23	23		439	436	0		1	0		0	0	84	0		9.999994e-01	6.225498e-02	0	0	0	8	0	23	439
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GCCTTGGGCACGCAGCTGCTT	0.597																																						ENST00000252085.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(775-777)aCg>aTg		protocadherin gamma subfamily A, 12							55.0	56.0	56.0					5																	140811102		2203	4300	6503	SO:0001583	missense	26025	0	0					g.chr5:140811102C>T	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.776C>T	chr5.hg19:g.140811102C>T	ENSP00000252085:p.Thr259Met	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.T259M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	1	2	3	2.006602	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	918	+			O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	1	1	hg19	c.776C>T	CCDS4260.1	1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	0	PCDHGA12	140791286	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	0		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_003735			88	88		361	359	1		1	0		0	0	90	0		1	6.667552e-01	0	0	0	11	0	88	361
PCDHGC3	5098	broad.mit.edu	37	5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	331	Cadherin 3. {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)			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)			GGGCGCCAATCCCGAAGGAGC	0.542																																						ENST00000308177.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(991-993)Ccc>Tcc		protocadherin gamma subfamily C, 3							81.0	73.0	76.0					5																	140856674		2203	4300	6503	SO:0001583	missense	5098	0	0					g.chr5:140856674C>T	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.991C>T	chr5.hg19:g.140856674C>T	ENSP00000312070:p.Pro331Ser	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.P331S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	1	2	3	2.006602	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1095	+			O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	1	1	hg19	c.991C>T	CCDS4261.1	1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572384	0.13623	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34337	0.0894	L	0.31476	0.935	0.09310	N	1	B;P	0.37731	0.134;0.607	B;B	0.30782	0.084;0.12	T	0.08848	-1.0702	9	0.12430	T	0.62	.	11.1109	0.48232	0.0:0.8591:0.0:0.1409	.	331;331	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	331	ENSP00000312070:P331S	ENSP00000312070:P331S	P	+	1	0	0	PCDHGC3	140836858	140836858	0.001000	0.12720	0.992000	0.48379	0.976000	0.68499	0.869000	0.27996	2.865000	0.98341	0.655000	0.94253	CCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	0	0	1		16	3	2	1		1	1	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_002588			63	63		283	280	1		1	1		1	0	76	0		1	9.425647e-01	0	7	0	25	0	63	283
PCDHGC3	5098	broad.mit.edu	37	5	140856829	140856829	+	Silent	SNP	C	C	T	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	382	Cadherin 4. {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)			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)			TGGATGCTGGCGAGAACGGGC	0.567													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17932	0.0		0.0	False		,,,				2504	0.0					ENST00000308177.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1144-1146)ggC>ggT		protocadherin gamma subfamily C, 3		C	,,,,,,,,,,,,,,,,,,,,,,	24,4382	30.8+/-60.4	0,24,2179	44.0	42.0	42.0		1146,,,,,,,,,,,,,,,,,,,,,1146,	-3.2	0.9	5	dbSNP_129	42	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032402.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	,,,,,,,,,,,,,,,,,,,,,,	382/935,,,,,,,,,,,,,,,,,,,,,382/864,	140856829	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	5098	53	121412	46				g.chr5:140856829C>T	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.1146C>T	chr5.hg19:g.140856829C>T		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.G382G	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	1	2	3	2.006602	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1250	+			O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	1	1	hg19	c.1146C>T	CCDS4261.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-3.277678	1	0.170000	NM_002588			49	48		179	172	1		1	1		0	0	46	0		1	9.895136e-01	0	7	0	22	0	49	179
PCDHGC4	56098	broad.mit.edu	37	5	140867053	140867053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	771					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACTCTCATGGCTGTACACCCT	0.572																																						ENST00000306593.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2311-2313)ggC>ggA		protocadherin gamma subfamily C, 4							87.0	74.0	78.0					5																	140867053		2203	4300	6503	SO:0001819	synonymous_variant	56098	0	0					g.chr5:140867053C>A	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.2313C>A	chr5.hg19:g.140867053C>A		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.G771G	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	1	2	3	2.006602	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2313	+			Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	1	1	hg19	c.2313C>A	CCDS4262.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-3.306799	1	0.170000	NM_018928			51	50		237	237	1		1	0		0	0	74	0		1	0	0	0	0	1	0	51	237
PCDHGC5	56097	broad.mit.edu	37	5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTGCACTGTGGCTGCC	0.527																																						ENST00000252087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1423-1425)aCt>aTt		protocadherin gamma subfamily C, 5							128.0	137.0	134.0					5																	140870231		2203	4300	6503	SO:0001583	missense	56097	0	0					g.chr5:140870231C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1424C>T	chr5.hg19:g.140870231C>T	ENSP00000252087:p.Thr475Ile	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.T475I	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	1	2	3	2.006602	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1424	+			Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	1	1	hg19	c.1424C>T	CCDS4263.1	1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544687	0.27563	.	.	ENSG00000240764	ENST00000252087	T	0.02446	4.29	5.56	4.69	0.59074	5.56	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.06600	0.0169	M	0.74881	2.28	0.34109	D	0.662799	B;B	0.20261	0.043;0.014	B;B	0.23574	0.021;0.047	T	0.02075	-1.1218	10	0.66056	D	0.02	.	14.3616	0.66776	0.0:0.9284:0.0:0.0716	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	475	ENSP00000252087:T475I	ENSP00000252087:T475I	T	+	2	0	0	PCDHGC5	140850415	140850415	0.002000	0.14202	0.979000	0.43373	0.982000	0.71751	1.316000	0.33620	1.582000	0.49881	0.655000	0.94253	ACT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	0	0	1		2	2	2	0		0	0	266		266	263	1	2.060000	-20.000000	1	0.170000	NM_018929			194	192		1017	993	1		1			0	0	266	0		1	0	0	0	0	0	0	194	1017
PCDHGC5	56097	broad.mit.edu	37	5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597																																						ENST00000252087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1930-1932)Gtg>Atg		protocadherin gamma subfamily C, 5							86.0	79.0	81.0					5																	140870737		2203	4300	6503	SO:0001583	missense	56097	0	0					g.chr5:140870737G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1930G>A	chr5.hg19:g.140870737G>A	ENSP00000252087:p.Val644Met	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.V644M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	1	2	3	2.006602	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1930	+			Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	1	1	hg19	c.1930G>A	CCDS4263.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477826	0.44044	.	.	ENSG00000240764	ENST00000252087	T	0.21543	2.0	5.3	5.3	0.74995	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000173	T	0.30978	0.0782	L	0.49350	1.555	0.30895	N	0.729866	D;P	0.56521	0.976;0.939	P;P	0.56563	0.779;0.801	T	0.30357	-0.9981	10	0.87932	D	0	.	8.2092	0.31473	0.083:0.2734:0.6435:0.0	.	644;644	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	644	ENSP00000252087:V644M	ENSP00000252087:V644M	V	+	1	0	0	PCDHGC5	140850921	140850921	0.453000	0.25721	1.000000	0.80357	0.994000	0.84299	1.513000	0.35823	2.753000	0.94483	0.655000	0.94253	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_018929			63	62		252	245	1		1	0		0	0	50	0		1	0	0	0	0	1	0	63	252
PCDHGC5	56097	broad.mit.edu	37	5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	685					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACACCCTCCTGAGCGTTCA	0.537																																						ENST00000252087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2053-2055)cCt>cAt		protocadherin gamma subfamily C, 5							205.0	187.0	193.0					5																	140870861		2203	4300	6503	SO:0001583	missense	56097	0	0					g.chr5:140870861C>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2054C>A	chr5.hg19:g.140870861C>A	ENSP00000252087:p.Pro685His	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.P685H	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	1	2	3	2.006602	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2054	+			Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	1	1	hg19	c.2054C>A	CCDS4263.1	1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840067	0.16891	.	.	ENSG00000240764	ENST00000252087	T	0.49720	0.77	4.7	3.76	0.43208	4.7	3.76	0.43208	.	0.174914	0.28724	N	0.014353	T	0.45337	0.1337	L	0.46157	1.445	0.09310	N	1	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.195	T	0.43032	-0.9416	10	0.66056	D	0.02	.	10.9736	0.47452	0.1482:0.7223:0.1295:0.0	.	685;685	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	685	ENSP00000252087:P685H	ENSP00000252087:P685H	P	+	2	0	0	PCDHGC5	140851045	140851045	0.000000	0.05858	0.993000	0.49108	0.395000	0.30598	0.178000	0.16820	2.428000	0.82296	0.561000	0.74099	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	0	0	1		2	2	2	0		0	0	197		197	190	1	2.060000	-20.000000	1	0.170000	NM_018929			163	160		828	814	1		1	0		0	0	197	0		1	2.741525e-02	0	0	0	2	0	163	828
DIAPH1	1729	broad.mit.edu	37	5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000398557.4	-	27	3796	c.3656G>A	c.(3655-3657)cGt>cAt	p.R1219H	DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532																																						ENST00000398557.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(3655-3657)cGt>cAt		diaphanous-related formin 1							90.0	95.0	93.0					5																	140903715		2039	4189	6228	SO:0001583	missense	1729	2	120994	34				g.chr5:140903715C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3656G>A	chr5.hg19:g.140903715C>T	ENSP00000381565:p.Arg1219His	0					DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H	p.R1219H	NM_005219.4	NP_005210.3	1	2	3	2.006602	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	27	3796	-			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	1	1	hg19	c.3656G>A	CCDS43374.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639715	0.87760	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.83335	-1.69;-1.68;-1.57;-1.71;-1.7;-1.71;-1.7;-1.69	5.6	5.6	0.85130	5.6	5.6	0.85130	Diaphanous autoregulatory (1);	0.060394	0.64402	D	0.000002	D	0.89515	0.6737	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.89446	0.3727	10	0.56958	D	0.05	.	18.3841	0.90461	0.0:1.0:0.0:0.0	.	1209;1210;1219	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	1216;1162;1195;1210;1211;1219;1220;1207	ENSP00000373706:R1216H;ENSP00000429282:R1162H;ENSP00000381570:R1195H;ENSP00000373709:R1210H;ENSP00000381572:R1211H;ENSP00000381565:R1219H;ENSP00000253811:R1220H;ENSP00000428268:R1207H	ENSP00000253811:R1220H	R	-	2	0	0	DIAPH1	140883899	140883899	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.183000	0.77697	2.647000	0.89833	0.650000	0.86243	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_005219			77	77		325	316	1		1	1		0	0	76	0		1	1	0	208	0	392	0	77	325
DIAPH1	1729	broad.mit.edu	37	5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000398557.4	-	19	2630	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	830	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413																																						ENST00000398557.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(2488-2490)aaG>aaT		diaphanous-related formin 1							139.0	126.0	130.0					5																	140913993		1818	4090	5908	SO:0001583	missense	1729	0	0					g.chr5:140913993C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2490G>T	chr5.hg19:g.140913993C>A	ENSP00000381565:p.Lys830Asn	0					DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N	p.K830N	NM_005219.4	NP_005210.3	1	2	3	2.006602	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	19	2630	-			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	1	1	hg19	c.2490G>T	CCDS43374.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.439464	0.98286	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;D;T;D;T	0.83506	2.24;2.24;2.24;-0.15;-1.73;-0.15;-1.73;2.24	5.62	1.85	0.25348	5.62	1.85	0.25348	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056142	0.64402	D	0.000002	D	0.88607	0.6482	M	0.78916	2.43	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.958;0.958	D	0.85853	0.1405	10	0.45353	T	0.12	.	8.7768	0.34767	0.0:0.5452:0.0:0.4547	.	773;821;830	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	N	827;773;806;821;822;830;831;818;269	ENSP00000373706:K827N;ENSP00000429282:K773N;ENSP00000381570:K806N;ENSP00000373709:K821N;ENSP00000381572:K822N;ENSP00000381565:K830N;ENSP00000253811:K831N;ENSP00000428268:K818N	ENSP00000253811:K831N	K	-	3	2	2	DIAPH1	140894177	140894177	0.955000	0.32602	1.000000	0.80357	0.975000	0.68041	-0.030000	0.12308	0.321000	0.23259	-0.145000	0.13849	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-3.066183	1	0.170000	NM_005219			58	57		254	251	1		1	1		0	0	52	0		1	1	0	123	0	263	0	58	254
DIAPH1	1729	broad.mit.edu	37	5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000398557.4	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413																																						ENST00000398557.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(565-567)Gcc>Acc		diaphanous-related formin 1							166.0	160.0	162.0					5																	140962828		1935	4150	6085	SO:0001583	missense	1729	0	0					g.chr5:140962828C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.565G>A	chr5.hg19:g.140962828C>T	ENSP00000381565:p.Ala189Thr	0					DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T	p.A189T	NM_005219.4	NP_005210.3	1	2	3	2.006602	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	6	705	-			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	1	1	hg19	c.565G>A	CCDS43374.1	1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356752	0.61293	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	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	5.92	3.16	0.36331	5.92	3.16	0.36331	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	N	0.25647	0.755	0.36354	D	0.860293	B;P	0.35192	0.429;0.489	B;B	0.25291	0.043;0.059	T	0.72487	-0.4278	10	0.48119	T	0.1	.	4.3467	0.11136	0.2726:0.5099:0.0:0.2175	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	T	189;135;180;180;180;189;189;180	ENSP00000373706:A189T;ENSP00000429282:A135T;ENSP00000381570:A180T;ENSP00000373709:A180T;ENSP00000381572:A180T;ENSP00000381565:A189T;ENSP00000253811:A189T;ENSP00000428268:A180T	ENSP00000253811:A189T	A	-	1	0	0	DIAPH1	140943012	140943012	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	1.064000	0.30579	0.394000	0.25230	0.650000	0.86243	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	157		157	157	1	2.060000	-20.000000	1	0.170000	NM_005219			144	140		553	539	1		1	1		0	0	157	0		1	1	0	86	0	147	0	144	553
ARAP3	64411	broad.mit.edu	37	5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000239440.4	-	21	3100	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1012	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)			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						TTTCTCCAGGCGCTGATTCTT	0.572																																						ENST00000239440.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3034-3036)cGc>cAc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							70.0	75.0	73.0					5																	141041335		2203	4300	6503	SO:0001583	missense	64411	0	0					g.chr5:141041335C>T	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.3035G>A	chr5.hg19:g.141041335C>T	ENSP00000239440:p.Arg1012His	0					ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR	p.R1012H	NM_022481.5	NP_071926.4	1	2	3	2.006602	Q8WWN8	ARAP3_HUMAN		21	3100	-			B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	1	1	hg19	c.3035G>A	CCDS4266.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.408784	0.96072	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22743	1.94;1.94;1.94	5.33	5.33	0.75918	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061089	0.64402	D	0.000011	T	0.59252	0.2180	M	0.93763	3.455	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.989	T	0.70059	-0.4976	10	0.87932	D	0	.	18.8077	0.92045	0.0:1.0:0.0:0.0	.	674;843;1012	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	843;1012;674	ENSP00000421826:R843H;ENSP00000239440:R1012H;ENSP00000421468:R674H	ENSP00000239440:R1012H	R	-	2	0	0	ARAP3	141021519	141021519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.156000	0.77453	2.777000	0.95525	0.655000	0.94253	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-20.000000	1	0.170000	NM_022481			137	136		534	526	1		1	1		0	0	115	0		1	4.366772e-01	0	2	0	5	0	137	534
ARAP3	64411	broad.mit.edu	37	5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000239440.4	-	17	2538	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	825					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)			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						CGAAGGAGGCCAAACCCTGAC	0.706																																						ENST00000239440.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999882	0.990000	1.000000																										0				53						c.(2473-2475)Ggc>Agc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							16.0	22.0	20.0					5																	141046090		2201	4299	6500	SO:0001583	missense	64411	0	0					g.chr5:141046090C>T	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.2473G>A	chr5.hg19:g.141046090C>T	ENSP00000239440:p.Gly825Ser	0					ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR	p.G825S	NM_022481.5	NP_071926.4	1	2	3	2.006602	Q8WWN8	ARAP3_HUMAN		17	2538	-			B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	1	1	hg19	c.2473G>A	CCDS4266.1	1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491677	0.64074	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.53	5.53	0.82687	5.53	5.53	0.82687	Pleckstrin homology domain (1);	0.240387	0.40302	N	0.001133	T	0.37156	0.0993	N	0.22421	0.69	0.36747	D	0.882547	D;D;D	0.67145	0.979;0.996;0.993	P;P;P	0.61477	0.69;0.889;0.777	T	0.42498	-0.9448	10	0.66056	D	0.02	.	12.3757	0.55279	0.2788:0.7212:0.0:0.0	.	487;727;825	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	727;825;487	ENSP00000421826:G727S;ENSP00000239440:G825S;ENSP00000421468:G487S	ENSP00000239440:G825S	G	-	1	0	0	ARAP3	141026274	141026274	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	5.232000	0.65332	2.593000	0.87608	0.655000	0.94253	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_022481			20	20		95	95	1		1	0		0	0	16	0		9.999976e-01	6.494713e-01	0	0	0	12	0	20	95
ARAP3	64411	broad.mit.edu	37	5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000239440.4	-	2	288	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	75					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)			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						GCACTATCTGATTTGGGATCC	0.632																																						ENST00000239440.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(223-225)Tca>Cca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							87.0	93.0	91.0					5																	141059831		2203	4300	6503	SO:0001583	missense	64411	0	0					g.chr5:141059831A>G	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.223T>C	chr5.hg19:g.141059831A>G	ENSP00000239440:p.Ser75Pro	0					ARAP3_ENST00000508305.1_5'UTR	p.S75P	NM_022481.5	NP_071926.4	1	2	3	2.006602	Q8WWN8	ARAP3_HUMAN		2	288	-			B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	1	1	hg19	c.223T>C	CCDS4266.1	1	.	.	.	.	.	.	.	.	.	.	A	2.403	-0.337227	0.05278	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	T;T	0.58652	3.17;0.32	4.35	-1.53	0.08611	4.35	-1.53	0.08611	.	1.612410	0.03777	N	0.260768	T	0.36248	0.0960	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.29301	T	0.29	.	8.6091	0.33791	0.3899:0.0:0.6101:0.0	.	75	Q8WWN8	ARAP3_HUMAN	P	75	ENSP00000239440:S75P;ENSP00000421148:S75P	ENSP00000239440:S75P	S	-	1	0	0	ARAP3	141040015	141040015	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.024000	0.13555	-0.140000	0.11394	0.374000	0.22700	TCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_022481			132	130		560	547	1		1	1		0	0	99	0		1	8.368933e-01	0	3	0	13	0	132	560
ARAP3	64411	broad.mit.edu	37	5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000239440.4	-	2	168	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	35	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)			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						CCCCGGGCTGCACCTGCTGTA	0.647																																						ENST00000239440.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(103-105)Gca>Aca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							53.0	52.0	52.0					5																	141059951		2203	4299	6502	SO:0001583	missense	64411	0	0					g.chr5:141059951C>T	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.103G>A	chr5.hg19:g.141059951C>T	ENSP00000239440:p.Ala35Thr	0					ARAP3_ENST00000508305.1_5'UTR	p.A35T	NM_022481.5	NP_071926.4	1	2	3	2.006602	Q8WWN8	ARAP3_HUMAN		2	168	-			B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	1	1	hg19	c.103G>A	CCDS4266.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652939	0.88056	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.85702	-2.02;-0.02	4.39	4.39	0.52855	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.080522	0.47093	D	0.000241	D	0.86464	0.5939	L	0.41356	1.27	0.80722	D	1	P	0.51791	0.948	P	0.57371	0.819	D	0.87025	0.2131	10	0.52906	T	0.07	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	35	Q8WWN8	ARAP3_HUMAN	T	35	ENSP00000239440:A35T;ENSP00000421148:A35T	ENSP00000239440:A35T	A	-	1	0	0	ARAP3	141040135	141040135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.638000	0.54332	2.272000	0.75746	0.462000	0.41574	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_022481			69	69		298	295	1		1	1		0	0	58	0		1	4.647516e-01	0	3	0	5	0	69	298
PCDH1	5097	broad.mit.edu	37	5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000394536.3	-	3	2853	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.A905V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	905					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000394536.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2713-2715)gCc>gTc		protocadherin 1							99.0	100.0	100.0					5																	141243182		2203	4300	6503	SO:0001583	missense	5097	0	0					g.chr5:141243182G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2714C>T	chr5.hg19:g.141243182G>A	ENSP00000378043:p.Ala905Val	0					PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000287008.3_Missense_Mutation_p.A905V|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V	p.A905V	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	1	2	3	2.006602	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	2853	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	1	1	hg19	c.2714C>T	CCDS43375.1	1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761876	0.15914	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.75	2.83	0.33086	4.75	2.83	0.33086	Protocadherin (1);	0.408346	0.20264	N	0.095810	T	0.12646	0.0307	N	0.08118	0	0.29329	N	0.866811	B;B	0.29301	0.183;0.241	B;B	0.27887	0.084;0.037	T	0.06972	-1.0797	10	0.49607	T	0.09	.	2.4986	0.04628	0.1119:0.1948:0.5167:0.1765	.	905;905	Q08174;Q08174-2	PCDH1_HUMAN;.	V	905;905;893;916;883	ENSP00000287008:A905V;ENSP00000378043:A905V;ENSP00000403497:A893V;ENSP00000350122:A916V;ENSP00000438825:A883V	ENSP00000287008:A905V	A	-	2	0	0	PCDH1	141223366	141223366	0.876000	0.30132	1.000000	0.80357	0.988000	0.76386	1.925000	0.40074	1.179000	0.42884	0.457000	0.33378	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	0	0	1		2	2	2	0		0	0	126		126	125	1	2.060000	-20.000000	1	0.170000	NM_032420			169	168		671	657	1		1	1		0	0	126	0		1	1	0	372	0	482	0	169	671
PCDH1	5097	broad.mit.edu	37	5	141248692	141248692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000394536.3	-	2	484	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000503492.1_Silent_p.I115I|PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Silent_p.I115I|PCDH1_ENST00000456271.1_Silent_p.I115I	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000394536.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				51						c.(343-345)atC>atT		protocadherin 1							79.0	76.0	77.0					5																	141248692		2203	4300	6503	SO:0001819	synonymous_variant	5097	0	0					g.chr5:141248692G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.345C>T	chr5.hg19:g.141248692G>A		0					PCDH1_ENST00000503492.1_Silent_p.I115I|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000287008.3_Silent_p.I115I|PCDH1_ENST00000536585.1_Silent_p.I93I	p.I115I	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	1	2	3	2.006602	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	484	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Q8IUP2	Silent	SNP	ENST00000394536.3	1	1	hg19	c.345C>T	CCDS43375.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.260414	1	0.170000	NM_032420			40	40		204	198	1		1	1		0	0	58	0		1	1	0	189	0	275	0	40	204
KIAA0141	9812	broad.mit.edu	37	5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	53					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)				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)			TCAGGTCCCCATGGCCCAGGC	0.557																																						ENST00000432126.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(157-159)cAt>cGt		KIAA0141							104.0	82.0	89.0					5																	141304986		2203	4300	6503	SO:0001583	missense	9812	2	121396	35				g.chr5:141304986A>G	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.158A>G	chr5.hg19:g.141304986A>G	ENSP00000396225:p.His53Arg	0					KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	1	2	3	2.006602	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	292	+		all_hematologic(541;0.118)	Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	1	1	hg19	c.158A>G	CCDS4268.1	1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378680	0.42207	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18338	2.71;2.71;2.22	4.85	-0.695	0.11291	4.85	-0.695	0.11291	.	0.672812	0.13581	N	0.377363	T	0.14700	0.0355	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.62326	D	0.03	-0.4811	3.2757	0.06897	0.5377:0.0:0.2902:0.1721	.	53	Q14154	DELE_HUMAN	R	53	ENSP00000396225:H53R;ENSP00000194118:H53R;ENSP00000422686:H53R	ENSP00000194118:H53R	H	+	2	0	0	KIAA0141	141285170	141285170	0.001000	0.12720	0.160000	0.22671	0.498000	0.33706	0.678000	0.25277	-0.030000	0.13804	0.374000	0.22700	CAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_014773			59	59		281	276	1		1	1		0	0	55	0		1	1	0	30	0	129	0	59	281
KIAA0141	9812	broad.mit.edu	37	5	141312861	141312861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	264					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)				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)			ACACGGCAGCCTTTTCTTACT	0.557																																						ENST00000432126.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(790-792)gcC>gcT		KIAA0141							76.0	77.0	77.0					5																	141312861		2203	4300	6503	SO:0001819	synonymous_variant	9812	0	0					g.chr5:141312861C>T	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.792C>T	chr5.hg19:g.141312861C>T		0					KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	1	2	3	2.006602	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	8	926	+		all_hematologic(541;0.118)	Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	1	1	hg19	c.792C>T	CCDS4268.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.298665	1	0.170000	NM_014773			68	67		312	306	1		1	1		0	0	74	0		1	1	0	29	0	117	0	68	312
PCDH12	51294	broad.mit.edu	37	5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	842					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)			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)			GTGTCTTGCAGCACCTCTCGG	0.652																																						ENST00000231484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2524-2526)Ctg>Atg		protocadherin 12							79.0	75.0	77.0					5																	141334893		2203	4300	6503	SO:0001583	missense	51294	0	0					g.chr5:141334893G>T	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.2524C>A	chr5.hg19:g.141334893G>T	ENSP00000231484:p.Leu842Met	0					AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	p.L842M	NM_016580.2	NP_057664.1	1	2	3	2.006602	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	3734	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	1	1	hg19	c.2524C>A	CCDS4269.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662690	0.47572	.	.	ENSG00000113555	ENST00000231484	T	0.55588	0.51	5.07	3.14	0.36123	5.07	3.14	0.36123	.	0.316056	0.26065	N	0.026552	T	0.58694	0.2140	L	0.60455	1.87	0.29589	N	0.848538	D	0.67145	0.996	P	0.59703	0.862	T	0.55970	-0.8056	10	0.54805	T	0.06	.	6.1411	0.20261	0.2281:0.0:0.7719:0.0	.	842	Q9NPG4	PCD12_HUMAN	M	842	ENSP00000231484:L842M	ENSP00000231484:L842M	L	-	1	2	2	PCDH12	141315077	141315077	0.998000	0.40836	0.933000	0.37362	0.209000	0.24338	3.312000	0.51927	1.381000	0.46364	0.561000	0.74099	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_016580			61	61		340	335	1		1	0		0	0	81	0		1	9.082905e-01	0	0	0	25	0	61	340
PCDH12	51294	broad.mit.edu	37	5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	763					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)			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)			GGCCTCTTGGGCTGCTGGCGG	0.587																																						ENST00000231484.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2287-2289)Ccc>Tcc		protocadherin 12							64.0	54.0	58.0					5																	141335130		2203	4300	6503	SO:0001583	missense	51294	0	0					g.chr5:141335130G>A	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.2287C>T	chr5.hg19:g.141335130G>A	ENSP00000231484:p.Pro763Ser	0					AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	p.P763S	NM_016580.2	NP_057664.1	1	2	3	2.006602	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	3497	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	1	1	hg19	c.2287C>T	CCDS4269.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892165	0.72524	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.062472	0.64402	D	0.000004	T	0.65842	0.2730	M	0.73962	2.25	0.50813	D	0.999894	D	0.69078	0.997	D	0.64042	0.921	T	0.66073	-0.6014	10	0.41790	T	0.15	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	763	Q9NPG4	PCD12_HUMAN	S	763	ENSP00000231484:P763S	ENSP00000231484:P763S	P	-	1	0	0	PCDH12	141315314	141315314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	CCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_016580			51	50		250	243	1		1	0		0	0	54	0		1	8.539238e-01	0	0	0	19	0	51	250
PCDH12	51294	broad.mit.edu	37	5	141335291	141335291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335291G>T	ENST00000231484.3	-	1	3336	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	709	Cadherin 6. {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)			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)			CAAGGCCCCAGGCTTGCGGGC	0.587																																						ENST00000231484.3	1.000000	0.230000	8.500000e-01	3.600000e-01	0.550000	0.593072	0.550000	1.000000																										0				38						c.(2125-2127)cCt>cAt		protocadherin 12							51.0	42.0	45.0					5																	141335291		2203	4300	6503	SO:0001583	missense	51294	0	0					g.chr5:141335291G>T	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.2126C>A	chr5.hg19:g.141335291G>T	ENSP00000231484:p.Pro709His	0					AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	p.P709H	NM_016580.2	NP_057664.1	1	2	3	2.006602	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	3336	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	0	1	hg19	c.2126C>A	CCDS4269.1	0	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645319	0.03531	.	.	ENSG00000113555	ENST00000231484	T	0.56275	0.47	5.3	3.47	0.39725	5.3	3.47	0.39725	Cadherin (1);	0.379762	0.27677	N	0.018320	T	0.50343	0.1610	M	0.67953	2.075	0.09310	N	1	P	0.52842	0.956	B	0.43916	0.436	T	0.50110	-0.8866	10	0.72032	D	0.01	.	8.0716	0.30693	0.0838:0.0:0.7579:0.1584	.	709	Q9NPG4	PCD12_HUMAN	H	709	ENSP00000231484:P709H	ENSP00000231484:P709H	P	-	2	0	0	PCDH12	141315475	141315475	0.210000	0.23517	0.010000	0.14722	0.152000	0.21847	3.035000	0.49759	0.776000	0.33473	0.655000	0.94253	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-9.751586	1	0.170000	NM_016580			6	6		134	133	0		1	0		0	0	37	0		9.652535e-01	3.937296e-01	0	0	0	28	0	6	134
PCDH12	51294	broad.mit.edu	37	5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	316	Cadherin 3. {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)			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)			CTCGTAGGCAGGGTTCTTTTC	0.512																																						ENST00000231484.3	1.000000	0.340000	7.700000e-01	4.400000e-01	0.580000	0.614508	0.580000	0.560000																										0				38						c.(946-948)cCt>cAt		protocadherin 12							70.0	63.0	66.0					5																	141336470		2203	4300	6503	SO:0001583	missense	51294	0	0					g.chr5:141336470G>T	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.947C>A	chr5.hg19:g.141336470G>T	ENSP00000231484:p.Pro316His	0					PCDH12_ENST00000512221.1_5'Flank	p.P316H	NM_016580.2	NP_057664.1	1	2	3	2.006602	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2157	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	1	1	hg19	c.947C>A	CCDS4269.1	0	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508335	0.12883	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.26	5.26	0.73747	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.415449	0.27100	N	0.020930	T	0.46619	0.1402	L	0.37697	1.125	0.19945	N	0.99994	B	0.18610	0.029	B	0.18263	0.021	T	0.32877	-0.9890	10	0.39692	T	0.17	.	11.2965	0.49282	0.0:0.0:0.8184:0.1816	.	316	Q9NPG4	PCD12_HUMAN	H	316	ENSP00000231484:P316H	ENSP00000231484:P316H	P	-	2	0	0	PCDH12	141316654	141316654	0.132000	0.22450	0.993000	0.49108	0.774000	0.43823	2.647000	0.46639	2.731000	0.93534	0.655000	0.94253	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.729436	1	0.170000	NM_016580			16	16		322	313	0		1	0		0	0	55	0		9.999231e-01	4.872809e-01	0	0	0	33	0	16	322
PCDH12	51294	broad.mit.edu	37	5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	9					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)			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)			AAAAGCCCCAGCAGAAGTTGC	0.498																																						ENST00000231484.3	1.000000	0.190000	4.500000e-01	2.500000e-01	0.330000	0.388078	0.330000	0.320000																										0				38						c.(25-27)Ctg>Atg		protocadherin 12							62.0	69.0	67.0					5																	141337392		2203	4300	6503	SO:0001583	missense	51294	0	0					g.chr5:141337392G>T	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.25C>A	chr5.hg19:g.141337392G>T	ENSP00000231484:p.Leu9Met	0					PCDH12_ENST00000512221.1_5'Flank	p.L9M	NM_016580.2	NP_057664.1	1	2	3	2.006602	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1235	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	1	1	hg19	c.25C>A	CCDS4269.1	0	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817293	0.50633	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.55588	0.51	4.72	3.83	0.44106	4.72	3.83	0.44106	.	0.089843	0.46758	D	0.000273	T	0.63307	0.2500	L	0.54323	1.7	0.30373	N	0.782712	D	0.76494	0.999	D	0.68765	0.96	T	0.61322	-0.7086	10	0.46703	T	0.11	.	10.9922	0.47555	0.0943:0.0:0.9057:0.0	.	9	Q9NPG4	PCD12_HUMAN	M	9	ENSP00000231484:L9M	ENSP00000231484:L9M	L	-	1	2	2	PCDH12	141317576	141317576	0.526000	0.26298	1.000000	0.80357	0.956000	0.61745	0.819000	0.27308	2.465000	0.83290	0.462000	0.41574	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	0	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-3.246943	1	0.170000	NM_016580			15	15		536	530	0		1	0		0	0	113	0		9.998627e-01	1.153836e-01	0	0	0	20	0	15	536
GNPDA1	10007	broad.mit.edu	37	5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000508177.1	-	4	1303	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	182					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587																																						ENST00000508177.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998748	0.990000	1.000000																										0				6						c.(544-546)cCc>cTc		glucosamine-6-phosphate deaminase 1							46.0	41.0	43.0					5																	141384546		2203	4300	6503	SO:0001583	missense	10007	0	0					g.chr5:141384546G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.545C>T	chr5.hg19:g.141384546G>A	ENSP00000423674:p.Pro182Leu	0					GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L	p.P182L			1	2	3	2.006602	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	4	1303	-		all_hematologic(541;0.118)	B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	1	1	hg19	c.545C>T	CCDS4272.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.395760	0.96009	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.81247	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.47;-0.86	5.84	5.84	0.93424	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95723	0.8768	10	0.87932	D	0	-14.6887	20.1187	0.97949	0.0:0.0:1.0:0.0	.	148;182	E7EVU7;P46926	.;GNPI1_HUMAN	L	182;182;148;182;182;182;105;203	ENSP00000423494:P182L;ENSP00000311876:P182L;ENSP00000387718:P148L;ENSP00000424275:P182L;ENSP00000423674:P182L;ENSP00000423485:P182L;ENSP00000445143:P105L;ENSP00000421524:P203L	ENSP00000311876:P182L	P	-	2	0	0	GNPDA1	141364730	141364730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_005471			16	16		90	89	1		1	1		0	0	23	0		9.999541e-01	9.999998e-01	0	32	0	157	0	16	90
GNPDA1	10007	broad.mit.edu	37	5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000508177.1	-	4	1192	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	145					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562																																						ENST00000508177.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(433-435)gCc>gTc		glucosamine-6-phosphate deaminase 1							55.0	48.0	50.0					5																	141384657		2203	4300	6503	SO:0001583	missense	10007	0	0					g.chr5:141384657G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.434C>T	chr5.hg19:g.141384657G>A	ENSP00000423674:p.Ala145Val	0					GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V	p.A145V			1	2	3	2.006602	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	4	1192	-		all_hematologic(541;0.118)	B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	1	1	hg19	c.434C>T	CCDS4272.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.492421	0.96339	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	4.97	0.65823	5.84	4.97	0.65823	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	H	0.97659	4.05	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69307	0.831;0.963	D	0.89652	0.3870	10	0.87932	D	0	-15.799	14.9374	0.70967	0.0688:0.0:0.9312:0.0	.	111;145	E7EVU7;P46926	.;GNPI1_HUMAN	V	145;145;111;145;145;145;145;166;145	ENSP00000423494:A145V;ENSP00000311876:A145V;ENSP00000387718:A111V;ENSP00000424275:A145V;ENSP00000423674:A145V;ENSP00000423485:A145V;ENSP00000424625:A145V;ENSP00000421524:A166V;ENSP00000424537:A145V	ENSP00000311876:A145V	A	-	2	0	0	GNPDA1	141364841	141364841	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.477000	0.48234	0.591000	0.81541	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_005471			28	28		91	89	1		1	1		0	0	22	0		1	1	0	47	0	140	0	28	91
SLC6A3	6531	broad.mit.edu	37	5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	363					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GAGAAGACGACGAAGCCGGAG	0.612																																						ENST00000270349.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1087-1089)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 3	Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)						101.0	86.0	91.0					5																	1414875		2203	4299	6502	SO:0001583	missense	6531	1	121350	34				g.chr5:1414875C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1087G>A	chr5.hg19:g.1414875C>T	ENSP00000270349:p.Val363Ile	0					SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	p.V363I	NM_001044.4	NP_001035.1	0	0	0	1.967783	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)	8	1214	-			A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	1	1	hg19	c.1087G>A	CCDS3863.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.443100	0.96187	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75589	-0.95;-0.95	4.09	4.09	0.47781	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.71206	2.165	0.58432	D	0.999999	D	0.63880	0.993	P	0.59595	0.86	D	0.85050	0.0928	10	0.72032	D	0.01	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	363	Q01959	SC6A3_HUMAN	I	363	ENSP00000270349:V363I;ENSP00000399806:V363I	ENSP00000270349:V363I	V	-	1	0	0	SLC6A3	1467875	1467875	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.116000	0.77119	1.837000	0.53436	0.555000	0.69702	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.241771	1	0.170000	NM_001044			53	52		274	267	1		1			0	0	71	0		1	0	0	0	0	0	0	53	274
GNPDA1	10007	broad.mit.edu	37	5	141384674	141384674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000508177.1	-	4	1175	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Silent_p.G105G			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557																																						ENST00000508177.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999226	0.990000	1.000000																										0				6						c.(415-417)ggC>ggT		glucosamine-6-phosphate deaminase 1							49.0	44.0	45.0					5																	141384674		2203	4300	6503	SO:0001819	synonymous_variant	10007	0	0					g.chr5:141384674G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.417C>T	chr5.hg19:g.141384674G>A		0					GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G	p.G139G			1	2	3	2.006602	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	4	1175	-		all_hematologic(541;0.118)	B7Z3X4|D3DQE7	Silent	SNP	ENST00000508177.1	0	1	hg19	c.417C>T	CCDS4272.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_005471			18	18		101	100	1		1	1		0	0	21	0		9.999883e-01	9.999998e-01	0	24	0	153	0	18	101
NDFIP1	80762	broad.mit.edu	37	5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	89					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423																																						ENST00000253814.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(265-267)cCt>cAt		Nedd4 family interacting protein 1							174.0	159.0	164.0					5																	141511891		2203	4300	6503	SO:0001583	missense	80762	0	0					g.chr5:141511891C>A	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.266C>A	chr5.hg19:g.141511891C>A	ENSP00000253814:p.Pro89His	0					NDFIP1_ENST00000509436.1_Intron	p.P89H	NM_030571.3	NP_085048.1	1	2	3	2.006602	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	736	+		all_hematologic(541;0.0999)	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	1	1	hg19	c.266C>A	CCDS4273.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858703	0.91433	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.100365	0.64402	D	0.000001	T	0.79913	0.4528	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80944	-0.1156	9	0.87932	D	0	-15.0688	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9BT67	NFIP1_HUMAN	H	89	.	ENSP00000253814:P89H	P	+	2	0	0	NDFIP1	141492075	141492075	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.338000	0.79269	2.771000	0.95319	0.591000	0.81541	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-3.858018	1	0.170000	NM_030571			118	116		398	389	1		1	1		0	0	122	0		1	1	0	207	0	499	0	118	398
NDFIP1	80762	broad.mit.edu	37	5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	195					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343																																						ENST00000253814.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(583-585)Gga>Tga		Nedd4 family interacting protein 1							89.0	104.0	99.0					5																	141524156		2194	4295	6489	SO:0001587	stop_gained	80762	0	0					g.chr5:141524156G>T	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.583G>T	chr5.hg19:g.141524156G>T	ENSP00000253814:p.Gly195*	0						p.G195*	NM_030571.3	NP_085048.1	1	2	3	2.006602	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	7	1053	+		all_hematologic(541;0.0999)	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Nonsense_Mutation	SNP	ENST00000253814.4	0	1	hg19	c.583G>T	CCDS4273.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.550999	0.99202	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1228	19.5914	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000253814:G195X	G	+	1	0	0	NDFIP1	141504340	141504340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.708000	0.92522	0.563000	0.77884	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	1	0	1		2	2	2	0		0	0	134		134	132	1	2.060000	-3.150098	1	0.170000	NM_030571			134	132		655	643	1		1	1		0	0	134	0		1	1	0	24	0	603	0	134	655
NR3C1	2908	broad.mit.edu	37	5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I	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)	671	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				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)			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)	GAAGAGAGAAGCAGTAAGGTT	0.363																																						ENST00000343796.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2011-2013)Ctt>Att		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	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)						132.0	115.0	121.0					5																	142675037		2203	4300	6503	SO:0001583	missense	2908	0	0					g.chr5:142675037G>T	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.2011C>A	chr5.hg19:g.142675037G>T	ENSP00000343205:p.Leu671Ile	0					NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I	p.L671I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	1	2	3	2.006602	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)	7	3004	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	1	1	hg19	c.2011C>A	CCDS4278.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.091873	0.94149	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.97303	-4.33;-4.33;-0.01;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.63	5.63	0.86233	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.86097	2.795	0.80722	D	1	D;P;D	0.76494	0.998;0.835;0.999	D;P;D	0.97110	1.0;0.891;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	671;671;672	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	671;671;671;645;672;672;672;274;671	ENSP00000377977:L671I;ENSP00000343205:L671I;ENSP00000387672:L671I;ENSP00000405282:L645I;ENSP00000422518:L672I;ENSP00000377979:L672I;ENSP00000231509:L672I;ENSP00000404218:L274I;ENSP00000427672:L671I	ENSP00000231509:L672I	L	-	1	0	0	NR3C1	142655230	142655230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.649000	0.89929	0.585000	0.79938	CTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				53	52		215	213	1		1	1		0	0	49	0		1	9.999950e-01	0	11	0	66	0	53	215
TRIO	7204	broad.mit.edu	37	5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	637					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)			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)					GCTGGCTCAGACTGGGGAATG	0.483																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(1909-1911)Act>Gct		trio Rho guanine nucleotide exchange factor							98.0	91.0	93.0					5																	14336699		2203	4300	6503	SO:0001583	missense	7204	0	0					g.chr5:14336699A>G	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.1909A>G	chr5.hg19:g.14336699A>G	ENSP00000339299:p.Thr637Ala	0					TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	p.T637A	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		11	1933	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	1	1	hg19	c.1909A>G	CCDS3883.1	1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717746	0.68844	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44083	1.03;1.03;0.93	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.35593	1.075	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.79784	0.983;0.993;0.989	T	0.56944	-0.7895	10	0.62326	D	0.03	.	15.0232	0.71647	1.0:0.0:0.0:0.0	.	588;637;637	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	637;637;588;324	ENSP00000339299:T637A;ENSP00000446348:T637A;ENSP00000445592:T588A	ENSP00000339299:T637A	T	+	1	0	0	TRIO	14389699	14389699	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.339000	0.96797	1.946000	0.56461	0.454000	0.30748	ACT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	0	0		14	4	2	1		1	1	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_007118			66	66		264	258	1		1	0		1	0	83	0		1	9.658437e-01	0	0	0	40	0	66	264
TRIO	7204	broad.mit.edu	37	5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	666					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)			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)					TGTTGAGCAGCGAAAGATCCT	0.498																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				118						c.(1996-1998)Cga>Tga		trio Rho guanine nucleotide exchange factor							103.0	89.0	94.0					5																	14336786		2203	4300	6503	SO:0001587	stop_gained	7204	0	0					g.chr5:14336786C>T	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.1996C>T	chr5.hg19:g.14336786C>T	ENSP00000339299:p.Arg666*	0					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	p.R666*	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		11	2020	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	0	1	hg19	c.1996C>T	CCDS3883.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.039053	0.98624	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.46	4.56	0.56223	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4675	0.61263	0.303:0.697:0.0:0.0	.	.	.	.	X	666;666;617;353	.	ENSP00000339299:R666X	R	+	1	2	2	TRIO	14389786	14389786	1.000000	0.71417	0.775000	0.31657	0.959000	0.62525	3.196000	0.51020	1.211000	0.43351	0.650000	0.86243	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-18.841240	1	0.170000	NM_007118			39	37		231	228	1		1	1		0	0	54	0		1	9.763445e-01	0	5	0	33	0	39	231
TRIO	7204	broad.mit.edu	37	5	14369491	14369491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					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)			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)					AGGTCTGCAGCGTCCTCGAGA	0.587																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				118						c.(3073-3075)agC>agT		trio Rho guanine nucleotide exchange factor							67.0	71.0	70.0					5																	14369491		2203	4300	6503	SO:0001819	synonymous_variant	7204	1	121410	32				g.chr5:14369491C>T	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.3075C>T	chr5.hg19:g.14369491C>T		0					TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	p.S1025S	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		18	3099	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	1	1	hg19	c.3075C>T	CCDS3883.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-19.999970	1	0.170000	NM_007118			51	50		290	286	1		1	1		0	0	63	0		1	9.980171e-01	0	3	0	53	0	51	290
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					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)			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)					GGTGAAACTTCGAGATGCTGC	0.433																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(3826-3828)Cga>Tga		trio Rho guanine nucleotide exchange factor							71.0	75.0	74.0					5																	14387901		2203	4300	6503	SO:0001587	stop_gained	7204	0	0					g.chr5:14387901C>T	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.3826C>T	chr5.hg19:g.14387901C>T	ENSP00000339299:p.Arg1276*	0					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	p.R1276*	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		23	3850	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	0	1	hg19	c.3826C>T	CCDS3883.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.396506	0.99397	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9732	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1276;1227;963	.	ENSP00000339299:R1276X	R	+	1	2	2	TRIO	14440901	14440901	0.999000	0.42202	0.947000	0.38551	0.998000	0.95712	2.755000	0.47540	2.740000	0.93945	0.650000	0.86243	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_007118			49	49		180	175	1		1	1		0	0	63	0		1	9.998769e-01	0	4	0	49	0	49	180
TRIO	7204	broad.mit.edu	37	5	14406776	14406776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	ENST00000344204.4	+	33	4978	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1652					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)			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)					GCTGGACAGCGATAAGGTGAG	0.572																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(4954-4956)Gat>Aat		trio Rho guanine nucleotide exchange factor							86.0	74.0	78.0					5																	14406776		2203	4300	6503	SO:0001583	missense	7204	1	121412	30				g.chr5:14406776G>A	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.4954G>A	chr5.hg19:g.14406776G>A	ENSP00000339299:p.Asp1652Asn	0					TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	p.D1652N	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		33	4978	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	1	1	hg19	c.4954G>A	CCDS3883.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320191	0.81469	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.13657	2.57;2.57	5.47	5.47	0.80525	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.68952	2.095	0.80722	D	1	P;D	0.76494	0.625;0.999	B;D	0.75020	0.194;0.985	T	0.06516	-1.0822	10	0.59425	D	0.04	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1652;1652	O75962-5;O75962	.;TRIO_HUMAN	N	1652;1652;1339	ENSP00000339299:D1652N;ENSP00000446348:D1652N	ENSP00000339299:D1652N	D	+	1	0	0	TRIO	14459776	14459776	1.000000	0.71417	0.403000	0.26384	0.736000	0.42039	9.826000	0.99387	2.571000	0.86741	0.650000	0.86243	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_007118			91	87		294	288	0		1	1		0	0	72	0		1	9.996683e-01	0	9	0	32	0	91	294
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	C	T	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2. {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 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)			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)					TTGAGCAGATCGTCATATTCA	0.478																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(6580-6582)atC>atT		trio Rho guanine nucleotide exchange factor		C		0,4406		0,0,2203	124.0	119.0	121.0		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7204	5	121412	40				g.chr5:14482807C>T	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.6582C>T	chr5.hg19:g.14482807C>T		0					TRIO_ENST00000537187.1_Silent_p.I2194I	p.I2194I	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		46	6606	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	1	1	hg19	c.6582C>T	CCDS3883.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-20.000000	1	0.170000	NM_007118			99	98		501	494	1		1	1		0	0	102	0		1	9.999973e-01	0	5	0	88	0	99	501
TRIO	7204	broad.mit.edu	37	5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2276					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)			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)					AGCGCAATTTTTTAAATGGTA	0.383																																						ENST00000344204.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				118						c.(6826-6828)ttT>ttG		trio Rho guanine nucleotide exchange factor							66.0	69.0	68.0					5																	14485348		2203	4300	6503	SO:0001583	missense	7204	0	0					g.chr5:14485348T>G	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.6828T>G	chr5.hg19:g.14485348T>G	ENSP00000339299:p.Phe2276Leu	0					TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	p.F2276L	NM_007118.2	NP_009049.2	0	0	0	1.967783	O75962	TRIO_HUMAN		47	6852	+	Lung NSC(4;0.000742)		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	1	1	hg19	c.6828T>G	CCDS3883.1	1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199716	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.39229	1.09;1.09	5.34	5.34	0.76211	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.64080	1.96	0.47374	D	0.999408	D;D	0.64830	0.994;0.992	P;D	0.69654	0.855;0.965	T	0.52540	-0.8562	10	0.11794	T	0.64	.	11.2948	0.49272	0.0:0.073:0.0:0.927	.	2276;2276	O75962-5;O75962	.;TRIO_HUMAN	L	2276;2276;1963	ENSP00000339299:F2276L;ENSP00000446348:F2276L	ENSP00000339299:F2276L	F	+	3	2	2	TRIO	14538348	14538348	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.046000	0.41260	2.023000	0.59567	0.528000	0.53228	TTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	0		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_007118			81	81		323	315	1		1	0		0	0	86	0		1	1	0	1	0	102	0	81	323
NR3C1	2908	broad.mit.edu	37	5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y	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)	404	Glu/Pro/Ser/Thr-rich (PEST region).|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)			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)	GGATGGAGGAGAGCTTACATC	0.448																																						ENST00000343796.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1210-1212)tCt>tAt		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	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)						170.0	153.0	159.0					5																	142693707		2203	4300	6503	SO:0001583	missense	2908	0	0					g.chr5:142693707G>T	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.1211C>A	chr5.hg19:g.142693707G>T	ENSP00000343205:p.Ser404Tyr	0					NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y	p.S404Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	1	2	3	2.006602	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)	3	2204	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	1	1	hg19	c.1211C>A	CCDS4278.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456715	0.84317	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.86230	-1.68;-1.68;-1.63;-1.73;-1.68;-1.68;-1.68;-2.09;-1.68	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.119693	0.64402	D	0.000013	D	0.91835	0.7416	L	0.48877	1.53	0.46336	D	0.998995	D;D;D	0.71674	0.994;0.998;0.993	P;D;P	0.78314	0.825;0.991;0.866	D	0.91925	0.5550	10	0.66056	D	0.02	.	19.8658	0.96803	0.0:0.0:1.0:0.0	.	404;404;404	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	404;404;404;404;378;404;404;404;7;404	ENSP00000377977:S404Y;ENSP00000343205:S404Y;ENSP00000387672:S404Y;ENSP00000405282:S378Y;ENSP00000422518:S404Y;ENSP00000377979:S404Y;ENSP00000231509:S404Y;ENSP00000404218:S7Y;ENSP00000427672:S404Y	ENSP00000231509:S404Y	S	-	2	0	0	NR3C1	142673900	142673900	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.363000	0.73082	2.696000	0.92011	0.650000	0.86243	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				39	37		159	156	1		1	1		0	0	36	0		1	9.999999e-01	0	10	0	99	0	39	159
SH3RF2	153769	broad.mit.edu	37	5	145393591	145393591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	342					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552																																						ENST00000511217.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1024-1026)gaG>gaA		SH3 domain containing ring finger 2							99.0	98.0	98.0					5																	145393591		2203	4300	6503	SO:0001819	synonymous_variant	153769	0	0					g.chr5:145393591G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1026G>A	chr5.hg19:g.145393591G>A		0					SH3RF2_ENST00000359120.4_Silent_p.E342E	p.E342E			1	2	3	2.006602	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	1078	+			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	1	1	hg19	c.1026G>A	CCDS4280.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_152550			101	100		488	484	1		1	1		0	0	143	0		1	9.415683e-01	0	14	0	11	0	101	488
LARS	51520	broad.mit.edu	37	5	145509704	145509704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000545646.1_Silent_p.Y789Y|LARS_ENST00000510191.1_Silent_p.Y781Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	835					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)			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)	CCAATTCACGGTACTTATCTT	0.378																																						ENST00000394434.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2503-2505)taC>taT		leucyl-tRNA synthetase	L-Leucine(DB00149)						97.0	89.0	91.0					5																	145509704		2203	4300	6503	SO:0001819	synonymous_variant	51520	0	0					g.chr5:145509704G>A	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.2505C>T	chr5.hg19:g.145509704G>A		0					LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000545646.1_Silent_p.Y789Y	p.Y835Y	NM_020117.9	NP_064502.9	1	2	3	2.006602	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	25	2671	-			A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	1	1	hg19	c.2505C>T	CCDS34265.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_020117			61	61		356	352	1		1	1		0	0	78	0		1	1	0	33	0	134	0	61	356
RBM27	54439	broad.mit.edu	37	5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	974					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)			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)			GTGGACCATCGTCCCAAAGCA	0.468																																						ENST00000265271.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2920-2922)cGt>cAt		RNA binding motif protein 27							147.0	143.0	144.0					5																	145651170		1568	3582	5150	SO:0001583	missense	54439	1	120420	34				g.chr5:145651170G>A	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.2921G>A	chr5.hg19:g.145651170G>A	ENSP00000265271:p.Arg974His	0					RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	p.R974H	NM_018989.1	NP_061862.1	1	2	3	2.006602	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	19	3087	+			Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	1	1	hg19	c.2921G>A	CCDS43378.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.228901	0.95173	.	.	ENSG00000091009	ENST00000265271	D	0.83075	-1.68	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.92034	0.7476	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93196	0.6587	10	0.87932	D	0	-6.646	18.7687	0.91882	0.0:0.0:1.0:0.0	.	974	Q9P2N5	RBM27_HUMAN	H	974	ENSP00000265271:R974H	ENSP00000265271:R974H	R	+	2	0	0	RBM27	145631363	145631363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.005000	0.93587	2.517000	0.84864	0.650000	0.86243	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.095139	1	0.170000	XM_291128			58	56		297	295	1		1	1		0	0	62	0		1	9.999993e-01	0	29	0	80	0	58	297
POU4F3	5459	broad.mit.edu	37	5	145719317	145719317	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145719317C>T	ENST00000230732.4	+	2	416	c.327C>T	c.(325-327)caC>caT	p.H109H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	109					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)			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)			ACCCTCACCACGCCGTGCACC	0.677																																						ENST00000230732.4	1.000000	0.100000	3.500000e-01	1.600000e-01	0.230000	0.298733	0.230000	0.220000																										0				17						c.(325-327)caC>caT		POU class 4 homeobox 3							127.0	109.0	115.0					5																	145719317		2203	4300	6503	SO:0001819	synonymous_variant	5459	0	0					g.chr5:145719317C>T	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.327C>T	chr5.hg19:g.145719317C>T		0					CTC-359M8.1_ENST00000515598.1_RNA	p.H109H	NM_002700.2	NP_002691.1	1	2	3	2.006602	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	2	416	+			O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	0	1	hg19	c.327C>T	CCDS4281.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	0	0	0		2	2	2	0		0	0	90		90	89	1	2.060000	-7.598997	1	0.170000	NM_002700			8	8		423	419	0		1			0	0	90	0		9.891037e-01	0	0	0	0	0	0	8	423
TCERG1	10915	broad.mit.edu	37	5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-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)			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)			ccaggcccaggcccaggccca	0.726																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(655-657)Gcc>Acc		transcription elongation regulator 1							11.0	15.0	14.0					5																	145838663		2194	4281	6475	SO:0001583	missense	10915	0	0					g.chr5:145838663G>A	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.655G>A	chr5.hg19:g.145838663G>A	ENSP00000296702:p.Ala219Thr	0					TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	p.A219T	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	693	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	1	1	hg19	c.655G>A	CCDS4282.1	1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467777	0.04476	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	3.14	3.14	0.36123	3.14	3.14	0.36123	.	0.000000	0.48767	D	0.000167	T	0.20577	0.0495	N	0.19112	0.55	0.26706	N	0.971071	B;B;B	0.21225	0.053;0.007;0.004	B;B;B	0.10450	0.005;0.002;0.001	T	0.12708	-1.0537	10	0.11794	T	0.64	-1.3402	12.081	0.53671	0.0:0.0:1.0:0.0	.	219;219;219	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	219	ENSP00000296702:A219T;ENSP00000377943:A219T	ENSP00000296702:A219T	A	+	1	0	0	TCERG1	145818856	145818856	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	2.966000	0.49208	1.721000	0.51461	0.462000	0.41574	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-20.000000	1	0.170000	NM_001040006			49	49		227	223	0		1	1		0	0	39	0		1	8.030259e-01	0	13	0	3	0	49	227
TCERG1	10915	broad.mit.edu	37	5	145838887	145838887	+	Silent	SNP	G	G	A	rs371433599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	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)			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)			CTTCAGTTGCGCAGACAGTAT	0.468																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(877-879)gcG>gcA		transcription elongation regulator 1							155.0	143.0	147.0					5																	145838887		2203	4300	6503	SO:0001819	synonymous_variant	10915	1	121412	35				g.chr5:145838887G>A	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.879G>A	chr5.hg19:g.145838887G>A		0					TCERG1_ENST00000394421.2_Silent_p.A293A	p.A293A	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	917	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	1	1	hg19	c.879G>A	CCDS4282.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1		15	4	2	1		1	1	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_001040006			125	124		531	520	1		1	1		1	0	159	0		1	9.999428e-01	0	4	0	80	0	125	531
TCERG1	10915	broad.mit.edu	37	5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	301	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)			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)			AGCACCCACAACACAAGATCA	0.388																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(901-903)Aca>Gca		transcription elongation regulator 1							191.0	189.0	190.0					5																	145843122		2203	4300	6503	SO:0001583	missense	10915	0	0					g.chr5:145843122A>G	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.901A>G	chr5.hg19:g.145843122A>G	ENSP00000296702:p.Thr301Ala	0					TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	p.T301A	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	5	939	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	1	1	hg19	c.901A>G	CCDS4282.1	1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196428	0.38806	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.59	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.158654	0.47093	D	0.000244	T	0.18257	0.0438	L	0.27053	0.805	0.33838	D	0.631074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19353	-1.0308	10	0.07325	T	0.83	-7.9798	9.8517	0.41061	0.9233:0.0:0.0767:0.0	.	301;301;301	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	301	ENSP00000296702:T301A;ENSP00000377943:T301A	ENSP00000296702:T301A	T	+	1	0	0	TCERG1	145823315	145823315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	2.027000	0.59764	0.460000	0.39030	ACA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1		2	2	2	0		0	0	173		173	171	1	2.060000	-20.000000	1	0.170000	NM_001040006			147	147		803	779	1		1	1		0	0	173	0		1	9.999801e-01	0	9	0	75	0	147	803
TCERG1	10915	broad.mit.edu	37	5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	439	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			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)			CTGAATATAAAACAGCAGATG	0.393																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1315-1317)aaA>aaC		transcription elongation regulator 1							123.0	137.0	132.0					5																	145849225		2203	4300	6503	SO:0001583	missense	10915	0	0					g.chr5:145849225A>C	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.1317A>C	chr5.hg19:g.145849225A>C	ENSP00000296702:p.Lys439Asn	0					TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	p.K439N	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	1355	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	1	1	hg19	c.1317A>C	CCDS4282.1	1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047626	0.55110	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.82526	-1.62;-1.62	5.71	2.04	0.26737	5.71	2.04	0.26737	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.62209	1.925	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.989;0.991	D;D;D	0.85130	0.997;0.978;0.987	D	0.85526	0.1206	10	0.72032	D	0.01	-21.9365	9.2165	0.37351	0.7945:0.0:0.2055:0.0	.	418;418;439	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	439;418	ENSP00000296702:K439N;ENSP00000377943:K418N	ENSP00000296702:K439N	K	+	3	2	2	TCERG1	145829418	145829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.119000	0.18210	0.460000	0.39030	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	0		2	2	2	0		0	0	192		192	190	1	2.060000	-20.000000	1	0.170000	NM_001040006			196	194		842	823	1		1	1		0	0	192	0		1	9.999807e-01	0	29	0	38	0	196	842
TCERG1	10915	broad.mit.edu	37	5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	442	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			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)			TAAAACAGCAGATGGGAAGAC	0.383																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1324-1326)Gat>Aat		transcription elongation regulator 1							111.0	125.0	120.0					5																	145849232		2203	4300	6503	SO:0001583	missense	10915	0	0					g.chr5:145849232G>A	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.1324G>A	chr5.hg19:g.145849232G>A	ENSP00000296702:p.Asp442Asn	0					TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	p.D442N	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	1362	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	1	1	hg19	c.1324G>A	CCDS4282.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795679	0.90453	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.48877	1.53	0.80722	D	1	D;D;D	0.59767	0.986;0.965;0.972	P;P;P	0.61800	0.894;0.558;0.685	D	0.87553	0.2466	10	0.52906	T	0.07	-21.2535	19.8493	0.96733	0.0:0.0:1.0:0.0	.	421;421;442	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	442;421	ENSP00000296702:D442N;ENSP00000377943:D421N	ENSP00000296702:D442N	D	+	1	0	0	TCERG1	145829425	145829425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	0		2	2	2	0		0	0	186		186	184	1	2.060000	-20.000000	1	0.170000	NM_001040006			199	193		778	765	1		1	1		0	0	186	0		1	9.999783e-01	0	3	0	58	0	199	778
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	769	FF 2.				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)			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)			GATGAAAGACCGAGAAGCCTT	0.393																																						ENST00000296702.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2305-2307)Cga>Tga		transcription elongation regulator 1							109.0	112.0	111.0					5																	145878172		2203	4300	6503	SO:0001587	stop_gained	10915	0	0					g.chr5:145878172C>T	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.2305C>T	chr5.hg19:g.145878172C>T	ENSP00000296702:p.Arg769*	0					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	p.R769*	NM_006706.3	NP_006697.2	1	2	3	2.006602	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	16	2343	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	0	1	hg19	c.2305C>T	CCDS4282.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.176446	0.98114	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.51	1.38	0.22167	5.51	1.38	0.22167	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5545	15.1655	0.72821	0.4949:0.5051:0.0:0.0	.	.	.	.	X	769;748	.	ENSP00000296702:R769X	R	+	1	2	2	TCERG1	145858365	145858365	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.224000	0.32539	0.017000	0.15025	0.655000	0.94253	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.993439	1	0.170000	NM_001040006			41	41		159	156	1		1	1		0	0	58	0		1	1	0	10	0	115	0	41	159
FAM105A	54491	broad.mit.edu	37	5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393																																						ENST00000274217.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(214-216)aAg>aGg		family with sequence similarity 105, member A							182.0	172.0	175.0					5																	14601224		2203	4300	6503	SO:0001583	missense	54491	0	0					g.chr5:14601224A>G		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.215A>G	chr5.hg19:g.14601224A>G	ENSP00000274217:p.Lys72Arg	0						p.K72R	NM_019018.2	NP_061891.1	0	0	0	1.967783	Q9NUU6	F105A_HUMAN		2	335	+	Lung NSC(4;0.00592)		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	1	1	hg19	c.215A>G	CCDS3884.1	1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694862	0.00731	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	5.35	-0.0825	0.13697	5.35	-0.0825	0.13697	.	0.956413	0.08727	N	0.902566	T	0.04588	0.0125	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	10	0.07175	T	0.84	-3.3211	4.9693	0.14108	0.4692:0.0:0.384:0.1468	.	72	Q9NUU6	F105A_HUMAN	R	72	ENSP00000274217:K72R	ENSP00000274217:K72R	K	+	2	0	0	FAM105A	14654224	14654224	0.229000	0.23729	0.020000	0.16555	0.167000	0.22549	1.067000	0.30616	-0.256000	0.09473	-0.408000	0.06270	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	1	0	1		2	2	2	0		0	0	163		163	158	1	2.060000	-20.000000	1	0.170000	NM_019018			117	112		629	612	1		1	1		0	0	163	0		1	9.999941e-01	0	2	0	90	0	117	629
GPR151	134391	broad.mit.edu	37	5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502													G|||	6	0.00119808	0.0045	0.0	5008	,	,		22339	0.0		0.0	False		,,,				2504	0.0				Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(289-291)aCg>aTg		G protein-coupled receptor 151		G	MET/THR	8,4398	15.5+/-35.6	0,8,2195	124.0	122.0	122.0		290	3.1	0.8	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense	GPR151	NM_194251.2	81	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	possibly-damaging	97/420	145895387	8,12998	2203	4300	6503	SO:0001583	missense	134391	27	121412	48				g.chr5:145895387G>A	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.290C>T	chr5.hg19:g.145895387G>A	ENSP00000308733:p.Thr97Met	0						p.T97M	NM_194251.2	NP_919227.2	1	2	3	2.006602	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	366	-			Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	1	1	hg19	c.290C>T	CCDS34266.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.28	1.592329	0.28357	0.001816	0.0	ENSG00000173250	ENST00000311104	T	0.72835	-0.69	5.88	3.07	0.35406	5.88	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.173248	0.49305	D	0.000160	T	0.63414	0.2509	L	0.43152	1.355	0.28914	N	0.892557	P	0.48694	0.914	P	0.44732	0.459	T	0.60342	-0.7282	10	0.56958	D	0.05	.	9.0746	0.36513	0.2537:0.0:0.7463:0.0	.	97	Q8TDV0	GP151_HUMAN	M	97	ENSP00000308733:T97M	ENSP00000308733:T97M	T	-	2	0	0	GPR151	145875580	145875580	0.989000	0.36119	0.829000	0.32907	0.275000	0.26752	2.436000	0.44819	0.349000	0.23975	-0.140000	0.14226	ACG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.231097	1	0.170000	NM_194251			72	71		285	276	1		1			0	0	79	0		1	0	0	0	0	0	0	72	285
OTULIN	90268	broad.mit.edu	37	5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		297	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTTGCCTATGCTGTGCGCCAC	0.507																																						ENST00000284274.4	0.540000	0.190000	4.400000e-01	2.600000e-01	0.340000	0.356498	0.340000	0.330000																										0				14						c.(889-891)gCt>gAt									151.0	153.0	153.0					5																	14692988		2046	4198	6244	SO:0001583	missense	0	0	0					g.chr5:14692988C>A																												ENST00000284274.4:c.890C>A	chr5.hg19:g.14692988C>A	ENSP00000284274:p.Ala297Asp	0						p.A297D	NM_138348.4	NP_612357.4	0	0	0	1.967783	Q96BN8	OTUL_HUMAN		7	968	+	Lung NSC(4;0.00696)		D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	1	1	hg19	c.890C>A	CCDS43302.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.366881|5.366881	0.95900|0.95900	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19669|.	2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.052923|.	0.85682|.	D|.	0.000000|.	T|.	0.76183|.	0.3952|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.74340|.	-0.3697|.	10|.	0.72032|.	D|.	0.01|.	-15.212|-15.212	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q96BN8|.	F105B_HUMAN|.	D|X	297|28	ENSP00000284274:A297D|.	ENSP00000284274:A297D|.	A|C	+|+	2|3	0|2	0|2	FAM105B|FAM105B	14745988|14745988	14745988|14745988	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.488000|7.488000	0.81441|0.81441	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GCT|TGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1	0	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-2.978485	1	0.170000				14	14		466	457	0		1	1		0	0	112	0		9.997227e-01	3.615402e-01	0	4	0	37	0	14	466
STK32A	202374	broad.mit.edu	37	5	146703542	146703542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000397936.3	+	5	675	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000398523.3_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			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)			ACCTGCAACAGAACGTCCACT	0.498																																						ENST00000397936.3	1.000000	0.550000	1	7.700000e-01	0.990000	0.916674	0.990000	1.000000																										0				13						c.(340-342)caG>caA		serine/threonine kinase 32A							66.0	70.0	68.0					5																	146703542		2156	4290	6446	SO:0001819	synonymous_variant	202374	0	0					g.chr5:146703542G>A		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.342G>A	chr5.hg19:g.146703542G>A		0					STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398523.3_Silent_p.Q114Q	p.Q114Q	NM_001112724.1	NP_001106195.1	1	2	3	2.006602	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	5	675	+			B3KSY0	Silent	SNP	ENST00000397936.3	1	1	hg19	c.342G>A	CCDS47299.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-16.515800	1	0.170000	NM_145001			11	11		118	118	1		1	1		0	0	33	0		9.985739e-01	6.752393e-01	0	11	0	15	0	11	118
JAKMIP2	9832	broad.mit.edu	37	5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	743						Golgi apparatus (GO:0005794)				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)			GCTCCTCTTGCTGTTTTTCAC	0.423																																						ENST00000265272.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2227-2229)caG>caT		janus kinase and microtubule interacting protein 2							163.0	148.0	153.0					5																	146997591		2203	4300	6503	SO:0001583	missense	9832	0	0					g.chr5:146997591C>A	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.2229G>T	chr5.hg19:g.146997591C>A	ENSP00000265272:p.Gln743His	0					JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H	p.Q743H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	1	2	3	2.006602	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	19	2696	-			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	1	1	hg19	c.2229G>T	CCDS4285.1	1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567737	0.65651	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.7	5.61	1.85	0.25348	5.61	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.65498	2.005	0.50313	D	0.999864	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;B	0.44990	0.466;0.466;0.466;0.371	T	0.06041	-1.0849	10	0.66056	D	0.02	.	8.6976	0.34305	0.0:0.5699:0.0:0.4301	.	701;743;722;743	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	722;743;701;722	ENSP00000421398:Q722H;ENSP00000265272:Q743H;ENSP00000328989:Q701H	ENSP00000265272:Q743H	Q	-	3	2	2	JAKMIP2	146977784	146977784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.415000	0.25817	0.563000	0.77884	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_014790			80	80		411	404	1		1	0		0	0	101	0		1	5.043436e-01	0	0	0	10	0	80	411
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus (GO:0005794)				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)			ATCAGTTCATCGTTTCTCTTG	0.433																																						ENST00000265272.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1012-1014)Gat>Aat		janus kinase and microtubule interacting protein 2							207.0	198.0	201.0					5																	147024484		2203	4300	6503	SO:0001583	missense	9832	1	121412	37				g.chr5:147024484C>T	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.1012G>A	chr5.hg19:g.147024484C>T	ENSP00000265272:p.Asp338Asn	0					JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N	p.D338N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	1	2	3	2.006602	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	6	1479	-			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	1	1	hg19	c.1012G>A	CCDS4285.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.436271	0.96168	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82711	-1.64;-1.64;-1.64	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.90640	0.4574	10	0.66056	D	0.02	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	296;338;338;338	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	N	338;338;296;338	ENSP00000421398:D338N;ENSP00000265272:D338N;ENSP00000328989:D296N	ENSP00000265272:D338N	D	-	1	0	0	JAKMIP2	147004677	147004677	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	7.412000	0.80091	2.746000	0.94184	0.591000	0.81541	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.502859	1	0.170000	NM_014790			127	124		513	501	1		1	0		0	0	83	0		1	1.035519e-01	0	0	0	3	0	127	513
JAKMIP2	9832	broad.mit.edu	37	5	147030054	147030054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	228						Golgi apparatus (GO:0005794)				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)			CTGTCTGGGTCTCCAGTTCCT	0.443																																						ENST00000265272.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(682-684)gaG>gaA		janus kinase and microtubule interacting protein 2							102.0	99.0	100.0					5																	147030054		2203	4300	6503	SO:0001819	synonymous_variant	9832	0	0					g.chr5:147030054C>T	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.684G>A	chr5.hg19:g.147030054C>T		0					JAKMIP2_ENST00000507386.1_Silent_p.E228E|JAKMIP2_ENST00000333010.6_Silent_p.E186E	p.E228E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	1	2	3	2.006602	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	4	1151	-			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	1	1	hg19	c.684G>A	CCDS4285.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.292987	1	0.170000	NM_014790			65	63		301	295	1		1	0		0	0	52	0		1	8.572387e-02	0	0	0	3	0	65	301
JAKMIP2	9832	broad.mit.edu	37	5	147040937	147040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	67						Golgi apparatus (GO:0005794)				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)			TCACCAGCACCGTGTGCTTGC	0.493																																						ENST00000265272.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(199-201)acG>acA		janus kinase and microtubule interacting protein 2							145.0	134.0	137.0					5																	147040937		2203	4300	6503	SO:0001819	synonymous_variant	9832	0	0					g.chr5:147040937C>T	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.201G>A	chr5.hg19:g.147040937C>T		0					JAKMIP2_ENST00000507386.1_Silent_p.T67T|JAKMIP2_ENST00000333010.6_Silent_p.T25T	p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	1	2	3	2.006602	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	668	-			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	1	1	hg19	c.201G>A	CCDS4285.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-2.593579	1	0.170000	NM_014790			175	173		765	759	1		1	0		0	0	136	0		1	1.603921e-01	0	0	0	4	0	175	765
SPINK5	11005	broad.mit.edu	37	5	147486674	147486674	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000256084.7	+	17	1596	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000398454.1_Silent_p.R518R|SPINK5_ENST00000359874.3_Silent_p.R518R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	518	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)			ATCCTGTCCGTGGCCCAGATG	0.463																																						ENST00000256084.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1552-1554)cgT>cgC		serine peptidase inhibitor, Kazal type 5							159.0	156.0	157.0					5																	147486674		2022	4183	6205	SO:0001819	synonymous_variant	11005	0	0					g.chr5:147486674T>C	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.1554T>C	chr5.hg19:g.147486674T>C		0					SPINK5_ENST00000359874.3_Silent_p.R518R|SPINK5_ENST00000398454.1_Silent_p.R518R	p.R518R	NM_006846.3	NP_006837.2	1	2	3	2.006602	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	17	1596	+			A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	1	1	hg19	c.1554T>C	CCDS43382.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	0	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-20.000000	1	0.170000	NM_001127698			134	132		495	486	1		1	1		0	0	120	0		1	2.910384e-01	0	2	0	3	0	134	495
SPINK5	11005	broad.mit.edu	37	5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A	rs182767534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000256084.7	+	21	2003	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H|SPINK5_ENST00000359874.3_Missense_Mutation_p.R654H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	654	Kazal-like 10. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)			GATCCTGTGCGTGGCCCAGAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17259	0.001		0.0	False		,,,				2504	0.0					ENST00000256084.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1960-1962)cGt>cAt		serine peptidase inhibitor, Kazal type 5							81.0	79.0	79.0					5																	147493998		1912	4137	6049	SO:0001583	missense	11005	10	120846	40				g.chr5:147493998G>A	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.1961G>A	chr5.hg19:g.147493998G>A	ENSP00000256084:p.Arg654His	0					SPINK5_ENST00000359874.3_Missense_Mutation_p.R654H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H	p.R654H	NM_006846.3	NP_006837.2	1	2	3	2.006602	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	21	2003	+			A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	1	1	hg19	c.1961G>A	CCDS43382.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102952	0.76983	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.42	4.54	0.55810	5.42	4.54	0.55810	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.304457	0.26450	N	0.024303	T	0.17280	0.0415	M	0.69823	2.125	0.28078	N	0.932309	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.01001	-1.1485	10	0.59425	D	0.04	-22.2517	9.4175	0.38530	0.0952:0.0:0.9048:0.0	.	635;654;654;654	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	654;654;635;654	ENSP00000381472:R654H;ENSP00000352936:R654H;ENSP00000421519:R635H;ENSP00000256084:R654H	ENSP00000256084:R654H	R	+	2	0	0	SPINK5	147474191	147474191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.543000	0.36147	2.703000	0.92315	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_001127698			50	51		215	211	1		1	1		0	0	60	0		1	1.683353e-01	0	3	0	1	0	50	215
SPINK13	153218	broad.mit.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D|SPINK13_ENST00000511106.1_5'UTR			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2					negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408																																						ENST00000512953.1	1.000000	0.270000	5.200000e-01	3.300000e-01	0.410000	0.456475	0.410000	0.400000																										0				5						c.(4-6)gCt>gAt		serine peptidase inhibitor, Kazal type 13 (putative)							228.0	208.0	214.0					5																	147649640		1858	4095	5953	SO:0001583	missense	153218	0	0					g.chr5:147649640C>A		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	chr5.hg19:g.147649640C>A	ENSP00000421048:p.Ala2Asp	0					SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D	p.A2D			1	2	3	2.006602	Q1W4C9	ISK13_HUMAN		3	536	+			A1A4Y2	Missense_Mutation	SNP	ENST00000512953.1	1	1	hg19	c.5C>A	CCDS43383.1	0	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	0	SPINK13	147629833	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	0	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-3.737327	1	0.170000	NM_001040129.2			28	29		796	785	0		1	0		0	0	158	0		1	1.273602e-03	0	0	0	2	0	28	796
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448																																						ENST00000340253.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									ATG4C/FBXO38(2)	0				51						c.(370-372)gaG>gaA		F-box protein 38							143.0	136.0	138.0					5																	147781654		2203	4299	6502	SO:0001819	synonymous_variant	81545	0	0					g.chr5:147781654G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	chr5.hg19:g.147781654G>A		0					FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E	p.E124E			1	2	3	2.006602	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	4	540	+			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	1	1	hg19	c.372G>A		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-20.000000	1	0.170000	NM_030793			98	96		484	478	1		1	1		0	0	140	0		1	9.994340e-01	0	15	0	41	0	98	484
FBXO38	81545	broad.mit.edu	37	5	147807242	147807242	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147807242A>G	ENST00000340253.5	+	15	2553	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Silent_p.E795E|CTD-2283N19.1_ENST00000520980.2_RNA			Q6PIJ6	FBX38_HUMAN	F-box protein 38	795					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGAGGAACGTCCTTCAA	0.572																																						ENST00000340253.5	1.000000	0.130000	5.000000e-01	2.100000e-01	0.320000	0.382014	0.320000	0.290000																									ATG4C/FBXO38(2)	0				51						c.(2383-2385)gaA>gaG		F-box protein 38							54.0	48.0	50.0					5																	147807242		2203	4300	6503	SO:0001819	synonymous_variant	81545	0	0					g.chr5:147807242A>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2385A>G	chr5.hg19:g.147807242A>G		0					CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Silent_p.E795E	p.E795E			1	2	3	2.006602	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	15	2553	+			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	0	1	hg19	c.2385A>G		0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	0	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-7.632312	1	0.170000	NM_030793			6	6		236	229	0		1	0		0	0	49	0		9.617686e-01	5.044023e-01	0	0	0	62	0	6	236
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q|FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353																																						ENST00000340253.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									ATG4C/FBXO38(2)	0				51						c.(3208-3210)cGa>cAa		F-box protein 38							43.0	47.0	46.0					5																	147820025		2202	4300	6502	SO:0001583	missense	81545	1	121408	27				g.chr5:147820025G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3209G>A	chr5.hg19:g.147820025G>A	ENSP00000342023:p.Arg1070Gln	0					FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q	p.R1070Q			1	2	3	2.006602	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	20	3377	+			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	1	1	hg19	c.3209G>A		1	.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	0	FBXO38	147800218	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.272958	1	0.170000	NM_030793			58	55		246	243	1		1	1		0	0	74	0		1	9.999996e-01	0	18	0	78	0	58	246
HTR4	3360	broad.mit.edu	37	5	147845485	147845485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521735.1_Silent_p.G360G|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521530.1_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					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)			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)	CAGGGGAACAGCCACTTTTAG	0.428																																					GBM(120;370 1604 14007 17804 41573)	ENST00000314512.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1078-1080)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)						143.0	160.0	154.0					5																	147845485		2203	4300	6503	SO:0001819	synonymous_variant	3360	0	0					g.chr5:147845485G>A	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	ENST00000314512.6:c.1080C>T	chr5.hg19:g.147845485G>A		0					HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Silent_p.G360G	p.G360G	NM_199453.3	NP_955525.1	1	2	3	2.006602	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	7	1243	-			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000314512.6	1	1	hg19	c.1080C>T	CCDS34271.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	1	0	1		2	2	2	0		0	0	205		205	204	1	2.060000	-20.000000	1	0.170000	NM_000870			143	137		747	726	1		1			0	0	205	0		1	0	0	0	0	0	0	143	747
HTR4	3360	broad.mit.edu	37	5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000377888.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000360693.3_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	32					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)			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)	CCAAGATGGCCATCAGGATAA	0.537																																					GBM(120;370 1604 14007 17804 41573)	ENST00000377888.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(94-96)atG>atT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)						143.0	102.0	116.0					5																	147929756		2203	4300	6503	SO:0001583	missense	3360	0	0					g.chr5:147929756C>A	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.96G>T	chr5.hg19:g.147929756C>A	ENSP00000367120:p.Met32Ile	0					HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000360693.3_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	p.M32I	NM_000870.5	NP_000861.1	1	2	3	2.006602	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	3	234	-			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	1	1	hg19	c.96G>T	CCDS4291.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131491	0.77549	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;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;2.22	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.24115	0.695	0.52099	D	0.999943	P;B;P;B;P;P;P	0.44690	0.754;0.434;0.459;0.42;0.841;0.749;0.754	B;B;B;B;B;B;B	0.40825	0.184;0.13;0.269;0.312;0.228;0.341;0.184	T	0.05146	-1.0903	10	0.28530	T	0.3	.	17.7437	0.88414	0.0:1.0:0.0:0.0	.	32;32;32;32;32;32;32	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	I	32	ENSP00000428320:M32I;ENSP00000346156:M32I;ENSP00000314906:M32I;ENSP00000430979:M32I;ENSP00000435904:M32I;ENSP00000427913:M32I;ENSP00000367120:M32I;ENSP00000353915:M32I;ENSP00000355037:M32I	ENSP00000314906:M32I	M	-	3	0	0	HTR4	147909949	147909949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.538000	0.85594	0.555000	0.69702	ATG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.545161	1	0.170000	NM_000870			55	54		230	216	1		1			0	0	67	0		1	0	0	0	0	0	0	55	230
SH3TC2	79628	broad.mit.edu	37	5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000515425.1	-	12	3082	c.2981T>G	c.(2980-2982)cTc>cGc	p.L994R	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	994					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)				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)			CCGGTCCCTGAGTTGCTGAGC	0.582																																						ENST00000515425.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2980-2982)cTc>cGc		SH3 domain and tetratricopeptide repeats 2							112.0	116.0	115.0					5																	148406207		2203	4300	6503	SO:0001583	missense	79628	0	0					g.chr5:148406207A>C	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.2981T>G	chr5.hg19:g.148406207A>C	ENSP00000423660:p.Leu994Arg	0					SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R|SH3TC2_ENST00000513340.1_5'Flank	p.L994R	NM_024577.3	NP_078853.2	1	2	3	2.006602	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	12	3082	-			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	1	1	hg19	c.2981T>G	CCDS4293.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.141326|3.141326	0.57044|0.57044	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049|ENST00000394358	T;T;T|T	0.80214|0.72394	-1.07;-1.35;-1.14|-0.65	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	Tetratricopeptide-like helical (1);|.	0.076781|.	0.53938|.	D|.	0.000058|.	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.45581|0.45581	1.43|1.43	0.24075|0.24075	N|N	0.995961|0.995961	D;D;D|P	0.89917|0.43633	1.0;1.0;1.0|0.813	D;D;D|B	0.80764|0.38264	0.994;0.994;0.994|0.269	T|T	0.64659|0.64659	-0.6355|-0.6355	10|9	0.87932|0.87932	D|D	0|0	-9.2116|-9.2116	15.5409|15.5409	0.76048|0.76048	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	987;994;994|915	Q14CC0;E9PDF1;Q8TF17|C9JLC3	.;.;S3TC2_HUMAN|.	R|A	541;994;987|915	ENSP00000441427:L541R;ENSP00000423660:L994R;ENSP00000421860:L987R|ENSP00000377886:S915A	ENSP00000425627:L994R|ENSP00000377886:S915A	L|S	-|-	2|1	0|0	0|0	SH3TC2|SH3TC2	148386400|148386400	148386400|148386400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.054000|7.054000	0.76649|0.76649	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	CTC|TCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	0	0	1		17	2	2	1		1	1	160		160	160	1	2.060000	-20.000000	1	0.170000	NM_024577			163	160		640	631	1		1	1		1	0	160	0		1	5.068078e-01	0	2	0	6	0	163	640
SH3TC2	79628	broad.mit.edu	37	5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000515425.1	-	5	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000538184.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	155					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)				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)			ACTTGGATCTCTGTATCCTCC	0.448																																						ENST00000515425.1	1.000000	0.780000	1	9.100000e-01	0.990000	0.969593	0.990000	1.000000																										0				39						c.(463-465)Gag>Aag		SH3 domain and tetratricopeptide repeats 2							176.0	162.0	167.0					5																	148422323		2203	4300	6503	SO:0001583	missense	79628	0	0					g.chr5:148422323C>T	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.463G>A	chr5.hg19:g.148422323C>T	ENSP00000423660:p.Glu155Lys	0					SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000538184.1_5'Flank	p.E155K	NM_024577.3	NP_078853.2	1	2	3	2.006602	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	5	564	-			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	1	1	hg19	c.463G>A	CCDS4293.1	1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325966	0.24080	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.76968	-1.06;-1.05;-0.72	5.12	3.19	0.36642	5.12	3.19	0.36642	.	0.227351	0.36338	N	0.002644	T	0.63873	0.2548	L	0.31926	0.97	0.38647	D	0.951752	B;B;B	0.34255	0.355;0.445;0.445	B;B;B	0.28638	0.092;0.077;0.077	T	0.65319	-0.6197	10	0.33141	T	0.24	.	12.0414	0.53454	0.0:0.8348:0.0:0.1652	.	40;148;155	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	155;148;40	ENSP00000423660:E155K;ENSP00000421860:E148K;ENSP00000377886:E40K	ENSP00000313025:E155K	E	-	1	0	0	SH3TC2	148402516	148402516	0.930000	0.31532	0.955000	0.39395	0.270000	0.26580	1.869000	0.39519	1.380000	0.46344	0.655000	0.94253	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-12.857220	1	0.170000	NM_024577			43	43		440	435	0		1	0		0	0	90	0		1	8.400153e-03	0	0	0	2	0	43	440
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1099-1101)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	70.0	76.0	74.0		1099	5.0	1.0	5	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	101	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	probably-damaging	367/684	148619346	5,13001	2203	4300	6503	SO:0001583	missense	22885	13	121412	45				g.chr5:148619346C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1099C>T	chr5.hg19:g.148619346C>T	ENSP00000425394:p.Arg367Trp	0					ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W	p.R367W			1	2	3	2.006602	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	12	1581	+			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	1	1	hg19	c.1099C>T	CCDS4294.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	2	ABLIM3	148599539	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	0	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-3.079013	1	0.170000	NM_014945			110	108		539	531	1		1	1		0	0	150	0		1	1	0	48	0	98	0	110	539
ABLIM3	22885	broad.mit.edu	37	5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	526					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577																																						ENST00000506113.1	1.000000	0.760000	1	9.300000e-01	0.990000	0.973124	0.990000	1.000000																										0				34						c.(1576-1578)aTt>aGt		actin binding LIM protein family, member 3							45.0	48.0	47.0					5																	148627370		2203	4300	6503	SO:0001583	missense	22885	0	0					g.chr5:148627370T>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1577T>G	chr5.hg19:g.148627370T>G	ENSP00000425394:p.Ile526Ser	0					ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S	p.I526S			1	2	3	2.006602	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	17	2059	+			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	1	1	hg19	c.1577T>G	CCDS4294.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352173	0.82132	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.987;0.982	D;D;D;P	0.83275	0.996;0.976;0.974;0.758	T	0.59263	-0.7487	10	0.87932	D	0	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	12;431;415;526	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	431;415;526;526;415;493;12;11	ENSP00000315841:I431S;ENSP00000348938:I415S;ENSP00000310309:I526S;ENSP00000425394:I526S;ENSP00000421183:I415S;ENSP00000420855:I493S;ENSP00000430150:I12S	ENSP00000310309:I526S	I	+	2	0	0	ABLIM3	148607563	148607563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.130000	0.77235	2.142000	0.66516	0.459000	0.35465	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_014945			25	25		238	233	1		1	1		0	0	54	0		9.999998e-01	9.999171e-01	0	45	0	99	0	25	238
ABLIM3	22885	broad.mit.edu	37	5	148637959	148637959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000517451.1_Silent_p.L168L|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000309868.7_Silent_p.L682L|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.L587L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	682	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438																																						ENST00000506113.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2044-2046)Ctg>Ttg		actin binding LIM protein family, member 3							46.0	46.0	46.0					5																	148637959		2203	4300	6503	SO:0001819	synonymous_variant	22885	0	0					g.chr5:148637959C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2044C>T	chr5.hg19:g.148637959C>T		0					ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Silent_p.L168L|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Silent_p.L587L|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000309868.7_Silent_p.L682L	p.L682L			1	2	3	2.006602	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	23	2526	+			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	1	1	hg19	c.2044C>T	CCDS4294.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_014945			56	54		217	209	1		1	1		0	0	46	0		1	1	0	62	0	52	0	56	217
AFAP1L1	134265	broad.mit.edu	37	5	148679100	148679100	+	Silent	SNP	C	C	T	rs199577925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	15						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			CAGAGCTCACCGGGCTGCTCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17790	0.0		0.001	False		,,,				2504	0.0					ENST00000296721.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999871	0.990000	1.000000																										0				26						c.(43-45)acC>acT		actin filament associated protein 1-like 1		C	,	1,4405	2.1+/-5.4	0,1,2202	59.0	56.0	57.0		45,45	-9.3	0.0	5	dbSNP_132	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFAP1L1	NM_001146337.1,NM_152406.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	15/726,15/769	148679100	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	134265	9	121412	40				g.chr5:148679100C>T	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.45C>T	chr5.hg19:g.148679100C>T		0					AFAP1L1_ENST00000515000.1_Silent_p.T15T|AFAP1L1_ENST00000522492.1_3'UTR	p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	1	2	3	2.006602	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	143	+			Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	1	1	hg19	c.45C>T	CCDS34274.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.142960	1	0.170000	NM_152406			42	43		281	278	1		1	0		0	0	61	0		1	1.785748e-02	0	1	0	1	0	42	281
AFAP1L1	134265	broad.mit.edu	37	5	148687146	148687146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	239	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			GGGCCAAGCAGCTGACGGTCA	0.592																																						ENST00000296721.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(715-717)caG>caA		actin filament associated protein 1-like 1							61.0	49.0	53.0					5																	148687146		2203	4300	6503	SO:0001819	synonymous_variant	134265	0	0					g.chr5:148687146G>A	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.717G>A	chr5.hg19:g.148687146G>A		0					AFAP1L1_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	1	2	3	2.006602	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	7	815	+			Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	1	1	hg19	c.717G>A	CCDS34274.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_152406			46	45		171	170	1		1	1		0	0	38	0		1	9.995817e-01	0	13	0	34	0	46	171
PCYOX1L	78991	broad.mit.edu	37	5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612																																					Ovarian(62;1136 1477 27277 27495)	ENST00000274569.4	1.000000	0.760000	1	8.600000e-01	0.980000	0.947386	0.980000	1.000000																										0				11						c.(196-198)Cgc>Tgc		prenylcysteine oxidase 1 like							103.0	107.0	106.0					5																	148742307		2203	4300	6503	SO:0001583	missense	78991	1	121412	31				g.chr5:148742307C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.196C>T	chr5.hg19:g.148742307C>T	ENSP00000274569:p.Arg66Cys	0					PCYOX1L_ENST00000514349.1_5'UTR	p.R66C	NM_024028.3	NP_076933.3	1	2	3	2.006602	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	258	+			Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	1	1	hg19	c.196C>T	CCDS4296.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884128	0.51908	.	.	ENSG00000145882	ENST00000274569	T	0.15834	2.39	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48019	-0.9071	10	0.87932	D	0	-20.8276	19.1631	0.93543	0.0:1.0:0.0:0.0	.	66	Q8NBM8	PCYXL_HUMAN	C	66	ENSP00000274569:R66C	ENSP00000274569:R66C	R	+	1	0	0	PCYOX1L	148722500	148722500	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.877000	0.69675	2.596000	0.87737	0.561000	0.74099	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-3.075755	1	0.170000	NM_024028			63	62		703	693	0		1	1		0	0	127	0		1	8.767241e-01	0	4	0	39	0	63	703
PCYOX1L	78991	broad.mit.edu	37	5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000274569.4	+	6	934	c.872G>T	c.(871-873)aGc>aTc	p.S291I	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.S201I	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	291					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000274569.4	1.000000	0.300000	5.600000e-01	3.700000e-01	0.450000	0.492443	0.450000	0.440000																										0				11						c.(871-873)aGc>aTc		prenylcysteine oxidase 1 like							141.0	134.0	136.0					5																	148747604		2203	4300	6503	SO:0001583	missense	78991	0	0					g.chr5:148747604G>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.872G>T	chr5.hg19:g.148747604G>T	ENSP00000274569:p.Ser291Ile	0		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.S201I	p.S291I	NM_024028.3	NP_076933.3	1	2	3	2.006602	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	6	934	+			Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	1	1	hg19	c.872G>T	CCDS4296.1	0	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151505	0.21371	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15256	2.9;2.44	5.53	4.47	0.54385	5.53	4.47	0.54385	Prenylcysteine lyase (1);	0.425451	0.27354	N	0.019756	T	0.11965	0.0291	N	0.08118	0	0.28518	N	0.913217	B;B;P	0.37594	0.033;0.364;0.601	B;B;B	0.41571	0.066;0.36;0.178	T	0.11641	-1.0579	10	0.37606	T	0.19	-20.1905	15.2515	0.73549	0.0788:0.0:0.9212:0.0	.	173;201;291	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	I	291;201	ENSP00000274569:S291I;ENSP00000428512:S201I	ENSP00000274569:S291I	S	+	2	0	0	PCYOX1L	148727797	148727797	0.981000	0.34729	0.910000	0.35882	0.327000	0.28475	2.055000	0.41345	2.590000	0.87494	0.561000	0.74099	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	0	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-3.865586	1	0.170000	NM_024028			29	29		750	740	0		1	1		0	0	154	0		1	7.058431e-01	0	2	0	63	0	29	750
ARHGEF37	389337	broad.mit.edu	37	5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	192	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522																																						ENST00000333677.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(574-576)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 37							110.0	105.0	107.0					5																	148996246		1972	4162	6134	SO:0001583	missense	389337	0	0					g.chr5:148996246C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.575C>T	chr5.hg19:g.148996246C>T	ENSP00000328083:p.Ala192Val	0						p.A192V	NM_001001669.2	NP_001001669.2	1	2	3	2.006602	A1IGU5	ARH37_HUMAN		5	738	+			Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	1	1	hg19	c.575C>T	CCDS43385.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698084	0.68386	.	.	ENSG00000183111	ENST00000333677	T	0.30448	1.53	5.17	5.17	0.71159	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.056528	0.64402	D	0.000001	T	0.49372	0.1553	L	0.43923	1.385	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.49762	-0.8905	10	0.87932	D	0	-5.8857	19.0356	0.92976	0.0:1.0:0.0:0.0	.	192	A1IGU5	ARH37_HUMAN	V	192	ENSP00000328083:A192V	ENSP00000328083:A192V	A	+	2	0	0	ARHGEF37	148976439	148976439	1.000000	0.71417	0.993000	0.49108	0.143000	0.21401	3.540000	0.53611	2.584000	0.87258	0.467000	0.42956	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_001001669			53	52		288	285	1		1	1		0	0	79	0		1	6.254064e-01	0	3	0	10	0	53	288
ARHGEF37	389337	broad.mit.edu	37	5	148998539	148998539	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	276	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333677.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(826-828)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 37							273.0	281.0	278.0					5																	148998539		2016	4186	6202	SO:0001819	synonymous_variant	389337	0	0					g.chr5:148998539C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.828C>T	chr5.hg19:g.148998539C>T		0		OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1721		p.F276F	NM_001001669.2	NP_001001669.2	1	2	3	2.006602	A1IGU5	ARH37_HUMAN		7	991	+			Q6ZW51	Silent	SNP	ENST00000333677.6	1	1	hg19	c.828C>T	CCDS43385.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	1		17	2	2	1		1	1	320		320	318	1	2.060000	-20.000000	1	0.170000	NM_001001669			316	310		1251	1225	0		1	1		1	0	320	0		1	8.359285e-01	0	3	0	12	0	316	1251
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512																																						ENST00000333677.6	1.000000	0.200000	4.600000e-01	2.600000e-01	0.340000	0.399386	0.340000	0.330000																										0				17						c.(919-921)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 37							128.0	127.0	127.0					5																	148999941		1931	4133	6064	SO:0001583	missense	389337	0	0					g.chr5:148999941G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.919G>A	chr5.hg19:g.148999941G>A	ENSP00000328083:p.Glu307Lys	0						p.E307K	NM_001001669.2	NP_001001669.2	1	2	3	2.006602	A1IGU5	ARH37_HUMAN		8	1082	+			Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	1	1	hg19	c.919G>A	CCDS43385.1	0	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194412	0.22037	.	.	ENSG00000183111	ENST00000333677	T	0.58797	0.31	6.07	5.19	0.71726	6.07	5.19	0.71726	BAR (2);	0.508022	0.22973	N	0.053418	T	0.54902	0.1887	M	0.75447	2.3	0.19300	N	0.999974	P	0.47962	0.903	B	0.43838	0.433	T	0.50457	-0.8826	10	0.11182	T	0.66	-0.0621	8.7577	0.34656	0.0787:0.1527:0.7685:0.0	.	307	A1IGU5	ARH37_HUMAN	K	307	ENSP00000328083:E307K	ENSP00000328083:E307K	E	+	1	0	0	ARHGEF37	148980134	148980134	0.815000	0.29118	0.153000	0.22517	0.012000	0.07955	2.143000	0.42187	1.553000	0.49476	0.650000	0.86243	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-2.807187	1	0.170000	NM_001001669			17	17		582	572	0		1	0		0	0	106	0		9.999602e-01	4.265281e-02	0	0	0	11	0	17	582
ARHGEF37	389337	broad.mit.edu	37	5	149006811	149006812	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811_149006812GC>AA	ENST00000333677.6	+	11	1800_1801	c.1637_1638GC>AA	c.(1636-1638)gGC>gAA	p.G546E		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTGG	0.609																																						ENST00000333677.6	1.000000	0.990000|0.170000	1|4.200000e-01	9.900000e-01|2.300000e-01	0.990000|0.310000	1.000000|0.364534	0.990000|0.310000	1.000000|0.290000																										0				17						c.(1636-1638)gGc>gAc|c.(1636-1638)ggC>ggA		Rho guanine nucleotide exchange factor (GEF) 37																																				SO:0001583	missense	389337	1|0	120966|0	31|				g.chr5:149006811G>A|g.chr5:149006812C>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	Exception_encountered	chr5.hg19:g.149006811_149006812delinsAA	ENSP00000328083:p.Gly546Glu	0						p.G546D|p.G546G	NM_001001669.2	NP_001001669.2	1	2	3	2.006602	A1IGU5	ARH37_HUMAN		11	1800|1801	+			Q6ZW51	Missense_Mutation|Silent	SNP	ENST00000333677.6	1	1	hg19	c.1637G>A|c.1638C>A	CCDS43385.1	1|0																									5.11|	2.38|	0.29361|																																												0|			148987004|														1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.609	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	1|0	0	1		2	2	2	0		0	0	120		121|120	121|120	1	2.060000	-20.000000|-3.759133	1	0.170000	NM_001001669			102|15	100|15		494|581	492|575	1|0		1	1|0		0	0	121|120	0		1|9.998627e-01	6.355981e-01|3.491723e-02	0	2|0	0	10|11	0	15	494
PPARGC1B	133522	broad.mit.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A	rs189353551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20659	0.001		0.0	False		,,,				2504	0.0					ENST00000309241.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(532-534)Gcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							99.0	104.0	102.0					5																	149210396		2203	4300	6503	SO:0001583	missense	133522	4	121412	40				g.chr5:149210396G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>A	chr5.hg19:g.149210396G>A	ENSP00000312649:p.Ala178Thr	0					PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000403750.1_Intron	p.A178T	NM_133263.3	NP_573570.3	1	2	3	2.006602	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	4	564	+			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	1	1	hg19	c.532G>A	CCDS4298.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.74	1.728445	0.30593	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.08896	3.04;3.05	5.29	-9.07	0.00724	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.02533	0.0077	N	0.20685	0.6	0.36951	D	0.892856	B;B;B;B	0.16396	0.003;0.007;0.002;0.017	B;B;B;B	0.09377	0.002;0.004;0.001;0.004	T	0.45833	-0.9234	10	0.02654	T	1	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	T	178	ENSP00000377855:A178T;ENSP00000312649:A178T	ENSP00000312649:A178T	A	+	1	0	0	PPARGC1B	149190589	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_133263			133	129		604	594	1		1			0	0	128	0		1	0	0	0	0	0	0	133	604
PPARGC1B	133522	broad.mit.edu	37	5	149212986	149212986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149212986G>A	ENST00000309241.5	+	5	1382	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	PPARGC1B_ENST00000394320.3_Silent_p.E450E|PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	450	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaggagTGGGGCAGGA	0.622																																						ENST00000309241.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999741	0.990000	1.000000																										0				30						c.(1348-1350)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							42.0	45.0	44.0					5																	149212986		2185	4290	6475	SO:0001819	synonymous_variant	133522	0	0					g.chr5:149212986G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1350G>A	chr5.hg19:g.149212986G>A		0					PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000394320.3_Silent_p.E450E|PPARGC1B_ENST00000403750.1_Silent_p.E386E	p.E450E	NM_133263.3	NP_573570.3	1	2	3	2.006602	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	5	1382	+			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	0	1	hg19	c.1350G>A	CCDS4298.1	1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662079	0.14645	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.38	2.66	0.31614	5.38	2.66	0.31614	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-15.9151	8.4931	0.33112	0.3021:0.0:0.6979:0.0	.	.	.	.	M	137	.	.	V	+	1	0	0	PPARGC1B	149193179	149193179	0.978000	0.34361	1.000000	0.80357	0.978000	0.69477	-0.082000	0.11304	0.264000	0.21851	0.462000	0.41574	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_133263			14	12		55	53	0		1	0		0	0	9	0		9.997859e-01	4.694836e-02	0	0	0	2	0	14	55
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A	rs369256348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627																																						ENST00000309241.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2047-2049)cGt>cAt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50.0	54.0	53.0		1931,1856,2048	4.5	1.0	5		53	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	644/985,619/960,683/1024	149216066	1,13003	2203	4299	6502	SO:0001583	missense	133522	0	0					g.chr5:149216066G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2048G>A	chr5.hg19:g.149216066G>A	ENSP00000312649:p.Arg683His	0					PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H	p.R683H	NM_133263.3	NP_573570.3	1	2	3	2.006602	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	8	2080	+			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	1	1	hg19	c.2048G>A	CCDS4298.1	1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443480	0.43429	0.0	1.16E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.21361	2.03;2.01;2.05;2.02	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.193702	0.33161	N	0.005210	T	0.22820	0.0551	L	0.58101	1.795	0.37255	D	0.906726	P;B;P;B;P	0.39737	0.685;0.212;0.685;0.414;0.685	B;B;B;B;B	0.32724	0.14;0.042;0.14;0.066;0.151	T	0.36480	-0.9746	10	0.87932	D	0	-17.9009	17.5766	0.87952	0.0:0.0:1.0:0.0	.	662;662;644;683;683	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	644;683;683;619	ENSP00000353638:R644H;ENSP00000377855:R683H;ENSP00000312649:R683H;ENSP00000384403:R619H	ENSP00000312649:R683H	R	+	2	0	0	PPARGC1B	149196259	149196259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.689000	0.74562	2.212000	0.71576	0.456000	0.33151	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-20.000000	1	0.170000	NM_133263			78	77		422	411	1		1	1		0	0	94	0		1	1.199539e-01	0	2	0	2	0	78	422
PPARGC1B	133522	broad.mit.edu	37	5	149216334	149216334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	772	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602																																						ENST00000309241.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2314-2316)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							106.0	111.0	109.0					5																	149216334		2203	4300	6503	SO:0001819	synonymous_variant	133522	0	0					g.chr5:149216334G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2316G>A	chr5.hg19:g.149216334G>A		0					PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000403750.1_Silent_p.E708E	p.E772E	NM_133263.3	NP_573570.3	1	2	3	2.006602	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	8	2348	+			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	1	1	hg19	c.2316G>A	CCDS4298.1	1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216807	0.09810	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-1.35	0.09114	4.93	-1.35	0.09114	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.29451	N	0.858469	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	-10.0845	0.4038	0.00430	0.251:0.2731:0.2459:0.23	.	.	.	.	N	459	.	.	D	+	1	0	0	PPARGC1B	149196527	149196527	0.894000	0.30519	0.255000	0.24374	0.993000	0.82548	0.833000	0.27504	-0.040000	0.13580	0.462000	0.41574	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1		2	2	2	0		0	0	185		185	185	1	2.060000	-20.000000	1	0.170000	NM_133263			163	161		807	799	0		1	0		0	0	185	0		1	1.349241e-01	0	0	0	4	0	163	807
PDE6A	5145	broad.mit.edu	37	5	149310693	149310693	+	Silent	SNP	A	A	C	rs552900459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	252					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CGATGTCCGTAAGTTCTTCAA	0.443																																						ENST00000255266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(754-756)ctT>ctG		phosphodiesterase 6A, cGMP-specific, rod, alpha	Caffeine(DB00201)						146.0	118.0	128.0					5																	149310693		2203	4300	6503	SO:0001819	synonymous_variant	5145	0	0					g.chr5:149310693A>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.756T>G	chr5.hg19:g.149310693A>C		0						p.L252L	NM_000440.2	NP_000431.2	1	2	3	2.006602	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	4	875	-			Q0P638	Silent	SNP	ENST00000255266.5	1	1	hg19	c.756T>G	CCDS4299.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				56	56		306	303	1		1			0	0	67	0		1	0	0	0	0	0	0	56	306
PDE6A	5145	broad.mit.edu	37	5	149324153	149324153	+	Silent	SNP	G	G	A	rs34230349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149324153G>A	ENST00000255266.5	-	1	203	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	28					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCTTGGCCCGGTAGTGGAGGT	0.572													G|||	84	0.0167732	0.0461	0.0058	5008	,	,		18582	0.0099		0.0	False		,,,				2504	0.0092					ENST00000255266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(82-84)taC>taT		phosphodiesterase 6A, cGMP-specific, rod, alpha	Caffeine(DB00201)	G		199,4207	124.5+/-161.8	2,195,2006	48.0	43.0	45.0		84	2.0	1.0	5	dbSNP_126	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDE6A	NM_000440.2		2,196,6305	AA,AG,GG		0.0116,4.5166,1.5378		28/861	149324153	200,12806	2203	4300	6503	SO:0001819	synonymous_variant	5145	648	121412	58				g.chr5:149324153G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.84C>T	chr5.hg19:g.149324153G>A		0						p.Y28Y	NM_000440.2	NP_000431.2	1	2	3	2.006602	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	1	203	-			Q0P638	Silent	SNP	ENST00000255266.5	1	0	hg19	c.84C>T	CCDS4299.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-2.402198	0	0.170000				38	36		163	162	1		1			0	0	53	0		1	0	0	0	0	0	0	38	163
TIGD6	81789	broad.mit.edu	37	5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	476						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)			GAACTGTCTAAGTTTCTGTAC	0.388																																						ENST00000296736.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1426-1428)cTt>cGt		tigger transposable element derived 6							100.0	91.0	94.0					5																	149374485		2203	4300	6503	SO:0001583	missense	81789	0	0					g.chr5:149374485A>C	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.1427T>G	chr5.hg19:g.149374485A>C	ENSP00000296736:p.Leu476Arg	0					TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	p.L476R	NM_030953.3	NP_112215.1	1	2	3	2.006602	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	2	2201	-			B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	1	1	hg19	c.1427T>G	CCDS4301.1	1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364116	0.41902	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.20463	2.07;2.07	4.51	0.74	0.18330	4.51	0.74	0.18330	.	0.563343	0.13339	U	0.395337	T	0.22475	0.0542	N	0.24115	0.695	0.22858	N	0.998648	D	0.58620	0.983	P	0.56474	0.799	T	0.12400	-1.0549	10	0.87932	D	0	.	7.6011	0.28077	0.7318:0.0:0.2682:0.0	.	476	Q17RP2	TIGD6_HUMAN	R	476	ENSP00000296736:L476R;ENSP00000425318:L476R	ENSP00000296736:L476R	L	-	2	0	0	TIGD6	149354678	149354678	0.995000	0.38212	0.973000	0.42090	0.828000	0.46876	1.501000	0.35693	0.041000	0.15688	-0.264000	0.10439	CTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_030953			64	61		297	289	1		1	1		0	0	83	0		1	9.052072e-01	0	9	0	12	0	64	297
CSF1R	1436	broad.mit.edu	37	5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582																																						ENST00000286301.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2068-2070)Ggc>Agc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	63.0	67.0	66.0		2068	3.9	0.2	5	dbSNP_134	66	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	690/973	149439327	2,13004	2203	4300	6503	SO:0001583	missense	1436	2	121392	41				g.chr5:149439327C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2068G>A	chr5.hg19:g.149439327C>T	ENSP00000286301:p.Gly690Ser	0					CSF1R_ENST00000515239.1_5'Flank	p.G690S	NM_005211.3	NP_005202.2	1	2	3	2.006602	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	15	2359	-			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	1	1	hg19	c.2068G>A	CCDS4302.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999846	0.35320	4.54E-4	0.0	ENSG00000182578	ENST00000286301	T	0.77098	-1.07	4.79	3.92	0.45320	4.79	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588531	0.15014	N	0.285361	T	0.61274	0.2334	L	0.33339	1.005	0.21782	N	0.999544	D	0.54601	0.967	B	0.37888	0.26	T	0.53865	-0.8378	10	0.35671	T	0.21	.	6.1275	0.20187	0.1519:0.6892:0.0:0.1589	.	690	P07333	CSF1R_HUMAN	S	690	ENSP00000286301:G690S	ENSP00000286301:G690S	G	-	1	0	0	CSF1R	149419520	149419520	0.000000	0.05858	0.158000	0.22627	0.047000	0.14425	0.720000	0.25896	1.336000	0.45506	0.561000	0.74099	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-3.045093	1	0.170000	NM_005211			86	86		414	408	1		1	0		0	0	76	0		1	1	0	0	0	262	0	86	414
PDGFRB	5159	broad.mit.edu	37	5	149495413	149495413	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149495413G>T	ENST00000261799.4	-	23	3703	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1078					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)			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)	GCTCCACCTGGAGCTCAAGCT	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4	1.000000	0.260000	9.700000e-01	4.200000e-01	0.640000	0.663205	0.640000	1.000000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""				L	L	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP		MPD, AML, CMML, CML		0				75						c.(3232-3234)ctC>ctA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						29.0	31.0	30.0					5																	149495413		2203	4298	6501	SO:0001819	synonymous_variant	5159	0	0					g.chr5:149495413G>T	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.3234C>A	chr5.hg19:g.149495413G>T		0					CSF1R_ENST00000286301.3_5'Flank	p.L1078L	NM_002609.3	NP_002600.1	1	2	3	2.006602	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	23	3703	-		all_hematologic(541;0.224)	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	0	1	hg19	c.3234C>A	CCDS4303.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	0	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-9.504075	1	0.170000	NM_002609			6	6		115	112	0		1	0		0	0	31	0		9.634566e-01	9.999984e-01	0	1	0	942	0	6	115
PDGFRB	5159	broad.mit.edu	37	5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	ACCAGCTTGCCTTCACAGATG	0.582			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""				L	L	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP		MPD, AML, CMML, CML		0				75						c.(2509-2511)Ggc>Tgc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						158.0	134.0	142.0					5																	149500528		2203	4300	6503	SO:0001583	missense	5159	0	0					g.chr5:149500528C>A	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.2509G>T	chr5.hg19:g.149500528C>A	ENSP00000261799:p.Gly837Cys	0						p.G837C	NM_002609.3	NP_002600.1	1	2	3	2.006602	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	18	2978	-		all_hematologic(541;0.224)	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	1	1	hg19	c.2509G>T	CCDS4303.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.348081	0.95807	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	5.03	5.03	0.67393	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.274240	0.25025	N	0.033728	D	0.93963	0.8067	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	837;837	A8KAM8;P09619	.;PGFRB_HUMAN	C	837;507	ENSP00000261799:G837C	ENSP00000261799:G837C	G	-	1	0	0	PDGFRB	149480721	149480721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.086000	0.71352	2.504000	0.84457	0.655000	0.94253	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.426203	1	0.170000	NM_002609			74	74		300	294	1		1	0		0	0	70	0		1	1	0	0	0	778	0	74	300
PDGFRB	5159	broad.mit.edu	37	5	149512485	149512485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	ENST00000261799.4	-	7	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	319					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)			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)	ACCTCTCCCAGGAGCCGCACG	0.647			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.996792	0.990000	1.000000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""				L	L	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP		MPD, AML, CMML, CML		0				75						c.(955-957)Ctg>Ttg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						28.0	23.0	25.0					5																	149512485		2198	4292	6490	SO:0001819	synonymous_variant	5159	0	0					g.chr5:149512485G>A	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.955C>T	chr5.hg19:g.149512485G>A		0						p.L319L	NM_002609.3	NP_002600.1	1	2	3	2.006602	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	1424	-		all_hematologic(541;0.224)	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	0	1	hg19	c.955C>T	CCDS4303.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-17.340500	1	0.170000	NM_002609			8	8		32	31	0		1	0		0	0	11	0		9.910206e-01	1	0	1	0	661	0	8	32
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273					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)			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)			GTTGCGCACAGCCTCATCCAT	0.597																																						ENST00000328668.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(817-819)gCt>gAt		arylsulfatase family, member I							43.0	37.0	39.0					5																	149677669		2203	4300	6503	SO:0001583	missense	340075	0	0					g.chr5:149677669G>T	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.818C>A	chr5.hg19:g.149677669G>T	ENSP00000333395:p.Ala273Asp	0						p.A273D	NM_001012301.2	NP_001012301.1	1	2	3	2.006602	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	2	1397	-			A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	1	1	hg19	c.818C>A	CCDS34275.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432615	0.83776	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96913	-4.17;-4.17	4.46	4.46	0.54185	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.78049	2.395	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	D	0.98335	1.0535	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	D	273;130	ENSP00000333395:A273D;ENSP00000426879:A130D	ENSP00000333395:A273D	A	-	2	0	0	ARSI	149657862	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_001012301			43	43		176	172	1		1	0		0	0	45	0		1	9.432384e-01	0	0	0	22	0	43	176
TCOF1	6949	broad.mit.edu	37	5	149771736	149771736	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149771736C>T	ENST00000504761.2	+	21	3514	c.3514C>T	c.(3514-3516)Ctg>Ttg	p.L1172L	TCOF1_ENST00000451292.1_Silent_p.L1209L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000513346.1_Silent_p.L1171L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1172					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCACACGCTGGGTGAGGG	0.612																																						ENST00000504761.2	1.000000	0.110000	4.500000e-01	1.800000e-01	0.290000	0.349740	0.290000	0.270000																										0				35						c.(3514-3516)Ctg>Ttg		Treacher Collins-Franceschetti syndrome 1							33.0	35.0	35.0					5																	149771736		2203	4300	6503	SO:0001819	synonymous_variant	6949	0	0					g.chr5:149771736C>T		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.3514C>T	chr5.hg19:g.149771736C>T		0					TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000451292.1_Silent_p.L1209L|TCOF1_ENST00000445265.2_Silent_p.L1095L	p.L1172L			1	2	3	2.006602	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	21	3514	+		all_hematologic(541;0.224)	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	0	1	hg19	c.3514C>T	CCDS54936.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	0	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-7.193347	1	0.170000	NM_001008656			6	6		265	252	0		1	1		0	0	39	0		9.598027e-01	5.053548e-01	0	2	0	67	0	6	265
CD74	972	broad.mit.edu	37	5	149786471	149786471	+	Silent	SNP	C	C	T	rs548437679	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000009530.7	-	3	352	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000353334.6_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000377795.3_Silent_p.A117A			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	117	CLIP.				activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682			T	ROS1	NSCLC								C|||	3	0.000599042	0.0	0.0	5008	,	,		18593	0.0		0.0	False		,,,				2504	0.0031					ENST00000009530.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999890	0.990000	1.000000				Dom	yes			Dom	yes		5	5q32	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""				E	E	ROS1		NSCLC		0				5						c.(349-351)gcG>gcA		CD74 molecule, major histocompatibility complex, class II invariant chain							21.0	24.0	23.0					5																	149786471		2203	4298	6501	SO:0001819	synonymous_variant	972	22	120888	39				g.chr5:149786471C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.351G>A	chr5.hg19:g.149786471C>T		0					CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000353334.6_Silent_p.A117A	p.A117A			1	2	3	2.006602	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	3	352	-		all_hematologic(541;0.224)	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	1	1	hg19	c.351G>A	CCDS47309.1	1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022268	0.08006	.	.	ENSG00000019582	ENST00000518797	T	0.61627	0.09	4.51	-7.42	0.01388	4.51	-7.42	0.01388	.	0.989663	0.08250	N	0.974778	T	0.25901	0.0631	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.17369	T	0.5	-1.7585	0.562	0.00680	0.212:0.1953:0.2097:0.383	.	.	.	.	T	112	ENSP00000430614:A112T	ENSP00000430614:A112T	A	-	1	0	0	CD74	149766664	149766664	0.000000	0.05858	0.009000	0.14445	0.490000	0.33462	-3.837000	0.00354	-1.756000	0.01318	-0.215000	0.12644	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_004355			15	15		54	52	1		1	1		0	0	18	0		9.999174e-01	1	0	920	0	5606	0	15	54
NDST1	3340	broad.mit.edu	37	5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A	rs371359917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000261797.6	+	12	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	737	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622																																						ENST00000261797.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2209-2211)Ggc>Agc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		G	SER/GLY	0,4406		0,0,2203	90.0	62.0	71.0		2209	4.0	0.0	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDST1	NM_001543.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	737/883	149927843	1,13005	2203	4300	6503	SO:0001583	missense	3340	1	121412	37				g.chr5:149927843G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2209G>A	chr5.hg19:g.149927843G>A	ENSP00000261797:p.Gly737Ser	0					NDST1_ENST00000523767.1_Intron	p.G737S	NM_001543.4	NP_001534.1	1	2	3	2.006602	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	12	2711	+		all_hematologic(541;0.224)	Q96E57	Missense_Mutation	SNP	ENST00000261797.6	1	1	hg19	c.2209G>A	CCDS34277.1	1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500001	0.12762	0.0	1.16E-4	ENSG00000070614	ENST00000261797	T	0.56103	0.48	4.91	4.04	0.47022	4.91	4.04	0.47022	Sulfotransferase domain (1);	0.308220	0.39615	N	0.001304	T	0.29389	0.0732	N	0.16016	0.355	0.58432	D	0.999998	B	0.27264	0.173	B	0.18561	0.022	T	0.16778	-1.0391	10	0.02654	T	1	.	13.2775	0.60196	0.0763:0.0:0.9237:0.0	.	737	P52848	NDST1_HUMAN	S	737	ENSP00000261797:G737S	ENSP00000261797:G737S	G	+	1	0	0	NDST1	149908036	149908036	1.000000	0.71417	0.018000	0.16275	0.041000	0.13682	4.852000	0.62904	1.203000	0.43233	0.655000	0.94253	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_001543			51	51		255	250	1		1	1		0	0	62	0		1	9.997707e-01	0	6	0	59	0	51	255
NDST1	3340	broad.mit.edu	37	5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000261797.6	+	13	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	782	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532																																						ENST00000261797.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2344-2346)Cgc>Tgc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							117.0	97.0	104.0					5																	149929267		2203	4300	6503	SO:0001583	missense	3340	0	0					g.chr5:149929267C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2344C>T	chr5.hg19:g.149929267C>T	ENSP00000261797:p.Arg782Cys	0					NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	p.R782C	NM_001543.4	NP_001534.1	1	2	3	2.006602	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	13	2846	+		all_hematologic(541;0.224)	Q96E57	Missense_Mutation	SNP	ENST00000261797.6	1	1	hg19	c.2344C>T	CCDS34277.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007009	0.74932	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.82893	0.5;-1.66	5.01	3.17	0.36434	5.01	3.17	0.36434	Sulfotransferase domain (1);	0.056562	0.64402	D	0.000001	D	0.89784	0.6815	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	D	0.90059	0.4155	10	0.72032	D	0.01	.	14.0209	0.64555	0.2763:0.7237:0.0:0.0	.	725;782	E7EVJ3;P52848	.;NDST1_HUMAN	C	725;782	ENSP00000428604:R725C;ENSP00000261797:R782C	ENSP00000261797:R782C	R	+	1	0	0	NDST1	149909460	149909460	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	1.493000	0.35605	0.583000	0.29574	0.591000	0.81541	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-3.657797	1	0.170000	NM_001543			34	34		125	120	0		1	1		0	0	25	0		1	9.999988e-01	0	2	0	83	0	34	125
SYNPO	11346	broad.mit.edu	37	5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	235					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667																																						ENST00000394243.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(703-705)aGc>aAc		synaptopodin							23.0	30.0	28.0					5																	150027809		2202	4300	6502	SO:0001583	missense	11346	0	0					g.chr5:150027809G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.704G>A	chr5.hg19:g.150027809G>A	ENSP00000377789:p.Ser235Asn	0					SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	p.S235N	NM_001166208.1	NP_001159680.1	1	2	3	2.006602	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	3	1078	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	1	1	hg19	c.704G>A	CCDS54937.1	1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202039	0.22121	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	2.19	0.27852	5.16	2.19	0.27852	.	0.000000	0.48767	D	0.000172	T	0.15392	0.0371	L	0.29908	0.895	0.40926	D	0.984353	B	0.18166	0.026	B	0.19391	0.025	T	0.09640	-1.0665	10	0.17369	T	0.5	-11.3873	7.7797	0.29058	0.1734:0.1482:0.6784:0.0	.	235	Q8N3V7	SYNPO_HUMAN	N	235	ENSP00000377789:S235N;ENSP00000428378:S235N	ENSP00000377789:S235N	S	+	2	0	0	SYNPO	150008002	150008002	0.000000	0.05858	0.979000	0.43373	0.720000	0.41350	-0.198000	0.09505	0.587000	0.29643	0.561000	0.74099	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	1	0	0		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_007286			28	26		106	106	0		1	1		0	0	21	0		1	1	0	6	0	158	0	28	106
SYNPO	11346	broad.mit.edu	37	5	150027836	150027836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027836G>T	ENST00000394243.1	+	3	1105	c.731G>T	c.(730-732)aGc>aTc	p.S244I	SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	244					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGCCACAGCATGGAGGGG	0.637																																						ENST00000394243.1	1.000000	0.180000	6.300000e-01	2.800000e-01	0.420000	0.470913	0.420000	0.380000																										0				18						c.(730-732)aGc>aTc		synaptopodin							41.0	48.0	46.0					5																	150027836		2203	4300	6503	SO:0001583	missense	11346	0	0					g.chr5:150027836G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.731G>T	chr5.hg19:g.150027836G>T	ENSP00000377789:p.Ser244Ile	0					SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	p.S244I	NM_001166208.1	NP_001159680.1	1	2	3	2.006602	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	3	1105	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	0	1	hg19	c.731G>T	CCDS54937.1	0	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105396	0.37145	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.25085	1.82;1.82	5.28	3.41	0.39046	5.28	3.41	0.39046	.	0.143250	0.32785	N	0.005657	T	0.13114	0.0318	N	0.17082	0.46	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.2011	5.4992	0.16819	0.1582:0.0:0.6693:0.1725	.	244	Q8N3V7	SYNPO_HUMAN	I	244	ENSP00000377789:S244I;ENSP00000428378:S244I	ENSP00000377789:S244I	S	+	2	0	0	SYNPO	150008029	150008029	0.047000	0.20315	0.998000	0.56505	0.957000	0.61999	2.160000	0.42348	1.164000	0.42652	0.561000	0.74099	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	0	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-8.913949	1	0.170000	NM_007286			7	6		207	204	0		1	0		0	0	35	0		9.797972e-01	9.611058e-01	0	1	0	172	0	7	207
SYNPO	11346	broad.mit.edu	37	5	150028766	150028766	+	Missense_Mutation	SNP	G	G	A	rs35729008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150028766G>A	ENST00000394243.1	+	3	2035	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	554					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGAGACGCCCCTTGGGG	0.617																																						ENST00000394243.1	1.000000	0.160000	5.100000e-01	2.400000e-01	0.350000	0.404067	0.350000	0.320000																										0				18						c.(1660-1662)cGc>cAc		synaptopodin							47.0	55.0	52.0					5																	150028766		2203	4300	6503	SO:0001583	missense	11346	0	0					g.chr5:150028766G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1661G>A	chr5.hg19:g.150028766G>A	ENSP00000377789:p.Arg554His	0					SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H	p.R554H	NM_001166208.1	NP_001159680.1	1	2	3	2.006602	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	3	2035	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	0	1	hg19	c.1661G>A	CCDS54937.1	0	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053652	0.36277	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26810	1.73;1.73;1.71	5.18	4.31	0.51392	5.18	4.31	0.51392	.	0.116138	0.39407	N	0.001380	T	0.33352	0.0860	L	0.32530	0.975	0.32458	N	0.544542	B;D	0.76494	0.004;0.999	B;D	0.65233	0.004;0.933	T	0.40040	-0.9584	10	0.44086	T	0.13	-10.0133	8.5346	0.33355	0.0833:0.1537:0.763:0.0	.	310;554	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	554;554;310;310	ENSP00000377789:R554H;ENSP00000428378:R554H;ENSP00000429268:R310H	ENSP00000302139:R310H	R	+	2	0	0	SYNPO	150008959	150008959	0.990000	0.36364	0.998000	0.56505	0.252000	0.25951	2.217000	0.42880	1.182000	0.42928	-0.258000	0.10820	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-9.312084	1	0.170000	NM_007286			9	9		316	312	0		1	0		0	0	58	0		9.940580e-01	9.899435e-01	0	1	0	283	0	9	316
MYOZ3	91977	broad.mit.edu	37	5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|CTC-345K18.2_ENST00000511626.2_RNA	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642																																						ENST00000297130.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				5						c.(559-561)aGc>aTc		myozenin 3							41.0	43.0	42.0					5																	150052037		2203	4300	6503	SO:0001583	missense	91977	1	121324	24				g.chr5:150052037G>T	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.560G>T	chr5.hg19:g.150052037G>T	ENSP00000297130:p.Ser187Ile	0					CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H	p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	1	2	3	2.006602			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	6	759	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)		Missense_Mutation	SNP	ENST00000297130.4	1	1	hg19	c.560G>T	CCDS4309.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.004|6.004	0.369069|0.369069	0.11352|0.11352	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130;ENST00000523553	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	4.71|4.71	0.856|0.856	0.19019|0.19019	4.71|4.71	0.856|0.856	0.19019|0.19019	.|.	.|0.558332	.|0.17869	.|N	.|0.159246	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.18935|0.18935	-1.0321|-1.0321	6|10	0.87932|0.35671	D|T	0|0.21	-3.4812|-3.4812	4.3584|4.3584	0.11190|0.11190	0.2635:0.0:0.5748:0.1616|0.2635:0.0:0.5748:0.1616	.|.	.|187	.|Q8TDC0	.|MYOZ3_HUMAN	H|I	103|187;187;95	.|ENSP00000428815:S187I;ENSP00000297130:S187I;ENSP00000430913:S95I	ENSP00000429439:Q103H|ENSP00000297130:S187I	Q|S	+|+	3|2	2|0	2|0	MYOZ3|MYOZ3	150032230|150032230	150032230|150032230	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	-0.065000|-0.065000	0.11617|0.11617	-0.035000|-0.035000	0.13691|0.13691	-0.254000|-0.254000	0.11334|0.11334	CAG|AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-18.055210	1	0.170000	NM_001122853			29	27		129	127	0		1	0		0	0	33	0		1	9.404474e-02	0	0	0	3	0	29	129
MYOZ3	91977	broad.mit.edu	37	5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627																																						ENST00000297130.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(622-624)gGc>gAc		myozenin 3							62.0	73.0	69.0					5																	150056304		2203	4300	6503	SO:0001583	missense	91977	1	121412	31				g.chr5:150056304G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.623G>A	chr5.hg19:g.150056304G>A	ENSP00000297130:p.Gly208Asp	0					MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000456566.2_3'UTR	p.G208D	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	1	2	3	2.006602			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	822	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)		Missense_Mutation	SNP	ENST00000297130.4	1	1	hg19	c.623G>A	CCDS4309.1	1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255870	0.01457	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.62232	0.04;0.04	5.2	4.05	0.47172	5.2	4.05	0.47172	.	0.534254	0.18213	N	0.148114	T	0.30792	0.0776	N	0.03608	-0.345	0.21220	N	0.999752	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	-13.8802	7.1606	0.25662	0.8949:0.0:0.1051:0.0	.	208	Q8TDC0	MYOZ3_HUMAN	D	208	ENSP00000428815:G208D;ENSP00000297130:G208D	ENSP00000297130:G208D	G	+	2	0	0	MYOZ3	150036497	150036497	0.990000	0.36364	0.404000	0.26397	0.005000	0.04900	2.768000	0.47645	0.832000	0.34804	-0.302000	0.09304	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.333400	1	0.170000	NM_001122853			119	115		573	560	1		1	0		0	0	120	0		1	2.088085e-01	0	0	0	5	0	119	573
RBM22	55696	broad.mit.edu	37	5	150071373	150071373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000540000.1_Silent_p.H352H|RBM22_ENST00000447771.2_Silent_p.H352H	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)			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)			GAGAAGGATAGTGGATTGGTC	0.552																																						ENST00000199814.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1201-1203)caC>caT		RNA binding motif protein 22							113.0	109.0	111.0					5																	150071373		2203	4300	6503	SO:0001819	synonymous_variant	55696	0	0					g.chr5:150071373G>A	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.1203C>T	chr5.hg19:g.150071373G>A		0					RBM22_ENST00000540000.1_Silent_p.H352H|RBM22_ENST00000447771.2_Silent_p.H352H	p.H401H	NM_018047.2	NP_060517.1	1	2	3	2.006602	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	11	1324	-		Medulloblastoma(196;0.167)	A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	1	1	hg19	c.1203C>T	CCDS34278.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	1	0	0		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_018047			82	81		401	394	1		1	1		0	0	106	0		1	1	0	55	0	141	0	82	401
RBM22	55696	broad.mit.edu	37	5	150076139	150076139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000540000.1_Silent_p.F118F|RBM22_ENST00000447771.2_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	167					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)			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)			CTTTCACCCAGAAGGAGCAAA	0.483																																						ENST00000199814.4	1.000000	0.720000	1	8.300000e-01	0.960000	0.934357	0.960000	1.000000																										0				17						c.(499-501)ttC>ttT		RNA binding motif protein 22							131.0	125.0	127.0					5																	150076139		2203	4300	6503	SO:0001819	synonymous_variant	55696	0	0					g.chr5:150076139G>A	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.501C>T	chr5.hg19:g.150076139G>A		0					RBM22_ENST00000540000.1_Silent_p.F118F|RBM22_ENST00000447771.2_Silent_p.F118F	p.F167F	NM_018047.2	NP_060517.1	1	2	3	2.006602	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	6	622	-		Medulloblastoma(196;0.167)	A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	1	1	hg19	c.501C>T	CCDS34278.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	1	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-12.488290	1	0.170000	NM_018047			50	50		569	557	1		1	1		0	0	124	0		1	9.999984e-01	0	26	0	194	0	50	569
RBM22	55696	broad.mit.edu	37	5	150078092	150078092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					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)			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)			AGGTCTGACAGACATTCTTCA	0.463																																						ENST00000199814.4	1.000000	0.310000	6.200000e-01	3.900000e-01	0.480000	0.527173	0.480000	0.480000																										0				17						c.(238-240)gtC>gtT		RNA binding motif protein 22							124.0	111.0	116.0					5																	150078092		2203	4300	6503	SO:0001819	synonymous_variant	55696	0	0					g.chr5:150078092G>A	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.240C>T	chr5.hg19:g.150078092G>A		0					RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	p.V80V	NM_018047.2	NP_060517.1	1	2	3	2.006602	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	361	-		Medulloblastoma(196;0.167)	A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	1	1	hg19	c.240C>T	CCDS34278.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-4.209479	1	0.170000	NM_018047			24	25		574	564	0		1	1		0	0	124	0		9.999996e-01	9.861565e-01	0	10	0	153	0	24	574
DCTN4	51164	broad.mit.edu	37	5	150097898	150097898	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000446090.2_Silent_p.T344T|DCTN4_ENST00000424236.1_Silent_p.T280T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	337					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACATGGGTGAGGTTCT	0.502																																						ENST00000447998.2	1.000000	0.210000	7.100000e-01	3.200000e-01	0.470000	0.521364	0.470000	0.440000																										0				10						c.(1009-1011)acC>acA		dynactin 4 (p62)							132.0	114.0	120.0					5																	150097898		2203	4300	6503	SO:0001819	synonymous_variant	51164	0	0					g.chr5:150097898G>T	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1011C>A	chr5.hg19:g.150097898G>T		0					DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	p.T337T	NM_016221.3	NP_057305.1	1	2	3	2.006602	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	11	1126	-		Medulloblastoma(196;0.167)	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Silent	SNP	ENST00000447998.2	1	1	hg19	c.1011C>A	CCDS4310.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-3.326048	1	0.170000				7	7		182	181	0		1	1		0	0	49	0		9.808492e-01	8.872327e-01	0	5	0	98	0	7	182
ZNF300	91975	broad.mit.edu	37	5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000274599.5	-	6	1130	c.710G>T	c.(709-711)gGa>gTa	p.G237V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V|ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATTACTCCATTGTGAAT	0.343																																						ENST00000274599.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(709-711)gGa>gTa		zinc finger protein 300							87.0	92.0	90.0					5																	150276091		2203	4299	6502	SO:0001583	missense	91975	0	0					g.chr5:150276091C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.710G>T	chr5.hg19:g.150276091C>A	ENSP00000274599:p.Gly237Val	0					ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V	p.G237V	NM_052860.2	NP_443092.1	1	2	3	2.006602	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	6	1130	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	1	1	hg19	c.710G>T	CCDS4311.2	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861304	0.32884	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.17;3.17;3.09;3.17	3.04	2.16	0.27623	3.04	2.16	0.27623	.	.	.	.	.	T	0.16041	0.0386	L	0.46157	1.445	0.33494	D	0.589114	D	0.60575	0.988	P	0.59825	0.864	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4296	0.32750	0.0:0.8766:0.0:0.1234	.	237	Q96RE9	ZN300_HUMAN	V	253;237;201;237	ENSP00000397178:G253V;ENSP00000274599:G237V;ENSP00000392593:G201V;ENSP00000377773:G237V	ENSP00000274599:G237V	G	-	2	0	0	ZNF300	150256284	150256284	0.000000	0.05858	0.344000	0.25628	0.607000	0.37147	0.109000	0.15417	0.849000	0.35215	0.557000	0.71058	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.443737	1	0.170000	NM_052860			115	115		462	447	1		1	0		0	0	109	0		1	4.966848e-01	0	0	0	8	0	115	462
ZNF300	91975	broad.mit.edu	37	5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000274599.5	-	5	670	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000427179.1_Missense_Mutation_p.A84T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCATCTGCCTGATATTCA	0.363																																						ENST00000274599.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(250-252)Gca>Aca		zinc finger protein 300							187.0	167.0	174.0					5																	150277639		2203	4300	6503	SO:0001583	missense	91975	0	0					g.chr5:150277639C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.250G>A	chr5.hg19:g.150277639C>T	ENSP00000274599:p.Ala84Thr	0					ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000427179.1_Missense_Mutation_p.A84T|ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T	p.A84T	NM_052860.2	NP_443092.1	1	2	3	2.006602	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	5	670	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	1	1	hg19	c.250G>A	CCDS4311.2	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830383	0.50845	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08102	3.17;3.17;3.13;5.86;3.17	3.48	1.65	0.23941	3.48	1.65	0.23941	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.24187	N	0.995566	B	0.10296	0.003	B	0.09377	0.004	T	0.45483	-0.9258	9	0.22109	T	0.4	.	7.2149	0.25955	0.0:0.7715:0.0:0.2285	.	84	Q96RE9	ZN300_HUMAN	T	100;84;48;84;84	ENSP00000397178:A100T;ENSP00000274599:A84T;ENSP00000392593:A48T;ENSP00000414195:A84T;ENSP00000377773:A84T	ENSP00000274599:A84T	A	-	1	0	0	ZNF300	150257832	150257832	0.004000	0.15560	0.827000	0.32855	0.975000	0.68041	0.432000	0.21461	0.287000	0.22375	0.563000	0.77884	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_052860			80	80		360	348	1		1	0		0	0	116	0		1	7.520649e-01	0	1	0	13	0	80	360
ANXA6	309	broad.mit.edu	37	5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	484					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)			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)			ATCCTCCAGGGACTTGTGATA	0.577																																						ENST00000354546.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(1450-1452)tCc>tTc		annexin A6							48.0	52.0	51.0					5																	150497386		1941	4132	6073	SO:0001583	missense	309	0	0					g.chr5:150497386G>A	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.1451C>T	chr5.hg19:g.150497386G>A	ENSP00000346550:p.Ser484Phe	0					ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F	p.S484F	NM_001155.4	NP_001146.2	1	2	3	2.006602	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	19	1678	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	1	1	hg19	c.1451C>T	CCDS47315.1	1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899076	0.72754	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.25	5.25	0.73442	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.181657	0.48286	D	0.000185	T	0.33352	0.0860	H	0.95260	3.645	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.72338	0.977;0.869;0.908	T	0.51284	-0.8725	10	0.87932	D	0	.	17.6098	0.88049	0.0:0.0:1.0:0.0	.	277;484;484	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	F	484;452;141;484;277;358	ENSP00000346550:S484F;ENSP00000430517:S452F;ENSP00000366980:S141F;ENSP00000348889:S484F;ENSP00000430420:S277F	ENSP00000346550:S484F	S	-	2	0	0	ANXA6	150477579	150477579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.438000	0.82558	0.561000	0.74099	TCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_001155			28	28		114	112	1		1	1		0	0	34	0		1	1	0	32	0	712	0	28	114
ANXA6	309	broad.mit.edu	37	5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	464					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)			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)			ATTGGTCCGAGTGGCCAGGAT	0.552																																						ENST00000354546.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1390-1392)aCt>aTt		annexin A6							100.0	100.0	100.0					5																	150498908		1894	4107	6001	SO:0001583	missense	309	0	0					g.chr5:150498908G>A	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.1391C>T	chr5.hg19:g.150498908G>A	ENSP00000346550:p.Thr464Ile	0					ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I	p.T464I	NM_001155.4	NP_001146.2	1	2	3	2.006602	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	18	1618	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	1	1	hg19	c.1391C>T	CCDS47315.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920715	0.92249	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.36	5.36	0.76844	5.36	5.36	0.76844	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.87269	2.87	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	0.13335	-1.0513	10	0.87932	D	0	.	17.8553	0.88761	0.0:0.0:1.0:0.0	.	257;464;464	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	464;432;121;464;257;338	ENSP00000346550:T464I;ENSP00000430517:T432I;ENSP00000366980:T121I;ENSP00000348889:T464I;ENSP00000430420:T257I	ENSP00000346550:T464I	T	-	2	0	0	ANXA6	150479101	150479101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	2.502000	0.84385	0.655000	0.94253	ACT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_001155			71	70		286	282	1		1	1		0	0	77	0		1	1	0	14	0	1012	0	71	286
CCDC69	26112	broad.mit.edu	37	5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55										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)			CTTCTGGTGCCGCTCAGCCTC	0.448																																						ENST00000355417.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(163-165)cGg>cAg		coiled-coil domain containing 69		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	163.0	145.0	151.0		164	0.3	0.2	5	dbSNP_134	151	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CCDC69	NM_015621.2	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	55/297	150581210	3,13003	2203	4300	6503	SO:0001583	missense	26112	8	121412	42				g.chr5:150581210C>T		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.164G>A	chr5.hg19:g.150581210C>T	ENSP00000347586:p.Arg55Gln	0					CCDC69_ENST00000521308.1_5'UTR	p.R55Q	NM_015621.2	NP_056436.2	1	2	3	2.006602	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	3	338	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	1	1	hg19	c.164G>A	CCDS4312.1	1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210283	0.06140	2.27E-4	2.33E-4	ENSG00000198624	ENST00000355417	T	0.20598	2.06	4.28	0.265	0.15612	4.28	0.265	0.15612	.	0.987391	0.08243	N	0.975854	T	0.07413	0.0187	N	0.01576	-0.805	0.21355	N	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.23891	T	0.37	-12.4226	7.9704	0.30124	0.0:0.195:0.0:0.805	.	55	A6NI79	CCD69_HUMAN	Q	55	ENSP00000347586:R55Q	ENSP00000347586:R55Q	R	-	2	0	0	CCDC69	150561403	150561403	0.933000	0.31639	0.158000	0.22627	0.025000	0.11179	0.372000	0.20467	-0.012000	0.14223	-1.119000	0.02030	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.176620	1	0.170000	NM_015621			90	85		358	350	1		1	1		0	0	93	0		1	9.999983e-01	0	2	0	76	0	90	358
SLC36A3	285641	broad.mit.edu	37	5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T	rs202009800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	241						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473																																						ENST00000335230.3	1.000000	0.680000	1	8.700000e-01	0.990000	0.954277	0.990000	1.000000																										0				21						c.(721-723)cCc>cAc		solute carrier family 36, member 3							103.0	93.0	97.0					5																	150664259		2203	4300	6503	SO:0001583	missense	285641	0	0					g.chr5:150664259G>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.722C>A	chr5.hg19:g.150664259G>T	ENSP00000334750:p.Pro241His	0					SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	p.P241H	NM_181774.3	NP_861439.3	1	2	3	2.006602	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	1133	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	1	1	hg19	c.722C>A	CCDS4314.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438396	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.35	3.45	0.39498	4.35	3.45	0.39498	.	0.052083	0.85682	N	0.000000	T	0.07548	0.0190	M	0.77103	2.36	0.45354	D	0.99834	B;P;B	0.38223	0.241;0.623;0.258	B;P;B	0.50192	0.202;0.634;0.202	T	0.35992	-0.9766	10	0.15499	T	0.54	.	13.1275	0.59364	0.0:0.0:0.8332:0.1668	.	282;241;226	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	241;282	ENSP00000334750:P241H;ENSP00000366942:P282H	ENSP00000334750:P241H	P	-	2	0	0	SLC36A3	150644452	150644452	1.000000	0.71417	0.864000	0.33941	0.342000	0.28953	6.764000	0.74960	1.125000	0.41998	0.655000	0.94253	CCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-8.222581	1	0.170000	NM_181774			18	16		179	178	0		1			0	0	67	0		9.999839e-01	0	0	0	0	0	0	18	179
SLC36A3	285641	broad.mit.edu	37	5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	114						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438																																						ENST00000335230.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				21						c.(340-342)gCc>gTc		solute carrier family 36, member 3							96.0	77.0	83.0					5																	150672988		2203	4300	6503	SO:0001583	missense	285641	55	121412	48				g.chr5:150672988G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.341C>T	chr5.hg19:g.150672988G>A	ENSP00000334750:p.Ala114Val	0					SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	p.A114V	NM_181774.3	NP_861439.3	1	2	3	2.006602	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	1	1	hg19	c.341C>T	CCDS4314.1	1	.	.	.	.	.	.	.	.	.	.	G	6.365	0.435412	0.12045	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04360	3.64;3.89	4.2	3.34	0.38264	4.2	3.34	0.38264	.	0.227351	0.44285	D	0.000473	T	0.03348	0.0097	N	0.17278	0.47	0.34852	D	0.741785	B;B;B	0.17465	0.007;0.022;0.006	B;B;B	0.23419	0.017;0.046;0.041	T	0.32903	-0.9889	10	0.09843	T	0.71	-0.3054	12.057	0.53540	0.084:0.0:0.916:0.0	.	114;114;58	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	114	ENSP00000334750:A114V;ENSP00000366942:A114V	ENSP00000334750:A114V	A	-	2	0	0	SLC36A3	150653181	150653181	0.998000	0.40836	0.908000	0.35775	0.608000	0.37181	4.935000	0.63498	1.004000	0.39156	0.585000	0.79938	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.824256	1	0.170000	NM_181774			23	23		105	103	1		1			0	0	27	0		9.999997e-01	0	0	0	0	0	0	23	105
SLC36A2	153201	broad.mit.edu	37	5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A	rs539289088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	22					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TTCAGGAGGCGACATAAGGTC	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.002					ENST00000335244.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999469	0.990000	1.000000																										0				33						c.(64-66)tCg>tTg		solute carrier family 36 (proton/amino acid symporter), member 2	Cycloserine(DB00260)						215.0	210.0	212.0					5																	150726957		2203	4300	6503	SO:0001583	missense	153201	7	121412	51				g.chr5:150726957G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.65C>T	chr5.hg19:g.150726957G>A	ENSP00000334223:p.Ser22Leu	0					SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	p.S22L	NM_181776.2	NP_861441.2	1	2	3	2.006602	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	194	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	1	0	hg19	c.65C>T	CCDS4315.1	1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885151	0.33255	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10099	3.73;2.91	5.0	2.2	0.27929	5.0	2.2	0.27929	.	0.695646	0.13942	N	0.352155	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	D;P;B	0.54772	0.968;0.553;0.211	B;B;B	0.33339	0.162;0.118;0.037	T	0.37663	-0.9696	10	0.34782	T	0.22	-0.4317	3.6879	0.08335	0.0901:0.1665:0.5709:0.1725	.	22;22;22	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	22	ENSP00000334223:S22L;ENSP00000430535:S22L	ENSP00000334223:S22L	S	-	2	0	0	SLC36A2	150707150	150707150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.591000	0.23969	0.362000	0.24319	0.655000	0.94253	TCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1	0	0	0		18	2	2	1		1	1	212		212	211	1	2.060000	-20.000000	1	0.170000				113	113		988	963	1		1			1	0	212	0		1	0	0	0	0	0	0	113	988
SLC36A1	206358	broad.mit.edu	37	5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	245					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GAGGATCCCAGACCCCAGCCA	0.458																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(733-735)Gac>Tac		solute carrier family 36 (proton/amino acid symporter), member 1	Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)						180.0	196.0	191.0					5																	150853243		2203	4300	6503	SO:0001583	missense	206358	0	0					g.chr5:150853243G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.733G>T	chr5.hg19:g.150853243G>T	ENSP00000243389:p.Asp245Tyr	0					SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y	p.D245Y	NM_078483.2	NP_510968.2	1	2	3	2.006602	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	8	956	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	1	1	hg19	c.733G>T	CCDS4316.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566284	0.27915	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.32515	4.41;4.41;4.41;1.45	5.34	-0.673	0.11373	5.34	-0.673	0.11373	.	0.550392	0.19839	N	0.104888	T	0.29223	0.0727	M	0.64676	1.99	0.40614	D	0.9817	B;B	0.21606	0.025;0.058	B;B	0.29353	0.075;0.101	T	0.08472	-1.0720	10	0.39692	T	0.17	.	9.5424	0.39260	0.4302:0.0:0.5698:0.0	.	245;245	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Y	245;245;245;245;4	ENSP00000428140:D245Y;ENSP00000243389:D245Y;ENSP00000430305:D245Y;ENSP00000428738:D4Y	ENSP00000243389:D245Y	D	+	1	0	0	SLC36A1	150833436	150833436	0.111000	0.22076	0.872000	0.34217	0.956000	0.61745	0.393000	0.20817	-0.333000	0.08476	0.655000	0.94253	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	1	0	1		2	2	2	0		0	0	204		204	200	1	2.060000	-20.000000	1	0.170000	NM_078483			211	200		942	909	1		1	1		0	0	204	0		1	9.999797e-01	0	5	0	64	0	211	942
FAT2	2196	broad.mit.edu	37	5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4071					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)			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)			CTTGCAACGGCGGCAGTAGAA	0.577																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(12211-12213)cGc>cAc		FAT atypical cadherin 2							66.0	70.0	69.0					5																	150887020		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150887020C>T	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.12212G>A	chr5.hg19:g.150887020C>T	ENSP00000261800:p.Arg4071His	0					CTC-251D13.1_ENST00000606930.1_RNA	p.R4071H	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	22	12224	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.12212G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513696	0.44763	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.6	4.54	0.55810	5.6	4.54	0.55810	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000020	T	0.63510	0.2517	L	0.39147	1.195	0.39358	D	0.965872	B;B	0.19935	0.032;0.04	B;B	0.08055	0.003;0.003	T	0.59397	-0.7462	10	0.23891	T	0.37	.	12.5214	0.56060	0.0:0.863:0.0:0.137	.	4071;1176	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4071	ENSP00000261800:R4071H	ENSP00000261800:R4071H	R	-	2	0	0	FAT2	150867213	150867213	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	2.636000	0.89361	0.655000	0.94253	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	1		21	2	2	1		1	1	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_001447			79	79		378	371	1		1			1	0	69	0		1	0	0	0	0	0	0	79	378
FAT2	2196	broad.mit.edu	37	5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3003	Cadherin 26. {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)			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)			TCATTGACGTCCAGGACAAAG	0.547																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999676	0.990000	1.000000																										0				196						c.(9007-9009)Gac>Aac		FAT atypical cadherin 2							94.0	79.0	84.0					5																	150920160		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150920160C>T	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.9007G>A	chr5.hg19:g.150920160C>T	ENSP00000261800:p.Asp3003Asn	0						p.D3003N	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	10	9019	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.9007G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.367829	0.95900	.	.	ENSG00000086570	ENST00000261800	T	0.03468	3.92	5.12	5.12	0.69794	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.24236	0.0587	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03773	-1.1005	10	0.52906	T	0.07	.	18.5669	0.91120	0.0:1.0:0.0:0.0	.	3003	Q9NYQ8	FAT2_HUMAN	N	3003	ENSP00000261800:D3003N	ENSP00000261800:D3003N	D	-	1	0	0	FAT2	150900353	150900353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.755000	0.85180	2.401000	0.81631	0.462000	0.41574	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_001447			27	26		166	162	1		1			0	0	40	0		1	0	0	0	0	0	0	27	166
FAT2	2196	broad.mit.edu	37	5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1808	Cadherin 16. {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)			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)			ACTTCAAGGCCTCCGGCTCCA	0.413																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(5422-5424)gaG>gaT		FAT atypical cadherin 2							54.0	56.0	55.0					5																	150925264		2202	4300	6502	SO:0001583	missense	2196	0	0					g.chr5:150925264C>A	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.5424G>T	chr5.hg19:g.150925264C>A	ENSP00000261800:p.Glu1808Asp	0						p.E1808D	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	9	5436	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.5424G>T	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492075	0.26774	.	.	ENSG00000086570	ENST00000261800	T	0.59083	0.29	5.25	0.888	0.19206	5.25	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.58090	0.2098	L	0.33624	1.015	0.33432	D	0.581211	D	0.76494	0.999	D	0.72075	0.976	T	0.60469	-0.7257	10	0.11485	T	0.65	.	11.0364	0.47804	0.0:0.5115:0.0:0.4885	.	1808	Q9NYQ8	FAT2_HUMAN	D	1808	ENSP00000261800:E1808D	ENSP00000261800:E1808D	E	-	3	2	2	FAT2	150905457	150905457	0.922000	0.31269	0.215000	0.23724	0.968000	0.65278	0.106000	0.15354	-0.076000	0.12775	0.467000	0.42956	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-4.355268	1	0.170000	NM_001447			114	110		397	389	1		1			0	0	104	0		1	0	0	0	0	0	0	114	397
FAT2	2196	broad.mit.edu	37	5	150925761	150925761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1643	Cadherin 14. {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)			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)			ACTGTAGCCAGGTCATGCCAT	0.463																																						ENST00000261800.5	1.000000	0.410000	9.100000e-01	5.400000e-01	0.690000	0.714856	0.690000	1.000000																										0				196						c.(4927-4929)Ctg>Ttg		FAT atypical cadherin 2							124.0	120.0	121.0					5																	150925761		2203	4300	6503	SO:0001819	synonymous_variant	2196	0	0					g.chr5:150925761G>A	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.4927C>T	chr5.hg19:g.150925761G>A		0						p.L1643L	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	9	4939	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	1	1	hg19	c.4927C>T	CCDS4317.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-3.077847	1	0.170000	NM_001447			17	17		283	277	0		1	0		0	0	75	0		9.999630e-01	0	0	0	0	1	0	17	283
FAT2	2196	broad.mit.edu	37	5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1512	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CCGAGGTCCAATTTTCCCACC	0.527																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(4534-4536)Ttg>Gtg		FAT atypical cadherin 2							96.0	88.0	91.0					5																	150930195		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150930195A>C	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.4534T>G	chr5.hg19:g.150930195A>C	ENSP00000261800:p.Leu1512Val	0						p.L1512V	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	4546	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.4534T>G	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878017	0.33162	.	.	ENSG00000086570	ENST00000261800	T	0.73152	-0.72	4.96	-1.55	0.08558	4.96	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	0.136124	0.32901	N	0.005516	D	0.83408	0.5248	M	0.92604	3.325	0.40652	D	0.982044	D	0.64830	0.994	D	0.63597	0.916	T	0.82872	-0.0242	10	0.72032	D	0.01	.	10.8168	0.46580	0.3463:0.0:0.6537:0.0	.	1512	Q9NYQ8	FAT2_HUMAN	V	1512	ENSP00000261800:L1512V	ENSP00000261800:L1512V	L	-	1	2	2	FAT2	150910388	150910388	0.976000	0.34144	0.423000	0.26634	0.024000	0.10985	0.208000	0.17415	-0.781000	0.04548	-0.248000	0.11899	TTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-20.000000	1	0.170000	NM_001447			89	84		296	283	1		1			0	0	66	0		1	0	0	0	0	0	0	89	296
FAT2	2196	broad.mit.edu	37	5	150930355	150930355	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1458	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CGGTGTCCTGGGGAACTCTGA	0.527																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				196						c.(4372-4374)ccC>ccA		FAT atypical cadherin 2							92.0	85.0	87.0					5																	150930355		2203	4300	6503	SO:0001819	synonymous_variant	2196	0	0					g.chr5:150930355G>T	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.4374C>A	chr5.hg19:g.150930355G>T		0						p.P1458P	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	7	4386	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	1	1	hg19	c.4374C>A	CCDS4317.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.797192	1	0.170000	NM_001447			36	34		168	165	1		1			0	0	47	0		1	0	0	0	0	0	0	36	168
FAT2	2196	broad.mit.edu	37	5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1289	Cadherin 11. {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)			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)			CTGAAGGCCTCCTCATCGCTG	0.547																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(3865-3867)Gag>Aag		FAT atypical cadherin 2							144.0	123.0	130.0					5																	150934003		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150934003C>T	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.3865G>A	chr5.hg19:g.150934003C>T	ENSP00000261800:p.Glu1289Lys	0						p.E1289K	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	3877	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.3865G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725474	0.30593	.	.	ENSG00000086570	ENST00000261800	T	0.01705	4.68	5.46	5.46	0.80206	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.339974	0.26207	N	0.025707	T	0.02267	0.0070	L	0.35341	1.055	0.37125	D	0.901	B	0.13594	0.008	B	0.19666	0.026	T	0.54768	-0.8244	10	0.10902	T	0.67	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1289	Q9NYQ8	FAT2_HUMAN	K	1289	ENSP00000261800:E1289K	ENSP00000261800:E1289K	E	-	1	0	0	FAT2	150914196	150914196	0.271000	0.24162	0.935000	0.37517	0.399000	0.30720	2.378000	0.44309	2.713000	0.92767	0.655000	0.94253	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_001447			100	99		396	391	1		1			0	0	92	0		1	0	0	0	0	0	0	100	396
FAT2	2196	broad.mit.edu	37	5	150945633	150945633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	954	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)			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)			GCGGGGCCCAGGTCAGGATCA	0.587																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999337	0.990000	1.000000																										0				196						c.(2860-2862)Ctg>Ttg		FAT atypical cadherin 2							51.0	53.0	52.0					5																	150945633		2203	4300	6503	SO:0001819	synonymous_variant	2196	1	121412	28				g.chr5:150945633G>A	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.2860C>T	chr5.hg19:g.150945633G>A		0						p.L954L	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	2872	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	1	1	hg19	c.2860C>T	CCDS4317.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_001447			30	29		203	200	1		1			0	0	58	0		1	0	0	0	0	0	0	30	203
FAT2	2196	broad.mit.edu	37	5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3. {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)			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)			CAACCCAGTTCGAGCATTAAG	0.537																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(1231-1233)cGa>cAa		FAT atypical cadherin 2							101.0	96.0	97.0					5																	150947261		2203	4300	6503	SO:0001583	missense	2196	1	121412	34				g.chr5:150947261C>T	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.1232G>A	chr5.hg19:g.150947261C>T	ENSP00000261800:p.Arg411Gln	0						p.R411Q	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.1232G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294508	0.23564	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.59	2.72	0.32119	5.59	2.72	0.32119	Cadherin (3);Cadherin-like (1);	0.430470	0.22979	N	0.053331	T	0.34454	0.0898	L	0.37466	1.105	0.09310	N	1	P	0.37158	0.585	B	0.25140	0.058	T	0.13656	-1.0501	10	0.13108	T	0.6	.	6.1698	0.20410	0.0:0.4562:0.0:0.5437	.	411	Q9NYQ8	FAT2_HUMAN	Q	411	ENSP00000261800:R411Q	ENSP00000261800:R411Q	R	-	2	0	0	FAT2	150927454	150927454	1.000000	0.71417	0.414000	0.26521	0.891000	0.51852	1.743000	0.38258	0.675000	0.31264	0.561000	0.74099	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		18	2	2	1		1	1	70		70	70	1	2.060000	-4.300479	1	0.170000	NM_001447			88	84		292	290	1		1	0		1	0	70	0		1	0	0	0	0	1	0	88	292
FAT2	2196	broad.mit.edu	37	5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T	rs372731700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> A (in dbSNP:rs11739693).		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)			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)			GTGACCACACCGCTGGTGGGA	0.532																																						ENST00000261800.5	1.000000	0.930000	1	9.900000e-01	0.990000	0.996278	0.990000	1.000000																										0				196						c.(601-603)Ggt>Agt		FAT atypical cadherin 2							89.0	81.0	84.0					5																	150947892		2203	4300	6503	SO:0001583	missense	2196	5	121412	41				g.chr5:150947892C>T	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.601G>A	chr5.hg19:g.150947892C>T	ENSP00000261800:p.Gly201Ser	0						p.G201S	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	613	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.601G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847465	0.91277	.	.	ENSG00000086570	ENST00000261800	D	0.91407	-2.84	5.61	5.61	0.85477	5.61	5.61	0.85477	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.97480	0.9175	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	201	Q9NYQ8	FAT2_HUMAN	S	201	ENSP00000261800:G201S	ENSP00000261800:G201S	G	-	1	0	0	FAT2	150928085	150928085	1.000000	0.71417	0.186000	0.23195	0.863000	0.49368	7.755000	0.85180	2.643000	0.89663	0.555000	0.69702	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-2.522914	1	0.170000	NM_001447			44	44		372	366	1		1			0	0	83	0		1	0	0	0	0	0	0	44	372
FAT2	2196	broad.mit.edu	37	5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	50	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)			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)			TCCACATAGGTCTTGGGAGAA	0.502																																						ENST00000261800.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				196						c.(148-150)Acc>Gcc		FAT atypical cadherin 2							118.0	120.0	119.0					5																	150948345		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150948345T>C	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.148A>G	chr5.hg19:g.150948345T>C	ENSP00000261800:p.Thr50Ala	0						p.T50A	NM_001447.2	NP_001438.1	1	2	3	2.006602	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	160	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.148A>G	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547644	0.86022	.	.	ENSG00000086570	ENST00000261800	T	0.72051	-0.62	5.36	5.36	0.76844	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.82195	0.4984	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	P	0.58266	0.836	D	0.85066	0.0937	10	0.66056	D	0.02	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	50	Q9NYQ8	FAT2_HUMAN	A	50	ENSP00000261800:T50A	ENSP00000261800:T50A	T	-	1	0	0	FAT2	150928538	150928538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.023000	0.59567	0.459000	0.35465	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_001447			147	143		624	616	1		1			0	0	129	0		1	0	0	0	0	0	0	147	624
G3BP1	10146	broad.mit.edu	37	5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	13	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				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)			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)			GCTGGTCGGGCGGGAATTTGT	0.468																																						ENST00000394123.3	1.000000	0.770000	1	8.900000e-01	0.990000	0.961144	0.990000	1.000000																										0				29						c.(37-39)Cgg>Tgg		GTPase activating protein (SH3 domain) binding protein 1							141.0	137.0	138.0					5																	151166218		2203	4300	6503	SO:0001583	missense	10146	0	0					g.chr5:151166218C>T	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.37C>T	chr5.hg19:g.151166218C>T	ENSP00000377681:p.Arg13Trp	0					G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W|G3BP1_ENST00000543466.1_5'UTR	p.R13W			1	2	3	2.006602	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	2	182	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	1	1	hg19	c.37C>T	CCDS4319.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374603	0.82573	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.71103	-0.54;-0.54	5.05	3.25	0.37280	5.05	3.25	0.37280	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.45352	1.415	0.80722	D	1	D;B	0.89917	1.0;0.151	D;B	0.69824	0.966;0.02	T	0.76323	-0.3001	10	0.72032	D	0.01	-12.1306	11.0913	0.48117	0.0:0.8489:0.0:0.1511	.	13;13	E5RJU8;Q13283	.;G3BP1_HUMAN	W	13	ENSP00000377681:R13W;ENSP00000348578:R13W	ENSP00000274596:R13W	R	+	1	2	2	G3BP1	151146411	151146411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.519000	0.60517	0.641000	0.30601	0.491000	0.48974	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-13.369580	1	0.170000	NM_005754			53	53		566	544	1		1	1		0	0	154	0		1	1	0	38	0	295	0	53	566
G3BP1	10146	broad.mit.edu	37	5	151175110	151175110	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Silent_p.G171G			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	171	Glu-rich.				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)			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)			ATGATTCTGGAACTTTCTATG	0.408																																						ENST00000394123.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(511-513)ggA>ggC		GTPase activating protein (SH3 domain) binding protein 1							144.0	152.0	149.0					5																	151175110		2203	4300	6503	SO:0001819	synonymous_variant	10146	1	121412	34				g.chr5:151175110A>C	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.513A>C	chr5.hg19:g.151175110A>C		0					G3BP1_ENST00000356245.3_Silent_p.G171G|G3BP1_ENST00000543466.1_5'UTR	p.G171G			1	2	3	2.006602	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	6	658	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Q5HYE9	Silent	SNP	ENST00000394123.3	1	1	hg19	c.513A>C	CCDS4319.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_005754			92	92		412	406	1		1	1		0	0	97	0		1	1	0	85	0	242	0	92	412
G3BP1	10146	broad.mit.edu	37	5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C|G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	404	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			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)			CATGTTCAGAGGTGAGGTCCG	0.502																																						ENST00000394123.3	1.000000	0.550000	1	6.700000e-01	0.810000	0.820200	0.810000	1.000000																										0				29						c.(1210-1212)Ggt>Tgt		GTPase activating protein (SH3 domain) binding protein 1							67.0	67.0	67.0					5																	151183461		2203	4300	6503	SO:0001583	missense	10146	0	0					g.chr5:151183461G>T	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.1210G>T	chr5.hg19:g.151183461G>T	ENSP00000377681:p.Gly404Cys	0					G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C|G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C	p.G404C			1	2	3	2.006602	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	12	1355	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	1	1	hg19	c.1210G>T	CCDS4319.1	0	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223942	0.58668	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.80304	-1.24;-1.36;-1.24	5.51	5.51	0.81932	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.046297	0.85682	D	0.000000	T	0.80884	0.4709	L	0.60455	1.87	0.80722	D	1	P	0.38420	0.63	B	0.38616	0.277	T	0.82744	-0.0306	10	0.87932	D	0	0.4932	19.7859	0.96437	0.0:0.0:1.0:0.0	.	404	Q13283	G3BP1_HUMAN	C	404;222;404;246	ENSP00000377681:G404C;ENSP00000445035:G222C;ENSP00000348578:G404C	ENSP00000274596:G246C	G	+	1	0	0	G3BP1	151163654	151163654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.018000	0.93657	2.746000	0.94184	0.655000	0.94253	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.017774	1	0.170000	NM_005754			29	29		401	391	1		1	1		0	0	73	0		1	9.999999e-01	0	51	0	323	0	29	401
GLRA1	2741	broad.mit.edu	37	5	151208548	151208548	+	Silent	SNP	G	G	A	rs17112272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151208548G>A	ENST00000455880.2	-	8	1279	c.993C>T	c.(991-993)gcC>gcT	p.A331A	GLRA1_ENST00000545569.1_Silent_p.A248A|GLRA1_ENST00000274576.4_Silent_p.A331A			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	331					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAAGTTAACGGCAGCATATT	0.512													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		19951	0.0		0.0	False		,,,				2504	0.0					ENST00000455880.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(991-993)gcC>gcT		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	,	55,4351	55.5+/-91.7	0,55,2148	123.0	119.0	120.0		993,993	-7.3	0.2	5	dbSNP_123	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	0,55,6448	AA,AG,GG		0.0,1.2483,0.4229	,	331/450,331/458	151208548	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	2741	174	121412	57				g.chr5:151208548G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.993C>T	chr5.hg19:g.151208548G>A		0					GLRA1_ENST00000545569.1_Silent_p.A248A|GLRA1_ENST00000274576.4_Silent_p.A331A	p.A331A			1	2	3	2.006602	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	8	1279	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	1	0	hg19	c.993C>T	CCDS54942.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-2.649871	1	0.170000				151	150		559	543	1		1			0	0	134	0		1	0	0	0	0	0	0	151	559
NMUR2	56923	broad.mit.edu	37	5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	342					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)			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)			GAAAGAAGAGATCACATTCTG	0.527																																						ENST00000255262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1024-1026)aTc>aGc		neuromedin U receptor 2							141.0	132.0	135.0					5																	151771975		2203	4300	6503	SO:0001583	missense	56923	0	0					g.chr5:151771975A>C	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.1025T>G	chr5.hg19:g.151771975A>C	ENSP00000255262:p.Ile342Ser	0						p.I342S	NM_020167.4	NP_064552.3	1	2	3	2.006602	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)	4	1190	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	1	1	hg19	c.1025T>G	CCDS4321.1	1	.	.	.	.	.	.	.	.	.	.	A	8.584	0.883000	0.17467	.	.	ENSG00000132911	ENST00000255262	T	0.39056	1.1	4.79	3.61	0.41365	4.79	3.61	0.41365	.	0.209202	0.33005	N	0.005396	T	0.39145	0.1067	L	0.56769	1.78	0.38254	D	0.941691	B	0.17465	0.022	B	0.10450	0.005	T	0.39035	-0.9633	10	0.87932	D	0	-24.3878	10.7901	0.46428	0.8405:0.1595:0.0:0.0	.	342	Q9GZQ4	NMUR2_HUMAN	S	342	ENSP00000255262:I342S	ENSP00000255262:I342S	I	-	2	0	0	NMUR2	151752168	151752168	1.000000	0.71417	0.818000	0.32626	0.118000	0.20060	3.330000	0.52068	0.771000	0.33359	-0.644000	0.03951	ATC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	1	0	0		2	2	2	0		0	0	109		109	104	1	2.060000	-20.000000	1	0.170000	NM_020167			118	116		476	462	1		1	0		0	0	109	0		1	0	0	1	0	0	0	118	476
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					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.P151R(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)			GGCGCGGAACGGGTGTAGGAT	0.642																																						ENST00000255262.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P151R(1)	lung(1)	44						c.(451-453)cCg>cTg		neuromedin U receptor 2							49.0	55.0	53.0					5																	151784223		2203	4300	6503	SO:0001583	missense	56923	6	121410	39				g.chr5:151784223G>A	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.452C>T	chr5.hg19:g.151784223G>A	ENSP00000255262:p.Pro151Leu	0					NMUR2_ENST00000518933.1_Intron	p.P151L	NM_020167.4	NP_064552.3	1	2	3	2.006602	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)	1	617	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	1	1	hg19	c.452C>T	CCDS4321.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545940	0.86022	.	.	ENSG00000132911	ENST00000255262	T	0.61274	0.12	5.35	5.35	0.76521	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88036	0.6329	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93720	0.7032	10	0.87932	D	0	-21.6404	18.0632	0.89383	0.0:0.0:1.0:0.0	.	151	Q9GZQ4	NMUR2_HUMAN	L	151	ENSP00000255262:P151L	ENSP00000255262:P151L	P	-	2	0	0	NMUR2	151764416	151764416	1.000000	0.71417	0.946000	0.38457	0.607000	0.37147	9.507000	0.97996	2.502000	0.84385	0.591000	0.81541	CCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.813049	1	0.170000	NM_020167			94	91		398	393	1		1			0	0	67	0		1	0	0	0	0	0	0	94	398
GRIA1	2890	broad.mit.edu	37	5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000285900.5	+	2	555	c.212C>T	c.(211-213)aCc>aTc	p.T71I	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	71					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTGAGATGACCTATAGATGT	0.458																																						ENST00000285900.5	1.000000	0.250000	6.200000e-01	3.400000e-01	0.450000	0.497970	0.450000	0.440000																										0				81						c.(211-213)aCc>aTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)						84.0	85.0	85.0					5																	152873617		2203	4300	6503	SO:0001583	missense	2890	0	0					g.chr5:152873617C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.212C>T	chr5.hg19:g.152873617C>T	ENSP00000285900:p.Thr71Ile	0					GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I	p.T71I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	1	2	3	2.006602	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	2	555	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	1	1	hg19	c.212C>T	CCDS4322.1	0	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437375	0.43224	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.26067	1.97;1.76;1.97;2.58;2.56;1.97;1.97	5.48	5.48	0.80851	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.206078	0.49916	D	0.000127	T	0.44829	0.1312	L	0.50333	1.59	0.51767	D	0.999932	D;D;D;D;D;P	0.60575	0.988;0.988;0.985;0.988;0.985;0.936	P;P;P;P;P;P	0.61477	0.696;0.696;0.889;0.696;0.57;0.614	T	0.34527	-0.9825	10	0.87932	D	0	.	18.3214	0.90239	0.0:1.0:0.0:0.0	.	81;81;71;81;71;71	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	I	71;71;71;71;2;2;81;81	ENSP00000285900:T71I;ENSP00000427920:T71I;ENSP00000339343:T71I;ENSP00000427864:T2I;ENSP00000442108:T2I;ENSP00000428994:T81I;ENSP00000415569:T81I	ENSP00000285900:T71I	T	+	2	0	0	GRIA1	152853810	152853810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.548000	0.85928	0.655000	0.94253	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-14.116400	1	0.170000				14	14		367	362	0		1			0	0	82	0		9.997432e-01	0	0	0	0	0	0	14	367
GRIA1	2890	broad.mit.edu	37	5	153056565	153056565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518783.1_Silent_p.A301A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527																																						ENST00000285900.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(871-873)gcG>gcA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)						85.0	83.0	83.0					5																	153056565		2203	4300	6503	SO:0001819	synonymous_variant	2890	1	121346	33				g.chr5:153056565G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.873G>A	chr5.hg19:g.153056565G>A		0					GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518783.1_Silent_p.A301A	p.A291A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	1	2	3	2.006602	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	7	1216	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	1	1	hg19	c.873G>A	CCDS4322.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				70	67		237	231	1		1	0		0	0	67	0		1	0	0	0	0	1	0	70	237
MFAP3	4238	broad.mit.edu	37	5	153433216	153433216	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000322602.5_Silent_p.G344G|MFAP3_ENST00000439768.2_Silent_p.G198G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	344					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418																																						ENST00000436816.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1030-1032)ggA>ggG		microfibrillar-associated protein 3							91.0	90.0	91.0					5																	153433216		2203	4300	6503	SO:0001819	synonymous_variant	4238	0	0					g.chr5:153433216A>G		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1032A>G	chr5.hg19:g.153433216A>G		0					MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	1	2	3	2.006602	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	3	1251	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	1	1	hg19	c.1032A>G	CCDS4324.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_005927			121	120		448	441	1		1	1		0	0	121	0		1	9.999999e-01	0	13	0	74	0	121	448
GALNT10	55568	broad.mit.edu	37	5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	137					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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572																																						ENST00000297107.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(409-411)aGc>aAc		polypeptide N-acetylgalactosaminyltransferase 10							149.0	114.0	126.0					5																	153709140		2203	4300	6503	SO:0001583	missense	55568	0	0					g.chr5:153709140G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.410G>A	chr5.hg19:g.153709140G>A	ENSP00000297107:p.Ser137Asn	0					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N|GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N	p.S137N	NM_198321.3	NP_938080.1	1	2	3	2.006602	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)	4	547	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	1	1	hg19	c.410G>A	CCDS4325.1	1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131167	0.21041	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59224	0.28;0.28;0.28	5.28	0.487	0.16842	5.28	0.487	0.16842	.	0.370552	0.30840	N	0.008778	T	0.32010	0.0815	N	0.11892	0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06338	-1.0832	10	0.14656	T	0.56	.	9.373	0.38266	0.5571:0.0:0.4429:0.0	.	137;137;137	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	137	ENSP00000415210:S137N;ENSP00000297107:S137N;ENSP00000366889:S137N	ENSP00000297107:S137N	S	+	2	0	0	GALNT10	153689333	153689333	0.987000	0.35691	0.989000	0.46669	0.997000	0.91878	1.249000	0.32839	0.003000	0.14656	0.655000	0.94253	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_198321			79	78		309	301	1		1	1		0	0	87	0		1	1	0	36	0	125	0	79	309
GALNT10	55568	broad.mit.edu	37	5	153795488	153795488	+	Missense_Mutation	SNP	G	G	A	rs145995359	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153795488G>A	ENST00000297107.6	+	11	1786	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	550	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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGAAATACCGCAAAGTAAGA	0.507																																						ENST00000297107.6	1.000000	0.280000	6.700000e-01	3.800000e-01	0.490000	0.537081	0.490000	0.480000																										0				32						c.(1648-1650)cGc>cAc		polypeptide N-acetylgalactosaminyltransferase 10		G	HIS/ARG	3,4403	8.1+/-20.4	0,3,2200	75.0	70.0	72.0		1649	5.6	1.0	5	dbSNP_134	72	0,8600		0,0,4300	yes	missense	GALNT10	NM_198321.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	550/604	153795488	3,13003	2203	4300	6503	SO:0001583	missense	55568	5	121412	43				g.chr5:153795488G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1649G>A	chr5.hg19:g.153795488G>A	ENSP00000297107:p.Arg550His	0					SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H	p.R550H	NM_198321.3	NP_938080.1	1	2	3	2.006602	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)	11	1786	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	0	1	hg19	c.1649G>A	CCDS4325.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056003	0.76074	6.81E-4	0.0	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27720	1.65;1.65;1.65	5.6	5.6	0.85130	5.6	5.6	0.85130	Ricin B-related lectin (1);Ricin B lectin (3);	0.168500	0.52532	D	0.000071	T	0.53061	0.1773	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.69078	0.997;0.961;0.957	D;B;B	0.66847	0.947;0.287;0.263	T	0.47598	-0.9105	10	0.48119	T	0.1	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	488;221;550	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	H	550;488;223	ENSP00000297107:R550H;ENSP00000366889:R488H;ENSP00000366885:R223H	ENSP00000297107:R550H	R	+	2	0	0	GALNT10	153775681	153775681	1.000000	0.71417	0.961000	0.40146	0.889000	0.51656	7.375000	0.79646	2.627000	0.88993	0.655000	0.94253	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.277487	1	0.170000	NM_198321			15	15		357	351	0		1	1		0	0	84	0		9.998628e-01	9.244850e-01	0	2	0	106	0	15	357
LARP1	23367	broad.mit.edu	37	5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198					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)			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)			CAGCCTACCCGTAAACTGCCA	0.498																																						ENST00000336314.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(361-363)cGt>cAt		La ribonucleoprotein domain family, member 1							195.0	183.0	187.0					5																	154172210		2203	4300	6503	SO:0001583	missense	23367	0	0					g.chr5:154172210G>A	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.362G>A	chr5.hg19:g.154172210G>A	ENSP00000336721:p.Arg121His	0						p.R121H	NM_015315.3	NP_056130.2	1	2	3	2.006602	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	4	386	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	1	1	hg19	c.362G>A	CCDS4328.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629404	0.87660	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.44083	1.87;0.93	5.93	5.06	0.68205	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.54287	0.1849	L	0.41492	1.28	0.44956	D	0.997972	D;D	0.76494	0.997;0.999	P;D	0.66716	0.607;0.946	T	0.55921	-0.8064	10	0.54805	T	0.06	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	121;198	ENSP00000336721:R121H;ENSP00000428589:R198H	ENSP00000336721:R121H	R	+	2	0	0	LARP1	154152403	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	1		2	2	2	0		0	0	197		197	192	1	2.060000	-20.000000	1	0.170000	NM_033551			133	132		610	591	1		1	1		0	0	197	0		1	1	0	55	0	187	0	133	610
LARP1	23367	broad.mit.edu	37	5	154174798	154174798	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	432					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)			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)			AAATGGATGCTGATGGTTTCC	0.478																																						ENST00000336314.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1063-1065)gcT>gcC		La ribonucleoprotein domain family, member 1							187.0	155.0	166.0					5																	154174798		2203	4300	6503	SO:0001819	synonymous_variant	23367	0	0					g.chr5:154174798T>C	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.1065T>C	chr5.hg19:g.154174798T>C		0						p.A355A	NM_015315.3	NP_056130.2	1	2	3	2.006602	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	8	1089	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	1	1	hg19	c.1065T>C	CCDS4328.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_033551			86	86		275	271	1		1	1		0	0	82	0		1	1	0	52	0	110	0	86	275
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		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																																						ENST00000336314.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E555D(1)	large_intestine(1)	33						c.(1432-1434)gaG>gaA		La ribonucleoprotein domain family, member 1							64.0	60.0	61.0					5																	154179551		2203	4300	6503	SO:0001819	synonymous_variant	23367	11	121412	38				g.chr5:154179551G>A	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>A	chr5.hg19:g.154179551G>A		0						p.E478E	NM_015315.3	NP_056130.2	1	2	3	2.006602	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	10	1458	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	1	1	hg19	c.1434G>A	CCDS4328.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_033551			56	56		220	217	0		1	1		0	0	49	0		1	1	0	39	0	159	0	56	220
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A	rs541398809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			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)			CTTCACCTACGATTTTGTGTT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18375	0.001		0.0	False		,,,				2504	0.0					ENST00000435029.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(154-156)Gat>Aat		kinesin family member 4B							106.0	104.0	105.0					5																	154393573		2203	4300	6503	SO:0001583	missense	285643	1	121412	31				g.chr5:154393573G>A	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.154G>A	chr5.hg19:g.154393573G>A	ENSP00000387875:p.Asp52Asn	0						p.D52N	NM_001099293.1	NP_001092763.1	1	2	3	2.006602	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	1	314	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)		Missense_Mutation	SNP	ENST00000435029.4	1	1	hg19	c.154G>A	CCDS47324.1	1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.776280	0.49786	.	.	ENSG00000226650	ENST00000435029	D	0.82619	-1.63	1.48	1.48	0.22813	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.86598	0.5971	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	P	0.61003	0.882	D	0.85022	0.0912	9	0.46703	T	0.11	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	52	Q2VIQ3	KIF4B_HUMAN	N	52	ENSP00000387875:D52N	ENSP00000387875:D52N	D	+	1	0	0	KIF4B	154373766	154373766	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	6.342000	0.72982	1.138000	0.42230	0.563000	0.77884	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				53	52		252	250	1		1			0	0	56	0		1	0	0	0	0	0	0	53	252
KIF4B	285643	broad.mit.edu	37	5	154393593	154393593	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			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)			TTGACCCCTGTACTGAGCAGG	0.502																																						ENST00000435029.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(172-174)tgT>tgC		kinesin family member 4B							99.0	98.0	99.0					5																	154393593		2203	4300	6503	SO:0001819	synonymous_variant	285643	0	0					g.chr5:154393593T>C	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.174T>C	chr5.hg19:g.154393593T>C		0						p.C58C	NM_001099293.1	NP_001092763.1	1	2	3	2.006602	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	1	334	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)		Silent	SNP	ENST00000435029.4	1	1	hg19	c.174T>C	CCDS47324.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000				60	59		279	277	1		1			0	0	63	0		1	0	0	0	0	0	0	60	279
KIF4B	285643	broad.mit.edu	37	5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	665	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)			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)			TAGACAATGGAAGCAGAAAAA	0.398																																						ENST00000435029.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1993-1995)Aag>Gag		kinesin family member 4B							144.0	146.0	145.0					5																	154395412		2203	4300	6503	SO:0001583	missense	285643	0	0					g.chr5:154395412A>G	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.1993A>G	chr5.hg19:g.154395412A>G	ENSP00000387875:p.Lys665Glu	0						p.K665E	NM_001099293.1	NP_001092763.1	1	2	3	2.006602	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	1	2153	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)		Missense_Mutation	SNP	ENST00000435029.4	1	1	hg19	c.1993A>G	CCDS47324.1	1	.	.	.	.	.	.	.	.	.	.	a	16.29	3.082917	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.10860	2.83	2.54	2.54	0.30619	2.54	2.54	0.30619	.	.	.	.	.	T	0.24812	0.0602	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09574	-1.0668	9	0.16420	T	0.52	.	8.5427	0.33402	1.0:0.0:0.0:0.0	.	665	Q2VIQ3	KIF4B_HUMAN	E	665	ENSP00000387875:K665E	ENSP00000387875:K665E	K	+	1	0	0	KIF4B	154375605	154375605	1.000000	0.71417	0.979000	0.43373	0.824000	0.46624	5.781000	0.68964	0.939000	0.37446	0.460000	0.39030	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	0		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000				112	108		525	521	1		1			0	0	127	0		1	0	0	0	0	0	0	112	525
KIF4B	285643	broad.mit.edu	37	5	154395477	154395477	+	Silent	SNP	G	G	A	rs371063141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	686	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)			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)			AATATGAGCTGCTCAAACTTG	0.428																																						ENST00000435029.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(2056-2058)ctG>ctA		kinesin family member 4B							119.0	122.0	121.0					5																	154395477		2203	4300	6503	SO:0001819	synonymous_variant	285643	0	0					g.chr5:154395477G>A	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.2058G>A	chr5.hg19:g.154395477G>A		0						p.L686L	NM_001099293.1	NP_001092763.1	1	2	3	2.006602	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)	1	2218	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)		Silent	SNP	ENST00000435029.4	1	1	hg19	c.2058G>A	CCDS47324.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	0		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000				132	131		477	467	1		1			0	0	112	0		1	0	0	0	0	0	0	132	477
TIMD4	91937	broad.mit.edu	37	5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	101	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493																																						ENST00000274532.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(301-303)aAc>aCc		T-cell immunoglobulin and mucin domain containing 4							105.0	93.0	97.0					5																	156381524		2203	4300	6503	SO:0001583	missense	91937	0	0					g.chr5:156381524T>G	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.302A>C	chr5.hg19:g.156381524T>G	ENSP00000274532:p.Asn101Thr	0					TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	p.N101T	NM_138379.2	NP_612388.2	1	2	3	2.006602	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	358	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	1	1	hg19	c.302A>C	CCDS4332.1	1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415032	0.62511	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03717	3.83;3.83	5.54	4.37	0.52481	5.54	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415179	0.23091	N	0.052024	T	0.13841	0.0335	M	0.87097	2.86	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.52627	0.704;0.704	T	0.07290	-1.0780	10	0.66056	D	0.02	-12.6664	10.9502	0.47325	0.0:0.074:0.0:0.926	.	101;101	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	101	ENSP00000274532:N101T;ENSP00000385973:N101T	ENSP00000274532:N101T	N	-	2	0	0	TIMD4	156314102	156314102	0.201000	0.23410	0.019000	0.16419	0.012000	0.07955	3.545000	0.53648	0.935000	0.37341	0.533000	0.62120	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_138379			61	60		264	262	1		1	0		0	0	73	0		1	3.641754e-02	0	0	0	2	0	61	264
HAVCR1	26762	broad.mit.edu	37	5	156479385	156479385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156479385C>T	ENST00000339252.3	-	3	1192	c.660G>A	c.(658-660)caG>caA	p.Q220Q	HAVCR1_ENST00000425854.1_Silent_p.Q220Q|HAVCR1_ENST00000523175.1_Silent_p.Q220Q|HAVCR1_ENST00000544197.1_Silent_p.Q220Q|HAVCR1_ENST00000522693.1_Silent_p.Q220Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	215					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			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)			GTTCATGGTTCTGCCTGGGCA	0.488																																						ENST00000339252.3	1.000000	0.760000	1	8.700000e-01	0.990000	0.954087	0.990000	1.000000																										0				28						c.(658-660)caG>caA		hepatitis A virus cellular receptor 1							164.0	158.0	160.0					5																	156479385		2024	4168	6192	SO:0001819	synonymous_variant	26762	1	120956	32				g.chr5:156479385C>T	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.660G>A	chr5.hg19:g.156479385C>T		0					HAVCR1_ENST00000425854.1_Silent_p.Q220Q|HAVCR1_ENST00000522693.1_Silent_p.Q220Q|HAVCR1_ENST00000523175.1_Silent_p.Q220Q|HAVCR1_ENST00000544197.1_Silent_p.Q220Q	p.Q220Q	NM_012206.2	NP_036338.2	1	2	3	2.006602	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	3	1192	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	O43656	Silent	SNP	ENST00000339252.3	1	0	hg19	c.660G>A	CCDS43392.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-14.502350	1	0.170000				59	58		646	635	0		1	0		0	0	158	0		1	3.872042e-02	0	1	0	3	0	59	646
FAM71B	153745	broad.mit.edu	37	5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	602						nucleus (GO:0005634)				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)			ATGGATTTGGTTTCAAAGACG	0.498																																						ENST00000302938.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.998367	0.990000	1.000000																										0				68						c.(1804-1806)Acc>Ccc		family with sequence similarity 71, member B							147.0	151.0	149.0					5																	156589472		2203	4300	6503	SO:0001583	missense	153745	0	0					g.chr5:156589472T>G		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.1804A>C	chr5.hg19:g.156589472T>G	ENSP00000305596:p.Thr602Pro	0						p.T602P	NM_130899.2	NP_570969.2	1	2	3	2.006602	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	1899	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	1	1	hg19	c.1804A>C	CCDS4335.1	1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958315	0.53400	.	.	ENSG00000170613	ENST00000302938	T	0.04454	3.62	4.13	-3.73	0.04398	4.13	-3.73	0.04398	.	0.794005	0.10676	N	0.646996	T	0.05273	0.0140	L	0.53249	1.67	0.30561	N	0.764537	D	0.54964	0.969	B	0.44315	0.446	T	0.20240	-1.0281	10	0.62326	D	0.03	-3.6571	3.6906	0.08344	0.2992:0.2022:0.0:0.4986	.	602	Q8TC56	FA71B_HUMAN	P	602	ENSP00000305596:T602P	ENSP00000305596:T602P	T	-	1	0	0	FAM71B	156522050	156522050	0.090000	0.21635	0.945000	0.38365	0.514000	0.34195	-1.679000	0.01940	-0.765000	0.04645	0.533000	0.62120	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1		2	2	2	0		0	0	188		188	188	1	2.060000	-20.000000	1	0.170000	NM_130899			97	95		873	858	1		1			0	0	188	0		1	0	0	0	0	0	0	97	873
FAM71B	153745	broad.mit.edu	37	5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus (GO:0005634)				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)			TCGTTCACTCATGTAGCCTTC	0.502																																						ENST00000302938.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1222-1224)aTg>aCg		family with sequence similarity 71, member B							87.0	90.0	89.0					5																	156590053		2203	4300	6503	SO:0001583	missense	153745	0	0					g.chr5:156590053A>G		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.1223T>C	chr5.hg19:g.156590053A>G	ENSP00000305596:p.Met408Thr	0						p.M408T	NM_130899.2	NP_570969.2	1	2	3	2.006602	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	1318	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	1	1	hg19	c.1223T>C	CCDS4335.1	1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605410	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.16514	0.0397	M	0.72118	2.19	0.34314	D	0.685761	B	0.26744	0.158	B	0.17433	0.018	T	0.12915	-1.0529	10	0.09590	T	0.72	-25.7394	10.3394	0.43868	1.0:0.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	T	408	ENSP00000305596:M408T	ENSP00000305596:M408T	M	-	2	0	0	FAM71B	156522631	156522631	1.000000	0.71417	0.578000	0.28575	0.030000	0.12068	3.902000	0.56310	1.853000	0.53794	0.459000	0.35465	ATG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_130899			87	86		375	370	1		1			0	0	83	0		1	0	0	0	0	0	0	87	375
FAM71B	153745	broad.mit.edu	37	5	156592605	156592605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156592605T>C	ENST00000302938.4	-	1	670	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	192						nucleus (GO:0005634)				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)			GGGTGGTGCGTCCCCAGATAG	0.507																																						ENST00000302938.4	1.000000	0.090000	2.200000e-01	1.200000e-01	0.160000	0.231958	0.160000	0.170000																										0				68						c.(574-576)gAc>gGc		family with sequence similarity 71, member B							200.0	201.0	200.0					5																	156592605		2203	4300	6503	SO:0001583	missense	153745	0	0					g.chr5:156592605T>C		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.575A>G	chr5.hg19:g.156592605T>C	ENSP00000305596:p.Asp192Gly	0						p.D192G	NM_130899.2	NP_570969.2	1	2	3	2.006602	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	1	670	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	0	1	hg19	c.575A>G	CCDS4335.1	0	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553600	0.45487	.	.	ENSG00000170613	ENST00000302938	T	0.05925	3.37	3.8	2.65	0.31530	3.8	2.65	0.31530	.	0.259848	0.26627	N	0.023337	T	0.13457	0.0326	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	P	0.61132	0.884	T	0.03619	-1.1019	10	0.72032	D	0.01	-13.3671	5.9023	0.18974	0.0:0.1177:0.0:0.8823	.	192	Q8TC56	FA71B_HUMAN	G	192	ENSP00000305596:D192G	ENSP00000305596:D192G	D	-	2	0	0	FAM71B	156525183	156525183	0.079000	0.21365	0.012000	0.15200	0.001000	0.01503	1.881000	0.39638	0.828000	0.34709	-0.250000	0.11733	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	0	1		2	2	2	0		0	0	368		368	364	1	2.060000	-3.142734	1	0.170000	NM_130899			19	19		1355	1329	0		1			0	0	368	0		9.999880e-01	0	0	0	0	0	0	19	1355
ITK	3702	broad.mit.edu	37	5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	48	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)			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)	CCACAGAAGAAGCGCACGCTG	0.433			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999151	0.990000	1.000000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	3702	T	IL2-inducible T-cell kinase				L	L	SYK		peripheral T-cell lymphoma		0				70						c.(142-144)aAg>aCg		IL2-inducible T-cell kinase	Pazopanib(DB06589)						87.0	81.0	83.0					5																	156635904		2203	4300	6503	SO:0001583	missense	3702	0	0					g.chr5:156635904A>C	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.143A>C	chr5.hg19:g.156635904A>C	ENSP00000398655:p.Lys48Thr	0					CTB-4E7.1_ENST00000519375.1_RNA	p.K48T	NM_005546.3	NP_005537.3	1	2	3	2.006602	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	295	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	1	1	hg19	c.143A>C	CCDS4336.1	1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627245	0.66901	.	.	ENSG00000113263	ENST00000422843	D	0.93488	-3.23	5.31	5.31	0.75309	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.71206	2.165	0.51767	D	0.999931	D	0.69078	0.997	D	0.63793	0.918	D	0.95208	0.8323	10	0.72032	D	0.01	.	9.629	0.39768	0.844:0.0:0.0:0.156	.	48	Q08881	ITK_HUMAN	T	48	ENSP00000398655:K48T	ENSP00000398655:K48T	K	+	2	0	0	ITK	156568482	156568482	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.514000	0.67043	1.989000	0.58080	0.459000	0.35465	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-12.217320	1	0.170000				21	20		128	121	1		1	0		0	0	38	0		9.999974e-01	7.161561e-01	0	0	0	17	0	21	128
CYFIP2	26999	broad.mit.edu	37	5	156741989	156741989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156741989C>A	ENST00000521420.1	+	12	1256	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M					cytoplasmic FMR1 interacting protein 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)			CTCTTGGAAGCTGGTTCATCC	0.468																																						ENST00000521420.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.996154	0.990000	1.000000																										0				38						c.(1165-1167)Ctg>Atg		cytoplasmic FMR1 interacting protein 2							51.0	51.0	51.0					5																	156741989		1996	4167	6163	SO:0001583	missense	26999	0	0					g.chr5:156741989C>A	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.1165C>A	chr5.hg19:g.156741989C>A	ENSP00000430904:p.Leu389Met	0					CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M	p.L389M			1	2	3	2.006602			Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	12	1256	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)		Missense_Mutation	SNP	ENST00000521420.1	0	1	hg19	c.1165C>A		1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558899	0.86231	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.91	D;D;D;D;D;D	0.85130	0.986;0.992;0.997;0.995;0.991;0.976	T	0.67337	-0.5696	10	0.62326	D	0.03	-15.5213	19.3628	0.94448	0.0:1.0:0.0:0.0	.	279;219;389;415;415;415	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	415;219;389;415;415;340;89	ENSP00000325817:L415M;ENSP00000428009:L219M;ENSP00000430904:L389M;ENSP00000313567:L415M;ENSP00000366799:L415M;ENSP00000444645:L340M;ENSP00000403793:L89M	ENSP00000325817:L415M	L	+	1	2	2	CYFIP2	156674567	156674567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.276000	0.51646	2.579000	0.87056	0.561000	0.74099	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-8.578756	1	0.170000	NM_001037332			8	7		34	34	0		1	0		0	0	9	0		9.909316e-01	9.616511e-01	0	0	0	28	0	8	34
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000521420.1	+	13	1441	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000435847.2_Silent_p.R150R					cytoplasmic FMR1 interacting protein 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)			AGGCCATCAGGAACACCATCT	0.597																																						ENST00000521420.1	1.000000	0.430000	7.900000e-01	5.200000e-01	0.630000	0.664539	0.630000	0.610000																										0				38						c.(1348-1350)agG>agA		cytoplasmic FMR1 interacting protein 2							131.0	133.0	132.0					5																	156746841		2203	4300	6503	SO:0001819	synonymous_variant	26999	0	0					g.chr5:156746841G>A	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.1350G>A	chr5.hg19:g.156746841G>A		0					CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R	p.R450R			1	2	3	2.006602			Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	13	1441	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)		Silent	SNP	ENST00000521420.1	1	1	hg19	c.1350G>A		0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-5.718787	1	0.170000	NM_001037332			30	29		539	521	0		1	1		0	0	108	0		1	6.864543e-01	0	5	0	39	0	30	539
CYFIP2	26999	broad.mit.edu	37	5	156746871	156746871	+	Silent	SNP	C	C	T	rs563909737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000521420.1	+	13	1471	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000435847.2_Silent_p.F160F					cytoplasmic FMR1 interacting protein 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)			TGCAGGACTTCGCCCAGGTGA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		23881	0.001		0.0	False		,,,				2504	0.0					ENST00000521420.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1378-1380)ttC>ttT		cytoplasmic FMR1 interacting protein 2							144.0	148.0	147.0					5																	156746871		2203	4300	6503	SO:0001819	synonymous_variant	26999	1	121406	35				g.chr5:156746871C>T	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.1380C>T	chr5.hg19:g.156746871C>T		0					CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F	p.F460F			1	2	3	2.006602			Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	13	1471	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)		Silent	SNP	ENST00000521420.1	1	1	hg19	c.1380C>T		1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	0		2	2	2	0		0	0	157		157	152	1	2.060000	-20.000000	1	0.170000	NM_001037332			123	122		614	601	0		1	0		0	0	157	0		1	9.968130e-01	0	0	0	45	0	123	614
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*					cytoplasmic FMR1 interacting protein 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)			ACAGGCAATTCGAAAGACCAT	0.532																																						ENST00000521420.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1462-1464)Cga>Tga		cytoplasmic FMR1 interacting protein 2							59.0	60.0	60.0					5																	156747679		1962	4140	6102	SO:0001587	stop_gained	26999	0	0					g.chr5:156747679C>T	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.1462C>T	chr5.hg19:g.156747679C>T	ENSP00000430904:p.Arg488*	0					CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*	p.R488*			1	2	3	2.006602			Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	14	1553	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)		Nonsense_Mutation	SNP	ENST00000521420.1	0	1	hg19	c.1462C>T		1	.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	2	CYFIP2	156680257	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.487548	1	0.170000	NM_001037332			37	36		163	159	1		1	0		0	0	48	0		1	9.971879e-01	0	1	0	42	0	37	163
NIPAL4	348938	broad.mit.edu	37	5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A	rs201443898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	148						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.0					ENST00000311946.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999860	0.990000	1.000000																										0				22						c.(442-444)gCc>gAc		NIPA-like domain containing 4		C	ASP/ALA,ASP/ALA	6,3900		0,6,1947	20.0	24.0	23.0		443,443	2.9	0.8	5		23	0,8304		0,0,4152	yes	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	126,126	0,6,6099	AA,AC,CC		0.0,0.1536,0.0491	benign,benign	148/467,148/448	156890321	6,12204	1953	4152	6105	SO:0001583	missense	348938	10	120384	37				g.chr5:156890321C>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.443C>A	chr5.hg19:g.156890321C>A	ENSP00000311687:p.Ala148Asp	0					NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|ADAM19_ENST00000430702.2_Intron	p.A148D	NM_001099287.1	NP_001092757.1	1	2	3	2.006602	Q0D2K0	NIPA4_HUMAN		2	559	+			A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	1	1	hg19	c.443C>A	CCDS47328.1	1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255790	0.05829	0.001536	0.0	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90563	-0.52;-2.69	4.92	2.87	0.33458	4.92	2.87	0.33458	.	0.690165	0.15240	N	0.272921	D	0.83248	0.5213	L	0.28694	0.88	0.22728	N	0.998805	B;B	0.16166	0.013;0.016	B;B	0.12156	0.007;0.007	T	0.68443	-0.5407	10	0.22109	T	0.4	-6.1498	10.8222	0.46612	0.1923:0.7013:0.1064:0.0	.	148;148	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	148	ENSP00000406456:A148D;ENSP00000311687:A148D	ENSP00000311687:A148D	A	+	2	0	0	NIPAL4	156822899	156822899	0.999000	0.42202	0.758000	0.31321	0.164000	0.22412	0.741000	0.26202	1.032000	0.39892	0.561000	0.74099	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	1	0	1		2	2	2	0		0	0	39		39	36	1	2.060000	-20.000000	1	0.170000	NM_001099287			33	32		205	203	1		1	0		0	0	39	0		1	2.057400e-02	0	0	0	2	0	33	205
ADAM19	8728	broad.mit.edu	37	5	156908832	156908832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	ENST00000517905.1	-	22	2714	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000257527.4_Missense_Mutation_p.Q890H			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	890					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGGGACTGCTGAGGGCCAG	0.687																																						ENST00000517905.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999868	0.990000	1.000000																										0				53						c.(2668-2670)caG>caT		ADAM metallopeptidase domain 19							13.0	14.0	14.0					5																	156908832		2196	4295	6491	SO:0001583	missense	8728	0	0					g.chr5:156908832C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2670G>T	chr5.hg19:g.156908832C>A	ENSP00000428654:p.Gln890His	0					ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000257527.4_Missense_Mutation_p.Q890H	p.Q890H			1	2	3	2.006602	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	22	2714	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	0	1	hg19	c.2670G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.939|8.939	0.965465|0.965465	0.18583|0.18583	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01538|.	4.8;4.82;4.79|.	5.51|5.51	0.583|0.583	0.17417|0.17417	5.51|5.51	0.583|0.583	0.17417|0.17417	.|.	0.734758|.	0.12449|.	N|.	0.467961|.	T|T	0.23171|0.23171	0.0560|0.0560	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28512|.	0.115;0.214|.	B;B|.	0.35688|.	0.208;0.135|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.38643|.	T|.	0.18|.	.|.	3.4723|3.4723	0.07571|0.07571	0.2793:0.3996:0.0:0.321|0.2793:0.3996:0.0:0.321	.|.	890;890|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	H|I	890;892;890|461	ENSP00000257527:Q890H;ENSP00000377588:Q892H;ENSP00000428654:Q890H|.	ENSP00000257527:Q890H|.	Q|S	-|-	3|2	2|0	2|0	ADAM19|ADAM19	156841410|156841410	156841410|156841410	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.150000|-0.150000	0.10189|0.10189	-0.189000|-0.189000	0.10482|0.10482	0.561000|0.561000	0.74099|0.74099	CAG|AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_033274			13	13		40	38	0		1	0		0	0	9	0		9.996871e-01	9.881779e-01	0	0	0	27	0	13	40
ADAM19	8728	broad.mit.edu	37	5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000517905.1	-	7	693	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000257527.4_Missense_Mutation_p.V217M			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	217	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443																																						ENST00000517905.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(649-651)Gtg>Atg		ADAM metallopeptidase domain 19							179.0	177.0	178.0					5																	156945848		2203	4300	6503	SO:0001583	missense	8728	1	121412	35				g.chr5:156945848C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.649G>A	chr5.hg19:g.156945848C>T	ENSP00000428654:p.Val217Met	0					ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000257527.4_Missense_Mutation_p.V217M	p.V217M			1	2	3	2.006602	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	7	693	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	1	1	hg19	c.649G>A		1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478870	0.84747	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.74315	-0.83;-0.83;-0.83	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	D	0.92315	0.7562	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95271	0.8377	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	217	Q9H013-2	.	M	217;219;217	ENSP00000257527:V217M;ENSP00000377588:V219M;ENSP00000428654:V217M	ENSP00000257527:V217M	V	-	1	0	0	ADAM19	156878426	156878426	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	1	0	1		2	2	2	0		0	0	246		246	240	1	2.060000	-20.000000	1	0.170000	NM_033274			201	195		827	814	1		1	0		0	0	246	0		1	8.720602e-01	0	1	0	16	0	201	827
SOX30	11063	broad.mit.edu	37	5	157065339	157065339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000519442.1_Silent_p.Q288Q|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	593	Pro-rich.				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)			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)			GGGGAGGGGGCTGGTAGACAT	0.557																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				23						c.(1777-1779)caG>caA		SRY (sex determining region Y)-box 30							71.0	70.0	70.0					5																	157065339		2203	4300	6503	SO:0001819	synonymous_variant	11063	0	0					g.chr5:157065339C>T	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.1779G>A	chr5.hg19:g.157065339C>T		0					SOX30_ENST00000519442.1_Silent_p.Q288Q|SOX30_ENST00000311371.5_Intron	p.Q593Q	NM_178424.1	NP_848511.1	1	2	3	2.006602	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	4	2120	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	1	1	hg19	c.1779G>A	CCDS4339.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_007017			36	35		219	208	1		1			0	0	46	0		1	0	0	0	0	0	0	36	219
SOX30	11063	broad.mit.edu	37	5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H|SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	447					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)			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)			ACCACAGAGTACGTAGGTGAG	0.368																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1339-1341)Tac>Cac		SRY (sex determining region Y)-box 30							162.0	153.0	156.0					5																	157073693		2203	4300	6503	SO:0001583	missense	11063	0	0					g.chr5:157073693A>G	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.1339T>C	chr5.hg19:g.157073693A>G	ENSP00000265007:p.Tyr447His	0					SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H|SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H	p.Y447H	NM_178424.1	NP_848511.1	1	2	3	2.006602	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	3	1680	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	1	1	hg19	c.1339T>C	CCDS4339.1	1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777591	0.70107	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98249	-4.82;-4.33;-4.61	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.107024	0.42172	D	0.000754	D	0.97411	0.9153	N	0.24115	0.695	0.33154	D	0.546052	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63597	0.916;0.904;0.804	D	0.99901	1.1161	10	0.54805	T	0.06	.	14.0019	0.64437	1.0:0.0:0.0:0.0	.	142;447;447	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	H	447;447;142	ENSP00000309343:Y447H;ENSP00000265007:Y447H;ENSP00000427984:Y142H	ENSP00000265007:Y447H	Y	-	1	0	0	SOX30	157006271	157006271	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.993000	0.70616	2.111000	0.64477	0.528000	0.53228	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_007017			107	104		455	452	1		1			0	0	120	0		1	0	0	0	0	0	0	107	455
THG1L	54974	broad.mit.edu	37	5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	176					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCAGCTGGCGACAAGCAGA	0.468																																						ENST00000231198.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(526-528)Cga>Tga		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							90.0	79.0	83.0					5																	157161741		2203	4300	6503	SO:0001587	stop_gained	54974	1	121412	32				g.chr5:157161741C>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.526C>T	chr5.hg19:g.157161741C>T	ENSP00000231198:p.Arg176*	0					AC026407.1_ENST00000599823.1_5'Flank	p.R176*	NM_017872.3	NP_060342.2	1	2	3	2.006602	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	3	770	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Nonsense_Mutation	SNP	ENST00000231198.7	0	1	hg19	c.526C>T	CCDS4341.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.280306	0.98182	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.95	4.13	0.48395	5.95	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.3795	14.6076	0.68493	0.5054:0.4946:0.0:0.0	.	.	.	.	X	176;51	.	ENSP00000231198:R176X	R	+	1	2	2	THG1L	157094319	157094319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	0.799000	0.34018	0.650000	0.86243	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_017872			52	51		244	238	1		1	0		0	0	49	0		1	9.985611e-01	0	1	0	48	0	52	244
LSM11	134353	broad.mit.edu	37	5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	176	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)			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)			ATCCGCACTTTCAAGGGACTT	0.512																																						ENST00000286307.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(526-528)tTc>tGc		LSM11, U7 small nuclear RNA associated							139.0	132.0	134.0					5																	157178476		2203	4300	6503	SO:0001583	missense	134353	0	0					g.chr5:157178476T>G	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.527T>G	chr5.hg19:g.157178476T>G	ENSP00000286307:p.Phe176Cys	0						p.F176C	NM_173491.2	NP_775762.1	1	2	3	2.006602	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	583	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	1	1	hg19	c.527T>G	CCDS4342.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796430	0.90453	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.141008	0.64402	D	0.000006	T	0.61464	0.2349	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63102	-0.6712	10	0.72032	D	0.01	-16.7964	16.5764	0.84681	0.0:0.0:0.0:1.0	.	176	P83369	LSM11_HUMAN	C	176	ENSP00000286307:F176C	ENSP00000286307:F176C	F	+	2	0	0	LSM11	157111054	157111054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-20.000000	1	0.170000	NM_173491			107	102		470	462	1		1	1		0	0	109	0		1	9.817863e-01	0	8	0	22	0	107	470
EBF1	1879	broad.mit.edu	37	5	158223401	158223401	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000380654.4_Silent_p.F256F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	287	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453			T	HMGA2	lipoma																																	ENST00000313708.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q34	5q34	1879	T	early B-cell factor 1				M	M	HMGA2		lipoma	HMGA2/EBF1(2)	0				42						c.(859-861)ttC>ttT		early B-cell factor 1							155.0	126.0	136.0					5																	158223401		2203	4300	6503	SO:0001819	synonymous_variant	1879	0	0					g.chr5:158223401G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.861C>T	chr5.hg19:g.158223401G>A		0					EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000518836.1_5'UTR	p.F287F	NM_024007.3	NP_076870.1	1	2	3	2.006602	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	9	1143	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Q8IW11	Silent	SNP	ENST00000313708.6	1	1	hg19	c.861C>T	CCDS4343.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_024007			81	78		308	301	1		1	0		0	0	72	0		1	5.901085e-01	0	0	0	9	0	81	308
EBF1	1879	broad.mit.edu	37	5	158526367	158526367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158526367G>A	ENST00000313708.6	-	1	402	c.120C>T	c.(118-120)aaC>aaT	p.N40N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000380654.4_Silent_p.N40N|RP11-175K6.1_ENST00000499583.1_lincRNA	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	40					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGCCGCCGTGTTGGCGTCCA	0.731			T	HMGA2	lipoma																																	ENST00000313708.6	1.000000	0.170000	4.000000e-01	2.200000e-01	0.290000	0.350511	0.290000	0.290000				Dom	yes			Dom	yes		5	5q34	5q34	1879	T	early B-cell factor 1				M	M	HMGA2		lipoma	HMGA2/EBF1(2)	0				42						c.(118-120)aaC>aaT		early B-cell factor 1							47.0	56.0	53.0					5																	158526367		2201	4296	6497	SO:0001819	synonymous_variant	1879	0	0					g.chr5:158526367G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.120C>T	chr5.hg19:g.158526367G>A		0					EBF1_ENST00000380654.4_Silent_p.N40N|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000518836.1_5'UTR	p.N40N	NM_024007.3	NP_076870.1	1	2	3	2.006602	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	1	402	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Q8IW11	Silent	SNP	ENST00000313708.6	0	1	hg19	c.120C>T	CCDS4343.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	0	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-12.858330	1	0.170000	NM_024007			16	16		650	640	0		1	0		0	0	87	0		9.999244e-01	3.954770e-03	0	0	0	4	0	16	650
UBLCP1	134510	broad.mit.edu	37	5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383																																						ENST00000296786.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(109-111)Gga>Tga		ubiquitin-like domain containing CTD phosphatase 1							102.0	97.0	98.0					5																	158696032		2203	4300	6503	SO:0001587	stop_gained	134510	0	0					g.chr5:158696032G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.109G>T	chr5.hg19:g.158696032G>T	ENSP00000296786:p.Gly37*	0						p.G37*	NM_145049.3	NP_659486.2	1	2	3	2.006602	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	2	435	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	D3DQJ7|Q96DK5	Nonsense_Mutation	SNP	ENST00000296786.6	0	1	hg19	c.109G>T	CCDS4345.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.445000	0.98815	.	.	ENSG00000164332	ENST00000296786	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-13.2913	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000296786:G37X	G	+	1	0	0	UBLCP1	158628610	158628610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.744291	1	0.170000	NM_145049			85	83		366	361	1		1	1		0	0	77	0		1	9.999998e-01	0	17	0	81	0	85	366
UBLCP1	134510	broad.mit.edu	37	5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	315						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338																																						ENST00000296786.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999608	0.990000	1.000000																										0				9						c.(943-945)aaG>aaT		ubiquitin-like domain containing CTD phosphatase 1							139.0	142.0	141.0					5																	158711927		2203	4298	6501	SO:0001583	missense	134510	0	0					g.chr5:158711927G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.945G>T	chr5.hg19:g.158711927G>T	ENSP00000296786:p.Lys315Asn	0						p.K315N	NM_145049.3	NP_659486.2	1	2	3	2.006602	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	1271	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	1	1	hg19	c.945G>T	CCDS4345.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046228	0.36085	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	5.89	5.02	0.67125	.	0.150396	0.64402	N	0.000012	T	0.45617	0.1351	L	0.31752	0.955	0.51233	D	0.999913	B	0.20780	0.048	B	0.24006	0.05	T	0.35724	-0.9777	9	0.36615	T	0.2	-15.6052	11.6009	0.51001	0.1425:0.0:0.8575:0.0	.	315	Q8WVY7	UBCP1_HUMAN	N	315	.	ENSP00000296786:K315N	K	+	3	2	2	UBLCP1	158644505	158644505	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.544000	0.53640	1.493000	0.48517	0.643000	0.83706	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	1	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_145049			38	37		265	264	1		1	1		0	0	73	0		1	9.999962e-01	0	32	0	103	0	38	265
FBXL7	23194	broad.mit.edu	37	5	15936593	15936593	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000510662.1_Silent_p.R211R|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Silent_p.R246R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					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)			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						GCTTGACCCGGGAGGCCTCCA	0.577																																						ENST00000504595.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999664	0.990000	1.000000																										0				60						c.(772-774)cgG>cgT		F-box and leucine-rich repeat protein 7							55.0	55.0	55.0					5																	15936593		2112	4222	6334	SO:0001819	synonymous_variant	23194	0	0					g.chr5:15936593G>T	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.774G>T	chr5.hg19:g.15936593G>T		0					FBXL7_ENST00000329673.7_Silent_p.R246R|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.R211R	p.R258R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	0	0	0	1.967783	Q9UJT9	FBXL7_HUMAN		4	1255	+			B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	1	1	hg19	c.774G>T	CCDS54833.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_012304			29	28		174	169	1		1	0		0	0	44	0		1	8.203002e-01	0	0	0	21	0	29	174
FBXL7	23194	broad.mit.edu	37	5	15936764	15936764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000510662.1_Silent_p.G268G|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Silent_p.G303G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	315					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)			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						CCGACGAAGGCCTGCGCTACC	0.667																																						ENST00000504595.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0				60						c.(943-945)ggC>ggT		F-box and leucine-rich repeat protein 7							35.0	39.0	38.0					5																	15936764		2187	4284	6471	SO:0001819	synonymous_variant	23194	1	121218	19				g.chr5:15936764C>T	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.945C>T	chr5.hg19:g.15936764C>T		0					FBXL7_ENST00000329673.7_Silent_p.G303G|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.G268G	p.G315G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	0	0	0	1.967783	Q9UJT9	FBXL7_HUMAN		4	1426	+			B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	1	1	hg19	c.945C>T	CCDS54833.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_012304			27	25		140	137	1		1	0		0	0	32	0		1	7.847414e-01	0	0	0	17	0	27	140
IL12B	3593	broad.mit.edu	37	5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	19					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)			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)			GCCACGAGGGGAGATGCCAGA	0.507																																						ENST00000231228.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				11						c.(55-57)Ccc>Tcc		interleukin 12B							90.0	94.0	93.0					5																	158753736		2203	4300	6503	SO:0001583	missense	3593	0	0					g.chr5:158753736G>A	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.55C>T	chr5.hg19:g.158753736G>A	ENSP00000231228:p.Pro19Ser	0						p.P19S	NM_002187.2	NP_002178.2	1	2	3	2.006602	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	2	510	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)		Missense_Mutation	SNP	ENST00000231228.2	1	1	hg19	c.55C>T	CCDS4346.1	1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153871	0.57259	.	.	ENSG00000113302	ENST00000231228	T	0.19806	2.12	5.64	5.64	0.86602	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.304673	0.35903	N	0.002906	T	0.20820	0.0501	L	0.54323	1.7	0.36907	D	0.890685	B	0.22983	0.078	B	0.22880	0.042	T	0.09271	-1.0682	10	0.08837	T	0.75	-2.4995	15.5804	0.76432	0.0:0.0:1.0:0.0	.	19	P29460	IL12B_HUMAN	S	19	ENSP00000231228:P19S	ENSP00000231228:P19S	P	-	1	0	0	IL12B	158686314	158686314	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.293000	0.51779	2.832000	0.97577	0.655000	0.94253	CCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-19.989110	1	0.170000	NM_002187			46	45		272	267	1		1			0	0	91	0		1	0	0	0	0	0	0	46	272
TTC1	7265	broad.mit.edu	37	5	159437762	159437762	+	Missense_Mutation	SNP	C	C	T	rs41275307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159437762C>T	ENST00000231238.5	+	2	337	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TTC1_ENST00000522793.1_Missense_Mutation_p.A76V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	76					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			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)		GAGCCAGGAGCGGACAAGGTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20866	0.0		0.0	False		,,,				2504	0.001					ENST00000231238.5	1.000000	0.170000	7.200000e-01	2.800000e-01	0.450000	0.500569	0.450000	0.400000																										0				12						c.(226-228)gCg>gTg		tetratricopeptide repeat domain 1		C	VAL/ALA	0,4406		0,0,2203	59.0	57.0	58.0		227	-5.9	0.0	5	dbSNP_127	58	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TTC1	NM_003314.1	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	76/293	159437762	4,13002	2203	4300	6503	SO:0001583	missense	7265	32	121410	44				g.chr5:159437762C>T	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.227C>T	chr5.hg19:g.159437762C>T	ENSP00000231238:p.Ala76Val	0					TTC1_ENST00000522793.1_Missense_Mutation_p.A76V|Y_RNA_ENST00000362528.1_RNA	p.A76V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	1	2	3	2.006602	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	2	337	+	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)	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	0	1	hg19	c.227C>T	CCDS4348.1	0	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129412	0.06753	0.0	4.65E-4	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18338	2.22;2.22	5.09	-5.92	0.02261	5.09	-5.92	0.02261	.	1.368040	0.04409	N	0.365678	T	0.07863	0.0197	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.30078	T	0.28	-10.0995	1.5147	0.02503	0.2707:0.3727:0.1379:0.2188	rs41275307	76	Q99614	TTC1_HUMAN	V	76	ENSP00000231238:A76V;ENSP00000429225:A76V	ENSP00000231238:A76V	A	+	2	0	0	TTC1	159370340	159370340	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.420000	0.07062	-1.027000	0.03325	-0.378000	0.06908	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	0	0	0		2	2	2	0		0	0	37		37	34	1	2.060000	-7.392135	1	0.170000	NM_003314			5	5		142	139	0		1	1		0	0	37	0		9.352136e-01	9.981834e-01	0	40	0	366	0	5	142
PWWP2A	114825	broad.mit.edu	37	5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000307063.7	-	1	428	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K|PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	132	Pro-rich.									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)			AGCGGCGGCTCCTCGCGCTCC	0.766																																						ENST00000307063.7	1.000000	0.570000	1	7.700000e-01	0.990000	0.918973	0.990000	1.000000																										0				5						c.(394-396)Gag>Aag		PWWP domain containing 2A							9.0	12.0	11.0					5																	159546002		1790	3937	5727	SO:0001583	missense	114825	0	0					g.chr5:159546002C>T		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.394G>A	chr5.hg19:g.159546002C>T	ENSP00000305151:p.Glu132Lys	0					PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K|PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K	p.E132K	NM_001130864.1	NP_001124336.1	1	2	3	2.006602	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	1	428	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	0	1	hg19	c.394G>A	CCDS47332.1	1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480504	0.44044	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.59083	1.27;1.27;0.29	3.19	2.2	0.27929	3.19	2.2	0.27929	.	0.183149	0.33057	N	0.005322	T	0.37758	0.1015	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.22146	0.039;0.065;0.065	B;B;B	0.19946	0.012;0.027;0.027	T	0.15464	-1.0436	10	0.21014	T	0.42	-3.0982	9.7697	0.40582	0.0:0.7876:0.2124:0.0	.	132;132;132	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	K	132	ENSP00000390462:E132K;ENSP00000428143:E132K;ENSP00000305151:E132K	ENSP00000305151:E132K	E	-	1	0	0	PWWP2A	159478580	159478580	0.003000	0.15002	0.996000	0.52242	0.832000	0.47134	0.110000	0.15437	1.782000	0.52362	0.556000	0.70494	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.766	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1	1	0	0		2	2	2	0		0	0	14		14	7	1	2.060000	-19.999570	1	0.170000				12	12		129	120	0		1	0		0	0	14	0		9.988831e-01	0	0	0	0	1	0	12	129
PWWP2A	114825	broad.mit.edu	37	5	159546030	159546030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000307063.7	-	1	400	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000456329.3_Silent_p.E122E|PWWP2A_ENST00000523662.1_Silent_p.E122E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	122	Pro-rich.									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)			CCGGGGGCTGCTCCGGCGGCG	0.746																																						ENST00000307063.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999941	0.990000	1.000000																										0				5						c.(364-366)gaG>gaA		PWWP domain containing 2A							11.0	13.0	13.0					5																	159546030		1804	3926	5730	SO:0001819	synonymous_variant	114825	0	0					g.chr5:159546030C>T		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.366G>A	chr5.hg19:g.159546030C>T		0					PWWP2A_ENST00000523662.1_Silent_p.E122E|PWWP2A_ENST00000456329.3_Silent_p.E122E	p.E122E	NM_001130864.1	NP_001124336.1	1	2	3	2.006602	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	1	400	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	1	1	hg19	c.366G>A	CCDS47332.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1	1	0	0		2	2	2	0		0	0	19		19	16	1	2.060000	-20.000000	1	0.170000				28	25		152	148	0		1	0		0	0	19	0		1	0	0	0	0	1	0	28	152
CCNJL	79616	broad.mit.edu	37	5	159707577	159707577	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	ENST00000393977.3	-	3	520	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTGGAGGTGGTGACG	0.627																																						ENST00000393977.3	1.000000	0.270000	5.700000e-01	3.500000e-01	0.440000	0.485611	0.440000	0.420000																										0				17						c.(235-237)Tcc>Ccc		cyclin J-like							93.0	95.0	94.0					5																	159707577		2168	4245	6413	SO:0001583	missense	79616	0	0					g.chr5:159707577A>G	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.235T>C	chr5.hg19:g.159707577A>G	ENSP00000377547:p.Ser79Pro	0					CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P	p.S79P	NM_024565.5	NP_078841.3	1	2	3	2.006602	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	3	520	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	1	1	hg19	c.235T>C	CCDS4350.2	0	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459198	0.63401	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748;ENST00000505287	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.04	2.54	0.30619	5.04	2.54	0.30619	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.42548	D	0.000699	T	0.28134	0.0694	L	0.55481	1.735	0.26272	N	0.978407	P;P;D	0.65815	0.899;0.943;0.995	P;P;P	0.60415	0.664;0.664;0.874	T	0.15896	-1.0421	10	0.66056	D	0.02	-19.0172	0.9414	0.01356	0.4356:0.2439:0.1795:0.141	.	79;79;79	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	P	79;79;79;78;114;124	ENSP00000377547:S79P;ENSP00000257536:S79P;ENSP00000427960:S79P;ENSP00000446367:S78P;ENSP00000428836:S114P;ENSP00000444778:S124P	ENSP00000257536:S79P	S	-	1	0	0	CCNJL	159640155	159640155	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.353000	0.34045	0.891000	0.36235	0.454000	0.30748	TCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	0	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-3.942391	1	0.170000	NM_024565			21	20		558	544	0		1	0		0	0	92	0		9.999968e-01	4.351267e-03	0	0	0	3	0	21	558
CCNJL	79616	broad.mit.edu	37	5	159738895	159738895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000377503.2_Intron	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	12						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652																																						ENST00000393977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(34-36)gcC>gcT		cyclin J-like							74.0	85.0	81.0					5																	159738895		2152	4246	6398	SO:0001819	synonymous_variant	79616	0	0					g.chr5:159738895G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.36C>T	chr5.hg19:g.159738895G>A		0					CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000541762.1_Silent_p.A11A	p.A12A	NM_024565.5	NP_078841.3	1	2	3	2.006602	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	2	321	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	1	1	hg19	c.36C>T	CCDS4350.2	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_024565			74	74		399	394	1		1	0		0	0	83	0		1	2.521008e-02	0	0	0	2	0	74	399
ZBED8	63920	broad.mit.edu	37	5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A	rs191961092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0					ENST00000408953.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(790-792)Cct>Tct									142.0	136.0	138.0					5																	159821708		2203	4300	6503	SO:0001583	missense	0	1	121412	36				g.chr5:159821708G>A																												ENST00000408953.3:c.790C>T	chr5.hg19:g.159821708G>A	ENSP00000386184:p.Pro264Ser	0					C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	p.P264S	NM_022090.3	NP_071373.2	1	2	3	2.006602				2	1297	-				Missense_Mutation	SNP	ENST00000408953.3	1	1	hg19	c.790C>T	CCDS34283.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.56	2.274400	0.40194	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.19394	2.15;2.15	2.84	2.84	0.33178	2.84	2.84	0.33178	.	.	.	.	.	T	0.35278	0.0926	L	0.47190	1.495	0.31834	N	0.62442	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	9	0.44086	T	0.13	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	264	Q8IZ13	CE054_HUMAN	S	264	ENSP00000386184:P264S;ENSP00000428831:P264S	ENSP00000386184:P264S	P	-	1	0	0	C5orf54	159754286	159754286	0.987000	0.35691	0.974000	0.42286	0.746000	0.42486	3.072000	0.50049	1.916000	0.55485	0.655000	0.94253	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000				126	126		534	527	1		1	1		0	0	106	0		1	8.619489e-01	0	3	0	14	0	126	534
SLU7	10569	broad.mit.edu	37	5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	334					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388																																						ENST00000297151.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999699	0.990000	1.000000																										0				20						c.(1000-1002)gCc>gTc		SLU7 splicing factor homolog (S. cerevisiae)							125.0	117.0	119.0					5																	159834607		2203	4300	6503	SO:0001583	missense	10569	0	0					g.chr5:159834607G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1001C>T	chr5.hg19:g.159834607G>A	ENSP00000297151:p.Ala334Val	0						p.A334V	NM_006425.4	NP_006416.3	1	2	3	2.006602	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	1388	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	1	1	hg19	c.1001C>T	CCDS4352.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646700	0.87958	.	.	ENSG00000164609	ENST00000297151	T	0.49432	0.78	6.17	3.44	0.39384	6.17	3.44	0.39384	Pre-mRNA splicing Prp18-interacting factor (1);	0.329212	0.35739	N	0.003007	T	0.67059	0.2853	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67825	-0.5570	10	0.87932	D	0	-29.9888	9.9057	0.41375	0.1249:0.1156:0.7594:0.0	.	334	O95391	SLU7_HUMAN	V	334	ENSP00000297151:A334V	ENSP00000297151:A334V	A	-	2	0	0	SLU7	159767185	159767185	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.378000	0.97191	0.480000	0.27534	0.655000	0.94253	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006425			25	24		148	143	1		1	1		0	0	48	0		9.999999e-01	1	0	59	0	154	0	25	148
SLU7	10569	broad.mit.edu	37	5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	268					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368																																						ENST00000297151.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999918	0.990000	1.000000																										0				20						c.(802-804)cGa>cAa		SLU7 splicing factor homolog (S. cerevisiae)							81.0	83.0	82.0					5																	159835352		2203	4300	6503	SO:0001583	missense	10569	0	0					g.chr5:159835352C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.803G>A	chr5.hg19:g.159835352C>T	ENSP00000297151:p.Arg268Gln	0						p.R268Q	NM_006425.4	NP_006416.3	1	2	3	2.006602	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	8	1190	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	1	1	hg19	c.803G>A	CCDS4352.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.675574	0.96764	.	.	ENSG00000164609	ENST00000297151	T	0.72282	-0.64	6.16	6.16	0.99307	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88867	0.3330	10	0.87932	D	0	-22.3357	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268	O95391	SLU7_HUMAN	Q	268	ENSP00000297151:R268Q	ENSP00000297151:R268Q	R	-	2	0	0	SLU7	159767930	159767930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.018431	1	0.170000	NM_006425			41	39		265	261	1		1	1		0	0	53	0		1	1	0	37	0	150	0	41	265
ATP10B	23120	broad.mit.edu	37	5	160047706	160047706	+	Silent	SNP	G	G	A	rs373898412		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	688					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602																																						ENST00000327245.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(2062-2064)ggC>ggT		ATPase, class V, type 10B		G		0,4352		0,0,2176	50.0	52.0	51.0		2064	-10.7	0.0	5		51	1,8549		0,1,4274	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6450	AA,AG,GG		0.0117,0.0,0.0078		688/1462	160047706	1,12901	2176	4275	6451	SO:0001819	synonymous_variant	23120	2	121250	34				g.chr5:160047706G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2064C>T	chr5.hg19:g.160047706G>A		0					CTC-348L5.1_ENST00000523598.1_RNA	p.G688G	NM_025153.2	NP_079429.2	1	2	3	2.006602	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	15	2910	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Q9H725	Silent	SNP	ENST00000327245.5	1	1	hg19	c.2064C>T	CCDS43394.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	0	0	1		15	3	2	1		1	1	68		68	68	1	2.060000	-3.546875	1	0.170000	NM_025153			58	57		242	235	1		1	1		1	0	68	0		1	8.213188e-01	0	8	0	14	0	58	242
ATP10B	23120	broad.mit.edu	37	5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	368					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488																																						ENST00000327245.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1102-1104)ttC>ttA		ATPase, class V, type 10B							69.0	69.0	69.0					5																	160063213		1900	4119	6019	SO:0001583	missense	23120	0	0					g.chr5:160063213G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1104C>A	chr5.hg19:g.160063213G>T	ENSP00000313600:p.Phe368Leu	0					CTC-348L5.1_ENST00000523598.1_RNA	p.F368L	NM_025153.2	NP_079429.2	1	2	3	2.006602	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	1950	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	1	1	hg19	c.1104C>A	CCDS43394.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372293	0.82573	.	.	ENSG00000118322	ENST00000327245	D	0.87966	-2.32	5.18	0.379	0.16213	5.18	0.379	0.16213	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.69185	2.1	0.58432	D	0.999991	D;P;D;D	0.89917	1.0;0.914;1.0;0.999	D;P;D;D	0.97110	1.0;0.868;0.999;0.996	D	0.87226	0.2257	9	.	.	.	.	8.8292	0.35074	0.485:0.0:0.515:0.0	.	412;368;340;368	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	L	368	ENSP00000313600:F368L	.	F	-	3	2	2	ATP10B	159995791	159995791	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.951000	0.40333	0.208000	0.20626	0.555000	0.69702	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_025153			54	54		234	230	1		1	1		0	0	70	0		1	8.284806e-01	0	4	0	12	0	54	234
GABRB2	2561	broad.mit.edu	37	5	160721349	160721349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000393959.1	-	10	1277	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000520240.1_Silent_p.D388D|GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000517901.1_Silent_p.D325D			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	426					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)			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)	TGCTTCTGGGGTCTCCAAGTC	0.507																																						ENST00000393959.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1276-1278)gaC>gaT		gamma-aminobutyric acid (GABA) A receptor, beta 2	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)						113.0	105.0	108.0					5																	160721349		2203	4300	6503	SO:0001819	synonymous_variant	2561	0	0					g.chr5:160721349G>A		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.1278C>T	chr5.hg19:g.160721349G>A		0					GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000520240.1_Silent_p.D388D	p.D426D			1	2	3	2.006602	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	10	1277	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	1	1	hg19	c.1278C>T	CCDS4355.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000				98	97		368	365	1		1			0	0	92	0		1	0	0	0	0	0	0	98	368
MARCH11	441061	broad.mit.edu	37	5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MARCH11_ENST00000505509.1_5'UTR|RP11-19O2.2_ENST00000509037.1_RNA	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	187					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418																																						ENST00000332432.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(559-561)cGa>cAa		membrane-associated ring finger (C3HC4) 11							87.0	84.0	85.0					5																	16177968		1901	4127	6028	SO:0001583	missense	441061	0	0					g.chr5:16177968C>T	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.560G>A	chr5.hg19:g.16177968C>T	ENSP00000333181:p.Arg187Gln	0					RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	p.R187Q	NM_001102562.1	NP_001096032.1	0	0	0	1.967783	A6NNE9	MARHB_HUMAN		2	759	-			A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	1	1	hg19	c.560G>A	CCDS47192.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.309146	0.95629	.	.	ENSG00000183654	ENST00000332432	T	0.55234	0.53	5.68	5.68	0.88126	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.56097	U	0.000033	T	0.70413	0.3221	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71196	-0.4664	10	0.72032	D	0.01	-5.0254	19.7964	0.96487	0.0:1.0:0.0:0.0	.	187	A6NNE9	MARHB_HUMAN	Q	187	ENSP00000333181:R187Q	ENSP00000333181:R187Q	R	-	2	0	0	MARCH11	16230968	16230968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.294618	1	0.170000	NM_001102562			44	44		210	208	1		1	0		0	0	64	0		1	0	0	0	0	1	0	44	210
GABRB2	2561	broad.mit.edu	37	5	160757956	160757956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000393959.1	-	8	1010	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000520240.1_Silent_p.R337R|GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000517901.1_Silent_p.R274R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					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)			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)	CTTTCTTTTGGCGTTGGGGCC	0.502																																						ENST00000393959.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1009-1011)cgC>cgT		gamma-aminobutyric acid (GABA) A receptor, beta 2	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)						94.0	98.0	97.0					5																	160757956		2203	4300	6503	SO:0001819	synonymous_variant	2561	0	0					g.chr5:160757956G>A		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.1011C>T	chr5.hg19:g.160757956G>A		0					GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000520240.1_Silent_p.R337R	p.R337R			1	2	3	2.006602	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	8	1010	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	1	1	hg19	c.1011C>T	CCDS4355.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000				119	118		539	535	1		1			0	0	117	0		1	0	0	0	0	0	0	119	539
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000274203.9_Silent_p.I1369I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	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.I2012I(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						CATCGACCACGATCTTATACG	0.478																																						ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - coding silent(1)	p.I2012I(1)	large_intestine(1)	86						c.(6034-6036)atC>atT		myosin X							151.0	154.0	153.0					5																	16668425		2008	4173	6181	SO:0001819	synonymous_variant	4651	1	120910	32				g.chr5:16668425G>A	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.6036C>T	chr5.hg19:g.16668425G>A		0					MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I	p.I2012I	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		40	6490	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	1	1	hg19	c.6036C>T	CCDS54834.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000	NM_012334			87	87		556	548	1		1	1		0	0	151	0		1	9.999886e-01	0	18	0	86	0	87	556
MYO10	4651	broad.mit.edu	37	5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1830	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)			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						AGGGCAGCAAGAACCTGGAGG	0.572																																						ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999606	0.990000	1.000000																										0				86						c.(5488-5490)Ctt>Att		myosin X							37.0	43.0	41.0					5																	16671030		2032	4189	6221	SO:0001583	missense	4651	0	0					g.chr5:16671030G>T	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.5488C>A	chr5.hg19:g.16671030G>T	ENSP00000421280:p.Leu1830Ile	0					MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I	p.L1830I	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		39	5942	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	1	1	hg19	c.5488C>A	CCDS54834.1	1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939936	0.52972	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.52	5.52	0.82312	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.94411	0.8202	M	0.85859	2.78	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94752	0.7928	9	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	709;1470;1830	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1830;1169;1187;1169;1187	ENSP00000421280:L1830I;ENSP00000425051:L1169I;ENSP00000274203:L1187I;ENSP00000421170:L1169I;ENSP00000391106:L1187I	ENSP00000274203:L1187I	L	-	1	0	0	MYO10	16724030	16724030	1.000000	0.71417	0.151000	0.22473	0.319000	0.28217	4.901000	0.63259	2.586000	0.87340	0.563000	0.77884	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_012334			25	25		142	137	1		1	1		0	0	38	0		9.999999e-01	9.999978e-01	0	32	0	96	0	25	142
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	G	A	rs374259243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000274203.9_Silent_p.G1065G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1708	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)			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						AGGAGCCGCCGCCATGGCAAT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16999	0.001		0.0	False		,,,				2504	0.0					ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				86						c.(5122-5124)ggC>ggT		myosin X		G		1,3993		0,1,1996	75.0	78.0	77.0		5124	-8.7	0.1	5		77	0,8336		0,0,4168	no	coding-synonymous	MYO10	NM_012334.2		0,1,6164	AA,AG,GG		0.0,0.025,0.0081		1708/2059	16673839	1,12329	1997	4168	6165	SO:0001819	synonymous_variant	4651	3	120926	36				g.chr5:16673839G>A	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.5124C>T	chr5.hg19:g.16673839G>A		0					MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G	p.G1708G	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		36	5578	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	1	1	hg19	c.5124C>T	CCDS54834.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.905840	1	0.170000	NM_012334			36	36		171	169	1		1	1		0	0	35	0		1	9.999927e-01	0	17	0	73	0	36	171
MYO10	4651	broad.mit.edu	37	5	16689992	16689992	+	Silent	SNP	G	G	A	rs371384622	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000274203.9_Silent_p.I636I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1279	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			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						TAATGATGTCGATCCCATTCT	0.463																																						ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999906	0.990000	1.000000																										0				86						c.(3835-3837)atC>atT		myosin X							186.0	180.0	182.0					5																	16689992		2070	4210	6280	SO:0001819	synonymous_variant	4651	30	121002	48				g.chr5:16689992G>A	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.3837C>T	chr5.hg19:g.16689992G>A		0					MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I	p.I1279I	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		28	4291	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	1	1	hg19	c.3837C>T	CCDS54834.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.159708	1	0.170000	NM_012334			32	30		180	177	1		1	1		0	0	48	0		1	9.999340e-01	0	21	0	66	0	32	180
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G1223R(5)		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						GAGCCCCCCCCTTTTTTGTGG	0.557																																						ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										5	Substitution - Missense(5)	p.G1223R(5)	endometrium(4)|prostate(1)	86						c.(3667-3669)Ggg>Agg		myosin X							81.0	82.0	82.0					5																	16694613		1898	4107	6005	SO:0001583	missense	4651	0	0					g.chr5:16694613C>T	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.3667G>A	chr5.hg19:g.16694613C>T	ENSP00000421280:p.Gly1223Arg	0					MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R	p.G1223R	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		27	4121	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	1	1	hg19	c.3667G>A	CCDS54834.1	1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626178	0.66901	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	5.48	5.48	0.80851	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.28433	0.0703	M	0.87381	2.88	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	0.04752	-1.0929	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	102;864;1223	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1223;562;580;562;580	ENSP00000421280:G1223R;ENSP00000425051:G562R;ENSP00000274203:G580R;ENSP00000421170:G562R;ENSP00000391106:G580R	ENSP00000274203:G580R	G	-	1	0	0	MYO10	16747613	16747613	1.000000	0.71417	0.355000	0.25773	0.060000	0.15804	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	0		2	2	2	0		0	0	119		119	115	1	2.060000	-2.341724	0	0.170000	NM_012334			86	79		483	482	1		1	1		0	0	119	0		1	9.997392e-01	0	13	0	56	0	86	483
MYO10	4651	broad.mit.edu	37	5	16701471	16701471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000274203.9_Silent_p.S368S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1011					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)			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						GGCCGTGCTCGCTGGGGTTGG	0.612																																						ENST00000513610.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.995744	0.990000	1.000000																										0				86						c.(3031-3033)agC>agT		myosin X							41.0	47.0	45.0					5																	16701471		2168	4257	6425	SO:0001819	synonymous_variant	4651	4	121218	36				g.chr5:16701471G>A	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.3033C>T	chr5.hg19:g.16701471G>A		0					MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000274203.9_Silent_p.S368S	p.S1011S	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		25	3487	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	1	1	hg19	c.3033C>T	CCDS54834.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.076404	1	0.170000	NM_012334			25	22		183	181	1		1	1		0	0	43	0		9.999999e-01	9.994306e-01	0	15	0	74	0	25	183
MYO10	4651	broad.mit.edu	37	5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	379	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)			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						CCCCTGAGGAACATTGATCTC	0.488																																						ENST00000513610.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				86						c.(1135-1137)Ttc>Ctc		myosin X							131.0	129.0	130.0					5																	16766233		1960	4168	6128	SO:0001583	missense	4651	0	0					g.chr5:16766233A>G	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.1135T>C	chr5.hg19:g.16766233A>G	ENSP00000421280:p.Phe379Leu	0						p.F379L	NM_012334.2	NP_036466.2	0	0	0	1.967783	Q9HD67	MYO10_HUMAN		11	1589	-			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	1	1	hg19	c.1135T>C	CCDS54834.1	1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873472	0.51695	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.86694	-2.16;-2.16	5.05	1.2	0.21068	5.05	1.2	0.21068	Myosin head, motor domain (2);	.	.	.	.	T	0.72724	0.3496	N	0.12471	0.22	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.59204	-0.7498	9	0.48119	T	0.1	.	6.273	0.20965	0.2545:0.1003:0.0:0.6452	.	20;379	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	379;390	ENSP00000421280:F379L;ENSP00000421309:F390L	ENSP00000421280:F379L	F	-	1	0	0	MYO10	16819233	16819233	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.471000	0.45127	-0.042000	0.13535	0.482000	0.46254	TTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-18.059210	1	0.170000	NM_012334			30	27		138	133	1		1	1		0	0	34	0		1	9.998515e-01	0	15	0	52	0	30	138
HMMR	3161	broad.mit.edu	37	5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000358715.3	+	3	191	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000393915.4_Missense_Mutation_p.Q52L|HMMR_ENST00000432118.2_Intron			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	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;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAATCTAAACAAAATCTTAAT	0.343																																						ENST00000358715.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(154-156)cAa>cTa		hyaluronan-mediated motility receptor (RHAMM)	Hyaluronan(DB08818)						113.0	112.0	113.0					5																	162891738		2203	4300	6503	SO:0001583	missense	3161	0	0					g.chr5:162891738A>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.155A>T	chr5.hg19:g.162891738A>T	ENSP00000351554:p.Gln52Leu	0					HMMR_ENST00000432118.2_Intron|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000393915.4_Missense_Mutation_p.Q52L	p.Q52L			1	2	3	2.006602	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	3	191	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	1	1	hg19	c.155A>T	CCDS4362.1	1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756322	0.31137	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	T;T;T	0.09163	3.01;3.04;3.04	5.0	3.82	0.43975	5.0	3.82	0.43975	.	0.570850	0.18749	N	0.132230	T	0.13157	0.0319	N	0.24115	0.695	0.30261	N	0.793177	P;P;P	0.52692	0.955;0.902;0.902	P;B;P	0.53861	0.736;0.442;0.523	T	0.03077	-1.1075	10	0.59425	D	0.04	-14.182	9.073	0.36504	0.8144:0.1856:0.0:0.0	.	52;52;52	O75330-3;O75330-2;O75330	.;.;HMMR_HUMAN	L	52	ENSP00000185942:Q52L;ENSP00000377492:Q52L;ENSP00000351554:Q52L	ENSP00000185942:Q52L	Q	+	2	0	0	HMMR	162824316	162824316	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.570000	0.45981	0.848000	0.35191	-0.316000	0.08728	CAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_012484			57	57		207	202	1		1	1		0	0	57	0		1	8.362616e-01	0	3	0	11	0	57	207
WWC1	23286	broad.mit.edu	37	5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	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	106					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)			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)		GGCCCAGGAGGCTCTGAGTGC	0.562																																						ENST00000265293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(316-318)Gct>Act		WW and C2 domain containing 1							106.0	106.0	106.0					5																	167812302		2203	4300	6503	SO:0001583	missense	23286	0	0					g.chr5:167812302G>A	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.316G>A	chr5.hg19:g.167812302G>A	ENSP00000265293:p.Ala106Thr	0					WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	1	2	3	2.006602	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	3	818	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	1	1	hg19	c.316G>A	CCDS4366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.630000|5.630000	0.96671|0.96671	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06449|.	3.3;3.3|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.502;1.0;0.995|.	B;D;D|.	0.87578|.	0.28;0.998;0.962|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.42905|.	T|.	0.14|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;12;106|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	T|D	106|67	ENSP00000265293:A106T;ENSP00000427772:A106T|.	ENSP00000265293:A106T|.	A|G	+|+	1|2	0|0	0|0	WWC1|WWC1	167744880|167744880	167744880|167744880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCT|GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_015238			53	51		265	260	1		1	1		0	0	83	0		1	1	0	96	0	149	0	53	265
WWC1	23286	broad.mit.edu	37	5	167833206	167833206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	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	198					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)			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)		CTCCTAGAATCGATAAGAAAA	0.483																																						ENST00000265293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(592-594)atC>atT		WW and C2 domain containing 1							129.0	118.0	122.0					5																	167833206		2203	4300	6503	SO:0001819	synonymous_variant	23286	1	121412	30				g.chr5:167833206C>T	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.594C>T	chr5.hg19:g.167833206C>T		0					WWC1_ENST00000521089.1_Silent_p.I198I	p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	1	2	3	2.006602	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	6	1096	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	1	1	hg19	c.594C>T	CCDS4366.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317446	0.23908	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.45	3.39	0.38822	5.45	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0813	0.09927	0.0:0.472:0.0:0.528	.	.	.	.	X	160	.	.	R	+	1	2	2	WWC1	167765784	167765784	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.284000	0.44531	0.561000	0.74099	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_015238			96	94		453	442	1		1	1		0	0	133	0		1	1	0	69	0	119	0	96	453
WWC1	23286	broad.mit.edu	37	5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	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	512					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)			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)		GACCCAGAAGGCAGAGGGAGG	0.657																																						ENST00000265293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1534-1536)Gca>Aca		WW and C2 domain containing 1							71.0	57.0	62.0					5																	167850797		2203	4300	6503	SO:0001583	missense	23286	0	0					g.chr5:167850797G>A	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.1534G>A	chr5.hg19:g.167850797G>A	ENSP00000265293:p.Ala512Thr	0					WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	1	2	3	2.006602	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	2036	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	1	1	hg19	c.1534G>A	CCDS4366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.707|0.707	-0.788550|-0.788550	0.02884|0.02884	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.39229|.	1.09;1.09|.	5.22|5.22	2.48|2.48	0.30137|0.30137	5.22|5.22	2.48|2.48	0.30137|0.30137	.|.	0.522413|.	0.20287|.	N|.	0.095337|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04043|0.04043	-0.29|-0.29	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.001;0.007;0.007;0.002|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07990|.	T|.	0.79|.	.|.	7.9508|7.9508	0.30014|0.30014	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	512;418;418;512|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|D	512|473;288	ENSP00000265293:A512T;ENSP00000427772:A512T|.	ENSP00000265293:A512T|.	A|G	+|+	1|2	0|0	0|0	WWC1|WWC1	167783375|167783375	167783375|167783375	0.966000|0.966000	0.33281|0.33281	0.439000|0.439000	0.26833|0.26833	0.013000|0.013000	0.08279|0.08279	1.428000|1.428000	0.34892|0.34892	0.605000|0.605000	0.29947|0.29947	0.655000|0.655000	0.94253|0.94253	GCA|GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_015238			53	52		273	267	1		1	1		0	0	54	0		1	1	0	90	0	122	0	53	273
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	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	914	Interaction with histone H3.				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)			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)		GCACCCCGTCCCAGGGGCCAT	0.632																																						ENST00000265293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2740-2742)tcC>tcA		WW and C2 domain containing 1							101.0	105.0	104.0					5																	167882444		2203	4300	6503	SO:0001819	synonymous_variant	23286	0	0					g.chr5:167882444C>A	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.2742C>A	chr5.hg19:g.167882444C>A		0					WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	1	2	3	2.006602	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	19	3244	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	1	1	hg19	c.2742C>A	CCDS4366.1	1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291924	0.01375	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.46	-2.98	0.05513	5.46	-2.98	0.05513	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	.	0.9385	0.01350	0.2684:0.2673:0.2657:0.1986	.	.	.	.	T	876;691	.	.	P	+	1	0	0	WWC1	167815022	167815022	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.200000	0.01237	-0.511000	0.06514	-0.768000	0.03414	CCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1		2	2	2	0		0	0	172		172	172	1	2.060000	-20.000000	1	0.170000	NM_015238			164	164		710	699	1		1	1		0	0	172	0		1	1	0	116	0	141	0	164	710
WWC1	23286	broad.mit.edu	37	5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T	rs527539467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	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	997	Interaction with histone H3.				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)			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)		GACCTGCAGGCGACAAGAACC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.001					ENST00000265293.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(2989-2991)gCg>gTg		WW and C2 domain containing 1							69.0	67.0	68.0					5																	167891807		2203	4300	6503	SO:0001583	missense	23286	15	121412	42				g.chr5:167891807C>T	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.2990C>T	chr5.hg19:g.167891807C>T	ENSP00000265293:p.Ala997Val	0					WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	p.A997V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	1	2	3	2.006602	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	21	3492	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	1	1	hg19	c.2990C>T	CCDS4366.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036953	0.54896	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.51325	0.71;0.71;0.71	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.060571	0.64402	D	0.000003	T	0.63651	0.2529	L	0.46819	1.47	0.58432	D	0.999991	D;B	0.89917	1.0;0.45	D;B	0.80764	0.994;0.046	T	0.63435	-0.6638	10	0.48119	T	0.1	.	18.6288	0.91352	0.0:1.0:0.0:0.0	.	1003;997	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	V	997;1003;329	ENSP00000265293:A997V;ENSP00000427772:A1003V;ENSP00000428084:A329V	ENSP00000265293:A997V	A	+	2	0	0	WWC1	167824385	167824385	1.000000	0.71417	0.952000	0.39060	0.064000	0.16182	4.558000	0.60789	2.405000	0.81733	0.555000	0.69702	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_015238			55	54		322	314	1		1	1		0	0	74	0		1	1	0	112	0	211	0	55	322
RARS	5917	broad.mit.edu	37	5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	232					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)			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)		AGGGTATGACGTGCTCAGGTA	0.408																																						ENST00000231572.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(694-696)Gtg>Atg		arginyl-tRNA synthetase							171.0	162.0	165.0					5																	167922434		2203	4300	6503	SO:0001583	missense	5917	8	121412	41				g.chr5:167922434G>A	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.694G>A	chr5.hg19:g.167922434G>A	ENSP00000231572:p.Val232Met	0					RARS_ENST00000538719.1_Missense_Mutation_p.V26M	p.V232M	NM_002887.3	NP_002878.2	1	2	3	2.006602	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	6	748	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	1	1	hg19	c.694G>A	CCDS4367.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573133	0.86542	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.76709	-1.04;-0.81	5.03	5.03	0.67393	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94383	0.7606	10	0.87932	D	0	-14.2961	18.4023	0.90520	0.0:0.0:1.0:0.0	.	232	P54136	SYRC_HUMAN	M	232;26	ENSP00000231572:V232M;ENSP00000439108:V26M	ENSP00000231572:V232M	V	+	1	0	0	RARS	167855012	167855012	1.000000	0.71417	0.905000	0.35620	0.754000	0.42855	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_002887			135	135		506	499	1		1	1		0	0	109	0		1	1	0	65	0	172	0	135	506
RARS	5917	broad.mit.edu	37	5	167929034	167929034	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Silent_p.D121D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					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)			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)		ATGCATTGGACGTCTCTTTAA	0.308																																						ENST00000231572.3	1.000000	0.550000	9.900000e-01	6.700000e-01	0.800000	0.812688	0.800000	1.000000																										0				22						c.(979-981)gaC>gaT		arginyl-tRNA synthetase							93.0	100.0	98.0					5																	167929034		2202	4293	6495	SO:0001819	synonymous_variant	5917	1	121392	38				g.chr5:167929034C>T	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.981C>T	chr5.hg19:g.167929034C>T		0					RARS_ENST00000538719.1_Silent_p.D121D|RARS_ENST00000520421.1_3'UTR	p.D327D	NM_002887.3	NP_002878.2	1	2	3	2.006602	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	9	1035	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	1	1	hg19	c.981C>T	CCDS4367.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-7.474020	1	0.170000	NM_002887			32	32		448	443	0		1	1		0	0	120	0		1	9.999968e-01	0	34	0	239	0	32	448
SLIT3	6586	broad.mit.edu	37	5	168112785	168112785	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1154	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			TGAGCTTCTCGCATCTGGGGC	0.647																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(3460-3462)tgC>tgT		slit homolog 3 (Drosophila)							57.0	58.0	58.0					5																	168112785		2203	4300	6503	SO:0001819	synonymous_variant	6586	1	121408	31				g.chr5:168112785G>A	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.3462C>T	chr5.hg19:g.168112785G>A		0					SLIT3_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	1	2	3	2.006602	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	31	3881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	1	1	hg19	c.3462C>T	CCDS4369.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_003062			52	52		249	242	1		1	0		0	0	39	0		1	9.497775e-01	0	0	0	26	0	52	249
SLIT3	6586	broad.mit.edu	37	5	168139347	168139347	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G|SLIT3_ENST00000332966.8_Silent_p.G832G|CTC-558O2.1_ENST00000521870.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	832					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)			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)			AAATGTCATTGCCATGGAGGG	0.493																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1	1.000000	0.600000	1	7.400000e-01	0.910000	0.884924	0.910000	1.000000																										0				100						c.(2494-2496)ggC>ggA		slit homolog 3 (Drosophila)							140.0	127.0	131.0					5																	168139347		2203	4300	6503	SO:0001819	synonymous_variant	6586	0	0					g.chr5:168139347G>T	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.2496C>A	chr5.hg19:g.168139347G>T		0					CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.G832G	p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	1	2	3	2.006602	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	24	2915	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	1	1	hg19	c.2496C>A	CCDS4369.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-8.151310	1	0.170000	NM_003062			25	24		307	297	0		1	0		0	0	81	0		9.999998e-01	2.690689e-01	0	0	0	13	0	25	307
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				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)			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)			CCAACTGTCCGTCGCTGTCGC	0.612																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(700-702)Cgg>Tgg		slit homolog 3 (Drosophila)							74.0	67.0	70.0					5																	168244398		2203	4300	6503	SO:0001583	missense	6586	4	121412	34				g.chr5:168244398G>A	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.700C>T	chr5.hg19:g.168244398G>A	ENSP00000430333:p.Arg234Trp	0					SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	1	2	3	2.006602	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	8	1119	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	1	1	hg19	c.700C>T	CCDS4369.1	1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826038	0.71143	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	-0.0254	0.13935	5.62	-0.0254	0.13935	Cysteine-rich flanking region, C-terminal (1);	0.169770	0.49305	D	0.000159	T	0.79879	0.4522	L	0.45137	1.4	0.28541	N	0.912114	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.63957	0.895;0.92;0.757	T	0.75311	-0.3362	10	0.87932	D	0	.	11.5006	0.50435	0.0:0.1126:0.3165:0.5709	.	234;234;234	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	W	234	ENSP00000430333:R234W;ENSP00000332164:R234W;ENSP00000384890:R234W	ENSP00000332164:R234W	R	-	1	2	2	SLIT3	168176976	168176976	0.997000	0.39634	0.813000	0.32504	0.990000	0.78478	3.642000	0.54367	-0.019000	0.14055	0.561000	0.74099	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1		18	3	2	1		1	1	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_003062			57	56		249	241	1		1	0		1	0	55	0		9.999995e-01	6.380617e-01	0	0	0	17	0	57	249
SLIT3	6586	broad.mit.edu	37	5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	153					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)			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)			TGATGCCGCGGAACGCCTTCC	0.498																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(457-459)ttC>ttA		slit homolog 3 (Drosophila)							127.0	106.0	113.0					5																	168310296		2203	4300	6503	SO:0001583	missense	6586	0	0					g.chr5:168310296G>T	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.459C>A	chr5.hg19:g.168310296G>T	ENSP00000430333:p.Phe153Leu	0					SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	1	2	3	2.006602	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	5	878	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	1	1	hg19	c.459C>A	CCDS4369.1	1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916738	0.52546	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.64803	-0.12;-0.12;-0.12	4.97	4.1	0.47936	4.97	4.1	0.47936	.	0.057875	0.64402	D	0.000002	T	0.66167	0.2762	L	0.41236	1.265	0.51482	D	0.999922	D;D	0.89917	0.99;1.0	D;D	0.91635	0.979;0.999	T	0.63097	-0.6713	10	0.33141	T	0.24	.	6.2219	0.20685	0.3298:0.0:0.6702:0.0	.	153;153	O75094-2;O75094	.;SLIT3_HUMAN	L	153	ENSP00000430333:F153L;ENSP00000332164:F153L;ENSP00000384890:F153L	ENSP00000332164:F153L	F	-	3	2	2	SLIT3	168242874	168242874	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.645000	0.54389	1.081000	0.41110	-0.140000	0.14226	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.229435	1	0.170000	NM_003062			56	54		304	293	1		1	0		0	0	67	0		1	3.045203e-01	0	0	0	7	0	56	304
DOCK2	1794	broad.mit.edu	37	5	169116331	169116331	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	279					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)			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)			TGAAGGTGGTCTTCACGGTGA	0.552																																						ENST00000256935.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				160						c.(835-837)gtC>gtA		dedicator of cytokinesis 2							151.0	126.0	134.0					5																	169116331		2203	4300	6503	SO:0001819	synonymous_variant	1794	0	0					g.chr5:169116331C>A	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.837C>A	chr5.hg19:g.169116331C>A		0						p.V279V	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	9	917	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	1	1	hg19	c.837C>A	CCDS4371.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_004946			40	40		171	169	1		1	0		0	0	72	0		1	9.868455e-01	0	0	0	32	0	40	171
DOCK2	1794	broad.mit.edu	37	5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000256935.8	+	16	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	512	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)			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)			TTCATGTTTCGACATCGGTCA	0.498																																						ENST00000256935.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				160						c.(1534-1536)cGa>cAa		dedicator of cytokinesis 2							203.0	171.0	182.0					5																	169138991		2203	4300	6503	SO:0001583	missense	1794	0	0					g.chr5:169138991G>A	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.1535G>A	chr5.hg19:g.169138991G>A	ENSP00000256935:p.Arg512Gln	0					DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N|DOCK2_ENST00000540750.1_5'UTR	p.R512Q	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	16	1615	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	1	1	hg19	c.1535G>A	CCDS4371.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.340564|5.340564	0.95783|0.95783	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.07327|0.13778	3.2|2.56	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44180|0.44180	0.1281|0.1281	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	P|D;D	0.36483|0.89917	0.555|1.0;1.0	B|D;D	0.28553|0.87578	0.091|0.996;0.998	T|T	0.43845|0.43845	-0.9366|-0.9366	9|10	0.30078|0.66056	T|D	0.28|0.02	.|.	19.3773|19.3773	0.94517|0.94517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|512;512	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	N|Q	39|512;30	ENSP00000429283:D39N|ENSP00000256935:R512Q	ENSP00000429283:D39N|ENSP00000256935:R512Q	D|R	+|+	1|2	0|0	0|0	DOCK2|DOCK2	169071569|169071569	169071569|169071569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.956000|7.956000	0.87863|0.87863	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000	NM_004946			85	83		412	399	1		1	0		0	0	101	0		1	9.994010e-01	0	0	0	55	0	85	412
DOCK2	1794	broad.mit.edu	37	5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	rs112062072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000256935.8	+	26	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	880					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)			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)			ACACCAGGTCCTGGAGAGGAA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18761	0.0		0.001	False		,,,				2504	0.0					ENST00000256935.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				160						c.(2638-2640)Ctg>Atg		dedicator of cytokinesis 2		C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	148.0	125.0	133.0		2638	3.6	0.1	5	dbSNP_132	133	9,8591	7.1+/-27.0	0,9,4291	yes	missense	DOCK2	NM_004946.2	15	0,10,6493	AA,AC,CC		0.1047,0.0227,0.0769	benign	880/1831	169230145	10,12996	2203	4300	6503	SO:0001583	missense	1794	42	121412	50				g.chr5:169230145C>A	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.2638C>A	chr5.hg19:g.169230145C>A	ENSP00000256935:p.Leu880Met	0					DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	p.L880M	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	26	2718	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	1	1	hg19	c.2638C>A	CCDS4371.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.81	1.749829	0.30955	2.27E-4	0.001047	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21361	2.01;2.01;2.01	5.36	3.56	0.40772	5.36	3.56	0.40772	.	0.921684	0.09265	N	0.825915	T	0.11067	0.0270	N	0.08118	0	0.42644	D	0.99342	B;B	0.30709	0.291;0.042	B;B	0.24541	0.054;0.037	T	0.07731	-1.0757	10	0.54805	T	0.06	.	8.148	0.31124	0.282:0.6461:0.0:0.0719	.	372;880	E7ERW7;Q92608	.;DOCK2_HUMAN	M	880;261;372;84	ENSP00000256935:L880M;ENSP00000429283:L372M;ENSP00000428841:L84M	ENSP00000256935:L880M	L	+	1	2	2	DOCK2	169162723	169162723	0.088000	0.21588	0.133000	0.22050	0.957000	0.61999	0.944000	0.29043	0.733000	0.32492	0.655000	0.94253	CTG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-2.955752	1	0.170000	NM_004946			59	58		246	241	1		1	0		0	0	78	0		1	9.993872e-01	0	0	0	49	0	59	246
DOCK2	1794	broad.mit.edu	37	5	169412848	169412848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169412848C>T	ENST00000256935.8	+	29	2995	c.2915C>T	c.(2914-2916)aCc>aTc	p.T972I	DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I|DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	972	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)			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)			TTGATGGAGACCTTCATCATG	0.453																																						ENST00000256935.8	1.000000	0.130000	3.400000e-01	1.800000e-01	0.240000	0.302172	0.240000	0.230000																										0				160						c.(2914-2916)aCc>aTc		dedicator of cytokinesis 2							251.0	231.0	238.0					5																	169412848		2203	4300	6503	SO:0001583	missense	1794	0	0					g.chr5:169412848C>T	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.2915C>T	chr5.hg19:g.169412848C>T	ENSP00000256935:p.Thr972Ile	0					DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I	p.T972I	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	29	2995	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	0	1	hg19	c.2915C>T	CCDS4371.1	0	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167730	0.21621	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.28255	1.62;1.62;1.62	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.113505	0.64402	D	0.000016	T	0.26774	0.0655	N	0.05330	-0.07	0.47949	D	0.999556	B;D	0.63880	0.024;0.993	B;P	0.56343	0.022;0.796	T	0.03051	-1.1078	10	0.02654	T	1	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	464;972	E7ERW7;Q92608	.;DOCK2_HUMAN	I	972;464;33	ENSP00000256935:T972I;ENSP00000429283:T464I;ENSP00000438827:T33I	ENSP00000256935:T972I	T	+	2	0	0	DOCK2	169345426	169345426	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	5.986000	0.70563	2.426000	0.82243	0.561000	0.74099	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-3.347801	1	0.170000	NM_004946			13	13		651	638	0		1	0		0	0	173	0		9.994712e-01	4.725428e-01	0	1	0	76	0	13	651
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	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.R1357W(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)			CTCCTTCCTGCGGGTGAGTTT	0.542																																						ENST00000256935.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1357W(1)	kidney(1)	160						c.(4069-4071)Cgg>Tgg		dedicator of cytokinesis 2							68.0	68.0	68.0					5																	169474616		2203	4300	6503	SO:0001583	missense	1794	0	0					g.chr5:169474616C>T	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.4069C>T	chr5.hg19:g.169474616C>T	ENSP00000256935:p.Arg1357Trp	0					DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	p.R1357W	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	40	4149	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	1	1	hg19	c.4069C>T	CCDS4371.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	2	DOCK2	169407194	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_004946			44	44		219	215	1		1	0		0	0	43	0		1	9.999883e-01	0	0	0	88	0	44	219
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			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)			AGATAACTTGCGACCCTTCCA	0.502																																						ENST00000256935.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				160						c.(4786-4788)Cga>Tga		dedicator of cytokinesis 2							161.0	158.0	159.0					5																	169503008		2203	4300	6503	SO:0001587	stop_gained	1794	0	0					g.chr5:169503008C>T	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.4786C>T	chr5.hg19:g.169503008C>T	ENSP00000256935:p.Arg1596*	0					DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*	p.R1596*	NM_004946.2	NP_004937.1	1	2	3	2.006602	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	47	4866	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	0	1	hg19	c.4786C>T	CCDS4371.1	1	.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	2	DOCK2	169435586	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_004946			126	126		604	596	1		1	0		0	0	135	0		1	9.999935e-01	0	0	0	82	0	126	604
FOXI1	2299	broad.mit.edu	37	5	169533265	169533265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	ENST00000306268.6	+	1	365	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_ENST00000449804.2_Missense_Mutation_p.L102F			Q12951	FOXI1_HUMAN	forkhead box I1	102					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGTCGGGGCTTGGGGGGAG	0.697									Pendred syndrome																													ENST00000306268.6	1.000000	0.630000	1	9.800000e-01	0.990000	0.967603	0.990000	1.000000																										0				35						c.(304-306)Ctt>Ttt		forkhead box I1							12.0	11.0	11.0					5																	169533265		2192	4277	6469	SO:0001583	missense	2299	0	0		Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	g.chr5:169533265C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.304C>T	chr5.hg19:g.169533265C>T	ENSP00000304286:p.Leu102Phe	0					FOXI1_ENST00000449804.2_Missense_Mutation_p.L102F	p.L102F			1	2	3	2.006602	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	1	365	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	0	1	hg19	c.304C>T	CCDS4372.1	1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194894	0.22037	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94613	-3.33;-3.47	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.167611	0.39274	N	0.001411	D	0.87418	0.6172	L	0.28608	0.87	0.40183	D	0.977319	B;B	0.31931	0.347;0.236	B;B	0.28011	0.085;0.039	T	0.83332	-0.0012	10	0.23302	T	0.38	.	6.2189	0.20671	0.0:0.7619:0.0:0.2381	.	102;102	Q12951-2;Q12951	.;FOXI1_HUMAN	F	102	ENSP00000304286:L102F;ENSP00000415483:L102F	ENSP00000304286:L102F	L	+	1	0	0	FOXI1	169465843	169465843	0.664000	0.27457	0.993000	0.49108	0.405000	0.30901	1.050000	0.30404	2.202000	0.70862	0.655000	0.94253	CTT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-12.788920	1	0.170000	NM_144769, NM_012188			6	6		42	41	0		1	0		0	0	8	0		9.661518e-01	0	0	0	0	1	0	6	42
RANBP17	64901	broad.mit.edu	37	5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	252					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			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)			ACAACTTGGAGAACAAGTAAG	0.373			T	TRD@	ALL																																	ENST00000523189.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999642	0.990000	1.000000				Dom	yes			Dom	yes		5	5q34	5q34	64901	T	RAN binding protein 17				L	L	TRD@		ALL		0				50						c.(754-756)aGa>aTa		RAN binding protein 17							47.0	44.0	45.0					5																	170338133		2203	4299	6502	SO:0001583	missense	64901	0	0					g.chr5:170338133G>T	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.755G>T	chr5.hg19:g.170338133G>T	ENSP00000427975:p.Arg252Ile	0						p.R252I	NM_022897.3	NP_075048.1	1	2	3	2.006602	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	7	919	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	1	1	hg19	c.755G>T	CCDS34287.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.7|25.7	4.661002|4.661002	0.88154|0.88154	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.29397	.|1.57	5.43|5.43	4.56|4.56	0.56223|0.56223	5.43|5.43	4.56|4.56	0.56223|0.56223	.|Armadillo-type fold (1);	.|0.089808	.|0.49305	.|D	.|0.000156	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71803|0.71803	-0.4482|-0.4482	5|10	.|0.59425	.|D	.|0.04	-10.4345|-10.4345	13.8894|13.8894	0.63729|0.63729	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|252	.|Q9H2T7	.|RBP17_HUMAN	D|I	34|252;148	.|ENSP00000427975:R252I	.|ENSP00000373770:R252I	E|R	+|+	3|2	2|0	2|0	RANBP17|RANBP17	170270711|170270711	170270711|170270711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.608000|6.608000	0.74168|0.74168	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_022897			28	27		176	174	1		1	1		0	0	35	0		1	2.568776e-01	0	4	0	3	0	28	176
RANBP17	64901	broad.mit.edu	37	5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	324					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			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)			GTCTGATCCAGGTAATTATCA	0.333			T	TRD@	ALL																																	ENST00000523189.1	1.000000	0.480000	1	6.300000e-01	0.820000	0.818633	0.820000	1.000000				Dom	yes			Dom	yes		5	5q34	5q34	64901	T	RAN binding protein 17				L	L	TRD@		ALL		0				50						c.(970-972)Ggt>Tgt		RAN binding protein 17							138.0	134.0	136.0					5																	170345732		2203	4299	6502	SO:0001583	missense	64901	0	0					g.chr5:170345732G>T	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.970G>T	chr5.hg19:g.170345732G>T	ENSP00000427975:p.Gly324Cys	0						p.G324C	NM_022897.3	NP_075048.1	1	2	3	2.006602	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	10	1134	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	1	1	hg19	c.970G>T	CCDS34287.1	0	.	.	.	.	.	.	.	.	.	.	g	21.1	4.104061	0.76983	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.49432	0.78	5.74	5.74	0.90152	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.56217	0.1970	L	0.53249	1.67	0.42504	D	0.992947	D	0.62365	0.991	P	0.54759	0.76	T	0.58836	-0.7566	10	0.66056	D	0.02	-15.4537	12.8262	0.57721	0.0754:0.0:0.9246:0.0	.	324	Q9H2T7	RBP17_HUMAN	C	324;220	ENSP00000427975:G324C	ENSP00000373770:G324C	G	+	1	0	0	RANBP17	170278337	170278337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.096000	0.57734	2.712000	0.92718	0.491000	0.48974	GGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.221633	1	0.170000	NM_022897			16	16		221	218	0		1	0		0	0	52	0		9.999360e-01	5.290456e-03	0	0	0	2	0	16	221
RANBP17	64901	broad.mit.edu	37	5	170632528	170632528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	715					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.R715S(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)			CCACTGACAGCGTATGTTGAT	0.428			T	TRD@	ALL																																	ENST00000523189.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q34	5q34	64901	T	RAN binding protein 17				L	L	TRD@		ALL		1	Substitution - Missense(1)	p.R715S(1)	skin(1)	50						c.(2143-2145)Cgt>Tgt		RAN binding protein 17							161.0	138.0	146.0					5																	170632528		2203	4300	6503	SO:0001630	splice_region_variant	64901	2	121412	37				g.chr5:170632528C>T	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.2143-1C>T	chr5.hg19:g.170632528C>T		0					RANBP17_ENST00000521759.1_3'UTR	p.R715C	NM_022897.3	NP_075048.1	1	2	3	2.006602	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	20	2307	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q8IU74	Splice_Site	SNP	ENST00000523189.1	1	0	hg19	c.2143C>T	CCDS34287.1	1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845396	0.71603	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	5.96	5.96	0.96718	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.80059	0.4554	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.932;0.969;0.932	T	0.78986	-0.1987	9	.	.	.	-11.8389	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	715;40;715	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	C	715;145	ENSP00000427975:R715C	.	R	+	1	0	0	RANBP17	170565133	170565133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	2.832000	0.97577	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.153530	1	0.170000	NM_022897	Missense_Mutation		45	45		213	208	1		1	0		0	0	61	0		1	4.886833e-01	0	0	0	9	0	45	213
RANBP17	64901	broad.mit.edu	37	5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	845					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			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)			GTGTGGAAATTATGTCAGCTT	0.453			T	TRD@	ALL																																	ENST00000523189.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q34	5q34	64901	T	RAN binding protein 17				L	L	TRD@		ALL		0				50						c.(2533-2535)Tat>Cat		RAN binding protein 17							275.0	261.0	266.0					5																	170668042		2203	4300	6503	SO:0001583	missense	64901	0	0					g.chr5:170668042T>C	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.2533T>C	chr5.hg19:g.170668042T>C	ENSP00000427975:p.Tyr845His	0					RANBP17_ENST00000521759.1_3'UTR	p.Y845H	NM_022897.3	NP_075048.1	1	2	3	2.006602	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	23	2697	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	1	1	hg19	c.2533T>C	CCDS34287.1	1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455417	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.63255	-0.03	5.43	5.43	0.79202	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.50627	D	0.000108	D	0.84092	0.5396	M	0.93808	3.46	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88025	0.2771	10	0.59425	D	0.04	-9.9405	15.4819	0.75534	0.0:0.0:0.0:1.0	.	845;845	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	845;275	ENSP00000427975:Y845H	ENSP00000427975:Y845H	Y	+	1	0	0	RANBP17	170600647	170600647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.067000	0.61834	0.455000	0.32223	TAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_022897			243	243		894	882	1		1	0		0	0	191	0		1	5.365167e-01	0	0	0	8	0	243	894
FGF18	8817	broad.mit.edu	37	5	170883635	170883635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170883635C>T	ENST00000274625.5	+	5	994	c.450C>T	c.(448-450)taC>taT	p.Y150Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	150					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGGCTGGTACGTGGGCTTCA	0.622																																						ENST00000274625.5	1.000000	0.130000	3.200000e-01	1.700000e-01	0.230000	0.296003	0.230000	0.230000																										0				9						c.(448-450)taC>taT		fibroblast growth factor 18							86.0	90.0	89.0					5																	170883635		2203	4300	6503	SO:0001819	synonymous_variant	8817	4	121412	41				g.chr5:170883635C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.450C>T	chr5.hg19:g.170883635C>T		0						p.Y150Y	NM_003862.2	NP_003853.1	1	2	3	2.006602	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	5	994	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	0	1	hg19	c.450C>T	CCDS4378.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	0	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-2.929818	1	0.170000	NM_033649, NM_003862			15	15		766	749	0		1	0		0	0	129	0		9.998471e-01	8.784747e-02	0	1	0	23	0	15	766
FBXW11	23291	broad.mit.edu	37	5	171305026	171305026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000265094.5	-	7	1034	c.897T>C	c.(895-897)gaT>gaC	p.D299D	FBXW11_ENST00000296933.6_Silent_p.D286D|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000425623.2_Silent_p.D267D|FBXW11_ENST00000522891.1_5'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	299					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458																																						ENST00000265094.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(895-897)gaT>gaC		F-box and WD repeat domain containing 11							111.0	96.0	101.0					5																	171305026		2203	4300	6503	SO:0001819	synonymous_variant	23291	0	0					g.chr5:171305026A>G	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.897T>C	chr5.hg19:g.171305026A>G		0					FBXW11_ENST00000425623.2_Silent_p.D267D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Silent_p.D286D|FBXW11_ENST00000393802.2_Silent_p.D265D	p.D299D	NM_012300.2	NP_036432.2	1	2	3	2.006602	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	7	1034	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	1	1	hg19	c.897T>C	CCDS34289.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_012300			59	58		192	190	1		1	1		0	0	44	0		1	1	0	15	0	88	0	59	192
FBXW11	23291	broad.mit.edu	37	5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000265094.5	-	4	517	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FBXW11_ENST00000296933.6_Missense_Mutation_p.G114D|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D|FBXW11_ENST00000522891.1_5'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	127					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428																																						ENST00000265094.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(379-381)gGc>gAc		F-box and WD repeat domain containing 11							98.0	98.0	98.0					5																	171327098		2203	4300	6503	SO:0001583	missense	23291	0	0					g.chr5:171327098C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.380G>A	chr5.hg19:g.171327098C>T	ENSP00000265094:p.Gly127Asp	0					FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.G114D|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D	p.G127D	NM_012300.2	NP_036432.2	1	2	3	2.006602	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	4	517	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	1	1	hg19	c.380G>A	CCDS34289.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645290	0.87859	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.48	4.48	0.54585	4.48	4.48	0.54585	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.964;0.973;0.974;0.988	T	0.63180	-0.6695	10	0.66056	D	0.02	-11.0944	17.1401	0.86750	0.0:1.0:0.0:0.0	.	95;93;127;114	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	D	114;127;93;95;148	ENSP00000296933:G114D;ENSP00000265094:G127D;ENSP00000377391:G93D;ENSP00000444929:G95D;ENSP00000428753:G148D	ENSP00000265094:G127D	G	-	2	0	0	FBXW11	171259703	171259703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.195000	0.70347	0.462000	0.41574	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_012300			117	116		498	491	0		1	1		0	0	124	0		1	1	0	26	0	136	0	117	498
STK10	6793	broad.mit.edu	37	5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)			CCAGGGCTATCTTCAGGAAGT	0.597																																						ENST00000176763.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(814-816)aaG>aaT		serine/threonine kinase 10							112.0	99.0	104.0					5																	171532714		2203	4300	6503	SO:0001583	missense	6793	0	0					g.chr5:171532714C>A	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.816G>T	chr5.hg19:g.171532714C>A	ENSP00000176763:p.Lys272Asn	0						p.K272N	NM_005990.3	NP_005981.3	1	2	3	2.006602	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	7	1159	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	1	1	hg19	c.816G>T	CCDS34290.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458121	0.43634	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.20200	2.09	4.74	3.87	0.44632	4.74	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122273	0.53938	D	0.000050	T	0.22513	0.0543	L	0.28504	0.86	0.58432	D	0.999998	P	0.35923	0.528	P	0.45856	0.495	T	0.04373	-1.0956	10	0.66056	D	0.02	.	10.4896	0.44744	0.0:0.9043:0.0:0.0957	.	272	O94804	STK10_HUMAN	N	272	ENSP00000176763:K272N	ENSP00000176763:K272N	K	-	3	2	2	STK10	171465319	171465319	0.984000	0.35163	0.759000	0.31340	0.579000	0.36224	1.338000	0.33873	0.977000	0.38444	0.655000	0.94253	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_005990			67	67		290	287	1		1	1		0	0	68	0		1	9.999878e-01	0	14	0	60	0	67	290
UBTD2	92181	broad.mit.edu	37	5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	228						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478																																						ENST00000393792.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(682-684)aAc>aGc		ubiquitin domain containing 2							53.0	46.0	48.0					5																	171638856		2203	4300	6503	SO:0001583	missense	92181	0	0					g.chr5:171638856T>C	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.683A>G	chr5.hg19:g.171638856T>C	ENSP00000377381:p.Asn228Ser	0						p.N228S	NM_152277.2	NP_689490.2	1	2	3	2.006602	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	3	1088	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	1	1	hg19	c.683A>G	CCDS4379.2	1	.	.	.	.	.	.	.	.	.	.	T	4.827	0.153697	0.09185	.	.	ENSG00000168246	ENST00000393792	T	0.42513	0.97	5.96	-2.33	0.06724	5.96	-2.33	0.06724	.	0.396616	0.32204	N	0.006425	T	0.24084	0.0583	L	0.36672	1.1	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.24483	T	0.36	.	5.6948	0.17849	0.0:0.2646:0.2396:0.4957	.	228	Q8WUN7	UBTD2_HUMAN	S	228	ENSP00000377381:N228S	ENSP00000377381:N228S	N	-	2	0	0	UBTD2	171571461	171571461	1.000000	0.71417	0.035000	0.18076	0.560000	0.35617	0.891000	0.28309	-0.635000	0.05531	-0.250000	0.11733	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_152277			57	54		215	211	1		1	1		0	0	37	0		1	1	0	41	0	103	0	57	215
UBTD2	92181	broad.mit.edu	37	5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	188	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488																																						ENST00000393792.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(562-564)Gaa>Aaa		ubiquitin domain containing 2							134.0	121.0	125.0					5																	171638977		2203	4300	6503	SO:0001583	missense	92181	0	0					g.chr5:171638977C>T	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.562G>A	chr5.hg19:g.171638977C>T	ENSP00000377381:p.Glu188Lys	0						p.E188K	NM_152277.2	NP_689490.2	1	2	3	2.006602	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	3	967	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	1	1	hg19	c.562G>A	CCDS4379.2	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151244	0.38021	.	.	ENSG00000168246	ENST00000393792	T	0.73897	-0.79	5.96	5.96	0.96718	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.237161	0.49305	D	0.000146	T	0.65811	0.2727	N	0.25890	0.77	0.50632	D	0.999882	B	0.26935	0.164	B	0.29077	0.098	T	0.60068	-0.7335	10	0.30078	T	0.28	-13.0712	17.9158	0.88950	0.0:1.0:0.0:0.0	.	188	Q8WUN7	UBTD2_HUMAN	K	188	ENSP00000377381:E188K	ENSP00000377381:E188K	E	-	1	0	0	UBTD2	171571582	171571582	0.997000	0.39634	0.980000	0.43619	0.095000	0.18619	3.298000	0.51818	2.832000	0.97577	0.655000	0.94253	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_152277			124	120		549	537	1		1	1		0	0	120	0		1	1	0	34	0	111	0	124	549
SH3PXD2B	285590	broad.mit.edu	37	5	171780895	171780895	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	ENST00000311601.5	-	9	952	c.782T>G	c.(781-783)aTc>aGc	p.I261S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	261	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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)			CTGGTACCTGATCTTCCACCA	0.602																																						ENST00000311601.5	1.000000	0.220000	5.500000e-01	3.000000e-01	0.400000	0.452882	0.400000	0.380000																										0				36						c.(781-783)aTc>aGc		SH3 and PX domains 2B							73.0	65.0	68.0					5																	171780895		2203	4300	6503	SO:0001583	missense	285590	0	0					g.chr5:171780895A>C	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.782T>G	chr5.hg19:g.171780895A>C	ENSP00000309714:p.Ile261Ser	0					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	p.I261S	NM_001017995.2	NP_001017995.1	1	2	3	2.006602	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	9	952	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	0	1	hg19	c.782T>G	CCDS34291.1	0	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404152	0.83230	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	5.43	5.43	0.79202	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55140	-0.8187	10	0.87932	D	0	.	13.43	0.61049	1.0:0.0:0.0:0.0	.	261	A1X283	SPD2B_HUMAN	S	261	ENSP00000430890:I261S;ENSP00000309714:I261S	ENSP00000309714:I261S	I	-	2	0	0	SH3PXD2B	171713500	171713500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.061000	0.61500	0.459000	0.35465	ATC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-13.719590	1	0.170000	NM_017963			14	13		413	399	0		1	0		0	0	69	0		9.996957e-01	9.459706e-01	0	1	0	147	0	14	413
BASP1	10409	broad.mit.edu	37	5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	49					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697																																						ENST00000322611.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999336	0.990000	1.000000																										0				9						c.(145-147)Gcc>Acc		brain abundant, membrane attached signal protein 1							17.0	23.0	21.0					5																	17275470		2171	4251	6422	SO:0001583	missense	10409	2	119772	24				g.chr5:17275470G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.145G>A	chr5.hg19:g.17275470G>A	ENSP00000319281:p.Ala49Thr	0						p.A49T	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	0	0	0	1.967783	P80723	BASP1_HUMAN		2	405	+			B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	1	1	hg19	c.145G>A	CCDS3888.1	1	.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023250	0.07634	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.37235	1.21	4.57	-2.57	0.06248	4.57	-2.57	0.06248	.	0.106078	0.39687	N	0.001289	T	0.06050	0.0157	N	0.00368	-1.59	0.22811	N	0.998704	B	0.09022	0.002	B	0.11329	0.006	T	0.36915	-0.9728	10	0.02654	T	1	1.1939	5.7382	0.18079	0.4852:0.1426:0.3722:0.0	.	49	P80723	BASP1_HUMAN	T	49	ENSP00000319281:A49T	ENSP00000319281:A49T	A	+	1	0	0	BASP1	17328470	17328470	0.000000	0.05858	0.008000	0.14137	0.730000	0.41778	-0.936000	0.03946	-0.514000	0.06488	0.455000	0.32223	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2	1	0	1		2	2	2	0		0	0	19		19	17	1	2.060000	-20.000000	1	0.170000				19	20		98	92	0		1	0		0	0	19	0		9.999921e-01	9.999991e-01	0	0	0	138	0	19	98
SH3PXD2B	285590	broad.mit.edu	37	5	171821594	171821594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000311601.5	-	4	452	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000519643.1_Silent_p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	94	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)			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)			TTGGTATCAGGCGTTTGACAG	0.468																																						ENST00000311601.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998520	0.990000	1.000000																										0				36						c.(280-282)cgC>cgT		SH3 and PX domains 2B							100.0	93.0	95.0					5																	171821594		2203	4300	6503	SO:0001819	synonymous_variant	285590	0	0					g.chr5:171821594G>A	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.282C>T	chr5.hg19:g.171821594G>A		0					SH3PXD2B_ENST00000519643.1_Silent_p.R94R	p.R94R	NM_001017995.2	NP_001017995.1	1	2	3	2.006602	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	4	452	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	0	1	hg19	c.282C>T	CCDS34291.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	0	0	1		13	12	2	1		1	1	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_017963			21	21		136	135	1		1	0		1	0	45	0		9.452555e-01	9.584626e-01	0	6	0	146	0	21	136
CPEB4	80315	broad.mit.edu	37	5	173316694	173316694	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000334035.5_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_De_novo_Start_InFrame	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						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)			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)			GAGACATCAGGTTGTCATTTT	0.378																																						ENST00000265085.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20								cytoplasmic polyadenylation element binding protein 4							46.0	51.0	49.0					5																	173316694		2202	4300	6502			80315	0	0					g.chr5:173316694G>A	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		chr5.hg19:g.173316694G>A		0					CPEB4_ENST00000519835.1_De_novo_Start_InFrame|CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000334035.5_De_novo_Start_InFrame		NM_030627.2	NP_085130.2	1	2	3	2.006602	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	0	1412	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Translation_Start_Site	SNP	ENST00000265085.5	0	1	hg19		CCDS4390.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_030627			89	88		442	432	0		1	1		0	0	78	0		1	9.984626e-01	0	11	0	39	0	89	442
CPEB4	80315	broad.mit.edu	37	5	173316988	173316988	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	84					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)			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)			AAAGTCAGCAACAGGAACAGC	0.483																																						ENST00000265085.5	1.000000	0.820000	1	9.400000e-01	0.990000	0.979080	0.990000	1.000000																										0				20						c.(250-252)caA>caG		cytoplasmic polyadenylation element binding protein 4							94.0	100.0	98.0					5																	173316988		2203	4300	6503	SO:0001819	synonymous_variant	80315	0	0					g.chr5:173316988A>G	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.252A>G	chr5.hg19:g.173316988A>G		0					CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	p.Q84Q	NM_030627.2	NP_085130.2	1	2	3	2.006602	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	1	1706	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	1	1	hg19	c.252A>G	CCDS4390.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	1	0	1		2	2	2	0		0	0	140		140	140	1	2.060000	-16.292450	1	0.170000	NM_030627			59	56		596	588	0		1	1		0	0	140	0		1	9.786268e-01	0	4	0	59	0	59	596
CPEB4	80315	broad.mit.edu	37	5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)			GACCCACGAAAAACTATATTT	0.428																																						ENST00000265085.5	1.000000	0.740000	1	9.400000e-01	0.990000	0.973733	0.990000	1.000000																										0				20						c.(1738-1740)aAa>aCa		cytoplasmic polyadenylation element binding protein 4							169.0	144.0	152.0					5																	173378900		2203	4300	6503	SO:0001583	missense	80315	0	0					g.chr5:173378900A>C	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.1739A>C	chr5.hg19:g.173378900A>C	ENSP00000265085:p.Lys580Thr	1					CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T	p.K580T	NM_030627.2	NP_085130.2	1	3	4	2.206214	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	8	3193	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	1	1	hg19	c.1739A>C	CCDS4390.1	1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899702	0.91962	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	5.55	0.83447	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	D	0.000000	T	0.47414	0.1444	L	0.52905	1.665	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.994	D;D;D;D;D	0.76071	0.987;0.982;0.96;0.917;0.96	T	0.45716	-0.9242	10	0.87932	D	0	-16.4703	15.993	0.80220	1.0:0.0:0.0:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	T	580;555;563;555;190;173	ENSP00000265085:K580T;ENSP00000429092:K555T;ENSP00000334533:K563T;ENSP00000429048:K555T;ENSP00000430345:K190T;ENSP00000427990:K173T	ENSP00000265085:K580T	K	+	2	0	0	CPEB4	173311506	173311506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.236000	0.73375	0.528000	0.53228	AAA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_030627			21	20		225	221	0		1	1		0	0	67	0		9.999976e-01	9.698574e-01	0	7	0	57	0	21	225
DRD1	1812	broad.mit.edu	37	5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	226					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGCGCCGTATTTGTTTC	0.493																																						ENST00000393752.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(676-678)Cgg>Tgg		dopamine receptor D1	Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)						124.0	121.0	122.0					5																	174869427		2203	4300	6503	SO:0001583	missense	1812	1	121412	34				g.chr5:174869427G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.676C>T	chr5.hg19:g.174869427G>A	ENSP00000377353:p.Arg226Trp	1						p.R226W	NM_000794.3	NP_000785.1	1	3	4	2.206214	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	2	1668	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	1	1	hg19	c.676C>T	CCDS4393.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637339	0.67130	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.43294	0.95	5.39	4.47	0.54385	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	13.2032	0.59780	0.0:0.0:0.7355:0.2644	.	226	P21728	DRD1_HUMAN	W	226	ENSP00000377353:R226W	ENSP00000327652:R226W	R	-	1	2	2	DRD1	174802033	174802033	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.298000	0.43602	2.688000	0.91661	0.650000	0.86243	CGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-3.231196	1	0.170000	NM_000794			113	112		557	549	1		1			0	0	112	0		1	0	0	0	0	0	0	113	557
DRD1	1812	broad.mit.edu	37	5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	58					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGTTGGTCACCTTGGACCG	0.587																																						ENST00000393752.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(172-174)gTg>gCg		dopamine receptor D1	Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)						98.0	80.0	86.0					5																	174869930		2203	4300	6503	SO:0001583	missense	1812	0	0					g.chr5:174869930A>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.173T>C	chr5.hg19:g.174869930A>G	ENSP00000377353:p.Val58Ala	1						p.V58A	NM_000794.3	NP_000785.1	1	3	4	2.206214	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	2	1165	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	1	1	hg19	c.173T>C	CCDS4393.1	1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673422	0.67928	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.37584	1.19	5.66	5.66	0.87406	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.79343	2.45	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.66015	-0.6028	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	58	P21728	DRD1_HUMAN	A	58	ENSP00000377353:V58A	ENSP00000327652:V58A	V	-	2	0	0	DRD1	174802536	174802536	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.157000	0.94714	2.285000	0.76669	0.533000	0.62120	GTG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_000794			88	87		221	214	1		1			0	0	62	0		1	0	0	0	0	0	0	88	221
SFXN1	94081	broad.mit.edu	37	5	174919199	174919199	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	31					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403																																						ENST00000321442.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(91-93)gtA>gtC		sideroflexin 1							114.0	100.0	105.0					5																	174919199		2203	4300	6503	SO:0001819	synonymous_variant	94081	0	0					g.chr5:174919199A>C	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.93A>C	chr5.hg19:g.174919199A>C		1					SFXN1_ENST00000502393.1_Silent_p.V31V	p.V31V	NM_022754.5	NP_073591.2	1	3	4	2.206214	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	2	347	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	1	1	hg19	c.93A>C	CCDS4394.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_022754			66	65		221	219	1		1	1		0	0	49	0		1	1	0	30	0	58	0	66	221
SFXN1	94081	broad.mit.edu	37	5	174937166	174937166	+	Silent	SNP	C	C	T	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	130					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502																																						ENST00000321442.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(388-390)gtC>gtT		sideroflexin 1		C		1,4405	2.1+/-5.4	0,1,2202	162.0	121.0	135.0		390	-1.5	0.3	5	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	SFXN1	NM_022754.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		130/323	174937166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94081	1	121412	36				g.chr5:174937166C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.390C>T	chr5.hg19:g.174937166C>T		1					SFXN1_ENST00000502393.1_Silent_p.V130V	p.V130V	NM_022754.5	NP_073591.2	1	3	4	2.206214	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	4	644	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	1	1	hg19	c.390C>T	CCDS4394.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_022754			30	30		81	79	1		1	1		0	0	33	0		1	1	0	26	0	85	0	30	81
SFXN1	94081	broad.mit.edu	37	5	174940559	174940559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	230					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532																																						ENST00000321442.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(688-690)gtC>gtT		sideroflexin 1							106.0	95.0	99.0					5																	174940559		2203	4300	6503	SO:0001819	synonymous_variant	94081	0	0					g.chr5:174940559C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.690C>T	chr5.hg19:g.174940559C>T		1						p.V230V	NM_022754.5	NP_073591.2	1	3	4	2.206214	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	7	944	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	1	1	hg19	c.690C>T	CCDS4394.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-6.362308	1	0.170000	NM_022754			90	89		238	231	1		1	1		0	0	51	0		1	1	0	30	0	75	0	90	238
SFXN1	94081	broad.mit.edu	37	5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	232					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522																																						ENST00000321442.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(694-696)tCc>tTc		sideroflexin 1							102.0	92.0	96.0					5																	174940564		2203	4300	6503	SO:0001583	missense	94081	0	0					g.chr5:174940564C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.695C>T	chr5.hg19:g.174940564C>T	ENSP00000316905:p.Ser232Phe	1						p.S232F	NM_022754.5	NP_073591.2	1	3	4	2.206214	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	7	949	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	1	1	hg19	c.695C>T	CCDS4394.1	1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638720	0.67130	.	.	ENSG00000164466	ENST00000321442	T	0.45668	0.89	4.95	4.95	0.65309	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82045	-0.0652	10	0.87932	D	0	-34.1264	17.5333	0.87820	0.0:1.0:0.0:0.0	.	232	Q9H9B4	SFXN1_HUMAN	F	232	ENSP00000316905:S232F	ENSP00000316905:S232F	S	+	2	0	0	SFXN1	174873170	174873170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	TCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_022754			51	49		270	265	1		1	1		0	0	51	0		1	9.999976e-01	0	16	0	88	0	51	270
HRH2	3274	broad.mit.edu	37	5	175110665	175110665	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110665G>T	ENST00000231683.2	+	1	2202	c.429G>T	c.(427-429)tgG>tgT	p.W143C	HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	143					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTTAATTTGGGTCATCTCCA	0.552																																						ENST00000231683.2	1.000000	0.160000	1	2.400000e-01	0.370000	0.483174	0.370000	0.310000																										0				22						c.(427-429)tgG>tgT		histamine receptor H2	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)						143.0	114.0	124.0					5																	175110665		2203	4300	6503	SO:0001583	missense	3274	0	0					g.chr5:175110665G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.429G>T	chr5.hg19:g.175110665G>T	ENSP00000231683:p.Trp143Cys	1					HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	p.W143C	NM_022304.2	NP_071640.1	1	3	4	2.206214	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	1	2202	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	0	1	hg19	c.429G>T	CCDS4395.1	0	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765882	0.69878	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.88818	-2.43;-2.43	5.27	4.41	0.53225	5.27	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97572	1.0105	10	0.87932	D	0	.	13.0723	0.59068	0.0775:0.0:0.9225:0.0	.	143;143	P25021;Q7Z5R9	HRH2_HUMAN;.	C	143	ENSP00000366506:W143C;ENSP00000231683:W143C	ENSP00000231683:W143C	W	+	3	0	0	HRH2	175043271	175043271	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	1.235000	0.43724	0.462000	0.41574	TGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.245632	1	0.170000				8	8		326	319	0		1	0		0	0	52	0		9.886437e-01	0	0	0	0	1	0	8	326
HRH2	3274	broad.mit.edu	37	5	175110875	175110875	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	213					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGGATCAGGCCAAGAGGATCA	0.572																																						ENST00000231683.2	1.000000	0.700000	1	8.500000e-01	0.990000	0.945567	0.990000	1.000000																										0				22						c.(637-639)gcC>gcA		histamine receptor H2	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)						78.0	73.0	75.0					5																	175110875		2203	4300	6503	SO:0001819	synonymous_variant	3274	0	0					g.chr5:175110875C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.639C>A	chr5.hg19:g.175110875C>A		1					HRH2_ENST00000377291.2_Silent_p.A213A	p.A213A	NM_022304.2	NP_071640.1	1	3	4	2.206214	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	1	2412	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	1	1	hg19	c.639C>A	CCDS4395.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1	1	0	1		2	2	2	0		0	0	82		82	79	1	2.060000	-20.000000	1	0.170000				35	34		438	425	0		1	0		0	0	82	0		1	1.197519e-01	0	0	0	8	0	35	438
KIAA1191	57179	broad.mit.edu	37	5	175774795	175774795	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175774795C>A	ENST00000298569.4	-	9	1259	c.726G>T	c.(724-726)caG>caT	p.Q242H	RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	242						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.101)		CTCGGTAGGCCTGGGTGGCAA	0.512																																						ENST00000298569.4	1.000000	0.180000	1	2.500000e-01	0.350000	0.474175	0.350000	0.310000																										0				6						c.(724-726)caG>caT		KIAA1191							60.0	64.0	63.0					5																	175774795		2203	4300	6503	SO:0001583	missense	57179	0	0					g.chr5:175774795C>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.726G>T	chr5.hg19:g.175774795C>A	ENSP00000298569:p.Gln242His	1					KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H|KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H	p.Q242H	NM_020444.3	NP_065177.2	1	3	4	2.206214	Q96A73	P33MX_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1259	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	0	1	hg19	c.726G>T	CCDS4399.1	0	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491684	0.64074	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.1	3.32	0.38043	5.1	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.75833	-0.3178	9	0.87932	D	0	-15.3368	10.9192	0.47154	0.0:0.7879:0.0:0.2121	.	242	Q96A73	K1191_HUMAN	H	242;223;242	.	ENSP00000298569:Q242H	Q	-	3	2	2	KIAA1191	175707401	175707401	0.994000	0.37717	0.997000	0.53966	0.835000	0.47333	2.837000	0.48191	0.657000	0.30906	-0.150000	0.13652	CAG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-11.098490	1	0.170000	NM_020444			13	12		527	513	0		1	1		0	0	90	0		9.994479e-01	9.995783e-01	0	12	0	536	0	13	527
ARL10	285598	broad.mit.edu	37	5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	rs148633924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.001					ENST00000310389.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(598-600)cGg>cAg		ADP-ribosylation factor-like 10		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	105.0	103.0		599	-1.5	1.0	5	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ARL10	NM_173664.4	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	200/245	175798762	5,13001	2203	4300	6503	SO:0001583	missense	285598	13	121412	45				g.chr5:175798762G>A	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.599G>A	chr5.hg19:g.175798762G>A	ENSP00000308496:p.Arg200Gln	1						p.R200Q	NM_173664.4	NP_775935.1	1	3	4	2.206214	Q8N8L6	ARL10_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	4	695	+	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)		Missense_Mutation	SNP	ENST00000310389.5	1	1	hg19	c.599G>A	CCDS4400.1	1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570061	0.28003	2.27E-4	4.65E-4	ENSG00000175414	ENST00000310389	T	0.62639	0.01	5.39	-1.55	0.08558	5.39	-1.55	0.08558	.	4.336230	0.00664	N	0.000603	T	0.36963	0.0986	N	0.04768	-0.165	0.21782	N	0.999548	B	0.16396	0.017	B	0.09377	0.004	T	0.44081	-0.9351	10	0.02654	T	1	-5.0117	9.7024	0.40196	0.6775:0.0:0.3225:0.0	.	200	Q8N8L6	ARL10_HUMAN	Q	200	ENSP00000308496:R200Q	ENSP00000308496:R200Q	R	+	2	0	0	ARL10	175731368	175731368	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	0.716000	0.25836	-0.310000	0.08766	-1.202000	0.01658	CGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	0	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-7.878338	1	0.170000	NM_173664			166	162		435	423	1		1	1		0	0	106	0		1	8.082044e-01	0	2	0	8	0	166	435
CLTB	1212	broad.mit.edu	37	5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	2					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746																																						ENST00000310418.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(4-6)Gct>Act		clathrin, light chain B							14.0	19.0	17.0					5																	175843361		2076	4132	6208	SO:0001583	missense	1212	0	0					g.chr5:175843361C>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.4G>A	chr5.hg19:g.175843361C>T	ENSP00000309415:p.Ala2Thr	1					CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	p.A2T	NM_007097.3	NP_009028.1	1	3	4	2.206214	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	1	209	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	1	1	hg19	c.4G>A	CCDS4403.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888267	0.52014	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	2.27	0.28462	4.1	2.27	0.28462	.	0.079352	0.48767	D	0.000176	T	0.49847	0.1581	L	0.51422	1.61	0.38125	D	0.93797	B;B	0.23442	0.069;0.085	B;B	0.28011	0.051;0.085	T	0.51325	-0.8720	9	0.87932	D	0	.	8.5743	0.33590	0.3101:0.54:0.15:0.0	.	2;2	P09497-2;P09497	.;CLCB_HUMAN	T	2	.	ENSP00000309415:A2T	A	-	1	0	0	CLTB	175775967	175775967	1.000000	0.71417	0.863000	0.33907	0.426000	0.31534	2.189000	0.42621	0.363000	0.24346	0.462000	0.41574	GCT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				62	59		204	199	0		1	1		0	0	38	0		1	1	0	37	0	58	0	62	204
FAF2	23197	broad.mit.edu	37	5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	72					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458																																						ENST00000261942.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(214-216)Aat>Gat		Fas associated factor family member 2							142.0	119.0	127.0					5																	175913437		2203	4300	6503	SO:0001583	missense	23197	0	0					g.chr5:175913437A>G	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.214A>G	chr5.hg19:g.175913437A>G	ENSP00000261942:p.Asn72Asp	1					FAF2_ENST00000510446.1_3'UTR	p.N72D	NM_014613.2	NP_055428.1	1	3	4	2.206214	Q96CS3	FAF2_HUMAN		3	267	+			O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	1	1	hg19	c.214A>G	CCDS34296.1	1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489276	0.64074	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	8	.	.	.	-19.0218	16.6127	0.84892	1.0:0.0:0.0:0.0	.	72	Q96CS3	FAF2_HUMAN	D	72	.	.	N	+	1	0	0	FAF2	175846043	175846043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.809000	0.91944	2.322000	0.78497	0.528000	0.53228	AAT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_014613			70	67		380	375	1		1	1		0	0	74	0		1	9.999992e-01	0	33	0	78	0	70	380
FAF2	23197	broad.mit.edu	37	5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	166					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403																																						ENST00000261942.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(496-498)gCc>gAc		Fas associated factor family member 2							146.0	138.0	141.0					5																	175921013		2203	4300	6503	SO:0001583	missense	23197	0	0					g.chr5:175921013C>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.497C>A	chr5.hg19:g.175921013C>A	ENSP00000261942:p.Ala166Asp	1						p.A166D	NM_014613.2	NP_055428.1	1	3	4	2.206214	Q96CS3	FAF2_HUMAN		6	550	+			O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	1	1	hg19	c.497C>A	CCDS34296.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043875	0.93685	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.71934	-0.61	5.5	5.5	0.81552	5.5	5.5	0.81552	UAS (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	10	0.87932	D	0	-13.0592	19.7671	0.96349	0.0:1.0:0.0:0.0	.	166	Q96CS3	FAF2_HUMAN	D	166	ENSP00000261942:A166D	ENSP00000261942:A166D	A	+	2	0	0	FAF2	175853619	175853619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.414000	0.80117	2.751000	0.94390	0.650000	0.86243	GCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_014613			162	158		366	361	1		1	1		0	0	96	0		1	1	0	47	0	69	0	162	366
CDHR2	54825	broad.mit.edu	37	5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647																																						ENST00000510636.1	1.000000	0.450000	1	7.000000e-01	0.990000	0.891258	0.990000	1.000000																										0				56						c.(1234-1236)Gat>Aat		cadherin-related family member 2							24.0	28.0	27.0					5																	176004439		2203	4300	6503	SO:0001583	missense	54825	8	121264	38				g.chr5:176004439G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1234G>A	chr5.hg19:g.176004439G>A	ENSP00000424565:p.Asp412Asn	1					CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	p.D412N	NM_001171976.1	NP_001165447.1	1	3	4	2.206214	Q9BYE9	CDHR2_HUMAN		13	1508	+			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	0	1	hg19	c.1234G>A	CCDS34297.1	1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202505	0.38905	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.16	3.28	0.37604	4.16	3.28	0.37604	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	L	0.37750	1.13	0.09310	N	0.999999	D	0.53745	0.962	B	0.41510	0.359	T	0.18178	-1.0345	9	0.31617	T	0.26	-10.8328	8.1509	0.31141	0.2085:0.0:0.7914:0.0	.	412	Q9BYE9	CDHR2_HUMAN	N	412	ENSP00000424565:D412N;ENSP00000261944:D412N;ENSP00000421078:D412N	ENSP00000261944:D412N	D	+	1	0	0	CDHR2	175937045	175937045	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.006000	0.13152	1.094000	0.41399	0.448000	0.29417	GAT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-5.146843	1	0.170000	NM_017675			7	7		94	93	0		1	0		0	0	10	0		9.811946e-01	4.284231e-01	0	1	0	18	0	7	94
CDHR2	54825	broad.mit.edu	37	5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652																																						ENST00000510636.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1261-1263)gaG>gaT		cadherin-related family member 2							29.0	33.0	32.0					5																	176004468		2201	4300	6501	SO:0001583	missense	54825	0	0					g.chr5:176004468G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1263G>T	chr5.hg19:g.176004468G>T	ENSP00000424565:p.Glu421Asp	1					CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	p.E421D	NM_001171976.1	NP_001165447.1	1	3	4	2.206214	Q9BYE9	CDHR2_HUMAN		13	1537	+			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	1	1	hg19	c.1263G>T	CCDS34297.1	1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570842	0.13623	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	4.54	0.779	0.18550	4.54	0.779	0.18550	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22312	-1.0220	9	0.15499	T	0.54	-7.7342	9.2184	0.37362	0.3972:0.0:0.6028:0.0	.	421	Q9BYE9	CDHR2_HUMAN	D	421	ENSP00000424565:E421D;ENSP00000261944:E421D;ENSP00000421078:E421D	ENSP00000261944:E421D	E	+	3	2	2	CDHR2	175937074	175937074	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	1.911000	0.39937	0.273000	0.22049	-0.404000	0.06349	GAG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_017675			32	32		83	81	1		1	1		0	0	11	0		1	9.720110e-01	0	4	0	14	0	32	83
CDHR2	54825	broad.mit.edu	37	5	176005098	176005098	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637																																						ENST00000510636.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.e15+2		cadherin-related family member 2							34.0	36.0	35.0					5																	176005098		2203	4300	6503	SO:0001630	splice_region_variant	54825	0	0					g.chr5:176005098T>C	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1574+2T>C	chr5.hg19:g.176005098T>C		1					CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site		NM_001171976.1	NP_001165447.1	1	3	4	2.206214	Q9BYE9	CDHR2_HUMAN		15	1848	+			A1L3U4|A6NC80|Q9NXP8	Splice_Site	SNP	ENST00000510636.1	1	1	hg19		CCDS34297.1	1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881532	0.72294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.72	4.72	0.59763	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CDHR2	175937704	175937704	1.000000	0.71417	0.985000	0.45067	0.849000	0.48306	5.592000	0.67543	1.993000	0.58246	0.448000	0.29417	.	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_017675	Intron		36	35		119	116	1		1			0	0	19	0		1	0	0	0	0	0	0	36	119
CDHR2	54825	broad.mit.edu	37	5	176016537	176016537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1042	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652																																						ENST00000510636.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3124-3126)acC>acT		cadherin-related family member 2							52.0	54.0	53.0					5																	176016537		2203	4300	6503	SO:0001819	synonymous_variant	54825	1	121412	33				g.chr5:176016537C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3126C>T	chr5.hg19:g.176016537C>T		1					CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	p.T1042T	NM_001171976.1	NP_001165447.1	1	3	4	2.206214	Q9BYE9	CDHR2_HUMAN		24	3400	+			A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	1	1	hg19	c.3126C>T	CCDS34297.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.087600	1	0.170000	NM_017675			55	53		292	284	1		1	1		0	0	60	0		1	9.818380e-01	0	24	0	11	0	55	292
CDHR2	54825	broad.mit.edu	37	5	176019739	176019739	+	Silent	SNP	C	C	T	rs139924459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176019739C>T	ENST00000510636.1	+	31	4024	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1250					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTCCCTGGACGACAACTCTG	0.547																																						ENST00000510636.1	1.000000	0.140000	1	2.200000e-01	0.340000	0.461333	0.340000	0.300000																										0				56						c.(3748-3750)gaC>gaT		cadherin-related family member 2			,	3,4403	6.2+/-15.9	0,3,2200	171.0	134.0	147.0		3750,3750	0.2	0.9	5	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	1250/1311,1250/1311	176019739	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54825	11	121412	43				g.chr5:176019739C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3750C>T	chr5.hg19:g.176019739C>T		1					CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	p.D1250D	NM_001171976.1	NP_001165447.1	1	3	4	2.206214	Q9BYE9	CDHR2_HUMAN		31	4024	+			A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	0	1	hg19	c.3750C>T	CCDS34297.1	0																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.338283	1	0.170000	NM_017675			8	8		355	343	0		1	1		0	0	73	0		9.880280e-01	2.769317e-01	0	3	0	39	0	8	355
SNCB	6620	broad.mit.edu	37	5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	69					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582																																						ENST00000310112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(205-207)gCt>gTt		synuclein, beta							130.0	103.0	112.0					5																	176053475		2203	4300	6503	SO:0001583	missense	6620	0	0					g.chr5:176053475G>A	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.206C>T	chr5.hg19:g.176053475G>A	ENSP00000308057:p.Ala69Val	1					MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V	p.A69V	NM_001001502.1	NP_001001502.1	1	3	4	2.206214	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	456	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	1	1	hg19	c.206C>T	CCDS4406.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676133	0.88445	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.36	4.36	0.52297	4.36	4.36	0.52297	.	0.099316	0.42172	D	0.000758	D	0.91219	0.7233	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	D	0.92262	0.5818	10	0.72032	D	0.01	-8.5917	17.4511	0.87592	0.0:0.0:1.0:0.0	.	69	Q16143	SYUB_HUMAN	V	69	ENSP00000308057:A69V;ENSP00000377296:A69V;ENSP00000424073:A69V;ENSP00000422223:A69V	ENSP00000308057:A69V	A	-	2	0	0	SNCB	175986081	175986081	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	5.539000	0.67199	2.434000	0.82447	0.462000	0.41574	GCT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_001001502			72	71		319	297	1		1	0		0	0	69	0		1	3.471053e-02	0	0	0	2	0	72	319
TSPAN17	26262	broad.mit.edu	37	5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000503045.1	+	6	602	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I			Q96FV3	TSN17_HUMAN	tetraspanin 17	206					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607																																						ENST00000503045.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(547-549)Gtc>Atc		tetraspanin 17		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89.0	72.0	78.0		616,616,616	1.3	0.1	5	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign	206/264,206/333,206/330	176083112	4,13002	2203	4300	6503	SO:0001583	missense	26262	5	121412	38				g.chr5:176083112G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.547G>A	chr5.hg19:g.176083112G>A	ENSP00000425212:p.Val183Ile	1					TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I	p.V183I			1	3	4	2.206214	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	602	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	1	1	hg19	c.547G>A		1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376203	0.24857	4.54E-4	2.33E-4	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000298564;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T;T	0.79653	-1.2;-1.2;-1.29;-1.25;-1.25;-1.2;-1.25	5.07	1.26	0.21427	5.07	1.26	0.21427	Tetraspanin, EC2 domain (1);	0.130386	0.50627	N	0.000102	T	0.69646	0.3134	L	0.44542	1.39	0.37742	D	0.925641	B;B;B;B;B	0.29805	0.257;0.003;0.048;0.025;0.037	B;B;B;B;B	0.27262	0.078;0.003;0.032;0.025;0.013	T	0.62181	-0.6908	10	0.42905	T	0.14	-0.7924	8.5656	0.33538	0.3323:0.0:0.6677:0.0	.	206;206;206;206;98	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3;Q96FV3-2	.;.;.;TSN17_HUMAN;.	I	206;206;98;206;194;183;206	ENSP00000309036:V206I;ENSP00000385665:V206I;ENSP00000298564:V98I;ENSP00000422053:V206I;ENSP00000423957:V194I;ENSP00000425212:V183I;ENSP00000426650:V206I	ENSP00000298564:V98I	V	+	1	0	0	TSPAN17	176015718	176015718	0.878000	0.30173	0.067000	0.19924	0.654000	0.38779	1.159000	0.31749	-0.059000	0.13154	0.561000	0.74099	GTC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000				92	91		253	244	1		1	1		0	0	79	0		1	1	0	64	0	105	0	92	253
UNC5A	90249	broad.mit.edu	37	5	176304689	176304689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	540	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			AGCAGTCGTGCGAGGGCAGCT	0.672																																						ENST00000329542.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1618-1620)tgC>tgT		unc-5 homolog A (C. elegans)							24.0	23.0	23.0					5																	176304689		2203	4297	6500	SO:0001819	synonymous_variant	90249	1	121230	20				g.chr5:176304689C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1620C>T	chr5.hg19:g.176304689C>T		1					UNC5A_ENST00000261961.3_Silent_p.C500C	p.C540C	NM_133369.2	NP_588610.2	1	3	4	2.206214	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	10	1894	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	1	1	hg19	c.1620C>T	CCDS34299.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-4.897231	1	0.170000	XM_030300			45	44		129	125	1		1	1		0	0	28	0		1	7.727928e-01	0	4	0	6	0	45	129
UNC5A	90249	broad.mit.edu	37	5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	787	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			ACTCCACCTGGACAGGTGGGC	0.677																																						ENST00000329542.4	1.000000	0.460000	1	5.500000e-01	0.670000	0.724978	0.670000	0.640000																										0				34						c.(2359-2361)Gac>Aac		unc-5 homolog A (C. elegans)							33.0	43.0	40.0					5																	176306485		2202	4295	6497	SO:0001583	missense	90249	0	0					g.chr5:176306485G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2359G>A	chr5.hg19:g.176306485G>A	ENSP00000332737:p.Asp787Asn	1					UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	p.D787N	NM_133369.2	NP_588610.2	1	3	4	2.206214	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	14	2633	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	1	1	hg19	c.2359G>A	CCDS34299.1	0	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407567	0.83340	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86297	-2.1;-2.1	5.06	5.06	0.68205	5.06	5.06	0.68205	Death (2);DEATH-like (2);	0.059778	0.64402	D	0.000003	D	0.86053	0.5841	L	0.45581	1.43	0.51482	D	0.999926	B	0.28350	0.208	B	0.37091	0.241	T	0.83186	-0.0086	10	0.35671	T	0.21	-50.0007	17.1651	0.86814	0.0:0.0:1.0:0.0	.	787	Q6ZN44	UNC5A_HUMAN	N	787;747	ENSP00000332737:D787N;ENSP00000261961:D747N	ENSP00000261961:D747N	D	+	1	0	0	UNC5A	176239091	176239091	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.816000	0.86201	2.630000	0.89119	0.491000	0.48974	GAC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	XM_030300			35	33		684	676	0		1	0		0	0	105	0		1	1.190219e-01	0	0	0	12	0	35	684
HK3	3101	broad.mit.edu	37	5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.|Hexokinase type-2 2.				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)			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)			GACCAGGGCCGCACCTTTGCC	0.662																																						ENST00000292432.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2719-2721)gCg>gTg		hexokinase 3 (white cell)							51.0	50.0	50.0					5																	176308126		2203	4300	6503	SO:0001583	missense	3101	0	0					g.chr5:176308126G>A		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.2720C>T	chr5.hg19:g.176308126G>A	ENSP00000292432:p.Ala907Val	1						p.A907V	NM_002115.2	NP_002106.2	1	3	4	2.206214	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	19	2811	-	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)	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	1	1	hg19	c.2720C>T	CCDS4407.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	0	HK3	176240732	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000				46	44		223	220	1		1	0		0	0	40	0		1	9.998325e-01	0	0	0	66	0	46	223
HK3	3101	broad.mit.edu	37	5	176317669	176317669	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	199	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)			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)			TCAGCAGCTGGACCACATCCT	0.607																																						ENST00000292432.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(595-597)gtC>gtT		hexokinase 3 (white cell)							220.0	210.0	214.0					5																	176317669		2203	4300	6503	SO:0001819	synonymous_variant	3101	0	0					g.chr5:176317669G>A		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.597C>T	chr5.hg19:g.176317669G>A		1						p.V199V	NM_002115.2	NP_002106.2	1	3	4	2.206214	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	688	-	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)	Q8N1E7	Silent	SNP	ENST00000292432.5	1	1	hg19	c.597C>T	CCDS4407.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1		2	2	2	0		0	0	314		314	313	1	2.060000	-20.000000	1	0.170000				233	223		1425	1383	1		1	0		0	0	314	0		1	9.838511e-01	0	0	0	41	0	233	1425
HK3	3101	broad.mit.edu	37	5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A	rs373833147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	90	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)			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)			ACCACGAAGTCTCCTTGCTCT	0.592																																						ENST00000292432.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(268-270)Gac>Tac		hexokinase 3 (white cell)							42.0	45.0	44.0					5																	176318184		2203	4300	6503	SO:0001583	missense	3101	0	0					g.chr5:176318184C>A		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.268G>T	chr5.hg19:g.176318184C>A	ENSP00000292432:p.Asp90Tyr	1						p.D90Y	NM_002115.2	NP_002106.2	1	3	4	2.206214	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	4	359	-	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)	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	1	1	hg19	c.268G>T	CCDS4407.1	1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998600	0.19121	.	.	ENSG00000160883	ENST00000292432	D	0.98617	-5.03	4.96	3.14	0.36123	4.96	3.14	0.36123	Hexokinase, N-terminal (1);	0.207799	0.34046	N	0.004301	D	0.98661	0.9551	M	0.71206	2.165	0.36971	D	0.893828	D	0.89917	1.0	D	0.91635	0.999	D	0.99928	1.1298	10	0.87932	D	0	-27.9387	9.3444	0.38100	0.0:0.7609:0.0:0.2391	.	90	P52790	HXK3_HUMAN	Y	90	ENSP00000292432:D90Y	ENSP00000292432:D90Y	D	-	1	0	0	HK3	176250790	176250790	0.787000	0.28750	0.662000	0.29724	0.329000	0.28539	1.205000	0.32308	1.222000	0.43521	0.561000	0.74099	GAC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000				106	106		284	278	1		1	0		0	0	77	0		1	9.903270e-01	0	0	0	22	0	106	284
ZNF346	23567	broad.mit.edu	37	5	176477887	176477887	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477887T>C	ENST00000358149.3	+	5	696	c.653T>C	c.(652-654)cTa>cCa	p.L218P	ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.L243P|ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	218					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)			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)			AAGCTCAAACTAATGGCACGC	0.552																																						ENST00000358149.3	1.000000	0.170000	1	2.500000e-01	0.370000	0.484062	0.370000	0.310000																										0				14						c.(652-654)cTa>cCa		zinc finger protein 346							100.0	90.0	93.0					5																	176477887		2203	4300	6503	SO:0001583	missense	23567	0	0					g.chr5:176477887T>C	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.653T>C	chr5.hg19:g.176477887T>C	ENSP00000350869:p.Leu218Pro	1					ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.L243P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P	p.L218P	NM_012279.2	NP_036411.1	1	3	4	2.206214	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	696	+	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)	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	1	1	hg19	c.653T>C	CCDS4409.1	0	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282534	0.80692	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	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	0.85130	0.997;0.99;0.994;0.982	T	0.60357	-0.7279	10	0.27082	T	0.32	.	15.0933	0.72215	0.0:0.0:0.0:1.0	.	120;186;243;218	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	P	218;120;186;243;234;243	ENSP00000350869:L218P;ENSP00000423515:L120P;ENSP00000421212:L186P;ENSP00000261948:L243P;ENSP00000425725:L234P;ENSP00000424495:L243P	ENSP00000261948:L243P	L	+	2	0	0	ZNF346	176410493	176410493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.107000	0.77047	1.948000	0.56530	0.533000	0.62120	CTA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	0	0	0		2	2	2	0		0	0	88		88	87	1	2.060000	-9.873548	1	0.170000	NM_012279			10	9		398	394	0		1	1		0	0	88	0		9.967665e-01	2.618071e-01	0	2	0	35	0	10	398
ZNF346	23567	broad.mit.edu	37	5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000358149.3	+	5	701	c.658G>A	c.(658-660)Gca>Aca	p.A220T	ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	220					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)			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)			CAAACTAATGGCACGCTATGG	0.562																																						ENST00000358149.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(658-660)Gca>Aca		zinc finger protein 346							96.0	87.0	90.0					5																	176477892		2203	4300	6503	SO:0001583	missense	23567	0	0					g.chr5:176477892G>A	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.658G>A	chr5.hg19:g.176477892G>A	ENSP00000350869:p.Ala220Thr	1					ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T	p.A220T	NM_012279.2	NP_036411.1	1	3	4	2.206214	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	701	+	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)	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	1	1	hg19	c.658G>A	CCDS4409.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487681	0.64074	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.218203	0.47852	D	0.000208	T	0.36826	0.0981	L	0.27053	0.805	0.38824	D	0.955696	P;P;D;P	0.57571	0.852;0.911;0.98;0.929	B;B;P;B	0.49047	0.351;0.288;0.599;0.316	T	0.15206	-1.0445	10	0.32370	T	0.25	.	12.1606	0.54101	0.0784:0.0:0.9216:0.0	.	122;188;245;220	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	T	220;122;188;245;236;245	ENSP00000350869:A220T;ENSP00000423515:A122T;ENSP00000421212:A188T;ENSP00000261948:A245T;ENSP00000425725:A236T;ENSP00000424495:A245T	ENSP00000261948:A245T	A	+	1	0	0	ZNF346	176410498	176410498	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.441000	0.66569	2.405000	0.81733	0.655000	0.94253	GCA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	1	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_012279			82	80		324	321	1		1	1		0	0	87	0		1	9.974137e-01	0	9	0	29	0	82	324
FGFR4	2264	broad.mit.edu	37	5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	CGTCAAGTTCCGCTGTCCAGC	0.612										TSP Lung(9;0.080)																												ENST00000292408.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(511-513)Cgc>Tgc		fibroblast growth factor receptor 4	Palifermin(DB00039)|Ponatinib(DB08901)	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	73.0	79.0		511,511,511	4.7	1.0	5	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	171/803,171/763,171/803	176518013	1,13005	2203	4300	6503	SO:0001583	missense	2264	1	121412	34				g.chr5:176518013C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.511C>T	chr5.hg19:g.176518013C>T	ENSP00000292408:p.Arg171Cys	1	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C	p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	1	3	4	2.206214	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	756	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	1	1	hg19	c.511C>T	CCDS4410.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632707	0.87660	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.82193	2.58	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	0.85843	0.1399	10	0.66056	D	0.02	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	171;171;171;171;171;171;283	ENSP00000292408:R171C;ENSP00000424905:R171C;ENSP00000377259:R171C;ENSP00000424960:R171C;ENSP00000292410:R171C;ENSP00000377254:R171C	ENSP00000292408:R171C	R	+	1	0	0	FGFR4	176450619	176450619	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.179000	0.50887	2.470000	0.83445	0.561000	0.74099	CGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-8.148112	1	0.170000				71	71		153	150	1		1	1		0	0	54	0		1	1	0	78	0	81	0	71	153
FGFR4	2264	broad.mit.edu	37	5	176522351	176522351	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176522351C>A	ENST00000292408.4	+	12	1785	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	TGACAAGGACCTGGCCGACCT	0.602										TSP Lung(9;0.080)																												ENST00000292408.4	1.000000	0.240000	1	3.400000e-01	0.480000	0.571799	0.480000	0.430000																										0				34						c.(1540-1542)Ctg>Atg		fibroblast growth factor receptor 4	Palifermin(DB00039)|Ponatinib(DB08901)						90.0	88.0	89.0					5																	176522351		2203	4300	6503	SO:0001583	missense	2264	0	0					g.chr5:176522351C>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1540C>A	chr5.hg19:g.176522351C>A	ENSP00000292408:p.Leu514Met	1	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M	p.L514M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	1	3	4	2.206214	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	12	1785	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	0	1	hg19	c.1540C>A	CCDS4410.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.495162|2.495162	0.44352|0.44352	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7;-1.7|.	4.62|4.62	-4.21|-4.21	0.03812|0.03812	4.62|4.62	-4.21|-4.21	0.03812|0.03812	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|.	T|T	0.52948|0.52948	0.1766|0.1766	L|L	0.41710|0.41710	1.295|1.295	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.37606|.	T|.	0.19|.	.|.	14.2483|14.2483	0.66001|0.66001	0.0:0.6208:0.0:0.3792|0.0:0.6208:0.0:0.3792	.|.	446;474;514|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	M|H	514;446;514;474;474;742|145	ENSP00000292408:L514M;ENSP00000377259:L446M;ENSP00000424960:L514M;ENSP00000292410:L474M;ENSP00000377254:L474M|.	ENSP00000292408:L514M|.	L|P	+|+	1|2	2|0	2|0	FGFR4|FGFR4	176454957|176454957	176454957|176454957	0.108000|0.108000	0.22018|0.22018	0.951000|0.951000	0.38953|0.38953	0.442000|0.442000	0.32017|0.32017	-0.007000|-0.007000	0.12810|0.12810	-0.609000|-0.609000	0.05724|0.05724	-0.459000|-0.459000	0.05422|0.05422	CTG|CCT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.318794	1	0.170000				12	10		354	348	0		1	1		0	0	73	0		9.990294e-01	9.571893e-01	0	12	0	148	0	12	354
NSD1	64324	broad.mit.edu	37	5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1085					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)			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)		GCAGAAGATCCTAGTAAAGAG	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q35	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	yes	Sotos Syndrome	L	L	NUP98		AML		0				96						c.(3253-3255)cCt>cAt		nuclear receptor binding SET domain protein 1							117.0	127.0	124.0					5																	176638654		2203	4300	6503	SO:0001583	missense	64324	0	0		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	g.chr5:176638654C>A	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.3254C>A	chr5.hg19:g.176638654C>A	ENSP00000395929:p.Pro1085His	1	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H|NSD1_ENST00000354179.4_Missense_Mutation_p.P816H	p.P1085H	NM_022455.4	NP_071900.2	1	3	4	2.206214	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	5	3299	+	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)	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	1	1	hg19	c.3254C>A	CCDS4412.1	1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913458	0.17907	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.04;-3.04;-3.15	4.35	1.55	0.23275	4.35	1.55	0.23275	.	0.609322	0.14615	N	0.308762	D	0.84275	0.5436	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.69198	-0.5208	9	.	.	.	.	4.1341	0.10162	0.1629:0.5913:0.1574:0.0885	.	816;982;1085	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	816;1085;816;982	ENSP00000346111:P816H;ENSP00000395929:P1085H;ENSP00000343209:P816H;ENSP00000354310:P982H	.	P	+	2	0	0	NSD1	176571260	176571260	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.727000	0.25999	0.205000	0.20568	-0.257000	0.10917	CCT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	1	0	1		2	2	2	0		0	0	109		109	105	1	2.060000	-7.475054	1	0.170000	NM_172349			144	143		386	373	1		1	1		0	0	109	0		1	9.999994e-01	0	25	0	33	0	144	386
NSD1	64324	broad.mit.edu	37	5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1252					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)			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)		AAGGAGCCAGGAATTCCCAGT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2	1.000000	0.610000	1	8.000000e-01	0.990000	0.931044	0.990000	1.000000				Dom	yes			Dom	yes		5	5q35	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	yes	Sotos Syndrome	L	L	NUP98		AML		0				96						c.(3754-3756)gGa>gAa		nuclear receptor binding SET domain protein 1							41.0	44.0	43.0					5																	176639155		2203	4300	6503	SO:0001583	missense	64324	0	0		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	g.chr5:176639155G>A	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.3755G>A	chr5.hg19:g.176639155G>A	ENSP00000395929:p.Gly1252Glu	1	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E|NSD1_ENST00000354179.4_Missense_Mutation_p.G983E	p.G1252E	NM_022455.4	NP_071900.2	1	3	4	2.206214	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	5	3800	+	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)	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	1	1	hg19	c.3755G>A	CCDS4412.1	1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441657	0.63067	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.16;-3.16;-3.16;-3.27	4.68	2.86	0.33363	4.68	2.86	0.33363	.	0.316419	0.22860	N	0.054747	D	0.90393	0.6993	N	0.24115	0.695	0.31661	N	0.645574	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.56343	0.741;0.796;0.555	D	0.87578	0.2482	10	0.39692	T	0.17	.	6.6042	0.22716	0.092:0.0:0.7293:0.1787	.	983;1149;1252	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	983;1252;983;1149	ENSP00000346111:G983E;ENSP00000395929:G1252E;ENSP00000343209:G983E;ENSP00000354310:G1149E	ENSP00000343209:G983E	G	+	2	0	0	NSD1	176571761	176571761	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.821000	0.27338	0.685000	0.31468	0.655000	0.94253	GGA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-19.989720	1	0.170000	NM_172349			17	16		213	208	1		1	1		0	0	59	0		9.999634e-01	9.560194e-01	0	7	0	61	0	17	213
NSD1	64324	broad.mit.edu	37	5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	rs142579918	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049). {ECO:0000305}.	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)			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)		CCTGGTGAAGCAGGCGAAGCA	0.607			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q35	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	yes	Sotos Syndrome	L	L	NUP98		AML		0				96						c.(7735-7737)Cag>Tag		nuclear receptor binding SET domain protein 1							36.0	36.0	36.0					5																	176722104		2203	4300	6503	SO:0001587	stop_gained	64324	0	0		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	g.chr5:176722104C>T	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.7735C>T	chr5.hg19:g.176722104C>T	ENSP00000395929:p.Gln2579*	1	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*	p.Q2579*	NM_022455.4	NP_071900.2	1	3	4	2.206214	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	23	7780	+	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)	Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	0	1	hg19	c.7735C>T	CCDS4412.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.414138	0.99164	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	3.1	3.1	0.35709	3.1	3.1	0.35709	.	0.288101	0.25250	N	0.032027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.6065	0.62050	0.0:1.0:0.0:0.0	.	.	.	.	X	2310;2579;2310;2476	.	ENSP00000343209:Q2310X	Q	+	1	0	0	NSD1	176654710	176654710	0.681000	0.27614	1.000000	0.80357	0.231000	0.25187	1.008000	0.29872	2.070000	0.61991	0.462000	0.41574	CAG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	0	1		20	7	2	1		1	1	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_172349			81	80		245	239	1		1	1		1	0	51	0		1	9.998771e-01	0	31	0	52	0	81	245
RAB24	53917	broad.mit.edu	37	5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303251.6	-	3	654	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|PRELID1_ENST00000303204.4_5'Flank|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.R50W	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	79					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-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)			TTGGCACCCCGATAGTAGATT	0.562																																						ENST00000303251.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(235-237)Cgg>Tgg		RAB24, member RAS oncogene family							105.0	99.0	101.0					5																	176729783		2203	4300	6503	SO:0001583	missense	53917	0	0					g.chr5:176729783G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.235C>T	chr5.hg19:g.176729783G>A	ENSP00000304376:p.Arg79Trp	1					PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303270.6_Missense_Mutation_p.R50W|PRELID1_ENST00000303204.4_5'Flank	p.R79W	NM_001031677.2	NP_001026847.1	1	3	4	2.206214	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	654	-	all_cancers(89;2.49e-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)	Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	1	1	hg19	c.235C>T	CCDS34300.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168804	0.78339	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.73047	-0.71;-0.71;-0.71	5.49	3.63	0.41609	5.49	3.63	0.41609	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.88855	0.6550	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91429	0.5164	10	0.87932	D	0	-0.5622	14.0463	0.64706	0.0:0.0:0.7244:0.2755	.	79;50	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	79;79;50	ENSP00000377235:R79W;ENSP00000304376:R79W;ENSP00000302085:R50W	ENSP00000304376:R79W	R	-	1	2	2	RAB24	176662389	176662389	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.973000	0.49264	0.617000	0.30160	0.555000	0.69702	CGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	1	0	1		16	2	2	0		0	1	167		167	159	1	2.060000	-3.090335	1	0.170000	NM_130781			127	123		608	581	1		1	1		0	0	167	0		1	1	0	21	0	163	0	127	608
LMAN2	10960	broad.mit.edu	37	5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000303127.7	-	6	889	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N|LMAN2_ENST00000506310.1_5'Flank	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	229	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)			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)			TCCTCCAGGTCGGTCATCACC	0.662																																						ENST00000303127.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(685-687)Gac>Aac		lectin, mannose-binding 2		C	ASN/ASP	0,4406		0,0,2203	97.0	85.0	89.0		685	5.9	1.0	5	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMAN2	NM_006816.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	229/357	176764242	1,13005	2203	4300	6503	SO:0001583	missense	10960	2	121412	33				g.chr5:176764242C>T	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.685G>A	chr5.hg19:g.176764242C>T	ENSP00000303366:p.Asp229Asn	1					LMAN2_ENST00000506310.1_5'Flank|LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N	p.D229N	NM_006816.2	NP_006807.1	1	3	4	2.206214	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	889	-	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)	Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	1	1	hg19	c.685G>A	CCDS4417.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693763	0.88735	0.0	1.16E-4	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	5.88	0.94601	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096018	0.64402	D	0.000001	T	0.77219	0.4098	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67900	0.897;0.954	T	0.72786	-0.4188	10	0.33940	T	0.23	-19.5083	19.8332	0.96644	0.0:1.0:0.0:0.0	.	229;229	Q12907;D6RBV2	LMAN2_HUMAN;.	N	229;158;229;222;158	ENSP00000303366:D229N;ENSP00000423998:D229N;ENSP00000425229:D222N;ENSP00000427377:D158N	ENSP00000303366:D229N	D	-	1	0	0	LMAN2	176696848	176696848	1.000000	0.71417	0.954000	0.39281	0.368000	0.29767	7.423000	0.80229	2.789000	0.95967	0.655000	0.94253	GAC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_006816			46	44		283	280	1		1	1		0	0	51	0		1	1	0	324	0	1016	0	46	283
LMAN2	10960	broad.mit.edu	37	5	176778195	176778195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000303127.7	-	2	498	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	98	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)			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)			AGATAGAGCCCTCTTTGCTGC	0.607																																						ENST00000303127.7	1.000000	0.980000	1	9.900000e-01	0.990000	0.998656	0.990000	1.000000																										0				16						c.(292-294)gaG>gaA		lectin, mannose-binding 2							132.0	122.0	125.0					5																	176778195		2203	4300	6503	SO:0001819	synonymous_variant	10960	0	0					g.chr5:176778195C>T	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.294G>A	chr5.hg19:g.176778195C>T		1					LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.E98E	p.E98E	NM_006816.2	NP_006807.1	1	3	4	2.206214	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	498	-	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)	Q53HH1	Silent	SNP	ENST00000303127.7	1	1	hg19	c.294G>A	CCDS4417.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	1	0	1		2	2	2	0		0	0	148		148	144	1	2.060000	-3.075755	1	0.170000	NM_006816			77	77		753	735	0		1	1		0	0	148	0		1	1	0	139	0	994	0	77	753
RGS14	10636	broad.mit.edu	37	5	176785034	176785034	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	3					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751																																					NSCLC(47;353 1896 28036)	ENST00000408923.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997224	0.990000	1.000000																										0				12						c.(7-9)ggG>ggT		regulator of G-protein signaling 14							6.0	9.0	8.0					5																	176785034		1816	4007	5823	SO:0001819	synonymous_variant	10636	0	0					g.chr5:176785034G>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.9G>T	chr5.hg19:g.176785034G>T		1						p.G3G	NM_006480.4	NP_006471.2	1	3	4	2.206214	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	1	197	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	1	1	hg19	c.9G>T	CCDS43405.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-18.576550	1	0.170000	NM_006480			10	10		62	62	0		1	0		0	0	18	0		9.975693e-01	2.378378e-02	0	0	0	2	0	10	62
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	C	T	rs186599028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	253					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0				NSCLC(47;353 1896 28036)	ENST00000408923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(757-759)aaC>aaT		regulator of G-protein signaling 14		C		1,4005		0,1,2002	54.0	58.0	57.0		759	0.8	0.0	5		57	0,8332		0,0,4166	no	coding-synonymous	RGS14	NM_006480.4		0,1,6168	TT,TC,CC		0.0,0.025,0.0081		253/567	176795177	1,12337	2003	4166	6169	SO:0001819	synonymous_variant	10636	2	120930	27				g.chr5:176795177C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.759C>T	chr5.hg19:g.176795177C>T		1						p.N253N	NM_006480.4	NP_006471.2	1	3	4	2.206214	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	8	947	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	1	1	hg19	c.759C>T	CCDS43405.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.088	0.384607	0.11524	2.5E-4	0.0	ENSG00000169220	ENST00000511890	.	.	.	3.64	0.788	0.18601	3.64	0.788	0.18601	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.3967	0.02262	0.1395:0.3579:0.1371:0.3656	.	.	.	.	M	123	.	.	T	+	2	0	0	RGS14	176727783	176727783	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.014000	0.13333	-0.050000	0.13356	-0.424000	0.05967	ACG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	0	0	1		18	6	2	1		1	1	66		66	64	1	2.060000	-20.000000	1	0.170000	NM_006480			90	90		262	256	1		1	1		1	0	66	0		1	9.999786e-01	0	45	0	37	0	90	262
SLC34A1	6569	broad.mit.edu	37	5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000324417.5	+	3	318	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	76					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687																																						ENST00000324417.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(226-228)gCc>gTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							29.0	34.0	32.0					5																	176813105		2203	4300	6503	SO:0001583	missense	6569	0	0					g.chr5:176813105C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.227C>T	chr5.hg19:g.176813105C>T	ENSP00000321424:p.Ala76Val	1					SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	p.A76V	NM_003052.4	NP_003043.3	1	3	4	2.206214	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	318	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	1	1	hg19	c.227C>T	CCDS4418.1	1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561095	0.45590	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.49	5.06	4.19	0.49359	5.06	4.19	0.49359	.	0.357702	0.26467	N	0.024205	T	0.31327	0.0793	L	0.27053	0.805	0.23056	N	0.998362	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.39692	T	0.17	-19.1714	7.0723	0.25185	0.0:0.718:0.1893:0.0927	.	76	Q06495	NPT2A_HUMAN	V	76	ENSP00000423022:A76V;ENSP00000321424:A76V	ENSP00000321424:A76V	A	+	2	0	0	SLC34A1	176745711	176745711	0.147000	0.22687	0.999000	0.59377	0.917000	0.54804	-0.007000	0.12810	1.364000	0.46038	0.561000	0.74099	GCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_003052			80	80		209	204	1		1			0	0	38	0		1	0	0	0	0	0	0	80	209
SLC34A1	6569	broad.mit.edu	37	5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000324417.5	+	5	561	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	157					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627																																						ENST00000324417.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(469-471)aCc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							80.0	74.0	76.0					5																	176813505		2203	4300	6503	SO:0001583	missense	6569	0	0					g.chr5:176813505C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.470C>T	chr5.hg19:g.176813505C>T	ENSP00000321424:p.Thr157Ile	1					SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	p.T157I	NM_003052.4	NP_003043.3	1	3	4	2.206214	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	561	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	1	1	hg19	c.470C>T	CCDS4418.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.141158	0.94560	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.94138	-3.36;-3.36	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-28.0744	19.6385	0.95748	0.0:1.0:0.0:0.0	.	157	Q06495	NPT2A_HUMAN	I	157	ENSP00000423022:T157I;ENSP00000321424:T157I	ENSP00000321424:T157I	T	+	2	0	0	SLC34A1	176746111	176746111	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	ACC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_003052			89	88		456	447	1		1			0	0	113	0		1	0	0	0	0	0	0	89	456
SLC34A1	6569	broad.mit.edu	37	5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	318					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557																																						ENST00000324417.5	1.000000	0.480000	1	6.200000e-01	0.820000	0.818648	0.820000	1.000000																										0				24						c.(952-954)Tcc>Ccc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							101.0	89.0	93.0					5																	176820710		2203	4300	6503	SO:0001583	missense	6569	0	0					g.chr5:176820710T>C	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.952T>C	chr5.hg19:g.176820710T>C	ENSP00000321424:p.Ser318Pro	1					SLC34A1_ENST00000513614.1_3'UTR	p.S318P	NM_003052.4	NP_003043.3	1	3	4	2.206214	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1043	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	1	1	hg19	c.952T>C	CCDS4418.1	0	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370791	0.05034	.	.	ENSG00000131183	ENST00000324417	T	0.32988	1.43	5.39	3.42	0.39159	5.39	3.42	0.39159	.	0.942630	0.08896	N	0.877946	T	0.13243	0.0321	N	0.04260	-0.245	0.30022	N	0.814269	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.25751	T	0.34	-27.075	3.302	0.06987	0.0:0.465:0.3367:0.1982	.	318	Q06495	NPT2A_HUMAN	P	318	ENSP00000321424:S318P	ENSP00000321424:S318P	S	+	1	0	0	SLC34A1	176753316	176753316	0.348000	0.24861	0.418000	0.26571	0.016000	0.09150	0.357000	0.20199	0.494000	0.27859	0.379000	0.24179	TCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-5.472885	1	0.170000	NM_003052			18	18		296	284	0		1			0	0	90	0		9.999772e-01	0	0	0	0	0	0	18	296
F12	2161	broad.mit.edu	37	5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	422	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	ACCGTCAGATCCTCGGGTGCG	0.692									Hereditary Angioedema																													ENST00000253496.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1264-1266)Gat>Tat		coagulation factor XII (Hageman factor)	Ethanolamine Oleate(DB06689)						14.0	17.0	16.0					5																	176830605		2189	4278	6467	SO:0001583	missense	2161	0	0		Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	g.chr5:176830605C>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1264G>T	chr5.hg19:g.176830605C>A	ENSP00000253496:p.Asp422Tyr	1					F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	p.D422Y	NM_000505.3	NP_000496.2	1	3	4	2.206214	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	11	1312	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	P78339	Missense_Mutation	SNP	ENST00000253496.3	0	1	hg19	c.1264G>T	CCDS34302.1	1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844716	0.32606	.	.	ENSG00000131187	ENST00000253496	D	0.89810	-2.57	5.58	2.62	0.31277	5.58	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.996761	0.08126	N	0.993933	D	0.82724	0.5099	L	0.35414	1.06	0.80722	D	1	P	0.49253	0.921	B	0.41440	0.357	T	0.78362	-0.2233	10	0.54805	T	0.06	.	6.8453	0.23984	0.0:0.5317:0.3722:0.096	.	422	P00748	FA12_HUMAN	Y	422	ENSP00000253496:D422Y	ENSP00000253496:D422Y	D	-	1	0	0	F12	176763211	176763211	0.426000	0.25506	0.991000	0.47740	0.135000	0.20990	0.288000	0.18939	1.334000	0.45468	0.491000	0.48974	GAT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000				34	34		103	102	1		1	1		0	0	11	0		1	9.999943e-01	0	31	0	32	0	34	103
GRK6	2870	broad.mit.edu	37	5	176859018	176859018	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000355472.5	+	3	339	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000355958.5_Silent_p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	57	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657																																						ENST00000355472.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(169-171)tgC>tgT		G protein-coupled receptor kinase 6							71.0	75.0	74.0					5																	176859018		2203	4299	6502	SO:0001819	synonymous_variant	2870	1	121400	38				g.chr5:176859018C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.171C>T	chr5.hg19:g.176859018C>T		1					GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000355958.5_Silent_p.C57C	p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	1	3	4	2.206214	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	339	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	O60541|Q13652	Silent	SNP	ENST00000355472.5	1	1	hg19	c.171C>T	CCDS34303.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_002082			199	198		632	624	1		1	1		0	0	133	0		1	1	0	38	0	67	0	199	632
GRK6	2870	broad.mit.edu	37	5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000355472.5	+	8	772	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000355958.5_Missense_Mutation_p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602																																						ENST00000355472.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(604-606)Gcc>Acc		G protein-coupled receptor kinase 6							58.0	59.0	59.0					5																	176860543		2203	4300	6503	SO:0001583	missense	2870	0	0					g.chr5:176860543G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.604G>A	chr5.hg19:g.176860543G>A	ENSP00000347655:p.Ala202Thr	1					GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000355958.5_Missense_Mutation_p.A202T	p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	1	3	4	2.206214	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	8	772	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	1	1	hg19	c.604G>A	CCDS34303.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.422879	0.96111	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.24723	3.14;1.84;1.84;1.84;1.84;1.84	5.77	5.77	0.91146	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.992;0.992;0.997	T	0.32719	-0.9896	10	0.87932	D	0	-21.2385	19.9983	0.97395	0.0:0.0:1.0:0.0	.	202;172;202;202	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	170;202;202;202;202;202	ENSP00000421055:A170T;ENSP00000347655:A202T;ENSP00000427581:A202T;ENSP00000377204:A202T;ENSP00000348230:A202T;ENSP00000433511:A202T	ENSP00000347655:A202T	A	+	1	0	0	GRK6	176793149	176793149	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-13.594810	1	0.170000	NM_002082			151	149		307	300	1		1	1		0	0	75	0		1	1	0	47	0	93	0	151	307
GRK6	2870	broad.mit.edu	37	5	176867757	176867757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000355472.5	+	14	1629	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|PRR7-AS1_ENST00000511565.1_RNA|GRK6_ENST00000528793.1_Silent_p.K487K|GRK6_ENST00000355958.5_Silent_p.K487K|PRR7-AS1_ENST00000514846.1_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587																																						ENST00000355472.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1459-1461)aaG>aaA		G protein-coupled receptor kinase 6							98.0	92.0	94.0					5																	176867757		2203	4300	6503	SO:0001819	synonymous_variant	2870	0	0					g.chr5:176867757G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1461G>A	chr5.hg19:g.176867757G>A		1					GRK6_ENST00000528793.1_Silent_p.K487K|PRR7-AS1_ENST00000514846.1_RNA|PRR7-AS1_ENST00000511565.1_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000355958.5_Silent_p.K487K	p.K487K	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	1	3	4	2.206214	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	14	1629	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	O60541|Q13652	Silent	SNP	ENST00000355472.5	1	1	hg19	c.1461G>A	CCDS34303.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1		2	2	2	0		0	0	82		82	79	1	2.060000	-3.689336	1	0.170000	NM_002082			98	97		341	333	1		1	1		0	0	82	0		1	1	0	31	0	71	0	98	341
DBN1	1627	broad.mit.edu	37	5	176885542	176885542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000309007.5	-	12	1512	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000393565.1_Silent_p.V477V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	431					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)			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)			GAGCAGCCAGGACAGCCTGCT	0.647																																						ENST00000309007.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1291-1293)gtC>gtT		drebrin 1							67.0	80.0	76.0					5																	176885542		2203	4300	6503	SO:0001819	synonymous_variant	1627	0	0					g.chr5:176885542G>A		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.1293C>T	chr5.hg19:g.176885542G>A		1					DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000393565.1_Silent_p.V477V|DBN1_ENST00000393563.4_Silent_p.V163V	p.V431V	NM_004395.3	NP_004386	1	3	4	2.206214	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	12	1512	-	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)	A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	1	1	hg19	c.1293C>T	CCDS4420.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_080881			64	64		387	381	1		1	1		0	0	71	0		1	9.999999e-01	0	32	0	114	0	64	387
DBN1	1627	broad.mit.edu	37	5	176886221	176886221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176886221G>A	ENST00000309007.5	-	11	1223	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000292385.5_Missense_Mutation_p.T337M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	335					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)			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)			CGGGCTCCGCGTGGGGATGGG	0.687																																						ENST00000309007.5	1.000000	0.150000	1	2.200000e-01	0.300000	0.435948	0.300000	0.270000																										0				25						c.(1003-1005)aCg>aTg		drebrin 1							68.0	70.0	69.0					5																	176886221		2203	4299	6502	SO:0001583	missense	1627	1	121396	30				g.chr5:176886221G>A		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.1004C>T	chr5.hg19:g.176886221G>A	ENSP00000308532:p.Thr335Met	1					DBN1_ENST00000292385.5_Missense_Mutation_p.T337M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M|DBN1_ENST00000393563.4_Missense_Mutation_p.T67M	p.T335M	NM_004395.3	NP_004386	1	3	4	2.206214	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	11	1223	-	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)	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	0	1	hg19	c.1004C>T	CCDS4420.1	0	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921700	0.33908	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.33438	1.46;1.46;1.42;1.41;1.46	4.58	4.58	0.56647	4.58	4.58	0.56647	.	1.166000	0.06058	N	0.657899	T	0.29882	0.0747	N	0.14661	0.345	0.35351	D	0.787329	D;D;P;D	0.61080	0.988;0.989;0.798;0.981	P;P;B;P	0.50896	0.653;0.628;0.271;0.46	T	0.09487	-1.0672	10	0.36615	T	0.2	-0.4059	11.2259	0.48884	0.0:0.1858:0.8142:0.0	.	285;381;335;337	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	M	335;337;381;67;67	ENSP00000308532:T335M;ENSP00000292385:T337M;ENSP00000377195:T381M;ENSP00000423208:T67M;ENSP00000377193:T67M	ENSP00000292385:T337M	T	-	2	0	0	DBN1	176818827	176818827	0.980000	0.34600	0.939000	0.37840	0.564000	0.35744	1.979000	0.40608	2.260000	0.74910	0.462000	0.41574	ACG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.262864	1	0.170000	NM_080881			14	14		662	642	0		1	1		0	0	101	0		9.996976e-01	9.970103e-01	0	26	0	428	0	14	662
DOK3	79930	broad.mit.edu	37	5	176931297	176931297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	ENST00000357198.4	-	6	1182	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000501403.2_Missense_Mutation_p.G337V	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	393	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			GTGCTCATTGCCTGGGGGCCC	0.697																																						ENST00000357198.4	1.000000	0.380000	1	5.800000e-01	0.890000	0.825710	0.890000	1.000000																										0				13						c.(1177-1179)gGc>gTc		docking protein 3							17.0	19.0	18.0					5																	176931297		2197	4300	6497	SO:0001583	missense	79930	0	0					g.chr5:176931297C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1178G>T	chr5.hg19:g.176931297C>A	ENSP00000349727:p.Gly393Val	1					DOK3_ENST00000501403.2_Missense_Mutation_p.G337V|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|RP11-1334A24.6_ENST00000506025.1_RNA	p.G393V	NM_024872.2	NP_079148.2	1	3	4	2.206214	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)	6	1182	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	0	1	hg19	c.1178G>T	CCDS4426.1	1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.583989	0.00872	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.27557	2.35;1.66	3.85	-7.33	0.01431	3.85	-7.33	0.01431	.	2.907560	0.01601	N	0.022041	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11966	-1.0566	10	0.28530	T	0.3	-7.9429	10.3185	0.43751	0.0:0.346:0.4939:0.1601	.	393	Q7L591	DOK3_HUMAN	V	393;337	ENSP00000349727:G393V;ENSP00000421688:G337V	ENSP00000349727:G393V	G	-	2	0	0	DOK3	176863903	176863903	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.918000	0.04021	-1.744000	0.01338	0.306000	0.20318	GGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-11.550920	1	0.170000	NM_024872			7	7		114	114	0		1	0		0	0	18	0		9.816342e-01	6.085124e-01	0	0	0	33	0	7	114
DDX41	51428	broad.mit.edu	37	5	176940011	176940011	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1		DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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;0.191)			GCTGCACTCACAGGCGGGGGT	0.637																																						ENST00000507955.1	1.000000	0.810000	1	9.200000e-01	0.990000	0.973436	0.990000	1.000000																										0										c.e12+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89.0	97.0	94.0					5																	176940011		2203	4300	6503	SO:0001630	splice_region_variant	51428	0	0					g.chr5:176940011C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1302+1G>A	chr5.hg19:g.176940011C>T		1					DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank		NM_016222.2	NP_057306.2	1	3	4	2.206214	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)	12	1826	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	ENST00000507955.1	1	1	hg19		CCDS4427.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839580	0.71488	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.28	4.41	0.53225	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1173	0.65161	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	.	DDX41	176872617	176872617	1.000000	0.71417	0.896000	0.35187	0.367000	0.29736	5.691000	0.68249	1.455000	0.47813	0.655000	0.94253	.	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	1	0	1		2	2	2	0		0	0	140		140	125	1	2.060000	-16.317270	1	0.170000	NM_016222	Intron		76	75		907	869	0		1	1		0	0	140	0		1	5.252896e-02	0	2	0	3	0	76	907
FAM193B	54540	broad.mit.edu	37	5	176951655	176951655	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000514747.1	-	6	1875	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000329540.5_Silent_p.S235S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	689						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617																																						ENST00000514747.1	1.000000	0.480000	1	6.600000e-01	0.910000	0.858180	0.910000	1.000000																										0				4						c.(1825-1827)tcC>tcT		family with sequence similarity 193, member B							25.0	27.0	26.0					5																	176951655		1943	4142	6085	SO:0001819	synonymous_variant	54540	2	120860	20				g.chr5:176951655G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1827C>T	chr5.hg19:g.176951655G>A		1					FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000329540.5_Silent_p.S235S|FAM193B_ENST00000508298.1_5'Flank	p.S609S	NM_001190946.1	NP_001177875.1	1	3	4	2.206214	Q96PV7	F193B_HUMAN		6	1875	-			E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	1	1	hg19	c.1827C>T	CCDS54954.1	1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224585	0.01530	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-7.75	0.01236	5.75	-7.75	0.01236	.	.	.	.	.	.	.	.	.	.	.	0.36557	D	0.872203	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2505	2.8772	0.05635	0.2684:0.154:0.4011:0.1765	.	.	.	.	X	295	.	.	R	-	1	2	2	FAM193B	176884261	176884261	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-0.160000	0.10041	-1.158000	0.02811	-0.459000	0.05422	CGA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.223962	1	0.170000	NM_019057			13	13		196	194	1		1	1		0	0	47	0		9.995575e-01	8.302269e-01	0	7	0	44	0	13	196
FAM193B	54540	broad.mit.edu	37	5	176959576	176959576	+	Silent	SNP	G	G	A	rs536461643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000514747.1	-	5	1191	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000443375.2_Silent_p.C268C|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	381						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617													G|||	5	0.000998403	0.0	0.0	5008	,	,		19912	0.0		0.0	False		,,,				2504	0.0051					ENST00000514747.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.996298	0.990000	1.000000																										0				4						c.(1141-1143)tgC>tgT		family with sequence similarity 193, member B							20.0	24.0	23.0					5																	176959576		2008	4183	6191	SO:0001819	synonymous_variant	54540	54	120890	42				g.chr5:176959576G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1143C>T	chr5.hg19:g.176959576G>A		1					FAM193B_ENST00000443375.2_Silent_p.C268C|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_5'UTR	p.C381C	NM_001190946.1	NP_001177875.1	1	3	4	2.206214	Q96PV7	F193B_HUMAN		5	1191	-			E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	0	1	hg19	c.1143C>T	CCDS54954.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-15.688200	1	0.170000	NM_019057			8	8		47	46	1		1	0		0	0	12	0		9.905174e-01	9.532020e-01	0	1	0	34	0	8	47
B4GALT7	11285	broad.mit.edu	37	5	177034312	177034312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	141	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	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)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			GGTTCAACCGGGCAGCGCTCA	0.647											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000029410.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(421-423)cgG>cgA		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							60.0	47.0	51.0					5																	177034312		2203	4300	6503	SO:0001819	synonymous_variant	11285	0	0					g.chr5:177034312G>A	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.423G>A	chr5.hg19:g.177034312G>A		1		OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1935		p.R141R	NM_007255.2	NP_009186.1	1	3	4	2.206214	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	534	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	1	1	hg19	c.423G>A	CCDS4429.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_007255			18	18		61	58	1		1	1		0	0	23	0		9.999891e-01	1	0	61	0	97	0	18	61
PROP1	5626	broad.mit.edu	37	5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	204					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627																																						ENST00000308304.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(610-612)gGc>gAc		PROP paired-like homeobox 1							32.0	32.0	32.0					5																	177419780		2203	4296	6499	SO:0001583	missense	5626	0	0					g.chr5:177419780C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.611G>A	chr5.hg19:g.177419780C>T	ENSP00000311290:p.Gly204Asp	1						p.G204D	NM_006261.4	NP_006252	1	3	4	2.206214	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	919	-	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)		Missense_Mutation	SNP	ENST00000308304.2	1	1	hg19	c.611G>A	CCDS4430.1	1	.	.	.	.	.	.	.	.	.	.	.	7.249	0.602783	0.13939	.	.	ENSG00000175325	ENST00000308304	D	0.88975	-2.45	2.22	1.27	0.21489	2.22	1.27	0.21489	.	0.877909	0.09470	N	0.797763	T	0.80281	0.4594	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.67522	-0.5649	10	0.38643	T	0.18	-0.2366	5.7454	0.18118	0.318:0.682:0.0:0.0	.	204	O75360	PROP1_HUMAN	D	204	ENSP00000311290:G204D	ENSP00000311290:G204D	G	-	2	0	0	PROP1	177352386	177352386	0.000000	0.05858	0.386000	0.26170	0.021000	0.10359	-0.868000	0.04236	0.455000	0.26910	0.563000	0.77884	GGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_006261			32	27		75	70	0		1			0	0	22	0		1	0	0	0	0	0	0	32	75
PROP1	5626	broad.mit.edu	37	5	177421242	177421242	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657																																						ENST00000308304.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(205-207)cgG>cgA		PROP paired-like homeobox 1							36.0	39.0	38.0					5																	177421242		2203	4300	6503	SO:0001819	synonymous_variant	5626	0	0					g.chr5:177421242C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.207G>A	chr5.hg19:g.177421242C>T		1						p.R69R	NM_006261.4	NP_006252	1	3	4	2.206214	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	515	-	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)		Silent	SNP	ENST00000308304.2	1	1	hg19	c.207G>A	CCDS4430.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	1	0	1		2	2	2	0		0	0	68		68	66	1	2.060000	-20.000000	1	0.170000	NM_006261			75	75		363	356	0		1			0	0	68	0		1	0	0	0	0	0	0	75	363
N4BP3	23138	broad.mit.edu	37	5	177546611	177546611	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	9						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				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)			GCCCTGCTGGCATTGCCATGG	0.652																																						ENST00000274605.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(25-27)ggC>ggT		NEDD4 binding protein 3							34.0	38.0	37.0					5																	177546611		2203	4300	6503	SO:0001819	synonymous_variant	23138	0	0					g.chr5:177546611C>T	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.27C>T	chr5.hg19:g.177546611C>T		1						p.G9G	NM_015111.1	NP_055926.1	1	3	4	2.206214	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	386	+	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)	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	1	1	hg19	c.27C>T	CCDS34307.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	0	0	1		2	2	2	0		0	0	75		75	72	1	2.060000	-20.000000	1	0.170000	NM_015111			90	86		325	318	1		1	1		0	0	75	0		1	7.236128e-01	0	6	0	5	0	90	325
N4BP3	23138	broad.mit.edu	37	5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	139						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				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)			GTCCCACAAAGGCCAGAAGCT	0.677																																						ENST00000274605.5	1.000000	0.950000	1	9.900000e-01	0.990000	0.996908	0.990000	1.000000																										0				9						c.(415-417)Ggc>Tgc		NEDD4 binding protein 3							36.0	37.0	37.0					5																	177547263		2203	4300	6503	SO:0001583	missense	23138	0	0					g.chr5:177547263G>T	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.415G>T	chr5.hg19:g.177547263G>T	ENSP00000274605:p.Gly139Cys	1						p.G139C	NM_015111.1	NP_055926.1	1	3	4	2.206214	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	774	+	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)	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	1	1	hg19	c.415G>T	CCDS34307.1	1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433364	0.62844	.	.	ENSG00000145911	ENST00000274605	T	0.00545	6.67	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.305258	0.39544	N	0.001337	T	0.01454	0.0047	L	0.43152	1.355	0.41753	D	0.989678	D	0.89917	1.0	D	0.87578	0.998	T	0.73129	-0.4080	10	0.66056	D	0.02	-36.6317	13.9377	0.64034	0.0:0.0:1.0:0.0	.	139	O15049	N4BP3_HUMAN	C	139	ENSP00000274605:G139C	ENSP00000274605:G139C	G	+	1	0	0	N4BP3	177479869	177479869	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.502000	0.60400	2.668000	0.90789	0.655000	0.94253	GGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_015111			28	29		244	240	1		1	0		0	0	31	0		1	2.868812e-01	0	0	0	10	0	28	244
N4BP3	23138	broad.mit.edu	37	5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	201						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				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)			GGTCGCAGTCCTGGTACTGGC	0.677																																						ENST00000274605.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(601-603)cCt>cAt		NEDD4 binding protein 3							52.0	56.0	55.0					5																	177547450		2203	4299	6502	SO:0001583	missense	23138	0	0					g.chr5:177547450C>A	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.602C>A	chr5.hg19:g.177547450C>A	ENSP00000274605:p.Pro201His	1						p.P201H	NM_015111.1	NP_055926.1	1	3	4	2.206214	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	961	+	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)	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	1	1	hg19	c.602C>A	CCDS34307.1	1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018433	0.19355	.	.	ENSG00000145911	ENST00000274605	T	0.52526	0.66	4.12	4.12	0.48240	4.12	4.12	0.48240	.	0.545059	0.20739	N	0.086573	T	0.34366	0.0895	N	0.19112	0.55	0.42593	D	0.993259	B	0.32693	0.38	B	0.37198	0.243	T	0.09509	-1.0671	10	0.15066	T	0.55	-11.2901	14.6728	0.68956	0.0:1.0:0.0:0.0	.	201	O15049	N4BP3_HUMAN	H	201	ENSP00000274605:P201H	ENSP00000274605:P201H	P	+	2	0	0	N4BP3	177480056	177480056	0.006000	0.16342	0.719000	0.30619	0.142000	0.21351	1.188000	0.32102	2.598000	0.87819	0.655000	0.94253	CCT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	0	0	1		20	2	2	1		1	1	105		105	104	1	2.060000	-5.063448	1	0.170000	NM_015111			151	148		484	473	1		1	1		1	0	105	0		1	9.207498e-01	0	11	0	5	0	151	484
RMND5B	64777	broad.mit.edu	37	5	177569660	177569660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			AAGATACGGTGCAGAAACTGG	0.577																																						ENST00000515098.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(214-216)gtG>gtA		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							111.0	108.0	109.0					5																	177569660		2203	4300	6503	SO:0001819	synonymous_variant	64777	0	0					g.chr5:177569660G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.216G>A	chr5.hg19:g.177569660G>A		1					RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V	p.V72V			1	3	4	2.206214	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	567	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	1	1	hg19	c.216G>A	CCDS4431.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-20.000000	1	0.170000	NM_022762			186	182		496	491	1		1	1		0	0	110	0		1	1	0	45	0	62	0	186	496
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					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)			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)		AATCTACTTTCTAGGGGTCCT	0.348																																						ENST00000335815.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1816-1818)taG>taT		zinc finger protein 354A							59.0	62.0	61.0					5																	178139061		2202	4298	6500	SO:0001578	stop_lost	6940	0	0					g.chr5:178139061C>A	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.1818G>T	chr5.hg19:g.178139061C>A		1						p.*606Y	NM_005649.2	NP_005640.2	1	3	4	2.206214	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	2015	-	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)	Q9UNJ8	Nonstop_Mutation	SNP	ENST00000335815.2	0	1	hg19	c.1818G>T	CCDS4438.1	1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.017445	0.00418	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.28	1.24	0.21308	4.28	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6622	0.17674	0.0:0.6309:0.1647:0.2043	.	.	.	.	Y	606	.	.	X	-	3	2	2	ZNF354A	178071667	178071667	.	.	0.380000	0.26093	0.014000	0.08584	.	.	0.542000	0.28846	-0.122000	0.15005	TAG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_005649			59	58		269	268	1		1	1		0	0	54	0		1	9.992978e-01	0	16	0	36	0	59	269
ZNF354A	6940	broad.mit.edu	37	5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	437				F -> Y (in Ref. 1; BAA25182). {ECO:0000305}.	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)			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)		TACAATTATAAAACTTCTCTC	0.363																																						ENST00000335815.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1309-1311)ttT>ttG		zinc finger protein 354A							77.0	82.0	80.0					5																	178139568		2203	4300	6503	SO:0001583	missense	6940	0	0					g.chr5:178139568A>C	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.1311T>G	chr5.hg19:g.178139568A>C	ENSP00000337122:p.Phe437Leu	1						p.F437L	NM_005649.2	NP_005640.2	1	3	4	2.206214	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	1508	-	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)	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	1	1	hg19	c.1311T>G	CCDS4438.1	1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058668	0.36277	.	.	ENSG00000169131	ENST00000335815	T	0.16897	2.31	4.71	-0.432	0.12291	4.71	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257680	0.20616	N	0.088869	T	0.03564	0.0102	N	0.00459	-1.475	0.32908	D	0.514063	B	0.06786	0.001	B	0.06405	0.002	T	0.19451	-1.0305	10	0.42905	T	0.14	-4.5652	5.5901	0.17297	0.3554:0.4687:0.1759:0.0	.	437	O60765	Z354A_HUMAN	L	437	ENSP00000337122:F437L	ENSP00000337122:F437L	F	-	3	2	2	ZNF354A	178072174	178072174	0.001000	0.12720	0.999000	0.59377	0.794000	0.44872	-0.793000	0.04589	0.062000	0.16340	-0.375000	0.07067	TTT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_005649			100	92		462	456	1		1	1		0	0	101	0		1	9.985634e-01	0	7	0	40	0	100	462
ZNF354A	6940	broad.mit.edu	37	5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	rs199561646		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)		ACGCCAGAACCGTCTTTCTCC	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.001		0.0	False		,,,				2504	0.0					ENST00000335815.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(235-237)Ggt>Agt		zinc finger protein 354A							151.0	144.0	147.0					5																	178152398		2203	4300	6503	SO:0001583	missense	6940	4	121412	38				g.chr5:178152398C>T	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.235G>A	chr5.hg19:g.178152398C>T	ENSP00000337122:p.Gly79Ser	1						p.G79S	NM_005649.2	NP_005640.2	1	3	4	2.206214	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	4	432	-	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)	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	1	1	hg19	c.235G>A	CCDS4438.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.542	0.100574	0.08731	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.06449	3.3;6.03	3.25	0.274	0.15654	3.25	0.274	0.15654	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	9	0.10902	T	0.67	-1.4818	7.6338	0.28255	0.0:0.3221:0.0:0.6779	.	79	O60765	Z354A_HUMAN	S	79	ENSP00000337122:G79S;ENSP00000429675:G79S	ENSP00000337122:G79S	G	-	1	0	0	ZNF354A	178085004	178085004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.242000	0.02908	-0.220000	0.09988	-1.347000	0.01240	GGT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	1	0	1		2	2	2	0		0	0	183		183	182	1	2.060000	-2.349740	0	0.170000	NM_005649			141	139		682	672	1		1	1		0	0	183	0		1	9.991743e-01	0	12	0	40	0	141	682
ZNF354B	117608	broad.mit.edu	37	5	178310195	178310195	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(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)			TAAAGAATGTTTAAAAGCTTT	0.343																																						ENST00000322434.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(742-744)Tta>Cta		zinc finger protein 354B							65.0	76.0	72.0					5																	178310195		2202	4292	6494	SO:0001819	synonymous_variant	117608	0	0					g.chr5:178310195T>C	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.742T>C	chr5.hg19:g.178310195T>C		1					RNU1-39P_ENST00000383897.1_RNA	p.L248L	NM_058230.2	NP_478137.1	1	3	4	2.206214	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	968	+	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)	A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	1	1	hg19	c.742T>C	CCDS4439.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_058230			172	166		513	505	0		1	1		0	0	124	0		1	8.419616e-01	0	4	0	8	0	172	513
ZNF354B	117608	broad.mit.edu	37	5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(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)			GAGCGAATTCATACTGGAGAA	0.378																																						ENST00000322434.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1378-1380)cAt>cCt		zinc finger protein 354B							80.0	81.0	80.0					5																	178310832		2203	4300	6503	SO:0001583	missense	117608	0	0					g.chr5:178310832A>C	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.1379A>C	chr5.hg19:g.178310832A>C	ENSP00000327143:p.His460Pro	1					RNU1-39P_ENST00000383897.1_RNA	p.H460P	NM_058230.2	NP_478137.1	1	3	4	2.206214	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	1605	+	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)	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	1	1	hg19	c.1379A>C	CCDS4439.1	1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276777	0.40294	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	2.48	0.30137	3.68	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74997	0.3790	H	0.95079	3.62	0.39204	D	0.963207	B	0.29886	0.26	B	0.34418	0.182	T	0.75434	-0.3319	9	0.87932	D	0	-51.6748	8.1574	0.31178	0.7958:0.2042:0.0:0.0	.	460	Q96LW1	Z354B_HUMAN	P	460	ENSP00000327143:H460P	ENSP00000327143:H460P	H	+	2	0	0	ZNF354B	178243438	178243438	1.000000	0.71417	0.704000	0.30370	0.600000	0.36913	6.232000	0.72313	0.470000	0.27294	0.454000	0.30748	CAT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_058230			116	112		383	371	1		1	1		0	0	87	0		1	9.534309e-01	0	3	0	16	0	116	383
ZFP2	80108	broad.mit.edu	37	5	178358719	178358719	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GTAATGTATGTGGGAAACACT	0.403																																						ENST00000361362.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(403-405)tgT>tgC		ZFP2 zinc finger protein							60.0	64.0	63.0					5																	178358719		2203	4300	6503	SO:0001819	synonymous_variant	80108	0	0					g.chr5:178358719T>C	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.405T>C	chr5.hg19:g.178358719T>C		1					ZFP2_ENST00000503510.2_Silent_p.C135C|ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C	p.C135C	NM_030613.2	NP_085116.2	1	3	4	2.206214	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	935	+	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)	A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	1	1	hg19	c.405T>C	CCDS4440.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_030613			88	87		266	256	1		1	0		0	0	65	0		1	0	0	1	0	0	0	88	266
GRM6	2916	broad.mit.edu	37	5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000517717.1	-	10	2439	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	GRM6_ENST00000231188.5_Missense_Mutation_p.P801T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	801					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		AAGAAGATGGGCACGAATGCC	0.577																																						ENST00000517717.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2401-2403)Ccc>Acc		glutamate receptor, metabotropic 6							103.0	86.0	91.0					5																	178409946		2203	4300	6503	SO:0001583	missense	2916	0	0					g.chr5:178409946G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2401C>A	chr5.hg19:g.178409946G>T	ENSP00000430767:p.Pro801Thr	1					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P801T	p.P801T			1	3	4	2.206214	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	10	2439	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)		Missense_Mutation	SNP	ENST00000517717.1	1	1	hg19	c.2401C>A	CCDS4442.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124804	0.77436	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.90563	-2.69;-2.69	4.79	4.79	0.61399	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96577	0.8883	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97652	1.0155	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.0:1.0:0.0	.	801;95	O15303;Q5HYM4	GRM6_HUMAN;.	T	801	ENSP00000231188:P801T;ENSP00000430767:P801T	ENSP00000231188:P801T	P	-	1	0	0	GRM6	178342552	178342552	1.000000	0.71417	0.990000	0.47175	0.714000	0.41099	9.661000	0.98601	2.387000	0.81309	0.313000	0.20887	CCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				67	66		340	334	1		1			0	0	69	0		1	0	0	0	0	0	0	67	340
GRM6	2916	broad.mit.edu	37	5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000517717.1	-	9	1638	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	GRM6_ENST00000231188.5_Missense_Mutation_p.V534I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	534					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		CAGCAGGGGACGCCCTTCACC	0.682																																						ENST00000517717.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1600-1602)Gtc>Atc		glutamate receptor, metabotropic 6							44.0	38.0	40.0					5																	178413655		2203	4299	6502	SO:0001583	missense	2916	4	121350	35				g.chr5:178413655C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1600G>A	chr5.hg19:g.178413655C>T	ENSP00000430767:p.Val534Ile	1					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V534I	p.V534I			1	3	4	2.206214	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1638	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)		Missense_Mutation	SNP	ENST00000517717.1	1	1	hg19	c.1600G>A	CCDS4442.1	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340760	0.60963	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.63	4.63	0.57726	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.89649	0.6776	N	0.20685	0.6	0.49798	D	0.999821	D;B	0.67145	0.996;0.11	D;B	0.76071	0.987;0.022	D	0.90627	0.4564	9	0.51188	T	0.08	.	15.3541	0.74415	0.0:1.0:0.0:0.0	.	690;534	E7EX65;O15303	.;GRM6_HUMAN	I	690;534;534	ENSP00000231188:V534I;ENSP00000430767:V534I	ENSP00000231188:V534I	V	-	1	0	0	GRM6	178346261	178346261	0.998000	0.40836	0.987000	0.45799	0.878000	0.50629	3.974000	0.56852	2.281000	0.76405	0.462000	0.41574	GTC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000				90	89		287	282	1		1			0	0	55	0		1	0	0	0	0	0	0	90	287
GRM6	2916	broad.mit.edu	37	5	178413731	178413731	+	Silent	SNP	G	G	A	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000517717.1	-	9	1562	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	GRM6_ENST00000231188.5_Silent_p.G508G|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	508					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)	p.G508G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		CGTGGGGGTCGCCAGACCACT	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15902	0.0		0.0	False		,,,				2504	0.0					ENST00000517717.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999615	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G508G(1)	large_intestine(1)	55						c.(1522-1524)ggC>ggT		glutamate receptor, metabotropic 6		G		0,4406		0,0,2203	29.0	32.0	31.0		1524	-4.6	0.0	5	dbSNP_134	31	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	GRM6	NM_000843.3		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		508/878	178413731	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	2916	59	121334	48				g.chr5:178413731G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1524C>T	chr5.hg19:g.178413731G>A		1					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G508G	p.G508G			1	3	4	2.206214	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1562	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)		Silent	SNP	ENST00000517717.1	1	1	hg19	c.1524C>T	CCDS4442.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-7.080919	1	0.170000				34	34		262	253	1		1			0	0	35	0		1	0	0	0	0	0	0	34	262
ZNF354C	30832	broad.mit.edu	37	5	178506423	178506423	+	Silent	SNP	C	C	T	rs373125160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C330C(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)		TCTATAAATGCGGCGAATGTG	0.433																																						ENST00000315475.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C330C(1)	large_intestine(1)	30						c.(988-990)tgC>tgT		zinc finger protein 354C		C		0,4406		0,0,2203	171.0	181.0	178.0		990	0.2	0.2	5		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF354C	NM_014594.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		330/555	178506423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	30832	7	121412	46				g.chr5:178506423C>T		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.990C>T	chr5.hg19:g.178506423C>T		1						p.C330C	NM_014594.1	NP_055409.1	1	3	4	2.206214	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	1296	+	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)	Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	1	1	hg19	c.990C>T	CCDS4443.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2	1	0	0		22	2	2	1		1	2	283		283	281	1	2.060000	-20.000000	1	0.170000				197	191		1064	1047	0		1	0		1	0	283	0		1	5.800021e-01	0	0	0	12	0	197	1064
ADAMTS2	9509	broad.mit.edu	37	5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687																																						ENST00000251582.7	1.000000	0.610000	1	6.900000e-01	0.800000	0.827836	0.800000	0.780000																										0				72						c.(2812-2814)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							106.0	105.0	106.0					5																	178552119		2203	4300	6503	SO:0001583	missense	9509	0	0					g.chr5:178552119C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2813G>A	chr5.hg19:g.178552119C>T	ENSP00000251582:p.Arg938His	1						p.R938H	NM_014244.4	NP_055059.2	1	3	4	2.206214	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	19	2914	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)		Missense_Mutation	SNP	ENST00000251582.7	1	1	hg19	c.2813G>A	CCDS4444.1	0	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000087116	ENST00000251582	T	0.80824	-1.42	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000026	D	0.94578	0.8253	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	938	O95450	ATS2_HUMAN	H	938	ENSP00000251582:R938H	ENSP00000251582:R938H	R	-	2	0	0	ADAMTS2	178484725	178484725	1.000000	0.71417	0.941000	0.38009	0.476000	0.33039	7.551000	0.82182	2.538000	0.85594	0.655000	0.94253	CGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-9.403376	1	0.170000	NM_014244			65	63		1037	1019	0		1	0		0	0	156	0		1	9.990036e-01	0	1	0	159	0	65	1037
ADAMTS2	9509	broad.mit.edu	37	5	178553085	178553085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	888	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657																																						ENST00000251582.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2662-2664)aaG>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 2							83.0	86.0	85.0					5																	178553085		2203	4300	6503	SO:0001819	synonymous_variant	9509	0	0					g.chr5:178553085C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2664G>A	chr5.hg19:g.178553085C>T		1						p.K888K	NM_014244.4	NP_055059.2	1	3	4	2.206214	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	18	2765	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)		Silent	SNP	ENST00000251582.7	1	1	hg19	c.2664G>A	CCDS4444.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_014244			131	131		730	719	1		1	1		0	0	117	0		1	1	0	2	0	312	0	131	730
RUFY1	80230	broad.mit.edu	37	5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000319449.4	+	2	415	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	135					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577										HNSCC(44;0.11)																												ENST00000319449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(403-405)Ggc>Tgc		RUN and FYVE domain containing 1							64.0	54.0	58.0					5																	178987118		2203	4300	6503	SO:0001583	missense	80230	0	0					g.chr5:178987118G>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.403G>T	chr5.hg19:g.178987118G>T	ENSP00000325594:p.Gly135Cys	1	HNSCC(44;0.11)				RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C	p.G135C	NM_025158.4	NP_079434.3	1	3	4	2.206214	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	415	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	1	1	hg19	c.403G>T	CCDS4445.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494453|5.494453	0.96339|0.96339	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047726|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82051|0.82051	-0.0649|-0.0649	10|5	0.87932|.	D|.	0|.	-17.8433|-17.8433	19.5387|19.5387	0.95266|0.95266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q96T51|.	RUFY1_HUMAN|.	C|C	135;135;27;27|92	ENSP00000325594:G135C;ENSP00000366200:G135C;ENSP00000390025:G27C;ENSP00000377087:G27C|.	ENSP00000325594:G135C|.	G|W	+|+	1|3	0|0	0|0	RUFY1|RUFY1	178919724|178919724	178919724|178919724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.699000|9.699000	0.98703|0.98703	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GGC|TGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001040451			37	35		110	108	1		1	1		0	0	26	0		1	1	0	50	0	76	0	37	110
HNRNPH1	3187	broad.mit.edu	37	5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000524180.1_5'Flank			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363																																						ENST00000356731.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1096-1098)gGa>gAa		heterogeneous nuclear ribonucleoprotein H1 (H)							97.0	95.0	96.0					5																	179044072		2203	4300	6503	SO:0001583	missense	3187	0	0					g.chr5:179044072C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1097G>A	chr5.hg19:g.179044072C>T	ENSP00000349168:p.Gly366Glu	1					HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E	p.G366E			1	3	4	2.206214	P31943	HNRH1_HUMAN		9	2632	-			B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	1	1	hg19	c.1097G>A	CCDS4446.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.85|13.85	2.359804|2.359804	0.41801|0.41801	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	.|T;T;T;T;T;T;T	.|0.25414	.|2.86;2.86;2.86;2.82;1.8;1.8;1.8	5.81|5.81	5.81|5.81	0.92471|0.92471	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.99999|0.99999	.|B;B	.|0.24675	.|0.091;0.109	.|B;B	.|0.29077	.|0.073;0.098	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.24483	.|T	.|0.36	-8.856|-8.856	11.3327|11.3327	0.49485|0.49485	0.14:0.7246:0.1354:0.0|0.14:0.7246:0.1354:0.0	.|.	.|366;366	.|E9PCY7;P31943	.|.;HNRH1_HUMAN	K|E	241|366;366;366;366;366;96;122	.|ENSP00000377082:G366E;ENSP00000397797:G366E;ENSP00000349168:G366E;ENSP00000327539:G366E;ENSP00000426275:G366E;ENSP00000444220:G96E;ENSP00000429481:G122E	.|ENSP00000327539:G366E	E|G	-|-	1|2	0|0	0|0	HNRNPH1|HNRNPH1	178976678|178976678	178976678|178976678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.930000|3.930000	0.56522|0.56522	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GAG|GGA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	0	0	1		2	2	2	0		0	0	97		97	91	1	2.060000	-4.811805	1	0.170000	NM_005520			137	134		458	444	1		1	1		0	0	97	0		1	1	0	77	0	234	0	137	458
HNRNPH1	3187	broad.mit.edu	37	5	179044893	179044893	+	Silent	SNP	G	G	A	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y|HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000524180.1_5'Flank			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	276	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACCATCCCCGTATCTGTGAT	0.418													G|||	7	0.00139776	0.0	0.0014	5008	,	,		22274	0.0		0.005	False		,,,				2504	0.001					ENST00000356731.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(826-828)taC>taT		heterogeneous nuclear ribonucleoprotein H1 (H)		G		1,4405	2.1+/-5.4	0,1,2202	141.0	122.0	129.0		828	-8.2	0.5	5	dbSNP_132	129	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	HNRNPH1	NM_005520.2		0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076		276/450	179044893	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	3187	409	121412	58				g.chr5:179044893G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.828C>T	chr5.hg19:g.179044893G>A		1					HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000511300.2_Silent_p.Y6Y	p.Y276Y			1	3	4	2.206214	P31943	HNRH1_HUMAN		7	2363	-			B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	1	0	hg19	c.828C>T	CCDS4446.1	1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	6.690	0.495996	0.12762	2.27E-4	0.003023	ENSG00000169045	ENST00000521173	.	.	.	5.59	-8.16	0.01061	5.59	-8.16	0.01061	.	.	.	.	.	T	0.66799	0.2826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-7.2366	20.0627	0.97684	0.7951:0.0:0.2049:0.0	.	.	.	.	M	151	.	.	T	-	2	0	0	HNRNPH1	178977499	178977499	0.043000	0.20138	0.496000	0.27539	0.971000	0.66376	-0.373000	0.07494	-1.706000	0.01404	-0.237000	0.12165	ACG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	0	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-2.188588	0	0.170000	NM_005520			101	97		271	266	1		1	1		0	0	78	0		1	1	0	112	0	380	0	101	271
MAML1	9794	broad.mit.edu	37	5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											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)			CAACAAAAAGCGTCTGGCTGA	0.557																																						ENST00000292599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(568-570)Cgt>Tgt		mastermind-like 1 (Drosophila)							36.0	39.0	38.0					5																	179192579		2203	4300	6503	SO:0001583	missense	9794	2	121410	32				g.chr5:179192579C>T	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.568C>T	chr5.hg19:g.179192579C>T	ENSP00000292599:p.Arg190Cys	1					MAML1_ENST00000503050.1_3'UTR	p.R190C	NM_014757.4	NP_055572.1	1	3	4	2.206214			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	831	+	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)		Missense_Mutation	SNP	ENST00000292599.3	1	1	hg19	c.568C>T	CCDS34315.1	1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366053	0.11352	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40756	1.02	4.9	-0.496	0.12027	4.9	-0.496	0.12027	.	0.143880	0.49305	N	0.000144	T	0.09818	0.0241	N	0.00521	-1.4	0.30173	N	0.801095	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12344	-1.0551	10	0.35671	T	0.21	-0.4315	2.387	0.04368	0.1236:0.1414:0.1289:0.6062	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	C	190;227	ENSP00000292599:R190C	ENSP00000292599:R190C	R	+	1	0	0	MAML1	179125185	179125185	0.997000	0.39634	0.936000	0.37596	0.499000	0.33736	1.457000	0.35212	-0.326000	0.08564	-0.505000	0.04504	CGT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_014757			68	66		151	148	1		1	1		0	0	42	0		1	9.999999e-01	0	16	0	45	0	68	151
MAML1	9794	broad.mit.edu	37	5	179193073	179193073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											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)			CTGGTCAGCCCCGGGCGGACA	0.622																																						ENST00000292599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1060-1062)ccC>ccA		mastermind-like 1 (Drosophila)							35.0	37.0	36.0					5																	179193073		2203	4300	6503	SO:0001819	synonymous_variant	9794	0	0					g.chr5:179193073C>A	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.1062C>A	chr5.hg19:g.179193073C>A		1					MAML1_ENST00000503050.1_3'UTR	p.P354P	NM_014757.4	NP_055572.1	1	3	4	2.206214			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	1325	+	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)		Silent	SNP	ENST00000292599.3	1	1	hg19	c.1062C>A	CCDS34315.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-3.252166	1	0.170000	NM_014757			66	65		324	314	1		1	1		0	0	59	0		1	9.999971e-01	0	17	0	76	0	66	324
MAML1	9794	broad.mit.edu	37	5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											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)			GCCCAGTCAGGGCCCAGGAGG	0.642																																						ENST00000292599.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				36						c.(1156-1158)Ggc>Agc		mastermind-like 1 (Drosophila)							41.0	45.0	43.0					5																	179193167		2203	4299	6502	SO:0001583	missense	9794	1	121382	27				g.chr5:179193167G>A	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.1156G>A	chr5.hg19:g.179193167G>A	ENSP00000292599:p.Gly386Ser	1					MAML1_ENST00000503050.1_3'UTR	p.G386S	NM_014757.4	NP_055572.1	1	3	4	2.206214			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	1419	+	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)		Missense_Mutation	SNP	ENST00000292599.3	1	1	hg19	c.1156G>A	CCDS34315.1	1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571803	0.45798	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.27402	1.67	4.88	4.01	0.46588	4.88	4.01	0.46588	.	0.078647	0.53938	D	0.000052	T	0.41880	0.1178	M	0.63843	1.955	0.37548	D	0.918591	D;D	0.76494	0.997;0.999	D;D	0.67103	0.949;0.928	T	0.49925	-0.8887	10	0.09084	T	0.74	-19.2223	6.9821	0.24708	0.1549:0.0:0.7039:0.1412	.	423;386	Q59GH4;Q92585	.;MAML1_HUMAN	S	386;423	ENSP00000292599:G386S	ENSP00000292599:G386S	G	+	1	0	0	MAML1	179125773	179125773	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.309000	0.59135	1.047000	0.40274	0.305000	0.20034	GGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	0	0	0		20	4	2	1		1	1	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_014757			58	58		464	458	1		1	1		1	0	87	0		9.999981e-01	8.917748e-01	0	12	0	46	0	58	464
MAML1	9794	broad.mit.edu	37	5	179201461	179201461	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											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)			AAATGTCTAGCCCGCAATTCT	0.612																																						ENST00000292599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2632-2634)agC>agT		mastermind-like 1 (Drosophila)							34.0	37.0	36.0					5																	179201461		2203	4300	6503	SO:0001819	synonymous_variant	9794	0	0					g.chr5:179201461C>T	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.2634C>T	chr5.hg19:g.179201461C>T		1					MAML1_ENST00000503050.1_Intron	p.S878S	NM_014757.4	NP_055572.1	1	3	4	2.206214			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	2897	+	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)		Silent	SNP	ENST00000292599.3	1	1	hg19	c.2634C>T	CCDS34315.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_014757			79	76		218	216	1		1	1		0	0	60	0		1	1	0	24	0	56	0	79	218
MAML1	9794	broad.mit.edu	37	5	179201852	179201852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											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)			GATGAGTGATTTGGACGACCT	0.463																																						ENST00000292599.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3025-3027)Ttg>Ctg		mastermind-like 1 (Drosophila)							122.0	113.0	116.0					5																	179201852		2202	4300	6502	SO:0001819	synonymous_variant	9794	0	0					g.chr5:179201852T>C	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.3025T>C	chr5.hg19:g.179201852T>C		1					MAML1_ENST00000503050.1_Intron	p.L1009L	NM_014757.4	NP_055572.1	1	3	4	2.206214			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	3288	+	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)		Silent	SNP	ENST00000292599.3	1	1	hg19	c.3025T>C	CCDS34315.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_014757			119	117		630	617	0		1	1		0	0	128	0		1	9.994858e-01	0	8	0	52	0	119	630
MGAT4B	11282	broad.mit.edu	37	5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000292591.7	-	7	1077	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	MGAT4B_ENST00000521305.1_5'Flank|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T258A|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	243					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTGGTCCTCCACCTG	0.627																																					GBM(13;414 434 4098 22176 23230)	ENST00000292591.7	1.000000	0.390000	1	4.800000e-01	0.600000	0.664662	0.600000	0.570000																										0				13						c.(727-729)Acc>Gcc		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							101.0	80.0	87.0					5																	179227252		2203	4300	6503	SO:0001583	missense	11282	0	0					g.chr5:179227252T>C	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.727A>G	chr5.hg19:g.179227252T>C	ENSP00000292591:p.Thr243Ala	1					MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T258A|MGAT4B_ENST00000521305.1_5'Flank	p.T243A	NM_014275.4	NP_055090.1	1	3	4	2.206214	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	7	1077	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	1	1	hg19	c.727A>G	CCDS4448.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657724|4.657724	0.88154|0.88154	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000518980;ENST00000520875;ENST00000518867|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	4.92|4.92	4.92|4.92	0.64577|0.64577	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69922|0.69922	0.3165|0.3165	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;B;P	.|0.76494	.|0.997;0.999;0.087;0.928	.|D;D;B;P	.|0.83275	.|0.994;0.996;0.117;0.554	T|T	0.75972|0.75972	-0.3129|-0.3129	5|10	.|0.49607	.|T	.|0.09	-26.3918|-26.3918	14.5904|14.5904	0.68359|0.68359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|243;258;98;243	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	G|A	68;52;41;54|258;243;98	.|ENSP00000338487:T258A;ENSP00000292591:T243A;ENSP00000427995:T98A	.|ENSP00000292591:T243A	D|T	-|-	2|1	0|0	0|0	MGAT4B|MGAT4B	179159858|179159858	179159858|179159858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.003000|8.003000	0.88520|0.88520	1.852000|1.852000	0.53769|0.53769	0.448000|0.448000	0.29417|0.29417	GAC|ACC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_014275			28	26		627	620	0		1	1		0	0	97	0		1	1	0	100	0	1358	0	28	627
SQSTM1	8878	broad.mit.edu	37	5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A	rs202119215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	276	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602																																						ENST00000389805.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SQSTM1/ALK(2)	0				13						c.(826-828)tCc>tAc		sequestosome 1							49.0	52.0	51.0					5																	179260104		2203	4300	6503	SO:0001583	missense	8878	0	0					g.chr5:179260104C>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.827C>A	chr5.hg19:g.179260104C>A	ENSP00000374455:p.Ser276Tyr	1					SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	p.S276Y	NM_003900.4	NP_003891.1	1	3	4	2.206214	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	1005	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	1	1	hg19	c.827C>A	CCDS34317.1	1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486551	0.04352	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;2.36;-1.63	5.0	2.23	0.28157	5.0	2.23	0.28157	.	1.296320	0.04736	N	0.421909	D	0.89911	0.6852	M	0.66939	2.045	0.37016	D	0.895976	P;D	0.65815	0.901;0.995	B;D	0.75484	0.444;0.986	T	0.77752	-0.2470	10	0.34782	T	0.22	-14.1846	10.3902	0.44164	0.0:0.7833:0.0:0.2167	.	276;276	Q13501;E7EMC7	SQSTM_HUMAN;.	Y	192;276;132;192;276;192	ENSP00000366128:S192Y;ENSP00000374455:S276Y;ENSP00000385553:S192Y;ENSP00000424477:S276Y;ENSP00000353944:S192Y	ENSP00000353944:S192Y	S	+	2	0	0	SQSTM1	179192710	179192710	0.034000	0.19679	0.125000	0.21846	0.141000	0.21300	2.889000	0.48601	0.233000	0.21120	-0.424000	0.05967	TCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-4.925200	1	0.170000				66	65		193	190	1		1	1		0	0	67	0		1	1	0	1638	0	2528	0	66	193
SQSTM1	8878	broad.mit.edu	37	5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597																																						ENST00000389805.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																									SQSTM1/ALK(2)	0				13						c.(829-831)aGc>aTc		sequestosome 1							48.0	51.0	50.0					5																	179260107		2203	4300	6503	SO:0001583	missense	8878	0	0					g.chr5:179260107G>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.830G>T	chr5.hg19:g.179260107G>T	ENSP00000374455:p.Ser277Ile	1					SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I	p.S277I	NM_003900.4	NP_003891.1	1	3	4	2.206214	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	1008	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	1	1	hg19	c.830G>T	CCDS34317.1	1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524800	0.44969	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.83250	-1.7;-1.69;-1.7;2.29;-1.7	5.0	4.12	0.48240	5.0	4.12	0.48240	.	0.387327	0.34088	N	0.004266	D	0.82318	0.5011	M	0.62723	1.935	0.35179	D	0.77226	B;P	0.50943	0.229;0.94	B;P	0.44860	0.087;0.462	D	0.87969	0.2735	10	0.66056	D	0.02	-13.9965	13.5979	0.62002	0.0:0.157:0.843:0.0	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	I	193;277;133;193;277;193	ENSP00000366128:S193I;ENSP00000374455:S277I;ENSP00000385553:S193I;ENSP00000424477:S277I;ENSP00000353944:S193I	ENSP00000353944:S193I	S	+	2	0	0	SQSTM1	179192713	179192713	0.042000	0.20092	0.195000	0.23364	0.168000	0.22595	1.631000	0.37092	1.225000	0.43566	0.491000	0.48974	AGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				37	36		222	219	1		1	1		0	0	67	0		1	1	0	1212	0	2804	0	37	222
C5orf45	51149	broad.mit.edu	37	5	179264406	179264406	+	Silent	SNP	G	G	A	rs552007127	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18568	0.0		0.0	False		,,,				2504	0.001					ENST00000292586.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1015-1017)ttC>ttT		chromosome 5 open reading frame 45							182.0	184.0	183.0					5																	179264406		2203	4300	6503	SO:0001819	synonymous_variant	51149	13	121390	47				g.chr5:179264406G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.1017C>T	chr5.hg19:g.179264406G>A		1					SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron	p.F339F	NM_016175.3	NP_057259.2	1	3	4	2.206214	Q6NTE8	CE045_HUMAN		7	1107	-			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	1	1	hg19	c.1017C>T	CCDS34319.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	1	0	1		2	2	2	0		0	0	229		229	224	1	2.060000	-20.000000	1	0.170000	NM_016175			319	312		934	914	0		1	1		0	0	229	0		1	1	0	236	0	294	0	319	934
C5orf45	51149	broad.mit.edu	37	5	179269014	179269014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000292586.6	-	5	432	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000518219.1_Silent_p.D114D	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498																																						ENST00000292586.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(340-342)gaC>gaT		chromosome 5 open reading frame 45							261.0	281.0	274.0					5																	179269014		2203	4300	6503	SO:0001819	synonymous_variant	51149	0	0					g.chr5:179269014G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.342C>T	chr5.hg19:g.179269014G>A		1					C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518219.1_Silent_p.D114D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D	p.D114D	NM_016175.3	NP_057259.2	1	3	4	2.206214	Q6NTE8	CE045_HUMAN		5	432	-			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	1	1	hg19	c.342C>T	CCDS34319.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	0	0	1		2	2	2	0		0	0	414		414	412	1	2.060000	-20.000000	1	0.170000	NM_016175			455	451		2085	2048	0		1	1		0	0	414	0		1	9.999535e-01	0	10	0	55	0	455	2085
C5orf45	51149	broad.mit.edu	37	5	179275064	179275064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000292586.6	-	3	219	c.129T>G	c.(127-129)gcT>gcG	p.A43A	RN7SKP150_ENST00000410516.1_RNA|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000518235.1_Silent_p.A43A|Y_RNA_ENST00000516393.1_RNA|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000518219.1_Silent_p.A43A	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423																																						ENST00000292586.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(127-129)gcT>gcG		chromosome 5 open reading frame 45							95.0	95.0	95.0					5																	179275064		2203	4300	6503	SO:0001819	synonymous_variant	51149	0	0					g.chr5:179275064A>C		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.129T>G	chr5.hg19:g.179275064A>C		1					RN7SKP150_ENST00000410516.1_RNA|Y_RNA_ENST00000516393.1_RNA|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518219.1_Silent_p.A43A|C5orf45_ENST00000403396.2_Silent_p.A85A	p.A43A	NM_016175.3	NP_057259.2	1	3	4	2.206214	Q6NTE8	CE045_HUMAN		3	219	-			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	1	1	hg19	c.129T>G	CCDS34319.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_016175			105	103		281	277	1		1	1		0	0	135	0		1	9.984841e-01	0	6	0	23	0	105	281
TBC1D9B	23061	broad.mit.edu	37	5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1046						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562																																						ENST00000356834.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(3136-3138)gAc>gGc		TBC1 domain family, member 9B (with GRAM domain)							44.0	38.0	40.0					5																	179291064		2203	4300	6503	SO:0001583	missense	23061	0	0					g.chr5:179291064T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3137A>G	chr5.hg19:g.179291064T>C	ENSP00000349291:p.Asp1046Gly	1					TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G	p.D1046G	NM_198868.2	NP_942568.2	1	3	4	2.206214	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	22	3174	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	1	1	hg19	c.3137A>G	CCDS43408.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.433074|3.433074	0.62844|0.62844	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438|ENST00000524222	T;T;T;T|.	0.36878|.	2.96;3.06;1.23;1.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.189265|.	0.44483|.	D|.	0.000454|.	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.55481|0.55481	1.735|1.735	0.51482|0.51482	D|D	0.999928|0.999928	B;B;B;B;B|.	0.15930|.	0.001;0.002;0.001;0.002;0.015|.	B;B;B;B;B|.	0.18561|.	0.005;0.012;0.005;0.006;0.022|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.62326|.	D|.	0.03|.	-23.3488|-23.3488	15.3622|15.3622	0.74487|0.74487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;1029;1046;245;120|.	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8|.	.;.;TBC9B_HUMAN;.;.|.	G|A	1046;1029;205;187;120|89	ENSP00000349291:D1046G;ENSP00000347375:D1029G;ENSP00000430293:D205G;ENSP00000401585:D187G|.	ENSP00000347375:D1029G|.	D|T	-|-	2|1	0|0	0|0	TBC1D9B|TBC1D9B	179223670|179223670	179223670|179223670	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.989000|0.989000	0.77384|0.77384	3.457000|3.457000	0.53007|0.53007	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	GAC|ACC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_015043			63	62		181	180	1		1	1		0	0	44	0		1	1	0	75	0	194	0	63	181
TBC1D9B	23061	broad.mit.edu	37	5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	665	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597																																						ENST00000356834.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1993-1995)aGc>aTc		TBC1 domain family, member 9B (with GRAM domain)							98.0	91.0	93.0					5																	179302094		2203	4300	6503	SO:0001583	missense	23061	0	0					g.chr5:179302094C>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1994G>T	chr5.hg19:g.179302094C>A	ENSP00000349291:p.Ser665Ile	1					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	p.S665I	NM_198868.2	NP_942568.2	1	3	4	2.206214	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	12	2031	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	1	1	hg19	c.1994G>T	CCDS43408.1	1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534226	0.64972	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.91	5.29	4.41	0.53225	5.29	4.41	0.53225	Rab-GAP/TBC domain (4);	0.059600	0.64402	D	0.000003	T	0.07548	0.0190	N	0.25201	0.72	0.80722	D	1	P;B;B	0.34699	0.464;0.409;0.263	B;B;B	0.36766	0.232;0.149;0.232	T	0.09378	-1.0677	10	0.05833	T	0.94	-31.843	14.2923	0.66286	0.0:0.7149:0.2851:0.0	.	665;665;665	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	665	ENSP00000349291:S665I;ENSP00000347375:S665I	ENSP00000347375:S665I	S	-	2	0	0	TBC1D9B	179234700	179234700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.038000	0.57318	2.469000	0.83416	0.491000	0.48974	AGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	0	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_015043			121	118		380	373	1		1	1		0	0	72	0		1	1	0	98	0	225	0	121	380
RASGEF1C	255426	broad.mit.edu	37	5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	357	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)			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)			CTCTCGGCTGCTGTGGGCCGT	0.672																																						ENST00000393371.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1069-1071)aGc>aAc		RasGEF domain family, member 1C							38.0	47.0	44.0					5																	179545622		2202	4298	6500	SO:0001583	missense	255426	0	0					g.chr5:179545622C>T	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.1070G>A	chr5.hg19:g.179545622C>T	ENSP00000377037:p.Ser357Asn	1					RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N	p.S357N			1	3	4	2.206214	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1366	-	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)	D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	1	1	hg19	c.1070G>A	CCDS4452.1	1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678280	0.47886	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30981	1.51;1.51;1.51	4.18	3.31	0.37934	4.18	3.31	0.37934	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.51422	1.61	0.49798	D	0.999829	B	0.29766	0.256	B	0.35607	0.206	T	0.16630	-1.0396	10	0.56958	D	0.05	.	11.3716	0.49702	0.0:0.9071:0.0:0.0929	.	357	Q8N431	RGF1C_HUMAN	N	357;357;206	ENSP00000354963:S357N;ENSP00000377037:S357N;ENSP00000429114:S206N	ENSP00000354963:S357N	S	-	2	0	0	RASGEF1C	179478228	179478228	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.189000	0.65098	1.064000	0.40671	0.313000	0.20887	AGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	1	0	1		2	2	2	0		0	0	75		75	70	1	2.060000	-2.885927	1	0.170000	NM_175062			104	104		480	473	1		1			0	0	75	0		1	0	0	0	0	0	0	104	480
MAPK9	5601	broad.mit.edu	37	5	179666973	179666973	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000452135.2	-	10	1309	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000455781.1_Silent_p.I337I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	337					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)			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)			GGGCATCATAAATTTGAGGTG	0.338																																						ENST00000452135.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1009-1011)atT>atA		mitogen-activated protein kinase 9							153.0	143.0	146.0					5																	179666973		2203	4300	6503	SO:0001819	synonymous_variant	5601	0	0					g.chr5:179666973A>T	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.1011T>A	chr5.hg19:g.179666973A>T		1					MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Silent_p.I337I|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000347470.4_Silent_p.I252I	p.I337I			1	3	4	2.206214	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	10	1309	-	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)	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	1	1	hg19	c.1011T>A	CCDS4453.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000				70	69		321	314	1		1	1		0	0	77	0		1	1	0	62	0	165	0	70	321
MAPK9	5601	broad.mit.edu	37	5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000452135.2	-	6	828	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	177	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)			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)			GAAGTTAGTGCACGCTGTCCG	0.512																																						ENST00000452135.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(529-531)tGc>tAc		mitogen-activated protein kinase 9							155.0	156.0	156.0					5																	179676059		2203	4300	6503	SO:0001583	missense	5601	0	0					g.chr5:179676059C>T	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.530G>A	chr5.hg19:g.179676059C>T	ENSP00000394560:p.Cys177Tyr	1					MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y	p.C177Y			1	3	4	2.206214	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	828	-	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)	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	1	1	hg19	c.530G>A	CCDS4453.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703293	0.48412	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	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	0.51058	0.1652	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.33612	0.148;0.297;0.297;0.297;0.419	B;B;B;B;B	0.34824	0.015;0.19;0.015;0.015;0.041	T	0.56547	-0.7961	10	0.72032	D	0.01	-16.9108	19.6612	0.95875	0.0:1.0:0.0:0.0	.	177;177;177;177;177	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	177	ENSP00000394560:C177Y;ENSP00000377028:C177Y;ENSP00000389338:C177Y;ENSP00000345524:C177Y;ENSP00000321410:C177Y;ENSP00000397422:C177Y;ENSP00000443149:C177Y	ENSP00000345524:C177Y	C	-	2	0	0	MAPK9	179608665	179608665	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	TGC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3	0	0	0		2	2	2	0		0	0	215		215	212	1	2.060000	-20.000000	1	0.170000				285	282		901	886	0		1	1		0	0	215	0		1	1	0	73	0	140	0	285	901
GFPT2	9945	broad.mit.edu	37	5	179743450	179743450	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	388	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			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)	GTTCCTCCAAAACTTGCCGCG	0.498																																						ENST00000253778.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				34						c.(1162-1164)gtT>gtG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						84.0	81.0	82.0					5																	179743450		2032	4211	6243	SO:0001819	synonymous_variant	9945	0	0					g.chr5:179743450A>C	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.1164T>G	chr5.hg19:g.179743450A>C		1					GFPT2_ENST00000520165.1_5'Flank	p.V388V	NM_005110.2	NP_005101.1	1	3	4	2.206214	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	13	1333	-	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)	Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	1	1	hg19	c.1164T>G	CCDS43411.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_005110			29	26		166	162	1		1	1		0	0	46	0		1	9.999980e-01	0	2	0	123	0	29	166
GFPT2	9945	broad.mit.edu	37	5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	132	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				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)			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)	CTTACCAGAAATTTCCTCAGA	0.438																																						ENST00000253778.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(394-396)Ttt>Gtt		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						79.0	77.0	78.0					5																	179758500		1835	4097	5932	SO:0001583	missense	9945	0	0					g.chr5:179758500A>C	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.394T>G	chr5.hg19:g.179758500A>C	ENSP00000253778:p.Phe132Val	1						p.F132V	NM_005110.2	NP_005101.1	1	3	4	2.206214	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	563	-	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)	Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	1	1	hg19	c.394T>G	CCDS43411.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437962	0.83885	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76186	-1.0;-1.0	5.48	5.48	0.80851	5.48	5.48	0.80851	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051822	0.85682	D	0.000000	T	0.73860	0.3641	L	0.41027	1.25	0.58432	D	0.999991	P	0.42692	0.787	P	0.48921	0.595	T	0.72221	-0.4356	9	.	.	.	-18.5472	15.25	0.73536	1.0:0.0:0.0:0.0	.	132	O94808	GFPT2_HUMAN	V	132;34	ENSP00000253778:F132V;ENSP00000431125:F34V	.	F	-	1	0	0	GFPT2	179691106	179691106	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	9.094000	0.94168	2.084000	0.62774	0.459000	0.35465	TTT	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_005110			41	41		151	150	1		1	0		0	0	46	0		1	1	0	0	0	110	0	41	151
FLT4	2324	broad.mit.edu	37	5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1206					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	1.000000	0.870000	1	9.900000e-01	0.990000	0.990068	0.990000	1.000000																										0				71						c.(3616-3618)Gcc>Acc		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						82.0	84.0	84.0					5																	180038401		2203	4300	6503	SO:0001583	missense	2324	0	0					g.chr5:180038401C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3616G>A	chr5.hg19:g.180038401C>T	ENSP00000261937:p.Ala1206Thr	1					FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T|FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T	p.A1206T	NM_182925.4	NP_891555.2	1	3	4	2.206214	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	27	3694	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	1	1	hg19	c.3616G>A	CCDS4457.1	1	.	.	.	.	.	.	.	.	.	.	C	8.093	0.774853	0.16051	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77229	-1.08;-1.08;-1.07	4.48	4.48	0.54585	4.48	4.48	0.54585	.	.	.	.	.	T	0.54886	0.1886	N	0.08118	0	0.38878	D	0.956844	B;B	0.33549	0.286;0.417	B;B	0.29598	0.103;0.104	T	0.57087	-0.7871	9	0.22109	T	0.4	.	10.5112	0.44864	0.0:0.9099:0.0:0.0901	.	1206;1206	E9PD35;P35916	.;VGFR3_HUMAN	T	1206	ENSP00000261937:A1206T;ENSP00000377016:A1206T;ENSP00000426057:A1206T	ENSP00000261937:A1206T	A	-	1	0	0	FLT4	179971007	179971007	0.998000	0.40836	0.929000	0.37066	0.018000	0.09664	4.128000	0.57951	2.492000	0.84095	0.555000	0.69702	GCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-16.367790	1	0.170000				65	64		707	702	0		1	0		0	0	118	0		1	5.134904e-01	0	0	0	20	0	65	707
FLT4	2324	broad.mit.edu	37	5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T	rs267606818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in LMPH1A; loss of kinase activity). {ECO:0000269|PubMed:10835628}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71	GRCh37	CM001158	FLT4	M		c.(2569-2571)Ggg>Agg		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						54.0	57.0	56.0					5																	180046743		2203	4298	6501	SO:0001583	missense	2324	0	0					g.chr5:180046743C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2569G>A	chr5.hg19:g.180046743C>T	ENSP00000261937:p.Gly857Arg	1					FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R|FLT4_ENST00000393347.3_Missense_Mutation_p.G857R	p.G857R	NM_182925.4	NP_891555.2	1	3	4	2.206214	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	18	2647	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	1	1	hg19	c.2569G>A	CCDS4457.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504333	0.85176	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.95103	-3.61;-3.61;-3.61	4.28	4.28	0.50868	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98175	0.9397	H	0.96430	3.82	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	0.99612	1.0981	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	667;857;857	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	R	857;857;857;667	ENSP00000261937:G857R;ENSP00000377016:G857R;ENSP00000426057:G857R	ENSP00000261937:G857R	G	-	1	0	0	FLT4	179979349	179979349	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-3.564086	1	0.170000				136	135		461	452	1		1	0		0	0	105	0		1	4.137099e-01	0	0	0	6	0	136	461
FLT4	2324	broad.mit.edu	37	5	180055887	180055887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000393347.3_Silent_p.F366F|FLT4_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	366	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1096-1098)ttC>ttT		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						25.0	29.0	27.0					5																	180055887		2196	4296	6492	SO:0001819	synonymous_variant	2324	0	0					g.chr5:180055887G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1098C>T	chr5.hg19:g.180055887G>A		1					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000393347.3_Silent_p.F366F	p.F366F	NM_182925.4	NP_891555.2	1	3	4	2.206214	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	8	1176	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	1	1	hg19	c.1098C>T	CCDS4457.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000				55	51		244	232	1		1	0		0	0	51	0		1	7.910085e-01	0	0	0	15	0	55	244
FLT4	2324	broad.mit.edu	37	5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	234	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(700-702)Ctg>Atg		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						75.0	65.0	69.0					5																	180056812		2199	4297	6496	SO:0001583	missense	2324	0	0					g.chr5:180056812G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.700C>A	chr5.hg19:g.180056812G>T	ENSP00000261937:p.Leu234Met	1					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000393347.3_Missense_Mutation_p.L234M	p.L234M	NM_182925.4	NP_891555.2	1	3	4	2.206214	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	778	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	1	1	hg19	c.700C>A	CCDS4457.1	1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069511	0.55539	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78924	-1.22;-1.22;-1.22	4.91	4.03	0.46877	4.91	4.03	0.46877	Immunoglobulin-like (1);	.	.	.	.	D	0.84579	0.5503	M	0.66939	2.045	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;0.975;0.975	D;D;D;D	0.97110	0.999;1.0;0.951;0.934	D	0.83885	0.0281	9	0.49607	T	0.09	.	9.3967	0.38406	0.0754:0.0:0.7799:0.1447	.	234;234;234;234	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	234;234;234;44	ENSP00000261937:L234M;ENSP00000377016:L234M;ENSP00000426057:L234M	ENSP00000261937:L234M	L	-	1	2	2	FLT4	179989418	179989418	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.092000	0.64511	1.190000	0.43042	-0.310000	0.09108	CTG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				34	32		99	98	1		1	0		0	0	23	0		1	9.587242e-01	0	0	0	18	0	34	99
FLT4	2324	broad.mit.edu	37	5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000393347.3_Missense_Mutation_p.A118V|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	118	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(352-354)gCa>gTa		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						185.0	142.0	157.0					5																	180057602		2203	4299	6502	SO:0001583	missense	2324	0	0					g.chr5:180057602G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.353C>T	chr5.hg19:g.180057602G>A	ENSP00000261937:p.Ala118Val	1					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000393347.3_Missense_Mutation_p.A118V	p.A118V	NM_182925.4	NP_891555.2	1	3	4	2.206214	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	431	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	1	1	hg19	c.353C>T	CCDS4457.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591855	0.46214	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77098	-1.07;-1.07;-1.07	4.9	4.9	0.64082	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	L	0.42245	1.32	0.46631	D	0.999134	P;P;P;B;B	0.51537	0.946;0.934;0.492;0.005;0.002	P;P;B;B;B	0.51701	0.636;0.677;0.184;0.021;0.014	T	0.74481	-0.3651	9	0.33141	T	0.24	.	11.9624	0.53015	0.0801:0.0:0.9199:0.0	.	118;118;118;118;118	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	V	118	ENSP00000261937:A118V;ENSP00000377016:A118V;ENSP00000426057:A118V	ENSP00000261937:A118V	A	-	2	0	0	FLT4	179990208	179990208	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.973000	0.56845	2.465000	0.83290	0.456000	0.33151	GCA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0	0	0		19	3	2	1		1	1	57		57	57	1	2.060000	-20.000000	1	0.170000				98	97		238	236	1		1	0		1	0	57	0		1	8.534537e-01	0	0	0	15	0	98	238
NDUFS6	4726	broad.mit.edu	37	5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MRPL36_ENST00000505059.2_5'Flank|MRPL36_ENST00000382647.7_5'Flank|MRPL36_ENST00000508987.1_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N|MRPL36_ENST00000505818.1_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	48					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						GGTTTATGATGATAAAGACTA	0.338																																						ENST00000274137.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(142-144)Gat>Aat		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)							99.0	102.0	101.0					5																	1802444		2203	4300	6503	SO:0001583	missense	4726	0	0					g.chr5:1802444G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.142G>A	chr5.hg19:g.1802444G>A	ENSP00000274137:p.Asp48Asn	0					MRPL36_ENST00000505059.2_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N|MRPL36_ENST00000382647.7_5'Flank|MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505818.1_5'Flank	p.D48N	NM_004553.4	NP_004544.1	0	0	0	1.967783	O75380	NDUS6_HUMAN		2	160	+				Missense_Mutation	SNP	ENST00000274137.5	1	1	hg19	c.142G>A	CCDS3866.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080091	0.36662	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77098	-1.07	4.32	1.48	0.22813	4.32	1.48	0.22813	.	0.417168	0.26855	N	0.022151	T	0.71409	0.3336	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62817	-0.6774	10	0.59425	D	0.04	-2.9912	7.4969	0.27494	0.2902:0.0:0.7098:0.0	.	48	O75380	NDUS6_HUMAN	N	48	ENSP00000274137:D48N	ENSP00000274137:D48N	D	+	1	0	0	NDUFS6	1855444	1855444	0.992000	0.36948	0.003000	0.11579	0.961000	0.63080	4.399000	0.59703	-0.008000	0.14320	0.558000	0.71614	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_004553			50	50		227	223	1		1	1		0	0	41	0		1	1	0	121	0	329	0	50	227
MGAT1	4245	broad.mit.edu	37	5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T	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	398					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)			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)			AGAGCCTTGGCGAAAGCCTTG	0.617																																						ENST00000446023.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1192-1194)Gcc>Acc		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							76.0	69.0	71.0					5																	180218780		2203	4300	6503	SO:0001583	missense	4245	2	121412	32				g.chr5:180218780C>T	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.1192G>A	chr5.hg19:g.180218780C>T	ENSP00000404718:p.Ala398Thr	1					MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	1	3	4	2.206214	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	1942	-	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)	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	1	1	hg19	c.1192G>A	CCDS4458.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355865	0.82243	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.51055	0.657	D	0.85120	0.0968	10	0.18276	T	0.48	-21.9415	15.8674	0.79074	0.0:1.0:0.0:0.0	.	398	P26572	MGAT1_HUMAN	T	398;398;398;398;255;398	ENSP00000332073:A398T;ENSP00000311888:A398T;ENSP00000404718:A398T;ENSP00000377010:A398T;ENSP00000402838:A398T	ENSP00000311888:A398T	A	-	1	0	0	MGAT1	180151386	180151386	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.840000	0.75369	2.692000	0.91855	0.655000	0.94253	GCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-6.446701	1	0.170000	NM_001114618			92	92		248	243	1		1	1		0	0	66	0		1	1	0	162	0	861	0	92	248
BTNL8	79908	broad.mit.edu	37	5	180338566	180338566	+	Missense_Mutation	SNP	C	C	T	rs143894862	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180338566C>T	ENST00000340184.4	+	3	831	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.R209W|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84W|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209W|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93W	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTTCCATGCGGCATGCTCA	0.552													C|||	23	0.00459265	0.0174	0.0	5008	,	,		18512	0.0		0.0	False		,,,				2504	0.0					ENST00000340184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(625-627)Cgg>Tgg		butyrophilin-like 8		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	52,4354	52.3+/-87.9	0,52,2151	69.0	68.0	68.0		625,277,625,250,73,625	2.7	0.0	5	dbSNP_134	68	0,8592		0,0,4296	yes	missense,missense,missense,missense,missense,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	101,101,101,101,101,101	0,52,6447	TT,TC,CC		0.0,1.1802,0.4001	benign,benign,benign,benign,benign,benign	209/501,93/385,209/341,84/376,25/317,209/348	180338566	52,12946	2203	4296	6499	SO:0001583	missense	79908	146	121412	53				g.chr5:180338566C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.625C>T	chr5.hg19:g.180338566C>T	ENSP00000342197:p.Arg209Trp	1					BTNL8_ENST00000508408.1_Missense_Mutation_p.R209W|BTNL8_ENST00000231229.4_Missense_Mutation_p.R209W|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25W|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84W|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93W	p.R209W	NM_001040462.2	NP_001035552.1	1	3	4	2.206214	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	831	+	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	1	0	hg19	c.625C>T	CCDS43413.1	1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	8.734	0.917376	0.17982	0.011802	0.0	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.62639	3.27;3.27;3.27;3.27;3.27;0.01;0.18	3.59	2.69	0.31865	3.59	2.69	0.31865	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37100	0.0991	N	0.26042	0.785	0.09310	N	1	D;B;P;D;B	0.56968	0.978;0.24;0.947;0.97;0.002	B;B;B;B;B	0.40534	0.12;0.011;0.332;0.332;0.0	T	0.15867	-1.0422	9	0.45353	T	0.12	.	8.4213	0.32703	0.2343:0.7657:0.0:0.0	.	84;93;209;209;209	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	W	209;209;84;209;93;2;25	ENSP00000231229:R209W;ENSP00000342197:R209W;ENSP00000383543:R84W;ENSP00000424585:R209W;ENSP00000425207:R93W;ENSP00000427441:R2W;ENSP00000435098:R25W	ENSP00000231229:R209W	R	+	1	2	2	BTNL8	180271172	180271172	0.005000	0.15991	0.024000	0.17045	0.033000	0.12548	1.008000	0.29872	0.611000	0.30052	0.205000	0.17691	CGG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-2.667046	1	0.170000	NM_024850			104	103		309	304	1		1	1		0	0	84	0		1	9.997981e-01	0	23	0	17	0	104	309
BTNL8	79908	broad.mit.edu	37	5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000508408.1_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512																																						ENST00000340184.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1150-1152)gGa>gAa		butyrophilin-like 8							135.0	125.0	128.0					5																	180377192		2061	3871	5932	SO:0001583	missense	79908	0	0					g.chr5:180377192G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1151G>A	chr5.hg19:g.180377192G>A	ENSP00000342197:p.Gly384Glu	1					BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E	p.G384E	NM_001040462.2	NP_001035552.1	1	3	4	2.206214	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	8	1357	+	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	1	1	hg19	c.1151G>A	CCDS43413.1	1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296925	0.01364	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	1.89	-3.78	0.04333	1.89	-3.78	0.04333	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33440	0.0863	N	0.13098	0.295	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.0;0.0;0.006	T	0.06127	-1.0844	9	0.11485	T	0.65	.	2.5575	0.04764	0.3517:0.1419:0.3936:0.1128	.	259;268;384	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	E	384;259;268;177;200	ENSP00000342197:G384E;ENSP00000383543:G259E;ENSP00000425207:G268E;ENSP00000427441:G177E;ENSP00000435098:G200E	ENSP00000342197:G384E	G	+	2	0	0	BTNL8	180309798	180309798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-3.895000	0.00094	-2.987000	0.00079	GGA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_024850			105	105		283	275	1		1	1		0	0	91	0		1	9.999997e-01	0	34	0	28	0	105	283
BTNL3	10917	broad.mit.edu	37	5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	162	Ig-like V-type.					integral component of membrane (GO:0016021)				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)			GGTTCCCCCAGCCCACAGCCA	0.512																																						ENST00000342868.6	1.000000	0.220000	1	3.100000e-01	0.420000	0.523550	0.420000	0.370000																										0				25						c.(484-486)caG>caT		butyrophilin-like 3							108.0	97.0	101.0					5																	180424301		2149	3950	6099	SO:0001583	missense	10917	0	0					g.chr5:180424301G>T	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.486G>T	chr5.hg19:g.180424301G>T	ENSP00000341787:p.Gln162His	1						p.Q162H	NM_197975.2	NP_932079.1	1	3	4	2.206214	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)	3	670	+	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)	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	1	1	hg19	c.486G>T	CCDS47358.1	0	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160223	0.38119	.	.	ENSG00000168903	ENST00000342868	T	0.41065	1.01	3.9	0.271	0.15640	3.9	0.271	0.15640	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.68952	2.095	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.28299	-1.0048	9	0.72032	D	0.01	.	7.3458	0.26662	0.4953:0.0:0.5047:0.0	.	162	Q6UXE8	BTNL3_HUMAN	H	162	ENSP00000341787:Q162H	ENSP00000341787:Q162H	Q	+	3	2	2	BTNL3	180356907	180356907	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.115000	0.10741	-0.086000	0.12550	0.531000	0.56144	CAG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	0	0	0		2	2	2	0		0	0	84		84	83	1	2.060000	-13.368260	1	0.170000	NM_197975			15	15		506	494	0		1			0	0	84	0		9.998501e-01	0	0	0	0	0	0	15	506
BTNL3	10917	broad.mit.edu	37	5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				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)			TTTGTATTTCACATTCAATCC	0.498																																						ENST00000342868.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1168-1170)Aca>Gca		butyrophilin-like 3							165.0	173.0	170.0					5																	180432639		2084	4206	6290	SO:0001583	missense	10917	0	0					g.chr5:180432639A>G	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.1168A>G	chr5.hg19:g.180432639A>G	ENSP00000341787:p.Thr390Ala	1					RNU6-1036P_ENST00000383959.1_RNA	p.T390A	NM_197975.2	NP_932079.1	1	3	4	2.206214	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)	8	1352	+	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)	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	1	1	hg19	c.1168A>G	CCDS47358.1	1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544902	0.13312	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59906	0.23	3.0	-5.49	0.02584	3.0	-5.49	0.02584	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.31765	0.0807	N	0.02120	-0.675	0.09310	N	1	P;P	0.52463	0.953;0.798	P;B	0.54759	0.76;0.433	T	0.18023	-1.0350	9	0.07175	T	0.84	.	7.0513	0.25075	0.2235:0.0:0.6358:0.1407	.	356;390	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	390;356	ENSP00000341787:T390A	ENSP00000341787:T390A	T	+	1	0	0	BTNL3	180365245	180365245	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.079000	0.14782	-1.249000	0.02500	0.164000	0.16699	ACA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_197975			107	104		271	266	1		1			0	0	50	0		1	0	0	0	0	0	0	107	271
BTNL9	153579	broad.mit.edu	37	5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000327705.9	+	3	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	82	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617																																						ENST00000327705.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(244-246)Gtg>Atg		butyrophilin-like 9							65.0	56.0	59.0					5																	180475061		2203	4299	6502	SO:0001583	missense	153579	0	0					g.chr5:180475061G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.244G>A	chr5.hg19:g.180475061G>A	ENSP00000330200:p.Val82Met	1					BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M	p.V82M	NM_152547.4	NP_689760.2	1	3	4	2.206214	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	475	+	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	1	1	hg19	c.244G>A	CCDS4460.2	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745701	0.30955	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.17	4.76	2.95	0.34219	4.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32068	N	0.006623	T	0.77405	0.4125	M	0.84219	2.685	0.09310	N	1	D;P	0.71674	0.998;0.953	D;P	0.71870	0.975;0.873	T	0.66360	-0.5943	10	0.72032	D	0.01	.	3.9571	0.09395	0.1952:0.0:0.6167:0.1881	.	13;82	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	M	82;82;82;82;13	ENSP00000366037:V82M;ENSP00000330200:V82M;ENSP00000366038:V82M;ENSP00000427345:V13M	ENSP00000330200:V82M	V	+	1	0	0	BTNL9	180407667	180407667	0.038000	0.19896	0.579000	0.28588	0.001000	0.01503	0.707000	0.25704	1.314000	0.45095	0.650000	0.86243	GTG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_152547			47	47		144	144	1		1			0	0	32	0		1	0	0	0	0	0	0	47	144
BTNL9	153579	broad.mit.edu	37	5	180480219	180480219	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000327705.9	+	5	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000511589.1_3'UTR	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	252						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721																																						ENST00000327705.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(754-756)gcC>gcA		butyrophilin-like 9							18.0	22.0	21.0					5																	180480219		2174	4247	6421	SO:0001819	synonymous_variant	153579	0	0					g.chr5:180480219C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.756C>A	chr5.hg19:g.180480219C>A		1					BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000511589.1_3'UTR	p.A252A	NM_152547.4	NP_689760.2	1	3	4	2.206214	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	987	+	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	1	1	hg19	c.756C>A	CCDS4460.2	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_152547			20	20		77	75	0		1	0		0	0	17	0		9.999975e-01	0	0	0	0	1	0	20	77
BTNL9	153579	broad.mit.edu	37	5	180486818	180486818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180486818C>A	ENST00000327705.9	+	11	1795	c.1564C>A	c.(1564-1566)Cta>Ata	p.L522I	BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	522						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACACCTGGCTACAGCCCTA	0.726																																						ENST00000327705.9	1.000000	0.620000	1	9.000000e-01	0.990000	0.956892	0.990000	1.000000																										0				19						c.(1564-1566)Cta>Ata		butyrophilin-like 9							13.0	13.0	13.0					5																	180486818		2196	4294	6490	SO:0001583	missense	153579	0	0					g.chr5:180486818C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1564C>A	chr5.hg19:g.180486818C>A	ENSP00000330200:p.Leu522Ile	1					BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	p.L522I	NM_152547.4	NP_689760.2	1	3	4	2.206214	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	11	1795	+	all_cancers(89;2.45e-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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	0	1	hg19	c.1564C>A	CCDS4460.2	1	.	.	.	.	.	.	.	.	.	.	g	9.609	1.130772	0.21041	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.39997	1.07;1.05	4.32	-8.64	0.00874	4.32	-8.64	0.00874	.	1.887700	0.04364	N	0.357958	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.14392	-1.0474	10	0.41790	T	0.15	.	1.0467	0.01571	0.1756:0.2951:0.2863:0.2431	.	522	Q6UXG8	BTNL9_HUMAN	I	522;523	ENSP00000330200:L522I;ENSP00000366038:L523I	ENSP00000330200:L522I	L	+	1	2	2	BTNL9	180419424	180419424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.888000	0.00173	-3.227000	0.00210	-1.651000	0.00758	CTA	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-15.242120	1	0.170000	NM_152547			9	9		94	94	0		1	0		0	0	12	0		9.948997e-01	2.443938e-01	0	1	0	9	0	9	94
TRIM7	81786	broad.mit.edu	37	5	180622208	180622208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000274773.7	-	7	1555	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TRIM7_ENST00000393319.3_Silent_p.F316F|TRIM7_ENST00000361809.3_Silent_p.F290F|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000422067.2_Silent_p.F290F|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393315.1_Silent_p.F290F	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	498	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000274773.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1492-1494)ttC>ttT		tripartite motif containing 7							59.0	43.0	49.0					5																	180622208		2203	4300	6503	SO:0001819	synonymous_variant	81786	0	0					g.chr5:180622208G>A	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1494C>T	chr5.hg19:g.180622208G>A		1					TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000393315.1_Silent_p.F290F|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Silent_p.F316F	p.F498F	NM_203293.1	NP_976038.1	1	3	4	2.206214	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	7	1555	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	1	1	hg19	c.1494C>T	CCDS4462.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_203296			44	44		147	145	1		1	1		0	0	33	0		1	9.074426e-01	0	12	0	4	0	44	147
TRIM41	90933	broad.mit.edu	37	5	180651776	180651776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	259					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)			AACAGCACAGCGTGGTGCCAT	0.547																																						ENST00000315073.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(775-777)agC>agT		tripartite motif containing 41							77.0	68.0	71.0					5																	180651776		2203	4300	6503	SO:0001819	synonymous_variant	90933	2	121412	32				g.chr5:180651776C>T	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.777C>T	chr5.hg19:g.180651776C>T		1					CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S|MIR4638_ENST00000581158.1_RNA	p.S259S	NM_033549.4	NP_291027.3	1	3	4	2.206214	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	1	1487	+	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)	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	1	1	hg19	c.777C>T	CCDS4466.1	1																																																																																								2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-4.650289	1	0.170000	NM_201627			97	94		320	306	1		1	1		0	0	88	0		1	1	0	65	0	59	0	97	320
TRIM41	90933	broad.mit.edu	37	5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T	rs555265813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	605	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)			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)			CACACCTTCTCGGCTGCCTTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13107	0.0		0.0	False		,,,				2504	0.0					ENST00000315073.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1813-1815)tCg>tTg		tripartite motif containing 41							97.0	105.0	102.0					5																	180661696		2203	4300	6503	SO:0001583	missense	90933	2	121412	38				g.chr5:180661696C>T	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.1814C>T	chr5.hg19:g.180661696C>T	ENSP00000320869:p.Ser605Leu	1					TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	p.S605L	NM_033549.4	NP_291027.3	1	3	4	2.206214	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	6	2524	+	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)	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	1	1	hg19	c.1814C>T	CCDS4466.1	1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206989	0.22205	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.70282	-0.47	4.86	3.98	0.46160	4.86	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.328211	0.22250	N	0.062574	T	0.76814	0.4040	L	0.55990	1.75	0.20074	N	0.999938	D	0.69078	0.997	P	0.60682	0.878	T	0.68164	-0.5481	10	0.72032	D	0.01	.	10.9864	0.47525	0.0:0.8113:0.1887:0.0	.	605	Q8WV44	TRI41_HUMAN	L	605;290	ENSP00000320869:S605L	ENSP00000320869:S605L	S	+	2	0	0	TRIM41	180594302	180594302	0.201000	0.23410	0.441000	0.26858	0.001000	0.01503	0.018000	0.13422	1.250000	0.43966	-0.519000	0.04390	TCG	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	0	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-2.921322	1	0.170000	NM_201627			128	127		684	670	1		1	1		0	0	123	0		1	9.999956e-01	0	10	0	83	0	128	684
PLEKHG4B	153478	broad.mit.edu	37	5	182382	182382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1254							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		GGGCACCCAGGCTGCAGTGTG	0.622																																						ENST00000283426.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.(3760-3762)Gct>Act		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							21.0	22.0	22.0					5																	182382		2203	4299	6502	SO:0001583	missense	153478	0	0					g.chr5:182382G>A	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.3760G>A	chr5.hg19:g.182382G>A	ENSP00000283426:p.Ala1254Thr	0						p.A1254T	NM_052909.3	NP_443141.3	0	0	0	1.967783	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	18	3810	+				Missense_Mutation	SNP	ENST00000283426.6	1	1	hg19	c.3760G>A	CCDS34124.1	1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997387	0.35226	.	.	ENSG00000153404	ENST00000283426	T	0.30448	1.53	3.55	1.64	0.23874	3.55	1.64	0.23874	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26396	N	0.976497	P	0.43477	0.808	B	0.30179	0.112	T	0.06625	-1.0816	9	0.72032	D	0.01	.	9.5746	0.39450	0.0:0.6027:0.3972:0.0	.	1254	Q96PX9	PKH4B_HUMAN	T	1254	ENSP00000283426:A1254T	ENSP00000283426:A1254T	A	+	1	0	0	PLEKHG4B	235382	235382	1.000000	0.71417	0.112000	0.21494	0.010000	0.07245	2.491000	0.45303	0.020000	0.15106	-0.499000	0.04595	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_052909			33	32		127	126	1		1			0	0	27	0		1	0	0	0	0	0	0	33	127
LRRC14B	389257	broad.mit.edu	37	5	194943	194943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	ENST00000328278.3	+	2	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	340										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACCTCAGTGGACACAACCTGG	0.617																																						ENST00000328278.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997022	0.990000	1.000000																										0				10						c.(1018-1020)ggA>ggG		leucine rich repeat containing 14B							33.0	37.0	36.0					5																	194943		2133	4246	6379	SO:0001819	synonymous_variant	389257	0	0					g.chr5:194943A>G		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1020A>G	chr5.hg19:g.194943A>G		0					CTD-2083E4.7_ENST00000563761.1_RNA	p.G340G	NM_001080478.1	NP_001073947.1	0	0	0	1.967783	A6NHZ5	LR14B_HUMAN		2	1048	+				Silent	SNP	ENST00000328278.3	1	1	hg19	c.1020A>G	CCDS47184.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999660	1	0.170000	NM_001080478			13	13		67	65	1		1			0	0	19	0		9.996296e-01	0	0	0	0	0	0	13	67
LRRC14B	389257	broad.mit.edu	37	5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617																																						ENST00000328278.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1345-1347)Cag>Tag		leucine rich repeat containing 14B							105.0	118.0	113.0					5																	195268		2155	4267	6422	SO:0001587	stop_gained	389257	1	121248	28				g.chr5:195268C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1345C>T	chr5.hg19:g.195268C>T	ENSP00000327675:p.Gln449*	0					CTD-2083E4.7_ENST00000563761.1_RNA	p.Q449*	NM_001080478.1	NP_001073947.1	0	0	0	1.967783	A6NHZ5	LR14B_HUMAN		2	1373	+				Nonsense_Mutation	SNP	ENST00000328278.3	0	1	hg19	c.1345C>T	CCDS47184.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.567915	0.96540	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.41	4.52	0.55395	5.41	4.52	0.55395	.	0.268654	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4499	0.55671	0.0:0.6762:0.3238:0.0	.	.	.	.	X	449	.	ENSP00000327675:Q449X	Q	+	1	0	0	LRRC14B	248268	248268	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.016000	0.40971	1.259000	0.44117	0.561000	0.74099	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	1	0	1		2	2	2	0		0	0	147		147	145	1	2.060000	-20.000000	1	0.170000	NM_001080478			178	177		679	670	1		1			0	0	147	0		1	0	0	0	0	0	0	178	679
SDHA	6389	broad.mit.edu	37	5	235284	235284	+	Missense_Mutation	SNP	G	G	A	rs372738835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000510361.1_Missense_Mutation_p.V316I|SDHA_ENST00000504309.1_Missense_Mutation_p.V364I	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	364					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567									Familial Paragangliomas																													ENST00000264932.6	1.000000	0.790000	1	9.500000e-01	0.990000	0.978846	0.990000	1.000000																										0				40						c.(1090-1092)Gtc>Atc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	G	ILE/VAL	0,4406		0,0,2203	59.0	53.0	55.0		1090	5.1	1.0	5		55	1,8595		0,1,4297	no	missense	SDHA	NM_004168.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	364/665	235284	1,13001	2203	4298	6501	SO:0001583	missense	6389	3	121412	32	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	g.chr5:235284G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1090G>A	chr5.hg19:g.235284G>A	ENSP00000264932:p.Val364Ile	0					SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	p.V364I	NM_004168.2	NP_004159.2	0	0	0	1.967783	P31040	SDHA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)	9	1205	+			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	1	1	hg19	c.1090G>A	CCDS3853.1	1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.347429	0.24426	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71698	-0.59;-0.59;-0.59	5.12	5.12	0.69794	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.53449	0.1797	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.26602	0.154;0.05;0.002;0.001;0.001	B;B;B;B;B	0.27500	0.08;0.04;0.013;0.009;0.009	T	0.51888	-0.8648	10	0.02654	T	1	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	316;364;364;364;370	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	I	364;219;364;316	ENSP00000264932:V364I;ENSP00000426514:V364I;ENSP00000427703:V316I	ENSP00000264932:V364I	V	+	1	0	0	SDHA	288284	288284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.024000	0.93689	2.541000	0.85698	0.557000	0.71058	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_004168			30	30		273	263	1		1	1		0	0	66	0		1	1	0	64	0	421	0	30	273
SDHA	6389	broad.mit.edu	37	5	251561	251561	+	Missense_Mutation	SNP	C	C	T	rs367621815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000504309.1_Intron|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	591				A -> T (in Ref. 3; AAD51006). {ECO:0000305}.	cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627									Familial Paragangliomas																													ENST00000264932.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1771-1773)gCg>gTg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	T	VAL/ALA	0,4406		0,0,2203	47.0	53.0	51.0		1772	3.8	0.0	5		51	1,8599		0,1,4299	no	missense	SDHA	NM_004168.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	591/665	251561	1,13005	2203	4300	6503	SO:0001583	missense	6389	0	0		Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	g.chr5:251561C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1772C>T	chr5.hg19:g.251561C>T	ENSP00000264932:p.Ala591Val	0					SDHA_ENST00000504309.1_Intron|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V	p.A591V	NM_004168.2	NP_004159.2	0	0	0	1.967783	P31040	SDHA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)	13	1887	+			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	1	1	hg19	c.1772C>T	CCDS3853.1	1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.058988	0.36373	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	D;D;D	0.85258	-1.96;-1.96;-1.96	3.79	3.79	0.43588	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.145674	0.45606	U	0.000356	D	0.93301	0.7865	M	0.92691	3.335	0.80722	D	1	D;P;D;P	0.89917	1.0;0.912;0.998;0.825	D;B;P;B	0.71656	0.974;0.321;0.845;0.207	D	0.94746	0.7923	10	0.87932	D	0	.	13.5022	0.61462	0.0:1.0:0.0:0.0	.	543;591;185;591	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	V	591;446;543;37	ENSP00000264932:A591V;ENSP00000427703:A543V;ENSP00000421911:A37V	ENSP00000264932:A591V	A	+	2	0	0	SDHA	304561	304561	1.000000	0.71417	0.018000	0.16275	0.025000	0.11179	5.353000	0.66034	1.853000	0.53794	0.305000	0.20034	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_004168			47	47		192	187	1		1	1		0	0	39	0		1	1	0	227	0	452	0	47	192
AHRR	57491	broad.mit.edu	37	5	427974	427974	+	Missense_Mutation	SNP	C	C	T	rs373499533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000505113.1	+	8	817	c.773C>T	c.(772-774)gCg>gTg	p.A258V	AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000316418.5_Missense_Mutation_p.A276V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	258					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562																																						ENST00000505113.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(772-774)gCg>gTg		aryl-hydrocarbon receptor repressor			VAL/ALA,VAL/ALA	1,3741		0,1,1870	27.0	31.0	29.0		773,827	4.9	0.8	5		29	0,8202		0,0,4101	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,1,5971	TT,TC,CC		0.0,0.0267,0.0084	possibly-damaging,possibly-damaging	258/702,276/720	427974	1,11943	1871	4101	5972	SO:0001583	missense	57491	8	120808	37				g.chr5:427974C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.773C>T	chr5.hg19:g.427974C>T	ENSP00000424601:p.Ala258Val	0					AHRR_ENST00000316418.5_Missense_Mutation_p.A276V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000506456.1_Missense_Mutation_p.A114V	p.A258V	NM_001242412.1	NP_001229341.1	0	0	0	1.967783	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)	8	817	+			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	1	1	hg19	c.773C>T	CCDS56355.1	1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.168850	0.57584	2.67E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23950	2.2;2.2;1.88;1.88	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.471757	0.24341	N	0.039375	T	0.40694	0.1127	M	0.64170	1.965	0.29623	N	0.846065	D;B;P	0.64830	0.994;0.443;0.884	P;B;B	0.53649	0.731;0.085;0.165	T	0.40079	-0.9582	10	0.59425	D	0.04	.	15.5229	0.75877	0.0:1.0:0.0:0.0	.	114;258;276	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	258;276;104;114	ENSP00000424601:A258V;ENSP00000323816:A276V;ENSP00000424880:A104V;ENSP00000426932:A114V	ENSP00000323816:A276V	A	+	2	0	0	AHRR	480974	480974	1.000000	0.71417	0.790000	0.31976	0.452000	0.32318	5.258000	0.65479	2.244000	0.73946	0.580000	0.79431	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020731			51	50		230	225	1		1	0		0	0	44	0		1	1.575144e-01	0	0	0	4	0	51	230
AHRR	57491	broad.mit.edu	37	5	434085	434085	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000505113.1	+	11	1286	c.1242T>C	c.(1240-1242)gaT>gaC	p.D414D	AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000316418.5_Silent_p.D432D	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	414					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682																																						ENST00000505113.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(1240-1242)gaT>gaC		aryl-hydrocarbon receptor repressor							36.0	48.0	44.0					5																	434085		2165	4239	6404	SO:0001819	synonymous_variant	57491	0	0					g.chr5:434085T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1242T>C	chr5.hg19:g.434085T>C		0					AHRR_ENST00000316418.5_Silent_p.D432D|AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000506456.1_Silent_p.D270D	p.D414D	NM_001242412.1	NP_001229341.1	0	0	0	1.967783	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)	11	1286	+			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	1	1	hg19	c.1242T>C	CCDS56355.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_020731			38	38		165	161	1		1	0		0	0	30	0		1	0	0	0	0	1	0	38	165
EXOC3	11336	broad.mit.edu	37	5	446344	446344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000512944.1	+	2	213	c.24C>T	c.(22-24)gcC>gcT	p.A8A	EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Silent_p.A8A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	19					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582																																						ENST00000512944.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999148	0.990000	1.000000																										0				23						c.(22-24)gcC>gcT		exocyst complex component 3							82.0	85.0	84.0					5																	446344		2011	4172	6183	SO:0001819	synonymous_variant	11336	7	120942	39				g.chr5:446344C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.24C>T	chr5.hg19:g.446344C>T		0					EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Silent_p.A8A	p.A8A	NM_007277.4	NP_009208.2	0	0	0	1.967783	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)	2	213	+		Ovarian(839;0.0563)	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	1	1	hg19	c.24C>T	CCDS54830.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.075767	1	0.170000	NM_007277			44	44		324	317	1		1	1		0	0	76	0		1	9.990473e-01	0	27	0	52	0	44	324
EXOC3	11336	broad.mit.edu	37	5	453694	453694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	203					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567																																						ENST00000512944.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(574-576)Tgg>Cgg		exocyst complex component 3							79.0	80.0	79.0					5																	453694		2056	4198	6254	SO:0001583	missense	11336	0	0					g.chr5:453694T>C	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.574T>C	chr5.hg19:g.453694T>C	ENSP00000425587:p.Trp192Arg	0					EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	p.W192R	NM_007277.4	NP_009208.2	0	0	0	1.967783	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)	4	763	+		Ovarian(839;0.0563)	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	1	1	hg19	c.574T>C	CCDS54830.1	1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151108	0.38021	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06849	3.25;3.25	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.46885	1.475	0.80722	D	1	P	0.35481	0.504	P	0.47786	0.557	T	0.14117	-1.0484	10	0.19590	T	0.45	-21.2894	13.6941	0.62567	0.0:0.0:0.0:1.0	.	203	O60645	EXOC3_HUMAN	R	192;192;202	ENSP00000425587:W192R;ENSP00000323377:W192R	ENSP00000323377:W192R	W	+	1	0	0	EXOC3	506694	506694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.134000	0.65973	0.459000	0.35465	TGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	1	0	1		2	2	2	0		0	0	78		78	75	1	2.060000	-20.000000	1	0.170000	NM_007277			62	61		298	294	1		1	1		0	0	78	0		1	1	0	33	0	112	0	62	298
SLC9A3	6550	broad.mit.edu	37	5	485298	485298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	242					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGCCAGTCACGTTGTCACCT	0.607																																						ENST00000264938.3	0.630000	0.190000	5.100000e-01	2.700000e-01	0.370000	0.396394	0.370000	0.360000																										0				37						c.(724-726)Gtg>Atg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							198.0	159.0	173.0					5																	485298		2202	4300	6502	SO:0001583	missense	6550	0	0					g.chr5:485298C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.724G>A	chr5.hg19:g.485298C>T	ENSP00000264938:p.Val242Met	0					SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	p.V242M	NM_004174.2	NP_004165.2	0	0	0	1.967783	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)	4	733	-			B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	1	1	hg19	c.724G>A	CCDS3855.1	0	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057595	0.36277	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15487	2.42;2.42	4.15	4.15	0.48705	4.15	4.15	0.48705	Cation/H+ exchanger (1);	0.277476	0.34750	N	0.003714	T	0.34077	0.0885	M	0.64170	1.965	0.33732	D	0.618384	D;D	0.69078	0.996;0.997	D;D	0.64042	0.921;0.911	T	0.51044	-0.8755	10	0.87932	D	0	.	11.1548	0.48480	0.0:0.9076:0.0:0.0924	.	242;242	E9PF67;P48764	.;SL9A3_HUMAN	M	242	ENSP00000264938:V242M;ENSP00000422983:V242M	ENSP00000264938:V242M	V	-	1	0	0	SLC9A3	538298	538298	0.948000	0.32251	0.858000	0.33744	0.017000	0.09413	1.942000	0.40243	2.032000	0.59987	0.561000	0.74099	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.777894	1	0.170000	NM_004174			10	10		304	302	0		1	1		0	0	81	0		9.969043e-01	1.771497e-02	0	2	0	4	0	10	304
CEP72	55722	broad.mit.edu	37	5	619199	619199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:619199G>A	ENST00000264935.5	+	2	267	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CEP72_ENST00000444221.1_Silent_p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	59					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)				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)			TGAAATCTTTGGATCTCTCGC	0.418																																						ENST00000264935.5	0.300000	0.090000	2.400000e-01	1.200000e-01	0.170000	0.186747	0.170000	0.170000																										0				20						c.(175-177)ttG>ttA		centrosomal protein 72kDa							167.0	162.0	164.0					5																	619199		2203	4300	6503	SO:0001819	synonymous_variant	55722	0	0					g.chr5:619199G>A	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.177G>A	chr5.hg19:g.619199G>A		0					CEP72_ENST00000444221.1_Silent_p.L59L	p.L59L	NM_018140.3	NP_060610.2	0	0	0	1.967783	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)	2	267	+			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	0	1	hg19	c.177G>A	CCDS34126.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	0		2	2	2	0		0	0	101		101	101	1	2.060000	-2.320898	0	0.170000	NM_018140			11	11		726	715	0		1	1		0	0	101	0		9.981977e-01	7.348130e-02	0	3	0	24	0	11	726
CEP72	55722	broad.mit.edu	37	5	639260	639260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	421					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)				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)			TGCAGGCGGCGCTCCTGGAGA	0.642																																						ENST00000264935.5	0.700000	0.290000	5.900000e-01	3.700000e-01	0.470000	0.488647	0.470000	0.470000																										0				20						c.(1261-1263)gcG>gcA		centrosomal protein 72kDa							36.0	43.0	41.0					5																	639260		2203	4300	6503	SO:0001819	synonymous_variant	55722	0	0					g.chr5:639260G>A	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.1263G>A	chr5.hg19:g.639260G>A		0					CEP72_ENST00000444221.1_3'UTR	p.A421A	NM_018140.3	NP_060610.2	0	0	0	1.967783	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)	8	1353	+			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	1	1	hg19	c.1263G>A	CCDS34126.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-17.570910	1	0.170000	NM_018140			18	18		425	420	0		1	0		0	0	63	0		9.999810e-01	1.496188e-01	0	1	0	15	0	18	425
CEP72	55722	broad.mit.edu	37	5	653215	653215	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	631					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)				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)			CAAGAAGACCATGGCCCTGTT	0.612																																						ENST00000264935.5	1.000000	0.960000	1	9.900000e-01	0.990000	0.997345	0.990000	1.000000																										0				20						c.(1891-1893)Atg>Gtg		centrosomal protein 72kDa							65.0	58.0	60.0					5																	653215		2203	4300	6503	SO:0001583	missense	55722	0	0					g.chr5:653215A>G	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.1891A>G	chr5.hg19:g.653215A>G	ENSP00000264935:p.Met631Val	0					CEP72_ENST00000444221.1_3'UTR	p.M631V	NM_018140.3	NP_060610.2	0	0	0	1.967783	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)	12	1981	+			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	1	1	hg19	c.1891A>G	CCDS34126.1	1	.	.	.	.	.	.	.	.	.	.	A	1.946	-0.442362	0.04604	.	.	ENSG00000112877	ENST00000264935	T	0.09445	2.98	4.94	-5.89	0.02282	4.94	-5.89	0.02282	.	0.697067	0.13278	N	0.400000	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	10	0.30078	T	0.28	-4.3171	6.7257	0.23355	0.2447:0.4177:0.3375:0.0	.	631	Q9P209	CEP72_HUMAN	V	631	ENSP00000264935:M631V	ENSP00000264935:M631V	M	+	1	0	0	CEP72	706215	706215	0.000000	0.05858	0.068000	0.19968	0.061000	0.15899	-1.330000	0.02675	-1.005000	0.03417	-0.425000	0.05940	ATG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_018140			26	26		183	179	1		1	1		0	0	45	0		9.999999e-01	9.565154e-01	0	14	0	25	0	26	183
TPPP	11076	broad.mit.edu	37	5	677962	677962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	72	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642																																						ENST00000360578.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(214-216)Cac>Tac		tubulin polymerization promoting protein							129.0	86.0	101.0					5																	677962		2202	4300	6502	SO:0001583	missense	11076	0	0					g.chr5:677962G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.214C>T	chr5.hg19:g.677962G>A	ENSP00000353785:p.His72Tyr	0					CTD-2589H19.6_ENST00000607068.1_RNA	p.H72Y	NM_007030.2	NP_008961.1	0	0	0	1.967783	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	2	335	-		Ovarian(839;0.0563)		Missense_Mutation	SNP	ENST00000360578.5	1	1	hg19	c.214C>T	CCDS3856.1	1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350887	0.61183	.	.	ENSG00000171368	ENST00000360578	T	0.42900	0.96	5.32	5.32	0.75619	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.51422	1.61	0.47862	D	0.999536	D	0.61697	0.99	P	0.62491	0.903	T	0.54820	-0.8236	10	0.54805	T	0.06	-32.1368	13.5508	0.61730	0.0:0.0:0.844:0.156	.	72	O94811	TPPP_HUMAN	Y	72	ENSP00000353785:H72Y	ENSP00000353785:H72Y	H	-	1	0	0	TPPP	730962	730962	1.000000	0.71417	0.999000	0.59377	0.302000	0.27658	2.600000	0.46240	2.485000	0.83878	0.561000	0.74099	CAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_007030			74	74		277	272	1		1	1		0	0	69	0		1	8.780820e-01	0	7	0	8	0	74	277
TPPP	11076	broad.mit.edu	37	5	678080	678080	+	Silent	SNP	C	C	T	rs549762776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		15944	0.0		0.0	False		,,,				2504	0.001					ENST00000360578.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998068	0.990000	1.000000																										0				5						c.(94-96)tcG>tcA		tubulin polymerization promoting protein							15.0	19.0	18.0					5																	678080		2198	4296	6494	SO:0001819	synonymous_variant	11076	22	121050	38				g.chr5:678080C>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.96G>A	chr5.hg19:g.678080C>T		0					CTD-2589H19.6_ENST00000607068.1_RNA	p.S32S	NM_007030.2	NP_008961.1	0	0	0	1.967783	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	2	217	-		Ovarian(839;0.0563)		Silent	SNP	ENST00000360578.5	0	1	hg19	c.96G>A	CCDS3856.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-11.792690	1	0.170000	NM_007030			21	20		132	131	1		1	1		0	0	22	0		9.999983e-01	1.014853e-01	0	4	0	0	0	21	132
IRX2	153572	broad.mit.edu	37	5	2747723	2747723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1369-1371)agC>agT		iroquois homeobox 2							43.0	40.0	41.0					5																	2747723		2203	4300	6503	SO:0001819	synonymous_variant	153572	0	0					g.chr5:2747723G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1371C>T	chr5.hg19:g.2747723G>A		0					IRX2_ENST00000302057.5_Silent_p.S457S|IRX2_ENST00000502957.1_5'Flank	p.S457S	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		4	1619	-			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	1	1	hg19	c.1371C>T	CCDS3868.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				65	65		180	177	1		1	0		0	0	37	0		1	5.048334e-01	0	0	0	6	0	65	180
IRX2	153572	broad.mit.edu	37	5	2748989	2748989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	ENST00000382611.6	-	3	1081	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	278					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTGGGCGGCGCCAGGCCCCG	0.746																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999929	0.990000	1.000000																										0				26						c.(832-834)gCg>gTg		iroquois homeobox 2							10.0	11.0	11.0					5																	2748989		2159	4215	6374	SO:0001583	missense	153572	0	0					g.chr5:2748989G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.833C>T	chr5.hg19:g.2748989G>A	ENSP00000372056:p.Ala278Val	0					IRX2_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	p.A278V	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		3	1081	-			Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	1	1	hg19	c.833C>T	CCDS3868.1	1	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142597	0.09083	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.65178	-0.14;-0.14;-0.07	4.51	-1.28	0.09318	4.51	-1.28	0.09318	.	0.598049	0.18305	N	0.145282	T	0.34600	0.0903	N	0.12182	0.205	0.27280	N	0.95812	B	0.02656	0.0	B	0.04013	0.001	T	0.14671	-1.0464	10	0.21014	T	0.42	-4.7565	6.5074	0.22202	0.2142:0.2378:0.548:0.0	.	278	Q9BZI1	IRX2_HUMAN	V	278;278;185	ENSP00000372056:A278V;ENSP00000307006:A278V;ENSP00000426151:A185V	ENSP00000307006:A278V	A	-	2	0	0	IRX2	2801989	2801989	0.484000	0.25964	0.614000	0.29051	0.660000	0.38997	0.406000	0.21032	-0.164000	0.10927	-0.244000	0.11960	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				24	23		109	109	0		1			0	0	17	0		9.999998e-01	0	0	0	0	0	0	24	109
IRX2	153572	broad.mit.edu	37	5	2749012	2749012	+	Silent	SNP	G	G	A	rs183565355		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	ENST00000382611.6	-	3	1058	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	270					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCCTCCTCGTCGTCGTCCT	0.731																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999920	0.990000	1.000000																										0				26						c.(808-810)gaC>gaT		iroquois homeobox 2																																				SO:0001819	synonymous_variant	153572	0	0					g.chr5:2749012G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.810C>T	chr5.hg19:g.2749012G>A		0					IRX2_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	p.D270D	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		3	1058	-			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	1	1	hg19	c.810C>T	CCDS3868.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000				25	25		119	119	0		1	0		0	0	19	0		9.999999e-01	1.503616e-01	0	0	0	4	0	25	119
IRX2	153572	broad.mit.edu	37	5	2749024	2749024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	ENST00000382611.6	-	3	1046	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	266					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCCTCGTCGTCCTCCA	0.726																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999364	0.990000	1.000000																										0				26						c.(796-798)gaC>gaT		iroquois homeobox 2							17.0	17.0	17.0					5																	2749024		2189	4276	6465	SO:0001819	synonymous_variant	153572	0	0					g.chr5:2749024G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.798C>T	chr5.hg19:g.2749024G>A		0					IRX2_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	p.D266D	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		3	1046	-			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	1	1	hg19	c.798C>T	CCDS3868.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				23	22		132	132	0		1	0		0	0	23	0		9.999996e-01	2.921116e-01	0	0	0	7	0	23	132
IRX2	153572	broad.mit.edu	37	5	2749548	2749548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000382611.6	-	2	851	c.603C>T	c.(601-603)gaC>gaT	p.D201D	IRX2_ENST00000302057.5_Silent_p.D201D|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	201					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(601-603)gaC>gaT		iroquois homeobox 2							101.0	93.0	96.0					5																	2749548		2203	4300	6503	SO:0001819	synonymous_variant	153572	0	0					g.chr5:2749548G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.603C>T	chr5.hg19:g.2749548G>A		0					C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Silent_p.D201D|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	p.D201D	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		2	851	-			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	1	1	hg19	c.603C>T	CCDS3868.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000				56	54		284	277	1		1	0		0	0	62	0		1	5.129706e-01	0	0	0	10	0	56	284
IRX2	153572	broad.mit.edu	37	5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000382611.6	-	2	784	c.536C>T	c.(535-537)aCc>aTc	p.T179I	IRX2_ENST00000302057.5_Missense_Mutation_p.T179I|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Complex - compound substitution(1)	p.T179>I(1)	skin(1)	26						c.(535-537)aCc>aTc		iroquois homeobox 2							141.0	133.0	135.0					5																	2749615		2203	4300	6503	SO:0001583	missense	153572	2	121412	35				g.chr5:2749615G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.536C>T	chr5.hg19:g.2749615G>A	ENSP00000372056:p.Thr179Ile	0					C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	p.T179I	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		2	784	-			Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	1	1	hg19	c.536C>T	CCDS3868.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026629	0.93518	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92552	0.6051	10	0.87932	D	0	-29.3434	17.9697	0.89110	0.0:0.0:1.0:0.0	.	179	Q9BZI1	IRX2_HUMAN	I	179;179;86	ENSP00000372056:T179I;ENSP00000307006:T179I;ENSP00000426151:T86I	ENSP00000307006:T179I	T	-	2	0	0	IRX2	2802615	2802615	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.367000	0.97148	2.239000	0.73571	0.655000	0.94253	ACC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0		2	2	2	0		0	0	109		109	106	1	2.060000	-20.000000	1	0.170000				103	103		441	430	1		1	0		0	0	109	0		1	8.058037e-01	0	0	0	15	0	103	441
IRX2	153572	broad.mit.edu	37	5	2749890	2749890	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000382611.6	-	2	509	c.261C>T	c.(259-261)taC>taT	p.Y87Y	IRX2_ENST00000302057.5_Silent_p.Y87Y|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	87					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692																																						ENST00000382611.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				26						c.(259-261)taC>taT		iroquois homeobox 2							47.0	52.0	50.0					5																	2749890		2203	4299	6502	SO:0001819	synonymous_variant	153572	0	0					g.chr5:2749890G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.261C>T	chr5.hg19:g.2749890G>A		0					C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Silent_p.Y87Y|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	p.Y87Y	NM_001134222.1	NP_001127694.1	0	0	0	1.967783	Q9BZI1	IRX2_HUMAN		2	509	-			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	1	1	hg19	c.261C>T	CCDS3868.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				44	42		281	278	1		1			0	0	54	1		1	0	0	0	0	0	0	44	281
C5orf38	153571	broad.mit.edu	37	5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000334000.3	+	1	259	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000382611.6_5'Flank|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	48						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711																																						ENST00000334000.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				4						c.(142-144)Gcc>Acc		chromosome 5 open reading frame 38							14.0	16.0	15.0					5																	2752520		2202	4295	6497	SO:0001583	missense	153571	0	0					g.chr5:2752520G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.142G>A	chr5.hg19:g.2752520G>A	ENSP00000334267:p.Ala48Thr	0					C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T	p.A48T	NM_178569.2	NP_848664.1	0	0	0	1.967783	Q86SI9	CEI_HUMAN		1	259	+				Missense_Mutation	SNP	ENST00000334000.3	1	1	hg19	c.142G>A	CCDS34131.1	1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.078884	0.01903	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	-2.6	0.06190	2.24	-2.6	0.06190	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.42871	0.792	B	0.38225	0.268	T	0.15578	-1.0432	8	0.87932	D	0	.	6.613	0.22761	0.0:0.1469:0.3988:0.4543	.	48	Q86SI9	CEI_HUMAN	T	48	.	ENSP00000334267:A48T	A	+	1	0	0	C5orf38	2805520	2805520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-1.262000	0.02459	-2.048000	0.00412	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_178569			20	20		66	63	0		1	0		0	0	14	0		9.999974e-01	3.437050e-01	0	0	0	5	0	20	66
IRX1	79192	broad.mit.edu	37	5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	159					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637																																						ENST00000302006.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(475-477)gaG>gaT		iroquois homeobox 1							162.0	126.0	138.0					5																	3599539		2203	4298	6501	SO:0001583	missense	79192	0	0					g.chr5:3599539G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.477G>T	chr5.hg19:g.3599539G>T	ENSP00000305244:p.Glu159Asp	0					CTD-2012M11.3_ENST00000559410.1_RNA	p.E159D	NM_024337.3	NP_077313.3	0	0	0	1.967783	P78414	IRX1_HUMAN		2	529	+			Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	1	1	hg19	c.477G>T	CCDS34132.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015539	0.93404	.	.	ENSG00000170549	ENST00000302006	D	0.85702	-2.02	4.81	4.81	0.61882	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89451	0.3730	10	0.46703	T	0.11	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	159	P78414	IRX1_HUMAN	D	159	ENSP00000305244:E159D	ENSP00000305244:E159D	E	+	3	2	2	IRX1	3652539	3652539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.478000	0.73596	2.173000	0.68751	0.655000	0.94253	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-20.000000	1	0.170000	NM_024337			85	85		500	494	1		1			0	0	125	0		1	0	0	0	0	0	0	85	500
IRX1	79192	broad.mit.edu	37	5	3599698	3599698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627																																						ENST00000302006.3	0.820000	0.300000	6.800000e-01	4.000000e-01	0.520000	0.547182	0.520000	0.510000																										0				43						c.(634-636)ggC>ggT		iroquois homeobox 1							66.0	60.0	62.0					5																	3599698		2203	4300	6503	SO:0001819	synonymous_variant	79192	1	121408	31				g.chr5:3599698C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	chr5.hg19:g.3599698C>T		0					CTD-2012M11.3_ENST00000559410.1_RNA	p.G212G	NM_024337.3	NP_077313.3	0	0	0	1.967783	P78414	IRX1_HUMAN		2	688	+			Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	1	1	hg19	c.636C>T	CCDS34132.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-15.376280	1	0.170000	NM_024337			14	13		296	291	0		1			0	0	56	0		9.997317e-01	0	0	0	0	0	0	14	296
IRX1	79192	broad.mit.edu	37	5	3600167	3600167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	ENST00000302006.3	+	2	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	369					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGCCACATCGGCAAGTTCTC	0.711																																						ENST00000302006.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997022	0.990000	1.000000																										0				43						c.(1105-1107)Ggc>Agc		iroquois homeobox 1																																				SO:0001583	missense	79192	0	0					g.chr5:3600167G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1105G>A	chr5.hg19:g.3600167G>A	ENSP00000305244:p.Gly369Ser	0					CTD-2012M11.3_ENST00000559410.1_RNA	p.G369S	NM_024337.3	NP_077313.3	0	0	0	1.967783	P78414	IRX1_HUMAN		2	1157	+			Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	0	1	hg19	c.1105G>A	CCDS34132.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007181	0.75046	.	.	ENSG00000170549	ENST00000302006	T	0.69561	-0.41	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	L	0.60455	1.87	0.58432	D	0.999999	D	0.69078	0.997	P	0.51016	0.656	T	0.70842	-0.4762	10	0.30854	T	0.27	.	17.2481	0.87034	0.0:0.0:1.0:0.0	.	369	P78414	IRX1_HUMAN	S	369	ENSP00000305244:G369S	ENSP00000305244:G369S	G	+	1	0	0	IRX1	3653167	3653167	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.329000	0.79170	2.018000	0.59344	0.563000	0.77884	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_024337			16	16		94	93	0		1			0	0	16	0		9.999533e-01	0	0	0	0	0	0	16	94
IRX1	79192	broad.mit.edu	37	5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	443					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617																																						ENST00000302006.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(1327-1329)cCc>cTc		iroquois homeobox 1							56.0	60.0	59.0					5																	3600738		2203	4300	6503	SO:0001583	missense	79192	0	0					g.chr5:3600738C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1328C>T	chr5.hg19:g.3600738C>T	ENSP00000305244:p.Pro443Leu	0					CTD-2012M11.3_ENST00000559410.1_RNA	p.P443L	NM_024337.3	NP_077313.3	0	0	0	1.967783	P78414	IRX1_HUMAN		3	1380	+			Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	1	1	hg19	c.1328C>T	CCDS34132.1	1	.	.	.	.	.	.	.	.	.	.	C	6.284	0.420504	0.11928	.	.	ENSG00000170549	ENST00000302006	T	0.56941	0.43	4.17	3.3	0.37823	4.17	3.3	0.37823	.	0.611325	0.15458	N	0.261247	T	0.37919	0.1021	N	0.22421	0.69	0.40193	D	0.977423	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.33940	T	0.23	.	11.74	0.51788	0.0:0.9124:0.0:0.0876	.	443	P78414	IRX1_HUMAN	L	443	ENSP00000305244:P443L	ENSP00000305244:P443L	P	+	2	0	0	IRX1	3653738	3653738	1.000000	0.71417	0.397000	0.26308	0.201000	0.24016	2.611000	0.46334	0.729000	0.32403	0.467000	0.42956	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-2.807378	1	0.170000	NM_024337			69	68		407	402	0		1			0	0	100	0		1	0	0	0	0	0	0	69	407
ADAMTS16	170690	broad.mit.edu	37	5	5232600	5232600	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	607	TSP type-1 1. {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)			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						GGGGAGTATCTCATAGGAGTC	0.557																																						ENST00000274181.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(1819-1821)tcT>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							99.0	113.0	108.0					5																	5232600		2170	4268	6438	SO:0001819	synonymous_variant	170690	0	0					g.chr5:5232600T>A	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.1821T>A	chr5.hg19:g.5232600T>A		0						p.S607S	NM_139056.2	NP_620687.2	0	0	0	1.967783	Q8TE57	ATS16_HUMAN		12	1959	+			C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	1	1	hg19	c.1821T>A	CCDS43299.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_139056			100	97		475	458	1		1			0	0	97	0		1	0	0	0	0	0	0	100	475
ADAMTS16	170690	broad.mit.edu	37	5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	753	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						GGTCTCTACACCAAGCACCAC	0.512																																						ENST00000274181.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(2257-2259)aCc>aTc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							172.0	171.0	171.0					5																	5239367		2063	4214	6277	SO:0001583	missense	170690	0	0					g.chr5:5239367C>T	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.2258C>T	chr5.hg19:g.5239367C>T	ENSP00000274181:p.Thr753Ile	0						p.T753I	NM_139056.2	NP_620687.2	0	0	0	1.967783	Q8TE57	ATS16_HUMAN		15	2396	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.2258C>T	CCDS43299.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612653	0.28712	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54279	0.58	5.85	4.01	0.46588	5.85	4.01	0.46588	ADAM-TS Spacer 1 (1);	0.278678	0.32624	N	0.005843	T	0.56630	0.1998	M	0.73962	2.25	0.19300	N	0.99998	B;B	0.32653	0.379;0.257	B;B	0.35813	0.197;0.211	T	0.53308	-0.8457	10	0.52906	T	0.07	.	15.354	0.74412	0.0:0.7418:0.2582:0.0	.	753;753	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	753	ENSP00000274181:T753I	ENSP00000274181:T753I	T	+	2	0	0	ADAMTS16	5292367	5292367	0.959000	0.32827	0.001000	0.08648	0.356000	0.29392	1.085000	0.30840	0.754000	0.32968	0.655000	0.94253	ACC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_139056			145	143		479	465	1		1	0		0	0	124	0		1	0	0	0	0	1	0	145	479
ADAMTS16	170690	broad.mit.edu	37	5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C	rs200073500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1087	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)			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						TTCTGGAAAGTATCGAGAGCT	0.488																																						ENST00000274181.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3259-3261)Tat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 16							84.0	84.0	84.0					5																	5306689		1918	4121	6039	SO:0001583	missense	170690	20	120882	46				g.chr5:5306689T>C	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.3259T>C	chr5.hg19:g.5306689T>C	ENSP00000274181:p.Tyr1087His	0						p.Y1087H	NM_139056.2	NP_620687.2	0	0	0	1.967783	Q8TE57	ATS16_HUMAN		21	3397	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.3259T>C	CCDS43299.1	1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871652	0.33069	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	4.36	0.52297	5.51	4.36	0.52297	.	0.073859	0.56097	D	0.000031	T	0.66177	0.2763	M	0.61703	1.905	0.40458	D	0.980219	D	0.76494	0.999	D	0.70487	0.969	T	0.64045	-0.6499	10	0.15066	T	0.55	.	7.8219	0.29292	0.0:0.0933:0.0:0.9067	.	1087	Q8TE57	ATS16_HUMAN	H	1087	ENSP00000274181:Y1087H	ENSP00000274181:Y1087H	Y	+	1	0	0	ADAMTS16	5359689	5359689	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	5.836000	0.69375	0.952000	0.37798	0.459000	0.35465	TAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	0		23	2	2	1		1	1	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_139056			97	97		373	366	1		1	0		1	0	94	0		1	1.120343e-01	0	0	0	3	0	97	373
ADAMTS16	170690	broad.mit.edu	37	5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1095	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)			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						TCAAAGAAGTGCTCACATTTG	0.542																																						ENST00000274181.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3283-3285)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							67.0	68.0	68.0					5																	5306714		1935	4137	6072	SO:0001583	missense	170690	0	0					g.chr5:5306714G>A	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.3284G>A	chr5.hg19:g.5306714G>A	ENSP00000274181:p.Cys1095Tyr	0						p.C1095Y	NM_139056.2	NP_620687.2	0	0	0	1.967783	Q8TE57	ATS16_HUMAN		21	3422	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.3284G>A	CCDS43299.1	1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030328	0.35797	.	.	ENSG00000145536	ENST00000274181	T	0.72835	-0.69	5.51	4.61	0.57282	5.51	4.61	0.57282	.	0.115575	0.64402	D	0.000013	T	0.76478	0.3993	M	0.90870	3.155	0.49130	D	0.999753	B	0.15141	0.012	B	0.21917	0.037	T	0.76310	-0.3006	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1095	Q8TE57	ATS16_HUMAN	Y	1095	ENSP00000274181:C1095Y	ENSP00000274181:C1095Y	C	+	2	0	0	ADAMTS16	5359714	5359714	1.000000	0.71417	0.921000	0.36526	0.117000	0.20001	7.121000	0.77160	1.262000	0.44165	0.561000	0.74099	TGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_139056			74	74		280	272	1		1	0		0	0	70	0		1	4.484940e-02	0	0	0	2	0	74	280
ICE1	23379	broad.mit.edu	37	5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		439					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)			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						TAAAGTGACAACTTCTGGACT	0.433																																						ENST00000296564.7	1.000000	0.440000	1	6.300000e-01	0.870000	0.836513	0.870000	1.000000																										0				35						c.(1315-1317)Act>Tct									63.0	61.0	62.0					5																	5460762		1955	4149	6104	SO:0001583	missense	0	0	0					g.chr5:5460762A>T																												ENST00000296564.7:c.1315A>T	chr5.hg19:g.5460762A>T	ENSP00000296564:p.Thr439Ser	0						p.T439S	NM_015325.2	NP_056140.1	0	0	0	1.967783	Q9Y2F5	ICE1_HUMAN		13	1537	+			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	1	1	hg19	c.1315A>T	CCDS47187.1	1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025657	0.19512	.	.	ENSG00000164151	ENST00000296564	T	0.42900	0.96	4.04	-8.09	0.01090	4.04	-8.09	0.01090	.	1.297730	0.05004	N	0.469731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.24621	-1.0155	10	0.06236	T	0.91	-3.1643	7.2261	0.26016	0.2062:0.4113:0.3824:0.0	.	439	Q9Y2F5	K0947_HUMAN	S	439	ENSP00000296564:T439S	ENSP00000296564:T439S	T	+	1	0	0	KIAA0947	5513762	5513762	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.578000	0.00425	-1.119000	0.02958	0.254000	0.18369	ACT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-5.758255	1	0.170000				9	8		111	108	1		1	1		0	0	36	0		9.939174e-01	7.668146e-01	0	6	0	30	0	9	111
ICE1	23379	broad.mit.edu	37	5	5463617	5463617	+	Silent	SNP	C	C	T	rs542440431		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1390					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)			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						ACTGCGAGGCCGAAACAACAT	0.453																																						ENST00000296564.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999649	0.990000	1.000000																										0				35						c.(4168-4170)gcC>gcT									32.0	33.0	33.0					5																	5463617		1997	4167	6164	SO:0001819	synonymous_variant	0	5	120908	33				g.chr5:5463617C>T																												ENST00000296564.7:c.4170C>T	chr5.hg19:g.5463617C>T		0						p.A1390A	NM_015325.2	NP_056140.1	0	0	0	1.967783	Q9Y2F5	ICE1_HUMAN		13	4392	+			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	1	1	hg19	c.4170C>T	CCDS47187.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				17	17		72	68	1		1	1		0	0	17	0		9.999728e-01	9.994457e-01	0	19	0	39	0	17	72
ICE1	23379	broad.mit.edu	37	5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1509					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)			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						TGATAAGAGTCGTTTGCGAAA	0.428																																						ENST00000296564.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(4525-4527)Cgt>Tgt									51.0	49.0	49.0					5																	5463972		1908	4117	6025	SO:0001583	missense	0	0	0					g.chr5:5463972C>T																												ENST00000296564.7:c.4525C>T	chr5.hg19:g.5463972C>T	ENSP00000296564:p.Arg1509Cys	0						p.R1509C	NM_015325.2	NP_056140.1	0	0	0	1.967783	Q9Y2F5	ICE1_HUMAN		13	4747	+			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	1	1	hg19	c.4525C>T	CCDS47187.1	1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527259	0.64860	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	5.38	3.42	0.39159	5.38	3.42	0.39159	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.26004	N	0.982075	P	0.40534	0.72	B	0.34873	0.191	T	0.13361	-1.0512	9	0.37606	T	0.19	-10.3331	5.3434	0.15996	0.2153:0.6816:0.0:0.1031	.	1509	Q9Y2F5	K0947_HUMAN	C	1509	ENSP00000296564:R1509C	ENSP00000296564:R1509C	R	+	1	0	0	KIAA0947	5516972	5516972	0.000000	0.05858	0.578000	0.28575	0.986000	0.74619	0.450000	0.21762	2.524000	0.85096	0.460000	0.39030	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-19.977200	1	0.170000				35	35		150	148	1		1	1		0	0	48	0		1	9.999665e-01	0	17	0	55	0	35	150
ICE1	23379	broad.mit.edu	37	5	5464772	5464772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1775					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)			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						ATATTCAACTCACACGAGGTC	0.483																																						ENST00000296564.7	1.000000	0.820000	1	9.900000e-01	0.990000	0.988315	0.990000	1.000000																										0				35						c.(5323-5325)ctC>ctT									35.0	35.0	35.0					5																	5464772		1909	4116	6025	SO:0001819	synonymous_variant	0	0	0					g.chr5:5464772C>T																												ENST00000296564.7:c.5325C>T	chr5.hg19:g.5464772C>T		0						p.L1775L	NM_015325.2	NP_056140.1	0	0	0	1.967783	Q9Y2F5	ICE1_HUMAN		13	5547	+			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	1	1	hg19	c.5325C>T	CCDS47187.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.999870	1	0.170000				15	15		108	105	1		1	1		0	0	26	0		9.998878e-01	9.988442e-01	0	12	0	74	0	15	108
ICE1	23379	broad.mit.edu	37	5	5489440	5489440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2266					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)			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						AGGAGCTTGGCTGACCTGGGA	0.498																																						ENST00000296564.7	1.000000	0.980000	1	9.900000e-01	0.990000	0.997213	0.990000	1.000000																										0				35						c.(6796-6798)ggC>ggT									35.0	37.0	36.0					5																	5489440		2059	4207	6266	SO:0001819	synonymous_variant	0	0	0					g.chr5:5489440C>T																												ENST00000296564.7:c.6798C>T	chr5.hg19:g.5489440C>T		0						p.G2266G	NM_015325.2	NP_056140.1	0	0	0	1.967783	Q9Y2F5	ICE1_HUMAN		19	7020	+			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	1	1	hg19	c.6798C>T	CCDS47187.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.999960	1	0.170000				14	14		75	73	1		1	1		0	0	17	0		9.998096e-01	9.999334e-01	0	27	0	73	0	14	75
MED10	84246	broad.mit.edu	37	5	6372625	6372625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	133					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522																																						ENST00000255764.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996279	0.990000	1.000000																										0				5						c.(397-399)ccG>ccA		mediator complex subunit 10							110.0	109.0	110.0					5																	6372625		2203	4300	6503	SO:0001819	synonymous_variant	84246	3	121412	35				g.chr5:6372625C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.399G>A	chr5.hg19:g.6372625C>T		0						p.P133P	NM_032286.2	NP_115662.2	0	0	0	1.967783	Q9BTT4	MED10_HUMAN		4	509	-			C6G491	Silent	SNP	ENST00000255764.3	1	1	hg19	c.399G>A	CCDS34134.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.221886	1	0.170000	NM_032286			39	39		312	306	1		1	1		0	0	90	0		1	1	0	46	0	182	0	39	312
MED10	84246	broad.mit.edu	37	5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	32					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647																																						ENST00000255764.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(94-96)aGc>aAc		mediator complex subunit 10							65.0	57.0	59.0					5																	6378502		2203	4300	6503	SO:0001583	missense	84246	0	0					g.chr5:6378502C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.95G>A	chr5.hg19:g.6378502C>T	ENSP00000255764:p.Ser32Asn	0						p.S32N	NM_032286.2	NP_115662.2	0	0	0	1.967783	Q9BTT4	MED10_HUMAN		1	205	-			C6G491	Missense_Mutation	SNP	ENST00000255764.3	1	1	hg19	c.95G>A	CCDS34134.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.299068	0.95574	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.035738	0.85682	D	0.000000	T	0.42291	0.1196	L	0.31207	0.915	0.80722	D	1	P	0.47841	0.901	B	0.41374	0.355	T	0.24835	-1.0149	9	0.19147	T	0.46	-17.8345	17.5168	0.87776	0.0:1.0:0.0:0.0	.	32	Q9BTT4	MED10_HUMAN	N	32	.	ENSP00000255764:S32N	S	-	2	0	0	MED10	6431502	6431502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.867000	0.75511	2.389000	0.81357	0.484000	0.47621	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_032286			32	32		112	110	1		1	1		0	0	19	0		1	1	0	42	0	125	0	32	112
NSUN2	54888	broad.mit.edu	37	5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000264670.6	-	17	2188	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A|NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363																																						ENST00000264670.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(1876-1878)gAt>gCt		NOP2/Sun RNA methyltransferase family, member 2							111.0	110.0	110.0					5																	6604331		2203	4300	6503	SO:0001583	missense	54888	0	0					g.chr5:6604331T>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1877A>C	chr5.hg19:g.6604331T>G	ENSP00000264670:p.Asp626Ala	0					NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	p.D626A	NM_017755.5	NP_060225.4	0	0	0	1.967783	Q08J23	NSUN2_HUMAN		17	2188	-			A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	1	1	hg19	c.1877A>C	CCDS3869.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407983	0.83340	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64438	-0.1;-0.1;-0.1	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.81623	-0.0849	10	0.15952	T	0.53	-52.9141	16.3668	0.83335	0.0:0.0:0.0:1.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	A	626;390;591	ENSP00000264670:D626A;ENSP00000444338:D390A;ENSP00000420957:D591A	ENSP00000264670:D626A	D	-	2	0	0	NSUN2	6657331	6657331	1.000000	0.71417	0.952000	0.39060	0.677000	0.39632	6.985000	0.76193	2.322000	0.78497	0.528000	0.53228	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_017755			41	41		195	191	1		1	1		0	0	48	0		1	1	0	44	0	87	0	41	195
PAPD7	11044	broad.mit.edu	37	5	6751208	6751208	+	Silent	SNP	G	G	A	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	ENST00000230859.6	+	11	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		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	619					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)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCAAGCGCCAGCTCCTC	0.532													G|||	28	0.00559105	0.0	0.0101	5008	,	,		16057	0.002		0.0119	False		,,,				2504	0.0072				NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1165-1167)gcG>gcA		PAP associated domain containing 7		G	,,	8,4398	14.3+/-33.2	0,8,2195	136.0	131.0	133.0		1167,627,1167	-11.6	0.0	5	dbSNP_132	133	79,8521	46.3+/-105.2	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	0,87,6416	AA,AG,GG		0.9186,0.1816,0.6689	,,	389/542,209/363,389/543	6751208	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	11044	938	121412	64				g.chr5:6751208G>A	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.1167G>A	chr5.hg19:g.6751208G>A		0						p.A389A	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	0	0	0	1.967783	Q5XG87	PAPD7_HUMAN		11	1296	+			A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	1	0	hg19	c.1167G>A	CCDS3871.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	0	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-2.247971	0	0.170000	NM_006999			122	119		514	506	1		1	1		0	0	111	0		1	9.999981e-01	0	13	0	67	0	122	514
ADCY2	108	broad.mit.edu	37	5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					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)			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						TTTCAAAATCGCACCTTAAGG	0.303																																						ENST00000338316.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				119						c.(1612-1614)cGc>cAc		adenylate cyclase 2 (brain)							128.0	124.0	125.0					5																	7713003		2203	4300	6503	SO:0001583	missense	108	1	121410	30				g.chr5:7713003G>A	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.1613G>A	chr5.hg19:g.7713003G>A	ENSP00000342952:p.Arg538His	0					ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H|RP11-711G10.1_ENST00000514105.2_RNA	p.R538H	NM_020546.2	NP_065433.2	0	0	0	1.967783	Q08462	ADCY2_HUMAN		11	1702	+			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	1	1	hg19	c.1613G>A	CCDS3872.2	1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507890	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77489	-1.1;-1.1	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.061950	0.64402	D	0.000012	T	0.76828	0.4042	M	0.64404	1.975	0.42518	D	0.992997	B;B	0.27140	0.096;0.169	B;B	0.23419	0.046;0.037	T	0.73487	-0.3967	10	0.45353	T	0.12	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	358;538	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	538;371;358	ENSP00000342952:R538H;ENSP00000444803:R358H	ENSP00000342952:R538H	R	+	2	0	0	ADCY2	7766003	7766003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.967000	0.56802	2.777000	0.95525	0.551000	0.68910	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-16.756930	1	0.170000	NM_020546			27	25		126	126	1		1	0		0	0	36	0		1	7.362291e-01	0	0	0	14	0	27	126
ADCY2	108	broad.mit.edu	37	5	7717276	7717276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.K363K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	543					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)			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						ATAGAACCAAGTCACAAAAGA	0.264																																						ENST00000338316.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				119						c.(1627-1629)aaG>aaA		adenylate cyclase 2 (brain)							83.0	88.0	86.0					5																	7717276		2202	4299	6501	SO:0001819	synonymous_variant	108	0	0					g.chr5:7717276G>A	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.1629G>A	chr5.hg19:g.7717276G>A		0					ADCY2_ENST00000537121.1_Silent_p.K363K|RP11-711G10.1_ENST00000514105.2_RNA	p.K543K	NM_020546.2	NP_065433.2	0	0	0	1.967783	Q08462	ADCY2_HUMAN		12	1718	+			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	1	1	hg19	c.1629G>A	CCDS3872.2	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-19.670580	1	0.170000	NM_020546			44	44		279	274	1		1	0		0	0	86	0		1	4.604434e-01	0	0	0	11	0	44	279
C5orf49	134121	broad.mit.edu	37	5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000399810.2	-	3	745	c.277C>A	c.(277-279)Ccg>Acg	p.P93T	C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567																																						ENST00000399810.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(277-279)Ccg>Acg		chromosome 5 open reading frame 49							122.0	130.0	128.0					5																	7832130		2072	4214	6286	SO:0001583	missense	134121	0	0					g.chr5:7832130G>T		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.277C>A	chr5.hg19:g.7832130G>T	ENSP00000382708:p.Pro93Thr	0					C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	p.P93T	NM_001089584.2	NP_001083053.1	0	0	0	1.967783	A4QMS7	CE049_HUMAN		3	745	-				Missense_Mutation	SNP	ENST00000399810.2	1	1	hg19	c.277C>A	CCDS43300.1	1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727191	0.03158	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30448	1.53;1.53	4.72	3.78	0.43462	4.72	3.78	0.43462	.	.	.	.	.	T	0.17066	0.0410	N	0.20685	0.6	0.32611	N	0.524627	B	0.17465	0.022	B	0.15052	0.012	T	0.20009	-1.0288	9	0.06494	T	0.89	-30.4253	10.888	0.46978	0.0:0.0:0.7548:0.2452	.	93	A4QMS7	CE049_HUMAN	T	93;91	ENSP00000382708:P93T;ENSP00000426019:P91T	ENSP00000382708:P93T	P	-	1	0	0	C5orf49	7885130	7885130	1.000000	0.71417	0.702000	0.30337	0.130000	0.20726	1.711000	0.37930	0.949000	0.37715	0.555000	0.69702	CCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	1	0	0		2	2	2	0		0	0	193		193	187	1	2.060000	-20.000000	1	0.170000	NM_001089584			125	123		663	652	1		1	0		0	0	193	0		1	1.829624e-01	0	0	0	5	0	125	663
FASTKD3	79072	broad.mit.edu	37	5	7861322	7861322	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	608	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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						CTTTCCCCAGTAAGTGTTTGC	0.328																																						ENST00000264669.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1822-1824)ttA>ttG		FAST kinase domains 3							136.0	135.0	135.0					5																	7861322		2203	4300	6503	SO:0001819	synonymous_variant	79072	0	0					g.chr5:7861322T>C	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.1824A>G	chr5.hg19:g.7861322T>C		0					FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.L608L	NM_024091.3	NP_076996.2	0	0	0	1.967783	Q14CZ7	FAKD3_HUMAN		6	1960	-			Q9BVD3	Silent	SNP	ENST00000264669.5	1	1	hg19	c.1824A>G	CCDS3873.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_024091			104	103		460	455	1		1	1		0	0	94	0		1	9.965017e-01	0	10	0	30	0	104	460
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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						TGAATAGCACGTTTTCCAGCT	0.353																																						ENST00000264669.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1300-1302)aaC>aaT		FAST kinase domains 3							55.0	57.0	56.0					5																	7866895		2203	4300	6503	SO:0001819	synonymous_variant	79072	0	0					g.chr5:7866895G>A	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.1302C>T	chr5.hg19:g.7866895G>A		0					MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.N434N	NM_024091.3	NP_076996.2	0	0	0	1.967783	Q14CZ7	FAKD3_HUMAN		2	1438	-			Q9BVD3	Silent	SNP	ENST00000264669.5	1	1	hg19	c.1302C>T	CCDS3873.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_024091			62	60		289	285	1		1	1		0	0	56	0		1	8.698308e-01	0	2	0	17	0	62	289
FASTKD3	79072	broad.mit.edu	37	5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	306					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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						CTTTGATCAAGAACCACCAGG	0.388																																						ENST00000264669.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(916-918)Ctt>Att		FAST kinase domains 3							86.0	97.0	93.0					5																	7867281		2203	4300	6503	SO:0001583	missense	79072	0	0					g.chr5:7867281G>T	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.916C>A	chr5.hg19:g.7867281G>T	ENSP00000264669:p.Leu306Ile	0					MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.L306I	NM_024091.3	NP_076996.2	0	0	0	1.967783	Q14CZ7	FAKD3_HUMAN		2	1052	-			Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	1	1	hg19	c.916C>A	CCDS3873.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548702	0.65311	.	.	ENSG00000124279	ENST00000264669	T	0.16897	2.31	4.86	4.86	0.63082	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.35895	-0.9770	10	0.42905	T	0.14	-24.8401	18.1841	0.89788	0.0:0.0:1.0:0.0	.	306	Q14CZ7	FAKD3_HUMAN	I	306	ENSP00000264669:L306I	ENSP00000264669:L306I	L	-	1	0	0	FASTKD3	7920281	7920281	1.000000	0.71417	0.169000	0.22859	0.634000	0.38068	7.015000	0.76387	2.506000	0.84524	0.655000	0.94253	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_024091			105	103		457	444	1		1	1		0	0	109	0		1	8.927284e-01	0	6	0	13	0	105	457
FASTKD3	79072	broad.mit.edu	37	5	7867410	7867410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867410A>C	ENST00000264669.5	-	2	923	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	263					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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						CATGCCTGCAAGATTCTATAA	0.353																																						ENST00000264669.5	0.350000	0.090000	2.800000e-01	1.400000e-01	0.200000	0.213178	0.200000	0.190000																										0				39						c.(787-789)Ttg>Gtg		FAST kinase domains 3							80.0	88.0	85.0					5																	7867410		2201	4300	6501	SO:0001583	missense	79072	0	0					g.chr5:7867410A>C	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.787T>G	chr5.hg19:g.7867410A>C	ENSP00000264669:p.Leu263Val	0					MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.L263V	NM_024091.3	NP_076996.2	0	0	0	1.967783	Q14CZ7	FAKD3_HUMAN		2	923	-			Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	0	1	hg19	c.787T>G	CCDS3873.1	0	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810045	0.50421	.	.	ENSG00000124279	ENST00000264669	T	0.38401	1.14	4.85	-0.21	0.13176	4.85	-0.21	0.13176	.	0.075761	0.53938	D	0.000053	T	0.45637	0.1352	M	0.76002	2.32	0.33263	D	0.560042	D	0.63880	0.993	P	0.53401	0.725	T	0.58989	-0.7538	10	0.54805	T	0.06	-6.9548	9.9157	0.41432	0.5983:0.0:0.4017:0.0	.	263	Q14CZ7	FAKD3_HUMAN	V	263	ENSP00000264669:L263V	ENSP00000264669:L263V	L	-	1	2	2	FASTKD3	7920410	7920410	0.589000	0.26807	0.029000	0.17559	0.975000	0.68041	0.854000	0.27791	-0.258000	0.09446	0.528000	0.53228	TTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	0	0	0		2	2	2	0		0	0	103		103	102	1	2.060000	-7.724820	1	0.170000	NM_024091			9	9		527	517	0		1	0		0	0	103	0		9.937763e-01	5.065985e-02	0	1	0	18	0	9	527
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A	rs540585802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			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						GGGCACAGACGCTCCTTGACT	0.408																																						ENST00000264669.5	1.000000	0.790000	1	9.300000e-01	0.990000	0.974928	0.990000	1.000000																										0				39						c.(118-120)Cgt>Tgt		FAST kinase domains 3							94.0	102.0	99.0					5																	7868079		2203	4300	6503	SO:0001583	missense	79072	0	0					g.chr5:7868079G>A	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.118C>T	chr5.hg19:g.7868079G>A	ENSP00000264669:p.Arg40Cys	0					MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.R40C	NM_024091.3	NP_076996.2	0	0	0	1.967783	Q14CZ7	FAKD3_HUMAN		2	254	-			Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	1	1	hg19	c.118C>T	CCDS3873.1	1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990783	0.18966	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24908	1.83;1.83;1.83	4.79	-0.638	0.11500	4.79	-0.638	0.11500	.	2.565830	0.01078	N	0.004921	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.42905	T	0.14	-0.6029	3.6307	0.08130	0.3878:0.0:0.432:0.1802	.	40	Q14CZ7	FAKD3_HUMAN	C	40;40;23	ENSP00000264669:R40C;ENSP00000426008:R40C;ENSP00000422443:R23C	ENSP00000264669:R40C	R	-	1	0	0	FASTKD3	7921079	7921079	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.420000	0.21263	-0.001000	0.14495	-0.137000	0.14449	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.221883	1	0.170000	NM_024091			40	40		384	377	0		1	1		0	0	88	0		1	4.273655e-01	0	2	0	13	0	40	384
MTRR	4552	broad.mit.edu	37	5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	628					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398																																						ENST00000264668.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				31						c.(1882-1884)Atc>Gtc		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						58.0	63.0	62.0					5																	7897209		2203	4300	6503	SO:0001583	missense	4552	0	0					g.chr5:7897209A>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1882A>G	chr5.hg19:g.7897209A>G	ENSP00000264668:p.Ile628Val	0					MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	p.I628V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	0	0	0	1.967783	Q9UBK8	MTRR_HUMAN		14	1912	+			O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	1	1	hg19	c.1882A>G	CCDS3874.1	1	.	.	.	.	.	.	.	.	.	.	A	0.888	-0.726317	0.03158	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86366	-2.11;-2.11	5.4	-3.84	0.04256	5.4	-3.84	0.04256	Oxidoreductase FAD/NAD(P)-binding (1);	0.686685	0.14816	N	0.296751	T	0.64371	0.2592	N	0.02960	-0.455	0.19300	N	0.99997	B	0.09022	0.002	B	0.12156	0.007	T	0.56141	-0.8028	10	0.02654	T	1	-11.5564	13.6269	0.62170	0.3905:0.0:0.6095:0.0	.	628	Q9UBK8	MTRR_HUMAN	V	628;601	ENSP00000264668:I628V;ENSP00000402510:I601V	ENSP00000264668:I628V	I	+	1	0	0	MTRR	7950209	7950209	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.907000	0.28531	-0.889000	0.03950	0.533000	0.62120	ATC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000				45	44		252	246	1		1	1		0	0	51	0		1	9.999410e-01	0	20	0	64	0	45	252
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		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	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						GGCACACCTGGAACAGTTGGC	0.567																																						ENST00000382496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1777-1779)tCc>tTc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							38.0	42.0	41.0					5																	9122771		2203	4300	6503	SO:0001583	missense	9037	0	0					g.chr5:9122771G>A	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.1778C>T	chr5.hg19:g.9122771G>A	ENSP00000371936:p.Ser593Phe	0						p.S593F	NM_003966.2	NP_003957.2	0	0	0	1.967783	Q13591	SEM5A_HUMAN		14	2443	-			D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	1	1	hg19	c.1778C>T	CCDS3875.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509239	0.85282	.	.	ENSG00000112902	ENST00000382496	T	0.37584	1.19	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60000	-0.7348	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	593	Q13591	SEM5A_HUMAN	F	593	ENSP00000371936:S593F	ENSP00000371936:S593F	S	-	2	0	0	SEMA5A	9175771	9175771	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.587000	0.98229	2.388000	0.81334	0.557000	0.71058	TCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000				64	64		263	260	1		1	0		0	0	51	0		1	9.709633e-01	0	0	0	26	0	64	263
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	G	A	rs377487102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000382496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F472F(1)	large_intestine(1)	81						c.(1414-1416)ttC>ttT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							84.0	77.0	80.0					5																	9154665		2203	4300	6503	SO:0001819	synonymous_variant	9037	2	121412	39				g.chr5:9154665G>A	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	chr5.hg19:g.9154665G>A		0						p.F472F	NM_003966.2	NP_003957.2	0	0	0	1.967783	Q13591	SEM5A_HUMAN		12	2081	-			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	1	1	hg19	c.1416C>T	CCDS3875.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-3.165979	1	0.170000				89	89		382	376	1		1	0		0	0	94	0		1	8.782421e-01	0	0	0	18	0	89	382
SEMA5A	9037	broad.mit.edu	37	5	9154803	9154803	+	Silent	SNP	G	G	A	rs1806150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154803G>A	ENST00000382496.5	-	12	1943	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y		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	426	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)			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						TAATGGTTCCGTAATCTATGA	0.498													G|||	8	0.00159744	0.0	0.0	5008	,	,		21439	0.0079		0.0	False		,,,				2504	0.0					ENST00000382496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(1276-1278)taC>taT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		G		0,4406		0,0,2203	69.0	67.0	68.0		1278	-11.4	0.2	5	dbSNP_92	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		426/1075	9154803	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9037	37	121406	47				g.chr5:9154803G>A	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.1278C>T	chr5.hg19:g.9154803G>A		0						p.Y426Y	NM_003966.2	NP_003957.2	0	0	0	1.967783	Q13591	SEM5A_HUMAN		12	1943	-			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	1	0	hg19	c.1278C>T	CCDS3875.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.253053	1	0.170000				65	64		319	316	1		1	0		0	0	79	0		1	9.856832e-01	0	0	0	35	0	65	319
SEMA5A	9037	broad.mit.edu	37	5	9197373	9197373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		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	325	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)			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						GCGCGATGGCGCTCAGGTTGA	0.597																																						ENST00000382496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(973-975)agC>agT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							80.0	80.0	80.0					5																	9197373		2203	4300	6503	SO:0001819	synonymous_variant	9037	1	121412	37				g.chr5:9197373G>A	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.975C>T	chr5.hg19:g.9197373G>A		0						p.S325S	NM_003966.2	NP_003957.2	0	0	0	1.967783	Q13591	SEM5A_HUMAN		10	1640	-			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	1	1	hg19	c.975C>T	CCDS3875.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				123	122		498	494	0		1	0		0	0	93	0		1	9.694649e-01	0	1	0	24	0	123	498
SEMA5A	9037	broad.mit.edu	37	5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	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	9					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)			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						TTGAGAACAGCCATGCTATAA	0.547																																						ENST00000382496.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(25-27)tgG>tgA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							111.0	110.0	111.0					5																	9380032		2203	4300	6503	SO:0001587	stop_gained	9037	0	0					g.chr5:9380032C>T	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.27G>A	chr5.hg19:g.9380032C>T	ENSP00000371936:p.Trp9*	0					CTD-2201E9.4_ENST00000511310.1_RNA	p.W9*	NM_003966.2	NP_003957.2	0	0	0	1.967783	Q13591	SEM5A_HUMAN		3	692	-			D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	0	1	hg19	c.27G>A	CCDS3875.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.079159	0.98048	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.100355	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7345	0.69406	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000371936:W9X	W	-	3	0	0	SEMA5A	9433032	9433032	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.551000	0.86045	0.563000	0.77884	TGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000				84	83		455	445	1		1	0		0	0	100	0		1	7.673847e-01	0	0	0	17	0	84	455
TAS2R1	50834	broad.mit.edu	37	5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					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)			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						ATGATGAATTCTATGAAGAAG	0.388																																						ENST00000382492.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				39						c.(220-222)Gaa>Taa		taste receptor, type 2, member 1							35.0	37.0	36.0					5																	9629925		2203	4299	6502	SO:0001587	stop_gained	50834	0	0					g.chr5:9629925C>A	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.220G>T	chr5.hg19:g.9629925C>A	ENSP00000371932:p.Glu74*	0					CTD-2001E22.1_ENST00000504182.2_RNA	p.E74*	NM_019599.2	NP_062545.1	0	0	0	1.967783	Q9NYW7	TA2R1_HUMAN		1	538	-			Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	0	1	hg19	c.220G>T	CCDS3876.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524497	0.85600	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.85	-0.66	0.11421	5.85	-0.66	0.11421	.	1.078920	0.07213	N	0.859590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5745	0.22557	0.0:0.3077:0.1431:0.5492	.	.	.	.	X	74	.	.	E	-	1	0	0	TAS2R1	9682925	9682925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.171000	0.10797	-0.137000	0.14449	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				38	38		200	199	0		1			0	0	42	0		1	0	0	0	0	0	0	38	200
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T			Q13634	CAD18_HUMAN	cadherin 18, type 2	618					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)			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)					AGAAGAATAGCGATTAAGGCT	0.478																																						ENST00000507958.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999851	0.990000	1.000000																										0				138						c.(1852-1854)Gct>Act		cadherin 18, type 2							64.0	63.0	64.0					5																	19483440		2203	4300	6503	SO:0001583	missense	1016	0	0					g.chr5:19483440C>T	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.1852G>A	chr5.hg19:g.19483440C>T	ENSP00000425093:p.Ala618Thr	0					CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR	p.A618T			0	0	0	1.967783	Q13634	CAD18_HUMAN		14	2842	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	1	1	hg19	c.1852G>A	CCDS3889.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.321308	0.95682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.74389	2.26	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.74315	-0.3705	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	618	Q13634	CAD18_HUMAN	T	618	ENSP00000371710:A618T;ENSP00000425093:A618T;ENSP00000274170:A618T	.	A	-	1	0	0	CDH18	19519197	19519197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-3.239645	1	0.170000	NM_004934			30	29		170	170	1		1	0		0	0	48	0		1	0	0	0	0	1	0	30	170
CDH18	1016	broad.mit.edu	37	5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000507958.1	-	11	2269	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)					AATCTGTCGTCTTCAACATTG	0.348																																						ENST00000507958.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(1279-1281)Gac>Aac		cadherin 18, type 2							101.0	95.0	97.0					5																	19544089		2203	4300	6503	SO:0001583	missense	1016	0	0					g.chr5:19544089C>T	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.1279G>A	chr5.hg19:g.19544089C>T	ENSP00000425093:p.Asp427Asn	0					CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N	p.D427N			0	0	0	1.967783	Q13634	CAD18_HUMAN		11	2269	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	1	1	hg19	c.1279G>A	CCDS3889.1	1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687736	0.29962	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.09;-0.05	5.44	4.57	0.56435	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.455464	0.24516	N	0.037858	T	0.46288	0.1385	N	0.13043	0.29	0.32552	N	0.53228	B;B	0.24317	0.101;0.076	B;B	0.32022	0.139;0.088	T	0.52472	-0.8571	9	.	.	.	.	12.7735	0.57434	0.0:0.9203:0.0:0.0797	.	427;427	B4DHG6;Q13634	.;CAD18_HUMAN	N	427;427;427;427;427;427;373;427	ENSP00000371710:D427N;ENSP00000425093:D427N;ENSP00000274170:D427N;ENSP00000424931:D427N;ENSP00000422138:D427N;ENSP00000427383:D373N;ENSP00000425854:D427N	.	D	-	1	0	0	CDH18	19579846	19579846	1.000000	0.71417	0.929000	0.37066	0.596000	0.36781	4.798000	0.62510	1.312000	0.45043	0.591000	0.81541	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_004934			47	46		169	166	0		1	0		0	0	46	0		1	0	0	0	0	1	0	47	169
CDH18	1016	broad.mit.edu	37	5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000507958.1	-	8	1709	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2	240	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)			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)					CCCAGCCATGTCTTTGGCTTG	0.418																																						ENST00000507958.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(718-720)gAc>gCc		cadherin 18, type 2							144.0	132.0	136.0					5																	19612635		2203	4300	6503	SO:0001583	missense	1016	0	0					g.chr5:19612635T>G	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.719A>C	chr5.hg19:g.19612635T>G	ENSP00000425093:p.Asp240Ala	0					CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A	p.D240A			0	0	0	1.967783	Q13634	CAD18_HUMAN		8	1709	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	1	1	hg19	c.719A>C	CCDS3889.1	1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746706	0.89663	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.95	5.95	0.96441	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91748	0.5410	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	240;240	B4DHG6;Q13634	.;CAD18_HUMAN	A	240;240;240;240;240;240;186;240	ENSP00000371710:D240A;ENSP00000425093:D240A;ENSP00000274170:D240A;ENSP00000424931:D240A;ENSP00000422138:D240A;ENSP00000427383:D186A;ENSP00000425854:D240A	.	D	-	2	0	0	CDH18	19648392	19648392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_004934			54	53		235	225	1		1			0	0	59	0		1	0	0	0	0	0	0	54	235
CDH12	1010	broad.mit.edu	37	5	21755864	21755864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:21755864C>A	ENST00000382254.1	-	14	2807	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	574	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)			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						AGGGTAGCTGCTGTCTTCTAT	0.453										HNSCC(59;0.17)																												ENST00000382254.1	0.590000	0.200000	4.800000e-01	2.700000e-01	0.360000	0.384721	0.360000	0.360000																										0				120						c.(1720-1722)aGc>aTc		cadherin 12, type 2 (N-cadherin 2)							185.0	153.0	164.0					5																	21755864		2203	4300	6503	SO:0001583	missense	1010	0	0					g.chr5:21755864C>A	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.1721G>T	chr5.hg19:g.21755864C>A	ENSP00000371689:p.Ser574Ile	0	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I|RP11-804N13.1_ENST00000522350.1_RNA	p.S574I	NM_004061.3	NP_004052.2	0	0	0	1.967783	P55289	CAD12_HUMAN		14	2807	-			B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	1	1	hg19	c.1721G>T	CCDS3890.1	0	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984975	0.74474	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54279	0.58;0.58;0.58	5.47	5.47	0.80525	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.085006	0.85682	D	0.000000	T	0.75258	0.3825	M	0.91818	3.245	0.47037	D	0.999292	P;P	0.48998	0.828;0.918	P;P	0.54431	0.752;0.601	T	0.81491	-0.0909	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	534;574	B7Z2U6;P55289	.;CAD12_HUMAN	I	574;574;534	ENSP00000423577:S574I;ENSP00000371689:S574I;ENSP00000428786:S534I	ENSP00000371689:S574I	S	-	2	0	0	CDH12	21791621	21791621	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.668000	0.54554	2.572000	0.86782	0.460000	0.39030	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-11.837890	1	0.170000	NM_004061			12	12		372	363	0		1	0		0	0	70	0		9.990163e-01	0	0	0	0	1	0	12	372
CDH12	1010	broad.mit.edu	37	5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000522262.1_Missense_Mutation_p.T30P|CDH12_ENST00000504376.2_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					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)			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						GTGGCTAAAGTCTGCTGTGGC	0.453										HNSCC(59;0.17)																												ENST00000382254.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(88-90)Act>Cct		cadherin 12, type 2 (N-cadherin 2)							202.0	202.0	202.0					5																	22078698		2203	4300	6503	SO:0001583	missense	1010	0	0					g.chr5:22078698T>G	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.88A>C	chr5.hg19:g.22078698T>G	ENSP00000371689:p.Thr30Pro	0	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	p.T30P	NM_004061.3	NP_004052.2	0	0	0	1.967783	P55289	CAD12_HUMAN		5	1174	-			B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	1	1	hg19	c.88A>C	CCDS3890.1	1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114372	0.37339	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.46;0.46;0.4	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.200215	0.52532	D	0.000078	T	0.29620	0.0739	N	0.08118	0	0.39251	D	0.964037	P;P	0.38922	0.651;0.651	B;B	0.31614	0.133;0.133	T	0.27191	-1.0081	10	0.25751	T	0.34	.	14.3088	0.66403	0.0:0.0:0.0:1.0	.	30;30	B7Z2U6;P55289	.;CAD12_HUMAN	P	30	ENSP00000423577:T30P;ENSP00000371689:T30P;ENSP00000428786:T30P	ENSP00000371689:T30P	T	-	1	0	0	CDH12	22114455	22114455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.068000	0.64364	2.131000	0.65755	0.454000	0.30748	ACT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	1	0	1		2	2	2	0		0	0	187		187	184	1	2.060000	-20.000000	1	0.170000	NM_004061			169	167		856	838	1		1			0	0	187	0		1	0	0	0	0	0	0	169	856
PRDM9	56979	broad.mit.edu	37	5	23509692	23509692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	61	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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)			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						ATAATGCACTGATTACTATAG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(181-183)ctG>ctA		PR domain containing 9							155.0	144.0	147.0					5																	23509692		1868	4113	5981	SO:0001819	synonymous_variant	56979	0	0					g.chr5:23509692G>A	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.183G>A	chr5.hg19:g.23509692G>A		0	HNSCC(3;0.000094)					p.L61L	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		3	365	+			B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	1	1	hg19	c.183G>A	CCDS43307.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_020227			92	90		363	353	1		1			0	0	136	0		1	0	0	0	0	0	0	92	363
PRDM9	56979	broad.mit.edu	37	5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T	rs181064967	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					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)			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						GTATAGCCTGCGAGAAAGAAA	0.458										HNSCC(3;0.000094)																												ENST00000296682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(550-552)Cga>Tga		PR domain containing 9							163.0	168.0	166.0					5																	23522454		1932	4156	6088	SO:0001587	stop_gained	56979	40	120896	49				g.chr5:23522454C>T	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.550C>T	chr5.hg19:g.23522454C>T	ENSP00000296682:p.Arg184*	0	HNSCC(3;0.000094)					p.R184*	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		7	732	+			B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	0	1	hg19	c.550C>T	CCDS43307.1	1	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532190	0.64972	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	-6.01	0.02199	3.63	-6.01	0.02199	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7103	13.4028	0.60893	0.8164:0.1836:0.0:0.0	.	.	.	.	X	184	.	ENSP00000296682:R184X	R	+	1	2	2	PRDM9	23558211	23558211	0.469000	0.25846	0.005000	0.12908	0.006000	0.05464	-0.309000	0.08145	-0.881000	0.03992	-1.580000	0.00857	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_020227			125	124		673	662	0		1			0	0	147	0		1	0	0	0	0	0	0	125	673
PRDM9	56979	broad.mit.edu	37	5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	229					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)			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						AAAGGACAGTGCAGTGGACAA	0.552										HNSCC(3;0.000094)																												ENST00000296682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				172						c.(685-687)Gca>Aca		PR domain containing 9							54.0	52.0	53.0					5																	23522797		2203	4300	6503	SO:0001583	missense	56979	0	0					g.chr5:23522797G>A	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.685G>A	chr5.hg19:g.23522797G>A	ENSP00000296682:p.Ala229Thr	0	HNSCC(3;0.000094)					p.A229T	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		8	867	+			B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	1	1	hg19	c.685G>A	CCDS43307.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198050	0.38806	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.50001	0.76	4.28	-1.93	0.07594	4.28	-1.93	0.07594	.	0.247922	0.21003	N	0.081821	T	0.28830	0.0715	L	0.42686	1.345	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.7371	3.8134	0.08806	0.1023:0.4634:0.2774:0.1569	.	229	Q9NQV7	PRDM9_HUMAN	T	229;23	ENSP00000296682:A229T	ENSP00000253473:A23T	A	+	1	0	0	PRDM9	23558554	23558554	0.000000	0.05858	0.002000	0.10522	0.906000	0.53458	0.056000	0.14256	-0.259000	0.09432	0.597000	0.82753	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_020227			36	35		196	192	1		1			0	0	42	0		1	0	0	0	0	0	0	36	196
PRDM9	56979	broad.mit.edu	37	5	23526654	23526654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23526654G>T	ENST00000296682.3	+	11	1639	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	486					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)			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						CAAATGGGGAGCTGTAGAGTG	0.453										HNSCC(3;0.000094)																												ENST00000296682.3	0.600000	0.130000	4.600000e-01	2.100000e-01	0.310000	0.341414	0.310000	0.290000																										0				172						c.(1456-1458)aGc>aTc		PR domain containing 9							38.0	38.0	38.0					5																	23526654		2079	4224	6303	SO:0001583	missense	56979	0	0					g.chr5:23526654G>T	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.1457G>T	chr5.hg19:g.23526654G>T	ENSP00000296682:p.Ser486Ile	0	HNSCC(3;0.000094)					p.S486I	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		11	1639	+			B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	0	1	hg19	c.1457G>T	CCDS43307.1	0	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188363	0.21954	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.71	0.764	0.18465	2.71	0.764	0.18465	.	0.346301	0.21154	N	0.079277	T	0.08088	0.0202	L	0.46157	1.445	0.09310	N	1	P	0.50617	0.937	B	0.40329	0.326	T	0.25641	-1.0126	10	0.49607	T	0.09	-1.791	3.9423	0.09333	0.1509:0.2486:0.6005:0.0	.	486	Q9NQV7	PRDM9_HUMAN	I	486;280	ENSP00000296682:S486I	ENSP00000253473:S280I	S	+	2	0	0	PRDM9	23562411	23562411	0.717000	0.27966	0.001000	0.08648	0.143000	0.21401	0.000000	0.12993	0.160000	0.19432	0.505000	0.49811	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	0	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-7.774005	1	0.170000	NM_020227			6	6		224	222	0		1			0	0	56	0		9.646089e-01	0	0	0	0	0	0	6	224
PRDM9	56979	broad.mit.edu	37	5	23527381	23527381	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23527381C>T	ENST00000296682.3	+	11	2366	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	728					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)			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						GTGGGCGGGGCTTTAGCAATA	0.597										HNSCC(3;0.000094)																												ENST00000296682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				172						c.(2182-2184)ggC>ggT		PR domain containing 9							22.0	23.0	23.0					5																	23527381		2061	4160	6221	SO:0001819	synonymous_variant	56979	0	0					g.chr5:23527381C>T	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.2184C>T	chr5.hg19:g.23527381C>T		0	HNSCC(3;0.000094)					p.G728G	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		11	2366	+			B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	1	0	hg19	c.2184C>T	CCDS43307.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	0		2	2	2	0		0	0	99		99	0	1	2.060000	-20.000000	1	0.170000	NM_020227			71	0		377	0	0					0	0	99	0		0	0	0	0	0	0	0	71	377
PRDM9	56979	broad.mit.edu	37	5	23527721	23527721	+	Missense_Mutation	SNP	C	C	T	rs201643800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23527721C>T	ENST00000296682.3	+	11	2706	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					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)			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						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																												ENST00000296682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999213	0.990000	1.000000																										0				172						c.(2524-2526)Cgc>Tgc		PR domain containing 9		A	CYS/ARG	1,4363		0,1,2181	64.0	74.0	71.0		2524	1.5	0.0	5		71	1,8589		0,1,4294	no	missense	PRDM9	NM_020227.2	180	0,2,6475	TT,TC,CC		0.0116,0.0229,0.0154	possibly-damaging	842/895	23527721	2,12952	2182	4295	6477	SO:0001583	missense	56979	17	121204	41				g.chr5:23527721C>T	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.2524C>T	chr5.hg19:g.23527721C>T	ENSP00000296682:p.Arg842Cys	0	HNSCC(3;0.000094)					p.R842C	NM_020227.2	NP_064612.2	0	0	0	1.967783	Q9NQV7	PRDM9_HUMAN		11	2706	+			B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	1	0	hg19	c.2524C>T	CCDS43307.1	1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555271	0.45487	2.29E-4	1.16E-4	ENSG00000164256	ENST00000296682	T	0.08282	3.11	2.67	1.45	0.22620	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25286	0.73	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.42982	-0.9419	9	0.59425	D	0.04	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	C	842	ENSP00000296682:R842C	ENSP00000296682:R842C	R	+	1	0	0	PRDM9	23563478	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-0.735595	0	0.170000	NM_020227			81	68		667	535	1		1			0	0	148	0		1	0	0	0	0	0	0	81	667
CDH10	1008	broad.mit.edu	37	5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	761					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)			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)		GGTAATCGTAGTTTTGGTCTC	0.438										HNSCC(23;0.051)																												ENST00000264463.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(2281-2283)aaC>aaA		cadherin 10, type 2 (T2-cadherin)							162.0	161.0	161.0					5																	24487856		2203	4300	6503	SO:0001583	missense	1008	0	0					g.chr5:24487856G>T	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.2283C>A	chr5.hg19:g.24487856G>T	ENSP00000264463:p.Asn761Lys	0	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.N761K	NM_006727.3	NP_006718.2	0	0	0	1.967783	Q9Y6N8	CAD10_HUMAN		12	2790	-			Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	1	1	hg19	c.2283C>A	CCDS3892.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535813	0.45176	.	.	ENSG00000040731	ENST00000264463	T	0.76448	-1.02	5.81	2.02	0.26589	5.81	2.02	0.26589	Cadherin, cytoplasmic domain (1);	0.131088	0.64402	D	0.000001	T	0.70360	0.3215	L	0.50993	1.605	0.40598	D	0.981552	B	0.15141	0.012	B	0.18263	0.021	T	0.66830	-0.5824	10	0.87932	D	0	.	10.2185	0.43184	0.2733:0.0:0.7267:0.0	.	761	Q9Y6N8	CAD10_HUMAN	K	761	ENSP00000264463:N761K	ENSP00000264463:N761K	N	-	3	2	2	CDH10	24523613	24523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	0.375000	0.24679	0.655000	0.94253	AAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000	NM_006727			154	152		693	673	1		1	0		0	0	161	0		1	0	0	0	0	1	0	154	693
CDH10	1008	broad.mit.edu	37	5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	679					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)			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)		CTCAATGGCTGCAGGATTCCT	0.483										HNSCC(23;0.051)																												ENST00000264463.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				185						c.(2035-2037)gCa>gTa		cadherin 10, type 2 (T2-cadherin)							60.0	64.0	63.0					5																	24488103		2203	4300	6503	SO:0001583	missense	1008	0	0					g.chr5:24488103G>A	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.2036C>T	chr5.hg19:g.24488103G>A	ENSP00000264463:p.Ala679Val	0	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A679V	NM_006727.3	NP_006718.2	0	0	0	1.967783	Q9Y6N8	CAD10_HUMAN		12	2543	-			Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	1	1	hg19	c.2036C>T	CCDS3892.1	1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713235	0.48517	.	.	ENSG00000040731	ENST00000264463	T	0.76186	-1.0	5.46	5.46	0.80206	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.100384	0.64402	D	0.000002	T	0.57917	0.2086	N	0.04260	-0.245	0.46564	D	0.999106	P	0.34815	0.47	B	0.39027	0.288	T	0.64364	-0.6425	10	0.51188	T	0.08	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	679	Q9Y6N8	CAD10_HUMAN	V	679	ENSP00000264463:A679V	ENSP00000264463:A679V	A	-	2	0	0	CDH10	24523860	24523860	1.000000	0.71417	0.855000	0.33649	0.953000	0.61014	5.855000	0.69510	2.580000	0.87095	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-19.999920	1	0.170000	NM_006727			56	54		356	347	1		1	0		0	0	80	0		1	0	0	0	0	1	0	56	356
CDH10	1008	broad.mit.edu	37	5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		TTGTGCCCACTTCAATATCTT	0.403										HNSCC(23;0.051)																												ENST00000264463.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				185						c.(1192-1194)gaA>gaC		cadherin 10, type 2 (T2-cadherin)							103.0	103.0	103.0					5																	24509737		2203	4300	6503	SO:0001583	missense	1008	0	0					g.chr5:24509737T>G	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.1194A>C	chr5.hg19:g.24509737T>G	ENSP00000264463:p.Glu398Asp	0	HNSCC(23;0.051)					p.E398D	NM_006727.3	NP_006718.2	0	0	0	1.967783	Q9Y6N8	CAD10_HUMAN		7	1701	-			Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	1	1	hg19	c.1194A>C	CCDS3892.1	1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283613	0.40394	.	.	ENSG00000040731	ENST00000264463	T	0.02552	4.25	5.26	2.73	0.32206	5.26	2.73	0.32206	Cadherin (3);Cadherin-like (1);	0.228496	0.43579	N	0.000547	T	0.02494	0.0076	L	0.28556	0.865	0.30452	N	0.775141	B	0.13145	0.007	B	0.19148	0.024	T	0.23332	-1.0191	10	0.45353	T	0.12	.	6.4566	0.21934	0.0:0.0833:0.3006:0.6162	.	398	Q9Y6N8	CAD10_HUMAN	D	398	ENSP00000264463:E398D	ENSP00000264463:E398D	E	-	3	2	2	CDH10	24545494	24545494	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	0.356000	0.24157	0.528000	0.53228	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_006727			61	57		265	251	1		1			0	0	65	0		1	0	0	0	0	0	0	61	265
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A196P(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)		ATGACTCTGGCGCTGTTCCCA	0.453										HNSCC(23;0.051)																												ENST00000264463.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										1	Substitution - Missense(1)	p.A196P(1)	lung(1)	185						c.(586-588)Gcc>Acc		cadherin 10, type 2 (T2-cadherin)							136.0	124.0	128.0					5																	24535872		2203	4300	6503	SO:0001583	missense	1008	0	0					g.chr5:24535872C>T	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.586G>A	chr5.hg19:g.24535872C>T	ENSP00000264463:p.Ala196Thr	0	HNSCC(23;0.051)					p.A196T	NM_006727.3	NP_006718.2	0	0	0	1.967783	Q9Y6N8	CAD10_HUMAN		4	1093	-			Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	1	1	hg19	c.586G>A	CCDS3892.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.687570	0.96784	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	6.17	0.99709	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00005	-1.2546	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	T	196	ENSP00000264463:A196T	ENSP00000264463:A196T	A	-	1	0	0	CDH10	24571629	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.081470	1	0.170000	NM_006727			40	40		233	231	1		1	0		0	0	62	0		1	2.268775e-02	0	0	0	2	0	40	233
CDH9	1007	broad.mit.edu	37	5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						TCCAATGATACTGCCCTCCTT	0.338																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4	1.000000	0.610000	1	7.300000e-01	0.860000	0.864297	0.860000	1.000000																										0				137						c.(1198-1200)aGt>aAt		cadherin 9, type 2 (T1-cadherin)							126.0	118.0	121.0					5																	26902639		2203	4300	6503	SO:0001583	missense	1007	0	0					g.chr5:26902639C>T	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.1199G>A	chr5.hg19:g.26902639C>T	ENSP00000231021:p.Ser400Asn	0						p.S400N	NM_016279.3	NP_057363.3	0	0	0	1.967783	Q9ULB4	CADH9_HUMAN		7	1371	-			Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	1	1	hg19	c.1199G>A	CCDS3893.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017195	0.54576	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.62	5.62	0.85841	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.192760	0.53938	D	0.000042	T	0.47192	0.1432	M	0.69248	2.105	0.40218	D	0.977705	B	0.14438	0.01	B	0.26614	0.071	T	0.40346	-0.9568	9	.	.	.	.	11.6748	0.51424	0.0:0.9184:0.0:0.0816	.	400	Q9ULB4	CADH9_HUMAN	N	400	ENSP00000231021:S400N	.	S	-	2	0	0	CDH9	26938396	26938396	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	0.592000	0.23984	2.648000	0.89879	0.650000	0.86243	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.142702	1	0.170000	NM_016279			32	31		393	384	0		1			0	0	65	0		1	0	0	0	0	0	0	32	393
CDH9	1007	broad.mit.edu	37	5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	308	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)			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						ATCTCCTTCAGCAATGCTATA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(922-924)gCt>gTt		cadherin 9, type 2 (T1-cadherin)							293.0	255.0	267.0					5																	26903822		2203	4300	6503	SO:0001583	missense	1007	0	0					g.chr5:26903822G>A	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.923C>T	chr5.hg19:g.26903822G>A	ENSP00000231021:p.Ala308Val	0						p.A308V	NM_016279.3	NP_057363.3	0	0	0	1.967783	Q9ULB4	CADH9_HUMAN		6	1095	-			Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	1	1	hg19	c.923C>T	CCDS3893.1	1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084935	0.08583	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.74	4.85	0.62838	5.74	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.770981	0.12924	N	0.427965	T	0.17023	0.0409	N	0.00742	-1.23	0.20638	N	0.999873	B	0.02656	0.0	B	0.04013	0.001	T	0.09618	-1.0666	9	.	.	.	.	10.8091	0.46535	0.1489:0.0:0.8511:0.0	.	308	Q9ULB4	CADH9_HUMAN	V	308	ENSP00000231021:A308V	.	A	-	2	0	0	CDH9	26939579	26939579	0.079000	0.21365	0.994000	0.49952	0.741000	0.42261	2.924000	0.48876	2.881000	0.98747	0.650000	0.86243	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	1		2	2	2	0		0	0	233		233	230	1	2.060000	-20.000000	1	0.170000	NM_016279			190	185		736	714	1		1			0	0	233	0		1	0	0	0	0	0	0	190	736
CDH9	1007	broad.mit.edu	37	5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	95	Cadherin 1. {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)			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						CCAGCCCCATCTCCTGTTAGT	0.353																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(283-285)Gat>Aat		cadherin 9, type 2 (T1-cadherin)							102.0	104.0	103.0					5																	26915978		2203	4299	6502	SO:0001583	missense	1007	0	0					g.chr5:26915978C>T	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.283G>A	chr5.hg19:g.26915978C>T	ENSP00000231021:p.Asp95Asn	0						p.D95N	NM_016279.3	NP_057363.3	0	0	0	1.967783	Q9ULB4	CADH9_HUMAN		3	455	-			Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	1	1	hg19	c.283G>A	CCDS3893.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914844	0.92178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.60920	0.15;0.67	4.62	4.62	0.57501	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.101514	0.64402	D	0.000003	T	0.72946	0.3524	M	0.63169	1.94	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.891	T	0.73392	-0.3997	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	95;95	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	95	ENSP00000231021:D95N;ENSP00000426239:D95N	.	D	-	1	0	0	CDH9	26951735	26951735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	1		2	2	2	0		0	0	103		103	100	1	2.060000	-20.000000	1	0.170000	NM_016279			97	93		549	539	1		1			0	0	103	0		1	0	0	0	0	0	0	97	549
CDH6	1004	broad.mit.edu	37	5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	184	Cadherin 2. {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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393																																						ENST00000265071.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(550-552)aCg>aTg		cadherin 6, type 2, K-cadherin (fetal kidney)							165.0	154.0	157.0					5																	31297423		2203	4300	6503	SO:0001583	missense	1004	1	121410	28				g.chr5:31297423C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.551C>T	chr5.hg19:g.31297423C>T	ENSP00000265071:p.Thr184Met	0					CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	p.T184M	NM_004932.3	NP_004923.1	0	0	0	1.967783	P55285	CADH6_HUMAN		4	816	+			A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	1	1	hg19	c.551C>T	CCDS3894.1	1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167083	0.38217	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.146577	0.64402	D	0.000009	T	0.68165	0.2971	M	0.72576	2.205	0.44918	D	0.997935	D;D	0.69078	0.983;0.997	P;P	0.60541	0.799;0.876	T	0.70883	-0.4751	10	0.72032	D	0.01	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	184;184	P55285;P55285-2	CADH6_HUMAN;.	M	129;184	ENSP00000424843:T129M;ENSP00000265071:T184M	ENSP00000265071:T184M	T	+	2	0	0	CDH6	31333180	31333180	0.896000	0.30565	0.495000	0.27527	0.070000	0.16714	1.892000	0.39748	2.749000	0.94314	0.655000	0.94253	ACG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_004932			73	73		379	373	1		1	0		0	0	80	0		1	8.112763e-01	0	0	0	18	0	73	379
CDH6	1004	broad.mit.edu	37	5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368																																						ENST00000265071.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999409	0.990000	1.000000																										0				77						c.(1396-1398)Cca>Tca		cadherin 6, type 2, K-cadherin (fetal kidney)							54.0	56.0	55.0					5																	31316320		2203	4300	6503	SO:0001583	missense	1004	0	0					g.chr5:31316320C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1396C>T	chr5.hg19:g.31316320C>T	ENSP00000265071:p.Pro466Ser	0					CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	p.P466S	NM_004932.3	NP_004923.1	0	0	0	1.967783	P55285	CADH6_HUMAN		9	1661	+			A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	1	1	hg19	c.1396C>T	CCDS3894.1	1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468432	0.43839	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.02	4.13	0.48395	5.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.102637	0.64402	D	0.000002	T	0.51312	0.1667	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.33857	0.08;0.429	B;B	0.38378	0.074;0.272	T	0.49978	-0.8881	10	0.30078	T	0.28	.	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	466;466	P55285;P55285-2	CADH6_HUMAN;.	S	411;466	ENSP00000424843:P411S;ENSP00000265071:P466S	ENSP00000265071:P466S	P	+	1	0	0	CDH6	31352077	31352077	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.278000	0.78587	1.444000	0.47605	0.591000	0.81541	CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_004932			35	35		236	236	1		1	0		0	0	49	0		1	6.678323e-01	0	0	0	17	0	35	236
PDZD2	23037	broad.mit.edu	37	5	32087337	32087337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						AAGTCAGTCGGCCAGAGAATC	0.637																																						ENST00000438447.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(3781-3783)cgG>cgA		PDZ domain containing 2							62.0	71.0	68.0					5																	32087337		2203	4300	6503	SO:0001819	synonymous_variant	23037	0	0					g.chr5:32087337G>A	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.3783G>A	chr5.hg19:g.32087337G>A		0					PDZD2_ENST00000282493.3_Silent_p.R1261R	p.R1261R			0	0	0	1.967783	O15018	PDZD2_HUMAN		20	4171	+			Q9BXD4	Silent	SNP	ENST00000438447.1	1	1	hg19	c.3783G>A	CCDS34137.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000				100	100		553	539	1		1	0		0	0	133	0		1	1.731168e-01	0	0	0	5	0	100	553
PDZD2	23037	broad.mit.edu	37	5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1721					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						TTTCACAGTCCGCCCATCATT	0.498																																						ENST00000438447.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(5161-5163)cCg>cTg		PDZ domain containing 2							117.0	97.0	104.0					5																	32088716		2203	4300	6503	SO:0001583	missense	23037	7	121412	40				g.chr5:32088716C>T	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.5162C>T	chr5.hg19:g.32088716C>T	ENSP00000402033:p.Pro1721Leu	0					PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L	p.P1721L			0	0	0	1.967783	O15018	PDZD2_HUMAN		20	5550	+			Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	1	1	hg19	c.5162C>T	CCDS34137.1	1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340517	0.24339	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.37	2.65	0.31530	5.37	2.65	0.31530	.	0.898851	0.09563	N	0.785301	T	0.08447	0.0210	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.35671	T	0.21	.	7.4691	0.27338	0.0:0.7293:0.0:0.2707	.	1721	O15018	PDZD2_HUMAN	L	1721;1522;1721	ENSP00000402033:P1721L;ENSP00000282493:P1721L	ENSP00000282493:P1721L	P	+	2	0	0	PDZD2	32124473	32124473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.264000	0.21851	0.561000	0.74099	CCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.508967	1	0.170000				90	88		335	332	1		1	0		0	0	104	0		1	6.594903e-01	0	0	0	10	0	90	335
GOLPH3	64083	broad.mit.edu	37	5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	290					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498																																						ENST00000265070.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(868-870)tgG>tgA		golgi phosphoprotein 3 (coat-protein)							115.0	111.0	112.0					5																	32126345		2203	4300	6503	SO:0001587	stop_gained	64083	0	0					g.chr5:32126345C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.870G>A	chr5.hg19:g.32126345C>T	ENSP00000265070:p.Trp290*	0					GOLPH3_ENST00000512668.1_5'Flank	p.W290*	NM_022130.3	NP_071413.1	0	0	0	1.967783	Q9H4A6	GOLP3_HUMAN		4	1185	-			Q9UIW5	Nonsense_Mutation	SNP	ENST00000265070.6	0	1	hg19	c.870G>A	CCDS3896.1	1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884130	0.72410	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	290;273	.	ENSP00000265070:W290X	W	-	3	0	0	GOLPH3	32162102	32162102	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	TGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	1	0	0		2	2	2	0		0	0	143		143	140	1	2.060000	-20.000000	1	0.170000	NM_022130			118	117		570	560	0		1	1		0	0	143	0		1	1	0	134	0	436	0	118	570
GOLPH3	64083	broad.mit.edu	37	5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	228					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502																																						ENST00000265070.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(682-684)gAc>gCc		golgi phosphoprotein 3 (coat-protein)							189.0	170.0	177.0					5																	32126532		2203	4300	6503	SO:0001583	missense	64083	0	0					g.chr5:32126532T>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.683A>C	chr5.hg19:g.32126532T>G	ENSP00000265070:p.Asp228Ala	0					GOLPH3_ENST00000512668.1_5'Flank	p.D228A	NM_022130.3	NP_071413.1	0	0	0	1.967783	Q9H4A6	GOLP3_HUMAN		4	998	-			Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	1	1	hg19	c.683A>C	CCDS3896.1	1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834356	0.50951	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.086647	0.85682	D	0.000000	T	0.79028	0.4377	M	0.90082	3.085	0.80722	D	1	P	0.49783	0.928	P	0.53266	0.722	T	0.82127	-0.0611	9	0.49607	T	0.09	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	228	Q9H4A6	GOLP3_HUMAN	A	228;211	.	ENSP00000265070:D228A	D	-	2	0	0	GOLPH3	32162289	32162289	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.649000	0.83500	2.367000	0.80283	0.528000	0.53228	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_022130			134	133		493	484	1		1	1		0	0	101	0		1	1	0	118	0	387	0	134	493
MTMR12	54545	broad.mit.edu	37	5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	619	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			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						GTCAGTGGACTTGCTATGCCA	0.448																																						ENST00000382142.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1855-1857)aAg>aCg		myotubularin related protein 12							100.0	99.0	99.0					5																	32230272		2203	4300	6503	SO:0001583	missense	54545	0	0					g.chr5:32230272T>G	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.1856A>C	chr5.hg19:g.32230272T>G	ENSP00000371577:p.Lys619Thr	0					MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T	p.K619T	NM_001040446.1	NP_001035536.1	0	0	0	1.967783	Q9C0I1	MTMRC_HUMAN		16	2026	-			Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	1	1	hg19	c.1856A>C	CCDS34138.1	1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210419	0.58343	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.42131	0.98;0.98;0.98	5.78	2.13	0.27403	5.78	2.13	0.27403	Myotubularin phosphatase domain (1);	0.470463	0.23450	N	0.048057	T	0.42245	0.1194	L	0.59436	1.845	0.21325	N	0.999729	P;B;P	0.37158	0.585;0.449;0.505	B;B;B	0.42827	0.399;0.212;0.317	T	0.28870	-1.0030	10	0.49607	T	0.09	.	9.2291	0.37425	0.0:0.2043:0.0:0.7957	.	509;565;619	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	T	565;619;509	ENSP00000280285:K565T;ENSP00000371577:K619T;ENSP00000264934:K509T	ENSP00000264934:K509T	K	-	2	0	0	MTMR12	32266029	32266029	1.000000	0.71417	0.969000	0.41365	0.800000	0.45204	2.127000	0.42035	0.139000	0.18822	0.459000	0.35465	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	0	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_019061			104	101		526	517	1		1	1		0	0	111	0		1	9.999988e-01	0	24	0	74	0	104	526
ZFR	51663	broad.mit.edu	37	5	32387723	32387723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	811	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)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383																																						ENST00000265069.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2431-2433)Ctg>Ttg		zinc finger RNA binding protein							120.0	118.0	119.0					5																	32387723		2203	4300	6503	SO:0001819	synonymous_variant	51663	0	0					g.chr5:32387723G>A	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.2431C>T	chr5.hg19:g.32387723G>A		0						p.L811L	NM_016107.3	NP_057191.2	0	0	0	1.967783	Q96KR1	ZFR_HUMAN		14	2533	-			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	1	1	hg19	c.2431C>T	CCDS34139.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1	0	0	1		18	13	2	1		1	1	79		79	79	1	2.060000	-20.000000	1	0.170000				75	74		361	357	0		1	1		1	0	79	0		1	1	0	63	0	213	0	75	361
NPR3	4883	broad.mit.edu	37	5	32712326	32712326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					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)			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)	GGCTTGCATCGCACTGGGACC	0.706																																						ENST00000265074.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(442-444)tcG>tcA		natriuretic peptide receptor 3	Nesiritide(DB04899)						45.0	50.0	48.0					5																	32712326		1990	4121	6111	SO:0001819	synonymous_variant	4883	0	0					g.chr5:32712326G>A		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.444G>A	chr5.hg19:g.32712326G>A		0					NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	0	0	0	1.967783	P17342	ANPRC_HUMAN		1	787	+			A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	1	1	hg19	c.444G>A	CCDS56357.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	1	0	1		2	2	2	0		0	0	92		92	87	1	2.060000	-20.000000	1	0.170000	NM_000908			101	99		524	513	1		1	0		0	0	92	0		1	9.901173e-01	0	0	0	39	0	101	524
NPR3	4883	broad.mit.edu	37	5	32739076	32739076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32739076G>T	ENST00000265074.8	+	3	1342	c.999G>T	c.(997-999)gaG>gaT	p.E333D	NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	333					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)			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)	CTGAGTTTGAGAAGTTTTCCA	0.453																																						ENST00000265074.8	0.480000	0.150000	3.900000e-01	2.100000e-01	0.290000	0.305906	0.290000	0.290000																										0				24						c.(997-999)gaG>gaT		natriuretic peptide receptor 3	Nesiritide(DB04899)						128.0	125.0	126.0					5																	32739076		1881	4103	5984	SO:0001583	missense	4883	0	0					g.chr5:32739076G>T		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.999G>T	chr5.hg19:g.32739076G>T	ENSP00000265074:p.Glu333Asp	0					NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D	p.E333D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	0	0	0	1.967783	P17342	ANPRC_HUMAN		3	1342	+			A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	0	1	hg19	c.999G>T	CCDS56357.1	0	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170557	0.38315	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.04	5.17	0.71159	6.04	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.046579	0.85682	D	0.000000	D	0.88265	0.6390	M	0.61703	1.905	0.52501	D	0.999953	P;B;D;D	0.63880	0.632;0.446;0.993;0.993	B;B;D;D	0.72338	0.18;0.137;0.977;0.977	D	0.85435	0.1151	10	0.13853	T	0.58	-19.2395	15.0721	0.72046	0.0673:0.0:0.9327:0.0	.	117;117;333;333	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	110;117;117;333;333	ENSP00000425325:E110D;ENSP00000388408:E117D;ENSP00000402490:E117D;ENSP00000265074:E333D;ENSP00000398028:E333D	ENSP00000265074:E333D	E	+	3	2	2	NPR3	32774833	32774833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	1.571000	0.49722	0.561000	0.74099	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.477789	1	0.170000	NM_000908			11	11		436	423	0		1	0		0	0	103	0		9.980860e-01	6.279571e-01	0	0	0	83	0	11	436
TARS	6897	broad.mit.edu	37	5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000265112.3	+	12	1579	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	423					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)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463																																						ENST00000265112.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1267-1269)cGg>cAg		threonyl-tRNA synthetase	L-Threonine(DB00156)						71.0	74.0	73.0					5																	33461024		2203	4300	6503	SO:0001583	missense	6897	0	0					g.chr5:33461024G>A	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.1268G>A	chr5.hg19:g.33461024G>A	ENSP00000265112:p.Arg423Gln	0					TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q	p.R423Q	NM_152295.4	NP_689508.3	0	0	0	1.967783	P26639	SYTC_HUMAN		12	1579	+			A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	1	1	hg19	c.1268G>A	CCDS3899.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.372127	0.95923	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.999;1.0	B;D;D;D	0.75484	0.427;0.986;0.959;0.986	T	0.80476	-0.1366	10	0.87932	D	0	-7.802	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302;456;319;423	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	423;423;319;456;302	ENSP00000424387:R423Q;ENSP00000265112:R423Q;ENSP00000438469:R319Q;ENSP00000387710:R456Q;ENSP00000394291:R302Q	ENSP00000265112:R423Q	R	+	2	0	0	TARS	33496781	33496781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.114699	1	0.170000	NM_152295			69	68		274	269	1		1	1		0	0	74	0		1	1	0	102	0	276	0	69	274
ADAMTS12	81792	broad.mit.edu	37	5	33527365	33527365	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1571	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.860000	1	9.600000e-01	0.990000	0.984914	0.990000	1.000000																										0				216						c.(4711-4713)tgT>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 12							261.0	233.0	242.0					5																	33527365		2203	4300	6503	SO:0001819	synonymous_variant	81792	0	0					g.chr5:33527365A>G	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.4713T>C	chr5.hg19:g.33527365A>G		0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.C1486C	p.C1571C	NM_030955.2	NP_112217.2	0	0	0	1.967783	P58397	ATS12_HUMAN		24	5048	-			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	1	1	hg19	c.4713T>C	CCDS34140.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	0		2	2	2	0		0	0	172		172	171	1	2.060000	-19.996600	1	0.170000	NM_030955			86	86		843	824	0		1	0		0	0	172	0		1	9.997956e-01	0	0	0	119	0	86	843
ADAMTS12	81792	broad.mit.edu	37	5	33614342	33614342	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997689	0.990000	1.000000																										0				216						c.e16+1		ADAM metallopeptidase with thrombospondin type 1 motif, 12							134.0	94.0	107.0					5																	33614342		2203	4300	6503	SO:0001630	splice_region_variant	81792	0	0					g.chr5:33614342C>T	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.2527+1G>A	chr5.hg19:g.33614342C>T		0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site		NM_030955.2	NP_112217.2	0	0	0	1.967783	P58397	ATS12_HUMAN		16	2863	-			A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	1	1	hg19		CCDS34140.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414237	0.83449	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ADAMTS12	33650099	33650099	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_030955	Intron		18	17		108	105	1		1			0	0	41	0		9.999849e-01	0	0	0	0	0	0	18	108
ADAMTS12	81792	broad.mit.edu	37	5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	791	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)			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						CACACAGACTCATTGGTGGGA	0.483										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				216						c.(2371-2373)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12							142.0	126.0	131.0					5																	33615950		2203	4300	6503	SO:0001583	missense	81792	0	0					g.chr5:33615950C>T	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.2371G>A	chr5.hg19:g.33615950C>T	ENSP00000422554:p.Glu791Lys	0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	p.E791K	NM_030955.2	NP_112217.2	0	0	0	1.967783	P58397	ATS12_HUMAN		15	2706	-			A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	1	1	hg19	c.2371G>A	CCDS34140.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472919	0.84640	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56941	0.43;0.43	5.35	5.35	0.76521	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.300984	0.35151	N	0.003404	T	0.74366	0.3707	M	0.89840	3.065	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.64877	0.73;0.93	T	0.74166	-0.3753	10	0.09338	T	0.73	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	706;791	P58397-3;P58397	.;ATS12_HUMAN	K	791;706	ENSP00000422554:E791K;ENSP00000344847:E706K	ENSP00000344847:E706K	E	-	1	0	0	ADAMTS12	33651707	33651707	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.034000	0.64152	2.481000	0.83766	0.561000	0.74099	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.321374	1	0.170000	NM_030955			92	91		488	482	1		1	0		0	0	107	0		1	9.995749e-01	0	0	0	62	0	92	488
ADAMTS12	81792	broad.mit.edu	37	5	33641986	33641986	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	549	TSP type-1 1. {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)			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						GGGACCAGGGTGACCAGCGGC	0.572										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				216						c.(1645-1647)tcA>tcG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							60.0	57.0	58.0					5																	33641986		2203	4300	6503	SO:0001819	synonymous_variant	81792	0	0					g.chr5:33641986T>C	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.1647A>G	chr5.hg19:g.33641986T>C		0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	p.S549S	NM_030955.2	NP_112217.2	0	0	0	1.967783	P58397	ATS12_HUMAN		11	1982	-			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	1	1	hg19	c.1647A>G	CCDS34140.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_030955			49	47		268	263	1		1	0		0	0	71	0		1	9.999445e-01	0	0	0	81	0	49	268
ADAMTS12	81792	broad.mit.edu	37	5	33649745	33649745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	416	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)			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						ACATGATGTACGGATGTCTGC	0.557										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				216						c.(1246-1248)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							177.0	150.0	159.0					5																	33649745		2203	4300	6503	SO:0001819	synonymous_variant	81792	1	121412	37				g.chr5:33649745C>T	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.1248G>A	chr5.hg19:g.33649745C>T		0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	p.P416P	NM_030955.2	NP_112217.2	0	0	0	1.967783	P58397	ATS12_HUMAN		8	1583	-			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	1	1	hg19	c.1248G>A	CCDS34140.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-19.999760	1	0.170000	NM_030955			51	50		299	294	1		1	0		0	0	87	0		1	9.999827e-01	0	0	0	97	0	51	299
RXFP3	51289	broad.mit.edu	37	5	33937494	33937494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	217					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)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCAAGGCGCTGTGTGTGTG	0.692																																						ENST00000330120.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				42						c.(649-651)Ctg>Ttg		relaxin/insulin-like family peptide receptor 3							29.0	30.0	30.0					5																	33937494		2202	4300	6502	SO:0001819	synonymous_variant	51289	0	0					g.chr5:33937494C>T	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.649C>T	chr5.hg19:g.33937494C>T		0						p.L217L	NM_016568.3	NP_057652.1	0	0	0	1.967783	Q9NSD7	RL3R1_HUMAN		1	1004	+			Q14DA5	Silent	SNP	ENST00000330120.3	1	1	hg19	c.649C>T	CCDS3900.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_016568			36	36		188	186	1		1			0	0	38	0		1	0	0	0	0	0	0	36	188
RXFP3	51289	broad.mit.edu	37	5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A	rs542295638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	468					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)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCAGCTCTGCCTACTGACG	0.726																																						ENST00000330120.3	0.970000	0.280000	7.700000e-01	4.100000e-01	0.570000	0.595986	0.570000	1.000000																										0				42						c.(1402-1404)Gcc>Acc		relaxin/insulin-like family peptide receptor 3							11.0	13.0	13.0					5																	33938247		2022	3966	5988	SO:0001583	missense	51289	0	0					g.chr5:33938247G>A	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.1402G>A	chr5.hg19:g.33938247G>A	ENSP00000328708:p.Ala468Thr	0						p.A468T	NM_016568.3	NP_057652.1	0	0	0	1.967783	Q9NSD7	RL3R1_HUMAN		1	1757	+			Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	1	1	hg19	c.1402G>A	CCDS3900.1	0	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507128	0.12883	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.64	2.77	0.32553	5.64	2.77	0.32553	.	0.501086	0.16447	N	0.214034	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	10	0.66056	D	0.02	-9.5993	5.1591	0.15050	0.1941:0.0:0.4271:0.3788	.	468	Q9NSD7	RL3R1_HUMAN	T	468	ENSP00000328708:A468T	ENSP00000328708:A468T	A	+	1	0	0	RXFP3	33974004	33974004	0.000000	0.05858	0.027000	0.17364	0.112000	0.19704	0.380000	0.20602	0.260000	0.21731	-0.181000	0.13052	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-12.192760	1	0.170000	NM_016568			9	9		177	175	0		1			0	0	31	0		9.942905e-01	0	0	0	0	0	0	9	177
SLC45A2	51151	broad.mit.edu	37	5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T	rs371334000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	523					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				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						ACAAAGAGAGCGACAAAGCAA	0.512																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				48						c.(1567-1569)Gct>Act		solute carrier family 45, member 2		C	THR/ALA	0,4406		0,0,2203	67.0	62.0	64.0		1567	5.7	1.0	5		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A2	NM_016180.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	523/531	33944779	1,13005	2203	4300	6503	SO:0001583	missense	51151	9	121412	38				g.chr5:33944779C>T	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.1567G>A	chr5.hg19:g.33944779C>T	ENSP00000296589:p.Ala523Thr	0					SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	p.A523T	NM_016180.3	NP_057264	0	0	0	1.967783	Q9UMX9	S45A2_HUMAN		7	1713	-			Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	1	1	hg19	c.1567G>A	CCDS3901.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484837	0.84854	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.88818	-2.43;-1.45	5.74	5.74	0.90152	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.113165	0.64402	D	0.000012	D	0.91784	0.7401	M	0.72479	2.2	0.80722	D	1	D	0.53462	0.96	P	0.51079	0.658	D	0.90334	0.4354	10	0.35671	T	0.21	-6.3658	19.9265	0.97104	0.0:1.0:0.0:0.0	.	523	Q9UMX9	S45A2_HUMAN	T	523;464	ENSP00000296589:A523T;ENSP00000341014:A464T	ENSP00000296589:A523T	A	-	1	0	0	SLC45A2	33980536	33980536	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.755000	0.68750	2.723000	0.93209	0.591000	0.81541	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.260267	1	0.170000	NM_016180			32	32		168	166	1		1			0	0	48	0		1	0	0	0	0	0	0	32	168
AMACR	23600	broad.mit.edu	37	5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000335606.6	-	5	1147	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|RP11-1084J3.4_ENST00000382079.3_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	353					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)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453																																						ENST00000335606.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1057-1059)atA>atG		alpha-methylacyl-CoA racemase							91.0	95.0	94.0					5																	33989288		2203	4300	6503	SO:0001583	missense	23600	0	0					g.chr5:33989288T>C	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.1059A>G	chr5.hg19:g.33989288T>C	ENSP00000334424:p.Ile353Met	0					AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR	p.I353M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	0	0	0	1.967783	Q9UHK6	AMACR_HUMAN		5	1147	-			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	1	1	hg19	c.1059A>G	CCDS3902.1	1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653167	0.67472	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58652	0.32;0.32;0.32	5.6	-3.41	0.04839	5.6	-3.41	0.04839	CoA-transferase family III domain (1);	0.157701	0.64402	D	0.000020	T	0.64193	0.2576	M	0.83603	2.65	0.80722	D	1	D;D;D	0.56746	0.977;0.96;0.96	D;P;P	0.63877	0.919;0.832;0.832	T	0.62642	-0.6811	10	0.59425	D	0.04	-6.6573	0.5428	0.00648	0.3107:0.1306:0.2361:0.3225	.	353;338;353	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	M	353;353;338	ENSP00000334424:I353M;ENSP00000371517:I353M;ENSP00000424351:I338M	ENSP00000334424:I353M	I	-	3	3	3	AMACR	34025045	34025045	0.408000	0.25360	0.953000	0.39169	0.897000	0.52465	-0.417000	0.07088	-0.358000	0.08162	0.519000	0.50382	ATA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_014324			63	62		312	307	1		1	1		0	0	57	0		1	9.999227e-01	0	23	0	48	0	63	312
RAI14	26064	broad.mit.edu	37	5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	103						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				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)					AATGCATCAGGAAGCTGCTTC	0.368																																						ENST00000265109.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999649	0.990000	1.000000																										0				56						c.(307-309)agG>agT		retinoic acid induced 14							52.0	51.0	51.0					5																	34803869		2203	4300	6503	SO:0001583	missense	26064	0	0					g.chr5:34803869G>T	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.309G>T	chr5.hg19:g.34803869G>T	ENSP00000265109:p.Arg103Ser	0					RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S	p.R103S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	0	0	0	1.967783	Q9P0K7	RAI14_HUMAN		5	596	+	all_lung(31;0.000191)		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	1	1	hg19	c.309G>T	CCDS34142.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559349	0.65538	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59169	0.2174	L	0.45352	1.415	0.43756	D	0.996265	B;B;B;B	0.23806	0.073;0.09;0.091;0.09	B;B;B;B	0.26770	0.033;0.055;0.073;0.055	T	0.54043	-0.8352	9	0.46703	T	0.11	-7.3379	18.5214	0.90954	0.0:0.0:1.0:0.0	.	95;103;106;103	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	103;103;103;103;103;103;103;103;103;103;106;103;103;95;96	ENSP00000265109:R103S;ENSP00000424879:R103S;ENSP00000422112:R103S;ENSP00000422377:R103S;ENSP00000388725:R103S;ENSP00000421424:R103S;ENSP00000422942:R103S;ENSP00000422515:R103S;ENSP00000422114:R103S;ENSP00000424502:R103S;ENSP00000427123:R106S;ENSP00000426770:R103S;ENSP00000425115:R103S;ENSP00000423854:R95S;ENSP00000380591:R96S	ENSP00000265109:R103S	R	+	3	2	2	RAI14	34839626	34839626	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.180000	0.65048	2.814000	0.96858	0.655000	0.94253	AGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_015577			17	17		72	71	1		1	1		0	0	26	0		9.999800e-01	9.999988e-01	0	2	0	116	0	17	72
RAI14	26064	broad.mit.edu	37	5	34823310	34823310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34823310C>A	ENST00000265109.3	+	15	1650	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	455						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				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)					GAGAAAACAGCTACAGGTCGA	0.423																																						ENST00000265109.3	0.470000	0.130000	3.800000e-01	1.900000e-01	0.270000	0.290014	0.270000	0.260000																										0				56						c.(1363-1365)Cta>Ata		retinoic acid induced 14							78.0	88.0	85.0					5																	34823310		2203	4300	6503	SO:0001583	missense	26064	0	0					g.chr5:34823310C>A	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.1363C>A	chr5.hg19:g.34823310C>A	ENSP00000265109:p.Leu455Ile	0					RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I	p.L455I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	0	0	0	1.967783	Q9P0K7	RAI14_HUMAN		15	1650	+	all_lung(31;0.000191)		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	0	1	hg19	c.1363C>A	CCDS34142.1	0	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939302	0.34189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.44	3.4	0.38934	5.44	3.4	0.38934	.	.	.	.	.	T	0.20373	0.0490	L	0.34521	1.04	0.42043	D	0.991085	P;D;D;D	0.58970	0.879;0.966;0.984;0.966	B;B;P;B	0.47827	0.36;0.284;0.558;0.184	T	0.05937	-1.0855	9	0.56958	D	0.05	-9.4135	2.818	0.05463	0.0:0.3753:0.2344:0.3903	.	447;426;458;455	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	455;426;455;455;458;447;448	ENSP00000265109:L455I;ENSP00000422377:L426I;ENSP00000388725:L455I;ENSP00000422942:L455I;ENSP00000427123:L458I;ENSP00000423854:L447I;ENSP00000380591:L448I	ENSP00000265109:L455I	L	+	1	2	2	RAI14	34859067	34859067	0.947000	0.32204	0.997000	0.53966	0.477000	0.33069	1.743000	0.38258	1.305000	0.44909	-0.266000	0.10368	CTA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.351074	1	0.170000	NM_015577			9	9		383	372	0		1	0		0	0	97	0		9.935623e-01	8.181452e-01	0	0	0	135	0	9	383
RAI14	26064	broad.mit.edu	37	5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	848						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				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)					CAAAGAGCAAGAAGTAAATGA	0.393																																						ENST00000265109.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				56						c.(2542-2544)Gaa>Taa		retinoic acid induced 14							51.0	54.0	53.0					5																	34824489		2202	4300	6502	SO:0001587	stop_gained	26064	0	0					g.chr5:34824489G>T	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.2542G>T	chr5.hg19:g.34824489G>T	ENSP00000265109:p.Glu848*	0					RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*	p.E848*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	0	0	0	1.967783	Q9P0K7	RAI14_HUMAN		15	2829	+	all_lung(31;0.000191)		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	0	1	hg19	c.2542G>T	CCDS34142.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.201637	0.98704	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9299	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	848;819;848;848;851;840;841	.	ENSP00000265109:E848X	E	+	1	0	0	RAI14	34860246	34860246	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	8.358000	0.90090	2.658000	0.90341	0.555000	0.69702	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_015577			53	53		296	290	1		1	1		0	0	83	0		1	9.999999e-01	0	4	0	136	0	53	296
AGXT2	64902	broad.mit.edu	37	5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	267					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378																																						ENST00000231420.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999269	0.990000	1.000000																										0				41						c.(799-801)Gag>Aag		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)						118.0	103.0	108.0					5																	35026586		2203	4300	6503	SO:0001583	missense	64902	0	0					g.chr5:35026586C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.799G>A	chr5.hg19:g.35026586C>T	ENSP00000231420:p.Glu267Lys	0						p.E267K	NM_031900.3	NP_114106.1	0	0	0	1.967783	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	8	999	-	all_lung(31;4.52e-05)		B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	1	1	hg19	c.799G>A	CCDS3908.1	1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233410	0.22626	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.7	5.7	0.88788	5.7	5.7	0.88788	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.329425	0.35838	N	0.002953	T	0.19485	0.0468	L	0.28014	0.82	0.40918	D	0.98428	B;B	0.30914	0.246;0.3	B;B	0.37091	0.241;0.105	T	0.04991	-1.0913	10	0.10111	T	0.7	-14.2225	19.438	0.94806	0.0:1.0:0.0:0.0	.	267;267	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	267	ENSP00000231420:E267K	ENSP00000231420:E267K	E	-	1	0	0	AGXT2	35062343	35062343	0.997000	0.39634	1.000000	0.80357	0.420000	0.31355	2.187000	0.42602	2.679000	0.91253	0.655000	0.94253	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.076339	1	0.170000	NM_031900			34	34		231	225	1		1			0	0	60	0		1	0	0	0	0	0	0	34	231
PRLR	5618	broad.mit.edu	37	5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	547					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)			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)	GGACACCTTGGCATACTCCTT	0.493																																						ENST00000382002.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999874	0.990000	1.000000																										0				48						c.(1639-1641)gCc>gAc		prolactin receptor	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)						95.0	87.0	90.0					5																	35065420		2203	4300	6503	SO:0001583	missense	5618	0	0					g.chr5:35065420G>T		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.1640C>A	chr5.hg19:g.35065420G>T	ENSP00000371432:p.Ala547Asp	0					PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron	p.A547D	NM_000949.5	NP_000940.1	0	0	0	1.967783	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	10	2066	-	all_lung(31;3.83e-05)		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	1	1	hg19	c.1640C>A	CCDS3909.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944679	0.34283	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89343	-2.5;-1.57;-2.5	5.77	4.9	0.64082	5.77	4.9	0.64082	.	0.246910	0.46145	D	0.000310	D	0.92195	0.7525	M	0.74881	2.28	0.26422	N	0.976087	P;D	0.56035	0.956;0.974	P;P	0.54590	0.575;0.756	D	0.87310	0.2311	10	0.72032	D	0.01	-4.9035	14.5909	0.68365	0.0697:0.0:0.9303:0.0	.	547;446	P16471;P16471-2	PRLR_HUMAN;.	D	446;547;446	ENSP00000339213:A446D;ENSP00000371432:A547D;ENSP00000422556:A446D	ENSP00000339213:A446D	A	-	2	0	0	PRLR	35101177	35101177	0.614000	0.27017	0.307000	0.25127	0.035000	0.12851	4.279000	0.58953	1.444000	0.47605	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-19.215160	1	0.170000				44	42		287	278	1		1	0		0	0	54	0		1	0	0	0	0	1	0	44	287
PRLR	5618	broad.mit.edu	37	5	35065452	35065452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000382002.5	-	10	2034	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.A346T|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	536					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)			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)	GAGTCCCGGGCTTCTTGGGCT	0.488																																						ENST00000382002.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				48						c.(1606-1608)aaG>aaA		prolactin receptor	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)						86.0	84.0	85.0					5																	35065452		2203	4300	6503	SO:0001819	synonymous_variant	5618	0	0					g.chr5:35065452C>T		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.1608G>A	chr5.hg19:g.35065452C>T		0					PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.A346T|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron	p.K536K	NM_000949.5	NP_000940.1	0	0	0	1.967783	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	10	2034	-	all_lung(31;3.83e-05)		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	1	1	hg19	c.1608G>A	CCDS3909.1	1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119560	0.08881	.	.	ENSG00000113494	ENST00000310101	T	0.76316	-1.01	5.77	2.92	0.33932	5.77	2.92	0.33932	.	.	.	.	.	T	0.71937	0.3399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63752	-0.6566	6	0.62326	D	0.03	-2.6829	3.6693	0.08268	0.1317:0.4836:0.2567:0.128	.	.	.	.	T	346	ENSP00000309008:A346T	ENSP00000309008:A346T	A	-	1	0	0	PRLR	35101209	35101209	0.002000	0.14202	0.076000	0.20297	0.003000	0.03518	-0.165000	0.09968	0.304000	0.22809	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	0		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000				51	49		313	307	1		1	0		0	0	67	0		1	2.051786e-02	0	0	0	2	0	51	313
PRLR	5618	broad.mit.edu	37	5	35068880	35068880	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000231423.3_Splice_Site	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor						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)			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)	CAGTGAAGTACCTATAGCCCT	0.398																																						ENST00000382002.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.e8+1		prolactin receptor	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)						125.0	115.0	119.0					5																	35068880		2203	4300	6503	SO:0001630	splice_region_variant	5618	0	0					g.chr5:35068880C>T		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.785+1G>A	chr5.hg19:g.35068880C>T		0					PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000397391.3_Intron		NM_000949.5	NP_000940.1	0	0	0	1.967783	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	8	1212	-	all_lung(31;3.83e-05)		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Splice_Site	SNP	ENST00000382002.5	1	1	hg19		CCDS3909.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667185	0.88251	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PRLR	35104637	35104637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.173000	0.71937	2.882000	0.98803	0.655000	0.94253	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000		Intron		57	56		259	254	1		1			0	0	80	0		1	0	0	0	0	0	0	57	259
PRLR	5618	broad.mit.edu	37	5	35072836	35072836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000231423.3_Silent_p.D128D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	128	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)	CCAAAGGAGGGTCTGGCTGAA	0.428																																						ENST00000382002.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(382-384)gaC>gaT		prolactin receptor	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)						97.0	92.0	94.0					5																	35072836		2203	4300	6503	SO:0001819	synonymous_variant	5618	0	0					g.chr5:35072836G>A		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.384C>T	chr5.hg19:g.35072836G>A		0					PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D	p.D128D	NM_000949.5	NP_000940.1	0	0	0	1.967783	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	6	810	-	all_lung(31;3.83e-05)		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	1	1	hg19	c.384C>T	CCDS3909.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000				63	63		307	295	1		1	0		0	0	57	0		1	0	0	0	0	1	0	63	307
SPEF2	79925	broad.mit.edu	37	5	35654711	35654711	+	Silent	SNP	C	C	T	rs2270558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35654711C>T	ENST00000356031.3	+	7	1015	c.861C>T	c.(859-861)gaC>gaT	p.D287D	SPEF2_ENST00000440995.2_Silent_p.D287D|SPEF2_ENST00000282469.6_Silent_p.D287D|SPEF2_ENST00000509059.1_Silent_p.D287D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	287					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)				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)			ACTCAGATGACGAGTACATTA	0.368													C|||	3391	0.677117	0.7194	0.683	5008	,	,		16471	0.7401		0.5229	False		,,,				2504	0.7096					ENST00000356031.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(859-861)gaC>gaT		sperm flagellar 2		C	,	3037,1369	672.6+/-402.7	1029,979,195	73.0	75.0	74.0		861,861	-3.9	1.0	5	dbSNP_100	74	4662,3938	602.0+/-394.5	1232,2198,870	no	coding-synonymous,coding-synonymous	SPEF2	NM_024867.3,NM_144722.3	,	2261,3177,1065	TT,TC,CC		45.7907,31.0713,40.8042	,	287/1823,287/515	35654711	7699,5307	2203	4300	6503	SO:0001819	synonymous_variant	79925	72961	121410	81				g.chr5:35654711C>T	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.861C>T	chr5.hg19:g.35654711C>T		0					SPEF2_ENST00000282469.6_Silent_p.D287D|SPEF2_ENST00000440995.2_Silent_p.D287D|SPEF2_ENST00000509059.1_Silent_p.D287D	p.D287D	NM_024867.3	NP_079143.3	0	0	0	1.967783	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	7	1015	+	all_lung(31;7.56e-05)		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	1	0	hg19	c.861C>T	CCDS43309.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-1.127116	0	0.170000	NM_144722			91	91		426	413	1		1	0		0	0	81	0		1	6.521079e-01	0	0	0	12	0	91	426
SPEF2	79925	broad.mit.edu	37	5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000356031.3	+	11	1838	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G562*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	562					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)				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)			TGCTGTTAAAGGATGCTTATT	0.403																																						ENST00000356031.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1684-1686)Gga>Tga		sperm flagellar 2							131.0	132.0	132.0					5																	35691298		1866	4092	5958	SO:0001587	stop_gained	79925	0	0					g.chr5:35691298G>T	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.1684G>T	chr5.hg19:g.35691298G>T	ENSP00000348314:p.Gly562*	0					SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*	p.G562*	NM_024867.3	NP_079143.3	0	0	0	1.967783	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	11	1838	+	all_lung(31;7.56e-05)		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	0	1	hg19	c.1684G>T	CCDS43309.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.879303	0.97055	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.198962	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4062	0.87474	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;562;73	.	ENSP00000348314:G562X	G	+	1	0	0	SPEF2	35727055	35727055	1.000000	0.71417	0.970000	0.41538	0.456000	0.32438	4.705000	0.61838	2.628000	0.89032	0.585000	0.79938	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.095476	1	0.170000	NM_144722			83	80		408	405	0		1	0		0	0	93	0		1	2.709082e-01	0	0	0	6	0	83	408
SPEF2	79925	broad.mit.edu	37	5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000356031.3	+	22	3243	c.3089A>G	c.(3088-3090)tAc>tGc	p.Y1030C	SPEF2_ENST00000440995.2_Missense_Mutation_p.Y1025C|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1030					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)				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)			TTAGTACCTTACTGGGAACTA	0.338																																						ENST00000356031.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3088-3090)tAc>tGc		sperm flagellar 2							77.0	71.0	73.0					5																	35740046		1826	4079	5905	SO:0001583	missense	79925	0	0					g.chr5:35740046A>G	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.3089A>G	chr5.hg19:g.35740046A>G	ENSP00000348314:p.Tyr1030Cys	0					SPEF2_ENST00000440995.2_Missense_Mutation_p.Y1025C|CTD-2113L7.1_ENST00000510433.1_RNA	p.Y1030C	NM_024867.3	NP_079143.3	0	0	0	1.967783	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	22	3243	+	all_lung(31;7.56e-05)		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	1	1	hg19	c.3089A>G	CCDS43309.1	1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649146	0.67358	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.83	4.63	0.57726	5.83	4.63	0.57726	.	0.217033	0.39146	N	0.001450	T	0.27241	0.0668	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	T	0.01056	-1.1466	10	0.72032	D	0.01	.	12.3798	0.55301	0.8742:0.0:0.0:0.1258	.	1025;1030	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1030;1025	ENSP00000348314:Y1030C;ENSP00000412125:Y1025C	ENSP00000348314:Y1030C	Y	+	2	0	0	SPEF2	35775803	35775803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	2.236000	0.73375	0.533000	0.62120	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_144722			49	49		243	237	1		1			0	0	64	0		1	0	0	0	0	0	0	49	243
SPEF2	79925	broad.mit.edu	37	5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000356031.3	+	23	3462	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	SPEF2_ENST00000440995.2_Missense_Mutation_p.A1098V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1103					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)				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)			GAAACAAAGGCTGAACTACAT	0.448																																						ENST00000356031.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(3307-3309)gCt>gTt		sperm flagellar 2							148.0	134.0	139.0					5																	35740347		1961	4157	6118	SO:0001583	missense	79925	0	0					g.chr5:35740347C>T	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.3308C>T	chr5.hg19:g.35740347C>T	ENSP00000348314:p.Ala1103Val	0					SPEF2_ENST00000440995.2_Missense_Mutation_p.A1098V|CTD-2113L7.1_ENST00000510433.1_RNA	p.A1103V	NM_024867.3	NP_079143.3	0	0	0	1.967783	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	23	3462	+	all_lung(31;7.56e-05)		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	1	1	hg19	c.3308C>T	CCDS43309.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442304	0.83993	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08193	3.12;3.12	5.83	4.94	0.65067	5.83	4.94	0.65067	.	0.328508	0.31082	N	0.008292	T	0.19685	0.0473	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.792	P;B	0.54270	0.747;0.326	T	0.00551	-1.1675	10	0.66056	D	0.02	.	12.3549	0.55169	0.1337:0.7376:0.1287:0.0	.	1098;1103	Q9C093-2;Q9C093	.;SPEF2_HUMAN	V	1103;1098	ENSP00000348314:A1103V;ENSP00000412125:A1098V	ENSP00000348314:A1103V	A	+	2	0	0	SPEF2	35776104	35776104	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.419000	0.47118	0.655000	0.94253	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_144722			86	81		508	504	1		1			0	0	109	0		1	0	0	0	0	0	0	86	508
IL7R	3575	broad.mit.edu	37	5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	405					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)			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)			CCAGGACCTCCTGCTTAGCCT	0.542			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5p13	5p13	146661	Mis, O	interleukin 7 receptor	yes	yes	Severe combined immune deficiency	L	L			ALL, ETP ALL		0				126						c.(1213-1215)Ctg>Atg		interleukin 7 receptor							106.0	91.0	96.0					5																	35876421		2203	4300	6503	SO:0001583	missense	3575	0	0					g.chr5:35876421C>A	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.1213C>A	chr5.hg19:g.35876421C>A	ENSP00000306157:p.Leu405Met	0					IL7R_ENST00000343305.4_3'UTR	p.L405M	NM_002185.3	NP_002176.2	0	0	0	1.967783	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)	8	1342	+	all_lung(31;0.00015)		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	1	1	hg19	c.1213C>A	CCDS3911.1	1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999598	0.19121	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.56611	1.57;0.45	5.6	1.84	0.25277	5.6	1.84	0.25277	.	1.733490	0.03338	N	0.194382	T	0.67832	0.2935	M	0.66939	2.045	0.09310	N	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.30794	-0.9966	10	0.49607	T	0.09	-5.7828	4.1864	0.10400	0.1611:0.5833:0.0:0.2555	.	405	P16871	IL7RA_HUMAN	M	405;171	ENSP00000306157:L405M;ENSP00000420923:L171M	ENSP00000306157:L405M	L	+	1	2	2	IL7R	35912178	35912178	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.328000	0.19681	0.048000	0.15891	-0.961000	0.02630	CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2	1	0	0		16	2	2	0		0	1	59		59	57	1	2.060000	-20.000000	1	0.170000				55	52		231	224	1		1	0		0	0	59	0		9.999998e-01	9.999938e-01	0	0	0	78	0	55	231
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			GTCACTCTGAGGAAGCCAGTC	0.498																																						ENST00000274278.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999885	0.990000	1.000000																										0				46						c.(1057-1059)cCt>cTt		UDP glycosyltransferase 3 family, polypeptide A1							98.0	85.0	90.0					5																	35957307		2203	4300	6503	SO:0001583	missense	133688	0	0					g.chr5:35957307G>A		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.1058C>T	chr5.hg19:g.35957307G>A	ENSP00000274278:p.Pro353Leu	0					UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR	p.P353L	NM_152404.3	NP_689617.3	0	0	0	1.967783	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	5	1415	-	all_lung(31;0.000197)		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	1	1	hg19	c.1058C>T	CCDS3913.1	1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740034	0.49045	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	D;D;D	0.83163	-1.69;-1.69;-1.69	3.01	3.01	0.34805	3.01	3.01	0.34805	.	0.076413	0.52532	D	0.000061	D	0.93527	0.7934	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.998	D	0.95307	0.8408	10	0.87932	D	0	.	13.5811	0.61903	0.0:0.0:1.0:0.0	.	319;353;353	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	L	353;353;319	ENSP00000274278:P353L;ENSP00000427079:P353L;ENSP00000426100:P319L	ENSP00000274278:P353L	P	-	2	0	0	UGT3A1	35993064	35993064	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	7.165000	0.77544	1.615000	0.50252	0.467000	0.42956	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_152404			32	30		183	177	1		1			0	0	51	0		1	0	0	0	0	0	0	32	183
UGT3A1	133688	broad.mit.edu	37	5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000274278.3	-	4	1113	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			CAAAGGCAAAATCAGAGTTAA	0.433																																						ENST00000274278.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(754-756)gaT>gaG		UDP glycosyltransferase 3 family, polypeptide A1							116.0	117.0	117.0					5																	35965575		2203	4300	6503	SO:0001583	missense	133688	0	0					g.chr5:35965575A>C		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.756T>G	chr5.hg19:g.35965575A>C	ENSP00000274278:p.Asp252Glu	0					UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron	p.D252E	NM_152404.3	NP_689617.3	0	0	0	1.967783	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	4	1113	-	all_lung(31;0.000197)		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	1	1	hg19	c.756T>G	CCDS3913.1	1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617917	0.46736	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.05	0.95	0.19572	3.05	0.95	0.19572	.	0.000000	0.64402	D	0.000001	T	0.73613	0.3609	M	0.88704	2.975	0.37020	D	0.896172	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.975;0.99;0.992;0.99	T	0.73119	-0.4083	10	0.32370	T	0.25	.	8.1298	0.31020	0.2254:0.0:0.7746:0.0	.	218;252;198;252	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	252;252;218;198	ENSP00000274278:D252E;ENSP00000427079:D252E;ENSP00000426100:D218E;ENSP00000328033:D198E	ENSP00000274278:D252E	D	-	3	2	2	UGT3A1	36001332	36001332	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	0.433000	0.21477	0.091000	0.17302	-0.736000	0.03550	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_152404			77	75		390	383	1		1			0	0	76	0		1	0	0	0	0	0	0	77	390
UGT3A1	133688	broad.mit.edu	37	5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000274278.3	-	4	847	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	164						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			GGAAGAATGGCCACAAATGGT	0.418																																						ENST00000274278.3	1.000000	0.760000	1	9.100000e-01	0.990000	0.969727	0.990000	1.000000																										0				46						c.(490-492)Gcc>Acc		UDP glycosyltransferase 3 family, polypeptide A1							73.0	70.0	71.0					5																	35965841		2203	4300	6503	SO:0001583	missense	133688	0	0					g.chr5:35965841C>T		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.490G>A	chr5.hg19:g.35965841C>T	ENSP00000274278:p.Ala164Thr	0					UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron	p.A164T	NM_152404.3	NP_689617.3	0	0	0	1.967783	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	4	847	-	all_lung(31;0.000197)		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	1	1	hg19	c.490G>A	CCDS3913.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547282	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	2.93	-1.91	0.07641	2.93	-1.91	0.07641	.	0.258333	0.29119	N	0.013088	T	0.52901	0.1763	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.49358	0.923;0.571;0.317;0.237	P;B;B;B	0.51550	0.673;0.292;0.267;0.292	T	0.56475	-0.7973	10	0.72032	D	0.01	.	12.1012	0.53785	0.2525:0.7475:0.0:0.0	.	130;164;110;164	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	164;164;130;110	ENSP00000274278:A164T;ENSP00000427079:A164T;ENSP00000426100:A130T;ENSP00000328033:A110T	ENSP00000274278:A164T	A	-	1	0	0	UGT3A1	36001598	36001598	0.000000	0.05858	0.005000	0.12908	0.436000	0.31835	-0.692000	0.05127	-0.086000	0.12550	0.313000	0.20887	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_152404			29	26		275	270	0		1			0	0	65	0		1	0	0	0	0	0	0	29	275
UGT3A1	133688	broad.mit.edu	37	5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000274278.3	-	4	741	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	128						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			CCATTATATCCTTTCTGCTTA	0.308																																						ENST00000274278.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				46						c.(382-384)aaG>aaT		UDP glycosyltransferase 3 family, polypeptide A1							43.0	43.0	43.0					5																	35965947		2203	4300	6503	SO:0001583	missense	133688	0	0					g.chr5:35965947C>A		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.384G>T	chr5.hg19:g.35965947C>A	ENSP00000274278:p.Lys128Asn	0					UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron	p.K128N	NM_152404.3	NP_689617.3	0	0	0	1.967783	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	4	741	-	all_lung(31;0.000197)		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	1	1	hg19	c.384G>T	CCDS3913.1	1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762943	0.31228	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.0	0.921	0.19403	3.0	0.921	0.19403	.	1.432420	0.04533	N	0.386617	T	0.55721	0.1938	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.17038	0.007;0.02;0.004;0.011	B;B;B;B	0.23716	0.015;0.048;0.007;0.033	T	0.44050	-0.9353	10	0.59425	D	0.04	.	3.3871	0.07276	0.4313:0.3496:0.0:0.2191	.	94;128;74;128	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	N	128;128;94;74	ENSP00000274278:K128N;ENSP00000427079:K128N;ENSP00000426100:K94N;ENSP00000328033:K74N	ENSP00000274278:K128N	K	-	3	2	2	UGT3A1	36001704	36001704	0.000000	0.05858	0.005000	0.12908	0.737000	0.42083	-0.697000	0.05098	0.029000	0.15352	0.313000	0.20887	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.699014	1	0.170000	NM_152404			41	40		232	226	1		1			0	0	61	0		1	0	0	0	0	0	0	41	232
UGT3A1	133688	broad.mit.edu	37	5	35988604	35988604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35988604C>A	ENST00000274278.3	-	2	501	c.144G>T	c.(142-144)gaG>gaT	p.E48D	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000507113.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	48						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			TATGACCATGCTCTTGAAGAA	0.343																																						ENST00000274278.3	1.000000	0.420000	9.000000e-01	5.500000e-01	0.710000	0.726523	0.710000	1.000000																										0				46						c.(142-144)gaG>gaT		UDP glycosyltransferase 3 family, polypeptide A1							89.0	85.0	87.0					5																	35988604		2203	4300	6503	SO:0001583	missense	133688	0	0					g.chr5:35988604C>A		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.144G>T	chr5.hg19:g.35988604C>A	ENSP00000274278:p.Glu48Asp	0					UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron	p.E48D	NM_152404.3	NP_689617.3	0	0	0	1.967783	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	2	501	-	all_lung(31;0.000197)		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	1	1	hg19	c.144G>T	CCDS3913.1	0	.	.	.	.	.	.	.	.	.	.	C	1.370	-0.586342	0.03827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.61859	0.07;0.07	3.2	-3.12	0.05282	3.2	-3.12	0.05282	.	0.820851	0.10380	N	0.681632	T	0.16727	0.0402	N	0.00566	-1.37	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.21655	-1.0239	10	0.14656	T	0.56	.	2.8826	0.05652	0.2244:0.5073:0.1148:0.1535	.	48;48	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	D	48	ENSP00000274278:E48D;ENSP00000427079:E48D	ENSP00000274278:E48D	E	-	3	2	2	UGT3A1	36024361	36024361	0.716000	0.27956	0.976000	0.42696	0.404000	0.30871	-0.858000	0.04281	-0.339000	0.08401	-0.538000	0.04264	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-5.688280	1	0.170000	NM_152404			15	15		230	229	0		1			0	0	65	0		9.998829e-01	0	0	0	0	0	0	15	230
UGT3A2	167127	broad.mit.edu	37	5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000282507.3	-	6	1222	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	374					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			CTCCATTATGCTATTCTGCCC	0.493																																						ENST00000282507.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1120-1122)aGc>aAc		UDP glycosyltransferase 3 family, polypeptide A2							78.0	81.0	80.0					5																	36038073		2203	4300	6503	SO:0001583	missense	167127	0	0					g.chr5:36038073C>T		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.1121G>A	chr5.hg19:g.36038073C>T	ENSP00000282507:p.Ser374Asn	0					UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	p.S374N	NM_174914.3	NP_777574.2	0	0	0	1.967783	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	6	1222	-	all_lung(31;0.000179)		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	1	1	hg19	c.1121G>A	CCDS3914.1	1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707516	0.68615	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76578	-1.03;-1.03;2.04	3.32	3.32	0.38043	3.32	3.32	0.38043	.	0.000000	0.85682	U	0.000000	D	0.90793	0.7109	H	0.95402	3.665	0.41111	D	0.985742	P;D	0.89917	0.89;1.0	P;D	0.76071	0.758;0.987	D	0.93692	0.7008	10	0.87932	D	0	.	14.5961	0.68407	0.0:1.0:0.0:0.0	.	340;374	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	374;340;72	ENSP00000282507:S374N;ENSP00000427404:S340N;ENSP00000445367:S72N	ENSP00000282507:S374N	S	-	2	0	0	UGT3A2	36073830	36073830	0.866000	0.29940	0.464000	0.27143	0.662000	0.39071	4.879000	0.63100	2.159000	0.67721	0.563000	0.77884	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.381178	1	0.170000	NM_174914			86	85		394	387	1		1			0	0	64	0		1	0	0	0	0	0	0	86	394
UGT3A2	167127	broad.mit.edu	37	5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000282507.3	-	4	877	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			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)			AAGCAGAGGTCGAGCAAAATC	0.423																																						ENST00000282507.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(775-777)cGa>cAa		UDP glycosyltransferase 3 family, polypeptide A2							137.0	132.0	134.0					5																	36049058		2203	4300	6503	SO:0001583	missense	167127	2	121408	37				g.chr5:36049058C>T		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.776G>A	chr5.hg19:g.36049058C>T	ENSP00000282507:p.Arg259Gln	0					UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000545528.1_Intron	p.R259Q	NM_174914.3	NP_777574.2	0	0	0	1.967783	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	4	877	-	all_lung(31;0.000179)		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	1	1	hg19	c.776G>A	CCDS3914.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611891	0.46631	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61510	0.1;0.1	3.45	2.58	0.30949	3.45	2.58	0.30949	.	0.305261	0.27495	N	0.019106	T	0.50463	0.1617	M	0.75150	2.29	0.80722	D	1	B;P	0.38711	0.327;0.643	B;B	0.33196	0.148;0.159	T	0.53627	-0.8412	10	0.54805	T	0.06	.	7.1791	0.25761	0.0:0.7815:0.0:0.2185	.	225;259	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	259;225	ENSP00000282507:R259Q;ENSP00000427404:R225Q	ENSP00000282507:R259Q	R	-	2	0	0	UGT3A2	36084815	36084815	0.005000	0.15991	0.830000	0.32933	0.940000	0.58332	1.044000	0.30329	1.034000	0.39945	0.655000	0.94253	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_174914			89	89		396	391	1		1			0	0	82	0		1	0	0	0	0	0	0	89	396
LMBRD2	92255	broad.mit.edu	37	5	36108727	36108727	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	602						integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)			TGTGTCCATAACGTTCTTTCC	0.303																																						ENST00000296603.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				35						c.(1804-1806)cgT>cgG		LMBR1 domain containing 2							119.0	110.0	113.0					5																	36108727		2202	4300	6502	SO:0001819	synonymous_variant	92255	0	0					g.chr5:36108727A>C		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.1806T>G	chr5.hg19:g.36108727A>C		0						p.R602R	NM_001007527.1	NP_001007528.1	0	0	0	1.967783	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	16	2268	-	all_lung(31;0.000146)		B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	1	1	hg19	c.1806T>G	CCDS34145.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_001007527			25	25		94	92	1		1	1		0	0	38	0		9.999999e-01	9.973222e-01	0	13	0	26	0	25	94
LMBRD2	92255	broad.mit.edu	37	5	36122989	36122989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)			CACTTGGATAGATACTATGCT	0.269																																						ENST00000296603.4	1.000000	0.570000	1	7.000000e-01	0.860000	0.856276	0.860000	1.000000																										0				35						c.(895-897)atC>atT		LMBR1 domain containing 2							70.0	75.0	73.0					5																	36122989		2201	4288	6489	SO:0001819	synonymous_variant	92255	0	0					g.chr5:36122989G>A		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.897C>T	chr5.hg19:g.36122989G>A		0						p.I299I	NM_001007527.1	NP_001007528.1	0	0	0	1.967783	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	8	1359	-	all_lung(31;0.000146)		B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	1	1	hg19	c.897C>T	CCDS34145.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.318805	1	0.170000	NM_001007527			23	22		284	279	0		1	1		0	0	38	0		9.999993e-01	7.623030e-01	0	3	0	33	0	23	284
LMBRD2	92255	broad.mit.edu	37	5	36141208	36141208	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)			CTGTAACTTACCATGTTAAAA	0.313																																						ENST00000296603.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.e4+1		LMBR1 domain containing 2							66.0	64.0	65.0					5																	36141208		2203	4300	6503	SO:0001630	splice_region_variant	92255	0	0					g.chr5:36141208C>T		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.368+1G>A	chr5.hg19:g.36141208C>T		0							NM_001007527.1	NP_001007528.1	0	0	0	1.967783	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	4	831	-	all_lung(31;0.000146)		B3KRB6|Q9NTC7	Splice_Site	SNP	ENST00000296603.4	1	1	hg19		CCDS34145.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315342	0.81358	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LMBRD2	36176965	36176965	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.350000	0.79385	2.491000	0.84063	0.650000	0.86243	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-19.999840	1	0.170000	NM_001007527	Intron		45	45		230	225	1		1	1		0	0	68	0		1	2.624910e-01	0	5	0	1	0	45	230
SKP2	6502	broad.mit.edu	37	5	36168460	36168460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.E194E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507																																						ENST00000274255.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(580-582)gaA>gaG		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							238.0	243.0	241.0					5																	36168460		2203	4300	6503	SO:0001819	synonymous_variant	6502	0	0					g.chr5:36168460A>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.582A>G	chr5.hg19:g.36168460A>G		0					SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	p.E194E	NM_005983.3	NP_005974.2	0	0	0	1.967783	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	5	778	+	all_lung(31;5.63e-05)		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	1	1	hg19	c.582A>G	CCDS3916.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	1	0	1		2	2	2	0		0	0	250		250	249	1	2.060000	-20.000000	1	0.170000	NM_005983			260	254		1034	1014	1		1	1		0	0	250	0		1	9.772424e-01	0	11	0	15	0	260	1034
RANBP3L	202151	broad.mit.edu	37	5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	331	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363																																						ENST00000296604.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999779	0.990000	1.000000																										0				16						c.(991-993)aGc>aTc		RAN binding protein 3-like							211.0	170.0	184.0					5																	36255604		2203	4299	6502	SO:0001583	missense	202151	0	0					g.chr5:36255604C>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.992G>T	chr5.hg19:g.36255604C>A	ENSP00000296604:p.Ser331Ile	0					RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	p.S331I	NM_145000.3	NP_659437.3	0	0	0	1.967783	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)	11	1477	-	all_lung(31;4.52e-05)		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	1	1	hg19	c.992G>T	CCDS3918.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641773	0.67244	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.44083	0.93;0.93	5.87	3.89	0.44902	5.87	3.89	0.44902	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.454909	0.24345	N	0.039337	T	0.60196	0.2250	M	0.77313	2.365	0.39277	D	0.964496	D;D	0.61080	0.984;0.989	D;D	0.68943	0.961;0.919	T	0.65483	-0.6157	10	0.87932	D	0	-0.023	8.1223	0.30978	0.0:0.7124:0.1307:0.1569	.	356;331	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	331;356	ENSP00000296604:S331I;ENSP00000421853:S356I	ENSP00000296604:S331I	S	-	2	0	0	RANBP3L	36291361	36291361	0.827000	0.29292	0.990000	0.47175	0.982000	0.71751	1.325000	0.33724	1.463000	0.47967	0.655000	0.94253	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-19.996700	1	0.170000	NM_145000			59	59		430	422	1		1	0		0	0	86	0		1	1.169194e-01	0	0	0	5	0	59	430
NIPBL	25836	broad.mit.edu	37	5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	137					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)			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)			GCACAGTAGTCCTGCATCTTC	0.328																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(409-411)Cct>Tct		Nipped-B homolog (Drosophila)							150.0	148.0	149.0					5																	36961636		2203	4299	6502	SO:0001583	missense	25836	1	121402	30				g.chr5:36961636C>T	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.409C>T	chr5.hg19:g.36961636C>T	ENSP00000282516:p.Pro137Ser	0					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	5	908	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.409C>T	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164427	0.78339	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.204155	0.42821	D	0.000642	D	0.96531	0.8868	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.69078	0.994;0.997	P;P	0.59357	0.637;0.856	D	0.95418	0.8504	10	0.30078	T	0.28	.	18.2672	0.90055	0.0:1.0:0.0:0.0	.	137;137	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	137	ENSP00000282516:P137S;ENSP00000406266:P137S	ENSP00000282516:P137S	P	+	1	0	0	NIPBL	36997393	36997393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.481000	0.83766	0.655000	0.94253	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_015384			71	70		387	382	1		1	1		0	0	104	0		1	9.970595e-01	0	7	0	43	0	71	387
NIPBL	25836	broad.mit.edu	37	5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1140					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)			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)			GGAAGAAGGAGTTCAGGTGGT	0.453																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(3418-3420)aGt>aAt		Nipped-B homolog (Drosophila)							169.0	163.0	165.0					5																	37000589		2203	4300	6503	SO:0001583	missense	25836	0	0					g.chr5:37000589G>A	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.3419G>A	chr5.hg19:g.37000589G>A	ENSP00000282516:p.Ser1140Asn	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	12	3918	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.3419G>A	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975683	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93366	-3.21;-3.21	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.098581	0.64402	D	0.000001	D	0.84306	0.5443	N	0.08118	0	0.36449	D	0.865984	B;B	0.30281	0.039;0.275	B;B	0.27715	0.011;0.082	D	0.84191	0.0445	10	0.25106	T	0.35	.	12.7995	0.57578	0.0:0.1238:0.7477:0.1285	.	1140;1140	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1140	ENSP00000282516:S1140N;ENSP00000406266:S1140N	ENSP00000282516:S1140N	S	+	2	0	0	NIPBL	37036346	37036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.759000	0.94783	0.591000	0.81541	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-20.000000	1	0.170000	NM_015384			68	65		352	343	1		1	1		0	0	92	0		1	9.999762e-01	0	22	0	60	0	68	352
NIPBL	25836	broad.mit.edu	37	5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1190					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)			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)			AAACTAACACCTGAAGGTAAC	0.299																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				128						c.(3568-3570)cCt>cAt		Nipped-B homolog (Drosophila)							79.0	79.0	79.0					5																	37000985		2202	4298	6500	SO:0001583	missense	25836	0	0					g.chr5:37000985C>A	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.3569C>A	chr5.hg19:g.37000985C>A	ENSP00000282516:p.Pro1190His	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	13	4068	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.3569C>A	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126788	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.19;-3.2	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.125114	0.56097	D	0.000033	D	0.90086	0.6903	L	0.36672	1.1	0.42382	D	0.992496	B;B	0.30741	0.293;0.261	B;B	0.19946	0.022;0.027	D	0.87524	0.2448	10	0.52906	T	0.07	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1190;1190	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1190	ENSP00000282516:P1190H;ENSP00000406266:P1190H	ENSP00000282516:P1190H	P	+	2	0	0	NIPBL	37036742	37036742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.719000	0.47244	2.791000	0.96007	0.650000	0.86243	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-2.935620	1	0.170000	NM_015384			26	26		127	124	1		1	1		0	0	57	0		1	9.998470e-01	0	23	0	49	0	26	127
NIPBL	25836	broad.mit.edu	37	5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1673					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)			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)			CAGTTTTCTCGTAAATTCTAT	0.343																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999732	0.990000	1.000000																										0				128						c.(5017-5019)cGt>cAt		Nipped-B homolog (Drosophila)							67.0	62.0	64.0					5																	37020568		2203	4297	6500	SO:0001583	missense	25836	1	121408	28				g.chr5:37020568G>A	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.5018G>A	chr5.hg19:g.37020568G>A	ENSP00000282516:p.Arg1673His	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	26	5517	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.5018G>A	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592420	0.86953	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94280	-3.39;-3.39	5.59	5.59	0.84812	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.69523	2.12	0.58432	D	0.999998	P;D	0.55385	0.915;0.971	B;P	0.49451	0.406;0.611	D	0.93068	0.6480	10	0.31617	T	0.26	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	1673;1673	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1673	ENSP00000282516:R1673H;ENSP00000406266:R1673H	ENSP00000282516:R1673H	R	+	2	0	0	NIPBL	37056325	37056325	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.403000	0.73264	2.647000	0.89833	0.585000	0.79938	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_015384			30	29		179	174	1		1	1		0	0	49	0		1	9.999949e-01	0	29	0	90	0	30	179
NIPBL	25836	broad.mit.edu	37	5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					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)			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)			GCACTATGTCGGCATTTTGAT	0.363																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(6454-6456)cGg>cAg		Nipped-B homolog (Drosophila)							204.0	210.0	208.0					5																	37045656		2203	4300	6503	SO:0001583	missense	25836	1	121412	34				g.chr5:37045656G>A	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.6455G>A	chr5.hg19:g.37045656G>A	ENSP00000282516:p.Arg2152Gln	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	37	6954	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.6455G>A	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.601606	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65732	-0.17;-0.17	5.52	5.52	0.82312	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.77225	-0.2666	10	0.51188	T	0.08	-7.466	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	2152	ENSP00000282516:R2152Q;ENSP00000406266:R2152Q	ENSP00000282516:R2152Q	R	+	2	0	0	NIPBL	37081413	37081413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.388000	0.97237	2.753000	0.94483	0.557000	0.71058	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-3.557305	1	0.170000	NM_015384			219	215		891	869	1		1	1		0	0	186	0		1	1	0	25	0	102	0	219	891
NIPBL	25836	broad.mit.edu	37	5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2333					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)			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)			CCAGAACCTGCTATGCGGAAC	0.318																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(6997-6999)gCt>gTt		Nipped-B homolog (Drosophila)							85.0	89.0	87.0					5																	37051924		2203	4300	6503	SO:0001583	missense	25836	0	0					g.chr5:37051924C>T	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.6998C>T	chr5.hg19:g.37051924C>T	ENSP00000282516:p.Ala2333Val	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	41	7497	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.6998C>T	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.69	5.69	0.88448	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.177968	0.49916	D	0.000135	T	0.41949	0.1181	N	0.04090	-0.28	0.43110	D	0.99481	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.009;0.012;0.005	T	0.37663	-0.9696	10	0.11794	T	0.64	-12.0814	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2333;2333;2333	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2333	ENSP00000282516:A2333V;ENSP00000406266:A2333V	ENSP00000282516:A2333V	A	+	2	0	0	NIPBL	37087681	37087681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.685000	0.91497	0.557000	0.71058	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_015384			60	58		214	212	1		1	1		0	0	66	0		1	1	0	32	0	99	0	60	214
NIPBL	25836	broad.mit.edu	37	5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2335					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)			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)			ACCTGCTATGCGGAACAAGGC	0.313																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				128						c.(7003-7005)Cgg>Tgg		Nipped-B homolog (Drosophila)							82.0	87.0	85.0					5																	37051929		2203	4300	6503	SO:0001583	missense	25836	0	0					g.chr5:37051929C>T	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.7003C>T	chr5.hg19:g.37051929C>T	ENSP00000282516:p.Arg2335Trp	0					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	41	7502	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	1	1	hg19	c.7003C>T	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828942	0.71258	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.73363	-0.74;-0.74	5.69	3.78	0.43462	5.69	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.81341	2.54	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.985	D	0.86754	0.1962	10	0.72032	D	0.01	-6.7737	14.2046	0.65725	0.4468:0.5532:0.0:0.0	.	2335;2335;2335	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2335	ENSP00000282516:R2335W;ENSP00000406266:R2335W	ENSP00000282516:R2335W	R	+	1	2	2	NIPBL	37087686	37087686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.838000	0.39211	0.593000	0.29745	0.557000	0.71058	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-3.338836	1	0.170000	NM_015384			44	43		233	230	1		1	1		0	0	66	0		1	9.999999e-01	0	19	0	121	0	44	233
NIPBL	25836	broad.mit.edu	37	5	37059079	37059079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2499					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)			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)			AAGTTTCCAGGCCTCGGAAGT	0.378																																						ENST00000282516.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				128						c.(7495-7497)agG>agA		Nipped-B homolog (Drosophila)							121.0	123.0	122.0					5																	37059079		2203	4300	6503	SO:0001819	synonymous_variant	25836	0	0					g.chr5:37059079G>A	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.7497G>A	chr5.hg19:g.37059079G>A		0					NIPBL_ENST00000448238.2_Silent_p.R2499R	p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	0	0	0	1.967783	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)	44	7996	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	1	1	hg19	c.7497G>A	CCDS3920.1	1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103346	0.20632	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.85	0.934	0.19477	5.85	0.934	0.19477	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-10.4478	6.6505	0.22959	0.3878:0.1117:0.5005:0.0	.	.	.	.	D	5	.	.	G	+	2	0	0	NIPBL	37094836	37094836	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.177000	0.31969	0.098000	0.17522	-0.251000	0.11542	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_015384			64	64		392	389	1		1	1		0	0	92	0		1	1	0	34	0	126	0	64	392
C5orf42	65250	broad.mit.edu	37	5	37138820	37138820	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000508244.1	-	44	8724		c.e44+1		C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				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)			TTCAATGATTACCTGGAGGTG	0.308																																						ENST00000508244.1	1.000000	0.560000	9.400000e-01	6.700000e-01	0.800000	0.809677	0.800000	1.000000																										0				79						c.e44+1		chromosome 5 open reading frame 42							118.0	123.0	122.0					5																	37138820		2203	4300	6503	SO:0001630	splice_region_variant	65250	0	0					g.chr5:37138820A>G		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.8630+1T>C	chr5.hg19:g.37138820A>G		0					C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	44	8724	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	1	1	hg19		CCDS34146.2	0	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387604	0.42308	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1914	0.59713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	C5orf42	37174577	37174577	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.857000	0.62939	2.112000	0.64535	0.533000	0.62120	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-8.513098	1	0.170000	NM_023073	Intron		33	33		442	437	0		1			0	0	94	0		1	0	0	0	0	0	0	33	442
C5orf42	65250	broad.mit.edu	37	5	37153929	37153929	+	Silent	SNP	G	G	A	rs114126795	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37153929G>A	ENST00000508244.1	-	40	8217	c.8124C>T	c.(8122-8124)gaC>gaT	p.D2708D	C5orf42_ENST00000274258.7_Silent_p.D1606D|C5orf42_ENST00000425232.2_Silent_p.D2708D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2708						integral component of membrane (GO:0016021)				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)			GCAACTGCTCGTCAATTTTCT	0.453													G|||	23	0.00459265	0.0008	0.0029	5008	,	,		18207	0.0		0.0099	False		,,,				2504	0.0102					ENST00000508244.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(8122-8124)gaC>gaT		chromosome 5 open reading frame 42		G		9,4397	15.5+/-35.6	0,9,2194	103.0	97.0	99.0		8124	-0.5	0.1	5	dbSNP_132	99	66,8534	40.8+/-97.7	0,66,4234	no	coding-synonymous	C5orf42	NM_023073.3		0,75,6428	AA,AG,GG		0.7674,0.2043,0.5767		2708/3198	37153929	75,12931	2203	4300	6503	SO:0001819	synonymous_variant	65250	773	121410	61				g.chr5:37153929G>A		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.8124C>T	chr5.hg19:g.37153929G>A		0					C5orf42_ENST00000274258.7_Silent_p.D1606D|C5orf42_ENST00000425232.2_Silent_p.D2708D	p.D2708D			0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	40	8217	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	1	0	hg19	c.8124C>T	CCDS34146.2	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-2.863996	1	0.170000	NM_023073			68	68		323	319	1		1	1		0	0	70	0		1	7.281450e-01	0	2	0	12	0	68	323
C5orf42	65250	broad.mit.edu	37	5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000508244.1	-	26	5602	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1837						integral component of membrane (GO:0016021)				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)			CCTGGAGTTGCTACTGCAACT	0.408																																						ENST00000508244.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				79						c.(5509-5511)Gca>Aca		chromosome 5 open reading frame 42							73.0	68.0	70.0					5																	37181020		2203	4300	6503	SO:0001583	missense	65250	0	0					g.chr5:37181020C>T		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.5509G>A	chr5.hg19:g.37181020C>T	ENSP00000421690:p.Ala1837Thr	0					C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T	p.A1837T			0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	26	5602	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	1	1	hg19	c.5509G>A	CCDS34146.2	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988272	0.53934	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.49	-3.59	0.04583	5.49	-3.59	0.04583	.	1.663970	0.03492	N	0.216836	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.10450	0.005;0.005	T	0.22417	-1.0217	10	0.02654	T	1	.	1.5266	0.02526	0.1462:0.3921:0.1864:0.2753	.	1837;718	E9PH94;Q9H799	.;CE042_HUMAN	T	1837;1837;718;885;718	ENSP00000421690:A1837T;ENSP00000389014:A1837T;ENSP00000274258:A718T;ENSP00000424223:A885T	ENSP00000274258:A718T	A	-	1	0	0	C5orf42	37216777	37216777	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.426000	0.07008	-0.310000	0.08766	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_023073			42	42		213	209	1		1	1		0	0	49	0		1	6.591321e-01	0	3	0	10	0	42	213
C5orf42	65250	broad.mit.edu	37	5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000508244.1	-	22	4100	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1336			R -> W (in JBTS17). {ECO:0000269|PubMed:22425360}.			integral component of membrane (GO:0016021)				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)			ATTAAAAAACCGAGAGAAAGG	0.378																																						ENST00000508244.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				79						c.(4006-4008)cGg>cAg		chromosome 5 open reading frame 42							81.0	81.0	81.0					5																	37187589		2203	4300	6503	SO:0001583	missense	65250	1	121410	24				g.chr5:37187589C>T		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.4007G>A	chr5.hg19:g.37187589C>T	ENSP00000421690:p.Arg1336Gln	0					C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q	p.R1336Q			0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	22	4100	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	1	1	hg19	c.4007G>A	CCDS34146.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.421270	0.96111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27256	1.72;1.72;1.68;1.69	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.40640	N	0.001043	T	0.40694	0.1127	N	0.24115	0.695	0.35035	D	0.759169	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49542	-0.8929	10	0.62326	D	0.03	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1336;217	E9PH94;Q9H799	.;CE042_HUMAN	Q	1336;1336;217;384;217	ENSP00000421690:R1336Q;ENSP00000389014:R1336Q;ENSP00000274258:R217Q;ENSP00000424223:R384Q	ENSP00000274258:R217Q	R	-	2	0	0	C5orf42	37223346	37223346	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.992000	0.56980	2.755000	0.94549	0.491000	0.48974	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-2.848165	1	0.170000	NM_023073			41	41		236	229	1		1	0		0	0	41	0		1	1.670731e-01	0	0	0	5	0	41	236
C5orf42	65250	broad.mit.edu	37	5	37187945	37187945	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000508244.1	-	21	3905		c.e21-1		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				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)			CTGAAGCAACCTAAAGCAGGA	0.343																																						ENST00000508244.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999785	0.990000	1.000000																										0				79						c.e21-1		chromosome 5 open reading frame 42							69.0	66.0	67.0					5																	37187945		2203	4300	6503	SO:0001630	splice_region_variant	65250	0	0					g.chr5:37187945C>T		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.3812-1G>A	chr5.hg19:g.37187945C>T		0					C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	21	3905	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	1	1	hg19		CCDS34146.2	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003492	0.54254	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	3.72	0.42706	5.49	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2017	0.54331	0.0:0.8613:0.0:0.1387	.	.	.	.	.	-1	.	.	.	-	.	.	.	C5orf42	37223702	37223702	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	4.907000	0.63300	0.810000	0.34279	0.491000	0.48974	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-14.813560	1	0.170000	NM_023073	Intron		25	25		133	130	1		1			0	0	39	0		9.999999e-01	0	0	0	0	0	0	25	133
C5orf42	65250	broad.mit.edu	37	5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000508244.1	-	18	3577	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1162						integral component of membrane (GO:0016021)				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)			GCTGGCTGGGGACAGTACAAT	0.353																																						ENST00000508244.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(3484-3486)Ccc>Acc		chromosome 5 open reading frame 42							87.0	89.0	89.0					5																	37201716		2203	4300	6503	SO:0001583	missense	65250	0	0					g.chr5:37201716G>T		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.3484C>A	chr5.hg19:g.37201716G>T	ENSP00000421690:p.Pro1162Thr	0					C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T	p.P1162T			0	0	0	1.967783	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	18	3577	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	1	1	hg19	c.3484C>A	CCDS34146.2	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675047	0.88445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.78003	-0.98;-0.98;-1.14;-1.12	5.48	4.6	0.57074	5.48	4.6	0.57074	.	0.165071	0.29185	N	0.012897	T	0.81211	0.4775	L	0.29908	0.895	0.46654	D	0.999146	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	D	0.83379	0.0011	10	0.87932	D	0	.	14.1668	0.65483	0.0724:0.0:0.9276:0.0	.	1162;43	E9PH94;Q9H799	.;CE042_HUMAN	T	1162;1162;43;210;43	ENSP00000421690:P1162T;ENSP00000389014:P1162T;ENSP00000274258:P43T;ENSP00000424223:P210T	ENSP00000274258:P43T	P	-	1	0	0	C5orf42	37237473	37237473	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.992000	0.93519	1.315000	0.45114	0.313000	0.20887	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.359513	1	0.170000	NM_023073			75	75		357	354	1		1	0		0	0	107	0		1	2.830569e-01	0	1	0	5	0	75	357
NUP155	9631	broad.mit.edu	37	5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T	rs200783324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000513532.1_Missense_Mutation_p.G716S|NUP155_ENST00000381843.2_Missense_Mutation_p.G657S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	716					atrial cardiac muscle cell action potential (GO:0086014)|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 envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGCAAACCCTTTAGTTCT	0.353																																						ENST00000231498.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				62						c.(2146-2148)Ggt>Agt		nucleoporin 155kDa							80.0	81.0	81.0					5																	37324155		2203	4300	6503	SO:0001583	missense	9631	0	0					g.chr5:37324155C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2146G>A	chr5.hg19:g.37324155C>T	ENSP00000231498:p.Gly716Ser	0					NUP155_ENST00000381843.2_Missense_Mutation_p.G657S|NUP155_ENST00000513532.1_Missense_Mutation_p.G716S	p.G716S	NM_153485.1	NP_705618.1	0	0	0	1.967783	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	20	2349	-	all_lung(31;0.000137)		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	1	1	hg19	c.2146G>A	CCDS3921.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103159	0.56183	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75260	-0.91;-0.92;-0.83	5.78	5.78	0.91487	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045015	0.85682	D	0.000000	T	0.64897	0.2640	N	0.21097	0.63	0.80722	D	1	B;B	0.25486	0.127;0.008	B;B	0.34991	0.193;0.046	T	0.59418	-0.7458	10	0.02654	T	1	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	716;716	E9PF10;O75694	.;NU155_HUMAN	S	716;657;678;716	ENSP00000231498:G716S;ENSP00000371265:G657S;ENSP00000422019:G716S	ENSP00000231498:G716S	G	-	1	0	0	NUP155	37359912	37359912	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.876000	0.75556	2.725000	0.93324	0.655000	0.94253	GGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.153498	1	0.170000	NM_153485, NM_004298			43	43		220	216	1		1	1		0	0	45	0		1	9.973080e-01	0	13	0	36	0	43	220
NUP155	9631	broad.mit.edu	37	5	37331826	37331826	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000513532.1_Silent_p.G530G|NUP155_ENST00000381843.2_Silent_p.G471G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	530					atrial cardiac muscle cell action potential (GO:0086014)|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 envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTCCATCTCCTCCCACAT	0.328																																						ENST00000231498.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1588-1590)ggA>ggG		nucleoporin 155kDa							93.0	91.0	92.0					5																	37331826		2203	4300	6503	SO:0001819	synonymous_variant	9631	0	0					g.chr5:37331826T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1590A>G	chr5.hg19:g.37331826T>C		0					NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	p.G530G	NM_153485.1	NP_705618.1	0	0	0	1.967783	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	14	1793	-	all_lung(31;0.000137)		Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	1	1	hg19	c.1590A>G	CCDS3921.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_153485, NM_004298			79	79		313	308	1		1	1		0	0	80	0		1	9.981252e-01	0	12	0	28	0	79	313
WDR70	55100	broad.mit.edu	37	5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000265107.4	+	8	877	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	241							enzyme binding (GO:0019899)			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)			TAGTAACACAGGAGACATGAT	0.348																																						ENST00000265107.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(721-723)Gga>Tga		WD repeat domain 70							231.0	215.0	221.0					5																	37479970		2203	4300	6503	SO:0001587	stop_gained	55100	0	0					g.chr5:37479970G>T	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.721G>T	chr5.hg19:g.37479970G>T	ENSP00000265107:p.Gly241*	0					WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*	p.G241*	NM_018034.2	NP_060504.1	0	0	0	1.967783	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	8	877	+	all_lung(31;0.000285)		Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	0	1	hg19	c.721G>T	CCDS34147.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.390321	0.98791	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.2527	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000265107:G241X	G	+	1	0	0	WDR70	37515727	37515727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.633000	0.89246	0.655000	0.94253	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	0	0	1		17	3	2	1		1	1	142		142	140	1	2.060000	-2.766873	1	0.170000	NM_018034			130	129		574	567	1		1	1		1	0	142	0		1	9.991923e-01	0	5	0	54	0	130	574
WDR70	55100	broad.mit.edu	37	5	37723012	37723012	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	525							enzyme binding (GO:0019899)			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)			AGCTGAGACTCTAACTCAGGA	0.403																																						ENST00000265107.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1573-1575)Cta>Tta		WD repeat domain 70							155.0	145.0	149.0					5																	37723012		2203	4300	6503	SO:0001819	synonymous_variant	55100	1	121404	42				g.chr5:37723012C>T	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.1573C>T	chr5.hg19:g.37723012C>T		0						p.L525L	NM_018034.2	NP_060504.1	0	0	0	1.967783	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	15	1729	+	all_lung(31;0.000285)		Q9H053	Silent	SNP	ENST00000265107.4	1	1	hg19	c.1573C>T	CCDS34147.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.078638	1	0.170000	NM_018034			60	60		283	279	1		1	1		0	0	66	0		1	9.980910e-01	0	11	0	36	0	60	283
EGFLAM	133584	broad.mit.edu	37	5	38407154	38407154	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000354891.3	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557																																					Colon(62;485 1295 3347 17454)	ENST00000354891.3	0.720000	0.260000	5.900000e-01	3.500000e-01	0.460000	0.479403	0.460000	0.450000																										0				85						c.(1051-1053)ctC>ctA		EGF-like, fibronectin type III and laminin G domains							111.0	105.0	107.0					5																	38407154		2203	4300	6503	SO:0001819	synonymous_variant	133584	0	0					g.chr5:38407154C>A	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.1053C>A	chr5.hg19:g.38407154C>A		0					EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Silent_p.L351L	p.L351L	NM_001205301.1	NP_001192230.1	0	0	0	1.967783	Q63HQ2	EGFLA_HUMAN		8	1399	+	all_lung(31;0.000385)		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	1	1	hg19	c.1053C>A	CCDS56363.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.374482	1	0.170000	NM_152403			14	14		341	338	0		1			0	0	78	0		9.997536e-01	0	0	0	0	0	0	14	341
EGFLAM	133584	broad.mit.edu	37	5	38409193	38409193	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38409193T>G	ENST00000354891.3	+	10	1682	c.1336T>G	c.(1336-1338)Tcc>Gcc	p.S446A	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	446	Laminin G-like 1. {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)			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)					CATCCGACGCTCCCTGCAGTT	0.433																																					Colon(62;485 1295 3347 17454)	ENST00000354891.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.996397	0.990000	1.000000																										0				85						c.(1336-1338)Tcc>Gcc		EGF-like, fibronectin type III and laminin G domains							69.0	60.0	63.0					5																	38409193		2203	4299	6502	SO:0001583	missense	133584	0	0					g.chr5:38409193T>G	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.1336T>G	chr5.hg19:g.38409193T>G	ENSP00000346964:p.Ser446Ala	0					EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.S446A	p.S446A	NM_001205301.1	NP_001192230.1	0	0	0	1.967783	Q63HQ2	EGFLA_HUMAN		10	1682	+	all_lung(31;0.000385)		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	0	1	hg19	c.1336T>G	CCDS56363.1	1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410940	0.25465	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.75367	-0.93;-0.93;-0.93	5.82	0.287	0.15714	5.82	0.287	0.15714	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.296656	0.35495	N	0.003162	T	0.54303	0.1850	L	0.28115	0.83	0.09310	N	0.999999	B;B;B	0.21147	0.052;0.04;0.035	B;B;B	0.24006	0.029;0.05;0.026	T	0.33954	-0.9848	10	0.17369	T	0.5	-23.2083	6.6251	0.22824	0.3549:0.0:0.3772:0.2679	.	212;446;446	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	A	446;446;212;212	ENSP00000346964:S446A;ENSP00000313084:S446A;ENSP00000337607:S212A	ENSP00000313084:S446A	S	+	1	0	0	EGFLAM	38444950	38444950	0.028000	0.19301	0.001000	0.08648	0.960000	0.62799	1.548000	0.36201	-0.188000	0.10499	0.533000	0.62120	TCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-17.612270	1	0.170000	NM_152403			8	8		25	25	0		1	0		0	0	10	0		9.924917e-01	0	0	0	0	1	0	8	25
EGFLAM	133584	broad.mit.edu	37	5	38427240	38427240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	ENST00000354891.3	+	14	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	647	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)			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)					GACTCAGGAGATGGTGTCCTC	0.542																																					Colon(62;485 1295 3347 17454)	ENST00000354891.3	0.580000	0.280000	5.000000e-01	3.400000e-01	0.410000	0.428830	0.410000	0.420000																										0				85						c.(1939-1941)gAt>gTt		EGF-like, fibronectin type III and laminin G domains							153.0	148.0	150.0					5																	38427240		2203	4300	6503	SO:0001583	missense	133584	0	0					g.chr5:38427240A>T	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.1940A>T	chr5.hg19:g.38427240A>T	ENSP00000346964:p.Asp647Val	0					EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D647V	p.D647V	NM_001205301.1	NP_001192230.1	0	0	0	1.967783	Q63HQ2	EGFLA_HUMAN		14	2286	+	all_lung(31;0.000385)		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	1	1	hg19	c.1940A>T	CCDS56363.1	0	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327875	0.41197	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81330	-0.6;-0.6;-0.6;-1.48	5.76	4.6	0.57074	5.76	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.157123	0.56097	D	0.000040	D	0.89329	0.6684	M	0.90369	3.11	0.80722	D	1	P;P;D	0.61697	0.95;0.833;0.99	P;P;D	0.64776	0.687;0.635;0.929	D	0.89382	0.3682	10	0.87932	D	0	-6.9413	8.3171	0.32106	0.786:0.1424:0.0716:0.0	.	413;647;647	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	647;647;413;13;413	ENSP00000346964:D647V;ENSP00000313084:D647V;ENSP00000337607:D413V;ENSP00000380385:D13V	ENSP00000313084:D647V	D	+	2	0	0	EGFLAM	38462997	38462997	1.000000	0.71417	0.008000	0.14137	0.045000	0.14185	5.738000	0.68613	1.021000	0.39600	0.533000	0.62120	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	1		2	2	2	0		0	0	150		150	151	1	2.060000	-19.999890	1	0.170000	NM_152403			27	26		722	709	0		1	0		0	0	150	0		9.999999e-01	4.198832e-03	0	0	0	3	0	27	722
LIFR	3977	broad.mit.edu	37	5	38482250	38482250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38482250C>T	ENST00000263409.4	-	20	2903	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	914					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)			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)					AAATGCTGATCGAGTTTCCAG	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4	0.470000	0.160000	3.800000e-01	2.200000e-01	0.290000	0.305187	0.290000	0.290000				Dom	yes			Dom	yes		5	5p13-p12	5p13-p12	3977	T	leukemia inhibitory factor receptor				E	E	PLAG1		salivary adenoma		0				78						c.(2740-2742)cGa>cAa		leukemia inhibitory factor receptor alpha							75.0	77.0	76.0					5																	38482250		2203	4300	6503	SO:0001583	missense	3977	1	121404	34				g.chr5:38482250C>T	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.2741G>A	chr5.hg19:g.38482250C>T	ENSP00000263409:p.Arg914Gln	0					LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	p.R914Q	NM_002310.5	NP_002301.1	0	0	0	1.967783	P42702	LIFR_HUMAN		20	2903	-	all_lung(31;0.00021)		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	0	1	hg19	c.2741G>A	CCDS3927.1	0	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908359	0.17833	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54866	0.55;0.55	6.06	3.18	0.36537	6.06	3.18	0.36537	.	0.508601	0.18595	N	0.136622	T	0.22589	0.0545	N	0.13043	0.29	0.09310	N	1	B	0.31599	0.33	B	0.16722	0.016	T	0.06232	-1.0838	10	0.12103	T	0.63	-4.1353	0.7763	0.01033	0.1789:0.3905:0.174:0.2566	.	914	P42702	LIFR_HUMAN	Q	914	ENSP00000263409:R914Q;ENSP00000398368:R914Q	ENSP00000263409:R914Q	R	-	2	0	0	LIFR	38518007	38518007	0.001000	0.12720	0.001000	0.08648	0.427000	0.31564	0.036000	0.13819	0.795000	0.33922	0.650000	0.86243	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	0	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.935610	1	0.170000	NM_002310			13	11		511	510	0		1	0		0	0	96	0		9.995240e-01	1.006090e-01	0	0	0	20	0	13	511
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					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)			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)					TTACCATTCTCGTTTCCGATA	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998091	0.990000	1.000000				Dom	yes			Dom	yes		5	5p13-p12	5p13-p12	3977	T	leukemia inhibitory factor receptor				E	E	PLAG1		salivary adenoma		0				78						c.(2584-2586)cGa>cAa		leukemia inhibitory factor receptor alpha							70.0	66.0	67.0					5																	38484883		2203	4300	6503	SO:0001583	missense	3977	0	0					g.chr5:38484883C>T	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.2585G>A	chr5.hg19:g.38484883C>T	ENSP00000263409:p.Arg862Gln	0					LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	p.R862Q	NM_002310.5	NP_002301.1	0	0	0	1.967783	P42702	LIFR_HUMAN		18	2747	-	all_lung(31;0.00021)		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	1	1	hg19	c.2585G>A	CCDS3927.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384345	0.82792	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.78	4.91	0.64330	5.78	4.91	0.64330	.	0.110075	0.64402	D	0.000012	T	0.74390	0.3710	M	0.69823	2.125	0.42200	D	0.991767	D	0.89917	1.0	D	0.80764	0.994	T	0.75196	-0.3403	10	0.38643	T	0.18	-13.1154	16.2544	0.82505	0.1338:0.8662:0.0:0.0	.	862	P42702	LIFR_HUMAN	Q	862	ENSP00000263409:R862Q;ENSP00000398368:R862Q	ENSP00000263409:R862Q	R	-	2	0	0	LIFR	38520640	38520640	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	5.359000	0.66074	1.428000	0.47296	0.563000	0.77884	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.176451	1	0.170000	NM_002310			18	18		105	103	1		1	1		0	0	33	0		9.999871e-01	9.432730e-01	0	9	0	22	0	18	105
LIFR	3977	broad.mit.edu	37	5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	rs143621762		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	650	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			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)					ATGTTGGGGTCGTAATGCCAG	0.438			T	PLAG1	salivary adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0				Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5p13-p12	5p13-p12	3977	T	leukemia inhibitory factor receptor				E	E	PLAG1		salivary adenoma		0				78						c.(1948-1950)Gac>Aac		leukemia inhibitory factor receptor alpha							167.0	146.0	153.0					5																	38493825		2203	4300	6503	SO:0001583	missense	3977	3	121412	36				g.chr5:38493825C>T	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.1948G>A	chr5.hg19:g.38493825C>T	ENSP00000263409:p.Asp650Asn	0					LIFR_ENST00000453190.2_Missense_Mutation_p.D650N|LIFR_ENST00000503088.1_5'UTR	p.D650N	NM_002310.5	NP_002301.1	0	0	0	1.967783	P42702	LIFR_HUMAN		14	2110	-	all_lung(31;0.00021)		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	1	1	hg19	c.1948G>A	CCDS3927.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.98	1.799137	0.31777	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.52983	0.64;0.64	5.68	1.86	0.25419	5.68	1.86	0.25419	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	0.469433	0.26203	N	0.025724	T	0.28466	0.0704	N	0.25426	0.745	0.09310	N	0.999994	B	0.17268	0.021	B	0.06405	0.002	T	0.11743	-1.0575	10	0.32370	T	0.25	-12.488	5.6181	0.17442	0.1376:0.5722:0.0:0.2902	.	650	P42702	LIFR_HUMAN	N	650	ENSP00000263409:D650N;ENSP00000398368:D650N	ENSP00000263409:D650N	D	-	1	0	0	LIFR	38529582	38529582	0.247000	0.23920	0.254000	0.24359	0.947000	0.59692	0.542000	0.23222	0.410000	0.25675	0.591000	0.81541	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.414955	1	0.170000	NM_002310			107	107		434	427	1		1	1		0	0	93	0		1	9.371546e-01	0	2	0	19	0	107	434
LIFR	3977	broad.mit.edu	37	5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	591	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			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)					CTGCTTTGTGCTGAGGATCAG	0.408			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5p13-p12	5p13-p12	3977	T	leukemia inhibitory factor receptor				E	E	PLAG1		salivary adenoma		0				78						c.(1771-1773)caG>caT		leukemia inhibitory factor receptor alpha							224.0	192.0	203.0					5																	38496596		2203	4300	6503	SO:0001583	missense	3977	0	0					g.chr5:38496596C>A	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.1773G>T	chr5.hg19:g.38496596C>A	ENSP00000263409:p.Gln591His	0					LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H|LIFR_ENST00000503088.1_5'UTR	p.Q591H	NM_002310.5	NP_002301.1	0	0	0	1.967783	P42702	LIFR_HUMAN		13	1935	-	all_lung(31;0.00021)		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	1	1	hg19	c.1773G>T	CCDS3927.1	1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006685	0.19199	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54279	0.58;0.58	5.73	-8.16	0.01061	5.73	-8.16	0.01061	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.758030	0.13202	N	0.405909	T	0.23926	0.0579	N	0.12569	0.235	0.21416	N	0.999698	B	0.12630	0.006	B	0.09377	0.004	T	0.14783	-1.0460	10	0.28530	T	0.3	-18.9492	8.1536	0.31156	0.0973:0.5493:0.0992:0.2542	.	591	P42702	LIFR_HUMAN	H	591	ENSP00000263409:Q591H;ENSP00000398368:Q591H	ENSP00000263409:Q591H	Q	-	3	2	2	LIFR	38532353	38532353	0.010000	0.17322	0.953000	0.39169	0.524000	0.34500	-1.826000	0.01705	-0.804000	0.04410	-1.008000	0.02478	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_002310			102	98		378	370	1		1	1		0	0	90	0		1	7.584332e-01	0	2	0	10	0	102	378
LIFR	3977	broad.mit.edu	37	5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	19					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)			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)					AGTCCTCATTCTTTTATTGTC	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4	1.000000	0.620000	1	7.400000e-01	0.870000	0.868057	0.870000	1.000000				Dom	yes			Dom	yes		5	5p13-p12	5p13-p12	3977	T	leukemia inhibitory factor receptor				E	E	PLAG1		salivary adenoma		0				78						c.(55-57)aGa>aAa		leukemia inhibitory factor receptor alpha							135.0	131.0	133.0					5																	38530694		2203	4300	6503	SO:0001583	missense	3977	0	0					g.chr5:38530694C>T	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.56G>A	chr5.hg19:g.38530694C>T	ENSP00000263409:p.Arg19Lys	0					LIFR_ENST00000453190.2_Missense_Mutation_p.R19K|LIFR_ENST00000503088.1_5'UTR	p.R19K	NM_002310.5	NP_002301.1	0	0	0	1.967783	P42702	LIFR_HUMAN		2	218	-	all_lung(31;0.00021)		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	1	1	hg19	c.56G>A	CCDS3927.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283089	0.59867	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.55588	0.51;0.51;0.81	5.5	1.59	0.23543	5.5	1.59	0.23543	.	0.827850	0.10502	N	0.667197	T	0.43366	0.1244	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45011	-0.9290	10	0.59425	D	0.04	-12.1776	1.854	0.03174	0.1684:0.4932:0.1629:0.1755	.	19	P42702	LIFR_HUMAN	K	19	ENSP00000263409:R19K;ENSP00000398368:R19K;ENSP00000426685:R19K	ENSP00000263409:R19K	R	-	2	0	0	LIFR	38566451	38566451	0.004000	0.15560	0.001000	0.08648	0.900000	0.52787	0.721000	0.25911	0.337000	0.23665	0.650000	0.86243	AGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.142702	1	0.170000	NM_002310			35	35		428	419	0		1	0		0	0	76	0		1	9.816328e-02	0	1	0	6	0	35	428
OSMR	9180	broad.mit.edu	37	5	38923316	38923316	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	610	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGGATTGCTTGTTTATTAG	0.343																																						ENST00000274276.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1828-1830)gcT>gcA		oncostatin M receptor							79.0	82.0	81.0					5																	38923316		2203	4300	6503	SO:0001819	synonymous_variant	9180	0	0					g.chr5:38923316T>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1830T>A	chr5.hg19:g.38923316T>A		0						p.A610A	NM_003999.2	NP_003990.1	0	0	0	1.967783	Q99650	OSMR_HUMAN		13	2232	+	all_lung(31;0.000365)		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	1	1	hg19	c.1830T>A	CCDS3928.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_003999			64	62		267	258	1		1	1		0	0	52	0		1	1	0	32	0	83	0	64	267
OSMR	9180	broad.mit.edu	37	5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T	rs387906822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L (in PLCA1). {ECO:0000269|PubMed:19690585}.		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTGACAACCCGGAAGAAAAG	0.358																																						ENST00000274276.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2080-2082)cCg>cTg		oncostatin M receptor							113.0	106.0	109.0					5																	38925342		2203	4300	6503	SO:0001583	missense	9180	0	0					g.chr5:38925342C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2081C>T	chr5.hg19:g.38925342C>T	ENSP00000274276:p.Pro694Leu	0						p.P694L	NM_003999.2	NP_003990.1	0	0	0	1.967783	Q99650	OSMR_HUMAN		15	2483	+	all_lung(31;0.000365)		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	1	1	hg19	c.2081C>T	CCDS3928.1	1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101350	0.06967	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.76	5.76	0.90799	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.532999	0.21392	N	0.075284	T	0.61160	0.2325	L	0.56769	1.78	0.27464	N	0.953066	D	0.89917	1.0	P	0.62298	0.9	T	0.55023	-0.8205	10	0.18276	T	0.48	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	694	Q99650	OSMR_HUMAN	L	694	ENSP00000274276:P694L	ENSP00000274276:P694L	P	+	2	0	0	OSMR	38961099	38961099	0.305000	0.24481	0.071000	0.20095	0.022000	0.10575	3.948000	0.56660	2.732000	0.93576	0.655000	0.94253	CCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-2.580916	1	0.170000	NM_003999			104	101		419	414	1		1	1		0	0	103	0		1	1	0	43	0	103	0	104	419
OSMR	9180	broad.mit.edu	37	5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	916					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAAGTTTGAATTATGTGTCCC	0.443																																						ENST00000274276.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2746-2748)aaT>aaG		oncostatin M receptor							78.0	84.0	82.0					5																	38933354		2203	4300	6503	SO:0001583	missense	9180	0	0					g.chr5:38933354T>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2748T>G	chr5.hg19:g.38933354T>G	ENSP00000274276:p.Asn916Lys	0						p.N916K	NM_003999.2	NP_003990.1	0	0	0	1.967783	Q99650	OSMR_HUMAN		18	3150	+	all_lung(31;0.000365)		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	1	1	hg19	c.2748T>G	CCDS3928.1	1	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566823	0.13560	.	.	ENSG00000145623	ENST00000274276	T	0.45668	0.89	5.85	4.69	0.59074	5.85	4.69	0.59074	.	1.853720	0.02208	N	0.062901	T	0.41259	0.1151	L	0.56769	1.78	0.29781	N	0.833977	P	0.42456	0.78	B	0.40636	0.335	T	0.42732	-0.9434	10	0.02654	T	1	.	8.6037	0.33760	0.0:0.0864:0.0:0.9136	.	916	Q99650	OSMR_HUMAN	K	916	ENSP00000274276:N916K	ENSP00000274276:N916K	N	+	3	2	2	OSMR	38969111	38969111	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.483000	0.22292	1.034000	0.39945	0.533000	0.62120	AAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_003999			100	97		448	435	1		1	1		0	0	95	0		1	1	0	32	0	150	0	100	448
RICTOR	253260	broad.mit.edu	37	5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											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)					TATGAACCTCCGACACGGAAG	0.343																																						ENST00000357387.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(5008-5010)cGg>cAg		RPTOR independent companion of MTOR, complex 2							86.0	88.0	87.0					5																	38942978		2203	4300	6503	SO:0001583	missense	253260	0	0					g.chr5:38942978C>T		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.5009G>A	chr5.hg19:g.38942978C>T	ENSP00000349959:p.Arg1670Gln	0					RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	p.R1670Q	NM_152756.3	NP_689969.2	0	0	0	1.967783				37	5039	-	all_lung(31;0.000396)			Missense_Mutation	SNP	ENST00000357387.3	1	1	hg19	c.5009G>A	CCDS34148.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.952747	0.97139	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75477	-0.94;-0.87	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.86546	0.1831	10	0.87932	D	0	-9.7854	20.5141	0.99211	0.0:1.0:0.0:0.0	.	1670;1694	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1670;1694	ENSP00000349959:R1670Q;ENSP00000296782:R1694Q	ENSP00000296782:R1694Q	R	-	2	0	0	RICTOR	38978735	38978735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.850000	0.98022	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.512447	1	0.170000	NM_152756			44	44		157	153	1		1	1		0	0	41	0		1	9.862884e-01	0	9	0	18	0	44	157
RICTOR	253260	broad.mit.edu	37	5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											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)					CTTAAGGCTTTCATGAACCTA	0.328																																						ENST00000357387.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993619	0.990000	1.000000																										0				75						c.(4144-4146)Aaa>Caa		RPTOR independent companion of MTOR, complex 2							53.0	50.0	51.0					5																	38947536		2203	4299	6502	SO:0001583	missense	253260	0	0					g.chr5:38947536T>G		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.4144A>C	chr5.hg19:g.38947536T>G	ENSP00000349959:p.Lys1382Gln	0					RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	p.K1382Q	NM_152756.3	NP_689969.2	0	0	0	1.967783				32	4174	-	all_lung(31;0.000396)			Missense_Mutation	SNP	ENST00000357387.3	1	1	hg19	c.4144A>C	CCDS34148.1	1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355906	0.61293	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55052	0.82;0.54	5.68	4.49	0.54785	5.68	4.49	0.54785	.	0.141787	0.64402	D	0.000006	T	0.53674	0.1811	L	0.56769	1.78	0.51012	D	0.9999	P;P	0.47762	0.835;0.9	P;P	0.44990	0.466;0.466	T	0.57917	-0.7728	10	0.87932	D	0	-13.4672	12.8199	0.57688	0.0:0.0:0.1365:0.8635	.	1382;1406	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1382;1406	ENSP00000349959:K1382Q;ENSP00000296782:K1406Q	ENSP00000296782:K1406Q	K	-	1	0	0	RICTOR	38983293	38983293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.814000	0.69208	0.940000	0.37473	0.528000	0.53228	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_152756			26	26		201	198	1		1	1		0	0	39	0		9.999999e-01	8.559641e-01	0	9	0	20	0	26	201
RICTOR	253260	broad.mit.edu	37	5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											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)					AAGTTACAATCTGCTAGACTT	0.418																																						ENST00000357387.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				75						c.(3946-3948)Gat>Aat		RPTOR independent companion of MTOR, complex 2							120.0	115.0	116.0					5																	38950004		2203	4300	6503	SO:0001583	missense	253260	0	0					g.chr5:38950004C>T		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.3946G>A	chr5.hg19:g.38950004C>T	ENSP00000349959:p.Asp1316Asn	0					RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	p.D1316N	NM_152756.3	NP_689969.2	0	0	0	1.967783				31	3976	-	all_lung(31;0.000396)			Missense_Mutation	SNP	ENST00000357387.3	1	1	hg19	c.3946G>A	CCDS34148.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616596	0.87359	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54866	0.65;0.55	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.71527	-0.4566	10	0.87932	D	0	-20.5176	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1316;1316	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1316	ENSP00000349959:D1316N;ENSP00000296782:D1316N	ENSP00000296782:D1316N	D	-	1	0	0	RICTOR	38985761	38985761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.146281	1	0.170000	NM_152756			58	58		325	319	1		1	1		0	0	108	0		1	8.645384e-01	0	2	0	20	0	58	325
RICTOR	253260	broad.mit.edu	37	5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											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)					TGTAGTGTCTGTATTGAAACT	0.418																																						ENST00000357387.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(3664-3666)aCa>aTa		RPTOR independent companion of MTOR, complex 2							238.0	224.0	229.0					5																	38950285		2203	4298	6501	SO:0001583	missense	253260	0	0					g.chr5:38950285G>A		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.3665C>T	chr5.hg19:g.38950285G>A	ENSP00000349959:p.Thr1222Ile	0					RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	p.T1222I	NM_152756.3	NP_689969.2	0	0	0	1.967783				31	3695	-	all_lung(31;0.000396)			Missense_Mutation	SNP	ENST00000357387.3	1	1	hg19	c.3665C>T	CCDS34148.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034996	0.75617	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	0.41;-0.21	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82659	-0.0348	10	0.87932	D	0	-17.4192	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1222;1222	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1222	ENSP00000349959:T1222I;ENSP00000296782:T1222I	ENSP00000296782:T1222I	T	-	2	0	0	RICTOR	38986042	38986042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.937000	0.99478	0.650000	0.86243	ACA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1		2	2	2	0		0	0	216		216	216	1	2.060000	-20.000000	1	0.170000	NM_152756			236	234		957	941	1		1	1		0	0	216	0		1	9.953339e-01	0	10	0	25	0	236	957
RICTOR	253260	broad.mit.edu	37	5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A	rs557179494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											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)					AGTATATCTGGAATCACGTTT	0.353																																						ENST00000357387.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.998065	0.990000	1.000000																										0				75						c.(2848-2850)Cca>Tca		RPTOR independent companion of MTOR, complex 2							177.0	177.0	177.0					5																	38953136		2203	4300	6503	SO:0001583	missense	253260	0	0					g.chr5:38953136G>A		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.2848C>T	chr5.hg19:g.38953136G>A	ENSP00000349959:p.Pro950Ser	0					RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S|RICTOR_ENST00000503698.1_5'Flank	p.P950S	NM_152756.3	NP_689969.2	0	0	0	1.967783				29	2878	-	all_lung(31;0.000396)			Missense_Mutation	SNP	ENST00000357387.3	1	1	hg19	c.2848C>T	CCDS34148.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68025	-0.3;-0.3	5.53	5.53	0.82687	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.741;1.0	P;D	0.87578	0.554;0.998	T	0.79773	-0.1662	10	0.87932	D	0	-14.0935	19.8174	0.96576	0.0:0.0:1.0:0.0	.	950;950	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	950	ENSP00000349959:P950S;ENSP00000296782:P950S	ENSP00000296782:P950S	P	-	1	0	0	RICTOR	38988893	38988893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.757000	0.94681	0.591000	0.81541	CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-3.318794	1	0.170000	NM_152756			47	46		371	365	1		1	1		0	0	100	0		1	9.535043e-01	0	6	0	36	0	47	371
C9	735	broad.mit.edu	37	5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478																																						ENST00000263408.4	1.000000	0.690000	1	8.000000e-01	0.920000	0.910395	0.920000	1.000000																										0				32						c.(394-396)gaT>gaG		complement component 9							125.0	122.0	123.0					5																	39341328		2203	4300	6503	SO:0001583	missense	735	0	0					g.chr5:39341328A>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.396T>G	chr5.hg19:g.39341328A>C	ENSP00000263408:p.Asp132Glu	0					C9_ENST00000509186.1_5'UTR	p.D132E	NM_001737.3	NP_001728.1	0	0	0	1.967783	P02748	CO9_HUMAN	Epithelial(62;0.158)	4	491	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)		Missense_Mutation	SNP	ENST00000263408.4	1	1	hg19	c.396T>G	CCDS3929.1	1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382830	0.42207	.	.	ENSG00000113600	ENST00000263408	D	0.94966	-3.57	5.52	-2.54	0.06307	5.52	-2.54	0.06307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.403256	0.29172	N	0.012922	D	0.85026	0.5603	N	0.04162	-0.26	0.09310	N	1	D	0.53619	0.961	P	0.50970	0.655	T	0.82456	-0.0448	10	0.15952	T	0.53	-22.6294	5.9416	0.19196	0.4123:0.2496:0.3381:0.0	.	132	P02748	CO9_HUMAN	E	132	ENSP00000263408:D132E	ENSP00000263408:D132E	D	-	3	2	2	C9	39377085	39377085	0.028000	0.19301	0.111000	0.21465	0.828000	0.46876	0.049000	0.14099	-0.180000	0.10637	0.460000	0.39030	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-20.000000	1	0.170000				45	43		515	497	0		1	0		0	0	103	0		1	6.808763e-03	0	0	0	2	0	45	515
DAB2	1601	broad.mit.edu	37	5	39381710	39381710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000545653.1_Silent_p.A429A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	450					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)			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)			GCAAGTCATTGGCTGAAGACT	0.522																																						ENST00000320816.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1348-1350)gcC>gcT		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							103.0	99.0	100.0					5																	39381710		2203	4300	6503	SO:0001819	synonymous_variant	1601	0	0					g.chr5:39381710G>A	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.1350C>T	chr5.hg19:g.39381710G>A		0					DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000339788.6_Silent_p.A232A	p.A450A	NM_001343.3	NP_001334.2	0	0	0	1.967783	P98082	DAB2_HUMAN	Epithelial(62;0.137)	11	1817	-	all_lung(31;0.000197)		A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	1	1	hg19	c.1350C>T	CCDS34149.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.443744	1	0.170000	NM_001343			66	65		266	257	1		1	1		0	0	86	0		1	1	0	8	0	198	0	66	266
DAB2	1601	broad.mit.edu	37	5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	364	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)			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)			TTGAAAAGGGCCATGGGCCTG	0.502																																						ENST00000320816.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				47						c.(1090-1092)tgG>tgA		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							77.0	81.0	80.0					5																	39382969		2203	4300	6503	SO:0001587	stop_gained	1601	0	0					g.chr5:39382969C>T	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.1092G>A	chr5.hg19:g.39382969C>T	ENSP00000313391:p.Trp364*	0					DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000339788.6_Intron	p.W364*	NM_001343.3	NP_001334.2	0	0	0	1.967783	P98082	DAB2_HUMAN	Epithelial(62;0.137)	10	1559	-	all_lung(31;0.000197)		A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	0	1	hg19	c.1092G>A	CCDS34149.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.162273	0.97338	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.075986	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4116	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	364;343;343	.	ENSP00000313391:W364X	W	-	3	0	0	DAB2	39418726	39418726	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	TGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001343			50	49		261	256	1		1	1		0	0	66	0		1	1	0	2	0	212	0	50	261
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324	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.S324*(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)			CGAGCTACTCGAATTCTCTTT	0.468																																						ENST00000320816.6	0.700000	0.310000	6.000000e-01	3.900000e-01	0.490000	0.503291	0.490000	0.490000																										1	Substitution - Nonsense(1)	p.S324*(1)	large_intestine(1)	47						c.(970-972)tCg>tTg		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							102.0	106.0	105.0					5																	39383090		2203	4300	6503	SO:0001583	missense	1601	1	121412	29				g.chr5:39383090G>A	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.971C>T	chr5.hg19:g.39383090G>A	ENSP00000313391:p.Ser324Leu	0					DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000339788.6_Intron	p.S324L	NM_001343.3	NP_001334.2	0	0	0	1.967783	P98082	DAB2_HUMAN	Epithelial(62;0.137)	10	1438	-	all_lung(31;0.000197)		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	1	1	hg19	c.971C>T	CCDS34149.1	0	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	0	DAB2	39418847	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	0	0	1		2	2	2	0		0	0	126		126	124	1	2.060000	-4.056383	1	0.170000	NM_001343			23	22		522	516	0		1	0		0	0	126	0		9.999993e-01	9.987195e-01	0	0	0	238	0	23	522
PTGER4	5734	broad.mit.edu	37	5	40681899	40681899	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	268					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCGCCGAGATCCAGATGGTCA	0.687																																						ENST00000302472.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(802-804)atC>atA		prostaglandin E receptor 4 (subtype EP4)	Dinoprostone(DB00917)|Misoprostol(DB00929)						26.0	29.0	28.0					5																	40681899		2122	4045	6167	SO:0001819	synonymous_variant	5734	0	0					g.chr5:40681899C>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.804C>A	chr5.hg19:g.40681899C>A		0						p.I268I	NM_000958.2	NP_000949.1	0	0	0	1.967783	P35408	PE2R4_HUMAN		2	1828	+			Q3MJ87	Silent	SNP	ENST00000302472.3	1	1	hg19	c.804C>A	CCDS3930.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_000958			56	56		239	238	1		1	1		0	0	44	0		1	9.962007e-01	0	8	0	31	0	56	239
TTC33	23548	broad.mit.edu	37	5	40716255	40716255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40716255C>A	ENST00000337702.4	-	5	933	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	261										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTTCATCGGGCTTTGATAAAA	0.393																																						ENST00000337702.4	0.750000	0.140000	5.600000e-01	2.400000e-01	0.380000	0.409654	0.380000	0.340000																										0				11						c.(781-783)Gcc>Tcc		tetratricopeptide repeat domain 33							68.0	57.0	61.0					5																	40716255		2203	4300	6503	SO:0001583	missense	23548	0	0					g.chr5:40716255C>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.781G>T	chr5.hg19:g.40716255C>A	ENSP00000338533:p.Ala261Ser	0					TTC33_ENST00000503936.2_5'UTR	p.A261S	NM_012382.2	NP_036514.1	0	0	0	1.967783	Q6PID6	TTC33_HUMAN		5	933	-			B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	0	1	hg19	c.781G>T	CCDS3931.1	0	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808046	0.90707	.	.	ENSG00000113638	ENST00000337702	T	0.41065	1.01	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.095158	0.64402	D	0.000001	T	0.62998	0.2474	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.65865	-0.6064	10	0.87932	D	0	-12.367	19.0383	0.92987	0.0:1.0:0.0:0.0	.	261	Q6PID6	TTC33_HUMAN	S	261	ENSP00000338533:A261S	ENSP00000338533:A261S	A	-	1	0	0	TTC33	40752012	40752012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.486000	0.83907	0.650000	0.86243	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-7.436516	1	0.170000	NM_012382			5	5		157	155	0		1	0		0	0	34	0		9.364811e-01	6.416589e-01	0	1	0	64	0	5	157
PRKAA1	5562	broad.mit.edu	37	5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000397128.2	-	5	583	c.575C>T	c.(574-576)gCa>gTa	p.A192V	PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368																																						ENST00000397128.2	0.640000	0.260000	5.400000e-01	3.400000e-01	0.430000	0.446075	0.430000	0.420000																										0				1						c.(574-576)gCa>gTa		protein kinase, AMP-activated, alpha 1 catalytic subunit	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						161.0	154.0	157.0					5																	40769539		1855	4116	5971	SO:0001583	missense	5562	0	0					g.chr5:40769539G>A		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.575C>T	chr5.hg19:g.40769539G>A	ENSP00000380317:p.Ala192Val	0					PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	p.A192V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	0	0	0	1.967783	Q13131	AAPK1_HUMAN		5	583	-			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	1	1	hg19	c.575C>T	CCDS3932.2	0	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785121	0.90282	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.64144	0.922;0.919	D	0.89003	0.3423	10	0.87932	D	0	-19.9302	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;207	Q13131;Q13131-2	AAPK1_HUMAN;.	V	192;207;183	ENSP00000380317:A192V;ENSP00000346148:A207V;ENSP00000296800:A183V	ENSP00000296800:A183V	A	-	2	0	0	AC008810.1	40805296	40805296	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	1	0	1		2	2	2	0		0	0	118		118	114	1	2.060000	-3.420450	1	0.170000	NM_006251			18	17		468	454	0		1	1		0	0	118	0		9.999769e-01	9.962242e-01	0	6	0	228	0	18	468
C7	730	broad.mit.edu	37	5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	290	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)							Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428																																						ENST00000313164.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(868-870)aGt>aAt		complement component 7							91.0	87.0	88.0					5																	40947834		1850	4091	5941	SO:0001583	missense	730	0	0					g.chr5:40947834G>A	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.869G>A	chr5.hg19:g.40947834G>A	ENSP00000322061:p.Ser290Asn	0						p.S290N	NM_000587.2	NP_000578.2	0	0	0	1.967783	P10643	CO7_HUMAN		8	1228	+		Ovarian(839;0.0112)	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	1	1	hg19	c.869G>A	CCDS47201.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096169	0.56075	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83755	-1.76	5.9	5.04	0.67666	5.9	5.04	0.67666	Membrane attack complex component/perforin (MACPF) domain (3);	0.264931	0.45126	D	0.000385	T	0.79167	0.4400	L	0.58101	1.795	0.39187	D	0.962896	B	0.20550	0.046	B	0.22601	0.04	T	0.75803	-0.3189	10	0.37606	T	0.19	-12.6631	10.4816	0.44698	0.1479:0.0:0.8521:0.0	.	290	P10643	CO7_HUMAN	N	290	ENSP00000322061:S290N	ENSP00000322061:S290N	S	+	2	0	0	C7	40983591	40983591	0.006000	0.16342	1.000000	0.80357	0.886000	0.51366	0.308000	0.19314	1.502000	0.48669	-0.142000	0.14014	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000				51	49		207	202	1		1	0		0	0	55	0		1	1	0	0	0	115	0	51	207
C6	729	broad.mit.edu	37	5	41149377	41149377	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	863	C5b-binding domain.|Factor I module (FIM) 2.				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)				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)				AGGTGTCATAGCCACAGGATT	0.428																																						ENST00000263413.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(2587-2589)ggC>ggA		complement component 6							241.0	231.0	235.0					5																	41149377		2203	4300	6503	SO:0001819	synonymous_variant	729	0	0					g.chr5:41149377G>T	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.2589C>A	chr5.hg19:g.41149377G>T		0					C6_ENST00000337836.5_Silent_p.G863G	p.G863G	NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		17	2853	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Silent	SNP	ENST00000263413.3	1	1	hg19	c.2589C>A	CCDS3936.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	0		2	2	2	0		0	0	219		219	218	1	2.060000	-20.000000	1	0.170000				203	198		1055	1039	1		1	0		0	0	219	0		1	9.984488e-01	0	0	0	50	0	203	1055
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Factor I module (FIM) 1.				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)				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)				TAACTGGCGGCCGTCTTGGCA	0.418																																						ENST00000263413.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(2518-2520)gGc>gAc		complement component 6							140.0	137.0	138.0					5																	41149447		2203	4300	6503	SO:0001583	missense	729	0	0					g.chr5:41149447C>T	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.2519G>A	chr5.hg19:g.41149447C>T	ENSP00000263413:p.Gly840Asp	0					C6_ENST00000337836.5_Missense_Mutation_p.G840D	p.G840D	NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		17	2783	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Missense_Mutation	SNP	ENST00000263413.3	1	1	hg19	c.2519G>A	CCDS3936.1	1	.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336634	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60299	0.2;0.2	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.32041	0.0816	N	0.14661	0.345	0.24034	N	0.996103	B	0.16396	0.017	B	0.12837	0.008	T	0.31943	-0.9925	10	0.07030	T	0.85	-20.1278	5.7292	0.18030	0.0:0.6574:0.1663:0.1763	.	840	P13671	CO6_HUMAN	D	840	ENSP00000338861:G840D;ENSP00000263413:G840D	ENSP00000263413:G840D	G	-	2	0	0	C6	41185204	41185204	0.006000	0.16342	0.839000	0.33178	0.196000	0.23810	1.784000	0.38674	2.768000	0.95171	0.655000	0.94253	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	0		2	2	2	0		0	0	170		170	166	1	2.060000	-20.000000	1	0.170000				154	152		798	782	1		1	0		0	0	170	0		1	9.984346e-01	0	0	0	50	0	154	798
C6	729	broad.mit.edu	37	5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000337836.5_Missense_Mutation_p.D558Y|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	558					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)				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)				GATTTATAATCTGGAGACTGT	0.418																																						ENST00000263413.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				96						c.(1672-1674)Gat>Tat		complement component 6							91.0	91.0	91.0					5																	41160256		2203	4300	6503	SO:0001583	missense	729	0	0					g.chr5:41160256C>A	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.1672G>T	chr5.hg19:g.41160256C>A	ENSP00000263413:p.Asp558Tyr	0					C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Missense_Mutation_p.D558Y	p.D558Y	NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		11	1936	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Missense_Mutation	SNP	ENST00000263413.3	1	1	hg19	c.1672G>T	CCDS3936.1	1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751077	0.69533	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62639	0.01;0.01	6.06	6.06	0.98353	6.06	6.06	0.98353	.	1.329030	0.04512	N	0.382988	D	0.83566	0.5282	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71902	-0.4452	10	0.72032	D	0.01	-18.6999	20.6208	0.99490	0.0:1.0:0.0:0.0	.	558	P13671	CO6_HUMAN	Y	558	ENSP00000338861:D558Y;ENSP00000263413:D558Y	ENSP00000263413:D558Y	D	-	1	0	0	C6	41196013	41196013	1.000000	0.71417	0.489000	0.27452	0.316000	0.28119	7.459000	0.80802	2.882000	0.98803	0.655000	0.94253	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				83	83		306	300	1		1	0		0	0	72	0		1	9.999128e-01	0	1	0	52	0	83	306
C6	729	broad.mit.edu	37	5	41176658	41176658	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41176658T>C	ENST00000263413.3	-	8	1351	c.1087A>G	c.(1087-1089)Act>Gct	p.T363A	C6_ENST00000337836.5_Missense_Mutation_p.T363A|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	363	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)				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)				AAGTAATGAGTCCCAAAGTCA	0.433																																						ENST00000263413.3	0.430000	0.120000	3.400000e-01	1.700000e-01	0.240000	0.264222	0.240000	0.240000																										0				96						c.(1087-1089)Act>Gct		complement component 6							125.0	118.0	121.0					5																	41176658		2203	4300	6503	SO:0001583	missense	729	0	0					g.chr5:41176658T>C	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.1087A>G	chr5.hg19:g.41176658T>C	ENSP00000263413:p.Thr363Ala	0					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.T363A	p.T363A	NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		8	1351	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Missense_Mutation	SNP	ENST00000263413.3	0	1	hg19	c.1087A>G	CCDS3936.1	0	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714979	0.89112	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	5.55	5.55	0.83447	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99705	1.1005	10	0.87932	D	0	-19.9222	15.8689	0.79091	0.0:0.0:0.0:1.0	.	363	P13671	CO6_HUMAN	A	363	ENSP00000338861:T363A;ENSP00000263413:T363A	ENSP00000263413:T363A	T	-	1	0	0	C6	41212415	41212415	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.224000	0.78042	2.333000	0.79357	0.482000	0.46254	ACT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	0	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-3.153781	1	0.170000				9	9		422	415	0		1	0		0	0	72	0		9.938188e-01	1.551117e-01	0	0	0	30	0	9	422
C6	729	broad.mit.edu	37	5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000337836.5_Missense_Mutation_p.V239G|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	239	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)				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)				CTCAAAGCCGACATTTTCCAG	0.423																																						ENST00000263413.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				96						c.(715-717)gTc>gGc		complement component 6							128.0	117.0	121.0					5																	41186182		2203	4300	6503	SO:0001583	missense	729	0	0					g.chr5:41186182A>C	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.716T>G	chr5.hg19:g.41186182A>C	ENSP00000263413:p.Val239Gly	0					C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.V239G	p.V239G	NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		6	980	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Missense_Mutation	SNP	ENST00000263413.3	1	1	hg19	c.716T>G	CCDS3936.1	1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873182	0.72180	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61392	0.11;0.11	5.99	5.99	0.97316	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.218031	0.46758	D	0.000268	T	0.64951	0.2645	M	0.72479	2.2	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.69049	-0.5248	10	0.54805	T	0.06	-16.1571	16.4943	0.84223	1.0:0.0:0.0:0.0	.	239	P13671	CO6_HUMAN	G	239	ENSP00000338861:V239G;ENSP00000263413:V239G	ENSP00000263413:V239G	V	-	2	0	0	C6	41221939	41221939	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	7.357000	0.79456	2.291000	0.77112	0.533000	0.62120	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-19.986390	1	0.170000				37	37		171	171	1		1	0		0	0	43	0		1	9.781636e-01	0	0	0	31	0	37	171
C6	729	broad.mit.edu	37	5	41203349	41203349	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41203349G>T	ENST00000263413.3	-	0	248				C6_ENST00000337836.5_De_novo_Start_OutOfFrame	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6						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)				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)				AGAGCCTCCAGGCCCTAAAAT	0.423																																						ENST00000263413.3	1.000000	0.770000	1	9.100000e-01	0.990000	0.970578	0.990000	1.000000																										0				96								complement component 6							85.0	81.0	82.0					5																	41203349		2203	4300	6503			729	0	0					g.chr5:41203349G>T	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.-17C>A	chr5.hg19:g.41203349G>T		0					C6_ENST00000337836.5_De_novo_Start_OutOfFrame		NM_001115131.1	NP_001108603.2	0	0	0	1.967783	P13671	CO6_HUMAN		0	248	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)		Translation_Start_Site	SNP	ENST00000263413.3	0	1	hg19		CCDS3936.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	0	0	1		14	2	2	1		1	1	93		93	92	1	2.060000	-3.221884	1	0.170000				34	33		327	323	0		1	0		1	0	93	0		9.991069e-01	4.620468e-01	0	0	0	16	0	34	327
OXCT1	5019	broad.mit.edu	37	5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	295					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)			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)	TCCAGGTTTAGCAGATTTGGC	0.423																																						ENST00000196371.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(883-885)gCt>gTt		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						144.0	142.0	143.0					5																	41805740		2203	4300	6503	SO:0001583	missense	5019	0	0					g.chr5:41805740G>A	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.884C>T	chr5.hg19:g.41805740G>A	ENSP00000196371:p.Ala295Val	0					OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	p.A295V	NM_000436.3	NP_000427.1	0	0	0	1.967783	P55809	SCOT1_HUMAN		9	1044	-			B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	1	1	hg19	c.884C>T	CCDS3937.1	1	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758665	0.15846	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79141	-1.24;-1.24	5.22	-5.59	0.02505	5.22	-5.59	0.02505	.	0.837146	0.11006	N	0.609933	T	0.51295	0.1666	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.27082	T	0.32	0.5894	4.0039	0.09592	0.094:0.1396:0.425:0.3415	.	295	P55809	SCOT1_HUMAN	V	295;109	ENSP00000196371:A295V;ENSP00000425348:A109V	ENSP00000196371:A295V	A	-	2	0	0	OXCT1	41841497	41841497	0.055000	0.20627	0.000000	0.03702	0.256000	0.26092	-0.005000	0.12855	-0.846000	0.04174	-0.219000	0.12488	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_000436			84	82		343	332	1		1	1		0	0	84	0		1	9.999979e-01	0	17	0	62	0	84	343
C5orf51	285636	broad.mit.edu	37	5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A	rs370411797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328																																						ENST00000381647.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(532-534)cGa>cAa		chromosome 5 open reading frame 51		G	GLN/ARG	0,4406		0,0,2203	172.0	173.0	173.0		533	5.8	1.0	5		173	1,8595	1.2+/-3.3	0,1,4297	no	missense	C5orf51	NM_175921.4	43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/295	41912217	1,13001	2203	4298	6501	SO:0001583	missense	285636	2	121406	39				g.chr5:41912217G>A	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.533G>A	chr5.hg19:g.41912217G>A	ENSP00000371061:p.Arg178Gln	0						p.R178Q	NM_175921.4	NP_787117.3	0	0	0	1.967783	A6NDU8	CE051_HUMAN		5	552	+			A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	1	1	hg19	c.533G>A	CCDS34151.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.522614	0.96431	0.0	1.16E-4	ENSG00000205765	ENST00000381647	D	0.82526	-1.62	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.34521	1.04	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.88372	0.2995	10	0.87932	D	0	-18.7221	18.3385	0.90297	0.0:0.0:1.0:0.0	.	178	A6NDU8	CE051_HUMAN	Q	178	ENSP00000371061:R178Q	ENSP00000371061:R178Q	R	+	2	0	0	C5orf51	41947974	41947974	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.713000	0.84693	2.767000	0.95098	0.555000	0.69702	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	1	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-20.000000	1	0.170000	NM_175921			104	103		499	490	1		1	0		0	0	143	0		1	9.996723e-01	0	1	0	57	0	104	499
FBXO4	26272	broad.mit.edu	37	5	41939678	41939678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41939678C>T	ENST00000281623.3	+	6	1090	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	345					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)			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)				TTTTATTTGGCTCATGAGCTG	0.368																																						ENST00000281623.3	0.440000	0.120000	3.500000e-01	1.800000e-01	0.250000	0.270388	0.250000	0.250000																										0				27						c.(1033-1035)gCt>gTt		F-box protein 4							138.0	145.0	143.0					5																	41939678		2203	4300	6503	SO:0001583	missense	26272	0	0					g.chr5:41939678C>T	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.1034C>T	chr5.hg19:g.41939678C>T	ENSP00000281623:p.Ala345Val	0					FBXO4_ENST00000509134.1_Intron	p.A345V	NM_012176.2	NP_036308.1	0	0	0	1.967783	Q9UKT5	FBX4_HUMAN		6	1090	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	0	1	hg19	c.1034C>T	CCDS3938.1	0	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738338	0.89573	.	.	ENSG00000151876	ENST00000281623	T	0.57907	0.37	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.69420	-0.5150	10	0.66056	D	0.02	-10.8369	19.4929	0.95059	0.0:1.0:0.0:0.0	.	345	Q9UKT5	FBX4_HUMAN	V	345	ENSP00000281623:A345V	ENSP00000281623:A345V	A	+	2	0	0	FBXO4	41975435	41975435	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.949000	0.70257	2.689000	0.91719	0.556000	0.70494	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.863776	1	0.170000				9	9		412	402	0		1	1		0	0	58	0		9.936731e-01	4.357249e-01	0	3	0	61	0	9	412
GHR	2690	broad.mit.edu	37	5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.F119L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	141					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358																																						ENST00000230882.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				39						c.(421-423)ttC>ttA		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94.0	90.0	91.0					5																	42695175		2203	4300	6503	SO:0001583	missense	2690	0	0					g.chr5:42695175C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.423C>A	chr5.hg19:g.42695175C>A	ENSP00000230882:p.Phe141Leu	0					GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	p.F141L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	0	0	0	1.967783	P10912	GHR_HUMAN		5	613	+		Myeloproliferative disorder(839;0.00878)	Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	1	1	hg19	c.423C>A	CCDS3940.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087062	0.76642	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.95918	-3.85;-3.85	5.14	5.14	0.70334	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97849	1.0273	10	0.62326	D	0.03	-12.8885	15.3502	0.74376	0.0:0.8601:0.1399:0.0	.	141	P10912	GHR_HUMAN	L	141;119;141	ENSP00000230882:F141L;ENSP00000350335:F119L	ENSP00000230882:F141L	F	+	3	2	2	GHR	42730932	42730932	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.603000	0.54074	2.537000	0.85549	0.585000	0.79938	TTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_000163			33	32		145	141	1		1	0		0	0	46	0		1	7.250689e-01	0	0	0	13	0	33	145
GHR	2690	broad.mit.edu	37	5	42699999	42699999	+	Silent	SNP	C	C	T	rs561281010|rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.I149I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions). {ECO:0000269|PubMed:9851797}.		2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418																																						ENST00000230882.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(511-513)atC>atT		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137.0	118.0	124.0					5																	42699999		2203	4300	6503	SO:0001819	synonymous_variant	2690	0	0					g.chr5:42699999C>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.513C>T	chr5.hg19:g.42699999C>T		0					GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	p.I171I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	0	0	0	1.967783	P10912	GHR_HUMAN		6	703	+		Myeloproliferative disorder(839;0.00878)	Q9HCX2	Silent	SNP	ENST00000230882.4	1	1	hg19	c.513C>T	CCDS3940.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_000163			52	52		259	255	1		1	0		0	0	73	0		1	6.233269e-01	0	1	0	11	0	52	259
SEPP1	6414	broad.mit.edu	37	5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	6					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)			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478																																						ENST00000514985.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				15						c.(16-18)gGg>gAg		selenoprotein P, plasma, 1							19.0	20.0	20.0					5																	42808439		1806	4062	5868	SO:0001583	missense	6414	0	0					g.chr5:42808439C>T	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.17G>A	chr5.hg19:g.42808439C>T	ENSP00000420939:p.Gly6Glu	0					SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E	p.G6E	NM_005410.2	NP_005401.3	0	0	0	1.967783	P49908	SEPP1_HUMAN		2	273	-			Q6PD59|Q6PI43|Q6PI87|Q6PJF9	Missense_Mutation	SNP	ENST00000514985.1	1	1	hg19	c.17G>A	CCDS43311.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803324	0.70682	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.51574	2.15;2.15;2.15;1.59;0.7	5.29	4.43	0.53597	5.29	4.43	0.53597	.	0.149429	0.30428	U	0.009652	T	0.51584	0.1683	L	0.57536	1.79	0.29780	N	0.834089	.	.	.	.	.	.	T	0.55964	-0.8057	8	0.59425	D	0.04	.	9.392	0.38378	0.0:0.7799:0.1435:0.0766	.	.	.	.	E	6	ENSP00000420939:G6E;ENSP00000427671:G6E;ENSP00000425915:G6E;ENSP00000421626:G6E;ENSP00000427414:G6E	ENSP00000425915:G6E	G	-	2	0	0	SEPP1	42844196	42844196	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	2.911000	0.48774	1.221000	0.43506	0.650000	0.86243	GGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	0	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_005410			24	24		102	101	0		1	1		0	0	24	0		9.999999e-01	1	0	94	0	1003	0	24	102
ZNF131	7690	broad.mit.edu	37	5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000399534.1	+	5	514	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131	157					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408																																						ENST00000399534.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(469-471)tCa>tTa		zinc finger protein 131							114.0	103.0	106.0					5																	43161449		1879	4122	6001	SO:0001583	missense	7690	0	0					g.chr5:43161449C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.470C>T	chr5.hg19:g.43161449C>T	ENSP00000382450:p.Ser157Leu	0					ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L	p.S157L			0	0	0	1.967783	P52739	ZN131_HUMAN		5	514	+			B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	1	1	hg19	c.470C>T		1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	0	ZNF131	43197206	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_003432			92	89		370	360	1		1	1		0	0	92	0		1	9.999932e-01	0	15	0	56	0	92	370
ZNF131	7690	broad.mit.edu	37	5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000399534.1	+	5	586	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G			P52739	ZN131_HUMAN	zinc finger protein 131	181					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448																																						ENST00000399534.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(541-543)gAt>gGt		zinc finger protein 131							101.0	92.0	95.0					5																	43161521		1946	4136	6082	SO:0001583	missense	7690	0	0					g.chr5:43161521A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.542A>G	chr5.hg19:g.43161521A>G	ENSP00000382450:p.Asp181Gly	0					ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G	p.D181G			0	0	0	1.967783	P52739	ZN131_HUMAN		5	586	+			B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	1	1	hg19	c.542A>G		1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222358	0.39300	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.42	4.27	0.50696	5.42	4.27	0.50696	.	0.154858	0.56097	N	0.000029	T	0.53610	0.1807	N	0.14661	0.345	0.44871	D	0.997882	P;B	0.43094	0.799;0.004	B;B	0.35413	0.202;0.006	T	0.54022	-0.8355	10	0.39692	T	0.17	-16.9118	10.9487	0.47317	0.9268:0.0:0.0732:0.0	.	181;181	P52739;P52739-2	ZN131_HUMAN;.	G	181	ENSP00000422079:D181G;ENSP00000426504:D181G;ENSP00000305804:D181G;ENSP00000382450:D181G;ENSP00000423945:D181G;ENSP00000421246:D181G	ENSP00000305804:D181G	D	+	2	0	0	ZNF131	43197278	43197278	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.655000	0.67981	0.908000	0.36671	0.528000	0.53228	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	1	0	0		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_003432			73	70		310	305	1		1	1		0	0	88	0		1	9.998124e-01	0	12	0	44	0	73	310
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral component of membrane (GO:0016021)		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388																																						ENST00000500337.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										2	Substitution - Missense(2)	p.R162C(2)	large_intestine(1)|lung(1)	9						c.(484-486)Cgt>Tgt		chromosome 5 open reading frame 28							120.0	113.0	115.0					5																	43446488		2203	4300	6503	SO:0001583	missense	64417	1	121412	35				g.chr5:43446488G>A	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.484C>T	chr5.hg19:g.43446488G>A	ENSP00000426067:p.Arg162Cys	0					C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C	p.R162C			0	0	0	1.967783	Q0VDI3	CE028_HUMAN		5	815	-	Lung NSC(6;2.07e-05)		B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	1	1	hg19	c.484C>T	CCDS3945.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	0	C5orf28	43482245	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-3.319196	1	0.170000	NM_022483			63	63		380	375	1		1	1		0	0	110	0		1	9.993955e-01	0	20	0	48	0	63	380
PAIP1	10605	broad.mit.edu	37	5	43533874	43533874	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000514514.1_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	406					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)			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)					CACCATCAGATGTATAAAATG	0.348																																						ENST00000306846.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1216-1218)acA>acG		poly(A) binding protein interacting protein 1							153.0	155.0	154.0					5																	43533874		2203	4300	6503	SO:0001819	synonymous_variant	10605	0	0					g.chr5:43533874T>C	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.1218A>G	chr5.hg19:g.43533874T>C		0					PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000514514.1_Silent_p.T327T	p.T406T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	0	0	0	1.967783	Q9H074	PAIP1_HUMAN		9	1450	-	Lung NSC(6;2.07e-05)		A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	1	1	hg19	c.1218A>G	CCDS3947.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_006451			97	95		450	439	1		1	1		0	0	113	0		1	1	0	64	0	137	0	97	450
NNT	23530	broad.mit.edu	37	5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.S18N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	18					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)			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)					CCTCTACTTAGCAATTTGGGG	0.438																																						ENST00000264663.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999262	0.990000	1.000000																										0				51						c.(52-54)aGc>aAc		nicotinamide nucleotide transhydrogenase							133.0	137.0	135.0					5																	43609350		2203	4300	6503	SO:0001583	missense	23530	0	0					g.chr5:43609350G>A	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.53G>A	chr5.hg19:g.43609350G>A	ENSP00000264663:p.Ser18Asn	0					NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.S18N	p.S18N	NM_012343.3	NP_036475.3	0	0	0	1.967783	Q13423	NNTM_HUMAN		2	274	+	Lung NSC(6;2.58e-06)		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	1	1	hg19	c.53G>A	CCDS3949.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018041	0.35606	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95788	-1.82;-1.83;-3.81;-3.81	5.72	2.2	0.27929	5.72	2.2	0.27929	.	0.357997	0.37261	N	0.002169	D	0.88507	0.6455	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79857	-0.1626	10	0.33940	T	0.23	-6.4642	5.563	0.17154	0.1469:0.106:0.6264:0.1207	rs12653648	18	Q13423	NNTM_HUMAN	N	18	ENSP00000427670:S18N;ENSP00000421886:S18N;ENSP00000264663:S18N;ENSP00000343873:S18N	ENSP00000264663:S18N	S	+	2	0	0	NNT	43645107	43645107	0.997000	0.39634	0.916000	0.36221	0.503000	0.33858	0.857000	0.27831	0.593000	0.29745	0.563000	0.77884	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-15.995980	1	0.170000	NM_182977			36	36		249	243	1		1	1		0	0	56	0		1	9.896394e-01	0	5	0	47	0	36	249
NNT	23530	broad.mit.edu	37	5	43651986	43651986	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000512996.2_Splice_Site_p.Q490H|NNT_ENST00000344920.4_Splice_Site_p.Q621H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	621					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)			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)					ACATTGAACAGGTAAGATGCT	0.383																																						ENST00000264663.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1861-1863)caG>caT		nicotinamide nucleotide transhydrogenase							129.0	133.0	131.0					5																	43651986		2203	4300	6503	SO:0001630	splice_region_variant	23530	0	0					g.chr5:43651986G>T	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.1863+1G>T	chr5.hg19:g.43651986G>T		0					NNT_ENST00000512996.2_Splice_Site_p.Q490H|NNT_ENST00000344920.4_Splice_Site_p.Q621H	p.Q621H	NM_012343.3	NP_036475.3	0	0	0	1.967783	Q13423	NNTM_HUMAN		13	2084	+	Lung NSC(6;2.58e-06)		Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	1	0	hg19	c.1863G>T	CCDS3949.1	1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716944	0.68844	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91843	-2.92;-2.92;-2.92	5.64	2.03	0.26663	5.64	2.03	0.26663	.	0.049448	0.85682	D	0.000000	D	0.94272	0.8160	M	0.82630	2.6	0.80722	D	1	P	0.37441	0.595	P	0.53360	0.724	D	0.92446	0.5966	10	0.59425	D	0.04	-7.8661	7.8211	0.29288	0.4948:0.0:0.5052:0.0	.	621	Q13423	NNTM_HUMAN	H	136;621;621;490	ENSP00000264663:Q621H;ENSP00000343873:Q621H;ENSP00000426343:Q490H	ENSP00000264663:Q621H	Q	+	3	2	2	NNT	43687743	43687743	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.093000	0.50217	0.436000	0.26393	-0.302000	0.09304	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-2.696824	1	0.170000	NM_182977	Missense_Mutation		124	120		614	609	1		1	1		0	0	124	0		1	9.992522e-01	0	5	0	49	0	124	614
NNT	23530	broad.mit.edu	37	5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000512996.2_Missense_Mutation_p.T690S|NNT_ENST00000344920.4_Missense_Mutation_p.T821S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	821					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)			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)					CTAGGGTGTGACTTTGACAGC	0.423																																						ENST00000264663.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2461-2463)Act>Tct		nicotinamide nucleotide transhydrogenase							148.0	147.0	147.0					5																	43659279		2203	4300	6503	SO:0001583	missense	23530	0	0					g.chr5:43659279A>T	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.2461A>T	chr5.hg19:g.43659279A>T	ENSP00000264663:p.Thr821Ser	0					NNT_ENST00000512996.2_Missense_Mutation_p.T690S|NNT_ENST00000344920.4_Missense_Mutation_p.T821S	p.T821S	NM_012343.3	NP_036475.3	0	0	0	1.967783	Q13423	NNTM_HUMAN		17	2682	+	Lung NSC(6;2.58e-06)		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	1	1	hg19	c.2461A>T	CCDS3949.1	1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469504	0.63625	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91407	-2.84;-2.84;-2.84	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.90019	3.08	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	D	0.92962	0.6390	10	0.10902	T	0.67	-26.4641	16.3742	0.83379	1.0:0.0:0.0:0.0	.	821	Q13423	NNTM_HUMAN	S	336;821;821;690	ENSP00000264663:T821S;ENSP00000343873:T821S;ENSP00000426343:T690S	ENSP00000264663:T821S	T	+	1	0	0	NNT	43695036	43695036	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	ACT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000	NM_182977			137	131		620	609	1		1	1		0	0	155	0		1	9.995811e-01	0	6	0	47	0	137	620
NNT	23530	broad.mit.edu	37	5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000512996.2_Missense_Mutation_p.A885S|NNT_ENST00000344920.4_Missense_Mutation_p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1016					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)			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)					TAATTCAGCAGCTCAAGAAGA	0.343																																						ENST00000264663.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000																										0				51						c.(3046-3048)Gct>Tct		nicotinamide nucleotide transhydrogenase							82.0	78.0	79.0					5																	43702773		2203	4300	6503	SO:0001583	missense	23530	0	0					g.chr5:43702773G>T	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.3046G>T	chr5.hg19:g.43702773G>T	ENSP00000264663:p.Ala1016Ser	0					NNT_ENST00000512996.2_Missense_Mutation_p.A885S|NNT_ENST00000344920.4_Missense_Mutation_p.A1016S	p.A1016S	NM_012343.3	NP_036475.3	0	0	0	1.967783	Q13423	NNTM_HUMAN		21	3267	+	Lung NSC(6;2.58e-06)		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	1	1	hg19	c.3046G>T	CCDS3949.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922149	0.92319	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.153952	0.56097	D	0.000025	D	0.97645	0.9228	M	0.90705	3.14	0.80722	D	1	B	0.32350	0.366	P	0.51229	0.663	D	0.96975	0.9711	10	0.72032	D	0.01	-17.2498	20.0036	0.97427	0.0:0.0:1.0:0.0	.	1016	Q13423	NNTM_HUMAN	S	531;1016;1016;885	ENSP00000264663:A1016S;ENSP00000343873:A1016S;ENSP00000426343:A885S	ENSP00000264663:A1016S	A	+	1	0	0	NNT	43738530	43738530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.824000	0.97209	0.655000	0.94253	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_182977			35	35		203	199	1		1	1		0	0	46	0		1	9.999505e-01	0	16	0	75	0	35	203
MRPS30	10884	broad.mit.edu	37	5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	252					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)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303																																						ENST00000507110.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(754-756)Cca>Tca		mitochondrial ribosomal protein S30							65.0	67.0	66.0					5																	44812023		2203	4298	6501	SO:0001583	missense	10884	0	0					g.chr5:44812023C>T	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.754C>T	chr5.hg19:g.44812023C>T	ENSP00000424328:p.Pro252Ser	0						p.P252S	NM_016640.3	NP_057724.2	0	0	0	1.967783	Q9NP92	RT30_HUMAN		3	792	+	Lung NSC(6;8.08e-07)		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	1	1	hg19	c.754C>T	CCDS3951.1	1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386818	0.42308	.	.	ENSG00000112996	ENST00000507110	T	0.16196	2.36	5.46	4.54	0.55810	5.46	4.54	0.55810	.	0.273592	0.42294	D	0.000728	T	0.35740	0.0942	M	0.62016	1.91	0.48901	D	0.999723	D	0.89917	1.0	D	0.72075	0.976	T	0.01956	-1.1240	10	0.24483	T	0.36	-8.3727	14.0727	0.64870	0.0:0.8497:0.1503:0.0	.	252	Q9NP92	RT30_HUMAN	S	252	ENSP00000424328:P252S	ENSP00000424328:P252S	P	+	1	0	0	MRPS30	44847780	44847780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.550000	0.86006	0.655000	0.94253	CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_016640			45	45		178	175	1		1	1		0	0	93	0		1	9.999999e-01	0	15	0	87	0	45	178
HCN1	348980	broad.mit.edu	37	5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670					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)			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						CAGGCTGGTCGCTGTGTACAC	0.587																																						ENST00000303230.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				156						c.(2008-2010)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	133.0	134.0		2009	5.4	0.2	5	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HCN1	NM_021072.3	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	670/891	45262687	3,13003	2203	4300	6503	SO:0001583	missense	348980	7	121412	41				g.chr5:45262687G>A	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.2009C>T	chr5.hg19:g.45262687G>A	ENSP00000307342:p.Ala670Val	0						p.A670V	NM_021072.3	NP_066550.2	0	0	0	1.967783	O60741	HCN1_HUMAN		8	2066	-				Missense_Mutation	SNP	ENST00000303230.4	1	1	hg19	c.2009C>T	CCDS3952.1	1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534289	0.27475	2.27E-4	2.33E-4	ENSG00000164588	ENST00000303230	D	0.97620	-4.46	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	D	0.93432	0.7905	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	D	0.85769	0.1354	10	0.46703	T	0.11	.	10.5844	0.45273	0.0731:0.1347:0.7923:0.0	.	670	O60741	HCN1_HUMAN	V	670	ENSP00000307342:A670V	ENSP00000307342:A670V	A	-	2	0	0	HCN1	45298444	45298444	0.019000	0.18553	0.244000	0.24202	0.967000	0.64934	1.899000	0.39818	2.528000	0.85240	0.563000	0.77884	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_021072			66	65		280	272	1		1	0		0	0	55	0		1	0	0	0	0	1	0	66	280
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467					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)			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						CACCAGTTTCCGACAGTTGAA	0.358																																						ENST00000303230.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				156						c.(1399-1401)cGg>cAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							101.0	105.0	104.0					5																	45303919		2203	4300	6503	SO:0001583	missense	348980	3	121400	39				g.chr5:45303919C>T	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.1400G>A	chr5.hg19:g.45303919C>T	ENSP00000307342:p.Arg467Gln	0						p.R467Q	NM_021072.3	NP_066550.2	0	0	0	1.967783	O60741	HCN1_HUMAN		6	1457	-				Missense_Mutation	SNP	ENST00000303230.4	1	1	hg19	c.1400G>A	CCDS3952.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.398180	0.96030	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.62	5.62	0.85841	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	D	0.52996	0.957	B	0.33846	0.171	D	0.95524	0.8597	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	467	O60741	HCN1_HUMAN	Q	467	ENSP00000307342:R467Q	ENSP00000307342:R467Q	R	-	2	0	0	HCN1	45339676	45339676	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.712581	1	0.170000	NM_021072			100	100		480	476	1		1	0		0	0	96	0		1	0	0	1	0	0	0	100	480
PARP8	79668	broad.mit.edu	37	5	50090042	50090042	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505554.1_Splice_Site_p.I226F|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	247						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338																																						ENST00000281631.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(739-741)Atc>Ttc		poly (ADP-ribose) polymerase family, member 8							82.0	84.0	83.0					5																	50090042		2203	4300	6503	SO:0001630	splice_region_variant	79668	0	0					g.chr5:50090042A>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.738-1A>T	chr5.hg19:g.50090042A>T		0					PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000505554.1_Splice_Site_p.I226F	p.I247F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	0	0	0	1.967783	Q8N3A8	PARP8_HUMAN		11	897	+		Lung NSC(810;0.0305)|Breast(144;0.222)	Q3KRB7|Q6DHZ1|Q9H754	Splice_Site	SNP	ENST00000281631.5	1	0	hg19	c.739A>T	CCDS3954.1	1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986158	0.53934	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43923	1.385	0.80722	D	1	B;D;D	0.53885	0.064;0.962;0.963	B;P;P	0.49853	0.046;0.608;0.624	T	0.49447	-0.8939	8	.	.	.	-13.2808	10.9049	0.47073	0.9264:0.0:0.0736:0.0	.	139;247;247	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	247;247;247;247;226	.	.	I	+	1	0	0	PARP8	50125799	50125799	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.649000	0.74364	2.172000	0.68678	0.533000	0.62120	ATC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_024615	Missense_Mutation		54	54		206	201	1		1	1		0	0	48	0		1	9.998440e-01	0	5	0	48	0	54	206
PARP8	79668	broad.mit.edu	37	5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	444						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438																																						ENST00000281631.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1330-1332)Ctt>Ttt		poly (ADP-ribose) polymerase family, member 8							83.0	86.0	85.0					5																	50091153		2203	4300	6503	SO:0001583	missense	79668	0	0					g.chr5:50091153C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1330C>T	chr5.hg19:g.50091153C>T	ENSP00000281631:p.Leu444Phe	0					PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F	p.L444F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	0	0	0	1.967783	Q8N3A8	PARP8_HUMAN		12	1488	+		Lung NSC(810;0.0305)|Breast(144;0.222)	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	1	1	hg19	c.1330C>T	CCDS3954.1	1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672488	0.47781	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	4.56	0.56223	5.45	4.56	0.56223	.	0.323692	0.29205	N	0.012822	T	0.19485	0.0468	N	0.08118	0	0.30756	N	0.74455	B;P;B	0.43701	0.177;0.815;0.437	B;B;B	0.37047	0.068;0.24;0.068	T	0.04203	-1.0969	8	.	.	.	-5.7094	15.8371	0.78808	0.1369:0.8631:0.0:0.0	.	336;444;444	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	444;444;197;444;444;423;197;197	.	.	L	+	1	0	0	PARP8	50126910	50126910	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	1.379000	0.46325	0.650000	0.86243	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_024615			72	71		386	376	1		1	1		0	0	99	0		1	9.999985e-01	0	8	0	97	0	72	386
ITGA1	3672	broad.mit.edu	37	5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTTCTACGCTGCTGCGTA	0.373																																						ENST00000282588.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(70-72)cGc>cAc		integrin, alpha 1							138.0	138.0	138.0					5																	52145208		2203	4300	6503	SO:0001583	missense	3672	4	121402	36				g.chr5:52145208G>A	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.71G>A	chr5.hg19:g.52145208G>A	ENSP00000282588:p.Arg24His	0						p.R24H	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		2	529	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	1	1	hg19	c.71G>A	CCDS3955.1	1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223791	0.09863	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	3.64	0.41730	5.53	3.64	0.41730	.	0.976260	0.08444	N	0.944947	T	0.69450	0.3112	N	0.12182	0.205	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.13108	T	0.6	.	5.7312	0.18040	0.1697:0.1607:0.6696:0.0	.	24	P56199	ITA1_HUMAN	H	24	ENSP00000282588:R24H	ENSP00000282588:R24H	R	+	2	0	0	ITGA1	52180965	52180965	1.000000	0.71417	0.802000	0.32245	0.020000	0.10135	1.070000	0.30653	1.493000	0.48517	-0.138000	0.14375	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.670499	1	0.170000	NM_181501			54	53		206	203	1		1	1		0	0	64	0		1	9.999999e-01	0	4	0	93	0	54	206
ITGA1	3672	broad.mit.edu	37	5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	106					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318																																						ENST00000282588.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				51						c.(316-318)Gtc>Atc		integrin, alpha 1							74.0	76.0	76.0					5																	52160617		2203	4298	6501	SO:0001583	missense	3672	0	0					g.chr5:52160617G>A	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.316G>A	chr5.hg19:g.52160617G>A	ENSP00000282588:p.Val106Ile	0						p.V106I	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		4	774	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	1	1	hg19	c.316G>A	CCDS3955.1	1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474008	0.43942	.	.	ENSG00000213949	ENST00000282588	T	0.71341	-0.56	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.132263	0.53938	D	0.000056	T	0.53417	0.1795	N	0.13235	0.315	0.40578	D	0.981368	P	0.36282	0.546	B	0.35312	0.2	T	0.56408	-0.7984	10	0.33940	T	0.23	.	13.273	0.60172	0.0726:0.0:0.9274:0.0	.	106	P56199	ITA1_HUMAN	I	106	ENSP00000282588:V106I	ENSP00000282588:V106I	V	+	1	0	0	ITGA1	52196374	52196374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.087000	0.50167	2.810000	0.96702	0.585000	0.79938	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_181501			40	40		175	171	1		1	1		0	0	32	0		1	1	0	43	0	240	0	40	175
ITGA1	3672	broad.mit.edu	37	5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	667					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCCCGAGATGTGGCCGTAGT	0.378																																						ENST00000282588.6	0.900000	0.300000	7.300000e-01	4.200000e-01	0.560000	0.581799	0.560000	0.550000																										0				51						c.(1999-2001)Gtg>Atg		integrin, alpha 1							117.0	104.0	109.0					5																	52214572		2203	4299	6502	SO:0001583	missense	3672	0	0					g.chr5:52214572G>A	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.1999G>A	chr5.hg19:g.52214572G>A	ENSP00000282588:p.Val667Met	0						p.V667M	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		16	2457	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	1	1	hg19	c.1999G>A	CCDS3955.1	0	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879359	0.91740	.	.	ENSG00000213949	ENST00000282588	D	0.82893	-1.66	5.51	5.51	0.81932	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89183	0.3545	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	667	P56199	ITA1_HUMAN	M	667	ENSP00000282588:V667M	ENSP00000282588:V667M	V	+	1	0	0	ITGA1	52250329	52250329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.973000	0.76116	2.738000	0.93877	0.655000	0.94253	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-14.228730	1	0.170000	NM_181501			12	12		239	234	0		1	1		0	0	31	0		9.990741e-01	9.999802e-01	0	21	0	405	0	12	239
ITGA1	3672	broad.mit.edu	37	5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338																																						ENST00000282588.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2365-2367)gTt>gGt		integrin, alpha 1							136.0	130.0	132.0					5																	52218680		2203	4300	6503	SO:0001583	missense	3672	0	0					g.chr5:52218680T>G	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.2366T>G	chr5.hg19:g.52218680T>G	ENSP00000282588:p.Val789Gly	0						p.V789G	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		18	2824	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	1	1	hg19	c.2366T>G	CCDS3955.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439252	0.83885	.	.	ENSG00000213949	ENST00000282588	T	0.57273	0.41	5.9	5.9	0.94986	5.9	5.9	0.94986	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.70360	0.3215	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.73164	-0.4069	10	0.87932	D	0	.	16.3264	0.82983	0.0:0.0:0.0:1.0	.	789	P56199	ITA1_HUMAN	G	789	ENSP00000282588:V789G	ENSP00000282588:V789G	V	+	2	0	0	ITGA1	52254437	52254437	1.000000	0.71417	0.556000	0.28293	0.995000	0.86356	6.327000	0.72910	2.259000	0.74868	0.374000	0.22700	GTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_181501			89	85		496	490	1		1	1		0	0	102	0		1	1	0	62	0	378	0	89	496
ITGA1	3672	broad.mit.edu	37	5	52229781	52229781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	973					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269																																						ENST00000282588.6	1.000000	0.880000	1	9.900000e-01	0.990000	0.992877	0.990000	1.000000																										0				51						c.(2917-2919)atT>atC		integrin, alpha 1							41.0	46.0	44.0					5																	52229781		2199	4279	6478	SO:0001819	synonymous_variant	3672	0	0					g.chr5:52229781T>C	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.2919T>C	chr5.hg19:g.52229781T>C		0					CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	p.I973I	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		23	3377	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Silent	SNP	ENST00000282588.6	1	1	hg19	c.2919T>C	CCDS3955.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_181501			30	30		242	237	1		1	1		0	0	53	0		1	1	0	24	0	358	0	30	242
ITGA1	3672	broad.mit.edu	37	5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1103					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328																																						ENST00000282588.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(3307-3309)Ctt>Att		integrin, alpha 1							100.0	114.0	109.0					5																	52240794		2203	4299	6502	SO:0001583	missense	3672	0	0					g.chr5:52240794C>A	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.3307C>A	chr5.hg19:g.52240794C>A	ENSP00000282588:p.Leu1103Ile	0					CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	p.L1103I	NM_181501.1	NP_852478.1	0	0	0	1.967783	P56199	ITA1_HUMAN		27	3765	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	1	1	hg19	c.3307C>A	CCDS3955.1	1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966775	0.53507	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.058135	0.64402	D	0.000001	T	0.41581	0.1165	L	0.41079	1.255	0.41696	D	0.989375	P	0.48911	0.917	P	0.44447	0.45	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.5106	0.56003	0.1665:0.8335:0.0:0.0	.	1103	P56199	ITA1_HUMAN	I	1103	ENSP00000282588:L1103I	ENSP00000282588:L1103I	L	+	1	0	0	ITGA1	52276551	52276551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.958000	0.40402	2.797000	0.96272	0.655000	0.94253	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_181501			98	97		426	415	1		1	1		0	0	139	0		1	1	0	11	0	548	0	98	426
MOCS2	4338	broad.mit.edu	37	5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403																																						ENST00000396954.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(484-486)gTg>gCg		molybdenum cofactor synthesis 2							90.0	93.0	92.0					5																	52396257		2203	4300	6503	SO:0001583	missense	4338	0	0					g.chr5:52396257A>G	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.485T>C	chr5.hg19:g.52396257A>G	ENSP00000380157:p.Val162Ala	0					MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_3'UTR	p.V162A	NM_004531.3	NP_004522.1	0	0	0	1.967783				6	1162	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)		Missense_Mutation	SNP	ENST00000396954.3	1	1	hg19	c.485T>C	CCDS3958.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497555	0.85069	.	.	ENSG00000164172	ENST00000396954	T	0.22539	1.95	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.123423	0.56097	D	0.000038	T	0.41259	0.1151	M	0.62154	1.92	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.08889	-1.0700	10	0.33940	T	0.23	-7.8556	15.3584	0.74448	1.0:0.0:0.0:0.0	.	162	O96007	MOC2B_HUMAN	A	162	ENSP00000380157:V162A	ENSP00000380157:V162A	V	-	2	0	0	MOCS2	52432014	52432014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.279000	0.76181	0.533000	0.62120	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_183418			55	54		277	270	1		1	1		0	0	78	0		1	1	0	56	0	168	0	55	277
FST	10468	broad.mit.edu	37	5	52778894	52778894	+	Silent	SNP	C	C	T	rs187224046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000256759.3	+	2	653	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000396947.3_Silent_p.P90P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	90	TB.				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)			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)				ACTGCATCCCCTGTAAAGGTA	0.577											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(268-270)ccC>ccT		follistatin							57.0	61.0	60.0					5																	52778894		2203	4300	6503	SO:0001819	synonymous_variant	10468	0	0					g.chr5:52778894C>T	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.270C>T	chr5.hg19:g.52778894C>T		0		OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	FST_ENST00000396947.3_Silent_p.P90P	p.P90P	NM_013409.2	NP_037541.1	0	0	0	1.967783	P19883	FST_HUMAN		2	653	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	1	1	hg19	c.270C>T	CCDS3959.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-2.767463	1	0.170000	NM_013409			57	56		246	245	1		1	1		0	0	71	0		1	9.226533e-01	0	4	0	17	0	57	246
FST	10468	broad.mit.edu	37	5	52779404	52779404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000256759.3	+	3	731	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000396947.3_Silent_p.C116C	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	116	Follistatin-like 1.|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)			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)				AACCCCGCTGCGTCTGCGCCC	0.502																																						ENST00000256759.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(346-348)tgC>tgT		follistatin							73.0	72.0	72.0					5																	52779404		2203	4300	6503	SO:0001819	synonymous_variant	10468	2	121412	32				g.chr5:52779404C>T	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.348C>T	chr5.hg19:g.52779404C>T		0					FST_ENST00000396947.3_Silent_p.C116C	p.C116C	NM_013409.2	NP_037541.1	0	0	0	1.967783	P19883	FST_HUMAN		3	731	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	1	1	hg19	c.348C>T	CCDS3959.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_013409			47	46		204	202	1		1	1		0	0	82	0		1	9.928527e-01	0	8	0	28	0	47	204
SNX18	112574	broad.mit.edu	37	5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000326277.3	+	1	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C|SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	320	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627																																						ENST00000326277.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(958-960)tAc>tGc		sorting nexin 18							46.0	44.0	45.0					5																	53814741		2203	4300	6503	SO:0001583	missense	112574	0	0					g.chr5:53814741A>G	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.959A>G	chr5.hg19:g.53814741A>G	ENSP00000317332:p.Tyr320Cys	0					SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C|SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C	p.Y320C	NM_052870.2	NP_443102.2	0	0	0	1.967783	Q96RF0	SNX18_HUMAN		1	1149	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	1	1	hg19	c.959A>G	CCDS3962.1	1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161752	0.38119	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.39997	1.05;1.05;1.05	4.8	2.33	0.28932	4.8	2.33	0.28932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92738	3.34	0.53005	D	0.999964	D;D	0.76494	0.997;0.999	D;D	0.79108	0.911;0.992	T	0.68243	-0.5460	10	0.87932	D	0	-19.6997	8.0741	0.30706	0.7244:0.1411:0.0:0.1345	.	320;320	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	320	ENSP00000342276:Y320C;ENSP00000370817:Y320C;ENSP00000317332:Y320C	ENSP00000317332:Y320C	Y	+	2	0	0	SNX18	53850498	53850498	1.000000	0.71417	0.298000	0.25002	0.377000	0.30045	9.121000	0.94375	0.309000	0.22966	-0.472000	0.04984	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				45	45		215	211	1		1	1		0	0	45	0		1	9.999998e-01	0	21	0	95	0	45	215
SNX18	112574	broad.mit.edu	37	5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000326277.3	+	1	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000343017.6_Missense_Mutation_p.V587F|SNX18_ENST00000381410.4_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	587	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493																																						ENST00000326277.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1759-1761)Gtc>Ttc		sorting nexin 18							74.0	75.0	75.0					5																	53815541		2203	4300	6503	SO:0001583	missense	112574	0	0					g.chr5:53815541G>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1759G>T	chr5.hg19:g.53815541G>T	ENSP00000317332:p.Val587Phe	0					SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Missense_Mutation_p.V587F	p.V587F	NM_052870.2	NP_443102.2	0	0	0	1.967783	Q96RF0	SNX18_HUMAN		1	1949	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	1	1	hg19	c.1759G>T	CCDS3962.1	1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881811	0.17467	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	T;T	0.14391	2.51;2.62	3.06	0.213	0.15244	3.06	0.213	0.15244	.	0.215838	0.39210	N	0.001424	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.20955	0.032	T	0.34329	-0.9833	10	0.87932	D	0	-1.5102	7.3114	0.26477	0.107:0.342:0.5509:0.0	.	587	Q96RF0	SNX18_HUMAN	F	587	ENSP00000342276:V587F;ENSP00000317332:V587F	ENSP00000317332:V587F	V	+	1	0	0	SNX18	53851298	53851298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.078000	0.11375	-0.229000	0.09854	-1.268000	0.01426	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				66	65		251	247	1		1	1		0	0	61	0		1	2.838923e-01	0	2	0	3	0	66	251
GZMK	3003	broad.mit.edu	37	5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438																																						ENST00000231009.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(382-384)cTc>cGc		granzyme K (granzyme 3; tryptase II)							76.0	80.0	79.0					5																	54327211		2203	4300	6503	SO:0001583	missense	3003	0	0					g.chr5:54327211T>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.383T>G	chr5.hg19:g.54327211T>G	ENSP00000231009:p.Leu128Arg	0					CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	p.L128R	NM_002104.2	NP_002095.1	0	0	0	1.967783	P49863	GRAK_HUMAN		4	453	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	B2R563	Missense_Mutation	SNP	ENST00000231009.2	1	1	hg19	c.383T>G	CCDS3964.1	1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789054	0.31685	.	.	ENSG00000113088	ENST00000231009	D	0.90133	-2.62	4.78	4.78	0.61160	4.78	4.78	0.61160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.24492	N	0.038041	D	0.93449	0.7910	M	0.77313	2.365	0.35020	D	0.75771	P	0.35124	0.485	P	0.48840	0.592	D	0.97186	0.9854	10	0.87932	D	0	.	13.4165	0.60972	0.0:0.0:0.0:1.0	.	128	P49863	GRAK_HUMAN	R	128	ENSP00000231009:L128R	ENSP00000231009:L128R	L	+	2	0	0	GZMK	54362968	54362968	0.010000	0.17322	0.095000	0.20976	0.263000	0.26337	0.943000	0.29030	2.011000	0.59026	0.533000	0.62120	CTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_002104			77	73		359	358	1		1	0		0	0	72	0		1	8.882624e-01	0	0	0	20	0	77	359
CDC20B	166979	broad.mit.edu	37	5	54416252	54416252	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000381375.2	-	10	1487		c.e10+1		CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448																																						ENST00000381375.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.e10+1		cell division cycle 20B							168.0	159.0	162.0					5																	54416252		2203	4300	6503	SO:0001630	splice_region_variant	166979	0	0					g.chr5:54416252C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1341+1G>A	chr5.hg19:g.54416252C>T		0					CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site|CDC20B_ENST00000322374.6_Intron				0	0	0	1.967783	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)	10	1487	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Splice_Site	SNP	ENST00000381375.2	1	1	hg19		CCDS54852.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232330	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375	.	.	.	4.61	4.61	0.57282	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CDC20B	54452009	54452009	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.747000	0.68689	2.556000	0.86216	0.655000	0.94253	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_152623	Intron		93	93		425	419	1		1			0	0	106	0		1	0	0	0	0	0	0	93	425
CDC20B	166979	broad.mit.edu	37	5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000381375.2	-	3	288	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381375.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(142-144)aAt>aGt		cell division cycle 20B							70.0	66.0	67.0					5																	54442668		2203	4300	6503	SO:0001583	missense	166979	0	0					g.chr5:54442668T>C	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.143A>G	chr5.hg19:g.54442668T>C	ENSP00000370781:p.Asn48Ser	0		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S	p.N48S			0	0	0	1.967783	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)	3	288	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	1	1	hg19	c.143A>G	CCDS54852.1	1	.	.	.	.	.	.	.	.	.	.	T	4.960	0.178261	0.09443	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;2.31	4.79	0.18	0.15068	4.79	0.18	0.15068	.	0.978663	0.08339	N	0.961176	T	0.14614	0.0353	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.34453	-0.9828	10	0.10902	T	0.67	-9.7405	5.6196	0.17450	0.0:0.2196:0.4748:0.3055	.	48;48;48;48	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	48;48;48;48;27	ENSP00000335664:N48S;ENSP00000296733:N48S;ENSP00000370781:N48S;ENSP00000315720:N48S;ENSP00000330566:N27S	ENSP00000296733:N48S	N	-	2	0	0	CDC20B	54478425	54478425	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.066000	0.14489	0.137000	0.18759	-0.280000	0.10049	AAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_152623			43	41		190	187	0		1			0	0	50	0		1	0	0	0	0	0	0	43	190
CCNO	10309	broad.mit.edu	37	5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	335					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582																																						ENST00000282572.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1003-1005)Ctg>Atg		cyclin O							70.0	71.0	71.0					5																	54527253		2203	4300	6503	SO:0001583	missense	10309	0	0					g.chr5:54527253G>T	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1003C>A	chr5.hg19:g.54527253G>T	ENSP00000282572:p.Leu335Met	0					RP11-506H20.1_ENST00000506435.1_RNA	p.L335M	NM_021147.3	NP_066970.3	0	0	0	1.967783	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)	3	1159	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	1	1	hg19	c.1003C>A	CCDS34157.1	1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819454	0.50633	.	.	ENSG00000152669	ENST00000282572	T	0.26518	1.73	5.7	1.29	0.21616	5.7	1.29	0.21616	.	0.215519	0.37095	N	0.002246	T	0.35451	0.0932	L	0.50333	1.59	0.32880	D	0.510423	D	0.56968	0.978	P	0.61940	0.896	T	0.44620	-0.9316	10	0.59425	D	0.04	.	7.2781	0.26296	0.2535:0.0:0.6241:0.1224	.	335	P22674	CCNO_HUMAN	M	335	ENSP00000282572:L335M	ENSP00000282572:L335M	L	-	1	2	2	CCNO	54563010	54563010	0.981000	0.34729	0.998000	0.56505	0.615000	0.37417	1.260000	0.32968	0.322000	0.23283	0.561000	0.74099	CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	1	0	0		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_021147			57	56		307	303	1		1	1		0	0	69	0		1	7.963831e-01	0	6	0	12	0	57	307
CCNO	10309	broad.mit.edu	37	5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	330					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592																																						ENST00000282572.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(988-990)tCc>tTc		cyclin O							72.0	73.0	73.0					5																	54527267		2203	4300	6503	SO:0001583	missense	10309	2	121412	35				g.chr5:54527267G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.989C>T	chr5.hg19:g.54527267G>A	ENSP00000282572:p.Ser330Phe	0					RP11-506H20.1_ENST00000506435.1_RNA	p.S330F	NM_021147.3	NP_066970.3	0	0	0	1.967783	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)	3	1145	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	1	1	hg19	c.989C>T	CCDS34157.1	1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321669	0.41096	.	.	ENSG00000152669	ENST00000282572	T	0.19394	2.15	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.363150	0.27673	N	0.018331	T	0.31513	0.0799	L	0.35414	1.06	0.23984	N	0.996264	D	0.60575	0.988	P	0.59288	0.855	T	0.22941	-1.0202	10	0.15499	T	0.54	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	330	P22674	CCNO_HUMAN	F	330	ENSP00000282572:S330F	ENSP00000282572:S330F	S	-	2	0	0	CCNO	54563024	54563024	0.989000	0.36119	0.683000	0.30040	0.765000	0.43378	4.199000	0.58426	2.696000	0.92011	0.561000	0.74099	TCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-3.323042	1	0.170000	NM_021147			56	55		313	311	1		1	1		0	0	60	0		1	7.231667e-01	0	6	0	10	0	56	313
SKIV2L2	23517	broad.mit.edu	37	5	54603911	54603911	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54603911A>G	ENST00000230640.5	+	1	324	c.70A>G	c.(70-72)Aaa>Gaa	p.K24E	SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR|DHX29_ENST00000251636.5_5'Flank	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	24					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)			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)				GGCGGGAACCAAAAAAGACAA	0.522																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(70-72)Aaa>Gaa		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							84.0	81.0	82.0					5																	54603911		2203	4300	6503	SO:0001583	missense	23517	0	0					g.chr5:54603911A>G	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.70A>G	chr5.hg19:g.54603911A>G	ENSP00000230640:p.Lys24Glu	0					SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR|DHX29_ENST00000251636.5_5'Flank	p.K24E	NM_015360.4	NP_056175.3	0	0	0	1.967783	P42285	SK2L2_HUMAN		1	324	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	1	0	hg19	c.70A>G	CCDS3967.1	1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562108	0.45590	.	.	ENSG00000039123	ENST00000230640	T	0.32753	1.44	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.395813	0.27730	N	0.018097	T	0.23926	0.0579	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07693	-1.0759	10	0.09843	T	0.71	.	8.6538	0.34051	0.8302:0.0:0.0:0.1698	.	24	P42285	SK2L2_HUMAN	E	24	ENSP00000230640:K24E	ENSP00000230640:K24E	K	+	1	0	0	SKIV2L2	54639668	54639668	0.997000	0.39634	0.985000	0.45067	0.835000	0.47333	3.739000	0.55075	2.254000	0.74563	0.459000	0.35465	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1		2	2	2	0		0	0	103		103	88	1	2.060000	-3.281557	1	0.170000				96	94		413	372	1		1	1		0	0	103	0		1	9.999968e-01	0	33	0	47	0	96	413
SKIV2L2	23517	broad.mit.edu	37	5	54674996	54674996	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	675					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)			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)				GAGTAGTGGTGAATTTCTCAA	0.294																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2023-2025)gtG>gtT		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							50.0	56.0	54.0					5																	54674996		2203	4298	6501	SO:0001819	synonymous_variant	23517	0	0					g.chr5:54674996G>T	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.2025G>T	chr5.hg19:g.54674996G>T		0					SKIV2L2_ENST00000545714.1_Silent_p.V574V	p.V675V	NM_015360.4	NP_056175.3	0	0	0	1.967783	P42285	SK2L2_HUMAN		18	2279	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	1	1	hg19	c.2025G>T	CCDS3967.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				42	41		170	165	1		1	1		0	0	62	0		1	1	0	81	0	221	0	42	170
SKIV2L2	23517	broad.mit.edu	37	5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	914					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)			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)				TGCTTTGTGTTTCAAGAGAAT	0.323																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2740-2742)tTt>tGt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							164.0	147.0	153.0					5																	54706447		2203	4300	6503	SO:0001583	missense	23517	0	0					g.chr5:54706447T>G	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.2741T>G	chr5.hg19:g.54706447T>G	ENSP00000230640:p.Phe914Cys	0					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	p.F914C	NM_015360.4	NP_056175.3	0	0	0	1.967783	P42285	SK2L2_HUMAN		23	2995	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	1	1	hg19	c.2741T>G	CCDS3967.1	1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758141	0.49468	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.25749	1.78;1.78	5.1	5.1	0.69264	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.33093	0.98	0.80722	D	1	B;B	0.23650	0.07;0.089	B;B	0.29353	0.043;0.101	T	0.03717	-1.1010	10	0.35671	T	0.21	-32.1727	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813;914	F5H7E2;P42285	.;SK2L2_HUMAN	C	914;813	ENSP00000230640:F914C;ENSP00000442583:F813C	ENSP00000230640:F914C	F	+	2	0	0	SKIV2L2	54742204	54742204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.549000	0.82163	2.047000	0.60756	0.482000	0.46254	TTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000				69	66		357	352	1		1	1		0	0	90	0		1	1	0	107	0	203	0	69	357
DDX4	54514	broad.mit.edu	37	5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C	rs202041209	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	82	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			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)				TACATCCACAATGGGTGGTTT	0.318																																						ENST00000505374.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(244-246)Atg>Ctg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							134.0	132.0	133.0					5																	55059041		2203	4300	6503	SO:0001583	missense	54514	0	0					g.chr5:55059041A>C	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.244A>C	chr5.hg19:g.55059041A>C	ENSP00000424838:p.Met82Leu	0					DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L	p.M82L	NM_024415.2	NP_077726.1	0	0	0	1.967783	Q9NQI0	DDX4_HUMAN		5	336	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	1	1	hg19	c.244A>C	CCDS3969.1	1	.	.	.	.	.	.	.	.	.	.	A	3.374	-0.127770	0.06753	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.43294	2.08;2.06;2.1;3.58;0.98;0.97;2.08;0.95	4.99	-7.6	0.01303	4.99	-7.6	0.01303	.	0.763357	0.11712	N	0.536851	T	0.25269	0.0614	L	0.36672	1.1	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	0.22382	-1.0218	10	0.17832	T	0.49	-15.6323	11.6015	0.51006	0.7513:0.1138:0.1349:0.0	.	82;82;82	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	82;82;82;82;56;82;82;82;82	ENSP00000334167:M82L;ENSP00000425359:M82L;ENSP00000424838:M82L;ENSP00000427167:M82L;ENSP00000424779:M56L;ENSP00000424112:M82L;ENSP00000347087:M82L;ENSP00000427522:M82L	ENSP00000334167:M82L	M	+	1	0	0	DDX4	55094798	55094798	0.001000	0.12720	0.005000	0.12908	0.082000	0.17680	-1.309000	0.02728	-1.647000	0.01511	-0.467000	0.05162	ATG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_024415			59	58		289	284	1		1			0	0	61	0		1	0	0	0	0	0	0	59	289
DDX4	54514	broad.mit.edu	37	5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	180	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			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)				CGCACTGGTGGCCTTTTTGGT	0.338																																						ENST00000505374.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(538-540)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							105.0	105.0	105.0					5																	55076936		2203	4300	6503	SO:0001583	missense	54514	0	0					g.chr5:55076936G>A	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.539G>A	chr5.hg19:g.55076936G>A	ENSP00000424838:p.Gly180Asp	0					DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D	p.G180D	NM_024415.2	NP_077726.1	0	0	0	1.967783	Q9NQI0	DDX4_HUMAN		9	631	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	1	1	hg19	c.539G>A	CCDS3969.1	1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993511	0.54041	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.25085	1.91;1.85;1.82;3.35;1.91;1.87	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.248184	0.39475	N	0.001360	T	0.17831	0.0428	N	0.22421	0.69	0.35274	D	0.780699	P;P;B;P	0.43826	0.547;0.779;0.41;0.818	B;B;B;B	0.37650	0.245;0.184;0.211;0.255	T	0.14896	-1.0456	10	0.37606	T	0.19	-24.5727	14.5308	0.67923	0.0:0.0:1.0:0.0	.	160;47;146;180	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	D	146;160;180;160;146;47	ENSP00000334167:G146D;ENSP00000425359:G160D;ENSP00000424838:G180D;ENSP00000427167:G160D;ENSP00000347087:G146D;ENSP00000423123:G47D	ENSP00000334167:G146D	G	+	2	0	0	DDX4	55112693	55112693	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.772000	0.47678	2.801000	0.96364	0.650000	0.86243	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_024415			70	69		340	335	1		1			0	0	59	0		1	0	0	0	0	0	0	70	340
DDX4	54514	broad.mit.edu	37	5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	527					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)			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)				CCAGTTCTCAAAAAGAGAAAA	0.333																																						ENST00000505374.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1579-1581)Aaa>Caa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							123.0	122.0	123.0					5																	55094363		2203	4300	6503	SO:0001583	missense	54514	0	0					g.chr5:55094363A>C	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.1579A>C	chr5.hg19:g.55094363A>C	ENSP00000424838:p.Lys527Gln	0					DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q	p.K527Q	NM_024415.2	NP_077726.1	0	0	0	1.967783	Q9NQI0	DDX4_HUMAN		18	1671	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	1	1	hg19	c.1579A>C	CCDS3969.1	1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575244	0.86542	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.96459	-4.02;-4.02;-4.02;2.4;-4.02;-4.02	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.99336	4.52	0.58432	D	0.999993	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	0.99066	1.0832	10	0.87932	D	0	-17.7786	15.951	0.79840	1.0:0.0:0.0:0.0	.	507;378;493;527	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Q	493;507;527;507;493;378	ENSP00000334167:K493Q;ENSP00000425359:K507Q;ENSP00000424838:K527Q;ENSP00000427167:K507Q;ENSP00000347087:K493Q;ENSP00000423123:K378Q	ENSP00000334167:K493Q	K	+	1	0	0	DDX4	55130120	55130120	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.871000	0.92346	2.172000	0.68678	0.533000	0.62120	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_024415			100	97		420	408	1		1			0	0	89	0		1	0	0	0	0	0	0	100	420
DDX4	54514	broad.mit.edu	37	5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	659	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)				TCTAGTAAAAGTATTGACAGA	0.348																																						ENST00000505374.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1975-1977)Gta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							129.0	130.0	130.0					5																	55110988		2203	4300	6503	SO:0001583	missense	54514	0	0					g.chr5:55110988G>T	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.1975G>T	chr5.hg19:g.55110988G>T	ENSP00000424838:p.Val659Leu	0					DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L	p.V659L	NM_024415.2	NP_077726.1	0	0	0	1.967783	Q9NQI0	DDX4_HUMAN		20	2067	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	1	1	hg19	c.1975G>T	CCDS3969.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111772	0.37242	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.54	4.67	0.58626	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.129390	0.52532	D	0.000067	D	0.86121	0.5857	N	0.00841	-1.15	0.42344	D	0.99234	B;P;P;D	0.71674	0.189;0.949;0.562;0.998	B;P;B;D	0.75484	0.155;0.53;0.32;0.986	D	0.87474	0.2416	10	0.38643	T	0.18	-13.0889	10.3328	0.43833	0.1493:0.0:0.8507:0.0	.	639;510;625;659	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	625;639;659;625;510	ENSP00000334167:V625L;ENSP00000425359:V639L;ENSP00000424838:V659L;ENSP00000347087:V625L;ENSP00000423123:V510L	ENSP00000334167:V625L	V	+	1	0	0	DDX4	55146745	55146745	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	3.229000	0.51278	1.345000	0.45676	0.561000	0.74099	GTA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_024415			111	108		533	527	1		1			0	0	115	0		1	0	0	0	0	0	0	111	533
IL31RA	133396	broad.mit.edu	37	5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000447346.2	+	10	1365	c.1300T>G	c.(1300-1302)Ttg>Gtg	p.L434V	IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000396834.1_Missense_Mutation_p.L415V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	402	Fibronectin type-III 5. {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)			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)				GTATCCAATGTTGCATGACAA	0.438																																						ENST00000447346.2	0.780000	0.250000	6.300000e-01	3.500000e-01	0.480000	0.500853	0.480000	0.470000																										0				21						c.(1300-1302)Ttg>Gtg		interleukin 31 receptor A							116.0	103.0	107.0					5																	55203234		2203	4300	6503	SO:0001583	missense	133396	0	0					g.chr5:55203234T>G	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.1300T>G	chr5.hg19:g.55203234T>G	ENSP00000415900:p.Leu434Val	0					IL31RA_ENST00000396834.1_Missense_Mutation_p.L415V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V	p.L434V	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	0	0	0	1.967783	Q8NI17	IL31R_HUMAN		10	1365	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	1	1	hg19	c.1300T>G	CCDS3970.2	0	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545020	0.13312	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.78	0.436	0.16549	5.78	0.436	0.16549	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.773311	0.12435	N	0.469226	T	0.36110	0.0955	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.29988	0.068;0.112;0.112;0.112;0.264	B;B;B;B;B	0.24701	0.014;0.032;0.032;0.032;0.055	T	0.25502	-1.0130	10	0.31617	T	0.26	-20.9055	1.2853	0.02049	0.3049:0.0871:0.158:0.45	.	402;434;415;434;434	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	V	434;415;434;434;292;292;415	ENSP00000380048:L434V;ENSP00000380046:L415V;ENSP00000415900:L434V;ENSP00000351935:L434V;ENSP00000297015:L292V;ENSP00000427533:L292V;ENSP00000347047:L415V	ENSP00000297015:L292V	L	+	1	2	2	IL31RA	55238991	55238991	0.000000	0.05858	0.008000	0.14137	0.430000	0.31655	-0.124000	0.10595	0.504000	0.28082	0.533000	0.62120	TTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-13.496530	1	0.170000	NM_139017			11	10		259	250	0		1	0		0	0	47	0		9.980618e-01	6.087837e-03	0	0	0	3	0	11	259
IL6ST	3572	broad.mit.edu	37	5	55237234	55237234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000502326.3_Silent_p.R811R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	811					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433			O		hepatocellular ca																																	ENST00000381298.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q11	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""				E	E			hepatocellular ca		0				26						c.(2431-2433)agG>agA		interleukin 6 signal transducer							95.0	97.0	96.0					5																	55237234		2203	4300	6503	SO:0001819	synonymous_variant	3572	0	0					g.chr5:55237234C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2433G>A	chr5.hg19:g.55237234C>T		0					IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000502326.3_Silent_p.R811R|CTD-2031P19.5_ENST00000576302.1_RNA	p.R811R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	0	0	0	1.967783	P40189	IL6RB_HUMAN		17	2745	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	1	1	hg19	c.2433G>A	CCDS3971.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_002184			129	126		538	530	0		1	1		0	0	117	0		1	1	0	26	0	325	0	129	538
IL6ST	3572	broad.mit.edu	37	5	55237336	55237336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000502326.3_Silent_p.F777F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	777					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463			O		hepatocellular ca																																	ENST00000381298.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		5	5q11	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""				E	E			hepatocellular ca		0				26						c.(2329-2331)ttC>ttT		interleukin 6 signal transducer							126.0	126.0	126.0					5																	55237336		2203	4300	6503	SO:0001819	synonymous_variant	3572	0	0					g.chr5:55237336G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2331C>T	chr5.hg19:g.55237336G>A		0					IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000502326.3_Silent_p.F777F|CTD-2031P19.5_ENST00000576302.1_RNA	p.F777F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	0	0	0	1.967783	P40189	IL6RB_HUMAN		17	2643	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	1	1	hg19	c.2331C>T	CCDS3971.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-20.000000	1	0.170000	NM_002184			101	98		461	446	1		1	1		0	0	110	0		1	1	0	44	0	454	0	101	461
IL6ST	3572	broad.mit.edu	37	5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAGGTCCTTTGGAAGGTGC	0.343			O		hepatocellular ca																																	ENST00000381298.2	0.820000	0.240000	6.500000e-01	3.400000e-01	0.480000	0.506602	0.480000	0.470000				Dom	yes			Dom	yes		5	5q11	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""				E	E			hepatocellular ca		0				26						c.(1561-1563)aAa>aGa		interleukin 6 signal transducer							69.0	60.0	63.0					5																	55247894		2203	4300	6503	SO:0001583	missense	3572	0	0					g.chr5:55247894T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1562A>G	chr5.hg19:g.55247894T>C	ENSP00000370698:p.Lys521Arg	0					IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R	p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	0	0	0	1.967783	P40189	IL6RB_HUMAN		13	1874	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	1	1	hg19	c.1562A>G	CCDS3971.1	0	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757534	0.31137	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53640	0.61;0.61;2.3	5.83	-3.57	0.04612	5.83	-3.57	0.04612	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460210	0.28109	N	0.016572	T	0.25644	0.0624	L	0.28458	0.855	0.52099	D	0.999945	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.002;0.009;0.002	T	0.15521	-1.0434	10	0.10902	T	0.67	.	8.4371	0.32793	0.1046:0.4327:0.0:0.4626	.	521;460;521	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	521;521;460	ENSP00000370698:K521R;ENSP00000338799:K521R;ENSP00000370694:K460R	ENSP00000338799:K521R	K	-	2	0	0	IL6ST	55283651	55283651	0.747000	0.28283	0.976000	0.42696	0.953000	0.61014	-0.512000	0.06313	-0.357000	0.08175	-0.899000	0.02877	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-11.154620	1	0.170000	NM_002184			9	9		212	207	0		1	1		0	0	52	0		9.938914e-01	9.929093e-01	0	2	0	206	0	9	212
IL6ST	3572	broad.mit.edu	37	5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	171	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358			O		hepatocellular ca																																	ENST00000381298.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000				Dom	yes			Dom	yes		5	5q11	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""				E	E			hepatocellular ca		0				26						c.(511-513)gAt>gGt		interleukin 6 signal transducer							85.0	77.0	79.0					5																	55260120		2203	4300	6503	SO:0001583	missense	3572	0	0					g.chr5:55260120T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.512A>G	chr5.hg19:g.55260120T>C	ENSP00000370698:p.Asp171Gly	0					IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G	p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	0	0	0	1.967783	P40189	IL6RB_HUMAN		6	824	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	1	1	hg19	c.512A>G	CCDS3971.1	1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858626	0.51376	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	5.65	5.65	0.86999	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547899	0.20309	N	0.094861	D	0.88599	0.6480	M	0.66939	2.045	0.30165	N	0.801841	D;P;P	0.58970	0.984;0.955;0.907	P;P;P	0.61477	0.889;0.754;0.677	D	0.85066	0.0937	10	0.27082	T	0.32	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	171;171;171	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	G	171	ENSP00000370698:D171G;ENSP00000338799:D171G;ENSP00000370694:D171G;ENSP00000370687:D171G;ENSP00000444456:D171G;ENSP00000435399:D171G	ENSP00000338799:D171G	D	-	2	0	0	IL6ST	55295877	55295877	1.000000	0.71417	0.959000	0.39883	0.079000	0.17450	4.080000	0.57620	2.371000	0.80710	0.533000	0.62120	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.984780	1	0.170000	NM_002184			38	38		180	179	1		1	1		0	0	46	0		1	1	0	19	0	216	0	38	180
IL6ST	3572	broad.mit.edu	37	5	55264223	55264223	+	Splice_Site	SNP	C	C	A	rs200977907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000502326.3_Splice_Site_p.L124F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	124					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368			O		hepatocellular ca																																	ENST00000381298.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000				Dom	yes			Dom	yes		5	5q11	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""				E	E			hepatocellular ca		0				26						c.(370-372)ttG>ttT		interleukin 6 signal transducer							109.0	110.0	110.0					5																	55264223		2202	4300	6502	SO:0001630	splice_region_variant	3572	0	0					g.chr5:55264223C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.371-1G>T	chr5.hg19:g.55264223C>A		0					IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000502326.3_Splice_Site_p.L124F	p.L124F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	0	0	0	1.967783	P40189	IL6RB_HUMAN		5	684	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	1	0	hg19	c.372G>T	CCDS3971.1	1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004958	0.19199	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	0.656	0.17844	5.76	0.656	0.17844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.599517	0.18360	N	0.143601	T	0.11367	0.0277	N	0.21448	0.665	0.80722	D	1	B;B;B	0.20780	0.004;0.048;0.001	B;B;B	0.18871	0.005;0.023;0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	.	5.608	0.17391	0.3904:0.4128:0.0:0.1967	.	124;124;124	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	F	124	ENSP00000370698:L124F;ENSP00000338799:L124F;ENSP00000370694:L124F;ENSP00000370687:L124F;ENSP00000444456:L124F;ENSP00000435399:L124F	ENSP00000338799:L124F	L	-	3	2	2	IL6ST	55299980	55299980	0.975000	0.34042	0.993000	0.49108	0.842000	0.47809	-0.009000	0.12765	-0.102000	0.12197	-0.143000	0.13931	TTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_002184	Missense_Mutation		60	58		376	371	1		1	1		0	0	74	0		1	1	0	11	0	222	0	60	376
ANKRD55	79722	broad.mit.edu	37	5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	518										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)				ACTGAGCAATCTGTCCAGCAG	0.468																																						ENST00000341048.4	0.540000	0.270000	4.700000e-01	3.300000e-01	0.390000	0.406313	0.390000	0.400000																										0				34						c.(1552-1554)aGa>aAa		ankyrin repeat domain 55							145.0	147.0	146.0					5																	55407022		2203	4300	6503	SO:0001583	missense	79722	0	0					g.chr5:55407022C>T	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.1553G>A	chr5.hg19:g.55407022C>T	ENSP00000342295:p.Arg518Lys	0					ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K	p.R518K	NM_024669.2	NP_078945.2	0	0	0	1.967783	Q3KP44	ANR55_HUMAN		10	1704	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	1	1	hg19	c.1553G>A	CCDS34161.1	0	.	.	.	.	.	.	.	.	.	.	.	0.152	-1.090391	0.01873	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36878	1.46;1.23;1.58	5.63	4.77	0.60923	5.63	4.77	0.60923	.	0.201254	0.44285	D	0.000473	T	0.21347	0.0514	N	0.14661	0.345	0.27934	N	0.937774	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.11567	-1.0582	10	0.15952	T	0.53	.	13.1596	0.59537	0.0:0.926:0.0:0.074	.	518;517	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	518;518;475;230	ENSP00000342295:R518K;ENSP00000424230:R475K;ENSP00000429421:R230K	ENSP00000342295:R518K	R	-	2	0	0	ANKRD55	55442779	55442779	0.982000	0.34865	0.896000	0.35187	0.049000	0.14656	2.391000	0.44424	1.527000	0.49086	-0.136000	0.14681	AGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	1	0	1		2	2	2	0		0	0	211		211	210	1	2.060000	-3.320377	1	0.170000	NM_024669			33	32		929	912	0		1	0		0	0	211	0		1	0	0	0	0	1	0	33	929
MAP3K1	4214	broad.mit.edu	37	5	56155658	56155658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	250					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)		GCCGACGCAGTCCTTCTCCTG	0.498																																						ENST00000399503.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999884	0.990000	1.000000																										0				57						c.(748-750)agT>agC		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							44.0	45.0	45.0					5																	56155658		1925	4130	6055	SO:0001819	synonymous_variant	4214	0	0					g.chr5:56155658T>C	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.750T>C	chr5.hg19:g.56155658T>C		0					AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	p.S250S	NM_005921.1	NP_005912.1	0	0	0	1.967783	Q13233	M3K1_HUMAN		3	750	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		Silent	SNP	ENST00000399503.3	1	1	hg19	c.750T>C	CCDS43318.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-15.710370	1	0.170000	XM_042066			27	27		141	140	0		1	1		0	0	30	0		1	9.897217e-01	0	7	0	34	0	27	141
MAP3K1	4214	broad.mit.edu	37	5	56171053	56171053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56171053C>A	ENST00000399503.3	+	10	1881	c.1881C>A	c.(1879-1881)atC>atA	p.I627I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	627					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)		AGACCAGTATCTCAGGAGATG	0.547																																						ENST00000399503.3	0.660000	0.180000	5.200000e-01	2.700000e-01	0.380000	0.402953	0.380000	0.370000																										0				57						c.(1879-1881)atC>atA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							72.0	78.0	76.0					5																	56171053		2060	4226	6286	SO:0001819	synonymous_variant	4214	0	0					g.chr5:56171053C>A	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.1881C>A	chr5.hg19:g.56171053C>A		0						p.I627I	NM_005921.1	NP_005912.1	0	0	0	1.967783	Q13233	M3K1_HUMAN		10	1881	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		Silent	SNP	ENST00000399503.3	0	1	hg19	c.1881C>A	CCDS43318.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-10.215050	1	0.170000	XM_042066			9	8		271	264	0		1	0		0	0	57	0		9.936365e-01	4.177984e-01	0	1	0	39	0	9	271
MAP3K1	4214	broad.mit.edu	37	5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	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)		ACAGAGAACAGTTCCCCTGAG	0.473																																						ENST00000399503.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2698-2700)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							70.0	65.0	66.0					5																	56177726		1922	4134	6056	SO:0001583	missense	4214	0	0					g.chr5:56177726G>T	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.2699G>T	chr5.hg19:g.56177726G>T	ENSP00000382423:p.Ser900Ile	0						p.S900I	NM_005921.1	NP_005912.1	0	0	0	1.967783	Q13233	M3K1_HUMAN		14	2699	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		Missense_Mutation	SNP	ENST00000399503.3	1	1	hg19	c.2699G>T	CCDS43318.1	1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567040	0.03910	.	.	ENSG00000095015	ENST00000399503	T	0.35048	1.33	5.21	1.89	0.25635	5.21	1.89	0.25635	.	1.227700	0.06049	N	0.656229	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.29088	-1.0023	10	0.52906	T	0.07	.	2.8169	0.05458	0.3889:0.236:0.375:0.0	.	900	Q13233	M3K1_HUMAN	I	900	ENSP00000382423:S900I	ENSP00000382423:S900I	S	+	2	0	0	MAP3K1	56213483	56213483	0.987000	0.35691	0.002000	0.10522	0.001000	0.01503	2.621000	0.46418	0.688000	0.31529	-0.126000	0.14955	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	XM_042066			61	60		217	212	1		1	1		0	0	51	0		1	9.999638e-01	0	18	0	39	0	61	217
MAP3K1	4214	broad.mit.edu	37	5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	964					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)		AGACCCCACAGTCAGTGTTTG	0.453																																						ENST00000399503.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2890-2892)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							113.0	111.0	111.0					5																	56177918		1912	4145	6057	SO:0001583	missense	4214	0	0					g.chr5:56177918G>T	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.2891G>T	chr5.hg19:g.56177918G>T	ENSP00000382423:p.Ser964Ile	0						p.S964I	NM_005921.1	NP_005912.1	0	0	0	1.967783	Q13233	M3K1_HUMAN		14	2891	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		Missense_Mutation	SNP	ENST00000399503.3	1	1	hg19	c.2891G>T	CCDS43318.1	1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475157	0.63737	.	.	ENSG00000095015	ENST00000399503	T	0.37235	1.21	5.71	4.84	0.62591	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.54323	1.7	0.54753	D	0.999986	P	0.47409	0.895	P	0.47470	0.548	T	0.43653	-0.9378	10	0.72032	D	0.01	.	14.4987	0.67707	0.0703:0.0:0.9297:0.0	.	964	Q13233	M3K1_HUMAN	I	964	ENSP00000382423:S964I	ENSP00000382423:S964I	S	+	2	0	0	MAP3K1	56213675	56213675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.230000	0.65321	1.421000	0.47157	0.655000	0.94253	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	XM_042066			100	100		342	334	1		1	1		0	0	67	0		1	9.999984e-01	0	17	0	51	0	100	342
MAP3K1	4214	broad.mit.edu	37	5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			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)		CACAGAGATGTCAAAGGTGAG	0.363																																						ENST00000399503.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994163	0.990000	1.000000																										0				57						c.(4108-4110)gTc>gCc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							83.0	75.0	78.0					5																	56181885		1823	4074	5897	SO:0001583	missense	4214	0	0					g.chr5:56181885T>C	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.4109T>C	chr5.hg19:g.56181885T>C	ENSP00000382423:p.Val1370Ala	0						p.V1370A	NM_005921.1	NP_005912.1	0	0	0	1.967783	Q13233	M3K1_HUMAN		17	4109	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		Missense_Mutation	SNP	ENST00000399503.3	1	1	hg19	c.4109T>C	CCDS43318.1	1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680857	0.68042	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.75	5.75	0.90469	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);	0.082046	0.52532	D	0.000071	T	0.44623	0.1302	M	0.93420	3.415	0.47441	D	0.999429	P	0.38280	0.625	B	0.37508	0.252	T	0.58912	-0.7552	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	1370	Q13233	M3K1_HUMAN	A	1370	ENSP00000382423:V1370A	ENSP00000382423:V1370A	V	+	2	0	0	MAP3K1	56217642	56217642	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.654000	0.74387	2.195000	0.70347	0.533000	0.62120	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-16.629260	1	0.170000	XM_042066			49	47		422	411	1		1	1		0	0	59	0		1	9.841940e-01	0	4	0	54	0	49	422
MIER3	166968	broad.mit.edu	37	5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000381199.3	-	10	917	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		TTCTGTATAAGATGAAAATCT	0.303																																						ENST00000381199.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				19						c.(907-909)Ctt>Ttt		mesoderm induction early response 1, family member 3							70.0	71.0	71.0					5																	56224611		2203	4299	6502	SO:0001583	missense	166968	0	0					g.chr5:56224611G>A	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.907C>T	chr5.hg19:g.56224611G>A	ENSP00000370596:p.Leu303Phe	0					MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|CTD-2310F14.1_ENST00000606813.1_RNA	p.L303F			0	0	0	1.967783	Q7Z3K6	MIER3_HUMAN		10	917	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	1	1	hg19	c.907C>T		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569239	0.86439	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	5.64	5.64	0.86602	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.110123	0.64402	D	0.000006	T	0.65144	0.2663	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.67548	0.905;0.952;0.863	T	0.65940	-0.6046	10	0.59425	D	0.04	-10.7073	19.6987	0.96043	0.0:0.0:1.0:0.0	.	303;308;302	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	F	308;302;303;240	ENSP00000370624:L308F;ENSP00000370611:L302F;ENSP00000370596:L303F;ENSP00000386584:L240F	ENSP00000370596:L303F	L	-	1	0	0	MIER3	56260368	56260368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.647000	0.89833	0.467000	0.42956	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-3.360281	1	0.170000	NM_152622			45	44		225	222	1		1	1		0	0	55	0		1	9.938578e-01	0	6	0	36	0	45	225
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	G	A	rs374948712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_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					ENST00000423391.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D25D(1)	large_intestine(1)	28						c.(73-75)gaC>gaT		actin, beta-like 2		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	SO:0001819	synonymous_variant	345651	10	121408	39				g.chr5:56778460G>A		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	chr5.hg19:g.56778460G>A		0					AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	p.D25D	NM_001017992.3	NP_001017992.1	0	0	0	1.967783	Q562R1	ACTBL_HUMAN		1	176	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	1	1	hg19	c.75C>T	CCDS34163.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001017992			36	35		184	179	1		1	1		0	0	41	0		1	1.334828e-01	0	2	0	2	0	36	184
PLK2	10769	broad.mit.edu	37	5	57753328	57753328	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		ACACAGCCCAGGGCCCAAATG	0.368																																						ENST00000274289.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				26						c.(796-798)Ctg>Ttg		polo-like kinase 2							91.0	89.0	90.0					5																	57753328		2203	4300	6503	SO:0001819	synonymous_variant	10769	0	0					g.chr5:57753328G>A		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.796C>T	chr5.hg19:g.57753328G>A		0					PLK2_ENST00000502671.1_5'UTR	p.L266L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	0	0	0	1.967783	Q9NYY3	PLK2_HUMAN		6	1096	-		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)	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	1	1	hg19	c.796C>T	CCDS3974.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-2.895004	1	0.170000	NM_006622			36	34		200	196	1		1	1		0	0	72	0		1	1	0	62	0	124	0	36	200
GAPT	202309	broad.mit.edu	37	5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	51					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448																																						ENST00000396776.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(151-153)aGc>aAc		GRB2-binding adaptor protein, transmembrane							65.0	65.0	65.0					5																	57790515		2203	4300	6503	SO:0001583	missense	202309	0	0					g.chr5:57790515G>A	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.152G>A	chr5.hg19:g.57790515G>A	ENSP00000379997:p.Ser51Asn	0					GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	p.S51N	NM_152687.2	NP_689900.1	0	0	0	1.967783	Q8N292	GAPT_HUMAN		3	614	+				Missense_Mutation	SNP	ENST00000396776.2	1	1	hg19	c.152G>A	CCDS3975.1	1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713986	0.15306	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.82	-0.16	0.13375	4.82	-0.16	0.13375	.	0.655330	0.14962	N	0.288322	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.18304	-1.0341	10	0.56958	D	0.05	-2.826	5.2222	0.15375	0.2925:0.1463:0.5612:0.0	.	51	Q8N292	GAPT_HUMAN	N	51	ENSP00000423113:S51N;ENSP00000379997:S51N;ENSP00000422645:S51N;ENSP00000323075:S51N	ENSP00000323075:S51N	S	+	2	0	0	GAPT	57826272	57826272	0.044000	0.20184	0.107000	0.21349	0.270000	0.26580	0.039000	0.13884	-0.152000	0.11156	0.591000	0.81541	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_152687			49	48		223	221	1		1	0		0	0	49	0		1	8.356598e-01	0	0	0	17	0	49	223
PDE4D	5144	broad.mit.edu	37	5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	448					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGAGTCATAAGATATGTAATT	0.333																																						ENST00000340635.6	1.000000	0.500000	1	6.600000e-01	0.840000	0.832837	0.840000	1.000000																										0				15						c.(1342-1344)Ctt>Att		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)						110.0	112.0	111.0					5																	58285692		1882	4097	5979	SO:0001583	missense	5144	0	0					g.chr5:58285692G>T		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.1342C>A	chr5.hg19:g.58285692G>T	ENSP00000345502:p.Leu448Ile	0					PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I	p.L448I	NM_001104631.1	NP_001098101.1	0	0	0	1.967783	Q08499	PDE4D_HUMAN		10	1517	-		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)	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	1	1	hg19	c.1342C>A	CCDS47213.1	0	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411307	0.62399	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.5	4.63	0.57726	5.5	4.63	0.57726	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.65975	2.015	0.42555	D	0.993127	B;P;P;B;B;P;B;B	0.49783	0.013;0.928;0.897;0.405;0.405;0.897;0.008;0.008	B;D;D;B;B;D;B;B	0.70716	0.059;0.955;0.97;0.34;0.34;0.97;0.031;0.076	T	0.76860	-0.2803	10	0.33940	T	0.23	.	6.4503	0.21900	0.1786:0.1537:0.6677:0.0	.	387;448;384;311;326;318;223;157	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	448;317;312;384;146;157;318;326;387;387;146	ENSP00000345502:L448I;ENSP00000353152:L312I;ENSP00000424852:L384I;ENSP00000351800:L146I;ENSP00000321739:L157I;ENSP00000425605:L318I;ENSP00000384806:L326I;ENSP00000423094:L387I;ENSP00000442734:L387I;ENSP00000421013:L146I	ENSP00000321739:L157I	L	-	1	0	0	PDE4D	58321449	58321449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	1.523000	0.49018	0.655000	0.94253	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-6.695791	1	0.170000				16	16		204	200	0		1	1		0	0	54	0		9.999343e-01	4.528423e-01	0	2	0	18	0	16	204
PDE4D	5144	broad.mit.edu	37	5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	187					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GACTCCCGTCGTTGACTGTGG	0.517																																						ENST00000340635.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(559-561)Cga>Tga		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)						103.0	102.0	103.0					5																	58511691		1910	4125	6035	SO:0001587	stop_gained	5144	0	0					g.chr5:58511691G>A		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.559C>T	chr5.hg19:g.58511691G>A	ENSP00000345502:p.Arg187*	0					PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*	p.R187*	NM_001104631.1	NP_001098101.1	0	0	0	1.967783	Q08499	PDE4D_HUMAN		2	734	-		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)	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	0	1	hg19	c.559C>T	CCDS47213.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.868730	0.99481	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	.	.	.	4.66	3.8	0.43715	4.66	3.8	0.43715	.	0.284954	0.32548	N	0.005949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.142	0.31089	0.0804:0.0:0.7639:0.1557	.	.	.	.	X	187;56;51;123;57;65;126;126;123	.	ENSP00000308485:R123X	R	-	1	2	2	PDE4D	58547448	58547448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	1.090000	0.41315	0.591000	0.81541	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	0	0	1		19	2	2	1		1	1	56		56	56	1	2.060000	-20.000000	1	0.170000				57	57		267	264	1		1	1		1	0	56	0		9.999992e-01	4.290641e-01	0	3	0	5	0	57	267
DEPDC1B	55789	broad.mit.edu	37	5	59940639	59940639	+	Silent	SNP	C	C	T	rs141096982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	214	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16621	0.0		0.0	False		,,,				2504	0.0					ENST00000265036.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				17						c.(640-642)tcG>tcA		DEP domain containing 1B		C	,	8,4398	14.3+/-33.2	0,8,2195	94.0	93.0	93.0		642,642	-0.7	1.0	5	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DEPDC1B	NM_001145208.1,NM_018369.2	,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,	214/468,214/530	59940639	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	55789	17	121406	44				g.chr5:59940639C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.642G>A	chr5.hg19:g.59940639C>T		0					DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	p.S214S	NM_018369.2	NP_060839.2	0	0	0	1.967783	Q8WUY9	DEP1B_HUMAN		5	709	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	1	1	hg19	c.642G>A	CCDS3977.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.324140	1	0.170000	NM_018369			37	35		200	198	1		1	1		0	0	35	0		1	8.579416e-01	0	6	0	15	0	37	200
ELOVL7	79993	broad.mit.edu	37	5	60053435	60053435	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000508821.1	-	8	851	c.537T>C	c.(535-537)gcT>gcC	p.A179A	ELOVL7_ENST00000505959.1_Silent_p.A166A|ELOVL7_ENST00000425382.1_Silent_p.A179A|ELOVL7_ENST00000438340.1_Silent_p.A179A	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	179					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383																																						ENST00000508821.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(535-537)gcT>gcC		ELOVL fatty acid elongase 7							80.0	79.0	79.0					5																	60053435		2203	4300	6503	SO:0001819	synonymous_variant	79993	0	0					g.chr5:60053435A>G	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.537T>C	chr5.hg19:g.60053435A>G		0					ELOVL7_ENST00000505959.1_Silent_p.A166A|ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_Silent_p.A179A	p.A179A	NM_024930.2	NP_079206.2	0	0	0	1.967783	A1L3X0	ELOV7_HUMAN		8	851	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	1	1	hg19	c.537T>C	CCDS34164.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000				58	58		233	231	1		1	1		0	0	72	0		1	9.999936e-01	0	28	0	46	0	58	233
HTR1A	3350	broad.mit.edu	37	5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATTGATTATGGCGCCCAACAG	0.507																																						ENST00000323865.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(1147-1149)gCc>gTc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						158.0	166.0	163.0					5																	63256399		2203	4300	6503	SO:0001583	missense	3350	0	0					g.chr5:63256399G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1148C>T	chr5.hg19:g.63256399G>A	ENSP00000316244:p.Ala383Val	0					RP11-158J3.2_ENST00000502882.1_RNA	p.A383V	NM_000524.3	NP_000515.2	0	0	0	1.967783	P08908	5HT1A_HUMAN		1	1381	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	1	1	hg19	c.1148C>T	CCDS34168.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782245	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.36157	1.27	5.7	5.7	0.88788	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.114707	0.64402	D	0.000018	T	0.45776	0.1359	L	0.43152	1.355	0.51233	D	0.999912	P	0.51537	0.946	P	0.55667	0.781	T	0.31308	-0.9948	10	0.54805	T	0.06	.	13.7557	0.62935	0.0:0.0:0.8465:0.1535	.	383	P08908	5HT1A_HUMAN	V	383	ENSP00000316244:A383V	ENSP00000316244:A383V	A	-	2	0	0	HTR1A	63292155	63292155	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.390000	0.44416	2.692000	0.91855	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	1	0	1		2	2	2	0		0	0	221		221	220	1	2.060000	-20.000000	1	0.170000	NM_000524			209	207		1068	1054	1		1	0		0	0	221	0		1	0	0	0	0	1	0	209	1068
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCTCCCCGACTCTCCATT	0.657																																						ENST00000323865.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S258L(1)	lung(1)	56						c.(772-774)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						58.0	56.0	57.0					5																	63256774		2203	4299	6502	SO:0001583	missense	3350	0	0					g.chr5:63256774G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.773C>T	chr5.hg19:g.63256774G>A	ENSP00000316244:p.Ser258Leu	0					RP11-158J3.2_ENST00000502882.1_RNA	p.S258L	NM_000524.3	NP_000515.2	0	0	0	1.967783	P08908	5HT1A_HUMAN		1	1006	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	1	1	hg19	c.773C>T	CCDS34168.1	1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912302	0.02415	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	2.44	0.29823	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.421461	0.25566	N	0.029793	T	0.42154	0.1190	N	0.25245	0.725	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.26408	T	0.33	.	7.3854	0.26880	0.1445:0.0:0.72:0.1355	.	258	P08908	5HT1A_HUMAN	L	258	ENSP00000316244:S258L	ENSP00000316244:S258L	S	-	2	0	0	HTR1A	63292530	63292530	0.553000	0.26513	0.001000	0.08648	0.010000	0.07245	2.917000	0.48821	0.349000	0.23975	0.655000	0.94253	TCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	1	0	1		2	2	2	0		0	0	124		124	116	1	2.060000	-2.100776	0	0.170000	NM_000524			108	106		469	458	1		1			0	0	124	0		1	0	0	0	0	0	0	108	469
CWC27	10283	broad.mit.edu	37	5	64081400	64081400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000381070.3	+	5	706	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000508024.1_Silent_p.S163S	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343																																						ENST00000381070.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(487-489)agC>agT		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							130.0	120.0	123.0					5																	64081400		2203	4300	6503	SO:0001819	synonymous_variant	10283	0	0					g.chr5:64081400C>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.489C>T	chr5.hg19:g.64081400C>T		0					CWC27_ENST00000508024.1_Silent_p.S163S	p.S163S	NM_005869.2	NP_005860.2	0	0	0	1.967783	Q6UX04	CWC27_HUMAN		5	706	+			O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	1	1	hg19	c.489C>T	CCDS3982.2	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	0	0	1		2	5	2	1		1	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_005869			81	77		343	338	1		1	1		1	0	79	0		1	9.966410e-01	0	14	0	53	0	81	343
CWC27	10283	broad.mit.edu	37	5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000381070.3	+	7	848	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000508024.1_Missense_Mutation_p.A211T	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	211					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308																																						ENST00000381070.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				21						c.(631-633)Gct>Act		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							103.0	105.0	104.0					5																	64084809		2203	4300	6503	SO:0001583	missense	10283	1	121408	28				g.chr5:64084809G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.631G>A	chr5.hg19:g.64084809G>A	ENSP00000370460:p.Ala211Thr	0					CWC27_ENST00000508024.1_Missense_Mutation_p.A211T	p.A211T	NM_005869.2	NP_005860.2	0	0	0	1.967783	Q6UX04	CWC27_HUMAN		7	848	+			O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	1	1	hg19	c.631G>A	CCDS3982.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.336438	0.95758	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26660	1.72;1.76	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.973;0.998;0.996	T	0.52503	-0.8567	10	0.51188	T	0.08	.	18.3774	0.90440	0.0:0.0:1.0:0.0	.	211;211;211;211	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	T	211	ENSP00000370460:A211T;ENSP00000426802:A211T	ENSP00000370460:A211T	A	+	1	0	0	CWC27	64120565	64120565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	2.736000	0.93811	0.591000	0.81541	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_005869			44	43		258	252	1		1	1		0	0	59	0		1	9.999914e-01	0	29	0	76	0	44	258
ADAMTS6	11174	broad.mit.edu	37	5	64766794	64766794	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	91						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GCTTGCCATAGGCTGAAAGTT	0.393																																						ENST00000536360.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(271-273)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							115.0	115.0	115.0					5																	64766794		2203	4300	6503	SO:0001819	synonymous_variant	11174	0	0					g.chr5:64766794G>T	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.273C>A	chr5.hg19:g.64766794G>T		0						p.A91A			0	0	0	1.967783	Q9UKP5	ATS6_HUMAN		3	1086	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	1	1	hg19	c.273C>A		1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.211690	1	0.170000	NM_197941			80	78		329	328	1		1	0		0	0	83	0		1	1.019083e-01	0	1	0	2	0	80	329
PPWD1	23398	broad.mit.edu	37	5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	92					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)			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)		CATAGAGATGTTATCACCCAT	0.328																																						ENST00000261308.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(274-276)gTt>gGt		peptidylprolyl isomerase domain and WD repeat containing 1							111.0	112.0	112.0					5																	64863418		2203	4300	6503	SO:0001583	missense	23398	0	0					g.chr5:64863418T>G	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.275T>G	chr5.hg19:g.64863418T>G	ENSP00000261308:p.Val92Gly	0					PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	p.V92G	NM_015342.3	NP_056157.1	0	0	0	1.967783	Q96BP3	PPWD1_HUMAN		2	347	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	1	1	hg19	c.275T>G	CCDS3985.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227554	0.79576	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000505380	T;T;T	0.62364	0.03;0.03;0.31	5.62	5.62	0.85841	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054812	0.64402	D	0.000001	T	0.80449	0.4625	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.66716	0.878;0.946	T	0.81138	-0.1069	10	0.33940	T	0.23	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	62;92	F5H7P7;Q96BP3	.;PPWD1_HUMAN	G	92;62;11	ENSP00000261308:V92G;ENSP00000442371:V62G;ENSP00000423234:V11G	ENSP00000261308:V92G	V	+	2	0	0	PPWD1	64899174	64899174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	2.151000	0.67156	0.533000	0.62120	GTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_015342			45	43		206	203	1		1	1		0	0	36	0		1	9.999179e-01	0	14	0	54	0	45	206
NLN	57486	broad.mit.edu	37	5	65084251	65084251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65084251C>A	ENST00000380985.5	+	8	1443	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	NLN_ENST00000502464.1_Missense_Mutation_p.T318N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	422						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			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)		ACACTTTATACTGTGAAGGAT	0.433																																						ENST00000380985.5	0.330000	0.150000	2.900000e-01	1.900000e-01	0.230000	0.243452	0.230000	0.240000																										0				26						c.(1264-1266)aCt>aAt		neurolysin (metallopeptidase M3 family)							188.0	188.0	188.0					5																	65084251		2203	4300	6503	SO:0001583	missense	57486	0	0					g.chr5:65084251C>A	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.1265C>A	chr5.hg19:g.65084251C>A	ENSP00000370372:p.Thr422Asn	0					NLN_ENST00000502464.1_Missense_Mutation_p.T318N	p.T422N	NM_020726.4	NP_065777.1	0	0	0	1.967783	Q9BYT8	NEUL_HUMAN		8	1443	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	1	1	hg19	c.1265C>A	CCDS3989.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865090|2.865090	0.51482|0.51482	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.10573|.	2.86;2.86;2.86|.	6.07|6.07	4.25|4.25	0.50352|0.50352	6.07|6.07	4.25|4.25	0.50352|0.50352	Metallopeptidase, catalytic domain (1);|.	0.227351|.	0.46758|.	N|.	0.000270|.	T|.	0.33673|.	0.0871|.	N|N	0.04820|0.04820	-0.15|-0.15	0.46185|0.46185	D|D	0.998912|0.998912	B;B;B|.	0.21753|.	0.06;0.002;0.026|.	B;B;B|.	0.23150|.	0.042;0.017;0.044|.	T|.	0.15321|.	-1.0441|.	10|.	0.37606|.	T|.	0.19|.	-9.5094|-9.5094	11.6743|11.6743	0.51422|0.51422	0.1232:0.8122:0.0:0.0646|0.1232:0.8122:0.0:0.0646	.|.	117;422;422|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|X	422;318;422;150|18	ENSP00000370372:T422N;ENSP00000423214:T318N;ENSP00000427417:T150N|.	ENSP00000339283:T422N|.	T|Y	+|+	2|3	0|2	0|2	NLN|NLN	65120007|65120007	65120007|65120007	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.769000|3.769000	0.55303|0.55303	1.535000|1.535000	0.49220|0.49220	0.655000|0.655000	0.94253|0.94253	ACT|TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1	0	0	1		2	2	2	0		0	0	243		243	241	1	2.060000	-2.753319	1	0.170000				27	27		1298	1261	0		1	0		0	0	243	0		9.999999e-01	3.523451e-01	0	1	0	58	0	27	1298
ERBB2IP	55914	broad.mit.edu	37	5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000284037.5	+	14	1532	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	381					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAGATTAAAGAATTTACCCT	0.303																																						ENST00000284037.5	1.000000	0.750000	1	9.600000e-01	0.990000	0.977102	0.990000	1.000000																										0				36						c.(1141-1143)aaG>aaT		erbb2 interacting protein							64.0	65.0	65.0					5																	65324108		2202	4299	6501	SO:0001583	missense	55914	0	0					g.chr5:65324108G>T		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.1143G>T	chr5.hg19:g.65324108G>T	ENSP00000284037:p.Lys381Asn	0					ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N	p.K381N	NM_001253697.1	NP_001240626.1	0	0	0	1.967783	Q96RT1	LAP2_HUMAN		14	1532	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	1	1	hg19	c.1143G>T	CCDS58953.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119212	0.56505	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;2.32;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.65	3.78	0.43462	5.65	3.78	0.43462	.	0.134464	0.64402	D	0.000002	T	0.60117	0.2244	N	0.20357	0.565	0.44890	D	0.997901	P;P;P;P;D;D;P;D	0.89917	0.624;0.915;0.627;0.931;1.0;0.991;0.593;1.0	B;P;B;P;D;P;B;D	0.91635	0.42;0.763;0.348;0.848;0.999;0.864;0.295;0.997	T	0.62025	-0.6941	10	0.72032	D	0.01	.	10.39	0.44162	0.221:0.0:0.779:0.0	.	381;381;381;381;381;381;381;381	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	381	ENSP00000284037:K381N;ENSP00000370330:K381N;ENSP00000397833:K381N;ENSP00000370326:K381N;ENSP00000370323:K381N;ENSP00000370322:K381N;ENSP00000370325:K381N;ENSP00000422766:K381N;ENSP00000426632:K381N;ENSP00000422015:K381N	ENSP00000284037:K381N	K	+	3	2	2	ERBB2IP	65359864	65359864	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	0.662000	0.31006	-0.244000	0.11960	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-3.222377	1	0.170000	NM_018695			17	17		142	141	1		1	1		0	0	28	0		9.999729e-01	9.976326e-01	0	10	0	76	0	17	142
ERBB2IP	55914	broad.mit.edu	37	5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000284037.5	+	21	3867	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1160					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTCAGTTAGTGATTTCAA	0.403																																						ENST00000284037.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(3478-3480)Agt>Cgt		erbb2 interacting protein							63.0	60.0	61.0					5																	65350624		2203	4300	6503	SO:0001583	missense	55914	0	0					g.chr5:65350624A>C		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.3478A>C	chr5.hg19:g.65350624A>C	ENSP00000284037:p.Ser1160Arg	0					ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R	p.S1160R	NM_001253697.1	NP_001240626.1	0	0	0	1.967783	Q96RT1	LAP2_HUMAN		21	3867	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	1	1	hg19	c.3478A>C	CCDS58953.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.82|16.82	3.227621|3.227621	0.58668|0.58668	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.91;0.9;0.91;0.97;0.55;0.88;0.89;0.8;0.55|.	5.57|5.57	3.18|3.18	0.36537|0.36537	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	0.229431|.	0.51477|.	D|.	0.000089|.	T|.	0.54743|.	0.1877|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D|.	0.69078|.	0.997;0.987;0.977;0.96;0.966;0.997;0.987|.	D;P;P;P;P;D;P|.	0.69479|.	0.964;0.878;0.905;0.762;0.641;0.964;0.88|.	T|.	0.48163|.	-0.9059|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0592|8.0592	0.30623|0.30623	0.7924:0.1371:0.0705:0.0|0.7924:0.1371:0.0705:0.0	.|.	1160;1160;1160;1156;1160;1160;1160|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	R|S	1160;1160;1160;1160;1160;1160;1156;1160;1160|55	ENSP00000284037:S1160R;ENSP00000370330:S1160R;ENSP00000370326:S1160R;ENSP00000370323:S1160R;ENSP00000370322:S1160R;ENSP00000370325:S1160R;ENSP00000422766:S1156R;ENSP00000426632:S1160R;ENSP00000422015:S1160R|.	ENSP00000284037:S1160R|.	S|X	+|+	1|2	0|0	0|0	ERBB2IP|ERBB2IP	65386380|65386380	65386380|65386380	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	AGT|TAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_018695			61	60		227	226	1		1	1		0	0	55	0		1	1	0	34	0	83	0	61	227
ERBB2IP	55914	broad.mit.edu	37	5	65371060	65371060	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAACAAGAGGTAAGAATAATC	0.348																																						ENST00000284037.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.e23+2		erbb2 interacting protein							68.0	69.0	69.0					5																	65371060		2203	4300	6503	SO:0001630	splice_region_variant	55914	0	0					g.chr5:65371060T>C		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.3963+2T>C	chr5.hg19:g.65371060T>C		0					ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron		NM_001253697.1	NP_001240626.1	0	0	0	1.967783	Q96RT1	LAP2_HUMAN		23	4352	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	1	1	hg19		CCDS58953.1	1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405358	0.62288	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030	.	.	.	5.57	4.36	0.52297	5.57	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0104	0.53284	0.1291:0.0:0.0:0.8709	.	.	.	.	.	-1	.	.	.	+	.	.	.	ERBB2IP	65406816	65406816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.113000	0.64589	0.528000	0.53228	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-20.000000	1	0.170000	NM_018695	Intron		91	87		373	363	0		1			0	0	66	0		1	0	0	0	0	0	0	91	373
MAST4	375449	broad.mit.edu	37	5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000403625.2	+	3	840	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V|MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000406039.1_Missense_Mutation_p.A182V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	182						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				13						c.(544-546)gCg>gTg		microtubule associated serine/threonine kinase family member 4							43.0	45.0	44.0					5																	66084525		1880	4108	5988	SO:0001583	missense	375449	0	0					g.chr5:66084525C>T	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.545C>T	chr5.hg19:g.66084525C>T	ENSP00000385727:p.Ala182Val	0					MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V|MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR	p.A182V	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		3	840	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	1	1	hg19	c.545C>T	CCDS54861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513808|4.513808	0.85389|0.85389	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817|ENST00000452953	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;1.47;1.48;0.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.452872|.	0.18800|.	N|.	0.130812|.	T|T	0.39759|0.39759	0.1090|0.1090	L|L	0.27053|0.27053	0.805|0.805	0.22666|0.22666	N|N	0.998873|0.998873	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.56648|.	0.803;0.481|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.66056|.	D|.	0.02|.	.|.	15.9813|15.9813	0.80111|0.80111	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	182;182|.	E7EX28;O15021-4|.	.;.|.	V|W	182;182;182;182;54|55	ENSP00000385048:A182V;ENSP00000385727:A182V;ENSP00000385088:A182V;ENSP00000384547:A182V;ENSP00000413573:A54V|.	ENSP00000385727:A182V|.	A|R	+|+	2|1	0|2	0|2	MAST4|MAST4	66120281|66120281	66120281|66120281	0.494000|0.494000	0.26043|0.26043	0.021000|0.021000	0.16686|0.16686	0.722000|0.722000	0.41435|0.41435	2.684000|2.684000	0.46951|0.46951	2.677000|2.677000	0.91161|0.91161	0.557000|0.557000	0.71058|0.71058	GCG|CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	0		2	2	2	0		0	0	39		39	37	1	2.060000	-3.325996	1	0.170000				43	42		244	237	1		1	1		0	0	39	0		1	1.136764e-01	0	3	0	1	0	43	244
MAST4	375449	broad.mit.edu	37	5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000403625.2	+	3	884	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000406374.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C|MAST4_ENST00000406039.1_Missense_Mutation_p.R197C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	197						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999948	0.990000	1.000000																										0				13						c.(589-591)Cgc>Tgc		microtubule associated serine/threonine kinase family member 4							30.0	31.0	31.0					5																	66084569		1887	4111	5998	SO:0001583	missense	375449	0	0					g.chr5:66084569C>T	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.589C>T	chr5.hg19:g.66084569C>T	ENSP00000385727:p.Arg197Cys	0					MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C	p.R197C	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		3	884	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	1	1	hg19	c.589C>T	CCDS54861.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.553642	0.96501	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.80304	-1.33;-1.36;-0.16;-0.03;-0.42	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89019	0.6596	M	0.62723	1.935	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89396	0.3692	10	0.87932	D	0	.	19.3639	0.94454	0.0:1.0:0.0:0.0	.	197;197	E7EX28;O15021-4	.;.	C	197;197;197;197;69;4	ENSP00000385048:R197C;ENSP00000385727:R197C;ENSP00000385088:R197C;ENSP00000384547:R197C;ENSP00000413573:R69C	ENSP00000385727:R197C	R	+	1	0	0	MAST4	66120325	66120325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.677000	0.91161	0.557000	0.71058	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				34	32		188	186	1		1	0		0	0	28	0		1	2.477876e-02	0	0	0	2	0	34	188
MAST4	375449	broad.mit.edu	37	5	66432472	66432472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	ENST00000403625.2	+	19	2769	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	MAST4_ENST00000403666.1_Missense_Mutation_p.P636L|MAST4_ENST00000404260.3_Missense_Mutation_p.P828L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	828	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGAATCCCCTGGAGAGG	0.458																																						ENST00000403625.2	1.000000	0.750000	1	9.900000e-01	0.990000	0.982468	0.990000	1.000000																										0				13						c.(2473-2475)cCc>cTc		microtubule associated serine/threonine kinase family member 4							47.0	46.0	47.0					5																	66432472		1861	4101	5962	SO:0001583	missense	375449	0	0					g.chr5:66432472C>T	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.2474C>T	chr5.hg19:g.66432472C>T	ENSP00000385727:p.Pro825Leu	0					MAST4_ENST00000403666.1_Missense_Mutation_p.P636L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000404260.3_Missense_Mutation_p.P828L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L	p.P825L	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		19	2769	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	0	1	hg19	c.2474C>T	CCDS54861.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.361532	0.95877	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.81	5.81	0.92471	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.99;0.999;0.997;0.986	T	0.81395	-0.0952	10	0.87932	D	0	-25.2234	20.0784	0.97758	0.0:1.0:0.0:0.0	.	646;828;631;636	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	L	828;825;636;646;646;631;631	ENSP00000385048:P828L;ENSP00000385727:P825L;ENSP00000384313:P636L;ENSP00000384099:P646L;ENSP00000261569:P631L	ENSP00000261569:P631L	P	+	2	0	0	MAST4	66468228	66468228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.736000	0.93811	0.655000	0.94253	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-15.480120	1	0.170000				8	8		47	46	0		1	1		0	0	13	0		9.905174e-01	9.012642e-01	0	13	0	14	0	8	47
MAST4	375449	broad.mit.edu	37	5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000403625.2	+	25	3662	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1126	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(3367-3369)Cga>Tga		microtubule associated serine/threonine kinase family member 4							132.0	131.0	131.0					5																	66448536		1936	4150	6086	SO:0001587	stop_gained	375449	0	0					g.chr5:66448536C>T	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.3367C>T	chr5.hg19:g.66448536C>T	ENSP00000385727:p.Arg1123*	0					MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*	p.R1123*	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		25	3662	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	0	1	hg19	c.3367C>T	CCDS54861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.794146|8.794146	0.98956|0.98956	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	.|.	.|.	.|.	6.17|6.17	3.31|3.31	0.37934|0.37934	6.17|6.17	3.31|3.31	0.37934|0.37934	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69984	.|0.3172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72947	.|-0.4137	.|3	0.02654|.	T|.	1|.	-14.7051|-14.7051	15.8853|15.8853	0.79244|0.79244	0.6069:0.3931:0.0:0.0|0.6069:0.3931:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1126;1123;934;944;944;929;862|179	.|.	ENSP00000261569:R929X|.	R|T	+|+	1|2	2|0	2|0	MAST4|MAST4	66484292|66484292	66484292|66484292	0.660000|0.660000	0.27420|0.27420	0.775000|0.775000	0.31657|0.31657	0.995000|0.995000	0.86356|0.86356	1.386000|1.386000	0.34419|0.34419	0.400000|0.400000	0.25396|0.25396	0.655000|0.655000	0.94253|0.94253	CGA|ACG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0	0	1		2	2	2	0		0	0	131		131	128	1	2.060000	-20.000000	1	0.170000				129	125		634	611	1		1	0		0	0	131	0		1	9.053935e-01	0	0	0	22	0	129	634
MAST4	375449	broad.mit.edu	37	5	66459843	66459843	+	Silent	SNP	C	C	T	rs200132752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	ENST00000403625.2	+	29	5131	c.4836C>T	c.(4834-4836)agC>agT	p.S1612S	MAST4_ENST00000403666.1_Silent_p.S1423S|MAST4_ENST00000404260.3_Silent_p.S1615S|MAST4_ENST00000261569.7_Silent_p.S1418S|MAST4_ENST00000405643.1_Silent_p.S1433S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1615						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGCCAGCGTGCGCGCCA	0.657																																						ENST00000403625.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.996584	0.990000	1.000000																										0				13						c.(4834-4836)agC>agT		microtubule associated serine/threonine kinase family member 4							13.0	14.0	14.0					5																	66459843		1993	4147	6140	SO:0001819	synonymous_variant	375449	12	120242	37				g.chr5:66459843C>T	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.4836C>T	chr5.hg19:g.66459843C>T		0					MAST4_ENST00000403666.1_Silent_p.S1423S|MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000404260.3_Silent_p.S1615S|MAST4_ENST00000261569.7_Silent_p.S1418S	p.S1612S	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	5131	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	0	1	hg19	c.4836C>T	CCDS54861.1	1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058585	0.08339	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.95	-0.0499	0.13833	4.95	-0.0499	0.13833	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	-8.4791	9.1415	0.36906	0.0:0.5281:0.0:0.4719	.	.	.	.	C	669	.	.	R	+	1	0	0	MAST4	66495599	66495599	0.001000	0.12720	0.036000	0.18154	0.503000	0.33858	-0.134000	0.10436	-0.224000	0.09928	0.561000	0.74099	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.996380	1	0.170000				12	10		60	56	1		1	0		0	0	11	0		9.989650e-01	7.968346e-01	0	1	0	16	0	12	60
MAST4	375449	broad.mit.edu	37	5	66460375	66460375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000403625.2	+	29	5663	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_ENST00000403666.1_Silent_p.L1601L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000261569.7_Silent_p.L1596L|MAST4_ENST00000405643.1_Silent_p.L1611L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1793						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(5368-5370)Ctg>Ttg		microtubule associated serine/threonine kinase family member 4							96.0	101.0	99.0					5																	66460375		1911	4132	6043	SO:0001819	synonymous_variant	375449	0	0					g.chr5:66460375C>T	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.5368C>T	chr5.hg19:g.66460375C>T		0					MAST4_ENST00000403666.1_Silent_p.L1601L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000261569.7_Silent_p.L1596L	p.L1790L	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	5663	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	1	1	hg19	c.5368C>T	CCDS54861.1	1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927128	0.18056	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.48	0.39840	5.24	3.48	0.39840	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-14.6127	11.4824	0.50333	0.0:0.8561:0.0:0.1439	.	.	.	.	V	846	.	.	A	+	2	0	0	MAST4	66496131	66496131	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.782000	0.47758	0.785000	0.33685	-0.136000	0.14681	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				87	86		431	421	1		1	1		0	0	75	0		1	9.803186e-01	0	11	0	22	0	87	431
MAST4	375449	broad.mit.edu	37	5	66461256	66461256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000403625.2	+	29	6544	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_ENST00000403666.1_Silent_p.P1894P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000261569.7_Silent_p.P1889P|MAST4_ENST00000405643.1_Silent_p.P1904P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2086						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(6247-6249)ccC>ccT		microtubule associated serine/threonine kinase family member 4							44.0	52.0	49.0					5																	66461256		1983	4147	6130	SO:0001819	synonymous_variant	375449	1	120918	32				g.chr5:66461256C>T	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.6249C>T	chr5.hg19:g.66461256C>T		0					MAST4_ENST00000403666.1_Silent_p.P1894P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000261569.7_Silent_p.P1889P	p.P2083P	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	6544	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	1	1	hg19	c.6249C>T	CCDS54861.1	1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.160941	0.09287	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.6	-9.2	0.00682	4.6	-9.2	0.00682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0454	7.8471	0.29431	0.0:0.2763:0.3432:0.3804	.	.	.	.	X	1140	.	.	R	+	1	2	2	MAST4	66497012	66497012	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.217000	0.00553	-1.397000	0.02068	-1.000000	0.02509	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.929387	1	0.170000				60	60		256	252	1		1	1		0	0	56	0		1	9.913866e-01	0	2	0	32	0	60	256
MAST4	375449	broad.mit.edu	37	5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000403625.2	+	29	6923	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2213	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647																																						ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998796	0.990000	1.000000																										0				13						c.(6628-6630)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							13.0	17.0	16.0					5																	66461635		1858	4102	5960	SO:0001583	missense	375449	1	120724	23				g.chr5:66461635C>T	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.6628C>T	chr5.hg19:g.66461635C>T	ENSP00000385727:p.Arg2210Trp	0					MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W	p.R2210W	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	6923	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	1	1	hg19	c.6628C>T	CCDS54861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.813212|1.813212	0.32053|0.32053	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.71222	.|-0.53;-0.53;-0.55;-0.55;-0.53	4.86|4.86	1.07|1.07	0.20283|0.20283	4.86|4.86	1.07|1.07	0.20283|0.20283	.|.	.|0.211736	.|0.32901	.|N	.|0.005507	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;P	.|0.59546	.|0.803;0.859	T|T	0.65557|0.65557	-0.6139|-0.6139	5|10	.|0.72032	.|D	.|0.01	-14.3162|-14.3162	11.8586|11.8586	0.52453|0.52453	0.5134:0.4866:0.0:0.0|0.5134:0.4866:0.0:0.0	.|.	.|2213;2021	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|W	1266|2213;2210;2021;2031;2031;2016	.|ENSP00000385048:R2213W;ENSP00000385727:R2210W;ENSP00000384313:R2021W;ENSP00000384099:R2031W;ENSP00000261569:R2016W	.|ENSP00000261569:R2016W	P|R	+|+	2|1	0|2	0|2	MAST4|MAST4	66497391|66497391	66497391|66497391	0.096000|0.096000	0.21769|0.21769	0.586000|0.586000	0.28679|0.28679	0.010000|0.010000	0.07245|0.07245	0.580000|0.580000	0.23803|0.23803	0.034000|0.034000	0.15491|0.15491	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000				18	18		98	98	0		1	1		0	0	24	0		9.999894e-01	8.686506e-01	0	9	0	13	0	18	98
MAST4	375449	broad.mit.edu	37	5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T	rs371350803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000403625.2	+	29	7223	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2313						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403625.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				13						c.(6928-6930)Cca>Tca		microtubule associated serine/threonine kinase family member 4							22.0	28.0	26.0					5																	66461935		1943	4128	6071	SO:0001583	missense	375449	0	0					g.chr5:66461935C>T	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.6928C>T	chr5.hg19:g.66461935C>T	ENSP00000385727:p.Pro2310Ser	0		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S	p.P2310S	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	7223	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	1	1	hg19	c.6928C>T	CCDS54861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318213|1.318213	0.23994|0.23994	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64991	.|-0.1;-0.1;-0.13;-0.12;-0.1	4.62|4.62	2.66|2.66	0.31614|0.31614	4.62|4.62	2.66|2.66	0.31614|0.31614	.|.	0.910882|0.910882	0.09254|0.09254	N|N	0.827460|0.827460	T|T	0.41166|0.41166	0.1147|0.1147	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25272	.|0.075;0.122	.|B;B	.|0.25291	.|0.027;0.059	T|T	0.29671|0.29671	-1.0004|-1.0004	6|10	.|0.15066	.|T	.|0.55	0.1795|0.1795	2.4979|2.4979	0.04626|0.04626	0.2633:0.4739:0.1624:0.1004|0.2633:0.4739:0.1624:0.1004	.|.	.|2313;2121	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|S	1366|2313;2310;2121;2131;2131;2116	.|ENSP00000385048:P2313S;ENSP00000385727:P2310S;ENSP00000384313:P2121S;ENSP00000384099:P2131S;ENSP00000261569:P2116S	.|ENSP00000261569:P2116S	P|P	+|+	2|1	0|0	0|0	MAST4|MAST4	66497691|66497691	66497691|66497691	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.026000|0.026000	0.11368|0.11368	0.269000|0.269000	0.18589|0.18589	1.159000|1.159000	0.42565|0.42565	0.561000|0.561000	0.74099|0.74099	CCC|CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000				20	20		58	56	0		1	1		0	0	16	0		9.999980e-01	9.972844e-01	0	5	0	27	0	20	58
MAST4	375449	broad.mit.edu	37	5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000403625.2	+	29	8120	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592																																						ENST00000403625.2	1.000000	0.610000	1	8.300000e-01	0.990000	0.941335	0.990000	1.000000																										0				13						c.(7825-7827)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							18.0	19.0	19.0					5																	66462832		1911	4098	6009	SO:0001583	missense	375449	0	0					g.chr5:66462832C>T	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.7825C>T	chr5.hg19:g.66462832C>T	ENSP00000385727:p.Arg2609Trp	0					MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W	p.R2609W	NM_001164664.1	NP_001158136.1	0	0	0	1.967783	O15021	MAST4_HUMAN		29	8120	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	1	1	hg19	c.7825C>T	CCDS54861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335850|4.335850	0.81801|0.81801	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.74632	.|-0.85;-0.85;-0.86;-0.86;-0.83	5.49|5.49	3.53|3.53	0.40419|0.40419	5.49|5.49	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.48286	.|D	.|0.000196	T|T	0.77870|0.77870	0.4195|0.4195	L|L	0.34521|0.34521	1.04|1.04	0.32490|0.32490	N|N	0.540319|0.540319	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.981;0.984	T|T	0.82303|0.82303	-0.0524|-0.0524	5|10	.|0.87932	.|D	.|0	-19.1121|-19.1121	11.8895|11.8895	0.52620|0.52620	0.1412:0.7306:0.1282:0.0|0.1412:0.7306:0.1282:0.0	.|.	.|2612;2420	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|W	1665|2612;2609;2420;2430;2430;2415	.|ENSP00000385048:R2612W;ENSP00000385727:R2609W;ENSP00000384313:R2420W;ENSP00000384099:R2430W;ENSP00000261569:R2415W	.|ENSP00000261569:R2415W	A|R	+|+	2|1	0|2	0|2	MAST4|MAST4	66498588|66498588	66498588|66498588	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.195000|1.195000	0.32186|0.32186	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GCG|CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-2.489768	0	0.170000				12	12		113	107	1		1	1		0	0	31	0		9.990164e-01	5.758407e-01	0	6	0	13	0	12	113
PIK3R1	5295	broad.mit.edu	37	5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	194	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.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)	CCTGGACTTACCAAATCCTGT	0.413			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		5	5q13.1	5q13.1	5295	Mis, F, O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""				"""E, O"""	E, O			gliobastoma, ovarian, colorectal		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	178						c.(580-582)Cca>Tca		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoprenaline(DB01064)						157.0	144.0	149.0					5																	67575507		2203	4300	6503	SO:0001583	missense	5295	0	0					g.chr5:67575507C>T	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.580C>T	chr5.hg19:g.67575507C>T	ENSP00000428056:p.Pro194Ser	0	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S	p.P194S	NM_181523.2	NP_852664.1	0	0	0	1.967783	P27986	P85A_HUMAN		5	1196	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	1	1	hg19	c.580C>T	CCDS3993.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883408	0.91740	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.51	5.51	0.81932	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.68317	2.08	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.64820	-0.6317	10	0.66056	D	0.02	-12.4678	19.6101	0.95602	0.0:1.0:0.0:0.0	.	194	P27986	P85A_HUMAN	S	194;194;194;194;96	ENSP00000428056:P194S;ENSP00000429277:P194S;ENSP00000379855:P194S;ENSP00000274335:P194S;ENSP00000428566:P96S	ENSP00000274335:P194S	P	+	1	0	0	PIK3R1	67611263	67611263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.868000	0.98415	0.557000	0.71058	CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_181504			104	102		456	451	1		1	1		0	0	85	0		1	1	0	25	0	167	0	104	456
MRPS36	92259	broad.mit.edu	37	5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	41					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338																																						ENST00000256441.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				7						c.(121-123)aGa>aTa		mitochondrial ribosomal protein S36							50.0	53.0	52.0					5																	68524042		2203	4300	6503	SO:0001583	missense	92259	0	0					g.chr5:68524042G>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.122G>T	chr5.hg19:g.68524042G>T	ENSP00000256441:p.Arg41Ile	0					MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.R41I	NM_033281.5	NP_150597.1	0	0	0	1.967783	P82909	RT36_HUMAN		3	192	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	1	1	hg19	c.122G>T	CCDS34174.1	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927759	0.52759	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.49	4.43	0.53597	5.49	4.43	0.53597	.	0.250556	0.36854	N	0.002374	T	0.42607	0.1210	L	0.29908	0.895	0.53688	D	0.999973	P	0.36249	0.545	B	0.41988	0.372	T	0.42327	-0.9458	9	0.62326	D	0.03	-2.6775	7.3681	0.26785	0.2318:0.0:0.7682:0.0	.	41	P82909	RT36_HUMAN	I	41	.	ENSP00000256441:R41I	R	+	2	0	0	MRPS36	68559798	68559798	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.502000	0.45398	2.575000	0.86900	0.460000	0.39030	AGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	1	0	0		2	2	2	0		0	0	36		36	35	1	2.060000	-20.000000	1	0.170000	NM_033281			43	43		231	227	1		1	1		0	0	36	0		1	1	0	138	0	332	0	43	231
MRPS36	92259	broad.mit.edu	37	5	68524106	68524106	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	62					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353																																						ENST00000256441.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(184-186)ccA>ccG		mitochondrial ribosomal protein S36							86.0	92.0	90.0					5																	68524106		2203	4300	6503	SO:0001819	synonymous_variant	92259	0	0					g.chr5:68524106A>G		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.186A>G	chr5.hg19:g.68524106A>G		0					MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.P62P	NM_033281.5	NP_150597.1	0	0	0	1.967783	P82909	RT36_HUMAN		3	256	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	Q9H2H4	Silent	SNP	ENST00000256441.4	1	1	hg19	c.186A>G	CCDS34174.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	0	0	0		19	20	2	1		1	1	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_033281			84	85		352	346	1		1	1		1	0	74	0		1	1	0	148	0	306	0	84	352
CDK7	1022	broad.mit.edu	37	5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000256443.3	+	11	1061	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	CDK7_ENST00000502604.1_Nonsense_Mutation_p.Q227*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	320					7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|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 transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|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)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388								Nucleotide excision repair (NER)																														ENST00000256443.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				3						c.(958-960)Caa>Taa	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							70.0	72.0	71.0					5																	68572463		2203	4300	6503	SO:0001587	stop_gained	1022	0	0					g.chr5:68572463C>T		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.958C>T	chr5.hg19:g.68572463C>T	ENSP00000256443:p.Gln320*	0					CDK7_ENST00000502604.1_Nonsense_Mutation_p.Q227*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	p.Q320*	NM_001799.3	NP_001790.1	0	0	0	1.967783	P50613	CDK7_HUMAN		11	1061	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	Q9BS60|Q9UE19	Nonsense_Mutation	SNP	ENST00000256443.3	0	1	hg19	c.958C>T	CCDS3999.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.216077	0.95104	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	.	.	.	5.3	4.42	0.53409	5.3	4.42	0.53409	.	0.303860	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.6503	0.56757	0.0:0.9178:0.0:0.0822	.	.	.	.	X	320;283;227	.	ENSP00000256443:Q320X	Q	+	1	0	0	CDK7	68608219	68608219	0.942000	0.31987	0.776000	0.31678	0.294000	0.27393	2.565000	0.45939	2.636000	0.89361	0.655000	0.94253	CAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-19.999980	1	0.170000	NM_001799			48	47		252	248	1		1	1		0	0	63	0		1	1	0	22	0	176	0	48	252
BDP1	55814	broad.mit.edu	37	5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	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	495					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)			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)		AAGGAGAAAAACACAAGAGTA	0.348																																						ENST00000358731.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(1483-1485)aaA>aaC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							55.0	54.0	54.0					5																	70785502		1829	4072	5901	SO:0001583	missense	55814	0	0					g.chr5:70785502A>C	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.1485A>C	chr5.hg19:g.70785502A>C	ENSP00000351575:p.Lys495Asn	0					BDP1_ENST00000380675.2_5'UTR	p.K495N	NM_018429.2	NP_060899.2	1	2	3	2.006602	A6H8Y1	BDP1_HUMAN		10	1748	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	1	1	hg19	c.1485A>C	CCDS43328.1	1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240903	0.39598	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41758	0.99	5.26	-1.7	0.08159	5.26	-1.7	0.08159	.	0.086814	0.49305	D	0.000147	T	0.43897	0.1268	L	0.54323	1.7	0.35443	D	0.795076	B;D;D	0.69078	0.09;0.997;0.996	B;P;P	0.62184	0.027;0.899;0.866	T	0.51513	-0.8696	10	0.23891	T	0.37	.	4.4018	0.11390	0.3442:0.3507:0.3052:0.0	.	495;495;495	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	495;495;75;495	ENSP00000351575:K495N	ENSP00000351575:K495N	K	+	3	2	2	BDP1	70821258	70821258	0.015000	0.18098	0.323000	0.25347	0.328000	0.28507	-0.222000	0.09190	0.032000	0.15435	0.379000	0.24179	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_018429			54	53		284	277	1		1	1		0	0	75	0		1	9.304696e-01	0	6	0	20	0	54	284
BDP1	55814	broad.mit.edu	37	5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	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	615					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)			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)		GTTGAGAGGTCGCTTCCAAAG	0.358																																						ENST00000358731.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(1843-1845)Cgc>Tgc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							86.0	81.0	83.0					5																	70793140		1829	4084	5913	SO:0001583	missense	55814	1	120804	29				g.chr5:70793140C>T	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.1843C>T	chr5.hg19:g.70793140C>T	ENSP00000351575:p.Arg615Cys	0					BDP1_ENST00000380675.2_5'UTR	p.R615C	NM_018429.2	NP_060899.2	1	2	3	2.006602	A6H8Y1	BDP1_HUMAN		13	2106	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	1	1	hg19	c.1843C>T	CCDS43328.1	1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517347	0.13005	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.11385	2.78	5.05	4.18	0.49190	5.05	4.18	0.49190	.	0.695259	0.14689	N	0.304260	T	0.12433	0.0302	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.015;0.009	B;B;B	0.15052	0.012;0.006;0.009	T	0.02844	-1.1103	10	0.51188	T	0.08	.	10.0523	0.42223	0.0:0.9053:0.0:0.0947	.	615;615;615	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	615;615;195;615	ENSP00000351575:R615C	ENSP00000351575:R615C	R	+	1	0	0	BDP1	70828896	70828896	0.997000	0.39634	0.928000	0.36995	0.031000	0.12232	2.288000	0.43514	1.270000	0.44297	-0.189000	0.12847	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.316272	1	0.170000	NM_018429			71	68		303	298	1		1	1		0	0	58	0		1	9.466753e-01	0	8	0	15	0	71	303
BDP1	55814	broad.mit.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	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	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		ACCAGAGGTGATTGATGCTAC	0.463																																						ENST00000358731.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3085-3087)Att>Gtt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							74.0	75.0	75.0					5																	70806004		1848	4090	5938	SO:0001583	missense	55814	3	120804	36				g.chr5:70806004A>G	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.3085A>G	chr5.hg19:g.70806004A>G	ENSP00000351575:p.Ile1029Val	0					BDP1_ENST00000380675.2_5'UTR	p.I1029V	NM_018429.2	NP_060899.2	1	2	3	2.006602	A6H8Y1	BDP1_HUMAN		17	3348	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	1	1	hg19	c.3085A>G	CCDS43328.1	1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	0	BDP1	70841760	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_018429			95	93		421	415	1		1	1		0	0	120	0		1	9.964517e-01	0	12	0	26	0	95	421
MCCC2	64087	broad.mit.edu	37	5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	361	Acyl-CoA binding. {ECO:0000255}.|Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338																																						ENST00000340941.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1081-1083)Cga>Tga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						150.0	161.0	157.0					5																	70939654		2203	4300	6503	SO:0001587	stop_gained	64087	1	121412	30				g.chr5:70939654C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1081C>T	chr5.hg19:g.70939654C>T	ENSP00000343657:p.Arg361*	0					MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	p.R361*	NM_022132.4	NP_071415.1	1	2	3	2.006602	Q9HCC0	MCCB_HUMAN		12	1210	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	A6NIY9|Q96C27|Q9Y4L7	Nonsense_Mutation	SNP	ENST00000340941.6	0	1	hg19	c.1081C>T	CCDS34184.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.686458	0.96784	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.65	4.61	0.57282	5.65	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4798	11.3076	0.49345	0.5398:0.4602:0.0:0.0	.	.	.	.	X	361;323;133	.	ENSP00000327308:R323X	R	+	1	2	2	MCCC2	70975410	70975410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.808000	0.47963	1.163000	0.42636	0.650000	0.86243	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-3.350723	1	0.170000				112	110		523	517	1		1	1		0	0	127	0		1	9.999999e-01	0	4	0	103	0	112	523
MCCC2	64087	broad.mit.edu	37	5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	503	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443																																						ENST00000340941.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999263	0.990000	1.000000																										0				30						c.(1507-1509)gCg>gTg		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						58.0	57.0	57.0					5																	70948515		2203	4300	6503	SO:0001583	missense	64087	2	121412	34				g.chr5:70948515C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1508C>T	chr5.hg19:g.70948515C>T	ENSP00000343657:p.Ala503Val	0					MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	p.A503V	NM_022132.4	NP_071415.1	1	2	3	2.006602	Q9HCC0	MCCB_HUMAN		16	1637	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	1	1	hg19	c.1508C>T	CCDS34184.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123269	0.56613	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-3.26;-3.26;-4.5	5.44	5.44	0.79542	5.44	5.44	0.79542	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.107337	0.64402	D	0.000007	D	0.95968	0.8687	M	0.68317	2.08	0.58432	D	0.999997	B	0.31413	0.322	B	0.19391	0.025	D	0.94985	0.8129	10	0.62326	D	0.03	-14.0895	13.6461	0.62281	0.1555:0.8445:0.0:0.0	.	503	Q9HCC0	MCCB_HUMAN	V	503;465;275	ENSP00000343657:A503V;ENSP00000327308:A465V;ENSP00000425474:A275V	ENSP00000327308:A465V	A	+	2	0	0	MCCC2	70984271	70984271	0.999000	0.42202	0.978000	0.43139	0.977000	0.68977	3.682000	0.54656	2.556000	0.86216	0.491000	0.48974	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-13.079660	1	0.170000				24	23		152	150	1		1	1		0	0	41	0		9.999998e-01	9.999996e-01	0	96	0	71	0	24	152
CARTPT	9607	broad.mit.edu	37	5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	59					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537																																						ENST00000296777.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(175-177)Gaa>Aaa		CART prepropeptide	Amphetamine(DB00182)						144.0	130.0	135.0					5																	71015722		2203	4300	6503	SO:0001583	missense	9607	0	0					g.chr5:71015722G>A	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.175G>A	chr5.hg19:g.71015722G>A	ENSP00000296777:p.Glu59Lys	0					CARTPT_ENST00000513096.1_3'UTR	p.E59K	NM_004291.3	NP_004282.1	1	2	3	2.006602	Q16568	CART_HUMAN		2	306	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	1	1	hg19	c.175G>A	CCDS4011.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.168013	0.94768	.	.	ENSG00000164326	ENST00000296777	T	0.58797	0.31	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74917	-0.3501	10	0.66056	D	0.02	.	17.1015	0.86651	0.0:0.0:1.0:0.0	.	59	Q16568	CART_HUMAN	K	59	ENSP00000296777:E59K	ENSP00000296777:E59K	E	+	1	0	0	CARTPT	71051478	71051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.966000	0.93397	2.340000	0.79590	0.655000	0.94253	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_004291			69	68		336	333	1		1			0	0	75	0		1	0	0	0	0	0	0	69	336
MAP1B	4131	broad.mit.edu	37	5	71490172	71490172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	330					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(988-990)gaG>gaA		microtubule-associated protein 1B							61.0	56.0	58.0					5																	71490172		2203	4300	6503	SO:0001819	synonymous_variant	4131	0	0					g.chr5:71490172G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.990G>A	chr5.hg19:g.71490172G>A		0						p.E330E	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	1288	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Silent	SNP	ENST00000296755.7	1	1	hg19	c.990G>A	CCDS4012.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_005909			63	63		278	275	0		1	1		0	0	56	0		1	9.999590e-01	0	23	0	45	0	63	278
MAP1B	4131	broad.mit.edu	37	5	71490541	71490541	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	453					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(1357-1359)ctG>ctA		microtubule-associated protein 1B							106.0	107.0	106.0					5																	71490541		2203	4300	6503	SO:0001819	synonymous_variant	4131	0	0					g.chr5:71490541G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1359G>A	chr5.hg19:g.71490541G>A		0						p.L453L	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	1657	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Silent	SNP	ENST00000296755.7	1	1	hg19	c.1359G>A	CCDS4012.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_005909			79	76		393	387	1		1	1		0	0	80	0		1	9.999947e-01	0	24	0	65	0	79	393
MAP1B	4131	broad.mit.edu	37	5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(2668-2670)Gag>Aag		microtubule-associated protein 1B		G	LYS/GLU	0,4406		0,0,2203	106.0	109.0	108.0		2668	5.4	1.0	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	890/2469	71491850	1,13005	2203	4300	6503	SO:0001583	missense	4131	2	121412	39				g.chr5:71491850G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2668G>A	chr5.hg19:g.71491850G>A	ENSP00000296755:p.Glu890Lys	0						p.E890K	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	2966	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	1	1	hg19	c.2668G>A	CCDS4012.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.267	T	0.01269	-1.1400	10	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	764;890	A2BDK6;P46821	.;MAP1B_HUMAN	K	890	ENSP00000296755:E890K	ENSP00000296755:E890K	E	+	1	0	0	MAP1B	71527606	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	149		149	146	1	2.060000	-3.288701	1	0.170000	NM_005909			143	140		633	617	1		1	1		0	0	149	0		1	9.999998e-01	0	22	0	75	0	143	633
MAP1B	4131	broad.mit.edu	37	5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A	rs370336362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1242					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				104						c.(3724-3726)aGc>aAc		microtubule-associated protein 1B							90.0	84.0	86.0					5																	71492907		2203	4300	6503	SO:0001583	missense	4131	0	0					g.chr5:71492907G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3725G>A	chr5.hg19:g.71492907G>A	ENSP00000296755:p.Ser1242Asn	0						p.S1242N	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	4023	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	1	1	hg19	c.3725G>A	CCDS4012.1	1	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477422	0.12521	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.42	2.52	0.30459	5.42	2.52	0.30459	.	0.507002	0.19548	N	0.111629	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.46925	-0.9156	10	0.27785	T	0.31	-2.3124	5.2439	0.15487	0.215:0.4979:0.2178:0.0693	.	1116;1242	A2BDK6;P46821	.;MAP1B_HUMAN	N	1242	ENSP00000296755:S1242N	ENSP00000296755:S1242N	S	+	2	0	0	MAP1B	71528663	71528663	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	-0.428000	0.06991	0.680000	0.31366	-0.120000	0.15030	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_005909			49	49		300	289	1		1	1		0	0	69	0		1	9.999799e-01	0	20	0	80	0	49	300
MAP1B	4131	broad.mit.edu	37	5	71495076	71495076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495076G>T	ENST00000296755.7	+	5	6192	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAA	0.483																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(5893-5895)aGc>aTc		microtubule-associated protein 1B							64.0	70.0	68.0					5																	71495076		2203	4300	6503	SO:0001583	missense	4131	0	0					g.chr5:71495076G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5894G>T	chr5.hg19:g.71495076G>T	ENSP00000296755:p.Ser1965Ile	0						p.S1965I	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	6192	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	1	0	hg19	c.5894G>T	CCDS4012.1	1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737388	0.30774	.	.	ENSG00000131711	ENST00000296755	T	0.03441	3.93	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.086406	0.49305	D	0.000159	T	0.03178	0.0093	N	0.08118	0	0.26955	N	0.965932	B;B	0.28350	0.208;0.044	B;B	0.31390	0.029;0.129	T	0.44817	-0.9303	10	0.46703	T	0.11	-10.5107	16.432	0.83847	0.0:0.0:1.0:0.0	.	1839;1965	A2BDK6;P46821	.;MAP1B_HUMAN	I	1965	ENSP00000296755:S1965I	ENSP00000296755:S1965I	S	+	2	0	0	MAP1B	71530832	71530832	0.003000	0.15002	0.641000	0.29422	0.268000	0.26511	0.619000	0.24388	2.312000	0.78011	0.448000	0.29417	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-1.230194	0	0.170000	NM_005909			94	93		461	449	1		1	1		0	0	101	0		1	9.999999e-01	0	29	0	84	0	94	461
MAP1B	4131	broad.mit.edu	37	5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2053					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(6157-6159)caG>caT		microtubule-associated protein 1B							119.0	130.0	126.0					5																	71495341		2203	4300	6503	SO:0001583	missense	4131	0	0					g.chr5:71495341G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6159G>T	chr5.hg19:g.71495341G>T	ENSP00000296755:p.Gln2053His	0						p.Q2053H	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	6457	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	1	1	hg19	c.6159G>T	CCDS4012.1	1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029292	0.07589	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.68	2.4	0.29515	5.68	2.4	0.29515	.	0.098257	0.45126	D	0.000385	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999998	D;B	0.58970	0.984;0.011	P;B	0.46796	0.527;0.005	T	0.44742	-0.9308	10	0.52906	T	0.07	-18.0727	3.7741	0.08653	0.313:0.0:0.4124:0.2745	.	1927;2053	A2BDK6;P46821	.;MAP1B_HUMAN	H	2053	ENSP00000296755:Q2053H	ENSP00000296755:Q2053H	Q	+	3	2	2	MAP1B	71531097	71531097	0.273000	0.24181	0.614000	0.29051	0.294000	0.27393	0.403000	0.20982	0.711000	0.32018	0.655000	0.94253	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_005909			120	117		580	560	1		1	1		0	0	158	0		1	1	0	30	0	129	0	120	580
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213					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.R2213H(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)		CCTTCGCCACGCCACCCTGAT	0.537																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R2213H(1)	prostate(1)	104						c.(6637-6639)cGc>cAc		microtubule-associated protein 1B							121.0	113.0	115.0					5																	71495820		2203	4300	6503	SO:0001583	missense	4131	3	121412	39				g.chr5:71495820G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6638G>A	chr5.hg19:g.71495820G>A	ENSP00000296755:p.Arg2213His	0						p.R2213H	NM_005909.3	NP_005900.2	1	2	3	2.006602	P46821	MAP1B_HUMAN		5	6936	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	1	1	hg19	c.6638G>A	CCDS4012.1	1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471969	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.15219	0.0367	L	0.51422	1.61	0.36631	D	0.876291	D;D	0.76494	0.998;0.999	D;P	0.70935	0.971;0.854	T	0.00500	-1.1703	10	0.44086	T	0.13	-11.5509	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2087;2213	A2BDK6;P46821	.;MAP1B_HUMAN	H	2213	ENSP00000296755:R2213H	ENSP00000296755:R2213H	R	+	2	0	0	MAP1B	71531576	71531576	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.954000	0.63631	2.826000	0.97356	0.655000	0.94253	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000	NM_005909			148	147		654	639	1		1	1		0	0	155	0		1	1	0	42	0	100	0	148	654
ZNF366	167465	broad.mit.edu	37	5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T	rs372282294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502																																						ENST00000318442.5	1.000000	0.280000	5.300000e-01	3.400000e-01	0.420000	0.467477	0.420000	0.410000																										0				35						c.(2128-2130)cGg>cAg		zinc finger protein 366		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	79.0	76.0		2129	2.7	1.0	5		76	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	710/745	71739689	1,13005	2203	4300	6503	SO:0001583	missense	167465	2	121412	37				g.chr5:71739689C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2129G>A	chr5.hg19:g.71739689C>T	ENSP00000313158:p.Arg710Gln	0					RP11-389C8.2_ENST00000564956.1_RNA	p.R710Q	NM_152625.1	NP_689838.1	1	2	3	2.006602	Q8N895	ZN366_HUMAN		5	2619	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	1	1	hg19	c.2129G>A	CCDS4015.1	0	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410426	0.42715	2.27E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.87	2.65	0.31530	5.87	2.65	0.31530	.	0.195578	0.35407	N	0.003234	T	0.04003	0.0112	N	0.12182	0.205	0.22940	N	0.998537	B	0.20052	0.041	B	0.08055	0.003	T	0.41770	-0.9490	10	0.24483	T	0.36	-27.7783	6.7823	0.23652	0.4795:0.4319:0.0:0.0886	.	710	Q8N895	ZN366_HUMAN	Q	710	ENSP00000313158:R710Q	ENSP00000313158:R710Q	R	-	2	0	0	ZNF366	71775445	71775445	0.053000	0.20554	0.969000	0.41365	0.938000	0.57974	0.801000	0.27055	0.905000	0.36596	0.655000	0.94253	CGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	0	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-2.498426	0	0.170000				27	26		746	727	0		1	0		0	0	139	0		9.999999e-01	1.245914e-02	0	0	0	5	0	27	746
ZNF366	167465	broad.mit.edu	37	5	71756349	71756349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	325					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657																																						ENST00000318442.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(973-975)aaG>aaA		zinc finger protein 366							42.0	40.0	41.0					5																	71756349		2203	4300	6503	SO:0001819	synonymous_variant	167465	0	0					g.chr5:71756349C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.975G>A	chr5.hg19:g.71756349C>T		0						p.K325K	NM_152625.1	NP_689838.1	1	2	3	2.006602	Q8N895	ZN366_HUMAN		2	1465	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	1	1	hg19	c.975G>A	CCDS4015.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				66	65		231	228	1		1	0		0	0	46	0		1	2.196995e-01	0	0	0	4	0	66	231
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(382-384)Gtc>Atc		transmembrane protein 171							125.0	128.0	127.0					5																	72419582		2203	4300	6503	SO:0001583	missense	134285	3	121412	37				g.chr5:72419582G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	chr5.hg19:g.72419582G>A	ENSP00000415030:p.Val128Ile	0					TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I	p.V128I			1	2	3	2.006602	Q8WVE6	TM171_HUMAN		2	855	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	1	1	hg19	c.382G>A	CCDS4017.1	1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	0	TMEM171	72455338	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	1	0	1		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_173490			114	113		559	551	1		1	1		0	0	124	0		1	9.749316e-01	0	11	0	20	0	114	559
TMEM174	134288	broad.mit.edu	37	5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A	rs576661140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	38						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557																																						ENST00000296776.5	1.000000	0.720000	1	8.100000e-01	0.900000	0.905446	0.900000	1.000000																										0				7						c.(112-114)Gcc>Acc		transmembrane protein 174							159.0	148.0	152.0					5																	72469182		2203	4300	6503	SO:0001583	missense	134288	3	121410	43				g.chr5:72469182G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.112G>A	chr5.hg19:g.72469182G>A	ENSP00000296776:p.Ala38Thr	0					TMEM174_ENST00000511737.1_3'UTR	p.A38T	NM_153217.2	NP_694949.1	1	2	3	2.006602	Q8WUU8	TM174_HUMAN		1	161	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	1	1	hg19	c.112G>A	CCDS4018.1	1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844751	0.71603	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.05	0.67936	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.29908	0.895	0.44603	D	0.997579	P	0.41450	0.75	B	0.40677	0.337	T	0.30001	-0.9993	9	0.36615	T	0.2	-3.8862	11.5914	0.50947	0.1854:0.0:0.8146:0.0	.	38	Q8WUU8	TM174_HUMAN	T	38	.	ENSP00000296776:A38T	A	+	1	0	0	TMEM174	72504938	72504938	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.344000	0.59354	1.530000	0.49136	-0.119000	0.15052	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-16.945730	1	0.170000	NM_153217			86	81		1045	1026	0		1			0	0	186	0		1	0	0	0	0	0	0	86	1045
UTP15	84135	broad.mit.edu	37	5	72875701	72875701	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000508491.1_Splice_Site|UTP15_ENST00000543251.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274																																						ENST00000296792.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				15						c.e13-1		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							35.0	39.0	38.0					5																	72875701		2195	4297	6492	SO:0001630	splice_region_variant	84135	0	0					g.chr5:72875701G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1340-1G>T	chr5.hg19:g.72875701G>T		0					UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site		NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	1	2	3	2.006602	Q8TED0	UTP15_HUMAN		13	1594	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Splice_Site	SNP	ENST00000296792.4	1	1	hg19		CCDS34186.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542509	0.85917	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	UTP15	72911457	72911457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.941000	0.99782	0.655000	0.94253	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_032175	Intron		30	31		159	157	1		1			0	0	32	0		1	0	0	0	0	0	0	30	159
ENC1	8507	broad.mit.edu	37	5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000302351.4	-	2	2227	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	366					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567																																						ENST00000302351.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1096-1098)gAg>gGg		ectodermal-neural cortex 1 (with BTB domain)							61.0	62.0	62.0					5																	73931214		2203	4300	6503	SO:0001583	missense	8507	0	0					g.chr5:73931214T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1097A>G	chr5.hg19:g.73931214T>C	ENSP00000306356:p.Glu366Gly	0					ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	p.E366G	NM_003633.3	NP_003624.1	1	2	3	2.006602	O14682	ENC1_HUMAN		2	2227	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	1	1	hg19	c.1097A>G	CCDS4021.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172379	0.78452	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76839	-1.05;-1.05;-1.05	5.89	5.89	0.94794	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	N	0.25144	0.715	0.80722	D	1	B	0.19445	0.036	B	0.28305	0.088	T	0.67110	-0.5753	10	0.59425	D	0.04	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	366	O14682	ENC1_HUMAN	G	366;293;366	ENSP00000306356:E366G;ENSP00000423804:E293G;ENSP00000446289:E366G	ENSP00000306356:E366G	E	-	2	0	0	ENC1	73966970	73966970	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	0	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_003633			93	90		423	411	1		1	1		0	0	78	0		1	1	0	34	0	167	0	93	423
HEXB	3074	broad.mit.edu	37	5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000261416.7	+	7	958	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HEXB_ENST00000511181.1_Nonsense_Mutation_p.R56*	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	281					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)			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)		TGCCAGATTACGAGGAATTCG	0.343																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000261416.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(841-843)Cga>Tga		hexosaminidase B (beta polypeptide)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152.0	150.0	151.0		841	3.7	1.0	5	dbSNP_134	151	0,8600		0,0,4300	no	stop-gained	HEXB	NM_000521.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/557	74009400	1,13005	2203	4300	6503	SO:0001587	stop_gained	3074	2	121412	35				g.chr5:74009400C>T	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.841C>T	chr5.hg19:g.74009400C>T	ENSP00000261416:p.Arg281*	0					HEXB_ENST00000511181.1_Nonsense_Mutation_p.R56*	p.R281*	NM_000521.3	NP_000512	1	2	3	2.006602	P07686	HEXB_HUMAN		7	958	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		Nonsense_Mutation	SNP	ENST00000261416.7	0	1	hg19	c.841C>T	CCDS4022.1	1	.	.	.	.	.	.	.	.	.	.	C	46	12.186262	0.99644	2.27E-4	0.0	ENSG00000049860	ENST00000511181;ENST00000261416	.	.	.	5.59	3.71	0.42584	5.59	3.71	0.42584	.	0.097811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9659	8.8862	0.35404	0.2495:0.6724:0.0:0.0781	.	.	.	.	X	56;281	.	ENSP00000261416:R281X	R	+	1	2	2	HEXB	74045156	74045156	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	2.131000	0.42074	1.358000	0.45922	0.555000	0.69702	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_000521			97	95		501	493	1		1	1		0	0	89	0		1	1	0	8	0	936	0	97	501
GFM2	84340	broad.mit.edu	37	5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.G558W(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)		TGGAGAGGCCCGAGATAGGTC	0.433																																						ENST00000296805.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G558W(1)	lung(1)	14						c.(1672-1674)Ggg>Agg		G elongation factor, mitochondrial 2		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	113.0	107.0	109.0		1672,1531	5.6	1.0	5	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	558/780,511/733	74026139	1,13005	2203	4300	6503	SO:0001583	missense	84340	2	121410	33				g.chr5:74026139C>T	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.1672G>A	chr5.hg19:g.74026139C>T	ENSP00000296805:p.Gly558Arg	0					GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R	p.G558R	NM_032380.3	NP_115756.2	1	2	3	2.006602				17	2129	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		Missense_Mutation	SNP	ENST00000296805.3	1	1	hg19	c.1672G>A	CCDS4023.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842168	0.91197	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.74209	-0.82;-0.82;-0.82	5.64	5.64	0.86602	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.85779	0.1360	10	0.87932	D	0	-13.6338	19.7116	0.96098	0.0:1.0:0.0:0.0	.	558;511;558	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	R	558;511;558	ENSP00000296805:G558R;ENSP00000296804:G511R;ENSP00000427004:G558R	ENSP00000296805:G558R	G	-	1	0	0	GFM2	74061895	74061895	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	7.595000	0.82710	2.673000	0.90976	0.555000	0.69702	GGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-2.820923	1	0.170000	NM_032380			64	64		241	237	1		1	1		0	0	54	0		1	9.999904e-01	0	17	0	50	0	64	241
GFM2	84340	broad.mit.edu	37	5	74047308	74047308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74047308A>C	ENST00000296805.3	-	6	772	c.315T>G	c.(313-315)gaT>gaG	p.D105E	GFM2_ENST00000345239.2_Missense_Mutation_p.D105E|GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											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)		CTGTGTCTCCATCATCAACAT	0.388																																						ENST00000296805.3	1.000000	0.110000	2.800000e-01	1.500000e-01	0.200000	0.266321	0.200000	0.190000																										0				14						c.(313-315)gaT>gaG		G elongation factor, mitochondrial 2							179.0	169.0	172.0					5																	74047308		2203	4300	6503	SO:0001583	missense	84340	0	0					g.chr5:74047308A>C	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.315T>G	chr5.hg19:g.74047308A>C	ENSP00000296805:p.Asp105Glu	0					GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E	p.D105E	NM_032380.3	NP_115756.2	1	2	3	2.006602				6	772	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		Missense_Mutation	SNP	ENST00000296805.3	0	1	hg19	c.315T>G	CCDS4023.1	0	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844763	0.32606	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.84	1.43	0.22495	5.84	1.43	0.22495	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.140543	0.64402	D	0.000005	T	0.58061	0.2096	L	0.37507	1.11	0.52501	D	0.999956	B;B;B;B	0.30406	0.074;0.278;0.278;0.091	B;B;B;B	0.36504	0.059;0.226;0.226;0.139	T	0.41770	-0.9490	10	0.07030	T	0.85	-19.5448	5.3805	0.16189	0.7089:0.0:0.1654:0.1257	.	105;105;105;105	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	E	105;105;105;105;105;30	ENSP00000296805:D105E;ENSP00000296804:D105E;ENSP00000427004:D105E;ENSP00000405808:D105E;ENSP00000424877:D30E	ENSP00000296805:D105E	D	-	3	2	2	GFM2	74083064	74083064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.169000	0.31871	0.341000	0.23771	0.528000	0.53228	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	0	0	1		2	2	2	0		0	0	185		185	184	1	2.060000	-9.620594	1	0.170000	NM_032380			14	14		831	814	0		1	0		0	0	185	0		9.997142e-01	3.853756e-01	0	1	0	74	0	14	831
FAM169A	26049	broad.mit.edu	37	5	74091955	74091955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74091955G>T	ENST00000389156.4	-	11	1250	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	387	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTCTGTTCAGGTTCTTCTTC	0.433																																						ENST00000389156.4	1.000000	0.300000	6.000000e-01	3.700000e-01	0.470000	0.510523	0.470000	0.460000																										0				27						c.(1159-1161)cCt>cAt		family with sequence similarity 169, member A							175.0	160.0	165.0					5																	74091955		1925	4142	6067	SO:0001583	missense	26049	0	0					g.chr5:74091955G>T		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.1160C>A	chr5.hg19:g.74091955G>T	ENSP00000373808:p.Pro387His	0					FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H	p.P387H	NM_015566.2	NP_056381.1	1	2	3	2.006602	Q9Y6X4	F169A_HUMAN		11	1250	-			A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	1	1	hg19	c.1160C>A	CCDS43330.1	0	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255043	0.22965	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.46063	0.88	5.91	3.1	0.35709	5.91	3.1	0.35709	.	0.676716	0.14097	N	0.341650	T	0.31327	0.0793	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.26258	0.013;0.145	B;B	0.31442	0.013;0.13	T	0.33420	-0.9869	10	0.72032	D	0.01	-1.4944	4.4626	0.11673	0.0816:0.1453:0.5967:0.1764	.	327;387	D6RB01;Q9Y6X4	.;F169A_HUMAN	H	387;327	ENSP00000373808:P387H	ENSP00000373808:P387H	P	-	2	0	0	FAM169A	74127711	74127711	0.037000	0.19845	0.007000	0.13788	0.687000	0.40016	0.715000	0.25822	0.348000	0.23949	-0.165000	0.13383	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2	0	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.054187	1	0.170000				24	22		597	590	0		1	0		0	0	103	0		9.999996e-01	5.979731e-02	0	0	0	10	0	24	597
HMGCR	3156	broad.mit.edu	37	5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	84	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			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)	CCAGAATTTACGTCAACTTGG	0.328																																						ENST00000287936.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(250-252)Cgt>Tgt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						95.0	95.0	95.0					5																	74639762		2203	4297	6500	SO:0001583	missense	3156	0	0					g.chr5:74639762C>T		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.250C>T	chr5.hg19:g.74639762C>T	ENSP00000287936:p.Arg84Cys	0					HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	p.R84C	NM_000859.2	NP_000850.1	1	2	3	2.006602	P04035	HMDH_HUMAN		3	406	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	1	1	hg19	c.250C>T	CCDS4027.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683876|3.683876	0.68157|0.68157	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942|ENST00000544469	D;D;D|.	0.93247|.	-3.19;-3.19;-3.19|.	5.36|5.36	4.41|4.41	0.53225|0.53225	5.36|5.36	4.41|4.41	0.53225|0.53225	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.947;0.994;0.947|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|6	0.87932|0.87932	D|D	0|0	-11.8413|-11.8413	12.8214|12.8214	0.57696|0.57696	0.2856:0.7144:0.0:0.0|0.2856:0.7144:0.0:0.0	.|.	84;84;84|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	C|M	84|15	ENSP00000426745:R84C;ENSP00000287936:R84C;ENSP00000340816:R84C|.	ENSP00000287936:R84C|ENSP00000440782:T15M	R|T	+|+	1|2	0|0	0|0	HMGCR|HMGCR	74675518|74675518	74675518|74675518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.679000|2.679000	0.46909|0.46909	2.505000|2.505000	0.84491|0.84491	0.591000|0.591000	0.81541|0.81541	CGT|ACG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-19.999920	1	0.170000				50	50		276	272	1		1	1		0	0	92	0		1	9.999964e-01	0	31	0	74	0	50	276
HMGCR	3156	broad.mit.edu	37	5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	803	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)			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)	TATAGAGATAGGAACGGTGGG	0.448																																						ENST00000287936.4	1.000000	0.270000	7.400000e-01	3.800000e-01	0.530000	0.568734	0.530000	0.500000																										0				20						c.(2407-2409)Gga>Tga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						80.0	82.0	81.0					5																	74655331		2203	4300	6503	SO:0001587	stop_gained	3156	0	0					g.chr5:74655331G>T		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.2407G>T	chr5.hg19:g.74655331G>T	ENSP00000287936:p.Gly803*	0					HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	p.G803*	NM_000859.2	NP_000850.1	1	2	3	2.006602	P04035	HMDH_HUMAN		18	2563	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	B7Z3Y9|Q8N190	Nonsense_Mutation	SNP	ENST00000287936.4	0	1	hg19	c.2407G>T	CCDS4027.1	0	.	.	.	.	.	.	.	.	.	.	G	40	7.964543	0.98585	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2011	17.8148	0.88628	0.0:0.0:1.0:0.0	.	.	.	.	X	803;734;803;750;180	.	ENSP00000287936:G803X	G	+	1	0	0	HMGCR	74691087	74691087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.592000	0.98245	2.416000	0.81992	0.655000	0.94253	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.290948	1	0.170000				11	11		248	244	0		1	0		0	0	48	0		9.982923e-01	9.307931e-01	0	0	0	107	0	11	248
COL4A3BP	10087	broad.mit.edu	37	5	74676924	74676924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000405807.4	-	16	2141	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	COL4A3BP_ENST00000380494.5_Silent_p.L702L|COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000261415.7_Silent_p.L548L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	574	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373																																						ENST00000405807.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1720-1722)Cta>Tta		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							241.0	215.0	224.0					5																	74676924		2203	4300	6503	SO:0001819	synonymous_variant	10087	2	121410	34				g.chr5:74676924G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1720C>T	chr5.hg19:g.74676924G>A		0					COL4A3BP_ENST00000380494.5_Silent_p.L702L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	p.L574L	NM_005713.2	NP_005704.1	1	2	3	2.006602	Q9Y5P4	C43BP_HUMAN		16	2141	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	1	1	hg19	c.1720C>T	CCDS4028.1	1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009043	0.19199	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	T	0.76905	0.4053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	-7.9902	20.0985	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	0	COL4A3BP	74712680	74712680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.644000	0.61397	2.742000	0.94016	0.579000	0.79373	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_005713			136	136		633	620	1		1	1		0	0	162	0		1	9.999992e-01	0	16	0	76	0	136	633
POLK	51426	broad.mit.edu	37	5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|CTC-366B18.2_ENST00000511329.1_RNA	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	526					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)			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)		GAAACACCAACAAAGGAGCAT	0.378								DNA polymerases (catalytic subunits)																														ENST00000241436.4	1.000000	0.170000	6.000000e-01	2.700000e-01	0.400000	0.452070	0.400000	0.360000																										0				27						c.(1576-1578)Caa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							51.0	53.0	52.0					5																	74892094		2203	4300	6503	SO:0001587	stop_gained	51426	0	0					g.chr5:74892094C>T	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.1576C>T	chr5.hg19:g.74892094C>T	ENSP00000241436:p.Gln526*	0					POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*	p.Q526*	NM_016218.2	NP_057302.1	1	2	3	2.006602	Q9UBT6	POLK_HUMAN		13	1748	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	ENST00000241436.4	0	1	hg19	c.1576C>T	CCDS4030.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.605983	0.97701	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.8568	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	526;328;328;436	.	ENSP00000241436:Q526X	Q	+	1	0	0	POLK	74927850	74927850	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.627000	0.74258	2.661000	0.90470	0.655000	0.94253	CAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-8.719877	1	0.170000	NM_016218			7	7		218	215	0		1	0		0	0	38	0		9.798336e-01	7.640686e-01	0	1	0	86	0	7	218
SV2C	22987	broad.mit.edu	37	5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	178					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			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)		CGTGTTACCCAGTGCTGAGAC	0.512																																						ENST00000502798.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(532-534)Agt>Ggt		synaptic vesicle glycoprotein 2C							160.0	151.0	154.0					5																	75428107		2068	4205	6273	SO:0001583	missense	22987	0	0					g.chr5:75428107A>G	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.532A>G	chr5.hg19:g.75428107A>G	ENSP00000423541:p.Ser178Gly	0					SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	p.S178G	NM_014979.1	NP_055794.1	1	2	3	2.006602	Q496J9	SV2C_HUMAN		2	974	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	1	1	hg19	c.532A>G	CCDS43331.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979483	0.74360	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47528	0.84;0.84	5.65	4.47	0.54385	5.65	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71441	-0.4592	10	0.87932	D	0	-11.3857	12.8594	0.57906	0.8636:0.1364:0.0:0.0	.	178	Q496J9	SV2C_HUMAN	G	178	ENSP00000423541:S178G;ENSP00000316983:S178G	ENSP00000316983:S178G	S	+	1	0	0	SV2C	75463863	75463863	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.339000	0.96797	0.962000	0.38057	-0.313000	0.08912	AGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000				77	73		358	352	1		1			0	0	87	0		1	0	0	0	0	0	0	77	358
F2RL2	2151	broad.mit.edu	37	5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000296641.4	-	2	878	c.675G>A	c.(673-675)atG>atA	p.M225I	F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	225					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAATGGCAGCATATATAAGA	0.493																																						ENST00000296641.4	1.000000	0.210000	6.700000e-01	3.100000e-01	0.450000	0.501244	0.450000	0.420000																										0				32						c.(673-675)atG>atA		coagulation factor II (thrombin) receptor-like 2							62.0	58.0	59.0					5																	75913857		2203	4300	6503	SO:0001583	missense	2151	0	0					g.chr5:75913857C>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.675G>A	chr5.hg19:g.75913857C>T	ENSP00000296641:p.Met225Ile	0					IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000396234.3_Intron	p.M225I	NM_004101.3	NP_004092.1	1	2	3	2.006602	O00254	PAR3_HUMAN		2	878	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	1	1	hg19	c.675G>A	CCDS4031.1	0	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36699	1.24;1.24	5.09	5.09	0.68999	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.136641	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.37047	D	0.897399	B	0.26258	0.145	B	0.29267	0.1	T	0.22626	-1.0211	10	0.21014	T	0.42	-26.9937	18.5213	0.90954	0.0:1.0:0.0:0.0	.	225	O00254	PAR3_HUMAN	I	225;203	ENSP00000296641:M225I;ENSP00000426703:M203I	ENSP00000296641:M225I	M	-	3	0	0	F2RL2	75949613	75949613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.429000	0.52800	2.367000	0.80283	0.563000	0.77884	ATG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-9.821361	1	0.170000				8	8		216	210	0		1	0		0	0	48	0		9.885410e-01	9.775175e-01	0	0	0	183	0	8	216
F2RL2	2151	broad.mit.edu	37	5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000296641.4	-	2	318	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	39		Cleavage; by thrombin. {ECO:0000250}.			blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398																																						ENST00000296641.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(115-117)Acc>Tcc		coagulation factor II (thrombin) receptor-like 2							81.0	91.0	88.0					5																	75914417		2186	4293	6479	SO:0001583	missense	2151	0	0					g.chr5:75914417T>A	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.115A>T	chr5.hg19:g.75914417T>A	ENSP00000296641:p.Thr39Ser	0					IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000396234.3_Intron	p.T39S	NM_004101.3	NP_004092.1	1	2	3	2.006602	O00254	PAR3_HUMAN		2	318	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	1	1	hg19	c.115A>T	CCDS4031.1	1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736183	0.30774	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65178	-0.14;-0.08	4.65	3.42	0.39159	4.65	3.42	0.39159	.	0.067630	0.56097	N	0.000031	T	0.44519	0.1297	L	0.28458	0.855	0.26358	N	0.977094	B	0.23891	0.093	B	0.23150	0.044	T	0.23797	-1.0178	10	0.14252	T	0.57	-10.413	8.9959	0.36052	0.165:0.0:0.0:0.835	.	39	O00254	PAR3_HUMAN	S	39;17	ENSP00000296641:T39S;ENSP00000426703:T17S	ENSP00000296641:T39S	T	-	1	0	0	F2RL2	75950173	75950173	1.000000	0.71417	0.316000	0.25252	0.700000	0.40528	1.729000	0.38115	0.595000	0.29777	0.460000	0.39030	ACC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3	0	0	1		17	9	2	1		1	1	114		114	114	1	2.060000	-20.000000	1	0.170000				99	98		448	438	1		1	0		1	0	114	0		1	1	0	0	0	211	0	99	448
IQGAP2	10788	broad.mit.edu	37	5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	631					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)			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)		TGCTTGTATAAAGAATCATGG	0.373																																						ENST00000274364.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1891-1893)aAa>aCa		IQ motif containing GTPase activating protein 2							104.0	102.0	103.0					5																	75932970		2203	4300	6503	SO:0001583	missense	10788	0	0					g.chr5:75932970A>C	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.1892A>C	chr5.hg19:g.75932970A>C	ENSP00000274364:p.Lys631Thr	0					IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T	p.K631T	NM_006633.2	NP_006624	1	2	3	2.006602	Q13576	IQGA2_HUMAN		16	2189	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	1	1	hg19	c.1892A>C	CCDS34188.1	1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455648	0.26161	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.271796	0.42053	D	0.000765	T	0.56978	0.2022	M	0.71581	2.175	0.24087	N	0.995924	P;B;P;B	0.37914	0.611;0.141;0.611;0.141	B;B;B;B	0.38842	0.283;0.108;0.283;0.065	T	0.54925	-0.8220	10	0.27082	T	0.32	-22.9968	12.3878	0.55343	1.0:0.0:0.0:0.0	.	190;581;184;631	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	631;190;604;581;184;184;184;184	ENSP00000274364:K631T;ENSP00000442313:K190T;ENSP00000423672:K604T;ENSP00000421097:K581T;ENSP00000422661:K184T;ENSP00000379535:K184T;ENSP00000426027:K184T	ENSP00000274364:K631T	K	+	2	0	0	IQGAP2	75968726	75968726	1.000000	0.71417	0.228000	0.23943	0.142000	0.21351	4.922000	0.63404	2.186000	0.69663	0.477000	0.44152	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_006633			104	103		379	374	1		1	1		0	0	97	0		1	9.999999e-01	0	5	0	80	0	104	379
IQGAP2	10788	broad.mit.edu	37	5	75967644	75967644	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000379730.3_Silent_p.V470V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	968	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)			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)		TCAAGATGGTCGTCAGCTTCA	0.468																																						ENST00000274364.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2902-2904)gtC>gtT		IQ motif containing GTPase activating protein 2							81.0	83.0	82.0					5																	75967644		2203	4300	6503	SO:0001819	synonymous_variant	10788	0	0					g.chr5:75967644C>T	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.2904C>T	chr5.hg19:g.75967644C>T		0					IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000396234.3_Silent_p.V464V	p.V968V	NM_006633.2	NP_006624	1	2	3	2.006602	Q13576	IQGA2_HUMAN		24	3201	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	1	1	hg19	c.2904C>T	CCDS34188.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-3.417622	1	0.170000	NM_006633			63	61		250	240	1		1	1		0	0	63	0		1	9.999957e-01	0	4	0	71	0	63	250
IQGAP2	10788	broad.mit.edu	37	5	75979000	75979000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000379730.3_Silent_p.L743L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1241					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)			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)		GAGTGAATTGCTGGGGTCGCT	0.433																																						ENST00000274364.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3721-3723)Ctg>Ttg		IQ motif containing GTPase activating protein 2							113.0	119.0	117.0					5																	75979000		2203	4300	6503	SO:0001819	synonymous_variant	10788	0	0					g.chr5:75979000C>T	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.3721C>T	chr5.hg19:g.75979000C>T		0					IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000396234.3_Silent_p.L737L	p.L1241L	NM_006633.2	NP_006624	1	2	3	2.006602	Q13576	IQGA2_HUMAN		29	4018	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	1	1	hg19	c.3721C>T	CCDS34188.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.342519	1	0.170000	NM_006633			78	78		382	377	1		1	1		0	0	89	0		1	1	0	7	0	210	0	78	382
IQGAP2	10788	broad.mit.edu	37	5	76003126	76003126	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000502745.1_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Silent_p.F1074F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1572					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)			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)		ACAAGAAGTTCTATGGAAAGT	0.299																																						ENST00000274364.6	1.000000	0.210000	6.800000e-01	3.200000e-01	0.460000	0.508760	0.460000	0.420000																										0				68						c.(4714-4716)ttC>ttT		IQ motif containing GTPase activating protein 2							68.0	67.0	67.0					5																	76003126		2203	4298	6501	SO:0001819	synonymous_variant	10788	0	0					g.chr5:76003126C>T	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.4716C>T	chr5.hg19:g.76003126C>T		0					IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Silent_p.F1068F|IQGAP2_ENST00000396234.3_Silent_p.F1068F	p.F1572F	NM_006633.2	NP_006624	1	2	3	2.006602	Q13576	IQGA2_HUMAN		36	5013	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	1	1	hg19	c.4716C>T	CCDS34188.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-9.804663	1	0.170000	NM_006633			8	8		212	209	0		1	1		0	0	38	0		9.891606e-01	9.797975e-01	0	6	0	179	0	8	212
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					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)			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)		CAGCTGCATCGACCCCTTTGT	0.473																																						ENST00000296677.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1018-1020)Gac>Aac		coagulation factor II (thrombin) receptor-like 1							370.0	362.0	365.0					5																	76129450		2203	4300	6503	SO:0001583	missense	2150	0	0					g.chr5:76129450G>A	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.1018G>A	chr5.hg19:g.76129450G>A	ENSP00000296677:p.Asp340Asn	0						p.D340N	NM_005242.4	NP_005233	1	2	3	2.006602	P55085	PAR2_HUMAN		2	1224	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	1	1	hg19	c.1018G>A	CCDS4033.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	0	F2RL1	76165206	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2	1	0	1		2	2	2	0		0	0	472		472	468	1	2.060000	-20.000000	1	0.170000				455	448		1979	1934	1		1	1		0	0	472	0		1	1	0	101	0	163	0	455	1979
CRHBP	1393	broad.mit.edu	37	5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	149					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AGCAGGAGGAGCATCAGATCT	0.493																																						ENST00000274368.4	1.000000	0.290000	7.100000e-01	3.900000e-01	0.520000	0.559398	0.520000	0.480000																										0				16						c.(445-447)aGc>aAc		corticotropin releasing hormone binding protein							122.0	107.0	112.0					5																	76251590		2203	4300	6503	SO:0001583	missense	1393	0	0					g.chr5:76251590G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.446G>A	chr5.hg19:g.76251590G>A	ENSP00000274368:p.Ser149Asn	0					CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	p.S149N	NM_001882.3	NP_001873.2	1	2	3	2.006602	P24387	CRHBP_HUMAN		4	868	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	1	1	hg19	c.446G>A	CCDS4034.1	0	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506401	0.12883	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.60299	0.2;0.2	3.76	1.87	0.25490	3.76	1.87	0.25490	CUB (1);	0.191352	0.53938	D	0.000051	T	0.56978	0.2022	L	0.59436	1.845	0.29183	N	0.876387	P;B	0.40578	0.722;0.351	P;B	0.46172	0.506;0.09	T	0.55042	-0.8202	10	0.45353	T	0.12	-24.923	9.8428	0.41008	0.0:0.4215:0.4347:0.1438	.	149;149	D6RHH7;P24387	.;CRHBP_HUMAN	N	149	ENSP00000274368:S149N;ENSP00000426097:S149N	ENSP00000274368:S149N	S	+	2	0	0	CRHBP	76287346	76287346	0.302000	0.24454	0.965000	0.40720	0.627000	0.37826	0.364000	0.20325	0.516000	0.28340	0.655000	0.94253	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-4.240822	1	0.170000	NM_001882			14	14		318	316	0		1	0		0	0	71	0		9.997597e-01	2.132196e-03	0	0	0	2	0	14	318
AGGF1	55109	broad.mit.edu	37	5	76326595	76326595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76326595G>A	ENST00000312916.7	+	1	386	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	2					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)			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)		GGAGCTCATGGCCTCGGAGGc	0.741																																						ENST00000312916.7	1.000000	0.460000	1	7.300000e-01	0.990000	0.903850	0.990000	1.000000																										0				20						c.(4-6)Gcc>Acc		angiogenic factor with G patch and FHA domains 1							6.0	7.0	7.0					5																	76326595		2086	4002	6088	SO:0001583	missense	55109	0	0					g.chr5:76326595G>A	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.4G>A	chr5.hg19:g.76326595G>A	ENSP00000316109:p.Ala2Thr	0					AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T|AGGF1_ENST00000503538.1_Intron	p.A2T	NM_018046.4	NP_060516.2	1	2	3	2.006602	Q8N302	AGGF1_HUMAN		1	386	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	0	1	hg19	c.4G>A	CCDS4035.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704739	0.48412	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;D	0.83163	0.86;-1.69	4.04	4.04	0.47022	4.04	4.04	0.47022	.	1.581550	0.03952	N	0.288677	D	0.90099	0.6907	L	0.54323	1.7	0.38013	D	0.934595	D;D	0.89917	0.993;1.0	D;D	0.83275	0.977;0.996	T	0.81373	-0.0962	10	0.87932	D	0	-13.0957	11.9022	0.52690	0.0:0.0:1.0:0.0	.	2;2	Q8N302;Q8N302-3	AGGF1_HUMAN;.	T	2	ENSP00000316109:A2T;ENSP00000424733:A2T	ENSP00000316109:A2T	A	+	1	0	0	AGGF1	76362351	76362351	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.055000	0.57441	2.258000	0.74832	0.555000	0.69702	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-14.212460	1	0.170000	NM_018046			6	6		62	61	0		1			0	0	10	0		9.640866e-01	0	0	0	0	0	0	6	62
PDE8B	8622	broad.mit.edu	37	5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	409					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)		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)	ATTCATTCAGATATAAGAACA	0.358																																						ENST00000264917.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																									GMDS/PDE8B(2)	0				40						c.(1225-1227)agA>agC		phosphodiesterase 8B	Caffeine(DB00201)|Ketotifen(DB00920)						88.0	88.0	88.0					5																	76700561		2203	4300	6503	SO:0001583	missense	8622	0	0					g.chr5:76700561A>C	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.1227A>C	chr5.hg19:g.76700561A>C	ENSP00000264917:p.Arg409Ser	0					PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S	p.R409S	NM_003719.3	NP_003710.1	1	2	3	2.006602	O95263	PDE8B_HUMAN		12	1272	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	1	1	hg19	c.1227A>C	CCDS4037.1	1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170914	0.38315	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.70749	-0.46;-0.51;-0.46;-0.46;-0.4	4.75	3.5	0.40072	4.75	3.5	0.40072	.	0.168621	0.48286	N	0.000194	T	0.53818	0.1820	L	0.33485	1.01	0.80722	D	1	B;B;P;B;B	0.35139	0.214;0.337;0.486;0.337;0.228	B;B;B;B;B	0.35727	0.098;0.149;0.209;0.149;0.071	T	0.47611	-0.9104	10	0.20519	T	0.43	.	6.6596	0.23007	0.7848:0.0:0.078:0.1372	.	312;362;409;389;409	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	362;312;409;389;409	ENSP00000345446:R362S;ENSP00000330428:R312S;ENSP00000264917:R409S;ENSP00000345646:R389S;ENSP00000331336:R409S	ENSP00000264917:R409S	R	+	3	2	2	PDE8B	76736317	76736317	0.018000	0.18449	1.000000	0.80357	0.980000	0.70556	0.256000	0.18351	1.898000	0.54952	0.460000	0.39030	AGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-19.998490	1	0.170000	NM_003719			41	41		201	201	1		1	0		0	0	50	0		1	4.730096e-01	0	0	0	9	0	41	201
PDE8B	8622	broad.mit.edu	37	5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	731	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		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)	AGATGACAAAACACTTTGAAC	0.433																																						ENST00000264917.5	1.000000	0.240000	5.900000e-01	3.200000e-01	0.430000	0.480115	0.430000	0.410000																									GMDS/PDE8B(2)	0				40						c.(2191-2193)aaA>aaC		phosphodiesterase 8B	Caffeine(DB00201)|Ketotifen(DB00920)						128.0	109.0	116.0					5																	76715655		2203	4300	6503	SO:0001583	missense	8622	1	121412	33				g.chr5:76715655A>C	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.2193A>C	chr5.hg19:g.76715655A>C	ENSP00000264917:p.Lys731Asn	0					PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N	p.K731N	NM_003719.3	NP_003710.1	1	2	3	2.006602	O95263	PDE8B_HUMAN		19	2238	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	1	1	hg19	c.2193A>C	CCDS4037.1	0	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065729	0.55539	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.87	3.53	0.40419	5.87	3.53	0.40419	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043664	0.85682	D	0.000000	T	0.72819	0.3508	L	0.38838	1.175	0.46521	D	0.999086	B;P;P;P;P	0.46706	0.27;0.858;0.596;0.858;0.883	B;P;B;P;P	0.50754	0.145;0.517;0.259;0.517;0.649	T	0.71955	-0.4436	10	0.59425	D	0.04	.	5.9761	0.19379	0.6459:0.0:0.3541:0.0	.	634;684;676;711;731	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	684;634;731;711;676;196	ENSP00000345446:K684N;ENSP00000330428:K634N;ENSP00000264917:K731N;ENSP00000345646:K711N;ENSP00000331336:K676N;ENSP00000423461:K196N	ENSP00000264917:K731N	K	+	3	2	2	PDE8B	76751411	76751411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.847000	0.39299	1.054000	0.40438	0.533000	0.62120	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-14.088570	1	0.170000	NM_003719			14	14		384	380	0		1	0		0	0	69	0		9.997477e-01	1.346961e-01	0	0	0	17	0	14	384
WDR41	55255	broad.mit.edu	37	5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A	rs542320192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000507029.1_Missense_Mutation_p.R58I|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	113						lysosomal membrane (GO:0005765)				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)		AATAACTGTTCTATCAGCAGA	0.383																																						ENST00000296679.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(337-339)aGa>aTa		WD repeat domain 41							89.0	89.0	89.0					5																	76758930		2203	4300	6503	SO:0001583	missense	55255	0	0					g.chr5:76758930C>A	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.338G>T	chr5.hg19:g.76758930C>A	ENSP00000296679:p.Arg113Ile	0					WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	p.R113I	NM_018268.2	NP_060738.2	1	2	3	2.006602	Q9HAD4	WDR41_HUMAN		4	713	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	1	1	hg19	c.338G>T	CCDS4038.1	1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676484	0.67928	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.81	0.884	0.19182	5.81	0.884	0.19182	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194541	0.53938	D	0.000045	T	0.74861	0.3772	M	0.93550	3.43	0.80722	D	1	P;D	0.55800	0.896;0.973	P;P	0.58210	0.603;0.835	T	0.75560	-0.3275	10	0.59425	D	0.04	-5.7762	9.5332	0.39207	0.0:0.5816:0.0:0.4184	.	58;113	B4DT55;Q9HAD4	.;WDR41_HUMAN	I	113;106;58;113;108;105;110	ENSP00000296679:R113I;ENSP00000426499:R106I;ENSP00000424287:R58I;ENSP00000426937:R113I;ENSP00000422510:R108I;ENSP00000426141:R105I;ENSP00000422922:R110I	ENSP00000296679:R113I	R	-	2	0	0	WDR41	76794686	76794686	0.999000	0.42202	0.709000	0.30452	0.972000	0.66771	0.551000	0.23361	-0.120000	0.11809	-0.312000	0.09012	AGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.115830	1	0.170000	NM_018268			34	33		161	160	1		1	1		0	0	51	0		1	1	0	18	0	124	0	34	161
OTP	23440	broad.mit.edu	37	5	76926430	76926430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	ENST00000306422.3	-	3	1775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	213	Poly-Ala.				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)			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)		CCAGGCATGGCGGCCGCCGCC	0.751																																						ENST00000306422.3	1.000000	0.790000	1	9.900000e-01	0.990000	0.987349	0.990000	1.000000																										0				13						c.(637-639)Gcc>Acc		orthopedia homeobox							3.0	4.0	3.0					5																	76926430		1548	3330	4878	SO:0001583	missense	23440	0	0					g.chr5:76926430C>T		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.637G>A	chr5.hg19:g.76926430C>T	ENSP00000302814:p.Ala213Thr	0						p.A213T	NM_032109.2	NP_115485.1	1	2	3	2.006602	Q5XKR4	OTP_HUMAN		3	1775	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		Missense_Mutation	SNP	ENST00000306422.3	0	1	hg19	c.637G>A	CCDS4039.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404441	0.62288	.	.	ENSG00000171540	ENST00000306422	D	0.92249	-3.0	3.62	3.62	0.41486	3.62	3.62	0.41486	.	0.138675	0.47093	D	0.000256	D	0.82518	0.5054	L	0.29908	0.895	0.35238	D	0.777562	P	0.44734	0.842	B	0.26310	0.068	D	0.85458	0.1165	10	0.20046	T	0.44	.	15.0675	0.72008	0.0:1.0:0.0:0.0	.	213	Q5XKR4	OTP_HUMAN	T	213	ENSP00000302814:A213T	ENSP00000302814:A213T	A	-	1	0	0	OTP	76962186	76962186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.032000	0.41127	1.846000	0.53633	0.436000	0.28706	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	1	0	0		2	2	2	0		0	0	9		9	7	1	2.060000	-14.805490	1	0.170000				7	7		39	36	0		1			0	0	9	0		9.789249e-01	0	0	0	0	0	0	7	39
OTP	23440	broad.mit.edu	37	5	76933016	76933016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	ENST00000306422.3	-	2	1215	c.77C>T	c.(76-78)gCg>gTg	p.A26V	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	26					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)			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)		ACACTTCACCGCCTCCCGGTG	0.677																																						ENST00000306422.3	1.000000	0.600000	1	9.300000e-01	0.990000	0.960580	0.990000	1.000000																										0				13						c.(76-78)gCg>gTg		orthopedia homeobox							5.0	6.0	6.0					5																	76933016		2143	4209	6352	SO:0001583	missense	23440	0	0					g.chr5:76933016G>A		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.77C>T	chr5.hg19:g.76933016G>A	ENSP00000302814:p.Ala26Val	0					OTP_ENST00000515716.1_5'Flank	p.A26V	NM_032109.2	NP_115485.1	1	2	3	2.006602	Q5XKR4	OTP_HUMAN		2	1215	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		Missense_Mutation	SNP	ENST00000306422.3	0	1	hg19	c.77C>T	CCDS4039.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.815738	0.96982	.	.	ENSG00000171540	ENST00000306422	D	0.92348	-3.02	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.063719	0.64402	D	0.000009	D	0.91202	0.7228	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.52189	0.692	D	0.92173	0.5745	10	0.66056	D	0.02	.	19.2874	0.94084	0.0:0.0:1.0:0.0	.	26	Q5XKR4	OTP_HUMAN	V	26	ENSP00000302814:A26V	ENSP00000302814:A26V	A	-	2	0	0	OTP	76968772	76968772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.218000	0.95166	2.732000	0.93576	0.655000	0.94253	GCG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-12.461670	1	0.170000				6	6		45	42	0		1			0	0	8	0		9.614473e-01	0	0	0	0	0	0	6	45
AP3B1	8546	broad.mit.edu	37	5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000255194.6	-	26	3272	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1033					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)			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)		GGGACTGCACCTACATTGGCT	0.388									Hermansky-Pudlak syndrome																													ENST00000255194.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3097-3099)Ggt>Tgt		adaptor-related protein complex 3, beta 1 subunit							122.0	116.0	118.0					5																	77311268		2203	4300	6503	SO:0001583	missense	8546	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr5:77311268C>A	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.3097G>T	chr5.hg19:g.77311268C>A	ENSP00000255194:p.Gly1033Cys	0					AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	p.G1033C	NM_001271769.1	NP_001258698.1	1	2	3	2.006602	O00203	AP3B1_HUMAN		26	3272	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	1	1	hg19	c.3097G>T	CCDS4041.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268917|3.268917	0.59540|0.59540	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.33|5.33	5.33|5.33	0.75918|0.75918	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.057286|.	0.64402|.	D|.	0.000002|.	T|.	0.73946|.	0.3652|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51449|.	0.945|.	P|.	0.52823|.	0.71|.	T|.	0.72207|.	-0.4360|.	10|.	0.48119|.	T|.	0.1|.	-12.4687|-12.4687	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1033|.	O00203|.	AP3B1_HUMAN|.	C|Y	1033;984|132	ENSP00000255194:G1033C;ENSP00000430597:G984C|.	ENSP00000255194:G1033C|.	G|X	-|-	1|3	0|2	0|2	AP3B1|AP3B1	77347024|77347024	77347024|77347024	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.514000|0.514000	0.34195|0.34195	6.492000|6.492000	0.73654|0.73654	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GGT|TAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.036906	1	0.170000				99	97		446	439	1		1	1		0	0	91	0		1	1	0	33	0	161	0	99	446
AP3B1	8546	broad.mit.edu	37	5	77423893	77423893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000255194.6	-	17	2104	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AP3B1_ENST00000519295.1_Silent_p.A594A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	643					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)			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)		ATGGGTCGGGCGCCACCTCTG	0.398									Hermansky-Pudlak syndrome																													ENST00000255194.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1927-1929)gcG>gcA		adaptor-related protein complex 3, beta 1 subunit							77.0	80.0	79.0					5																	77423893		2203	4300	6503	SO:0001819	synonymous_variant	8546	2	121412	33	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr5:77423893C>T	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.1929G>A	chr5.hg19:g.77423893C>T		0					AP3B1_ENST00000519295.1_Silent_p.A594A	p.A643A	NM_001271769.1	NP_001258698.1	1	2	3	2.006602	O00203	AP3B1_HUMAN		17	2104	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	1	1	hg19	c.1929G>A	CCDS4041.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.052077	1	0.170000				81	78		387	380	1		1	1		0	0	69	0		1	1	0	64	0	123	0	81	387
AP3B1	8546	broad.mit.edu	37	5	77458776	77458776	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000255194.6	-	13	1406		c.e13-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			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)		TCACATAGGTCTAAAAGATAT	0.348									Hermansky-Pudlak syndrome																													ENST00000255194.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.e13-1		adaptor-related protein complex 3, beta 1 subunit							88.0	86.0	87.0					5																	77458776		2203	4299	6502	SO:0001630	splice_region_variant	8546	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr5:77458776C>A	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.1231-1G>T	chr5.hg19:g.77458776C>A		0					AP3B1_ENST00000519295.1_Splice_Site		NM_001271769.1	NP_001258698.1	1	2	3	2.006602	O00203	AP3B1_HUMAN		13	1406	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	SNP	ENST00000255194.6	1	1	hg19		CCDS4041.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543789	0.86022	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	AP3B1	77494532	77494532	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.728000	0.93425	0.650000	0.86243	.	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.343882	1	0.170000		Intron		76	74		372	367	1		1			0	0	69	0		1	0	0	0	0	0	0	76	372
AP3B1	8546	broad.mit.edu	37	5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000255194.6	-	9	1212	c.1037A>C	c.(1036-1038)aAt>aCt	p.N346T	AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	346					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)			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)		GACCTACCTATTGCTACGAAG	0.323									Hermansky-Pudlak syndrome																													ENST00000255194.6	1.000000	0.170000	5.100000e-01	2.400000e-01	0.350000	0.406076	0.350000	0.330000																										0				39						c.(1036-1038)aAt>aCt		adaptor-related protein complex 3, beta 1 subunit							97.0	93.0	94.0					5																	77473166		2203	4300	6503	SO:0001583	missense	8546	0	0		Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr5:77473166T>G	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.1037A>C	chr5.hg19:g.77473166T>G	ENSP00000255194:p.Asn346Thr	0					AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	p.N346T	NM_001271769.1	NP_001258698.1	1	2	3	2.006602	O00203	AP3B1_HUMAN		9	1212	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	1	1	hg19	c.1037A>C	CCDS4041.1	0	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516823	0.64634	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25414	1.8;1.8	5.45	3.06	0.35304	5.45	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.185075	0.56097	D	0.000025	T	0.25606	0.0623	L	0.29908	0.895	0.40808	D	0.983395	P	0.38223	0.623	P	0.46452	0.517	T	0.04737	-1.0930	10	0.66056	D	0.02	.	9.6986	0.40171	0.0:0.1412:0.0:0.8588	.	346	O00203	AP3B1_HUMAN	T	346;297;346;250	ENSP00000255194:N346T;ENSP00000430597:N297T	ENSP00000255194:N346T	N	-	2	0	0	AP3B1	77508922	77508922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.981000	0.56902	0.376000	0.24707	0.402000	0.26972	AAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-9.889710	1	0.170000				9	9		314	308	0		1	1		0	0	55	0		9.938841e-01	8.901874e-01	0	8	0	131	0	9	314
LHFPL2	10184	broad.mit.edu	37	5	77805796	77805796	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77805796G>A	ENST00000515007.2	-	2	551	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	LHFPL2_ENST00000380345.2_Silent_p.L81L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	81						integral component of membrane (GO:0016021)				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)		GGCCCGCACAGCGTGTCCCGC	0.672																																						ENST00000515007.2	1.000000	0.140000	6.300000e-01	2.400000e-01	0.390000	0.447640	0.390000	0.340000																										0				6						c.(241-243)Ctg>Ttg		lipoma HMGIC fusion partner-like 2							22.0	23.0	23.0					5																	77805796		2203	4299	6502	SO:0001819	synonymous_variant	10184	0	0					g.chr5:77805796G>A	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.241C>T	chr5.hg19:g.77805796G>A		0					LHFPL2_ENST00000380345.2_Silent_p.L81L	p.L81L			1	2	3	2.006602	Q6ZUX7	LHPL2_HUMAN		2	551	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	0	1	hg19	c.241C>T	CCDS4042.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-7.665976	1	0.170000	NM_005779			5	5		164	160	0		1	0		0	0	25	0		9.344931e-01	7.402909e-01	0	0	0	85	0	5	164
ARSB	411	broad.mit.edu	37	5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	197					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(589-591)cGa>cAa		arylsulfatase B							97.0	87.0	90.0					5																	78260339		2203	4300	6503	SO:0001583	missense	411	1	121412	34				g.chr5:78260339C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.590G>A	chr5.hg19:g.78260339C>T	ENSP00000264914:p.Arg197Gln	0					ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	p.R197Q	NM_000046.3	NP_000037.2	1	2	3	2.006602	P15848	ARSB_HUMAN		3	1126	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	1	1	hg19	c.590G>A	CCDS4043.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.176424	0.94846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96587	-4.06;-4.06	5.36	5.36	0.76844	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065278	0.64402	D	0.000008	D	0.97501	0.9182	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.835	D	0.97063	0.9772	10	0.41790	T	0.15	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	197;197	Q8N322;P15848	.;ARSB_HUMAN	Q	197	ENSP00000264914:R197Q;ENSP00000379455:R197Q	ENSP00000264914:R197Q	R	-	2	0	0	ARSB	78296095	78296095	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.177000	0.77650	2.662000	0.90505	0.650000	0.86243	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.279901	1	0.170000	NM_000046			61	61		237	235	1		1	1		0	0	59	0		1	9.999970e-01	0	5	0	71	0	61	237
ARSB	411	broad.mit.edu	37	5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	161					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.996940	0.990000	1.000000																										0				18						c.(481-483)Gga>Tga		arylsulfatase B							127.0	124.0	125.0					5																	78264847		2203	4300	6503	SO:0001587	stop_gained	411	0	0					g.chr5:78264847C>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.481G>T	chr5.hg19:g.78264847C>A	ENSP00000264914:p.Gly161*	0					ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	p.G161*	NM_000046.3	NP_000037.2	1	2	3	2.006602	P15848	ARSB_HUMAN		2	1017	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	B2RC20|Q8N322|Q9UDI9	Nonsense_Mutation	SNP	ENST00000264914.4	0	1	hg19	c.481G>T	CCDS4043.1	1	.	.	.	.	.	.	.	.	.	.	C	44	11.112110	0.99517	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000264914:G161X	G	-	1	0	0	ARSB	78300603	78300603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.894000	0.99253	0.655000	0.94253	GGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-18.805480	1	0.170000	NM_000046			62	58		545	522	0		1	0		0	0	145	0		1	9.691466e-01	0	0	0	51	0	62	545
DMGDH	29958	broad.mit.edu	37	5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	480					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)			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)		GGAACACTTAGACTCCAGCCT	0.507																																						ENST00000255189.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1438-1440)tCt>tTt		dimethylglycine dehydrogenase							128.0	131.0	130.0					5																	78328588		2203	4300	6503	SO:0001583	missense	29958	0	0					g.chr5:78328588G>A	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.1439C>T	chr5.hg19:g.78328588G>A	ENSP00000255189:p.Ser480Phe	0					DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	p.S480F	NM_013391.2	NP_037523.2	1	2	3	2.006602	Q9UI17	M2GD_HUMAN		9	1467	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	1	1	hg19	c.1439C>T	CCDS4044.1	1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828160	0.50845	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.351137	0.32836	N	0.005583	T	0.79082	0.4386	N	0.24115	0.695	0.29117	N	0.88048	P;P;P;P	0.48089	0.833;0.905;0.739;0.621	B;P;B;B	0.46110	0.252;0.504;0.382;0.212	T	0.77286	-0.2644	10	0.56958	D	0.05	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	100;279;330;480	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	480;319;279;100;330	ENSP00000255189:S480F;ENSP00000430972:S319F;ENSP00000369667:S279F;ENSP00000439478:S100F	ENSP00000255189:S480F	S	-	2	0	0	DMGDH	78364344	78364344	0.992000	0.36948	0.669000	0.29828	0.682000	0.39822	4.265000	0.58865	2.465000	0.83290	0.655000	0.94253	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1		2	2	2	0		0	0	185		185	182	1	2.060000	-20.000000	1	0.170000	NM_013391			197	195		747	727	1		1	0		0	0	185	0		1	5.229660e-01	0	0	0	8	0	197	747
DMGDH	29958	broad.mit.edu	37	5	78338189	78338189	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	370					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)			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)		ACGTGATAGGACCATTGACAA	0.453																																						ENST00000255189.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1108-1110)ggT>ggA		dimethylglycine dehydrogenase							122.0	111.0	114.0					5																	78338189		2203	4300	6503	SO:0001819	synonymous_variant	29958	0	0					g.chr5:78338189A>T	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.1110T>A	chr5.hg19:g.78338189A>T		0					DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	p.G370G	NM_013391.2	NP_037523.2	1	2	3	2.006602	Q9UI17	M2GD_HUMAN		7	1138	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	1	1	hg19	c.1110T>A	CCDS4044.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.376040	1	0.170000	NM_013391			62	60		293	288	1		1			0	0	67	0		1	0	0	0	0	0	0	62	293
DMGDH	29958	broad.mit.edu	37	5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	303					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)			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)		CCATCCCTTTCCTGTCGGAGA	0.443																																						ENST00000255189.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(907-909)Gaa>Aaa		dimethylglycine dehydrogenase							131.0	118.0	122.0					5																	78340214		2203	4300	6503	SO:0001583	missense	29958	0	0					g.chr5:78340214C>T	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.907G>A	chr5.hg19:g.78340214C>T	ENSP00000255189:p.Glu303Lys	0					DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	p.E303K	NM_013391.2	NP_037523.2	1	2	3	2.006602	Q9UI17	M2GD_HUMAN		6	935	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	1	1	hg19	c.907G>A	CCDS4044.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.195254	0.94960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.33865	1.39;1.39;1.39	5.74	4.88	0.63580	5.74	4.88	0.63580	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.91140	3.18	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.992	D;P;D	0.74023	0.982;0.897;0.937	T	0.76127	-0.3073	10	0.72032	D	0.01	.	14.797	0.69884	0.0:0.9308:0.0:0.0692	.	102;153;303	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	K	303;142;102;153	ENSP00000255189:E303K;ENSP00000430972:E142K;ENSP00000369667:E102K	ENSP00000255189:E303K	E	-	1	0	0	DMGDH	78375970	78375970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	1.440000	0.47531	0.650000	0.86243	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_013391			99	96		400	394	1		1			0	0	115	0		1	0	0	0	0	0	0	99	400
DMGDH	29958	broad.mit.edu	37	5	78351653	78351653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000520388.1_5'Flank|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	119					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)			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)		TCTTCTTCCAGTTTCTCATAA	0.353																																						ENST00000255189.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				34						c.(355-357)Ctg>Ttg		dimethylglycine dehydrogenase							93.0	96.0	95.0					5																	78351653		2202	4298	6500	SO:0001819	synonymous_variant	29958	0	0					g.chr5:78351653G>A	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.355C>T	chr5.hg19:g.78351653G>A		0					DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000520388.1_5'Flank	p.L119L	NM_013391.2	NP_037523.2	1	2	3	2.006602	Q9UI17	M2GD_HUMAN		3	383	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	1	1	hg19	c.355C>T	CCDS4044.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_013391			31	30		152	149	0		1	0		0	0	37	0		1	8.090671e-02	0	0	0	3	0	31	152
BHMT2	23743	broad.mit.edu	37	5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T	rs374403176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000255192.3	+	4	363	c.297G>T	c.(295-297)agG>agT	p.R99S	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	99	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)			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)	ACCTCGCCAGGGAAGTGGCTG	0.438																																						ENST00000255192.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(295-297)agG>agT		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						112.0	115.0	114.0					5																	78376548		2203	4300	6503	SO:0001583	missense	23743	0	0					g.chr5:78376548G>T		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.297G>T	chr5.hg19:g.78376548G>T	ENSP00000255192:p.Arg99Ser	0					BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	p.R99S	NM_017614.4	NP_060084.2	1	2	3	2.006602	Q9H2M3	BHMT2_HUMAN		4	363	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	1	1	hg19	c.297G>T	CCDS4045.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088877	0.55968	.	.	ENSG00000132840	ENST00000255192;ENST00000518666	T;T	0.40476	1.03;1.03	6.16	1.31	0.21738	6.16	1.31	0.21738	Homocysteine S-methyltransferase (4);	0.151545	0.56097	D	0.000024	T	0.45054	0.1323	M	0.79693	2.465	0.80722	D	1	B	0.31519	0.327	B	0.35607	0.206	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.7479	9.095	0.36634	0.6855:0.0:0.3145:0.0	.	99	Q9H2M3	BHMT2_HUMAN	S	99;39	ENSP00000255192:R99S;ENSP00000428640:R39S	ENSP00000255192:R99S	R	+	3	2	2	BHMT2	78412304	78412304	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	1.262000	0.32992	0.123000	0.18342	0.650000	0.86243	AGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-3.201487	1	0.170000	NM_017614			123	118		528	517	1		1	0		0	0	138	0		1	7.352180e-01	0	0	0	13	0	123	528
BHMT	635	broad.mit.edu	37	5	78416175	78416175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	96	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)			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)	CATTTTAGGGGCAGGAAGTCA	0.383																																						ENST00000274353.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(286-288)ggG>ggA		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						50.0	50.0	50.0					5																	78416175		2203	4300	6503	SO:0001819	synonymous_variant	635	0	0					g.chr5:78416175G>A	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.288G>A	chr5.hg19:g.78416175G>A		0					BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	p.G96G	NM_001713.2	NP_001704.2	1	2	3	2.006602	Q93088	BHMT1_HUMAN		4	395	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	Q9UNI9	Silent	SNP	ENST00000274353.5	1	1	hg19	c.288G>A	CCDS4046.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	1	0	1		2	2	2	0		0	0	37		37	34	1	2.060000	-20.000000	1	0.170000	NM_001713			37	37		150	149	1		1	0		0	0	37	0		1	0	0	1	0	0	0	37	150
JMY	133746	broad.mit.edu	37	5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	945					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413																																						ENST00000396137.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2833-2835)Gaa>Taa		junction mediating and regulatory protein, p53 cofactor							89.0	83.0	85.0					5																	78611996		1872	4109	5981	SO:0001587	stop_gained	133746	0	0					g.chr5:78611996G>T	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.2833G>T	chr5.hg19:g.78611996G>T	ENSP00000379441:p.Glu945*	0					JMY_ENST00000412001.1_Intron	p.E945*	NM_152405.4	NP_689618.4	1	2	3	2.006602	Q8N9B5	JMY_HUMAN		10	3295	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	ENST00000396137.4	0	1	hg19	c.2833G>T	CCDS4047.3	1	.	.	.	.	.	.	.	.	.	.	G	45	11.392913	0.99555	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.393126	0.29631	N	0.011607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.7184	0.96132	0.0:0.0:1.0:0.0	.	.	.	.	X	934;945	.	ENSP00000282259:E934X	E	+	1	0	0	JMY	78647752	78647752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.921000	0.63397	2.672000	0.90937	0.643000	0.83706	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_152405			54	54		168	163	1		1	0		0	0	42	0		1	9.790268e-01	0	0	0	22	0	54	168
HOMER1	9456	broad.mit.edu	37	5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	271					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)			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)		ATTTCTTGTTTTAACCTTTCT	0.348																																						ENST00000334082.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				14						c.(811-813)Aaa>Caa		homer homolog 1 (Drosophila)							126.0	112.0	117.0					5																	78692711		1822	4082	5904	SO:0001583	missense	9456	0	0					g.chr5:78692711T>G	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.811A>C	chr5.hg19:g.78692711T>G	ENSP00000334382:p.Lys271Gln	0					HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron	p.K271Q	NM_004272.3	NP_004263.1	1	2	3	2.006602	Q86YM7	HOME1_HUMAN		8	2253	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	1	1	hg19	c.811A>C	CCDS43335.1	1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675262	0.67928	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.76578	-1.03;3.33;-1.03	5.63	4.46	0.54185	5.63	4.46	0.54185	.	0.041017	0.85682	D	0.000000	T	0.76723	0.4027	L	0.29908	0.895	0.51767	D	0.999936	D;B;P	0.63046	0.992;0.029;0.615	P;B;B	0.55923	0.787;0.064;0.269	T	0.78048	-0.2356	10	0.66056	D	0.02	-8.3933	11.4933	0.50394	0.1348:0.0:0.0:0.8652	.	97;141;271	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	Q	271;141;97	ENSP00000334382:K271Q;ENSP00000282260:K141Q;ENSP00000441587:K97Q	ENSP00000282260:K141Q	K	-	1	0	0	HOMER1	78728467	78728467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	1.046000	0.40249	0.533000	0.62120	AAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-17.648310	1	0.170000	NM_004272			25	25		97	95	1		1	1		0	0	21	0		9.999999e-01	9.885007e-01	0	11	0	20	0	25	97
CMYA5	202333	broad.mit.edu	37	5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	530	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)				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)		AGTAGAAGAAGAGATCGTAGA	0.418																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(1588-1590)Gag>Aag		cardiomyopathy associated 5							107.0	103.0	104.0					5																	79026176		1853	4096	5949	SO:0001583	missense	202333	0	0					g.chr5:79026176G>A	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.1588G>A	chr5.hg19:g.79026176G>A	ENSP00000394770:p.Glu530Lys	0						p.E530K	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	1619	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.1588G>A	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.63913	-0.07	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.468598	0.18174	N	0.149369	T	0.61223	0.2330	L	0.36672	1.1	0.26789	N	0.969444	P	0.49253	0.921	P	0.49451	0.611	T	0.60332	-0.7284	10	0.87932	D	0	.	12.5436	0.56186	0.0759:0.0:0.9241:0.0	.	530	Q8N3K9	CMYA5_HUMAN	K	530	ENSP00000394770:E530K	ENSP00000394770:E530K	E	+	1	0	0	CMYA5	79061932	79061932	0.821000	0.29204	0.992000	0.48379	0.523000	0.34469	1.409000	0.34680	2.758000	0.94735	0.563000	0.77884	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-20.000000	1	0.170000	NM_153610			127	125		469	463	1		1			0	0	116	0		1	0	0	0	0	0	0	127	469
CMYA5	202333	broad.mit.edu	37	5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G	rs369615786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	758					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)				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)		CTCACCATCCACAACCGAAAA	0.502																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(2272-2274)Aca>Gca		cardiomyopathy associated 5							71.0	71.0	71.0					5																	79026860		2021	4195	6216	SO:0001583	missense	202333	0	0					g.chr5:79026860A>G	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.2272A>G	chr5.hg19:g.79026860A>G	ENSP00000394770:p.Thr758Ala	0						p.T758A	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	2303	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.2272A>G	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189741	0.38707	.	.	ENSG00000164309	ENST00000446378	T	0.38240	1.15	5.41	-3.34	0.04943	5.41	-3.34	0.04943	.	0.323199	0.22299	N	0.061897	T	0.26919	0.0659	L	0.58583	1.82	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.17745	-1.0359	10	0.38643	T	0.18	.	7.2841	0.26328	0.2766:0.5002:0.2232:0.0	.	758	Q8N3K9	CMYA5_HUMAN	A	758	ENSP00000394770:T758A	ENSP00000394770:T758A	T	+	1	0	0	CMYA5	79062616	79062616	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.654000	0.05354	-0.459000	0.07013	-0.263000	0.10527	ACA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_153610			69	67		314	303	1		1	0		0	0	75	0		1	0	0	0	0	1	0	69	314
CMYA5	202333	broad.mit.edu	37	5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1617					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)				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)		CTTTGGCAGAGCTGTCTTTGG	0.443																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(4849-4851)gaG>gaT		cardiomyopathy associated 5							95.0	96.0	96.0					5																	79029439		1871	4105	5976	SO:0001583	missense	202333	0	0					g.chr5:79029439G>T	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.4851G>T	chr5.hg19:g.79029439G>T	ENSP00000394770:p.Glu1617Asp	0						p.E1617D	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	4882	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.4851G>T	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079586	0.36662	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.08	-2.29	0.06805	5.08	-2.29	0.06805	.	1.025470	0.07765	N	0.950714	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.19946	0.027	T	0.47598	-0.9105	10	0.72032	D	0.01	.	0.5008	0.00579	0.2705:0.1329:0.326:0.2706	.	1617	Q8N3K9	CMYA5_HUMAN	D	1617	ENSP00000394770:E1617D	ENSP00000394770:E1617D	E	+	3	2	2	CMYA5	79065195	79065195	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-0.064000	0.13043	-0.140000	0.14226	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-20.000000	1	0.170000	NM_153610			110	104		407	395	1		1	0		0	0	115	0		1	4.606492e-02	0	0	0	2	0	110	407
CMYA5	202333	broad.mit.edu	37	5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2111					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)				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)		GTTCAGTCAAAGGTTATTGAT	0.433																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(6331-6333)aAg>aCg		cardiomyopathy associated 5							58.0	56.0	57.0					5																	79030920		1895	4120	6015	SO:0001583	missense	202333	0	0					g.chr5:79030920A>C	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.6332A>C	chr5.hg19:g.79030920A>C	ENSP00000394770:p.Lys2111Thr	0						p.K2111T	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	6363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.6332A>C	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	A	8.762	0.923752	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.94	4.78	0.61160	5.94	4.78	0.61160	.	0.119868	0.37761	N	0.001947	T	0.12220	0.0297	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.48304	0.573	T	0.10382	-1.0632	10	0.72032	D	0.01	.	8.7785	0.34776	0.9151:0.0:0.0849:0.0	.	2111	Q8N3K9	CMYA5_HUMAN	T	2111	ENSP00000394770:K2111T	ENSP00000394770:K2111T	K	+	2	0	0	CMYA5	79066676	79066676	0.242000	0.23868	0.023000	0.16930	0.061000	0.15899	3.126000	0.50477	1.069000	0.40788	0.528000	0.53228	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_153610			67	64		237	229	1		1	0		0	0	74	0		1	4.994571e-02	0	0	0	2	0	67	237
CMYA5	202333	broad.mit.edu	37	5	79031203	79031203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2205					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)				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)		TAGAAACACAGCCAAGTCCAT	0.393																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(6613-6615)caG>caA		cardiomyopathy associated 5							104.0	102.0	103.0					5																	79031203		1887	4113	6000	SO:0001819	synonymous_variant	202333	0	0					g.chr5:79031203G>A	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.6615G>A	chr5.hg19:g.79031203G>A		0						p.Q2205Q	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	6646	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	1	1	hg19	c.6615G>A	CCDS47238.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000	NM_153610			124	123		497	491	1		1	0		0	0	134	0		1	0	0	0	0	1	0	124	497
CMYA5	202333	broad.mit.edu	37	5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2523					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)				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)		AATGAAGACTACAATGAAAGA	0.373																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(7567-7569)tAc>tGc		cardiomyopathy associated 5							63.0	60.0	61.0					5																	79032156		1854	4095	5949	SO:0001583	missense	202333	0	0					g.chr5:79032156A>G	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.7568A>G	chr5.hg19:g.79032156A>G	ENSP00000394770:p.Tyr2523Cys	0						p.Y2523C	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	7599	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.7568A>G	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	A	5.166	0.216253	0.09810	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.99	4.81	0.61882	5.99	4.81	0.61882	.	1.389500	0.04363	N	0.357746	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16041	-1.0416	10	0.35671	T	0.21	.	6.6843	0.23136	0.6888:0.1537:0.0:0.1575	.	2523	Q8N3K9	CMYA5_HUMAN	C	2523	ENSP00000394770:Y2523C	ENSP00000394770:Y2523C	Y	+	2	0	0	CMYA5	79067912	79067912	0.024000	0.19004	0.947000	0.38551	0.017000	0.09413	2.820000	0.48057	1.045000	0.40225	0.533000	0.62120	TAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_153610			37	37		146	145	1		1			0	0	39	0		1	0	0	0	0	0	0	37	146
CMYA5	202333	broad.mit.edu	37	5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3252					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)				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)		CATGACACATCTCTAACTCAA	0.423																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				128						c.(9754-9756)tCt>tAt		cardiomyopathy associated 5							78.0	76.0	77.0					5																	79034343		1891	4117	6008	SO:0001583	missense	202333	0	0					g.chr5:79034343C>A	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.9755C>A	chr5.hg19:g.79034343C>A	ENSP00000394770:p.Ser3252Tyr	0						p.S3252Y	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	9786	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	1	1	hg19	c.9755C>A	CCDS47238.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450866	0.43531	.	.	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.78	4.9	0.64082	5.78	4.9	0.64082	.	0.275088	0.26428	N	0.024434	T	0.39253	0.1071	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.40590	-0.9555	10	0.87932	D	0	.	4.5866	0.12285	0.1603:0.602:0.1544:0.0834	.	3252	Q8N3K9	CMYA5_HUMAN	Y	3252	ENSP00000394770:S3252Y	ENSP00000394770:S3252Y	S	+	2	0	0	CMYA5	79070099	79070099	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.886000	0.28241	1.426000	0.47256	0.655000	0.94253	TCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	0	1		13	2	2	1		1	1	75		75	74	1	2.060000	-3.235754	1	0.170000	NM_153610			38	36		211	208	1		1	0		1	0	75	0		9.999364e-01	1.761639e-01	0	0	0	5	0	38	211
CMYA5	202333	broad.mit.edu	37	5	79034527	79034527	+	Silent	SNP	C	C	T	rs373289361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3313					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)				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)		ATGTGGAGACCGTTGGTAACG	0.468																																						ENST00000446378.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(9937-9939)acC>acT		cardiomyopathy associated 5							110.0	112.0	111.0					5																	79034527		2037	4187	6224	SO:0001819	synonymous_variant	202333	0	0					g.chr5:79034527C>T	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.9939C>T	chr5.hg19:g.79034527C>T		0						p.T3313T	NM_153610.3	NP_705838.3	1	2	3	2.006602	Q8N3K9	CMYA5_HUMAN		2	9970	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	1	1	hg19	c.9939C>T	CCDS47238.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-2.355686	0	0.170000	NM_153610			78	74		351	348	1		1	0		0	0	108	0		1	8.913097e-02	0	0	0	3	0	78	351
THBS4	7060	broad.mit.edu	37	5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000350881.2	+	17	2363	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	THBS4_ENST00000511733.1_Missense_Mutation_p.V634I|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	725					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592																																						ENST00000350881.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999284	0.990000	1.000000																										0				34						c.(2173-2175)Gtc>Atc		thrombospondin 4							100.0	79.0	86.0					5																	79373958		2203	4300	6503	SO:0001583	missense	7060	0	0					g.chr5:79373958G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2173G>A	chr5.hg19:g.79373958G>A	ENSP00000339730:p.Val725Ile	0					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	p.V725I	NM_003248.4	NP_003239.2	1	2	3	2.006602	P35443	TSP4_HUMAN		17	2363	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	1	1	hg19	c.2173G>A	CCDS4049.1	1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216344	0.09810	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98234	-4.81;-4.81	5.23	3.34	0.38264	5.23	3.34	0.38264	.	0.181790	0.49305	N	0.000147	D	0.91680	0.7370	N	0.11756	0.17	0.31040	N	0.716376	B	0.02656	0.0	B	0.04013	0.001	D	0.83962	0.0322	10	0.02654	T	1	-21.7943	5.9809	0.19407	0.5442:0.0:0.4558:0.0	.	725	P35443	TSP4_HUMAN	I	725;634	ENSP00000339730:V725I;ENSP00000422298:V634I	ENSP00000339730:V725I	V	+	1	0	0	THBS4	79409714	79409714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.753000	0.38359	0.780000	0.33566	0.655000	0.94253	GTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				18	18		100	100	1		1	0		0	0	23	0		9.999893e-01	1	0	0	0	196	0	18	100
SPZ1	84654	broad.mit.edu	37	5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	311	Leucine-zipper.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		AAGAAACTGAGCCATGACACC	0.433																																						ENST00000296739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(931-933)aGc>aAc		spermatogenic leucine zipper 1							124.0	121.0	122.0					5																	79616966		1928	4132	6060	SO:0001583	missense	84654	0	0					g.chr5:79616966G>A		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.932G>A	chr5.hg19:g.79616966G>A	ENSP00000369611:p.Ser311Asn	0						p.S311N	NM_032567.3	NP_115956.3	1	2	3	2.006602	Q9BXG8	SPZ1_HUMAN		1	1177	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	1	1	hg19	c.932G>A	CCDS43336.1	1	.	.	.	.	.	.	.	.	.	.	G	6.083	0.383628	0.11524	.	.	ENSG00000164299	ENST00000296739	T	0.30714	1.52	4.4	0.319	0.15873	4.4	0.319	0.15873	.	1.382680	0.04413	N	0.366357	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22906	-1.0203	10	0.27082	T	0.32	-10.4049	7.5922	0.28027	0.6711:0.0:0.3289:0.0	.	311	Q9BXG8	SPZ1_HUMAN	N	311	ENSP00000369611:S311N	ENSP00000369611:S311N	S	+	2	0	0	SPZ1	79652722	79652722	0.014000	0.17966	0.000000	0.03702	0.007000	0.05969	0.609000	0.24238	0.051000	0.15978	-0.262000	0.10625	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_032567			86	84		416	410	1		1			0	0	95	0		1	0	0	0	0	0	0	86	416
ZFYVE16	9765	broad.mit.edu	37	5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	72					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)			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)		TCAGAAACAAGCTATGGAACA	0.393																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(214-216)aGc>aTc		zinc finger, FYVE domain containing 16							71.0	69.0	70.0					5																	79732719		2203	4300	6503	SO:0001583	missense	9765	0	0					g.chr5:79732719G>T	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.215G>T	chr5.hg19:g.79732719G>T	ENSP00000337159:p.Ser72Ile	0					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	1	2	3	2.006602	Q7Z3T8	ZFY16_HUMAN		3	395	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	1	1	hg19	c.215G>T	CCDS4050.1	1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36699	1.24;1.24;1.24	5.31	4.36	0.52297	5.31	4.36	0.52297	.	0.596060	0.16043	N	0.232353	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.10520	-1.0626	10	0.25751	T	0.34	-0.7589	7.1536	0.25624	0.0:0.1395:0.5735:0.2871	.	72;72	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	72	ENSP00000337159:S72I;ENSP00000423663:S72I;ENSP00000426848:S72I	ENSP00000337159:S72I	S	+	2	0	0	ZFYVE16	79768475	79768475	0.090000	0.21635	0.945000	0.38365	0.222000	0.24845	1.340000	0.33896	2.489000	0.83994	0.467000	0.42956	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_014733			71	71		315	312	1		1	0		0	0	65	0		1	9.992682e-01	0	1	0	49	0	71	315
ZFYVE16	9765	broad.mit.edu	37	5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	350					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)			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)		AAAAAGTTTAGACCTTAAGGA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1048-1050)Gac>Tac		zinc finger, FYVE domain containing 16							115.0	110.0	112.0					5																	79733552		2203	4300	6503	SO:0001583	missense	9765	0	0					g.chr5:79733552G>T	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.1048G>T	chr5.hg19:g.79733552G>T	ENSP00000337159:p.Asp350Tyr	0					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	1	2	3	2.006602	Q7Z3T8	ZFY16_HUMAN		3	1228	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	1	1	hg19	c.1048G>T	CCDS4050.1	1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173172	0.21704	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.1	4.21	0.49690	5.1	4.21	0.49690	.	0.363134	0.23307	N	0.049620	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.944;0.996	P;P	0.59703	0.835;0.862	T	0.24799	-1.0150	10	0.52906	T	0.07	-0.1643	8.6938	0.34282	0.0835:0.1541:0.7624:0.0	.	350;350	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	350	ENSP00000337159:D350Y;ENSP00000423663:D350Y;ENSP00000426848:D350Y	ENSP00000337159:D350Y	D	+	1	0	0	ZFYVE16	79769308	79769308	0.641000	0.27251	0.025000	0.17156	0.104000	0.19210	1.474000	0.35398	1.229000	0.43630	0.563000	0.77884	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_014733			90	88		324	317	1		1	0		0	0	93	0		1	9.992453e-01	0	0	0	41	0	90	324
ZFYVE16	9765	broad.mit.edu	37	5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	834					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)			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)		ACTGTCCAGCCTCCTCAGGAG	0.408																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998490	0.990000	1.000000																										0				51						c.(2500-2502)cCt>cTt		zinc finger, FYVE domain containing 16							112.0	103.0	106.0					5																	79739023		2203	4300	6503	SO:0001583	missense	9765	0	0					g.chr5:79739023C>T	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.2501C>T	chr5.hg19:g.79739023C>T	ENSP00000337159:p.Pro834Leu	0					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	1	2	3	2.006602	Q7Z3T8	ZFY16_HUMAN		5	2681	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	1	1	hg19	c.2501C>T	CCDS4050.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506311	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49720	0.77;0.77;0.77	5.49	3.65	0.41850	5.49	3.65	0.41850	.	0.232813	0.30356	N	0.009813	T	0.50531	0.1621	M	0.81497	2.545	0.58432	D	0.99999	B	0.23854	0.092	B	0.27262	0.078	T	0.56068	-0.8040	10	0.66056	D	0.02	-4.4467	10.7346	0.46117	0.0:0.7961:0.1318:0.0721	.	834	Q7Z3T8	ZFY16_HUMAN	L	834	ENSP00000337159:P834L;ENSP00000423663:P834L;ENSP00000426848:P834L	ENSP00000337159:P834L	P	+	2	0	0	ZFYVE16	79774779	79774779	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	3.530000	0.53539	1.334000	0.45468	0.650000	0.86243	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.142710	1	0.170000	NM_014733			39	39		301	292	1		1	1		0	0	62	0		1	9.307071e-01	0	3	0	34	0	39	301
ZFYVE16	9765	broad.mit.edu	37	5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	922					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)			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)		TACTACAGTGGAAAAGCCAAA	0.328																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2764-2766)Gaa>Taa		zinc finger, FYVE domain containing 16							78.0	76.0	77.0					5																	79743884		2203	4300	6503	SO:0001587	stop_gained	9765	0	0					g.chr5:79743884G>T	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.2764G>T	chr5.hg19:g.79743884G>T	ENSP00000337159:p.Glu922*	0					ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	1	2	3	2.006602	Q7Z3T8	ZFY16_HUMAN		7	2944	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	0	1	hg19	c.2764G>T	CCDS4050.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.124485	0.98665	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.43	3.58	0.41010	5.43	3.58	0.41010	.	0.207974	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.612	6.9264	0.24418	0.14:0.1602:0.6998:0.0	.	.	.	.	X	922	.	ENSP00000337159:E922X	E	+	1	0	0	ZFYVE16	79779640	79779640	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.353000	0.34045	1.396000	0.46663	0.650000	0.86243	GAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	0	0	1		15	5	2	1		1	1	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_014733			55	54		247	240	0		1	0		1	0	68	0		9.999999e-01	9.840795e-01	0	2	0	57	0	55	247
ZFYVE16	9765	broad.mit.edu	37	5	79744105	79744105	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	995					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)			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)		TTGCTAGTATTTCAGATTATA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2983-2985)atT>atC		zinc finger, FYVE domain containing 16							89.0	85.0	86.0					5																	79744105		2203	4300	6503	SO:0001819	synonymous_variant	9765	0	0					g.chr5:79744105T>C	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.2985T>C	chr5.hg19:g.79744105T>C		0					ZFYVE16_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	1	2	3	2.006602	Q7Z3T8	ZFY16_HUMAN		7	3165	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Silent	SNP	ENST00000338008.5	1	1	hg19	c.2985T>C	CCDS4050.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_014733			45	45		214	213	1		1	1		0	0	56	0		1	9.974022e-01	0	12	0	34	0	45	214
FAM151B	167555	broad.mit.edu	37	5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	236										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)		AAAATGATAACTATTCCGTTG	0.323																																						ENST00000282226.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(706-708)aaC>aaA		family with sequence similarity 151, member B							69.0	71.0	70.0					5																	79837528		2203	4297	6500	SO:0001583	missense	167555	0	0					g.chr5:79837528C>A		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.708C>A	chr5.hg19:g.79837528C>A	ENSP00000282226:p.Asn236Lys	0					FAM151B_ENST00000511718.1_3'UTR	p.N236K	NM_205548.2	NP_991111.2	1	2	3	2.006602	Q6UXP7	F151B_HUMAN		6	863	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	1	1	hg19	c.708C>A	CCDS4051.1	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530438	0.27387	.	.	ENSG00000152380	ENST00000282226	T	0.10573	2.86	5.74	1.3	0.21679	5.74	1.3	0.21679	.	0.850415	0.10963	N	0.614717	T	0.04588	0.0125	N	0.05383	-0.06	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-11.1392	3.0276	0.06096	0.4643:0.3169:0.1262:0.0925	.	236	Q6UXP7	F151B_HUMAN	K	236	ENSP00000282226:N236K	ENSP00000282226:N236K	N	+	3	2	2	FAM151B	79873284	79873284	0.998000	0.40836	0.984000	0.44739	0.991000	0.79684	0.862000	0.27899	0.296000	0.22592	0.585000	0.79938	AAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_205548			44	44		191	188	1		1	1		0	0	51	0		1	7.303045e-01	0	2	0	11	0	44	191
DHFR	1719	broad.mit.edu	37	5	79924945	79924945	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	DHFR_ENST00000511032.1_3'UTR|CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000505337.1_Silent_p.G175G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323																																						ENST00000439211.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(523-525)ggC>ggT		dihydrofolate reductase	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						23.0	21.0	22.0					5																	79924945		1867	4122	5989	SO:0001819	synonymous_variant	1719	0	0					g.chr5:79924945G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.525C>T	chr5.hg19:g.79924945G>A		0					DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000513048.1_5'UTR	p.G175G	NM_000791.3	NP_000782.1	1	2	3	2.006602	P00374	DYR_HUMAN		6	1018	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	1	1	hg19	c.525C>T	CCDS47240.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	1	0	1		2	2	2	0		0	0	22		22	24	1	2.060000	-19.919210	1	0.170000	NM_000791			29	28		100	97	0		1	0		0	0	22	0		1	2.259142e-01	0	1	0	3	0	29	100
DHFR	1719	broad.mit.edu	37	5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	66	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348																																						ENST00000439211.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(196-198)Cga>Tga		dihydrofolate reductase	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						74.0	73.0	74.0					5																	79945254		2103	4258	6361	SO:0001587	stop_gained	1719	0	0					g.chr5:79945254G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.196C>T	chr5.hg19:g.79945254G>A	ENSP00000396308:p.Arg66*	0					DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000513048.1_5'UTR	p.R66*	NM_000791.3	NP_000782.1	1	2	3	2.006602	P00374	DYR_HUMAN		3	689	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	B4DDD2|Q14130|Q6IRW8	Nonsense_Mutation	SNP	ENST00000439211.2	0	1	hg19	c.196C>T	CCDS47240.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.472449	0.96274	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	.	.	.	5.41	4.51	0.55191	5.41	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.8828	11.9172	0.52771	0.0:0.0:0.6481:0.3519	.	.	.	.	X	66;66;66;14	.	.	R	-	1	2	2	DHFR	79981010	79981010	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.417000	0.44653	1.209000	0.43321	0.557000	0.71058	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	1	0	1		2	2	2	0		0	0	70		70	73	1	2.060000	-3.348637	1	0.170000	NM_000791			61	60		270	266	1		1			0	0	70	0		1	0	0	0	0	0	0	61	270
MSH3	4437	broad.mit.edu	37	5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	734					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)			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)		GCAAGAAATACGAAAAATACT	0.318								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2200-2202)Cga>Tga	Mismatch excision repair (MMR)	mutS homolog 3							71.0	72.0	72.0					5																	80064769		2203	4297	6500	SO:0001587	stop_gained	4437	1	121400	24				g.chr5:80064769C>T	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.2200C>T	chr5.hg19:g.80064769C>T	ENSP00000265081:p.Arg734*	0						p.R734*	NM_002439.4	NP_002430.3	1	2	3	2.006602	P20585	MSH3_HUMAN		15	2280	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	0	1	hg19	c.2200C>T	CCDS34195.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.671255	0.97751	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.51	1.65	0.23941	4.51	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0063	13.3788	0.60757	0.3993:0.6007:0.0:0.0	.	.	.	.	X	734;725	.	.	R	+	1	2	2	MSH3	80100525	80100525	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.573000	0.46007	0.077000	0.16863	-1.378000	0.01179	CGA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_002439			51	51		200	196	1		1	1		0	0	65	0		1	9.990182e-01	0	3	0	41	0	51	200
MSH3	4437	broad.mit.edu	37	5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	969					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)			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)		CAACATCACAGTCCTTGGTTA	0.403								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2905-2907)caG>caT	Mismatch excision repair (MMR)	mutS homolog 3							137.0	125.0	129.0					5																	80150042		2203	4300	6503	SO:0001583	missense	4437	0	0					g.chr5:80150042G>T	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.2907G>T	chr5.hg19:g.80150042G>T	ENSP00000265081:p.Gln969His	0						p.Q969H	NM_002439.4	NP_002430.3	1	2	3	2.006602	P20585	MSH3_HUMAN		21	2987	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	1	1	hg19	c.2907G>T	CCDS34195.1	1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795617	0.31777	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85171	-1.95	5.25	3.12	0.35913	5.25	3.12	0.35913	DNA mismatch repair protein MutS, C-terminal (2);	0.163440	0.53938	D	0.000043	T	0.64000	0.2559	N	0.04994	-0.135	0.33381	D	0.574795	B	0.16166	0.016	B	0.19946	0.027	T	0.58607	-0.7607	9	.	.	.	-2.5097	4.2003	0.10462	0.1322:0.1499:0.5656:0.1523	.	969	P20585	MSH3_HUMAN	H	969;960	ENSP00000265081:Q969H	.	Q	+	3	2	2	MSH3	80185798	80185798	0.868000	0.29978	0.963000	0.40424	0.938000	0.57974	0.101000	0.15251	1.169000	0.42739	0.655000	0.94253	CAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_002439			94	93		364	357	1		1	1		0	0	58	0		1	9.995088e-01	0	4	0	42	0	94	364
RASGRF2	5924	broad.mit.edu	37	5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	590					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)			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)		TGTGGACAATATACGATGTAA	0.338																																						ENST00000265080.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(1768-1770)Ata>Gta		Ras protein-specific guanine nucleotide-releasing factor 2							167.0	159.0	162.0					5																	80404827		2203	4300	6503	SO:0001583	missense	5924	0	0					g.chr5:80404827A>G	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.1768A>G	chr5.hg19:g.80404827A>G	ENSP00000265080:p.Ile590Val	0						p.I590V	NM_006909.2	NP_008840.1	1	2	3	2.006602	O14827	RGRF2_HUMAN		13	1835	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	1	1	hg19	c.1768A>G	CCDS4052.1	1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066701	0.55539	.	.	ENSG00000113319	ENST00000265080	T	0.53857	0.6	5.67	5.67	0.87782	5.67	5.67	0.87782	Pleckstrin homology domain (1);	0.040419	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42487	1.325	0.54753	D	0.999984	B	0.28605	0.217	B	0.31547	0.132	T	0.38887	-0.9640	10	0.27082	T	0.32	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	590	O14827	RGRF2_HUMAN	V	590	ENSP00000265080:I590V	ENSP00000265080:I590V	I	+	1	0	0	RASGRF2	80440583	80440583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.165000	0.68154	0.454000	0.30748	ATA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_006909			47	46		229	225	1		1	0		0	0	42	0		1	8.014234e-02	0	0	0	3	0	47	229
CKMT2	1160	broad.mit.edu	37	5	80550874	80550874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2_ENST00000254035.4_Silent_p.S170S|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	170	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)			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)	CTGGCCGCAGCATCCGTGGGC	0.662																																						ENST00000424301.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(508-510)agC>agT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						49.0	48.0	49.0					5																	80550874		2203	4300	6503	SO:0001819	synonymous_variant	1160	0	0					g.chr5:80550874C>T		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.510C>T	chr5.hg19:g.80550874C>T		0					CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S	p.S170S	NM_001825.2	NP_001816.2	1	2	3	2.006602	P17540	KCRS_HUMAN		6	748	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	1	1	hg19	c.510C>T	CCDS4053.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_001825			68	66		302	300	1		1	1		0	0	54	0		1	6.773835e-01	0	2	0	9	0	68	302
CKMT2	1160	broad.mit.edu	37	5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	419					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)			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)	TTGGCAAAAAGTAAACTTTCC	0.383																																						ENST00000424301.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1255-1257)aaG>aaT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						126.0	130.0	129.0					5																	80562074		2203	4300	6503	SO:0001583	missense	1160	0	0					g.chr5:80562074G>T		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.1257G>T	chr5.hg19:g.80562074G>T	ENSP00000404203:p.Lys419Asn	0					CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N	p.K419N	NM_001825.2	NP_001816.2	1	2	3	2.006602	P17540	KCRS_HUMAN		11	1495	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	1	1	hg19	c.1257G>T	CCDS4053.1	1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673184	0.29693	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.25085	1.82;1.82;1.82	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.075433	0.56097	D	0.000029	T	0.16171	0.0389	N	0.19112	0.55	0.38709	D	0.953176	B	0.24258	0.1	B	0.15484	0.013	T	0.05484	-1.0882	10	0.72032	D	0.01	-16.8663	9.233	0.37448	0.0825:0.1483:0.7692:0.0	.	419	P17540	KCRS_HUMAN	N	419	ENSP00000254035:K419N;ENSP00000410289:K419N;ENSP00000404203:K419N	ENSP00000254035:K419N	K	+	3	2	2	CKMT2	80597830	80597830	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	1.038000	0.30254	2.762000	0.94881	0.650000	0.86243	AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_001825			91	91		447	441	1		1	1		0	0	108	0		1	2.039887e-01	0	3	0	2	0	91	447
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000307624.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R147*(1)	large_intestine(1)	23						c.(439-441)Cga>Tga		acyl-CoA thioesterase 12							132.0	129.0	130.0					5																	80655779		2203	4300	6503	SO:0001587	stop_gained	134526	5	121406	40				g.chr5:80655779G>A	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	chr5.hg19:g.80655779G>A	ENSP00000303246:p.Arg147*	0					ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	p.R147*	NM_130767.2	NP_570123.1	1	2	3	2.006602	Q8WYK0	ACO12_HUMAN		5	467	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	0	1	hg19	c.439C>T	CCDS4055.1	1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	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	2	ACOT12	80691535	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	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_130767			63	61		239	237	1		1			0	0	44	0		1	0	0	0	0	0	0	63	239
SSBP2	23635	broad.mit.edu	37	5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338																																						ENST00000320672.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SSBP2/JAK2(4)	0				10						c.(616-618)cCt>cAt		single-stranded DNA binding protein 2							86.0	81.0	82.0					5																	80762814		2203	4300	6503	SO:0001583	missense	23635	1	121412	26				g.chr5:80762814G>T	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.617C>A	chr5.hg19:g.80762814G>T	ENSP00000322977:p.Pro206His	0					SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H	p.P206H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	1	2	3	2.006602	P81877	SSBP2_HUMAN		9	827	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	1	1	hg19	c.617C>A	CCDS4056.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731941	0.89390	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.968;0.964;0.968;0.998;0.999	T	0.81988	-0.0680	9	0.54805	T	0.06	-1.6827	20.6721	0.99693	0.0:0.0:1.0:0.0	.	176;184;186;159;184;206	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	H	206;176;176;159;120;112;186;184;202	.	ENSP00000322977:P206H	P	-	2	0	0	SSBP2	80798570	80798570	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	8.734000	0.91543	2.894000	0.99253	0.591000	0.81541	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.032676	1	0.170000	NM_012446			67	63		290	283	1		1	1		0	0	52	0		1	9.998045e-01	0	2	0	55	0	67	290
ATP6AP1L	92270	broad.mit.edu	37	5	81608455	81608455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000439350.1_Silent_p.L53L|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	53					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(157-159)Ttg>Ctg		ATPase, H+ transporting, lysosomal accessory protein 1-like							176.0	172.0	173.0					5																	81608455		2203	4300	6503	SO:0001819	synonymous_variant	92270	0	0					g.chr5:81608455T>C	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.157T>C	chr5.hg19:g.81608455T>C		0		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L	p.L53L			1	2	3	2.006602	Q52LC2	VAS1L_HUMAN		9	1482	+				Silent	SNP	ENST00000380167.4	1	1	hg19	c.157T>C	CCDS34196.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_001017971			143	143		628	620	1		1	0		0	0	154	0		1	7.249744e-01	0	0	0	13	0	143	628
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T	rs371506768		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000439350.1_Silent_p.C141C|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547																																						ENST00000380167.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.C141C(1)	large_intestine(1)	12						c.(421-423)tgC>tgT		ATPase, H+ transporting, lysosomal accessory protein 1-like		C		0,4406		0,0,2203	97.0	84.0	89.0		423	-6.3	0.0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92270	13	121412	41				g.chr5:81613867C>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	chr5.hg19:g.81613867C>T		0					ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C	p.C141C			1	2	3	2.006602	Q52LC2	VAS1L_HUMAN		10	1748	+				Silent	SNP	ENST00000380167.4	1	1	hg19	c.423C>T	CCDS34196.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.269918	1	0.170000	NM_001017971			57	56		275	269	1		1	1		0	0	76	0		1	9.207269e-01	0	11	0	12	0	57	275
VCAN	1462	broad.mit.edu	37	5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	7					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)			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)	AATATAAAGAGCATCTTATGG	0.323																																						ENST00000265077.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				190						c.(19-21)aGc>aTc		versican	Hyaluronan(DB08818)						122.0	117.0	119.0					5																	82779357		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82779357G>T	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.20G>T	chr5.hg19:g.82779357G>T	ENSP00000265077:p.Ser7Ile	0					VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I	p.S7I	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		2	585	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.20G>T	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824873	0.71143	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;T;T;D	0.86097	-1.99;-1.92;-2.07;3.23;2.94;-1.89	5.35	4.45	0.53987	5.35	4.45	0.53987	.	0.194776	0.36134	N	0.002767	D	0.87641	0.6228	L	0.60455	1.87	0.23559	N	0.997417	D;B;P;D;B	0.58970	0.984;0.01;0.728;0.981;0.167	P;B;B;P;B	0.58721	0.844;0.009;0.25;0.716;0.042	T	0.79037	-0.1967	10	0.22706	T	0.39	.	12.4398	0.55619	0.0:0.0:0.8321:0.1679	.	7;7;7;7;7	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	I	7	ENSP00000265077:S7I;ENSP00000340062:S7I;ENSP00000342768:S7I;ENSP00000426251:S7I;ENSP00000426715:S7I;ENSP00000421362:S7I	ENSP00000265077:S7I	S	+	2	0	0	VCAN	82815113	82815113	1.000000	0.71417	0.980000	0.43619	0.768000	0.43524	2.325000	0.43840	1.182000	0.42928	0.591000	0.81541	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004385			34	34		181	178	1		1	1		0	0	57	0		1	1	0	2	0	287	0	34	181
VCAN	1462	broad.mit.edu	37	5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A	rs370476323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	129	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)			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)	GGTCTTTACCGCTGTGACGTC	0.517																																						ENST00000265077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				190						c.(385-387)cGc>cAc		versican	Hyaluronan(DB08818)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	146.0	140.0	142.0		386,386,386,386	5.7	1.0	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	129/656,129/2410,129/1643,129/3397	82786232	1,13005	2203	4300	6503	SO:0001583	missense	1462	5	121412	40				g.chr5:82786232G>A	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.386G>A	chr5.hg19:g.82786232G>A	ENSP00000265077:p.Arg129His	0					VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H	p.R129H	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		3	951	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.386G>A	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462761	0.84425	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.73	5.73	0.89815	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80618	0.4657	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.924;0.999;1.0;0.986	T	0.81693	-0.0817	10	0.87932	D	0	.	19.9058	0.97007	0.0:0.0:1.0:0.0	.	129;129;129;129;129	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	129;129;129;81;129;129;129	ENSP00000265077:R129H;ENSP00000340062:R129H;ENSP00000342768:R129H;ENSP00000425959:R81H;ENSP00000426251:R129H;ENSP00000426715:R129H;ENSP00000421362:R129H	ENSP00000265077:R129H	R	+	2	0	0	VCAN	82821988	82821988	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.161000	0.71868	2.716000	0.92895	0.561000	0.74099	CGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_004385			103	102		392	385	1		1	1		0	0	103	0		1	1	0	4	0	360	0	103	392
VCAN	1462	broad.mit.edu	37	5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	233	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			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)	TATGGATTCCGTTCTCCCCAG	0.438																																						ENST00000265077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				190						c.(697-699)cGt>cAt		versican	Hyaluronan(DB08818)						212.0	193.0	200.0					5																	82789700		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82789700G>A	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.698G>A	chr5.hg19:g.82789700G>A	ENSP00000265077:p.Arg233His	0					VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H	p.R233H	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		5	1263	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.698G>A	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.405481	0.96051	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.97	5.97	0.96955	5.97	5.97	0.96955	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.56108	0.1963	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.998	T	0.70324	-0.4903	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	233;233;233;233;233	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	233;233;233;185;233;233;233	ENSP00000265077:R233H;ENSP00000340062:R233H;ENSP00000342768:R233H;ENSP00000425959:R185H;ENSP00000426251:R233H;ENSP00000426715:R233H;ENSP00000421362:R233H	ENSP00000265077:R233H	R	+	2	0	0	VCAN	82825456	82825456	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.489290	1	0.170000	NM_004385			121	120		491	482	1		1	1		0	0	94	0		1	1	0	3	0	396	0	121	491
VCAN	1462	broad.mit.edu	37	5	82817768	82817768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82817768G>A	ENST00000265077.3	+	7	4208	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1215	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)			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)	CAGTTCAGTAGACAGACTTCA	0.428																																						ENST00000265077.3	1.000000	0.120000	3.300000e-01	1.700000e-01	0.230000	0.294719	0.230000	0.230000																										0				190						c.(3643-3645)Gac>Aac		versican	Hyaluronan(DB08818)						150.0	146.0	147.0					5																	82817768		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82817768G>A	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.3643G>A	chr5.hg19:g.82817768G>A	ENSP00000265077:p.Asp1215Asn	0					VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000502527.2_Intron	p.D1215N	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		7	4208	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	0	1	hg19	c.3643G>A	CCDS4060.1	0	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219422	0.39201	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.90788	-2.73;-2.63;-2.68	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.092595	0.47093	D	0.000260	D	0.93038	0.7784	M	0.61703	1.905	0.45995	D	0.998803	D;D	0.59767	0.959;0.986	P;P	0.53266	0.647;0.722	D	0.93361	0.6727	10	0.72032	D	0.01	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	1215;1215	P13611-3;P13611	.;CSPG2_HUMAN	N	1215;1215;1167	ENSP00000265077:D1215N;ENSP00000342768:D1215N;ENSP00000425959:D1167N	ENSP00000265077:D1215N	D	+	1	0	0	VCAN	82853524	82853524	1.000000	0.71417	0.166000	0.22797	0.069000	0.16628	4.957000	0.63652	2.665000	0.90641	0.585000	0.79938	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1		2	2	2	0		0	0	118		118	115	1	2.060000	-3.100045	1	0.170000	NM_004385			12	12		625	613	0		1	0		0	0	118	0		9.990161e-01	4.620302e-01	0	0	0	78	0	12	625
VCAN	1462	broad.mit.edu	37	5	82834706	82834706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82834706G>A	ENST00000265077.3	+	8	6449	c.5884G>A	c.(5884-5886)Gca>Aca	p.A1962T	VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1962	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)			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)	CTCTGGAGATGCAGCATTTAG	0.453																																						ENST00000265077.3	1.000000	0.210000	5.600000e-01	2.900000e-01	0.400000	0.452032	0.400000	0.380000																										0				190						c.(5884-5886)Gca>Aca		versican	Hyaluronan(DB08818)						96.0	88.0	91.0					5																	82834706		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82834706G>A	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.5884G>A	chr5.hg19:g.82834706G>A	ENSP00000265077:p.Ala1962Thr	0					VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	p.A1962T	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		8	6449	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.5884G>A	CCDS4060.1	0	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384584	0.11524	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.88;-1.9;3.19	5.97	-1.47	0.08772	5.97	-1.47	0.08772	.	0.710056	0.13201	N	0.405995	T	0.75554	0.3865	M	0.62723	1.935	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.18710	T	0.47	.	1.9771	0.03418	0.3318:0.215:0.3443:0.1089	.	975;1962	P13611-2;P13611	.;CSPG2_HUMAN	T	1962;975;975	ENSP00000265077:A1962T;ENSP00000340062:A975T;ENSP00000426251:A975T	ENSP00000265077:A1962T	A	+	1	0	0	VCAN	82870462	82870462	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.118000	0.15605	-0.164000	0.10927	-0.469000	0.05056	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-11.928040	1	0.170000	NM_004385			12	12		358	350	0		1	0		0	0	67	0		9.990300e-01	9.999832e-01	0	0	0	645	0	12	358
VCAN	1462	broad.mit.edu	37	5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2197	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)			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)	CACAACTCTCCCTGAAGCTAC	0.373																																						ENST00000265077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				190						c.(6589-6591)Cct>Act		versican	Hyaluronan(DB08818)						91.0	89.0	89.0					5																	82835411		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82835411C>A	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.6589C>A	chr5.hg19:g.82835411C>A	ENSP00000265077:p.Pro2197Thr	0					VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	p.P2197T	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		8	7154	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.6589C>A	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553069	0.45487	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84442	-1.83;-1.85;3.29	5.46	3.41	0.39046	5.46	3.41	0.39046	.	0.454272	0.20652	N	0.088197	T	0.77824	0.4188	M	0.62723	1.935	0.09310	N	0.999999	P;B	0.34864	0.473;0.307	B;B	0.27887	0.084;0.051	T	0.70081	-0.4970	10	0.46703	T	0.11	.	5.0923	0.14715	0.2257:0.586:0.1064:0.0819	.	1210;2197	P13611-2;P13611	.;CSPG2_HUMAN	T	2197;1210;1210	ENSP00000265077:P2197T;ENSP00000340062:P1210T;ENSP00000426251:P1210T	ENSP00000265077:P2197T	P	+	1	0	0	VCAN	82871167	82871167	0.003000	0.15002	0.059000	0.19551	0.372000	0.29890	0.710000	0.25748	1.450000	0.47717	0.655000	0.94253	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.775517	1	0.170000	NM_004385			86	86		480	464	1		1	1		0	0	97	0		1	1	0	6	0	709	0	86	480
VCAN	1462	broad.mit.edu	37	5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2782	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)			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)	CTATCTAAGTATTGCTACTAC	0.438																																						ENST00000265077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				190						c.(8344-8346)Att>Gtt		versican	Hyaluronan(DB08818)						105.0	97.0	100.0					5																	82837166		2203	4300	6503	SO:0001583	missense	1462	0	0					g.chr5:82837166A>G	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.8344A>G	chr5.hg19:g.82837166A>G	ENSP00000265077:p.Ile2782Val	0					VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	p.I2782V	NM_004385.4	NP_004376.2	1	2	3	2.006602	P13611	CSPG2_HUMAN		8	8909	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.8344A>G	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	A	8.071	0.770228	0.15983	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38722	1.12;1.12	6.17	5.0	0.66597	6.17	5.0	0.66597	.	0.176773	0.40469	N	0.001084	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	B;B	0.23540	0.084;0.087	B;B	0.24006	0.05;0.033	T	0.12041	-1.0563	10	0.31617	T	0.26	.	9.6564	0.39928	0.8694:0.0:0.1306:0.0	.	1795;2782	P13611-2;P13611	.;CSPG2_HUMAN	V	2782;1795	ENSP00000265077:I2782V;ENSP00000340062:I1795V	ENSP00000265077:I2782V	I	+	1	0	0	VCAN	82872922	82872922	0.924000	0.31332	0.976000	0.42696	0.039000	0.13416	1.350000	0.34010	2.371000	0.80710	0.533000	0.62120	ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000	NM_004385			76	74		355	347	1		1	1		0	0	116	0		1	1	0	8	0	804	0	76	355
HAPLN1	1404	broad.mit.edu	37	5	82937350	82937350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	344	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ACACCATACAGCTTATGCTTT	0.478																																						ENST00000274341.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1030-1032)Ctg>Ttg		hyaluronan and proteoglycan link protein 1	Hyaluronan(DB08818)						143.0	153.0	149.0					5																	82937350		2203	4300	6503	SO:0001819	synonymous_variant	1404	0	0					g.chr5:82937350G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1030C>T	chr5.hg19:g.82937350G>A		0						p.L344L	NM_001884.3	NP_001875.1	1	2	3	2.006602	P10915	HPLN1_HUMAN		5	1880	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	B2R9A9	Silent	SNP	ENST00000274341.4	1	1	hg19	c.1030C>T	CCDS4061.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	1	0	1		2	2	2	0		0	0	165		165	165	1	2.060000	-20.000000	1	0.170000	NM_001884			148	146		750	740	1		1	0		0	0	165	0		1	9.103229e-01	0	0	0	23	0	148	750
EDIL3	10085	broad.mit.edu	37	5	83362285	83362285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.G254G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348																																						ENST00000296591.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(790-792)ggC>ggT		EGF-like repeats and discoidin I-like domains 3							90.0	98.0	96.0					5																	83362285		2203	4300	6503	SO:0001819	synonymous_variant	10085	0	0					g.chr5:83362285G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.792C>T	chr5.hg19:g.83362285G>A		0					EDIL3_ENST00000380138.3_Silent_p.G254G|EDIL3_ENST00000510271.1_5'UTR	p.G264G	NM_005711.3	NP_005702.3	1	2	3	2.006602	O43854	EDIL3_HUMAN		7	1210	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	1	1	hg19	c.792C>T	CCDS4062.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.999870	1	0.170000	NM_005711			41	40		184	176	1		1	0		0	0	38	0		1	1	0	0	0	247	0	41	184
EDIL3	10085	broad.mit.edu	37	5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	52	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393																																						ENST00000296591.5	1.000000	0.720000	1	8.900000e-01	0.990000	0.962189	0.990000	1.000000																										0				31						c.(154-156)Gat>Tat		EGF-like repeats and discoidin I-like domains 3							92.0	83.0	86.0					5																	83549944		2203	4300	6503	SO:0001583	missense	10085	0	0					g.chr5:83549944C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.154G>T	chr5.hg19:g.83549944C>A	ENSP00000296591:p.Asp52Tyr	0					EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	p.D52Y	NM_005711.3	NP_005702.3	1	2	3	2.006602	O43854	EDIL3_HUMAN		2	572	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	1	1	hg19	c.154G>T	CCDS4062.1	1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564227	0.45694	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.92397	-3.03;-3.03	5.61	5.61	0.85477	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.382799	0.21161	N	0.079154	D	0.94155	0.8125	L	0.43923	1.385	0.27100	N	0.962635	B;B	0.29955	0.115;0.263	B;P	0.52514	0.086;0.701	D	0.90169	0.4234	10	0.72032	D	0.01	-12.6903	15.7408	0.77894	0.0:0.8635:0.1365:0.0	.	52;52	O43854-2;O43854	.;EDIL3_HUMAN	Y	52	ENSP00000296591:D52Y;ENSP00000369483:D52Y	ENSP00000296591:D52Y	D	-	1	0	0	EDIL3	83585700	83585700	0.994000	0.37717	0.983000	0.44433	0.948000	0.59901	2.320000	0.43797	2.642000	0.89623	0.650000	0.86243	GAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.318795	1	0.170000	NM_005711			23	23		228	219	1		1	0		0	0	45	0		9.999993e-01	9.999943e-01	0	0	0	201	0	23	228
COX7C	1350	broad.mit.edu	37	5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000513124.1_3'UTR			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	53					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373																																						ENST00000509578.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(157-159)Ttc>Gtc		cytochrome c oxidase subunit VIIc							175.0	164.0	168.0					5																	85915251		2203	4300	6503	SO:0001583	missense	1350	0	0					g.chr5:85915251T>G	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.157T>G	chr5.hg19:g.85915251T>G	ENSP00000425759:p.Phe53Val	0					COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|MIR3607_ENST00000362392.1_RNA	p.F53V			1	2	3	2.006602	P15954	COX7C_HUMAN		2	257	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	1	1	hg19	c.157T>G	CCDS4063.1	1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176737	0.38413	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80632	-0.1296	8	0.66056	D	0.02	-14.2803	12.1643	0.54120	0.0:0.0:0.0:1.0	.	53	P15954	COX7C_HUMAN	V	53	.	ENSP00000247655:F53V	F	+	1	0	0	COX7C	85951007	85951007	1.000000	0.71417	0.645000	0.29479	0.038000	0.13279	5.524000	0.67105	2.118000	0.64928	0.533000	0.62120	TTC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_001867			103	100		521	516	1		1	1		0	0	158	0		1	1	0	1008	0	2329	0	103	521
RASA1	5921	broad.mit.edu	37	5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000274376.6	+	16	2677	c.2113T>C	c.(2113-2115)Tcc>Ccc	p.S705P	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|RASA1_ENST00000456692.2_Missense_Mutation_p.S528P	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	705					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)			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)		TGAACCAGGGTCCCTGCGTGT	0.403																																						ENST00000274376.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2113-2115)Tcc>Ccc		RAS p21 protein activator (GTPase activating protein) 1							98.0	95.0	96.0					5																	86672311		2203	4300	6503	SO:0001583	missense	5921	0	0					g.chr5:86672311T>C		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.2113T>C	chr5.hg19:g.86672311T>C	ENSP00000274376:p.Ser705Pro	0					RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|RASA1_ENST00000456692.2_Missense_Mutation_p.S528P|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|CTC-428H11.2_ENST00000607486.1_RNA	p.S705P	NM_002890.2	NP_002881.1	1	2	3	2.006602	P20936	RASA1_HUMAN		16	2677	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	1	1	hg19	c.2113T>C	CCDS34200.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312935	0.81358	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.54	4.31	0.51392	5.54	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.048785	0.85682	D	0.000000	T	0.81004	0.4733	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.74348	0.959;0.983;0.959;0.982;0.959	T	0.81720	-0.0804	10	0.51188	T	0.08	.	11.465	0.50232	0.1347:0.0:0.0:0.8653	.	539;538;539;528;705	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	705;738;528;538;539	ENSP00000274376:S705P;ENSP00000411221:S528P;ENSP00000422008:S538P;ENSP00000420905:S539P	ENSP00000274376:S705P	S	+	1	0	0	RASA1	86708067	86708067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	2.102000	0.63906	0.460000	0.39030	TCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_002890			67	66		248	246	1		1	1		0	0	59	0		1	9.999978e-01	0	4	0	70	0	67	248
TMEM161B	153396	broad.mit.edu	37	5	87498877	87498877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000296595.6	-	9	940	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000506536.1_Silent_p.I90I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	272						integral component of membrane (GO:0016021)				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)		CCAAGAAGTTGATATGAAGTA	0.363																																						ENST00000296595.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(814-816)atC>atT		transmembrane protein 161B							122.0	113.0	116.0					5																	87498877		2203	4300	6503	SO:0001819	synonymous_variant	153396	2	121412	31				g.chr5:87498877G>A	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.816C>T	chr5.hg19:g.87498877G>A		0					TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000509387.1_Silent_p.I145I	p.I272I	NM_153354.3	NP_699185.1	1	2	3	2.006602	Q8NDZ6	T161B_HUMAN		9	940	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	1	1	hg19	c.816C>T	CCDS4065.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_153354			61	60		309	307	0		1	1		0	0	67	0		1	9.891465e-01	0	6	0	32	0	61	309
MBLAC2	153364	broad.mit.edu	37	5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000504930.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D|POLR3G_ENST00000514483.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	135						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682																																						ENST00000316610.6	1.000000	0.640000	1	9.400000e-01	0.990000	0.964948	0.990000	1.000000																										0				5						c.(403-405)gCc>gAc		metallo-beta-lactamase domain containing 2							11.0	12.0	12.0					5																	89769706		2186	4275	6461	SO:0001583	missense	153364	0	0					g.chr5:89769706G>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.404C>A	chr5.hg19:g.89769706G>T	ENSP00000314776:p.Ala135Asp	0					MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	p.A135D	NM_203406.1	NP_981951	1	2	3	2.006602	Q68D91	MBLC2_HUMAN		1	879	-			D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	0	1	hg19	c.404C>A	CCDS4067.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.240964	0.95272	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.42513	0.97;0.97	5.34	4.46	0.54185	5.34	4.46	0.54185	Beta-lactamase-like (2);	0.047707	0.85682	N	0.000000	T	0.51753	0.1693	M	0.76328	2.33	0.80722	D	1	P	0.39311	0.667	P	0.45232	0.474	T	0.52895	-0.8514	10	0.37606	T	0.19	-12.2393	15.4054	0.74874	0.0:0.0:0.8598:0.1402	.	135	Q68D91	MBLC2_HUMAN	D	135;135;135;65	ENSP00000314776:A135D;ENSP00000425600:A135D	ENSP00000314776:A135D	A	-	2	0	0	AC093510.2;MBLAC2	89805462	89805462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.142000	0.94618	1.222000	0.43521	0.563000	0.77884	GCC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-14.600630	1	0.170000	NM_203406			8	8		64	64	0		1	0		0	0	8	0		9.907666e-01	5.049746e-01	0	1	0	13	0	8	64
MBLAC2	153364	broad.mit.edu	37	5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000504930.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D|POLR3G_ENST00000514483.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	37						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607																																						ENST00000316610.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.996911	0.990000	1.000000																										0				5						c.(109-111)gGc>gAc		metallo-beta-lactamase domain containing 2							28.0	25.0	26.0					5																	89770000		2202	4300	6502	SO:0001583	missense	153364	0	0					g.chr5:89770000C>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.110G>A	chr5.hg19:g.89770000C>T	ENSP00000314776:p.Gly37Asp	0					MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	p.G37D	NM_203406.1	NP_981951	1	2	3	2.006602	Q68D91	MBLC2_HUMAN		1	585	-			D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	0	1	hg19	c.110G>A	CCDS4067.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.653877	0.96724	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122	T;T	0.80214	-1.35;-1.35	5.37	5.37	0.77165	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	L	0.54908	1.71	0.80722	D	1	P	0.45474	0.859	P	0.61397	0.888	T	0.82841	-0.0258	10	0.23302	T	0.38	-1.1889	18.7291	0.91728	0.0:1.0:0.0:0.0	.	37	Q68D91	MBLC2_HUMAN	D	37	ENSP00000314776:G37D;ENSP00000425600:G37D	ENSP00000314776:G37D	G	-	2	0	0	AC093510.2;MBLAC2	89805756	89805756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.496000	0.84212	0.655000	0.94253	GGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-18.951360	1	0.170000	NM_203406			10	10		49	49	1		1	1		0	0	17	0		9.977216e-01	9.325742e-01	0	7	0	19	0	10	49
GPR98	84059	broad.mit.edu	37	5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	460	Calx-beta 4. {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)			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)		CATTTTGCACAAGGGCAGATG	0.463																																						ENST00000405460.2	1.000000	0.250000	5.700000e-01	3.300000e-01	0.430000	0.476756	0.430000	0.420000																										0				269						c.(1378-1380)cAa>cGa		G protein-coupled receptor 98							154.0	151.0	152.0					5																	89924519		1972	4162	6134	SO:0001583	missense	84059	0	0					g.chr5:89924519A>G	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.1379A>G	chr5.hg19:g.89924519A>G	ENSP00000384582:p.Gln460Arg	0						p.Q460R	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		8	1475	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	1	1	hg19	c.1379A>G	CCDS47246.1	0	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281698	0.80692	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30981	1.51	5.72	4.53	0.55603	5.72	4.53	0.55603	.	0.116585	0.64402	D	0.000014	T	0.47820	0.1466	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.49428	-0.8941	10	0.62326	D	0.03	.	13.1022	0.59226	0.866:0.134:0.0:0.0	.	460	Q8WXG9	GPR98_HUMAN	R	460	ENSP00000384582:Q460R	ENSP00000296619:Q460R	Q	+	2	0	0	GPR98	89960275	89960275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.673000	0.68109	1.060000	0.40578	0.528000	0.53228	CAA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-16.094250	1	0.170000	NM_032119			17	16		466	461	0		1	0		0	0	78	0		9.999626e-01	1.450935e-03	0	0	0	2	0	17	466
GPR98	84059	broad.mit.edu	37	5	89925335	89925335	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	606					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)			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)		tccttcaaaatggagctcact	0.318																																						ENST00000405460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				269						c.(1816-1818)aaT>aaC		G protein-coupled receptor 98							56.0	55.0	55.0					5																	89925335		1844	4083	5927	SO:0001819	synonymous_variant	84059	0	0					g.chr5:89925335T>C	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.1818T>C	chr5.hg19:g.89925335T>C		0						p.N606N	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		9	1914	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	1	1	hg19	c.1818T>C	CCDS47246.1	1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002709	0.19121	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71167	-0.4672	4	.	.	.	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	R	195	.	.	W	+	1	0	0	GPR98	89961091	89961091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.104000	0.64026	0.533000	0.62120	TGG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_032119			37	37		168	167	1		1	0		0	0	48	0		1	0	0	0	0	1	0	37	168
GPR98	84059	broad.mit.edu	37	5	89938474	89938474	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	754					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)			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)		AAAACCAAGTGCTGAAATCTG	0.413																																						ENST00000405460.2	1.000000	0.350000	6.500000e-01	4.200000e-01	0.520000	0.556470	0.520000	0.500000																										0				269						c.(2260-2262)gtG>gtA		G protein-coupled receptor 98							116.0	119.0	118.0					5																	89938474		1805	4076	5881	SO:0001819	synonymous_variant	84059	0	0					g.chr5:89938474G>A	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.2262G>A	chr5.hg19:g.89938474G>A		0						p.V754V	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		12	2358	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	1	1	hg19	c.2262G>A	CCDS47246.1	0	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756800	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	1.0	0.19881	5.09	1.0	0.19881	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	2.1616	0.03826	0.2883:0.3898:0.2094:0.1125	.	.	.	.	T	343	.	.	A	+	1	0	0	GPR98	89974230	89974230	0.969000	0.33509	0.949000	0.38748	0.727000	0.41649	0.197000	0.17197	0.158000	0.19367	0.460000	0.39030	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-4.700911	1	0.170000	NM_032119			29	29		646	636	0		1			0	0	111	0		1	0	0	0	0	0	0	29	646
GPR98	84059	broad.mit.edu	37	5	89939798	89939798	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89939798G>T	ENST00000405460.2	+	14	2828	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	911	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)			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)		GCTATCTATAGTGGTAATTTA	0.274																																						ENST00000405460.2	1.000000	0.260000	9.700000e-01	4.100000e-01	0.630000	0.659180	0.630000	1.000000																										0				269						c.(2731-2733)aGt>aTt		G protein-coupled receptor 98							107.0	101.0	103.0					5																	89939798		1825	4080	5905	SO:0001583	missense	84059	0	0					g.chr5:89939798G>T	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.2732G>T	chr5.hg19:g.89939798G>T	ENSP00000384582:p.Ser911Ile	0						p.S911I	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		14	2828	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	0	1	hg19	c.2732G>T	CCDS47246.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.146701|2.146701	0.37923|0.37923	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.27557|.	1.66|.	5.35|5.35	2.46|2.46	0.29980|0.29980	5.35|5.35	2.46|2.46	0.29980|0.29980	Na-Ca exchanger/integrin-beta4 (1);|.	0.900278|.	0.09866|.	N|.	0.745581|.	T|.	0.33933|.	0.0880|.	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	P|.	0.40000|.	0.698|.	B|.	0.37888|.	0.26|.	T|.	0.21518|.	-1.0243|.	10|.	0.54805|.	T|.	0.06|.	.|.	5.3234|5.3234	0.15893|0.15893	0.3069:0.2793:0.4138:0.0|0.3069:0.2793:0.4138:0.0	.|.	911|.	Q8WXG9|.	GPR98_HUMAN|.	I|Y	911|499	ENSP00000384582:S911I|.	ENSP00000296619:S911I|.	S|X	+|+	2|3	0|2	0|2	GPR98|GPR98	89975554|89975554	89975554|89975554	0.527000|0.527000	0.26306|0.26306	0.390000|0.390000	0.26220|0.26220	0.262000|0.262000	0.26303|0.26303	1.118000|1.118000	0.31246|0.31246	0.615000|0.615000	0.30124|0.30124	0.655000|0.655000	0.94253|0.94253	AGT|TAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-9.559643	1	0.170000	NM_032119			6	6		116	114	0		1			0	0	11	0		9.644063e-01	0	0	0	0	0	0	6	116
GPR98	84059	broad.mit.edu	37	5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3297					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)			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)		TGGCAGGGGATTTTTATTCCA	0.284																																						ENST00000405460.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999928	0.990000	1.000000																										0				269						c.(9889-9891)aTt>aGt		G protein-coupled receptor 98							53.0	47.0	49.0					5																	90020790		1785	4056	5841	SO:0001583	missense	84059	0	0					g.chr5:90020790T>G	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.9890T>G	chr5.hg19:g.90020790T>G	ENSP00000384582:p.Ile3297Ser	0						p.I3297S	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		46	9986	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	1	1	hg19	c.9890T>G	CCDS47246.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.370527|2.370527	0.42003|0.42003	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.26518	.|1.73	5.51|5.51	4.36|4.36	0.52297|0.52297	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.449501	.|0.25154	.|N	.|0.032734	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28128	.|0.049;0.201	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.66056	.|D	.|0.02	.|.	10.582|10.582	0.45261|0.45261	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|3297;3297	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	863|3297	.|ENSP00000384582:I3297S	.|ENSP00000296619:I3297S	F|I	+|+	1|2	0|0	0|0	GPR98|GPR98	90056546|90056546	90056546|90056546	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	0.940000|0.940000	0.37473|0.37473	0.455000|0.455000	0.32223|0.32223	TTT|ATT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_032119			31	31		179	179	1		1			0	0	21	0		1	0	0	0	0	0	0	31	179
GPR98	84059	broad.mit.edu	37	5	90041501	90041501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3621	Calx-beta 23. {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)			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)		AAGAATCCTTCAAAGTTCAAC	0.363																																						ENST00000405460.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996250	0.990000	1.000000																										0				269						c.(10861-10863)ttC>ttT		G protein-coupled receptor 98							90.0	83.0	85.0					5																	90041501		1831	4090	5921	SO:0001819	synonymous_variant	84059	0	0					g.chr5:90041501C>T	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.10863C>T	chr5.hg19:g.90041501C>T		0						p.F3621F	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		52	10959	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	1	1	hg19	c.10863C>T	CCDS47246.1	1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071033	0.20147	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.59	4.73	0.59995	5.59	4.73	0.59995	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	4	.	.	.	.	11.0436	0.47846	0.0:0.8049:0.0:0.1951	.	.	.	.	L	1187	.	.	S	+	2	0	0	GPR98	90077257	90077257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.989000	0.40707	1.377000	0.46286	0.563000	0.77884	TCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-11.674800	1	0.170000	NM_032119			24	24		179	178	1		1	0		0	0	56	0		9.999998e-01	0	0	1	0	0	0	24	179
GPR98	84059	broad.mit.edu	37	5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5205					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)			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)		GTCTGAAAAGCCTGATGTGGC	0.473																																						ENST00000405460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				269						c.(15613-15615)Cct>Tct		G protein-coupled receptor 98							80.0	79.0	79.0					5																	90106690		1964	4184	6148	SO:0001583	missense	84059	0	0					g.chr5:90106690C>T	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.15613C>T	chr5.hg19:g.90106690C>T	ENSP00000384582:p.Pro5205Ser	0					GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	p.P5205S	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		74	15709	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	1	1	hg19	c.15613C>T	CCDS47246.1	1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005721	0.19199	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.71;1.68	5.01	4.08	0.47627	5.01	4.08	0.47627	.	0.000000	0.49305	D	0.000150	T	0.25005	0.0607	L	0.51422	1.61	0.29785	N	0.833667	P;B;P	0.40180	0.58;0.118;0.705	B;B;B	0.41510	0.196;0.026;0.359	T	0.09465	-1.0673	9	.	.	.	.	10.1779	0.42950	0.1985:0.8015:0.0:0.0	.	866;5205;866	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5205;5205;866	ENSP00000384582:P5205S;ENSP00000392618:P866S	.	P	+	1	0	0	GPR98	90142446	90142446	0.998000	0.40836	0.993000	0.49108	0.798000	0.45092	1.080000	0.30779	2.504000	0.84457	0.563000	0.77884	CCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_032119			91	88		320	316	1		1	0		0	0	75	0		1	5.004036e-02	0	0	0	2	0	91	320
GPR98	84059	broad.mit.edu	37	5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					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)			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)		GAAGTGACTGAGAATTTTGCC	0.383																																						ENST00000405460.2	1.000000	0.710000	1	8.900000e-01	0.990000	0.962110	0.990000	1.000000																										0				269						c.(17149-17151)gAg>gGg		G protein-coupled receptor 98							106.0	99.0	101.0					5																	90144584		1835	4087	5922	SO:0001583	missense	84059	0	0					g.chr5:90144584A>G	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.17150A>G	chr5.hg19:g.90144584A>G	ENSP00000384582:p.Glu5717Gly	0					GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	p.E5717G	NM_032119.3	NP_115495.3	1	2	3	2.006602	Q8WXG9	GPR98_HUMAN		79	17246	+		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)	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	1	1	hg19	c.17150A>G	CCDS47246.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.228007	0.95173	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.38887	1.11;1.15	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62891	-0.6758	9	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	5717;5717;1378	ENSP00000384582:E5717G;ENSP00000392618:E1378G	.	E	+	2	0	0	GPR98	90180340	90180340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	2.279000	0.76181	0.533000	0.62120	GAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_032119			21	20		206	204	0		1	0		0	0	58	0		9.999979e-01	9.606987e-03	0	0	0	2	0	21	206
NR2F1	7025	broad.mit.edu	37	5	92923924	92923924	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	255					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)			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)		TACGCCTCACCTGGAGCGAGC	0.687																																						ENST00000327111.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(763-765)acC>acA		nuclear receptor subfamily 2, group F, member 1							70.0	67.0	68.0					5																	92923924		2203	4300	6503	SO:0001819	synonymous_variant	7025	0	0					g.chr5:92923924C>A	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.765C>A	chr5.hg19:g.92923924C>A		0					NR2F1-AS1_ENST00000513055.1_RNA	p.T255T	NM_005654.4	NP_005645.1	1	2	3	2.006602	P10589	COT1_HUMAN		2	2452	+		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)		Silent	SNP	ENST00000327111.3	1	1	hg19	c.765C>A	CCDS4068.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.260742	1	0.170000	NM_005654			90	89		379	370	1		1	0		0	0	100	0		1	9.973766e-01	0	0	0	40	0	90	379
POU5F2	134187	broad.mit.edu	37	5	93076496	93076496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	POU5F2_ENST00000606183.1_5'UTR|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	258					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)		TGCGGTTATAGAACCAAACTC	0.577																																						ENST00000510627.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999891	0.990000	1.000000																										0										c.(772-774)ttC>ttT		POU domain class 5, transcription factor 2							52.0	53.0	52.0					5																	93076496		2012	4177	6189	SO:0001819	synonymous_variant	134187	0	0					g.chr5:93076496G>A		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.774C>T	chr5.hg19:g.93076496G>A		0					FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron	p.F258F	NM_153216.1	NP_694948.1	1	2	3	2.006602	Q8N7G0	PO5F2_HUMAN		1	847	-		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)	Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	1	1	hg19	c.774C>T	CCDS59489.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_153216			19	18		86	82	1		1			0	0	22	0		9.999924e-01	0	0	0	0	0	0	19	86
MCTP1	79772	broad.mit.edu	37	5	94619986	94619986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	98					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			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)		AGCAGCACAGGTTGGGCTGCG	0.701																																						ENST00000515393.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(292-294)aaC>aaT		multiple C2 domains, transmembrane 1							20.0	23.0	22.0					5																	94619986		2152	4202	6354	SO:0001819	synonymous_variant	79772	0	0					g.chr5:94619986G>A		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.294C>T	chr5.hg19:g.94619986G>A		0						p.N98N	NM_024717.4	NP_078993.4	1	2	3	2.006602	Q6DN14	MCTP1_HUMAN		1	293	-		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)	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	1	1	hg19	c.294C>T	CCDS34203.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_024717			63	63		225	220	0		1			0	0	54	0		1	0	0	0	0	0	0	63	225
TTC37	9652	broad.mit.edu	37	5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1418						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443																																						ENST00000358746.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(4252-4254)Gct>Tct		tetratricopeptide repeat domain 37							114.0	101.0	105.0					5																	94814107		2203	4300	6503	SO:0001583	missense	9652	0	0					g.chr5:94814107C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4252G>T	chr5.hg19:g.94814107C>A	ENSP00000351596:p.Ala1418Ser	0						p.A1418S	NM_014639.3	NP_055454.1	1	2	3	2.006602	Q6PGP7	TTC37_HUMAN		40	4550	-			O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	1	1	hg19	c.4252G>T	CCDS4072.1	1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778824	0.70107	.	.	ENSG00000198677	ENST00000358746	T	0.63913	-0.07	5.69	5.69	0.88448	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239529	0.43260	D	0.000592	T	0.58637	0.2136	L	0.27053	0.805	0.28065	N	0.932795	P	0.45283	0.855	P	0.48598	0.583	T	0.51568	-0.8689	10	0.13853	T	0.58	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	1418	Q6PGP7	TTC37_HUMAN	S	1418	ENSP00000351596:A1418S	ENSP00000351596:A1418S	A	-	1	0	0	TTC37	94839863	94839863	0.999000	0.42202	0.991000	0.47740	0.916000	0.54674	4.296000	0.59055	2.686000	0.91538	0.645000	0.84053	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_014639			59	58		318	309	1		1	1		0	0	73	0		1	1	0	37	0	119	0	59	318
TTC37	9652	broad.mit.edu	37	5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1385						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408																																						ENST00000358746.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(4153-4155)gTa>gCa		tetratricopeptide repeat domain 37							179.0	173.0	175.0					5																	94818235		2203	4300	6503	SO:0001583	missense	9652	1	121412	37				g.chr5:94818235A>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4154T>C	chr5.hg19:g.94818235A>G	ENSP00000351596:p.Val1385Ala	0						p.V1385A	NM_014639.3	NP_055454.1	1	2	3	2.006602	Q6PGP7	TTC37_HUMAN		39	4452	-			O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	1	1	hg19	c.4154T>C	CCDS4072.1	1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407050	0.42715	.	.	ENSG00000198677	ENST00000358746	T	0.50548	0.74	5.83	4.68	0.58851	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);	0.174489	0.49305	N	0.000142	T	0.28499	0.0705	N	0.20986	0.625	0.40485	D	0.980488	B	0.22146	0.065	B	0.16289	0.015	T	0.11991	-1.0565	10	0.02654	T	1	.	11.8182	0.52224	0.9318:0.0:0.0682:0.0	.	1385	Q6PGP7	TTC37_HUMAN	A	1385	ENSP00000351596:V1385A	ENSP00000351596:V1385A	V	-	2	0	0	TTC37	94843991	94843991	0.971000	0.33674	0.692000	0.30179	0.975000	0.68041	5.220000	0.65267	1.045000	0.40225	-0.256000	0.11100	GTA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	1	0	1		2	2	2	0		0	0	175		175	173	1	2.060000	-20.000000	1	0.170000	NM_014639			122	120		596	583	1		1	1		0	0	175	0		1	1	0	41	0	118	0	122	596
TTC37	9652	broad.mit.edu	37	5	94877557	94877557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94877557C>T	ENST00000358746.2	-	6	586	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	96						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAACACCAGGCAAGTCATCCT	0.323																																						ENST00000358746.2	1.000000	0.180000	6.400000e-01	2.800000e-01	0.420000	0.476376	0.420000	0.380000																										0				47						c.(286-288)ttG>ttA		tetratricopeptide repeat domain 37							86.0	86.0	86.0					5																	94877557		2203	4299	6502	SO:0001819	synonymous_variant	9652	0	0					g.chr5:94877557C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.288G>A	chr5.hg19:g.94877557C>T		0						p.L96L	NM_014639.3	NP_055454.1	1	2	3	2.006602	Q6PGP7	TTC37_HUMAN		6	586	-			O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	1	1	hg19	c.288G>A	CCDS4072.1	0																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.657745	1	0.170000	NM_014639			7	7		204	203	0		1	0		0	0	46	0		9.808087e-01	7.123780e-01	0	0	0	72	0	7	204
ARSK	153642	broad.mit.edu	37	5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	49					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)			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)		TTAACATTTCATCCAGGAAGT	0.323																																						ENST00000380009.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(145-147)cAt>cGt		arylsulfatase family, member K							71.0	66.0	68.0					5																	94901721		2203	4300	6503	SO:0001583	missense	153642	0	0					g.chr5:94901721A>G		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.146A>G	chr5.hg19:g.94901721A>G	ENSP00000369346:p.His49Arg	0						p.H49R	NM_198150.2	NP_937793.1	1	2	3	2.006602	Q6UWY0	ARSK_HUMAN		2	351	+		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)	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	1	1	hg19	c.146A>G	CCDS4073.1	1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426397	0.25726	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.99887	-7.53	6.17	5.0	0.66597	6.17	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399540	0.29638	N	0.011585	D	0.99052	0.9675	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.99984	1.3018	10	0.25751	T	0.34	-5.2358	7.7932	0.29133	0.6385:0.1248:0.0:0.2367	.	49	Q6UWY0	ARSK_HUMAN	R	49	ENSP00000369346:H49R	ENSP00000369346:H49R	H	+	2	0	0	ARSK	94927477	94927477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.130000	0.42092	0.533000	0.62120	CAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_198150			29	28		98	98	1		1	0		0	0	29	0		1	9.331966e-01	0	0	0	18	0	29	98
SPATA9	83890	broad.mit.edu	37	5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	73					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403																																						ENST00000274432.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(217-219)Gca>Aca		spermatogenesis associated 9							195.0	166.0	176.0					5																	95011277		2203	4300	6503	SO:0001583	missense	83890	0	0					g.chr5:95011277C>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.217G>A	chr5.hg19:g.95011277C>T	ENSP00000274432:p.Ala73Thr	0					RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	p.A73T	NM_031952.3	NP_114158.2	1	2	3	2.006602	Q9BWV2	SPAT9_HUMAN		3	358	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	1	1	hg19	c.217G>A	CCDS4076.1	1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049475	0.01981	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.91	-1.22	0.09494	4.91	-1.22	0.09494	.	0.750081	0.12247	N	0.486018	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.14868	-1.0457	10	0.29301	T	0.29	-2.4842	2.8354	0.05513	0.1166:0.4832:0.1141:0.286	.	73	Q9BWV2	SPAT9_HUMAN	T	73	ENSP00000274432:A73T	ENSP00000274432:A73T	A	-	1	0	0	SPATA9	95037033	95037033	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.809000	0.27168	-0.645000	0.05458	-2.879000	0.00098	GCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-19.999890	1	0.170000	NM_031952			47	45		252	246	1		1			0	0	69	0		1	0	0	0	0	0	0	47	252
RHOBTB3	22836	broad.mit.edu	37	5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	132	Rho-like.				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)			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)		ATTATTGCTGCTGTTGGTACC	0.269																																						ENST00000379982.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(394-396)gCt>gTt		Rho-related BTB domain containing 3							71.0	75.0	74.0					5																	95072759		2203	4299	6502	SO:0001583	missense	22836	0	0					g.chr5:95072759C>T	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.395C>T	chr5.hg19:g.95072759C>T	ENSP00000369318:p.Ala132Val	0						p.A132V	NM_014899.3	NP_055714.3	1	2	3	2.006602	O94955	RHBT3_HUMAN		3	903	+		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)	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	1	1	hg19	c.395C>T	CCDS4077.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.151418	0.94645	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.71461	-0.57;-0.57	6.0	6.0	0.97389	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84314	0.0512	10	0.62326	D	0.03	-17.047	20.1013	0.97878	0.0:1.0:0.0:0.0	.	132	O94955	RHBT3_HUMAN	V	138;132	ENSP00000423688:A138V;ENSP00000369318:A132V	ENSP00000369318:A132V	A	+	2	0	0	RHOBTB3	95098515	95098515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.841000	0.97950	0.637000	0.83480	GCT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.345003	1	0.170000	NM_014899			55	54		278	274	1		1	0		0	0	72	0		1	9.999738e-01	0	0	0	81	0	55	278
RHOBTB3	22836	broad.mit.edu	37	5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	279	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)			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)		GCTGTAAGCCATGTTTTCATG	0.433																																						ENST00000379982.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(835-837)cAt>cCt		Rho-related BTB domain containing 3							143.0	129.0	134.0					5																	95091253		2203	4300	6503	SO:0001583	missense	22836	0	0					g.chr5:95091253A>C	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.836A>C	chr5.hg19:g.95091253A>C	ENSP00000369318:p.His279Pro	0					GLRX_ENST00000508780.1_Intron	p.H279P	NM_014899.3	NP_055714.3	1	2	3	2.006602	O94955	RHBT3_HUMAN		6	1344	+		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)	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	1	1	hg19	c.836A>C	CCDS4077.1	1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609307	0.46527	.	.	ENSG00000164292	ENST00000379982	T	0.66638	-0.22	6.08	6.08	0.98989	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.214991	0.49916	D	0.000126	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	10	0.27082	T	0.32	-25.0285	16.3126	0.82898	1.0:0.0:0.0:0.0	.	279	O94955	RHBT3_HUMAN	P	279	ENSP00000369318:H279P	ENSP00000369318:H279P	H	+	2	0	0	RHOBTB3	95117009	95117009	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.624000	0.54231	2.333000	0.79357	0.482000	0.46254	CAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_014899			106	103		421	410	1		1	0		0	0	92	0		1	9.999983e-01	0	0	0	77	0	106	421
PCSK1	5122	broad.mit.edu	37	5	95728750	95728750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PCSK1_ENST00000508626.1_Silent_p.D692D|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	739					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)			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)"""	GAAGCAGCCGGTCGTCTCTGT	0.403																																						ENST00000311106.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2215-2217)gaC>gaT		proprotein convertase subtilisin/kexin type 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						163.0	170.0	167.0					5																	95728750		2203	4300	6503	SO:0001819	synonymous_variant	5122	0	0					g.chr5:95728750G>A		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.2217C>T	chr5.hg19:g.95728750G>A		0					PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.D692D|CTD-2337A12.1_ENST00000502645.2_RNA	p.D739D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	1	2	3	2.006602	P29120	NEC1_HUMAN		14	2454	-		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)	B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	1	1	hg19	c.2217C>T	CCDS4081.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	0		2	2	2	0		0	0	235		235	233	1	2.060000	-20.000000	1	0.170000	NM_000439			259	257		1079	1041	0		1	0		0	0	235	0		1	7.852026e-01	0	0	0	14	0	259	1079
PCSK1	5122	broad.mit.edu	37	5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|PCSK1_ENST00000513085.1_Intron|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	325	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)			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)"""	GGTGTAGATGCTGTCTGTGTA	0.577																																						ENST00000311106.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(973-975)aGc>aTc		proprotein convertase subtilisin/kexin type 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						252.0	219.0	230.0					5																	95746599		2203	4300	6503	SO:0001583	missense	5122	0	0					g.chr5:95746599C>A		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.974G>T	chr5.hg19:g.95746599C>A	ENSP00000308024:p.Ser325Ile	0					PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|CTD-2337A12.1_ENST00000502645.2_RNA	p.S325I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	1	2	3	2.006602	P29120	NEC1_HUMAN		8	1211	-		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)	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	1	1	hg19	c.974G>T	CCDS4081.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977431	0.92982	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89485	-2.52;-2.52	5.53	5.53	0.82687	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97406	0.9999	10	0.87932	D	0	-20.7793	19.0469	0.93025	0.0:1.0:0.0:0.0	.	325	P29120	NEC1_HUMAN	I	325;278	ENSP00000308024:S325I;ENSP00000421600:S278I	ENSP00000308024:S325I	S	-	2	0	0	PCSK1	95772355	95772355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.585000	0.79938	AGC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	1		2	2	2	0		0	0	230		230	228	1	2.060000	-20.000000	1	0.170000	NM_000439			167	164		907	896	1		1	0		0	0	230	0		1	4.773903e-01	0	0	0	10	0	167	907
PCSK1	5122	broad.mit.edu	37	5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|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	119					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)			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)"""	TTGAAGAGATTTAGTGCTGAG	0.408																																						ENST00000311106.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(355-357)Aat>Cat		proprotein convertase subtilisin/kexin type 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"						183.0	160.0	168.0					5																	95761565		2203	4300	6503	SO:0001583	missense	5122	0	0					g.chr5:95761565T>G		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.355A>C	chr5.hg19:g.95761565T>G	ENSP00000308024:p.Asn119His	0					PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|CTD-2337A12.1_ENST00000502645.2_RNA	p.N119H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	1	2	3	2.006602	P29120	NEC1_HUMAN		3	592	-		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)	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	1	1	hg19	c.355A>C	CCDS4081.1	1	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059137	0.19987	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.67523	-0.12;-0.27;0.44	5.63	1.59	0.23543	5.63	1.59	0.23543	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.178406	0.64402	D	0.000015	T	0.55940	0.1952	L	0.53561	1.675	0.31961	N	0.608354	B	0.06786	0.001	B	0.06405	0.002	T	0.54516	-0.8282	10	0.20519	T	0.43	-13.2118	10.1792	0.42957	0.0:0.2174:0.0:0.7826	.	119	P29120	NEC1_HUMAN	H	119;72;119	ENSP00000308024:N119H;ENSP00000421600:N72H;ENSP00000427294:N119H	ENSP00000308024:N119H	N	-	1	0	0	PCSK1	95787321	95787321	1.000000	0.71417	0.825000	0.32803	0.590000	0.36582	3.129000	0.50500	0.403000	0.25479	0.533000	0.62120	AAT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_000439			52	51		216	210	1		1	0		0	0	66	0		1	5.493527e-01	0	0	0	9	0	52	216
CAST	831	broad.mit.edu	37	5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C	rs200044442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000341926.3	+	29	2280	c.2118A>C	c.(2116-2118)aaA>aaC	p.K706N	CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N			P20810	ICAL_HUMAN	calpastatin	706					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358																																						ENST00000341926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2116-2118)aaA>aaC		calpastatin							105.0	105.0	105.0					5																	96107374		2203	4300	6503	SO:0001583	missense	831	0	0					g.chr5:96107374A>C	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.2118A>C	chr5.hg19:g.96107374A>C	ENSP00000339914:p.Lys706Asn	0					CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N	p.K706N			1	2	3	2.006602	P20810	ICAL_HUMAN		29	2280	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	1	1	hg19	c.2118A>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252721|2.252721	0.39797|0.39797	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.24151|0.18502	1.93;1.89;1.89;1.88;1.87;1.93;1.9;1.94;1.93;1.94;1.95;1.99;1.94;1.94;2.0;1.9|2.21	5.31|5.31	1.59|1.59	0.23543|0.23543	5.31|5.31	1.59|1.59	0.23543|0.23543	.|.	0.251159|0.251159	0.34046|0.34046	N|N	0.004309|0.004309	T|T	0.22936|0.22936	0.0554|0.0554	M|M	0.65498|0.65498	2.005|2.005	0.49687|0.49687	D|D	0.999817|0.999817	D;D;P;B;P;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.993;0.829;0.437;0.829;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0|.	D;D;B;B;B;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.991;0.977;0.36;0.186;0.36;0.996;0.997;0.997;0.996;0.997;0.997;0.998;0.998;0.99;0.998;0.998|.	T|T	0.02797|0.02797	-1.1109|-1.1109	10|8	0.72032|0.66056	D|D	0.01|0.02	-4.0288|-4.0288	2.8782|2.8782	0.05639|0.05639	0.6117:0.0:0.2025:0.1858|0.6117:0.0:0.2025:0.1858	.|.	634;752;429;433;428;691;671;684;665;706;754;748;770;767;789;693|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|T	693;789;789;770;754;748;767;752;706;691;684;634;671;692;421;429|434	ENSP00000343421:K693N;ENSP00000425721:K789N;ENSP00000379158:K789N;ENSP00000352098:K770N;ENSP00000320319:K754N;ENSP00000379157:K748N;ENSP00000422176:K767N;ENSP00000422677:K752N;ENSP00000339914:K706N;ENSP00000421130:K691N;ENSP00000312523:K684N;ENSP00000425670:K634N;ENSP00000426946:K671N;ENSP00000423638:K692N;ENSP00000425787:K421N;ENSP00000422929:K429N|ENSP00000412374:K434T	ENSP00000312523:K684N|ENSP00000412374:K434T	K|K	+|+	3|2	2|0	2|0	CAST|CAST	96133130|96133130	96133130|96133130	0.824000|0.824000	0.29247|0.29247	0.484000|0.484000	0.27391|0.27391	0.215000|0.215000	0.24574|0.24574	1.298000|1.298000	0.33412|0.33412	0.406000|0.406000	0.25560|0.25560	0.397000|0.397000	0.26171|0.26171	AAA|AAG	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_173062			74	74		304	302	1		1	1		0	0	62	0		1	1	0	364	0	750	0	74	304
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					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)			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)		GAAATTGTTTCCATGGGCACA	0.463																																						ENST00000231368.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(484-486)Cca>Tca		leucyl/cystinyl aminopeptidase							89.0	87.0	88.0					5																	96315306		2203	4300	6503	SO:0001583	missense	4012	0	0					g.chr5:96315306C>T	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.484C>T	chr5.hg19:g.96315306C>T	ENSP00000231368:p.Pro162Ser	0					LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	p.P162S	NM_005575.2	NP_005566.2	1	2	3	2.006602	Q9UIQ6	LCAP_HUMAN		2	1176	+		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)	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	1	1	hg19	c.484C>T	CCDS4087.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04360	3.64;3.64	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.00477	-1.1716	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	162	Q9UIQ6	LCAP_HUMAN	S	162;148	ENSP00000231368:P162S;ENSP00000379117:P148S	ENSP00000231368:P162S	P	+	1	0	0	LNPEP	96341062	96341062	1.000000	0.71417	0.994000	0.49952	0.047000	0.14425	7.252000	0.78309	2.894000	0.99253	0.591000	0.81541	CCA	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_005575			106	104		442	435	1		1	1		0	0	65	0		1	9.758652e-01	0	6	0	21	0	106	442
LNPEP	4012	broad.mit.edu	37	5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	727					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)			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)		AGTGACAAAGACCGAGCCAAC	0.323																																						ENST00000231368.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2179-2181)gAc>gGc		leucyl/cystinyl aminopeptidase							150.0	148.0	149.0					5																	96349496		2203	4300	6503	SO:0001583	missense	4012	0	0					g.chr5:96349496A>G	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.2180A>G	chr5.hg19:g.96349496A>G	ENSP00000231368:p.Asp727Gly	0					LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	p.D727G	NM_005575.2	NP_005566.2	1	2	3	2.006602	Q9UIQ6	LCAP_HUMAN		12	2872	+		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)	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	1	1	hg19	c.2180A>G	CCDS4087.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440289	0.83993	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.10099	2.91;2.91	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.13791	-1.0496	10	0.87932	D	0	.	14.618	0.68562	1.0:0.0:0.0:0.0	.	727	Q9UIQ6	LCAP_HUMAN	G	727;713	ENSP00000231368:D727G;ENSP00000379117:D713G	ENSP00000231368:D727G	D	+	2	0	0	LNPEP	96375252	96375252	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.791000	0.91849	1.979000	0.57680	0.528000	0.53228	GAC	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_005575			152	150		650	642	1		1	1		0	0	139	0		1	9.999952e-01	0	17	0	58	0	152	650
RGMB	285704	broad.mit.edu	37	5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000513185.1	+	3	1316	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	RGMB_ENST00000308234.7_Missense_Mutation_p.R335C			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	294					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612																																						ENST00000513185.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(880-882)Cgt>Tgt		repulsive guidance molecule family member b							44.0	46.0	45.0					5																	98129023		2152	4241	6393	SO:0001583	missense	285704	0	0					g.chr5:98129023C>T	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.880C>T	chr5.hg19:g.98129023C>T	ENSP00000423256:p.Arg294Cys	0					RGMB_ENST00000308234.7_Missense_Mutation_p.R335C	p.R294C			1	2	3	2.006602	Q6NW40	RGMB_HUMAN		3	1316	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	1	1	hg19	c.880C>T		1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580895	0.65992	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.88818	-2.43;-2.43	5.78	5.78	0.91487	5.78	5.78	0.91487	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95388	0.8479	10	0.87932	D	0	-20.8999	19.9851	0.97342	0.0:1.0:0.0:0.0	.	294	Q6NW40	RGMB_HUMAN	C	335;294	ENSP00000308219:R335C;ENSP00000423256:R294C	ENSP00000308219:R335C	R	+	1	0	0	RGMB	98156923	98156923	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	4.911000	0.63328	2.727000	0.93392	0.655000	0.94253	CGT	1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_173670			29	28		104	103	1		1	1		0	0	39	0		1	9.973740e-01	0	8	0	29	0	29	104
CHD1	1105	broad.mit.edu	37	5	98209328	98209328	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1180					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)			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)	AACTATCCTTTAATGCTTTAA	0.353																																						ENST00000284049.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3538-3540)ttA>ttG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						147.0	135.0	139.0					5																	98209328		2203	4300	6503	SO:0001819	synonymous_variant	1105	0	0					g.chr5:98209328T>C	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.3540A>G	chr5.hg19:g.98209328T>C		0					CHD1_ENST00000511067.1_5'Flank	p.L1180L	NM_001270.2	NP_001261.2	1	2	3	2.006602	O14646	CHD1_HUMAN		25	3689	-		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)	Q17RZ3	Silent	SNP	ENST00000284049.3	1	1	hg19	c.3540A>G	CCDS34204.1	1																																																																																								1.763013e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_001270			54	53		209	205	1		1	1		0	0	64	0		1	9.999998e-01	0	34	0	58	0	54	209
TRIM52	84851	broad.mit.edu	37	5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	32					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562																																						ENST00000327767.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(94-96)tCc>tTc		tripartite motif containing 52							66.0	56.0	60.0					5																	180687720		2203	4300	6503	SO:0001583	missense	84851	0	0					g.chr5:180687720G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.95C>T	chr5.hg19:g.180687720G>A	ENSP00000332152:p.Ser32Phe	1					TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA	p.S32F	NM_032765.2	NP_116154.1	1	3	4	2.206214	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	1	399	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)		Missense_Mutation	SNP	ENST00000327767.4	1	1	hg19	c.95C>T	CCDS4467.1	1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014596	0.54468	.	.	ENSG00000183718	ENST00000327767	D	0.95238	-3.65	3.72	3.72	0.42706	3.72	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.96670	0.8913	M	0.77486	2.375	0.47123	D	0.999328	D	0.89917	1.0	D	0.75484	0.986	D	0.96451	0.9334	8	.	.	.	.	13.7957	0.63168	0.0:0.0:1.0:0.0	.	32	Q96A61	TRI52_HUMAN	F	32	ENSP00000332152:S32F	.	S	-	2	0	0	TRIM52	180620326	180620326	0.093000	0.21703	0.112000	0.21494	0.279000	0.26890	1.476000	0.35420	2.041000	0.60428	0.511000	0.50034	TCC	2.571377e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_032765			48	48		221	217	1		1	1		0	0	51	0		1	8.740410e-01	0	3	0	16	0	48	221
PRDM13	59336	broad.mit.edu	37	6	100055036	100055036	+	Silent	SNP	G	G	A	rs201201921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	42	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACCGCAGGGAGCCCGGGCCTA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16071	0.0		0.001	False		,,,				2504	0.0					ENST00000369215.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(124-126)gaG>gaA		PR domain containing 13							47.0	56.0	53.0					6																	100055036		2019	4188	6207	SO:0001819	synonymous_variant	59336	0	0					g.chr6:100055036G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.126G>A	chr6.hg19:g.100055036G>A		0						p.E42E	NM_021620.3	NP_067633.2	0	0	0	1.973144	Q9H4Q3	PRD13_HUMAN		1	431	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	1	1	hg19	c.126G>A	CCDS43487.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				61	61		353	349	0		1			0	0	81	0		1	0	0	0	0	0	0	61	353
PRDM13	59336	broad.mit.edu	37	6	100057116	100057116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369215.4	+	3	635	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	110	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGACAGTGTGGTATTCTAACT	0.522																																						ENST00000369215.4	0.790000	0.170000	6.000000e-01	2.800000e-01	0.420000	0.448143	0.420000	0.390000																										0				17						c.(328-330)tgG>tgT		PR domain containing 13							73.0	79.0	77.0					6																	100057116		2124	4250	6374	SO:0001583	missense	59336	0	0					g.chr6:100057116G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.330G>T	chr6.hg19:g.100057116G>T	ENSP00000358217:p.Trp110Cys	0						p.W110C	NM_021620.3	NP_067633.2	0	0	0	1.973144	Q9H4Q3	PRD13_HUMAN		3	635	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	0	1	hg19	c.330G>T	CCDS43487.1	0	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509782	0.85282	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85702	-2.02;-2.02	5.65	5.65	0.86999	5.65	5.65	0.86999	SET domain (2);	0.000000	0.36893	N	0.002347	D	0.92828	0.7719	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93241	0.6626	10	0.87932	D	0	-6.7675	19.3826	0.94543	0.0:0.0:1.0:0.0	.	110	Q9H4Q3	PRD13_HUMAN	C	110;120	ENSP00000358217:W110C;ENSP00000358216:W120C	ENSP00000358216:W120C	W	+	3	0	0	PRDM13	100163837	100163837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.374000	0.97172	2.689000	0.91719	0.558000	0.71614	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-8.408831	1	0.170000				6	6		168	164	0		1			0	0	34	0		9.632236e-01	0	0	0	0	0	0	6	168
PRDM13	59336	broad.mit.edu	37	6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	555	Poly-Gly.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ggcggcgggaggcaccggggg	0.701																																						ENST00000369215.4	1.000000	0.640000	1	8.600000e-01	0.990000	0.950942	0.990000	1.000000																										0				17						c.(1663-1665)Ggc>Tgc		PR domain containing 13							7.0	12.0	10.0					6																	100062174		1962	4076	6038	SO:0001583	missense	59336	0	0					g.chr6:100062174G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1663G>T	chr6.hg19:g.100062174G>T	ENSP00000358217:p.Gly555Cys	0						p.G555C	NM_021620.3	NP_067633.2	0	0	0	1.973144	Q9H4Q3	PRD13_HUMAN		4	1968	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	0	1	hg19	c.1663G>T	CCDS43487.1	1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159080	0.21454	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.08546	3.08;3.08	3.73	0.86	0.19042	3.73	0.86	0.19042	.	0.843515	0.09643	N	0.774793	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	P	0.50369	0.934	B	0.40901	0.343	T	0.42310	-0.9459	10	0.72032	D	0.01	-4.5986	4.1491	0.10230	0.1901:0.0:0.4939:0.316	.	555	Q9H4Q3	PRD13_HUMAN	C	555;565	ENSP00000358217:G555C;ENSP00000358216:G565C	ENSP00000358216:G565C	G	+	1	0	0	PRDM13	100168895	100168895	0.918000	0.31147	0.000000	0.03702	0.229000	0.25112	0.923000	0.28757	0.053000	0.16036	0.561000	0.74099	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	1		2	2	2	0		0	0	13		13	10	1	2.060000	-19.999960	1	0.170000				12	11		109	107	0		1			0	0	13	0		9.991573e-01	0	0	0	0	0	0	12	109
MCHR2	84539	broad.mit.edu	37	6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)		GCACTACAGGCAAATTGGTTA	0.468																																						ENST00000281806.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(355-357)Gcc>Acc		melanin-concentrating hormone receptor 2							151.0	161.0	157.0					6																	100395675		2203	4300	6503	SO:0001583	missense	84539	0	0					g.chr6:100395675C>T	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.355G>A	chr6.hg19:g.100395675C>T	ENSP00000281806:p.Ala119Thr	0					MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	p.A119T	NM_001040179.1	NP_001035269.1	0	0	0	1.973144	Q969V1	MCHR2_HUMAN		3	669	-		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)	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	1	1	hg19	c.355G>A	CCDS5044.1	1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.673964	0.14841	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.76060	-0.99;-0.99;-0.99	4.57	4.57	0.56435	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.50017	0.1591	L	0.35249	1.045	0.40742	D	0.982849	B	0.27140	0.169	B	0.38194	0.267	T	0.51834	-0.8655	10	0.02654	T	1	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	119	Q969V1	MCHR2_HUMAN	T	119	ENSP00000403490:A119T;ENSP00000281806:A119T;ENSP00000358214:A119T	ENSP00000281806:A119T	A	-	1	0	0	MCHR2	100502396	100502396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.089000	0.63090	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	1	0	1		2	2	2	0		0	0	184		184	183	1	2.060000	-20.000000	1	0.170000	NM_032503			142	138		749	735	1		1			0	0	184	0		1	0	0	0	0	0	0	142	749
SIM1	6492	broad.mit.edu	37	6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	169					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632																																						ENST00000369208.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998101	0.990000	1.000000																										0				79						c.(505-507)Gcc>Acc		single-minded family bHLH transcription factor 1							49.0	43.0	45.0					6																	100897277		2203	4300	6503	SO:0001583	missense	6492	0	0					g.chr6:100897277C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.505G>A	chr6.hg19:g.100897277C>T	ENSP00000358210:p.Ala169Thr	0					SIM1_ENST00000262901.4_Missense_Mutation_p.A169T	p.A169T			0	0	0	1.973144	P81133	SIM1_HUMAN		6	1287	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	1	1	hg19	c.505G>A	CCDS5045.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398956	0.83120	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.13307	2.6;2.6	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.287742	0.38058	N	0.001823	T	0.18467	0.0443	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	10	0.10636	T	0.68	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	169	P81133	SIM1_HUMAN	T	169	ENSP00000358210:A169T;ENSP00000262901:A169T	ENSP00000262901:A169T	A	-	1	0	0	SIM1	101003998	101003998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.602000	0.87976	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-3.232585	1	0.170000	NM_005068			21	21		133	130	1		1	0		0	0	36	0		9.999982e-01	5.570302e-02	0	0	0	3	0	21	133
ASCC3	10973	broad.mit.edu	37	6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1619	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		CCAGCATGATGCATTCCTATC	0.383																																						ENST00000369162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(4855-4857)Cat>Tat		activating signal cointegrator 1 complex subunit 3							105.0	96.0	99.0					6																	101054895		2202	4300	6502	SO:0001583	missense	10973	0	0					g.chr6:101054895G>A	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.4855C>T	chr6.hg19:g.101054895G>A	ENSP00000358159:p.His1619Tyr	0						p.H1619Y	NM_006828.2	NP_006819.2	0	0	0	1.973144	Q8N3C0	ASCC3_HUMAN		31	5199	-		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)	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	1	1	hg19	c.4855C>T	CCDS5046.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923127	0.92319	.	.	ENSG00000112249	ENST00000369162	D	0.91843	-2.92	5.83	5.83	0.93111	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93604	0.6933	10	0.21014	T	0.42	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1619	Q8N3C0	HELC1_HUMAN	Y	1619	ENSP00000358159:H1619Y	ENSP00000358159:H1619Y	H	-	1	0	0	ASCC3	101161616	101161616	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.693000	0.98684	2.753000	0.94483	0.585000	0.79938	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_006828			50	48		231	226	1		1	1		0	0	42	0		1	9.999997e-01	0	31	0	77	0	50	231
ASCC3	10973	broad.mit.edu	37	6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1480	Helicase ATP-binding 2. {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)			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)		GGCTTTTCTGTGTGTGATGAG	0.373																																						ENST00000369162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(4438-4440)Aca>Gca		activating signal cointegrator 1 complex subunit 3							113.0	109.0	110.0					6																	101075801		2203	4300	6503	SO:0001583	missense	10973	0	0					g.chr6:101075801T>C	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.4438A>G	chr6.hg19:g.101075801T>C	ENSP00000358159:p.Thr1480Ala	0						p.T1480A	NM_006828.2	NP_006819.2	0	0	0	1.973144	Q8N3C0	ASCC3_HUMAN		28	4782	-		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)	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	1	1	hg19	c.4438A>G	CCDS5046.1	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600735	0.87055	.	.	ENSG00000112249	ENST00000369162	T	0.58060	0.36	6.17	6.17	0.99709	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59397	-0.7462	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1480	Q8N3C0	HELC1_HUMAN	A	1480	ENSP00000358159:T1480A	ENSP00000358159:T1480A	T	-	1	0	0	ASCC3	101182522	101182522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_006828			52	50		242	236	1		1	1		0	0	52	0		1	9.998515e-01	0	12	0	52	0	52	242
ASCC3	10973	broad.mit.edu	37	6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	486	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)			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)		GTAGGCAGTCTCAAACACTAT	0.398																																						ENST00000369162.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1456-1458)gAg>gGg		activating signal cointegrator 1 complex subunit 3							178.0	162.0	167.0					6																	101215160		2203	4300	6503	SO:0001583	missense	10973	0	0					g.chr6:101215160T>C	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.1457A>G	chr6.hg19:g.101215160T>C	ENSP00000358159:p.Glu486Gly	0					ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	p.E486G	NM_006828.2	NP_006819.2	0	0	0	1.973144	Q8N3C0	ASCC3_HUMAN		9	1801	-		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)	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	1	1	hg19	c.1457A>G	CCDS5046.1	1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472368	0.63737	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.15952	2.38;2.38	5.25	5.25	0.73442	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117651	0.56097	D	0.000029	T	0.17023	0.0409	M	0.83603	2.65	0.80722	D	1	B;B	0.33940	0.183;0.433	B;B	0.35353	0.184;0.201	T	0.02257	-1.1187	10	0.52906	T	0.07	.	15.4376	0.75157	0.0:0.0:0.0:1.0	.	486;486	E7EW23;Q8N3C0	.;HELC1_HUMAN	G	486	ENSP00000358159:E486G;ENSP00000430769:E486G	ENSP00000358159:E486G	E	-	2	0	0	ASCC3	101321881	101321881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.122000	0.65172	0.482000	0.46254	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_006828			107	106		500	492	1		1	1		0	0	83	0		1	9.982001e-01	0	12	0	34	0	107	500
GRIK2	2898	broad.mit.edu	37	6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000421544.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369138.1_Missense_Mutation_p.L156I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	156					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)			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)	CTTCTCTTCACTCAGCCGTGC	0.468																																						ENST00000421544.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(466-468)Ctc>Atc		glutamate receptor, ionotropic, kainate 2	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)						96.0	96.0	96.0					6																	102074437		2203	4300	6503	SO:0001583	missense	2898	0	0					g.chr6:102074437C>A		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.466C>A	chr6.hg19:g.102074437C>A	ENSP00000397026:p.Leu156Ile	0					GRIK2_ENST00000369138.1_Missense_Mutation_p.L156I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I	p.L156I	NM_021956.4	NP_068775.1	0	0	0	1.973144	Q13002	GRIK2_HUMAN		3	956	+		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)	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	1	1	hg19	c.466C>A	CCDS5048.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352039	0.41700	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.79	4.91	0.64330	5.79	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.31752	0.955	0.40380	D	0.979436	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.30401	0.07;0.115;0.049	T	0.65265	-0.6210	10	0.19590	T	0.45	.	16.1759	0.81851	0.1345:0.8655:0.0:0.0	.	156;156;156	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	156;156;156;156;156;156;156;107;118	ENSP00000397026:L156I;ENSP00000405596:L156I;ENSP00000358134:L156I;ENSP00000351128:L156I;ENSP00000358133:L156I;ENSP00000313276:L156I;ENSP00000358130:L107I	ENSP00000313276:L156I	L	+	1	0	0	GRIK2	102181130	102181130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000				76	75		355	353	1		1	0		0	0	89	0		1	3.196007e-02	0	0	0	2	0	76	355
GRIK2	2898	broad.mit.edu	37	6	102266352	102266352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000421544.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000369138.1_Silent_p.T437T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	437					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)			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)	TTGTTACCACCATTTTGGTAA	0.383																																						ENST00000421544.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				83						c.(1309-1311)acC>acA		glutamate receptor, ionotropic, kainate 2	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)						181.0	163.0	169.0					6																	102266352		2203	4300	6503	SO:0001819	synonymous_variant	2898	0	0					g.chr6:102266352C>A		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.1311C>A	chr6.hg19:g.102266352C>A		0					GRIK2_ENST00000369138.1_Silent_p.T437T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T	p.T437T	NM_021956.4	NP_068775.1	0	0	0	1.973144	Q13002	GRIK2_HUMAN		9	1801	+		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)	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	1	1	hg19	c.1311C>A	CCDS5048.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-16.915120	1	0.170000				27	27		123	122	1		1	0		0	0	40	0		1	9.004658e-02	0	0	0	3	0	27	123
TFAP2A	7020	broad.mit.edu	37	6	10419699	10419699	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10419699C>A	ENST00000319516.4	-	0	172					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTCTGCGCTCCTGGCGACTGG	0.632																																						ENST00000319516.4	1.000000	0.580000	9.700000e-01	6.900000e-01	0.820000	0.827650	0.820000	1.000000																										0				13								transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							56.0	64.0	61.0					6																	10419699		1961	4123	6084			7020	0	0					g.chr6:10419699C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000319516.4:c.-16G>T	chr6.hg19:g.10419699C>A		0							NM_001042425.1	NP_001035890.1	0	0	0	1.967613	P05549	AP2A_HUMAN		0	172	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	Q13777|Q5TAV5|Q8N1C6	Translation_Start_Site	SNP	ENST00000319516.4	0	1	hg19		CCDS43422.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TFAP2A-003	KNOWN	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039817.2	0	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.920853	1	0.170000	NM_003220			33	33		430	426	0		1			0	0	80	0		1	0	0	0	0	0	0	33	430
GRIK2	2898	broad.mit.edu	37	6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000421544.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000369138.1_Missense_Mutation_p.A684V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	684					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)			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)	GAATATGGAGCAGTAGAGGAT	0.393																																						ENST00000421544.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999956	0.990000	1.000000																										0				83						c.(2050-2052)gCa>gTa		glutamate receptor, ionotropic, kainate 2	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)						99.0	92.0	94.0					6																	102376473		2203	4300	6503	SO:0001583	missense	2898	0	0					g.chr6:102376473C>T		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.2051C>T	chr6.hg19:g.102376473C>T	ENSP00000397026:p.Ala684Val	0					GRIK2_ENST00000369138.1_Missense_Mutation_p.A684V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V	p.A684V	NM_021956.4	NP_068775.1	0	0	0	1.973144	Q13002	GRIK2_HUMAN		13	2541	+		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)	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	1	1	hg19	c.2051C>T	CCDS5048.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625228	0.46840	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.9	5.9	0.94986	5.9	5.9	0.94986	Ionotropic glutamate receptor (2);	0.056708	0.64402	D	0.000001	T	0.02455	0.0075	N	0.03881	-0.34	0.45227	D	0.998232	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.15052	0.012;0.012;0.007	T	0.51537	-0.8693	10	0.48119	T	0.1	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	684;684;684	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	684;684;684;608;684;635	ENSP00000397026:A684V;ENSP00000405596:A684V;ENSP00000358134:A684V;ENSP00000358133:A608V;ENSP00000313276:A684V;ENSP00000358130:A635V	ENSP00000313276:A684V	A	+	2	0	0	GRIK2	102483166	102483166	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	5.612000	0.67681	2.786000	0.95864	0.563000	0.77884	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				38	37		221	218	1		1	0		0	0	37	0		1	2.263954e-02	0	0	0	2	0	38	221
HACE1	57531	broad.mit.edu	37	6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000369125.2_Missense_Mutation_p.E565A|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	780	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			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)		CCTTACCAATTCATATTCATC	0.343																																						ENST00000262903.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2338-2340)gAa>gCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							76.0	73.0	74.0					6																	105198220		2203	4300	6503	SO:0001583	missense	57531	0	0					g.chr6:105198220T>G	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.2339A>C	chr6.hg19:g.105198220T>G	ENSP00000262903:p.Glu780Ala	0					HACE1_ENST00000369125.2_Missense_Mutation_p.E565A|HACE1_ENST00000517995.1_5'UTR	p.E780A	NM_020771.3	NP_065822.2	0	0	0	1.973144	Q8IYU2	HACE1_HUMAN		20	2615	-		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)	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	1	1	hg19	c.2339A>C	CCDS5050.1	1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443659	0.83993	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.89840	3.065	0.34930	D	0.749238	D;D;D;D	0.89917	1.0;1.0;0.979;0.974	D;D;D;D	0.97110	1.0;0.999;0.973;0.953	D	0.85522	0.1204	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	565;269;780;433	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	A	780;565	ENSP00000262903:E780A;ENSP00000358121:E565A	ENSP00000262903:E780A	E	-	2	0	0	HACE1	105304913	105304913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.000000	0.58554	0.460000	0.39030	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000	XM_045095			31	31		105	105	1		1	1		0	0	28	0		1	9.989533e-01	0	15	0	25	0	31	105
GCNT2	2651	broad.mit.edu	37	6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	194					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)			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)		CTGCGGGCAAGACTTTCCCCT	0.527																																						ENST00000379597.3	1.000000	0.710000	1	8.600000e-01	0.990000	0.952506	0.990000	1.000000																										0				12						c.(580-582)Gac>Tac		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							45.0	48.0	47.0					6																	10529724		2203	4300	6503	SO:0001583	missense	2651	0	0					g.chr6:10529724G>T	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.580G>T	chr6.hg19:g.10529724G>T	ENSP00000368917:p.Asp194Tyr	0					GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y|GCNT2_ENST00000397423.2_Intron	p.D194Y			0	0	0	1.967613	Q8N0V5	GNT2A_HUMAN		1	1136	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		Missense_Mutation	SNP	ENST00000379597.3	1	1	hg19	c.580G>T	CCDS34338.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167435	0.78339	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73714	-0.3896	10	0.87932	D	0	-15.1425	19.2323	0.93845	0.0:0.0:1.0:0.0	.	194;193	Q8N0V5;Q08M29	GNT2A_HUMAN;.	Y	194	ENSP00000419411:D194Y;ENSP00000368917:D194Y	ENSP00000368917:D194Y	D	+	1	0	0	GCNT2	10637710	10637710	1.000000	0.71417	0.979000	0.43373	0.542000	0.35054	9.640000	0.98453	2.636000	0.89361	0.655000	0.94253	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_145649			26	26		260	256	1		1	0		0	0	65	0		9.999999e-01	7.402919e-02	0	0	0	5	0	26	260
HACE1	57531	broad.mit.edu	37	6	105198346	105198346	+	Splice_Site	SNP	G	G	A	rs374813736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000369125.2_Splice_Site_p.A523V|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			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)		GACGTACTCCGCCTGTTGAAA	0.338																																						ENST00000262903.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2212-2214)gCg>gTg		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1		G	VAL/ALA	0,4406		0,0,2203	82.0	75.0	78.0		2213	4.1	1.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	HACE1	NM_020771.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	738/910	105198346	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57531	4	121408	35				g.chr6:105198346G>A	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.2212-1C>T	chr6.hg19:g.105198346G>A		0					HACE1_ENST00000369125.2_Splice_Site_p.A523V|HACE1_ENST00000517995.1_5'UTR	p.A738V	NM_020771.3	NP_065822.2	0	0	0	1.973144	Q8IYU2	HACE1_HUMAN		20	2489	-		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)	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	1	0	hg19	c.2213C>T	CCDS5050.1	1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001598	0.35320	0.0	1.16E-4	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58358	0.34;0.34	5.0	4.11	0.48088	5.0	4.11	0.48088	HECT (4);	0.104471	0.64402	D	0.000004	T	0.27205	0.0667	N	0.21545	0.675	0.28259	N	0.924912	P;B;D;D	0.56035	0.67;0.318;0.974;0.968	P;B;P;B	0.46917	0.531;0.083;0.469;0.339	T	0.09684	-1.0663	10	0.27082	T	0.32	.	14.9715	0.71238	0.0:0.0:0.8559:0.1441	.	523;227;738;391	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	V	738;523	ENSP00000262903:A738V;ENSP00000358121:A523V	ENSP00000262903:A738V	A	-	2	0	0	HACE1	105305039	105305039	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	6.021000	0.70832	1.196000	0.43129	0.563000	0.77884	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	XM_045095	Missense_Mutation		36	35		144	141	1		1	1		0	0	29	0		1	9.769280e-01	0	7	0	20	0	36	144
BVES	11149	broad.mit.edu	37	6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000446408.2_Missense_Mutation_p.A349V|BVES_ENST00000336775.5_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	349					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)			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)				ATTTGGAGATGCCGGTTCAAA	0.453																																						ENST00000314641.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1045-1047)gCa>gTa		blood vessel epicardial substance							223.0	192.0	202.0					6																	105549001		2203	4300	6503	SO:0001583	missense	11149	0	0					g.chr6:105549001G>A	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.1046C>T	chr6.hg19:g.105549001G>A	ENSP00000313172:p.Ala349Val	0					BVES_ENST00000446408.2_Missense_Mutation_p.A349V|BVES_ENST00000336775.5_Missense_Mutation_p.A349V	p.A349V	NM_001199563.1	NP_001186492.1	0	0	0	1.973144	Q8NE79	POPD1_HUMAN		8	1262	-		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)	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	1	1	hg19	c.1046C>T	CCDS5051.1	1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726162	0.30593	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17691	2.26;2.26;2.26	5.3	-5.02	0.02982	5.3	-5.02	0.02982	.	1.955520	0.02132	N	0.056510	T	0.01287	0.0042	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37641	-0.9697	10	0.11794	T	0.64	-11.7194	8.1452	0.31108	0.2685:0.0:0.5878:0.1437	.	349	Q8NE79	POPD1_HUMAN	V	349	ENSP00000313172:A349V;ENSP00000337259:A349V;ENSP00000397310:A349V	ENSP00000313172:A349V	A	-	2	0	0	BVES	105655694	105655694	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.463000	0.02361	-0.393000	0.07739	-0.300000	0.09419	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-4.066694	1	0.170000	NM_147147			77	77		275	269	1		1	0		0	0	53	0		1	6.198377e-01	0	0	0	9	0	77	275
PREP	5550	broad.mit.edu	37	6	105726037	105726037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	705					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)			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)	TCCAGTCGACGTTCAGGCACC	0.552																																						ENST00000369110.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2113-2115)aaC>aaT		prolyl endopeptidase	Oxytocin(DB00107)						188.0	180.0	183.0					6																	105726037		2203	4300	6503	SO:0001819	synonymous_variant	5550	43	121412	53				g.chr6:105726037G>A		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.2115C>T	chr6.hg19:g.105726037G>A		0					RP3-355L5.4_ENST00000452363.1_RNA	p.N705N	NM_002726.4	NP_002717.3	0	0	0	1.973144	P48147	PPCE_HUMAN		15	2307	-		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)	Q8N6D4	Silent	SNP	ENST00000369110.3	1	1	hg19	c.2115C>T	CCDS5053.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1	1	0	1		2	2	2	0		0	0	218		218	215	1	2.060000	-20.000000	1	0.170000				201	196		860	843	0		1	1		0	0	218	0		1	1	0	182	0	164	0	201	860
PRDM1	639	broad.mit.edu	37	6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369096.4	+	5	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S|PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555	Interaction with PIAS1.				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)			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)		AACAAAAGAAACATGACCGGC	0.547			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6q21	6q21	639	D, N, Mis, F, S	"""PR domain containing 1, with ZNF domain"""				L	L			DLBCL		0				94						c.(1663-1665)aAc>aGc		PR domain containing 1, with ZNF domain							57.0	58.0	57.0					6																	106553699		2203	4300	6503	SO:0001583	missense	639	0	0					g.chr6:106553699A>G		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.1664A>G	chr6.hg19:g.106553699A>G	ENSP00000358092:p.Asn555Ser	0					PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	p.N555S	NM_001198.3	NP_001189.2	0	0	0	1.973144	O75626	PRDM1_HUMAN		5	1898	+	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)	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	1	1	hg19	c.1664A>G	CCDS5054.2	1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674326	0.47781	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06687	3.29;3.27;3.29	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.125824	0.85682	D	0.000000	T	0.04363	0.0120	L	0.48362	1.52	0.51012	D	0.999903	B;B	0.28128	0.112;0.201	B;B	0.27715	0.053;0.082	T	0.35724	-0.9777	10	0.22706	T	0.39	-47.0413	16.0421	0.80691	1.0:0.0:0.0:0.0	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	S	519;555;518;421	ENSP00000358087:N519S;ENSP00000358092:N555S;ENSP00000358085:N421S	ENSP00000358085:N421S	N	+	2	0	0	PRDM1	106660392	106660392	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	4.211000	0.58507	2.192000	0.70111	0.533000	0.62120	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000				60	59		302	292	1		1	1		0	0	78	0		1	9.999539e-01	0	14	0	62	0	60	302
PRDM1	639	broad.mit.edu	37	6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369096.4	+	7	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L|PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	665					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)			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)		AAGGTGTGCCCTGCCAAGTTC	0.542			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6q21	6q21	639	D, N, Mis, F, S	"""PR domain containing 1, with ZNF domain"""				L	L			DLBCL		0				94						c.(1993-1995)cCt>cTt		PR domain containing 1, with ZNF domain							115.0	116.0	116.0					6																	106554877		2203	4300	6503	SO:0001583	missense	639	0	0					g.chr6:106554877C>T		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.1994C>T	chr6.hg19:g.106554877C>T	ENSP00000358092:p.Pro665Leu	0					PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	p.P665L	NM_001198.3	NP_001189.2	0	0	0	1.973144	O75626	PRDM1_HUMAN		7	2228	+	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)	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	1	1	hg19	c.1994C>T	CCDS5054.2	1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535259	0.64972	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.21;3.21;3.21	6.06	6.06	0.98353	6.06	6.06	0.98353	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	0.06917	0.0176	L	0.35414	1.06	0.80722	D	1	B;B	0.28128	0.1;0.201	B;B	0.36092	0.155;0.217	T	0.24977	-1.0145	10	0.72032	D	0.01	-14.8534	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;665	Q86WM7;O75626	.;PRDM1_HUMAN	L	629;665;628;531	ENSP00000358087:P629L;ENSP00000358092:P665L;ENSP00000358085:P531L	ENSP00000358085:P531L	P	+	2	0	0	PRDM1	106661570	106661570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.882000	0.98803	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-3.001059	1	0.170000				152	151		649	636	1		1	1		0	0	150	0		1	9.999582e-01	0	4	0	59	0	152	649
AIM1	202	broad.mit.edu	37	6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		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)				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)		GCACAAGACATCCCCACCACT	0.483																																						ENST00000369066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1288-1290)aTc>aCc		absent in melanoma 1							103.0	97.0	99.0					6																	106967596		2203	4300	6503	SO:0001583	missense	202	0	0					g.chr6:106967596T>C	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.1289T>C	chr6.hg19:g.106967596T>C	ENSP00000358062:p.Ile430Thr	0						p.I430T	NM_001624.2	NP_001615	0	0	0	1.973144	Q9UMX9	S45A2_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	2	1776	+	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)	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	1	1	hg19	c.1289T>C	CCDS34506.1	1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752937	0.31046	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.84	-7.45	0.01374	5.84	-7.45	0.01374	.	1.852220	0.02798	N	0.122911	T	0.25457	0.0619	N	0.25647	0.755	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	10	0.09590	T	0.72	.	6.5901	0.22642	0.1018:0.1453:0.5885:0.1644	.	430	Q9Y4K1	AIM1_HUMAN	T	838;430	ENSP00000358062:I430T	ENSP00000285105:I838T	I	+	2	0	0	AIM1	107074289	107074289	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.901000	0.04093	-0.506000	0.06558	0.533000	0.62120	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				84	80		353	347	1		1	1		0	0	95	0		1	9.999978e-01	0	45	0	36	0	84	353
PAK1IP1	55003	broad.mit.edu	37	6	10697608	10697608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10697608T>C	ENST00000379568.3	+	2	427	c.136T>C	c.(136-138)Tca>Cca	p.S46P	C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000379586.1_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000503680.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	46					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGCCTCCTTGTCAGCAGTAGC	0.428																																						ENST00000379568.3	0.340000	0.120000	2.800000e-01	1.600000e-01	0.210000	0.228627	0.210000	0.220000																										0				12						c.(136-138)Tca>Cca		PAK1 interacting protein 1							211.0	212.0	212.0					6																	10697608		2203	4300	6503	SO:0001583	missense	55003	0	0					g.chr6:10697608T>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.136T>C	chr6.hg19:g.10697608T>C	ENSP00000368887:p.Ser46Pro	0					C6orf52_ENST00000379586.1_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000460742.2_5'Flank	p.S46P	NM_017906.2	NP_060376.2	0	0	0	1.967613	Q9NWT1	PK1IP_HUMAN		2	427	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	0	1	hg19	c.136T>C	CCDS34339.1	0	.	.	.	.	.	.	.	.	.	.	T	19.12	3.764973	0.69878	.	.	ENSG00000111845	ENST00000379568	T	0.61859	0.07	5.45	5.45	0.79879	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182898	0.48767	D	0.000172	T	0.67979	0.2951	M	0.79805	2.47	0.45648	D	0.998575	D	0.69078	0.997	D	0.70227	0.968	T	0.68780	-0.5318	10	0.30854	T	0.27	-14.3107	13.4803	0.61332	0.0:0.0:0.0:1.0	.	46	Q9NWT1	PK1IP_HUMAN	P	46	ENSP00000368887:S46P	ENSP00000368887:S46P	S	+	1	0	0	PAK1IP1	10805594	10805594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.817000	0.55668	2.066000	0.61787	0.528000	0.53228	TCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	0	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-3.029676	1	0.170000	NM_017906			16	16		838	821	0		1	1		0	0	147	0		9.999199e-01	4.766527e-01	0	2	0	80	0	16	838
AIM1	202	broad.mit.edu	37	6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		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)				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)		ACGGCTTTCAGTACTTCTCAG	0.448																																						ENST00000369066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2587-2589)aGt>aAt		absent in melanoma 1							71.0	74.0	73.0					6																	106968895		2203	4300	6503	SO:0001583	missense	202	0	0					g.chr6:106968895G>A	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.2588G>A	chr6.hg19:g.106968895G>A	ENSP00000358062:p.Ser863Asn	0						p.S863N	NM_001624.2	NP_001615	0	0	0	1.973144	Q9UMX9	S45A2_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	2	3075	+	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)	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	1	1	hg19	c.2588G>A	CCDS34506.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596516	0.46318	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72615	-0.67	5.99	5.12	0.69794	5.99	5.12	0.69794	.	1.354340	0.04133	N	0.318282	T	0.51958	0.1705	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.29785	0.107	T	0.54289	-0.8316	10	0.44086	T	0.13	.	10.16	0.42847	0.1977:0.0:0.8023:0.0	.	863	Q9Y4K1	AIM1_HUMAN	N	1271;863	ENSP00000358062:S863N	ENSP00000285105:S1271N	S	+	2	0	0	AIM1	107075588	107075588	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	1.573000	0.36472	1.544000	0.49359	0.655000	0.94253	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000				83	81		319	314	1		1	1		0	0	71	0		1	1	0	48	0	66	0	83	319
TMEM14B	81853	broad.mit.edu	37	6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000379542.5	+	4	303	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000467317.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|RNA5SP203_ENST00000410451.1_RNA	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	46						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGCTCTTCGGCAGTCTAGC	0.542																																						ENST00000379542.5	0.440000	0.130000	3.500000e-01	1.800000e-01	0.250000	0.272616	0.250000	0.250000																										0				11						c.(136-138)Ggc>Agc		transmembrane protein 14B							130.0	114.0	120.0					6																	10751401		2202	4300	6502	SO:0001583	missense	81853	0	0					g.chr6:10751401G>A	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.136G>A	chr6.hg19:g.10751401G>A	ENSP00000368858:p.Gly46Ser	0					TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000467317.1_Missense_Mutation_p.G46S|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S	p.G46S	NM_030969.3	NP_112231.3	0	0	0	1.967613	Q9NUH8	TM14B_HUMAN		4	303	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	ENST00000379542.5	1	1	hg19	c.136G>A	CCDS4515.1	0	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625308	0.46840	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.66815	-0.23;-0.23;-0.23	4.01	3.14	0.36123	4.01	3.14	0.36123	.	0.103324	0.64402	D	0.000003	T	0.63474	0.2514	M	0.70275	2.135	0.80722	D	1	P	0.51791	0.948	P	0.52267	0.694	T	0.67229	-0.5723	10	0.52906	T	0.07	.	11.473	0.50280	0.0903:0.0:0.9097:0.0	.	46	Q9NUH8	TM14B_HUMAN	S	46	ENSP00000368858:G46S;ENSP00000418730:G46S;ENSP00000420658:G46S	ENSP00000368858:G46S	G	+	1	0	0	TMEM14B	10859387	10859387	1.000000	0.71417	0.040000	0.18447	0.008000	0.06430	7.238000	0.78173	1.037000	0.40024	0.484000	0.47621	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	0	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-2.515413	1	0.170000	NM_030969			10	10		450	442	0		1	1		0	0	118	0		9.966634e-01	9.982255e-01	0	21	0	489	0	10	450
BEND3	57673	broad.mit.edu	37	6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000369042.1	-	4	1681	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000429433.2_Missense_Mutation_p.D497E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672																																						ENST00000369042.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(1489-1491)gaC>gaA		BEN domain containing 3							31.0	29.0	29.0					6																	107390904		2202	4298	6500	SO:0001583	missense	57673	0	0					g.chr6:107390904G>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1491C>A	chr6.hg19:g.107390904G>T	ENSP00000358038:p.Asp497Glu	0					BEND3_ENST00000429433.2_Missense_Mutation_p.D497E	p.D497E			0	0	0	1.973144	Q5T5X7	BEND3_HUMAN		4	1681	-			A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	1	1	hg19	c.1491C>A	CCDS34507.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741071	0.30865	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.052952	0.85682	D	0.000000	T	0.16981	0.0408	N	0.11560	0.145	0.38325	D	0.943639	B	0.23316	0.083	B	0.22386	0.039	T	0.07158	-1.0787	9	0.31617	T	0.26	-25.2658	9.3142	0.37924	0.1577:0.0:0.8423:0.0	.	497	Q5T5X7	BEND3_HUMAN	E	497	.	ENSP00000358038:D497E	D	-	3	2	2	BEND3	107497597	107497597	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.922000	0.28734	2.625000	0.88918	0.561000	0.74099	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_020913			47	47		236	234	1		1	1		0	0	52	0		1	7.651193e-02	0	2	0	1	0	47	236
SOBP	55084	broad.mit.edu	37	6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											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)		GAGGTGAAAAGCTTCTGCAGC	0.507																																						ENST00000317357.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(514-516)aGc>aTc		sine oculis binding protein homolog (Drosophila)							120.0	125.0	123.0					6																	107854756		1952	4149	6101	SO:0001583	missense	55084	0	0					g.chr6:107854756G>T	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.515G>T	chr6.hg19:g.107854756G>T	ENSP00000318900:p.Ser172Ile	0						p.S172I	NM_018013.3	NP_060483.3	0	0	0	1.973144				4	1174	+		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)		Missense_Mutation	SNP	ENST00000317357.5	1	1	hg19	c.515G>T	CCDS43488.1	1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725865	0.69074	.	.	ENSG00000112320	ENST00000317357	T	0.24538	1.85	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20685	0.6	0.80722	D	1	P	0.49783	0.928	P	0.51135	0.66	T	0.02365	-1.1170	10	0.23891	T	0.37	-14.0437	19.5093	0.95135	0.0:0.0:1.0:0.0	.	172	A7XYQ1	SOBP_HUMAN	I	172	ENSP00000318900:S172I	ENSP00000318900:S172I	S	+	2	0	0	SOBP	107961449	107961449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.615000	0.88500	0.467000	0.42956	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000	NM_018013			160	158		627	618	1		1	0		0	0	130	0		1	7.342914e-01	0	0	0	12	0	160	627
SOBP	55084	broad.mit.edu	37	6	107955419	107955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											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)		CCATGCTATCGCCCCACATCC	0.751																																						ENST00000317357.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(1369-1371)tcG>tcA		sine oculis binding protein homolog (Drosophila)							9.0	11.0	10.0					6																	107955419		1786	3974	5760	SO:0001819	synonymous_variant	55084	0	0					g.chr6:107955419G>A	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.1371G>A	chr6.hg19:g.107955419G>A		0						p.S457S	NM_018013.3	NP_060483.3	0	0	0	1.973144				6	2030	+		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)		Silent	SNP	ENST00000317357.5	1	1	hg19	c.1371G>A	CCDS43488.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.751	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_018013			34	33		136	132	0		1	0		0	0	26	0		1	3.530712e-01	0	0	0	6	0	34	136
SOBP	55084	broad.mit.edu	37	6	107955830	107955830	+	Silent	SNP	C	C	T	rs375402260		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											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)		CGTCCAAGTCCGCGGACTCGC	0.756																																						ENST00000317357.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				26						c.(1780-1782)tcC>tcT		sine oculis binding protein homolog (Drosophila)		A		0,3492		0,0,1746	6.0	7.0	6.0		1782	-0.5	1.0	6		6	1,7817		0,1,3908	no	coding-synonymous	SOBP	NM_018013.3		0,1,5654	TT,TC,CC		0.0128,0.0,0.0088		594/874	107955830	1,11309	1746	3909	5655	SO:0001819	synonymous_variant	55084	2	116374	26				g.chr6:107955830C>T	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.1782C>T	chr6.hg19:g.107955830C>T		0						p.S594S	NM_018013.3	NP_060483.3	0	0	0	1.973144				6	2441	+		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)		Silent	SNP	ENST00000317357.5	1	1	hg19	c.1782C>T	CCDS43488.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	NM_018013			23	23		70	67	0		1	0		0	0	14	0		9.999997e-01	0	0	0	0	1	0	23	70
SOBP	55084	broad.mit.edu	37	6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											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)		CGGTCAAGGAGAATAACTGTG	0.687																																						ENST00000317357.5	0.750000	0.270000	6.200000e-01	3.600000e-01	0.480000	0.497679	0.480000	0.470000																										0				26						c.(2317-2319)gaG>gaT		sine oculis binding protein homolog (Drosophila)							33.0	40.0	38.0					6																	107956367		1944	4143	6087	SO:0001583	missense	55084	0	0					g.chr6:107956367G>T	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.2319G>T	chr6.hg19:g.107956367G>T	ENSP00000318900:p.Glu773Asp	0					SOBP_ENST00000494935.1_3'UTR	p.E773D	NM_018013.3	NP_060483.3	0	0	0	1.973144				6	2978	+		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)		Missense_Mutation	SNP	ENST00000317357.5	1	1	hg19	c.2319G>T	CCDS43488.1	0	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136500	0.77662	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.52983	0.64	4.15	4.15	0.48705	4.15	4.15	0.48705	.	0.994812	0.08127	N	0.993747	T	0.46560	0.1399	L	0.29908	0.895	0.47698	D	0.99949	D	0.67145	0.996	D	0.76071	0.987	T	0.41395	-0.9511	10	0.87932	D	0	-7.7535	10.1851	0.42993	0.093:0.0:0.907:0.0	.	773	A7XYQ1	SOBP_HUMAN	D	773;168	ENSP00000318900:E773D	ENSP00000230065:E168D	E	+	3	2	2	SOBP	108063060	108063060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	1.836000	0.53414	0.462000	0.41574	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-14.970350	1	0.170000	NM_018013			14	14		329	320	0		1	0		0	0	47	0		9.997211e-01	6.943042e-02	0	0	0	10	0	14	329
SOBP	55084	broad.mit.edu	37	6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											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)		GCGGATGCTGCCCAAGACCGG	0.647																																						ENST00000317357.5	0.420000	0.160000	3.500000e-01	2.100000e-01	0.270000	0.287307	0.270000	0.270000																										0				26						c.(2464-2466)Ccc>Tcc		sine oculis binding protein homolog (Drosophila)							61.0	75.0	71.0					6																	107956512		2128	4242	6370	SO:0001583	missense	55084	0	0					g.chr6:107956512C>T	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.2464C>T	chr6.hg19:g.107956512C>T	ENSP00000318900:p.Pro822Ser	0					SOBP_ENST00000494935.1_3'UTR	p.P822S	NM_018013.3	NP_060483.3	0	0	0	1.973144				6	3123	+		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)		Missense_Mutation	SNP	ENST00000317357.5	1	1	hg19	c.2464C>T	CCDS43488.1	0	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395447	0.62066	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.47869	0.83	4.54	4.54	0.55810	4.54	4.54	0.55810	.	2.024820	0.03193	U	0.173606	T	0.22085	0.0532	N	0.11560	0.145	0.43787	D	0.996326	P	0.47034	0.889	P	0.47402	0.546	T	0.48364	-0.9042	10	0.02654	T	1	-2.1772	17.2698	0.87098	0.0:1.0:0.0:0.0	.	822	A7XYQ1	SOBP_HUMAN	S	822;217	ENSP00000318900:P822S	ENSP00000230065:P217S	P	+	1	0	0	SOBP	108063205	108063205	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.585000	0.53943	2.052000	0.61016	0.462000	0.41574	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	0	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-3.163735	1	0.170000	NM_018013			17	16		704	695	0		1	0		0	0	144	0		9.999600e-01	3.767279e-03	0	0	0	4	0	17	704
SEC63	11231	broad.mit.edu	37	6	108227665	108227665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	316	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388																																						ENST00000369002.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(946-948)gaG>gaA		SEC63 homolog (S. cerevisiae)							109.0	115.0	113.0					6																	108227665		2203	4300	6503	SO:0001819	synonymous_variant	11231	0	0					g.chr6:108227665C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.948G>A	chr6.hg19:g.108227665C>T		0						p.E316E	NM_007214.4	NP_009145.1	0	0	0	1.973144	Q9UGP8	SEC63_HUMAN		10	1127	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	ENST00000369002.4	1	1	hg19	c.948G>A	CCDS5061.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_007214			95	95		477	468	1		1	1		0	0	113	0		1	1	0	50	0	207	0	95	477
NR2E1	7101	broad.mit.edu	37	6	108496126	108496126	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	86					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458																																						ENST00000368986.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(256-258)gaC>gaT		nuclear receptor subfamily 2, group E, member 1							131.0	113.0	119.0					6																	108496126		2203	4300	6503	SO:0001630	splice_region_variant	7101	0	0					g.chr6:108496126C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.259+1C>T	chr6.hg19:g.108496126C>T		0					NR2E1_ENST00000368983.3_Splice_Site_p.D123D	p.D86D	NM_003269.3	NP_003260.1	0	0	0	1.973144	Q9Y466	NR2E1_HUMAN		3	966	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	Q6ZMP8	Splice_Site	SNP	ENST00000368986.4	1	0	hg19	c.258C>T	CCDS5063.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000		Silent		43	42		210	209	1		1			0	0	42	0		1	0	0	0	0	0	0	43	210
NR2E1	7101	broad.mit.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498																																						ENST00000368986.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(523-525)atG>atA		nuclear receptor subfamily 2, group E, member 1							109.0	101.0	104.0					6																	108499328		2203	4300	6503	SO:0001583	missense	7101	0	0					g.chr6:108499328G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.525G>A	chr6.hg19:g.108499328G>A	ENSP00000357982:p.Met175Ile	0					NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	p.M175I	NM_003269.3	NP_003260.1	0	0	0	1.973144	Q9Y466	NR2E1_HUMAN		5	1233	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	1	1	hg19	c.525G>A	CCDS5063.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	0	NR2E1	108606021	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000				59	58		299	293	1		1			0	0	93	0		1	0	0	0	0	0	0	59	299
SNX3	8724	broad.mit.edu	37	6	108535813	108535813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108535813G>A	ENST00000230085.8	-	3	610	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SNX3_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	91	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)			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)		CCCAGGGAGCGGGGGAACTAC	0.423																																						ENST00000230085.8	0.730000	0.160000	5.600000e-01	2.600000e-01	0.390000	0.416253	0.390000	0.360000																										0				1						c.(271-273)cCg>cTg		sorting nexin 3							52.0	50.0	51.0					6																	108535813		2203	4300	6503	SO:0001583	missense	8724	0	0					g.chr6:108535813G>A	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.272C>T	chr6.hg19:g.108535813G>A	ENSP00000230085:p.Pro91Leu	0					SNX3_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	p.P91L	NM_003795.4	NP_003786.1	0	0	0	1.973144	O60493	SNX3_HUMAN		3	610	-		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)	A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	0	1	hg19	c.272C>T	CCDS5064.1	0	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320049	0.60634	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.44083	0.93;0.93;0.93	5.16	5.16	0.70880	5.16	5.16	0.70880	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.88450	2.955	0.80722	D	1	B;B	0.25486	0.101;0.127	B;B	0.32090	0.03;0.14	T	0.54846	-0.8232	10	0.87932	D	0	-15.6734	15.3802	0.74648	0.0:0.0:0.8601:0.1399	.	59;91	O60493-2;O60493	.;SNX3_HUMAN	L	91;59;69	ENSP00000230085:P91L;ENSP00000401779:P59L;ENSP00000296991:P69L	ENSP00000230085:P91L	P	-	2	0	0	SNX3	108642506	108642506	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.883000	0.87264	2.562000	0.86427	0.462000	0.41574	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1	0	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-2.922597	1	0.170000				6	6		182	179	0		1	1		0	0	44	0		9.639582e-01	9.999614e-01	0	41	0	817	0	6	182
LACE1	246269	broad.mit.edu	37	6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T	rs548447273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	55						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			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)		ACATCCGAGAGCATGACCCCA	0.393																																						ENST00000368977.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(163-165)aGc>aTc		lactation elevated 1							97.0	91.0	93.0					6																	108645053		2203	4300	6503	SO:0001583	missense	246269	0	0					g.chr6:108645053G>T	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.164G>T	chr6.hg19:g.108645053G>T	ENSP00000357973:p.Ser55Ile	0						p.S55I	NM_145315.3	NP_660358.2	0	0	0	1.973144	Q8WV93	LACE1_HUMAN		2	350	+		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)	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	1	1	hg19	c.164G>T	CCDS5067.1	1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024493	0.19433	.	.	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.44	-2.02	0.07388	5.44	-2.02	0.07388	.	1.142340	0.06187	N	0.680538	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.35671	T	0.21	0.0101	2.4287	0.04466	0.4639:0.2219:0.2013:0.1129	.	55	Q8WV93	LACE1_HUMAN	I	55;22	.	ENSP00000357973:S55I	S	+	2	0	0	LACE1	108751746	108751746	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.056000	0.11787	-0.868000	0.04058	-0.275000	0.10095	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	0	0	1		12	2	2	1		1	1	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_145315			79	80		338	329	1		1	1		1	0	131	0		1	7.723504e-01	0	5	0	9	0	79	338
GCM2	9247	broad.mit.edu	37	6	10874435	10874435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	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)	438					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)			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)				GAGAGGCTGCCCTGGTGACTG	0.557																																						ENST00000379491.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1312-1314)agG>agA		glial cells missing homolog 2 (Drosophila)							44.0	44.0	44.0					6																	10874435		2203	4300	6503	SO:0001819	synonymous_variant	9247	0	0					g.chr6:10874435C>T	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.1314G>A	chr6.hg19:g.10874435C>T		0					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R438R	NM_004752.3	NP_004743.1	0	0	0	1.967613	O75603	GCM2_HUMAN		5	1461	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	1	1	hg19	c.1314G>A	CCDS4517.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				52	50		191	185	1		1			0	0	50	0		1	0	0	0	0	0	0	52	191
GCM2	9247	broad.mit.edu	37	6	10874603	10874603	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	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)	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability). {ECO:0000269|PubMed:21642377}.		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)			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)				TGGTGGTGATCACGGTTTGTA	0.557																																						ENST00000379491.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1144-1146)gtG>gtT		glial cells missing homolog 2 (Drosophila)							169.0	163.0	165.0					6																	10874603		2203	4300	6503	SO:0001819	synonymous_variant	9247	0	0					g.chr6:10874603C>A	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.1146G>T	chr6.hg19:g.10874603C>A		0					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.V382V	NM_004752.3	NP_004743.1	0	0	0	1.967613	O75603	GCM2_HUMAN		5	1293	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	1	1	hg19	c.1146G>T	CCDS4517.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1		2	2	2	0		0	0	153		153	151	1	2.060000	-20.000000	1	0.170000				128	125		627	612	1		1			0	0	153	0		1	0	0	0	0	0	0	128	627
GCM2	9247	broad.mit.edu	37	6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	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)	88					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)			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)				GCAGGCCTGTGTACACACCAC	0.632																																						ENST00000379491.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(262-264)aCa>aTa		glial cells missing homolog 2 (Drosophila)							94.0	78.0	84.0					6																	10877453		2203	4300	6503	SO:0001583	missense	9247	0	0					g.chr6:10877453G>A	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.263C>T	chr6.hg19:g.10877453G>A	ENSP00000368805:p.Thr88Ile	0					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.T88I	NM_004752.3	NP_004743.1	0	0	0	1.967613	O75603	GCM2_HUMAN		2	410	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	1	1	hg19	c.263C>T	CCDS4517.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362783	0.41902	.	.	ENSG00000124827	ENST00000379491	T	0.74526	-0.85	5.69	3.91	0.45181	5.69	3.91	0.45181	.	0.421727	0.30732	N	0.009000	T	0.40272	0.1110	N	0.19112	0.55	0.46678	D	0.999157	B	0.18013	0.025	B	0.18871	0.023	T	0.41161	-0.9524	10	0.59425	D	0.04	-0.6723	6.5058	0.22194	0.0688:0.1309:0.6643:0.136	.	88	O75603	GCM2_HUMAN	I	88	ENSP00000368805:T88I	ENSP00000368805:T88I	T	-	2	0	0	GCM2	10985439	10985439	0.714000	0.27936	0.033000	0.17914	0.873000	0.50193	4.669000	0.61575	0.754000	0.32968	0.650000	0.86243	ACA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	0		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000				83	79		348	340	1		1			0	0	72	0		1	0	0	0	0	0	0	83	348
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T	rs200953294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	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)	67					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18389	0.001		0.0	False		,,,				2504	0.0					ENST00000379491.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										1	Substitution - Missense(1)	p.R67H(1)	large_intestine(1)	30						c.(199-201)cGc>cAc		glial cells missing homolog 2 (Drosophila)							97.0	77.0	84.0					6																	10877516		2203	4300	6503	SO:0001583	missense	9247	0	0					g.chr6:10877516C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.200G>A	chr6.hg19:g.10877516C>T	ENSP00000368805:p.Arg67His	0					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R67H	NM_004752.3	NP_004743.1	0	0	0	1.967613	O75603	GCM2_HUMAN		2	347	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	1	1	hg19	c.200G>A	CCDS4517.1	1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	0	GCM2	10985502	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-19.999940	1	0.170000				52	52		306	305	1		1			0	0	61	0		1	0	0	0	0	0	0	52	306
LACE1	246269	broad.mit.edu	37	6	108687502	108687502	+	Silent	SNP	C	C	T	rs370599565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	238						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			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)		AAAACGGGGTCGTCGTTGTGG	0.373																																						ENST00000368977.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996485	0.990000	1.000000																										0				15						c.(712-714)gtC>gtT		lactation elevated 1		C		0,4406		0,0,2203	62.0	59.0	60.0		714	5.8	1.0	6		60	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	LACE1	NM_145315.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/482	108687502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	246269	2	121408	38				g.chr6:108687502C>T	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.714C>T	chr6.hg19:g.108687502C>T		0						p.V238V	NM_145315.3	NP_660358.2	0	0	0	1.973144	Q8WV93	LACE1_HUMAN		6	900	+		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)	Q8N6A3	Silent	SNP	ENST00000368977.4	1	1	hg19	c.714C>T	CCDS5067.1	1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090020	0.20390	0.0	2.33E-4	ENSG00000135537	ENST00000421954	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50931	-0.8769	4	.	.	.	-10.1505	7.6285	0.28226	0.0:0.8056:0.0:0.1944	.	.	.	.	L	106	.	.	S	+	2	0	0	LACE1	108794195	108794195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.755000	0.94549	0.655000	0.94253	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.030711	1	0.170000	NM_145315			18	17		116	115	1		1	0		0	0	34	0		9.999866e-01	4.138486e-01	0	1	0	9	0	18	116
LACE1	246269	broad.mit.edu	37	6	108840900	108840900	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	402						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			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)		TCTATTTCAGGTGCGTATAAT	0.348																																						ENST00000368977.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1204-1206)Gtg>Atg		lactation elevated 1							135.0	129.0	131.0					6																	108840900		2203	4300	6503	SO:0001630	splice_region_variant	246269	0	0					g.chr6:108840900G>A	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.1204-1G>A	chr6.hg19:g.108840900G>A		0						p.V402M	NM_145315.3	NP_660358.2	0	0	0	1.973144	Q8WV93	LACE1_HUMAN		12	1390	+		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)	Q8N6A3	Splice_Site	SNP	ENST00000368977.4	1	0	hg19	c.1204G>A	CCDS5067.1	1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605248	0.66445	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91638	0.5324	8	.	.	.	-14.8229	19.6956	0.96023	0.0:0.0:1.0:0.0	.	402	Q8WV93	LACE1_HUMAN	M	402	.	.	V	+	1	0	0	LACE1	108947593	108947593	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	6.440000	0.73435	2.757000	0.94681	0.561000	0.74099	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_145315	Missense_Mutation		58	58		303	296	1		1	0		0	0	72	0		1	4.987365e-01	0	0	0	10	0	58	303
FOXO3	2309	broad.mit.edu	37	6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000343882.6	+	3	930	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F|FOXO3_ENST00000540898.1_5'UTR	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	209					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468																																						ENST00000343882.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(625-627)tCc>tTc		forkhead box O3							50.0	52.0	51.0					6																	108984662		2197	4288	6485	SO:0001583	missense	2309	0	0					g.chr6:108984662C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.626C>T	chr6.hg19:g.108984662C>T	ENSP00000339527:p.Ser209Phe	0					FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F|FOXO3_ENST00000540898.1_5'UTR	p.S209F	NM_201559.2	NP_963853.1	0	0	0	1.973144	O43524	FOXO3_HUMAN		3	930	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	1	1	hg19	c.626C>T	CCDS5068.1	1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615266	0.66672	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	10	0.87932	D	0	-14.0329	20.1236	0.97970	0.0:1.0:0.0:0.0	.	209	O43524	FOXO3_HUMAN	F	209	ENSP00000339527:S209F;ENSP00000385824:S209F	ENSP00000339527:S209F	S	+	2	0	0	FOXO3	109091355	109091355	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.487000	0.81328	2.765000	0.95021	0.555000	0.69702	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1		2	2	2	0		0	0	81		81	83	1	2.060000	-20.000000	1	0.170000				64	63		317	306	1		1	1		0	0	81	0		1	9.999966e-01	0	11	0	82	0	64	317
FOXO3	2309	broad.mit.edu	37	6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000343882.6	+	3	1196	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632																																						ENST00000343882.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				26						c.(892-894)Cgc>Tgc		forkhead box O3							23.0	25.0	24.0					6																	108984928		2201	4298	6499	SO:0001583	missense	2309	0	0					g.chr6:108984928C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.892C>T	chr6.hg19:g.108984928C>T	ENSP00000339527:p.Arg298Cys	0					FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C	p.R298C	NM_201559.2	NP_963853.1	0	0	0	1.973144	O43524	FOXO3_HUMAN		3	1196	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	1	1	hg19	c.892C>T	CCDS5068.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584054	0.46110	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91295	-2.82;-2.82	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.045497	0.85682	D	0.000000	D	0.94384	0.8194	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.93633	0.6958	10	0.54805	T	0.06	-15.3772	20.1432	0.98067	0.0:1.0:0.0:0.0	.	298	O43524	FOXO3_HUMAN	C	298;298;78;78	ENSP00000339527:R298C;ENSP00000385824:R298C	ENSP00000339527:R298C	R	+	1	0	0	FOXO3	109091621	109091621	1.000000	0.71417	0.967000	0.41034	0.036000	0.12997	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				28	25		122	114	1		1	1		0	0	26	0		1	9.999992e-01	0	18	0	88	0	28	122
FOXO3	2309	broad.mit.edu	37	6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000343882.6	+	3	1571	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M|FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	423					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602																																						ENST00000343882.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1267-1269)Ctg>Atg		forkhead box O3							67.0	72.0	70.0					6																	108985303		2203	4300	6503	SO:0001583	missense	2309	0	0					g.chr6:108985303C>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1267C>A	chr6.hg19:g.108985303C>A	ENSP00000339527:p.Leu423Met	0					FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M|FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M	p.L423M	NM_201559.2	NP_963853.1	0	0	0	1.973144	O43524	FOXO3_HUMAN		3	1571	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	1	1	hg19	c.1267C>A	CCDS5068.1	1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068588	0.20067	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96967	-4.19;-4.19;-4.19	5.81	3.11	0.35812	5.81	3.11	0.35812	.	0.613858	0.16574	N	0.208517	D	0.88665	0.6498	L	0.53249	1.67	0.43394	D	0.995517	P	0.45283	0.855	B	0.35859	0.212	D	0.84560	0.0649	10	0.45353	T	0.12	-2.6743	6.1388	0.20249	0.1303:0.6724:0.0:0.1973	.	423	O43524	FOXO3_HUMAN	M	423;423;203;203	ENSP00000339527:L423M;ENSP00000385824:L423M;ENSP00000446316:L203M	ENSP00000339527:L423M	L	+	1	2	2	FOXO3	109091996	109091996	1.000000	0.71417	0.839000	0.33178	0.823000	0.46562	3.218000	0.51192	0.388000	0.25054	0.462000	0.41574	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1		2	2	2	0		0	0	144		144	140	1	2.060000	-20.000000	1	0.170000				85	81		478	470	1		1	1		0	0	144	0		1	1	0	44	0	168	0	85	478
ARMC2	84071	broad.mit.edu	37	6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A	rs373656754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	278										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)		CCGATTTTGCGTGAATTAGAA	0.353																																						ENST00000392644.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999802	0.990000	1.000000																										0				24						c.(832-834)cGt>cAt		armadillo repeat containing 2		G	HIS/ARG	0,4406		0,0,2203	52.0	54.0	53.0		833	-2.4	0.9	6		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARMC2	NM_032131.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	278/868	109220981	2,13004	2203	4300	6503	SO:0001583	missense	84071	15	121406	41				g.chr6:109220981G>A	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.833G>A	chr6.hg19:g.109220981G>A	ENSP00000376417:p.Arg278His	0					ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	p.R278H	NM_032131.4	NP_115507.4	0	0	0	1.973144	Q8NEN0	ARMC2_HUMAN		7	1001	+		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)	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	1	1	hg19	c.833G>A	CCDS5069.2	1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710046	0.00712	0.0	2.33E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39406	1.08;1.08	5.65	-2.41	0.06562	5.65	-2.41	0.06562	Armadillo-like helical (1);	0.500152	0.23742	N	0.045015	T	0.02571	0.0078	N	0.00483	-1.445	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.02654	T	1	.	12.4735	0.55799	0.5786:0.0:0.4214:0.0	.	278	Q8NEN0	ARMC2_HUMAN	H	113;278	ENSP00000357968:R113H;ENSP00000376417:R278H	ENSP00000357968:R113H	R	+	2	0	0	ARMC2	109327674	109327674	0.354000	0.24912	0.893000	0.35052	0.026000	0.11368	0.082000	0.14847	-0.289000	0.09038	-0.897000	0.02905	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.245082	1	0.170000	NM_032131			21	19		100	100	1		1	0		0	0	30	0		9.999985e-01	2.937844e-01	0	1	0	5	0	21	100
ARMC2	84071	broad.mit.edu	37	6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	340										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)		AAAAATAATTCTAGCAGTAAG	0.313																																						ENST00000392644.4	1.000000	0.710000	1	8.700000e-01	0.990000	0.953787	0.990000	1.000000																										0				24						c.(1018-1020)Cta>Ata		armadillo repeat containing 2							115.0	113.0	113.0					6																	109225603		2203	4300	6503	SO:0001583	missense	84071	0	0					g.chr6:109225603C>A	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.1018C>A	chr6.hg19:g.109225603C>A	ENSP00000376417:p.Leu340Ile	0					ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	p.L340I	NM_032131.4	NP_115507.4	0	0	0	1.973144	Q8NEN0	ARMC2_HUMAN		8	1186	+		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)	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	1	1	hg19	c.1018C>A	CCDS5069.2	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691509	0.88735	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.59224	0.28;0.32	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.83012	2.62	0.54753	D	0.999985	D	0.76494	0.999	D	0.80764	0.994	T	0.78224	-0.2287	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	340	Q8NEN0	ARMC2_HUMAN	I	175;340	ENSP00000357968:L175I;ENSP00000376417:L340I	ENSP00000357968:L175I	L	+	1	2	2	ARMC2	109332296	109332296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	CTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.017764	1	0.170000	NM_032131			26	26		260	257	0		1	0		0	0	67	0		9.999999e-01	0	0	0	0	1	0	26	260
SYCP2L	221711	broad.mit.edu	37	6	10927525	10927525	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	455						nucleus (GO:0005634)				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)			CTGAAGATGACCGCTGCCTAA	0.413																																						ENST00000283141.6	0.820000	0.320000	6.900000e-01	4.200000e-01	0.540000	0.561795	0.540000	0.530000																										0				36						c.(1363-1365)gaC>gaT		synaptonemal complex protein 2-like							132.0	128.0	129.0					6																	10927525		1967	4165	6132	SO:0001819	synonymous_variant	221711	0	0					g.chr6:10927525C>T	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.1365C>T	chr6.hg19:g.10927525C>T		0					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.D455D	NM_001040274.2	NP_001035364.2	0	0	0	1.967613	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)	17	1661	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	1	1	hg19	c.1365C>T	CCDS43423.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-4.564546	1	0.170000	NM_194299			16	15		327	323	0		1	0		0	0	65	0		9.999302e-01	0	0	0	0	1	0	16	327
ARMC2	84071	broad.mit.edu	37	6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553										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)		TAACCAGGCTCGTGAACAATT	0.463																																						ENST00000392644.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				24						c.(1657-1659)Cgt>Tgt		armadillo repeat containing 2							49.0	44.0	46.0					6																	109274296		2203	4300	6503	SO:0001583	missense	84071	1	121404	36				g.chr6:109274296C>T	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.1657C>T	chr6.hg19:g.109274296C>T	ENSP00000376417:p.Arg553Cys	0					ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	p.R553C	NM_032131.4	NP_115507.4	0	0	0	1.973144	Q8NEN0	ARMC2_HUMAN		13	1825	+		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)	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	1	1	hg19	c.1657C>T	CCDS5069.2	1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801871	0.70682	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.50813	0.73;0.73	5.81	5.81	0.92471	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67933	-0.5542	10	0.72032	D	0.01	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	553	Q8NEN0	ARMC2_HUMAN	C	388;553	ENSP00000357968:R388C;ENSP00000376417:R553C	ENSP00000357968:R388C	R	+	1	0	0	ARMC2	109380989	109380989	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	5.047000	0.64232	2.756000	0.94617	0.655000	0.94253	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-16.700040	1	0.170000	NM_032131			25	25		106	103	1		1	0		0	0	24	0		9.999999e-01	1.762059e-01	0	0	0	4	0	25	106
ARMC2	84071	broad.mit.edu	37	6	109283323	109283323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000368972.3_Silent_p.Q550Q|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	715										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)		TCATTGTGCAGAACAATGGTG	0.398																																						ENST00000392644.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999663	0.990000	1.000000																										0				24						c.(2143-2145)caG>caA		armadillo repeat containing 2							73.0	63.0	66.0					6																	109283323		2203	4300	6503	SO:0001819	synonymous_variant	84071	0	0					g.chr6:109283323G>A	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.2145G>A	chr6.hg19:g.109283323G>A		0					ARMC2_ENST00000368972.3_Silent_p.Q550Q|ARMC2_ENST00000481850.1_3'UTR	p.Q715Q	NM_032131.4	NP_115507.4	0	0	0	1.973144	Q8NEN0	ARMC2_HUMAN		15	2313	+		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)	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	1	1	hg19	c.2145G>A	CCDS5069.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_032131			16	16		65	65	1		1	1		0	0	18	0		9.999648e-01	4.388985e-02	0	2	0	0	0	16	65
MICAL1	64780	broad.mit.edu	37	6	109765460	109765460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000358807.3	-	25	3449	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A	MICAL1_ENST00000368952.4_Silent_p.A1065A|MICAL1_ENST00000358577.3_Silent_p.A960A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1046					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587																																						ENST00000358807.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				40						c.(3136-3138)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 1							39.0	40.0	40.0					6																	109765460		2203	4300	6503	SO:0001819	synonymous_variant	64780	0	0					g.chr6:109765460G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3138C>T	chr6.hg19:g.109765460G>A		0					MICAL1_ENST00000368952.4_Silent_p.A1065A|MICAL1_ENST00000358577.3_Silent_p.A960A	p.A1046A	NM_022765.3	NP_073602.3	0	0	0	1.973144	Q8TDZ2	MICA1_HUMAN		25	3449	-		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)	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	1	1	hg19	c.3138C>T	CCDS5076.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_022765			41	40		224	219	1		1	1		0	0	42	0		1	9.999996e-01	0	30	0	97	0	41	224
MICAL1	64780	broad.mit.edu	37	6	109768325	109768325	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000358807.3	-	17	2489	c.2178C>A	c.(2176-2178)acC>acA	p.T726T	MICAL1_ENST00000368952.4_Silent_p.T745T|MICAL1_ENST00000358577.3_Silent_p.T640T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	726	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617																																						ENST00000358807.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999782	0.990000	1.000000																										0				40						c.(2176-2178)acC>acA		microtubule associated monooxygenase, calponin and LIM domain containing 1							73.0	77.0	75.0					6																	109768325		2203	4300	6503	SO:0001819	synonymous_variant	64780	0	0					g.chr6:109768325G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2178C>A	chr6.hg19:g.109768325G>T		0					MICAL1_ENST00000368952.4_Silent_p.T745T|MICAL1_ENST00000358577.3_Silent_p.T640T	p.T726T	NM_022765.3	NP_073602.3	0	0	0	1.973144	Q8TDZ2	MICA1_HUMAN		17	2489	-		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)	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	1	1	hg19	c.2178C>A	CCDS5076.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	0		2	2	2	0		0	0	91		91	89	1	2.060000	-2.966620	1	0.170000	NM_022765			52	52		369	362	1		1	1		0	0	91	0		1	9.993353e-01	0	17	0	62	0	52	369
MICAL1	64780	broad.mit.edu	37	6	109768373	109768373	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000358807.3	-	17	2441	c.2130C>A	c.(2128-2130)ctC>ctA	p.L710L	MICAL1_ENST00000368952.4_Silent_p.L729L|MICAL1_ENST00000358577.3_Silent_p.L624L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	710	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627																																						ENST00000358807.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2128-2130)ctC>ctA		microtubule associated monooxygenase, calponin and LIM domain containing 1							122.0	122.0	122.0					6																	109768373		2203	4300	6503	SO:0001819	synonymous_variant	64780	0	0					g.chr6:109768373G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2130C>A	chr6.hg19:g.109768373G>T		0					MICAL1_ENST00000368952.4_Silent_p.L729L|MICAL1_ENST00000358577.3_Silent_p.L624L	p.L710L	NM_022765.3	NP_073602.3	0	0	0	1.973144	Q8TDZ2	MICA1_HUMAN		17	2441	-		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)	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	1	1	hg19	c.2130C>A	CCDS5076.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	0		2	2	2	0		0	0	138		138	136	1	2.060000	-2.879492	1	0.170000	NM_022765			81	81		502	496	1		1	1		0	0	138	0		1	9.999999e-01	0	36	0	111	0	81	502
MICAL1	64780	broad.mit.edu	37	6	109768629	109768629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000358807.3	-	16	2312	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	MICAL1_ENST00000368952.4_Silent_p.T686T|MICAL1_ENST00000358577.3_Silent_p.T581T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	667					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617																																						ENST00000358807.3	1.000000	0.480000	9.900000e-01	6.200000e-01	0.790000	0.797889	0.790000	1.000000																										0				40						c.(1999-2001)acC>acT		microtubule associated monooxygenase, calponin and LIM domain containing 1							69.0	67.0	68.0					6																	109768629		2203	4300	6503	SO:0001819	synonymous_variant	64780	0	0					g.chr6:109768629G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2001C>T	chr6.hg19:g.109768629G>A		0					MICAL1_ENST00000368952.4_Silent_p.T686T|MICAL1_ENST00000358577.3_Silent_p.T581T	p.T667T	NM_022765.3	NP_073602.3	0	0	0	1.973144	Q8TDZ2	MICA1_HUMAN		16	2312	-		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)	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	1	1	hg19	c.2001C>T	CCDS5076.1	0	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129682	0.06753	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.59	-2.28	0.06826	5.59	-2.28	0.06826	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	.	5.426	0.16425	0.5946:0.0:0.2594:0.1461	.	.	.	.	S	229	.	.	P	-	1	0	0	MICAL1	109875322	109875322	0.001000	0.12720	0.004000	0.12327	0.604000	0.37047	-0.429000	0.06982	-0.253000	0.09514	-0.169000	0.13324	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.952040	1	0.170000	NM_022765			17	16		232	227	1		1	1		0	0	37	0		9.999633e-01	9.934356e-01	0	19	0	94	0	17	232
MICAL1	64780	broad.mit.edu	37	6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000358807.3	-	2	375	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M|MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	22	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652																																						ENST00000358807.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(64-66)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 1							27.0	26.0	26.0					6																	109775336		2203	4300	6503	SO:0001583	missense	64780	0	0					g.chr6:109775336G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.64C>A	chr6.hg19:g.109775336G>T	ENSP00000351664:p.Leu22Met	0					MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M	p.L22M	NM_022765.3	NP_073602.3	0	0	0	1.973144	Q8TDZ2	MICA1_HUMAN		2	375	-		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)	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	1	1	hg19	c.64C>A	CCDS5076.1	1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648733	0.67358	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;3.28;1.96;1.96	5.17	3.38	0.38709	5.17	3.38	0.38709	.	1.141450	0.06566	N	0.747538	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	D;P;P	0.53619	0.961;0.672;0.543	P;B;B	0.46110	0.504;0.408;0.231	T	0.27606	-1.0069	10	0.72032	D	0.01	.	6.0299	0.19675	0.0871:0.0:0.5772:0.3358	.	41;22;22	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	22;41;22;22	ENSP00000351664:L22M;ENSP00000357948:L41M;ENSP00000351385:L22M;ENSP00000407075:L22M	ENSP00000351385:L22M	L	-	1	2	2	MICAL1	109882029	109882029	0.822000	0.29219	0.996000	0.52242	0.996000	0.88848	1.562000	0.36353	0.741000	0.32674	0.561000	0.74099	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_022765			36	35		126	126	1		1	1		0	0	31	0		1	9.999798e-01	0	20	0	43	0	36	126
FIG4	9896	broad.mit.edu	37	6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	688					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348																																						ENST00000230124.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2062-2064)gAt>gCt		FIG4 phosphoinositide 5-phosphatase							178.0	171.0	174.0					6																	110107619		2203	4300	6503	SO:0001583	missense	9896	0	0					g.chr6:110107619A>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2063A>C	chr6.hg19:g.110107619A>C	ENSP00000230124:p.Asp688Ala	0					FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	p.D688A	NM_014845.5	NP_055660.1	0	0	0	1.973144	Q92562	FIG4_HUMAN		18	2187	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	1	1	hg19	c.2063A>C	CCDS5078.1	1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033096	0.54896	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.92;0.67	5.5	4.35	0.52113	5.5	4.35	0.52113	.	0.271299	0.40640	N	0.001053	T	0.22322	0.0538	L	0.34521	1.04	0.53005	D	0.999962	B;B	0.33103	0.137;0.397	B;B	0.32465	0.092;0.146	T	0.11767	-1.0574	10	0.72032	D	0.01	-27.3375	11.3806	0.49754	0.9291:0.0:0.0709:0.0	.	411;688	F5H8L9;Q92562	.;FIG4_HUMAN	A	411;688	ENSP00000399443:D411A;ENSP00000230124:D688A	ENSP00000230124:D688A	D	+	2	0	0	FIG4	110214312	110214312	1.000000	0.71417	0.885000	0.34714	0.938000	0.57974	6.801000	0.75170	1.040000	0.40099	0.528000	0.53228	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_014845			90	87		477	472	1		1	1		0	0	130	0		1	9.991444e-01	0	16	0	41	0	90	477
GPR6	2830	broad.mit.edu	37	6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A	rs374392328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000275169.3	+	1	587	c.569C>A	c.(568-570)gCc>gAc	p.A190D	GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	190					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			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)		CTCCTGCTTGCCGCCACTTGG	0.687																																						ENST00000275169.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(568-570)gCc>gAc		G protein-coupled receptor 6							25.0	27.0	26.0					6																	110300884		2203	4300	6503	SO:0001583	missense	2830	0	0					g.chr6:110300884C>A		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.569C>A	chr6.hg19:g.110300884C>A	ENSP00000275169:p.Ala190Asp	0					GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	p.A190D	NM_005284.3	NP_005275.1	0	0	0	1.973144	P46095	GPR6_HUMAN		1	587	+		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)	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	1	1	hg19	c.569C>A	CCDS5079.1	1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964004	0.53507	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.42513	0.97;0.97	4.83	4.83	0.62350	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.273274	0.31772	N	0.007085	T	0.51449	0.1675	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.64830	0.993;0.994	P;D	0.63597	0.889;0.916	T	0.51568	-0.8689	10	0.72032	D	0.01	.	8.2855	0.31926	0.0:0.7829:0.0:0.2171	.	205;190	B4DHS9;P46095	.;GPR6_HUMAN	D	190;205;190	ENSP00000406986:A205D;ENSP00000275169:A190D	ENSP00000275169:A190D	A	+	2	0	0	GPR6	110407577	110407577	0.965000	0.33210	0.411000	0.26484	0.955000	0.61496	3.201000	0.51059	2.504000	0.84457	0.563000	0.77884	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000				47	46		207	204	0		1			0	0	38	0		1	0	0	0	0	0	0	47	207
WASF1	8936	broad.mit.edu	37	6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	403					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACTGGGGCAGCTCTAGCTACT	0.592																																						ENST00000392589.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1207-1209)Gct>Act		WAS protein family, member 1							95.0	93.0	93.0					6																	110423106		2203	4300	6503	SO:0001583	missense	8936	0	0					g.chr6:110423106C>T	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.1207G>A	chr6.hg19:g.110423106C>T	ENSP00000376368:p.Ala403Thr	0					WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T	p.A403T	NM_003931.2	NP_003922.1	0	0	0	1.973144	Q92558	WASF1_HUMAN		10	2043	-		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)	E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	1	1	hg19	c.1207G>A	CCDS5080.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830312	0.50845	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.643630	0.16262	N	0.222188	T	0.15869	0.0382	N	0.08118	0	0.41624	D	0.988985	B	0.06786	0.001	B	0.06405	0.002	T	0.13176	-1.0519	10	0.11485	T	0.65	.	19.5397	0.95270	0.0:1.0:0.0:0.0	.	403	Q92558	WASF1_HUMAN	T	403	ENSP00000376365:A403T;ENSP00000376366:A403T;ENSP00000376368:A403T;ENSP00000376367:A403T;ENSP00000352425:A403T	ENSP00000352425:A403T	A	-	1	0	0	WASF1	110529799	110529799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.623000	0.88846	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_003931			58	58		240	229	1		1	1		0	0	52	0		1	9.895373e-01	0	2	0	30	0	58	240
DDO	8528	broad.mit.edu	37	6	110729641	110729641	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	59					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393																																						ENST00000368924.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(259-261)acA>acG		D-aspartate oxidase							104.0	97.0	99.0					6																	110729641		2203	4300	6503	SO:0001819	synonymous_variant	8528	0	0					g.chr6:110729641T>C	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.261A>G	chr6.hg19:g.110729641T>C		0					DDO_ENST00000368923.3_Silent_p.T87T	p.T87T	NM_003649.2	NP_003640.2	0	0	0	1.973144	Q99489	OXDD_HUMAN		3	276	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	1	1	hg19	c.261A>G	CCDS5082.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				45	45		183	179	1		1	0		0	0	58	0		1	7.935832e-01	0	1	0	13	0	45	183
DDO	8528	broad.mit.edu	37	6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A	rs370410187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	12					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522																																						ENST00000368924.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(118-120)Ggt>Tgt		D-aspartate oxidase							145.0	139.0	141.0					6																	110734632		2203	4300	6503	SO:0001583	missense	8528	0	0					g.chr6:110734632C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.118G>T	chr6.hg19:g.110734632C>A	ENSP00000357920:p.Gly40Cys	0					DDO_ENST00000368923.3_Missense_Mutation_p.G40C	p.G40C	NM_003649.2	NP_003640.2	0	0	0	1.973144	Q99489	OXDD_HUMAN		2	133	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	1	1	hg19	c.118G>T	CCDS5082.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471670	0.84533	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.99860	-7.25;-7.25;-7.25	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.110120	0.64402	D	0.000009	D	0.99926	0.9966	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96008	0.8999	10	0.87932	D	0	-18.4927	18.6022	0.91253	0.0:1.0:0.0:0.0	.	40;40	Q99489-4;Q99489-3	.;.	C	40;40;12	ENSP00000357920:G40C;ENSP00000357919:G40C;ENSP00000357921:G12C	ENSP00000357919:G40C	G	-	1	0	0	DDO	110841325	110841325	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	7.065000	0.76727	2.475000	0.83589	0.462000	0.41574	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1	0	0	1		17	2	2	1		1	1	184		184	182	1	2.060000	-20.000000	1	0.170000				140	137		769	755	1		1	0		1	0	184	0		1	5.734692e-01	0	1	0	11	0	140	769
AMD1	262	broad.mit.edu	37	6	111213405	111213405	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000368877.5_Splice_Site_p.W128R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Splice_Site_p.W9R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	157					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)			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)	TTCTGACTGTTGGTATGTTTA	0.313																																						ENST00000368885.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(469-471)Tgg>Cgg		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						308.0	286.0	293.0					6																	111213405		2203	4300	6503	SO:0001630	splice_region_variant	262	0	0					g.chr6:111213405T>C	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.470+1T>C	chr6.hg19:g.111213405T>C		0					AMD1_ENST00000368882.3_Splice_Site_p.W9R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Splice_Site_p.W128R	p.W157R	NM_001634.4	NP_001625.2	0	0	0	1.973144	P17707	DCAM_HUMAN		5	805	+		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)	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	ENST00000368885.3	1	0	hg19	c.469T>C	CCDS5086.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248273	0.80024	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.86902	0.2055	9	0.66056	D	0.02	.	13.8004	0.63196	0.0:0.0:0.0:1.0	.	128;157	A6NNH3;P17707	.;DCAM_HUMAN	R	157;9;128;88	.	ENSP00000357870:W88R	W	+	1	0	0	AMD1	111320098	111320098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.652000	0.83633	2.003000	0.58678	0.402000	0.26972	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1	1	0	1		2	2	2	0		0	0	189		189	188	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		187	182		755	742	1		1	1		0	0	189	0		1	1	0	62	0	137	0	187	755
RPF2	84154	broad.mit.edu	37	6	111310254	111310254	+	Silent	SNP	T	T	C	rs369612477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.		G -> S (in dbSNP:rs6909298).			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AACCATACGGTGTACTATATA	0.249																																						ENST00000441448.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.996409	0.990000	1.000000																										0				7						c.(178-180)ggT>ggC		ribosome production factor 2 homolog (S. cerevisiae)		T		0,4372		0,0,2186	41.0	44.0	43.0		180	-9.8	0.0	6		43	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RPF2	NM_032194.1		0,1,6479	CC,CT,TT		0.0116,0.0,0.0077		60/307	111310254	1,12959	2186	4294	6480	SO:0001819	synonymous_variant	84154	1	121310	29				g.chr6:111310254T>C	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.180T>C	chr6.hg19:g.111310254T>C		0						p.G60G	NM_032194.1	NP_115570.1	0	0	0	1.973144	Q9H7B2	RPF2_HUMAN		3	272	+			Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	1	1	hg19	c.180T>C	CCDS5088.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.249	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-9.594725	1	0.170000	NM_032194			12	12		62	61	1		1	1		0	0	16	0		9.993338e-01	9.999983e-01	0	49	0	111	0	12	62
SLC16A10	117247	broad.mit.edu	37	6	111493992	111493992	+	Silent	SNP	C	C	A	rs562101130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	146					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AAACAGCTGTCGTGGGTGCTG	0.428																																						ENST00000368851.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(436-438)gtC>gtA		solute carrier family 16 (aromatic amino acid transporter), member 10	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)						264.0	249.0	254.0					6																	111493992		2203	4300	6503	SO:0001819	synonymous_variant	117247	0	0					g.chr6:111493992C>A	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.438C>A	chr6.hg19:g.111493992C>A		0					SLC16A10_ENST00000465319.1_3'UTR	p.V146V	NM_018593.4	NP_061063.2	0	0	0	1.973144	Q8TF71	MOT10_HUMAN		2	613	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	1	1	hg19	c.438C>A	CCDS5089.1	1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855211	0.17106	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-6.94	0.01633	5.65	-6.94	0.01633	.	.	.	.	.	.	.	.	.	.	.	0.41365	D	0.987454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3115	0.49366	0.0:0.1161:0.1904:0.6935	.	.	.	.	X	32	.	.	S	+	2	0	0	SLC16A10	111600685	111600685	0.622000	0.27085	0.022000	0.16811	0.974000	0.67602	-0.354000	0.07681	-1.353000	0.02191	0.491000	0.48974	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	1		2	2	2	0		0	0	115		115	113	1	2.060000	-3.334047	1	0.170000				144	140		619	608	1		1	1		0	0	115	0		1	9.618730e-01	0	2	0	23	0	144	619
KIAA1919	91749	broad.mit.edu	37	6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	26					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363																																						ENST00000368847.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(76-78)Aac>Cac		KIAA1919							291.0	272.0	278.0					6																	111583508		2203	4300	6503	SO:0001583	missense	91749	0	0					g.chr6:111583508A>C	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.76A>C	chr6.hg19:g.111583508A>C	ENSP00000357840:p.Asn26His	0						p.N26H	NM_153369.2	NP_699200.2	0	0	0	1.973144	Q5TF39	NAGT1_HUMAN		2	429	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	1	1	hg19	c.76A>C	CCDS5090.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728643	0.89390	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	5.84	0.93424	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.68952	2.095	0.53005	D	0.999962	P	0.46784	0.884	P	0.59424	0.857	T	0.62096	-0.6926	10	0.46703	T	0.11	-24.5747	15.8764	0.79166	1.0:0.0:0.0:0.0	.	26	Q5TF39	NAGT1_HUMAN	H	26	ENSP00000357840:N26H	ENSP00000357840:N26H	N	+	1	0	0	KIAA1919	111690201	111690201	1.000000	0.71417	0.800000	0.32199	0.934000	0.57294	8.088000	0.89523	2.234000	0.73211	0.459000	0.35465	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_153369			165	164		700	685	1		1	1		0	0	120	0		1	5.366620e-01	0	3	0	6	0	165	700
REV3L	5980	broad.mit.edu	37	6	111621261	111621261	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000358835.3	-	33	9805	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000368802.3_Silent_p.L3117L|RP5-1112D6.7_ENST00000607386.1_lincRNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Silent_p.L3039L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3117					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)			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)		GTGCCTTGGACAATTCTCTAT	0.393								DNA polymerases (catalytic subunits)																														ENST00000358835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(9349-9351)ttG>ttA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							153.0	154.0	154.0					6																	111621261		2203	4300	6503	SO:0001819	synonymous_variant	5980	0	0					g.chr6:111621261C>T	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.9351G>A	chr6.hg19:g.111621261C>T		0					REV3L_ENST00000435970.1_Silent_p.L3039L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000368805.1_Silent_p.L3117L|RP5-1112D6.7_ENST00000607386.1_lincRNA	p.L3117L			0	0	0	1.973144	O60673	DPOLZ_HUMAN		33	9805	-		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)	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	1	1	hg19	c.9351G>A	CCDS5091.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	0	0	1		16	4	2	1		1	1	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_002912			99	96		442	432	1		1	1		1	0	114	0		1	9.991379e-01	0	17	0	53	0	99	442
REV3L	5980	broad.mit.edu	37	6	111678315	111678315	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000358835.3	-	19	7540	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000435970.1_Silent_p.Q2284Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2362					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)			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)		GTAATGGAGTCTGATATCTGA	0.269								DNA polymerases (catalytic subunits)																														ENST00000358835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(7084-7086)caG>caA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							64.0	69.0	67.0					6																	111678315		2203	4298	6501	SO:0001819	synonymous_variant	5980	0	0					g.chr6:111678315C>T	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.7086G>A	chr6.hg19:g.111678315C>T		0					REV3L_ENST00000435970.1_Silent_p.Q2284Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_Silent_p.Q2362Q	p.Q2362Q			0	0	0	1.973144	O60673	DPOLZ_HUMAN		19	7540	-		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)	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	1	1	hg19	c.7086G>A	CCDS5091.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.001303	1	0.170000	NM_002912			63	62		308	306	0		1	1		0	0	60	0		1	9.968178e-01	0	10	0	35	0	63	308
REV3L	5980	broad.mit.edu	37	6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000358835.3	-	14	6078	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1875	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)			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)		CAGAATGTTAGCAGTTCGAGG	0.418								DNA polymerases (catalytic subunits)																														ENST00000358835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(5623-5625)gCt>gAt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							183.0	189.0	187.0					6																	111693934		2203	4300	6503	SO:0001583	missense	5980	0	0					g.chr6:111693934G>T	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.5624C>A	chr6.hg19:g.111693934G>T	ENSP00000351697:p.Ala1875Asp	0					REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D	p.A1875D			0	0	0	1.973144	O60673	DPOLZ_HUMAN		14	6078	-		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)	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	1	1	hg19	c.5624C>A	CCDS5091.2	1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498395	0.64298	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.82;4.82;4.82;4.73	5.93	5.93	0.95920	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.125034	0.56097	D	0.000040	T	0.02012	0.0063	L	0.44542	1.39	0.42120	D	0.991422	D	0.63880	0.993	P	0.56343	0.796	T	0.70292	-0.4912	10	0.15499	T	0.54	-5.523	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	1875	O60673	DPOLZ_HUMAN	D	1875;1875;1875;1797	ENSP00000357792:A1875D;ENSP00000357795:A1875D;ENSP00000351697:A1875D;ENSP00000402003:A1797D	ENSP00000351697:A1875D	A	-	2	0	0	REV3L	111800627	111800627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.631000	0.83237	2.805000	0.96524	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1		2	2	2	0		0	0	189		189	185	1	2.060000	-20.000000	1	0.170000	NM_002912			157	157		713	696	1		1	1		0	0	189	0		1	9.967379e-01	0	9	0	32	0	157	713
REV3L	5980	broad.mit.edu	37	6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000358835.3	-	14	4934	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1494					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)			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)		GATAACGACCTCGGTTTTACT	0.378								DNA polymerases (catalytic subunits)																														ENST00000358835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(4480-4482)Agg>Tgg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							131.0	126.0	128.0					6																	111695078		2203	4300	6503	SO:0001583	missense	5980	0	0					g.chr6:111695078T>A	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.4480A>T	chr6.hg19:g.111695078T>A	ENSP00000351697:p.Arg1494Trp	0					REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W	p.R1494W			0	0	0	1.973144	O60673	DPOLZ_HUMAN		14	4934	-		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)	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	1	1	hg19	c.4480A>T	CCDS5091.2	1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096552	0.36952	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01887	4.67;4.67;4.67;4.58	6.04	3.7	0.42460	6.04	3.7	0.42460	Ribonuclease H-like (1);	0.279477	0.30201	N	0.010167	T	0.01523	0.0049	L	0.40543	1.245	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.41324	-0.9515	10	0.87932	D	0	-5.225	14.0764	0.64893	0.0:0.0:0.2772:0.7228	.	1494	O60673	DPOLZ_HUMAN	W	1494;1494;1494;1416	ENSP00000357792:R1494W;ENSP00000357795:R1494W;ENSP00000351697:R1494W;ENSP00000402003:R1416W	ENSP00000351697:R1494W	R	-	1	2	2	REV3L	111801771	111801771	0.014000	0.17966	0.730000	0.30809	0.690000	0.40134	1.863000	0.39459	1.065000	0.40693	0.460000	0.39030	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_002912			132	131		600	583	1		1	1		0	0	130	0		1	9.908594e-01	0	2	0	33	0	132	600
REV3L	5980	broad.mit.edu	37	6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000358835.3	-	9	1349	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	299					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)			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)		TGAAATTTTTTTTCACTTTCT	0.289								DNA polymerases (catalytic subunits)																														ENST00000358835.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(895-897)Aaa>Caa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							51.0	55.0	54.0					6																	111709256		2203	4298	6501	SO:0001583	missense	5980	0	0					g.chr6:111709256T>G	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.895A>C	chr6.hg19:g.111709256T>G	ENSP00000351697:p.Lys299Gln	0					REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q	p.K299Q			0	0	0	1.973144	O60673	DPOLZ_HUMAN		9	1349	-		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)	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	1	1	hg19	c.895A>C	CCDS5091.2	1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660422	0.67586	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.35	5.35	0.76521	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.156429	0.45867	D	0.000334	T	0.15955	0.0384	L	0.45581	1.43	0.35880	D	0.828879	P	0.47409	0.895	B	0.39706	0.307	T	0.04041	-1.0982	10	0.29301	T	0.29	.	15.3194	0.74109	0.0:0.0:0.0:1.0	.	299	O60673	DPOLZ_HUMAN	Q	299;299;299;221	ENSP00000357792:K299Q;ENSP00000357795:K299Q;ENSP00000351697:K299Q;ENSP00000402003:K221Q	ENSP00000351697:K299Q	K	-	1	0	0	REV3L	111815949	111815949	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	6.903000	0.75703	2.017000	0.59298	0.482000	0.46254	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_002912			46	45		198	195	1		1	1		0	0	47	0		1	8.547128e-01	0	6	0	11	0	46	198
WISP3	8838	broad.mit.edu	37	6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000368666.2	+	2	460	c.174G>T	c.(172-174)aaG>aaT	p.K58N	WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	58	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527																																						ENST00000368666.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(172-174)aaG>aaT		WNT1 inducible signaling pathway protein 3							137.0	126.0	130.0					6																	112382319		2203	4300	6503	SO:0001583	missense	8838	0	0					g.chr6:112382319G>T	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.174G>T	chr6.hg19:g.112382319G>T	ENSP00000357655:p.Lys58Asn	0					WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	p.K58N	NM_198239.1	NP_937882.1	0	0	0	1.973144	O95389	WISP3_HUMAN		2	460	+		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)	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	1	1	hg19	c.174G>T	CCDS5098.1	1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141233	0.09083	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.58	3.71	0.42584	4.58	3.71	0.42584	Insulin-like growth factor-binding protein, IGFBP (3);	0.860116	0.09750	N	0.760779	T	0.30293	0.0760	L	0.44542	1.39	0.18873	N	0.999986	P;B	0.37276	0.589;0.351	B;B	0.30943	0.117;0.122	T	0.24977	-1.0145	10	0.62326	D	0.03	.	5.8736	0.18816	0.2242:0.148:0.6278:0.0	.	76;58	O95389-2;O95389	.;WISP3_HUMAN	N	58;58;76;58;36	ENSP00000357655:K58N;ENSP00000230529:K58N;ENSP00000354734:K76N;ENSP00000357652:K36N	ENSP00000230529:K58N	K	+	3	2	2	WISP3	112489012	112489012	0.989000	0.36119	0.690000	0.30148	0.032000	0.12392	1.954000	0.40362	1.046000	0.40249	-0.253000	0.11424	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_003880			77	76		342	338	1		1			0	0	101	0		1	0	0	0	0	0	0	77	342
TUBE1	51175	broad.mit.edu	37	6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A	rs376900146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	270					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)			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)	GAATTACCTCGTTAGGTTGAG	0.333																																						ENST00000368662.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(808-810)aCg>aTg		tubulin, epsilon 1	Vinblastine(DB00570)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	100.0	105.0	104.0		809	5.7	1.0	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBE1	NM_016262.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	270/476	112397143	2,13004	2203	4300	6503	SO:0001583	missense	51175	6	121408	39				g.chr6:112397143G>A	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.809C>T	chr6.hg19:g.112397143G>A	ENSP00000357651:p.Thr270Met	0					TUBE1_ENST00000604814.1_5'UTR	p.T270M	NM_016262.4	NP_057346.1	0	0	0	1.973144	Q9UJT0	TBE_HUMAN		8	887	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	1	1	hg19	c.809C>T	CCDS5100.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733802	0.89482	2.27E-4	1.16E-4	ENSG00000074935	ENST00000368662	T	0.73047	-0.71	5.7	5.7	0.88788	5.7	5.7	0.88788	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	270	Q9UJT0	TBE_HUMAN	M	270	ENSP00000357651:T270M	ENSP00000357651:T270M	T	-	2	0	0	TUBE1	112503836	112503836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.328000	0.96403	2.677000	0.91161	0.650000	0.86243	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_016262			85	83		349	342	1		1	1		0	0	83	0		1	9.864694e-01	0	2	0	28	0	85	349
LAMA4	3910	broad.mit.edu	37	6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1584	Laminin G-like 4. {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)			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)		TTTCCAGGTAGCTTCAGTAGG	0.473																																						ENST00000230538.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(4750-4752)gCt>gTt		laminin, alpha 4							124.0	118.0	120.0					6																	112440429		2203	4300	6503	SO:0001583	missense	3910	0	0					g.chr6:112440429G>A		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.4751C>T	chr6.hg19:g.112440429G>A	ENSP00000230538:p.Ala1584Val	0					LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V	p.A1584V	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		34	5148	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	1	1	hg19	c.4751C>T	CCDS43491.1	1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992833	0.18966	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.69	3.93	0.45458	5.69	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.564410	0.19944	N	0.102587	T	0.29093	0.0723	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.9725	0.14123	0.2293:0.0:0.5884:0.1824	.	1584;1577	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1584;1577;1577;1577	ENSP00000230538:A1584V;ENSP00000429488:A1577V;ENSP00000374114:A1577V;ENSP00000416470:A1577V	ENSP00000230538:A1584V	A	-	2	0	0	LAMA4	112547122	112547122	0.023000	0.18921	0.278000	0.24718	0.904000	0.53231	1.616000	0.36933	0.775000	0.33450	-0.263000	0.10527	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_001105206			99	97		412	401	1		1	1		0	0	116	0		1	1	0	2	0	164	0	99	412
LAMA4	3910	broad.mit.edu	37	6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	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)			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)		TCCATAACCAACTCCCAGGGT	0.423																																						ENST00000230538.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(3667-3669)gTt>gCt		laminin, alpha 4							128.0	129.0	129.0					6																	112454579		2203	4300	6503	SO:0001583	missense	3910	0	0					g.chr6:112454579A>G		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.3668T>C	chr6.hg19:g.112454579A>G	ENSP00000230538:p.Val1223Ala	0					LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A	p.V1223A	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		27	4065	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	1	1	hg19	c.3668T>C	CCDS43491.1	1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796977	0.70567	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.89	5.89	0.94794	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156231	0.56097	D	0.000034	T	0.74268	0.3694	L	0.38175	1.15	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.43251	0.235;0.413	T	0.80082	-0.1531	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1223;1216	Q16363;Q16363-2	LAMA4_HUMAN;.	A	1223;1216;1216;1216	ENSP00000230538:V1223A;ENSP00000429488:V1216A;ENSP00000374114:V1216A;ENSP00000416470:V1216A	ENSP00000230538:V1223A	V	-	2	0	0	LAMA4	112561272	112561272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.246000	0.74042	0.533000	0.62120	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_001105206			93	93		554	546	1		1	1		0	0	106	0		1	9.999999e-01	0	2	0	133	0	93	554
LAMA4	3910	broad.mit.edu	37	6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	650	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373																																						ENST00000230538.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(1948-1950)Cga>Tga		laminin, alpha 4							133.0	128.0	130.0					6																	112476778		2203	4300	6503	SO:0001587	stop_gained	3910	1	121412	30				g.chr6:112476778G>A		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.1948C>T	chr6.hg19:g.112476778G>A	ENSP00000230538:p.Arg650*	0					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA	p.R650*	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		15	2345	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	0	1	hg19	c.1948C>T	CCDS43491.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.576240	0.99210	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.42	2.35	0.29111	5.42	2.35	0.29111	.	0.213448	0.44902	D	0.000405	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6393	0.56700	0.0:0.0:0.5638:0.4362	.	.	.	.	X	650;643;643;643	.	ENSP00000230538:R650X	R	-	1	2	2	LAMA4	112583471	112583471	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	1.637000	0.37155	0.799000	0.34018	0.563000	0.77884	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-2.736655	1	0.170000	NM_001105206			93	89		379	374	1		1	0		0	0	96	0		1	9.999973e-01	0	0	0	77	0	93	379
LAMA4	3910	broad.mit.edu	37	6	112479990	112479990	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000424408.2_Silent_p.V580V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	587	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGCTTCTTGGACTAAATCAT	0.378																																						ENST00000230538.7	0.840000	0.340000	7.100000e-01	4.400000e-01	0.560000	0.582089	0.560000	0.560000																										0				100						c.(1759-1761)gtC>gtT		laminin, alpha 4							195.0	177.0	183.0					6																	112479990		2203	4300	6503	SO:0001819	synonymous_variant	3910	0	0					g.chr6:112479990G>A		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.1761C>T	chr6.hg19:g.112479990G>A		0					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000389463.4_Silent_p.V580V|RP1-142L7.5_ENST00000425503.1_RNA	p.V587V	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		14	2158	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	1	1	hg19	c.1761C>T	CCDS43491.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-4.864952	1	0.170000	NM_001105206			18	18		354	347	0		1	0		0	0	52	0		9.999803e-01	9.839036e-01	0	0	0	134	0	18	354
LAMA4	3910	broad.mit.edu	37	6	112480017	112480017	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000424408.2_Silent_p.N571N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	578	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338																																						ENST00000230538.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(1732-1734)aaC>aaT		laminin, alpha 4							195.0	175.0	182.0					6																	112480017		2203	4300	6503	SO:0001819	synonymous_variant	3910	0	0					g.chr6:112480017G>A		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.1734C>T	chr6.hg19:g.112480017G>A		0					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000389463.4_Silent_p.N571N|RP1-142L7.5_ENST00000425503.1_RNA	p.N578N	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		14	2131	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	1	1	hg19	c.1734C>T	CCDS43491.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_001105206			75	74		271	266	1		1	0		0	0	50	0		1	1	0	1	0	139	0	75	271
LAMA4	3910	broad.mit.edu	37	6	112508730	112508730	+	Silent	SNP	G	G	A	rs17073495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112508730G>A	ENST00000230538.7	-	8	1285	c.888C>T	c.(886-888)tcC>tcT	p.S296S	LAMA4_ENST00000389463.4_Silent_p.S289S|LAMA4_ENST00000522006.1_Silent_p.S289S|LAMA4_ENST00000424408.2_Silent_p.S289S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	296	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGCACCCCGGATTTGCCTT	0.532													G|||	21	0.00419329	0.0159	0.0	5008	,	,		17285	0.0		0.0	False		,,,				2504	0.0					ENST00000230538.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(886-888)tcC>tcT		laminin, alpha 4		G	,,	50,4356	52.9+/-88.7	0,50,2153	102.0	84.0	90.0		888,867,867	-11.0	0.0	6	dbSNP_123	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	0,50,6453	AA,AG,GG		0.0,1.1348,0.3844	,,	296/1824,289/1817,289/1817	112508730	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	3910	131	121412	53				g.chr6:112508730G>A		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.888C>T	chr6.hg19:g.112508730G>A		0					LAMA4_ENST00000522006.1_Silent_p.S289S|LAMA4_ENST00000424408.2_Silent_p.S289S|LAMA4_ENST00000389463.4_Silent_p.S289S	p.S296S	NM_001105206.2	NP_001098676.2	0	0	0	1.973144	Q16363	LAMA4_HUMAN		8	1285	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	1	0	hg19	c.888C>T	CCDS43491.1	1	8|8	0.003663003663003663|0.003663003663003663	8|8	0.016260162601626018|0.016260162601626018	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	8.223|8.223	0.803008|0.803008	0.16397|0.16397	0.011348|0.011348	0.0|0.0	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000521732	.|.	.|.	.|.	5.9|5.9	-11.0|-11.0	0.00169|0.00169	5.9|5.9	-11.0|-11.0	0.00169|0.00169	.|.	.|.	.|.	.|.	.|.	T|T	0.15089|0.15089	0.0364|0.0364	.|.	.|.	.|.	0.45161|0.45161	D|D	0.998171|0.998171	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42649|0.42649	-0.9439|-0.9439	4|4	.|.	.|.	.|.	.|.	1.2265|1.2265	0.01934|0.01934	0.3928:0.234:0.1963:0.1769|0.3928:0.234:0.1963:0.1769	rs17073495;rs17073495|rs17073495;rs17073495	.|.	.|.	.|.	L|W	100|109	.|.	.|.	P|R	-|-	2|1	0|2	0|2	LAMA4|LAMA4	112615423|112615423	112615423|112615423	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.658000|0.658000	0.38924|0.38924	-3.407000|-3.407000	0.00481|0.00481	-1.865000|-1.865000	0.01147|0.01147	0.655000|0.655000	0.94253|0.94253	CCG|CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-2.691844	1	0.170000	NM_001105206			47	44		181	174	1		1	1		0	0	50	0		1	1	0	5	0	142	0	47	181
RFPL4B	442247	broad.mit.edu	37	6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F	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	159	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			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)		AAGTCATGGTCCCTGGGCGTC	0.547																																						ENST00000441065.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				14						c.(475-477)tCc>tTc		ret finger protein-like 4B							71.0	75.0	74.0					6																	112671386		2203	4300	6503	SO:0001583	missense	442247	0	0					g.chr6:112671386C>T	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.476C>T	chr6.hg19:g.112671386C>T	ENSP00000423391:p.Ser159Phe	0					RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	p.S159F	NM_001013734.2	NP_001013756.2	0	0	0	1.973144	Q6ZWI9	RFPLB_HUMAN		3	788	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	A2RU91	Missense_Mutation	SNP	ENST00000441065.2	1	1	hg19	c.476C>T	CCDS34515.1	1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552209	0.45487	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.14	3.27	0.37495	4.14	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.779066	0.10503	N	0.667099	T	0.52008	0.1708	L	0.35487	1.065	0.09310	N	1	D	0.62365	0.991	P	0.56163	0.793	T	0.33979	-0.9847	10	0.26408	T	0.33	.	5.4047	0.16314	0.1975:0.7003:0.0:0.1021	.	159	Q6ZWI9	RFPLB_HUMAN	F	159	ENSP00000423391:S159F	ENSP00000423391:S159F	S	+	2	0	0	RFPL4B	112778079	112778079	0.000000	0.05858	0.043000	0.18650	0.064000	0.16182	0.069000	0.14552	1.342000	0.45619	0.655000	0.94253	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-19.999050	1	0.170000	NM_001013734			49	49		292	287	1		1	0		0	0	81	0		1	0	0	0	0	1	0	49	292
FRK	2444	broad.mit.edu	37	6	116381319	116381319	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	52	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GAGCCTGGTAATCAAACAAAG	0.532																																						ENST00000606080.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(154-156)gaT>gaC		fyn-related Src family tyrosine kinase	Regorafenib(DB08896)						102.0	104.0	103.0					6																	116381319		2203	4300	6503	SO:0001819	synonymous_variant	2444	0	0					g.chr6:116381319A>G	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.156T>C	chr6.hg19:g.116381319A>G		0						p.D52D	NM_002031.2	NP_002022.1	0	0	0	1.973144	P42685	FRK_HUMAN		1	602	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	1	1	hg19	c.156T>C	CCDS5103.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	1	0	1		2	2	2	0		0	0	120		120	120	1	2.060000	-20.000000	1	0.170000	NM_002031			92	90		467	455	0		1	1		0	0	120	0		1	7.649984e-01	0	7	0	9	0	92	467
NT5DC1	221294	broad.mit.edu	37	6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	175							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(523-525)Ttt>Ctt		5'-nucleotidase domain containing 1							92.0	93.0	92.0					6																	116439102		2203	4298	6501	SO:0001583	missense	221294	0	0					g.chr6:116439102T>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.523T>C	chr6.hg19:g.116439102T>C	ENSP00000326858:p.Phe175Leu	0						p.F175L	NM_152729.2	NP_689942.2	0	0	0	1.973144	Q5TFE4	NT5D1_HUMAN		6	605	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	1	1	hg19	c.523T>C	CCDS5104.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.311997	0.95655	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.20881	2.85;2.04	5.76	5.76	0.90799	5.76	5.76	0.90799	HAD-like domain (1);	0.109289	0.64402	D	0.000002	T	0.32102	0.0818	L	0.53561	1.675	0.80722	D	1	D;P;D	0.59767	0.986;0.94;0.984	D;P;P	0.67900	0.954;0.884;0.721	T	0.02567	-1.1140	10	0.52906	T	0.07	-8.5095	16.3634	0.83296	0.0:0.0:0.0:1.0	.	125;175;175	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	175	ENSP00000326858:F175L;ENSP00000393578:F175L	ENSP00000326858:F175L	F	+	1	0	0	NT5DC1	116545795	116545795	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.866000	0.75506	2.324000	0.78689	0.533000	0.62120	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	1	0	1		2	2	2	0		0	0	33		33	34	1	2.060000	-20.000000	1	0.170000	NM_152729			40	38		163	160	1		1	1		0	0	33	0		1	1	0	26	0	102	0	40	163
COL10A1	1300	broad.mit.edu	37	6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D|AL121963.1_ENST00000430695.1_5'Flank			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	678	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCACATTGGAGCCACTAGGAA	0.458																																						ENST00000327673.4	1.000000	0.650000	9.700000e-01	7.400000e-01	0.850000	0.856941	0.850000	1.000000																										0				13						c.(2032-2034)gCt>gAt		collagen, type X, alpha 1							104.0	113.0	110.0					6																	116441246		2203	4300	6503	SO:0001583	missense	1300	0	0					g.chr6:116441246G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.2033C>A	chr6.hg19:g.116441246G>T	ENSP00000327368:p.Ala678Asp	0					AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D	p.A678D			0	0	0	1.973144	Q03692	COAA1_HUMAN		2	2440	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	1	1	hg19	c.2033C>A	CCDS5105.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520158	0.44866	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.86097	-2.07;-2.07	5.08	5.08	0.68730	5.08	5.08	0.68730	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	P	0.59056	0.851	D	0.88058	0.2792	10	0.59425	D	0.04	.	14.4628	0.67462	0.0:0.147:0.853:0.0	.	678	Q03692	COAA1_HUMAN	D	678	ENSP00000243222:A678D;ENSP00000327368:A678D	ENSP00000243222:A678D	A	-	2	0	0	COL10A1	116547939	116547939	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.494000	0.60347	2.539000	0.85634	0.455000	0.32223	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1	1	0	1		2	2	2	0		0	0	174		174	173	1	2.060000	-11.939980	1	0.170000				53	54		666	654	0		1	0		0	0	174	0		1	1	0	0	0	1651	0	53	666
COL10A1	1300	broad.mit.edu	37	6	116442730	116442730	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G|AL121963.1_ENST00000430695.1_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	183	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCATTCATACCAGGGACTC	0.592																																						ENST00000327673.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(547-549)ggT>ggC		collagen, type X, alpha 1							47.0	47.0	47.0					6																	116442730		2203	4300	6503	SO:0001819	synonymous_variant	1300	0	0					g.chr6:116442730A>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.549T>C	chr6.hg19:g.116442730A>G		0					AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G	p.G183G			0	0	0	1.973144	Q03692	COAA1_HUMAN		2	956	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	A1L4P2	Silent	SNP	ENST00000327673.4	1	1	hg19	c.549T>C	CCDS5105.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				55	54		205	204	1		1	0		0	0	62	0		1	1	0	1	0	1373	0	55	205
DSE	29940	broad.mit.edu	37	6	116579730	116579730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116579730G>T	ENST00000540275.1	+	2	245	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					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)			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)		AGTTGGAGGAGCCCTTGGCAG	0.547																																						ENST00000540275.1	1.000000	0.820000	1	9.900000e-01	0.990000	0.986107	0.990000	1.000000																										0				35						c.(124-126)Gcc>Tcc		dermatan sulfate epimerase																																				SO:0001583	missense	29940	0	0					g.chr6:116579730G>T	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	ENST00000540275.1:c.124G>T	chr6.hg19:g.116579730G>T	ENSP00000446378:p.Ala42Ser	0					RP3-486I3.7_ENST00000448740.2_lincRNA	p.A42S			0	0	0	1.973144	Q9UL01	DSE_HUMAN		2	245	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Q5R3K6	Missense_Mutation	SNP	ENST00000540275.1	1	1	hg19	c.124G>T		1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770961	0.31320	.	.	ENSG00000111817	ENST00000540275	.	.	.	2.61	-0.625	0.11548	2.61	-0.625	0.11548	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46498	-0.9187	5	0.87932	D	0	.	2.6014	0.04867	0.4093:0.0:0.3752:0.2156	.	.	.	.	S	42	.	ENSP00000446378:A42S	A	+	1	0	0	DSE	116686423	116686423	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	0.390000	0.20768	-0.303000	0.08856	0.420000	0.28162	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DSE-203	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_013352			23	23		191	189	0		1	0		0	0	46	1		9.999995e-01	1.280082e-02	0	0	0	2	0	23	191
TSPYL1	7259	broad.mit.edu	37	6	116600781	116600781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	71					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			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)		CGGCATCCTGGGGTACGCCCC	0.701																																						ENST00000368608.3	1.000000	0.580000	1	7.000000e-01	0.850000	0.847694	0.850000	1.000000																										0				11						c.(211-213)ccC>ccT		TSPY-like 1							25.0	29.0	28.0					6																	116600781		2132	4182	6314	SO:0001819	synonymous_variant	7259	0	0					g.chr6:116600781G>A	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.213C>T	chr6.hg19:g.116600781G>A		0					RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	p.P71P	NM_003309.3	NP_003300.1	0	0	0	1.973144	Q9H0U9	TSYL1_HUMAN		1	285	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	O75885|Q5TFE6	Silent	SNP	ENST00000368608.3	1	1	hg19	c.213C>T	CCDS34518.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1	1	0	1		2	2	2	0		0	0	48		48	44	1	2.060000	-3.142705	1	0.170000				28	28		354	347	0		1	1		0	0	48	0		1	9.979879e-01	0	14	0	109	0	28	354
DSE	29940	broad.mit.edu	37	6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A	rs534459729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	97					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)			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)		TACAGTGCCCGCTGGAATGAA	0.542													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19623	0.0		0.0	False		,,,				2504	0.0041					ENST00000331677.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				35						c.(289-291)cGc>cAc		dermatan sulfate epimerase							40.0	42.0	41.0					6																	116720703		2203	4300	6503	SO:0001583	missense	29940	4	121412	33				g.chr6:116720703G>A	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.290G>A	chr6.hg19:g.116720703G>A	ENSP00000332151:p.Arg97His	0					DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.R97H	p.R97H			0	0	0	1.973144	Q9UL01	DSE_HUMAN		3	734	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	1	1	hg19	c.290G>A	CCDS5107.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678193	0.88542	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.965	T	0.42464	-0.9450	10	0.72032	D	0.01	-16.5762	19.4929	0.95059	0.0:0.0:1.0:0.0	.	116;97	B7Z765;Q9UL01	.;DSE_HUMAN	H	97;97;116;97;97	ENSP00000397597:R97H;ENSP00000404049:R97H;ENSP00000441152:R116H;ENSP00000332151:R97H;ENSP00000352567:R97H	ENSP00000332151:R97H	R	+	2	0	0	DSE	116827396	116827396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.569000	0.73992	2.835000	0.97688	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_013352			44	44		239	237	1		1	0		0	0	45	0		1	9.999485e-01	0	1	0	82	0	44	239
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000606265.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					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)			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)		TTGCTCACTCCCTGGTTGGTT	0.448																																						ENST00000331677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(460-462)tcC>tcT		dermatan sulfate epimerase							108.0	99.0	102.0					6																	116747782		2203	4300	6503	SO:0001819	synonymous_variant	29940	0	0					g.chr6:116747782C>T	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.462C>T	chr6.hg19:g.116747782C>T		0					DSE_ENST00000606265.1_3'UTR|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000359564.2_Silent_p.S154S	p.S154S			0	0	0	1.973144	Q9UL01	DSE_HUMAN		4	906	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Q5R3K6	Silent	SNP	ENST00000331677.3	1	1	hg19	c.462C>T	CCDS5107.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-3.081842	1	0.170000	NM_013352			91	90		398	390	1		1	0		0	0	99	0		1	9.999921e-01	0	0	0	76	0	91	398
DSE	29940	broad.mit.edu	37	6	116747899	116747899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000359564.2_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	193					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)			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)		AAACTTCATACAGGAGAGGAT	0.458																																						ENST00000331677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(577-579)taC>taT		dermatan sulfate epimerase							108.0	95.0	99.0					6																	116747899		2203	4300	6503	SO:0001819	synonymous_variant	29940	0	0					g.chr6:116747899C>T	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.579C>T	chr6.hg19:g.116747899C>T		0					DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_Silent_p.Y193Y	p.Y193Y			0	0	0	1.973144	Q9UL01	DSE_HUMAN		4	1023	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Q5R3K6	Silent	SNP	ENST00000331677.3	1	1	hg19	c.579C>T	CCDS5107.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.804208	1	0.170000	NM_013352			102	97		390	384	1		1	0		0	0	80	0		1	9.999987e-01	0	1	0	75	0	102	390
DSE	29940	broad.mit.edu	37	6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	714					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)			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)		CAGGTCATTGCTGATCGTCAC	0.502																																						ENST00000331677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2140-2142)gCt>gAt		dermatan sulfate epimerase							100.0	95.0	97.0					6																	116757772		2203	4300	6503	SO:0001583	missense	29940	0	0					g.chr6:116757772C>A	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.2141C>A	chr6.hg19:g.116757772C>A	ENSP00000332151:p.Ala714Asp	0					DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D	p.A714D			0	0	0	1.973144	Q9UL01	DSE_HUMAN		7	2585	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	1	1	hg19	c.2141C>A	CCDS5107.1	1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807703	0.50421	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.164825	0.56097	D	0.000029	T	0.67896	0.2942	L	0.51422	1.61	0.49389	D	0.999787	D;D	0.60160	0.987;0.987	P;P	0.60682	0.878;0.731	T	0.60969	-0.7157	10	0.33940	T	0.23	-13.3396	20.6397	0.99537	0.0:1.0:0.0:0.0	.	733;714	B7Z765;Q9UL01	.;DSE_HUMAN	D	714;733;714;714	ENSP00000404049:A714D;ENSP00000441152:A733D;ENSP00000332151:A714D;ENSP00000352567:A714D	ENSP00000332151:A714D	A	+	2	0	0	DSE	116864465	116864465	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	4.336000	0.59304	2.880000	0.98712	0.650000	0.86243	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1		2	2	2	0		0	0	115		115	116	1	2.060000	-20.000000	1	0.170000	NM_013352			78	76		440	435	1		1	0		0	0	115	0		1	9.999990e-01	0	1	0	112	0	78	440
FAM26D	221301	broad.mit.edu	37	6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	243					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493																																						ENST00000368596.3	1.000000	0.800000	1	9.200000e-01	0.990000	0.974178	0.990000	1.000000																										0				6						c.(727-729)cTc>cCc		family with sequence similarity 26, member D							115.0	112.0	113.0					6																	116879157		2203	4300	6503	SO:0001583	missense	221301	0	0					g.chr6:116879157T>C	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.728T>C	chr6.hg19:g.116879157T>C	ENSP00000357585:p.Leu243Pro	0					FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P	p.L243P			0	0	0	1.973144	Q5JW98	FA26D_HUMAN		2	772	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	1	1	hg19	c.728T>C		1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784955	0.49997	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.376324	0.22983	N	0.053285	T	0.32376	0.0827	M	0.83774	2.66	0.28482	N	0.914892	D;D	0.69078	0.997;0.988	D;P	0.63192	0.912;0.824	T	0.43032	-0.9416	10	0.59425	D	0.04	-0.0094	9.6239	0.39739	0.2437:0.0:0.0:0.7563	.	99;243	B4DTQ0;Q5JW98	.;FA26D_HUMAN	P	99;57;57;100;243	ENSP00000416976:L99P;ENSP00000357586:L57P;ENSP00000409556:L57P;ENSP00000385836:L100P;ENSP00000357585:L243P	ENSP00000357585:L243P	L	+	2	0	0	FAM26D	116985850	116985850	0.815000	0.29118	0.080000	0.20451	0.593000	0.36681	2.404000	0.44539	2.296000	0.77279	0.533000	0.62120	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-15.255640	1	0.170000	NM_153036			52	52		515	501	0		1			0	0	99	0		1	0	0	0	0	0	0	52	515
RSPH4A	345895	broad.mit.edu	37	6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	212					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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478									Kartagener syndrome																													ENST00000229554.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(634-636)Cag>Tag		radial spoke head 4 homolog A (Chlamydomonas)							67.0	78.0	75.0					6																	116938420		2203	4300	6503	SO:0001587	stop_gained	345895	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr6:116938420C>T		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.634C>T	chr6.hg19:g.116938420C>T	ENSP00000229554:p.Gln212*	0					RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*	p.Q212*	NM_001010892.2	NP_001010892.1	0	0	0	1.973144	Q5TD94	RSH4A_HUMAN		1	771	+			B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	0	1	hg19	c.634C>T	CCDS34521.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998061	0.93227	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	5.01	4.13	0.48395	5.01	4.13	0.48395	.	0.318663	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.7371	11.2373	0.48949	0.0:0.8155:0.1845:0.0	.	.	.	.	X	212;212;7;212	.	ENSP00000229554:Q212X	Q	+	1	0	0	RSPH4A	117045113	117045113	0.995000	0.38212	0.899000	0.35326	0.479000	0.33129	4.048000	0.57390	1.314000	0.45095	0.467000	0.42956	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_001010892			133	130		555	546	1		1			0	0	128	0		1	0	0	0	0	0	0	133	555
RSPH4A	345895	broad.mit.edu	37	6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	439					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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398									Kartagener syndrome																													ENST00000229554.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1315-1317)aGa>aAa		radial spoke head 4 homolog A (Chlamydomonas)							79.0	77.0	78.0					6																	116949186		2203	4300	6503	SO:0001583	missense	345895	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr6:116949186G>A		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.1316G>A	chr6.hg19:g.116949186G>A	ENSP00000229554:p.Arg439Lys	0					RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K	p.R439K	NM_001010892.2	NP_001010892.1	0	0	0	1.973144	Q5TD94	RSH4A_HUMAN		3	1453	+			B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	1	1	hg19	c.1316G>A	CCDS34521.1	1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575649	0.28092	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.15952	2.38;2.38	5.74	3.85	0.44370	5.74	3.85	0.44370	.	0.839247	0.11466	N	0.561204	T	0.02807	0.0084	N	0.12746	0.255	0.22511	N	0.999032	B;B	0.19445	0.02;0.036	B;B	0.25614	0.008;0.062	T	0.34004	-0.9846	10	0.05721	T	0.95	-8.6964	13.3698	0.60707	0.0:0.4343:0.5657:0.0	.	439;439	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	439;439;234	ENSP00000357570:R439K;ENSP00000229554:R439K	ENSP00000229554:R439K	R	+	2	0	0	RSPH4A	117055879	117055879	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.347000	0.44036	1.415000	0.47037	-0.165000	0.13383	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_001010892			65	65		328	321	1		1	0		0	0	74	0		1	0	0	1	0	0	0	65	328
ZUFSP	221302	broad.mit.edu	37	6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	474							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338																																						ENST00000368576.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1420-1422)Cca>Aca		zinc finger with UFM1-specific peptidase domain							123.0	129.0	127.0					6																	116968670		2203	4300	6503	SO:0001583	missense	221302	0	0					g.chr6:116968670G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1420C>A	chr6.hg19:g.116968670G>T	ENSP00000357565:p.Pro474Thr	0						p.P474T	NM_145062.2	NP_659499.2	0	0	0	1.973144	Q96AP4	ZUFSP_HUMAN		8	1663	-			Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	1	1	hg19	c.1420C>A	CCDS5110.1	1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019786	0.08006	.	.	ENSG00000153975	ENST00000368576	T	0.28255	1.62	5.28	1.43	0.22495	5.28	1.43	0.22495	.	0.488081	0.22018	N	0.065772	T	0.07593	0.0191	L	0.46157	1.445	0.22240	N	0.99927	B	0.21381	0.055	B	0.18263	0.021	T	0.39683	-0.9602	10	0.17832	T	0.49	-3.6716	5.8903	0.18909	0.2433:0.3319:0.4247:0.0	.	474	Q96AP4	ZUFSP_HUMAN	T	474	ENSP00000357565:P474T	ENSP00000357565:P474T	P	-	1	0	0	ZUFSP	117075363	117075363	0.995000	0.38212	0.014000	0.15608	0.352000	0.29268	0.566000	0.23593	-0.026000	0.13895	-0.657000	0.03884	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_145062			74	69		356	346	1		1	1		0	0	109	0		1	9.726228e-01	0	7	0	23	0	74	356
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	15							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328																																						ENST00000368576.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(43-45)Cca>Aca		zinc finger with UFM1-specific peptidase domain							78.0	79.0	78.0					6																	116988313		2197	4297	6494	SO:0001583	missense	221302	0	0					g.chr6:116988313G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.43C>A	chr6.hg19:g.116988313G>T	ENSP00000357565:p.Pro15Thr	0					ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T	p.P15T	NM_145062.2	NP_659499.2	0	0	0	1.973144	Q96AP4	ZUFSP_HUMAN		2	286	-			Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	1	1	hg19	c.43C>A	CCDS5110.1	1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474248	0.26423	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.41758	0.99;1.69	5.94	2.01	0.26516	5.94	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.556492	0.20197	N	0.097170	T	0.12220	0.0297	L	0.46157	1.445	0.26349	N	0.977233	B	0.27013	0.166	B	0.28916	0.096	T	0.21965	-1.0230	10	0.30854	T	0.27	-7.5367	1.1741	0.01832	0.2616:0.1504:0.4327:0.1552	.	15	Q96AP4	ZUFSP_HUMAN	T	15	ENSP00000357565:P15T;ENSP00000357562:P15T	ENSP00000357562:P15T	P	-	1	0	0	ZUFSP	117095006	117095006	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.902000	0.28459	0.350000	0.24002	-0.367000	0.07326	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_145062			79	79		378	375	1		1	1		0	0	90	0		1	9.831682e-01	0	11	0	22	0	79	378
KPNA5	3841	broad.mit.edu	37	6	117037383	117037383	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	217	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)			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)		TCTTGGCAGGTTATTAACAAA	0.318																																						ENST00000368564.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(658-660)Tta>Cta		karyopherin alpha 5 (importin alpha 6)							53.0	56.0	55.0					6																	117037383		2203	4300	6503	SO:0001630	splice_region_variant	3841	4	121410	34				g.chr6:117037383T>C	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.657-1T>C	chr6.hg19:g.117037383T>C		0					KPNA5_ENST00000356348.1_Splice_Site_p.L220L	p.L220L			0	0	0	1.973144	O15131	IMA6_HUMAN		8	806	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	B2RAI5|Q86X23	Splice_Site	SNP	ENST00000368564.1	1	0	hg19	c.658T>C	CCDS5111.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	1	0	1		15	2	2	0		0	1	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_002269	Silent		49	49		220	219	1		1	0		0	0	63	0		9.999989e-01	8.937778e-02	0	1	0	2	0	49	220
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	515					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)			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)		GTTACCTTAAGATTCCTGAAC	0.428																																						ENST00000310357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1543-1545)Ctt>Ttt		G protein-coupled receptor, class C, group 6, member A							163.0	140.0	148.0					6																	117121752		2203	4300	6503	SO:0001583	missense	222545	0	0					g.chr6:117121752G>A	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.1543C>T	chr6.hg19:g.117121752G>A	ENSP00000309493:p.Leu515Phe	0					GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	p.L515F	NM_148963.2	NP_683766.2	0	0	0	1.973144	Q5T6X5	GPC6A_HUMAN		4	1564	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	1	1	hg19	c.1543C>T	CCDS5112.1	1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792635	0.16258	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.51;-2.76	5.35	4.49	0.54785	5.35	4.49	0.54785	.	0.000000	0.44483	D	0.000448	T	0.79015	0.4375	N	0.08118	0	0.36485	D	0.868098	D;D	0.56968	0.978;0.974	P;P	0.54815	0.761;0.553	T	0.83025	-0.0165	10	0.56958	D	0.05	.	5.8547	0.18712	0.3116:0.0:0.6884:0.0	.	340;515	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	F	515;340	ENSP00000309493:L515F;ENSP00000433465:L340F	ENSP00000309493:L515F	L	-	1	0	0	GPRC6A	117228445	117228445	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.238000	0.43070	1.498000	0.48600	0.585000	0.79938	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				89	85		388	382	1		1			0	0	65	0		1	0	0	0	0	0	0	89	388
RFX6	222546	broad.mit.edu	37	6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	124					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)			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						ACACAGCTCACGCTGCAGTGG	0.468																																						ENST00000332958.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				59						c.(370-372)aCg>aTg		regulatory factor X, 6							64.0	57.0	59.0					6																	117199106		2203	4300	6503	SO:0001583	missense	222546	0	0					g.chr6:117199106C>T	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.371C>T	chr6.hg19:g.117199106C>T	ENSP00000332208:p.Thr124Met	0						p.T124M	NM_173560.3	NP_775831.2	0	0	0	1.973144	Q8HWS3	RFX6_HUMAN		2	387	+			Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	1	1	hg19	c.371C>T	CCDS5113.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704563	0.88924	.	.	ENSG00000185002	ENST00000332958	D	0.83419	-1.72	5.36	4.47	0.54385	5.36	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.56097	D	0.000029	D	0.88145	0.6358	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-17.2098	14.6252	0.68616	0.0:0.9287:0.0:0.0713	.	124	Q8HWS3	RFX6_HUMAN	M	124	ENSP00000332208:T124M	ENSP00000332208:T124M	T	+	2	0	0	RFX6	117305799	117305799	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.142000	0.64820	2.789000	0.95967	0.591000	0.81541	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_173560			34	34		165	158	1		1	0		0	0	61	0		1	3.103295e-02	0	0	0	2	0	34	165
RFX6	222546	broad.mit.edu	37	6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171					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)			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						TTAGACAATTCGCCAGAAGTT	0.403																																						ENST00000332958.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				59						c.(511-513)Cgc>Tgc		regulatory factor X, 6							97.0	87.0	90.0					6																	117203536		2203	4300	6503	SO:0001583	missense	222546	1	121410	27				g.chr6:117203536C>T	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.511C>T	chr6.hg19:g.117203536C>T	ENSP00000332208:p.Arg171Cys	0						p.R171C	NM_173560.3	NP_775831.2	0	0	0	1.973144	Q8HWS3	RFX6_HUMAN		4	527	+			Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	1	1	hg19	c.511C>T	CCDS5113.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.050990	0.93740	.	.	ENSG00000185002	ENST00000332958	D	0.86694	-2.16	5.67	5.67	0.87782	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94452	0.7668	10	0.87932	D	0	-16.0365	19.7727	0.96373	0.0:1.0:0.0:0.0	.	171	Q8HWS3	RFX6_HUMAN	C	171	ENSP00000332208:R171C	ENSP00000332208:R171C	R	+	1	0	0	RFX6	117310229	117310229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.689000	0.91719	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	0		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_173560			38	37		187	186	1		1	0		0	0	50	0		1	2.075323e-01	0	0	0	5	0	38	187
RFX6	222546	broad.mit.edu	37	6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	405					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)			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						GACCAGCATGTCGTTAATTCT	0.393																																						ENST00000332958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1213-1215)gTc>gCc		regulatory factor X, 6							207.0	188.0	195.0					6																	117241504		2203	4300	6503	SO:0001583	missense	222546	0	0					g.chr6:117241504T>C	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.1214T>C	chr6.hg19:g.117241504T>C	ENSP00000332208:p.Val405Ala	0						p.V405A	NM_173560.3	NP_775831.2	0	0	0	1.973144	Q8HWS3	RFX6_HUMAN		12	1230	+			Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	1	1	hg19	c.1214T>C	CCDS5113.1	1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399836	0.62177	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.56769	1.78	0.58432	D	0.99999	P	0.39665	0.682	B	0.36134	0.218	T	0.46555	-0.9183	10	0.54805	T	0.06	-16.6606	15.8276	0.78727	0.0:0.0:0.0:1.0	.	405	Q8HWS3	RFX6_HUMAN	A	405	ENSP00000332208:V405A	ENSP00000332208:V405A	V	+	2	0	0	RFX6	117348197	117348197	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.649000	0.83500	2.122000	0.65172	0.533000	0.62120	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-20.000000	1	0.170000	NM_173560			140	138		625	615	1		1	0		0	0	159	0		1	8.932867e-02	0	0	0	3	0	140	625
RFX6	222546	broad.mit.edu	37	6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	659					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)			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						CATTAACCAAGGACCAATGGC	0.527																																						ENST00000332958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1975-1977)Gga>Tga		regulatory factor X, 6							135.0	129.0	131.0					6																	117248279		2203	4300	6503	SO:0001587	stop_gained	222546	0	0					g.chr6:117248279G>T	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.1975G>T	chr6.hg19:g.117248279G>T	ENSP00000332208:p.Gly659*	0						p.G659*	NM_173560.3	NP_775831.2	0	0	0	1.973144	Q8HWS3	RFX6_HUMAN		17	1991	+			Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	0	1	hg19	c.1975G>T	CCDS5113.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.762283	0.97821	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.342302	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.095	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000332208:G659X	G	+	1	0	0	RFX6	117354972	117354972	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.142000	0.77339	2.682000	0.91365	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-3.082176	1	0.170000	NM_173560			115	111		574	563	1		1	0		0	0	122	0		1	4.605503e-01	0	0	0	9	0	115	574
VGLL2	245806	broad.mit.edu	37	6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	14					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582																																						ENST00000326274.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(40-42)cCg>cTg		vestigial-like family member 2							113.0	90.0	98.0					6																	117586967		2203	4300	6503	SO:0001583	missense	245806	0	0					g.chr6:117586967C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.41C>T	chr6.hg19:g.117586967C>T	ENSP00000320957:p.Pro14Leu	0					VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	p.P14L	NM_182645.3	NP_872586.1	0	0	0	1.973144	Q8N8G2	VGLL2_HUMAN		1	231	+			Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	1	1	hg19	c.41C>T	CCDS5115.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326846	0.81690	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.43294	0.95	5.17	4.29	0.51040	5.17	4.29	0.51040	.	0.072118	0.56097	D	0.000031	T	0.22666	0.0547	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.60160	0.456;0.987	B;P	0.45377	0.082;0.478	T	0.03249	-1.1056	10	0.52906	T	0.07	-8.7661	14.9909	0.71387	0.1438:0.8562:0.0:0.0	.	14;14	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	L	14	ENSP00000320957:P14L	ENSP00000320957:P14L	P	+	2	0	0	VGLL2	117693660	117693660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.794000	0.47853	1.154000	0.42482	0.563000	0.77884	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.340406	1	0.170000	NM_153453			40	40		183	182	1		1	0		0	0	34	0		1	0	0	0	0	1	0	40	183
ROS1	6098	broad.mit.edu	37	6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2307					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)		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)		CATGTGGTTCCTTCTCTTCTT	0.478			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q22	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)				"""O, E"""	O, E	GOPC, SDC4, SLC34A2, EZR, LRIG3		glioblastoma, NSCLC	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				162						c.(6919-6921)aaG>aaT		ROS proto-oncogene 1 , receptor tyrosine kinase							113.0	112.0	112.0					6																	117609778		2203	4300	6503	SO:0001583	missense	6098	0	0					g.chr6:117609778C>A	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.6921G>T	chr6.hg19:g.117609778C>A	ENSP00000357494:p.Lys2307Asn	0					ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	p.K2307N	NM_002944.2	NP_002935.2	0	0	0	1.973144	P08922	ROS1_HUMAN		43	7119	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	1	1	hg19	c.6921G>T	CCDS5116.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781434	0.49891	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.74002	-0.8;-0.8	4.5	3.64	0.41730	4.5	3.64	0.41730	.	0.463960	0.18299	N	0.145467	T	0.45115	0.1326	L	0.27053	0.805	0.30118	N	0.805934	P	0.41313	0.745	B	0.38803	0.282	T	0.41520	-0.9504	10	0.72032	D	0.01	.	9.7257	0.40330	0.0:0.9041:0.0:0.0959	.	2307	P08922	ROS1_HUMAN	N	2307;2301	ENSP00000357494:K2307N;ENSP00000357493:K2301N	ENSP00000357493:K2301N	K	-	3	2	2	ROS1	117716471	117716471	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.783000	0.26802	1.118000	0.41863	0.563000	0.77884	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.166103	1	0.170000				56	56		257	254	1		1	0		0	0	73	0		1	0	0	0	0	1	0	56	257
ROS1	6098	broad.mit.edu	37	6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V780M	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	785					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)		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)		AATAGCTTCACGTGGGTAACA	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q22	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)				"""O, E"""	O, E	GOPC, SDC4, SLC34A2, EZR, LRIG3		glioblastoma, NSCLC	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				162						c.(2353-2355)Gtg>Atg		ROS proto-oncogene 1 , receptor tyrosine kinase							226.0	203.0	211.0					6																	117704623		2203	4300	6503	SO:0001583	missense	6098	2	121412	37				g.chr6:117704623C>T	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.2353G>A	chr6.hg19:g.117704623C>T	ENSP00000357494:p.Val785Met	0					ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	p.V785M	NM_002944.2	NP_002935.2	0	0	0	1.973144	P08922	ROS1_HUMAN		16	2551	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	1	1	hg19	c.2353G>A	CCDS5116.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524783	0.44969	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91577	-2.87;-2.87	4.57	3.68	0.42216	4.57	3.68	0.42216	.	0.126462	0.35378	N	0.003247	D	0.87229	0.6125	N	0.19112	0.55	0.36010	D	0.837963	D	0.76494	0.999	D	0.65987	0.94	D	0.89157	0.3527	10	0.72032	D	0.01	.	11.0181	0.47701	0.0:0.9065:0.0:0.0935	.	785	P08922	ROS1_HUMAN	M	785;780	ENSP00000357494:V785M;ENSP00000357493:V780M	ENSP00000357493:V780M	V	-	1	0	0	ROS1	117811316	117811316	0.997000	0.39634	0.916000	0.36221	0.490000	0.33462	3.832000	0.55783	2.260000	0.74910	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000				142	142		724	709	1		1			0	0	126	0		1	0	0	0	0	0	0	142	724
ROS1	6098	broad.mit.edu	37	6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	617	Fibronectin type-III 3. {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)		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)		CAGGAGGGTCTTGGGTGGATA	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q22	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)				"""O, E"""	O, E	GOPC, SDC4, SLC34A2, EZR, LRIG3		glioblastoma, NSCLC	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				162						c.(1849-1851)caA>caC		ROS proto-oncogene 1 , receptor tyrosine kinase							150.0	148.0	149.0					6																	117709106		2203	4300	6503	SO:0001583	missense	6098	1	121412	31				g.chr6:117709106T>G	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.1851A>C	chr6.hg19:g.117709106T>G	ENSP00000357494:p.Gln617His	0					ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	p.Q617H	NM_002944.2	NP_002935.2	0	0	0	1.973144	P08922	ROS1_HUMAN		13	2049	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	1	1	hg19	c.1851A>C	CCDS5116.1	1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932830	0.52866	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84800	-1.9;1.08	5.39	0.293	0.15742	5.39	0.293	0.15742	.	0.190179	0.37393	N	0.002110	T	0.75803	0.3899	L	0.47716	1.5	0.22903	N	0.998584	P	0.45348	0.856	P	0.51582	0.674	T	0.71374	-0.4612	10	0.66056	D	0.02	.	9.4166	0.38525	0.0:0.3978:0.0:0.6022	.	617	P08922	ROS1_HUMAN	H	617;612	ENSP00000357494:Q617H;ENSP00000357493:Q612H	ENSP00000357493:Q612H	Q	-	3	2	2	ROS1	117815799	117815799	0.015000	0.18098	0.207000	0.23584	0.900000	0.52787	-0.068000	0.11561	-0.094000	0.12374	0.459000	0.35465	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-20.000000	1	0.170000				154	149		658	649	1		1			0	0	167	0		1	0	0	0	0	0	0	154	658
ROS1	6098	broad.mit.edu	37	6	117718173	117718173	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.Y237Y	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	228	Fibronectin type-III 2. {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)		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)		GCCTTAAGTTATAACCCAAAA	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q22	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)				"""O, E"""	O, E	GOPC, SDC4, SLC34A2, EZR, LRIG3		glioblastoma, NSCLC	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				162						c.(682-684)taT>taC		ROS proto-oncogene 1 , receptor tyrosine kinase							120.0	125.0	123.0					6																	117718173		2203	4300	6503	SO:0001819	synonymous_variant	6098	0	0					g.chr6:117718173A>G	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.684T>C	chr6.hg19:g.117718173A>G		0					ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	p.Y228Y	NM_002944.2	NP_002935.2	0	0	0	1.973144	P08922	ROS1_HUMAN		7	882	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	1	1	hg19	c.684T>C	CCDS5116.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-20.000000	1	0.170000				127	123		553	546	1		1			0	0	138	0		1	0	0	0	0	0	0	127	553
ROS1	6098	broad.mit.edu	37	6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	21					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)		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)		CCACAGAAATCCATAGGCAGC	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q22	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)				"""O, E"""	O, E	GOPC, SDC4, SLC34A2, EZR, LRIG3		glioblastoma, NSCLC	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				162						c.(61-63)tgG>tgA		ROS proto-oncogene 1 , receptor tyrosine kinase							126.0	124.0	125.0					6																	117746757		2203	4300	6503	SO:0001587	stop_gained	6098	0	0					g.chr6:117746757C>T	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.63G>A	chr6.hg19:g.117746757C>T	ENSP00000357494:p.Trp21*	0					ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	p.W21*	NM_002944.2	NP_002935.2	0	0	0	1.973144	P08922	ROS1_HUMAN		1	261	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	0	1	hg19	c.63G>A	CCDS5116.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.047808	0.98025	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.11	4.24	0.50183	5.11	4.24	0.50183	.	0.289012	0.25848	N	0.027918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5281	0.39175	0.0:0.9049:0.0:0.0951	.	.	.	.	X	21	.	ENSP00000357493:W21X	W	-	3	0	0	ROS1	117853450	117853450	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.880000	0.56145	1.529000	0.49120	0.655000	0.94253	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				95	94		507	495	1		1			0	0	104	0		1	0	0	0	0	0	0	95	507
DCBLD1	285761	broad.mit.edu	37	6	117841037	117841037	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	128	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438																																						ENST00000338728.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(382-384)gtA>gtG		discoidin, CUB and LCCL domain containing 1							143.0	130.0	134.0					6																	117841037		2203	4300	6503	SO:0001819	synonymous_variant	285761	0	0					g.chr6:117841037A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.384A>G	chr6.hg19:g.117841037A>G		0					DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V|GOPC_ENST00000467125.1_Intron	p.V128V			0	0	0	1.973144	Q8N8Z6	DCBD1_HUMAN		3	504	+		all_cancers(87;0.171)	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	1	1	hg19	c.384A>G		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_173674			81	77		312	311	1		1	1		0	0	64	0		1	9.999973e-01	0	13	0	61	0	81	312
NUS1	116150	broad.mit.edu	37	6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	187					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378																																						ENST00000368494.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(559-561)Gca>Aca		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							64.0	67.0	66.0					6																	118015211		2203	4300	6503	SO:0001583	missense	116150	0	0					g.chr6:118015211G>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.559G>A	chr6.hg19:g.118015211G>A	ENSP00000357480:p.Ala187Thr	0						p.A187T	NM_138459.3	NP_612468.1	0	0	0	1.973144	Q96E22	NGBR_HUMAN		3	728	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	1	1	hg19	c.559G>A	CCDS5118.1	1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442613	0.12164	.	.	ENSG00000153989	ENST00000368494	T	0.15487	2.42	5.23	2.21	0.28008	5.23	2.21	0.28008	.	0.345965	0.34750	N	0.003709	T	0.01905	0.0060	N	0.20766	0.605	0.20403	N	0.99991	B	0.11235	0.004	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	-0.2215	5.2402	0.15467	0.19:0.0:0.4535:0.3565	.	187	Q96E22	NGBR_HUMAN	T	187	ENSP00000357480:A187T	ENSP00000357480:A187T	A	+	1	0	0	NUS1	118121904	118121904	0.021000	0.18746	0.640000	0.29408	0.971000	0.66376	0.198000	0.17217	0.663000	0.31027	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	1	0	1		2	2	2	0		0	0	91		91	95	1	2.060000	-20.000000	1	0.170000	NM_138459			91	87		396	362	1		1	1		0	0	91	0		1	1	0	33	0	130	0	91	396
SLC35F1	222553	broad.mit.edu	37	6	118475773	118475773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	113					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408																																						ENST00000360388.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(337-339)gcC>gcT		solute carrier family 35, member F1							147.0	144.0	145.0					6																	118475773		2203	4300	6503	SO:0001819	synonymous_variant	222553	18	121412	45				g.chr6:118475773C>T	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.339C>T	chr6.hg19:g.118475773C>T		0						p.A113A	NM_001029858.3	NP_001025029.2	0	0	0	1.973144	Q5T1Q4	S35F1_HUMAN		2	540	+			E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	1	1	hg19	c.339C>T	CCDS34524.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	1	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-2.884662	1	0.170000	XM_167044			114	105		574	558	1		1	0		0	0	142	0		1	0	0	0	0	1	0	114	574
FAM184A	79632	broad.mit.edu	37	6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000338891.7	-	5	1920	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	493						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348																																						ENST00000338891.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1477-1479)Gca>Tca		family with sequence similarity 184, member A							134.0	125.0	127.0					6																	119337965		1824	4093	5917	SO:0001583	missense	79632	0	0					g.chr6:119337965C>A	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.1477G>T	chr6.hg19:g.119337965C>A	ENSP00000342604:p.Ala493Ser	0					FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA	p.A493S	NM_024581.4	NP_078857.5	0	0	0	1.973144	Q8NB25	F184A_HUMAN		5	1920	-			B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	1	1	hg19	c.1477G>T	CCDS43499.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611390|3.611390	0.66558|0.66558	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00333|.	8.07;8.07;8.07;8.07;8.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.172963|.	0.50627|.	D|.	0.000108|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.48362|0.48362	1.52|1.52	0.48236|0.48236	D|D	0.999613|0.999613	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.39692|.	T|.	0.17|.	-11.3991|-11.3991	18.6868|18.6868	0.91567|0.91567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;373;493|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|C	493;373;373;493;373|78	ENSP00000342604:A493S;ENSP00000326608:A373S;ENSP00000357460:A373S;ENSP00000430442:A493S;ENSP00000429826:A373S|.	ENSP00000342604:A493S|.	A|W	-|-	1|3	0|0	0|0	FAM184A|FAM184A	119379664|119379664	119379664|119379664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.163000|3.163000	0.50763|0.50763	2.433000|2.433000	0.82419|0.82419	0.491000|0.491000	0.48974|0.48974	GCA|TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_024581			62	61		344	340	1		1	1		0	0	58	0		1	2.336817e-01	0	2	0	4	0	62	344
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					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)			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)				ATGCTCTGGGCTGTAATCCCA	0.403																																						ENST00000379388.2	0.700000	0.300000	5.900000e-01	3.800000e-01	0.480000	0.496389	0.480000	0.470000																										0				90						c.(3193-3195)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							76.0	75.0	75.0					6																	12123223		1867	4098	5965	SO:0001819	synonymous_variant	3096	1	120814	31				g.chr6:12123223C>T	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.3195C>T	chr6.hg19:g.12123223C>T		0					HIVEP1_ENST00000541134.1_5'Flank	p.G1065G	NM_002114.2	NP_002105.2	0	0	0	1.967613	P15822	ZEP1_HUMAN		4	3527	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	1	1	hg19	c.3195C>T	CCDS43426.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1		2	2	10	0		0	0	91		91	91	1	2.060000	-4.321358	1	0.170000	NM_002114			21	22		485	479	0		1	0	1	0	3	91	541		9.999974e-01	1.680767e-01	9.973113e-01	0	23	17	599	21	485
HIVEP1	3096	broad.mit.edu	37	6	12123531	12123531	+	Missense_Mutation	SNP	C	C	T	rs545004610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123531C>T	ENST00000379388.2	+	4	3835	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1168					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)			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)				CTGAATAGAACGGGGAAGTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17951	0.0		0.0	False		,,,				2504	0.001					ENST00000379388.2	0.690000	0.180000	5.400000e-01	2.700000e-01	0.390000	0.412882	0.390000	0.370000																										0				90						c.(3502-3504)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 1							39.0	39.0	39.0					6																	12123531		1831	4078	5909	SO:0001583	missense	3096	0	0					g.chr6:12123531C>T	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.3503C>T	chr6.hg19:g.12123531C>T	ENSP00000368698:p.Thr1168Met	0					HIVEP1_ENST00000541134.1_5'Flank	p.T1168M	NM_002114.2	NP_002105.2	0	0	0	1.967613	P15822	ZEP1_HUMAN		4	3835	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	0	1	hg19	c.3503C>T	CCDS43426.1	0	.	.	.	.	.	.	.	.	.	.	C	3.747	-0.052347	0.07362	.	.	ENSG00000095951	ENST00000379388	T	0.30182	1.54	5.72	4.86	0.63082	5.72	4.86	0.63082	.	0.231155	0.22308	N	0.061771	T	0.16085	0.0387	L	0.56769	1.78	0.09310	N	0.999999	D	0.56746	0.977	P	0.44597	0.454	T	0.08889	-1.0700	9	.	.	.	-1.3929	7.5367	0.27714	0.0:0.7144:0.1375:0.1481	.	1168	P15822	ZEP1_HUMAN	M	1168	ENSP00000368698:T1168M	.	T	+	2	0	0	HIVEP1	12231517	12231517	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.429000	0.21412	1.428000	0.47296	-0.136000	0.14681	ACG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	0	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-3.570173	1	0.170000	NM_002114			8	8		237	234	0		1	0	1	0	0	44	735		9.891702e-01	1.552457e-01	9.999878e-01	0	24	19	806	8	237
HIVEP1	3096	broad.mit.edu	37	6	12124078	12124078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					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)			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)				TTCCAGCTGGCTTGAATACTC	0.438																																						ENST00000379388.2	0.970000	0.360000	8.000000e-01	4.800000e-01	0.620000	0.645201	0.620000	1.000000																										0				90						c.(4048-4050)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							68.0	64.0	65.0					6																	12124078		1902	4128	6030	SO:0001819	synonymous_variant	3096	0	0					g.chr6:12124078C>T	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.4050C>T	chr6.hg19:g.12124078C>T		0					HIVEP1_ENST00000541134.1_5'Flank	p.G1350G	NM_002114.2	NP_002105.2	0	0	0	1.967613	P15822	ZEP1_HUMAN		4	4382	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	1	1	hg19	c.4050C>T	CCDS43426.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-16.566390	1	0.170000	NM_002114			14	14		247	244	0		1	0	1	0	0	60	617		9.997582e-01	1.291933e-01	1	1	25	10	724	14	247
HIVEP1	3096	broad.mit.edu	37	6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1764					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)			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)				GCACCAGAAGCGGGCCAAAGA	0.438																																						ENST00000379388.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(5290-5292)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 1							90.0	90.0	90.0					6																	12125318		1862	4108	5970	SO:0001583	missense	3096	0	0					g.chr6:12125318C>T	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.5290C>T	chr6.hg19:g.12125318C>T	ENSP00000368698:p.Arg1764Trp	0					HIVEP1_ENST00000541134.1_5'Flank	p.R1764W	NM_002114.2	NP_002105.2	0	0	0	1.967613	P15822	ZEP1_HUMAN		4	5622	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	1	1	hg19	c.5290C>T	CCDS43426.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244506	0.79912	.	.	ENSG00000095951	ENST00000379388	T	0.51071	0.72	5.62	2.69	0.31865	5.62	2.69	0.31865	.	0.000000	0.29106	N	0.013133	T	0.64000	0.2559	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72117	-0.4387	9	.	.	.	-24.794	14.6652	0.68901	0.3799:0.6201:0.0:0.0	.	1764	P15822	ZEP1_HUMAN	W	1764	ENSP00000368698:R1764W	.	R	+	1	2	2	HIVEP1	12233304	12233304	1.000000	0.71417	0.937000	0.37676	0.998000	0.95712	3.293000	0.51779	0.673000	0.31224	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_002114			101	99		464	456	1		1	1	1	0	0	86	589		1	9.808607e-01	1	10	116	21	452	101	464
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					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)			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)				CAGTTATGAGCGATCTGGATA	0.383																																						ENST00000379388.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				90						c.(6514-6516)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 1							84.0	91.0	89.0					6																	12161698		1948	4148	6096	SO:0001587	stop_gained	3096	1	120878	31				g.chr6:12161698C>T	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.6514C>T	chr6.hg19:g.12161698C>T	ENSP00000368698:p.Arg2172*	0					HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	p.R2172*	NM_002114.2	NP_002105.2	0	0	0	1.967613	P15822	ZEP1_HUMAN		8	6846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	0	1	hg19	c.6514C>T	CCDS43426.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	2	HIVEP1	12269684	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_002114			95	93		433	431	1		1	0	1	0	0	100	806		1	9.593374e-01	1	0	141	26	748	95	433
FAM184A	79632	broad.mit.edu	37	6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000338891.7	-	5	1793	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333																																						ENST00000338891.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1348-1350)aaG>aaT		family with sequence similarity 184, member A							84.0	80.0	81.0					6																	119338092		1803	4066	5869	SO:0001583	missense	79632	0	0					g.chr6:119338092C>A	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.1350G>T	chr6.hg19:g.119338092C>A	ENSP00000342604:p.Lys450Asn	0					FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA	p.K450N	NM_024581.4	NP_078857.5	0	0	0	1.973144	Q8NB25	F184A_HUMAN		5	1793	-			B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	1	1	hg19	c.1350G>T	CCDS43499.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938062|1.938062	0.34189|0.34189	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00351|.	7.97;7.97;7.97;7.97;7.97|.	4.94|4.94	2.16|2.16	0.27623|0.27623	4.94|4.94	2.16|2.16	0.27623|0.27623	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.39627|0.39627	0.1085|0.1085	L|L	0.53249|0.53249	1.67|1.67	0.44635|0.44635	D|D	0.997614|0.997614	B;B;B|.	0.12630|.	0.003;0.006;0.003|.	B;B;B|.	0.12156|.	0.005;0.007;0.007|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.36615|.	T|.	0.2|.	-18.0805|-18.0805	5.6092|5.6092	0.17396|0.17396	0.1389:0.636:0.0:0.2251|0.1389:0.636:0.0:0.2251	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	N|I	450;330;330;450;330|36	ENSP00000342604:K450N;ENSP00000326608:K330N;ENSP00000357460:K330N;ENSP00000430442:K450N;ENSP00000429826:K330N|.	ENSP00000342604:K450N|.	K|R	-|-	3|2	2|0	2|0	FAM184A|FAM184A	119379791|119379791	119379791|119379791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	0.768000|0.768000	0.26590|0.26590	0.146000|0.146000	0.19002|0.19002	0.491000|0.491000	0.48974|0.48974	AAG|AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.183502	1	0.170000	NM_024581			44	44		202	200	1		1	0		0	0	43	0		1	3.692134e-01	0	0	0	7	0	44	202
EDN1	1906	broad.mit.edu	37	6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	73		Cleavage; by KEL.			artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|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 endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542																																						ENST00000379375.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(217-219)tgG>tgA		endothelin 1							81.0	75.0	77.0					6																	12292728		2203	4300	6503	SO:0001587	stop_gained	1906	0	0					g.chr6:12292728G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.219G>A	chr6.hg19:g.12292728G>A	ENSP00000368683:p.Trp73*	0						p.W73*	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	0	0	0	1.967613	P05305	EDN1_HUMAN		2	486	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	Q96DA1	Nonsense_Mutation	SNP	ENST00000379375.5	0	1	hg19	c.219G>A	CCDS4522.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.185874	0.98696	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3417	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000368683:W73X	W	+	3	0	0	EDN1	12400714	12400714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.484000	0.97940	2.736000	0.93811	0.655000	0.94253	TGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-2.825490	1	0.170000	NM_001955			71	69		356	349	0		1	1		0	0	79	0		1	1	0	47	0	133	0	71	356
HSF2	3298	broad.mit.edu	37	6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000368455.4	+	13	1532	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	447					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413																																						ENST00000368455.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1339-1341)gCc>gTc		heat shock transcription factor 2							117.0	120.0	119.0					6																	122753094		2203	4300	6503	SO:0001583	missense	3298	0	0					g.chr6:122753094C>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1340C>T	chr6.hg19:g.122753094C>T	ENSP00000357440:p.Ala447Val	0					HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	p.A447V	NM_004506.3	NP_004497.1	0	0	0	1.973144	Q03933	HSF2_HUMAN		13	1532	+			B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	1	1	hg19	c.1340C>T	CCDS5124.1	1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	Vertebrate heat shock transcription factor (1);	0.246309	0.43919	D	0.000511	T	0.50051	0.1593	M	0.64404	1.975	0.45791	D	0.998672	B;P	0.46578	0.314;0.88	B;B	0.40636	0.044;0.335	T	0.61247	-0.7101	9	0.87932	D	0	-10.8781	19.2991	0.94136	0.0:1.0:0.0:0.0	.	429;447	Q03933-2;Q03933	.;HSF2_HUMAN	V	447;429	.	ENSP00000357440:A447V	A	+	2	0	0	HSF2	122794793	122794793	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_004506			94	94		617	608	1		1	1		0	0	116	0		1	9.926386e-01	0	8	0	43	0	94	617
PKIB	5570	broad.mit.edu	37	6	123046319	123046319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000368448.1	+	6	843	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K|PKIB_ENST00000354275.2_Silent_p.K72K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	72							cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294																																						ENST00000368448.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998487	0.990000	1.000000																										0				4						c.(214-216)aaG>aaA		protein kinase (cAMP-dependent, catalytic) inhibitor beta							93.0	86.0	89.0					6																	123046319		2202	4300	6502	SO:0001819	synonymous_variant	5570	0	0					g.chr6:123046319G>A		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.216G>A	chr6.hg19:g.123046319G>A		0					PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000258014.3_Silent_p.K79K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000354275.2_Silent_p.K72K	p.K72K			0	0	0	1.973144	Q9C010	IPKB_HUMAN		6	843	+			B2RCK2|Q567T9|Q5T0Z7	Silent	SNP	ENST00000368448.1	1	1	hg19	c.216G>A	CCDS5126.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-10.795970	1	0.170000				13	13		59	58	1		1	1		0	0	31	0		9.996753e-01	9.999937e-01	0	34	0	84	0	13	59
SMPDL3A	10924	broad.mit.edu	37	6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	316					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)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318																																						ENST00000368440.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999811	0.990000	1.000000																										0				10						c.(946-948)Gct>Act		sphingomyelin phosphodiesterase, acid-like 3A							111.0	110.0	110.0					6																	123127404		2203	4300	6503	SO:0001583	missense	10924	0	0					g.chr6:123127404G>A	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.946G>A	chr6.hg19:g.123127404G>A	ENSP00000357425:p.Ala316Thr	0					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	p.A316T	NM_006714.3	NP_006705.1	0	0	0	1.973144	Q92484	ASM3A_HUMAN		7	1123	+			B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	1	1	hg19	c.946G>A	CCDS5128.1	1	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337335	0.11013	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86865	-2.18;-2.18	5.76	4.87	0.63330	5.76	4.87	0.63330	.	0.299636	0.38663	N	0.001612	T	0.66056	0.2751	L	0.28192	0.835	0.47994	D	0.999561	B	0.22080	0.064	B	0.15870	0.014	T	0.64980	-0.6279	10	0.30854	T	0.27	-13.8831	9.4081	0.38473	0.0719:0.0:0.7831:0.1449	.	316	Q92484	ASM3A_HUMAN	T	316;185	ENSP00000357425:A316T;ENSP00000442152:A185T	ENSP00000357425:A316T	A	+	1	0	0	SMPDL3A	123169103	123169103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	1.533000	0.49186	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-16.823870	1	0.170000	NM_006714			35	35		218	210	1		1	1		0	0	51	0		1	9.999796e-01	0	40	0	66	0	35	218
HEY2	23493	broad.mit.edu	37	6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	201					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)			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)		CCAGCCCAACGGCCTCCATGC	0.657																																						ENST00000368364.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(601-603)Ggc>Agc		hes-related family bHLH transcription factor with YRPW motif 2							120.0	123.0	122.0					6																	126080535		2203	4300	6503	SO:0001583	missense	23493	0	0					g.chr6:126080535G>A	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.601G>A	chr6.hg19:g.126080535G>A	ENSP00000357348:p.Gly201Ser	0					HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	p.G201S	NM_012259.2	NP_036391.1	0	0	0	1.973144	Q9UBP5	HEY2_HUMAN		5	798	+				Missense_Mutation	SNP	ENST00000368364.3	1	1	hg19	c.601G>A	CCDS5131.1	1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682158	0.29872	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57752	0.39;0.38	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.710025	0.13163	N	0.408932	T	0.51975	0.1706	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.07175	T	0.84	-17.0872	19.5876	0.95496	0.0:0.0:1.0:0.0	.	201	Q9UBP5	HEY2_HUMAN	S	155;201	ENSP00000357349:G155S;ENSP00000357348:G201S	ENSP00000357348:G201S	G	+	1	0	0	HEY2	126122228	126122228	.	.	0.998000	0.56505	0.608000	0.37181	.	.	2.625000	0.88918	0.561000	0.74099	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1	1	0	0		2	2	2	0		0	0	230		230	230	1	2.060000	-20.000000	1	0.170000				256	255		1252	1227	1		1	0		0	0	230	0		1	5.263483e-01	0	0	0	10	0	256	1252
TRMT11	60487	broad.mit.edu	37	6	126319743	126319743	+	Silent	SNP	G	G	A	rs186317882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	145					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.P145P(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)		TAAAGAAACCGCAACATGTAT	0.318																																						ENST00000334379.5	0.450000	0.110000	3.500000e-01	1.700000e-01	0.250000	0.268720	0.250000	0.240000																										1	Substitution - coding silent(1)	p.P145P(1)	large_intestine(1)	18						c.(433-435)ccG>ccA		tRNA methyltransferase 11 homolog (S. cerevisiae)							93.0	93.0	93.0					6																	126319743		2203	4300	6503	SO:0001819	synonymous_variant	60487	1	121412	36				g.chr6:126319743G>A	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.435G>A	chr6.hg19:g.126319743G>A		0					TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	p.P145P	NM_001031712.2	NP_001026882.2	0	0	0	1.973144	Q7Z4G4	TRM11_HUMAN		6	556	+			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	0	1	hg19	c.435G>A	CCDS35496.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.969504	1	0.170000	NM_021820			8	8		374	369	0		1	1		0	0	61	0		9.889659e-01	4.375822e-01	0	2	0	63	0	8	374
TRMT11	60487	broad.mit.edu	37	6	126332478	126332478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000334379.5	+	9	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000368332.3_Silent_p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	280					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			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)		ATGGTTTAGAGAAGTATTACC	0.388																																						ENST00000334379.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(838-840)gaG>gaA		tRNA methyltransferase 11 homolog (S. cerevisiae)							109.0	86.0	94.0					6																	126332478		2203	4300	6503	SO:0001819	synonymous_variant	60487	0	0					g.chr6:126332478G>A	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.840G>A	chr6.hg19:g.126332478G>A		0					TRMT11_ENST00000368332.3_Silent_p.E280E	p.E280E	NM_001031712.2	NP_001026882.2	0	0	0	1.973144	Q7Z4G4	TRM11_HUMAN		9	961	+			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	1	1	hg19	c.840G>A	CCDS35496.1	1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897034	0.17686	.	.	ENSG00000066651	ENST00000453993	T	0.45276	0.9	5.62	3.85	0.44370	5.62	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05616	-1.0874	7	0.07644	T	0.81	-16.5083	7.9756	0.30153	0.3331:0.0:0.6669:0.0	.	.	.	.	K	79	ENSP00000410498:E79K	ENSP00000410498:E79K	E	+	1	0	0	TRMT11	126374171	126374171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.393000	0.46605	-0.137000	0.14449	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_021820			37	37		137	133	1		1	1		0	0	39	0		1	9.999965e-01	0	29	0	48	0	37	137
TRMT11	60487	broad.mit.edu	37	6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000334379.5	+	12	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			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)		CACATCAAGGCGCTTGATCAC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20119	0.001		0.0	False		,,,				2504	0.0					ENST00000334379.5	1.000000	0.560000	1	6.900000e-01	0.840000	0.840888	0.840000	1.000000																										0				18						c.(1225-1227)Cgc>Tgc		tRNA methyltransferase 11 homolog (S. cerevisiae)		C	CYS/ARG	0,4406		0,0,2203	81.0	78.0	79.0		1225	5.7	1.0	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRMT11	NM_001031712.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	409/464	126342391	1,13005	2203	4300	6503	SO:0001583	missense	60487	2	121412	31				g.chr6:126342391C>T	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.1225C>T	chr6.hg19:g.126342391C>T	ENSP00000333934:p.Arg409Cys	0					TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	p.R409C	NM_001031712.2	NP_001026882.2	0	0	0	1.973144	Q7Z4G4	TRM11_HUMAN		12	1346	+			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	1	1	hg19	c.1225C>T	CCDS35496.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.8	4.340821	0.81911	0.0	1.16E-4	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.877	T	0.72827	-0.4175	10	0.54805	T	0.06	-1.4668	13.9605	0.64175	0.0:0.9274:0.0:0.0726	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	C	409	ENSP00000333934:R409C;ENSP00000357316:R409C	ENSP00000333934:R409C	R	+	1	0	0	TRMT11	126384084	126384084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.745000	0.62125	2.669000	0.90835	0.585000	0.79938	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_021820			24	24		306	302	0		1	1		0	0	73	0		9.999997e-01	9.993850e-01	0	14	0	136	0	24	306
CENPW	387103	broad.mit.edu	37	6	126661536	126661536	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368326.1_Silent_p.G39G|CENPW_ENST00000368325.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W	39					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)			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517																																						ENST00000368328.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(115-117)ggT>ggC		centromere protein W							81.0	77.0	79.0					6																	126661536		2203	4300	6503	SO:0001819	synonymous_variant	387103	0	0					g.chr6:126661536T>C	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.117T>C	chr6.hg19:g.126661536T>C		0					CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G	p.G39G			0	0	0	1.973144	Q5EE01	CENPW_HUMAN		1	217	+			A6NIR0|A6NJC2	Silent	SNP	ENST00000368328.4	1	1	hg19	c.117T>C	CCDS34529.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000				63	62		283	279	1		1	1		0	0	60	0		1	9.997937e-01	0	18	0	41	0	63	283
RSPO3	84870	broad.mit.edu	37	6	127440424	127440424	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	29					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532																																						ENST00000356698.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																									PTPRK/RSPO3(10)	0				17						c.(85-87)cgC>cgT		R-spondin 3							154.0	168.0	163.0					6																	127440424		2203	4300	6503	SO:0001819	synonymous_variant	84870	0	0					g.chr6:127440424C>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.87C>T	chr6.hg19:g.127440424C>T		0					RSPO3_ENST00000368317.3_Silent_p.R29R	p.R29R	NM_032784.3	NP_116173.2	0	0	0	1.973144	Q9BXY4	RSPO3_HUMAN		1	676	+			B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	1	1	hg19	c.87C>T	CCDS5135.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000	NM_032784			79	79		498	491	1		1	0		0	0	107	0		1	4.602967e-01	0	0	0	11	0	79	498
RSPO3	84870	broad.mit.edu	37	6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	181	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463																																						ENST00000356698.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PTPRK/RSPO3(10)	0				17						c.(541-543)caG>caT		R-spondin 3							140.0	129.0	132.0					6																	127476492		2203	4300	6503	SO:0001583	missense	84870	0	0					g.chr6:127476492G>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.543G>T	chr6.hg19:g.127476492G>T	ENSP00000349131:p.Gln181His	0					RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	p.Q181H	NM_032784.3	NP_116173.2	0	0	0	1.973144	Q9BXY4	RSPO3_HUMAN		4	1132	+			B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	1	1	hg19	c.543G>T	CCDS5135.1	1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016045	0.54468	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.81659	-1.52;-1.52	5.7	2.14	0.27477	5.7	2.14	0.27477	.	0.051847	0.85682	D	0.000000	T	0.77458	0.4133	L	0.45470	1.425	0.44330	D	0.997217	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.74396	-0.3679	10	0.30854	T	0.27	-26.4136	9.0582	0.36419	0.4722:0.0:0.5278:0.0	.	181;181	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	181	ENSP00000349131:Q181H;ENSP00000357300:Q181H	ENSP00000349131:Q181H	Q	+	3	2	2	RSPO3	127518185	127518185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.589000	0.29677	0.557000	0.71058	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_032784			75	75		354	346	1		1	0		0	0	89	0		1	9.451572e-01	0	0	0	25	0	75	354
RNF146	81847	broad.mit.edu	37	6	127608109	127608109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000610153.1_Silent_p.Y117Y|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000309649.3_Silent_p.Y116Y	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	117	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423																																						ENST00000368314.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(349-351)taC>taT		ring finger protein 146							99.0	89.0	92.0					6																	127608109		2203	4300	6503	SO:0001819	synonymous_variant	81847	0	0					g.chr6:127608109C>T	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.351C>T	chr6.hg19:g.127608109C>T		0					RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Silent_p.Y117Y|RNF146_ENST00000309649.3_Silent_p.Y116Y	p.Y117Y	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	0	0	0	1.973144	Q9NTX7	RN146_HUMAN		3	775	+			E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	1	1	hg19	c.351C>T	CCDS56449.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	0	0	1		18	8	2	1		1	1	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_030963			92	90		403	392	1		1	1		1	0	95	0		1	9.999985e-01	0	17	0	142	0	92	403
RNF146	81847	broad.mit.edu	37	6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463																																						ENST00000368314.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(997-999)cGa>cAa		ring finger protein 146							74.0	72.0	73.0					6																	127608756		2203	4300	6503	SO:0001583	missense	81847	1	121404	30				g.chr6:127608756G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.998G>A	chr6.hg19:g.127608756G>A	ENSP00000357297:p.Arg333Gln	0					RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q	p.R333Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	0	0	0	1.973144	Q9NTX7	RN146_HUMAN		3	1422	+			E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	1	1	hg19	c.998G>A	CCDS56449.1	1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066358	0.07273	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25579	1.79;1.79;1.79	4.61	-0.595	0.11660	4.61	-0.595	0.11660	.	1.108200	0.07123	N	0.844185	T	0.04770	0.0129	N	0.21448	0.665	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.56958	D	0.05	0.0803	1.6901	0.02850	0.1802:0.3044:0.3591:0.1563	.	333	Q9NTX7	RN146_HUMAN	Q	333;332;332	ENSP00000357297:R333Q;ENSP00000349253:R332Q;ENSP00000309365:R332Q	ENSP00000309365:R332Q	R	+	2	0	0	RNF146	127650449	127650449	0.993000	0.37304	0.007000	0.13788	0.162000	0.22319	1.915000	0.39976	-0.231000	0.09825	0.585000	0.79938	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.376040	1	0.170000	NM_030963			62	60		293	286	1		1	1		0	0	83	0		1	1	0	19	0	112	0	62	293
ECHDC1	55862	broad.mit.edu	37	6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000488087.1_5'Flank	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	282						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383																																						ENST00000531967.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(844-846)Gaa>Aaa		enoyl CoA hydratase domain containing 1							108.0	102.0	104.0					6																	127611094		1818	4075	5893	SO:0001583	missense	55862	0	0					g.chr6:127611094C>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.844G>A	chr6.hg19:g.127611094C>T	ENSP00000436585:p.Glu282Lys	0					ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K	p.E282K	NM_001139510.1	NP_001132982.1	0	0	0	1.973144	Q9NTX5	ECHD1_HUMAN		6	1347	-			A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	1	1	hg19	c.844G>A	CCDS47471.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870546	0.91587	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.22	4.36	0.52297	5.22	4.36	0.52297	.	0.045054	0.85682	N	0.000000	D	0.86952	0.6057	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89839	0.4001	10	0.87932	D	0	-3.0695	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	282	Q9NTX5	ECHD1_HUMAN	K	276;282;276;201;259;276	ENSP00000401751:E276K;ENSP00000436585:E282K;ENSP00000434908:E276K;ENSP00000404866:E201K;ENSP00000311115:E259K;ENSP00000402492:E276K	ENSP00000311115:E259K	E	-	1	0	0	ECHDC1	127652787	127652787	1.000000	0.71417	0.727000	0.30756	0.953000	0.61014	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000				131	128		542	528	1		1	1		0	0	106	0		1	1	0	60	0	160	0	131	542
KIAA0408	9729	broad.mit.edu	37	6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	668										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)		AGATGGAGATCTGGATGCCCA	0.517																																						ENST00000483725.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(2002-2004)aGa>aTa		KIAA0408							131.0	106.0	115.0					6																	127765336		2203	4300	6503	SO:0001583	missense	9729	0	0					g.chr6:127765336C>A	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.2003G>T	chr6.hg19:g.127765336C>A	ENSP00000435150:p.Arg668Ile	0					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.R668I	NM_014702.4	NP_055517.3	0	0	0	1.973144	Q6ZU52	K0408_HUMAN		6	2339	-			B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	1	1	hg19	c.2003G>T	CCDS34531.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999775	0.93227	.	.	ENSG00000189367	ENST00000483725	T	0.22336	1.96	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.39341	U	0.001396	T	0.41213	0.1149	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13791	-1.0496	10	0.87932	D	0	-8.9135	20.6525	0.99598	0.0:1.0:0.0:0.0	.	668;551	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	I	668	ENSP00000435150:R668I	ENSP00000435150:R668I	R	-	2	0	0	KIAA0408	127807029	127807029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.269000	0.72558	2.890000	0.99128	0.585000	0.79938	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_014702			48	47		186	183	1		1	0		0	0	46	0		1	9.191204e-01	0	0	0	19	0	48	186
KIAA0408	9729	broad.mit.edu	37	6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	162										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)		ACTGAGGGCGCCAGAACAGCT	0.433																																						ENST00000483725.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(484-486)gGc>gTc		KIAA0408							86.0	83.0	84.0					6																	127771148		2203	4300	6503	SO:0001583	missense	9729	0	0					g.chr6:127771148C>A	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.485G>T	chr6.hg19:g.127771148C>A	ENSP00000435150:p.Gly162Val	0					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G162V	NM_014702.4	NP_055517.3	0	0	0	1.973144	Q6ZU52	K0408_HUMAN		3	821	-			B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	1	1	hg19	c.485G>T	CCDS34531.1	1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941767	0.18281	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.44083	1.51;0.93	5.71	2.4	0.29515	5.71	2.4	0.29515	.	0.663988	0.11713	N	0.536664	T	0.14527	0.0351	L	0.39633	1.23	0.20074	N	0.999935	B	0.32203	0.36	B	0.32022	0.139	T	0.16012	-1.0417	10	0.39692	T	0.17	-0.3259	6.567	0.22517	0.2803:0.5805:0.0:0.1392	.	162	Q6ZU52	K0408_HUMAN	V	162;174	ENSP00000435150:G162V;ENSP00000434384:G174V	ENSP00000435150:G162V	G	-	2	0	0	KIAA0408	127812841	127812841	0.089000	0.21612	0.171000	0.22900	0.851000	0.48451	1.112000	0.31172	0.693000	0.31634	0.655000	0.94253	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_014702			84	83		361	357	1		1	0		0	0	72	0		1	5.317241e-01	0	0	0	9	0	84	361
KIAA0408	9729	broad.mit.edu	37	6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127										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)		ACTTTTGATTTTTTTGTTGCT	0.418																																						ENST00000483725.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(379-381)Aaa>Taa		KIAA0408							144.0	136.0	139.0					6																	127771254		2203	4300	6503	SO:0001587	stop_gained	9729	0	0					g.chr6:127771254T>A	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.379A>T	chr6.hg19:g.127771254T>A	ENSP00000435150:p.Lys127*	0					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.K127*	NM_014702.4	NP_055517.3	0	0	0	1.973144	Q6ZU52	K0408_HUMAN		3	715	-			B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Nonsense_Mutation	SNP	ENST00000483725.3	0	1	hg19	c.379A>T	CCDS34531.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.134437	0.94517	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.18	2.82	0.32997	5.18	2.82	0.32997	.	0.161017	0.28031	U	0.016865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4347	7.355	0.26714	0.0:0.2632:0.0:0.7368	.	.	.	.	X	127;139	.	ENSP00000435150:K127X	K	-	1	0	0	KIAA0408	127812947	127812947	0.003000	0.15002	0.002000	0.10522	0.735000	0.41995	1.154000	0.31688	0.448000	0.26722	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000	NM_014702			134	133		566	550	1		1	0		0	0	104	0		1	5.390498e-01	0	0	0	9	0	134	566
C6orf58	352999	broad.mit.edu	37	6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	37						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463																																						ENST00000329722.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(109-111)cCt>cAt		chromosome 6 open reading frame 58							120.0	126.0	124.0					6																	127898440		2203	4300	6503	SO:0001583	missense	352999	0	0					g.chr6:127898440C>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.110C>A	chr6.hg19:g.127898440C>A	ENSP00000328069:p.Pro37His	0					C6orf58_ENST00000498112.1_Intron	p.P37H	NM_001010905.1	NP_001010905.1	0	0	0	1.973144	Q6P5S2	CF058_HUMAN		1	122	+			B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	1	1	hg19	c.110C>A	CCDS34533.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747510	0.69533	.	.	ENSG00000184530	ENST00000329722	T	0.52983	0.64	5.24	4.37	0.52481	5.24	4.37	0.52481	.	0.255048	0.39083	N	0.001480	T	0.61788	0.2375	M	0.83012	2.62	0.37613	D	0.920992	D	0.89917	1.0	D	0.80764	0.994	T	0.70865	-0.4756	10	0.87932	D	0	-17.8447	12.7508	0.57308	0.0:0.9185:0.0:0.0815	.	37	Q6P5S2	CF058_HUMAN	H	37	ENSP00000328069:P37H	ENSP00000328069:P37H	P	+	2	0	0	C6orf58	127940133	127940133	0.503000	0.26115	0.704000	0.30370	0.959000	0.62525	1.480000	0.35464	1.216000	0.43427	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	0	0	1		15	2	2	1		1	1	128		128	128	1	2.060000	-3.227237	1	0.170000	NM_001010905			91	89		470	456	1		1			1	0	128	0		1	0	0	0	0	0	0	91	470
THEMIS	387357	broad.mit.edu	37	6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368248.2	-	4	1662	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L|THEMIS_ENST00000368250.1_Missense_Mutation_p.P426L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	505	CABIT 2.				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)				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						GCGGCCCACAGGAATTTCCCA	0.478																																						ENST00000368248.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				60						c.(1513-1515)cCt>cTt		thymocyte selection associated							70.0	70.0	70.0					6																	128134272		2203	4300	6503	SO:0001583	missense	387357	0	0					g.chr6:128134272G>A	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.1514C>T	chr6.hg19:g.128134272G>A	ENSP00000357231:p.Pro505Leu	0					THEMIS_ENST00000368250.1_Missense_Mutation_p.P426L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L	p.P505L	NM_001010923.2	NP_001010923.1	0	0	0	1.973144	Q8N1K5	THMS1_HUMAN		4	1662	-			A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	1	1	hg19	c.1514C>T	CCDS34534.1	1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384593	0.61845	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.9	5.01	0.66863	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63427	-0.6640	10	0.87932	D	0	-14.1489	16.9552	0.86257	0.0:0.1277:0.8723:0.0	.	505;505	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	426;505;505;470	ENSP00000357233:P426L;ENSP00000439594:P505L;ENSP00000357231:P505L;ENSP00000439863:P470L	ENSP00000357231:P505L	P	-	2	0	0	THEMIS	128175965	128175965	1.000000	0.71417	0.900000	0.35374	0.978000	0.69477	7.842000	0.86851	1.459000	0.47892	0.563000	0.77884	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-2.883457	1	0.170000	NM_001010923			59	58		328	323	1		1	0		0	0	64	0		1	4.141294e-01	0	0	0	9	0	59	328
THEMIS	387357	broad.mit.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				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)				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						CTCGGTCGCCGCTTGAACTTG	0.468																																						ENST00000368248.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1030-1032)Cgg>Tgg		thymocyte selection associated							85.0	89.0	88.0					6																	128134756		2203	4300	6503	SO:0001583	missense	387357	0	0					g.chr6:128134756G>A	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.1030C>T	chr6.hg19:g.128134756G>A	ENSP00000357231:p.Arg344Trp	0					THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W	p.R344W	NM_001010923.2	NP_001010923.1	0	0	0	1.973144	Q8N1K5	THMS1_HUMAN		4	1178	-			A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	1	1	hg19	c.1030C>T	CCDS34534.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	2	THEMIS	128176449	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-3.376792	1	0.170000	NM_001010923			100	99		402	397	1		1	0		0	0	84	0		1	1.820136e-01	0	0	0	4	0	100	402
THEMIS	387357	broad.mit.edu	37	6	128176327	128176327	+	Missense_Mutation	SNP	A	A	C	rs141623918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128176327A>C	ENST00000368248.2	-	2	246	c.98T>G	c.(97-99)aTt>aGt	p.I33S	THEMIS_ENST00000543064.1_Missense_Mutation_p.I33S|THEMIS_ENST00000537166.1_5'UTR|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	33	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)				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						CATTTCATAAATAGAGCCTAA	0.289																																						ENST00000368248.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999846	0.990000	1.000000																										0				60						c.(97-99)aTt>aGt		thymocyte selection associated							37.0	37.0	37.0					6																	128176327		2201	4299	6500	SO:0001583	missense	387357	1	121170	35				g.chr6:128176327A>C	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.98T>G	chr6.hg19:g.128176327A>C	ENSP00000357231:p.Ile33Ser	0					THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_5'UTR|THEMIS_ENST00000543064.1_Missense_Mutation_p.I33S	p.I33S	NM_001010923.2	NP_001010923.1	0	0	0	1.973144	Q8N1K5	THMS1_HUMAN		2	246	-			A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	0	1	hg19	c.98T>G	CCDS34534.1	1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474656	0.63737	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.11604	2.76;2.76	5.73	4.57	0.56435	5.73	4.57	0.56435	.	0.585491	0.17487	N	0.172463	T	0.10895	0.0266	M	0.72894	2.215	0.80722	D	1	D;B	0.57571	0.98;0.379	P;B	0.48270	0.572;0.343	T	0.01725	-1.1287	10	0.87932	D	0	-1.9501	11.4026	0.49878	0.9295:0.0:0.0705:0.0	.	33;33	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	33	ENSP00000439594:I33S;ENSP00000357231:I33S	ENSP00000357231:I33S	I	-	2	0	0	THEMIS	128218020	128218020	0.996000	0.38824	0.696000	0.30242	0.873000	0.50193	4.017000	0.57167	0.995000	0.38917	0.528000	0.53228	ATT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_001010923			22	22		105	105	0		1	0		0	0	26	0		9.999994e-01	3.621042e-01	0	0	0	7	0	22	105
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	rs369678964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458																																						ENST00000368215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									PTPRK/RSPO3(10)	0				72						c.(1072-1074)Gaa>Aaa		protein tyrosine phosphatase, receptor type, K		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170.0	155.0	160.0		1072,1072	5.5	1.0	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	2203	4300	6503	SO:0001583	missense	5796	0	0					g.chr6:128505667C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1072G>A	chr6.hg19:g.128505667C>T	ENSP00000357198:p.Glu358Lys	0					PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K	p.E358K			0	0	0	1.973144	Q15262	PTPRK_HUMAN		7	1071	-			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	1	1	hg19	c.1072G>A		1	.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	0	PTPRK	128547360	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000				124	121		589	581	1		1	1		0	0	146	0		1	1	0	69	0	130	0	124	589
LAMA2	3908	broad.mit.edu	37	6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			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)		GCTCTTATCACGACCAATGCA	0.443																																						ENST00000421865.2	0.650000	0.240000	5.400000e-01	3.200000e-01	0.410000	0.434234	0.410000	0.410000																										0				194						c.(157-159)aCg>aTg		laminin, alpha 2							195.0	174.0	181.0					6																	129371108		2203	4300	6503	SO:0001583	missense	3908	1	121412	31				g.chr6:129371108C>T	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.158C>T	chr6.hg19:g.129371108C>T	ENSP00000400365:p.Thr53Met	0						p.T53M	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		2	207	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.158C>T	CCDS5138.1	0	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942453	0.73672	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76316	-1.01	5.44	5.44	0.79542	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.234157	0.36815	N	0.002397	T	0.82254	0.4997	L	0.42581	1.335	0.44834	D	0.997846	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	D	0.83824	0.0248	10	0.72032	D	0.01	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	53;53	A6NF00;P24043	.;LAMA2_HUMAN	M	53	ENSP00000400365:T53M	ENSP00000346769:T53M	T	+	2	0	0	LAMA2	129412801	129412801	0.977000	0.34250	0.999000	0.59377	0.933000	0.57130	2.192000	0.42649	2.552000	0.86080	0.561000	0.74099	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.707844	1	0.170000				15	14		406	399	0		1	0		0	0	71	0		9.998602e-01	4.664138e-01	0	0	0	42	0	15	406
LAMA2	3908	broad.mit.edu	37	6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	510	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			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)		TTTGCAAGAGGATAATTGGAA	0.433																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				194						c.(1528-1530)Gat>Aat		laminin, alpha 2							131.0	129.0	129.0					6																	129511410		2203	4300	6503	SO:0001583	missense	3908	0	0					g.chr6:129511410G>A	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.1528G>A	chr6.hg19:g.129511410G>A	ENSP00000400365:p.Asp510Asn	0						p.D510N	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		11	1577	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.1528G>A	CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023845	0.19433	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.79	2.64	0.31445	5.79	2.64	0.31445	EGF-like, laminin (4);	0.619591	0.16364	N	0.217639	T	0.13756	0.0333	N	0.04805	-0.155	0.27801	N	0.942499	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.28267	-1.0049	10	0.13108	T	0.6	.	11.4699	0.50261	0.2851:0.0:0.7149:0.0	.	510;510	A6NF00;P24043	.;LAMA2_HUMAN	N	510	ENSP00000400365:D510N	ENSP00000346769:D510N	D	+	1	0	0	LAMA2	129553103	129553103	1.000000	0.71417	0.906000	0.35671	0.980000	0.70556	1.345000	0.33953	0.805000	0.34159	-0.136000	0.14681	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				46	45		245	241	1		1	0		0	0	67	0		1	9.999781e-01	0	0	0	88	0	46	245
LAMA2	3908	broad.mit.edu	37	6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	937	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			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)		AACTGGACAGTGTGAGTGCAG	0.468																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				194						c.(2809-2811)Tgt>Ggt		laminin, alpha 2							103.0	89.0	94.0					6																	129612818		2203	4300	6503	SO:0001583	missense	3908	0	0					g.chr6:129612818T>G	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.2809T>G	chr6.hg19:g.129612818T>G	ENSP00000400365:p.Cys937Gly	0						p.C937G	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		20	2858	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.2809T>G	CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158311	0.57368	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.56	5.56	0.83823	5.56	5.56	0.83823	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	937;937	A6NF00;P24043	.;LAMA2_HUMAN	G	937	ENSP00000400365:C937G	ENSP00000346769:C937G	C	+	1	0	0	LAMA2	129654511	129654511	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.696000	0.84270	2.241000	0.73720	0.482000	0.46254	TGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				33	33		125	124	1		1	0		0	0	50	0		1	9.999996e-01	0	0	0	95	0	33	125
LAMA2	3908	broad.mit.edu	37	6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1000	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			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)		GACCGCTGTGCCCACGGCTAT	0.453																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				194						c.(2998-3000)gCc>gTc		laminin, alpha 2							68.0	63.0	65.0					6																	129618972		2203	4300	6503	SO:0001583	missense	3908	0	0					g.chr6:129618972C>T	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.2999C>T	chr6.hg19:g.129618972C>T	ENSP00000400365:p.Ala1000Val	0						p.A1000V	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		21	3048	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.2999C>T	CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435747	0.83885	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63096	-0.02	5.59	4.71	0.59529	5.59	4.71	0.59529	EGF-like, laminin (4);	0.089738	0.48286	D	0.000185	T	0.62780	0.2456	M	0.64260	1.97	0.50632	D	0.999883	D;D	0.58970	0.984;0.984	P;P	0.60236	0.871;0.871	T	0.64757	-0.6332	10	0.40728	T	0.16	.	11.413	0.49935	0.1421:0.7213:0.1366:0.0	.	1000;1000	A6NF00;P24043	.;LAMA2_HUMAN	V	1000	ENSP00000400365:A1000V	ENSP00000346769:A1000V	A	+	2	0	0	LAMA2	129660665	129660665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	1.344000	0.45657	-0.181000	0.13052	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				29	29		145	138	1		1	0		0	0	32	0		1	9.999455e-01	0	0	0	81	0	29	145
LAMA2	3908	broad.mit.edu	37	6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1062	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			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)		GCTTGTAACTGCAGCACAGTG	0.363																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				194						c.(3184-3186)tGc>tAc		laminin, alpha 2							72.0	73.0	73.0					6																	129634016		2203	4300	6503	SO:0001583	missense	3908	0	0					g.chr6:129634016G>A	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.3185G>A	chr6.hg19:g.129634016G>A	ENSP00000400365:p.Cys1062Tyr	0						p.C1062Y	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		23	3234	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.3185G>A	CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327102	0.81690	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.92	5.92	0.95590	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99368	1.0919	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1062;1062	A6NF00;P24043	.;LAMA2_HUMAN	Y	1062	ENSP00000400365:C1062Y	ENSP00000346769:C1062Y	C	+	2	0	0	LAMA2	129675709	129675709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.822000	0.97130	0.650000	0.86243	TGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000				24	24		110	105	1		1	0		0	0	26	0		9.999998e-01	9.998811e-01	0	0	0	71	0	24	110
LAMA2	3908	broad.mit.edu	37	6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1604	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)			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)		CCGCTGCCTGCGCCATATAAA	0.512																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				194						c.(4810-4812)gCg>gTg		laminin, alpha 2							89.0	78.0	82.0					6																	129687457		2203	4300	6503	SO:0001583	missense	3908	2	121408	35				g.chr6:129687457C>T	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.4811C>T	chr6.hg19:g.129687457C>T	ENSP00000400365:p.Ala1604Val	0						p.A1604V	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		33	4860	+			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	1	1	hg19	c.4811C>T	CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710739	0.30322	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.05	4.18	0.49190	5.05	4.18	0.49190	Laminin I (1);	0.125811	0.56097	N	0.000037	T	0.08223	0.0205	L	0.32530	0.975	0.37433	D	0.914102	D;D	0.67145	0.996;0.992	P;P	0.56700	0.804;0.772	T	0.24154	-1.0168	10	0.31617	T	0.26	.	11.8454	0.52381	0.0:0.919:0.0:0.081	.	1604;1604	A6NF00;P24043	.;LAMA2_HUMAN	V	1604	ENSP00000400365:A1604V	ENSP00000346769:A1604V	A	+	2	0	0	LAMA2	129729150	129729150	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	4.074000	0.57577	1.259000	0.44117	0.655000	0.94253	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				53	54		208	205	1		1	0		0	0	58	0		1	9.999988e-01	0	0	0	84	0	53	208
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						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)			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)		CACTGTCAGGTTAGTTGAGAT	0.408																																						ENST00000421865.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				194						c.e49+2		laminin, alpha 2							85.0	80.0	82.0					6																	129781471		2203	4299	6502	SO:0001630	splice_region_variant	3908	0	0					g.chr6:129781471T>C	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.6992+2T>C	chr6.hg19:g.129781471T>C		0							NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	0	0	0	1.973144	P24043	LAMA2_HUMAN		49	7041	+			Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	1	1	hg19		CCDS5138.1	1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685813	0.68157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.96	5.96	0.96718	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	LAMA2	129823164	129823164	1.000000	0.71417	0.949000	0.38748	0.500000	0.33767	7.694000	0.84235	2.270000	0.75569	0.533000	0.62120	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000		Intron		81	80		356	349	1		1			0	0	92	0		1	0	0	0	0	0	0	81	356
ARHGAP18	93663	broad.mit.edu	37	6	129950516	129950516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											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)		TGGCATCATCGCCTTTGCTCT	0.413																																						ENST00000368149.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(766-768)ggC>ggT		Rho GTPase activating protein 18							122.0	119.0	120.0					6																	129950516		2203	4300	6503	SO:0001819	synonymous_variant	93663	1	121412	29				g.chr6:129950516G>A	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.768C>T	chr6.hg19:g.129950516G>A		0						p.G256G	NM_033515.2	NP_277050.2	0	0	0	1.973144				5	856	-				Silent	SNP	ENST00000368149.2	1	1	hg19	c.768C>T	CCDS34535.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_033515			142	141		525	512	1		1	1		0	0	71	0		1	1	0	4	0	122	0	142	525
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000368134.2	-	10	1276	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000532763.1_Missense_Mutation_p.R221Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348																																						ENST00000368134.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(667-669)cGa>cAa		sterile alpha motif domain containing 3							85.0	84.0	85.0					6																	130497140		2203	4299	6502	SO:0001583	missense	154075	6	121404	39				g.chr6:130497140C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.668G>A	chr6.hg19:g.130497140C>T	ENSP00000357116:p.Arg223Gln	0					SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000532763.1_Missense_Mutation_p.R221Q	p.R223Q	NM_001258275.1	NP_001245204.1	0	0	0	1.973144	Q8N6K7	SAMD3_HUMAN		10	1276	-			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	1	1	hg19	c.668G>A	CCDS34539.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020104	0.93462	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.46819	1.0;0.99;1.0;1.0;0.86	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.52532	D	0.000073	T	0.54481	0.1861	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40813	-0.9543	10	0.19147	T	0.46	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	223	Q8N6K7	SAMD3_HUMAN	Q	223;247;223;223;221	ENSP00000357116:R223Q;ENSP00000402092:R247Q;ENSP00000403565:R223Q;ENSP00000391163:R223Q;ENSP00000436088:R221Q	ENSP00000357116:R223Q	R	-	2	0	0	SAMD3	130538833	130538833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.052490	1	0.170000	NM_152552			62	62		266	263	1		1	0		0	0	78	0		1	5.927386e-01	0	0	0	10	0	62	266
SAMD3	154075	broad.mit.edu	37	6	130505263	130505263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000368134.2	-	9	1247	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000532763.1_Silent_p.E211E	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468																																						ENST00000368134.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998733	0.990000	1.000000																										0				29						c.(637-639)gaG>gaA		sterile alpha motif domain containing 3							102.0	86.0	92.0					6																	130505263		2203	4300	6503	SO:0001819	synonymous_variant	154075	0	0					g.chr6:130505263C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.639G>A	chr6.hg19:g.130505263C>T		0					SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000532763.1_Silent_p.E211E	p.E213E	NM_001258275.1	NP_001245204.1	0	0	0	1.973144	Q8N6K7	SAMD3_HUMAN		9	1247	-			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	1	1	hg19	c.639G>A	CCDS34539.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-2.971402	1	0.170000	NM_152552			25	24		162	153	1		1	0		0	0	53	0		9.999998e-01	1.965184e-01	0	0	0	6	0	25	162
TMEM200A	114801	broad.mit.edu	37	6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000296978.3	+	3	1779	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	303						integral component of membrane (GO:0016021)				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)		ATTGATGAGCCCAGTATAGAT	0.408																																						ENST00000296978.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(907-909)cCc>cAc		transmembrane protein 200A							128.0	124.0	125.0					6																	130762475		2203	4300	6503	SO:0001583	missense	114801	0	0					g.chr6:130762475C>A	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.908C>A	chr6.hg19:g.130762475C>A	ENSP00000296978:p.Pro303His	0					TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	0	0	0	1.973144	Q86VY9	T200A_HUMAN		3	1779	+			Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	1	1	hg19	c.908C>A	CCDS5140.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400639	0.83120	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65224	-0.6220	9	0.72032	D	0.01	-33.6773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	303	Q86VY9	T200A_HUMAN	H	303	.	ENSP00000296978:P303H	P	+	2	0	0	TMEM200A	130804168	130804168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.113968	1	0.170000	NM_052913			71	71		341	335	1		1	0		0	0	108	0		1	1	0	0	0	124	0	71	341
EPB41L2	2037	broad.mit.edu	37	6	131190813	131190813	+	Missense_Mutation	SNP	C	C	T	rs150873575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131190813C>T	ENST00000337057.3	-	15	2678	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T	EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	833					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCTTAAGAGCGCCTTCGTGT	0.458																																						ENST00000337057.3	0.360000	0.160000	3.100000e-01	2.000000e-01	0.240000	0.257824	0.240000	0.250000																										0				44						c.(2497-2499)Gct>Act		erythrocyte membrane protein band 4.1-like 2		C	,,,,THR/ALA	0,4406		0,0,2203	252.0	220.0	231.0		,,,,2497	2.7	0.3	6	dbSNP_134	231	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,benign	,,,,833/1006	131190813	1,13005	2203	4300	6503	SO:0001583	missense	2037	5	121412	45				g.chr6:131190813C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2497G>A	chr6.hg19:g.131190813C>T	ENSP00000338481:p.Ala833Thr	0					EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron	p.A833T	NM_001431.3	NP_001422.1	0	0	0	1.973144	O43491	E41L2_HUMAN		15	2678	-	Breast(56;0.0639)		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	0	1	hg19	c.2497G>A	CCDS5141.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.543|3.543	-0.093344|-0.093344	0.07053|0.07053	0.0|0.0	1.16E-4|1.16E-4	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	T;T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98;1.98|.	5.71|5.71	2.66|2.66	0.31614|0.31614	5.71|5.71	2.66|2.66	0.31614|0.31614	.|.	2.696700|.	0.01772|.	N|.	0.031234|.	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25312|.	0.123;0.002;0.001|.	B;B;B|.	0.12837|.	0.008;0.0;0.0|.	T|T	0.37220|0.37220	-0.9715|-0.9715	10|5	0.13470|.	T|.	0.59|.	.|.	8.3019|8.3019	0.32019|0.32019	0.0:0.4306:0.0:0.5694|0.0:0.4306:0.0:0.5694	.|.	230;833;211|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	T|H	833;230;833;763;211;763;232|375	ENSP00000338481:A833T;ENSP00000357110:A833T;ENSP00000436348:A763T;ENSP00000437207:A211T;ENSP00000436641:A763T;ENSP00000437295:A232T|.	ENSP00000257986:A230T|.	A|R	-|-	1|2	0|0	0|0	EPB41L2|EPB41L2	131232506|131232506	131232506|131232506	0.009000|0.009000	0.17119|0.17119	0.268000|0.268000	0.24571|0.24571	0.645000|0.645000	0.38454|0.38454	0.418000|0.418000	0.21230|0.21230	0.205000|0.205000	0.20568|0.20568	0.462000|0.462000	0.41574|0.41574	GCT|CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	0	0	1		2	2	2	0		0	0	209		209	209	1	2.060000	-2.339473	0	0.170000				25	25		1140	1103	0		1	1		0	0	209	0		9.999997e-01	9.981291e-01	0	13	0	426	0	25	1140
EPB41L2	2037	broad.mit.edu	37	6	131199340	131199340	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000337057.3	-	14	2128	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	649	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453																																						ENST00000337057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1945-1947)agT>agC		erythrocyte membrane protein band 4.1-like 2							208.0	173.0	185.0					6																	131199340		2203	4300	6503	SO:0001819	synonymous_variant	2037	0	0					g.chr6:131199340A>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1947T>C	chr6.hg19:g.131199340A>G		0					EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron	p.S649S	NM_001431.3	NP_001422.1	0	0	0	1.973144	O43491	E41L2_HUMAN		14	2128	-	Breast(56;0.0639)		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	1	1	hg19	c.1947T>C	CCDS5141.1	1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641157	0.29157	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0395	0.80654	1.0:0.0:0.0:0.0	.	.	.	.	R	140	.	.	X	-	1	0	0	EPB41L2	131241033	131241033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.188000	0.69820	0.533000	0.62120	TGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				64	64		278	274	1		1	1		0	0	63	0		1	1	0	12	0	173	0	64	278
EPB41L2	2037	broad.mit.edu	37	6	131276458	131276458	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000337057.3	-	3	674		c.e3-1		EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358																																						ENST00000337057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.e3-1		erythrocyte membrane protein band 4.1-like 2							134.0	133.0	133.0					6																	131276458		2203	4300	6503	SO:0001630	splice_region_variant	2037	0	0					g.chr6:131276458C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.493-1G>A	chr6.hg19:g.131276458C>T		0					EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron		NM_001431.3	NP_001422.1	0	0	0	1.973144	O43491	E41L2_HUMAN		3	674	-	Breast(56;0.0639)		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Splice_Site	SNP	ENST00000337057.3	1	1	hg19		CCDS5141.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	EPB41L2	131318151	131318151	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	5.014000	0.64029	2.713000	0.92767	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000		Intron		92	90		503	494	0		1			0	0	108	0		1	0	0	0	0	0	0	92	503
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000366358.2_3'UTR	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	106						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323																																						ENST00000431975.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				13						c.(316-318)caG>caT		A kinase (PRKA) anchor protein 7							82.0	81.0	82.0					6																	131486247		2203	4300	6503	SO:0001583	missense	9465	0	0					g.chr6:131486247G>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.318G>T	chr6.hg19:g.131486247G>T	ENSP00000405252:p.Gln106His	0					AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H	p.Q106H	NM_016377.3	NP_057461.2	0	0	0	1.973144	Q9P0M2	AKA7G_HUMAN		4	416	+	Breast(56;0.152)		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	1	1	hg19	c.318G>T	CCDS5142.2	1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398757	0.42512	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.70045	-0.45;-0.45;-0.45	5.8	0.68	0.17980	5.8	0.68	0.17980	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	M	0.80746	2.51	0.36895	D	0.890105	D	0.76494	0.999	D	0.77004	0.989	T	0.72616	-0.4239	10	0.66056	D	0.02	-9.2246	8.3215	0.32132	0.6761:0.0:0.3239:0.0	.	106	Q9P0M2	AKA7G_HUMAN	H	106;105;84	ENSP00000405252:Q106H;ENSP00000441048:Q105H;ENSP00000357105:Q84H	ENSP00000357105:Q84H	Q	+	3	2	2	AKAP7	131527940	131527940	0.997000	0.39634	0.641000	0.29422	0.742000	0.42306	0.436000	0.21526	0.125000	0.18397	-0.295000	0.09555	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-17.065320	1	0.170000	NM_004842			29	29		146	143	1		1	1		0	0	56	0		1	8.211909e-01	0	2	0	16	0	29	146
AKAP7	9465	broad.mit.edu	37	6	131520710	131520710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000263050.3_5'Flank|AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000537868.1_5'Flank	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	233						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000431975.2	1.000000	0.800000	1	9.700000e-01	0.990000	0.982282	0.990000	1.000000																										0				13						c.(697-699)aaG>aaA		A kinase (PRKA) anchor protein 7							129.0	106.0	114.0					6																	131520710		2203	4300	6503	SO:0001819	synonymous_variant	9465	0	0					g.chr6:131520710G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.699G>A	chr6.hg19:g.131520710G>A		0		OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000537868.1_5'Flank|AKAP7_ENST00000263050.3_5'Flank	p.K233K	NM_016377.3	NP_057461.2	0	0	0	1.973144	Q9P0M2	AKA7G_HUMAN		6	797	+	Breast(56;0.152)		B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	1	1	hg19	c.699G>A	CCDS5142.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_004842			28	25		248	245	0		1	0		0	0	57	0		1	6.230353e-01	0	1	0	19	0	28	248
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	288						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507																																						ENST00000431975.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999803	0.990000	1.000000																										0				13						c.(862-864)Gga>Aga		A kinase (PRKA) anchor protein 7							58.0	59.0	58.0					6																	131602681		2203	4300	6503	SO:0001583	missense	9465	0	0					g.chr6:131602681G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.862G>A	chr6.hg19:g.131602681G>A	ENSP00000405252:p.Gly288Arg	0					AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R	p.G288R	NM_016377.3	NP_057461.2	0	0	0	1.973144	Q9P0M2	AKA7G_HUMAN		8	960	+	Breast(56;0.152)		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	1	1	hg19	c.862G>A	CCDS5142.2	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859363	0.32884	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.31769	1.48;1.48	5.8	3.01	0.34805	5.8	3.01	0.34805	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.743893	0.13078	N	0.415487	T	0.05044	0.0135	N	0.12182	0.205	0.29526	N	0.853124	B;P;B	0.37276	0.358;0.589;0.141	B;B;B	0.30105	0.111;0.111;0.028	T	0.26292	-1.0107	10	0.30078	T	0.28	-5.9237	7.7353	0.28810	0.1489:0.1412:0.7099:0.0	.	21;44;288	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	288;266;24;21;44	ENSP00000405252:G288R;ENSP00000357105:G266R	ENSP00000263050:G24R	G	+	1	0	0	AKAP7	131644374	131644374	0.996000	0.38824	0.915000	0.36163	0.992000	0.81027	2.395000	0.44459	0.772000	0.33382	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	1		2	2	2	0		0	0	58		58	55	1	2.060000	-2.781130	1	0.170000	NM_004842			32	32		193	186	1		1	0		0	0	58	0		1	7.954509e-01	0	0	0	20	0	32	193
MED23	9439	broad.mit.edu	37	6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000368068.3	-	19	2496	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	773					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)			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)		ATGTCGTTTTCGTTGCTCATT	0.393																																						ENST00000368068.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2317-2319)Gaa>Aaa		mediator complex subunit 23							193.0	182.0	186.0					6																	131919805		2203	4300	6503	SO:0001583	missense	9439	2	121412	32				g.chr6:131919805C>T	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.2317G>A	chr6.hg19:g.131919805C>T	ENSP00000357047:p.Glu773Lys	0					MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K	p.E773K	NM_004830.3	NP_004821.2	0	0	0	1.973144	Q9ULK4	MED23_HUMAN		19	2496	-	Breast(56;0.0753)		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	1	1	hg19	c.2317G>A	CCDS5147.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.590256	0.96590	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.80764	0.993;0.956;0.994;0.99	D	0.84986	0.0891	10	0.49607	T	0.09	-0.1527	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;779;773;779	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	779;773;779;773;779;414;779;779	ENSP00000346588:E779K;ENSP00000357047:E773K;ENSP00000384536:E779K;ENSP00000357039:E773K;ENSP00000357037:E779K;ENSP00000439977:E414K;ENSP00000357032:E779K;ENSP00000437818:E779K	ENSP00000346588:E779K	E	-	1	0	0	MED23	131961498	131961498	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				69	69		322	321	1		1	1		0	0	53	0		1	9.999809e-01	0	4	0	72	0	69	322
MED23	9439	broad.mit.edu	37	6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000368068.3	-	17	2166	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	663					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)			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)		GTAAACTGCGGTTGTACCTCT	0.418																																						ENST00000368068.3	1.000000	0.790000	1	9.500000e-01	0.990000	0.978191	0.990000	1.000000																										0				44						c.(1987-1989)Ccg>Tcg		mediator complex subunit 23							141.0	123.0	129.0					6																	131923466		2203	4300	6503	SO:0001583	missense	9439	0	0					g.chr6:131923466G>A	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.1987C>T	chr6.hg19:g.131923466G>A	ENSP00000357047:p.Pro663Ser	0					MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S	p.P663S	NM_004830.3	NP_004821.2	0	0	0	1.973144	Q9ULK4	MED23_HUMAN		17	2166	-	Breast(56;0.0753)		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	1	1	hg19	c.1987C>T	CCDS5147.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904542	0.72868	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.985;0.981	P;D;P;P	0.75484	0.863;0.986;0.817;0.721	T	0.81833	-0.0751	10	0.48119	T	0.1	-5.0311	19.8316	0.96638	0.0:0.0:1.0:0.0	.	304;669;663;669	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	S	669;663;669;663;52;669;304;669;669	ENSP00000346588:P669S;ENSP00000357047:P663S;ENSP00000384536:P669S;ENSP00000357039:P663S;ENSP00000357037:P669S;ENSP00000439977:P304S;ENSP00000357032:P669S;ENSP00000437818:P669S	ENSP00000346588:P669S	P	-	1	0	0	MED23	131965159	131965159	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000				32	32		296	294	1		1	1		0	0	65	0		1	9.766466e-01	0	6	0	52	0	32	296
MED23	9439	broad.mit.edu	37	6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000368068.3	-	11	1152	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	325					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)			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)		TGGCTTGTTCCCCCATCGTCA	0.498																																						ENST00000368068.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(973-975)Gga>Tga		mediator complex subunit 23							124.0	118.0	120.0					6																	131931290		2203	4300	6503	SO:0001587	stop_gained	9439	0	0					g.chr6:131931290C>A	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.973G>T	chr6.hg19:g.131931290C>A	ENSP00000357047:p.Gly325*	0					MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*	p.G325*	NM_004830.3	NP_004821.2	0	0	0	1.973144	Q9ULK4	MED23_HUMAN		11	1152	-	Breast(56;0.0753)		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	0	1	hg19	c.973G>T	CCDS5147.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.420626	0.96111	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4066	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	331;325;331;325;331;14;331;331;325	.	ENSP00000346588:G331X	G	-	1	0	0	MED23	131972983	131972983	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.730000	0.93505	0.591000	0.81541	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-2.885674	1	0.170000				67	63		350	342	1		1	0		0	0	112	0		1	9.238163e-01	0	0	0	25	0	67	350
ENPP3	5169	broad.mit.edu	37	6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	311	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)			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)		CTGCCCAAAGCTGAAAGGTAA	0.318																																						ENST00000414305.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(931-933)gCt>gTt		ectonucleotide pyrophosphatase/phosphodiesterase 3							81.0	79.0	79.0					6																	131997935		2203	4300	6503	SO:0001583	missense	5169	0	0					g.chr6:131997935C>T	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.932C>T	chr6.hg19:g.131997935C>T	ENSP00000406261:p.Ala311Val	0					ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V	p.A311V			0	0	0	1.973144	O14638	ENPP3_HUMAN		11	1260	+	Breast(56;0.0753)		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	1	1	hg19	c.932C>T	CCDS5148.1	1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703247	0.68501	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75477	-0.94;-0.94;-0.94	4.84	3.95	0.45737	4.84	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.741475	0.12195	N	0.490799	T	0.62441	0.2428	M	0.64676	1.99	0.80722	D	1	P	0.38335	0.627	B	0.41135	0.348	T	0.60826	-0.7186	10	0.34782	T	0.22	-5.1856	11.5456	0.50693	0.3241:0.6759:0.0:0.0	.	311	O14638	ENPP3_HUMAN	V	311	ENSP00000406261:A311V;ENSP00000350265:A311V;ENSP00000350964:A311V	ENSP00000350265:A311V	A	+	2	0	0	ENPP3	132039628	132039628	0.008000	0.16893	1.000000	0.80357	0.950000	0.60333	0.198000	0.17217	1.127000	0.42034	0.549000	0.68633	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				51	51		222	211	1		1	0		0	0	50	0		1	0	0	0	0	1	0	51	222
PHACTR1	221692	broad.mit.edu	37	6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	223					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562																																						ENST00000379350.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(667-669)Cct>Tct		phosphatase and actin regulator 1							46.0	48.0	48.0					6																	13206049		1985	4168	6153	SO:0001583	missense	221692	0	0					g.chr6:13206049C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.667C>T	chr6.hg19:g.13206049C>T	ENSP00000368655:p.Pro223Ser	0					PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S	p.P223S			0	0	0	1.967613	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)	7	796	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	1	1	hg19	c.667C>T		1	.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378753	0.05000	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.30182	1.54;1.57;1.64	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.186728	0.49916	D	0.000121	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.25719	0.132;0.02;0.035	B;B;B	0.22152	0.038;0.006;0.023	T	0.18461	-1.0336	10	0.25751	T	0.34	-7.4043	11.0496	0.47878	0.0:0.9158:0.0:0.0842	.	292;223;223	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	223;223;292;78	ENSP00000368655:P223S;ENSP00000329880:P223S;ENSP00000397669:P78S	ENSP00000329880:P223S	P	+	1	0	0	PHACTR1	13314028	13314028	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.245000	0.43133	2.607000	0.88179	0.561000	0.74099	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	XM_166420			55	53		213	209	1		1	0		0	0	47	0		1	3.626656e-01	0	1	0	5	0	55	213
ENPP3	5169	broad.mit.edu	37	6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	537					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)			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)		GGAACCCATGGTAGTTTAAAC	0.408																																						ENST00000414305.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1609-1611)gGt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 3							158.0	139.0	145.0					6																	132043409		2203	4300	6503	SO:0001583	missense	5169	1	121406	30				g.chr6:132043409G>A	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.1610G>A	chr6.hg19:g.132043409G>A	ENSP00000406261:p.Gly537Asp	0					ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D	p.G537D			0	0	0	1.973144	O14638	ENPP3_HUMAN		19	1938	+	Breast(56;0.0753)		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	1	1	hg19	c.1610G>A	CCDS5148.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842462	0.91197	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76839	-0.98;-0.98;-1.05	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85201	0.1015	10	0.87932	D	0	-22.0949	20.1581	0.98126	0.0:0.0:1.0:0.0	.	537	O14638	ENPP3_HUMAN	D	537	ENSP00000406261:G537D;ENSP00000350265:G537D;ENSP00000350964:G537D	ENSP00000350265:G537D	G	+	2	0	0	ENPP3	132085102	132085102	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	7.942000	0.87708	2.937000	0.99478	0.650000	0.86243	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				74	73		295	288	1		1	0		0	0	67	0		1	1.849318e-01	0	0	0	4	0	74	295
STX7	8417	broad.mit.edu	37	6	132785210	132785210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	205	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363																																						ENST00000367941.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(613-615)agC>agT		syntaxin 7							136.0	117.0	123.0					6																	132785210		2203	4300	6503	SO:0001819	synonymous_variant	8417	0	0					g.chr6:132785210G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.615C>T	chr6.hg19:g.132785210G>A		0					STX7_ENST00000367937.4_Silent_p.S205S	p.S205S	NM_003569.2	NP_003560.2	0	0	0	1.973144	O15400	STX7_HUMAN		9	728	-	Breast(56;0.0615)		E1P579|Q5SZW2|Q96ES9	Silent	SNP	ENST00000367941.2	1	1	hg19	c.615C>T	CCDS5153.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				83	75		459	442	0		1	1		0	0	96	0		1	1	0	65	0	231	0	83	459
STX7	8417	broad.mit.edu	37	6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	121					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTCTTACTCGAGCAACAAAC	0.428																																						ENST00000367941.2	0.490000	0.180000	4.000000e-01	2.400000e-01	0.310000	0.327279	0.310000	0.300000																										0				19						c.(361-363)Cga>Tga		syntaxin 7							143.0	136.0	138.0					6																	132792628		2203	4300	6503	SO:0001587	stop_gained	8417	1	121412	34				g.chr6:132792628G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.361C>T	chr6.hg19:g.132792628G>A	ENSP00000356918:p.Arg121*	0					STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	p.R121*	NM_003569.2	NP_003560.2	0	0	0	1.973144	O15400	STX7_HUMAN		5	474	-	Breast(56;0.0615)		E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	0	1	hg19	c.361C>T	CCDS5153.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.875587	0.97055	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.93	4.0	0.46444	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5279	7.0116	0.24865	0.0891:0.0:0.5468:0.3641	.	.	.	.	X	121;121;76;121	.	ENSP00000309600:R76X	R	-	1	2	2	STX7	132834321	132834321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	1.516000	0.48900	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-2.196607	0	0.170000				15	15		546	542	0		1	0		0	0	131	0		9.998664e-01	9.939375e-01	0	1	0	304	0	15	546
TAAR8	83551	broad.mit.edu	37	6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	54					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)			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)		TTAGTAATGACTTCTGTTCTT	0.448																																						ENST00000275200.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(160-162)aCt>aTt		trace amine associated receptor 8							192.0	195.0	194.0					6																	132873992		2203	4300	6503	SO:0001583	missense	83551	0	0					g.chr6:132873992C>T	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.161C>T	chr6.hg19:g.132873992C>T	ENSP00000275200:p.Thr54Ile	0						p.T54I	NM_053278.1	NP_444508.1	0	0	0	1.973144	Q969N4	TAAR8_HUMAN		1	161	+	Breast(56;0.112)		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	1	1	hg19	c.161C>T	CCDS5154.1	1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521401	0.00967	.	.	ENSG00000146385	ENST00000275200	T	0.35048	1.33	4.72	-1.44	0.08856	4.72	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.762462	0.11154	N	0.593777	T	0.02494	0.0076	N	0.01003	-1.06	0.20307	N	0.999914	B	0.02656	0.0	B	0.11329	0.006	T	0.47032	-0.9148	10	0.02654	T	1	-2.5206	10.2876	0.43577	0.0:0.1991:0.0:0.8009	.	54	Q969N4	TAAR8_HUMAN	I	54	ENSP00000275200:T54I	ENSP00000275200:T54I	T	+	2	0	0	TAAR8	132915685	132915685	0.000000	0.05858	0.037000	0.18230	0.579000	0.36224	-0.075000	0.11431	-0.328000	0.08539	0.655000	0.94253	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_053278			193	189		925	910	1		1			0	0	177	0		1	0	0	0	0	0	0	193	925
TAAR8	83551	broad.mit.edu	37	6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	330					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)			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)		TGGAGATGTTTTAAAGGCTAG	0.264																																						ENST00000275200.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(988-990)Tta>Ata		trace amine associated receptor 8							49.0	52.0	51.0					6																	132874819		2202	4300	6502	SO:0001583	missense	83551	0	0					g.chr6:132874819T>A	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.988T>A	chr6.hg19:g.132874819T>A	ENSP00000275200:p.Leu330Ile	0						p.L330I	NM_053278.1	NP_444508.1	0	0	0	1.973144	Q969N4	TAAR8_HUMAN		1	988	+	Breast(56;0.112)		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	1	1	hg19	c.988T>A	CCDS5154.1	1	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061570	0.19987	.	.	ENSG00000146385	ENST00000275200	T	0.70045	-0.45	4.3	1.76	0.24704	4.3	1.76	0.24704	.	0.460485	0.17385	N	0.176156	T	0.60431	0.2268	M	0.79805	2.47	0.19945	N	0.999946	P	0.44521	0.837	P	0.49597	0.616	T	0.56251	-0.8010	10	0.66056	D	0.02	-0.0166	8.9788	0.35953	0.0:0.1568:0.0:0.8432	.	330	Q969N4	TAAR8_HUMAN	I	330	ENSP00000275200:L330I	ENSP00000275200:L330I	L	+	1	2	2	TAAR8	132916512	132916512	0.022000	0.18835	0.003000	0.11579	0.151000	0.21798	0.819000	0.27308	0.254000	0.21573	0.459000	0.35465	TTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_053278			71	70		320	312	0		1			0	0	68	0		1	0	0	0	0	0	0	71	320
TAAR6	319100	broad.mit.edu	37	6	132891977	132891977	+	Missense_Mutation	SNP	T	T	C	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	ENST00000275198.1	+	1	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	173			Y -> C (in dbSNP:rs17061404). {ECO:0000269|PubMed:15329799}.		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)			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)		CACAGGTGTCTATGACGATGG	0.468													T|||	7	0.00139776	0.0	0.0029	5008	,	,		19505	0.0		0.003	False		,,,				2504	0.002					ENST00000275198.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(517-519)Tat>Cat		trace amine associated receptor 6		T	HIS/TYR	8,4398	14.3+/-33.2	0,8,2195	199.0	200.0	199.0		517	1.4	0.0	6	dbSNP_127	199	35,8565	24.0+/-70.4	0,35,4265	yes	missense	TAAR6	NM_175067.1	83	0,43,6460	CC,CT,TT		0.407,0.1816,0.3306	benign	173/346	132891977	43,12963	2203	4300	6503	SO:0001583	missense	319100	314	121412	62				g.chr6:132891977T>C	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.517T>C	chr6.hg19:g.132891977T>C	ENSP00000275198:p.Tyr173His	0						p.Y173H	NM_175067.1	NP_778237.1	0	0	0	1.973144	Q96RI8	TAAR6_HUMAN		1	517	+	Breast(56;0.112)		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	1	0	hg19	c.517T>C	CCDS5155.1	1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	11.58	1.679701	0.29783	0.001816	0.00407	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.72505	-0.66	5.11	1.35	0.21983	5.11	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.286909	0.20600	N	0.089177	T	0.21227	0.0511	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.19224	-1.0312	10	0.27082	T	0.32	-2.0739	1.253	0.01986	0.4799:0.179:0.1013:0.2398	rs41298397	173	Q96RI8	TAAR6_HUMAN	H	173;156	ENSP00000275198:Y173H	ENSP00000275198:Y173H	Y	+	1	0	0	TAAR6	132933670	132933670	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.098000	0.11024	0.076000	0.16826	0.528000	0.53228	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	0	0	1		2	2	2	0		0	0	210		210	207	1	2.060000	-2.438358	0	0.170000	NM_175067			205	203		821	811	1		1			0	0	210	0		1	0	0	0	0	0	0	205	821
TAAR6	319100	broad.mit.edu	37	6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	217					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)			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)		GATAATTCTGTATGGTAACAT	0.383																																						ENST00000275198.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(649-651)Tat>Cat		trace amine associated receptor 6							73.0	74.0	74.0					6																	132892109		2203	4300	6503	SO:0001583	missense	319100	1	121404	34				g.chr6:132892109T>C	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.649T>C	chr6.hg19:g.132892109T>C	ENSP00000275198:p.Tyr217His	0						p.Y217H	NM_175067.1	NP_778237.1	0	0	0	1.973144	Q96RI8	TAAR6_HUMAN		1	649	+	Breast(56;0.112)		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	1	1	hg19	c.649T>C	CCDS5155.1	1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650421	0.47362	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.60424	0.19	5.11	5.11	0.69529	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.78310	0.4263	H	0.94582	3.555	0.42362	D	0.992412	D	0.53151	0.958	D	0.65987	0.94	D	0.85036	0.0920	10	0.87932	D	0	-12.3275	15.0602	0.71947	0.0:0.0:0.0:1.0	.	217	Q96RI8	TAAR6_HUMAN	H	217;200	ENSP00000275198:Y217H	ENSP00000275198:Y217H	Y	+	1	0	0	TAAR6	132933802	132933802	1.000000	0.71417	0.015000	0.15790	0.228000	0.25075	4.912000	0.63335	2.132000	0.65825	0.528000	0.53228	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_175067			63	64		252	252	1		1			0	0	58	0		1	0	0	0	0	0	0	63	252
TAAR5	9038	broad.mit.edu	37	6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	317					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468																																						ENST00000258034.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(949-951)aAa>aCa		trace amine associated receptor 5							106.0	101.0	103.0					6																	132909876		2203	4300	6503	SO:0001583	missense	9038	0	0					g.chr6:132909876T>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.950A>C	chr6.hg19:g.132909876T>G	ENSP00000258034:p.Lys317Thr	0						p.K317T	NM_003967.2	NP_003958.2	0	0	0	1.973144	O14804	TAAR5_HUMAN		1	1001	-	Breast(56;0.112)		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	1	1	hg19	c.950A>C	CCDS5156.1	1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661767	0.29515	.	.	ENSG00000135569	ENST00000258034	T	0.42131	0.98	5.47	3.01	0.34805	5.47	3.01	0.34805	.	0.075082	0.52532	D	0.000079	T	0.56863	0.2014	M	0.88512	2.96	0.38733	D	0.953723	D	0.71674	0.998	D	0.69479	0.964	T	0.66126	-0.6001	10	0.87932	D	0	-5.2115	11.3667	0.49677	0.0:0.0:0.2901:0.7099	.	317	O14804	TAAR5_HUMAN	T	317	ENSP00000258034:K317T	ENSP00000258034:K317T	K	-	2	0	0	TAAR5	132951569	132951569	0.001000	0.12720	0.981000	0.43875	0.025000	0.11179	0.066000	0.14489	0.472000	0.27344	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_003967			70	69		238	234	1		1			0	0	56	0		1	0	0	0	0	0	0	70	238
TAAR5	9038	broad.mit.edu	37	6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	134					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGATGGCACAGTGGCGGTCA	0.577																																						ENST00000258034.2	0.550000	0.180000	4.500000e-01	2.500000e-01	0.340000	0.356141	0.340000	0.330000																										0				32						c.(400-402)Tgt>Ggt		trace amine associated receptor 5							99.0	106.0	104.0					6																	132910426		2203	4300	6503	SO:0001583	missense	9038	0	0					g.chr6:132910426A>C	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.400T>G	chr6.hg19:g.132910426A>C	ENSP00000258034:p.Cys134Gly	0						p.C134G	NM_003967.2	NP_003958.2	0	0	0	1.973144	O14804	TAAR5_HUMAN		1	451	-	Breast(56;0.112)		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	1	1	hg19	c.400T>G	CCDS5156.1	0	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506179	0.12883	.	.	ENSG00000135569	ENST00000258034	T	0.37411	1.2	5.58	1.58	0.23477	5.58	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.076401	0.56097	D	0.000036	T	0.25606	0.0623	L	0.58583	1.82	0.20307	N	0.999915	P	0.38978	0.652	P	0.47915	0.561	T	0.10109	-1.0644	10	0.41790	T	0.15	-3.3848	10.982	0.47499	0.6456:0.0:0.0:0.3544	.	134	O14804	TAAR5_HUMAN	G	134	ENSP00000258034:C134G	ENSP00000258034:C134G	C	-	1	0	0	TAAR5	132952119	132952119	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	0.001000	0.13038	0.506000	0.28125	0.533000	0.62120	TGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	0	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-11.610360	1	0.170000	NM_003967			12	12		405	395	0		1			0	0	88	0		9.990074e-01	0	0	0	0	0	0	12	405
TAAR2	9287	broad.mit.edu	37	6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000367931.1	-	2	186	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000275191.2_Missense_Mutation_p.A18T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	63					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(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423																																						ENST00000367931.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(187-189)Gcc>Acc		trace amine associated receptor 2							112.0	107.0	108.0					6																	132939158		2203	4300	6503	SO:0001583	missense	9287	0	0					g.chr6:132939158C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.187G>A	chr6.hg19:g.132939158C>T	ENSP00000356908:p.Ala63Thr	0					TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000275191.2_Missense_Mutation_p.A18T	p.A63T			0	0	0	1.973144	Q9P1P5	TAAR2_HUMAN		2	186	-	Breast(56;0.135)		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	1	1	hg19	c.187G>A	CCDS34541.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398649	0.42512	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.81	0.43845	5.7	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.422419	0.24506	N	0.037938	T	0.34077	0.0885	N	0.21545	0.675	0.24232	N	0.995398	B	0.17465	0.022	B	0.20955	0.032	T	0.28004	-1.0057	10	0.66056	D	0.02	-11.0516	6.0328	0.19688	0.129:0.6458:0.0:0.2252	.	63	Q9P1P5	TAAR2_HUMAN	T	18;63;18	ENSP00000275191:A18T;ENSP00000356908:A63T;ENSP00000441263:A18T	ENSP00000275191:A18T	A	-	1	0	0	TAAR2	132980851	132980851	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.038000	0.12144	0.769000	0.33313	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	0	0	1		18	2	2	0		0	1	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_014626			92	92		362	353	1		1			0	0	82	0		1	0	0	0	0	0	0	92	362
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103					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.D103N(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)	AGCATAATGTCGGTGCTTGTG	0.438																																						ENST00000275216.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D103N(1)	large_intestine(1)	18						c.(307-309)Gac>Aac		trace amine associated receptor 1	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)						86.0	82.0	83.0					6																	132966836		2203	4299	6502	SO:0001583	missense	134864	1	121404	28				g.chr6:132966836C>T	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.307G>A	chr6.hg19:g.132966836C>T	ENSP00000275216:p.Asp103Asn	0						p.D103N	NM_138327.1	NP_612200.1	0	0	0	1.973144	Q96RJ0	TAAR1_HUMAN		1	306	-	Breast(56;0.135)		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	1	1	hg19	c.307G>A	CCDS5158.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	0	TAAR1	133008529	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_138327			51	51		260	253	1		1	0		0	0	60	0		1	0	0	0	0	1	0	51	260
TBC1D7	51256	broad.mit.edu	37	6	13316855	13316855	+	Missense_Mutation	SNP	C	C	T	rs549062038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13316855C>T	ENST00000379300.3	-	5	710	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TBC1D7_ENST00000607658.1_Missense_Mutation_p.R129Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	156	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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)			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)			CACAAAGCGTCGGGTGATCCA	0.428																																						ENST00000379300.3	0.730000	0.420000	6.600000e-01	4.900000e-01	0.560000	0.578391	0.560000	0.570000																										0				22						c.(466-468)cGa>cAa		TBC1 domain family, member 7							189.0	198.0	195.0					6																	13316855		2203	4300	6503	SO:0001583	missense	51256	3	121412	42				g.chr6:13316855C>T	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.467G>A	chr6.hg19:g.13316855C>T	ENSP00000368602:p.Arg156Gln	0					TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R129Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q	p.R156Q	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	0	0	0	1.967613	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)	5	710	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	1	1	hg19	c.467G>A	CCDS4523.1	0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211334	0.79240	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109	T;T;T;T;T;T;T;T;T;T	0.33438	1.54;2.8;2.8;2.8;2.8;2.8;2.8;2.8;1.54;1.41	5.92	5.05	0.67936	5.92	5.05	0.67936	Rab-GAP/TBC domain (2);	0.156362	0.56097	D	0.000034	T	0.19005	0.0456	M	0.62723	1.935	0.80722	D	1	P;P;P	0.48230	0.873;0.792;0.907	B;B;B	0.40782	0.34;0.156;0.217	T	0.02713	-1.1120	10	0.28530	T	0.3	-2.6382	14.2193	0.65815	0.0:0.929:0.0:0.071	.	129;129;156	Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;TBCD7_HUMAN	Q	97;156;156;156;129;129;129;156;129;129;156	ENSP00000401438:R156Q;ENSP00000348813:R156Q;ENSP00000368602:R156Q;ENSP00000368609:R129Q;ENSP00000414292:R129Q;ENSP00000404680:R129Q;ENSP00000394425:R156Q;ENSP00000417005:R129Q;ENSP00000412102:R129Q;ENSP00000414101:R156Q	ENSP00000334212:R97Q	R	-	2	0	0	TBC1D7	13424834	13424834	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	3.062000	0.49971	1.528000	0.49103	0.650000	0.86243	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	0	0	1		18	4	2	1		1	1	185		185	182	1	2.060000	-5.574635	1	0.170000	NM_016495			47	47		907	884	0		1	1		1	0	185	0		9.999115e-01	7.814789e-01	0	6	0	102	0	47	907
GFOD1	54438	broad.mit.edu	37	6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	324						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672																																						ENST00000379287.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(970-972)cGc>cAc		glucose-fructose oxidoreductase domain containing 1							44.0	44.0	44.0					6																	13365177		2203	4299	6502	SO:0001583	missense	54438	0	0					g.chr6:13365177C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.971G>A	chr6.hg19:g.13365177C>T	ENSP00000368589:p.Arg324His	0					GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	p.R324H	NM_018988.3	NP_061861.1	0	0	0	1.967613	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)	2	1635	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	1	1	hg19	c.971G>A	CCDS4524.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.427283	0.96131	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.48836	1.41;0.8	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.40739	-0.9547	10	0.23891	T	0.37	-11.6292	18.5979	0.91235	0.0:1.0:0.0:0.0	.	324	Q9NXC2	GFOD1_HUMAN	H	324;221	ENSP00000368589:R324H;ENSP00000368586:R221H	ENSP00000368586:R221H	R	-	2	0	0	GFOD1	13473156	13473156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-4.382429	1	0.170000	NM_018988			83	80		281	277	1		1	0		0	0	50	0		1	7.029388e-01	0	1	0	9	0	83	281
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					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.R459H(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)		ACTAAACAAGCGTCCGTCAGT	0.398																																						ENST00000367928.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R459H(1)	lung(1)	31						c.(1375-1377)cGc>cAc		vanin 1							99.0	91.0	94.0					6																	133004445		2203	4300	6503	SO:0001583	missense	8876	2	121406	30				g.chr6:133004445C>T	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.1376G>A	chr6.hg19:g.133004445C>T	ENSP00000356905:p.Arg459His	0						p.R459H	NM_004666.2	NP_004657.2	0	0	0	1.973144	O95497	VNN1_HUMAN		7	1389	-	Breast(56;0.135)		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	1	1	hg19	c.1376G>A	CCDS5159.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866004	0.51588	.	.	ENSG00000112299	ENST00000367928	D	0.93247	-3.19	5.86	4.99	0.66335	5.86	4.99	0.66335	.	0.074910	0.64402	D	0.000020	D	0.88596	0.6479	M	0.85630	2.765	0.46396	D	0.999022	P	0.42993	0.797	B	0.34779	0.189	D	0.88288	0.2941	10	0.15952	T	0.53	-14.1688	14.725	0.69339	0.0:0.931:0.0:0.069	.	459	O95497	VNN1_HUMAN	H	459	ENSP00000356905:R459H	ENSP00000356905:R459H	R	-	2	0	0	VNN1	133046138	133046138	0.939000	0.31865	0.653000	0.29593	0.862000	0.49288	2.266000	0.43320	1.484000	0.48361	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				44	44		150	149	1		1	1		0	0	42	0		1	1	0	422	0	228	0	44	150
EYA4	2070	broad.mit.edu	37	6	133836487	133836487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000367895.5	+	17	1994	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	EYA4_ENST00000355286.6_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000355167.3_Silent_p.A510A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	510					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)			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)		AGAGGGATGCCTGGCTACAGT	0.428																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1528-1530)gcC>gcT		EYA transcriptional coactivator and phosphatase 4							162.0	155.0	157.0					6																	133836487		2203	4300	6503	SO:0001819	synonymous_variant	2070	0	0					g.chr6:133836487C>T	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.1530C>T	chr6.hg19:g.133836487C>T		0					EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000531901.1_Silent_p.A516A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000431403.2_Silent_p.A510A	p.A510A	NM_004100.4	NP_004091.3	0	0	0	1.973144	O95677	EYA4_HUMAN		17	1994	+	Colorectal(23;0.221)		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	1	1	hg19	c.1530C>T	CCDS5165.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	1	0	1		2	2	2	0		0	0	148		148	145	1	2.060000	-20.000000	1	0.170000	NM_004100			95	93		417	412	1		1	0		0	0	148	0		1	0	0	0	0	1	0	95	417
EYA4	2070	broad.mit.edu	37	6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000367895.5	+	18	2185	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C	EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	574					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)			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)		GAGAATATTTACAGTGCAACT	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1720-1722)tAc>tGc		EYA transcriptional coactivator and phosphatase 4							117.0	117.0	117.0					6																	133844298		2203	4300	6503	SO:0001583	missense	2070	0	0					g.chr6:133844298A>G	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.1721A>G	chr6.hg19:g.133844298A>G	ENSP00000356870:p.Tyr574Cys	0					EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C	p.Y574C	NM_004100.4	NP_004091.3	0	0	0	1.973144	O95677	EYA4_HUMAN		18	2185	+	Colorectal(23;0.221)		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	1	1	hg19	c.1721A>G	CCDS5165.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390054	0.82902	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.19;-4.31;-4.43;-4.27;-4.43;-4.43;-4.43	6.16	6.16	0.99307	6.16	6.16	0.99307	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87547	2.89	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	0.99741	1.1015	10	0.87932	D	0	-11.9122	16.8061	0.85666	1.0:0.0:0.0:0.0	.	580;526;520;551;574;574	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	520;526;574;574;551;580;551;574	ENSP00000395916:Y520C;ENSP00000388670:Y526C;ENSP00000356870:Y574C;ENSP00000347294:Y574C;ENSP00000347434:Y551C;ENSP00000432770:Y580C;ENSP00000433219:Y551C;ENSP00000404558:Y574C	ENSP00000347294:Y574C	Y	+	2	0	0	EYA4	133885991	133885991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_004100			104	103		462	455	1		1			0	0	88	0		1	0	0	0	0	0	0	104	462
SLC2A12	154091	broad.mit.edu	37	6	134350298	134350298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134350298C>T	ENST00000275230.5	-	2	820	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	222					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)			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)		CACCAGAAACCGAGGGCTTGG	0.448																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5	0.380000	0.090000	3.000000e-01	1.400000e-01	0.210000	0.226788	0.210000	0.200000																										0				17						c.(664-666)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 12							76.0	78.0	78.0					6																	134350298		2203	4300	6503	SO:0001583	missense	154091	2	121410	32				g.chr6:134350298C>T	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.665G>A	chr6.hg19:g.134350298C>T	ENSP00000275230:p.Arg222Gln	0						p.R222Q	NM_145176.2	NP_660159.1	0	0	0	1.973144	Q8TD20	GTR12_HUMAN		2	820	-	Breast(56;0.214)|Colorectal(23;0.221)		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	0	1	hg19	c.665G>A	CCDS5169.1	0	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720699	0.89205	.	.	ENSG00000146411	ENST00000275230	T	0.79653	-1.29	5.4	5.4	0.78164	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93615	0.6942	10	0.87932	D	0	-14.6014	19.174	0.93594	0.0:1.0:0.0:0.0	.	222	Q8TD20	GTR12_HUMAN	Q	222	ENSP00000275230:R222Q	ENSP00000275230:R222Q	R	-	2	0	0	SLC2A12	134391991	134391991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.542000	0.85734	0.467000	0.42956	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1	0	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-2.668974	1	0.170000				8	8		446	434	0		1	0		0	0	115	0		9.882878e-01	2.509103e-03	0	1	0	3	0	8	446
SGK1	6446	broad.mit.edu	37	6	134583014	134583014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134583014A>C	ENST00000524929.1	-	2	510	c.342T>G	c.(340-342)ttT>ttG	p.F114L	SGK1_ENST00000367858.5_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	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)			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)		AAATACAAGAAAAACAAAGGC	0.368																																						ENST00000524929.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(340-342)ttT>ttG		serum/glucocorticoid regulated kinase 1																																				SO:0001583	missense	6446	0	0					g.chr6:134583014A>C	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	ENST00000524929.1:c.342T>G	chr6.hg19:g.134583014A>C	ENSP00000435724:p.Phe114Leu	0					SGK1_ENST00000367858.5_Intron	p.F114L			0	0	0	1.973144	O00141	SGK1_HUMAN		2	510	-	Colorectal(23;0.221)		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000524929.1	0	1	hg19	c.342T>G		1	.	.	.	.	.	.	.	.	.	.	A	9.863	1.196860	0.22037	.	.	ENSG00000118515	ENST00000524929	.	.	.	5.23	4.08	0.47627	5.23	4.08	0.47627	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.22208	-1.0223	7	0.87932	D	0	.	4.4911	0.11813	0.7393:0.0:0.0899:0.1708	.	114	Q7Z3I4	.	L	114	.	ENSP00000435724:F114L	F	-	3	2	2	SGK1	134624707	134624707	0.018000	0.18449	0.024000	0.17045	0.323000	0.28346	0.665000	0.25083	1.011000	0.39340	0.460000	0.39030	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SGK1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000042305.2	0	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000				43	38		130	129	0		1			0	0	28	0		1	0	0	0	0	0	0	43	130
ALDH8A1	64577	broad.mit.edu	37	6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	rs533886052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.001					ENST00000265605.2	0.580000	0.160000	4.600000e-01	2.400000e-01	0.330000	0.356198	0.330000	0.320000																										1	Substitution - Missense(1)	p.T140M(1)	NS(1)	36						c.(418-420)aCg>aTg		aldehyde dehydrogenase 8 family, member A1							86.0	80.0	82.0					6																	135263570		2203	4300	6503	SO:0001583	missense	64577	3	121412	33				g.chr6:135263570G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.419C>T	chr6.hg19:g.135263570G>A	ENSP00000265605:p.Thr140Met	0					RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	p.T140M	NM_022568.3	NP_072090.1	0	0	0	1.973144	Q9H2A2	AL8A1_HUMAN		3	487	-	Colorectal(23;0.221)		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	1	1	hg19	c.419C>T	CCDS5171.1	0	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	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	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	0	ALDH8A1	135305263	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.383509	1	0.170000				9	9		310	305	0		1			0	0	69	0		9.939693e-01	0	0	0	0	0	0	9	310
HBS1L	10767	broad.mit.edu	37	6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	640					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328																																						ENST00000367837.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1918-1920)Aat>Cat		HBS1-like translational GTPase							114.0	112.0	112.0					6																	135287592		2203	4300	6503	SO:0001583	missense	10767	0	0					g.chr6:135287592T>G	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1918A>C	chr6.hg19:g.135287592T>G	ENSP00000356811:p.Asn640His	0					HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	p.N640H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	0	0	0	1.973144	Q9Y450	HBS1L_HUMAN		17	2124	-	Colorectal(23;0.221)		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	1	1	hg19	c.1918A>C	CCDS5173.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476985	0.84640	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.13;-0.12;-0.13;0.9	5.96	5.96	0.96718	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.76615	-0.2894	10	0.66056	D	0.02	-32.104	16.4277	0.83824	0.0:0.0:0.0:1.0	.	598;640	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	H	640;476;575;598;476;510;364	ENSP00000356811:N640H;ENSP00000436256:N476H;ENSP00000389826:N575H;ENSP00000356800:N598H;ENSP00000356798:N476H;ENSP00000434533:N510H;ENSP00000415305:N364H	ENSP00000356798:N476H	N	-	1	0	0	HBS1L	135329285	135329285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000				91	88		404	400	1		1	1		0	0	101	0		1	1	0	48	0	80	0	91	404
HBS1L	10767	broad.mit.edu	37	6	135306532	135306532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135306532G>T	ENST00000367837.5	-	12	1645	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	480	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGATCGCTGGGGAGGCTTAAA	0.353																																						ENST00000367837.5	0.580000	0.250000	4.900000e-01	3.200000e-01	0.390000	0.410514	0.390000	0.390000																										0				20						c.(1438-1440)cCc>cAc		HBS1-like translational GTPase							138.0	142.0	141.0					6																	135306532		2203	4300	6503	SO:0001583	missense	10767	0	0					g.chr6:135306532G>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1439C>A	chr6.hg19:g.135306532G>T	ENSP00000356811:p.Pro480His	0					HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H	p.P480H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	0	0	0	1.973144	Q9Y450	HBS1L_HUMAN		12	1645	-	Colorectal(23;0.221)		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	1	1	hg19	c.1439C>A	CCDS5173.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776545|4.776545	0.90195|0.90195	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176|ENST00000529169	T;T;T;T;T;T;T|T	0.53423|0.52526	0.62;0.62;0.62;0.62;0.62;0.62;0.62|0.66	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77980|0.77980	0.4212|0.4212	H|H	0.96111|0.96111	3.77|3.77	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	0.84490|0.84490	0.0610|0.0610	10|8	0.87932|0.87932	D|D	0|0	-26.0245|-26.0245	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438;480|.	Q9Y450-4;Q9Y450|.	.;HBS1L_HUMAN|.	H|T	480;316;415;438;316;350;204|104	ENSP00000356811:P480H;ENSP00000436256:P316H;ENSP00000389826:P415H;ENSP00000356800:P438H;ENSP00000356798:P316H;ENSP00000434533:P350H;ENSP00000415305:P204H|ENSP00000436472:P104T	ENSP00000356798:P316H|ENSP00000436472:P104T	P|P	-|-	2|1	0|0	0|0	HBS1L|HBS1L	135348225|135348225	135348225|135348225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.190000|7.190000	0.77755|0.77755	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	CCC|CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	0	0	1		17	6	2	1		1	1	133		133	133	1	2.060000	-3.071031	1	0.170000				22	22		622	608	0		1	1		1	0	133	0		8.161328e-01	3.237458e-01	0	9	0	121	0	22	622
HBS1L	10767	broad.mit.edu	37	6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	294	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388																																						ENST00000367837.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(880-882)aAg>aTg		HBS1-like translational GTPase							186.0	181.0	183.0					6																	135317999		2203	4300	6503	SO:0001583	missense	10767	0	0					g.chr6:135317999T>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.881A>T	chr6.hg19:g.135317999T>A	ENSP00000356811:p.Lys294Met	0					HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M	p.K294M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	0	0	0	1.973144	Q9Y450	HBS1L_HUMAN		7	1087	-	Colorectal(23;0.221)		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	1	1	hg19	c.881A>T	CCDS5173.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.111168	0.94339	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90160	0.4227	10	0.87932	D	0	-23.4431	16.4288	0.83833	0.0:0.0:0.0:1.0	.	252;294	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	294;130;229;252;130;164;18;130;130	ENSP00000356811:K294M;ENSP00000436256:K130M;ENSP00000389826:K229M;ENSP00000356800:K252M;ENSP00000356798:K130M;ENSP00000434533:K164M;ENSP00000415305:K18M;ENSP00000436620:K130M;ENSP00000432092:K130M	ENSP00000356798:K130M	K	-	2	0	0	HBS1L	135359692	135359692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.282000	0.76494	0.533000	0.62120	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	1		2	2	2	0		0	0	157		157	157	1	2.060000	-20.000000	1	0.170000				171	169		666	653	1		1	1		0	0	157	0		1	9.999999e-01	0	27	0	64	0	171	666
AHI1	54806	broad.mit.edu	37	6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	617					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)				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)		CATTGTGGGAGAAATCAAGAC	0.378																																						ENST00000367800.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				37						c.(1849-1851)ttC>ttA		Abelson helper integration site 1							65.0	61.0	62.0					6																	135763781		1864	4102	5966	SO:0001583	missense	54806	0	0					g.chr6:135763781G>T	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.1851C>A	chr6.hg19:g.135763781G>T	ENSP00000356774:p.Phe617Leu	0					AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	p.F617L	NM_001134830.1	NP_001128302.1	0	0	0	1.973144	Q8N157	AHI1_HUMAN		12	2067	-	Breast(56;0.239)|Colorectal(23;0.24)		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	1	1	hg19	c.1851C>A	CCDS47483.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356206|4.356206	0.82243|0.82243	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.96|5.96	5.1|5.1	0.69264|0.69264	5.96|5.96	5.1|5.1	0.69264|0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.997;0.998;0.996|.	T|T	0.63184|0.63184	-0.6694|-0.6694	10|5	0.72032|.	D|.	0.01|.	-10.329|-10.329	14.8195|14.8195	0.70062|0.70062	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	617;617;617|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	L|Y	617|117	ENSP00000356774:F617L;ENSP00000388650:F617L;ENSP00000265602:F617L;ENSP00000322478:F617L|.	ENSP00000265602:F617L|.	F|S	-|-	3|2	2|0	2|0	AHI1|AHI1	135805474|135805474	135805474|135805474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.705000|3.705000	0.54823|0.54823	1.536000|1.536000	0.49237|0.49237	-0.136000|-0.136000	0.14681|0.14681	TTC|TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-14.302600	1	0.170000	NM_017651			16	16		50	49	1		1	1		0	0	23	0		9.999667e-01	9.921673e-01	0	7	0	22	0	16	50
AHI1	54806	broad.mit.edu	37	6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	rs139944375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329	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)				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)		CGGGCTATCTCGGCTTGTTAT	0.358																																						ENST00000367800.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(985-987)cGa>cAa		Abelson helper integration site 1							170.0	163.0	166.0					6																	135778797		1911	4114	6025	SO:0001583	missense	54806	25	120846	50				g.chr6:135778797C>T	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.986G>A	chr6.hg19:g.135778797C>T	ENSP00000356774:p.Arg329Gln	0					AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	p.R329Q	NM_001134830.1	NP_001128302.1	0	0	0	1.973144	Q8N157	AHI1_HUMAN		7	1202	-	Breast(56;0.239)|Colorectal(23;0.24)		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	1	1	hg19	c.986G>A	CCDS47483.1	1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801309	0.31869	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57752	0.43;0.43;0.43;0.38	5.5	-3.68	0.04463	5.5	-3.68	0.04463	.	1.206670	0.05757	N	0.604317	T	0.20292	0.0488	L	0.60455	1.87	0.24048	N	0.996058	B;B	0.20261	0.043;0.026	B;B	0.12837	0.008;0.002	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.1692	2.7604	0.05305	0.1077:0.226:0.1783:0.488	.	329;329	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	329	ENSP00000356774:R329Q;ENSP00000388650:R329Q;ENSP00000265602:R329Q;ENSP00000322478:R329Q	ENSP00000265602:R329Q	R	-	2	0	0	AHI1	135820490	135820490	0.693000	0.27728	0.826000	0.32828	0.433000	0.31745	-0.024000	0.12435	-0.422000	0.07405	0.460000	0.39030	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-3.325103	1	0.170000	NM_017651			95	93		418	410	1		1	1		0	0	115	0		1	9.743897e-01	0	5	0	23	0	95	418
PDE7B	27115	broad.mit.edu	37	6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	403	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612																																						ENST00000308191.6	1.000000	0.580000	1	7.800000e-01	0.990000	0.921738	0.990000	1.000000																										0				21						c.(1207-1209)Ctg>Atg		phosphodiesterase 7B	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)						55.0	46.0	49.0					6																	136512832		2203	4300	6503	SO:0001583	missense	27115	0	0					g.chr6:136512832C>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1207C>A	chr6.hg19:g.136512832C>A	ENSP00000310661:p.Leu403Met	0					RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	p.L403M	NM_018945.3	NP_061818.1	0	0	0	1.973144	Q9NP56	PDE7B_HUMAN		13	1510	+	Colorectal(23;0.24)		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	1	1	hg19	c.1207C>A	CCDS5175.1	1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951377	0.18431	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.79247	-1.25	5.17	4.28	0.50868	5.17	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.136413	0.50627	D	0.000107	T	0.64713	0.2623	N	0.25094	0.71	0.50467	D	0.999878	P;P	0.50617	0.937;0.669	B;P	0.54238	0.335;0.746	T	0.64198	-0.6464	10	0.31617	T	0.26	.	10.5121	0.44868	0.0:0.8508:0.0:0.1492	.	455;403	A1E5M1;Q9NP56	.;PDE7B_HUMAN	M	403;539	ENSP00000310661:L403M	ENSP00000310661:L403M	L	+	1	2	2	PDE7B	136554525	136554525	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	0.687000	0.25407	2.569000	0.86673	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-17.879220	1	0.170000				12	11		122	121	0		1	0		0	0	23	0		9.991887e-01	7.822020e-02	0	0	0	5	0	12	122
BCLAF1	9774	broad.mit.edu	37	6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	727					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)			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)		GTAATCTTTTGGAGTTTTTTC	0.383																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1	0.870000	0.380000	7.400000e-01	4.800000e-01	0.600000	0.615532	0.600000	0.600000																										0				9						c.(2179-2181)cCa>cTa		BCL2-associated transcription factor 1							110.0	105.0	107.0					6																	136590614		2203	4299	6502	SO:0001583	missense	9774	31	121404	34				g.chr6:136590614G>A	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.2180C>T	chr6.hg19:g.136590614G>A	ENSP00000435210:p.Pro727Leu	0					BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000529917.1_5'UTR	p.P727L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	0	0	0	1.973144	Q9NYF8	BCLF1_HUMAN		9	2432	-	Colorectal(23;0.24)		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	1	1	hg19	c.2180C>T	CCDS5177.1	0	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814670	0.32053	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14640	4.35;4.35;4.35;2.49;4.35;4.35	4.82	3.89	0.44902	4.82	3.89	0.44902	.	0.582086	0.15264	N	0.271612	T	0.04543	0.0124	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.027;0.062;0.027;0.004	B;B;B;B	0.16289	0.006;0.015;0.006;0.006	T	0.16988	-1.0384	10	0.56958	D	0.05	0.3182	12.8904	0.58068	0.0:0.0:0.7217:0.2783	.	725;725;727;554	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	727;725;727;554;725;725	ENSP00000435210:P727L;ENSP00000229446:P725L;ENSP00000435441:P727L;ENSP00000436501:P554L;ENSP00000434826:P725L;ENSP00000376159:P725L	ENSP00000229446:P725L	P	-	2	0	0	BCLAF1	136632307	136632307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.393000	0.81446	0.591000	0.81541	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	1		2	2	2	0		0	0	82		82	78	1	2.060000	-2.541387	1	0.170000	NM_014739			21	19		387	366	0		1	0		0	0	82	0		9.999959e-01	9.990834e-01	0	0	0	206	0	21	387
BCLAF1	9774	broad.mit.edu	37	6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000529917.1_5'Flank	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	675					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)			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)		TCTTCTTTAAAAACTCTCTCT	0.303																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.995206	0.990000	1.000000																										0				9						c.(2023-2025)Ttt>Gtt		BCL2-associated transcription factor 1							77.0	78.0	78.0					6																	136593153		2203	4296	6499	SO:0001583	missense	9774	0	0					g.chr6:136593153A>C	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.2023T>G	chr6.hg19:g.136593153A>C	ENSP00000435210:p.Phe675Val	0					BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000529917.1_5'Flank	p.F675V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	0	0	0	1.973144	Q9NYF8	BCLF1_HUMAN		8	2275	-	Colorectal(23;0.24)		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	1	1	hg19	c.2023T>G	CCDS5177.1	1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280241	0.59758	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000006	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P;B;P;B	0.34587	0.458;0.264;0.458;0.244	B;B;B;B	0.39119	0.291;0.069;0.291;0.056	T	0.42982	-0.9419	10	0.11794	T	0.64	-9.1069	10.344	0.43895	0.8534:0.0:0.0:0.1466	.	673;673;675;502	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	675;673;675;502;673;673;674	ENSP00000435210:F675V;ENSP00000229446:F673V;ENSP00000435441:F675V;ENSP00000436501:F502V;ENSP00000434826:F673V;ENSP00000376159:F673V;ENSP00000431734:F674V	ENSP00000229446:F673V	F	-	1	0	0	BCLAF1	136634846	136634846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.025000	0.59659	0.482000	0.46254	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_014739			39	39		320	286	1		1	1		0	0	54	0		1	1	0	41	0	222	0	39	320
BCLAF1	9774	broad.mit.edu	37	6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T	rs369285091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	429					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)			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)		CTCAGTATTCCGGTGAGATGC	0.403																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1	1.000000	0.850000	1	9.300000e-01	0.990000	0.977044	0.990000	1.000000																										0				9						c.(1285-1287)cGg>cAg		BCL2-associated transcription factor 1		C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	211.0	207.0	209.0		1280,,1286	5.2	1.0	6		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,,probably-damaging	427/870,,429/921	136597377	2,13004	2203	4300	6503	SO:0001583	missense	9774	5	121412	47				g.chr6:136597377C>T	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.1286G>A	chr6.hg19:g.136597377C>T	ENSP00000435210:p.Arg429Gln	0					BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	p.R429Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	0	0	0	1.973144	Q9NYF8	BCLF1_HUMAN		5	1538	-	Colorectal(23;0.24)		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	1	1	hg19	c.1286G>A	CCDS5177.1	1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649123	0.47362	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000027	T	0.03305	0.0096	N	0.08118	0	0.44079	D	0.996831	P;P;P	0.44578	0.838;0.838;0.838	B;B;B	0.31614	0.133;0.133;0.133	T	0.44019	-0.9355	10	0.41790	T	0.15	-4.7974	19.2213	0.93797	0.0:1.0:0.0:0.0	.	427;427;429	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Q	429;427;429;427;427;429	ENSP00000435210:R429Q;ENSP00000229446:R427Q;ENSP00000435441:R429Q;ENSP00000434826:R427Q;ENSP00000376159:R427Q;ENSP00000431734:R429Q	ENSP00000229446:R427Q	R	-	2	0	0	BCLAF1	136639070	136639070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.194000	0.58393	2.615000	0.88500	0.650000	0.86243	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	1		2	2	2	0		0	0	255		255	254	1	2.060000	-2.841672	1	0.170000	NM_014739			117	114		1208	1170	0		1	0		0	0	255	0		1	9.999959e-01	0	0	0	174	0	117	1208
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L	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	268					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.S268L(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)		TCGATCCATCGAATTTCTAGA	0.512																																						ENST00000354570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S268L(1)	large_intestine(1)	33						c.(802-804)tCg>tTg		microtubule-associated protein 7							206.0	180.0	189.0					6																	136693712		2203	4300	6503	SO:0001583	missense	9053	0	0					g.chr6:136693712G>A	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.803C>T	chr6.hg19:g.136693712G>A	ENSP00000346581:p.Ser268Leu	0					MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L	p.S268L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	0	0	0	1.973144	Q14244	MAP7_HUMAN		8	1213	-	Colorectal(23;0.24)		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	1	1	hg19	c.803C>T	CCDS5178.1	1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	0	MAP7	136735405	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_003980			65	65		264	259	1		1	1		0	0	76	0		1	9.999922e-01	0	25	0	48	0	65	264
MAP7	9053	broad.mit.edu	37	6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000438100.2_Intron|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000432797.2_Missense_Mutation_p.N40S	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	186					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)			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)		TTTCGAAAGATTCATGGTGGA	0.413																																						ENST00000354570.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(556-558)aAt>aGt		microtubule-associated protein 7							119.0	114.0	116.0					6																	136704889		2203	4300	6503	SO:0001583	missense	9053	0	0					g.chr6:136704889T>C	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.557A>G	chr6.hg19:g.136704889T>C	ENSP00000346581:p.Asn186Ser	0					MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000438100.2_Intron|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S	p.N186S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	0	0	0	1.973144	Q14244	MAP7_HUMAN		6	967	-	Colorectal(23;0.24)		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	1	1	hg19	c.557A>G	CCDS5178.1	1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286674	0.59867	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000008	T	0.17408	0.0418	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.985;0.996;0.991	T	0.03863	-1.0997	10	0.22706	T	0.39	-20.3185	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;171;208;208;92;186	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	S	186;208;171;40;92	ENSP00000346581:N186S;ENSP00000414712:N208S;ENSP00000445737:N171S;ENSP00000414879:N40S	ENSP00000344217:N92S	N	-	2	0	0	MAP7	136746582	136746582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_003980			72	72		286	283	1		1	1		0	0	55	0		1	9.998437e-01	0	23	0	31	0	72	286
PEX7	5191	broad.mit.edu	37	6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000318471.4	+	7	772	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	231					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363																																						ENST00000318471.4	1.000000	0.760000	1	8.400000e-01	0.930000	0.927224	0.930000	1.000000																										0				8						c.(691-693)Gta>Ata		peroxisomal biogenesis factor 7							248.0	249.0	249.0					6																	137191085		2203	4300	6503	SO:0001583	missense	5191	0	0					g.chr6:137191085G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.691G>A	chr6.hg19:g.137191085G>A	ENSP00000315680:p.Val231Ile	0					PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	p.V231I	NM_000288.3	NP_000279.1	0	0	0	1.973144	O00628	PEX7_HUMAN		7	772	+	Colorectal(23;0.24)		C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	1	1	hg19	c.691G>A	CCDS5180.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274149	0.23221	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.81078	-1.45;-1.45	5.84	3.74	0.42951	5.84	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.393088	0.27807	N	0.017771	T	0.47229	0.1434	N	0.20401	0.57	0.31429	N	0.673373	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.22109	T	0.4	-31.2596	10.1468	0.42769	0.2279:0.0:0.7721:0.0	.	231	O00628	PEX7_HUMAN	I	231	ENSP00000441004:V231I;ENSP00000315680:V231I	ENSP00000315680:V231I	V	+	1	0	0	PEX7	137232778	137232778	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.641000	0.37197	1.456000	0.47831	0.591000	0.81541	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	0	0	1		2	2	2	0		0	0	267		267	264	1	2.060000	-19.977770	1	0.170000	NM_000288			101	98		1151	1119	1		1	1		0	0	267	0		1	9.956947e-01	0	19	0	74	0	101	1151
PEX7	5191	broad.mit.edu	37	6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A	rs185417185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	320					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358																																						ENST00000318471.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(958-960)aCt>aAt		peroxisomal biogenesis factor 7							244.0	230.0	234.0					6																	137234651		2203	4300	6503	SO:0001583	missense	5191	0	0					g.chr6:137234651C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.959C>A	chr6.hg19:g.137234651C>A	ENSP00000315680:p.Thr320Asn	0					PEX7_ENST00000541292.1_3'UTR	p.T320N	NM_000288.3	NP_000279.1	0	0	0	1.973144	O00628	PEX7_HUMAN		10	1040	+	Colorectal(23;0.24)		C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	1	1	hg19	c.959C>A	CCDS5180.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.607	0.112873	0.08831	.	.	ENSG00000112357	ENST00000318471	T	0.64085	-0.08	5.34	2.13	0.27403	5.34	2.13	0.27403	WD40-repeat-containing domain (1);	0.610740	0.18092	N	0.151942	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19582	-1.0301	10	0.25751	T	0.34	-22.7369	8.2003	0.31421	0.0:0.607:0.3023:0.0907	.	320	O00628	PEX7_HUMAN	N	320	ENSP00000315680:T320N	ENSP00000315680:T320N	T	+	2	0	0	PEX7	137276344	137276344	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.710000	0.25748	1.223000	0.43536	-0.499000	0.04595	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000	NM_000288			130	130		565	556	1		1	1		0	0	133	0		1	9.999997e-01	0	30	0	63	0	130	565
IL20RA	53832	broad.mit.edu	37	6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000316649.5	-	5	938	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	235	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)		CTGGCACACTGCTTCTCAGAA	0.517																																						ENST00000316649.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(703-705)Cag>Tag		interleukin 20 receptor, alpha							94.0	94.0	94.0					6																	137329757		2203	4300	6503	SO:0001587	stop_gained	53832	0	0					g.chr6:137329757G>A	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.703C>T	chr6.hg19:g.137329757G>A	ENSP00000314976:p.Gln235*	0					IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*	p.Q235*	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	0	0	0	1.973144	Q9UHF4	I20RA_HUMAN		5	938	-	Colorectal(23;0.24)		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Nonsense_Mutation	SNP	ENST00000316649.5	0	1	hg19	c.703C>T	CCDS5181.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.882033	0.98988	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.536313	0.20891	N	0.083840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5671	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	235;124;186	.	ENSP00000314976:Q235X	Q	-	1	0	0	IL20RA	137371450	137371450	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.230000	0.32612	2.751000	0.94390	0.650000	0.86243	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_014432			130	128		524	515	0		1	1		0	0	142	0		1	9.995844e-01	0	22	0	26	0	130	524
IFNGR1	3459	broad.mit.edu	37	6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413																																						ENST00000367739.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1210-1212)gAg>gGg		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						78.0	78.0	78.0					6																	137519427		2203	4300	6503	SO:0001583	missense	3459	0	0					g.chr6:137519427T>C		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.1211A>G	chr6.hg19:g.137519427T>C	ENSP00000356713:p.Glu404Gly	0					IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	p.E404G	NM_000416.2	NP_000407.1	0	0	0	1.973144	P15260	INGR1_HUMAN		7	1332	-	Colorectal(23;0.24)		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	1	1	hg19	c.1211A>G	CCDS5185.1	1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111371	0.56398	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72167	-0.63;-0.48	5.99	4.84	0.62591	5.99	4.84	0.62591	.	1.612290	0.03414	N	0.205248	T	0.37100	0.0991	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.15484	0.013;0.006	T	0.34527	-0.9825	10	0.51188	T	0.08	.	8.0449	0.30542	0.0:0.0881:0.0:0.9119	.	376;404	F5H5M7;P15260	.;INGR1_HUMAN	G	404;376	ENSP00000356713:E404G;ENSP00000443282:E376G	ENSP00000356713:E404G	E	-	2	0	0	IFNGR1	137561120	137561120	0.962000	0.33011	0.941000	0.38009	0.841000	0.47740	2.407000	0.44565	2.297000	0.77311	0.496000	0.49642	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1	0	0	1		15	29	2	1		1	1	67		67	67	1	2.060000	-3.258621	1	0.170000				49	47		245	242	1		1	1		1	0	67	0		9.999984e-01	1	0	150	0	519	0	49	245
OLIG3	167826	broad.mit.edu	37	6	137814750	137814750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	186					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726																																						ENST00000367734.2	1.000000	0.670000	1	9.100000e-01	0.990000	0.963469	0.990000	1.000000																										0				11						c.(556-558)ggC>ggT		oligodendrocyte transcription factor 3							15.0	18.0	17.0					6																	137814750		2195	4285	6480	SO:0001819	synonymous_variant	167826	0	0					g.chr6:137814750G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.558C>T	chr6.hg19:g.137814750G>A		0						p.G186G	NM_175747.2	NP_786923.1	0	0	0	1.973144	Q7RTU3	OLIG3_HUMAN		1	781	-	Breast(32;0.165)|Colorectal(23;0.24)		Q8N8Q0	Silent	SNP	ENST00000367734.2	0	1	hg19	c.558C>T	CCDS5186.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-18.911730	1	0.170000	NM_175747			12	12		102	101	0		1			0	0	11	0		9.992495e-01	0	0	0	0	0	0	12	102
OLIG3	167826	broad.mit.edu	37	6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	77					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602																																						ENST00000367734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(229-231)tCg>tTg		oligodendrocyte transcription factor 3							131.0	109.0	117.0					6																	137815078		2203	4300	6503	SO:0001583	missense	167826	0	0					g.chr6:137815078G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.230C>T	chr6.hg19:g.137815078G>A	ENSP00000356708:p.Ser77Leu	0						p.S77L	NM_175747.2	NP_786923.1	0	0	0	1.973144	Q7RTU3	OLIG3_HUMAN		1	453	-	Breast(32;0.165)|Colorectal(23;0.24)		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	1	1	hg19	c.230C>T	CCDS5186.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565225	0.65651	.	.	ENSG00000177468	ENST00000367734	T	0.72725	-0.68	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.084158	0.49916	D	0.000135	T	0.45357	0.1338	N	0.19112	0.55	0.58432	D	0.999999	B	0.34329	0.449	B	0.24701	0.055	T	0.56727	-0.7931	10	0.66056	D	0.02	-3.4036	19.2352	0.93856	0.0:0.0:1.0:0.0	.	77	Q7RTU3	OLIG3_HUMAN	L	77	ENSP00000356708:S77L	ENSP00000356708:S77L	S	-	2	0	0	OLIG3	137856771	137856771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	2.534000	0.85438	0.591000	0.81541	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.244633	1	0.170000	NM_175747			125	124		588	583	1		1			0	0	97	0		1	0	0	0	0	0	0	125	588
OLIG3	167826	broad.mit.edu	37	6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	23					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577																																						ENST00000367734.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(67-69)agG>agT		oligodendrocyte transcription factor 3							51.0	55.0	54.0					6																	137815239		2203	4300	6503	SO:0001583	missense	167826	0	0					g.chr6:137815239C>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.69G>T	chr6.hg19:g.137815239C>A	ENSP00000356708:p.Arg23Ser	0						p.R23S	NM_175747.2	NP_786923.1	0	0	0	1.973144	Q7RTU3	OLIG3_HUMAN		1	292	-	Breast(32;0.165)|Colorectal(23;0.24)		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	1	1	hg19	c.69G>T	CCDS5186.1	1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824495	0.32237	.	.	ENSG00000177468	ENST00000367734	D	0.99394	-5.82	5.55	2.91	0.33838	5.55	2.91	0.33838	.	0.150750	0.43747	D	0.000533	D	0.90669	0.7073	N	0.04508	-0.205	0.40100	D	0.976369	B	0.22800	0.075	B	0.17098	0.017	D	0.87028	0.2133	10	0.05525	T	0.97	-8.7311	11.6786	0.51444	0.0:0.7315:0.0:0.2685	.	23	Q7RTU3	OLIG3_HUMAN	S	23	ENSP00000356708:R23S	ENSP00000356708:R23S	R	-	3	2	2	OLIG3	137856932	137856932	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.372000	0.20467	0.975000	0.38392	0.591000	0.81541	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000	NM_175747			98	95		401	392	1		1			0	0	83	0		1	0	0	0	0	0	0	98	401
TNFAIP3	7128	broad.mit.edu	37	6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	556	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|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 protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6q23	6q23	7128	D, N, F	"""tumor necrosis factor, alpha-induced protein 3"""				L	L			marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	225						c.(1666-1668)cCt>cAt		tumor necrosis factor, alpha-induced protein 3							80.0	86.0	84.0					6																	138200249		2203	4300	6503	SO:0001583	missense	7128	0	0					g.chr6:138200249C>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1667C>A	chr6.hg19:g.138200249C>A	ENSP00000237289:p.Pro556His	0						p.P556H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	0	0	0	1.973144	P21580	TNAP3_HUMAN		7	1733	+	Breast(32;0.135)|Colorectal(23;0.24)		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	1	1	hg19	c.1667C>A	CCDS5187.1	1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573974	0.13623	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.31510	1.49	5.66	3.89	0.44902	5.66	3.89	0.44902	.	0.686361	0.15795	N	0.244243	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.05273	-1.0895	10	0.72032	D	0.01	-12.5527	8.7343	0.34519	0.0:0.7492:0.0:0.2508	.	556	P21580	TNAP3_HUMAN	H	556	ENSP00000237289:P556H	ENSP00000237289:P556H	P	+	2	0	0	TNFAIP3	138241942	138241942	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.342000	0.19926	0.753000	0.32945	-0.258000	0.10820	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1	1	0	1		2	2	2	0		0	0	83		83	78	1	2.060000	-2.800181	1	0.170000				90	89		370	356	1		1	1		0	0	83	0		1	1	0	12	0	131	0	90	370
PERP	64065	broad.mit.edu	37	6	138417631	138417631	+	Splice_Site	SNP	G	G	A	rs565134593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	72					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21525	0.0		0.0	False		,,,				2504	0.0					ENST00000421351.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				5						c.(214-216)gCg>gTg		PERP, TP53 apoptosis effector							45.0	45.0	45.0					6																	138417631		2203	4300	6503	SO:0001630	splice_region_variant	64065	1	121390	34				g.chr6:138417631G>A	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.215-1C>T	chr6.hg19:g.138417631G>A		0						p.A72V	NM_022121.4	NP_071404.2	0	0	0	1.973144	Q96FX8	PERP_HUMAN		2	385	-	Breast(32;0.0799)|Colorectal(23;0.24)		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Splice_Site	SNP	ENST00000421351.3	1	0	hg19	c.215C>T	CCDS5188.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241875	0.58995	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.89123	-2.47	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.458938	0.23404	N	0.048548	D	0.86694	0.5994	L	0.36672	1.1	0.58432	D	0.999997	D	0.65815	0.995	P	0.56514	0.8	D	0.86284	0.1669	10	0.42905	T	0.14	.	13.6399	0.62243	0.0:0.2003:0.7997:0.0	.	72	Q96FX8	PERP_HUMAN	V	72;54	ENSP00000397157:A72V	ENSP00000265603:A54V	A	-	2	0	0	PERP	138459324	138459324	1.000000	0.71417	0.942000	0.38095	0.026000	0.11368	3.975000	0.56859	2.758000	0.94735	0.561000	0.74099	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	1	0	1		2	2	2	0		0	0	30		30	27	1	2.060000	-16.279110	1	0.170000	NM_022121	Missense_Mutation		22	21		78	70	1		1	1		0	0	30	0		9.999987e-01	1	0	265	0	1005	0	22	78
KIAA1244	57221	broad.mit.edu	37	6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3			KIAA1244											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)		TCGGACTCTGCGTCTCCGGGA	0.597																																						ENST00000251691.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(880-882)gCg>gTg		KIAA1244							91.0	82.0	85.0					6																	138576683		2203	4300	6503	SO:0001583	missense	57221	5	121408	36				g.chr6:138576683C>T	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.881C>T	chr6.hg19:g.138576683C>T	ENSP00000251691:p.Ala294Val	0						p.A294V	NM_020340.4	NP_065073.3	0	0	0	1.973144				10	1047	+	Breast(32;0.135)			Missense_Mutation	SNP	ENST00000251691.4	1	1	hg19	c.881C>T	CCDS5189.2	1	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356982	0.11239	.	.	ENSG00000112379	ENST00000251691	T	0.18657	2.2	5.57	3.8	0.43715	5.57	3.8	0.43715	.	0.540113	0.21282	N	0.077130	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.13853	T	0.58	-19.3915	5.4561	0.16592	0.1404:0.6416:0.0:0.218	.	294	Q5TH69	BIG3_HUMAN	V	294	ENSP00000251691:A294V	ENSP00000251691:A294V	A	+	2	0	0	KIAA1244	138618376	138618376	0.028000	0.19301	0.022000	0.16811	0.010000	0.07245	2.061000	0.41403	0.726000	0.32339	0.655000	0.94253	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_020340			66	64		312	306	1		1	1		0	0	73	0		1	7.648452e-01	0	7	0	8	0	66	312
KIAA1244	57221	broad.mit.edu	37	6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3			KIAA1244											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)		TATTGGCCAAAATCTACAAAA	0.373																																						ENST00000251691.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.994693	0.990000	1.000000																										0				44						c.(4210-4212)aaA>aaC		KIAA1244							50.0	50.0	50.0					6																	138634943		2203	4300	6503	SO:0001583	missense	57221	0	0					g.chr6:138634943A>C	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.4212A>C	chr6.hg19:g.138634943A>C	ENSP00000251691:p.Lys1404Asn	0						p.K1404N	NM_020340.4	NP_065073.3	0	0	0	1.973144				26	4378	+	Breast(32;0.135)			Missense_Mutation	SNP	ENST00000251691.4	1	1	hg19	c.4212A>C	CCDS5189.2	1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026643	0.54683	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.03	1.44	0.22558	5.03	1.44	0.22558	.	0.108147	0.64402	D	0.000009	T	0.16642	0.0400	L	0.44542	1.39	0.45439	D	0.998411	D	0.67145	0.996	P	0.62740	0.906	T	0.02320	-1.1177	10	0.33940	T	0.23	-28.0464	8.1894	0.31359	0.7768:0.0:0.2232:0.0	.	1404	Q5TH69	BIG3_HUMAN	N	1404	ENSP00000251691:K1404N	ENSP00000251691:K1404N	K	+	3	2	2	KIAA1244	138676636	138676636	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.455000	0.35190	0.022000	0.15160	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_020340			21	21		151	144	1		1	1		0	0	30	0		9.999975e-01	7.884224e-01	0	8	0	15	0	21	151
KIAA1244	57221	broad.mit.edu	37	6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3			KIAA1244											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)		TGGGAAAGAAACCCCTTCCGA	0.647																																						ENST00000251691.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(5878-5880)Acc>Gcc		KIAA1244							20.0	20.0	20.0					6																	138655861		2203	4300	6503	SO:0001583	missense	57221	0	0					g.chr6:138655861A>G	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.5878A>G	chr6.hg19:g.138655861A>G	ENSP00000251691:p.Thr1960Ala	0						p.T1960A	NM_020340.4	NP_065073.3	0	0	0	1.973144				33	6044	+	Breast(32;0.135)			Missense_Mutation	SNP	ENST00000251691.4	1	1	hg19	c.5878A>G	CCDS5189.2	1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286561	0.59867	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.22134	1.97	5.87	5.87	0.94306	5.87	5.87	0.94306	.	1.991490	0.01726	N	0.028617	T	0.13841	0.0335	L	0.34521	1.04	0.80722	D	1	P	0.51351	0.944	B	0.43950	0.437	T	0.18085	-1.0348	10	0.25106	T	0.35	-33.4121	16.2646	0.82568	1.0:0.0:0.0:0.0	.	1960	Q5TH69	BIG3_HUMAN	A	1960;125	ENSP00000251691:T1960A	ENSP00000251691:T1960A	T	+	1	0	0	KIAA1244	138697554	138697554	1.000000	0.71417	0.121000	0.21740	0.182000	0.23217	9.092000	0.94157	2.243000	0.73865	0.443000	0.29094	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	0		2	2	2	0		0	0	29		29	28	1	2.060000	-2.999025	1	0.170000	NM_020340			34	34		127	126	0		1	1		0	0	29	0		1	9.448444e-01	0	10	0	11	0	34	127
KIAA1244	57221	broad.mit.edu	37	6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3			KIAA1244											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)		CAGTGTCTCGGTGAGAGACGC	0.652																																						ENST00000251691.4	1.000000	0.490000	1	7.700000e-01	0.990000	0.918752	0.990000	1.000000																										0				44						c.(6316-6318)Gtg>Ttg		KIAA1244							13.0	14.0	14.0					6																	138656299		2201	4298	6499	SO:0001583	missense	57221	0	0					g.chr6:138656299G>T	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.6316G>T	chr6.hg19:g.138656299G>T	ENSP00000251691:p.Val2106Leu	0						p.V2106L	NM_020340.4	NP_065073.3	0	0	0	1.973144				33	6482	+	Breast(32;0.135)			Missense_Mutation	SNP	ENST00000251691.4	0	1	hg19	c.6316G>T	CCDS5189.2	1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971814	0.18736	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.15952	2.38	5.76	4.89	0.63831	5.76	4.89	0.63831	.	0.717553	0.14079	N	0.342873	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.20519	T	0.43	-28.9434	8.9898	0.36017	0.2707:0.0:0.7293:0.0	.	2106	Q5TH69	BIG3_HUMAN	L	2106;147	ENSP00000251691:V2106L	ENSP00000251691:V2106L	V	+	1	0	0	KIAA1244	138697992	138697992	0.501000	0.26099	0.002000	0.10522	0.968000	0.65278	2.325000	0.43840	1.434000	0.47414	0.511000	0.50034	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-12.046570	1	0.170000	NM_020340			6	6		54	52	1		1	1		0	0	14	0		9.639799e-01	7.987928e-01	0	13	0	16	0	6	54
FOXF2	2295	broad.mit.edu	37	6	1390839	1390839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	219					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746																																						ENST00000259806.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999358	0.990000	1.000000																										0				8						c.(655-657)tcG>tcA		forkhead box F2							11.0	13.0	12.0					6																	1390839		2167	4250	6417	SO:0001819	synonymous_variant	2295	0	0					g.chr6:1390839G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.657G>A	chr6.hg19:g.1390839G>A		0						p.S219S	NM_001452.1	NP_001443.1	0	0	0	1.967613	Q12947	FOXF2_HUMAN		1	771	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	1	1	hg19	c.657G>A	CCDS4472.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				27	27		167	167	0		1	0		0	0	36	0		1	5.671655e-02	0	0	0	3	0	27	167
KIAA1244	57221	broad.mit.edu	37	6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3			KIAA1244											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)		AGACGCAGAAGCACAGATCCA	0.647																																						ENST00000251691.4	1.000000	0.630000	1	9.300000e-01	0.990000	0.962904	0.990000	1.000000																										0				44						c.(6331-6333)Gca>Aca		KIAA1244							12.0	13.0	13.0					6																	138656314		2201	4295	6496	SO:0001583	missense	57221	0	0					g.chr6:138656314G>A	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.6331G>A	chr6.hg19:g.138656314G>A	ENSP00000251691:p.Ala2111Thr	0						p.A2111T	NM_020340.4	NP_065073.3	0	0	0	1.973144				33	6497	+	Breast(32;0.135)			Missense_Mutation	SNP	ENST00000251691.4	0	1	hg19	c.6331G>A	CCDS5189.2	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377621	0.82682	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.76	4.89	0.63831	5.76	4.89	0.63831	.	0.280376	0.40469	N	0.001093	T	0.09069	0.0224	L	0.32530	0.975	0.50039	D	0.99984	B	0.18461	0.028	B	0.12837	0.008	T	0.04128	-1.0975	10	0.56958	D	0.05	-16.5692	14.6602	0.68865	0.0698:0.0:0.9302:0.0	.	2111	Q5TH69	BIG3_HUMAN	T	2111;152	ENSP00000251691:A2111T	ENSP00000251691:A2111T	A	+	1	0	0	KIAA1244	138698007	138698007	1.000000	0.71417	0.018000	0.16275	0.978000	0.69477	9.181000	0.94874	1.439000	0.47511	0.511000	0.50034	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	0	0	0		2	2	2	0		0	0	15		15	15	1	2.060000	-13.674830	1	0.170000	NM_020340			7	7		50	49	1		1	1		0	0	15	0		9.817722e-01	7.000645e-01	0	9	0	10	0	7	50
FOXF2	2295	broad.mit.edu	37	6	1391220	1391220	+	Silent	SNP	G	G	A	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	346					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706																																						ENST00000259806.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997567	0.990000	1.000000																										0				8						c.(1036-1038)tcG>tcA		forkhead box F2							11.0	11.0	11.0					6																	1391220		2167	4227	6394	SO:0001819	synonymous_variant	2295	0	0					g.chr6:1391220G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1038G>A	chr6.hg19:g.1391220G>A		0						p.S346S	NM_001452.1	NP_001443.1	0	0	0	1.967613	Q12947	FOXF2_HUMAN		1	1152	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	1	1	hg19	c.1038G>A	CCDS4472.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-19.999980	1	0.170000				14	14		73	72	0		1	0		0	0	19	0		9.998266e-01	5.631977e-01	0	0	0	11	0	14	73
CCDC28A	25901	broad.mit.edu	37	6	139097399	139097399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139097399C>T	ENST00000332797.6	+	2	567	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	138										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AACTTCACAGCGACCAAAGTT	0.358																																						ENST00000332797.6	0.540000	0.170000	4.300000e-01	2.400000e-01	0.320000	0.342463	0.320000	0.320000																										0				13						c.(412-414)Cga>Tga		coiled-coil domain containing 28A							94.0	88.0	90.0					6																	139097399		2203	4300	6503	SO:0001587	stop_gained	25901	1	121412	28				g.chr6:139097399C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.412C>T	chr6.hg19:g.139097399C>T	ENSP00000332716:p.Arg138*	0						p.R138*	NM_015439.2	NP_056254.1	0	0	0	1.973144	Q8IWP9	CC28A_HUMAN		2	567	+			E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Nonsense_Mutation	SNP	ENST00000332797.6	0	1	hg19	c.412C>T	CCDS5192.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.371234	0.97511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	.	.	.	5.79	-0.143	0.13444	5.79	-0.143	0.13444	.	0.280729	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6938	17.2014	0.86907	0.8113:0.1887:0.0:0.0	.	.	.	.	X	138;25	.	ENSP00000026464:R25X	R	+	1	2	2	CCDC28A	139139092	139139092	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.706000	0.37878	0.033000	0.15463	0.561000	0.74099	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	0	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.185556	1	0.170000	NM_015439			11	11		389	383	0		1	1		0	0	83	0		9.982427e-01	9.067783e-01	0	4	0	145	0	11	389
ECT2L	345930	broad.mit.edu	37	6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C	rs373325471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	439							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						TGGGATCCCAATGGGGAAAGG	0.428			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6q24.1	6q24.1	345930	N, Splice, Mis	epithelial cell transforming sequence 2 oncogene-like				L	L			ETP ALL		0				30						c.(1315-1317)caA>caC		epithelial cell transforming 2 like							69.0	67.0	68.0					6																	139186158		1860	4095	5955	SO:0001583	missense	345930	0	0					g.chr6:139186158A>C		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.1317A>C	chr6.hg19:g.139186158A>C	ENSP00000387388:p.Gln439His	0					ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000495970.1_3'UTR	p.Q439H			0	0	0	1.973144	Q008S8	ECT2L_HUMAN		11	1478	+			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	1	1	hg19	c.1317A>C	CCDS43508.1	1	.	.	.	.	.	.	.	.	.	.	A	4.105	0.017592	0.07959	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75154	0.2;0.2;-0.91	5.08	-5.87	0.02297	5.08	-5.87	0.02297	.	2.073900	0.05119	U	0.490444	T	0.26702	0.0653	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05370	-1.0889	10	0.30854	T	0.27	8.4498	1.4937	0.02461	0.4252:0.1031:0.2543:0.2174	.	370;439	F5H7S9;Q008S8	.;ECT2L_HUMAN	H	439;439;370	ENSP00000387388:Q439H;ENSP00000356655:Q439H;ENSP00000442307:Q370H	ENSP00000356655:Q439H	Q	+	3	2	2	ECT2L	139227851	139227851	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.178000	0.09782	-1.061000	0.03185	-0.462000	0.05337	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_001077706			62	61		270	266	1		1			0	0	56	0		1	0	0	0	0	0	0	62	270
REPS1	85021	broad.mit.edu	37	6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	571	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398																																						ENST00000450536.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1711-1713)Gtc>Ttc		RALBP1 associated Eps domain containing 1							114.0	106.0	109.0					6																	139237004		2203	4300	6503	SO:0001583	missense	85021	0	0					g.chr6:139237004C>A		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.1711G>T	chr6.hg19:g.139237004C>A	ENSP00000392065:p.Val571Phe	0					REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F|REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron	p.V571F			0	0	0	1.973144	Q96D71	REPS1_HUMAN		14	2285	-			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	1	1	hg19	c.1711G>T		1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694080	0.68386	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.31769	1.5;1.49;1.48;1.5;1.51	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.055755	0.64402	D	0.000001	T	0.16471	0.0396	L	0.33485	1.01	0.51233	D	0.999911	P;P;P;P	0.43477	0.773;0.716;0.664;0.808	B;B;B;B	0.40534	0.332;0.232;0.178;0.312	T	0.01500	-1.1339	10	0.52906	T	0.07	-8.3031	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	570;519;571;544	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	571;544;529;570;544;519	ENSP00000392065:V571F;ENSP00000356635:V544F;ENSP00000434251:V529F;ENSP00000258062:V570F;ENSP00000397941:V544F	ENSP00000258062:V570F	V	-	1	0	0	REPS1	139278697	139278697	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.398000	0.66308	2.832000	0.97577	0.655000	0.94253	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	0	0	1		2	7	2	1		1	0	59		59	59	1	2.060000	-20.000000	1	0.170000				74	73		323	311	1		1	1		1	0	59	0		1	9.967059e-01	0	23	0	64	0	74	323
REPS1	85021	broad.mit.edu	37	6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	449					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383																																						ENST00000450536.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1345-1347)gCt>gAt		RALBP1 associated Eps domain containing 1							103.0	98.0	99.0					6																	139242254		2203	4300	6503	SO:0001583	missense	85021	0	0					g.chr6:139242254G>T		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.1346C>A	chr6.hg19:g.139242254G>T	ENSP00000392065:p.Ala449Asp	0					REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D|REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D	p.A449D			0	0	0	1.973144	Q96D71	REPS1_HUMAN		11	1920	-			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	1	1	hg19	c.1346C>A		1	.	.	.	.	.	.	.	.	.	.	G	31	5.064595	0.93898	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.35605	1.43;1.32;1.3;1.46;1.44;1.33	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.979;0.998	D;D;D;P;D	0.85130	0.983;0.972;0.997;0.718;0.994	T	0.10567	-1.0624	10	0.13853	T	0.58	-16.3376	19.4156	0.94697	0.0:0.0:1.0:0.0	.	449;397;422;449;422	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	D	449;422;408;422;449;422;397;36	ENSP00000392065:A449D;ENSP00000356635:A422D;ENSP00000434251:A408D;ENSP00000386699:A422D;ENSP00000258062:A449D;ENSP00000397941:A422D	ENSP00000258062:A449D	A	-	2	0	0	REPS1	139283947	139283947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.595000	0.87683	0.557000	0.71058	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				55	51		213	207	1		1	1		0	0	52	0		1	9.999988e-01	0	22	0	60	0	55	213
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363																																						ENST00000450536.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				19						c.(805-807)Cgt>Tgt		RALBP1 associated Eps domain containing 1							152.0	137.0	142.0					6																	139265101		2203	4300	6503	SO:0001583	missense	85021	0	0					g.chr6:139265101G>A		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.805C>T	chr6.hg19:g.139265101G>A	ENSP00000392065:p.Arg269Cys	0					REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C|REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C	p.R269C			0	0	0	1.973144	Q96D71	REPS1_HUMAN		6	1379	-			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	1	1	hg19	c.805C>T		1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513044	0.85389	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32988	1.44;1.43;1.45;1.45;1.43;1.43	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.048115	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;D;P	0.63488	0.851;0.897;0.915;0.794	T	0.13019	-1.0525	10	0.59425	D	0.04	-11.6175	20.5211	0.99222	0.0:0.0:1.0:0.0	.	269;269;269;269	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	269;269;255;269;269;269;217	ENSP00000392065:R269C;ENSP00000356635:R269C;ENSP00000434251:R255C;ENSP00000386699:R269C;ENSP00000258062:R269C;ENSP00000397941:R269C	ENSP00000258062:R269C	R	-	1	0	0	REPS1	139306794	139306794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.239593	1	0.170000				44	44		235	232	1		1	1		0	0	73	0		1	9.984343e-01	0	11	0	44	0	44	235
HECA	51696	broad.mit.edu	37	6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	503					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547																																						ENST00000367658.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				15						c.(1507-1509)Gac>Aac		headcase homolog (Drosophila)							139.0	112.0	121.0					6																	139498117		2203	4300	6503	SO:0001583	missense	51696	0	0					g.chr6:139498117G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1507G>A	chr6.hg19:g.139498117G>A	ENSP00000356630:p.Asp503Asn	0					RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	p.D503N	NM_016217.2	NP_057301.1	0	0	0	1.973144	Q9UBI9	HDC_HUMAN		4	1792	+				Missense_Mutation	SNP	ENST00000367658.2	1	1	hg19	c.1507G>A	CCDS5194.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.586932	0.96578	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51356	-0.8716	9	0.25106	T	0.35	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	503	Q9UBI9	HDC_HUMAN	N	503	.	ENSP00000356630:D503N	D	+	1	0	0	HECA	139539810	139539810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-17.640610	1	0.170000	NM_016217			28	28		124	120	1		1	1		0	0	33	0		1	9.999893e-01	0	12	0	74	0	28	124
TXLNB	167838	broad.mit.edu	37	6	139563819	139563819	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647																																						ENST00000358430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1897-1899)ccA>ccG		taxilin beta							78.0	83.0	81.0					6																	139563819		2203	4300	6503	SO:0001819	synonymous_variant	167838	0	0					g.chr6:139563819T>C		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1899A>G	chr6.hg19:g.139563819T>C		0					RP1-225E12.3_ENST00000585874.1_RNA	p.P633P	NM_153235.3	NP_694967.3	0	0	0	1.973144	Q8N3L3	TXLNB_HUMAN		10	2131	-			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	1	1	hg19	c.1899A>G	CCDS34545.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_153235			118	117		558	554	1		1	0		0	0	93	0		1	4.215102e-01	0	0	0	8	0	118	558
TXLNB	167838	broad.mit.edu	37	6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	565						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602																																						ENST00000358430.3	1.000000	0.640000	1	7.700000e-01	0.920000	0.898901	0.920000	1.000000																										0				37						c.(1693-1695)gCc>gTc		taxilin beta							48.0	52.0	51.0					6																	139564024		2203	4300	6503	SO:0001583	missense	167838	0	0					g.chr6:139564024G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1694C>T	chr6.hg19:g.139564024G>A	ENSP00000351206:p.Ala565Val	0					RP1-225E12.3_ENST00000585874.1_RNA	p.A565V	NM_153235.3	NP_694967.3	0	0	0	1.973144	Q8N3L3	TXLNB_HUMAN		10	1926	-			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	1	1	hg19	c.1694C>T	CCDS34545.1	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.07	2.3	0.28687	5.07	2.3	0.28687	.	1.392830	0.04153	N	0.321664	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37911	-0.9685	9	.	.	.	0.428	5.143	0.14969	0.1847:0.1703:0.645:0.0	.	565	Q8N3L3	TXLNB_HUMAN	V	565	ENSP00000351206:A565V	.	A	-	2	0	0	TXLNB	139605717	139605717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.300000	0.22699	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-3.318794	1	0.170000	NM_153235			31	31		359	350	0		1	0		0	0	74	0		1	1.649806e-01	0	0	0	9	0	31	359
TXLNB	167838	broad.mit.edu	37	6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	148						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353																																						ENST00000358430.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(442-444)Cta>Ata		taxilin beta							90.0	89.0	89.0					6																	139598041		2202	4298	6500	SO:0001583	missense	167838	0	0					g.chr6:139598041G>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.442C>A	chr6.hg19:g.139598041G>T	ENSP00000351206:p.Leu148Ile	0					RP11-445F6.2_ENST00000441249.1_RNA	p.L148I	NM_153235.3	NP_694967.3	0	0	0	1.973144	Q8N3L3	TXLNB_HUMAN		3	674	-			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	1	1	hg19	c.442C>A	CCDS34545.1	1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469088	0.63625	.	.	ENSG00000164440	ENST00000358430	T	0.39997	1.05	5.06	4.18	0.49190	5.06	4.18	0.49190	.	0.067702	0.64402	N	0.000011	T	0.49695	0.1572	M	0.82323	2.585	0.38835	D	0.955921	D	0.63880	0.993	D	0.65573	0.936	T	0.56836	-0.7913	9	.	.	.	-10.2692	6.224	0.20698	0.1497:0.0:0.6965:0.1538	.	148	Q8N3L3	TXLNB_HUMAN	I	148	ENSP00000351206:L148I	.	L	-	1	2	2	TXLNB	139639734	139639734	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.799000	0.55529	1.235000	0.43724	0.555000	0.69702	CTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_153235			38	36		159	157	1		1	0		0	0	72	0		1	3.348670e-01	0	0	0	6	0	38	159
CITED2	10370	broad.mit.edu	37	6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	114					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|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)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(340-342)atG>atA		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							93.0	104.0	100.0					6																	139694740		2203	4300	6503	SO:0001583	missense	10370	0	0					g.chr6:139694740C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.342G>A	chr6.hg19:g.139694740C>T	ENSP00000356623:p.Met114Ile	0					CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	p.M114I	NM_006079.4	NP_006070.2	0	0	0	1.973144	Q99967	CITE2_HUMAN		2	557	-	Breast(32;0.226)		O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	1	1	hg19	c.342G>A	CCDS5195.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400326	0.42613	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.69685	-0.42;-0.42;-0.42	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.121048	0.51477	D	0.000081	T	0.59335	0.2186	M	0.62723	1.935	0.80722	D	1	P	0.48162	0.906	B	0.43575	0.424	T	0.62595	-0.6821	9	.	.	.	-3.6977	18.6953	0.91599	0.0:1.0:0.0:0.0	.	114	Q99967	CITE2_HUMAN	I	114	ENSP00000356623:M114I;ENSP00000442831:M114I;ENSP00000444198:M114I	.	M	-	3	0	0	CITED2	139736433	139736433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.431000	0.82371	0.462000	0.41574	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				73	70		292	285	0		1	1		0	0	42	0		1	1	0	47	0	216	0	73	292
CITED2	10370	broad.mit.edu	37	6	139695019	139695019	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	21	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|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)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(61-63)caC>caT		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							43.0	40.0	41.0					6																	139695019		2203	4300	6503	SO:0001819	synonymous_variant	10370	2	121404	32				g.chr6:139695019G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.63C>T	chr6.hg19:g.139695019G>A		0					CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	p.H21H	NM_006079.4	NP_006070.2	0	0	0	1.973144	Q99967	CITE2_HUMAN		2	278	-	Breast(32;0.226)		O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	1	1	hg19	c.63C>T	CCDS5195.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				36	35		157	152	1		1	1		0	0	38	0		1	1	0	28	0	240	0	36	157
NMBR	4829	broad.mit.edu	37	6	142396962	142396962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	332					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488																																						ENST00000258042.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(994-996)agG>agA		neuromedin B receptor							107.0	102.0	104.0					6																	142396962		2203	4300	6503	SO:0001819	synonymous_variant	4829	1	121410	29				g.chr6:142396962C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.996G>A	chr6.hg19:g.142396962C>T		0					NMBR_ENST00000480652.1_5'UTR	p.R332R	NM_002511.2	NP_002502.2	0	0	0	1.973144	P28336	NMBR_HUMAN		3	1136	-	Breast(32;0.155)		E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	1	1	hg19	c.996G>A	CCDS5196.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1	0	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-3.060933	1	0.170000				79	79		373	370	1		1			0	0	85	0		1	0	0	0	0	0	0	79	373
NMBR	4829	broad.mit.edu	37	6	142409766	142409766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	10					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617																																						ENST00000258042.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(28-30)tcG>tcA		neuromedin B receptor							28.0	30.0	29.0					6																	142409766		2203	4299	6502	SO:0001819	synonymous_variant	4829	0	0					g.chr6:142409766C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.30G>A	chr6.hg19:g.142409766C>T		0					RP11-137J7.2_ENST00000454401.1_RNA	p.S10S	NM_002511.2	NP_002502.2	0	0	0	1.973144	P28336	NMBR_HUMAN		1	170	-	Breast(32;0.155)		E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	1	1	hg19	c.30G>A	CCDS5196.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1	1	0	1		2	2	2	0		0	0	30		30	31	1	2.060000	-3.598287	1	0.170000				40	37		140	135	1		1			0	0	30	0		1	0	0	0	0	0	0	40	140
HIVEP2	3097	broad.mit.edu	37	6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367604.1	-	9	7777	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(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)		GAGGTACAGGGCTGACCTGGC	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(7138-7140)Ccc>Acc		human immunodeficiency virus type I enhancer binding protein 2							121.0	124.0	123.0					6																	143074447		2068	4202	6270	SO:0001583	missense	3097	0	0					g.chr6:143074447G>T	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.7138C>A	chr6.hg19:g.143074447G>T	ENSP00000356576:p.Pro2380Thr	0					RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T	p.P2380T			0	0	0	1.973144	P31629	ZEP2_HUMAN		9	7777	-			Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	1	1	hg19	c.7138C>A	CCDS43510.1	1	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752422	0.03041	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02177	4.41;4.41;4.41	5.78	3.89	0.44902	5.78	3.89	0.44902	.	0.365525	0.29646	N	0.011573	T	0.00524	0.0017	N	0.08118	0	0.26332	N	0.977501	B	0.06786	0.001	B	0.04013	0.001	T	0.48822	-0.9001	10	0.24483	T	0.36	-9.7779	11.1307	0.48345	0.0:0.2168:0.5767:0.2064	.	2380	P31629	ZEP2_HUMAN	T	2380	ENSP00000356576:P2380T;ENSP00000356575:P2380T;ENSP00000012134:P2380T	ENSP00000012134:P2380T	P	-	1	0	0	HIVEP2	143116140	143116140	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.515000	0.22801	1.431000	0.47355	0.655000	0.94253	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000				118	116		546	531	1		1	1		0	0	133	0		1	9.999997e-01	0	24	0	75	0	118	546
HIVEP2	3097	broad.mit.edu	37	6	143081626	143081626	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367604.1	-	8	6438	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000012134.2_Silent_p.S1933S|HIVEP2_ENST00000367603.2_Silent_p.S1933S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(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)		TGGTGCTTCTTGATCTTGTTT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1	1.000000	0.600000	1	7.500000e-01	0.940000	0.899945	0.940000	1.000000																										0				100						c.(5797-5799)tcA>tcG		human immunodeficiency virus type I enhancer binding protein 2							63.0	67.0	66.0					6																	143081626		2029	4181	6210	SO:0001819	synonymous_variant	3097	0	0					g.chr6:143081626T>C	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.5799A>G	chr6.hg19:g.143081626T>C		0					HIVEP2_ENST00000367603.2_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S	p.S1933S			0	0	0	1.973144	P31629	ZEP2_HUMAN		8	6438	-			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	1	1	hg19	c.5799A>G	CCDS43510.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				20	19		226	220	0		1	1		0	0	52	0		9.999949e-01	9.993672e-01	0	9	0	128	0	20	226
HIVEP2	3097	broad.mit.edu	37	6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367604.1	-	7	6230	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(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)		ATCATCCACCGATGTCATTGA	0.403																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(5590-5592)tCg>tTg		human immunodeficiency virus type I enhancer binding protein 2							188.0	177.0	180.0					6																	143082630		1893	4120	6013	SO:0001583	missense	3097	3	120850	41				g.chr6:143082630G>A	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.5591C>T	chr6.hg19:g.143082630G>A	ENSP00000356576:p.Ser1864Leu	0					HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L	p.S1864L			0	0	0	1.973144	P31629	ZEP2_HUMAN		7	6230	-			Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	1	1	hg19	c.5591C>T	CCDS43510.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708935	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54077	-0.8347	10	0.72032	D	0.01	-16.1067	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1864	P31629	ZEP2_HUMAN	L	1864	ENSP00000356576:S1864L;ENSP00000356575:S1864L;ENSP00000012134:S1864L	ENSP00000012134:S1864L	S	-	2	0	0	HIVEP2	143124323	143124323	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.812000	0.75226	2.668000	0.90789	0.563000	0.77884	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1		2	2	2	0		0	0	151		151	150	1	2.060000	-20.000000	1	0.170000				163	159		726	715	1		1	1		0	0	151	0		1	9.999987e-01	0	18	0	67	0	163	726
HIVEP2	3097	broad.mit.edu	37	6	143092570	143092570	+	Silent	SNP	G	G	A	rs183518544	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143092570G>A	ENST00000367604.1	-	4	3945	c.3306C>T	c.(3304-3306)agC>agT	p.S1102S	HIVEP2_ENST00000012134.2_Silent_p.S1102S|HIVEP2_ENST00000367603.2_Silent_p.S1102S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(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)		CTTGCTTCACGCTCTGATCCA	0.612													G|||	7	0.00139776	0.0008	0.0029	5008	,	,		18044	0.003		0.0	False		,,,				2504	0.001				Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1	1.000000	0.810000	1	9.300000e-01	0.990000	0.976778	0.990000	1.000000																										0				100						c.(3304-3306)agC>agT		human immunodeficiency virus type I enhancer binding protein 2		G		3,4235		0,3,2116	51.0	57.0	55.0		3306	-5.7	0.0	6		55	0,8492		0,0,4246	no	coding-synonymous	HIVEP2	NM_006734.3		0,3,6362	AA,AG,GG		0.0,0.0708,0.0236		1102/2447	143092570	3,12727	2119	4246	6365	SO:0001819	synonymous_variant	3097	154	121072	54				g.chr6:143092570G>A	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.3306C>T	chr6.hg19:g.143092570G>A		0					HIVEP2_ENST00000367603.2_Silent_p.S1102S|HIVEP2_ENST00000012134.2_Silent_p.S1102S	p.S1102S			0	0	0	1.973144	P31629	ZEP2_HUMAN		4	3945	-			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	1	0	hg19	c.3306C>T	CCDS43510.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-15.231350	1	0.170000				51	51		499	492	0		1	1		0	0	89	0		1	9.205896e-01	0	7	0	37	0	51	499
HIVEP2	3097	broad.mit.edu	37	6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367604.1	-	4	1808	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P390Q(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)		TTTACTGTGCGGGCTCAGAAG	0.443																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P390Q(1)	lung(1)	100						c.(1168-1170)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 2							131.0	127.0	128.0					6																	143094707		1898	4122	6020	SO:0001583	missense	3097	0	0					g.chr6:143094707G>A	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.1169C>T	chr6.hg19:g.143094707G>A	ENSP00000356576:p.Pro390Leu	0					HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L	p.P390L			0	0	0	1.973144	P31629	ZEP2_HUMAN		4	1808	-			Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	1	1	hg19	c.1169C>T	CCDS43510.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277436	0.80580	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	10	0.87932	D	0	-23.2456	20.0844	0.97795	0.0:0.0:1.0:0.0	.	390	P31629	ZEP2_HUMAN	L	390	ENSP00000356576:P390L;ENSP00000356575:P390L;ENSP00000012134:P390L	ENSP00000012134:P390L	P	-	2	0	0	HIVEP2	143136400	143136400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-2.404839	0	0.170000				146	144		595	591	1		1	1		0	0	128	0		1	9.983843e-01	0	5	0	36	0	146	595
ADAT2	134637	broad.mit.edu	37	6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T	rs532452116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000237283.8	-	4	403	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ADAT2_ENST00000606514.1_Missense_Mutation_p.R83Q	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	130					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20425	0.0		0.0	False		,,,				2504	0.0					ENST00000237283.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(388-390)cGa>cAa		adenosine deaminase, tRNA-specific 2							149.0	135.0	140.0					6																	143753712		1921	4135	6056	SO:0001583	missense	134637	2	120858	36				g.chr6:143753712C>T	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.389G>A	chr6.hg19:g.143753712C>T	ENSP00000237283:p.Arg130Gln	0					ADAT2_ENST00000606514.1_Missense_Mutation_p.R83Q	p.R130Q	NM_182503.2	NP_872309.2	0	0	0	1.973144	Q7Z6V5	ADAT2_HUMAN		4	403	-			A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	1	1	hg19	c.389G>A	CCDS43511.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.718738	0.96839	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	Cytidine deaminase-like (1);	0.119263	0.56097	D	0.000022	D	0.85557	0.5724	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88504	0.3084	9	0.87932	D	0	-6.0983	19.7578	0.96301	0.0:1.0:0.0:0.0	.	130	Q7Z6V5	ADAT2_HUMAN	Q	83;130	.	ENSP00000237283:R130Q	R	-	2	0	0	ADAT2	143795405	143795405	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.079000	0.76829	2.746000	0.94184	0.591000	0.81541	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.151684	1	0.170000	XM_059727			66	65		347	341	1		1	1		0	0	71	0		1	7.799520e-01	0	4	0	13	0	66	347
PEX3	8504	broad.mit.edu	37	6	143780343	143780343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	65					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)			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)		AGAGGACTTGCAATATGACAG	0.378																																						ENST00000367591.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(193-195)tgC>tgT		peroxisomal biogenesis factor 3							118.0	115.0	116.0					6																	143780343		2203	4300	6503	SO:0001819	synonymous_variant	8504	0	0					g.chr6:143780343C>T	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.195C>T	chr6.hg19:g.143780343C>T		0						p.C65C	NM_003630.2	NP_003621.1	0	0	0	1.973144	P56589	PEX3_HUMAN		2	258	+			Q6FGP5	Silent	SNP	ENST00000367591.4	1	1	hg19	c.195C>T	CCDS5199.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				122	118		490	475	1		1	1		0	0	95	0		1	9.999994e-01	0	29	0	54	0	122	490
PHACTR2	9749	broad.mit.edu	37	6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	342							protein phosphatase inhibitor activity (GO:0004864)			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)		CCCTCTCCCTCTTGAGGATCA	0.582																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1024-1026)Ctt>Att		phosphatase and actin regulator 2							59.0	64.0	62.0					6																	144086760		2016	4154	6170	SO:0001583	missense	9749	0	0					g.chr6:144086760C>A	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.1024C>A	chr6.hg19:g.144086760C>A	ENSP00000391763:p.Leu342Ile	0					PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I	p.L342I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	0	0	0	1.973144	O75167	PHAR2_HUMAN		6	1154	+			A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	1	1	hg19	c.1024C>A	CCDS47492.1	1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723102	0.30503	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33654	1.4;1.83;1.44;1.83;1.44	5.22	2.34	0.29019	5.22	2.34	0.29019	.	1.943490	0.02138	N	0.056949	T	0.13200	0.0320	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.29766	0.256;0.019;0.019;0.011	B;B;B;B	0.32289	0.143;0.015;0.015;0.007	T	0.16808	-1.0390	10	0.16896	T	0.51	.	5.5824	0.17256	0.0:0.4751:0.291:0.2338	.	353;262;273;342	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	330;342;262;353;273	ENSP00000356556:L330I;ENSP00000391763:L342I;ENSP00000305530:L262I;ENSP00000417038:L353I;ENSP00000356554:L273I	ENSP00000305530:L262I	L	+	1	0	0	PHACTR2	144128453	144128453	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.023000	0.13533	0.549000	0.28973	0.655000	0.94253	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_014721			74	70		321	306	1		1	1		0	0	96	0		1	9.999992e-01	0	11	0	80	0	74	321
PHACTR2	9749	broad.mit.edu	37	6	144086912	144086912	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367582.3_Silent_p.S323S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	392							protein phosphatase inhibitor activity (GO:0004864)			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)		CTGGCTTAAGTGTTAACAGAG	0.458																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1174-1176)agT>agC		phosphatase and actin regulator 2							73.0	69.0	70.0					6																	144086912		1881	4105	5986	SO:0001819	synonymous_variant	9749	0	0					g.chr6:144086912T>C	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.1176T>C	chr6.hg19:g.144086912T>C		0					PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367582.3_Silent_p.S323S	p.S392S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	0	0	0	1.973144	O75167	PHAR2_HUMAN		6	1306	+			A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	1	1	hg19	c.1176T>C	CCDS47492.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_014721			88	88		391	383	0		1	1		0	0	107	0		1	9.998653e-01	0	5	0	55	0	88	391
PLAGL1	5325	broad.mit.edu	37	6	144263408	144263408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	ENST00000360537.2	-	5	2458	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	182					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)			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)		CAGGAAGTCCTTGCATCCTGT	0.557											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2	0.470000	0.150000	3.800000e-01	2.100000e-01	0.280000	0.301079	0.280000	0.280000																										0				13						c.(544-546)aAg>aCg		pleiomorphic adenoma gene-like 1							99.0	89.0	92.0					6																	144263408		2203	4300	6503	SO:0001583	missense	5325	0	0					g.chr6:144263408T>G	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.545A>C	chr6.hg19:g.144263408T>G	ENSP00000353734:p.Lys182Thr	0		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T	p.K182T			0	0	0	1.973144	Q9UM63	PLAL1_HUMAN		5	2458	-			B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	0	1	hg19	c.545A>C	CCDS5202.1	0	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560945	0.86335	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.88	5.88	0.94601	5.88	5.88	0.94601	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.76300	0.3968	M	0.80847	2.515	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	T	0.80594	-0.1313	10	0.87932	D	0	-36.5868	15.4686	0.75422	0.0:0.0:0.0:1.0	.	182	Q9UM63	PLAL1_HUMAN	T	182;182;182;182;182;182;130;130;130;182;130	ENSP00000353734:K182T;ENSP00000346810:K182T;ENSP00000400929:K182T;ENSP00000398409:K182T;ENSP00000376125:K182T;ENSP00000400060:K182T;ENSP00000392418:K130T;ENSP00000376124:K130T;ENSP00000356544:K130T;ENSP00000356543:K182T;ENSP00000395960:K130T	ENSP00000346810:K182T	K	-	2	0	0	PLAGL1	144305101	144305101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.989000	0.88205	2.235000	0.73313	0.533000	0.62120	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1	0	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.286311	1	0.170000				11	11		445	433	0		1	0		0	0	81	0		9.981134e-01	1.970376e-01	0	0	0	31	0	11	445
PLAGL1	5325	broad.mit.edu	37	6	144263595	144263595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263595G>A	ENST00000360537.2	-	5	2271	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	120					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)			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)		CCACAGGTGAGGTCCCCACTG	0.597											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2	0.690000	0.150000	5.300000e-01	2.400000e-01	0.360000	0.392258	0.360000	0.340000																										0				13						c.(358-360)Ctc>Ttc		pleiomorphic adenoma gene-like 1							74.0	67.0	70.0					6																	144263595		2203	4300	6503	SO:0001583	missense	5325	0	0					g.chr6:144263595G>A	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.358C>T	chr6.hg19:g.144263595G>A	ENSP00000353734:p.Leu120Phe	0		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F	p.L120F			0	0	0	1.973144	Q9UM63	PLAL1_HUMAN		5	2271	-			B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	0	1	hg19	c.358C>T	CCDS5202.1	0	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772300	0.90108	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.98;2.98;2.98;2.92;2.98	6.17	6.17	0.99709	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000018	T	0.06962	0.0177	N	0.02751	-0.505	0.58432	D	0.999999	P	0.43519	0.809	P	0.53722	0.733	T	0.51616	-0.8683	10	0.51188	T	0.08	-42.4362	19.8676	0.96824	0.0:0.0:1.0:0.0	.	120	Q9UM63	PLAL1_HUMAN	F	120;120;120;120;120;120;68;68;68;120;68	ENSP00000353734:L120F;ENSP00000346810:L120F;ENSP00000400929:L120F;ENSP00000398409:L120F;ENSP00000376125:L120F;ENSP00000400060:L120F;ENSP00000392418:L68F;ENSP00000376124:L68F;ENSP00000356544:L68F;ENSP00000356543:L120F;ENSP00000395960:L68F	ENSP00000346810:L120F	L	-	1	0	0	PLAGL1	144305288	144305288	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.870000	0.87175	2.941000	0.99782	0.655000	0.94253	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-2.977921	1	0.170000				6	6		194	190	0		1	0		0	0	39	0		9.634398e-01	3.831698e-01	0	1	0	38	0	6	194
SF3B5	83443	broad.mit.edu	37	6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	27					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592																																						ENST00000367569.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(79-81)Acc>Gcc		splicing factor 3b, subunit 5, 10kDa							87.0	72.0	77.0					6																	144416556		2203	4300	6503	SO:0001583	missense	83443	0	0					g.chr6:144416556T>C	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.79A>G	chr6.hg19:g.144416556T>C	ENSP00000356541:p.Thr27Ala	0						p.T27A	NM_031287.2	NP_112577.1	0	0	0	1.973144	Q9BWJ5	SF3B5_HUMAN		1	198	-			B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	1	1	hg19	c.79A>G	CCDS5204.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111018	0.77210	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.093132	0.64402	D	0.000001	T	0.43765	0.1262	.	.	.	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.48703	-0.9012	8	0.72032	D	0.01	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	27	Q9BWJ5	SF3B5_HUMAN	A	27	.	ENSP00000356541:T27A	T	-	1	0	0	SF3B5	144458249	144458249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.799000	0.85936	2.324000	0.78689	0.533000	0.62120	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	1	0	1		2	2	2	0		0	0	81		81	68	1	2.060000	-20.000000	1	0.170000	NM_031287			65	62		294	268	1		1	1		0	0	81	0		1	1	0	257	0	555	0	65	294
STX11	8676	broad.mit.edu	37	6	144508031	144508031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	89					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)			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)		CCAACTCCATCGCCAAGGCCA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(265-267)atC>atT		syntaxin 11							26.0	27.0	26.0					6																	144508031		2203	4299	6502	SO:0001819	synonymous_variant	8676	0	0		Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	g.chr6:144508031C>T	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.267C>T	chr6.hg19:g.144508031C>T		0						p.I89I	NM_003764.3	NP_003755.2	0	0	0	1.973144	O75558	STX11_HUMAN		2	450	+			E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	1	1	hg19	c.267C>T	CCDS5205.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				47	47		191	188	1		1	0		0	0	46	0		1	9.534877e-01	0	1	0	22	0	47	191
UTRN	7402	broad.mit.edu	37	6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	366	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)			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)		CCAGAGCAGTGTGGGCAGCGT	0.443																																						ENST00000367545.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999195	0.990000	1.000000																										0				148						c.(1096-1098)Gtg>Atg		utrophin							81.0	77.0	78.0					6																	144758737		2203	4300	6503	SO:0001583	missense	7402	0	0					g.chr6:144758737G>A	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.1096G>A	chr6.hg19:g.144758737G>A	ENSP00000356515:p.Val366Met	0						p.V366M	NM_007124.2	NP_009055.2	0	0	0	1.973144	P46939	UTRO_HUMAN		10	1096	+		Ovarian(120;0.218)	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	1	1	hg19	c.1096G>A	CCDS34547.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912214	0.92178	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58210	0.35	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000415	T	0.74007	0.3660	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78239	-0.2281	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	366	P46939	UTRO_HUMAN	M	366	ENSP00000356515:V366M	ENSP00000356499:V366M	V	+	1	0	0	UTRN	144800430	144800430	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				39	38		279	273	1		1	1		0	0	74	0		1	9.878341e-01	0	8	0	44	0	39	279
UTRN	7402	broad.mit.edu	37	6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	372	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)			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)		CGTCCTGCAGGCAGGCAACCA	0.463																																						ENST00000367545.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				148						c.(1114-1116)Gca>Aca		utrophin							95.0	87.0	90.0					6																	144758755		2203	4300	6503	SO:0001583	missense	7402	0	0					g.chr6:144758755G>A	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.1114G>A	chr6.hg19:g.144758755G>A	ENSP00000356515:p.Ala372Thr	0						p.A372T	NM_007124.2	NP_009055.2	0	0	0	1.973144	P46939	UTRO_HUMAN		10	1114	+		Ovarian(120;0.218)	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	1	1	hg19	c.1114G>A	CCDS34547.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019322	0.93462	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47528	0.84	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.61615	0.2361	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56944	-0.7895	10	0.34782	T	0.22	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	372	P46939	UTRO_HUMAN	T	372	ENSP00000356515:A372T	ENSP00000356499:A372T	A	+	1	0	0	UTRN	144800448	144800448	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	0		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				48	46		278	273	1		1	1		0	0	85	0		1	9.995456e-01	0	11	0	58	0	48	278
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000367545.3	1.000000	0.780000	1	9.900000e-01	0.990000	0.983173	0.990000	1.000000																										2	Substitution - Nonsense(2)	p.R571*(2)	large_intestine(1)|breast(1)	148						c.(1711-1713)Cga>Tga		utrophin							118.0	104.0	109.0					6																	144768443		2203	4300	6503	SO:0001587	stop_gained	7402	1	121400	27				g.chr6:144768443C>T	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	chr6.hg19:g.144768443C>T	ENSP00000356515:p.Arg571*	0						p.R571*	NM_007124.2	NP_009055.2	0	0	0	1.973144	P46939	UTRO_HUMAN		14	1711	+		Ovarian(120;0.218)	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	0	1	hg19	c.1711C>T	CCDS34547.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	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	2	UTRN	144810136	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	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-8.920921	1	0.170000				15	15		116	115	1		1	0		0	0	20	0		9.998991e-01	9.995198e-01	0	1	0	104	0	15	116
UTRN	7402	broad.mit.edu	37	6	144780066	144780066	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	815	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)			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)		AGGTCATCAAGACAAAGGAGG	0.423																																						ENST00000367545.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(2443-2445)aaG>aaA		utrophin							53.0	55.0	54.0					6																	144780066		2202	4300	6502	SO:0001819	synonymous_variant	7402	0	0					g.chr6:144780066G>A	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.2445G>A	chr6.hg19:g.144780066G>A		0						p.K815K	NM_007124.2	NP_009055.2	0	0	0	1.973144	P46939	UTRO_HUMAN		19	2445	+		Ovarian(120;0.218)	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	1	1	hg19	c.2445G>A	CCDS34547.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000				48	47		210	206	1		1	1		0	0	54	0		1	9.999227e-01	0	14	0	51	0	48	210
UTRN	7402	broad.mit.edu	37	6	145075930	145075930	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2810	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)			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)		AGCATTTTCTCTCTAGTAAGT	0.383																																						ENST00000367545.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(8428-8430)ctC>ctA		utrophin							104.0	103.0	104.0					6																	145075930		2203	4300	6503	SO:0001819	synonymous_variant	7402	0	0					g.chr6:145075930C>A	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.8430C>A	chr6.hg19:g.145075930C>A		0					UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	p.L2810L	NM_007124.2	NP_009055.2	0	0	0	1.973144	P46939	UTRO_HUMAN		56	8430	+		Ovarian(120;0.218)	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	1	1	hg19	c.8430C>A	CCDS34547.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.046484	1	0.170000				65	63		269	263	1		1	1		0	0	63	0		1	1	0	43	0	103	0	65	269
FBXO30	84085	broad.mit.edu	37	6	146126966	146126966	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146126966A>C	ENST00000237281.4	-	2	742	c.576T>G	c.(574-576)agT>agG	p.S192R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	192							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CAGCAGCCAAACTTCTGGTTG	0.398																																						ENST00000237281.4	0.300000	0.100000	2.500000e-01	1.400000e-01	0.180000	0.198654	0.180000	0.190000																										0				26						c.(574-576)agT>agG		F-box protein 30							163.0	162.0	162.0					6																	146126966		2203	4300	6503	SO:0001583	missense	84085	0	0					g.chr6:146126966A>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.576T>G	chr6.hg19:g.146126966A>C	ENSP00000237281:p.Ser192Arg	0						p.S192R	NM_032145.4	NP_115521.3	0	0	0	1.973144	Q8TB52	FBX30_HUMAN		2	742	-		Ovarian(120;0.0776)	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	0	1	hg19	c.576T>G	CCDS5208.1	0	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649346	0.47362	.	.	ENSG00000118496	ENST00000237281	T	0.30448	1.53	5.82	4.63	0.57726	5.82	4.63	0.57726	.	0.074325	0.85682	D	0.000000	T	0.35422	0.0931	L	0.58101	1.795	0.58432	D	0.999998	D	0.65815	0.995	P	0.62560	0.904	T	0.18681	-1.0329	10	0.54805	T	0.06	-23.7079	12.0806	0.53669	0.932:0.0:0.068:0.0	.	192	Q8TB52	FBX30_HUMAN	R	192	ENSP00000237281:S192R	ENSP00000237281:S192R	S	-	3	2	2	FBXO30	146168659	146168659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.953000	0.49105	0.984000	0.38629	0.482000	0.46254	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2	0	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-10.171070	1	0.170000				15	15		914	907	0		1	0		0	0	162	0		9.998604e-01	1.522986e-01	0	0	0	40	0	15	914
SHPRH	257218	broad.mit.edu	37	6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367505.2	-	28	5104	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1614	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		CTCCCTATGGCCTGAAGCTCA	0.438																																						ENST00000367505.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(4840-4842)Gcc>Acc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							90.0	87.0	88.0					6																	146214385		1858	4099	5957	SO:0001583	missense	257218	0	0					g.chr6:146214385C>T	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.4840G>A	chr6.hg19:g.146214385C>T	ENSP00000356475:p.Ala1614Thr	0					SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T	p.A1614T			0	0	0	1.973144	Q149N8	SHPRH_HUMAN		28	5104	-		Ovarian(120;0.0365)	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	1	1	hg19	c.4840G>A	CCDS43513.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.44	5.44	0.79542	5.44	5.44	0.79542	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94992	0.8135	10	0.87932	D	0	-12.4244	19.2562	0.93947	0.0:1.0:0.0:0.0	.	1614;1618	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	36;62;1614;1618;1618;1614	ENSP00000403790:A36T;ENSP00000356475:A1614T;ENSP00000356473:A1618T;ENSP00000412797:A1618T;ENSP00000275233:A1614T	ENSP00000275233:A1614T	A	-	1	0	0	SHPRH	146256078	146256078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.585000	0.79938	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_173082			43	41		184	181	1		1	1		0	0	47	0		1	9.234687e-01	0	4	0	16	0	43	184
SHPRH	257218	broad.mit.edu	37	6	146214434	146214434	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367505.2	-	28	5055	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T|SHPRH_ENST00000367503.3_Silent_p.T1601T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1597	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		AGAGAACATGAGTTGCTTCAA	0.443																																						ENST00000367505.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(4789-4791)acT>acC		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							96.0	93.0	94.0					6																	146214434		1879	4102	5981	SO:0001819	synonymous_variant	257218	0	0					g.chr6:146214434A>G	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.4791T>C	chr6.hg19:g.146214434A>G		0					SHPRH_ENST00000367503.3_Silent_p.T1601T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T	p.T1597T			0	0	0	1.973144	Q149N8	SHPRH_HUMAN		28	5055	-		Ovarian(120;0.0365)	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	1	1	hg19	c.4791T>C	CCDS43513.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-19.999490	1	0.170000	NM_173082			39	37		168	166	1		1	1		0	0	39	0		1	9.954898e-01	0	8	0	31	0	39	168
SHPRH	257218	broad.mit.edu	37	6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367505.2	-	9	2020	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q|SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	586					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)			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)		CTTTTTCCTTTTTTTGTGGAT	0.373																																						ENST00000367505.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(1756-1758)Aaa>Caa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							255.0	234.0	240.0					6																	146264761		1909	4122	6031	SO:0001583	missense	257218	0	0					g.chr6:146264761T>G	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.1756A>C	chr6.hg19:g.146264761T>G	ENSP00000356475:p.Lys586Gln	0					SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q	p.K586Q			0	0	0	1.973144	Q149N8	SHPRH_HUMAN		9	2020	-		Ovarian(120;0.0365)	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	1	1	hg19	c.1756A>C	CCDS43513.2	1	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134688	0.21123	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	4.28	0.50868	5.46	4.28	0.50868	DEAD-like helicase (1);	0.598979	0.16529	N	0.210466	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B;B;P	0.43094	0.002;0.229;0.191;0.799	B;B;B;B	0.36845	0.009;0.175;0.109;0.234	T	0.08391	-1.0724	10	0.33940	T	0.23	-11.4061	2.5385	0.04720	0.1425:0.0804:0.2966:0.4805	.	475;586;586;475	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	586;586;586;586;475	ENSP00000356475:K586Q;ENSP00000356473:K586Q;ENSP00000412797:K586Q;ENSP00000275233:K586Q	ENSP00000275233:K586Q	K	-	1	0	0	SHPRH	146306454	146306454	0.920000	0.31207	0.010000	0.14722	0.097000	0.18754	2.129000	0.42055	0.997000	0.38969	0.528000	0.53228	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_173082			153	150		640	631	1		1	1		0	0	93	0		1	8.868484e-01	0	3	0	15	0	153	640
SHPRH	257218	broad.mit.edu	37	6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367505.2	-	2	832	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W|SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					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)			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)		TGTAGCCACCCCAAATCTTCT	0.378																																						ENST00000367505.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				79						c.(568-570)Ggg>Tgg		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							117.0	111.0	113.0					6																	146275891		1842	4102	5944	SO:0001583	missense	257218	0	0					g.chr6:146275891C>A	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.568G>T	chr6.hg19:g.146275891C>A	ENSP00000356475:p.Gly190Trp	0					SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W	p.G190W			0	0	0	1.973144	Q149N8	SHPRH_HUMAN		2	832	-		Ovarian(120;0.0365)	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	1	1	hg19	c.568G>T	CCDS43513.2	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945785	0.53079	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	4.68	0.58851	5.66	4.68	0.58851	.	0.686958	0.14236	N	0.332375	T	0.41119	0.1145	L	0.36672	1.1	0.22317	N	0.999206	D;P;P;P	0.54964	0.969;0.911;0.947;0.83	P;B;P;B	0.49528	0.614;0.39;0.594;0.311	T	0.45498	-0.9257	10	0.66056	D	0.02	-5.7981	3.7092	0.08413	0.0:0.6591:0.0:0.3409	.	79;190;190;79	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	W	190;190;190;190;79	ENSP00000356475:G190W;ENSP00000356473:G190W;ENSP00000412797:G190W;ENSP00000275233:G190W	ENSP00000275233:G190W	G	-	1	0	0	SHPRH	146317584	146317584	0.997000	0.39634	0.960000	0.40013	0.600000	0.36913	4.332000	0.59279	2.672000	0.90937	0.655000	0.94253	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-2.529705	1	0.170000	NM_173082			71	68		351	342	1		1	1		0	0	75	0		1	7.099426e-01	0	6	0	8	0	71	351
GRM1	2911	broad.mit.edu	37	6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000282753.1	+	1	363	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000392299.2_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					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)			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)		AGAATGGACGGAGATGTCATC	0.597																																						ENST00000282753.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(127-129)gGa>gTa		glutamate receptor, metabotropic 1							86.0	91.0	90.0					6																	146350781		2203	4300	6503	SO:0001583	missense	2911	0	0					g.chr6:146350781G>T	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.128G>T	chr6.hg19:g.146350781G>T	ENSP00000282753:p.Gly43Val	0					GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000392299.2_Missense_Mutation_p.G43V	p.G43V			0	0	0	1.973144	Q13255	GRM1_HUMAN		1	363	+		Ovarian(120;0.0387)	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	1	1	hg19	c.128G>T	CCDS5209.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637900	0.87760	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.87758	2.905	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;1.0;1.0	D	0.94539	0.7743	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	43;43;38;43	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	43	ENSP00000354896:G43V;ENSP00000376119:G43V;ENSP00000424095:G43V;ENSP00000282753:G43V;ENSP00000347437:G43V;ENSP00000425599:G43V	ENSP00000282753:G43V	G	+	2	0	0	GRM1	146392474	146392474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.619000	0.88677	0.561000	0.74099	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000	NM_000838			139	136		609	601	1		1			0	0	134	0		1	0	0	0	0	0	0	139	609
GRM1	2911	broad.mit.edu	37	6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000282753.1	+	3	1244	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000392299.2_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	337					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)			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)		AGCCAACGGGGGAATCACGAT	0.473																																						ENST00000282753.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998816	0.990000	1.000000																										0				126						c.(1009-1011)Gga>Aga		glutamate receptor, metabotropic 1							102.0	86.0	92.0					6																	146625805		2203	4300	6503	SO:0001583	missense	2911	0	0					g.chr6:146625805G>A	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.1009G>A	chr6.hg19:g.146625805G>A	ENSP00000282753:p.Gly337Arg	0					GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000392299.2_Missense_Mutation_p.G337R	p.G337R			0	0	0	1.973144	Q13255	GRM1_HUMAN		3	1244	+		Ovarian(120;0.0387)	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	1	1	hg19	c.1009G>A	CCDS5209.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.389791	0.95988	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.06	6.06	0.98353	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.53249	1.67	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.999	P;D;D	0.97110	0.729;1.0;0.986	D	0.88521	0.3096	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	337;337;337	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	337	ENSP00000354896:G337R;ENSP00000376119:G337R;ENSP00000424095:G337R;ENSP00000282753:G337R;ENSP00000347437:G337R;ENSP00000425599:G337R	ENSP00000282753:G337R	G	+	1	0	0	GRM1	146667498	146667498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-12.982750	1	0.170000	NM_000838			24	24		152	148	1		1			0	0	40	0		9.999998e-01	0	0	0	0	0	0	24	152
GRM1	2911	broad.mit.edu	37	6	146678707	146678707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000282753.1	+	5	1714	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000392299.2_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	493					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)			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)		ATCGCTATGACTATGTGCACG	0.413																																						ENST00000282753.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(1477-1479)gaC>gaT		glutamate receptor, metabotropic 1							188.0	153.0	165.0					6																	146678707		2203	4300	6503	SO:0001819	synonymous_variant	2911	0	0					g.chr6:146678707C>T	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.1479C>T	chr6.hg19:g.146678707C>T		0					GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000392299.2_Silent_p.D493D	p.D493D			0	0	0	1.973144	Q13255	GRM1_HUMAN		5	1714	+		Ovarian(120;0.0387)	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	1	1	hg19	c.1479C>T	CCDS5209.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_000838			68	68		288	282	0		1			0	0	88	0		1	0	0	0	0	0	0	68	288
GRM1	2911	broad.mit.edu	37	6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000282753.1	+	7	2799	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000392299.2_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	855					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)			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)		ACCTCTGATGTTGTCCGCATG	0.532																																						ENST00000282753.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(2563-2565)gTt>gGt		glutamate receptor, metabotropic 1							76.0	63.0	67.0					6																	146720739		2203	4300	6503	SO:0001583	missense	2911	0	0					g.chr6:146720739T>G	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.2564T>G	chr6.hg19:g.146720739T>G	ENSP00000282753:p.Val855Gly	0					GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000392299.2_Missense_Mutation_p.V855G	p.V855G			0	0	0	1.973144	Q13255	GRM1_HUMAN		7	2799	+		Ovarian(120;0.0387)	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	1	1	hg19	c.2564T>G	CCDS5209.1	1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323425	0.41096	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88586	-2.38;-2.4;-2.4;-2.38;-2.38;-2.4	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.057513	0.64402	D	0.000001	D	0.84727	0.5536	M	0.79475	2.455	0.80722	D	1	B;P;P	0.39282	0.382;0.666;0.534	B;B;B	0.33339	0.149;0.162;0.149	D	0.87970	0.2736	10	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	855;855;855	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	855	ENSP00000354896:V855G;ENSP00000376119:V855G;ENSP00000424095:V855G;ENSP00000282753:V855G;ENSP00000347437:V855G;ENSP00000425599:V855G	ENSP00000282753:V855G	V	+	2	0	0	GRM1	146762432	146762432	1.000000	0.71417	0.099000	0.21106	0.977000	0.68977	6.169000	0.71913	2.169000	0.68431	0.477000	0.44152	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	0		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_000838			54	53		222	211	1		1			0	0	51	0		1	0	0	0	0	0	0	54	222
RAB32	10981	broad.mit.edu	37	6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	16					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)			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)		ggcggccgccgccccagcgcc	0.741																																						ENST00000367495.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				8						c.(46-48)Gcc>Acc		RAB32, member RAS oncogene family							14.0	15.0	15.0					6																	146865053		2195	4292	6487	SO:0001583	missense	10981	0	0					g.chr6:146865053G>A	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.46G>A	chr6.hg19:g.146865053G>A	ENSP00000356465:p.Ala16Thr	0						p.A16T	NM_006834.3	NP_006825.1	0	0	0	1.973144	Q13637	RAB32_HUMAN		1	225	+		Ovarian(120;0.142)		Missense_Mutation	SNP	ENST00000367495.3	1	1	hg19	c.46G>A	CCDS5210.1	1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341737	0.24339	.	.	ENSG00000118508	ENST00000367495	T	0.71934	-0.61	3.91	-2.18	0.07037	3.91	-2.18	0.07037	.	1.151740	0.06349	N	0.709584	T	0.18425	0.0442	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.03139	-1.1068	10	0.10636	T	0.68	-0.0129	0.2257	0.00173	0.2899:0.1442:0.2731:0.2929	.	16	Q13637	RAB32_HUMAN	T	16	ENSP00000356465:A16T	ENSP00000356465:A16T	A	+	1	0	0	RAB32	146906746	146906746	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.855000	0.04125	-0.315000	0.08773	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_006834			24	24		78	77	0		1	1		0	0	21	0		9.999999e-01	9.948618e-01	0	11	0	20	0	24	78
STXBP5	134957	broad.mit.edu	37	6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000321680.6	+	4	368	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R|STXBP5_ENST00000367481.3_Missense_Mutation_p.H123R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	123					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)			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)		GACACCTTACACTTATGGAAT	0.348																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(367-369)cAc>cGc		syntaxin binding protein 5 (tomosyn)							101.0	98.0	99.0					6																	147560343		2203	4300	6503	SO:0001583	missense	134957	0	0					g.chr6:147560343A>G	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.368A>G	chr6.hg19:g.147560343A>G	ENSP00000321826:p.His123Arg	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R|STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R	p.H123R	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		4	368	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.368A>G	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850609	0.91277	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.62364	1.74;5.19;1.74;0.03	5.33	5.33	0.75918	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.80845	-0.1200	10	0.56958	D	0.05	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	123;123	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	R	123	ENSP00000356451:H123R;ENSP00000441479:H123R;ENSP00000321826:H123R;ENSP00000356450:H123R	ENSP00000321826:H123R	H	+	2	0	0	STXBP5	147602036	147602036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.724000	0.91462	2.152000	0.67230	0.460000	0.39030	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				71	70		250	248	1		1	1		0	0	53	0		1	9.854902e-01	0	6	0	20	0	71	250
STXBP5	134957	broad.mit.edu	37	6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000321680.6	+	5	512	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A|STXBP5_ENST00000367481.3_Missense_Mutation_p.V171A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	171					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)			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)		ATTGTCAATGTGGAGTCCTTC	0.383																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(511-513)gTg>gCg		syntaxin binding protein 5 (tomosyn)							123.0	117.0	119.0					6																	147581831		2203	4300	6503	SO:0001583	missense	134957	0	0					g.chr6:147581831T>C	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.512T>C	chr6.hg19:g.147581831T>C	ENSP00000321826:p.Val171Ala	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A|STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A	p.V171A	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		5	512	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.512T>C	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715895	0.68844	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67171	1.49;4.94;1.49;-0.25	5.49	5.49	0.81192	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.58428	1.81	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.76071	0.987;0.864	T	0.76788	-0.2830	10	0.56958	D	0.05	.	15.585	0.76475	0.0:0.0:0.0:1.0	.	171;171	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	A	171	ENSP00000356451:V171A;ENSP00000441479:V171A;ENSP00000321826:V171A;ENSP00000356450:V171A	ENSP00000321826:V171A	V	+	2	0	0	STXBP5	147623524	147623524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.071000	0.62044	0.533000	0.62120	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				73	72		310	303	1		1	1		0	0	76	0		1	9.930423e-01	0	3	0	32	0	73	310
STXBP5	134957	broad.mit.edu	37	6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000321680.6	+	11	1129	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000367481.3_Missense_Mutation_p.D377N	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	377					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)			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)		AGTACTTATAGACCTTGCACA	0.313																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				42						c.(1129-1131)Gac>Aac		syntaxin binding protein 5 (tomosyn)							124.0	126.0	125.0					6																	147632647		2203	4299	6502	SO:0001583	missense	134957	0	0					g.chr6:147632647G>A	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.1129G>A	chr6.hg19:g.147632647G>A	ENSP00000321826:p.Asp377Asn	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N	p.D377N	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		11	1129	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.1129G>A	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.284916	0.95517	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27890	2.51;2.51;2.03;1.64	5.64	5.64	0.86602	5.64	5.64	0.86602	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.99;0.996	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:0.0:1.0:0.0	.	377;377;48	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	N	377;377;377;48	ENSP00000356451:D377N;ENSP00000321826:D377N;ENSP00000356450:D377N;ENSP00000179882:D48N	ENSP00000179882:D48N	D	+	1	0	0	STXBP5	147674340	147674340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.660000	0.90430	0.561000	0.74099	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				31	30		162	161	1		1	1		0	0	46	0		1	9.872502e-01	0	7	0	32	0	31	162
STXBP5	134957	broad.mit.edu	37	6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000321680.6	+	15	1546	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M|STXBP5_ENST00000367481.3_Missense_Mutation_p.L516M	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	516					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)			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)		AAGTAGAATGCTGTGCATCGC	0.388																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1546-1548)Ctg>Atg		syntaxin binding protein 5 (tomosyn)							160.0	151.0	154.0					6																	147636794		2203	4300	6503	SO:0001583	missense	134957	0	0					g.chr6:147636794C>A	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.1546C>A	chr6.hg19:g.147636794C>A	ENSP00000321826:p.Leu516Met	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M|STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M	p.L516M	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		15	1546	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.1546C>A	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966391	0.74131	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.74737	0.77;0.77;-0.87;-0.78	5.78	4.02	0.46733	5.78	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.997	T	0.83308	-0.0024	10	0.54805	T	0.06	.	12.5036	0.55970	0.0:0.8648:0.0:0.1352	.	516;516;187	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	M	516;516;516;187	ENSP00000356451:L516M;ENSP00000321826:L516M;ENSP00000356450:L516M;ENSP00000179882:L187M	ENSP00000179882:L187M	L	+	1	2	2	STXBP5	147678487	147678487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.802000	0.34089	0.563000	0.77884	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000				102	102		429	421	1		1	0		0	0	95	0		1	9.021737e-01	0	0	0	19	0	102	429
STXBP5	134957	broad.mit.edu	37	6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000321680.6	+	23	2486	c.2486T>C	c.(2485-2487)cTg>cCg	p.L829P	STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000367481.3_Missense_Mutation_p.L793P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	829					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)			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)		GTCATTGCACTGAACCTTCCC	0.483																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999553	0.990000	1.000000																										0				42						c.(2485-2487)cTg>cCg		syntaxin binding protein 5 (tomosyn)							116.0	101.0	106.0					6																	147680400		2203	4300	6503	SO:0001583	missense	134957	0	0					g.chr6:147680400T>C	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.2486T>C	chr6.hg19:g.147680400T>C	ENSP00000321826:p.Leu829Pro	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.L793P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P	p.L829P	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		23	2486	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.2486T>C	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.478563	0.84747	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.80616	2.505	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.66497	0.944;0.943;0.937	T	0.66160	-0.5993	10	0.87932	D	0	.	15.4235	0.75031	0.0:0.0:0.0:1.0	.	793;829;484	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	P	168;793;829;776;484;153	ENSP00000356451:L793P;ENSP00000321826:L829P;ENSP00000356450:L776P;ENSP00000179882:L484P;ENSP00000376112:L153P	ENSP00000179882:L484P	L	+	2	0	0	STXBP5	147722093	147722093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.047000	0.60756	0.529000	0.55759	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000				48	48		348	341	1		1	1		0	0	60	0		1	9.939774e-01	0	7	0	52	0	48	348
STXBP5	134957	broad.mit.edu	37	6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000321680.6	+	24	2549	c.2549C>T	c.(2548-2550)aCt>aTt	p.T850I	STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000367481.3_Missense_Mutation_p.T814I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	850					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)			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)		ATTTTAGGTACTATATTGAGG	0.333																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42						c.(2548-2550)aCt>aTt		syntaxin binding protein 5 (tomosyn)							34.0	37.0	36.0					6																	147684474		2200	4298	6498	SO:0001583	missense	134957	0	0					g.chr6:147684474C>T	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.2549C>T	chr6.hg19:g.147684474C>T	ENSP00000321826:p.Thr850Ile	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.T814I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I	p.T850I	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		24	2549	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.2549C>T	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066018	0.55539	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.101850	0.64402	D	0.000003	T	0.20740	0.0499	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.36222	0.465;0.544;0.544	B;B;B	0.34242	0.178;0.086;0.162	T	0.02411	-1.1163	10	0.35671	T	0.21	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	814;850;505	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	189;814;850;797;505;174	ENSP00000356451:T814I;ENSP00000321826:T850I;ENSP00000356450:T797I;ENSP00000179882:T505I;ENSP00000376112:T174I	ENSP00000179882:T505I	T	+	2	0	0	STXBP5	147726167	147726167	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.744000	0.55112	2.746000	0.94184	0.655000	0.94253	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				37	37		160	159	1		1	1		0	0	32	0		1	9.978397e-01	0	6	0	38	0	37	160
STXBP5	134957	broad.mit.edu	37	6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000321680.6	+	26	3107	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000367481.3_Missense_Mutation_p.P1000L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1036					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)			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)		CTCTTCACTCCTGTAGAAACA	0.353																																						ENST00000321680.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(3106-3108)cCt>cTt		syntaxin binding protein 5 (tomosyn)							117.0	116.0	116.0					6																	147694892		2203	4300	6503	SO:0001583	missense	134957	0	0					g.chr6:147694892C>T	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.3107C>T	chr6.hg19:g.147694892C>T	ENSP00000321826:p.Pro1036Leu	0					STXBP5_ENST00000367481.3_Missense_Mutation_p.P1000L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L	p.P1036L	NM_001127715.2	NP_001121187.1	0	0	0	1.973144	Q5T5C0	STXB5_HUMAN		26	3107	+		Ovarian(120;0.0164)	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	1	1	hg19	c.3107C>T	CCDS47499.1	1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472193	0.63737	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17854	2.33;2.25;2.45;2.89	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.46157	1.445	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.013;0.024;0.024	T	0.06588	-1.0818	10	0.28530	T	0.3	.	14.9973	0.71443	0.0:0.9298:0.0:0.0702	.	1000;1036;691	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	1000;1036;983;691	ENSP00000356451:P1000L;ENSP00000321826:P1036L;ENSP00000356450:P983L;ENSP00000179882:P691L	ENSP00000179882:P691L	P	+	2	0	0	STXBP5	147736585	147736585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.705000	0.92388	0.585000	0.79938	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-2.614670	1	0.170000				53	52		263	258	1		1	0		0	0	62	0		1	9.136967e-01	0	1	0	22	0	53	263
SASH1	23328	broad.mit.edu	37	6	148808758	148808758	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	212					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)			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)		AGCTCAAGGAATACGAGGCCC	0.483																																						ENST00000367467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(634-636)gaA>gaG		SAM and SH3 domain containing 1							97.0	103.0	101.0					6																	148808758		2203	4300	6503	SO:0001819	synonymous_variant	23328	0	0					g.chr6:148808758A>G	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.636A>G	chr6.hg19:g.148808758A>G		0						p.E212E	NM_015278.3	NP_056093.3	0	0	0	1.973144	O94885	SASH1_HUMAN		8	1111	+		Ovarian(120;0.0169)	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	1	1	hg19	c.636A>G	CCDS5212.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1		2	2	2	0		0	0	103		103	98	1	2.060000	-20.000000	1	0.170000	NM_015278			106	104		537	530	1		1	0		0	0	103	0		1	9.716120e-01	0	1	0	30	0	106	537
SASH1	23328	broad.mit.edu	37	6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	484					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)			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)		TGATGGAATGCCTGGCTCCCC	0.537																																						ENST00000367467.3	1.000000	0.430000	8.800000e-01	5.600000e-01	0.710000	0.723266	0.710000	1.000000																										0				52						c.(1450-1452)Cct>Act		SAM and SH3 domain containing 1							78.0	72.0	74.0					6																	148852683		2203	4300	6503	SO:0001583	missense	23328	0	0					g.chr6:148852683C>A	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.1450C>A	chr6.hg19:g.148852683C>A	ENSP00000356437:p.Pro484Thr	0						p.P484T	NM_015278.3	NP_056093.3	0	0	0	1.973144	O94885	SASH1_HUMAN		13	1925	+		Ovarian(120;0.0169)	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	1	1	hg19	c.1450C>A	CCDS5212.1	0	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519488	0.85495	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.051988	0.85682	D	0.000000	T	0.50786	0.1636	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.53034	-0.8495	10	0.66056	D	0.02	-16.1536	19.25	0.93921	0.0:1.0:0.0:0.0	.	465;484	Q6P4R9;O94885	.;SASH1_HUMAN	T	484;245	ENSP00000356437:P484T	ENSP00000356437:P484T	P	+	1	0	0	SASH1	148894376	148894376	1.000000	0.71417	0.171000	0.22900	0.073000	0.16967	4.652000	0.61454	2.560000	0.86352	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-19.908250	1	0.170000	NM_015278			18	18		278	269	0		1	0		0	0	81	0		9.999791e-01	7.787908e-01	0	1	0	45	0	18	278
SASH1	23328	broad.mit.edu	37	6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	511					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)			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)		TGTAGAAAGTCTTCGCAGTTC	0.512																																						ENST00000367467.3	1.000000	0.480000	1	6.300000e-01	0.800000	0.806297	0.800000	1.000000																										0				52						c.(1531-1533)Ctt>Att		SAM and SH3 domain containing 1							81.0	73.0	76.0					6																	148852764		2203	4300	6503	SO:0001583	missense	23328	0	0					g.chr6:148852764C>A	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.1531C>A	chr6.hg19:g.148852764C>A	ENSP00000356437:p.Leu511Ile	0						p.L511I	NM_015278.3	NP_056093.3	0	0	0	1.973144	O94885	SASH1_HUMAN		13	2006	+		Ovarian(120;0.0169)	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	1	1	hg19	c.1531C>A	CCDS5212.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.217478	0.95104	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53206	0.63	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.71206	2.165	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65541	-0.6143	10	0.54805	T	0.06	-14.2685	19.0299	0.92952	0.0:1.0:0.0:0.0	.	492;511	Q6P4R9;O94885	.;SASH1_HUMAN	I	511;272	ENSP00000356437:L511I	ENSP00000356437:L511I	L	+	1	0	0	SASH1	148894457	148894457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.503000	0.84419	0.655000	0.94253	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-19.769420	1	0.170000	NM_015278			16	16		215	214	0		1	0		0	0	50	0		9.999406e-01	7.403206e-01	0	0	0	37	0	16	215
SASH1	23328	broad.mit.edu	37	6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	869					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)			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)		ACCTGAAGTGCCACAGAAGAC	0.562																																						ENST00000367467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2605-2607)Cca>Tca		SAM and SH3 domain containing 1							115.0	127.0	123.0					6																	148865211		2203	4300	6503	SO:0001583	missense	23328	0	0					g.chr6:148865211C>T	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.2605C>T	chr6.hg19:g.148865211C>T	ENSP00000356437:p.Pro869Ser	0						p.P869S	NM_015278.3	NP_056093.3	0	0	0	1.973144	O94885	SASH1_HUMAN		18	3080	+		Ovarian(120;0.0169)	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	1	1	hg19	c.2605C>T	CCDS5212.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632371	0.29068	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37752	1.18	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.523656	0.21307	N	0.076714	T	0.18800	0.0451	L	0.51422	1.61	0.35065	D	0.761911	P;B	0.35077	0.483;0.278	B;B	0.27887	0.084;0.057	T	0.15636	-1.0430	10	0.59425	D	0.04	-14.3921	13.0516	0.58958	0.0:0.7884:0.2116:0.0	.	850;869	Q6P4R9;O94885	.;SASH1_HUMAN	S	869;630;279	ENSP00000356437:P869S	ENSP00000356437:P869S	P	+	1	0	0	SASH1	148906904	148906904	0.994000	0.37717	1.000000	0.80357	0.106000	0.19336	0.790000	0.26900	2.511000	0.84671	0.650000	0.86243	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1		2	2	2	0		0	0	274		274	271	1	2.060000	-20.000000	1	0.170000	NM_015278			238	235		1047	1029	1		1	1		0	0	274	0		1	9.995753e-01	0	7	0	44	0	238	1047
SASH1	23328	broad.mit.edu	37	6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1101					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)			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)		TGAAAACAAGCTGCACGCTGA	0.557																																						ENST00000367467.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997878	0.990000	1.000000																										0				52						c.(3301-3303)Ctg>Atg		SAM and SH3 domain containing 1							34.0	34.0	34.0					6																	148865907		2203	4300	6503	SO:0001583	missense	23328	0	0					g.chr6:148865907C>A	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.3301C>A	chr6.hg19:g.148865907C>A	ENSP00000356437:p.Leu1101Met	0						p.L1101M	NM_015278.3	NP_056093.3	0	0	0	1.973144	O94885	SASH1_HUMAN		18	3776	+		Ovarian(120;0.0169)	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	1	1	hg19	c.3301C>A	CCDS5212.1	1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622732	0.46840	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.59906	0.23	5.11	0.216	0.15258	5.11	0.216	0.15258	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.20986	0.625	0.33179	D	0.549298	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.12760	-1.0535	10	0.51188	T	0.08	-9.1589	6.814	0.23820	0.1209:0.5368:0.0:0.3422	.	1082;1101	Q6P4R9;O94885	.;SASH1_HUMAN	M	1101;511	ENSP00000356437:L1101M	ENSP00000356437:L1101M	L	+	1	2	2	SASH1	148907600	148907600	0.996000	0.38824	0.481000	0.27354	0.759000	0.43091	0.410000	0.21098	0.107000	0.17824	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-19.980860	1	0.170000	NM_015278			11	11		46	45	1		1	1		0	0	18	0		9.987747e-01	9.983211e-01	0	6	0	46	0	11	46
TAB2	23118	broad.mit.edu	37	6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	264					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|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 protein kinase activity (GO:0045860)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488																																						ENST00000367456.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(790-792)cCt>cAt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							179.0	163.0	168.0					6																	149699842		2203	4300	6503	SO:0001583	missense	23118	0	0					g.chr6:149699842C>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.791C>A	chr6.hg19:g.149699842C>A	ENSP00000356426:p.Pro264His	0					TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H	p.P264H			0	0	0	1.973144	Q9NYJ8	TAB2_HUMAN		4	1368	+			B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	1	1	hg19	c.791C>A	CCDS5214.1	1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037412	0.08148	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78481	-1.18;-1.09;-1.14;-1.14;-1.14	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.301553	0.37393	N	0.002105	T	0.55862	0.1947	L	0.29908	0.895	0.45076	D	0.998098	P;P	0.45283	0.855;0.855	B;B	0.37091	0.241;0.241	T	0.59573	-0.7429	10	0.13470	T	0.59	-7.5015	20.8598	0.99761	0.0:1.0:0.0:0.0	.	232;264	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	232;264;264;264;264	ENSP00000443206:P232H;ENSP00000376106:P264H;ENSP00000445752:P264H;ENSP00000356426:P264H;ENSP00000286332:P264H	ENSP00000286332:P264H	P	+	2	0	0	TAB2	149741535	149741535	0.999000	0.42202	0.416000	0.26546	0.002000	0.02628	5.594000	0.67557	2.937000	0.99478	0.650000	0.86243	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-3.233294	1	0.170000				135	127		649	631	1		1	1		0	0	134	0		1	1	0	48	0	195	0	135	649
LATS1	9113	broad.mit.edu	37	6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1			large tumor suppressor kinase 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)		TACTAGATCGCGATTTTTAAT	0.353																																						ENST00000543571.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(3373-3375)cGc>cAc		large tumor suppressor kinase 1							94.0	97.0	96.0					6																	149982884		2203	4299	6502	SO:0001583	missense	9113	0	0					g.chr6:149982884C>T	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.3374G>A	chr6.hg19:g.149982884C>T	ENSP00000437550:p.Arg1125His	0					LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	p.R1125H	NM_004690.3	NP_004681.1	0	0	0	1.973144				8	3921	-		Ovarian(120;0.0164)		Missense_Mutation	SNP	ENST00000543571.1	1	1	hg19	c.3374G>A	CCDS34551.1	1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348251	0.41599	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54479	0.57;0.57	5.65	4.76	0.60689	5.65	4.76	0.60689	.	0.131649	0.34700	N	0.003744	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10245	-1.0638	9	.	.	.	.	10.7066	0.45958	0.0:0.7956:0.1334:0.071	.	1125	O95835	LATS1_HUMAN	H	1125	ENSP00000437550:R1125H;ENSP00000253339:R1125H	.	R	-	2	0	0	LATS1	150024577	150024577	0.994000	0.37717	0.878000	0.34440	0.938000	0.57974	2.613000	0.46351	1.345000	0.45676	0.591000	0.81541	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_004690			72	71		432	425	1		1	1		0	0	109	0		1	9.665141e-01	0	7	0	28	0	72	432
PCMT1	5110	broad.mit.edu	37	6	150114741	150114741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000367380.5	+	5	561	c.354C>T	c.(352-354)gaC>gaT	p.D118D	RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000464889.1_Silent_p.D176D|PCMT1_ENST00000367384.2_Silent_p.D176D	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	118					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)			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)		TAGTAGATGACTCAGTAAATA	0.373																																						ENST00000367380.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(352-354)gaC>gaT		protein-L-isoaspartate (D-aspartate) O-methyltransferase							75.0	78.0	77.0					6																	150114741		2203	4299	6502	SO:0001819	synonymous_variant	5110	0	0					g.chr6:150114741C>T		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.354C>T	chr6.hg19:g.150114741C>T		0					PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000464889.1_Silent_p.D176D|RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367384.2_Silent_p.D176D|PCMT1_ENST00000367378.1_Silent_p.D176D	p.D118D	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	0	0	0	1.973144	P22061	PIMT_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.221)	5	561	+		Ovarian(120;0.0907)	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	1	1	hg19	c.354C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				47	46		212	206	1		1	1		0	0	47	0		1	1	0	101	0	274	0	47	212
RAET1L	154064	broad.mit.edu	37	6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	61	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507																																						ENST00000367341.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(181-183)ttT>ttG		retinoic acid early transcript 1L							110.0	94.0	100.0					6																	150343282		2199	4300	6499	SO:0001583	missense	154064	0	0					g.chr6:150343282A>C	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.183T>G	chr6.hg19:g.150343282A>C	ENSP00000356310:p.Phe61Leu	0					RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L	p.F61L			0	0	0	1.973144	Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	2	182	-		Ovarian(120;0.028)	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	1	1	hg19	c.183T>G	CCDS5224.1	1	.	.	.	.	.	.	.	.	.	.	a	12.84	2.058711	0.36277	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01295	5.04;5.04	1.91	0.704	0.18121	1.91	0.704	0.18121	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01730	0.0055	M	0.75264	2.295	0.09310	N	1	D	0.60575	0.988	P	0.58391	0.838	T	0.44314	-0.9336	9	0.72032	D	0.01	.	3.7235	0.08466	0.7951:0.0:0.2049:0.0	.	61	Q5VY80	RET1L_HUMAN	L	61	ENSP00000356310:F61L;ENSP00000286380:F61L	ENSP00000286380:F61L	F	-	3	2	2	RAET1L	150384975	150384975	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-1.225000	0.02956	0.196000	0.20367	0.402000	0.26972	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	0	0	1		2	2	2	0		0	0	120		120	171	1	2.060000	-20.000000	1	0.170000	NM_130900			104	81		482	412	0		1	0		0	0	120	0		1	1.493903e-01	0	1	0	3	0	104	482
IYD	389434	broad.mit.edu	37	6	150715331	150715331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	209					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438																																						ENST00000344419.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(625-627)gtC>gtT		iodotyrosine deiodinase							134.0	119.0	124.0					6																	150715331		2203	4300	6503	SO:0001819	synonymous_variant	389434	0	0					g.chr6:150715331C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.627C>T	chr6.hg19:g.150715331C>T		0					IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V	p.V209V	NM_203395.2	NP_981932.1	0	0	0	1.973144	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	4	767	+		Ovarian(120;0.028)	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	1	1	hg19	c.627C>T	CCDS5227.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	1		15	2	2	1		1	1	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_203395			60	60		339	335	1		1	1		1	0	99	0		1	1.696019e-01	0	3	0	2	0	60	339
PLEKHG1	57480	broad.mit.edu	37	6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517																																						ENST00000358517.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A287T(1)	central_nervous_system(1)	53						c.(859-861)Gcc>Acc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							83.0	76.0	78.0					6																	151125824		2203	4300	6503	SO:0001583	missense	57480	2	121412	32				g.chr6:151125824G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.859G>A	chr6.hg19:g.151125824G>A	ENSP00000351318:p.Ala287Thr	0					PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T	p.A287T			0	0	0	1.973144	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	7	1070	+			Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	1	1	hg19	c.859G>A	CCDS34552.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	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	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	0	PLEKHG1	151167517	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000				66	64		248	246	1		1	1		0	0	48	0		1	9.996869e-01	0	8	0	40	0	66	248
PLEKHG1	57480	broad.mit.edu	37	6	151139352	151139352	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000358517.2	+	11	1523	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	438							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGATGCCATTCGTAAGTTTTA	0.303																																						ENST00000358517.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				53						c.(1312-1314)Cat>Tat		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							135.0	136.0	136.0					6																	151139352		2203	4299	6502	SO:0001630	splice_region_variant	57480	0	0					g.chr6:151139352C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1312+1C>T	chr6.hg19:g.151139352C>T		0					PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y	p.H438Y			0	0	0	1.973144	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	11	1523	+			Q5T1F2	Splice_Site	SNP	ENST00000358517.2	1	0	hg19	c.1312C>T	CCDS34552.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887079	0.33348	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87334	-2.24;-2.24	5.08	3.3	0.37823	5.08	3.3	0.37823	Pleckstrin homology-type (1);	0.144593	0.64402	N	0.000007	T	0.65554	0.2702	L	0.27053	0.805	0.47276	D	0.999379	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.005;0.005	T	0.58803	-0.7572	10	0.26408	T	0.33	.	11.13	0.48341	0.0:0.7922:0.0:0.2078	.	245;438;438	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Y	438	ENSP00000356297:H438Y;ENSP00000351318:H438Y	ENSP00000351318:H438Y	H	+	1	0	0	PLEKHG1	151181045	151181045	0.956000	0.32656	0.996000	0.52242	0.935000	0.57460	1.891000	0.39738	0.660000	0.30964	-0.122000	0.15005	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.318955	1	0.170000		Missense_Mutation		50	49		327	322	1		1	0		0	0	62	0		1	9.659650e-01	0	1	0	37	0	50	327
PLEKHG1	57480	broad.mit.edu	37	6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000358517.2	+	14	1664	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	485							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCAGAAACAGCACAAGACAT	0.338																																						ENST00000358517.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000																										0				53						c.(1453-1455)Gca>Tca		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							88.0	86.0	87.0					6																	151144795		2202	4299	6501	SO:0001583	missense	57480	0	0					g.chr6:151144795G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1453G>T	chr6.hg19:g.151144795G>T	ENSP00000351318:p.Ala485Ser	0					PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S	p.A485S			0	0	0	1.973144	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	14	1664	+			Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	1	1	hg19	c.1453G>T	CCDS34552.1	1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175556	0.09391	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.42	-4.03	0.04021	5.42	-4.03	0.04021	.	1.159500	0.06084	N	0.662442	T	0.06371	0.0164	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.009	B;B;B	0.12156	0.002;0.007;0.007	T	0.11966	-1.0566	10	0.10111	T	0.7	.	5.5225	0.16941	0.4835:0.0:0.3012:0.2153	.	292;485;485	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	S	485	ENSP00000356297:A485S;ENSP00000351318:A485S	ENSP00000351318:A485S	A	+	1	0	0	PLEKHG1	151186488	151186488	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.132000	0.10467	-0.714000	0.04975	-0.140000	0.14226	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				30	30		163	159	1		1	1		0	0	40	0		1	9.935736e-01	0	4	0	42	0	30	163
PLEKHG1	57480	broad.mit.edu	37	6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000358517.2	+	16	4321	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1370							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATATTGTCCAGTCTCTAAGGG	0.373																																						ENST00000358517.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(4108-4110)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							76.0	78.0	77.0					6																	151161984		2203	4300	6503	SO:0001583	missense	57480	0	0					g.chr6:151161984G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4110G>T	chr6.hg19:g.151161984G>T	ENSP00000351318:p.Gln1370His	0					PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H	p.Q1370H			0	0	0	1.973144	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	16	4321	+			Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	1	1	hg19	c.4110G>T	CCDS34552.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135406	0.77662	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71461	-0.57;-0.57	5.7	4.82	0.62117	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.68952	2.095	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81629	-0.0846	10	0.87932	D	0	.	13.7983	0.63184	0.0749:0.0:0.9251:0.0	.	1177;1370	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1370	ENSP00000356297:Q1370H;ENSP00000351318:Q1370H	ENSP00000351318:Q1370H	Q	+	3	2	2	PLEKHG1	151203677	151203677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.369000	0.46134	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000				78	76		413	405	1		1	1		0	0	112	0		1	9.999684e-01	0	7	0	74	0	78	413
MTHFD1L	25902	broad.mit.edu	37	6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		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	623	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)			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)		GGACAGCCTCGCAGACATGAA	0.592																																						ENST00000367321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1867-1869)Gca>Aca		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							76.0	62.0	66.0					6																	151281474		2203	4300	6503	SO:0001583	missense	25902	0	0					g.chr6:151281474G>A	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.1867G>A	chr6.hg19:g.151281474G>A	ENSP00000356290:p.Ala623Thr	0						p.A623T	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	0	0	0	1.973144	Q6UB35	C1TM_HUMAN		18	2141	+		Ovarian(120;0.128)	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	1	1	hg19	c.1867G>A	CCDS5228.1	1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642014	0.29157	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.81	-11.6	0.00059	5.81	-11.6	0.00059	.	2.222680	0.01321	N	0.010929	T	0.04952	0.0133	L	0.52266	1.64	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.005	B;B;B	0.13407	0.007;0.009;0.005	T	0.15694	-1.0428	10	0.23302	T	0.38	.	4.4068	0.11413	0.1404:0.1292:0.5514:0.179	.	624;378;623	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	623	ENSP00000356290:A623T	ENSP00000356290:A623T	A	+	1	0	0	MTHFD1L	151323167	151323167	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-2.764000	0.00784	-3.388000	0.00173	0.460000	0.39030	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015440			39	39		167	166	1		1	1		0	0	40	0		1	1	0	40	0	97	0	39	167
AKAP12	9590	broad.mit.edu	37	6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000253332.1	+	3	2108	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N|AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	640					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)			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)		AAGGTCAAGAGCGCTACCTTG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000253332.1	0.830000	0.240000	6.600000e-01	3.500000e-01	0.490000	0.513051	0.490000	0.470000																										0				68						c.(1918-1920)aGc>aAc		A kinase (PRKA) anchor protein 12							80.0	76.0	77.0					6																	151671445		2203	4300	6503	SO:0001583	missense	9590	0	0					g.chr6:151671445G>A	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.1919G>A	chr6.hg19:g.151671445G>A	ENSP00000253332:p.Ser640Asn	0					AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N	p.S640N			0	0	0	1.973144	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	3	2108	+		Ovarian(120;0.125)	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	1	1	hg19	c.1919G>A	CCDS5229.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269256	0.80469	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15603	2.41;2.41;2.43;2.43	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.47093	D	0.000244	T	0.33265	0.0857	M	0.73962	2.25	0.42414	D	0.992611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.03969	-1.0988	10	0.54805	T	0.06	.	14.6536	0.68817	0.0:0.1452:0.8548:0.0	.	535;542;640	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	640;640;542;535	ENSP00000384537:S640N;ENSP00000253332:S640N;ENSP00000346702:S542N;ENSP00000352794:S535N	ENSP00000253332:S640N	S	+	2	0	0	AKAP12	151713138	151713138	0.998000	0.40836	0.872000	0.34217	0.818000	0.46254	2.910000	0.48766	2.591000	0.87537	0.650000	0.86243	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-11.393250	1	0.170000				9	9		210	206	0		1	1		0	0	48	0		9.940181e-01	9.894395e-01	0	3	0	185	0	9	210
AKAP12	9590	broad.mit.edu	37	6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000253332.1	+	3	2680	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T|AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					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.A831S(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)		TGTTGAAGACGCAGGGCCAAC	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000253332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A831S(1)	lung(1)	68						c.(2491-2493)Gca>Aca		A kinase (PRKA) anchor protein 12							86.0	97.0	93.0					6																	151672017		2203	4300	6503	SO:0001583	missense	9590	0	0					g.chr6:151672017G>A	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.2491G>A	chr6.hg19:g.151672017G>A	ENSP00000253332:p.Ala831Thr	0					AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T	p.A831T			0	0	0	1.973144	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	3	2680	+		Ovarian(120;0.125)	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	1	1	hg19	c.2491G>A	CCDS5229.1	1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792683	0.16327	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.9	-9.81	0.00487	4.9	-9.81	0.00487	.	1.928830	0.02486	N	0.089032	T	0.00936	0.0031	N	0.15975	0.35	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.10450	0.005;0.005;0.002	T	0.28902	-1.0029	10	0.12103	T	0.63	.	8.9057	0.35521	0.1667:0.0773:0.5969:0.1591	.	726;733;831	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	831;831;733;726	ENSP00000384537:A831T;ENSP00000253332:A831T;ENSP00000346702:A733T;ENSP00000352794:A726T	ENSP00000253332:A831T	A	+	1	0	0	AKAP12	151713710	151713710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.241000	0.08940	-2.735000	0.00382	-0.895000	0.02911	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000				152	150		760	749	1		1	1		0	0	164	0		1	1	0	18	0	179	0	152	760
AKAP12	9590	broad.mit.edu	37	6	151672727	151672727	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000253332.1	+	3	3390	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000359755.5_Silent_p.Q962Q|AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1067					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)			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)		ATGTGCTTCAGCCTGTGCAGA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000253332.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(3199-3201)caG>caA		A kinase (PRKA) anchor protein 12							48.0	52.0	50.0					6																	151672727		2203	4300	6503	SO:0001819	synonymous_variant	9590	0	0					g.chr6:151672727G>A	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.3201G>A	chr6.hg19:g.151672727G>A		0					AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q	p.Q1067Q			0	0	0	1.973144	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	3	3390	+		Ovarian(120;0.125)	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	1	1	hg19	c.3201G>A	CCDS5229.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000				60	57		234	228	1		1	1		0	0	60	0		1	1	0	6	0	150	0	60	234
ZBTB2	57621	broad.mit.edu	37	6	151687214	151687214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GCTGCCCATCGATGATGGGAG	0.567																																						ENST00000325144.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(985-987)atC>atT		zinc finger and BTB domain containing 2							115.0	107.0	110.0					6																	151687214		2203	4300	6503	SO:0001819	synonymous_variant	57621	0	0					g.chr6:151687214G>A	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.987C>T	chr6.hg19:g.151687214G>A		0						p.I329I	NM_020861.1	NP_065912.1	0	0	0	1.973144	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	3	1127	-			A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	1	1	hg19	c.987C>T	CCDS5231.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_020861			81	81		395	384	1		1	1		0	0	100	0		1	9.991338e-01	0	19	0	34	0	81	395
ZBTB2	57621	broad.mit.edu	37	6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GAAACAAGTTCTGGAGACAGC	0.582																																						ENST00000325144.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(613-615)Gaa>Taa		zinc finger and BTB domain containing 2							83.0	81.0	81.0					6																	151687588		2203	4300	6503	SO:0001587	stop_gained	57621	0	0					g.chr6:151687588C>A	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.613G>T	chr6.hg19:g.151687588C>A	ENSP00000323183:p.Glu205*	0						p.E205*	NM_020861.1	NP_065912.1	0	0	0	1.973144	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	3	753	-			A8K7C7|Q5SZ81|Q9P245	Nonsense_Mutation	SNP	ENST00000325144.4	0	1	hg19	c.613G>T	CCDS5231.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.272898	0.95429	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.47	0.54385	5.35	4.47	0.54385	.	0.222278	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4356	15.4909	0.75605	0.1394:0.8606:0.0:0.0	.	.	.	.	X	205	.	ENSP00000323183:E205X	E	-	1	0	0	ZBTB2	151729281	151729281	1.000000	0.71417	0.462000	0.27118	0.995000	0.86356	5.102000	0.64572	1.243000	0.43853	0.561000	0.74099	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-3.325929	1	0.170000	NM_020861			50	50		277	275	0		1	1		0	0	72	0		1	9.999367e-01	0	12	0	70	0	50	277
RMND1	55005	broad.mit.edu	37	6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	28					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTAACATTAGATGACCGATT	0.418																																						ENST00000367303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(82-84)Cta>Ata		required for meiotic nuclear division 1 homolog (S. cerevisiae)							74.0	65.0	68.0					6																	151766865		2203	4300	6503	SO:0001583	missense	55005	0	0					g.chr6:151766865G>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.82C>A	chr6.hg19:g.151766865G>T	ENSP00000356272:p.Leu28Ile	0					RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	p.L28I	NM_017909.2	NP_060379.2	0	0	0	1.973144	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	2	204	-		Ovarian(120;0.125)	A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	1	1	hg19	c.82C>A	CCDS5232.1	1	.	.	.	.	.	.	.	.	.	.	G	8.615	0.890054	0.17540	.	.	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.22	4.34	0.51931	5.22	4.34	0.51931	.	1.119980	0.06825	N	0.792876	T	0.16171	0.0389	N	0.14661	0.345	0.34761	D	0.732727	P;B	0.35982	0.531;0.165	B;B	0.38056	0.264;0.032	T	0.02208	-1.1195	10	0.35671	T	0.21	0.5621	12.0296	0.53390	0.0825:0.0:0.9175:0.0	.	28;28	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	28	ENSP00000356272:L28I	ENSP00000356272:L28I	L	-	1	2	2	RMND1	151808558	151808558	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.605000	0.24179	1.179000	0.42884	0.563000	0.77884	CTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_017909			63	63		275	271	0		1	1		0	0	72	0		1	9.981657e-01	0	9	0	35	0	63	275
ESR1	2099	broad.mit.edu	37	6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T	rs570661763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000206249.3	+	7	1792	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000427531.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	477	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CATATCCACCGAGTCCTGGAC	0.557																																						ENST00000206249.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1429-1431)cGa>cTa		estrogen receptor 1	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)						113.0	103.0	107.0					6																	152415580		2203	4300	6503	SO:0001583	missense	2099	0	0					g.chr6:152415580G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1430G>T	chr6.hg19:g.152415580G>T	ENSP00000206249:p.Arg477Leu	0					ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000427531.2_Intron	p.R477L	NM_000125.3	NP_000116.2	0	0	0	1.973144	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	7	1792	+		Ovarian(120;0.0448)	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	1	1	hg19	c.1430G>T	CCDS5234.1	1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975929	0.18736	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.43	5.43	0.79202	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.415582	0.26903	N	0.021920	D	0.84343	0.5451	N	0.11673	0.155	0.80722	D	1	B;B;P;P;B;B;B	0.46656	0.005;0.003;0.681;0.882;0.003;0.001;0.001	B;B;B;B;B;B;B	0.39465	0.011;0.004;0.105;0.3;0.009;0.002;0.004	D	0.87067	0.2157	10	0.08599	T	0.76	.	14.1322	0.65263	0.0:0.0:0.8499:0.1501	.	42;172;216;404;476;477;477	B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	L	477;477;365;477;477;216;405	ENSP00000405330:R477L;ENSP00000342630:R477L;ENSP00000415934:R365L;ENSP00000387500:R477L;ENSP00000206249:R477L;ENSP00000384064:R216L	ENSP00000206249:R477L	R	+	2	0	0	ESR1	152457273	152457273	0.915000	0.31059	0.948000	0.38648	0.986000	0.74619	2.868000	0.48436	2.555000	0.86185	0.555000	0.69702	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1	0	0	1		17	2	2	1		1	1	117		117	117	1	2.060000	-3.184859	1	0.170000				103	102		477	466	1		1	0		1	0	117	0		1	8.459629e-02	0	0	0	3	0	103	477
SYNE1	23345	broad.mit.edu	37	6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8497					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)		AGGATGATGGCTTTGCGGTGG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(25489-25491)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							98.0	95.0	96.0					6																	152457923		2203	4300	6503	SO:0001583	missense	23345	1	121412	32				g.chr6:152457923C>T	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.25489G>A	chr6.hg19:g.152457923C>T	ENSP00000356224:p.Ala8497Thr	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T	p.A8497T	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	141	26090	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.25489G>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812412	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000078	T	0.59702	0.2213	M	0.73598	2.24	0.51012	D	0.999903	D;D;D;D;P	0.60160	0.987;0.987;0.984;0.987;0.553	P;P;P;P;B	0.58660	0.843;0.843;0.757;0.843;0.256	T	0.59043	-0.7528	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	8497;8497;8449;8449;699	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8497;652;1143;8449;8497;8449;8109;3021;682;677;1442;675	ENSP00000356224:A8497T;ENSP00000441052:A652T;ENSP00000356226:A1143T;ENSP00000396024:A8449T;ENSP00000265368:A8497T;ENSP00000390975:A8449T;ENSP00000341887:A8109T;ENSP00000349276:A3021T;ENSP00000356220:A1442T;ENSP00000346701:A675T	ENSP00000265368:A8497T	A	-	1	0	0	SYNE1	152499616	152499616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.886000	0.63149	2.623000	0.88846	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_182961			67	64		351	342	1		1	1		0	0	98	0		1	9.998082e-01	0	3	0	65	0	67	351
SYNE1	23345	broad.mit.edu	37	6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8410					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)		TTGGGTTTCGGTACTATGCAG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(25228-25230)aCc>aTc		spectrin repeat containing, nuclear envelope 1							184.0	157.0	166.0					6																	152462355		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152462355G>A	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.25229C>T	chr6.hg19:g.152462355G>A	ENSP00000356224:p.Thr8410Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I	p.T8410I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	139	25830	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.25229C>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035821	0.54896	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54071	0.68;4.82;1.7;0.7;0.59;0.69;0.77;2.74;1.85;4.83	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000029	T	0.68026	0.2956	M	0.74881	2.28	0.40134	D	0.97675	D;D;D;D;B	0.71674	0.996;0.996;0.998;0.996;0.399	D;D;D;D;B	0.71414	0.94;0.94;0.973;0.94;0.265	T	0.64232	-0.6456	10	0.37606	T	0.19	.	20.1277	0.97990	0.0:0.0:1.0:0.0	.	8410;8410;8362;8362;612	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8410;565;1056;8362;8410;8362;8022;2934;595;590;1355;588	ENSP00000356224:T8410I;ENSP00000441052:T565I;ENSP00000356226:T1056I;ENSP00000396024:T8362I;ENSP00000265368:T8410I;ENSP00000390975:T8362I;ENSP00000341887:T8022I;ENSP00000349276:T2934I;ENSP00000356220:T1355I;ENSP00000346701:T588I	ENSP00000265368:T8410I	T	-	2	0	0	SYNE1	152504048	152504048	1.000000	0.71417	0.039000	0.18376	0.534000	0.34807	6.160000	0.71862	2.755000	0.94549	0.563000	0.77884	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_182961			96	95		491	485	1		1	1		0	0	95	0		1	9.999194e-01	0	2	0	69	0	96	491
SYNE1	23345	broad.mit.edu	37	6	152476174	152476174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000265368.4_Silent_p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					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)		ACGTCTCTTCGATTCTGGGGC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5	0.750000	0.340000	6.400000e-01	4.300000e-01	0.530000	0.542887	0.530000	0.520000																										0				524						c.(23980-23982)atC>atT		spectrin repeat containing, nuclear envelope 1							78.0	83.0	81.0					6																	152476174		2203	4300	6503	SO:0001819	synonymous_variant	23345	2	121412	35				g.chr6:152476174G>A	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.23982C>T	chr6.hg19:g.152476174G>A		0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000423061.1_Silent_p.I7923I	p.I7994I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	133	24583	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	1	1	hg19	c.23982C>T	CCDS5236.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-3.196410	1	0.170000	NM_182961			24	24		504	492	0		1	0		0	0	102	0		9.999996e-01	7.725142e-01	0	0	0	61	0	24	504
SYNE1	23345	broad.mit.edu	37	6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T	rs201895131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7947					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)		CACAGGTTGAGGACAGATGCA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(23839-23841)Ctc>Atc		spectrin repeat containing, nuclear envelope 1							140.0	126.0	131.0					6																	152477184		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152477184G>T	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.23839C>A	chr6.hg19:g.152477184G>T	ENSP00000356224:p.Leu7947Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I	p.L7947I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	132	24440	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.23839C>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738670	0.89573	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000072	T	0.69869	0.3159	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.968	T	0.72500	-0.4274	10	0.59425	D	0.04	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	7947;7947;7876;7876;149	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7947;102;593;7876;7947;7876;7559;2471;109;104;869;102	ENSP00000356224:L7947I;ENSP00000441052:L102I;ENSP00000356226:L593I;ENSP00000396024:L7876I;ENSP00000265368:L7947I;ENSP00000390975:L7876I;ENSP00000341887:L7559I;ENSP00000349276:L2471I;ENSP00000356220:L869I;ENSP00000346701:L102I	ENSP00000265368:L7947I	L	-	1	0	0	SYNE1	152518877	152518877	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.722000	0.68485	2.771000	0.95319	0.650000	0.86243	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.044019	1	0.170000	NM_182961			65	64		299	296	1		1	0		0	0	78	0		1	9.730488e-01	0	1	0	28	0	65	299
SYNE1	23345	broad.mit.edu	37	6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7885					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)		TGCACGGCTACCAGGGTCTCC	0.552										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(23653-23655)Gta>Ata		spectrin repeat containing, nuclear envelope 1							72.0	66.0	68.0					6																	152485435		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152485435C>T	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.23653G>A	chr6.hg19:g.152485435C>T	ENSP00000356224:p.Val7885Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I	p.V7885I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	131	24254	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.23653G>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	32	5.180579	0.94846	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56275	0.57;0.68;1.45;0.58;0.47;0.58;0.68;2.6;1.62;0.68	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000154	T	0.62233	0.2411	M	0.63428	1.95	0.80722	D	1	P;P;D;D;B	0.55605	0.673;0.673;0.965;0.972;0.215	B;P;P;P;B	0.62298	0.39;0.6;0.839;0.9;0.188	T	0.58423	-0.7639	10	0.37606	T	0.19	.	19.2685	0.93998	0.0:1.0:0.0:0.0	.	7885;7885;7814;7814;87	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7885;40;531;7814;7885;7814;7497;2409;47;42;807;40	ENSP00000356224:V7885I;ENSP00000441052:V40I;ENSP00000356226:V531I;ENSP00000396024:V7814I;ENSP00000265368:V7885I;ENSP00000390975:V7814I;ENSP00000341887:V7497I;ENSP00000349276:V2409I;ENSP00000356220:V807I;ENSP00000346701:V40I	ENSP00000265368:V7885I	V	-	1	0	0	SYNE1	152527128	152527128	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	4.041000	0.57339	2.555000	0.86185	0.585000	0.79938	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000	NM_182961			89	89		348	344	1		1	0		0	0	74	0		1	9.992308e-01	0	0	0	44	0	89	348
SYNE1	23345	broad.mit.edu	37	6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7847					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)		GCTTTCATGGCTGGCTTTAGC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(23539-23541)aGc>aTc		spectrin repeat containing, nuclear envelope 1							298.0	281.0	287.0					6																	152497616		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152497616C>A	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.23540G>T	chr6.hg19:g.152497616C>A	ENSP00000356224:p.Ser7847Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I	p.S7847I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	130	24141	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.23540G>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906876	0.92107	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	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	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.69823	2.125	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;0.999;1.0;1.0	T	0.67094	-0.5757	10	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	7847;7847;7776;7776;49	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7847;493;7776;7847;7776;7459;2371;9;769	ENSP00000356224:S7847I;ENSP00000356226:S493I;ENSP00000396024:S7776I;ENSP00000265368:S7847I;ENSP00000390975:S7776I;ENSP00000341887:S7459I;ENSP00000349276:S2371I;ENSP00000356220:S769I	ENSP00000265368:S7847I	S	-	2	0	0	SYNE1	152539309	152539309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.681000	0.84073	2.711000	0.92665	0.563000	0.77884	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-20.000000	1	0.170000	NM_182961			167	161		896	879	1		1	0		0	0	171	0		1	9.990563e-01	0	0	0	56	0	167	896
SYNE1	23345	broad.mit.edu	37	6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6327					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)		ATTTGGCCTGCTATAAAGCTG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.590000	9.900000e-01	7.100000e-01	0.840000	0.845239	0.840000	1.000000																										0				524						c.(18979-18981)aGc>aTc		spectrin repeat containing, nuclear envelope 1							136.0	120.0	125.0					6																	152577893		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152577893C>A	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.18980G>T	chr6.hg19:g.152577893C>A	ENSP00000356224:p.Ser6327Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I	p.S6327I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	102	19581	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.18980G>T	CCDS5236.2	0	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280586	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.53;0.65;2.55	5.29	4.42	0.53409	5.29	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.61080	0.981;0.981;0.989	P;P;P	0.58391	0.693;0.693;0.838	T	0.64373	-0.6423	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:0.9269:0.0:0.0731	.	6327;6327;6256	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6327;6256;6327;6256;5939;851	ENSP00000356224:S6327I;ENSP00000396024:S6256I;ENSP00000265368:S6327I;ENSP00000390975:S6256I;ENSP00000341887:S5939I;ENSP00000349276:S851I	ENSP00000265368:S6327I	S	-	2	0	0	SYNE1	152619586	152619586	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.296000	0.33389	1.354000	0.45846	0.650000	0.86243	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-8.624030	1	0.170000	NM_182961			33	33		420	415	0		1	0		0	0	95	0		1	5.386536e-01	0	1	0	23	0	33	420
SYNE1	23345	broad.mit.edu	37	6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5388					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)		ATGGTATAAAGACCTAAGTAC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				524						c.(16162-16164)Ctt>Att		spectrin repeat containing, nuclear envelope 1							104.0	98.0	100.0					6																	152642447		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152642447G>T	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.16162C>A	chr6.hg19:g.152642447G>T	ENSP00000356224:p.Leu5388Ile	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I	p.L5388I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	84	16763	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.16162C>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623989	0.46840	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57273	0.5;0.5;0.41;0.5;0.48	5.47	4.6	0.57074	5.47	4.6	0.57074	.	0.000000	0.50627	D	0.000102	T	0.49287	0.1548	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.45044	0.849;0.598;0.598;0.72	P;B;B;P	0.52217	0.693;0.411;0.411;0.616	T	0.52997	-0.8500	10	0.42905	T	0.14	.	9.3984	0.38417	0.0727:0.0:0.7852:0.1422	.	5388;5388;5388;5317	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5388;5317;5388;5317;5061	ENSP00000356224:L5388I;ENSP00000396024:L5317I;ENSP00000265368:L5388I;ENSP00000390975:L5317I;ENSP00000341887:L5061I	ENSP00000265368:L5388I	L	-	1	0	0	SYNE1	152684140	152684140	1.000000	0.71417	0.634000	0.29324	0.879000	0.50718	2.872000	0.48467	1.299000	0.44798	0.655000	0.94253	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_182961			38	38		172	173	1		1	0		0	0	43	0		1	6.694334e-01	0	0	0	12	0	38	172
SYNE1	23345	broad.mit.edu	37	6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T	rs184360743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5067					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)		TCTTCTTTGCCGGTTGGCTTG	0.522										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(15199-15201)Ggc>Agc		spectrin repeat containing, nuclear envelope 1							88.0	89.0	89.0					6																	152647525		2203	4300	6503	SO:0001583	missense	23345	1	121412	35				g.chr6:152647525C>T	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.15199G>A	chr6.hg19:g.152647525C>T	ENSP00000356224:p.Gly5067Ser	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S	p.G5067S	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	79	15800	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.15199G>A	CCDS5236.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.01	3.527783	0.64860	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.39	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.231634	0.30244	N	0.010061	T	0.27798	0.0684	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.58268	0.982;0.935;0.935;0.961	P;B;B;B	0.46076	0.503;0.238;0.238;0.418	T	0.02269	-1.1185	10	0.18710	T	0.47	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	5067;5067;5067;4996	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5067;4996;5067;4996;4814	ENSP00000356224:G5067S;ENSP00000396024:G4996S;ENSP00000265368:G5067S;ENSP00000390975:G4996S;ENSP00000341887:G4814S	ENSP00000265368:G5067S	G	-	1	0	0	SYNE1	152689218	152689218	0.994000	0.37717	0.514000	0.27761	0.811000	0.45836	6.047000	0.71038	2.621000	0.88768	0.591000	0.81541	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.093256	1	0.170000	NM_182961			74	71		293	284	1		1	0		0	0	84	0		1	8.604285e-01	0	1	0	15	0	74	293
SYNE1	23345	broad.mit.edu	37	6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4563					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)		ATGCTTCCTAGAAACCAAATT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(13687-13689)tCt>tAt		spectrin repeat containing, nuclear envelope 1							135.0	142.0	139.0					6																	152652132		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152652132G>T	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.13688C>A	chr6.hg19:g.152652132G>T	ENSP00000356224:p.Ser4563Tyr	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y	p.S4563Y	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	78	14289	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.13688C>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289456	0.40494	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.03	5.15	0.70609	6.03	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.49440	0.1557	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.956;0.956;0.98	T	0.55522	-0.8128	10	0.62326	D	0.03	.	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	4563;4563;4563;4492	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4563;4492;4563;4492	ENSP00000356224:S4563Y;ENSP00000396024:S4492Y;ENSP00000265368:S4563Y;ENSP00000390975:S4492Y	ENSP00000265368:S4563Y	S	-	2	0	0	SYNE1	152693825	152693825	1.000000	0.71417	0.868000	0.34077	0.993000	0.82548	8.062000	0.89475	1.544000	0.49359	0.655000	0.94253	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	173		173	173	1	2.060000	-20.000000	1	0.170000	NM_182961			177	175		772	754	1		1	0		0	0	173	0		1	3.869937e-01	0	0	0	7	0	177	772
SYNE1	23345	broad.mit.edu	37	6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C	rs376505187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4438					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)		ACTAAGTCACTGAGACAATTC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(13312-13314)Agt>Ggt		spectrin repeat containing, nuclear envelope 1							100.0	92.0	95.0					6																	152652508		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152652508T>C	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.13312A>G	chr6.hg19:g.152652508T>C	ENSP00000356224:p.Ser4438Gly	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G	p.S4438G	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	78	13913	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.13312A>G	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409322	0.25378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	3.48	0.39840	5.84	3.48	0.39840	.	0.334922	0.29355	N	0.012386	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.14805	0.011;0.003;0.003;0.005	B;B;B;B	0.15484	0.005;0.006;0.006;0.013	T	0.08289	-1.0729	10	0.15499	T	0.54	.	9.7803	0.40645	0.0:0.1377:0.0:0.8623	.	4438;4438;4438;4367	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4438;4367;4438;4367;4303	ENSP00000356224:S4438G;ENSP00000396024:S4367G;ENSP00000265368:S4438G;ENSP00000390975:S4367G;ENSP00000341887:S4303G	ENSP00000265368:S4438G	S	-	1	0	0	SYNE1	152694201	152694201	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	3.524000	0.53495	0.490000	0.27771	0.533000	0.62120	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_182961			72	72		293	288	1		1	0		0	0	67	0		1	8.512339e-01	0	0	0	16	0	72	293
SYNE1	23345	broad.mit.edu	37	6	152658135	152658135	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					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)		TCTGGGCCTGGACAAGCTTTT	0.423										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				524						c.(12367-12369)gtC>gtT		spectrin repeat containing, nuclear envelope 1							64.0	59.0	60.0					6																	152658135		2203	4300	6503	SO:0001819	synonymous_variant	23345	0	0					g.chr6:152658135G>A	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.12369C>T	chr6.hg19:g.152658135G>A		0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000423061.1_Silent_p.V4052V	p.V4123V	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	76	12970	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	1	1	hg19	c.12369C>T	CCDS5236.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-18.790230	1	0.170000	NM_182961			32	32		154	148	1		1	0		0	0	37	0		1	4.210193e-01	0	0	0	8	0	32	154
SYNE1	23345	broad.mit.edu	37	6	152673222	152673222	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152673222A>G	ENST00000367255.5	-	70	12121	c.11520T>C	c.(11518-11520)caT>caC	p.H3840H	SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.H3825H|SYNE1_ENST00000265368.4_Silent_p.H3840H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3840					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)		CTTCAGGAACATGTAGAATTT	0.378										HNSCC(10;0.0054)																												ENST00000367255.5	0.450000	0.160000	3.700000e-01	2.200000e-01	0.280000	0.299363	0.280000	0.280000																										0				524						c.(11518-11520)caT>caC		spectrin repeat containing, nuclear envelope 1							154.0	146.0	149.0					6																	152673222		2203	4300	6503	SO:0001819	synonymous_variant	23345	0	0					g.chr6:152673222A>G	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.11520T>C	chr6.hg19:g.152673222A>G		0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.H3840H|SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000423061.1_Silent_p.H3825H	p.H3840H	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	70	12121	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	0	1	hg19	c.11520T>C	CCDS5236.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.443051	1	0.170000	NM_182961			15	15		599	592	0		1	0		0	0	107	0		9.998610e-01	9.898455e-03	0	0	0	6	0	15	599
SYNE1	23345	broad.mit.edu	37	6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3571					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)		AGACTCTAAAGCCCGGTCCTC	0.547										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(10711-10713)gCt>gTt		spectrin repeat containing, nuclear envelope 1							130.0	134.0	132.0					6																	152676008		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152676008G>A	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.10712C>T	chr6.hg19:g.152676008G>A	ENSP00000356224:p.Ala3571Val	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V	p.A3571V	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	67	11313	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.10712C>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500083	0.26861	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.21	-0.531	0.11894	5.21	-0.531	0.11894	.	0.649919	0.13988	N	0.349005	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.40040	-0.9584	10	0.25106	T	0.35	.	9.6035	0.39619	0.5823:0.0:0.4177:0.0	.	3571;3571;3571;3578	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3571;3578;3571;3578;3542	ENSP00000356224:A3571V;ENSP00000396024:A3578V;ENSP00000265368:A3571V;ENSP00000390975:A3578V;ENSP00000341887:A3542V	ENSP00000265368:A3571V	A	-	2	0	0	SYNE1	152717701	152717701	0.000000	0.05858	0.066000	0.19879	0.993000	0.82548	0.116000	0.15561	0.018000	0.15052	0.555000	0.69702	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	166		166	165	1	2.060000	-20.000000	1	0.170000	NM_182961			152	149		683	669	1		1	0		0	0	166	0		1	3.025501e-01	0	0	0	6	0	152	683
SYNE1	23345	broad.mit.edu	37	6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3417					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)		CGCATGCTGCCTTTCTGATTC	0.483										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(10249-10251)aGg>aTg		spectrin repeat containing, nuclear envelope 1							134.0	119.0	124.0					6																	152683354		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152683354C>A	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.10250G>T	chr6.hg19:g.152683354C>A	ENSP00000356224:p.Arg3417Met	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M	p.R3417M	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	64	10851	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.10250G>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713306	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.28	4.39	0.52855	5.28	4.39	0.52855	.	0.096293	0.44285	D	0.000461	T	0.37461	0.1004	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	P;P;P;P	0.61800	0.786;0.786;0.786;0.894	T	0.22173	-1.0224	10	0.46703	T	0.11	.	10.8188	0.46593	0.0:0.8525:0.0:0.1475	.	3417;3417;3417;3424	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3417;3424;3417;3424	ENSP00000356224:R3417M;ENSP00000396024:R3424M;ENSP00000265368:R3417M;ENSP00000390975:R3424M	ENSP00000265368:R3417M	R	-	2	0	0	SYNE1	152725047	152725047	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	2.954000	0.49113	1.315000	0.45114	0.655000	0.94253	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.180923	1	0.170000	NM_182961			63	63		306	295	1		1	0		0	0	66	0		1	5.864536e-01	0	1	0	10	0	63	306
SYNE1	23345	broad.mit.edu	37	6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	rs146402274	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					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)		GATCCCTTTCGCTTTCTCTTT	0.398										HNSCC(10;0.0054)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		16120	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(9418-9420)gCg>gTg		spectrin repeat containing, nuclear envelope 1		G	VAL/ALA,VAL/ALA	4,4402	6.2+/-15.9	0,4,2199	164.0	170.0	168.0		9440,9419	6.0	1.0	6	dbSNP_134	168	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	64,64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	3147/8750,3140/8798	152694260	4,13002	2203	4300	6503	SO:0001583	missense	23345	9	121412	46				g.chr6:152694260G>A	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.9419C>T	chr6.hg19:g.152694260G>A	ENSP00000356224:p.Ala3140Val	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V	p.A3140V	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	59	10020	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.9419C>T	CCDS5236.2	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	G|G	11.51|11.51	1.658993|1.658993	0.29515|0.29515	9.08E-4|9.08E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|.	0.56411|.	0.1983|.	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29253|.	0.016;0.239;0.016;0.048|.	B;B;B;B|.	0.24269|.	0.006;0.052;0.006;0.013|.	T|.	0.50206|.	-0.8855|.	10|.	0.15066|.	T|.	0.55|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	V|X	3140;3147;3140;3147;3179|257	ENSP00000356224:A3140V;ENSP00000396024:A3147V;ENSP00000265368:A3140V;ENSP00000390975:A3147V;ENSP00000341887:A3179V|.	ENSP00000265368:A3140V|.	A|R	-|-	2|1	0|2	0|2	SYNE1|SYNE1	152735953|152735953	152735953|152735953	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.031000|0.031000	0.12232|0.12232	5.061000|5.061000	0.64319|0.64319	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	157		157	155	1	2.060000	-20.000000	1	0.170000	NM_182961			171	168		675	665	1		1	0		0	0	157	0		1	6.844131e-01	0	0	0	11	0	171	675
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A	rs549779256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3070					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)		AAGGCCTTTCGAAATCTTTGC	0.388										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				524						c.(9208-9210)Cga>Tga		spectrin repeat containing, nuclear envelope 1							76.0	79.0	78.0					6																	152697632		2203	4300	6503	SO:0001587	stop_gained	23345	3	121410	36				g.chr6:152697632G>A	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.9208C>T	chr6.hg19:g.152697632G>A	ENSP00000356224:p.Arg3070*	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*	p.R3070*	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	58	9809	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	0	1	hg19	c.9208C>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711637	0.89112	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	3.87	0.44632	5.71	3.87	0.44632	.	0.696895	0.13021	N	0.420059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.2997	0.66339	0.0:0.0:0.6123:0.3877	.	.	.	.	X	3070;3077;3070;3077;3109	.	ENSP00000265368:R3070X	R	-	1	2	2	SYNE1	152739325	152739325	1.000000	0.71417	0.880000	0.34516	0.904000	0.53231	4.425000	0.59875	0.714000	0.32081	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-19.999520	1	0.170000	NM_182961			45	45		235	232	1		1	0		0	0	56	0		1	5.001542e-01	0	0	0	10	0	45	235
SYNE1	23345	broad.mit.edu	37	6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T	rs371684437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					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)		TCTGTGAACTCGTGGACCGCA	0.393										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(8551-8553)Gag>Aag		spectrin repeat containing, nuclear envelope 1		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	189.0	177.0	181.0		8572,8551	5.5	0.8	6		181	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2858/8750,2851/8798	152706910	1,13005	2203	4300	6503	SO:0001583	missense	23345	1	121412	36				g.chr6:152706910C>T	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.8551G>A	chr6.hg19:g.152706910C>T	ENSP00000356224:p.Glu2851Lys	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K	p.E2851K	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	55	9152	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.8551G>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991900	0.54041	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56941	0.52;0.51;0.43;0.52;0.62	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.62744	0.2453	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.69479	0.883;0.922;0.922;0.964	T	0.56390	-0.7987	10	0.15952	T	0.53	.	19.4115	0.94675	0.0:1.0:0.0:0.0	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2851;2858;2851;2858;2890	ENSP00000356224:E2851K;ENSP00000396024:E2858K;ENSP00000265368:E2851K;ENSP00000390975:E2858K;ENSP00000341887:E2890K	ENSP00000265368:E2851K	E	-	1	0	0	SYNE1	152748603	152748603	1.000000	0.71417	0.840000	0.33206	0.050000	0.14768	7.463000	0.80869	2.599000	0.87857	0.591000	0.81541	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-3.076932	1	0.170000	NM_182961			99	96		534	526	1		1			0	0	125	0		1	0	0	0	0	0	0	99	534
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					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)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(5815-5817)atC>atT		spectrin repeat containing, nuclear envelope 1							108.0	105.0	106.0					6																	152737755		2203	4300	6503	SO:0001819	synonymous_variant	23345	0	0					g.chr6:152737755G>A	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.5817C>T	chr6.hg19:g.152737755G>A		0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000423061.1_Silent_p.I1946I	p.I1939I	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	41	6418	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	1	1	hg19	c.5817C>T	CCDS5236.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_182961			90	89		446	439	0		1	0		0	0	100	0		1	0	0	0	0	1	0	90	446
SYNE1	23345	broad.mit.edu	37	6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1856					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)		ACCTGGCTGGCCTCCTCAAAC	0.602										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(5566-5568)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							73.0	73.0	73.0					6																	152738006		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152738006C>T	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.5566G>A	chr6.hg19:g.152738006C>T	ENSP00000356224:p.Ala1856Thr	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T	p.A1856T	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	41	6167	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.5566G>A	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904732	0.72868	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.3	0.74995	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	T	0.41396	0.1157	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.62365	0.874;0.991;0.991;0.98	B;P;P;P	0.56960	0.223;0.78;0.78;0.81	T	0.32771	-0.9894	10	0.42905	T	0.14	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	1839;1856;1856;1863	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1856;1863;1856;1863;1893	ENSP00000356224:A1856T;ENSP00000396024:A1863T;ENSP00000265368:A1856T;ENSP00000390975:A1863T;ENSP00000341887:A1893T	ENSP00000265368:A1856T	A	-	1	0	0	SYNE1	152779699	152779699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	1.623000	0.50342	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.457028	1	0.170000	NM_182961			90	90		353	345	1		1	0		0	0	85	0		1	0	0	0	0	1	0	90	353
SYNE1	23345	broad.mit.edu	37	6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1657					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)		CTCACCTCTGCCAGTGGGCCA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				524						c.(4969-4971)tgG>tgT		spectrin repeat containing, nuclear envelope 1							190.0	199.0	196.0					6																	152749345		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152749345C>A	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.4971G>T	chr6.hg19:g.152749345C>A	ENSP00000356224:p.Trp1657Cys	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C	p.W1657C	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	37	5572	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.4971G>T	CCDS5236.2	1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639583	0.67244	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.71710	0.3372	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.72228	-0.4354	10	0.72032	D	0.01	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1640;1657;1657;1657;1664	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	C	1657;1664;1657;1664;1727;1657	ENSP00000356224:W1657C;ENSP00000396024:W1664C;ENSP00000265368:W1657C;ENSP00000390975:W1664C;ENSP00000341887:W1727C;ENSP00000356222:W1657C	ENSP00000265368:W1657C	W	-	3	0	0	SYNE1	152791038	152791038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0		2	2	2	0		0	0	317		317	316	1	2.060000	-20.000000	1	0.170000	NM_182961			224	217		1351	1331	1		1	0		0	0	317	0		1	0	0	0	0	1	0	224	1351
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					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)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5	0.350000	0.170000	3.000000e-01	2.000000e-01	0.250000	0.260265	0.250000	0.260000																										0				524						c.(4924-4926)aGg>aTg		spectrin repeat containing, nuclear envelope 1							194.0	198.0	196.0					6																	152749391		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152749391C>A	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.4925G>T	chr6.hg19:g.152749391C>A	ENSP00000356224:p.Arg1642Met	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M	p.R1642M	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	37	5526	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.4925G>T	CCDS5236.2	0	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259821	0.23051	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.87	-11.7	0.00046	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999998	B;P;P;P;P	0.39131	0.291;0.661;0.606;0.661;0.474	B;B;B;B;B	0.43575	0.125;0.155;0.424;0.155;0.333	T	0.54543	-0.8278	10	0.46703	T	0.11	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642M;ENSP00000396024:R1649M;ENSP00000265368:R1642M;ENSP00000390975:R1649M;ENSP00000341887:R1712M;ENSP00000356222:R1642M	ENSP00000265368:R1642M	R	-	2	0	0	SYNE1	152791084	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	1		2	2	2	0		0	0	284		284	281	1	2.060000	-2.220873	0	0.170000	NM_182961			31	30		1391	1363	0		1			0	0	284	0		1	0	0	0	0	0	0	31	1391
SYNE1	23345	broad.mit.edu	37	6	152757165	152757165	+	Silent	SNP	C	C	T	rs200370595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152757165C>T	ENST00000367255.5	-	33	4822	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P	SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000367248.3_Silent_p.P1397P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1407					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)		GGGGCCCAAGCGGTATCTCTG	0.403										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0					ENST00000367255.5	0.640000	0.240000	5.300000e-01	3.100000e-01	0.410000	0.429225	0.410000	0.410000																										0				524						c.(4219-4221)ccG>ccA		spectrin repeat containing, nuclear envelope 1							147.0	132.0	137.0					6																	152757165		2203	4300	6503	SO:0001819	synonymous_variant	23345	2	121412	37				g.chr6:152757165C>T	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.4221G>A	chr6.hg19:g.152757165C>T		0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000367248.3_Silent_p.P1397P|SYNE1_ENST00000423061.1_Silent_p.P1414P	p.P1407P	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	33	4822	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	1	1	hg19	c.4221G>A	CCDS5236.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.106695	1	0.170000	NM_182961			15	15		411	403	0		1	0		0	0	64	0		9.998577e-01	0	0	0	0	1	0	15	411
SYNE1	23345	broad.mit.edu	37	6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	900					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)		TATCTGCAATCTGTCTTTGTA	0.418										HNSCC(10;0.0054)																												ENST00000367255.5	1.000000	0.840000	1	9.800000e-01	0.990000	0.986071	0.990000	1.000000																										0				524						c.(2698-2700)caG>caT		spectrin repeat containing, nuclear envelope 1							160.0	138.0	145.0					6																	152777048		2203	4300	6503	SO:0001583	missense	23345	0	0					g.chr6:152777048C>A	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.2700G>T	chr6.hg19:g.152777048C>A	ENSP00000356224:p.Gln900His	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H	p.Q900H	NM_182961.3	NP_892006.3	0	0	0	1.973144	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	23	3301	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.2700G>T	CCDS5236.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581997|3.581997	0.65992|0.65992	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T|T;T;T;T;T;T;T;T	0.48836|0.35789	0.8|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.49|5.49	3.68|3.68	0.42216|0.42216	5.49|5.49	3.68|3.68	0.42216|0.42216	.|.	.|0.110333	.|0.39020	.|N	.|0.001484	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B;B	.|0.44195	.|0.472;0.002;0.828;0.654;0.771;0.002;0.006	.|B;B;P;B;P;B;B	.|0.47705	.|0.173;0.002;0.555;0.431;0.532;0.002;0.01	T|T	0.02966|0.02966	-1.1088|-1.1088	7|10	0.59425|0.48119	D|T	0.04|0.1	.|.	7.4634|7.4634	0.27308|0.27308	0.0:0.6963:0.1475:0.1562|0.0:0.6963:0.1475:0.1562	.|.	.|883;900;467;890;900;900;907	.|B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.;.;.	Y|H	952|900;907;900;907;900;890;900;467	ENSP00000341887:D952Y|ENSP00000356224:Q900H;ENSP00000396024:Q907H;ENSP00000265368:Q900H;ENSP00000390975:Q907H;ENSP00000356222:Q900H;ENSP00000356217:Q890H;ENSP00000414510:Q900H;ENSP00000438508:Q467H	ENSP00000341887:D952Y|ENSP00000265368:Q900H	D|Q	-|-	1|3	0|2	0|2	SYNE1|SYNE1	152818741|152818741	152818741|152818741	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.927000|0.927000	0.56198|0.56198	0.487000|0.487000	0.22356|0.22356	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GAT|CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_182961			41	41		373	364	0		1	0		0	0	55	0		1	0	0	0	0	1	0	41	373
FBXO5	26271	broad.mit.edu	37	6	153296625	153296625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296625A>G	ENST00000229758.3	-	2	293	c.235T>C	c.(235-237)Ttg>Ctg	p.L79L	FBXO5_ENST00000367241.3_Silent_p.L33L|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	79					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)			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)		GAACCTTCCAAATATGCAGGG	0.393																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000229758.3	0.550000	0.210000	4.600000e-01	2.800000e-01	0.360000	0.375479	0.360000	0.350000																										0				15						c.(235-237)Ttg>Ctg		F-box protein 5							117.0	121.0	119.0					6																	153296625		2203	4300	6503	SO:0001819	synonymous_variant	26271	0	0					g.chr6:153296625A>G	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.235T>C	chr6.hg19:g.153296625A>G		0					FBXO5_ENST00000367241.3_Silent_p.L33L|FBXO5_ENST00000477822.1_5'Flank	p.L79L	NM_012177.3	NP_036309.1	0	0	0	1.973144	Q9UKT4	FBX5_HUMAN		2	293	-		Ovarian(120;0.125)	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	1	1	hg19	c.235T>C	CCDS5242.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1	0	0	0		2	2	2	0		0	0	117		117	117	1	2.060000	-14.842810	1	0.170000				16	16		503	498	0		1	0		0	0	117	0		9.999292e-01	2.442252e-01	0	1	0	28	0	16	503
FBXO5	26271	broad.mit.edu	37	6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000229758.3	-	2	207	c.149A>G	c.(148-150)gAt>gGt	p.D50G	FBXO5_ENST00000367241.3_Missense_Mutation_p.D4G|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	50					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)			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)		ACAATTAAAATCACACTTCAT	0.353																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000229758.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(148-150)gAt>gGt		F-box protein 5							69.0	73.0	72.0					6																	153296711		2201	4298	6499	SO:0001583	missense	26271	0	0					g.chr6:153296711T>C	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.149A>G	chr6.hg19:g.153296711T>C	ENSP00000229758:p.Asp50Gly	0					FBXO5_ENST00000367241.3_Missense_Mutation_p.D4G|FBXO5_ENST00000477822.1_5'Flank	p.D50G	NM_012177.3	NP_036309.1	0	0	0	1.973144	Q9UKT4	FBX5_HUMAN		2	207	-		Ovarian(120;0.125)	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	1	1	hg19	c.149A>G	CCDS5242.1	1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341237	0.60963	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48836	0.8;0.93	5.4	1.63	0.23807	5.4	1.63	0.23807	.	0.275036	0.33650	N	0.004693	T	0.18002	0.0432	L	0.56769	1.78	0.25130	N	0.990574	B	0.17667	0.023	B	0.14578	0.011	T	0.24440	-1.0160	10	0.33940	T	0.23	-9.9826	5.0346	0.14428	0.0:0.2207:0.1443:0.635	.	50	Q9UKT4	FBX5_HUMAN	G	50;4	ENSP00000229758:D50G;ENSP00000356210:D4G	ENSP00000229758:D50G	D	-	2	0	0	FBXO5	153338404	153338404	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.468000	0.35332	0.045000	0.15804	0.533000	0.62120	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1	1	0	0		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000				77	74		299	295	1		1	1		0	0	106	0		1	8.110461e-01	0	2	0	12	0	77	299
MTRF1L	54516	broad.mit.edu	37	6	153315696	153315696	+	Silent	SNP	G	G	A	rs372750968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	213						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			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)		TAGTATGGACGCGGCCTTGCT	0.507																																						ENST00000367233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(637-639)cgC>cgT		mitochondrial translational release factor 1-like		G	,	2,4404	4.2+/-10.8	0,2,2201	183.0	159.0	168.0		639,639	4.1	1.0	6		168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	213/272,213/381	153315696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54516	6	121412	40				g.chr6:153315696G>A	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.639C>T	chr6.hg19:g.153315696G>A		0					MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000367231.5_Silent_p.R213R	p.R213R	NM_019041.5	NP_061914.3	0	0	0	1.973144	Q9UGC7	RF1ML_HUMAN		4	638	-		Ovarian(120;0.125)	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	1	1	hg19	c.639C>T	CCDS5243.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_019041			97	96		435	425	1		1	1		0	0	112	0		1	9.999978e-01	0	17	0	68	0	97	435
RGS17	26575	broad.mit.edu	37	6	153347642	153347642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	52					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.A52A(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)		TGGGTCTTCCCGCATTTTCCC	0.388																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A52A(1)	lung(1)	14						c.(154-156)gcG>gcA		regulator of G-protein signaling 17							326.0	240.0	269.0					6																	153347642		2203	4300	6503	SO:0001819	synonymous_variant	26575	1	121412	32				g.chr6:153347642C>T	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.156G>A	chr6.hg19:g.153347642C>T		0					RGS17_ENST00000206262.1_Silent_p.A52A	p.A52A			0	0	0	1.973144	Q9UGC6	RGS17_HUMAN		2	180	-		Ovarian(120;0.126)	Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	1	1	hg19	c.156G>A	CCDS5244.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-2.300790	0	0.170000				97	93		507	497	1		1	0		0	0	100	0		1	2.516985e-01	0	0	0	6	0	97	507
JARID2	3720	broad.mit.edu	37	6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	74					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)			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)				ATTAGGACCAGCATCAGAACA	0.463																																						ENST00000341776.2	0.520000	0.190000	4.300000e-01	2.500000e-01	0.330000	0.347934	0.330000	0.330000																										0				59						c.(220-222)Gca>Tca		jumonji, AT rich interactive domain 2							214.0	178.0	190.0					6																	15410493		2203	4300	6503	SO:0001583	missense	3720	0	0					g.chr6:15410493G>T	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.220G>T	chr6.hg19:g.15410493G>T	ENSP00000341280:p.Ala74Ser	0					JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	p.A74S	NM_004973.3	NP_004964.2	0	0	0	1.967613	Q92833	JARD2_HUMAN		3	464	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	1	1	hg19	c.220G>T	CCDS4533.1	0	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205312	0.58234	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.51574	0.7;1.41	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.272597	0.36482	N	0.002569	T	0.12561	0.0305	N	0.02539	-0.55	0.80722	D	1	P;B	0.35872	0.525;0.001	B;B	0.35182	0.197;0.003	T	0.15780	-1.0425	10	0.15499	T	0.54	-6.656	17.5186	0.87781	0.0:0.0:1.0:0.0	.	36;74	F5H590;Q92833	.;JARD2_HUMAN	S	74;36	ENSP00000341280:A74S;ENSP00000444623:A36S	ENSP00000341280:A74S	A	+	1	0	0	JARID2	15518472	15518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	2.579000	0.87056	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	0	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.306849	1	0.170000	NM_004973			14	14		478	473	0		1	0		0	0	122	0		9.997426e-01	1.351762e-01	0	0	0	21	0	14	478
RGS17	26575	broad.mit.edu	37	6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	31	Poly-Cys.				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)			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)		AACAGCACCAACAAAAGCAAC	0.507																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(91-93)tgT>tgG		regulator of G-protein signaling 17							167.0	159.0	162.0					6																	153365061		2203	4300	6503	SO:0001583	missense	26575	0	0					g.chr6:153365061A>C	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.93T>G	chr6.hg19:g.153365061A>C	ENSP00000356194:p.Cys31Trp	0					RGS17_ENST00000206262.1_Missense_Mutation_p.C31W	p.C31W			0	0	0	1.973144	Q9UGC6	RGS17_HUMAN		1	117	-		Ovarian(120;0.126)	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	1	1	hg19	c.93T>G	CCDS5244.1	1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747915	0.30955	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.55052	0.54;0.54	5.29	0.471	0.16752	5.29	0.471	0.16752	.	0.451574	0.30510	N	0.009476	T	0.59348	0.2187	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61603	-0.7029	10	0.45353	T	0.12	-13.2255	9.7424	0.40427	0.5062:0.0:0.4938:0.0	.	31	Q9UGC6	RGS17_HUMAN	W	31	ENSP00000356194:C31W;ENSP00000206262:C31W	ENSP00000206262:C31W	C	-	3	2	2	RGS17	153406754	153406754	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.100000	0.31025	-0.022000	0.13986	0.377000	0.23210	TGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2	1	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-20.000000	1	0.170000				124	122		594	586	1		1	0		0	0	175	0		1	8.034586e-02	0	0	0	3	0	124	594
JARID2	3720	broad.mit.edu	37	6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	172					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.S172I(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)				CTGCCCAACAGCATGGTGTAT	0.473																																						ENST00000341776.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999827	0.990000	1.000000																										1	Substitution - Missense(1)	p.S172I(1)	endometrium(1)	59						c.(514-516)aGc>aTc		jumonji, AT rich interactive domain 2							109.0	95.0	100.0					6																	15468794		2203	4300	6503	SO:0001583	missense	3720	0	0					g.chr6:15468794G>T	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.515G>T	chr6.hg19:g.15468794G>T	ENSP00000341280:p.Ser172Ile	0					JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	p.S172I	NM_004973.3	NP_004964.2	0	0	0	1.967613	Q92833	JARD2_HUMAN		5	759	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	1	1	hg19	c.515G>T	CCDS4533.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712770	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000541660	T;T	0.36157	1.27;1.27	4.94	1.69	0.24217	4.94	1.69	0.24217	.	0.209292	0.47852	D	0.000207	T	0.13157	0.0319	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49559	0.925;0.694;0.694	P;B;B	0.44990	0.466;0.368;0.189	T	0.03268	-1.1054	10	0.66056	D	0.02	-4.0147	5.499	0.16819	0.6353:0.0:0.3647:0.0	.	134;36;172	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	36;172;134	ENSP00000341280:S172I;ENSP00000444623:S134I	ENSP00000341280:S172I	S	+	2	0	0	JARID2	15576773	15576773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	0.504000	0.28082	0.650000	0.86243	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	1	0	1		2	2	2	0		0	0	76		76	72	1	2.060000	-18.339930	1	0.170000	NM_004973			40	40		258	245	1		1	1		0	0	76	0		1	9.734712e-01	0	10	0	30	0	40	258
OPRM1	4988	broad.mit.edu	37	6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T	rs371412870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000330432.7	+	3	921	c.684G>T	c.(682-684)tgG>tgT	p.W228C	OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	228					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398																																						ENST00000330432.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(682-684)tgG>tgT		opioid receptor, mu 1	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)						197.0	179.0	185.0					6																	154412127		1962	4177	6139	SO:0001583	missense	4988	0	0					g.chr6:154412127G>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.684G>T	chr6.hg19:g.154412127G>T	ENSP00000328264:p.Trp228Cys	0					OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C	p.W228C	NM_000914.3	NP_000905.3	0	0	0	1.973144	P35372	OPRM_HUMAN		3	921	+		Ovarian(120;0.196)	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	1	1	hg19	c.684G>T	CCDS55070.1	1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503709	0.64298	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;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;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.997;0.98;0.946;0.998;0.997;0.998;0.997;0.993	D;P;P;D;D;D;P;D;D;D;D;P	0.91635	0.999;0.887;0.887;0.999;0.936;0.932;0.886;0.936;0.932;0.927;0.936;0.887	T	0.52689	-0.8542	10	0.39692	T	0.17	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	228;228;228;228;321;147;128;228;228;228;228;228	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	321;128;147;228;228;228;228;228;228;228;228;228;228;128;128	ENSP00000394624:W321C;ENSP00000430876:W128C;ENSP00000430260:W147C;ENSP00000328264:W228C;ENSP00000353598:W228C;ENSP00000411903:W228C;ENSP00000410497:W228C;ENSP00000229768:W228C;ENSP00000403549:W228C;ENSP00000430097:W228C;ENSP00000399359:W228C;ENSP00000413752:W228C;ENSP00000338381:W228C;ENSP00000429719:W128C;ENSP00000429373:W128C	ENSP00000229768:W228C	W	+	3	0	0	OPRM1	154453820	154453820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	1	0	1		18	2	2	0		0	1	131		131	129	1	2.060000	-20.000000	1	0.170000	NM_000914			117	114		572	557	1		1			0	0	131	0		1	0	0	0	0	0	0	117	572
CNKSR3	154043	broad.mit.edu	37	6	154727608	154727608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000607772.1	-	13	2092	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	CNKSR3_ENST00000479339.1_Silent_p.T436T|CNKSR3_ENST00000433165.2_Silent_p.T341T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	516	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATGGAATCGTGGCGCTGC	0.587																																						ENST00000607772.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1546-1548)acG>acA		CNKSR family member 3							147.0	122.0	131.0					6																	154727608		2203	4300	6503	SO:0001819	synonymous_variant	154043	0	0					g.chr6:154727608C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1548G>A	chr6.hg19:g.154727608C>T		0					CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	p.T516T	NM_173515.2	NP_775786.2	0	0	0	1.973144	Q6P9H4	CNKR3_HUMAN		13	2092	-		Ovarian(120;0.196)	Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	1	1	hg19	c.1548G>A	CCDS5246.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_173515			104	100		533	522	1		1	1		0	0	116	0		1	9.856236e-01	0	11	0	25	0	104	533
JARID2	3720	broad.mit.edu	37	6	15497082	15497082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					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)			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)				CGGGCAAGGCCGAGAAGGGCG	0.647																																						ENST00000341776.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999586	0.990000	1.000000																										0				59						c.(1624-1626)gcC>gcT		jumonji, AT rich interactive domain 2							24.0	27.0	26.0					6																	15497082		2202	4298	6500	SO:0001819	synonymous_variant	3720	1	121252	36				g.chr6:15497082C>T	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.1626C>T	chr6.hg19:g.15497082C>T		0					JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	p.A542A	NM_004973.3	NP_004964.2	0	0	0	1.967613	Q92833	JARD2_HUMAN		7	1870	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	1	1	hg19	c.1626C>T	CCDS4533.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	1	0	1		2	2	2	0		0	0	27		27	23	1	2.060000	-20.000000	1	0.170000	NM_004973			27	26		160	147	1		1	1		0	0	27	0		9.999999e-01	8.747829e-01	0	3	0	21	0	27	160
CNKSR3	154043	broad.mit.edu	37	6	154743640	154743640	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945G>T	c.(943-945)caG>caT	p.Q315H	CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H|CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	315					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438																																						ENST00000607772.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(943-945)caG>caT		CNKSR family member 3							127.0	136.0	133.0					6																	154743640		2203	4300	6503	SO:0001630	splice_region_variant	154043	0	0					g.chr6:154743640C>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.945+1G>T	chr6.hg19:g.154743640C>A		0					CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H	p.Q315H	NM_173515.2	NP_775786.2	0	0	0	1.973144	Q6P9H4	CNKR3_HUMAN		9	1489	-		Ovarian(120;0.196)	Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	1	0	hg19	c.945G>T	CCDS5246.1	1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330836	0.60853	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.52983	1.22;0.64;0.64;0.76	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.54323	1.7	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.54016	-0.8356	9	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	315	Q6P9H4	CNKR3_HUMAN	H	90;315;140;235;77;140	ENSP00000356182:Q315H;ENSP00000414185:Q140H;ENSP00000418975:Q235H;ENSP00000406740:Q140H	.	Q	-	3	2	2	CNKSR3	154785332	154785332	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.416000	0.80143	2.656000	0.90262	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	1	0	1		2	2	2	0		0	0	169		169	168	1	2.060000	-3.422952	1	0.170000	NM_173515	Missense_Mutation		118	117		477	463	1		1	1		0	0	169	0		1	9.980872e-01	0	13	0	27	0	118	477
TIAM2	26230	broad.mit.edu	37	6	155465849	155465849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155465849G>T	ENST00000461783.3	+	8	3013	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	580	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		CTGTTCCAGAGCATCCCAAGA	0.463																																						ENST00000461783.3	0.410000	0.120000	3.300000e-01	1.700000e-01	0.240000	0.258683	0.240000	0.240000																										0				65						c.(1738-1740)gaG>gaT		T-cell lymphoma invasion and metastasis 2							150.0	138.0	142.0					6																	155465849		2203	4300	6503	SO:0001583	missense	26230	0	0					g.chr6:155465849G>T		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.1740G>T	chr6.hg19:g.155465849G>T	ENSP00000437188:p.Glu580Asp	0					TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D	p.E580D			0	0	0	1.973144	Q8IVF5	TIAM2_HUMAN		8	3013	+		Ovarian(120;0.196)	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	0	1	hg19	c.1740G>T	CCDS34558.1	0	.	.	.	.	.	.	.	.	.	.	g	17.28	3.348982	0.61183	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	-3.92	0.04155	5.81	-3.92	0.04155	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.988;0.993	T	0.77384	-0.2608	10	0.54805	T	0.06	.	14.7676	0.69651	0.5628:0.0:0.4372:0.0	.	580;580	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	D	580;826;580;580;580;580;580	ENSP00000437188:E580D;ENSP00000434901:E580D;ENSP00000407746:E580D;ENSP00000327315:E580D;ENSP00000353528:E580D;ENSP00000433348:E580D	ENSP00000327315:E580D	E	+	3	2	2	TIAM2	155507541	155507541	0.977000	0.34250	0.233000	0.24025	0.698000	0.40448	0.222000	0.17699	-0.729000	0.04875	-1.057000	0.02308	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.204781	1	0.170000	NM_012454			10	10		477	477	0		1			0	0	81	0		9.969411e-01	0	0	0	0	0	0	10	477
TIAM2	26230	broad.mit.edu	37	6	155572061	155572061	+	Silent	SNP	G	G	A	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000461783.3	+	24	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000529824.2_Silent_p.S1351S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1322					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)			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)		CAGAACTTTCGATGGGAGAGC	0.418																																						ENST00000461783.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3964-3966)tcG>tcA		T-cell lymphoma invasion and metastasis 2		G	,	1,4405	2.1+/-5.4	0,1,2202	164.0	156.0	158.0		741,3966	-10.6	0.7	6	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TIAM2	NM_001010927.2,NM_012454.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	247/627,1322/1702	155572061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26230	8	121412	43				g.chr6:155572061G>A		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.3966G>A	chr6.hg19:g.155572061G>A		0					TIAM2_ENST00000360366.4_Silent_p.S1346S|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000529824.2_Silent_p.S1351S	p.S1322S			0	0	0	1.973144	Q8IVF5	TIAM2_HUMAN		24	5239	+		Ovarian(120;0.196)	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	1	1	hg19	c.3966G>A	CCDS34558.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.423039	1	0.170000	NM_012454			114	113		497	492	1		1	0		0	0	122	0		1	5.838196e-01	0	1	0	9	0	114	497
NOX3	50508	broad.mit.edu	37	6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A	rs560159515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	288	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)			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)		TGTTGAAATCGCCAGAACCTA	0.363																																						ENST00000159060.2	1.000000	0.680000	1	8.300000e-01	0.990000	0.938064	0.990000	1.000000																										0				45						c.(862-864)Cga>Tga		NADPH oxidase 3							100.0	94.0	96.0					6																	155752006		2203	4300	6503	SO:0001587	stop_gained	50508	0	0					g.chr6:155752006G>A	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.862C>T	chr6.hg19:g.155752006G>A	ENSP00000159060:p.Arg288*	0						p.R288*	NM_015718.2	NP_056533.1	0	0	0	1.973144	Q9HBY0	NOX3_HUMAN		8	964	-		Breast(66;0.0183)	Q9HBJ9	Nonsense_Mutation	SNP	ENST00000159060.2	0	1	hg19	c.862C>T	CCDS5250.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.535245	0.97646	.	.	ENSG00000074771	ENST00000159060	.	.	.	5.86	4.97	0.65823	5.86	4.97	0.65823	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9666	13.3395	0.60537	0.0:0.0:0.5566:0.4434	.	.	.	.	X	288	.	ENSP00000159060:R288X	R	-	1	2	2	NOX3	155793698	155793698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	1.560000	0.49568	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-9.509459	1	0.170000				27	27		284	278	0		1			0	0	47	0		1	0	0	0	0	0	0	27	284
ARID1B	57492	broad.mit.edu	37	6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000350026.5	+	10	3042	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1027L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1014					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)			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)		CTGCCCCTGCCTCTCAAAGCA	0.498																																						ENST00000350026.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.998187	0.990000	1.000000																										0				81						c.(3040-3042)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							109.0	100.0	103.0					6																	157495196		2203	4296	6499	SO:0001583	missense	57492	0	0					g.chr6:157495196C>T	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.3041C>T	chr6.hg19:g.157495196C>T	ENSP00000055163:p.Pro1014Leu	0					ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1027L	p.P1014L	NM_017519.2	NP_059989.2	0	0	0	1.973144	Q8NFD5	ARI1B_HUMAN		10	3042	+		Breast(66;0.000162)|Ovarian(120;0.0265)	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	1	1	hg19	c.3041C>T	CCDS5251.2	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852213	0.71719	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.454996	0.24059	N	0.041940	T	0.44932	0.1317	L	0.36672	1.1	0.58432	D	0.999991	P;P;P;P	0.48764	0.465;0.915;0.617;0.465	B;P;B;B	0.45071	0.178;0.468;0.242;0.178	T	0.40213	-0.9575	10	0.39692	T	0.17	.	19.4168	0.94704	0.0:1.0:0.0:0.0	.	264;1014;1027;956	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1027;1014;1014;956;431;483;436;81	ENSP00000344546:P1027L;ENSP00000055163:P1014L;ENSP00000356116:P1014L;ENSP00000275248:P956L;ENSP00000412835:P483L;ENSP00000313006:P436L;ENSP00000383596:P81L	ENSP00000275248:P956L	P	+	2	0	0	ARID1B	157536888	157536888	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.976000	0.63785	2.601000	0.87937	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.142796	1	0.170000	NM_020732			34	34		250	245	1		1	1		0	0	84	0		1	9.996317e-01	0	15	0	76	0	34	250
ARID1B	57492	broad.mit.edu	37	6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000350026.5	+	12	3509	c.3508C>A	c.(3508-3510)Cct>Act	p.P1170T	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1183T|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1170					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)			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)		GCCGCCATCTCCTGGTAAGTG	0.632																																						ENST00000350026.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				81						c.(3508-3510)Cct>Act		AT rich interactive domain 1B (SWI1-like)							22.0	25.0	24.0					6																	157505566		2203	4295	6498	SO:0001583	missense	57492	0	0					g.chr6:157505566C>A	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.3508C>A	chr6.hg19:g.157505566C>A	ENSP00000055163:p.Pro1170Thr	0					ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1183T	p.P1170T	NM_017519.2	NP_059989.2	0	0	0	1.973144	Q8NFD5	ARI1B_HUMAN		12	3509	+		Breast(66;0.000162)|Ovarian(120;0.0265)	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	1	1	hg19	c.3508C>A	CCDS5251.2	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022586	0.93462	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.33865	4.49;4.48;4.5;4.52;4.15;2.07;1.39	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	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;0.997;0.999;0.999	T	0.51857	-0.8652	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	420;1170;1183;1165	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	1183;1170;1223;1165;640;692;645;237	ENSP00000344546:P1183T;ENSP00000055163:P1170T;ENSP00000356116:P1223T;ENSP00000275248:P1165T;ENSP00000412835:P692T;ENSP00000313006:P645T;ENSP00000383596:P237T	ENSP00000275248:P1165T	P	+	1	0	0	ARID1B	157547258	157547258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.793000	0.96121	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_020732			38	37		184	182	0		1	1		0	0	35	0		1	9.999998e-01	0	28	0	95	0	38	184
ARID1B	57492	broad.mit.edu	37	6	157522258	157522258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000350026.5	+	17	4492	c.4491C>T	c.(4489-4491)agC>agT	p.S1497S	ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000346085.5_Silent_p.S1510S|ARID1B_ENST00000275248.4_Silent_p.S1492S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1497	Pro-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)			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)		ATCATGAGAGCCAGTGGCCTT	0.607																																						ENST00000350026.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(4489-4491)agC>agT		AT rich interactive domain 1B (SWI1-like)							152.0	145.0	148.0					6																	157522258		2203	4296	6499	SO:0001819	synonymous_variant	57492	0	0					g.chr6:157522258C>T	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.4491C>T	chr6.hg19:g.157522258C>T		0					ARID1B_ENST00000275248.4_Silent_p.S1492S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000346085.5_Silent_p.S1510S	p.S1497S	NM_017519.2	NP_059989.2	0	0	0	1.973144	Q8NFD5	ARI1B_HUMAN		17	4492	+		Breast(66;0.000162)|Ovarian(120;0.0265)	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	1	1	hg19	c.4491C>T	CCDS5251.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-20.000000	1	0.170000	NM_020732			107	105		485	475	1		1	1		0	0	117	0		1	9.999999e-01	0	15	0	89	0	107	485
ARID1B	57492	broad.mit.edu	37	6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000350026.5	+	18	4871	c.4870T>C	c.(4870-4872)Tgg>Cgg	p.W1624R	ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W1637R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					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)			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)		TCCTGAGGCGTGGCGTGTGAT	0.403																																						ENST00000350026.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(4870-4872)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							538.0	542.0	541.0					6																	157525014		2203	4296	6499	SO:0001583	missense	57492	0	0					g.chr6:157525014T>C	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.4870T>C	chr6.hg19:g.157525014T>C	ENSP00000055163:p.Trp1624Arg	0					ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W1637R	p.W1624R	NM_017519.2	NP_059989.2	0	0	0	1.973144	Q8NFD5	ARI1B_HUMAN		18	4871	+		Breast(66;0.000162)|Ovarian(120;0.0265)	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	1	1	hg19	c.4870T>C	CCDS5251.2	1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288410	0.59976	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03386	4.36;4.4;4.33;4.37;3.95	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01084	-1.1457	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1624;1637;1619	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1637;1624;1677;1619;1146	ENSP00000344546:W1637R;ENSP00000055163:W1624R;ENSP00000356116:W1677R;ENSP00000275248:W1619R;ENSP00000412835:W1146R	ENSP00000275248:W1619R	W	+	1	0	0	ARID1B	157566706	157566706	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1		2	2	2	0		0	0	509		509	504	1	2.060000	-20.000000	1	0.170000	NM_020732			437	425		1786	1746	1		1	1		0	0	509	0		1	1	0	17	0	87	0	437	1786
ARID1B	57492	broad.mit.edu	37	6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000350026.5	+	19	5999	c.5998T>C	c.(5998-6000)Tgg>Cgg	p.W2000R	ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W2013R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					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)			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)		AGATGAGTGGTGGTGGGACTG	0.542																																						ENST00000350026.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(5998-6000)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							108.0	108.0	108.0					6																	157528312		2203	4296	6499	SO:0001583	missense	57492	0	0					g.chr6:157528312T>C	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.5998T>C	chr6.hg19:g.157528312T>C	ENSP00000055163:p.Trp2000Arg	0					ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W2013R	p.W2000R	NM_017519.2	NP_059989.2	0	0	0	1.973144	Q8NFD5	ARI1B_HUMAN		19	5999	+		Breast(66;0.000162)|Ovarian(120;0.0265)	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	1	1	hg19	c.5998T>C	CCDS5251.2	1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530980	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.055533	0.85682	D	0.000000	T	0.47040	0.1424	M	0.82630	2.6	0.80722	D	1	P;P;P	0.40931	0.733;0.687;0.687	B;B;B	0.42112	0.376;0.259;0.259	T	0.59705	-0.7404	10	0.87932	D	0	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	2000;2013;1995	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	2013;2000;2053;1995;1522	ENSP00000344546:W2013R;ENSP00000055163:W2000R;ENSP00000356116:W2053R;ENSP00000275248:W1995R;ENSP00000412835:W1522R	ENSP00000275248:W1995R	W	+	1	0	0	ARID1B	157570004	157570004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.247000	0.72411	2.117000	0.64856	0.460000	0.39030	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_020732			67	64		329	323	1		1	1		0	0	62	0		1	1	0	33	0	106	0	67	329
SNX9	51429	broad.mit.edu	37	6	158349734	158349734	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	430	BAR.				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)			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)		CTGCACGGGCCGTAAGTCCAC	0.597																																						ENST00000392185.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998370	0.990000	1.000000																										0				20						c.(1288-1290)Cca>Tca		sorting nexin 9							53.0	37.0	42.0					6																	158349734		2203	4299	6502	SO:0001630	splice_region_variant	51429	0	0					g.chr6:158349734C>T	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.1288+1C>T	chr6.hg19:g.158349734C>T		0						p.P430S	NM_016224.3	NP_057308.1	0	0	0	1.973144	Q9Y5X1	SNX9_HUMAN		12	1459	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Splice_Site	SNP	ENST00000392185.3	1	0	hg19	c.1288C>T	CCDS5253.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709995	0.30322	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.43688	0.94	4.89	4.89	0.63831	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38222	-0.9671	10	0.06365	T	0.9	-14.4141	18.0411	0.89319	0.0:1.0:0.0:0.0	.	430	Q9Y5X1	SNX9_HUMAN	S	430;430;230	ENSP00000376024:P430S	ENSP00000252631:P230S	P	+	1	0	0	SNX9	158269722	158269722	1.000000	0.71417	0.978000	0.43139	0.189000	0.23516	4.415000	0.59809	2.263000	0.75096	0.467000	0.42956	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-19.999910	1	0.170000		Missense_Mutation		13	13		60	60	1		1	1		0	0	14	0		9.997027e-01	1	0	23	0	371	0	13	60
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738					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)			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)		ATGAAGAAGTCTTCTATTTTG	0.333																																						ENST00000355585.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2212-2214)gtC>gtT		synaptojanin 2							111.0	104.0	106.0					6																	158495692		2203	4300	6503	SO:0001819	synonymous_variant	8871	0	0					g.chr6:158495692C>T	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.2214C>T	chr6.hg19:g.158495692C>T		0					SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	0	0	0	1.973144	O15056	SYNJ2_HUMAN		16	2289	+			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	1	1	hg19	c.2214C>T	CCDS5254.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				100	99		327	322	1		1	1		0	0	82	0		1	9.877703e-01	0	5	0	20	0	100	327
SYNJ2	8871	broad.mit.edu	37	6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	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)			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)		AGCGTTGAGGCCCCTCCTGTC	0.562																																						ENST00000355585.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(3820-3822)gCc>gTc		synaptojanin 2							56.0	60.0	59.0					6																	158516726		2203	4300	6503	SO:0001583	missense	8871	0	0					g.chr6:158516726C>T	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.3821C>T	chr6.hg19:g.158516726C>T	ENSP00000347792:p.Ala1274Val	0					SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V	p.A1274V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	0	0	0	1.973144	O15056	SYNJ2_HUMAN		27	3896	+			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	1	1	hg19	c.3821C>T	CCDS5254.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357158	0.24598	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92545	-3.04;-3.06;0.87	5.39	2.45	0.29901	5.39	2.45	0.29901	.	0.912726	0.09482	N	0.796209	T	0.70254	0.3203	N	0.19112	0.55	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.21151	0.033;0.033	T	0.59037	-0.7529	10	0.35671	T	0.21	.	5.2339	0.15436	0.257:0.5452:0.125:0.0729	.	669;1274	B4DLC4;O15056	.;SYNJ2_HUMAN	V	1229;1274;359	ENSP00000356089:A1229V;ENSP00000347792:A1274V;ENSP00000356079:A359V	ENSP00000347792:A1274V	A	+	2	0	0	SYNJ2	158436714	158436714	0.000000	0.05858	0.031000	0.17742	0.026000	0.11368	0.360000	0.20250	-0.230000	0.09840	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000				89	87		382	373	1		1	1		0	0	100	0		1	9.989521e-01	0	7	0	39	0	89	382
SERAC1	84947	broad.mit.edu	37	6	158549279	158549279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367104.3	-	10	1007	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367102.2_Silent_p.I292I|SERAC1_ENST00000367101.1_Silent_p.I292I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	292					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)			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)		CATTTGCTTCGATTTTATCAC	0.433																																						ENST00000367104.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(874-876)atC>atT		serine active site containing 1							138.0	134.0	135.0					6																	158549279		2203	4300	6503	SO:0001819	synonymous_variant	84947	2	121410	35				g.chr6:158549279G>A	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.876C>T	chr6.hg19:g.158549279G>A		0					SERAC1_ENST00000367101.1_Silent_p.I292I|SERAC1_ENST00000367102.2_Silent_p.I292I	p.I292I	NM_032861.3	NP_116250.3	0	0	0	1.973144	Q96JX3	SRAC1_HUMAN		10	1007	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	1	1	hg19	c.876C>T	CCDS5255.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-3.319148	1	0.170000	NM_032861			107	104		470	462	1		1	1		0	0	129	0		1	9.921740e-01	0	7	0	28	0	107	470
SERAC1	84947	broad.mit.edu	37	6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367104.3	-	8	815	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H|SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	228					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)			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)		ATGTAAAATACTGGATACACT	0.393																																						ENST00000367104.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(682-684)caG>caT		serine active site containing 1							128.0	123.0	125.0					6																	158564142		2203	4300	6503	SO:0001583	missense	84947	0	0					g.chr6:158564142C>A	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.684G>T	chr6.hg19:g.158564142C>A	ENSP00000356071:p.Gln228His	0					SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H|SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H	p.Q228H	NM_032861.3	NP_116250.3	0	0	0	1.973144	Q96JX3	SRAC1_HUMAN		8	815	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	1	1	hg19	c.684G>T	CCDS5255.1	1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319136	0.60524	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48201	0.82;0.82;0.82	5.79	3.09	0.35607	5.79	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.159951	0.56097	D	0.000022	T	0.48003	0.1476	M	0.63428	1.95	0.52501	D	0.999957	D	0.76494	0.999	D	0.66497	0.944	T	0.52034	-0.8629	10	0.87932	D	0	-11.4575	7.6555	0.28373	0.0:0.6056:0.0:0.3944	.	228	Q96JX3	SRAC1_HUMAN	H	228	ENSP00000356069:Q228H;ENSP00000356071:Q228H;ENSP00000356068:Q228H	ENSP00000356068:Q228H	Q	-	3	2	2	SERAC1	158484130	158484130	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.136000	0.31467	0.439000	0.26476	0.455000	0.32223	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_032861			65	65		276	271	1		1	1		0	0	92	0		1	9.836957e-01	0	4	0	26	0	65	276
SERAC1	84947	broad.mit.edu	37	6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T	rs199580632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367104.3	-	5	472	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	114					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)			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)		AAATGGATTCCGCAGTATCTT	0.338													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0					ENST00000367104.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				15						c.(340-342)cGg>cAg		serine active site containing 1							157.0	125.0	136.0					6																	158569911		2203	4300	6503	SO:0001583	missense	84947	3	121408	34				g.chr6:158569911C>T	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.341G>A	chr6.hg19:g.158569911C>T	ENSP00000356071:p.Arg114Gln	0					SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	p.R114Q	NM_032861.3	NP_116250.3	0	0	0	1.973144	Q96JX3	SRAC1_HUMAN		5	472	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	1	1	hg19	c.341G>A	CCDS5255.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.225	0.803387	0.16397	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.63417	-0.04;-0.04;-0.04	5.61	0.821	0.18799	5.61	0.821	0.18799	.	0.420066	0.27219	N	0.020379	T	0.36276	0.0961	M	0.68317	2.08	0.18873	N	0.999982	B	0.20671	0.047	B	0.10450	0.005	T	0.36040	-0.9764	10	0.28530	T	0.3	-3.3088	9.8395	0.40991	0.0:0.6572:0.0:0.3428	.	114	Q96JX3	SRAC1_HUMAN	Q	114	ENSP00000356069:R114Q;ENSP00000356071:R114Q;ENSP00000356068:R114Q	ENSP00000356068:R114Q	R	-	2	0	0	SERAC1	158489899	158489899	0.686000	0.27661	0.081000	0.20488	0.354000	0.29330	0.546000	0.23284	1.379000	0.46325	0.585000	0.79938	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-2.905229	1	0.170000	NM_032861			30	30		151	147	1		1	1		0	0	32	0		1	9.788638e-01	0	6	0	28	0	30	151
SERAC1	84947	broad.mit.edu	37	6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367104.3	-	2	144	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	5					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)			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)		ACGCAATAAGCAGCCAGGGAC	0.378																																						ENST00000367104.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(13-15)Gct>Act		serine active site containing 1							104.0	102.0	103.0					6																	158579383		2203	4300	6503	SO:0001583	missense	84947	1	121412	28				g.chr6:158579383C>T	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.13G>A	chr6.hg19:g.158579383C>T	ENSP00000356071:p.Ala5Thr	0					SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	p.A5T	NM_032861.3	NP_116250.3	0	0	0	1.973144	Q96JX3	SRAC1_HUMAN		2	144	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	1	1	hg19	c.13G>A	CCDS5255.1	1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884059	0.72410	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.92	0.45320	4.79	3.92	0.45320	.	0.217298	0.47852	D	0.000220	T	0.32585	0.0834	M	0.73598	2.24	0.45733	D	0.998636	P	0.49635	0.926	P	0.46917	0.531	T	0.17258	-1.0375	10	0.87932	D	0	-13.9732	7.8583	0.29495	0.1606:0.752:0.0:0.0874	.	5	Q96JX3	SRAC1_HUMAN	T	5	ENSP00000356069:A5T;ENSP00000356071:A5T;ENSP00000356068:A5T	ENSP00000356068:A5T	A	-	1	0	0	SERAC1	158499371	158499371	0.998000	0.40836	0.977000	0.42913	0.996000	0.88848	0.717000	0.25851	-0.016000	0.14127	0.460000	0.39030	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_032861			56	56		279	272	1		1	1		0	0	79	0		1	9.677672e-01	0	6	0	24	0	56	279
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	RP11-732M18.3_ENST00000432358.1_lincRNA|TULP4_ENST00000367094.2_Silent_p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					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)			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)		GTGAGAAGGAGAAGCCTGTGT	0.572																																						ENST00000367097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(94-96)gaG>gaA		tubby like protein 4							96.0	81.0	86.0					6																	158735144		2203	4300	6503	SO:0001819	synonymous_variant	56995	0	0					g.chr6:158735144G>A		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.96G>A	chr6.hg19:g.158735144G>A		0					TULP4_ENST00000367094.2_Silent_p.E32E|RP11-732M18.3_ENST00000432358.1_lincRNA	p.E32E	NM_020245.4	NP_064630.2	0	0	0	1.973144	Q9NRJ4	TULP4_HUMAN		1	1453	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	1	1	hg19	c.96G>A	CCDS34561.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.443647	1	0.170000	NM_020245			56	55		220	216	1		1	1		0	0	34	0		1	9.592653e-01	0	5	0	18	0	56	220
TULP4	56995	broad.mit.edu	37	6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	232					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)			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)		GAGAGCGACACGGACTCAGAT	0.577																																						ENST00000367097.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				49						c.(694-696)aCg>aTg		tubby like protein 4							169.0	137.0	147.0					6																	158870179		2203	4300	6503	SO:0001583	missense	56995	0	0					g.chr6:158870179C>T		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.695C>T	chr6.hg19:g.158870179C>T	ENSP00000356064:p.Thr232Met	0					TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	p.T232M	NM_020245.4	NP_064630.2	0	0	0	1.973144	Q9NRJ4	TULP4_HUMAN		4	2052	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	1	1	hg19	c.695C>T	CCDS34561.1	1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520788	0.64747	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03607	3.87;3.87	5.29	5.29	0.74685	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108926	0.64402	D	0.000008	T	0.01940	0.0061	L	0.51422	1.61	0.36864	D	0.888589	P;B;P	0.40534	0.487;0.145;0.72	B;B;B	0.25759	0.015;0.035;0.063	T	0.58228	-0.7673	10	0.31617	T	0.26	-24.0194	18.9309	0.92564	0.0:1.0:0.0:0.0	.	232;232;232	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	M	232	ENSP00000356064:T232M;ENSP00000356061:T232M	ENSP00000356061:T232M	T	+	2	0	0	TULP4	158790167	158790167	1.000000	0.71417	0.413000	0.26509	0.981000	0.71138	5.921000	0.70028	2.484000	0.83849	0.563000	0.77884	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_020245			63	60		375	364	1		1	1		0	0	119	0		1	9.231776e-01	0	3	0	25	0	63	375
TULP4	56995	broad.mit.edu	37	6	158900854	158900854	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	366	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)			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)		CAGCCCTGTACGTGGTGCGTG	0.617																																						ENST00000367097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1096-1098)taC>taT		tubby like protein 4							92.0	78.0	83.0					6																	158900854		2203	4300	6503	SO:0001819	synonymous_variant	56995	5	121412	37				g.chr6:158900854C>T		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.1098C>T	chr6.hg19:g.158900854C>T		0					TULP4_ENST00000367094.2_Silent_p.Y366Y	p.Y366Y	NM_020245.4	NP_064630.2	0	0	0	1.973144	Q9NRJ4	TULP4_HUMAN		7	2455	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	1	1	hg19	c.1098C>T	CCDS34561.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_020245			67	67		326	320	1		1	1		0	0	72	0		1	9.192237e-01	0	2	0	21	0	67	326
TULP4	56995	broad.mit.edu	37	6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	927					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)			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)		CACCTTGAGGCTCACGGCCAC	0.687																																						ENST00000367097.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2779-2781)Ctc>Ttc		tubby like protein 4							61.0	65.0	64.0					6																	158923474		2203	4300	6503	SO:0001583	missense	56995	0	0					g.chr6:158923474C>T		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.2779C>T	chr6.hg19:g.158923474C>T	ENSP00000356064:p.Leu927Phe	0					TULP4_ENST00000367094.2_Intron	p.L927F	NM_020245.4	NP_064630.2	0	0	0	1.973144	Q9NRJ4	TULP4_HUMAN		13	4136	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	1	1	hg19	c.2779C>T	CCDS34561.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999019	0.35226	.	.	ENSG00000130338	ENST00000367097	T	0.63255	-0.03	4.82	2.89	0.33648	4.82	2.89	0.33648	.	0.189697	0.46758	D	0.000263	T	0.34571	0.0902	L	0.40543	1.245	0.80722	D	1	P	0.35383	0.498	B	0.33620	0.167	T	0.42050	-0.9474	10	0.87932	D	0	-24.6158	8.4255	0.32727	0.3675:0.4241:0.2084:0.0	.	927	Q9NRJ4	TULP4_HUMAN	F	927	ENSP00000356064:L927F	ENSP00000356064:L927F	L	+	1	0	0	TULP4	158843462	158843462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.231000	0.43009	1.140000	0.42260	0.561000	0.74099	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_020245			84	81		406	397	0		1	0		0	0	109	0		1	7.865549e-01	0	0	0	16	0	84	406
SYTL3	94120	broad.mit.edu	37	6	159084345	159084345	+	Silent	SNP	C	C	T	rs200370553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Silent_p.R15R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	15	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.R15R(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)		AGTTAGAACGCGAGGCCATTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.0					ENST00000297239.9	1.000000	0.660000	1	8.200000e-01	0.990000	0.932294	0.990000	1.000000																										1	Substitution - coding silent(1)	p.R15R(1)	endometrium(1)	20						c.(43-45)cgC>cgT		synaptotagmin-like 3							86.0	74.0	78.0					6																	159084345		2203	4300	6503	SO:0001819	synonymous_variant	94120	1	121412	33				g.chr6:159084345C>T	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.45C>T	chr6.hg19:g.159084345C>T		0					SYTL3_ENST00000360448.3_Silent_p.R15R|SYTL3_ENST00000367081.3_5'UTR	p.R15R			0	0	0	1.973144	Q4VX76	SYTL3_HUMAN		3	239	+		Breast(66;0.000776)|Ovarian(120;0.0303)	Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	1	1	hg19	c.45C>T	CCDS56458.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.318794	1	0.170000				24	23		254	250	0		1	0		0	0	55	0		9.999997e-01	6.107869e-01	0	1	0	22	0	24	254
SYTL3	94120	broad.mit.edu	37	6	159178308	159178308	+	Silent	SNP	G	G	A	rs372238021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000367081.3_Silent_p.T127T|SYTL3_ENST00000360448.3_Silent_p.T333T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	401	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			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)		ATCTGGGCACGCTGGCCCGGA	0.617																																						ENST00000297239.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1201-1203)acG>acA		synaptotagmin-like 3		T	,,,	0,4406		0,0,2203	53.0	47.0	49.0		999,1203,1203,999	-7.0	0.0	6		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	333/543,401/611,401/611,333/543	159178308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94120	2	121412	31				g.chr6:159178308G>A	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.1203G>A	chr6.hg19:g.159178308G>A		0					SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T	p.T401T			0	0	0	1.973144	Q4VX76	SYTL3_HUMAN		13	1397	+		Breast(66;0.000776)|Ovarian(120;0.0303)	Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	1	1	hg19	c.1203G>A	CCDS56458.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-3.439049	1	0.170000				42	41		178	176	1		1	1		0	0	38	0		1	9.992836e-01	0	7	0	42	0	42	178
SYTL3	94120	broad.mit.edu	37	6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N|SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	423					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			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)		TTTGAAGACAGCACAACACAG	0.557																																						ENST00000297239.9	1.000000	0.480000	8.800000e-01	5.900000e-01	0.720000	0.741097	0.720000	1.000000																										0				20						c.(1267-1269)aGc>aAc		synaptotagmin-like 3							98.0	83.0	88.0					6																	159178373		2203	4300	6503	SO:0001583	missense	94120	0	0					g.chr6:159178373G>A	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.1268G>A	chr6.hg19:g.159178373G>A	ENSP00000297239:p.Ser423Asn	0					SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N	p.S423N			0	0	0	1.973144	Q4VX76	SYTL3_HUMAN		13	1462	+		Breast(66;0.000776)|Ovarian(120;0.0303)	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	1	1	hg19	c.1268G>A	CCDS56458.1	0	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394752	0.42512	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.62941	3.15;3.15;-0.01	5.07	2.29	0.28610	5.07	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.697915	0.14583	N	0.310734	T	0.28732	0.0712	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.017;0.03	B;B;B	0.15484	0.01;0.007;0.013	T	0.22661	-1.0210	10	0.12766	T	0.61	.	7.9026	0.29744	0.4606:0.0:0.5394:0.0	.	149;423;355	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	355;423;423;149	ENSP00000353631:S355N;ENSP00000297239:S423N;ENSP00000356048:S149N	ENSP00000297239:S423N	S	+	2	0	0	SYTL3	159098361	159098361	0.739000	0.28196	0.000000	0.03702	0.442000	0.32017	1.354000	0.34056	0.538000	0.28769	0.491000	0.48974	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-6.592246	1	0.170000				24	24		359	354	0		1	1		0	0	64	0		9.999997e-01	8.492437e-01	0	4	0	49	0	24	359
TAGAP	117289	broad.mit.edu	37	6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	590					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)			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)		TGGGCTTCCAGGCCTCTCCCA	0.632																																						ENST00000367066.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1768-1770)cCt>cAt		T-cell activation RhoGTPase activating protein							44.0	50.0	48.0					6																	159457286		2203	4300	6503	SO:0001583	missense	117289	0	0					g.chr6:159457286G>T	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.1769C>A	chr6.hg19:g.159457286G>T	ENSP00000356033:p.Pro590His	0					RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	p.P590H	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	0	0	0	1.973144	Q8N103	TAGAP_HUMAN		10	2100	-		Breast(66;0.000776)|Ovarian(120;0.0303)	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	1	1	hg19	c.1769C>A	CCDS5261.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436674	0.83885	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.71222	-0.45;-0.55	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.075686	0.56097	D	0.000030	D	0.82291	0.5005	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84171	0.0434	10	0.87932	D	0	-13.9202	19.077	0.93167	0.0:0.0:1.0:0.0	.	590	Q8N103	TAGAP_HUMAN	H	590;412;255	ENSP00000356033:P590H;ENSP00000322650:P412H	ENSP00000322650:P412H	P	-	2	0	0	TAGAP	159377274	159377274	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	5.734000	0.68580	2.595000	0.87683	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_054114			78	76		361	355	1		1	0		0	0	80	0		1	9.682000e-01	0	0	0	28	0	78	361
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N|FNDC1_ENST00000480856.1_3'UTR	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																																						ENST00000297267.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.K253N(1)	large_intestine(1)	93						c.(757-759)aaG>aaT		fibronectin type III domain containing 1							101.0	110.0	107.0					6																	159642721		1951	4142	6093	SO:0001583	missense	84624	0	0					g.chr6:159642721G>T	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	chr6.hg19:g.159642721G>T	ENSP00000297267:p.Lys253Asn	0					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N	p.K253N	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		6	959	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	1	1	hg19	c.759G>T	CCDS47512.1	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	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	0|2	FNDC1|FNDC1	159562709|159562709	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	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	46		46	43	1	2.060000	-20.000000	1	0.170000	NM_032532			43	43		154	153	1		1	0		0	0	46	0		1	9.999995e-01	0	0	0	85	0	43	154
FNDC1	84624	broad.mit.edu	37	6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	265	Fibronectin type-III 3. {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)				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)		TGTACCTGACGACATCAGCGT	0.483																																						ENST00000297267.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999576	0.990000	1.000000																										0				93						c.(793-795)Gac>Aac		fibronectin type III domain containing 1							160.0	154.0	156.0					6																	159644586		2030	4199	6229	SO:0001583	missense	84624	0	0					g.chr6:159644586G>A	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.793G>A	chr6.hg19:g.159644586G>A	ENSP00000297267:p.Asp265Asn	0					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N	p.D265N	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		7	993	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	1	1	hg19	c.793G>A	CCDS47512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.315|7.315	0.615763|0.615763	0.14129|0.14129	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52057|.	0.68;0.68|.	5.76|5.76	5.76|5.76	0.90799|0.90799	5.76|5.76	5.76|5.76	0.90799|0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.24483|.	T|.	0.36|.	-40.2157|-40.2157	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265;265|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	265|223	ENSP00000297267:D265N;ENSP00000342460:D265N|.	ENSP00000297267:D265N|.	D|R	+|+	1|2	0|0	0|0	FNDC1|FNDC1	159564574|159564574	159564574|159564574	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.087000|0.087000	0.18053|0.18053	9.055000|9.055000	0.93873|0.93873	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.367194	1	0.170000	NM_032532			22	21		119	117	1		1	0		0	0	34	0		9.999992e-01	9.977063e-01	0	0	0	56	0	22	119
FNDC1	84624	broad.mit.edu	37	6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	361					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)				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)		GCCCCTACCACAGCTCCTGAA	0.438																																						ENST00000297267.9	1.000000	0.790000	1	9.900000e-01	0.990000	0.985806	0.990000	1.000000																										0				93						c.(1081-1083)aCa>aTa		fibronectin type III domain containing 1							87.0	79.0	82.0					6																	159647514		1869	4104	5973	SO:0001583	missense	84624	0	0					g.chr6:159647514C>T	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.1082C>T	chr6.hg19:g.159647514C>T	ENSP00000297267:p.Thr361Ile	0					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I	p.T361I	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		9	1282	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	0	1	hg19	c.1082C>T	CCDS47512.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836532	0.50951	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.54675	0.56;3.96	5.54	4.67	0.58626	5.54	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178634	0.47093	D	0.000256	T	0.36276	0.0961	L	0.46157	1.445	0.30456	N	0.774782	P;P	0.52842	0.956;0.876	P;P	0.51016	0.656;0.637	T	0.43766	-0.9371	10	0.62326	D	0.03	-5.3003	5.4101	0.16344	0.1226:0.5707:0.2298:0.0769	.	361;361	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	361	ENSP00000297267:T361I;ENSP00000342460:T361I	ENSP00000297267:T361I	T	+	2	0	0	FNDC1	159567502	159567502	0.988000	0.35896	0.985000	0.45067	0.996000	0.88848	3.207000	0.51106	1.483000	0.48342	0.655000	0.94253	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-17.755450	1	0.170000	NM_032532			10	10		64	63	1		1	0		0	0	18	0		9.973693e-01	9.745330e-01	0	0	0	44	0	10	64
FNDC1	84624	broad.mit.edu	37	6	159653575	159653575	+	Silent	SNP	G	G	A	rs373307678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	677	Ser-rich.				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)				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)		GCCAGTCCCCGTCCAGCGTTC	0.706																																						ENST00000297267.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2029-2031)ccG>ccA		fibronectin type III domain containing 1		G		0,3878		0,0,1939	14.0	18.0	17.0		2031	-0.7	0.0	6		17	1,8175		0,1,4087	no	coding-synonymous	FNDC1	NM_032532.2		0,1,6026	AA,AG,GG		0.0122,0.0,0.0083		677/1895	159653575	1,12053	1939	4088	6027	SO:0001819	synonymous_variant	84624	1	120474	28				g.chr6:159653575G>A	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.2031G>A	chr6.hg19:g.159653575G>A		0					FNDC1_ENST00000340366.6_Silent_p.P614P	p.P677P	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		11	2231	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	1	1	hg19	c.2031G>A	CCDS47512.1	1	.	.	.	.	.	.	.	.	.	.	G	5.566	0.289340	0.10513	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	4.79	-0.683	0.11335	4.79	-0.683	0.11335	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	-0.2902	4.3537	0.11167	0.0:0.3712:0.3191:0.3097	.	.	.	.	I	573	.	.	V	+	1	0	0	FNDC1	159573565	159573565	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.725000	0.04942	-0.380000	0.07894	-0.133000	0.14855	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	46		46	43	1	2.060000	-3.228548	1	0.170000	NM_032532			45	45		191	183	1		1	0		0	0	46	0		1	9.125064e-01	0	0	0	20	0	45	191
FNDC1	84624	broad.mit.edu	37	6	159654115	159654115	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	857					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)				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)		CCTCCCGAGCCCACCCCAGGG	0.622																																						ENST00000297267.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				93						c.(2569-2571)gcC>gcA		fibronectin type III domain containing 1							22.0	28.0	26.0					6																	159654115		1964	4148	6112	SO:0001819	synonymous_variant	84624	0	0					g.chr6:159654115C>A	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.2571C>A	chr6.hg19:g.159654115C>A		0					FNDC1_ENST00000340366.6_Silent_p.A794A	p.A857A	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		11	2771	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	1	1	hg19	c.2571C>A	CCDS47512.1	1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223786	0.09863	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.0	-2.74	0.05932	4.0	-2.74	0.05932	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-3.3958	6.0495	0.19777	0.0:0.286:0.4831:0.2309	.	.	.	.	T	753	.	.	P	+	1	0	0	FNDC1	159574105	159574105	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.894000	0.04123	-0.518000	0.06452	0.655000	0.94253	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_032532			24	22		67	65	1		1	0		0	0	15	0		9.999999e-01	9.994270e-01	0	0	0	38	0	24	67
FNDC1	84624	broad.mit.edu	37	6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1018					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)				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)		GCACCACCCGGGACCCCAGAG	0.721																																						ENST00000297267.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.998562	0.990000	1.000000																										0				93						c.(3052-3054)Gga>Aga		fibronectin type III domain containing 1							11.0	14.0	13.0					6																	159654596		2053	4180	6233	SO:0001583	missense	84624	0	0					g.chr6:159654596G>A	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.3052G>A	chr6.hg19:g.159654596G>A	ENSP00000297267:p.Gly1018Arg	0					FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	p.G1018R	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		11	3252	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	0	1	hg19	c.3052G>A	CCDS47512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158991|2.158991	0.38119|0.38119	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08102	.|3.13;3.95	4.33|4.33	-1.78|-1.78	0.07957|0.07957	4.33|4.33	-1.78|-1.78	0.07957|0.07957	.|.	1.212080|1.212080	0.05915|0.05915	N|N	0.632382|0.632382	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.21151	.|0.033;0.015	T|T	0.47497|0.47497	-0.9113|-0.9113	6|10	.|0.14656	.|T	.|0.56	-1.4918|-1.4918	8.5689|8.5689	0.33556|0.33556	0.6941:0.0:0.3059:0.0|0.6941:0.0:0.3059:0.0	.|.	.|955;1018	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	913|1018;955	.|ENSP00000297267:G1018R;ENSP00000342460:G955R	.|ENSP00000297267:G1018R	G|G	+|+	2|1	0|0	0|0	FNDC1|FNDC1	159574586|159574586	159574586|159574586	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.074000|0.074000	0.17049|0.17049	0.050000|0.050000	0.14120|0.14120	-0.150000|-0.150000	0.11195|0.11195	-0.291000|-0.291000	0.09656|0.09656	GGG|GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.996060	1	0.170000	NM_032532			11	11		41	41	0		1	0		0	0	8	0		9.989461e-01	9.983278e-01	0	0	0	48	0	11	41
FNDC1	84624	broad.mit.edu	37	6	159672509	159672509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1670	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)				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)		TGGAAGGTTGCCACTCATTTG	0.547																																						ENST00000297267.9	1.000000	0.970000	1	9.900000e-01	0.990000	0.997068	0.990000	1.000000																										0				93						c.(5008-5010)tgC>tgT		fibronectin type III domain containing 1							61.0	59.0	60.0					6																	159672509		2045	4202	6247	SO:0001819	synonymous_variant	84624	0	0					g.chr6:159672509C>T	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.5010C>T	chr6.hg19:g.159672509C>T		0					FNDC1_ENST00000340366.6_Silent_p.C1607C	p.C1670C	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		17	5210	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	1	1	hg19	c.5010C>T	CCDS47512.1	1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126630	0.20959	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.64	0.41730	5.51	3.64	0.41730	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-25.3864	9.9334	0.41537	0.0:0.7665:0.0:0.2335	.	.	.	.	S	1566	.	.	P	+	1	0	0	FNDC1	159592499	159592499	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.426000	0.21363	1.264000	0.44198	0.585000	0.79938	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_032532			17	17		104	100	1		1	0		0	0	34	0		9.999699e-01	9.996479e-01	0	0	0	86	0	17	104
FNDC1	84624	broad.mit.edu	37	6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A	rs374035084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1771					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)				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)		GATCCCATTCGCTTTCAAACA	0.483																																						ENST00000297267.9	1.000000	0.800000	1	9.700000e-01	0.990000	0.982048	0.990000	1.000000																										0				93						c.(5311-5313)Gct>Act		fibronectin type III domain containing 1		G	THR/ALA	0,4032		0,0,2016	122.0	118.0	119.0		5311	0.1	1.0	6		119	1,8365		0,1,4182	no	missense	FNDC1	NM_032532.2	58	0,1,6198	AA,AG,GG		0.012,0.0,0.0081	benign	1771/1895	159687142	1,12397	2016	4183	6199	SO:0001583	missense	84624	11	120928	40				g.chr6:159687142G>A	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.5311G>A	chr6.hg19:g.159687142G>A	ENSP00000297267:p.Ala1771Thr	0					FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	p.A1771T	NM_032532.2	NP_115921.2	0	0	0	1.973144	Q4ZHG4	FNDC1_HUMAN		21	5511	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	1	1	hg19	c.5311G>A	CCDS47512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248751|2.248751	0.39797|0.39797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.42131|.	0.98;0.98|.	5.87|5.87	0.12|0.12	0.14691|0.14691	5.87|5.87	0.12|0.12	0.14691|0.14691	.|.	0.495402|.	0.22578|.	N|.	0.058260|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.02011|0.02011	-0.69|-0.69	0.28659|0.28659	N|N	0.906227|0.906227	B|.	0.29037|.	0.231|.	B|.	0.15484|.	0.013|.	T|T	0.43475|0.43475	-0.9389|-0.9389	9|5	.|.	.|.	.|.	-10.6041|-10.6041	5.6712|5.6712	0.17723|0.17723	0.2619:0.0:0.4937:0.2444|0.2619:0.0:0.4937:0.2444	.|.	1771|.	Q4ZHG4|.	FNDC1_HUMAN|.	T|H	1771;1708|1666	ENSP00000297267:A1771T;ENSP00000342460:A1708T|.	.|.	A|R	+|+	1|2	0|0	0|0	FNDC1|FNDC1	159607132|159607132	159607132|159607132	0.982000|0.982000	0.34865|0.34865	0.989000|0.989000	0.46669|0.46669	0.952000|0.952000	0.60782|0.60782	0.344000|0.344000	0.19962|0.19962	0.057000|0.057000	0.16193|0.16193	0.650000|0.650000	0.86243|0.86243	GCT|CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-8.041726	1	0.170000	NM_032532			26	26		228	223	1		1	0		0	0	48	0		9.999999e-01	9.983172e-01	0	0	0	90	0	26	228
WTAP	9589	broad.mit.edu	37	6	160164713	160164713	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160164713C>A	ENST00000358372.4	+	5	1919	c.162C>A	c.(160-162)ggC>ggA	p.G54G	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	54					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGTAACTGGCCTAAGAGAGT	0.368																																						ENST00000358372.4	0.520000	0.110000	4.000000e-01	1.800000e-01	0.270000	0.295499	0.270000	0.260000																										0				18						c.(160-162)ggC>ggA		Wilms tumor 1 associated protein							54.0	54.0	54.0					6																	160164713		2203	4300	6503	SO:0001819	synonymous_variant	9589	0	0					g.chr6:160164713C>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.162C>A	chr6.hg19:g.160164713C>A		0					SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	0	0	0	1.973144	Q15007	FL2D_HUMAN		5	1919	+		Breast(66;0.000776)|Ovarian(120;0.0303)	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	0	1	hg19	c.162C>A	CCDS5266.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	0	0		2	2	2	0		0	0	37		37	36	1	2.060000	-3.298241	1	0.170000	NM_152857			6	6		262	258	0		1	1		0	0	37	0		9.638031e-01	9.932609e-01	0	20	0	404	0	6	262
PNLDC1	154197	broad.mit.edu	37	6	160225117	160225117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000610273.1	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000392167.3_Silent_p.N123N|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			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)		TCAACTATAACAAGGTATGGC	0.458																																						ENST00000610273.1	0.740000	0.390000	6.500000e-01	4.600000e-01	0.550000	0.564073	0.550000	0.550000																										0				31						c.(334-336)aaC>aaT		poly(A)-specific ribonuclease (PARN)-like domain containing 1							128.0	132.0	130.0					6																	160225117		2203	4300	6503	SO:0001819	synonymous_variant	154197	0	0					g.chr6:160225117C>T	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.336C>T	chr6.hg19:g.160225117C>T		0					PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Silent_p.N123N	p.N112N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	0	0	0	1.973144	Q8NA58	PNDC1_HUMAN		5	507	+		Breast(66;0.00519)|Ovarian(120;0.123)	Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	1	1	hg19	c.336C>T	CCDS5271.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	146		146	144	1	2.060000	-5.433063	1	0.170000	NM_173516			34	34		680	655	0		1			0	0	146	0		1	0	0	0	0	0	0	34	680
PNLDC1	154197	broad.mit.edu	37	6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000610273.1	+	15	1268	c.1097C>T	c.(1096-1098)gCa>gTa	p.A366V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	366						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			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)		TTGAAAGTGGCACACTTGCTT	0.388																																						ENST00000610273.1	1.000000	0.750000	1	8.700000e-01	0.990000	0.953312	0.990000	1.000000																										0				31						c.(1096-1098)gCa>gTa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							219.0	198.0	205.0					6																	160238156		2203	4298	6501	SO:0001583	missense	154197	0	0					g.chr6:160238156C>T	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.1097C>T	chr6.hg19:g.160238156C>T	ENSP00000476448:p.Ala366Val	0					PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	p.A366V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	0	0	0	1.973144	Q8NA58	PNDC1_HUMAN		15	1268	+		Breast(66;0.00519)|Ovarian(120;0.123)	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	1	1	hg19	c.1097C>T	CCDS5271.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020294	0.75275	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.58623	0.2135	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.74674	0.969;0.984	T	0.62718	-0.6795	9	0.56958	D	0.05	.	16.5757	0.84637	0.0:1.0:0.0:0.0	.	377;366	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	366;377	.	ENSP00000275275:A366V	A	+	2	0	0	PNLDC1	160158146	160158146	0.995000	0.38212	0.917000	0.36280	0.953000	0.61014	4.185000	0.58330	2.518000	0.84900	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-12.729660	1	0.170000	NM_173516			44	44		460	455	0		1	0		0	0	74	0		1	0	0	0	0	1	0	44	460
PNLDC1	154197	broad.mit.edu	37	6	160240289	160240289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000610273.1	+	18	1575	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	PNLDC1_ENST00000392167.3_Silent_p.A479A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	468						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			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)		TTGGCAGTGCGCGGAACATCC	0.597																																						ENST00000610273.1	0.730000	0.190000	5.800000e-01	2.900000e-01	0.410000	0.440634	0.410000	0.390000																										0				31						c.(1402-1404)gcG>gcA		poly(A)-specific ribonuclease (PARN)-like domain containing 1							97.0	74.0	82.0					6																	160240289		2203	4300	6503	SO:0001819	synonymous_variant	154197	2	121412	35				g.chr6:160240289G>A	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.1404G>A	chr6.hg19:g.160240289G>A		0					PNLDC1_ENST00000392167.3_Silent_p.A479A	p.A468A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	0	0	0	1.973144	Q8NA58	PNDC1_HUMAN		18	1575	+		Breast(66;0.00519)|Ovarian(120;0.123)	Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	1	1	hg19	c.1404G>A	CCDS5271.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-9.736993	1	0.170000	NM_173516			8	8		222	219	0		1	0		0	0	43	0		9.891647e-01	9.375499e-03	0	0	0	4	0	8	222
IGF2R	3482	broad.mit.edu	37	6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	421					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)			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)	TGATGAATGCAGCTCAGGGTT	0.443																																						ENST00000356956.1	1.000000	0.550000	9.200000e-01	6.600000e-01	0.780000	0.793874	0.780000	1.000000																										0				95						c.(1261-1263)Agc>Cgc		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						142.0	129.0	133.0					6																	160455500		2203	4300	6503	SO:0001583	missense	3482	0	0					g.chr6:160455500A>C	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.1261A>C	chr6.hg19:g.160455500A>C	ENSP00000349437:p.Ser421Arg	0						p.S421R	NM_000876.2	NP_000867	0	0	0	1.973144	P11717	MPRI_HUMAN		10	1409	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	1	1	hg19	c.1261A>C	CCDS5273.1	0	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168410	0.57584	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.5	5.5	0.81552	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.135082	0.64402	D	0.000003	T	0.09862	0.0242	M	0.86028	2.79	0.58432	D	0.999998	P	0.52316	0.952	P	0.51582	0.674	T	0.05451	-1.0884	10	0.35671	T	0.21	-12.1161	15.6029	0.76639	1.0:0.0:0.0:0.0	.	421	P11717	MPRI_HUMAN	R	421	ENSP00000349437:S421R	ENSP00000349437:S421R	S	+	1	0	0	IGF2R	160375490	160375490	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.739000	0.74827	2.090000	0.63153	0.533000	0.62120	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_000876			35	35		482	471	0		1	1		0	0	81	0		1	9.983656e-01	0	12	0	123	0	35	482
IGF2R	3482	broad.mit.edu	37	6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1004					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)			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)	GCCAGCAAGGCCAGTCGGAAT	0.537																																						ENST00000356956.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(3010-3012)Cca>Tca		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						126.0	118.0	120.0					6																	160480049		2203	4300	6503	SO:0001583	missense	3482	0	0					g.chr6:160480049C>T	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.3010C>T	chr6.hg19:g.160480049C>T	ENSP00000349437:p.Pro1004Ser	0						p.P1004S	NM_000876.2	NP_000867	0	0	0	1.973144	P11717	MPRI_HUMAN		22	3158	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	1	1	hg19	c.3010C>T	CCDS5273.1	1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829125	0.16749	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.9	3.12	0.35913	4.9	3.12	0.35913	Mannose-6-phosphate receptor, binding (1);	0.819431	0.11240	N	0.584753	T	0.01222	0.0040	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.45731	-0.9241	10	0.24483	T	0.36	-7.5375	12.2115	0.54381	0.1206:0.6412:0.2382:0.0	.	1004	P11717	MPRI_HUMAN	S	1004	ENSP00000349437:P1004S	ENSP00000349437:P1004S	P	+	1	0	0	IGF2R	160400039	160400039	0.425000	0.25498	0.093000	0.20910	0.005000	0.04900	0.873000	0.28052	0.268000	0.21939	-0.795000	0.03280	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-3.328738	1	0.170000	NM_000876			81	80		413	405	1		1	1		0	0	122	0		1	1	0	41	0	189	0	81	413
IGF2R	3482	broad.mit.edu	37	6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1542					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)			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)	ACAGCTGCTTACAGCGAGAAG	0.547																																						ENST00000356956.1	0.600000	0.270000	5.100000e-01	3.400000e-01	0.420000	0.432827	0.420000	0.410000																										0				95						c.(4624-4626)tAc>tGc		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						194.0	166.0	175.0					6																	160493851		2203	4300	6503	SO:0001583	missense	3482	0	0					g.chr6:160493851A>G	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.4625A>G	chr6.hg19:g.160493851A>G	ENSP00000349437:p.Tyr1542Cys	0						p.Y1542C	NM_000876.2	NP_000867	0	0	0	1.973144	P11717	MPRI_HUMAN		33	4773	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	1	1	hg19	c.4625A>G	CCDS5273.1	0	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538926	0.45176	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.26	5.26	0.73747	5.26	5.26	0.73747	Mannose-6-phosphate receptor, binding (1);	0.587979	0.18186	N	0.148968	T	0.06234	0.0161	M	0.75447	2.3	0.36227	D	0.852367	D	0.76494	0.999	D	0.74023	0.982	T	0.06716	-1.0811	10	0.52906	T	0.07	-7.7268	11.5057	0.50466	1.0:0.0:0.0:0.0	.	1542	P11717	MPRI_HUMAN	C	1542	ENSP00000349437:Y1542C	ENSP00000349437:Y1542C	Y	+	2	0	0	IGF2R	160413841	160413841	0.928000	0.31464	1.000000	0.80357	0.439000	0.31926	4.515000	0.60489	2.205000	0.71048	0.528000	0.53228	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-4.057994	1	0.170000	NM_000876			25	24		666	650	0		1	1		0	0	115	0		9.999998e-01	9.980353e-01	0	12	0	245	0	25	666
IGF2R	3482	broad.mit.edu	37	6	160494321	160494321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1589					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)			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)	AGGTCCTGCAGCTGGTGTACA	0.577																																						ENST00000356956.1	1.000000	0.660000	1	8.200000e-01	0.990000	0.935624	0.990000	1.000000																										0				95						c.(4765-4767)caG>caA		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						186.0	144.0	158.0					6																	160494321		2203	4300	6503	SO:0001819	synonymous_variant	3482	1	121412	32				g.chr6:160494321G>A	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.4767G>A	chr6.hg19:g.160494321G>A		0						p.Q1589Q	NM_000876.2	NP_000867	0	0	0	1.973144	P11717	MPRI_HUMAN		34	4915	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	1	1	hg19	c.4767G>A	CCDS5273.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_000876			22	22		229	226	0		1	1		0	0	55	0		9.999989e-01	9.999987e-01	0	17	0	228	0	22	229
IGF2R	3482	broad.mit.edu	37	6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1768					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)			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)	CACTGTAAGAGAGGTGTGAGC	0.473																																						ENST00000356956.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(5302-5304)aGa>aAa		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						176.0	161.0	166.0					6																	160497015		2203	4300	6503	SO:0001583	missense	3482	0	0					g.chr6:160497015G>A	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.5303G>A	chr6.hg19:g.160497015G>A	ENSP00000349437:p.Arg1768Lys	0						p.R1768K	NM_000876.2	NP_000867	0	0	0	1.973144	P11717	MPRI_HUMAN		36	5451	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	1	1	hg19	c.5303G>A	CCDS5273.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167333	0.78339	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	5.31	5.31	0.75309	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.239713	0.40818	N	0.001003	T	0.01558	0.0050	L	0.45698	1.435	0.42957	D	0.994396	B	0.28439	0.212	B	0.38712	0.28	T	0.54807	-0.8238	10	0.12430	T	0.62	-6.6127	13.1296	0.59373	0.0834:0.0:0.9166:0.0	.	1768	P11717	MPRI_HUMAN	K	1768	ENSP00000349437:R1768K	ENSP00000349437:R1768K	R	+	2	0	0	IGF2R	160417005	160417005	1.000000	0.71417	0.904000	0.35570	0.901000	0.52897	4.728000	0.62000	2.637000	0.89404	0.655000	0.94253	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-3.333922	1	0.170000	NM_000876			110	109		478	470	1		1	1		0	0	107	0		1	1	0	50	0	229	0	110	478
SLC22A2	6582	broad.mit.edu	37	6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366953.3	-	1	370	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	SLC22A2_ENST00000366952.1_Missense_Mutation_p.V17M|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	38					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)			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)	ACGATGCCCACGTAGATGGGC	0.607																																						ENST00000366953.3	0.730000	0.330000	6.300000e-01	4.100000e-01	0.510000	0.524950	0.510000	0.500000																										0				27						c.(112-114)Gtg>Atg		solute carrier family 22 (organic cation transporter), member 2	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)						40.0	44.0	43.0					6																	160679678		2203	4300	6503	SO:0001583	missense	6582	0	0					g.chr6:160679678C>T	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.112G>A	chr6.hg19:g.160679678C>T	ENSP00000355920:p.Val38Met	0					SLC22A2_ENST00000366952.1_Missense_Mutation_p.V17M|SLC22A2_ENST00000491092.1_5'UTR	p.V38M	NM_003058.3	NP_003049.2	0	0	0	1.973144	O15244	S22A2_HUMAN		1	370	-		Breast(66;0.000776)|Ovarian(120;0.0303)	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	1	1	hg19	c.112G>A	CCDS5276.1	0	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676933	0.67928	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.74	5.22	5.22	0.72569	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.136685	0.48767	D	0.000163	T	0.70011	0.3175	L	0.39692	1.235	0.43574	D	0.995904	D;D;D	0.64830	0.988;0.97;0.994	P;B;P	0.54140	0.726;0.298;0.743	T	0.65549	-0.6141	10	0.25751	T	0.34	.	18.9747	0.92731	0.0:1.0:0.0:0.0	.	38;38;38	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	38;17	ENSP00000355920:V38M;ENSP00000355919:V17M	ENSP00000355919:V17M	V	-	1	0	0	SLC22A2	160599668	160599668	0.999000	0.42202	0.982000	0.44146	0.709000	0.40893	4.177000	0.58276	2.701000	0.92244	0.557000	0.71058	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	1	0	1		2	2	2	0		0	0	99		99	96	1	2.060000	-3.333104	1	0.170000	NM_003058			22	22		480	474	0		1			0	0	99	0		9.999986e-01	0	0	0	0	0	0	22	480
SLC22A3	6581	broad.mit.edu	37	6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000275300.2	+	5	1044	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298					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)			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)	GCTGATTACTCGGAAGAAAGG	0.428																																						ENST00000275300.2	0.730000	0.220000	5.800000e-01	3.100000e-01	0.430000	0.456038	0.430000	0.410000																										0				27						c.(892-894)Cgg>Tgg		solute carrier family 22 (organic cation transporter), member 3	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)						82.0	80.0	80.0					6																	160831795		2203	4300	6503	SO:0001583	missense	6581	0	0					g.chr6:160831795C>T	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.892C>T	chr6.hg19:g.160831795C>T	ENSP00000275300:p.Arg298Trp	0					SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	p.R298W	NM_021977.3	NP_068812.1	0	0	0	1.973144	O75751	S22A3_HUMAN		5	1044	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	1	1	hg19	c.892C>T	CCDS5277.1	0	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834338	0.91036	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60424	0.19;0.19	5.77	5.77	0.91146	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156570	0.45361	D	0.000380	T	0.71065	0.3296	M	0.69358	2.11	0.51233	D	0.999914	D	0.89917	1.0	D	0.79784	0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	18.1733	0.89753	0.0:1.0:0.0:0.0	.	298	O75751	S22A3_HUMAN	W	298	ENSP00000275300:R298W;ENSP00000375989:R298W	ENSP00000275300:R298W	R	+	1	2	2	SLC22A3	160751785	160751785	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.719000	0.61937	2.745000	0.94114	0.650000	0.86243	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-2.616611	1	0.170000	NM_021977			10	10		263	258	0		1	0		0	0	62	0		9.966748e-01	3.750396e-01	0	0	0	33	0	10	263
SLC22A3	6581	broad.mit.edu	37	6	160858179	160858179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000275300.2	+	7	1376	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000392145.1_Silent_p.L408L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	408					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)			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)	GACGACGCCTCCCCTTTGCGG	0.522																																						ENST00000275300.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1222-1224)ctC>ctT		solute carrier family 22 (organic cation transporter), member 3	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)						148.0	153.0	151.0					6																	160858179		2203	4300	6503	SO:0001819	synonymous_variant	6581	0	0					g.chr6:160858179C>T	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.1224C>T	chr6.hg19:g.160858179C>T		0					SLC22A3_ENST00000392145.1_Silent_p.L408L	p.L408L	NM_021977.3	NP_068812.1	0	0	0	1.973144	O75751	S22A3_HUMAN		7	1376	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	1	1	hg19	c.1224C>T	CCDS5277.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	1	0	0		2	2	2	0		0	0	229		229	225	1	2.060000	-20.000000	1	0.170000	NM_021977			186	184		804	784	1		1	1		0	0	229	0		1	9.545054e-01	0	20	0	4	0	186	804
SLC22A3	6581	broad.mit.edu	37	6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T	rs537020286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000275300.2	+	7	1384	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	411					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)			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)	CTCCCCTTTGCGGCAAGCAAT	0.502																																						ENST00000275300.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1231-1233)gCg>gTg		solute carrier family 22 (organic cation transporter), member 3	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)						140.0	144.0	142.0					6																	160858187		2203	4300	6503	SO:0001583	missense	6581	0	0					g.chr6:160858187C>T	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.1232C>T	chr6.hg19:g.160858187C>T	ENSP00000275300:p.Ala411Val	0					SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	p.A411V	NM_021977.3	NP_068812.1	0	0	0	1.973144	O75751	S22A3_HUMAN		7	1384	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	1	1	hg19	c.1232C>T	CCDS5277.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495541	0.64186	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58652	0.32;0.47	5.83	5.83	0.93111	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.63843	1.955	0.35287	D	0.78182	D	0.60160	0.987	P	0.45232	0.474	T	0.54899	-0.8224	10	0.41790	T	0.15	.	12.5881	0.56428	0.0:0.9242:0.0:0.0758	.	411	O75751	S22A3_HUMAN	V	411	ENSP00000275300:A411V;ENSP00000375989:A411V	ENSP00000275300:A411V	A	+	2	0	0	SLC22A3	160778177	160778177	0.987000	0.35691	0.000000	0.03702	0.974000	0.67602	2.768000	0.47645	2.756000	0.94617	0.655000	0.94253	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	0	0	0		2	2	2	0		0	0	220		220	215	1	2.060000	-20.000000	1	0.170000	NM_021977			161	158		774	755	1		1	1		0	0	220	0		1	9.344539e-01	0	3	0	20	0	161	774
LPA	4018	broad.mit.edu	37	6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000316300.5	-	38	5971	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000447678.1_Missense_Mutation_p.A1976V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4484	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)			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)	CAAATGCTCAGCACAAATATA	0.443																																						ENST00000316300.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.998026	0.990000	1.000000																										0				107						c.(5926-5928)gCt>gTt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						78.0	79.0	78.0					6																	160953597		2149	4279	6428	SO:0001583	missense	4018	0	0					g.chr6:160953597G>A	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.5927C>T	chr6.hg19:g.160953597G>A	ENSP00000321334:p.Ala1976Val	0					LPA_ENST00000447678.1_Missense_Mutation_p.A1976V	p.A1976V			0	0	0	1.973144	P08519	APOA_HUMAN		38	5971	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	1	1	hg19	c.5927C>T	CCDS43523.1	1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486295	0.44147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.91124	-2.79;-2.79	1.93	1.93	0.25924	1.93	1.93	0.25924	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93602	0.7957	M	0.83852	2.665	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	D	0.93468	0.6816	9	0.62326	D	0.03	.	11.4209	0.49980	0.0:0.0:1.0:0.0	.	4484	P08519	APOA_HUMAN	V	1976	ENSP00000321334:A1976V;ENSP00000395608:A1976V	ENSP00000321334:A1976V	A	-	2	0	0	LPA	160873587	160873587	1.000000	0.71417	0.075000	0.20258	0.024000	0.10985	7.310000	0.78947	1.412000	0.46977	0.184000	0.17185	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-15.000700	1	0.170000	NM_005577			35	33		261	259	1		1	0		0	0	52	0		1	0	0	0	0	1	0	35	261
LPA	4018	broad.mit.edu	37	6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000316300.5	-	23	3721	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000447678.1_Missense_Mutation_p.P1226H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11. {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)			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)	ATAACACCAAGGACTAATCTC	0.478																																						ENST00000316300.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3676-3678)cCt>cAt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						94.0	93.0	94.0					6																	161012086		2192	4300	6492	SO:0001583	missense	4018	0	0					g.chr6:161012086G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3677C>A	chr6.hg19:g.161012086G>T	ENSP00000321334:p.Pro1226His	0					LPA_ENST00000447678.1_Missense_Mutation_p.P1226H	p.P1226H			0	0	0	1.973144	P08519	APOA_HUMAN		23	3721	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	1	1	hg19	c.3677C>A	CCDS43523.1	1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642013	0.29157	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83914	-1.78;-1.78	2.23	2.23	0.28157	2.23	2.23	0.28157	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.93245	0.7848	H	0.99697	4.71	0.25370	N	0.9887	D	0.89917	1.0	D	0.97110	1.0	D	0.84621	0.0684	9	0.72032	D	0.01	.	10.0796	0.42381	0.0:0.0:1.0:0.0	.	3734	P08519	APOA_HUMAN	H	1226	ENSP00000321334:P1226H;ENSP00000395608:P1226H	ENSP00000321334:P1226H	P	-	2	0	0	LPA	160932076	160932076	1.000000	0.71417	0.657000	0.29651	0.220000	0.24768	6.735000	0.74806	1.225000	0.43566	0.205000	0.17691	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	0	1		18	2	2	1		1	1	39		39	39	1	2.060000	-3.634555	1	0.170000	NM_005577			48	48		176	172	0		1			1	0	39	0		9.999797e-01	0	0	0	0	0	0	48	176
FOXC1	2296	broad.mit.edu	37	6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	105					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|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 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)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(313-315)Tac>Cac		forkhead box C1							120.0	129.0	126.0					6																	1610993		2203	4300	6503	SO:0001583	missense	2296	0	0					g.chr6:1610993T>C	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.313T>C	chr6.hg19:g.1610993T>C	ENSP00000370256:p.Tyr105His	0						p.Y105H	NM_001453.2	NP_001444.2	0	0	0	1.967613	Q12948	FOXC1_HUMAN		1	313	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	1	1	hg19	c.313T>C	CCDS4473.1	1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.022166	0.75275	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97279	-4.32	3.86	3.86	0.44501	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000005	D	0.99061	0.9678	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	12.605	0.56519	0.0:0.0:0.0:1.0	.	105	Q12948	FOXC1_HUMAN	H	105	ENSP00000370256:Y105H	ENSP00000370256:Y105H	Y	+	1	0	0	FOXC1	1555992	1555992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.138000	0.77305	1.501000	0.48654	0.375000	0.23000	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1	1	0	1		2	2	2	0		0	0	163		163	161	1	2.060000	-20.000000	1	0.170000				122	121		579	570	1		1	1		0	0	163	0		1	9.999932e-01	0	37	0	44	0	122	579
MYLIP	29116	broad.mit.edu	37	6	16141919	16141919	+	Silent	SNP	G	G	A	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		19053	0.0		0.003	False		,,,				2504	0.0					ENST00000356840.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(340-342)gaG>gaA		myosin regulatory light chain interacting protein		G		0,4406		0,0,2203	87.0	82.0	84.0		342	4.5	1.0	6	dbSNP_134	84	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	MYLIP	NM_013262.3		0,7,6496	AA,AG,GG		0.0814,0.0,0.0538		114/446	16141919	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	29116	89	121412	51				g.chr6:16141919G>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.342G>A	chr6.hg19:g.16141919G>A		0					MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_5'UTR	p.E114E	NM_013262.3	NP_037394.2	0	0	0	1.967613	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)	3	540	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	1	1	hg19	c.342G>A	CCDS4536.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.883061	1	0.170000	NM_013262			51	51		256	253	1		1	1		0	0	58	0		1	9.998772e-01	0	13	0	57	0	51	256
LPA	4018	broad.mit.edu	37	6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000316300.5	-	22	3589	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000447678.1_Missense_Mutation_p.T1182I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3690	Kringle 11. {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)			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)	TGTGACAGTGGTAGAGAATGA	0.473																																						ENST00000316300.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				107						c.(3544-3546)aCc>aTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						158.0	159.0	159.0					6																	161015074		2077	4253	6330	SO:0001583	missense	4018	0	0					g.chr6:161015074G>A	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.3545C>T	chr6.hg19:g.161015074G>A	ENSP00000321334:p.Thr1182Ile	0					LPA_ENST00000447678.1_Missense_Mutation_p.T1182I	p.T1182I			0	0	0	1.973144	P08519	APOA_HUMAN		22	3589	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	1	1	hg19	c.3545C>T	CCDS43523.1	1	.	.	.	.	.	.	.	.	.	.	g	6.106	0.387885	0.11581	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.56	0.653	0.17828	2.56	0.653	0.17828	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.57110	0.2031	M	0.62209	1.925	0.09310	N	1	D	0.65815	0.995	D	0.83275	0.996	T	0.42982	-0.9419	9	0.40728	T	0.16	.	4.8007	0.13296	0.3309:0.0:0.6691:0.0	.	3690	P08519	APOA_HUMAN	I	1182	ENSP00000321334:T1182I;ENSP00000395608:T1182I	ENSP00000321334:T1182I	T	-	2	0	0	LPA	160935064	160935064	0.657000	0.27393	0.009000	0.14445	0.060000	0.15804	0.101000	0.15251	-0.002000	0.14469	0.436000	0.28706	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_005577			103	101		455	446	1		1			0	0	114	0		1	0	0	0	0	0	0	103	455
MAP3K4	4216	broad.mit.edu	37	6	161470912	161470912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443																																						ENST00000392142.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1606-1608)caG>caA		mitogen-activated protein kinase kinase kinase 4							80.0	85.0	83.0					6																	161470912		2203	4300	6503	SO:0001819	synonymous_variant	4216	0	0					g.chr6:161470912G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1608G>A	chr6.hg19:g.161470912G>A		0					MAP3K4_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q	p.Q536Q	NM_005922.2	NP_005913	0	0	0	1.973144	Q9Y6R4	M3K4_HUMAN		3	1756	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	1	1	hg19	c.1608G>A	CCDS34565.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000				73	72		316	310	0		1	1		0	0	98	0		1	9.084224e-01	0	4	0	16	0	73	316
MAP3K4	4216	broad.mit.edu	37	6	161505595	161505595	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	ENST00000392142.4	+	7	2466	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	773					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACAGGAGAGCTGTGCTGAA	0.408																																						ENST00000392142.4	0.740000	0.280000	6.100000e-01	3.700000e-01	0.480000	0.496842	0.480000	0.470000																										0				77						c.(2317-2319)aGc>aTc		mitogen-activated protein kinase kinase kinase 4							162.0	146.0	151.0					6																	161505595		2203	4300	6503	SO:0001583	missense	4216	0	0					g.chr6:161505595G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2318G>T	chr6.hg19:g.161505595G>T	ENSP00000375986:p.Ser773Ile	0					MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I	p.S773I	NM_005922.2	NP_005913	0	0	0	1.973144	Q9Y6R4	M3K4_HUMAN		7	2466	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	0	1	hg19	c.2318G>T	CCDS34565.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386766	0.82902	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71341	-0.56;-0.55;-0.55;-0.56	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.71771	-0.4492	10	0.36615	T	0.2	-20.1432	20.2284	0.98346	0.0:0.0:1.0:0.0	.	773;773;773	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	I	773	ENSP00000355886:S773I;ENSP00000375986:S773I;ENSP00000355887:S773I;ENSP00000297332:S773I	ENSP00000297332:S773I	S	+	2	0	0	MAP3K4	161425585	161425585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.642000	0.83385	2.785000	0.95823	0.650000	0.86243	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-4.114376	1	0.170000				15	15		352	344	0		1	0		0	0	43	0		9.998569e-01	4.969682e-01	0	1	0	38	0	15	352
MAP3K4	4216	broad.mit.edu	37	6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1156					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1156Q(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468																																						ENST00000392142.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R1156Q(2)	endometrium(2)	77						c.(3466-3468)cGa>cAa		mitogen-activated protein kinase kinase kinase 4							193.0	154.0	167.0					6																	161518151		2203	4300	6503	SO:0001583	missense	4216	1	121412	27				g.chr6:161518151G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3467G>A	chr6.hg19:g.161518151G>A	ENSP00000375986:p.Arg1156Gln	0					MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q	p.R1156Q	NM_005922.2	NP_005913	0	0	0	1.973144	Q9Y6R4	M3K4_HUMAN		16	3615	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	1	1	hg19	c.3467G>A	CCDS34565.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.835979	0.97003	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73897	-0.79;-0.72;-0.62;-0.73	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;B;D;D	0.83275	0.928;0.186;0.99;0.996	T	0.76247	-0.3029	10	0.45353	T	0.12	-14.0529	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1152;142;1156;1156	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1156;1156;1156;1152;1152	ENSP00000355886:R1156Q;ENSP00000375986:R1156Q;ENSP00000355887:R1152Q;ENSP00000297332:R1152Q	ENSP00000297332:R1152Q	R	+	2	0	0	MAP3K4	161438141	161438141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	1	0	1		2	5	2	1		1	0	95		95	95	1	2.060000	-3.294733	1	0.170000				60	61		279	275	1		1	1		1	0	95	0		1	9.952909e-01	0	17	0	54	0	60	279
AGPAT4	56895	broad.mit.edu	37	6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	332					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)			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)		GAAGACCCGCTCCTGATCATG	0.632																																						ENST00000320285.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(994-996)Agc>Ggc		1-acylglycerol-3-phosphate O-acyltransferase 4							110.0	111.0	111.0					6																	161560502		2203	4300	6503	SO:0001583	missense	56895	0	0					g.chr6:161560502T>C	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.994A>G	chr6.hg19:g.161560502T>C	ENSP00000314036:p.Ser332Gly	0					AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	p.S332G	NM_020133.2	NP_064518.1	0	0	0	1.973144	Q9NRZ5	PLCD_HUMAN		8	1206	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	1	1	hg19	c.994A>G	CCDS5280.1	1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851995	0.51270	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.34072	1.38	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.096844	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78456	2.415	0.80722	D	1	B;B	0.29936	0.085;0.262	B;B	0.26864	0.074;0.053	T	0.29119	-1.0022	10	0.66056	D	0.02	-14.4341	15.2173	0.73277	0.0:0.0:0.0:1.0	.	170;332	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	G	332;170	ENSP00000314036:S332G	ENSP00000314036:S332G	S	-	1	0	0	AGPAT4	161480492	161480492	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.077000	0.71275	1.988000	0.58038	0.455000	0.32223	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	0	0	1		2	2	2	0		0	0	189		189	185	1	2.060000	-20.000000	1	0.170000	NM_020133			160	156		803	787	1		1	1		0	0	189	0		1	9.992082e-01	0	12	0	42	0	160	803
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					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)			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)		ACCGTCTTGCGATCCTGCTCC	0.562																																						ENST00000320285.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(454-456)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 4							144.0	126.0	132.0					6																	161575237		2203	4300	6503	SO:0001583	missense	56895	2	121412	39				g.chr6:161575237G>A	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.454C>T	chr6.hg19:g.161575237G>A	ENSP00000314036:p.Arg152Cys	0					AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000457520.2_Intron	p.R152C	NM_020133.2	NP_064518.1	0	0	0	1.973144	Q9NRZ5	PLCD_HUMAN		4	666	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	1	1	hg19	c.454C>T	CCDS5280.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195733|4.195733	0.78902|0.78902	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.91521|.	-2.86;-2.86|.	4.41|4.41	4.41|4.41	0.53225|0.53225	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49695|0.49695	0.1572|0.1572	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44946	1.0;1.0|0.846	D;D|B	0.73380|0.35899	0.98;0.973|0.213	T|T	0.66372|0.66372	-0.5940|-0.5940	10|8	0.87932|0.87932	D|D	0|0	-46.4133|-46.4133	12.3423|12.3423	0.55101|0.55101	0.0:0.0:0.8312:0.1687|0.0:0.0:0.8312:0.1687	.|.	152;152|95	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	C|L	152;90|95	ENSP00000314036:R152C;ENSP00000355873:R90C|.	ENSP00000314036:R152C|ENSP00000355878:S95L	R|S	-|-	1|2	0|0	0|0	AGPAT4|AGPAT4	161495227|161495227	161495227|161495227	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.867000|0.867000	0.49689|0.49689	6.093000|6.093000	0.71422|0.71422	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	CGC|TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_020133			81	79		352	348	1		1	1		0	0	95	0		1	9.994965e-01	0	12	0	39	0	81	352
AGPAT4	56895	broad.mit.edu	37	6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	47					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)			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)		GTTGATCTTCCGGAAGAGCTG	0.448																																						ENST00000320285.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(139-141)cGg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 4							117.0	104.0	108.0					6																	161653106		2203	4300	6503	SO:0001583	missense	56895	1	121412	30				g.chr6:161653106C>T	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.140G>A	chr6.hg19:g.161653106C>T	ENSP00000314036:p.Arg47Gln	0					AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	p.R47Q	NM_020133.2	NP_064518.1	0	0	0	1.973144	Q9NRZ5	PLCD_HUMAN		2	352	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	1	1	hg19	c.140G>A	CCDS5280.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025019	0.75390	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.054761	0.64402	D	0.000002	T	0.64148	0.2572	M	0.80028	2.48	0.80722	D	1	D;P;D;P	0.89917	1.0;0.852;1.0;0.47	D;B;D;B	0.91635	0.999;0.054;0.997;0.063	T	0.66976	-0.5787	10	0.66056	D	0.02	-41.1725	19.8351	0.96655	0.0:1.0:0.0:0.0	.	47;47;47;47	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	Q	47	ENSP00000355878:R47Q;ENSP00000314036:R47Q;ENSP00000407007:R47Q;ENSP00000355875:R47Q;ENSP00000355872:R47Q	ENSP00000314036:R47Q	R	-	2	0	0	AGPAT4	161573096	161573096	1.000000	0.71417	0.845000	0.33349	0.420000	0.31355	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-2.605100	1	0.170000	NM_020133			45	43		208	198	1		1	1		0	0	54	0		1	9.997638e-01	0	14	0	47	0	45	208
GMDS	2762	broad.mit.edu	37	6	1624761	1624761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.G304G	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	334					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTGCAGTCGCCCTGCAGAA	0.667																																						ENST00000380815.4	0.660000	0.120000	4.900000e-01	2.100000e-01	0.330000	0.359077	0.330000	0.310000																									GMDS/PDE8B(2)	0				21						c.(1000-1002)ggC>ggT		GDP-mannose 4,6-dehydratase							33.0	35.0	34.0					6																	1624761		2203	4300	6503	SO:0001819	synonymous_variant	2762	0	0					g.chr6:1624761G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1002C>T	chr6.hg19:g.1624761G>A		0					GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	p.G334G	NM_001500.3	NP_001491.1	0	0	0	1.967613	O60547	GMDS_HUMAN		10	1271	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	0	1	hg19	c.1002C>T	CCDS4474.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3	0	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-6.983386	1	0.170000				5	5		181	179	0		1	1		0	0	37	0		9.366132e-01	9.999835e-01	0	32	0	1354	0	5	181
GMPR	2766	broad.mit.edu	37	6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	146					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448																																						ENST00000259727.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(436-438)Cgt>Tgt		guanosine monophosphate reductase							179.0	167.0	171.0					6																	16254937		2203	4300	6503	SO:0001583	missense	2766	2	121412	33				g.chr6:16254937C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.436C>T	chr6.hg19:g.16254937C>T	ENSP00000259727:p.Arg146Cys	0						p.R146C	NM_006877.3	NP_006868.3	0	0	0	1.967613	P36959	GMPR1_HUMAN		4	550	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	1	1	hg19	c.436C>T	CCDS4537.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664263	0.88251	.	.	ENSG00000137198	ENST00000259727	T	0.80824	-1.42	5.65	5.65	0.86999	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.047756	0.85682	D	0.000000	D	0.94238	0.8150	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96190	0.9137	10	0.87932	D	0	-2.5434	19.7405	0.96228	0.0:1.0:0.0:0.0	.	146	P36959	GMPR1_HUMAN	C	146	ENSP00000259727:R146C	ENSP00000259727:R146C	R	+	1	0	0	GMPR	16362916	16362916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.655000	0.90218	0.655000	0.94253	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2	1	0	1		2	2	2	0		0	0	143		143	140	1	2.060000	-2.543593	1	0.170000				110	106		510	502	1		1	1		0	0	143	0		1	9.996711e-01	0	11	0	45	0	110	510
PARK2	5071	broad.mit.edu	37	6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		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.T240M(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)		GTCTGTGCACGTAATGCAAGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20153	0.0		0.0	False		,,,				2504	0.001					ENST00000366898.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T240M(1)	upper_aerodigestive_tract(1)	39	GRCh37	CM030926|CM983422	PARK2	M	rs137853054	c.(718-720)aCg>aTg		parkin RBR E3 ubiquitin protein ligase		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	237.0	182.0	201.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	719,635,272	5.1	0.3	6	dbSNP_133	201	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	240/466,212/438,91/317	162394349	2,13004	2203	4300	6503	SO:0001583	missense	5071	35	121412	49				g.chr6:162394349G>A		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.719C>T	chr6.hg19:g.162394349G>A	ENSP00000355865:p.Thr240Met	0					PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M	p.T240M	NM_004562.2	NP_004553.2	0	0	0	1.973144	O60260	PRKN2_HUMAN		6	821	-		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)	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	1	1	hg19	c.719C>T	CCDS5281.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086777	0.55861	0.0	2.33E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.92858	-2.8;-2.91;-3.12;-2.51;-2.51;-2.88	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.278693	0.35525	N	0.003154	D	0.92463	0.7607	L	0.56769	1.78	0.24015	N	0.99616	D;D;P;P;P	0.62365	0.991;0.965;0.933;0.884;0.94	P;P;B;B;B	0.59643	0.861;0.472;0.317;0.317;0.366	D	0.87630	0.2515	10	0.56958	D	0.05	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	240;91;212;240;49	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	240;212;91;49;49;49;240;161	ENSP00000355865:T240M;ENSP00000355863:T212M;ENSP00000355862:T91M;ENSP00000355860:T49M;ENSP00000343589:T49M;ENSP00000355858:T240M	ENSP00000343589:T49M	T	-	2	0	0	PARK2	162314339	162314339	0.987000	0.35691	0.299000	0.25016	0.867000	0.49689	6.594000	0.74104	2.550000	0.86006	0.650000	0.86243	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.402217	1	0.170000				59	57		207	204	1		1	0		0	0	48	0		1	5.076846e-02	0	0	0	2	0	59	207
ATXN1	6310	broad.mit.edu	37	6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	614	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				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)			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)				CCTCTCTACGGTGCTGGAGTC	0.552																																						ENST00000244769.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1840-1842)aCc>aTc		ataxin 1							88.0	88.0	88.0					6																	16326701		2203	4300	6503	SO:0001583	missense	6310	0	0					g.chr6:16326701G>A	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.1841C>T	chr6.hg19:g.16326701G>A	ENSP00000244769:p.Thr614Ile	0					ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	p.T614I	NM_000332.3	NP_000323.2	0	0	0	1.967613	P54253	ATX1_HUMAN		8	2777	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	1	1	hg19	c.1841C>T	CCDS34342.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889332	0.72524	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.45	4.45	0.53987	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.048732	0.85682	D	0.000000	D	0.86723	0.6001	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88471	0.3062	10	0.87932	D	0	-17.0797	17.2893	0.87150	0.0:0.0:1.0:0.0	.	614	P54253	ATX1_HUMAN	I	614	ENSP00000244769:T614I;ENSP00000416360:T614I	ENSP00000244769:T614I	T	-	2	0	0	ATXN1	16434680	16434680	1.000000	0.71417	0.931000	0.37212	0.741000	0.42261	9.125000	0.94402	2.307000	0.77673	0.561000	0.74099	ACC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_000332			97	97		429	424	1		1	1		0	0	74	0		1	9.985028e-01	0	4	0	41	0	97	429
PARK2	5071	broad.mit.edu	37	6	162622162	162622162	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366892.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						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)			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)		CATTTCCTTACCTGGGTCAAG	0.468																																						ENST00000366898.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.e4+1		parkin RBR E3 ubiquitin protein ligase							103.0	92.0	95.0					6																	162622162		2203	4300	6503	SO:0001630	splice_region_variant	5071	0	0					g.chr6:162622162C>T		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.534+1G>A	chr6.hg19:g.162622162C>T		0					PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site		NM_004562.2	NP_004553.2	0	0	0	1.973144	O60260	PRKN2_HUMAN		4	637	-		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)	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	1	1	hg19		CCDS5281.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248666	0.80024	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.72	5.72	0.89469	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3813	0.74658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PARK2	162542152	162542152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.883000	0.56168	2.688000	0.91661	0.643000	0.83706	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000		Intron		68	67		276	273	1		1			0	0	53	0		1	0	0	0	0	0	0	68	276
PACRG	135138	broad.mit.edu	37	6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	175					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				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)		CTCCAGCATCTGGTTGTGTCA	0.458																																						ENST00000337019.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(523-525)cTg>cGg		PARK2 co-regulated							150.0	128.0	136.0					6																	163510351		2203	4300	6503	SO:0001583	missense	135138	0	0					g.chr6:163510351T>G	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.524T>G	chr6.hg19:g.163510351T>G	ENSP00000337946:p.Leu175Arg	0					PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	p.L175R	NM_152410.2	NP_689623.2	0	0	0	1.973144	Q96M98	PACRG_HUMAN		5	748	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	1	1	hg19	c.524T>G	CCDS5284.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.659151|4.659151	0.88154|0.88154	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.73258|.	-0.67;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82135|0.82135	0.4971|0.4971	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.86591|0.86591	0.1860|0.1860	10|5	0.87932|.	D|.	0|.	-15.6516|-15.6516	15.8327|15.8327	0.78769|0.78769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;175|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	R|G	175|33	ENSP00000337946:L175R;ENSP00000355855:L175R;ENSP00000355854:L175R|.	ENSP00000337946:L175R|.	L|W	+|+	2|1	0|0	0|0	PACRG|PACRG	163430341|163430341	163430341|163430341	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.959000|0.959000	0.62525|0.62525	7.227000|7.227000	0.78070|0.78070	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTG|TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_152410			93	92		419	414	1		1	0		0	0	87	0		1	0	0	0	0	1	0	93	419
QKI	9444	broad.mit.edu	37	6	163836318	163836318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000453779.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L	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	31					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.L31L(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)		TGAGCAGCCTGCCCAACTTCT	0.642																																						ENST00000361752.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.L31L(1)	large_intestine(1)	27						c.(91-93)ctG>ctA		QKI, KH domain containing, RNA binding							93.0	91.0	92.0					6																	163836318		2203	4300	6503	SO:0001819	synonymous_variant	9444	0	0					g.chr6:163836318G>A	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.93G>A	chr6.hg19:g.163836318G>A		0					QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000453779.2_Silent_p.L31L	p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	0	0	0	1.973144	Q96PU8	QKI_HUMAN		1	644	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	1	1	hg19	c.93G>A	CCDS5285.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_006775			61	60		297	295	0		1	1		0	0	84	0		1	1	0	18	0	182	0	61	297
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000230301.8	-	2	747	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										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)		TCGTGGCCCGCGGCCGCCTTG	0.607																																						ENST00000230301.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(727-729)Gcg>Acg		chromosome 6 open reading frame 118							51.0	53.0	52.0					6																	165715084		2203	4300	6503	SO:0001583	missense	168090	3	121410	36				g.chr6:165715084C>T		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.727G>A	chr6.hg19:g.165715084C>T	ENSP00000230301:p.Ala243Thr	0					C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	p.A243T	NM_144980.3	NP_659417.2	0	0	0	1.973144	Q5T5N4	CF118_HUMAN		2	747	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	1	1	hg19	c.727G>A	CCDS5288.1	1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836530	0.16891	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	4.92	-9.32	0.00643	4.92	-9.32	0.00643	.	3.383220	0.00839	N	0.001730	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.25984	-1.0116	10	0.14656	T	0.56	0.9594	7.83	0.29336	0.0:0.2349:0.4167:0.3484	.	243	Q5T5N4	CF118_HUMAN	T	243;139	ENSP00000230301:A243T;ENSP00000439288:A139T	ENSP00000230301:A243T	A	-	1	0	0	C6orf118	165635074	165635074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.956000	0.01522	-2.139000	0.00807	-1.239000	0.01543	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_144980			73	71		371	358	1		1			0	0	71	0		1	0	0	0	0	0	0	73	371
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										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)		CCTTCATCCTCGCCACCTTCC	0.682																																						ENST00000230301.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(307-309)gcG>gcA		chromosome 6 open reading frame 118							61.0	65.0	63.0					6																	165715502		2203	4300	6503	SO:0001819	synonymous_variant	168090	0	0					g.chr6:165715502C>T		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.309G>A	chr6.hg19:g.165715502C>T		0					C6orf118_ENST00000543069.1_5'UTR	p.A103A	NM_144980.3	NP_659417.2	0	0	0	1.973144	Q5T5N4	CF118_HUMAN		2	329	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	Q8TC11	Silent	SNP	ENST00000230301.8	1	1	hg19	c.309G>A	CCDS5288.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	0	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-3.069831	1	0.170000	NM_144980			95	95		418	414	1		1			0	0	90	0		1	0	0	0	0	0	0	95	418
C6orf118	168090	broad.mit.edu	37	6	165715758	165715758	+	Missense_Mutation	SNP	G	G	A	rs191807161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000230301.8	-	2	73	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	18								p.T18M(2)		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)		CACGCCTGGCGTCTCGCAGTG	0.512													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18336	0.0		0.0	False		,,,				2504	0.0					ENST00000230301.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T18M(2)	large_intestine(1)|prostate(1)	40						c.(52-54)aCg>aTg		chromosome 6 open reading frame 118		G	MET/THR	0,4406		0,0,2203	51.0	55.0	53.0		53	-2.9	0.0	6		53	1,8599		0,1,4299	no	missense	C6orf118	NM_144980.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	18/470	165715758	1,13005	2203	4300	6503	SO:0001583	missense	168090	7	121410	41				g.chr6:165715758G>A		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.53C>T	chr6.hg19:g.165715758G>A	ENSP00000230301:p.Thr18Met	0					C6orf118_ENST00000543069.1_De_novo_Start_InFrame	p.T18M	NM_144980.3	NP_659417.2	0	0	0	1.973144	Q5T5N4	CF118_HUMAN		2	73	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	1	0	hg19	c.53C>T	CCDS5288.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	9.290	1.050372	0.19827	0.0	1.16E-4	ENSG00000112539	ENST00000230301	T	0.13089	2.62	4.36	-2.87	0.05700	4.36	-2.87	0.05700	.	0.749003	0.12202	N	0.490169	T	0.02156	0.0067	L	0.31065	0.9	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43261	-0.9402	10	0.48119	T	0.1	.	1.2184	0.01918	0.4093:0.1572:0.2895:0.1439	.	18	Q5T5N4	CF118_HUMAN	M	18	ENSP00000230301:T18M	ENSP00000230301:T18M	T	-	2	0	0	C6orf118	165635748	165635748	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	0.098000	0.15189	-0.451000	0.07097	-0.224000	0.12420	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_144980			68	68		317	312	1		1			0	0	63	0		1	0	0	0	0	0	0	68	317
PDE10A	10846	broad.mit.edu	37	6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	739					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)			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)	AGAAGAGGCTCCGTGGGAGGG	0.463																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999413	0.990000	1.000000																										0				71						c.(2215-2217)Gag>Aag		phosphodiesterase 10A	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)						94.0	88.0	90.0					6																	165749634		2203	4300	6503	SO:0001583	missense	10846	0	0					g.chr6:165749634C>T	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.2215G>A	chr6.hg19:g.165749634C>T	ENSP00000355847:p.Glu739Lys	0					PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K	p.E739K			0	0	0	1.973144	Q9Y233	PDE10_HUMAN		22	2369	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	1	1	hg19	c.2215G>A		1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384630	0.11524	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76578	-1.03;-1.03	5.4	5.4	0.78164	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.307106	0.39909	N	0.001232	T	0.39572	0.1083	N	0.11789	0.175	0.22918	N	0.998562	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.002	T	0.05767	-1.0865	10	0.07325	T	0.83	.	15.0715	0.72040	0.0:0.8585:0.1415:0.0	.	749;739	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	739;767;749;739;738	ENSP00000355847:E739K;ENSP00000346435:E739K	ENSP00000341187:E749K	E	-	1	0	0	PDE10A	165669624	165669624	0.766000	0.28496	0.470000	0.27216	0.695000	0.40330	1.776000	0.38594	2.681000	0.91329	0.655000	0.94253	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000				24	24		141	133	1		1	0		0	0	47	0		9.999997e-01	3.974613e-01	0	0	0	9	0	24	141
PDE10A	10846	broad.mit.edu	37	6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	624					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)			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)	AAAGCAAGGTCTGTGGCAATG	0.403																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1870-1872)Gac>Tac		phosphodiesterase 10A	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)						146.0	137.0	140.0					6																	165792768		2203	4300	6503	SO:0001583	missense	10846	0	0					g.chr6:165792768C>A	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.1870G>T	chr6.hg19:g.165792768C>A	ENSP00000355847:p.Asp624Tyr	0					PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y	p.D624Y			0	0	0	1.973144	Q9Y233	PDE10_HUMAN		19	2024	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	1	1	hg19	c.1870G>T		1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991485	0.93106	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90844	-2.74;-2.74	5.95	5.95	0.96441	5.95	5.95	0.96441	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	0.96800	0.8955	M	0.93854	3.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96914	0.9669	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;624	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	624;652;634;624;623	ENSP00000355847:D624Y;ENSP00000346435:D624Y	ENSP00000341187:D634Y	D	-	1	0	0	PDE10A	165712758	165712758	1.000000	0.71417	0.020000	0.16555	0.990000	0.78478	7.207000	0.77899	2.824000	0.97209	0.655000	0.94253	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-3.391845	1	0.170000				112	110		472	464	1		1	0		0	0	79	0		1	6.538199e-01	0	0	0	11	0	112	472
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					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.R420K(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)	GTGGCGAATTCTATGATACAT	0.373																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R420K(1)	lung(1)	71						c.(1258-1260)aGa>aAa		phosphodiesterase 10A	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)						145.0	127.0	133.0					6																	165809938		2203	4300	6503	SO:0001583	missense	10846	0	0					g.chr6:165809938C>T	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.1259G>A	chr6.hg19:g.165809938C>T	ENSP00000355847:p.Arg420Lys	0					PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K	p.R420K			0	0	0	1.973144	Q9Y233	PDE10_HUMAN		15	1413	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	1	1	hg19	c.1259G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	0	PDE10A	165729928	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.190780	1	0.170000				84	84		392	385	1		1	1		0	0	90	0		1	4.927538e-01	0	2	0	7	0	84	392
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	G	A	rs201970663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	122					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	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 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 (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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652									Chordoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0					ENST00000296946.2	0.870000	0.470000	7.700000e-01	5.600000e-01	0.660000	0.672248	0.660000	0.660000																										0				39						c.(364-366)tgC>tgT		T, brachyury homolog (mouse)							50.0	55.0	53.0					6																	166580185		2203	4300	6503	SO:0001819	synonymous_variant	6862	1	121412	28	Chordoma, Familial Clustering of	Familial Cancer Database		g.chr6:166580185G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.366C>T	chr6.hg19:g.166580185G>A		0					T_ENST00000366871.3_Silent_p.C122C	p.C122C	NM_003181.3	NP_003172.1	0	0	0	1.973144	O15178	BRAC_HUMAN		3	834	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	1	1	hg19	c.366C>T	CCDS5290.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	1	0	1		2	2	2	0		0	0	110		110	106	1	2.060000	-20.000000	1	0.170000	NM_003181			38	38		629	611	0		1			0	0	110	0		1	0	0	0	0	0	0	38	629
RPS6KA2	6196	broad.mit.edu	37	6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000265678.4	-	20	2285	c.2062G>A	c.(2062-2064)Gtg>Atg	p.V688M	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	688					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)			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)		ACCAGGTGCACGTCCTGTCGG	0.577																																						ENST00000265678.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.995145	0.990000	1.000000																										0				45						c.(2062-2064)Gtg>Atg		ribosomal protein S6 kinase, 90kDa, polypeptide 2							102.0	79.0	86.0					6																	166827296		2203	4300	6503	SO:0001583	missense	6196	0	0					g.chr6:166827296C>T	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.2062G>A	chr6.hg19:g.166827296C>T	ENSP00000265678:p.Val688Met	0					RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M	p.V688M	NM_021135.4	NP_066958.2	0	0	0	1.973144	Q15349	KS6A2_HUMAN		20	2285	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	1	1	hg19	c.2062G>A	CCDS5294.1	1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393308	0.42410	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.99	3.99	0.46301	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.410486	0.24276	N	0.039959	T	0.22936	0.0554	L	0.40543	1.245	0.80722	D	1	B;B;D	0.61080	0.302;0.287;0.989	B;B;B	0.42087	0.029;0.064;0.375	T	0.02519	-1.1147	10	0.29301	T	0.29	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	713;696;688	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	688;713;696;599;599	ENSP00000265678:V688M;ENSP00000422435:V713M;ENSP00000427015:V696M;ENSP00000422484:V599M;ENSP00000386050:V599M	ENSP00000265678:V688M	V	-	1	0	0	RPS6KA2	166747286	166747286	0.979000	0.34478	0.934000	0.37439	0.863000	0.49368	3.460000	0.53028	2.245000	0.73994	0.478000	0.44815	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1		2	2	2	0		0	0	50		50	47	1	2.060000	-20.000000	1	0.170000	NM_021135			23	20		168	161	1		1	1		0	0	50	0		9.999992e-01	9.996814e-01	0	9	0	88	0	23	168
RPS6KA2	6196	broad.mit.edu	37	6	166864717	166864717	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000265678.4	-	13	1303	c.1080T>G	c.(1078-1080)tcT>tcG	p.S360S	RPS6KA2_ENST00000510118.1_Silent_p.S385S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000481261.2_Silent_p.S271S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	360	AGC-kinase C-terminal.				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)			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)		GGACGCCAGGAGAGTCTGTAG	0.552																																						ENST00000265678.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1078-1080)tcT>tcG		ribosomal protein S6 kinase, 90kDa, polypeptide 2							103.0	102.0	103.0					6																	166864717		2203	4300	6503	SO:0001819	synonymous_variant	6196	0	0					g.chr6:166864717A>C	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.1080T>G	chr6.hg19:g.166864717A>C		0					RPS6KA2_ENST00000481261.2_Silent_p.S271S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000510118.1_Silent_p.S385S	p.S360S	NM_021135.4	NP_066958.2	0	0	0	1.973144	Q15349	KS6A2_HUMAN		13	1303	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	1	1	hg19	c.1080T>G	CCDS5294.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000	NM_021135			87	86		426	416	1		1	1		0	0	110	0		1	9.999999e-01	0	7	0	112	0	87	426
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000265678.4	-	10	1060	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000510118.1_Silent_p.P304P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	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.P287P(1)|p.P279P(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)		TGAGGAACTGCGGCATCCCCA	0.537																																						ENST00000265678.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999197	0.990000	1.000000																										2	Substitution - coding silent(2)	p.P287P(1)|p.P279P(1)	large_intestine(2)	45						c.(835-837)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 2							46.0	45.0	46.0					6																	166902391		2203	4300	6503	SO:0001819	synonymous_variant	6196	0	0					g.chr6:166902391C>T	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.837G>A	chr6.hg19:g.166902391C>T		0					RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000510118.1_Silent_p.P304P	p.P279P	NM_021135.4	NP_066958.2	0	0	0	1.973144	Q15349	KS6A2_HUMAN		10	1060	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	1	1	hg19	c.837G>A	CCDS5294.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-3.362961	1	0.170000	NM_021135			20	19		111	108	1		1	1		0	0	30	0		9.999963e-01	9.999150e-01	0	7	0	84	0	20	111
RPS6KA2	6196	broad.mit.edu	37	6	166912074	166912074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000265678.4	-	8	892	c.669C>T	c.(667-669)atC>atT	p.I223I	RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000510118.1_Silent_p.I248I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000481261.2_Silent_p.I134I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	223	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)			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)		CCATGTACTCGATCGTCCCGC	0.597																																						ENST00000265678.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(667-669)atC>atT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							198.0	130.0	153.0					6																	166912074		2203	4300	6503	SO:0001819	synonymous_variant	6196	3	121412	35				g.chr6:166912074G>A	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.669C>T	chr6.hg19:g.166912074G>A		0					RPS6KA2_ENST00000481261.2_Silent_p.I134I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000510118.1_Silent_p.I248I	p.I223I	NM_021135.4	NP_066958.2	0	0	0	1.973144	Q15349	KS6A2_HUMAN		8	892	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	1	1	hg19	c.669C>T	CCDS5294.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1		2	2	2	0		0	0	61		61	58	1	2.060000	-3.561499	1	0.170000	NM_021135			73	71		301	298	1		1	1		0	0	61	0		1	1	0	6	0	104	0	73	301
RNASET2	8635	broad.mit.edu	37	6	167344532	167344532	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000508775.1	-	8	1086	c.567G>T	c.(565-567)caG>caT	p.Q189H	RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000496851.2_5'Flank|RNASET2_ENST00000366855.6_Splice_Site_p.Q151H|RP11-514O12.4_ENST00000507747.1_Intron	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	189					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)			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)		ACTGTCTAACCTGGCTTGGTG	0.418																																						ENST00000508775.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(565-567)caG>caT		ribonuclease T2							161.0	152.0	155.0					6																	167344532		2203	4300	6503	SO:0001630	splice_region_variant	8635	0	0					g.chr6:167344532C>A	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.567+1G>T	chr6.hg19:g.167344532C>A		0					RNASET2_ENST00000366855.6_Splice_Site_p.Q151H|RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000496851.2_5'Flank|RP11-514O12.4_ENST00000507747.1_Intron	p.Q189H	NM_003730.4	NP_003721.2	0	0	0	1.973144	O00584	RNT2_HUMAN		8	1086	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Splice_Site	SNP	ENST00000508775.1	1	0	hg19	c.567G>T	CCDS5295.1	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379746	0.42207	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.705587	0.14459	N	0.318337	D	0.82527	0.5056	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.925	T	0.81769	-0.0781	9	.	.	.	-17.1781	14.7166	0.69275	0.0:1.0:0.0:0.0	.	239;189	C9JIU8;O00584	.;RNT2_HUMAN	H	151;189;239;189;189	ENSP00000424947:Q151H;ENSP00000426455:Q189H;ENSP00000422846:Q189H;ENSP00000426059:Q189H	.	Q	-	3	2	2	RNASET2	167264522	167264522	1.000000	0.71417	0.212000	0.23672	0.083000	0.17756	3.989000	0.56958	2.045000	0.60652	0.563000	0.77884	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-3.029493	1	0.170000	NM_003730	Missense_Mutation		110	110		479	470	1		1	0		0	0	132	0		1	1	0	1	0	2067	0	110	479
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	C	T	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				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)			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)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"""MPD, NHL"""																																	ENST00000366847.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997992	0.990000	1.000000				Dom	yes			Dom	yes		6	6q27	6q27	11116	T	FGFR1 oncogene partner (FOP)				L	L	FGFR1		MPD, NHL		0				4						c.(208-210)gaC>gaT		FGFR1 oncogene partner		C	,	0,4406		0,0,2203	68.0	75.0	73.0		210,210	0.3	1.0	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC		0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant	11116	17	121376	42				g.chr6:167416734C>T	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.211+1C>T	chr6.hg19:g.167416734C>T		0					FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR	p.D70D	NM_007045.2	NP_008976.1	0	0	0	1.973144	O95684	FR1OP_HUMAN		3	441	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Splice_Site	SNP	ENST00000366847.4	1	0	hg19	c.210C>T	CCDS5296.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_007045	Silent		26	26		179	178	1		1	1		0	0	39	0		9.999999e-01	9.339642e-01	0	10	0	24	0	26	179
CCR6	1235	broad.mit.edu	37	6	167550300	167550300	+	Silent	SNP	C	C	T	rs201679638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S194S|CCR6_ENST00000349984.4_Silent_p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	194					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493																																						ENST00000341935.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(580-582)agC>agT		chemokine (C-C motif) receptor 6							113.0	102.0	106.0					6																	167550300		2203	4300	6503	SO:0001819	synonymous_variant	1235	1	121412	39				g.chr6:167550300C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.582C>T	chr6.hg19:g.167550300C>T		0					CCR6_ENST00000400926.2_Silent_p.S194S|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Silent_p.S194S	p.S194S	NM_031409.3	NP_113597.2	0	0	0	1.973144	P51684	CCR6_HUMAN		3	1134	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	1	1	hg19	c.582C>T	CCDS5298.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				96	97		364	360	0		1	0		0	0	85	0		1	6.481956e-01	0	1	0	9	0	96	364
UNC93A	54346	broad.mit.edu	37	6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A	rs376773048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617																																						ENST00000230256.3	1.000000	0.670000	9.800000e-01	7.600000e-01	0.860000	0.868068	0.860000	1.000000																										0				40						c.(262-264)Gcc>Acc		unc-93 homolog A (C. elegans)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	151.0	142.0	145.0		262,262	3.7	0.8	6		145	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	88/416,88/458	167708179	2,13004	2203	4300	6503	SO:0001583	missense	54346	2	121370	42				g.chr6:167708179G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.262G>A	chr6.hg19:g.167708179G>A	ENSP00000230256:p.Ala88Thr	0					UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	p.A88T	NM_018974.3	NP_061847.2	0	0	0	1.973144	Q86WB7	UN93A_HUMAN		2	437	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	1	1	hg19	c.262G>A	CCDS5300.1	1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491407	0.44249	0.0	2.33E-4	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.83673	-1.75;-1.75;-1.75	4.66	3.72	0.42706	4.66	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);	0.115273	0.64402	D	0.000015	T	0.80984	0.4729	M	0.70275	2.135	0.49213	D	0.999765	P;P	0.48230	0.882;0.907	B;P	0.49276	0.418;0.605	T	0.82092	-0.0628	10	0.45353	T	0.12	-26.7025	13.2564	0.60081	0.0:0.1604:0.8396:0.0	.	88;88	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	88	ENSP00000421484:A88T;ENSP00000230256:A88T;ENSP00000355794:A88T	ENSP00000230256:A88T	A	+	1	0	0	UNC93A	167628169	167628169	0.991000	0.36638	0.833000	0.33012	0.410000	0.31052	2.345000	0.44018	2.124000	0.65301	0.313000	0.20887	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	1	0	1		2	2	2	0		0	0	166		166	162	1	2.060000	-2.402340	0	0.170000	NM_018974			63	63		780	752	0		1			0	0	166	0		1	0	0	0	0	0	0	63	780
MLLT4	4301	broad.mit.edu	37	6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000447894.2	+	11	1435	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	479	FHA.				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)			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)		GCGCATCTCAGAAACCACCAT	0.517			T	MLL	AL																																	ENST00000447894.2	1.000000	0.330000	8.100000e-01	4.600000e-01	0.620000	0.641091	0.620000	1.000000				Dom	yes			Dom	yes		6	6q27	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""				L	L	MLL		AL		0				65						c.(1435-1437)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99.0	84.0	89.0					6																	168299002		2203	4300	6503	SO:0001587	stop_gained	4301	0	0					g.chr6:168299002G>T	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.1435G>T	chr6.hg19:g.168299002G>T	ENSP00000404595:p.Glu479*	0					MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*	p.E479*			0	0	0	1.973144	P55196	AFAD_HUMAN		11	1435	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	0	1	hg19	c.1435G>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.003798|8.003798	0.98605|0.98605	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.052104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.52906|.	T|.	0.07|.	-39.2566|-39.2566	19.5218|19.5218	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	479;479;479;479;463;479;478;479|177	.|.	ENSP00000345834:E479X|.	E|R	+|+	1|2	0|0	0|0	MLLT4|MLLT4	168041851|168041851	168041851|168041851	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.919000|0.919000	0.55068|0.55068	9.607000|9.607000	0.98328|0.98328	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	GAA|AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-13.806430	1	0.170000	NM_005936			11	11		198	195	0		1	1		0	0	52	0		9.983388e-01	9.604992e-01	0	5	0	97	0	11	198
MLLT4	4301	broad.mit.edu	37	6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000447894.2	+	15	1874	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	625					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)			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)		TATACTAATAGCTCTACAGTC	0.348			T	MLL	AL																																	ENST00000447894.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q27	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""				L	L	MLL		AL		0				65						c.(1873-1875)aGc>aTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							93.0	97.0	96.0					6																	168312006		2203	4300	6503	SO:0001583	missense	4301	0	0					g.chr6:168312006G>T	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.1874G>T	chr6.hg19:g.168312006G>T	ENSP00000404595:p.Ser625Ile	0					MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I	p.S625I			0	0	0	1.973144	P55196	AFAD_HUMAN		15	1874	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	1	1	hg19	c.1874G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626529|4.626529	0.87560|0.87560	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.05025|.	3.71;3.62;3.71;3.72;3.51;3.62;3.62|.	5.45|5.45	5.45|5.45	0.79879|0.79879	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72301|.	0.3443|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.968;1.0;0.78;0.958|.	P;D;P;P|.	0.91635|.	0.661;0.999;0.673;0.772|.	T|.	0.71718|.	-0.4508|.	10|.	0.56958|.	D|.	0.05|.	-0.6453|-0.6453	19.2936|19.2936	0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;624;625;609|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	I|Y	625;625;625;625;609;625;624;625|323	ENSP00000341118:S625I;ENSP00000252692:S625I;ENSP00000375956:S625I;ENSP00000355771:S625I;ENSP00000375960:S609I;ENSP00000383623:S624I;ENSP00000404595:S625I|.	ENSP00000345834:S625I|.	S|X	+|+	2|3	0|2	0|2	MLLT4|MLLT4	168054855|168054855	168054855|168054855	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.983000|0.983000	0.72400|0.72400	9.273000|9.273000	0.95719|0.95719	2.554000|2.554000	0.86153|0.86153	0.467000|0.467000	0.42956|0.42956	AGC|TAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_005936			71	71		421	413	1		1	1		0	0	105	0		1	9.999776e-01	0	21	0	72	0	71	421
MLLT4	4301	broad.mit.edu	37	6	168352003	168352003	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000447894.2	+	29	3948	c.3948C>A	c.(3946-3948)acC>acA	p.T1316T	MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000366806.2_Silent_p.T1316T|MLLT4_ENST00000344191.4_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1316					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)			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)		ACTCCAGTACCTCTAGCCAGG	0.512			T	MLL	AL																																	ENST00000447894.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q27	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""				L	L	MLL		AL		0				65						c.(3946-3948)acC>acA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							92.0	102.0	99.0					6																	168352003		2203	4300	6503	SO:0001819	synonymous_variant	4301	0	0					g.chr6:168352003C>A	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.3948C>A	chr6.hg19:g.168352003C>A		0					MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000366806.2_Silent_p.T1316T	p.T1316T			0	0	0	1.973144	P55196	AFAD_HUMAN		29	3948	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	1	1	hg19	c.3948C>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	0	1		17	5	2	1		1	1	112		112	111	1	2.060000	-3.784958	1	0.170000	NM_005936			111	111		427	423	1		1	1		1	0	112	0		1	9.998001e-01	0	25	0	54	0	111	427
MLLT4	4301	broad.mit.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					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.R1634C(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)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																	ENST00000447894.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6q27	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""				L	L	MLL		AL		1	Substitution - Missense(1)	p.R1634C(1)	kidney(1)	65						c.(4900-4902)Cgc>Tgc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	112.0	104.0					6																	168363200		2029	4170	6199	SO:0001583	missense	4301	2	120976	33				g.chr6:168363200C>T	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.4900C>T	chr6.hg19:g.168363200C>T	ENSP00000404595:p.Arg1634Cys	0					MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C	p.R1634C			0	0	0	1.973144	P55196	AFAD_HUMAN		30	4900	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	1	1	hg19	c.4900C>T		1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	0	MLLT4	168106049	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_005936			118	116		620	610	1		1	1		0	0	107	0		1	1	0	26	0	128	0	118	620
FRMD1	79981	broad.mit.edu	37	6	168461613	168461613	+	Silent	SNP	G	G	A	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	390						cytoskeleton (GO:0005856)				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)		CGTGGCTGTCGGCGGAGTGGC	0.642																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6	1.000000	0.710000	1	8.500000e-01	0.990000	0.948372	0.990000	1.000000																										0				19						c.(1168-1170)gcC>gcT		FERM domain containing 1							53.0	46.0	49.0					6																	168461613		2203	4300	6503	SO:0001819	synonymous_variant	79981	12	121396	47				g.chr6:168461613G>A		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.1170C>T	chr6.hg19:g.168461613G>A		0					FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000432403.1_5'UTR	p.A390A	NM_024919.3	NP_079195.3	0	0	0	1.973144	Q8N878	FRMD1_HUMAN		9	1234	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	1	1	hg19	c.1170C>T	CCDS5306.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-10.088790	1	0.170000	NM_024919			29	27		298	293	0		1			0	0	54	0		1	0	0	0	0	0	0	29	298
FRMD1	79981	broad.mit.edu	37	6	168465674	168465674	+	Silent	SNP	G	G	A	rs376956774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	175	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				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)		CCCGGTGAGCGCACTGTGACC	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				19						c.(523-525)tgC>tgT		FERM domain containing 1		G	,	0,4406		0,0,2203	64.0	55.0	58.0		321,525	-0.3	0.0	6		58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	107/482,175/550	168465674	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79981	8	121402	40				g.chr6:168465674G>A		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.525C>T	chr6.hg19:g.168465674G>A		0					FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000432403.1_5'UTR	p.C175C	NM_024919.3	NP_079195.3	0	0	0	1.973144	Q8N878	FRMD1_HUMAN		5	589	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	1	1	hg19	c.525C>T	CCDS5306.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_024919			29	29		124	124	1		1			0	0	29	0		1	0	0	0	0	0	0	29	124
FRMD1	79981	broad.mit.edu	37	6	168479680	168479680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168479680G>T	ENST00000283309.6	-	1	159	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	32						cytoskeleton (GO:0005856)				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)		AGGCCTCTCAGGACTGGGTTC	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6	0.690000	0.280000	5.800000e-01	3.600000e-01	0.460000	0.477736	0.460000	0.450000																										0				19						c.(94-96)cCt>cAt		FERM domain containing 1							67.0	65.0	66.0					6																	168479680		2203	4300	6503	SO:0001583	missense	79981	0	0					g.chr6:168479680G>T		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.95C>A	chr6.hg19:g.168479680G>T	ENSP00000283309:p.Pro32His	0						p.P32H	NM_024919.3	NP_079195.3	0	0	0	1.973144	Q8N878	FRMD1_HUMAN		1	159	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	1	1	hg19	c.95C>A	CCDS5306.1	0	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163027	0.38217	.	.	ENSG00000153303	ENST00000283309;ENST00000511714	D	0.82619	-1.63	2.18	0.198	0.15168	2.18	0.198	0.15168	.	.	.	.	.	T	0.62925	0.2468	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.56183	-0.8021	9	0.44086	T	0.13	.	4.3029	0.10933	0.5868:0.0:0.4132:0.0	.	32	Q8N878	FRMD1_HUMAN	H	32;74	ENSP00000283309:P32H	ENSP00000283309:P32H	P	-	2	0	0	FRMD1	168222529	168222529	0.013000	0.17824	0.012000	0.15200	0.117000	0.20001	1.721000	0.38032	0.205000	0.20568	0.313000	0.20887	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	0	0	1		22	2	2	1		1	1	66		66	64	1	2.060000	-3.363162	1	0.170000	NM_024919			18	18		437	436	0		0			1	0	66	0		3.090050e-01	0	0	0	0	0	0	18	437
SMOC2	64094	broad.mit.edu	37	6	168949822	168949822	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000356284.2	+	7	796	c.576T>C	c.(574-576)cgT>cgC	p.R192R	SMOC2_ENST00000354536.5_Silent_p.R203R	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393																																						ENST00000356284.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(574-576)cgT>cgC		SPARC related modular calcium binding 2							183.0	154.0	164.0					6																	168949822		2203	4300	6503	SO:0001819	synonymous_variant	64094	0	0					g.chr6:168949822T>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.576T>C	chr6.hg19:g.168949822T>C		0					SMOC2_ENST00000354536.5_Silent_p.R203R	p.R192R	NM_001166412.1	NP_001159884.1	0	0	0	1.973144	Q9H3U7	SMOC2_HUMAN		7	796	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	1	1	hg19	c.576T>C	CCDS55076.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000				64	62		339	333	1		1	0		0	0	97	0		1	1	0	0	0	219	0	64	339
THBS2	7058	broad.mit.edu	37	6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	947					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)			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)		TTCAGGACACACATCATCAAT	0.428																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(2839-2841)gTg>gGg		thrombospondin 2							146.0	124.0	132.0					6																	169623504		2203	4300	6503	SO:0001583	missense	7058	0	0					g.chr6:169623504A>C		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.2840T>G	chr6.hg19:g.169623504A>C	ENSP00000355751:p.Val947Gly	0					THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.V947G	NM_003247.2	NP_003238.2	0	0	0	1.973144	P35442	TSP2_HUMAN		19	3089	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	1	1	hg19	c.2840T>G	CCDS34574.1	1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863967	0.71949	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.36972	U	0.002312	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.99445	1.0939	10	0.87932	D	0	-31.2608	14.2292	0.65879	1.0:0.0:0.0:0.0	.	947	P35442	TSP2_HUMAN	G	947;205	ENSP00000355751:V947G	ENSP00000355751:V947G	V	-	2	0	0	THBS2	169365429	169365429	1.000000	0.71417	0.996000	0.52242	0.777000	0.43975	6.838000	0.75359	1.747000	0.51819	0.386000	0.25728	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_003247			70	69		374	367	1		1	0		0	0	99	0		1	1	0	1	0	2148	0	70	374
THBS2	7058	broad.mit.edu	37	6	169625342	169625342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	ENST00000366787.3	-	18	2920	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	891					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)			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)		tcgccctggccgtctctgtca	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999179	0.990000	1.000000																										0				111						c.(2671-2673)Ggc>Agc		thrombospondin 2							216.0	184.0	195.0					6																	169625342		2203	4300	6503	SO:0001583	missense	7058	6	121388	35				g.chr6:169625342C>T		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.2671G>A	chr6.hg19:g.169625342C>T	ENSP00000355751:p.Gly891Ser	0					THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G891S	NM_003247.2	NP_003238.2	0	0	0	1.973144	P35442	TSP2_HUMAN		18	2920	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	0	1	hg19	c.2671G>A	CCDS34574.1	1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537232	0.65085	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98362	-4.89	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.41823	U	0.000803	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999992	D	0.89917	1.0	D	0.72625	0.978	D	0.99187	1.0869	10	0.87932	D	0	-58.2595	18.2818	0.90101	0.0:1.0:0.0:0.0	.	891	P35442	TSP2_HUMAN	S	891;149	ENSP00000355751:G891S	ENSP00000355751:G891S	G	-	1	0	0	THBS2	169367267	169367267	1.000000	0.71417	0.954000	0.39281	0.033000	0.12548	6.944000	0.75940	2.297000	0.77311	0.579000	0.79373	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-12.205370	1	0.170000	NM_003247			21	20		120	116	0		1	1		0	0	29	0		9.999980e-01	1	0	3	0	2274	0	21	120
THBS2	7058	broad.mit.edu	37	6	169632084	169632084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632084G>A	ENST00000366787.3	-	14	2391	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	714					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)			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)		CCTTGATGCAGTGGTAGGTGG	0.726																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3	0.520000	0.110000	4.000000e-01	1.800000e-01	0.270000	0.293369	0.270000	0.260000																										0				111						c.(2140-2142)caC>caT		thrombospondin 2							59.0	52.0	54.0					6																	169632084		2203	4299	6502	SO:0001819	synonymous_variant	7058	1	121402	24				g.chr6:169632084G>A		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.2142C>T	chr6.hg19:g.169632084G>A		0					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.H714H	NM_003247.2	NP_003238.2	0	0	0	1.973144	P35442	TSP2_HUMAN		14	2391	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	0	1	hg19	c.2142C>T	CCDS34574.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	0	0		2	2	2	0		0	0	51		51	48	1	2.060000	-7.282785	1	0.170000	NM_003247			6	6		264	261	0		1	0		0	0	51	0		9.642299e-01	9.999938e-01	0	0	0	1698	0	6	264
THBS2	7058	broad.mit.edu	37	6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	512	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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)		CGGATCCCACCGGCACAGGTG	0.677																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(1534-1536)Ggt>Agt		thrombospondin 2							43.0	44.0	44.0					6																	169634946		2202	4300	6502	SO:0001583	missense	7058	1	121400	32				g.chr6:169634946C>T		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.1534G>A	chr6.hg19:g.169634946C>T	ENSP00000355751:p.Gly512Ser	0					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G512S	NM_003247.2	NP_003238.2	0	0	0	1.973144	P35442	TSP2_HUMAN		11	1783	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	1	1	hg19	c.1534G>A	CCDS34574.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201210	0.58234	.	.	ENSG00000186340	ENST00000366787	T	0.51071	0.72	4.38	4.38	0.52667	4.38	4.38	0.52667	.	0.000000	0.40469	U	0.001090	T	0.38532	0.1044	M	0.71871	2.18	0.58432	D	0.999993	P	0.36378	0.55	B	0.35278	0.199	T	0.51888	-0.8648	10	0.59425	D	0.04	-25.311	17.2925	0.87160	0.0:1.0:0.0:0.0	.	512	P35442	TSP2_HUMAN	S	512	ENSP00000355751:G512S	ENSP00000355751:G512S	G	-	1	0	0	THBS2	169376871	169376871	1.000000	0.71417	0.079000	0.20413	0.269000	0.26545	5.587000	0.67510	2.150000	0.67090	0.590000	0.80494	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.415967	1	0.170000	NM_003247			74	72		312	302	1		1	0		0	0	66	0		1	1	0	1	0	1121	0	74	312
WDR27	253769	broad.mit.edu	37	6	170058377	170058377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170058377C>T	ENST00000448612.1	-	13	1506	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000333572.6_Missense_Mutation_p.R466Q	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	436						nucleus (GO:0005634)		p.R466L(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)		CTGACCACGTCGCTGTTCACT	0.488																																						ENST00000448612.1	1.000000	0.690000	1	9.900000e-01	0.990000	0.975858	0.990000	1.000000																										2	Substitution - Missense(2)	p.R466L(2)	lung(2)	12						c.(1396-1398)cGa>cAa		WD repeat domain 27							79.0	80.0	79.0					6																	170058377		2100	4224	6324	SO:0001583	missense	253769	0	0					g.chr6:170058377C>T	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.1397G>A	chr6.hg19:g.170058377C>T	ENSP00000416289:p.Arg466Gln	0					WDR27_ENST00000333572.6_Missense_Mutation_p.R466Q|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q	p.R466Q	NM_182552.4	NP_872358.4	0	0	0	1.973144	A2RRH5	WDR27_HUMAN		13	1506	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	1	1	hg19	c.1397G>A	CCDS47520.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.183|2.183	-0.387218|-0.387218	0.04932|0.04932	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;T	.|0.23950	.|1.98;2.2;1.88	4.56|4.56	-7.59|-7.59	0.01308|0.01308	4.56|4.56	-7.59|-7.59	0.01308|0.01308	.|.	.|0.607232	.|0.14213	.|N	.|0.333916	T|T	0.01092|0.01092	0.0036|0.0036	N|N	0.01188|0.01188	-0.97|-0.97	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.12013	.|0.002;0.0;0.002;0.005	.|B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001	T|T	0.35351|0.35351	-0.9792|-0.9792	5|10	.|0.09084	.|T	.|0.74	-1.0366|-1.0366	2.1689|2.1689	0.03845|0.03845	0.1201:0.3153:0.1222:0.4424|0.1201:0.3153:0.1222:0.4424	.|.	.|466;436;339;466	.|F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.|.;WDR27_HUMAN;.;.	N|Q	100|466;466;339	.|ENSP00000416289:R466Q;ENSP00000330265:R466Q;ENSP00000397869:R339Q	.|ENSP00000330265:R466Q	D|R	-|-	1|2	0|0	0|0	WDR27|WDR27	169800302|169800302	169800302|169800302	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.349000|-1.349000	0.02627|0.02627	-1.609000|-1.609000	0.01585|0.01585	-0.244000|-0.244000	0.11960|0.11960	GAC|CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-12.967160	1	0.170000	NM_182552			6	6		33	32	1		1	1		0	0	14	0		9.665047e-01	8.559453e-01	0	4	0	18	0	6	33
C6orf120	387263	broad.mit.edu	37	6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	82					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662																																						ENST00000332290.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(244-246)Gcc>Acc		chromosome 6 open reading frame 120							54.0	48.0	50.0					6																	170102799		2202	4300	6502	SO:0001583	missense	387263	0	0					g.chr6:170102799G>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.244G>A	chr6.hg19:g.170102799G>A	ENSP00000346931:p.Ala82Thr	0					WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	p.A82T	NM_001029863.1	NP_001025034.1	0	0	0	1.973144	Q7Z4R8	CF120_HUMAN		1	543	+		Breast(66;0.000338)	B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	1	1	hg19	c.244G>A	CCDS34575.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886734	0.33348	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.210963	0.38436	U	0.001699	T	0.06096	0.0158	N	0.11427	0.14	0.27201	N	0.960165	P;P	0.42039	0.769;0.473	B;B	0.24848	0.056;0.039	T	0.12734	-1.0536	9	0.59425	D	0.04	-24.4242	13.1613	0.59547	0.0:0.0:0.8403:0.1597	.	101;82	B4DJ79;Q7Z4R8	.;CF120_HUMAN	T	101;82	.	ENSP00000346931:A82T	A	+	1	0	0	C6orf120	169844724	169844724	1.000000	0.71417	0.841000	0.33234	0.015000	0.08874	7.443000	0.80521	2.591000	0.87537	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001029863			84	84		277	275	1		1	1		0	0	52	0		1	9.999896e-01	0	10	0	48	0	84	277
C6orf120	387263	broad.mit.edu	37	6	170103014	170103014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|C6orf120_ENST00000439249.1_Silent_p.G172G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	153					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607																																						ENST00000332290.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999791	0.990000	1.000000																										0				3						c.(457-459)ggC>ggT		chromosome 6 open reading frame 120							15.0	17.0	16.0					6																	170103014		2174	4270	6444	SO:0001819	synonymous_variant	387263	0	0					g.chr6:170103014C>T	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.459C>T	chr6.hg19:g.170103014C>T		0					WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Silent_p.G172G	p.G153G	NM_001029863.1	NP_001025034.1	0	0	0	1.973144	Q7Z4R8	CF120_HUMAN		1	758	+		Breast(66;0.000338)	B4DHE9|E1P5C9	Silent	SNP	ENST00000332290.2	1	1	hg19	c.459C>T	CCDS34575.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	1	0	1		2	2	2	0		0	0	29		29	27	1	2.060000	-20.000000	1	0.170000	NM_001029863			24	19		126	116	1		1	1		0	0	29	0		9.999994e-01	9.987287e-01	0	17	0	42	0	24	126
PHF10	55274	broad.mit.edu	37	6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	C6orf120_ENST00000332290.2_3'UTR|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000423258.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|WDR27_ENST00000333572.6_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	493					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)			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)		TTTGCTGTTTTTCCCCCTTCT	0.378																																						ENST00000339209.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1477-1479)aAa>aCa		PHD finger protein 10							80.0	78.0	79.0					6																	170104118		2203	4300	6503	SO:0001583	missense	55274	0	0					g.chr6:170104118T>G	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.1478A>C	chr6.hg19:g.170104118T>G	ENSP00000341805:p.Lys493Thr	0					PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000332290.2_3'UTR|WDR27_ENST00000448612.1_5'Flank	p.K493T	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	0	0	0	1.973144	Q8WUB8	PHF10_HUMAN		12	1601	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	1	1	hg19	c.1478A>C	CCDS5308.2	1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89746	-2.56;-2.56	5.98	4.82	0.62117	5.98	4.82	0.62117	.	0.084171	0.85682	D	0.000000	T	0.81777	0.4894	N	0.25485	0.75	0.41228	D	0.986557	D;P	0.56521	0.976;0.925	P;B	0.51615	0.675;0.346	D	0.84625	0.0686	10	0.72032	D	0.01	-27.1967	11.2224	0.48864	0.0:0.0711:0.0:0.9289	.	491;493	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	T	491;493	ENSP00000355743:K491T;ENSP00000341805:K493T	ENSP00000341805:K493T	K	-	2	0	0	PHF10	169846043	169846043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	1.093000	0.41377	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_018288			43	43		183	177	1		1	1		0	0	47	0		1	1	0	29	0	102	0	43	183
PHF10	55274	broad.mit.edu	37	6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	88					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)			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)		TGAAGCATATAGTATTCTCCT	0.303																																						ENST00000339209.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(262-264)Tat>Cat		PHD finger protein 10							78.0	84.0	82.0					6																	170118947		2203	4291	6494	SO:0001583	missense	55274	0	0					g.chr6:170118947A>G	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.262T>C	chr6.hg19:g.170118947A>G	ENSP00000341805:p.Tyr88His	0					PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H|PHF10_ENST00000464779.1_5'UTR	p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	0	0	0	1.973144	Q8WUB8	PHF10_HUMAN		3	385	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	1	1	hg19	c.262T>C	CCDS5308.2	1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646541	0.87958	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.49	5.49	0.81192	5.49	5.49	0.81192	.	.	.	.	.	T	0.45935	0.1367	M	0.69823	2.125	0.46376	D	0.999012	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.50882	-0.8775	9	0.87932	D	0	.	13.6157	0.62105	1.0:0.0:0.0:0.0	.	88;88	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	H	88	ENSP00000355743:Y88H;ENSP00000341805:Y88H	ENSP00000341805:Y88H	Y	-	1	0	0	PHF10	169860872	169860872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.594000	0.90836	2.199000	0.70637	0.455000	0.32223	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_018288			78	77		371	362	1		1	1		0	0	72	0		1	1	0	39	0	95	0	78	371
DLL1	28514	broad.mit.edu	37	6	170592486	170592486	+	Silent	SNP	G	G	A	rs201096307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	627					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)			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)		CATTCTTGTCGGCGCTGTGGT	0.607																																						ENST00000366756.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1879-1881)gcC>gcT		delta-like 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	229.0	191.0	204.0		1881	-7.9	0.0	6		204	0,8600		0,0,4300	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		627/724	170592486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28514	6	121388	42				g.chr6:170592486G>A	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.1881C>T	chr6.hg19:g.170592486G>A		0						p.A627A	NM_005618.3	NP_005609.3	0	0	0	1.973144	O00548	DLL1_HUMAN		9	2214	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	1	1	hg19	c.1881C>T	CCDS5313.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-2.889237	1	0.170000				118	118		578	571	1		1	0		0	0	112	0		1	9.885934e-01	0	0	0	36	0	118	578
DLL1	28514	broad.mit.edu	37	6	170592876	170592876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	497	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)		GGCCCCTCTCGTGGCAGGTGG	0.701																																						ENST00000366756.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998883	0.990000	1.000000																										0				33						c.(1489-1491)caC>caT		delta-like 1 (Drosophila)							13.0	14.0	14.0					6																	170592876		2187	4279	6466	SO:0001819	synonymous_variant	28514	3	120360	28				g.chr6:170592876G>A	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.1491C>T	chr6.hg19:g.170592876G>A		0						p.H497H	NM_005618.3	NP_005609.3	0	0	0	1.973144	O00548	DLL1_HUMAN		9	1824	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	1	1	hg19	c.1491C>T	CCDS5313.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	1	0	1		2	2	2	0		0	0	14		14	12	1	2.060000	-19.999980	1	0.170000				13	12		55	53	1		1	0		0	0	14	0		9.996117e-01	7.414832e-01	0	0	0	13	0	13	55
FAM120B	84498	broad.mit.edu	37	6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	149					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				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)		AAAGACACTGGGCCAGGAAAC	0.458																																						ENST00000476287.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(445-447)Ggc>Tgc		family with sequence similarity 120B							81.0	78.0	79.0					6																	170626923		2203	4300	6503	SO:0001583	missense	84498	0	0					g.chr6:170626923G>T	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.445G>T	chr6.hg19:g.170626923G>T	ENSP00000417970:p.Gly149Cys	0					FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000252510.9_Intron	p.G149C	NM_032448.1	NP_115824.1	0	0	0	1.973144	Q96EK7	F120B_HUMAN		2	553	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	1	1	hg19	c.445G>T	CCDS5314.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160760	0.57368	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56444	0.46;0.46;0.46	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70718	-0.4795	10	0.87932	D	0	-23.9753	20.6593	0.99626	0.0:0.0:1.0:0.0	.	149;149	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	161;172;149	ENSP00000444125:G161C;ENSP00000440125:G172C;ENSP00000417970:G149C	ENSP00000436640:G149C	G	+	1	0	0	FAM120B	170468848	170468848	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	9.175000	0.94831	2.885000	0.99019	0.655000	0.94253	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.802146	1	0.170000	NM_032448			94	91		351	344	1		1	1		0	0	95	0		1	9.999870e-01	0	21	0	42	0	94	351
FAM120B	84498	broad.mit.edu	37	6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	513					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				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)		CATATGTACAGATCCTATATC	0.388																																						ENST00000476287.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1537-1539)Gat>Aat		family with sequence similarity 120B							81.0	83.0	82.0					6																	170628015		2203	4300	6503	SO:0001583	missense	84498	1	121412	31				g.chr6:170628015G>A	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.1537G>A	chr6.hg19:g.170628015G>A	ENSP00000417970:p.Asp513Asn	0					FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000252510.9_Intron	p.D513N	NM_032448.1	NP_115824.1	0	0	0	1.973144	Q96EK7	F120B_HUMAN		2	1645	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	1	1	hg19	c.1537G>A	CCDS5314.1	1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571134	0.28003	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08282	3.12;3.11;3.13	2.48	2.48	0.30137	2.48	2.48	0.30137	.	2.356560	0.01316	N	0.010789	T	0.12263	0.0298	L	0.56769	1.78	0.19575	N	0.999965	D;D	0.76494	0.999;0.978	D;P	0.68943	0.961;0.556	T	0.36792	-0.9733	10	0.21540	T	0.41	.	11.0653	0.47972	0.0:0.0:1.0:0.0	.	513;513	Q96EK7;F2Z2E1	F120B_HUMAN;.	N	525;536;513	ENSP00000444125:D525N;ENSP00000440125:D536N;ENSP00000417970:D513N	ENSP00000436640:D513N	D	+	1	0	0	FAM120B	170469940	170469940	0.014000	0.17966	0.011000	0.14972	0.029000	0.11900	0.501000	0.22578	1.683000	0.51011	0.561000	0.74099	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_032448			75	75		401	394	1		1	1		0	0	95	0		1	9.999982e-01	0	22	0	81	0	75	401
DUSP22	56940	broad.mit.edu	37	6	345913	345913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000344450.5	+	5	691	c.248G>A	c.(247-249)aGc>aAc	p.S83N	DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000604971.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	83	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCGGTGAGAGCTGCCTTGTA	0.433																																						ENST00000344450.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999714	0.990000	1.000000																										0				26						c.(247-249)aGc>aAc		dual specificity phosphatase 22							159.0	131.0	141.0					6																	345913		2203	4300	6503	SO:0001583	missense	56940	0	0					g.chr6:345913G>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.248G>A	chr6.hg19:g.345913G>A	ENSP00000345281:p.Ser83Asn	0					DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000604971.1_De_novo_Start_OutOfFrame	p.S83N	NM_020185.3	NP_064570.1	0	0	0	1.967613	Q9NRW4	DUS22_HUMAN		5	691	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	1	0	hg19	c.248G>A	CCDS4468.1	1	.	.	.	.	.	.	.	.	.	.	G	6.942	0.543537	0.13250	.	.	ENSG00000112679	ENST00000344450	T	0.60171	0.21	5.41	5.41	0.78517	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.219153	0.40469	N	0.001099	T	0.11836	0.0288	N	0.00605	-1.335	0.49213	D	0.999763	B;B;B	0.25850	0.0;0.025;0.136	B;B;B	0.23716	0.002;0.048;0.048	T	0.41805	-0.9488	10	0.05959	T	0.93	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	83;40;83	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	N	83	ENSP00000345281:S83N	ENSP00000345281:S83N	S	+	2	0	0	DUSP22	290913	290913	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.583000	0.74053	2.523000	0.85059	0.655000	0.94253	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.788910	1	0.170000	NM_020185			51	50		364	356	1		1	0		0	0	46	0		1	9.999986e-01	0	0	0	143	0	51	364
EXOC2	55770	broad.mit.edu	37	6	532557	532557	+	Silent	SNP	G	G	A	rs560648856		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	764					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.001					ENST00000230449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2290-2292)atC>atT		exocyst complex component 2							123.0	118.0	119.0					6																	532557		2203	4300	6503	SO:0001819	synonymous_variant	55770	1	121412	29				g.chr6:532557G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2292C>T	chr6.hg19:g.532557G>A		0					EXOC2_ENST00000448181.3_Silent_p.I359I	p.I764I	NM_018303.5	NP_060773.3	0	0	0	1.967613	Q96KP1	EXOC2_HUMAN		23	2427	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	1	1	hg19	c.2292C>T	CCDS34327.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.267572	1	0.170000	NM_018303			68	68		324	318	1		1	1		0	0	79	0		1	9.999983e-01	0	28	0	66	0	68	324
HUS1B	135458	broad.mit.edu	37	6	656306	656306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	213					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502																																						ENST00000380907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(637-639)tcG>tcA		HUS1 checkpoint homolog b (S. pombe)							119.0	130.0	126.0					6																	656306		2203	4300	6503	SO:0001819	synonymous_variant	135458	0	0					g.chr6:656306C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.639G>A	chr6.hg19:g.656306C>T		0					EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	p.S213S	NM_148959.3	NP_683762.2	0	0	0	1.967613	Q8NHY5	HUS1B_HUMAN		1	657	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Q5T4Z2	Silent	SNP	ENST00000380907.2	1	1	hg19	c.639G>A	CCDS4470.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	1	0	1		2	2	2	0		0	0	171		171	168	1	2.060000	-20.000000	1	0.170000	NM_148959			188	183		780	768	1		1			0	0	171	0		1	0	0	0	0	0	0	188	780
HUS1B	135458	broad.mit.edu	37	6	656841	656841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	35					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667																																						ENST00000380907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(103-105)cGc>cAc		HUS1 checkpoint homolog b (S. pombe)							28.0	26.0	26.0					6																	656841		2202	4296	6498	SO:0001583	missense	135458	1	121322	25				g.chr6:656841C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.104G>A	chr6.hg19:g.656841C>T	ENSP00000370293:p.Arg35His	0					EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	p.R35H	NM_148959.3	NP_683762.2	0	0	0	1.967613	Q8NHY5	HUS1B_HUMAN		1	122	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	1	1	hg19	c.104G>A	CCDS4470.1	1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697071	0.30142	.	.	ENSG00000188996	ENST00000380907	T	0.11277	2.79	2.77	1.85	0.25348	2.77	1.85	0.25348	.	0.428272	0.20386	U	0.093349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.39590	0.304	T	0.42292	-0.9460	10	0.44086	T	0.13	.	7.4847	0.27425	0.0:0.7314:0.2686:0.0	.	35	Q8NHY5	HUS1B_HUMAN	H	35	ENSP00000370293:R35H	ENSP00000370293:R35H	R	-	2	0	0	HUS1B	601841	601841	0.053000	0.20554	0.001000	0.08648	0.012000	0.07955	0.084000	0.14891	0.709000	0.31976	0.491000	0.48974	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-20.000000	1	0.170000	NM_148959			42	42		155	155	1		1	0		0	0	17	0		1	0	0	0	0	1	0	42	155
MYLK4	340156	broad.mit.edu	37	6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572																																						ENST00000274643.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(481-483)Gcg>Acg		myosin light chain kinase family, member 4							260.0	195.0	217.0					6																	2685594		2203	4300	6503	SO:0001583	missense	340156	2	121412	37				g.chr6:2685594C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.481G>A	chr6.hg19:g.2685594C>T	ENSP00000274643:p.Ala161Thr	0					MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	p.A161T	NM_001012418.3	NP_001012418.2	0	0	0	1.967613	Q86YV6	MYLK4_HUMAN		6	823	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	1	1	hg19	c.481G>A	CCDS34330.1	1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724036	0.68959	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39229	1.09;1.09	5.63	5.63	0.86233	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);	0.170767	0.27451	N	0.019319	T	0.18551	0.0445	N	0.25426	0.745	0.32308	N	0.564091	P	0.40302	0.712	B	0.32465	0.146	T	0.11324	-1.0592	10	0.48119	T	0.1	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	161	Q86YV6	MYLK4_HUMAN	T	161	ENSP00000268446:A161T;ENSP00000274643:A161T	ENSP00000268446:A161T	A	-	1	0	0	MYLK4	2630593	2630593	1.000000	0.71417	0.953000	0.39169	0.715000	0.41141	4.968000	0.63728	2.649000	0.89929	0.603000	0.83216	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	1	0	1		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000	NM_001012418			150	149		735	722	1		1	0		0	0	161	0		1	2.913962e-02	0	0	0	2	0	150	735
WRNIP1	56897	broad.mit.edu	37	6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380773.4	+	3	1425	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P186T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547																																						ENST00000380773.4	1.000000	0.620000	1	7.600000e-01	0.930000	0.901446	0.930000	1.000000																										0				14						c.(1216-1218)Ccc>Acc		Werner helicase interacting protein 1							77.0	72.0	74.0					6																	2770555		2203	4300	6503	SO:0001583	missense	56897	0	0					g.chr6:2770555C>A	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1216C>A	chr6.hg19:g.2770555C>A	ENSP00000370150:p.Pro406Thr	0					WRNIP1_ENST00000380769.4_Missense_Mutation_p.P186T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T	p.P406T	NM_020135.2	NP_064520.2	0	0	0	1.967613				3	1425	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)		Missense_Mutation	SNP	ENST00000380773.4	1	1	hg19	c.1216C>A	CCDS4475.1	1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501245	0.44455	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.43688	0.94;1.0;1.01	5.79	4.93	0.64822	5.79	4.93	0.64822	.	0.437998	0.24657	N	0.036668	T	0.12433	0.0302	N	0.25647	0.755	0.30469	N	0.773538	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.006	T	0.13818	-1.0495	10	0.14252	T	0.57	-17.2905	12.2648	0.54672	0.0:0.9222:0.0:0.0778	.	381;406	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	406;381;186;22	ENSP00000370150:P406T;ENSP00000370148:P381T;ENSP00000370146:P186T	ENSP00000370141:P22T	P	+	1	0	0	WRNIP1	2715554	2715554	0.733000	0.28132	0.934000	0.37439	0.998000	0.95712	2.859000	0.48364	1.447000	0.47661	0.650000	0.86243	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_130395			25	25		284	277	1		1	1		0	0	68	0		9.999998e-01	9.999877e-01	0	35	0	172	0	25	284
WRNIP1	56897	broad.mit.edu	37	6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380773.4	+	6	1864	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P332L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507																																						ENST00000380773.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1654-1656)cCg>cTg		Werner helicase interacting protein 1							113.0	88.0	97.0					6																	2784570		2203	4300	6503	SO:0001583	missense	56897	1	121412	22				g.chr6:2784570C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1655C>T	chr6.hg19:g.2784570C>T	ENSP00000370150:p.Pro552Leu	0					WRNIP1_ENST00000380769.4_Missense_Mutation_p.P332L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L	p.P552L	NM_020135.2	NP_064520.2	0	0	0	1.967613				6	1864	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)		Missense_Mutation	SNP	ENST00000380773.4	1	1	hg19	c.1655C>T	CCDS4475.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917728	0.92249	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.54071	0.6;0.59;0.67	5.57	5.57	0.84162	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.66497	0.944;0.472	D	0.84723	0.0741	10	0.87932	D	0	-0.8257	18.5466	0.91048	0.0:1.0:0.0:0.0	.	527;552	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	552;527;332;168	ENSP00000370150:P552L;ENSP00000370148:P527L;ENSP00000370146:P332L	ENSP00000370141:P168L	P	+	2	0	0	WRNIP1	2729569	2729569	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.344000	0.79328	2.610000	0.88304	0.563000	0.77884	CCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.818896	1	0.170000	NM_130395			33	32		105	101	1		1	1		0	0	35	0		1	1	0	69	0	164	0	33	105
SERPINB9	5272	broad.mit.edu	37	6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	89					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|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)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443																																						ENST00000380698.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(265-267)gCc>gTc		serpin peptidase inhibitor, clade B (ovalbumin), member 9							100.0	98.0	99.0					6																	2896327		2203	4300	6503	SO:0001583	missense	5272	0	0					g.chr6:2896327G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.266C>T	chr6.hg19:g.2896327G>A	ENSP00000370074:p.Ala89Val	0						p.A89V	NM_004155.5	NP_004146.1	0	0	0	1.967613	P50453	SPB9_HUMAN		3	355	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	1	1	hg19	c.266C>T	CCDS4478.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204303	0.79127	.	.	ENSG00000170542	ENST00000380698	D	0.87029	-2.2	4.21	4.21	0.49690	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.81614	2.55	0.80722	D	1	D	0.63046	0.992	P	0.52454	0.699	D	0.90084	0.4172	10	0.54805	T	0.06	.	15.6929	0.77469	0.0:0.0:1.0:0.0	.	89	P50453	SPB9_HUMAN	V	89	ENSP00000370074:A89V	ENSP00000370074:A89V	A	-	2	0	0	SERPINB9	2841326	2841326	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	8.832000	0.92079	2.342000	0.79632	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				66	65		300	296	1		1	1		0	0	64	0		1	9.999999e-01	0	28	0	84	0	66	300
NQO2	4835	broad.mit.edu	37	6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	55					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CACAGACAAAGATATCACTGG	0.413																																						ENST00000338130.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				7						c.(163-165)Gat>Tat		NAD(P)H dehydrogenase, quinone 2	Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)						68.0	62.0	64.0					6																	3010414		2203	4300	6503	SO:0001583	missense	4835	0	0					g.chr6:3010414G>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.163G>T	chr6.hg19:g.3010414G>T	ENSP00000337773:p.Asp55Tyr	0					NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y	p.D55Y			0	0	0	1.967613	P16083	NQO2_HUMAN		6	875	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	1	1	hg19	c.163G>T	CCDS4481.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851555	0.51270	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61103	-0.7130	10	0.87932	D	0	-29.6135	16.8378	0.85961	0.0:0.0:1.0:0.0	rs55771117	55;102	P16083;Q59EN2	NQO2_HUMAN;.	Y	55;55;102;55;55;55;55;55;55	ENSP00000406951:D55Y;ENSP00000369839:D55Y;ENSP00000380829:D55Y;ENSP00000337773:D55Y;ENSP00000369806:D55Y;ENSP00000369822:D55Y;ENSP00000369821:D55Y;ENSP00000369795:D55Y	ENSP00000337773:D55Y	D	+	1	0	0	NQO2	2955413	2955413	1.000000	0.71417	0.414000	0.26521	0.078000	0.17371	8.075000	0.89502	2.650000	0.89964	0.563000	0.77884	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				30	30		127	124	1		1	1		0	0	35	0		1	1	0	26	0	160	0	30	127
NQO2	4835	broad.mit.edu	37	6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	144					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TAAACTAGCGCTCCTTTCCGT	0.547																																						ENST00000338130.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998852	0.990000	1.000000																										0				7						c.(430-432)Ctc>Ttc		NAD(P)H dehydrogenase, quinone 2	Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)						132.0	99.0	110.0					6																	3017130		2203	4300	6503	SO:0001583	missense	4835	0	0					g.chr6:3017130C>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.430C>T	chr6.hg19:g.3017130C>T	ENSP00000337773:p.Leu144Phe	0					NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380455.4_Missense_Mutation_p.L144F	p.L144F			0	0	0	1.967613	P16083	NQO2_HUMAN		9	1142	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	1	1	hg19	c.430C>T	CCDS4481.1	1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009775	0.35415	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.12361	2.69;2.96;2.69;2.96;2.69	5.4	4.52	0.55395	5.4	4.52	0.55395	Flavodoxin-like fold (1);	0.108382	0.64402	D	0.000013	T	0.16896	0.0406	M	0.69463	2.115	0.39564	D	0.969173	D	0.56287	0.975	P	0.61132	0.884	T	0.02075	-1.1218	10	0.59425	D	0.04	-27.4601	6.6329	0.22867	0.337:0.5798:0.0:0.0831	.	144	P16083	NQO2_HUMAN	F	144;106;144;106;144	ENSP00000337773:L144F;ENSP00000369806:L106F;ENSP00000369822:L144F;ENSP00000369821:L106F;ENSP00000369795:L144F	ENSP00000337773:L144F	L	+	1	0	0	NQO2	2962129	2962129	0.541000	0.26417	0.022000	0.16811	0.025000	0.11179	0.754000	0.26390	1.246000	0.43901	0.563000	0.77884	CTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				25	24		159	155	1		1	1		0	0	36	0		9.999999e-01	9.999990e-01	0	64	0	88	0	25	159
BPHL	670	broad.mit.edu	37	6	3129401	3129401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000380379.5	+	4	550	c.501C>T	c.(499-501)taC>taT	p.Y167Y	BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380368.2_Silent_p.Y150Y	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	167					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537																																						ENST00000380379.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				13						c.(499-501)taC>taT		biphenyl hydrolase-like (serine hydrolase)							115.0	89.0	98.0					6																	3129401		2203	4300	6503	SO:0001819	synonymous_variant	670	17	121410	41				g.chr6:3129401C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.501C>T	chr6.hg19:g.3129401C>T		0					BPHL_ENST00000380368.2_Silent_p.Y150Y|BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y	p.Y167Y	NM_004332.2	NP_004323.2	0	0	0	1.967613	Q86WA6	BPHL_HUMAN		4	550	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	1	1	hg19	c.501C>T	CCDS4483.2	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				39	39		199	197	0		1	1		0	0	50	0		1	9.968398e-01	0	15	0	33	0	39	199
TUBB2B	347733	broad.mit.edu	37	6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	9					'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)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726																																						ENST00000259818.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(25-27)gCg>gTg		tubulin, beta 2B class IIb							44.0	44.0	44.0					6																	3227752		2201	4299	6500	SO:0001583	missense	347733	0	0					g.chr6:3227752G>A	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.26C>T	chr6.hg19:g.3227752G>A	ENSP00000259818:p.Ala9Val	0					TUBB2B_ENST00000473006.1_Intron	p.A9V	NM_178012.4	NP_821080.1	0	0	0	1.967613	Q9BVA1	TBB2B_HUMAN		1	217	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	A8K068	Missense_Mutation	SNP	ENST00000259818.7	1	1	hg19	c.26C>T	CCDS4485.1	1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806186	0.70682	.	.	ENSG00000137285	ENST00000259818	T	0.61158	0.13	4.34	4.34	0.51931	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000023	T	0.22704	0.0548	N	0.02973	-0.45	0.80722	D	1	B;B	0.23806	0.091;0.057	B;B	0.21151	0.033;0.018	T	0.25117	-1.0141	10	0.87932	D	0	.	17.4008	0.87459	0.0:0.0:1.0:0.0	.	9;9	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	V	9	ENSP00000259818:A9V	ENSP00000259818:A9V	A	-	2	0	0	TUBB2B	3172751	3172751	1.000000	0.71417	0.953000	0.39169	0.884000	0.51177	3.777000	0.55364	2.403000	0.81681	0.561000	0.74099	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_178012			46	45		217	214	0		1	0		0	0	43	0		1	2.896534e-01	0	0	0	6	0	46	217
FAM50B	26240	broad.mit.edu	37	6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	92						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682																																						ENST00000380274.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999438	0.990000	1.000000																										0				17						c.(274-276)caG>caT		family with sequence similarity 50, member B							12.0	17.0	15.0					6																	3850321		2197	4287	6484	SO:0001583	missense	26240	0	0					g.chr6:3850321G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.276G>T	chr6.hg19:g.3850321G>T	ENSP00000369627:p.Gln92His	0					FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H	p.Q92H			0	0	0	1.967613	Q9Y247	FA50B_HUMAN		1	702	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	1	1	hg19	c.276G>T	CCDS4487.1	1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232500	0.22626	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.4	0.595	0.17490	4.4	0.595	0.17490	.	0.124634	0.52532	D	0.000069	T	0.25901	0.0631	N	0.24115	0.695	0.32716	N	0.510942	P	0.38370	0.628	P	0.50314	0.637	T	0.13629	-1.0502	9	0.52906	T	0.07	-9.468	8.009	0.30342	0.3786:0.0:0.6214:0.0	.	92	Q9Y247	FA50B_HUMAN	H	92	.	ENSP00000369625:Q92H	Q	+	3	2	2	FAM50B	3795320	3795320	1.000000	0.71417	0.805000	0.32314	0.035000	0.12851	2.188000	0.42612	0.230000	0.21059	0.485000	0.47835	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_012135			18	17		87	85	0		1	0		0	0	20	0		9.999871e-01	8.541198e-01	0	0	0	19	0	18	87
PRPF4B	8899	broad.mit.edu	37	6	4060752	4060752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000538861.1_Silent_p.L962L|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	976	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)			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)				AGTACACCAGCTAAAGGACTT	0.448																																						ENST00000337659.6	1.000000	0.700000	1	8.800000e-01	0.990000	0.959879	0.990000	1.000000																										0				22						c.(2926-2928)Cta>Tta		pre-mRNA processing factor 4B							64.0	58.0	60.0					6																	4060752		2203	4300	6503	SO:0001819	synonymous_variant	8899	0	0					g.chr6:4060752C>T	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.2926C>T	chr6.hg19:g.4060752C>T		0					PRPF4B_ENST00000538861.1_Silent_p.L962L|PRPF4B_ENST00000494674.1_3'UTR	p.L976L	NM_003913.4	NP_003904.3	0	0	0	1.967613	Q13523	PRP4B_HUMAN		15	3026	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	1	1	hg19	c.2926C>T	CCDS4488.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2	1	0	1		2	2	2	0		0	0	56		56	61	1	2.060000	-8.885519	1	0.170000				19	17		178	169	1		1	1		0	0	56	0		9.999879e-01	9.999548e-01	0	11	0	150	0	19	178
ECI2	10455	broad.mit.edu	37	6	4130619	4130619	+	Missense_Mutation	SNP	G	G	A	rs149056651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4130619G>A	ENST00000380118.3	-	4	524	c.488C>T	c.(487-489)gCc>gTc	p.A163V	C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	163	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGTGTTTATGGCATTTTTCTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20935	0.0		0.0	False		,,,				2504	0.001					ENST00000380118.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(487-489)gCc>gTc		enoyl-CoA delta isomerase 2							183.0	156.0	165.0					6																	4130619		2203	4300	6503	SO:0001583	missense	10455	3	121412	39				g.chr6:4130619G>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.488C>T	chr6.hg19:g.4130619G>A	ENSP00000369461:p.Ala163Val	0					ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron	p.A163V			0	0	0	1.967613	O75521	ECI2_HUMAN		4	524	-			Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	1	1	hg19	c.488C>T	CCDS43420.2	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937167	0.73557	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.45	5.95	5.95	0.96441	5.95	5.95	0.96441	Crotonase, core (1);	0.336949	0.34291	N	0.004084	D	0.82375	0.5023	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88447	0.3046	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	163	O75521	ECI2_HUMAN	V	163;133;133;133;210	ENSP00000369461:A163V;ENSP00000369468:A133V;ENSP00000354737:A133V;ENSP00000420309:A133V;ENSP00000417459:A210V	ENSP00000354737:A133V	A	-	2	0	0	ECI2	4075618	4075618	1.000000	0.71417	0.652000	0.29579	0.193000	0.23685	7.516000	0.81772	2.825000	0.97269	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.386927	1	0.170000	NM_006117			49	49		233	231	1		1	1		0	0	50	0		1	1	0	109	0	258	0	49	233
CDYL	9425	broad.mit.edu	37	6	4892303	4892303	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	181	Interaction with EZH2.				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)			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)		CTCCATCTCTCTCCAGCCGGA	0.537																																						ENST00000328908.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(541-543)ctC>ctA		chromodomain protein, Y-like							86.0	88.0	87.0					6																	4892303		2203	4300	6503	SO:0001819	synonymous_variant	9425	0	0					g.chr6:4892303C>A	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.543C>A	chr6.hg19:g.4892303C>A		0					CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.L127L	p.L181L			0	0	0	1.967613	Q9Y232	CDYL1_HUMAN		4	674	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	1	1	hg19	c.543C>A		1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.730420	1	0.170000	NM_004824			100	99		358	355	1		1	1		0	0	92	0		1	1	0	43	0	75	0	100	358
RPP40	10799	broad.mit.edu	37	6	5000852	5000852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000380051.2	-	3	326	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	94					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)			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)				TGTATGTTAGTGCATAGCAAG	0.299																																						ENST00000380051.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(280-282)gcA>gcG		ribonuclease P/MRP 40kDa subunit							75.0	83.0	80.0					6																	5000852		2203	4300	6503	SO:0001819	synonymous_variant	10799	0	0					g.chr6:5000852T>C	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.282A>G	chr6.hg19:g.5000852T>C		0					RPP40_ENST00000464646.1_Silent_p.A34A|RPP40_ENST00000319533.5_Intron	p.A94A	NM_006638.2	NP_006629.2	0	0	0	1.967613	O75818	RPP40_HUMAN		3	326	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	Q5VX97|Q8WVK8	Silent	SNP	ENST00000380051.2	1	1	hg19	c.282A>G	CCDS34333.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_006638			67	66		263	257	1		1	1		0	0	64	0		1	9.887157e-01	0	12	0	18	0	67	263
LYRM4	57128	broad.mit.edu	37	6	5109689	5109689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000330636.4	-	3	449	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000468929.1_Nonstop_Mutation_p.*41W|LYRM4_ENST00000606472.1_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	82					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562																																					NSCLC(130;1006 2426 17608 36797)	ENST00000330636.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(244-246)Atc>Gtc		LYR motif containing 4							144.0	133.0	137.0					6																	5109689		2203	4300	6503	SO:0001583	missense	57128	0	0					g.chr6:5109689T>C	AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"""LYR motif containing"""	21365	protein-coding gene	gene with protein product		613311	"""chromosome 6 open reading frame 149"""	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.244A>G	chr6.hg19:g.5109689T>C	ENSP00000418787:p.Ile82Val	0					LYRM4_ENST00000468929.1_Nonstop_Mutation_p.*41W|LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000606472.1_5'Flank	p.I82V	NM_020408.4	NP_065141.3	0	0	0	1.967613	Q9HD34	LYRM4_HUMAN		3	449	-	Ovarian(93;0.11)	all_hematologic(90;0.0901)	A8K543|Q5XKP1	Missense_Mutation	SNP	ENST00000330636.4	0	0	hg19	c.244A>G	CCDS4493.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.580|7.580	0.668632|0.668632	0.14776|0.14776	.|.	.|.	ENSG00000214113|ENSG00000214113	ENST00000330636|ENST00000468929	T|.	0.30448|.	1.53|.	5.42|5.42	-7.49|-7.49	0.01355|0.01355	5.42|5.42	-7.49|-7.49	0.01355|0.01355	.|.	0.389310|.	0.17005|.	U|.	0.190765|.	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.22787|0.22787	N|N	0.99874|0.99874	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.22243|.	-1.0222|.	9|.	0.02654|.	T|.	1|.	.|.	17.4863|17.4863	0.87689|0.87689	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	82|.	Q9HD34|.	LYRM4_HUMAN|.	V|W	82|41	ENSP00000418787:I82V|.	ENSP00000418787:I82V|.	I|X	-|-	1|3	0|0	0|0	LYRM4|LYRM4	5054688|5054688	5054688|5054688	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.949000|0.949000	0.60115|0.60115	-1.611000|-1.611000	0.02062|0.02062	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	ATC|TGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-20.000000	1	0.170000	NM_020408			95	92		533	521	1		1	1		0	0	106	0		1	1	0	34	0	101	0	95	533
NRN1	51299	broad.mit.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232). {ECO:0000305}.	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)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617																																						ENST00000244766.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(145-147)Atg>Gtg		neuritin 1							158.0	133.0	142.0					6																	6002641		2203	4300	6503	SO:0001583	missense	51299	1	121412	29				g.chr6:6002641T>C	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.145A>G	chr6.hg19:g.6002641T>C	ENSP00000244766:p.Met49Val	0					NRN1_ENST00000495850.1_5'UTR	p.M49V	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	0	0	0	1.967613	Q9NPD7	NRN1_HUMAN		2	362	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	1	1	hg19	c.145A>G	CCDS4495.1	1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	0	NRN1	5947640	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000				108	108		455	448	1		1	0		0	0	116	0		1	7.015829e-01	0	0	0	12	0	108	455
F13A1	2162	broad.mit.edu	37	6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488																																						ENST00000264870.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				62						c.(310-312)Tac>Cac		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						179.0	143.0	156.0					6																	6305593		2203	4300	6503	SO:0001583	missense	2162	0	0					g.chr6:6305593A>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.310T>C	chr6.hg19:g.6305593A>G	ENSP00000264870:p.Tyr104His	0						p.Y104H	NM_000129.3	NP_000120.2	0	0	0	1.967613	P00488	F13A_HUMAN		3	575	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	1	1	hg19	c.310T>C	CCDS4496.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224353	0.79576	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84800	-1.9;-1.9	5.57	5.57	0.84162	5.57	5.57	0.84162	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.061981	0.64402	D	0.000002	D	0.88706	0.6509	M	0.63428	1.95	0.43637	D	0.996032	D	0.76494	0.999	D	0.75020	0.985	D	0.89982	0.4101	10	0.62326	D	0.03	.	13.6975	0.62589	1.0:0.0:0.0:0.0	.	104	P00488	F13A_HUMAN	H	104;104;142	ENSP00000264870:Y104H;ENSP00000413334:Y104H	ENSP00000264870:Y104H	Y	-	1	0	0	F13A1	6250592	6250592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.254000	0.65457	2.117000	0.64856	0.528000	0.53228	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000129			47	47		231	226	1		1	0		0	0	61	0		1	9.999752e-01	0	0	0	81	0	47	231
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000349384.6	+	7	813	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					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)			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)				GAAACGTAGGCGATTGTCCTC	0.507																																						ENST00000349384.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(499-501)Cga>Tga		ras responsive element binding protein 1							138.0	130.0	133.0					6																	7211110		2203	4300	6503	SO:0001587	stop_gained	6239	0	0					g.chr6:7211110C>T	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.499C>T	chr6.hg19:g.7211110C>T	ENSP00000305560:p.Arg167*	0					RREB1_ENST00000379938.2_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	p.R167*	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		7	813	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	0	1	hg19	c.499C>T	CCDS34336.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427465	0.83667	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.29	4.41	0.53225	5.29	4.41	0.53225	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4759	12.2018	0.54331	0.3093:0.6907:0.0:0.0	.	.	.	.	X	167	.	ENSP00000335574:R167X	R	+	1	2	2	RREB1	7156109	7156109	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.004000	0.40854	1.228000	0.43614	0.585000	0.79938	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	171		171	171	1	2.060000	-20.000000	1	0.170000				108	104		512	493	1		1	1		0	0	171	0		1	9.985651e-01	0	9	0	39	0	108	512
RREB1	6239	broad.mit.edu	37	6	7229595	7229595	+	Silent	SNP	C	C	T	rs140980354		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000349384.6	+	10	1577	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379938.2_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	421					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)			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)				CTTCCCTAGGCGGTTCTCTCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18614	0.0		0.001	False		,,,				2504	0.0					ENST00000349384.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1261-1263)ggC>ggT		ras responsive element binding protein 1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	57.0	52.0	53.0		1263,1263,1263,1263	-1.4	0.1	6	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	421/1688,421/1743,421/1477,421/1688	7229595	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6239	19	121412	44				g.chr6:7229595C>T	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.1263C>T	chr6.hg19:g.7229595C>T		0					RREB1_ENST00000379938.2_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G	p.G421G	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		10	1577	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	1	1	hg19	c.1263C>T	CCDS34336.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.583319	1	0.170000				66	66		262	257	1		1	1		0	0	72	0		1	9.997202e-01	0	14	0	37	0	66	262
RREB1	6239	broad.mit.edu	37	6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000349384.6	+	10	1861	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379938.2_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	516	Pro-rich.				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)			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)				GTCACACCACGGACGGTGGTG	0.677																																						ENST00000349384.6	0.690000	0.420000	6.200000e-01	4.800000e-01	0.550000	0.558343	0.550000	0.550000																										0				58						c.(1546-1548)cGg>cTg		ras responsive element binding protein 1							74.0	89.0	84.0					6																	7229879		2203	4299	6502	SO:0001583	missense	6239	0	0					g.chr6:7229879G>T	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.1547G>T	chr6.hg19:g.7229879G>T	ENSP00000305560:p.Arg516Leu	0					RREB1_ENST00000379938.2_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L	p.R516L	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		10	1861	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	1	1	hg19	c.1547G>T	CCDS34336.1	0	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.58;2.53;2.58;2.55;2.78	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.28532	0.0706	M	0.69823	2.125	0.50171	D	0.999857	D;D;D	0.71674	0.992;0.998;0.997	P;P;P	0.62298	0.882;0.9;0.851	T	0.00998	-1.1486	10	0.52906	T	0.07	-31.7759	19.7629	0.96329	0.0:0.0:1.0:0.0	.	516;516;516	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	516	ENSP00000369265:R516L;ENSP00000369270:R516L;ENSP00000305560:R516L;ENSP00000335574:R516L;ENSP00000419511:R516L	ENSP00000335574:R516L	R	+	2	0	0	RREB1	7174878	7174878	1.000000	0.71417	0.101000	0.21167	0.862000	0.49288	9.302000	0.96175	2.666000	0.90696	0.561000	0.74099	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	253		253	248	1	2.060000	-2.841472	1	0.170000				65	64		1297	1274	0		1	1		0	0	253	0		1	3.937025e-01	0	2	0	26	0	65	1297
RREB1	6239	broad.mit.edu	37	6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000349384.6	+	10	2389	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379938.2_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	692					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)			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)				CACCTGCGCACGCACAGTGGG	0.637																																						ENST00000349384.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				58						c.(2074-2076)aCg>aTg		ras responsive element binding protein 1							64.0	58.0	60.0					6																	7230407		2203	4300	6503	SO:0001583	missense	6239	1	121410	27				g.chr6:7230407C>T	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.2075C>T	chr6.hg19:g.7230407C>T	ENSP00000305560:p.Thr692Met	0					RREB1_ENST00000379938.2_Missense_Mutation_p.T692M|RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	p.T692M	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		10	2389	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	1	1	hg19	c.2075C>T	CCDS34336.1	1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500948	0.64298	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.54	4.67	0.58626	5.54	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.25606	0.0623	L	0.39020	1.185	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;0.994	T	0.03597	-1.1021	10	0.54805	T	0.06	-40.0095	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	692;692;692	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	692	ENSP00000369265:T692M;ENSP00000369270:T692M;ENSP00000305560:T692M;ENSP00000335574:T692M;ENSP00000419511:T692M	ENSP00000335574:T692M	T	+	2	0	0	RREB1	7175406	7175406	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.656000	0.61483	1.570000	0.49709	0.655000	0.94253	ACG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000				46	45		271	268	1		1	1		0	0	62	0		1	9.861423e-01	0	11	0	31	0	46	271
RREB1	6239	broad.mit.edu	37	6	7232026	7232026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000349384.6	+	10	4008	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379938.2_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1232					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)			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)				AGACAAGCTGCTGAGGGCCAA	0.622																																						ENST00000349384.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				58						c.(3694-3696)Ctg>Ttg		ras responsive element binding protein 1							67.0	48.0	55.0					6																	7232026		2203	4300	6503	SO:0001819	synonymous_variant	6239	0	0					g.chr6:7232026C>T	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.3694C>T	chr6.hg19:g.7232026C>T		0					RREB1_ENST00000379938.2_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L	p.L1232L	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		10	4008	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	1	1	hg19	c.3694C>T	CCDS34336.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				38	38		163	156	1		1	1		0	0	42	0		1	9.999890e-01	0	27	0	52	0	38	163
RREB1	6239	broad.mit.edu	37	6	7247318	7247318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000349384.6	+	11	4784	c.4470C>T	c.(4468-4470)gaC>gaT	p.D1490D	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Silent_p.D1545D|RREB1_ENST00000379933.3_Silent_p.D1490D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1490					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)			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)				AGAAGAGCGACGATGACAAGA	0.637																																						ENST00000349384.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(4468-4470)gaC>gaT		ras responsive element binding protein 1							79.0	75.0	76.0					6																	7247318		2203	4299	6502	SO:0001819	synonymous_variant	6239	0	0					g.chr6:7247318C>T	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.4470C>T	chr6.hg19:g.7247318C>T		0					RREB1_ENST00000379938.2_Silent_p.D1545D|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Silent_p.D1490D	p.D1490D	NM_001003698.3	NP_001003698.1	0	0	0	1.967613	Q92766	RREB1_HUMAN		11	4784	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	1	1	hg19	c.4470C>T	CCDS34336.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000				50	50		186	183	1		1	1		0	0	37	0		1	9.998876e-01	0	14	0	40	0	50	186
RIOK1	83732	broad.mit.edu	37	6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	301	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)					ATCCAAGGCTCGGGAGTTGTA	0.408																																						ENST00000379834.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(901-903)Cgg>Tgg		RIO kinase 1							166.0	158.0	161.0					6																	7404697		2203	4300	6503	SO:0001583	missense	83732	0	0					g.chr6:7404697C>T	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.901C>T	chr6.hg19:g.7404697C>T	ENSP00000369162:p.Arg301Trp	0						p.R301W	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	0	0	0	1.967613	Q9BRS2	RIOK1_HUMAN		10	1408	+	Ovarian(93;0.0418)		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	1	1	hg19	c.901C>T	CCDS4500.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683615	0.88639	.	.	ENSG00000124784	ENST00000379834	T	0.07444	3.19	5.3	5.3	0.74995	5.3	5.3	0.74995	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.08638	-1.0712	10	0.66056	D	0.02	-13.397	13.3026	0.60334	0.158:0.842:0.0:0.0	.	301	Q9BRS2	RIOK1_HUMAN	W	301	ENSP00000369162:R301W	ENSP00000369162:R301W	R	+	1	2	2	RIOK1	7349696	7349696	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.878000	0.48515	2.627000	0.88993	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	1	0	1		2	2	2	0		0	0	181		181	180	1	2.060000	-3.025808	1	0.170000	NM_031480			129	126		631	620	1		1	1		0	0	181	0		1	9.999996e-01	0	26	0	75	0	129	631
DSP	1832	broad.mit.edu	37	6	7563014	7563014	+	Splice_Site	SNP	G	G	A	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						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)			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)		AGCCGACCTGGTACTTGTCTG	0.468																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.e5+1		desmoplakin							107.0	106.0	106.0					6																	7563014		2203	4300	6503	SO:0001630	splice_region_variant	1832	1	121412	30				g.chr6:7563014G>A	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.726+1G>A	chr6.hg19:g.7563014G>A		0					DSP_ENST00000418664.2_Splice_Site		NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		5	1067	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	1	1	hg19		CCDS4501.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644213	0.87859	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DSP	7508013	7508013	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.283000	0.95860	2.713000	0.92767	0.655000	0.94253	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_004415	Intron		71	69		313	306	1		1	1		0	0	71	0		1	9.994079e-01	0	49	0	2	0	71	313
DSP	1832	broad.mit.edu	37	6	7565651	7565651	+	Silent	SNP	G	G	A	rs368051840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)			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)		TTCAGGCCACGTCCAGGGAGA	0.507																																						ENST00000379802.3	1.000000	0.730000	1	8.700000e-01	0.990000	0.954666	0.990000	1.000000																										0				101						c.(835-837)acG>acA		desmoplakin							146.0	115.0	126.0					6																	7565651		2203	4300	6503	SO:0001819	synonymous_variant	1832	2	121412	33				g.chr6:7565651G>A	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.837G>A	chr6.hg19:g.7565651G>A		0					DSP_ENST00000418664.2_Silent_p.T279T	p.T279T	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		7	1178	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	1	1	hg19	c.837G>A	CCDS4501.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_004415			35	34		357	350	1		1	1		0	0	74	0		1	9.999981e-01	0	35	0	172	0	35	357
DSP	1832	broad.mit.edu	37	6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	971	Globular 1.				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)			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)		TACACCTCAGGACTGGAAACT	0.418																																						ENST00000379802.3	1.000000	0.670000	1	7.800000e-01	0.900000	0.897360	0.900000	1.000000																										0				101						c.(2911-2913)gGa>gTa		desmoplakin							138.0	130.0	133.0					6																	7578046		2203	4300	6503	SO:0001583	missense	1832	0	0					g.chr6:7578046G>T	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.2912G>T	chr6.hg19:g.7578046G>T	ENSP00000369129:p.Gly971Val	0					DSP_ENST00000418664.2_Missense_Mutation_p.G971V	p.G971V	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		21	3253	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	1	1	hg19	c.2912G>T	CCDS4501.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008277	0.75046	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78595	-1.19;2.07	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	T	0.82038	0.4950	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76318	-0.3003	10	0.14656	T	0.56	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1018;971	Q4LE79;P15924	.;DESP_HUMAN	V	971;971;776	ENSP00000369129:G971V;ENSP00000396591:G971V	ENSP00000369129:G971V	G	+	2	0	0	DSP	7523045	7523045	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	0		2	2	2	0		0	0	139		139	139	1	2.060000	-11.048880	1	0.170000	NM_004415			44	42		515	502	1		1	1		0	0	139	0		1	9.999994e-01	0	43	0	204	0	44	515
DSP	1832	broad.mit.edu	37	6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1072	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)			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)		GTGTTCCCAGTTCAAAGCGAA	0.498																																						ENST00000379802.3	0.940000	0.410000	8.000000e-01	5.200000e-01	0.650000	0.667186	0.650000	0.640000																										0				101						c.(3214-3216)Ttc>Ctc		desmoplakin							69.0	74.0	72.0					6																	7579637		2203	4300	6503	SO:0001583	missense	1832	0	0					g.chr6:7579637T>C	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.3214T>C	chr6.hg19:g.7579637T>C	ENSP00000369129:p.Phe1072Leu	0					DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	p.F1072L	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		23	3555	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	1	1	hg19	c.3214T>C	CCDS4501.1	0	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854328	0.32791	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71222	-0.55;-0.55	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.088267	0.49916	D	0.000125	T	0.18215	0.0437	N	0.02539	-0.55	0.33600	D	0.602217	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09552	-1.0669	10	0.02654	T	1	.	8.5066	0.33190	0.0:0.1149:0.0:0.8851	.	1119;1072	Q4LE79;P15924	.;DESP_HUMAN	L	1072;1072;877	ENSP00000369129:F1072L;ENSP00000396591:F1072L	ENSP00000369129:F1072L	F	+	1	0	0	DSP	7524636	7524636	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.058000	0.57463	2.159000	0.67721	0.454000	0.30748	TTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-19.999600	1	0.170000	NM_004415			21	21		353	344	1		1	1		0	0	89	0		9.999971e-01	9.999785e-01	0	36	0	263	0	21	353
DSP	1832	broad.mit.edu	37	6	7580632	7580632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1403	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)			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)		GAGAAAACAGGAGCTTATCTG	0.493																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(4207-4209)agG>agA		desmoplakin							63.0	66.0	65.0					6																	7580632		2203	4300	6503	SO:0001819	synonymous_variant	1832	0	0					g.chr6:7580632G>A	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.4209G>A	chr6.hg19:g.7580632G>A		0					DSP_ENST00000418664.2_Intron	p.R1403R	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		23	4550	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	1	1	hg19	c.4209G>A	CCDS4501.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_004415			74	73		292	286	1		1	1		0	0	114	0		1	1	0	82	0	126	0	74	292
DSP	1832	broad.mit.edu	37	6	7582959	7582959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1822	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)			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)		AATCAAAGTCCTGGAGCAAGA	0.478																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(5464-5466)Ctg>Ttg		desmoplakin							118.0	125.0	123.0					6																	7582959		2203	4300	6503	SO:0001819	synonymous_variant	1832	0	0					g.chr6:7582959C>T	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.5464C>T	chr6.hg19:g.7582959C>T		0					DSP_ENST00000418664.2_Silent_p.L1223L	p.L1822L	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		24	5805	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	1	1	hg19	c.5464C>T	CCDS4501.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	0		2	2	2	0		0	0	161		161	159	1	2.060000	-3.114710	1	0.170000	NM_004415			113	108		522	512	1		1	1		0	0	161	0		1	1	0	137	0	313	0	113	522
DSP	1832	broad.mit.edu	37	6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1844	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)			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)		ATCAACTCTAGAGGCAGAAAC	0.498																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(5530-5532)Gag>Aag		desmoplakin							108.0	111.0	110.0					6																	7583025		2203	4300	6503	SO:0001583	missense	1832	0	0					g.chr6:7583025G>A	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.5530G>A	chr6.hg19:g.7583025G>A	ENSP00000369129:p.Glu1844Lys	0					DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	p.E1844K	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		24	5871	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	1	1	hg19	c.5530G>A	CCDS4501.1	1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765989	0.69878	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.103621	0.41823	D	0.000808	T	0.58538	0.2129	N	0.16903	0.455	0.31119	N	0.709018	D;B	0.76494	0.999;0.247	P;B	0.60541	0.876;0.091	T	0.60772	-0.7197	10	0.41790	T	0.15	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	1292;1844	Q4LE79;P15924	.;DESP_HUMAN	K	1844;1245	ENSP00000369129:E1844K;ENSP00000396591:E1245K	ENSP00000369129:E1844K	E	+	1	0	0	DSP	7528024	7528024	1.000000	0.71417	0.145000	0.22337	0.902000	0.53008	9.860000	0.99555	2.410000	0.81850	0.650000	0.86243	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	0		2	2	2	0		0	0	144		144	142	1	2.060000	-3.337890	1	0.170000	NM_004415			104	101		501	486	1		1	1		0	0	144	0		1	1	0	179	0	323	0	104	501
DSP	1832	broad.mit.edu	37	6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2435	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			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)		GATGCATTAAGGATGAGGAAA	0.413																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(7303-7305)aaG>aaT		desmoplakin							96.0	102.0	100.0					6																	7584800		2203	4300	6503	SO:0001583	missense	1832	0	0					g.chr6:7584800G>T	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.7305G>T	chr6.hg19:g.7584800G>T	ENSP00000369129:p.Lys2435Asn	0					DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	p.K2435N	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		24	7646	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	1	1	hg19	c.7305G>T	CCDS4501.1	1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231396	0.22626	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68331	-0.32;-0.32	5.7	2.95	0.34219	5.7	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.38957	0.1060	L	0.43152	1.355	0.23492	N	0.997568	D;P	0.60160	0.987;0.922	P;B	0.45712	0.491;0.33	T	0.33727	-0.9857	10	0.19590	T	0.45	.	9.8562	0.41088	0.3409:0.0:0.6591:0.0	.	1883;2435	Q4LE79;P15924	.;DESP_HUMAN	N	2435;1836	ENSP00000369129:K2435N;ENSP00000396591:K1836N	ENSP00000369129:K2435N	K	+	3	2	2	DSP	7529799	7529799	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	0.281000	0.18810	0.337000	0.23665	0.655000	0.94253	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-3.296056	1	0.170000	NM_004415			105	104		434	427	1		1	1		0	0	93	0		1	1	0	162	0	227	0	105	434
DSP	1832	broad.mit.edu	37	6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2710	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			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)		ATGTCAGCAGCAGAGGCAGTG	0.552																																						ENST00000379802.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				101						c.(8128-8130)gCa>gTa		desmoplakin							134.0	136.0	135.0					6																	7585624		2203	4300	6503	SO:0001583	missense	1832	0	0					g.chr6:7585624C>T	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.8129C>T	chr6.hg19:g.7585624C>T	ENSP00000369129:p.Ala2710Val	0					DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	p.A2710V	NM_004415.2	NP_004406.2	0	0	0	1.967613	P15924	DESP_HUMAN		24	8470	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	1	1	hg19	c.8129C>T	CCDS4501.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.73513	0.3596	M	0.62723	1.935	0.34917	D	0.748094	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.871	T	0.66893	-0.5808	10	0.16896	T	0.51	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2158;2710	Q4LE79;P15924	.;DESP_HUMAN	V	2710;2111	ENSP00000369129:A2710V;ENSP00000396591:A2111V	ENSP00000369129:A2710V	A	+	2	0	0	DSP	7530623	7530623	1.000000	0.71417	0.908000	0.35775	0.422000	0.31414	6.055000	0.71103	2.818000	0.97014	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1		2	2	2	0		0	0	232		232	229	1	2.060000	-20.000000	1	0.170000	NM_004415			141	139		757	734	1		1	1		0	0	232	0		1	1	0	272	0	436	0	141	757
SNRNP48	154007	broad.mit.edu	37	6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	274					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413																																						ENST00000342415.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(820-822)Cga>Tga		small nuclear ribonucleoprotein 48kDa (U11/U12)							117.0	113.0	114.0					6																	7606277		2203	4300	6503	SO:0001587	stop_gained	154007	1	121410	28				g.chr6:7606277C>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.820C>T	chr6.hg19:g.7606277C>T	ENSP00000339834:p.Arg274*	0						p.R274*	NM_152551.3	NP_689764.3	0	0	0	1.967613	Q6IEG0	SNR48_HUMAN		8	879	+			A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Nonsense_Mutation	SNP	ENST00000342415.5	0	1	hg19	c.820C>T	CCDS4502.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.389206	0.95988	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.75	2.96	0.34315	5.75	2.96	0.34315	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.92	4.1917	0.10424	0.286:0.4992:0.1385:0.0763	.	.	.	.	X	274	.	ENSP00000339834:R274X	R	+	1	2	2	SNRNP48	7551276	7551276	0.983000	0.35010	0.295000	0.24960	0.948000	0.59901	0.413000	0.21148	0.337000	0.23665	-0.152000	0.13540	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-20.000000	1	0.170000	NM_152551			67	67		388	383	1		1	1		0	0	88	0		1	9.878568e-01	0	3	0	39	0	67	388
CAP2	10486	broad.mit.edu	37	6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	46					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)				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)			GGCACCCTCCGTGGAAGCCTT	0.527																																						ENST00000229922.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(136-138)Gtg>Atg		CAP, adenylate cyclase-associated protein, 2 (yeast)							109.0	98.0	102.0					6																	17426835		2203	4300	6503	SO:0001583	missense	10486	3	121412	36				g.chr6:17426835G>A	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.136G>A	chr6.hg19:g.17426835G>A	ENSP00000229922:p.Val46Met	0					CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M	p.V46M	NM_006366.2	NP_006357.1	0	0	0	1.967613	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)	3	668	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	1	1	hg19	c.136G>A	CCDS4539.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093368	0.76756	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.37915	1.17;1.17;1.17;2.42;1.17	5.57	5.57	0.84162	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.249150	0.41396	D	0.000897	T	0.56746	0.2006	M	0.84773	2.715	0.29975	N	0.81823	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.996;0.941	D;D;D;P;B	0.87578	0.998;0.997;0.998;0.826;0.257	T	0.59257	-0.7488	10	0.62326	D	0.03	-18.492	16.447	0.83937	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	M	46	ENSP00000229922:V46M;ENSP00000417705:V46M;ENSP00000368275:V46M;ENSP00000417208:V46M;ENSP00000418604:V46M	ENSP00000229922:V46M	V	+	1	0	0	CAP2	17534814	17534814	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.323000	0.43823	2.626000	0.88956	0.591000	0.81541	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-3.180279	1	0.170000				70	68		337	319	1		1	1		0	0	88	0		1	9.679371e-01	0	4	0	25	0	70	337
NUP153	9972	broad.mit.edu	37	6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1191					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)			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)			GTTCAAGAAACTAAAAACTGG	0.413																																						ENST00000262077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3571-3573)aGt>aCt		nucleoporin 153kDa							43.0	45.0	45.0					6																	17626368		2203	4300	6503	SO:0001583	missense	9972	0	0					g.chr6:17626368C>G	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.3572G>C	chr6.hg19:g.17626368C>G	ENSP00000262077:p.Ser1191Thr	0					NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	p.S1191T	NM_005124.2	NP_005115.2	0	0	0	1.967613	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)	19	3571	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	1	1	hg19	c.3572G>C	CCDS4541.1	1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021807	0.35701	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.14516	2.55;2.5	5.39	-1.33	0.09172	5.39	-1.33	0.09172	.	0.331489	0.25753	N	0.028540	T	0.07007	0.0178	M	0.72894	2.215	0.39995	D	0.975091	P;B;P	0.42078	0.607;0.397;0.77	B;B;B	0.39590	0.304;0.146;0.219	T	0.17623	-1.0363	10	0.38643	T	0.18	-2.401	10.9874	0.47530	0.0:0.558:0.0:0.442	.	1222;1171;1191	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	1191;1171;1222	ENSP00000262077:S1191T;ENSP00000444029:S1222T	ENSP00000262077:S1191T	S	-	2	0	0	NUP153	17734347	17734347	0.979000	0.34478	0.957000	0.39632	0.861000	0.49209	0.010000	0.13242	-0.197000	0.10350	-0.244000	0.11960	AGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-3.488937	1	0.170000				42	41		173	167	1		1	1		0	0	57	0		1	9.999994e-01	0	28	0	67	0	42	173
NUP153	9972	broad.mit.edu	37	6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	435					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)			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)			AAACCATTGGCTGCAGGCAAA	0.398																																						ENST00000262077.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1303-1305)Gcc>Tcc		nucleoporin 153kDa							112.0	111.0	111.0					6																	17661976		2203	4300	6503	SO:0001583	missense	9972	0	0					g.chr6:17661976C>A	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.1303G>T	chr6.hg19:g.17661976C>A	ENSP00000262077:p.Ala435Ser	0					NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	p.A435S	NM_005124.2	NP_005115.2	0	0	0	1.967613	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)	11	1302	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	1	1	hg19	c.1303G>T	CCDS4541.1	1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867447	0.32977	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.62	4.74	0.60224	5.62	4.74	0.60224	Nucleoporin, Nup153-like (1);	0.149996	0.31113	N	0.008233	T	0.06690	0.0171	N	0.05414	-0.055	0.41898	D	0.990406	B;B;B	0.21688	0.047;0.059;0.046	B;B;B	0.29353	0.025;0.101;0.031	T	0.22556	-1.0213	10	0.16420	T	0.52	-0.5263	8.1593	0.31190	0.1977:0.7191:0.0:0.0832	.	435;457;435	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	435;457;435	ENSP00000262077:A435S;ENSP00000444029:A435S	ENSP00000262077:A435S	A	-	1	0	0	NUP153	17769955	17769955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.060000	0.41394	2.809000	0.96659	0.655000	0.94253	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000				118	113		519	509	1		1	1		0	0	137	0		1	9.999977e-01	0	28	0	54	0	118	519
NUP153	9972	broad.mit.edu	37	6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A	rs371263282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	92					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)			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)			TATTAGAGCTCTCCTCATCGG	0.413																																						ENST00000262077.2	1.000000	0.640000	1	7.600000e-01	0.900000	0.887270	0.900000	1.000000																										0				53						c.(274-276)gaG>gaT		nucleoporin 153kDa							121.0	113.0	115.0					6																	17688685		2203	4300	6503	SO:0001583	missense	9972	0	0					g.chr6:17688685C>A	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.276G>T	chr6.hg19:g.17688685C>A	ENSP00000262077:p.Glu92Asp	0					NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	p.E92D	NM_005124.2	NP_005115.2	0	0	0	1.967613	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)	2	275	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	1	1	hg19	c.276G>T	CCDS4541.1	1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098993	0.08681	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	2.85;2.89	5.25	0.691	0.18045	5.25	0.691	0.18045	.	0.000000	0.50627	D	0.000115	T	0.01695	0.0054	L	0.40543	1.245	0.25779	N	0.984748	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.46442	-0.9191	10	0.16420	T	0.52	-7.7884	0.6079	0.00756	0.2222:0.2519:0.3015:0.2244	.	92;114;92	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	92;114;92	ENSP00000262077:E92D;ENSP00000444029:E92D	ENSP00000262077:E92D	E	-	3	2	2	NUP153	17796664	17796664	0.957000	0.32711	0.554000	0.28268	0.009000	0.06853	0.230000	0.17852	0.188000	0.20168	-0.156000	0.13503	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-9.609350	1	0.170000				34	34		402	392	1		1	1		0	0	84	0		1	9.699137e-01	0	12	0	56	0	34	402
KIF13A	63971	broad.mit.edu	37	6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000259711.6	-	34	4265	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I	KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378814.5_Missense_Mutation_p.N1374I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1387					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)			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)			ATTATGAACATTTGGTGTACT	0.478																																						ENST00000259711.6	1.000000	0.430000	1	6.700000e-01	0.980000	0.873752	0.980000	1.000000																										0				64						c.(4159-4161)aAt>aTt		kinesin family member 13A							70.0	75.0	73.0					6																	17777518		1963	4157	6120	SO:0001583	missense	63971	0	0					g.chr6:17777518T>A	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.4160A>T	chr6.hg19:g.17777518T>A	ENSP00000259711:p.Asn1387Ile	0					KIF13A_ENST00000378814.5_Missense_Mutation_p.N1374I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I	p.N1387I	NM_022113.5	NP_071396.4	0	0	0	1.967613	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)	34	4265	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	0	1	hg19	c.4160A>T	CCDS47381.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.859464|5.859464	0.97036|0.97036	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.74315	.|-0.79;1.52;-0.83;-0.79;-0.79;-0.79	5.6|5.6	5.6|5.6	0.85130|0.85130	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.998;1.0	.|D;D;D;D	.|0.91635	.|0.934;0.999;0.969;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	16.0773|16.0773	0.80976|0.80976	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1374;1387;1387;1374	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	781|1374;391;1387;1387;1374;1387	.|ENSP00000368091:N1374I;ENSP00000425616:N391I;ENSP00000259711:N1387I;ENSP00000368103:N1387I;ENSP00000368120:N1374I;ENSP00000368093:N1387I	.|ENSP00000259711:N1387I	M|N	-|-	1|2	0|0	0|0	KIF13A|KIF13A	17885497|17885497	17885497|17885497	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.992000|0.992000	0.81027|0.81027	7.655000|7.655000	0.83696|0.83696	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	ATG|AAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-11.325590	1	0.170000				6	6		64	64	0		1	1		0	0	16	0		9.672288e-01	9.567695e-01	0	13	0	51	0	6	64
KIF13A	63971	broad.mit.edu	37	6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000259711.6	-	27	3419	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1105					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)			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)			GTATTCTCGTCGTTTAATGAG	0.393																																						ENST00000259711.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(3313-3315)cGa>cAa		kinesin family member 13A							308.0	283.0	291.0					6																	17788054		1891	4124	6015	SO:0001583	missense	63971	0	0					g.chr6:17788054C>T	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.3314G>A	chr6.hg19:g.17788054C>T	ENSP00000259711:p.Arg1105Gln	0					KIF13A_ENST00000378814.5_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q	p.R1105Q	NM_022113.5	NP_071396.4	0	0	0	1.967613	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)	27	3419	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	1	1	hg19	c.3314G>A	CCDS47381.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779455|5.779455	0.96929|0.96929	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.79554	.|-1.27;0.99;-1.28;-1.25;-1.27;-1.25	5.9|5.9	5.9|5.9	0.94986|0.94986	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89455|0.89455	0.6720|0.6720	M|M	0.77103|0.77103	2.36|2.36	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	.|0.987;0.998;0.999;0.998	D|D	0.89481|0.89481	0.3750|0.3750	5|10	.|0.87932	.|D	.|0	.|.	20.2723|20.2723	0.98479|0.98479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1092;1105;1105;1092	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	N|Q	499|1092;109;1105;1105;1092;1105;103	.|ENSP00000368091:R1092Q;ENSP00000425616:R109Q;ENSP00000259711:R1105Q;ENSP00000368103:R1105Q;ENSP00000368120:R1092Q;ENSP00000368093:R1105Q	.|ENSP00000259711:R1105Q	D|R	-|-	1|2	0|0	0|0	KIF13A|KIF13A	17896033|17896033	17896033|17896033	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.966000|0.966000	0.64601|0.64601	7.776000|7.776000	0.85560|0.85560	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				104	102		512	507	1		1	1		0	0	82	0		1	9.999970e-01	0	13	0	77	0	104	512
KIF13A	63971	broad.mit.edu	37	6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000259711.6	-	16	1852	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378814.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	583					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)			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)			TCCATCTGTGCAAATTCATAG	0.468																																						ENST00000259711.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(1747-1749)Gca>Aca		kinesin family member 13A							106.0	107.0	107.0					6																	17826038		1922	4132	6054	SO:0001583	missense	63971	0	0					g.chr6:17826038C>T	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.1747G>A	chr6.hg19:g.17826038C>T	ENSP00000259711:p.Ala583Thr	0					KIF13A_ENST00000378814.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T	p.A583T	NM_022113.5	NP_071396.4	0	0	0	1.967613	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)	16	1852	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	1	1	hg19	c.1747G>A	CCDS47381.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.610702	0.96637	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.998	D;D;D;D;D	0.80764	0.994;0.931;0.982;0.988;0.937	D	0.89111	0.3496	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	554;583;583;583;583	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	T	583	ENSP00000368091:A583T;ENSP00000259711:A583T;ENSP00000368103:A583T;ENSP00000368120:A583T;ENSP00000368093:A583T	ENSP00000259711:A583T	A	-	1	0	0	KIF13A	17934017	17934017	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.432000	0.80349	2.894000	0.99253	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000				88	86		385	380	1		1	1		0	0	100	0		1	9.998880e-01	0	7	0	53	0	88	385
KIF13A	63971	broad.mit.edu	37	6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000259711.6	-	8	763	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378814.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	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)			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)			GCATGGGAGCGGCTGCTTTCT	0.468																																						ENST00000259711.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				64						c.(658-660)Cgc>Tgc		kinesin family member 13A							110.0	112.0	111.0					6																	17850613		1952	4131	6083	SO:0001583	missense	63971	1	120856	25				g.chr6:17850613G>A	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.658C>T	chr6.hg19:g.17850613G>A	ENSP00000259711:p.Arg220Cys	0					KIF13A_ENST00000378814.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C	p.R220C	NM_022113.5	NP_071396.4	0	0	0	1.967613	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)	8	763	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	1	1	hg19	c.658C>T	CCDS47381.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263361	0.95399	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.78	5.78	0.91487	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	220	ENSP00000368091:R220C;ENSP00000259711:R220C;ENSP00000368103:R220C;ENSP00000368120:R220C;ENSP00000368093:R220C	ENSP00000259711:R220C	R	-	1	0	0	KIF13A	17958592	17958592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.724000	0.93272	0.563000	0.77884	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-3.285855	1	0.170000				40	39		195	189	1		1	1		0	0	41	0		1	9.989713e-01	0	9	0	45	0	40	195
NHLRC1	378884	broad.mit.edu	37	6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	174					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)			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)			AGGGTACCTAATGTCTTGGGC	0.552																																						ENST00000340650.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(520-522)aTt>aGt		NHL repeat containing E3 ubiquitin protein ligase 1							105.0	111.0	109.0					6																	18122317		2203	4300	6503	SO:0001583	missense	378884	0	0					g.chr6:18122317A>C	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.521T>G	chr6.hg19:g.18122317A>C	ENSP00000345464:p.Ile174Ser	0						p.I174S	NM_198586.2	NP_940988.2	0	0	0	1.967613	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)	1	534	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	1	1	hg19	c.521T>G	CCDS4542.1	1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977934	0.34942	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	3.8	0.43715	4.99	3.8	0.43715	Six-bladed beta-propeller, TolB-like (1);	0.376634	0.25402	N	0.030924	T	0.76147	0.3947	L	0.43152	1.355	0.34863	D	0.742812	B	0.34015	0.435	B	0.32624	0.149	T	0.74290	-0.3713	10	0.72032	D	0.01	-2.1043	10.6441	0.45610	0.8561:0.0:0.0:0.1438	.	174	Q6VVB1	NHLC1_HUMAN	S	174	ENSP00000345464:I174S	ENSP00000345464:I174S	I	-	2	0	0	NHLRC1	18230296	18230296	0.997000	0.39634	0.862000	0.33874	0.540000	0.34992	8.407000	0.90218	0.704000	0.31869	0.533000	0.62120	ATT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000				75	74		317	317	1		1	1		0	0	83	0		1	7.786112e-01	0	3	0	11	0	75	317
KDM1B	221656	broad.mit.edu	37	6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000297792.5	+	9	886	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	369					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478																																						ENST00000297792.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				25						c.(709-711)Gtg>Atg		lysine (K)-specific demethylase 1B							93.0	78.0	83.0					6																	18197423		2203	4300	6503	SO:0001583	missense	221656	1	121412	29				g.chr6:18197423G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.709G>A	chr6.hg19:g.18197423G>A	ENSP00000297792:p.Val237Met	0					KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M|KDM1B_ENST00000546309.2_Intron	p.V237M			0	0	0	1.967613	Q8NB78	KDM1B_HUMAN		9	886	+			A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	1	1	hg19	c.709G>A	CCDS34343.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609532	0.87258	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.33438	1.43;1.41;1.41	5.97	5.97	0.96955	5.97	5.97	0.96955	Homeodomain-like (1);SWIRM (1);	0.433457	0.23626	N	0.046194	T	0.41994	0.1183	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66602	0.469;0.945	T	0.11717	-1.0576	10	0.54805	T	0.06	-19.5281	20.4135	0.99023	0.0:0.0:1.0:0.0	.	369;237	Q8NB78;A2A2C6	KDM1B_HUMAN;.	M	369;237;237;369	ENSP00000373522:V369M;ENSP00000380419:V237M;ENSP00000297792:V237M	ENSP00000297792:V237M	V	+	1	0	0	KDM1B	18305402	18305402	1.000000	0.71417	0.283000	0.24790	0.995000	0.86356	9.395000	0.97266	2.835000	0.97688	0.591000	0.81541	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_153042			38	38		195	192	1		1	1		0	0	54	0		1	9.889073e-01	0	11	0	28	0	38	195
KDM1B	221656	broad.mit.edu	37	6	18208416	18208416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000297792.5	+	13	1326	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000388870.2_Silent_p.G616G|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	615					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463																																						ENST00000297792.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1147-1149)ggC>ggT		lysine (K)-specific demethylase 1B							169.0	160.0	163.0					6																	18208416		2203	4300	6503	SO:0001819	synonymous_variant	221656	0	0					g.chr6:18208416C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1149C>T	chr6.hg19:g.18208416C>T		0					KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000388870.2_Silent_p.G616G|KDM1B_ENST00000546309.2_Intron	p.G383G			0	0	0	1.967613	Q8NB78	KDM1B_HUMAN		13	1326	+			A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	1	1	hg19	c.1149C>T	CCDS34343.1	1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109624	0.20714	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.16	0.175	0.15045	5.16	0.175	0.15045	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-3.398	1.9357	0.03336	0.1705:0.2963:0.328:0.2052	.	.	.	.	V	433	.	.	A	+	2	0	0	KDM1B	18316395	18316395	0.002000	0.14202	0.050000	0.19076	0.510000	0.34073	-0.669000	0.05262	0.065000	0.16485	0.655000	0.94253	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_153042			68	68		343	332	1		1	1		0	0	94	0		1	9.993315e-01	0	15	0	42	0	68	343
KDM1B	221656	broad.mit.edu	37	6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000297792.5	+	16	1606	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M|KDM1B_ENST00000546309.2_5'UTR			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	709					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527																																						ENST00000297792.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1429-1431)Ctg>Atg		lysine (K)-specific demethylase 1B							78.0	74.0	75.0					6																	18215253		2203	4300	6503	SO:0001583	missense	221656	0	0					g.chr6:18215253C>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1429C>A	chr6.hg19:g.18215253C>A	ENSP00000297792:p.Leu477Met	0					KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M|KDM1B_ENST00000546309.2_5'UTR	p.L477M			0	0	0	1.967613	Q8NB78	KDM1B_HUMAN		16	1606	+			A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	1	1	hg19	c.1429C>A	CCDS34343.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189827|3.189827	0.57909|0.57909	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;D;D	.|0.95788	.|-3.81;-3.81;-3.81	5.99|5.99	-7.43|-7.43	0.01383|0.01383	5.99|5.99	-7.43|-7.43	0.01383|0.01383	.|Amine oxidase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.97586	.|0.9209	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.991	.|D	.|0.97776	.|1.0229	.|10	.|0.72032	.|D	.|0.01	-15.261|-15.261	18.1844|18.1844	0.89788|0.89788	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	.|526;709;477	.|A2A2C4;Q8NB78;A2A2C6	.|.;KDM1B_HUMAN;.	X|M	526|710;478;477;707	.|ENSP00000373522:L710M;ENSP00000380419:L478M;ENSP00000297792:L477M	.|ENSP00000297792:L477M	C|L	+|+	3|1	2|2	2|2	KDM1B|KDM1B	18323232|18323232	18323232|18323232	0.968000|0.968000	0.33430|0.33430	0.539000|0.539000	0.28077|0.28077	0.688000|0.688000	0.40055|0.40055	0.250000|0.250000	0.18235|0.18235	-1.606000|-1.606000	0.01591|0.01591	-0.806000|-0.806000	0.03193|0.03193	TGC|CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	0		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_153042			54	52		255	246	1		1	1		0	0	49	0		1	9.833492e-01	0	6	0	27	0	54	255
KDM1B	221656	broad.mit.edu	37	6	18215342	18215342	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000297792.5	+	16	1695	c.1518G>T	c.(1516-1518)cgG>cgT	p.R506R	KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R|KDM1B_ENST00000546309.2_Silent_p.R29R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	738					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607																																						ENST00000297792.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999756	0.990000	1.000000																										0				25						c.(1516-1518)cgG>cgT		lysine (K)-specific demethylase 1B							52.0	50.0	51.0					6																	18215342		2203	4300	6503	SO:0001819	synonymous_variant	221656	0	0					g.chr6:18215342G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1518G>T	chr6.hg19:g.18215342G>T		0					KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R|KDM1B_ENST00000546309.2_Silent_p.R29R	p.R506R			0	0	0	1.967613	Q8NB78	KDM1B_HUMAN		16	1695	+			A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	1	1	hg19	c.1518G>T	CCDS34343.1	1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234472	0.22626	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.99	3.09	0.35607	5.99	3.09	0.35607	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	-16.0584	3.8774	0.09062	0.1203:0.4065:0.3342:0.139	.	.	.	.	V	556	.	.	G	+	2	0	0	KDM1B	18323321	18323321	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.073000	0.30691	0.352000	0.24053	0.650000	0.86243	GGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	0		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_153042			29	28		169	167	1		1	1		0	0	34	0		1	9.958687e-01	0	16	0	37	0	29	169
RNF144B	255488	broad.mit.edu	37	6	18439941	18439941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	99					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378																																						ENST00000259939.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				11						c.(295-297)caG>caA		ring finger protein 144B							173.0	157.0	162.0					6																	18439941		2203	4300	6503	SO:0001819	synonymous_variant	255488	0	0					g.chr6:18439941G>A	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.297G>A	chr6.hg19:g.18439941G>A		0					RNF144B_ENST00000429054.2_Intron	p.Q99Q	NM_182757.3	NP_877434.2	0	0	0	1.967613	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)	4	614	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Silent	SNP	ENST00000259939.3	1	1	hg19	c.297G>A	CCDS34345.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-19.996610	1	0.170000	XM_172581			42	41		216	211	1		1	0		0	0	62	0		1	8.566955e-01	0	0	0	20	0	42	216
MBOAT1	154141	broad.mit.edu	37	6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000324607.7	-	13	1572	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	470					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353																																						ENST00000324607.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1408-1410)Ttt>Att		membrane bound O-acyltransferase domain containing 1							105.0	105.0	105.0					6																	20102597		2203	4300	6503	SO:0001583	missense	154141	0	0					g.chr6:20102597A>T	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1408T>A	chr6.hg19:g.20102597A>T	ENSP00000324944:p.Phe470Ile	0					MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	p.F470I	NM_001080480.1	NP_001073949.1	0	0	0	1.967613	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)	13	1572	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	1	1	hg19	c.1408T>A	CCDS34346.1	1	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263539	0.05754	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.03	1.06	0.20224	5.03	1.06	0.20224	.	0.592069	0.18066	N	0.152795	T	0.02571	0.0078	N	0.20685	0.6	0.29436	N	0.859493	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.43893	-0.9363	10	0.11182	T	0.66	-8.0088	3.0293	0.06102	0.5593:0.0:0.1877:0.253	.	321;470	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	321;470	ENSP00000441568:F321I;ENSP00000324944:F470I	ENSP00000324944:F470I	F	-	1	0	0	MBOAT1	20210576	20210576	0.003000	0.15002	0.271000	0.24616	0.953000	0.61014	-0.053000	0.11846	0.466000	0.27193	0.533000	0.62120	TTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000				83	82		346	333	1		1	1		0	0	76	0		1	9.998746e-01	0	23	0	34	0	83	346
E2F3	1871	broad.mit.edu	37	6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	16					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607																																						ENST00000346618.3	1.000000	0.730000	1	9.300000e-01	0.990000	0.970800	0.990000	1.000000																										0				7						c.(46-48)Gcc>Acc		E2F transcription factor 3							12.0	19.0	17.0					6																	20402509		2139	4188	6327	SO:0001583	missense	1871	0	0					g.chr6:20402509G>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.46G>A	chr6.hg19:g.20402509G>A	ENSP00000262904:p.Ala16Thr	0					E2F3_ENST00000535432.1_5'Flank	p.A16T	NM_001949.4	NP_001940.1	0	0	0	1.967613	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)	1	112	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	0	1	hg19	c.46G>A	CCDS4545.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005005	0.74932	.	.	ENSG00000112242	ENST00000346618	T	0.09163	3.01	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.113819	0.38058	N	0.001839	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.42965	-0.9420	10	0.56958	D	0.05	.	15.8346	0.78789	0.0:0.0:1.0:0.0	.	16	O00716	E2F3_HUMAN	T	16	ENSP00000262904:A16T	ENSP00000262904:A16T	A	+	1	0	0	E2F3	20510488	20510488	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.241000	0.73720	0.555000	0.69702	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-8.654429	1	0.170000				17	17		148	146	0		1			0	0	10	0		9.999711e-01	0	0	0	0	0	0	17	148
CDKAL1	54901	broad.mit.edu	37	6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A	rs560146971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000378610.1	+	1	59	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000378624.4_5'UTR|CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	17					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)			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)			CGAAGATATCGTGTCTCAGGA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0					ENST00000378610.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(49-51)Gtg>Atg		CDK5 regulatory subunit associated protein 1-like 1							126.0	120.0	122.0					6																	20546630		2203	4300	6503	SO:0001583	missense	54901	15	121412	42				g.chr6:20546630G>A	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.49G>A	chr6.hg19:g.20546630G>A	ENSP00000367873:p.Val17Met	0					CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR	p.V17M			0	0	0	1.967613	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)	1	59	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	1	1	hg19	c.49G>A	CCDS4546.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137874	0.56936	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.47528	0.84;0.84	5.5	4.62	0.57501	5.5	4.62	0.57501	.	0.064498	0.64402	D	0.000009	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P;D	0.54397	0.936;0.966	P;P	0.52672	0.528;0.706	T	0.55412	-0.8145	10	0.66056	D	0.02	.	13.5669	0.61824	0.0751:0.0:0.9249:0.0	.	17;17	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	M	17	ENSP00000274695:V17M;ENSP00000367873:V17M	ENSP00000274695:V17M	V	+	1	0	0	CDKAL1	20654609	20654609	1.000000	0.71417	0.946000	0.38457	0.293000	0.27360	3.994000	0.56994	1.529000	0.49120	0.655000	0.94253	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000	NM_017774			83	78		322	315	1		1	1		0	0	84	0		1	9.998344e-01	0	8	0	44	0	83	322
CDKAL1	54901	broad.mit.edu	37	6	20781393	20781393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000378610.1	+	6	545	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L|CDKAL1_ENST00000274695.4_Silent_p.L179L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					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)			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)			TGTGAGACTGCTGGGTCAGAA	0.398																																						ENST00000378610.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(535-537)Ctg>Ttg		CDK5 regulatory subunit associated protein 1-like 1							156.0	152.0	153.0					6																	20781393		2203	4300	6503	SO:0001819	synonymous_variant	54901	0	0					g.chr6:20781393C>T	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.535C>T	chr6.hg19:g.20781393C>T		0					RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.L179L|CDKAL1_ENST00000378624.4_Silent_p.L109L	p.L179L			0	0	0	1.967613	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)	6	545	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	1	1	hg19	c.535C>T	CCDS4546.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_017774			82	81		390	380	1		1	1		0	0	96	0		1	9.988528e-01	0	12	0	38	0	82	390
PRL	5617	broad.mit.edu	37	6	22290448	22290448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	149					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)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502																																						ENST00000306482.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(445-447)gaG>gaA		prolactin							101.0	95.0	97.0					6																	22290448		2203	4300	6503	SO:0001819	synonymous_variant	5617	0	0					g.chr6:22290448C>T	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.447G>A	chr6.hg19:g.22290448C>T		0					RP3-404K8.2_ENST00000561912.1_RNA	p.E149E	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	0	0	0	1.967613	P01236	PRL_HUMAN		4	965	-	Ovarian(93;0.163)		Q15199|Q92996	Silent	SNP	ENST00000306482.1	1	1	hg19	c.447G>A	CCDS4548.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	1	0	0		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_000948			57	57		315	310	1		1			0	0	68	0		1	0	0	0	0	0	0	57	315
DCDC2	51473	broad.mit.edu	37	6	24291177	24291177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	229					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					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)				GCCTTCTCATCGTTGACTTGT	0.413																																						ENST00000378454.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				32						c.(685-687)acG>acA		doublecortin domain containing 2							117.0	109.0	112.0					6																	24291177		2203	4300	6503	SO:0001819	synonymous_variant	51473	1	121412	28				g.chr6:24291177C>T	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.687G>A	chr6.hg19:g.24291177C>T		0						p.T229T	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	0	0	0	1.967613	Q9UHG0	DCDC2_HUMAN		5	988	-		Ovarian(999;0.101)	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	1	1	hg19	c.687G>A	CCDS4550.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_016356			37	36		172	163	1		1	1		0	0	40	0		1	9.920434e-01	0	14	0	24	0	37	172
GPLD1	2822	broad.mit.edu	37	6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T	rs370617124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	816					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCAGCAATGACGACTTGGTTC	0.468																																						ENST00000230036.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999645	0.990000	1.000000																										0				32						c.(2446-2448)Gtc>Atc		glycosylphosphatidylinositol specific phospholipase D1							83.0	70.0	75.0					6																	24429337		2203	4300	6503	SO:0001583	missense	2822	2	121406	28				g.chr6:24429337C>T	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.2446G>A	chr6.hg19:g.24429337C>T	ENSP00000230036:p.Val816Ile	0						p.V816I	NM_001503.3	NP_001494.2	0	0	0	1.967613	P80108	PHLD_HUMAN		25	2556	-			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	0	1	hg19	c.2446G>A	CCDS4553.1	1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850426	0.17034	.	.	ENSG00000112293	ENST00000230036	T	0.69040	-0.37	5.29	4.42	0.53409	5.29	4.42	0.53409	.	0.086699	0.48767	N	0.000172	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.26708	0.157	B	0.15052	0.012	T	0.26744	-1.0094	10	0.08179	T	0.78	-25.2769	12.953	0.58411	0.0:0.9208:0.0:0.0792	.	816	P80108	PHLD_HUMAN	I	816	ENSP00000230036:V816I	ENSP00000230036:V816I	V	-	1	0	0	GPLD1	24537316	24537316	0.998000	0.40836	0.947000	0.38551	0.058000	0.15608	2.947000	0.49058	1.460000	0.47911	0.655000	0.94253	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	0	0	1		13	2	2	1		1	1	47		47	47	1	2.060000	-3.339614	1	0.170000	NM_001503			26	26		149	147	1		1	0		1	0	47	0		9.903956e-01	1.714787e-01	0	1	0	4	0	26	149
ALDH5A1	7915	broad.mit.edu	37	6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000357578.3	+	5	917	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	258					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CAATGTTATTCCCTGTTCTCG	0.403																																						ENST00000357578.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(772-774)Ccc>Tcc		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)						143.0	130.0	134.0					6																	24515440		2203	4300	6503	SO:0001583	missense	7915	0	0					g.chr6:24515440C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.772C>T	chr6.hg19:g.24515440C>T	ENSP00000350191:p.Pro258Ser	0					ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	p.P258S	NM_001080.3	NP_001071.1	0	0	0	1.967613	P51649	SSDH_HUMAN		5	917	+			B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	1	1	hg19	c.772C>T	CCDS4555.1	1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107257	0.56291	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.79065	-0.1956	10	0.72032	D	0.01	-12.4064	19.2129	0.93765	0.0:1.0:0.0:0.0	.	258;271	P51649;G5E949	SSDH_HUMAN;.	S	258;170;230;271	ENSP00000350191:P258S;ENSP00000438193:P170S;ENSP00000417687:P230S;ENSP00000314649:P271S	ENSP00000314649:P271S	P	+	1	0	0	ALDH5A1	24623419	24623419	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.635000	0.74295	2.778000	0.95560	0.591000	0.81541	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-3.321321	1	0.170000				88	84		470	448	1		1	1		0	0	95	0		1	8.800934e-01	0	9	0	13	0	88	470
KIAA0319	9856	broad.mit.edu	37	6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000378214.3	-	11	2331	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	603	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413																																						ENST00000378214.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1807-1809)Gat>Tat		KIAA0319							141.0	118.0	126.0					6																	24572854		2203	4300	6503	SO:0001583	missense	9856	0	0					g.chr6:24572854C>A	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.1807G>T	chr6.hg19:g.24572854C>A	ENSP00000367459:p.Asp603Tyr	0					KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y	p.D603Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	0	0	0	1.967613	Q5VV43	K0319_HUMAN		11	2331	-			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	1	1	hg19	c.1807G>T	CCDS34348.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838829	0.71373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.31	4.31	0.51392	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.075859	0.52532	D	0.000064	T	0.59128	0.2171	H	0.98314	4.2	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	0.78226	-0.2286	10	0.87932	D	0	-16.8604	16.9707	0.86298	0.0:1.0:0.0:0.0	.	603;594;603	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	603;594;558;603;603	ENSP00000439700:D603Y;ENSP00000442403:D594Y;ENSP00000401086:D558Y;ENSP00000367459:D603Y;ENSP00000437656:D603Y	ENSP00000367459:D603Y	D	-	1	0	0	KIAA0319	24680833	24680833	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	6.823000	0.75282	2.207000	0.71202	0.655000	0.94253	GAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_014809			54	53		208	198	1		1	0		0	0	58	0		1	1.132075e-01	0	0	0	3	0	54	208
TDP2	51567	broad.mit.edu	37	6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000378198.4	-	7	1134	c.964G>A	c.(964-966)Gca>Aca	p.A322T	TDP2_ENST00000341060.3_Missense_Mutation_p.A264T|TDP2_ENST00000545995.1_Missense_Mutation_p.A352T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	322					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403								Direct reversal of damage																														ENST00000378198.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(964-966)Gca>Aca	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							94.0	91.0	92.0					6																	24651141		2203	4300	6503	SO:0001583	missense	51567	1	121412	31				g.chr6:24651141C>T	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.964G>A	chr6.hg19:g.24651141C>T	ENSP00000367440:p.Ala322Thr	0					TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000341060.3_Missense_Mutation_p.A264T	p.A322T			0	0	0	1.967613	O95551	TYDP2_HUMAN		7	1134	-			B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	1	1	hg19	c.964G>A	CCDS4557.1	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984956	0.35036	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.21734	1.99;1.99;1.99	5.46	1.1	0.20463	5.46	1.1	0.20463	Endonuclease/exonuclease/phosphatase (2);	0.225345	0.46758	N	0.000261	T	0.03959	0.0111	L	0.33485	1.01	0.30381	N	0.781984	B	0.14805	0.011	B	0.17433	0.018	T	0.44034	-0.9354	10	0.15066	T	0.55	-24.3697	6.417	0.21721	0.093:0.6123:0.1402:0.1545	.	322	O95551	TYDP2_HUMAN	T	322;352;244;264	ENSP00000367440:A322T;ENSP00000437637:A352T;ENSP00000345345:A264T	ENSP00000345345:A264T	A	-	1	0	0	TDP2	24759120	24759120	0.997000	0.39634	0.997000	0.53966	0.980000	0.70556	1.004000	0.29822	0.222000	0.20900	-0.140000	0.14226	GCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				55	54		213	210	1		1	1		0	0	46	0		1	1	0	37	0	159	0	55	213
C6orf62	81688	broad.mit.edu	37	6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	168						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GACAACGATTCCAGTCTTGTC	0.383																																						ENST00000378119.4	0.510000	0.200000	4.300000e-01	2.600000e-01	0.340000	0.351938	0.340000	0.330000																										0				10						c.(502-504)gGa>gTa		chromosome 6 open reading frame 62							204.0	181.0	189.0					6																	24709066		2203	4300	6503	SO:0001583	missense	81688	0	0					g.chr6:24709066C>A	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.503G>T	chr6.hg19:g.24709066C>A	ENSP00000367359:p.Gly168Val	0					RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	p.G168V	NM_030939.4	NP_112201.1	0	0	0	1.967613	Q9GZU0	CF062_HUMAN		4	2670	-			Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	1	1	hg19	c.503G>T	CCDS4559.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.493228	0.96339	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.50001	0.76;0.76;0.76	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56823	-0.7915	10	0.87932	D	0	-7.5051	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q9GZU0	CF062_HUMAN	V	168;110;139	ENSP00000367359:G168V;ENSP00000446225:G110V;ENSP00000367342:G139V	ENSP00000367342:G139V	G	-	2	0	0	C6orf62	24817045	24817045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.941000	0.99782	0.655000	0.94253	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	0	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.229107	1	0.170000	NM_030939			18	18		600	581	0		1	1		0	0	110	0		9.999763e-01	9.999669e-01	0	16	0	562	0	18	600
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	rs199969829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999916	0.990000	1.000000																										0				50						c.(409-411)Cgc>Tgc		leucine rich repeat containing 16A							48.0	50.0	49.0					6																	25450163		1846	4086	5932	SO:0001583	missense	55604	2	120800	34				g.chr6:25450163C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	chr6.hg19:g.25450163C>T	ENSP00000331983:p.Arg137Cys	0					LRRC16A_ENST00000377969.3_5'UTR	p.R137C	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	0	0	0	1.967613	Q5VZK9	LR16A_HUMAN		6	777	+			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	1	1	hg19	c.409C>T	CCDS54973.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	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	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	0	LRRC16A	25558142	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-16.006860	1	0.170000	NM_017640			26	26		128	127	1		1	1		0	0	18	0		1	9.957296e-01	0	9	0	37	0	26	128
LRRC16A	55604	broad.mit.edu	37	6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	226					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCCTCTAAGGATCTAAAAC	0.363																																						ENST00000329474.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(676-678)aaG>aaT		leucine rich repeat containing 16A							159.0	150.0	152.0					6																	25466164		1853	4091	5944	SO:0001583	missense	55604	0	0					g.chr6:25466164G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.678G>T	chr6.hg19:g.25466164G>T	ENSP00000331983:p.Lys226Asn	0					LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	p.K226N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	0	0	0	1.967613	Q5VZK9	LR16A_HUMAN		9	1046	+			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	1	1	hg19	c.678G>T	CCDS54973.1	1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232859	0.39498	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.89	5.02	0.67125	5.89	5.02	0.67125	.	0.048959	0.85682	D	0.000000	T	0.34483	0.0899	L	0.50333	1.59	0.48087	D	0.999589	P;P;P;P	0.46987	0.868;0.469;0.888;0.589	B;B;P;B	0.47915	0.358;0.253;0.561;0.288	T	0.10894	-1.0610	10	0.22706	T	0.39	.	13.3814	0.60768	0.0724:0.0:0.9276:0.0	.	226;226;226;65	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	226;226;65	ENSP00000331983:K226N;ENSP00000367206:K65N	ENSP00000331983:K226N	K	+	3	2	2	LRRC16A	25574143	25574143	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	5.750000	0.68712	1.508000	0.48769	-0.141000	0.14075	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_017640			90	88		389	378	1		1	1		0	0	123	0		1	9.974054e-01	0	10	0	31	0	90	389
LRRC16A	55604	broad.mit.edu	37	6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468																																						ENST00000329474.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(997-999)Cca>Tca		leucine rich repeat containing 16A							182.0	180.0	181.0					6																	25488745		1957	4160	6117	SO:0001583	missense	55604	0	0					g.chr6:25488745C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.997C>T	chr6.hg19:g.25488745C>T	ENSP00000331983:p.Pro333Ser	0						p.P333S	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	0	0	0	1.967613	Q5VZK9	LR16A_HUMAN		13	1365	+			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	1	1	hg19	c.997C>T	CCDS54973.1	1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246328	0.22796	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54675	0.56	4.99	4.13	0.48395	4.99	4.13	0.48395	.	0.321867	0.33610	N	0.004730	T	0.16514	0.0397	N	0.22421	0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19148	0.004;0.004;0.024	T	0.08827	-1.0703	10	0.08381	T	0.77	.	10.5987	0.45354	0.0:0.8302:0.0:0.1698	.	333;333;333	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	333	ENSP00000331983:P333S	ENSP00000331983:P333S	P	+	1	0	0	LRRC16A	25596724	25596724	1.000000	0.71417	0.868000	0.34077	0.725000	0.41563	5.489000	0.66875	1.230000	0.43646	-0.136000	0.14681	CCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_017640			121	118		558	547	1		1	1		0	0	159	0		1	9.999420e-01	0	21	0	45	0	121	558
LRRC16A	55604	broad.mit.edu	37	6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T	rs370215465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	415					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373																																						ENST00000329474.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				50						c.(1243-1245)tCt>tTt		leucine rich repeat containing 16A							131.0	124.0	126.0					6																	25495362		1838	4087	5925	SO:0001583	missense	55604	0	0					g.chr6:25495362C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1244C>T	chr6.hg19:g.25495362C>T	ENSP00000331983:p.Ser415Phe	0						p.S415F	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	0	0	0	1.967613	Q5VZK9	LR16A_HUMAN		16	1612	+			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	1	1	hg19	c.1244C>T	CCDS54973.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913803	0.92178	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54279	0.58	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.101931	0.64402	D	0.000001	T	0.67599	0.2910	M	0.74467	2.265	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	P;P;D	0.63703	0.877;0.851;0.917	T	0.70550	-0.4841	10	0.72032	D	0.01	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	415;415;415	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	415	ENSP00000331983:S415F	ENSP00000331983:S415F	S	+	2	0	0	LRRC16A	25603341	25603341	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	6.980000	0.76160	2.695000	0.91970	0.561000	0.74099	TCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-19.318390	1	0.170000	NM_017640			40	40		238	236	1		1	1		0	0	62	0		1	9.985921e-01	0	14	0	48	0	40	238
LRRC16A	55604	broad.mit.edu	37	6	25515950	25515950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	560					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557																																						ENST00000329474.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999337	0.990000	1.000000																										0				50						c.(1678-1680)gtC>gtA		leucine rich repeat containing 16A							52.0	56.0	55.0					6																	25515950		2172	4290	6462	SO:0001819	synonymous_variant	55604	0	0					g.chr6:25515950C>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1680C>A	chr6.hg19:g.25515950C>A		0						p.V560V	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	0	0	0	1.967613	Q5VZK9	LR16A_HUMAN		21	2048	+			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	1	1	hg19	c.1680C>A	CCDS54973.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_017640			14	13		55	53	1		1	1		0	0	22	0		9.998084e-01	9.997607e-01	0	21	0	43	0	14	55
SCGN	10590	broad.mit.edu	37	6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	142						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453																																						ENST00000377961.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(424-426)aAa>aTa		secretagogin, EF-hand calcium binding protein							156.0	161.0	159.0					6																	25670258		2203	4300	6503	SO:0001583	missense	10590	0	0					g.chr6:25670258A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.425A>T	chr6.hg19:g.25670258A>T	ENSP00000367197:p.Lys142Ile	0					SCGN_ENST00000334979.6_3'UTR	p.K142I	NM_006998.3	NP_008929.2	0	0	0	1.967613	O76038	SEGN_HUMAN		6	593	+			A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	1	1	hg19	c.425A>T	CCDS4561.1	1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000079689	ENST00000377961	T	0.10382	2.88	5.6	1.81	0.25067	5.6	1.81	0.25067	EF-hand-like domain (1);	0.407309	0.30859	N	0.008740	T	0.09423	0.0232	M	0.84585	2.705	0.44643	D	0.997626	B	0.23249	0.082	B	0.32022	0.139	T	0.02404	-1.1164	10	0.66056	D	0.02	.	11.0391	0.47820	0.7965:0.0:0.2035:0.0	.	142	O76038	SEGN_HUMAN	I	142	ENSP00000367197:K142I	ENSP00000367197:K142I	K	+	2	0	0	SCGN	25778237	25778237	0.009000	0.17119	0.185000	0.23176	0.961000	0.63080	1.379000	0.34340	-0.163000	0.10946	-1.450000	0.01041	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1	0	0	1		2	2	2	0		0	0	177		177	174	1	2.060000	-20.000000	1	0.170000				146	145		710	694	1		1	0		0	0	177	0		1	9.999996e-01	0	0	0	100	0	146	710
HIST1H2AA	221613	broad.mit.edu	37	6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542																																						ENST00000297012.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(277-279)Gaa>Aaa		histone cluster 1, H2aa							301.0	254.0	270.0					6																	25726479		2203	4300	6503	SO:0001583	missense	221613	0	0					g.chr6:25726479C>T	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.277G>A	chr6.hg19:g.25726479C>T	ENSP00000297012:p.Glu93Lys	0					HIST1H2BA_ENST00000274764.2_5'Flank	p.E93K	NM_170745.3	NP_734466.1	0	0	0	1.967613	Q96QV6	H2A1A_HUMAN		1	311	-				Missense_Mutation	SNP	ENST00000297012.3	1	1	hg19	c.277G>A	CCDS4562.1	1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959682	0.34565	.	.	ENSG00000164508	ENST00000297012	T	0.51325	0.71	3.65	2.78	0.32641	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (1);	0.000000	0.50627	D	0.000116	T	0.67571	0.2907	H	0.95470	3.675	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.74907	-0.3504	10	0.87932	D	0	.	9.4106	0.38489	0.0:0.8916:0.0:0.1084	.	93	Q96QV6	H2A1A_HUMAN	K	93	ENSP00000297012:E93K	ENSP00000297012:E93K	E	-	1	0	0	HIST1H2AA	25834458	25834458	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.388000	0.66249	1.133000	0.42147	-0.142000	0.14014	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	1	0	1		2	2	2	0		0	0	188		188	187	1	2.060000	-20.000000	1	0.170000	NM_170745			180	177		707	692	1		1			0	0	188	0		1	0	0	0	0	0	0	180	707
SLC17A4	10050	broad.mit.edu	37	6	25769379	25769379	+	Silent	SNP	G	G	A	rs376073753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000439485.2_Silent_p.Q86Q|SLC17A4_ENST00000397076.2_Silent_p.Q32Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	86					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		18938	0.0		0.0	False		,,,				2504	0.002					ENST00000377905.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(256-258)caG>caA		solute carrier family 17, member 4		G		0,4406		0,0,2203	71.0	76.0	74.0		258	1.6	0.1	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A4	NM_005495.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		86/498	25769379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10050	5	121402	38				g.chr6:25769379G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.258G>A	chr6.hg19:g.25769379G>A		0					SLC17A4_ENST00000397076.2_Silent_p.Q32Q|SLC17A4_ENST00000439485.2_Silent_p.Q86Q	p.Q86Q	NM_005495.2	NP_005486.1	0	0	0	1.967613	Q9Y2C5	S17A4_HUMAN		3	377	+			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	1	1	hg19	c.258G>A	CCDS4564.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.976913	1	0.170000				59	56		268	264	1		1	0		0	0	63	0		1	3.739041e-01	0	0	0	7	0	59	268
SLC17A4	10050	broad.mit.edu	37	6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	229					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443																																						ENST00000377905.4	0.930000	0.560000	8.400000e-01	6.400000e-01	0.730000	0.744569	0.730000	0.730000																										0				39						c.(685-687)Cct>Tct		solute carrier family 17, member 4							297.0	277.0	284.0					6																	25771219		2203	4300	6503	SO:0001583	missense	10050	0	0					g.chr6:25771219C>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.685C>T	chr6.hg19:g.25771219C>T	ENSP00000367137:p.Pro229Ser	0					SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	p.P229S	NM_005495.2	NP_005486.1	0	0	0	1.967613	Q9Y2C5	S17A4_HUMAN		6	804	+			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	1	1	hg19	c.685C>T	CCDS4564.1	0	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207591	0.79240	.	.	ENSG00000146039	ENST00000377905	T	0.58358	0.34	5.69	5.69	0.88448	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399292	0.21607	N	0.071844	T	0.65801	0.2726	M	0.75085	2.285	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	T	0.62006	-0.6945	10	0.37606	T	0.19	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	229	Q9Y2C5	S17A4_HUMAN	S	229	ENSP00000367137:P229S	ENSP00000367137:P229S	P	+	1	0	0	SLC17A4	25879198	25879198	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.603000	0.46266	2.860000	0.98153	0.655000	0.94253	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-9.404344	1	0.170000				54	54		794	778	0		1	0		0	0	137	0		1	5.331492e-02	0	0	0	6	0	54	794
SLC17A1	6568	broad.mit.edu	37	6	25811866	25811866	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000476801.1_Splice_Site_p.G344*|SLC17A1_ENST00000427328.1_Splice_Site_p.G290*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					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)			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						TGTTGCTTACCTGCTGCTGTG	0.468																																						ENST00000244527.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1030-1032)Gga>Tga		solute carrier family 17 (organic anion transporter), member 1							92.0	84.0	87.0					6																	25811866		2203	4300	6503	SO:0001630	splice_region_variant	6568	0	0					g.chr6:25811866C>A		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.1030+1G>T	chr6.hg19:g.25811866C>A		0					SLC17A1_ENST00000476801.1_Splice_Site_p.G344*|SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000427328.1_Splice_Site_p.G290*	p.G344*	NM_005074.3	NP_005065.2	0	0	0	1.967613	Q14916	NPT1_HUMAN		9	1145	-			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	0	1	hg19	c.1030G>T	CCDS4565.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242864	0.58995	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.48	3.48	0.39840	3.48	3.48	0.39840	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7785	0.46363	0.0:1.0:0.0:0.0	.	.	.	.	X	344;290;344;290	.	.	G	-	1	0	0	SLC17A1	25919845	25919845	0.996000	0.38824	0.975000	0.42487	0.106000	0.19336	4.214000	0.58527	2.248000	0.74166	0.650000	0.86243	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2	0	0	1		15	2	2	0		0	1	79		79	79	1	2.060000	-2.939177	1	0.170000		Nonsense_Mutation		56	56		289	283	0		1			0	0	79	0		1	0	0	0	0	0	0	56	289
SLC17A3	10786	broad.mit.edu	37	6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000360657.3	-	6	855	c.570A>C	c.(568-570)gaA>gaC	p.E190D	SLC17A3_ENST00000397060.4_Missense_Mutation_p.E268D|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	190					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408																																						ENST00000360657.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(568-570)gaA>gaC		solute carrier family 17 (organic anion transporter), member 3							158.0	153.0	155.0					6																	25851014		2203	4300	6503	SO:0001583	missense	10786	0	0					g.chr6:25851014T>G	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.570A>C	chr6.hg19:g.25851014T>G	ENSP00000353873:p.Glu190Asp	0					SLC17A3_ENST00000397060.4_Missense_Mutation_p.E268D|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D	p.E190D			0	0	0	1.967613	O00476	NPT4_HUMAN		6	855	-			B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	1	1	hg19	c.570A>C	CCDS4566.2	1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119339	0.37436	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	0.898	0.19264	4.81	0.898	0.19264	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.48767	D	0.000164	T	0.33000	0.0848	L	0.48877	1.53	0.31091	N	0.710852	B;P;B;P	0.35700	0.41;0.516;0.193;0.516	B;B;B;B	0.43867	0.241;0.434;0.306;0.267	T	0.18524	-1.0334	10	0.31617	T	0.26	.	7.0945	0.25301	0.0:0.2741:0.0:0.7259	.	190;249;268;190	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	D	268;190;190	ENSP00000380250:E268D;ENSP00000353873:E190D;ENSP00000355307:E190D	ENSP00000353873:E190D	E	-	3	2	2	SLC17A3	25958993	25958993	0.724000	0.28038	0.971000	0.41717	0.599000	0.36880	-0.729000	0.04920	-0.020000	0.14032	0.477000	0.44152	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000				66	66		300	292	1		1			0	0	69	0		1	0	0	0	0	0	0	66	300
SLC17A3	10786	broad.mit.edu	37	6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A	rs370057568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000360657.3	-	3	491	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000397060.4_Missense_Mutation_p.S69I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	69					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGGGCTTGTGCTGTTGACCAT	0.468																																						ENST00000360657.3	0.940000	0.450000	8.100000e-01	5.500000e-01	0.670000	0.689201	0.670000	0.670000																										0				20						c.(205-207)aGc>aTc		solute carrier family 17 (organic anion transporter), member 3		C	ILE/SER,ILE/SER	0,4406		0,0,2203	216.0	167.0	183.0		206,206	-0.3	0.9	6		183	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	142,142	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/499,69/421	25862558	1,13005	2203	4300	6503	SO:0001583	missense	10786	4	121412	40				g.chr6:25862558C>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.206G>T	chr6.hg19:g.25862558C>A	ENSP00000353873:p.Ser69Ile	0					SLC17A3_ENST00000397060.4_Missense_Mutation_p.S69I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I	p.S69I			0	0	0	1.967613	O00476	NPT4_HUMAN		3	491	-			B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	1	1	hg19	c.206G>T	CCDS4566.2	0	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587124	0.28268	0.0	1.16E-4	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64260	0.37;-0.09;-0.09	3.81	-0.328	0.12690	3.81	-0.328	0.12690	.	0.911600	0.09094	N	0.849515	T	0.52533	0.1740	M	0.69523	2.12	0.20638	N	0.999876	P;D;P;P	0.53151	0.845;0.958;0.828;0.845	B;P;P;B	0.61201	0.298;0.885;0.781;0.298	T	0.42396	-0.9454	10	0.19590	T	0.45	.	4.2789	0.10822	0.0:0.4057:0.3677:0.2265	.	69;50;69;69	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	69	ENSP00000380250:S69I;ENSP00000353873:S69I;ENSP00000355307:S69I	ENSP00000353873:S69I	S	-	2	0	0	SLC17A3	25970537	25970537	0.239000	0.23836	0.874000	0.34290	0.911000	0.54048	-0.317000	0.08060	-0.091000	0.12440	0.557000	0.71058	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-6.225832	1	0.170000				25	24		404	399	0		1			0	0	73	0		9.999998e-01	0	0	0	0	0	0	25	404
SLC17A2	10246	broad.mit.edu	37	6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000265425.3	-	8	1062	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					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)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473																																						ENST00000265425.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1042-1044)Cga>Tga		solute carrier family 17, member 2							88.0	87.0	87.0					6																	25915985		2203	4300	6503	SO:0001587	stop_gained	10246	1	121412	31				g.chr6:25915985G>A	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.1042C>T	chr6.hg19:g.25915985G>A	ENSP00000265425:p.Arg348*	0					SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*	p.R348*			0	0	0	1.967613	O00624	NPT3_HUMAN		8	1062	-			A6NK81|A6NLD6|Q5TB84|Q76P85	Nonsense_Mutation	SNP	ENST00000265425.3	0	1	hg19	c.1042C>T		1	.	.	.	.	.	.	.	.	.	.	G	40	8.098953	0.98654	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	.	.	.	4.93	3.12	0.35913	4.93	3.12	0.35913	.	0.000000	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6349	0.45558	0.0:0.0:0.667:0.333	.	.	.	.	X	348	.	ENSP00000265425:R348X	R	-	1	2	2	SLC17A2	26023964	26023964	0.983000	0.35010	0.966000	0.40874	0.795000	0.44927	2.267000	0.43329	0.774000	0.33427	-0.975000	0.02590	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1	1	0	1		16	2	2	1		1	1	76		76	76	1	2.060000	-20.000000	1	0.170000				67	67		297	290	1		1			1	0	76	0		1	0	0	0	0	0	0	67	297
TRIM38	10475	broad.mit.edu	37	6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	178					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403																																						ENST00000357085.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(532-534)aAa>aCa		tripartite motif containing 38							55.0	55.0	55.0					6																	25972122		2203	4300	6503	SO:0001583	missense	10475	0	0					g.chr6:25972122A>C	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.533A>C	chr6.hg19:g.25972122A>C	ENSP00000349596:p.Lys178Thr	0					TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	p.K178T	NM_006355.3	NP_006346.1	0	0	0	1.967613	O00635	TRI38_HUMAN		5	1009	+			B2R862	Missense_Mutation	SNP	ENST00000357085.3	1	1	hg19	c.533A>C	CCDS4568.1	1	.	.	.	.	.	.	.	.	.	.	a	3.568	-0.088221	0.07097	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04502	3.61;3.61;3.61	4.55	0.716	0.18191	4.55	0.716	0.18191	.	0.495426	0.17267	N	0.180553	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.20577	0.03	T	0.46498	-0.9187	10	0.45353	T	0.12	.	5.0157	0.14335	0.5343:0.3685:0.0971:0.0	.	178	O00635	TRI38_HUMAN	T	178	ENSP00000443976:K178T;ENSP00000230099:K178T;ENSP00000349596:K178T	ENSP00000230099:K178T	K	+	2	0	0	TRIM38	26080101	26080101	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	0.306000	0.19279	0.123000	0.18342	-0.313000	0.08912	AAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				50	49		207	199	1		1	1		0	0	47	0		1	1	0	28	0	84	0	50	207
HIST1H1A	3024	broad.mit.edu	37	6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	197					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438																																						ENST00000244573.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(589-591)gCt>gAt		histone cluster 1, H1a							137.0	141.0	140.0					6																	26017371		2203	4300	6503	SO:0001583	missense	3024	0	0					g.chr6:26017371G>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.590C>A	chr6.hg19:g.26017371G>T	ENSP00000244573:p.Ala197Asp	0						p.A197D	NM_005325.3	NP_005316.1	0	0	0	1.967613	Q02539	H11_HUMAN		1	669	-			Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	1	1	hg19	c.590C>A	CCDS4569.1	1	.	.	.	.	.	.	.	.	.	.	N	9.614	1.131968	0.21041	.	.	ENSG00000124610	ENST00000244573	T	0.15017	2.46	4.31	0.178	0.15058	4.31	0.178	0.15058	.	0.421494	0.25194	N	0.032428	T	0.04407	0.0121	L	0.34521	1.04	0.29056	N	0.884229	B	0.32245	0.361	B	0.32289	0.143	T	0.29731	-1.0002	10	0.52906	T	0.07	-0.0034	9.339	0.38067	0.3167:0.0:0.6833:0.0	.	197	Q02539	H11_HUMAN	D	197	ENSP00000244573:A197D	ENSP00000244573:A197D	A	-	2	0	0	HIST1H1A	26125350	26125350	0.321000	0.24625	0.001000	0.08648	0.193000	0.23685	1.411000	0.34702	-0.110000	0.12022	-0.320000	0.08662	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_005325			174	173		872	856	1		1			0	0	156	0		1	0	0	0	0	0	0	174	872
HIST1H3B	8358	broad.mit.edu	37	6	26031956	26031956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	111					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517																																						ENST00000244661.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(331-333)tgC>tgT		histone cluster 1, H3b							77.0	77.0	77.0					6																	26031956		2203	4300	6503	SO:0001819	synonymous_variant	8358	0	0					g.chr6:26031956G>A	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.333C>T	chr6.hg19:g.26031956G>A		0						p.C111C	NM_003537.3	NP_003528.1	0	0	0	1.967613	P68431	H31_HUMAN		1	332	-			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	1	1	hg19	c.333C>T	CCDS4573.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.978782	1	0.170000	NM_003537			94	94		311	309	1		1			0	0	80	0		1	0	0	0	0	0	0	94	311
HIST1H1C	3006	broad.mit.edu	37	6	26056411	26056411	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	82	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542																																						ENST00000343677.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(244-246)ctT>ctC		histone cluster 1, H1c							112.0	117.0	115.0					6																	26056411		2203	4300	6503	SO:0001819	synonymous_variant	3006	0	0					g.chr6:26056411A>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.246T>C	chr6.hg19:g.26056411A>G		0						p.L82L	NM_005319.3	NP_005310.1	0	0	0	1.967613	P16403	H12_HUMAN		1	288	-			A8K4I2	Silent	SNP	ENST00000343677.2	1	1	hg19	c.246T>C	CCDS4577.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	1	0	1		2	2	2	0		0	0	175		175	168	1	2.060000	-20.000000	1	0.170000	NM_005319			172	170		713	694	1		1	1		0	0	175	0		1	1	0	271	0	327	0	172	713
HIST1H1T	3010	broad.mit.edu	37	6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	107	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463																																						ENST00000338379.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(319-321)Ggt>Agt		histone cluster 1, H1t							95.0	94.0	94.0					6																	26108003		2203	4300	6503	SO:0001583	missense	3010	0	0					g.chr6:26108003C>T	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.319G>A	chr6.hg19:g.26108003C>T	ENSP00000341214:p.Gly107Ser	0						p.G107S	NM_005323.3	NP_005314.2	0	0	0	1.967613	P22492	H1T_HUMAN		1	361	-			Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	1	1	hg19	c.319G>A	CCDS34349.1	1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922252	0.73213	.	.	ENSG00000187475	ENST00000338379	T	0.57907	0.37	5.38	5.38	0.77491	5.38	5.38	0.77491	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	-22.0053	18.3099	0.90195	0.0:1.0:0.0:0.0	.	107	P22492	H1T_HUMAN	S	107	ENSP00000341214:G107S	ENSP00000341214:G107S	G	-	1	0	0	HIST1H1T	26215982	26215982	1.000000	0.71417	0.222000	0.23844	0.012000	0.07955	5.912000	0.69948	2.802000	0.96397	0.655000	0.94253	GGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.820574	1	0.170000	NM_005323			89	88		386	384	1		1			0	0	94	0		1	0	0	0	0	0	0	89	386
HIST1H1T	3010	broad.mit.edu	37	6	26108109	26108109	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	71	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522																																						ENST00000338379.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(211-213)gcC>gcT		histone cluster 1, H1t							130.0	117.0	122.0					6																	26108109		2203	4300	6503	SO:0001819	synonymous_variant	3010	0	0					g.chr6:26108109G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.213C>T	chr6.hg19:g.26108109G>A		0						p.A71A	NM_005323.3	NP_005314.2	0	0	0	1.967613	P22492	H1T_HUMAN		1	255	-			Q6ISI1|Q8IUE8	Silent	SNP	ENST00000338379.4	1	1	hg19	c.213C>T	CCDS34349.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.488299	1	0.170000	NM_005323			103	102		378	371	1		1	0		0	0	98	0		1	4.671218e-02	0	0	0	2	0	103	378
HIST1H1E	3008	broad.mit.edu	37	6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A	rs372876447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542																																						ENST00000304218.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999861	0.990000	1.000000																										0				26						c.(565-567)Gcg>Acg		histone cluster 1, H1e		G	THR/ALA	0,4402		0,0,2201	27.0	28.0	27.0		565	5.5	0.9	6		27	1,8595		0,1,4297	no	missense	HIST1H1E	NM_005321.2	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	189/220	26157183	1,12997	2201	4298	6499	SO:0001583	missense	3008	1	121364	29				g.chr6:26157183G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.565G>A	chr6.hg19:g.26157183G>A	ENSP00000307705:p.Ala189Thr	0					HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	p.A189T	NM_005321.2	NP_005312.1	0	0	0	1.967613	P10412	H14_HUMAN		1	625	+			Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	1	1	hg19	c.565G>A	CCDS4586.1	1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658789	0.67586	0.0	1.16E-4	ENSG00000168298	ENST00000304218	T	0.23147	1.92	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.281102	0.33217	N	0.005152	T	0.25754	0.0627	M	0.69523	2.12	0.43230	D	0.995122	P	0.51057	0.941	B	0.43889	0.435	T	0.06041	-1.0849	10	0.51188	T	0.08	-4.8345	18.6997	0.91615	0.0:0.0:1.0:0.0	.	189	P10412	H14_HUMAN	T	189	ENSP00000307705:A189T	ENSP00000307705:A189T	A	+	1	0	0	HIST1H1E	26265162	26265162	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	4.418000	0.59828	2.717000	0.92951	0.655000	0.94253	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_005321			28	28		152	139	1		1	0		0	0	30	0		1	2.612142e-02	0	0	0	2	0	28	152
HIST1H4D	8360	broad.mit.edu	37	6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	9					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)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552																																						ENST00000340756.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999938	0.990000	1.000000																										0				8						c.(25-27)aaG>aaT		histone cluster 1, H4d							54.0	58.0	57.0					6																	26189278		2203	4300	6503	SO:0001583	missense	8360	0	0					g.chr6:26189278C>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.27G>T	chr6.hg19:g.26189278C>A	ENSP00000343282:p.Lys9Asn	0						p.K9N	NM_003539.3	NP_003530.1	0	0	0	1.967613	P62805	H4_HUMAN		1	26	-		all_hematologic(11;0.196)	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	1	1	hg19	c.27G>T	CCDS4589.1	1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363931	0.24684	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	2.23	0.28157	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	.	.	.	0.34101	D	0.66189	.	.	.	.	.	.	T	0.56456	-0.7976	6	0.87932	D	0	.	10.6325	0.45545	0.0:0.8096:0.0:0.1904	.	.	.	.	N	9	.	ENSP00000343282:K9N	K	-	3	2	2	HIST1H4D	26297257	26297257	0.016000	0.18221	0.761000	0.31378	0.007000	0.05969	-0.857000	0.04286	0.127000	0.18452	-0.145000	0.13849	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-2.841675	1	0.170000	NM_003539			63	60		439	435	1		1			0	0	110	0		1	0	0	0	0	0	0	63	439
HIST1H2BF	8343	broad.mit.edu	37	6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	124					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527																																						ENST00000359985.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(370-372)agC>agA		histone cluster 1, H2bf							57.0	62.0	60.0					6																	26200158		2203	4300	6503	SO:0001583	missense	8343	0	0					g.chr6:26200158C>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.372C>A	chr6.hg19:g.26200158C>A	ENSP00000353074:p.Ser124Arg	0					HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	p.S124R	NM_003522.3	NP_003513.1	0	0	0	1.967613	P62807	H2B1C_HUMAN		1	411	+		all_hematologic(11;0.196)	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	1	1	hg19	c.372C>A	CCDS4592.1	1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113885	0.56398	.	.	ENSG00000197846	ENST00000359985	T	0.24538	1.85	3.89	2.08	0.27032	3.89	2.08	0.27032	.	0.000000	0.64402	D	0.000004	T	0.18509	0.0444	.	.	.	0.30597	N	0.760949	.	.	.	.	.	.	T	0.03717	-1.1010	7	0.87932	D	0	.	9.6316	0.39782	0.0:0.8218:0.0:0.1782	.	.	.	.	R	124	ENSP00000353074:S124R	ENSP00000353074:S124R	S	+	3	2	2	HIST1H2BF	26308137	26308137	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.138000	0.42140	0.384000	0.24942	-0.827000	0.03088	AGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_003522			53	52		279	276	1		1	1		0	0	80	0		1	7.078381e-02	0	2	0	1	0	53	279
HIST1H2BG	8339	broad.mit.edu	37	6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	117					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517																																						ENST00000244601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(349-351)Aag>Gag		histone cluster 1, H2bg							99.0	99.0	99.0					6																	26216523		2203	4300	6503	SO:0001583	missense	8339	0	0					g.chr6:26216523T>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.349A>G	chr6.hg19:g.26216523T>C	ENSP00000244601:p.Lys117Glu	0					HIST1H2AE_ENST00000303910.2_5'Flank	p.K117E	NM_003518.3	NP_003509.1	0	0	0	1.967613	P62807	H2B1C_HUMAN		1	349	-		all_hematologic(11;0.196)	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	1	1	hg19	c.349A>G	CCDS4594.1	1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149696	0.37923	.	.	ENSG00000187990	ENST00000244601	T	0.46063	0.88	3.89	3.89	0.44902	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.41143	0.1146	.	.	.	0.34553	D	0.71154	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.59425	D	0.04	.	12.3158	0.54955	0.0:0.0:0.0:1.0	.	.	.	.	E	117	ENSP00000244601:K117E	ENSP00000244601:K117E	K	-	1	0	0	HIST1H2BG	26324502	26324502	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.711000	0.84669	1.762000	0.52044	0.459000	0.35465	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	1	0	0		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_003518			127	123		559	550	1		1	0		0	0	164	0		1	0	0	0	0	1	0	127	559
HIST1H2BG	8339	broad.mit.edu	37	6	26216590	26216590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562																																						ENST00000244601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(280-282)gaG>gaA		histone cluster 1, H2bg							95.0	95.0	95.0					6																	26216590		2203	4300	6503	SO:0001819	synonymous_variant	8339	0	0					g.chr6:26216590C>T	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.282G>A	chr6.hg19:g.26216590C>T		0					HIST1H2AE_ENST00000303910.2_5'Flank	p.E94E	NM_003518.3	NP_003509.1	0	0	0	1.967613	P62807	H2B1C_HUMAN		1	282	-		all_hematologic(11;0.196)	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000244601.3	1	1	hg19	c.282G>A	CCDS4594.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	1	0	0		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_003518			128	123		571	563	0		1	0		0	0	139	0		1	0	0	0	0	1	0	128	571
HIST1H2AE	3012	broad.mit.edu	37	6	26217493	26217493	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	97						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592																																						ENST00000303910.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(289-291)ctT>ctG		histone cluster 1, H2ae							79.0	77.0	78.0					6																	26217493		2203	4300	6503	SO:0001819	synonymous_variant	3012	1	121412	35				g.chr6:26217493T>G	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.291T>G	chr6.hg19:g.26217493T>G		0					HIST1H2BG_ENST00000244601.3_5'Flank	p.L97L	NM_021052.2	NP_066390.1	0	0	0	1.967613	P04908	H2A1B_HUMAN		1	329	+		all_hematologic(11;0.196)	P28001|Q76P63	Silent	SNP	ENST00000303910.2	1	1	hg19	c.291T>G	CCDS4595.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_021052			81	79		352	347	1		1	0		0	0	83	0		1	0	0	0	0	1	0	81	352
HIST1H1D	3007	broad.mit.edu	37	6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A	rs563408211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	193					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15425	0.0		0.0	False		,,,				2504	0.0					ENST00000244534.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(577-579)gCc>gTc		histone cluster 1, H1d							90.0	96.0	94.0					6																	26234584		2203	4300	6503	SO:0001583	missense	3007	2	121412	36				g.chr6:26234584G>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.578C>T	chr6.hg19:g.26234584G>A	ENSP00000244534:p.Ala193Val	0						p.A193V	NM_005320.2	NP_005311.1	0	0	0	1.967613	P16402	H13_HUMAN		1	632	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	1	1	hg19	c.578C>T	CCDS4597.1	1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.110943	0.37242	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.12	4.25	0.50352	5.12	4.25	0.50352	.	0.281601	0.28241	N	0.016063	T	0.02649	0.0080	N	0.08118	0	0.42787	D	0.993885	B	0.06786	0.001	B	0.09377	0.004	T	0.21042	-1.0257	10	0.72032	D	0.01	-16.8507	8.2884	0.31943	0.0797:0.0:0.7667:0.1536	.	193	P16402	H13_HUMAN	V	193	ENSP00000244534:A193V	ENSP00000244534:A193V	A	-	2	0	0	HIST1H1D	26342563	26342563	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	3.916000	0.56416	1.300000	0.44818	0.650000	0.86243	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_005320			128	127		495	485	1		1			0	0	106	0		1	0	0	0	0	0	0	128	495
HIST1H1D	3007	broad.mit.edu	37	6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	157					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552																																						ENST00000244534.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(469-471)Aag>Gag		histone cluster 1, H1d							89.0	95.0	93.0					6																	26234693		2203	4300	6503	SO:0001583	missense	3007	0	0					g.chr6:26234693T>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.469A>G	chr6.hg19:g.26234693T>C	ENSP00000244534:p.Lys157Glu	0						p.K157E	NM_005320.2	NP_005311.1	0	0	0	1.967613	P16402	H13_HUMAN		1	523	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	1	1	hg19	c.469A>G	CCDS4597.1	1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527109	0.44969	.	.	ENSG00000124575	ENST00000244534	T	0.26518	1.73	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.162509	0.52532	D	0.000080	T	0.20700	0.0498	N	0.08118	0	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.33879	-0.9851	10	0.66056	D	0.02	-6.8494	14.5864	0.68328	0.0:0.0:0.0:1.0	.	157	P16402	H13_HUMAN	E	157	ENSP00000244534:K157E	ENSP00000244534:K157E	K	-	1	0	0	HIST1H1D	26342672	26342672	1.000000	0.71417	0.883000	0.34634	0.006000	0.05464	5.885000	0.69736	2.115000	0.64714	0.528000	0.53228	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-20.000000	1	0.170000	NM_005320			116	116		545	537	1		1			0	0	87	0		1	0	0	0	0	0	0	116	545
HIST1H4G	8369	broad.mit.edu	37	6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T	rs202075617	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	26						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552																																						ENST00000244537.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(76-78)aaT>aaA		histone cluster 1, H4g							55.0	51.0	52.0					6																	26247128		2203	4300	6503	SO:0001583	missense	8369	0	0					g.chr6:26247128A>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.78T>A	chr6.hg19:g.26247128A>T	ENSP00000244537:p.Asn26Lys	0						p.N26K	NM_003547.2	NP_003538.1	0	0	0	1.967613	Q99525	H4G_HUMAN		1	131	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)		Missense_Mutation	SNP	ENST00000244537.4	1	1	hg19	c.78T>A	CCDS4599.1	1	.	.	.	.	.	.	.	.	.	.	.	8.463	0.855664	0.17106	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	0.309	0.15820	3.2	0.309	0.15820	Histone-fold (2);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.31287	N	0.689934	P	0.50443	0.935	P	0.53760	0.734	T	0.35051	-0.9804	7	0.87932	D	0	.	10.5532	0.45101	0.1981:0.0:0.8019:0.0	.	26	Q99525	H4G_HUMAN	K	26	.	ENSP00000244537:N26K	N	-	3	2	2	HIST1H4G	26355107	26355107	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	2.112000	0.41892	0.193000	0.20303	-1.877000	0.00547	AAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003547			50	50		205	199	1		1			0	0	50	0		1	0	0	0	0	0	0	50	205
HIST1H2BH	8345	broad.mit.edu	37	6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	43					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)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562																																						ENST00000356350.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(127-129)tAc>tGc		histone cluster 1, H2bh							153.0	138.0	143.0					6																	26252006		2203	4300	6503	SO:0001583	missense	8345	1	121412	35				g.chr6:26252006A>G	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.128A>G	chr6.hg19:g.26252006A>G	ENSP00000348706:p.Tyr43Cys	0					HIST1H3F_ENST00000446824.2_5'Flank	p.Y43C	NM_003524.2	NP_003515.1	0	0	0	1.967613	Q93079	H2B1H_HUMAN		1	128	+			B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	1	1	hg19	c.128A>G	CCDS4601.1	1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396033	0.83011	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.55609	0.1931	H	0.95712	3.71	0.41038	D	0.985201	D	0.89917	1.0	D	0.80764	0.994	T	0.71056	-0.4703	9	0.87932	D	0	.	14.1186	0.65172	1.0:0.0:0.0:0.0	.	43	Q93079	H2B1H_HUMAN	C	43	ENSP00000348706:Y43C	ENSP00000348706:Y43C	Y	+	2	0	0	HIST1H2BH	26359985	26359985	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.981000	0.93465	2.070000	0.61991	0.533000	0.62120	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	1	0	1		2	2	2	0		0	0	177		177	175	1	2.060000	-20.000000	1	0.170000	NM_003524			153	149		706	694	1		1	0		0	0	177	0		1	3.208739e-02	0	0	0	2	0	153	706
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637																																						ENST00000305910.3	0.640000	0.260000	5.400000e-01	3.400000e-01	0.430000	0.446913	0.430000	0.420000																										0				12						c.(127-129)cGt>cAt		histone cluster 1, H3g							50.0	54.0	52.0					6																	26271485		2203	4300	6503	SO:0001583	missense	8355	0	0					g.chr6:26271485C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>A	chr6.hg19:g.26271485C>T	ENSP00000439660:p.Arg43His	0					HIST1H2BI_ENST00000377733.2_5'Flank	p.R43H	NM_003534.2	NP_003525.1	0	0	0	1.967613	P68431	H31_HUMAN		1	127	-			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	1	1	hg19	c.128G>A	CCDS4602.1	0	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442606	0.25987	.	.	ENSG00000256018	ENST00000305910	T	0.50813	0.73	4.56	3.7	0.42460	4.56	3.7	0.42460	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.27360	N	0.955999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.66056	D	0.02	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	H	43	ENSP00000439660:R43H	ENSP00000439660:R43H	R	-	2	0	0	HIST1H3G	26379464	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	1	0	1		2	2	2	0		0	0	110		110	104	1	2.060000	-17.805900	1	0.170000	NM_003534			19	19		492	487	0		1			0	0	110	0		9.999901e-01	0	0	0	0	0	0	19	492
HIST1H2BI	8346	broad.mit.edu	37	6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	87					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602																																						ENST00000377733.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(259-261)Cgc>Tgc		histone cluster 1, H2bi							89.0	89.0	89.0					6																	26273462		2203	4300	6503	SO:0001583	missense	8346	0	0					g.chr6:26273462C>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.259C>T	chr6.hg19:g.26273462C>T	ENSP00000366962:p.Arg87Cys	0					HIST1H3G_ENST00000305910.3_5'Flank	p.R87C	NM_003525.2	NP_003516.1	0	0	0	1.967613	P62807	H2B1C_HUMAN		1	319	+			P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	1	1	hg19	c.259C>T	CCDS4603.1	1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.184707	0.57909	.	.	ENSG00000168242	ENST00000377733	T	0.78003	-1.14	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	D	0.87513	0.6196	M	0.91717	3.235	0.41726	D	0.989538	.	.	.	.	.	.	D	0.89578	0.3818	8	0.51188	T	0.08	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	87	ENSP00000366962:R87C	ENSP00000366962:R87C	R	+	1	0	0	HIST1H2BI	26381441	26381441	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.125000	0.50469	2.058000	0.61347	0.563000	0.77884	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	1	0	1		2	2	2	0		0	0	173		173	169	1	2.060000	-20.000000	1	0.170000	NM_003525			146	145		562	558	1		1			0	0	173	0		1	0	0	0	0	0	0	146	562
BTN3A2	11118	broad.mit.edu	37	6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N	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	155					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512																																						ENST00000356386.2	1.000000	0.920000	1	9.900000e-01	0.990000	0.995878	0.990000	1.000000																										0				10						c.(463-465)aaG>aaT		butyrophilin, subfamily 3, member A2							106.0	95.0	99.0					6																	26370581		2203	4300	6503	SO:0001583	missense	11118	0	0					g.chr6:26370581G>T	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.465G>T	chr6.hg19:g.26370581G>T	ENSP00000348751:p.Lys155Asn	0					BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N	p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	0	0	0	1.967613	P78410	BT3A2_HUMAN		5	653	+			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	1	1	hg19	c.465G>T	CCDS4605.1	1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.198784	0.38806	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13901	2.55;3.28;4.04;4.04;3.89;4.04;4.04;4.45	2.84	-1.73	0.08081	2.84	-1.73	0.08081	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.87381	2.88	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.04078	-1.0979	9	0.72032	D	0.01	.	2.5861	0.04830	0.469:0.0:0.3088:0.2221	.	132;155	F8W6E0;P78410	.;BT3A2_HUMAN	N	113;113;155;155;155;132;155;155;113	ENSP00000435952:K113N;ENSP00000434102:K113N;ENSP00000432138:K155N;ENSP00000348751:K155N;ENSP00000380140:K132N;ENSP00000366937:K155N;ENSP00000380152:K155N;ENSP00000442687:K113N	ENSP00000348751:K155N	K	+	3	2	2	BTN3A2	26478560	26478560	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.233000	0.09041	-0.301000	0.08882	0.405000	0.27470	AAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2	1	0	0		2	2	2	0		0	0	79		79	76	1	2.060000	-2.690411	1	0.170000				36	35		286	278	1		1	1		0	0	79	0		1	9.999296e-01	0	4	0	113	0	36	286
BTN3A2	11118	broad.mit.edu	37	6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D	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	182			A -> T (in dbSNP:rs12205731). {ECO:0000269|PubMed:14702039}.		interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557																																						ENST00000356386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(544-546)gCc>gAc		butyrophilin, subfamily 3, member A2		C	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	132.0	118.0	122.0		545,545,476,419,545	-2.6	0.0	6	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	126,126,126,126,126	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	182/335,182/335,159/312,140/293,182/335	26370661	2,13004	2203	4300	6503	SO:0001583	missense	11118	6	121412	44				g.chr6:26370661C>A	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.545C>A	chr6.hg19:g.26370661C>A	ENSP00000348751:p.Ala182Asp	0					BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D	p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	0	0	0	1.967613	P78410	BT3A2_HUMAN		5	733	+			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	1	1	hg19	c.545C>A	CCDS4605.1	1	.	.	.	.	.	.	.	.	.	.	c	1.724	-0.495838	0.04291	2.27E-4	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.73152	-0.72;3.28;3.28;3.28;3.28;3.28;3.28	2.31	-2.56	0.06268	2.31	-2.56	0.06268	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39118	0.1066	M	0.71036	2.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29336	-1.0015	9	0.42905	T	0.14	.	0.2854	0.00250	0.2052:0.3016:0.2027:0.2904	.	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	D	140;182;182;182;159;182;182;140	ENSP00000435952:A140D;ENSP00000432138:A182D;ENSP00000348751:A182D;ENSP00000380140:A159D;ENSP00000366937:A182D;ENSP00000380152:A182D;ENSP00000442687:A140D	ENSP00000348751:A182D	A	+	2	0	0	BTN3A2	26478640	26478640	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.692000	0.05127	-0.704000	0.05042	0.405000	0.27470	GCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2	1	0	0		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000				74	76		430	420	1		1	1		0	0	117	0		1	9.999976e-01	0	4	0	105	0	74	430
BTN3A1	11119	broad.mit.edu	37	6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	268					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542																																						ENST00000289361.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(802-804)Tac>Cac		butyrophilin, subfamily 3, member A1							67.0	75.0	72.0					6																	26409847		2203	4300	6503	SO:0001583	missense	11119	0	0					g.chr6:26409847T>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.802T>C	chr6.hg19:g.26409847T>C	ENSP00000289361:p.Tyr268His	0					BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H	p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	0	0	0	1.967613	O00481	BT3A1_HUMAN		5	1170	+			A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	1	1	hg19	c.802T>C	CCDS4608.1	1	.	.	.	.	.	.	.	.	.	.	.	8.709	0.911664	0.17833	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.50813	3.81;1.11;3.78;0.73	1.49	1.49	0.22878	1.49	1.49	0.22878	.	.	.	.	.	T	0.40862	0.1134	M	0.77616	2.38	0.09310	N	1	P;D;D;P	0.59767	0.956;0.986;0.986;0.906	P;P;P;B	0.54100	0.459;0.742;0.742;0.36	T	0.14531	-1.0469	9	0.51188	T	0.08	.	5.0923	0.14715	0.0:0.0:0.0:1.0	.	216;268;268;268	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	268;268;268;216	ENSP00000420010:Y268H;ENSP00000289361:Y268H;ENSP00000396684:Y268H;ENSP00000406667:Y216H	ENSP00000289361:Y268H	Y	+	1	0	0	BTN3A1	26517826	26517826	0.002000	0.14202	0.023000	0.16930	0.033000	0.12548	0.778000	0.26732	0.933000	0.37291	0.491000	0.48974	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-20.000000	1	0.170000				99	99		482	469	1		1	1		0	0	124	0		1	1	0	14	0	110	0	99	482
BTN3A1	11119	broad.mit.edu	37	6	26413464	26413464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Silent_p.V310V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502																																						ENST00000289361.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1084-1086)gtG>gtA		butyrophilin, subfamily 3, member A1							133.0	144.0	140.0					6																	26413464		2203	4300	6503	SO:0001819	synonymous_variant	11119	0	0					g.chr6:26413464G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1086G>A	chr6.hg19:g.26413464G>A		0					BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	p.V362V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	0	0	0	1.967613	O00481	BT3A1_HUMAN		10	1454	+			A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	1	1	hg19	c.1086G>A	CCDS4608.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	0	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000				117	114		576	559	1		1	1		0	0	137	0		1	1	0	32	0	136	0	117	576
BTN2A1	11120	broad.mit.edu	37	6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000312541.5	+	3	603	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000429381.1_Nonsense_Mutation_p.E119*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	119	Ig-like V-type.			E -> G (in Ref. 1; AAC02650/AAC02653). {ECO:0000305}.	lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CACAGCCCAGGAAAACGGCAC	0.547																																						ENST00000312541.5	0.780000	0.220000	6.200000e-01	3.200000e-01	0.450000	0.479517	0.450000	0.440000																										0				27						c.(355-357)Gaa>Taa		butyrophilin, subfamily 2, member A1							119.0	90.0	100.0					6																	26459981		2203	4300	6503	SO:0001587	stop_gained	11120	0	0					g.chr6:26459981G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.355G>T	chr6.hg19:g.26459981G>T	ENSP00000312158:p.Glu119*	0					BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000429381.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*	p.E119*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	0	0	0	1.967613	Q7KYR7	BT2A1_HUMAN		3	603	+			B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Nonsense_Mutation	SNP	ENST00000312541.5	0	1	hg19	c.355G>T	CCDS4613.1	0	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046061	0.55110	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.01	2.13	0.27403	3.01	2.13	0.27403	.	0.523957	0.17331	N	0.178112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2759	0.31873	0.1251:0.0:0.8749:0.0	.	.	.	.	X	119;58;58;119;119;119	.	ENSP00000265424:E119X	E	+	1	0	0	BTN2A1	26567960	26567960	0.997000	0.39634	0.004000	0.12327	0.171000	0.22731	5.379000	0.66196	0.843000	0.35070	0.561000	0.74099	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-10.792820	1	0.170000	NM_007049			9	9		225	221	0		1	1		0	0	51	0		9.939066e-01	7.723253e-01	0	4	0	68	0	9	225
BTN1A1	696	broad.mit.edu	37	6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	153	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498																																						ENST00000244513.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				26						c.(457-459)caA>caC		butyrophilin, subfamily 1, member A1							67.0	66.0	67.0					6																	26505184		2203	4300	6503	SO:0001583	missense	696	0	0					g.chr6:26505184A>C	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.459A>C	chr6.hg19:g.26505184A>C	ENSP00000244513:p.Gln153His	0						p.Q153H	NM_001732.2	NP_001723.2	0	0	0	1.967613	Q13410	BT1A1_HUMAN		3	525	+			Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	1	1	hg19	c.459A>C	CCDS4614.1	1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100831	0.37048	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76448	-1.02	5.63	1.89	0.25635	5.63	1.89	0.25635	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.847946	0.10453	N	0.672858	T	0.37128	0.0992	N	0.10760	0.04	0.22034	N	0.999404	B	0.14012	0.009	B	0.17979	0.02	T	0.36720	-0.9736	10	0.66056	D	0.02	.	6.3797	0.21527	0.6791:0.0:0.3209:0.0	.	153	Q13410	BT1A1_HUMAN	H	153	ENSP00000244513:Q153H	ENSP00000244513:Q153H	Q	+	3	2	2	BTN1A1	26613163	26613163	0.312000	0.24545	0.650000	0.29550	0.602000	0.36980	0.457000	0.21875	0.381000	0.24851	0.533000	0.62120	CAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	1	0	1		2	2	2	0		0	0	49		49	50	1	2.060000	-19.999120	1	0.170000	NM_001732			39	38		173	164	1		1			0	0	49	0		1	0	0	0	0	0	0	39	173
BTN1A1	696	broad.mit.edu	37	6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	280						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458																																						ENST00000244513.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(838-840)aGg>aAg		butyrophilin, subfamily 1, member A1							166.0	168.0	167.0					6																	26507040		2203	4300	6503	SO:0001583	missense	696	0	0					g.chr6:26507040G>A	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.839G>A	chr6.hg19:g.26507040G>A	ENSP00000244513:p.Arg280Lys	0						p.R280K	NM_001732.2	NP_001723.2	0	0	0	1.967613	Q13410	BT1A1_HUMAN		4	905	+			Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	1	1	hg19	c.839G>A	CCDS4614.1	1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206364	0.01568	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35605	1.3	5.4	-2.07	0.07276	5.4	-2.07	0.07276	.	0.466636	0.20153	N	0.098120	T	0.02342	0.0072	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	.	5.2949	0.15747	0.4649:0.1578:0.3773:0.0	.	280	Q13410	BT1A1_HUMAN	K	280	ENSP00000244513:R280K	ENSP00000244513:R280K	R	+	2	0	0	BTN1A1	26615019	26615019	0.002000	0.14202	0.008000	0.14137	0.020000	0.10135	0.008000	0.13197	-0.187000	0.10516	-0.290000	0.09829	AGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	0	0	1		16	2	2	1		1	1	215		215	213	1	2.060000	-3.229631	1	0.170000	NM_001732			171	165		816	798	1		1			1	0	215	0		1	0	0	0	0	0	0	171	816
HIST1H2BJ	8970	broad.mit.edu	37	6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	46					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537																																						ENST00000607124.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(136-138)Ctg>Atg		histone cluster 1, H2bj							215.0	204.0	208.0					6																	27100394		2203	4300	6503	SO:0001583	missense	8970	0	0					g.chr6:27100394G>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.136C>A	chr6.hg19:g.27100394G>T	ENSP00000476136:p.Leu46Met	0					HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M|HIST1H2AG_ENST00000359193.2_5'Flank	p.L46M			0	0	0	1.967613	P06899	H2B1J_HUMAN		1	135	-			B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	1	1	hg19	c.136C>A	CCDS4618.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989555	0.35131	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70516	-0.49;-0.49	4.17	2.38	0.29361	4.17	2.38	0.29361	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.79112	0.4391	M	0.92219	3.285	0.42303	D	0.992184	P	0.49783	0.928	P	0.59761	0.863	T	0.80948	-0.1154	9	0.72032	D	0.01	.	8.9091	0.35541	0.1917:0.0:0.8083:0.0	.	46	P06899	H2B1J_HUMAN	M	46	ENSP00000445633:L46M;ENSP00000342886:L46M	ENSP00000342886:L46M	L	-	1	2	2	HIST1H2BJ	27208373	27208373	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	1.451000	0.35145	0.506000	0.28125	-0.914000	0.02751	CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	1	0	1		2	2	2	0		0	0	311		311	310	1	2.060000	-20.000000	1	0.170000	NM_021058			191	186		974	964	1		1	1		0	0	311	0		1	3.879753e-01	0	3	0	5	0	191	974
HIST1H2AH	85235	broad.mit.edu	37	6	27115260	27115260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27115260C>T	ENST00000377459.1	+	1	400	c.353C>T	c.(352-354)cCt>cTt	p.P118L	HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	118						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCTGCTGCCTAAGAAGACT	0.522																																						ENST00000377459.1	0.460000	0.140000	3.700000e-01	2.000000e-01	0.270000	0.291171	0.270000	0.270000																										0				12						c.(352-354)cCt>cTt		histone cluster 1, H2ah							65.0	67.0	67.0					6																	27115260		2203	4300	6503	SO:0001583	missense	85235	0	0					g.chr6:27115260C>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.353C>T	chr6.hg19:g.27115260C>T	ENSP00000366679:p.Pro118Leu	0					HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	p.P118L	NM_080596.1	NP_542163.1	0	0	0	1.967613	Q96KK5	H2A1H_HUMAN		1	400	+				Missense_Mutation	SNP	ENST00000377459.1	0	1	hg19	c.353C>T	CCDS4622.1	0	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366702	0.61513	.	.	ENSG00000184825	ENST00000377459	D	0.90900	-2.75	4.06	4.06	0.47325	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (2);	0.000000	0.40554	N	0.001071	D	0.91300	0.7257	M	0.76170	2.325	0.58432	D	0.999992	D	0.63880	0.993	P	0.52856	0.711	D	0.92532	0.6034	10	0.87932	D	0	.	14.5447	0.68020	0.0:1.0:0.0:0.0	.	118	Q96KK5	H2A1H_HUMAN	L	118	ENSP00000366679:P118L	ENSP00000366679:P118L	P	+	2	0	0	HIST1H2AH	27223239	27223239	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.193000	0.77780	2.201000	0.70794	0.655000	0.94253	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-3.441028	1	0.170000	NM_080596			11	11		459	450	0		1			0	0	116	0		9.981858e-01	0	0	0	0	0	0	11	459
PRSS16	10279	broad.mit.edu	37	6	27218821	27218821	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	198					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(592-594)Ttc>Ctc		protease, serine, 16 (thymus)							64.0	71.0	69.0					6																	27218821		2203	4300	6503	SO:0001630	splice_region_variant	10279	0	0					g.chr6:27218821T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.592-1T>C	chr6.hg19:g.27218821T>C		0					PRSS16_ENST00000421826.2_Intron	p.F198L	NM_005865.3	NP_005856.1	0	0	0	1.967613	Q9NQE7	TSSP_HUMAN		6	607	+			O75416	Splice_Site	SNP	ENST00000230582.3	1	0	hg19	c.592T>C	CCDS4623.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.343518|4.343518	0.82022|0.82022	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.16897|.	2.31|.	3.87|3.87	3.87|3.87	0.44632|0.44632	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	0.163731|.	0.53938|.	D|.	0.000042|.	T|T	0.71005|0.71005	0.3289|0.3289	M|M	0.88979|0.88979	2.995|2.995	0.47862|0.47862	D|D	0.999538|0.999538	D;P|.	0.57257|.	0.979;0.587|.	D;B|.	0.71414|.	0.973;0.333|.	T|T	0.75714|0.75714	-0.3221|-0.3221	9|5	.|.	.|.	.|.	-12.8934|-12.8934	9.3482|9.3482	0.38122|0.38122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;198|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	L|A	198|89	ENSP00000230582:F198L|.	.|.	F|V	+|+	1|2	0|0	0|0	PRSS16|PRSS16	27326800|27326800	27326800|27326800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	1.194000|1.194000	0.32174|0.32174	1.987000|1.987000	0.57996|0.57996	0.460000|0.460000	0.39030|0.39030	TTC|GTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1		2	2	2	0		0	0	120		120	115	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		88	87		485	475	1		1	1		0	0	120	0		1	2.410095e-02	0	2	0	0	0	88	485
PRSS16	10279	broad.mit.edu	37	6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	276					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(826-828)Ggc>Tgc		protease, serine, 16 (thymus)							16.0	21.0	20.0					6																	27219637		2184	4284	6468	SO:0001583	missense	10279	0	0					g.chr6:27219637G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.826G>T	chr6.hg19:g.27219637G>T	ENSP00000230582:p.Gly276Cys	0					PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	p.G276C	NM_005865.3	NP_005856.1	0	0	0	1.967613	Q9NQE7	TSSP_HUMAN		8	841	+			O75416	Missense_Mutation	SNP	ENST00000230582.3	1	1	hg19	c.826G>T	CCDS4623.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000112812	ENST00000230582	T	0.14640	2.49	3.72	0.425	0.16473	3.72	0.425	0.16473	.	0.632610	0.15930	N	0.237713	T	0.04724	0.0128	L	0.39898	1.24	0.09310	N	1	P	0.43542	0.81	P	0.46362	0.514	T	0.25882	-1.0119	10	0.56958	D	0.05	0.5666	2.8425	0.05534	0.284:0.0:0.5066:0.2094	.	276	Q9NQE7	TSSP_HUMAN	C	276	ENSP00000230582:G276C	ENSP00000230582:G276C	G	+	1	0	0	PRSS16	27327616	27327616	0.061000	0.20836	0.006000	0.13384	0.040000	0.13550	0.408000	0.21065	-0.048000	0.13401	-0.244000	0.11960	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000				51	51		221	215	0		1	1		0	0	43	0		1	7.679472e-01	0	8	0	6	0	51	221
PRSS16	10279	broad.mit.edu	37	6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	313					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				26						c.(937-939)gGa>gAa		protease, serine, 16 (thymus)							8.0	9.0	9.0					6																	27219749		2174	4266	6440	SO:0001583	missense	10279	0	0					g.chr6:27219749G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.938G>A	chr6.hg19:g.27219749G>A	ENSP00000230582:p.Gly313Glu	0					PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	p.G313E	NM_005865.3	NP_005856.1	0	0	0	1.967613	Q9NQE7	TSSP_HUMAN		8	953	+			O75416	Missense_Mutation	SNP	ENST00000230582.3	0	1	hg19	c.938G>A	CCDS4623.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661647	0.47572	.	.	ENSG00000112812	ENST00000230582	T	0.12774	2.65	3.18	3.18	0.36537	3.18	3.18	0.36537	.	0.841051	0.10596	N	0.656227	T	0.03178	0.0093	L	0.29908	0.895	0.35506	D	0.800225	B	0.19445	0.036	B	0.18871	0.023	T	0.26258	-1.0108	10	0.07644	T	0.81	-0.0554	10.0977	0.42486	0.0:0.0:1.0:0.0	.	313	Q9NQE7	TSSP_HUMAN	E	313	ENSP00000230582:G313E	ENSP00000230582:G313E	G	+	2	0	0	PRSS16	27327728	27327728	0.995000	0.38212	0.776000	0.31678	0.930000	0.56654	2.556000	0.45862	2.067000	0.61834	0.563000	0.77884	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000				19	19		65	63	1		1	1		0	0	11	0		9.999952e-01	9.989484e-01	0	14	0	29	0	19	65
PRSS16	10279	broad.mit.edu	37	6	27222471	27222472	+	Splice_Site	DNP	GA	GA	TG	rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			|A	|G	|A	|A		Untested|Valid	Somatic	Phase_I	WXS	none|RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471_27222472GA>TG	ENST00000230582.3	+	10	1165_1166	c.1150_1151GA>TG	c.(1150-1152)GAt>TGt	p.D384C	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.D127C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	384					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTGT	0.5																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.e10-1|c.(1150-1152)tAt>tGt		protease, serine, 16 (thymus)																																				SO:0001630	splice_region_variant	10279	0	0					g.chr6:27222471G>T|g.chr6:27222472A>G	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	Exception_encountered	chr6.hg19:g.27222471_27222472delinsTG		0					PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.Y127C	|p.Y384C	NM_005865.3	NP_005856.1	0	0	0	1.967613	Q9NQE7	TSSP_HUMAN		10	1165|1166	+			O75416	Splice_Site	SNP	ENST00000230582.3	1	1|0	hg19	|c.1151A>G	CCDS4623.1	1																									4.68	4.68	0.58851																																												.|0			27330450|27330451														1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.500	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1		2	2	2	0		0	0	143		144|143	143|142	1	2.060000	-3.320630|-20.000000	1	0.170000		Missense_Mutation		97|95	95|93		517|521	501|505	1		1	1		0	0	144|143	0		1	2.552674e-02|9.995235e-01	0	2	0	0|61	0	95	517
PRSS16	10279	broad.mit.edu	37	6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1300-1302)cCt>cTt		protease, serine, 16 (thymus)							95.0	90.0	91.0					6																	27222622		2203	4300	6503	SO:0001583	missense	10279	2	121412	34				g.chr6:27222622C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1301C>T	chr6.hg19:g.27222622C>T	ENSP00000230582:p.Pro434Leu	0					PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	p.P434L	NM_005865.3	NP_005856.1	0	0	0	1.967613	Q9NQE7	TSSP_HUMAN		10	1316	+			O75416	Missense_Mutation	SNP	ENST00000230582.3	1	1	hg19	c.1301C>T	CCDS4623.1	1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004151	0.35320	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14022	2.54;2.54	4.5	3.63	0.41609	4.5	3.63	0.41609	.	0.370207	0.29321	N	0.012485	T	0.09642	0.0237	L	0.56396	1.775	0.24316	N	0.995068	P;D	0.52996	0.906;0.957	P;P	0.56563	0.801;0.705	T	0.09100	-1.0690	10	0.11485	T	0.65	-18.6148	8.5839	0.33646	0.0:0.8941:0.0:0.1059	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	177;434	ENSP00000404349:P177L;ENSP00000230582:P434L	ENSP00000230582:P434L	P	+	2	0	0	PRSS16	27330601	27330601	0.831000	0.29352	0.043000	0.18650	0.185000	0.23345	1.361000	0.34136	1.260000	0.44134	0.557000	0.71058	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1		2	2	2	0		0	0	137		137	134	1	2.060000	-2.928317	1	0.170000				114	112		520	508	1		1	0		0	0	137	0		1	9.999118e-01	0	1	0	62	0	114	520
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						AGAGCAGAGCGATATCTGAAG	0.383																																						ENST00000211936.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2212-2214)Cgc>Tgc		zinc finger protein 184							155.0	153.0	154.0					6																	27419126		2203	4300	6503	SO:0001583	missense	7738	3	121410	37				g.chr6:27419126G>A	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.2212C>T	chr6.hg19:g.27419126G>A	ENSP00000211936:p.Arg738Cys	0					ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	p.R738C	NM_007149.2	NP_009080.2	0	0	0	1.967613	Q99676	ZN184_HUMAN		6	2496	-			B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	1	1	hg19	c.2212C>T	CCDS4624.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840953	0.32513	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	5.18	4.24	0.50183	5.18	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393509	0.19849	N	0.104669	T	0.24198	0.0586	L	0.60904	1.88	0.09310	N	1	B	0.25719	0.132	B	0.14578	0.011	T	0.02698	-1.1122	10	0.35671	T	0.21	.	10.0024	0.41938	0.0:0.0:0.7844:0.2156	.	738	Q99676	ZN184_HUMAN	C	738;738;654	ENSP00000211936:R738C;ENSP00000366636:R738C	ENSP00000211936:R738C	R	-	1	0	0	ZNF184	27527105	27527105	0.000000	0.05858	0.398000	0.26321	0.956000	0.61745	0.775000	0.26689	2.696000	0.92011	0.591000	0.81541	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	0	0	1		14	2	2	1		1	1	181		181	181	1	2.060000	-20.000000	1	0.170000	NM_007149			119	114		588	570	1		1	1		1	0	181	0		1	9.934977e-01	0	15	0	25	0	119	588
ZNF184	7738	broad.mit.edu	37	6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						TTTCTGATGCTGATTAAGGTT	0.383																																						ENST00000211936.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1555-1557)cAg>cGg		zinc finger protein 184							74.0	74.0	74.0					6																	27419782		2203	4299	6502	SO:0001583	missense	7738	0	0					g.chr6:27419782T>C	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.1556A>G	chr6.hg19:g.27419782T>C	ENSP00000211936:p.Gln519Arg	0					ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	p.Q519R	NM_007149.2	NP_009080.2	0	0	0	1.967613	Q99676	ZN184_HUMAN		6	1840	-			B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	1	1	hg19	c.1556A>G	CCDS4624.1	1	.	.	.	.	.	.	.	.	.	.	T	7.067	0.567513	0.13560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07688	3.17;3.17	5.18	3.95	0.45737	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	T	0.01254	0.0041	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.48445	-0.9035	10	0.15952	T	0.53	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	519	Q99676	ZN184_HUMAN	R	519	ENSP00000211936:Q519R;ENSP00000366636:Q519R	ENSP00000211936:Q519R	Q	-	2	0	0	ZNF184	27527761	27527761	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.950000	0.01530	2.176000	0.68965	0.482000	0.46254	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_007149			53	53		274	269	1		1	1		0	0	52	0		1	9.753951e-01	0	10	0	23	0	53	274
ZNF184	7738	broad.mit.edu	37	6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						CCTTTCCACATTCATTACATT	0.378																																						ENST00000211936.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1180-1182)gaA>gaC		zinc finger protein 184							55.0	57.0	56.0					6																	27420156		2203	4300	6503	SO:0001583	missense	7738	0	0					g.chr6:27420156T>G	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.1182A>C	chr6.hg19:g.27420156T>G	ENSP00000211936:p.Glu394Asp	0					ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	p.E394D	NM_007149.2	NP_009080.2	0	0	0	1.967613	Q99676	ZN184_HUMAN		6	1466	-			B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	1	1	hg19	c.1182A>C	CCDS4624.1	1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820190	0.50633	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18338	2.22;2.22	5.26	0.0295	0.14163	5.26	0.0295	0.14163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000104	T	0.03783	0.0107	L	0.39326	1.205	0.25791	N	0.984612	B	0.19200	0.034	B	0.20767	0.031	T	0.36212	-0.9757	10	0.40728	T	0.16	.	4.1982	0.10453	0.1421:0.2472:0.0:0.6107	.	394	Q99676	ZN184_HUMAN	D	394	ENSP00000211936:E394D;ENSP00000366636:E394D	ENSP00000211936:E394D	E	-	3	2	2	ZNF184	27528135	27528135	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-3.957000	0.00325	0.150000	0.19136	0.528000	0.53228	GAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_007149			60	59		226	216	1		1	1		0	0	53	0		1	9.275002e-01	0	7	0	12	0	60	226
ZNF184	7738	broad.mit.edu	37	6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						TCTCTGATGGCGAATAAGAGC	0.353																																						ENST00000211936.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(715-717)cGc>cAc		zinc finger protein 184							140.0	143.0	142.0					6																	27420622		2203	4300	6503	SO:0001583	missense	7738	2	121412	35				g.chr6:27420622C>T	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.716G>A	chr6.hg19:g.27420622C>T	ENSP00000211936:p.Arg239His	0					ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	p.R239H	NM_007149.2	NP_009080.2	0	0	0	1.967613	Q99676	ZN184_HUMAN		6	1000	-			B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	1	1	hg19	c.716G>A	CCDS4624.1	1	.	.	.	.	.	.	.	.	.	.	C	7.985	0.751986	0.15778	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26810	1.71;1.71	5.12	2.22	0.28083	5.12	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135982	0.34580	N	0.003854	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	P	0.36660	0.564	B	0.22152	0.038	T	0.23440	-1.0188	10	0.14252	T	0.57	.	3.5921	0.07993	0.163:0.433:0.3152:0.0888	.	239	Q99676	ZN184_HUMAN	H	239	ENSP00000211936:R239H;ENSP00000366636:R239H	ENSP00000211936:R239H	R	-	2	0	0	ZNF184	27528601	27528601	0.000000	0.05858	0.999000	0.59377	0.021000	0.10359	-1.898000	0.01602	1.366000	0.46076	-0.315000	0.08773	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_007149			170	165		719	703	1		1	1		0	0	146	0		1	9.698988e-01	0	6	0	20	0	170	719
ZNF184	7738	broad.mit.edu	37	6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	46	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)			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						CTGGCCAGGGTCCAGCTGTTT	0.413																																						ENST00000211936.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(136-138)gAc>gGc		zinc finger protein 184							125.0	123.0	124.0					6																	27425127		2203	4300	6503	SO:0001583	missense	7738	0	0					g.chr6:27425127T>C	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.137A>G	chr6.hg19:g.27425127T>C	ENSP00000211936:p.Asp46Gly	0					ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	p.D46G	NM_007149.2	NP_009080.2	0	0	0	1.967613	Q99676	ZN184_HUMAN		4	421	-			B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	1	1	hg19	c.137A>G	CCDS4624.1	1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044500	0.55110	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.02606	4.23;4.23	4.69	3.5	0.40072	4.69	3.5	0.40072	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.01627	0.0052	M	0.62209	1.925	0.37121	D	0.900818	B	0.15141	0.012	B	0.20577	0.03	T	0.34279	-0.9835	10	0.37606	T	0.19	.	9.0704	0.36488	0.1703:0.0:0.0:0.8297	.	46	Q99676	ZN184_HUMAN	G	46	ENSP00000211936:D46G;ENSP00000366636:D46G	ENSP00000211936:D46G	D	-	2	0	0	ZNF184	27533106	27533106	0.981000	0.34729	0.984000	0.44739	0.993000	0.82548	2.128000	0.42045	1.079000	0.41038	0.533000	0.62120	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-20.000000	1	0.170000	NM_007149			110	109		430	419	1		1	1		0	0	114	0		1	9.987185e-01	0	13	0	28	0	110	430
HIST1H1B	3009	broad.mit.edu	37	6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	103	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607																																						ENST00000331442.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(307-309)gGt>gAt		histone cluster 1, H1b							120.0	133.0	128.0					6																	27835000		2203	4300	6503	SO:0001583	missense	3009	0	0					g.chr6:27835000C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.308G>A	chr6.hg19:g.27835000C>T	ENSP00000330074:p.Gly103Asp	0						p.G103D	NM_005322.2	NP_005313.1	0	0	0	1.967613	P16401	H15_HUMAN		1	359	-			Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	1	1	hg19	c.308G>A	CCDS4635.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759127	0.89843	.	.	ENSG00000184357	ENST00000331442	T	0.74106	-0.81	5.3	5.3	0.74995	5.3	5.3	0.74995	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	-16.8992	18.3308	0.90268	0.0:1.0:0.0:0.0	.	103	P16401	H15_HUMAN	D	103	ENSP00000330074:G103D	ENSP00000330074:G103D	G	-	2	0	0	HIST1H1B	27942979	27942979	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	4.681000	0.61663	2.648000	0.89879	0.563000	0.77884	GGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	1	0	1		2	2	2	0		0	0	199		199	198	1	2.060000	-20.000000	1	0.170000	NM_005322			186	185		953	940	1		1			0	0	199	0		1	0	0	0	0	0	0	186	953
HIST1H3J	8356	broad.mit.edu	37	6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562																																						ENST00000359303.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.992971	0.990000	1.000000																										0				8						c.(244-246)Gac>Aac		histone cluster 1, H3j							58.0	59.0	58.0					6																	27858327		2203	4300	6503	SO:0001583	missense	8356	0	0					g.chr6:27858327C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.244G>A	chr6.hg19:g.27858327C>T	ENSP00000352252:p.Asp82Asn	0					HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	p.D82N	NM_003535.2	NP_003526.1	0	0	0	1.967613	P68431	H31_HUMAN		1	243	-			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	1	1	hg19	c.244G>A	CCDS4638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802455	0.50315	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	3.96	3.96	0.45880	3.96	3.96	0.45880	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	T	0.62473	-0.6847	6	0.87932	D	0	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000352252:D82N	ENSP00000352252:D82N	D	-	1	0	0	HIST1H3J	27966306	27966306	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.304000	0.78882	2.503000	0.84419	0.655000	0.94253	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	0	0	1		15	2	2	1		1	1	94		94	94	1	2.060000	-3.318794	1	0.170000	NM_003535			41	41		349	345	1		1			1	0	94	0		9.999133e-01	0	0	0	0	0	0	41	349
HIST1H3J	8356	broad.mit.edu	37	6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000359303.2	-	1	37	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	13					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597																																						ENST00000359303.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.992652	0.990000	1.000000																										0				8						c.(37-39)gGc>gAc		histone cluster 1, H3j							30.0	33.0	32.0					6																	27858533		2192	4287	6479	SO:0001583	missense	8356	0	0					g.chr6:27858533C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.38G>A	chr6.hg19:g.27858533C>T	ENSP00000352252:p.Gly13Asp	0					HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	p.G13D	NM_003535.2	NP_003526.1	0	0	0	1.967613	P68431	H31_HUMAN		1	37	-			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	1	1	hg19	c.38G>A	CCDS4638.1	1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141759	0.37825	.	.	ENSG00000197153	ENST00000359303	T	0.46063	0.88	4.06	4.06	0.47325	4.06	4.06	0.47325	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.56080	-0.8038	6	0.66056	D	0.02	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	D	13	ENSP00000352252:G13D	ENSP00000352252:G13D	G	-	2	0	0	HIST1H3J	27966512	27966512	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.290000	0.78711	2.560000	0.86352	0.655000	0.94253	GGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_003535			37	36		311	303	1		1			0	0	54	0		1	0	0	0	0	0	0	37	311
OR2B2	81697	broad.mit.edu	37	6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, 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)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363																																						ENST00000303324.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(925-927)Ctt>Att		olfactory receptor, family 2, subfamily B, member 2							82.0	83.0	83.0					6																	27879173		2203	4300	6503	SO:0001583	missense	81697	0	0					g.chr6:27879173G>T	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.925C>A	chr6.hg19:g.27879173G>T	ENSP00000304419:p.Leu309Ile	0						p.L309I	NM_033057.2	NP_149046.2	0	0	0	1.967613	Q9GZK3	OR2B2_HUMAN		1	1001	-			B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	1	1	hg19	c.925C>A	CCDS4641.1	1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231361	0.09969	.	.	ENSG00000168131	ENST00000303324	T	0.38240	1.15	3.18	1.2	0.21068	3.18	1.2	0.21068	.	0.886778	0.09250	N	0.827978	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.22706	T	0.39	.	4.9859	0.14189	0.325:0.0:0.675:0.0	.	309	Q9GZK3	OR2B2_HUMAN	I	309	ENSP00000304419:L309I	ENSP00000304419:L309I	L	-	1	0	0	OR2B2	27987152	27987152	0.017000	0.18338	0.012000	0.15200	0.134000	0.20937	-0.115000	0.10741	0.285000	0.22329	0.313000	0.20887	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				61	61		282	276	1		1			0	0	67	0		1	0	0	0	0	0	0	61	282
OR2B2	81697	broad.mit.edu	37	6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453																																						ENST00000303324.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(253-255)Ata>Gta		olfactory receptor, family 2, subfamily B, member 2							166.0	142.0	150.0					6																	27879845		2203	4300	6503	SO:0001583	missense	81697	0	0					g.chr6:27879845T>C	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.253A>G	chr6.hg19:g.27879845T>C	ENSP00000304419:p.Ile85Val	0						p.I85V	NM_033057.2	NP_149046.2	0	0	0	1.967613	Q9GZK3	OR2B2_HUMAN		1	329	-			B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	1	1	hg19	c.253A>G	CCDS4641.1	1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160103	0.06502	.	.	ENSG00000168131	ENST00000303324	T	0.00392	7.58	4.52	1.89	0.25635	4.52	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.173808	0.26485	U	0.024112	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	B	0.28378	0.209	B	0.26770	0.073	T	0.40961	-0.9535	10	0.87932	D	0	.	5.3596	0.16081	0.1691:0.0:0.3501:0.4808	.	85	Q9GZK3	OR2B2_HUMAN	V	85	ENSP00000304419:I85V	ENSP00000304419:I85V	I	-	1	0	0	OR2B2	27987824	27987824	0.000000	0.05858	0.262000	0.24481	0.015000	0.08874	-2.156000	0.01283	0.821000	0.34540	-0.374000	0.07098	ATA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				63	62		271	268	1		1			0	0	57	0		1	0	0	0	0	0	0	63	271
OR2B6	26212	broad.mit.edu	37	6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488																																						ENST00000244623.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(511-513)cCc>cTc		olfactory receptor, family 2, subfamily B, member 6							139.0	142.0	141.0					6																	27925530		2203	4300	6503	SO:0001583	missense	26212	0	0					g.chr6:27925530C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.512C>T	chr6.hg19:g.27925530C>T	ENSP00000244623:p.Pro171Leu	0						p.P171L	NM_012367.1	NP_036499.1	0	0	0	1.967613	P58173	OR2B6_HUMAN		1	512	+			O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	1	1	hg19	c.512C>T	CCDS4642.1	1	.	.	.	.	.	.	.	.	.	.	c	6.560	0.471641	0.12461	.	.	ENSG00000124657	ENST00000244623	T	0.38077	1.16	3.55	-0.147	0.13428	3.55	-0.147	0.13428	GPCR, rhodopsin-like superfamily (1);	1.407500	0.05586	U	0.573708	T	0.16599	0.0399	L	0.49256	1.55	0.09310	N	1	B	0.24317	0.101	B	0.32022	0.139	T	0.46652	-0.9176	10	0.56958	D	0.05	.	6.294	0.21075	0.4238:0.429:0.1471:0.0	.	171	P58173	OR2B6_HUMAN	L	171	ENSP00000244623:P171L	ENSP00000244623:P171L	P	+	2	0	0	OR2B6	28033509	28033509	0.000000	0.05858	0.105000	0.21289	0.254000	0.26022	-2.067000	0.01383	0.153000	0.19213	0.467000	0.42956	CCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1	1	0	1		2	2	2	0		0	0	134		134	131	1	2.060000	-3.142717	1	0.170000				99	92		600	582	1		1			0	0	134	0		1	0	0	0	0	0	0	99	600
ZNF165	7718	broad.mit.edu	37	6	28053579	28053579	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527																																						ENST00000377325.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(319-321)gcC>gcA		zinc finger protein 165							62.0	62.0	62.0					6																	28053579		2203	4300	6503	SO:0001819	synonymous_variant	7718	0	0					g.chr6:28053579C>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.321C>A	chr6.hg19:g.28053579C>A		0						p.A107A	NM_003447.3	NP_003438.1	0	0	0	1.967613	P49910	ZN165_HUMAN		2	877	+				Silent	SNP	ENST00000377325.1	1	1	hg19	c.321C>A	CCDS4643.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_003447			55	52		223	219	1		1	1		0	0	70	0		1	9.771623e-01	0	12	0	15	0	55	223
ZSCAN16	80345	broad.mit.edu	37	6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527																																						ENST00000340487.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(124-126)Caa>Taa		zinc finger and SCAN domain containing 16							218.0	222.0	221.0					6																	28093345		2203	4300	6503	SO:0001587	stop_gained	80345	0	0					g.chr6:28093345C>T	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.124C>T	chr6.hg19:g.28093345C>T	ENSP00000366527:p.Gln42*	0					ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	p.Q42*	NM_025231.1	NP_079507.1	0	0	0	1.967613	Q9H4T2	ZSC16_HUMAN		2	273	+			Q9H6K2	Nonsense_Mutation	SNP	ENST00000340487.4	0	1	hg19	c.124C>T	CCDS4644.1	1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550547	0.45383	.	.	ENSG00000196812	ENST00000340487	.	.	.	3.66	2.75	0.32379	3.66	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.7442	0.40437	0.3728:0.6272:0.0:0.0	.	.	.	.	X	42	.	ENSP00000366527:Q42X	Q	+	1	0	0	ZSCAN16	28201324	28201324	0.006000	0.16342	0.212000	0.23672	0.281000	0.26958	1.399000	0.34566	0.828000	0.34709	0.557000	0.71058	CAA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	1	0	1		2	2	2	0		0	0	350		350	347	1	2.060000	-20.000000	1	0.170000	NM_025231			215	209		1169	1149	1		1	1		0	0	350	0		1	8.590067e-01	0	3	0	18	0	215	1169
ZKSCAN4	387032	broad.mit.edu	37	6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	485					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443																																						ENST00000377294.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.992073	0.990000	1.000000																										0				18						c.(1453-1455)gTg>gCg		zinc finger with KRAB and SCAN domains 4							121.0	126.0	124.0					6																	28213078		2203	4300	6503	SO:0001583	missense	387032	0	0					g.chr6:28213078A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1454T>C	chr6.hg19:g.28213078A>G	ENSP00000366509:p.Val485Ala	0					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	p.V485A	NM_019110.3	NP_061983.2	0	0	0	1.967613	Q969J2	ZKSC4_HUMAN		5	1697	-			B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	1	1	hg19	c.1454T>C	CCDS4647.1	1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698511	0.15106	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05649	3.51;3.41	5.06	-2.27	0.06846	5.06	-2.27	0.06846	.	.	.	.	.	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B	0.27791	0.189	B	0.25140	0.058	T	0.47005	-0.9150	9	0.87932	D	0	.	3.3464	0.07137	0.3562:0.0:0.1784:0.4654	.	485	Q969J2	ZKSC4_HUMAN	A	485;330	ENSP00000366509:V485A;ENSP00000401978:V330A	ENSP00000366509:V485A	V	-	2	0	0	ZKSCAN4	28321057	28321057	0.992000	0.36948	0.001000	0.08648	0.168000	0.22595	-0.265000	0.08644	-0.124000	0.11724	-0.250000	0.11733	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-18.624140	1	0.170000	NM_019110			61	61		553	548	1		1	1		0	0	118	0		1	3.810107e-01	0	2	0	11	0	61	553
ZKSCAN4	387032	broad.mit.edu	37	6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	425					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473																																						ENST00000377294.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1273-1275)Att>Gtt		zinc finger with KRAB and SCAN domains 4							77.0	78.0	78.0					6																	28213259		2203	4300	6503	SO:0001583	missense	387032	0	0					g.chr6:28213259T>C	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1273A>G	chr6.hg19:g.28213259T>C	ENSP00000366509:p.Ile425Val	0					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	p.I425V	NM_019110.3	NP_061983.2	0	0	0	1.967613	Q969J2	ZKSC4_HUMAN		5	1516	-			B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	1	1	hg19	c.1273A>G	CCDS4647.1	1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763298	0.69763	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.00986	5.47;5.47	5.52	5.52	0.82312	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.33137	0.985	0.25935	N	0.982941	D	0.63880	0.993	D	0.76071	0.987	T	0.56860	-0.7909	9	0.49607	T	0.09	.	14.9164	0.70801	0.0:0.0:0.0:1.0	.	425	Q969J2	ZKSC4_HUMAN	V	425;270;131;301	ENSP00000366509:I425V;ENSP00000401978:I270V	ENSP00000349249:I301V	I	-	1	0	0	ZKSCAN4	28321238	28321238	0.001000	0.12720	1.000000	0.80357	0.856000	0.48823	1.094000	0.30951	2.212000	0.71576	0.533000	0.62120	ATT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_019110			93	92		344	336	1		1	1		0	0	86	0		1	9.682359e-01	0	2	0	21	0	93	344
ZKSCAN4	387032	broad.mit.edu	37	6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	344					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458																																						ENST00000377294.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1030-1032)gGt>gAt		zinc finger with KRAB and SCAN domains 4							123.0	111.0	115.0					6																	28213501		2203	4300	6503	SO:0001583	missense	387032	1	121412	30				g.chr6:28213501C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1031G>A	chr6.hg19:g.28213501C>T	ENSP00000366509:p.Gly344Asp	0					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	p.G344D	NM_019110.3	NP_061983.2	0	0	0	1.967613	Q969J2	ZKSC4_HUMAN		5	1274	-			B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	1	1	hg19	c.1031G>A	CCDS4647.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958964	0.74016	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.01599	4.74;4.74	5.1	5.1	0.69264	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.73753	2.245	0.49915	D	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	17.6454	0.88147	0.0:1.0:0.0:0.0	.	344	Q969J2	ZKSC4_HUMAN	D	344;189;50;220	ENSP00000366509:G344D;ENSP00000401978:G189D	ENSP00000349249:G220D	G	-	2	0	0	ZKSCAN4	28321480	28321480	0.969000	0.33509	0.438000	0.26821	0.499000	0.33736	4.030000	0.57260	2.522000	0.85027	0.655000	0.94253	GGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_019110			79	76		319	313	1		1	1		0	0	77	0		1	9.784164e-01	0	2	0	25	0	79	319
ZKSCAN4	387032	broad.mit.edu	37	6	28219397	28219397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	ENST00000377294.2	-	1	605	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACCTCCTCCCCGCTCTCTGG	0.597																																						ENST00000377294.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(361-363)gGg>gTg		zinc finger with KRAB and SCAN domains 4							27.0	30.0	29.0					6																	28219397		2202	4278	6480	SO:0001583	missense	387032	0	0					g.chr6:28219397C>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.362G>T	chr6.hg19:g.28219397C>A	ENSP00000366509:p.Gly121Val	0					ZKSCAN4_ENST00000423974.2_Intron	p.G121V	NM_019110.3	NP_061983.2	0	0	0	1.967613	Q969J2	ZKSC4_HUMAN		1	605	-			B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	0	1	hg19	c.362G>T	CCDS4647.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477769	0.84640	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.05025	3.51	4.45	4.45	0.53987	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.23451	0.0567	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08330	-1.0727	9	0.62326	D	0.03	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	121	Q969J2	ZKSC4_HUMAN	V	121;69	ENSP00000366509:G121V	ENSP00000349249:G69V	G	-	2	0	0	ZKSCAN4	28327376	28327376	0.940000	0.31905	1.000000	0.80357	0.981000	0.71138	2.649000	0.46656	2.388000	0.81334	0.655000	0.94253	GGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	0	0	1		2	2	2	0		0	0	75		75	105	1	2.060000	-20.000000	1	0.170000	NM_019110			59	51		207	182	0		1	1		0	0	75	0		1	4.861766e-01	0	2	0	5	0	59	207
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										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						GAATTGGGAGCGCCTGAAGTG	0.537																																						ENST00000343684.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(397-399)gCg>gTg		NFKB activating protein-like							99.0	106.0	104.0					6																	28227547		2203	4300	6503	SO:0001583	missense	222698	2	121412	36				g.chr6:28227547C>T	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.398C>T	chr6.hg19:g.28227547C>T	ENSP00000345716:p.Ala133Val	0					ZKSCAN4_ENST00000423974.2_5'Flank	p.A133V	NM_001007531.1	NP_001007532.1	0	0	0	1.967613	Q5M9Q1	NKAPL_HUMAN		1	450	+			Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	1	1	hg19	c.398C>T	CCDS34353.1	1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	0	NKAPL	28335526	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	1	0	0		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000				101	97		663	637	1		1	0		0	0	169	0		1	4.856147e-02	0	0	0	3	0	101	663
NKAPL	222698	broad.mit.edu	37	6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	369										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						GAAGAGAGCTCTTGCATCCTT	0.443																																						ENST00000343684.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1105-1107)Ctt>Att		NFKB activating protein-like							154.0	142.0	146.0					6																	28228254		2203	4300	6503	SO:0001583	missense	222698	0	0					g.chr6:28228254C>A	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.1105C>A	chr6.hg19:g.28228254C>A	ENSP00000345716:p.Leu369Ile	0					ZKSCAN4_ENST00000423974.2_5'Flank	p.L369I	NM_001007531.1	NP_001007532.1	0	0	0	1.967613	Q5M9Q1	NKAPL_HUMAN		1	1157	+			Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	1	1	hg19	c.1105C>A	CCDS34353.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645815	0.87958	.	.	ENSG00000189134	ENST00000343684	T	0.23754	1.89	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33189	-0.9878	10	0.59425	D	0.04	-9.0374	15.3886	0.74723	0.0:1.0:0.0:0.0	.	369	Q5M9Q1	NKAPL_HUMAN	I	369	ENSP00000345716:L369I	ENSP00000345716:L369I	L	+	1	0	0	NKAPL	28336233	28336233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.563000	0.86464	0.655000	0.94253	CTT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.432798	1	0.170000				78	77		344	335	1		1	0		0	0	90	0		1	9.187913e-02	0	0	0	3	0	78	344
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398																																						ENST00000405948.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1411-1413)aGg>aAg		piggyBac transposable element derived 1							168.0	166.0	167.0					6																	28269043		2203	4300	6503	SO:0001583	missense	84547	0	0					g.chr6:28269043G>A	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.1412G>A	chr6.hg19:g.28269043G>A	ENSP00000385213:p.Arg471Lys	0					PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	0	0	0	1.967613	Q96JS3	PGBD1_HUMAN		7	1832	+			Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	1	1	hg19	c.1412G>A	CCDS4648.1	1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757490	0.03019	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17370	2.28;2.28	4.66	2.85	0.33270	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.02494	0.0076	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.46498	-0.9187	10	0.02654	T	1	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	K	471	ENSP00000385213:R471K;ENSP00000259883:R471K	ENSP00000259883:R471K	R	+	2	0	0	PGBD1	28377022	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	1	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-20.000000	1	0.170000				127	125		649	634	1		1	1		0	0	157	0		1	6.934368e-01	0	3	0	11	0	127	649
PGBD1	84547	broad.mit.edu	37	6	28269797	28269797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	722						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413																																						ENST00000405948.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2164-2166)caG>caA		piggyBac transposable element derived 1							138.0	132.0	134.0					6																	28269797		2203	4300	6503	SO:0001819	synonymous_variant	84547	0	0					g.chr6:28269797G>A	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.2166G>A	chr6.hg19:g.28269797G>A		0					PGBD1_ENST00000259883.3_Silent_p.Q722Q	p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	0	0	0	1.967613	Q96JS3	PGBD1_HUMAN		7	2586	+			Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	1	1	hg19	c.2166G>A	CCDS4648.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000				77	77		405	397	1		1	0		0	0	77	0		1	2.504586e-01	0	1	0	5	0	77	405
GPX6	257202	broad.mit.edu	37	6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512																																						ENST00000474923.1	0.710000	0.210000	5.700000e-01	3.100000e-01	0.420000	0.446334	0.420000	0.410000																										0				19						c.(427-429)tCc>tTc		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						66.0	66.0	66.0					6																	28472207		1888	4128	6016	SO:0001583	missense	257202	0	0					g.chr6:28472207G>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.428C>T	chr6.hg19:g.28472207G>A	ENSP00000417364:p.Ser143Phe	0					GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V176V	p.S143F			0	0	0	1.967613	P59796	GPX6_HUMAN		4	471	-			Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	1	1	hg19	c.428C>T		0	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494134	0.44352	.	.	ENSG00000198704	ENST00000474923	T	0.13307	2.6	4.31	1.47	0.22746	4.31	1.47	0.22746	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05903	-1.0857	6	0.72032	D	0.01	.	5.873	0.18814	0.1769:0.0:0.6685:0.1546	.	.	.	.	F	143	ENSP00000417364:S143F	ENSP00000417364:S143F	S	-	2	0	0	GPX6	28580186	28580186	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	1.669000	0.37492	0.300000	0.22699	0.591000	0.81541	TCC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5	0	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-11.259870	1	0.170000				10	10		268	263	0		1			0	0	63	0		9.967382e-01	0	0	0	0	0	0	10	268
GPX5	2880	broad.mit.edu	37	6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	44					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433																																						ENST00000412168.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				16						c.(130-132)gaG>gaT		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						171.0	141.0	151.0					6																	28497272		2203	4300	6503	SO:0001583	missense	2880	0	0					g.chr6:28497272G>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.132G>T	chr6.hg19:g.28497272G>T	ENSP00000392398:p.Glu44Asp	0					GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank	p.E44D	NM_001509.2	NP_001500.1	0	0	0	1.967613	O75715	GPX5_HUMAN		2	221	+			A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	1	1	hg19	c.132G>T	CCDS4652.1	1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868061	0.02590	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03982	3.74;3.74	3.65	-5.39	0.02664	3.65	-5.39	0.02664	Thioredoxin-like fold (2);	1.372440	0.04755	N	0.425323	T	0.01558	0.0050	M	0.65975	2.015	0.18873	N	0.999986	B;B	0.18863	0.031;0.0	B;B	0.17098	0.017;0.001	T	0.44205	-0.9343	10	0.40728	T	0.16	-0.7799	1.8104	0.03089	0.1694:0.1208:0.2565:0.4533	.	44;44	A1A4Y0;O75715	.;GPX5_HUMAN	D	44	ENSP00000392398:E44D;ENSP00000419935:E44D	ENSP00000392398:E44D	E	+	3	2	2	GPX5	28605251	28605251	0.148000	0.22702	0.001000	0.08648	0.292000	0.27327	-0.894000	0.04123	-1.342000	0.02222	-0.182000	0.12963	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-3.232466	1	0.170000				41	41		229	226	1		1			0	0	79	0		1	0	0	0	0	0	0	41	229
GPX5	2880	broad.mit.edu	37	6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512																																						ENST00000412168.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(589-591)cGc>cAc		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						88.0	88.0	88.0					6																	28501868		2203	4300	6503	SO:0001583	missense	2880	2	121412	36				g.chr6:28501868G>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.590G>A	chr6.hg19:g.28501868G>A	ENSP00000392398:p.Arg197His	0					GPX5_ENST00000442674.2_3'UTR	p.R197H	NM_001509.2	NP_001500.1	0	0	0	1.967613	O75715	GPX5_HUMAN		5	679	+			A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	1	1	hg19	c.590G>A	CCDS4652.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.152846	0.94645	.	.	ENSG00000224586	ENST00000412168	T	0.04917	3.53	4.52	4.52	0.55395	4.52	4.52	0.55395	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.02560	-1.1141	10	0.66056	D	0.02	-11.5047	15.5724	0.76349	0.0:0.0:1.0:0.0	.	197	O75715	GPX5_HUMAN	H	197	ENSP00000392398:R197H	ENSP00000392398:R197H	R	+	2	0	0	GPX5	28609847	28609847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.365000	0.73090	2.793000	0.96121	0.655000	0.94253	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.234327	1	0.170000				84	83		422	417	1		1			0	0	77	0		1	0	0	0	0	0	0	84	422
ZBED9	114821	broad.mit.edu	37	6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1														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						ttgccttgcagaaacactaag	0.378																																						ENST00000452236.2	0.750000	0.330000	6.400000e-01	4.100000e-01	0.520000	0.533804	0.520000	0.510000																										0				71						c.(3244-3246)Ctg>Atg									67.0	67.0	67.0					6																	28540422		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr6:28540422G>T																												ENST00000452236.2:c.3244C>A	chr6.hg19:g.28540422G>T	ENSP00000395259:p.Leu1082Met	0						p.L1082M	NM_052923.1	NP_443155.1	0	0	0	1.967613				4	3861	-				Missense_Mutation	SNP	ENST00000452236.2	1	1	hg19	c.3244C>A	CCDS34355.1	0	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898401	0.33535	.	.	ENSG00000232040	ENST00000452236	T	0.40225	1.04	2.14	2.14	0.27477	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.546150	0.12347	N	0.476966	T	0.42832	0.1220	M	0.62154	1.92	0.24564	N	0.993958	D	0.58970	0.984	D	0.70487	0.969	T	0.07966	-1.0745	10	0.45353	T	0.12	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1082	Q6R2W3	SCND3_HUMAN	M	1082	ENSP00000395259:L1082M	ENSP00000395259:L1082M	L	-	1	2	2	SCAND3	28648401	28648401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	1.507000	0.48752	0.561000	0.74099	CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.224437	1	0.170000				21	21		449	444	0		1	0		0	0	71	0		9.999974e-01	6.569855e-03	0	0	0	3	0	21	449
ZBED9	114821	broad.mit.edu	37	6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														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						gcccgcaaagcactaatgttt	0.373																																						ENST00000452236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2455-2457)Gct>Act									118.0	113.0	115.0					6																	28541211		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr6:28541211C>T																												ENST00000452236.2:c.2455G>A	chr6.hg19:g.28541211C>T	ENSP00000395259:p.Ala819Thr	0					SCAND3_ENST00000530247.1_5'Flank	p.A819T	NM_052923.1	NP_443155.1	0	0	0	1.967613				4	3072	-				Missense_Mutation	SNP	ENST00000452236.2	1	1	hg19	c.2455G>A	CCDS34355.1	1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213948	0.58452	.	.	ENSG00000232040	ENST00000452236	T	0.01685	4.69	2.27	2.27	0.28462	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000035	T	0.02380	0.0073	L	0.52011	1.625	0.26505	N	0.974691	D	0.57571	0.98	D	0.72338	0.977	T	0.43893	-0.9363	10	0.49607	T	0.09	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	819	Q6R2W3	SCND3_HUMAN	T	819	ENSP00000395259:A819T	ENSP00000395259:A819T	A	-	1	0	0	SCAND3	28649190	28649190	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000				109	107		476	463	1		1	0		0	0	109	0		1	1.618299e-01	0	0	0	4	0	109	476
ZBED9	114821	broad.mit.edu	37	6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														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						ATGGCTTTAGCATTTTGGAAG	0.418																																						ENST00000452236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2011-2013)atG>atA									168.0	170.0	169.0					6																	28542469		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr6:28542469C>T																												ENST00000452236.2:c.2013G>A	chr6.hg19:g.28542469C>T	ENSP00000395259:p.Met671Ile	0					SCAND3_ENST00000530247.1_5'Flank	p.M671I	NM_052923.1	NP_443155.1	0	0	0	1.967613				3	2630	-				Missense_Mutation	SNP	ENST00000452236.2	1	1	hg19	c.2013G>A	CCDS34355.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925525	0.34002	.	.	ENSG00000232040	ENST00000452236	T	0.02395	4.31	3.51	2.63	0.31362	3.51	2.63	0.31362	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.24768	N	0.992881	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	9	0.72032	D	0.01	.	6.8742	0.24137	0.0:0.8686:0.0:0.1314	.	671	Q6R2W3	SCND3_HUMAN	I	671	ENSP00000395259:M671I	ENSP00000395259:M671I	M	-	3	0	0	SCAND3	28650448	28650448	0.996000	0.38824	0.876000	0.34364	0.989000	0.77384	1.206000	0.32321	0.817000	0.34445	0.563000	0.77884	ATG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1		2	2	2	0		0	0	170		170	166	1	2.060000	-20.000000	1	0.170000				157	156		800	783	1		1	0		0	0	170	0		1	0	0	0	0	1	0	157	800
ZBED9	114821	broad.mit.edu	37	6	28542676	28542676	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														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						AAACTACACAGGATAAAAATC	0.403																																						ENST00000452236.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1804-1806)tcC>tcA									53.0	52.0	52.0					6																	28542676		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr6:28542676G>T																												ENST00000452236.2:c.1806C>A	chr6.hg19:g.28542676G>T		0					SCAND3_ENST00000530247.1_5'Flank	p.S602S	NM_052923.1	NP_443155.1	0	0	0	1.967613				3	2423	-				Silent	SNP	ENST00000452236.2	1	1	hg19	c.1806C>A	CCDS34355.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.768857	1	0.170000				41	41		150	150	1		1			0	0	43	0		1	0	0	0	0	0	0	41	150
ZNF311	282890	broad.mit.edu	37	6	28963774	28963774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28963774G>A	ENST00000377179.3	-	7	1517	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTTCCCACAGTCCCTGCACT	0.512																																						ENST00000377179.3	0.620000	0.130000	4.700000e-01	2.100000e-01	0.320000	0.348748	0.320000	0.300000																										0				28						c.(1003-1005)gaC>gaT		zinc finger protein 311							85.0	60.0	69.0					6																	28963774		1511	2708	4219	SO:0001819	synonymous_variant	282890	0	0					g.chr6:28963774G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1005C>T	chr6.hg19:g.28963774G>A		0					ZNF311_ENST00000483450.1_5'UTR	p.D335D	NM_001010877.2	NP_001010877.2	0	0	0	1.967613	Q5JNZ3	ZN311_HUMAN		7	1517	-			A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	0	1	hg19	c.1005C>T	CCDS34357.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	0	0	0		2	2	2	0		0	0	35		35	33	1	2.060000	-7.368686	1	0.170000	XM_212581			6	6		219	207	0		1	0		0	0	35	0		9.592494e-01	9.996902e-03	0	0	0	5	0	6	219
ZNF311	282890	broad.mit.edu	37	6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438																																						ENST00000377179.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(187-189)tCa>tTa		zinc finger protein 311							118.0	84.0	96.0					6																	28967386		1511	2709	4220	SO:0001583	missense	282890	0	0					g.chr6:28967386G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.188C>T	chr6.hg19:g.28967386G>A	ENSP00000366384:p.Ser63Leu	0					ZNF311_ENST00000483450.1_5'UTR	p.S63L	NM_001010877.2	NP_001010877.2	0	0	0	1.967613	Q5JNZ3	ZN311_HUMAN		5	700	-			A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	1	1	hg19	c.188C>T	CCDS34357.1	1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033476	0.19590	.	.	ENSG00000197935	ENST00000377179	T	0.00737	5.76	3.48	-0.559	0.11792	3.48	-0.559	0.11792	Krueppel-associated box (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27673	-1.0067	9	0.15952	T	0.53	0.0796	0.4756	0.00539	0.3388:0.1782:0.3009:0.1821	.	63	Q5JNZ3	ZN311_HUMAN	L	63	ENSP00000366384:S63L	ENSP00000366384:S63L	S	-	2	0	0	ZNF311	29075365	29075365	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.429000	0.21412	-0.041000	0.13558	0.585000	0.79938	TCA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	XM_212581			48	48		169	164	0		1	0		0	0	33	0		1	2.194732e-01	0	0	0	4	0	48	169
OR2J3	442186	broad.mit.edu	37	6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403																																						ENST00000377169.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(109-111)ttC>ttA		olfactory receptor, family 2, subfamily J, member 3							271.0	284.0	280.0					6																	29079778		1287	2580	3867	SO:0001583	missense	442186	0	0					g.chr6:29079778C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.111C>A	chr6.hg19:g.29079778C>A	ENSP00000366374:p.Phe37Leu	0						p.F37L	NM_001005216.2	NP_001005216.2	0	0	0	1.967613	O76001	OR2J3_HUMAN		1	111	+			B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	1	1	hg19	c.111C>A	CCDS43433.1	1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047120	0.08243	.	.	ENSG00000204701	ENST00000377169	T	0.00625	6.14	2.78	2.78	0.32641	2.78	2.78	0.32641	.	.	.	.	.	T	0.00210	0.0006	N	0.16903	0.455	0.26392	N	0.976556	B	0.17852	0.024	B	0.21151	0.033	T	0.43048	-0.9415	9	0.32370	T	0.25	.	5.3118	0.15835	0.0:0.6649:0.2122:0.1229	.	37	O76001	OR2J3_HUMAN	L	37	ENSP00000366374:F37L	ENSP00000366374:F37L	F	+	3	2	2	OR2J3	29187757	29187757	0.000000	0.05858	0.965000	0.40720	0.159000	0.22180	-0.819000	0.04462	1.549000	0.49425	0.436000	0.28706	TTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2	1	0	0		2	2	2	0		0	0	220		220	219	1	2.060000	-20.000000	1	0.170000				262	257		978	957	1		1			0	0	220	0		1	0	0	0	0	0	0	262	978
OR2J2	26707	broad.mit.edu	37	6	29142140	29142140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29142140G>A	ENST00000377167.2	+	1	830	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGACATGTGGAGCCCATCTT	0.463																																						ENST00000377167.2	0.400000	0.140000	3.300000e-01	1.900000e-01	0.250000	0.266156	0.250000	0.250000																										0				25						c.(727-729)gGa>gAa		olfactory receptor, family 2, subfamily J, member 2							133.0	118.0	122.0					6																	29142140		1931	4133	6064	SO:0001583	missense	26707	2	120860	33				g.chr6:29142140G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.728G>A	chr6.hg19:g.29142140G>A	ENSP00000366372:p.Gly243Glu	0						p.G243E	NM_030905.2	NP_112167.2	0	0	0	1.967613	O76002	OR2J2_HUMAN		1	830	+			A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	0	1	hg19	c.728G>A	CCDS43434.1	0	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406875	0.11754	.	.	ENSG00000204700	ENST00000377167	T	0.37752	1.18	2.0	0.884	0.19182	2.0	0.884	0.19182	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48390	0.1497	M	0.91459	3.21	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.22277	-1.0221	9	0.87932	D	0	.	3.8844	0.09091	0.0:0.2146:0.3755:0.4099	.	243	O76002	OR2J2_HUMAN	E	243	ENSP00000366372:G243E	ENSP00000366372:G243E	G	+	2	0	0	OR2J2	29250119	29250119	0.000000	0.05858	0.790000	0.31976	0.631000	0.37964	-0.239000	0.08965	1.101000	0.41535	0.205000	0.17691	GGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2	0	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-2.897057	1	0.170000				15	16		674	660	0		1			0	0	133	0		9.998516e-01	0	0	0	0	0	0	15	674
OR14J1	442191	broad.mit.edu	37	6	29275057	29275057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438																																						ENST00000377160.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(589-591)ctG>ctA		olfactory receptor, family 14, subfamily J, member 1							159.0	163.0	162.0					6																	29275057		1511	2709	4220	SO:0001819	synonymous_variant	442191	0	0					g.chr6:29275057G>A		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.591G>A	chr6.hg19:g.29275057G>A		0						p.L197L	NM_030946.1	NP_112208.1	0	0	0	1.967613	Q9UGF5	O14J1_HUMAN		1	655	+			A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	1	1	hg19	c.591G>A	CCDS34362.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-3.339575	1	0.170000				121	116		573	565	1		1			0	0	149	0		1	0	0	0	0	0	0	121	573
OR10C1	442194	broad.mit.edu	37	6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557																																						ENST00000444197.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(220-222)tCt>tTt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							167.0	147.0	154.0					6																	29408013		1511	2709	4220	SO:0001583	missense	442194	0	0					g.chr6:29408013C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.221C>T	chr6.hg19:g.29408013C>T	ENSP00000419119:p.Ser74Phe	0					OR11A1_ENST00000377149.1_Intron	p.S74F	NM_013941.3	NP_039229.3	0	0	0	1.967613	Q96KK4	O10C1_HUMAN		1	931	+			Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	1	1	hg19	c.221C>T	CCDS34364.1	1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713759	0.15306	.	.	ENSG00000206474	ENST00000444197	T	0.03181	4.02	3.48	3.48	0.39840	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002426	T	0.03011	0.0089	M	0.83223	2.63	0.09310	N	1	B	0.22003	0.063	B	0.28305	0.088	T	0.17440	-1.0369	10	0.49607	T	0.09	.	9.1445	0.36923	0.0:0.8952:0.0:0.1048	.	74	Q96KK4	O10C1_HUMAN	F	74	ENSP00000419119:S74F	ENSP00000419119:S74F	S	+	2	0	0	OR10C1	29515992	29515992	0.017000	0.18338	0.026000	0.17262	0.008000	0.06430	2.401000	0.44513	1.946000	0.56461	0.430000	0.28490	TCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	0	0	0		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				114	111		513	503	1		1			0	0	111	0		1	0	0	0	0	0	0	114	513
OR10C1	442194	broad.mit.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622																																						ENST00000444197.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(439-441)gCg>gTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							80.0	91.0	87.0					6																	29408232		1509	2709	4218	SO:0001583	missense	442194	0	0					g.chr6:29408232C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.440C>T	chr6.hg19:g.29408232C>T	ENSP00000419119:p.Ala147Val	0					OR11A1_ENST00000377149.1_Intron	p.A147V	NM_013941.3	NP_039229.3	0	0	0	1.967613	Q96KK4	O10C1_HUMAN		1	1150	+			Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	1	1	hg19	c.440C>T	CCDS34364.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	0	OR10C1	29516211	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				131	130		451	448	1		1			0	0	87	0		1	0	0	0	0	0	0	131	451
OR10C1	442194	broad.mit.edu	37	6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592																																						ENST00000444197.2	0.590000	0.370000	5.400000e-01	4.200000e-01	0.470000	0.486872	0.470000	0.480000																										0				27						c.(700-702)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							237.0	264.0	254.0					6																	29408493		1511	2709	4220	SO:0001583	missense	442194	3	121258	39				g.chr6:29408493G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.701G>A	chr6.hg19:g.29408493G>A	ENSP00000419119:p.Arg234His	0					OR11A1_ENST00000377149.1_Intron	p.R234H	NM_013941.3	NP_039229.3	0	0	0	1.967613	Q96KK4	O10C1_HUMAN		1	1411	+			Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	1	1	hg19	c.701G>A	CCDS34364.1	0	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683637	0.00745	.	.	ENSG00000206474	ENST00000444197	T	0.00034	8.87	3.49	-0.841	0.10752	3.49	-0.841	0.10752	GPCR, rhodopsin-like superfamily (1);	0.381454	0.19248	N	0.119008	T	0.00012	0.0000	N	0.11927	0.2	0.09310	N	0.999999	B	0.10296	0.003	B	0.16289	0.015	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.6493	0.12587	0.4259:0.0:0.429:0.1451	.	234	Q96KK4	O10C1_HUMAN	H	234	ENSP00000419119:R234H	ENSP00000419119:R234H	R	+	2	0	0	OR10C1	29516472	29516472	0.000000	0.05858	0.049000	0.19019	0.015000	0.08874	-1.504000	0.02275	-0.486000	0.06744	-0.332000	0.08345	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	0	0	1		19	2	2	1		1	1	309		309	308	1	2.060000	-4.677888	1	0.170000				70	71		1612	1565	0		1			1	0	309	0		1	0	0	0	0	0	0	70	1612
OR10C1	442194	broad.mit.edu	37	6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T307M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502																																						ENST00000444197.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T307M(1)	ovary(1)	27						c.(919-921)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)		C	MET/THR	2,3020		0,2,1509	87.0	92.0	91.0		920	2.2	0.4	6	dbSNP_134	91	0,5418		0,0,2709	no	missense	OR10C1	NM_013941.3	81	0,2,4218	TT,TC,CC		0.0,0.0662,0.0237	benign	307/313	29408712	2,8438	1511	2709	4220	SO:0001583	missense	442194	7	118948	41				g.chr6:29408712C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.920C>T	chr6.hg19:g.29408712C>T	ENSP00000419119:p.Thr307Met	0					OR11A1_ENST00000377149.1_Intron	p.T307M	NM_013941.3	NP_039229.3	0	0	0	1.967613	Q96KK4	O10C1_HUMAN		1	1630	+			Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	1	1	hg19	c.920C>T	CCDS34364.1	1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936656	0.02340	6.62E-4	0.0	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.44	2.16	0.27623	3.44	2.16	0.27623	.	0.353536	0.20583	N	0.089488	T	0.00039	0.0001	N	0.21282	0.65	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.28427	-1.0044	10	0.39692	T	0.17	.	7.4689	0.27336	0.0:0.11:0.0:0.89	.	307	Q96KK4	O10C1_HUMAN	M	307	ENSP00000419119:T307M	ENSP00000419119:T307M	T	+	2	0	0	OR10C1	29516691	29516691	0.001000	0.12720	0.446000	0.26920	0.022000	0.10575	0.243000	0.18106	0.412000	0.25729	-0.312000	0.09012	ACG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000				97	95		397	384	0		1			0	0	114	0		1	0	0	0	0	0	0	97	397
MAS1L	116511	broad.mit.edu	37	6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	255					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(763-765)caG>caT		MAS1 proto-oncogene like, G protein-coupled receptor							37.0	39.0	38.0					6																	29454915		2203	4300	6503	SO:0001583	missense	116511	0	0					g.chr6:29454915C>A	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.765G>T	chr6.hg19:g.29454915C>A	ENSP00000366331:p.Gln255His	0						p.Q255H	NM_052967.1	NP_443199.1	0	0	0	1.967613	P35410	MAS1L_HUMAN		1	823	-			Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	1	1	hg19	c.765G>T	CCDS4661.1	1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716025	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.37411	1.2	2.23	2.23	0.28157	2.23	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.29188	0.236	B	0.36989	0.238	T	0.32877	-0.9890	9	0.23302	T	0.38	.	10.2658	0.43453	0.0:1.0:0.0:0.0	.	255	P35410	MAS1L_HUMAN	H	255	ENSP00000366331:Q255H	ENSP00000366331:Q255H	Q	-	3	2	2	MAS1L	29562894	29562894	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.708000	0.25719	1.291000	0.44653	0.498000	0.49722	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_052967			52	51		193	189	1		1			0	0	29	0		1	0	0	0	0	0	0	52	193
OR2H2	7932	broad.mit.edu	37	6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	94					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542																																						ENST00000383640.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(280-282)Gac>Aac		olfactory receptor, family 2, subfamily H, member 2							121.0	117.0	119.0					6																	29556001		1511	2709	4220	SO:0001583	missense	7932	0	0					g.chr6:29556001G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.280G>A	chr6.hg19:g.29556001G>A	ENSP00000373136:p.Asp94Asn	0					GABBR1_ENST00000355973.3_Intron	p.D94N	NM_007160.3	NP_009091.3	0	0	0	1.967613	O95918	OR2H2_HUMAN		1	319	+			Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	1	1	hg19	c.280G>A	CCDS34365.1	1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273938	0.40194	.	.	ENSG00000204657	ENST00000383640	T	0.03004	4.08	4.44	4.44	0.53790	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	94	O95918	OR2H2_HUMAN	N	94	ENSP00000373136:D94N	ENSP00000373136:D94N	D	+	1	0	0	OR2H2	29663980	29663980	0.049000	0.20398	0.940000	0.37924	0.964000	0.63967	2.301000	0.43628	2.292000	0.77174	0.585000	0.79938	GAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000				96	95		386	376	1		1	0		0	0	89	0		1	0	0	1	0	0	0	96	386
OR2H2	7932	broad.mit.edu	37	6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	292					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498																																						ENST00000383640.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(874-876)aAc>aGc		olfactory receptor, family 2, subfamily H, member 2							46.0	51.0	49.0					6																	29556596		1510	2708	4218	SO:0001583	missense	7932	0	0					g.chr6:29556596A>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.875A>G	chr6.hg19:g.29556596A>G	ENSP00000373136:p.Asn292Ser	0					GABBR1_ENST00000355973.3_Intron	p.N292S	NM_007160.3	NP_009091.3	0	0	0	1.967613	O95918	OR2H2_HUMAN		1	914	+			Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	1	1	hg19	c.875A>G	CCDS34365.1	1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679557	0.47886	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.31	3.12	0.35913	4.31	3.12	0.35913	.	0.000000	0.45126	D	0.000396	T	0.44850	0.1313	M	0.64997	1.995	0.23831	N	0.996729	D	0.89917	1.0	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	.	10.013	0.41997	0.8293:0.1707:0.0:0.0	.	292	O95918	OR2H2_HUMAN	S	292	ENSP00000373136:N292S	ENSP00000373136:N292S	N	+	2	0	0	OR2H2	29664575	29664575	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.753000	0.47524	0.658000	0.30925	0.482000	0.46254	AAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2	1	0	1		2	2	2	0		0	0	52		52	65	1	2.060000	-20.000000	1	0.170000				45	45		191	184	1		1			0	0	52	0		1	0	0	0	0	0	0	45	191
GABBR1	2550	broad.mit.edu	37	6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D|GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	428					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)			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)	ATTCAGCATGACAATCTCAGT	0.537																																						ENST00000377034.4	0.770000	0.270000	6.300000e-01	3.700000e-01	0.490000	0.507597	0.490000	0.470000																										0				47						c.(1282-1284)gTc>gAc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)						144.0	110.0	122.0					6																	29588918		1511	2709	4220	SO:0001583	missense	2550	0	0					g.chr6:29588918A>T	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.1283T>A	chr6.hg19:g.29588918A>T	ENSP00000366233:p.Val428Asp	0					GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	p.V428D	NM_001470.2	NP_001461.1	0	0	0	1.967613	Q9UBS5	GABR1_HUMAN		11	1618	-			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	1	1	hg19	c.1283T>A	CCDS4663.1	0	.	.	.	.	.	.	.	.	.	.	a	25.9	4.685199	0.88639	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.947;0.943;0.999;0.999	D	0.83484	0.0066	10	0.72032	D	0.01	-16.2389	13.8215	0.63322	1.0:0.0:0.0:0.0	.	428;366;428;311	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	311;428;366;311;428	ENSP00000348248:V311D;ENSP00000366176:V428D;ENSP00000366215:V366D;ENSP00000366211:V311D;ENSP00000366233:V428D	ENSP00000348248:V311D	V	-	2	0	0	GABBR1	29696897	29696897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.806000	0.91930	2.168000	0.68352	0.520000	0.50463	GTC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-14.337520	1	0.170000				13	13		299	287	0		1	0		0	0	54	0		9.994331e-01	1.758500e-01	0	0	0	17	0	13	299
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376917.3	+	3	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557																																						ENST00000376917.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A160V(1)	large_intestine(1)	19						c.(478-480)gCg>gTg		myelin oligodendrocyte glycoprotein							296.0	249.0	266.0					6																	29633971		1511	2709	4220	SO:0001583	missense	4340	0	0					g.chr6:29633971C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.479C>T	chr6.hg19:g.29633971C>T	ENSP00000366115:p.Ala160Val	0					MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000416766.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V	p.A160V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	0	0	0	1.967613	Q16653	MOG_HUMAN		3	708	+			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	1	1	hg19	c.479C>T	CCDS34370.1	1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	0	MOG	29741950	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	1	0	1		2	2	2	0		0	0	183		183	181	1	2.060000	-20.000000	1	0.170000	NM_002433			180	179		787	773	1		1			0	0	183	0		1	0	0	0	0	0	0	180	787
MOG	4340	broad.mit.edu	37	6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376917.3	+	4	788	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376894.4_Nonsense_Mutation_p.R187*|MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	187					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507																																						ENST00000376917.3	1.000000	0.700000	1	8.300000e-01	0.980000	0.935238	0.980000	1.000000																										0				19						c.(559-561)Cga>Tga		myelin oligodendrocyte glycoprotein							186.0	179.0	181.0					6																	29635428		2203	4300	6503	SO:0001587	stop_gained	4340	0	0					g.chr6:29635428C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.559C>T	chr6.hg19:g.29635428C>T	ENSP00000366115:p.Arg187*	0					MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376894.4_Nonsense_Mutation_p.R187*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*	p.R187*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	0	0	0	1.967613	Q16653	MOG_HUMAN		4	788	+			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	0	1	hg19	c.559C>T	CCDS34370.1	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920335	0.73098	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.09	2.36	0.29203	5.09	2.36	0.29203	.	0.343745	0.21435	N	0.074597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4759	0.16695	0.0:0.6592:0.1633:0.1775	.	.	.	.	X	187;71;187;71;71;149;187;187;187;187;187;187	.	ENSP00000366085:R71X	R	+	1	2	2	MOG	29743407	29743407	0.022000	0.18835	0.326000	0.25389	0.956000	0.61745	0.731000	0.26058	0.412000	0.25729	0.655000	0.94253	CGA	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-3.318794	1	0.170000	NM_002433			35	33		376	371	0		1			0	0	73	0		1	0	0	0	0	0	0	35	376
HLA-F	3134	broad.mit.edu	37	6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	42	Alpha-1.				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)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGAGCCCCGCTACATCGCC	0.687																																						ENST00000376861.1	0.800000	0.180000	6.100000e-01	2.800000e-01	0.430000	0.456266	0.430000	0.400000																										0				8						c.(124-126)cGc>cAc		major histocompatibility complex, class I, F							18.0	22.0	21.0					6																	29691495		1480	2692	4172	SO:0001583	missense	3134	2	119574	25				g.chr6:29691495G>A	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	ENST00000376861.1:c.125G>A	chr6.hg19:g.29691495G>A	ENSP00000366057:p.Arg42His	0					HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H	p.R42H			0	0	0	1.967613	P30511	HLAF_HUMAN		3	509	+			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	0	1	hg19	c.125G>A	CCDS43438.1	0	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028772	0.07589	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00856	9.34;5.61;9.34;9.34;9.34	1.63	0.666	0.17901	1.63	0.666	0.17901	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.288637	0.18382	U	0.142933	T	0.01905	0.0060	M	0.90198	3.095	0.21675	N	0.999592	P;D;D;D	0.76494	0.837;0.999;0.996;0.998	B;D;B;D	0.70716	0.228;0.916;0.198;0.97	T	0.36016	-0.9765	10	0.87932	D	0	.	4.0933	0.09980	0.2471:0.0:0.7529:0.0	.	42;42;42;42	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	42	ENSP00000366057:R42H;ENSP00000389590:R42H;ENSP00000334263:R42H;ENSP00000259951:R42H;ENSP00000397376:R42H	ENSP00000259951:R42H	R	+	2	0	0	HLA-F	29799474	29799474	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.327000	0.07955	0.015000	0.14971	0.436000	0.28706	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.203625	1	0.170000	NM_018950			6	6		164	163	0		1	1		0	0	25	0		9.651784e-01	9.999533e-01	0	15	0	734	0	6	164
HLA-G	3135	broad.mit.edu	37	6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000360323.6	+	3	484	c.460C>A	c.(460-462)Ctg>Atg	p.L154M	HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.622																																						ENST00000360323.6	0.760000	0.350000	6.500000e-01	4.400000e-01	0.530000	0.552223	0.530000	0.530000																										0				21	GRCh37	CD984106	HLA-G	D	rs41557518	c.(460-462)Ctg>Atg		major histocompatibility complex, class I, G							113.0	99.0	104.0					6																	29796436		1511	2709	4220	SO:0001583	missense	3135	0	0					g.chr6:29796436C>A		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.460C>A	chr6.hg19:g.29796436C>A	ENSP00000353472:p.Leu154Met	0					HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron	p.L154M			0	0	0	1.967613	P17693	HLAG_HUMAN		3	484	+				Missense_Mutation	SNP	ENST00000360323.6	1	1	hg19	c.460C>A	CCDS4668.1	0	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193006	0.38707	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.01076	5.37;5.37;5.37	1.72	-0.768	0.11013	1.72	-0.768	0.11013	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.537287	0.12660	U	0.449709	T	0.03348	0.0097	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19745	-1.0296	10	0.87932	D	0	.	2.4347	0.04480	0.4383:0.3625:0.0:0.1993	.	159;154	Q5RJ85;P17693	.;HLAG_HUMAN	M	159;154;154	ENSP00000366024:L159M;ENSP00000412927:L154M;ENSP00000353472:L154M	ENSP00000353472:L154M	L	+	1	2	2	HLA-G	29904415	29904415	0.000000	0.05858	0.890000	0.34922	0.087000	0.18053	-0.549000	0.06041	0.071000	0.16664	0.298000	0.19748	CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-4.751193	1	0.170000	NM_002127			25	24		513	509	0		1	1		0	0	111	0		9.999998e-01	4.069910e-01	0	9	0	20	0	25	513
HLA-A	3105	broad.mit.edu	37	6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G	rs199474503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	137	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|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)			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						CTCCGCGGGTACCGGCAGGAC	0.667									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)																												ENST00000396634.1	1.000000	0.810000	1	9.800000e-01	0.990000	0.983890	0.990000	1.000000																										0				30						c.(409-411)tAc>tGc		major histocompatibility complex, class I, A							33.0	25.0	28.0					6																	29911111		1495	2696	4191	SO:0001583	missense	3105	0	0		Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	g.chr6:29911111A>G	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.410A>G	chr6.hg19:g.29911111A>G	ENSP00000379873:p.Tyr137Cys	0	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C	p.Y137C			0	0	0	1.967613	P16189	1A31_HUMAN		5	751	+			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	1	1	hg19	c.410A>G	CCDS34373.1	1	.	.	.	.	.	.	.	.	.	.	.	9.604	1.129503	0.21041	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01068	5.38;5.38;5.38;5.38	3.78	2.5	0.30297	3.78	2.5	0.30297	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.538304	0.13547	U	0.379726	T	0.08537	0.0212	H	0.99887	4.895	0.23751	N	0.996947	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0;1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	7.6849	0.28534	0.811:0.0:0.0:0.189	.	16;137;137;137;137;137;137	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	137	ENSP00000379873:Y137C;ENSP00000366002:Y137C;ENSP00000366005:Y137C;ENSP00000365998:Y137C	ENSP00000348012:Y137C	Y	+	2	0	0	HLA-A	30019090	30019090	0.001000	0.12720	0.757000	0.31301	0.175000	0.22909	0.862000	0.27899	1.710000	0.51325	0.397000	0.26171	TAC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	1	0	0		2	2	2	0		0	0	45		45	42	1	2.060000	-20.000000	1	0.170000	NM_002116			27	26		234	224	0		1	1		0	0	45	0		9.999999e-01	1	0	461	0	4174	0	27	234
HLA-A	3105	broad.mit.edu	37	6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A	rs199474504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	139	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|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)			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						CGGGTACCGGCAGGACGCCTA	0.657									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)																												ENST00000396634.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				30						c.(415-417)Cag>Aag		major histocompatibility complex, class I, A							34.0	26.0	29.0					6																	29911116		1493	2698	4191	SO:0001583	missense	3105	0	0		Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	g.chr6:29911116C>A	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.415C>A	chr6.hg19:g.29911116C>A	ENSP00000379873:p.Gln139Lys	0	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K	p.Q139K			0	0	0	1.967613	P16189	1A31_HUMAN		5	756	+			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	1	1	hg19	c.415C>A	CCDS34373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000355767|ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.|T;T;T;T	.|0.00015	.|9.17;9.17;9.17;9.17	3.78|3.78	1.86|1.86	0.25419|0.25419	3.78|3.78	1.86|1.86	0.25419|0.25419	.|MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	.|0.000000	.|0.34200	.|U	.|0.004173	.|T	.|0.00241	.|0.0007	H|H	0.98238|0.98238	4.18|4.18	0.09310|0.09310	N|N	1|1	.|P;D;P;D;P;D;D	.|0.61697	.|0.641;0.99;0.953;0.989;0.953;0.982;0.989	.|B;D;D;D;D;D;D	.|0.80764	.|0.413;0.994;0.965;0.987;0.965;0.987;0.987	.|T	.|0.25222	.|-1.0138	.|10	.|0.87932	.|D	.|0	.|.	8.0676|8.0676	0.30669|0.30669	0.1792:0.6472:0.1736:0.0|0.1792:0.6472:0.1736:0.0	.|.	.|18;139;139;139;139;139;139	.|B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.|.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	.|K	-1|139	.|ENSP00000379873:Q139K;ENSP00000366002:Q139K;ENSP00000366005:Q139K;ENSP00000365998:Q139K	.|ENSP00000365998:Q139K	.|Q	+|+	.|1	.|0	.|0	HLA-A|HLA-A	30019095|30019095	30019095|30019095	0.054000|0.054000	0.20591|0.20591	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.909000|1.909000	0.39917|0.39917	0.327000|0.327000	0.23409|0.23409	0.485000|0.485000	0.47835|0.47835	.|CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	0	0	0		2	2	2	0		0	0	48		48	44	1	2.060000	-2.925734	1	0.170000	NM_002116			45	43		223	214	0		1	1		0	0	48	0		1	1	0	647	0	3540	0	45	223
PPP1R11	6992	broad.mit.edu	37	6	30036959	30036959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30036959G>A	ENST00000376772.3	+	3	580	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	86						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GAGGGCTGTGGTCATACACAC	0.602																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3	0.360000	0.100000	2.900000e-01	1.400000e-01	0.200000	0.220480	0.200000	0.200000																										0				6						c.(256-258)gGt>gAt		protein phosphatase 1, regulatory (inhibitor) subunit 11							76.0	79.0	78.0					6																	30036959		1509	2708	4217	SO:0001583	missense	6992	0	0					g.chr6:30036959G>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.257G>A	chr6.hg19:g.30036959G>A	ENSP00000365963:p.Gly86Asp	0					PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D	p.G86D	NM_021959.2	NP_068778.1	0	0	0	1.967613	O60927	PP1RB_HUMAN		3	580	+				Missense_Mutation	SNP	ENST00000376772.3	0	1	hg19	c.257G>A	CCDS4671.1	0	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321611	0.60634	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.53	0.55603	5.4	4.53	0.55603	.	0.152389	0.64402	D	0.000016	T	0.27524	0.0676	L	0.29908	0.895	0.53688	D	0.999974	P	0.37061	0.58	B	0.37601	0.254	T	0.26155	-1.0111	9	0.87932	D	0	-0.286	11.592	0.50951	0.0:0.0:0.8219:0.1781	.	86	O60927	PP1RB_HUMAN	D	34;86;34;34;34;34	.	ENSP00000365949:G34D	G	+	2	0	0	PPP1R11	30144938	30144938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.799000	0.85936	1.257000	0.44085	0.549000	0.68633	GGT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	0	0	0		2	2	2	0		0	0	70		70	69	1	2.060000	-7.704140	1	0.170000	NM_021959			9	8		509	498	0		1	1		0	0	70	0		9.936503e-01	9.622329e-01	0	10	0	312	0	9	509
RNF39	80352	broad.mit.edu	37	6	30038975	30038975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGGGGCCAGGCGCCTGGAAGG	0.687																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0										c.(1174-1176)gcG>gcA		ring finger protein 39							15.0	11.0	13.0					6																	30038975		1496	2697	4193	SO:0001819	synonymous_variant	80352	0	0					g.chr6:30038975C>T	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.1176G>A	chr6.hg19:g.30038975C>T		0					RNF39_ENST00000376751.3_Silent_p.A326A	p.A392A	NM_025236.3	NP_079512.2	0	0	0	1.967613	Q9H2S5	RNF39_HUMAN		4	1273	-			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	1	1	hg19	c.1176G>A	CCDS4673.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_170769			22	21		67	66	1		1	1		0	0	13	0		9.999995e-01	2.685180e-01	0	2	0	2	0	22	67
RNF39	80352	broad.mit.edu	37	6	30039014	30039014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	379	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGCGGCCGTCGTAGAAGGCCA	0.721																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6	1.000000	0.780000	1	9.900000e-01	0.990000	0.983533	0.990000	1.000000																										0										c.(1135-1137)taC>taT		ring finger protein 39							14.0	11.0	12.0					6																	30039014		1494	2681	4175	SO:0001819	synonymous_variant	80352	0	0					g.chr6:30039014G>A	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.1137C>T	chr6.hg19:g.30039014G>A		0					RNF39_ENST00000376751.3_Intron	p.Y379Y	NM_025236.3	NP_079512.2	0	0	0	1.967613	Q9H2S5	RNF39_HUMAN		4	1234	-			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	0	1	hg19	c.1137C>T	CCDS4673.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-19.964730	1	0.170000	NM_170769			13	13		95	93	0		1	1		0	0	12	0		9.995728e-01	1.262102e-01	0	3	0	2	0	13	95
RNF39	80352	broad.mit.edu	37	6	30041026	30041026	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39							cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GACTTCAAATCTACACAGATG	0.458																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.e3-1		ring finger protein 39							113.0	111.0	112.0					6																	30041026		1511	2709	4220	SO:0001630	splice_region_variant	80352	0	0					g.chr6:30041026C>A	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.591-1G>T	chr6.hg19:g.30041026C>A		0					RNF39_ENST00000376751.3_Splice_Site		NM_025236.3	NP_079512.2	0	0	0	1.967613	Q9H2S5	RNF39_HUMAN		3	688	-			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Splice_Site	SNP	ENST00000244360.6	1	1	hg19		CCDS4673.1	1	.	.	.	.	.	.	.	.	.	.	c	8.023	0.760024	0.15846	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	.	.	.	3.99	3.99	0.46301	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8043	0.52145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RNF39	30149005	30149005	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	3.515000	0.53429	2.242000	0.73789	0.466000	0.42574	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.443736	1	0.170000	NM_170769	Intron		92	88		381	375	1		1	1		0	0	63	0		1	4.831098e-01	0	2	0	6	0	92	381
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597																																						ENST00000396581.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(565-567)gcG>gcA		tripartite motif containing 40							76.0	68.0	71.0					6																	30114887		2203	4300	6503	SO:0001819	synonymous_variant	135644	2	121412	31				g.chr6:30114887G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	chr6.hg19:g.30114887G>A		0					TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A	p.A189A			0	0	0	1.967613	Q6P9F5	TRI40_HUMAN		4	953	+			Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	1	1	hg19	c.567G>A		1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.759820	1	0.170000				72	72		264	261	1		1	0		0	0	62	0		1	4.714528e-02	0	1	0	1	0	72	264
TRIM26	7726	broad.mit.edu	37	6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T	rs371459188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	44					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602																																						ENST00000454678.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				3						c.(130-132)cGc>cAc		tripartite motif containing 26		C	HIS/ARG,HIS/ARG	0,3020		0,0,1510	48.0	45.0	46.0		131,131	5.6	0.9	6		46	1,5417		0,1,2708	no	missense,missense	TRIM26	NM_003449.4,NM_001242783.1	29,29	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	benign,benign	44/540,44/540	30166750	1,8437	1510	2709	4219	SO:0001583	missense	7726	0	0					g.chr6:30166750C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.131G>A	chr6.hg19:g.30166750C>T	ENSP00000410446:p.Arg44His	0					TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR	p.R44H	NM_003449.4	NP_003440.1	0	0	0	1.967613	Q12899	TRI26_HUMAN		4	567	-			A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	1	1	hg19	c.131G>A	CCDS4678.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116427	0.37339	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.265447	0.27302	N	0.019995	T	0.04634	0.0126	L	0.58354	1.805	0.38578	D	0.950108	B	0.32245	0.361	B	0.22753	0.041	T	0.32587	-0.9901	10	0.22109	T	0.4	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	44	Q12899	TRI26_HUMAN	H	44	ENSP00000391879:R44H;ENSP00000410446:R44H;ENSP00000395491:R44H;ENSP00000413673:R44H;ENSP00000387530:R44H;ENSP00000400920:R44H	ENSP00000413673:R44H	R	-	2	0	0	TRIM26	30274729	30274729	0.002000	0.14202	0.911000	0.35937	0.044000	0.14063	-0.183000	0.09712	2.631000	0.89168	0.643000	0.83706	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.437460	1	0.170000	NM_003449			38	38		207	203	1		1	1		0	0	45	0		1	9.999890e-01	0	19	0	79	0	38	207
TRIM39	56658	broad.mit.edu	37	6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000396547.1	+	2	324	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000376659.5_Missense_Mutation_p.R55H|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	55					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547																																						ENST00000396547.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(163-165)cGc>cAc		tripartite motif containing 39							173.0	158.0	163.0					6																	30297258		1509	2708	4217	SO:0001583	missense	56658	0	0					g.chr6:30297258G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.164G>A	chr6.hg19:g.30297258G>A	ENSP00000379796:p.Arg55His	0					TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.R55H|TRIM39-RPP21_ENST00000513556.1_5'Flank	p.R55H			0	0	0	1.967613	Q9HCM9	TRI39_HUMAN		2	324	+			Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	1	1	hg19	c.164G>A	CCDS34377.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782143	0.70222	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;2.18;-1.91;-1.91;-1.91;-1.91	5.15	2.36	0.29203	5.15	2.36	0.29203	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	T	0.80560	0.4646	L	0.52126	1.63	0.26498	N	0.974821	D;B	0.76494	0.999;0.201	D;B	0.63192	0.912;0.064	T	0.71314	-0.4630	10	0.41790	T	0.15	.	7.3567	0.26723	0.3472:0.0:0.6528:0.0	.	55;55	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	55	ENSP00000405928:R55H;ENSP00000394768:R55H;ENSP00000379800:R55H;ENSP00000365844:R55H;ENSP00000439400:R55H;ENSP00000406019:R55H;ENSP00000379797:R55H;ENSP00000405498:R55H;ENSP00000365847:R55H;ENSP00000379796:R55H	ENSP00000365844:R55H	R	+	2	0	0	TRIM39	30405237	30405237	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.754000	0.32968	0.561000	0.74099	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000	NM_172016			131	125		559	553	1		1	1		0	0	145	0		1	9.954091e-01	0	7	0	30	0	131	559
GNL1	2794	broad.mit.edu	37	6	30514929	30514929	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637																																						ENST00000376621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1399-1401)ccC>ccA		guanine nucleotide binding protein-like 1							94.0	100.0	98.0					6																	30514929		1511	2708	4219	SO:0001819	synonymous_variant	2794	0	0					g.chr6:30514929G>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1401C>A	chr6.hg19:g.30514929G>T		0						p.P467P	NM_005275.3	NP_005266.2	0	0	0	1.967613	P36915	GNL1_HUMAN		10	2371	-			B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	1	1	hg19	c.1401C>A	CCDS4680.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-2.868677	1	0.170000				111	107		523	514	1		1	1		0	0	117	0		1	1	0	78	0	197	0	111	523
GNL1	2794	broad.mit.edu	37	6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A	rs542666619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602																																						ENST00000376621.3	0.630000	0.300000	5.500000e-01	3.700000e-01	0.450000	0.465774	0.450000	0.450000																										0				25						c.(823-825)Cgg>Tgg		guanine nucleotide binding protein-like 1							85.0	89.0	88.0					6																	30520942		2203	4300	6503	SO:0001583	missense	2794	11	121412	42				g.chr6:30520942G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.823C>T	chr6.hg19:g.30520942G>A	ENSP00000365806:p.Arg275Trp	0						p.R275W	NM_005275.3	NP_005266.2	0	0	0	1.967613	P36915	GNL1_HUMAN		7	1793	-			B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	1	1	hg19	c.823C>T	CCDS4680.1	0	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476934	0.84640	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.168978	0.48286	D	0.000182	T	0.57784	0.2077	M	0.71206	2.165	0.45227	D	0.998237	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66979	0.948;0.893;0.853	T	0.61501	-0.7050	10	0.62326	D	0.03	-26.8611	12.7425	0.57261	0.0:0.0:0.8354:0.1645	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	W	275;97;137	ENSP00000365806:R275W	ENSP00000365806:R275W	R	-	1	2	2	GNL1	30628921	30628921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.552000	0.86080	0.655000	0.94253	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2	0	0	1		2	2	2	0		0	0	141		141	136	1	2.060000	-3.800306	1	0.170000				27	27		662	639	0		1	1		0	0	141	0		9.999999e-01	9.997229e-01	0	15	0	293	0	27	662
PRR3	80742	broad.mit.edu	37	6	30530251	30530251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.G161G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	182							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532																																						ENST00000376560.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(544-546)ggC>ggT		proline rich 3							159.0	158.0	159.0					6																	30530251		2028	4216	6244	SO:0001819	synonymous_variant	80742	1	121050	32				g.chr6:30530251C>T	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.546C>T	chr6.hg19:g.30530251C>T		0					PRR3_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	p.G182G	NM_025263.3	NP_079539.2	0	0	0	1.967613	P79522	PRR3_HUMAN		4	1005	+			A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	1	1	hg19	c.546C>T	CCDS43440.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000	NM_025263			152	150		634	627	1		1	1		0	0	143	0		1	9.960594e-01	0	8	0	29	0	152	634
ABCF1	23	broad.mit.edu	37	6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	130					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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478																																						ENST00000326195.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(388-390)Aat>Tat		ATP-binding cassette, sub-family F (GCN20), member 1							100.0	85.0	90.0					6																	30546253		2203	4300	6503	SO:0001583	missense	23	0	0					g.chr6:30546253A>T	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.388A>T	chr6.hg19:g.30546253A>T	ENSP00000313603:p.Asn130Tyr	0					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	p.N130Y	NM_001025091.1	NP_001020262.1	0	0	0	1.967613	Q8NE71	ABCF1_HUMAN		6	500	+			A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	1	1	hg19	c.388A>T	CCDS34380.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298034	0.81025	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.68765	1.53;0.54;0.62;-0.35	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.77400	-0.2602	10	0.87932	D	0	-28.44	11.675	0.51424	1.0:0.0:0.0:0.0	.	130;130;130	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Y	130;130;131;131;33	ENSP00000313603:N130Y;ENSP00000365728:N130Y;ENSP00000405512:N131Y;ENSP00000440893:N33Y	ENSP00000313603:N130Y	N	+	1	0	0	ABCF1	30654232	30654232	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.007000	0.76335	2.084000	0.62774	0.460000	0.39030	AAT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				42	42		156	151	1		1	1		0	0	62	0		1	1	0	66	0	164	0	42	156
ABCF1	23	broad.mit.edu	37	6	30553100	30553100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_ENST00000376545.3_Silent_p.N447N|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	485	ABC transporter 1. {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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562																																						ENST00000326195.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1453-1455)aaC>aaT		ATP-binding cassette, sub-family F (GCN20), member 1							216.0	159.0	179.0					6																	30553100		1511	2709	4220	SO:0001819	synonymous_variant	23	2	119722	35				g.chr6:30553100C>T	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.1455C>T	chr6.hg19:g.30553100C>T		0					MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	p.N485N	NM_001025091.1	NP_001020262.1	0	0	0	1.967613	Q8NE71	ABCF1_HUMAN		15	1567	+			A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	1	1	hg19	c.1455C>T	CCDS34380.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				78	76		306	296	1		1	1		0	0	111	0		1	1	0	43	0	141	0	78	306
DHX16	8449	broad.mit.edu	37	6	30628018	30628018	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Splice_Site_p.V35M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	516	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512																																						ENST00000376442.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				4						c.(1546-1548)Gtg>Atg		DEAH (Asp-Glu-Ala-His) box polypeptide 16							103.0	89.0	94.0					6																	30628018		1510	2709	4219	SO:0001630	splice_region_variant	8449	2	116476	35				g.chr6:30628018C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1545-1G>A	chr6.hg19:g.30628018C>T		0					DHX16_ENST00000376437.5_Splice_Site_p.V35M|DHX16_ENST00000480966.1_5'UTR	p.V516M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	0	0	0	1.967613	O60231	DHX16_HUMAN		10	1741	-			O60322|Q5JP45|Q969X7|Q96QC1	Splice_Site	SNP	ENST00000376442.3	1	0	hg19	c.1546G>A	CCDS4685.1	1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660165	0.67586	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.24723	1.84;1.84	4.9	4.9	0.64082	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.995;0.99;0.999	P;D;D	0.65874	0.791;0.914;0.939	T	0.65796	-0.6081	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	456;516;35	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	516;35	ENSP00000365625:V516M;ENSP00000365620:V35M	ENSP00000365620:V35M	V	-	1	0	0	DHX16	30735997	30735997	0.996000	0.38824	0.962000	0.40283	0.409000	0.31022	3.337000	0.52120	2.707000	0.92482	0.555000	0.69702	GTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_003587	Missense_Mutation		41	41		209	207	1		1	1		0	0	52	0		1	9.999977e-01	0	26	0	78	0	41	209
DHX16	8449	broad.mit.edu	37	6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	494	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547																																						ENST00000376442.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1480-1482)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							100.0	80.0	87.0					6																	30630467		1511	2709	4220	SO:0001583	missense	8449	4	118256	35				g.chr6:30630467C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1481G>A	chr6.hg19:g.30630467C>T	ENSP00000365625:p.Arg494His	0					DHX16_ENST00000376437.5_5'Flank|DHX16_ENST00000480966.1_5'Flank	p.R494H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	0	0	0	1.967613	O60231	DHX16_HUMAN		9	1676	-			O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	1	1	hg19	c.1481G>A	CCDS4685.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663347	0.88251	.	.	ENSG00000204560	ENST00000376442	T	0.32515	1.45	5.39	5.39	0.77823	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052497	0.64402	D	0.000001	T	0.29976	0.0750	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58266	0.836;0.803	T	0.09640	-1.0665	10	0.87932	D	0	.	8.0096	0.30344	0.0:0.8351:0.0:0.1648	.	434;494	B4DZ28;O60231	.;DHX16_HUMAN	H	494	ENSP00000365625:R494H	ENSP00000365625:R494H	R	-	2	0	0	DHX16	30738446	30738446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.861000	0.62969	2.809000	0.96659	0.555000	0.69702	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.796566	1	0.170000	NM_003587			54	53		204	201	1		1	1		0	0	54	0		1	9.999982e-01	0	21	0	57	0	54	204
DHX16	8449	broad.mit.edu	37	6	30632720	30632720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30632720A>C	ENST00000376442.3	-	7	1370	c.1175T>G	c.(1174-1176)aTc>aGc	p.I392S	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	392					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GACGGCCTGGATGGACTCTTT	0.567																																						ENST00000376442.3	0.550000	0.120000	4.200000e-01	1.900000e-01	0.290000	0.313700	0.290000	0.270000																										0				4						c.(1174-1176)aTc>aGc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							53.0	54.0	53.0					6																	30632720		1511	2709	4220	SO:0001583	missense	8449	0	0					g.chr6:30632720A>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1175T>G	chr6.hg19:g.30632720A>C	ENSP00000365625:p.Ile392Ser	0					DHX16_ENST00000376437.5_5'Flank	p.I392S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	0	0	0	1.967613	O60231	DHX16_HUMAN		7	1370	-			O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	0	1	hg19	c.1175T>G	CCDS4685.1	0	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130383	0.77549	.	.	ENSG00000204560	ENST00000376442	T	0.02656	4.21	5.18	3.97	0.46021	5.18	3.97	0.46021	.	0.155354	0.56097	D	0.000025	T	0.11580	0.0282	M	0.93150	3.385	0.80722	D	1	D;D	0.63880	0.99;0.993	P;D	0.68621	0.902;0.959	T	0.00320	-1.1820	10	0.87932	D	0	.	9.3119	0.37910	0.8409:0.0:0.0:0.1591	.	332;392	B4DZ28;O60231	.;DHX16_HUMAN	S	392	ENSP00000365625:I392S	ENSP00000365625:I392S	I	-	2	0	0	DHX16	30740699	30740699	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.348000	0.59379	1.959000	0.56917	0.402000	0.26972	ATC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-7.530093	1	0.170000	NM_003587			6	6		245	241	0		1	0		0	0	50	0		9.637311e-01	6.923005e-01	0	0	0	95	0	6	245
DHX16	8449	broad.mit.edu	37	6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562																																						ENST00000376442.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(457-459)caG>caT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							176.0	130.0	147.0					6																	30638717		1511	2709	4220	SO:0001583	missense	8449	0	0					g.chr6:30638717C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.459G>T	chr6.hg19:g.30638717C>A	ENSP00000365625:p.Gln153His	0						p.Q153H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	0	0	0	1.967613	O60231	DHX16_HUMAN		3	654	-			O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	1	1	hg19	c.459G>T	CCDS4685.1	1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055593	0.19907	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65549	-0.16;1.94	4.58	2.72	0.32119	4.58	2.72	0.32119	.	0.832667	0.10921	N	0.619429	T	0.18676	0.0448	N	0.08118	0	0.39635	D	0.970235	B;B	0.33841	0.428;0.428	B;B	0.17979	0.02;0.014	T	0.06058	-1.0848	10	0.39692	T	0.17	.	7.9777	0.30164	0.0:0.7938:0.0:0.2062	.	93;153	B4DZ28;O60231	.;DHX16_HUMAN	H	153;93	ENSP00000365625:Q153H;ENSP00000399101:Q93H	ENSP00000365625:Q153H	Q	-	3	2	2	DHX16	30746696	30746696	0.000000	0.05858	0.154000	0.22540	0.678000	0.39670	-0.331000	0.07914	1.133000	0.42147	0.454000	0.30748	CAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_003587			112	110		466	455	1		1	1		0	0	116	0		1	1	0	43	0	108	0	112	466
MDC1	9656	broad.mit.edu	37	6	30680738	30680738	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30680738G>A	ENST00000376406.3	-	5	1628	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	327	Required for nuclear localization (NLS1).				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)			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532								Other conserved DNA damage response genes																														ENST00000376406.3	0.380000	0.110000	3.100000e-01	1.600000e-01	0.220000	0.240336	0.220000	0.220000																										0				4						c.(979-981)atC>atT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							122.0	126.0	124.0					6																	30680738		1511	2709	4220	SO:0001819	synonymous_variant	9656	5	118028	39				g.chr6:30680738G>A	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.981C>T	chr6.hg19:g.30680738G>A		0					MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.I327I|MDC1-AS1_ENST00000442150.1_RNA	p.I327I	NM_014641.2	NP_055456.2	0	0	0	1.967613	Q14676	MDC1_HUMAN		5	1628	-			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	0	1	hg19	c.981C>T	CCDS34384.1	0																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	0	0	1		16	3	2	1		1	1	129		129	127	1	2.060000	-2.472156	0	0.170000	NM_014641			11	11		560	547	0		0	0		1	0	129	0		1.994354e-01	4.705805e-02	0	0	0	37	0	11	560
DDR1	780	broad.mit.edu	37	6	30860156	30860156	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000324771.8	+	10	1484	c.936C>A	c.(934-936)gcC>gcA	p.A312A	DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000446312.1_3'UTR|MIR4640_ENST00000581824.1_RNA			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	312	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687																																						ENST00000324771.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(934-936)gcC>gcA		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						35.0	36.0	36.0					6																	30860156		2202	4299	6501	SO:0001819	synonymous_variant	780	0	0					g.chr6:30860156C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.936C>A	chr6.hg19:g.30860156C>A		0					MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A	p.A312A			0	0	0	1.967613	Q08345	DDR1_HUMAN		10	1484	+			B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	1	1	hg19	c.936C>A	CCDS34385.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_013994			66	64		288	287	1		1	1		0	0	54	0		1	1	0	156	0	245	0	66	288
DDR1	780	broad.mit.edu	37	6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000324771.8	+	10	1579	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000446312.1_3'UTR|MIR4640_ENST00000581824.1_RNA			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	344	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647																																						ENST00000324771.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1030-1032)cGc>cAc		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						41.0	48.0	46.0					6																	30860251		2203	4300	6503	SO:0001583	missense	780	0	0					g.chr6:30860251G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1031G>A	chr6.hg19:g.30860251G>A	ENSP00000318217:p.Arg344His	0					MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H	p.R344H			0	0	0	1.967613	Q08345	DDR1_HUMAN		10	1579	+			B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	1	1	hg19	c.1031G>A	CCDS34385.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557681	0.65425	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.077813	0.53938	D	0.000046	T	0.34250	0.0891	M	0.72894	2.215	0.37933	D	0.93207	D;D;D;D	0.89917	0.993;1.0;0.996;0.988	P;D;P;P	0.78314	0.481;0.991;0.872;0.517	T	0.15752	-1.0426	9	.	.	.	.	14.1192	0.65175	0.0:0.0:1.0:0.0	.	362;140;344;344	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	H	344;344;344;344;344;344;344;344;362;344;344;140;75;27	ENSP00000318217:R344H;ENSP00000407699:R344H;ENSP00000406091:R344H;ENSP00000365753:R344H;ENSP00000365759:R344H;ENSP00000365754:R344H;ENSP00000365752:R344H;ENSP00000405039:R344H;ENSP00000422442:R362H;ENSP00000365751:R344H;ENSP00000427552:R344H;ENSP00000398682:R140H;ENSP00000354844:R75H	.	R	+	2	0	0	DDR1	30968230	30968230	0.976000	0.34144	0.987000	0.45799	0.592000	0.36648	3.524000	0.53495	1.905000	0.55150	0.462000	0.41574	CGC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	0		2	2	2	0		0	0	72		72	72	1	2.060000	-2.665893	1	0.170000	NM_013994			82	81		375	363	1		1	1		0	0	72	0		1	1	0	244	0	301	0	82	375
DDR1	780	broad.mit.edu	37	6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000324771.8	+	17	2610	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537																																						ENST00000324771.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2062-2064)Ctg>Atg		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						106.0	96.0	99.0					6																	30865220		2203	4300	6503	SO:0001583	missense	780	0	0					g.chr6:30865220C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2062C>A	chr6.hg19:g.30865220C>A	ENSP00000318217:p.Leu688Met	0					DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M	p.L688M			0	0	0	1.967613	Q08345	DDR1_HUMAN		17	2610	+			B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	1	1	hg19	c.2062C>A	CCDS34385.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.436800|3.436800	0.62955|0.62955	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000484556|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90563	.|-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.39|5.39	2.66|2.66	0.31614|0.31614	5.39|5.39	2.66|2.66	0.31614|0.31614	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	.|D	.|0.90830	.|0.7120	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.89917	.|1.0;0.995;0.999;0.997;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.976;0.999;0.98;0.999	.|D	.|0.90163	.|0.4229	.|10	.|0.87932	.|D	.|0	.|.	8.9889|8.9889	0.36010|0.36010	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	.|669;152;420;694;688	.|B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	X|M	44|688;651;651;651;694;651;688;688;669;651;694;420;355	.|ENSP00000318217:L688M;ENSP00000407699:L651M;ENSP00000406091:L651M;ENSP00000365753:L651M;ENSP00000365759:L694M;ENSP00000365754:L651M;ENSP00000365752:L688M;ENSP00000405039:L688M;ENSP00000422442:L669M;ENSP00000365751:L651M;ENSP00000427552:L694M;ENSP00000398682:L420M;ENSP00000354844:L355M	.|ENSP00000318217:L688M	C|L	+|+	3|1	2|2	2|2	DDR1|DDR1	30973199|30973199	30973199|30973199	0.998000|0.998000	0.40836|0.40836	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	2.640000|2.640000	0.46579|0.46579	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	TGC|CTG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_013994			86	85		333	328	1		1	1		0	0	82	0		1	1	0	295	0	426	0	86	333
GTF2H4	2968	broad.mit.edu	37	6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	153					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592								Nucleotide excision repair (NER)																														ENST00000259895.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				11						c.(457-459)Gag>Aag	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							97.0	72.0	81.0					6																	30878524		1510	2707	4217	SO:0001583	missense	2968	0	0					g.chr6:30878524G>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.457G>A	chr6.hg19:g.30878524G>A	ENSP00000259895:p.Glu153Lys	0					GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	p.E153K	NM_001517.4	NP_001508.1	0	0	0	1.967613	Q92759	TF2H4_HUMAN		5	680	+			B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	1	1	hg19	c.457G>A	CCDS34386.1	1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774068	0.31411	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.39787	1.06;1.06;1.06	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.211455	0.37261	U	0.002171	T	0.07052	0.0179	N	0.01668	-0.77	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.008;0.008	B;B;B;B	0.15870	0.014;0.01;0.014;0.014	T	0.26608	-1.0098	10	0.06099	T	0.92	-22.7534	16.4627	0.84069	0.0:0.0:1.0:0.0	.	159;97;153;153	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	K	153;97;153	ENSP00000259895:E153K;ENSP00000442700:E97K;ENSP00000365493:E153K	ENSP00000259895:E153K	E	+	1	0	0	GTF2H4	30986503	30986503	1.000000	0.71417	0.975000	0.42487	0.535000	0.34838	4.069000	0.57541	2.747000	0.94245	0.650000	0.86243	GAG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_001517			29	30		135	131	1		1	1		0	0	39	0		1	9.999521e-01	0	19	0	58	0	29	135
VARS2	57176	broad.mit.edu	37	6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T	rs200287550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	435					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGTCTTCACCGGTTTGTGGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0					ENST00000321897.5	0.840000	0.240000	6.700000e-01	3.500000e-01	0.490000	0.515537	0.490000	0.470000																										0				46						c.(1303-1305)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							37.0	40.0	39.0					6																	30888119		2203	4300	6503	SO:0001583	missense	57176	2	121412	29				g.chr6:30888119C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1303C>T	chr6.hg19:g.30888119C>T	ENSP00000316092:p.Arg435Trp	0					VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W	p.R435W			0	0	0	1.967613	Q5ST30	SYVM_HUMAN		13	1935	+			A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	1	1	hg19	c.1303C>T	CCDS34387.1	0	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.39	3.108528	0.56291	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.27	4.27	0.50696	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.95079	3.62	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71971	-0.4431	10	0.87932	D	0	-10.3179	9.9348	0.41545	0.2031:0.7968:0.0:0.0	.	433;465;435	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	435;435;295;465	ENSP00000316092:R435W;ENSP00000394802:R435W;ENSP00000438200:R295W;ENSP00000441000:R465W	ENSP00000316092:R435W	R	+	1	2	2	VARS2	30996098	30996098	1.000000	0.71417	0.994000	0.49952	0.450000	0.32258	2.944000	0.49034	2.104000	0.64026	0.462000	0.41574	CGG	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.132655	1	0.170000	NM_020442			9	9		208	204	0		1	1		0	0	46	0		9.940170e-01	7.936654e-01	0	2	0	67	0	9	208
VARS2	57176	broad.mit.edu	37	6	30890674	30890674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582																																						ENST00000321897.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.e22-1		valyl-tRNA synthetase 2, mitochondrial							99.0	106.0	104.0					6																	30890674		1509	2708	4217	SO:0001630	splice_region_variant	57176	0	0					g.chr6:30890674G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2107-1G>T	chr6.hg19:g.30890674G>T		0					VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site				0	0	0	1.967613	Q5ST30	SYVM_HUMAN		22	2738	+			A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	1	1	hg19		CCDS34387.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341551	0.61073	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4273	0.83818	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	VARS2	30998653	30998653	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	8.836000	0.92105	2.571000	0.86741	0.561000	0.74099	.	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	1	0	1		2	2	2	0		0	0	93		93	91	1	2.060000	-20.000000	1	0.170000	NM_020442	Intron		101	100		447	437	1		1	1		0	0	93	0		1	4.524293e-01	0	7	0	1	0	101	447
DPCR1	135656	broad.mit.edu	37	6	30919785	30919785	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.R24R			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468																																						ENST00000462446.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(3544-3546)Aga>Cga		diffuse panbronchiolitis critical region 1							161.0	161.0	161.0					6																	30919785		2203	4300	6503	SO:0001819	synonymous_variant	135656	0	0					g.chr6:30919785A>C	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.3544A>C	chr6.hg19:g.30919785A>C		0					HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.R24R	p.R1182R			0	0	0	1.967613	Q3MIW9	DPCR1_HUMAN		2	3572	+			C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	1	1	hg19	c.3544A>C	CCDS4692.2	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-20.000000	1	0.170000	NM_080870			87	82		272	260	1		1	1		0	0	149	0		1	1	0	176	0	143	0	87	272
MUC21	394263	broad.mit.edu	37	6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000376296.3	+	2	1233	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	331	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617																																						ENST00000376296.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(991-993)aCc>aTc		mucin 21, cell surface associated							141.0	141.0	141.0					6																	30954944		2202	4297	6499	SO:0001583	missense	394263	0	0					g.chr6:30954944C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.992C>T	chr6.hg19:g.30954944C>T	ENSP00000365473:p.Thr331Ile	0					MUC21_ENST00000486149.2_5'UTR	p.T331I	NM_001010909.2	NP_001010909.2	0	0	0	1.967613	Q5SSG8	MUC21_HUMAN		2	1233	+			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	1	1	hg19	c.992C>T	CCDS34388.1	1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431182	0.25726	.	.	ENSG00000204544	ENST00000376296	T	0.03301	3.98	4.59	1.84	0.25277	4.59	1.84	0.25277	.	.	.	.	.	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.23018	0.043	T	0.47749	-0.9093	8	.	.	.	1.8137	7.8785	0.29608	0.0:0.7225:0.0:0.2775	.	331	Q5SSG8	MUC21_HUMAN	I	331	ENSP00000365473:T331I	.	T	+	2	0	0	MUC21	31062923	31062923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	0.272000	0.22027	-0.229000	0.12294	ACC	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	1	0	1		2	2	2	0		0	0	398		398	395	1	2.060000	-20.000000	1	0.170000	NM_001010909			269	259		1281	1226	1		1			0	0	398	0		1	0	0	0	0	0	0	269	1281
C6orf15	29113	broad.mit.edu	37	6	31079554	31079554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	194					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617																																						ENST00000259870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(580-582)cgC>cgT		chromosome 6 open reading frame 15							32.0	33.0	33.0					6																	31079554		1747	3386	5133	SO:0001819	synonymous_variant	29113	0	0					g.chr6:31079554G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.582C>T	chr6.hg19:g.31079554G>A		0						p.R194R	NM_014070.2	NP_054789.2	0	0	0	1.967613	Q6UXA7	CF015_HUMAN		2	585	-			B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	1	1	hg19	c.582C>T	CCDS4693.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_014070			60	60		222	220	1		1	0		0	0	57	0		1	0	0	0	0	1	0	60	222
C6orf15	29113	broad.mit.edu	37	6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	105					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCATGGCAGGCAGCCCCCAC	0.622																																						ENST00000259870.3	0.700000	0.250000	5.800000e-01	3.400000e-01	0.450000	0.466541	0.450000	0.440000																										0				17						c.(313-315)Cct>Tct		chromosome 6 open reading frame 15							36.0	37.0	37.0					6																	31079823		2202	4298	6500	SO:0001583	missense	29113	0	0					g.chr6:31079823G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.313C>T	chr6.hg19:g.31079823G>A	ENSP00000259870:p.Pro105Ser	0					PSORS1C1_ENST00000259881.9_5'Flank	p.P105S	NM_014070.2	NP_054789.2	0	0	0	1.967613	Q6UXA7	CF015_HUMAN		2	316	-			B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	1	1	hg19	c.313C>T	CCDS4693.1	0	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237102	0.39498	.	.	ENSG00000204542	ENST00000259870	T	0.07567	3.18	4.76	2.97	0.34412	4.76	2.97	0.34412	.	0.437572	0.20015	N	0.101037	T	0.03178	0.0093	M	0.62723	1.935	0.09310	N	1	P	0.42203	0.773	B	0.35312	0.2	T	0.30995	-0.9959	10	0.59425	D	0.04	-1.3788	6.6477	0.22945	0.2097:0.0:0.7903:0.0	.	105	Q6UXA7	CF015_HUMAN	S	105	ENSP00000259870:P105S	ENSP00000259870:P105S	P	-	1	0	0	C6orf15	31187802	31187802	0.135000	0.22499	0.075000	0.20258	0.005000	0.04900	1.678000	0.37586	1.354000	0.45846	-0.148000	0.13756	CCT	1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-4.072161	1	0.170000	NM_014070			14	13		351	345	0		1	0		0	0	69	0		9.997331e-01	0	0	0	0	1	0	14	351
C6orf15	29113	broad.mit.edu	37	6	31080049	31080049	+	Silent	SNP	G	G	A	rs145694102	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	29					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557																																						ENST00000259870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(85-87)atC>atT		chromosome 6 open reading frame 15		G		0,4276		0,0,2138	87.0	104.0	98.0		87	1.9	0.2	6	dbSNP_134	98	2,8512		0,2,4255	no	coding-synonymous	C6orf15	NM_014070.2		0,2,6393	AA,AG,GG		0.0235,0.0,0.0156		29/326	31080049	2,12788	2138	4257	6395	SO:0001819	synonymous_variant	29113	37	121218	48				g.chr6:31080049G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.87C>T	chr6.hg19:g.31080049G>A		0					PSORS1C1_ENST00000259881.9_5'Flank	p.I29I	NM_014070.2	NP_054789.2	0	0	0	1.967613	Q6UXA7	CF015_HUMAN		2	90	-			B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	1	1	hg19	c.87C>T	CCDS4693.1	1																																																																																								1.571037e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	0	0	1		16	2	2	0		0	1	93		93	91	1	2.060000	-3.260233	1	0.170000	NM_014070			74	74		354	346	1		1			0	0	93	0		1	0	0	0	0	0	0	74	354
CCHCR1	54535	broad.mit.edu	37	6	31117930	31117930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31117930G>A	ENST00000376266.5	-	8	1130	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R	CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.R425R	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	336					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTCCCGCCAGCGGTTCAGCA	0.562																																						ENST00000376266.5	1.000000	0.160000	1	2.500000e-01	0.380000	0.477544	0.380000	0.320000																										0				23						c.(1006-1008)cgC>cgT		coiled-coil alpha-helical rod protein 1							77.0	68.0	71.0					6																	31117930		2203	4300	6503	SO:0001819	synonymous_variant	54535	0	0					g.chr6:31117930G>A	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.1008C>T	chr6.hg19:g.31117930G>A		0					CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396268.3_Silent_p.R425R|CCHCR1_ENST00000396263.2_Silent_p.R336R	p.R336R	NM_019052.3	NP_061925.2	1	2	3	2.052587	Q8TD31	CCHCR_HUMAN		8	1130	-			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	0	1	hg19	c.1008C>T	CCDS4695.1	0																																																																																								1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	0	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-8.521523	1	0.170000	NM_019052			7	6		248	243	0		1	0		0	0	41	0		9.793231e-01	2.958300e-01	0	0	0	35	0	7	248
CCHCR1	54535	broad.mit.edu	37	6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000376266.5	-	6	949	c.827C>A	c.(826-828)aCc>aAc	p.T276N	CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T365N	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	276					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542																																						ENST00000376266.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(826-828)aCc>aAc		coiled-coil alpha-helical rod protein 1							260.0	236.0	244.0					6																	31118509		1511	2709	4220	SO:0001583	missense	54535	0	0					g.chr6:31118509G>T	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.827C>A	chr6.hg19:g.31118509G>T	ENSP00000365442:p.Thr276Asn	0					CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T365N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N	p.T276N	NM_019052.3	NP_061925.2	1	2	3	2.052587	Q8TD31	CCHCR_HUMAN		6	949	-			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	1	1	hg19	c.827C>A	CCDS4695.1	1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.761136	0.31137	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.61	3.73	0.42828	4.61	3.73	0.42828	.	0.292352	0.30244	N	0.010072	T	0.07098	0.0180	M	0.72118	2.19	0.21290	N	0.999733	D;D;D;D;D	0.67145	0.991;0.966;0.992;0.991;0.996	P;P;P;P;P	0.62740	0.898;0.773;0.906;0.898;0.892	T	0.20075	-1.0286	10	0.30854	T	0.27	-5.6321	10.5851	0.45278	0.0:0.0:0.8099:0.1901	.	276;276;276;329;365	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	N	365;276;276;276;329	ENSP00000379566:T365N;ENSP00000365442:T276N;ENSP00000379561:T276N;ENSP00000401039:T329N	ENSP00000365442:T276N	T	-	2	0	0	CCHCR1	31226488	31226488	0.060000	0.20803	0.615000	0.29064	0.089000	0.18198	1.653000	0.37323	0.950000	0.37743	-2.180000	0.00316	ACC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	1	0	1		2	2	2	0		0	0	248		248	245	1	2.060000	-20.000000	1	0.170000	NM_019052			254	246		947	925	1		1	1		0	0	248	0		1	9.985200e-01	0	15	0	23	0	254	947
TCF19	6941	broad.mit.edu	37	6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	325					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627																																						ENST00000376257.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(973-975)aGc>aTc		transcription factor 19							45.0	55.0	52.0					6																	31130430		1431	2650	4081	SO:0001583	missense	6941	0	0					g.chr6:31130430G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.974G>T	chr6.hg19:g.31130430G>T	ENSP00000365433:p.Ser325Ile	0					TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	p.S325I	NM_007109.2	NP_009040.2	1	2	3	2.052587	Q9Y242	TCF19_HUMAN		4	1728	+			A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	1	1	hg19	c.974G>T	CCDS43446.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119860	0.77323	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.85258	-1.96;-1.96	4.85	3.96	0.45880	4.85	3.96	0.45880	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);	1.639190	0.03436	N	0.208510	D	0.90184	0.6932	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81949	-0.0699	10	0.87932	D	0	-42.3361	11.364	0.49660	0.0912:0.0:0.9088:0.0	.	325	Q9Y242	TCF19_HUMAN	I	325	ENSP00000365433:S325I;ENSP00000365431:S325I	ENSP00000365431:S325I	S	+	2	0	0	TCF19	31238409	31238409	0.970000	0.33590	1.000000	0.80357	0.991000	0.79684	1.626000	0.37039	2.518000	0.84900	0.542000	0.68232	AGC	1.865935e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_007109			64	64		265	261	1		1	1		0	0	64	0		1	9.826692e-01	0	6	0	23	0	64	265
LTB	4050	broad.mit.edu	37	6	31548600	31548600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	207					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CCAGGCCGCCGAACCCCACGC	0.662																																						ENST00000429299.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(619-621)ttC>ttT		lymphotoxin beta (TNF superfamily, member 3)							46.0	30.0	36.0					6																	31548600		1510	2709	4219	SO:0001819	synonymous_variant	4050	0	0					g.chr6:31548600G>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.621C>T	chr6.hg19:g.31548600G>A		0					LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	p.F207F	NM_002341.1	NP_002332.1	0	0	0	1.973144	Q06643	TNFC_HUMAN		4	628	-			P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	1	1	hg19	c.621C>T	CCDS4703.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				40	39		125	120	1		1	1		0	0	31	0		1	9.999918e-01	0	7	0	54	0	40	125
C6orf47	57827	broad.mit.edu	37	6	31626860	31626860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	ENST00000375911.1	-	1	1689	c.865G>A	c.(865-867)Gac>Aac	p.D289N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	289						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTTCCCGGGTCTCCCCTCTGC	0.602																																						ENST00000375911.1	0.690000	0.350000	6.100000e-01	4.200000e-01	0.500000	0.519324	0.500000	0.500000																										0				9						c.(865-867)Gac>Aac		chromosome 6 open reading frame 47							87.0	94.0	92.0					6																	31626860		1509	2708	4217	SO:0001583	missense	57827	0	0					g.chr6:31626860C>T	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.865G>A	chr6.hg19:g.31626860C>T	ENSP00000365076:p.Asp289Asn	0					C6orf47-AS1_ENST00000422049.1_RNA	p.D289N	NM_021184.3	NP_067007.3	0	0	0	1.973144	O95873	CF047_HUMAN		1	1689	-			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	1	1	hg19	c.865G>A	CCDS34399.1	0	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377454	0.42105	.	.	ENSG00000204439	ENST00000375911	T	0.34275	1.37	5.57	4.7	0.59300	5.57	4.7	0.59300	.	0.204062	0.28365	N	0.015617	T	0.13072	0.0317	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.03287	-1.1052	10	0.31617	T	0.26	-4.1094	10.8769	0.46917	0.0:0.9103:0.0:0.0897	.	289	O95873	CF047_HUMAN	N	289	ENSP00000365076:D289N	ENSP00000365076:D289N	D	-	1	0	0	C6orf47	31734839	31734839	0.081000	0.21417	0.951000	0.38953	0.913000	0.54294	1.516000	0.35856	2.633000	0.89246	0.650000	0.86243	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	0	0	1		16	2	2	1		1	1	157		157	154	1	2.060000	-4.856392	1	0.170000	NM_021184			31	29		678	641	0		1	0		1	0	157	0		9.858270e-01	2.440505e-01	0	0	0	21	0	31	678
VARS	7407	broad.mit.edu	37	6	31749480	31749480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	802					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607																																						ENST00000375663.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				30						c.(2404-2406)ggC>ggA		valyl-tRNA synthetase	L-Valine(DB00161)						42.0	45.0	44.0					6																	31749480		1509	2708	4217	SO:0001819	synonymous_variant	7407	0	0					g.chr6:31749480G>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2406C>A	chr6.hg19:g.31749480G>T		0					VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	p.G802G	NM_006295.2	NP_006286.1	0	0	0	1.973144	P26640	SYVC_HUMAN		20	2846	-			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	1	1	hg19	c.2406C>A	CCDS34412.1	1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569406	0.13560	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	3.61	0.41365	5.64	3.61	0.41365	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	4	.	.	.	-24.8287	13.7946	0.63164	0.0:0.0:0.712:0.288	.	.	.	.	M	120	.	.	L	-	1	2	2	VARS	31857459	31857459	0.970000	0.33590	1.000000	0.80357	0.791000	0.44710	-0.035000	0.12205	1.333000	0.45449	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	1	0	1		2	2	2	0		0	0	56		56	50	1	2.060000	-3.084063	1	0.170000	NM_006295			46	46		256	250	1		1	1		0	0	56	0		1	1	0	50	0	131	0	46	256
VARS	7407	broad.mit.edu	37	6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637																																						ENST00000375663.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2272-2274)Cgc>Tgc		valyl-tRNA synthetase	L-Valine(DB00161)						126.0	144.0	138.0					6																	31749699		1511	2709	4220	SO:0001583	missense	7407	0	0					g.chr6:31749699G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2272C>T	chr6.hg19:g.31749699G>A	ENSP00000364815:p.Arg758Cys	0					VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	p.R758C	NM_006295.2	NP_006286.1	0	0	0	1.973144	P26640	SYVC_HUMAN		19	2712	-			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	1	1	hg19	c.2272C>T	CCDS34412.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.928076|1.928076	0.34002|0.34002	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.22743|.	1.94|.	5.51|5.51	4.62|4.62	0.57501|0.57501	5.51|5.51	4.62|4.62	0.57501|0.57501	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.162696|.	0.52532|.	D|.	0.000074|.	D|D	0.82527|0.82527	0.5056|0.5056	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.87932|.	D|.	0|.	-15.5475|-15.5475	13.9063|13.9063	0.63839|0.63839	0.0:0.1538:0.8462:0.0|0.0:0.1538:0.8462:0.0	.|.	758|.	P26640|.	SYVC_HUMAN|.	C|M	758|75	ENSP00000364815:R758C|.	ENSP00000364815:R758C|.	R|T	-|-	1|2	0|0	0|0	VARS|VARS	31857678|31857678	31857678|31857678	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.703000|0.703000	0.40648|0.40648	1.445000|1.445000	0.35079|0.35079	1.290000|1.290000	0.44636|0.44636	0.563000|0.563000	0.77884|0.77884	CGC|ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	0	0	1		18	5	2	1		1	1	202		202	200	1	2.060000	-20.000000	1	0.170000	NM_006295			190	185		885	867	1		1	1		1	0	202	0		1	1	0	45	0	127	0	190	885
HSPA1A	3303	broad.mit.edu	37	6	31785396	31785396	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000608703.1_Silent_p.G456G|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	621					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587																																						ENST00000375651.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(1861-1863)ggC>ggT		heat shock 70kDa protein 1A							59.0	66.0	64.0					6																	31785396		1735	3531	5266	SO:0001819	synonymous_variant	3303	0	0					g.chr6:31785396C>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1863C>T	chr6.hg19:g.31785396C>T		0					HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.G456G	p.G621G	NM_005345.5	NP_005336.3	0	0	0	1.973144	P08107	HSP71_HUMAN		1	2106	+			B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	1	1	hg19	c.1863C>T	CCDS34414.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				98	98		439	430	1		1	0		0	0	81	0		1	1	0	1	0	134	0	98	439
SLC44A4	80736	broad.mit.edu	37	6	31832662	31832662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000229729.6	-	19	1877	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SLC44A4_ENST00000375562.4_Silent_p.S577S|SLC44A4_ENST00000544672.1_Silent_p.S543S|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	619					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572																																						ENST00000229729.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				35						c.(1855-1857)tcC>tcT		solute carrier family 44, member 4	Choline(DB00122)						33.0	41.0	38.0					6																	31832662		2203	4300	6503	SO:0001819	synonymous_variant	80736	0	0					g.chr6:31832662G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1857C>T	chr6.hg19:g.31832662G>A		0					SLC44A4_ENST00000544672.1_Silent_p.S543S|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Silent_p.S577S	p.S619S	NM_025257.2	NP_079533.2	0	0	0	1.973144	Q53GD3	CTL4_HUMAN		19	1877	-			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	1	1	hg19	c.1857C>T	CCDS4724.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-19.975050	1	0.170000				36	35		154	147	1		1	1		0	0	35	0		1	1	0	359	0	386	0	36	154
EHMT2	10919	broad.mit.edu	37	6	31851172	31851172	+	Silent	SNP	G	G	A	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000375537.4	-	23	2967	c.2961C>T	c.(2959-2961)tgC>tgT	p.C987C	EHMT2_ENST00000395728.3_Silent_p.C1044C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	987	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAGCTGGCCGCACAGGCAGT	0.632													G|||	6	0.00119808	0.0	0.0043	5008	,	,		20855	0.0		0.003	False		,,,				2504	0.0					ENST00000375537.4	1.000000	0.520000	1	7.100000e-01	0.960000	0.888519	0.960000	1.000000																										0				21						c.(2959-2961)tgC>tgT		euchromatic histone-lysine N-methyltransferase 2		G	,	0,3018		0,0,1509	51.0	39.0	43.0		2961,2859	-9.0	0.7	6	dbSNP_134	43	8,5410		0,8,2701	yes	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,8,4210	AA,AG,GG		0.1477,0.0,0.0948	,	987/1211,953/1177	31851172	8,8428	1509	2709	4218	SO:0001819	synonymous_variant	10919	109	119464	49				g.chr6:31851172G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2961C>T	chr6.hg19:g.31851172G>A		0					EHMT2_ENST00000395728.3_Silent_p.C1044C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2-AS1_ENST00000434689.1_RNA	p.C987C	NM_006709.3	NP_006700.3	0	0	0	1.973144	Q96KQ7	EHMT2_HUMAN		23	2967	-			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	1	0	hg19	c.2961C>T	CCDS4725.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.142283	1	0.170000	NM_006709			11	11		122	118	0		1	1		0	0	26	0		9.982960e-01	9.977883e-01	0	22	0	102	0	11	122
EHMT2	10919	broad.mit.edu	37	6	31852264	31852264	+	Silent	SNP	G	G	A	rs147102570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852264G>A	ENST00000375537.4	-	21	2682	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	EHMT2_ENST00000395728.3_Silent_p.P949P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	892					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGAGCGCTCGGGAGTCAGGT	0.597																																						ENST00000375537.4	0.370000	0.140000	3.100000e-01	1.900000e-01	0.240000	0.254960	0.240000	0.240000																										0				21						c.(2674-2676)ccC>ccT		euchromatic histone-lysine N-methyltransferase 2		G	,	1,3021		0,1,1510	152.0	146.0	148.0		2676,2574	-10.3	0.0	6	dbSNP_134	148	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	,	892/1211,858/1177	31852264	1,8439	1511	2709	4220	SO:0001819	synonymous_variant	10919	4	118418	40				g.chr6:31852264G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2676C>T	chr6.hg19:g.31852264G>A		0					EHMT2_ENST00000395728.3_Silent_p.P949P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2-AS1_ENST00000434689.1_RNA	p.P892P	NM_006709.3	NP_006700.3	0	0	0	1.973144	Q96KQ7	EHMT2_HUMAN		21	2682	-			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	1	1	hg19	c.2676C>T	CCDS4725.1	0	.	.	.	.	.	.	.	.	.	.	G	0.890	-0.725741	0.03158	3.31E-4	0.0	ENSG00000204371	ENST00000436026	.	.	.	5.14	-10.3	0.00346	5.14	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.35661	D	0.812562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.10416	0.1643:0.257:0.4425:0.1362	.	.	.	.	X	223	.	.	R	-	1	2	2	EHMT2	31960243	31960243	0.000000	0.05858	0.024000	0.17045	0.110000	0.19582	-7.061000	0.00045	-4.452000	0.00048	-1.219000	0.01604	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	0	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-1.803099	0	0.170000	NM_006709			18	18		841	821	0		1	1		0	0	148	0		9.999771e-01	7.086382e-01	0	10	0	106	0	18	841
EHMT2	10919	broad.mit.edu	37	6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000375537.4	-	19	2411	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	EHMT2_ENST00000395728.3_Missense_Mutation_p.R859H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	802					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGTAGCATGCGGATCACCTC	0.657																																						ENST00000375537.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.992469	0.990000	1.000000																										0				21						c.(2404-2406)cGc>cAc		euchromatic histone-lysine N-methyltransferase 2							75.0	62.0	67.0					6																	31852732		2203	4300	6503	SO:0001583	missense	10919	0	0					g.chr6:31852732C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2405G>A	chr6.hg19:g.31852732C>T	ENSP00000364687:p.Arg802His	0					EHMT2_ENST00000395728.3_Missense_Mutation_p.R859H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2-AS1_ENST00000434689.1_RNA	p.R802H	NM_006709.3	NP_006700.3	0	0	0	1.973144	Q96KQ7	EHMT2_HUMAN		19	2411	-			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	0	1	hg19	c.2405G>A	CCDS4725.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548211	0.86127	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.28	4.28	0.50868	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.064020	0.64402	D	0.000011	T	0.49525	0.1562	L	0.55481	1.735	0.46981	D	0.999273	P;P;P;P	0.47350	0.894;0.87;0.894;0.743	B;B;B;B	0.41571	0.189;0.119;0.273;0.36	T	0.60969	-0.7157	10	0.66056	D	0.02	.	16.003	0.80308	0.0:1.0:0.0:0.0	.	825;768;802;616	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	859;825;768;802;616	ENSP00000379078:R859H;ENSP00000364678:R825H;ENSP00000364680:R768H;ENSP00000364687:R802H	ENSP00000364678:R825H	R	-	2	0	0	EHMT2	31960711	31960711	0.397000	0.25270	1.000000	0.80357	0.993000	0.82548	0.769000	0.26604	2.382000	0.81193	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	0	0	1		2	6	2	1		1	0	66		66	66	1	2.060000	-2.774732	1	0.170000	NM_006709			32	32		264	261	1		1	1		1	0	66	0		1	8.451152e-01	0	12	0	66	0	32	264
EHMT2	10919	broad.mit.edu	37	6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000375537.4	-	7	755	c.749C>T	c.(748-750)aCc>aTc	p.T250I	EHMT2_ENST00000395728.3_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	250					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542																																						ENST00000375537.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(748-750)aCc>aTc		euchromatic histone-lysine N-methyltransferase 2							57.0	53.0	55.0					6																	31860299		1510	2709	4219	SO:0001583	missense	10919	0	0					g.chr6:31860299G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.749C>T	chr6.hg19:g.31860299G>A	ENSP00000364687:p.Thr250Ile	0					EHMT2_ENST00000395728.3_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I	p.T250I	NM_006709.3	NP_006700.3	0	0	0	1.973144	Q96KQ7	EHMT2_HUMAN		7	755	-			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	1	1	hg19	c.749C>T	CCDS4725.1	1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873501	0.33069	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.46;-0.45;-0.41;-0.47	4.88	3.07	0.35406	4.88	3.07	0.35406	.	0.284204	0.25581	N	0.029689	T	0.24431	0.0592	N	0.08118	0	0.26303	N	0.97794	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.14868	-1.0457	10	0.32370	T	0.25	.	6.3179	0.21200	0.3064:0.0:0.6936:0.0	.	307;250;250;64	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	307;307;250;250;64	ENSP00000379078:T307I;ENSP00000364678:T307I;ENSP00000364680:T250I;ENSP00000364687:T250I	ENSP00000364678:T307I	T	-	2	0	0	EHMT2	31968278	31968278	0.149000	0.22717	1.000000	0.80357	0.835000	0.47333	0.373000	0.20484	0.758000	0.33059	0.591000	0.81541	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_006709			49	48		247	240	1		1	1		0	0	74	0		1	9.999805e-01	0	15	0	69	0	49	247
C2	717	broad.mit.edu	37	6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000299367.5	+	1	319	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000456570.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	15					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)			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)		GTTCCTGTACCCAGGTAGGAG	0.567																																						ENST00000299367.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(43-45)Cca>Aca		complement component 2							199.0	231.0	219.0					6																	31895572		1511	2709	4220	SO:0001583	missense	717	0	0					g.chr6:31895572C>A		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.43C>A	chr6.hg19:g.31895572C>A	ENSP00000299367:p.Pro15Thr	0					C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|CFB_ENST00000456570.1_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T	p.P15T	NM_000063.4	NP_000054.2	0	0	0	1.973144	P06681	CO2_HUMAN		1	319	+		Ovarian(999;0.00965)	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	1	0	hg19	c.43C>A	CCDS4728.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069252	0.55539	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;D;T;T;D;D;D	0.87103	1.47;-1.43;-2.21;1.29;1.3;-1.57;-1.57;-1.55	5.75	2.86	0.33363	5.75	2.86	0.33363	.	0.403728	0.18365	N	0.143459	T	0.49983	0.1589	.	.	.	0.80722	D	1	B;B;B;B;B	0.27853	0.0;0.001;0.001;0.0;0.191	B;B;B;B;B	0.29267	0.001;0.002;0.002;0.002;0.1	T	0.54302	-0.8314	9	0.02654	T	1	-0.4943	5.4073	0.16328	0.1386:0.6258:0.1515:0.0841	.	15;15;15;15;15	B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;CO2_HUMAN;.	T	15	ENSP00000403325:P15T;ENSP00000299367:P15T;ENSP00000395683:P15T;ENSP00000391354:P15T;ENSP00000406190:P15T;ENSP00000451848:P15T;ENSP00000410815:P15T;ENSP00000418996:P15T	ENSP00000299367:P15T	P	+	1	0	0	CFB;C2;XXbac-BPG116M5.17	32003551	32003551	0.474000	0.25886	0.999000	0.59377	0.723000	0.41478	0.451000	0.21779	0.804000	0.34136	-0.122000	0.15005	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9	1	0	0		2	2	2	0		0	0	260		260	256	1	2.060000	-20.000000	1	0.170000				205	202		1069	1051	1		1	1		0	0	260	0		1	1	0	17	0	286	0	205	1069
C2	717	broad.mit.edu	37	6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000299367.5	+	8	1298	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000456570.1_Missense_Mutation_p.A188V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|C2_ENST00000469372.1_Missense_Mutation_p.A95V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	341	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)			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)		AACACCTATGCGGCCTTAAAC	0.478																																						ENST00000299367.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1021-1023)gCg>gTg		complement component 2							179.0	174.0	176.0					6																	31905129		1511	2709	4220	SO:0001583	missense	717	0	0					g.chr6:31905129C>T		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.1022C>T	chr6.hg19:g.31905129C>T	ENSP00000299367:p.Ala341Val	0					C2_ENST00000469372.1_Missense_Mutation_p.A95V|CFB_ENST00000456570.1_Missense_Mutation_p.A188V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000442278.2_Missense_Mutation_p.A209V	p.A341V	NM_000063.4	NP_000054.2	0	0	0	1.973144	P06681	CO2_HUMAN		8	1298	+		Ovarian(999;0.00965)	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	1	0	hg19	c.1022C>T	CCDS4728.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527494|1.527494	0.27299|0.27299	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	D;D;D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	4.97|4.97	-0.3|-0.3	0.12804|0.12804	4.97|4.97	-0.3|-0.3	0.12804|0.12804	von Willebrand factor, type A (3);|.	1.092690|.	0.07188|.	N|.	0.855182|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B|.	0.35363|.	0.497;0.21;0.103;0.028;0.094;0.094;0.031;0.103|.	B;B;B;B;B;B;B;B|.	0.28139|.	0.036;0.008;0.012;0.007;0.012;0.012;0.086;0.005|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.46703|.	T|.	0.11|.	-4.707|-4.707	6.1284|6.1284	0.20192|0.20192	0.376:0.4561:0.168:0.0|0.376:0.4561:0.168:0.0	.|.	188;312;127;95;209;209;341;128|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;CO2_HUMAN;.|.	V|W	95;128;128;127;341;26;209;188;188;159|115	ENSP00000418923:A95V;ENSP00000417482:A128V;ENSP00000392322:A127V;ENSP00000299367:A341V;ENSP00000395683:A209V;ENSP00000451848:A188V;ENSP00000410815:A188V;ENSP00000418996:A159V|.	ENSP00000299367:A341V|.	A|R	+|+	2|1	0|2	0|2	CFB;C2;XXbac-BPG116M5.17|C2	32013108|32013108	32013108|32013108	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.018000|0.018000	0.13422|0.13422	0.073000|0.073000	0.16731|0.16731	-0.433000|-0.433000	0.05886|0.05886	GCG|CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-3.319286	1	0.170000				91	89		511	504	1		1	1		0	0	125	0		1	1	0	19	0	359	0	91	511
CFB	629	broad.mit.edu	37	6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000425368.2	+	3	995	c.482G>A	c.(481-483)gGa>gAa	p.G161E	CFB_ENST00000556679.1_Missense_Mutation_p.G663E|CFB_ENST00000456570.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	161					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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597																																						ENST00000425368.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(481-483)gGa>gAa		complement factor B							59.0	63.0	62.0					6																	31914967		1511	2709	4220	SO:0001583	missense	629	0	0					g.chr6:31914967G>A	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.482G>A	chr6.hg19:g.31914967G>A	ENSP00000416561:p.Gly161Glu	0					CFB_ENST00000456570.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E	p.G161E	NM_001710.5	NP_001701.2	0	0	0	1.973144	P00751	CFAB_HUMAN		3	995	+			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	1	1	hg19	c.482G>A	CCDS4729.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511718	0.64522	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;T;D;T	0.81579	-1.51;-1.4;-1.51;-1.47	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000239	D	0.83505	0.5269	L	0.43646	1.37	0.43678	D	0.996116	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-13.6748	16.3637	0.83296	0.0:0.0:1.0:0.0	.	663;161;161	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	E	663;161;663;512	ENSP00000451848:G663E;ENSP00000416561:G161E;ENSP00000410815:G663E;ENSP00000418996:G512E	ENSP00000416561:G161E	G	+	2	0	0	CFB;XXbac-BPG116M5.17	32022946	32022946	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.102000	0.64572	2.404000	0.81709	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_001710			70	69		310	307	1		1	1		0	0	73	0		1	1	0	377	0	703	0	70	310
SKIV2L	6499	broad.mit.edu	37	6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592																																						ENST00000375394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1093-1095)Ctg>Atg		superkiller viralicidic activity 2-like (S. cerevisiae)							85.0	76.0	79.0					6																	31930244		2203	4300	6503	SO:0001583	missense	6499	0	0					g.chr6:31930244C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1093C>A	chr6.hg19:g.31930244C>A	ENSP00000364543:p.Leu365Met	0					SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	p.L365M	NM_006929.4	NP_008860.4	0	0	0	1.973144	Q15477	SKIV2_HUMAN		11	1206	+			O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	1	1	hg19	c.1093C>A	CCDS4731.1	1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753928	0.69648	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47528	0.84;0.84	5.49	3.7	0.42460	5.49	3.7	0.42460	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.76428	0.3986	H	0.99806	4.795	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.81581	-0.0867	10	0.87932	D	0	-11.2948	8.7438	0.34573	0.0:0.7618:0.0:0.2382	.	365	Q15477	SKIV2_HUMAN	M	365;207;172	ENSP00000364543:L365M;ENSP00000442645:L172M	ENSP00000364543:L365M	L	+	1	2	2	SKIV2L	32038223	32038223	0.423000	0.25482	0.999000	0.59377	0.996000	0.88848	1.010000	0.29898	0.678000	0.31325	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-3.249117	1	0.170000				66	66		268	262	1		1	1		0	0	82	0		1	9.999992e-01	0	27	0	59	0	66	268
SKIV2L	6499	broad.mit.edu	37	6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	392	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572																																						ENST00000375394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1174-1176)gaG>gaT		superkiller viralicidic activity 2-like (S. cerevisiae)							60.0	56.0	57.0					6																	31930327		2203	4300	6503	SO:0001583	missense	6499	0	0					g.chr6:31930327G>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1176G>T	chr6.hg19:g.31930327G>T	ENSP00000364543:p.Glu392Asp	0					SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	p.E392D	NM_006929.4	NP_008860.4	0	0	0	1.973144	Q15477	SKIV2_HUMAN		11	1289	+			O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	1	1	hg19	c.1176G>T	CCDS4731.1	1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958804	0.34565	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	-0.429	0.12303	5.49	-0.429	0.12303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056470	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05280	-0.08	0.40523	D	0.980855	B	0.13145	0.007	B	0.10450	0.005	T	0.03249	-1.1056	10	0.21014	T	0.42	-25.6916	2.1569	0.03814	0.409:0.1223:0.3444:0.1242	.	392	Q15477	SKIV2_HUMAN	D	392;234;199	ENSP00000364543:E392D;ENSP00000442645:E199D	ENSP00000364543:E392D	E	+	3	2	2	SKIV2L	32038306	32038306	0.883000	0.30277	0.870000	0.34147	0.700000	0.40528	-0.036000	0.12185	-0.014000	0.14175	-0.345000	0.07892	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000				49	48		206	201	1		1	1		0	0	63	0		1	9.999962e-01	0	18	0	64	0	49	206
SKIV2L	6499	broad.mit.edu	37	6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	730	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622																																						ENST00000375394.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				4						c.(2188-2190)Cac>Tac		superkiller viralicidic activity 2-like (S. cerevisiae)							20.0	17.0	18.0					6																	31933776		1506	2707	4213	SO:0001583	missense	6499	0	0					g.chr6:31933776C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2188C>T	chr6.hg19:g.31933776C>T	ENSP00000364543:p.His730Tyr	0					SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	p.H730Y	NM_006929.4	NP_008860.4	0	0	0	1.973144	Q15477	SKIV2_HUMAN		18	2301	+			O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	0	1	hg19	c.2188C>T	CCDS4731.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910495	0.92107	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.42	5.42	0.78866	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.17278	0.47	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.37549	-0.9701	10	0.62326	D	0.03	-23.8527	17.9769	0.89130	0.0:1.0:0.0:0.0	.	730	Q15477	SKIV2_HUMAN	Y	730;572;537	ENSP00000364543:H730Y;ENSP00000442645:H537Y	ENSP00000364543:H730Y	H	+	1	0	0	SKIV2L	32041755	32041755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.427000	0.73378	2.545000	0.85829	0.655000	0.94253	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000				25	24		92	92	0		1	1		0	0	9	0		9.999999e-01	9.999862e-01	0	21	0	52	0	25	92
SKIV2L	6499	broad.mit.edu	37	6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	989					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632																																						ENST00000375394.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(2965-2967)Cag>Gag		superkiller viralicidic activity 2-like (S. cerevisiae)							62.0	75.0	70.0					6																	31936211		1509	2707	4216	SO:0001583	missense	6499	0	0					g.chr6:31936211C>G		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2965C>G	chr6.hg19:g.31936211C>G	ENSP00000364543:p.Gln989Glu	0					DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	p.Q989E	NM_006929.4	NP_008860.4	0	0	0	1.973144	Q15477	SKIV2_HUMAN		24	3078	+			O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	1	1	hg19	c.2965C>G	CCDS4731.1	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878536	0.33162	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46451	0.99;0.87	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.164519	0.56097	D	0.000030	T	0.32406	0.0828	L	0.50333	1.59	0.37894	D	0.930823	P	0.43542	0.81	B	0.43478	0.421	T	0.09796	-1.0658	10	0.37606	T	0.19	-22.6152	17.7336	0.88386	0.0:1.0:0.0:0.0	.	989	Q15477	SKIV2_HUMAN	E	989;831;796	ENSP00000364543:Q989E;ENSP00000442645:Q796E	ENSP00000364543:Q989E	Q	+	1	0	0	SKIV2L	32044190	32044190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.549000	0.85964	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				91	91		457	450	1		1	1		0	0	111	0		1	9.998260e-01	0	20	0	45	0	91	457
TNXB	7148	broad.mit.edu	37	6	32010286	32010286	+	Silent	SNP	G	G	A	rs199762902	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32010286G>A	ENST00000375244.3	-	40	12357	c.12156C>T	c.(12154-12156)cgC>cgT	p.R4052R	TNXB_ENST00000451343.1_Silent_p.R481R|TNXB_ENST00000375247.2_Silent_p.R4050R			P22105	TENX_HUMAN	tenascin XB	4097	Fibronectin type-III 32. {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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCGCTCGCGGTTGCCGT	0.667																																						ENST00000375244.3	0.860000	0.300000	7.100000e-01	4.100000e-01	0.540000	0.565936	0.540000	0.530000																										0				8						c.(12154-12156)cgC>cgT		tenascin XB							48.0	40.0	43.0					6																	32010286		1511	2709	4220	SO:0001819	synonymous_variant	7148	0	0					g.chr6:32010286G>A	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.12156C>T	chr6.hg19:g.32010286G>A		0					TNXB_ENST00000375247.2_Silent_p.R4050R|TNXB_ENST00000451343.1_Silent_p.R481R	p.R4052R			0	0	0	1.973144	P22105	TENX_HUMAN		40	12357	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	1	0	hg19	c.12156C>T		0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-1.518306	0	0.170000	NM_019105			13	12		267	264	0		1	0		0	0	46	0		9.995237e-01	6.046039e-01	0	0	0	42	0	13	267
TNXB	7148	broad.mit.edu	37	6	32016159	32016159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.V3340V			P22105	TENX_HUMAN	tenascin XB	3387	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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCCACAGGGACTGGGCCGT	0.667																																						ENST00000375244.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				8						c.(10024-10026)gtC>gtT		tenascin XB							23.0	28.0	26.0					6																	32016159		1965	4132	6097	SO:0001819	synonymous_variant	7148	0	0					g.chr6:32016159G>A	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.10026C>T	chr6.hg19:g.32016159G>A		0					TNXB_ENST00000375247.2_Silent_p.V3340V|TNXB_ENST00000451343.1_5'Flank	p.V3342V			0	0	0	1.973144	P22105	TENX_HUMAN		29	10227	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	1	1	hg19	c.10026C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-19.811770	1	0.170000	NM_019105			31	31		124	122	1		1	0		0	0	44	0		1	8.288424e-01	0	1	0	14	0	31	124
TNXB	7148	broad.mit.edu	37	6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G	rs548583752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L			P22105	TENX_HUMAN	tenascin XB	3373	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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGAGCAGGAACTTGTACTTG	0.687																																						ENST00000375244.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999237	0.990000	1.000000																										0				8						c.(9982-9984)Ttc>Ctc		tenascin XB							25.0	30.0	28.0					6																	32016203		1953	4119	6072	SO:0001583	missense	7148	0	0					g.chr6:32016203A>G	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.9982T>C	chr6.hg19:g.32016203A>G	ENSP00000364393:p.Phe3328Leu	0					TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L|TNXB_ENST00000451343.1_5'Flank	p.F3328L			0	0	0	1.973144	P22105	TENX_HUMAN		29	10183	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	1	1	hg19	c.9982T>C		1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372198	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59906	0.23;0.23	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.724493	0.12437	N	0.469004	T	0.39963	0.1098	M	0.67700	2.07	0.26896	N	0.967218	P	0.41131	0.739	B	0.40901	0.343	T	0.25984	-1.0116	10	0.38643	T	0.18	.	9.0473	0.36354	0.8142:0.1858:0.0:0.0	.	3326	P22105-3	.	L	3328;3326	ENSP00000364393:F3328L;ENSP00000364396:F3326L	ENSP00000364393:F3328L	F	-	1	0	0	TNXB	32124181	32124181	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	2.749000	0.47492	1.819000	0.53055	0.402000	0.26972	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	0		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_019105			24	23		145	142	1		1	1		0	0	55	0		9.999998e-01	6.551533e-01	0	5	0	10	0	24	145
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17. {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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647																																						ENST00000375244.3	0.640000	0.340000	5.700000e-01	4.100000e-01	0.480000	0.494244	0.480000	0.480000																										0				8						c.(7456-7458)Cgg>Tgg		tenascin XB							104.0	120.0	115.0					6																	32029210		1315	2567	3882	SO:0001583	missense	7148	4	120762	43				g.chr6:32029210G>A	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.7456C>T	chr6.hg19:g.32029210G>A	ENSP00000364393:p.Arg2486Trp	0					TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W	p.R2486W			0	0	0	1.973144	P22105	TENX_HUMAN		21	7657	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	1	1	hg19	c.7456C>T		0	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	2	TNXB	32137188	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1		2	2	2	0		0	0	124		124	128	1	2.060000	-3.989037	1	0.170000	NM_019105			38	36		872	846	0		1	0		0	0	124	0		1	4.381667e-02	0	0	0	8	0	38	872
TNXB	7148	broad.mit.edu	37	6	32036330	32036330	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB	2101	Fibronectin type-III 12. {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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.607																																						ENST00000375244.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				8						c.(6055-6057)gtC>gtT		tenascin XB							42.0	45.0	44.0					6																	32036330		2006	4171	6177	SO:0001819	synonymous_variant	7148	0	0					g.chr6:32036330G>A	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.6057C>T	chr6.hg19:g.32036330G>A		0					TNXB_ENST00000375247.2_Silent_p.V2019V	p.V2019V			0	0	0	1.973144	P22105	TENX_HUMAN		17	6258	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	1	1	hg19	c.6057C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.939670	1	0.170000	NM_019105			38	38		184	181	1		1	1		0	0	49	0		1	7.850400e-01	0	3	0	13	0	38	184
TNXB	7148	broad.mit.edu	37	6	32052335	32052335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB	1187	Fibronectin type-III 3. {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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGCCCGTCCCTGTCTT	0.617																																						ENST00000375244.3	1.000000	0.750000	1	9.600000e-01	0.990000	0.975935	0.990000	1.000000																										0				8						c.(3298-3300)gaC>gaT		tenascin XB							34.0	38.0	36.0					6																	32052335		1347	2574	3921	SO:0001819	synonymous_variant	7148	1	120056	33				g.chr6:32052335G>A	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.3300C>T	chr6.hg19:g.32052335G>A		0					TNXB_ENST00000375247.2_Silent_p.D1100D	p.D1100D			0	0	0	1.973144	P22105	TENX_HUMAN		8	3501	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	1	1	hg19	c.3300C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-8.630310	1	0.170000	NM_019105			17	17		144	143	1		1	0		0	0	36	0		9.999728e-01	3.456211e-01	0	1	0	10	0	17	144
TNXB	7148	broad.mit.edu	37	6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000479795.1	-	3	2143	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375244.3_Missense_Mutation_p.L668P|TNXB_ENST00000375247.2_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB	668	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTGGCACAGGCACACTCC	0.721																																						ENST00000479795.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998470	0.990000	1.000000																										0				8						c.(2002-2004)cTg>cCg		tenascin XB							15.0	17.0	17.0					6																	32063627		2129	4234	6363	SO:0001583	missense	7148	0	0					g.chr6:32063627A>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2003T>C	chr6.hg19:g.32063627A>G	ENSP00000418248:p.Leu668Pro	0					TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000375244.3_Missense_Mutation_p.L668P	p.L668P			0	0	0	1.973144	P22105	TENX_HUMAN		3	2143	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	1	1	hg19	c.2003T>C		1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413962	0.25465	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.07688	3.88;3.88;3.17	4.25	1.74	0.24563	4.25	1.74	0.24563	.	1.326850	0.05510	N	0.560107	T	0.09818	0.0241	M	0.72894	2.215	0.39173	D	0.962636	P	0.52692	0.955	P	0.54312	0.748	T	0.26815	-1.0092	10	0.72032	D	0.01	.	4.641	0.12548	0.6523:0.1657:0.182:0.0	.	668	P22105-3	.	P	668	ENSP00000364393:L668P;ENSP00000364396:L668P;ENSP00000418248:L668P	ENSP00000364393:L668P	L	-	2	0	0	TNXB	32171605	32171605	0.197000	0.23362	0.133000	0.22050	0.015000	0.08874	2.669000	0.46825	0.178000	0.19917	-0.460000	0.05396	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-20.000000	1	0.170000	NM_019105			18	18		103	101	1		1	0		0	0	20	0		9.999873e-01	1.758671e-01	0	0	0	5	0	18	103
TNXB	7148	broad.mit.edu	37	6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000479795.1	-	3	933	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375244.3_Missense_Mutation_p.V265M|TNXB_ENST00000375247.2_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB	265	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACACACGCAGCGCCCA	0.667																																						ENST00000479795.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				8						c.(793-795)Gtg>Atg		tenascin XB							44.0	51.0	48.0					6																	32064837		2188	4273	6461	SO:0001583	missense	7148	0	0					g.chr6:32064837C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.793G>A	chr6.hg19:g.32064837C>T	ENSP00000418248:p.Val265Met	0					TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000375244.3_Missense_Mutation_p.V265M	p.V265M			0	0	0	1.973144	P22105	TENX_HUMAN		3	933	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	1	1	hg19	c.793G>A		1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585053	0.28268	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;3.12	4.57	2.75	0.32379	4.57	2.75	0.32379	.	0.466924	0.15993	N	0.234727	T	0.21227	0.0511	M	0.89095	3.005	0.23501	N	0.997549	D	0.89917	1.0	D	0.87578	0.998	T	0.04664	-1.0935	10	0.72032	D	0.01	.	7.1375	0.25537	0.0:0.7045:0.0:0.2955	.	265	P22105-3	.	M	265	ENSP00000364393:V265M;ENSP00000364396:V265M;ENSP00000418248:V265M	ENSP00000364393:V265M	V	-	1	0	0	TNXB	32172815	32172815	0.012000	0.17670	1.000000	0.80357	0.078000	0.17371	0.141000	0.16076	0.912000	0.36772	-0.140000	0.14226	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-18.764950	1	0.170000	NM_019105			32	31		151	149	1		1	1		0	0	32	0		1	2.187383e-01	0	2	0	3	0	32	151
ATF6B	1388	broad.mit.edu	37	6	32095235	32095235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375203.3	-	3	266	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ATF6B_ENST00000375201.4_Silent_p.L75L|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	78	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGATCGGCAGGAGTTCCCATG	0.522																																						ENST00000375203.3	1.000000	0.450000	1	6.100000e-01	0.820000	0.810579	0.820000	1.000000																										0				22						c.(232-234)ctC>ctT		activating transcription factor 6 beta							33.0	34.0	34.0					6																	32095235		2203	4300	6503	SO:0001819	synonymous_variant	1388	0	0					g.chr6:32095235G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.234C>T	chr6.hg19:g.32095235G>A		0					ATF6B_ENST00000375201.4_Silent_p.L75L|ATF6B_ENST00000468502.1_5'UTR	p.L78L	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	0	0	0	1.973144	Q99941	ATF6B_HUMAN		3	266	-			B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	1	1	hg19	c.234C>T	CCDS4737.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-5.534436	1	0.170000				12	11		159	152	1		1	1		0	0	37	0		9.989613e-01	9.999955e-01	0	42	0	302	0	12	159
ATF6B	1388	broad.mit.edu	37	6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375203.3	-	1	48	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000375201.4_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	6	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607																																						ENST00000375203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(16-18)Ctg>Atg		activating transcription factor 6 beta							60.0	57.0	58.0					6																	32095969		2203	4300	6503	SO:0001583	missense	1388	0	0					g.chr6:32095969G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.16C>A	chr6.hg19:g.32095969G>T	ENSP00000364349:p.Leu6Met	0					ATF6B_ENST00000375201.4_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	p.L6M	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	0	0	0	1.973144	Q99941	ATF6B_HUMAN		1	48	-			B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	1	1	hg19	c.16C>A	CCDS4737.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780204	0.90195	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.64803	-0.12;0.61	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.415062	0.18475	U	0.140117	T	0.71517	0.3349	M	0.64997	1.995	0.35380	D	0.789878	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.74315	-0.3705	10	0.72032	D	0.01	-16.4553	14.4499	0.67376	0.0:0.0:1.0:0.0	.	6;6;6	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	M	6	ENSP00000364349:L6M;ENSP00000364347:L6M	ENSP00000364338:L6M	L	-	1	2	2	ATF6B	32203947	32203947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.789000	0.95967	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				57	56		249	248	1		1	1		0	0	45	0		1	1	0	83	0	188	0	57	249
PPT2	9374	broad.mit.edu	37	6	32130344	32130344	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	ENST00000324816.6	+	8	1278		c.e8-1		EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000375143.2_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2						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)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTCTTTGTAGCTTCTTTGGT	0.542																																						ENST00000324816.6	0.540000	0.310000	4.800000e-01	3.600000e-01	0.410000	0.427359	0.410000	0.420000																										0				17						c.e8-1		palmitoyl-protein thioesterase 2							158.0	176.0	170.0					6																	32130344		2203	4300	6503	SO:0001630	splice_region_variant	9374	0	0					g.chr6:32130344G>A	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.711-1G>A	chr6.hg19:g.32130344G>A		0					PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site				0	0	0	1.973144	Q9UMR5	PPT2_HUMAN		8	1278	+			A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	0	1	hg19		CCDS4742.1	0	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307831	0.81247	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PPT2	32238322	32238322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.851000	0.75425	2.685000	0.91497	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	0	0	1		2	2	2	0		0	0	363		363	360	1	2.060000	-4.298983	1	0.170000	NM_138717	Intron		55	54		1461	1397	0		1	0		0	0	363	0		1	1.384310e-03	0	0	0	2	0	55	1461
PPT2	9374	broad.mit.edu	37	6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	258					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)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562																																						ENST00000324816.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				17						c.(772-774)cTg>cCg		palmitoyl-protein thioesterase 2							108.0	117.0	114.0					6																	32130591		2203	4300	6503	SO:0001583	missense	9374	0	0					g.chr6:32130591T>C	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.773T>C	chr6.hg19:g.32130591T>C	ENSP00000320528:p.Leu258Pro	0					PPT2_ENST00000437001.2_Intron|PPT2_ENST00000445576.2_Intron|EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000422437.1_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P	p.L258P			0	0	0	1.973144	Q9UMR5	PPT2_HUMAN		9	1341	+			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	1	1	hg19	c.773T>C	CCDS4742.1	1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258556	0.59321	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.080153	0.51477	D	0.000092	D	0.95140	0.8425	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57324	0.752;0.818	D	0.94354	0.7582	10	0.35671	T	0.21	-8.3285	12.5588	0.56269	0.0:0.0:0.0:1.0	.	258;264	Q9UMR5;B0S872	PPT2_HUMAN;.	P	264;258;258;258;258	ENSP00000354608:L264P;ENSP00000378894:L258P;ENSP00000320528:L258P;ENSP00000364279:L258P;ENSP00000364285:L258P	ENSP00000320528:L258P	L	+	2	0	0	PPT2	32238569	32238569	0.929000	0.31497	0.997000	0.53966	0.988000	0.76386	2.341000	0.43983	2.210000	0.71456	0.533000	0.62120	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	1	0	1		2	2	2	0		0	0	187		187	179	1	2.060000	-20.000000	1	0.170000	NM_138717			113	106		894	868	1		1	1		0	0	187	0		1	9.994881e-01	0	18	0	68	0	113	894
AGPAT1	10554	broad.mit.edu	37	6	32137097	32137097	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32137097G>A	ENST00000395499.1	-	7	1387	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	270					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCACCACCCCGGCCATCAGTG	0.612																																						ENST00000395499.1	0.360000	0.090000	2.800000e-01	1.300000e-01	0.190000	0.212943	0.190000	0.190000																										0				12						c.(808-810)Cgg>Tgg		1-acylglycerol-3-phosphate O-acyltransferase 1							99.0	97.0	98.0					6																	32137097		1510	2709	4219	SO:0001583	missense	10554	0	0					g.chr6:32137097G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.808C>T	chr6.hg19:g.32137097G>A	ENSP00000378877:p.Arg270Trp	0					AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W	p.R270W			0	0	0	1.973144	Q99943	PLCA_HUMAN		7	1387	-			A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	0	1	hg19	c.808C>T	CCDS4744.1	0	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880842	0.51801	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.6	1.37	0.22104	5.6	1.37	0.22104	.	0.564260	0.17429	N	0.174560	T	0.80003	0.4544	L	0.29908	0.895	0.29476	N	0.856724	P;D;P	0.56287	0.623;0.975;0.857	B;B;B	0.37422	0.165;0.249;0.165	T	0.72571	-0.4253	10	0.72032	D	0.01	-8.6565	12.9503	0.58397	0.0:0.0:0.3832:0.6168	.	234;160;270	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	W	270;270;270;270;270;270;158	ENSP00000378874:R270W;ENSP00000364248:R270W;ENSP00000378877:R270W;ENSP00000364245:R270W;ENSP00000378875:R270W;ENSP00000337463:R270W;ENSP00000410473:R158W	ENSP00000337463:R270W	R	-	1	2	2	AGPAT1	32245075	32245075	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.210000	0.20664	0.561000	0.74099	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	0	0	0		2	2	2	0		0	0	96		96	94	1	2.060000	-2.297307	0	0.170000	NM_006411			8	7		476	465	0		1	1		0	0	96	0		9.883530e-01	9.848945e-01	0	4	0	439	0	8	476
AGPAT1	10554	broad.mit.edu	37	6	32138808	32138808	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32138808G>A	ENST00000395499.1	-	3	819	c.240C>T	c.(238-240)taC>taT	p.Y80Y	AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000375107.3_Silent_p.Y80Y			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	80					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGGATCCCGTACAGGTATT	0.567																																						ENST00000395499.1	0.500000	0.160000	4.000000e-01	2.200000e-01	0.300000	0.321315	0.300000	0.300000																										0				12						c.(238-240)taC>taT		1-acylglycerol-3-phosphate O-acyltransferase 1							104.0	98.0	100.0					6																	32138808		1510	2708	4218	SO:0001819	synonymous_variant	10554	5	117874	39				g.chr6:32138808G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.240C>T	chr6.hg19:g.32138808G>A		0					AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000336984.6_Silent_p.Y80Y	p.Y80Y			0	0	0	1.973144	Q99943	PLCA_HUMAN		3	819	-			A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	0	1	hg19	c.240C>T	CCDS4744.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-2.736815	1	0.170000	NM_006411			12	12		451	438	0		1	1		0	0	96	0		9.989617e-01	9.877752e-01	0	11	0	269	0	12	451
RNF5	6048	broad.mit.edu	37	6	32147691	32147691	+	Missense_Mutation	SNP	G	G	A	rs151021379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32147691G>A	ENST00000375094.3	+	4	468	c.310G>A	c.(310-312)Gct>Act	p.A104T	AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.A104T|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395499.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	104					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						CCAGAGACCAGCTCCGGAGAG	0.527													G|||	17	0.00339457	0.0008	0.0159	5008	,	,		18346	0.005		0.0	False		,,,				2504	0.0					ENST00000375094.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(310-312)Gct>Act		ring finger protein 5, E3 ubiquitin protein ligase							91.0	105.0	100.0					6																	32147691		2203	4300	6503	SO:0001583	missense	6048	264	121412	58				g.chr6:32147691G>A	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.310G>A	chr6.hg19:g.32147691G>A	ENSP00000364235:p.Ala104Thr	0					AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.A104T|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395499.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank	p.A104T	NM_006913.3	NP_008844.1	0	0	0	1.973144	Q99942	RNF5_HUMAN		4	468	+			A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	1	0	hg19	c.310G>A	CCDS4745.1	1	10	0.004578754578754579	1	0.0020325203252032522	6	0.016574585635359115	3	0.005244755244755245	0	0.0	G	16.81	3.224766	0.58668	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93811	-3.29;-3.29	5.13	4.19	0.49359	5.13	4.19	0.49359	.	0.067564	0.64402	D	0.000018	D	0.85613	0.5737	L	0.27053	0.805	0.35328	D	0.78533	P	0.42785	0.79	B	0.42188	0.379	D	0.88765	0.3260	10	0.87932	D	0	-8.4379	13.1135	0.59288	0.0:0.1623:0.8377:0.0	.	104	Q99942	RNF5_HUMAN	T	104	ENSP00000364235:A104T;ENSP00000407656:A104T	ENSP00000364235:A104T	A	+	1	0	0	RNF5	32255669	32255669	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.840000	0.75369	2.539000	0.85634	0.563000	0.77884	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	0	0	1		2	15	2	1		1	0	122		122	122	1	2.060000	-5.174491	1	0.170000	NM_006913			122	117		637	628	1		1	1		1	0	122	0		1	1	0	140	0	370	0	122	637
AGER	177	broad.mit.edu	37	6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	11					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627																																						ENST00000375076.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998214	0.990000	1.000000																										0				9						c.(31-33)Gtg>Atg		advanced glycosylation end product-specific receptor							71.0	47.0	55.0					6																	32151969		1511	2709	4220	SO:0001583	missense	177	1	119296	22				g.chr6:32151969C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.31G>A	chr6.hg19:g.32151969C>T	ENSP00000364217:p.Val11Met	0					AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Missense_Mutation_p.V11M	p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	0	0	0	1.973144	Q15109	RAGE_HUMAN		1	132	-			A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	1	1	hg19	c.31G>A	CCDS4746.1	1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648675	0.29336	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.67	1.38	0.22167	4.67	1.38	0.22167	.	0.482456	0.17591	N	0.168765	T	0.17789	0.0427	N	0.14661	0.345	0.80722	D	1	B;B;D;B;P;P;D;B;B;P;P;B	0.69078	0.36;0.055;0.997;0.36;0.5;0.633;0.996;0.36;0.156;0.5;0.831;0.027	B;B;D;B;B;B;D;B;B;B;B;B	0.78314	0.09;0.063;0.991;0.09;0.09;0.184;0.986;0.09;0.063;0.111;0.284;0.046	T	0.11518	-1.0584	10	0.51188	T	0.08	-4.4117	4.2601	0.10737	0.1736:0.6105:0.0:0.2159	.	11;11;11;11;11;11;11;11;11;11;11;11	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	M	11;11;11;42;11;11;11;11;11;11	ENSP00000364208:V11M;ENSP00000364195:V11M;ENSP00000364217:V11M;ENSP00000364211:V42M;ENSP00000387887:V11M;ENSP00000364206:V11M;ENSP00000398466:V11M;ENSP00000364196:V11M;ENSP00000445389:V11M	ENSP00000364195:V11M	V	-	1	0	0	AGER	32259947	32259947	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.350000	0.20079	0.452000	0.26830	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-11.996810	1	0.170000	NM_001136			21	19		132	126	1		1	0		0	0	28	0		9.999974e-01	2.092639e-02	0	0	0	2	0	21	132
NOTCH4	4855	broad.mit.edu	37	6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T	rs564772335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1879					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)			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						CAAGTCCGAGCCTGCAGACAA	0.716																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				100						c.(5635-5637)Gct>Act		notch 4							9.0	11.0	10.0					6																	32163591		1480	2647	4127	SO:0001583	missense	4855	0	0					g.chr6:32163591C>T		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.5635G>A	chr6.hg19:g.32163591C>T	ENSP00000364163:p.Ala1879Thr	0					GPSM3_ENST00000487761.1_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank	p.A1879T	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		30	5773	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	1	1	hg19	c.5635G>A	CCDS34420.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700137	0.48307	.	.	ENSG00000204301	ENST00000375023	D	0.81908	-1.55	4.01	1.18	0.20946	4.01	1.18	0.20946	.	0.398940	0.18440	N	0.141164	T	0.46405	0.1391	N	0.24115	0.695	0.19575	N	0.999962	P;B	0.43477	0.808;0.011	B;B	0.35353	0.201;0.007	T	0.46386	-0.9195	10	0.62326	D	0.03	.	3.5542	0.07858	0.1977:0.5916:0.0:0.2108	.	1879;1878	Q99466;B0S882	NOTC4_HUMAN;.	T	1879	ENSP00000364163:A1879T	ENSP00000364163:A1879T	A	-	1	0	0	NOTCH4	32271569	32271569	0.046000	0.20272	0.001000	0.08648	0.016000	0.09150	0.250000	0.18235	0.105000	0.17753	0.455000	0.32223	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				25	25		102	100	0		1	0		0	0	23	0		9.999999e-01	7.910711e-01	0	0	0	14	0	25	102
NOTCH4	4855	broad.mit.edu	37	6	32164146	32164146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					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)			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						GGAGAAGCGAGCGGGCGGCTC	0.622																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(5251-5253)cgC>cgT		notch 4							118.0	135.0	129.0					6																	32164146		1509	2708	4217	SO:0001819	synonymous_variant	4855	0	0					g.chr6:32164146G>A		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.5253C>T	chr6.hg19:g.32164146G>A		0					NOTCH4_ENST00000443903.2_Intron|GPSM3_ENST00000375043.3_5'Flank	p.R1751R	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		29	5391	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	1	1	hg19	c.5253C>T	CCDS34420.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1		2	2	2	0		0	0	133		133	130	1	2.060000	-20.000000	1	0.170000				165	164		802	788	1		1	1		0	0	133	0		1	9.415822e-01	0	4	0	21	0	165	802
NOTCH4	4855	broad.mit.edu	37	6	32165082	32165082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Silent_p.V91V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1682					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)			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						TAACCTGGCAGACCTCCCGAG	0.602																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(5044-5046)gtC>gtA		notch 4							40.0	45.0	43.0					6																	32165082		2201	4300	6501	SO:0001819	synonymous_variant	4855	0	0					g.chr6:32165082G>T		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.5046C>A	chr6.hg19:g.32165082G>T		0					NOTCH4_ENST00000443903.2_Silent_p.V91V|GPSM3_ENST00000375043.3_5'Flank	p.V1682V	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		27	5184	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	1	1	hg19	c.5046C>A	CCDS34420.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				80	79		347	341	1		1	0		0	0	69	0		1	8.288296e-01	0	0	0	16	0	80	347
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					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)			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						TCGACGCCGGATGAGCTGGAG	0.682																																						ENST00000375023.3	0.830000	0.400000	7.100000e-01	4.900000e-01	0.590000	0.607990	0.590000	0.580000																										0				100						c.(4411-4413)aTc>aGc		notch 4							40.0	50.0	46.0					6																	32166826		1509	2707	4216	SO:0001583	missense	4855	0	0					g.chr6:32166826A>C		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.4412T>G	chr6.hg19:g.32166826A>C	ENSP00000364163:p.Ile1471Ser	0					NOTCH4_ENST00000443903.2_5'Flank	p.I1471S	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		24	4550	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	0	1	hg19	c.4412T>G	CCDS34420.1	0	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990101	0.54041	.	.	ENSG00000204301	ENST00000375023	T	0.80480	-1.38	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.55097	0.1899	N	0.20685	0.6	0.80722	D	1	P;B	0.45715	0.865;0.048	P;B	0.48901	0.594;0.025	T	0.61695	-0.7010	10	0.05721	T	0.95	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	S	1471	ENSP00000364163:I1471S	ENSP00000364163:I1471S	I	-	2	0	0	NOTCH4	32274804	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000				27	27		501	492	0		1	0		0	0	86	0		9.999999e-01	1.312458e-01	0	0	0	12	0	27	501
NOTCH4	4855	broad.mit.edu	37	6	32171927	32171927	+	Silent	SNP	C	C	T	rs558185332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1035	EGF-like 26. {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)			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						TGTGTCCAGGCAGACACTGGC	0.617																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999931	0.990000	1.000000																										0				100						c.(3103-3105)ctG>ctA		notch 4							56.0	41.0	46.0					6																	32171927		1510	2707	4217	SO:0001819	synonymous_variant	4855	0	0					g.chr6:32171927C>T		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.3105G>A	chr6.hg19:g.32171927C>T		0						p.L1035L	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		19	3243	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	1	1	hg19	c.3105G>A	CCDS34420.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				28	28		144	141	1		1	0		0	0	39	0		1	7.880757e-01	0	0	0	17	0	28	144
NOTCH4	4855	broad.mit.edu	37	6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	118	EGF-like 3. {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)			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						GGGTCTTCAAGCTTGGCCTGG	0.627																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(352-354)Ctt>Ttt		notch 4							65.0	69.0	67.0					6																	32190387		2203	4300	6503	SO:0001583	missense	4855	0	0					g.chr6:32190387G>A		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.352C>T	chr6.hg19:g.32190387G>A	ENSP00000364163:p.Leu118Phe	0						p.L118F	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		3	490	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	1	1	hg19	c.352C>T	CCDS34420.1	1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183465	0.09495	.	.	ENSG00000204301	ENST00000375023	D	0.81996	-1.56	4.14	3.27	0.37495	4.14	3.27	0.37495	Epidermal growth factor-like, type 3 (1);	0.000000	0.38058	N	0.001823	T	0.67277	0.2876	L	0.38175	1.15	0.09310	N	0.999999	D;P	0.56035	0.974;0.846	P;B	0.50136	0.632;0.157	T	0.60652	-0.7221	10	0.45353	T	0.12	.	7.1824	0.25780	0.0:0.1898:0.614:0.1962	.	118;118	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	118	ENSP00000364163:L118F	ENSP00000364163:L118F	L	-	1	0	0	NOTCH4	32298365	32298365	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	0.693000	0.25497	0.963000	0.38082	-0.219000	0.12488	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	0		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				90	89		396	389	1		1	0		0	0	87	0		1	9.313835e-01	0	0	0	22	0	90	396
NOTCH4	4855	broad.mit.edu	37	6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	92	EGF-like 2. {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)			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						AGAGGGAGAGCTGGGGAGCCC	0.617																																						ENST00000375023.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(274-276)aGc>aTc		notch 4							72.0	76.0	74.0					6																	32190464		2203	4300	6503	SO:0001583	missense	4855	0	0					g.chr6:32190464C>A		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.275G>T	chr6.hg19:g.32190464C>A	ENSP00000364163:p.Ser92Ile	0						p.S92I	NM_004557.3	NP_004548.3	0	0	0	1.973144	Q99466	NOTC4_HUMAN		3	413	-			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	1	1	hg19	c.275G>T	CCDS34420.1	1	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628773	0.14257	.	.	ENSG00000204301	ENST00000375023	T	0.11821	2.74	3.12	3.12	0.35913	3.12	3.12	0.35913	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.987505	0.08238	N	0.976480	T	0.06962	0.0177	N	0.14661	0.345	0.33880	D	0.636028	D;P	0.58970	0.984;0.836	P;B	0.50754	0.649;0.329	T	0.19811	-1.0294	10	0.87932	D	0	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	92;92	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	92	ENSP00000364163:S92I	ENSP00000364163:S92I	S	-	2	0	0	NOTCH4	32298442	32298442	0.003000	0.15002	0.006000	0.13384	0.033000	0.12548	1.745000	0.38278	2.051000	0.60960	0.555000	0.69702	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	0		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000				86	84		394	384	1		1	0		0	0	78	0		1	8.762899e-01	0	0	0	19	0	86	394
BTNL2	56244	broad.mit.edu	37	6	32369565	32369565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000374993.1	-	4	726	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000454136.3_Silent_p.L243L|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	243	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468																																						ENST00000374993.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				19						c.(727-729)Ctg>Ttg		butyrophilin-like 2 (MHC class II associated)							49.0	51.0	50.0					6																	32369565		2203	4300	6503	SO:0001819	synonymous_variant	56244	0	0					g.chr6:32369565G>A	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.727C>T	chr6.hg19:g.32369565G>A		0					BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000454136.3_Silent_p.L243L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Intron	p.L243L	NM_019602.1	NP_062548.1	0	0	0	1.973144	Q9UIR0	BTNL2_HUMAN		4	726	-			A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	1	1	hg19	c.727C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_019602			30	30		134	132	1		1			0	0	42	0		1	0	0	0	0	0	0	30	134
BTNL2	56244	broad.mit.edu	37	6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A	rs185078933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000374993.1	-	3	691	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.S231L|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17261	0.001		0.0	False		,,,				2504	0.0					ENST00000374993.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(691-693)tCg>tTg		butyrophilin-like 2 (MHC class II associated)							61.0	51.0	55.0					6																	32370729		1510	2709	4219	SO:0001583	missense	56244	7	117908	35				g.chr6:32370729G>A	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.692C>T	chr6.hg19:g.32370729G>A	ENSP00000364132:p.Ser231Leu	0					BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.S231L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron	p.S231L	NM_019602.1	NP_062548.1	0	0	0	1.973144	Q9UIR0	BTNL2_HUMAN		3	691	-			A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	1	1	hg19	c.692C>T		1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.29	2.490779	0.44249	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03982	3.74	4.71	3.84	0.44239	4.71	3.84	0.44239	Immunoglobulin-like (1);	1.024130	0.07817	N	0.959082	T	0.02304	0.0071	M	0.66439	2.03	0.22737	N	0.998798	B	0.20052	0.041	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	.	9.1993	0.37249	0.0993:0.0:0.9007:0.0	.	231	Q9UIR0	BTNL2_HUMAN	L	231	ENSP00000364132:S231L	ENSP00000364132:S231L	S	-	2	0	0	BTNL2	32478707	32478707	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	2.342000	0.43992	1.378000	0.46305	0.626000	0.83405	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_019602			34	33		125	120	1		1			0	0	38	0		1	0	0	0	0	0	0	34	125
TAP2	6891	broad.mit.edu	37	6	32800500	32800500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000452392.2	-	6	1220	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000374897.2_Silent_p.E349E			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGACTTCATGCTCCTCGGCCC	0.597																																						ENST00000452392.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(1045-1047)gaG>gaA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	Vitamin E(DB00163)						118.0	104.0	109.0					6																	32800500		1511	2709	4220	SO:0001819	synonymous_variant	6891	0	0					g.chr6:32800500C>T	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.1047G>A	chr6.hg19:g.32800500C>T		0					TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000374897.2_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR	p.E349E			0	0	0	1.973144	Q9UDX4	S14L3_HUMAN		6	1220	-			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	1	1	hg19	c.1047G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	1	0	0		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_000544			113	109		426	414	0		1	1		0	0	96	0		1	1	0	147	0	426	0	113	426
TAP2	6891	broad.mit.edu	37	6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T	rs376467259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000452392.2	-	6	1201	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000374897.2_Missense_Mutation_p.R343H			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCCAAAACTGCGAACGGTCTG	0.607																																						ENST00000452392.2	0.570000	0.220000	4.800000e-01	2.900000e-01	0.370000	0.389540	0.370000	0.370000																										0										c.(1027-1029)cGc>cAc		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	Vitamin E(DB00163)	C	HIS/ARG,HIS/ARG	1,3019		0,1,1509	101.0	91.0	95.0		1028,1028	5.1	1.0	6		95	0,5418		0,0,2709	no	missense,missense	TAP2	NM_000544.3,NM_018833.2	29,29	0,1,4218	TT,TC,CC		0.0,0.0331,0.0119	probably-damaging,probably-damaging	343/704,343/654	32800519	1,8437	1510	2709	4219	SO:0001583	missense	6891	3	118228	39				g.chr6:32800519C>T	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.1028G>A	chr6.hg19:g.32800519C>T	ENSP00000391806:p.Arg343His	0					TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000374897.2_Missense_Mutation_p.R343H|TAP2_ENST00000485701.1_5'Flank	p.R343H			0	0	0	1.973144	Q9UDX4	S14L3_HUMAN		6	1201	-			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	1	1	hg19	c.1028G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229945	0.58777	3.31E-4	0.0	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82711	-1.64;-1.64;-1.64	5.05	5.05	0.67936	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219605	0.32204	N	0.006436	D	0.92489	0.7615	M	0.93507	3.425	0.39843	D	0.973139	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.986;0.986	D	0.93931	0.7214	9	0.87932	D	0	-13.3852	15.9458	0.79792	0.0:1.0:0.0:0.0	.	343;344;343;343	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	H	343	ENSP00000364034:R343H;ENSP00000364032:R343H;ENSP00000391806:R343H	ENSP00000364032:R343H	R	-	2	0	0	XXbac-BPG246D15.9;TAP2	32908497	32908497	0.997000	0.39634	1.000000	0.80357	0.131000	0.20780	2.933000	0.48948	2.619000	0.88677	0.549000	0.68633	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	0	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.193530	1	0.170000	NM_000544			16	15		484	471	0		1	1		0	0	82	0		9.999181e-01	9.999972e-01	0	60	0	653	0	16	484
TAP1	6890	broad.mit.edu	37	6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	457	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)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GAGTGTCTTTATTTCTTGCAG	0.517																																						ENST00000354258.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1369-1371)aTa>aGa		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	Lapatinib(DB01259)						151.0	144.0	147.0					6																	32818155		2203	4300	6503	SO:0001583	missense	6890	0	0					g.chr6:32818155A>C		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.1370T>G	chr6.hg19:g.32818155A>C	ENSP00000346206:p.Ile457Arg	0					PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.I196R	p.I457R	NM_000593.5	NP_000584.2	0	0	0	1.973144	Q03518	TAP1_HUMAN		5	1531	-			Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	1	1	hg19	c.1370T>G	CCDS4758.1	1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316890	0.60524	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80566	-1.39;-1.39	5.72	4.59	0.56863	5.72	4.59	0.56863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.005140	0.08010	N	0.990277	T	0.61324	0.2338	N	0.19112	0.55	0.48511	D	0.999665	P	0.38745	0.645	P	0.44422	0.449	T	0.63959	-0.6519	10	0.66056	D	0.02	-10.3736	4.4281	0.11513	0.7684:0.0:0.2316:0.0	.	457	Q03518	TAP1_HUMAN	R	457;196	ENSP00000346206:I457R;ENSP00000401919:I196R	ENSP00000346206:I457R	I	-	2	0	0	TAP1	32926133	32926133	0.993000	0.37304	0.366000	0.25914	0.793000	0.44817	2.439000	0.44846	2.185000	0.69588	0.523000	0.50628	ATA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_000593			77	75		323	311	1		1	1		0	0	84	0		1	1	0	406	0	870	0	77	323
HLA-DMB	3109	broad.mit.edu	37	6	32903416	32903416	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32903416G>T	ENST00000418107.2	-	4	898	c.636C>A	c.(634-636)tcC>tcA	p.S212S	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	212	Connecting peptide. {ECO:0000255}.				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)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTGCATGGGGGACAGCCCAG	0.537																																						ENST00000418107.2	0.560000	0.140000	4.400000e-01	2.200000e-01	0.310000	0.334942	0.310000	0.300000																										0				13						c.(634-636)tcC>tcA		major histocompatibility complex, class II, DM beta							46.0	53.0	50.0					6																	32903416		1510	2707	4217	SO:0001819	synonymous_variant	3109	0	0					g.chr6:32903416G>T		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.636C>A	chr6.hg19:g.32903416G>T		0					AL645941.1_ENST00000390777.1_RNA	p.S212S	NM_002118.4	NP_002109.2	0	0	0	1.973144	P28068	DMB_HUMAN		4	898	-			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	0	1	hg19	c.636C>A	CCDS4760.1	0	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969380	0.18659	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.81	-1.08	0.09936	4.81	-1.08	0.09936	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9558	0.14038	0.4117:0.1638:0.4244:0.0	.	.	.	.	T	102	.	.	P	-	1	0	0	HLA-DMB	33011394	33011394	0.010000	0.17322	0.741000	0.31004	0.990000	0.78478	-1.280000	0.02804	-0.154000	0.11118	0.448000	0.29417	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-8.751121	1	0.170000	NM_002118			8	8		297	292	0		1	1		0	0	45	0		9.888895e-01	9.999552e-01	0	7	0	842	0	8	297
BRD2	6046	broad.mit.edu	37	6	32947695	32947695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000374825.4	+	11	3633	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000395289.2_Silent_p.Y679Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000449085.2_Silent_p.Y597Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	644	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				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)			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547																																						ENST00000374825.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(1930-1932)taC>taT		bromodomain containing 2							51.0	52.0	52.0					6																	32947695		1511	2709	4220	SO:0001819	synonymous_variant	6046	1	119448	29				g.chr6:32947695C>T	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.1932C>T	chr6.hg19:g.32947695C>T		0					BRD2_ENST00000395289.2_Silent_p.Y679Y|BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y	p.Y644Y	NM_005104.3	NP_005095.1	0	0	0	1.973144	P25440	BRD2_HUMAN		11	3633	+			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	1	1	hg19	c.1932C>T	CCDS4762.1	1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161641	0.21538	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	-7.03	0.01584	5.51	-7.03	0.01584	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-11.7188	16.3828	0.83481	0.0:0.271:0.0:0.729	.	.	.	.	M	650	.	.	T	+	2	0	0	BRD2	33055673	33055673	0.000000	0.05858	0.535000	0.28026	0.992000	0.81027	-2.064000	0.01387	-1.651000	0.01504	-0.152000	0.13540	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-19.994470	1	0.170000				38	38		171	170	0		1	1		0	0	53	0		1	1	0	159	0	476	0	38	171
HLA-DPA1	3113	broad.mit.edu	37	6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|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)|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)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468																																						ENST00000419277.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(220-222)tgG>tgT		major histocompatibility complex, class II, DP alpha 1							76.0	93.0	87.0					6																	33037542		1511	2708	4219	SO:0001583	missense	3113	0	0					g.chr6:33037542C>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.222G>T	chr6.hg19:g.33037542C>A	ENSP00000393566:p.Trp74Cys	0					HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C|HLA-DPA1_ENST00000463066.1_5'UTR	p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	0	0	0	1.973144	P20036	DPA1_HUMAN		3	351	-			A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	1	1	hg19	c.222G>T	CCDS4764.1	1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314656	0.40996	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00932	5.53;5.53;5.53	3.0	3.0	0.34707	3.0	3.0	0.34707	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);	0.729808	0.12564	U	0.457926	T	0.05135	0.0137	H	0.95470	3.675	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.01587	-1.1318	10	0.87932	D	0	.	12.1984	0.54311	0.0:1.0:0.0:0.0	.	74	P20036	DPA1_HUMAN	C	74	ENSP00000393566:W74C;ENSP00000402872:W74C;ENSP00000390929:W74C	ENSP00000393566:W74C	W	-	3	0	0	HLA-DPA1	33145520	33145520	0.992000	0.36948	0.319000	0.25293	0.688000	0.40055	2.553000	0.45837	1.601000	0.50113	0.643000	0.83706	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_033554			68	68		246	233	1		1	1		0	0	61	0		1	1	0	551	0	5325	0	68	246
COL11A2	1302	broad.mit.edu	37	6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000374708.4	-	25	2148	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	716	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000374708.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1888-1890)taC>taA		collagen, type XI, alpha 2							38.0	39.0	39.0					6																	33144231		1511	2709	4220	SO:0001587	stop_gained	1302	0	0					g.chr6:33144231G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1890C>A	chr6.hg19:g.33144231G>T	ENSP00000363840:p.Tyr630*	0					COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*	p.Y630*	NM_080681.2	NP_542412.2	0	0	0	1.973144	P13942	COBA2_HUMAN		25	2148	-			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	0	1	hg19	c.1890C>A	CCDS43452.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.337532	0.99142	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.88	3.11	0.35812	4.88	3.11	0.35812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8654	0.24091	0.2806:0.0:0.7194:0.0	.	.	.	.	X	630;716;695;690;669;656;635;609	.	ENSP00000339915:Y716X	Y	-	3	2	2	COL11A2	33252209	33252209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	0.675000	0.31264	0.549000	0.68633	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				34	33		126	123	1		1			0	0	36	0		1	0	0	0	0	0	0	34	126
COL11A2	1302	broad.mit.edu	37	6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000374708.4	-	21	1953	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	651	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000374708.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1693-1695)caG>caT		collagen, type XI, alpha 2							39.0	40.0	40.0					6																	33145207		1508	2708	4216	SO:0001583	missense	1302	0	0					g.chr6:33145207C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1695G>T	chr6.hg19:g.33145207C>A	ENSP00000363840:p.Gln565His	0					COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	p.Q565H	NM_080681.2	NP_542412.2	0	0	0	1.973144	P13942	COBA2_HUMAN		21	1953	-			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	1	1	hg19	c.1695G>T	CCDS43452.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571584|3.571584	0.65765|0.65765	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917|ENST00000395196	D;D;D;D;D;D;D;D|.	0.95885|.	-3.41;-3.84;-3.84;-3.84;-3.84;-3.41;-3.84;-3.41|.	4.07|4.07	4.07|4.07	0.47477|0.47477	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60143|0.60143	0.2246|0.2246	L|L	0.45470|0.45470	1.425|1.425	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|D	0.89917|0.76494	1.0;0.996;0.997|0.999	D;D;D|D	0.91635|0.65573	0.999;0.996;0.981|0.936	T|T	0.65265|0.65265	-0.6210|-0.6210	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	13.8013|13.8013	0.63202|0.63202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;565;651|57	P13942-8;P13942-6;P13942|A2ABA7	.;.;COBA2_HUMAN|.	H|M	565;651;630;625;604;591;570;544|31	ENSP00000363840:Q565H;ENSP00000339915:Q651H;ENSP00000350079:Q630H;ENSP00000363846:Q625H;ENSP00000363845:Q604H;ENSP00000378623:Q591H;ENSP00000363844:Q570H;ENSP00000355123:Q544H|.	ENSP00000339915:Q651H|ENSP00000378622:R31M	Q|R	-|-	3|2	2|0	2|0	COL11A2|COL11A2	33253185|33253185	33253185|33253185	0.651000|0.651000	0.27340|0.27340	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.110000|-0.110000	0.10824|0.10824	2.113000|2.113000	0.64589|0.64589	0.579000|0.579000	0.79373|0.79373	CAG|AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-3.467591	1	0.170000				44	44		164	158	1		1			0	0	47	0		1	0	0	0	0	0	0	44	164
SLC39A7	7922	broad.mit.edu	37	6	33169572	33169572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.F154F|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	154					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547																																						ENST00000374677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(460-462)ttC>ttT		solute carrier family 39 (zinc transporter), member 7							77.0	89.0	85.0					6																	33169572		1310	2554	3864	SO:0001819	synonymous_variant	7922	0	0					g.chr6:33169572C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.462C>T	chr6.hg19:g.33169572C>T		0					RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.F154F|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	p.F154F	NM_006979.2	NP_008910.2	0	0	0	1.973144	Q92504	S39A7_HUMAN		2	835	+			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	1	1	hg19	c.462C>T	CCDS43453.1	1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748232	0.15710	.	.	ENSG00000112473	ENST00000445037	.	.	.	4.84	0.998	0.19857	4.84	0.998	0.19857	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10154	-1.0642	5	0.21014	T	0.42	-17.2381	8.5856	0.33655	0.0:0.6571:0.0:0.3429	.	.	.	.	S	60	.	ENSP00000416844:P60S	P	+	1	0	0	SLC39A7	33277550	33277550	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.472000	0.22116	0.272000	0.22027	-0.284000	0.09977	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_006979			72	70		342	337	1		1	1		0	0	94	0		1	1	0	183	0	363	0	72	342
SLC39A7	7922	broad.mit.edu	37	6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	280			E -> G (in dbSNP:rs1048778). {ECO:0000269|PubMed:8812499, ECO:0000269|Ref.2}.		transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502																																						ENST00000374677.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(838-840)Gaa>Taa		solute carrier family 39 (zinc transporter), member 7							71.0	72.0	71.0					6																	33170375		1216	2516	3732	SO:0001587	stop_gained	7922	0	0					g.chr6:33170375G>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.838G>T	chr6.hg19:g.33170375G>T	ENSP00000363809:p.Glu280*	0					RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	p.E280*	NM_006979.2	NP_008910.2	0	0	0	1.973144	Q92504	S39A7_HUMAN		5	1211	+			B0UXF6|Q5STP8|Q9UIQ0	Nonsense_Mutation	SNP	ENST00000374677.3	0	1	hg19	c.838G>T	CCDS43453.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.313466	0.95655	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	.	.	.	4.26	4.26	0.50523	4.26	4.26	0.50523	.	0.350125	0.26383	N	0.024686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.3686	12.0355	0.53423	0.0:0.0:1.0:0.0	.	.	.	.	X	190;280;261;185;280	.	ENSP00000363807:E280X	E	+	1	0	0	SLC39A7	33278353	33278353	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.859000	0.69539	2.209000	0.71365	0.549000	0.68633	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_006979			64	61		236	231	0		1	1		0	0	57	0		1	1	0	15	0	860	0	64	236
RING1	6015	broad.mit.edu	37	6	33179292	33179292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	271	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627																																						ENST00000374656.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(811-813)ctG>ctA		ring finger protein 1							23.0	26.0	25.0					6																	33179292		1262	2567	3829	SO:0001819	synonymous_variant	6015	0	0					g.chr6:33179292G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.813G>A	chr6.hg19:g.33179292G>A		0					RING1_ENST00000478431.1_3'UTR	p.L271L	NM_002931.3	NP_002922.2	0	0	0	1.973144	Q06587	RING1_HUMAN		5	1021	+			A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Silent	SNP	ENST00000374656.4	1	1	hg19	c.813G>A	CCDS34424.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				46	45		184	179	0		1	1		0	0	34	0		1	1	0	40	0	87	0	46	184
RING1	6015	broad.mit.edu	37	6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	319	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672																																						ENST00000374656.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(955-957)Cct>Tct		ring finger protein 1							39.0	42.0	41.0					6																	33179615		2203	4298	6501	SO:0001583	missense	6015	0	0					g.chr6:33179615C>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.955C>T	chr6.hg19:g.33179615C>T	ENSP00000363787:p.Pro319Ser	0					RING1_ENST00000478431.1_3'UTR	p.P319S	NM_002931.3	NP_002922.2	0	0	0	1.973144	Q06587	RING1_HUMAN		6	1163	+			A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	1	1	hg19	c.955C>T	CCDS34424.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465674	0.43839	.	.	ENSG00000204227	ENST00000374656	D	0.83163	-1.69	4.19	3.32	0.38043	4.19	3.32	0.38043	.	0.365598	0.20926	N	0.083198	T	0.41926	0.1180	N	0.08118	0	0.30485	N	0.771968	B	0.18310	0.027	B	0.17098	0.017	T	0.15636	-1.0430	10	0.14252	T	0.57	-6.4677	7.6128	0.28139	0.0:0.8838:0.0:0.1162	.	319	Q06587	RING1_HUMAN	S	319	ENSP00000363787:P319S	ENSP00000363787:P319S	P	+	1	0	0	RING1	33287593	33287593	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.150000	0.42254	0.958000	0.37956	0.448000	0.29417	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000				55	53		286	275	0		1	1		0	0	66	0		1	1	0	25	0	109	0	55	286
VPS52	6293	broad.mit.edu	37	6	33218738	33218738	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	HCG25_ENST00000442228.1_RNA|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	684					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)				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						AGCGATGATAGAGCTGGATCA	0.537																																						ENST00000445902.2	0.780000	0.320000	6.500000e-01	4.100000e-01	0.520000	0.539549	0.520000	0.520000																										0				28						c.(2050-2052)ctC>ctA		vacuolar protein sorting 52 homolog (S. cerevisiae)							63.0	67.0	66.0					6																	33218738		1510	2707	4217	SO:0001819	synonymous_variant	6293	0	0					g.chr6:33218738G>T	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.2052C>A	chr6.hg19:g.33218738G>T		0					HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000482399.1_3'UTR	p.L684L	NM_022553.4	NP_072047.4	0	0	0	1.973144	Q8N1B4	VPS52_HUMAN		20	2270	-			A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	1	1	hg19	c.2052C>A	CCDS4770.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-3.238434	1	0.170000	NM_022553			18	18		384	378	0		1	1		0	0	61	0		9.999807e-01	9.901632e-01	0	14	0	147	0	18	384
B3GALT4	8705	broad.mit.edu	37	6	33245202	33245202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	2					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677																																						ENST00000451237.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(4-6)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							44.0	49.0	47.0					6																	33245202		2202	4296	6498	SO:0001819	synonymous_variant	8705	0	0					g.chr6:33245202G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.6G>A	chr6.hg19:g.33245202G>A		0						p.Q2Q	NM_003782.3	NP_003773.1	0	0	0	1.973144	O96024	B3GT4_HUMAN		1	286	+				Silent	SNP	ENST00000451237.1	1	1	hg19	c.6G>A	CCDS34425.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000				118	117		519	511	1		1	1		0	0	96	0		1	9.967301e-01	0	13	0	27	0	118	519
B3GALT4	8705	broad.mit.edu	37	6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	252					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657																																						ENST00000451237.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(754-756)Cct>Tct		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							47.0	51.0	50.0					6																	33245950		2203	4300	6503	SO:0001583	missense	8705	1	121412	30				g.chr6:33245950C>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.754C>T	chr6.hg19:g.33245950C>T	ENSP00000390784:p.Pro252Ser	0						p.P252S	NM_003782.3	NP_003773.1	0	0	0	1.973144	O96024	B3GT4_HUMAN		1	1034	+				Missense_Mutation	SNP	ENST00000451237.1	1	1	hg19	c.754C>T	CCDS34425.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229448	0.58777	.	.	ENSG00000235863	ENST00000451237	T	0.55234	0.53	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.155147	0.42548	D	0.000681	T	0.39172	0.1068	L	0.58969	1.84	0.37649	D	0.922334	P	0.47677	0.899	P	0.45998	0.5	T	0.45220	-0.9276	10	0.49607	T	0.09	.	8.3233	0.32142	0.0:0.8953:0.0:0.1047	.	252	O96024	B3GT4_HUMAN	S	252	ENSP00000390784:P252S	ENSP00000390784:P252S	P	+	1	0	0	B3GALT4	33353928	33353928	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	2.563000	0.45922	2.334000	0.79466	0.643000	0.83706	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				96	96		346	337	1		1	1		0	0	64	0		1	9.999998e-01	0	27	0	55	0	96	346
WDR46	9277	broad.mit.edu	37	6	33247071	33247071	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	605							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAAATCTGTCCAGGGCAGATG	0.617																																						ENST00000374617.4	0.500000	0.230000	4.300000e-01	2.900000e-01	0.350000	0.367401	0.350000	0.350000																										0				20						c.(1813-1815)ctG>ctT		WD repeat domain 46							90.0	98.0	95.0					6																	33247071		2203	4300	6503	SO:0001819	synonymous_variant	9277	0	0					g.chr6:33247071C>A	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.1815G>T	chr6.hg19:g.33247071C>A		0					B3GALT4_ENST00000606990.1_Intron	p.L605L	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	0	0	0	1.973144	O15213	WDR46_HUMAN		15	2171	-			A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	1	1	hg19	c.1815G>T	CCDS4772.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	0	0	1		2	2	2	0		0	0	185		185	182	1	2.060000	-2.883282	1	0.170000	NM_005452			26	26		821	808	0		1	1		0	0	185	0		9.999999e-01	9.454926e-01	0	12	0	142	0	26	821
WDR46	9277	broad.mit.edu	37	6	33256731	33256731	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33256731C>T	ENST00000374617.4	-	2	485	c.129G>A	c.(127-129)ggG>ggA	p.G43G	PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	43							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TACGAGGAGGCCCTGGAGAGG	0.572																																						ENST00000374617.4	0.390000	0.100000	3.100000e-01	1.500000e-01	0.210000	0.233885	0.210000	0.210000																										0				20						c.(127-129)ggG>ggA		WD repeat domain 46							55.0	60.0	58.0					6																	33256731		2203	4300	6503	SO:0001819	synonymous_variant	9277	0	0					g.chr6:33256731C>T	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.129G>A	chr6.hg19:g.33256731C>T		0					PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank	p.G43G	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	0	0	0	1.973144	O15213	WDR46_HUMAN		2	485	-			A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	0	1	hg19	c.129G>A	CCDS4772.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	0	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-3.357967	1	0.170000	NM_005452			8	8		432	424	0		1	1		0	0	76	0		9.886899e-01	8.611412e-01	0	4	0	190	0	8	432
RGL2	5863	broad.mit.edu	37	6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGCCCCCTCCTCCCTCACTC	0.602																																						ENST00000497454.1	0.670000	0.230000	5.500000e-01	3.200000e-01	0.420000	0.439444	0.420000	0.410000																										0				34						c.(2272-2274)Gga>Tga		ral guanine nucleotide dissociation stimulator-like 2							65.0	62.0	63.0					6																	33259941		2203	4300	6503	SO:0001587	stop_gained	5863	0	0					g.chr6:33259941C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2272G>T	chr6.hg19:g.33259941C>A	ENSP00000420211:p.Gly758*	0					WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank	p.G758*	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	0	0	0	1.973144	O15211	RGL2_HUMAN		18	2767	-			B4DG72|Q5STK0|Q9Y3F3	Nonsense_Mutation	SNP	ENST00000497454.1	0	1	hg19	c.2272G>T	CCDS4774.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.777970|9.777970	0.99261|0.99261	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|.	.|.	.|.	5.64|5.64	3.85|3.85	0.44370|0.44370	5.64|5.64	3.85|3.85	0.44370|0.44370	.|.	.|0.307620	.|0.31020	.|N	.|0.008409	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12785|.	-1.0534|.	5|.	0.52906|0.18276	T|T	0.07|0.48	.|.	8.0045|8.0045	0.30317|0.30317	0.0:0.7551:0.1598:0.0851|0.0:0.7551:0.1598:0.0851	.|.	.|.	.|.	.|.	D|X	620|758	.|.	ENSP00000400083:E620D|ENSP00000420211:G758X	E|G	-|-	3|1	2|0	2|0	RGL2|RGL2	33367919|33367919	33367919|33367919	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	0.970000|0.970000	0.29383|0.29383	0.730000|0.730000	0.32425|0.32425	0.643000|0.643000	0.83706|0.83706	GAG|GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.244220	1	0.170000				13	13		350	348	0		1	1		0	0	67	0		9.995381e-01	9.361622e-01	0	4	0	125	0	13	350
TAPBP	6892	broad.mit.edu	37	6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000489157.1	-	4	846	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	299					amide transport (GO:0042886)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCAAGGGTTGCTGGCATCAGG	0.592																																						ENST00000489157.1	0.730000	0.230000	5.900000e-01	3.300000e-01	0.440000	0.467500	0.440000	0.430000																										0				18						c.(634-636)Gca>Aca		TAP binding protein (tapasin)							30.0	34.0	33.0					6																	33272389		1947	4100	6047	SO:0001583	missense	6892	0	0					g.chr6:33272389C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.634G>A	chr6.hg19:g.33272389C>T	ENSP00000419659:p.Ala212Thr	0					TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T	p.A212T			0	0	0	1.973144	O15533	TPSN_HUMAN		4	846	-			A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	1	1	hg19	c.634G>A	CCDS34427.2	0	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776151	0.31411	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.19	2.15	0.27550	5.19	2.15	0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444281	0.24513	N	0.037872	T	0.05731	0.0150	L	0.53249	1.67	0.31031	N	0.717382	P;P;P;P;B	0.45212	0.476;0.853;0.799;0.476;0.345	B;B;B;B;B	0.34138	0.045;0.176;0.162;0.031;0.02	T	0.19224	-1.0312	10	0.40728	T	0.16	-2.9447	10.6851	0.45837	0.5381:0.4618:0.0:0.0	.	299;212;317;299;299	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	T	299;317;212;299;299;299	ENSP00000395701:A299T;ENSP00000417949:A317T;ENSP00000419659:A212T;ENSP00000404833:A299T;ENSP00000387803:A299T	ENSP00000404833:A299T	A	-	1	0	0	TAPBP	33380367	33380367	0.290000	0.24343	0.875000	0.34327	0.272000	0.26649	0.443000	0.21644	0.737000	0.32582	-0.335000	0.08231	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-2.951661	1	0.170000				11	11		280	275	0		1	1		0	0	54	0		9.982585e-01	9.999770e-01	0	21	0	530	0	11	280
ZBTB22	9278	broad.mit.edu	37	6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582																																						ENST00000431845.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(367-369)gAc>gGc		zinc finger and BTB domain containing 22							103.0	104.0	104.0					6																	33284326		2203	4300	6503	SO:0001583	missense	9278	1	121412	29				g.chr6:33284326T>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.368A>G	chr6.hg19:g.33284326T>C	ENSP00000407545:p.Asp123Gly	0					TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	p.D123G	NM_005453.4	NP_005444.4	0	0	0	1.973144	O15209	ZBT22_HUMAN		2	519	-			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	1	1	hg19	c.368A>G	CCDS4775.1	1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611789	0.66558	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.68765	-0.35;-0.35;-0.35	4.44	4.44	0.53790	4.44	4.44	0.53790	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.35585	N	0.003104	T	0.71039	0.3293	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.74601	-0.3611	10	0.59425	D	0.04	.	11.7181	0.51666	0.0:0.0:0.0:1.0	.	123	O15209	ZBT22_HUMAN	G	123	ENSP00000404403:D123G;ENSP00000407545:D123G;ENSP00000413172:D123G	ENSP00000404403:D123G	D	-	2	0	0	ZBTB22	33392304	33392304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	1.870000	0.54199	0.450000	0.29827	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000				155	150		676	661	1		1	1		0	0	149	0		1	9.998769e-01	0	13	0	45	0	155	676
ZBTB22	9278	broad.mit.edu	37	6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGGGAAGTGCTGCCCCACTG	0.652																																						ENST00000431845.2	1.000000	0.430000	1	5.800000e-01	0.770000	0.778092	0.770000	1.000000																										0				21						c.(34-36)Gca>Tca		zinc finger and BTB domain containing 22							21.0	24.0	23.0					6																	33284660		2203	4298	6501	SO:0001583	missense	9278	0	0					g.chr6:33284660C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.34G>T	chr6.hg19:g.33284660C>A	ENSP00000407545:p.Ala12Ser	0					TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	p.A12S	NM_005453.4	NP_005444.4	0	0	0	1.973144	O15209	ZBT22_HUMAN		2	185	-			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	1	1	hg19	c.34G>T	CCDS4775.1	0	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092534	0.20471	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64438	3.4;3.4;-0.1	4.72	2.81	0.32909	4.72	2.81	0.32909	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.22728	N	0.998807	B	0.30793	0.295	B	0.28553	0.091	T	0.06935	-1.0799	9	0.40728	T	0.16	.	5.9203	0.19078	0.0:0.6968:0.1944:0.1088	.	12	O15209	ZBT22_HUMAN	S	12	ENSP00000404403:A12S;ENSP00000407545:A12S;ENSP00000413172:A12S	ENSP00000404403:A12S	A	-	1	0	0	ZBTB22	33392638	33392638	0.605000	0.26941	1.000000	0.80357	0.974000	0.67602	0.552000	0.23376	1.187000	0.43000	0.643000	0.83706	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-16.225560	1	0.170000				12	12		169	165	0		1	1		0	0	30	0		9.991019e-01	3.148817e-01	0	2	0	14	0	12	169
DAXX	1616	broad.mit.edu	37	6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6p21.3	6p21.3	1616	Mis, F, N	death-domain associated protein				E	E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				55						c.(1624-1626)Agc>Ggc		death-domain associated protein							102.0	93.0	96.0					6																	33287473		2203	4300	6503	SO:0001583	missense	1616	0	0					g.chr6:33287473T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1624A>G	chr6.hg19:g.33287473T>C	ENSP00000363668:p.Ser542Gly	0					ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|ZBTB22_ENST00000418724.1_5'Flank	p.S542G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	0	0	0	1.973144	Q9UER7	DAXX_HUMAN		6	1828	-			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	1	1	hg19	c.1624A>G	CCDS4776.1	1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387050	0.42308	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.36	0.3	0.15776	4.36	0.3	0.15776	.	0.827161	0.11195	N	0.589489	T	0.14787	0.0357	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.24621	-1.0155	9	0.36615	T	0.2	-4.1006	2.8037	0.05421	0.1873:0.2111:0.0:0.6016	.	554;542	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	542;542;467	.	ENSP00000266000:S542G	S	-	1	0	0	DAXX	33395451	33395451	0.014000	0.17966	0.001000	0.08648	0.811000	0.45836	0.142000	0.16096	0.308000	0.22923	0.448000	0.29417	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000				84	81		399	391	1		1	1		0	0	108	0		1	1	0	70	0	175	0	84	399
DAXX	1616	broad.mit.edu	37	6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	297	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.A297P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6p21.3	6p21.3	1616	Mis, F, N	death-domain associated protein				E	E			Pancreatic neuroendocrine tumors. Paediatric GBM		1	Substitution - Missense(1)	p.A297P(1)	pancreas(1)	55						c.(889-891)Gct>Tct		death-domain associated protein							85.0	73.0	77.0					6																	33288663		2203	4300	6503	SO:0001583	missense	1616	0	0					g.chr6:33288663C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.889G>T	chr6.hg19:g.33288663C>A	ENSP00000363668:p.Ala297Ser	0					DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|ZBTB22_ENST00000418724.1_5'Flank	p.A297S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	0	0	0	1.973144	Q9UER7	DAXX_HUMAN		3	1093	-			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	1	1	hg19	c.889G>T	CCDS4776.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116827	0.37339	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.79	0.43588	4.67	3.79	0.43588	.	0.109437	0.64402	D	0.000010	T	0.36166	0.0957	L	0.50919	1.6	0.33157	D	0.546452	P;D;D	0.58268	0.738;0.982;0.982	B;P;P	0.60117	0.441;0.869;0.869	T	0.24476	-1.0159	9	0.21540	T	0.41	-9.2936	5.725	0.18008	0.1955:0.7078:0.0:0.0968	.	309;297;297	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	S	297;297;222	.	ENSP00000266000:A297S	A	-	1	0	0	DAXX	33396641	33396641	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.756000	0.55205	1.186000	0.42985	0.643000	0.83706	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000				104	101		397	391	1		1	1		0	0	82	0		1	1	0	44	0	142	0	104	397
DAXX	1616	broad.mit.edu	37	6	33288802	33288802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000266000.6_Silent_p.G250G|DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		6	6p21.3	6p21.3	1616	Mis, F, N	death-domain associated protein				E	E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				55						c.(748-750)ggC>ggT		death-domain associated protein							72.0	66.0	68.0					6																	33288802		2203	4300	6503	SO:0001819	synonymous_variant	1616	0	0					g.chr6:33288802G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.750C>T	chr6.hg19:g.33288802G>A		0					DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.G250G	p.G250G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	0	0	0	1.973144	Q9UER7	DAXX_HUMAN		3	954	-			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	1	1	hg19	c.750C>T	CCDS4776.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000				71	71		343	337	1		1	1		0	0	89	0		1	1	0	33	0	136	0	71	343
PHF1	5252	broad.mit.edu	37	6	33382062	33382062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	265					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(793-795)tgC>tgT		PHD finger protein 1							152.0	151.0	151.0					6																	33382062		2203	4300	6503	SO:0001819	synonymous_variant	5252	0	0					g.chr6:33382062C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.795C>T	chr6.hg19:g.33382062C>T		0		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.C265C	p.C265C	NM_024165.2	NP_077084.1	0	0	0	1.973144	O43189	PHF1_HUMAN		9	1066	+		Ovarian(999;0.0443)	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	1	1	hg19	c.795C>T	CCDS4777.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	0	0	1		17	10	2	1		1	1	90		90	90	1	2.060000	-20.000000	1	0.170000				83	81		387	376	1		1	1		1	0	90	0		1	9.999995e-01	0	53	0	150	0	83	387
PHF1	5252	broad.mit.edu	37	6	33382914	33382914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	ENST00000374516.3	+	12	1503	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	PHF1_ENST00000374512.3_Silent_p.G407G|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	411					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGCAGAGGGCACTGCAGGTA	0.622											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1231-1233)gCa>gTa		PHD finger protein 1							61.0	60.0	61.0					6																	33382914		2203	4300	6503	SO:0001583	missense	5252	0	0					g.chr6:33382914C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1232C>T	chr6.hg19:g.33382914C>T	ENSP00000363640:p.Ala411Val	0		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_Silent_p.G407G	p.A411V	NM_024165.2	NP_077084.1	0	0	0	1.973144	O43189	PHF1_HUMAN		12	1503	+		Ovarian(999;0.0443)	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	0	1	hg19	c.1232C>T	CCDS4777.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.126797|2.126797	0.37533|0.37533	.|.	.|.	ENSG00000112511|ENSG00000112511	ENST00000374516|ENST00000427826	T|.	0.23950|.	1.88|.	4.87|4.87	4.87|4.87	0.63330|0.63330	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.24275|0.24275	0.0588|0.0588	N|N	0.14661|0.14661	0.345|0.345	0.33422|0.33422	D|D	0.580049|0.580049	D|.	0.57571|.	0.98|.	P|.	0.53988|.	0.739|.	T|T	0.14172|0.14172	-1.0482|-1.0482	10|6	0.15952|0.35671	T|T	0.53|0.21	-7.56|-7.56	13.3671|13.3671	0.60692|0.60692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411|.	O43189|.	PHF1_HUMAN|.	V|Y	411|25	ENSP00000363640:A411V|.	ENSP00000363640:A411V|ENSP00000404788:H25Y	A|H	+|+	2|1	0|0	0|0	PHF1|PHF1	33490892|33490892	33490892|33490892	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.765000|3.765000	0.55272|0.55272	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCA|CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	0	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				65	63		348	335	0		1	1		0	0	79	0		1	1	0	51	0	161	0	65	348
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					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)			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						GAAGAGTGTCCCAGGGGGGAA	0.637																																						ENST00000418600.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999078	0.990000	1.000000																										0				43						c.(331-333)Cca>Aca		synaptic Ras GTPase activating protein 1							53.0	50.0	51.0					6																	33399973		2203	4300	6503	SO:0001583	missense	8831	0	0					g.chr6:33399973C>A	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.331C>A	chr6.hg19:g.33399973C>A	ENSP00000403636:p.Pro111Thr	0					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000496374.1_3'UTR	p.P111T	NM_006772.2	NP_006763.2	0	0	0	1.973144	Q96PV0	SYGP1_HUMAN		4	432	+			A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	1	1	hg19	c.331C>A	CCDS34434.2	1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022972	0.35701	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.36;2.36	4.49	2.68	0.31781	4.49	2.68	0.31781	Pleckstrin homology domain (1);	1.042200	0.07610	N	0.925251	T	0.06325	0.0163	L	0.52573	1.65	0.30470	N	0.773439	B;P;B	0.36535	0.421;0.557;0.016	B;B;B	0.29785	0.05;0.107;0.017	T	0.30238	-0.9985	10	0.87932	D	0	.	8.0326	0.30474	0.0:0.7472:0.1608:0.092	.	111;111;111	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	T	111;111;111;52	ENSP00000293748:P111T;ENSP00000403636:P111T;ENSP00000412475:P52T	ENSP00000293748:P111T	P	+	1	0	0	SYNGAP1	33507951	33507951	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.648000	0.54410	0.440000	0.26502	0.467000	0.42956	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.320188	1	0.170000	XM_166407			30	30		201	199	1		1	0		0	0	44	0		1	7.765950e-01	0	1	0	20	0	30	201
ZBTB9	221504	broad.mit.edu	37	6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	176					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)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCTTCGCCTTTCCAGACCCC	0.542																																						ENST00000395064.2	0.430000	0.160000	3.600000e-01	2.100000e-01	0.270000	0.289639	0.270000	0.280000																										0				11						c.(526-528)Ttc>Gtc		zinc finger and BTB domain containing 9							90.0	95.0	93.0					6																	33423403		2203	4300	6503	SO:0001583	missense	221504	0	0					g.chr6:33423403T>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.526T>G	chr6.hg19:g.33423403T>G	ENSP00000378503:p.Phe176Val	0						p.F176V	NM_152735.3	NP_689948.1	0	0	0	1.973144	Q96C00	ZBTB9_HUMAN		2	794	+			A2AB19	Missense_Mutation	SNP	ENST00000395064.2	1	1	hg19	c.526T>G	CCDS4780.1	0	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526113	0.13066	.	.	ENSG00000213588	ENST00000395064	T	0.05580	3.42	4.88	3.67	0.42095	4.88	3.67	0.42095	.	0.657953	0.11979	U	0.510993	T	0.01835	0.0058	L	0.29908	0.895	0.28623	N	0.908056	B	0.23650	0.089	B	0.21546	0.035	T	0.43097	-0.9412	10	0.28530	T	0.3	.	9.0034	0.36097	0.0:0.0911:0.0:0.9089	.	176	Q96C00	ZBTB9_HUMAN	V	176	ENSP00000378503:F176V	ENSP00000378503:F176V	F	+	1	0	0	ZBTB9	33531381	33531381	0.970000	0.33590	1.000000	0.80357	0.920000	0.55202	0.733000	0.26087	2.051000	0.60960	0.460000	0.39030	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	0	0	1		2	2	2	0		0	0	151		151	149	1	2.060000	-12.787680	1	0.170000	NM_152735			16	15		659	650	0		1	0		0	0	151	0		9.999244e-01	2.568932e-01	0	0	0	39	0	16	659
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T	rs376712748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000360661.5_Missense_Mutation_p.V142I|BAK1_ENST00000442998.2_Silent_p.T148T	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597																																						ENST00000374467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(424-426)Gtc>Atc		BCL2-antagonist/killer 1		C	ILE/VAL	0,4406		0,0,2203	57.0	54.0	55.0		424	1.9	0.3	6		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAK1	NM_001188.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	142/212	33541918	1,13005	2203	4300	6503	SO:0001583	missense	578	8	121410	42				g.chr6:33541918C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.424G>A	chr6.hg19:g.33541918C>T	ENSP00000363591:p.Val142Ile	0					BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	p.V142I	NM_001188.3	NP_001179.1	0	0	0	1.973144	Q16611	BAK_HUMAN		5	672	-			C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	1	1	hg19	c.424G>A	CCDS4781.1	1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881671	0.17467	0.0	1.16E-4	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.11169	2.8;2.8	4.75	1.88	0.25563	4.75	1.88	0.25563	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.205916	0.32736	N	0.005701	T	0.03095	0.0091	L	0.45228	1.405	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	T	0.32693	-0.9897	10	0.18276	T	0.48	-26.5385	8.2542	0.31746	0.0:0.721:0.0:0.279	.	142	Q16611	BAK_HUMAN	I	122;142;142	ENSP00000363591:V142I;ENSP00000353878:V142I	ENSP00000353878:V142I	V	-	1	0	0	BAK1	33649896	33649896	0.994000	0.37717	0.259000	0.24435	0.351000	0.29236	2.813000	0.48002	0.194000	0.20326	0.485000	0.47835	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	1	0	1		2	2	2	0		0	0	60		60	57	1	2.060000	-3.763989	1	0.170000	NM_001188			62	61		263	257	1		1	1		0	0	60	0		1	1	0	106	0	176	0	62	263
BAK1	578	broad.mit.edu	37	6	33543127	33543127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000360661.5_Silent_p.L100L|BAK1_ENST00000442998.2_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	100					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592																																						ENST00000374467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(298-300)Ctg>Ttg		BCL2-antagonist/killer 1							166.0	130.0	142.0					6																	33543127		2203	4298	6501	SO:0001819	synonymous_variant	578	0	0					g.chr6:33543127G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.298C>T	chr6.hg19:g.33543127G>A		0					BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	p.L100L	NM_001188.3	NP_001179.1	0	0	0	1.973144	Q16611	BAK_HUMAN		4	546	-			C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	1	1	hg19	c.298C>T	CCDS4781.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	1	0	1		2	2	2	0		0	0	65		65	66	1	2.060000	-20.000000	1	0.170000	NM_001188			69	67		305	297	1		1	1		0	0	65	0		1	1	0	51	0	170	0	69	305
ITPR3	3710	broad.mit.edu	37	6	33626894	33626894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	ENST00000374316.5	+	7	1685	c.625G>T	c.(625-627)Gag>Tag	p.E209*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	209	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGCTGCAAGGAGGTGAGGGG	0.642																																						ENST00000374316.5	0.770000	0.310000	6.500000e-01	4.000000e-01	0.510000	0.530591	0.510000	0.500000																										0				85						c.(625-627)Gag>Tag		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						53.0	51.0	52.0					6																	33626894		2203	4300	6503	SO:0001587	stop_gained	3710	0	0					g.chr6:33626894G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.625G>T	chr6.hg19:g.33626894G>T	ENSP00000363435:p.Glu209*	0					ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*	p.E209*			0	0	0	1.973144	Q14573	ITPR3_HUMAN		7	1685	+			Q14649|Q5TAQ2	Nonsense_Mutation	SNP	ENST00000374316.5	0	1	hg19	c.625G>T	CCDS4783.1	0	.	.	.	.	.	.	.	.	.	.	G	44	11.245118	0.99536	.	.	ENSG00000096433	ENST00000374316	.	.	.	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.055402	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5481	17.7866	0.88540	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000363435:E209X	E	+	1	0	0	ITPR3	33734872	33734872	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.561000	0.98142	2.434000	0.82447	0.462000	0.41574	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-17.787700	1	0.170000	NM_002224			17	16		370	359	0		1	0	1	0	0	63	1139		9.999573e-01	9.424202e-01	1	0	42	107	1094	17	370
ITPR3	3710	broad.mit.edu	37	6	33630418	33630418	+	Silent	SNP	G	G	A	rs569007497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	275	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGCCACCTCGGCCACCAGCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.0		0.0	False		,,,				2504	0.001					ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				85						c.(823-825)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						67.0	57.0	60.0					6																	33630418		2203	4300	6503	SO:0001819	synonymous_variant	3710	17	121412	38				g.chr6:33630418G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.825G>A	chr6.hg19:g.33630418G>A		0					ITPR3_ENST00000605930.1_Silent_p.S275S	p.S275S			0	0	0	1.973144	Q14573	ITPR3_HUMAN		9	1885	+			Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	1	1	hg19	c.825G>A	CCDS4783.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.265490	1	0.170000	NM_002224			32	32		166	160	1		1	1	1	0	0	44	1039		1	9.999838e-01	1	40	234	53	937	32	166
ITPR3	3710	broad.mit.edu	37	6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	498					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGACATCATGGTCACTAAGCC	0.592																																						ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				85						c.(1492-1494)Gtc>Ttc		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						120.0	86.0	98.0					6																	33633694		2203	4300	6503	SO:0001583	missense	3710	0	0					g.chr6:33633694G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1492G>T	chr6.hg19:g.33633694G>T	ENSP00000363435:p.Val498Phe	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F	p.V498F			0	0	0	1.973144	Q14573	ITPR3_HUMAN		15	2552	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	1	1	hg19	c.1492G>T	CCDS4783.1	1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112780	0.56398	.	.	ENSG00000096433	ENST00000374316	D	0.95518	-3.73	5.64	5.64	0.86602	5.64	5.64	0.86602	Intracellular calcium-release channel (1);	0.053328	0.85682	D	0.000000	D	0.93726	0.7995	L	0.49350	1.555	0.46981	D	0.999279	P	0.45827	0.867	P	0.50136	0.632	D	0.93023	0.6442	10	0.40728	T	0.16	-49.3902	13.9283	0.63978	0.0726:0.0:0.9274:0.0	.	498	Q14573	ITPR3_HUMAN	F	498	ENSP00000363435:V498F	ENSP00000363435:V498F	V	+	1	0	0	ITPR3	33741672	33741672	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.547000	0.60712	2.654000	0.90174	0.563000	0.77884	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1		2	2	2	0		0	0	28		28	26	1	2.060000	-20.000000	1	0.170000	NM_002224			29	29		140	137	1		1	1	1	0	0	28	1288		1	9.999995e-01	1	54	230	66	1136	29	140
ITPR3	3710	broad.mit.edu	37	6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	537					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCCCCTGGTGCGGCTGGAGGA	0.602																																						ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1609-1611)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						82.0	77.0	79.0					6																	33634963		2203	4300	6503	SO:0001583	missense	3710	2	121412	36				g.chr6:33634963C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1609C>T	chr6.hg19:g.33634963C>T	ENSP00000363435:p.Arg537Trp	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W	p.R537W			0	0	0	1.973144	Q14573	ITPR3_HUMAN		16	2669	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	1	1	hg19	c.1609C>T	CCDS4783.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768538	0.69878	.	.	ENSG00000096433	ENST00000374316	D	0.90004	-2.6	4.51	3.48	0.39840	4.51	3.48	0.39840	Intracellular calcium-release channel (1);	0.066556	0.56097	D	0.000023	D	0.93070	0.7794	M	0.80982	2.52	0.40864	D	0.983853	D	0.76494	0.999	D	0.73380	0.98	D	0.93942	0.7224	10	0.87932	D	0	-33.5454	14.6107	0.68514	0.2219:0.7781:0.0:0.0	.	537	Q14573	ITPR3_HUMAN	W	537	ENSP00000363435:R537W	ENSP00000363435:R537W	R	+	1	2	2	ITPR3	33742941	33742941	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.483000	0.35497	2.222000	0.72286	0.462000	0.41574	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1		2	2	2	0		0	0	114		114	110	1	2.060000	-2.933443	1	0.170000	NM_002224			74	72		377	370	1		1	1	1	0	0	114	1493		1	9.999878e-01	1	37	268	48	1206	74	377
ITPR3	3710	broad.mit.edu	37	6	33647765	33647765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33647765G>T	ENST00000374316.5	+	32	5139	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1360					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGGACCACAGCCCCCTCATG	0.602																																						ENST00000374316.5	0.730000	0.210000	5.800000e-01	3.000000e-01	0.420000	0.449845	0.420000	0.410000																										0				85						c.(4078-4080)aGc>aTc		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						82.0	58.0	66.0					6																	33647765		2203	4300	6503	SO:0001583	missense	3710	0	0					g.chr6:33647765G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4079G>T	chr6.hg19:g.33647765G>T	ENSP00000363435:p.Ser1360Ile	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I	p.S1360I			0	0	0	1.973144	Q14573	ITPR3_HUMAN		32	5139	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	0	1	hg19	c.4079G>T	CCDS4783.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.280461	0.95489	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.70595	2.14	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	D	0.94062	0.7327	10	0.87932	D	0	-36.6971	18.1454	0.89653	0.0:0.0:1.0:0.0	.	1360	Q14573	ITPR3_HUMAN	I	1360	ENSP00000363435:S1360I	ENSP00000363435:S1360I	S	+	2	0	0	ITPR3	33755743	33755743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.624000	0.74243	2.357000	0.79964	0.462000	0.41574	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-3.431139	1	0.170000	NM_002224			9	8		242	239	0		1	1	1	0	0	39	1537		9.940337e-01	9.278081e-01	1	10	74	116	1562	9	242
ITPR3	3710	broad.mit.edu	37	6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1657					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCATGGAGTCGGAGGAGAAG	0.637																																						ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				85						c.(4969-4971)tCg>tTg		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						51.0	54.0	53.0					6																	33652166		2203	4300	6503	SO:0001583	missense	3710	2	121410	29				g.chr6:33652166C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4970C>T	chr6.hg19:g.33652166C>T	ENSP00000363435:p.Ser1657Leu	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L	p.S1657L			0	0	0	1.973144	Q14573	ITPR3_HUMAN		38	6030	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	1	1	hg19	c.4970C>T	CCDS4783.1	1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392363	0.62066	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.273852	0.37437	N	0.002098	T	0.82245	0.4995	L	0.36672	1.1	0.39997	D	0.975114	B	0.31949	0.348	B	0.24541	0.054	D	0.84365	0.0540	10	0.56958	D	0.05	-11.7663	13.8974	0.63781	0.1523:0.8477:0.0:0.0	.	1657	Q14573	ITPR3_HUMAN	L	1657	ENSP00000363435:S1657L	ENSP00000363435:S1657L	S	+	2	0	0	ITPR3	33760144	33760144	0.961000	0.32948	0.967000	0.41034	0.985000	0.73830	3.599000	0.54045	2.475000	0.83589	0.650000	0.86243	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1		2	2	7	0		0	0	54		54	52	1	2.060000	-3.375299	1	0.170000	NM_002224			37	36		165	162	1		1	1	1	0	1	54	1017		1	1	1	62	235	84	962	37	165
ITPR3	3710	broad.mit.edu	37	6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2131					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGCAGGACCGCAGCATGGAG	0.652																																						ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(6391-6393)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)						113.0	98.0	104.0					6																	33656032		2203	4300	6503	SO:0001583	missense	3710	2	121412	33				g.chr6:33656032G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6392G>A	chr6.hg19:g.33656032G>A	ENSP00000363435:p.Arg2131His	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H	p.R2131H			0	0	0	1.973144	Q14573	ITPR3_HUMAN		49	7452	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	1	1	hg19	c.6392G>A	CCDS4783.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.562243	0.96527	.	.	ENSG00000096433	ENST00000374316	D	0.92545	-3.06	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.115345	0.64402	D	0.000010	D	0.94915	0.8356	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.67725	0.953;0.656	D	0.94548	0.7751	10	0.56958	D	0.05	-27.8597	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2131;1801	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2131	ENSP00000363435:R2131H	ENSP00000363435:R2131H	R	+	2	0	0	ITPR3	33764010	33764010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	1		2	2	10	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_002224			87	86		454	447	1		1	1	1	0	3	95	930		1	1	1	84	214	123	773	87	454
ITPR3	3710	broad.mit.edu	37	6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	MIR3934_ENST00000579806.1_RNA|ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C|SBP1_ENST00000594414.1_5'Flank			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2659					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACGCAGGCAACGCCTAGGCTT	0.602																																						ENST00000374316.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(7975-7977)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 3	Caffeine(DB00201)	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	114.0	120.0		7975	3.5	0.8	6	dbSNP_134	120	0,8600		0,0,4300	no	missense	ITPR3	NM_002224.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2659/2672	33663516	1,13005	2203	4300	6503	SO:0001583	missense	3710	5	121410	41				g.chr6:33663516C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7975C>T	chr6.hg19:g.33663516C>T	ENSP00000363435:p.Arg2659Cys	0					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C|MIR3934_ENST00000579806.1_RNA|SBP1_ENST00000594414.1_5'Flank	p.R2659C			0	0	0	1.973144	Q14573	ITPR3_HUMAN		59	9035	+			Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	1	1	hg19	c.7975C>T	CCDS4783.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111247	0.77210	2.27E-4	0.0	ENSG00000096433	ENST00000374316	D	0.95980	-3.87	5.43	3.49	0.39957	5.43	3.49	0.39957	.	0.106304	0.64402	D	0.000015	D	0.97340	0.9130	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97884	1.0293	10	0.87932	D	0	-29.3951	12.1209	0.53891	0.5423:0.4577:0.0:0.0	.	2659	Q14573	ITPR3_HUMAN	C	2659	ENSP00000363435:R2659C	ENSP00000363435:R2659C	R	+	1	0	0	ITPR3	33771494	33771494	0.594000	0.26849	0.820000	0.32676	0.980000	0.70556	1.012000	0.29924	1.268000	0.44264	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	0		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_002224			110	109		492	486	1		1	1	1	0	0	125	1096		1	1	1	150	207	185	1022	110	492
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617																																						ENST00000293760.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1303-1305)Cgc>Tgc		LEM domain containing 2							122.0	98.0	106.0					6																	33744789		2203	4300	6503	SO:0001583	missense	221496	1	121412	36				g.chr6:33744789G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1303C>T	chr6.hg19:g.33744789G>A	ENSP00000293760:p.Arg435Cys	0					LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	p.R435C	NM_181336.3	NP_851853.1	0	0	0	1.973144	Q8NC56	LEMD2_HUMAN		8	1322	-			B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	1	1	hg19	c.1303C>T	CCDS4785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	0|0	LEMD2|LEMD2	33852767|33852767	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	XM_166338			77	77		281	277	1		1	1		0	0	80	0		1	1	0	47	0	165	0	77	281
LEMD2	221496	broad.mit.edu	37	6	33744826	33744826	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000508327.1_Silent_p.V120V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	422					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582																																						ENST00000293760.5	1.000000	0.670000	1	7.900000e-01	0.920000	0.907831	0.920000	1.000000																										0				9						c.(1264-1266)gtC>gtA		LEM domain containing 2							138.0	120.0	126.0					6																	33744826		2203	4300	6503	SO:0001819	synonymous_variant	221496	0	0					g.chr6:33744826G>T		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1266C>A	chr6.hg19:g.33744826G>T		0					LEMD2_ENST00000508327.1_Silent_p.V120V|LEMD2_ENST00000502643.1_5'UTR	p.V422V	NM_181336.3	NP_851853.1	0	0	0	1.973144	Q8NC56	LEMD2_HUMAN		8	1285	-			B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	1	1	hg19	c.1266C>A	CCDS4785.1	1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184209	0.21870	.	.	ENSG00000161904	ENST00000504692	.	.	.	5.66	-1.11	0.09840	5.66	-1.11	0.09840	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-11.3519	2.9184	0.05760	0.1335:0.3101:0.3499:0.2065	.	.	.	.	T	70	.	.	P	-	1	0	0	LEMD2	33852804	33852804	0.987000	0.35691	1.000000	0.80357	0.958000	0.62258	0.071000	0.14594	0.277000	0.22141	-0.302000	0.09304	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	0		2	2	2	0		0	0	96		96	94	1	2.060000	-20.000000	1	0.170000	XM_166338			39	39		448	444	1		1	1		0	0	96	0		1	9.999852e-01	0	28	0	163	0	39	448
LEMD2	221496	broad.mit.edu	37	6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	362					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587																																						ENST00000293760.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1084-1086)Cgc>Tgc		LEM domain containing 2							104.0	100.0	101.0					6																	33746091		2203	4300	6503	SO:0001583	missense	221496	0	0					g.chr6:33746091G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1084C>T	chr6.hg19:g.33746091G>A	ENSP00000293760:p.Arg362Cys	0					LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C|LEMD2_ENST00000502643.1_5'UTR	p.R362C	NM_181336.3	NP_851853.1	0	0	0	1.973144	Q8NC56	LEMD2_HUMAN		6	1103	-			B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	1	1	hg19	c.1084C>T	CCDS4785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891482|3.891482	0.72524|0.72524	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.215049	.|0.33327	.|N	.|0.005036	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.47716|0.47716	1.5|1.5	0.44539|0.44539	D|D	0.997496|0.997496	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.73380	.|0.98;0.877	T|T	0.69562|0.69562	-0.5112|-0.5112	6|9	0.87932|0.51188	D|T	0|0.08	-5.1228|-5.1228	15.8448|15.8448	0.78879|0.78879	0.0:0.0:0.8631:0.1369|0.0:0.0:0.8631:0.1369	.|.	.|362;323	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	L|C	9|362;60	.|.	ENSP00000421112:P9L|ENSP00000293760:R362C	P|R	-|-	2|1	0|0	0|0	LEMD2|LEMD2	33854069|33854069	33854069|33854069	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.978000|0.978000	0.69477|0.69477	4.571000|4.571000	0.60879|0.60879	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CCG|CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-2.960946	1	0.170000	XM_166338			108	107		408	401	1		1	1		0	0	87	0		1	1	0	82	0	198	0	108	408
LEMD2	221496	broad.mit.edu	37	6	33752178	33752178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'Flank	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	268					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552																																						ENST00000293760.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(802-804)gcC>gcT		LEM domain containing 2							100.0	91.0	94.0					6																	33752178		2203	4300	6503	SO:0001819	synonymous_variant	221496	0	0					g.chr6:33752178G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.804C>T	chr6.hg19:g.33752178G>A		0					LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'Flank	p.A268A	NM_181336.3	NP_851853.1	0	0	0	1.973144	Q8NC56	LEMD2_HUMAN		3	823	-			B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	1	1	hg19	c.804C>T	CCDS4785.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.462439	1	0.170000	XM_166338			82	79		354	345	1		1	1		0	0	89	0		1	1	0	43	0	144	0	82	354
MLN	4295	broad.mit.edu	37	6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	rs140882390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000507738.1_Missense_Mutation_p.R4C|MLN_ENST00000266003.5_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	4					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21133	0.001		0.001	False		,,,				2504	0.0072					ENST00000430124.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(10-12)Cgt>Tgt		motilin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	79.0	69.0	73.0		10,10,10	-3.0	0.7	6	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	180,180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	4/115,4/109,4/116	33768931	3,13003	2203	4300	6503	SO:0001583	missense	4295	211	121412	54				g.chr6:33768931G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.10C>T	chr6.hg19:g.33768931G>A	ENSP00000388825:p.Arg4Cys	0					MLN_ENST00000507738.1_Missense_Mutation_p.R4C|MLN_ENST00000266003.5_Missense_Mutation_p.R4C	p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	0	0	0	1.973144	P12872	MOTI_HUMAN		2	75	-			B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	1	1	hg19	c.10C>T	CCDS4786.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.77	2.039020	0.35989	0.0	3.49E-4	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.49720	0.77;0.77;0.77	5.43	-3.03	0.05429	5.43	-3.03	0.05429	.	0.976877	0.08403	N	0.951111	T	0.13927	0.0337	L	0.42744	1.35	0.24797	N	0.992721	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.29640	-1.0005	10	0.52906	T	0.07	-1.6005	1.2522	0.01984	0.4245:0.1104:0.2712:0.1939	.	4;4;4	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	C	4	ENSP00000388825:R4C;ENSP00000266003:R4C;ENSP00000425467:R4C	ENSP00000266003:R4C	R	-	1	0	0	MLN	33876909	33876909	0.003000	0.15002	0.696000	0.30242	0.777000	0.43975	-0.499000	0.06413	-0.404000	0.07610	0.655000	0.94253	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-2.742575	1	0.170000				84	84		359	348	1		1			0	0	112	0		1	0	0	0	0	0	0	84	359
GRM4	2914	broad.mit.edu	37	6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A	rs376715421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000374181.4_Missense_Mutation_p.R856C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	856					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGCGCTTGCGCTTGGGCACG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.001		0.0	False		,,,				2504	0.0					ENST00000538487.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2566-2568)Cgc>Tgc		glutamate receptor, metabotropic 4		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	100.0	106.0		2566	4.2	1.0	6		106	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	856/913	33996020	1,13005	2203	4300	6503	SO:0001583	missense	2914	2	121412	38				g.chr6:33996020G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2566C>T	chr6.hg19:g.33996020G>A	ENSP00000440556:p.Arg856Cys	0					GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C	p.R856C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	0	0	0	1.973144	Q14833	GRM4_HUMAN		10	3009	-			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	1	1	hg19	c.2566C>T	CCDS4787.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.059421	0.93846	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.2;-2.25;-2.27;-2.45;-2.29	4.18	4.18	0.49190	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.90480	0.7018	M	0.71206	2.165	0.80722	D	1	B;D;D;D;D	0.76494	0.175;0.972;0.999;0.997;0.989	B;P;P;P;P	0.56916	0.039;0.582;0.809;0.649;0.677	D	0.89596	0.3831	10	0.37606	T	0.19	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	856;740;548;723;687;856;716	ENSP00000363296:R856C;ENSP00000363292:R740C;ENSP00000445533:R548C;ENSP00000437925:R723C;ENSP00000437730:R687C;ENSP00000440556:R856C;ENSP00000398456:R716C	ENSP00000363292:R740C	R	-	1	0	0	GRM4	34103998	34103998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.370000	0.73114	2.160000	0.67779	0.478000	0.44815	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000				117	116		462	458	1		1	0		0	0	89	0		1	0	0	0	0	1	0	117	462
GRM4	2914	broad.mit.edu	37	6	34004315	34004315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000374181.4_Silent_p.C524C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000374177.3_Silent_p.C408C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	524					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCCGGTTGGCAGGGCAGGC	0.627																																						ENST00000538487.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1570-1572)tgC>tgT		glutamate receptor, metabotropic 4							49.0	43.0	45.0					6																	34004315		2202	4300	6502	SO:0001819	synonymous_variant	2914	0	0					g.chr6:34004315G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1572C>T	chr6.hg19:g.34004315G>A		0					GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.C524C|GRM4_ENST00000455714.2_Silent_p.C384C	p.C524C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	0	0	0	1.973144	Q14833	GRM4_HUMAN		9	2015	-			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	1	1	hg19	c.1572C>T	CCDS4787.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000				70	69		300	296	1		1	0		0	0	67	0		1	3.684165e-02	0	0	0	2	0	70	300
PACSIN1	29993	broad.mit.edu	37	6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	177	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562																																						ENST00000538621.1	1.000000	0.590000	1	7.300000e-01	0.890000	0.878615	0.890000	1.000000																										0				13						c.(529-531)aGc>aTc		protein kinase C and casein kinase substrate in neurons 1							120.0	102.0	108.0					6																	34497247		2203	4300	6503	SO:0001583	missense	29993	0	0					g.chr6:34497247G>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.530G>T	chr6.hg19:g.34497247G>T	ENSP00000439639:p.Ser177Ile	0					PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I	p.S177I	NM_001199583.2	NP_001186512.1	0	0	0	1.973144	Q9BY11	PACN1_HUMAN		5	775	+			Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	1	1	hg19	c.530G>T	CCDS4793.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.42513	0.97;2.54;0.97	3.83	3.83	0.44106	3.83	3.83	0.44106	.	0.244310	0.43919	D	0.000517	T	0.32071	0.0817	M	0.69823	2.125	0.53005	D	0.999966	B	0.17852	0.024	B	0.16722	0.016	T	0.42699	-0.9436	10	0.62326	D	0.03	-11.3885	15.9069	0.79436	0.0:0.0:1.0:0.0	.	177	Q9BY11	PACN1_HUMAN	I	177;135;177;177	ENSP00000244458:S177I;ENSP00000363155:S135I;ENSP00000439639:S177I	ENSP00000244458:S177I	S	+	2	0	0	PACSIN1	34605225	34605225	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.590000	0.82653	2.127000	0.65507	0.557000	0.71058	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				24	24		286	284	0		1	0		0	0	58	0		9.999997e-01	1.882339e-02	0	1	0	2	0	24	286
PACSIN1	29993	broad.mit.edu	37	6	34499506	34499506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000244458.2_Silent_p.R389R|PACSIN1_ENST00000374043.2_Silent_p.R347R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657																																						ENST00000538621.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1165-1167)cgC>cgT		protein kinase C and casein kinase substrate in neurons 1							89.0	96.0	94.0					6																	34499506		2203	4300	6503	SO:0001819	synonymous_variant	29993	1	121402	38				g.chr6:34499506C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1167C>T	chr6.hg19:g.34499506C>T		0					PACSIN1_ENST00000244458.2_Silent_p.R389R|PACSIN1_ENST00000374043.2_Silent_p.R347R	p.R389R	NM_001199583.2	NP_001186512.1	0	0	0	1.973144	Q9BY11	PACN1_HUMAN		9	1412	+			Q9P2G8	Silent	SNP	ENST00000538621.1	1	1	hg19	c.1167C>T	CCDS4793.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	1	0	1		2	2	2	0		0	0	211		211	210	1	2.060000	-20.000000	1	0.170000				206	202		899	884	1		1	1		0	0	211	0		1	3.127713e-01	0	3	0	3	0	206	899
C6orf106	64771	broad.mit.edu	37	6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463																																						ENST00000374023.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(541-543)gTg>gCg		chromosome 6 open reading frame 106							68.0	61.0	63.0					6																	34574651		2203	4300	6503	SO:0001583	missense	64771	0	0					g.chr6:34574651A>G	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.542T>C	chr6.hg19:g.34574651A>G	ENSP00000363135:p.Val181Ala	0					C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	p.V181A	NM_024294.2	NP_077270.1	0	0	0	1.973144	Q9H6K1	CF106_HUMAN		4	785	-			B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	1	1	hg19	c.542T>C	CCDS4796.1	1	.	.	.	.	.	.	.	.	.	.	A	9.088	1.001044	0.19121	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	N	0.02665	-0.54	0.45477	D	0.998447	B;B	0.11235	0.002;0.004	B;B	0.13407	0.009;0.006	T	0.23619	-1.0183	9	0.11182	T	0.66	-9.5435	10.0971	0.42482	0.9248:0.0:0.0752:0.0	.	115;181	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	A	181;115;107	.	ENSP00000363133:V107A	V	-	2	0	0	C6orf106	34682629	34682629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.165000	0.71891	2.164000	0.68074	0.454000	0.30748	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	0	0	1		2	14	2	1		1	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_022758			60	55		338	329	1		1	1		1	0	78	0		1	9.999972e-01	0	95	0	190	0	60	338
UHRF1BP1	54887	broad.mit.edu	37	6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	44							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522																																						ENST00000192788.5	1.000000	0.670000	1	8.200000e-01	0.980000	0.932025	0.980000	1.000000																										0				54						c.(130-132)gaG>gaT		UHRF1 binding protein 1							83.0	84.0	84.0					6																	34789517		1954	4155	6109	SO:0001583	missense	54887	0	0					g.chr6:34789517G>T	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.132G>T	chr6.hg19:g.34789517G>T	ENSP00000192788:p.Glu44Asp	0					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D|Y_RNA_ENST00000383990.1_RNA	p.E44D	NM_017754.3	NP_060224.3	0	0	0	1.973144	Q6BDS2	URFB1_HUMAN		2	303	+			Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	1	1	hg19	c.132G>T	CCDS43455.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414584	0.83449	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82526	-1.62;-1.62	5.79	2.01	0.26516	5.79	2.01	0.26516	.	0.059459	0.64402	D	0.000003	T	0.81791	0.4897	L	0.48642	1.525	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.51188	T	0.08	-24.7211	10.1509	0.42794	0.3296:0.0:0.6704:0.0	.	44	Q6BDS2	URFB1_HUMAN	D	44	ENSP00000192788:E44D;ENSP00000400628:E44D	ENSP00000192788:E44D	E	+	3	2	2	UHRF1BP1	34897495	34897495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	0.370000	0.24538	0.557000	0.71058	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.221884	1	0.170000	NM_017754			28	28		300	297	0		1	1		0	0	61	0		1	4.138859e-01	0	2	0	14	0	28	300
UHRF1BP1	54887	broad.mit.edu	37	6	34803134	34803134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	245							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502																																						ENST00000192788.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(733-735)Ctg>Ttg		UHRF1 binding protein 1							127.0	129.0	128.0					6																	34803134		2110	4234	6344	SO:0001819	synonymous_variant	54887	0	0					g.chr6:34803134C>T	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.733C>T	chr6.hg19:g.34803134C>T		0					UHRF1BP1_ENST00000452449.2_Silent_p.L245L	p.L245L	NM_017754.3	NP_060224.3	0	0	0	1.973144	Q6BDS2	URFB1_HUMAN		7	904	+			Q9NXE0	Silent	SNP	ENST00000192788.5	1	1	hg19	c.733C>T	CCDS43455.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_017754			78	76		343	336	0		1	1		0	0	113	0		1	4.534784e-01	0	3	0	5	0	78	343
UHRF1BP1	54887	broad.mit.edu	37	6	34824616	34824616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34824616G>T	ENST00000192788.5	+	11	1512	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	447							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCTCTCAGGGCAGACAGC	0.488																																						ENST00000192788.5	0.650000	0.260000	5.500000e-01	3.400000e-01	0.430000	0.448712	0.430000	0.430000																										0				54						c.(1339-1341)caG>caT		UHRF1 binding protein 1							89.0	86.0	87.0					6																	34824616		1891	4110	6001	SO:0001583	missense	54887	0	0					g.chr6:34824616G>T	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.1341G>T	chr6.hg19:g.34824616G>T	ENSP00000192788:p.Gln447His	0					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	p.Q447H	NM_017754.3	NP_060224.3	0	0	0	1.973144	Q6BDS2	URFB1_HUMAN		11	1512	+			Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	1	1	hg19	c.1341G>T	CCDS43455.1	0	.	.	.	.	.	.	.	.	.	.	G	2.981	-0.210263	0.06140	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08807	3.05;3.05	5.93	3.06	0.35304	5.93	3.06	0.35304	.	0.411838	0.25205	N	0.032357	T	0.00637	0.0021	N	0.00841	-1.15	0.28030	N	0.934187	B	0.10296	0.003	B	0.08055	0.003	T	0.48636	-0.9018	10	0.15952	T	0.53	-6.1459	5.2525	0.15529	0.0746:0.2348:0.5256:0.165	.	447	Q6BDS2	URFB1_HUMAN	H	447	ENSP00000192788:Q447H;ENSP00000400628:Q447H	ENSP00000192788:Q447H	Q	+	3	2	2	UHRF1BP1	34932594	34932594	0.432000	0.25554	0.998000	0.56505	0.426000	0.31534	0.775000	0.26689	1.526000	0.49068	-0.150000	0.13652	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-2.779577	1	0.170000	NM_017754			17	17		442	429	0		1	0		0	0	87	0		9.999573e-01	1.568240e-01	0	0	0	18	0	17	442
UHRF1BP1	54887	broad.mit.edu	37	6	34827139	34827139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34827139G>A	ENST00000192788.5	+	14	3177	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1002							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGACTGCTGTGAATGGACAGG	0.537																																						ENST00000192788.5	0.620000	0.210000	5.100000e-01	2.800000e-01	0.380000	0.402624	0.380000	0.380000																										0				54						c.(3004-3006)gtG>gtA		UHRF1 binding protein 1							62.0	66.0	65.0					6																	34827139		2046	4177	6223	SO:0001819	synonymous_variant	54887	0	0					g.chr6:34827139G>A	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.3006G>A	chr6.hg19:g.34827139G>A		0					UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	p.V1002V	NM_017754.3	NP_060224.3	0	0	0	1.973144	Q6BDS2	URFB1_HUMAN		14	3177	+			Q9NXE0	Silent	SNP	ENST00000192788.5	0	1	hg19	c.3006G>A	CCDS43455.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-12.217060	1	0.170000	NM_017754			12	11		356	346	0		1	0		0	0	81	0		9.989795e-01	2.459443e-01	0	1	0	26	0	12	356
ANKS1A	23294	broad.mit.edu	37	6	34935091	34935091	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	91					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463																																						ENST00000360359.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				31						c.(271-273)ggC>ggT		ankyrin repeat and sterile alpha motif domain containing 1A							241.0	204.0	217.0					6																	34935091		2203	4300	6503	SO:0001819	synonymous_variant	23294	1	121412	30				g.chr6:34935091C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.273C>T	chr6.hg19:g.34935091C>T		0					ANKS1A_ENST00000535627.1_Silent_p.G91G	p.G91G	NM_015245.2	NP_056060.2	0	0	0	1.973144	Q92625	ANS1A_HUMAN		2	411	+			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	1	1	hg19	c.273C>T	CCDS4798.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-19.999840	1	0.170000	XM_166478			53	53		321	316	1		1	1		0	0	83	0		1	7.726709e-01	0	3	0	16	0	53	321
ANKS1A	23294	broad.mit.edu	37	6	34937945	34937945	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527																																						ENST00000360359.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.e3+2		ankyrin repeat and sterile alpha motif domain containing 1A							100.0	78.0	85.0					6																	34937945		2203	4300	6503	SO:0001630	splice_region_variant	23294	0	0					g.chr6:34937945T>C	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.435+2T>C	chr6.hg19:g.34937945T>C		0					ANKS1A_ENST00000535627.1_Splice_Site		NM_015245.2	NP_056060.2	0	0	0	1.973144	Q92625	ANS1A_HUMAN		3	573	+			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	1	1	hg19		CCDS4798.1	1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026314	0.93518	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ANKS1A	35045923	35045923	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	6.290000	0.72712	2.367000	0.80283	0.528000	0.53228	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	XM_166478	Intron		43	41		169	166	1		1	1		0	0	60	0		1	3.582483e-01	0	6	0	0	0	43	169
ANKS1A	23294	broad.mit.edu	37	6	34953057	34953057	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622																																						ENST00000360359.3	1.000000	0.600000	1	7.400000e-01	0.920000	0.890632	0.920000	1.000000																										0				31						c.e8+2		ankyrin repeat and sterile alpha motif domain containing 1A							48.0	49.0	49.0					6																	34953057		2203	4300	6503	SO:0001630	splice_region_variant	23294	0	0					g.chr6:34953057T>G	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1209+2T>G	chr6.hg19:g.34953057T>G		0					ANKS1A_ENST00000535627.1_Intron		NM_015245.2	NP_056060.2	0	0	0	1.973144	Q92625	ANS1A_HUMAN		8	1347	+			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	1	1	hg19		CCDS4798.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054514	0.75960	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	.	.	.	5.74	5.74	0.90152	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ANKS1A	35061035	35061035	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.896000	0.63222	2.180000	0.69256	0.533000	0.62120	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	XM_166478	Intron		22	22		255	249	0		1	1		0	0	47	0		9.999987e-01	1.994085e-02	0	2	0	1	0	22	255
ANKS1A	23294	broad.mit.edu	37	6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	615					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582																																						ENST00000360359.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1843-1845)gCt>gAt		ankyrin repeat and sterile alpha motif domain containing 1A							115.0	134.0	128.0					6																	34985670		2203	4300	6503	SO:0001583	missense	23294	0	0					g.chr6:34985670C>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1844C>A	chr6.hg19:g.34985670C>A	ENSP00000353518:p.Ala615Asp	0					ANKS1A_ENST00000535627.1_Intron	p.A615D	NM_015245.2	NP_056060.2	0	0	0	1.973144	Q92625	ANS1A_HUMAN		11	1982	+			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	1	1	hg19	c.1844C>A	CCDS4798.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800076	0.50208	.	.	ENSG00000064999	ENST00000360359	T	0.39997	1.05	5.41	4.54	0.55810	5.41	4.54	0.55810	.	0.000000	0.48767	D	0.000161	T	0.45657	0.1353	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51356	-0.8716	10	0.72032	D	0.01	-10.4424	12.7754	0.57443	0.0:0.9237:0.0:0.0763	.	615	Q92625	ANS1A_HUMAN	D	615	ENSP00000353518:A615D	ENSP00000353518:A615D	A	+	2	0	0	ANKS1A	35093648	35093648	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.361000	0.44160	1.416000	0.47057	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	0	0	1		19	3	2	1		1	1	215		215	214	1	2.060000	-20.000000	1	0.170000	XM_166478			238	236		971	953	1		1	1		1	0	215	0		1	9.992884e-01	0	11	0	44	0	238	971
SCUBE3	222663	broad.mit.edu	37	6	35210976	35210976	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632																																						ENST00000274938.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1870-1872)tcC>tcA		signal peptide, CUB domain, EGF-like 3							40.0	49.0	46.0					6																	35210976		2203	4300	6503	SO:0001819	synonymous_variant	222663	0	0					g.chr6:35210976C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1872C>A	chr6.hg19:g.35210976C>A		0					SCUBE3_ENST00000394681.1_Silent_p.S640S	p.S624S	NM_152753.2	NP_689966.2	0	0	0	1.973144				15	1872	+				Silent	SNP	ENST00000274938.7	1	1	hg19	c.1872C>A	CCDS4800.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-3.443297	1	0.170000	NM_152753			77	76		303	296	1		1	0		0	0	40	0		1	1.872195e-01	0	0	0	4	0	77	303
ZNF76	7629	broad.mit.edu	37	6	35254112	35254112	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000339411.5_Silent_p.F56F|ZNF76_ENST00000440666.2_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	56	3 X 12 AA approximate repeats.				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)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999739	0.990000	1.000000																										0				16						c.(166-168)ttT>ttC		zinc finger protein 76							101.0	81.0	88.0					6																	35254112		2203	4300	6503	SO:0001819	synonymous_variant	7629	0	0					g.chr6:35254112T>C	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.168T>C	chr6.hg19:g.35254112T>C		0					ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	p.F56F	NM_003427.3	NP_003418.2	0	0	0	1.973144	P36508	ZNF76_HUMAN		4	434	+			Q9BQB2	Silent	SNP	ENST00000373953.3	1	1	hg19	c.168T>C	CCDS4801.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_003427			33	33		206	199	1		1	1		0	0	43	0		1	9.954476e-01	0	16	0	39	0	33	206
ZNF76	7629	broad.mit.edu	37	6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A|ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					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)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(337-339)gTa>gCa		zinc finger protein 76							105.0	91.0	95.0					6																	35255528		2203	4300	6503	SO:0001583	missense	7629	0	0					g.chr6:35255528T>C	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.338T>C	chr6.hg19:g.35255528T>C	ENSP00000363064:p.Val113Ala	0					ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	p.V113A	NM_003427.3	NP_003418.2	0	0	0	1.973144	P36508	ZNF76_HUMAN		5	604	+			Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	1	1	hg19	c.338T>C	CCDS4801.1	1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146691	0.37923	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09445	2.98;3.01;2.99;3.0	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.38897	N	0.001531	T	0.12518	0.0304	L	0.39397	1.21	0.45852	D	0.998718	P;D;B;B	0.61697	0.745;0.99;0.093;0.029	B;P;B;B	0.57371	0.251;0.819;0.026;0.012	T	0.01130	-1.1442	10	0.72032	D	0.01	.	14.3428	0.66639	0.0:0.0:0.0:1.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	A	113;113;113;113;87;113	ENSP00000419106:V113A;ENSP00000363064:V113A;ENSP00000392243:V87A;ENSP00000344097:V113A	ENSP00000229405:V113A	V	+	2	0	0	ZNF76	35363506	35363506	1.000000	0.71417	0.980000	0.43619	0.001000	0.01503	7.493000	0.81493	2.167000	0.68274	0.533000	0.62120	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_003427			41	40		172	171	0		1	1		0	0	48	0		1	9.999705e-01	0	21	0	49	0	41	172
DEF6	50619	broad.mit.edu	37	6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000542066.1_Missense_Mutation_p.D41V|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	296	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612																																						ENST00000316637.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998644	0.990000	1.000000																										0				15						c.(886-888)gAc>gTc		differentially expressed in FDCP 6 homolog (mouse)							45.0	41.0	42.0					6																	35285747		2203	4300	6503	SO:0001583	missense	50619	0	0					g.chr6:35285747A>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.887A>T	chr6.hg19:g.35285747A>T	ENSP00000319831:p.Asp296Val	0					DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.D41V	p.D296V	NM_022047.3	NP_071330.3	0	0	0	1.973144	Q9H4E7	DEFI6_HUMAN		6	892	+			Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	1	1	hg19	c.887A>T	CCDS4802.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.306036	0.95629	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32988	1.43;2.53	5.35	5.35	0.76521	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.987;0.987	T	0.66622	-0.5877	10	0.87932	D	0	-36.6858	13.9142	0.63887	1.0:0.0:0.0:0.0	.	41;296;296	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	V	41;296	ENSP00000442166:D41V;ENSP00000319831:D296V	ENSP00000319831:D296V	D	+	2	0	0	DEF6	35393725	35393725	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.035000	0.60131	0.377000	0.23210	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_022047			19	19		110	110	1		1	1		0	0	26	0		9.999945e-01	9.958929e-01	0	16	0	39	0	19	110
PPARD	5467	broad.mit.edu	37	6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	379	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|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)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|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.R379H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627																																						ENST00000311565.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R379H(1)	large_intestine(1)	23						c.(1135-1137)cGt>cAt		peroxisome proliferator-activated receptor delta	Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						112.0	98.0	103.0					6																	35393666		2203	4300	6503	SO:0001583	missense	5467	3	121412	36				g.chr6:35393666G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1136G>A	chr6.hg19:g.35393666G>A	ENSP00000310928:p.Arg379His	0					PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H	p.R379H	NM_001171818.1	NP_001165289.1	0	0	0	1.973144	Q03181	PPARD_HUMAN		9	1485	+			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	1	1	hg19	c.1136G>A	CCDS4803.1	1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922548	0.33908	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.05	2.1	0.27182	5.05	2.1	0.27182	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.453737	0.25708	N	0.028835	T	0.81997	0.4941	N	0.04335	-0.225	0.38358	D	0.944533	D;P;P	0.53151	0.958;0.882;0.95	P;B;B	0.44359	0.447;0.443;0.443	T	0.80141	-0.1506	10	0.17832	T	0.49	.	8.4014	0.32588	0.349:0.0:0.651:0.0	.	281;340;379	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	H	340;379;281;379;276	ENSP00000414372:R340H;ENSP00000353916:R379H;ENSP00000413314:R281H;ENSP00000310928:R379H;ENSP00000443759:R276H	ENSP00000310928:R379H	R	+	2	0	0	PPARD	35501644	35501644	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	1.886000	0.39688	0.434000	0.26340	0.561000	0.74099	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_006238			71	71		264	258	1		1	1		0	0	64	0		1	9.999999e-01	0	22	0	70	0	71	264
RPL10A	4736	broad.mit.edu	37	6	35438416	35438416	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	ENST00000322203.6	+	6	570	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	181					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)			breast(1)|large_intestine(2)|ovary(1)	4						AGCTTGTGTATAACATTCACC	0.502																																						ENST00000322203.6	0.580000	0.170000	4.600000e-01	2.500000e-01	0.340000	0.362915	0.340000	0.330000																										0				4						c.(541-543)taT>taA		ribosomal protein L10a							135.0	122.0	126.0					6																	35438416		2203	4300	6503	SO:0001587	stop_gained	4736	0	0					g.chr6:35438416T>A	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.543T>A	chr6.hg19:g.35438416T>A	ENSP00000363018:p.Tyr181*	0					RPL10A_ENST00000467020.1_3'UTR	p.Y181*	NM_007104.4	NP_009035.3	0	0	0	1.973144	P62906	RL10A_HUMAN		6	570	+			B2R801|P52859|P53025|Q5TZT6|Q8J013	Nonsense_Mutation	SNP	ENST00000322203.6	0	1	hg19	c.543T>A	CCDS4806.1	0	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728087	0.48833	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.67	-0.317	0.12736	4.67	-0.317	0.12736	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.8598	0.35249	0.0:0.5867:0.0:0.4133	.	.	.	.	X	181	.	ENSP00000363018:Y181X	Y	+	3	2	2	RPL10A	35546394	35546394	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	1.733000	0.38156	-0.163000	0.10946	-0.441000	0.05720	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.475151	1	0.170000	NM_007104			10	10		335	316	0		1	1		0	0	88	0		9.959946e-01	1	0	204	0	2919	0	10	335
TEAD3	7005	broad.mit.edu	37	6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000402886.3	-	10	1075	c.922T>C	c.(922-924)Tgc>Cgc	p.C308R	TEAD3_ENST00000338863.7_Missense_Mutation_p.C368R			Q99594	TEAD3_HUMAN	TEA domain family member 3	368	Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557																																						ENST00000402886.3	1.000000	0.700000	1	8.500000e-01	0.990000	0.945187	0.990000	1.000000																										0				10						c.(922-924)Tgc>Cgc		TEA domain family member 3							99.0	97.0	98.0					6																	35443205		2203	4300	6503	SO:0001583	missense	7005	0	0					g.chr6:35443205A>G	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.922T>C	chr6.hg19:g.35443205A>G	ENSP00000384577:p.Cys308Arg	0					TEAD3_ENST00000338863.7_Missense_Mutation_p.C368R	p.C308R			0	0	0	1.973144	Q99594	TEAD3_HUMAN		10	1075	-			O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	1	1	hg19	c.922T>C		1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076978	0.76415	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	T;T	0.32988	1.43;1.43	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73575	-0.3939	10	0.87932	D	0	-32.1485	14.5092	0.67772	1.0:0.0:0.0:0.0	.	308;384;368	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	R	368;308;384	ENSP00000345772:C368R;ENSP00000384577:C308R	ENSP00000345772:C368R	C	-	1	0	0	TEAD3	35551183	35551183	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.265000	0.95647	2.023000	0.59567	0.374000	0.22700	TGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				30	30		312	309	1		1	1		0	0	84	0		1	9.999532e-01	0	16	0	145	0	30	312
TULP1	7287	broad.mit.edu	37	6	35466170	35466170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	521					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				19						c.(1561-1563)ccG>ccA		tubby like protein 1							45.0	45.0	45.0					6																	35466170		2203	4300	6503	SO:0001819	synonymous_variant	7287	0	0					g.chr6:35466170C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1563G>A	chr6.hg19:g.35466170C>T		0					TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Silent_p.P468P	p.P521P	NM_003322.3	NP_003313.3	0	0	0	1.973144	O00294	TULP1_HUMAN		15	1642	-			O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	1	1	hg19	c.1563G>A	CCDS4807.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000				32	31		141	139	1		1			0	0	26	0		1	0	0	0	0	0	0	32	141
FKBP5	2289	broad.mit.edu	37	6	35587999	35587999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000539068.1	-	4	505	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Silent_p.E101E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	101	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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433																																						ENST00000539068.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(301-303)gaG>gaA		FK506 binding protein 5							165.0	136.0	146.0					6																	35587999		2203	4300	6503	SO:0001819	synonymous_variant	2289	0	0					g.chr6:35587999C>T	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.303G>A	chr6.hg19:g.35587999C>T		0					FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E	p.E101E	NM_001145776.1	NP_001139248.1	0	0	0	1.973144	Q13451	FKBP5_HUMAN		4	505	-			F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	1	1	hg19	c.303G>A	CCDS4808.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2	1	0	1		2	2	2	0		0	0	97		97	89	1	2.060000	-3.993444	1	0.170000				84	86		306	288	1		1	1		0	0	97	0		1	1	0	72	0	595	0	84	306
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000373853.1	+	1	621	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000360215.1_Silent_p.G81G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81					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)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572																																						ENST00000373853.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(241-243)ggC>ggT		lipoma HMGIC fusion partner-like 5							211.0	202.0	205.0					6																	35773690		2203	4300	6503	SO:0001819	synonymous_variant	222662	0	0					g.chr6:35773690C>T	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.243C>T	chr6.hg19:g.35773690C>T		0					LHFPL5_ENST00000360215.1_Silent_p.G81G	p.G81G			0	0	0	1.973144	Q8TAF8	TMHS_HUMAN		1	621	+			B3KX66	Silent	SNP	ENST00000373853.1	1	1	hg19	c.243C>T	CCDS4812.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	1	0	1		2	2	2	0		0	0	214		214	213	1	2.060000	-20.000000	1	0.170000	NM_182548			198	192		846	830	1		1	0		0	0	214	0		1	0	0	0	0	1	0	198	846
LHFPL5	222662	broad.mit.edu	37	6	35782423	35782423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000373853.1	+	2	891	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000360215.1_Silent_p.G171G|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	171					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)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622																																						ENST00000373853.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(511-513)ggC>ggT		lipoma HMGIC fusion partner-like 5							181.0	111.0	135.0					6																	35782423		2203	4300	6503	SO:0001819	synonymous_variant	222662	0	0					g.chr6:35782423C>T	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.513C>T	chr6.hg19:g.35782423C>T		0					LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Silent_p.G171G	p.G171G			0	0	0	1.973144	Q8TAF8	TMHS_HUMAN		2	891	+			B3KX66	Silent	SNP	ENST00000373853.1	1	1	hg19	c.513C>T	CCDS4812.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_182548			57	56		306	301	1		1			0	0	53	0		1	0	0	0	0	0	0	57	306
SRPK1	6732	broad.mit.edu	37	6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999811	0.990000	1.000000																										0				21						c.(571-573)aaA>aaC		SRSF protein kinase 1							89.0	82.0	84.0					6																	35842022		1843	4100	5943	SO:0001583	missense	6732	0	0					g.chr6:35842022T>G	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.573A>C	chr6.hg19:g.35842022T>G	ENSP00000362931:p.Lys191Asn	0					SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N	p.K191N			0	0	0	1.973144				7	858	-				Missense_Mutation	SNP	ENST00000373825.2	0	1	hg19	c.573A>C	CCDS47415.1	1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834841	0.50951	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	5.01	0.66863	6.17	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30479	0.0766	N	0.12961	0.28	0.43846	D	0.996439	B;P	0.36660	0.141;0.564	B;B	0.37480	0.087;0.251	T	0.29458	-1.0011	9	0.45353	T	0.12	-18.5937	5.8954	0.18937	0.0:0.1843:0.1347:0.681	.	175;191	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	191;207;175;84	ENSP00000362931:K191N;ENSP00000354674:K207N;ENSP00000391069:K175N;ENSP00000362928:K84N	ENSP00000354674:K207N	K	-	3	2	2	SRPK1	35950000	35950000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.950000	0.40323	1.151000	0.42436	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_003137			17	17		66	64	1		1	1		0	0	10	0		9.999788e-01	9.996361e-01	0	9	0	48	0	17	66
SLC26A8	116369	broad.mit.edu	37	6	35927364	35927364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35927364T>C	ENST00000490799.1	-	16	2089	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											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						CTTTACCATATCAACCTGAAA	0.453																																						ENST00000490799.1	0.540000	0.210000	4.500000e-01	2.700000e-01	0.350000	0.369488	0.350000	0.350000																										0				46						c.(1735-1737)gAt>gGt		solute carrier family 26 (anion exchanger), member 8							95.0	96.0	96.0					6																	35927364		2203	4300	6503	SO:0001583	missense	116369	0	0					g.chr6:35927364T>C	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.1736A>G	chr6.hg19:g.35927364T>C	ENSP00000417638:p.Asp579Gly	0					SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	p.D579G	NM_052961.3	NP_443193.1	0	0	0	1.973144				16	2089	-				Missense_Mutation	SNP	ENST00000490799.1	1	1	hg19	c.1736A>G	CCDS4813.1	0	.	.	.	.	.	.	.	.	.	.	T	9.879	1.201168	0.22121	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87103	-2.21;-2.21;-2.21	5.49	-2.78	0.05859	5.49	-2.78	0.05859	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.868246	0.10236	N	0.699075	T	0.47173	0.1431	N	0.20685	0.6	0.09310	N	1	B;B;B	0.18461	0.005;0.003;0.028	B;B;B	0.16722	0.011;0.005;0.016	T	0.48990	-0.8985	10	0.02654	T	1	.	6.4329	0.21807	0.0:0.3828:0.1352:0.482	.	579;474;161	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	G	579;474;579	ENSP00000417638:D579G;ENSP00000378100:D474G;ENSP00000347778:D579G	ENSP00000347778:D579G	D	-	2	0	0	SLC26A8	36035342	36035342	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.361000	0.20267	-0.844000	0.04184	-1.437000	0.01076	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-3.398227	1	0.170000				17	17		542	531	0		1			0	0	105	0		9.999594e-01	0	0	0	0	0	0	17	542
SLC26A8	116369	broad.mit.edu	37	6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											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						ATGGACATTTGATGACACGAT	0.403																																						ENST00000490799.1	1.000000	0.900000	1	9.900000e-01	0.990000	0.993396	0.990000	1.000000																										0				46						c.(433-435)Caa>Taa		solute carrier family 26 (anion exchanger), member 8							160.0	163.0	162.0					6																	35967781		2203	4300	6503	SO:0001587	stop_gained	116369	0	0					g.chr6:35967781G>A	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.433C>T	chr6.hg19:g.35967781G>A	ENSP00000417638:p.Gln145*	0					SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	p.Q145*	NM_052961.3	NP_443193.1	0	0	0	1.973144				4	786	-				Nonsense_Mutation	SNP	ENST00000490799.1	0	1	hg19	c.433C>T	CCDS4813.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.329593	0.98214	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.163089	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0345	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000347778:Q145X	Q	-	1	0	0	SLC26A8	36075759	36075759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.694000	0.91930	0.655000	0.94253	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-19.999870	1	0.170000				87	86		812	800	1		1			0	0	156	0		1	0	0	0	0	0	0	87	812
BRPF3	27154	broad.mit.edu	37	6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	514					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)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512																																						ENST00000357641.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1540-1542)Cgg>Tgg		bromodomain and PHD finger containing, 3							118.0	111.0	113.0					6																	36172526		2203	4300	6503	SO:0001583	missense	27154	0	0					g.chr6:36172526C>T	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.1540C>T	chr6.hg19:g.36172526C>T	ENSP00000350267:p.Arg514Trp	0					BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W	p.R514W	NM_015695.2	NP_056510.2	0	0	0	1.973144	Q9ULD4	BRPF3_HUMAN		3	1793	+			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	1	1	hg19	c.1540C>T	CCDS34437.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757713	0.49468	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.28255	1.88;1.99;1.98;1.99;1.98;1.62	5.43	2.2	0.27929	5.43	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.78223	2.4	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	T	0.53865	-0.8378	10	0.87932	D	0	.	13.1546	0.59509	0.7058:0.2942:0.0:0.0	.	514;514;514	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	514;514;514;514;514;514;60	ENSP00000350267:R514W;ENSP00000345419:R514W;ENSP00000434501:R514W;ENSP00000445352:R514W;ENSP00000387368:R514W;ENSP00000436504:R514W	ENSP00000345419:R514W	R	+	1	2	2	BRPF3	36280504	36280504	0.854000	0.29725	0.992000	0.48379	0.996000	0.88848	1.755000	0.38379	0.588000	0.29660	0.557000	0.71058	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_015695			107	103		575	565	1		1	1		0	0	124	0		1	9.983392e-01	0	14	0	39	0	107	575
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Splice_Site_p.G727G|BRPF3_ENST00000534400.1_Splice_Site_p.G997G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					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.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537																																						ENST00000357641.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G997G(1)	ovary(1)	40						c.(2989-2991)ggC>ggT		bromodomain and PHD finger containing, 3							148.0	122.0	131.0					6																	36185695		2203	4300	6503	SO:0001630	splice_region_variant	27154	1	121412	27				g.chr6:36185695C>T	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.2990-1C>T	chr6.hg19:g.36185695C>T		0					BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Splice_Site_p.G727G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000534400.1_Splice_Site_p.G997G	p.G997G	NM_015695.2	NP_056510.2	0	0	0	1.973144	Q9ULD4	BRPF3_HUMAN		9	3244	+			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Splice_Site	SNP	ENST00000357641.6	1	0	hg19	c.2991C>T	CCDS34437.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-3.400518	1	0.170000	NM_015695	Silent		45	44		212	208	1		1	1		0	0	68	0		1	9.999338e-01	0	10	0	61	0	45	212
BRPF3	27154	broad.mit.edu	37	6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1009					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.G1009W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	0.512																																						ENST00000357641.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G1009W(1)	lung(1)	40						c.(3025-3027)Ggg>Agg		bromodomain and PHD finger containing, 3							180.0	146.0	157.0					6																	36185729		2203	4300	6503	SO:0001583	missense	27154	0	0					g.chr6:36185729G>A	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.3025G>A	chr6.hg19:g.36185729G>A	ENSP00000350267:p.Gly1009Arg	0					BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R	p.G1009R	NM_015695.2	NP_056510.2	0	0	0	1.973144	Q9ULD4	BRPF3_HUMAN		9	3278	+			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	1	1	hg19	c.3025G>A	CCDS34437.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.660639|2.660639	0.47572|0.47572	.|.	.|.	ENSG00000096070|ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400|ENST00000394572	T;T;T;T|.	0.17691|.	2.47;2.26;2.26;2.3|.	6.05|6.05	6.05|6.05	0.98169|0.98169	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.311404|.	0.35970|.	N|.	0.002867|.	T|T	0.48554|0.48554	0.1506|0.1506	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.474;0.999|.	B;D|.	0.62955|.	0.124;0.909|.	T|T	0.48222|0.48222	-0.9054|-0.9054	10|6	0.12766|0.42905	T|T	0.61|0.14	.|.	20.1963|20.1963	0.98243|0.98243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;1009|.	Q17RB6;Q9ULD4|.	.;BRPF3_HUMAN|.	R|Q	1009;739;739;1009|422	ENSP00000350267:G1009R;ENSP00000345419:G739R;ENSP00000445352:G739R;ENSP00000436504:G1009R|.	ENSP00000345419:G739R|ENSP00000378073:R422Q	G|R	+|+	1|2	0|0	0|0	BRPF3|BRPF3	36293707|36293707	36293707|36293707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.998000|4.998000	0.63927|0.63927	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-2.468185	0	0.170000	NM_015695			59	57		251	245	1		1	1		0	0	73	0		1	9.999884e-01	0	16	0	58	0	59	251
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T	rs187453727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		18421	0.0069		0.0	False		,,,				2504	0.0					ENST00000394571.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(625-627)caC>caT		patatin-like phospholipase domain containing 1							103.0	83.0	90.0					6																	36262089		2203	4300	6503	SO:0001819	synonymous_variant	285848	84	121412	50				g.chr6:36262089C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.627C>T	chr6.hg19:g.36262089C>T		0					PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	p.H209H	NM_001145717.1	NP_001139189.2	0	0	0	1.973144	Q8N8W4	PLPL1_HUMAN		4	627	+			A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	1	1	hg19	c.627C>T	CCDS54997.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_173676			79	79		348	341	1		1			0	0	97	0		1	0	0	0	0	0	0	79	348
C6orf222	389384	broad.mit.edu	37	6	36298366	36298366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642																																						ENST00000437635.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(100-102)tgC>tgT		chromosome 6 open reading frame 222							53.0	59.0	57.0					6																	36298366		2203	4300	6503	SO:0001819	synonymous_variant	389384	0	0					g.chr6:36298366G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.102C>T	chr6.hg19:g.36298366G>A		0						p.C34C	NM_001010903.4	NP_001010903.3	0	0	0	1.973144	P0C671	CF222_HUMAN		2	279	-			B2RTY8	Silent	SNP	ENST00000437635.2	1	1	hg19	c.102C>T	CCDS34439.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	1	0	1		2	2	2	0		0	0	108		108	105	1	2.060000	-20.000000	1	0.170000	NM_001010903			112	106		488	482	0		1	1		0	0	108	0		1	8.275810e-01	0	5	0	11	0	112	488
ETV7	51513	broad.mit.edu	37	6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000340181.4	-	6	1025	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	262					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537																																						ENST00000340181.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(784-786)Gcc>Acc		ets variant 7							198.0	181.0	187.0					6																	36336729		2203	4300	6503	SO:0001583	missense	51513	0	0					g.chr6:36336729C>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.784G>A	chr6.hg19:g.36336729C>T	ENSP00000341843:p.Ala262Thr	0					ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T	p.A262T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	0	0	0	1.973144	Q9Y603	ETV7_HUMAN		6	1025	-			B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	1	1	hg19	c.784G>A	CCDS4819.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.221298	0.95139	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.18	4.18	0.49190	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.143577	0.46145	U	0.000312	T	0.61874	0.2382	M	0.91818	3.245	0.58432	D	0.999995	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;0.998;1.0	T	0.74182	-0.3748	10	0.87932	D	0	.	16.1147	0.81301	0.0:1.0:0.0:0.0	.	203;185;207;262;207;262	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	262;262;185;207;111	ENSP00000342260:A262T;ENSP00000341843:A262T;ENSP00000362842:A185T;ENSP00000362843:A207T;ENSP00000440592:A111T	ENSP00000342260:A262T	A	-	1	0	0	ETV7	36444707	36444707	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.976000	0.76135	1.865000	0.54081	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	1	0	1		2	2	2	0		0	0	157		157	154	1	2.060000	-3.330675	1	0.170000	NM_016135			135	133		648	642	1		1	1		0	0	157	0		1	1	0	29	0	99	0	135	648
CPNE5	57699	broad.mit.edu	37	6	36710162	36710162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	555						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCATGTAGGACACCAGTTGGT	0.687																																						ENST00000244751.2	0.600000	0.270000	5.200000e-01	3.400000e-01	0.420000	0.435512	0.420000	0.420000																										0				25						c.(1663-1665)gtG>gtA		copine V							120.0	102.0	108.0					6																	36710162		2203	4300	6503	SO:0001819	synonymous_variant	57699	0	0					g.chr6:36710162C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1665G>A	chr6.hg19:g.36710162C>T		0					CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	p.V555V	NM_020939.1	NP_065990.1	0	0	0	1.973144	Q9HCH3	CPNE5_HUMAN		21	2289	-			Q7Z6C8	Silent	SNP	ENST00000244751.2	1	1	hg19	c.1665G>A	CCDS4825.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	0	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-19.969850	1	0.170000	NM_020939			24	24		636	632	0		1	0		0	0	106	0		9.999996e-01	6.389727e-02	0	0	0	11	0	24	636
CPNE5	57699	broad.mit.edu	37	6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	360	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612																																						ENST00000244751.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				25						c.(1078-1080)gCg>gTg		copine V							101.0	93.0	95.0					6																	36714294		2203	4300	6503	SO:0001583	missense	57699	0	0					g.chr6:36714294G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1079C>T	chr6.hg19:g.36714294G>A	ENSP00000244751:p.Ala360Val	0					CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	p.A360V	NM_020939.1	NP_065990.1	0	0	0	1.973144	Q9HCH3	CPNE5_HUMAN		16	1703	-			Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	1	1	hg19	c.1079C>T	CCDS4825.1	1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437808	0.62955	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.22539	1.95;1.95	4.77	4.77	0.60923	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.46614	1.455	0.80722	D	1	P	0.36412	0.552	B	0.38880	0.284	T	0.02797	-1.1109	10	0.49607	T	0.09	.	15.2842	0.73814	0.0:0.0:1.0:0.0	.	360	Q9HCH3	CPNE5_HUMAN	V	360;68	ENSP00000244751:A360V;ENSP00000376885:A68V	ENSP00000244751:A360V	A	-	2	0	0	CPNE5	36822272	36822272	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	3.686000	0.54685	2.193000	0.70182	0.491000	0.48974	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-19.999990	1	0.170000	NM_020939			53	53		301	293	1		1	0		0	0	84	0		1	8.901672e-01	0	0	0	24	0	53	301
CPNE5	57699	broad.mit.edu	37	6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	238	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522																																						ENST00000244751.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(712-714)gCc>gAc		copine V							191.0	155.0	167.0					6																	36742762		2203	4300	6503	SO:0001583	missense	57699	0	0					g.chr6:36742762G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.713C>A	chr6.hg19:g.36742762G>T	ENSP00000244751:p.Ala238Asp	0						p.A238D	NM_020939.1	NP_065990.1	0	0	0	1.973144	Q9HCH3	CPNE5_HUMAN		10	1337	-			Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	1	1	hg19	c.713C>A	CCDS4825.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276253	0.40294	.	.	ENSG00000124772	ENST00000244751	T	0.38240	1.15	5.28	4.4	0.53042	5.28	4.4	0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107348	0.64402	D	0.000007	T	0.12860	0.0312	N	0.10685	0.025	0.80722	D	1	B	0.24576	0.106	B	0.35899	0.213	T	0.11446	-1.0587	10	0.62326	D	0.03	.	12.2525	0.54605	0.0:0.3298:0.6702:0.0	.	238	Q9HCH3	CPNE5_HUMAN	D	238	ENSP00000244751:A238D	ENSP00000244751:A238D	A	-	2	0	0	CPNE5	36850740	36850740	1.000000	0.71417	0.994000	0.49952	0.302000	0.27658	9.282000	0.95840	1.187000	0.43000	0.448000	0.29417	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-19.999990	1	0.170000	NM_020939			38	37		142	138	1		1	0		0	0	51	0		1	4.683841e-02	0	0	0	2	0	38	142
PPIL1	51645	broad.mit.edu	37	6	36824411	36824411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	77	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458																																						ENST00000373699.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999815	0.990000	1.000000																										0				2						c.(229-231)atC>atT		peptidylprolyl isomerase (cyclophilin)-like 1							121.0	107.0	112.0					6																	36824411		2203	4300	6503	SO:0001819	synonymous_variant	51645	0	0					g.chr6:36824411G>A	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.231C>T	chr6.hg19:g.36824411G>A		0					PPIL1_ENST00000483552.1_5'UTR	p.I77I	NM_016059.4	NP_057143.1	0	0	0	1.973144	Q9Y3C6	PPIL1_HUMAN		3	482	-			O15001|Q5TDC9	Silent	SNP	ENST00000373699.5	1	1	hg19	c.231C>T	CCDS4826.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-3.228811	1	0.170000				32	32		192	190	1		1	1		0	0	62	0		1	9.999978e-01	0	37	0	90	0	32	192
FGD2	221472	broad.mit.edu	37	6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	332	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)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632																																						ENST00000274963.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(994-996)cGc>cAc		FYVE, RhoGEF and PH domain containing 2							68.0	57.0	61.0					6																	36982780		2203	4300	6503	SO:0001583	missense	221472	2	121412	30				g.chr6:36982780G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.995G>A	chr6.hg19:g.36982780G>A	ENSP00000274963:p.Arg332His	0						p.R332H	NM_173558.3	NP_775829.2	0	0	0	1.973144	Q7Z6J4	FGD2_HUMAN		8	1166	+			Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	1	1	hg19	c.995G>A	CCDS4829.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006673	0.93287	.	.	ENSG00000146192	ENST00000274963	T	0.78126	-1.15	4.57	4.57	0.56435	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43260	D	0.000593	D	0.84279	0.5437	M	0.63843	1.955	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	0.4254	17.1483	0.86772	0.0:0.0:1.0:0.0	.	332	Q7Z6J4	FGD2_HUMAN	H	332	ENSP00000274963:R332H	ENSP00000274963:R332H	R	+	2	0	0	FGD2	37090758	37090758	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.847000	0.55895	2.367000	0.80283	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_173558			48	46		215	209	1		1	0		0	0	66	0		1	9.987227e-01	0	0	0	48	0	48	215
RNF8	9025	broad.mit.edu	37	6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T	rs577308187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	152					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21089	0.0		0.0	False		,,,				2504	0.001					ENST00000373479.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(454-456)aCt>aTt		ring finger protein 8, E3 ubiquitin protein ligase							50.0	52.0	51.0					6																	37336474		2203	4300	6503	SO:0001583	missense	9025	0	0					g.chr6:37336474C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.455C>T	chr6.hg19:g.37336474C>T	ENSP00000362578:p.Thr152Ile	0					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	0	0	0	1.973144	O76064	RNF8_HUMAN		3	648	+			A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	1	1	hg19	c.455C>T	CCDS4834.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283628	0.80803	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.84442	-1.85;0.64;0.77	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.187543	0.47455	D	0.000222	D	0.84370	0.5457	M	0.69823	2.125	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	D	0.86284	0.1669	10	0.62326	D	0.03	-4.7932	19.1613	0.93533	0.0:1.0:0.0:0.0	.	95;152	C9J858;O76064	.;RNF8_HUMAN	I	152;95;152	ENSP00000362578:T152I;ENSP00000417736:T95I;ENSP00000418879:T152I	ENSP00000362578:T152I	T	+	2	0	0	RNF8	37444452	37444452	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.212000	0.72188	2.768000	0.95171	0.655000	0.94253	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				60	60		264	258	1		1	1		0	0	60	0		1	9.999696e-01	0	18	0	52	0	60	264
RNF8	9025	broad.mit.edu	37	6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	427					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423																																						ENST00000373479.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1279-1281)Atc>Gtc		ring finger protein 8, E3 ubiquitin protein ligase							155.0	144.0	147.0					6																	37348968		2203	4300	6503	SO:0001583	missense	9025	1	121412	32				g.chr6:37348968A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1279A>G	chr6.hg19:g.37348968A>G	ENSP00000362578:p.Ile427Val	0					RNF8_ENST00000469731.1_Intron	p.I427V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	0	0	0	1.973144	O76064	RNF8_HUMAN		7	1472	+			A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	1	1	hg19	c.1279A>G	CCDS4834.1	1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804781	0.90623	.	.	ENSG00000112130	ENST00000373479	T	0.73258	-0.73	5.98	5.98	0.97165	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74535	-0.3633	10	0.48119	T	0.1	-7.7491	15.6539	0.77118	1.0:0.0:0.0:0.0	.	427	O76064	RNF8_HUMAN	V	427	ENSP00000362578:I427V	ENSP00000362578:I427V	I	+	1	0	0	RNF8	37456946	37456946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000				118	115		547	538	1		1	1		0	0	119	0		1	9.999986e-01	0	24	0	65	0	118	547
MDGA1	266727	broad.mit.edu	37	6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.3	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	954					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)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637																																						ENST00000434837.3	0.790000	0.300000	6.600000e-01	3.900000e-01	0.510000	0.532335	0.510000	0.500000																										0				38						c.(2860-2862)Cag>Tag		MAM domain containing glycosylphosphatidylinositol anchor 1							40.0	45.0	43.0					6																	37605152		2031	4172	6203	SO:0001587	stop_gained	266727	0	0					g.chr6:37605152G>A	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.2860C>T	chr6.hg19:g.37605152G>A	ENSP00000402584:p.Gln954*	0					MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	p.Q954*	NM_153487.3	NP_705691.1	0	0	0	1.973144	Q8NFP4	MDGA1_HUMAN		17	4038	-			A6NHG0|Q8NBE3	Nonsense_Mutation	SNP	ENST00000434837.3	0	1	hg19	c.2860C>T	CCDS47417.1	0	.	.	.	.	.	.	.	.	.	.	G	50	16.214899	0.99857	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.77	3.88	0.44766	4.77	3.88	0.44766	.	3.543960	0.00921	N	0.002591	.	.	.	.	.	.	0.24366	N	0.99486	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.8523	0.57864	0.0:0.1656:0.8344:0.0	.	.	.	.	X	954;958	.	ENSP00000297153:Q958X	Q	-	1	0	0	MDGA1	37713130	37713130	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.265000	0.58865	1.090000	0.41315	0.555000	0.69702	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-15.954500	1	0.170000				15	15		327	321	0		1	0		0	0	76	0		9.998628e-01	1.713914e-01	0	0	0	16	0	15	327
MDGA1	266727	broad.mit.edu	37	6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.3	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	388	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)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587																																						ENST00000434837.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1162-1164)cGc>cAc		MAM domain containing glycosylphosphatidylinositol anchor 1							59.0	64.0	63.0					6																	37619936		2039	4162	6201	SO:0001583	missense	266727	3	120952	37				g.chr6:37619936C>T	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.1163G>A	chr6.hg19:g.37619936C>T	ENSP00000402584:p.Arg388His	0					MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H|MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H	p.R388H	NM_153487.3	NP_705691.1	0	0	0	1.973144	Q8NFP4	MDGA1_HUMAN		7	2341	-			A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	1	1	hg19	c.1163G>A	CCDS47417.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238185	0.79800	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	5.36	0.76844	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000519	T	0.73385	0.3580	L	0.50993	1.605	0.47584	D	0.999464	D	0.89917	1.0	D	0.85130	0.997	T	0.71728	-0.4505	10	0.40728	T	0.16	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	388	Q8NFP4	MDGA1_HUMAN	H	388	ENSP00000402584:R388H;ENSP00000297153:R388H;ENSP00000422042:R388H	ENSP00000297153:R388H	R	-	2	0	0	MDGA1	37727914	37727914	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.214000	0.42853	2.524000	0.85096	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-2.971455	1	0.170000				59	59		325	316	1		1	0		0	0	80	0		1	7.600164e-01	0	0	0	17	0	59	325
BTBD9	114781	broad.mit.edu	37	6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000481247.1	-	7	1320	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G|BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	390					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388																																						ENST00000481247.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1168-1170)gTt>gGt		BTB (POZ) domain containing 9							91.0	85.0	87.0					6																	38312855		1836	4097	5933	SO:0001583	missense	114781	0	0					g.chr6:38312855A>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1169T>G	chr6.hg19:g.38312855A>C	ENSP00000418751:p.Val390Gly	0					BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G|BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G	p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	0	0	0	1.973144	Q96Q07	BTBD9_HUMAN		7	1320	-			Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	1	1	hg19	c.1169T>G	CCDS47418.1	1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245619	0.39697	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.23;-4.85;-4.85	5.45	5.45	0.79879	5.45	5.45	0.79879	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.86953	2.85	0.80722	D	1	B;D	0.59357	0.003;0.985	B;D	0.73708	0.003;0.981	D	0.99840	1.1061	10	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	360;390	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	322;390;360;390;322	ENSP00000323408:V322G;ENSP00000418751:V390G;ENSP00000415365:V360G;ENSP00000386121:V390G;ENSP00000386211:V322G	ENSP00000323408:V322G	V	-	2	0	0	BTBD9	38420833	38420833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.179000	0.89692	2.073000	0.62155	0.383000	0.25322	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_152733			56	53		249	246	1		1	1		0	0	86	0		1	9.796711e-01	0	9	0	21	0	56	249
GLO1	2739	broad.mit.edu	37	6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	167					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GTAGCCATCAGGATCTTGAAT	0.303																																						ENST00000373365.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(499-501)cCt>cTt		glyoxalase I	Glutathione(DB00143)|Indomethacin(DB00328)						80.0	81.0	81.0					6																	38645126		2203	4300	6503	SO:0001583	missense	2739	0	0					g.chr6:38645126G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.500C>T	chr6.hg19:g.38645126G>A	ENSP00000362463:p.Pro167Leu	0					GLO1_ENST00000470973.1_5'UTR	p.P167L	NM_006708.2	NP_006699.2	0	0	0	1.973144	Q04760	LGUL_HUMAN		6	586	-			B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	1	1	hg19	c.500C>T	CCDS4837.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356336	0.82243	.	.	ENSG00000124767	ENST00000373365	T	0.60299	0.2	5.92	5.06	0.68205	5.92	5.06	0.68205	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91455	0.5184	10	0.87932	D	0	-20.8734	15.1386	0.72590	0.0676:0.0:0.9324:0.0	.	167	Q04760	LGUL_HUMAN	L	167	ENSP00000362463:P167L	ENSP00000362463:P167L	P	-	2	0	0	GLO1	38753104	38753104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.763000	0.91715	1.518000	0.48934	-0.140000	0.14226	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.141754	1	0.170000	NM_006708			57	57		234	230	1		1	1		0	0	67	0		1	1	0	113	0	416	0	57	234
DNAH8	1769	broad.mit.edu	37	6	38691111	38691111	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	ENST00000359357.3	+	2	78		c.e2-1		DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCATTCCTTAGGCAAGATTT	0.313																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				260						c.e2-1		dynein, axonemal, heavy chain 8							104.0	110.0	108.0					6																	38691111		876	1991	2867	SO:0001630	splice_region_variant	1769	0	0					g.chr6:38691111A>G	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.-176-1A>G	chr6.hg19:g.38691111A>G		0					DNAH8_ENST00000449981.2_Splice_Site				0	0	0	1.973144	Q96JB1	DYH8_HUMAN		2	78	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597436	0.66332	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DNAH8	38799089	38799089	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	5.976000	0.70484	2.146000	0.66826	0.533000	0.62120	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.399621	1	0.170000	NM_001206927	Intron		77	77		349	339	1		1			0	0	82	0		1	0	0	0	0	0	0	77	349
DNAH8	1769	broad.mit.edu	37	6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M|DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	415					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				260						c.(1243-1245)Ctg>Atg		dynein, axonemal, heavy chain 8							87.0	101.0	96.0					6																	38743659		2202	4284	6486	SO:0001583	missense	1769	0	0					g.chr6:38743659C>A	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.1243C>A	chr6.hg19:g.38743659C>A	ENSP00000352312:p.Leu415Met	0					DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M	p.L415M			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		11	1497	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	1	1	hg19	c.1243C>A		1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277399	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64618	-0.11;-0.11;-0.11	5.93	4.17	0.49024	5.93	4.17	0.49024	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000007	T	0.71584	0.3357	M	0.81497	2.545	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.75451	-0.3313	10	0.59425	D	0.04	.	11.2443	0.48987	0.0:0.8568:0.0:0.1432	.	415	Q96JB1	DYH8_HUMAN	M	620;620;415;415	ENSP00000333363:L620M;ENSP00000352312:L415M;ENSP00000402294:L415M	ENSP00000333363:L620M	L	+	1	2	2	DNAH8	38851637	38851637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.555000	0.45854	0.866000	0.35629	-0.150000	0.13652	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	0	0	1		14	2	2	1		1	1	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_001206927			73	73		440	437	1		1			1	0	137	0		1	0	0	0	0	0	0	73	440
DNAH8	1769	broad.mit.edu	37	6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A	rs201712851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M|DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	944					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				260						c.(2830-2832)Gtg>Atg		dynein, axonemal, heavy chain 8							80.0	66.0	71.0					6																	38783391		2203	4300	6503	SO:0001583	missense	1769	0	0					g.chr6:38783391G>A	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.2830G>A	chr6.hg19:g.38783391G>A	ENSP00000352312:p.Val944Met	0					DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M	p.V944M			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		24	3084	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	1	1	hg19	c.2830G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.767	0.925106	0.18056	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.82;1.81;1.78	5.01	-9.35	0.00633	5.01	-9.35	0.00633	.	2.459610	0.02175	N	0.060021	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	10	0.39692	T	0.17	.	6.0353	0.19704	0.1949:0.1663:0.5118:0.1269	.	944	Q96JB1	DYH8_HUMAN	M	1149;1149;944;944	ENSP00000333363:V1149M;ENSP00000352312:V944M;ENSP00000402294:V944M	ENSP00000333363:V1149M	V	+	1	0	0	DNAH8	38891369	38891369	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.233000	0.00139	-2.059000	0.00894	-0.866000	0.03004	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_001206927			46	45		160	153	1		1			0	0	47	0		1	0	0	0	0	0	0	46	160
DNAH8	1769	broad.mit.edu	37	6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A	rs201917454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	963					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGAAGAAGCTATTCCTGC	0.343																																						ENST00000359357.3	1.000000	0.590000	1	7.800000e-01	0.990000	0.918586	0.990000	1.000000																										0				260						c.(2887-2889)Gct>Act		dynein, axonemal, heavy chain 8		G	THR/ALA	0,4406		0,0,2203	36.0	38.0	37.0		3538	-6.8	0.0	6		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAH8	NM_001206927.1	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1180/4708	38790628	2,13004	2203	4300	6503	SO:0001583	missense	1769	9	121370	39				g.chr6:38790628G>A	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.2887G>A	chr6.hg19:g.38790628G>A	ENSP00000352312:p.Ala963Thr	0					SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T	p.A963T			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		25	3141	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	1	1	hg19	c.2887G>A		1	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741757	0.15642	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.12	-6.83	0.01693	5.12	-6.83	0.01693	.	1.350950	0.04674	N	0.411146	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10377	T	0.69	.	12.1701	0.54152	0.3127:0.1087:0.5787:0.0	.	963	Q96JB1	DYH8_HUMAN	T	1168;1168;963;963	ENSP00000333363:A1168T;ENSP00000352312:A963T;ENSP00000402294:A963T	ENSP00000333363:A1168T	A	+	1	0	0	DNAH8	38898606	38898606	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-1.057000	0.03486	-1.304000	0.02329	-0.471000	0.05019	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-7.412325	1	0.170000	NM_001206927			15	15		158	155	0		1			0	0	26	0		9.998806e-01	0	0	0	0	0	0	15	158
DNAH8	1769	broad.mit.edu	37	6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1954	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)			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						CCTGGATATGCTGGGCGCCAG	0.318																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				260						c.(5860-5862)gCt>gTt		dynein, axonemal, heavy chain 8							60.0	61.0	61.0					6																	38834380		2203	4300	6503	SO:0001583	missense	1769	0	0					g.chr6:38834380C>T	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.5861C>T	chr6.hg19:g.38834380C>T	ENSP00000352312:p.Ala1954Val	0					DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V	p.A1954V			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		44	6115	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	1	1	hg19	c.5861C>T		1	.	.	.	.	.	.	.	.	.	.	C	35	5.518254	0.96416	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14022	2.54;2.54;2.54	5.87	5.87	0.94306	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07366	-1.0776	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1954	Q96JB1	DYH8_HUMAN	V	2159;2159;1954;1954	ENSP00000333363:A2159V;ENSP00000352312:A1954V;ENSP00000402294:A1954V	ENSP00000333363:A2159V	A	+	2	0	0	DNAH8	38942358	38942358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_001206927			30	30		122	121	0		1			0	0	39	0		1	0	0	0	0	0	0	30	122
DNAH8	1769	broad.mit.edu	37	6	38840488	38840488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000449981.2_Silent_p.D2389D|DNAH8_ENST00000441566.1_Silent_p.D2136D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2172	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)			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						GCAGACTGGACACTGCTACCA	0.408																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				260						c.(6514-6516)gaC>gaT		dynein, axonemal, heavy chain 8							96.0	93.0	94.0					6																	38840488		2203	4300	6503	SO:0001819	synonymous_variant	1769	0	0					g.chr6:38840488C>T	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.6516C>T	chr6.hg19:g.38840488C>T		0					DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D	p.D2172D			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		48	6770	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	1	1	hg19	c.6516C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001206927			59	57		289	282	1		1	0		0	0	76	0		1	0	0	0	0	1	0	59	289
DNAH8	1769	broad.mit.edu	37	6	38890961	38890961	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3380					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428																																						ENST00000359357.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				260						c.(10138-10140)aGa>aTa		dynein, axonemal, heavy chain 8							47.0	49.0	48.0					6																	38890961		2203	4300	6503	SO:0001630	splice_region_variant	1769	0	0					g.chr6:38890961G>T	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.10139+1G>T	chr6.hg19:g.38890961G>T		0					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|RP1-207H1.3_ENST00000418399.1_RNA	p.R3380I			0	0	0	1.973144	Q96JB1	DYH8_HUMAN		70	10393	+			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	1	0	hg19	c.10139G>T		1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991528	0.74703	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	5.33	0.75918	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.204756	0.45361	D	0.000374	D	0.87346	0.6154	H	0.94886	3.595	0.58432	D	0.999999	D	0.55172	0.97	P	0.59825	0.864	D	0.89862	0.4017	10	0.59425	D	0.04	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	3380	Q96JB1	DYH8_HUMAN	I	3585;3585;3380;3344	ENSP00000333363:R3585I;ENSP00000352312:R3380I;ENSP00000402294:R3344I	ENSP00000333363:R3585I	R	+	2	0	0	DNAH8	38998939	38998939	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	6.015000	0.70791	2.644000	0.89710	0.655000	0.94253	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_001206927	Missense_Mutation		42	42		209	206	1		1			0	0	45	0		1	0	0	0	0	0	0	42	209
GLP1R	2740	broad.mit.edu	37	6	39034062	39034062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	164					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)			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)	TCGCCTCTGCGATCCTCCTCG	0.587																																						ENST00000373256.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				31						c.(490-492)gcG>gcA		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)						148.0	112.0	124.0					6																	39034062		2203	4300	6503	SO:0001819	synonymous_variant	2740	2	121412	29				g.chr6:39034062G>A		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.492G>A	chr6.hg19:g.39034062G>A		0						p.A164A	NM_002062.3	NP_002053.3	0	0	0	1.973144	P43220	GLP1R_HUMAN		5	535	+			Q2M229|Q99669	Silent	SNP	ENST00000373256.4	1	1	hg19	c.492G>A	CCDS4839.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000				27	27		141	139	1		1	0		0	0	41	0		1	0	0	0	0	1	0	27	141
KIF6	221458	broad.mit.edu	37	6	39328261	39328261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000229913.5_Silent_p.I115I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	664					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)			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						GCAAGTGCTCGATCTCCACCT	0.542																																						ENST00000287152.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1990-1992)atC>atT		kinesin family member 6							111.0	98.0	102.0					6																	39328261		2203	4300	6503	SO:0001819	synonymous_variant	221458	0	0					g.chr6:39328261G>A	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.1992C>T	chr6.hg19:g.39328261G>A		0					KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000373213.4_Silent_p.I503I	p.I664I	NM_145027.4	NP_659464.3	0	0	0	1.973144	Q6ZMV9	KIF6_HUMAN		18	2086	-			Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	1	1	hg19	c.1992C>T	CCDS4844.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319264	0.23994	.	.	ENSG00000164627	ENST00000458470	.	.	.	4.47	-2.17	0.07059	4.47	-2.17	0.07059	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	4.6477	0.12580	0.3828:0.0:0.3915:0.2257	.	.	.	.	L	556	.	.	S	-	2	0	0	KIF6	39436239	39436239	0.245000	0.23899	0.965000	0.40720	0.997000	0.91878	-0.733000	0.04898	-0.816000	0.04340	0.462000	0.41574	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	0	0	1		19	2	2	1		1	1	68		68	67	1	2.060000	-4.867003	1	0.170000	NM_145027			95	93		304	302	1		1	0		1	0	68	0		1	0	0	0	0	1	0	95	304
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	rs139112928	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					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.R613W(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						TGTATATGCCGCTGGGTGATT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		17500	0.0		0.001	False		,,,				2504	0.001					ENST00000287152.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										2	Substitution - Missense(2)	p.R613W(2)	lung(2)	52						c.(1837-1839)Cgg>Tgg		kinesin family member 6		G	TRP/ARG	0,4406		0,0,2203	121.0	114.0	116.0		1837	0.4	1.0	6	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIF6	NM_145027.4	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	613/815	39353422	3,13003	2203	4300	6503	SO:0001583	missense	221458	33	121412	46				g.chr6:39353422G>A	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.1837C>T	chr6.hg19:g.39353422G>A	ENSP00000287152:p.Arg613Trp	0					KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W	p.R613W	NM_145027.4	NP_659464.3	0	0	0	1.973144	Q6ZMV9	KIF6_HUMAN		16	1931	-			Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	1	1	hg19	c.1837C>T	CCDS4844.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	2	KIF6	39461400	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-3.038148	1	0.170000	NM_145027			50	48		260	246	1		1	0		0	0	63	0		1	0	0	0	0	1	0	50	260
DAAM2	23500	broad.mit.edu	37	6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000398904.2	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	617	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					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)					ATTTTAGGAGCGTGTCCCTGG	0.493																																						ENST00000398904.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998429	0.990000	1.000000																										0				49						c.(1849-1851)Cgt>Tgt		dishevelled associated activator of morphogenesis 2							87.0	85.0	86.0					6																	39851741		1960	4155	6115	SO:0001583	missense	23500	1	120874	26				g.chr6:39851741C>T	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.1849C>T	chr6.hg19:g.39851741C>T	ENSP00000381876:p.Arg617Cys	0					RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C	p.R617C			0	0	0	1.973144	Q86T65	DAAM2_HUMAN		15	2031	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	1	1	hg19	c.1849C>T	CCDS56426.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699144	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.93	4.06	0.47325	5.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.372678	0.29752	N	0.011281	T	0.18593	0.0446	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.94;0.953	T	0.01725	-1.1287	10	0.87932	D	0	.	7.0974	0.25317	0.2507:0.6654:0.0:0.084	.	617;617	G5EA45;Q86T65	.;DAAM2_HUMAN	C	617	ENSP00000274867:R617C;ENSP00000381876:R617C;ENSP00000437808:R617C	ENSP00000274867:R617C	R	+	1	0	0	DAAM2	39959719	39959719	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.359000	0.34113	1.513000	0.48852	0.561000	0.74099	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-10.881830	1	0.170000				15	14		77	76	1		1	0		0	0	23	0		9.999048e-01	9.091565e-01	0	0	0	24	0	15	77
DAAM2	23500	broad.mit.edu	37	6	39855321	39855321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|DAAM2_ENST00000538976.1_Silent_p.S671S|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					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)					AAGAGCTGTCGGTCATTGATG	0.532																																						ENST00000398904.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999907	0.990000	1.000000																										0				49						c.(2011-2013)tcG>tcA		dishevelled associated activator of morphogenesis 2							70.0	75.0	73.0					6																	39855321		1950	4145	6095	SO:0001819	synonymous_variant	23500	0	0					g.chr6:39855321G>A	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.2013G>A	chr6.hg19:g.39855321G>A		0					RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000538976.1_Silent_p.S671S	p.S671S			0	0	0	1.973144	Q86T65	DAAM2_HUMAN		16	2195	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	1	1	hg19	c.2013G>A	CCDS56426.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.315936	1	0.170000				21	21		90	88	1		1	0		0	0	32	0		9.999986e-01	9.666567e-01	0	0	0	27	0	21	90
DAAM2	23500	broad.mit.edu	37	6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000398904.2	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	833	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					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)					GACACCAAGTCCAGCATCGAC	0.592																																						ENST00000398904.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2497-2499)tCc>tAc		dishevelled associated activator of morphogenesis 2							41.0	46.0	44.0					6																	39864744		2061	4195	6256	SO:0001583	missense	23500	0	0					g.chr6:39864744C>A	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.2498C>A	chr6.hg19:g.39864744C>A	ENSP00000381876:p.Ser833Tyr	0					RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y	p.S833Y			0	0	0	1.973144	Q86T65	DAAM2_HUMAN		20	2680	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	1	1	hg19	c.2498C>A	CCDS56426.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692462	0.88735	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.69040	-0.37;-0.37;-0.37	4.66	4.66	0.58398	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.141332	0.49305	D	0.000143	D	0.84857	0.5565	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89137	0.3514	10	0.87932	D	0	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	833;833	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	833	ENSP00000274867:S833Y;ENSP00000381876:S833Y;ENSP00000437808:S833Y	ENSP00000274867:S833Y	S	+	2	0	0	DAAM2	39972722	39972722	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.645000	0.83430	2.433000	0.82419	0.561000	0.74099	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				40	40		172	168	1		1	0		0	0	38	0		1	9.864935e-01	0	0	0	32	0	40	172
DAAM2	23500	broad.mit.edu	37	6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000398904.2	+	24	3004	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V|DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	941	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					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)					TTCGCCAAGGCCTTGATGCAC	0.562																																						ENST00000398904.2	1.000000	0.700000	1	8.000000e-01	0.900000	0.899415	0.900000	1.000000																										0				49						c.(2821-2823)gCc>gTc		dishevelled associated activator of morphogenesis 2							164.0	167.0	166.0					6																	39869088		2073	4210	6283	SO:0001583	missense	23500	0	0					g.chr6:39869088C>T	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.2822C>T	chr6.hg19:g.39869088C>T	ENSP00000381876:p.Ala941Val	0					DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V	p.A941V			0	0	0	1.973144	Q86T65	DAAM2_HUMAN		24	3004	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	1	1	hg19	c.2822C>T	CCDS56426.1	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815744	0.50527	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.16743	2.32;2.32;2.32	5.44	4.56	0.56223	5.44	4.56	0.56223	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.130091	0.50627	D	0.000110	T	0.05364	0.0142	N	0.25286	0.73	0.80722	D	1	P;P	0.40731	0.681;0.728	B;B	0.37692	0.166;0.256	T	0.33163	-0.9879	10	0.18710	T	0.47	.	15.9472	0.79803	0.0:0.8646:0.1354:0.0	.	940;941	G5EA45;Q86T65	.;DAAM2_HUMAN	V	941;941;940	ENSP00000274867:A941V;ENSP00000381876:A941V;ENSP00000437808:A940V	ENSP00000274867:A941V	A	+	2	0	0	DAAM2	39977066	39977066	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.017000	0.70805	1.268000	0.44264	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1		2	2	2	0		0	0	220		220	219	1	2.060000	-14.649060	1	0.170000				67	65		792	778	0		1	0		0	0	220	0		1	7.692801e-01	0	0	0	35	0	67	792
MOCS1	4337	broad.mit.edu	37	6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000340692.5	-	9	1061	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000373186.4_Missense_Mutation_p.R353I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000340692.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1057-1059)aGa>aTa		molybdenum cofactor synthesis 1							114.0	102.0	106.0					6																	39877623		2203	4300	6503	SO:0001583	missense	4337	0	0					g.chr6:39877623C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1058G>T	chr6.hg19:g.39877623C>A	ENSP00000344794:p.Arg353Ile	0					MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000373186.4_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I	p.R353I			0	0	0	1.973144	Q9NZB8	MOCS1_HUMAN		9	1061	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	1	1	hg19	c.1058G>T		1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076926	0.20227	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	4.98	0.952	0.19584	4.98	0.952	0.19584	Molybdenum cofactor synthesis C-terminal (1);	0.618843	0.16706	N	0.202889	T	0.77558	0.4148	M	0.79011	2.435	0.25476	N	0.987787	B;B;P;B;B	0.34909	0.419;0.087;0.475;0.419;0.178	B;B;B;B;B	0.36335	0.142;0.098;0.222;0.142;0.142	T	0.68891	-0.5289	9	.	.	.	1.1866	4.5072	0.11894	0.0:0.3477:0.2942:0.3581	.	353;353;353;353;353	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	I	353;353;324;353;266;353;353;324	ENSP00000362282:R353I;ENSP00000309843:R353I;ENSP00000362270:R324I;ENSP00000362284:R353I;ENSP00000362291:R266I;ENSP00000344794:R353I;ENSP00000416478:R353I;ENSP00000410809:R324I	.	R	-	2	0	0	MOCS1	39985601	39985601	0.051000	0.20477	0.016000	0.15963	0.442000	0.32017	0.454000	0.21827	-0.129000	0.11620	0.557000	0.71058	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	1	0	1		2	2	2	0		0	0	141		141	139	1	2.060000	-20.000000	1	0.170000	NM_005943			132	129		522	511	1		1	0		0	0	141	0		1	9.980394e-01	0	1	0	38	0	132	522
LRFN2	57497	broad.mit.edu	37	6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	239						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607																																						ENST00000338305.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(715-717)ttT>ttA		leucine rich repeat and fibronectin type III domain containing 2							32.0	37.0	35.0					6																	40400136		2203	4300	6503	SO:0001583	missense	57497	0	0					g.chr6:40400136A>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.717T>A	chr6.hg19:g.40400136A>T	ENSP00000345985:p.Phe239Leu	0						p.F239L	NM_020737.1	NP_065788.1	0	0	0	1.973144	Q9ULH4	LRFN2_HUMAN		2	1259	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	1	1	hg19	c.717T>A	CCDS34443.1	1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296729	0.40594	.	.	ENSG00000156564	ENST00000338305	T	0.01240	5.12	5.42	-6.7	0.01766	5.42	-6.7	0.01766	.	0.095815	0.64402	D	0.000001	T	0.00328	0.0010	N	0.10707	0.03	0.49915	D	0.999831	B	0.24317	0.101	B	0.27715	0.082	T	0.38887	-0.9640	10	0.14656	T	0.56	.	14.7045	0.69179	0.4575:0.0:0.5424:0.0	.	239	Q9ULH4	LRFN2_HUMAN	L	239	ENSP00000345985:F239L	ENSP00000345985:F239L	F	-	3	2	2	LRFN2	40508114	40508114	0.069000	0.21087	0.885000	0.34714	0.784000	0.44337	-0.274000	0.08537	-1.326000	0.02266	-0.371000	0.07208	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	XM_166372			58	55		234	231	1		1	0		0	0	55	0		1	0	0	0	0	1	0	58	234
UNC5CL	222643	broad.mit.edu	37	6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000373164.1	-	8	1566	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCCCGCGCTCGGGGCCTG	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373164.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1504-1506)gaG>gaT		unc-5 homolog C (C. elegans)-like							12.0	13.0	13.0					6																	40996163		2176	4255	6431	SO:0001583	missense	222643	0	0					g.chr6:40996163C>A	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.1506G>T	chr6.hg19:g.40996163C>A	ENSP00000362258:p.Glu502Asp	0		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR	p.E502D			0	0	0	1.973144	Q8IV45	UN5CL_HUMAN		8	1566	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	1	1	hg19	c.1506G>T	CCDS4847.1	1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.582907	0.13749	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14516	2.5;2.5	4.32	-1.68	0.08212	4.32	-1.68	0.08212	.	4.313200	0.00744	N	0.001035	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46456	-0.9190	10	0.13853	T	0.58	0.6004	16.5715	0.84613	0.0:0.7392:0.2608:0.0	.	502	Q8IV45	UN5CL_HUMAN	D	502	ENSP00000244565:E502D;ENSP00000362258:E502D	ENSP00000244565:E502D	E	-	3	2	2	UNC5CL	41104141	41104141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-0.351000	0.08249	-0.344000	0.07964	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_173561			29	27		105	104	0		1	1		0	0	19	0		1	9.992924e-01	0	17	0	28	0	29	105
UNC5CL	222643	broad.mit.edu	37	6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000373164.1	-	6	1184	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	375	Interaction with RELA and NFKB1.				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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGTCTCCAAGCCCTGAGT	0.552																																						ENST00000373164.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				13						c.(1123-1125)tTg>tCg		unc-5 homolog C (C. elegans)-like							67.0	66.0	67.0					6																	40998490		2203	4300	6503	SO:0001583	missense	222643	0	0					g.chr6:40998490A>G	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.1124T>C	chr6.hg19:g.40998490A>G	ENSP00000362258:p.Leu375Ser	0					UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR	p.L375S			0	0	0	1.973144	Q8IV45	UN5CL_HUMAN		6	1184	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	1	1	hg19	c.1124T>C	CCDS4847.1	1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192500	0.21954	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16897	2.31;2.31	4.79	3.61	0.41365	4.79	3.61	0.41365	.	0.393509	0.18792	N	0.131024	T	0.03263	0.0095	N	0.24115	0.695	0.32059	N	0.595991	B	0.30193	0.272	B	0.23275	0.045	T	0.42258	-0.9462	10	0.24483	T	0.36	-7.3284	8.4273	0.32735	0.8019:0.1981:0.0:0.0	.	375	Q8IV45	UN5CL_HUMAN	S	375	ENSP00000244565:L375S;ENSP00000362258:L375S	ENSP00000244565:L375S	L	-	2	0	0	UNC5CL	41106468	41106468	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.410000	0.59774	0.838000	0.34948	-0.316000	0.08728	TTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_173561			38	37		181	179	1		1	1		0	0	37	0		1	9.978808e-01	0	10	0	37	0	38	181
UNC5CL	222643	broad.mit.edu	37	6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000373164.1	-	1	217	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	53					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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGGACACTGGTTCCTCT	0.587																																						ENST00000373164.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(157-159)Gtg>Atg		unc-5 homolog C (C. elegans)-like							116.0	105.0	109.0					6																	41002657		2203	4300	6503	SO:0001583	missense	222643	0	0					g.chr6:41002657C>T	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.157G>A	chr6.hg19:g.41002657C>T	ENSP00000362258:p.Val53Met	0					UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M|UNC5CL_ENST00000470102.1_5'Flank	p.V53M			0	0	0	1.973144	Q8IV45	UN5CL_HUMAN		1	217	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	1	1	hg19	c.157G>A	CCDS4847.1	1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199508	0.22121	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.20598	2.06;2.06	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.836023	0.10201	N	0.703402	T	0.07279	0.0184	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.31751	0.135	T	0.12656	-1.0539	10	0.54805	T	0.06	-3.386	12.5412	0.56172	0.0:1.0:0.0:0.0	.	53	Q8IV45	UN5CL_HUMAN	M	53	ENSP00000244565:V53M;ENSP00000362258:V53M	ENSP00000244565:V53M	V	-	1	0	0	UNC5CL	41110635	41110635	0.009000	0.17119	0.849000	0.33467	0.012000	0.07955	2.263000	0.43293	2.342000	0.79632	0.563000	0.77884	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_173561			98	97		437	431	1		1	1		0	0	96	0		1	9.984207e-01	0	12	0	33	0	98	437
TREML2	79865	broad.mit.edu	37	6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	36	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502																																						ENST00000483722.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(106-108)aCt>aAt		triggering receptor expressed on myeloid cells-like 2							136.0	139.0	138.0					6																	41166116		2203	4300	6503	SO:0001583	missense	79865	0	0					g.chr6:41166116G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.107C>A	chr6.hg19:g.41166116G>T	ENSP00000418767:p.Thr36Asn	0						p.T36N	NM_024807.2	NP_079083.2	0	0	0	1.973144	Q5T2D2	TRML2_HUMAN		2	292	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	1	1	hg19	c.107C>A	CCDS4853.2	1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307291	0.40795	.	.	ENSG00000112195	ENST00000483722	T	0.64085	-0.08	4.75	4.75	0.60458	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.68869	0.3048	L	0.60455	1.87	0.37215	D	0.904973	D	0.76494	0.999	D	0.79108	0.992	T	0.73030	-0.4111	10	0.62326	D	0.03	-15.7229	13.6225	0.62144	0.0:0.0:1.0:0.0	.	36	Q5T2D2	TRML2_HUMAN	N	36	ENSP00000418767:T36N	ENSP00000418767:T36N	T	-	2	0	0	TREML2	41274094	41274094	0.999000	0.42202	0.984000	0.44739	0.036000	0.12997	4.280000	0.58959	2.344000	0.79699	0.563000	0.77884	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	1	0	0		2	2	2	0		0	0	172		172	171	1	2.060000	-20.000000	1	0.170000	NM_024807			191	188		836	817	1		1	0		0	0	172	0		1	9.173067e-02	0	1	0	2	0	191	836
TREML4	285852	broad.mit.edu	37	6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	28	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572																																						ENST00000341495.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(82-84)Ctt>Ttt		triggering receptor expressed on myeloid cells-like 4							84.0	84.0	84.0					6																	41196470		2203	4300	6503	SO:0001583	missense	285852	0	0					g.chr6:41196470C>T	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.82C>T	chr6.hg19:g.41196470C>T	ENSP00000342570:p.Leu28Phe	0					TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	p.L28F	NM_198153.2	NP_937796.1	0	0	0	1.973144	Q6UXN2	TRML4_HUMAN		2	186	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	1	1	hg19	c.82C>T	CCDS34446.1	1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201274	0.38905	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68903	-0.36;-0.36	3.78	1.92	0.25849	3.78	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64316	0.2587	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	9	0.72032	D	0.01	-8.9772	5.2004	0.15260	0.0:0.6706:0.2107:0.1187	.	28	Q6UXN2	TRML4_HUMAN	F	28	ENSP00000342570:L28F;ENSP00000418078:L28F	ENSP00000342570:L28F	L	+	1	0	0	TREML4	41304448	41304448	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.330000	0.19715	0.354000	0.24105	0.591000	0.81541	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000				89	88		389	381	1		1	0		0	0	120	0		1	0	0	0	0	1	0	89	389
MDFI	4188	broad.mit.edu	37	6	41621208	41621208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41621208C>T	ENST00000373050.4	+	4	640	c.453C>T	c.(451-453)tgC>tgT	p.C151C				Q99750	MDFI_HUMAN	MyoD family inhibitor	212					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GTGCCGACTGCGACCTGCCCT	0.652																																						ENST00000373050.4	0.300000	0.090000	2.500000e-01	1.300000e-01	0.180000	0.194923	0.180000	0.180000																										0				8						c.(451-453)tgC>tgT		MyoD family inhibitor							113.0	97.0	102.0					6																	41621208		2203	4300	6503	SO:0001819	synonymous_variant	4188	0	0					g.chr6:41621208C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.453C>T	chr6.hg19:g.41621208C>T		0						p.C151C			0	0	0	1.973144	Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)	4	640	+	Ovarian(28;0.0327)|Colorectal(47;0.121)			Silent	SNP	ENST00000373050.4	0	1	hg19	c.453C>T		0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	0	0	0		2	2	2	0		0	0	142		142	142	1	2.060000	-2.419217	0	0.170000	NM_005586			12	11		756	749	0		1	1		0	0	142	0		9.990587e-01	9.216319e-01	0	17	0	262	0	12	756
PGC	5225	broad.mit.edu	37	6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	108					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612																																						ENST00000373025.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	16						c.(322-324)Gcc>Acc		progastricsin (pepsinogen C)							60.0	62.0	61.0					6																	41712141		2203	4300	6503	SO:0001583	missense	5225	1	121412	32				g.chr6:41712141C>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.322G>A	chr6.hg19:g.41712141C>T	ENSP00000362116:p.Ala108Thr	0					PGC_ENST00000425343.2_Missense_Mutation_p.A108T	p.A108T	NM_002630.3	NP_002621.1	0	0	0	1.973144	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)	3	384	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	1	1	hg19	c.322G>A	CCDS4859.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821681	0.50633	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.60672	0.17;0.17	4.65	3.79	0.43588	4.65	3.79	0.43588	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063203	0.64402	N	0.000010	T	0.72391	0.3454	M	0.88377	2.95	0.44175	D	0.996986	D	0.89917	1.0	D	0.79784	0.993	T	0.79014	-0.1976	10	0.87932	D	0	.	12.4447	0.55645	0.0:0.9174:0.0:0.0826	.	108	P20142	PEPC_HUMAN	T	108	ENSP00000362116:A108T;ENSP00000405094:A108T	ENSP00000362116:A108T	A	-	1	0	0	PGC	41820119	41820119	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.216000	0.58540	1.203000	0.43233	-0.225000	0.12378	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000				83	81		446	442	1		1	1		0	0	113	0		1	9.817280e-01	0	11	0	25	0	83	446
FRS3	10817	broad.mit.edu	37	6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	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)			CTTCTGCAGTGGGGTCTCGTC	0.667																																						ENST00000373018.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1105-1107)cCa>cTa		fibroblast growth factor receptor substrate 3							45.0	46.0	46.0					6																	41738730		2202	4299	6501	SO:0001583	missense	10817	0	0					g.chr6:41738730G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1106C>T	chr6.hg19:g.41738730G>A	ENSP00000362109:p.Pro369Leu	0					FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	p.P369L	NM_006653.3	NP_006644.1	0	0	0	1.973144	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	7	1357	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	1	1	hg19	c.1106C>T	CCDS4860.1	1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099895	0.56183	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.099722	0.64402	D	0.000001	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.18555	-1.0333	10	0.66056	D	0.02	-21.6613	19.5656	0.95391	0.0:0.0:1.0:0.0	.	369	O43559	FRS3_HUMAN	L	369	ENSP00000362109:P369L;ENSP00000259748:P369L	ENSP00000259748:P369L	P	-	2	0	0	FRS3	41846708	41846708	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	3.630000	0.54273	2.728000	0.93425	0.655000	0.94253	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-2.901534	1	0.170000	NM_006653			97	95		467	460	0		1	1		0	0	89	0		1	4.149096e-01	0	2	0	6	0	97	467
PRICKLE4	29964	broad.mit.edu	37	6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000394260.1	+	4	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	189	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			GGACGTTATGCCCTGCCTGGG	0.672																																						ENST00000394260.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(565-567)gCc>gTc		prickle homolog 4 (Drosophila)							32.0	34.0	33.0					6																	41753969		2202	4300	6502	SO:0001583	missense	29964	0	0					g.chr6:41753969C>T	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.566C>T	chr6.hg19:g.41753969C>T	ENSP00000377803:p.Ala189Val	0					TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|TOMM6_ENST00000398884.3_5'Flank	p.A189V			0	0	0	1.973144	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	4	566	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	1	1	hg19	c.566C>T		1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825632	0.32237	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.138533	0.33477	N	0.004876	T	0.35624	0.0938	N	0.00109	-2.105	0.37209	D	0.904731	B	0.19200	0.034	B	0.26416	0.069	T	0.50742	-0.8792	10	0.11485	T	0.65	-19.1463	7.1315	0.25504	0.0:0.8176:0.0:0.1824	.	229	Q2TBC4-3	.	V	229;229;229;189;189	ENSP00000404911:A229V;ENSP00000352128:A229V;ENSP00000377806:A229V;ENSP00000377802:A189V;ENSP00000377803:A189V	ENSP00000335185:A229V	A	+	2	0	0	PRICKLE4	41861947	41861947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	2.504000	0.84457	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	0	0	1		19	3	2	1		1	1	56		56	55	1	2.060000	-2.963585	1	0.170000	NM_013397			56	56		273	269	1		1	1		1	0	56	0		9.999986e-01	6.134149e-01	0	7	0	11	0	56	273
USP49	25862	broad.mit.edu	37	6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	180					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726																																						ENST00000394253.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				23						c.(538-540)Cgc>Tgc		ubiquitin specific peptidase 49							8.0	10.0	9.0					6																	41774184		2110	4116	6226	SO:0001583	missense	25862	0	0					g.chr6:41774184G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.538C>T	chr6.hg19:g.41774184G>A	ENSP00000377797:p.Arg180Cys	0					USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C	p.R180C			0	0	0	1.973144	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	3	867	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	1	1	hg19	c.538C>T		1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330258	0.24167	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07567	3.67;3.18;3.67;3.44;3.44	4.29	2.28	0.28536	4.29	2.28	0.28536	.	0.238802	0.35615	N	0.003088	T	0.05502	0.0145	L	0.29908	0.895	0.43435	D	0.995605	D	0.57257	0.979	P	0.52710	0.707	T	0.29852	-0.9998	10	0.66056	D	0.02	-12.386	10.509	0.44851	0.0:0.0:0.4072:0.5928	.	180	Q70CQ1-2	.	C	180	ENSP00000377797:R180C;ENSP00000362101:R180C;ENSP00000362100:R180C;ENSP00000362097:R180C;ENSP00000297229:R180C	ENSP00000297229:R180C	R	-	1	0	0	USP49	41882162	41882162	0.988000	0.35896	0.999000	0.59377	0.016000	0.09150	2.116000	0.41930	0.995000	0.38917	-0.169000	0.13324	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_018561			24	23		107	103	0		1	0		0	0	11	0		9.999998e-01	0	0	0	0	1	0	24	107
USP49	25862	broad.mit.edu	37	6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701																																						ENST00000394253.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999712	0.990000	1.000000																										0				23						c.(445-447)cGc>cAc		ubiquitin specific peptidase 49							11.0	13.0	12.0					6																	41774276		2185	4272	6457	SO:0001583	missense	25862	0	0					g.chr6:41774276C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.446G>A	chr6.hg19:g.41774276C>T	ENSP00000377797:p.Arg149His	0					USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H	p.R149H			0	0	0	1.973144	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	3	775	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	0	1	hg19	c.446G>A		1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292763	0.23564	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06687	3.76;3.27;3.76;3.54;3.54	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.404141	0.27896	N	0.017420	T	0.01523	0.0049	N	0.08118	0	0.33826	D	0.629658	B	0.22983	0.078	B	0.23275	0.045	T	0.47598	-0.9105	10	0.14656	T	0.56	-16.6087	11.6726	0.51411	0.0:0.671:0.329:0.0	.	149	Q70CQ1-2	.	H	149	ENSP00000377797:R149H;ENSP00000362101:R149H;ENSP00000362100:R149H;ENSP00000362097:R149H;ENSP00000297229:R149H	ENSP00000297229:R149H	R	-	2	0	0	USP49	41882254	41882254	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.582000	0.46085	2.288000	0.76882	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	1	0	0		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_018561			25	25		139	136	0		1	0		0	0	22	0		9.999999e-01	0	0	0	0	1	0	25	139
MED20	9477	broad.mit.edu	37	6	41874828	41874828	+	Silent	SNP	C	C	T	rs200052512		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	207				Missing (in Ref. 1; AAD16169). {ECO:0000305}.	gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18113	0.001		0.0	False		,,,				2504	0.0					ENST00000265350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(619-621)ccG>ccA		mediator complex subunit 20							67.0	59.0	61.0					6																	41874828		2203	4300	6503	SO:0001819	synonymous_variant	9477	2	121412	33				g.chr6:41874828C>T	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.621G>A	chr6.hg19:g.41874828C>T		0					MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	p.P207P	NM_004275.3	NP_004266.2	0	0	0	1.973144	Q9H944	MED20_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	4	701	-	Colorectal(47;0.121)		B4DE08|O95821|Q5T8J4|Q9Y429	Silent	SNP	ENST00000265350.4	1	1	hg19	c.621G>A	CCDS4862.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	1	0	1		2	2	2	0		0	0	66		66	63	1	2.060000	-2.624180	1	0.170000	NM_004275			54	54		274	267	1		1	1		0	0	66	0		1	9.915845e-01	0	16	0	24	0	54	274
BYSL	705	broad.mit.edu	37	6	41895197	41895197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	118					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562																																						ENST00000230340.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(352-354)ggC>ggT		bystin-like							140.0	125.0	130.0					6																	41895197		2203	4300	6503	SO:0001819	synonymous_variant	705	0	0					g.chr6:41895197C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.354C>T	chr6.hg19:g.41895197C>T		0						p.G118G	NM_004053.3	NP_004044.3	0	0	0	1.973144	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	2	729	+	Colorectal(47;0.121)		Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	1	1	hg19	c.354C>T	CCDS34450.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-3.331722	1	0.170000				73	71		372	363	1		1	1		0	0	112	0		1	9.999710e-01	0	29	0	49	0	73	372
CCND3	896	broad.mit.edu	37	6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000372991.4	-	2	445	c.247A>C	c.(247-249)Aac>Cac	p.N83H	CCND3_ENST00000511642.1_Missense_Mutation_p.N2H|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.N2H	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	83	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637			T	IGH@	MM																																	ENST00000372991.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6p21	6p21	896	T	cyclin D3				L	L	IGH@		MM		0				20						c.(247-249)Aac>Cac		cyclin D3							100.0	92.0	95.0					6																	41908275		2203	4300	6503	SO:0001583	missense	896	0	0					g.chr6:41908275T>G		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.247A>C	chr6.hg19:g.41908275T>G	ENSP00000362082:p.Asn83His	0					CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000511642.1_Missense_Mutation_p.N2H|CCND3_ENST00000372988.4_Missense_Mutation_p.N2H	p.N83H	NM_001760.3	NP_001751.1	0	0	0	1.973144	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	2	445	-	Colorectal(47;0.121)		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	1	1	hg19	c.247A>C	CCDS4863.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.6|22.6	4.308671|4.308671	0.81247|0.81247	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771;ENST00000514588|ENST00000512426	T;T;T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6|.	4.39|4.39	4.39|4.39	0.52855|0.52855	4.39|4.39	4.39|4.39	0.52855|0.52855	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|.	0.72526|.	0.3471|.	M|M	0.86573|0.86573	2.825|2.825	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.98;0.999;1.0|.	T|.	0.77338|.	-0.2625|.	10|.	0.87932|.	D|.	0|.	.|.	13.4041|13.4041	0.60900|0.60900	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2;83;33|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	H|C	83;2;33;2;2;2;2;33|17	ENSP00000362082:N83H;ENSP00000426212:N2H;ENSP00000362078:N33H;ENSP00000362079:N2H;ENSP00000425986:N2H;ENSP00000425830:N2H;ENSP00000425334:N2H;ENSP00000420991:N33H|.	ENSP00000362078:N33H|.	N|X	-|-	1|3	0|0	0|0	CCND3|CCND3	42016253|42016253	42016253|42016253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.010000|6.010000	0.70753|0.70753	1.839000|1.839000	0.53478|0.53478	0.459000|0.459000	0.35465|0.35465	AAC|TGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_001760			87	87		412	407	1		1	1		0	0	96	0		1	1	0	35	0	206	0	87	412
GUCA1A	2978	broad.mit.edu	37	6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	110	EF-hand 3. {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)			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)			CATTGACCGCGATGAGCTGCT	0.617																																						ENST00000394237.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(328-330)Gat>Aat		guanylate cyclase activator 1A (retina)							105.0	98.0	100.0					6																	42146144		2203	4300	6503	SO:0001583	missense	2978	1	121412	34				g.chr6:42146144G>A		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.328G>A	chr6.hg19:g.42146144G>A	ENSP00000377784:p.Asp110Asn	0					GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N	p.D110N			0	0	0	1.973144	P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	4	1304	+	Colorectal(47;0.196)		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	1	1	hg19	c.328G>A	CCDS4864.1	1	.	.	.	.	.	.	.	.	.	.	g	1.312	-0.601822	0.03744	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.57	3.7	0.42460	4.57	3.7	0.42460	EF-hand-like domain (1);	0.422650	0.26840	N	0.022228	T	0.74650	0.3744	L	0.56124	1.755	0.09310	N	1	P	0.38048	0.616	B	0.30716	0.119	T	0.65747	-0.6093	9	.	.	.	.	12.8576	0.57894	0.0:0.1656:0.8344:0.0	.	110	P43080	GUC1A_HUMAN	N	110;106;110;110;110	ENSP00000437476:D110N;ENSP00000053469:D110N;ENSP00000377784:D110N;ENSP00000362049:D110N	.	D	+	1	0	0	GUCA1A	42254122	42254122	0.045000	0.20229	0.225000	0.23894	0.005000	0.04900	1.711000	0.37930	1.055000	0.40461	-0.121000	0.15023	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000				130	126		576	568	1		1	0		0	0	137	0		1	2.327423e-01	0	0	0	5	0	130	576
TRERF1	55809	broad.mit.edu	37	6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000372922.4	-	18	4126	c.3564T>G	c.(3562-3564)gaT>gaG	p.D1188E	TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1188	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498																																						ENST00000372922.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3562-3564)gaT>gaG		transcriptional regulating factor 1							121.0	105.0	110.0					6																	42196122		2203	4300	6503	SO:0001583	missense	55809	0	0					g.chr6:42196122A>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3564T>G	chr6.hg19:g.42196122A>C	ENSP00000362013:p.Asp1188Glu	0					TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E	p.D1188E	NM_033502.2	NP_277037.1	0	0	0	1.973144	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	18	4126	-	Colorectal(47;0.196)		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	1	1	hg19	c.3564T>G	CCDS4867.1	1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557120	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.75;2.67;2.68	5.77	-0.61	0.11604	5.77	-0.61	0.11604	.	0.194080	0.35525	N	0.003150	T	0.02767	0.0083	L	0.27053	0.805	0.35433	D	0.794248	B;B;B;B;P	0.41131	0.005;0.003;0.003;0.005;0.739	B;B;B;B;B	0.40782	0.01;0.004;0.004;0.01;0.34	T	0.44345	-0.9334	10	0.44086	T	0.13	-9.2392	2.0843	0.03642	0.377:0.1345:0.3575:0.131	.	1105;1208;1188;944;956	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	1208;1117;1188;1117;1105	ENSP00000439689:D1208E;ENSP00000362008:D1117E;ENSP00000362013:D1188E;ENSP00000339438:D1117E;ENSP00000346285:D1105E	ENSP00000339438:D1117E	D	-	3	2	2	TRERF1	42304100	42304100	0.996000	0.38824	0.982000	0.44146	0.946000	0.59487	0.316000	0.19469	-0.086000	0.12550	0.455000	0.32223	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_033502			83	81		377	369	1		1	0		0	0	96	0		1	9.351018e-01	0	1	0	22	0	83	377
TRERF1	55809	broad.mit.edu	37	6	42196272	42196272	+	Silent	SNP	G	G	A	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000541110.1_Silent_p.P1158P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000372917.4_Silent_p.P1067P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602																																						ENST00000372922.4	0.430000	0.250000	3.900000e-01	2.900000e-01	0.330000	0.342725	0.330000	0.340000																										1	Substitution - coding silent(1)	p.P1138P(1)	lung(1)	45						c.(3412-3414)ccC>ccT		transcriptional regulating factor 1		G		0,4406		0,0,2203	141.0	165.0	157.0		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55809	41	121412	55				g.chr6:42196272G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	chr6.hg19:g.42196272G>A		0					TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000541110.1_Silent_p.P1158P|TRERF1_ENST00000372917.4_Silent_p.P1067P	p.P1138P	NM_033502.2	NP_277037.1	0	0	0	1.973144	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	18	3976	-	Colorectal(47;0.196)		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	1	1	hg19	c.3414C>T	CCDS4867.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	0	0	1		2	2	2	0		0	0	292		292	284	1	2.060000	-1.837068	0	0.170000	NM_033502			57	56		1903	1863	0		1	0		0	0	292	0		1	4.062215e-02	0	0	0	11	0	57	1903
TRERF1	55809	broad.mit.edu	37	6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000372922.4	-	8	2397	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657																																						ENST00000372922.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1834-1836)gCc>gTc		transcriptional regulating factor 1							60.0	65.0	64.0					6																	42231107		2203	4300	6503	SO:0001583	missense	55809	0	0					g.chr6:42231107G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1835C>T	chr6.hg19:g.42231107G>A	ENSP00000362013:p.Ala612Val	0					TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron	p.A612V	NM_033502.2	NP_277037.1	0	0	0	1.973144	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)	8	2397	-	Colorectal(47;0.196)		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	1	1	hg19	c.1835C>T	CCDS4867.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877247	0.51801	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10382	2.89;2.88	4.98	3.08	0.35506	4.98	3.08	0.35506	.	0.491767	0.18777	N	0.131437	T	0.01627	0.0052	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.15870	0.014;0.014	T	0.40232	-0.9574	10	0.24483	T	0.36	-11.838	6.3266	0.21246	0.0999:0.1854:0.7147:0.0	.	612;612	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	612	ENSP00000439689:A612V;ENSP00000362013:A612V	ENSP00000362013:A612V	A	-	2	0	0	TRERF1	42339085	42339085	0.886000	0.30341	0.970000	0.41538	0.991000	0.79684	1.357000	0.34090	1.096000	0.41439	-0.254000	0.11334	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	1	0	1		2	2	2	0		0	0	85		85	82	1	2.060000	-20.000000	1	0.170000	NM_033502			98	97		476	461	1		1	0		0	0	85	0		1	4.110037e-01	0	1	0	7	0	98	476
UBR2	23304	broad.mit.edu	37	6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372899.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372883.3_Missense_Mutation_p.P305S|UBR2_ENST00000372901.1_Missense_Mutation_p.P801S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363																																						ENST00000372899.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				64						c.(2401-2403)Cct>Tct		ubiquitin protein ligase E3 component n-recognin 2							101.0	98.0	99.0					6																	42613320		2203	4300	6503	SO:0001583	missense	23304	0	0					g.chr6:42613320C>T	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.2401C>T	chr6.hg19:g.42613320C>T	ENSP00000361990:p.Pro801Ser	0					UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	p.P801S	NM_015255.2	NP_056070.1	0	0	0	1.973144	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)	21	2659	+	Colorectal(47;0.196)		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	1	1	hg19	c.2401C>T	CCDS4870.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49432	0.78;0.78;0.78	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D;P	0.89917	1.0;0.739	D;P	0.91635	0.999;0.574	T	0.53878	-0.8376	10	0.31617	T	0.26	-24.2107	19.9659	0.97266	0.0:1.0:0.0:0.0	.	801;801	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	801;801;305	ENSP00000361990:P801S;ENSP00000361992:P801S;ENSP00000361974:P305S	ENSP00000361974:P305S	P	+	1	0	0	UBR2	42721298	42721298	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.802000	0.96397	0.650000	0.86243	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-19.996590	1	0.170000	NM_015255			50	50		315	309	1		1	1		0	0	65	0		1	9.997321e-01	0	21	0	58	0	50	315
UBR2	23304	broad.mit.edu	37	6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372899.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1609					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333																																						ENST00000372899.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999937	0.990000	1.000000																										0				64						c.(4825-4827)aGc>aAc		ubiquitin protein ligase E3 component n-recognin 2							67.0	68.0	67.0					6																	42652582		2202	4300	6502	SO:0001583	missense	23304	0	0					g.chr6:42652582G>A	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.4826G>A	chr6.hg19:g.42652582G>A	ENSP00000361990:p.Ser1609Asn	0					UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	p.S1609N	NM_015255.2	NP_056070.1	0	0	0	1.973144	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)	44	5084	+	Colorectal(47;0.196)		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	1	1	hg19	c.4826G>A	CCDS4870.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095316	0.36952	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.64	4.77	0.60923	5.64	4.77	0.60923	.	0.413235	0.31188	N	0.008095	T	0.29716	0.0742	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.084	B;B	0.35688	0.208;0.039	T	0.11397	-1.0589	10	0.20519	T	0.43	-11.6774	14.2927	0.66289	0.0714:0.0:0.9286:0.0	.	1609;1609	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1609	ENSP00000361990:S1609N;ENSP00000361992:S1609N	ENSP00000361990:S1609N	S	+	2	0	0	UBR2	42760560	42760560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	1.374000	0.46228	0.643000	0.83706	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_015255			32	31		176	175	1		1	1		0	0	33	0		1	1	0	39	0	120	0	32	176
UBR2	23304	broad.mit.edu	37	6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A	rs377215716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372899.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1640					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537																																						ENST00000372899.1	0.690000	0.380000	6.100000e-01	4.500000e-01	0.520000	0.537680	0.520000	0.520000																										0				64						c.(4918-4920)Ctg>Atg		ubiquitin protein ligase E3 component n-recognin 2							196.0	184.0	188.0					6																	42656018		2203	4300	6503	SO:0001583	missense	23304	0	0					g.chr6:42656018C>A	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.4918C>A	chr6.hg19:g.42656018C>A	ENSP00000361990:p.Leu1640Met	0					UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	p.L1640M	NM_015255.2	NP_056070.1	0	0	0	1.973144	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)	45	5176	+	Colorectal(47;0.196)		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	1	1	hg19	c.4918C>A	CCDS4870.1	0	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282912	0.80692	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.2185	14.5261	0.67890	0.0:0.93:0.0:0.07	.	228;1640;1640	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1640	ENSP00000361990:L1640M;ENSP00000361992:L1640M	ENSP00000361990:L1640M	L	+	1	2	2	UBR2	42763996	42763996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.885000	0.99019	0.655000	0.94253	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1		2	2	2	0		0	0	195		195	194	1	2.060000	-5.033292	1	0.170000	NM_015255			43	44		901	883	0		1	1		0	0	195	0		1	9.980047e-01	0	10	0	183	0	43	901
UBR2	23304	broad.mit.edu	37	6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372899.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1720					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438																																						ENST00000372899.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(5158-5160)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 2							104.0	101.0	102.0					6																	42658801		2203	4300	6503	SO:0001587	stop_gained	23304	0	0					g.chr6:42658801C>T	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.5158C>T	chr6.hg19:g.42658801C>T	ENSP00000361990:p.Arg1720*	0					UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	p.R1720*	NM_015255.2	NP_056070.1	0	0	0	1.973144	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)	47	5416	+	Colorectal(47;0.196)		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	0	1	hg19	c.5158C>T	CCDS4870.1	1	.	.	.	.	.	.	.	.	.	.	C	47	12.963440	0.99709	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2902	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000361990:R1720X	R	+	1	2	2	UBR2	42766779	42766779	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.985000	0.70556	2.879000	0.98667	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.223797	1	0.170000	NM_015255			70	70		391	388	1		1	1		0	0	68	0		1	1	0	45	0	111	0	70	391
PRPH2	5961	broad.mit.edu	37	6	42666183	42666183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	297					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592																																						ENST00000230381.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(889-891)gaG>gaA		peripherin 2 (retinal degeneration, slow)							73.0	72.0	72.0					6																	42666183		2203	4300	6503	SO:0001819	synonymous_variant	5961	0	0					g.chr6:42666183C>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.891G>A	chr6.hg19:g.42666183C>T		0						p.E297E	NM_000322.4	NP_000313.2	0	0	0	1.973144	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)	3	1130	-	Colorectal(47;0.196)		Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	1	1	hg19	c.891G>A	CCDS4871.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_000322			69	68		281	277	1		1	0		0	0	76	0		1	1.799254e-01	0	0	0	4	0	69	281
TBCC	6903	broad.mit.edu	37	6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000372876.1	-	1	792	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	257	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612																																						ENST00000372876.1	1.000000	0.770000	1	9.100000e-01	0.990000	0.970348	0.990000	1.000000																										0				14						c.(769-771)gCc>gTc		tubulin folding cofactor C							74.0	66.0	69.0					6																	42713042		2203	4300	6503	SO:0001583	missense	6903	0	0					g.chr6:42713042G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.770C>T	chr6.hg19:g.42713042G>A	ENSP00000361967:p.Ala257Val	0					TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	p.A257V	NM_003192.2	NP_003183	0	0	0	1.973144	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)	1	792	-	Colorectal(47;0.196)		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	1	1	hg19	c.770C>T	CCDS4872.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.173846	0.94807	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87256	-2.23;-2.23	5.14	5.14	0.70334	5.14	5.14	0.70334	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.121363	0.56097	D	0.000036	D	0.91513	0.7320	M	0.81942	2.565	0.58432	D	0.999994	P	0.52842	0.956	P	0.56916	0.809	D	0.91910	0.5539	10	0.59425	D	0.04	-10.8047	18.9802	0.92752	0.0:0.0:1.0:0.0	.	257	Q15814	TBCC_HUMAN	V	257	ENSP00000361967:A257V;ENSP00000244625:A257V	ENSP00000244625:A257V	A	-	2	0	0	TBCC	42821020	42821020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.550000	0.86006	0.467000	0.42956	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-3.318794	1	0.170000	NM_003192			33	33		318	315	1		1	1		0	0	88	0		1	9.996646e-01	0	13	0	106	0	33	318
PTCRA	171558	broad.mit.edu	37	6	42890844	42890844	+	Silent	SNP	C	C	T	rs373111406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	46					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGGTGGTCTGCCTGGTCC	0.597																																						ENST00000304672.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(136-138)gtC>gtT		pre T-cell antigen receptor alpha		C		1,4405		0,1,2202	147.0	126.0	133.0		138	-1.8	1.0	6		133	0,8600		0,0,4300	no	coding-synonymous	PTCRA	NM_138296.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		46/282	42890844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	171558	2	121412	38				g.chr6:42890844C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.138C>T	chr6.hg19:g.42890844C>T		0					PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	p.V46V	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	0	0	0	1.973144	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)	2	219	+	Colorectal(47;0.196)		Q5TFZ7	Silent	SNP	ENST00000304672.1	1	1	hg19	c.138C>T	CCDS4874.1	1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253776	0.22965	2.27E-4	0.0	ENSG00000171611	ENST00000418903	.	.	.	5.84	-1.76	0.08006	5.84	-1.76	0.08006	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	5	0.87932	D	0	-24.9793	0.5962	0.00736	0.2505:0.3307:0.1223:0.2965	.	.	.	.	F	57	.	ENSP00000407061:S57F	S	+	2	0	0	PTCRA	42998822	42998822	0.950000	0.32346	0.983000	0.44433	0.959000	0.62525	-0.313000	0.08103	-0.353000	0.08224	-0.145000	0.13849	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_138296			99	96		420	415	1		1			0	0	103	0		1	0	0	0	0	0	0	99	420
PEX6	5190	broad.mit.edu	37	6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	818					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)			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)			CACTCCTCCAGAATCTCCACT	0.547																																						ENST00000304611.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(2452-2454)tCt>tAt		peroxisomal biogenesis factor 6							174.0	191.0	185.0					6																	42933437		2203	4300	6503	SO:0001583	missense	5190	0	0					g.chr6:42933437G>T	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.2453C>A	chr6.hg19:g.42933437G>T	ENSP00000303511:p.Ser818Tyr	0					PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	p.S818Y	NM_000287.3	NP_000278.3	0	0	0	1.973144	Q13608	PEX6_HUMAN	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)	13	2522	-			Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	1	1	hg19	c.2453C>A	CCDS4877.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870906|4.870906	0.91587|0.91587	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000244546|ENST00000304611	D|D	0.95690|0.95272	-3.78|-3.66	5.76|5.76	5.76|5.76	0.90799|0.90799	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97498|0.97498	0.9181|0.9181	M|M	0.85859|0.85859	2.78|2.78	0.37998|0.37998	D|D	0.934132|0.934132	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98231|0.98231	1.0483|1.0483	7|10	0.44086|0.87932	T|D	0.13|0	-15.747|-15.747	19.5876|19.5876	0.95496|0.95496	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818	.|Q13608	.|PEX6_HUMAN	M|Y	736|818	ENSP00000244546:L736M|ENSP00000303511:S818Y	ENSP00000244546:L736M|ENSP00000303511:S818Y	L|S	-|-	1|2	2|0	2|0	PEX6|PEX6	43041415|43041415	43041415|43041415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.842000|9.842000	0.99487|0.99487	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTG|TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	1	0	1		2	2	2	0		0	0	371		371	363	1	2.060000	-20.000000	1	0.170000	NM_000287			273	263		1367	1302	1		1	0		0	0	371	0		1	5.689597e-01	0	0	0	11	0	273	1367
PPP2R5D	5528	broad.mit.edu	37	6	42974254	42974254	+	Silent	SNP	G	G	A	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000394110.3_Silent_p.P53P|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	53			P -> S (found in a patient with delayed psychomotor development, no speech and cataracts). {ECO:0000269|PubMed:23033978}.		carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			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)			ctcagccACCGTCATCCAACA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11068	0.0		0.0	False		,,,				2504	0.0				Melanoma(63;587 1613 29742 31770)	ENST00000485511.1	0.800000	0.410000	7.000000e-01	4.900000e-01	0.590000	0.604052	0.590000	0.580000																										0				25						c.(157-159)ccG>ccA		protein phosphatase 2, regulatory subunit B', delta		G	,,	2,4404	4.2+/-10.8	0,2,2201	48.0	57.0	54.0		159,159,	-10.7	0.0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	PPP2R5D	NM_006245.2,NM_180976.1,NM_180977.1	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	53/603,53/571,	42974254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5528	6	121408	38				g.chr6:42974254G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.159G>A	chr6.hg19:g.42974254G>A		0					PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000394110.3_Silent_p.P53P	p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	0	0	0	1.973144	Q14738	2A5D_HUMAN	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)	3	338	+			A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	1	1	hg19	c.159G>A	CCDS4878.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	1	0	0		2	2	2	0		0	0	98		98	97	1	2.060000	-5.910264	1	0.170000	NM_006245			33	33		614	596	0		1	1		0	0	98	0		1	9.909281e-01	0	15	0	122	0	33	614
KLHDC3	116138	broad.mit.edu	37	6	42986629	42986629	+	Silent	SNP	G	G	A	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.P149P|KLHDC3_ENST00000332245.8_Silent_p.P224P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	283					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522																																						ENST00000326974.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(847-849)ccG>ccA		kelch domain containing 3							60.0	72.0	68.0					6																	42986629		2202	4300	6502	SO:0001819	synonymous_variant	116138	8	121396	42				g.chr6:42986629G>A	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.849G>A	chr6.hg19:g.42986629G>A		0					KLHDC3_ENST00000332245.8_Silent_p.P224P|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.P149P	p.P283P	NM_057161.3	NP_476502.1	0	0	0	1.973144	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	8	1044	+			A8K2W9	Silent	SNP	ENST00000326974.4	1	1	hg19	c.849G>A	CCDS4880.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-20.000000	1	0.170000	NM_057161			128	122		610	598	1		1	1		0	0	107	0		1	1	0	45	0	178	0	128	610
CUL7	9820	broad.mit.edu	37	6	43005624	43005624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000265348.3	-	26	4984	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	CUL7_ENST00000535468.1_Silent_p.T1717T|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1633					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627																																						ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999961	0.990000	1.000000																										0				49						c.(4897-4899)acG>acA		cullin 7							86.0	73.0	78.0					6																	43005624		2203	4300	6503	SO:0001819	synonymous_variant	9820	5	121412	33				g.chr6:43005624C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4899G>A	chr6.hg19:g.43005624C>T		0					CUL7_ENST00000535468.1_Silent_p.T1717T|RN7SL403P_ENST00000481783.2_RNA	p.T1633T			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	26	4984	-			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	1	1	hg19	c.4899G>A	CCDS4881.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-16.587430	1	0.170000	NM_014780			26	26		120	118	1		1	1		0	0	24	0		1	9.999429e-01	0	17	0	59	0	26	120
CUL7	9820	broad.mit.edu	37	6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000265348.3	-	25	4759	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1558					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552																																						ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(4672-4674)caG>caT		cullin 7							130.0	110.0	117.0					6																	43006104		2203	4300	6503	SO:0001583	missense	9820	0	0					g.chr6:43006104C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4674G>T	chr6.hg19:g.43006104C>A	ENSP00000265348:p.Gln1558His	0					CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H|RN7SL403P_ENST00000481783.2_RNA	p.Q1558H			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	25	4759	-			B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	1	1	hg19	c.4674G>T	CCDS4881.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191752	0.38707	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79141	-1.24;-1.24	5.29	1.42	0.22433	5.29	1.42	0.22433	.	0.268668	0.34932	N	0.003570	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.25;0.291;0.162;0.0	B;B;B;B	0.30401	0.115;0.054;0.054;0.0	T	0.17501	-1.0367	10	0.54805	T	0.06	-10.2372	2.5613	0.04772	0.1212:0.4429:0.2375:0.1984	.	1642;1558;1642;1558	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1558;1642	ENSP00000265348:Q1558H;ENSP00000438788:Q1642H	ENSP00000265348:Q1558H	Q	-	3	2	2	CUL7	43114082	43114082	0.010000	0.17322	0.997000	0.53966	0.959000	0.62525	-0.314000	0.08092	0.592000	0.29728	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_014780			62	62		272	267	1		1	1		0	0	55	0		1	9.999889e-01	0	7	0	69	0	62	272
CUL7	9820	broad.mit.edu	37	6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A	rs202082916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000265348.3	-	25	4709	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1542					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542																																						ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(4624-4626)Cgg>Tgg		cullin 7		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	119.0	104.0	109.0		4876,4624	2.8	1.0	6		109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CUL7	NM_001168370.1,NM_014780.4	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1626/1783,1542/1699	43006154	2,13004	2203	4300	6503	SO:0001583	missense	9820	5	121412	40				g.chr6:43006154G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4624C>T	chr6.hg19:g.43006154G>A	ENSP00000265348:p.Arg1542Trp	0					CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W|RN7SL403P_ENST00000481783.2_RNA	p.R1542W			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	25	4709	-			B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	1	1	hg19	c.4624C>T	CCDS4881.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284334	0.23392	0.0	2.33E-4	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79554	-1.28;-1.28	5.18	2.85	0.33270	5.18	2.85	0.33270	Cullin homology (1);	0.596147	0.19181	N	0.120665	T	0.23688	0.0573	N	0.01048	-1.04	0.30040	N	0.812671	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.14254	-1.0479	10	0.16420	T	0.52	-8.6898	3.0282	0.06098	0.5254:0.0:0.2822:0.1924	.	1626;1542;1626;1542	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1542;1626	ENSP00000265348:R1542W;ENSP00000438788:R1626W	ENSP00000265348:R1542W	R	-	1	2	2	CUL7	43114132	43114132	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.931000	0.28871	0.819000	0.34492	-0.302000	0.09304	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	0		2	2	2	0		0	0	74		74	72	1	2.060000	-3.049057	1	0.170000	NM_014780			70	69		285	280	1		1	1		0	0	74	0		1	9.999929e-01	0	16	0	57	0	70	285
CUL7	9820	broad.mit.edu	37	6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000265348.3	-	9	2210	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_ENST00000535468.1_Missense_Mutation_p.D793N|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	709					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642																																						ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2125-2127)Gat>Aat		cullin 7							43.0	43.0	43.0					6																	43015930		2203	4300	6503	SO:0001583	missense	9820	0	0					g.chr6:43015930C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2125G>A	chr6.hg19:g.43015930C>T	ENSP00000265348:p.Asp709Asn	0					CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.D793N	p.D709N			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	9	2210	-			B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	1	1	hg19	c.2125G>A	CCDS4881.1	1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665082	0.67700	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65549	-0.16;-0.16	4.19	2.13	0.27403	4.19	2.13	0.27403	Armadillo-like helical (1);	0.282093	0.38605	N	0.001636	T	0.33059	0.0850	L	0.36672	1.1	0.80722	D	1	B;B	0.31548	0.328;0.311	B;B	0.34242	0.178;0.15	T	0.21381	-1.0247	10	0.41790	T	0.15	-21.882	7.6878	0.28550	0.1593:0.7418:0.0:0.0989	.	793;709	F5H0L1;Q14999	.;CUL7_HUMAN	N	709;793	ENSP00000265348:D709N;ENSP00000438788:D793N	ENSP00000265348:D709N	D	-	1	0	0	CUL7	43123908	43123908	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	3.089000	0.50183	1.044000	0.40200	0.655000	0.94253	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_014780			51	49		215	208	1		1	1		0	0	59	0		1	9.994103e-01	0	10	0	40	0	51	215
CUL7	9820	broad.mit.edu	37	6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A	rs199607543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000265348.3	-	8	2066	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_ENST00000535468.1_Missense_Mutation_p.R745W|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	661					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15628	0.0		0.0	False		,,,				2504	0.0					ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1981-1983)Cgg>Tgg		cullin 7																																				SO:0001583	missense	9820	5	121320	44				g.chr6:43016152G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1981C>T	chr6.hg19:g.43016152G>A	ENSP00000265348:p.Arg661Trp	0					CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R745W	p.R661W			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	8	2066	-			B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	1	1	hg19	c.1981C>T	CCDS4881.1	1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	16.85	3.236478	0.58886	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.19	4.89	-0.649	0.11461	4.89	-0.649	0.11461	Armadillo-like helical (1);	3.182340	0.00481	N	0.000140	T	0.40347	0.1113	N	0.22421	0.69	0.39262	D	0.964222	D;D	0.61697	0.987;0.99	P;P	0.51701	0.555;0.677	T	0.18840	-1.0324	10	0.87932	D	0	-13.2376	4.3319	0.11067	0.079:0.1285:0.2622:0.5303	.	745;661	F5H0L1;Q14999	.;CUL7_HUMAN	W	661;745	ENSP00000265348:R661W;ENSP00000438788:R745W	ENSP00000265348:R661W	R	-	1	2	2	CUL7	43124130	43124130	0.001000	0.12720	0.739000	0.30968	0.872000	0.50106	-0.148000	0.10219	-0.379000	0.07906	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1		2	2	2	0		0	0	258		258	230	1	2.060000	-20.000000	1	0.170000	NM_014780			227	218		1046	1005	1		1	1		0	0	258	0		1	9.951827e-01	0	4	0	35	0	227	1046
CUL7	9820	broad.mit.edu	37	6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000265348.3	-	6	1477	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	464					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577																																						ENST00000265348.3	0.710000	0.330000	6.100000e-01	4.100000e-01	0.500000	0.515909	0.500000	0.500000																										0				49						c.(1390-1392)tgG>tgA		cullin 7							108.0	99.0	102.0					6																	43017878		2203	4300	6503	SO:0001587	stop_gained	9820	0	0					g.chr6:43017878C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1392G>A	chr6.hg19:g.43017878C>T	ENSP00000265348:p.Trp464*	0					CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*	p.W464*			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	6	1477	-			B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	ENST00000265348.3	0	1	hg19	c.1392G>A	CCDS4881.1	0	.	.	.	.	.	.	.	.	.	.	C	37	6.253305	0.97417	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.258920	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9001	13.3299	0.60480	0.0:0.7068:0.2932:0.0	.	.	.	.	X	464;548	.	ENSP00000265348:W464X	W	-	3	0	0	CUL7	43125856	43125856	.	.	1.000000	0.80357	0.637000	0.38172	.	.	2.395000	0.81488	0.655000	0.94253	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	0	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-4.809983	1	0.170000	NM_014780			24	24		532	510	0		1	0		0	0	101	0		9.999995e-01	7.697299e-01	0	1	0	63	0	24	532
CUL7	9820	broad.mit.edu	37	6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000265348.3	-	2	165	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_ENST00000535468.1_Missense_Mutation_p.R79H			Q14999	CUL7_HUMAN	cullin 7	27					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637																																						ENST00000265348.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(79-81)cGc>cAc		cullin 7							53.0	56.0	55.0					6																	43020447		2203	4299	6502	SO:0001583	missense	9820	0	0					g.chr6:43020447C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.80G>A	chr6.hg19:g.43020447C>T	ENSP00000265348:p.Arg27His	0					CUL7_ENST00000535468.1_Missense_Mutation_p.R79H	p.R27H			0	0	0	1.973144	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)	2	165	-			B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	1	1	hg19	c.80G>A	CCDS4881.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.112437	0.94339	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85484	-1.95;-1.99	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.89366	0.3671	10	0.87932	D	0	-1.0124	16.2712	0.82622	0.0:0.8676:0.1324:0.0	.	79;27	F5H0L1;Q14999	.;CUL7_HUMAN	H	27;79	ENSP00000265348:R27H;ENSP00000438788:R79H	ENSP00000265348:R27H	R	-	2	0	0	CUL7	43128425	43128425	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.828000	0.69307	2.739000	0.93911	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-3.554723	1	0.170000	NM_014780			75	74		310	303	1		1	1		0	0	80	0		1	9.995704e-01	0	16	0	34	0	75	310
PTK7	5754	broad.mit.edu	37	6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	128	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)			GAGGCAGGTCCTGTGGTCCTG	0.612											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999862	0.990000	1.000000																										0				46						c.(382-384)cCt>cAt		protein tyrosine kinase 7							87.0	74.0	78.0					6																	43097480		2203	4300	6503	SO:0001583	missense	5754	0	0					g.chr6:43097480C>A	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.383C>A	chr6.hg19:g.43097480C>A	ENSP00000230419:p.Pro128His	0		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H	p.P128H	NM_002821.4	NP_002812.2	0	0	0	1.973144	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)	3	604	+			A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	1	1	hg19	c.383C>A	CCDS4884.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068967	0.76301	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.53	5.53	0.82687	5.53	5.53	0.82687	Immunoglobulin-like (1);	0.279534	0.39146	N	0.001457	T	0.70815	0.3267	M	0.89968	3.075	0.30688	N	0.751661	B;D;P;D;D;D	0.89917	0.116;0.993;0.94;0.978;0.973;1.0	B;P;P;P;P;D	0.80764	0.063;0.854;0.717;0.854;0.852;0.994	T	0.73503	-0.3962	10	0.72032	D	0.01	.	14.0021	0.64439	0.0:0.7268:0.2732:0.0	.	136;128;128;128;128;128	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	128;128;128;128;128;136;136	ENSP00000230419:P128H;ENSP00000419037:P128H;ENSP00000325462:P128H;ENSP00000326029:P128H;ENSP00000325992:P128H;ENSP00000418754:P136H	ENSP00000230418:P128H	P	+	2	0	0	PTK7	43205458	43205458	0.011000	0.17503	0.996000	0.52242	0.989000	0.77384	1.593000	0.36686	2.596000	0.87737	0.462000	0.41574	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2	1	0	1		2	2	2	0		0	0	82		82	79	1	2.060000	-2.967129	1	0.170000				42	42		273	271	1		1	1		0	0	82	0		1	9.999999e-01	0	4	0	164	0	42	273
PTK7	5754	broad.mit.edu	37	6	43113120	43113120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000481273.1_Silent_p.L872L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	864	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)			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)			GCTCCTGGGGCTGTGCCGGGA	0.622																																						ENST00000230419.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2590-2592)Ctg>Ttg		protein tyrosine kinase 7							62.0	56.0	58.0					6																	43113120		2203	4300	6503	SO:0001819	synonymous_variant	5754	0	0					g.chr6:43113120C>T	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.2590C>T	chr6.hg19:g.43113120C>T		0					PTK7_ENST00000481273.1_Silent_p.L872L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L	p.L864L	NM_002821.4	NP_002812.2	0	0	0	1.973144	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)	16	2811	+			A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	1	1	hg19	c.2590C>T	CCDS4884.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.009311	1	0.170000				78	74		312	309	1		1	1		0	0	58	0		1	1	0	11	0	278	0	78	312
CUL9	23113	broad.mit.edu	37	6	43152468	43152468	+	Silent	SNP	C	C	T	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000252050.4	+	2	504	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000372647.2_Silent_p.A140A|CUL9_ENST00000354495.3_Silent_p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	140					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)			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						GCCTCACGGCCGCTGTGCTTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.0					ENST00000252050.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(418-420)gcC>gcT		cullin 9		C		0,4406		0,0,2203	66.0	66.0	66.0		420	-3.6	0.8	6	dbSNP_134	66	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	CUL9	NM_015089.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		140/2518	43152468	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23113	17	121412	46				g.chr6:43152468C>T	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.420C>T	chr6.hg19:g.43152468C>T		0					CUL9_ENST00000354495.3_Silent_p.A140A|CUL9_ENST00000372647.2_Silent_p.A140A	p.A140A	NM_015089.2	NP_055904.1	0	0	0	1.973144	Q8IWT3	CUL9_HUMAN		2	504	+			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	1	1	hg19	c.420C>T	CCDS4890.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.189634	1	0.170000	NM_015089			92	91		427	421	1		1	1		0	0	93	0		1	9.627938e-01	0	7	0	20	0	92	427
CUL9	23113	broad.mit.edu	37	6	43155466	43155466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43155466G>A	ENST00000252050.4	+	7	1681	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CUL9_ENST00000372647.2_Missense_Mutation_p.A533T|CUL9_ENST00000354495.3_Missense_Mutation_p.A423T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	533					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)			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						GGGTGAAAAGGCCCTAGGTGA	0.517																																						ENST00000252050.4	0.410000	0.140000	3.400000e-01	1.900000e-01	0.260000	0.273607	0.260000	0.260000																										0				92						c.(1597-1599)Gcc>Acc		cullin 9							139.0	146.0	144.0					6																	43155466		2203	4300	6503	SO:0001583	missense	23113	0	0					g.chr6:43155466G>A	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.1597G>A	chr6.hg19:g.43155466G>A	ENSP00000252050:p.Ala533Thr	0					CUL9_ENST00000354495.3_Missense_Mutation_p.A423T|CUL9_ENST00000372647.2_Missense_Mutation_p.A533T	p.A533T	NM_015089.2	NP_055904.1	0	0	0	1.973144	Q8IWT3	CUL9_HUMAN		7	1681	+			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	0	1	hg19	c.1597G>A	CCDS4890.1	0	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899556	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73681	-0.77;-0.71;-0.67	5.61	2.82	0.32997	5.61	2.82	0.32997	.	0.786770	0.12384	N	0.473642	T	0.49321	0.1550	L	0.50333	1.59	0.36224	D	0.852169	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.10450	0.002;0.002;0.005	T	0.34030	-0.9845	10	0.40728	T	0.16	-7.4482	7.3	0.26415	0.1366:0.0:0.7271:0.1363	.	533;533;533	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	533;423;533	ENSP00000252050:A533T;ENSP00000346490:A423T;ENSP00000361730:A533T	ENSP00000252050:A533T	A	+	1	0	0	CUL9	43263444	43263444	0.001000	0.12720	0.336000	0.25522	0.711000	0.40976	0.341000	0.19909	0.292000	0.22492	0.467000	0.42956	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-2.845033	1	0.170000	NM_015089			14	14		616	604	0		1	0		0	0	129	0		9.997208e-01	9.775331e-02	0	1	0	21	0	14	616
CUL9	23113	broad.mit.edu	37	6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000252050.4	+	30	5843	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1920					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)			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						GGGGGTGTGGCCTGTACCAGT	0.577																																						ENST00000252050.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(5758-5760)gCc>gTc		cullin 9							104.0	105.0	104.0					6																	43182887		2203	4300	6503	SO:0001583	missense	23113	3	121412	34				g.chr6:43182887C>T	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.5759C>T	chr6.hg19:g.43182887C>T	ENSP00000252050:p.Ala1920Val	0					CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|RP3-330M21.5_ENST00000500590.1_RNA	p.A1920V	NM_015089.2	NP_055904.1	0	0	0	1.973144	Q8IWT3	CUL9_HUMAN		30	5843	+			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	1	1	hg19	c.5759C>T	CCDS4890.1	1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818911	0.50633	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.72;-0.72;-0.62	5.11	3.22	0.36961	5.11	3.22	0.36961	Cullin protein, neddylation domain (1);	0.807022	0.11802	N	0.528084	T	0.44603	0.1301	L	0.43152	1.355	0.29803	N	0.832275	P;B;B	0.45827	0.867;0.09;0.079	B;B;B	0.39027	0.288;0.028;0.021	T	0.42932	-0.9422	10	0.72032	D	0.01	-8.4531	6.4064	0.21666	0.0:0.5913:0.304:0.1047	.	1810;1892;1920	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1920;1810;1892	ENSP00000252050:A1920V;ENSP00000346490:A1810V;ENSP00000361730:A1892V	ENSP00000252050:A1920V	A	+	2	0	0	CUL9	43290865	43290865	0.910000	0.30920	0.999000	0.59377	0.733000	0.41908	0.174000	0.16743	2.377000	0.81083	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_015089			138	134		582	570	1		1	1		0	0	122	0		1	9.912947e-01	0	9	0	24	0	138	582
TTBK1	84630	broad.mit.edu	37	6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	678					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			CTCCCACGAGCTGTGCCTCTG	0.627																																						ENST00000259750.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2032-2034)gCt>gTt		tau tubulin kinase 1							95.0	104.0	101.0					6																	43250511		2203	4300	6503	SO:0001583	missense	84630	0	0					g.chr6:43250511C>T	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.2033C>T	chr6.hg19:g.43250511C>T	ENSP00000259750:p.Ala678Val	0						p.A678V	NM_032538.1	NP_115927.1	0	0	0	1.973144	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)	14	2116	+			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	1	1	hg19	c.2033C>T	CCDS34455.1	1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561581	0.27915	.	.	ENSG00000146216	ENST00000259750	T	0.50813	0.73	4.27	3.39	0.38822	4.27	3.39	0.38822	.	0.517766	0.18275	N	0.146196	T	0.13457	0.0326	N	0.25647	0.755	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07888	-1.0749	10	0.17832	T	0.49	.	6.3882	0.21572	0.0:0.6956:0.0:0.3044	.	678	Q5TCY1	TTBK1_HUMAN	V	678	ENSP00000259750:A678V	ENSP00000259750:A678V	A	+	2	0	0	TTBK1	43358489	43358489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.835000	0.39181	0.775000	0.33450	-0.300000	0.09419	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-20.000000	1	0.170000				131	128		652	643	1		1			0	0	154	0		1	0	0	0	0	0	0	131	652
TTBK1	84630	broad.mit.edu	37	6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	936					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			TTGCGGAGAAAACCCACCTCA	0.637																																						ENST00000259750.4	0.540000	0.190000	4.400000e-01	2.600000e-01	0.340000	0.357816	0.340000	0.340000																										0				53						c.(2806-2808)aaA>aaC		tau tubulin kinase 1							78.0	71.0	73.0					6																	43251286		2203	4300	6503	SO:0001583	missense	84630	0	0					g.chr6:43251286A>C	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.2808A>C	chr6.hg19:g.43251286A>C	ENSP00000259750:p.Lys936Asn	0						p.K936N	NM_032538.1	NP_115927.1	0	0	0	1.973144	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)	14	2891	+			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	1	1	hg19	c.2808A>C	CCDS34455.1	0	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074841	0.55646	.	.	ENSG00000146216	ENST00000259750	T	0.57273	0.41	5.14	2.48	0.30137	5.14	2.48	0.30137	.	0.073927	0.53938	D	0.000057	T	0.40196	0.1107	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.35450	-0.9788	10	0.66056	D	0.02	.	7.7415	0.28843	0.6333:0.0:0.3667:0.0	.	936	Q5TCY1	TTBK1_HUMAN	N	936	ENSP00000259750:K936N	ENSP00000259750:K936N	K	+	3	2	2	TTBK1	43359264	43359264	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.055000	0.30467	0.190000	0.20209	0.379000	0.24179	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	0	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-13.409500	1	0.170000				14	14		466	459	0		1	0		0	0	101	0		9.997349e-01	0	0	0	0	1	0	14	466
SLC22A7	10864	broad.mit.edu	37	6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	116					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)			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)	TGCTCTCAGGGCTGGGAGTAC	0.572																																						ENST00000372585.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(346-348)gGc>gAc		solute carrier family 22 (organic anion transporter), member 7	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)						62.0	66.0	64.0					6																	43266443		2203	4300	6503	SO:0001583	missense	10864	0	0					g.chr6:43266443G>A	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.347G>A	chr6.hg19:g.43266443G>A	ENSP00000361666:p.Gly116Asp	0					SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D	p.G116D	NM_153320.2	NP_696961.2	0	0	0	1.973144	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)	1	442	+			B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	1	1	hg19	c.347G>A	CCDS4893.2	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392893	0.83011	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.63	4.76	0.60689	5.63	4.76	0.60689	Major facilitator superfamily domain (1);	0.105475	0.64402	D	0.000004	T	0.66567	0.2802	M	0.90595	3.13	0.49915	D	0.999835	D;D;D	0.61697	0.99;0.987;0.987	D;D;D	0.71414	0.973;0.954;0.954	T	0.75897	-0.3155	10	0.87932	D	0	.	13.7614	0.62968	0.0:0.0:0.8451:0.1549	.	116;116;116	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	116	ENSP00000411818:G116D;ENSP00000361670:G116D;ENSP00000361666:G116D;ENSP00000361655:G116D	ENSP00000361655:G116D	G	+	2	0	0	SLC22A7	43374421	43374421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.944000	0.70219	1.361000	0.45981	0.563000	0.77884	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000				52	50		219	214	1		1			0	0	53	0		1	0	0	0	0	0	0	52	219
ZNF318	24149	broad.mit.edu	37	6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2135					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)			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)			CTTCCTCAGGCATCATTCCTC	0.458																																						ENST00000361428.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				61						c.(6403-6405)atG>atA		zinc finger protein 318							60.0	57.0	58.0					6																	43305331		2203	4300	6503	SO:0001583	missense	24149	0	0					g.chr6:43305331C>T	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.6405G>A	chr6.hg19:g.43305331C>T	ENSP00000354964:p.Met2135Ile	0					ZNF318_ENST00000318149.3_Intron	p.M2135I	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	6482	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	1	1	hg19	c.6405G>A	CCDS4895.2	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379689	0.42207	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	6.08	5.2	0.72013	6.08	5.2	0.72013	.	0.178249	0.40385	N	0.001120	T	0.03220	0.0094	L	0.27053	0.805	0.80722	D	1	B	0.24920	0.114	B	0.21708	0.036	T	0.27971	-1.0058	10	0.48119	T	0.1	-7.5726	6.961	0.24597	0.0:0.826:0.0:0.174	.	2135	Q5VUA4	ZN318_HUMAN	I	2135	ENSP00000354964:M2135I	ENSP00000354964:M2135I	M	-	3	0	0	ZNF318	43413309	43413309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.650000	0.24858	2.894000	0.99253	0.655000	0.94253	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_014345			35	33		182	178	1		1	1		0	0	56	0		1	9.726968e-01	0	13	0	20	0	35	182
ZNF318	24149	broad.mit.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					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)			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)			AGGTGATACAGAATTTTCTTC	0.468																																						ENST00000361428.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(6142-6144)tCt>tTt		zinc finger protein 318							91.0	82.0	85.0					6																	43305593		2203	4300	6503	SO:0001583	missense	24149	0	0					g.chr6:43305593G>A	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.6143C>T	chr6.hg19:g.43305593G>A	ENSP00000354964:p.Ser2048Phe	0					ZNF318_ENST00000318149.3_Intron	p.S2048F	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	6220	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	1	1	hg19	c.6143C>T	CCDS4895.2	1	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	0	ZNF318	43413571	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_014345			58	59		256	245	1		1	1		0	0	61	0		1	9.998176e-01	0	21	0	38	0	58	256
ZNF318	24149	broad.mit.edu	37	6	43305786	43305787	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C|T	T|C	C|T	C|T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786_43305787CT>TC	ENST00000361428.2	-	10	6026_6027	c.5949_5950AG>GA	c.(5947-5952)caAGat>caGAat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1984					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)			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)			GGATGGACATCTTGTAGCTCCA	0.45																																						ENST00000361428.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(5950-5952)Gat>Aat|c.(5947-5949)caA>caG		zinc finger protein 318																																				SO:0001583	missense	24149	0|1	0|121412	|38				g.chr6:43305786C>T|g.chr6:43305787T>C	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.5949_5950delinsTC	chr6.hg19:g.43305786_43305787delinsTC	ENSP00000354964:p.Asp1984Asn	0					ZNF318_ENST00000318149.3_Intron	p.D1984N|p.Q1983Q	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	6027|6026	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation|Silent	SNP	ENST00000361428.2	1	1	hg19	c.5950G>A|c.5949A>G	CCDS4895.2	1																									6.08|	2.36|	0.29203|																																												0|			43413764|														1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.450	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0|1	0	1		2	2	2	0		0	0	115		115|116	115|116	1	2.060000	-20.000000	1	0.170000	NM_014345			95|143	93|141		486|440	477|431	1		1	1		0	0	115|116	0		1	9.995207e-01|9.999975e-01	0	7|27	0	52|32	0	95	440
ZNF318	24149	broad.mit.edu	37	6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1335					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)			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)			AGGCATCCAAGGGCTGGTATG	0.478																																						ENST00000361428.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(4003-4005)cCt>cAt		zinc finger protein 318							197.0	187.0	190.0					6																	43307732		2203	4300	6503	SO:0001583	missense	24149	0	0					g.chr6:43307732G>T	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.4004C>A	chr6.hg19:g.43307732G>T	ENSP00000354964:p.Pro1335His	0					ZNF318_ENST00000318149.3_Intron	p.P1335H	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	4081	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	1	1	hg19	c.4004C>A	CCDS4895.2	1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880334	0.51801	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.091491	0.48286	D	0.000183	T	0.55337	0.1914	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58411	-0.7641	10	0.59425	D	0.04	-7.3954	15.3144	0.74062	0.0:0.1393:0.8607:0.0	.	1335	Q5VUA4	ZN318_HUMAN	H	1335	ENSP00000354964:P1335H	ENSP00000354964:P1335H	P	-	2	0	0	ZNF318	43415710	43415710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.178000	0.77657	2.683000	0.91414	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	1		17	2	2	1		1	1	125		125	124	1	2.060000	-3.203766	1	0.170000	NM_014345			123	122		504	494	1		1	1		1	0	125	0		1	9.618025e-01	0	8	0	16	0	123	504
ZNF318	24149	broad.mit.edu	37	6	43308239	43308239	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1166					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)			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)			ATCCACATATTTCTGGGAAGA	0.448																																						ENST00000361428.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.985563	0.990000	1.000000																										0				61						c.(3496-3498)aAa>aCa		zinc finger protein 318							21.0	22.0	22.0					6																	43308239		2024	4166	6190	SO:0001630	splice_region_variant	24149	0	0					g.chr6:43308239T>G	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.3496-1A>C	chr6.hg19:g.43308239T>G		0					ZNF318_ENST00000318149.3_Intron	p.K1166T	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	3574	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Splice_Site	SNP	ENST00000361428.2	0	1	hg19	c.3497A>C	CCDS4895.2	1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172794	0.57584	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	5.69	5.69	0.88448	Zinc finger, U1-type (1);	0.118294	0.56097	D	0.000028	T	0.65344	0.2682	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69971	-0.5000	10	0.72032	D	0.01	-9.9518	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1166	Q5VUA4	ZN318_HUMAN	T	1166	ENSP00000354964:K1166T	ENSP00000354964:K1166T	K	-	2	0	0	ZNF318	43416217	43416217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.399000	0.59703	2.168000	0.68352	0.533000	0.62120	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	1		2	2	2	0		0	0	47		47	44	1	2.060000	-20.000000	1	0.170000	NM_014345	Missense_Mutation		22	22		182	179	0		1	1		0	0	47	0		9.999990e-01	9.462555e-01	0	7	0	36	0	22	182
ZNF318	24149	broad.mit.edu	37	6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	364					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)			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)			AAAGAATATCCTGGCTCCGAT	0.512																																						ENST00000361428.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(1090-1092)Gga>Tga		zinc finger protein 318							176.0	144.0	155.0					6																	43324962		2203	4300	6503	SO:0001587	stop_gained	24149	0	0					g.chr6:43324962C>A	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.1090G>T	chr6.hg19:g.43324962C>A	ENSP00000354964:p.Gly364*	0					ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	p.G364*	NM_014345.2	NP_055160.2	0	0	0	1.973144	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	3	1167	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	0	1	hg19	c.1090G>T	CCDS4895.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.181517	0.97352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.175232	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6293	13.5617	0.61793	0.0:0.7976:0.2024:0.0	.	.	.	.	X	364	.	ENSP00000323032:G364X	G	-	1	0	0	ZNF318	43432940	43432940	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	3.062000	0.49971	2.663000	0.90544	0.650000	0.86243	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1		2	2	2	0		0	0	86		86	84	1	2.060000	-2.989396	1	0.170000	NM_014345			69	67		319	309	1		1	1		0	0	86	0		1	9.974306e-01	0	12	0	32	0	69	319
ABCC10	89845	broad.mit.edu	37	6	43400035	43400035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400035G>A	ENST00000372530.4	+	3	532	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.C63Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	106					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTGGCAGGGTGCGTGGCAGCT	0.637																																						ENST00000372530.4	0.440000	0.130000	3.500000e-01	1.800000e-01	0.260000	0.274803	0.260000	0.260000																										0				56						c.(316-318)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)						70.0	68.0	69.0					6																	43400035		2203	4300	6503	SO:0001583	missense	89845	0	0					g.chr6:43400035G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.317G>A	chr6.hg19:g.43400035G>A	ENSP00000361608:p.Cys106Tyr	0					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.C63Y	p.C106Y	NM_001198934.1	NP_001185863.1	0	0	0	1.973144	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	3	532	+	all_lung(25;0.00536)		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	0	1	hg19	c.317G>A	CCDS56430.1	0	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207194	0.22205	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.38560	1.13;1.13	5.94	4.12	0.48240	5.94	4.12	0.48240	.	0.099265	0.64402	D	0.000001	T	0.12774	0.0310	N	0.14661	0.345	0.34038	D	0.654614	P;P	0.42649	0.786;0.681	B;B	0.44044	0.439;0.254	T	0.08659	-1.0711	10	0.02654	T	1	-1.4033	16.6428	0.85130	0.0:0.2452:0.7548:0.0	.	63;106	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	106;63	ENSP00000361608:C106Y;ENSP00000244533:C63Y	ENSP00000244533:C63Y	C	+	2	0	0	ABCC10	43508013	43508013	1.000000	0.71417	0.815000	0.32552	0.020000	0.10135	6.256000	0.72473	0.810000	0.34279	0.561000	0.74099	TGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-9.088138	1	0.170000	NM_033450			10	10		448	442	0		1	1		0	0	86	0		9.967367e-01	7.793290e-02	0	2	0	17	0	10	448
ABCC10	89845	broad.mit.edu	37	6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000372530.4	+	3	921	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.G193W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	236					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTGGCCCGTGGGGCCTGTGG	0.637																																						ENST00000372530.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(706-708)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)						42.0	44.0	43.0					6																	43400424		2202	4300	6502	SO:0001583	missense	89845	0	0					g.chr6:43400424G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.706G>T	chr6.hg19:g.43400424G>T	ENSP00000361608:p.Gly236Trp	0					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.G193W	p.G236W	NM_001198934.1	NP_001185863.1	0	0	0	1.973144	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	3	921	+	all_lung(25;0.00536)		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	1	1	hg19	c.706G>T	CCDS56430.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458568	0.84317	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.95690	-3.78;-3.66	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.056809	0.64402	D	0.000001	D	0.96156	0.8747	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-37.4308	19.4753	0.94985	0.0:0.0:1.0:0.0	.	193;236	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	236;193	ENSP00000361608:G236W;ENSP00000244533:G193W	ENSP00000244533:G193W	G	+	1	0	0	ABCC10	43508402	43508402	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.799000	0.99117	2.607000	0.88179	0.561000	0.74099	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-3.142447	1	0.170000	NM_033450			85	83		388	382	1		1	1		0	0	81	0		1	9.584887e-01	0	8	0	18	0	85	388
ABCC10	89845	broad.mit.edu	37	6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000372530.4	+	3	939	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R199W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGAGAGCTCCGGCAGCCTCA	0.637																																						ENST00000372530.4	0.480000	0.140000	3.900000e-01	2.000000e-01	0.280000	0.302777	0.280000	0.280000																										0				56						c.(724-726)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	39.0	41.0	40.0		724,595	4.7	1.0	6	dbSNP_134	40	1,8599		0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	242/1493,199/1465	43400442	1,13005	2203	4300	6503	SO:0001583	missense	89845	2	121412	34				g.chr6:43400442C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.724C>T	chr6.hg19:g.43400442C>T	ENSP00000361608:p.Arg242Trp	0					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R199W	p.R242W	NM_001198934.1	NP_001185863.1	0	0	0	1.973144	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	3	939	+	all_lung(25;0.00536)		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	1	1	hg19	c.724C>T	CCDS56430.1	0	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754339	0.49362	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91124	-2.78;-2.79	5.54	4.66	0.58398	5.54	4.66	0.58398	.	0.660669	0.16213	N	0.224391	D	0.83069	0.5174	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.64830	0.994;0.978	P;B	0.51229	0.663;0.232	T	0.78306	-0.2255	10	0.72032	D	0.01	-34.6797	13.566	0.61819	0.4012:0.5988:0.0:0.0	.	199;242	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	242;199	ENSP00000361608:R242W;ENSP00000244533:R199W	ENSP00000244533:R199W	R	+	1	2	2	ABCC10	43508420	43508420	0.980000	0.34600	0.973000	0.42090	0.700000	0.40528	2.161000	0.42358	1.316000	0.45131	0.561000	0.74099	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	0	0	0		2	2	2	0		0	0	66		66	64	1	2.060000	-3.014114	1	0.170000	NM_033450			10	10		405	398	0		1	1		0	0	66	0		9.966864e-01	2.274881e-01	0	3	0	31	0	10	405
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000372530.4	+	22	4643	c.4428G>A	c.(4426-4428)caG>caA	p.Q1476Q	ABCC10_ENST00000244533.3_Silent_p.Q1448Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGTTCCAGCAGCTGCTGCAGA	0.652																																						ENST00000372530.4	1.000000	0.560000	9.300000e-01	6.700000e-01	0.790000	0.800861	0.790000	1.000000																										1	Substitution - Missense(1)	p.Q1448H(1)	kidney(1)	56						c.(4426-4428)caG>caA		ATP-binding cassette, sub-family C (CFTR/MRP), member 10	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)						53.0	60.0	57.0					6																	43417778		2203	4300	6503	SO:0001819	synonymous_variant	89845	0	0					g.chr6:43417778G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4428G>A	chr6.hg19:g.43417778G>A		0					ABCC10_ENST00000244533.3_Silent_p.Q1448Q	p.Q1476Q	NM_001198934.1	NP_001185863.1	0	0	0	1.973144	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	22	4643	+	all_lung(25;0.00536)		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	1	1	hg19	c.4428G>A	CCDS56430.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_033450			35	35		477	463	1		1	1		0	0	107	0		1	9.223522e-01	0	17	0	44	0	35	477
DLK2	65989	broad.mit.edu	37	6	43418966	43418966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43418966C>T	ENST00000357338.3	-	6	1163	c.463G>A	c.(463-465)Gct>Act	p.A155T	DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	155	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGTTGAGAGCAAAGCCCTGG	0.592																																						ENST00000357338.3	0.800000	0.190000	6.200000e-01	3.000000e-01	0.440000	0.468358	0.440000	0.410000																										0				7						c.(463-465)Gct>Act		delta-like 2 homolog (Drosophila)							76.0	50.0	59.0					6																	43418966		2203	4300	6503	SO:0001583	missense	65989	0	0					g.chr6:43418966C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.463G>A	chr6.hg19:g.43418966C>T	ENSP00000349893:p.Ala155Thr	0					DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T	p.A155T	NM_206539.1	NP_996262.1	0	0	0	1.973144	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	6	1163	-	all_lung(25;0.00536)		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	0	1	hg19	c.463G>A	CCDS4897.1	0	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010763	0.93346	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.51	4.51	0.55191	4.51	4.51	0.55191	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.37800	1.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.88787	0.3275	10	0.49607	T	0.09	.	17.7506	0.88432	0.0:1.0:0.0:0.0	.	155	Q6UY11	DLK2_HUMAN	T	149;155;155;149	ENSP00000361563:A149T;ENSP00000361566:A155T;ENSP00000349893:A155T;ENSP00000398906:A149T	ENSP00000349893:A155T	A	-	1	0	0	DLK2	43526944	43526944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.355000	0.79434	2.507000	0.84556	0.455000	0.32223	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-9.214063	1	0.170000	NM_023932			7	7		184	183	0		1	0		0	0	39	0		9.808451e-01	0	0	0	0	1	0	7	184
DLK2	65989	broad.mit.edu	37	6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	67	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632																																						ENST00000357338.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(199-201)caG>caT		delta-like 2 homolog (Drosophila)							53.0	42.0	46.0					6																	43420813		2203	4300	6503	SO:0001583	missense	65989	0	0					g.chr6:43420813C>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.201G>T	chr6.hg19:g.43420813C>A	ENSP00000349893:p.Gln67His	0					DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H	p.Q67H	NM_206539.1	NP_996262.1	0	0	0	1.973144	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	4	901	-	all_lung(25;0.00536)		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	1	1	hg19	c.201G>T	CCDS4897.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457599|3.457599	0.63401|0.63401	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;T;T;D|.	0.89875|.	-2.58;-0.23;-0.23;-2.58|.	4.72|4.72	3.85|3.85	0.44370|0.44370	4.72|4.72	3.85|3.85	0.44370|0.44370	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.488214|.	0.20090|.	N|.	0.099473|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.20328|0.20328	0.56|0.56	0.37571|0.37571	D|D	0.919444|0.919444	P|.	0.52316|.	0.952|.	B|.	0.42163|.	0.378|.	T|T	0.06445|0.06445	-1.0826|-1.0826	10|5	0.42905|.	T|.	0.14|.	.|.	4.6506|4.6506	0.12592|0.12592	0.1278:0.4869:0.3006:0.0847|0.1278:0.4869:0.3006:0.0847	.|.	67|.	Q6UY11|.	DLK2_HUMAN|.	H|I	67|4	ENSP00000361563:Q67H;ENSP00000361566:Q67H;ENSP00000349893:Q67H;ENSP00000398906:Q67H|.	ENSP00000349893:Q67H|.	Q|S	-|-	3|2	2|0	2|0	DLK2|DLK2	43528791|43528791	43528791|43528791	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	-0.042000|-0.042000	0.12063|0.12063	1.115000|1.115000	0.41800|0.41800	-0.350000|-0.350000	0.07774|0.07774	CAG|AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	1	0	1		2	2	2	0		0	0	56		56	43	1	2.060000	-20.000000	1	0.170000	NM_023932			58	54		190	167	1		1			0	0	56	0		1	0	0	0	0	0	0	58	190
YIPF3	25844	broad.mit.edu	37	6	43480031	43480031	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000372422.2	-	9	1109	c.927C>A	c.(925-927)ggC>ggA	p.G309G	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.G315G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612																																						ENST00000372422.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(925-927)ggC>ggA		Yip1 domain family, member 3							71.0	79.0	76.0					6																	43480031		2203	4300	6503	SO:0001819	synonymous_variant	25844	0	0					g.chr6:43480031G>T	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.927C>A	chr6.hg19:g.43480031G>T		0					YIPF3_ENST00000506469.1_Silent_p.G315G|LRRC73_ENST00000372441.1_5'Flank	p.G309G	NM_015388.3	NP_056203.2	0	0	0	1.973144	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)	9	1109	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	1	1	hg19	c.927C>A	CCDS4899.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_015388			87	86		395	387	1		1	1		0	0	94	0		1	1	0	217	0	528	0	87	395
YIPF3	25844	broad.mit.edu	37	6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000372422.2	-	6	814	c.632C>T	c.(631-633)gCc>gTc	p.A211V	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	211					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTGATCTGGGCGTTGCACAG	0.567																																						ENST00000372422.2	0.420000	0.180000	3.600000e-01	2.300000e-01	0.280000	0.298665	0.280000	0.280000																										0				9						c.(631-633)gCc>gTc		Yip1 domain family, member 3							123.0	124.0	124.0					6																	43480841		2203	4300	6503	SO:0001583	missense	25844	0	0					g.chr6:43480841G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.632C>T	chr6.hg19:g.43480841G>A	ENSP00000361499:p.Ala211Val	0					YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V|LRRC73_ENST00000372441.1_5'Flank	p.A211V	NM_015388.3	NP_056203.2	0	0	0	1.973144	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)	6	814	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	1	1	hg19	c.632C>T	CCDS4899.1	0	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590806	0.66219	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.44482	0.92;0.92	5.62	4.75	0.60458	5.62	4.75	0.60458	.	0.050002	0.85682	D	0.000000	T	0.26557	0.0649	L	0.43152	1.355	0.80722	D	1	P;B;P;B	0.42296	0.775;0.06;0.573;0.06	B;B;B;B	0.41412	0.356;0.028;0.14;0.028	T	0.04678	-1.0934	10	0.44086	T	0.13	-23.0835	13.9454	0.64082	0.0726:0.0:0.9274:0.0	.	160;217;176;211	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	211;160;217	ENSP00000361499:A211V;ENSP00000425494:A217V	ENSP00000361499:A211V	A	-	2	0	0	YIPF3	43588819	43588819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.653000	0.90120	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	0	0	1		2	2	2	0		0	0	170		170	168	1	2.060000	-15.835200	1	0.170000	NM_015388			21	21		828	815	0		1	1		0	0	170	0		9.999970e-01	9.999945e-01	0	31	0	757	0	21	828
POLH	5429	broad.mit.edu	37	6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)			CCTGCAGCTCACCGTGGGAGC	0.458								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(571-573)Acc>Gcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							120.0	121.0	120.0					6																	43565513		2203	4300	6503	SO:0001583	missense	5429	0	0		Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr6:43565513A>G	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.571A>G	chr6.hg19:g.43565513A>G	ENSP00000361310:p.Thr191Ala	0					POLH_ENST00000535400.1_Missense_Mutation_p.T129A|POLH_ENST00000372226.1_Missense_Mutation_p.T191A	p.T191A	NM_006502.2	NP_006493.1	0	0	0	1.973144	O75417	DPOLQ_HUMAN	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)	5	866	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	1	1	hg19	c.571A>G	CCDS4902.1	1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201592	0.09652	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	5.4	0.78164	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.282328	0.40385	N	0.001111	T	0.13243	0.0321	N	0.00621	-1.32	0.39626	D	0.970104	B;B	0.12630	0.002;0.006	B;B	0.12837	0.005;0.008	T	0.33085	-0.9882	10	0.08381	T	0.77	-32.9496	9.0597	0.36427	0.9162:0.0:0.0838:0.0	.	129;191	B4DG64;Q9Y253	.;POLH_HUMAN	A	191;129;191	ENSP00000361310:T191A;ENSP00000442102:T129A;ENSP00000361300:T191A	ENSP00000361300:T191A	T	+	1	0	0	POLH	43673491	43673491	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.911000	0.48774	2.051000	0.60960	0.467000	0.42956	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_006502			64	64		324	321	1		1	1		0	0	78	0		1	9.966247e-01	0	11	0	35	0	64	324
RSPH9	221421	broad.mit.edu	37	6	43638647	43638647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372163.4	+	5	845	c.792C>T	c.(790-792)ggC>ggT	p.G264G	RSPH9_ENST00000372165.4_Missense_Mutation_p.H282Y	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	264					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532									Kartagener syndrome																													ENST00000372163.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(790-792)ggC>ggT		radial spoke head 9 homolog (Chlamydomonas)							93.0	72.0	79.0					6																	43638647		2203	4300	6503	SO:0001819	synonymous_variant	221421	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr6:43638647C>T	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.792C>T	chr6.hg19:g.43638647C>T		0					RSPH9_ENST00000372165.4_Missense_Mutation_p.H282Y	p.G264G	NM_152732.4	NP_689945.2	0	0	0	1.973144	Q9H1X1	RSPH9_HUMAN		5	845	+			A8K5T4|Q96NH9	Silent	SNP	ENST00000372163.4	1	1	hg19	c.792C>T	CCDS4905.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104727	0.77096	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	5.11	0.69529	5.97	5.11	0.69529	.	0.475237	0.26082	N	0.026444	T	0.42268	0.1195	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49969	-0.8882	8	0.87932	D	0	-0.498	13.149	0.59478	0.0:0.9227:0.0:0.0773	.	282	Q96NH9	.	Y	282	.	ENSP00000361238:H282Y	H	+	1	0	0	RSPH9	43746625	43746625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.430000	0.34914	1.536000	0.49237	0.655000	0.94253	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_152732			56	56		225	221	1		1	1		0	0	53	0		1	4.987369e-01	0	2	0	6	0	56	225
TMEM63B	55362	broad.mit.edu	37	6	44116249	44116249	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			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)			CATCTTTCTAGCATCCTGAAG	0.622																																						ENST00000259746.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.e14-1		transmembrane protein 63B							105.0	96.0	99.0					6																	44116249		2203	4300	6503	SO:0001630	splice_region_variant	55362	0	0					g.chr6:44116249G>T	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.1122-1G>T	chr6.hg19:g.44116249G>T		0					TMEM63B_ENST00000323267.6_Splice_Site				0	0	0	1.973144	Q5T3F8	CSCL2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)	14	1304	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	1	1	hg19		CCDS34461.1	1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153572	0.57259	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	4.38	4.38	0.52667	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1371	0.81494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TMEM63B	44224227	44224227	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.663000	0.83820	2.280000	0.76307	0.563000	0.77884	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	XM_166410	Intron		90	88		464	455	1		1			0	0	93	0		1	0	0	0	0	0	0	90	464
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)			CAACCTCATGGATGTATCCTC	0.592																																						ENST00000398776.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1867-1869)Gat>Aat		calpain 11							232.0	236.0	235.0					6																	44148732		2045	4193	6238	SO:0001583	missense	11131	1	120996	34				g.chr6:44148732G>A	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.1867G>A	chr6.hg19:g.44148732G>A	ENSP00000381758:p.Asp623Asn	0					CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	p.D623N	NM_007058.3	NP_008989.2	0	0	0	1.973144	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	18	1905	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	1	1	hg19	c.1867G>A	CCDS47436.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.303276	0.95601	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.95949	-3.86;-3.86	5.01	5.01	0.66863	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.47455	D	0.000228	D	0.98896	0.9626	H	0.99169	4.455	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	17.4776	0.87664	0.0:0.0:1.0:0.0	.	277;623	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	623	ENSP00000381758:D623N;ENSP00000441078:D623N	ENSP00000381758:D623N	D	+	1	0	0	CAPN11	44256710	44256710	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.616000	0.98359	2.611000	0.88343	0.493000	0.49557	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3	1	0	1		2	2	2	0		0	0	214		214	213	1	2.060000	-20.000000	1	0.170000				187	180		866	843	1		1	1		0	0	214	0		1	9.419924e-01	0	2	0	22	0	187	866
NFKBIE	4794	broad.mit.edu	37	6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	299					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612																																						ENST00000275015.5	1.000000	0.260000	8.100000e-01	4.000000e-01	0.580000	0.608157	0.580000	1.000000																										0				10						c.(895-897)cAt>cGt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							20.0	21.0	21.0					6																	44229575		2201	4296	6497	SO:0001583	missense	4794	0	0					g.chr6:44229575T>C	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.896A>G	chr6.hg19:g.44229575T>C	ENSP00000275015:p.His299Arg	0						p.H299R	NM_004556.2	NP_004547.2	0	0	0	1.973144	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	3	895	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	1	1	hg19	c.896A>G	CCDS34463.1	0	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922890	0.18056	.	.	ENSG00000146232	ENST00000275015	T	0.71341	-0.56	5.28	5.28	0.74379	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.059370	0.64402	D	0.000003	D	0.85323	0.5670	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	10	0.87932	D	0	-0.4291	14.894	0.70630	0.0:0.0:0.0:1.0	.	299	O00221	IKBE_HUMAN	R	299	ENSP00000275015:H299R	ENSP00000275015:H299R	H	-	2	0	0	NFKBIE	44337553	44337553	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.040000	0.89188	2.000000	0.58554	0.533000	0.62120	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-13.528550	1	0.170000				7	7		137	134	0		1	1		0	0	25	0		9.799782e-01	9.487892e-01	0	4	0	102	0	7	137
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGTGACGGCCAGCAGGCG	0.627																																						ENST00000244571.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				34						c.(2338-2340)gCc>gTc		alanyl-tRNA synthetase 2, mitochondrial							36.0	35.0	36.0					6																	44270564		2203	4300	6503	SO:0001583	missense	57505	0	0					g.chr6:44270564G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2339C>T	chr6.hg19:g.44270564G>A	ENSP00000244571:p.Ala780Val	0					RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	p.A780V	NM_020745.3	NP_065796	0	0	0	1.973144			Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	17	2341	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)			Missense_Mutation	SNP	ENST00000244571.4	1	1	hg19	c.2339C>T	CCDS34464.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360816	0.61403	.	.	ENSG00000124608	ENST00000244571	T	0.71817	-0.6	5.79	5.79	0.91817	5.79	5.79	0.91817	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.110343	0.64402	D	0.000008	T	0.62974	0.2472	M	0.71581	2.175	0.80722	D	1	B	0.25390	0.125	B	0.22152	0.038	T	0.65693	-0.6106	10	0.87932	D	0	-17.9853	17.1959	0.86892	0.0:0.0:1.0:0.0	.	780	Q5JTZ9	SYAM_HUMAN	V	780	ENSP00000244571:A780V	ENSP00000244571:A780V	A	-	2	0	0	AARS2	44378542	44378542	1.000000	0.71417	0.965000	0.40720	0.353000	0.29299	6.556000	0.73932	2.733000	0.93635	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_020745			31	31		138	137	1		1	1		0	0	23	0		1	9.920972e-01	0	13	0	24	0	31	138
AARS2	57505	broad.mit.edu	37	6	44272508	44272508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTGTCCCGTCCTCTGTAT	0.617											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1624-1626)gaC>gaT		alanyl-tRNA synthetase 2, mitochondrial							46.0	47.0	47.0					6																	44272508		2203	4300	6503	SO:0001819	synonymous_variant	57505	13	121412	41				g.chr6:44272508G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1626C>T	chr6.hg19:g.44272508G>A		0		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	p.D542D	NM_020745.3	NP_065796	0	0	0	1.973144			Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	12	1628	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)			Silent	SNP	ENST00000244571.4	1	1	hg19	c.1626C>T	CCDS34464.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_020745			46	46		218	217	0		1	1		0	0	51	0		1	9.822917e-01	0	9	0	24	0	46	218
AARS2	57505	broad.mit.edu	37	6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCAGGTTGGCGATCTGAAC	0.587																																						ENST00000244571.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1192-1194)gCc>gAc		alanyl-tRNA synthetase 2, mitochondrial							130.0	121.0	124.0					6																	44274124		2203	4300	6503	SO:0001583	missense	57505	0	0					g.chr6:44274124G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1193C>A	chr6.hg19:g.44274124G>T	ENSP00000244571:p.Ala398Asp	0					RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	p.A398D	NM_020745.3	NP_065796	0	0	0	1.973144			Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	9	1195	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)			Missense_Mutation	SNP	ENST00000244571.4	1	1	hg19	c.1193C>A	CCDS34464.1	1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382178	0.24944	.	.	ENSG00000124608	ENST00000244571	T	0.72167	-0.63	4.27	1.43	0.22495	4.27	1.43	0.22495	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);	0.445087	0.24960	N	0.034237	T	0.41743	0.1172	L	0.45581	1.43	0.23120	N	0.998261	P	0.43542	0.81	P	0.46629	0.522	T	0.32955	-0.9887	10	0.14656	T	0.56	-3.1415	3.9844	0.09509	0.4692:0.0:0.3673:0.1635	.	398	Q5JTZ9	SYAM_HUMAN	D	398	ENSP00000244571:A398D	ENSP00000244571:A398D	A	-	2	0	0	AARS2	44382102	44382102	0.098000	0.21812	0.833000	0.33012	0.012000	0.07955	1.033000	0.30191	0.462000	0.27095	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_020745			170	165		750	737	1		1	1		0	0	146	0		1	9.999539e-01	0	15	0	49	0	170	750
AARS2	57505	broad.mit.edu	37	6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T	rs186740566	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACATCTTCCAGGTCGTTATGG	0.517																																						ENST00000244571.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(352-354)Ctg>Atg		alanyl-tRNA synthetase 2, mitochondrial							180.0	141.0	154.0					6																	44279892		2203	4300	6503	SO:0001583	missense	57505	0	0					g.chr6:44279892G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.352C>A	chr6.hg19:g.44279892G>T	ENSP00000244571:p.Leu118Met	0					RP11-444E17.6_ENST00000505802.1_Intron	p.L118M	NM_020745.3	NP_065796	0	0	0	1.973144			Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	2	354	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)			Missense_Mutation	SNP	ENST00000244571.4	1	1	hg19	c.352C>A	CCDS34464.1	1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630469	0.67015	.	.	ENSG00000124608	ENST00000244571	D	0.87966	-2.32	4.9	3.07	0.35406	4.9	3.07	0.35406	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.93625	0.7964	H	0.95365	3.66	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.94091	0.7353	10	0.87932	D	0	-13.8404	10.0341	0.42118	0.2216:0.0:0.7784:0.0	.	118	Q5JTZ9	SYAM_HUMAN	M	118	ENSP00000244571:L118M	ENSP00000244571:L118M	L	-	1	2	2	AARS2	44387870	44387870	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.275000	0.43399	1.279000	0.44446	0.436000	0.28706	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.172561	1	0.170000	NM_020745			116	114		542	530	1		1	1		0	0	120	0		1	9.675329e-01	0	7	0	21	0	116	542
CDC5L	988	broad.mit.edu	37	6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	234	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383																																						ENST00000371477.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(700-702)Gct>Act		cell division cycle 5-like							68.0	72.0	70.0					6																	44371706		2203	4300	6503	SO:0001583	missense	988	0	0					g.chr6:44371706G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.700G>A	chr6.hg19:g.44371706G>A	ENSP00000360532:p.Ala234Thr	0						p.A234T	NM_001253.3	NP_001244.1	0	0	0	1.973144	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	6	999	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	1	1	hg19	c.700G>A	CCDS4912.1	1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063710	0.20067	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	6.04	2.18	0.27775	6.04	2.18	0.27775	.	0.513757	0.22903	N	0.054234	T	0.09024	0.0223	L	0.31752	0.955	0.27819	N	0.941867	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.14656	T	0.56	-2.4246	5.9318	0.19142	0.1846:0.0:0.4174:0.398	.	234	Q99459	CDC5L_HUMAN	T	234	ENSP00000360532:A234T	ENSP00000360532:A234T	A	+	1	0	0	CDC5L	44479684	44479684	0.448000	0.25681	0.998000	0.56505	0.799000	0.45148	-0.073000	0.11468	0.110000	0.17919	0.563000	0.77884	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				89	85		365	360	1		1	1		0	0	82	0		1	1	0	39	0	142	0	89	365
CDC5L	988	broad.mit.edu	37	6	44394257	44394257	+	Silent	SNP	G	G	A	rs375237261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTAGAACCGCCTTTAACAG	0.284																																						ENST00000371477.3	0.670000	0.130000	5.100000e-01	2.100000e-01	0.340000	0.368135	0.340000	0.320000																										0				29						c.(1687-1689)ccG>ccA		cell division cycle 5-like		G		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	51.0		1689	-2.5	1.0	6		51	0,8596		0,0,4298	no	coding-synonymous	CDC5L	NM_001253.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		563/803	44394257	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	988	4	121388	35				g.chr6:44394257G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1689G>A	chr6.hg19:g.44394257G>A		0						p.P563P	NM_001253.3	NP_001244.1	0	0	0	1.973144	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	13	1988	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Q76N46|Q99974	Silent	SNP	ENST00000371477.3	0	1	hg19	c.1689G>A	CCDS4912.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1	0	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-3.469882	1	0.170000				5	5		177	173	0		1	1		0	0	56	0		9.347300e-01	9.197412e-01	0	8	0	157	0	5	177
RUNX2	860	broad.mit.edu	37	6	45459688	45459688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	232					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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418																																						ENST00000371438.1	1.000000	0.700000	9.800000e-01	7.800000e-01	0.870000	0.880167	0.870000	1.000000																										0				34						c.(694-696)caG>caA		runt-related transcription factor 2							436.0	351.0	380.0					6																	45459688		2203	4300	6503	SO:0001819	synonymous_variant	860	0	0					g.chr6:45459688G>A	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.696G>A	chr6.hg19:g.45459688G>A		0					RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q	p.Q232Q	NM_001024630.3	NP_001019801.3	0	0	0	1.973144	Q13950	RUNX2_HUMAN		5	1054	+			O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	1	1	hg19	c.696G>A	CCDS43467.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	1	0	1		2	2	2	0		0	0	167		167	166	1	2.060000	-15.780010	1	0.170000	NM_004348			79	78		963	943	0		1	0		0	0	167	0		1	5.327373e-01	0	0	0	23	0	79	963
RUNX2	860	broad.mit.edu	37	6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	476	Pro/Ser/Thr-rich.				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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507																																						ENST00000371438.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				34						c.(1426-1428)aCc>aTc		runt-related transcription factor 2							94.0	87.0	89.0					6																	45514903		2203	4300	6503	SO:0001583	missense	860	0	0					g.chr6:45514903C>T	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.1427C>T	chr6.hg19:g.45514903C>T	ENSP00000360493:p.Thr476Ile	0					RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I	p.T476I	NM_001024630.3	NP_001019801.3	0	0	0	1.973144	Q13950	RUNX2_HUMAN		8	1785	+			O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	1	1	hg19	c.1427C>T	CCDS43467.2	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006934	0.74932	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	5.77	5.77	0.91146	Runx inhibition (1);	0.043176	0.85682	D	0.000000	T	0.26340	0.0643	N	0.08118	0	0.53688	D	0.999974	P;P;P	0.49447	0.696;0.924;0.692	B;P;B	0.58266	0.373;0.836;0.275	T	0.34079	-0.9843	10	0.72032	D	0.01	-9.0178	20.3627	0.98863	0.0:1.0:0.0:0.0	.	522;476;462	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	476;544;522;476;454;462;440	ENSP00000420707:T476I;ENSP00000319087:T544I;ENSP00000446290:T522I;ENSP00000360493:T476I;ENSP00000360491:T454I;ENSP00000352514:T462I;ENSP00000360486:T440I	ENSP00000319087:T544I	T	+	2	0	0	RUNX2	45622881	45622881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_004348			61	60		346	332	1		1	0		0	0	73	0		1	5.596029e-01	0	0	0	12	0	61	346
CLIC5	53405	broad.mit.edu	37	6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	383	GST C-terminal.				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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537																																						ENST00000185206.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1147-1149)Cgt>Tgt		chloride intracellular channel 5							139.0	106.0	117.0					6																	45870911		2203	4300	6503	SO:0001583	missense	53405	0	0					g.chr6:45870911G>A	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.1147C>T	chr6.hg19:g.45870911G>A	ENSP00000185206:p.Arg383Cys	0					CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	p.R383C	NM_001114086.1	NP_001107558.1	0	0	0	1.973144	Q9NZA1	CLIC5_HUMAN		6	1299	-			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	1	1	hg19	c.1147C>T	CCDS47438.1	1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519403	0.64634	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95788	-3.81;-3.81	5.89	5.89	0.94794	5.89	5.89	0.94794	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052231	0.85682	D	0.000000	D	0.94225	0.8146	M	0.87547	2.89	0.80722	D	1	P;B	0.45715	0.865;0.195	B;B	0.39119	0.291;0.026	D	0.94849	0.8012	10	0.66056	D	0.02	.	14.1243	0.65210	0.0:0.0:0.7506:0.2494	.	383;224	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	383;224	ENSP00000185206:R383C;ENSP00000344165:R224C	ENSP00000185206:R383C	R	-	1	0	0	CLIC5	45978889	45978889	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.030000	0.49720	2.790000	0.95986	0.637000	0.83480	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.603516	1	0.170000				56	55		265	256	1		1	1		0	0	59	0		1	9.999992e-01	0	22	0	79	0	56	265
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393																																						ENST00000321037.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(520-522)tCg>tTg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							113.0	112.0	112.0					6																	46107841		2203	4299	6502	SO:0001583	missense	22875	1	121402	34				g.chr6:46107841C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.521C>T	chr6.hg19:g.46107841C>T	ENSP00000318066:p.Ser174Leu	0						p.S174L	NM_014936.4	NP_055751.1	0	0	0	1.973144	Q9Y6X5	ENPP4_HUMAN		2	751	+			A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	1	1	hg19	c.521C>T	CCDS34468.1	1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	0	ENPP4	46215800	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-3.223221	1	0.170000				101	99		541	534	1		1	1		0	0	118	0		1	1	0	48	0	82	0	101	541
ENPP4	22875	broad.mit.edu	37	6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	256					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388																																						ENST00000321037.4	0.660000	0.230000	5.400000e-01	3.100000e-01	0.410000	0.432441	0.410000	0.410000																										0				18						c.(766-768)Gat>Tat		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							95.0	93.0	93.0					6																	46108086		2203	4300	6503	SO:0001583	missense	22875	0	0					g.chr6:46108086G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.766G>T	chr6.hg19:g.46108086G>T	ENSP00000318066:p.Asp256Tyr	0						p.D256Y	NM_014936.4	NP_055751.1	0	0	0	1.973144	Q9Y6X5	ENPP4_HUMAN		2	996	+			A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	1	1	hg19	c.766G>T	CCDS34468.1	0	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848678	0.17034	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77229	-1.08	5.67	-4.04	0.04010	5.67	-4.04	0.04010	Alkaline-phosphatase-like, core domain (1);	0.748364	0.14196	N	0.334993	T	0.73265	0.3565	M	0.88105	2.93	0.09310	N	1	P	0.44690	0.841	P	0.50314	0.637	T	0.73786	-0.3873	10	0.87932	D	0	-1.2773	8.3418	0.32247	0.4755:0.099:0.4256:0.0	.	256	Q9Y6X5	ENPP4_HUMAN	Y	256	ENSP00000318066:D256Y	ENSP00000318066:D256Y	D	+	1	0	0	ENPP4	46216045	46216045	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	-1.063000	0.03177	-0.768000	0.03414	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.722993	1	0.170000				13	11		356	353	1		1	1		0	0	83	0		9.995120e-01	9.529548e-01	0	13	0	131	0	13	356
ENPP5	59084	broad.mit.edu	37	6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468																																						ENST00000371383.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1216-1218)gTg>gCg		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							174.0	160.0	165.0					6																	46129280		2203	4300	6503	SO:0001583	missense	59084	0	0					g.chr6:46129280A>G	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.1217T>C	chr6.hg19:g.46129280A>G	ENSP00000360436:p.Val406Ala	0					ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A	p.V406A			0	0	0	1.973144				5	1477	-				Missense_Mutation	SNP	ENST00000371383.2	1	1	hg19	c.1217T>C	CCDS4915.1	1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.432032	0.00184	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73469	-0.75;-0.75	5.1	-2.1	0.07210	5.1	-2.1	0.07210	.	6.658910	0.00166	N	0.000000	T	0.15825	0.0381	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.10902	T	0.67	3.9963	6.3607	0.21427	0.3714:0.0:0.5109:0.1177	.	406	Q9UJA9	ENPP5_HUMAN	A	406	ENSP00000360436:V406A;ENSP00000230565:V406A	ENSP00000230565:V406A	V	-	2	0	0	ENPP5	46237239	46237239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.369000	0.08028	-3.486000	0.00034	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2	1	0	1		2	2	2	0		0	0	116		116	113	1	2.060000	-20.000000	1	0.170000				97	92		438	435	1		1	1		0	0	116	0		1	9.999994e-01	0	30	0	63	0	97	438
CYP39A1	51302	broad.mit.edu	37	6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	340					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)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343																																						ENST00000275016.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									EIF3K/CYP39A1(2)	0				21						c.(1018-1020)gCt>gAt		cytochrome P450, family 39, subfamily A, polypeptide 1							93.0	100.0	97.0					6																	46563770		2203	4300	6503	SO:0001583	missense	51302	0	0					g.chr6:46563770G>T	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.1019C>A	chr6.hg19:g.46563770G>T	ENSP00000275016:p.Ala340Asp	0						p.A340D	NM_016593.3	NP_057677.2	0	0	0	1.973144	Q9NYL5	CP39A_HUMAN		8	1222	-			Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	1	1	hg19	c.1019C>A	CCDS4916.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870297	0.72065	.	.	ENSG00000146233	ENST00000275016	T	0.66995	-0.24	5.7	4.81	0.61882	5.7	4.81	0.61882	.	0.299368	0.31734	N	0.007156	T	0.71829	0.3386	M	0.72894	2.215	0.41562	D	0.988633	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.76329	-0.2999	10	0.59425	D	0.04	-5.92	14.1785	0.65559	0.0:0.0:0.8503:0.1497	.	320;340	B7Z786;Q9NYL5	.;CP39A_HUMAN	D	340	ENSP00000275016:A340D	ENSP00000275016:A340D	A	-	2	0	0	CYP39A1	46671729	46671729	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	4.444000	0.60001	1.344000	0.45657	0.557000	0.71058	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1	0	0	1		17	2	2	1		1	1	101		101	100	1	2.060000	-20.000000	1	0.170000				94	90		389	383	1		1	1		1	0	101	0		1	7.864049e-01	0	3	0	11	0	94	389
CYP39A1	51302	broad.mit.edu	37	6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	70					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)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318																																						ENST00000275016.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999838	0.990000	1.000000																									EIF3K/CYP39A1(2)	0				21						c.(208-210)gGa>gAa		cytochrome P450, family 39, subfamily A, polypeptide 1							63.0	63.0	63.0					6																	46610004		2202	4297	6499	SO:0001583	missense	51302	0	0					g.chr6:46610004C>T	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.209G>A	chr6.hg19:g.46610004C>T	ENSP00000275016:p.Gly70Glu	0						p.G70E	NM_016593.3	NP_057677.2	0	0	0	1.973144	Q9NYL5	CP39A_HUMAN		2	412	-			Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	1	1	hg19	c.209G>A	CCDS4916.1	1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846263	0.71603	.	.	ENSG00000146233	ENST00000275016	T	0.68479	-0.33	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	10	0.87932	D	0	-15.2661	17.2743	0.87111	0.0:1.0:0.0:0.0	.	70;70	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	70	ENSP00000275016:G70E	ENSP00000275016:G70E	G	-	2	0	0	CYP39A1	46717963	46717963	1.000000	0.71417	0.439000	0.26833	0.789000	0.44602	5.604000	0.67626	2.436000	0.82500	0.563000	0.77884	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-16.097430	1	0.170000				30	30		173	170	1		1	0		0	0	56	0		1	3.462113e-01	0	1	0	7	0	30	173
TDRD6	221400	broad.mit.edu	37	6	46657569	46657569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000316081.6	+	1	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Silent_p.F568F	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	568	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443																																						ENST00000316081.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1702-1704)ttC>ttT		tudor domain containing 6							169.0	167.0	167.0					6																	46657569		2203	4300	6503	SO:0001819	synonymous_variant	221400	0	0					g.chr6:46657569C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1704C>T	chr6.hg19:g.46657569C>T		0					RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Silent_p.F568F|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	p.F568F	NM_001010870.2	NP_001010870.1	0	0	0	1.973144	O60522	TDRD6_HUMAN	Lung(136;0.192)	1	1704	+			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	1	1	hg19	c.1704C>T	CCDS34470.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	1	0	1		2	2	2	0		0	0	153		153	152	1	2.060000	-20.000000	1	0.170000	XM_166443			197	197		778	768	1		1			0	0	153	0		1	0	0	0	0	0	0	197	778
TDRD6	221400	broad.mit.edu	37	6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000316081.6	+	1	5936	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1979					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388																																						ENST00000316081.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(5935-5937)tTt>tAt		tudor domain containing 6							117.0	119.0	118.0					6																	46661801		2203	4300	6503	SO:0001583	missense	221400	0	0					g.chr6:46661801T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5936T>A	chr6.hg19:g.46661801T>A	ENSP00000346065:p.Phe1979Tyr	0					TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	p.F1979Y	NM_001010870.2	NP_001010870.1	0	0	0	1.973144	O60522	TDRD6_HUMAN	Lung(136;0.192)	1	5936	+			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	1	1	hg19	c.5936T>A	CCDS34470.1	1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432198	0.43122	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.23754	1.89;1.92	5.41	2.87	0.33458	5.41	2.87	0.33458	.	1.567150	0.03542	N	0.224098	T	0.20129	0.0484	M	0.63843	1.955	0.09310	N	1	P;P	0.45827	0.867;0.791	P;B	0.49829	0.623;0.419	T	0.13361	-1.0512	10	0.59425	D	0.04	-0.4369	5.8137	0.18479	0.1681:0.0:0.1756:0.6563	.	1979;1979	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1979;1979;40	ENSP00000443299:F1979Y;ENSP00000346065:F1979Y	ENSP00000346065:F1979Y	F	+	2	0	0	TDRD6	46769760	46769760	0.003000	0.15002	0.010000	0.14722	0.076000	0.17211	0.362000	0.20284	0.296000	0.22592	0.455000	0.32223	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	XM_166443			100	98		358	348	1		1			0	0	83	0		1	0	0	0	0	0	0	100	358
PLA2G7	7941	broad.mit.edu	37	6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	286					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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284																																						ENST00000274793.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(856-858)Gat>Aat		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							91.0	93.0	92.0					6																	46677077		2203	4296	6499	SO:0001583	missense	7941	0	0					g.chr6:46677077C>T	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.856G>A	chr6.hg19:g.46677077C>T	ENSP00000274793:p.Asp286Asn	0					PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	p.D286N	NM_005084.3	NP_005075.3	0	0	0	1.973144	Q13093	PAFA_HUMAN	Lung(136;0.192)	9	1052	-			A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	1	1	hg19	c.856G>A	CCDS4917.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.345431	0.95807	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.56776	0.44;0.44	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.093957	0.64402	D	0.000001	T	0.70675	0.3251	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71576	-0.4551	10	0.62326	D	0.03	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	286	Q13093	PAFA_HUMAN	N	286	ENSP00000274793:D286N;ENSP00000445666:D286N	ENSP00000274793:D286N	D	-	1	0	0	PLA2G7	46785036	46785036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.031000	0.76491	2.814000	0.96858	0.655000	0.94253	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				90	88		302	294	1		1	0		0	0	82	0		1	1	0	0	0	106	0	90	302
MEP1A	4224	broad.mit.edu	37	6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	178	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473																																						ENST00000230588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(532-534)aTc>aGc		meprin A, alpha (PABA peptide hydrolase)							301.0	280.0	287.0					6																	46787418		2203	4300	6503	SO:0001583	missense	4224	0	0					g.chr6:46787418T>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.533T>G	chr6.hg19:g.46787418T>G	ENSP00000230588:p.Ile178Ser	0						p.I178S	NM_005588.2	NP_005579.2	0	0	0	1.973144	Q16819	MEP1A_HUMAN	Lung(136;0.192)	7	542	+			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	1	1	hg19	c.533T>G	CCDS4918.1	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734390	0.89482	.	.	ENSG00000112818	ENST00000230588	T	0.72615	-0.67	5.81	5.81	0.92471	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93521	0.6861	10	0.87932	D	0	-26.6282	16.1678	0.81782	0.0:0.0:0.0:1.0	.	206;178	B7ZL91;Q16819	.;MEP1A_HUMAN	S	178	ENSP00000230588:I178S	ENSP00000230588:I178S	I	+	2	0	0	MEP1A	46895377	46895377	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-20.000000	1	0.170000	NM_005588			137	135		695	686	1		1			0	0	173	0		1	0	0	0	0	0	0	137	695
MEP1A	4224	broad.mit.edu	37	6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	308	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483																																						ENST00000230588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(922-924)tGc>tAc		meprin A, alpha (PABA peptide hydrolase)							142.0	131.0	135.0					6																	46794235		2203	4300	6503	SO:0001583	missense	4224	0	0					g.chr6:46794235G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.923G>A	chr6.hg19:g.46794235G>A	ENSP00000230588:p.Cys308Tyr	0						p.C308Y	NM_005588.2	NP_005579.2	0	0	0	1.973144	Q16819	MEP1A_HUMAN	Lung(136;0.192)	9	932	+			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	1	1	hg19	c.923G>A	CCDS4918.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054545	0.75960	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.9	5.9	0.94986	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66168	-0.5991	10	0.87932	D	0	-26.3005	20.2822	0.98520	0.0:0.0:1.0:0.0	.	336;308	B7ZL91;Q16819	.;MEP1A_HUMAN	Y	308	ENSP00000230588:C308Y	ENSP00000230588:C308Y	C	+	2	0	0	MEP1A	46902194	46902194	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	7.554000	0.82212	2.806000	0.96561	0.655000	0.94253	TGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_005588			77	77		336	328	1		1	0		0	0	80	0		1	0	0	0	0	1	0	77	336
MEP1A	4224	broad.mit.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	rs565677690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0					ENST00000230588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2122-2124)Cgc>Tgc		meprin A, alpha (PABA peptide hydrolase)							144.0	130.0	135.0					6																	46806754		2203	4300	6503	SO:0001583	missense	4224	3	121412	37				g.chr6:46806754C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	chr6.hg19:g.46806754C>T	ENSP00000230588:p.Arg708Cys	0						p.R708C	NM_005588.2	NP_005579.2	0	0	0	1.973144	Q16819	MEP1A_HUMAN	Lung(136;0.192)	14	2131	+			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	1	1	hg19	c.2122C>T	CCDS4918.1	1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	0	MEP1A	46914713	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1		2	2	2	0		0	0	148		148	144	1	2.060000	-20.000000	1	0.170000	NM_005588			135	129		648	634	1		1			0	0	148	0		1	0	0	0	0	0	0	135	648
GPR116	221395	broad.mit.edu	37	6	46827246	46827246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000265417.7_Silent_p.T798T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	798					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)			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)			TGACATTAACCGTAGAGAGCA	0.393																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				59						c.(2392-2394)acG>acA		G protein-coupled receptor 116							34.0	34.0	34.0					6																	46827246		2203	4300	6503	SO:0001819	synonymous_variant	221395	2	121398	28				g.chr6:46827246C>T	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.2394G>A	chr6.hg19:g.46827246C>T		0					GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000545669.1_Silent_p.T227T	p.T798T	NM_001098518.1	NP_001091988.1	0	0	0	1.973144	Q8IZF2	GP116_HUMAN	Lung(136;0.192)	17	2682	-			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	1	1	hg19	c.2394G>A	CCDS4919.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1		2	2	2	0		0	0	54		54	57	1	2.060000	-2.671591	1	0.170000	NM_015234			36	36		167	160	1		1	0		0	0	54	0		1	9.996116e-01	0	0	0	59	0	36	167
GPR116	221395	broad.mit.edu	37	6	46834846	46834846	+	Silent	SNP	C	C	T	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000265417.7_Silent_p.K550K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	550	Ig-like 3.				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)			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)			TGTATGAATTCTTATATCTAA	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(1648-1650)aaG>aaA		G protein-coupled receptor 116							119.0	117.0	117.0					6																	46834846		2203	4300	6503	SO:0001819	synonymous_variant	221395	0	0					g.chr6:46834846C>T	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.1650G>A	chr6.hg19:g.46834846C>T		0					GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000545669.1_5'UTR	p.K550K	NM_001098518.1	NP_001091988.1	0	0	0	1.973144	Q8IZF2	GP116_HUMAN	Lung(136;0.192)	13	1938	-			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	1	1	hg19	c.1650G>A	CCDS4919.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.977525	1	0.170000	NM_015234			65	65		339	336	1		1	0		0	0	78	0		1	9.750508e-01	0	0	0	33	0	65	339
GPR116	221395	broad.mit.edu	37	6	46836688	46836688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46836688G>A	ENST00000283296.7	-	12	1841	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	518	Ig-like 3.				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)			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)			CCTCCTCGTGGTATAAAATCT	0.418																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7	0.560000	0.190000	4.600000e-01	2.600000e-01	0.350000	0.367102	0.350000	0.340000																										0				59						c.(1552-1554)aCc>aTc		G protein-coupled receptor 116							108.0	108.0	108.0					6																	46836688		2203	4300	6503	SO:0001583	missense	221395	0	0					g.chr6:46836688G>A	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.1553C>T	chr6.hg19:g.46836688G>A	ENSP00000283296:p.Thr518Ile	0					GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000545669.1_5'UTR	p.T518I	NM_001098518.1	NP_001091988.1	0	0	0	1.973144	Q8IZF2	GP116_HUMAN	Lung(136;0.192)	12	1841	-			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	0	1	hg19	c.1553C>T	CCDS4919.1	0	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462255	0.12342	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.22134	2.5;2.5;1.97;2.5	5.47	2.65	0.31530	5.47	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.729338	0.12712	N	0.445422	T	0.05090	0.0136	L	0.29908	0.895	0.36252	D	0.853988	P;P;P;P	0.49783	0.544;0.72;0.928;0.72	B;B;B;B	0.40066	0.047;0.235;0.318;0.235	T	0.34601	-0.9822	10	0.13108	T	0.6	-8.4634	8.9	0.35487	0.2453:0.0:0.7547:0.0	.	73;518;376;518	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	518;518;518;376;518	ENSP00000283296:T518I;ENSP00000354563:T518I;ENSP00000412866:T376I;ENSP00000265417:T518I	ENSP00000265417:T518I	T	-	2	0	0	GPR116	46944647	46944647	0.669000	0.27502	0.938000	0.37757	0.340000	0.28889	1.419000	0.34793	0.653000	0.30826	0.591000	0.81541	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	0	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.570004	1	0.170000	NM_015234			13	13		423	418	0		1	0		0	0	86	0		9.995119e-01	2.380206e-01	0	0	0	29	0	13	423
GPR116	221395	broad.mit.edu	37	6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	148					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)			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)			CAATGGTGCCCTGGGAGGAAG	0.493																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7	0.780000	0.370000	6.700000e-01	4.500000e-01	0.550000	0.568268	0.550000	0.550000																										0				59						c.(442-444)Ggg>Tgg		G protein-coupled receptor 116							143.0	124.0	131.0					6																	46851895		2203	4300	6503	SO:0001583	missense	221395	0	0					g.chr6:46851895C>A	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.442G>T	chr6.hg19:g.46851895C>A	ENSP00000283296:p.Gly148Trp	0					GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W	p.G148W	NM_001098518.1	NP_001091988.1	0	0	0	1.973144	Q8IZF2	GP116_HUMAN	Lung(136;0.192)	5	730	-			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	1	1	hg19	c.442G>T	CCDS4919.1	0	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571997	0.45798	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.30981	1.52;1.91;1.51;1.52	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.367868	0.24549	N	0.037572	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.985;0.995;0.985	T	0.45175	-0.9279	10	0.87932	D	0	-11.1153	14.5188	0.67838	0.0:1.0:0.0:0.0	.	148;148;148	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	W	148	ENSP00000283296:G148W;ENSP00000354563:G148W;ENSP00000412866:G148W;ENSP00000265417:G148W	ENSP00000265417:G148W	G	-	1	0	0	GPR116	46959854	46959854	0.979000	0.34478	0.920000	0.36463	0.148000	0.21650	2.084000	0.41625	2.572000	0.86782	0.655000	0.94253	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.687468	1	0.170000	NM_015234			26	26		519	504	0		1	0		0	0	104	0		9.999999e-01	4.521285e-01	0	0	0	31	0	26	519
GPR116	221395	broad.mit.edu	37	6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000265417.7_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	65					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)			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)			TCAATATTAACAGTGTATTCT	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(193-195)Gtt>Att		G protein-coupled receptor 116							139.0	128.0	131.0					6																	46856207		2203	4300	6503	SO:0001583	missense	221395	0	0					g.chr6:46856207C>T	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.193G>A	chr6.hg19:g.46856207C>T	ENSP00000283296:p.Val65Ile	0					GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000265417.7_Missense_Mutation_p.V65I	p.V65I	NM_001098518.1	NP_001091988.1	0	0	0	1.973144	Q8IZF2	GP116_HUMAN	Lung(136;0.192)	4	481	-			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	1	1	hg19	c.193G>A	CCDS4919.1	1	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272212	0.10349	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	1.6;1.99;1.61;1.6	5.66	2.36	0.29203	5.66	2.36	0.29203	.	0.224788	0.30311	N	0.009918	T	0.05135	0.0137	N	0.20986	0.625	0.21445	N	0.99968	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.14023	0.002;0.01;0.002	T	0.37126	-0.9719	10	0.16420	T	0.52	-12.8691	4.0781	0.09914	0.0:0.5774:0.1901:0.2325	.	65;65;65	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	65	ENSP00000283296:V65I;ENSP00000354563:V65I;ENSP00000412866:V65I;ENSP00000265417:V65I	ENSP00000265417:V65I	V	-	1	0	0	GPR116	46964166	46964166	0.196000	0.23350	0.196000	0.23383	0.143000	0.21401	0.543000	0.23237	0.821000	0.34540	-0.137000	0.14449	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_015234			78	76		316	311	1		1	0		0	0	66	0		1	9.923784e-01	0	0	0	33	0	78	316
GPR110	266977	broad.mit.edu	37	6	46989795	46989795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274																																						ENST00000371253.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				29						c.e6-1		G protein-coupled receptor 110							48.0	53.0	51.0					6																	46989795		2199	4287	6486	SO:0001630	splice_region_variant	266977	0	0					g.chr6:46989795C>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.452-1G>T	chr6.hg19:g.46989795C>A		0					GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site		NM_153840.2	NP_722582.2	0	0	0	1.973144	Q5T601	GP110_HUMAN		6	667	-			Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	1	1	hg19		CCDS34471.1	1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750104	0.15778	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.62	4.76	0.60689	5.62	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.743	0.46164	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	.	GPR110	47097754	47097754	1.000000	0.71417	0.886000	0.34754	0.094000	0.18550	3.505000	0.53356	1.527000	0.49086	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-2.856527	1	0.170000	NM_153840	Intron		46	46		247	244	1		1			0	0	68	0		1	0	0	0	0	0	0	46	247
CD2AP	23607	broad.mit.edu	37	6	47471177	47471177	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCGTTAAGGTAAGTATTTT	0.318																																						ENST00000359314.5	0.680000	0.200000	5.400000e-01	2.900000e-01	0.400000	0.424300	0.400000	0.390000																										0				20						c.e2+1		CD2-associated protein							92.0	93.0	93.0					6																	47471177		2203	4300	6503	SO:0001630	splice_region_variant	23607	0	0					g.chr6:47471177G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.165+1G>A	chr6.hg19:g.47471177G>A		0							NM_012120.2	NP_036252.1	0	0	0	1.973144	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)	2	621	+			A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	1	1	hg19		CCDS34472.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389631	0.82902	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9996	0.89195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CD2AP	47579136	47579136	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.452000	0.90346	2.245000	0.73994	0.591000	0.81541	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-11.034890	1	0.170000		Intron		10	10		284	278	0		1			0	0	61	0		9.966854e-01	0	0	0	0	0	0	10	284
OPN5	221391	broad.mit.edu	37	6	47776030	47776030	+	Silent	SNP	G	G	A	rs200073746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47776030G>A	ENST00000371211.2	+	5	925	c.897G>A	c.(895-897)gcG>gcA	p.A299A	OPN5_ENST00000489301.2_Silent_p.A299A|OPN5_ENST00000393699.2_Silent_p.A299A|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AATCTGCAGCGATGTACAATC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19694	0.001		0.0	False		,,,				2504	0.0				Melanoma(28;740 973 10870 42660 45347)	ENST00000371211.2	0.470000	0.190000	4.000000e-01	2.500000e-01	0.310000	0.330652	0.310000	0.320000																										0				29						c.(895-897)gcG>gcA		opsin 5							226.0	208.0	214.0					6																	47776030		2203	4300	6503	SO:0001819	synonymous_variant	221391	10	121412	45				g.chr6:47776030G>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.897G>A	chr6.hg19:g.47776030G>A		0					OPN5_ENST00000489301.2_Silent_p.A299A|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.A299A	p.A299A	NM_181744.3	NP_859528.1	0	0	0	1.973144	Q6U736	OPN5_HUMAN		5	925	+			A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	1	1	hg19	c.897G>A	CCDS4923.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	0	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-2.753691	1	0.170000	NM_181744			20	19		711	696	0		1			0	0	124	0		9.999939e-01	0	0	0	0	0	0	20	711
MUT	4594	broad.mit.edu	37	6	49426795	49426795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	129					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)			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)	AAAATCTCACCCTTAATGTTG	0.348																																						ENST00000274813.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996286	0.990000	1.000000																										0				30	GRCh37	CD065768	MUT	D		c.(385-387)Gct>Tct		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	64.0	64.0					6																	49426795		2203	4300	6503	SO:0001630	splice_region_variant	4594	0	0					g.chr6:49426795C>A		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.385+1G>T	chr6.hg19:g.49426795C>A		0						p.A129S	NM_000255.3	NP_000246.2	0	0	0	1.973144	P22033	MUTA_HUMAN		2	512	-	Lung NSC(77;0.0376)		A8K953|Q5SYZ3|Q96B11|Q9UD64	Splice_Site	SNP	ENST00000274813.3	1	0	hg19	c.385G>T	CCDS4924.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721302	0.68959	.	.	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.73	4.85	0.62838	5.73	4.85	0.62838	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	0.98620	0.9538	M	0.85859	2.78	0.80722	D	1	P	0.39782	0.688	P	0.57679	0.825	D	0.99053	1.0828	9	.	.	.	-11.523	15.3823	0.74669	0.1403:0.8597:0.0:0.0	.	129	P22033	MUTA_HUMAN	S	129	ENSP00000274813:A129S	.	A	-	1	0	0	MUT	49534754	49534754	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.445000	0.80570	1.509000	0.48786	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		27	27		200	196	0		1	1		0	0	57	0		1	9.925828e-01	0	3	0	57	0	27	200
MUT	4594	broad.mit.edu	37	6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	33					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)			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)	TTGCTGGTGTAGAAGTCGTTG	0.483																																						ENST00000274813.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(97-99)cTa>cCa		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						119.0	116.0	117.0					6																	49427082		2203	4300	6503	SO:0001583	missense	4594	0	0					g.chr6:49427082A>G		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.98T>C	chr6.hg19:g.49427082A>G	ENSP00000274813:p.Leu33Pro	0						p.L33P	NM_000255.3	NP_000246.2	0	0	0	1.973144	P22033	MUTA_HUMAN		2	225	-	Lung NSC(77;0.0376)		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	1	1	hg19	c.98T>C	CCDS4924.1	1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534520	0.45073	.	.	ENSG00000146085	ENST00000274813	D	0.98264	-4.83	5.38	5.38	0.77491	5.38	5.38	0.77491	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.279818	0.29846	N	0.011045	D	0.96358	0.8812	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.98338	1.0537	10	0.54805	T	0.06	-5.9567	14.8593	0.70366	1.0:0.0:0.0:0.0	.	33	P22033	MUTA_HUMAN	P	33	ENSP00000274813:L33P	ENSP00000274813:L33P	L	-	2	0	0	MUT	49535041	49535041	1.000000	0.71417	0.944000	0.38274	0.706000	0.40770	6.361000	0.73070	2.165000	0.68154	0.533000	0.62120	CTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000				64	64		337	329	1		1	1		0	0	80	0		1	9.999328e-01	0	22	0	54	0	64	337
CRISP1	167	broad.mit.edu	37	6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378																																						ENST00000335847.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(166-168)gTt>gGt		cysteine-rich secretory protein 1							175.0	162.0	167.0					6																	49819742		2203	4300	6503	SO:0001583	missense	167	0	0					g.chr6:49819742A>C	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.167T>G	chr6.hg19:g.49819742A>C	ENSP00000338276:p.Val56Gly	0					CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G	p.V56G	NM_001131.2	NP_001122.2	0	0	0	1.973144	P54107	CRIS1_HUMAN		3	268	-	Lung NSC(77;0.0358)		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	1	1	hg19	c.167T>G	CCDS4931.1	1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667597	0.29604	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.06	-2.72	0.05968	5.06	-2.72	0.05968	CAP domain (3);	2.580360	0.01107	N	0.005496	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B;P	0.44521	0.444;0.837	B;B	0.36030	0.086;0.216	T	0.24297	-1.0164	9	.	.	.	.	3.2892	0.06943	0.3582:0.0:0.3343:0.3075	.	56;56	P54107-2;P54107	.;CRIS1_HUMAN	G	56	ENSP00000425020:V56G;ENSP00000338276:V56G;ENSP00000348044:V56G;ENSP00000331317:V56G;ENSP00000427589:V56G;ENSP00000441798:V56G	.	V	-	2	0	0	CRISP1	49927701	49927701	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.585000	0.00423	-0.638000	0.05509	-0.256000	0.11100	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_001131			83	82		349	347	1		1			0	0	72	0		1	0	0	0	0	0	0	83	349
TFAP2D	83741	broad.mit.edu	37	6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											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)					GATCCACCACGGGGAGCCCAC	0.622																																						ENST00000008391.3	0.690000	0.310000	5.900000e-01	3.900000e-01	0.480000	0.498223	0.480000	0.480000																										0				60						c.(322-324)Ggg>Agg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							111.0	101.0	104.0					6																	50683111		2203	4300	6503	SO:0001583	missense	83741	0	0					g.chr6:50683111G>A	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.322G>A	chr6.hg19:g.50683111G>A	ENSP00000008391:p.Gly108Arg	0						p.G108R	NM_172238.3	NP_758438.2	0	0	0	1.973144				2	550	+	Lung NSC(77;0.0334)			Missense_Mutation	SNP	ENST00000008391.3	1	1	hg19	c.322G>A	CCDS4933.1	0	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020360	0.54576	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.052063	0.85682	D	0.000000	D	0.95723	0.8609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97398	0.9994	10	0.56958	D	0.05	-16.1546	19.1268	0.93388	0.0:0.0:1.0:0.0	.	108	Q7Z6R9	AP2D_HUMAN	R	108	ENSP00000008391:G108R	ENSP00000008391:G108R	G	+	1	0	0	TFAP2D	50791070	50791070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-2.654730	1	0.170000	NM_172238			24	24		552	537	0		1			0	0	104	0		9.999996e-01	0	0	0	0	0	0	24	552
TFAP2B	7021	broad.mit.edu	37	6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000393655.3	+	1	221	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	18					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)			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)					GAAGCTTGTGGAGAATGTCAA	0.483																																					Pancreas(116;1373 2332 5475 10752)	ENST00000393655.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				40						c.(52-54)Gag>Aag		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							113.0	94.0	100.0					6																	50786656		2203	4300	6503	SO:0001583	missense	7021	0	0					g.chr6:50786656G>A	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.52G>A	chr6.hg19:g.50786656G>A	ENSP00000377265:p.Glu18Lys	0					TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	p.E18K	NM_003221.3	NP_003212.2	0	0	0	1.973144	Q92481	AP2B_HUMAN		1	221	+	Lung NSC(77;0.156)		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	1	1	hg19	c.52G>A	CCDS4934.2	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198890	0.79015	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76839	-1.05;-1.05;-1.05	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.392398	0.26700	N	0.022955	T	0.59074	0.2167	L	0.36672	1.1	0.80722	D	1	B	0.31893	0.345	B	0.26864	0.074	T	0.68318	-0.5440	10	0.72032	D	0.01	-3.8225	16.8977	0.86105	0.0:0.0:1.0:0.0	.	18	Q92481	AP2B_HUMAN	K	18;7;18	ENSP00000377265:E18K;ENSP00000342252:E7K;ENSP00000263046:E18K	ENSP00000263046:E18K	E	+	1	0	0	TFAP2B	50894615	50894615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	2.036000	0.60181	0.561000	0.74099	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-3.042581	1	0.170000	NM_003221			36	34		193	190	1		1			0	0	51	0		1	0	0	0	0	0	0	36	193
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		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.R3913R(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)					GTGATTCTCGGCGTTTGGATG	0.438																																						ENST00000371117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.R3913R(1)	lung(1)	304						c.(11737-11739)cgC>cgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							286.0	273.0	277.0					6																	51491841		2203	4300	6503	SO:0001819	synonymous_variant	5314	0	0					g.chr6:51491841G>A	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.11739C>T	chr6.hg19:g.51491841G>A		0						p.R3913R	NM_138694.3	NP_619639.3	0	0	0	1.973144	P08F94	PKHD1_HUMAN		66	12014	-	Lung NSC(77;0.0605)		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	1	1	hg19	c.11739C>T	CCDS4935.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_138694			128	127		626	610	1		1	0		0	0	121	0		1	6.298266e-01	0	0	0	12	0	128	626
PKHD1	5314	broad.mit.edu	37	6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2980					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)			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)					GAAAATTCTTCTCGGCTGGAC	0.443																																						ENST00000371117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				304						c.(8938-8940)Gaa>Taa		polycystic kidney and hepatic disease 1 (autosomal recessive)							84.0	86.0	85.0					6																	51618011		2203	4300	6503	SO:0001587	stop_gained	5314	0	0					g.chr6:51618011C>A	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.8938G>T	chr6.hg19:g.51618011C>A	ENSP00000360158:p.Glu2980*	0					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	p.E2980*	NM_138694.3	NP_619639.3	0	0	0	1.973144	P08F94	PKHD1_HUMAN		57	9213	-	Lung NSC(77;0.0605)		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	0	1	hg19	c.8938G>T	CCDS4935.1	1	.	.	.	.	.	.	.	.	.	.	C	50	16.920727	0.99875	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.97	5.11	0.69529	5.97	5.11	0.69529	.	0.389019	0.26855	N	0.022142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.698	0.45909	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2980	.	ENSP00000341097:E2980X	E	-	1	0	0	PKHD1	51725970	51725970	0.060000	0.20803	0.874000	0.34290	0.478000	0.33099	1.984000	0.40658	1.536000	0.49237	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1		2	2	2	0		0	0	90		90	88	1	2.060000	-20.000000	1	0.170000	NM_138694			72	71		345	340	1		1	0		0	0	90	0		1	5.392116e-01	0	0	0	10	0	72	345
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					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)			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)					GAGTTCCTCACTGTGCAGCCC	0.438																																						ENST00000371117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				304						c.(6706-6708)Gtg>Atg		polycystic kidney and hepatic disease 1 (autosomal recessive)							69.0	69.0	69.0					6																	51771115		2203	4300	6503	SO:0001583	missense	5314	0	0					g.chr6:51771115C>T	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.6706G>A	chr6.hg19:g.51771115C>T	ENSP00000360158:p.Val2236Met	0					PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	p.V2236M	NM_138694.3	NP_619639.3	0	0	0	1.973144	P08F94	PKHD1_HUMAN		41	6981	-	Lung NSC(77;0.0605)		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	1	1	hg19	c.6706G>A	CCDS4935.1	1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675254	0.47781	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92647	-3.08;-3.08	5.25	1.4	0.22301	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.89715	0.6795	M	0.77103	2.36	0.09310	N	1	D;P	0.56968	0.978;0.894	P;B	0.53593	0.73;0.437	D	0.83848	0.0261	10	0.51188	T	0.08	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	M	2236	ENSP00000360158:V2236M;ENSP00000341097:V2236M	ENSP00000341097:V2236M	V	-	1	0	0	PKHD1	51879074	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_138694			68	67		306	301	1		1	0		0	0	60	0		1	2.300380e-01	0	0	0	5	0	68	306
PKHD1	5314	broad.mit.edu	37	6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1034	IPT/TIG 5.				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)			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)					GGCCCAGAGCCCTCCTGTAAC	0.398																																						ENST00000371117.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				304						c.(3100-3102)gGg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							72.0	73.0	72.0					6																	51900516		2203	4300	6503	SO:0001583	missense	5314	0	0					g.chr6:51900516C>A	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.3101G>T	chr6.hg19:g.51900516C>A	ENSP00000360158:p.Gly1034Val	0					PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	p.G1034V	NM_138694.3	NP_619639.3	0	0	0	1.973144	P08F94	PKHD1_HUMAN		28	3376	-	Lung NSC(77;0.0605)		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	1	1	hg19	c.3101G>T	CCDS4935.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173670	0.78452	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-2.14;-2.14	5.57	5.57	0.84162	5.57	5.57	0.84162	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.157646	0.44483	D	0.000441	D	0.91392	0.7284	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91938	0.5560	10	0.72032	D	0.01	.	16.6945	0.85332	0.0:1.0:0.0:0.0	.	1034;1034	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1034	ENSP00000360158:G1034V;ENSP00000341097:G1034V	ENSP00000341097:G1034V	G	-	2	0	0	PKHD1	52008475	52008475	0.998000	0.40836	0.976000	0.42696	0.997000	0.91878	4.845000	0.62853	2.631000	0.89168	0.650000	0.86243	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.619838	1	0.170000	NM_138694			57	57		230	228	1		1	0		0	0	91	0		1	1.829096e-01	0	0	0	4	0	57	230
PKHD1	5314	broad.mit.edu	37	6	51944773	51944773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51944773G>A	ENST00000371117.3	-	5	590	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKHD1_ENST00000340994.4_Silent_p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	105	IPT/TIG 1; atypical.				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)			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)					CTTCCAGGAAGTACAGACCCT	0.483																																						ENST00000371117.3	0.580000	0.250000	4.900000e-01	3.200000e-01	0.390000	0.411624	0.390000	0.390000																										0				304						c.(313-315)taC>taT		polycystic kidney and hepatic disease 1 (autosomal recessive)							171.0	151.0	158.0					6																	51944773		2203	4300	6503	SO:0001819	synonymous_variant	5314	0	0					g.chr6:51944773G>A	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.315C>T	chr6.hg19:g.51944773G>A		0					PKHD1_ENST00000340994.4_Silent_p.Y105Y	p.Y105Y	NM_138694.3	NP_619639.3	0	0	0	1.973144	P08F94	PKHD1_HUMAN		5	590	-	Lung NSC(77;0.0605)		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	1	1	hg19	c.315C>T	CCDS4935.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	0	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-18.517680	1	0.170000	NM_138694			21	20		593	585	0		1	0		0	0	136	0		9.999971e-01	2.440250e-02	0	0	0	7	0	21	593
MCM3	4172	broad.mit.edu	37	6	52132686	52132686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52132686C>A	ENST00000229854.7	-	14	2125	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D	MCM3_ENST00000419835.2_Missense_Mutation_p.E637D|MCM3_ENST00000596288.1_Missense_Mutation_p.E728D			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	683					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)			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)					gctcctggtcctcttggcttt	0.468																																						ENST00000229854.7	1.000000	0.460000	1	6.900000e-01	0.980000	0.881956	0.980000	1.000000																										0				20						c.(2047-2049)gaG>gaT		minichromosome maintenance complex component 3							325.0	243.0	271.0					6																	52132686		2201	4300	6501	SO:0001583	missense	4172	0	0					g.chr6:52132686C>A	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.2049G>T	chr6.hg19:g.52132686C>A	ENSP00000229854:p.Glu683Asp	0					MCM3_ENST00000596288.1_Missense_Mutation_p.E728D|MCM3_ENST00000419835.2_Missense_Mutation_p.E637D	p.E683D			0	0	0	1.973144	P25205	MCM3_HUMAN		14	2125	-	Lung NSC(77;0.0931)		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	0	1	hg19	c.2049G>T		1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654578	0.29425	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.61742	0.08;0.08;0.08	4.59	2.79	0.32731	4.59	2.79	0.32731	.	1.165220	0.06123	N	0.669208	T	0.15565	0.0375	N	0.11427	0.14	0.31581	N	0.655164	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08889	-1.0700	10	0.13470	T	0.59	-11.1109	7.6055	0.28100	0.0:0.8059:0.0:0.1941	.	637;683	B4DUQ9;P25205	.;MCM3_HUMAN	D	683;180;637;178	ENSP00000229854:E683D;ENSP00000388647:E637D;ENSP00000407651:E178D	ENSP00000229854:E683D	E	-	3	2	2	MCM3	52240645	52240645	0.996000	0.38824	0.997000	0.53966	0.778000	0.44026	0.508000	0.22692	0.846000	0.35142	0.655000	0.94253	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-12.748980	1	0.170000				7	7		75	70	1		1	1		0	0	11	0		9.776505e-01	9.999732e-01	0	34	0	267	0	7	75
MCM3	4172	broad.mit.edu	37	6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000229854.7	-	9	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000596288.1_Missense_Mutation_p.R486Q|MCM3_ENST00000476448.1_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	441	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)			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)					GGCATTCAGCCGAGCATGGAT	0.517																																						ENST00000229854.7	1.000000	0.390000	1	5.600000e-01	0.780000	0.779112	0.780000	1.000000																										0				20						c.(1321-1323)cGg>cAg		minichromosome maintenance complex component 3							76.0	57.0	64.0					6																	52141118		2203	4300	6503	SO:0001583	missense	4172	1	121410	25				g.chr6:52141118C>T	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.1322G>A	chr6.hg19:g.52141118C>T	ENSP00000229854:p.Arg441Gln	0					MCM3_ENST00000596288.1_Missense_Mutation_p.R486Q|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q	p.R441Q			0	0	0	1.973144	P25205	MCM3_HUMAN		9	1398	-	Lung NSC(77;0.0931)		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	1	1	hg19	c.1322G>A		0	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025812	0.75390	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.13	5.13	0.70059	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	L	0.28740	0.885	0.80722	D	1	B;B	0.31655	0.334;0.211	B;B	0.28011	0.085;0.059	T	0.40117	-0.9580	10	0.66056	D	0.02	-13.7045	13.109	0.59263	0.0:0.9233:0.0:0.0767	.	395;441	B4DUQ9;P25205	.;MCM3_HUMAN	Q	441;395	ENSP00000229854:R441Q;ENSP00000388647:R395Q	ENSP00000229854:R441Q	R	-	2	0	0	MCM3	52249077	52249077	1.000000	0.71417	0.819000	0.32651	0.954000	0.61252	5.896000	0.69822	2.669000	0.90835	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-12.989120	1	0.170000				9	9		126	123	1		1	1		0	0	30	0		9.941499e-01	9.962475e-01	0	19	0	126	0	9	126
MCM3	4172	broad.mit.edu	37	6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000229854.7	-	3	355	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000596288.1_Missense_Mutation_p.K138N			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	93					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)			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)					CCTCATACTGCTTGGCATAGG	0.532																																						ENST00000229854.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				20						c.(277-279)aaG>aaT		minichromosome maintenance complex component 3							89.0	89.0	89.0					6																	52147572		2203	4300	6503	SO:0001583	missense	4172	0	0					g.chr6:52147572C>A	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.279G>T	chr6.hg19:g.52147572C>A	ENSP00000229854:p.Lys93Asn	0					MCM3_ENST00000596288.1_Missense_Mutation_p.K138N|MCM3_ENST00000419835.2_Missense_Mutation_p.K47N	p.K93N			0	0	0	1.973144	P25205	MCM3_HUMAN		3	355	-	Lung NSC(77;0.0931)		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	1	1	hg19	c.279G>T		1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555099	0.65425	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11821	2.74;4.17	5.59	4.73	0.59995	5.59	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.87682	2.9	0.80722	D	1	B;B	0.31989	0.35;0.224	B;B	0.34301	0.179;0.179	T	0.01440	-1.1354	10	0.42905	T	0.14	-27.4225	14.3189	0.66470	0.0:0.9287:0.0:0.0713	.	47;93	B4DUQ9;P25205	.;MCM3_HUMAN	N	93;47	ENSP00000229854:K93N;ENSP00000388647:K47N	ENSP00000229854:K93N	K	-	3	2	2	MCM3	52255531	52255531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.366000	0.46076	0.655000	0.94253	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1		16	2	2	0		0	1	61		61	60	1	2.060000	-20.000000	1	0.170000				46	46		251	246	1		1	1		0	0	61	0		9.999840e-01	9.999942e-01	0	27	0	74	0	46	251
MCM3	4172	broad.mit.edu	37	6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000229854.7	-	2	183	c.107T>C	c.(106-108)gTt>gCt	p.V36A	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000596288.1_Missense_Mutation_p.V81A			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	36					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)			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)					CAGCTCCCGAACTTTGCTCTG	0.453																																						ENST00000229854.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(106-108)gTt>gCt		minichromosome maintenance complex component 3							204.0	176.0	185.0					6																	52148176		2203	4300	6503	SO:0001583	missense	4172	0	0					g.chr6:52148176A>G	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.107T>C	chr6.hg19:g.52148176A>G	ENSP00000229854:p.Val36Ala	0					MCM3_ENST00000596288.1_Missense_Mutation_p.V81A|MCM3_ENST00000419835.2_Intron	p.V36A			0	0	0	1.973144	P25205	MCM3_HUMAN		2	183	-	Lung NSC(77;0.0931)		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	1	1	hg19	c.107T>C		1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904051	0.92035	.	.	ENSG00000112118	ENST00000229854	T	0.11821	2.74	4.9	4.9	0.64082	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.122293	0.56097	D	0.000038	T	0.20577	0.0495	M	0.88570	2.965	0.80722	D	1	P	0.45474	0.859	P	0.46208	0.507	T	0.08432	-1.0722	10	0.72032	D	0.01	-10.427	14.6754	0.68975	1.0:0.0:0.0:0.0	.	36	P25205	MCM3_HUMAN	A	36	ENSP00000229854:V36A	ENSP00000229854:V36A	V	-	2	0	0	MCM3	52256135	52256135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.051000	0.60960	0.533000	0.62120	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	0	0	1		17	6	2	1		1	1	100		100	99	1	2.060000	-20.000000	1	0.170000				76	76		397	393	1		1	1		1	0	100	0		1	9.998274e-01	0	30	0	89	0	76	397
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622																																						ENST00000442253.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										1	Substitution - Missense(1)	p.R8H(1)	lung(1)	17						c.(22-24)cGc>cAc		progestin and adipoQ receptor family member VIII							27.0	26.0	27.0					6																	52268034		2202	4298	6500	SO:0001583	missense	85315	0	0					g.chr6:52268034G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.23G>A	chr6.hg19:g.52268034G>A	ENSP00000406197:p.Arg8His	0					PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	p.R8H	NM_133367.4	NP_588608.1	0	0	0	1.973144	Q8TEZ7	MPRB_HUMAN		2	197	+	Lung NSC(77;0.0875)		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	1	1	hg19	c.23G>A	CCDS4941.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	0	PAQR8	52375993	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_133367			31	31		131	129	1		1	1		0	0	19	0		1	9.117087e-01	0	5	0	15	0	31	131
PAQR8	85315	broad.mit.edu	37	6	52268422	52268422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	137					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542																																						ENST00000442253.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(409-411)gaG>gaA		progestin and adipoQ receptor family member VIII							161.0	137.0	145.0					6																	52268422		2203	4300	6503	SO:0001819	synonymous_variant	85315	0	0					g.chr6:52268422G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.411G>A	chr6.hg19:g.52268422G>A		0					PAQR8_ENST00000360726.3_Silent_p.E137E	p.E137E	NM_133367.4	NP_588608.1	0	0	0	1.973144	Q8TEZ7	MPRB_HUMAN		2	585	+	Lung NSC(77;0.0875)		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	1	1	hg19	c.411G>A	CCDS4941.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000	NM_133367			128	125		478	473	1		1	1		0	0	129	0		1	9.999998e-01	0	29	0	55	0	128	478
PAQR8	85315	broad.mit.edu	37	6	52268953	52268953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	314					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597																																						ENST00000442253.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999714	0.990000	1.000000																										0				17						c.(940-942)cgC>cgT		progestin and adipoQ receptor family member VIII							48.0	46.0	46.0					6																	52268953		2203	4300	6503	SO:0001819	synonymous_variant	85315	0	0					g.chr6:52268953C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.942C>T	chr6.hg19:g.52268953C>T		0					PAQR8_ENST00000360726.3_Silent_p.R314R	p.R314R	NM_133367.4	NP_588608.1	0	0	0	1.973144	Q8TEZ7	MPRB_HUMAN		2	1116	+	Lung NSC(77;0.0875)		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	1	1	hg19	c.942C>T	CCDS4941.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_133367			27	27		156	155	1		1	1		0	0	32	0		1	9.997332e-01	0	23	0	55	0	27	156
EFHC1	114327	broad.mit.edu	37	6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T	rs200435907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	30						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			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)					AGAAGTCAGACGCTGAGCTAC	0.423																																						ENST00000371068.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(88-90)aCg>aTg		EF-hand domain (C-terminal) containing 1		C	MET/THR,MET/THR	0,4406		0,0,2203	79.0	77.0	78.0		32,89	6.0	1.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	11/622,30/641	52288769	1,13005	2203	4300	6503	SO:0001583	missense	114327	27	121412	46				g.chr6:52288769C>T	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.89C>T	chr6.hg19:g.52288769C>T	ENSP00000360107:p.Thr30Met	0					EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	p.T30M	NM_018100.3	NP_060570.2	0	0	0	1.973144	Q5JVL4	EFHC1_HUMAN		2	192	+	Lung NSC(77;0.109)		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	1	1	hg19	c.89C>T	CCDS4942.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976744	0.74360	0.0	1.16E-4	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.68624	-0.16;-0.34	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78432	-0.2206	10	0.37606	T	0.19	-7.9389	20.4581	0.99154	0.0:1.0:0.0:0.0	.	11;30	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	M	30;11	ENSP00000360107:T30M;ENSP00000444521:T11M	ENSP00000360107:T30M	T	+	2	0	0	EFHC1	52396728	52396728	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	6.840000	0.75369	2.835000	0.97688	0.650000	0.86243	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_018100			93	90		368	357	1		1	1		0	0	97	0		1	9.887725e-01	0	8	0	22	0	93	368
EFHC1	114327	broad.mit.edu	37	6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	438	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			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)					AGACCGCAGATTTGTCTTCTC	0.438																																						ENST00000371068.5	0.660000	0.270000	5.600000e-01	3.500000e-01	0.440000	0.461923	0.440000	0.440000																										0				27						c.(1312-1314)Ttt>Att		EF-hand domain (C-terminal) containing 1							107.0	103.0	105.0					6																	52343868		2203	4300	6503	SO:0001583	missense	114327	0	0					g.chr6:52343868T>A	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.1312T>A	chr6.hg19:g.52343868T>A	ENSP00000360107:p.Phe438Ile	0					EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	p.F438I	NM_018100.3	NP_060570.2	0	0	0	1.973144	Q5JVL4	EFHC1_HUMAN		8	1415	+	Lung NSC(77;0.109)		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	1	1	hg19	c.1312T>A	CCDS4942.1	0	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514557	0.85389	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	D;D;D	0.85629	-1.79;-1.98;-2.01	5.89	5.89	0.94794	5.89	5.89	0.94794	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.91406	3.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.94628	0.7819	10	0.87932	D	0	-4.1261	16.3071	0.82852	0.0:0.0:0.0:1.0	.	419;347;438	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	I	438;347;419	ENSP00000360107:F438I;ENSP00000416492:F347I;ENSP00000444521:F419I	ENSP00000360107:F438I	F	+	1	0	0	EFHC1	52451827	52451827	1.000000	0.71417	0.905000	0.35620	0.391000	0.30476	7.794000	0.85869	2.250000	0.74265	0.477000	0.44152	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-18.382710	1	0.170000	NM_018100			19	19		477	471	0		1	1		0	0	79	0		9.999899e-01	5.677192e-01	0	3	0	45	0	19	477
EFHC1	114327	broad.mit.edu	37	6	52354937	52354937	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1							axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			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)					TTTCTCTACAGCAAGCAAACT	0.403																																						ENST00000371068.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999888	0.990000	1.000000																										0				27						c.e10-1		EF-hand domain (C-terminal) containing 1							71.0	63.0	65.0					6																	52354937		2203	4300	6503	SO:0001630	splice_region_variant	114327	0	0					g.chr6:52354937G>T	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.1641-1G>T	chr6.hg19:g.52354937G>T		0					EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site		NM_018100.3	NP_060570.2	0	0	0	1.973144	Q5JVL4	EFHC1_HUMAN		10	1743	+	Lung NSC(77;0.109)		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Splice_Site	SNP	ENST00000371068.5	1	1	hg19		CCDS4942.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692250	0.68271	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	EFHC1	52462896	52462896	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	4.760000	0.62235	2.833000	0.97629	0.650000	0.86243	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_018100	Intron		31	30		176	175	0		1			0	0	43	0		1	0	0	0	0	0	0	31	176
GSTA2	2939	broad.mit.edu	37	6	52617718	52617718	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	116	GST C-terminal.				epithelial cell differentiation (GO:0030855)|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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398																																						ENST00000493422.1	0.630000	0.370000	5.700000e-01	4.300000e-01	0.490000	0.503322	0.490000	0.500000																										0				16						c.(346-348)gaA>gaG		glutathione S-transferase alpha 2	Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)						233.0	222.0	226.0					6																	52617718		2203	4300	6503	SO:0001819	synonymous_variant	2939	0	0					g.chr6:52617718T>C	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.348A>G	chr6.hg19:g.52617718T>C		0						p.E116E	NM_000846.4	NP_000837.3	0	0	0	1.973144	P09210	GSTA2_HUMAN		5	503	-	Lung NSC(77;0.118)		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	1	1	hg19	c.348A>G	CCDS4944.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	1	0	1		2	2	2	0		0	0	266		266	265	1	2.060000	-5.202879	1	0.170000	NM_000846			54	54		1209	1193	0		1	0		0	0	266	0		1	1.079892e-01	0	0	0	13	0	54	1209
GSTA2	2939	broad.mit.edu	37	6	52622688	52622689	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688_52622689GG>AA	ENST00000493422.1	-	2	212_213	c.57_58CC>TT	c.(55-60)atCCgg>atTTgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	20	GST N-terminal.				epithelial cell differentiation (GO:0030855)|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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCCA	0.485																																						ENST00000493422.1	1.000000	0.520000|0.990000	9.000000e-01|1	6.300000e-01|9.900000e-01	0.750000|0.990000	0.768827|1.000000	0.750000|0.990000	1.000000																										0				16						c.(58-60)Cgg>Tgg|c.(55-57)atC>atT		glutathione S-transferase alpha 2	Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)																																			SO:0001583	missense	2939	5|1	121410|121408	38|37				g.chr6:52622688G>A|g.chr6:52622689G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.57_58delinsAA	chr6.hg19:g.52622688_52622689delinsAA	ENSP00000420168:p.Arg20Trp	0						p.R20W|p.I19I	NM_000846.4	NP_000837.3	0	0	0	1.973144	P09210	GSTA2_HUMAN		2	213|212	-	Lung NSC(77;0.118)		Q12759|Q16491|Q9NTY6	Missense_Mutation|Silent	SNP	ENST00000493422.1	1	1	hg19	c.58C>T|c.57C>T	CCDS4944.1	0|1																									2.81|	2.81|	0.32909|																																												2|			52730647|														1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.485	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	1	0	1		2	2	2	0		0	0	88		89|88	88|87	1	2.060000	-2.415698|-20.000000	0|1	0.170000	NM_000846			29|77	29|75		415|365	407|359	0|1		1	0		0	0	89|88	0		1	3.910619e-01|8.841783e-01	0	0	0	20	0	29	365
GSTA5	221357	broad.mit.edu	37	6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	110	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383																																						ENST00000370989.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(328-330)Ctc>Atc		glutathione S-transferase alpha 5	Glutathione(DB00143)						201.0	192.0	195.0					6																	52699025		2203	4300	6503	SO:0001583	missense	221357	0	0					g.chr6:52699025G>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.328C>A	chr6.hg19:g.52699025G>T	ENSP00000360028:p.Leu110Ile	0					GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I	p.L110I			0	0	0	1.973144	Q7RTV2	GSTA5_HUMAN		4	357	-	Lung NSC(77;0.0912)		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	1	1	hg19	c.328C>A	CCDS4946.1	1	.	.	.	.	.	.	.	.	.	.	G	6.796	0.515794	0.12944	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.58	-2.38	0.06622	2.58	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065164	0.64402	D	0.000009	T	0.00241	0.0007	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.52906	T	0.07	.	3.5426	0.07816	0.2105:0.0:0.4597:0.3298	.	110	Q7RTV2	GSTA5_HUMAN	I	110	ENSP00000360028:L110I;ENSP00000284562:L110I	ENSP00000284562:L110I	L	-	1	0	0	GSTA5	52806984	52806984	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.157000	0.10085	-0.900000	0.03896	-1.296000	0.01341	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	1	0	1		2	2	2	0		0	0	179		179	179	1	2.060000	-20.000000	1	0.170000	NM_153699			146	144		677	669	1		1			0	0	179	0		1	0	0	0	0	0	0	146	677
GSTA5	221357	broad.mit.edu	37	6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	62	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423																																						ENST00000370989.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(184-186)Ggg>Agg		glutathione S-transferase alpha 5	Glutathione(DB00143)						131.0	130.0	130.0					6																	52701122		2203	4300	6503	SO:0001583	missense	221357	2	121412	41				g.chr6:52701122C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.184G>A	chr6.hg19:g.52701122C>T	ENSP00000360028:p.Gly62Arg	0					GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R	p.G62R			0	0	0	1.973144	Q7RTV2	GSTA5_HUMAN		3	213	-	Lung NSC(77;0.0912)		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	1	1	hg19	c.184G>A	CCDS4946.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518049	0.64634	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.20069	2.1;2.1	2.63	2.63	0.31362	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	H	0.98769	4.325	0.54753	D	0.999989	P	0.48294	0.908	P	0.52031	0.688	T	0.67639	-0.5619	10	0.66056	D	0.02	.	13.2149	0.59854	0.0:1.0:0.0:0.0	.	62	Q7RTV2	GSTA5_HUMAN	R	62	ENSP00000360028:G62R;ENSP00000284562:G62R	ENSP00000284562:G62R	G	-	1	0	0	GSTA5	52809081	52809081	1.000000	0.71417	0.993000	0.49108	0.688000	0.40055	5.269000	0.65542	1.456000	0.47831	0.205000	0.17691	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	0	0	1		16	2	2	1		1	1	198		198	197	1	2.060000	-2.107185	0	0.170000	NM_153699			155	153		734	726	1		1			1	0	198	0		1	0	0	0	0	0	0	155	734
GSTA3	2940	broad.mit.edu	37	6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	22	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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448																																						ENST00000211122.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(64-66)cTc>cGc		glutathione S-transferase alpha 3	Glutathione(DB00143)						90.0	83.0	85.0					6																	52770568		2203	4300	6503	SO:0001583	missense	2940	0	0					g.chr6:52770568A>C	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.65T>G	chr6.hg19:g.52770568A>C	ENSP00000211122:p.Leu22Arg	0					GSTA3_ENST00000370968.1_Intron	p.L22R	NM_000847.4	NP_000838.3	0	0	0	1.973144	Q16772	GSTA3_HUMAN		2	130	-	Lung NSC(77;0.0912)		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	1	1	hg19	c.65T>G	CCDS4947.1	1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790438	0.70337	.	.	ENSG00000174156	ENST00000211122	T	0.12039	2.72	3.14	3.14	0.36123	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	H	0.99726	4.73	0.48452	D	0.999655	D	0.89917	1.0	D	0.80764	0.994	T	0.70702	-0.4799	10	0.87932	D	0	.	12.0972	0.53761	1.0:0.0:0.0:0.0	.	22	Q16772	GSTA3_HUMAN	R	22	ENSP00000211122:L22R	ENSP00000211122:L22R	L	-	2	0	0	GSTA3	52878527	52878527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.688000	0.51068	0.533000	0.62120	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000				57	57		239	235	1		1			0	0	74	0		1	0	0	0	0	0	0	57	239
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000370959.1	-	6	532		c.e6-1		GSTA4_ENST00000541324.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370960.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						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)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408																																						ENST00000370959.1	1.000000	0.670000	1	8.000000e-01	0.950000	0.919745	0.950000	1.000000																										0				7						c.e6-1		glutathione S-transferase alpha 4	Glutathione(DB00143)						96.0	87.0	90.0					6																	52847504		2203	4300	6503	SO:0001630	splice_region_variant	2941	0	0					g.chr6:52847504C>T	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.415-1G>A	chr6.hg19:g.52847504C>T		0					GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site				0	0	0	1.973144	O15217	GSTA4_HUMAN		6	532	-	Lung NSC(77;0.103)		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Splice_Site	SNP	ENST00000370959.1	1	1	hg19		CCDS4948.1	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878857	0.33162	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.28	5.28	0.74379	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	GSTA4	52955463	52955463	1.000000	0.71417	0.989000	0.46669	0.113000	0.19764	5.009000	0.63998	2.906000	0.99361	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_001512	Intron		31	30		344	340	0		1	0		0	0	60	0		1	3.932682e-02	0	1	0	3	0	31	344
ICK	22858	broad.mit.edu	37	6	52895864	52895864	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000350082.5	-	5	703	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000356971.3_Splice_Site_p.H119H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.			H -> L (in Ref. 1; AAF37278). {ECO:0000305}.	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)			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)					ATCACCTACCGTGTTTGTGAA	0.368																																						ENST00000350082.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(355-357)caC>caT		intestinal cell (MAK-like) kinase							98.0	84.0	89.0					6																	52895864		2203	4300	6503	SO:0001630	splice_region_variant	22858	5	121410	39				g.chr6:52895864G>A	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.358+1C>T	chr6.hg19:g.52895864G>A		0					ICK_ENST00000356971.3_Splice_Site_p.H119H	p.H119H	NM_014920.3	NP_055735.1	0	0	0	1.973144	Q9UPZ9	ICK_HUMAN		5	703	-	Lung NSC(77;0.103)		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	SNP	ENST00000350082.5	1	0	hg19	c.357C>T	CCDS4949.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_016513	Silent		58	58		234	231	1		1	1		0	0	64	0		1	9.945481e-01	0	6	0	29	0	58	234
GCM1	8521	broad.mit.edu	37	6	52995599	52995599	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)						anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512																																						ENST00000259803.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.e5+1		glial cells missing homolog 1 (Drosophila)							275.0	225.0	242.0					6																	52995599		2203	4300	6503	SO:0001630	splice_region_variant	8521	0	0					g.chr6:52995599A>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.570+1T>C	chr6.hg19:g.52995599A>G		0							NM_003643.3	NP_003634.2	0	0	0	1.973144	Q9NP62	GCM1_HUMAN		5	782	-	Lung NSC(77;0.0755)		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Splice_Site	SNP	ENST00000259803.7	1	1	hg19		CCDS4950.1	1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912420	0.33721	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.79	5.79	0.91817	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1342	0.81471	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	GCM1	53103558	53103558	1.000000	0.71417	0.979000	0.43373	0.016000	0.09150	3.656000	0.54467	2.209000	0.71365	0.533000	0.62120	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	0		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000		Intron		63	63		291	286	1		1			0	0	59	0		1	0	0	0	0	0	0	63	291
GCM1	8521	broad.mit.edu	37	6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	166					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423																																						ENST00000259803.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(496-498)aGa>aTa		glial cells missing homolog 1 (Drosophila)							433.0	331.0	365.0					6																	52995674		2203	4300	6503	SO:0001583	missense	8521	0	0					g.chr6:52995674C>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.497G>T	chr6.hg19:g.52995674C>A	ENSP00000259803:p.Arg166Ile	0						p.R166I	NM_003643.3	NP_003634.2	0	0	0	1.973144	Q9NP62	GCM1_HUMAN		5	708	-	Lung NSC(77;0.0755)		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	1	1	hg19	c.497G>T	CCDS4950.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236308	0.79800	.	.	ENSG00000137270	ENST00000259803	T	0.77229	-1.08	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86844	0.2019	10	0.87932	D	0	-5.1915	20.4238	0.99064	0.0:1.0:0.0:0.0	.	166	Q9NP62	GCM1_HUMAN	I	166	ENSP00000259803:R166I	ENSP00000259803:R166I	R	-	2	0	0	GCM1	53103633	53103633	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	6.685000	0.74543	2.834000	0.97654	0.650000	0.86243	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	0		2	2	2	0		0	0	73		73	74	1	2.060000	-20.000000	1	0.170000				97	98		455	442	1		1			0	0	73	0		1	0	0	0	0	0	0	97	455
GCM1	8521	broad.mit.edu	37	6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	8					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413																																						ENST00000259803.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(22-24)tCt>tAt		glial cells missing homolog 1 (Drosophila)							132.0	125.0	127.0					6																	53010408		2203	4300	6503	SO:0001583	missense	8521	0	0					g.chr6:53010408G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.23C>A	chr6.hg19:g.53010408G>T	ENSP00000259803:p.Ser8Tyr	0					U3_ENST00000516121.1_RNA	p.S8Y	NM_003643.3	NP_003634.2	0	0	0	1.973144	Q9NP62	GCM1_HUMAN		2	234	-	Lung NSC(77;0.0755)		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	1	1	hg19	c.23C>A	CCDS4950.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034932	0.35893	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.21	4.32	0.51571	5.21	4.32	0.51571	.	0.394862	0.24115	N	0.041401	T	0.62405	0.2425	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58515	-0.7623	10	0.62326	D	0.03	-6.206	7.9103	0.29787	0.0811:0.0:0.7584:0.1605	.	8	Q9NP62	GCM1_HUMAN	Y	8	ENSP00000259803:S8Y	ENSP00000259803:S8Y	S	-	2	0	0	GCM1	53118367	53118367	0.443000	0.25641	0.376000	0.26042	0.789000	0.44602	2.207000	0.42788	1.138000	0.42230	0.655000	0.94253	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000				108	107		435	429	1		1			0	0	121	0		1	0	0	0	0	0	0	108	435
GCLC	2729	broad.mit.edu	37	6	53370601	53370601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	430					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TGTGTCTTACCTCCATGGGTC	0.423																																						ENST00000229416.6	0.700000	0.260000	5.800000e-01	3.500000e-01	0.450000	0.471661	0.450000	0.450000																										0				22						c.(1288-1290)gaG>gaT		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|Vitamin E(DB00163)						134.0	120.0	125.0					6																	53370601		2203	4300	6503	SO:0001630	splice_region_variant	2729	0	0					g.chr6:53370601C>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1290+1G>T	chr6.hg19:g.53370601C>A		0					RP1-27K12.4_ENST00000508884.1_RNA	p.E430D	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	0	0	0	1.973144	P48506	GSH1_HUMAN		11	1773	-	Lung NSC(77;0.0137)		Q14399	Splice_Site	SNP	ENST00000229416.6	0	1	hg19	c.1290G>T	CCDS4952.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088170|4.088170	0.76642|0.76642	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416|ENST00000514373	T|.	0.51325|.	0.71|.	5.64|5.64	5.64|5.64	0.86602|0.86602	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66247|0.66247	0.2770|0.2770	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B|.	0.31503|.	0.326|.	B|.	0.32211|.	0.142|.	T|T	0.60929|0.60929	-0.7165|-0.7165	9|5	.|.	.|.	.|.	.|.	20.0627|20.0627	0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430|.	P48506|.	GSH1_HUMAN|.	D|M	430|32	ENSP00000229416:E430D|.	.|.	E|R	-|-	3|2	2|0	2|0	GCLC|GCLC	53478560|53478560	53478560|53478560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.776000|7.776000	0.85560|0.85560	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2	0	0	1		16	2	2	0		0	1	83		83	83	1	2.060000	-2.949426	1	0.170000		Missense_Mutation		15	15		372	368	0		0	0		0	0	83	0		4.851905e-01	9.848871e-01	0	1	0	172	0	15	372
KLHL31	401265	broad.mit.edu	37	6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000407079.1	-	1	663	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	222	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348																																						ENST00000407079.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(664-666)Gat>Tat		kelch-like family member 31							79.0	79.0	79.0					6																	53519407		2203	4300	6503	SO:0001583	missense	401265	0	0					g.chr6:53519407C>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.664G>T	chr6.hg19:g.53519407C>A	ENSP00000384644:p.Asp222Tyr	0					KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y	p.D222Y			0	0	0	1.973144	Q9H511	KLH31_HUMAN		1	663	-	Lung NSC(77;0.0158)		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	1	1	hg19	c.664G>T	CCDS34478.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70282	-0.47;-0.47	6.04	6.04	0.98038	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83293	-0.0032	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	222	Q9H511	KLH31_HUMAN	Y	222	ENSP00000359942:D222Y;ENSP00000384644:D222Y	ENSP00000359942:D222Y	D	-	1	0	0	KLHL31	53627366	53627366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-3.417698	1	0.170000	NM_001003760			77	77		324	316	1		1	0		0	0	49	0		1	0	0	1	0	0	0	77	324
KLHL31	401265	broad.mit.edu	37	6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000407079.1	-	1	517	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T			Q9H511	KLH31_HUMAN	kelch-like family member 31	173	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368																																						ENST00000407079.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(517-519)aTg>aCg		kelch-like family member 31							76.0	79.0	78.0					6																	53519553		2203	4300	6503	SO:0001583	missense	401265	0	0					g.chr6:53519553A>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.518T>C	chr6.hg19:g.53519553A>G	ENSP00000384644:p.Met173Thr	0					KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T	p.M173T			0	0	0	1.973144	Q9H511	KLH31_HUMAN		1	517	-	Lung NSC(77;0.0158)		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	1	1	hg19	c.518T>C	CCDS34478.1	1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590830	0.28357	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68624	-0.34;-0.34	6.03	4.87	0.63330	6.03	4.87	0.63330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.53688	D	0.999978	B	0.18461	0.028	B	0.18263	0.021	T	0.52711	-0.8539	10	0.62326	D	0.03	.	12.1727	0.54167	0.9336:0.0:0.0664:0.0	.	173	Q9H511	KLH31_HUMAN	T	173	ENSP00000359942:M173T;ENSP00000384644:M173T	ENSP00000359942:M173T	M	-	2	0	0	KLHL31	53627512	53627512	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.522000	0.81844	1.100000	0.41517	0.454000	0.30748	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_001003760			82	82		320	314	1		1			0	0	61	0		1	0	0	0	0	0	0	82	320
TINAG	27283	broad.mit.edu	37	6	54173411	54173411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000370864.3_Silent_p.K3K|TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	21					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)			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)			GGATGGAGAAGCAGTATTTAT	0.403																																						ENST00000259782.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				34						c.(61-63)aaG>aaA		tubulointerstitial nephritis antigen							76.0	73.0	74.0					6																	54173411		2203	4300	6503	SO:0001819	synonymous_variant	27283	0	0					g.chr6:54173411G>A	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.63G>A	chr6.hg19:g.54173411G>A		0					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000370864.3_Silent_p.K3K	p.K21K	NM_014464.3	NP_055279.3	0	0	0	1.973144	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)	1	159	+	Lung NSC(77;0.0518)		Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	1	1	hg19	c.63G>A	CCDS4955.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_014464			56	54		338	331	0		1	1		0	0	75	0		1	8.848135e-01	0	17	0	8	0	56	338
TINAG	27283	broad.mit.edu	37	6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000370864.3_Missense_Mutation_p.E72D|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	90	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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)			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)			GTGACAGAGAAAATTCTGATT	0.453																																						ENST00000259782.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(268-270)gaA>gaC		tubulointerstitial nephritis antigen							197.0	187.0	191.0					6																	54173618		2203	4300	6503	SO:0001583	missense	27283	0	0					g.chr6:54173618A>C	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.270A>C	chr6.hg19:g.54173618A>C	ENSP00000259782:p.Glu90Asp	0					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D	p.E90D	NM_014464.3	NP_055279.3	0	0	0	1.973144	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)	1	366	+	Lung NSC(77;0.0518)		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	1	1	hg19	c.270A>C	CCDS4955.1	1	.	.	.	.	.	.	.	.	.	.	A	7.050	0.564316	0.13498	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.41758	0.99;0.99;0.99	5.09	1.03	0.20045	5.09	1.03	0.20045	Somatomedin B domain (4);	0.300007	0.29185	N	0.012887	T	0.06416	0.0165	N	0.19112	0.55	0.23391	N	0.997775	B;B	0.09022	0.001;0.002	B;B	0.16289	0.011;0.015	T	0.40534	-0.9558	10	0.07175	T	0.84	.	5.8169	0.18497	0.4518:0.4473:0.1009:0.0	.	90;90	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	86;90;90;72	ENSP00000359906:E86D;ENSP00000259782:E90D;ENSP00000359901:E72D	ENSP00000259782:E90D	E	+	3	2	2	TINAG	54281577	54281577	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.602000	0.24134	-0.085000	0.12573	0.402000	0.26972	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_014464			112	110		477	463	1		1	1		0	0	143	0		1	9.779066e-01	0	8	0	20	0	112	477
TINAG	27283	broad.mit.edu	37	6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					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)			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)			AGAAAAATATCGAAAGCTTCA	0.318																																						ENST00000259782.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1216-1218)Cga>Tga		tubulointerstitial nephritis antigen							70.0	69.0	69.0					6																	54219400		2202	4298	6500	SO:0001587	stop_gained	27283	2	121276	35				g.chr6:54219400C>T	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.1216C>T	chr6.hg19:g.54219400C>T	ENSP00000259782:p.Arg406*	0						p.R406*	NM_014464.3	NP_055279.3	0	0	0	1.973144	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)	9	1312	+	Lung NSC(77;0.0518)		Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	0	1	hg19	c.1216C>T	CCDS4955.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.097332	0.98063	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.54	2.25	0.28309	5.54	2.25	0.28309	.	0.986368	0.08253	N	0.974253	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.4987:0.5013:0.0:0.0	.	.	.	.	X	265;406;85	.	ENSP00000259782:R406X	R	+	1	2	2	TINAG	54327359	54327359	0.865000	0.29922	0.033000	0.17914	0.653000	0.38743	1.940000	0.40223	0.616000	0.30141	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.622324	1	0.170000	NM_014464			61	60		237	232	1		1	0		0	0	39	0		1	8.660612e-01	0	1	0	15	0	61	237
FAM83B	222584	broad.mit.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(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)					CTCACTACAAGGAATGGTATC	0.423																																						ENST00000306858.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.K25N(1)	kidney(1)	71						c.(73-75)aaG>aaT		family with sequence similarity 83, member B							142.0	128.0	133.0					6																	54735119		2203	4300	6503	SO:0001583	missense	222584	0	0					g.chr6:54735119G>T	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.75G>T	chr6.hg19:g.54735119G>T	ENSP00000304078:p.Lys25Asn	0						p.K25N	NM_001010872.1	NP_001010872.1	0	0	0	1.973144	Q5T0W9	FA83B_HUMAN		2	191	+	Lung NSC(77;0.0178)|Renal(3;0.122)		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	1	1	hg19	c.75G>T	CCDS34479.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035781	0.54896	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	2	FAM83B	54843078	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-3.758941	1	0.170000	XM_294139			123	120		450	440	1		1	1		0	0	125	0		1	9.054306e-01	0	8	0	9	0	123	450
FAM83B	222584	broad.mit.edu	37	6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	419										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)					TTGGAAAAAGCCATCTGATAG	0.488																																						ENST00000306858.7	0.780000	0.310000	6.500000e-01	4.000000e-01	0.510000	0.534652	0.510000	0.510000																										0				71						c.(1255-1257)Cca>Tca		family with sequence similarity 83, member B							73.0	76.0	75.0					6																	54805024		2203	4300	6503	SO:0001583	missense	222584	0	0					g.chr6:54805024C>T	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.1255C>T	chr6.hg19:g.54805024C>T	ENSP00000304078:p.Pro419Ser	0					RP3-523K23.2_ENST00000562834.1_RNA	p.P419S	NM_001010872.1	NP_001010872.1	0	0	0	1.973144	Q5T0W9	FA83B_HUMAN		5	1371	+	Lung NSC(77;0.0178)|Renal(3;0.122)		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	1	1	hg19	c.1255C>T	CCDS34479.1	0	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674902	0.29783	.	.	ENSG00000168143	ENST00000306858	T	0.07800	3.16	5.47	3.64	0.41730	5.47	3.64	0.41730	.	0.224693	0.40302	N	0.001133	T	0.04998	0.0134	M	0.72118	2.19	0.39476	D	0.967804	B	0.21071	0.051	B	0.14578	0.011	T	0.05784	-1.0864	10	0.72032	D	0.01	-14.0648	10.2045	0.43105	0.1371:0.7924:0.0:0.0705	.	419	Q5T0W9	FA83B_HUMAN	S	419	ENSP00000304078:P419S	ENSP00000304078:P419S	P	+	1	0	0	FAM83B	54912983	54912983	0.998000	0.40836	0.213000	0.23690	0.134000	0.20937	1.064000	0.30579	0.752000	0.32923	0.591000	0.81541	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-4.571370	1	0.170000	XM_294139			17	17		367	363	0		1	1		0	0	71	0		9.999636e-01	2.389131e-01	0	2	0	18	0	17	367
FAM83B	222584	broad.mit.edu	37	6	54805335	54805335	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	522										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)					GATTTGAGGGCTATGATAATC	0.408																																						ENST00000306858.7	0.650000	0.240000	5.400000e-01	3.200000e-01	0.420000	0.438326	0.420000	0.410000																										0				71						c.(1564-1566)ggC>ggA		family with sequence similarity 83, member B							106.0	107.0	107.0					6																	54805335		2203	4300	6503	SO:0001819	synonymous_variant	222584	0	0					g.chr6:54805335C>A	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.1566C>A	chr6.hg19:g.54805335C>A		0					RP3-523K23.2_ENST00000562834.1_RNA	p.G522G	NM_001010872.1	NP_001010872.1	0	0	0	1.973144	Q5T0W9	FA83B_HUMAN		5	1682	+	Lung NSC(77;0.0178)|Renal(3;0.122)		Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	1	1	hg19	c.1566C>A	CCDS34479.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	0	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.318794	1	0.170000	XM_294139			15	15		402	401	0		1	0		0	0	82	0		9.998748e-01	3.969363e-01	0	1	0	35	0	15	402
HCRTR2	3062	broad.mit.edu	37	6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					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)			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)			TCTGGTGACATACATGGCACC	0.373																																						ENST00000370862.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(694-696)Tac>Cac		hypocretin (orexin) receptor 2							142.0	117.0	125.0					6																	55128552		2203	4300	6503	SO:0001583	missense	3062	0	0					g.chr6:55128552T>C	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.694T>C	chr6.hg19:g.55128552T>C	ENSP00000359899:p.Tyr232His	0						p.Y232H	NM_001526.3	NP_001517.2	0	0	0	1.973144	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)	4	1030	+	Lung NSC(77;0.107)|Renal(3;0.122)		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	1	1	hg19	c.694T>C	CCDS4956.1	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608309	0.87258	.	.	ENSG00000137252	ENST00000370862	T	0.72505	-0.66	5.75	5.75	0.90469	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92202	0.5769	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	232;232	Q548Y0;O43614	.;OX2R_HUMAN	H	232	ENSP00000359899:Y232H	ENSP00000359899:Y232H	Y	+	1	0	0	HCRTR2	55236511	55236511	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				37	37		138	135	1		1			0	0	30	0		1	0	0	0	0	0	0	37	138
GFRAL	389400	broad.mit.edu	37	6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	211					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)				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)			AAGACATGTGCAGTGAACATG	0.428																																						ENST00000340465.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(631-633)gCa>gTa		GDNF family receptor alpha like							108.0	106.0	107.0					6																	55216312		2203	4300	6503	SO:0001583	missense	389400	0	0					g.chr6:55216312C>T	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.632C>T	chr6.hg19:g.55216312C>T	ENSP00000343636:p.Ala211Val	0						p.A211V	NM_207410.2	NP_997293.2	0	0	0	1.973144	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)	5	718	+	Lung NSC(77;0.0875)|Renal(3;0.122)		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	1	1	hg19	c.632C>T	CCDS4957.1	1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120224	0.56613	.	.	ENSG00000187871	ENST00000340465	T	0.42513	0.97	6.05	5.19	0.71726	6.05	5.19	0.71726	.	0.062950	0.64402	D	0.000005	T	0.30947	0.0781	L	0.59436	1.845	0.39501	D	0.968204	P	0.43314	0.803	B	0.40702	0.338	T	0.31724	-0.9933	10	0.87932	D	0	-5.4052	15.1396	0.72601	0.0:0.9328:0.0:0.0672	.	211	Q6UXV0	GFRAL_HUMAN	V	211	ENSP00000343636:A211V	ENSP00000343636:A211V	A	+	2	0	0	GFRAL	55324271	55324271	0.997000	0.39634	0.897000	0.35233	0.739000	0.42172	3.913000	0.56394	1.566000	0.49654	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	1	0	1		2	2	2	0		0	0	94		94	91	1	2.060000	-20.000000	1	0.170000	NM_207410			90	88		403	397	1		1			0	0	94	0		1	0	0	0	0	0	0	90	403
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000274901.4_Silent_p.G280G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310					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)			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)			CATAAGGGCAGCCACCTAATC	0.423																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(928-930)ggC>ggT		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							103.0	97.0	99.0					6																	55304313		1875	4107	5982	SO:0001819	synonymous_variant	54511	0	0					g.chr6:55304313G>A	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.930C>T	chr6.hg19:g.55304313G>A		0					HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000507223.1_5'UTR	p.G310G	NM_019036.2	NP_061909.2	0	0	0	1.973144	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)	9	1061	-	Lung NSC(77;0.0875)		B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	1	1	hg19	c.930C>T	CCDS43475.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	0	0	0		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	XM_166383			68	67		327	321	1		1	0		0	0	98	0		1	2.100143e-01	0	0	0	5	0	68	327
BMP5	653	broad.mit.edu	37	6	55623887	55623887	+	Silent	SNP	G	G	A	rs184900087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	377					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)			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)			AAAATGCAGCGTATCCTTCTG	0.343													G|||	11	0.00219649	0.0	0.0144	5008	,	,		10671	0.0		0.001	False		,,,				2504	0.0					ENST00000370830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1129-1131)taC>taT		bone morphogenetic protein 5							151.0	138.0	143.0					6																	55623887		2203	4300	6503	SO:0001819	synonymous_variant	653	236	121408	55				g.chr6:55623887G>A		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.1131C>T	chr6.hg19:g.55623887G>A		0					BMP5_ENST00000446683.2_Intron	p.Y377Y	NM_021073.2	NP_066551.1	0	0	0	1.973144	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)	6	1829	-	Lung NSC(77;0.0462)		B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	1	0	hg19	c.1131C>T	CCDS4958.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.202493	1	0.170000				83	81		355	324	0		1	0		0	0	70	0		1	2.447512e-01	0	0	0	5	0	83	355
BMP5	653	broad.mit.edu	37	6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	22					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)			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)			TGCATAACCCACTAGAACCCA	0.388																																						ENST00000370830.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(64-66)gTg>gCg		bone morphogenetic protein 5							145.0	159.0	155.0					6																	55739599		2203	4300	6503	SO:0001583	missense	653	0	0					g.chr6:55739599A>G		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.65T>C	chr6.hg19:g.55739599A>G	ENSP00000359866:p.Val22Ala	0					BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	p.V22A	NM_021073.2	NP_066551.1	0	0	0	1.973144	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)	1	763	-	Lung NSC(77;0.0462)		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	1	1	hg19	c.65T>C	CCDS4958.1	1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599136	0.28534	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71698	-0.59;-0.21	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.153821	0.43110	D	0.000608	T	0.24967	0.0606	N	0.02539	-0.55	0.46586	D	0.999113	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.31696	-0.9934	10	0.07990	T	0.79	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	22;22	B4E0Y4;P22003	.;BMP5_HUMAN	A	22	ENSP00000359866:V22A;ENSP00000391818:V22A	ENSP00000359866:V22A	V	-	2	0	0	BMP5	55847558	55847558	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.979000	0.70508	2.172000	0.68678	0.533000	0.62120	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1	0	0	1		18	2	2	1		1	1	227		227	225	1	2.060000	-20.000000	1	0.170000				201	193		954	931	1		1	0		1	0	227	0		1	3.050043e-02	0	0	0	2	0	201	954
COL21A1	81578	broad.mit.edu	37	6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			TAGTTTGGTCCTTTTCTGAAC	0.473																																						ENST00000244728.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				41						c.(2860-2862)Gga>Tga		collagen, type XXI, alpha 1							86.0	81.0	82.0					6																	55922469		1910	4132	6042	SO:0001587	stop_gained	81578	0	0					g.chr6:55922469C>A	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.2860G>T	chr6.hg19:g.55922469C>A	ENSP00000244728:p.Gly954*	0					COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*	p.G954*	NM_030820.3	NP_110447.2	0	0	0	1.973144	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)	30	3257	-	Lung NSC(77;0.0483)		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	0	1	hg19	c.2860G>T	CCDS55025.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.607457	0.98387	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.44055	D	0.996794	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8313	0.88683	0.0:1.0:0.0:0.0	.	.	.	.	X	954;951;954;951;320	.	ENSP00000244728:G954X	G	-	1	0	0	COL21A1	56030428	56030428	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.794000	0.75135	2.275000	0.75901	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.650546	1	0.170000				27	27		108	107	1		1	0		0	0	23	0		1	4.294933e-02	0	0	0	2	0	27	108
COL21A1	81578	broad.mit.edu	37	6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	275	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)				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)			GGAAGACCTTCTGGGAAAACA	0.348																																						ENST00000244728.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				41						c.(823-825)Gaa>Aaa		collagen, type XXI, alpha 1							72.0	62.0	65.0					6																	56035650		1819	4075	5894	SO:0001583	missense	81578	0	0					g.chr6:56035650C>T	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.823G>A	chr6.hg19:g.56035650C>T	ENSP00000244728:p.Glu275Lys	0					COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	p.E275K	NM_030820.3	NP_110447.2	0	0	0	1.973144	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)	5	1220	-	Lung NSC(77;0.0483)		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	1	1	hg19	c.823G>A	CCDS55025.1	1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923244	0.73213	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.15603	2.41;2.41;2.41	4.66	4.66	0.58398	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	U	0.000071	T	0.25306	0.0615	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.03221	-1.1059	10	0.16896	T	0.51	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	275;275	Q96P44-3;Q96P44	.;COLA1_HUMAN	K	275	ENSP00000244728:E275K;ENSP00000359855:E275K;ENSP00000444384:E275K	ENSP00000244728:E275K	E	-	1	0	0	COL21A1	56143609	56143609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.126000	0.65437	0.591000	0.81541	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				19	19		55	54	1		1	0		0	0	19	0		9.999963e-01	6.993007e-02	0	0	0	2	0	19	55
COL21A1	81578	broad.mit.edu	37	6	56035927	56035927	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			CAGACAGATTCTATAAAGCAA	0.303																																						ENST00000244728.5	0.820000	0.260000	6.600000e-01	3.700000e-01	0.500000	0.523439	0.500000	0.490000																										0				41						c.e4-1		collagen, type XXI, alpha 1							78.0	70.0	73.0					6																	56035927		1821	4071	5892	SO:0001630	splice_region_variant	81578	0	0					g.chr6:56035927C>A	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.641-1G>T	chr6.hg19:g.56035927C>A		0					COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site		NM_030820.3	NP_110447.2	0	0	0	1.973144	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)	4	1038	-	Lung NSC(77;0.0483)		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	1	1	hg19		CCDS55025.1	0	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.57	4.57	0.56435	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	COL21A1	56143886	56143886	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.235000	0.78143	2.084000	0.62774	0.585000	0.79938	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	0	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.103377	1	0.170000		Intron		11	10		248	243	0		1			0	0	70	0		9.982157e-01	0	0	0	0	0	0	11	248
DST	667	broad.mit.edu	37	6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A	rs201429821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000361203.3	-	96	21963	c.21956C>T	c.(21955-21957)gCg>gTg	p.A7319V	DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V			Q03001	DYST_HUMAN	dystonin	7428	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				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)			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)			GGCCGCCTGCGCAGCCTGACT	0.587													G|||	5	0.000998403	0.0	0.0	5008	,	,		17762	0.0		0.005	False		,,,				2504	0.0					ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(21955-21957)gCg>gTg		dystonin		G	VAL/ALA	1,4025		0,1,2012	55.0	64.0	61.0		14975	0.6	0.0	6		61	13,8311		0,13,4149	yes	missense	DST	NM_015548.4	64	0,14,6161	AA,AG,GG		0.1562,0.0248,0.1134	benign	4992/5172	56328406	14,12336	2013	4162	6175	SO:0001583	missense	667	307	120966	56				g.chr6:56328406G>A	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.21956C>T	chr6.hg19:g.56328406G>A	ENSP00000354508:p.Ala7319Val	0					DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V|DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000370769.4_Missense_Mutation_p.A7430V	p.A7319V			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	96	21963	-	Lung NSC(77;0.103)		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	1	0	hg19	c.21956C>T		1	4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	2.123|2.123	-0.400962|-0.400962	0.04865|0.04865	2.48E-4|2.48E-4	0.001562|0.001562	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.62105|.	1.13;0.05;0.05;0.13;1.01;0.1;0.06|.	5.73|5.73	0.582|0.582	0.17412|0.17412	5.73|5.73	0.582|0.582	0.17412|0.17412	.|.	0.489613|.	0.18730|.	N|.	0.132777|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.03608|0.03608	-0.345|-0.345	0.23589|.	N|.	0.997341|.	B;B;B;B;B;B;B;B|.	0.16166|.	0.0;0.01;0.002;0.0;0.003;0.002;0.0;0.016|.	B;B;B;B;B;B;B;B|.	0.13407|.	0.001;0.0;0.001;0.001;0.009;0.001;0.002;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|4	0.23891|.	T|.	0.37|.	.|.	13.3256|13.3256	0.60457|0.60457	0.2087:0.2518:0.5395:0.0|0.2087:0.2518:0.5395:0.0	.|.	5315;7430;7608;7428;4992;116;79;5233|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	V|C	4992;7608;7430;5315;7104;5233;7319|117	ENSP00000244364:A4992V;ENSP00000359790:A7608V;ENSP00000359805:A7430V;ENSP00000400883:A5315V;ENSP00000393645:A7104V;ENSP00000359824:A5233V;ENSP00000354508:A7319V|.	ENSP00000244364:A4992V|.	A|R	-|-	2|1	0|0	0|0	DST|DST	56436365|56436365	56436365|56436365	0.014000|0.014000	0.17966|0.17966	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	0.391000|0.391000	0.20784|0.20784	-0.186000|-0.186000	0.10533|0.10533	-0.165000|-0.165000	0.13383|0.13383	GCG|CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.164747	1	0.170000	NM_001723			80	78		354	350	1		1	1		0	0	73	0		1	1	0	56	0	142	0	80	354
DST	667	broad.mit.edu	37	6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000361203.3	-	86	20666	c.20659G>A	c.(20659-20661)Gac>Aac	p.D6887N	DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N			Q03001	DYST_HUMAN	dystonin	6888					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)			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)			GTGATGGAGTCGGGGTGGCAG	0.458																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(20659-20661)Gac>Aac		dystonin							171.0	178.0	176.0					6																	56342199		1950	4159	6109	SO:0001583	missense	667	0	0					g.chr6:56342199C>T	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.20659G>A	chr6.hg19:g.56342199C>T	ENSP00000354508:p.Asp6887Asn	0					DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370769.4_Missense_Mutation_p.D6998N	p.D6887N			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	86	20666	-	Lung NSC(77;0.103)		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	1	1	hg19	c.20659G>A		1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907843	0.92107	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52983	0.64;1.08;1.08;0.64;1.08;1.08;1.08	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.53938	D	0.000059	T	0.69655	0.3135	M	0.84846	2.72	0.32497	N	0.5393319999999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.999;1.0;0.999;0.999;0.892	T	0.71189	-0.4666	9	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	4910;6998;7176;6996;4584	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4584;7176;6998;4910;6672;4801;6887	ENSP00000244364:D4584N;ENSP00000359790:D7176N;ENSP00000359805:D6998N;ENSP00000400883:D4910N;ENSP00000393645:D6672N;ENSP00000359824:D4801N;ENSP00000354508:D6887N	ENSP00000244364:D4584N	D	-	1	0	0	DST	56450158	56450158	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.390672	1	0.170000	NM_001723			77	73		352	345	1		1	1		0	0	85	0		1	1	0	53	0	183	0	77	352
DST	667	broad.mit.edu	37	6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000244364.6	-	47	9931	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W	DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000340834.4_5'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5654					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)			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)			caaaataCCCGAAGTTCAGAC	0.348																																						ENST00000244364.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				105						c.(9724-9726)Cgg>Tgg		dystonin							38.0	35.0	36.0					6																	56394248		1841	4102	5943	SO:0001583	missense	667	1	120716	22				g.chr6:56394248G>A	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	ENST00000244364.6:c.9724C>T	chr6.hg19:g.56394248G>A	ENSP00000244364:p.Arg3242Trp	0					DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W	p.R3242W	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	47	9931	-	Lung NSC(77;0.103)		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	ENST00000244364.6	0	1	hg19	c.9724C>T	CCDS47443.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461646	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.62788	1.25;-0.0;0.0;1.25;1.25	5.9	5.01	0.66863	5.9	5.01	0.66863	.	0.182958	0.26122	N	0.026212	T	0.44932	0.1317	L	0.36672	1.1	0.27764	N	0.943715	D;B;B;B;B	0.65815	0.995;0.282;0.282;0.004;0.085	B;B;B;B;B	0.44315	0.446;0.018;0.018;0.002;0.013	T	0.55192	-0.8179	9	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.0:0.8605:0.1395	.	3568;5656;5834;5654;3242	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	3242;5834;5656;3568;5330	ENSP00000244364:R3242W;ENSP00000359790:R5834W;ENSP00000359805:R5656W;ENSP00000400883:R3568W;ENSP00000393645:R5330W	ENSP00000244364:R3242W	R	-	1	2	2	DST	56502207	56502207	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.071000	0.64382	1.444000	0.47605	0.650000	0.86243	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	0	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_001723			27	26		134	130	1		1	1		0	0	30	0		1	9.999881e-01	0	31	0	64	0	27	134
DST	667	broad.mit.edu	37	6	56417657	56417657	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000361203.3	-	57	15307	c.15300C>T	c.(15298-15300)taC>taT	p.Y5100Y	DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000370754.5_Silent_p.Y5280Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000244364.6_Silent_p.Y2688Y			Q03001	DYST_HUMAN	dystonin	5100					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)			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)			ACATGGTCAGGTATTTGTTAC	0.453																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(15298-15300)taC>taT		dystonin							148.0	139.0	142.0					6																	56417657		1912	4151	6063	SO:0001819	synonymous_variant	667	1	120874	38				g.chr6:56417657G>A	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.15300C>T	chr6.hg19:g.56417657G>A		0					DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000370754.5_Silent_p.Y5280Y|DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000370769.4_Silent_p.Y5102Y	p.Y5100Y			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	57	15307	-	Lung NSC(77;0.103)		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	1	1	hg19	c.15300C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_001723			123	119		514	501	0		1	1		0	0	121	0		1	1	0	35	0	75	0	123	514
DST	667	broad.mit.edu	37	6	56468647	56468647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56468647G>T	ENST00000361203.3	-	36	10153	c.10146C>A	c.(10144-10146)agC>agA	p.S3382R	DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3560R|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3382					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)			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)			GTTCGGTTGAGCTATCTCCAG	0.383																																						ENST00000361203.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997067	0.990000	1.000000																										0				105						c.(10144-10146)agC>agA		dystonin							61.0	58.0	59.0					6																	56468647		1865	4103	5968	SO:0001583	missense	667	0	0					g.chr6:56468647G>T	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.10146C>A	chr6.hg19:g.56468647G>T	ENSP00000354508:p.Ser3382Arg	0					DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3560R|DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S3382R	p.S3382R			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	36	10153	-	Lung NSC(77;0.103)		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	1	1	hg19	c.10146C>A		1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469648	0.26423	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81739	-0.05;-0.05;0.9;-1.53;-0.08;-0.59	5.63	1.12	0.20585	5.63	1.12	0.20585	.	0.727216	0.12485	N	0.464726	T	0.38321	0.1036	.	.	.	0.34183	D	0.671197	B	0.12630	0.006	B	0.10450	0.005	T	0.02574	-1.1139	8	0.10636	T	0.68	.	5.8097	0.18460	0.3137:0.1434:0.5429:0.0	.	3056	Q03001-9	.	R	3560;3382;3056;3382;3382;3056	ENSP00000359790:S3560R;ENSP00000359805:S3382R;ENSP00000393645:S3056R;ENSP00000307959:S3382R;ENSP00000354508:S3382R;ENSP00000404924:S3056R	ENSP00000307959:S3382R	S	-	3	2	2	DST	56576606	56576606	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.001000	0.12947	0.278000	0.22164	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_001723			16	16		95	93	1		1	1		0	0	22	0		9.999494e-01	8.959375e-01	0	5	0	21	0	16	95
DST	667	broad.mit.edu	37	6	56472155	56472155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472155C>A	ENST00000361203.3	-	36	6645	c.6638G>T	c.(6637-6639)aGg>aTg	p.R2213M	DST_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2391M|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000370769.4_Missense_Mutation_p.R2213M|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2213					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)			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)			AGGTGAATCCCTGTTTGTATT	0.348																																						ENST00000361203.3	0.640000	0.150000	5.000000e-01	2.400000e-01	0.350000	0.375904	0.350000	0.330000																										0				105						c.(6637-6639)aGg>aTg		dystonin							76.0	71.0	73.0					6																	56472155		1864	4087	5951	SO:0001583	missense	667	0	0					g.chr6:56472155C>A	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.6638G>T	chr6.hg19:g.56472155C>A	ENSP00000354508:p.Arg2213Met	0					DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2391M|DST_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R2213M	p.R2213M			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	36	6645	-	Lung NSC(77;0.103)		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	0	1	hg19	c.6638G>T		0	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054911	0.36277	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81996	-0.07;-0.07;0.88;-1.56;-0.09;-0.35	5.38	-3.95	0.04118	5.38	-3.95	0.04118	.	0.998767	0.08101	N	0.997755	T	0.62780	0.2456	.	.	.	0.24542	N	0.994065	P	0.45827	0.867	P	0.44946	0.465	T	0.57423	-0.7814	8	0.72032	D	0.01	.	3.907	0.09186	0.1311:0.479:0.1341:0.2558	.	1887	Q03001-9	.	M	2391;2213;1887;2213;2213;1887	ENSP00000359790:R2391M;ENSP00000359805:R2213M;ENSP00000393645:R1887M;ENSP00000307959:R2213M;ENSP00000354508:R2213M;ENSP00000404924:R1887M	ENSP00000307959:R2213M	R	-	2	0	0	DST	56580114	56580114	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.849000	0.04322	-0.569000	0.06030	-0.251000	0.11542	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-2.847374	1	0.170000	NM_001723			7	7		233	227	0		1	0		0	0	29	0		9.792486e-01	4.436790e-02	0	0	0	10	0	7	233
DST	667	broad.mit.edu	37	6	56472399	56472399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472399G>A	ENST00000361203.3	-	36	6401	c.6394C>T	c.(6394-6396)Ctc>Ttc	p.L2132F	DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.L2310F|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2132					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)			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)			TATGATATGAGACTGGGAACA	0.363																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998512	0.990000	1.000000																										0				105						c.(6394-6396)Ctc>Ttc		dystonin							76.0	68.0	70.0					6																	56472399		1880	4124	6004	SO:0001583	missense	667	0	0					g.chr6:56472399G>A	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.6394C>T	chr6.hg19:g.56472399G>A	ENSP00000354508:p.Leu2132Phe	0					DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.L2310F|DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L2132F	p.L2132F			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	36	6401	-	Lung NSC(77;0.103)		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	1	1	hg19	c.6394C>T		1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238030	0.22711	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80824	0.06;0.06;1.02;-1.42;0.05;-0.2	4.52	-0.0795	0.13710	4.52	-0.0795	0.13710	.	0.798511	0.10832	N	0.629213	T	0.45115	0.1326	.	.	.	0.23336	N	0.997883	B	0.22604	0.072	B	0.12156	0.007	T	0.05599	-1.0875	8	0.35671	T	0.21	.	3.7409	0.08530	0.2912:0.4129:0.296:0.0	.	1806	Q03001-9	.	F	2310;2132;1806;2132;2132;1806	ENSP00000359790:L2310F;ENSP00000359805:L2132F;ENSP00000393645:L1806F;ENSP00000307959:L2132F;ENSP00000354508:L2132F;ENSP00000404924:L1806F	ENSP00000307959:L2132F	L	-	1	0	0	DST	56580358	56580358	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.149000	0.10204	0.158000	0.19367	0.563000	0.77884	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_001723			16	16		85	85	1		1	1		0	0	35	0		9.999588e-01	3.256941e-01	0	4	0	3	0	16	85
DST	667	broad.mit.edu	37	6	56473301	56473301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473301C>T	ENST00000361203.3	-	36	5499	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2009H|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1831					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)			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)			TACAGTTAAACGCTTGGCAGG	0.488																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999901	0.990000	1.000000																										0				105						c.(5491-5493)cGt>cAt		dystonin							61.0	61.0	61.0					6																	56473301		1911	4127	6038	SO:0001583	missense	667	1	120828	29				g.chr6:56473301C>T	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.5492G>A	chr6.hg19:g.56473301C>T	ENSP00000354508:p.Arg1831His	0					DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2009H|DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1831H	p.R1831H			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	36	5499	-	Lung NSC(77;0.103)		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	1	1	hg19	c.5492G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166951	0.57476	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000064	T	0.65037	0.2653	.	.	.	0.34191	D	0.672011	P	0.43607	0.812	B	0.41440	0.357	T	0.74352	-0.3693	8	0.87932	D	0	.	12.1534	0.54062	0.0:0.9201:0.0:0.0799	.	1505	Q03001-9	.	H	2009;1831;1505;1831;1831;1505	ENSP00000359790:R2009H;ENSP00000359805:R1831H;ENSP00000393645:R1505H;ENSP00000307959:R1831H;ENSP00000354508:R1831H;ENSP00000404924:R1505H	ENSP00000307959:R1831H	R	-	2	0	0	DST	56581260	56581260	0.996000	0.38824	0.275000	0.24674	0.979000	0.70002	3.817000	0.55668	2.584000	0.87258	0.455000	0.32223	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_001723			25	25		124	123	1		1	0		0	0	37	0		9.999999e-01	1.418967e-01	0	0	0	4	0	25	124
DST	667	broad.mit.edu	37	6	56483562	56483562	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56483562T>G	ENST00000370765.6	-	23	5377	c.5270A>C	c.(5269-5271)aAg>aCg	p.K1757T	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6494					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)			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)			TTTTTCCATCTTCTTCCGAAA	0.393																																						ENST00000370765.6	0.630000	0.300000	5.500000e-01	3.700000e-01	0.450000	0.466083	0.450000	0.450000																										0				105						c.(5269-5271)aAg>aCg		dystonin							106.0	110.0	109.0					6																	56483562		2203	4300	6503	SO:0001583	missense	667	0	0					g.chr6:56483562T>G	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.5270A>C	chr6.hg19:g.56483562T>G	ENSP00000359801:p.Lys1757Thr	0					DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	p.K1757T	NM_001723.5	NP_001714.1	0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	23	5377	-	Lung NSC(77;0.103)		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	1	1	hg19	c.5270A>C	CCDS4959.1	0	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507487	0.64410	.	.	ENSG00000151914	ENST00000370765	T	0.32988	1.43	5.49	5.49	0.81192	5.49	5.49	0.81192	.	.	.	.	.	T	0.37705	0.1013	.	.	.	0.18873	N	0.999988	D	0.76494	0.999	D	0.71656	0.974	T	0.12682	-1.0538	7	0.16420	T	0.52	.	15.8929	0.79315	0.0:0.0:0.0:1.0	.	1757	Q03001-3	.	T	1757	ENSP00000359801:K1757T	ENSP00000359801:K1757T	K	-	2	0	0	DST	56591521	56591521	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.954000	0.70298	2.205000	0.71048	0.528000	0.53228	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	0	0	1		2	2	2	0		0	0	154		154	152	1	2.060000	-19.999990	1	0.170000	NM_001723			28	27		688	680	0		1	0		0	0	154	0		1	9.540721e-03	0	0	0	4	0	28	688
DST	667	broad.mit.edu	37	6	56484401	56484401	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6328					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)			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)			CTTTTTCATGATTAAGAGATT	0.343																																						ENST00000370765.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(4429-4431)aaT>aaC		dystonin							94.0	95.0	94.0					6																	56484401		2203	4300	6503	SO:0001819	synonymous_variant	667	0	0					g.chr6:56484401A>G	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.4431T>C	chr6.hg19:g.56484401A>G		0					DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	p.N1477N	NM_001723.5	NP_001714.1	0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	23	4538	-	Lung NSC(77;0.103)		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	1	1	hg19	c.4431T>C	CCDS4959.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_001723			72	70		373	373	0		1	1		0	0	68	0		1	5.005994e-01	0	5	0	5	0	72	373
DST	667	broad.mit.edu	37	6	56492082	56492082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000361203.3	-	30	4016	c.4009C>T	c.(4009-4011)Ctg>Ttg	p.L1337L	DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L			Q03001	DYST_HUMAN	dystonin	1337					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)			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)			TCGGACACCAGCATCTATAAA	0.348																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(4009-4011)Ctg>Ttg		dystonin							151.0	139.0	143.0					6																	56492082		2203	4299	6502	SO:0001819	synonymous_variant	667	0	0					g.chr6:56492082G>A	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.4009C>T	chr6.hg19:g.56492082G>A		0					DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370769.4_Silent_p.L1337L	p.L1337L			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	30	4016	-	Lung NSC(77;0.103)		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	1	1	hg19	c.4009C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-20.000000	1	0.170000	NM_001723			91	90		418	414	0		1	1		0	0	124	0		1	9.992374e-01	0	20	0	31	0	91	418
DST	667	broad.mit.edu	37	6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000361203.3	-	28	3774	c.3767A>C	c.(3766-3768)gAt>gCt	p.D1256A	DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A			Q03001	DYST_HUMAN	dystonin	1256					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)			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)			CCAGTCAAAATCAAGGTCCCG	0.373																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(3766-3768)gAt>gCt		dystonin							268.0	226.0	240.0					6																	56494123		2203	4300	6503	SO:0001583	missense	667	0	0					g.chr6:56494123T>G	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.3767A>C	chr6.hg19:g.56494123T>G	ENSP00000354508:p.Asp1256Ala	0					DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A	p.D1256A			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	28	3774	-	Lung NSC(77;0.103)		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	1	1	hg19	c.3767A>C		1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868477	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000029	T	0.53562	0.1804	M	0.74258	2.255	0.30255	N	0.793703	D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.999;0.999;1.0;0.997;0.999	P;P;P;D;D;D;P;D	0.80764	0.895;0.837;0.895;0.971;0.978;0.994;0.895;0.966	T	0.60419	-0.7267	9	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	1256;1256;1434;930;930;930;1256;930	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	930;1434;1256;1256;930;1256;1256;1256;930;1296;930;930	ENSP00000244364:D930A;ENSP00000359790:D1434A;ENSP00000359805:D1256A;ENSP00000400883:D1256A;ENSP00000393645:D930A;ENSP00000307959:D1256A;ENSP00000359824:D1256A;ENSP00000354508:D1256A;ENSP00000404924:D930A;ENSP00000431030:D1296A;ENSP00000359801:D930A;ENSP00000431003:D930A	ENSP00000244364:D930A	D	-	2	0	0	DST	56602082	56602082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_001723			90	90		450	442	1		1	1		0	0	132	0		1	9.988309e-01	0	18	0	34	0	90	450
DST	667	broad.mit.edu	37	6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000361203.3	-	23	2970	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K			Q03001	DYST_HUMAN	dystonin	988					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)			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)			AGCTCGAATTCTATCAATTTC	0.378																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(2962-2964)aGa>aAa		dystonin							186.0	168.0	174.0					6																	56498955		2203	4300	6503	SO:0001583	missense	667	0	0					g.chr6:56498955C>T	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.2963G>A	chr6.hg19:g.56498955C>T	ENSP00000354508:p.Arg988Lys	0					DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370769.4_Missense_Mutation_p.R988K	p.R988K			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	23	2970	-	Lung NSC(77;0.103)		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	1	1	hg19	c.2963G>A		1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617451	0.28801	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.48	3.66	0.41972	5.48	3.66	0.41972	.	0.611371	0.14323	N	0.326849	T	0.24044	0.0582	N	0.04508	-0.205	0.25078	N	0.990944	B;B;B;B;B;B;B;B	0.27951	0.0;0.001;0.0;0.088;0.115;0.001;0.0;0.195	B;B;B;B;B;B;B;B	0.30943	0.0;0.003;0.0;0.028;0.086;0.007;0.0;0.122	T	0.12682	-1.0538	9	0.05959	T	0.93	.	5.762	0.18205	0.1075:0.5844:0.2226:0.0855	.	988;988;1166;662;662;662;988;662	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	662;1166;988;988;662;988;988;988;662;1028;662;662	ENSP00000244364:R662K;ENSP00000359790:R1166K;ENSP00000359805:R988K;ENSP00000400883:R988K;ENSP00000393645:R662K;ENSP00000307959:R988K;ENSP00000359824:R988K;ENSP00000354508:R988K;ENSP00000404924:R662K;ENSP00000431030:R1028K;ENSP00000359801:R662K;ENSP00000431003:R662K	ENSP00000244364:R662K	R	-	2	0	0	DST	56606914	56606914	0.933000	0.31639	0.996000	0.52242	0.992000	0.81027	2.772000	0.47678	1.327000	0.45338	0.585000	0.79938	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_001723			93	91		438	433	1		1	1		0	0	105	0		1	9.997547e-01	0	24	0	34	0	93	438
DST	667	broad.mit.edu	37	6	56500405	56500405	+	Silent	SNP	G	G	A	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000361203.3	-	20	2542	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D			Q03001	DYST_HUMAN	dystonin	845					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)			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)			CCTGAACAAGGTCTTCTAGCT	0.343																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				105						c.(2533-2535)gaC>gaT		dystonin							126.0	113.0	117.0					6																	56500405		2203	4300	6503	SO:0001819	synonymous_variant	667	0	0					g.chr6:56500405G>A	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.2535C>T	chr6.hg19:g.56500405G>A		0					DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370769.4_Silent_p.D845D	p.D845D			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	20	2542	-	Lung NSC(77;0.103)		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	1	1	hg19	c.2535C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001723			26	24		130	127	1		1	1		0	0	37	0		9.999999e-01	9.949409e-01	0	11	0	34	0	26	130
DST	667	broad.mit.edu	37	6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000361203.3	-	17	2130	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V			Q03001	DYST_HUMAN	dystonin	708					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)			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)			TTCATTAGTCGCACGACTTAC	0.353																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(2122-2124)gCg>gTg		dystonin							100.0	103.0	102.0					6																	56504351		2203	4300	6503	SO:0001583	missense	667	6	121410	40				g.chr6:56504351G>A	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.2123C>T	chr6.hg19:g.56504351G>A	ENSP00000354508:p.Ala708Val	0					DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370769.4_Missense_Mutation_p.A708V	p.A708V			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	17	2130	-	Lung NSC(77;0.103)		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	1	1	hg19	c.2123C>T		1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681009	0.88542	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.94650	0.35;-3.48;-3.48;0.35;-3.48;0.35;0.35;-3.48;0.35;0.35;0.35;0.35	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000081	D	0.96676	0.8915	M	0.76433	2.335	0.33387	D	0.575589	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;0.999;1.0	D;D;P;D;D;D;D;D;P;D	0.83275	0.979;0.933;0.826;0.933;0.991;0.975;0.986;0.996;0.779;0.986	D	0.94922	0.8074	9	0.33141	T	0.24	.	19.2334	0.93849	0.0:0.0:1.0:0.0	.	737;708;708;886;824;382;382;382;708;382	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	382;886;708;708;382;708;708;708;382;748;382;382	ENSP00000244364:A382V;ENSP00000359790:A886V;ENSP00000359805:A708V;ENSP00000400883:A708V;ENSP00000393645:A382V;ENSP00000307959:A708V;ENSP00000359824:A708V;ENSP00000354508:A708V;ENSP00000404924:A382V;ENSP00000431030:A748V;ENSP00000359801:A382V;ENSP00000431003:A382V	ENSP00000244364:A382V	A	-	2	0	0	DST	56612310	56612310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_001723			98	96		424	420	1		1	1		0	0	92	0		1	9.898268e-01	0	11	0	22	0	98	424
DST	667	broad.mit.edu	37	6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000361203.3	-	14	1470	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H			Q03001	DYST_HUMAN	dystonin	488					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)			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)			TGTCAGTATGCGTCCTTTGCT	0.423																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				105						c.(1462-1464)cGc>cAc		dystonin							110.0	108.0	108.0					6																	56505335		2203	4300	6503	SO:0001583	missense	667	2	121412	34				g.chr6:56505335C>T	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.1463G>A	chr6.hg19:g.56505335C>T	ENSP00000354508:p.Arg488His	0					DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370769.4_Missense_Mutation_p.R488H	p.R488H			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	14	1470	-	Lung NSC(77;0.103)		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	1	1	hg19	c.1463G>A		1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000343	0.74818	.	.	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	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.111620	0.40554	N	0.001064	D	0.87358	0.6157	N	0.11064	0.09	0.28576	N	0.910365	B;B;D;B;B;B;P;D;B;D	0.89917	0.021;0.135;1.0;0.135;0.257;0.027;0.733;0.992;0.135;0.976	B;B;D;B;B;B;B;P;B;P	0.78314	0.004;0.019;0.991;0.019;0.039;0.007;0.163;0.795;0.019;0.548	D	0.84741	0.0751	9	0.15952	T	0.53	.	13.5198	0.61561	0.0:0.9205:0.0:0.0795	.	517;488;488;666;604;162;162;162;488;162	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	H	162;666;488;488;162;488;488;488;162;528;162;162;666	ENSP00000244364:R162H;ENSP00000359790:R666H;ENSP00000359805:R488H;ENSP00000400883:R488H;ENSP00000393645:R162H;ENSP00000307959:R488H;ENSP00000359824:R488H;ENSP00000354508:R488H;ENSP00000404924:R162H;ENSP00000431030:R528H;ENSP00000359801:R162H;ENSP00000431003:R162H;ENSP00000393082:R666H	ENSP00000244364:R162H	R	-	2	0	0	DST	56613294	56613294	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.398000	0.44486	2.941000	0.99782	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-3.271489	1	0.170000	NM_001723			97	95		447	437	1		1	1		0	0	117	0		1	9.980286e-01	0	9	0	36	0	97	447
DST	667	broad.mit.edu	37	6	56516029	56516029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56516029C>A	ENST00000361203.3	-	7	602	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	DST_ENST00000370788.2_Missense_Mutation_p.D199Y|DST_ENST00000370754.5_Missense_Mutation_p.D377Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y			Q03001	DYST_HUMAN	dystonin	199	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			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)			GTATTCATATCTATCAGGTCC	0.343																																						ENST00000361203.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997676	0.990000	1.000000																										0				105						c.(595-597)Gat>Tat		dystonin							31.0	29.0	30.0					6																	56516029		1831	4075	5906	SO:0001583	missense	667	0	0					g.chr6:56516029C>A	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.595G>T	chr6.hg19:g.56516029C>A	ENSP00000354508:p.Asp199Tyr	0					DST_ENST00000370788.2_Missense_Mutation_p.D199Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000370754.5_Missense_Mutation_p.D377Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y	p.D199Y			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	7	602	-	Lung NSC(77;0.103)		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	1	1	hg19	c.595G>T		1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584457	0.65992	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.38	5.38	0.77491	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.56097	D	0.000021	D	0.98204	0.9406	.	.	.	0.39033	D	0.959982	D;D;D;D;D;D	0.89917	0.976;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.756;1.0;0.999;0.999;0.999;1.0	D	0.98713	1.0705	8	0.87932	D	0	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	228;199;199;377;315;199	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	Y	377;199;199;199;199;199;239;377	ENSP00000359790:D377Y;ENSP00000359805:D199Y;ENSP00000400883:D199Y;ENSP00000307959:D199Y;ENSP00000359824:D199Y;ENSP00000354508:D199Y;ENSP00000431030:D239Y;ENSP00000393082:D377Y	ENSP00000307959:D199Y	D	-	1	0	0	DST	56623988	56623988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.786000	0.95864	0.563000	0.77884	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.996440	1	0.170000	NM_001723			12	12		56	55	1		1	1		0	0	14	0		9.993544e-01	8.784665e-01	0	7	0	13	0	12	56
DST	667	broad.mit.edu	37	6	56535563	56535563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	ENST00000361203.3	-	6	464	c.457G>A	c.(457-459)Gca>Aca	p.A153T	DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000370754.5_Missense_Mutation_p.A331T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000370769.4_Missense_Mutation_p.A153T			Q03001	DYST_HUMAN	dystonin	153	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			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)			CTCTCTTTTGCAGACATATCC	0.403																																						ENST00000361203.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.995883	0.990000	1.000000																										0				105						c.(457-459)Gca>Aca		dystonin							63.0	56.0	58.0					6																	56535563		1882	4126	6008	SO:0001583	missense	667	0	0					g.chr6:56535563C>T	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.457G>A	chr6.hg19:g.56535563C>T	ENSP00000354508:p.Ala153Thr	0					DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000370754.5_Missense_Mutation_p.A331T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000370769.4_Missense_Mutation_p.A153T	p.A153T			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	6	464	-	Lung NSC(77;0.103)		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	1	1	hg19	c.457G>A		1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544300	0.86022	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.87	4.87	0.63330	4.87	4.87	0.63330	Calponin homology domain (4);	0.000000	0.52532	D	0.000061	D	0.98172	0.9396	M	0.91717	3.235	0.33638	D	0.606963	D;D;D;D;D;D	0.89917	0.999;0.999;0.995;1.0;0.999;0.999	D;D;D;D;D;D	0.81914	0.988;0.994;0.988;0.994;0.995;0.994	D	0.98869	1.0765	9	0.87932	D	0	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	182;153;153;331;269;153	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	T	331;153;153;153;153;153;193;331;104;146	ENSP00000359790:A331T;ENSP00000359805:A153T;ENSP00000400883:A153T;ENSP00000307959:A153T;ENSP00000359824:A153T;ENSP00000354508:A153T;ENSP00000431030:A193T;ENSP00000393082:A331T;ENSP00000429075:A104T;ENSP00000429221:A146T	ENSP00000307959:A153T	A	-	1	0	0	DST	56643522	56643522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.680000	0.91292	0.591000	0.81541	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-19.997150	1	0.170000	NM_001723			13	13		73	70	1		1	1		0	0	31	0		9.995899e-01	9.258327e-01	0	13	0	15	0	13	73
DST	667	broad.mit.edu	37	6	56716322	56716322	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	ENST00000370754.5	-	4	497	c.498T>G	c.(496-498)tcT>tcG	p.S166S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			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)			ATGCGGAGCCAGATTTCTGGC	0.512											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370754.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999877	0.990000	1.000000																										0				105						c.(496-498)tcT>tcG		dystonin							55.0	52.0	53.0					6																	56716322		1568	3582	5150	SO:0001819	synonymous_variant	667	0	0					g.chr6:56716322A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.498T>G	chr6.hg19:g.56716322A>C		0		OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	RP11-472M19.2_ENST00000426453.1_RNA	p.S166S			0	0	0	1.973144	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)	4	497	-	Lung NSC(77;0.103)		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370754.5	1	1	hg19	c.498T>G		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_001723			25	25		127	126	1		1	0		0	0	47	0		9.999999e-01	7.767072e-02	0	1	0	2	0	25	127
BEND6	221336	broad.mit.edu	37	6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A	rs371013253	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370746.3	+	3	483	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370748.3_Missense_Mutation_p.A72T|BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					ENST00000370746.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(214-216)Gcc>Acc		BEN domain containing 6		G	THR/ALA	2,3626		0,2,1812	128.0	131.0	130.0		214	-2.2	0.7	6		130	0,8156		0,0,4078	no	missense	BEND6	NM_152731.2	58	0,2,5890	AA,AG,GG		0.0,0.0551,0.017	benign	72/280	56857269	2,11782	1814	4078	5892	SO:0001583	missense	221336	11	120788	46				g.chr6:56857269G>A	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.214G>A	chr6.hg19:g.56857269G>A	ENSP00000359782:p.Ala72Thr	0					BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370748.3_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	p.A72T	NM_152731.2	NP_689944.2	0	0	0	1.973144	Q5SZJ8	BEND6_HUMAN		3	483	+			Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	1	1	hg19	c.214G>A	CCDS43476.1	1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195656	0.22037	5.51E-4	0.0	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	-2.23	0.06930	5.04	-2.23	0.06930	.	0.684405	0.13848	N	0.358570	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40813	-0.9543	9	0.02654	T	1	0.3172	10.0363	0.42131	0.3402:0.0:0.6598:0.0	.	72	Q5SZJ8	BEND6_HUMAN	T	72	.	ENSP00000322773:A72T	A	+	1	0	0	BEND6	56965228	56965228	0.944000	0.32072	0.741000	0.31004	0.960000	0.62799	0.361000	0.20267	-0.276000	0.09206	-0.137000	0.14449	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	0	0	1		19	2	2	1		1	1	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_152731			138	136		654	646	1		1	0		1	0	137	0		1	3.537224e-01	0	0	0	7	0	138	654
ZNF451	26036	broad.mit.edu	37	6	57012453	57012453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012453G>T	ENST00000370706.4	+	10	1814	c.1570G>T	c.(1570-1572)Gca>Tca	p.A524S	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A524S|ZNF451_ENST00000491832.2_Missense_Mutation_p.A524S|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TCACGGAGGGGCACATTTAAA	0.403																																						ENST00000370706.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1570-1572)Gca>Tca		zinc finger protein 451							190.0	183.0	185.0					6																	57012453		2203	4300	6503	SO:0001583	missense	26036	0	0					g.chr6:57012453G>T	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.1570G>T	chr6.hg19:g.57012453G>T	ENSP00000359740:p.Ala524Ser	0					RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A524S|ZNF451_ENST00000357489.3_Missense_Mutation_p.A524S|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	p.A524S	NM_001031623.2	NP_001026794.1	0	0	0	1.973144	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)	10	1814	+	Lung NSC(77;0.145)		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	1	0	hg19	c.1570G>T	CCDS43477.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557298	0.86231	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.09255	3.0;3.0;3.0	5.41	5.41	0.78517	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.996	T	0.01972	-1.1237	10	0.56958	D	0.05	-14.6963	19.216	0.93778	0.0:0.0:1.0:0.0	.	524;524;524;524	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	S	524	ENSP00000359740:A524S;ENSP00000350083:A524S;ENSP00000421645:A524S	ENSP00000350083:A524S	A	+	1	0	0	ZNF451	57120412	57120412	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.035000	0.93752	2.529000	0.85273	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	0	0	0		19	2	2	1		1	1	215		215	213	1	2.060000	-20.000000	1	0.170000	NM_015555			218	215		981	960	1		1	1		1	0	215	0		1	9.987426e-01	0	3	0	43	0	218	981
LGSN	51557	broad.mit.edu	37	6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T	rs199883532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	404					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTTCTATCCGGGTGCCTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18915	0.0		0.0	False		,,,				2504	0.001					ENST00000370657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1210-1212)cGg>cAg		lengsin, lens protein with glutamine synthetase domain		C	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	106.0	104.0		,1211	2.8	0.9	6		104	0,8600		0,0,4300	yes	utr-3,missense	LGSN	NM_001143940.1,NM_016571.2	,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,404/510	63990245	1,13005	2203	4300	6503	SO:0001583	missense	51557	29	121412	47				g.chr6:63990245C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1211G>A	chr6.hg19:g.63990245C>T	ENSP00000359691:p.Arg404Gln	0					LGSN_ENST00000370658.5_3'UTR	p.R404Q			0	0	0	1.973144	Q5TDP6	LGSN_HUMAN		4	1244	-			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	1	1	hg19	c.1211G>A	CCDS4964.1	1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576455	0.13686	2.27E-4	0.0	ENSG00000146166	ENST00000370657	D	0.89617	-2.54	5.96	2.76	0.32466	5.96	2.76	0.32466	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.249758	0.46145	N	0.000315	T	0.59211	0.2177	N	0.10837	0.055	0.80722	D	1	B	0.21688	0.059	B	0.15052	0.012	T	0.60182	-0.7313	10	0.56958	D	0.05	-9.1962	2.0179	0.03502	0.2492:0.3787:0.0:0.3721	.	404	Q5TDP6	LGSN_HUMAN	Q	404	ENSP00000359691:R404Q	ENSP00000359691:R404Q	R	-	2	0	0	LGSN	64048204	64048204	0.928000	0.31464	0.925000	0.36789	0.019000	0.09904	1.550000	0.36223	0.808000	0.34231	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1		2	2	2	0		0	0	125		125	123	1	2.060000	-2.841707	1	0.170000	NM_016571			88	87		535	525	1		1			0	0	125	0		1	0	0	0	0	0	0	88	535
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370657.4	-	4	1047	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	338					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCCAGTGATCGTGAGCTGCT	0.488																																						ENST00000370657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1012-1014)acG>acA		lengsin, lens protein with glutamine synthetase domain							92.0	94.0	93.0					6																	63990442		2202	4300	6502	SO:0001819	synonymous_variant	51557	3	121412	37				g.chr6:63990442C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1014G>A	chr6.hg19:g.63990442C>T		0					LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q	p.T338T			0	0	0	1.973144	Q5TDP6	LGSN_HUMAN		4	1047	-			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	1	1	hg19	c.1014G>A	CCDS4964.1	1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755162	0.31046	.	.	ENSG00000146166	ENST00000370658	T	0.29655	1.56	5.55	-4.6	0.03390	5.55	-4.6	0.03390	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40365	-0.9567	8	0.29301	T	0.29	-8.7929	7.2324	0.26051	0.0:0.1424:0.351:0.5066	.	198	Q5TDP6-2	.	Q	198	ENSP00000359692:R198Q	ENSP00000359692:R198Q	R	-	2	0	0	LGSN	64048401	64048401	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-2.323000	0.01117	-0.523000	0.06409	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000	NM_016571			105	102		421	414	1		1			0	0	89	0		1	0	0	0	0	0	0	105	421
LGSN	51557	broad.mit.edu	37	6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370657.4	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370658.5_Missense_Mutation_p.V35F			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	35					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTAGTGACTTTCTTCCTT	0.383																																						ENST00000370657.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(103-105)Gtc>Ttc		lengsin, lens protein with glutamine synthetase domain							273.0	247.0	256.0					6																	64004878		2203	4300	6503	SO:0001583	missense	51557	0	0					g.chr6:64004878C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.103G>T	chr6.hg19:g.64004878C>A	ENSP00000359691:p.Val35Phe	0					LGSN_ENST00000370658.5_Missense_Mutation_p.V35F	p.V35F			0	0	0	1.973144	Q5TDP6	LGSN_HUMAN		2	136	-			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	1	1	hg19	c.103G>T	CCDS4964.1	1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741295	0.30865	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.31510	1.49;1.58	4.71	3.81	0.43845	4.71	3.81	0.43845	.	0.617997	0.16143	N	0.227638	T	0.31734	0.0806	M	0.61703	1.905	0.30343	N	0.785487	D;P;B	0.63046	0.992;0.828;0.435	P;P;B	0.59487	0.858;0.576;0.303	T	0.13019	-1.0525	10	0.72032	D	0.01	-5.3792	9.4806	0.38898	0.0:0.8938:0.0:0.1062	.	35;35;35	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	F	35	ENSP00000359692:V35F;ENSP00000359691:V35F	ENSP00000359691:V35F	V	-	1	0	0	LGSN	64062837	64062837	0.993000	0.37304	0.991000	0.47740	0.050000	0.14768	1.937000	0.40193	1.041000	0.40125	0.591000	0.81541	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_016571			61	61		343	332	1		1			0	0	78	0		1	0	0	0	0	0	0	61	343
LGSN	51557	broad.mit.edu	37	6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370657.4	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370658.5_Missense_Mutation_p.G17D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	17					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTCTCATTGCCTTCATCTCT	0.343																																						ENST00000370657.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				34						c.(49-51)gGc>gAc		lengsin, lens protein with glutamine synthetase domain							222.0	198.0	206.0					6																	64004931		2203	4300	6503	SO:0001583	missense	51557	0	0					g.chr6:64004931C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.50G>A	chr6.hg19:g.64004931C>T	ENSP00000359691:p.Gly17Asp	0					LGSN_ENST00000370658.5_Missense_Mutation_p.G17D	p.G17D			0	0	0	1.973144	Q5TDP6	LGSN_HUMAN		2	83	-			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	1	1	hg19	c.50G>A	CCDS4964.1	1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339613	0.01277	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.29917	1.55;1.71	4.71	-3.36	0.04913	4.71	-3.36	0.04913	.	1.469430	0.03347	N	0.195606	T	0.06142	0.0159	L	0.28115	0.83	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.24941	-1.0146	10	0.42905	T	0.14	-0.0486	2.1585	0.03819	0.1468:0.2274:0.1273:0.4985	.	17;17;17	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	17	ENSP00000359692:G17D;ENSP00000359691:G17D	ENSP00000359691:G17D	G	-	2	0	0	LGSN	64062890	64062890	0.000000	0.05858	0.044000	0.18714	0.045000	0.14185	-1.711000	0.01886	-0.751000	0.04734	-0.218000	0.12543	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-19.999960	1	0.170000	NM_016571			49	49		266	262	1		1			0	0	62	0		1	0	0	0	0	0	0	49	266
PTP4A1	7803	broad.mit.edu	37	6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	113	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				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)			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)			CAGAGCTCCAGTACTTGTTGC	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)	ENST00000370651.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(337-339)Gta>Tta		protein tyrosine phosphatase type IVA, member 1							105.0	100.0	102.0					6																	64289169		2203	4300	6503	SO:0001583	missense	7803	0	0					g.chr6:64289169G>T	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.337G>T	chr6.hg19:g.64289169G>T	ENSP00000359685:p.Val113Leu	0					PTP4A1_ENST00000370650.2_Intron	p.V113L	NM_003463.3	NP_003454.1	0	0	0	1.973144	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)	5	1490	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	ENST00000370651.3	1	1	hg19	c.337G>T	CCDS4965.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520784	0.85495	.	.	ENSG00000112245	ENST00000370651	D	0.85088	-1.94	5.96	5.96	0.96718	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.80028	2.48	0.80722	D	1	B	0.19445	0.036	B	0.30646	0.118	T	0.81807	-0.0763	10	0.62326	D	0.03	-15.7504	20.394	0.98981	0.0:0.0:1.0:0.0	.	113	Q93096	TP4A1_HUMAN	L	113	ENSP00000359685:V113L	ENSP00000359685:V113L	V	+	1	0	0	PTP4A1	64347128	64347128	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000				67	66		316	313	1		1	1		0	0	62	0		1	1	0	107	0	412	0	67	316
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000262043.3	+	4	821	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000509330.1_Missense_Mutation_p.A161S|PHF3_ENST00000393387.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			CACAAAAAAAGCATCTGGGAA	0.393																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(481-483)Gca>Tca		PHD finger protein 3							160.0	170.0	166.0					6																	64394104		2203	4300	6503	SO:0001583	missense	23469	0	0					g.chr6:64394104G>T	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.481G>T	chr6.hg19:g.64394104G>T	ENSP00000262043:p.Ala161Ser	0					PHF3_ENST00000393387.1_Missense_Mutation_p.A161S|PHF3_ENST00000509330.1_Missense_Mutation_p.A161S	p.A161S			0	0	0	1.973144	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	4	821	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	1	1	hg19	c.481G>T	CCDS4966.1	1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643124	0.14451	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41400	2.01;2.32;2.01;1.0;2.32	5.69	1.84	0.25277	5.69	1.84	0.25277	.	0.563095	0.13620	N	0.374471	T	0.09774	0.0240	L	0.38531	1.155	0.20307	N	0.999911	B;B	0.31435	0.031;0.323	B;B	0.26770	0.008;0.073	T	0.35051	-0.9804	10	0.15066	T	0.55	-5.3199	6.3407	0.21321	0.0696:0.3046:0.4872:0.1386	.	161;161	Q92576;D6R9X2	PHF3_HUMAN;.	S	73;161;114;161;161;91	ENSP00000425227:A73S;ENSP00000262043:A161S;ENSP00000424078:A114S;ENSP00000422841:A161S;ENSP00000377048:A161S	ENSP00000262043:A161S	A	+	1	0	0	PHF3	64452063	64452063	0.992000	0.36948	0.835000	0.33067	0.985000	0.73830	0.067000	0.14510	-0.158000	0.11040	-0.810000	0.03169	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	1		2	2	2	0		0	0	215		215	215	1	2.060000	-20.000000	1	0.170000				152	148		667	658	1		1	1		0	0	215	1		1	9.999458e-01	0	13	0	50	0	152	667
PHF3	23469	broad.mit.edu	37	6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1028	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			GCTTGGAGACGAAGAGAAAAC	0.313																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	1.000000	0.800000	1	9.500000e-01	0.990000	0.980007	0.990000	1.000000																										0				75						c.(3082-3084)cGa>cAa		PHD finger protein 3							61.0	63.0	62.0					6																	64410340		2203	4298	6501	SO:0001583	missense	23469	0	0					g.chr6:64410340G>A	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.3083G>A	chr6.hg19:g.64410340G>A	ENSP00000262043:p.Arg1028Gln	0					PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q	p.R1028Q			0	0	0	1.973144	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	9	3423	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	1	1	hg19	c.3083G>A	CCDS4966.1	1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554481	0.65425	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.40225	2.32;1.04;2.35;2.35	5.26	5.26	0.73747	5.26	5.26	0.73747	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (2);	0.000000	0.30410	N	0.009690	T	0.05823	0.0152	N	0.01631	-0.79	0.35713	D	0.816557	B	0.21147	0.052	B	0.15870	0.014	T	0.27806	-1.0063	10	0.17832	T	0.49	-8.7725	6.8689	0.24108	0.2167:0.0:0.7833:0.0	.	1028	Q92576	PHF3_HUMAN	Q	842;297;1028;1028	ENSP00000424694:R842Q;ENSP00000425338:R297Q;ENSP00000262043:R1028Q;ENSP00000377048:R1028Q	ENSP00000262043:R1028Q	R	+	2	0	0	PHF3	64468299	64468299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	2.456000	0.83038	0.467000	0.42956	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.142702	1	0.170000				32	31		293	289	1		1	1		0	0	56	0		1	9.994090e-01	0	8	0	98	0	32	293
PHF3	23469	broad.mit.edu	37	6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3	1757					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			ATTTCGAAGAGGATCAGCAGT	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(5269-5271)Gga>Tga		PHD finger protein 3							98.0	96.0	97.0					6																	64422753		2203	4300	6503	SO:0001587	stop_gained	23469	0	0					g.chr6:64422753G>T	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.5269G>T	chr6.hg19:g.64422753G>T	ENSP00000262043:p.Gly1757*	0					PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*	p.G1757*			0	0	0	1.973144	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	16	5609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	0	1	hg19	c.5269G>T	CCDS4966.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.083548	0.99332	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.38663	N	0.001604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7549	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	1757	.	.	G	+	1	0	0	PHF3	64480712	64480712	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	6.716000	0.74702	2.836000	0.97738	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	1		18	7	2	1		1	1	104		104	103	1	2.060000	-2.887536	1	0.170000				91	87		462	456	0		1	1		1	0	104	0		1	9.999957e-01	0	34	0	124	0	91	462
EYS	346007	broad.mit.edu	37	6	66053985	66053985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000370621.3	-	10	2071	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000370618.3_Silent_p.N515N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	515					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)			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						CTTCAGGATCGTTCACATAGG	0.373																																						ENST00000370621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1543-1545)aaC>aaT		eyes shut homolog (Drosophila)							98.0	98.0	98.0					6																	66053985		2203	4300	6503	SO:0001819	synonymous_variant	346007	1	121390	38				g.chr6:66053985G>A		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.1545C>T	chr6.hg19:g.66053985G>A		0					EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N	p.N515N			0	0	0	1.973144	Q5T1H1	EYS_HUMAN		10	2071	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	1	1	hg19	c.1545C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	XM_294050			60	59		273	268	1		1			0	0	68	0		1	0	0	0	0	0	0	60	273
EYS	346007	broad.mit.edu	37	6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000370621.3	-	9	1919	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000503581.1_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000370618.3_Missense_Mutation_p.F465V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					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)			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						ATACCATGGAAGGTGACTCCA	0.368																																						ENST00000370621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1393-1395)Ttc>Gtc		eyes shut homolog (Drosophila)							117.0	107.0	111.0					6																	66063417		2203	4300	6503	SO:0001583	missense	346007	0	0					g.chr6:66063417A>C		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.1393T>G	chr6.hg19:g.66063417A>C	ENSP00000359655:p.Phe465Val	0					EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000503581.1_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V	p.F465V			0	0	0	1.973144	Q5T1H1	EYS_HUMAN		9	1919	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	1	1	hg19	c.1393T>G		1	.	.	.	.	.	.	.	.	.	.	a	5.754	0.323466	0.10900	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.14	1.69	0.24217	4.14	1.69	0.24217	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.006;0.004;0.005	T	0.47849	-0.9085	9	0.17369	T	0.5	.	3.4856	0.07618	0.6336:0.0:0.1204:0.2461	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	465	ENSP00000424243:F465V;ENSP00000359655:F465V;ENSP00000359650:F465V;ENSP00000377042:F465V;ENSP00000341818:F465V;ENSP00000359652:F465V	ENSP00000341818:F465V	F	-	1	0	0	EYS	66120138	66120138	0.011000	0.17503	0.001000	0.08648	0.009000	0.06853	1.014000	0.29950	0.063000	0.16370	-0.326000	0.08463	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	XM_294050			63	63		330	320	1		1			0	0	64	0		1	0	0	0	0	0	0	63	330
EYS	346007	broad.mit.edu	37	6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000370621.3	-	9	1882	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	452					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)			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						GATGAATTAGGTAAACATTCT	0.368																																						ENST00000370621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1354-1356)taC>taA		eyes shut homolog (Drosophila)							116.0	105.0	109.0					6																	66063454		2203	4300	6503	SO:0001587	stop_gained	346007	0	0					g.chr6:66063454G>T		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.1356C>A	chr6.hg19:g.66063454G>T	ENSP00000359655:p.Tyr452*	0					EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*	p.Y452*			0	0	0	1.973144	Q5T1H1	EYS_HUMAN		9	1882	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	0	1	hg19	c.1356C>A		1	.	.	.	.	.	.	.	.	.	.	g	36	5.640997	0.96693	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.14	3.09	0.35607	4.14	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.5793	0.07946	0.3058:0.0:0.6942:0.0	.	.	.	.	X	452	.	ENSP00000341818:Y452X	Y	-	3	2	2	EYS	66120175	66120175	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.467000	0.22035	1.855000	0.53841	0.591000	0.81541	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	0		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	XM_294050			59	58		301	292	1		1			0	0	66	0		1	0	0	0	0	0	0	59	301
EYS	346007	broad.mit.edu	37	6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000370621.3	-	4	782	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000503581.1_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000370618.3_Missense_Mutation_p.D86N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	86					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)			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						ACAAGGATATCTCCTAATTGA	0.363																																						ENST00000370621.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(256-258)Gat>Aat		eyes shut homolog (Drosophila)							80.0	82.0	81.0					6																	66205048		2203	4300	6503	SO:0001583	missense	346007	1	121412	31				g.chr6:66205048C>T		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.256G>A	chr6.hg19:g.66205048C>T	ENSP00000359655:p.Asp86Asn	0					EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000503581.1_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N	p.D86N			0	0	0	1.973144	Q5T1H1	EYS_HUMAN		4	782	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	1	1	hg19	c.256G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043179	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.91180	-2.14;-2.13;-2.13;-2.8;-2.77;-2.77	4.92	3.1	0.35709	4.92	3.1	0.35709	.	.	.	.	.	T	0.82107	0.4965	N	0.24115	0.695	0.23381	N	0.997799	D;D;D	0.65815	0.971;0.995;0.991	P;P;P	0.59288	0.805;0.855;0.813	T	0.73487	-0.3967	9	0.30078	T	0.28	.	7.7935	0.29133	0.0:0.8008:0.0:0.1992	.	86;86;86	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	86	ENSP00000424243:D86N;ENSP00000359655:D86N;ENSP00000359650:D86N;ENSP00000377042:D86N;ENSP00000341818:D86N;ENSP00000359652:D86N	ENSP00000341818:D86N	D	-	1	0	0	EYS	66261769	66261769	1.000000	0.71417	0.312000	0.25196	0.448000	0.32197	3.507000	0.53371	0.555000	0.29079	0.591000	0.81541	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	XM_294050			72	71		419	413	1		1		0	0	0	113	0		1	0	0	0	0	0	1	72	419
BAI3	577	broad.mit.edu	37	6	69653757	69653757	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69653757T>G	ENST00000370598.1	+	6	1887	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	356	TSP type-1 2. {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)			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)				ACCATGGAGTTTATGTTCATT	0.423																																						ENST00000370598.1	0.360000	0.110000	2.900000e-01	1.600000e-01	0.210000	0.228522	0.210000	0.210000																										0				210						c.(1066-1068)Tta>Gta		brain-specific angiogenesis inhibitor 3							242.0	193.0	210.0					6																	69653757		2203	4300	6503	SO:0001583	missense	577	0	0					g.chr6:69653757T>G	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.1066T>G	chr6.hg19:g.69653757T>G	ENSP00000359630:p.Leu356Val	0						p.L356V	NM_001704.2	NP_001695	0	0	0	1.973144	O60242	BAI3_HUMAN		6	1887	+		all_lung(197;0.212)	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	0	1	hg19	c.1066T>G	CCDS4968.1	0	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762932	0.69763	.	.	ENSG00000135298	ENST00000370598	T	0.52754	0.65	5.16	1.52	0.23074	5.16	1.52	0.23074	.	0.000000	0.64402	D	0.000004	T	0.23133	0.0559	N	0.04805	-0.155	0.80722	D	1	D	0.61697	0.99	P	0.60173	0.87	T	0.06789	-1.0807	10	0.31617	T	0.26	.	9.3381	0.38062	0.0:0.187:0.0:0.813	.	356	O60242	BAI3_HUMAN	V	356	ENSP00000359630:L356V	ENSP00000359630:L356V	L	+	1	2	2	BAI3	69710478	69710478	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.086000	0.41643	0.116000	0.18110	0.528000	0.53228	TTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-9.365692	1	0.170000				12	11		642	632	0		1	0		0	0	102	0		9.990271e-01	0	0	0	0	1	0	12	642
BAI3	577	broad.mit.edu	37	6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	920					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)			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)				TTCTGCCTGTCTATCATCTCA	0.348																																						ENST00000370598.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				210						c.(2758-2760)tCt>tTt		brain-specific angiogenesis inhibitor 3							183.0	177.0	179.0					6																	69949063		2203	4298	6501	SO:0001583	missense	577	0	0					g.chr6:69949063C>T	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.2759C>T	chr6.hg19:g.69949063C>T	ENSP00000359630:p.Ser920Phe	0					BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	p.S920F	NM_001704.2	NP_001695	0	0	0	1.973144	O60242	BAI3_HUMAN		20	3580	+		all_lung(197;0.212)	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	1	1	hg19	c.2759C>T	CCDS4968.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722341	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.996;0.99;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	18.5605	0.91098	0.0:1.0:0.0:0.0	.	126;920;920	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	920;126	ENSP00000359630:S920F;ENSP00000238918:S126F	ENSP00000238918:S126F	S	+	2	0	0	BAI3	70005784	70005784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	1	0	0		2	2	2	0		0	0	161		161	160	1	2.060000	-20.000000	1	0.170000				98	98		522	517	1		1			0	0	161	0		1	0	0	0	0	0	0	98	522
BAI3	577	broad.mit.edu	37	6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000546190.1_Missense_Mutation_p.I183S|BAI3_ENST00000238918.8_Missense_Mutation_p.I425S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1219					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)			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)				CTTTCTAGGATTTCTCTAAAT	0.393																																						ENST00000370598.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				210						c.(3655-3657)aTt>aGt		brain-specific angiogenesis inhibitor 3							87.0	87.0	87.0					6																	70070821		2203	4300	6503	SO:0001583	missense	577	0	0					g.chr6:70070821T>G	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.3656T>G	chr6.hg19:g.70070821T>G	ENSP00000359630:p.Ile1219Ser	0					BAI3_ENST00000238918.8_Missense_Mutation_p.I425S|BAI3_ENST00000546190.1_Missense_Mutation_p.I183S	p.I1219S	NM_001704.2	NP_001695	0	0	0	1.973144	O60242	BAI3_HUMAN		29	4477	+		all_lung(197;0.212)	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	1	1	hg19	c.3656T>G	CCDS4968.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932263	0.73442	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	2.02;2.63;0.85	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.72982	0.979;0.915	T	0.41627	-0.9498	10	0.02654	T	1	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	425;1219	B7Z356;O60242	.;BAI3_HUMAN	S	1219;425;183	ENSP00000359630:I1219S;ENSP00000238918:I425S;ENSP00000441821:I183S	ENSP00000238918:I425S	I	+	2	0	0	BAI3	70127542	70127542	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.698000	0.84413	2.126000	0.65437	0.482000	0.46254	ATT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000				68	66		389	382	1		1			0	0	62	0		1	0	0	0	0	0	0	68	389
COL19A1	1310	broad.mit.edu	37	6	70608839	70608839	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						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)			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						TTTTTAAATAGAAGAGTCATG	0.308																																						ENST00000322773.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				109						c.e3-1		collagen, type XIX, alpha 1							66.0	69.0	68.0					6																	70608839		2203	4298	6501	SO:0001630	splice_region_variant	1310	0	0					g.chr6:70608839G>A		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.92-1G>A	chr6.hg19:g.70608839G>A		0							NM_001858.4	NP_001849.2	0	0	0	1.973144	Q14993	COJA1_HUMAN		3	193	+			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	1	1	hg19		CCDS4970.1	1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263867	0.23136	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	COL19A1	70665560	70665560	0.997000	0.39634	0.935000	0.37517	0.032000	0.12392	2.586000	0.46119	2.721000	0.93114	0.650000	0.86243	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1		2	2	2	0		0	0	57		57	55	1	2.060000	-3.233648	1	0.170000		Intron		39	39		184	182	1		1			0	0	57	0		1	0	0	0	0	0	0	39	184
COL19A1	1310	broad.mit.edu	37	6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	526	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)			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						ATTTTAGGGTCAGCAAGGATC	0.368																																						ENST00000322773.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				109						c.(1576-1578)Cag>Tag		collagen, type XIX, alpha 1							91.0	95.0	94.0					6																	70852662		2203	4300	6503	SO:0001587	stop_gained	1310	0	0					g.chr6:70852662C>T		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.1576C>T	chr6.hg19:g.70852662C>T	ENSP00000316030:p.Gln526*	0					COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	p.Q526*	NM_001858.4	NP_001849.2	0	0	0	1.973144	Q14993	COJA1_HUMAN		23	1678	+			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	0	1	hg19	c.1576C>T	CCDS4970.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928743	0.92389	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.157235	0.42053	D	0.000772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.4175	0.83746	0.0:1.0:0.0:0.0	.	.	.	.	X	526;148	.	ENSP00000316030:Q526X	Q	+	1	0	0	COL19A1	70909383	70909383	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.243000	0.43115	2.613000	0.88420	0.585000	0.79938	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-19.999950	1	0.170000				48	45		252	248	1		1			0	0	68	0		1	0	0	0	0	0	0	48	252
COL19A1	1310	broad.mit.edu	37	6	70866246	70866246	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	741	Collagen-like 7.|Triple-helical region 4 (COL4).				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)			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						GAATCCCAGGAAGAGAGGGAC	0.458																																						ENST00000322773.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(2221-2223)ggA>ggG		collagen, type XIX, alpha 1							96.0	96.0	96.0					6																	70866246		2203	4300	6503	SO:0001819	synonymous_variant	1310	0	0					g.chr6:70866246A>G		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.2223A>G	chr6.hg19:g.70866246A>G		0					COL19A1_ENST00000393344.1_Silent_p.G363G	p.G741G	NM_001858.4	NP_001849.2	0	0	0	1.973144	Q14993	COJA1_HUMAN		33	2325	+			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	1	1	hg19	c.2223A>G	CCDS4970.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000				69	68		330	326	1		1			0	0	103	0		1	0	0	0	0	0	0	69	330
COL9A1	1297	broad.mit.edu	37	6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	568	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCTGCAATCCTGCATCACCA	0.373																																						ENST00000357250.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1702-1704)Gga>Aga		collagen, type IX, alpha 1							72.0	68.0	70.0					6																	70964196		2203	4300	6503	SO:0001583	missense	1297	0	0					g.chr6:70964196C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1702G>A	chr6.hg19:g.70964196C>T	ENSP00000349790:p.Gly568Arg	0					COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR	p.G568R	NM_001851.4	NP_001842.3	0	0	0	1.973144	P20849	CO9A1_HUMAN		25	1860	-			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	1	1	hg19	c.1702G>A	CCDS4971.1	1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249956	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99454	4.575	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	0.96439	0.9325	10	0.87932	D	0	.	18.1361	0.89619	0.0:1.0:0.0:0.0	.	568;325;141	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	568;325;325	ENSP00000349790:G568R;ENSP00000315252:G325R;ENSP00000359530:G325R	ENSP00000315252:G325R	G	-	1	0	0	COL9A1	71020917	71020917	0.999000	0.42202	0.262000	0.24481	0.990000	0.78478	6.026000	0.70873	2.713000	0.92767	0.591000	0.81541	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.213263	1	0.170000				55	54		213	209	1		1	0		0	0	67	0		1	4.423512e-01	0	0	0	7	0	55	213
COL9A1	1297	broad.mit.edu	37	6	70972947	70972947	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000320755.7_Splice_Site_p.P222P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.P222P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	465	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						aataCTTTACTGGAGGTCCTT	0.318																																						ENST00000357250.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				80						c.(1393-1395)ccA>ccG		collagen, type IX, alpha 1							33.0	35.0	34.0					6																	70972947		2203	4299	6502	SO:0001630	splice_region_variant	1297	0	0					g.chr6:70972947T>C		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1395+1A>G	chr6.hg19:g.70972947T>C		0					COL9A1_ENST00000320755.7_Splice_Site_p.P222P|COL9A1_ENST00000370499.4_Splice_Site_p.P222P|COL9A1_ENST00000489611.1_5'UTR	p.P465P	NM_001851.4	NP_001842.3	0	0	0	1.973144	P20849	CO9A1_HUMAN		19	1553	-			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	ENST00000357250.6	1	0	hg19	c.1395A>G	CCDS4971.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000		Silent		27	26		113	112	1		1	0		0	0	22	0		1	4.137595e-01	0	0	0	7	0	27	113
FAM135A	57579	broad.mit.edu	37	6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000418814.2	+	15	3135	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	841										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						GACATCCATAAACTCTCTACC	0.323																																						ENST00000418814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2521-2523)Aac>Cac		family with sequence similarity 135, member A							52.0	51.0	51.0					6																	71235308		2202	4295	6497	SO:0001583	missense	57579	0	0					g.chr6:71235308A>C	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.2521A>C	chr6.hg19:g.71235308A>C	ENSP00000410768:p.Asn841His	0					FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H	p.N841H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	0	0	0	1.973144	Q9P2D6	F135A_HUMAN		15	3135	+			A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	1	1	hg19	c.2521A>C	CCDS55028.1	1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234751	0.58886	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.59663	-0.7412	10	0.51188	T	0.08	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	841;841;645;628	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	841;628;628;645;841	ENSP00000410768:N841H;ENSP00000359510:N628H;ENSP00000409201:N628H;ENSP00000354913:N645H;ENSP00000423307:N841H	ENSP00000354913:N645H	N	+	1	0	0	FAM135A	71292029	71292029	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.843000	0.92142	2.289000	0.77006	0.482000	0.46254	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_020819			45	43		174	170	1		1	1		0	0	58	0		1	9.999999e-01	0	45	0	58	0	45	174
FAM135A	57579	broad.mit.edu	37	6	71236360	71236360	+	Silent	SNP	G	G	A	rs201206743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000418814.2	+	15	4187	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000370479.3_Silent_p.S978S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1191										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						TCACTTCTTCGATTTCCTGGT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.001	False		,,,				2504	0.0					ENST00000418814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3571-3573)tcG>tcA		family with sequence similarity 135, member A							52.0	55.0	54.0					6																	71236360		2203	4299	6502	SO:0001819	synonymous_variant	57579	6	121396	39				g.chr6:71236360G>A	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.3573G>A	chr6.hg19:g.71236360G>A		0					FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505868.1_Silent_p.S1191S	p.S1191S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	0	0	0	1.973144	Q9P2D6	F135A_HUMAN		15	4187	+			A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	1	1	hg19	c.3573G>A	CCDS55028.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.238340	1	0.170000	NM_020819			64	61		327	318	1		1	1		0	0	69	0		1	1	0	73	0	129	0	64	327
FAM135A	57579	broad.mit.edu	37	6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A	rs532369145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000418814.2	+	18	4519	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1302								p.R1089H(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						ATGACTGATCGTCTTTTGGAT	0.254													G|||	1	0.000199681	0.0	0.0	5008	,	,		16373	0.001		0.0	False		,,,				2504	0.0					ENST00000418814.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997768	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1089H(1)	central_nervous_system(1)	38						c.(3904-3906)cGt>cAt		family with sequence similarity 135, member A							99.0	98.0	98.0					6																	71243497		2197	4283	6480	SO:0001583	missense	57579	3	121344	31				g.chr6:71243497G>A	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.3905G>A	chr6.hg19:g.71243497G>A	ENSP00000410768:p.Arg1302His	0					FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H	p.R1302H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	0	0	0	1.973144	Q9P2D6	F135A_HUMAN		18	4519	+			A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	1	1	hg19	c.3905G>A	CCDS55028.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019663	0.93462	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.15	5.15	0.70609	5.15	5.15	0.70609	Domain of unknown function DUF676, lipase-like (1);	0.106313	0.64402	D	0.000004	T	0.77890	0.4198	M	0.88704	2.975	0.80722	D	1	P;D;D;D;D	0.89917	0.902;1.0;1.0;0.998;1.0	P;D;D;P;D	0.97110	0.701;0.999;1.0;0.862;0.984	T	0.81586	-0.0865	10	0.62326	D	0.03	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	882;1302;1302;1106;1089	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	H	1302;1089;882;1089;1106;1302	ENSP00000410768:R1302H;ENSP00000359510:R1089H;ENSP00000423785:R882H;ENSP00000409201:R1089H;ENSP00000354913:R1106H;ENSP00000423307:R1302H	ENSP00000354913:R1106H	R	+	2	0	0	FAM135A	71300218	71300218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.553000	0.86117	0.557000	0.71058	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.254	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-10.547450	1	0.170000	NM_020819			15	15		82	81	1		1	1		0	0	27	0		9.999104e-01	9.999915e-01	0	47	0	80	0	15	82
FAM135A	57579	broad.mit.edu	37	6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000418814.2	+	19	4587	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1325										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						AAGCTTTATTGGACATTCGTT	0.318																																						ENST00000418814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3973-3975)Gga>Aga		family with sequence similarity 135, member A							101.0	103.0	103.0					6																	71245970		2202	4299	6501	SO:0001583	missense	57579	0	0					g.chr6:71245970G>A	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.3973G>A	chr6.hg19:g.71245970G>A	ENSP00000410768:p.Gly1325Arg	0					FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R	p.G1325R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	0	0	0	1.973144	Q9P2D6	F135A_HUMAN		19	4587	+			A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	1	1	hg19	c.3973G>A	CCDS55028.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.51	5.51	0.81932	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.096119	0.64402	D	0.000001	D	0.86744	0.6006	M	0.91038	3.17	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;1.0;0.981;1.0	D;D;D;D;D	0.97110	0.921;0.987;1.0;0.914;0.988	D	0.89187	0.3548	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	905;1325;1325;1129;1112	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	R	1325;1112;905;1112;1129;1325	ENSP00000410768:G1325R;ENSP00000359510:G1112R;ENSP00000423785:G905R;ENSP00000409201:G1112R;ENSP00000354913:G1129R;ENSP00000423307:G1325R	ENSP00000354913:G1129R	G	+	1	0	0	FAM135A	71302691	71302691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.766000	0.98957	2.575000	0.86900	0.585000	0.79938	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.235216	1	0.170000	NM_020819			55	54		290	283	1		1	1		0	0	68	0		1	1	0	73	0	105	0	55	290
OGFRL1	79627	broad.mit.edu	37	6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	278						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383																																						ENST00000370435.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(832-834)aGt>aTt		opioid growth factor receptor-like 1							75.0	85.0	82.0					6																	72011229		2203	4300	6503	SO:0001583	missense	79627	0	0					g.chr6:72011229G>T		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.833G>T	chr6.hg19:g.72011229G>T	ENSP00000359464:p.Ser278Ile	0					RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA	p.S278I	NM_024576.3	NP_078852.3	0	0	0	1.973144	Q5TC84	OGRL1_HUMAN		7	967	+			Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	1	1	hg19	c.833G>T	CCDS34482.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463810	0.84425	.	.	ENSG00000119900	ENST00000370435	T	0.55234	0.53	6.04	6.04	0.98038	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73161	-0.4070	10	0.87932	D	0	-26.5249	20.5948	0.99439	0.0:0.0:1.0:0.0	.	278	Q5TC84	OGRL1_HUMAN	I	278	ENSP00000359464:S278I	ENSP00000359464:S278I	S	+	2	0	0	OGFRL1	72067950	72067950	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	0	0	1		2	2	2	0		0	0	163		163	159	1	2.060000	-20.000000	1	0.170000	NM_024576			140	136		609	599	1		1	1		0	0	163	0		1	1	0	8	0	96	0	140	609
RIMS1	22999	broad.mit.edu	37	6	72889425	72889425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72889425G>T	ENST00000521978.1	+	5	619	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E207*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	207					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)			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)				GGTACCAAGAGAAAAGAAAGC	0.567																																						ENST00000521978.1	0.480000	0.140000	3.800000e-01	2.000000e-01	0.280000	0.299937	0.280000	0.280000																										0				102						c.(619-621)Gaa>Taa		regulating synaptic membrane exocytosis 1							72.0	80.0	78.0					6																	72889425		2051	4206	6257	SO:0001587	stop_gained	22999	0	0					g.chr6:72889425G>T	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.619G>T	chr6.hg19:g.72889425G>T	ENSP00000428417:p.Glu207*	0					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E207*	p.E207*	NM_014989.5	NP_055804.2	0	0	0	1.973144	Q86UR5	RIMS1_HUMAN		5	619	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	0	1	hg19	c.619G>T	CCDS47449.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.118274	0.97300	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6795	19.7321	0.96186	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264839:E207X	E	+	1	0	0	RIMS1	72946146	72946146	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.023000	0.70848	2.668000	0.90789	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-9.142844	1	0.170000				10	10		409	405	0		1			0	0	95	0		9.968074e-01	0	0	0	0	0	0	10	409
RIMS1	22999	broad.mit.edu	37	6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000521978.1	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R776C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	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)			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)				AGTAGATGGACGTCCTCGAAA	0.358																																						ENST00000521978.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994764	0.990000	1.000000																										0				102						c.(2326-2328)Cgt>Tgt		regulating synaptic membrane exocytosis 1							79.0	73.0	75.0					6																	72960117		1842	4088	5930	SO:0001583	missense	22999	8	120724	37				g.chr6:72960117C>T	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.2326C>T	chr6.hg19:g.72960117C>T	ENSP00000428417:p.Arg776Cys	0					RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R776C	p.R776C	NM_014989.5	NP_055804.2	0	0	0	1.973144	Q86UR5	RIMS1_HUMAN		13	2326	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	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	0	1	hg19	c.2326C>T	CCDS47449.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001142|4.001142	0.74818|0.74818	.|.	.|.	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|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;1.53|.	5.28|5.28	5.28|5.28	0.74379|0.74379	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.99;0.994;0.999;0.999;1.0;0.999;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	-15.9688|-15.9688	14.1452|14.1452	0.65347|0.65347	0.15:0.8499:0.0:0.0|0.15:0.8499:0.0:0.0	.|.	235;250;776;235;250;776;776|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	776;776;776;776;776;776;776;776;776;776;776;776;250;250;169;169;235;1|349	ENSP00000430101:R776C;ENSP00000275037:R776C;ENSP00000264839:R776C;ENSP00000429959:R776C;ENSP00000430408:R776C;ENSP00000430502:R776C;ENSP00000430932:R776C;ENSP00000428417:R776C;ENSP00000385649:R250C;ENSP00000428328:R250C;ENSP00000411235:R169C;ENSP00000389503:R169C;ENSP00000428367:R235C;ENSP00000359448:R1C|.	ENSP00000264839:R776C|.	R|T	+|+	1|2	0|0	0|0	RIMS1|RIMS1	73016838|73016838	73016838|73016838	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	2.896000|2.896000	0.48656|0.48656	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	CGT|ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-9.851880	1	0.170000				15	15		95	94	0		1			0	0	20	0		9.999054e-01	0	0	0	0	0	0	15	95
RIMS1	22999	broad.mit.edu	37	6	73108697	73108697	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000521978.1	+	33	4761	c.4761T>C	c.(4759-4761)tgT>tgC	p.C1587C	RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000264839.7_Silent_p.C1436C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000425662.2_Silent_p.C655C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1587	C2 2. {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)			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)				ATGGGGCCTGTATAGCCAAGA	0.333																																						ENST00000521978.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(4759-4761)tgT>tgC		regulating synaptic membrane exocytosis 1							96.0	93.0	94.0					6																	73108697		1821	4088	5909	SO:0001819	synonymous_variant	22999	0	0					g.chr6:73108697T>C	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.4761T>C	chr6.hg19:g.73108697T>C		0					RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000264839.7_Silent_p.C1436C	p.C1587C	NM_014989.5	NP_055804.2	0	0	0	1.973144	Q86UR5	RIMS1_HUMAN		33	4761	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	1	1	hg19	c.4761T>C	CCDS47449.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.660|6.660	0.490392|0.490392	0.12702|0.12702	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.37|5.37	2.75|2.75	0.32379|0.32379	5.37|5.37	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.43166|0.43166	0.1235|0.1235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35649|0.35649	-0.9780|-0.9780	4|4	.|.	.|.	.|.	-13.4425|-13.4425	8.1248|8.1248	0.30992|0.30992	0.0:0.2829:0.0:0.7171|0.0:0.2829:0.0:0.7171	.|.	.|.	.|.	.|.	A|H	505|933	.|.	.|.	V|Y	+|+	2|1	0|0	0|0	RIMS1|RIMS1	73165418|73165418	73165418|73165418	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	-0.266000|-0.266000	0.08631|0.08631	0.995000|0.995000	0.38917|0.38917	0.482000|0.482000	0.46254|0.46254	GTA|TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000				40	40		168	164	1		1			0	0	33	0		1	0	0	0	0	0	0	40	168
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000370398.1	+	5	948	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTATTTTTTCGTCTTTCCTT	0.338																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	1.000000	0.940000	1	9.900000e-01	0.990000	0.996542	0.990000	1.000000																										1	Substitution - Missense(1)	p.S280L(1)	lung(1)	57						c.(838-840)tCg>tTg		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)						138.0	118.0	125.0					6																	73787531		2203	4300	6503	SO:0001583	missense	56479	0	0					g.chr6:73787531C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.839C>T	chr6.hg19:g.73787531C>T	ENSP00000359425:p.Ser280Leu	0					KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L	p.S280L	NM_019842.3	NP_062816.2	0	0	0	1.973144	Q9NR82	KCNQ5_HUMAN		5	948	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	1	1	hg19	c.839C>T	CCDS4976.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	0	KCNQ5	73844252	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-11.133810	1	0.170000	NM_019842			20	20		134	133	1		1			0	0	31	0		9.999968e-01	0	0	0	0	0	0	20	134
KCNQ5	56479	broad.mit.edu	37	6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000370398.1	+	11	1589	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L513F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	494					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGACACAGCCCTTGGCACTGA	0.433																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				57						c.(1480-1482)Ctt>Ttt		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)						146.0	121.0	130.0					6																	73879480		2203	4300	6503	SO:0001583	missense	56479	0	0					g.chr6:73879480C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1480C>T	chr6.hg19:g.73879480C>T	ENSP00000359425:p.Leu494Phe	0					KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L513F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F	p.L494F	NM_019842.3	NP_062816.2	0	0	0	1.973144	Q9NR82	KCNQ5_HUMAN		11	1589	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	1	1	hg19	c.1480C>T	CCDS4976.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995844	0.74703	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.156361	0.44285	D	0.000465	D	0.99174	0.9714	L	0.52573	1.65	0.80722	D	1	D;P;P;D	0.58970	0.957;0.599;0.739;0.984	P;B;B;D	0.67103	0.822;0.27;0.382;0.949	D	0.99960	1.1712	10	0.09590	T	0.72	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	504;513;485;494	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	F	513;513;494;494;504;495;485	ENSP00000345055:L513F;ENSP00000347326:L494F;ENSP00000359425:L494F;ENSP00000385501:L504F;ENSP00000347853:L495F;ENSP00000384453:L485F	ENSP00000345055:L513F	L	+	1	0	0	KCNQ5	73936201	73936201	0.998000	0.40836	0.969000	0.41365	0.965000	0.64279	4.120000	0.57897	2.726000	0.93360	0.655000	0.94253	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.665692	1	0.170000	NM_019842			47	47		232	227	1		1			0	0	66	0		1	0	0	0	0	0	0	47	232
KCNQ5	56479	broad.mit.edu	37	6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000370398.1	+	12	1728	c.1619C>T	c.(1618-1620)aCa>aTa	p.T540I	KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T559I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	540					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAAGGAAACATTACGTCCA	0.303																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999722	0.990000	1.000000																										0				57						c.(1618-1620)aCa>aTa		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)						88.0	78.0	82.0					6																	73900337		2203	4300	6503	SO:0001583	missense	56479	0	0					g.chr6:73900337C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1619C>T	chr6.hg19:g.73900337C>T	ENSP00000359425:p.Thr540Ile	0					KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T559I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I	p.T540I	NM_019842.3	NP_062816.2	0	0	0	1.973144	Q9NR82	KCNQ5_HUMAN		12	1728	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	1	1	hg19	c.1619C>T	CCDS4976.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359449	0.82353	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.02	5.02	0.67125	5.02	5.02	0.67125	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.76574	2.34	0.39638	D	0.970273	D;D;P;P;D	0.89917	0.999;1.0;0.954;0.858;1.0	D;D;P;P;D	0.85130	0.931;0.991;0.771;0.661;0.997	D	0.97990	1.0354	10	0.87932	D	0	.	18.3416	0.90307	0.0:1.0:0.0:0.0	.	430;550;559;531;540	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	559;559;540;540;550;541;531;430	ENSP00000345055:T559I;ENSP00000347326:T540I;ENSP00000359425:T540I;ENSP00000385501:T550I;ENSP00000347853:T541I;ENSP00000384453:T531I;ENSP00000409861:T430I	ENSP00000345055:T559I	T	+	2	0	0	KCNQ5	73957058	73957058	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	7.814000	0.86154	2.301000	0.77427	0.643000	0.83706	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-14.359180	1	0.170000	NM_019842			24	24		130	129	1		1	0		0	0	45	0		9.999998e-01	0	0	0	0	1	0	24	130
KCNQ5	56479	broad.mit.edu	37	6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000370398.1	+	14	2205	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A718V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	699					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGTTCAGTGCCCAGACTTTC	0.512																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(2095-2097)gCc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)						135.0	134.0	134.0					6																	73904434		2203	4300	6503	SO:0001583	missense	56479	0	0					g.chr6:73904434C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2096C>T	chr6.hg19:g.73904434C>T	ENSP00000359425:p.Ala699Val	0					KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A718V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V	p.A699V	NM_019842.3	NP_062816.2	0	0	0	1.973144	Q9NR82	KCNQ5_HUMAN		14	2205	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	1	1	hg19	c.2096C>T	CCDS4976.1	1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954657	0.34471	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.57;-5.57;-5.57;-5.57;-5.58;-5.61;-5.78	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.212896	0.39341	N	0.001382	D	0.96516	0.8863	L	0.40543	1.245	0.25032	N	0.991266	B;B;B;B;B	0.24368	0.102;0.004;0.046;0.076;0.046	B;B;B;B;B	0.27380	0.079;0.026;0.045;0.047;0.045	D	0.93106	0.6512	10	0.38643	T	0.18	-5.5489	14.5834	0.68308	0.0:0.8541:0.1459:0.0	.	589;709;718;690;699	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	718;718;699;699;709;700;690;589	ENSP00000345055:A718V;ENSP00000347326:A699V;ENSP00000359425:A699V;ENSP00000385501:A709V;ENSP00000347853:A700V;ENSP00000384453:A690V;ENSP00000409861:A589V	ENSP00000345055:A718V	A	+	2	0	0	KCNQ5	73961155	73961155	0.997000	0.39634	0.859000	0.33776	0.975000	0.68041	3.482000	0.53186	2.486000	0.83907	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1		2	2	2	0		0	0	148		148	148	1	2.060000	-20.000000	1	0.170000	NM_019842			116	111		568	555	1		1	0		0	0	148	0		1	2.929456e-02	0	0	0	2	0	116	568
MTO1	25821	broad.mit.edu	37	6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000370300.4	+	6	1083	c.993G>T	c.(991-993)caG>caT	p.Q331H	AL603910.1_ENST00000580608.1_RNA|MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000498286.1_Missense_Mutation_p.Q331H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	331					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTACATCAGGTTTGGTTGG	0.383											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000370300.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(991-993)caG>caT		mitochondrial tRNA translation optimization 1							123.0	114.0	117.0					6																	74189713		2203	4300	6503	SO:0001583	missense	25821	0	0					g.chr6:74189713G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.993G>T	chr6.hg19:g.74189713G>T	ENSP00000359323:p.Gln331His	0		OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|AL603910.1_ENST00000580608.1_RNA|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H|MTO1_ENST00000498286.1_Missense_Mutation_p.Q331H	p.Q331H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	0	0	0	1.973144	Q9Y2Z2	MTO1_HUMAN		6	1083	+			B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	1	1	hg19	c.993G>T	CCDS4979.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393532	0.62066	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.14	2.33	0.28932	5.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.62723	1.935	0.49687	D	0.999819	P;P;P	0.52170	0.951;0.912;0.929	P;P;P	0.56960	0.712;0.712;0.81	T	0.76857	-0.2804	10	0.87932	D	0	-16.8034	9.0065	0.36115	0.2501:0.0:0.7499:0.0	.	331;331;331	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	H	331;331;234;257;331	ENSP00000402038:Q331H;ENSP00000419561:Q331H;ENSP00000359328:Q257H;ENSP00000359323:Q331H	ENSP00000350506:Q234H	Q	+	3	2	2	MTO1	74246434	74246434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.201000	0.51059	0.672000	0.31204	0.591000	0.81541	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-2.925000	1	0.170000	NM_012123			76	74		318	313	1		1	1		0	0	59	0		1	9.748921e-01	0	5	0	22	0	76	318
MTO1	25821	broad.mit.edu	37	6	74201963	74201963	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000370300.4	+	11	1809	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000498286.1_Silent_p.L548L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000415954.2_Silent_p.L588L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	573					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCAGAGCTCTCGATGTTCTGA	0.373																																						ENST00000370300.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				27						c.(1717-1719)ctC>ctT		mitochondrial tRNA translation optimization 1							71.0	70.0	70.0					6																	74201963		2203	4300	6503	SO:0001819	synonymous_variant	25821	0	0					g.chr6:74201963C>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1719C>T	chr6.hg19:g.74201963C>T		0					MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000498286.1_Silent_p.L548L	p.L573L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	0	0	0	1.973144	Q9Y2Z2	MTO1_HUMAN		11	1809	+			B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	1	1	hg19	c.1719C>T	CCDS4979.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-2.889421	1	0.170000	NM_012123			44	43		218	213	1		1	1		0	0	29	0		1	9.992836e-01	0	13	0	44	0	44	218
EEF1A1	1915	broad.mit.edu	37	6	74228449	74228449	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000331523.2_Silent_p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	248					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(742-744)ctG>ctA		eukaryotic translation elongation factor 1 alpha 1							132.0	133.0	133.0					6																	74228449		2203	4300	6503	SO:0001819	synonymous_variant	1915	0	0					g.chr6:74228449C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.744G>A	chr6.hg19:g.74228449C>T		0		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000331523.2_Silent_p.L248L|EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron	p.L248L	NM_001402.5	NP_001393.1	0	0	0	1.973144	P68104	EF1A1_HUMAN		4	1735	-			P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	1	1	hg19	c.744G>A	CCDS4980.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	1	0	1		2	2	2	0		0	0	85		85	88	1	2.060000	-20.000000	1	0.170000	NM_001402			73	70		306	287	1		1	1		0	0	85	0		1	1	0	18	0	1514	0	73	306
SLC17A5	26503	broad.mit.edu	37	6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	345					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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358																																						ENST00000355773.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1033-1035)tCt>tAt		solute carrier family 17 (acidic sugar transporter), member 5							100.0	94.0	96.0					6																	74325115		2203	4300	6503	SO:0001583	missense	26503	0	0					g.chr6:74325115G>T	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.1034C>A	chr6.hg19:g.74325115G>T	ENSP00000348019:p.Ser345Tyr	0					SLC17A5_ENST00000393019.3_3'UTR	p.S345Y	NM_012434.4	NP_036566.1	0	0	0	1.973144	Q9NRA2	S17A5_HUMAN		8	1302	-			Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	1	1	hg19	c.1034C>A	CCDS4981.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627768	0.46944	.	.	ENSG00000119899	ENST00000355773	T	0.59364	0.27	4.83	3.94	0.45596	4.83	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372016	0.29767	N	0.011245	T	0.57799	0.2078	L	0.51422	1.61	0.80722	D	1	P;P	0.51791	0.843;0.948	P;P	0.60345	0.873;0.815	T	0.61382	-0.7074	10	0.51188	T	0.08	.	14.6465	0.68764	0.0:0.1519:0.8481:0.0	.	407;345	E1P537;Q9NRA2	.;S17A5_HUMAN	Y	345	ENSP00000348019:S345Y	ENSP00000348019:S345Y	S	-	2	0	0	SLC17A5	74381836	74381836	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.192000	0.58378	0.980000	0.38523	0.561000	0.74099	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				50	47		248	245	1		1	1		0	0	58	0		1	1	0	66	0	145	0	50	248
CD109	135228	broad.mit.edu	37	6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000287097.5	+	2	212	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Missense_Mutation_p.G34W|CD109_ENST00000437994.2_Missense_Mutation_p.G34W			Q6YHK3	CD109_HUMAN	CD109 molecule	34					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)			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						GACAGCCCCAGGGATCATCAG	0.507																																						ENST00000287097.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(100-102)Ggg>Tgg		CD109 molecule							107.0	106.0	106.0					6																	74407148		2203	4300	6503	SO:0001583	missense	135228	0	0					g.chr6:74407148G>T	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.100G>T	chr6.hg19:g.74407148G>T	ENSP00000287097:p.Gly34Trp	0					CD109_ENST00000437994.2_Missense_Mutation_p.G34W|RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Missense_Mutation_p.G34W	p.G34W			0	0	0	1.973144	Q6YHK3	CD109_HUMAN		2	212	+			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	1	1	hg19	c.100G>T	CCDS4982.1	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099419	0.37048	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23552	1.9;2.05;1.9	5.31	3.39	0.38822	5.31	3.39	0.38822	.	0.166019	0.38492	N	0.001678	T	0.13927	0.0337	N	0.14661	0.345	0.23848	N	0.996675	D;B;B;B	0.59357	0.985;0.133;0.023;0.012	P;B;B;B	0.61592	0.891;0.025;0.017;0.01	T	0.04413	-1.0953	10	0.45353	T	0.12	.	8.848	0.35181	0.1943:0.0:0.8057:0.0	.	34;34;34;34	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	W	34	ENSP00000388062:G34W;ENSP00000404475:G34W;ENSP00000287097:G34W	ENSP00000287097:G34W	G	+	1	0	0	CD109	74463869	74463869	0.998000	0.40836	0.987000	0.45799	0.829000	0.46940	1.048000	0.30379	1.492000	0.48499	0.655000	0.94253	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.603085	1	0.170000	NM_133493			71	70		382	377	1		1	1		0	0	97	0		1	5.849869e-01	0	4	0	8	0	71	382
CD109	135228	broad.mit.edu	37	6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000287097.5	+	21	2631	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000437994.2_Missense_Mutation_p.T840I			Q6YHK3	CD109_HUMAN	CD109 molecule	840					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)			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						CTTTCACCCACTGCTTCTGAT	0.423																																						ENST00000287097.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2518-2520)aCt>aTt		CD109 molecule							106.0	103.0	104.0					6																	74497138		2203	4300	6503	SO:0001583	missense	135228	0	0					g.chr6:74497138C>T	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.2519C>T	chr6.hg19:g.74497138C>T	ENSP00000287097:p.Thr840Ile	0					CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000437994.2_Missense_Mutation_p.T840I	p.T840I			0	0	0	1.973144	Q6YHK3	CD109_HUMAN		21	2631	+			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	1	1	hg19	c.2519C>T	CCDS4982.1	1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066072	0.08388	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21734	1.99;2.2;1.99	5.45	-2.97	0.05530	5.45	-2.97	0.05530	.	1.575850	0.04485	U	0.378552	T	0.03520	0.0101	L	0.28014	0.82	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.19391	0.004;0.025;0.002	T	0.38001	-0.9681	10	0.21014	T	0.42	.	2.6389	0.04965	0.0932:0.2575:0.2987:0.3506	.	763;840;840	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	840;763;840	ENSP00000388062:T840I;ENSP00000404475:T763I;ENSP00000287097:T840I	ENSP00000287097:T840I	T	+	2	0	0	CD109	74553859	74553859	0.001000	0.12720	0.089000	0.20774	0.724000	0.41520	-0.157000	0.10085	-0.433000	0.07286	0.650000	0.86243	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_133493			64	65		355	349	1		1	1		0	0	91	0		1	9.984862e-01	0	13	0	43	0	64	355
COL12A1	1303	broad.mit.edu	37	6	75839891	75839891	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S|COL12A1_ENST00000416123.2_Silent_p.S2042S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2042	Fibronectin type-III 16. {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)			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						CCCAGGCTACCGAGAGGCTAT	0.438																																						ENST00000322507.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(6124-6126)tcG>tcA		collagen, type XII, alpha 1							126.0	124.0	125.0					6																	75839891		1896	4122	6018	SO:0001819	synonymous_variant	1303	0	0					g.chr6:75839891C>T	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.6126G>A	chr6.hg19:g.75839891C>T		0					COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S|COL12A1_ENST00000483888.2_Silent_p.S2042S	p.S2042S	NM_004370.5	NP_004361.3	0	0	0	1.973144	Q99715	COCA1_HUMAN		37	6435	-			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	1	1	hg19	c.6126G>A	CCDS43482.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-2.364545	0	0.170000	NM_004370			57	57		276	273	1		1	0		0	0	79	0		1	1	0	0	0	382	0	57	276
COL12A1	1303	broad.mit.edu	37	6	75840677	75840677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T|COL12A1_ENST00000416123.2_Silent_p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1986	Fibronectin type-III 15. {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)			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						GCACCATGCGCGTGTTTCCTG	0.507																																						ENST00000322507.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(5956-5958)acG>acA		collagen, type XII, alpha 1							94.0	96.0	95.0					6																	75840677		2071	4226	6297	SO:0001819	synonymous_variant	1303	1	120986	30				g.chr6:75840677C>T	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.5958G>A	chr6.hg19:g.75840677C>T		0					COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T|COL12A1_ENST00000483888.2_Silent_p.T1986T	p.T1986T	NM_004370.5	NP_004361.3	0	0	0	1.973144	Q99715	COCA1_HUMAN		36	6267	-			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	1	1	hg19	c.5958G>A	CCDS43482.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_004370			68	64		329	323	1		1	0		0	0	89	0		1	1	0	0	0	504	0	68	329
COL12A1	1303	broad.mit.edu	37	6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1816	Fibronectin type-III 13. {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)			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						TAAGGAGTGTCTGGCTTCAGT	0.498																																						ENST00000322507.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(5446-5448)Gac>Tac		collagen, type XII, alpha 1							142.0	143.0	143.0					6																	75844520		1972	4165	6137	SO:0001583	missense	1303	0	0					g.chr6:75844520C>A	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.5446G>T	chr6.hg19:g.75844520C>A	ENSP00000325146:p.Asp1816Tyr	0					COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y	p.D1816Y	NM_004370.5	NP_004361.3	0	0	0	1.973144	Q99715	COCA1_HUMAN		32	5755	-			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	1	1	hg19	c.5446G>T	CCDS43482.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.933242|3.933242	0.73442|0.73442	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.87|5.87	5.0|5.0	0.66597|0.66597	5.87|5.87	5.0|5.0	0.66597|0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61862|0.61862	0.2381|0.2381	M|M	0.63208|0.63208	1.945|1.945	0.46823|0.46823	D|D	0.999218|0.999218	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.983;0.994|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|5	0.72032|.	D|.	0.01|.	.|.	15.0639|15.0639	0.71977|0.71977	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	652;1816|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1816;1816;652;1816;1816|550	ENSP00000325146:D1816Y;ENSP00000305147:D652Y;ENSP00000412864:D1816Y;ENSP00000421216:D1816Y|.	ENSP00000325146:D1816Y|.	D|R	-|-	1|2	0|0	0|0	COL12A1|COL12A1	75901240|75901240	75901240|75901240	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.764000|0.764000	0.43329|0.43329	5.594000|5.594000	0.67557|0.67557	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GAC|AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_004370			68	68		275	268	1		1	1		0	0	76	0		1	1	0	3	0	476	0	68	275
COL12A1	1303	broad.mit.edu	37	6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1805	Fibronectin type-III 13. {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)			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						CCACACTGTTCTGCCGTCCTC	0.478																																						ENST00000322507.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(5413-5415)caG>caT		collagen, type XII, alpha 1							128.0	131.0	130.0					6																	75844551		1983	4148	6131	SO:0001583	missense	1303	0	0					g.chr6:75844551C>A	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.5415G>T	chr6.hg19:g.75844551C>A	ENSP00000325146:p.Gln1805His	0					COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H	p.Q1805H	NM_004370.5	NP_004361.3	0	0	0	1.973144	Q99715	COCA1_HUMAN		32	5724	-			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	1	1	hg19	c.5415G>T	CCDS43482.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.251718|3.251718	0.59212|0.59212	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	3.06|3.06	0.35304|0.35304	5.8|5.8	3.06|3.06	0.35304|0.35304	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.48714	.|0.1515	L|L	0.50993|0.50993	1.605|1.605	0.34862|0.34862	D|D	0.742689|0.742689	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.64410	.|0.878;0.925	.|T	.|0.49597	.|-0.8923	.|10	.|0.36615	.|T	.|0.2	.|.	10.5114|10.5114	0.44864|0.44864	0.0:0.7372:0.0:0.2628|0.0:0.7372:0.0:0.2628	.|.	.|641;1805	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	X|H	540|1805;1805;641;1805;1805	.|ENSP00000325146:Q1805H;ENSP00000305147:Q641H;ENSP00000412864:Q1805H;ENSP00000421216:Q1805H	.|ENSP00000325146:Q1805H	E|Q	-|-	1|3	0|2	0|2	COL12A1|COL12A1	75901271|75901271	75901271|75901271	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.621000|0.621000	0.24418|0.24418	0.805000|0.805000	0.34159|0.34159	0.650000|0.650000	0.86243|0.86243	GAA|CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	0		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_004370			73	72		279	271	1		1	1		0	0	67	0		1	1	0	3	0	542	0	73	279
COL12A1	1303	broad.mit.edu	37	6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	257	VWFA 1. {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)			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						GGAATTTCCACTTCATCCTGG	0.373																																						ENST00000322507.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(769-771)Gtg>Ttg		collagen, type XII, alpha 1							79.0	76.0	77.0					6																	75898987		1843	4091	5934	SO:0001583	missense	1303	0	0					g.chr6:75898987C>A	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.769G>T	chr6.hg19:g.75898987C>A	ENSP00000325146:p.Val257Leu	0					COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L	p.V257L	NM_004370.5	NP_004361.3	0	0	0	1.973144	Q99715	COCA1_HUMAN		7	1078	-			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	1	1	hg19	c.769G>T	CCDS43482.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839537	0.91117	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	5.78	0.91487	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.85575	0.5728	M	0.62266	1.93	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.85774	0.1357	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	257	Q99715	COCA1_HUMAN	L	257	ENSP00000325146:V257L;ENSP00000412864:V257L;ENSP00000421216:V257L	ENSP00000325146:V257L	V	-	1	0	0	COL12A1	75955707	75955707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_004370			46	46		195	195	1		1	1		0	0	59	0		1	1	0	2	0	227	0	46	195
FILIP1	27145	broad.mit.edu	37	6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A	rs201450409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000237172.7	-	5	3362	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.T1011M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1011										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						TGTAGACACCGTCATTATCTG	0.493																																						ENST00000237172.7	1.000000	0.970000	1	9.900000e-01	0.990000	0.998423	0.990000	1.000000																										0				80						c.(3031-3033)aCg>aTg		filamin A interacting protein 1							133.0	130.0	131.0					6																	76022516		2203	4300	6503	SO:0001583	missense	27145	4	121412	38				g.chr6:76022516G>A	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.3032C>T	chr6.hg19:g.76022516G>A	ENSP00000237172:p.Thr1011Met	0					FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T1011M|FILIP1_ENST00000498523.1_5'UTR	p.T1011M	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		5	3362	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	1	1	hg19	c.3032C>T	CCDS4984.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887244	0.91814	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	1.99;2.0;2.01	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.045131	0.85682	D	0.000000	T	0.34716	0.0907	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.926;0.95;0.977	T	0.01159	-1.1433	10	0.51188	T	0.08	-22.8688	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1011;1011;1011	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1011;1011;912	ENSP00000376728:T1011M;ENSP00000237172:T1011M;ENSP00000359037:T912M	ENSP00000237172:T1011M	T	-	2	0	0	FILIP1	76079236	76079236	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.231000	0.95317	2.861000	0.98227	0.655000	0.94253	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	0	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-19.999840	1	0.170000	XM_029179			77	78		654	644	1		1	0		0	0	119	0		1	2.477288e-01	0	0	0	9	0	77	654
FILIP1	27145	broad.mit.edu	37	6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000237172.7	-	5	2917	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.L863F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	863										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						CTCATAGTGAGCTCATTTGCT	0.473																																						ENST00000237172.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2587-2589)Ctc>Ttc		filamin A interacting protein 1							94.0	101.0	99.0					6																	76022961		2203	4300	6503	SO:0001583	missense	27145	0	0					g.chr6:76022961G>A	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.2587C>T	chr6.hg19:g.76022961G>A	ENSP00000237172:p.Leu863Phe	0					FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000393004.2_Missense_Mutation_p.L863F|FILIP1_ENST00000498523.1_5'UTR	p.L863F	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		5	2917	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	1	1	hg19	c.2587C>T	CCDS4984.1	1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160255	0.09287	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20598	2.06;2.06;2.07	5.9	5.01	0.66863	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50333	1.59	0.47621	D	0.999475	D;B;B	0.56035	0.974;0.058;0.095	P;B;B	0.53450	0.726;0.036;0.078	T	0.01235	-1.1410	10	0.41790	T	0.15	-11.3231	12.5159	0.56032	0.0:0.1275:0.7399:0.1326	.	863;863;863	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	863;863;764	ENSP00000376728:L863F;ENSP00000237172:L863F;ENSP00000359037:L764F	ENSP00000237172:L863F	L	-	1	0	0	FILIP1	76079681	76079681	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.561000	0.45905	1.459000	0.47892	0.563000	0.77884	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	0		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	XM_029179			119	117		558	545	1		1	0		0	0	116	0		1	4.252354e-01	0	1	0	7	0	119	558
FILIP1	27145	broad.mit.edu	37	6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000237172.7	-	5	2837	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.S836N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	836										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						CCGAAGATTACTCATAATATG	0.458																																						ENST00000237172.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2506-2508)aGt>aAt		filamin A interacting protein 1							138.0	153.0	148.0					6																	76023041		2203	4300	6503	SO:0001583	missense	27145	1	121412	39				g.chr6:76023041C>T	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.2507G>A	chr6.hg19:g.76023041C>T	ENSP00000237172:p.Ser836Asn	0					FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000393004.2_Missense_Mutation_p.S836N|FILIP1_ENST00000498523.1_5'UTR	p.S836N	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		5	2837	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	1	1	hg19	c.2507G>A	CCDS4984.1	1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569228	0.28003	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19250	2.17;2.17;2.16	5.66	4.79	0.61399	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.52099	D	0.999946	B;B;B	0.27656	0.103;0.115;0.184	B;B;B	0.31101	0.031;0.058;0.124	T	0.06844	-1.0804	10	0.52906	T	0.07	-12.8369	14.5701	0.68205	0.0:0.9301:0.0:0.0699	.	836;836;836	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	836;836;737	ENSP00000376728:S836N;ENSP00000237172:S836N;ENSP00000359037:S737N	ENSP00000237172:S836N	S	-	2	0	0	FILIP1	76079761	76079761	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	3.921000	0.56454	1.410000	0.46936	-0.251000	0.11542	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	0		2	2	2	0		0	0	198		198	197	1	2.060000	-20.000000	1	0.170000	XM_029179			191	187		884	861	1		1	0		0	0	198	0		1	4.309619e-01	0	0	0	8	0	191	884
FILIP1	27145	broad.mit.edu	37	6	76023250	76023250	+	Silent	SNP	C	C	T	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000237172.7	-	5	2628	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.G766G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	766										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						GAACCTCCTGCCCCATGTTTT	0.413																																						ENST00000237172.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2296-2298)ggG>ggA		filamin A interacting protein 1							127.0	131.0	129.0					6																	76023250		2203	4300	6503	SO:0001819	synonymous_variant	27145	0	0					g.chr6:76023250C>T	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.2298G>A	chr6.hg19:g.76023250C>T		0					FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000393004.2_Silent_p.G766G|FILIP1_ENST00000498523.1_5'UTR	p.G766G	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		5	2628	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	1	1	hg19	c.2298G>A	CCDS4984.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	XM_029179			94	94		553	547	1		1	0		0	0	112	0		1	1.587342e-01	0	0	0	5	0	94	553
FILIP1	27145	broad.mit.edu	37	6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000237172.7	-	5	1430	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.A367V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	367										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						TTCTCCTTTGGCAATTTTATC	0.413																																						ENST00000237172.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1099-1101)gCc>gTc		filamin A interacting protein 1							160.0	160.0	160.0					6																	76024448		2203	4300	6503	SO:0001583	missense	27145	1	121410	32				g.chr6:76024448G>A	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.1100C>T	chr6.hg19:g.76024448G>A	ENSP00000237172:p.Ala367Val	0					FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A367V|FILIP1_ENST00000498523.1_5'UTR	p.A367V	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		5	1430	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	1	1	hg19	c.1100C>T	CCDS4984.1	1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580619	0.28180	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18338	2.22;2.22;2.22	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.165064	0.56097	D	0.000031	T	0.07728	0.0194	N	0.25647	0.755	0.34645	D	0.721069	P;B;P	0.38922	0.651;0.415;0.551	B;B;B	0.36922	0.15;0.119;0.236	T	0.21042	-1.0257	10	0.25751	T	0.34	-18.1589	20.0965	0.97849	0.0:0.0:1.0:0.0	.	367;367;367	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	367;367;268	ENSP00000376728:A367V;ENSP00000237172:A367V;ENSP00000359037:A268V	ENSP00000237172:A367V	A	-	2	0	0	FILIP1	76081168	76081168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.824000	0.97209	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	XM_029179			146	141		715	704	1		1	0		0	0	131	0		1	2.037107e-01	0	0	0	5	0	146	715
FILIP1	27145	broad.mit.edu	37	6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000237172.7	-	3	712	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000440220.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	128								p.H128N(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						GCATCTCGGTGCAGGACCCGC	0.493																																						ENST00000237172.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.H128N(1)	upper_aerodigestive_tract(1)	80						c.(382-384)Cac>Tac		filamin A interacting protein 1							118.0	118.0	118.0					6																	76072528		2203	4300	6503	SO:0001583	missense	27145	0	0					g.chr6:76072528G>A	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.382C>T	chr6.hg19:g.76072528G>A	ENSP00000237172:p.His128Tyr	0					RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000588761.1_RNA	p.H128Y	NM_015687.2	NP_056502.1	0	0	0	1.973144	Q7Z7B0	FLIP1_HUMAN		3	712	-			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	1	1	hg19	c.382C>T	CCDS4984.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049184	0.93740	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.051098	0.85682	D	0.000000	T	0.36276	0.0961	N	0.22421	0.69	0.80722	D	1	D;P;P	0.59767	0.986;0.941;0.927	P;P;P	0.53006	0.715;0.592;0.561	T	0.14531	-1.0469	10	0.54805	T	0.06	-19.3947	20.4777	0.99188	0.0:0.0:1.0:0.0	.	128;128;128	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	128;128;29	ENSP00000376728:H128Y;ENSP00000237172:H128Y;ENSP00000359037:H29Y	ENSP00000237172:H128Y	H	-	1	0	0	FILIP1	76129248	76129248	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.993000	0.88291	2.840000	0.97914	0.655000	0.94253	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	XM_029179			82	82		443	436	0		1	0		0	0	105	0		1	1.777350e-01	0	0	0	5	0	82	443
SENP6	26054	broad.mit.edu	37	6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000447266.2	+	19	3076	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	866	Protease.				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)			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)				AAATAAATCATACTGCGAGTG	0.358																																						ENST00000447266.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2596-2598)caT>caG		SUMO1/sentrin specific peptidase 6							124.0	123.0	124.0					6																	76412670		1834	4093	5927	SO:0001583	missense	26054	0	0					g.chr6:76412670T>G		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.2598T>G	chr6.hg19:g.76412670T>G	ENSP00000402527:p.His866Gln	0					SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron	p.H866Q	NM_015571.2	NP_056386.2	0	0	0	1.973144	Q9GZR1	SENP6_HUMAN		19	3076	+		all_hematologic(105;0.189)	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	1	1	hg19	c.2598T>G	CCDS47454.1	1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026728	0.07589	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.10763	2.84;2.84;2.84	5.85	0.5	0.16919	5.85	0.5	0.16919	.	0.313789	0.35179	N	0.003387	T	0.01189	0.0039	N	0.11560	0.145	0.31730	N	0.637123	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.47420	-0.9119	10	0.27082	T	0.32	-7.1186	1.7865	0.03043	0.1332:0.1508:0.3504:0.3656	.	859;866	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	859;866;866	ENSP00000359027:H859Q;ENSP00000359031:H866Q;ENSP00000402527:H866Q	ENSP00000359027:H859Q	H	+	3	2	2	SENP6	76469390	76469390	0.998000	0.40836	0.976000	0.42696	0.868000	0.49771	0.292000	0.19011	0.142000	0.18901	-0.361000	0.07541	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_015571			139	136		574	564	1		1	1		0	0	158	0		1	1	0	18	0	103	0	139	574
SENP6	26054	broad.mit.edu	37	6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000447266.2	+	22	3441	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	988	Protease.				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)			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)				TCAAATGTTGTCAAAATTTTA	0.328																																						ENST00000447266.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(2962-2964)gTc>gCc		SUMO1/sentrin specific peptidase 6							85.0	79.0	81.0					6																	76423282		1804	4068	5872	SO:0001583	missense	26054	0	0					g.chr6:76423282T>C		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.2963T>C	chr6.hg19:g.76423282T>C	ENSP00000402527:p.Val988Ala	0					SENP6_ENST00000370014.3_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR	p.V988A	NM_015571.2	NP_056386.2	0	0	0	1.973144	Q9GZR1	SENP6_HUMAN		22	3441	+		all_hematologic(105;0.189)	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	1	1	hg19	c.2963T>C	CCDS47454.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089070	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.32023	1.47;1.47;1.47	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000006	T	0.37320	0.0999	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.8692	14.0535	0.64751	0.0:0.0:0.0:1.0	.	981;988	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	A	981;988;988	ENSP00000359027:V981A;ENSP00000359031:V988A;ENSP00000402527:V988A	ENSP00000359027:V981A	V	+	2	0	0	SENP6	76480002	76480002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.731000	0.62022	1.785000	0.52413	0.377000	0.23210	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_015571			71	70		359	354	1		1	1		0	0	71	0		1	1	0	26	0	129	0	71	359
MYO6	4646	broad.mit.edu	37	6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369977.3	+	34	3752	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1214					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)			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)		GATTGCCCGGCAAATGGAACT	0.463																																						ENST00000369977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3613-3615)Caa>Taa		myosin VI							134.0	133.0	133.0					6																	76623953		2203	4300	6503	SO:0001587	stop_gained	4646	0	0					g.chr6:76623953C>T	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.3613C>T	chr6.hg19:g.76623953C>T	ENSP00000358994:p.Gln1205*	0					MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	p.Q1205*	NM_004999.3	NP_004990.3	0	0	0	1.973144	Q9UM54	MYO6_HUMAN		34	3752	+		all_hematologic(105;0.189)	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Nonsense_Mutation	SNP	ENST00000369977.3	0	1	hg19	c.3613C>T	CCDS34487.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.432314	0.99404	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8031	0.96516	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1206;1182;1205;1173	.	ENSP00000358992:Q1173X	Q	+	1	0	0	MYO6	76680673	76680673	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.462000	0.80851	2.672000	0.90937	0.655000	0.94253	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	1	0	1		2	2	2	0		0	0	168		168	164	1	2.060000	-20.000000	1	0.170000	NM_004999			136	134		684	664	0		1	1		0	0	168	0		1	9.999998e-01	0	28	0	79	0	136	684
IMPG1	3617	broad.mit.edu	37	6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 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)				AGTGGTGATATACTGTAAAGC	0.502																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1672-1674)tAt>tGt		interphotoreceptor matrix proteoglycan 1							92.0	81.0	85.0					6																	76660430		2203	4300	6503	SO:0001583	missense	3617	2	121400	34				g.chr6:76660430T>C	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.1673A>G	chr6.hg19:g.76660430T>C	ENSP00000358966:p.Tyr558Cys	0					IMPG1_ENST00000369963.3_3'UTR	p.Y558C	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	0	0	0	1.973144				13	1862	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)		Missense_Mutation	SNP	ENST00000369950.3	1	1	hg19	c.1673A>G	CCDS4985.1	1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678671	0.68042	.	.	ENSG00000112706	ENST00000369950	T	0.22134	1.97	5.67	3.19	0.36642	5.67	3.19	0.36642	.	0.225394	0.31415	N	0.007695	T	0.29061	0.0722	M	0.74258	2.255	0.46061	D	0.998847	D	0.71674	0.998	P	0.62740	0.906	T	0.06427	-1.0827	10	0.59425	D	0.04	.	11.2619	0.49089	0.2428:0.0:0.0:0.7572	.	558	Q17R60	IMPG1_HUMAN	C	558	ENSP00000358966:Y558C	ENSP00000358966:Y558C	Y	-	2	0	0	IMPG1	76717150	76717150	1.000000	0.71417	0.003000	0.11579	0.467000	0.32768	4.689000	0.61723	0.374000	0.24650	0.528000	0.53228	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_001563			49	49		235	226	1		1			0	0	74	0		1	0	0	0	0	0	0	49	235
IMPG1	3617	broad.mit.edu	37	6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 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)				TGATCGGCTGTCATCTGAAGA	0.512																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(1513-1515)gAc>gGc		interphotoreceptor matrix proteoglycan 1							93.0	87.0	89.0					6																	76660589		2203	4300	6503	SO:0001583	missense	3617	0	0					g.chr6:76660589T>C	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.1514A>G	chr6.hg19:g.76660589T>C	ENSP00000358966:p.Asp505Gly	0					IMPG1_ENST00000369963.3_3'UTR	p.D505G	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	0	0	0	1.973144				13	1703	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)		Missense_Mutation	SNP	ENST00000369950.3	1	1	hg19	c.1514A>G	CCDS4985.1	1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233902	0.22626	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	5.03	2.57	0.30868	5.03	2.57	0.30868	.	0.426346	0.21631	N	0.071490	T	0.05318	0.0141	L	0.38175	1.15	0.18873	N	0.999987	B	0.12630	0.006	B	0.08055	0.003	T	0.30679	-0.9970	10	0.41790	T	0.15	.	6.2104	0.20626	0.0:0.1538:0.1359:0.7103	.	505	Q17R60	IMPG1_HUMAN	G	505	ENSP00000358966:D505G	ENSP00000358966:D505G	D	-	2	0	0	IMPG1	76717309	76717309	0.000000	0.05858	0.062000	0.19696	0.190000	0.23558	-0.053000	0.11846	0.852000	0.35287	0.528000	0.53228	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-2.164058	0	0.170000	NM_001563			51	48		210	205	0		1			0	0	45	0		1	0	0	0	0	0	0	51	210
IMPG1	3617	broad.mit.edu	37	6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T	rs200194885		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369950.3	-	3	521	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.R111Q(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)				CAGAAAGATCCGATATGCTTC	0.488																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R111Q(1)	large_intestine(1)	63						c.(331-333)cGg>cAg		interphotoreceptor matrix proteoglycan 1							92.0	83.0	86.0					6																	76744474		2203	4300	6503	SO:0001583	missense	3617	1	121412	34				g.chr6:76744474C>T	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.332G>A	chr6.hg19:g.76744474C>T	ENSP00000358966:p.Arg111Gln	0					IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	p.R111Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	0	0	0	1.973144				3	521	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)		Missense_Mutation	SNP	ENST00000369950.3	1	1	hg19	c.332G>A	CCDS4985.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.711068	0.96821	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.81163	-1.34;-1.46	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	D	0.89382	0.6699	M	0.80982	2.52	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.88377	0.2999	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	111	Q17R60	IMPG1_HUMAN	Q	111;33	ENSP00000358966:R111Q;ENSP00000358980:R33Q	.	R	-	2	0	0	IMPG1	76801194	76801194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.720000	0.93068	0.557000	0.71058	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-2.867844	1	0.170000	NM_001563			57	55		270	263	1		1			0	0	63	0		1	0	0	0	0	0	0	57	270
IRAK1BP1	134728	broad.mit.edu	37	6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	116					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318																																						ENST00000369940.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(346-348)aGg>aAg		interleukin-1 receptor-associated kinase 1 binding protein 1							101.0	110.0	107.0					6																	79595126		2203	4299	6502	SO:0001583	missense	134728	1	121402	27				g.chr6:79595126G>A	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.347G>A	chr6.hg19:g.79595126G>A	ENSP00000358956:p.Arg116Lys	0					IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	p.R116K	NM_001010844.2	NP_001010844.1	0	0	0	1.973144	Q5VVH5	IKBP1_HUMAN		2	452	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		Missense_Mutation	SNP	ENST00000369940.2	1	1	hg19	c.347G>A	CCDS34488.1	1	.	.	.	.	.	.	.	.	.	.	g	8.962	0.970850	0.18659	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.28	3.34	0.38264	5.28	3.34	0.38264	.	0.370642	0.29015	N	0.013412	T	0.06234	0.0161	N	0.12182	0.205	0.25863	N	0.983809	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	8	.	.	.	.	6.8345	0.23929	0.0998:0.178:0.7222:0.0	.	116	Q5VVH5	IKBP1_HUMAN	K	116	.	.	R	+	2	0	0	IRAK1BP1	79651845	79651845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.289000	0.51747	1.188000	0.43014	0.650000	0.86243	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.226324	1	0.170000	XM_059729			63	67		345	336	1		1	1		0	0	103	0		1	8.550032e-01	0	7	0	14	0	63	345
PHIP	55023	broad.mit.edu	37	6	79650542	79650542	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1778					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)			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)		CATCCTCATTATAGAAAGCTG	0.428																																						ENST00000275034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(5332-5334)taT>taC		pleckstrin homology domain interacting protein							586.0	577.0	580.0					6																	79650542		2203	4300	6503	SO:0001819	synonymous_variant	55023	0	0					g.chr6:79650542A>G	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.5334T>C	chr6.hg19:g.79650542A>G		0					PHIP_ENST00000479165.1_5'UTR	p.Y1778Y	NM_017934.5	NP_060404	0	0	0	1.973144	Q8WWQ0	PHIP_HUMAN		40	5501	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	1	1	hg19	c.5334T>C	CCDS4987.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000				82	81		366	362	1		1	1		0	0	90	0		1	9.999913e-01	0	24	0	53	0	82	366
PHIP	55023	broad.mit.edu	37	6	79655978	79655978	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						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)			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)		CCTTTCAGGGCTGTAAATAAA	0.328																																						ENST00000275034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.e38-1		pleckstrin homology domain interacting protein							131.0	136.0	134.0					6																	79655978		2203	4300	6503	SO:0001630	splice_region_variant	55023	0	0					g.chr6:79655978C>A	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.4371-1G>T	chr6.hg19:g.79655978C>A		0					PHIP_ENST00000479165.1_Splice_Site		NM_017934.5	NP_060404	0	0	0	1.973144	Q8WWQ0	PHIP_HUMAN		38	4538	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	1	1	hg19		CCDS4987.1	1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668108	0.67814	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PHIP	79712697	79712697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.343000	0.65976	2.941000	0.99782	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000		Intron		85	85		490	484	1		1	0	0	0	0	99	2		1	2.243438e-02	6.048371e-02	1	0	1	3	85	490
PHIP	55023	broad.mit.edu	37	6	79671415	79671415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1216	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)			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)		ACCTGTAAAACCTGTTTTCCA	0.408																																						ENST00000275034.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				68						c.(3646-3648)agG>agA		pleckstrin homology domain interacting protein							127.0	112.0	117.0					6																	79671415		2203	4300	6503	SO:0001819	synonymous_variant	55023	0	0					g.chr6:79671415C>T	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.3648G>A	chr6.hg19:g.79671415C>T		0					PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	p.R1216R	NM_017934.5	NP_060404	0	0	0	1.973144	Q8WWQ0	PHIP_HUMAN		31	3815	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	1	1	hg19	c.3648G>A	CCDS4987.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				39	39		182	180	1		1	1		0	0	44	0		1	9.931109e-01	0	9	0	30	0	39	182
PHIP	55023	broad.mit.edu	37	6	79692681	79692681	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	897	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			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)		ttttcttttcctttttaatct	0.308																																						ENST00000275034.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999650	0.990000	1.000000																										0				68						c.(2689-2691)aaG>aaA		pleckstrin homology domain interacting protein							70.0	66.0	68.0					6																	79692681		2203	4299	6502	SO:0001819	synonymous_variant	55023	0	0					g.chr6:79692681C>T	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.2691G>A	chr6.hg19:g.79692681C>T		0					PHIP_ENST00000479165.1_5'Flank	p.K897K	NM_017934.5	NP_060404	0	0	0	1.973144	Q8WWQ0	PHIP_HUMAN		23	2858	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	1	1	hg19	c.2691G>A	CCDS4987.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.089670	1	0.170000				27	25		159	148	1		1	1		0	0	51	0		9.999999e-01	9.954700e-01	0	12	0	41	0	27	159
PHIP	55023	broad.mit.edu	37	6	79724895	79724895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	476					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)			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)		TAGGATCGAACGGGTGTGGTT	0.353																																						ENST00000275034.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999933	0.990000	1.000000																										0				68						c.(1426-1428)ccG>ccA		pleckstrin homology domain interacting protein							102.0	93.0	96.0					6																	79724895		2203	4300	6503	SO:0001819	synonymous_variant	55023	0	0					g.chr6:79724895C>T	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.1428G>A	chr6.hg19:g.79724895C>T		0						p.P476P	NM_017934.5	NP_060404	0	0	0	1.973144	Q8WWQ0	PHIP_HUMAN		15	1595	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	1	1	hg19	c.1428G>A	CCDS4987.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000				35	35		202	200	1		1	1		0	0	56	0		1	9.359889e-01	0	10	0	19	0	35	202
LCA5	167691	broad.mit.edu	37	6	80197365	80197365	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	484					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)			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)		GGGTATTTTAGATTTCGAGAA	0.388																																						ENST00000392959.1	0.670000	0.350000	5.900000e-01	4.100000e-01	0.490000	0.508395	0.490000	0.500000																										0				32						c.(1450-1452)Cta>Tta		Leber congenital amaurosis 5							141.0	141.0	141.0					6																	80197365		2203	4299	6502	SO:0001819	synonymous_variant	167691	0	0					g.chr6:80197365G>A		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.1450C>T	chr6.hg19:g.80197365G>A		0					LCA5_ENST00000369846.4_Silent_p.L484L	p.L484L	NM_181714.3	NP_859065.2	0	0	0	1.973144	Q86VQ0	LCA5_HUMAN		9	2061	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	1	1	hg19	c.1450C>T	CCDS4990.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-4.571931	1	0.170000	NM_181714			34	34		759	743	0		1	0		0	0	131	0		1	3.338628e-01	0	1	0	26	0	34	759
LCA5	167691	broad.mit.edu	37	6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000467898.3_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	401					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)			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)		TCCTGTTTTACGACATGGAGT	0.403																																						ENST00000392959.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(1201-1203)Gta>Ata		Leber congenital amaurosis 5		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	160.0	162.0		1201,1201	0.6	0.0	6	dbSNP_134	162	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LCA5	NM_001122769.2,NM_181714.3	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	401/698,401/698	80198831	3,13003	2203	4300	6503	SO:0001583	missense	167691	11	121412	45				g.chr6:80198831C>T		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.1201G>A	chr6.hg19:g.80198831C>T	ENSP00000376686:p.Val401Ile	0					LCA5_ENST00000369846.4_Missense_Mutation_p.V401I|LCA5_ENST00000467898.3_Missense_Mutation_p.V401I	p.V401I	NM_181714.3	NP_859065.2	0	0	0	1.973144	Q86VQ0	LCA5_HUMAN		8	1812	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	1	1	hg19	c.1201G>A	CCDS4990.1	1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634144	0.14322	2.27E-4	2.33E-4	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.29	0.64	0.17752	5.29	0.64	0.17752	.	1.834740	0.02223	N	0.064199	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.14062	-1.0486	10	0.33940	T	0.23	-1.0538	4.2696	0.10780	0.2156:0.3739:0.0:0.4106	.	401	Q86VQ0	LCA5_HUMAN	I	401	ENSP00000358861:V401I;ENSP00000376686:V401I	ENSP00000358861:V401I	V	-	1	0	0	LCA5	80255550	80255550	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-0.074000	0.11450	0.115000	0.18071	-0.123000	0.14984	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	0	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_181714			77	77		483	471	1		1	1		0	0	85	0		1	9.805900e-01	0	10	0	31	0	77	483
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000369798.2	+	9	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000230510.3_Missense_Mutation_p.N326H|TTK_ENST00000509894.1_Missense_Mutation_p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	326					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.N310H(1)|p.N326H(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)		TGAATTAAGAAATTTAAAGGT	0.358																																						ENST00000369798.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.N310H(1)|p.N326H(1)	lung(2)	53						c.(976-978)Aat>Cat		TTK protein kinase							74.0	87.0	82.0					6																	80723075		2202	4294	6496	SO:0001583	missense	7272	0	0					g.chr6:80723075A>C		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.976A>C	chr6.hg19:g.80723075A>C	ENSP00000358813:p.Asn326His	0					TTK_ENST00000509894.1_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H	p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	0	0	0	1.973144	P33981	TTK_HUMAN		9	1087	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	1	1	hg19	c.976A>C	CCDS4993.1	1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	0	TTK	80779794	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				187	185		686	671	1		1	1		0	0	80	0		1	8.343826e-01	0	3	0	11	0	187	686
BCKDHB	594	broad.mit.edu	37	6	80912929	80912929	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000356489.5_Splice_Site_p.K317N|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	317					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368																																						ENST00000320393.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(949-951)aaG>aaT		branched chain keto acid dehydrogenase E1, beta polypeptide							115.0	115.0	115.0					6																	80912929		2203	4300	6503	SO:0001630	splice_region_variant	594	0	0					g.chr6:80912929G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.951+1G>T	chr6.hg19:g.80912929G>T		0					BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Splice_Site_p.K317N	p.K317N	NM_183050.2	NP_898871.1	0	0	0	1.973144	P21953	ODBB_HUMAN		8	998	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	Q5T2J3|Q9BQL0	Splice_Site	SNP	ENST00000320393.6	1	0	hg19	c.951G>T	CCDS4994.1	1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743814	0.30865	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91295	-2.82;-2.82	5.92	5.06	0.68205	5.92	5.06	0.68205	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.043164	0.85682	D	0.000000	T	0.72787	0.3504	N	0.20328	0.56	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.69383	-0.5160	10	0.25751	T	0.34	-18.8136	11.0312	0.47774	0.0849:0.0:0.9151:0.0	.	317	P21953	ODBB_HUMAN	N	317;317;247	ENSP00000318351:K317N;ENSP00000348880:K317N	ENSP00000318351:K317N	K	+	3	2	2	BCKDHB	80969648	80969648	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.117000	0.77129	1.518000	0.48934	-0.136000	0.14681	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-2.731396	1	0.170000	NM_000056	Missense_Mutation		58	55		302	292	1		1	1		0	0	89	0		1	9.968434e-01	0	4	0	44	0	58	302
DOPEY1	23033	broad.mit.edu	37	6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	89					protein transport (GO:0015031)					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)		ACATATGAAATTATCTTCAAA	0.338																																						ENST00000349129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(265-267)aTt>aGt		dopey family member 1							152.0	166.0	161.0					6																	83810551		2203	4300	6503	SO:0001583	missense	23033	0	0					g.chr6:83810551T>G	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.266T>G	chr6.hg19:g.83810551T>G	ENSP00000195654:p.Ile89Ser	0					DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	p.I89S	NM_015018.3	NP_055833.2	0	0	0	1.973144	Q5JWR5	DOP1_HUMAN		4	526	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	1	1	hg19	c.266T>G	CCDS4996.1	1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890540	0.72524	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.24538	1.87;1.86;1.85	5.17	5.17	0.71159	5.17	5.17	0.71159	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.997	T	0.02885	-1.1098	10	0.32370	T	0.25	.	15.285	0.73822	0.0:0.0:0.0:1.0	.	89;89;89	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	89	ENSP00000195654:I89S;ENSP00000237163:I89S;ENSP00000358754:I89S	ENSP00000237163:I89S	I	+	2	0	0	DOPEY1	83867270	83867270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.602000	0.82796	2.071000	0.62044	0.482000	0.46254	ATT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1		2	2	2	0		0	0	241		241	240	1	2.060000	-20.000000	1	0.170000	NM_015018			211	209		967	949	1		1	0		0	0	241	0		1	7.053322e-01	0	1	0	12	0	211	967
DOPEY1	23033	broad.mit.edu	37	6	83848714	83848714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000237163.5_Silent_p.H1632H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.H1642H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1651					protein transport (GO:0015031)					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)		TGCATCAGCACTGTGCATGTA	0.458																																						ENST00000349129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(4951-4953)caC>caT		dopey family member 1							139.0	114.0	122.0					6																	83848714		2203	4300	6503	SO:0001819	synonymous_variant	23033	0	0					g.chr6:83848714C>T	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.4953C>T	chr6.hg19:g.83848714C>T		0					DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.H1632H	p.H1651H	NM_015018.3	NP_055833.2	0	0	0	1.973144	Q5JWR5	DOP1_HUMAN		21	5213	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	1	1	hg19	c.4953C>T	CCDS4996.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-4.520658	1	0.170000	NM_015018			88	86		293	291	0		1	1		0	0	85	0		1	9.994727e-01	0	7	0	33	0	88	293
DOPEY1	23033	broad.mit.edu	37	6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2211					protein transport (GO:0015031)					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)		TCTCCGTTTGCCACAGGTGCC	0.393																																						ENST00000349129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(6631-6633)Cca>Tca		dopey family member 1							150.0	137.0	141.0					6																	83866927		2203	4300	6503	SO:0001583	missense	23033	0	0					g.chr6:83866927C>T	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.6631C>T	chr6.hg19:g.83866927C>T	ENSP00000195654:p.Pro2211Ser	0					DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	p.P2211S	NM_015018.3	NP_055833.2	0	0	0	1.973144	Q5JWR5	DOP1_HUMAN		35	6891	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	1	1	hg19	c.6631C>T	CCDS4996.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428600	0.43122	.	.	ENSG00000083097	ENST00000349129	T	0.39592	1.07	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.35487	1.065	0.80722	D	1	B;P;B	0.39665	0.107;0.682;0.086	B;B;B	0.33890	0.017;0.172;0.013	T	0.02797	-1.1109	10	0.25751	T	0.34	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2102;2202;2211	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	2211	ENSP00000195654:P2211S	ENSP00000195654:P2211S	P	+	1	0	0	DOPEY1	83923646	83923646	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015018			80	80		380	376	1		1	1		0	0	77	0		1	9.994756e-01	0	11	0	44	0	80	380
DOPEY1	23033	broad.mit.edu	37	6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000349129.2	+	39	7428	c.7168G>A	c.(7168-7170)Gtg>Atg	p.V2390M	DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2390					protein transport (GO:0015031)					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)		CATCTGCACCGTGCGCAGTAT	0.512																																						ENST00000349129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(7168-7170)Gtg>Atg		dopey family member 1							63.0	56.0	58.0					6																	83877656		2203	4300	6503	SO:0001583	missense	23033	2	121412	33				g.chr6:83877656G>A	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.7168G>A	chr6.hg19:g.83877656G>A	ENSP00000195654:p.Val2390Met	0					DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000512866.1_Intron	p.V2390M	NM_015018.3	NP_055833.2	0	0	0	1.973144	Q5JWR5	DOP1_HUMAN		39	7428	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	1	1	hg19	c.7168G>A	CCDS4996.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401973	0.25291	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.51574	0.7;1.68	5.76	4.88	0.63580	5.76	4.88	0.63580	.	0.118362	0.56097	N	0.000021	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15473	0.013;0.011;0.011	B;B;B	0.08055	0.003;0.003;0.003	T	0.07481	-1.0770	10	0.54805	T	0.06	.	9.5589	0.39357	0.1621:0.0:0.8379:0.0	.	2281;2381;2390	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	M	2390;2294;2294	ENSP00000195654:V2390M;ENSP00000237163:V2294M	ENSP00000237163:V2294M	V	+	1	0	0	DOPEY1	83934375	83934375	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	4.475000	0.60210	1.413000	0.46997	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015018			43	41		169	168	1		1	1		0	0	40	0		1	1	0	25	0	86	0	43	169
PGM3	5238	broad.mit.edu	37	6	83885690	83885690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000283977.4	-	8	1002	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000513973.1_Silent_p.G373G					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368																																						ENST00000283977.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(874-876)ggG>ggA		phosphoglucomutase 3							129.0	117.0	121.0					6																	83885690		2203	4300	6503	SO:0001819	synonymous_variant	5238	0	0					g.chr6:83885690C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.876G>A	chr6.hg19:g.83885690C>T		0					PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000513973.1_Silent_p.G373G|PGM3_ENST00000512866.1_Silent_p.G373G	p.G292G			0	0	0	1.973144				8	1002	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		Silent	SNP	ENST00000283977.4	1	1	hg19	c.876G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_015599			48	48		211	209	1		1	1		0	0	63	0		1	1	0	36	0	86	0	48	211
ME1	4199	broad.mit.edu	37	6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	407					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)			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)		AGTTGGATTACTCAAAGCAAA	0.333																																						ENST00000369705.3	0.880000	0.300000	7.200000e-01	4.100000e-01	0.550000	0.573134	0.550000	0.530000																										0				36						c.(1219-1221)aGt>aAt		malic enzyme 1, NADP(+)-dependent, cytosolic							82.0	78.0	79.0					6																	83937109		2203	4300	6503	SO:0001583	missense	4199	0	0					g.chr6:83937109C>T	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.1220G>A	chr6.hg19:g.83937109C>T	ENSP00000358719:p.Ser407Asn	0					ME1_ENST00000543031.1_Missense_Mutation_p.S332N|ME1_ENST00000541327.1_Missense_Mutation_p.S241N	p.S407N	NM_002395.4	NP_002386.1	0	0	0	1.973144	P48163	MAOX_HUMAN		11	1336	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	1	1	hg19	c.1220G>A	CCDS34492.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.402015	0.96030	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.96	5.96	0.96718	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87963	0.2731	10	0.87932	D	0	-25.9458	20.4144	0.99026	0.0:1.0:0.0:0.0	.	407	P48163	MAOX_HUMAN	N	407;67;241;332	ENSP00000358719:S407N;ENSP00000439912:S241N;ENSP00000446114:S332N	ENSP00000358719:S407N	S	-	2	0	0	ME1	83993828	83993828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.833000	0.97629	0.555000	0.69702	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-14.408380	1	0.170000				12	12		244	242	0		1	0		0	0	58	0		9.991389e-01	6.776258e-01	0	1	0	47	0	12	244
ME1	4199	broad.mit.edu	37	6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	380					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)			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)		CCAATTGCAGCAACTCCTAAT	0.368																																						ENST00000369705.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				36						c.(1138-1140)Gct>Act		malic enzyme 1, NADP(+)-dependent, cytosolic							101.0	97.0	98.0					6																	83937191		2203	4300	6503	SO:0001583	missense	4199	0	0					g.chr6:83937191C>T	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.1138G>A	chr6.hg19:g.83937191C>T	ENSP00000358719:p.Ala380Thr	0					ME1_ENST00000543031.1_Missense_Mutation_p.A305T|ME1_ENST00000541327.1_Missense_Mutation_p.A214T	p.A380T	NM_002395.4	NP_002386.1	0	0	0	1.973144	P48163	MAOX_HUMAN		11	1254	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	1	1	hg19	c.1138G>A	CCDS34492.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.107717	0.94292	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.87	5.87	0.94306	5.87	5.87	0.94306	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.55990	1.75	0.80722	D	1	D	0.54207	0.965	P	0.46629	0.522	T	0.05550	-1.0878	10	0.62326	D	0.03	-22.7069	20.1944	0.98239	0.0:1.0:0.0:0.0	.	380	P48163	MAOX_HUMAN	T	380;40;214;305	ENSP00000358719:A380T;ENSP00000439912:A214T;ENSP00000446114:A305T	ENSP00000358719:A380T	A	-	1	0	0	ME1	83993910	83993910	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.628000	0.83189	2.777000	0.95525	0.555000	0.69702	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1	1	0	0		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000				59	58		363	361	1		1	1		0	0	84	0		1	9.466666e-01	0	2	0	30	0	59	363
PRSS35	167681	broad.mit.edu	37	6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A	rs375255168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000369700.3	+	2	1336	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	387	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498																																						ENST00000369700.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1159-1161)Gtt>Att		protease, serine, 35		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73.0	57.0	63.0		1159,1159	5.9	1.0	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS35	NM_001170423.1,NM_153362.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	387/414,387/414	84234319	1,13005	2203	4300	6503	SO:0001583	missense	167681	0	0					g.chr6:84234319G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1159G>A	chr6.hg19:g.84234319G>A	ENSP00000358714:p.Val387Ile	0					PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	p.V387I	NM_153362.2	NP_699193.2	0	0	0	1.973144	Q8N3Z0	PRS35_HUMAN		2	1336	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	1	1	hg19	c.1159G>A	CCDS4999.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.210808	0.95069	0.0	1.16E-4	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	5.91	0.95273	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65113	-0.6247	10	0.72032	D	0.01	-20.4384	20.2946	0.98546	0.0:0.0:1.0:0.0	.	387	Q8N3Z0	PRS35_HUMAN	I	387	ENSP00000440870:V387I;ENSP00000358714:V387I	ENSP00000358714:V387I	V	+	1	0	0	PRSS35	84291038	84291038	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_153362			52	52		228	225	1		1	0		0	0	46	0		1	1.637050e-01	0	0	0	4	0	52	228
SNAP91	9892	broad.mit.edu	37	6	84269857	84269857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84269857G>T	ENST00000439399.2	-	28	2913	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	SNAP91_ENST00000428679.2_Missense_Mutation_p.P866H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	866	Pro-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)			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)		TCCAAAGGGGGGCCTCATCAT	0.517																																						ENST00000439399.2	0.510000	0.140000	4.000000e-01	2.000000e-01	0.290000	0.309711	0.290000	0.280000																										0				37						c.(2596-2598)cCc>cAc		synaptosomal-associated protein, 91kDa							69.0	70.0	70.0					6																	84269857		1957	4149	6106	SO:0001583	missense	9892	0	0					g.chr6:84269857G>T	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.2597C>A	chr6.hg19:g.84269857G>T	ENSP00000400459:p.Pro866His	0					SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000428679.2_Missense_Mutation_p.P866H	p.P866H	NM_014841.2	NP_055656.1	0	0	0	1.973144	O60641	AP180_HUMAN		28	2913	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	0	1	hg19	c.2597C>A	CCDS47455.1	0	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632886	0.87660	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.39406	1.37;1.36;1.36;1.37;1.36;1.67;1.36;1.36;1.67;1.08	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.098291	0.64402	D	0.000001	T	0.63331	0.2502	M	0.79123	2.44	0.39244	D	0.963901	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.996;0.996;0.996	T	0.66775	-0.5838	10	0.87932	D	0	-11.0891	19.9525	0.97208	0.0:0.0:1.0:0.0	.	742;559;836;866;864	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	H	861;866;866;861;866;559;836;866;559;207	ENSP00000429776:P861H;ENSP00000358708:P866H;ENSP00000400459:P866H;ENSP00000195649:P861H;ENSP00000412492:P866H;ENSP00000413277:P559H;ENSP00000428511:P836H;ENSP00000428215:P866H;ENSP00000428026:P559H;ENSP00000430255:P207H	ENSP00000195649:P861H	P	-	2	0	0	SNAP91	84326576	84326576	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.900000	0.87376	2.719000	0.93026	0.655000	0.94253	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-3.251496	1	0.170000				9	8		359	343	0		1	0		0	0	68	0		9.930043e-01	0	0	0	0	1	0	9	359
SNAP91	9892	broad.mit.edu	37	6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A	rs186370272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000439399.2	-	16	1575	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	420	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)			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)		AGAAGCTGAGGCAGTTGCAAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.001	False		,,,				2504	0.0					ENST00000439399.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				37						c.(1258-1260)gCc>gTc		synaptosomal-associated protein, 91kDa							103.0	103.0	103.0					6																	84311055		1959	4148	6107	SO:0001583	missense	9892	26	120880	42				g.chr6:84311055G>A	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.1259C>T	chr6.hg19:g.84311055G>A	ENSP00000400459:p.Ala420Val	0					SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V	p.A420V	NM_014841.2	NP_055656.1	0	0	0	1.973144	O60641	AP180_HUMAN		16	1575	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	1	1	hg19	c.1259C>T	CCDS47455.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516264	0.44763	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.16324	2.38;2.38;2.38;2.38;2.35;2.37;2.38	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.531595	0.22220	N	0.062961	T	0.06462	0.0166	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34103	0.437;0.437;0.025	B;B;B	0.24541	0.037;0.054;0.021	T	0.21965	-1.0230	10	0.18276	T	0.48	-4.3839	17.8828	0.88845	0.0:0.0:1.0:0.0	.	418;420;418	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	V	420;420;420;420;420;418;420;146	ENSP00000429776:A420V;ENSP00000358708:A420V;ENSP00000400459:A420V;ENSP00000195649:A420V;ENSP00000412492:A420V;ENSP00000428511:A418V;ENSP00000428215:A420V	ENSP00000195649:A420V	A	-	2	0	0	SNAP91	84367774	84367774	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	8.735000	0.91549	2.570000	0.86706	0.563000	0.77884	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-3.555518	1	0.170000				31	29		121	118	1		1	0		0	0	28	0		1	0	0	0	0	1	0	31	121
SNAP91	9892	broad.mit.edu	37	6	84417642	84417642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	ENST00000439399.2	-	2	321	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_ENST00000428679.2_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	2					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)			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)		CGTTTGGCCCGACATCTTCTG	0.587																																						ENST00000439399.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(4-6)tCg>tTg		synaptosomal-associated protein, 91kDa							53.0	58.0	56.0					6																	84417642		1981	4164	6145	SO:0001583	missense	9892	0	0					g.chr6:84417642G>A	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.5C>T	chr6.hg19:g.84417642G>A	ENSP00000400459:p.Ser2Leu	0					SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000428679.2_Missense_Mutation_p.S2L	p.S2L	NM_014841.2	NP_055656.1	0	0	0	1.973144	O60641	AP180_HUMAN		2	321	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	0	1	hg19	c.5C>T	CCDS47455.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986026	0.93044	.	.	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	0.37411	1.87;1.87;1.87;1.87;1.86;2.13;1.94;1.87;2.13;1.2	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.118037	0.64402	D	0.000011	T	0.56307	0.1976	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75484	0.986;0.968;0.968	T	0.61153	-0.7120	10	0.87932	D	0	-3.8263	19.0968	0.93255	0.0:0.0:1.0:0.0	.	2;2;2	O60641-3;E5RI02;E1P549	.;.;.	L	2	ENSP00000429776:S2L;ENSP00000358708:S2L;ENSP00000400459:S2L;ENSP00000195649:S2L;ENSP00000412492:S2L;ENSP00000413277:S2L;ENSP00000428511:S2L;ENSP00000428215:S2L;ENSP00000428026:S2L;ENSP00000430071:S2L	ENSP00000195649:S2L	S	-	2	0	0	SNAP91	84474361	84474361	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.860000	0.99555	2.516000	0.84829	0.462000	0.41574	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	1	0	1		2	2	2	0		0	0	30		30	28	1	2.060000	-20.000000	1	0.170000				60	60		187	179	0		1	0		0	0	30	0		1	2.541545e-01	0	0	0	4	0	60	187
RIPPLY2	134701	broad.mit.edu	37	6	84566960	84566960	+	Splice_Site	SNP	G	G	A	rs374534967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		RIPPLY2_ENST00000369687.1_Splice_Site|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289																																						ENST00000369689.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				7						c.e4-1		ripply transcriptional repressor 2		G		0,4404		0,0,2202	62.0	67.0	65.0			5.5	1.0	6		65	1,8589	1.2+/-3.3	0,1,4294	no	splice-3	RIPPLY2	NM_001009994.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077			84566960	1,12993	2202	4295	6497	SO:0001630	splice_region_variant	134701	1	121394	30				g.chr6:84566960G>A	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.240-1G>A	chr6.hg19:g.84566960G>A		0					CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Splice_Site|CYB5R4_ENST00000369679.4_5'Flank		NM_001009994.1	NP_001009994.1	0	0	0	1.973144	Q5TAB7	RIPP2_HUMAN		4	390	+			Q5TAB6	Splice_Site	SNP	ENST00000369689.1	1	1	hg19		CCDS34493.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	0.0	1.16E-4	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RIPPLY2	84623679	84623679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.729000	0.91490	2.879000	0.98667	0.650000	0.86243	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-19.998740	1	0.170000	NM_001009994	Intron		44	44		227	224	1		1			0	0	83	0		1	0	0	0	0	0	0	44	227
MRAP2	112609	broad.mit.edu	37	6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	97					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433																																						ENST00000257776.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(289-291)Cct>Act		melanocortin 2 receptor accessory protein 2							89.0	90.0	90.0					6																	84798871		2203	4300	6503	SO:0001583	missense	112609	0	0					g.chr6:84798871C>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.289C>A	chr6.hg19:g.84798871C>A	ENSP00000257776:p.Pro97Thr	0						p.P97T	NM_138409.2	NP_612418.2	0	0	0	1.973144	Q96G30	MRAP2_HUMAN		4	424	+			A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	1	1	hg19	c.289C>A	CCDS5001.1	1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785756	0.70337	.	.	ENSG00000135324	ENST00000257776	D	0.88741	-2.42	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.274181	0.36034	N	0.002832	T	0.77877	0.4196	L	0.38531	1.155	0.42806	D	0.99394	B	0.30851	0.297	B	0.27262	0.078	T	0.80254	-0.1459	10	0.56958	D	0.05	-5.0941	13.9655	0.64207	0.1516:0.8483:0.0:0.0	.	97	Q96G30	MRAP2_HUMAN	T	97	ENSP00000257776:P97T	ENSP00000257776:P97T	P	+	1	0	0	MRAP2	84855590	84855590	0.986000	0.35501	0.992000	0.48379	0.996000	0.88848	3.005000	0.49521	2.589000	0.87451	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_138409			102	99		364	356	1		1	1		0	0	87	0		1	9.999293e-01	0	19	0	33	0	102	364
CEP162	22832	broad.mit.edu	37	6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	NM_014895.2	NP_055710.2														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)		CATACTTGTCGCTCCAGATCC	0.373																																						ENST00000403245.3	1.000000	0.720000	1	8.600000e-01	0.990000	0.951087	0.990000	1.000000																										0				43						c.(2776-2778)Cga>Tga									159.0	154.0	156.0					6																	84870536		2202	4300	6502	SO:0001587	stop_gained	0	3	121396	34				g.chr6:84870536G>A																												ENST00000403245.3:c.2776C>T	chr6.hg19:g.84870536G>A	ENSP00000385215:p.Arg926*	0					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	p.R926*	NM_014895.2	NP_055710.2	0	0	0	1.973144				21	2890	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		Nonsense_Mutation	SNP	ENST00000403245.3	0	1	hg19	c.2776C>T	CCDS34494.2	1	.	.	.	.	.	.	.	.	.	.	G	42	9.529168	0.99196	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.87	4.01	0.46588	5.87	4.01	0.46588	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9369	14.7397	0.69445	0.0:0.0:0.7178:0.2822	.	.	.	.	X	850;926	.	ENSP00000257766:R850X	R	-	1	2	2	KIAA1009	84927255	84927255	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.088000	0.50175	0.735000	0.32537	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-10.862720	1	0.170000				33	32		340	333	0		1	0		0	0	59	0		1	3.654748e-01	0	1	0	13	0	33	340
CEP162	22832	broad.mit.edu	37	6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	NM_014895.2	NP_055710.2														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)		TTCTGATTTCTTGTGGGCTCT	0.318																																						ENST00000403245.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998418	0.990000	1.000000																										0				43						c.(2338-2340)Aga>Gga									73.0	68.0	70.0					6																	84879094		2202	4299	6501	SO:0001583	missense	0	0	0					g.chr6:84879094T>C																												ENST00000403245.3:c.2338A>G	chr6.hg19:g.84879094T>C	ENSP00000385215:p.Arg780Gly	0					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	p.R780G	NM_014895.2	NP_055710.2	0	0	0	1.973144				18	2452	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		Missense_Mutation	SNP	ENST00000403245.3	0	1	hg19	c.2338A>G	CCDS34494.2	1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520900	0.44866	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32515	1.45;1.45	5.96	4.79	0.61399	5.96	4.79	0.61399	.	0.320498	0.31167	N	0.008138	T	0.14184	0.0343	L	0.40543	1.245	0.25363	N	0.988764	P	0.39480	0.675	B	0.43658	0.426	T	0.13229	-1.0517	10	0.20519	T	0.43	-7.1047	12.6876	0.56956	0.0:0.0:0.1379:0.8621	.	780	Q5TB80	QN1_HUMAN	G	704;780	ENSP00000257766:R704G;ENSP00000385215:R780G	ENSP00000257766:R704G	R	-	1	2	2	KIAA1009	84935813	84935813	0.881000	0.30235	0.732000	0.30844	0.971000	0.66376	3.972000	0.56838	1.064000	0.40671	0.460000	0.39030	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-10.583100	1	0.170000				9	9		25	25	1		1	0		0	0	9	0		9.963489e-01	8.495632e-01	0	0	0	12	0	9	25
TBX18	9096	broad.mit.edu	37	6	85473690	85473690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_ENST00000606784.1_5'Flank|TBX18_ENST00000606521.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					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)			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)		CAGCGCCTTCGTCTCCCTCAG	0.756																																						ENST00000369663.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				61						c.(208-210)gaC>gaT		T-box 18							4.0	5.0	5.0					6																	85473690		1979	3992	5971	SO:0001819	synonymous_variant	9096	3	116040	25				g.chr6:85473690G>A	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.210C>T	chr6.hg19:g.85473690G>A		0					TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	p.D70D	NM_001080508.1	NP_001073977.1	0	0	0	1.973144	O95935	TBX18_HUMAN		1	547	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	0	1	hg19	c.210C>T	CCDS34495.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	1	0	0		2	2	2	0		0	0	8		8	6	1	2.060000	-20.000000	1	0.170000	NM_001080508			18	17		45	44	0		1			0	0	8	0		9.999923e-01	0	0	0	0	0	0	18	45
NT5E	4907	broad.mit.edu	37	6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	321					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)			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)	CAAGCATAAAAGCAGACATTA	0.363																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(961-963)aaA>aaT		5'-nucleotidase, ecto (CD73)	Cytarabine(DB00987)|Pentoxifylline(DB00806)						88.0	91.0	90.0					6																	86197066		2203	4300	6503	SO:0001583	missense	4907	0	0					g.chr6:86197066A>T	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.963A>T	chr6.hg19:g.86197066A>T	ENSP00000257770:p.Lys321Asn	0					NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	p.K321N	NM_002526.3	NP_002517.1	0	0	0	1.973144	P21589	5NTD_HUMAN		5	1012	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	1	1	hg19	c.963A>T	CCDS5002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.08|16.08	3.022934|3.022934	0.54683|0.54683	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	T;T|T;T	0.57752|0.56776	0.45;0.38|0.44;0.45	5.38|5.38	4.22|4.22	0.49857|0.49857	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.169287|0.169287	0.52532|0.52532	D|D	0.000063|0.000063	T|T	0.37293|0.37293	0.0998|0.0998	M|M	0.64997|0.64997	1.995|1.995	0.40974|0.40974	D|D	0.984722|0.984722	.|P;P	.|0.42735	.|0.788;0.67	.|P;B	.|0.45474	.|0.482;0.381	T|T	0.19877|0.19877	-1.0292|-1.0292	8|10	0.46703|0.25106	T|T	0.11|0.35	-25.9351|-25.9351	9.7274|9.7274	0.40339|0.40339	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|321;321	.|B3KQI8;P21589	.|.;5NTD_HUMAN	M|N	86;17|97;321;321	ENSP00000414674:K86M;ENSP00000387630:K17M|ENSP00000257770:K321N;ENSP00000358665:K321N	ENSP00000414674:K86M|ENSP00000257770:K321N	K|K	+|+	2|3	0|2	0|2	NT5E|NT5E	86253785|86253785	86253785|86253785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.070000|3.070000	0.50033|0.50033	0.894000|0.894000	0.36317|0.36317	0.455000|0.455000	0.32223|0.32223	AAG|AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				71	70		309	300	1		1	1		0	0	71	0		1	1	0	17	0	124	0	71	309
SNX14	57231	broad.mit.edu	37	6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	831					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			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)		TTACACTGAAGATAGTAATCA	0.383																																						ENST00000314673.3	1.000000	0.430000	8.500000e-01	5.500000e-01	0.690000	0.706270	0.690000	1.000000																										0				22						c.(2491-2493)Ctt>Att		sorting nexin 14							108.0	112.0	110.0					6																	86223854		2203	4300	6503	SO:0001583	missense	57231	0	0					g.chr6:86223854G>T	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.2491C>A	chr6.hg19:g.86223854G>T	ENSP00000313121:p.Leu831Ile	0					SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I	p.L831I	NM_153816.3	NP_722523.1	0	0	0	1.973144	Q9Y5W7	SNX14_HUMAN		25	2667	-		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)	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	1	1	hg19	c.2491C>A	CCDS5004.1	0	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264596	0.40095	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.03	5.15	0.70609	6.03	5.15	0.70609	Sorting nexin, C-terminal (1);	0.124399	0.56097	N	0.000029	T	0.05777	0.0151	N	0.21448	0.665	0.45899	D	0.998745	B;B;B;B	0.15473	0.007;0.013;0.009;0.007	B;B;B;B	0.19148	0.007;0.024;0.02;0.011	T	0.23940	-1.0174	10	0.02654	T	1	-7.3699	7.0157	0.24887	0.1384:0.0:0.7116:0.15	.	822;778;831;779	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	778;831;550;779;822;749	ENSP00000257769:L778I;ENSP00000313121:L831I;ENSP00000420938:L550I;ENSP00000427380:L779I;ENSP00000358641:L822I;ENSP00000425630:L749I	ENSP00000313121:L831I	L	-	1	0	0	SNX14	86280573	86280573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	1.532000	0.49169	0.555000	0.69702	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-3.317605	1	0.170000	NM_153816			20	20		317	308	0		1	1		0	0	99	0		9.999944e-01	9.998551e-01	0	6	0	223	0	20	317
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	349	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)			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)		TTCATAAAACGAAATAAAAGA	0.338																																						ENST00000314673.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999153	0.990000	1.000000																										0				22						c.(1045-1047)Cgt>Tgt		sorting nexin 14							90.0	80.0	84.0					6																	86256893		2203	4300	6503	SO:0001583	missense	57231	7	121410	33				g.chr6:86256893G>A	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.1045C>T	chr6.hg19:g.86256893G>A	ENSP00000313121:p.Arg349Cys	0					SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C	p.R349C	NM_153816.3	NP_722523.1	0	0	0	1.973144	Q9Y5W7	SNX14_HUMAN		12	1221	-		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)	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	1	1	hg19	c.1045C>T	CCDS5004.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368792	0.82463	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59	5.39	4.52	0.55395	5.39	4.52	0.55395	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.096864	0.64402	D	0.000001	T	0.04907	0.0132	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;D;P	0.65987	0.901;0.901;0.94;0.857	T	0.37641	-0.9697	10	0.45353	T	0.12	-10.6131	13.9387	0.64041	0.0727:0.0:0.9273:0.0	.	349;305;349;297	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	305;349;349;297;349;276	ENSP00000257769:R305C;ENSP00000313121:R349C;ENSP00000420938:R349C;ENSP00000427380:R297C;ENSP00000358641:R349C;ENSP00000425630:R276C	ENSP00000313121:R349C	R	-	1	0	0	SNX14	86313612	86313612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.659000	0.83766	1.279000	0.44446	0.655000	0.94253	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.226269	1	0.170000	NM_153816			27	26		173	169	1		1	1		0	0	36	0		1	9.999957e-01	0	34	0	98	0	27	173
SNX14	57231	broad.mit.edu	37	6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	242	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			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)		CTTAAATAGTGCAATTCATCT	0.333																																						ENST00000314673.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(724-726)Cac>Tac		sorting nexin 14							90.0	95.0	94.0					6																	86259508		2203	4300	6503	SO:0001583	missense	57231	0	0					g.chr6:86259508G>A	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.724C>T	chr6.hg19:g.86259508G>A	ENSP00000313121:p.His242Tyr	0					SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y	p.H242Y	NM_153816.3	NP_722523.1	0	0	0	1.973144	Q9Y5W7	SNX14_HUMAN		8	900	-		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)	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	1	1	hg19	c.724C>T	CCDS5004.1	1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564490	0.13498	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.96;1.92;1.5;1.94;1.92;1.93	5.39	5.39	0.77823	5.39	5.39	0.77823	Phox-associated domain (2);	0.169061	0.50627	D	0.000120	T	0.11922	0.0290	N	0.22421	0.69	0.37448	D	0.914689	B;B;B;B	0.28291	0.009;0.206;0.018;0.004	B;B;B;B	0.27076	0.029;0.076;0.049;0.029	T	0.05971	-1.0853	10	0.59425	D	0.04	-4.7065	12.4906	0.55897	0.0765:0.0:0.9235:0.0	.	242;198;242;190	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	Y	198;242;242;190;242;169	ENSP00000257769:H198Y;ENSP00000313121:H242Y;ENSP00000420938:H242Y;ENSP00000427380:H190Y;ENSP00000358641:H242Y;ENSP00000425630:H169Y	ENSP00000313121:H242Y	H	-	1	0	0	SNX14	86316227	86316227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.306000	0.65756	2.539000	0.85634	0.484000	0.47621	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_153816			63	62		323	318	1		1	1		0	0	55	0		1	1	0	36	0	127	0	63	323
SYNCRIP	10492	broad.mit.edu	37	6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000369622.3	-	6	1117	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A206V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	206	RRM 1. {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)			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)		AGTGACAAACGCATAACCTCT	0.393																																						ENST00000369622.3	0.770000	0.330000	6.500000e-01	4.200000e-01	0.530000	0.544490	0.530000	0.520000																										0				33						c.(616-618)gCg>gTg		synaptotagmin binding, cytoplasmic RNA interacting protein							85.0	82.0	83.0					6																	86346734		2203	4300	6503	SO:0001583	missense	10492	0	0					g.chr6:86346734G>A	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.617C>T	chr6.hg19:g.86346734G>A	ENSP00000358635:p.Ala206Val	0					SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A206V	p.A206V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	0	0	0	1.973144	O60506	HNRPQ_HUMAN		6	1117	-		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)	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	0	1	hg19	c.617C>T	CCDS5005.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.621423	0.96660	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.61742	0.41;0.08	5.76	5.76	0.90799	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95982	3.75	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	0.91635	0.999;0.953;0.969;0.998;0.994;0.998;0.999	D	0.87738	0.2583	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	206;206;108;54;206;206;206	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	206	ENSP00000347380:A206V;ENSP00000358635:A206V	ENSP00000347380:A206V	A	-	2	0	0	SYNCRIP	86403453	86403453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.724000	0.93272	0.650000	0.86243	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-4.220135	1	0.170000	NM_006372			20	19		421	417	0		1	0		0	0	90	0		9.999950e-01	9.999835e-01	0	1	0	386	0	20	421
CGA	1081	broad.mit.edu	37	6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	68					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493																																						ENST00000369582.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(202-204)Aag>Gag		glycoprotein hormones, alpha polypeptide							185.0	182.0	183.0					6																	87796039		2203	4300	6503	SO:0001583	missense	1081	0	0					g.chr6:87796039T>C	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.202A>G	chr6.hg19:g.87796039T>C	ENSP00000358595:p.Lys68Glu	0					RN7SKP209_ENST00000516888.1_RNA	p.K68E	NM_000735.3	NP_000726.1	0	0	0	1.973144	P01215	GLHA_HUMAN		3	302	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		Missense_Mutation	SNP	ENST00000369582.2	1	1	hg19	c.202A>G	CCDS5007.1	1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187126	0.57909	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.45	0.53987	5.62	4.45	0.53987	.	0.129166	0.64402	D	0.000001	T	0.56381	0.1981	M	0.62723	1.935	0.50039	D	0.999847	D	0.55385	0.971	P	0.54544	0.755	T	0.62101	-0.6925	9	0.62326	D	0.03	-16.9707	12.9504	0.58397	0.0:0.0:0.1354:0.8646	.	68	P01215	GLHA_HUMAN	E	68	.	ENSP00000358595:K68E	K	-	1	0	0	CGA	87852758	87852758	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.704000	0.68347	0.948000	0.37687	-0.399000	0.06403	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_000735			123	121		665	648	1		1	0		0	0	147	0		1	1.191529e-01	0	0	0	4	0	123	665
ZNF292	23036	broad.mit.edu	37	6	87968327	87968327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1660						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)		TCATAGCAAAGAGTGTTGAAA	0.363																																						ENST00000369577.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				89						c.(4978-4980)aaG>aaA		zinc finger protein 292							38.0	38.0	38.0					6																	87968327		1910	4121	6031	SO:0001819	synonymous_variant	23036	0	0					g.chr6:87968327G>A	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.4980G>A	chr6.hg19:g.87968327G>A		0					ZNF292_ENST00000339907.4_Silent_p.K1655K	p.K1660K	NM_015021.1	NP_055836.1	0	0	0	1.973144	O60281	ZN292_HUMAN		8	5023	+		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)	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	1	1	hg19	c.4980G>A	CCDS47457.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_015021			24	24		110	109	1		1	1		0	0	25	0		9.999998e-01	9.974527e-01	0	13	0	34	0	24	110
ZNF292	23036	broad.mit.edu	37	6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1799						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)		CCTTCAGTAAACACTGTGCAA	0.353																																						ENST00000369577.3	1.000000	0.510000	1	7.100000e-01	0.950000	0.885411	0.950000	1.000000																										0				89						c.(5395-5397)aAc>aGc		zinc finger protein 292							37.0	37.0	37.0					6																	87968743		1841	4092	5933	SO:0001583	missense	23036	0	0					g.chr6:87968743A>G	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.5396A>G	chr6.hg19:g.87968743A>G	ENSP00000358590:p.Asn1799Ser	0					ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	p.N1799S	NM_015021.1	NP_055836.1	0	0	0	1.973144	O60281	ZN292_HUMAN		8	5439	+		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)	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	1	1	hg19	c.5396A>G	CCDS47457.1	1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961086	0.34565	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08008	3.14;3.15	5.86	4.7	0.59300	5.86	4.7	0.59300	.	0.216097	0.37095	N	0.002260	T	0.04907	0.0132	N	0.24115	0.695	0.33391	D	0.576128	D	0.63880	0.993	P	0.51516	0.672	T	0.17868	-1.0355	10	0.72032	D	0.01	.	12.125	0.53913	0.9332:0.0:0.0668:0.0	.	1799	O60281	ZN292_HUMAN	S	1799;1794	ENSP00000358590:N1799S;ENSP00000342847:N1794S	ENSP00000342847:N1794S	N	+	2	0	0	ZNF292	88025462	88025462	0.554000	0.26522	1.000000	0.80357	0.612000	0.37316	1.086000	0.30853	1.153000	0.42468	-0.263000	0.10527	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-6.410182	1	0.170000	NM_015021			11	11		123	122	1		1	1		0	0	33	0		9.985014e-01	8.951201e-01	0	14	0	33	0	11	123
ZNF292	23036	broad.mit.edu	37	6	87970601	87970601	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	ENST00000369577.3	+	8	7297	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S	ZNF292_ENST00000339907.4_Silent_p.S2413S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2418						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)		CATTTACATCACAACACCGAA	0.343																																						ENST00000369577.3	1.000000	0.210000	9.100000e-01	3.700000e-01	0.600000	0.627592	0.600000	1.000000																										0				89						c.(7252-7254)tcA>tcC		zinc finger protein 292							43.0	40.0	41.0					6																	87970601		1870	4096	5966	SO:0001819	synonymous_variant	23036	0	0					g.chr6:87970601A>C	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.7254A>C	chr6.hg19:g.87970601A>C		0					ZNF292_ENST00000339907.4_Silent_p.S2413S	p.S2418S	NM_015021.1	NP_055836.1	0	0	0	1.973144	O60281	ZN292_HUMAN		8	7297	+		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)	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	0	1	hg19	c.7254A>C	CCDS47457.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-7.940483	1	0.170000	NM_015021			4	4		78	76	0		1	1		0	0	21	0		8.862306e-01	8.126712e-01	0	8	0	54	0	4	78
GJB7	375519	broad.mit.edu	37	6	87994334	87994334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87994334C>A	ENST00000525899.1	-	3	642	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	99					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TCTCTCTACCCTCATGATAGG	0.448																																						ENST00000525899.1	0.540000	0.170000	4.300000e-01	2.300000e-01	0.320000	0.340790	0.320000	0.320000																										0				5						c.(295-297)gaG>gaT		gap junction protein, beta 7, 25kDa							102.0	102.0	102.0					6																	87994334		2203	4300	6503	SO:0001583	missense	375519	0	0					g.chr6:87994334C>A	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.297G>T	chr6.hg19:g.87994334C>A	ENSP00000435355:p.Glu99Asp	0					GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	p.E99D	NM_198568.2	NP_940970.1	0	0	0	1.973144	Q6PEY0	CXB7_HUMAN		3	642	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	B3KXL0|Q96KP0	Missense_Mutation	SNP	ENST00000525899.1	0	1	hg19	c.297G>T	CCDS5008.1	0	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433578	0.04669	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.99121	-5.45;-5.45;-5.45	4.84	2.07	0.26955	4.84	2.07	0.26955	Connexin, N-terminal (1);	0.151148	0.40469	U	0.001090	D	0.93851	0.8033	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.24394	0.053	D	0.88918	0.3364	10	0.20519	T	0.43	.	7.5203	0.27624	0.0:0.561:0.0:0.439	.	99	Q6PEY0	CXB7_HUMAN	D	99	ENSP00000435355:E99D;ENSP00000296882:E99D;ENSP00000358589:E99D	ENSP00000296882:E99D	E	-	3	2	2	GJB7	88051053	88051053	0.819000	0.29175	0.007000	0.13788	0.004000	0.04260	0.528000	0.23002	0.113000	0.18004	-0.291000	0.09656	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1	0	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-2.600730	1	0.170000				11	10		391	378	0		1			0	0	85	0		9.980330e-01	0	0	0	0	0	0	11	391
C6orf165	154313	broad.mit.edu	37	6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	25										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)		GCAGCCCATGGAGAGATTGTT	0.333																																						ENST00000507897.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(73-75)gGa>gAa		chromosome 6 open reading frame 165							146.0	151.0	149.0					6																	88119631		2203	4300	6503	SO:0001583	missense	154313	0	0					g.chr6:88119631G>A	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.74G>A	chr6.hg19:g.88119631G>A	ENSP00000426769:p.Gly25Glu	0					C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E	p.G25E			0	0	0	1.973144	Q8IYR0	CF165_HUMAN		2	157	+		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)	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	1	1	hg19	c.74G>A	CCDS34498.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479913	0.84747	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34667	1.35;1.37	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.051960	0.85682	D	0.000000	T	0.52240	0.1722	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.907	T	0.50189	-0.8857	10	0.51188	T	0.08	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	25;25	Q8IYR0;E1P509	CF165_HUMAN;.	E	25	ENSP00000358575:G25E;ENSP00000422494:G25E	ENSP00000358575:G25E	G	+	2	0	0	C6orf165	88176350	88176350	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.803000	0.91915	2.671000	0.90904	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-3.644585	1	0.170000	NM_178823			93	90		337	331	1		1	0		0	0	91	0		1	2.090230e-01	0	0	0	4	0	93	337
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					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)			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)		GTCTTCATTCCCTGTACTACT	0.403																																						ENST00000369536.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1144-1146)Gga>Tga		arginyl-tRNA synthetase 2, mitochondrial							104.0	98.0	100.0					6																	88229394		2203	4300	6503	SO:0001587	stop_gained	57038	0	0					g.chr6:88229394C>A	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.1144G>T	chr6.hg19:g.88229394C>A	ENSP00000358549:p.Gly382*	0					RARS2_ENST00000497828.1_5'Flank	p.G382*	NM_020320.3	NP_064716.2	0	0	0	1.973144	Q5T160	SYRM_HUMAN		14	1189	-		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)	B2RDT7|Q96FU5|Q9H8K8	Nonsense_Mutation	SNP	ENST00000369536.5	0	1	hg19	c.1144G>T	CCDS5011.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.079834	0.98048	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000358549:G382X	G	-	1	0	0	RARS2	88286113	88286113	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.523875	1	0.170000	NM_020320			53	53		264	263	1		1	1		0	0	61	0		1	9.999999e-01	0	10	0	115	0	53	264
RARS2	57038	broad.mit.edu	37	6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	244					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)			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)		TCAAGTCCCGAAATTTTTGCC	0.473																																						ENST00000369536.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(730-732)ttT>ttG		arginyl-tRNA synthetase 2, mitochondrial							179.0	161.0	167.0					6																	88240541		2203	4300	6503	SO:0001583	missense	57038	0	0					g.chr6:88240541A>C	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.732T>G	chr6.hg19:g.88240541A>C	ENSP00000358549:p.Phe244Leu	0						p.F244L	NM_020320.3	NP_064716.2	0	0	0	1.973144	Q5T160	SYRM_HUMAN		9	777	-		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)	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	1	1	hg19	c.732T>G	CCDS5011.1	1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338772	0.81911	.	.	ENSG00000146282	ENST00000369536	T	0.58358	0.34	6.17	1.25	0.21368	6.17	1.25	0.21368	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.60845	1.875	0.53688	D	0.999976	P	0.47604	0.898	P	0.55391	0.775	T	0.41840	-0.9486	10	0.45353	T	0.12	.	9.2739	0.37688	0.6473:0.0:0.3527:0.0	.	244	Q5T160	SYRM_HUMAN	L	244	ENSP00000358549:F244L	ENSP00000358549:F244L	F	-	3	2	2	RARS2	88297260	88297260	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.724000	0.38064	-0.011000	0.14247	-0.274000	0.10170	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_020320			79	75		398	391	1		1	1		0	0	107	0		1	1	0	47	0	113	0	79	398
RARS2	57038	broad.mit.edu	37	6	88240658	88240658	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	205					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)			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)		CTTGTACATAAACCTAAAAGT	0.358																																						ENST00000369536.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(613-615)gtT>gtG		arginyl-tRNA synthetase 2, mitochondrial							110.0	108.0	109.0					6																	88240658		2203	4300	6503	SO:0001819	synonymous_variant	57038	0	0					g.chr6:88240658A>C	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.615T>G	chr6.hg19:g.88240658A>C		0						p.V205V	NM_020320.3	NP_064716.2	0	0	0	1.973144	Q5T160	SYRM_HUMAN		9	660	-		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)	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	1	1	hg19	c.615T>G	CCDS5011.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_020320			49	49		205	202	1		1	1		0	0	62	0		1	1	0	3	0	121	0	49	205
RARS2	57038	broad.mit.edu	37	6	88272489	88272489	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	76					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)			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)		CACTCACCACTGTATCACATC	0.338																																						ENST00000369536.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(226-228)acA>acG		arginyl-tRNA synthetase 2, mitochondrial							113.0	102.0	106.0					6																	88272489		2202	4299	6501	SO:0001819	synonymous_variant	57038	1	121402	26				g.chr6:88272489T>C	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.228A>G	chr6.hg19:g.88272489T>C		0						p.T76T	NM_020320.3	NP_064716.2	0	0	0	1.973144	Q5T160	SYRM_HUMAN		4	273	-		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)	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	1	1	hg19	c.228A>G	CCDS5011.1	1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891586	0.17613	.	.	ENSG00000146282	ENST00000451155	.	.	.	5.51	4.35	0.52113	5.51	4.35	0.52113	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43956	-0.9359	4	.	.	.	.	8.2043	0.31443	0.0:0.0906:0.0:0.9094	.	.	.	.	R	104	.	.	Q	-	2	0	0	RARS2	88329208	88329208	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.098000	0.15189	0.918000	0.36919	-0.256000	0.11100	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-19.999950	1	0.170000	NM_020320			41	40		180	176	1		1	1		0	0	82	0		1	9.999999e-01	0	41	0	75	0	41	180
SPACA1	81833	broad.mit.edu	37	6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	86					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				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)		AATGTGCACCGTTACATGTGG	0.348																																						ENST00000237201.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				20						c.(256-258)Gtt>Att		sperm acrosome associated 1							94.0	89.0	90.0					6																	88763711		2203	4300	6503	SO:0001583	missense	81833	8	121408	35				g.chr6:88763711G>A	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.256G>A	chr6.hg19:g.88763711G>A	ENSP00000237201:p.Val86Ile	0						p.V86I	NM_030960.2	NP_112222.1	0	0	0	1.973144	Q9HBV2	SACA1_HUMAN		2	373	+		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)		Missense_Mutation	SNP	ENST00000237201.1	1	1	hg19	c.256G>A	CCDS5014.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215641	0.58452	.	.	ENSG00000118434	ENST00000237201	T	0.32023	1.47	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000040	T	0.36054	0.0953	M	0.67953	2.075	0.33814	D	0.628257	D	0.65815	0.995	P	0.50570	0.644	T	0.35475	-0.9787	10	0.87932	D	0	-14.1554	18.6239	0.91331	0.0:0.0:1.0:0.0	.	86	Q9HBV2	SACA1_HUMAN	I	86	ENSP00000237201:V86I	ENSP00000237201:V86I	V	+	1	0	0	SPACA1	88820430	88820430	1.000000	0.71417	0.934000	0.37439	0.391000	0.30476	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.346261	1	0.170000				32	32		148	145	1		1			0	0	34	0		1	0	0	0	0	0	0	32	148
SPACA1	81833	broad.mit.edu	37	6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A	rs562991674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	137					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				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)		TGTTAGATTGGCATGTATTCA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000237201.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(409-411)Gca>Aca		sperm acrosome associated 1							99.0	101.0	100.0					6																	88768475		2203	4300	6503	SO:0001583	missense	81833	3	121406	32				g.chr6:88768475G>A	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.409G>A	chr6.hg19:g.88768475G>A	ENSP00000237201:p.Ala137Thr	0						p.A137T	NM_030960.2	NP_112222.1	0	0	0	1.973144	Q9HBV2	SACA1_HUMAN		4	526	+		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)		Missense_Mutation	SNP	ENST00000237201.1	1	1	hg19	c.409G>A	CCDS5014.1	1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000118434	ENST00000237201	T	0.23950	1.88	5.86	1.49	0.22878	5.86	1.49	0.22878	.	0.672852	0.14875	N	0.293339	T	0.05227	0.0139	N	0.25647	0.755	0.09310	N	1	B	0.24823	0.112	B	0.27380	0.079	T	0.36065	-0.9763	10	0.28530	T	0.3	-3.0372	4.0794	0.09919	0.0749:0.342:0.3269:0.2563	.	137	Q9HBV2	SACA1_HUMAN	T	137	ENSP00000237201:A137T	ENSP00000237201:A137T	A	+	1	0	0	SPACA1	88825194	88825194	0.001000	0.12720	0.040000	0.18447	0.769000	0.43574	0.001000	0.13038	0.760000	0.33108	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				47	45		224	220	1		1			0	0	58	0		1	0	0	0	0	0	0	47	224
CNR1	1268	broad.mit.edu	37	6	88853707	88853707	+	Silent	SNP	C	C	T	rs149238893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88853707C>T	ENST00000537554.1	-	2	4849	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	429					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)			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)	GCAGGCAGTCCGAGTCCCCCA	0.547																																						ENST00000537554.1	0.300000	0.100000	2.500000e-01	1.300000e-01	0.180000	0.196723	0.180000	0.180000																										0				37						c.(1285-1287)tcG>tcA		cannabinoid receptor 1 (brain)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	C	,,,,	0,4406		0,0,2203	191.0	173.0	179.0		1287,1287,1287,1287,1188	-3.5	0.9	6	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	429/473,429/473,429/473,429/473,396/440	88853707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1268	29	121412	49				g.chr6:88853707C>T	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.1287G>A	chr6.hg19:g.88853707C>T		0					CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000549716.1_Silent_p.S368S	p.S429S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	0	0	0	1.973144	P21554	CNR1_HUMAN		2	4849	-		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)	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	0	1	hg19	c.1287G>A	CCDS5015.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2	0	0	1		2	2	2	0		0	0	193		193	193	1	2.060000	-1.945813	0	0.170000				13	13		807	794	0		1	0		0	0	193	0		9.994792e-01	3.104185e-04	0	0	0	2	0	13	807
PNRC1	10957	broad.mit.edu	37	6	89790706	89790706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	PNRC1_ENST00000369472.1_Intron|PNRC1_ENST00000354922.3_5'Flank|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-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;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677										Multiple Myeloma(7;0.094)																												ENST00000336032.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(91-93)gcC>gcT		proline-rich nuclear receptor coactivator 1							42.0	47.0	46.0					6																	89790706		2203	4300	6503	SO:0001819	synonymous_variant	10957	0	0					g.chr6:89790706C>T	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.93C>T	chr6.hg19:g.89790706C>T		0	Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA|PNRC1_ENST00000354922.3_5'Flank	p.A31A	NM_006813.2	NP_006804.1	0	0	0	1.973144	Q12796	PNRC1_HUMAN		1	210	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	1	1	hg19	c.93C>T	CCDS5018.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_006813			66	65		291	285	1		1	1		0	0	51	0		1	1	0	56	0	309	0	66	291
UBE2J1	51465	broad.mit.edu	37	6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	27					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269																																						ENST00000435041.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(79-81)Gat>Tat		ubiquitin-conjugating enzyme E2, J1							59.0	59.0	59.0					6																	90053428		2203	4298	6501	SO:0001583	missense	51465	0	0					g.chr6:90053428C>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.79G>T	chr6.hg19:g.90053428C>A	ENSP00000451261:p.Asp27Tyr	0						p.D27Y	NM_016021.2	NP_057105.2	0	0	0	1.973144	Q9Y385	UB2J1_HUMAN		2	357	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	1	1	hg19	c.79G>T	CCDS5021.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843161	0.71488	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46451	0.87	5.4	5.4	0.78164	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042805	0.85682	D	0.000000	T	0.24586	0.0596	N	0.25286	0.73	0.80722	D	1	B	0.33777	0.425	B	0.36289	0.221	T	0.12066	-1.0562	10	0.54805	T	0.06	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	27	Q9Y385	UB2J1_HUMAN	Y	27;12	ENSP00000451261:D27Y	ENSP00000354684:D27Y	D	-	1	0	0	UBE2J1	90110147	90110147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_016021			35	35		127	127	1		1	1		0	0	34	0		1	1	0	49	0	178	0	35	127
RRAGD	58528	broad.mit.edu	37	6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433																																						ENST00000369415.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(358-360)Gga>Tga		Ras-related GTP binding D							134.0	140.0	138.0					6																	90097100		2203	4300	6503	SO:0001587	stop_gained	58528	0	0					g.chr6:90097100C>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.358G>T	chr6.hg19:g.90097100C>A	ENSP00000358423:p.Gly120*	0					RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	p.G120*	NM_021244.4	NP_067067.1	0	0	0	1.973144				2	634	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		Nonsense_Mutation	SNP	ENST00000369415.4	0	1	hg19	c.358G>T	CCDS5022.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.577906	0.98368	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4848	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000358423:G120X	G	-	1	0	0	RRAGD	90153819	90153819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.487000	0.81328	2.583000	0.87209	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	1	0	1		2	2	2	0		0	0	182		182	181	1	2.060000	-3.176479	1	0.170000	NM_021244			153	149		697	688	1		1	1		0	0	182	0		1	1	0	2	0	119	0	153	697
MDN1	23195	broad.mit.edu	37	6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4047					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)			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)		TTCCAAGCCGGAAGGAGCAGC	0.572																																						ENST00000369393.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997254	0.990000	1.000000																										0				218						c.(12139-12141)tCc>tAc		MDN1, midasin homolog (yeast)							64.0	59.0	60.0					6																	90390433		2203	4300	6503	SO:0001583	missense	23195	0	0					g.chr6:90390433G>T	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.12140C>A	chr6.hg19:g.90390433G>T	ENSP00000358400:p.Ser4047Tyr	0					MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y	p.S4047Y			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		74	12255	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.12140C>A	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246517	0.10130	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.54	0.545	0.17190	4.54	0.545	0.17190	.	0.979712	0.08407	N	0.950525	T	0.00637	0.0021	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.1593	0.06515	0.5294:0.0:0.177:0.2936	.	4047	Q9NU22	MDN1_HUMAN	Y	4047	ENSP00000358400:S4047Y;ENSP00000413970:S4047Y	ENSP00000358400:S4047Y	S	-	2	0	0	MDN1	90447154	90447154	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	0.508000	0.22692	-0.085000	0.12573	-0.367000	0.07326	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000				27	25		194	192	1		1	1		0	0	64	0		1	7.466425e-01	0	2	0	19	0	27	194
MDN1	23195	broad.mit.edu	37	6	90402593	90402593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3386					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)			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)		TCCTCTGACAGCCGCTTCCGG	0.582																																						ENST00000369393.3	1.000000	0.630000	1	7.800000e-01	0.960000	0.913931	0.960000	1.000000																										0				218						c.(10156-10158)Ctg>Ttg		MDN1, midasin homolog (yeast)							57.0	53.0	55.0					6																	90402593		2203	4300	6503	SO:0001819	synonymous_variant	23195	0	0					g.chr6:90402593G>A	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.10156C>T	chr6.hg19:g.90402593G>A		0					MDN1_ENST00000428876.1_Silent_p.L3386L	p.L3386L			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		63	10271	-		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)	O15019|Q5T794	Silent	SNP	ENST00000369393.3	1	1	hg19	c.10156C>T	CCDS5024.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				23	23		254	248	0		1	0		0	0	64	0		9.999994e-01	5.664251e-01	0	1	0	21	0	23	254
MDN1	23195	broad.mit.edu	37	6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3127					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)			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)		GGAATACCTGAATTCTGCTAC	0.498																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(9379-9381)tTc>tCc		MDN1, midasin homolog (yeast)							71.0	63.0	66.0					6																	90406082		2203	4300	6503	SO:0001583	missense	23195	0	0					g.chr6:90406082A>G	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.9380T>C	chr6.hg19:g.90406082A>G	ENSP00000358400:p.Phe3127Ser	0					MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S	p.F3127S			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		60	9495	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.9380T>C	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224206	0.58668	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.118077	0.56097	D	0.000024	T	0.02230	0.0069	L	0.34521	1.04	0.52099	D	0.999941	D	0.54397	0.966	P	0.47299	0.543	T	0.63157	-0.6700	10	0.33141	T	0.24	.	11.2912	0.49252	0.8635:0.0:0.0:0.1365	.	3127	Q9NU22	MDN1_HUMAN	S	3127	ENSP00000358400:F3127S;ENSP00000413970:F3127S	ENSP00000358400:F3127S	F	-	2	0	0	MDN1	90462803	90462803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.067000	0.61834	0.533000	0.62120	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				47	46		166	165	1		1	1		0	0	46	0		1	8.932999e-01	0	3	0	13	0	47	166
MDN1	23195	broad.mit.edu	37	6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3065					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)			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)		TTAGAGAATATGGGTCTATTG	0.473																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000																										0				218						c.(9193-9195)Ata>Gta		MDN1, midasin homolog (yeast)							58.0	58.0	58.0					6																	90406269		2203	4300	6503	SO:0001583	missense	23195	0	0					g.chr6:90406269T>C	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.9193A>G	chr6.hg19:g.90406269T>C	ENSP00000358400:p.Ile3065Val	0					MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V	p.I3065V			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		60	9308	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.9193A>G	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254333	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.01871	4.59;4.59	5.65	-4.13	0.03904	5.65	-4.13	0.03904	.	1.145840	0.06519	N	0.739389	T	0.00271	0.0008	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.02654	T	1	.	9.2067	0.37293	0.0:0.6208:0.1122:0.267	.	3065	Q9NU22	MDN1_HUMAN	V	3065	ENSP00000358400:I3065V;ENSP00000413970:I3065V	ENSP00000358400:I3065V	I	-	1	0	0	MDN1	90462990	90462990	0.020000	0.18652	0.050000	0.19076	0.927000	0.56198	0.307000	0.19296	-0.669000	0.05289	-0.290000	0.09829	ATA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000				34	33		200	194	1		1	1		0	0	39	0		1	7.312085e-01	0	4	0	13	0	34	200
MDN1	23195	broad.mit.edu	37	6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2776					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)			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)		TTCTGAGACAGTCTGAACTTC	0.423																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				218						c.(8326-8328)aCt>aAt		MDN1, midasin homolog (yeast)							45.0	46.0	45.0					6																	90411377		2203	4300	6503	SO:0001583	missense	23195	0	0					g.chr6:90411377G>T	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.8327C>A	chr6.hg19:g.90411377G>T	ENSP00000358400:p.Thr2776Asn	0					MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N	p.T2776N			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		55	8442	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.8327C>A	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193207	0.38707	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.69	4.82	0.62117	5.69	4.82	0.62117	.	0.472428	0.22787	N	0.055659	T	0.01320	0.0043	N	0.24115	0.695	0.34143	D	0.6666	P	0.34462	0.454	B	0.29785	0.107	T	0.55347	-0.8155	10	0.37606	T	0.19	.	15.042	0.71799	0.0692:0.0:0.9308:0.0	.	2776	Q9NU22	MDN1_HUMAN	N	2776	ENSP00000358400:T2776N;ENSP00000413970:T2776N	ENSP00000358400:T2776N	T	-	2	0	0	MDN1	90468098	90468098	1.000000	0.71417	0.534000	0.28014	0.945000	0.59286	7.045000	0.76585	1.379000	0.46325	0.585000	0.79938	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000				44	44		215	211	1		1	1		0	0	43	0		1	7.134951e-01	0	2	0	12	0	44	215
MDN1	23195	broad.mit.edu	37	6	90417165	90417165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2643					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)			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)		CAGTAAAAACCCGTTTTTCCC	0.338																																						ENST00000369393.3	1.000000	0.780000	1	9.400000e-01	0.990000	0.977109	0.990000	1.000000																										0				218						c.(7927-7929)cgG>cgA		MDN1, midasin homolog (yeast)							121.0	123.0	122.0					6																	90417165		2203	4300	6503	SO:0001819	synonymous_variant	23195	0	0					g.chr6:90417165C>T	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.7929G>A	chr6.hg19:g.90417165C>T		0					MDN1_ENST00000428876.1_Silent_p.R2643R	p.R2643R			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		52	8044	-		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)	O15019|Q5T794	Silent	SNP	ENST00000369393.3	1	1	hg19	c.7929G>A	CCDS5024.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				28	27		256	251	0		1	1		0	0	58	0		1	6.073736e-01	0	5	0	15	0	28	256
MDN1	23195	broad.mit.edu	37	6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1370					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)			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)		GCGAGTCTCCGCATGCCCTCA	0.453																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(4108-4110)Cgg>Tgg		MDN1, midasin homolog (yeast)							139.0	121.0	127.0					6																	90455062		2203	4300	6503	SO:0001583	missense	23195	1	121410	35				g.chr6:90455062G>A	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.4108C>T	chr6.hg19:g.90455062G>A	ENSP00000358400:p.Arg1370Trp	0					MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W	p.R1370W			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		29	4223	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.4108C>T	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052747	0.55218	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.87	4.0	0.46444	5.87	4.0	0.46444	.	0.106693	0.64402	D	0.000008	T	0.58509	0.2127	M	0.88979	2.995	0.50313	D	0.999868	D	0.60575	0.988	P	0.62560	0.904	T	0.68773	-0.5320	10	0.59425	D	0.04	.	14.2802	0.66205	0.0:0.0:0.5168:0.4832	.	1370	Q9NU22	MDN1_HUMAN	W	1370	ENSP00000358400:R1370W;ENSP00000413970:R1370W	ENSP00000358400:R1370W	R	-	1	2	2	MDN1	90511783	90511783	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	1.456000	0.47831	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.168267	1	0.170000				85	85		365	360	1		1	1		0	0	92	0		1	6.928817e-01	0	2	0	10	0	85	365
MDN1	23195	broad.mit.edu	37	6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1008					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)			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)		GACAGATGAGCTTCTGAACTA	0.378																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(3022-3024)aaG>aaT		MDN1, midasin homolog (yeast)							138.0	135.0	136.0					6																	90463282		2203	4300	6503	SO:0001583	missense	23195	0	0					g.chr6:90463282C>A	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.3024G>T	chr6.hg19:g.90463282C>A	ENSP00000358400:p.Lys1008Asn	0					MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N	p.K1008N			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		22	3139	-		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)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	1	1	hg19	c.3024G>T	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566399	0.27915	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19250	3.92;3.92;2.16	5.91	-0.626	0.11544	5.91	-0.626	0.11544	.	0.054527	0.64402	D	0.000001	T	0.05593	0.0147	L	0.45698	1.435	0.45183	D	0.998198	B;B	0.24533	0.105;0.013	B;B	0.19391	0.025;0.016	T	0.18555	-1.0333	10	0.23302	T	0.38	.	6.1607	0.20362	0.1198:0.5202:0.0:0.36	.	935;1008	Q5T795;Q9NU22	.;MDN1_HUMAN	N	1008;1008;935	ENSP00000358400:K1008N;ENSP00000413970:K1008N;ENSP00000409664:K935N	ENSP00000358400:K1008N	K	-	3	2	2	MDN1	90520003	90520003	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	0.386000	0.20702	0.127000	0.18452	-0.140000	0.14226	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000				82	79		385	383	1		1	0		0	0	92	0		1	3.589866e-01	0	0	0	7	0	82	385
MDN1	23195	broad.mit.edu	37	6	90494754	90494754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90494754G>A	ENST00000369393.3	-	9	1541	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	MDN1_ENST00000428876.1_Silent_p.L476L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	476					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)			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)		CTCTTATCCAGGTTATCCAGG	0.438																																						ENST00000369393.3	0.260000	0.080000	2.100000e-01	1.100000e-01	0.160000	0.169479	0.160000	0.160000																										0				218						c.(1426-1428)Ctg>Ttg		MDN1, midasin homolog (yeast)							261.0	249.0	253.0					6																	90494754		2203	4300	6503	SO:0001819	synonymous_variant	23195	0	0					g.chr6:90494754G>A	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.1426C>T	chr6.hg19:g.90494754G>A		0					MDN1_ENST00000428876.1_Silent_p.L476L	p.L476L			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		9	1541	-		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)	O15019|Q5T794	Silent	SNP	ENST00000369393.3	0	1	hg19	c.1426C>T	CCDS5024.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1		2	2	2	0		0	0	190		190	190	1	2.060000	-2.231001	0	0.170000				13	13		940	929	0		1	0		0	0	190	0		9.994910e-01	1.358638e-02	0	0	0	12	0	13	940
MDN1	23195	broad.mit.edu	37	6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	150					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)			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)		AAGGCTGCTTCCATTAGGTCC	0.522																																						ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(448-450)Gaa>Taa		MDN1, midasin homolog (yeast)							128.0	105.0	113.0					6																	90504402		2203	4300	6503	SO:0001587	stop_gained	23195	0	0					g.chr6:90504402C>A	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.448G>T	chr6.hg19:g.90504402C>A	ENSP00000358400:p.Glu150*	0					MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*	p.E150*			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		3	563	-		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)	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	0	1	hg19	c.448G>T	CCDS5024.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.500931	0.97616	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.061948	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358400:E150X	E	-	1	0	0	MDN1	90561123	90561123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.614000	0.88457	0.557000	0.71058	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000				69	69		265	259	1		1	1		0	0	66	0		1	6.451187e-01	0	3	0	7	0	69	265
MDN1	23195	broad.mit.edu	37	6	90513085	90513085	+	Silent	SNP	C	C	T	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	97					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)			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)		GTTTGCTCATCGACACACATA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000369393.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				218						c.(289-291)tcG>tcA		MDN1, midasin homolog (yeast)		C		4,4402	8.1+/-20.4	0,4,2199	278.0	243.0	255.0		291	-9.6	0.8	6	dbSNP_134	255	0,8600		0,0,4300	no	coding-synonymous	MDN1	NM_014611.1		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		97/5597	90513085	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23195	14	121412	51				g.chr6:90513085C>T	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.291G>A	chr6.hg19:g.90513085C>T		0					MDN1_ENST00000428876.1_Silent_p.S97S	p.S97S			0	0	0	1.973144	Q9NU22	MDN1_HUMAN		2	406	-		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)	O15019|Q5T794	Silent	SNP	ENST00000369393.3	1	1	hg19	c.291G>A	CCDS5024.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1		15	2	2	1		1	1	178		178	177	1	2.060000	-3.321545	1	0.170000				124	118		632	618	1		1	0		1	0	178	0		1	1.928703e-01	0	1	0	4	0	124	632
CASP8AP2	9994	broad.mit.edu	37	6	90573238	90573238	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	ENST00000551025.1	+	0	3247									caspase 8 associated protein 2											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)		TAAAACAGTGGCATATGTTCC	0.423																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.996934	0.990000	1.000000																										0				51								caspase 8 associated protein 2							42.0	41.0	41.0					6																	90573238		1931	4131	6062			9994	0	0					g.chr6:90573238G>A	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		chr6.hg19:g.90573238G>A		0									0	0	0	1.973144				0	3247	+		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)		RNA	SNP	ENST00000551025.1	0	1	hg19			1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.499610	1	0.170000	NM_001137667			10	10		42	39	0		1	1		0	0	12	0		9.970379e-01	8.883680e-01	0	7	0	12	0	10	42
CASP8AP2	9994	broad.mit.edu	37	6	90576760	90576760	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	ENST00000551025.1	+	0	5188									caspase 8 associated protein 2											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)		TCAATCCGAAGAGCGCTCCTT	0.378																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51								caspase 8 associated protein 2							41.0	42.0	42.0					6																	90576760		1853	4090	5943			9994	0	0					g.chr6:90576760G>T	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		chr6.hg19:g.90576760G>T		0									0	0	0	1.973144				0	5188	+		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)		RNA	SNP	ENST00000551025.1	0	1	hg19			1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		15	4	2	1		1	1	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_001137667			43	41		189	186	0		1	1		1	0	53	0		9.999739e-01	9.011235e-01	0	7	0	28	0	43	189
CASP8AP2	9994	broad.mit.edu	37	6	90578293	90578293	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	ENST00000551025.1	+	0	6721									caspase 8 associated protein 2											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)		TGTGGAAGACTTGGGATGTGG	0.403																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51								caspase 8 associated protein 2							87.0	81.0	83.0					6																	90578293		1924	4143	6067			9994	0	0					g.chr6:90578293T>C	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		chr6.hg19:g.90578293T>C		0									0	0	0	1.973144				0	6721	+		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)		RNA	SNP	ENST00000551025.1	0	1	hg19			1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_001137667			35	34		122	120	0		1	1		0	0	36	0		1	9.990408e-01	0	13	0	28	0	35	122
BACH2	60468	broad.mit.edu	37	6	90647962	90647962	+	Silent	SNP	A	A	G	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	648	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443																																						ENST00000257749.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1942-1944)caT>caC		BTB and CNC homology 1, basic leucine zipper transcription factor 2		A	,	0,4406		0,0,2203	120.0	115.0	117.0		1944,1944	-0.6	1.0	6	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	,	648/842,648/842	90647962	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60468	6	121412	42				g.chr6:90647962A>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1944T>C	chr6.hg19:g.90647962A>G		0					BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	p.H648H	NM_021813.2	NP_068585.1	0	0	0	1.973144	Q9BYV9	BACH2_HUMAN		8	2651	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	1	1	hg19	c.1944T>C	CCDS5026.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_021813			97	96		389	383	1		1	0		0	0	68	0		1	1.826824e-01	0	0	0	4	0	97	389
MAP3K7	6885	broad.mit.edu	37	6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T	rs201721045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369320.1_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					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)			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)		ACGGTGGCCCCGTTTAGGCTT	0.408																																						ENST00000369329.3	0.750000	0.260000	6.100000e-01	3.500000e-01	0.470000	0.491121	0.470000	0.460000																										0				28						c.(1228-1230)cGg>cAg		mitogen-activated protein kinase kinase kinase 7							120.0	115.0	116.0					6																	91254333		2203	4300	6503	SO:0001583	missense	6885	2	121408	34				g.chr6:91254333C>T	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.1229G>A	chr6.hg19:g.91254333C>T	ENSP00000358335:p.Arg410Gln	0					MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q	p.R410Q	NM_145331.2	NP_663304.1	0	0	0	1.973144	O43318	M3K7_HUMAN		12	1390	-		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)	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	1	1	hg19	c.1229G>A	CCDS5028.1	0	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957146	0.73902	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	T;T	0.76316	-0.98;-1.01	5.47	4.6	0.57074	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.03608	-0.345	0.80722	D	1	B;D	0.64830	0.401;0.994	B;P	0.61201	0.02;0.885	T	0.63554	-0.6611	10	0.09338	T	0.73	.	16.2921	0.82757	0.0:0.8672:0.1328:0.0	.	410;410	O43318-3;O43318	.;M3K7_HUMAN	Q	410	ENSP00000358335:R410Q;ENSP00000358331:R410Q	ENSP00000358331:R410Q	R	-	2	0	0	MAP3K7	91311054	91311054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	1.302000	0.44855	0.491000	0.48974	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	0	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-2.275643	0	0.170000	NM_145331			13	13		311	301	0		1	0		0	0	56	0		9.994591e-01	5.279179e-01	0	0	0	42	0	13	311
EPHA7	2045	broad.mit.edu	37	6	93967929	93967929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			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)		CAACTTTCAGGGTTTTTATGG	0.448																																						ENST00000369303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(1996-1998)acC>acT		EPH receptor A7							129.0	133.0	132.0					6																	93967929		2203	4300	6503	SO:0001819	synonymous_variant	2045	0	0					g.chr6:93967929G>A	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.1998C>T	chr6.hg19:g.93967929G>A		0						p.T666T	NM_004440.3	NP_004431.1	0	0	0	1.973144	Q15375	EPHA7_HUMAN		11	2182	-		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)	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	1	1	hg19	c.1998C>T	CCDS5031.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1	1	0	1		2	2	2	0		0	0	101		101	93	1	2.060000	-3.009414	1	0.170000				132	130		511	497	1		1	0		0	0	101	0		1	0	0	0	0	1	0	132	511
EPHA7	2045	broad.mit.edu	37	6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	37	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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)		GCTTTAGAATCCAGCAGTAGT	0.318																																						ENST00000369303.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.990969	0.990000	1.000000																										0				112						c.(109-111)Gat>Aat		EPH receptor A7							90.0	87.0	88.0					6																	94124474		2203	4298	6501	SO:0001583	missense	2045	0	0					g.chr6:94124474C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.109G>A	chr6.hg19:g.94124474C>T	ENSP00000358309:p.Asp37Asn	0					EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	p.D37N	NM_004440.3	NP_004431.1	0	0	0	1.973144	Q15375	EPHA7_HUMAN		2	293	-		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)	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	1	1	hg19	c.109G>A	CCDS5031.1	1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578356	0.65878	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.100727	0.64402	D	0.000006	T	0.11965	0.0291	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.39443	0.008;0.078;0.623;0.674	B;B;B;B	0.42827	0.007;0.055;0.278;0.399	T	0.01030	-1.1475	10	0.72032	D	0.01	.	17.5467	0.87864	0.0:1.0:0.0:0.0	.	37;37;37;37	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	37	ENSP00000358309:D37N;ENSP00000358303:D37N	ENSP00000358303:D37N	D	-	1	0	0	EPHA7	94181195	94181195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.672000	0.90937	0.555000	0.69702	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000				20	20		152	148	1		1	0		0	0	46	0		9.999959e-01	0	0	0	0	1	0	20	152
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(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)		TATGACCCCCGCAGTAATTCC	0.567																																						ENST00000369261.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										1	Substitution - Missense(1)	p.R374H(1)	large_intestine(1)	38						c.(1120-1122)cGc>cAc		kelch-like family member 32							59.0	56.0	57.0					6																	97562152		2203	4300	6503	SO:0001583	missense	114792	2	121412	29				g.chr6:97562152G>A	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.1121G>A	chr6.hg19:g.97562152G>A	ENSP00000358265:p.Arg374His	0					KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H	p.R374H	NM_052904.3	NP_443136.2	0	0	0	1.973144	Q96NJ5	KLH32_HUMAN		7	1484	+		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)	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	1	1	hg19	c.1121G>A	CCDS5038.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	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;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	0	KLHL32	97668873	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-17.734300	1	0.170000	NM_052904			32	32		170	164	1		1			0	0	54	0		1	0	0	0	0	0	0	32	170
KLHL32	114792	broad.mit.edu	37	6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	503										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)		TGGAGGCAATGACCTAGACTA	0.453																																						ENST00000369261.4	1.000000	0.740000	1	8.600000e-01	0.980000	0.946967	0.980000	1.000000																										0				38						c.(1507-1509)Gac>Aac		kelch-like family member 32							160.0	143.0	149.0					6																	97578726		2203	4300	6503	SO:0001583	missense	114792	0	0					g.chr6:97578726G>A	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.1507G>A	chr6.hg19:g.97578726G>A	ENSP00000358265:p.Asp503Asn	0					KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N	p.D503N	NM_052904.3	NP_443136.2	0	0	0	1.973144	Q96NJ5	KLH32_HUMAN		9	1870	+		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)	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	1	1	hg19	c.1507G>A	CCDS5038.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106944	0.77096	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.96	4.96	0.65561	4.96	4.96	0.65561	Kelch-type beta propeller (1);	0.049990	0.85682	N	0.000000	T	0.68988	0.3061	L	0.37750	1.13	0.80722	D	1	B;B;B;P	0.42620	0.001;0.22;0.0;0.785	B;B;B;P	0.44946	0.008;0.19;0.012;0.465	T	0.74200	-0.3742	10	0.59425	D	0.04	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	434;467;503;59	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	N	503;467;59;434	ENSP00000358265:D503N;ENSP00000440382:D467N;ENSP00000445453:D59N;ENSP00000441527:D434N	ENSP00000358265:D503N	D	+	1	0	0	KLHL32	97685447	97685447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.576000	0.86940	0.609000	0.83330	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-3.221883	1	0.170000	NM_052904			49	49		524	517	0		1	0		0	0	121	0		1	0	0	0	0	1	0	49	524
POU3F2	5454	broad.mit.edu	37	6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	409					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)			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)		GACAGAAAGAGAAAAGGATGA	0.627																																						ENST00000328345.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1225-1227)gaG>gaT		POU class 3 homeobox 2							53.0	64.0	60.0					6																	99283976		2203	4300	6503	SO:0001583	missense	5454	0	0					g.chr6:99283976G>T	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.1227G>T	chr6.hg19:g.99283976G>T	ENSP00000329170:p.Glu409Asp	0						p.E409D	NM_005604.3	NP_005595.2	0	0	0	1.973144	P20265	PO3F2_HUMAN		1	1397	+		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)	Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	1	1	hg19	c.1227G>T	CCDS5040.1	1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727850	0.69074	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.96522	-4.04	4.51	4.51	0.55191	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000003	D	0.96191	0.8758	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	D	0.96662	0.9490	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:1.0:0.0	.	409	P20265	PO3F2_HUMAN	D	409;342	ENSP00000329170:E409D	ENSP00000329170:E409D	E	+	3	2	2	POU3F2	99390697	99390697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.330000	0.79161	0.555000	0.69702	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000				76	75		414	411	1		1			0	0	72	0		1	0	0	0	0	0	0	76	414
FBXL4	26235	broad.mit.edu	37	6	99347219	99347219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	414					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				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)		CTTGAGGTGGTAGCTTATCAC	0.383																																						ENST00000369244.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1240-1242)ctA>ctG		F-box and leucine-rich repeat protein 4							168.0	151.0	156.0					6																	99347219		2203	4300	6503	SO:0001819	synonymous_variant	26235	0	0					g.chr6:99347219T>C	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.1242A>G	chr6.hg19:g.99347219T>C		0					FBXL4_ENST00000229971.1_Silent_p.L414L	p.L414L	NM_001278716.1	NP_001265645.1	0	0	0	1.973144	Q9UKA2	FBXL4_HUMAN		7	1670	-		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)	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	1	1	hg19	c.1242A>G	CCDS5041.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2	1	0	0		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000				110	109		510	500	1		1	1		0	0	121	0		1	9.999792e-01	0	23	0	50	0	110	510
FBXL4	26235	broad.mit.edu	37	6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	10					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				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)		ATGGTCAGAACTGTTAACATG	0.428																																						ENST00000369244.2	0.550000	0.220000	4.600000e-01	2.900000e-01	0.360000	0.380607	0.360000	0.360000																										0				18						c.(28-30)Gtt>Att		F-box and leucine-rich repeat protein 4							118.0	113.0	115.0					6																	99374837		2203	4300	6503	SO:0001583	missense	26235	0	0					g.chr6:99374837C>T	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.28G>A	chr6.hg19:g.99374837C>T	ENSP00000358247:p.Val10Ile	0					FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	p.V10I	NM_001278716.1	NP_001265645.1	0	0	0	1.973144	Q9UKA2	FBXL4_HUMAN		4	456	-		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)	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	1	1	hg19	c.28G>A	CCDS5041.1	0	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092630	0.56075	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15017	2.46;2.46	5.52	4.66	0.58398	5.52	4.66	0.58398	.	0.057782	0.64402	D	0.000001	T	0.09555	0.0235	L	0.51422	1.61	0.47547	D	0.999454	B	0.34372	0.451	B	0.31869	0.137	T	0.03354	-1.1045	10	0.66056	D	0.02	.	14.7707	0.69675	0.0:0.9303:0.0:0.0697	.	10	Q9UKA2	FBXL4_HUMAN	I	10	ENSP00000358247:V10I;ENSP00000229971:V10I	ENSP00000229971:V10I	V	-	1	0	0	FBXL4	99481558	99481558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2	0	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-15.907210	1	0.170000				18	18		555	544	0		1	0		0	0	107	0		9.999788e-01	3.562529e-01	0	0	0	38	0	18	555
USP45	85015	broad.mit.edu	37	6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A	rs375582786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	775	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			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)		ATTATCAGCCGCTTTCAAACC	0.368																																						ENST00000327681.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2323-2325)gCg>gTg		ubiquitin specific peptidase 45		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91.0	92.0	92.0		2324	4.5	0.9	6		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP45	NM_001080481.1	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	775/815	99883713	3,13003	2203	4300	6503	SO:0001583	missense	85015	8	121412	42				g.chr6:99883713G>A	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.2324C>T	chr6.hg19:g.99883713G>A	ENSP00000333376:p.Ala775Val	0					USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	p.A775V	NM_001080481.1	NP_001073950.1	0	0	0	1.973144	Q70EL2	UBP45_HUMAN		18	2856	-		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)	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	1	1	hg19	c.2324C>T	CCDS34501.1	1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743813	0.30865	4.54E-4	1.16E-4	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.43688	2.21;3.69;3.69;0.94;3.69	5.65	4.49	0.54785	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.109289	0.64402	D	0.000008	T	0.13243	0.0321	N	0.19112	0.55	0.80722	D	1	B;B	0.32939	0.275;0.391	B;B	0.32465	0.146;0.031	T	0.05784	-1.0864	10	0.52906	T	0.07	.	7.6188	0.28173	0.0:0.0704:0.1431:0.7865	.	775;455	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	455;775;775;68;727	ENSP00000376495:A455V;ENSP00000424372:A775V;ENSP00000333376:A775V;ENSP00000439569:A68V;ENSP00000358236:A727V	ENSP00000333376:A775V	A	-	2	0	0	USP45	99990434	99990434	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	4.699000	0.61796	0.970000	0.38263	-0.264000	0.10439	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_032929			76	74		295	291	1		1	1		0	0	71	0		1	6.925085e-01	0	2	0	9	0	76	295
USP45	85015	broad.mit.edu	37	6	99893884	99893884	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000369233.2_Silent_p.C540C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	588	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			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)		CCTCTAAAAAACATAAATTAT	0.353																																						ENST00000327681.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1762-1764)tgT>tgC		ubiquitin specific peptidase 45							35.0	39.0	38.0					6																	99893884		2202	4300	6502	SO:0001819	synonymous_variant	85015	0	0					g.chr6:99893884A>G	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.1764T>C	chr6.hg19:g.99893884A>G		0					USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000539675.1_Intron	p.C588C	NM_001080481.1	NP_001073950.1	0	0	0	1.973144	Q70EL2	UBP45_HUMAN		14	2296	-		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)	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	1	1	hg19	c.1764T>C	CCDS34501.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_032929			67	67		228	226	1		1	0		0	0	45	0		1	2.276028e-01	0	0	0	4	0	67	228
TBP	6908	broad.mit.edu	37	6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000540980.1_Missense_Mutation_p.T318M|TBP_ENST00000230354.6_Missense_Mutation_p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	338					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393																																						ENST00000392092.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1012-1014)aCg>aTg		TATA box binding protein							120.0	111.0	114.0					6																	170881346		2203	4300	6503	SO:0001583	missense	6908	2	121412	33				g.chr6:170881346C>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.1013C>T	chr6.hg19:g.170881346C>T	ENSP00000375942:p.Thr338Met	0					TBP_ENST00000230354.6_Missense_Mutation_p.T338M|TBP_ENST00000540980.1_Missense_Mutation_p.T318M	p.T338M	NM_003194.4	NP_003185.1	0	0	0	1.973144	P20226	TBP_HUMAN		8	1292	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	1	1	hg19	c.1013C>T	CCDS5315.1	1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235125	0.58886	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67197	-0.5731	9	0.54805	T	0.06	-13.7474	20.3932	0.98965	0.0:1.0:0.0:0.0	.	338	P20226	TBP_HUMAN	M	338;318;338;315	.	ENSP00000230354:T338M	T	+	2	0	0	TBP	170723271	170723271	1.000000	0.71417	0.968000	0.41197	0.397000	0.30659	7.224000	0.78042	2.824000	0.97209	0.655000	0.94253	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	1	0	1		2	2	2	0		0	0	88		88	84	1	2.060000	-20.000000	1	0.170000	NM_003194			61	59		329	315	1		1	1		0	0	88	0		1	9.999129e-01	0	18	0	57	0	61	329
ZCWPW1	55063	broad.mit.edu	37	7	100006173	100006173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000398027.2	-	10	1225	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_ENST00000324725.6_Silent_p.Y206Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	326	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			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)					AGGGGTAACCGTATTGCTTGG	0.498																																						ENST00000398027.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(976-978)taC>taT		zinc finger, CW type with PWWP domain 1							153.0	148.0	149.0					7																	100006173		2004	4163	6167	SO:0001819	synonymous_variant	55063	1	120924	33				g.chr7:100006173G>A	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.978C>T	chr7.hg19:g.100006173G>A		0					ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y	p.Y326Y	NM_017984.4	NP_060454.3	1	2	3	2.000345	Q9H0M4	ZCPW1_HUMAN		10	1225	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	1	1	hg19	c.978C>T	CCDS43623.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	0		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_017984			92	92		423	418	1		1	1		0	0	119	0		1	7.767599e-01	0	2	0	13	0	92	423
ZCWPW1	55063	broad.mit.edu	37	7	100006218	100006218	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000398027.2	-	10	1180	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_ENST00000324725.6_Silent_p.A191A|ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	311							zinc ion binding (GO:0008270)			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)					AGGAGGCATAGGCCACATCAC	0.502																																						ENST00000398027.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(931-933)gcC>gcA		zinc finger, CW type with PWWP domain 1							157.0	153.0	154.0					7																	100006218		2025	4192	6217	SO:0001819	synonymous_variant	55063	0	0					g.chr7:100006218G>T	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.933C>A	chr7.hg19:g.100006218G>T		0					ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000324725.6_Silent_p.A191A	p.A311A	NM_017984.4	NP_060454.3	1	2	3	2.000345	Q9H0M4	ZCPW1_HUMAN		10	1180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	1	1	hg19	c.933C>A	CCDS43623.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	0	0	0		15	2	2	1		1	1	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_017984			104	104		367	362	1		1	1		1	0	113	0		1	7.788145e-01	0	4	0	8	0	104	367
ZCWPW1	55063	broad.mit.edu	37	7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000398027.2	-	7	754	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	169							zinc ion binding (GO:0008270)			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)					AAGACACTGAAATCTCTTGAG	0.418																																						ENST00000398027.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(505-507)atT>atG		zinc finger, CW type with PWWP domain 1							119.0	109.0	112.0					7																	100014052		1871	4112	5983	SO:0001583	missense	55063	0	0					g.chr7:100014052A>C	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.507T>G	chr7.hg19:g.100014052A>C	ENSP00000381109:p.Ile169Met	0					ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M	p.I169M	NM_017984.4	NP_060454.3	1	2	3	2.000345	Q9H0M4	ZCPW1_HUMAN		7	754	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	1	1	hg19	c.507T>G	CCDS43623.1	1	.	.	.	.	.	.	.	.	.	.	A	7.804	0.714256	0.15306	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.56776	0.45;0.53;0.44;0.53	5.23	1.29	0.21616	5.23	1.29	0.21616	.	0.774317	0.11398	N	0.568126	T	0.28830	0.0715	N	0.24115	0.695	0.09310	N	1	P;P;B;P;P	0.37441	0.506;0.595;0.264;0.595;0.525	B;B;B;B;B	0.33454	0.074;0.123;0.044;0.123;0.164	T	0.11012	-1.0605	9	.	.	.	-0.4614	1.3621	0.02194	0.5315:0.189:0.0982:0.1812	.	169;129;170;169;48	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	M	169;48;169;48;170	ENSP00000381109:I169M;ENSP00000419187:I48M;ENSP00000354210:I169M;ENSP00000314880:I48M	.	I	-	3	3	3	ZCWPW1	99851988	99851988	0.355000	0.24921	0.957000	0.39632	0.211000	0.24417	0.340000	0.19892	0.873000	0.35799	0.533000	0.62120	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_017984			90	88		342	339	1		1	1		0	0	79	0		1	2.830298e-01	0	2	0	3	0	90	342
ZCWPW1	55063	broad.mit.edu	37	7	100017440	100017440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	ENST00000398027.2	-	4	342	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	32							zinc ion binding (GO:0008270)			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)					GTTAGGGCTACAAGGTAACAG	0.468																																						ENST00000398027.2	1.000000	0.500000	9.200000e-01	6.100000e-01	0.750000	0.764086	0.750000	1.000000																										0				16						c.(94-96)tGt>tAt		zinc finger, CW type with PWWP domain 1							99.0	90.0	93.0					7																	100017440		1839	4083	5922	SO:0001583	missense	55063	0	0					g.chr7:100017440C>T	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.95G>A	chr7.hg19:g.100017440C>T	ENSP00000381109:p.Cys32Tyr	0					ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000324725.6_5'UTR	p.C32Y	NM_017984.4	NP_060454.3	1	2	3	2.000345	Q9H0M4	ZCPW1_HUMAN		4	342	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	1	1	hg19	c.95G>A	CCDS43623.1	0	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.889789	0.00060	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.42131	1.0;0.98	4.94	-9.88	0.00467	4.94	-9.88	0.00467	.	2.370910	0.01566	N	0.020351	T	0.15609	0.0376	N	0.05078	-0.115	0.09310	N	0.999998	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	0.15037	-1.0451	9	.	.	.	13.2462	2.6278	0.04934	0.1665:0.3516:0.0936:0.3882	.	32;32;32;32	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	Y	32	ENSP00000381109:C32Y;ENSP00000354210:C32Y	.	C	-	2	0	0	ZCWPW1	99855376	99855376	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.939000	0.00684	-2.733000	0.00383	-0.824000	0.03097	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_017984			28	28		421	416	0		1	1		0	0	82	0		1	1.335323e-01	0	2	0	8	0	28	421
MEPCE	56257	broad.mit.edu	37	7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	518	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)			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)					CACCACCGTTCGAAAGAGGAG	0.632																																						ENST00000310512.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1552-1554)Cga>Tga		methylphosphate capping enzyme							36.0	33.0	34.0					7																	100029193		2203	4297	6500	SO:0001587	stop_gained	56257	0	0					g.chr7:100029193C>T	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.1552C>T	chr7.hg19:g.100029193C>T	ENSP00000308546:p.Arg518*	0					MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	p.R518*	NM_019606.5	NP_062552.2	1	2	3	2.000345	Q7L2J0	MEPCE_HUMAN		1	1940	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		B3KP86|D6W5V7|Q9NPD4	Nonsense_Mutation	SNP	ENST00000310512.2	0	1	hg19	c.1552C>T	CCDS5693.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.828728	0.99846	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.48	2.6	0.31112	5.48	2.6	0.31112	.	0.763190	0.12193	N	0.490961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0106	11.4875	0.50363	0.4749:0.5251:0.0:0.0	.	.	.	.	X	49;49;518	.	ENSP00000308546:R518X	R	+	1	2	2	MEPCE	99867129	99867129	0.000000	0.05858	0.033000	0.17914	0.786000	0.44442	0.673000	0.25203	0.246000	0.21394	0.561000	0.74099	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000				45	44		218	216	1		1	1		0	0	51	0		1	1	0	11	0	125	0	45	218
C7orf61	402573	broad.mit.edu	37	7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	RN7SL161P_ENST00000582642.1_RNA|TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	128						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592																																						ENST00000332375.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(382-384)tgG>tgA		chromosome 7 open reading frame 61							62.0	67.0	65.0					7																	100060989		2060	4207	6267	SO:0001587	stop_gained	402573	0	0					g.chr7:100060989C>T		CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.384G>A	chr7.hg19:g.100060989C>T	ENSP00000327732:p.Trp128*	0					RN7SL161P_ENST00000582642.1_RNA|TSC22D4_ENST00000496728.1_5'UTR	p.W128*	NM_001004323.1	NP_001004323.1	1	2	3	2.000345	Q8IZ16	CG061_HUMAN		2	629	-				Nonsense_Mutation	SNP	ENST00000332375.3	0	1	hg19	c.384G>A	CCDS47661.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496895|2.496895	0.44352|0.44352	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	4.02|4.02	3.14|3.14	0.36123|0.36123	4.02|4.02	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.37715	.|N	.|0.001969	T|.	0.27489|.	0.0675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15122|.	-1.0448|.	4|.	.|0.02654	.|T	.|1	-0.0079|-0.0079	7.6939|7.6939	0.28583|0.28583	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	.|.	.|.	.|.	K|X	170|128	.|.	.|ENSP00000327732:W128X	E|W	-|-	1|3	0|0	0|0	C7orf61|C7orf61	99898925|99898925	99898925|99898925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	3.018000|3.018000	0.49625|0.49625	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	GAA|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_001004323			107	105		397	385	1		1	0		0	0	86	0		1	0	0	0	0	1	0	107	397
AGFG2	3268	broad.mit.edu	37	7	100161557	100161557	+	Silent	SNP	G	G	A	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	424	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			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						TGTTCCCCCCGCAGACCCCGC	0.602											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		19163	0.0		0.001	False		,,,				2504	0.0					ENST00000300176.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1270-1272)ccG>ccA		ArfGAP with FG repeats 2		G		2,4404	4.2+/-10.8	0,2,2201	68.0	75.0	72.0		1272	-2.2	0.0	7	dbSNP_126	72	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	AGFG2	NM_006076.4		0,10,6493	AA,AG,GG		0.093,0.0454,0.0769		424/482	100161557	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	3268	42	121412	49				g.chr7:100161557G>A	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.1272G>A	chr7.hg19:g.100161557G>A		0		OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	p.P424P	NM_006076.4	NP_006067.3	1	2	3	2.000345	O95081	AGFG2_HUMAN		10	1394	+			O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	1	1	hg19	c.1272G>A	CCDS5697.1	1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300818	0.01364	4.54E-4	9.3E-4	ENSG00000106351	ENST00000429987	.	.	.	4.34	-2.18	0.07037	4.34	-2.18	0.07037	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.24692	N	0.993301	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-47.8848	8.5987	0.33732	0.6053:0.0:0.3947:0.0	rs35771030	.	.	.	H	166	.	.	R	+	2	0	0	AGFG2	99999493	99999493	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.375000	0.02563	-0.607000	0.05738	-1.188000	0.01700	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	1	0	1		2	2	2	0		0	0	111		111	108	1	2.060000	-3.184900	1	0.170000	NM_006076			126	123		499	487	1		1	1		0	0	111	0		1	1	0	63	0	140	0	126	499
LRCH4	4034	broad.mit.edu	37	7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000310300.6	-	12	1364	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	438					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632																																						ENST00000310300.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1312-1314)Ctc>Ttc		leucine-rich repeats and calponin homology (CH) domain containing 4							57.0	61.0	60.0					7																	100174761		2202	4300	6502	SO:0001583	missense	4034	0	0					g.chr7:100174761G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1312C>T	chr7.hg19:g.100174761G>A	ENSP00000309689:p.Leu438Phe	0					LRCH4_ENST00000497245.1_5'UTR	p.L438F	NM_002319.3	NP_002310.2	1	2	3	2.000345	O75427	LRCH4_HUMAN		12	1364	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	1	1	hg19	c.1312C>T	CCDS34706.1	1	.	.	.	.	.	.	.	.	.	.	g	8.842	0.942492	0.18281	.	.	ENSG00000077454	ENST00000310300	T	0.33865	1.39	4.39	-5.68	0.02436	4.39	-5.68	0.02436	.	2.169780	0.01807	N	0.033258	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	P	0.34780	0.468	B	0.30646	0.118	T	0.10268	-1.0637	10	0.56958	D	0.05	0.0698	2.4963	0.04622	0.1237:0.1208:0.4011:0.3544	.	438	O75427	LRCH4_HUMAN	F	438	ENSP00000309689:L438F	ENSP00000309689:L438F	L	-	1	0	0	LRCH4	100012697	100012697	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.450000	0.06803	-1.113000	0.02981	-0.436000	0.05848	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_002319			72	70		304	295	1		1	1		0	0	64	0		1	9.965960e-01	0	9	0	30	0	72	304
FBXO24	26261	broad.mit.edu	37	7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	84					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592																																						ENST00000241071.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(250-252)cGc>cAc		F-box protein 24							75.0	61.0	66.0					7																	100187909		2203	4300	6503	SO:0001583	missense	26261	0	0					g.chr7:100187909G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.251G>A	chr7.hg19:g.100187909G>A	ENSP00000241071:p.Arg84His	0					FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H	p.R84H	NM_033506.2	NP_277041.1	1	2	3	2.000345	O75426	FBX24_HUMAN		3	573	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	1	1	hg19	c.251G>A	CCDS5698.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428216	0.43122	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.69	1.76	0.24704	4.69	1.76	0.24704	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.348956	0.22613	N	0.057818	T	0.28532	0.0706	L	0.39467	1.215	0.30175	N	0.800905	B;B;B;B	0.17268	0.008;0.021;0.008;0.017	B;B;B;B	0.15484	0.008;0.013;0.008;0.004	T	0.14559	-1.0468	10	0.40728	T	0.16	-6.8099	4.832	0.13445	0.1951:0.0:0.6348:0.1701	.	72;122;84;84	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	107;84;84;84;89;72;122	ENSP00000419587:R107H;ENSP00000241071:R84H;ENSP00000353821:R84H;ENSP00000419602:R84H;ENSP00000417179:R89H;ENSP00000420239:R72H;ENSP00000416558:R122H	ENSP00000241071:R84H	R	+	2	0	0	FBXO24	100025845	100025845	0.604000	0.26932	0.998000	0.56505	0.943000	0.58893	0.030000	0.13688	0.175000	0.19841	0.555000	0.69702	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1		2	2	2	0		0	0	58		58	55	1	2.060000	-19.999990	1	0.170000				44	42		202	194	1		1	1		0	0	58	0		1	2.263122e-01	0	2	0	3	0	44	202
FBXO24	26261	broad.mit.edu	37	7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	182					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552																																						ENST00000241071.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(544-546)cGt>cAt		F-box protein 24							76.0	68.0	71.0					7																	100189512		2203	4300	6503	SO:0001583	missense	26261	2	121412	38				g.chr7:100189512G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.545G>A	chr7.hg19:g.100189512G>A	ENSP00000241071:p.Arg182His	0					FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H	p.R182H	NM_033506.2	NP_277041.1	1	2	3	2.000345	O75426	FBX24_HUMAN		4	867	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	1	1	hg19	c.545G>A	CCDS5698.1	1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450584	0.63290	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50001	2.38;0.76;0.76;2.39;2.37	4.89	4.01	0.46588	4.89	4.01	0.46588	.	0.099062	0.44902	D	0.000415	T	0.29556	0.0737	N	0.08118	0	0.33463	D	0.585146	P;D;P;D	0.57257	0.923;0.968;0.923;0.979	B;B;B;P	0.47786	0.247;0.354;0.247;0.557	T	0.35051	-0.9804	9	.	.	.	-10.6204	7.7322	0.28793	0.1875:0.0:0.8125:0.0	.	170;220;182;168	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	182;168;168;187;170;220	ENSP00000241071:R182H;ENSP00000353821:R168H;ENSP00000419602:R168H;ENSP00000420239:R170H;ENSP00000416558:R220H	.	R	+	2	0	0	FBXO24	100027448	100027448	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.124000	0.50461	1.296000	0.44742	0.558000	0.71614	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.978627	1	0.170000				79	76		366	354	1		1	0		0	0	64	0		1	3.235858e-02	0	1	0	1	0	79	366
FBXO24	26261	broad.mit.edu	37	7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	190					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577																																						ENST00000241071.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				28						c.(568-570)gAc>gGc		F-box protein 24							49.0	47.0	48.0					7																	100190416		2203	4300	6503	SO:0001583	missense	26261	0	0					g.chr7:100190416A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.569A>G	chr7.hg19:g.100190416A>G	ENSP00000241071:p.Asp190Gly	0					FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G	p.D190G	NM_033506.2	NP_277041.1	1	2	3	2.000345	O75426	FBX24_HUMAN		5	891	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	1	1	hg19	c.569A>G	CCDS5698.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386392	0.82902	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.63255	1.45;-0.03;-0.03;1.46;1.41	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.67078	0.2855	N	0.19112	0.55	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.71764	-0.4494	10	0.72032	D	0.01	-27.7735	14.0457	0.64704	1.0:0.0:0.0:0.0	.	178;228;190;176	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	G	190;176;176;178;228	ENSP00000241071:D190G;ENSP00000353821:D176G;ENSP00000419602:D176G;ENSP00000420239:D178G;ENSP00000416558:D228G	ENSP00000241071:D190G	D	+	2	0	0	FBXO24	100028352	100028352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.395000	0.66291	2.212000	0.71576	0.456000	0.33151	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.617600	1	0.170000				32	32		138	134	1		1	0		0	0	36	0		1	0	0	1	0	0	0	32	138
FBXO24	26261	broad.mit.edu	37	7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	0					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632																																						ENST00000241071.6	1.000000	0.350000	7.200000e-01	4.500000e-01	0.560000	0.595438	0.560000	0.540000																										0				28						c.(1741-1743)taA>taC		F-box protein 24							34.0	35.0	35.0					7																	100198522		2202	4294	6496	SO:0001578	stop_lost	26261	0	0					g.chr7:100198522A>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1743A>C	chr7.hg19:g.100198522A>C	ENSP00000241071:p.*581Tyrext*5	0					FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	p.*581Y	NM_033506.2	NP_277041.1	1	2	3	2.000345	O75426	FBX24_HUMAN		10	2065	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D4|B4DX91|B4DY42|Q9H0G1	Nonstop_Mutation	SNP	ENST00000241071.6	0	1	hg19	c.1743A>C	CCDS5698.1	0	.	.	.	.	.	.	.	.	.	.	a	3.521	-0.097685	0.07010	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	.	.	.	4.22	4.22	0.49857	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2759	0.20981	0.8892:0.0:0.1108:0.0	.	.	.	.	Y	581;569;619	.	.	X	+	3	2	2	FBXO24	100036458	100036458	0.991000	0.36638	0.605000	0.28930	0.024000	0.10985	2.719000	0.47244	1.779000	0.52309	0.373000	0.22412	TAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-19.981130	1	0.170000				20	19		408	403	0		1	0		0	0	64	0		9.999948e-01	7.180326e-03	0	0	0	3	0	20	408
PCOLCE	5118	broad.mit.edu	37	7	100201161	100201161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	68	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592																																						ENST00000223061.5	1.000000	0.810000	1	9.900000e-01	0.990000	0.986005	0.990000	1.000000																										0				23						c.(202-204)acG>acA		procollagen C-endopeptidase enhancer							70.0	59.0	63.0					7																	100201161		2203	4300	6503	SO:0001630	splice_region_variant	5118	0	0					g.chr7:100201161G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.204+1G>A	chr7.hg19:g.100201161G>A		0					PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	p.T68T	NM_002593.3	NP_002584.2	1	2	3	2.000345	Q15113	PCOC1_HUMAN		2	484	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		B2R9E1|O14550	Splice_Site	SNP	ENST00000223061.5	0	1	hg19	c.204G>A	CCDS5700.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.221999	1	0.170000	NM_002593	Silent		21	21		177	174	0		1	0		0	0	25	0		9.999980e-01	9.999976e-01	0	0	0	192	0	21	177
PCOLCE	5118	broad.mit.edu	37	7	100201642	100201642	+	Missense_Mutation	SNP	G	G	A	rs558587040	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201642G>A	ENST00000223061.5	+	3	545	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGCACCCCGCCTGCCGCTA	0.672																																						ENST00000223061.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(265-267)Gcc>Acc		procollagen C-endopeptidase enhancer							65.0	69.0	67.0					7																	100201642		2203	4300	6503	SO:0001583	missense	5118	12	121410	42				g.chr7:100201642G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.265G>A	chr7.hg19:g.100201642G>A	ENSP00000223061:p.Ala89Thr	0					PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	p.A89T	NM_002593.3	NP_002584.2	1	2	3	2.000345	Q15113	PCOC1_HUMAN		3	545	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	1	0	hg19	c.265G>A	CCDS5700.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731645	0.30684	.	.	ENSG00000106333	ENST00000223061	T	0.18016	2.24	4.6	-4.01	0.04045	4.6	-4.01	0.04045	CUB (5);	1.202500	0.05722	N	0.597935	T	0.03827	0.0108	N	0.00926	-1.1	0.20403	N	0.999906	B;B	0.20459	0.011;0.045	B;B	0.17098	0.006;0.017	T	0.38394	-0.9663	10	0.02654	T	1	-8.2624	5.337	0.15963	0.2589:0.0:0.1869:0.5542	.	89;89	B4DPJ4;Q15113	.;PCOC1_HUMAN	T	89	ENSP00000223061:A89T	ENSP00000223061:A89T	A	+	1	0	0	PCOLCE	100039578	100039578	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-0.651000	0.05372	-0.499000	0.06623	0.462000	0.41574	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	1	0	1		20	10	2	1		1	1	88		88	84	1	2.060000	-0.816515	0	0.170000	NM_002593			90	88		440	428	0		1	0		1	0	88	0		1	9.999994e-01	0	0	0	200	0	90	440
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731																																						ENST00000393950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.R22R(1)	lung(1)	16						c.(64-66)cgG>cgA		motile sperm domain containing 3							14.0	17.0	16.0					7																	100210480		2114	4183	6297	SO:0001819	synonymous_variant	64598	0	0					g.chr7:100210480G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.66G>A	chr7.hg19:g.100210480G>A		0					MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000424091.2_Silent_p.R22R	p.R22R	NM_023948.4	NP_076438.1	1	2	3	2.000345	O75425	MSPD3_HUMAN		1	348	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	1	1	hg19	c.66G>A	CCDS5701.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-3.936436	1	0.170000	NM_023948			68	64		243	243	0		1	1		0	0	51	0		1	9.993503e-01	0	11	0	31	0	68	243
MOSPD3	64598	broad.mit.edu	37	7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	77	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582																																						ENST00000393950.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(229-231)tAc>tGc		motile sperm domain containing 3							231.0	203.0	212.0					7																	100210841		2203	4300	6503	SO:0001583	missense	64598	0	0					g.chr7:100210841A>G	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.230A>G	chr7.hg19:g.100210841A>G	ENSP00000377522:p.Tyr77Cys	0					MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C	p.Y77C	NM_023948.4	NP_076438.1	1	2	3	2.000345	O75425	MSPD3_HUMAN		2	512	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	1	1	hg19	c.230A>G	CCDS5701.1	1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763357	0.69763	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.85	3.85	0.44370	3.85	3.85	0.44370	PapD-like (2);	0.259259	0.26746	N	0.022719	D	0.82595	0.5071	L	0.61036	1.89	0.45216	D	0.998222	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.88	D	0.84133	0.0413	10	0.87932	D	0	-1.438	11.3049	0.49329	1.0:0.0:0.0:0.0	.	77;77	C9JE89;O75425	.;MSPD3_HUMAN	C	77;77;77;77;77;63	ENSP00000223054:Y77C;ENSP00000417276:Y77C;ENSP00000368842:Y77C;ENSP00000377522:Y77C;ENSP00000404626:Y77C	ENSP00000223054:Y77C	Y	+	2	0	0	MOSPD3	100048777	100048777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.788000	0.47806	1.994000	0.58287	0.374000	0.22700	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	1	0	1		2	2	2	0		0	0	200		200	197	1	2.060000	-20.000000	1	0.170000	NM_023948			199	193		778	759	1		1	1		0	0	200	0		1	1	0	33	0	62	0	199	778
GIGYF1	64599	broad.mit.edu	37	7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	178					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647																																						ENST00000275732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(532-534)gGc>gAc		GRB10 interacting GYF protein 1							40.0	41.0	41.0					7																	100284433		2203	4300	6503	SO:0001583	missense	64599	0	0					g.chr7:100284433C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.533G>A	chr7.hg19:g.100284433C>T	ENSP00000275732:p.Gly178Asp	0					GIGYF1_ENST00000471340.2_Intron	p.G178D	NM_022574.4	NP_072096.2	1	2	3	2.000345	O75420	PERQ1_HUMAN		7	1742	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	1	1	hg19	c.533G>A	CCDS34708.1	1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570442	0.65765	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.06	0.47325	4.96	4.06	0.47325	.	0.063561	0.64402	D	0.000008	D	0.84991	0.5595	M	0.65498	2.005	0.58432	D	0.999991	D	0.65815	0.995	P	0.53649	0.731	T	0.82372	-0.0490	10	0.19147	T	0.46	-22.4749	13.0391	0.58889	0.0:0.8368:0.1632:0.0	.	178	O75420	PERQ1_HUMAN	D	178	ENSP00000275732:G178D	ENSP00000275732:G178D	G	-	2	0	0	GIGYF1	100122369	100122369	0.148000	0.22702	0.996000	0.52242	0.870000	0.49936	1.120000	0.31271	1.288000	0.44600	0.563000	0.77884	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.348664	1	0.170000	NM_022574			56	55		280	275	1		1	1		0	0	56	0		1	9.498871e-01	0	7	0	20	0	56	280
GIGYF1	64599	broad.mit.edu	37	7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	147					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652																																						ENST00000275732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(439-441)Cga>Tga		GRB10 interacting GYF protein 1							72.0	79.0	77.0					7																	100284964		2203	4300	6503	SO:0001587	stop_gained	64599	0	0					g.chr7:100284964G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.439C>T	chr7.hg19:g.100284964G>A	ENSP00000275732:p.Arg147*	0					GIGYF1_ENST00000471340.2_Intron	p.R147*	NM_022574.4	NP_072096.2	1	2	3	2.000345	O75420	PERQ1_HUMAN		5	1648	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	0	1	hg19	c.439C>T	CCDS34708.1	1	.	.	.	.	.	.	.	.	.	.	.	47	13.755068	0.99761	.	.	ENSG00000146830	ENST00000275732	.	.	.	5.21	2.19	0.27852	5.21	2.19	0.27852	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0535	12.4892	0.55891	0.0:0.0:0.569:0.431	.	.	.	.	X	147	.	ENSP00000275732:R147X	R	-	1	2	2	GIGYF1	100122900	100122900	0.981000	0.34729	0.170000	0.22879	0.932000	0.56968	1.770000	0.38532	0.525000	0.28522	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	1	0	1		2	2	2	0		0	0	163		163	157	1	2.060000	-20.000000	1	0.170000	NM_022574			156	153		752	737	1		1	1		0	0	163	0		1	8.965344e-01	0	3	0	18	0	156	752
EPO	2056	broad.mit.edu	37	7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	186					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACACAGGGGAGGCCTGCAGGA	0.582																																						ENST00000252723.2	1.000000	0.180000	4.000000e-01	2.300000e-01	0.300000	0.348647	0.300000	0.290000																										0				12						c.(556-558)gaG>gaT		erythropoietin							88.0	89.0	89.0					7																	100320732		2203	4300	6503	SO:0001583	missense	2056	0	0					g.chr7:100320732G>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.558G>T	chr7.hg19:g.100320732G>T	ENSP00000252723:p.Glu186Asp	0						p.E186D	NM_000799.2	NP_000790.2	1	2	3	2.000345	P01588	EPO_HUMAN		5	739	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	1	1	hg19	c.558G>T	CCDS5705.1	0	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546256	0.45383	.	.	ENSG00000130427	ENST00000252723	T	0.50548	0.74	5.27	4.37	0.52481	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.330168	0.29376	N	0.012328	T	0.47284	0.1437	L	0.52759	1.655	0.33214	D	0.553841	D;D	0.54601	0.967;0.967	P;P	0.48901	0.594;0.594	T	0.60485	-0.7254	10	0.46703	T	0.11	-12.7599	10.3495	0.43927	0.0957:0.0:0.9043:0.0	.	185;186	B7ZKK5;P01588	.;EPO_HUMAN	D	186	ENSP00000252723:E186D	ENSP00000252723:E186D	E	+	3	2	2	EPO	100158668	100158668	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.638000	0.37165	2.616000	0.88540	0.643000	0.83706	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	0	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-3.149547	1	0.170000	NM_000799			17	17		663	650	0		1			0	0	121	0		9.999588e-01	0	0	0	0	0	0	17	663
ZAN	7455	broad.mit.edu	37	7	100352880	100352880	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000348028.3	+	0	3321				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			GCTACGAATCCTGTGCTTGTC	0.567																																						ENST00000348028.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139								zonadhesin (gene/pseudogene)							136.0	142.0	140.0					7																	100352880		1958	4141	6099			7455	0	0					g.chr7:100352880C>T	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		chr7.hg19:g.100352880C>T		0					ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA				1	2	3	2.000345	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)	0	3321	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	1	0	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1		2	2	2	0		0	0	207		207	206	1	2.060000	-20.000000	1	0.170000	NM_003386			186	182		835	820	1		1			0	0	207	0		1	0	0	0	0	0	0	186	835
ZAN	7455	broad.mit.edu	37	7	100364868	100364868	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000348028.3	+	0	5013				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			TGCTCAGAGGCTGTAAGGTCA	0.607																																						ENST00000348028.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				139								zonadhesin (gene/pseudogene)							48.0	48.0	48.0					7																	100364868		2136	4233	6369			7455	0	0					g.chr7:100364868C>T	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		chr7.hg19:g.100364868C>T		0					ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA				1	2	3	2.000345	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)	0	5013	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	1	0	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_003386			37	36		169	166	1		1			0	0	40	0		1	0	0	0	0	0	0	37	169
ZAN	7455	broad.mit.edu	37	7	100365518	100365518	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000348028.3	+	0	5090				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			ATAAGGCTCAGCAGCAACCTC	0.602																																						ENST00000348028.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139								zonadhesin (gene/pseudogene)							62.0	66.0	65.0					7																	100365518		2084	4210	6294			7455	0	0					g.chr7:100365518G>A	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		chr7.hg19:g.100365518G>A		0					ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA				1	2	3	2.000345	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)	0	5090	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	1	0	hg19			1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696617	0.88830	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.77	4.77	0.60923	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.51477	D	0.000082	T	0.76751	0.4031	M	0.84082	2.675	0.22754	N	0.998771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69658	-0.5086	10	0.66056	D	0.02	.	13.9911	0.64367	0.0:0.0:1.0:0.0	.	1642;1642	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1642;1642;1642;219	ENSP00000445943:S1642N;ENSP00000445091:S1642N;ENSP00000444427:S1642N;ENSP00000441117:S219N	ENSP00000423579:S1642N	S	+	2	0	0	ZAN	100203454	100203454	0.997000	0.39634	0.678000	0.29963	0.019000	0.09904	3.953000	0.56699	2.586000	0.87340	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003386			46	44		200	196	1		1			0	0	57	0		1	0	0	0	0	0	0	46	200
ZAN	7455	broad.mit.edu	37	7	100369522	100369522	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000348028.3	+	0	5469				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			TTGCCAGTTGCGTGCATGGTC	0.657																																						ENST00000348028.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				139								zonadhesin (gene/pseudogene)							56.0	60.0	59.0					7																	100369522		2148	4253	6401			7455	3	121164	33				g.chr7:100369522C>T	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		chr7.hg19:g.100369522C>T		0					ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA				1	2	3	2.000345	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)	0	5469	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	1	0	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_003386			46	45		195	192	1		1			0	0	41	0		1	0	0	0	0	0	0	46	195
ZAN	7455	broad.mit.edu	37	7	100389759	100389759	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000348028.3	+	0	7865				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			TGGCCCCAGAGCCCTTCCAAG	0.667																																						ENST00000348028.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993709	0.990000	1.000000																										0				139								zonadhesin (gene/pseudogene)							22.0	25.0	24.0					7																	100389759		1988	4157	6145			7455	0	0					g.chr7:100389759G>T	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		chr7.hg19:g.100389759G>T		0					ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA				1	2	3	2.000345	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)	0	7865	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	0	1	hg19			1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.12|13.12	2.141535|2.141535	0.37825|0.37825	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76839|0.25579	-1.05;-1.05;-1.05|1.79	3.29|3.29	0.379|0.379	0.16213|0.16213	3.29|3.29	0.379|0.379	0.16213|0.16213	Uncharacterised domain, cysteine-rich (2);|.	0.499517|.	0.16268|.	N|.	0.221914|.	T|T	0.11024|0.11024	0.0269|0.0269	N|N	0.08118|0.08118	0|0	0.21386|0.21386	N|N	0.999706|0.999706	B;B|B	0.21071|0.32031	0.041;0.051|0.352	B;B|B	0.24394|0.30716	0.031;0.053|0.119	T|T	0.23226|0.23226	-1.0194|-1.0194	10|9	0.29301|0.87932	T|D	0.29|0	.|.	3.0222|3.0222	0.06079|0.06079	0.2412:0.0:0.5471:0.2117|0.2412:0.0:0.5471:0.2117	.|.	2566;2567|983	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	D|I	2566|983	ENSP00000445943:E2566D;ENSP00000445091:E2566D;ENSP00000444427:E2566D|ENSP00000441117:S983I	ENSP00000445091:E2566D|ENSP00000423579:S2567I	E|S	+|+	3|2	2|0	2|0	ZAN|ZAN	100227695|100227695	100227695|100227695	0.323000|0.323000	0.24643|0.24643	0.951000|0.951000	0.38953|0.38953	0.986000|0.986000	0.74619|0.74619	-0.479000|-0.479000	0.06567|0.06567	0.067000|0.067000	0.16545|0.16545	0.556000|0.556000	0.70494|0.70494	GAG|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-19.999180	1	0.170000	NM_003386			14	14		94	94	0		1			0	0	15	0		9.998236e-01	0	0	0	0	0	0	14	94
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.P789L(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)					AATGGCCTCCGGGGCAGTCCA	0.577																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.P789L(1)	lung(1)	47						c.(2365-2367)cCg>cTg		EPH receptor B4							113.0	100.0	105.0					7																	100404160		2203	4300	6503	SO:0001583	missense	2050	1	121412	30				g.chr7:100404160G>A	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.2366C>T	chr7.hg19:g.100404160G>A	ENSP00000350896:p.Pro789Leu	0					EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	p.P789L	NM_004444.4	NP_004435.3	1	2	3	2.000345	P54760	EPHB4_HUMAN		14	2834	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	1	1	hg19	c.2366C>T	CCDS5706.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	0	EPHB4	100242096	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-2.693488	1	0.170000	NM_004444			74	75		402	391	1		1	1		0	0	107	0		1	1	0	89	0	157	0	74	402
EPHB4	2050	broad.mit.edu	37	7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	220	Cys-rich.				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)			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)					CAGCTACCGGCCACGGGCACA	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999910	0.990000	1.000000																										0				47						c.(658-660)Gcc>Acc		EPH receptor B4							31.0	33.0	32.0					7																	100420043		2203	4298	6501	SO:0001583	missense	2050	0	0					g.chr7:100420043C>T	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.658G>A	chr7.hg19:g.100420043C>T	ENSP00000350896:p.Ala220Thr	0					RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	p.A220T	NM_004444.4	NP_004435.3	1	2	3	2.000345	P54760	EPHB4_HUMAN		4	1126	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	1	1	hg19	c.658G>A	CCDS5706.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887613	0.33348	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73469	-0.75;-0.74	5.76	4.88	0.63580	5.76	4.88	0.63580	.	0.000000	0.53938	D	0.000050	T	0.61751	0.2372	L	0.37850	1.14	0.30781	N	0.741949	B;B;P;P;P	0.40875	0.0;0.002;0.498;0.495;0.731	B;B;B;B;B	0.36464	0.0;0.001;0.115;0.169;0.225	T	0.67425	-0.5674	10	0.56958	D	0.05	.	8.5475	0.33430	0.0:0.7661:0.1522:0.0816	.	220;220;220;220;220	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	T	220	ENSP00000353833:A220T;ENSP00000350896:A220T	ENSP00000350896:A220T	A	-	1	0	0	EPHB4	100257979	100257979	0.998000	0.40836	0.973000	0.42090	0.006000	0.05464	2.879000	0.48522	1.432000	0.47375	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_004444			15	15		51	51	1		1	1		0	0	14	0		9.999371e-01	9.999991e-01	0	48	0	58	0	15	51
EPHB4	2050	broad.mit.edu	37	7	100420110	100420110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	197	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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)					TCAGCTGGGCGCACTTTTTGT	0.642																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				47						c.(589-591)tgC>tgT		EPH receptor B4							58.0	59.0	58.0					7																	100420110		2203	4300	6503	SO:0001819	synonymous_variant	2050	0	0					g.chr7:100420110G>A	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.591C>T	chr7.hg19:g.100420110G>A		0					RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	p.C197C	NM_004444.4	NP_004435.3	1	2	3	2.000345	P54760	EPHB4_HUMAN		4	1059	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	1	1	hg19	c.591C>T	CCDS5706.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_004444			28	28		116	114	1		1	1		0	0	34	0		1	1	0	46	0	105	0	28	116
EPHB4	2050	broad.mit.edu	37	7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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)					TTCGTAGGTGCGCACGCTGTG	0.687																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.992194	0.990000	1.000000																										0				47						c.(166-168)cGc>cAc		EPH receptor B4																																				SO:0001583	missense	2050	0	0					g.chr7:100421510C>T	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.167G>A	chr7.hg19:g.100421510C>T	ENSP00000350896:p.Arg56His	0					RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	p.R56H	NM_004444.4	NP_004435.3	1	2	3	2.000345	P54760	EPHB4_HUMAN		3	635	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	0	1	hg19	c.167G>A	CCDS5706.1	1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261777	0.80358	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.12465	2.68;2.68	4.93	4.93	0.64822	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	T	0.29914	0.0748	L	0.46947	1.48	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.00849	-1.1541	10	0.28530	T	0.3	.	15.9831	0.80127	0.0:1.0:0.0:0.0	.	56;56;56;56;56	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	H	56	ENSP00000353833:R56H;ENSP00000350896:R56H	ENSP00000350896:R56H	R	-	2	0	0	EPHB4	100259446	100259446	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	7.763000	0.85283	2.452000	0.82932	0.556000	0.70494	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.995390	1	0.170000	NM_004444			13	13		88	88	1		1	1		0	0	10	0		9.996554e-01	9.891250e-01	0	24	0	31	0	13	88
TRIP6	7205	broad.mit.edu	37	7	100465482	100465482	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6						focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632																																						ENST00000200457.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.e2-1		thyroid hormone receptor interactor 6							72.0	86.0	81.0					7																	100465482		2202	4300	6502	SO:0001630	splice_region_variant	7205	0	0					g.chr7:100465482G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.110-1G>T	chr7.hg19:g.100465482G>T		0							NM_003302.2	NP_003293.2	1	2	3	2.000345	Q15654	TRIP6_HUMAN		2	469	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Splice_Site	SNP	ENST00000200457.4	1	1	hg19		CCDS5708.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236992	0.58886	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.55	4.55	0.56014	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6449	0.56729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	TRIP6	100303418	100303418	0.997000	0.39634	0.994000	0.49952	0.848000	0.48234	2.957000	0.49137	2.372000	0.80975	0.561000	0.74099	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1		2	2	2	0		0	0	207		207	205	1	2.060000	-20.000000	1	0.170000	NM_003302	Intron		155	152		801	772	1		1	1		0	0	207	0		1	1.889178e-01	0	2	0	3	0	155	801
TRIP6	7205	broad.mit.edu	37	7	100470363	100470363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470363C>T	ENST00000200457.4	+	8	1656	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000432932.1_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	432	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTACAAGTGCGAGGTCAGGG	0.577																																						ENST00000200457.4	1.000000	0.240000	6.100000e-01	3.300000e-01	0.450000	0.487072	0.450000	0.430000																										0				14						c.(1294-1296)tgC>tgT		thyroid hormone receptor interactor 6							91.0	73.0	79.0					7																	100470363		2203	4300	6503	SO:0001819	synonymous_variant	7205	1	121412	34				g.chr7:100470363C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1296C>T	chr7.hg19:g.100470363C>T		0					SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000457580.2_5'Flank	p.C432C	NM_003302.2	NP_003293.2	1	2	3	2.000345	Q15654	TRIP6_HUMAN		8	1656	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	0	1	hg19	c.1296C>T	CCDS5708.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	0	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-12.609330	1	0.170000	NM_003302			12	11		318	309	0		1	0		0	0	55	0		9.989668e-01	9.997006e-01	0	1	0	388	0	12	318
TRIP6	7205	broad.mit.edu	37	7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000432932.1_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	462	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577																																						ENST00000200457.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1384-1386)gCc>gAc		thyroid hormone receptor interactor 6							87.0	79.0	82.0					7																	100470879		2203	4300	6503	SO:0001583	missense	7205	0	0					g.chr7:100470879C>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1385C>A	chr7.hg19:g.100470879C>A	ENSP00000200457:p.Ala462Asp	0					SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000457580.2_5'Flank	p.A462D	NM_003302.2	NP_003293.2	1	2	3	2.000345	Q15654	TRIP6_HUMAN		9	1745	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	1	1	hg19	c.1385C>A	CCDS5708.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742577	0.89573	.	.	ENSG00000087077	ENST00000200457	T	0.60424	0.19	4.37	4.37	0.52481	4.37	4.37	0.52481	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.74688	-0.3581	10	0.52906	T	0.07	.	14.4634	0.67467	0.0:1.0:0.0:0.0	.	462	Q15654	TRIP6_HUMAN	D	462	ENSP00000200457:A462D	ENSP00000200457:A462D	A	+	2	0	0	TRIP6	100308815	100308815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.709000	0.68384	2.268000	0.75426	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_003302			74	73		414	403	1		1	1		0	0	93	0		1	1	0	209	0	197	0	74	414
SRRT	51593	broad.mit.edu	37	7	100482892	100482892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482892C>T	ENST00000347433.4	+	10	1376	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SRRT_ENST00000457580.2_Silent_p.D406D|SRRT_ENST00000388793.4_Silent_p.D405D|SRRT_ENST00000432932.1_Silent_p.D405D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	406					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAAGGACGCCGCGGGGC	0.592																																						ENST00000347433.4	1.000000	0.120000	3.100000e-01	1.700000e-01	0.220000	0.277429	0.220000	0.220000																										0				40						c.(1216-1218)gaC>gaT		serrate, RNA effector molecule							53.0	60.0	58.0					7																	100482892		2203	4300	6503	SO:0001819	synonymous_variant	51593	4	121406	37				g.chr7:100482892C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1218C>T	chr7.hg19:g.100482892C>T		0					SRRT_ENST00000388793.4_Silent_p.D405D|SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D	p.D406D			1	2	3	2.000345	Q9BXP5	SRRT_HUMAN		10	1376	+			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	0	1	hg19	c.1218C>T	CCDS34709.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	0	0	0		2	2	2	0		0	0	105		105	104	1	2.060000	-9.694450	1	0.170000	NM_015908			13	13		686	675	0		1	1		0	0	105	0		9.994832e-01	8.244196e-01	0	9	0	161	0	13	686
SRRT	51593	broad.mit.edu	37	7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000347433.4	+	10	1446	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	SRRT_ENST00000457580.2_Missense_Mutation_p.P430T|SRRT_ENST00000388793.4_Missense_Mutation_p.P429T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	430					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACATCGCGCCCAACATCTC	0.642																																						ENST00000347433.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1288-1290)Ccc>Acc		serrate, RNA effector molecule							44.0	44.0	44.0					7																	100482962		2203	4300	6503	SO:0001583	missense	51593	0	0					g.chr7:100482962C>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1288C>A	chr7.hg19:g.100482962C>A	ENSP00000314491:p.Pro430Thr	0					SRRT_ENST00000388793.4_Missense_Mutation_p.P429T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T	p.P430T			1	2	3	2.000345	Q9BXP5	SRRT_HUMAN		10	1446	+			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	1	1	hg19	c.1288C>A	CCDS34709.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774444	0.90108	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.994	T	0.72134	-0.4382	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	429;429;430;430	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	430;429;429;430;60	ENSP00000416553:P430T;ENSP00000373445:P429T;ENSP00000391852:P429T;ENSP00000314491:P430T	ENSP00000314491:P430T	P	+	1	0	0	SRRT	100320898	100320898	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	6.751000	0.74893	2.595000	0.87683	0.655000	0.94253	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	1	0	0		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_015908			89	89		294	285	1		1	1		0	0	54	0		1	1	0	39	0	92	0	89	294
ACHE	43	broad.mit.edu	37	7	100488797	100488797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100488797G>A	ENST00000412389.1	-	3	1871	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000302913.4_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S|ACHE_ENST00000241069.5_Silent_p.S572S|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.S572S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	572					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)			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)	TACCGGTGGCGCTGAGCAATT	0.701																																						ENST00000412389.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999861	0.990000	1.000000																										0				16						c.(1714-1716)agC>agT		acetylcholinesterase (Yt blood group)	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)						6.0	7.0	7.0					7																	100488797		2084	4116	6200	SO:0001819	synonymous_variant	43	0	0					g.chr7:100488797G>A		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.1716C>T	chr7.hg19:g.100488797G>A		0					ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000411582.1_Silent_p.S572S|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000302913.4_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S	p.S572S			1	2	3	2.000345	P22303	ACES_HUMAN		3	1871	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	0	1	hg19	c.1716C>T	CCDS5709.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	0	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_015831			19	19		88	87	0		1	1		0	0	15	0		9.999948e-01	9.999774e-01	0	44	0	47	0	19	88
ACHE	43	broad.mit.edu	37	7	100490798	100490798	+	Missense_Mutation	SNP	G	G	T	rs376342806		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100490798G>T	ENST00000412389.1	-	1	1211	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000302913.4_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	352					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)			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)	GCAGGCCGTGGAAGTCTCCCG	0.617																																						ENST00000412389.1	1.000000	0.460000	1	6.400000e-01	0.880000	0.843059	0.880000	1.000000																										0				16						c.(1054-1056)ttC>ttA		acetylcholinesterase (Yt blood group)	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)						65.0	53.0	57.0					7																	100490798		2203	4300	6503	SO:0001583	missense	43	0	0					g.chr7:100490798G>T		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.1056C>A	chr7.hg19:g.100490798G>T	ENSP00000394976:p.Phe352Leu	0					ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000302913.4_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L	p.F352L			1	2	3	2.000345	P22303	ACES_HUMAN		1	1211	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	0	1	hg19	c.1056C>A	CCDS5709.1	1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366739	0.24771	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.03	0.554	0.17241	5.03	0.554	0.17241	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.52364	1.645	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.997;0.998	T	0.66810	-0.5829	10	0.41790	T	0.15	.	7.9551	0.30038	0.4145:0.0:0.5855:0.0	.	352;352;352;352	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	L	352	ENSP00000403474:F352L;ENSP00000241069:F352L;ENSP00000414858:F352L;ENSP00000303211:F352L;ENSP00000394976:F352L;ENSP00000397143:F352L;ENSP00000399725:F352L;ENSP00000404865:F352L	ENSP00000241069:F352L	F	-	3	2	2	ACHE	100328734	100328734	1.000000	0.71417	0.800000	0.32199	0.191000	0.23601	2.670000	0.46833	0.166000	0.19597	-0.439000	0.05793	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	0	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-15.811110	1	0.170000	NM_015831			11	11		142	140	0		1	1		0	0	26	0		9.984169e-01	9.999468e-01	0	47	0	209	0	11	142
ACHE	43	broad.mit.edu	37	7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000412389.1	-	1	607	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000302913.4_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	151					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)			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)	GAAGCCACCCCCATAGATCCA	0.612																																						ENST00000412389.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(451-453)gGg>gTg		acetylcholinesterase (Yt blood group)	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)						79.0	82.0	81.0					7																	100491402		2203	4300	6503	SO:0001583	missense	43	0	0					g.chr7:100491402C>A		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.452G>T	chr7.hg19:g.100491402C>A	ENSP00000394976:p.Gly151Val	0					ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000302913.4_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V	p.G151V			1	2	3	2.000345	P22303	ACES_HUMAN		1	607	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	1	1	hg19	c.452G>T	CCDS5709.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079176	0.76528	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.86097	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-2.07	5.45	4.56	0.56223	5.45	4.56	0.56223	Carboxylesterase, type B (1);	0.050345	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98487	4.245	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	0.95826	0.8854	10	0.87932	D	0	.	11.8685	0.52507	0.0:0.9137:0.0:0.0863	.	151;151;151;151	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	151	ENSP00000403474:G151V;ENSP00000241069:G151V;ENSP00000414858:G151V;ENSP00000303211:G151V;ENSP00000394976:G151V;ENSP00000397143:G151V;ENSP00000399725:G151V;ENSP00000404865:G151V;ENSP00000396360:G151V	ENSP00000241069:G151V	G	-	2	0	0	ACHE	100329338	100329338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	1.274000	0.44362	0.561000	0.74099	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.113094	1	0.170000	NM_015831			125	123		475	463	1		1	1		0	0	99	0		1	1	0	81	0	104	0	125	475
MUC17	140453	broad.mit.edu	37	7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	18					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)			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)					GGTCCTCTCGCTCTTGCCCCC	0.662																																						ENST00000306151.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				343						c.(52-54)Ctc>Atc		mucin 17, cell surface associated							108.0	75.0	86.0					7																	100663468		2203	4300	6503	SO:0001583	missense	140453	0	0					g.chr7:100663468C>A	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.52C>A	chr7.hg19:g.100663468C>A	ENSP00000302716:p.Leu18Ile	0					RP11-395B7.4_ENST00000448513.1_RNA|RP11-395B7.4_ENST00000441882.1_RNA	p.L18I	NM_001040105.1	NP_001035194.1	1	2	3	2.000345	Q685J3	MUC17_HUMAN		1	116	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	1	1	hg19	c.52C>A	CCDS34711.1	1	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411676	0.11812	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	2.12	2.12	0.27331	2.12	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.49925	-0.8887	9	0.87932	D	0	.	7.7734	0.29021	0.0:1.0:0.0:0.0	.	18	Q685J3	MUC17_HUMAN	I	18	ENSP00000302716:L18I	ENSP00000302716:L18I	L	+	1	0	0	MUC17	100450188	100450188	0.000000	0.05858	0.075000	0.20258	0.003000	0.03518	-0.141000	0.10327	1.511000	0.48818	0.407000	0.27541	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001040105			50	49		157	155	1		1	1		0	0	32	0		1	9.909449e-01	0	14	0	12	0	50	157
MUC17	140453	broad.mit.edu	37	7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	517	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)			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)					ACAAGTATGTCTGTCAGCACC	0.498																																						ENST00000306151.4	1.000000	0.260000	3.900000e-01	3.000000e-01	0.330000	0.379158	0.330000	0.340000																										0				343						c.(1549-1551)tCt>tTt		mucin 17, cell surface associated							347.0	350.0	349.0					7																	100676247		2203	4300	6503	SO:0001583	missense	140453	0	0					g.chr7:100676247C>T	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.1550C>T	chr7.hg19:g.100676247C>T	ENSP00000302716:p.Ser517Phe	0						p.S517F	NM_001040105.1	NP_001035194.1	1	2	3	2.000345	Q685J3	MUC17_HUMAN		3	1614	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	1	1	hg19	c.1550C>T	CCDS34711.1	0	.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563994	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.45	-1.07	0.09968	1.45	-1.07	0.09968	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.51795	-0.8660	9	0.37606	T	0.19	.	6.7974	0.23732	0.4807:0.5193:0.0:0.0	.	517	Q685J3	MUC17_HUMAN	F	517	ENSP00000302716:S517F	ENSP00000302716:S517F	S	+	2	0	0	MUC17	100462967	100462967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.270000	0.09285	-0.529000	0.04317	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	0	1		2	2	2	0		0	0	652		652	644	1	2.060000	-3.214699	1	0.170000	NM_001040105			78	77		2645	2578	0		1	1		0	0	652	0		1	3.331677e-01	0	3	0	38	0	78	2645
MUC17	140453	broad.mit.edu	37	7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1715	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)			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)					AACAACTCCCGTTGACAACAG	0.468													g|||	4	0.000798722	0.0	0.0029	5008	,	,		24906	0.0		0.002	False		,,,				2504	0.0					ENST00000306151.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				343						c.(5143-5145)Gtt>Att		mucin 17, cell surface associated		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	216.0	226.0	222.0		5143	-1.4	0.0	7	dbSNP_134	222	23,8577	16.0+/-53.3	1,21,4278	no	missense	MUC17	NM_001040105.1	29	1,24,6478	AA,AG,GG		0.2674,0.0681,0.1999	benign	1715/4494	100679840	26,12980	2203	4300	6503	SO:0001583	missense	140453	219	121410	60				g.chr7:100679840G>A	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.5143G>A	chr7.hg19:g.100679840G>A	ENSP00000302716:p.Val1715Ile	0						p.V1715I	NM_001040105.1	NP_001035194.1	1	2	3	2.000345	Q685J3	MUC17_HUMAN		3	5207	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	1	0	hg19	c.5143G>A	CCDS34711.1	1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	3.260	-0.151386	0.06585	6.81E-4	0.002674	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	-1.39	0.08997	1.19	-1.39	0.08997	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.09377	0.004	T	0.47649	-0.9101	9	0.30078	T	0.28	.	4.7501	0.13056	0.3491:0.0:0.6509:0.0	.	1715	Q685J3	MUC17_HUMAN	I	1715	ENSP00000302716:V1715I	ENSP00000302716:V1715I	V	+	1	0	0	MUC17	100466560	100466560	0.063000	0.20901	0.000000	0.03702	0.004000	0.04260	1.975000	0.40569	-0.376000	0.07943	0.134000	0.15878	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1		2	2	2	0		0	0	411		411	409	1	2.060000	-2.297991	0	0.170000	NM_001040105			414	401		1585	1549	1		1	1		0	0	411	0		1	1	0	66	0	53	0	414	1585
MUC17	140453	broad.mit.edu	37	7	100681006	100681006	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	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)			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)					GAAGTCCTCTACTAACAAGTA	0.498																																						ENST00000306151.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				343						c.(6307-6309)ctA>ctG		mucin 17, cell surface associated							201.0	202.0	201.0					7																	100681006		2203	4300	6503	SO:0001819	synonymous_variant	140453	0	0					g.chr7:100681006A>G	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.6309A>G	chr7.hg19:g.100681006A>G		0						p.L2103L	NM_001040105.1	NP_001035194.1	1	2	3	2.000345	Q685J3	MUC17_HUMAN		3	6373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	1	1	hg19	c.6309A>G	CCDS34711.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1		2	2	2	0		0	0	337		337	338	1	2.060000	-20.000000	1	0.170000	NM_001040105			286	276		1256	1224	1		1	1		0	0	337	0		1	9.999975e-01	0	34	0	45	0	286	1256
TRIM56	81844	broad.mit.edu	37	7	100730866	100730866	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	91					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)			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)					CCCGGGCCTGTGGAGACCTGC	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(271-273)tgT>tgC		tripartite motif containing 56							31.0	39.0	37.0					7																	100730866		2122	4226	6348	SO:0001819	synonymous_variant	81844	0	0					g.chr7:100730866T>C	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.273T>C	chr7.hg19:g.100730866T>C		0						p.C91C	NM_030961.1	NP_112223.1	1	2	3	2.000345	Q9BRZ2	TRI56_HUMAN		3	570	+	Lung NSC(181;0.136)|all_lung(186;0.182)		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	1	1	hg19	c.273T>C	CCDS43625.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	1	0	0		2	2	2	0		0	0	65		65	63	1	2.060000	-20.000000	1	0.170000	NM_030961			94	93		462	450	0		1	1		0	0	65	0		1	3.393775e-01	0	2	0	5	0	94	462
TRIM56	81844	broad.mit.edu	37	7	100730929	100730929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	112					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)			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)					GCACCAGCACCGGGGGGCCGG	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(334-336)acC>acT		tripartite motif containing 56							17.0	21.0	20.0					7																	100730929		2017	4139	6156	SO:0001819	synonymous_variant	81844	3	119764	37				g.chr7:100730929C>T	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.336C>T	chr7.hg19:g.100730929C>T		0						p.T112T	NM_030961.1	NP_112223.1	1	2	3	2.000345	Q9BRZ2	TRI56_HUMAN		3	633	+	Lung NSC(181;0.136)|all_lung(186;0.182)		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	1	1	hg19	c.336C>T	CCDS43625.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_030961			74	74		256	253	1		1	1		0	0	40	0		1	5.677071e-01	0	5	0	3	0	74	256
SERPINE1	5054	broad.mit.edu	37	7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000223095.4	+	5	1038	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					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)			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)	AGGCTGCCCCGCCTCCTGGTT	0.592																																						ENST00000223095.4	1.000000	0.760000	1	9.200000e-01	0.990000	0.970716	0.990000	1.000000																										0				20						c.(880-882)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						98.0	85.0	90.0					7																	100777156		2203	4300	6503	SO:0001583	missense	5054	0	0					g.chr7:100777156G>A	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.881G>A	chr7.hg19:g.100777156G>A	ENSP00000223095:p.Arg294His	0					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	p.R294H	NM_000602.4	NP_000593.1	1	2	3	2.000345	P05121	PAI1_HUMAN		5	1038	+	Lung NSC(181;0.136)|all_lung(186;0.182)		B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	1	1	hg19	c.881G>A	CCDS5711.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287680	0.80803	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21932	1.98;1.98	5.47	5.47	0.80525	5.47	5.47	0.80525	Serpin domain (3);	0.061905	0.64402	D	0.000010	T	0.43233	0.1238	L	0.54323	1.7	0.48571	D	0.999676	D;D	0.89917	1.0;1.0	D;D	0.76575	0.977;0.988	T	0.14643	-1.0465	10	0.59425	D	0.04	.	17.1908	0.86879	0.0:0.0:1.0:0.0	.	279;294	F8WD53;P05121	.;PAI1_HUMAN	H	294;279;71	ENSP00000223095:R294H;ENSP00000396766:R279H	ENSP00000223095:R294H	R	+	2	0	0	SERPINE1	100563876	100563876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	2.724000	0.93272	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	1	0	0		2	2	2	0		0	0	78		78	76	1	2.060000	-10.610370	1	0.170000	NM_000602			30	30		294	286	0		1	0		0	0	78	0		1	1	0	1	0	1800	0	30	294
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	C	T	rs538551265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					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)			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)	TCGAGGTGAACGAGAGTGGCA	0.582																																						ENST00000223095.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				20						c.(1054-1056)aaC>aaT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						86.0	77.0	80.0					7																	100779051		2203	4300	6503	SO:0001819	synonymous_variant	5054	2	121410	38				g.chr7:100779051C>T	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.1056C>T	chr7.hg19:g.100779051C>T		0					SERPINE1_ENST00000445463.2_Silent_p.N337N	p.N352N	NM_000602.4	NP_000593.1	1	2	3	2.000345	P05121	PAI1_HUMAN		7	1213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	1	1	hg19	c.1056C>T	CCDS5711.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-19.999910	1	0.170000	NM_000602			52	53		311	308	0		1	0		0	0	79	0		1	1	0	1	0	1665	0	52	311
AP1S1	1174	broad.mit.edu	37	7	100802426	100802426	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	126					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582																																						ENST00000337619.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(376-378)acC>acA		adaptor-related protein complex 1, sigma 1 subunit							55.0	60.0	58.0					7																	100802426		2114	4210	6324	SO:0001819	synonymous_variant	1174	0	0					g.chr7:100802426C>A	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.378C>A	chr7.hg19:g.100802426C>A		0					MIR4653_ENST00000585107.1_RNA	p.T126T	NM_001283.3	NP_001274.1	1	2	3	2.000345	P61966	AP1S1_HUMAN		4	496	+	Lung NSC(181;0.168)|all_lung(186;0.215)		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Silent	SNP	ENST00000337619.5	1	1	hg19	c.378C>A	CCDS47669.1	1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040322	0.19669	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	-0.323	0.12709	4.82	-0.323	0.12709	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	3.3721	0.5486	0.00658	0.2789:0.337:0.1363:0.2478	.	.	.	.	H	168	.	.	P	+	2	0	0	AP1S1	100589146	100589146	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-2.737000	0.00801	-0.265000	0.09352	0.555000	0.69702	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_001283			36	35		120	117	1		1	1		0	0	39	0		1	1	0	162	0	275	0	36	120
MOGAT3	346606	broad.mit.edu	37	7	100842058	100842058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000379423.3_Silent_p.H114H|MOGAT3_ENST00000440203.2_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	114					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602																																						ENST00000223114.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(340-342)caC>caT		monoacylglycerol O-acyltransferase 3							80.0	85.0	83.0					7																	100842058		2203	4300	6503	SO:0001819	synonymous_variant	346606	0	0					g.chr7:100842058G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.342C>T	chr7.hg19:g.100842058G>A		0					MOGAT3_ENST00000379423.3_Silent_p.H114H|MOGAT3_ENST00000440203.2_Silent_p.H114H	p.H114H	NM_178176.2	NP_835470.1	1	2	3	2.000345	Q86VF5	MOGT3_HUMAN		4	508	-	Lung NSC(181;0.168)|all_lung(186;0.215)		Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	1	1	hg19	c.342C>T	CCDS5714.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000	NM_178176			100	99		445	430	1		1	1		0	0	102	0		1	7.569708e-01	0	6	0	8	0	100	445
MOGAT3	346606	broad.mit.edu	37	7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567																																						ENST00000223114.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999669	0.990000	1.000000																										0				22						c.(229-231)tCg>tTg		monoacylglycerol O-acyltransferase 3							172.0	166.0	168.0					7																	100843573		2203	4300	6503	SO:0001583	missense	346606	0	0					g.chr7:100843573G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.230C>T	chr7.hg19:g.100843573G>A	ENSP00000223114:p.Ser77Leu	0					MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L	p.S77L	NM_178176.2	NP_835470.1	1	2	3	2.000345	Q86VF5	MOGT3_HUMAN		3	396	-	Lung NSC(181;0.168)|all_lung(186;0.215)		Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	1	1	hg19	c.230C>T	CCDS5714.1	1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404648	0.25378	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.15139	2.45;2.45;2.45	4.65	-9.31	0.00646	4.65	-9.31	0.00646	.	1.276940	0.05401	N	0.540645	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	P;P	0.48162	0.906;0.676	B;B	0.37047	0.24;0.09	T	0.31052	-0.9957	10	0.11182	T	0.66	15.0773	1.1156	0.01714	0.305:0.2917:0.0947:0.3086	.	77;77	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	77	ENSP00000223114:S77L;ENSP00000403756:S77L;ENSP00000368734:S77L	ENSP00000223114:S77L	S	-	2	0	0	MOGAT3	100630293	100630293	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.916000	0.04029	-2.266000	0.00687	-0.189000	0.12847	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	1	0	1		2	2	2	0		0	0	210		210	207	1	2.060000	-3.318794	1	0.170000	NM_178176			105	105		890	861	1		1	1		0	0	210	0		1	5.813550e-01	0	3	0	15	0	105	890
PLOD3	8985	broad.mit.edu	37	7	100859508	100859508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	146					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	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 galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637																																						ENST00000223127.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(436-438)ccC>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						23.0	25.0	25.0					7																	100859508		2203	4300	6503	SO:0001819	synonymous_variant	8985	0	0					g.chr7:100859508G>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.438C>T	chr7.hg19:g.100859508G>A		0					ZNHIT1_ENST00000305105.2_5'Flank	p.P146P	NM_001084.4	NP_001075.1	1	2	3	2.000345	O60568	PLOD3_HUMAN		4	836	-	Lung NSC(181;0.168)|all_lung(186;0.215)		B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	1	1	hg19	c.438C>T	CCDS5715.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.885541	1	0.170000				63	63		227	221	1		1	1		0	0	47	0		1	1	0	123	0	246	0	63	227
MYL10	93408	broad.mit.edu	37	7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(568-570)ttC>ttA		myosin, light chain 10, regulatory							153.0	129.0	137.0					7																	101256954		2203	4300	6503	SO:0001583	missense	93408	0	0					g.chr7:101256954G>T	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.570C>A	chr7.hg19:g.101256954G>T	ENSP00000223167:p.Phe190Leu	0						p.F190L	NM_138403.4	NP_612412.2	1	2	3	2.000345	Q9BUA6	MYL10_HUMAN		7	747	-				Missense_Mutation	SNP	ENST00000223167.4	1	1	hg19	c.570C>A	CCDS34713.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575912	0.86645	.	.	ENSG00000106436	ENST00000223167	T	0.74315	-0.83	4.61	3.71	0.42584	4.61	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76026	0.3930	L	0.58583	1.82	0.52501	D	0.999956	D	0.55172	0.97	P	0.52758	0.708	T	0.75510	-0.3292	10	0.39692	T	0.17	.	10.8521	0.46775	0.0964:0.0:0.9036:0.0	.	190	Q9BUA6	MYL10_HUMAN	L	190	ENSP00000223167:F190L	ENSP00000223167:F190L	F	-	3	2	2	MYL10	101043674	101043674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.324000	0.52022	2.122000	0.65172	0.650000	0.86243	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-3.318966	1	0.170000	NM_138403			64	62		396	389	1		1	0		0	0	95	0		1	5.437471e-02	0	0	0	3	0	64	396
CUX1	1523	broad.mit.edu	37	7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000292535.7	+	2	144	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	36					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)			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						GCGGCTTATCGAACAGAGCCG	0.527																																						ENST00000292535.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(106-108)Gaa>Aaa		cut-like homeobox 1							137.0	127.0	130.0					7																	101559470		2203	4300	6503	SO:0001583	missense	1523	0	0					g.chr7:101559470G>A	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	ENST00000292535.7:c.106G>A	chr7.hg19:g.101559470G>A	ENSP00000292535:p.Glu36Lys	0					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron	p.E36K	NM_181552.3	NP_853530.2	1	2	3	2.000345	P39880	CUX1_HUMAN		2	144	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	1	1	hg19	c.106G>A	CCDS5721.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768339	0.90020	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T;T	0.70399	1.45;1.19;1.45;-0.48;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.076771	0.50627	D	0.000109	T	0.71995	0.3406	L	0.31664	0.95	0.80722	D	1	D;D;P;D;P;D	0.71674	0.998;0.985;0.882;0.991;0.669;0.998	P;B;B;P;B;P	0.54346	0.566;0.314;0.338;0.512;0.094;0.749	T	0.75317	-0.3360	10	0.66056	D	0.02	-27.7761	17.5093	0.87755	0.0:0.0:1.0:0.0	.	36;47;47;47;47;47	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	47;47;47;47;47;47;36;36;36;36;36	ENSP00000292538:E47K;ENSP00000449371:E47K;ENSP00000353401:E47K;ENSP00000377410:E47K;ENSP00000409745:E47K;ENSP00000414091:E47K;ENSP00000292535:E36K;ENSP00000446630:E36K;ENSP00000447373:E36K;ENSP00000450125:E36K;ENSP00000451558:E36K	ENSP00000292535:E36K	E	+	1	0	0	CUX1	101346190	101346190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	1		2	2	2	0		0	0	164		164	159	1	2.060000	-20.000000	1	0.170000	NM_001913			114	115		532	523	1		1	1		0	0	164	0		1	1	0	27	0	193	0	114	532
CUX1	1523	broad.mit.edu	37	7	101747666	101747666	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000292535.7	+	6	495	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000556210.1_Silent_p.L153L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	153					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)			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						TGAACAGACACTGAAGAACCA	0.398																																						ENST00000292535.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(457-459)Ctg>Ttg		cut-like homeobox 1							188.0	172.0	177.0					7																	101747666		2203	4300	6503	SO:0001819	synonymous_variant	1523	0	0					g.chr7:101747666C>T	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	ENST00000292535.7:c.457C>T	chr7.hg19:g.101747666C>T		0					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L	p.L153L	NM_181552.3	NP_853530.2	1	2	3	2.000345	P39880	CUX1_HUMAN		6	495	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	1	1	hg19	c.457C>T	CCDS5721.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	0	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000	NM_001913			112	109		538	531	0		1	1		0	0	142	0		1	1	0	42	0	255	0	112	538
CUX1	1523	broad.mit.edu	37	7	101848408	101848408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101848408A>G	ENST00000292535.7	+	20	3126	c.3088A>G	c.(3088-3090)Aca>Gca	p.T1030A	CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000360264.3_Missense_Mutation_p.T1041A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1030					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)			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						CCACTCCGTGACATCGCTCCA	0.512																																						ENST00000292535.7	1.000000	0.180000	5.200000e-01	2.600000e-01	0.370000	0.416443	0.370000	0.350000																										0				70						c.(3088-3090)Aca>Gca		cut-like homeobox 1							127.0	115.0	119.0					7																	101848408		2203	4300	6503	SO:0001583	missense	1523	0	0					g.chr7:101848408A>G	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	ENST00000292535.7:c.3088A>G	chr7.hg19:g.101848408A>G	ENSP00000292535:p.Thr1030Ala	0					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.T1041A|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A	p.T1030A	NM_181552.3	NP_853530.2	1	2	3	2.000345	P39880	CUX1_HUMAN		20	3126	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	0	1	hg19	c.3088A>G	CCDS5721.1	0	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752581	0.15778	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61158	0.15;0.14;0.15;0.14;0.15;0.13	5.71	0.191	0.15130	5.71	0.191	0.15130	.	0.545468	0.18875	N	0.128726	T	0.33614	0.0869	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.07868	-1.0750	10	0.12103	T	0.63	-1.6649	5.8183	0.18514	0.5672:0.2374:0.1954:0.0	.	1030;1041	P39880;P39880-3	CUX1_HUMAN;.	A	1041;1030;1008;974;928;872	ENSP00000353401:T1041A;ENSP00000292535:T1030A;ENSP00000446630:T1008A;ENSP00000447373:T974A;ENSP00000450125:T928A;ENSP00000451558:T872A	ENSP00000292535:T1030A	T	+	1	0	0	CUX1	101635128	101635128	1.000000	0.71417	0.973000	0.42090	0.051000	0.14879	1.517000	0.35867	-0.187000	0.10516	0.482000	0.46254	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-3.339961	1	0.170000	NM_001913			10	10		324	321	0		1	0		0	0	81	0		9.968516e-01	1.530593e-01	0	0	0	21	0	10	324
CUX1	1523	broad.mit.edu	37	7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000292535.7	+	22	3501	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W	CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1155					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)			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						GACCATCTTAGGGCTCACCCA	0.557																																						ENST00000292535.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				70						c.(3463-3465)Ggg>Tgg		cut-like homeobox 1							109.0	106.0	107.0					7																	101877361		2203	4300	6503	SO:0001583	missense	1523	0	0					g.chr7:101877361G>T	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	ENST00000292535.7:c.3463G>T	chr7.hg19:g.101877361G>T	ENSP00000292535:p.Gly1155Trp	0					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W	p.G1155W	NM_181552.3	NP_853530.2	1	2	3	2.000345	P39880	CUX1_HUMAN		22	3501	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	1	1	hg19	c.3463G>T	CCDS5721.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216979	0.79352	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66099	-0.16;-0.16;-0.18;-0.19;-0.18;-0.18	5.32	4.43	0.53597	5.32	4.43	0.53597	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.84739	0.0750	10	0.87932	D	0	-23.4085	14.2405	0.65954	0.0727:0.0:0.9273:0.0	.	1155;1166	P39880;P39880-3	CUX1_HUMAN;.	W	1166;1155;1133;1099;1053;997	ENSP00000353401:G1166W;ENSP00000292535:G1155W;ENSP00000446630:G1133W;ENSP00000447373:G1099W;ENSP00000450125:G1053W;ENSP00000451558:G997W	ENSP00000292535:G1155W	G	+	1	0	0	CUX1	101664081	101664081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	7.974000	0.88039	1.215000	0.43411	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-2.745332	1	0.170000	NM_001913			58	58		351	346	1		1	1		0	0	77	0		1	8.377757e-01	0	4	0	18	0	58	351
CUX1	1523	broad.mit.edu	37	7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000292535.7	+	22	3573	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1179					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)			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						TCTGAAAGGACGAGAGCCCTT	0.557																																						ENST00000292535.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				70						c.(3535-3537)Cga>Tga		cut-like homeobox 1							96.0	85.0	89.0					7																	101877433		2203	4300	6503	SO:0001587	stop_gained	1523	0	0					g.chr7:101877433C>T	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	ENST00000292535.7:c.3535C>T	chr7.hg19:g.101877433C>T	ENSP00000292535:p.Arg1179*	0					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*	p.R1179*	NM_181552.3	NP_853530.2	1	2	3	2.000345	P39880	CUX1_HUMAN		22	3573	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	0	1	hg19	c.3535C>T	CCDS5721.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.128236	0.98667	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	4.35	0.52113	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7042	15.861	0.79021	0.2249:0.7751:0.0:0.0	.	.	.	.	X	1190;1179;1157;1123;1077;1021	.	ENSP00000292535:R1179X	R	+	1	2	2	CUX1	101664153	101664153	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.359000	0.34113	2.486000	0.83907	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-4.588708	1	0.170000	NM_001913			83	82		272	266	1		1	1		0	0	62	0		1	9.873826e-01	0	7	0	18	0	83	272
CUX1	1523	broad.mit.edu	37	7	101916707	101916707	+	Silent	SNP	C	C	T	rs200271633	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000437600.4	+	15	1672	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000547394.2_Silent_p.I426I	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)			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						GAGAGCTGATCGCCCGCCTGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19500	0.0		0.0	False		,,,				2504	0.0					ENST00000437600.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998464	0.990000	1.000000																										0				70						c.(1318-1320)atC>atT		cut-like homeobox 1							58.0	47.0	51.0					7																	101916707		2203	4300	6503	SO:0001819	synonymous_variant	1523	1	121406	29				g.chr7:101916707C>T	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.1320C>T	chr7.hg19:g.101916707C>T		0					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000393824.3_Silent_p.I403I	p.I440I	NM_181500.2	NP_852477.1	1	2	3	2.000345	P39880	CUX1_HUMAN		15	1672	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	1	1	hg19	c.1320C>T	CCDS47672.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_001913			16	16		92	91	0		1	1		0	0	24	0		9.999533e-01	9.999997e-01	0	39	0	146	0	16	92
CUX1	1523	broad.mit.edu	37	7	101921318	101921318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000437600.4	+	18	2008	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000547394.2_Silent_p.L538L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	361					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)			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						TCAAGTTCCTGCAGAGCTACC	0.652																																						ENST00000437600.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.986865	0.990000	1.000000																										0				70						c.(1654-1656)ctG>ctA		cut-like homeobox 1							40.0	34.0	36.0					7																	101921318		2203	4299	6502	SO:0001819	synonymous_variant	1523	0	0					g.chr7:101921318G>A	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.1656G>A	chr7.hg19:g.101921318G>A		0					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000393824.3_Silent_p.L515L	p.L552L	NM_181500.2	NP_852477.1	1	2	3	2.000345	P39880	CUX1_HUMAN		18	2008	+			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	1	1	hg19	c.1656G>A	CCDS47672.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.999030	1	0.170000	NM_001913			15	15		116	116	1		1	1		0	0	24	0		9.999050e-01	9.999997e-01	0	31	0	220	0	15	116
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	rs564272056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|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)			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692																																						ENST00000292566.3	1.000000	0.700000	1	8.800000e-01	0.990000	0.958497	0.990000	1.000000																										0				8						c.(445-447)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							24.0	25.0	25.0					7																	102098304		2202	4299	6501	SO:0001583	missense	54784	1	121366	28				g.chr7:102098304C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.446G>A	chr7.hg19:g.102098304C>T	ENSP00000292566:p.Arg149Gln	0						p.R149Q	NM_017621.3	NP_060091.1	1	2	3	2.000345	Q9NXW9	ALKB4_HUMAN		3	485	-			Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	1	1	hg19	c.446G>A	CCDS5723.1	1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	0	ALKBH4	101885309	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_017621			20	18		197	192	1		1	1		0	0	32	0		9.999949e-01	9.871711e-01	0	15	0	57	0	20	197
LRWD1	222229	broad.mit.edu	37	7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	86					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627																																						ENST00000292616.5	1.000000	0.750000	1	9.300000e-01	0.990000	0.972988	0.990000	1.000000																										0				20						c.(256-258)gCc>gTc		leucine-rich repeats and WD repeat domain containing 1							49.0	48.0	48.0					7																	102106440		2203	4300	6503	SO:0001583	missense	222229	0	0					g.chr7:102106440C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.257C>T	chr7.hg19:g.102106440C>T	ENSP00000292616:p.Ala86Val	0					ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	p.A86V	NM_152892.1	NP_690852.1	1	2	3	2.000345	Q9UFC0	LRWD1_HUMAN		2	409	+			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	1	1	hg19	c.257C>T	CCDS34715.1	1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090407	0.20471	.	.	ENSG00000161036	ENST00000292616	T	0.60040	0.22	5.19	-0.411	0.12370	5.19	-0.411	0.12370	.	1.003600	0.08021	N	0.991985	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.23302	T	0.38	-21.2124	1.2457	0.01972	0.1397:0.3396:0.2726:0.2481	.	86	Q9UFC0	LRWD1_HUMAN	V	86	ENSP00000292616:A86V	ENSP00000292616:A86V	A	+	2	0	0	LRWD1	101893445	101893445	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	0.133000	0.15912	-0.382000	0.07870	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_152892			22	22		205	198	1		1	1		0	0	50	0		9.999987e-01	9.739680e-01	0	7	0	51	0	22	205
LRWD1	222229	broad.mit.edu	37	7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	186					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292616.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.(556-558)Gag>Aag		leucine-rich repeats and WD repeat domain containing 1							57.0	56.0	57.0					7																	102107909		2203	4300	6503	SO:0001583	missense	222229	1	121404	27				g.chr7:102107909G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.556G>A	chr7.hg19:g.102107909G>A	ENSP00000292616:p.Glu186Lys	0		OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	p.E186K	NM_152892.1	NP_690852.1	1	2	3	2.000345	Q9UFC0	LRWD1_HUMAN		4	708	+			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	1	1	hg19	c.556G>A	CCDS34715.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763152	0.89932	.	.	ENSG00000161036	ENST00000292616	T	0.61980	0.06	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.283914	0.39210	N	0.001421	T	0.49915	0.1585	L	0.50333	1.59	0.58432	D	0.999998	P	0.49358	0.923	B	0.31869	0.137	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.4247	15.3252	0.74154	0.0:0.0:1.0:0.0	.	186	Q9UFC0	LRWD1_HUMAN	K	186	ENSP00000292616:E186K	ENSP00000292616:E186K	E	+	1	0	0	LRWD1	101894914	101894914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.608000	0.82898	2.527000	0.85204	0.462000	0.41574	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	1	0	0		2	2	2	0		0	0	37		37	32	1	2.060000	-3.416505	1	0.170000	NM_152892			37	36		174	159	1		1	1		0	0	37	0		1	9.999291e-01	0	20	0	52	0	37	174
CYP2W1	54905	broad.mit.edu	37	7	1024606	1024606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1024606G>A	ENST00000308919.7	+	3	371	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A64T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	120					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCATCTGGGGCGCGCTGGAG	0.657																																						ENST00000308919.7	1.000000	0.160000	4.800000e-01	2.300000e-01	0.330000	0.382695	0.330000	0.320000																										0				7						c.(358-360)Gcg>Acg		cytochrome P450, family 2, subfamily W, polypeptide 1							34.0	41.0	39.0					7																	1024606		2201	4296	6497	SO:0001583	missense	54905	3	121016	31				g.chr7:1024606G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.358G>A	chr7.hg19:g.1024606G>A	ENSP00000310149:p.Ala120Thr	0					CYP2W1_ENST00000340150.6_Missense_Mutation_p.A64T	p.A120T	NM_017781.2	NP_060251.2	1	2	3	2.000345	Q8TAV3	CP2W1_HUMAN		3	371	+		Ovarian(82;0.0112)		Missense_Mutation	SNP	ENST00000308919.7	0	1	hg19	c.358G>A	CCDS5319.2	0	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823827	0.32237	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.79454	-1.27;-1.27	4.95	-3.52	0.04682	4.95	-3.52	0.04682	.	0.687765	0.14946	N	0.289225	T	0.65048	0.2654	N	0.20530	0.585	0.09310	N	1	B;B	0.33345	0.409;0.409	B;B	0.38755	0.281;0.158	T	0.60151	-0.7319	10	0.48119	T	0.1	.	15.0167	0.71591	0.0767:0.2303:0.693:0.0	.	64;120	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	T	120;64	ENSP00000310149:A120T;ENSP00000344178:A64T	ENSP00000310149:A120T	A	+	1	0	0	CYP2W1	991132	991132	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.068000	0.14531	-0.155000	0.11098	0.491000	0.48974	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-9.567587	1	0.170000	NM_017781			9	9		326	324	0		1			0	0	60	0		9.942225e-01	0	0	0	0	0	0	9	326
LRWD1	222229	broad.mit.edu	37	7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	642					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592																																						ENST00000292616.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1924-1926)Gcc>Acc		leucine-rich repeats and WD repeat domain containing 1							107.0	94.0	98.0					7																	102113476		2203	4300	6503	SO:0001583	missense	222229	0	0					g.chr7:102113476G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1924G>A	chr7.hg19:g.102113476G>A	ENSP00000292616:p.Ala642Thr	0					MIR4467_ENST00000578629.1_RNA	p.A642T	NM_152892.1	NP_690852.1	1	2	3	2.000345	Q9UFC0	LRWD1_HUMAN		15	2076	+			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	1	1	hg19	c.1924G>A	CCDS34715.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819219	0.32145	.	.	ENSG00000161036	ENST00000292616	T	0.61274	0.12	5.94	5.04	0.67666	5.94	5.04	0.67666	.	0.351640	0.33854	N	0.004491	T	0.48370	0.1496	L	0.50333	1.59	0.32081	N	0.593122	B	0.28605	0.217	B	0.24541	0.054	T	0.53486	-0.8432	10	0.13108	T	0.6	-18.8346	13.5495	0.61723	0.0:0.0:0.8392:0.1608	.	642	Q9UFC0	LRWD1_HUMAN	T	642	ENSP00000292616:A642T	ENSP00000292616:A642T	A	+	1	0	0	LRWD1	101900481	101900481	0.999000	0.42202	0.856000	0.33681	0.631000	0.37964	3.150000	0.50662	1.464000	0.47987	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_152892			62	61		312	305	1		1	1		0	0	91	0		1	9.998106e-01	0	20	0	46	0	62	312
FBXL13	222235	broad.mit.edu	37	7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000313221.4	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000393772.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338																																						ENST00000313221.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1174-1176)tGt>tAt		F-box and leucine-rich repeat protein 13							59.0	63.0	62.0					7																	102524065		2203	4300	6503	SO:0001583	missense	222235	0	0					g.chr7:102524065C>T	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.1175G>A	chr7.hg19:g.102524065C>T	ENSP00000321927:p.Cys392Tyr	0					FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron	p.C392Y	NM_145032.3	NP_659469.3	1	2	3	2.000345	Q8NEE6	FXL13_HUMAN		13	1601	-			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	1	1	hg19	c.1175G>A	CCDS5726.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086948	0.00367	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.12	-3.21	0.05140	5.12	-3.21	0.05140	.	2.163390	0.01497	N	0.017337	T	0.02156	0.0067	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.46119	-0.9214	10	0.45353	T	0.12	.	0.4513	0.00501	0.2894:0.1769:0.2975:0.2363	.	392;392;392	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	392	ENSP00000377367:C392Y;ENSP00000368610:C392Y;ENSP00000368607:C392Y;ENSP00000388608:C392Y;ENSP00000321927:C392Y;ENSP00000391550:C392Y	ENSP00000321927:C392Y	C	-	2	0	0	FBXL13	102311301	102311301	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.090000	0.15025	-0.238000	0.09724	0.655000	0.94253	TGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_145032			48	47		235	234	1		1	0		0	0	55	0		1	7.949047e-02	0	0	0	3	0	48	235
NAPEPLD	222236	broad.mit.edu	37	7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					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)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498																																						ENST00000417955.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(433-435)Ctc>Atc		N-acyl phosphatidylethanolamine phospholipase D							160.0	123.0	136.0					7																	102760532		2203	4300	6503	SO:0001583	missense	222236	0	0					g.chr7:102760532G>T	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.433C>A	chr7.hg19:g.102760532G>T	ENSP00000407112:p.Leu145Ile	0					NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I	p.L145I			1	2	3	2.000345	Q6IQ20	NAPEP_HUMAN		3	587	-			Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	1	1	hg19	c.433C>A	CCDS5729.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.313779	0.95655	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.81239	2.535	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.67725	0.953;0.889	D	0.95625	0.8684	10	0.56958	D	0.05	-16.9828	20.3334	0.98727	0.0:0.0:1.0:0.0	.	218;145	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	I	145;145;145;145;218	ENSP00000340093:L145I;ENSP00000407112:L145I;ENSP00000419188:L145I;ENSP00000392775:L145I;ENSP00000414364:L218I	ENSP00000340093:L145I	L	-	1	0	0	NAPEPLD	102547768	102547768	1.000000	0.71417	0.868000	0.34077	0.980000	0.70556	8.004000	0.88535	2.818000	0.97014	0.591000	0.81541	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	NM_198990			105	102		351	349	1		1	1		0	0	99	0		1	9.832777e-01	0	7	0	17	0	105	351
DNAJC2	27000	broad.mit.edu	37	7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	162	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343																																						ENST00000379263.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				21						c.(484-486)cCt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 2							92.0	85.0	88.0					7																	102967077		1849	4089	5938	SO:0001583	missense	27000	0	0					g.chr7:102967077G>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.485C>A	chr7.hg19:g.102967077G>T	ENSP00000368565:p.Pro162His	0					DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H|PMPCB_ENST00000420236.2_Intron	p.P162H	NM_014377.1	NP_055192.1	1	2	3	2.000345	Q99543	DNJC2_HUMAN		5	735	-			A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	1	1	hg19	c.485C>A	CCDS43628.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257838|4.257838	0.80246|0.80246	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	D|D	0.83631|0.83631	0.5296|0.5296	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.684;1.0	.|P;D	.|0.87578	.|0.511;0.998	D|D	0.84601|0.84601	0.0672|0.0672	5|9	.|0.72032	.|D	.|0.01	-18.9832|-18.9832	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162;162	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	I|H	151|162;162;162;88	.|.	.|ENSP00000249270:P162H	L|P	-|-	1|2	2|0	2|0	DNAJC2|DNAJC2	102754313|102754313	102754313|102754313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.955000|8.955000	0.93058|0.93058	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.180091	1	0.170000				35	34		182	176	1		1	1		0	0	41	0		1	9.995264e-01	0	15	0	49	0	35	182
PSMC2	5701	broad.mit.edu	37	7	103008360	103008360	+	Silent	SNP	C	C	T	rs183253099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S387S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0					ENST00000435765.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S387S(1)	cervix(1)	21						c.(1159-1161)agC>agT		proteasome (prosome, macropain) 26S subunit, ATPase, 2							98.0	95.0	96.0					7																	103008360		2203	4300	6503	SO:0001819	synonymous_variant	5701	1	121412	25				g.chr7:103008360C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1161C>T	chr7.hg19:g.103008360C>T		0					PSMC2_ENST00000544811.1_Silent_p.S250S|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	p.S387S	NM_002803.3	NP_002794.1	1	2	3	2.000345	P35998	PRS7_HUMAN		13	1572	+			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	1	1	hg19	c.1161C>T	CCDS5731.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	1	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-20.000000	1	0.170000	NM_002803			80	80		433	424	0		1	1		0	0	91	0		1	1	0	192	0	495	0	80	433
SLC26A5	375611	broad.mit.edu	37	7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	738					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)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498																																						ENST00000306312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2212-2214)aCt>aTt		solute carrier family 26 (anion exchanger), member 5							49.0	43.0	45.0					7																	103014868		2203	4300	6503	SO:0001583	missense	375611	0	0					g.chr7:103014868G>A	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.2213C>T	chr7.hg19:g.103014868G>A	ENSP00000304783:p.Thr738Ile	0					SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000356767.4_Intron	p.T738I	NM_198999.2	NP_945350.1	1	2	3	2.000345	P58743	S26A5_HUMAN		20	2474	-			Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	1	1	hg19	c.2213C>T	CCDS5733.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509203	0.64522	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95918	-3.19;-3.19;-3.19;-3.85;-3.12;-3.19;-3.19	5.69	2.68	0.31781	5.69	2.68	0.31781	.	0.497940	0.20465	N	0.091816	D	0.87573	0.6211	N	0.08118	0	0.09310	N	1	B;P	0.45348	0.085;0.856	B;B	0.41299	0.039;0.353	T	0.82236	-0.0557	10	0.72032	D	0.01	.	7.3653	0.26770	0.0:0.2418:0.4582:0.3	.	738;706	P58743;Q496J2	S26A5_HUMAN;.	I	738;706;706;171;701;740;708	ENSP00000304783:T738I;ENSP00000377331:T706I;ENSP00000389733:T706I;ENSP00000346325:T171I;ENSP00000377330:T701I;ENSP00000377328:T740I;ENSP00000377324:T708I	ENSP00000304783:T738I	T	-	2	0	0	SLC26A5	102802104	102802104	0.061000	0.20836	0.875000	0.34327	0.735000	0.41995	1.295000	0.33377	1.402000	0.46780	0.454000	0.30748	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	1	0	1		2	2	2	0		0	0	48		48	44	1	2.060000	-20.000000	1	0.170000	NM_198999			40	36		144	135	1		1		0	0	0	48	0		1	0	0	0	1	0	0	40	144
SLC26A5	375611	broad.mit.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					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.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478																																						ENST00000306312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A345V(1)	large_intestine(1)	43						c.(1033-1035)gCc>gAc		solute carrier family 26 (anion exchanger), member 5							223.0	174.0	191.0					7																	103033451		2203	4300	6503	SO:0001583	missense	375611	0	0					g.chr7:103033451G>T	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.1034C>A	chr7.hg19:g.103033451G>T	ENSP00000304783:p.Ala345Asp	0					SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron	p.A345D	NM_198999.2	NP_945350.1	1	2	3	2.000345	P58743	S26A5_HUMAN		10	1295	-			Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	1	1	hg19	c.1034C>A	CCDS5733.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.230698	0.95207	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.74	5.74	0.90152	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.97473	0.9173	M	0.89840	3.065	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;0.995;0.979;0.992	D	0.97869	1.0285	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	D	345;345;345;345;345;308;345;345	ENSP00000342396:A345D;ENSP00000377336:A345D;ENSP00000304783:A345D;ENSP00000377331:A345D;ENSP00000389733:A345D;ENSP00000377330:A308D;ENSP00000377328:A345D;ENSP00000377324:A345D	ENSP00000304783:A345D	A	-	2	0	0	SLC26A5	102820687	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_198999			72	72		296	287	1		1	0		0	0	78	0		1	0	0	0	0	1	0	72	296
RELN	5649	broad.mit.edu	37	7	103138291	103138291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	RELN_ENST00000424685.2_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2976					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)			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)		TAGTCCAACAGCACGCCTTCC	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999645	0.990000	1.000000																										0				227						c.(8926-8928)Ctg>Ttg		reelin							114.0	89.0	97.0					7																	103138291		2203	4300	6503	SO:0001819	synonymous_variant	5649	0	0					g.chr7:103138291G>A		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.8926C>T	chr7.hg19:g.103138291G>A		0					RELN_ENST00000424685.2_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L	p.L2976L	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		55	9085	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	1	1	hg19	c.8926C>T	CCDS47680.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_005045			31	31		201	200	1		1	0		0	0	44	0		1	1.425842e-01	0	0	0	5	0	31	201
RELN	5649	broad.mit.edu	37	7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2928					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)			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)		TCCCCCAAAATAGAGTGCAGT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				227						c.(8782-8784)tAt>tGt		reelin							125.0	117.0	120.0					7																	103138584		2203	4300	6503	SO:0001583	missense	5649	0	0					g.chr7:103138584T>C		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.8783A>G	chr7.hg19:g.103138584T>C	ENSP00000392423:p.Tyr2928Cys	0					RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C	p.Y2928C	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		54	8942	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	1	1	hg19	c.8783A>G	CCDS47680.1	1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475388	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.89	5.89	0.94794	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.50389	-0.8834	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2928;2928	P78509-2;P78509	.;RELN_HUMAN	C	2928;2928;2928;445;2928	ENSP00000392423:Y2928C;ENSP00000345694:Y2928C;ENSP00000388446:Y2928C	ENSP00000345694:Y2928C	Y	-	2	0	0	RELN	102925820	102925820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	0		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_005045			90	87		388	381	1		1	0		0	0	112	0		1	1.656807e-01	0	0	0	4	0	90	388
RELN	5649	broad.mit.edu	37	7	103138682	103138682	+	Silent	SNP	G	G	A	rs201097384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	RELN_ENST00000424685.2_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					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)			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)		CACTGTCAAAGCGTTCCTTCA	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16702	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				227						c.(8683-8685)cgC>cgT		reelin							99.0	87.0	91.0					7																	103138682		2203	4300	6503	SO:0001819	synonymous_variant	5649	2	121412	31				g.chr7:103138682G>A		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.8685C>T	chr7.hg19:g.103138682G>A		0					RELN_ENST00000424685.2_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R	p.R2895R	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		54	8844	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	1	1	hg19	c.8685C>T	CCDS47680.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	0		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_005045			58	57		314	305	1		1	0		0	0	80	0		1	0	0	0	0	1	0	58	314
RELN	5649	broad.mit.edu	37	7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2877	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			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)		TTGGCCCTGAGTATCCCGGAT	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.250000	5.300000e-01	3.200000e-01	0.410000	0.453660	0.410000	0.410000																										0				227						c.(8629-8631)taC>taA		reelin							232.0	180.0	197.0					7																	103141228		2203	4300	6503	SO:0001587	stop_gained	5649	0	0					g.chr7:103141228G>T		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.8631C>A	chr7.hg19:g.103141228G>T	ENSP00000392423:p.Tyr2877*	0					RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*	p.Y2877*	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		53	8790	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	0	1	hg19	c.8631C>A	CCDS47680.1	0	.	.	.	.	.	.	.	.	.	.	G	50	17.167829	0.99880	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.36	4.47	0.54385	5.36	4.47	0.54385	.	0.187164	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7502	0.46205	0.1447:0.0:0.8553:0.0	.	.	.	.	X	2877;2877;2877;394;2877	.	ENSP00000345694:Y2877X	Y	-	3	2	2	RELN	102928464	102928464	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.209000	0.51122	2.489000	0.83994	0.655000	0.94253	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-3.958565	1	0.170000	NM_005045			20	20		563	547	0		1	0		0	0	108	0		9.999938e-01	2.482378e-02	0	0	0	7	0	20	563
RELN	5649	broad.mit.edu	37	7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2444					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)			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)		GGAGGGAGAGGCAGAGTGATT	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				227						c.(7330-7332)Cct>Tct		reelin							159.0	121.0	134.0					7																	103175782		2203	4300	6503	SO:0001583	missense	5649	0	0					g.chr7:103175782G>A		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.7330C>T	chr7.hg19:g.103175782G>A	ENSP00000392423:p.Pro2444Ser	0					RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	p.P2444S	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		46	7489	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	1	1	hg19	c.7330C>T	CCDS47680.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843027	0.91197	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	5.57	5.57	0.84162	Neuraminidase (1);	0.105231	0.64402	D	0.000002	T	0.72875	0.3515	M	0.73962	2.25	0.80722	D	1	D;P	0.67145	0.996;0.519	D;B	0.64410	0.925;0.09	T	0.74788	-0.3546	10	0.72032	D	0.01	.	19.9029	0.96995	0.0:0.0:1.0:0.0	.	2444;2444	P78509-2;P78509	.;RELN_HUMAN	S	2444	ENSP00000392423:P2444S;ENSP00000345694:P2444S;ENSP00000388446:P2444S	ENSP00000345694:P2444S	P	-	1	0	0	RELN	102963018	102963018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.780000	0.95670	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-16.796490	1	0.170000	NM_005045			30	30		160	157	1		1	0		0	0	54	0		1	0	0	0	0	1	0	30	160
RELN	5649	broad.mit.edu	37	7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T	rs368566543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2067					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)			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)		GGAGCATAAAGAGCTGACGTG	0.597																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.990778	0.990000	1.000000																										0				227						c.(6199-6201)tCt>tAt		reelin							78.0	57.0	64.0					7																	103191616		2203	4300	6503	SO:0001583	missense	5649	0	0					g.chr7:103191616G>T		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.6200C>A	chr7.hg19:g.103191616G>T	ENSP00000392423:p.Ser2067Tyr	0					RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	p.S2067Y	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		41	6359	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	1	1	hg19	c.6200C>A	CCDS47680.1	1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807492	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.7	5.7	0.88788	5.7	5.7	0.88788	Neuraminidase (1);	0.114362	0.64402	D	0.000008	T	0.41190	0.1148	L	0.40543	1.245	0.58432	D	0.999993	D;D	0.76494	0.995;0.999	P;D	0.76071	0.823;0.987	T	0.12243	-1.0555	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2067;2067	P78509-2;P78509	.;RELN_HUMAN	Y	2067	ENSP00000392423:S2067Y;ENSP00000345694:S2067Y;ENSP00000388446:S2067Y	ENSP00000345694:S2067Y	S	-	2	0	0	RELN	102978852	102978852	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_005045			25	25		207	199	1		1			0	0	47	0		9.999998e-01	0	0	0	0	0	0	25	207
RELN	5649	broad.mit.edu	37	7	103197551	103197551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1890					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)			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)		GGTGCCAAGTGATTCCTCCAC	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				227						c.(5668-5670)atC>atT		reelin							134.0	125.0	128.0					7																	103197551		2203	4300	6503	SO:0001819	synonymous_variant	5649	0	0					g.chr7:103197551G>A		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.5670C>T	chr7.hg19:g.103197551G>A		0					RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	p.I1890I	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		38	5829	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	1	1	hg19	c.5670C>T	CCDS47680.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_005045			64	63		305	301	1		1	0		0	0	103	0		1	3.091758e-02	0	0	0	2	0	64	305
RELN	5649	broad.mit.edu	37	7	103215993	103215993	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						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)			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)		ATTTAGCCTTACCAGTATATC	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				227						c.e29+1		reelin							111.0	99.0	103.0					7																	103215993		2203	4300	6503	SO:0001630	splice_region_variant	5649	0	0					g.chr7:103215993A>G		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.4303+1T>C	chr7.hg19:g.103215993A>G		0					RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		29	4463	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	1	1	hg19		CCDS47680.1	1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797698	0.50208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9441	0.79779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RELN	103003229	103003229	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.910000	0.92685	2.225000	0.72522	0.460000	0.39030	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_005045	Intron		45	45		267	265	1		1			0	0	50	0		1	0	0	0	0	0	0	45	267
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					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)			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)		AGCTGACGCCGCCCATCTTTG	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				227						c.(2260-2262)Cgg>Tgg		reelin							74.0	65.0	68.0					7																	103276725		2203	4300	6503	SO:0001583	missense	5649	2	121396	30				g.chr7:103276725G>A		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.2260C>T	chr7.hg19:g.103276725G>A	ENSP00000392423:p.Arg754Trp	0					RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	p.R754W	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		18	2419	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	1	1	hg19	c.2260C>T	CCDS47680.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	2	RELN	103063961	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.640033	1	0.170000	NM_005045			36	35		138	137	1		1	0		0	0	32	0		1	0	0	0	0	1	0	36	138
RELN	5649	broad.mit.edu	37	7	103290811	103290811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000428762.1	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	638					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)			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)		TTAGGAAGGGGAATTGTTATT	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.190000	5.500000e-01	2.800000e-01	0.390000	0.431889	0.390000	0.370000																										0				227						c.(1912-1914)Ccc>Tcc		reelin							208.0	179.0	189.0					7																	103290811		2203	4300	6503	SO:0001583	missense	5649	0	0					g.chr7:103290811G>A		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.1912C>T	chr7.hg19:g.103290811G>A	ENSP00000392423:p.Pro638Ser	0					RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	p.P638S	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		16	2071	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	0	1	hg19	c.1912C>T	CCDS47680.1	0	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816746	0.90790	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	2.04;1.96;2.05	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	T	0.17410	-1.0370	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	638;638	P78509-2;P78509	.;RELN_HUMAN	S	638	ENSP00000392423:P638S;ENSP00000345694:P638S;ENSP00000388446:P638S	ENSP00000345694:P638S	P	-	1	0	0	RELN	103078047	103078047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.894000	0.99253	0.591000	0.81541	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.245064	1	0.170000	NM_005045			10	10		310	308	0		1	0		0	0	53	0		9.969028e-01	3.705627e-03	0	0	0	3	0	10	310
RELN	5649	broad.mit.edu	37	7	103292173	103292173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	609					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)			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)		AGATCTCAGGTAAGCATTCAG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998756	0.990000	1.000000																										0				227						c.(1825-1827)ttA>ttG		reelin							81.0	66.0	71.0					7																	103292173		2203	4300	6503	SO:0001819	synonymous_variant	5649	0	0					g.chr7:103292173T>C		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.1827A>G	chr7.hg19:g.103292173T>C		0					RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	p.L609L	NM_005045.3	NP_005036.2	1	2	3	2.000345	P78509	RELN_HUMAN		15	1986	-			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	1	1	hg19	c.1827A>G	CCDS47680.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_005045			28	27		195	185	1		1			0	0	49	0		1	0	0	0	0	0	0	28	195
LHFPL3	375612	broad.mit.edu	37	7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000401970.2	+	2	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3_ENST00000543266.1_Intron|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000535008.1_Intron|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000424859.1_Missense_Mutation_p.A136T			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	150						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398																																						ENST00000401970.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.992388	0.990000	1.000000																										0				9						c.(406-408)Gcc>Acc		lipoma HMGIC fusion partner-like 3							45.0	42.0	43.0					7																	104377124		1882	4117	5999	SO:0001583	missense	375612	0	0					g.chr7:104377124G>A	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.406G>A	chr7.hg19:g.104377124G>A	ENSP00000385374:p.Ala136Thr	0					LHFPL3_ENST00000535008.1_Intron|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000424859.1_Missense_Mutation_p.A136T	p.A136T			1	2	3	2.000345	Q86UP9	LHPL3_HUMAN		2	528	+			A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	1	1	hg19	c.406G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840857	0.32513	.	.	ENSG00000187416	ENST00000424859;ENST00000401970	T;T	0.71461	-0.57;-0.57	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.163431	0.53938	D	0.000045	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18263	0.021;0.021	T	0.44345	-0.9334	10	0.25751	T	0.34	-15.1213	19.3361	0.94319	0.0:0.0:1.0:0.0	.	150;150	A1L384;A4D0Q5	.;.	T	136	ENSP00000393128:A136T;ENSP00000385374:A136T	ENSP00000385374:A136T	A	+	1	0	0	LHFPL3	104164360	104164360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.485000	0.66850	2.878000	0.98634	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-19.073140	1	0.170000	NM_199000			11	11		69	69	1		1			0	0	24	0		9.987348e-01	0	0	0	0	0	0	11	69
RINT1	60561	broad.mit.edu	37	7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	48					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338																																						ENST00000257700.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(142-144)Gat>Tat		RAD50 interactor 1							192.0	194.0	193.0					7																	105177065		2203	4300	6503	SO:0001583	missense	60561	0	0					g.chr7:105177065G>T	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.142G>T	chr7.hg19:g.105177065G>T	ENSP00000257700:p.Asp48Tyr	0						p.D48Y	NM_021930.4	NP_068749.3	1	2	3	2.000345	Q6NUQ1	RINT1_HUMAN		3	373	+			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	1	1	hg19	c.142G>T	CCDS34726.1	1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079517	0.55753	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.2	3.35	0.38373	5.2	3.35	0.38373	.	0.216469	0.45867	D	0.000324	T	0.25457	0.0619	L	0.39898	1.24	0.23266	N	0.998011	D	0.53885	0.963	P	0.45946	0.498	T	0.06356	-1.0831	10	0.59425	D	0.04	-8.8286	11.9528	0.52964	0.1471:0.0:0.8529:0.0	.	48	Q6NUQ1	RINT1_HUMAN	Y	48	ENSP00000257700:D48Y	ENSP00000257700:D48Y	D	+	1	0	0	RINT1	104964301	104964301	1.000000	0.71417	0.024000	0.17045	0.989000	0.77384	4.669000	0.61575	0.545000	0.28902	0.491000	0.48974	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	0	0	0		22	2	2	1		1	1	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_021930			109	108		500	492	1		1	1		1	0	90	0		1	7.436919e-01	0	8	0	6	0	109	500
RINT1	60561	broad.mit.edu	37	7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	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)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423																																						ENST00000257700.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(874-876)Gaa>Taa		RAD50 interactor 1							191.0	165.0	173.0					7																	105189035		2203	4300	6503	SO:0001587	stop_gained	60561	0	0					g.chr7:105189035G>T	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.874G>T	chr7.hg19:g.105189035G>T	ENSP00000257700:p.Glu292*	0						p.E292*	NM_021930.4	NP_068749.3	1	2	3	2.000345	Q6NUQ1	RINT1_HUMAN		7	1105	+			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	0	1	hg19	c.874G>T	CCDS34726.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.171327	0.98688	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.401672	0.28252	N	0.016022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.3046	20.0098	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000257700:E292X	E	+	1	0	0	RINT1	104976271	104976271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.235000	0.78143	2.719000	0.93026	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000	NM_021930			112	110		546	532	1		1	1		0	0	131	0		1	9.994253e-01	0	5	0	50	0	112	546
RINT1	60561	broad.mit.edu	37	7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	353	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)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378																																						ENST00000257700.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1057-1059)gAg>gCg		RAD50 interactor 1							122.0	123.0	123.0					7																	105190563		2203	4300	6503	SO:0001583	missense	60561	0	0					g.chr7:105190563A>C	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.1058A>C	chr7.hg19:g.105190563A>C	ENSP00000257700:p.Glu353Ala	0						p.E353A	NM_021930.4	NP_068749.3	1	2	3	2.000345	Q6NUQ1	RINT1_HUMAN		8	1289	+			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	1	1	hg19	c.1058A>C	CCDS34726.1	1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402508	0.62288	.	.	ENSG00000135249	ENST00000257700	T	0.33865	1.39	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.046124	0.85682	D	0.000000	T	0.28797	0.0714	L	0.44542	1.39	0.80722	D	1	P	0.39576	0.679	B	0.34452	0.183	T	0.06588	-1.0818	10	0.13108	T	0.6	-20.0302	15.8976	0.79346	1.0:0.0:0.0:0.0	.	353	Q6NUQ1	RINT1_HUMAN	A	353	ENSP00000257700:E353A	ENSP00000257700:E353A	E	+	2	0	0	RINT1	104977799	104977799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.706000	0.91362	2.212000	0.71576	0.528000	0.53228	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_021930			55	54		286	283	1		1	1		0	0	57	0		1	9.945594e-01	0	17	0	27	0	55	286
RINT1	60561	broad.mit.edu	37	7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	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)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383																																						ENST00000257700.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999399	0.990000	1.000000																										0				22						c.(1825-1827)Cgt>Tgt		RAD50 interactor 1							103.0	92.0	96.0					7																	105204333		2203	4300	6503	SO:0001583	missense	60561	1	121412	23				g.chr7:105204333C>T	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.1825C>T	chr7.hg19:g.105204333C>T	ENSP00000257700:p.Arg609Cys	0						p.R609C	NM_021930.4	NP_068749.3	1	2	3	2.000345	Q6NUQ1	RINT1_HUMAN		12	2056	+			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	1	1	hg19	c.1825C>T	CCDS34726.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352824	0.82132	.	.	ENSG00000135249	ENST00000257700	T	0.31510	1.49	6.17	5.28	0.74379	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.4485	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	609	Q6NUQ1	RINT1_HUMAN	C	609	ENSP00000257700:R609C	ENSP00000257700:R609C	R	+	1	0	0	RINT1	104991569	104991569	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.233000	0.51311	1.596000	0.50062	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-2.364807	0	0.170000	NM_021930			35	35		245	233	1		1	1		0	0	79	0		1	9.847551e-01	0	2	0	47	0	35	245
CDHR3	222256	broad.mit.edu	37	7	105660870	105660870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	ENST00000317716.9	+	13	1785	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.N569D|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	569	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)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGTACTCCAAACTCTTATTT	0.408																																						ENST00000317716.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				23						c.(1705-1707)Aac>Gac		cadherin-related family member 3							85.0	76.0	79.0					7																	105660870		1856	4106	5962	SO:0001583	missense	222256	0	0					g.chr7:105660870A>G	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.1705A>G	chr7.hg19:g.105660870A>G	ENSP00000325954:p.Asn569Asp	0					CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.N569D	p.N569D	NM_152750.4	NP_689963.2	1	2	3	2.000345	Q6ZTQ4	CDHR3_HUMAN		13	1785	+			Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	0	1	hg19	c.1705A>G	CCDS47684.1	1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859843	0.32884	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58652	0.32;0.32;1.2	5.55	0.184	0.15086	5.55	0.184	0.15086	Cadherin (2);Cadherin-like (1);	0.653907	0.15506	N	0.258791	T	0.40570	0.1122	L	0.42245	1.32	0.80722	D	1	B;B	0.15141	0.006;0.012	B;B	0.11329	0.003;0.006	T	0.14980	-1.0453	10	0.10111	T	0.7	-11.2539	6.4987	0.22155	0.573:0.2928:0.1342:0.0	.	556;569	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	D	569;569;481	ENSP00000439766:N569D;ENSP00000325954:N569D;ENSP00000417771:N481D	ENSP00000325954:N569D	N	+	1	0	0	CDHR3	105448106	105448106	0.035000	0.19736	0.416000	0.26546	0.757000	0.42996	1.294000	0.33365	-0.213000	0.10094	-0.316000	0.08728	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_152750			33	32		157	154	0		1	0		0	0	38	0		1	0	0	0	0	1	0	33	157
SYPL1	6856	broad.mit.edu	37	7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000011473.2	-	3	272	c.226G>T	c.(226-228)Gct>Tct	p.A76S	SYPL1_ENST00000455385.2_Missense_Mutation_p.A58S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CCAAAAGTAGCTGTAACAGTT	0.348																																						ENST00000011473.2	1.000000	0.170000	4.300000e-01	2.300000e-01	0.320000	0.363860	0.320000	0.300000																										0				7						c.(226-228)Gct>Tct		synaptophysin-like 1							100.0	103.0	102.0					7																	105739626		2203	4300	6503	SO:0001583	missense	6856	0	0					g.chr7:105739626C>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.226G>T	chr7.hg19:g.105739626C>A	ENSP00000011473:p.Ala76Ser	0					SYPL1_ENST00000455385.2_Missense_Mutation_p.A58S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	p.A76S	NM_006754.3	NP_006745.1	1	2	3	2.000345	Q16563	SYPL1_HUMAN		3	272	-			A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	1	1	hg19	c.226G>T	CCDS5736.1	0	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196287	0.78902	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.33438	1.43;1.41;1.45	5.08	5.08	0.68730	5.08	5.08	0.68730	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.84326	2.69	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.64550	-0.6381	10	0.72032	D	0.01	-1.3006	17.6082	0.88045	0.0:1.0:0.0:0.0	.	76	Q16563	SYPL1_HUMAN	S	58;76;58	ENSP00000388336:A58S;ENSP00000011473:A76S;ENSP00000419070:A58S	ENSP00000011473:A76S	A	-	1	0	0	SYPL1	105526862	105526862	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.100000	0.57762	2.525000	0.85131	0.557000	0.71058	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1	0	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-3.110971	1	0.170000				13	13		488	478	0		1	1		0	0	141	0		9.994784e-01	9.993085e-01	0	22	0	448	0	13	488
PIK3CG	5294	broad.mit.edu	37	7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	314					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)			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						TCCAGACCCGGCCCTAGACGA	0.592																																						ENST00000359195.3	1.000000	0.420000	8.700000e-01	5.400000e-01	0.680000	0.704504	0.680000	0.660000																										0				132						c.(940-942)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							58.0	54.0	55.0					7																	106508946		2203	4300	6503	SO:0001583	missense	5294	0	0					g.chr7:106508946G>A		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.940G>A	chr7.hg19:g.106508946G>A	ENSP00000352121:p.Ala314Thr	0					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T	p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	1	2	3	2.000345	P48736	PK3CG_HUMAN		2	1250	+			A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	1	1	hg19	c.940G>A	CCDS5739.1	0	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749916	0.03041	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.461354	0.26328	N	0.025014	T	0.46249	0.1383	N	0.24115	0.695	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.23297	-1.0192	10	0.14656	T	0.56	-25.7248	6.0442	0.19750	0.1118:0.0:0.7036:0.1846	.	314	P48736	PK3CG_HUMAN	T	314	ENSP00000392258:A314T;ENSP00000419260:A314T;ENSP00000352121:A314T	ENSP00000352121:A314T	A	+	1	0	0	PIK3CG	106296182	106296182	0.972000	0.33761	0.932000	0.37286	0.058000	0.15608	5.320000	0.65841	2.714000	0.92807	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	1		17	2	2	0		0	1	77		77	72	1	2.060000	-19.995680	1	0.170000				20	19		334	328	0		1	0		0	0	77	0		7.268323e-01	4.530036e-01	0	0	0	26	0	20	334
PIK3CG	5294	broad.mit.edu	37	7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A	rs187473519		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	678	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)			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						TAGCGCCCTTGCCAGATTTCT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21792	0.0		0.0	False		,,,				2504	0.0					ENST00000359195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(2032-2034)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							198.0	189.0	192.0					7																	106513018		2203	4300	6503	SO:0001583	missense	5294	1	121412	36				g.chr7:106513018G>A		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.2032G>A	chr7.hg19:g.106513018G>A	ENSP00000352121:p.Ala678Thr	0					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T	p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	1	2	3	2.000345	P48736	PK3CG_HUMAN		3	2342	+			A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	1	1	hg19	c.2032G>A	CCDS5739.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.301109	0.95601	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	5.62	0.85841	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.260360	0.44097	D	0.000491	T	0.67325	0.2881	L	0.55834	1.745	0.53005	D	0.999962	P	0.40875	0.731	P	0.50570	0.644	T	0.61103	-0.7130	10	0.25106	T	0.35	-13.3468	14.8206	0.70070	0.0:0.0:0.856:0.144	.	678	P48736	PK3CG_HUMAN	T	678	ENSP00000392258:A678T;ENSP00000419260:A678T;ENSP00000352121:A678T	ENSP00000352121:A678T	A	+	1	0	0	PIK3CG	106300254	106300254	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.420000	0.80191	2.809000	0.96659	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	0	0	0		2	2	2	0		0	0	146		146	145	1	2.060000	-20.000000	1	0.170000				123	124		518	505	1		1	1		0	0	146	0		1	9.992776e-01	0	2	0	45	0	123	518
PIK3CG	5294	broad.mit.edu	37	7	106513208	106513208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000440650.2_Silent_p.A704A|PIK3CG_ENST00000496166.1_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	704	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)			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						GTGAGATAGCCCAGTCCAGAC	0.448																																						ENST00000359195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				132						c.(2110-2112)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							109.0	109.0	109.0					7																	106513208		2203	4300	6503	SO:0001819	synonymous_variant	5294	0	0					g.chr7:106513208C>T		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.2112C>T	chr7.hg19:g.106513208C>T		0					PIK3CG_ENST00000496166.1_Silent_p.A704A|PIK3CG_ENST00000440650.2_Silent_p.A704A	p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	1	2	3	2.000345	P48736	PK3CG_HUMAN		4	2422	+			A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	1	1	hg19	c.2112C>T	CCDS5739.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.158706	1	0.170000				67	67		341	335	1		1	0		0	0	87	0		1	9.542640e-01	0	0	0	28	0	67	341
PRKAR2B	5577	broad.mit.edu	37	7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	117	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299																																						ENST00000265717.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				14						c.(349-351)gCa>gTa		protein kinase, cAMP-dependent, regulatory, type II, beta							120.0	120.0	120.0					7																	106762403		2203	4299	6502	SO:0001583	missense	5577	0	0					g.chr7:106762403C>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.350C>T	chr7.hg19:g.106762403C>T	ENSP00000265717:p.Ala117Val	0					CTA-360L10.1_ENST00000494849.1_RNA|PRKAR2B_ENST00000393613.2_3'UTR	p.A117V	NM_002736.2	NP_002727.2	1	2	3	2.000345	P31323	KAP3_HUMAN		3	609	+			A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	1	1	hg19	c.350C>T	CCDS5740.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507675	0.85282	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.84442	-1.85	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.050938	0.85682	D	0.000000	D	0.90913	0.7144	M	0.77616	2.38	0.49130	D	0.999756	D	0.76494	0.999	P	0.59115	0.852	D	0.91996	0.5607	10	0.87932	D	0	-21.0737	16.1148	0.81301	0.0:1.0:0.0:0.0	.	117	P31323	KAP3_HUMAN	V	117;117;104	ENSP00000265717:A117V	ENSP00000265717:A117V	A	+	2	0	0	PRKAR2B	106549639	106549639	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.620000	0.67736	2.608000	0.88229	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				34	33		177	175	1		1	1		0	0	40	0		1	9.917663e-01	0	4	0	38	0	34	177
HBP1	26959	broad.mit.edu	37	7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	10					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)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413																																						ENST00000222574.4	1.000000	0.620000	1	7.300000e-01	0.850000	0.858408	0.850000	1.000000																										0				10						c.(28-30)atG>atA		HMG-box transcription factor 1							158.0	151.0	154.0					7																	106820368		2203	4300	6503	SO:0001583	missense	26959	1	121412	32				g.chr7:106820368G>A	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.30G>A	chr7.hg19:g.106820368G>A	ENSP00000222574:p.Met10Ile	0					HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	p.M10I	NM_012257.3	NP_036389.2	1	2	3	2.000345	O60381	HBP1_HUMAN		2	216	+			B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	1	1	hg19	c.30G>A	CCDS5741.1	1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222338	0.39300	.	.	ENSG00000105856	ENST00000468410;ENST00000478930;ENST00000464009;ENST00000222574;ENST00000468401;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99051	-5.37;-5.37;-5.37	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.152031	0.64402	D	0.000014	D	0.97188	0.9081	N	0.24115	0.695	0.48185	D	0.9996	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.19666	0.026;0.005;0.026	D	0.93205	0.6595	10	0.72032	D	0.01	-5.92	20.3214	0.98679	0.0:0.0:1.0:0.0	.	20;10;10	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	10;10;10;10;10;10;10;10;2	ENSP00000420500:M10I;ENSP00000222574:M10I;ENSP00000418738:M10I	ENSP00000222574:M10I	M	+	3	0	0	HBP1	106607604	106607604	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.194000	0.65125	2.804000	0.96469	0.655000	0.94253	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-9.481105	1	0.170000	NM_012257			40	40		517	510	0		1	1		0	0	100	0		1	9.967909e-01	0	11	0	102	0	40	517
DUS4L	11062	broad.mit.edu	37	7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	99							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378																																						ENST00000265720.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(295-297)gCt>gTt		dihydrouridine synthase 4-like (S. cerevisiae)							269.0	246.0	253.0					7																	107214206		2203	4300	6503	SO:0001583	missense	11062	0	0					g.chr7:107214206C>T	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.296C>T	chr7.hg19:g.107214206C>T	ENSP00000265720:p.Ala99Val	0					DUS4L_ENST00000402620.1_Intron	p.A99V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	1	2	3	2.000345	O95620	DUS4L_HUMAN		5	658	+			B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	1	1	hg19	c.296C>T	CCDS5745.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.142670	0.94560	.	.	ENSG00000105865	ENST00000265720	T	0.38722	1.12	5.98	5.08	0.68730	5.98	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.71560	-0.4556	10	0.49607	T	0.09	.	16.3562	0.83236	0.133:0.867:0.0:0.0	.	99	O95620	DUS4L_HUMAN	V	99	ENSP00000265720:A99V	ENSP00000265720:A99V	A	+	2	0	0	DUS4L	107001442	107001442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	1.473000	0.48159	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	1	0	1		2	2	2	0		0	0	197		197	196	1	2.060000	-20.000000	1	0.170000	NM_181581			182	177		849	828	1		1	1		0	0	197	0		1	8.902723e-01	0	2	0	18	0	182	849
SLC26A4	5172	broad.mit.edu	37	7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	247					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)			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						AACCAAAAACTACAATGGAGT	0.433									Pendred syndrome																													ENST00000265715.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(739-741)Tac>Cac		solute carrier family 26 (anion exchanger), member 4							181.0	177.0	178.0					7																	107315528		2203	4300	6503	SO:0001583	missense	5172	0	0		Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	g.chr7:107315528T>C	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.739T>C	chr7.hg19:g.107315528T>C	ENSP00000265715:p.Tyr247His	0						p.Y247H	NM_000441.1	NP_000432.1	1	2	3	2.000345	O43511	S26A4_HUMAN		6	963	+			B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	1	1	hg19	c.739T>C	CCDS5746.1	1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106534	0.20632	.	.	ENSG00000091137	ENST00000265715	D	0.92348	-3.02	5.59	4.45	0.53987	5.59	4.45	0.53987	Sulphate transporter (1);	0.148487	0.46442	N	0.000296	T	0.78413	0.4279	N	0.03304	-0.355	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.70450	-0.4868	10	0.05721	T	0.95	.	11.2381	0.48953	0.0:0.0715:0.0:0.9284	.	247	O43511	S26A4_HUMAN	H	247	ENSP00000265715:Y247H	ENSP00000265715:Y247H	Y	+	1	0	0	SLC26A4	107102764	107102764	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.179000	0.42528	0.968000	0.38212	0.528000	0.53228	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_000441			138	137		665	647	1		1			0	0	129	0		1	0	0	0	0	0	0	138	665
SLC26A4	5172	broad.mit.edu	37	7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	593	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)			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						GAAACTAATAAAAAGTGGACA	0.338									Pendred syndrome																													ENST00000265715.3	1.000000	0.280000	7.300000e-01	3.900000e-01	0.530000	0.567341	0.530000	0.500000																										0				46						c.(1777-1779)Aaa>Caa		solute carrier family 26 (anion exchanger), member 4							83.0	89.0	87.0					7																	107341615		2203	4300	6503	SO:0001583	missense	5172	0	0		Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	g.chr7:107341615A>C	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.1777A>C	chr7.hg19:g.107341615A>C	ENSP00000265715:p.Lys593Gln	0					SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q|SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q	p.K593Q	NM_000441.1	NP_000432.1	1	2	3	2.000345	O43511	S26A4_HUMAN		16	2001	+			B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	1	1	hg19	c.1777A>C	CCDS5746.1	0	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884273	0.51908	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95656	-3.35;-3.71;-3.77;-3.76	5.72	4.55	0.56014	5.72	4.55	0.56014	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.054607	0.64402	N	0.000001	D	0.94614	0.8264	M	0.69185	2.1	0.38988	D	0.959096	B;B;B	0.30793	0.251;0.295;0.046	B;B;B	0.37943	0.141;0.237;0.261	D	0.92680	0.6157	10	0.33141	T	0.24	.	13.0168	0.58762	0.8651:0.1348:0.0:0.0	.	154;180;593	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Q	593;154;180;162	ENSP00000265715:K593Q;ENSP00000439743:K154Q;ENSP00000437427:K180Q;ENSP00000441209:K162Q	ENSP00000265715:K593Q	K	+	1	0	0	SLC26A4	107128851	107128851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	0.987000	0.38709	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-14.037990	1	0.170000	NM_000441			12	12		265	259	0		1			0	0	76	0		9.990541e-01	0	0	0	0	0	0	12	265
CBLL1	79872	broad.mit.edu	37	7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	476	Pro-rich.				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)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463																																						ENST00000440859.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1426-1428)cCt>cAt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							133.0	140.0	138.0					7																	107399574		2203	4300	6503	SO:0001583	missense	79872	0	0					g.chr7:107399574C>A	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.1427C>A	chr7.hg19:g.107399574C>A	ENSP00000401277:p.Pro476His	0					CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	p.P476H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	1	2	3	2.000345	Q75N03	HAKAI_HUMAN		6	1894	+			B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	1	1	hg19	c.1427C>A	CCDS5747.1	1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.250236	0.59212	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.37411	1.2;1.2	5.15	4.26	0.50523	5.15	4.26	0.50523	.	0.057309	0.64402	D	0.000001	T	0.43787	0.1263	L	0.56769	1.78	0.24350	N	0.99493	D;D	0.53885	0.963;0.963	P;P	0.49140	0.601;0.601	T	0.40794	-0.9544	10	0.87932	D	0	-1.7142	13.4661	0.61254	0.0:0.9239:0.0:0.0761	.	475;476	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	476;355;475;267	ENSP00000401277:P476H;ENSP00000222597:P475H	ENSP00000222597:P475H	P	+	2	0	0	CBLL1	107186810	107186810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	1.172000	0.42781	0.441000	0.28932	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-2.782097	1	0.170000	NM_024814			123	122		566	548	1		1	1		0	0	136	0		1	9.999998e-01	0	28	0	73	0	123	566
SLC26A3	1811	broad.mit.edu	37	7	107416898	107416898	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	559	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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.A559V(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						AAACCTTACAGCATCGATAAG	0.383																																						ENST00000340010.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										1	Substitution - Missense(1)	p.A559V(1)	central_nervous_system(1)	46						c.(1675-1677)gCt>gAt		solute carrier family 26 (anion exchanger), member 3							104.0	101.0	102.0					7																	107416898		2203	4300	6503	SO:0001630	splice_region_variant	1811	0	0					g.chr7:107416898G>T	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.1677+1C>A	chr7.hg19:g.107416898G>T		0					SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	p.A559D	NM_000111.2	NP_000102.1	1	2	3	2.000345	P40879	S26A3_HUMAN		15	1860	-				Splice_Site	SNP	ENST00000340010.5	1	0	hg19	c.1676C>A	CCDS5748.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938086	0.73557	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89123	-2.47;-2.47	5.98	5.11	0.69529	5.98	5.11	0.69529	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.255061	0.44902	D	0.000418	D	0.90800	0.7111	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.935;0.919	P;P	0.49953	0.627;0.616	D	0.89021	0.3435	10	0.17832	T	0.49	.	15.0089	0.71533	0.0679:0.0:0.9321:0.0	.	524;559	G5E9U3;P40879	.;S26A3_HUMAN	D	524;559	ENSP00000415817:A524D;ENSP00000345873:A559D	ENSP00000345873:A559D	A	-	2	0	0	SLC26A3	107204134	107204134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	1.550000	0.49438	0.591000	0.81541	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-19.991300	1	0.170000	NM_000111	Missense_Mutation		45	44		258	254	1		1	0		0	0	66	0		1	0	0	0	0	1	0	45	258
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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.E533K(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						TTCACTCCTTCTGGCTCATAC	0.378																																						ENST00000340010.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E533K(1)	lung(1)	46						c.(1597-1599)Gaa>Taa		solute carrier family 26 (anion exchanger), member 3							115.0	108.0	111.0					7																	107416977		2203	4300	6503	SO:0001587	stop_gained	1811	0	0					g.chr7:107416977C>A	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.1597G>T	chr7.hg19:g.107416977C>A	ENSP00000345873:p.Glu533*	0					SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	p.E533*	NM_000111.2	NP_000102.1	1	2	3	2.000345	P40879	S26A3_HUMAN		15	1781	-				Nonsense_Mutation	SNP	ENST00000340010.5	0	1	hg19	c.1597G>T	CCDS5748.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.477904	0.96291	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.82	4.93	0.64822	5.82	4.93	0.64822	.	0.397106	0.29948	N	0.010784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	.	.	.	X	498;533	.	ENSP00000345873:E533X	E	-	1	0	0	SLC26A3	107204213	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_000111			46	46		213	209	1		1	0		0	0	62	0		1	0	0	0	0	1	0	46	213
SLC26A3	1811	broad.mit.edu	37	7	107423656	107423656	+	Silent	SNP	G	G	A	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	371					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)			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						TTACCTGATTGCCATCAAGTG	0.418																																						ENST00000340010.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1111-1113)ggC>ggT		solute carrier family 26 (anion exchanger), member 3		G		1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	100.0		1113	3.5	1.0	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	SLC26A3	NM_000111.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		371/765	107423656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1811	0	0					g.chr7:107423656G>A	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.1113C>T	chr7.hg19:g.107423656G>A		0					SLC26A3_ENST00000422236.2_Silent_p.G336G	p.G371G	NM_000111.2	NP_000102.1	1	2	3	2.000345	P40879	S26A3_HUMAN		9	1297	-				Silent	SNP	ENST00000340010.5	1	1	hg19	c.1113C>T	CCDS5748.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_000111			94	93		404	394	1		1			0	0	82	0		1	0	0	0	0	0	0	94	404
SLC26A3	1811	broad.mit.edu	37	7	107434255	107434255	+	Missense_Mutation	SNP	C	C	T	rs10280704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107434255C>T	ENST00000340010.5	-	3	387	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R33Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	68			R -> Q (in dbSNP:rs10280704).		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)			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						TTCTTTAAGCCGGTATGCTGG	0.413													C|||	61	0.0121805	0.0439	0.0043	5008	,	,		16732	0.0		0.0	False		,,,				2504	0.0					ENST00000340010.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(202-204)cGg>cAg		solute carrier family 26 (anion exchanger), member 3		C	GLN/ARG	161,4245	109.1+/-147.4	3,155,2045	87.0	82.0	84.0		203	-1.9	0.0	7	dbSNP_119	84	0,8600		0,0,4300	yes	missense	SLC26A3	NM_000111.2	43	3,155,6345	TT,TC,CC		0.0,3.6541,1.2379	benign	68/765	107434255	161,12845	2203	4300	6503	SO:0001583	missense	1811	447	121412	59				g.chr7:107434255C>T	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.203G>A	chr7.hg19:g.107434255C>T	ENSP00000345873:p.Arg68Gln	0					SLC26A3_ENST00000422236.2_Missense_Mutation_p.R33Q	p.R68Q	NM_000111.2	NP_000102.1	1	2	3	2.000345	P40879	S26A3_HUMAN		3	387	-				Missense_Mutation	SNP	ENST00000340010.5	1	0	hg19	c.203G>A	CCDS5748.1	1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	C	9.539	1.112823	0.20795	0.036541	0.0	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91521	-2.86;-2.86;-2.86	5.63	-1.9	0.07665	5.63	-1.9	0.07665	.	0.790426	0.12345	N	0.477121	T	0.60143	0.2246	L	0.39467	1.215	0.09310	N	1	P;P	0.37083	0.468;0.581	B;B	0.34931	0.04;0.192	T	0.63274	-0.6674	10	0.36615	T	0.2	.	11.3351	0.49498	0.0:0.4682:0.0:0.5318	rs10280704;rs52833091;rs10280704	33;68	G5E9U3;P40879	.;S26A3_HUMAN	Q	33;68;68	ENSP00000415817:R33Q;ENSP00000345873:R68Q;ENSP00000395955:R68Q	ENSP00000345873:R68Q	R	-	2	0	0	SLC26A3	107221491	107221491	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.202000	0.09451	-0.413000	0.07507	0.491000	0.48974	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1		2	2	2	1		1	0	48		48	48	1	2.060000	-2.444571	0	0.170000	NM_000111			62	62		265	260	1		1			1	0	48	0		1	0	0	0	0	0	0	62	265
DLD	1738	broad.mit.edu	37	7	107556055	107556055	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107556055C>T	ENST00000205402.5	+	9	1070	c.789C>T	c.(787-789)cgC>cgT	p.R263R	DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	ACTTTCAACGCATCCTTCAAA	0.358																																						ENST00000205402.5	1.000000	0.080000	3.100000e-01	1.400000e-01	0.200000	0.261372	0.200000	0.190000																										0				20						c.(787-789)cgC>cgT		dihydrolipoamide dehydrogenase	Flavin adenine dinucleotide(DB03147)						97.0	97.0	97.0					7																	107556055		2203	4300	6503	SO:0001819	synonymous_variant	1738	0	0					g.chr7:107556055C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.789C>T	chr7.hg19:g.107556055C>T		0					DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R|DLD_ENST00000437604.2_Silent_p.R215R	p.R263R	NM_000108.3	NP_000099.2	1	2	3	2.000345	P09622	DLDH_HUMAN		9	1070	+			B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	0	1	hg19	c.789C>T	CCDS5749.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	0	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-3.343273	1	0.170000	NM_000108			7	6		421	415	0		1	1		0	0	64	0		9.796243e-01	9.213742e-01	0	13	0	259	0	7	421
LAMB1	3912	broad.mit.edu	37	7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T	rs201609456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000222399.6	-	30	4873	c.4643G>A	c.(4642-4644)cGt>cAt	p.R1548H	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1548	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AACTCGTTCACGTATATCTTC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18465	0.0		0.001	False		,,,				2504	0.0					ENST00000222399.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(4642-4644)cGt>cAt		laminin, beta 1							200.0	167.0	179.0					7																	107569959		2203	4300	6503	SO:0001583	missense	3912	4	121410	35				g.chr7:107569959C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4643G>A	chr7.hg19:g.107569959C>T	ENSP00000222399:p.Arg1548His	0					LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H|LAMB1_ENST00000474380.1_5'UTR	p.R1548H	NM_002291.2	NP_002282.2	1	2	3	2.000345	P07942	LAMB1_HUMAN		30	4873	-			Q14D91	Missense_Mutation	SNP	ENST00000222399.6	1	1	hg19	c.4643G>A	CCDS5750.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.45	3.626031	0.66901	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.78246	-1.16;-1.16	5.42	5.42	0.78866	5.42	5.42	0.78866	Prefoldin (1);	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.603;1.0	B;D	0.77557	0.093;0.99	D	0.85935	0.1454	9	0.48119	T	0.1	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	1548;1572	P07942;G3XAI2	LAMB1_HUMAN;.	H	1572;1548	ENSP00000377191:R1572H;ENSP00000222399:R1548H	ENSP00000222399:R1548H	R	-	2	0	0	LAMB1	107357195	107357195	0.997000	0.39634	0.946000	0.38457	0.987000	0.75469	3.526000	0.53509	2.809000	0.96659	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_002291			80	77		338	333	1		1	1		0	0	88	0		1	1	0	19	0	949	0	80	338
LAMB1	3912	broad.mit.edu	37	7	107616323	107616323	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000222399.6	-	10	1231		c.e10-1		LAMB1_ENST00000393561.1_Splice_Site|LAMB1_ENST00000393560.1_Splice_Site	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAGTTACATTCTGCGTGACAA	0.483																																						ENST00000222399.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.e10-1		laminin, beta 1							73.0	59.0	64.0					7																	107616323		2203	4300	6503	SO:0001630	splice_region_variant	3912	0	0					g.chr7:107616323C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1001-1G>T	chr7.hg19:g.107616323C>A		0					LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000393561.1_Splice_Site		NM_002291.2	NP_002282.2	1	2	3	2.000345	P07942	LAMB1_HUMAN		10	1231	-			Q14D91	Splice_Site	SNP	ENST00000222399.6	1	1	hg19		CCDS5750.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133344	0.77662	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LAMB1	107403559	107403559	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_002291	Intron		41	41		165	164	1		1	1		0	0	43	0		1	4.154398e-02	0	2	0	0	0	41	165
LAMB1	3912	broad.mit.edu	37	7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000222399.6	-	6	744	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	LAMB1_ENST00000393561.1_Missense_Mutation_p.A196T|LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	172	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGAAACGAGGCCTCACAGTCA	0.463																																						ENST00000222399.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A172T(1)	large_intestine(1)	82						c.(514-516)Gcc>Acc		laminin, beta 1							107.0	104.0	105.0					7																	107626718		2203	4300	6503	SO:0001583	missense	3912	0	0					g.chr7:107626718C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.514G>A	chr7.hg19:g.107626718C>T	ENSP00000222399:p.Ala172Thr	0					LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T|LAMB1_ENST00000393561.1_Missense_Mutation_p.A196T	p.A172T	NM_002291.2	NP_002282.2	1	2	3	2.000345	P07942	LAMB1_HUMAN		6	744	-			Q14D91	Missense_Mutation	SNP	ENST00000222399.6	1	1	hg19	c.514G>A	CCDS5750.1	1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813822	0.32053	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75367	-0.93;-0.93;-0.93	5.86	4.72	0.59763	5.86	4.72	0.59763	Laminin, N-terminal (3);	.	.	.	.	T	0.52677	0.1749	N	0.04245	-0.25	0.25527	N	0.987313	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.007;0.008;0.002	T	0.39375	-0.9617	9	0.25106	T	0.35	.	11.2059	0.48769	0.0:0.0729:0.0:0.9271	.	172;172;196	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	196;172;172	ENSP00000377191:A196T;ENSP00000222399:A172T;ENSP00000377190:A172T	ENSP00000222399:A172T	A	-	1	0	0	LAMB1	107413954	107413954	0.363000	0.24989	1.000000	0.80357	0.476000	0.33039	-0.014000	0.12656	1.051000	0.40369	-0.302000	0.09304	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_002291			66	66		382	376	1		1	1		0	0	98	0		1	1	0	18	0	462	0	66	382
LAMB1	3912	broad.mit.edu	37	7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000222399.6	-	4	508	c.278G>T	c.(277-279)aGc>aTc	p.S93I	LAMB1_ENST00000393561.1_Missense_Mutation_p.S117I|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATGAGATGGCTGTCAGGATT	0.423																																						ENST00000222399.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				82						c.(277-279)aGc>aTc		laminin, beta 1							164.0	139.0	147.0					7																	107638873		2203	4300	6503	SO:0001583	missense	3912	0	0					g.chr7:107638873C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.278G>T	chr7.hg19:g.107638873C>A	ENSP00000222399:p.Ser93Ile	0					LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I|LAMB1_ENST00000393561.1_Missense_Mutation_p.S117I|U3_ENST00000458938.1_RNA	p.S93I	NM_002291.2	NP_002282.2	1	2	3	2.000345	P07942	LAMB1_HUMAN		4	508	-			Q14D91	Missense_Mutation	SNP	ENST00000222399.6	1	1	hg19	c.278G>T	CCDS5750.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603508	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976	T;T;T;T	0.77098	-1.03;-1.03;-1.03;-1.07	6.08	6.08	0.98989	6.08	6.08	0.98989	Laminin, N-terminal (3);	.	.	.	.	D	0.90978	0.7163	M	0.89715	3.055	0.54753	D	0.99998	D;D;D;D	0.76494	0.998;0.988;0.999;0.999	D;D;D;D	0.79108	0.948;0.917;0.992;0.958	D	0.91522	0.5235	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	179;93;93;117	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	117;93;93;179	ENSP00000377191:S117I;ENSP00000222399:S93I;ENSP00000377190:S93I;ENSP00000412686:S179I	ENSP00000222399:S93I	S	-	2	0	0	LAMB1	107426109	107426109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.792000	0.55476	2.894000	0.99253	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_002291			70	69		388	380	1		1	1		0	0	86	0		1	1	0	9	0	369	0	70	388
LAMB4	22798	broad.mit.edu	37	7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1549	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				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						AGCTTTTGGGCTCCATCTGCT	0.388																																						ENST00000388781.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(4645-4647)Gcc>Acc		laminin, beta 4							220.0	220.0	220.0					7																	107677867		2203	4300	6503	SO:0001583	missense	22798	0	0					g.chr7:107677867C>T	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.4645G>A	chr7.hg19:g.107677867C>T	ENSP00000373433:p.Ala1549Thr	0					LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR	p.A1549T	NM_007356.2	NP_031382.2	1	2	3	2.000345	A4D0S4	LAMB4_HUMAN		30	4728	-			A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	1	1	hg19	c.4645G>A	CCDS34732.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204673	0.58234	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.38401	1.14;1.14;1.46;1.18	4.89	3.01	0.34805	4.89	3.01	0.34805	.	0.437967	0.18968	N	0.126218	T	0.34600	0.0903	L	0.39898	1.24	0.53688	D	0.99997	P;B	0.43788	0.817;0.005	P;B	0.47864	0.559;0.006	T	0.06698	-1.0812	10	0.54805	T	0.06	.	7.4753	0.27371	0.0:0.7801:0.0:0.2199	.	1549;1549	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1549;1549;575;1549	ENSP00000205386:A1549T;ENSP00000373433:A1549T;ENSP00000416562:A575T;ENSP00000373432:A1549T	ENSP00000205386:A1549T	A	-	1	0	0	LAMB4	107465103	107465103	0.014000	0.17966	0.430000	0.26722	0.739000	0.42172	0.892000	0.28322	0.685000	0.31468	-0.136000	0.14681	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1		2	2	2	0		0	0	177		177	176	1	2.060000	-20.000000	1	0.170000	XM_209857			147	143		814	799	1		1			0	0	177	0		1	0	0	0	0	0	0	147	814
LAMB4	22798	broad.mit.edu	37	7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D|LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	897	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				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						TCCATAGTAACCATCAATACA	0.418																																						ENST00000388781.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(2689-2691)gGt>gAt		laminin, beta 4							122.0	120.0	121.0					7																	107706353		2203	4300	6503	SO:0001583	missense	22798	1	121410	29				g.chr7:107706353C>T	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.2690G>A	chr7.hg19:g.107706353C>T	ENSP00000373433:p.Gly897Asp	0					LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D|LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D	p.G897D	NM_007356.2	NP_031382.2	1	2	3	2.000345	A4D0S4	LAMB4_HUMAN		21	2773	-			A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	1	1	hg19	c.2690G>A	CCDS34732.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237985	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.68624	-0.34;-0.34;-0.34	4.69	4.69	0.59074	4.69	4.69	0.59074	EGF-like, laminin (4);	0.000000	0.52532	D	0.000073	D	0.84179	0.5415	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.6563	0.51320	0.0:0.9185:0.0:0.0815	.	897	A4D0S4	LAMB4_HUMAN	D	897	ENSP00000205386:G897D;ENSP00000373433:G897D;ENSP00000373432:G897D	ENSP00000205386:G897D	G	-	2	0	0	LAMB4	107493589	107493589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.535000	0.67173	2.606000	0.88127	0.563000	0.77884	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	XM_209857			71	71		297	291	1		1			0	0	94	0		1	0	0	0	0	0	0	71	297
LAMB4	22798	broad.mit.edu	37	7	107743565	107743565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000418464.1_Silent_p.G368G|LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	368	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				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						CGCAGTGCTGCCCCTCAGTGT	0.612																																						ENST00000388781.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				97						c.(1102-1104)ggG>ggA		laminin, beta 4							61.0	51.0	55.0					7																	107743565		2203	4300	6503	SO:0001819	synonymous_variant	22798	0	0					g.chr7:107743565C>T	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.1104G>A	chr7.hg19:g.107743565C>T		0					LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000418464.1_Silent_p.G368G	p.G368G	NM_007356.2	NP_031382.2	1	2	3	2.000345	A4D0S4	LAMB4_HUMAN		10	1187	-			A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	1	1	hg19	c.1104G>A	CCDS34732.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	XM_209857			28	28		129	127	1		1			0	0	27	0		1	0	0	0	0	0	0	28	129
NRCAM	4897	broad.mit.edu	37	7	107790514	107790514	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000425651.2	-	30	3755	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000351718.4_Silent_p.D1131D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433																																						ENST00000425651.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3754-3756)gaC>gaT		neuronal cell adhesion molecule							217.0	192.0	201.0					7																	107790514		2203	4300	6503	SO:0001819	synonymous_variant	4897	2	121412	36				g.chr7:107790514G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3756C>T	chr7.hg19:g.107790514G>A		0					NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000351718.4_Silent_p.D1131D	p.D1252D	NM_001037132.2	NP_001032209.1	1	2	3	2.000345	Q92823	NRCAM_HUMAN		30	3755	-			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	1	1	hg19	c.3756C>T	CCDS47686.1	1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	0	NRCAM	107577750	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_001037132			176	171		728	709	1		1	0		0	0	158	0		1	8.702394e-01	0	0	0	17	0	176	728
NRCAM	4897	broad.mit.edu	37	7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000425651.2	-	18	2064	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTGGCTTGTGCATTGCATCT	0.502																																						ENST00000425651.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				65						c.(2065-2067)Cac>Aac		neuronal cell adhesion molecule							76.0	73.0	74.0					7																	107825029		2203	4300	6503	SO:0001583	missense	4897	0	0					g.chr7:107825029G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2065C>A	chr7.hg19:g.107825029G>T	ENSP00000401244:p.His689Asn	0					NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N	p.H689N	NM_001037132.2	NP_001032209.1	1	2	3	2.000345	Q92823	NRCAM_HUMAN		18	2064	-			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	1	1	hg19	c.2065C>A	CCDS47686.1	1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213949	0.22289	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.46	4.53	0.55603	5.46	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049726	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.005;0.01;0.006;0.004	T	0.15925	-1.0420	10	0.27785	T	0.31	.	15.0261	0.71671	0.0:0.0:0.8572:0.1428	.	689;670;670;673;689	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	689;689;670;689;673;670;689;689;673	ENSP00000368314:H689N;ENSP00000407858:H670N;ENSP00000325269:H673N;ENSP00000368310:H670N;ENSP00000401244:H689N;ENSP00000368308:H689N	ENSP00000325269:H673N	H	-	1	0	0	NRCAM	107612265	107612265	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.734000	0.74801	2.548000	0.85928	0.591000	0.81541	CAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_001037132			29	28		136	132	1		1	0		0	0	34	0		1	7.972695e-01	0	0	0	16	0	29	136
NRCAM	4897	broad.mit.edu	37	7	107831702	107831702	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000425651.2	-	16	1928	c.1929T>G	c.(1927-1929)gtT>gtG	p.V643V	NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379028.3_Silent_p.V643V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000351718.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTTACCGTAAACGGGAGCTG	0.318																																						ENST00000425651.2	1.000000	0.910000	1	9.900000e-01	0.990000	0.994256	0.990000	1.000000																										0				65						c.(1927-1929)gtT>gtG		neuronal cell adhesion molecule							59.0	60.0	60.0					7																	107831702		1825	4081	5906	SO:0001819	synonymous_variant	4897	0	0					g.chr7:107831702A>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1929T>G	chr7.hg19:g.107831702A>C		0					NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379028.3_Silent_p.V643V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron	p.V643V	NM_001037132.2	NP_001032209.1	1	2	3	2.000345	Q92823	NRCAM_HUMAN		16	1928	-			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	1	1	hg19	c.1929T>G	CCDS47686.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-8.376514	1	0.170000	NM_001037132			9	9		47	47	1		1			0	0	19	0		9.955231e-01	0	0	0	0	0	0	9	47
PNPLA8	50640	broad.mit.edu	37	7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000422087.1	-	10	2111	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	569	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)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328																																						ENST00000422087.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1705-1707)Gta>Tta		patatin-like phospholipase domain containing 8							67.0	68.0	68.0					7																	108128376		2203	4300	6503	SO:0001583	missense	50640	0	0					g.chr7:108128376C>A	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.1705G>T	chr7.hg19:g.108128376C>A	ENSP00000410804:p.Val569Leu	0					PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L	p.V569L	NM_015723.3	NP_056538.1	1	2	3	2.000345	Q9NP80	PLPL8_HUMAN		10	2111	-			A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	1	1	hg19	c.1705G>T	CCDS34733.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.373240	0.95923	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.6	5.6	0.85130	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.56280	1.765	0.80722	D	1	P	0.52692	0.955	P	0.54060	0.741	T	0.80926	-0.1164	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	569	Q9NP80	PLPL8_HUMAN	L	569;569;469;569;469	ENSP00000257694:V569L;ENSP00000410804:V569L;ENSP00000387789:V469L;ENSP00000406779:V569L;ENSP00000402274:V469L	ENSP00000257694:V569L	V	-	1	0	0	PNPLA8	107915612	107915612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_015723			56	56		250	245	1		1	1		0	0	73	0		1	9.999999e-01	0	26	0	87	0	56	250
PNPLA8	50640	broad.mit.edu	37	7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000422087.1	-	4	786	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	127					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)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318																																						ENST00000422087.1	1.000000	0.600000	1	7.400000e-01	0.930000	0.892497	0.930000	1.000000																										0				29						c.(379-381)gCt>gTt		patatin-like phospholipase domain containing 8							58.0	61.0	60.0					7																	108155556		2203	4299	6502	SO:0001583	missense	50640	0	0					g.chr7:108155556G>A	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.380C>T	chr7.hg19:g.108155556G>A	ENSP00000410804:p.Ala127Val	0					PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V	p.A127V	NM_015723.3	NP_056538.1	1	2	3	2.000345	Q9NP80	PLPL8_HUMAN		4	786	-			A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	1	1	hg19	c.380C>T	CCDS34733.1	1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450732	0.26074	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98120	-3.51;-4.73;-3.51;-4.73;-4.71;-4.73;-4.7	5.78	3.05	0.35203	5.78	3.05	0.35203	.	0.352176	0.32190	N	0.006453	D	0.93602	0.7957	N	0.25890	0.77	0.25824	N	0.984256	B	0.12013	0.005	B	0.11329	0.006	D	0.85914	0.1442	10	0.36615	T	0.2	.	9.7728	0.40601	0.2568:0.0:0.7432:0.0	.	127	Q9NP80	PLPL8_HUMAN	V	127;127;127;127;27;127;27;127	ENSP00000394988:A127V;ENSP00000257694:A127V;ENSP00000373380:A127V;ENSP00000410804:A127V;ENSP00000387789:A27V;ENSP00000406779:A127V;ENSP00000402274:A27V	ENSP00000257694:A127V	A	-	2	0	0	PNPLA8	107942792	107942792	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.621000	0.46418	0.386000	0.24997	-1.019000	0.02448	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-7.959561	1	0.170000	NM_015723			22	22		263	256	0		1	1		0	0	62	0		9.999987e-01	9.934839e-01	0	13	0	85	0	22	263
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393																																						ENST00000379007.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				15						c.(247-249)Cat>Tat		chromosome 7 open reading frame 66							187.0	161.0	169.0					7																	108524165		2203	4300	6503	SO:0001583	missense	154907	0	0					g.chr7:108524165G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.247C>T	chr7.hg19:g.108524165G>A	ENSP00000368292:p.His83Tyr	0						p.H83Y	NM_001024607.1	NP_001019778.1	1	2	3	2.000345	A4D0T2	CG066_HUMAN		2	301	-				Missense_Mutation	SNP	ENST00000379007.2	1	1	hg19	c.247C>T	CCDS34735.1	1	.	.	.	.	.	.	.	.	.	.	g	6.269	0.417657	0.11870	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.84	1.97	0.26223	3.84	1.97	0.26223	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.32289	0.143	T	0.30119	-0.9989	7	.	.	.	.	4.4772	0.11750	0.1159:0.0:0.6639:0.2202	.	83	A4D0T2	CG066_HUMAN	Y	83	.	.	H	-	1	0	0	C7orf66	108311401	108311401	0.228000	0.23718	0.009000	0.14445	0.085000	0.17905	0.634000	0.24614	0.552000	0.29026	0.552000	0.68991	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	0	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-19.999970	1	0.170000	NM_001024607			59	59		384	375	1		1			0	0	104	0		1	0	0	0	0	0	0	59	384
LRRN3	54674	broad.mit.edu	37	7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000422987.3	+	2	988	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	53	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		AGCATCTACAGTGGATTGTAA	0.378																																						ENST00000422987.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				55						c.(157-159)Gtg>Ttg		leucine rich repeat neuronal 3							153.0	140.0	145.0					7																	110762985		2203	4300	6503	SO:0001583	missense	54674	0	0					g.chr7:110762985G>T	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.157G>T	chr7.hg19:g.110762985G>T	ENSP00000412417:p.Val53Leu	0					IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron	p.V53L	NM_018334.4	NP_060804.3	1	2	3	2.000345	Q9H3W5	LRRN3_HUMAN		2	988	+			O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	1	1	hg19	c.157G>T	CCDS5754.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336120	0.81801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.98	5.98	0.97165	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.52532	D	0.000068	D	0.99162	0.9710	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99364	1.0918	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	53	Q9H3W5	LRRN3_HUMAN	L	53	ENSP00000312001:V53L;ENSP00000397312:V53L;ENSP00000412417:V53L;ENSP00000407927:V53L	ENSP00000312001:V53L	V	+	1	0	0	LRRN3	110550221	110550221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.835000	0.97688	0.650000	0.86243	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	1	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-20.000000	1	0.170000	NM_018334			76	75		556	541	1		1	0		0	0	138	0		1	1.154953e-01	0	0	0	5	0	76	556
DOCK4	9732	broad.mit.edu	37	7	111379299	111379299	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000437633.1	-	48	5352	c.5096C>T	c.(5095-5097)gCt>gTt	p.A1699V	DOCK4_ENST00000428084.1_Splice_Site_p.A1708V|DOCK4_ENST00000494651.2_Splice_Site_p.A582V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1699	Ser-rich.				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)			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)				CAAAGGAGAAGCTGGGAAGAG	0.527																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(5095-5097)gCt>gTt		dedicator of cytokinesis 4							139.0	141.0	141.0					7																	111379299		2018	4194	6212	SO:0001630	splice_region_variant	9732	0	0					g.chr7:111379299G>A		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.5096-1C>T	chr7.hg19:g.111379299G>A		0					DOCK4_ENST00000428084.1_Splice_Site_p.A1708V|DOCK4_ENST00000494651.2_Splice_Site_p.A582V	p.A1699V	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		48	5352	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	1	0	hg19	c.5096C>T	CCDS47688.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409646|4.409646	0.83340|0.83340	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.05|6.05	6.05|6.05	0.98169|0.98169	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.049928|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.43152|0.43152	1.355|1.355	0.45046|0.45046	D|D	0.998063|0.998063	B;B;P;P;P;D|.	0.67145|.	0.31;0.437;0.593;0.534;0.664;0.996|.	B;B;B;B;B;P|.	0.61658|.	0.175;0.327;0.327;0.175;0.327;0.892|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.22109|.	T|.	0.4|.	.|.	16.8106|16.8106	0.85717|0.85717	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	606;582;1744;1699;1708;12|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	V|F	1687;1708;582;1699;1696|1160;1732	ENSP00000410746:A1708V;ENSP00000440944:A582V;ENSP00000404179:A1699V|.	ENSP00000345432:A1696V|.	A|L	-|-	2|1	0|0	0|0	DOCK4|DOCK4	111166535|111166535	111166535|111166535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.463000|4.463000	0.60128|0.60128	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCT|CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_014705	Missense_Mutation		49	48		231	226	1		1	0		0	0	66	0		1	9.956624e-01	0	0	0	42	0	49	231
DOCK4	9732	broad.mit.edu	37	7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000437633.1	-	45	5130	c.4874G>T	c.(4873-4875)aGg>aTg	p.R1625M	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1634M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1625					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)			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)				AGGAATTACCCTGGTACCATC	0.463																																						ENST00000437633.1	1.000000	0.380000	1	5.800000e-01	0.850000	0.813599	0.850000	1.000000																										0				72						c.(4873-4875)aGg>aTg		dedicator of cytokinesis 4							72.0	69.0	70.0					7																	111381614		1887	4123	6010	SO:0001583	missense	9732	0	0					g.chr7:111381614C>A		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.4874G>T	chr7.hg19:g.111381614C>A	ENSP00000404179:p.Arg1625Met	0					DOCK4_ENST00000428084.1_Missense_Mutation_p.R1634M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M	p.R1625M	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		45	5130	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	1	1	hg19	c.4874G>T	CCDS47688.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869810|3.869810	0.72065|0.72065	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.08370	.|3.9;3.1;3.89	5.24|5.24	4.36|4.36	0.52297|0.52297	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.143180	.|0.64402	.|D	.|0.000010	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.47716|0.47716	1.5|1.5	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D;D;D	.|0.76494	.|0.995;0.997;0.999;0.999;0.997	.|D;D;D;D;D	.|0.71414	.|0.922;0.973;0.96;0.96;0.973	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.72032	.|D	.|0.01	.|.	14.0431|14.0431	0.64689|0.64689	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	.|532;508;1670;1625;1634	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	W|M	1086;1658|1613;1634;508;1625;1622	.|ENSP00000410746:R1634M;ENSP00000440944:R508M;ENSP00000404179:R1625M	.|ENSP00000345432:R1622M	G|R	-|-	1|2	0|0	0|0	DOCK4|DOCK4	111168850|111168850	111168850|111168850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.359000|5.359000	0.66074|0.66074	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GGG|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-11.281040	1	0.170000	NM_014705			7	7		95	94	0		1	0		0	0	26	0		9.811872e-01	6.905919e-01	0	1	0	32	0	7	95
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000437633.1	-	43	4892	c.4636C>T	c.(4636-4638)Ctg>Ttg	p.L1546L	DOCK4_ENST00000428084.1_Silent_p.L1555L|DOCK4_ENST00000494651.2_Silent_p.L429L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	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)			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)				TCAAGCATCAGCTCTCTTAAT	0.448																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998592	0.990000	1.000000																										0				72						c.(4636-4638)Ctg>Ttg		dedicator of cytokinesis 4							99.0	97.0	98.0					7																	111386404		1909	4136	6045	SO:0001819	synonymous_variant	9732	0	0					g.chr7:111386404G>A		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.4636C>T	chr7.hg19:g.111386404G>A		0					DOCK4_ENST00000428084.1_Silent_p.L1555L|DOCK4_ENST00000494651.2_Silent_p.L429L	p.L1546L	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		43	4892	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	1	1	hg19	c.4636C>T	CCDS47688.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-10.342310	1	0.170000	NM_014705			13	13		65	64	1		1	1		0	0	16	0		9.996638e-01	9.959278e-01	0	2	0	49	0	13	65
DOCK4	9732	broad.mit.edu	37	7	111422941	111422941	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000437633.1	-	34	3793	c.3537T>C	c.(3535-3537)atT>atC	p.I1179I	DOCK4_ENST00000428084.1_Silent_p.I1188I|DOCK4_ENST00000494651.2_Silent_p.I62I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1179					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)			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)				CTGTGCAGCCAATCTTTTTGC	0.383																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(3535-3537)atT>atC		dedicator of cytokinesis 4							182.0	176.0	178.0					7																	111422941		1844	4085	5929	SO:0001819	synonymous_variant	9732	0	0					g.chr7:111422941A>G		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.3537T>C	chr7.hg19:g.111422941A>G		0					DOCK4_ENST00000428084.1_Silent_p.I1188I|DOCK4_ENST00000494651.2_Silent_p.I62I	p.I1179I	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		34	3793	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	1	1	hg19	c.3537T>C	CCDS47688.1	1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315908	0.23908	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.42	2.95	0.34219	5.42	2.95	0.34219	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51710	-0.8671	4	.	.	.	.	9.209	0.37306	0.8401:0.0:0.1599:0.0	.	.	.	.	S	640;1212	.	.	L	-	2	0	0	DOCK4	111210177	111210177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.018000	0.40991	0.401000	0.25424	0.455000	0.32223	TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000	NM_014705			79	79		462	451	0		1	0		0	0	125	0		1	9.060321e-01	0	0	0	26	0	79	462
DOCK4	9732	broad.mit.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000437633.1	-	25	2969	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					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)			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)				AACTGGAACCGCATTGCTGAG	0.512																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(2713-2715)Cgg>Tgg		dedicator of cytokinesis 4							160.0	158.0	159.0					7																	111484842		2049	4201	6250	SO:0001583	missense	9732	1	120956	29				g.chr7:111484842G>A		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.2713C>T	chr7.hg19:g.111484842G>A	ENSP00000404179:p.Arg905Trp	0					DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	p.R905W	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		25	2969	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	1	1	hg19	c.2713C>T	CCDS47688.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	2	DOCK4	111272078	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_014705			79	78		441	437	1		1	0		0	0	159	0		1	9.631332e-01	0	0	0	32	0	79	441
DOCK4	9732	broad.mit.edu	37	7	111508079	111508079	+	Silent	SNP	C	C	T	rs368007039	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000437633.1	-	22	2497	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000428084.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	747					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)			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)				TGCTCTCTTGCGAAAGAAAGA	0.423																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999953	0.990000	1.000000																										0				72						c.(2239-2241)tcG>tcA		dedicator of cytokinesis 4		C		0,3766		0,0,1883	53.0	55.0	54.0		2241	-11.9	0.0	7		54	1,8209		0,1,4104	no	coding-synonymous	DOCK4	NM_014705.3		0,1,5987	TT,TC,CC		0.0122,0.0,0.0084		747/1967	111508079	1,11975	1883	4105	5988	SO:0001819	synonymous_variant	9732	19	120830	41				g.chr7:111508079C>T		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.2241G>A	chr7.hg19:g.111508079C>T		0					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.S747S	p.S747S	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		22	2497	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	1	1	hg19	c.2241G>A	CCDS47688.1	1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707583	0.15239	0.0	1.22E-4	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	-11.9	0.00025	5.95	-11.9	0.00025	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64228	-0.6457	4	.	.	.	.	6.0838	0.19956	0.2955:0.1037:0.5199:0.0809	.	.	.	.	H	199;735	.	.	R	-	2	0	0	DOCK4	111295315	111295315	0.000000	0.05858	0.007000	0.13788	0.970000	0.65996	-2.495000	0.00971	-5.305000	0.00017	-1.517000	0.00937	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-13.959820	1	0.170000	NM_014705			18	18		68	68	1		1	0		0	0	22	0		9.999917e-01	9.419253e-01	0	0	0	21	0	18	68
DOCK4	9732	broad.mit.edu	37	7	111575597	111575597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111575597G>A	ENST00000437633.1	-	12	1320	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	DOCK4_ENST00000428084.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	355					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)			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)				ACACTCACCTGCATTGGAGCC	0.408																																						ENST00000437633.1	1.000000	0.170000	4.800000e-01	2.400000e-01	0.330000	0.382858	0.330000	0.320000																										0				72						c.(1063-1065)gCa>gTa		dedicator of cytokinesis 4							226.0	228.0	227.0					7																	111575597		2041	4180	6221	SO:0001583	missense	9732	0	0					g.chr7:111575597G>A		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.1064C>T	chr7.hg19:g.111575597G>A	ENSP00000404179:p.Ala355Val	0					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.A355V	p.A355V	NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		12	1320	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	0	1	hg19	c.1064C>T	CCDS47688.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.443560|3.443560	0.63067|0.63067	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03065|.	4.06;4.06|.	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.110120|.	0.64402|.	D|.	0.000004|.	T|.	0.52386|.	0.1731|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25955|.	0.138;0.128;0.128|.	B;B;B|.	0.29353|.	0.045;0.101;0.045|.	T|.	0.45498|.	-0.9257|.	10|.	0.19147|.	T|.	0.46|.	.|.	20.0137|20.0137	0.97470|0.97470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355;355;355|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	V|X	343;355;355;343;354|343	ENSP00000410746:A355V;ENSP00000404179:A355V|.	ENSP00000345432:A343V|.	A|Q	-|-	2|1	0|0	0|0	DOCK4|DOCK4	111362833|111362833	111362833|111362833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.334000|9.334000	0.96470|0.96470	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCA|CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.575300	1	0.170000	NM_014705			10	10		359	348	0		1	0		0	0	66	0		9.964766e-01	7.465170e-02	0	0	0	15	0	10	359
DOCK4	9732	broad.mit.edu	37	7	111617186	111617186	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000437633.1	-	8	958		c.e8+1		DOCK4_ENST00000428084.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			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)				CGTGCAGGTACCTGATTGGCC	0.423																																						ENST00000437633.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998763	0.990000	1.000000																										0				72						c.e8+1		dedicator of cytokinesis 4							77.0	72.0	74.0					7																	111617186		1937	4131	6068	SO:0001630	splice_region_variant	9732	0	0					g.chr7:111617186C>T		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.701+1G>A	chr7.hg19:g.111617186C>T		0					DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site		NM_014705.3	NP_055520.3	1	2	3	2.000345	Q8N1I0	DOCK4_HUMAN		8	958	-		Acute lymphoblastic leukemia(1;0.0441)	O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	1	1	hg19		CCDS47688.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533283	0.85812	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	DOCK4	111404422	111404422	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.463000	0.80869	2.527000	0.85204	0.563000	0.77884	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-10.629780	1	0.170000	NM_014705	Intron		14	14		72	72	1		1	0		0	0	15	0		9.998417e-01	3.064351e-02	0	1	0	1	0	14	72
ZNF277	11179	broad.mit.edu	37	7	111936363	111936363	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	154					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274																																						ENST00000361822.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999643	0.990000	1.000000																										0				15						c.(460-462)agA>agG		zinc finger protein 277							53.0	57.0	56.0					7																	111936363		2199	4283	6482	SO:0001819	synonymous_variant	11179	0	0					g.chr7:111936363A>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.462A>G	chr7.hg19:g.111936363A>G		0					ZNF277_ENST00000450657.1_Silent_p.R154R	p.R154R	NM_021994.2	NP_068834.2	1	2	3	2.000345	Q9NRM2	ZN277_HUMAN		4	591	+			Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	1	1	hg19	c.462A>G	CCDS5755.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-16.148400	1	0.170000	NM_021994			35	33		236	227	1		1	1		0	0	69	0		1	9.996418e-01	0	27	0	57	0	35	236
ZNF277	11179	broad.mit.edu	37	7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	327					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313																																						ENST00000361822.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(979-981)tTt>tGt		zinc finger protein 277							146.0	140.0	143.0					7																	111979911		2201	4297	6498	SO:0001583	missense	11179	0	0					g.chr7:111979911T>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.980T>G	chr7.hg19:g.111979911T>G	ENSP00000354501:p.Phe327Cys	0					AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	p.F327C	NM_021994.2	NP_068834.2	1	2	3	2.000345	Q9NRM2	ZN277_HUMAN		10	1109	+			Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	1	1	hg19	c.980T>G	CCDS5755.2	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210912	0.79240	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.64618	-0.11;-0.11	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85404	0.1133	10	0.87932	D	0	-21.357	16.3035	0.82836	0.0:0.0:0.0:1.0	.	327	Q9NRM2	ZN277_HUMAN	C	327;38	ENSP00000354501:F327C;ENSP00000415735:F38C	ENSP00000354501:F327C	F	+	2	0	0	ZNF277	111767147	111767147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.798000	0.75155	2.299000	0.77371	0.528000	0.53228	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_021994			55	54		297	291	1		1	1		0	0	81	0		1	9.999856e-01	0	17	0	73	0	55	297
IFRD1	3475	broad.mit.edu	37	7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000535603.1_5'UTR	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338																																						ENST00000403825.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(97-99)Ggc>Agc		interferon-related developmental regulator 1							120.0	115.0	116.0					7																	112095820		2203	4300	6503	SO:0001583	missense	3475	0	0					g.chr7:112095820G>A	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.97G>A	chr7.hg19:g.112095820G>A	ENSP00000384477:p.Gly33Ser	0					IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S	p.G33S	NM_001550.3	NP_001541.2	1	2	3	2.000345	O00458	IFRD1_HUMAN		2	358	+			B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	1	1	hg19	c.97G>A	CCDS34736.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015458	0.93404	.	.	ENSG00000006652	ENST00000005558;ENST00000445335;ENST00000403825;ENST00000429071	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.094278	0.64402	D	0.000001	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P;B	0.48294	0.908;0.141	B;B	0.41374	0.355;0.057	T	0.08994	-1.0695	10	0.29301	T	0.29	-17.5418	18.7821	0.91937	0.0:0.0:1.0:0.0	.	33;33	C9JA65;O00458	.;IFRD1_HUMAN	S	33	ENSP00000005558:G33S;ENSP00000384477:G33S	ENSP00000005558:G33S	G	+	1	0	0	IFRD1	111883056	111883056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.506000	0.84524	0.460000	0.39030	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	0		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_001550			68	68		360	353	0		1	1		0	0	61	0		1	9.993722e-01	0	9	0	51	0	68	360
IFRD1	3475	broad.mit.edu	37	7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	52					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358																																						ENST00000403825.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(154-156)Agc>Tgc		interferon-related developmental regulator 1							150.0	144.0	146.0					7																	112095877		2203	4300	6503	SO:0001583	missense	3475	0	0					g.chr7:112095877A>T	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.154A>T	chr7.hg19:g.112095877A>T	ENSP00000384477:p.Ser52Cys	0					IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C	p.S52C	NM_001550.3	NP_001541.2	1	2	3	2.000345	O00458	IFRD1_HUMAN		2	415	+			B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	1	1	hg19	c.154A>T	CCDS34736.1	1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851288	0.91355	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.60171	0.21;0.21;0.43	5.06	5.06	0.68205	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.947;1.0	T	0.82657	-0.0349	10	0.87932	D	0	-21.3305	15.0963	0.72238	1.0:0.0:0.0:0.0	.	52;52	C9JA65;O00458	.;IFRD1_HUMAN	C	52;2;52;52;52;2;2;2	ENSP00000005558:S52C;ENSP00000384477:S52C;ENSP00000439188:S2C	ENSP00000005558:S52C	S	+	1	0	0	IFRD1	111883113	111883113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.622000	0.90953	2.026000	0.59711	0.377000	0.23210	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	0		2	2	2	0		0	0	76		76	73	1	2.060000	-20.000000	1	0.170000	NM_001550			71	71		405	396	1		1	1		0	0	76	0		1	9.998663e-01	0	13	0	63	0	71	405
IFRD1	3475	broad.mit.edu	37	7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G	rs574598683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M|IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373																																						ENST00000403825.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993602	0.990000	1.000000																										0				15						c.(1249-1251)atT>atG		interferon-related developmental regulator 1							121.0	123.0	122.0					7																	112112901		2203	4300	6503	SO:0001583	missense	3475	0	0					g.chr7:112112901T>G	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.1251T>G	chr7.hg19:g.112112901T>G	ENSP00000384477:p.Ile417Met	0					IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	p.I417M	NM_001550.3	NP_001541.2	1	2	3	2.000345	O00458	IFRD1_HUMAN		11	1512	+			B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	1	1	hg19	c.1251T>G	CCDS34736.1	1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411736	0.62399	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.81	2.13	0.27403	5.81	2.13	0.27403	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.56863	0.2014	M	0.66939	2.045	0.38321	D	0.943524	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.58216	-0.7675	10	0.72032	D	0.01	-32.4626	1.1524	0.01789	0.1586:0.223:0.1187:0.4997	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	M	417;417;152;367;80	ENSP00000005558:I417M;ENSP00000384477:I417M;ENSP00000439188:I367M;ENSP00000435635:I80M	ENSP00000005558:I417M	I	+	3	3	3	IFRD1	111900137	111900137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.129000	0.18514	0.519000	0.50382	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001550			43	42		377	368	0		1	1		0	0	77	0		1	9.999936e-01	0	8	0	148	0	43	377
TMEM168	64418	broad.mit.edu	37	7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	365						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413																																						ENST00000312814.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1093-1095)Ctt>Ttt		transmembrane protein 168							128.0	127.0	127.0					7																	112423788		2203	4300	6503	SO:0001583	missense	64418	0	0					g.chr7:112423788G>A		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.1093C>T	chr7.hg19:g.112423788G>A	ENSP00000323068:p.Leu365Phe	0					TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	p.L365F	NM_022484.4	NP_071929.3	1	2	3	2.000345	Q9H0V1	TM168_HUMAN		2	1653	-			A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	1	1	hg19	c.1093C>T	CCDS5757.1	1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016265	0.19355	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	6.07	5.17	0.71159	6.07	5.17	0.71159	.	0.175518	0.51477	D	0.000081	T	0.45418	0.1341	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38308	-0.9667	9	0.37606	T	0.19	-12.9641	7.6742	0.28476	0.0658:0.1217:0.6864:0.1262	.	365	Q9H0V1	TM168_HUMAN	F	365;365;5;17	.	ENSP00000323068:L365F	L	-	1	0	0	TMEM168	112211024	112211024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.901000	0.28445	1.513000	0.48852	0.655000	0.94253	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_022484			119	117		517	506	1		1	1		0	0	138	0		1	9.999920e-01	0	22	0	52	0	119	517
TMEM168	64418	broad.mit.edu	37	7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	98						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATCCAAACCAAAGATTGGAG	0.323																																						ENST00000312814.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				32						c.(292-294)Tgg>Cgg		transmembrane protein 168							74.0	77.0	76.0					7																	112424589		2203	4299	6502	SO:0001583	missense	64418	0	0					g.chr7:112424589A>G		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.292T>C	chr7.hg19:g.112424589A>G	ENSP00000323068:p.Trp98Arg	0					TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	p.W98R	NM_022484.4	NP_071929.3	1	2	3	2.000345	Q9H0V1	TM168_HUMAN		2	852	-			A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	1	1	hg19	c.292T>C	CCDS5757.1	1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101989	0.56183	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	T	0.71397	-0.4605	9	0.72032	D	0.01	-11.3609	16.6245	0.84952	1.0:0.0:0.0:0.0	.	98	Q9H0V1	TM168_HUMAN	R	98	.	ENSP00000323068:W98R	W	-	1	0	0	TMEM168	112211825	112211825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.323000	0.78572	0.528000	0.53228	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_022484			34	34		192	188	1		1	1		0	0	77	0		1	9.980145e-01	0	26	0	31	0	34	192
PPP1R3A	5506	broad.mit.edu	37	7	113519452	113519452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	565					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				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						GTTCGCTCAGCAGAGTAGCCA	0.458																																						ENST00000284601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				121						c.(1693-1695)ctG>ctA		protein phosphatase 1, regulatory subunit 3A							116.0	107.0	110.0					7																	113519452		2203	4300	6503	SO:0001819	synonymous_variant	5506	0	0					g.chr7:113519452C>T	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.1695G>A	chr7.hg19:g.113519452C>T		0						p.L565L	NM_002711.3	NP_002702.2	1	2	3	2.000345	Q16821	PPR3A_HUMAN		4	1763	-			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	1	1	hg19	c.1695G>A	CCDS5759.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_002711			70	69		413	408	1		1			0	0	95	0		1	0	0	0	0	0	0	70	413
PPP1R3A	5506	broad.mit.edu	37	7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	488					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				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						GAATGGAAATCTCTTCGTAAA	0.363																																						ENST00000284601.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				121						c.(1462-1464)Gat>Tat		protein phosphatase 1, regulatory subunit 3A							63.0	60.0	61.0					7																	113519685		2203	4299	6502	SO:0001583	missense	5506	0	0					g.chr7:113519685C>A	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.1462G>T	chr7.hg19:g.113519685C>A	ENSP00000284601:p.Asp488Tyr	0						p.D488Y	NM_002711.3	NP_002702.2	1	2	3	2.000345	Q16821	PPR3A_HUMAN		4	1530	-			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	1	1	hg19	c.1462G>T	CCDS5759.1	1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477870	0.26511	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.48836	1.96;0.8	5.24	4.33	0.51752	5.24	4.33	0.51752	.	0.721310	0.12943	N	0.426442	T	0.65439	0.2691	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.55283	-0.8165	10	0.87932	D	0	-2.0215	10.4417	0.44469	0.0:0.9061:0.0:0.0939	.	488	Q16821	PPR3A_HUMAN	Y	488;167	ENSP00000284601:D488Y;ENSP00000401278:D167Y	ENSP00000284601:D488Y	D	-	1	0	0	PPP1R3A	113306921	113306921	0.014000	0.17966	0.154000	0.22540	0.016000	0.09150	1.226000	0.32563	1.144000	0.42321	0.561000	0.74099	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-19.913900	1	0.170000	NM_002711			40	40		217	216	1		1			0	0	42	0		1	0	0	0	0	0	0	40	217
THSD7A	221981	broad.mit.edu	37	7	11415430	11415430	+	Silent	SNP	G	G	A	rs183786782	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1655					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GTTACATGTCGGCATCTCCAT	0.408										HNSCC(18;0.044)			G|||	4	0.000798722	0.0008	0.0029	5008	,	,		15227	0.0		0.001	False		,,,				2504	0.0					ENST00000423059.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.988490	0.990000	1.000000																										0				113						c.(4963-4965)gcC>gcT		thrombospondin, type I, domain containing 7A							161.0	163.0	162.0					7																	11415430		1836	4095	5931	SO:0001819	synonymous_variant	221981	8	120806	44				g.chr7:11415430G>A		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.4965C>T	chr7.hg19:g.11415430G>A		0	HNSCC(18;0.044)				AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA	p.A1655A	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		28	5216	-				Silent	SNP	ENST00000423059.4	1	1	hg19	c.4965C>T	CCDS47543.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	0	0	1		16	2	2	1		1	1	110		110	110	1	2.060000	-2.744762	1	0.170000	XM_928187.2			48	47		449	439	0		1	0		1	0	110	0		9.999898e-01	1.462360e-01	0	0	0	7	0	48	449
PPP1R3A	5506	broad.mit.edu	37	7	113522121	113522121	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	313					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				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						TTTCATTATGTTCATCATGTT	0.383																																						ENST00000284601.3	1.000000	0.530000	9.500000e-01	6.400000e-01	0.780000	0.791037	0.780000	1.000000																										0				121						c.(937-939)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							248.0	199.0	215.0					7																	113522121		2203	4300	6503	SO:0001819	synonymous_variant	5506	0	0					g.chr7:113522121T>C	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.939A>G	chr7.hg19:g.113522121T>C		0						p.E313E	NM_002711.3	NP_002702.2	1	2	3	2.000345	Q16821	PPR3A_HUMAN		3	1007	-			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	1	1	hg19	c.939A>G	CCDS5759.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1		2	2	2	0		0	0	98		98	95	1	2.060000	-7.349473	1	0.170000	NM_002711			31	31		446	442	0		1			0	0	98	0		1	0	0	0	0	0	0	31	446
THSD7A	221981	broad.mit.edu	37	7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1284	TSP type-1 12. {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)				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)		ACAGTTCACAGGGCATTCCAC	0.458										HNSCC(18;0.044)																												ENST00000423059.4	1.000000	0.460000	1	6.600000e-01	0.900000	0.855096	0.900000	1.000000																										0				113						c.(3850-3852)cCt>cAt		thrombospondin, type I, domain containing 7A							75.0	75.0	75.0					7																	11446998		1964	4159	6123	SO:0001583	missense	221981	0	0					g.chr7:11446998G>T		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.3851C>A	chr7.hg19:g.11446998G>T	ENSP00000406482:p.Pro1284His	0	HNSCC(18;0.044)				AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.P1284H	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		20	4102	-				Missense_Mutation	SNP	ENST00000423059.4	0	1	hg19	c.3851C>A	CCDS47543.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869879	0.91587	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62788	-0.0	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.048208	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71581	2.175	0.80722	D	1	D	0.53619	0.961	P	0.57548	0.823	T	0.78804	-0.2060	10	0.87932	D	0	.	19.518	0.95171	0.0:0.0:1.0:0.0	.	1284	Q9UPZ6	THS7A_HUMAN	H	1284	ENSP00000406482:P1284H	ENSP00000262042:P1284H	P	-	2	0	0	THSD7A	11413523	11413523	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.680000	0.98651	2.679000	0.91253	0.585000	0.79938	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-2.880687	1	0.170000	XM_928187.2			10	10		125	119	0		1	0		0	0	24	0		9.965094e-01	8.138490e-02	0	0	0	6	0	10	125
THSD7A	221981	broad.mit.edu	37	7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G	rs372785004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1132	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)				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)		TCTGCTGTATTCTGCATGCAT	0.418										HNSCC(18;0.044)																												ENST00000423059.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999831	0.990000	1.000000																										0				113						c.(3394-3396)Aat>Cat		thrombospondin, type I, domain containing 7A		T	HIS/ASN	0,3760		0,0,1880	98.0	93.0	95.0		3394	5.4	1.0	7		95	1,8217		0,1,4108	no	missense	THSD7A	NM_015204.2	68	0,1,5988	GG,GT,TT		0.0122,0.0,0.0083	probably-damaging	1132/1658	11457220	1,11977	1880	4109	5989	SO:0001583	missense	221981	0	0					g.chr7:11457220T>G		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.3394A>C	chr7.hg19:g.11457220T>G	ENSP00000406482:p.Asn1132His	0	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.N1132H	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		17	3645	-				Missense_Mutation	SNP	ENST00000423059.4	1	1	hg19	c.3394A>C	CCDS47543.1	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213011	0.79352	0.0	1.22E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.76955	-0.2767	10	0.39692	T	0.17	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1132	Q9UPZ6	THS7A_HUMAN	H	1132	ENSP00000406482:N1132H	ENSP00000262042:N1132H	N	-	1	0	0	THSD7A	11423745	11423745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.031000	0.88826	2.038000	0.60285	0.533000	0.62120	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-15.660340	1	0.170000	XM_928187.2			31	31		190	188	1		1	0		0	0	58	0		1	3.221423e-01	0	0	0	8	0	31	190
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000393494.2	+	7	1167	c.888C>A	c.(886-888)tcC>tcA	p.S296S	FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000403559.4_Silent_p.S313S			O15409	FOXP2_HUMAN	forkhead box P2	296				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). {ECO:0000305}.	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)			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						CTAACAATTCCTCCTCGACTA	0.443																																						ENST00000393494.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996625	0.990000	1.000000																										0				52						c.(886-888)tcC>tcA		forkhead box P2							241.0	209.0	220.0					7																	114282577		2203	4300	6503	SO:0001819	synonymous_variant	93986	0	0					g.chr7:114282577C>A	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.888C>A	chr7.hg19:g.114282577C>A		0					FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393489.3_Silent_p.S204S	p.S296S			1	2	3	2.000345	O15409	FOXP2_HUMAN		7	1167	+			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	1	1	hg19	c.888C>A	CCDS5760.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	0	0	1		17	2	2	1		1	1	98		98	97	1	2.060000	-3.318794	1	0.170000	NM_014491			51	49		437	431	1		1	0		1	0	98	0		9.999950e-01	2.878516e-01	0	0	0	10	0	51	437
MDFIC	29969	broad.mit.edu	37	7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A	rs200421830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403																																						ENST00000393486.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(694-696)tgC>tgA		MyoD family inhibitor domain containing							286.0	253.0	264.0					7																	114655944		2203	4300	6503	SO:0001587	stop_gained	29969	0	0					g.chr7:114655944C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.696C>A	chr7.hg19:g.114655944C>A	ENSP00000377126:p.Cys232*	0					MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	p.C232*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	1	2	3	2.000345				5	1286	+				Nonsense_Mutation	SNP	ENST00000393486.1	0	1	hg19	c.696C>A	CCDS55155.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.466091	0.96257	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.64	2.07	0.26955	5.64	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2707	8.9423	0.35738	0.0:0.3193:0.0:0.6807	.	.	.	.	X	341;232	.	ENSP00000257724:C341X	C	+	3	2	2	MDFIC	114443180	114443180	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.336000	0.33850	0.117000	0.18138	-0.471000	0.05019	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	0	0	1		19	5	2	1		1	1	154		154	153	1	2.060000	-20.000000	1	0.170000	NM_199072			160	156		726	712	0		1	1		1	0	154	0		1	9.999995e-01	0	9	0	122	0	160	726
TFEC	22797	broad.mit.edu	37	7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	247					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468																																						ENST00000265440.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(739-741)gTc>gCc		transcription factor EC							124.0	125.0	125.0					7																	115580909		2203	4300	6503	SO:0001583	missense	22797	0	0					g.chr7:115580909A>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.740T>C	chr7.hg19:g.115580909A>G	ENSP00000265440:p.Val247Ala	0					TFEC_ENST00000457268.1_Missense_Mutation_p.V180A|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A	p.V247A	NM_012252.3	NP_036384.1	1	2	3	2.000345	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)	8	920	-			B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	1	1	hg19	c.740T>C	CCDS5762.1	1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042192	0.35989	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64803	-0.12;-0.12;-0.12	5.04	3.86	0.44501	5.04	3.86	0.44501	.	0.308377	0.35378	N	0.003250	T	0.54498	0.1862	L	0.48877	1.53	0.42132	D	0.991472	B;B	0.32302	0.359;0.363	B;B	0.37601	0.108;0.254	T	0.50224	-0.8853	10	0.18710	T	0.47	-0.6008	11.2959	0.49277	0.924:0.0:0.076:0.0	.	218;247	O14948-2;O14948	.;TFEC_HUMAN	A	247;180;218	ENSP00000265440:V247A;ENSP00000387650:V180A;ENSP00000318676:V218A	ENSP00000265440:V247A	V	-	2	0	0	TFEC	115368145	115368145	1.000000	0.71417	0.906000	0.35671	0.899000	0.52679	3.858000	0.55979	2.012000	0.59069	0.528000	0.53228	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	1	0	0		2	2	2	0		0	0	141		141	139	1	2.060000	-20.000000	1	0.170000	NM_012252			96	94		499	487	1		1	0		0	0	141	0		1	9.821280e-01	0	0	0	35	0	96	499
TFEC	22797	broad.mit.edu	37	7	115582018	115582018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	198					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418																																						ENST00000265440.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(592-594)Aga>Cga		transcription factor EC							210.0	202.0	205.0					7																	115582018		2203	4300	6503	SO:0001819	synonymous_variant	22797	0	0					g.chr7:115582018T>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.592A>C	chr7.hg19:g.115582018T>G		0					TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R	p.R198R	NM_012252.3	NP_036384.1	1	2	3	2.000345	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)	7	772	-			B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	1	1	hg19	c.592A>C	CCDS5762.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_012252			148	145		612	593	0		1	0		0	0	117	0		1	9.985213e-01	0	0	0	42	0	148	612
THSD7A	221981	broad.mit.edu	37	7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	449	TSP type-1 4. {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)				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)		GTCTGGTTGCCGCGCCTCTTG	0.557										HNSCC(18;0.044)																												ENST00000423059.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				113						c.(1345-1347)Ggc>Agc		thrombospondin, type I, domain containing 7A							50.0	56.0	54.0					7																	11630195		1994	4165	6159	SO:0001583	missense	221981	1	120918	29				g.chr7:11630195C>T		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.1345G>A	chr7.hg19:g.11630195C>T	ENSP00000406482:p.Gly449Ser	0	HNSCC(18;0.044)					p.G449S	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		4	1596	-				Missense_Mutation	SNP	ENST00000423059.4	1	1	hg19	c.1345G>A	CCDS47543.1	1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132081	0.21041	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57107	0.42	5.8	4.91	0.64330	5.8	4.91	0.64330	.	0.138816	0.64402	D	0.000003	T	0.26846	0.0657	N	0.04297	-0.235	0.47778	D	0.999515	B	0.06786	0.001	B	0.04013	0.001	T	0.16958	-1.0385	10	0.05525	T	0.97	.	14.2875	0.66256	0.0:0.9292:0.0:0.0708	.	449	Q9UPZ6	THS7A_HUMAN	S	449	ENSP00000406482:G449S	ENSP00000262042:G449S	G	-	1	0	0	THSD7A	11596720	11596720	0.771000	0.28555	0.457000	0.27056	0.876000	0.50452	2.212000	0.42835	2.748000	0.94277	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.136340	1	0.170000	XM_928187.2			40	39		196	192	1		1	0		0	0	42	0		1	4.114425e-01	0	0	0	8	0	40	196
THSD7A	221981	broad.mit.edu	37	7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C	rs536193671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	417					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GGACAACTCCATCTCCTTGAG	0.443										HNSCC(18;0.044)																												ENST00000423059.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(1249-1251)gaT>gaG		thrombospondin, type I, domain containing 7A							88.0	84.0	85.0					7																	11632901		1904	4129	6033	SO:0001583	missense	221981	0	0					g.chr7:11632901A>C		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.1251T>G	chr7.hg19:g.11632901A>C	ENSP00000406482:p.Asp417Glu	0	HNSCC(18;0.044)					p.D417E	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		3	1502	-				Missense_Mutation	SNP	ENST00000423059.4	1	1	hg19	c.1251T>G	CCDS47543.1	1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.406718	0.01155	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.41	0.0744	0.14395	5.41	0.0744	0.14395	.	0.089564	0.85682	N	0.000000	T	0.30792	0.0776	N	0.20445	0.575	0.41229	D	0.986567	B	0.02656	0.0	B	0.11329	0.006	T	0.31166	-0.9953	10	0.02654	T	1	.	6.6762	0.23095	0.5439:0.1212:0.3349:0.0	.	417	Q9UPZ6	THS7A_HUMAN	E	417	ENSP00000406482:D417E	ENSP00000262042:D417E	D	-	3	2	2	THSD7A	11599426	11599426	0.000000	0.05858	0.185000	0.23176	0.032000	0.12392	-0.361000	0.07612	-0.210000	0.10140	-0.361000	0.07541	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	XM_928187.2			49	47		178	176	1		1	0		0	0	37	0		1	4.841466e-02	0	0	0	2	0	49	178
TFEC	22797	broad.mit.edu	37	7	115614303	115614303	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115614303T>C	ENST00000265440.7	-	3	368	c.188A>G	c.(187-189)gAc>gGc	p.D63G	TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.D153G	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	63	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCAATAACGTCCTCCATCTA	0.343																																						ENST00000265440.7	1.000000	0.100000	3.900000e-01	1.600000e-01	0.250000	0.307433	0.250000	0.230000																										0				25						c.(187-189)gAc>gGc		transcription factor EC							92.0	88.0	90.0					7																	115614303		2203	4298	6501	SO:0001583	missense	22797	0	0					g.chr7:115614303T>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.188A>G	chr7.hg19:g.115614303T>C	ENSP00000265440:p.Asp63Gly	0					TFEC_ENST00000484212.1_Missense_Mutation_p.D153G|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron	p.D63G	NM_012252.3	NP_036384.1	1	2	3	2.000345	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)	3	368	-			B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	0	1	hg19	c.188A>G	CCDS5762.1	0	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784714	0.49997	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.27890	1.64;1.98	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.287515	0.36740	N	0.002438	T	0.30230	0.0758	L	0.58354	1.805	0.80722	D	1	P;B	0.34662	0.462;0.084	B;B	0.31614	0.133;0.034	T	0.19647	-1.0299	10	0.87932	D	0	-4.0654	12.5214	0.56060	0.0:0.0:0.0:1.0	.	153;63	B7Z757;O14948	.;TFEC_HUMAN	G	63;153	ENSP00000265440:D63G;ENSP00000417432:D153G	ENSP00000265440:D63G	D	-	2	0	0	TFEC	115401539	115401539	0.938000	0.31826	0.999000	0.59377	0.999000	0.98932	4.776000	0.62354	1.705000	0.51264	0.528000	0.53228	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	0	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-7.082512	1	0.170000	NM_012252			6	6		298	296	0		1	0		0	0	44	0		9.646655e-01	8.063528e-02	0	0	0	20	0	6	298
MET	4233	broad.mit.edu	37	7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000318493.6	+	2	539	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000397752.3_Missense_Mutation_p.M118L|MET_ENST00000436117.2_Missense_Mutation_p.M118L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.300000	6.100000e-01	3.800000e-01	0.470000	0.512464	0.470000	0.460000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		0				233						c.(352-354)Atg>Ctg		MET proto-oncogene, receptor tyrosine kinase							125.0	119.0	121.0					7																	116339490		2017	4188	6205	SO:0001583	missense	4233	0	0		Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116339490A>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.352A>C	chr7.hg19:g.116339490A>C	ENSP00000317272:p.Met118Leu	0					MET_ENST00000436117.2_Missense_Mutation_p.M118L|MET_ENST00000397752.3_Missense_Mutation_p.M118L	p.M118L			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	2	539	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	1	1	hg19	c.352A>C	CCDS47689.1	0	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696168	0.30052	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.6	4.45	0.53987	5.6	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222698	0.52532	N	0.000069	T	0.08670	0.0215	M	0.70275	2.135	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.004;0.012;0.012;0.012;0.012;0.012;0.02;0.012;0.014;0.004;0.012;0.006;0.006	T	0.04053	-1.0981	10	0.42905	T	0.14	.	12.7796	0.57469	0.8516:0.1484:0.0:0.0	.	118;118;118;118;118;118;118;118;118;118;118;118;118	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	137;137;118;118;118	ENSP00000413857:M137L;ENSP00000380860:M118L;ENSP00000317272:M118L;ENSP00000410980:M118L	ENSP00000317272:M118L	M	+	1	0	0	MET	116126726	116126726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	1.059000	0.40554	0.533000	0.62120	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	0	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-19.913480	1	0.170000				22	21		534	525	1		1	1		0	0	130	0		9.999985e-01	9.812539e-01	0	21	0	136	0	22	534
MET	4233	broad.mit.edu	37	7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000318493.6	+	2	1071	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000397752.3_Missense_Mutation_p.P295H|MET_ENST00000436117.2_Missense_Mutation_p.P295H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		0				233						c.(883-885)cCt>cAt		MET proto-oncogene, receptor tyrosine kinase							84.0	79.0	81.0					7																	116340022		1844	4092	5936	SO:0001583	missense	4233	0	0		Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116340022C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.884C>A	chr7.hg19:g.116340022C>A	ENSP00000317272:p.Pro295His	0					MET_ENST00000436117.2_Missense_Mutation_p.P295H|MET_ENST00000397752.3_Missense_Mutation_p.P295H	p.P295H			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	2	1071	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	1	1	hg19	c.884C>A	CCDS47689.1	1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10860	2.83;2.83;2.83	6.17	5.29	0.74685	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100208	0.64402	D	0.000001	T	0.42494	0.1205	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;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	0.97110	0.954;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.55029	-0.8204	10	0.72032	D	0.01	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	295;295;295;295;295;295;295;295;295;295;295;295;295	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	H	295	ENSP00000380860:P295H;ENSP00000317272:P295H;ENSP00000410980:P295H	ENSP00000317272:P295H	P	+	2	0	0	MET	116127258	116127258	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.637000	0.67854	1.606000	0.50161	-0.182000	0.12963	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1		2	2	2	0		0	0	119		119	117	1	2.060000	-20.000000	1	0.170000				97	96		437	428	1		1	1		0	0	119	0		1	1	0	54	0	73	0	97	437
MET	4233	broad.mit.edu	37	7	116381004	116381004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000318493.6	+	5	1813	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000397752.3_Silent_p.H542H|MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		0				233						c.(1624-1626)caC>caT		MET proto-oncogene, receptor tyrosine kinase							104.0	109.0	107.0					7																	116381004		1965	4142	6107	SO:0001819	synonymous_variant	4233	2	120870	34	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116381004C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1626C>T	chr7.hg19:g.116381004C>T		0					MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000397752.3_Silent_p.H542H|MET_ENST00000495962.1_3'UTR	p.H542H			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	5	1813	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	1	1	hg19	c.1626C>T	CCDS47689.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-20.000000	1	0.170000				114	111		476	461	0		1	1		0	0	132	0		1	1	0	74	0	142	0	114	476
MET	4233	broad.mit.edu	37	7	116403139	116403139	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000318493.6	+	11	2641	c.2454T>C	c.(2452-2454)tgT>tgC	p.C818C	MET_ENST00000397752.3_Silent_p.C800C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		0				233						c.(2452-2454)tgT>tgC		MET proto-oncogene, receptor tyrosine kinase							101.0	95.0	97.0					7																	116403139		1934	4123	6057	SO:0001819	synonymous_variant	4233	0	0		Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116403139T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2454T>C	chr7.hg19:g.116403139T>C		0					MET_ENST00000397752.3_Silent_p.C800C	p.C818C			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	11	2641	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	1	1	hg19	c.2454T>C	CCDS47689.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000				87	85		360	356	1		1	1		0	0	99	0		1	1	0	87	0	134	0	87	360
MET	4233	broad.mit.edu	37	7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000318493.6	+	14	3131	c.2944C>A	c.(2944-2946)Ctg>Atg	p.L982M	MET_ENST00000397752.3_Missense_Mutation_p.L964M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		5	Deletion - In frame(4)|Unknown(1)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)	lung(5)	233						c.(2944-2946)Ctg>Atg		MET proto-oncogene, receptor tyrosine kinase							62.0	58.0	59.0					7																	116411905		1869	4103	5972	SO:0001583	missense	4233	0	0		Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116411905C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2944C>A	chr7.hg19:g.116411905C>A	ENSP00000317272:p.Leu982Met	0					MET_ENST00000397752.3_Missense_Mutation_p.L964M	p.L982M			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	14	3131	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	1	1	hg19	c.2944C>A	CCDS47689.1	1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672763	0.67928	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.76968	-1.06;-0.91	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.066380	0.64402	D	0.000007	D	0.87297	0.6142	M	0.78916	2.43	0.80722	D	1	D;D	0.63880	0.993;0.959	D;P	0.70227	0.968;0.65	D	0.87240	0.2266	10	0.54805	T	0.06	.	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	982;964	P08581-2;P08581	.;MET_HUMAN	M	964;982	ENSP00000380860:L964M;ENSP00000317272:L982M	ENSP00000317272:L982M	L	+	1	2	2	MET	116199141	116199141	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.423000	0.44705	2.882000	0.98803	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000				34	33		178	172	1		1	1		0	0	46	0		1	1	0	67	0	165	0	34	178
THSD7A	221981	broad.mit.edu	37	7	11676485	11676485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	98	TSP type-1 1. {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)				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)		CCTGCTTACAGTTAGTATGCA	0.512										HNSCC(18;0.044)																												ENST00000423059.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				113						c.(292-294)aaC>aaT		thrombospondin, type I, domain containing 7A							85.0	86.0	85.0					7																	11676485		2038	4193	6231	SO:0001819	synonymous_variant	221981	0	0					g.chr7:11676485G>A		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.294C>T	chr7.hg19:g.11676485G>A		0	HNSCC(18;0.044)				THSD7A_ENST00000480061.1_5'UTR	p.N98N	NM_015204.2	NP_056019.1	1	2	3	2.000345	Q9UPZ6	THS7A_HUMAN		2	545	-				Silent	SNP	ENST00000423059.4	1	1	hg19	c.294C>T	CCDS47543.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	XM_928187.2			77	76		357	347	1		1	0		0	0	105	0		1	1.494667e-01	0	0	0	4	0	77	357
MET	4233	broad.mit.edu	37	7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000318493.6	+	15	3419	c.3232C>T	c.(3232-3234)Cca>Tca	p.P1078S	MET_ENST00000397752.3_Missense_Mutation_p.P1060S|MET_ENST00000539704.1_5'Flank			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000318493.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes	Familial Papillary Renal Cancer		Dom	yes	Familial Papillary Renal Cancer	7	7q31	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)				E	E		papillary renal	papillary renal, head-neck squamous cell 		0				233						c.(3232-3234)Cca>Tca		MET proto-oncogene, receptor tyrosine kinase							188.0	186.0	186.0					7																	116415084		2117	4249	6366	SO:0001583	missense	4233	0	0		Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	g.chr7:116415084C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3232C>T	chr7.hg19:g.116415084C>T	ENSP00000317272:p.Pro1078Ser	0					MET_ENST00000397752.3_Missense_Mutation_p.P1060S|MET_ENST00000539704.1_5'Flank	p.P1078S			1	2	3	2.000345	Q9NWH9	SLTM_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)	15	3419	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	1	1	hg19	c.3232C>T	CCDS47689.1	1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684620	0.68157	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73789	-0.76;-0.78	5.62	5.62	0.85841	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.048031	0.85682	D	0.000000	T	0.80969	0.4726	L	0.43152	1.355	0.80722	D	1	P;D	0.76494	0.453;0.999	B;D	0.74348	0.185;0.983	T	0.79438	-0.1803	10	0.42905	T	0.14	.	14.8095	0.69982	0.1441:0.8559:0.0:0.0	.	1078;1060	P08581-2;P08581	.;MET_HUMAN	S	1060;1078;145	ENSP00000380860:P1060S;ENSP00000317272:P1078S	ENSP00000317272:P1078S	P	+	1	0	0	MET	116202320	116202320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.267000	0.65530	2.795000	0.96236	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000				101	101		499	492	1		1	1		0	0	158	0		1	1	0	72	0	133	0	101	499
WNT2	7472	broad.mit.edu	37	7	116937895	116937895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	208					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547																																						ENST00000265441.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(622-624)tgC>tgT		wingless-type MMTV integration site family member 2							100.0	95.0	97.0					7																	116937895		2203	4300	6503	SO:0001819	synonymous_variant	7472	0	0					g.chr7:116937895G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.624C>T	chr7.hg19:g.116937895G>A		0						p.C208C	NM_003391.2	NP_003382.1	1	2	3	2.000345	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	4	923	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	1	0	hg19	c.624C>T	CCDS5771.1	1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921671	0.33908	.	.	ENSG00000105989	ENST00000491214	T	0.61980	0.06	5.58	-1.85	0.07784	5.58	-1.85	0.07784	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	6	0.02654	T	1	.	12.2951	0.54842	0.4204:0.0:0.5796:0.0	.	.	.	.	S	116	ENSP00000419466:P116S	ENSP00000419466:P116S	P	-	1	0	0	WNT2	116725131	116725131	1.000000	0.71417	0.982000	0.44146	0.506000	0.33950	0.699000	0.25586	-0.144000	0.11314	-0.367000	0.07326	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	0	0	0		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_003391			119	117		569	564	1		1	0		0	0	118	0		1	9.992143e-01	0	0	0	52	0	119	569
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597																																						ENST00000265441.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				31						c.(154-156)cGg>cAg		wingless-type MMTV integration site family member 2							54.0	45.0	48.0					7																	116960776		2203	4300	6503	SO:0001583	missense	7472	0	0					g.chr7:116960776C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	chr7.hg19:g.116960776C>T	ENSP00000265441:p.Arg52Gln	0					AC002465.2_ENST00000436097.1_RNA	p.R52Q	NM_003391.2	NP_003382.1	1	2	3	2.000345	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	2	454	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	1	1	hg19	c.155G>A	CCDS5771.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	0	WNT2	116748012	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000	NM_003391			26	25		115	113	1		1	0		0	0	27	0		1	9.905179e-01	0	0	0	36	0	26	115
CFTR	1080	broad.mit.edu	37	7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A	rs397508669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1362	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)			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)	TCTGTTCTCAGTAAGGCGAAG	0.473									Cystic Fibrosis																													ENST00000003084.6	1.000000	0.510000	8.900000e-01	6.100000e-01	0.730000	0.750704	0.730000	0.720000																										0				69						c.(4084-4086)aGt>aAt		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)						239.0	201.0	214.0					7																	117304863		2203	4300	6503	SO:0001583	missense	1080	1	121412	37	Cystic Fibrosis	Familial Cancer Database	CF	g.chr7:117304863G>A	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.4085G>A	chr7.hg19:g.117304863G>A	ENSP00000003084:p.Ser1362Asn	0					CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	p.S1362N	NM_000492.3	NP_000483.3	1	2	3	2.000345	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)	25	4217	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	1	1	hg19	c.4085G>A	CCDS5773.1	0	.	.	.	.	.	.	.	.	.	.	G	31	5.064717	0.93898	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93547	-3.24;-3.24;-3.24	5.87	5.87	0.94306	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.034897	0.85682	D	0.000000	D	0.93582	0.7951	L	0.31926	0.97	0.80722	D	1	P	0.34743	0.466	P	0.48166	0.569	D	0.91839	0.5482	10	0.46703	T	0.11	-7.325	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1362	P13569	CFTR_HUMAN	N	1362;1301;1332	ENSP00000003084:S1362N;ENSP00000403677:S1301N;ENSP00000389119:S1332N	ENSP00000003084:S1362N	S	+	2	0	0	CFTR	117092099	117092099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.448000	0.80631	2.941000	0.99782	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-7.326837	1	0.170000	NM_000492			33	31		506	502	0		1	1		0	0	135	0		1	9.995778e-01	0	4	0	177	0	33	506
CTTNBP2	83992	broad.mit.edu	37	7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1498					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				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)		TGACAGAGAAGCATTCCTGTT	0.303																																						ENST00000160373.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				83						c.(4492-4494)gCt>gTt		cortactin binding protein 2							165.0	163.0	164.0					7																	117361139		2202	4299	6501	SO:0001583	missense	83992	0	0					g.chr7:117361139G>A		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.4493C>T	chr7.hg19:g.117361139G>A	ENSP00000160373:p.Ala1498Val	0						p.A1498V	NM_033427.2	NP_219499.1	1	2	3	2.000345	Q8WZ74	CTTB2_HUMAN		20	4584	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.4493C>T	CCDS5774.1	1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963163	0.34659	.	.	ENSG00000077063	ENST00000160373	T	0.66460	-0.21	5.21	4.33	0.51752	5.21	4.33	0.51752	.	0.621908	0.16066	N	0.231236	T	0.62660	0.2446	M	0.64404	1.975	0.22500	N	0.999042	B	0.23937	0.094	B	0.16289	0.015	T	0.54990	-0.8210	10	0.41790	T	0.15	-0.4606	12.1834	0.54223	0.0795:0.0:0.9205:0.0	.	1498	Q8WZ74	CTTB2_HUMAN	V	1498	ENSP00000160373:A1498V	ENSP00000160373:A1498V	A	-	2	0	0	CTTNBP2	117148375	117148375	0.898000	0.30612	0.632000	0.29296	0.706000	0.40770	2.807000	0.47955	1.306000	0.44926	0.644000	0.83932	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_033427			60	59		361	356	1		1	0		0	0	76	0		1	1.029242e-01	0	1	0	3	0	60	361
CTTNBP2	83992	broad.mit.edu	37	7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1337					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				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)		CAAGACAGGAAATATTTTGGT	0.498																																						ENST00000160373.3	1.000000	0.790000	1	9.000000e-01	0.990000	0.967083	0.990000	1.000000																										0				83						c.(4009-4011)Ttc>Ctc		cortactin binding protein 2							92.0	98.0	96.0					7																	117368189		2203	4300	6503	SO:0001583	missense	83992	1	121412	36				g.chr7:117368189A>G		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.4009T>C	chr7.hg19:g.117368189A>G	ENSP00000160373:p.Phe1337Leu	0						p.F1337L	NM_033427.2	NP_219499.1	1	2	3	2.000345	Q8WZ74	CTTB2_HUMAN		17	4100	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.4009T>C	CCDS5774.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.142339|5.142339	0.94560|0.94560	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.90444|.	-2.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.044917|0.044917	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.88105|0.88105	2.93|2.93	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	D|D	0.84109|0.84109	0.0400|0.0400	10|6	0.87932|.	D|.	0|.	4.1753|4.1753	15.7672|15.7672	0.78135|0.78135	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337|.	Q8WZ74|.	CTTB2_HUMAN|.	L|S	1337|824	ENSP00000160373:F1337L|.	ENSP00000160373:F1337L|.	F|F	-|-	1|2	0|0	0|0	CTTNBP2|CTTNBP2	117155425|117155425	117155425|117155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.395000|8.395000	0.90188|0.90188	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTC|TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000	NM_033427			56	55		587	576	0		1	0		0	0	122	0		1	1.538653e-01	0	1	0	7	0	56	587
CTTNBP2	83992	broad.mit.edu	37	7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				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)		TTATTGCAAGTCACGTCTTCC	0.453																																						ENST00000160373.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(3106-3108)Act>Cct		cortactin binding protein 2							170.0	150.0	157.0					7																	117400555		2203	4300	6503	SO:0001583	missense	83992	0	0					g.chr7:117400555T>G		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.3106A>C	chr7.hg19:g.117400555T>G	ENSP00000160373:p.Thr1036Pro	0						p.T1036P	NM_033427.2	NP_219499.1	1	2	3	2.000345	Q8WZ74	CTTB2_HUMAN		10	3197	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.3106A>C	CCDS5774.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	10.42|10.42|10.42	1.344691|1.344691|1.344691	0.24426|0.24426|0.24426	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.67171|.	.|-0.25|.	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	.|.|.	.|0.408889|.	.|0.27151|.	.|N|.	.|0.020687|.	T|T|.	0.46171|0.46171|.	0.1379|0.1379|.	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999991|0.999991|0.999991	.|P|.	.|0.47962|.	.|0.903|.	.|B|.	.|0.39876|.	.|0.312|.	T|T|.	0.44620|0.44620|.	-0.9316|-0.9316|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-1.2873|-1.2873|-1.2873	2.3636|2.3636|2.3636	0.04313|0.04313|0.04313	0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057	.|.|.	.|1036|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	A|P|C	523|1036|49;31	.|ENSP00000160373:T1036P|.	.|ENSP00000160373:T1036P|.	D|T|X	-|-|-	2|1|3	0|0|0	0|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187791|117187791|117187791	117187791|117187791|117187791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.014000|0.014000|0.014000	0.15608|0.15608|0.15608	0.026000|0.026000|0.026000	0.11368|0.11368|0.11368	0.797000|0.797000|0.797000	0.26999|0.26999|0.26999	0.138000|0.138000|0.138000	0.18790|0.18790|0.18790	-0.417000|-0.417000|-0.417000	0.06048|0.06048|0.06048	GAC|ACT|TGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	0	0	1		2	2	2	0		0	0	144		144	142	1	2.060000	-20.000000	1	0.170000	NM_033427			104	104		529	515	1		1	0		0	0	144	1		1	5.086534e-01	0	0	0	10	0	104	529
CTTNBP2	83992	broad.mit.edu	37	7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	862					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				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)		TGGTACATAAGAAGCTTGAGG	0.468																																						ENST00000160373.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				83						c.(2584-2586)Ctt>Ttt		cortactin binding protein 2							71.0	72.0	72.0					7																	117417759		2203	4300	6503	SO:0001583	missense	83992	0	0					g.chr7:117417759G>A		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.2584C>T	chr7.hg19:g.117417759G>A	ENSP00000160373:p.Leu862Phe	0						p.L862F	NM_033427.2	NP_219499.1	1	2	3	2.000345	Q8WZ74	CTTB2_HUMAN		8	2675	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.2584C>T	CCDS5774.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027791|4.027791	0.75390|0.75390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.78126|.	-1.15|.	5.46|5.46	4.57|4.57	0.56435|0.56435	5.46|5.46	4.57|4.57	0.56435|0.56435	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.71296|0.71296	2.17|2.17	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73219|0.73219	-0.4052|-0.4052	10|5	0.87932|.	D|.	0|.	-22.5799|-22.5799	14.9195|14.9195	0.70826|0.70826	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	862|.	Q8WZ74|.	CTTB2_HUMAN|.	F|F	862|349	ENSP00000160373:L862F|.	ENSP00000160373:L862F|.	L|S	-|-	1|2	0|0	0|0	CTTNBP2|CTTNBP2	117204995|117204995	117204995|117204995	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.803000|0.803000	0.45373|0.45373	6.945000|6.945000	0.75947|0.75947	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	CTT|TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_033427			45	46		239	233	1		1	0		0	0	62	0		1	2.486902e-01	0	0	0	6	0	45	239
CTTNBP2	83992	broad.mit.edu	37	7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	829					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				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)		GCTTCCAACAAGAGTTTAATA	0.343																																						ENST00000160373.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(2485-2487)Ttg>Atg		cortactin binding protein 2							147.0	148.0	148.0					7																	117420533		2203	4300	6503	SO:0001583	missense	83992	0	0					g.chr7:117420533A>T		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.2485T>A	chr7.hg19:g.117420533A>T	ENSP00000160373:p.Leu829Met	0						p.L829M	NM_033427.2	NP_219499.1	1	2	3	2.000345	Q8WZ74	CTTB2_HUMAN		7	2576	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	1	1	hg19	c.2485T>A	CCDS5774.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.834947|2.834947	0.50951|0.50951	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	T|D	0.69806|0.90004	-0.43|-2.6	5.78|5.78	-2.05|-2.05	0.07321|0.07321	5.78|5.78	-2.05|-2.05	0.07321|0.07321	.|Ankyrin repeat-containing domain (3);	0.063133|0.063133	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.93462|0.93462	0.7914|0.7914	M|M	0.84948|0.84948	2.725|2.725	0.37406|0.37406	D|D	0.913042|0.913042	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93340|0.93340	0.6709|0.6709	8|10	0.66056|0.87932	D|D	0.02|0	-7.1708|-7.1708	12.828|12.828	0.57731|0.57731	0.5502:0.0:0.4498:0.0|0.5502:0.0:0.4498:0.0	.|.	.|829	.|Q8WZ74	.|CTTB2_HUMAN	H|M	316|829	ENSP00000389576:L316H|ENSP00000160373:L829M	ENSP00000389576:L316H|ENSP00000160373:L829M	L|L	-|-	2|1	0|2	0|2	CTTNBP2|CTTNBP2	117207769|117207769	117207769|117207769	0.973000|0.973000	0.33851|0.33851	0.561000|0.561000	0.28357|0.28357	0.450000|0.450000	0.32258|0.32258	0.600000|0.600000	0.24104|0.24104	-0.263000|-0.263000	0.09378|0.09378	-0.290000|-0.290000	0.09829|0.09829	CTT|TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_033427			104	100		542	534	1		1	0		0	0	80	0		1	1.878785e-01	0	0	0	5	0	104	542
NAA38	84316	broad.mit.edu	37	7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000249299.2	+	3	364	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000424702.1_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	100					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368																																						ENST00000249299.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(172-174)Gga>Tga		N(alpha)-acetyltransferase 38, NatC auxiliary subunit							85.0	85.0	85.0					7																	117828431		2203	4300	6503	SO:0001587	stop_gained	84316	0	0					g.chr7:117828431G>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.172G>T	chr7.hg19:g.117828431G>T	ENSP00000249299:p.Gly58*	0					NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*|NAA38_ENST00000424702.1_Nonsense_Mutation_p.G58*	p.G58*	NM_016200.4	NP_057284.1	1	2	3	2.000345	Q9BRA0	LSMD1_HUMAN		3	364	+			Q8N4M0	Nonsense_Mutation	SNP	ENST00000249299.2	0	1	hg19	c.172G>T	CCDS5775.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274682	0.80580	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.84	4.97	0.65823	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.22	14.8076	0.69968	0.0688:0.0:0.9312:0.0	.	.	.	.	X	58;58;37;69	.	ENSP00000249299:G58X	G	+	1	0	0	NAA38	117615667	117615667	1.000000	0.71417	0.167000	0.22817	0.953000	0.61014	9.234000	0.95347	1.480000	0.48289	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.008629	1	0.170000	NM_032356			50	50		232	228	0		1	1		0	0	59	0		1	1	0	71	0	171	0	50	232
KCND2	3751	broad.mit.edu	37	7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	201					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCTGTCATCGCGAATGTGGT	0.562																																						ENST00000331113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(601-603)Gcg>Acg		potassium voltage-gated channel, Shal-related subfamily, member 2	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)						103.0	97.0	99.0					7																	119915287		2203	4300	6503	SO:0001583	missense	3751	0	0					g.chr7:119915287G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.601G>A	chr7.hg19:g.119915287G>A	ENSP00000333496:p.Ala201Thr	0						p.A201T	NM_012281.2	NP_036413.1	1	2	3	2.000345	Q9NZV8	KCND2_HUMAN		1	1566	+	all_neural(327;0.117)		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	1	1	hg19	c.601G>A	CCDS5776.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178077	0.38511	.	.	ENSG00000184408	ENST00000331113	D	0.97378	-4.36	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	N	0.21282	0.65	0.58432	D	0.999998	B	0.27732	0.187	B	0.20384	0.029	D	0.90746	0.4653	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	201	Q9NZV8	KCND2_HUMAN	T	201	ENSP00000333496:A201T	.	A	+	1	0	0	KCND2	119702523	119702523	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	3.701000	0.54793	2.641000	0.89580	0.563000	0.77884	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_012281			59	58		266	264	1		1	0		0	0	59	0		1	4.459537e-01	0	0	0	8	0	59	266
KCND2	3751	broad.mit.edu	37	7	119915676	119915676	+	Silent	SNP	G	G	A	rs367633670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGCTTTTCTCGCTCACCATGG	0.502																																						ENST00000331113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				75						c.(988-990)tcG>tcA		potassium voltage-gated channel, Shal-related subfamily, member 2	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)						158.0	119.0	132.0					7																	119915676		2203	4300	6503	SO:0001819	synonymous_variant	3751	1	121412	36				g.chr7:119915676G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.990G>A	chr7.hg19:g.119915676G>A		0						p.S330S	NM_012281.2	NP_036413.1	1	2	3	2.000345	Q9NZV8	KCND2_HUMAN		1	1955	+	all_neural(327;0.117)		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	1	1	hg19	c.990G>A	CCDS5776.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_012281			98	98		421	408	1		1	0		0	0	85	0		1	7.720045e-01	0	0	0	14	0	98	421
PTPRZ1	5803	broad.mit.edu	37	7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000393386.2	+	2	513	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	34					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)			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						AACTTGTTGAAGAGATTGGCT	0.274																																						ENST00000393386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(100-102)gaA>gaC		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							103.0	125.0	117.0					7																	121568253		2202	4296	6498	SO:0001583	missense	5803	0	0					g.chr7:121568253A>C	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.102A>C	chr7.hg19:g.121568253A>C	ENSP00000377047:p.Glu34Asp	0					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	1	2	3	2.000345	P23471	PTPRZ_HUMAN		2	513	+			A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	1	1	hg19	c.102A>C	CCDS34740.1	1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950785	0.53186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48836	0.82;0.8	5.84	3.49	0.39957	5.84	3.49	0.39957	.	0.000000	0.64402	D	0.000007	T	0.51839	0.1698	L	0.29908	0.895	0.25239	N	0.989767	D;D	0.76494	0.994;0.999	D;D	0.78314	0.97;0.991	T	0.39078	-0.9631	10	0.49607	T	0.09	.	8.349	0.32290	0.8468:0.0:0.1532:0.0	.	34;34	C9JFM0;P23471	.;PTPRZ_HUMAN	D	34	ENSP00000377047:E34D;ENSP00000410000:E34D	ENSP00000377047:E34D	E	+	3	2	2	PTPRZ1	121355489	121355489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	0.480000	0.27534	-0.250000	0.11733	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	1		2	2	2	0		0	0	179		179	174	1	2.060000	-20.000000	1	0.170000	NM_002851			129	126		673	664	1		1			0	0	179	0		1	0	0	0	0	0	0	129	673
PTPRZ1	5803	broad.mit.edu	37	7	121652806	121652806	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000393386.2	+	12	4117	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1236					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)			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						TGAAAACATGCTGCACTCTAC	0.388																																						ENST00000393386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(3706-3708)Ctg>Ttg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							159.0	159.0	159.0					7																	121652806		2203	4300	6503	SO:0001819	synonymous_variant	5803	0	0					g.chr7:121652806C>T	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.3706C>T	chr7.hg19:g.121652806C>T		0					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.L1236L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	1	2	3	2.000345	P23471	PTPRZ_HUMAN		12	4117	+			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	1	1	hg19	c.3706C>T	CCDS34740.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	1		2	2	2	0		0	0	146		146	144	1	2.060000	-20.000000	1	0.170000	NM_002851			165	163		722	709	0		1	0		0	0	146	0		1	0	0	0	0	1	0	165	722
PTPRZ1	5803	broad.mit.edu	37	7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G	rs201869096		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000393386.2	+	13	5302	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1631					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)			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						AGCTGAGGGGTTGGAATCCGA	0.438																																						ENST00000393386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				106						c.(4891-4893)Ttg>Gtg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							207.0	184.0	192.0					7																	121659225		2203	4300	6503	SO:0001583	missense	5803	0	0					g.chr7:121659225T>G	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.4891T>G	chr7.hg19:g.121659225T>G	ENSP00000377047:p.Leu1631Val	0					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	p.L1631V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	1	2	3	2.000345	P23471	PTPRZ_HUMAN		13	5302	+			A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	1	1	hg19	c.4891T>G	CCDS34740.1	1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450921	0.26074	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75589	0.81;-0.95	5.37	-5.41	0.02648	5.37	-5.41	0.02648	.	0.000000	0.53938	D	0.000053	T	0.67850	0.2937	M	0.66939	2.045	0.23198	N	0.998139	B;B;P	0.40360	0.1;0.067;0.714	B;B;B	0.37198	0.084;0.018;0.243	T	0.62353	-0.6872	10	0.54805	T	0.06	.	16.7431	0.85465	0.0:0.5728:0.0:0.4272	.	770;771;1631	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1631;771	ENSP00000377047:L1631V;ENSP00000410000:L771V	ENSP00000377047:L1631V	L	+	1	2	2	PTPRZ1	121446461	121446461	0.681000	0.27614	0.383000	0.26132	0.982000	0.71751	-0.257000	0.08745	-1.949000	0.01031	-1.463000	0.01021	TTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_002851			57	57		297	291	1		1	0		0	0	59	0		1	2.692538e-02	0	0	0	2	0	57	297
AASS	10157	broad.mit.edu	37	7	121726195	121726195	+	Silent	SNP	G	G	A	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000417368.2_Silent_p.A685A|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	685	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)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGACGTAACGGCATCAAGAA	0.423																																						ENST00000393376.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2053-2055)gcC>gcT		aminoadipate-semialdehyde synthase		G		4,4402	8.1+/-20.4	0,4,2199	72.0	69.0	70.0		2055	-12.2	0.0	7	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AASS	NM_005763.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		685/927	121726195	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10157	13	121382	40				g.chr7:121726195G>A	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.2055C>T	chr7.hg19:g.121726195G>A		0					AASS_ENST00000417368.2_Silent_p.A685A|AASS_ENST00000473553.1_5'UTR	p.A685A			1	2	3	2.000345	Q9UDR5	AASS_HUMAN		18	2150	-			O95462	Silent	SNP	ENST00000393376.1	1	1	hg19	c.2055C>T	CCDS5783.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.363870	1	0.170000	NM_005763			34	33		139	133	1		1	0		0	0	39	0		1	9.058501e-01	0	1	0	18	0	34	139
AASS	10157	broad.mit.edu	37	7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000417368.2_Missense_Mutation_p.G521V|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	521	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)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATATTTCTTGCCTAACTGTTC	0.323																																						ENST00000393376.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1561-1563)gGc>gTc		aminoadipate-semialdehyde synthase							102.0	98.0	100.0					7																	121738597		2203	4300	6503	SO:0001583	missense	10157	0	0					g.chr7:121738597C>A	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.1562G>T	chr7.hg19:g.121738597C>A	ENSP00000377040:p.Gly521Val	0					AASS_ENST00000417368.2_Missense_Mutation_p.G521V|AASS_ENST00000473553.1_5'UTR	p.G521V			1	2	3	2.000345	Q9UDR5	AASS_HUMAN		14	1657	-			O95462	Missense_Mutation	SNP	ENST00000393376.1	1	1	hg19	c.1562G>T	CCDS5783.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804224	0.31869	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.97	4.13	0.48395	5.97	4.13	0.48395	NAD(P)-binding domain (1);	0.791425	0.12271	N	0.483813	T	0.12561	0.0305	N	0.01091	-1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.12156	0.007	T	0.07558	-1.0766	10	0.59425	D	0.04	0.2893	4.3102	0.10967	0.1252:0.5612:0.2255:0.0881	.	521	Q9UDR5	AASS_HUMAN	V	521	ENSP00000377040:G521V;ENSP00000403768:G521V	ENSP00000351834:G521V	G	-	2	0	0	AASS	121525833	121525833	0.080000	0.21391	0.129000	0.21949	0.926000	0.56050	2.831000	0.48144	1.533000	0.49186	0.585000	0.79938	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_005763			36	36		137	135	1		1	0		0	0	38	0		1	7.851533e-01	0	1	0	12	0	36	137
AASS	10157	broad.mit.edu	37	7	121753177	121753177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121753177C>A	ENST00000393376.1	-	10	1368	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	425	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTACCATTTCTTCAACATAA	0.398																																						ENST00000393376.1	1.000000	0.220000	7.300000e-01	3.300000e-01	0.500000	0.538428	0.500000	0.460000																										0				54						c.(1273-1275)Gaa>Taa		aminoadipate-semialdehyde synthase							98.0	84.0	89.0					7																	121753177		2203	4300	6503	SO:0001587	stop_gained	10157	0	0					g.chr7:121753177C>A	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.1273G>T	chr7.hg19:g.121753177C>A	ENSP00000377040:p.Glu425*	0					AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*|AASS_ENST00000473553.1_Intron	p.E425*			1	2	3	2.000345	Q9UDR5	AASS_HUMAN		10	1368	-			O95462	Nonsense_Mutation	SNP	ENST00000393376.1	0	1	hg19	c.1273G>T	CCDS5783.1	0	.	.	.	.	.	.	.	.	.	.	C	38	7.109776	0.98070	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.046196	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-23.8767	19.4992	0.95086	0.0:1.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000351834:E425X	E	-	1	0	0	AASS	121540413	121540413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.689000	0.91719	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	0	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-9.384573	1	0.170000	NM_005763			7	6		171	169	0		1	0		0	0	45	0		9.800744e-01	1.917569e-01	0	0	0	18	0	7	171
AASS	10157	broad.mit.edu	37	7	121769556	121769556	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000417368.2_Silent_p.D82D|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	82	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTCAGAAATATCCTCCTGAA	0.343																																						ENST00000393376.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(244-246)gaT>gaC		aminoadipate-semialdehyde synthase							62.0	66.0	65.0					7																	121769556		2203	4300	6503	SO:0001819	synonymous_variant	10157	0	0					g.chr7:121769556A>G	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.246T>C	chr7.hg19:g.121769556A>G		0					AASS_ENST00000417368.2_Silent_p.D82D|AASS_ENST00000473553.1_Intron	p.D82D			1	2	3	2.000345	Q9UDR5	AASS_HUMAN		2	341	-			O95462	Silent	SNP	ENST00000393376.1	1	1	hg19	c.246T>C	CCDS5783.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_005763			48	47		238	232	0		1	1		0	0	83	0		1	7.737869e-01	0	5	0	11	0	48	238
FEZF1	389549	broad.mit.edu	37	7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	87					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)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687																																						ENST00000442488.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				25						c.(259-261)aAg>aGg		FEZ family zinc finger 1							35.0	32.0	33.0					7																	121944232		2202	4299	6501	SO:0001583	missense	389549	0	0					g.chr7:121944232T>C	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.260A>G	chr7.hg19:g.121944232T>C	ENSP00000411145:p.Lys87Arg	0					FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R	p.K87R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	1	2	3	2.000345	A0PJY2	FEZF1_HUMAN		1	327	-			A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	1	1	hg19	c.260A>G	CCDS34741.2	1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492179	0.44352	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.11277	2.88;3.0;2.79	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.052252	0.85682	D	0.000000	T	0.11580	0.0282	L	0.47016	1.485	0.36552	D	0.871937	B;B	0.30146	0.176;0.27	B;B	0.25291	0.026;0.059	T	0.10019	-1.0648	10	0.72032	D	0.01	-15.3977	13.6885	0.62531	0.0:0.0:0.0:1.0	.	87;87	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	87	ENSP00000411145:K87R;ENSP00000332777:K87R;ENSP00000392727:K87R	ENSP00000332777:K87R	K	-	2	0	0	FEZF1	121731468	121731468	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.049000	0.64244	2.069000	0.61940	0.454000	0.30748	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	1	0	0		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_001024613			35	34		190	185	0		1			0	0	48	0		1	0	0	0	0	0	0	35	190
FEZF1	389549	broad.mit.edu	37	7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	71					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)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677																																						ENST00000442488.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(211-213)Atc>Gtc		FEZ family zinc finger 1							94.0	83.0	87.0					7																	121944281		2203	4300	6503	SO:0001583	missense	389549	0	0					g.chr7:121944281T>C	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.211A>G	chr7.hg19:g.121944281T>C	ENSP00000411145:p.Ile71Val	0					FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V	p.I71V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	1	2	3	2.000345	A0PJY2	FEZF1_HUMAN		1	278	-			A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	1	1	hg19	c.211A>G	CCDS34741.2	1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569433	0.28003	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.16;3.28;3.1	4.65	3.47	0.39725	4.65	3.47	0.39725	.	0.116516	0.64402	D	0.000017	T	0.08223	0.0205	L	0.36672	1.1	0.31931	N	0.612159	B;B	0.29432	0.158;0.244	B;B	0.31547	0.042;0.132	T	0.05582	-1.0876	10	0.45353	T	0.12	-18.4477	11.2114	0.48802	0.0:0.0:0.2913:0.7087	.	71;71	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	71	ENSP00000411145:I71V;ENSP00000332777:I71V;ENSP00000392727:I71V	ENSP00000332777:I71V	I	-	1	0	0	FEZF1	121731517	121731517	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	1.097000	0.30988	0.883000	0.36040	-0.478000	0.04885	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_001024613			63	61		361	353	1		1	0		0	0	95	0		1	0	0	0	0	1	0	63	361
CADPS2	93664	broad.mit.edu	37	7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000449022.2	-	15	2217	c.2198T>C	c.(2197-2199)aTt>aCt	p.I733T	CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	733					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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284																																						ENST00000449022.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999842	0.990000	1.000000																										0				43						c.(2197-2199)aTt>aCt		Ca++-dependent secretion activator 2							33.0	32.0	33.0					7																	122091518		1786	4042	5828	SO:0001583	missense	93664	0	0					g.chr7:122091518A>G		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.2198T>C	chr7.hg19:g.122091518A>G	ENSP00000398481:p.Ile733Thr	0					CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T	p.I733T	NM_017954.10	NP_060424.9	1	2	3	2.000345	Q86UW7	CAPS2_HUMAN		15	2217	-			A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	1	1	hg19	c.2198T>C	CCDS55158.1	1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017449	0.54576	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.057162	0.64402	D	0.000002	T	0.46229	0.1382	M	0.62723	1.935	0.51767	D	0.99993	P;P;P;P	0.44521	0.704;0.837;0.704;0.557	B;P;B;B	0.47044	0.139;0.535;0.139;0.107	T	0.50406	-0.8832	10	0.87932	D	0	-17.753	15.5048	0.75728	1.0:0.0:0.0:0.0	.	733;730;733;730	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.;.;CAPS2_HUMAN;.	T	730;734;734;697;730;733	ENSP00000325581:I730T;ENSP00000333940:I734T;ENSP00000400401:I730T;ENSP00000398481:I733T	ENSP00000325581:I730T	I	-	2	0	0	CADPS2	121878754	121878754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.464000	0.73534	2.063000	0.61619	0.477000	0.44152	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_017954			22	22		114	112	1		1	1		0	0	23	0		9.999992e-01	9.999592e-01	0	16	0	75	0	22	114
RNF148	378925	broad.mit.edu	37	7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000434824.1	-	1	313	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423																																						ENST00000434824.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998719	0.990000	1.000000																										0				16						c.(97-99)Aac>Cac		ring finger protein 148							67.0	58.0	61.0					7																	122342708		1868	4104	5972	SO:0001583	missense	378925	0	0					g.chr7:122342708T>G	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.97A>C	chr7.hg19:g.122342708T>G	ENSP00000388207:p.Asn33His	0					CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	p.N33H	NM_198085.1	NP_932351.1	1	2	3	2.000345	Q8N7C7	RN148_HUMAN		1	313	-			A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	0	1	hg19	c.97A>C	CCDS47692.1	1	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484386	0.12641	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.03	0.46877	5.4	4.03	0.46877	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;P	0.35600	0.412;0.511	B;B	0.31751	0.128;0.135	T	0.53330	-0.8454	9	0.45353	T	0.12	.	2.4256	0.04459	0.1502:0.0928:0.1556:0.6014	.	33;33	C9JVJ0;Q8N7C7	.;RN148_HUMAN	H	33	ENSP00000388207:N33H	ENSP00000388207:N33H	N	-	1	0	0	RNF148	122129944	122129944	0.037000	0.19845	0.976000	0.42696	0.468000	0.32798	1.444000	0.35068	2.044000	0.60594	0.454000	0.30748	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_198085			22	20		142	138	1		1			0	0	21	0		9.999989e-01	0	0	0	0	0	0	22	142
TAS2R16	50833	broad.mit.edu	37	7	122635033	122635033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635033A>G	ENST00000249284.2	-	1	721	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	219					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)			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						GCGCGCTTTCATGCTTGGATT	0.443																																						ENST00000249284.2	1.000000	0.120000	3.600000e-01	1.800000e-01	0.250000	0.304198	0.250000	0.250000																										0				31						c.(655-657)aTg>aCg		taste receptor, type 2, member 16							156.0	129.0	138.0					7																	122635033		2203	4300	6503	SO:0001583	missense	50833	0	0					g.chr7:122635033A>G	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.656T>C	chr7.hg19:g.122635033A>G	ENSP00000249284:p.Met219Thr	0						p.M219T	NM_016945.2	NP_058641.1	1	2	3	2.000345	Q9NYV7	T2R16_HUMAN		1	721	-			A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	0	1	hg19	c.656T>C	CCDS5785.1	0	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.652907	0.00785	.	.	ENSG00000128519	ENST00000249284	T	0.00628	6.11	4.46	-1.31	0.09230	4.46	-1.31	0.09230	.	0.944392	0.08725	N	0.902914	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.18871	0.023	T	0.44877	-0.9299	10	0.02654	T	1	.	0.9905	0.01455	0.4151:0.1669:0.095:0.323	.	219	Q9NYV7	T2R16_HUMAN	T	219	ENSP00000249284:M219T	ENSP00000249284:M219T	M	-	2	0	0	TAS2R16	122422269	122422269	0.000000	0.05858	0.035000	0.18076	0.126000	0.20510	-0.296000	0.08287	-0.286000	0.09076	-0.316000	0.08728	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	0	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-8.966918	1	0.170000	NM_016945			10	10		478	472	0		1			0	0	94	0		9.967423e-01	0	0	0	0	0	0	10	478
TAS2R16	50833	broad.mit.edu	37	7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	143					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)			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						AATAGCTGAAGGGATGATTGT	0.388																																						ENST00000249284.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(427-429)cCt>cAt		taste receptor, type 2, member 16							140.0	135.0	136.0					7																	122635261		2203	4300	6503	SO:0001583	missense	50833	0	0					g.chr7:122635261G>T	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.428C>A	chr7.hg19:g.122635261G>T	ENSP00000249284:p.Pro143His	0						p.P143H	NM_016945.2	NP_058641.1	1	2	3	2.000345	Q9NYV7	T2R16_HUMAN		1	493	-			A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	1	1	hg19	c.428C>A	CCDS5785.1	1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486645	0.44249	.	.	ENSG00000128519	ENST00000249284	T	0.00784	5.7	4.56	0.235	0.15431	4.56	0.235	0.15431	.	0.351880	0.24909	N	0.034633	T	0.02380	0.0073	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.40040	-0.9584	10	0.59425	D	0.04	.	4.2625	0.10747	0.246:0.0:0.5736:0.1804	.	143	Q9NYV7	T2R16_HUMAN	H	143	ENSP00000249284:P143H	ENSP00000249284:P143H	P	-	2	0	0	TAS2R16	122422497	122422497	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.035000	0.12205	-0.073000	0.12842	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-2.531568	1	0.170000	NM_016945			58	58		311	307	1		1			0	0	71	0		1	0	0	0	0	0	0	58	311
TAS2R16	50833	broad.mit.edu	37	7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G	rs543103403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	104					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)			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						ACCTTGATGCAGTAGAACACG	0.373																																						ENST00000249284.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(310-312)Tgc>Cgc		taste receptor, type 2, member 16							78.0	77.0	77.0					7																	122635379		2203	4300	6503	SO:0001583	missense	50833	0	0					g.chr7:122635379A>G	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.310T>C	chr7.hg19:g.122635379A>G	ENSP00000249284:p.Cys104Arg	0						p.C104R	NM_016945.2	NP_058641.1	1	2	3	2.000345	Q9NYV7	T2R16_HUMAN		1	375	-			A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	1	1	hg19	c.310T>C	CCDS5785.1	1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049427	0.36181	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.062957	0.64402	D	0.000007	T	0.62901	0.2466	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69213	-0.5204	10	0.87932	D	0	.	10.0659	0.42303	1.0:0.0:0.0:0.0	.	104	Q9NYV7	T2R16_HUMAN	R	104	ENSP00000249284:C104R	ENSP00000249284:C104R	C	-	1	0	0	TAS2R16	122422615	122422615	0.991000	0.36638	1.000000	0.80357	0.113000	0.19764	3.260000	0.51523	1.948000	0.56530	0.533000	0.62120	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-19.999630	1	0.170000	NM_016945			45	45		237	235	1		1			0	0	64	0		1	0	0	0	0	0	0	45	237
SLC13A1	6561	broad.mit.edu	37	7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	433					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			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)	TGGCTATATCCCAGGGCATGA	0.378																																						ENST00000194130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1297-1299)tgG>tgA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						138.0	137.0	137.0					7																	122763231		2203	4300	6503	SO:0001587	stop_gained	6561	0	0					g.chr7:122763231C>T		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.1299G>A	chr7.hg19:g.122763231C>T	ENSP00000194130:p.Trp433*	0					SLC13A1_ENST00000539873.1_3'UTR	p.W433*	NM_022444.3	NP_071889.2	1	2	3	2.000345	Q9BZW2	S13A1_HUMAN		12	1338	-			Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	0	1	hg19	c.1299G>A	CCDS5786.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.582130	0.97680	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.118903	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	.	.	.	X	433	.	ENSP00000194130:W433X	W	-	3	0	0	SLC13A1	122550467	122550467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.728000	0.93425	0.591000	0.81541	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-2.745933	1	0.170000	NM_022444			63	63		298	292	1		1			0	0	115	0		1	0	0	0	0	0	0	63	298
SLC13A1	6561	broad.mit.edu	37	7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T	rs201362717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	237					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			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)	CGTAAGTTTACGTGTCACGTG	0.403																																						ENST00000194130.2	1.000000	0.690000	1	9.400000e-01	0.990000	0.968771	0.990000	1.000000																										0				45						c.(709-711)cGt>cAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C	HIS/ARG	0,4406		0,0,2203	236.0	181.0	200.0		710	5.0	1.0	7		200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC13A1	NM_022444.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/596	122787315	1,13005	2203	4300	6503	SO:0001583	missense	6561	10	121370	41				g.chr7:122787315C>T		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.710G>A	chr7.hg19:g.122787315C>T	ENSP00000194130:p.Arg237His	0					SLC13A1_ENST00000539873.1_3'UTR	p.R237H	NM_022444.3	NP_071889.2	1	2	3	2.000345	Q9BZW2	S13A1_HUMAN		7	749	-			Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	1	1	hg19	c.710G>A	CCDS5786.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588357	0.28357	0.0	1.16E-4	ENSG00000081800	ENST00000194130	T	0.02890	4.12	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.047420	0.85682	D	0.000000	T	0.03390	0.0098	L	0.33339	1.005	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.15870	0.014;0.014	T	0.53429	-0.8440	10	0.31617	T	0.26	-12.2015	15.81	0.78552	0.0:1.0:0.0:0.0	.	237;237	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	237	ENSP00000194130:R237H	ENSP00000194130:R237H	R	-	2	0	0	SLC13A1	122574551	122574551	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.920000	0.63390	2.337000	0.79520	0.563000	0.77884	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-18.392580	1	0.170000	NM_022444			12	10		103	103	0		1			0	0	29	0		9.992060e-01	0	0	0	0	0	0	12	103
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	C	T	rs371912901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388																																						ENST00000466202.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(274-276)ccG>ccA		IQ motif and ubiquitin domain containing		C		0,4406		0,0,2203	216.0	185.0	196.0		276	-0.1	0.0	7		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IQUB	NM_178827.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		92/792	123152119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	154865	4	121410	39				g.chr7:123152119C>T	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.276G>A	chr7.hg19:g.123152119C>T		0					IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	p.P92P	NM_001282855.1	NP_001269784.1	1	2	3	2.000345	Q8NA54	IQUB_HUMAN		2	852	-			A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	1	1	hg19	c.276G>A	CCDS5787.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	1	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_178827			85	85		433	424	1		1	0		0	0	136	0		1	1.308330e-01	0	0	0	3	0	85	433
ASB15	142685	broad.mit.edu	37	7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	336					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433																																						ENST00000451558.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1006-1008)aCt>aTt		ankyrin repeat and SOCS box containing 15							184.0	168.0	173.0					7																	123269055		2203	4300	6503	SO:0001583	missense	142685	0	0					g.chr7:123269055C>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1007C>T	chr7.hg19:g.123269055C>T	ENSP00000397655:p.Thr336Ile	0					ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I	p.T336I			1	2	3	2.000345	Q8WXK1	ASB15_HUMAN		12	1528	+			Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	1	1	hg19	c.1007C>T	CCDS34742.1	1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254323	0.10185	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	6.17	1.25	0.21368	6.17	1.25	0.21368	Ankyrin repeat-containing domain (4);	0.886714	0.09976	N	0.731572	T	0.05868	0.0153	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37384	-0.9708	10	0.37606	T	0.19	-38.4327	2.7332	0.05233	0.1186:0.4693:0.2298:0.1823	.	336	Q8WXK1	ASB15_HUMAN	I	336;336;336;336;125;336	ENSP00000397655:T336I;ENSP00000390963:T336I;ENSP00000416433:T336I;ENSP00000438643:T336I;ENSP00000275699:T336I	ENSP00000275699:T336I	T	+	2	0	0	ASB15	123056291	123056291	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.211000	0.17474	-0.040000	0.13580	0.655000	0.94253	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-20.000000	1	0.170000				78	76		412	405	1		1			0	0	131	0		1	0	0	0	0	0	0	78	412
ASB15	142685	broad.mit.edu	37	7	123269160	123269160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	ENST00000451558.1	+	12	1633	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	371					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTCCTTCTGGCTGCAGGTGCA	0.473																																						ENST00000451558.1	1.000000	0.250000	6.000000e-01	3.400000e-01	0.450000	0.489117	0.450000	0.430000																										0				12						c.(1111-1113)gCt>gAt		ankyrin repeat and SOCS box containing 15							124.0	109.0	114.0					7																	123269160		2203	4300	6503	SO:0001583	missense	142685	0	0					g.chr7:123269160C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1112C>A	chr7.hg19:g.123269160C>A	ENSP00000397655:p.Ala371Asp	0					ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D	p.A371D			1	2	3	2.000345	Q8WXK1	ASB15_HUMAN		12	1633	+			Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	1	1	hg19	c.1112C>A	CCDS34742.1	0	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788999	0.31685	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	6.06	4.12	0.48240	6.06	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.652169	0.14645	N	0.306969	T	0.40196	0.1107	N	0.02697	-0.525	0.25479	N	0.98776	B	0.26318	0.146	B	0.29176	0.099	T	0.38067	-0.9678	10	0.44086	T	0.13	-12.5825	13.2069	0.59803	0.5448:0.4552:0.0:0.0	.	371	Q8WXK1	ASB15_HUMAN	D	371;371;371;371;160;371	ENSP00000397655:A371D;ENSP00000390963:A371D;ENSP00000416433:A371D;ENSP00000438643:A371D;ENSP00000275699:A371D	ENSP00000275699:A371D	A	+	2	0	0	ASB15	123056396	123056396	0.829000	0.29322	1.000000	0.80357	0.971000	0.66376	0.324000	0.19610	1.496000	0.48567	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	0	0	1		2	2	2	0		0	0	98		98	95	1	2.060000	-4.073674	1	0.170000				14	14		366	360	0		1			0	0	98	0		9.997383e-01	0	0	0	0	0	0	14	366
WASL	8976	broad.mit.edu	37	7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	298	Pro-rich.				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)			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						ggaggaggacctgagttgtgt	0.602																																						ENST00000223023.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(892-894)Ggt>Tgt		Wiskott-Aldrich syndrome-like							46.0	50.0	49.0					7																	123332856		2202	4298	6500	SO:0001583	missense	8976	0	0					g.chr7:123332856C>A	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.892G>T	chr7.hg19:g.123332856C>A	ENSP00000223023:p.Gly298Cys	0						p.G298C	NM_003941.2	NP_003932.3	1	2	3	2.000345	O00401	WASL_HUMAN		9	1224	-			A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	1	1	hg19	c.892G>T	CCDS34743.1	1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556491	0.45487	.	.	ENSG00000106299	ENST00000223023	D	0.90261	-2.64	5.39	5.39	0.77823	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112073	0.64402	D	0.000014	D	0.90903	0.7141	L	0.60455	1.87	0.42982	D	0.994466	D	0.58620	0.983	P	0.46975	0.533	D	0.90559	0.4514	10	0.39692	T	0.17	-2.6205	19.209	0.93747	0.0:1.0:0.0:0.0	.	298	O00401	WASL_HUMAN	C	298	ENSP00000223023:G298C	ENSP00000223023:G298C	G	-	1	0	0	WASL	123120092	123120092	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	4.111000	0.57838	2.528000	0.85240	0.644000	0.83932	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_003941			79	75		375	357	1		1	1		0	0	79	0		1	1	0	39	0	180	0	79	375
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428																																						ENST00000223026.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(328-330)gGa>gTa		hyaluronoglucosaminidase 4							67.0	73.0	71.0					7																	123508656		2203	4300	6503	SO:0001583	missense	23553	0	0					g.chr7:123508656G>T	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.329G>T	chr7.hg19:g.123508656G>T	ENSP00000223026:p.Gly110Val	0					HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	p.G110V	NM_012269.2	NP_036401.2	1	2	3	2.000345	Q2M3T9	HYAL4_HUMAN		3	967	+			D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	1	1	hg19	c.329G>T	CCDS5789.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.56103	0.48;0.48	5.49	5.49	0.81192	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86451	0.1773	9	.	.	.	-35.1934	19.3677	0.94471	0.0:0.0:1.0:0.0	.	110;110	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	110	ENSP00000223026:G110V;ENSP00000417186:G110V	.	G	+	2	0	0	HYAL4	123295892	123295892	1.000000	0.71417	0.960000	0.40013	0.419000	0.31324	9.792000	0.99085	2.582000	0.87167	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-3.213310	1	0.170000	NM_012269			87	84		395	391	1		1			0	0	89	0		1	0	0	0	0	0	0	87	395
HYAL4	23553	broad.mit.edu	37	7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	409					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483																																						ENST00000223026.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1225-1227)gCc>gTc		hyaluronoglucosaminidase 4							128.0	123.0	125.0					7																	123516989		2203	4300	6503	SO:0001583	missense	23553	1	121412	32				g.chr7:123516989C>T	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.1226C>T	chr7.hg19:g.123516989C>T	ENSP00000223026:p.Ala409Val	0					HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	p.A409V	NM_012269.2	NP_036401.2	1	2	3	2.000345	Q2M3T9	HYAL4_HUMAN		5	1864	+			D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	1	1	hg19	c.1226C>T	CCDS5789.1	1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357485	0.11239	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17691	2.26;2.26	5.86	1.63	0.23807	5.86	1.63	0.23807	Epidermal growth factor-like (1);	0.774566	0.12155	N	0.494491	T	0.08268	0.0206	N	0.12887	0.27	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.41928	-0.9481	10	0.13108	T	0.6	0.0162	8.2129	0.31494	0.0:0.5058:0.0:0.4942	.	409	Q2M3T9	HYAL4_HUMAN	V	409	ENSP00000223026:A409V;ENSP00000417186:A409V	ENSP00000223026:A409V	A	+	2	0	0	HYAL4	123304225	123304225	0.000000	0.05858	0.932000	0.37286	0.464000	0.32679	-0.133000	0.10451	0.348000	0.23949	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000	NM_012269			86	84		381	378	1		1			0	0	104	0		1	0	0	0	0	0	0	86	381
POT1	25913	broad.mit.edu	37	7	124464052	124464052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	623			Q -> H (in CMM10; increased telomere intensity signals and telomere fragility). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGTCAAAAATCTGATAGCAAA	0.343																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3	1.000000	0.300000	1	4.600000e-01	0.680000	0.698103	0.680000	1.000000																										0				47						c.(1867-1869)caG>caA		protection of telomeres 1							189.0	163.0	172.0					7																	124464052		2201	4299	6500	SO:0001819	synonymous_variant	25913	0	0					g.chr7:124464052C>T	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1869G>A	chr7.hg19:g.124464052C>T		0					POT1_ENST00000393329.1_Silent_p.Q492Q	p.Q623Q	NM_015450.2	NP_056265.2	1	2	3	2.000345	Q9NUX5	POTE1_HUMAN		19	2467	-			O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	1	1	hg19	c.1869G>A	CCDS5793.1	0	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924143	0.18056	.	.	ENSG00000128513	ENST00000436534	.	.	.	5.95	2.16	0.27623	5.95	2.16	0.27623	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-10.601	7.4549	0.27261	0.0:0.6136:0.0:0.3864	.	.	.	.	N	122	.	.	D	-	1	0	0	POT1	124251288	124251288	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.186000	0.16978	0.862000	0.35528	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-10.919740	1	0.170000				7	7		122	119	1		1	1		0	0	30	0		9.799209e-01	9.852538e-01	0	20	0	117	0	7	122
POT1	25913	broad.mit.edu	37	7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	569					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999243	0.990000	1.000000																										0				47						c.(1705-1707)Cca>Tca		protection of telomeres 1							56.0	56.0	56.0					7																	124465393		2203	4300	6503	SO:0001583	missense	25913	0	0					g.chr7:124465393G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1705C>T	chr7.hg19:g.124465393G>A	ENSP00000350249:p.Pro569Ser	0					POT1_ENST00000393329.1_Missense_Mutation_p.P438S	p.P569S	NM_015450.2	NP_056265.2	1	2	3	2.000345	Q9NUX5	POTE1_HUMAN		18	2303	-			O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	1	1	hg19	c.1705C>T	CCDS5793.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015367|2.015367	0.35511|0.35511	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.46063|.	0.97;0.88|.	5.46|5.46	5.46|5.46	0.80206|0.80206	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.207319|.	0.44902|.	D|.	0.000417|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.52573|0.52573	1.65|1.65	0.39108|0.39108	D|D	0.961418|0.961418	D|.	0.53312|.	0.959|.	P|.	0.46076|.	0.503|.	T|T	0.60556|0.60556	-0.7240|-0.7240	10|5	0.21540|.	T|.	0.41|.	-19.2466|-19.2466	10.2755|10.2755	0.43507|0.43507	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	569|.	Q9NUX5|.	POTE1_HUMAN|.	S|F	569;438|67	ENSP00000350249:P569S;ENSP00000377002:P438S|.	ENSP00000350249:P569S|.	P|S	-|-	1|2	0|0	0|0	POT1|POT1	124252629|124252629	124252629|124252629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	4.430000|4.430000	0.59907|0.59907	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCA|TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	0	0	1		11	8	2	1		1	1	57		57	56	1	2.060000	-3.232446	1	0.170000				23	23		143	142	1		1	1		1	0	57	0		9.903191e-01	9.533983e-01	0	34	0	67	0	23	143
POT1	25913	broad.mit.edu	37	7	124483018	124483018	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				47						c.e13-1		protection of telomeres 1							70.0	63.0	66.0					7																	124483018		2203	4300	6503	SO:0001630	splice_region_variant	25913	0	0					g.chr7:124483018C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1007-1G>T	chr7.hg19:g.124483018C>A		0					POT1_ENST00000393329.1_Splice_Site		NM_015450.2	NP_056265.2	1	2	3	2.000345	Q9NUX5	POTE1_HUMAN		13	1605	-			O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	1	1	hg19		CCDS5793.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863051	0.51482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	.	.	.	5.62	5.62	0.85841	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.207	0.89858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	POT1	124270254	124270254	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	5.582000	0.67477	2.641000	0.89580	0.591000	0.81541	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000		Intron		20	20		89	88	1		1			0	0	25	0		9.999975e-01	0	0	0	0	0	0	20	89
SCIN	85477	broad.mit.edu	37	7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	SCIN_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_Missense_Mutation_p.F408C|AC011891.5_ENST00000437088.1_lincRNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	655	Ca(2+)-dependent actin binding.				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)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCAGATATTTATTTGGATT	0.378																																						ENST00000297029.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999127	0.990000	1.000000																										0				17						c.(1963-1965)tTt>tGt		scinderin							164.0	152.0	156.0					7																	12691470		1844	4091	5935	SO:0001583	missense	85477	0	0					g.chr7:12691470T>G	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.1964T>G	chr7.hg19:g.12691470T>G	ENSP00000297029:p.Phe655Cys	0					AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_Missense_Mutation_p.F408C	p.F655C	NM_001112706.2	NP_001106177.1	1	2	3	2.000345	Q9Y6U3	ADSV_HUMAN		15	2065	+			A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	0	1	hg19	c.1964T>G	CCDS47545.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345147	0.82022	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30182	1.54;1.54;1.54	5.74	5.74	0.90152	5.74	5.74	0.90152	Gelsolin domain (1);	0.099917	0.64402	D	0.000001	T	0.69940	0.3167	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81364	-0.0966	10	0.87932	D	0	-18.8659	16.0395	0.80654	0.0:0.0:0.0:1.0	.	655	Q9Y6U3	ADSV_HUMAN	C	655;408;408	ENSP00000297029:F655C;ENSP00000430997:F408C;ENSP00000390189:F408C	ENSP00000297029:F655C	F	+	2	0	0	SCIN	12657995	12657995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.188000	0.77739	2.188000	0.69820	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999050	1	0.170000	NM_033128			12	12		51	51	1		1	1		0	0	10	0		9.994348e-01	9.999794e-01	0	46	0	54	0	12	51
GRM8	2918	broad.mit.edu	37	7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	194				R -> A (in Ref. 1; AAB72040). {ECO:0000305}.	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)			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)				GGAACCACTCGAGAGAAAAAG	0.488										HNSCC(24;0.065)																												ENST00000339582.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(580-582)Cga>Tga		glutamate receptor, metabotropic 8							143.0	142.0	142.0					7																	126746697		2203	4300	6503	SO:0001587	stop_gained	2918	0	0					g.chr7:126746697G>A		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.580C>T	chr7.hg19:g.126746697G>A	ENSP00000344173:p.Arg194*	0	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR	p.R194*			1	2	3	2.000345	O00222	GRM8_HUMAN		3	1388	-		Prostate(267;0.186)	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	0	1	hg19	c.580C>T	CCDS5794.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.190590	0.98125	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.91	4.02	0.46733	4.91	4.02	0.46733	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6223	0.62144	0.0:0.0:0.8439:0.1561	.	.	.	.	X	194;194;194;194;194;4	.	ENSP00000344173:R194X	R	-	1	2	2	GRM8	126533933	126533933	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.990000	0.88215	1.038000	0.40049	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.691340	1	0.170000				62	61		226	208	1		1	0		0	0	44	0		1	4.777817e-02	0	0	0	2	0	62	226
ZNF800	168850	broad.mit.edu	37	7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	524					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)|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						TTCATAAGTGCAAAGAGGACA	0.363																																						ENST00000393313.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1570-1572)tGc>tAc		zinc finger protein 800							73.0	67.0	69.0					7																	127013819		2203	4300	6503	SO:0001583	missense	168850	0	0					g.chr7:127013819C>T	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.1571G>A	chr7.hg19:g.127013819C>T	ENSP00000376989:p.Cys524Tyr	0					ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000485577.1_5'Flank	p.C524Y			1	2	3	2.000345	Q2TB10	ZN800_HUMAN		5	2162	-			Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	1	1	hg19	c.1571G>A	CCDS5795.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096688	0.56075	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99176	-5.52;-5.52;-5.52	6.07	6.07	0.98685	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	L	0.32530	0.975	0.40964	D	0.984644	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99066	1.0832	8	.	.	.	-12.6818	19.6475	0.95784	0.0:1.0:0.0:0.0	.	427;524	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	524	ENSP00000376989:C524Y;ENSP00000265827:C524Y;ENSP00000376988:C524Y	.	C	-	2	0	0	ZNF800	126801055	126801055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_176814			74	74		354	347	1		1	1		0	0	95	0		1	9.995802e-01	0	11	0	46	0	74	354
ZNF800	168850	broad.mit.edu	37	7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	397					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)|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						AGTATTATTAGGGCCTTTTTC	0.353																																						ENST00000393313.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1189-1191)cCt>cAt		zinc finger protein 800							94.0	101.0	99.0					7																	127014200		2203	4298	6501	SO:0001583	missense	168850	0	0					g.chr7:127014200G>T	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.1190C>A	chr7.hg19:g.127014200G>T	ENSP00000376989:p.Pro397His	0					ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000485577.1_5'Flank	p.P397H			1	2	3	2.000345	Q2TB10	ZN800_HUMAN		5	1781	-			Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	1	1	hg19	c.1190C>A	CCDS5795.1	1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156460	0.21454	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.134805	0.49305	D	0.000150	T	0.11110	0.0271	N	0.08118	0	0.30170	N	0.801362	D;D	0.56746	0.977;0.977	P;P	0.49561	0.615;0.615	T	0.31052	-0.9957	8	.	.	.	-3.818	14.3948	0.67003	0.0:0.1473:0.8527:0.0	.	300;397	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	397	ENSP00000376989:P397H;ENSP00000265827:P397H;ENSP00000376988:P397H	.	P	-	2	0	0	ZNF800	126801436	126801436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.676000	0.46883	2.685000	0.91497	0.650000	0.86243	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-3.076634	1	0.170000	NM_176814			99	99		539	536	1		1	1		0	0	106	0		1	9.916888e-01	0	9	0	33	0	99	539
ZNF800	168850	broad.mit.edu	37	7	127014937	127014937	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000393312.1_Silent_p.D151D|ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	151					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)|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						CAATAGGATTATCAGTCCTCG	0.368																																						ENST00000393313.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(451-453)gaT>gaC		zinc finger protein 800							115.0	110.0	111.0					7																	127014937		2203	4300	6503	SO:0001819	synonymous_variant	168850	0	0					g.chr7:127014937A>G	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.453T>C	chr7.hg19:g.127014937A>G		0					ZNF800_ENST00000393312.1_Silent_p.D151D|ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000485577.1_5'Flank	p.D151D			1	2	3	2.000345	Q2TB10	ZN800_HUMAN		5	1044	-			Q9HBN0	Silent	SNP	ENST00000393313.1	1	1	hg19	c.453T>C	CCDS5795.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	0	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_176814			72	70		388	384	1		1	1		0	0	81	0		1	9.937501e-01	0	8	0	36	0	72	388
GCC1	79571	broad.mit.edu	37	7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	461					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527																																						ENST00000321407.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1381-1383)Gac>Tac		GRIP and coiled-coil domain containing 1							99.0	102.0	101.0					7																	127223015		2203	4300	6503	SO:0001583	missense	79571	0	0					g.chr7:127223015C>A	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.1381G>T	chr7.hg19:g.127223015C>A	ENSP00000318821:p.Asp461Tyr	0					GCC1_ENST00000497650.1_5'UTR	p.D461Y	NM_024523.5	NP_078799.2	1	2	3	2.000345	Q96CN9	GCC1_HUMAN		2	1805	-			Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	1	1	hg19	c.1381G>T	CCDS5796.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582210	0.46006	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.12	2.34	0.29019	5.12	2.34	0.29019	.	0.224065	0.47852	D	0.000209	T	0.10637	0.0260	L	0.29908	0.895	0.40906	D	0.984191	P	0.44195	0.828	B	0.42653	0.394	T	0.09662	-1.0664	10	0.59425	D	0.04	-14.9262	7.7853	0.29089	0.0:0.735:0.0:0.265	.	461	Q96CN9	GCC1_HUMAN	Y	461	ENSP00000318821:D461Y	ENSP00000318821:D461Y	D	-	1	0	0	GCC1	127010251	127010251	0.233000	0.23772	0.980000	0.43619	0.992000	0.81027	0.619000	0.24388	0.278000	0.22164	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_024523			125	122		530	507	1		1	1		0	0	115	0		1	1	0	38	0	71	0	125	530
GCC1	79571	broad.mit.edu	37	7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	252					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(754-756)aAg>aCg		GRIP and coiled-coil domain containing 1							75.0	73.0	74.0					7																	127224482		2203	4300	6503	SO:0001583	missense	79571	0	0					g.chr7:127224482T>G	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.755A>C	chr7.hg19:g.127224482T>G	ENSP00000318821:p.Lys252Thr	0		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K252T	NM_024523.5	NP_078799.2	1	2	3	2.000345	Q96CN9	GCC1_HUMAN		1	1179	-			Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	1	1	hg19	c.755A>C	CCDS5796.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016296	0.75161	.	.	ENSG00000179562	ENST00000321407	T	0.46819	0.86	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.099286	0.64402	D	0.000002	T	0.60183	0.2249	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	P	0.60789	0.879	T	0.60667	-0.7218	10	0.33141	T	0.24	-24.8249	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	252	Q96CN9	GCC1_HUMAN	T	252	ENSP00000318821:K252T	ENSP00000318821:K252T	K	-	2	0	0	GCC1	127011718	127011718	0.992000	0.36948	0.994000	0.49952	0.988000	0.76386	2.219000	0.42899	2.254000	0.74563	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_024523			64	63		343	331	1		1	1		0	0	78	0		1	9.999093e-01	0	17	0	58	0	64	343
GCC1	79571	broad.mit.edu	37	7	127224652	127224652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	195					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(583-585)caG>caA		GRIP and coiled-coil domain containing 1							97.0	106.0	103.0					7																	127224652		2203	4300	6503	SO:0001819	synonymous_variant	79571	0	0					g.chr7:127224652C>T	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.585G>A	chr7.hg19:g.127224652C>T		0		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.Q195Q	NM_024523.5	NP_078799.2	1	2	3	2.000345	Q96CN9	GCC1_HUMAN		1	1009	-			Q9H6N7	Silent	SNP	ENST00000321407.2	1	1	hg19	c.585G>A	CCDS5796.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-3.116489	1	0.170000	NM_024523			121	120		555	540	1		1	1		0	0	118	0		1	9.999999e-01	0	17	0	88	0	121	555
GCC1	79571	broad.mit.edu	37	7	127225162	127225162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	25					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(73-75)aaG>aaA		GRIP and coiled-coil domain containing 1							97.0	101.0	100.0					7																	127225162		2203	4300	6503	SO:0001819	synonymous_variant	79571	1	121412	31				g.chr7:127225162C>T	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.75G>A	chr7.hg19:g.127225162C>T		0		OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K25K	NM_024523.5	NP_078799.2	1	2	3	2.000345	Q96CN9	GCC1_HUMAN		1	499	-			Q9H6N7	Silent	SNP	ENST00000321407.2	1	1	hg19	c.75G>A	CCDS5796.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1		2	2	2	0		0	0	159		159	159	1	2.060000	-20.000000	1	0.170000	NM_024523			133	134		610	603	1		1	1		0	0	159	0		1	9.999862e-01	0	21	0	53	0	133	610
ARF5	381	broad.mit.edu	37	7	127230185	127230185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	108					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542																																						ENST00000000233.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(322-324)caG>caA		ADP-ribosylation factor 5							106.0	108.0	107.0					7																	127230185		2203	4300	6503	SO:0001819	synonymous_variant	381	0	0					g.chr7:127230185G>A		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.324G>A	chr7.hg19:g.127230185G>A		0					GCC1_ENST00000497650.1_Intron	p.Q108Q	NM_001662.3	NP_001653.1	1	2	3	2.000345	P84085	ARF5_HUMAN		4	478	+			P26437	Silent	SNP	ENST00000000233.5	1	1	hg19	c.324G>A	CCDS34745.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_001662			72	70		361	353	0		1	1		0	0	89	0		1	1	0	389	0	1030	0	72	361
FSCN3	29999	broad.mit.edu	37	7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	198						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562																																						ENST00000265825.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(592-594)ttC>ttA		fascin actin-bundling protein 3, testicular							181.0	146.0	158.0					7																	127235810		2203	4300	6503	SO:0001583	missense	29999	0	0					g.chr7:127235810C>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.594C>A	chr7.hg19:g.127235810C>A	ENSP00000265825:p.Phe198Leu	0					FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L|GCC1_ENST00000497650.1_5'Flank	p.F198L	NM_020369.2	NP_065102.1	1	2	3	2.000345	Q9NQT6	FSCN3_HUMAN		2	813	+			A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	1	1	hg19	c.594C>A	CCDS34746.1	1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496496	0.64186	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.52526	1.28;0.66	5.44	1.53	0.23141	5.44	1.53	0.23141	Actin cross-linking (1);	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	L	0.55103	1.725	0.32960	D	0.520866	D;D	0.76494	0.997;0.999	P;P	0.62740	0.906;0.874	T	0.64807	-0.6320	10	0.49607	T	0.09	-32.0539	10.5591	0.45135	0.0:0.6852:0.0:0.3148	.	64;198	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	198;64	ENSP00000265825:F198L;ENSP00000412243:F64L	ENSP00000265825:F198L	F	+	3	2	2	FSCN3	127023046	127023046	0.250000	0.23951	0.911000	0.35937	0.912000	0.54170	0.019000	0.13444	0.088000	0.17205	-0.813000	0.03139	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-3.511185	1	0.170000	NM_020369			82	80		345	336	1		1			0	0	88	0		1	0	0	0	0	0	0	82	345
FSCN3	29999	broad.mit.edu	37	7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	rs144391719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	356						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16483	0.0		0.001	False		,,,				2504	0.0					ENST00000265825.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1066-1068)cGc>cAc		fascin actin-bundling protein 3, testicular		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	109.0	111.0		1067	5.9	1.0	7	dbSNP_134	111	0,8600		0,0,4300	yes	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/499	127238595	1,13005	2203	4300	6503	SO:0001583	missense	29999	15	121410	47				g.chr7:127238595G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1067G>A	chr7.hg19:g.127238595G>A	ENSP00000265825:p.Arg356His	0					FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	p.R356H	NM_020369.2	NP_065102.1	1	2	3	2.000345	Q9NQT6	FSCN3_HUMAN		4	1286	+			A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	1	1	hg19	c.1067G>A	CCDS34746.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.53	2.861201	0.51482	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.51574	1.39;0.7	5.94	5.94	0.96194	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000006	T	0.60051	0.2239	L	0.38531	1.155	0.38031	D	0.935151	B;D	0.89917	0.101;1.0	B;D	0.75484	0.026;0.986	T	0.63242	-0.6681	10	0.66056	D	0.02	-17.9026	15.8634	0.79043	0.0:0.0:1.0:0.0	.	222;356	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	356;222	ENSP00000265825:R356H;ENSP00000412243:R222H	ENSP00000265825:R356H	R	+	2	0	0	FSCN3	127025831	127025831	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	5.008000	0.63991	2.826000	0.97356	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	1	0	1		2	2	2	0		0	0	159		159	158	1	2.060000	-20.000000	1	0.170000	NM_020369			140	135		656	642	1		1			0	0	159	0		1	0	0	0	0	0	0	140	656
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393																																						ENST00000396663.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(550-552)Gat>Aat		ADP-ribosylation factor-like 4A							49.0	50.0	50.0					7																	12728429		2199	4287	6486	SO:0001583	missense	10124	0	0					g.chr7:12728429G>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.550G>A	chr7.hg19:g.12728429G>A	ENSP00000379898:p.Asp184Asn	0					ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N	p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	1	2	3	2.000345	P40617	ARL4A_HUMAN		2	1032	+			A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	1	1	hg19	c.550G>A	CCDS5359.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037124	0.35893	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.58	3.69	0.42338	4.58	3.69	0.42338	.	0.430161	0.24601	N	0.037122	T	0.70193	0.3196	N	0.17379	0.485	0.37735	D	0.92541	P	0.40731	0.728	B	0.43701	0.428	T	0.69558	-0.5113	10	0.02654	T	1	.	12.8581	0.57897	0.0794:0.0:0.9206:0.0	.	184	P40617	ARL4A_HUMAN	N	184	ENSP00000379897:D184N;ENSP00000349250:D184N;ENSP00000379899:D184N;ENSP00000379898:D184N;ENSP00000385236:D184N	ENSP00000349250:D184N	D	+	1	0	0	ARL4A	12694954	12694954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.434000	0.66526	1.273000	0.44346	0.585000	0.79938	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	1	0	1		2	2	2	0		0	0	73		73	88	1	2.060000	-20.000000	1	0.170000	NM_005738			69	67		322	301	0		1	1		0	0	73	0		1	9.999923e-01	0	28	0	54	0	69	322
PAX4	5078	broad.mit.edu	37	7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	57	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)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(145-147)Atc>Gtc		paired box 4							76.0	72.0	74.0					7																	127255125		2203	4300	6503	SO:0001583	missense	5078	0	0					g.chr7:127255125T>C		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.145A>G	chr7.hg19:g.127255125T>C	ENSP00000339906:p.Ile49Val	0					PAX4_ENST00000338516.3_Missense_Mutation_p.I57V|PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V	p.I49V	NM_006193.2	NP_006184.2	1	2	3	2.000345	O43316	PAX4_HUMAN		2	350	-			O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	1	1	hg19	c.145A>G	CCDS5797.1	1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700177	0.88924	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99519	-5.86;-5.86;-6.07	5.73	5.73	0.89815	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.987;0.988;0.999	D;D;D;D	0.91635	0.999;0.983;0.99;0.995	D	0.98442	1.0587	10	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.0:1.0	.	49;47;57;47	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	49;57;57;47	ENSP00000339906:I49V;ENSP00000344297:I57V;ENSP00000451923:I47V	ENSP00000344297:I57V	I	-	1	0	0	PAX4	127042361	127042361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.902000	0.87389	2.175000	0.68902	0.533000	0.62120	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1	1	0	1		2	2	2	0		0	0	107		107	104	1	2.060000	-20.000000	1	0.170000				81	80		369	366	1		1	0		0	0	107	0		1	0	0	0	0	1	0	81	369
LRRC4	64101	broad.mit.edu	37	7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	166					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)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572																																						ENST00000249363.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				26						c.(496-498)Gcc>Acc		leucine rich repeat containing 4							65.0	70.0	69.0					7																	127670198		2203	4300	6503	SO:0001583	missense	64101	0	0					g.chr7:127670198C>T	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.496G>A	chr7.hg19:g.127670198C>T	ENSP00000249363:p.Ala166Thr	0					SND1_ENST00000354725.3_Intron	p.A166T	NM_022143.4	NP_071426.1	1	2	3	2.000345	Q9HBW1	LRRC4_HUMAN		2	753	-			A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	1	1	hg19	c.496G>A	CCDS5799.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412267	0.62511	.	.	ENSG00000128594	ENST00000249363	D	0.92752	-3.1	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.93396	0.7894	L	0.47078	1.49	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.92091	0.5680	10	0.31617	T	0.26	.	14.6035	0.68460	0.0:1.0:0.0:0.0	.	166	Q9HBW1	LRRC4_HUMAN	T	166	ENSP00000249363:A166T	ENSP00000249363:A166T	A	-	1	0	0	LRRC4	127457434	127457434	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.841000	0.69409	2.250000	0.74265	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-19.999960	1	0.170000	NM_022143			65	63		473	466	1		1	0		0	0	113	0		1	4.146505e-02	0	0	0	3	0	65	473
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	C	T	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4. {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)			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						CCAACCTGTCCGTCCTGCTGG	0.617																																						ENST00000354725.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.995213	0.990000	1.000000																										0				41						c.(1855-1857)tcC>tcT		staphylococcal nuclease and tudor domain containing 1		C		0,4406		0,0,2203	105.0	67.0	80.0		1857	-4.7	1.0	7	dbSNP_134	80	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	SND1	NM_014390.2		0,12,6491	TT,TC,CC		0.1395,0.0,0.0923		619/911	127714631	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	27044	107	121396	50				g.chr7:127714631C>T		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.1857C>T	chr7.hg19:g.127714631C>T		0						p.S619S	NM_014390.2	NP_055205.2	1	2	3	2.000345	Q7KZF4	SND1_HUMAN		17	2051	+			Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	1	0	hg19	c.1857C>T	CCDS34747.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.303716	1	0.170000	NM_014390			19	19		136	135	1		1	1		0	0	39	0		9.999934e-01	1	0	99	0	406	0	19	136
SND1	27044	broad.mit.edu	37	7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	780	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597																																						ENST00000354725.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				41						c.(2338-2340)Cta>Ata		staphylococcal nuclease and tudor domain containing 1							130.0	92.0	105.0					7																	127727023		2203	4300	6503	SO:0001583	missense	27044	1	121412	34				g.chr7:127727023C>A		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.2338C>A	chr7.hg19:g.127727023C>A	ENSP00000346762:p.Leu780Ile	0						p.L780I	NM_014390.2	NP_055205.2	1	2	3	2.000345	Q7KZF4	SND1_HUMAN		21	2532	+			Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	1	1	hg19	c.2338C>A	CCDS34747.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378334	0.42207	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.10099	2.91	5.96	2.77	0.32553	5.96	2.77	0.32553	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.194552	0.45126	D	0.000396	T	0.09468	0.0233	L	0.33189	0.99	0.45378	D	0.998361	B	0.21309	0.054	B	0.35727	0.209	T	0.20672	-1.0268	10	0.26408	T	0.33	-7.5627	5.9818	0.19411	0.1567:0.6661:0.0:0.1772	.	780	Q7KZF4	SND1_HUMAN	I	780;770	ENSP00000346762:L780I	ENSP00000346762:L780I	L	+	1	2	2	SND1	127514259	127514259	0.994000	0.37717	0.967000	0.41034	0.808000	0.45660	2.872000	0.48467	0.862000	0.35528	0.655000	0.94253	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-2.842327	1	0.170000	NM_014390			50	49		310	302	1		1	1		0	0	79	0		1	1	0	149	0	567	0	50	310
RBM28	55131	broad.mit.edu	37	7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	677					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542																																						ENST00000223073.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2029-2031)Cga>Tga		RNA binding motif protein 28							157.0	164.0	162.0					7																	127954833		2203	4300	6503	SO:0001587	stop_gained	55131	1	121412	31				g.chr7:127954833G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2029C>T	chr7.hg19:g.127954833G>A	ENSP00000223073:p.Arg677*	0					RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*|RBM28_ENST00000481788.1_5'UTR	p.R677*	NM_018077.2	NP_060547.2	1	2	3	2.000345	Q9NW13	RBM28_HUMAN		17	2143	-			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	0	1	hg19	c.2029C>T	CCDS5801.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.805438	0.98960	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.140158	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-8.5118	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	677;536	.	ENSP00000223073:R677X	R	-	1	2	2	RBM28	127742069	127742069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1		2	2	2	0		0	0	223		223	221	1	2.060000	-2.690405	1	0.170000	NM_018077			159	156		947	917	1		1	1		0	0	223	0		1	9.934115e-01	0	2	0	45	0	159	947
RBM28	55131	broad.mit.edu	37	7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	365	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468																																						ENST00000223073.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1093-1095)Cgc>Tgc		RNA binding motif protein 28							119.0	106.0	111.0					7																	127970908		2203	4300	6503	SO:0001583	missense	55131	1	121412	34				g.chr7:127970908G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1093C>T	chr7.hg19:g.127970908G>A	ENSP00000223073:p.Arg365Cys	0					RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	p.R365C	NM_018077.2	NP_060547.2	1	2	3	2.000345	Q9NW13	RBM28_HUMAN		10	1207	-			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	1	1	hg19	c.1093C>T	CCDS5801.1	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300519	0.40694	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.18810	2.19;2.19	5.52	1.76	0.24704	5.52	1.76	0.24704	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390886	0.25478	N	0.030399	T	0.23846	0.0577	M	0.88310	2.945	0.44289	D	0.997157	B;B	0.33022	0.394;0.044	B;B	0.27796	0.083;0.016	T	0.04229	-1.0967	10	0.54805	T	0.06	-0.0962	3.7697	0.08636	0.3412:0.0:0.4973:0.1615	.	224;365	E9PDD9;Q9NW13	.;RBM28_HUMAN	C	365;224	ENSP00000223073:R365C;ENSP00000390517:R224C	ENSP00000223073:R365C	R	-	1	0	0	RBM28	127758144	127758144	0.962000	0.33011	0.979000	0.43373	0.986000	0.74619	1.934000	0.40163	0.313000	0.23062	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.663192	1	0.170000	NM_018077			71	70		329	320	1		1	1		0	0	84	0		1	9.963854e-01	0	5	0	37	0	71	329
RBM28	55131	broad.mit.edu	37	7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423																																						ENST00000223073.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(922-924)aGc>aAc		RNA binding motif protein 28							114.0	104.0	108.0					7																	127975620		2203	4300	6503	SO:0001583	missense	55131	0	0					g.chr7:127975620C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.923G>A	chr7.hg19:g.127975620C>T	ENSP00000223073:p.Ser308Asn	0					RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	p.S308N	NM_018077.2	NP_060547.2	1	2	3	2.000345	Q9NW13	RBM28_HUMAN		8	1037	-			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	1	1	hg19	c.923G>A	CCDS5801.1	1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216529	0.22373	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.92;2.01;2.13	5.52	1.45	0.22620	5.52	1.45	0.22620	.	0.603956	0.19156	N	0.121337	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.20046	T	0.44	-0.1468	7.9257	0.29872	0.0:0.6765:0.0:0.3235	.	167;308	E9PDD9;Q9NW13	.;RBM28_HUMAN	N	308;167;277	ENSP00000223073:S308N;ENSP00000390517:S167N;ENSP00000418071:S277N	ENSP00000223073:S308N	S	-	2	0	0	RBM28	127762856	127762856	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.157000	0.16402	0.023000	0.15187	0.561000	0.74099	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-20.000000	1	0.170000	NM_018077			59	59		235	228	1		1	1		0	0	59	0		1	9.996457e-01	0	3	0	47	0	59	235
RBM28	55131	broad.mit.edu	37	7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418																																						ENST00000223073.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999898	0.990000	1.000000																										0				21						c.(463-465)Ggt>Agt		RNA binding motif protein 28							100.0	93.0	96.0					7																	127978382		2203	4300	6503	SO:0001583	missense	55131	0	0					g.chr7:127978382C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.463G>A	chr7.hg19:g.127978382C>T	ENSP00000223073:p.Gly155Ser	0					RBM28_ENST00000415472.2_Intron	p.G155S	NM_018077.2	NP_060547.2	1	2	3	2.000345	Q9NW13	RBM28_HUMAN		5	577	-			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	1	1	hg19	c.463G>A	CCDS5801.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.284381	0.95517	.	.	ENSG00000106344	ENST00000223073;ENST00000459726	D;T	0.83419	-1.72;1.69	5.73	5.73	0.89815	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94420	0.7640	10	0.87932	D	0	-14.3256	17.3973	0.87449	0.0:1.0:0.0:0.0	.	155	Q9NW13	RBM28_HUMAN	S	155;189	ENSP00000223073:G155S;ENSP00000420503:G189S	ENSP00000223073:G155S	G	-	1	0	0	RBM28	127765618	127765618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.401000	0.73256	2.712000	0.92718	0.650000	0.86243	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-2.719091	1	0.170000	NM_018077			36	36		225	224	1		1	1		0	0	44	0		1	9.830699e-01	0	12	0	31	0	36	225
IMPDH1	3614	broad.mit.edu	37	7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000480861.1	-	7	703	c.626A>G	c.(625-627)gAt>gGt	p.D209G	IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D299G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTCATCGCAATCATTGACGAT	0.547											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000480861.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(625-627)gAt>gGt		IMP (inosine 5'-monophosphate) dehydrogenase 1							74.0	76.0	75.0					7																	128038646		2203	4300	6503	SO:0001583	missense	3614	0	0					g.chr7:128038646T>C		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.626A>G	chr7.hg19:g.128038646T>C	ENSP00000420185:p.Asp209Gly	0		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D299G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G	p.D209G	NM_001142574.1	NP_001136046.1	1	2	3	2.000345				7	703	-				Missense_Mutation	SNP	ENST00000480861.1	1	1	hg19	c.626A>G	CCDS55161.1	1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786326	0.31593	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.29	5.29	0.74685	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.138458	0.64402	D	0.000004	D	0.89853	0.6835	L	0.50847	1.595	0.48830	D	0.999718	B;B;B;B;B;B;B;B	0.15473	0.005;0.001;0.001;0.001;0.004;0.006;0.013;0.001	B;B;B;B;B;B;B;B	0.21151	0.013;0.021;0.014;0.022;0.033;0.008;0.008;0.012	D	0.86034	0.1515	10	0.51188	T	0.08	-16.798	7.8776	0.29603	0.0:0.0913:0.0:0.9087	.	266;209;214;230;289;263;299;189	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	G	266;299;189;289;230;263;189;213;209;230	ENSP00000399400:D266G;ENSP00000345096:D299G;ENSP00000420803:D189G;ENSP00000346219:D289G;ENSP00000367989:D230G;ENSP00000265385:D263G;ENSP00000342438:D189G;ENSP00000417296:D213G;ENSP00000420185:D209G;ENSP00000419609:D230G	ENSP00000345096:D299G	D	-	2	0	0	IMPDH1	127825882	127825882	1.000000	0.71417	0.752000	0.31206	0.134000	0.20937	4.207000	0.58480	2.016000	0.59253	0.533000	0.62120	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	1	0	1		2	2	2	0		0	0	121		121	119	1	2.060000	-20.000000	1	0.170000	NM_000883			89	87		425	417	1		1	1		0	0	121	0		1	1	0	56	0	99	0	89	425
METTL2B	55798	broad.mit.edu	37	7	128119258	128119258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119258A>C	ENST00000262432.8	+	3	286	c.249A>C	c.(247-249)aaA>aaC	p.K83N	METTL2B_ENST00000480046.1_Missense_Mutation_p.K18N|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTCTACAAAATCCACGAAA	0.328																																						ENST00000262432.8	1.000000	0.170000	5.100000e-01	2.500000e-01	0.350000	0.403008	0.350000	0.340000																										0				17						c.(247-249)aaA>aaC		methyltransferase like 2B							30.0	32.0	32.0					7																	128119258		2192	4274	6466	SO:0001583	missense	55798	0	0					g.chr7:128119258A>C	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.249A>C	chr7.hg19:g.128119258A>C	ENSP00000262432:p.Lys83Asn	0					RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.K18N	p.K83N	NM_018396.2	NP_060866.2	1	2	3	2.000345	Q6P1Q9	MET2B_HUMAN		3	286	+			B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	0	1	hg19	c.249A>C	CCDS5803.2	0	.	.	.	.	.	.	.	.	.	.	A	8.219	0.801985	0.16397	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03951	3.75;3.75;3.75	2.86	1.68	0.24146	2.86	1.68	0.24146	.	0.134389	0.64402	D	0.000003	T	0.09598	0.0236	M	0.86343	2.81	0.27564	N	0.950084	B;B	0.33266	0.404;0.276	B;B	0.39531	0.302;0.142	T	0.10917	-1.0609	10	0.51188	T	0.08	-3.801	3.1863	0.06602	0.6121:0.2465:0.1414:0.0	.	18;83	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	77;83;18	ENSP00000418634:K77N;ENSP00000262432:K83N;ENSP00000418402:K18N	ENSP00000262432:K83N	K	+	3	2	2	METTL2B	127906494	127906494	1.000000	0.71417	0.652000	0.29579	0.643000	0.38383	1.418000	0.34782	0.332000	0.23536	0.333000	0.21579	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	0	0	1		2	2	2	0		0	0	53		53	80	1	2.060000	-10.233440	1	0.170000	NM_018396			9	9		306	250	0		1	1		0	0	53	0		9.868524e-01	3.665458e-01	0	8	0	33	0	9	306
METTL2B	55798	broad.mit.edu	37	7	128119557	128119557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119557G>A	ENST00000262432.8	+	3	585	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	METTL2B_ENST00000480046.1_Missense_Mutation_p.R118Q|METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCACCTACCGAATACTGGAG	0.413																																						ENST00000262432.8	1.000000	0.490000	1	6.200000e-01	0.780000	0.791437	0.780000	1.000000																										0				17						c.(547-549)cGa>cAa		methyltransferase like 2B							67.0	75.0	72.0					7																	128119557		2182	4278	6460	SO:0001583	missense	55798	4	121246	30				g.chr7:128119557G>A	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.548G>A	chr7.hg19:g.128119557G>A	ENSP00000262432:p.Arg183Gln	0					RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000480046.1_Missense_Mutation_p.R118Q	p.R183Q	NM_018396.2	NP_060866.2	1	2	3	2.000345	Q6P1Q9	MET2B_HUMAN		3	585	+			B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	0	1	hg19	c.548G>A	CCDS5803.2	0	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382232	0.61845	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.16743	3.45;2.32;2.32	2.52	1.62	0.23740	2.52	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	M	0.80332	2.49	0.48341	D	0.999634	D;D	0.76494	0.997;0.999	P;D	0.66979	0.875;0.948	T	0.07751	-1.0756	10	0.59425	D	0.04	0.0705	7.4037	0.26979	0.1419:0.0:0.8581:0.0	.	118;183	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	177;183;118	ENSP00000418634:R177Q;ENSP00000262432:R183Q;ENSP00000418402:R118Q	ENSP00000262432:R183Q	R	+	2	0	0	METTL2B	127906793	127906793	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.022000	0.93678	0.407000	0.25591	-1.038000	0.02383	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	0	0	1		2	2	2	0		0	0	58		58	71	1	2.060000	-3.221002	1	0.170000	NM_018396			20	14		288	218	0		1	0		0	0	58	0		9.999402e-01	7.857370e-02	0	0	0	7	0	20	288
CALU	813	broad.mit.edu	37	7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000249364.4	+	3	385	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000449187.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000542996.2_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	95	EF-hand 1. {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)			kidney(2)|large_intestine(3)|lung(5)	10						TGAGCTCAAAGACTGGATTAA	0.448																																						ENST00000249364.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(283-285)Gac>Tac		calumenin							131.0	117.0	122.0					7																	128394377		2203	4300	6503	SO:0001583	missense	813	0	0					g.chr7:128394377G>T	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.283G>T	chr7.hg19:g.128394377G>T	ENSP00000249364:p.Asp95Tyr	0					CALU_ENST00000538546.1_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000542996.2_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000449187.2_Intron	p.D95Y	NM_001219.4	NP_001210.1	1	2	3	2.000345	O43852	CALU_HUMAN		3	385	+			B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	1	1	hg19	c.283G>T	CCDS5805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536564|3.536564	0.65085|0.65085	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000342367|ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.|T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52	6.11|6.11	6.11|6.11	0.99139|0.99139	6.11|6.11	6.11|6.11	0.99139|0.99139	.|EF-hand-like domain (1);	.|0.996520	.|0.08137	.|N	.|0.992275	.|T	.|0.77089	.|0.4079	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|B	.|0.26120	.|0.142	.|B	.|0.41988	.|0.372	.|T	.|0.63607	.|-0.6599	.|10	.|0.54805	.|T	.|0.06	.|-4.93	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95	.|O43852	.|CALU_HUMAN	.|Y	-1|103;95;95;95;103	.|ENSP00000439139:D103Y;ENSP00000442110:D95Y;ENSP00000249364:D95Y;ENSP00000420381:D103Y	.|ENSP00000249364:D95Y	.|D	+|+	.|1	.|0	.|0	CALU|CALU	128181613|128181613	128181613|128181613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.547000|2.547000	0.45786|0.45786	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	.|GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_001219			66	65		334	326	1		1	1		0	0	78	0		1	1	0	101	0	870	0	66	334
CALU	813	broad.mit.edu	37	7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T	rs369749257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000249364.4	+	6	823	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000542996.2_Missense_Mutation_p.R249W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.R90W	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	241	EF-hand 5. {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)			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488																																						ENST00000249364.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(721-723)Cgg>Tgg		calumenin		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,4406		0,0,2203	186.0	175.0	179.0		721,745,745,268,721,	5.4	1.0	7		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,intron	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199674.1,NM_001219.4,NM_001199673.1	101,101,101,101,101,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	241/316,249/324,249/324,90/165,241/316,	128407587	2,13004	2203	4300	6503	SO:0001583	missense	813	2	121412	37				g.chr7:128407587C>T	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.721C>T	chr7.hg19:g.128407587C>T	ENSP00000249364:p.Arg241Trp	0					CALU_ENST00000538546.1_Missense_Mutation_p.R90W|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000542996.2_Missense_Mutation_p.R249W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.R241W	p.R241W	NM_001219.4	NP_001210.1	1	2	3	2.000345	O43852	CALU_HUMAN		6	823	+			B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	1	1	hg19	c.721C>T	CCDS5805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943568|3.943568	0.73672|0.73672	0.0|0.0	2.33E-4|2.33E-4	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	5.44|5.44	5.44|5.44	0.79542|0.79542	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82130|0.82130	0.4970|0.4970	M|M	0.93197|0.93197	3.39|3.39	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	0.86073|0.86073	0.1539|0.1539	10|5	0.39692|.	T|.	0.17|.	-2.4976|-2.4976	11.8068|11.8068	0.52161|0.52161	0.1753:0.8247:0.0:0.0|0.1753:0.8247:0.0:0.0	.|.	249;241|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|L	249;90;241;241;249|72	ENSP00000438248:R249W;ENSP00000438994:R90W;ENSP00000249364:R241W;ENSP00000408838:R241W;ENSP00000420381:R249W|.	ENSP00000249364:R241W|.	R|S	+|+	1|2	2|0	2|0	CALU|CALU	128194823|128194823	128194823|128194823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.578000|2.578000	0.46051|0.46051	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CGG|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-3.359807	1	0.170000	NM_001219			59	56		287	285	1		1	1		0	0	115	0		1	1	0	250	0	1410	0	59	287
OPN1SW	611	broad.mit.edu	37	7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537																																						ENST00000249389.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(73-75)caG>caT		opsin 1 (cone pigments), short-wave-sensitive							81.0	86.0	85.0					7																	128415770		2203	4300	6503	SO:0001583	missense	611	0	0					g.chr7:128415770C>A	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.75G>T	chr7.hg19:g.128415770C>A	ENSP00000249389:p.Gln25His	0						p.Q25H	NM_001708.2	NP_001699.1	1	2	3	2.000345	P03999	OPSB_HUMAN		1	74	-			Q13877	Missense_Mutation	SNP	ENST00000249389.2	1	1	hg19	c.75G>T	CCDS5806.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400767	0.62177	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	H	0.96576	3.845	0.49213	D	0.999768	D	0.71674	0.998	D	0.87578	0.998	T	0.77029	-0.2739	10	0.87932	D	0	.	9.0173	0.36177	0.0:0.9022:0.0:0.0978	.	25	P03999	OPSB_HUMAN	H	25	ENSP00000249389:Q25H	ENSP00000249389:Q25H	Q	-	3	2	2	OPN1SW	128203006	128203006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.381000	0.44336	2.538000	0.85594	0.462000	0.41574	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_001708			85	81		456	446	1		1			0	0	96	0		1	0	0	0	0	0	0	85	456
CCDC136	64753	broad.mit.edu	37	7	128457910	128457910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000297788.4	+	17	3829	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000487361.1_Silent_p.S515S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1154						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577																																						ENST00000297788.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(3460-3462)tcC>tcT		coiled-coil domain containing 136							209.0	209.0	209.0					7																	128457910		2116	4233	6349	SO:0001819	synonymous_variant	64753	0	0					g.chr7:128457910C>T		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.3462C>T	chr7.hg19:g.128457910C>T		0					CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000487361.1_Silent_p.S515S|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Silent_p.S446S	p.S1154S	NM_022742.4	NP_073579	1	2	3	2.000345	Q96JN2	CC136_HUMAN		17	3829	+			A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	1	1	hg19	c.3462C>T	CCDS47704.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	1	0	1		2	2	2	0		0	0	171		171	170	1	2.060000	-3.221983	1	0.170000	NM_022742			109	104		621	602	0		1	0		0	0	171	0		1	2.275625e-02	0	0	0	2	0	109	621
FLNC	2318	broad.mit.edu	37	7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			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						GTTCCATCCGCGCCCCAACTT	0.652																																						ENST00000325888.8	1.000000	0.190000	5.400000e-01	2.700000e-01	0.380000	0.426223	0.380000	0.350000																										0				128						c.(265-267)Cgc>Tgc		filamin C, gamma							59.0	61.0	60.0					7																	128470956		2203	4300	6503	SO:0001583	missense	2318	0	0					g.chr7:128470956C>T	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.265C>T	chr7.hg19:g.128470956C>T	ENSP00000327145:p.Arg89Cys	0					FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	p.R89C	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		1	526	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.265C>T	CCDS43644.1	0	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586300	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60672	0.17;0.17	4.49	3.59	0.41128	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77619	-0.2520	10	0.87932	D	0	.	8.9211	0.35612	0.1678:0.6698:0.1624:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	C	89	ENSP00000327145:R89C;ENSP00000344002:R89C	ENSP00000327145:R89C	R	+	1	0	0	FLNC	128258192	128258192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.195000	0.51013	0.978000	0.38470	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-10.454620	1	0.170000				10	10		315	311	0		1	0		0	0	87	0		9.967513e-01	1.588560e-01	0	0	0	21	0	10	315
FLNC	2318	broad.mit.edu	37	7	128481264	128481264	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	618					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)			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						AGATCGAATGTGACGACAAGG	0.627																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(1852-1854)tgT>tgC		filamin C, gamma							122.0	129.0	127.0					7																	128481264		2138	4230	6368	SO:0001819	synonymous_variant	2318	0	0					g.chr7:128481264T>C	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.1854T>C	chr7.hg19:g.128481264T>C		0					FLNC_ENST00000346177.6_Silent_p.C618C	p.C618C	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		12	2115	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	1	1	hg19	c.1854T>C	CCDS43644.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1		2	2	2	0		0	0	130		130	128	1	2.060000	-20.000000	1	0.170000				110	109		512	501	0		1	1		0	0	130	0		1	9.185182e-01	0	2	0	20	0	110	512
FLNC	2318	broad.mit.edu	37	7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A	rs374124083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1674					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)			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						CAAGGCAGCCGGTGAGGGGAA	0.607																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(5020-5022)Ggt>Agt		filamin C, gamma		G	SER/GLY,SER/GLY	0,4356		0,0,2178	81.0	92.0	88.0		5020,5020	4.5	1.0	7		88	1,8539		0,1,4269	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	56,56	0,1,6447	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	1674/2693,1674/2726	128489453	1,12895	2178	4270	6448	SO:0001583	missense	2318	12	121268	43				g.chr7:128489453G>A	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.5020G>A	chr7.hg19:g.128489453G>A	ENSP00000327145:p.Gly1674Ser	0					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	p.G1674S	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		30	5281	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.5020G>A	CCDS43644.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844753	0.91197	0.0	1.17E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94184	-3.37;-3.37	5.41	4.51	0.55191	5.41	4.51	0.55191	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.92367	3.3	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97636	1.0145	10	0.48119	T	0.1	.	16.0085	0.80380	0.0:0.1347:0.8653:0.0	.	1674;1674	Q14315-2;Q14315	.;FLNC_HUMAN	S	1674	ENSP00000327145:G1674S;ENSP00000344002:G1674S	ENSP00000327145:G1674S	G	+	1	0	0	FLNC	128276689	128276689	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.869000	0.99810	1.245000	0.43885	0.655000	0.94253	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.967728	1	0.170000				48	45		236	227	1		1	1		0	0	66	0		1	9.998801e-01	0	5	0	64	0	48	236
FLNC	2318	broad.mit.edu	37	7	128489608	128489608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_ENST00000346177.6_Silent_p.I1725I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1725					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)			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						GTGAGCACATCCCCAACAGCC	0.587																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(5173-5175)atC>atT		filamin C, gamma							58.0	66.0	63.0					7																	128489608		2050	4196	6246	SO:0001819	synonymous_variant	2318	0	0					g.chr7:128489608C>T	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.5175C>T	chr7.hg19:g.128489608C>T		0					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I1725I	p.I1725I	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		30	5436	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	1	1	hg19	c.5175C>T	CCDS43644.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				52	49		270	265	1		1	1		0	0	85	0		1	9.968524e-01	0	11	0	37	0	52	270
FLNC	2318	broad.mit.edu	37	7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A	rs372251350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2273					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)			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						CGAGGACAGCGCCTACAGCGT	0.632																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				128						c.(6817-6819)Gcc>Acc		filamin C, gamma		G	THR/ALA,THR/ALA	0,4334		0,0,2167	24.0	30.0	28.0		6718,6817	5.0	0.7	7		28	2,8514		0,2,4256	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	58,58	0,2,6423	AA,AG,GG		0.0235,0.0,0.0156	benign,benign	2240/2693,2273/2726	128494556	2,12848	2167	4258	6425	SO:0001583	missense	2318	12	121124	40				g.chr7:128494556G>A	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.6817G>A	chr7.hg19:g.128494556G>A	ENSP00000327145:p.Ala2273Thr	0					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T	p.A2273T	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		41	7078	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.6817G>A	CCDS43644.1	1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615827	0.28801	0.0	2.35E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.80653	-1.4;-1.4	4.99	4.99	0.66335	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059482	0.64402	D	0.000002	T	0.47173	0.1431	N	0.00321	-1.65	0.42726	D	0.993695	B;B	0.12630	0.004;0.006	B;B	0.11329	0.003;0.006	T	0.51896	-0.8647	10	0.30854	T	0.27	.	8.8771	0.35352	0.1742:0.0:0.8258:0.0	.	2240;2273	Q14315-2;Q14315	.;FLNC_HUMAN	T	2273;2240	ENSP00000327145:A2273T;ENSP00000344002:A2240T	ENSP00000327145:A2273T	A	+	1	0	0	FLNC	128281792	128281792	0.966000	0.33281	0.698000	0.30274	0.926000	0.56050	2.589000	0.46145	2.301000	0.77427	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1		2	2	2	0		0	0	14		14	11	1	2.060000	-20.000000	1	0.170000				19	19		48	48	1		1	0		0	0	14	0		9.999973e-01	9.999682e-01	0	1	0	51	0	19	48
FLNC	2318	broad.mit.edu	37	7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2428	Interaction with INPPL1.				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)			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						CCAGCCAGCGTCCTTTGCCGT	0.652																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999870	0.990000	1.000000																										0				128						c.(7282-7284)Tcc>Ccc		filamin C, gamma							64.0	75.0	71.0					7																	128496602		2110	4203	6313	SO:0001583	missense	2318	0	0					g.chr7:128496602T>C	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.7282T>C	chr7.hg19:g.128496602T>C	ENSP00000327145:p.Ser2428Pro	0					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P	p.S2428P	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		44	7543	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.7282T>C	CCDS43644.1	1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361949	0.61403	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	4.94	4.94	0.65067	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.89095	3.005	0.58432	D	0.999995	D;P	0.76494	0.999;0.908	D;P	0.87578	0.998;0.791	D	0.93234	0.6620	10	0.41790	T	0.15	.	14.8887	0.70590	0.0:0.0:0.0:1.0	.	2395;2428	Q14315-2;Q14315	.;FLNC_HUMAN	P	2428;2395	ENSP00000327145:S2428P;ENSP00000344002:S2395P	ENSP00000327145:S2428P	S	+	1	0	0	FLNC	128283838	128283838	1.000000	0.71417	0.950000	0.38849	0.308000	0.27856	7.970000	0.88000	1.969000	0.57287	0.455000	0.32223	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	0		2	2	2	0		0	0	101		101	99	1	2.060000	-20.000000	1	0.170000				61	61		449	444	1		1	1		0	0	101	0		1	9.979818e-01	0	2	0	68	0	61	449
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T	rs200516164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				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)			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						GCGTCCTTTGCCGTGCAGCTG	0.647																																						ENST00000325888.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				128						c.(7288-7290)gCc>gTc		filamin C, gamma		C	VAL/ALA,VAL/ALA	0,4218		0,0,2109	62.0	73.0	69.0		7190,7289	4.9	1.0	7		69	2,8406		0,2,4202	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	64,64	0,2,6311	TT,TC,CC		0.0238,0.0,0.0158	possibly-damaging,possibly-damaging	2397/2693,2430/2726	128496609	2,12624	2109	4204	6313	SO:0001583	missense	2318	11	121122	44				g.chr7:128496609C>T	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.7289C>T	chr7.hg19:g.128496609C>T	ENSP00000327145:p.Ala2430Val	0					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V	p.A2430V	NM_001458.4	NP_001449.3	1	2	3	2.000345	Q14315	FLNC_HUMAN		44	7550	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.7289C>T	CCDS43644.1	1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221215	0.39201	0.0	2.38E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.94	4.94	0.65067	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116802	0.56097	D	0.000026	D	0.87633	0.6226	L	0.59912	1.85	0.47905	D	0.999546	P;P	0.46020	0.55;0.871	B;P	0.54431	0.412;0.752	D	0.84706	0.0731	10	0.21540	T	0.41	.	14.983	0.71324	0.143:0.857:0.0:0.0	.	2397;2430	Q14315-2;Q14315	.;FLNC_HUMAN	V	2430;2397	ENSP00000327145:A2430V;ENSP00000344002:A2397V	ENSP00000327145:A2430V	A	+	2	0	0	FLNC	128283845	128283845	0.998000	0.40836	0.969000	0.41365	0.152000	0.21847	4.005000	0.57075	2.432000	0.82394	0.557000	0.71058	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	0		2	2	2	0		0	0	100		100	98	1	2.060000	-3.252074	1	0.170000				84	83		403	401	1		1	1		0	0	100	0		1	9.997389e-01	0	14	0	46	0	84	403
ATP6V1F	9296	broad.mit.edu	37	7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T	rs572332618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000249289.4	+	2	302	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.R103W|RP11-309L24.4_ENST00000461420.1_lincRNA|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	75					ATP catabolic process (GO:0006200)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587																																						ENST00000249289.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				3						c.(223-225)Cgg>Tgg		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							75.0	67.0	70.0					7																	128505495		2203	4300	6503	SO:0001583	missense	9296	0	0					g.chr7:128505495C>T	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.223C>T	chr7.hg19:g.128505495C>T	ENSP00000249289:p.Arg75Trp	0					ATP6V1F_ENST00000492758.1_Missense_Mutation_p.R103W|RP11-309L24.4_ENST00000461420.1_lincRNA|RP11-309L24.2_ENST00000469965.1_RNA	p.R75W	NM_004231.3	NP_004222.2	1	2	3	2.000345	Q16864	VATF_HUMAN		2	302	+			C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	1	1	hg19	c.223C>T	CCDS5807.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242052	0.79912	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.51817	0.69;0.69	5.02	1.92	0.25849	5.02	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.97611	4.04	0.80722	D	1	P	0.35272	0.493	B	0.43478	0.421	T	0.76372	-0.2983	10	0.87932	D	0	-11.3352	12.7996	0.57578	0.425:0.575:0.0:0.0	.	75	Q16864	VATF_HUMAN	W	75;103	ENSP00000249289:R75W;ENSP00000417378:R103W	ENSP00000249289:R75W	R	+	1	2	2	ATP6V1F	128292731	128292731	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	3.472000	0.53114	0.455000	0.26910	0.591000	0.81541	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-19.395850	1	0.170000	NM_004231			38	36		209	202	1		1	1		0	0	58	0		1	1	0	260	0	1152	0	38	209
SMO	6608	broad.mit.edu	37	7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	739					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCCATTCTGCCCAGAGCCCAG	0.677			Mis		skin basal cell																																	ENST00000249373.3	1.000000	0.670000	1	8.600000e-01	0.990000	0.952900	0.990000	1.000000				Dom	yes			Dom	yes		7	7q31-q32	7q31-q32	6608	Mis	smoothened homolog (Drosophila)				E	E			skin basal cell		0				64						c.(2215-2217)Cca>Tca		smoothened, frizzled class receptor	Fluocinonide(DB01047)|Vismodegib(DB08828)						35.0	33.0	34.0					7																	128852143		2203	4300	6503	SO:0001583	missense	6608	0	0					g.chr7:128852143C>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2215C>T	chr7.hg19:g.128852143C>T	ENSP00000249373:p.Pro739Ser	0					RP11-286H14.8_ENST00000466717.1_RNA	p.P739S	NM_005631.4	NP_005622.1	1	2	3	2.000345	Q99835	SMO_HUMAN		12	2495	+			A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	1	1	hg19	c.2215C>T	CCDS5811.1	1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473417	0.63737	.	.	ENSG00000128602	ENST00000249373	T	0.78595	-1.19	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.214510	0.49916	D	0.000135	T	0.61800	0.2376	N	0.14661	0.345	0.53005	D	0.999968	P	0.39480	0.675	B	0.33960	0.173	T	0.64799	-0.6322	10	0.33940	T	0.23	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	739	Q99835	SMO_HUMAN	S	739	ENSP00000249373:P739S	ENSP00000249373:P739S	P	+	1	0	0	SMO	128639379	128639379	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.314000	0.72848	2.520000	0.84964	0.591000	0.81541	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-19.999990	1	0.170000	NM_005631			18	17		179	173	0		1	1		0	0	32	0		9.999806e-01	9.602117e-01	0	3	0	53	0	18	179
AHCYL2	23382	broad.mit.edu	37	7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	143					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				22						c.(427-429)tCt>tTt		adenosylhomocysteinase-like 2							110.0	94.0	99.0					7																	129019543		2203	4300	6503	SO:0001583	missense	23382	0	0					g.chr7:129019543C>T	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.428C>T	chr7.hg19:g.129019543C>T	ENSP00000315931:p.Ser143Phe	0					AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	p.S143F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	1	2	3	2.000345	Q96HN2	SAHH3_HUMAN		2	482	+			B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	1	1	hg19	c.428C>T	CCDS5812.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035825|5.035825	0.93630|0.93630	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.14;-1.12;-1.12;-1.12;-0.89	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83073|0.83073	0.5175|0.5175	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.76494	.|0.987;0.987;0.999;0.987;0.999	.|P;P;D;P;D	.|0.72338	.|0.878;0.878;0.949;0.878;0.977	D|D	0.85057|0.85057	0.0932|0.0932	5|10	.|0.87932	.|D	.|0	-14.9057|-14.9057	18.0999|18.0999	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;41;143;40;142	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	50|143;142;62;41;40;41;40;41	.|ENSP00000315931:S143F;ENSP00000413639:S142F;ENSP00000431787:S62F;ENSP00000420459:S40F;ENSP00000405267:S41F;ENSP00000420801:S40F;ENSP00000419608:S41F	.|ENSP00000315931:S143F	L|S	+|+	1|2	0|0	0|0	AHCYL2|AHCYL2	128806779|128806779	128806779|128806779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.696000|7.696000	0.84270|0.84270	2.527000|2.527000	0.85204|0.85204	0.555000|0.555000	0.69702|0.69702	CTT|TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.308683	1	0.170000				35	33		155	155	1		1	1		0	0	46	0		1	1	0	107	0	162	0	35	155
NRF1	4899	broad.mit.edu	37	7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612																																						ENST00000393232.1	1.000000	0.420000	8.600000e-01	5.300000e-01	0.670000	0.697628	0.670000	0.660000																										0				24						c.(1399-1401)Gcc>Acc		nuclear respiratory factor 1							99.0	80.0	86.0					7																	129394908		2203	4300	6503	SO:0001583	missense	4899	2	121412	34				g.chr7:129394908G>A	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.1399G>A	chr7.hg19:g.129394908G>A	ENSP00000376924:p.Ala467Thr	0					RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T	p.A467T	NM_005011.3	NP_005002.3	1	2	3	2.000345	Q16656	NRF1_HUMAN		11	1516	+			A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	1	1	hg19	c.1399G>A	CCDS5813.2	0	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589531	0.46214	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	Nuclear respiratory factor-1, activation binding domain (1);	0.160042	0.56097	D	0.000034	T	0.30448	0.0765	N	0.08118	0	0.47905	D	0.999543	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.14952	-1.0454	9	0.19590	T	0.45	-12.9813	11.3646	0.49664	0.0828:0.0:0.9172:0.0	.	486;467	Q96AN2;Q16656	.;NRF1_HUMAN	T	467;401;306;467;486;467;486	.	ENSP00000223190:A467T	A	+	1	0	0	NRF1	129182144	129182144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.462000	0.83206	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-5.638260	1	0.170000	NM_001040110			20	20		338	333	0		1	1		0	0	62	0		9.999952e-01	7.177201e-01	0	4	0	40	0	20	338
ZC3HC1	51530	broad.mit.edu	37	7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000358303.4	-	3	355	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	91					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)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(271-273)Gca>Aca		zinc finger, C3HC-type containing 1							161.0	158.0	159.0					7																	129680929		2203	4300	6503	SO:0001583	missense	51530	0	0					g.chr7:129680929C>T	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.271G>A	chr7.hg19:g.129680929C>T	ENSP00000351052:p.Ala91Thr	0					ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T	p.A91T	NM_016478.3	NP_057562.3	1	2	3	2.000345	Q86WB0	NIPA_HUMAN		3	355	-	Melanoma(18;0.0435)		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	1	1	hg19	c.271G>A	CCDS34753.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337788	0.81911	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.43294	1.54;0.99;1.55;0.95	5.8	5.8	0.92144	5.8	5.8	0.92144	Zinc finger, C3HC-like (1);	0.412542	0.25695	N	0.028910	T	0.48352	0.1495	L	0.45581	1.43	0.80722	D	1	P	0.48998	0.918	P	0.51297	0.665	T	0.17289	-1.0374	10	0.14656	T	0.56	-5.7662	18.6258	0.91338	0.0:1.0:0.0:0.0	.	91	Q86WB0	NIPA_HUMAN	T	91;91;70;91;91	ENSP00000351052:A91T;ENSP00000353933:A91T;ENSP00000309301:A70T;ENSP00000418533:A91T	ENSP00000309301:A70T	A	-	1	0	0	ZC3HC1	129468165	129468165	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.335000	0.65929	2.730000	0.93505	0.563000	0.77884	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	1	0	1		2	2	2	0		0	0	190		190	187	1	2.060000	-20.000000	1	0.170000	NM_016478			163	156		613	585	1		1	1		0	0	190	0		1	9.993844e-01	0	18	0	25	0	163	613
CPA5	93979	broad.mit.edu	37	7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	168						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403																																						ENST00000485477.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				23						c.(502-504)aGc>aAc		carboxypeptidase A5							96.0	86.0	89.0					7																	130001054		2203	4300	6503	SO:0001583	missense	93979	0	0					g.chr7:130001054G>A	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.503G>A	chr7.hg19:g.130001054G>A	ENSP00000420237:p.Ser168Asn	0					CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N	p.S168N			1	2	3	2.000345	Q8WXQ8	CBPA5_HUMAN		6	1632	+	Melanoma(18;0.0435)		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	1	1	hg19	c.503G>A	CCDS5819.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010102	0.75046	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.17	5.25	0.73442	6.17	5.25	0.73442	Peptidase M14, carboxypeptidase A (3);	0.074008	0.56097	D	0.000021	T	0.70334	0.3212	H	0.98048	4.135	0.32261	N	0.570195	D;D	0.67145	0.996;0.993	D;D	0.68621	0.909;0.959	T	0.83180	-0.0089	9	.	.	.	.	16.7161	0.85397	0.0:0.1395:0.8605:0.0	.	168;168	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	168	ENSP00000347549:S168N;ENSP00000418183:S168N;ENSP00000419025:S168N;ENSP00000420237:S168N;ENSP00000393045:S168N;ENSP00000417314:S168N;ENSP00000376907:S168N	.	S	+	2	0	0	CPA5	129788290	129788290	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.210000	0.58500	2.941000	0.99782	0.655000	0.94253	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.992340	1	0.170000	NM_001127441			42	42		223	222	1		1			0	0	35	0		1	0	0	0	0	0	0	42	223
CPA5	93979	broad.mit.edu	37	7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	188						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552																																						ENST00000485477.1	1.000000	0.220000	6.200000e-01	3.100000e-01	0.440000	0.479868	0.440000	0.410000																										0				23						c.(562-564)Gcc>Tcc		carboxypeptidase A5							56.0	51.0	53.0					7																	130002306		2203	4300	6503	SO:0001583	missense	93979	0	0					g.chr7:130002306G>T	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.562G>T	chr7.hg19:g.130002306G>T	ENSP00000420237:p.Ala188Ser	0					CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S	p.A188S			1	2	3	2.000345	Q8WXQ8	CBPA5_HUMAN		7	1691	+	Melanoma(18;0.0435)		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	1	1	hg19	c.562G>T	CCDS5819.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.441848	0.96187	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.87	5.87	0.94306	5.87	5.87	0.94306	Peptidase M14, carboxypeptidase A (4);	0.088968	0.49305	D	0.000146	T	0.33059	0.0850	M	0.67953	2.075	0.44966	D	0.997988	D;D	0.64830	0.987;0.994	D;D	0.71656	0.969;0.974	T	0.00189	-1.1939	9	.	.	.	.	19.1932	0.93675	0.0:0.0:1.0:0.0	.	188;188	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	188	ENSP00000347549:A188S;ENSP00000418183:A188S;ENSP00000419025:A188S;ENSP00000420237:A188S;ENSP00000393045:A188S;ENSP00000417314:A188S;ENSP00000376907:A188S	.	A	+	1	0	0	CPA5	129789542	129789542	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.346000	0.97056	2.777000	0.95525	0.591000	0.81541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	0	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-10.891750	1	0.170000	NM_001127441			10	10		273	267	0		1			0	0	67	0		9.966803e-01	0	0	0	0	0	0	10	273
CPA1	1357	broad.mit.edu	37	7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522																																						ENST00000011292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(439-441)caG>caT		carboxypeptidase A1 (pancreatic)							133.0	104.0	114.0					7																	130022008		2203	4300	6503	SO:0001583	missense	1357	0	0					g.chr7:130022008G>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.441G>T	chr7.hg19:g.130022008G>T	ENSP00000011292:p.Gln147His	0					CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	p.Q147H	NM_001868.2	NP_001859.1	1	2	3	2.000345	P15085	CBPA1_HUMAN		4	591	+	Melanoma(18;0.0435)		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	1	1	hg19	c.441G>T	CCDS5820.1	1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064932	0.20067	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.46	2.23	0.28157	5.46	2.23	0.28157	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.08537	0.0212	L	0.37897	1.145	0.35752	D	0.819525	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.005	T	0.12016	-1.0564	10	0.40728	T	0.16	.	8.373	0.32425	0.0889:0.298:0.6131:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	H	59;147;59;59	ENSP00000420218:Q59H;ENSP00000011292:Q147H;ENSP00000419408:Q59H;ENSP00000419497:Q59H	ENSP00000011292:Q147H	Q	+	3	2	2	CPA1	129809244	129809244	1.000000	0.71417	0.990000	0.47175	0.571000	0.35966	2.309000	0.43699	1.296000	0.44742	-0.305000	0.09177	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.383682	1	0.170000	NM_001868			55	55		260	258	1		1	0		0	0	55	0		1	1	0	0	0	2174	0	55	260
CPA1	1357	broad.mit.edu	37	7	130027777	130027777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	395					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577																																						ENST00000011292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1183-1185)caG>caA		carboxypeptidase A1 (pancreatic)							214.0	209.0	211.0					7																	130027777		2203	4300	6503	SO:0001819	synonymous_variant	1357	0	0					g.chr7:130027777G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1185G>A	chr7.hg19:g.130027777G>A		0					CPA1_ENST00000484324.1_Silent_p.Q307Q	p.Q395Q	NM_001868.2	NP_001859.1	1	2	3	2.000345	P15085	CBPA1_HUMAN		10	1335	+	Melanoma(18;0.0435)		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	1	1	hg19	c.1185G>A	CCDS5820.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	1	0	1		2	2	2	0		0	0	332		332	328	1	2.060000	-20.000000	1	0.170000	NM_001868			320	314		1301	1258	0		1	0		0	0	332	0		1	1	0	1	0	3487	0	320	1301
KLF14	136259	broad.mit.edu	37	7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637																																						ENST00000310992.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998763	0.990000	1.000000																										0				6						c.(718-720)Gac>Aac		Kruppel-like factor 14							35.0	34.0	35.0					7																	130418143		2202	4299	6501	SO:0001583	missense	136259	0	0					g.chr7:130418143C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.718G>A	chr7.hg19:g.130418143C>T	ENSP00000310878:p.Asp240Asn	0						p.D240N	NM_138693.2	NP_619638.2	1	2	3	2.000345	Q8TD94	KLF14_HUMAN		1	745	-	Melanoma(18;0.0435)		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	0	1	hg19	c.718G>A	CCDS5825.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.269922	0.95429	.	.	ENSG00000174595	ENST00000310992	T	0.26067	1.76	4.41	4.41	0.53225	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003517	T	0.34135	0.0887	N	0.14661	0.345	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.36529	-0.9744	10	0.87932	D	0	.	15.3231	0.74139	0.0:1.0:0.0:0.0	.	240	Q8TD94	KLF14_HUMAN	N	240	ENSP00000310878:D240N	ENSP00000310878:D240N	D	-	1	0	0	KLF14	130068683	130068683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.374000	0.81015	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-3.398970	1	0.170000	NM_138693			14	14		72	68	0		1			0	0	18	0		9.997761e-01	0	0	0	0	0	0	14	72
KLF14	136259	broad.mit.edu	37	7	130418358	130418358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418358C>T	ENST00000310992.4	-	1	530	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	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)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TAGGGCCCCTCCAGAGAACCC	0.761																																						ENST00000310992.4	1.000000	0.280000	1	5.400000e-01	0.930000	0.818313	0.930000	1.000000																										0				6						c.(502-504)gGa>gAa		Kruppel-like factor 14							3.0	4.0	4.0					7																	130418358		1864	3796	5660	SO:0001583	missense	136259	0	0					g.chr7:130418358C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.503G>A	chr7.hg19:g.130418358C>T	ENSP00000310878:p.Gly168Glu	0						p.G168E	NM_138693.2	NP_619638.2	1	2	3	2.000345	Q8TD94	KLF14_HUMAN		1	530	-	Melanoma(18;0.0435)		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	0	1	hg19	c.503G>A	CCDS5825.1	1	.	.	.	.	.	.	.	.	.	.	c	0.477	-0.881645	0.02530	.	.	ENSG00000174595	ENST00000310992	T	0.09817	2.94	3.56	-2.17	0.07059	3.56	-2.17	0.07059	.	.	.	.	.	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.02654	T	1	.	5.1683	0.15098	0.0:0.3054:0.1565:0.538	.	168	Q8TD94	KLF14_HUMAN	E	168	ENSP00000310878:G168E	ENSP00000310878:G168E	G	-	2	0	0	KLF14	130068898	130068898	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.555000	0.05999	-0.670000	0.05282	-0.261000	0.10672	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-7.747486	1	0.170000	NM_138693			3	3		38	35	0		1			0	0	9	0		7.876870e-01	0	0	0	0	0	0	3	38
MKLN1	4289	broad.mit.edu	37	7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	636					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				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)					GGCATTGCAAGTACCTCATAA	0.333																																						ENST00000352689.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1906-1908)aaG>aaT		muskelin 1, intracellular mediator containing kelch motifs							91.0	91.0	91.0					7																	131151154		2203	4300	6503	SO:0001583	missense	4289	0	0					g.chr7:131151154G>T	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.1908G>T	chr7.hg19:g.131151154G>T	ENSP00000323527:p.Lys636Asn	0					MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	p.K636N	NM_013255.4	NP_037387.2	1	2	3	2.000345	Q9UL63	MKLN1_HUMAN		15	1948	+	Melanoma(18;0.162)		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	1	1	hg19	c.1908G>T	CCDS34754.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068109	0.55539	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.49139	1.79;0.79	5.8	3.81	0.43845	5.8	3.81	0.43845	.	0.045341	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71036	2.16	0.58432	D	0.999998	B;P;B;P	0.49090	0.399;0.624;0.314;0.919	B;B;B;P	0.51742	0.209;0.206;0.134;0.678	T	0.53027	-0.8496	10	0.59425	D	0.04	-15.6556	5.1238	0.14875	0.4208:0.0:0.5792:0.0	.	636;613;544;126	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	N	544;636;126	ENSP00000398094:K544N;ENSP00000323527:K636N	ENSP00000323527:K636N	K	+	3	2	2	MKLN1	130801694	130801694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.337000	0.59310	0.721000	0.32231	0.650000	0.86243	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_013255			58	57		286	281	1		1	1		0	0	60	0		1	1	0	37	0	89	0	58	286
PODXL	5420	broad.mit.edu	37	7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000378555.3	-	9	1865	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_ENST00000541194.1_Missense_Mutation_p.V542I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I			O00592	PODXL_HUMAN	podocalyxin-like	540					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.0					ENST00000378555.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1618-1620)Gtc>Atc		podocalyxin-like		C	ILE/VAL,ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	146.0	121.0	129.0		1618,1522	5.7	1.0	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	PODXL	NM_001018111.2,NM_005397.3	29,29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging,probably-damaging	540/559,508/527	131189129	7,12999	2203	4300	6503	SO:0001583	missense	5420	20	121412	46				g.chr7:131189129C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1618G>A	chr7.hg19:g.131189129C>T	ENSP00000367817:p.Val540Ile	0					PODXL_ENST00000322985.9_Missense_Mutation_p.V508I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000541194.1_Missense_Mutation_p.V542I	p.V540I			1	2	3	2.000345	O00592	PODXL_HUMAN		9	1865	-	Melanoma(18;0.162)		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	1	1	hg19	c.1618G>A	CCDS34755.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.8	5.032775	0.93575	0.001589	0.0	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.42086	0.1187	M	0.74881	2.28	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47381	-0.9122	10	0.87932	D	0	-42.4028	12.0939	0.53744	0.0:0.9222:0.0:0.0778	.	508;540	O00592-2;O00592	.;PODXL_HUMAN	I	542;508;498;540;508	ENSP00000440518:V542I;ENSP00000442655:V508I;ENSP00000367817:V540I;ENSP00000319782:V508I	ENSP00000319782:V508I	V	-	1	0	0	PODXL	130839669	130839669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_001018111			55	55		283	278	1		1	1		0	0	71	0		1	9.999985e-01	0	19	0	85	0	55	283
PODXL	5420	broad.mit.edu	37	7	131189241	131189241	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000378555.3	-	9	1753	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_ENST00000541194.1_Silent_p.T504T|PODXL_ENST00000322985.9_Silent_p.T470T|PODXL_ENST00000537928.1_Silent_p.T470T			O00592	PODXL_HUMAN	podocalyxin-like	502					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557																																						ENST00000378555.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1504-1506)acA>acG		podocalyxin-like							160.0	139.0	146.0					7																	131189241		2203	4300	6503	SO:0001819	synonymous_variant	5420	37	121412	48				g.chr7:131189241T>C		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1506A>G	chr7.hg19:g.131189241T>C		0					PODXL_ENST00000322985.9_Silent_p.T470T|PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000541194.1_Silent_p.T504T	p.T502T			1	2	3	2.000345	O00592	PODXL_HUMAN		9	1753	-	Melanoma(18;0.162)		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	1	1	hg19	c.1506A>G	CCDS34755.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_001018111			76	74		405	399	1		1	1		0	0	121	0		1	9.999985e-01	0	16	0	88	0	76	405
PODXL	5420	broad.mit.edu	37	7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000378555.3	-	2	416	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000541194.1_Missense_Mutation_p.A59T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T			O00592	PODXL_HUMAN	podocalyxin-like	57	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512																																						ENST00000378555.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(169-171)Gct>Act		podocalyxin-like							192.0	190.0	191.0					7																	131196124		2203	4300	6503	SO:0001583	missense	5420	0	0					g.chr7:131196124C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.169G>A	chr7.hg19:g.131196124C>T	ENSP00000367817:p.Ala57Thr	0					PODXL_ENST00000322985.9_Missense_Mutation_p.A57T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000541194.1_Missense_Mutation_p.A59T	p.A57T			1	2	3	2.000345	O00592	PODXL_HUMAN		2	416	-	Melanoma(18;0.162)		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	1	1	hg19	c.169G>A	CCDS34755.1	1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687178	0.14973	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.34	-4.67	0.03319	2.34	-4.67	0.03319	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.13791	-1.0496	9	0.27785	T	0.31	0.3962	4.1262	0.10128	0.0:0.265:0.3281:0.4069	.	57;57	O00592-2;O00592	.;PODXL_HUMAN	T	59;57;47;57;57	ENSP00000440518:A59T;ENSP00000442655:A57T;ENSP00000367817:A57T;ENSP00000319782:A57T	ENSP00000319782:A57T	A	-	1	0	0	PODXL	130846664	130846664	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.318000	0.00514	-1.236000	0.02542	-0.451000	0.05528	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.319884	1	0.170000	NM_001018111			64	63		371	356	1		1	1		0	0	67	0		1	9.998896e-01	0	18	0	61	0	64	371
PLXNA4	91584	broad.mit.edu	37	7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4	1735					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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592																																						ENST00000359827.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994051	0.990000	1.000000																										0				45						c.(5203-5205)cGc>cAc		plexin A4							69.0	74.0	72.0					7																	131829899		2203	4300	6503	SO:0001583	missense	91584	1	121412	28				g.chr7:131829899C>T	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.5204G>A	chr7.hg19:g.131829899C>T	ENSP00000352882:p.Arg1735His	0					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H	p.R1735H			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		29	6166	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	0	1	hg19	c.5204G>A	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995290	0.74703	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11604	2.76;2.76	5.21	5.21	0.72293	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055041	0.64402	D	0.000003	T	0.34308	0.0893	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.06058	-1.0848	10	0.59425	D	0.04	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1735	Q9HCM2	PLXA4_HUMAN	H	1735	ENSP00000323194:R1735H;ENSP00000352882:R1735H	ENSP00000323194:R1735H	R	-	2	0	0	PLXNA4	131480439	131480439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.776000	0.85560	2.426000	0.82243	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	0	0	1		16	2	2	1		1	1	73		73	68	1	2.060000	-2.429494	0	0.170000	NM_181775			34	34		285	278	1		1	0		1	0	73	0		9.968906e-01	1.219017e-02	0	0	0	2	0	34	285
PLXNA4	91584	broad.mit.edu	37	7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A	rs369917118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4	1347					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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602																																						ENST00000359827.3	1.000000	0.600000	1	7.600000e-01	0.960000	0.905604	0.960000	1.000000																										0				45						c.(4039-4041)Cgt>Tgt		plexin A4		G	CYS/ARG	0,4404		0,0,2202	48.0	55.0	52.0		4039	5.5	1.0	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA4	NM_020911.1	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	1347/1895	131853310	1,13003	2202	4300	6502	SO:0001583	missense	91584	3	121340	31				g.chr7:131853310G>A	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.4039C>T	chr7.hg19:g.131853310G>A	ENSP00000352882:p.Arg1347Cys	0					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C	p.R1347C			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		22	5001	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	1	1	hg19	c.4039C>T	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392914	0.62066	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12147	2.71;2.71	5.49	5.49	0.81192	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050603	0.85682	D	0.000000	T	0.15869	0.0382	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.13407	0.009	T	0.02546	-1.1143	10	0.56958	D	0.05	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1347	Q9HCM2	PLXA4_HUMAN	C	1347	ENSP00000323194:R1347C;ENSP00000352882:R1347C	ENSP00000323194:R1347C	R	-	1	0	0	PLXNA4	131503850	131503850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.333000	0.65917	2.582000	0.87167	0.462000	0.41574	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.318807	1	0.170000	NM_181775			20	20		231	228	0		1			0	0	40	0		9.999955e-01	0	0	0	0	0	0	20	231
PLXNA4	91584	broad.mit.edu	37	7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T	rs539545375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4	1307					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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582																																						ENST00000359827.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				45						c.(3919-3921)Ctg>Atg		plexin A4							96.0	105.0	102.0					7																	131859635		2167	4293	6460	SO:0001583	missense	91584	0	0					g.chr7:131859635G>T	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.3919C>A	chr7.hg19:g.131859635G>T	ENSP00000352882:p.Leu1307Met	0					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M	p.L1307M			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		21	4881	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	1	1	hg19	c.3919C>A	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019699	0.54576	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01295	5.04;5.04	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.42581	1.335	0.80722	D	1	P	0.51933	0.949	P	0.53401	0.725	T	0.57171	-0.7857	10	0.46703	T	0.11	.	12.8721	0.57970	0.0743:0.0:0.9257:0.0	.	1307	Q9HCM2	PLXA4_HUMAN	M	1307	ENSP00000323194:L1307M;ENSP00000352882:L1307M	ENSP00000323194:L1307M	L	-	1	2	2	PLXNA4	131510175	131510175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.289000	0.43523	2.643000	0.89663	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-3.075756	1	0.170000	NM_181775			67	66		487	476	1		1			0	0	101	0		1	0	0	0	0	0	0	67	487
PLXNA4	91584	broad.mit.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.				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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592																																						ENST00000359827.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997803	0.990000	1.000000																										0				45						c.(2032-2034)Cgg>Tgg		plexin A4							44.0	47.0	46.0					7																	131908351		2099	4251	6350	SO:0001583	missense	91584	2	121094	24				g.chr7:131908351G>A	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.2032C>T	chr7.hg19:g.131908351G>A	ENSP00000352882:p.Arg678Trp	0					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W	p.R678W			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		9	2994	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	1	1	hg19	c.2032C>T	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	2	PLXNA4	131558891	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.264496	1	0.170000	NM_181775			15	15		88	87	1		1			0	0	26	0		9.999080e-01	0	0	0	0	0	0	15	88
PLXNA4	91584	broad.mit.edu	37	7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4	424	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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCGTGAAGACGGGAATTCCA	0.502													C|||	6	0.00119808	0.0008	0.0	5008	,	,		20967	0.001		0.004	False		,,,				2504	0.0					ENST00000359827.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1270-1272)Gtc>Atc		plexin A4		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	112.0	92.0	99.0		1270,1270,1270	4.3	0.9	7	dbSNP_134	99	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	29,29,29	0,21,6482	TT,TC,CC		0.2209,0.0454,0.1615	benign,benign,benign	424/493,424/1895,424/523	132174152	21,12985	2203	4300	6503	SO:0001583	missense	91584	409	121412	56				g.chr7:132174152C>T	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.1270G>A	chr7.hg19:g.132174152C>T	ENSP00000352882:p.Val424Ile	0					PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I	p.V424I			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		3	2232	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	1	0	hg19	c.1270G>A	CCDS43646.1	1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	9.939	1.217033	0.22373	4.54E-4	0.002209	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.22	4.26	0.50523	5.22	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236540	0.26574	U	0.023617	T	0.06508	0.0167	L	0.45698	1.435	0.40578	D	0.98136	B;B;B	0.15473	0.006;0.013;0.003	B;B;B	0.15870	0.003;0.014;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	.	7.7108	0.28677	0.0:0.8352:0.0:0.1648	.	424;424;424	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	424	ENSP00000323194:V424I;ENSP00000352882:V424I;ENSP00000392772:V424I;ENSP00000367800:V424I	ENSP00000323194:V424I	V	-	1	0	0	PLXNA4	131824692	131824692	0.997000	0.39634	0.949000	0.38748	0.046000	0.14306	2.770000	0.47662	2.712000	0.92718	0.650000	0.86243	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-2.587018	1	0.170000	NM_181775			43	43		173	171	1		1	0		0	0	50	0		1	4.147292e-02	0	0	0	2	0	43	173
PLXNA4	91584	broad.mit.edu	37	7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4	135	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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542																																						ENST00000359827.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				45						c.(403-405)Caa>Taa		plexin A4							65.0	60.0	62.0					7																	132193050		2203	4300	6503	SO:0001587	stop_gained	91584	0	0					g.chr7:132193050G>A	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.403C>T	chr7.hg19:g.132193050G>A	ENSP00000352882:p.Gln135*	0					PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*	p.Q135*			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		2	1365	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	0	1	hg19	c.403C>T	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.876018	0.97904	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	.	.	.	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000323194:Q135X	Q	-	1	0	0	PLXNA4	131843590	131843590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	0		2	2	2	0		0	0	70		70	70	1	2.060000	-18.730950	1	0.170000	NM_181775			38	36		225	220	1		1	0		0	0	70	0		1	2.213080e-02	0	0	0	2	0	38	225
PLXNA4	91584	broad.mit.edu	37	7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4	116	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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572																																						ENST00000359827.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(346-348)aaG>aaT		plexin A4							56.0	54.0	55.0					7																	132193105		2203	4300	6503	SO:0001583	missense	91584	0	0					g.chr7:132193105C>A	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.348G>T	chr7.hg19:g.132193105C>A	ENSP00000352882:p.Lys116Asn	0					PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N	p.K116N			1	2	3	2.000345	Q9HCM2	PLXA4_HUMAN		2	1310	-			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	1	1	hg19	c.348G>T	CCDS43646.1	1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963128	0.53507	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.23	0.37069	5.39	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000003	T	0.30823	0.0777	M	0.91249	3.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.87932	D	0	.	6.3108	0.21164	0.0:0.6125:0.0:0.3874	.	116;116;116	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	116	ENSP00000323194:K116N;ENSP00000352882:K116N;ENSP00000392772:K116N;ENSP00000367800:K116N	ENSP00000323194:K116N	K	-	3	2	2	PLXNA4	131843645	131843645	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	1.271000	0.44313	0.462000	0.41574	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_181775			50	47		220	211	1		1	0		0	0	60	0		1	2.382447e-01	0	0	0	5	0	50	220
CHCHD3	54927	broad.mit.edu	37	7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	195	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517																																						ENST00000262570.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(583-585)Cgt>Tgt		coiled-coil-helix-coiled-coil-helix domain containing 3							143.0	120.0	128.0					7																	132481280		2203	4300	6503	SO:0001583	missense	54927	6	121410	39				g.chr7:132481280G>A	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.583C>T	chr7.hg19:g.132481280G>A	ENSP00000262570:p.Arg195Cys	0					CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	p.R195C	NM_017812.2	NP_060282.1	1	2	3	2.000345	Q9NX63	MIC19_HUMAN		7	727	-				Missense_Mutation	SNP	ENST00000262570.5	1	1	hg19	c.583C>T	CCDS5828.1	1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852934	0.32699	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.52057	0.69;0.68	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.141061	0.64402	D	0.000004	T	0.60090	0.2242	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.011	P;B	0.54706	0.759;0.004	T	0.58945	-0.7546	10	0.52906	T	0.07	-7.3234	19.6745	0.95926	0.0:0.0:1.0:0.0	.	200;195	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	C	195;200	ENSP00000262570:R195C;ENSP00000389297:R200C	ENSP00000262570:R195C	R	-	1	0	0	CHCHD3	132131820	132131820	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.800000	0.75165	2.747000	0.94245	0.650000	0.86243	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.504627	1	0.170000	NM_017812			51	50		236	233	1		1	1		0	0	60	0		1	1	0	67	0	218	0	51	236
EXOC4	60412	broad.mit.edu	37	7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					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)			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)				ATCACAGAGCGCATCACTAAC	0.473																																						ENST00000253861.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				50						c.(244-246)cGc>cAc		exocyst complex component 4							112.0	101.0	105.0					7																	132959895		2203	4300	6503	SO:0001583	missense	60412	1	121412	27				g.chr7:132959895G>A	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.245G>A	chr7.hg19:g.132959895G>A	ENSP00000253861:p.Arg82His	0					EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H|EXOC4_ENST00000539845.1_5'UTR	p.R82H	NM_021807.3	NP_068579.3	1	2	3	2.000345	Q96A65	EXOC4_HUMAN		2	274	+		Esophageal squamous(399;0.129)	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	1	1	hg19	c.245G>A	CCDS5829.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.148632	0.94603	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.945;0.973	T	0.59322	-0.7476	9	0.22109	T	0.4	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	82;82	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	82	.	ENSP00000253861:R82H	R	+	2	0	0	EXOC4	132610435	132610435	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.360000	0.97119	2.579000	0.87056	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	0	0	1		16	10	2	1		1	1	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_021807			39	38		222	214	1		1	1		1	0	55	0		9.995274e-01	9.948382e-01	0	33	0	110	0	39	222
LRGUK	136332	broad.mit.edu	37	7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	710						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			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						CTTTAGAAGAACTCTGGAAAA	0.368																																						ENST00000285928.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2128-2130)gaA>gaC		leucine-rich repeats and guanylate kinase domain containing							79.0	81.0	81.0					7																	133933760		2203	4300	6503	SO:0001583	missense	136332	0	0					g.chr7:133933760A>C	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.2130A>C	chr7.hg19:g.133933760A>C	ENSP00000285928:p.Glu710Asp	0						p.E710D	NM_144648.1	NP_653249.1	1	2	3	2.000345	Q96M69	LRGUK_HUMAN		18	2199	+			Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	1	1	hg19	c.2130A>C	CCDS5830.1	1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865667	0.17250	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	3.27	-4.44	0.03557	3.27	-4.44	0.03557	.	0.311846	0.27754	N	0.018000	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05903	-1.0857	10	0.48119	T	0.1	-11.3641	1.0572	0.01592	0.304:0.1769:0.346:0.1732	.	710	Q96M69	LRGUK_HUMAN	D	710	ENSP00000285928:E710D	ENSP00000285928:E710D	E	+	3	2	2	LRGUK	133584300	133584300	0.043000	0.20138	0.001000	0.08648	0.023000	0.10783	0.036000	0.13819	-0.943000	0.03691	-0.263000	0.10527	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_144648			67	64		232	230	0		1	0		0	0	64	0		1	2.226552e-01	0	0	0	4	0	67	232
SLC35B4	84912	broad.mit.edu	37	7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	67					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388																																						ENST00000378509.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				5						c.(199-201)Gcc>Acc		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							112.0	87.0	96.0					7																	133991519		2203	4300	6503	SO:0001583	missense	84912	0	0					g.chr7:133991519C>T	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.199G>A	chr7.hg19:g.133991519C>T	ENSP00000367770:p.Ala67Thr	0						p.A67T	NM_032826.4	NP_116215.1	1	2	3	2.000345	Q969S0	S35B4_HUMAN		3	498	-			A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	1	1	hg19	c.199G>A	CCDS34756.1	1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040817	0.35989	.	.	ENSG00000205060	ENST00000378509	T	0.70516	-0.49	5.5	4.61	0.57282	5.5	4.61	0.57282	.	0.408445	0.27035	N	0.021249	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.32534	-0.9903	10	0.22706	T	0.39	-10.5705	5.4046	0.16314	0.1271:0.5738:0.223:0.0761	.	67;67	Q969S0-2;Q969S0	.;S35B4_HUMAN	T	67	ENSP00000367770:A67T	ENSP00000367770:A67T	A	-	1	0	0	SLC35B4	133642059	133642059	0.104000	0.21937	0.076000	0.20297	0.850000	0.48378	0.726000	0.25984	1.445000	0.47624	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_032826			28	28		133	131	1		1	1		0	0	35	0		1	9.402781e-01	0	3	0	22	0	28	133
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	189					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)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532																																						ENST00000285930.4	1.000000	0.550000	1	7.300000e-01	0.950000	0.891607	0.950000	1.000000																										0				14						c.(565-567)ccA>ccG		aldo-keto reductase family 1, member B1 (aldose reductase)	Sulindac(DB00605)						103.0	96.0	98.0					7																	134133231		2203	4300	6503	SO:0001819	synonymous_variant	231	0	0					g.chr7:134133231T>C	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.567A>G	chr7.hg19:g.134133231T>C		0					AKR1B1_ENST00000489022.1_5'Flank	p.P189P	NM_001628.2	NP_001619.1	1	2	3	2.000345	P15121	ALDR_HUMAN		6	646	-			B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	1	1	hg19	c.567A>G	CCDS5831.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.861040	1	0.170000	NM_001628			15	15		176	172	0		1	1		0	0	38	0		9.998739e-01	1	0	26	0	923	0	15	176
AKR1B1	231	broad.mit.edu	37	7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	183					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)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488																																						ENST00000285930.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(547-549)aaC>aaA		aldo-keto reductase family 1, member B1 (aldose reductase)	Sulindac(DB00605)						208.0	190.0	196.0					7																	134133752		2203	4300	6503	SO:0001583	missense	231	0	0					g.chr7:134133752G>T	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.549C>A	chr7.hg19:g.134133752G>T	ENSP00000285930:p.Asn183Lys	0					AKR1B1_ENST00000489022.1_5'Flank	p.N183K	NM_001628.2	NP_001619.1	1	2	3	2.000345	P15121	ALDR_HUMAN		5	628	-			B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	1	1	hg19	c.549C>A	CCDS5831.1	1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869956	0.72065	.	.	ENSG00000085662	ENST00000285930	T	0.26810	1.71	5.23	5.23	0.72850	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.133468	0.64402	D	0.000003	T	0.66761	0.2822	H	0.98646	4.29	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.79364	-0.1834	10	0.87932	D	0	.	13.5061	0.61485	0.0775:0.0:0.9225:0.0	.	183	P15121	ALDR_HUMAN	K	183	ENSP00000285930:N183K	ENSP00000285930:N183K	N	-	3	2	2	AKR1B1	133784292	133784292	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.956000	0.29202	2.608000	0.88229	0.561000	0.74099	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	0	0	1		2	2	2	0		0	0	179		179	178	1	2.060000	-20.000000	1	0.170000	NM_001628			138	136		597	592	1		1	1		0	0	179	0		1	1	0	124	0	978	0	138	597
AKR1B15	441282	broad.mit.edu	37	7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443																																						ENST00000457545.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(205-207)cGc>cAc		aldo-keto reductase family 1, member B15							103.0	106.0	105.0					7																	134252965		2203	4300	6503	SO:0001583	missense	441282	1	121412	36				g.chr7:134252965G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.206G>A	chr7.hg19:g.134252965G>A	ENSP00000389289:p.Arg69His	0					AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	p.R69H	NM_001080538.2	NP_001074007.2	1	2	3	2.000345	C9JRZ8	AK1BF_HUMAN		4	466	+			C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	1	1	hg19	c.206G>A	CCDS47715.2	1	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732917	0.30684	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28255	1.62;1.62	2.96	1.07	0.20283	2.96	1.07	0.20283	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34279	0.0892	M	0.87758	2.905	0.44754	D	0.99775	B;B;B	0.30281	0.078;0.275;0.058	B;B;B	0.26517	0.013;0.07;0.021	T	0.16129	-1.0413	9	0.62326	D	0.03	.	6.9252	0.24412	0.2502:0.0:0.7498:0.0	.	41;69;41	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	H	69;41	ENSP00000389289:R69H;ENSP00000397009:R41H	ENSP00000397009:R41H	R	+	2	0	0	AKR1B15	133903505	133903505	0.975000	0.34042	0.031000	0.17742	0.060000	0.15804	4.974000	0.63771	0.114000	0.18032	-0.358000	0.07595	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000				85	83		353	346	1		1	0		0	0	98	0		1	3.855906e-02	0	0	0	2	0	85	353
BPGM	669	broad.mit.edu	37	7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000344924.3_Missense_Mutation_p.A94V|BPGM_ENST00000418040.1_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	94					carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532																																						ENST00000393132.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				5						c.(280-282)gCc>gTc		2,3-bisphosphoglycerate mutase							73.0	68.0	70.0					7																	134346540		2203	4300	6503	SO:0001583	missense	669	0	0					g.chr7:134346540C>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.281C>T	chr7.hg19:g.134346540C>T	ENSP00000376840:p.Ala94Val	0					BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	p.A94V	NM_199186.2	NP_954655.1	1	2	3	2.000345	P07738	PMGE_HUMAN		3	770	+			A4D1N9	Missense_Mutation	SNP	ENST00000393132.2	1	1	hg19	c.281C>T	CCDS5833.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.118106	0.94385	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	5.13	0.70059	6.02	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.090205	0.85682	D	0.000000	T	0.79975	0.4539	M	0.63169	1.94	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	T	0.82727	-0.0314	10	0.87932	D	0	-9.1969	17.3607	0.87349	0.0:0.875:0.125:0.0	.	94	P07738	PMGE_HUMAN	V	94	ENSP00000342032:A94V;ENSP00000399838:A94V;ENSP00000376840:A94V	ENSP00000342032:A94V	A	+	2	0	0	BPGM	133997080	133997080	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.092000	0.71414	1.543000	0.49345	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	1	0	0		2	2	2	0		0	0	56		56	55	1	2.060000	-3.358574	1	0.170000	NM_001724			37	36		190	185	1		1	1		0	0	56	0		1	9.999958e-01	0	14	0	88	0	37	190
CALD1	800	broad.mit.edu	37	7	134618572	134618572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	ENST00000361675.2	+	5	1281	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	351	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				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)			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						gaagagaaaagggcagcagag	0.532																																						ENST00000361675.2	1.000000	0.960000	1	9.900000e-01	0.990000	0.996160	0.990000	1.000000																										0				43						c.(1051-1053)aGg>aTg		caldesmon 1							111.0	131.0	124.0					7																	134618572		2197	4295	6492	SO:0001583	missense	800	0	0					g.chr7:134618572G>T	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.1052G>T	chr7.hg19:g.134618572G>T	ENSP00000354826:p.Arg351Met	0					CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron	p.R351M			1	2	3	2.000345	Q05682	CALD1_HUMAN		5	1281	+			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	0	1	hg19	c.1052G>T	CCDS5835.1	1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259906	0.10239	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	3.1	1.14	0.20703	3.1	1.14	0.20703	.	0.667275	0.11937	N	0.515172	T	0.44871	0.1314	L	0.40543	1.245	0.31670	N	0.644534	D	0.60575	0.988	P	0.58660	0.843	T	0.49103	-0.8974	9	.	.	.	.	6.6147	0.22771	0.3535:0.0:0.6465:0.0	.	351	Q05682	CALD1_HUMAN	M	351	ENSP00000354826:R351M	.	R	+	2	0	0	CALD1	134269112	134269112	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	-0.082000	0.11304	0.259000	0.21709	0.462000	0.41574	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	1	0	0		2	2	7	0		0	0	15		15	0	1	2.060000	-8.539370	1	0.170000	NM_033138			10	0		51	0	1			0	1	0	2	15	2200		0	8.122877e-01	1	0	317	18	1613	10	51
CALD1	800	broad.mit.edu	37	7	134635161	134635161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	ENST00000361675.2	+	9	2060	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000361388.2_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000466704.1_3'UTR			Q05682	CALD1_HUMAN	caldesmon 1	611	Tropomyosin-binding. {ECO:0000255}.				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)			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						GATTGAAAGGCGAAGAGCAGA	0.453																																						ENST00000361675.2	1.000000	0.310000	7.800000e-01	4.200000e-01	0.570000	0.607681	0.570000	0.540000																										0				43						c.(1831-1833)Cga>Tga		caldesmon 1							86.0	85.0	85.0					7																	134635161		2203	4300	6503	SO:0001587	stop_gained	800	0	0					g.chr7:134635161C>T	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.1831C>T	chr7.hg19:g.134635161C>T	ENSP00000354826:p.Arg611*	0					CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*|CALD1_ENST00000361388.2_Nonsense_Mutation_p.R382*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*	p.R611*			1	2	3	2.000345	Q05682	CALD1_HUMAN		9	2060	+			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Nonsense_Mutation	SNP	ENST00000361675.2	0	1	hg19	c.1831C>T	CCDS5835.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.976056	0.99023	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	.	.	.	5.52	4.55	0.56014	5.52	4.55	0.56014	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6252	13.0117	0.58735	0.548:0.452:0.0:0.0	.	.	.	.	X	356;356;382;382;611;356;376;350;376;361	.	ENSP00000355000:R382X	R	+	1	2	2	CALD1	134285701	134285701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.780000	0.62382	1.103000	0.41568	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	1	0	1		2	2	8	0		0	0	61		61	60	1	2.060000	-3.217720	1	0.170000	NM_033138			12	12		244	241	0		1	1	1	0	1	61	1077		9.991179e-01	1	9.999935e-01	2	37	2042	1065	12	244
TMEM140	55281	broad.mit.edu	37	7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	29			F -> L (in dbSNP:rs292501). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562																																						ENST00000275767.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(85-87)tTt>tCt		transmembrane protein 140							165.0	144.0	151.0					7																	134849279		2203	4300	6503	SO:0001583	missense	55281	0	0					g.chr7:134849279T>C	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.86T>C	chr7.hg19:g.134849279T>C	ENSP00000275767:p.Phe29Ser	0					C7orf49_ENST00000459937.1_Intron	p.F29S	NM_018295.3	NP_060765.4	1	2	3	2.000345	Q9NV12	TM140_HUMAN		2	309	+			A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	1	1	hg19	c.86T>C	CCDS5837.1	1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064210	0.20067	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	4.5	0.54988	5.68	4.5	0.54988	.	0.413393	0.23396	N	0.048631	T	0.17662	0.0424	L	0.53249	1.67	0.25660	N	0.98601	B	0.28783	0.222	B	0.30251	0.113	T	0.13308	-1.0514	10	0.40728	T	0.16	-26.4586	9.709	0.40233	0.0:0.0809:0.0:0.9191	.	29	Q9NV12	TM140_HUMAN	S	29	ENSP00000275767:F29S	ENSP00000275767:F29S	F	+	2	0	0	TMEM140	134499819	134499819	0.225000	0.23685	0.963000	0.40424	0.010000	0.07245	1.083000	0.30815	0.940000	0.37473	0.460000	0.39030	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000	NM_018295			139	138		574	565	1		1	1		0	0	108	0		1	1	0	21	0	155	0	139	574
STRA8	346673	broad.mit.edu	37	7	134927583	134927583	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458																																						ENST00000275764.3	1.000000	0.840000	1	9.800000e-01	0.990000	0.986803	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T103T(1)	large_intestine(1)	16						c.(307-309)acC>acA		stimulated by retinoic acid 8							117.0	115.0	116.0					7																	134927583		2203	4300	6503	SO:0001819	synonymous_variant	346673	0	0					g.chr7:134927583C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.309C>A	chr7.hg19:g.134927583C>A		0						p.T103T	NM_182489.1	NP_872295.1	1	2	3	2.000345				3	309	+				Silent	SNP	ENST00000275764.3	1	1	hg19	c.309C>A	CCDS5839.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.017764	1	0.170000	NM_182489			43	43		402	392	1		1			0	0	88	0		1	0	0	0	0	0	0	43	402
STRA8	346673	broad.mit.edu	37	7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGCAAGCAGCTTAGAGGAGG	0.502																																						ENST00000275764.3	1.000000	0.250000	6.900000e-01	3.500000e-01	0.490000	0.532321	0.490000	0.460000																										0				16						c.(367-369)agC>agA		stimulated by retinoic acid 8							111.0	99.0	103.0					7																	134928112		2203	4300	6503	SO:0001583	missense	346673	0	0					g.chr7:134928112C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.369C>A	chr7.hg19:g.134928112C>A	ENSP00000275764:p.Ser123Arg	0						p.S123R	NM_182489.1	NP_872295.1	1	2	3	2.000345				4	369	+				Missense_Mutation	SNP	ENST00000275764.3	1	1	hg19	c.369C>A	CCDS5839.1	0	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854274	0.51270	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	3.14	0.36123	5.29	3.14	0.36123	.	0.534314	0.19603	N	0.110330	T	0.54532	0.1864	M	0.62723	1.935	0.18873	N	0.999987	D	0.61080	0.989	P	0.58873	0.847	T	0.46414	-0.9193	9	0.72032	D	0.01	-17.1714	11.4153	0.49949	0.0:0.7779:0.0:0.2221	.	123	Q7Z7C7	STRA8_HUMAN	R	123	.	ENSP00000275764:S123R	S	+	3	2	2	STRA8	134578652	134578652	0.954000	0.32549	0.967000	0.41034	0.850000	0.48378	2.540000	0.45727	1.240000	0.43803	-0.253000	0.11424	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	0	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-4.173617	1	0.170000	NM_182489			10	10		241	238	0		1			0	0	73	0		9.968605e-01	0	0	0	0	0	0	10	241
CNOT4	4850	broad.mit.edu	37	7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000315544.5	-	10	1547	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	CNOT4_ENST00000428680.2_Missense_Mutation_p.L420P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	423					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000315544.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1267-1269)cTg>cCg		CCR4-NOT transcription complex, subunit 4							134.0	135.0	135.0					7																	135079029		1979	4154	6133	SO:0001583	missense	4850	0	0					g.chr7:135079029A>G	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1268T>C	chr7.hg19:g.135079029A>G	ENSP00000326731:p.Leu423Pro	0					CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000428680.2_Missense_Mutation_p.L420P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron	p.L423P	NM_001190848.1	NP_001177777.1	1	2	3	2.000345	O95628	CNOT4_HUMAN		10	1547	-			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	1	1	hg19	c.1268T>C	CCDS55166.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105960	0.77096	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.997;0.997;0.997	D;D;D;D;D;D	0.78314	0.942;0.974;0.979;0.991;0.991;0.991	T	0.58487	-0.7628	10	0.31617	T	0.26	-6.5092	15.5295	0.75942	1.0:0.0:0.0:0.0	.	420;423;423;420;423;420	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	423;420;423;423;420;420;423	ENSP00000445508:L423P;ENSP00000388491:L420P;ENSP00000406777:L423P;ENSP00000354673:L420P;ENSP00000399108:L420P;ENSP00000326731:L423P	ENSP00000262563:L423P	L	-	2	0	0	CNOT4	134729569	134729569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_013316			82	80		394	386	1		1	1		0	0	94	0		1	9.998077e-01	0	13	0	49	0	82	394
CNOT4	4850	broad.mit.edu	37	7	135080489	135080489	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000315544.5	-	9	1305	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	CNOT4_ENST00000428680.2_Silent_p.R339R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	342					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000315544.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1024-1026)cgC>cgT		CCR4-NOT transcription complex, subunit 4							182.0	182.0	182.0					7																	135080489		1987	4151	6138	SO:0001819	synonymous_variant	4850	0	0					g.chr7:135080489G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1026C>T	chr7.hg19:g.135080489G>A		0					CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000428680.2_Silent_p.R339R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R	p.R342R	NM_001190848.1	NP_001177777.1	1	2	3	2.000345	O95628	CNOT4_HUMAN		9	1305	-			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	1	1	hg19	c.1026C>T	CCDS55166.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_013316			76	73		307	297	1		1	1		0	0	75	0		1	9.999703e-01	0	15	0	49	0	76	307
CNOT4	4850	broad.mit.edu	37	7	135095279	135095279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000315544.5	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000428680.2_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	269					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000315544.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				22						c.(805-807)ctG>ctA		CCR4-NOT transcription complex, subunit 4							128.0	127.0	128.0					7																	135095279		1867	4094	5961	SO:0001819	synonymous_variant	4850	0	0					g.chr7:135095279C>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.807G>A	chr7.hg19:g.135095279C>T		0					CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000428680.2_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L	p.L269L	NM_001190848.1	NP_001177777.1	1	2	3	2.000345	O95628	CNOT4_HUMAN		7	1086	-			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	1	1	hg19	c.807G>A	CCDS55166.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-19.999920	1	0.170000	NM_013316			55	55		346	338	1		1	1		0	0	73	0		1	9.988914e-01	0	14	0	52	0	55	346
NUP205	23165	broad.mit.edu	37	7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	214					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373																																						ENST00000285968.6	1.000000	0.370000	7.900000e-01	4.700000e-01	0.610000	0.637373	0.610000	0.590000																										0				93						c.(640-642)cGc>cAc		nucleoporin 205kDa							105.0	101.0	102.0					7																	135261869		2203	4300	6503	SO:0001583	missense	23165	0	0					g.chr7:135261869G>A	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.641G>A	chr7.hg19:g.135261869G>A	ENSP00000285968:p.Arg214His	0					NUP205_ENST00000440390.2_Intron	p.R214H	NM_015135.2	NP_055950	1	2	3	2.000345	Q92621	NU205_HUMAN		5	667	+			A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	1	1	hg19	c.641G>A	CCDS34759.1	0	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421505	0.83559	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15321	-1.0441	10	0.29301	T	0.29	-15.0997	19.6316	0.95708	0.0:0.0:1.0:0.0	.	214	Q92621	NU205_HUMAN	H	214	ENSP00000285968:R214H	ENSP00000285968:R214H	R	+	2	0	0	NUP205	134912409	134912409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-4.757260	1	0.170000				18	18		340	335	0		1	1		0	0	80	0		9.999813e-01	6.521345e-01	0	5	0	37	0	18	340
NUP205	23165	broad.mit.edu	37	7	135279294	135279294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408																																						ENST00000285968.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.e13-1		nucleoporin 205kDa							81.0	84.0	83.0					7																	135279294		2203	4300	6503	SO:0001630	splice_region_variant	23165	0	0					g.chr7:135279294G>T	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.1831-1G>T	chr7.hg19:g.135279294G>T		0					NUP205_ENST00000440390.2_Intron		NM_015135.2	NP_055950	1	2	3	2.000345	Q92621	NU205_HUMAN		13	1856	+			A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	1	1	hg19		CCDS34759.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189076	0.57909	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0836	0.93192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	NUP205	134929834	134929834	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1		2	2	2	0		0	0	87		87	84	1	2.060000	-3.134380	1	0.170000		Intron		73	73		305	299	1		1			0	0	87	0		1	0	0	0	0	0	0	73	305
NUP205	23165	broad.mit.edu	37	7	135285644	135285644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	767					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373																																						ENST00000285968.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				93						c.(2299-2301)gaG>gaA		nucleoporin 205kDa							155.0	152.0	153.0					7																	135285644		2203	4300	6503	SO:0001819	synonymous_variant	23165	0	0					g.chr7:135285644G>A	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.2301G>A	chr7.hg19:g.135285644G>A		0					NUP205_ENST00000440390.2_3'UTR	p.E767E	NM_015135.2	NP_055950	1	2	3	2.000345	Q92621	NU205_HUMAN		16	2327	+			A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	1	1	hg19	c.2301G>A	CCDS34759.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.967570	1	0.170000				51	49		310	306	1		1	1		0	0	61	0		1	9.822752e-01	0	2	0	39	0	51	310
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	rs540996642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463																																						ENST00000285968.6	1.000000	0.770000	1	9.200000e-01	0.990000	0.971211	0.990000	1.000000																										0				93						c.(3130-3132)aCg>aTg		nucleoporin 205kDa							99.0	94.0	96.0					7																	135292055		2203	4300	6503	SO:0001583	missense	23165	9	121412	42				g.chr7:135292055C>T	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.3131C>T	chr7.hg19:g.135292055C>T	ENSP00000285968:p.Thr1044Met	0						p.T1044M	NM_015135.2	NP_055950	1	2	3	2.000345	Q92621	NU205_HUMAN		22	3157	+			A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	1	1	hg19	c.3131C>T	CCDS34759.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	0	NUP205	134942595	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-11.166090	1	0.170000				33	32		326	322	1		1	1		0	0	59	0		1	9.594206e-01	0	14	0	40	0	33	326
SLC13A4	26266	broad.mit.edu	37	7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	433					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)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCCCAAAGCAGGGCTTCTT	0.458																																						ENST00000354042.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				24						c.(1297-1299)tGc>tAc		solute carrier family 13 (sodium/sulfate symporter), member 4							76.0	74.0	75.0					7																	135376316		2203	4300	6503	SO:0001583	missense	26266	0	0					g.chr7:135376316C>T	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.1298G>A	chr7.hg19:g.135376316C>T	ENSP00000297282:p.Cys433Tyr	0					C7orf73_ENST00000422968.1_Intron	p.C433Y	NM_012450.2	NP_036582.2	1	2	3	2.000345	Q9UKG4	S13A4_HUMAN		12	1987	-			A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	1	1	hg19	c.1298G>A	CCDS5840.1	1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073514	0.55646	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.69	4.8	0.61643	5.69	4.8	0.61643	.	0.065014	0.64402	D	0.000004	T	0.54303	0.1850	L	0.27053	0.805	0.49051	D	0.999741	P;P	0.46395	0.877;0.714	P;B	0.45232	0.474;0.34	T	0.52193	-0.8608	10	0.07175	T	0.84	-19.8065	14.4043	0.67071	0.0:0.8512:0.1488:0.0	.	302;433	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	433	ENSP00000297282:C433Y	ENSP00000297282:C433Y	C	-	2	0	0	SLC13A4	135026856	135026856	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.887000	0.56197	1.382000	0.46385	0.655000	0.94253	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-19.541100	1	0.170000	NM_012450			35	35		169	167	1		1	0		0	0	54	0		1	0	0	1	0	0	0	35	169
CHRM2	1129	broad.mit.edu	37	7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	106	Agonist binding. {ECO:0000305}.				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)			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)	GGACTATGTGGTCAGCAATGC	0.478																																						ENST00000445907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(316-318)Gtc>Atc		cholinergic receptor, muscarinic 2	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)						171.0	162.0	165.0					7																	136699928		2203	4300	6503	SO:0001583	missense	1129	0	0					g.chr7:136699928G>A		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.316G>A	chr7.hg19:g.136699928G>A	ENSP00000399745:p.Val106Ile	0					CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	p.V106I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	1	2	3	2.000345	P08172	ACM2_HUMAN		3	844	+			Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	1	1	hg19	c.316G>A	CCDS5843.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392604	0.83011	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.61	5.61	0.85477	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.058614	0.64402	D	0.000002	T	0.29817	0.0745	L	0.56340	1.77	0.80722	D	1	P	0.41420	0.749	P	0.45712	0.491	T	0.01349	-1.1378	10	0.17369	T	0.5	-4.778	19.7047	0.96068	0.0:0.0:1.0:0.0	.	106	P08172	ACM2_HUMAN	I	106	ENSP00000399745:V106I;ENSP00000415386:V106I;ENSP00000319984:V106I;ENSP00000380733:V106I;ENSP00000384937:V106I;ENSP00000384401:V106I	ENSP00000319984:V106I	V	+	1	0	0	CHRM2	136350468	136350468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1		2	2	2	0		0	0	155		155	155	1	2.060000	-20.000000	1	0.170000				117	114		557	546	1		1			0	0	155	0		1	0	0	0	0	0	0	117	557
CHRM2	1129	broad.mit.edu	37	7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	185					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)			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)	TCCAATGCTGCTGTCACCTTT	0.483																																						ENST00000445907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(553-555)gCt>gAt		cholinergic receptor, muscarinic 2	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)						99.0	89.0	93.0					7																	136700166		2203	4300	6503	SO:0001583	missense	1129	0	0					g.chr7:136700166C>A		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.554C>A	chr7.hg19:g.136700166C>A	ENSP00000399745:p.Ala185Asp	0					CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	p.A185D	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	1	2	3	2.000345	P08172	ACM2_HUMAN		3	1082	+			Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	1	1	hg19	c.554C>A	CCDS5843.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495260	0.64186	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	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	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.59220	-0.7495	10	0.32370	T	0.25	-22.3117	19.4315	0.94772	0.0:1.0:0.0:0.0	.	185	P08172	ACM2_HUMAN	D	185	ENSP00000399745:A185D;ENSP00000415386:A185D;ENSP00000319984:A185D;ENSP00000380733:A185D;ENSP00000384937:A185D;ENSP00000384401:A185D	ENSP00000319984:A185D	A	+	2	0	0	CHRM2	136350706	136350706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.600000	0.87896	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				81	78		391	383	1		1			0	0	86	0		1	0	0	0	0	0	0	81	391
CHRM2	1129	broad.mit.edu	37	7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	312					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)			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)	TTCCACTTCCCTGGGCCATTC	0.463																																						ENST00000445907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(934-936)Ctg>Atg		cholinergic receptor, muscarinic 2	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)						90.0	92.0	91.0					7																	136700546		2203	4300	6503	SO:0001583	missense	1129	0	0					g.chr7:136700546C>A		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.934C>A	chr7.hg19:g.136700546C>A	ENSP00000399745:p.Leu312Met	0					CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	p.L312M	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	1	2	3	2.000345	P08172	ACM2_HUMAN		3	1462	+			Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	1	1	hg19	c.934C>A	CCDS5843.1	1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704479	0.15172	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	0.492	0.16872	5.4	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.571088	0.16953	N	0.192800	T	0.48021	0.1477	N	0.24115	0.695	0.23144	N	0.998226	P	0.38195	0.622	P	0.44359	0.447	T	0.37619	-0.9698	10	0.41790	T	0.15	-4.2629	5.6681	0.17707	0.0:0.5294:0.1257:0.3449	.	312	P08172	ACM2_HUMAN	M	312	ENSP00000399745:L312M;ENSP00000415386:L312M;ENSP00000319984:L312M;ENSP00000380733:L312M;ENSP00000384937:L312M;ENSP00000384401:L312M	ENSP00000319984:L312M	L	+	1	2	2	CHRM2	136351086	136351086	0.410000	0.25376	0.958000	0.39756	0.990000	0.78478	0.015000	0.13355	-0.191000	0.10448	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1		2	2	2	0		0	0	90		90	87	1	2.060000	-2.649368	1	0.170000				72	71		331	324	1		1			0	0	90	0		1	0	0	0	0	0	0	72	331
CHRM2	1129	broad.mit.edu	37	7	136700899	136700899	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	CHRM2_ENST00000397608.3_Silent_p.C429C|CHRM2_ENST00000453373.1_Silent_p.C429C|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.C429C|CHRM2_ENST00000320658.5_Silent_p.C429C|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	429	Agonist binding. {ECO:0000305}.				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)			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)	ACTGGCTTTGTTACATCAACA	0.438																																						ENST00000445907.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1285-1287)tgT>tgC		cholinergic receptor, muscarinic 2	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)						263.0	218.0	233.0					7																	136700899		2203	4300	6503	SO:0001819	synonymous_variant	1129	0	0					g.chr7:136700899T>C		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.1287T>C	chr7.hg19:g.136700899T>C		0					CHRM2_ENST00000397608.3_Silent_p.C429C|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|CHRM2_ENST00000453373.1_Silent_p.C429C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	p.C429C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	1	2	3	2.000345	P08172	ACM2_HUMAN		3	1815	+			Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	1	1	hg19	c.1287T>C	CCDS5843.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1		2	2	2	0		0	0	154		154	153	1	2.060000	-20.000000	1	0.170000				108	108		502	492	1		1			0	0	154	0		1	0	0	0	0	0	0	108	502
DGKI	9162	broad.mit.edu	37	7	137154342	137154342	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000288490.5	-	25	2451	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	DGKI_ENST00000453654.2_Silent_p.R517R|DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000424189.2_Silent_p.R820R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	817					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)			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						CTGAGAGAGCCCTGGGGAAGG	0.532																																						ENST00000288490.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999668	0.990000	1.000000																										0				84						c.(2449-2451)agG>agA		diacylglycerol kinase, iota							132.0	118.0	123.0					7																	137154342		2203	4300	6503	SO:0001819	synonymous_variant	9162	0	0					g.chr7:137154342C>T	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.2451G>A	chr7.hg19:g.137154342C>T		0					DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000453654.2_Silent_p.R517R	p.R817R	NM_004717.2	NP_004708.1	1	2	3	2.000345	O75912	DGKI_HUMAN		25	2451	-			A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	1	1	hg19	c.2451G>A	CCDS5845.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_004717			39	36		270	266	1		1	0		0	0	51	0		1	1.281425e-01	0	0	0	5	0	39	270
DGKI	9162	broad.mit.edu	37	7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000288490.5	-	14	1555	c.1555G>A	c.(1555-1557)Gta>Ata	p.V519I	DGKI_ENST00000453654.2_Missense_Mutation_p.V219I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000424189.2_Missense_Mutation_p.V519I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	519					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)			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						ACCTTACATACGCCATCTTCA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.0					ENST00000288490.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1555-1557)Gta>Ata		diacylglycerol kinase, iota							138.0	131.0	133.0					7																	137269963		2203	4300	6503	SO:0001583	missense	9162	4	121412	38				g.chr7:137269963C>T	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.1555G>A	chr7.hg19:g.137269963C>T	ENSP00000288490:p.Val519Ile	0					DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000453654.2_Missense_Mutation_p.V219I	p.V519I	NM_004717.2	NP_004708.1	1	2	3	2.000345	O75912	DGKI_HUMAN		14	1555	-			A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	1	1	hg19	c.1555G>A	CCDS5845.1	1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927886	0.52759	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.403557	0.24417	N	0.038709	T	0.26085	0.0636	N	0.14661	0.345	0.27813	N	0.942071	B;B	0.26318	0.004;0.146	B;B	0.12156	0.004;0.007	T	0.12218	-1.0556	10	0.35671	T	0.21	.	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	219;519	E9PFX6;O75912	.;DGKI_HUMAN	I	219;467;519;519;519	ENSP00000392161:V219I;ENSP00000288490:V519I;ENSP00000399131:V519I	ENSP00000288490:V519I	V	-	1	0	0	DGKI	136920503	136920503	0.983000	0.35010	0.997000	0.53966	0.995000	0.86356	1.830000	0.39131	2.885000	0.99019	0.655000	0.94253	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_004717			87	82		425	418	1		1	0		0	0	105	0		1	2.958710e-02	0	0	0	2	0	87	425
DGKI	9162	broad.mit.edu	37	7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000288490.5	-	7	816	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q272H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	272					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)			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						AGGAGAACTTTTGCTGGAAGC	0.443																																						ENST00000288490.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(814-816)caA>caC		diacylglycerol kinase, iota							172.0	166.0	168.0					7																	137308289		2203	4300	6503	SO:0001583	missense	9162	0	0					g.chr7:137308289T>G	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.816A>C	chr7.hg19:g.137308289T>G	ENSP00000288490:p.Gln272His	0					DGKI_ENST00000424189.2_Missense_Mutation_p.Q272H|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.2_5'UTR	p.Q272H	NM_004717.2	NP_004708.1	1	2	3	2.000345	O75912	DGKI_HUMAN		7	816	-			A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	1	1	hg19	c.816A>C	CCDS5845.1	1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848968	0.71603	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.36520	1.25;1.44	5.76	-1.13	0.09775	5.76	-1.13	0.09775	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.49640	1.575	0.54753	D	0.999988	P	0.45078	0.85	P	0.55391	0.775	T	0.23440	-1.0188	10	0.33141	T	0.24	.	12.5935	0.56454	0.0:0.6635:0.0:0.3365	.	272	O75912	DGKI_HUMAN	H	220;272;272;272	ENSP00000288490:Q272H;ENSP00000399131:Q272H	ENSP00000288490:Q272H	Q	-	3	2	2	DGKI	136958829	136958829	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.934000	0.28910	-0.128000	0.11641	0.533000	0.62120	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	1		2	2	2	0		0	0	147		147	146	1	2.060000	-20.000000	1	0.170000	NM_004717			109	102		492	482	1		1	0		0	0	147	0		1	3.352443e-02	0	0	0	2	0	109	492
CREB3L2	64764	broad.mit.edu	37	7	137565285	137565285	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565285T>G	ENST00000330387.6	-	12	1851	c.1500A>C	c.(1498-1500)aaA>aaC	p.K500N		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	500					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCCCTCCAGTTTGGCGCTGA	0.453			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6	1.000000	0.430000	1	6.300000e-01	0.900000	0.845840	0.900000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	64764	T	cAMP responsive element binding protein 3-like 2				M	M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				19						c.(1498-1500)aaA>aaC		cAMP responsive element binding protein 3-like 2							125.0	98.0	107.0					7																	137565285		2203	4300	6503	SO:0001583	missense	64764	0	0					g.chr7:137565285T>G	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.1500A>C	chr7.hg19:g.137565285T>G	ENSP00000329140:p.Lys500Asn	0						p.K500N	NM_194071.3	NP_919047.2	1	2	3	2.000345	Q70SY1	CR3L2_HUMAN		12	1851	-			Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	1	0	hg19	c.1500A>C	CCDS34760.1	1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346474	0.41599	.	.	ENSG00000182158	ENST00000330387	T	0.59772	0.24	5.3	1.52	0.23074	5.3	1.52	0.23074	.	0.481828	0.23433	N	0.048238	T	0.40196	0.1107	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11591	-1.0581	10	0.32370	T	0.25	-7.1005	5.0655	0.14580	0.0:0.1448:0.3077:0.5475	.	500	Q70SY1	CR3L2_HUMAN	N	500	ENSP00000329140:K500N	ENSP00000329140:K500N	K	-	3	2	2	CREB3L2	137215825	137215825	0.932000	0.31603	0.996000	0.52242	0.997000	0.91878	-0.355000	0.07671	0.292000	0.22492	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	0		2	2	2	0		0	0	35		35	35	1	2.060000	-12.847770	1	0.170000	NM_194071			8	7		101	96	0		1	1		0	0	35	0		9.877141e-01	9.948087e-01	0	9	0	117	0	8	101
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999819	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	64764	T	cAMP responsive element binding protein 3-like 2				M	M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				19						c.(1495-1497)Gcc>Acc		cAMP responsive element binding protein 3-like 2							124.0	97.0	106.0					7																	137565290		2203	4300	6503	SO:0001583	missense	64764	5	121412	31				g.chr7:137565290C>T	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.1495G>A	chr7.hg19:g.137565290C>T	ENSP00000329140:p.Ala499Thr	0						p.A499T	NM_194071.3	NP_919047.2	1	2	3	2.000345	Q70SY1	CR3L2_HUMAN		12	1846	-			Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	1	1	hg19	c.1495G>A	CCDS34760.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	0	CREB3L2	137215830	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-3.209811	1	0.170000	NM_194071			19	19		91	84	1		1	1		0	0	34	0		9.999907e-01	9.999999e-01	0	10	0	147	0	19	91
CREB3L2	64764	broad.mit.edu	37	7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	400					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	64764	T	cAMP responsive element binding protein 3-like 2				M	M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				19						c.(1198-1200)Ccc>Tcc		cAMP responsive element binding protein 3-like 2							81.0	73.0	76.0					7																	137569813		2203	4300	6503	SO:0001583	missense	64764	0	0					g.chr7:137569813G>A	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.1198C>T	chr7.hg19:g.137569813G>A	ENSP00000329140:p.Pro400Ser	0					CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	p.P400S	NM_194071.3	NP_919047.2	1	2	3	2.000345	Q70SY1	CR3L2_HUMAN		10	1549	-			Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	1	1	hg19	c.1198C>T	CCDS34760.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972067	0.74246	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.65916	0.16;-0.18	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.348076	0.30085	N	0.010452	T	0.64746	0.2626	L	0.55481	1.735	0.80722	D	1	B;B	0.30406	0.215;0.278	B;B	0.36335	0.104;0.222	T	0.61559	-0.7038	10	0.41790	T	0.15	-0.013	19.8786	0.96886	0.0:0.0:1.0:0.0	.	400;400	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	400	ENSP00000329140:P400S;ENSP00000403550:P400S	ENSP00000329140:P400S	P	-	1	0	0	CREB3L2	137220353	137220353	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_194071			68	65		291	286	1		1	1		0	0	76	0		1	1	0	6	0	124	0	68	291
CREB3L2	64764	broad.mit.edu	37	7	137612945	137612945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000330387.6	-	2	621	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000456390.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	90					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999901	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	64764	T	cAMP responsive element binding protein 3-like 2				M	M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				19						c.(268-270)cgG>cgA		cAMP responsive element binding protein 3-like 2							52.0	41.0	45.0					7																	137612945		2202	4300	6502	SO:0001819	synonymous_variant	64764	0	0					g.chr7:137612945C>T	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.270G>A	chr7.hg19:g.137612945C>T		0					CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R|CREB3L2_ENST00000456390.1_Silent_p.R90R	p.R90R	NM_194071.3	NP_919047.2	1	2	3	2.000345	Q70SY1	CR3L2_HUMAN		2	621	-			Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	0	1	hg19	c.270G>A	CCDS34760.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938089	0.34189	.	.	ENSG00000182158	ENST00000420629	T	0.57595	0.39	5.42	1.3	0.21679	5.42	1.3	0.21679	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	6	0.87932	D	0	-8.1521	6.3579	0.21412	0.0:0.3595:0.3711:0.2694	.	.	.	.	E	24	ENSP00000402889:G24E	ENSP00000402889:G24E	G	-	2	0	0	CREB3L2	137263485	137263485	0.645000	0.27286	0.996000	0.52242	0.990000	0.78478	-0.387000	0.07361	0.251000	0.21505	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_194071			17	17		68	68	0		1	1		0	0	19	0		9.999826e-01	1	0	4	0	151	0	17	68
TRIM24	8805	broad.mit.edu	37	7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	426					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)			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						TTTAGTAATCGAGGATAAAGA	0.363																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1276-1278)Gag>Aag		tripartite motif containing 24							70.0	74.0	73.0					7																	138239457		2203	4300	6503	SO:0001583	missense	8805	4	121410	33				g.chr7:138239457G>A	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.1276G>A	chr7.hg19:g.138239457G>A	ENSP00000340507:p.Glu426Lys	0					TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR	p.E426K			1	2	3	2.000345	O15164	TIF1A_HUMAN		9	1491	+			A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	1	1	hg19	c.1276G>A	CCDS5847.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733746	0.89482	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79845	-1.31;-1.23	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.74881	2.28	0.52501	D	0.999958	P;D	0.64830	0.945;0.994	P;D	0.67725	0.637;0.953	D	0.88917	0.3363	10	0.48119	T	0.1	-21.5728	18.8417	0.92186	0.0:0.0:1.0:0.0	.	426;426	O15164;O15164-2	TIF1A_HUMAN;.	K	426;337;426;384	ENSP00000340507:E426K;ENSP00000390829:E426K	ENSP00000340507:E426K	E	+	1	0	0	TRIM24	137889997	137889997	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.716000	0.74702	2.544000	0.85801	0.557000	0.71058	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-2.768488	1	0.170000	NM_015905			78	76		382	376	1		1	1		0	0	84	0		1	9.973809e-01	0	17	0	29	0	78	382
TRIM24	8805	broad.mit.edu	37	7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	469					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)			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						AGCTCAATTACGGCTCCAGCA	0.502																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4	1.000000	0.200000	4.600000e-01	2.600000e-01	0.340000	0.388358	0.340000	0.330000																										0				40						c.(1405-1407)Cgg>Tgg		tripartite motif containing 24							113.0	113.0	113.0					7																	138239586		2203	4300	6503	SO:0001583	missense	8805	2	121412	35				g.chr7:138239586C>T	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.1405C>T	chr7.hg19:g.138239586C>T	ENSP00000340507:p.Arg469Trp	0					TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR	p.R469W			1	2	3	2.000345	O15164	TIF1A_HUMAN		9	1620	+			A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	1	1	hg19	c.1405C>T	CCDS5847.1	0	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544278	0.86022	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.18;-1.17	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.68593	2.085	0.58432	D	0.999996	P;D	0.89917	0.938;1.0	B;D	0.91635	0.384;0.999	D	0.87165	0.2217	10	0.52906	T	0.07	-13.5221	19.328	0.94270	0.0:1.0:0.0:0.0	.	469;469	O15164;O15164-2	TIF1A_HUMAN;.	W	469;380;469;427	ENSP00000340507:R469W;ENSP00000390829:R469W	ENSP00000340507:R469W	R	+	1	2	2	TRIM24	137890126	137890126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.661000	0.90470	0.557000	0.71058	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-2.928334	1	0.170000	NM_015905			17	15		581	569	1		1	1		0	0	136	0		9.999578e-01	6.308472e-01	0	9	0	64	0	17	581
ATP6V0A4	50617	broad.mit.edu	37	7	138394541	138394541	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368																																						ENST00000310018.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996389	0.990000	1.000000																										0				36						c.e21-1		ATPase, H+ transporting, lysosomal V0 subunit a4							67.0	68.0	68.0					7																	138394541		2203	4300	6503	SO:0001630	splice_region_variant	50617	0	0					g.chr7:138394541C>A	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.2258-1G>T	chr7.hg19:g.138394541C>A		0					ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site		NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	1	2	3	2.000345	Q9HBG4	VPP4_HUMAN		21	2540	-			A4D1R4|A8KA80|Q32M47	Splice_Site	SNP	ENST00000310018.2	1	1	hg19		CCDS5849.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841343	0.91197	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ATP6V0A4	138045081	138045081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-2.966611	1	0.170000	NM_020632	Intron		53	52		459	450	1		1			0	0	107	0		1	0	0	0	0	0	0	53	459
KIAA1549	57670	broad.mit.edu	37	7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000422774.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S1775F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F			Q9HCM3	K1549_HUMAN	KIAA1549	1775						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999181	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(5323-5325)tCt>tTt		KIAA1549							18.0	22.0	20.0					7																	138529190		2013	4164	6177	SO:0001583	missense	57670	0	0					g.chr7:138529190G>A		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.5324C>T	chr7.hg19:g.138529190G>A	ENSP00000416040:p.Ser1775Phe	0					KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S1775F	p.S1775F			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		18	5372	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	1	1	hg19	c.5324C>T	CCDS56513.1	1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837312	0.71373	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30448	1.61;1.62;1.53	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.380247	0.28577	N	0.014859	T	0.51143	0.1657	L	0.56769	1.78	0.46437	D	0.999045	D;P;D;P	0.67145	0.994;0.514;0.996;0.514	P;B;D;B	0.65874	0.87;0.351;0.939;0.351	T	0.53272	-0.8462	10	0.87932	D	0	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	1775;559;1775;559	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	F	1775;1725;1775	ENSP00000406661:S1775F;ENSP00000242365:S1725F;ENSP00000416040:S1775F	ENSP00000242365:S1725F	S	-	2	0	0	KIAA1549	138179730	138179730	1.000000	0.71417	0.859000	0.33776	0.484000	0.33280	7.599000	0.82757	2.558000	0.86282	0.650000	0.86243	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				16	16		84	82	1		1	1		0	0	24	0		9.999515e-01	3.301190e-01	0	2	0	5	0	16	84
KIAA1549	57670	broad.mit.edu	37	7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000422774.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1771S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S			Q9HCM3	K1549_HUMAN	KIAA1549	1771						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998910	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(5311-5313)Ggt>Agt		KIAA1549							17.0	21.0	20.0					7																	138529203		2033	4171	6204	SO:0001583	missense	57670	1	120478	29				g.chr7:138529203C>T		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.5311G>A	chr7.hg19:g.138529203C>T	ENSP00000416040:p.Gly1771Ser	0					KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1771S	p.G1771S			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		18	5359	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	1	1	hg19	c.5311G>A	CCDS56513.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533405	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	2.0;2.01;1.99	5.56	3.77	0.43336	5.56	3.77	0.43336	.	0.502498	0.23180	N	0.051023	T	0.11922	0.0290	L	0.41710	1.295	0.36620	D	0.875696	P;B;P;B	0.51449	0.909;0.057;0.945;0.057	B;B;B;B	0.34489	0.09;0.007;0.184;0.007	T	0.14952	-1.0454	10	0.07175	T	0.84	.	10.9538	0.47345	0.0:0.8478:0.0:0.1522	.	1771;555;1771;555	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1771;1721;1771	ENSP00000406661:G1771S;ENSP00000242365:G1721S;ENSP00000416040:G1771S	ENSP00000242365:G1721S	G	-	1	0	0	KIAA1549	138179743	138179743	0.200000	0.23398	0.220000	0.23810	0.830000	0.47004	1.338000	0.33873	0.736000	0.32559	0.650000	0.86243	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				15	15		79	77	1		1	1		0	0	23	0		9.999040e-01	2.651492e-01	0	2	0	4	0	15	79
KIAA1549	57670	broad.mit.edu	37	7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000422774.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1152T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T			Q9HCM3	K1549_HUMAN	KIAA1549	1152						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(3454-3456)Gca>Aca		KIAA1549							72.0	72.0	72.0					7																	138591671		2003	4162	6165	SO:0001583	missense	57670	1	120918	30				g.chr7:138591671C>T		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.3454G>A	chr7.hg19:g.138591671C>T	ENSP00000416040:p.Ala1152Thr	0					KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1152T	p.A1152T			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		6	3502	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	1	1	hg19	c.3454G>A	CCDS56513.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309989	0.81247	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69561	-0.4;-0.38;-0.41	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85152	0.0987	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1152;1152	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1152;1102;1152	ENSP00000406661:A1152T;ENSP00000242365:A1102T;ENSP00000416040:A1152T	ENSP00000242365:A1102T	A	-	1	0	0	KIAA1549	138242211	138242211	1.000000	0.71417	0.785000	0.31869	0.310000	0.27922	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.969689	1	0.170000				45	45		222	217	1		1	1		0	0	67	0		1	5.271187e-01	0	3	0	7	0	45	222
KIAA1549	57670	broad.mit.edu	37	7	138602176	138602176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000422774.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000440172.1_Silent_p.A732A|KIAA1549_ENST00000242365.4_Silent_p.A682A			Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(2194-2196)gcG>gcA		KIAA1549							66.0	64.0	64.0					7																	138602176		1961	4156	6117	SO:0001819	synonymous_variant	57670	9	120870	39				g.chr7:138602176C>T		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.2196G>A	chr7.hg19:g.138602176C>T		0					KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000440172.1_Silent_p.A732A	p.A732A			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		2	2244	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	1	1	hg19	c.2196G>A	CCDS56513.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000				51	52		217	213	1		1	0		0	0	70	0		1	5.950482e-01	0	0	0	10	0	51	217
KIAA1549	57670	broad.mit.edu	37	7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000422774.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S515N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N			Q9HCM3	K1549_HUMAN	KIAA1549	515	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(1543-1545)aGt>aAt		KIAA1549							32.0	34.0	33.0					7																	138602828		2012	4181	6193	SO:0001583	missense	57670	0	0					g.chr7:138602828C>T		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.1544G>A	chr7.hg19:g.138602828C>T	ENSP00000416040:p.Ser515Asn	0					KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S515N	p.S515N			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		2	1592	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	1	1	hg19	c.1544G>A	CCDS56513.1	1	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871075	0.17322	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25749	1.78;1.79;1.78	4.05	2.15	0.27550	4.05	2.15	0.27550	.	0.739620	0.12433	N	0.469386	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.35971	0.107;0.215	T	0.16630	-1.0396	10	0.38643	T	0.18	.	2.382	0.04357	0.3473:0.3871:0.1687:0.097	.	515;515	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	N	515;465;515	ENSP00000406661:S515N;ENSP00000242365:S465N;ENSP00000416040:S515N	ENSP00000242365:S465N	S	-	2	0	0	KIAA1549	138253368	138253368	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.137000	0.31479	0.336000	0.23639	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				22	22		87	85	1		1	1		0	0	28	0		9.999994e-01	2.790506e-01	0	2	0	3	0	22	87
KIAA1549	57670	broad.mit.edu	37	7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000422774.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000440172.1_Missense_Mutation_p.G247D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D			Q9HCM3	K1549_HUMAN	KIAA1549	247						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(739-741)gGc>gAc		KIAA1549							100.0	102.0	101.0					7																	138603632		2035	4178	6213	SO:0001583	missense	57670	0	0					g.chr7:138603632C>T		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.740G>A	chr7.hg19:g.138603632C>T	ENSP00000416040:p.Gly247Asp	0					KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G247D	p.G247D			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		2	788	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	1	1	hg19	c.740G>A	CCDS56513.1	1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415553	0.62511	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27402	1.67;1.67;1.67	4.89	3.0	0.34707	4.89	3.0	0.34707	.	0.691511	0.13271	N	0.400557	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.30572	0.055;0.117	T	0.12889	-1.0530	10	0.33940	T	0.23	.	12.5247	0.56079	0.0:0.6777:0.3223:0.0	.	247;247	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	247;197;247	ENSP00000406661:G247D;ENSP00000242365:G197D;ENSP00000416040:G247D	ENSP00000242365:G197D	G	-	2	0	0	KIAA1549	138254172	138254172	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.710000	0.25748	0.602000	0.29896	-0.305000	0.09177	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1		15	2	2	0		0	1	103		103	102	1	2.060000	-20.000000	1	0.170000				78	78		333	331	1		1	1		0	0	103	0		1	2.446075e-01	0	2	0	3	0	78	333
KIAA1549	57670	broad.mit.edu	37	7	138603904	138603904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000422774.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000440172.1_Silent_p.E156E|KIAA1549_ENST00000242365.4_Silent_p.E106E			Q9HCM3	K1549_HUMAN	KIAA1549	156						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000422774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q34	7q34	57670	O	KIAA1549				O	O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				7						c.(466-468)gaG>gaA		KIAA1549							230.0	221.0	224.0					7																	138603904		2010	4185	6195	SO:0001819	synonymous_variant	57670	0	0					g.chr7:138603904C>T		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.468G>A	chr7.hg19:g.138603904C>T		0					KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000440172.1_Silent_p.E156E	p.E156E			1	2	3	2.000345	Q9HCM3	K1549_HUMAN		2	516	-			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	1	1	hg19	c.468G>A	CCDS56513.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000				128	127		732	724	0		1	1		0	0	147	0		1	3.983226e-01	0	6	0	3	0	128	732
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	G	A	rs368597211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378																																						ENST00000275766.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				10						c.(892-894)tgC>tgT		zinc finger CCCH-type, antiviral 1-like							89.0	88.0	89.0					7																	138711299		2203	4300	6503	SO:0001819	synonymous_variant	92092	1	121412	34				g.chr7:138711299G>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.894C>T	chr7.hg19:g.138711299G>A		0						p.C298C	NM_080660.3	NP_542391.2	1	2	3	2.000345	Q96H79	ZCCHL_HUMAN		5	905	-			Q8WUD9	Silent	SNP	ENST00000275766.1	1	1	hg19	c.894C>T	CCDS5850.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.321569	1	0.170000	NM_080660			36	36		223	220	1		1	0		0	0	45	0		1	4.231151e-01	0	1	0	9	0	36	223
ZC3HAV1	56829	broad.mit.edu	37	7	138749734	138749734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	628	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408																																						ENST00000242351.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1882-1884)cgG>cgA		zinc finger CCCH-type, antiviral 1							91.0	90.0	90.0					7																	138749734		2203	4300	6503	SO:0001819	synonymous_variant	56829	0	0					g.chr7:138749734C>T	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.1884G>A	chr7.hg19:g.138749734C>T		0					ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	p.R628R	NM_020119.3	NP_064504.2	1	2	3	2.000345	Q7Z2W4	ZCCHV_HUMAN		8	2200	-			A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	1	1	hg19	c.1884G>A	CCDS5851.1	1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241096	0.05906	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	1.45	0.22620	4.32	1.45	0.22620	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	4.121	0.10106	0.1632:0.5872:0.158:0.0916	.	.	.	.	K	193	.	.	E	-	1	0	0	ZC3HAV1	138400274	138400274	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	0.189000	0.20188	0.644000	0.83932	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_020119			54	53		252	247	1		1	1		0	0	70	0		1	9.999882e-01	0	19	0	62	0	54	252
ZC3HAV1	56829	broad.mit.edu	37	7	138768566	138768566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	219	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)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493																																						ENST00000242351.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(655-657)tgC>tgT		zinc finger CCCH-type, antiviral 1							81.0	67.0	72.0					7																	138768566		2203	4300	6503	SO:0001819	synonymous_variant	56829	0	0					g.chr7:138768566G>A	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.657C>T	chr7.hg19:g.138768566G>A		0					ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	p.C219C	NM_020119.3	NP_064504.2	1	2	3	2.000345	Q7Z2W4	ZCCHV_HUMAN		3	973	-			A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	1	1	hg19	c.657C>T	CCDS5851.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_020119			55	51		278	266	1		1	1		0	0	64	0		1	9.998433e-01	0	19	0	49	0	55	278
TTC26	79989	broad.mit.edu	37	7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000464848.1	+	2	176	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	32					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACTAGAGGAGCTACTTTCAA	0.418																																						ENST00000464848.1	1.000000	0.290000	7.100000e-01	3.900000e-01	0.530000	0.562211	0.530000	0.500000																										0				24						c.(94-96)gaG>gaT		tetratricopeptide repeat domain 26							81.0	75.0	77.0					7																	138819493		2203	4300	6503	SO:0001583	missense	79989	0	0					g.chr7:138819493G>T	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.96G>T	chr7.hg19:g.138819493G>T	ENSP00000419279:p.Glu32Asp	0					TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D	p.E32D			1	2	3	2.000345	A0AVF1	TTC26_HUMAN		2	176	+			A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	1	1	hg19	c.96G>T	CCDS5852.1	0	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296372	0.10622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.41065	1.01;1.03;1.06;1.01;1.02	6.06	1.94	0.25998	6.06	1.94	0.25998	.	0.112837	0.64402	N	0.000013	T	0.12390	0.0301	N	0.01874	-0.695	0.38404	D	0.945736	B;B;B;B;B;B;B	0.15473	0.0;0.0;0.001;0.0;0.0;0.013;0.0	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.0;0.001;0.01;0.001	T	0.28776	-1.0033	10	0.02654	T	1	.	6.0868	0.19973	0.0697:0.2421:0.5559:0.1323	.	32;32;32;32;32;32;32	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	D	32	ENSP00000410655:E32D;ENSP00000418788:E32D;ENSP00000419178:E32D;ENSP00000419279:E32D;ENSP00000339135:E32D	ENSP00000339135:E32D	E	+	3	2	2	TTC26	138470033	138470033	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.889000	0.28282	0.404000	0.25506	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-14.646290	1	0.170000	NM_024926			13	13		289	284	0		1	1		0	0	52	0		9.995122e-01	3.192832e-01	0	2	0	23	0	13	289
TTC26	79989	broad.mit.edu	37	7	138824680	138824680	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000464848.1	+	4	359	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000430935.1_Silent_p.V93V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	93					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383																																						ENST00000464848.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(277-279)gtC>gtT		tetratricopeptide repeat domain 26							125.0	115.0	119.0					7																	138824680		2203	4300	6503	SO:0001819	synonymous_variant	79989	0	0					g.chr7:138824680C>T	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.279C>T	chr7.hg19:g.138824680C>T		0					TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Silent_p.V93V	p.V93V			1	2	3	2.000345	A0AVF1	TTC26_HUMAN		4	359	+			A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	1	1	hg19	c.279C>T	CCDS5852.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_024926			68	68		309	307	1		1	1		0	0	84	0		1	8.594542e-01	0	4	0	14	0	68	309
UBN2	254048	broad.mit.edu	37	7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	195						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373																																						ENST00000473989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(583-585)Cgg>Tgg		ubinuclein 2							107.0	107.0	107.0					7																	138936723		1828	4088	5916	SO:0001583	missense	254048	1	120792	35				g.chr7:138936723C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.583C>T	chr7.hg19:g.138936723C>T	ENSP00000418648:p.Arg195Trp	0					UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	p.R195W	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		3	583	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	1	1	hg19	c.583C>T	CCDS43655.2	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096847	0.76870	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.39229	1.11;1.09	5.14	4.24	0.50183	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.68317	2.08	0.49687	D	0.999814	D	0.89917	1.0	D	0.77557	0.99	T	0.65861	-0.6065	10	0.87932	D	0	-9.6286	13.501	0.61454	0.2833:0.7167:0.0:0.0	.	195	Q6ZU65	UBN2_HUMAN	W	18;195;112	ENSP00000418648:R195W;ENSP00000288561:R112W	ENSP00000288561:R112W	R	+	1	2	2	UBN2	138587263	138587263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.599000	0.46231	1.344000	0.45657	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-2.718840	1	0.170000	NM_173569			65	63		366	362	1		1	1		0	0	84	0		1	4.080319e-01	0	2	0	7	0	65	366
UBN2	254048	broad.mit.edu	37	7	138936758	138936758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388																																						ENST00000473989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(616-618)ggC>ggA		ubinuclein 2							124.0	122.0	123.0					7																	138936758		1841	4078	5919	SO:0001819	synonymous_variant	254048	0	0					g.chr7:138936758C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.618C>A	chr7.hg19:g.138936758C>A		0					UBN2_ENST00000288561.8_Silent_p.G123G	p.G206G	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		3	618	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	1	1	hg19	c.618C>A	CCDS43655.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	0		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_173569			69	68		416	407	1		1	1		0	0	78	0		1	6.876205e-01	0	4	0	12	0	69	416
UBN2	254048	broad.mit.edu	37	7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	359						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468																																						ENST00000473989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1075-1077)Cca>Tca		ubinuclein 2							73.0	74.0	74.0					7																	138946167		1872	4104	5976	SO:0001583	missense	254048	0	0					g.chr7:138946167C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1075C>T	chr7.hg19:g.138946167C>T	ENSP00000418648:p.Pro359Ser	0					UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	p.P359S	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		6	1075	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	1	1	hg19	c.1075C>T	CCDS43655.2	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076166	0.36662	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.19394	2.15;2.15	6.08	5.2	0.72013	6.08	5.2	0.72013	.	0.433070	0.27134	N	0.020763	T	0.19604	0.0471	L	0.52759	1.655	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	9	.	.	.	-2.9185	10.8085	0.46531	0.0:0.8016:0.1305:0.0679	.	359	Q6ZU65	UBN2_HUMAN	S	359;276	ENSP00000418648:P359S;ENSP00000288561:P276S	.	P	+	1	0	0	UBN2	138596707	138596707	0.074000	0.21230	0.044000	0.18714	0.311000	0.27955	1.710000	0.37920	1.593000	0.50029	0.655000	0.94253	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-2.889645	1	0.170000	NM_173569			61	61		322	319	1		1	1		0	0	74	0		1	3.771574e-01	0	2	0	6	0	61	322
UBN2	254048	broad.mit.edu	37	7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	885	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483																																						ENST00000473989.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.994422	0.990000	1.000000																										0				42						c.(2653-2655)aGc>aAc		ubinuclein 2							86.0	85.0	85.0					7																	138968305		1952	4153	6105	SO:0001583	missense	254048	0	0					g.chr7:138968305G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2654G>A	chr7.hg19:g.138968305G>A	ENSP00000418648:p.Ser885Asn	0					UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	p.S885N	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		15	2654	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	1	1	hg19	c.2654G>A	CCDS43655.2	1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289146	0.40494	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35789	1.33;1.29	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.190170	0.49305	D	0.000144	T	0.29976	0.0750	L	0.43152	1.355	0.33106	D	0.539887	B	0.32245	0.361	B	0.24155	0.051	T	0.40813	-0.9543	10	0.37606	T	0.19	-3.5989	14.6869	0.69055	0.0:0.0:0.8548:0.1451	.	885	Q6ZU65	UBN2_HUMAN	N	885;802	ENSP00000418648:S885N;ENSP00000288561:S802N	ENSP00000288561:S802N	S	+	2	0	0	UBN2	138618845	138618845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.846000	0.55888	2.775000	0.95449	0.467000	0.42956	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.318794	1	0.170000	NM_173569			48	48		423	413	0		1	1		0	0	59	0		1	5.654604e-01	0	3	0	15	0	48	423
UBN2	254048	broad.mit.edu	37	7	138968549	138968549	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	966	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACTCTCCTGTTCCTCCTCAC	0.498																																						ENST00000473989.3	1.000000	0.170000	5.000000e-01	2.500000e-01	0.350000	0.398353	0.350000	0.330000																										0				42						c.(2896-2898)tgT>tgC		ubinuclein 2							104.0	100.0	101.0					7																	138968549		1933	4126	6059	SO:0001819	synonymous_variant	254048	0	0					g.chr7:138968549T>C	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2898T>C	chr7.hg19:g.138968549T>C		0					UBN2_ENST00000288561.8_Silent_p.C883C	p.C966C	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		15	2898	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	1	1	hg19	c.2898T>C	CCDS43655.2	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-3.530390	1	0.170000	NM_173569			10	10		342	333	0		1	0		0	0	67	0		9.965627e-01	1.190966e-01	0	1	0	18	0	10	342
UBN2	254048	broad.mit.edu	37	7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1307						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438																																						ENST00000473989.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997638	0.990000	1.000000																										0				42						c.(3919-3921)caG>caT		ubinuclein 2							80.0	83.0	82.0					7																	138978654		2082	4225	6307	SO:0001583	missense	254048	0	0					g.chr7:138978654G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3921G>T	chr7.hg19:g.138978654G>T	ENSP00000418648:p.Gln1307His	0					UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	p.Q1307H	NM_173569.3	NP_775840.3	1	2	3	2.000345	Q6ZU65	UBN2_HUMAN		17	3921	+			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	1	1	hg19	c.3921G>T	CCDS43655.2	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275816	0.59649	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.33216	1.42;1.44	5.86	4.08	0.47627	5.86	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.17082	0.46	0.44123	D	0.996905	D	0.62365	0.991	P	0.53185	0.72	T	0.02026	-1.1227	10	0.07990	T	0.79	-10.5282	12.7516	0.57312	0.1324:0.0:0.8676:0.0	.	1307	Q6ZU65	UBN2_HUMAN	H	1307;1224	ENSP00000418648:Q1307H;ENSP00000288561:Q1224H	ENSP00000288561:Q1224H	Q	+	3	2	2	UBN2	138629194	138629194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	0.949000	0.37715	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_173569			25	25		179	176	1		1	1		0	0	66	0		9.999999e-01	5.360726e-01	0	6	0	8	0	25	179
KLRG2	346689	broad.mit.edu	37	7	139168360	139168360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	ENST00000340940.4	-	1	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	10						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTGGCCTCCGGGCGCAGC	0.711																																						ENST00000340940.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999392	0.990000	1.000000																										0				6						c.(28-30)gGa>gAa		killer cell lectin-like receptor subfamily G, member 2							5.0	6.0	6.0					7																	139168360		1761	3749	5510	SO:0001583	missense	346689	0	0					g.chr7:139168360C>T	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.29G>A	chr7.hg19:g.139168360C>T	ENSP00000339356:p.Gly10Glu	0					KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	p.G10E	NM_198508.2	NP_940910.1	1	2	3	2.000345	A4D1S0	KLRG2_HUMAN		1	98	-	Melanoma(164;0.233)		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	0	1	hg19	c.29G>A	CCDS5854.1	1	.	.	.	.	.	.	.	.	.	.	C	6.107	0.388050	0.11581	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.58797	3.38;0.31	3.01	-6.02	0.02192	3.01	-6.02	0.02192	.	.	.	.	.	T	0.25717	0.0626	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.33292	-0.9874	9	0.02654	T	1	0.0	4.7501	0.13056	0.0:0.2197:0.3042:0.476	.	10;10	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	E	10	ENSP00000339356:G10E;ENSP00000376759:G10E	ENSP00000339356:G10E	G	-	2	0	0	KLRG2	138818900	138818900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	-1.513000	0.01789	-0.680000	0.03767	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_198508			15	15		72	69	0		1			0	0	12	0		9.998981e-01	0	0	0	0	0	0	15	72
CLEC2L	154790	broad.mit.edu	37	7	139226862	139226862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	176	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552																																						ENST00000422142.2	1.000000	0.650000	1	9.300000e-01	0.990000	0.964766	0.990000	1.000000																										0				5						c.(526-528)ccG>ccA		C-type lectin domain family 2, member L							54.0	62.0	59.0					7																	139226862		1974	4163	6137	SO:0001819	synonymous_variant	154790	0	0					g.chr7:139226862G>A	AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"""C-type lectin domain containing"""	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.528G>A	chr7.hg19:g.139226862G>A		0						p.P176P	NM_001080511.2	NP_001073980.2	1	2	3	2.000345	P0C7M8	CLC2L_HUMAN		4	600	+	Melanoma(164;0.233)			Silent	SNP	ENST00000422142.2	0	1	hg19	c.528G>A	CCDS47724.1	1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684991	0.14973	.	.	ENSG00000236279	ENST00000521281	.	.	.	4.44	-8.89	0.00785	4.44	-8.89	0.00785	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.32012	N	0.601904	.	.	.	.	.	.	T	0.11131	-1.0600	4	.	.	.	-10.2005	2.878	0.05638	0.5044:0.0892:0.2281:0.1784	.	.	.	.	Q	100	.	.	R	+	2	0	0	CLEC2L	138877402	138877402	0.007000	0.16637	0.247000	0.24249	0.869000	0.49853	-2.660000	0.00851	-2.867000	0.00324	-1.166000	0.01754	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-6.986711	1	0.170000	NM_001080511			9	9		74	73	1		1			0	0	20	0		9.947986e-01	0	0	0	0	0	0	9	74
HIPK2	28996	broad.mit.edu	37	7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	781	Interaction with CTBP1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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 transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557																																						ENST00000406875.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(2341-2343)caG>caT		homeodomain interacting protein kinase 2							102.0	107.0	105.0					7																	139285255		2143	4243	6386	SO:0001583	missense	28996	0	0					g.chr7:139285255C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2343G>T	chr7.hg19:g.139285255C>A	ENSP00000385571:p.Gln781His	0					HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	p.Q781H	NM_022740.4	NP_073577.3	1	2	3	2.000345	Q9H2X6	HIPK2_HUMAN		11	2437	-	Melanoma(164;0.205)		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	1	1	hg19	c.2343G>T		1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553352	0.45487	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27720	1.65;1.65;1.65	4.84	0.716	0.18191	4.84	0.716	0.18191	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.40005	D	0.975215	D;D	0.63046	0.992;0.988	D;D	0.74674	0.976;0.984	T	0.41752	-0.9491	8	0.49607	T	0.09	.	7.4575	0.27274	0.0:0.6539:0.1212:0.2249	.	781;754	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	781;754;781	ENSP00000385571:Q781H;ENSP00000413724:Q754H;ENSP00000343108:Q781H	ENSP00000343108:Q781H	Q	-	3	2	2	HIPK2	138935795	138935795	1.000000	0.71417	0.999000	0.59377	0.460000	0.32559	1.702000	0.37836	0.258000	0.21686	-0.157000	0.13467	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_022740			48	47		245	239	1		1	1		0	0	68	0		1	8.925953e-01	0	2	0	20	0	48	245
HIPK2	28996	broad.mit.edu	37	7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	643	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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 transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587																																						ENST00000406875.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999330	0.990000	1.000000																										0				43						c.(1927-1929)caG>caT		homeodomain interacting protein kinase 2							45.0	52.0	50.0					7																	139299093		1961	4144	6105	SO:0001583	missense	28996	0	0					g.chr7:139299093C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1929G>T	chr7.hg19:g.139299093C>A	ENSP00000385571:p.Gln643His	0					HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	p.Q643H	NM_022740.4	NP_073577.3	1	2	3	2.000345	Q9H2X6	HIPK2_HUMAN		8	2023	-	Melanoma(164;0.205)		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	1	1	hg19	c.1929G>T		1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360598	0.61403	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55760	0.5;0.57;0.61	5.48	3.65	0.41850	5.48	3.65	0.41850	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.45150	D	0.998168	P;D	0.64830	0.855;0.994	P;P	0.62740	0.459;0.906	T	0.59118	-0.7514	8	0.26408	T	0.33	.	11.2298	0.48905	0.0:0.8506:0.0:0.1494	.	643;616	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	643;616;643	ENSP00000385571:Q643H;ENSP00000413724:Q616H;ENSP00000343108:Q643H	ENSP00000343108:Q643H	Q	-	3	2	2	HIPK2	138949633	138949633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	0.770000	0.33336	0.563000	0.77884	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_022740			17	17		90	88	1		1	1		0	0	26	0		9.999754e-01	9.756044e-01	0	5	0	31	0	17	90
ETV1	2115	broad.mit.edu	37	7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000430479.1	-	12	1719	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	351					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)		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						AATAAAATGAGAATTTGAAGG	0.433			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000430479.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999793	0.990000	1.000000				Dom	yes			Dom	yes		7	7p22	7p22	2115	T	ets variant gene 1				"""M, E"""	M, E	EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3		Ewing sarcoma, prostate	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				31						c.(1051-1053)tCt>tTt		ets variant 1							61.0	62.0	61.0					7																	13946113		1884	4125	6009	SO:0001583	missense	2115	0	0					g.chr7:13946113G>A		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.1052C>T	chr7.hg19:g.13946113G>A	ENSP00000405327:p.Ser351Phe	0					ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F	p.S351F	NM_004956.4	NP_004947.2	1	2	3	2.000345	P50549	ETV1_HUMAN		12	1719	-			A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	0	1	hg19	c.1052C>T	CCDS55088.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778141	0.90195	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;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;0.43	5.9	5.9	0.94986	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;0.998;0.998;0.998;0.997	D;P;D;D;D;D;D	0.83275	0.989;0.905;0.972;0.992;0.993;0.996;0.961	T	0.75950	-0.3137	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	339;333;365;293;248;311;351	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	351;333;333;293;248;328;365;311;351;333	ENSP00000405327:S351F;ENSP00000242066:S333F;ENSP00000340853:S333F;ENSP00000411626:S293F;ENSP00000382293:S248F;ENSP00000385381:S328F;ENSP00000384085:S365F;ENSP00000384138:S311F;ENSP00000385551:S351F;ENSP00000385686:S333F	ENSP00000242066:S333F	S	-	2	0	0	ETV1	13912638	13912638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.793000	0.96121	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_004956			16	16		68	64	0		1	0		0	0	8	0		9.999455e-01	9.993830e-01	0	0	0	58	0	16	68
HIPK2	28996	broad.mit.edu	37	7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	128	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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 transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542																																						ENST00000406875.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997144	0.990000	1.000000																										0				43						c.(382-384)Aaa>Caa		homeodomain interacting protein kinase 2							102.0	84.0	90.0					7																	139416452		1568	3582	5150	SO:0001583	missense	28996	0	0					g.chr7:139416452T>G	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.382A>C	chr7.hg19:g.139416452T>G	ENSP00000385571:p.Lys128Gln	0					HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	p.K128Q	NM_022740.4	NP_073577.3	1	2	3	2.000345	Q9H2X6	HIPK2_HUMAN		2	476	-	Melanoma(164;0.205)		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	1	1	hg19	c.382A>C		1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959497	0.74016	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51817	0.69;0.72;0.7	5.28	5.28	0.74379	5.28	5.28	0.74379	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.44254	D	0.997109	P;P	0.39665	0.682;0.59	B;B	0.33690	0.115;0.168	T	0.27839	-1.0062	8	0.39692	T	0.17	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	128;128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	128	ENSP00000385571:K128Q;ENSP00000413724:K128Q;ENSP00000343108:K128Q	ENSP00000343108:K128Q	K	-	1	0	0	HIPK2	139062938	139062938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.346000	0.65992	1.987000	0.57996	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_022740			23	23		164	162	1		1	0		0	0	35	0		9.999995e-01	9.616703e-01	0	1	0	40	0	23	164
TBXAS1	6916	broad.mit.edu	37	7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000336425.5	+	11	969	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	194				A -> P (in Ref. 2; AAA60617/AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/ AAF99272/AAF99273/AAF99274/AAF99275/ AAF99276/AAF99277/AAF99278/AAF99279 and 10; AAA36742). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|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)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCCAGCGTCGCCTTTGGCAC	0.567																																						ENST00000336425.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(580-582)Gcc>Acc		thromboxane A synthase 1 (platelet)	Ridogrel(DB01207)|Sulfasalazine(DB00795)						98.0	99.0	99.0					7																	139655298		2203	4300	6503	SO:0001583	missense	6916	3	121412	41				g.chr7:139655298G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.580G>A	chr7.hg19:g.139655298G>A	ENSP00000338087:p.Ala194Thr	0					TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T	p.A194T			1	2	3	2.000345	P24557	THAS_HUMAN		11	969	+	Melanoma(164;0.0142)		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	1	1	hg19	c.580G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604960	0.66445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.79	4.9	0.64082	5.79	4.9	0.64082	.	0.052582	0.85682	D	0.000000	D	0.84520	0.5490	M	0.89414	3.03	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	0.991;0.982;0.998;1.0;0.991;0.998;0.998	D	0.87738	0.2583	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:0.8662:0.1338	.	175;241;146;127;195;195;194	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	127;195;194;241;195;195;194;240;194	ENSP00000388736:A127T;ENSP00000263552:A195T;ENSP00000338087:A194T;ENSP00000389414:A241T;ENSP00000392361:A195T;ENSP00000392702:A195T;ENSP00000402536:A194T;ENSP00000411274:A240T;ENSP00000411326:A194T	ENSP00000263552:A195T	A	+	1	0	0	TBXAS1	139301767	139301767	1.000000	0.71417	0.887000	0.34795	0.021000	0.10359	8.723000	0.91458	1.428000	0.47296	-0.182000	0.12963	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1	1	0	1		25	6	2	1		1	2	126		126	126	1	2.060000	-20.000000	1	0.170000				126	124		573	566	1		1	0		1	0	126	0		1	9.999995e-01	0	3	0	142	0	126	573
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537																																						ENST00000263549.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1591-1593)Cga>Tga		poly (ADP-ribose) polymerase family, member 12							97.0	88.0	91.0					7																	139727113		2203	4300	6503	SO:0001587	stop_gained	64761	0	0					g.chr7:139727113G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1591C>T	chr7.hg19:g.139727113G>A	ENSP00000263549:p.Arg531*	0						p.R531*	NM_022750.2	NP_073587.1	1	2	3	2.000345	Q9H0J9	PAR12_HUMAN		10	2464	-	Melanoma(164;0.0142)		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	0	1	hg19	c.1591C>T	CCDS5857.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	2	PARP12	139373582	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.137273	1	0.170000	NM_022750			65	64		272	268	1		1	1		0	0	82	0		1	1	0	2	0	168	0	65	272
KDM7A	80853	broad.mit.edu	37	7	139829450	139829450	+	Silent	SNP	G	G	A	rs368815114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		134					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)			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)					TTATTTCATCGGCACTAAGGA	0.328																																						ENST00000397560.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				22						c.(400-402)gcC>gcT				G		1,3665		0,1,1832	87.0	79.0	81.0		402	2.7	1.0	7		81	0,8176		0,0,4088	no	coding-synonymous	JHDM1D	NM_030647.1		0,1,5920	AA,AG,GG		0.0,0.0273,0.0084		134/942	139829450	1,11841	1833	4088	5921	SO:0001819	synonymous_variant	0	3	120798	35				g.chr7:139829450G>A																												ENST00000397560.2:c.402C>T	chr7.hg19:g.139829450G>A		0					JHDM1D_ENST00000006967.5_Silent_p.A134A	p.A134A	NM_030647.1	NP_085150.1	1	2	3	2.000345	Q6ZMT4	KDM7A_HUMAN		4	499	-	Melanoma(164;0.0142)		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	1	1	hg19	c.402C>T	CCDS43658.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.996458	1	0.170000				34	34		181	179	1		1	1		0	0	55	0		1	7.742584e-01	0	5	0	12	0	34	181
SLC37A3	84255	broad.mit.edu	37	7	140051074	140051074	+	Splice_Site	SNP	G	G	A	rs558974013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000340308.3_Splice_Site_p.P294L|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	294					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GGTCCTTACCGGTATGACTCC	0.478													G|||	9	0.00179712	0.0	0.0	5008	,	,		20238	0.0		0.0	False		,,,				2504	0.0092				Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9	1.000000	0.910000	1	9.900000e-01	0.990000	0.995315	0.990000	1.000000																										0				24						c.(880-882)cCg>cTg		solute carrier family 37, member 3							116.0	93.0	101.0					7																	140051074		2203	4300	6503	SO:0001630	splice_region_variant	84255	144	121412	49				g.chr7:140051074G>A	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.882+1C>T	chr7.hg19:g.140051074G>A		0					SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L|SLC37A3_ENST00000340308.3_Splice_Site_p.P294L	p.P294L	NM_207113.1	NP_996996.1	1	2	3	2.000345	Q8NCC5	SPX3_HUMAN		9	1084	-	Melanoma(164;0.0142)		Q6PIU7|Q86SS4|Q9BQG7	Splice_Site	SNP	ENST00000326232.9	1	0	hg19	c.881C>T	CCDS5859.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.104485|2.104485	0.37145|0.37145	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.9|4.9	2.36|2.36	0.29203|0.29203	4.9|4.9	2.36|2.36	0.29203|0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.232813|.	0.46442|.	N|.	0.000296|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.003;0.009;0.003|.	B;B;B|.	0.15052|.	0.005;0.012;0.009|.	T|T	0.08659|0.08659	-1.0711|-1.0711	10|5	0.33141|.	T|.	0.24|.	-48.9586|-48.9586	4.9445|4.9445	0.13982|0.13982	0.5043:0.0:0.4957:0.0|0.5043:0.0:0.4957:0.0	.|.	294;294;294|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	L|C	294|73	ENSP00000343358:P294L;ENSP00000397481:P294L;ENSP00000321498:P294L|.	ENSP00000321498:P294L|.	P|R	-|-	2|1	0|0	0|0	SLC37A3|SLC37A3	139697543|139697543	139697543|139697543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.871000|1.871000	0.39539|0.39539	1.024000|1.024000	0.39682|0.39682	0.650000|0.650000	0.86243|0.86243	CCG|CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-2.690432	1	0.170000	NM_032295	Missense_Mutation		30	30		240	236	1		1	1		0	0	56	0		1	9.977582e-01	0	2	0	76	0	30	240
RAB19	401409	broad.mit.edu	37	7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000356407.3	+	2	307	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_ENST00000275874.5_Missense_Mutation_p.R127H|RAB19_ENST00000537763.1_Missense_Mutation_p.R80H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	80					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16060	0.0		0.0	False		,,,				2504	0.0					ENST00000356407.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(238-240)cGc>cAc		RAB19, member RAS oncogene family		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	123.0	101.0	108.0		239	4.7	1.0	7	dbSNP_134	108	0,8600		0,0,4300	yes	missense	RAB19	NM_001008749.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	80/218	140111711	3,13003	2203	4300	6503	SO:0001583	missense	401409	16	121412	43				g.chr7:140111711G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.239G>A	chr7.hg19:g.140111711G>A	ENSP00000348778:p.Arg80His	0					RAB19_ENST00000275874.5_Missense_Mutation_p.R127H|RAB19_ENST00000537763.1_Missense_Mutation_p.R80H	p.R80H			1	2	3	2.000345	A4D1S5	RAB19_HUMAN		2	307	+	Melanoma(164;0.0142)		A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	1	1	hg19	c.239G>A	CCDS34762.2	1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.254546	0.80135	6.81E-4	0.0	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	4.68	0.58851	5.59	4.68	0.58851	Small GTP-binding protein domain (1);	0.098409	0.64402	D	0.000001	T	0.82139	0.4972	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.50378	0.639	D	0.84581	0.0661	10	0.87932	D	0	.	13.6217	0.62140	0.0775:0.0:0.9225:0.0	.	80	A4D1S5	RAB19_HUMAN	H	80;127;80;80	ENSP00000420782:R80H;ENSP00000275874:R127H;ENSP00000440167:R80H;ENSP00000348778:R80H	ENSP00000275874:R127H	R	+	2	0	0	RAB19	139758180	139758180	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.678000	0.68153	1.300000	0.44818	0.491000	0.48974	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.151672	1	0.170000				59	58		315	311	1		1	1		0	0	74	0		1	3.725781e-01	0	3	0	5	0	59	315
MKRN1	23608	broad.mit.edu	37	7	140156610	140156610	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000255977.2	-	5	1052	c.828C>T	c.(826-828)agC>agT	p.S276S	MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000480552.1_Missense_Mutation_p.A60V|MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000443720.2_Silent_p.S276S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	276					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCATGTCCTTGCTGCGCTGCA	0.542																																						ENST00000255977.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				16						c.(826-828)agC>agT		makorin ring finger protein 1							75.0	61.0	66.0					7																	140156610		2203	4300	6503	SO:0001819	synonymous_variant	23608	1	121412	29				g.chr7:140156610G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.828C>T	chr7.hg19:g.140156610G>A		0					MKRN1_ENST00000480552.1_Missense_Mutation_p.A60V|MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S	p.S276S	NM_013446.3	NP_038474.2	1	2	3	2.000345	Q9UHC7	MKRN1_HUMAN		5	1052	-	Melanoma(164;0.00956)		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	1	1	hg19	c.828C>T	CCDS5860.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000133606	ENST00000480552	.	.	.	5.11	-4.25	0.03766	5.11	-4.25	0.03766	.	.	.	.	.	T	0.64746	0.2626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65569	-0.6136	5	0.37606	T	0.19	.	14.1562	0.65419	0.5958:0.0:0.4042:0.0	.	.	.	.	V	60	.	ENSP00000419894:A60V	A	-	2	0	0	MKRN1	139803079	139803079	0.199000	0.23386	0.951000	0.38953	0.999000	0.98932	-0.268000	0.08607	-0.801000	0.04427	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_013446			36	35		190	186	1		1	1		0	0	50	0		1	1	0	111	0	303	0	36	190
DENND2A	27147	broad.mit.edu	37	7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S|DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	30					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)			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)					TGGGCAAGGGTTCTGAACACC	0.522																																						ENST00000275884.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(88-90)aAc>aGc		DENN/MADD domain containing 2A							124.0	116.0	119.0					7																	140302109		1955	4161	6116	SO:0001583	missense	27147	0	0					g.chr7:140302109T>C	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.89A>G	chr7.hg19:g.140302109T>C	ENSP00000275884:p.Asn30Ser	0					DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S	p.N30S			1	2	3	2.000345	Q9ULE3	DEN2A_HUMAN		2	506	-	Melanoma(164;0.00956)		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	1	1	hg19	c.89A>G	CCDS43659.1	1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324022	0.24080	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.91	-2.35	0.06684	4.91	-2.35	0.06684	.	0.760646	0.11806	N	0.527668	T	0.60958	0.2309	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.007;0.002	T	0.42292	-0.9460	10	0.18276	T	0.48	-8.5843	5.9459	0.19219	0.0:0.2146:0.371:0.4144	.	30;30	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	30	ENSP00000275884:N30S;ENSP00000442245:N30S;ENSP00000419654:N30S;ENSP00000419464:N30S;ENSP00000418844:N30S;ENSP00000418088:N30S	ENSP00000275884:N30S	N	-	2	0	0	DENND2A	139948578	139948578	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.537000	0.06128	-0.572000	0.06006	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_015689			69	68		344	336	1		1	0		0	0	87	0		1	9.002614e-01	0	0	0	22	0	69	344
ADCK2	90956	broad.mit.edu	37	7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	255	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557																																						ENST00000072869.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(763-765)gGa>gAa		aarF domain containing kinase 2							55.0	62.0	60.0					7																	140373894		2203	4300	6503	SO:0001583	missense	90956	0	0					g.chr7:140373894G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.764G>A	chr7.hg19:g.140373894G>A	ENSP00000072869:p.Gly255Glu	0					ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	p.G255E	NM_052853.3	NP_443085.2	1	2	3	2.000345	Q7Z695	ADCK2_HUMAN		1	942	+	Melanoma(164;0.00956)		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	1	1	hg19	c.764G>A	CCDS5861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554702|2.554702	0.45487|0.45487	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.11604|.	3.12;2.76|.	3.72|3.72	1.83|1.83	0.25207|0.25207	3.72|3.72	1.83|1.83	0.25207|0.25207	.|.	0.286988|.	0.30085|.	N|.	0.010442|.	T|.	0.40398|.	0.1115|.	L|L	0.54323|0.54323	1.7|1.7	0.27893|0.27893	N|N	0.939245|0.939245	P;P|.	0.41313|.	0.745;0.745|.	B;B|.	0.39935|.	0.314;0.314|.	T|.	0.31586|.	-0.9938|.	10|.	0.49607|.	T|.	0.09|.	-1.8332|-1.8332	5.9138|5.9138	0.19043|0.19043	0.1818:0.1595:0.6587:0.0|0.1818:0.1595:0.6587:0.0	.|.	255;255|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	E|X	255|92	ENSP00000072869:G255E;ENSP00000420512:G255E|.	ENSP00000072869:G255E|.	G|W	+|+	2|3	0|0	0|0	ADCK2|ADCK2	140020363|140020363	140020363|140020363	0.742000|0.742000	0.28228|0.28228	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	1.173000|1.173000	0.31920|0.31920	0.240000|0.240000	0.21263|0.21263	0.561000|0.561000	0.74099|0.74099	GGA|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_052853			77	75		319	312	1		1	1		0	0	72	0		1	1	0	56	0	87	0	77	319
ADCK2	90956	broad.mit.edu	37	7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	444	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537																																						ENST00000072869.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1330-1332)Gca>Aca		aarF domain containing kinase 2							137.0	125.0	129.0					7																	140386814		2203	4300	6503	SO:0001583	missense	90956	0	0					g.chr7:140386814G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1330G>A	chr7.hg19:g.140386814G>A	ENSP00000072869:p.Ala444Thr	0					ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	p.A444T	NM_052853.3	NP_443085.2	1	2	3	2.000345	Q7Z695	ADCK2_HUMAN		5	1508	+	Melanoma(164;0.00956)		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	1	1	hg19	c.1330G>A	CCDS5861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255380|4.255380	0.80135|0.80135	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.21|5.21	5.21|5.21	0.72293|0.72293	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.147326|.	0.46442|.	D|.	0.000299|.	T|T	0.77857|0.77857	0.4193|0.4193	M|M	0.77313|0.77313	2.365|2.365	0.47276|0.47276	D|D	0.999379|0.999379	B;P|.	0.52842|.	0.397;0.956|.	B;P|.	0.52424|.	0.278;0.698|.	T|T	0.77710|0.77710	-0.2486|-0.2486	10|5	0.87932|.	D|.	0|.	-18.9077|-18.9077	18.9433|18.9433	0.92612|0.92612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	444;444|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	T|Y	444;444;84|281	ENSP00000072869:A444T;ENSP00000420512:A444T;ENSP00000420288:A84T|.	ENSP00000072869:A444T|.	A|C	+|+	1|2	0|0	0|0	ADCK2|ADCK2	140033283|140033283	140033283|140033283	1.000000|1.000000	0.71417|0.71417	0.350000|0.350000	0.25708|0.25708	0.098000|0.098000	0.18820|0.18820	9.218000|9.218000	0.95166|0.95166	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCA|TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-20.000000	1	0.170000	NM_052853			102	101		465	458	1		1	1		0	0	139	0		1	1	0	28	0	109	0	102	465
WEE2	494551	broad.mit.edu	37	7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	183					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393																																						ENST00000397541.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(547-549)gCt>gTt		WEE1 homolog 2 (S. pombe)							101.0	98.0	99.0					7																	141416030		1912	4104	6016	SO:0001583	missense	494551	0	0					g.chr7:141416030C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.548C>T	chr7.hg19:g.141416030C>T	ENSP00000380675:p.Ala183Val	0					WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	p.A183V	NM_001105558.1	NP_001099028.1	1	2	3	2.000345	P0C1S8	WEE2_HUMAN		3	954	+	Melanoma(164;0.0171)			Missense_Mutation	SNP	ENST00000397541.2	1	1	hg19	c.548C>T	CCDS43660.1	1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674752	0.47781	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.01	2.18	0.27775	4.01	2.18	0.27775	.	11.907100	0.01046	U	0.004386	T	0.29288	0.0729	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.18713	-1.0328	10	0.42905	T	0.14	.	6.6502	0.22957	0.0:0.78:0.0:0.22	.	183	P0C1S8	WEE2_HUMAN	V	183	ENSP00000380675:A183V	ENSP00000380675:A183V	A	+	2	0	0	WEE2	141062499	141062499	0.047000	0.20315	0.013000	0.15412	0.928000	0.56348	1.146000	0.31589	0.461000	0.27071	0.556000	0.70494	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1		2	2	2	0		0	0	76		76	71	1	2.060000	-20.000000	1	0.170000	NM_001105558			87	83		432	408	1		1			0	0	76	0		1	0	0	0	0	0	0	87	432
WEE2	494551	broad.mit.edu	37	7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408																																						ENST00000397541.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(820-822)Cgt>Tgt		WEE1 homolog 2 (S. pombe)							146.0	136.0	139.0					7																	141420796		1903	4116	6019	SO:0001583	missense	494551	5	120850	40				g.chr7:141420796C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.820C>T	chr7.hg19:g.141420796C>T	ENSP00000380675:p.Arg274Cys	0					WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	p.R274C	NM_001105558.1	NP_001099028.1	1	2	3	2.000345	P0C1S8	WEE2_HUMAN		5	1226	+	Melanoma(164;0.0171)			Missense_Mutation	SNP	ENST00000397541.2	1	1	hg19	c.820C>T	CCDS43660.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925600	0.92319	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.68181	0.88;-0.31	5.53	4.65	0.58169	5.53	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.84986	0.5594	H	0.95780	3.72	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	D	0.89509	0.3770	10	0.87932	D	0	.	14.5441	0.68015	0.0:0.9296:0.0:0.0704	.	274	P0C1S8	WEE2_HUMAN	C	274;49	ENSP00000380675:R274C;ENSP00000420388:R49C	ENSP00000380675:R274C	R	+	1	0	0	WEE2	141067265	141067265	1.000000	0.71417	0.776000	0.31678	0.983000	0.72400	4.624000	0.61254	1.342000	0.45619	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_001105558			111	111		546	539	1		1	0		0	0	112	0		1	0	0	0	0	1	0	111	546
WEE2	494551	broad.mit.edu	37	7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T	rs376582395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	563					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R563C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17977	0.0		0.0	False		,,,				2504	0.001					ENST00000397541.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R563C(1)	prostate(1)	31						c.(1687-1689)Cgt>Tgt		WEE1 homolog 2 (S. pombe)		C	CYS/ARG	1,3759		0,1,1879	126.0	115.0	119.0		1687	3.7	0.1	7		119	0,8230		0,0,4115	no	missense	WEE2	NM_001105558.1	180	0,1,5994	TT,TC,CC		0.0,0.0266,0.0083	benign	563/568	141430103	1,11989	1880	4115	5995	SO:0001583	missense	494551	6	120820	38				g.chr7:141430103C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1687C>T	chr7.hg19:g.141430103C>T	ENSP00000380675:p.Arg563Cys	0					WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	p.R563C	NM_001105558.1	NP_001099028.1	1	2	3	2.000345	P0C1S8	WEE2_HUMAN		12	2093	+	Melanoma(164;0.0171)			Missense_Mutation	SNP	ENST00000397541.2	1	1	hg19	c.1687C>T	CCDS43660.1	1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397862	0.25205	2.66E-4	0.0	ENSG00000214102	ENST00000397541	T	0.57595	0.39	4.59	3.71	0.42584	4.59	3.71	0.42584	.	0.700724	0.12953	U	0.425718	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.06716	-1.0811	10	0.54805	T	0.06	.	8.663	0.34103	0.0:0.8958:0.0:0.1042	.	563	P0C1S8	WEE2_HUMAN	C	563	ENSP00000380675:R563C	ENSP00000380675:R563C	R	+	1	0	0	WEE2	141076572	141076572	0.000000	0.05858	0.061000	0.19648	0.016000	0.09150	-0.330000	0.07925	1.280000	0.44463	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_001105558			53	52		180	177	1		1			0	0	41	0		1	0	0	0	0	0	0	53	180
TAS2R3	50831	broad.mit.edu	37	7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	112					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)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463																																						ENST00000247879.2	1.000000	0.700000	9.900000e-01	7.800000e-01	0.870000	0.880571	0.870000	1.000000																										0				14						c.(334-336)Gcc>Acc		taste receptor, type 2, member 3							257.0	235.0	242.0					7																	141464292		2203	4300	6503	SO:0001583	missense	50831	1	121412	34				g.chr7:141464292G>A	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.334G>A	chr7.hg19:g.141464292G>A	ENSP00000247879:p.Ala112Thr	0					SSBP1_ENST00000465582.1_Intron	p.A112T	NM_016943.2	NP_058639.1	1	2	3	2.000345	Q9NYW6	TA2R3_HUMAN		1	396	+	Melanoma(164;0.0171)		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	1	1	hg19	c.334G>A	CCDS5867.1	1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623043	0.66901	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	6.04	3.24	0.37175	6.04	3.24	0.37175	.	0.226757	0.36167	N	0.002748	T	0.55417	0.1919	M	0.83312	2.635	0.25831	N	0.984168	D	0.89917	1.0	D	0.97110	1.0	T	0.51403	-0.8710	10	0.87932	D	0	.	3.2114	0.06684	0.1503:0.1377:0.5698:0.1422	.	112	Q9NYW6	TA2R3_HUMAN	T	112	ENSP00000247879:A112T	ENSP00000247879:A112T	A	+	1	0	0	TAS2R3	141110761	141110761	0.973000	0.33851	0.427000	0.26684	0.740000	0.42216	1.678000	0.37586	0.422000	0.26005	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1	1	0	1		2	2	2	0		0	0	236		236	233	1	2.060000	-3.318794	1	0.170000				81	78		1017	999	0		1	0		0	0	236	0		1	0	0	1	0	0	0	81	1017
TAS2R38	5726	broad.mit.edu	37	7	141672501	141672501	+	Missense_Mutation	SNP	C	C	T	rs137902035	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672501C>T	ENST00000547270.1	-	1	1072	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	330					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCACAGTGTCCGGGAATCTGC	0.478													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11502	0.0		0.0	False		,,,				2504	0.0					ENST00000547270.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				21						c.(988-990)cGg>cAg		taste receptor, type 2, member 38		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	64.0	66.0		989	-1.2	0.0	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	TAS2R38	NM_176817.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	330/334	141672501	1,13005	2203	4300	6503	SO:0001583	missense	5726	7	121412	37				g.chr7:141672501C>T	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.989G>A	chr7.hg19:g.141672501C>T	ENSP00000448219:p.Arg330Gln	0						p.R330Q	NM_176817.4	NP_789787	1	2	3	2.000345	P59533	T2R38_HUMAN		1	1072	-	Melanoma(164;0.0171)		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	1	0	hg19	c.989G>A	CCDS34765.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.52	1.664386	0.29604	2.27E-4	0.0	ENSG00000257138	ENST00000547270	T	0.00816	5.66	4.86	-1.25	0.09405	4.86	-1.25	0.09405	.	5.277620	0.00559	N	0.000275	T	0.01287	0.0042	L	0.51422	1.61	0.09310	N	1	B	0.25955	0.138	B	0.12156	0.007	T	0.47497	-0.9113	10	0.72032	D	0.01	.	4.0766	0.09908	0.1648:0.374:0.0:0.4612	.	330	P59533	T2R38_HUMAN	Q	330	ENSP00000448219:R330Q	ENSP00000331291:R330Q	R	-	2	0	0	TAS2R38	141318970	141318970	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.070000	0.14573	-0.151000	0.11176	-0.136000	0.14681	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-2.841938	1	0.170000	NM_176817			47	45		306	297	1		1			0	0	71	0		1	0	0	0	0	0	0	47	306
TAS2R38	5726	broad.mit.edu	37	7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	212					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458																																						ENST00000547270.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(634-636)tCt>tAt		taste receptor, type 2, member 38							102.0	109.0	107.0					7																	141672855		2203	4300	6503	SO:0001583	missense	5726	0	0					g.chr7:141672855G>T	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.635C>A	chr7.hg19:g.141672855G>T	ENSP00000448219:p.Ser212Tyr	0						p.S212Y	NM_176817.4	NP_789787	1	2	3	2.000345	P59533	T2R38_HUMAN		1	718	-	Melanoma(164;0.0171)		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	1	1	hg19	c.635C>A	CCDS34765.1	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039484	0.35989	.	.	ENSG00000257138	ENST00000547270	T	0.46063	0.88	5.0	4.12	0.48240	5.0	4.12	0.48240	.	0.161646	0.41396	D	0.000884	T	0.63768	0.2539	M	0.83223	2.63	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57207	-0.7851	10	0.87932	D	0	.	9.2222	0.37384	0.0978:0.0:0.9022:0.0	.	212	P59533	T2R38_HUMAN	Y	212	ENSP00000448219:S212Y	ENSP00000331291:S212Y	S	-	2	0	0	TAS2R38	141319324	141319324	0.556000	0.26538	0.188000	0.23233	0.343000	0.28985	2.888000	0.48594	1.338000	0.45544	0.655000	0.94253	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_176817			50	48		256	252	1		1			0	0	91	0		1	0	0	0	0	0	0	50	256
TAS2R38	5726	broad.mit.edu	37	7	141673051	141673051	+	Missense_Mutation	SNP	T	T	C	rs530889921	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141673051T>C	ENST00000547270.1	-	1	522	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	147					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAAAGAATAATACCCAGGAGC	0.478													T|||	4	0.000798722	0.0	0.0	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0041					ENST00000547270.1	1.000000	0.150000	5.800000e-01	2.500000e-01	0.380000	0.430229	0.380000	0.350000																										0				21						c.(439-441)Att>Gtt		taste receptor, type 2, member 38							46.0	44.0	45.0					7																	141673051		2203	4300	6503	SO:0001583	missense	5726	22	121408	42				g.chr7:141673051T>C	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.439A>G	chr7.hg19:g.141673051T>C	ENSP00000448219:p.Ile147Val	0						p.I147V	NM_176817.4	NP_789787	1	2	3	2.000345	P59533	T2R38_HUMAN		1	522	-	Melanoma(164;0.0171)		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	0	1	hg19	c.439A>G	CCDS34765.1	0	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.407434	0.01155	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	4.7	-1.58	0.08479	4.7	-1.58	0.08479	.	2.377230	0.02256	N	0.067079	T	0.14013	0.0339	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23084	-1.0198	10	0.02654	T	1	.	3.9799	0.09490	0.1721:0.3174:0.0:0.5105	.	147	P59533	T2R38_HUMAN	V	147	ENSP00000448219:I147V	ENSP00000331291:I147V	I	-	1	0	0	TAS2R38	141319520	141319520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.260000	0.08708	-0.092000	0.12417	-0.408000	0.06270	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-8.549471	1	0.170000	NM_176817			6	6		196	194	0		1			0	0	39	0		9.645769e-01	0	0	0	0	0	0	6	196
PRSS1	5644	broad.mit.edu	37	7	142460283	142460283	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000311737.7	+	4	462	c.456C>T	c.(454-456)gcC>gcT	p.A152A	PRSS1_ENST00000486171.1_Splice_Site_p.A166A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	152	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCTCACAGCCGACTACCCAG	0.512																																						ENST00000311737.7	1.000000	0.330000	5.200000e-01	3.800000e-01	0.440000	0.477651	0.440000	0.440000																										0				38						c.(454-456)gcC>gcT		protease, serine, 1 (trypsin 1)	Aprotinin(DB06692)						250.0	251.0	251.0					7																	142460283		2203	4300	6503	SO:0001630	splice_region_variant	5644	5	121412	40				g.chr7:142460283C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.455-1C>T	chr7.hg19:g.142460283C>T		0					PRSS1_ENST00000486171.1_Splice_Site_p.A166A	p.A152A	NM_002769.4	NP_002760.1	1	2	3	2.000345	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	4	462	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Splice_Site	SNP	ENST00000311737.7	0	1	hg19	c.456C>T	CCDS5872.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	0	0	1		2	2	7	0		0	0	353		353	355	1	2.060000	-3.399467	1	0.170000		Silent		58	43		1498	1387	0		1	1	1	0	1	353	749		1	1	9.999999e-01	3	51	6740	905	58	1498
PRSS1	5644	broad.mit.edu	37	7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000311737.7	+	5	740	c.734C>T	c.(733-735)gCc>gTc	p.A245V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A259V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACCATAGCTGCCAATAGCTAA	0.488																																						ENST00000311737.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				38						c.(733-735)gCc>gTc		protease, serine, 1 (trypsin 1)	Aprotinin(DB06692)						78.0	79.0	79.0					7																	142460861		2203	4300	6503	SO:0001583	missense	5644	0	0					g.chr7:142460861C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.734C>T	chr7.hg19:g.142460861C>T	ENSP00000308720:p.Ala245Val	0					PRSS1_ENST00000486171.1_Missense_Mutation_p.A259V	p.A245V	NM_002769.4	NP_002760.1	1	2	3	2.000345	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	5	740	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	1	1	hg19	c.734C>T	CCDS5872.1	1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013962	0.19277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88818	-2.43;-2.42	3.18	2.24	0.28232	3.18	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);	0.152972	0.64402	D	0.000014	D	0.82674	0.5088	L	0.35644	1.08	0.38549	D	0.949409	B;B	0.18968	0.032;0.032	B;B	0.17098	0.017;0.015	T	0.78548	-0.2162	10	0.59425	D	0.04	.	11.2031	0.48754	0.0:0.8106:0.1894:0.0	.	259;245	E7EQ64;P07477	.;TRY1_HUMAN	V	259;245;235	ENSP00000417854:A259V;ENSP00000308720:A245V	ENSP00000308720:A245V	A	+	2	0	0	PRSS1	142140435	142140435	0.510000	0.26171	0.780000	0.31762	0.016000	0.09150	0.322000	0.19576	0.580000	0.29522	0.195000	0.17529	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	1	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-19.999910	1	0.170000				56	56		360	346	1		1	0	1	0	0	110	420		1	1	1	0	97	2902	389	56	360
EPHB6	2051	broad.mit.edu	37	7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	572	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637																																						ENST00000392957.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(1714-1716)gGg>gAg		EPH receptor B6							36.0	39.0	38.0					7																	142564791		2203	4300	6503	SO:0001583	missense	2051	0	0					g.chr7:142564791G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1715G>A	chr7.hg19:g.142564791G>A	ENSP00000376684:p.Gly572Glu	0					EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	p.G572E	NM_004445.3	NP_004436.3	1	2	3	2.000345	O15197	EPHB6_HUMAN		11	2502	+	Melanoma(164;0.059)		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	1	1	hg19	c.1715G>A	CCDS5873.2	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878146	0.91664	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53640	0.61;0.61;0.61	5.12	5.12	0.69794	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	T	0.66577	0.2803	M	0.62723	1.935	0.46458	D	0.999051	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.9	T	0.70132	-0.4956	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	572;295	O15197;O15197-2	EPHB6_HUMAN;.	E	572;572;295	ENSP00000376684:G572E;ENSP00000410789:G572E;ENSP00000409061:G295E	ENSP00000376684:G572E	G	+	2	0	0	EPHB6	142274913	142274913	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.395000	0.97266	2.368000	0.80403	0.555000	0.69702	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1	1	0	1		2	2	2	0		0	0	60		60	57	1	2.060000	-3.041384	1	0.170000				71	71		305	300	1		1	1		0	0	60	0		1	9.913487e-01	0	2	0	32	0	71	305
EPHB6	2051	broad.mit.edu	37	7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642																																						ENST00000392957.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999645	0.990000	1.000000																										0				87						c.(2365-2367)tTt>tGt		EPH receptor B6							66.0	56.0	60.0					7																	142566809		2203	4300	6503	SO:0001583	missense	2051	0	0					g.chr7:142566809T>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2366T>G	chr7.hg19:g.142566809T>G	ENSP00000376684:p.Phe789Cys	0					EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	p.F789C	NM_004445.3	NP_004436.3	1	2	3	2.000345	O15197	EPHB6_HUMAN		16	3153	+	Melanoma(164;0.059)		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	1	1	hg19	c.2366T>G	CCDS5873.2	1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486867	0.44249	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82526	-1.62;-1.62;-1.62	5.56	4.45	0.53987	5.56	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144593	0.32533	N	0.005977	T	0.67192	0.2867	N	0.05199	-0.095	0.37223	D	0.905338	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.69165	-0.5217	10	0.66056	D	0.02	.	12.7526	0.57316	0.0:0.0:0.1672:0.8328	.	789;512	O15197;O15197-2	EPHB6_HUMAN;.	C	789;789;512	ENSP00000376684:F789C;ENSP00000410789:F789C;ENSP00000409061:F512C	ENSP00000376684:F789C	F	+	2	0	0	EPHB6	142276931	142276931	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.210000	0.58500	2.112000	0.64535	0.379000	0.24179	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				31	31		201	200	1		1	1		0	0	35	0		1	8.986872e-01	0	2	0	26	0	31	201
TRPV6	55503	broad.mit.edu	37	7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	469					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)			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)					AATCCTCGGGCGAAGTACATG	0.592																																						ENST00000359396.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1405-1407)Gcc>Acc		transient receptor potential cation channel, subfamily V, member 6							126.0	119.0	121.0					7																	142572291		2203	4300	6503	SO:0001583	missense	55503	0	0					g.chr7:142572291C>T	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.1405G>A	chr7.hg19:g.142572291C>T	ENSP00000352358:p.Ala469Thr	0					RP11-114L10.2_ENST00000438839.1_RNA	p.A469T	NM_018646.3	NP_061116	1	2	3	2.000345	Q9H1D0	TRPV6_HUMAN		11	1650	-	Melanoma(164;0.059)		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	1	1	hg19	c.1405G>A	CCDS5874.1	1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635558	0.67130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85955	-2.05;-2.05	4.32	3.43	0.39272	4.32	3.43	0.39272	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	L	0.35487	1.065	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	T	0.77239	-0.2661	10	0.10377	T	0.69	-24.1663	11.7795	0.52006	0.0:0.9133:0.0:0.0867	.	469	Q9H1D0	TRPV6_HUMAN	T	469;301;92	ENSP00000352358:A469T;ENSP00000411100:A92T	ENSP00000310825:A301T	A	-	1	0	0	TRPV6	142282413	142282413	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.616000	0.83018	1.175000	0.42826	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-3.144308	1	0.170000	NM_014274			69	67		389	383	1		1	1		0	0	109	0		1	9.981196e-01	0	6	0	49	0	69	389
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					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)			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)					TTCACAACAGCGATGTGCAGT	0.627																																						ENST00000359396.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				42						c.(370-372)Gct>Act		transient receptor potential cation channel, subfamily V, member 6							86.0	80.0	82.0					7																	142575012		2203	4300	6503	SO:0001583	missense	55503	1	121412	29				g.chr7:142575012C>T	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.370G>A	chr7.hg19:g.142575012C>T	ENSP00000352358:p.Ala124Thr	0					RP11-114L10.2_ENST00000438839.1_RNA	p.A124T	NM_018646.3	NP_061116	1	2	3	2.000345	Q9H1D0	TRPV6_HUMAN		4	615	-	Melanoma(164;0.059)		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	1	1	hg19	c.370G>A	CCDS5874.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227596	0.79576	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	D;T	0.81996	-1.56;-1.43	3.86	3.86	0.44501	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.053052	0.85682	D	0.000000	D	0.91942	0.7448	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.93893	0.7181	10	0.72032	D	0.01	-12.2989	14.9814	0.71313	0.0:1.0:0.0:0.0	.	124	Q9H1D0	TRPV6_HUMAN	T	124;51	ENSP00000352358:A124T;ENSP00000415917:A51T	ENSP00000352358:A124T	A	-	1	0	0	TRPV6	142285134	142285134	1.000000	0.71417	0.550000	0.28217	0.993000	0.82548	7.209000	0.77916	1.995000	0.58328	0.655000	0.94253	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-19.999960	1	0.170000	NM_014274			57	56		362	357	1		1	1		0	0	89	0		1	9.577543e-01	0	6	0	29	0	57	362
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522																																						ENST00000355265.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.991561	0.990000	1.000000																										0				60						c.(943-945)gaC>gaT		Kell blood group, metallo-endopeptidase							100.0	95.0	97.0					7																	142651023		2203	4300	6503	SO:0001819	synonymous_variant	3792	0	0					g.chr7:142651023G>A	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.945C>T	chr7.hg19:g.142651023G>A		0					KEL_ENST00000479768.2_5'UTR	p.D315D	NM_000420.2	NP_000411.1	1	2	3	2.000345	P23276	KELL_HUMAN		9	1419	-	Melanoma(164;0.059)		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	1	1	hg19	c.945C>T	CCDS34766.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	1	0	1		2	2	2	0		0	0	122		122	120	1	2.060000	-20.000000	1	0.170000	NM_000420			59	59		551	539	0		1	0		0	0	122	0		1	9.724163e-03	0	0	0	2	0	59	551
KEL	3792	broad.mit.edu	37	7	142655466	142655466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	150					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468																																						ENST00000355265.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998576	0.990000	1.000000																										0				60						c.(448-450)caG>caA		Kell blood group, metallo-endopeptidase							83.0	77.0	79.0					7																	142655466		2203	4300	6503	SO:0001819	synonymous_variant	3792	1	121412	33				g.chr7:142655466C>T	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.450G>A	chr7.hg19:g.142655466C>T		0					KEL_ENST00000479768.2_5'UTR	p.Q150Q	NM_000420.2	NP_000411.1	1	2	3	2.000345	P23276	KELL_HUMAN		5	924	-	Melanoma(164;0.059)		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	1	1	hg19	c.450G>A	CCDS34766.1	1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616103	0.14129	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.82	-11.6	0.00059	5.82	-11.6	0.00059	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.45015	D	0.998033	.	.	.	.	.	.	T	0.61212	-0.7108	4	.	.	.	-5.1862	10.7615	0.46268	0.0:0.5237:0.3217:0.1546	.	.	.	.	I	161	.	.	V	-	1	0	0	KEL	142365588	142365588	0.006000	0.16342	0.424000	0.26647	0.825000	0.46686	-1.360000	0.02600	-1.456000	0.01921	-0.225000	0.12378	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_000420			33	32		243	234	1		1	0		0	0	61	0		1	1.621062e-01	0	0	0	6	0	33	243
TAS2R40	259286	broad.mit.edu	37	7	142920107	142920107	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	312					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)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537																																						ENST00000408947.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(934-936)caC>caT		taste receptor, type 2, member 40							53.0	52.0	52.0					7																	142920107		1895	4136	6031	SO:0001819	synonymous_variant	259286	0	0					g.chr7:142920107C>T	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.936C>T	chr7.hg19:g.142920107C>T		0					AC073342.1_ENST00000595842.1_5'Flank	p.H312H	NM_176882.1	NP_795363.1	1	2	3	2.000345	P59535	T2R40_HUMAN		1	978	+	Melanoma(164;0.059)		A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	1	1	hg19	c.936C>T	CCDS43662.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				67	65		249	245	1		1			0	0	69	0		1	0	0	0	0	0	0	67	249
CASP2	835	broad.mit.edu	37	7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	171					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383																																						ENST00000310447.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(511-513)cCt>cAt		caspase 2, apoptosis-related cysteine peptidase							162.0	163.0	163.0					7																	142991359		2203	4300	6503	SO:0001583	missense	835	0	0					g.chr7:142991359C>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.512C>A	chr7.hg19:g.142991359C>A	ENSP00000312664:p.Pro171His	0					CASP2_ENST00000493642.1_3'UTR	p.P171H	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	1	2	3	2.000345	P42575	CASP2_HUMAN		5	753	+	Melanoma(164;0.059)		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	1	1	hg19	c.512C>A	CCDS5879.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583897	0.86748	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.02103	4.45	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.250574	0.43747	D	0.000528	T	0.09247	0.0228	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.01090	-1.1455	10	0.48119	T	0.1	.	18.246	0.89986	0.0:1.0:0.0:0.0	.	171	P42575	CASP2_HUMAN	H	171;140	ENSP00000312664:P171H	ENSP00000312664:P171H	P	+	2	0	0	CASP2	142701481	142701481	0.999000	0.42202	0.993000	0.49108	0.923000	0.55619	6.030000	0.70903	2.752000	0.94435	0.555000	0.69702	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_032982			91	89		442	436	1		1	1		0	0	117	0		1	9.955444e-01	0	14	0	28	0	91	442
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537																																						ENST00000310447.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				21						c.(1126-1128)Gcc>Acc		caspase 2, apoptosis-related cysteine peptidase							164.0	140.0	148.0					7																	143001775		2203	4300	6503	SO:0001583	missense	835	0	0					g.chr7:143001775G>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1126G>A	chr7.hg19:g.143001775G>A	ENSP00000312664:p.Ala376Thr	0					CASP2_ENST00000493642.1_3'UTR	p.A376T	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	1	2	3	2.000345	P42575	CASP2_HUMAN		10	1367	+	Melanoma(164;0.059)		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	1	1	hg19	c.1126G>A	CCDS5879.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	0	CASP2	142711897	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	1	0	1		2	2	2	0		0	0	142		142	138	1	2.060000	-20.000000	1	0.170000	NM_032982			68	68		467	461	1		1	1		0	0	142	0		1	9.990286e-01	0	12	0	60	0	68	467
FAM131B	9715	broad.mit.edu	37	7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A	rs534174916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582																																						ENST00000409408.1	1.000000	0.740000	1	8.300000e-01	0.930000	0.926151	0.930000	1.000000																										0				24						c.(928-930)Cgg>Tgg		family with sequence similarity 131, member B							172.0	152.0	159.0					7																	143053714		2203	4300	6503	SO:0001583	missense	9715	1	121412	37				g.chr7:143053714G>A	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.928C>T	chr7.hg19:g.143053714G>A	ENSP00000387017:p.Arg310Trp	0					FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W	p.R310W			1	2	3	2.000345	Q86XD5	F131B_HUMAN		6	2636	-	Melanoma(164;0.205)		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	1	1	hg19	c.928C>T	CCDS5882.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960051	0.74016	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.81	2.9	0.33743	5.81	2.9	0.33743	.	0.131595	0.52532	D	0.000072	T	0.60418	0.2267	M	0.61703	1.905	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.65681	-0.6109	10	0.87932	D	0	-22.6696	15.1848	0.72993	0.0:0.0:0.6325:0.3675	.	326;310	Q86XD5-2;Q86XD5	.;F131B_HUMAN	W	338;326;310;314;310;310	ENSP00000410603:R338W;ENSP00000386568:R326W;ENSP00000386984:R310W;ENSP00000387017:R310W;ENSP00000387147:R310W	ENSP00000387147:R310W	R	-	1	2	2	FAM131B	142763836	142763836	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.229000	0.51278	0.775000	0.33450	-0.169000	0.13324	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	1	0	1		2	2	2	0		0	0	187		187	185	1	2.060000	-2.920853	1	0.170000	NM_014690			80	80		934	905	0		1	0		0	0	187	0		1	6.428123e-03	0	0	0	2	0	80	934
ZYX	7791	broad.mit.edu	37	7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701																																						ENST00000322764.5	1.000000	0.480000	1	6.800000e-01	0.940000	0.871652	0.940000	1.000000																										0				17						c.(328-330)Gag>Tag		zyxin							18.0	20.0	20.0					7																	143079460		2203	4300	6503	SO:0001587	stop_gained	7791	0	0					g.chr7:143079460G>T	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.328G>T	chr7.hg19:g.143079460G>T	ENSP00000324422:p.Glu110*	0					ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	p.E110*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	1	2	3	2.000345	Q15942	ZYX_HUMAN		3	673	+	Melanoma(164;0.205)		A4D2G6|Q6I9S4	Nonsense_Mutation	SNP	ENST00000322764.5	0	1	hg19	c.328G>T	CCDS5883.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.639934	0.98406	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	.	.	.	3.41	2.47	0.30058	3.41	2.47	0.30058	.	1.454090	0.04456	N	0.373560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.4854	0.38926	0.0:0.0:0.7876:0.2124	.	.	.	.	X	110;79;110;109;54	.	ENSP00000324422:E110X	E	+	1	0	0	ZYX	142789582	142789582	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.334000	0.65923	0.558000	0.29135	0.561000	0.74099	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-15.138320	1	0.170000	NM_003461			10	10		120	116	0		1	1		0	0	34	0		9.967691e-01	9.999998e-01	0	6	0	493	0	10	120
ZYX	7791	broad.mit.edu	37	7	143079468	143079468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000449423.2_Silent_p.E56E|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	112					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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGAGGAGGAGATCTTCCCTT	0.706																																						ENST00000322764.5	1.000000	0.310000	1	4.700000e-01	0.690000	0.710219	0.690000	1.000000																										0				17						c.(334-336)gaG>gaA		zyxin							18.0	19.0	19.0					7																	143079468		2203	4297	6500	SO:0001819	synonymous_variant	7791	0	0					g.chr7:143079468G>A	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.336G>A	chr7.hg19:g.143079468G>A		0					ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	p.E112E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	1	2	3	2.000345	Q15942	ZYX_HUMAN		3	681	+	Melanoma(164;0.205)		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	1	1	hg19	c.336G>A	CCDS5883.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	1	0	0		2	2	2	0		0	0	32		32	32	1	2.060000	-11.071900	1	0.170000	NM_003461			7	7		119	117	0		1	1		0	0	32	0		9.804860e-01	9.999912e-01	0	38	0	520	0	7	119
ZYX	7791	broad.mit.edu	37	7	143085748	143085748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ZYX_ENST00000449423.2_Silent_p.Y350Y|EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000392910.2_Silent_p.Y280Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	437	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGGGCTGTTACACTGTGAGTC	0.657																																						ENST00000322764.5	1.000000	0.180000	4.900000e-01	2.500000e-01	0.350000	0.398025	0.350000	0.340000																										0				17						c.(1309-1311)taC>taT		zyxin							66.0	69.0	68.0					7																	143085748		2203	4300	6503	SO:0001819	synonymous_variant	7791	0	0					g.chr7:143085748C>T	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.1311C>T	chr7.hg19:g.143085748C>T		0					EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000449423.2_Silent_p.Y350Y|ZYX_ENST00000392910.2_Silent_p.Y280Y	p.Y437Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	1	2	3	2.000345	Q15942	ZYX_HUMAN		7	1656	+	Melanoma(164;0.205)		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	1	1	hg19	c.1311C>T	CCDS5883.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	0	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.531096	1	0.170000	NM_003461			11	11		374	369	0		1	1		0	0	73	0		9.982664e-01	9.999325e-01	0	4	0	630	0	11	374
EPHA1	2041	broad.mit.edu	37	7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	968	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)			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)				ATACTGCAAAGAATGCGCTTC	0.612																																						ENST00000275815.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				51						c.(2902-2904)Ctt>Att		EPH receptor A1							95.0	61.0	73.0					7																	143088579		2203	4300	6503	SO:0001583	missense	2041	0	0					g.chr7:143088579G>T	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.2902C>A	chr7.hg19:g.143088579G>T	ENSP00000275815:p.Leu968Ile	0					EPHA1_ENST00000458129.1_5'Flank	p.L968I	NM_005232.4	NP_005223.4	1	2	3	2.000345	P21709	EPHA1_HUMAN		18	2988	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	1	1	hg19	c.2902C>A	CCDS5884.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557575	0.65425	.	.	ENSG00000146904	ENST00000275815	T	0.57907	0.37	5.24	5.24	0.73138	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000084	T	0.60405	0.2266	L	0.49126	1.545	0.45025	D	0.99804	D	0.57571	0.98	P	0.55577	0.779	T	0.59648	-0.7415	10	0.48119	T	0.1	.	14.2692	0.66140	0.0729:0.0:0.9271:0.0	.	968	P21709	EPHA1_HUMAN	I	968	ENSP00000275815:L968I	ENSP00000275815:L968I	L	-	1	0	0	EPHA1	142798701	142798701	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.626000	0.46460	2.724000	0.93272	0.561000	0.74099	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000				33	31		152	150	1		1	1		0	0	30	0		1	9.993966e-01	0	18	0	38	0	33	152
EPHA1	2041	broad.mit.edu	37	7	143091949	143091949	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)				GAGTCAGGCCAAAGTCAGACA	0.512																																						ENST00000275815.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				51						c.(2302-2304)ttT>ttC		EPH receptor A1							127.0	116.0	120.0					7																	143091949		2203	4300	6503	SO:0001819	synonymous_variant	2041	0	0					g.chr7:143091949A>G	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.2304T>C	chr7.hg19:g.143091949A>G		0						p.F768F	NM_005232.4	NP_005223.4	1	2	3	2.000345	P21709	EPHA1_HUMAN		14	2390	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	1	1	hg19	c.2304T>C	CCDS5884.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-19.999960	1	0.170000				48	48		253	249	1		1	1		0	0	63	0		1	9.946991e-01	0	9	0	36	0	48	253
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.				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)			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)				CAGTGGCACCGTCCTACAGGC	0.657																																						ENST00000275815.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(781-783)Cgg>Tgg		EPH receptor A1		G	TRP/ARG	3,4403	4.2+/-10.8	0,3,2200	39.0	43.0	42.0		781	2.2	0.0	7	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHA1	NM_005232.4	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	261/977	143096798	4,13002	2203	4300	6503	SO:0001583	missense	2041	15	121404	39				g.chr7:143096798G>A	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.781C>T	chr7.hg19:g.143096798G>A	ENSP00000275815:p.Arg261Trp	0						p.R261W	NM_005232.4	NP_005223.4	1	2	3	2.000345	P21709	EPHA1_HUMAN		4	867	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	1	1	hg19	c.781C>T	CCDS5884.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288654	0.59976	6.81E-4	1.16E-4	ENSG00000146904	ENST00000275815	D	0.97430	-4.38	5.22	2.17	0.27698	5.22	2.17	0.27698	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.651298	0.14092	N	0.341931	D	0.96306	0.8795	M	0.78916	2.43	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	D	0.90797	0.4691	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.4721:0.5279	.	261	P21709	EPHA1_HUMAN	W	261	ENSP00000275815:R261W	ENSP00000275815:R261W	R	-	1	2	2	EPHA1	142806920	142806920	0.258000	0.24033	0.046000	0.18839	0.924000	0.55760	3.072000	0.50049	0.697000	0.31718	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.522924	1	0.170000				68	68		274	269	1		1	1		0	0	69	0		1	7.218962e-01	0	4	0	8	0	68	274
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	83	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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)				AGATCCAATTGGAGCGAAGCC	0.602																																						ENST00000275815.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(247-249)tcC>tcT		EPH receptor A1							154.0	145.0	148.0					7																	143098600		2203	4300	6503	SO:0001819	synonymous_variant	2041	0	0					g.chr7:143098600G>A	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.249C>T	chr7.hg19:g.143098600G>A		0						p.S83S	NM_005232.4	NP_005223.4	1	2	3	2.000345	P21709	EPHA1_HUMAN		3	335	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	1	1	hg19	c.249C>T	CCDS5884.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1		2	2	2	0		0	0	207		207	204	1	2.060000	-3.347333	1	0.170000				227	226		956	942	1		1	1		0	0	207	0		1	8.849154e-01	0	7	0	11	0	227	956
TAS2R60	338398	broad.mit.edu	37	7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A	rs199511246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	30					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488																																						ENST00000332690.1	1.000000	0.630000	9.700000e-01	7.200000e-01	0.830000	0.841554	0.830000	1.000000																										0				31						c.(88-90)Gta>Ata		taste receptor, type 2, member 60							243.0	221.0	228.0					7																	143140633		2203	4300	6503	SO:0001583	missense	338398	0	0					g.chr7:143140633G>A	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.88G>A	chr7.hg19:g.143140633G>A	ENSP00000327724:p.Val30Ile	0					EPHA1-AS1_ENST00000429289.1_RNA	p.V30I	NM_177437.1	NP_803186.1	1	2	3	2.000345	P59551	T2R60_HUMAN		1	88	+	Melanoma(164;0.172)		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	1	1	hg19	c.88G>A	CCDS5885.1	0	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989567	0.18966	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.68	0.57	0.17347	5.68	0.57	0.17347	.	0.678333	0.13091	U	0.414543	T	0.24624	0.0597	L	0.28504	0.86	0.09310	N	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.23797	-1.0178	10	0.08381	T	0.77	.	1.7473	0.02964	0.2404:0.1384:0.4789:0.1424	.	30	P59551	T2R60_HUMAN	I	30	ENSP00000327724:V30I	ENSP00000327724:V30I	V	+	1	0	0	TAS2R60	142850755	142850755	0.034000	0.19679	0.022000	0.16811	0.019000	0.09904	0.535000	0.23114	0.045000	0.15804	0.655000	0.94253	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-11.124430	1	0.170000				55	53		731	718	0		1			0	0	156	0		1	0	0	0	0	0	0	55	731
TAS2R41	259287	broad.mit.edu	37	7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542																																						ENST00000408916.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(241-243)Ggc>Agc		taste receptor, type 2, member 41							105.0	105.0	105.0					7																	143175206		2003	4165	6168	SO:0001583	missense	259287	1	120954	32				g.chr7:143175206G>A	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.241G>A	chr7.hg19:g.143175206G>A	ENSP00000386201:p.Gly81Ser	0					EPHA1-AS1_ENST00000429289.1_RNA	p.G81S	NM_176883.2	NP_795364.2	1	2	3	2.000345	P59536	T2R41_HUMAN		1	241	+	Melanoma(164;0.15)		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	1	1	hg19	c.241G>A	CCDS43663.1	1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103716	0.06967	.	.	ENSG00000221855	ENST00000408916	T	0.39406	1.08	5.76	-0.794	0.10918	5.76	-0.794	0.10918	.	1.412690	0.04793	N	0.432118	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16958	-1.0385	10	0.08381	T	0.77	.	6.6835	0.23132	0.1486:0.0:0.5337:0.3176	.	81	P59536	T2R41_HUMAN	S	81	ENSP00000386201:G81S	ENSP00000386201:G81S	G	+	1	0	0	TAS2R41	142885328	142885328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.585000	0.05794	-0.138000	0.11434	-2.610000	0.00160	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.089759	1	0.170000				70	70		357	347	1		1			0	0	77	0		1	0	0	0	0	0	0	70	357
TAS2R41	259287	broad.mit.edu	37	7	143175313	143175313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517																																						ENST00000408916.1	1.000000	0.510000	1	6.500000e-01	0.820000	0.817953	0.820000	1.000000																										0				18						c.(346-348)caC>caT		taste receptor, type 2, member 41							78.0	77.0	77.0					7																	143175313		2001	4174	6175	SO:0001819	synonymous_variant	259287	0	0					g.chr7:143175313C>T	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.348C>T	chr7.hg19:g.143175313C>T		0					EPHA1-AS1_ENST00000429289.1_RNA	p.H116H	NM_176883.2	NP_795364.2	1	2	3	2.000345	P59536	T2R41_HUMAN		1	348	+	Melanoma(164;0.15)		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	1	1	hg19	c.348C>T	CCDS43663.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-19.999960	1	0.170000				20	20		275	269	0		1			0	0	56	0		9.999950e-01	0	0	0	0	0	0	20	275
OR2F2	135948	broad.mit.edu	37	7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507																																						ENST00000408955.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(193-195)aAc>aGc		olfactory receptor, family 2, subfamily F, member 2							245.0	237.0	240.0					7																	143632519		2203	4300	6503	SO:0001583	missense	135948	1	121412	35				g.chr7:143632519A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.194A>G	chr7.hg19:g.143632519A>G	ENSP00000386222:p.Asn65Ser	0						p.N65S	NM_001004685.1	NP_001004685.1	1	2	3	2.000345	O95006	OR2F2_HUMAN		1	261	+	Melanoma(164;0.0903)		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	1	1	hg19	c.194A>G	CCDS43666.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927836	0.52759	.	.	ENSG00000221910	ENST00000408955	T	0.01963	4.53	3.49	2.32	0.28847	3.49	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.04724	0.0128	M	0.66939	2.045	0.31028	N	0.717781	D	0.54772	0.968	P	0.49140	0.601	T	0.09164	-1.0687	10	0.66056	D	0.02	-26.1493	6.8745	0.24139	0.883:0.0:0.117:0.0	.	65	O95006	OR2F2_HUMAN	S	65	ENSP00000386222:N65S	ENSP00000386222:N65S	N	+	2	0	0	OR2F2	143263452	143263452	0.998000	0.40836	0.991000	0.47740	0.888000	0.51559	4.936000	0.63506	0.527000	0.28560	0.402000	0.26972	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1	1	0	1		2	2	2	0		0	0	258		258	277	1	2.060000	-20.000000	1	0.170000				214	207		1037	999	1		1			0	0	258	0		1	0	0	0	0	0	0	214	1037
OR2F1	26211	broad.mit.edu	37	7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D	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)	232					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493																																						ENST00000392899.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(694-696)gaA>gaC		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							183.0	159.0	167.0					7																	143657759		2203	4300	6503	SO:0001583	missense	26211	0	0					g.chr7:143657759A>C	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.696A>C	chr7.hg19:g.143657759A>C	ENSP00000376633:p.Glu232Asp	0					RP4-669B10.3_ENST00000466281.1_lincRNA	p.E232D	NM_012369.2	NP_036501.2	1	2	3	2.000345	Q13607	OR2F1_HUMAN		1	733	+	Melanoma(164;0.0903)		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	1	1	hg19	c.696A>C	CCDS5887.1	1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660959	0.29515	.	.	ENSG00000213215	ENST00000392899	T	0.00342	8.03	5.53	1.63	0.23807	5.53	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.114861	0.39146	N	0.001454	T	0.00271	0.0008	L	0.52266	1.64	0.26943	N	0.966205	B	0.17465	0.022	B	0.25140	0.058	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.8499	8.3184	0.32115	0.3484:0.0:0.6516:0.0	.	232	Q13607	OR2F1_HUMAN	D	232	ENSP00000376633:E232D	ENSP00000376633:E232D	E	+	3	2	2	OR2F1	143288692	143288692	0.210000	0.23517	0.478000	0.27316	0.534000	0.34807	0.034000	0.13776	0.115000	0.18071	-0.132000	0.14878	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1	1	0	1		2	2	2	0		0	0	84		84	85	1	2.060000	-20.000000	1	0.170000				90	90		332	326	1		1			0	0	84	0		1	0	0	0	0	0	0	90	332
OR6B1	135946	broad.mit.edu	37	7	143701395	143701395	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, 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)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478																																						ENST00000408922.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(304-306)taC>taT		olfactory receptor, family 6, subfamily B, member 1							158.0	158.0	158.0					7																	143701395		2149	4276	6425	SO:0001819	synonymous_variant	135946	0	0					g.chr7:143701395C>T		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.306C>T	chr7.hg19:g.143701395C>T		0						p.Y102Y	NM_001005281.1	NP_001005281.1	1	2	3	2.000345	O95007	OR6B1_HUMAN		1	374	+	Melanoma(164;0.0783)		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	1	1	hg19	c.306C>T	CCDS43667.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000				116	114		518	505	0		1			0	0	149	0		1	0	0	0	0	0	0	116	518
OR2A25	392138	broad.mit.edu	37	7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493																																						ENST00000408898.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(703-705)aAa>aCa		olfactory receptor, family 2, subfamily A, member 25							112.0	121.0	118.0					7																	143772016		2163	4294	6457	SO:0001583	missense	392138	0	0					g.chr7:143772016A>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.704A>C	chr7.hg19:g.143772016A>C	ENSP00000386167:p.Lys235Thr	0						p.K235T	NM_001004488.1	NP_001004488.1	1	2	3	2.000345	A4D2G3	O2A25_HUMAN		1	742	+	Melanoma(164;0.0783)		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	1	1	hg19	c.704A>C	CCDS43669.1	1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763942	0.49574	.	.	ENSG00000221933	ENST00000408898	T	0.00375	7.71	4.84	4.84	0.62591	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01695	0.0054	H	0.97023	3.925	0.43745	D	0.996242	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	9	0.87932	D	0	-6.4599	12.4196	0.55512	1.0:0.0:0.0:0.0	.	235	A4D2G3	O2A25_HUMAN	T	235	ENSP00000386167:K235T	ENSP00000386167:K235T	K	+	2	0	0	OR2A25	143402949	143402949	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.003000	0.76310	2.030000	0.59900	0.460000	0.39030	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000				107	103		456	449	1		1			0	0	132	0		1	0	0	0	0	0	0	107	456
OR2A12	346525	broad.mit.edu	37	7	143792476	143792476	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428																																						ENST00000408949.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(274-276)tcC>tcA		olfactory receptor, family 2, subfamily A, member 12							129.0	118.0	122.0					7																	143792476		2031	4202	6233	SO:0001819	synonymous_variant	346525	0	0					g.chr7:143792476C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.276C>A	chr7.hg19:g.143792476C>A		0						p.S92S	NM_001004135.1	NP_001004135.1	1	2	3	2.000345	Q8NGT7	O2A12_HUMAN		1	336	+	Melanoma(164;0.0783)		Q6IF43	Silent	SNP	ENST00000408949.2	1	1	hg19	c.276C>A	CCDS43670.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.196716	1	0.170000				70	70		298	295	1		1			0	0	87	0		1	0	0	0	0	0	0	70	298
OR2A2	442361	broad.mit.edu	37	7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512																																						ENST00000408979.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(67-69)Gcg>Acg		olfactory receptor, family 2, subfamily A, member 2							141.0	137.0	138.0					7																	143806742		2003	4194	6197	SO:0001583	missense	442361	0	0					g.chr7:143806742G>A		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.67G>A	chr7.hg19:g.143806742G>A	ENSP00000386209:p.Ala23Thr	0						p.A23T	NM_001005480.2	NP_001005480.2	1	2	3	2.000345	Q6IF42	OR2A2_HUMAN		1	136	+	Melanoma(164;0.0783)		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	1	1	hg19	c.67G>A	CCDS43671.1	1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513049	0.27123	.	.	ENSG00000221989	ENST00000408979	T	0.00438	7.42	3.5	1.64	0.23874	3.5	1.64	0.23874	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	9	0.66056	D	0.02	.	3.436	0.07446	0.2475:0.2198:0.5326:0.0	.	23	Q6IF42	OR2A2_HUMAN	T	23	ENSP00000386209:A23T	ENSP00000386209:A23T	A	+	1	0	0	OR2A2	143437675	143437675	0.000000	0.05858	0.050000	0.19076	0.033000	0.12548	-0.007000	0.12810	0.802000	0.34089	0.609000	0.83330	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				81	80		462	451	1		1			0	0	93	0		1	0	0	0	0	0	0	81	462
OR2A7	401427	broad.mit.edu	37	7	143956692	143956692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458																																						ENST00000493325.1	0.880000	0.560000	8.100000e-01	6.400000e-01	0.720000	0.729633	0.720000	0.720000																										0				6						c.(28-30)gaG>gaA		olfactory receptor, family 2, subfamily A, member 7							116.0	149.0	138.0					7																	143956692		2202	4300	6502	SO:0001819	synonymous_variant	401427	1	121382	29				g.chr7:143956692C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.30G>A	chr7.hg19:g.143956692C>T		1					OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	p.E10E	NM_001005328.1	NP_001005328.1	1	5	6	2.368656	Q96R45	OR2A7_HUMAN		1	123	-	Melanoma(164;0.14)		B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	1	1	hg19	c.30G>A	CCDS55177.1	0																																																																																								3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1	1	0	1		2	2	2	0		0	0	407		407	417	1	2.060000	-20.000000	1	0.170000				81	77		1687	1646	0		1	1		0	0	407	0		1	5.693107e-01	0	8	0	33	0	81	1687
ARHGEF5	7984	broad.mit.edu	37	7	144060720	144060720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	ENST00000056217.5	+	2	1132	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	320					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCAGGGAGGTCCAGAACAGGG	0.542																																						ENST00000056217.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.997075	0.990000	1.000000																										0				40						c.(958-960)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 5							62.0	56.0	58.0					7																	144060720		1475	3022	4497	SO:0001583	missense	7984	1	114612	25				g.chr7:144060720C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.958C>T	chr7.hg19:g.144060720C>T	ENSP00000056217:p.Pro320Ser	1					ARHGEF5_ENST00000471847.2_5'Flank	p.P320S	NM_005435.3	NP_005426.2	1	5	6	2.368656	Q12774	ARHG5_HUMAN		2	1132	+	Melanoma(164;0.14)		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	1	1	hg19	c.958C>T	CCDS34771.1	1	.	.	.	.	.	.	.	.	.	.	C	4.789	0.146640	0.09134	.	.	ENSG00000050327	ENST00000056217	T	0.71698	-0.59	4.05	2.07	0.26955	4.05	2.07	0.26955	.	2.529770	0.02386	U	0.079234	T	0.57359	0.2048	N	0.24115	0.695	0.20764	N	0.999857	B	0.11235	0.004	B	0.14023	0.01	T	0.39881	-0.9592	9	.	.	.	3.0887	6.5054	0.22192	0.0:0.7041:0.1844:0.1116	.	320	Q12774	ARHG5_HUMAN	S	320	ENSP00000056217:P320S	.	P	+	1	0	0	ARHGEF5	143691653	143691653	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-0.155000	0.10115	0.883000	0.36040	0.555000	0.69702	CCA	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	1		2	2	2	0		0	0	190		190	342	1	2.060000	-15.598080	1	0.170000	NM_005435			78	54		956	739	0		1			0	0	190	0		1	0	0	0	0	0	0	78	956
ARHGEF5	7984	broad.mit.edu	37	7	144061097	144061097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	445					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTGTCCCCCGCAGCTC	0.562																																						ENST00000056217.5	1.000000	0.550000	1	7.200000e-01	0.930000	0.884830	0.930000	1.000000																										0				40						c.(1333-1335)tcC>tcT		Rho guanine nucleotide exchange factor (GEF) 5							15.0	15.0	15.0					7																	144061097		1741	3333	5074	SO:0001819	synonymous_variant	7984	0	0					g.chr7:144061097C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1335C>T	chr7.hg19:g.144061097C>T		1					ARHGEF5_ENST00000471847.2_5'Flank	p.S445S	NM_005435.3	NP_005426.2	1	5	6	2.368656	Q12774	ARHG5_HUMAN		2	1509	+	Melanoma(164;0.14)		A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	1	1	hg19	c.1335C>T	CCDS34771.1	1																																																																																								3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	1		2	2	2	0		0	0	59		59	110	1	2.060000	-18.841740	1	0.170000	NM_005435			16	12		261	231	0		1	0		0	0	59	0		9.998331e-01	3.889171e-03	0	0	0	2	0	16	261
ARHGEF5	7984	broad.mit.edu	37	7	144068362	144068362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144068362G>A	ENST00000056217.5	+	6	3814	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAACCAGGAGCACCAATG	0.517																																						ENST00000056217.5	1.000000	0.530000	9.000000e-01	6.300000e-01	0.760000	0.770080	0.760000	1.000000																										0				40						c.(3640-3642)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 5							45.0	45.0	45.0					7																	144068362		2200	4275	6475	SO:0001583	missense	7984	0	0					g.chr7:144068362G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3640G>A	chr7.hg19:g.144068362G>A	ENSP00000056217:p.Glu1214Lys	1					ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	p.E1214K	NM_005435.3	NP_005426.2	1	5	6	2.368656	Q12774	ARHG5_HUMAN		6	3814	+	Melanoma(164;0.14)		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	0	1	hg19	c.3640G>A	CCDS34771.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.156157	0.94686	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.66099	-0.19;-0.19	4.79	4.79	0.61399	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.379579	0.27402	N	0.019536	T	0.71779	0.3380	M	0.85630	2.765	0.48395	D	0.999646	B;P	0.47484	0.101;0.896	B;P	0.46510	0.216;0.519	T	0.78703	-0.2101	10	0.66056	D	0.02	-0.9488	15.6627	0.77199	0.0:0.0:1.0:0.0	.	69;1214	B3KQX6;Q12774	.;ARHG5_HUMAN	K	1214;69;136	ENSP00000056217:E1214K;ENSP00000418227:E136K	ENSP00000056217:E1214K	E	+	1	0	0	ARHGEF5	143699295	143699295	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.340000	0.79292	2.376000	0.81061	0.555000	0.69702	GAG	3.805970e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	1		2	2	2	0		0	0	138		138	266	1	2.060000	-20.000000	1	0.170000	NM_005435			34	17		676	337	0		1	0		0	0	138	0		9.999930e-01	7.168972e-03	0	1	0	2	0	34	676
NOBOX	135935	broad.mit.edu	37	7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T	rs199740315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	315					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587																																						ENST00000467773.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(943-945)cGc>cAc		NOBOX oogenesis homeobox		C	HIS/ARG	2,3832		0,2,1915	62.0	62.0	62.0		944	5.7	1.0	7		62	1,8233		0,1,4116	yes	missense	NOBOX	NM_001080413.3	29	0,3,6031	TT,TC,CC		0.0121,0.0522,0.0249	probably-damaging	315/692	144097306	3,12065	1917	4117	6034	SO:0001583	missense	135935	4	120866	39				g.chr7:144097306C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.944G>A	chr7.hg19:g.144097306C>T	ENSP00000419457:p.Arg315His	0					NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	p.R315H	NM_001080413.3	NP_001073882.3	0	0	0	1.922693	O60393	NOBOX_HUMAN		5	943	-	Melanoma(164;0.14)		A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	1	1	hg19	c.944G>A		1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433226	0.83776	5.22E-4	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96459	-4.02;-4.02;-4.02	5.68	5.68	0.88126	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.066452	0.53938	D	0.000057	D	0.98169	0.9395	M	0.83603	2.65	0.43930	D	0.996589	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	-27.6213	17.2787	0.87122	0.0:1.0:0.0:0.0	.	315	O60393	NOBOX_HUMAN	H	315;315;230;104	ENSP00000419565:R315H;ENSP00000419457:R315H;ENSP00000223140:R230H	ENSP00000223140:R230H	R	-	2	0	0	NOBOX	143728239	143728239	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	5.277000	0.65586	2.671000	0.90904	0.650000	0.86243	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	1	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-3.030017	1	0.170000	XM_001134420			67	62		299	289	1		1			0	0	70	0		1	0	0	0	0	0	0	67	299
TPK1	27010	broad.mit.edu	37	7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000360057.3	-	7	488	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000549981.1_Missense_Mutation_p.A12V	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	129					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)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(385-387)gCt>gTt		thiamin pyrophosphokinase 1	Thiamine(DB00152)						89.0	87.0	88.0					7																	144288631		2203	4300	6503	SO:0001583	missense	27010	0	0					g.chr7:144288631G>A	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.386C>T	chr7.hg19:g.144288631G>A	ENSP00000353165:p.Ala129Val	0					TPK1_ENST00000378099.3_Intron|TPK1_ENST00000549981.1_Missense_Mutation_p.A12V|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	p.A129V	NM_022445.3	NP_071890.2	0	0	0	1.922693	Q9H3S4	TPK1_HUMAN		7	488	-			A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	1	1	hg19	c.386C>T	CCDS5888.1	1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631484	0.46944	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82711	-1.64;-1.64	5.78	0.307	0.15811	5.78	0.307	0.15811	Thiamin pyrophosphokinase, catalytic domain (3);	0.349077	0.31134	N	0.008191	T	0.80177	0.4575	M	0.71581	2.175	0.09310	N	1	P	0.44478	0.836	B	0.34452	0.183	T	0.75365	-0.3343	10	0.87932	D	0	-2.8133	19.4398	0.94813	0.0:0.7357:0.2643:0.0	.	129	Q9H3S4	TPK1_HUMAN	V	129;12;129	ENSP00000353165:A129V;ENSP00000448655:A129V	ENSP00000353165:A129V	A	-	2	0	0	TPK1	143919564	143919564	0.033000	0.19621	0.018000	0.16275	0.912000	0.54170	0.557000	0.23454	0.048000	0.15891	0.655000	0.94253	GCT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_022445			69	69		308	302	1		1	1		0	0	68	0		1	9.975764e-01	0	7	0	36	0	69	308
CNTNAP2	26047	broad.mit.edu	37	7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	46	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)			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)			ACTCCCCCATGTGGCTTTCAG	0.438										HNSCC(39;0.1)																												ENST00000361727.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993683	0.990000	1.000000																										0				188						c.(136-138)Gtg>Atg		contactin associated protein-like 2		G	MET/VAL	9,4397	15.5+/-35.6	0,9,2194	74.0	72.0	72.0		136	1.7	0.0	7	dbSNP_134	72	0,8600		0,0,4300	yes	missense	CNTNAP2	NM_014141.5	21	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	46/1332	146471401	9,12997	2203	4300	6503	SO:0001583	missense	26047	13	121412	42				g.chr7:146471401G>A	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.136G>A	chr7.hg19:g.146471401G>A	ENSP00000354778:p.Val46Met	0	HNSCC(39;0.1)					p.V46M	NM_014141.5	NP_054860.1	0	0	0	1.922693	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)	2	652	+	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)	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	1	1	hg19	c.136G>A	CCDS5889.1	1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597235	0.13875	0.002043	0.0	ENSG00000174469	ENST00000361727	D	0.97186	-4.28	5.74	1.69	0.24217	5.74	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	1.629630	0.04097	N	0.312269	D	0.91962	0.7454	N	0.16368	0.405	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.82900	-0.0228	10	0.36615	T	0.2	.	2.1205	0.03724	0.1681:0.2845:0.401:0.1463	.	46	Q9UHC6	CNTP2_HUMAN	M	46	ENSP00000354778:V46M	ENSP00000354778:V46M	V	+	1	0	0	CNTNAP2	146102334	146102334	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	0.138000	0.16016	0.029000	0.15352	0.650000	0.86243	GTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000				22	22		153	150	1		1			0	0	37	0		9.999990e-01	0	0	0	0	0	0	22	153
CNTNAP2	26047	broad.mit.edu	37	7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A	rs267601384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	84	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)			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)			ATTATCAATGGCTTCAGGTTG	0.463										HNSCC(39;0.1)																												ENST00000361727.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				188						c.(250-252)tgG>tgA		contactin associated protein-like 2							90.0	78.0	82.0					7																	146536846		2203	4300	6503	SO:0001587	stop_gained	26047	0	0					g.chr7:146536846G>A	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.252G>A	chr7.hg19:g.146536846G>A	ENSP00000354778:p.Trp84*	0	HNSCC(39;0.1)					p.W84*	NM_014141.5	NP_054860.1	0	0	0	1.922693	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)	3	768	+	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)	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	0	1	hg19	c.252G>A	CCDS5889.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.023625	0.99319	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000354778:W84X	W	+	3	0	0	CNTNAP2	146167779	146167779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				45	45		223	218	1		1			0	0	67	0		1	0	0	0	0	0	0	45	223
MICALL2	79778	broad.mit.edu	37	7	1477814	1477814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	ENST00000297508.7	-	12	2405	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	744	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGTCCTGCAGCTGCCTCTGT	0.731																																						ENST00000297508.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998597	0.990000	1.000000																										0				19						c.(2230-2232)Ctg>Atg		MICAL-like 2							9.0	11.0	11.0					7																	1477814		2160	4257	6417	SO:0001583	missense	79778	0	0					g.chr7:1477814G>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2230C>A	chr7.hg19:g.1477814G>T	ENSP00000297508:p.Leu744Met	0					MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M	p.L744M	NM_182924.3	NP_891554.1	1	2	3	2.000345	Q8IY33	MILK2_HUMAN		12	2405	-		Ovarian(82;0.0253)	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	0	1	hg19	c.2230C>A	CCDS5324.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604029	0.28534	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.52983	0.64;0.64	3.95	-7.9	0.01169	3.95	-7.9	0.01169	Domain of unknown function DUF3585 (1);	1.590950	0.04597	N	0.397852	T	0.33498	0.0865	N	0.21097	0.63	0.32570	N	0.529911	B;P	0.44195	0.149;0.828	B;B	0.43445	0.058;0.42	T	0.51718	-0.8670	10	0.59425	D	0.04	.	9.0367	0.36291	0.0:0.1679:0.4919:0.3401	.	744;532	Q8IY33;D3YTD2	MILK2_HUMAN;.	M	532;744	ENSP00000385928:L532M;ENSP00000297508:L744M	ENSP00000297508:L744M	L	-	1	2	2	MICALL2	1444340	1444340	0.093000	0.21703	0.701000	0.30321	0.214000	0.24535	-0.414000	0.07114	-1.946000	0.01035	-0.519000	0.04390	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	1	0	1		2	2	2	0		0	0	8		8	7	1	2.060000	-19.080940	1	0.170000	NM_182924			9	9		31	30	0		1	1		0	0	8	0		9.955255e-01	9.999210e-01	0	21	0	58	0	9	31
CNTNAP2	26047	broad.mit.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)																												ENST00000361727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(1666-1668)Gac>Cac		contactin associated protein-like 2							130.0	115.0	120.0					7																	147092868		2203	4299	6502	SO:0001583	missense	26047	0	0					g.chr7:147092868G>C	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.1666G>C	chr7.hg19:g.147092868G>C	ENSP00000354778:p.Asp556His	0	HNSCC(39;0.1)					p.D556H	NM_014141.5	NP_054860.1	0	0	0	1.922693	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)	10	2182	+	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)	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	1	1	hg19	c.1666G>C	CCDS5889.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406066	0.83230	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	H	556	ENSP00000354778:D556H	ENSP00000354778:D556H	D	+	1	0	0	CNTNAP2	146723801	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1		2	2	2	0		0	0	108		108	107	1	2.060000	-20.000000	1	0.170000				76	76		428	421	1		1			0	0	108	0		1	0	0	0	0	0	0	76	428
CNTNAP2	26047	broad.mit.edu	37	7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H. {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)			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)			GCAGCAGATCCGCAAGGCCCC	0.562										HNSCC(39;0.1)																												ENST00000361727.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				188						c.(2716-2718)Cgc>Tgc		contactin associated protein-like 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	68.0	69.0		2716	5.5	1.0	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	906/1332	147844744	2,13004	2203	4300	6503	SO:0001583	missense	26047	5	121412	40				g.chr7:147844744C>T	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.2716C>T	chr7.hg19:g.147844744C>T	ENSP00000354778:p.Arg906Cys	0	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.R906C	NM_014141.5	NP_054860.1	0	0	0	1.922693	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)	17	3232	+	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)	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	1	1	hg19	c.2716C>T	CCDS5889.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566564	0.86439	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.49	5.49	0.81192	5.49	5.49	0.81192	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	0.90195	0.6935	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91397	0.5140	10	0.56958	D	0.05	.	17.9875	0.89159	0.0:1.0:0.0:0.0	.	906	Q9UHC6	CNTP2_HUMAN	C	906	ENSP00000354778:R906C	ENSP00000354778:R906C	R	+	1	0	0	CNTNAP2	147475677	147475677	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.369000	0.44231	2.583000	0.87209	0.561000	0.74099	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-2.948907	1	0.170000				77	76		374	364	1		1			0	0	71	0		1	0	0	0	0	0	0	77	374
CNTNAP2	26047	broad.mit.edu	37	7	147914439	147914439	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147914439A>G	ENST00000361727.3	+	19	3586	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1024					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)			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)			GGCACCAGCAACAAATGCCAG	0.498										HNSCC(39;0.1)																												ENST00000361727.3	0.310000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.202691	0.190000	0.190000																										0				188						c.(3070-3072)Aca>Gca		contactin associated protein-like 2							122.0	122.0	122.0					7																	147914439		2203	4300	6503	SO:0001583	missense	26047	0	0					g.chr7:147914439A>G	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.3070A>G	chr7.hg19:g.147914439A>G	ENSP00000354778:p.Thr1024Ala	0	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	p.T1024A	NM_014141.5	NP_054860.1	0	0	0	1.922693	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)	19	3586	+	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)	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	0	1	hg19	c.3070A>G	CCDS5889.1	0	.	.	.	.	.	.	.	.	.	.	A	2.089	-0.408750	0.04799	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79554	-1.28;-1.28	5.25	-4.6	0.03390	5.25	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.943125	0.08941	N	0.871526	T	0.60405	0.2266	L	0.31578	0.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.08599	T	0.76	.	4.5312	0.12006	0.5566:0.103:0.2361:0.1043	.	1024	Q9UHC6	CNTP2_HUMAN	A	1024;83	ENSP00000354778:T1024A;ENSP00000440732:T83A	ENSP00000354778:T1024A	T	+	1	0	0	CNTNAP2	147545372	147545372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-1.048000	0.03238	-0.366000	0.07423	ACA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	0	0	1		2	2	2	0		0	0	118		118	115	1	2.060000	-8.841754	1	0.170000				12	12		706	677	0		1			0	0	118	0		9.988706e-01	0	0	0	0	0	0	12	706
C7orf33	202865	broad.mit.edu	37	7	148311388	148311388	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458																																						ENST00000307003.2	1.000000	0.610000	1	7.400000e-01	0.880000	0.877158	0.880000	1.000000																										0				14						c.(457-459)aaC>aaT		chromosome 7 open reading frame 33							118.0	98.0	105.0					7																	148311388		2203	4300	6503	SO:0001630	splice_region_variant	202865	2	121410	32				g.chr7:148311388C>T	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.459+1C>T	chr7.hg19:g.148311388C>T		0						p.N153N	NM_145304.2	NP_660347.1	0	0	0	1.922693	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	2	820	+	Melanoma(164;0.15)			Splice_Site	SNP	ENST00000307003.2	1	0	hg19	c.459C>T	CCDS5890.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_145304	Silent		30	30		350	347	0		1			0	0	85	0		1	0	0	0	0	0	0	30	350
CUL1	8454	broad.mit.edu	37	7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328																																						ENST00000325222.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(334-336)Gat>Aat		cullin 1							129.0	132.0	131.0					7																	148454093		2203	4300	6503	SO:0001583	missense	8454	0	0					g.chr7:148454093G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.334G>A	chr7.hg19:g.148454093G>A	ENSP00000326804:p.Asp112Asn	0					CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	p.D112N	NM_003592.2	NP_003583.2	0	0	0	1.922693	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	4	613	+	Melanoma(164;0.15)		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	1	1	hg19	c.334G>A	CCDS34772.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139977	0.77775	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.32515	1.45;1.45	4.74	4.74	0.60224	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39514	1.22	0.80722	D	1	P	0.35844	0.524	B	0.42112	0.376	T	0.08994	-1.0695	10	0.36615	T	0.2	-36.0131	18.0881	0.89464	0.0:0.0:1.0:0.0	.	112	Q13616	CUL1_HUMAN	N	112;112;70	ENSP00000387160:D112N;ENSP00000326804:D112N	ENSP00000326804:D112N	D	+	1	0	0	CUL1	148085026	148085026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.514000	0.98013	2.360000	0.80028	0.650000	0.86243	GAT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_003592			87	86		339	334	1		1	1		0	0	84	0		1	1	0	15	0	86	0	87	339
EZH2	2146	broad.mit.edu	37	7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000460911.1	-	17	2046	c.1958G>T	c.(1957-1959)aGa>aTa	p.R653I	EZH2_ENST00000320356.2_Missense_Mutation_p.R658I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	653	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCCCTCTTCTGTCAGCTTC	0.398			Mis		DLBCL																																	ENST00000460911.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000				Rec?	yes			Rec?	yes		7	7q35-q36	7q35-q36	2146	Mis	enhancer of zeste homolog 2				L	L			DLBCL		0				359						c.(1957-1959)aGa>aTa		enhancer of zeste 2 polycomb repressive complex 2 subunit							90.0	78.0	82.0					7																	148507481		2202	4300	6502	SO:0001583	missense	2146	0	0					g.chr7:148507481C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1958G>T	chr7.hg19:g.148507481C>A	ENSP00000419711:p.Arg653Ile	0					EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000320356.2_Missense_Mutation_p.R658I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I	p.R653I			0	0	0	1.922693	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)	17	2046	-	Melanoma(164;0.15)		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	1	1	hg19	c.1958G>T	CCDS56516.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.285424	0.95517	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81739	-1.53;-1.31;-1.31;-1.31;-1.53;-1.53;-1.31	5.45	5.45	0.79879	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.79011	2.435	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	1.0;1.0;1.0;1.0;0.997	D	0.91099	0.4913	10	0.87932	D	0	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	644;602;653;614;658	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	I	602;658;653;614;602;602;644	ENSP00000417062:R602I;ENSP00000320147:R658I;ENSP00000419711:R653I;ENSP00000223193:R614I;ENSP00000443219:R602I;ENSP00000419050:R602I;ENSP00000419856:R644I	ENSP00000320147:R658I	R	-	2	0	0	EZH2	148138414	148138414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.550000	0.86006	0.655000	0.94253	AGA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.254138	1	0.170000	NM_004456			40	40		207	203	1		1	1		0	0	60	0		1	9.663697e-01	0	8	0	23	0	40	207
EZH2	2146	broad.mit.edu	37	7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000460911.1	-	15	1818	c.1730T>C	c.(1729-1731)gTc>gCc	p.V577A	EZH2_ENST00000320356.2_Missense_Mutation_p.V582A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	577	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACTCTCGGACAGCCAGGTA	0.547			Mis		DLBCL																																	ENST00000460911.1	1.000000	0.590000	9.200000e-01	6.800000e-01	0.790000	0.806447	0.790000	1.000000				Rec?	yes			Rec?	yes		7	7q35-q36	7q35-q36	2146	Mis	enhancer of zeste homolog 2				L	L			DLBCL		0				359						c.(1729-1731)gTc>gCc		enhancer of zeste 2 polycomb repressive complex 2 subunit							177.0	162.0	167.0					7																	148511157		2203	4300	6503	SO:0001583	missense	2146	0	0					g.chr7:148511157A>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1730T>C	chr7.hg19:g.148511157A>G	ENSP00000419711:p.Val577Ala	0					EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000320356.2_Missense_Mutation_p.V582A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A	p.V577A			0	0	0	1.922693	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)	15	1818	-	Melanoma(164;0.15)		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	1	1	hg19	c.1730T>C	CCDS56516.1	0	.	.	.	.	.	.	.	.	.	.	a	20.4	3.977289	0.74360	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89746	-2.56;-1.29;-1.29;-1.29;-2.56;-2.56;-1.29	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.58302	1.8	0.80722	D	1	B;B;P;P;B	0.36944	0.19;0.295;0.574;0.566;0.3	B;B;B;B;B	0.40825	0.172;0.28;0.297;0.341;0.154	D	0.83610	0.0133	10	0.05721	T	0.95	.	15.3083	0.74011	1.0:0.0:0.0:0.0	.	568;526;577;538;582	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	A	526;582;577;538;526;526;568	ENSP00000417062:V526A;ENSP00000320147:V582A;ENSP00000419711:V577A;ENSP00000223193:V538A;ENSP00000443219:V526A;ENSP00000419050:V526A;ENSP00000419856:V568A	ENSP00000320147:V582A	V	-	2	0	0	EZH2	148142090	148142090	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.042000	0.93793	2.010000	0.58986	0.460000	0.39030	GTC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-10.240250	1	0.170000	NM_004456			44	43		577	565	1		1	1		0	0	114	0		1	8.817391e-01	0	10	0	41	0	44	577
EZH2	2146	broad.mit.edu	37	7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000460911.1	-	7	797	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000320356.2_Missense_Mutation_p.A237S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	237	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGTTCTTCTGCTGTGCCCTTA	0.368			Mis		DLBCL																																	ENST00000460911.1	1.000000	0.650000	9.700000e-01	7.500000e-01	0.850000	0.858175	0.850000	1.000000				Rec?	yes			Rec?	yes		7	7q35-q36	7q35-q36	2146	Mis	enhancer of zeste homolog 2				L	L			DLBCL		0				359						c.(709-711)Gca>Tca		enhancer of zeste 2 polycomb repressive complex 2 subunit							168.0	162.0	164.0					7																	148524275		2203	4300	6503	SO:0001583	missense	2146	0	0					g.chr7:148524275C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.709G>T	chr7.hg19:g.148524275C>A	ENSP00000419711:p.Ala237Ser	0					EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000320356.2_Missense_Mutation_p.A237S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S	p.A237S			0	0	0	1.922693	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)	7	797	-	Melanoma(164;0.15)		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	1	1	hg19	c.709G>T	CCDS56516.1	1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.685787	0.29962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93712	-3.24;-3.27;-3.27;-3.27;-3.24;-3.24;-3.27;0.97	5.6	4.68	0.58851	5.6	4.68	0.58851	SANT domain, DNA binding (1);	0.338513	0.34580	N	0.003859	D	0.83519	0.5272	N	0.04636	-0.2	0.31822	N	0.62585	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.002;0.001	T	0.79035	-0.1968	10	0.24483	T	0.36	.	13.5966	0.61994	0.2792:0.7208:0.0:0.0	.	237;228;228;237;198;237	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	228;237;237;198;228;228;228;128	ENSP00000417062:A228S;ENSP00000320147:A237S;ENSP00000419711:A237S;ENSP00000223193:A198S;ENSP00000443219:A228S;ENSP00000419050:A228S;ENSP00000419856:A228S;ENSP00000439305:A128S	ENSP00000320147:A237S	A	-	1	0	0	EZH2	148155208	148155208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.632000	0.89209	0.650000	0.86243	GCA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1		2	2	2	0		0	0	178		178	176	1	2.060000	-12.355320	1	0.170000	NM_004456			56	56		682	667	1		1	1		0	0	178	0		1	6.778209e-01	0	9	0	21	0	56	682
PDIA4	9601	broad.mit.edu	37	7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	468					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286091.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1402-1404)aGc>aAc		protein disulfide isomerase family A, member 4							208.0	171.0	184.0					7																	148702352		2203	4300	6503	SO:0001583	missense	9601	0	0					g.chr7:148702352C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1403G>A	chr7.hg19:g.148702352C>T	ENSP00000286091:p.Ser468Asn	0		OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.S468N	NM_004911.4	NP_004902.1	0	0	0	1.922693	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)	9	1635	-	Melanoma(164;0.15)		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	1	1	hg19	c.1403G>A	CCDS5893.1	1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531072	0.45073	.	.	ENSG00000155660	ENST00000286091	T	0.33438	1.41	5.24	5.24	0.73138	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.207546	0.64402	D	0.000020	T	0.38161	0.1030	M	0.82323	2.585	0.42745	D	0.993757	B	0.21905	0.062	B	0.21360	0.034	T	0.24333	-1.0163	10	0.31617	T	0.26	.	13.7034	0.62622	0.193:0.807:0.0:0.0	.	468	P13667	PDIA4_HUMAN	N	468	ENSP00000286091:S468N	ENSP00000286091:S468N	S	-	2	0	0	PDIA4	148333285	148333285	0.983000	0.35010	0.995000	0.50966	0.972000	0.66771	3.840000	0.55843	2.445000	0.82738	0.655000	0.94253	AGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	1	0	1		2	2	2	0		0	0	176		176	175	1	2.060000	-20.000000	1	0.170000	NM_004911			174	172		680	668	1		1	1		0	0	176	0		1	1	0	536	0	1066	0	174	680
PDIA4	9601	broad.mit.edu	37	7	148718166	148718166	+	Silent	SNP	G	G	A	rs374207775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	54	Asp/Glu-rich (acidic).|Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418																																						ENST00000286091.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999685	0.990000	1.000000																										0				24						c.(160-162)gaC>gaT		protein disulfide isomerase family A, member 4		G		1,4405	2.1+/-5.4	0,1,2202	191.0	175.0	180.0		162	-9.5	0.0	7		180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		54/646	148718166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9601	2	121408	38				g.chr7:148718166G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.162C>T	chr7.hg19:g.148718166G>A		0						p.D54D	NM_004911.4	NP_004902.1	0	0	0	1.922693	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)	2	394	-	Melanoma(164;0.15)		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	1	1	hg19	c.162C>T	CCDS5893.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-15.798230	1	0.170000	NM_004911			25	24		120	117	0		1	1		0	0	40	0		9.999999e-01	1	0	264	0	720	0	25	120
ZNF786	136051	broad.mit.edu	37	7	148768238	148768238	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000491431.1	-	4	1690	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000316286.9_Silent_p.C456C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	542					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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632																																						ENST00000491431.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999467	0.990000	1.000000																										0				26						c.(1624-1626)tgC>tgT		zinc finger protein 786							24.0	27.0	26.0					7																	148768238		2148	4258	6406	SO:0001819	synonymous_variant	136051	0	0					g.chr7:148768238G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1626C>T	chr7.hg19:g.148768238G>A		0					ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000316286.9_Silent_p.C456C	p.C542C	NM_152411.3	NP_689624.2	0	0	0	1.922693	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1690	-	Melanoma(164;0.15)		A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	1	1	hg19	c.1626C>T	CCDS47738.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_152411			24	24		121	120	1		1	1		0	0	31	0		9.999998e-01	8.608751e-01	0	6	0	14	0	24	121
ZNF786	136051	broad.mit.edu	37	7	148768644	148768644	+	Missense_Mutation	SNP	C	C	T	rs62507486	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768644C>T	ENST00000491431.1	-	4	1284	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	ZNF786_ENST00000451334.3_Missense_Mutation_p.R370H|ZNF786_ENST00000316286.9_Missense_Mutation_p.R321H	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	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)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCGGCGCAGGCGGAAGCGCTT	0.652													C|||	15	0.00299521	0.0008	0.0115	5008	,	,		19767	0.0		0.004	False		,,,				2504	0.002					ENST00000491431.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.997982	0.990000	1.000000																										0				26						c.(1219-1221)cGc>cAc		zinc finger protein 786		C	HIS/ARG	9,4215		0,9,2103	24.0	26.0	25.0		1220	-1.2	0.0	7	dbSNP_129	25	67,8383		0,67,4158	yes	missense	ZNF786	NM_152411.3	29	0,76,6261	TT,TC,CC		0.7929,0.2131,0.5997	probably-damaging	407/783	148768644	76,12598	2112	4225	6337	SO:0001583	missense	136051	0	0					g.chr7:148768644C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1220G>A	chr7.hg19:g.148768644C>T	ENSP00000417470:p.Arg407His	0					ZNF786_ENST00000451334.3_Missense_Mutation_p.R370H|ZNF786_ENST00000316286.9_Missense_Mutation_p.R321H	p.R407H	NM_152411.3	NP_689624.2	0	0	0	1.922693	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1284	-	Melanoma(164;0.15)		A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	1	0	hg19	c.1220G>A	CCDS47738.1	1	9	0.004120879120879121	0	0.0	6	0.016574585635359115	0	0.0	3	0.00395778364116095	C	13.09	2.134801	0.37728	0.002131	0.007929	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08102	3.13;3.13;3.13	3.87	-1.24	0.09435	3.87	-1.24	0.09435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	L	0.42744	1.35	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38908	-0.9639	9	0.37606	T	0.19	-1.8392	3.0778	0.06252	0.3117:0.301:0.0:0.3873	rs62507486	407	Q8N393	ZN786_HUMAN	H	321;321;407;370	ENSP00000313516:R321H;ENSP00000417470:R407H;ENSP00000404984:R370H	ENSP00000313516:R321H	R	-	2	0	0	ZNF786	148399577	148399577	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.532000	0.02217	-0.534000	0.06315	-0.136000	0.14681	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	0	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-3.365883	1	0.170000	NM_152411			23	23		138	136	1		1	1		0	0	28	0		9.999996e-01	5.384653e-01	0	4	0	8	0	23	138
ZNF425	155054	broad.mit.edu	37	7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					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)			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)			CTGGAAGGGCCTCTCTCCACT	0.562																																						ENST00000378061.2	1.000000	0.720000	1	8.400000e-01	0.970000	0.938277	0.970000	1.000000																										0				50						c.(2074-2076)aGg>aTg		zinc finger protein 425							91.0	87.0	89.0					7																	148800888		2203	4300	6503	SO:0001583	missense	155054	0	0					g.chr7:148800888C>A	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.2075G>T	chr7.hg19:g.148800888C>A	ENSP00000367300:p.Arg692Met	0						p.R692M	NM_001001661.2	NP_001001661.1	0	0	0	1.922693	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	2207	-	Melanoma(164;0.15)		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	1	1	hg19	c.2075G>T	CCDS34773.1	1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071401	0.36566	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.44	-1.11	0.09840	3.44	-1.11	0.09840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.84773	2.715	0.24828	N	0.992545	D	0.67145	0.996	P	0.62649	0.905	T	0.26467	-1.0102	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.5338:0.0:0.4662	.	692	Q6IV72	ZN425_HUMAN	M	692	ENSP00000367300:R692M	ENSP00000367300:R692M	R	-	2	0	0	ZNF425	148431821	148431821	0.000000	0.05858	0.065000	0.19835	0.982000	0.71751	-2.517000	0.00954	-0.170000	0.10816	0.655000	0.94253	AGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.318794	1	0.170000	XM_088140			45	43		474	462	0		1	1		0	0	96	0		1	3.507724e-01	0	3	0	11	0	45	474
ZNF425	155054	broad.mit.edu	37	7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	580					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)			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)			ACGCGAAGGGCTTCTCGTCCC	0.597																																						ENST00000378061.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1738-1740)aaG>aaT		zinc finger protein 425							73.0	62.0	66.0					7																	148801223		2203	4300	6503	SO:0001583	missense	155054	0	0					g.chr7:148801223C>A	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.1740G>T	chr7.hg19:g.148801223C>A	ENSP00000367300:p.Lys580Asn	0						p.K580N	NM_001001661.2	NP_001001661.1	0	0	0	1.922693	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1872	-	Melanoma(164;0.15)		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	1	1	hg19	c.1740G>T	CCDS34773.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567119	0.45694	.	.	ENSG00000204947	ENST00000378061	T	0.08546	3.08	3.42	2.51	0.30379	3.42	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	M	0.81112	2.525	0.27794	N	0.94271	D	0.59357	0.985	P	0.54590	0.756	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9994	0.19511	0.0:0.7513:0.0:0.2486	.	580	Q6IV72	ZN425_HUMAN	N	580	ENSP00000367300:K580N	ENSP00000367300:K580N	K	-	3	2	2	ZNF425	148432156	148432156	0.097000	0.21791	0.054000	0.19295	0.376000	0.30014	0.637000	0.24659	0.741000	0.32674	0.655000	0.94253	AAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	XM_088140			63	63		299	293	1		1	1		0	0	76	0		1	7.285389e-01	0	4	0	10	0	63	299
ZNF425	155054	broad.mit.edu	37	7	148801589	148801589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					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.R458R(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)			GCTGGTGGGCGCGCATGGCGT	0.662																																						ENST00000378061.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - coding silent(1)	p.R458R(1)	large_intestine(1)	50						c.(1372-1374)cgC>cgT		zinc finger protein 425							33.0	34.0	34.0					7																	148801589		2203	4300	6503	SO:0001819	synonymous_variant	155054	1	121374	20				g.chr7:148801589G>A	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.1374C>T	chr7.hg19:g.148801589G>A		0						p.R458R	NM_001001661.2	NP_001001661.1	0	0	0	1.922693	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1506	-	Melanoma(164;0.15)		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	1	1	hg19	c.1374C>T	CCDS34773.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	0		22	2	2	1		1	1	50		50	48	1	2.060000	-20.000000	1	0.170000	XM_088140			57	56		291	283	1		1	1		1	0	50	0		9.999887e-01	3.916319e-01	0	4	0	4	0	57	291
ZNF425	155054	broad.mit.edu	37	7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C	rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	457					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)			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)			TGGGCGCGCATGGCGTTCCTC	0.672																																						ENST00000378061.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1369-1371)Atg>Gtg		zinc finger protein 425		T	VAL/MET	0,4406		0,0,2203	34.0	35.0	34.0		1369	-1.5	0.0	7	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF425	NM_001001661.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	457/753	148801594	1,13005	2203	4300	6503	SO:0001583	missense	155054	0	0					g.chr7:148801594T>C	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.1369A>G	chr7.hg19:g.148801594T>C	ENSP00000367300:p.Met457Val	0						p.M457V	NM_001001661.2	NP_001001661.1	0	0	0	1.922693	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1501	-	Melanoma(164;0.15)		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	1	1	hg19	c.1369A>G	CCDS34773.1	1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695657	0.68386	0.0	1.16E-4	ENSG00000204947	ENST00000378061	T	0.17213	2.29	3.17	-1.54	0.08584	3.17	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B	0.33694	0.421	B	0.31191	0.125	T	0.27673	-1.0067	9	0.87932	D	0	.	5.7292	0.18030	0.1752:0.0:0.5343:0.2906	.	457	Q6IV72	ZN425_HUMAN	V	457	ENSP00000367300:M457V	ENSP00000367300:M457V	M	-	1	0	0	ZNF425	148432527	148432527	0.001000	0.12720	0.007000	0.13788	0.913000	0.54294	0.052000	0.14163	-0.012000	0.14223	0.533000	0.62120	ATG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	0		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	XM_088140			67	66		291	284	1		1	0		0	0	52	0		1	4.622932e-01	0	0	0	8	0	67	291
DGKB	1607	broad.mit.edu	37	7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	2					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)			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						TCCTGGTTTGTCATGGTGGTG	0.408																																						ENST00000403951.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999904	0.990000	1.000000																										0				72						c.(4-6)Aca>Cca		diacylglycerol kinase, beta 90kDa							84.0	83.0	83.0					7																	14880885		1883	4103	5986	SO:0001583	missense	1607	0	0					g.chr7:14880885T>G	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.4A>C	chr7.hg19:g.14880885T>G	ENSP00000385780:p.Thr2Pro	0					DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P	p.T2P			1	2	3	2.000345	Q9Y6T7	DGKB_HUMAN		2	423	-			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	1	1	hg19	c.4A>C	CCDS47547.1	1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210761	0.58343	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.32	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.123212	0.53938	D	0.000053	T	0.72463	0.3463	N	0.22421	0.69	0.36102	D	0.844197	P;B;P;P	0.51537	0.91;0.118;0.946;0.91	B;B;B;B	0.43680	0.245;0.095;0.427;0.245	T	0.81521	-0.0895	10	0.72032	D	0.01	.	14.5048	0.67746	0.0:0.0:0.0:1.0	.	2;2;2;2	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	2	ENSP00000385780:T2P;ENSP00000382260:T2P;ENSP00000258767:T2P;ENSP00000384909:T2P;ENSP00000385031:T2P;ENSP00000388451:T2P;ENSP00000386066:T2P	ENSP00000258767:T2P	T	-	1	0	0	DGKB	14847410	14847410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.211000	0.65219	2.078000	0.62432	0.381000	0.24937	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-13.807960	1	0.170000	NM_004080			21	21		100	97	1		1	0		0	0	27	0		9.999984e-01	0	0	0	0	1	0	21	100
ZNF425	155054	broad.mit.edu	37	7	148801988	148801988	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	325					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)			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)			GCTTCTCTCCGCTGTGCAGCC	0.667																																						ENST00000378061.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				50						c.(973-975)agC>agT		zinc finger protein 425							36.0	34.0	35.0					7																	148801988		2203	4300	6503	SO:0001819	synonymous_variant	155054	1	121406	33				g.chr7:148801988G>A	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.975C>T	chr7.hg19:g.148801988G>A		0						p.S325S	NM_001001661.2	NP_001001661.1	0	0	0	1.922693	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	4	1107	-	Melanoma(164;0.15)		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	1	1	hg19	c.975C>T	CCDS34773.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.084024	1	0.170000	XM_088140			43	43		242	239	1		1	1		0	0	51	0		1	2.322530e-01	0	4	0	2	0	43	242
ZNF398	57541	broad.mit.edu	37	7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	11					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)			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)			CAGACATCTGAATGGGACTCC	0.498																																						ENST00000475153.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(31-33)gAa>gCa		zinc finger protein 398							80.0	76.0	78.0					7																	148851044		2203	4300	6503	SO:0001583	missense	57541	0	0					g.chr7:148851044A>C	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.32A>C	chr7.hg19:g.148851044A>C	ENSP00000420418:p.Glu11Ala	0					ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR	p.E11A			0	0	0	1.922693	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)	2	299	+	Melanoma(164;0.15)		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	1	1	hg19	c.32A>C	CCDS5894.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953521	0.73902	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	3.13;2.93	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.48767	D	0.000172	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	T	0.01993	-1.1233	10	0.87932	D	0	-15.7009	11.2938	0.49267	1.0:0.0:0.0:0.0	.	16;11	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	11;16	ENSP00000420418:E11A;ENSP00000439340:E16A	ENSP00000420418:E11A	E	+	2	0	0	ZNF398	148481977	148481977	0.991000	0.36638	1.000000	0.80357	0.924000	0.55760	2.545000	0.45769	1.916000	0.55485	0.460000	0.39030	GAA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				75	75		379	371	1		1	1		0	0	93	0		1	5.667536e-01	0	2	0	9	0	75	379
ZNF398	57541	broad.mit.edu	37	7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	123					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)			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)			CTGCGCAACAGGAACTTCTGG	0.537																																						ENST00000475153.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(367-369)aGg>aTg		zinc finger protein 398							52.0	56.0	54.0					7																	148851380		2203	4300	6503	SO:0001583	missense	57541	0	0					g.chr7:148851380G>T	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.368G>T	chr7.hg19:g.148851380G>T	ENSP00000420418:p.Arg123Met	0					ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR	p.R123M			0	0	0	1.922693	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)	2	635	+	Melanoma(164;0.15)		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	1	1	hg19	c.368G>T	CCDS5894.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000785	0.74818	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10860	2.83;2.84	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000058	T	0.30916	0.0780	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.00995	-1.1487	10	0.54805	T	0.06	-22.2834	14.2249	0.65853	0.0:0.0:1.0:0.0	.	128;123	B4DXA9;Q8TD17	.;ZN398_HUMAN	M	123;128	ENSP00000420418:R123M;ENSP00000439340:R128M	ENSP00000420418:R123M	R	+	2	0	0	ZNF398	148482313	148482313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.382000	0.44345	2.420000	0.82092	0.655000	0.94253	AGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000				74	74		406	398	1		1	1		0	0	101	0		1	9.411273e-01	0	12	0	16	0	74	406
ZNF282	8427	broad.mit.edu	37	7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	506					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)			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)		GGGCTGCGGCGGAGCCTCCTC	0.781																																						ENST00000262085.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				17						c.(1516-1518)cGg>cAg		zinc finger protein 282							5.0	5.0	5.0					7																	148921240		2087	4123	6210	SO:0001583	missense	8427	0	0					g.chr7:148921240G>A	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.1517G>A	chr7.hg19:g.148921240G>A	ENSP00000262085:p.Arg506Gln	0					ZNF282_ENST00000479907.1_Intron	p.R506Q	NM_003575.2	NP_003566.1	0	0	0	1.922693	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	8	1622	+	Melanoma(164;0.15)		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	0	1	hg19	c.1517G>A	CCDS5895.1	1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894851	0.52121	.	.	ENSG00000170265	ENST00000262085	T	0.06768	3.26	3.82	2.01	0.26516	3.82	2.01	0.26516	.	0.185108	0.26439	N	0.024368	T	0.05777	0.0151	L	0.32530	0.975	0.40470	D	0.980339	B	0.14438	0.01	B	0.04013	0.001	T	0.37291	-0.9712	10	0.29301	T	0.29	-21.4411	5.9703	0.19349	0.2448:0.0:0.7552:0.0	.	506	Q9UDV7	ZN282_HUMAN	Q	506	ENSP00000262085:R506Q	ENSP00000262085:R506Q	R	+	2	0	0	ZNF282	148552173	148552173	0.000000	0.05858	0.059000	0.19551	0.327000	0.28475	0.042000	0.13949	0.303000	0.22785	0.561000	0.74099	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.781	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_003575			22	22		44	41	0		1	1		0	0	11	0		9.999996e-01	7.975606e-01	0	2	0	6	0	22	44
ZNF282	8427	broad.mit.edu	37	7	148921304	148921304	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	527					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)			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)		GCAAGAGCTTCGGCGTGCGCA	0.697																																						ENST00000262085.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				17						c.(1579-1581)ttC>ttT		zinc finger protein 282							25.0	24.0	25.0					7																	148921304		2203	4299	6502	SO:0001819	synonymous_variant	8427	2	121364	29				g.chr7:148921304C>T	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.1581C>T	chr7.hg19:g.148921304C>T		0					ZNF282_ENST00000479907.1_Intron	p.F527F	NM_003575.2	NP_003566.1	0	0	0	1.922693	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	8	1686	+	Melanoma(164;0.15)		B4DRI5|O43691|Q6DKK0	Silent	SNP	ENST00000262085.3	1	1	hg19	c.1581C>T	CCDS5895.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	1	0	0		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_003575			40	39		155	153	0		1	1		0	0	39	0		1	9.975540e-01	0	13	0	26	0	40	155
ZNF212	7988	broad.mit.edu	37	7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	350					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)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572																																						ENST00000335870.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				9						c.(1048-1050)Gag>Tag		zinc finger protein 212							43.0	39.0	40.0					7																	148951066		2203	4300	6503	SO:0001587	stop_gained	7988	0	0					g.chr7:148951066G>T	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.1048G>T	chr7.hg19:g.148951066G>T	ENSP00000338572:p.Glu350*	0						p.E350*	NM_012256.3	NP_036388.2	0	0	0	1.922693	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	5	1176	+	Melanoma(164;0.15)		B2RCF4|Q13396|Q8N664	Nonsense_Mutation	SNP	ENST00000335870.2	0	1	hg19	c.1048G>T	CCDS5896.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011410	0.54468	.	.	ENSG00000170260	ENST00000335870	.	.	.	4.99	3.18	0.36537	4.99	3.18	0.36537	.	0.811066	0.10930	N	0.618502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.6687	9.7827	0.40658	0.1718:0.0:0.8282:0.0	.	.	.	.	X	350	.	ENSP00000338572:E350X	E	+	1	0	0	ZNF212	148581999	148581999	0.733000	0.28132	0.314000	0.25224	0.078000	0.17371	3.391000	0.52530	0.618000	0.30179	0.561000	0.74099	GAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-20.000000	1	0.170000	NM_012256			34	29		117	113	0		1	1		0	0	39	0		1	9.996366e-01	0	12	0	33	0	34	117
ZNF777	27153	broad.mit.edu	37	7	149128930	149128930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	727					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721																																						ENST00000247930.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.998018	0.990000	1.000000																										0				26						c.(2431-2433)tgC>tgT		zinc finger protein 777							21.0	24.0	23.0					7																	149128930		2201	4295	6496	SO:0001819	synonymous_variant	27153	1	120952	22				g.chr7:149128930G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2433C>T	chr7.hg19:g.149128930G>A		0						p.C811C	NM_015694.2	NP_056509.2	0	0	0	1.922693	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	6	2756	-	Melanoma(164;0.165)		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	1	1	hg19	c.2433C>T	CCDS43675.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_015694			25	25		156	152	0		1	0		0	0	26	0		9.999999e-01	1.003451e-01	0	1	0	3	0	25	156
ZNF777	27153	broad.mit.edu	37	7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657																																						ENST00000247930.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				26						c.(1621-1623)Cgc>Tgc		zinc finger protein 777							35.0	37.0	37.0					7																	149129742		2189	4291	6480	SO:0001583	missense	27153	1	121208	27				g.chr7:149129742G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1621C>T	chr7.hg19:g.149129742G>A	ENSP00000247930:p.Arg541Cys	0						p.R541C	NM_015694.2	NP_056509.2	0	0	0	1.922693	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	6	1944	-	Melanoma(164;0.165)		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	1	1	hg19	c.1621C>T	CCDS43675.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289908	0.59976	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05925	3.37	4.59	3.66	0.41972	4.59	3.66	0.41972	.	0.143056	0.29293	N	0.012565	T	0.08935	0.0221	L	0.42581	1.335	0.43540	D	0.995839	D	0.60160	0.987	P	0.46825	0.528	T	0.04320	-1.0960	10	0.87932	D	0	-27.4626	11.8466	0.52387	0.0:0.0:0.8254:0.1746	.	541	Q9ULD5-2	.	C	541;284	ENSP00000247930:R541C	ENSP00000247930:R541C	R	-	1	0	0	ZNF777	148760675	148760675	0.020000	0.18652	0.986000	0.45419	0.987000	0.75469	1.327000	0.33746	2.376000	0.81061	0.460000	0.39030	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	1	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_015694			33	33		139	139	1		1	1		0	0	20	0		1	8.582450e-01	0	2	0	15	0	33	139
KRBA1	84626	broad.mit.edu	37	7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000485033.2	+	5	541	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637																																						ENST00000485033.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.997103	0.990000	1.000000																										0				27						c.(541-543)Cat>Tat		KRAB-A domain containing 1							20.0	24.0	23.0					7																	149419587		1841	4076	5917	SO:0001583	missense	84626	0	0					g.chr7:149419587C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.541C>T	chr7.hg19:g.149419587C>T	ENSP00000420112:p.His181Tyr	0					KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y	p.H181Y			0	0	0	1.922693	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	5	541	+	Melanoma(164;0.165)|Ovarian(565;0.177)		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	1	1	hg19	c.541C>T		1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101931	0.01828	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30182	1.54;1.54;1.54	4.25	-0.873	0.10635	4.25	-0.873	0.10635	.	1.625990	0.03280	N	0.186087	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.18276	T	0.48	6.4057	3.6635	0.08247	0.1675:0.2221:0.0:0.6104	.	181	A5PL33	KRBA1_HUMAN	Y	181	ENSP00000255992:H181Y;ENSP00000317165:H181Y;ENSP00000420112:H181Y	ENSP00000255992:H181Y	H	+	1	0	0	KRBA1	149050520	149050520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.335000	0.08451	-1.099000	0.02127	CAT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-11.299830	1	0.170000	NM_032534			13	13		53	51	0		1	1		0	0	14	0		9.996538e-01	3.584750e-01	0	2	0	4	0	13	53
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	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)			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)			TGCCGCACTCCGCGCACGGGT	0.677																																						ENST00000302017.3	1.000000	0.720000	1	9.400000e-01	0.990000	0.971742	0.990000	1.000000																										0				13						c.(739-741)gcG>gcA		zinc finger protein 467							28.0	22.0	24.0					7																	149462850		2203	4300	6503	SO:0001819	synonymous_variant	168544	1	121222	18				g.chr7:149462850C>T	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.741G>A	chr7.hg19:g.149462850C>T		0					ZNF467_ENST00000484747.1_Intron	p.A247A	NM_207336.1	NP_997219.1	0	0	0	1.922693	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	5	1154	-	Melanoma(164;0.165)|Ovarian(565;0.177)			Silent	SNP	ENST00000302017.3	1	1	hg19	c.741G>A	CCDS5899.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-19.894730	1	0.170000	NM_207336			13	13		99	98	1		1	0		0	0	25	0		9.996203e-01	1.206142e-01	0	1	0	4	0	13	99
ZNF467	168544	broad.mit.edu	37	7	149467528	149467528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CTGTTACCTACCTGAGCACAC	0.612																																						ENST00000302017.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999695	0.990000	1.000000																										0				13						c.e3+1		zinc finger protein 467							57.0	57.0	57.0					7																	149467528		2203	4300	6503	SO:0001630	splice_region_variant	168544	1	121410	28				g.chr7:149467528C>T	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.151+1G>A	chr7.hg19:g.149467528C>T		0					ZNF467_ENST00000484747.1_Splice_Site		NM_207336.1	NP_997219.1	0	0	0	1.922693	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	3	565	-	Melanoma(164;0.165)|Ovarian(565;0.177)			Splice_Site	SNP	ENST00000302017.3	1	1	hg19		CCDS5899.1	1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612050	0.28712	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.93	3.93	0.45458	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4988	0.61442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ZNF467	149098461	149098461	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	3.805000	0.55575	2.023000	0.59567	0.556000	0.70494	.	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_207336	Intron		34	34		199	194	1		1			0	0	54	0		1	0	0	0	0	0	0	34	199
SSPO	23145	broad.mit.edu	37	7	149477527	149477527	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	ENST00000378016.2	+	0	1598							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)			CGCCAGCGCTATGTACCCGGT	0.647																																						ENST00000378016.2	1.000000	0.750000	1	9.600000e-01	0.990000	0.976532	0.990000	1.000000																										0												SCO-spondin							31.0	41.0	38.0					7																	149477527		2164	4262	6426			23145	0	0					g.chr7:149477527A>G	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		chr7.hg19:g.149477527A>G		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	1598	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-19.999750	1	0.170000				15	14		115	112	0		1			0	0	27	0		9.998794e-01	0	0	0	0	0	0	15	115
SSPO	23145	broad.mit.edu	37	7	149479934	149479934	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	ENST00000378016.2	+	0	1900							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)			CCCTGTTCCAGGAGCTGTGCT	0.607																																						ENST00000378016.2	0.950000	0.260000	7.500000e-01	3.800000e-01	0.540000	0.571947	0.540000	1.000000																										0												SCO-spondin							36.0	40.0	38.0					7																	149479934		2079	4194	6273			23145	0	0					g.chr7:149479934G>T	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		chr7.hg19:g.149479934G>T		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	1900	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	1	0	hg19			0																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-3.175044	1	0.170000				8	7		161	160	0		1			0	0	33	0		9.893969e-01	0	0	0	0	0	0	8	161
SSPO	23145	broad.mit.edu	37	7	149481008	149481008	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	ENST00000378016.2	+	0	2490							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)			GTCCTGGTGGCCAGGAGTACC	0.622																																						ENST00000378016.2	1.000000	0.920000	1	9.900000e-01	0.990000	0.995561	0.990000	1.000000																										0												SCO-spondin							46.0	51.0	49.0					7																	149481008		2137	4244	6381			23145	0	0					g.chr7:149481008C>T	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		chr7.hg19:g.149481008C>T		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	2490	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-20.000000	1	0.170000				19	18		117	115	0		1	0		0	0	42	0		9.999929e-01	0	0	0	0	1	0	19	117
SSPO	23145	broad.mit.edu	37	7	149482714	149482714	+	RNA	SNP	G	G	T	rs369722117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149482714G>T	ENST00000378016.2	+	0	3130							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)			GGTGCGAGAGGCCAGTGGCCT	0.637																																						ENST00000378016.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.985828	0.990000	1.000000																										0												SCO-spondin							21.0	26.0	24.0					7																	149482714		2074	4201	6275			23145	0	0					g.chr7:149482714G>T	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		chr7.hg19:g.149482714G>T		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	3130	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-18.759480	1	0.170000				10	10		54	53	0		1			0	0	13	0		9.974536e-01	0	0	0	0	0	0	10	54
SSPO	23145	broad.mit.edu	37	7	149489462	149489462	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	ENST00000378016.2	+	0	5615							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)			CCCTGCCTGGTGGACGGTGCC	0.701																																						ENST00000378016.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994185	0.990000	1.000000																										0												SCO-spondin							13.0	21.0	18.0					7																	149489462		2113	4208	6321			23145	0	0					g.chr7:149489462T>C	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		chr7.hg19:g.149489462T>C		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	5615	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.981350	1	0.170000				11	11		47	47	0		1			0	0	13	0		9.987590e-01	0	0	0	0	0	0	11	47
SSPO	23145	broad.mit.edu	37	7	149490411	149490411	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	ENST00000378016.2	+	0	5887							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)			CCAGACGGAGCCCTGTGAGGG	0.647																																						ENST00000378016.2	1.000000	0.930000	1	9.900000e-01	0.990000	0.996032	0.990000	1.000000																										0												SCO-spondin							24.0	28.0	27.0					7																	149490411		1979	4162	6141			23145	0	0					g.chr7:149490411C>T	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		chr7.hg19:g.149490411C>T		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	5887	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-3.366732	1	0.170000				17	17		96	95	0		1			0	0	25	0		9.999768e-01	0	0	0	0	0	0	17	96
SSPO	23145	broad.mit.edu	37	7	149499027	149499027	+	RNA	SNP	G	G	A	rs147684856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	ENST00000378016.2	+	0	7479							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)			AGGATGGCTCGGACGAGGATG	0.697													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16638	0.0		0.001	False		,,,				2504	0.0					ENST00000378016.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994224	0.990000	1.000000																										0												SCO-spondin		G		1,4255		0,1,2127	20.0	22.0	22.0		7483	-8.7	0.0	7	dbSNP_134	22	7,8437		0,7,4215	yes	coding-notMod3	SSPO	NM_198455.2		0,8,6342	AA,AG,GG		0.0829,0.0235,0.063			149499027	8,12692	2128	4222	6350			23145	37	120544	44				g.chr7:149499027G>A	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		chr7.hg19:g.149499027G>A		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	7479	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	1	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-3.221883	1	0.170000				20	20		132	131	0		1			0	0	35	0		9.999968e-01	0	0	0	0	0	0	20	132
SSPO	23145	broad.mit.edu	37	7	149509003	149509003	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	ENST00000378016.2	+	0	9549							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)			CCCTAGGTGAGCCCACGTGGT	0.672																																						ENST00000378016.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998822	0.990000	1.000000																										0												SCO-spondin							28.0	33.0	31.0					7																	149509003		2101	4213	6314			23145	0	0					g.chr7:149509003G>A	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		chr7.hg19:g.149509003G>A		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	9549	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				32	32		209	205	0		1		0	0	0	39	0		1	0	0	0	0	0	1	32	209
SSPO	23145	broad.mit.edu	37	7	149514988	149514988	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	ENST00000378016.2	+	0	11378							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)			TCTTCCCCCAGCTCGTGTGCA	0.662																																						ENST00000378016.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0												SCO-spondin							38.0	42.0	41.0					7																	149514988		1981	4150	6131			23145	1	120880	24				g.chr7:149514988G>T	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		chr7.hg19:g.149514988G>T		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	11378	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	1	0	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		1	0	0		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000				45	43		171	165	1		1			0	0	44	0		1	0	0	0	0	0	0	45	171
SSPO	23145	broad.mit.edu	37	7	149520498	149520498	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	ENST00000378016.2	+	0	13316							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)			TGTGCTGGGCTCTGTGCCACA	0.662																																						ENST00000378016.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0												SCO-spondin							46.0	54.0	52.0					7																	149520498		2046	4204	6250			23145	0	0					g.chr7:149520498T>G	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		chr7.hg19:g.149520498T>G		0									0	0	0	1.922693	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	13316	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000				73	71		342	333	0		1			0	0	73	0		1	0	0	0	0	0	0	73	342
ZNF862	643641	broad.mit.edu	37	7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	218					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)			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						GCCCGGTTCCGGAGCATCAGA	0.592																																						ENST00000223210.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				34						c.(652-654)cGg>cAg		zinc finger protein 862							52.0	55.0	54.0					7																	149545235		1949	4152	6101	SO:0001583	missense	643641	7	120880	37				g.chr7:149545235G>A	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.653G>A	chr7.hg19:g.149545235G>A	ENSP00000223210:p.Arg218Gln	0						p.R218Q	NM_001099220.1	NP_001092690.1	0	0	0	1.922693	O60290	ZN862_HUMAN		4	898	+			A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	1	1	hg19	c.653G>A	CCDS47741.1	1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107865	0.08780	.	.	ENSG00000106479	ENST00000223210	T	0.01043	5.41	5.39	-3.5	0.04710	5.39	-3.5	0.04710	Zinc finger, TTF-type (1);	1.396590	0.04656	N	0.408112	T	0.00552	0.0018	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08381	T	0.77	-2.0822	11.3389	0.49520	0.4317:0.0:0.5683:0.0	.	218	O60290	ZN862_HUMAN	Q	218	ENSP00000223210:R218Q	ENSP00000223210:R218Q	R	+	2	0	0	ZNF862	149176168	149176168	0.000000	0.05858	0.005000	0.12908	0.812000	0.45895	-0.803000	0.04540	-0.636000	0.05524	-0.150000	0.13652	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	0	0	1		18	3	2	1		1	1	44		44	44	1	2.060000	-2.976953	1	0.170000	NM_001099220			44	44		215	210	1		1	0		1	0	44	0		9.998471e-01	6.517180e-01	0	2	0	17	0	44	215
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	939					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)			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						GTTTGACGCAGACCGACCCCC	0.547																																						ENST00000223210.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2815-2817)Gac>Tac		zinc finger protein 862							122.0	129.0	127.0					7																	149559064		2049	4179	6228	SO:0001583	missense	643641	0	0					g.chr7:149559064G>T	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.2815G>T	chr7.hg19:g.149559064G>T	ENSP00000223210:p.Asp939Tyr	0					RP4-751H13.7_ENST00000608963.1_RNA	p.D939Y	NM_001099220.1	NP_001092690.1	0	0	0	1.922693	O60290	ZN862_HUMAN		7	3060	+			A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	1	1	hg19	c.2815G>T	CCDS47741.1	1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280198	0.10458	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.39	3.55	0.40652	5.39	3.55	0.40652	.	0.225743	0.30911	N	0.008632	T	0.01061	0.0035	L	0.27053	0.805	0.29742	N	0.837006	P	0.44877	0.845	B	0.39840	0.311	T	0.48703	-0.9012	10	0.51188	T	0.08	-18.637	7.7891	0.29110	0.0885:0.1623:0.7492:0.0	.	939	O60290	ZN862_HUMAN	Y	939	ENSP00000223210:D939Y	ENSP00000223210:D939Y	D	+	1	0	0	ZNF862	149189997	149189997	0.099000	0.21834	0.780000	0.31762	0.275000	0.26752	1.241000	0.32743	1.255000	0.44051	0.655000	0.94253	GAC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	1		2	2	2	0		0	0	194		194	192	1	2.060000	-20.000000	1	0.170000	NM_001099220			100	99		609	594	1		1	1		0	0	194	0		1	4.254333e-01	0	2	0	8	0	100	609
ZNF862	643641	broad.mit.edu	37	7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1005					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)			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						GCACCTCCCGTTCTCCATGCT	0.602																																						ENST00000223210.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				34						c.(3013-3015)Ttc>Ctc		zinc finger protein 862							46.0	52.0	50.0					7																	149559262		2081	4206	6287	SO:0001583	missense	643641	0	0					g.chr7:149559262T>C	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.3013T>C	chr7.hg19:g.149559262T>C	ENSP00000223210:p.Phe1005Leu	0					RP4-751H13.7_ENST00000608963.1_RNA	p.F1005L	NM_001099220.1	NP_001092690.1	0	0	0	1.922693	O60290	ZN862_HUMAN		7	3258	+			A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	1	1	hg19	c.3013T>C	CCDS47741.1	1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723757	0.30593	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.39	4.24	0.50183	5.39	4.24	0.50183	HAT dimerisation (1);	0.109105	0.41396	N	0.000896	T	0.01905	0.0060	M	0.62723	1.935	0.29944	N	0.820842	B	0.20887	0.049	B	0.26693	0.072	T	0.10776	-1.0615	10	0.48119	T	0.1	.	8.0079	0.30336	0.0:0.0917:0.0:0.9083	.	1005	O60290	ZN862_HUMAN	L	1005	ENSP00000223210:F1005L	ENSP00000223210:F1005L	F	+	1	0	0	ZNF862	149190195	149190195	0.976000	0.34144	0.770000	0.31555	0.858000	0.48976	2.150000	0.42254	0.897000	0.36392	0.533000	0.62120	TTC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	0		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_001099220			42	41		241	233	1		1	1		0	0	69	0		1	7.095003e-01	0	4	0	12	0	42	241
ZNF862	643641	broad.mit.edu	37	7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1036					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)			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						CCCATCTCCACCTCTTGCTGT	0.587																																						ENST00000223210.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				34						c.(3106-3108)aCc>aTc		zinc finger protein 862							48.0	56.0	53.0					7																	149559356		2125	4231	6356	SO:0001583	missense	643641	0	0					g.chr7:149559356C>T	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.3107C>T	chr7.hg19:g.149559356C>T	ENSP00000223210:p.Thr1036Ile	0					RP4-751H13.7_ENST00000608963.1_RNA	p.T1036I	NM_001099220.1	NP_001092690.1	0	0	0	1.922693	O60290	ZN862_HUMAN		7	3352	+			A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	1	1	hg19	c.3107C>T	CCDS47741.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751826	0.49362	.	.	ENSG00000106479	ENST00000223210	T	0.24151	1.87	5.39	3.51	0.40186	5.39	3.51	0.40186	HAT dimerisation (1);Ribonuclease H-like (1);	0.119463	0.37669	N	0.001994	T	0.42017	0.1184	M	0.70275	2.135	0.27088	N	0.962921	D	0.63046	0.992	P	0.60012	0.867	T	0.27331	-1.0077	10	0.56958	D	0.05	-24.2793	8.668	0.34132	0.1725:0.6614:0.1662:0.0	.	1036	O60290	ZN862_HUMAN	I	1036	ENSP00000223210:T1036I	ENSP00000223210:T1036I	T	+	2	0	0	ZNF862	149190289	149190289	0.982000	0.34865	0.996000	0.52242	0.954000	0.61252	2.076000	0.41548	0.597000	0.29811	0.655000	0.94253	ACC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_001099220			32	31		130	128	1		1	1		0	0	34	0		1	4.966992e-01	0	3	0	5	0	32	130
REPIN1	29803	broad.mit.edu	37	7	150068918	150068918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	ENST00000425389.2	+	1	666	c.588G>T	c.(586-588)aaG>aaT	p.K196N	REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.K196N|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	196					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCCCACAAGCGGGTGCACG	0.746																																						ENST00000425389.2	1.000000	0.330000	1	5.000000e-01	0.720000	0.732500	0.720000	1.000000																										0				14						c.(586-588)aaG>aaT		replication initiator 1							10.0	12.0	11.0					7																	150068918		1869	4077	5946	SO:0001583	missense	29803	0	0					g.chr7:150068918G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.588G>T	chr7.hg19:g.150068918G>T	ENSP00000388287:p.Lys196Asn	0					REPIN1_ENST00000397281.2_Missense_Mutation_p.K196N|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000479668.1_3'UTR	p.K196N	NM_014374.3	NP_055189.2	0	0	0	1.922693	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	1	666	+	Ovarian(565;0.183)|Melanoma(164;0.226)		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	0	1	hg19	c.588G>T	CCDS43677.1	0	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885139	0.51908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.55	2.69	0.31865	4.55	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57198	0.2037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.969;0.998	T	0.57522	-0.7797	9	0.72032	D	0.01	-15.9773	5.0126	0.14321	0.1943:0.1741:0.6316:0.0	.	253;196	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	196;196;196;253;255;256;196	ENSP00000445016:K196N;ENSP00000380451:K196N;ENSP00000407714:K196N;ENSP00000417291:K253N;ENSP00000419789:K255N;ENSP00000419872:K256N;ENSP00000388287:K196N	ENSP00000380451:K196N	K	+	3	2	2	REPIN1	149699851	149699851	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.987000	0.40687	1.131000	0.42111	0.462000	0.41574	AAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-11.878180	1	0.170000	NM_014374			7	7		103	102	0		1	1		0	0	12	0		9.811330e-01	8.819496e-01	0	3	0	56	0	7	103
REPIN1	29803	broad.mit.edu	37	7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000425389.2	+	1	688	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	204					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741																																						ENST00000425389.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999784	0.990000	1.000000																										0				14						c.(610-612)Ctg>Atg		replication initiator 1							8.0	10.0	9.0					7																	150068940		1812	4036	5848	SO:0001583	missense	29803	0	0					g.chr7:150068940C>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.610C>A	chr7.hg19:g.150068940C>A	ENSP00000388287:p.Leu204Met	0					REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000479668.1_3'UTR	p.L204M	NM_014374.3	NP_055189.2	0	0	0	1.922693	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	1	688	+	Ovarian(565;0.183)|Melanoma(164;0.226)		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	1	1	hg19	c.610C>A	CCDS43677.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919909	0.33908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08720	3.09;3.09;3.09;3.06;3.4;3.2;3.09	5.08	2.25	0.28309	5.08	2.25	0.28309	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.23691	-1.0181	9	0.87932	D	0	-10.3479	5.9616	0.19303	0.0:0.6793:0.0:0.3207	.	261;204	C9J3L7;Q9BWE0	.;REPI1_HUMAN	M	204;204;204;261;263;264;204	ENSP00000445016:L204M;ENSP00000380451:L204M;ENSP00000407714:L204M;ENSP00000417291:L261M;ENSP00000419789:L263M;ENSP00000419872:L264M;ENSP00000388287:L204M	ENSP00000380451:L204M	L	+	1	2	2	REPIN1	149699873	149699873	.	.	0.962000	0.40283	0.697000	0.40408	.	.	0.521000	0.28445	0.462000	0.41574	CTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_014374			21	21		78	76	0		1	1		0	0	16	0		9.999988e-01	9.971646e-01	0	11	0	28	0	21	78
REPIN1	29803	broad.mit.edu	37	7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000425389.2	+	1	1702	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657																																						ENST00000425389.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(1624-1626)Gcc>Acc		replication initiator 1							38.0	44.0	42.0					7																	150069954		2187	4292	6479	SO:0001583	missense	29803	0	0					g.chr7:150069954G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1624G>A	chr7.hg19:g.150069954G>A	ENSP00000388287:p.Ala542Thr	0					REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR	p.A542T	NM_014374.3	NP_055189.2	0	0	0	1.922693	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	1	1702	+	Ovarian(565;0.183)|Melanoma(164;0.226)		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	1	1	hg19	c.1624G>A	CCDS43677.1	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373731	0.42105	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.17	3.24	0.37175	4.17	3.24	0.37175	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18509	0.0444	N	0.13352	0.335	0.80722	D	1	B;B	0.22146	0.03;0.065	B;B	0.04013	0.001;0.001	T	0.10109	-1.0644	9	0.87932	D	0	-14.6073	11.6665	0.51376	0.0:0.1955:0.8045:0.0	.	599;542	C9J3L7;Q9BWE0	.;REPI1_HUMAN	T	542;542;542;599;542	ENSP00000445016:A542T;ENSP00000380451:A542T;ENSP00000407714:A542T;ENSP00000417291:A599T;ENSP00000388287:A542T	ENSP00000380451:A542T	A	+	1	0	0	REPIN1	149700887	149700887	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.903000	0.28475	2.171000	0.68590	0.563000	0.77884	GCC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014374			48	48		219	215	1		1	1		0	0	51	0		1	1	0	48	0	112	0	48	219
ZNF775	285971	broad.mit.edu	37	7	150094568	150094568	+	Silent	SNP	C	C	T	rs535894219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		4812	0.001		0.0	False		,,,				2504	0.0					ENST00000329630.5	1.000000	0.850000	1	9.900000e-01	0.990000	0.990662	0.990000	1.000000																										0				11						c.(997-999)ggC>ggT		zinc finger protein 775							9.0	11.0	10.0					7																	150094568		2127	4227	6354	SO:0001819	synonymous_variant	285971	6	117446	33				g.chr7:150094568C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.999C>T	chr7.hg19:g.150094568C>T		0						p.G333G	NM_173680.3	NP_775951.2	0	0	0	1.922693	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	3	1106	+	Ovarian(565;0.183)|Melanoma(164;0.226)		Q8IY24	Silent	SNP	ENST00000329630.5	0	1	hg19	c.999C>T	CCDS43678.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	1	0	0		2	2	2	0		0	0	19		19	18	1	2.060000	-20.000000	1	0.170000	NM_173680			16	15		104	104	0		1	1		0	0	19	0		9.999514e-01	2.039184e-02	0	2	0	0	0	16	104
ZNF775	285971	broad.mit.edu	37	7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					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)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741																																						ENST00000329630.5	1.000000	0.730000	1	9.900000e-01	0.990000	0.978631	0.990000	1.000000																										0				11						c.(1042-1044)caG>caT		zinc finger protein 775							4.0	5.0	5.0					7																	150094613		1879	3801	5680	SO:0001583	missense	285971	0	0					g.chr7:150094613G>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1044G>T	chr7.hg19:g.150094613G>T	ENSP00000330838:p.Gln348His	0						p.Q348H	NM_173680.3	NP_775951.2	0	0	0	1.922693	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	3	1151	+	Ovarian(565;0.183)|Melanoma(164;0.226)		Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	0	1	hg19	c.1044G>T	CCDS43678.1	1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306995	0.60305	.	.	ENSG00000196456	ENST00000329630	T	0.15487	2.42	3.78	3.78	0.43462	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	N	0.21142	0.635	0.29595	N	0.848147	P	0.47604	0.898	P	0.57204	0.815	T	0.03566	-1.1024	8	.	.	.	.	7.0796	0.25223	0.1239:0.0:0.8761:0.0	.	348	Q96BV0	ZN775_HUMAN	H	348	ENSP00000330838:Q348H	.	Q	+	3	2	2	ZNF775	149725546	149725546	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	0.056000	0.14256	1.931000	0.55961	0.313000	0.20887	CAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-19.588080	1	0.170000	NM_173680			8	8		42	42	0		1			0	0	10	0		9.914174e-01	0	0	0	0	0	0	8	42
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	G	A	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A412A(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)		AAAGGCAGGCGGACGAGCTCC	0.413													g|||	2	0.000399361	0.0	0.0014	5008	,	,		14061	0.0		0.001	False		,,,				2504	0.0					ENST00000307271.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A412A(1)	lung(1)	62						c.(1234-1236)gcG>gcA		GTPase, IMAP family member 8		A		0,4406		0,0,2203	91.0	99.0	96.0		1236	-2.8	0.0	7	dbSNP_134	96	9,8591	818.9+/-406.8	0,9,4291	no	coding-synonymous	GIMAP8	NM_175571.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		412/666	150171653	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	155038	53	121406	50				g.chr7:150171653G>A	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.1236G>A	chr7.hg19:g.150171653G>A		0						p.A412A	NM_175571.2	NP_783161.1	0	0	0	1.922693	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	4	1810	+				Silent	SNP	ENST00000307271.3	1	1	hg19	c.1236G>A	CCDS34777.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	1	0	1		2	2	2	0		0	0	94		94	92	1	2.060000	-2.776443	1	0.170000	NM_175571			83	81		446	439	1		1	0		0	0	94	0		1	9.790204e-01	0	0	0	35	0	83	446
GIMAP8	155038	broad.mit.edu	37	7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	611	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			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)		CCAGGCCCAGGAAACCCAGGT	0.453																																						ENST00000307271.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1831-1833)Gaa>Aaa		GTPase, IMAP family member 8							75.0	89.0	84.0					7																	150174701		2202	4300	6502	SO:0001583	missense	155038	0	0					g.chr7:150174701G>A	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.1831G>A	chr7.hg19:g.150174701G>A	ENSP00000305107:p.Glu611Lys	0						p.E611K	NM_175571.2	NP_783161.1	0	0	0	1.922693	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	5	2405	+				Missense_Mutation	SNP	ENST00000307271.3	1	1	hg19	c.1831G>A	CCDS34777.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904574	0.72868	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	3.51	0.40186	4.44	3.51	0.40186	AIG1 (1);	0.000000	0.44097	D	0.000486	T	0.15435	0.0372	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.00888	-1.1526	10	0.72032	D	0.01	.	10.3555	0.43960	0.0:0.1985:0.8015:0.0	.	611	Q8ND71	GIMA8_HUMAN	K	611	ENSP00000305107:E611K	ENSP00000305107:E611K	E	+	1	0	0	GIMAP8	149805634	149805634	0.002000	0.14202	0.024000	0.17045	0.006000	0.05464	0.487000	0.22356	2.321000	0.78463	0.655000	0.94253	GAA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-20.000000	1	0.170000	NM_175571			101	99		503	488	1		1	0		0	0	137	0		1	9.907128e-01	0	0	0	38	0	101	503
GIMAP4	55303	broad.mit.edu	37	7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	314						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCATGACAGCGTTACAGAT	0.408																																						ENST00000255945.2	0.780000	0.310000	6.500000e-01	4.000000e-01	0.520000	0.537262	0.520000	0.520000																										0				14						c.(940-942)Gcg>Acg		GTPase, IMAP family member 4							136.0	117.0	123.0					7																	150270098		2203	4300	6503	SO:0001583	missense	55303	0	0					g.chr7:150270098G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.940G>A	chr7.hg19:g.150270098G>A	ENSP00000255945:p.Ala314Thr	0					GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	p.A314T	NM_018326.2	NP_060796.1	0	0	0	1.922693	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	3	1115	+				Missense_Mutation	SNP	ENST00000255945.2	1	1	hg19	c.940G>A	CCDS5904.1	0	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136903	0.21123	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.05855	3.41;3.38	4.82	-4.67	0.03319	4.82	-4.67	0.03319	.	3.210380	0.00977	N	0.003336	T	0.05456	0.0144	L	0.53249	1.67	0.09310	N	1	B;B	0.17465	0.021;0.022	B;B	0.15484	0.013;0.008	T	0.37979	-0.9682	10	0.11794	T	0.64	.	0.1662	0.00108	0.305:0.229:0.233:0.2329	.	328;314	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	314;328;246	ENSP00000255945:A314T;ENSP00000419545:A328T	ENSP00000255945:A314T	A	+	1	0	0	GIMAP4	149901031	149901031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.027000	0.03592	-0.930000	0.03752	-0.169000	0.13324	GCG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-17.893190	1	0.170000	NM_018326			17	16		354	345	0		1	0		0	0	83	0		9.999591e-01	9.973565e-01	0	0	0	202	0	17	354
GIMAP1	170575	broad.mit.edu	37	7	150417218	150417218	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	42	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAGCGCCACTGGGAACA	0.627																																						ENST00000307194.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(124-126)gcC>gcA		GTPase, IMAP family member 1							74.0	81.0	78.0					7																	150417218		2203	4300	6503	SO:0001819	synonymous_variant	170575	0	0					g.chr7:150417218C>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.126C>A	chr7.hg19:g.150417218C>A		0						p.A42A	NM_130759.3	NP_570115.1	0	0	0	1.922693	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	3	266	+			B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	1	1	hg19	c.126C>A	CCDS5906.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	0	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-3.534142	1	0.170000	NM_130759			164	165		674	667	1		1	0		0	0	170	0		1	9.999596e-01	0	0	0	61	0	164	674
GIMAP1	170575	broad.mit.edu	37	7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	202	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCCAGGTGGAGCAGCTGCT	0.682																																						ENST00000307194.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999338	0.990000	1.000000																										0				28						c.(604-606)Gag>Aag		GTPase, IMAP family member 1							23.0	29.0	27.0					7																	150417696		2202	4300	6502	SO:0001583	missense	170575	0	0					g.chr7:150417696G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.604G>A	chr7.hg19:g.150417696G>A	ENSP00000302833:p.Glu202Lys	0						p.E202K	NM_130759.3	NP_570115.1	0	0	0	1.922693	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	3	744	+			B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	0	1	hg19	c.604G>A	CCDS5906.1	1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148281	0.01714	.	.	ENSG00000213203	ENST00000307194	T	0.05081	3.5	4.81	-9.61	0.00550	4.81	-9.61	0.00550	AIG1 (1);	1.483890	0.04627	U	0.402865	T	0.01730	0.0055	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.02654	T	1	.	9.6635	0.39969	0.3531:0.5014:0.1455:0.0	.	202	Q8WWP7	GIMA1_HUMAN	K	202	ENSP00000302833:E202K	ENSP00000302833:E202K	E	+	1	0	0	GIMAP1	150048629	150048629	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.913000	0.00697	-2.035000	0.00923	-0.172000	0.13284	GAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_130759			27	27		152	148	1		1	0		0	0	18	0		1	9.964583e-01	0	0	0	53	0	27	152
GIMAP5	55340	broad.mit.edu	37	7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	269					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)			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)		AACTGGGCATACAAGGCGCTC	0.453																																						ENST00000358647.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				19						c.(805-807)tAc>tGc		GTPase, IMAP family member 5							104.0	77.0	86.0					7																	150440033		2203	4300	6503	SO:0001583	missense	55340	1	121412	30				g.chr7:150440033A>G	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.806A>G	chr7.hg19:g.150440033A>G	ENSP00000351473:p.Tyr269Cys	0					GIMAP5_ENST00000479556.1_3'UTR	p.Y269C	NM_018384.4	NP_060854.2	0	0	0	1.922693	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	3	1173	+			D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	1	1	hg19	c.806A>G	CCDS5907.1	1	.	.	.	.	.	.	.	.	.	.	A	3.517	-0.098624	0.07010	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05786	3.39	4.12	-8.24	0.01029	4.12	-8.24	0.01029	.	3.840650	0.00550	N	0.000240	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.38643	T	0.18	.	6.2565	0.20877	0.2077:0.0806:0.5671:0.1446	.	269	Q96F15	GIMA5_HUMAN	C	269;305	ENSP00000351473:Y269C	ENSP00000351473:Y269C	Y	+	2	0	0	GIMAP5	150070966	150070966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.358000	0.00069	-2.620000	0.00440	-2.048000	0.00412	TAC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_018384			54	54		276	273	1		1	0		0	0	58	0		1	9.999959e-01	0	0	0	96	0	54	276
KCNH2	3757	broad.mit.edu	37	7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000262186.5	-	7	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	549					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000262186.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				42						c.(1645-1647)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)						68.0	56.0	60.0					7																	150648836		2203	4300	6503	SO:0001583	missense	3757	0	0					g.chr7:150648836C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1645G>A	chr7.hg19:g.150648836C>T	ENSP00000262186:p.Val549Met	0					KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M|KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M	p.V549M	NM_000238.3	NP_000229.1	0	0	0	1.922693	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	7	2046	-	all_neural(206;0.219)		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	1	1	hg19	c.1645G>A	CCDS5910.1	1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150737	0.57151	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	4.08	4.08	0.47627	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.71206	2.165	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;0.961;0.995;0.975	D;D;P;P;P	0.91635	0.999;0.997;0.557;0.906;0.526	D	0.98021	1.0371	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	453;549;209;549;209	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	M	209;453;549;209;549	ENSP00000328531:V209M;ENSP00000376695:V453M;ENSP00000262186:V549M;ENSP00000387657:V549M	ENSP00000262186:V549M	V	-	1	0	0	KCNH2	150279769	150279769	1.000000	0.71417	0.992000	0.48379	0.132000	0.20833	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_000238			50	47		226	224	1		1	0		0	0	46	0		1	7.481116e-01	0	0	0	14	0	50	226
KCNH2	3757	broad.mit.edu	37	7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T	rs376021230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000262186.5	-	7	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	547					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.A547T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000262186.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.A547T(1)	large_intestine(1)	42						c.(1639-1641)Gcg>Acg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	60.0	51.0	54.0		1639,619,1639,619	4.1	1.0	7		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	547/1160,207/549,547/889,207/820	150648842	1,13005	2203	4300	6503	SO:0001583	missense	3757	0	0					g.chr7:150648842C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1639G>A	chr7.hg19:g.150648842C>T	ENSP00000262186:p.Ala547Thr	0					KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T|KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T	p.A547T	NM_000238.3	NP_000229.1	0	0	0	1.922693	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	7	2040	-	all_neural(206;0.219)		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	1	1	hg19	c.1639G>A	CCDS5910.1	1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678089	0.68042	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	4.08	4.08	0.47627	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	L	0.55017	1.72	0.54753	D	0.999987	D;D;P;D;P	0.89917	1.0;1.0;0.665;0.976;0.607	D;D;B;P;B	0.85130	0.997;0.995;0.255;0.782;0.23	D	0.99032	1.0821	10	0.87932	D	0	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	451;547;207;547;207	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	T	207;451;547;207;547	ENSP00000328531:A207T;ENSP00000376695:A451T;ENSP00000262186:A547T;ENSP00000387657:A547T	ENSP00000262186:A547T	A	-	1	0	0	KCNH2	150279775	150279775	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GCG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_000238			48	45		213	211	1		1	0		0	0	43	0		1	7.205224e-01	0	0	0	13	0	48	213
NOS3	4846	broad.mit.edu	37	7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000484524.1	+	2	208	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000297494.3_Missense_Mutation_p.R70C|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGTTCCCTCGTGTGAAGAA	0.637																																						ENST00000484524.1	1.000000	0.750000	1	9.500000e-01	0.990000	0.975448	0.990000	1.000000																										0				50						c.(208-210)Cgt>Tgt		nitric oxide synthase 3 (endothelial cell)							37.0	40.0	39.0					7																	150692340		2201	4296	6497	SO:0001583	missense	4846	1	120876	26				g.chr7:150692340C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.208C>T	chr7.hg19:g.150692340C>T	ENSP00000420215:p.Arg70Cys	0					NOS3_ENST00000297494.3_Missense_Mutation_p.R70C|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR	p.R70C	NM_001160111.1	NP_001153583.1	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	2	208	+	all_neural(206;0.219)		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	1	1	hg19	c.208C>T	CCDS55182.1	1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.017679	0.54576	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26067	1.76;1.76;1.76	4.2	-0.186	0.13272	4.2	-0.186	0.13272	Nitric oxide synthase, oxygenase domain (1);	0.000000	0.44902	D	0.000418	T	0.33177	0.0854	L	0.43923	1.385	0.40527	D	0.980891	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.67725	0.771;0.876;0.953;0.905	T	0.12656	-1.0539	10	0.87932	D	0	-23.0284	6.1525	0.20320	0.4592:0.4455:0.0:0.0952	.	70;70;70;70	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	C	70	ENSP00000297494:R70C;ENSP00000420215:R70C;ENSP00000420551:R70C	ENSP00000297494:R70C	R	+	1	0	0	NOS3	150323273	150323273	0.008000	0.16893	0.966000	0.40874	0.698000	0.40448	0.878000	0.28126	0.300000	0.22699	-0.174000	0.13273	CGT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000	NM_000603			19	18		157	155	1		1	0		0	0	41	0		9.999922e-01	3.118012e-01	0	0	0	10	0	19	157
NOS3	4846	broad.mit.edu	37	7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000484524.1	+	6	802	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000297494.3_Missense_Mutation_p.V268M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGCCAACGTGGAGATCAC	0.662																																						ENST00000484524.1	1.000000	0.640000	1	8.900000e-01	0.990000	0.956773	0.990000	1.000000																										0				50						c.(802-804)Gtg>Atg		nitric oxide synthase 3 (endothelial cell)							12.0	13.0	13.0					7																	150695754		2178	4268	6446	SO:0001583	missense	4846	1	119870	17				g.chr7:150695754G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.802G>A	chr7.hg19:g.150695754G>A	ENSP00000420215:p.Val268Met	0					NOS3_ENST00000297494.3_Missense_Mutation_p.V268M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M	p.V268M	NM_001160111.1	NP_001153583.1	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	6	802	+	all_neural(206;0.219)		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	0	1	hg19	c.802G>A	CCDS55182.1	1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.198993	0.79015	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.13	5.13	0.70059	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.111909	0.37857	N	0.001908	T	0.58892	0.2154	M	0.86805	2.84	0.48975	D	0.999739	D;D;D;D;D	0.64830	0.987;0.987;0.987;0.984;0.994	P;P;P;P;P	0.54499	0.689;0.689;0.754;0.636;0.638	T	0.67845	-0.5565	10	0.72032	D	0.01	-12.9524	16.4458	0.83932	0.0:0.0:1.0:0.0	.	268;268;268;62;268	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	268;62;268;268	ENSP00000297494:V268M;ENSP00000417143:V62M;ENSP00000420215:V268M;ENSP00000420551:V268M	ENSP00000297494:V268M	V	+	1	0	0	NOS3	150326687	150326687	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.725000	0.68507	2.548000	0.85928	0.637000	0.83480	GTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-15.958320	1	0.170000	NM_000603			9	9		67	65	1		1	0		0	0	10	0		9.945275e-01	9.320226e-01	0	0	0	38	0	9	67
NOS3	4846	broad.mit.edu	37	7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000484524.1	+	8	1036	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000297494.3_Missense_Mutation_p.L346M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATTGGGGGCCTGGAGTTCCC	0.637																																						ENST00000484524.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				50						c.(1036-1038)Ctg>Atg		nitric oxide synthase 3 (endothelial cell)							81.0	87.0	85.0					7																	150696357		2201	4296	6497	SO:0001583	missense	4846	0	0					g.chr7:150696357C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1036C>A	chr7.hg19:g.150696357C>A	ENSP00000420215:p.Leu346Met	0					NOS3_ENST00000297494.3_Missense_Mutation_p.L346M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M	p.L346M	NM_001160111.1	NP_001153583.1	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	8	1036	+	all_neural(206;0.219)		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	1	1	hg19	c.1036C>A	CCDS55182.1	1	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096264	0.76870	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33216	1.5;1.42;1.5;1.5	5.31	5.31	0.75309	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.44902	D	0.000414	T	0.56156	0.1966	M	0.71920	2.185	0.48087	D	0.99958	P;P;D;D;D	0.89917	0.951;0.951;0.99;1.0;0.999	D;D;D;D;D	0.97110	0.935;0.948;0.978;1.0;0.978	T	0.59563	-0.7431	10	0.87932	D	0	-8.473	16.5106	0.84283	0.0:1.0:0.0:0.0	.	346;346;346;140;346	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	346;140;346;346	ENSP00000297494:L346M;ENSP00000417143:L140M;ENSP00000420215:L346M;ENSP00000420551:L346M	ENSP00000297494:L346M	L	+	1	2	2	NOS3	150327290	150327290	0.993000	0.37304	0.995000	0.50966	0.996000	0.88848	3.120000	0.50430	2.479000	0.83701	0.639000	0.83563	CTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	0		2	2	2	0		0	0	147		147	139	1	2.060000	-20.000000	1	0.170000	NM_000603			103	103		682	667	1		1	0		0	0	147	0		1	7.586616e-01	0	0	0	20	0	103	682
NOS3	4846	broad.mit.edu	37	7	150696386	150696386	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000484524.1	+	8	1065	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000297494.3_Silent_p.G355G|NOS3_ENST00000467517.1_Silent_p.G355G	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCAGTGGCTGGTACATGA	0.642																																						ENST00000484524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1063-1065)ggC>ggT		nitric oxide synthase 3 (endothelial cell)							90.0	95.0	93.0					7																	150696386		2201	4293	6494	SO:0001819	synonymous_variant	4846	0	0					g.chr7:150696386C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1065C>T	chr7.hg19:g.150696386C>T		0					NOS3_ENST00000297494.3_Silent_p.G355G|NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G	p.G355G	NM_001160111.1	NP_001153583.1	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	8	1065	+	all_neural(206;0.219)		Q495E5	Silent	SNP	ENST00000484524.1	1	1	hg19	c.1065C>T	CCDS55182.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	0		2	2	2	0		0	0	179		179	171	1	2.060000	-20.000000	1	0.170000	NM_000603			112	111		708	690	1		1	0		0	0	179	0		1	8.210212e-01	0	0	0	22	0	112	708
NOS3	4846	broad.mit.edu	37	7	150698688	150698688	+	Silent	SNP	C	C	A	rs149990866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000484524.1	+	11	1485	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000297494.3_Silent_p.T495T|NOS3_ENST00000467517.1_Silent_p.T495T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAAGACCTTTAAAGAAG	0.642																																						ENST00000484524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1483-1485)acC>acA		nitric oxide synthase 3 (endothelial cell)							108.0	130.0	122.0					7																	150698688		2203	4300	6503	SO:0001819	synonymous_variant	4846	0	0					g.chr7:150698688C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1485C>A	chr7.hg19:g.150698688C>A		0					NOS3_ENST00000297494.3_Silent_p.T495T|NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T	p.T495T	NM_001160111.1	NP_001153583.1	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	11	1485	+	all_neural(206;0.219)		Q495E5	Silent	SNP	ENST00000484524.1	1	1	hg19	c.1485C>A	CCDS55182.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1		2	2	2	0		0	0	226		226	223	1	2.060000	-3.221886	1	0.170000	NM_000603			204	202		1129	1100	1		1	0		0	0	226	0		1	9.231272e-01	0	0	0	26	0	204	1129
NOS3	4846	broad.mit.edu	37	7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGGCCCAGGCTGCCTTCC	0.682																																						ENST00000297494.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2098-2100)caG>caT		nitric oxide synthase 3 (endothelial cell)							16.0	22.0	20.0					7																	150704352		2199	4287	6486	SO:0001583	missense	4846	0	0					g.chr7:150704352G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2100G>T	chr7.hg19:g.150704352G>T	ENSP00000297494:p.Gln700His	0					NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	p.Q700H	NM_000603.4	NP_000594.2	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	17	2457	+	all_neural(206;0.219)		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	1	1	hg19	c.2100G>T	CCDS5912.1	1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305078	0.40795	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59638	0.25;0.25	5.43	3.38	0.38709	5.43	3.38	0.38709	Flavodoxin/nitric oxide synthase (1);	0.326899	0.25511	N	0.030170	T	0.45034	0.1322	L	0.38531	1.155	0.80722	D	1	P;P	0.42785	0.553;0.79	B;B	0.42738	0.396;0.396	T	0.38650	-0.9651	10	0.46703	T	0.11	-17.7321	4.8809	0.13679	0.3627:0.0:0.6373:0.0	.	494;700	E7ESA7;P29474	.;NOS3_HUMAN	H	700;494	ENSP00000297494:Q700H;ENSP00000417143:Q494H	ENSP00000297494:Q700H	Q	+	3	2	2	NOS3	150335285	150335285	0.736000	0.28164	0.998000	0.56505	0.964000	0.63967	0.549000	0.23329	1.304000	0.44892	0.561000	0.74099	CAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_000603			47	46		190	185	0		1	0		0	0	27	0		1	7.205220e-01	0	0	0	12	0	47	190
NOS3	4846	broad.mit.edu	37	7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	NOS3_ENST00000477227.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGCTGCAGCCCACTCCCA	0.672											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297494.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(3112-3114)caG>caT		nitric oxide synthase 3 (endothelial cell)							74.0	76.0	75.0					7																	150710326		2203	4300	6503	SO:0001583	missense	4846	0	0					g.chr7:150710326G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3114G>T	chr7.hg19:g.150710326G>T	ENSP00000297494:p.Gln1038His	0		OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H	p.Q1038H	NM_000603.4	NP_000594.2	0	0	0	1.922693	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	25	3471	+	all_neural(206;0.219)		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	1	1	hg19	c.3114G>T	CCDS5912.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466791	0.43839	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.86562	-2.14;-2.14	4.08	2.05	0.26809	4.08	2.05	0.26809	Oxidoreductase FAD/NAD(P)-binding (1);	0.389995	0.22255	N	0.062486	T	0.75939	0.3918	N	0.21142	0.635	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.70296	-0.4911	10	0.54805	T	0.06	-6.9989	6.9468	0.24522	0.1009:0.0:0.7277:0.1715	.	832;1038	E7ESA7;P29474	.;NOS3_HUMAN	H	1038;832	ENSP00000297494:Q1038H;ENSP00000417143:Q832H	ENSP00000297494:Q1038H	Q	+	3	2	2	NOS3	150341259	150341259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.259000	0.32956	1.025000	0.39708	0.484000	0.47621	CAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_000603			94	94		437	433	1		1	1		0	0	89	0		1	9.934984e-01	0	8	0	30	0	94	437
FASTK	10922	broad.mit.edu	37	7	150775933	150775933	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	FASTK_ENST00000489884.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	227					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617																																						ENST00000297532.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				6						c.(679-681)ctG>ctA		Fas-activated serine/threonine kinase							26.0	27.0	26.0					7																	150775933		2202	4299	6501	SO:0001819	synonymous_variant	10922	0	0					g.chr7:150775933C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.681G>A	chr7.hg19:g.150775933C>T		0					RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000489884.1_Intron	p.L227L	NM_006712.4	NP_006703.1	0	0	0	1.922693	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	3	758	-			A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	1	1	hg19	c.681G>A	CCDS5918.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_006712			38	36		154	148	1		1	1		0	0	44	0		1	1	0	87	0	151	0	38	154
FASTK	10922	broad.mit.edu	37	7	150776915	150776915	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000297532.6	-	2	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000540185.1_Silent_p.Q25Q	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	59					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637																																						ENST00000297532.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999661	0.990000	1.000000																										0				6						c.(175-177)caG>caA		Fas-activated serine/threonine kinase							25.0	17.0	20.0					7																	150776915		2198	4298	6496	SO:0001819	synonymous_variant	10922	0	0					g.chr7:150776915C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.177G>A	chr7.hg19:g.150776915C>T		0					FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000540185.1_Silent_p.Q25Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron	p.Q59Q	NM_006712.4	NP_006703.1	0	0	0	1.922693	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	2	254	-			A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	1	1	hg19	c.177G>A	CCDS5918.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_006712			17	16		51	50	1		1	1		0	0	12	0		9.999818e-01	1	0	58	0	114	0	17	51
AGAP3	116988	broad.mit.edu	37	7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000397238.2	+	13	1694	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	529	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652																																						ENST00000397238.2	1.000000	0.790000	1	9.900000e-01	0.990000	0.985077	0.990000	1.000000																										0				28						c.(1693-1695)tCc>tTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							22.0	29.0	27.0					7																	150837093		1946	4135	6081	SO:0001583	missense	116988	0	0					g.chr7:150837093C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1694C>T	chr7.hg19:g.150837093C>T	ENSP00000380413:p.Ser565Phe	0					AGAP3_ENST00000463381.1_Intron	p.S565F	NM_031946.4	NP_114152.3	0	0	0	1.922693	Q96P47	AGAP3_HUMAN		13	1694	+			B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	0	1	hg19	c.1694C>T	CCDS43681.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765334|4.765334	0.90020|0.90020	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000397232;ENST00000397238;ENST00000335355	.|T	.|0.70164	.|-0.46	4.96|4.96	4.96|4.96	0.65561|0.65561	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.775970	.|0.11883	.|N	.|0.520288	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;D	.|0.71674	.|0.943;0.998	.|B;P	.|0.61132	.|0.445;0.884	T|T	0.73325|0.73325	-0.4018|-0.4018	5|10	.|0.66056	.|D	.|0.02	.|.	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;565	.|E7ETI2;Q96P47-4	.|.;.	S|F	58|64;565;529	.|ENSP00000380413:S565F	.|ENSP00000334157:S529F	P|S	+|+	1|2	0|0	0|0	AGAP3|AGAP3	150468026|150468026	150468026|150468026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.562000|4.562000	0.60816|0.60816	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCA|TCC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	1	0	1		2	2	2	0		0	0	8		8	7	1	2.060000	-18.831560	1	0.170000	NM_031946			10	9		55	52	1		1	1		0	0	8	0		9.967251e-01	9.990596e-01	0	11	0	67	0	10	55
AGAP3	116988	broad.mit.edu	37	7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000463381.1	+	13	1466	c.970C>T	c.(970-972)Cga>Tga	p.R324*	AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	619	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627																																						ENST00000463381.1	0.670000	0.420000	6.100000e-01	4.800000e-01	0.540000	0.551956	0.540000	0.540000																										0				28						c.(970-972)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							141.0	150.0	147.0					7																	150839253		2086	4212	6298	SO:0001587	stop_gained	116988	0	0					g.chr7:150839253C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.970C>T	chr7.hg19:g.150839253C>T	ENSP00000418016:p.Arg324*	0					AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	p.R324*	NM_001281300.1	NP_001268229.1	0	0	0	1.922693	Q96P47	AGAP3_HUMAN		13	1466	+			B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Nonsense_Mutation	SNP	ENST00000463381.1	0	1	hg19	c.970C>T		0	.	.	.	.	.	.	.	.	.	.	C	41	8.899776	0.98996	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.	.	.	4.77	3.87	0.44632	4.77	3.87	0.44632	.	0.186266	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1854	0.59677	0.161:0.839:0.0:0.0	.	.	.	.	X	324;154;655;619	.	ENSP00000334157:R619X	R	+	1	2	2	AGAP3	150470186	150470186	1.000000	0.71417	0.264000	0.24511	0.574000	0.36063	4.588000	0.60999	1.088000	0.41272	0.655000	0.94253	CGA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	1	0	1		2	2	2	0		0	0	260		260	257	1	2.060000	-6.474433	1	0.170000	NM_031946			73	72		1437	1414	0		1	1		0	0	260	0		1	9.924529e-01	0	2	0	143	0	73	1437
AGAP3	116988	broad.mit.edu	37	7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G	rs201379216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000463381.1	+	15	2007	c.1511T>G	c.(1510-1512)gTt>gGt	p.V504G	AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	799	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567																																						ENST00000463381.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1510-1512)gTt>gGt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							110.0	118.0	115.0					7																	150840658		2169	4255	6424	SO:0001583	missense	116988	0	0					g.chr7:150840658T>G	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1511T>G	chr7.hg19:g.150840658T>G	ENSP00000418016:p.Val504Gly	0					AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	p.V504G	NM_001281300.1	NP_001268229.1	0	0	0	1.922693	Q96P47	AGAP3_HUMAN		15	2007	+			B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	1	1	hg19	c.1511T>G		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378686|3.378686	0.61735|0.61735	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66638	.|-0.22;-0.22	5.28|5.28	5.28|5.28	0.74379|0.74379	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.153604	.|0.44902	.|D	.|0.000411	T|T	0.78811|0.78811	0.4342|0.4342	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.974;0.928;0.999	.|D;P;P;D	.|0.97110	.|1.0;0.901;0.74;0.997	T|T	0.80997|0.80997	-0.1132|-0.1132	5|10	.|0.87932	.|D	.|0	.|.	14.5549|14.5549	0.68094|0.68094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|799;334;835;504	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	V|G	328|504;334;835;799	.|ENSP00000418016:V504G;ENSP00000380413:V835G	.|ENSP00000334157:V799G	L|V	+|+	1|2	2|0	2|0	AGAP3|AGAP3	150471591|150471591	150471591|150471591	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.406000|0.406000	0.30931|0.30931	7.863000|7.863000	0.87023|0.87023	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTG|GTT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	1	0	1		2	2	2	0		0	0	98		98	94	1	2.060000	-20.000000	1	0.170000	NM_031946			80	79		373	366	1		1	1		0	0	98	0		1	1	0	31	0	138	0	80	373
GBX1	2636	broad.mit.edu	37	7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	181					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582																																						ENST00000297537.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(541-543)gaG>gaT		gastrulation brain homeobox 1							144.0	153.0	150.0					7																	150846225		2031	4190	6221	SO:0001583	missense	2636	0	0					g.chr7:150846225C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.543G>T	chr7.hg19:g.150846225C>A	ENSP00000297537:p.Glu181Asp	0					GBX1_ENST00000475831.1_5'Flank	p.E181D	NM_001098834.1	NP_001092304.1	0	0	0	1.922693	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	2	542	-				Missense_Mutation	SNP	ENST00000297537.4	1	1	hg19	c.543G>T	CCDS43682.1	1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829649	0.32329	.	.	ENSG00000164900	ENST00000297537	D	0.91996	-2.95	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.56097	U	0.000030	T	0.81408	0.4816	N	0.08118	0	0.80722	D	1	B	0.24920	0.114	B	0.24974	0.057	T	0.76542	-0.2921	10	0.18276	T	0.48	-28.0536	10.0885	0.42432	0.1519:0.7012:0.147:0.0	.	181	Q14549	GBX1_HUMAN	D	181	ENSP00000297537:E181D	ENSP00000297537:E181D	E	-	3	2	2	GBX1	150477158	150477158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.398000	0.81561	0.591000	0.81541	GAG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1	1	0	1		2	2	2	0		0	0	267		267	265	1	2.060000	-3.404810	1	0.170000				311	304		1278	1247	0		1			0	0	267	0		1	0	0	0	0	0	0	311	1278
GBX1	2636	broad.mit.edu	37	7	150864194	150864194	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	148	Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701																																						ENST00000297537.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(442-444)Ctg>Ttg		gastrulation brain homeobox 1							18.0	23.0	21.0					7																	150864194		1863	4094	5957	SO:0001819	synonymous_variant	2636	0	0					g.chr7:150864194G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.442C>T	chr7.hg19:g.150864194G>A		0					GBX1_ENST00000475831.1_5'UTR	p.L148L	NM_001098834.1	NP_001092304.1	0	0	0	1.922693	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	1	441	-				Silent	SNP	ENST00000297537.4	1	1	hg19	c.442C>T	CCDS43682.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				48	48		209	209	0		1			0	0	34	0		1	0	0	0	0	0	0	48	209
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000420175.2	-	5	1417	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ASB10_ENST00000377867.3_Missense_Mutation_p.V450M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672																																						ENST00000420175.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										2	Substitution - Missense(2)	p.V427L(1)|p.V465L(1)	lung(2)	12						c.(1393-1395)Gtg>Atg		ankyrin repeat and SOCS box containing 10							24.0	26.0	25.0					7																	150873210		2199	4295	6494	SO:0001583	missense	136371	1	121116	27				g.chr7:150873210C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1393G>A	chr7.hg19:g.150873210C>T	ENSP00000391137:p.Val465Met	0					ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M	p.V465M			0	0	0	1.922693	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	5	1417	-			A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	1	1	hg19	c.1393G>A	CCDS47750.2	1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158322	0.57368	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69306	-0.39;-0.32;-0.37;-0.39;-0.35	4.73	1.29	0.21616	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.67154	0.2863	L	0.61218	1.895	0.22317	N	0.999205	D;D;D	0.65815	0.995;0.968;0.987	P;B;B	0.52627	0.704;0.401;0.416	T	0.59359	-0.7469	10	0.72032	D	0.01	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	M	427;450;510;472;465	ENSP00000275838:V427M;ENSP00000367098:V450M;ENSP00000401369:V510M;ENSP00000398247:V472M;ENSP00000391137:V465M	ENSP00000275838:V427M	V	-	1	0	0	ASB10	150504143	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_080871			42	41		190	189	1		1			0	0	48	0		1	0	0	0	0	0	0	42	190
ASB10	136371	broad.mit.edu	37	7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000420175.2	-	3	653	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637																																						ENST00000420175.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				12						c.(628-630)cGg>cAg		ankyrin repeat and SOCS box containing 10							27.0	25.0	25.0					7																	150878501		2201	4291	6492	SO:0001583	missense	136371	3	121278	34				g.chr7:150878501C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.629G>A	chr7.hg19:g.150878501C>T	ENSP00000391137:p.Arg210Gln	0					ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q	p.R210Q			0	0	0	1.922693	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	3	653	-			A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	1	1	hg19	c.629G>A	CCDS47750.2	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338483	0.41398	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.14	3.33	0.38152	5.14	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.350110	0.30602	N	0.009273	T	0.46073	0.1374	N	0.13327	0.33	0.31035	N	0.716972	P;D;D	0.89917	0.865;1.0;1.0	B;D;D	0.72625	0.391;0.974;0.978	T	0.46735	-0.9170	10	0.25751	T	0.34	-12.42	10.0366	0.42133	0.0:0.7716:0.0:0.2284	.	195;210;255	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	Q	210;195;255;255;210	ENSP00000275838:R210Q;ENSP00000367098:R195Q;ENSP00000401369:R255Q;ENSP00000398247:R255Q;ENSP00000391137:R210Q	ENSP00000275838:R210Q	R	-	2	0	0	ASB10	150509434	150509434	0.011000	0.17503	0.996000	0.52242	0.680000	0.39746	0.308000	0.19314	0.673000	0.31224	-0.140000	0.14226	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.439049	1	0.170000	NM_080871			42	41		178	176	1		1			0	0	50	0		1	0	0	0	0	0	0	42	178
ASB10	136371	broad.mit.edu	37	7	150884173	150884173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	ENST00000420175.2	-	1	69	c.45G>A	c.(43-45)gaG>gaA	p.E15E	ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000422024.1_Silent_p.E60E			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGAGGGGCTCTCCCTGCC	0.617																																						ENST00000420175.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.997569	0.990000	1.000000																										0				12						c.(43-45)gaG>gaA		ankyrin repeat and SOCS box containing 10							31.0	25.0	27.0					7																	150884173		2202	4298	6500	SO:0001819	synonymous_variant	136371	0	0					g.chr7:150884173C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.45G>A	chr7.hg19:g.150884173C>T		0					ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000422024.1_Silent_p.E60E|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000377867.3_Intron	p.E15E			0	0	0	1.922693	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	1	69	-			A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	0	1	hg19	c.45G>A	CCDS47750.2	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_080871			14	13		59	58	0		1			0	0	11	0		9.998238e-01	0	0	0	0	0	0	14	59
CHPF2	54480	broad.mit.edu	37	7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T	rs200404526		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000035307.2	+	1	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17792	0.0		0.001	False		,,,				2504	0.0					ENST00000035307.2	1.000000	0.570000	9.700000e-01	6.900000e-01	0.820000	0.827533	0.820000	1.000000																										0				17						c.(145-147)Cga>Tga		chondroitin polymerizing factor 2							74.0	77.0	76.0					7																	150931242		2203	4300	6503	SO:0001587	stop_gained	54480	2	121412	35				g.chr7:150931242C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.145C>T	chr7.hg19:g.150931242C>T	ENSP00000035307:p.Arg49*	0					CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	p.R49*	NM_019015.1	NP_061888.1	0	0	0	1.922693	Q9P2E5	CHPF2_HUMAN		1	1658	+			B2DBD8|Q6P2I4|Q6UXD2	Nonsense_Mutation	SNP	ENST00000035307.2	0	1	hg19	c.145C>T	CCDS34779.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.173336	0.94807	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.25	4.36	0.52297	5.25	4.36	0.52297	.	0.719501	0.13914	N	0.354060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.3935	12.9403	0.58340	0.0:0.837:0.163:0.0	.	.	.	.	X	41;49;49	.	ENSP00000035307:R49X	R	+	1	2	2	CHPF2	150562175	150562175	0.758000	0.28405	0.936000	0.37596	0.359000	0.29487	3.251000	0.51453	1.200000	0.43188	0.462000	0.41574	CGA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-3.318795	1	0.170000	NM_019015			31	31		393	387	0		1	1		0	0	77	0		1	9.999350e-01	0	6	0	182	0	31	393
CHPF2	54480	broad.mit.edu	37	7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000035307.2	+	4	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	670					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711																																						ENST00000035307.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999555	0.990000	1.000000																										0				17						c.(2008-2010)gCg>gTg		chondroitin polymerizing factor 2							14.0	16.0	15.0					7																	150935457		2194	4293	6487	SO:0001583	missense	54480	8	121064	31				g.chr7:150935457C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2009C>T	chr7.hg19:g.150935457C>T	ENSP00000035307:p.Ala670Val	0					RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V|MIR671_ENST00000390183.1_RNA	p.A670V	NM_019015.1	NP_061888.1	0	0	0	1.922693	Q9P2E5	CHPF2_HUMAN		4	3522	+			B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	1	1	hg19	c.2009C>T	CCDS34779.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702049	0.48307	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.16196	2.36;2.36	4.81	3.93	0.45458	4.81	3.93	0.45458	.	0.235349	0.42964	D	0.000628	T	0.10208	0.0250	N	0.14661	0.345	0.36327	D	0.858613	P;B	0.48834	0.916;0.0	B;B	0.38755	0.281;0.001	T	0.19418	-1.0306	10	0.72032	D	0.01	-7.7357	12.433	0.55584	0.0:0.9194:0.0:0.0806	.	670;662	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	662;670	ENSP00000418914:A662V;ENSP00000035307:A670V	ENSP00000035307:A670V	A	+	2	0	0	CHPF2	150566390	150566390	1.000000	0.71417	0.299000	0.25016	0.957000	0.61999	4.766000	0.62279	1.246000	0.43901	0.655000	0.94253	GCG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_019015			21	17		91	89	1		1	1		0	0	24	0		9.999980e-01	9.999999e-01	0	15	0	122	0	21	91
SMARCD3	6604	broad.mit.edu	37	7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000262188.8	-	13	1818	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R457C|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	470					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572																																						ENST00000262188.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1408-1410)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							111.0	109.0	109.0					7																	150936233		2203	4300	6503	SO:0001583	missense	6604	12	121412	43				g.chr7:150936233G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1408C>T	chr7.hg19:g.150936233G>A	ENSP00000262188:p.Arg470Cys	0					RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R457C|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank	p.R470C	NM_001003801.1	NP_001003801.1	0	0	0	1.922693	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	13	1818	-			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	1	1	hg19	c.1408C>T	CCDS34780.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726761	0.48833	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.50548	0.74;0.77;0.77	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.556;0.987	T	0.75230	-0.3391	10	0.87932	D	0	-9.877	15.7995	0.78443	0.0:0.0:1.0:0.0	.	457;470	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	470;457;457;422	ENSP00000262188:R470C;ENSP00000376558:R457C;ENSP00000349254:R457C	ENSP00000262188:R470C	R	-	1	0	0	SMARCD3	150567166	150567166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.401000	0.81631	0.655000	0.94253	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	1	0	1		2	2	2	0		0	0	114		114	112	1	2.060000	-20.000000	1	0.170000	NM_001003801			113	110		512	505	1		1	1		0	0	114	0		1	1	0	10	0	117	0	113	512
WDR86	349136	broad.mit.edu	37	7	151079024	151079024	+	Silent	SNP	C	C	T	rs370137886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	ENST00000334493.6	-	5	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000469830.2_Missense_Mutation_p.A324T|WDR86_ENST00000463000.1_Intron	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	302										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACTGCGCGTCGAAGG	0.706																																						ENST00000334493.6	1.000000	0.960000	1	9.900000e-01	0.990000	0.996928	0.990000	1.000000																										0				10						c.(904-906)gcG>gcA		WD repeat domain 86		C		0,4404		0,0,2202	26.0	25.0	25.0		906	0.1	1.0	7		25	1,8595		0,1,4297	no	coding-synonymous	WDR86	NM_198285.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		302/377	151079024	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	349136	3	121126	30				g.chr7:151079024C>T	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.906G>A	chr7.hg19:g.151079024C>T		0					WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000469830.2_Missense_Mutation_p.A324T|WDR86_ENST00000463000.1_Intron	p.A302A	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	0	0	0	1.922693	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	5	1336	-			B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	0	1	hg19	c.906G>A	CCDS5925.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.49|19.49	3.837177|3.837177	0.71373|0.71373	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187260|ENSG00000187260	ENST00000469830|ENST00000477459	T|T	0.61392|0.58506	0.11|0.33	4.47|4.47	0.139|0.139	0.14798|0.14798	4.47|4.47	0.139|0.139	0.14798|0.14798	.|.	.|0.469068	.|0.13213	.|N	.|0.405041	T|T	0.30135|0.30135	0.0755|0.0755	.|.	.|.	.|.	0.20307|0.20307	N|N	0.999919|0.999919	B|B	0.30211|0.22909	0.273|0.077	B|B	0.15052|0.09377	0.012|0.004	T|T	0.09357|0.09357	-1.0678|-1.0678	8|9	0.08837|0.20046	T|T	0.75|0.44	-12.6375|-12.6375	1.6353|1.6353	0.02740|0.02740	0.1945:0.3125:0.3458:0.1472|0.1945:0.3125:0.3458:0.1472	.|.	324|129	B4DJF1|C9JAJ5	.|.	T|H	324|129	ENSP00000419162:A324T|ENSP00000417512:R129H	ENSP00000419162:A324T|ENSP00000417512:R129H	A|R	-|-	1|2	0|0	0|0	WDR86|WDR86	150709957|150709957	150709957|150709957	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	0.142000|0.142000	0.16096|0.16096	0.325000|0.325000	0.23359|0.23359	0.313000|0.313000	0.20887|0.20887	GCA|CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-3.389893	1	0.170000	NM_198285			17	17		91	91	0		1			0	0	12	0		9.999791e-01	0	0	0	0	0	0	17	91
WDR86	349136	broad.mit.edu	37	7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000334493.6	-	2	651	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607																																						ENST00000334493.6	1.000000	0.540000	1	7.500000e-01	0.990000	0.905039	0.990000	1.000000																										0				10						c.(220-222)aGc>aTc		WD repeat domain 86							40.0	43.0	42.0					7																	151097270		2178	4268	6446	SO:0001583	missense	349136	0	0					g.chr7:151097270C>A	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.221G>T	chr7.hg19:g.151097270C>A	ENSP00000335522:p.Ser74Ile	0					WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	p.S74I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	0	0	0	1.922693	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	2	651	-			B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	0	1	hg19	c.221G>T	CCDS5925.2	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262929	0.80358	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.74526	-0.85;-0.85	5.0	5.0	0.66597	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.90940	0.7152	H	0.96943	3.91	0.39221	D	0.963495	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.981	D	0.94693	0.7876	9	0.87932	D	0	-20.8032	16.8851	0.86074	0.0:1.0:0.0:0.0	.	74;74;32	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	74	ENSP00000335522:S74I;ENSP00000419162:S74I	ENSP00000335522:S74I	S	-	2	0	0	WDR86	150728203	150728203	0.998000	0.40836	0.993000	0.49108	0.941000	0.58515	4.153000	0.58118	2.311000	0.77944	0.585000	0.79938	AGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-17.391850	1	0.170000	NM_198285			11	10		111	111	0		1	0		0	0	20	0		9.985218e-01	2.795699e-02	0	0	0	3	0	11	111
PRKAG2	51422	broad.mit.edu	37	7	151372653	151372653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151372653G>A	ENST00000287878.4	-	4	1041	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.S135S|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000433631.2_Silent_p.S55S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	179					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)			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)	CGTGCTTATAGGATTCCAGGG	0.587																																						ENST00000287878.4	0.360000	0.100000	2.900000e-01	1.500000e-01	0.210000	0.223910	0.210000	0.210000																										0				26						c.(535-537)tcC>tcT		protein kinase, AMP-activated, gamma 2 non-catalytic subunit	Acetylsalicylic acid(DB00945)						146.0	123.0	131.0					7																	151372653		2203	4300	6503	SO:0001819	synonymous_variant	51422	0	0					g.chr7:151372653G>A	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.537C>T	chr7.hg19:g.151372653G>A		0					PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.S135S	p.S179S	NM_016203.3	NP_057287.2	0	0	0	1.922693	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	4	1041	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	0	1	hg19	c.537C>T	CCDS5928.1	0																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	0	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-2.490764	0	0.170000	NM_016203			10	10		538	527	0		1	0		0	0	105	0		9.965958e-01	1.240549e-01	0	0	0	30	0	10	538
INTS1	26173	broad.mit.edu	37	7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T	rs200114821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000404767.3	-	23	3146	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1021					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657																																						ENST00000404767.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(3061-3063)Gat>Aat		integrator complex subunit 1							47.0	60.0	56.0					7																	1525021		2105	4220	6325	SO:0001583	missense	26173	0	0					g.chr7:1525021C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3061G>A	chr7.hg19:g.1525021C>T	ENSP00000385722:p.Asp1021Asn	0					INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	p.D1021N	NM_001080453.2	NP_001073922.2	1	2	3	2.000345	Q8N201	INT1_HUMAN		23	3146	-		Ovarian(82;0.0253)	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	1	1	hg19	c.3061G>A	CCDS47526.1	1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535348	0.27475	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44083	0.97;0.93	5.2	4.32	0.51571	5.2	4.32	0.51571	.	0.101878	0.64402	D	0.000003	T	0.30510	0.0767	N	0.22421	0.69	0.35414	D	0.792645	B;B	0.26258	0.145;0.036	B;B	0.23716	0.048;0.03	T	0.36504	-0.9745	10	0.52906	T	0.07	.	13.3633	0.60669	0.0:0.924:0.0:0.076	.	1189;1021	A4D213;Q8N201	.;INT1_HUMAN	N	1021;1183	ENSP00000385722:D1021N;ENSP00000374121:D1183N	ENSP00000374121:D1183N	D	-	1	0	0	INTS1	1491547	1491547	1.000000	0.71417	0.002000	0.10522	0.036000	0.12997	5.392000	0.66272	1.181000	0.42912	0.561000	0.74099	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	0		2	2	2	0		0	0	77		77	75	1	2.060000	-3.324412	1	0.170000				58	58		318	309	1		1	1		0	0	77	0		1	9.999802e-01	0	27	0	62	0	58	318
INTS1	26173	broad.mit.edu	37	7	1525106	1525106	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000404767.3	-	23	3062		c.e23-1		INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672																																						ENST00000404767.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				62						c.e23-1		integrator complex subunit 1							23.0	30.0	28.0					7																	1525106		2052	4182	6234	SO:0001630	splice_region_variant	26173	0	0					g.chr7:1525106C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-1G>T	chr7.hg19:g.1525106C>A		0					INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H		NM_001080453.2	NP_001073922.2	1	2	3	2.000345	Q8N201	INT1_HUMAN		23	3062	-		Ovarian(82;0.0253)	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Splice_Site	SNP	ENST00000404767.3	1	0	hg19		CCDS47526.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.13|13.13	2.143877|2.143877	0.37825|0.37825	.|.	.|.	ENSG00000164880|ENSG00000164880	ENST00000404767|ENST00000389470	.|T	.|0.46451	.|0.87	5.01|5.01	5.01|5.01	0.66863|0.66863	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57446	.|0.2054	.|.	.|.	.|.	0.37569|0.37569	D|D	0.919357|0.919357	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|5	.|.	.|.	.|.	.|.	18.3337|18.3337	0.90280|0.90280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|1154	.|ENSP00000374121:Q1154H	.|.	.|Q	-|-	.|3	.|2	.|2	INTS1|INTS1	1491632|1491632	1491632|1491632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.059000|0.059000	0.15707|0.15707	7.268000|7.268000	0.78473|0.78473	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	.|CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	0		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000		Intron		27	27		141	139	0		1	1		0	0	29	0		1	7.405381e-02	0	2	0	1	0	27	141
INTS1	26173	broad.mit.edu	37	7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000404767.3	-	7	969	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_ENST00000389470.4_Missense_Mutation_p.S423I|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	295					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692																																						ENST00000404767.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(883-885)aGc>aTc		integrator complex subunit 1							67.0	77.0	74.0					7																	1538957		2071	4207	6278	SO:0001583	missense	26173	0	0					g.chr7:1538957C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.884G>T	chr7.hg19:g.1538957C>A	ENSP00000385722:p.Ser295Ile	0					INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.S423I	p.S295I	NM_001080453.2	NP_001073922.2	1	2	3	2.000345	Q8N201	INT1_HUMAN		7	969	-		Ovarian(82;0.0253)	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	1	1	hg19	c.884G>T	CCDS47526.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769171	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.81	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.203137	0.50627	D	0.000108	T	0.50222	0.1603	L	0.46157	1.445	0.39377	D	0.966195	P;P	0.45011	0.848;0.82	P;B	0.45829	0.494;0.312	T	0.58025	-0.7709	10	0.62326	D	0.03	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	423;295	A4D212;Q8N201	.;INT1_HUMAN	I	295;423	ENSP00000385722:S295I;ENSP00000374121:S423I	ENSP00000374121:S423I	S	-	2	0	0	INTS1	1505483	1505483	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.937000	0.48979	2.229000	0.72834	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	1		2	2	2	0		0	0	130		130	127	1	2.060000	-20.000000	1	0.170000				122	119		644	629	0		1	1		0	0	130	0		1	9.966845e-01	0	2	0	45	0	122	644
INTS1	26173	broad.mit.edu	37	7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000404767.3	-	3	255	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_ENST00000389470.4_Missense_Mutation_p.R185H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	57					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647																																						ENST00000404767.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(169-171)cGc>cAc		integrator complex subunit 1							57.0	68.0	64.0					7																	1542716		2013	4166	6179	SO:0001583	missense	26173	0	0					g.chr7:1542716C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.170G>A	chr7.hg19:g.1542716C>T	ENSP00000385722:p.Arg57His	0					INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.R185H	p.R57H	NM_001080453.2	NP_001073922.2	1	2	3	2.000345	Q8N201	INT1_HUMAN		3	255	-		Ovarian(82;0.0253)	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	1	1	hg19	c.170G>A	CCDS47526.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.379939	0.95945	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.66;0.68	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.949;0.98	T	0.69989	-0.4995	10	0.87932	D	0	.	16.3381	0.83073	0.0:1.0:0.0:0.0	.	185;57	A4D212;Q8N201	.;INT1_HUMAN	H	57;185	ENSP00000385722:R57H;ENSP00000374121:R185H	ENSP00000374121:R185H	R	-	2	0	0	INTS1	1509242	1509242	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.190000	0.77755	2.374000	0.81015	0.563000	0.77884	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000				102	101		451	435	1		1	1		0	0	69	1		1	9.931937e-01	0	12	0	24	0	102	451
GALNTL5	168391	broad.mit.edu	37	7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	92					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			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)		TACAAACCCAGAACTTCATAA	0.338																																						ENST00000392800.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999569	0.990000	1.000000																										0				32						c.(274-276)Gaa>Taa		polypeptide N-acetylgalactosaminyltransferase-like 5							64.0	67.0	66.0					7																	151668056		2203	4297	6500	SO:0001587	stop_gained	168391	0	0					g.chr7:151668056G>T	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.274G>T	chr7.hg19:g.151668056G>T	ENSP00000376548:p.Glu92*	0					GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	p.E92*	NM_145292.3	NP_660335.2	0	0	0	1.922693	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	3	528	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Nonsense_Mutation	SNP	ENST00000392800.2	0	1	hg19	c.274G>T	CCDS5929.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.144923	0.94603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	.	.	.	4.94	3.14	0.36123	4.94	3.14	0.36123	.	1.405840	0.04436	N	0.370099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.6325	0.28247	0.1907:0.0:0.8093:0.0	.	.	.	.	X	92	.	ENSP00000376548:E92X	E	+	1	0	0	GALNTL5	151298989	151298989	0.757000	0.28394	0.028000	0.17463	0.023000	0.10783	1.917000	0.39996	0.788000	0.33755	-0.140000	0.14226	GAA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_145292			34	34		206	202	1		1			0	0	38	0		1	0	0	0	0	0	0	34	206
DPP6	1804	broad.mit.edu	37	7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000377770.3	+	15	1669	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	DPP6_ENST00000404039.1_Missense_Mutation_p.R446W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	510					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGCCTCGGAGACGACA	0.557																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000377770.3	1.000000	0.800000	1	9.900000e-01	0.990000	0.986903	0.990000	1.000000																										0				71						c.(1528-1530)Cgg>Tgg		dipeptidyl-peptidase 6							77.0	84.0	82.0					7																	154596655		2058	4198	6256	SO:0001583	missense	1804	0	0					g.chr7:154596655C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1528C>T	chr7.hg19:g.154596655C>T	ENSP00000367001:p.Arg510Trp	0					DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000404039.1_Missense_Mutation_p.R446W	p.R510W			0	0	0	1.922693	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)	15	1669	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)		Missense_Mutation	SNP	ENST00000377770.3	0	1	hg19	c.1528C>T		1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101985	0.56183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	1.69	0.24217	5.04	1.69	0.24217	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243875	0.48286	D	0.000193	T	0.50188	0.1601	M	0.73962	2.25	0.37883	D	0.930458	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;P;P;D	0.63192	0.832;0.901;0.861;0.912	T	0.58148	-0.7687	10	0.66056	D	0.02	-12.2056	13.0161	0.58757	0.331:0.669:0.0:0.0	.	403;448;510;446	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	446;510;448;403	ENSP00000385578:R446W;ENSP00000367001:R510W;ENSP00000328226:R448W;ENSP00000397303:R403W	ENSP00000328226:R448W	R	+	1	2	2	DPP6	154227588	154227588	0.899000	0.30636	0.001000	0.08648	0.759000	0.43091	1.793000	0.38764	0.126000	0.18424	0.650000	0.86243	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-16.618040	1	0.170000	NM_130797			8	8		33	33	1		1	0		0	0	8	0		9.918790e-01	2.852734e-01	0	0	0	5	0	8	33
PAXIP1	22976	broad.mit.edu	37	7	154767875	154767875	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	ENST00000404141.1	-	6	759	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	202					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ttcctcattttctacttcctc	0.438																																						ENST00000404141.1	1.000000	0.560000	1	8.200000e-01	0.990000	0.936541	0.990000	1.000000																										0				33						c.(604-606)gAa>gCa		PAX interacting (with transcription-activation domain) protein 1							127.0	115.0	119.0					7																	154767875		1986	4189	6175	SO:0001583	missense	22976	0	0					g.chr7:154767875T>G	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.605A>C	chr7.hg19:g.154767875T>G	ENSP00000384048:p.Glu202Ala	0					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A	p.E202A			0	0	0	1.922693	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	6	759	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	0	1	hg19	c.605A>C	CCDS47753.1	1	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107271	0.20714	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T	0.33865	1.39;1.39	5.22	2.88	0.33553	5.22	2.88	0.33553	.	0.534254	0.16281	U	0.221350	T	0.26412	0.0645	L	0.50333	1.59	0.22342	N	0.999183	B;B;B;B	0.24823	0.022;0.112;0.063;0.022	B;B;B;B	0.23852	0.01;0.049;0.022;0.01	T	0.33879	-0.9851	10	0.05436	T	0.98	-5.5449	8.8637	0.35274	0.0:0.1534:0.0:0.8466	.	155;111;168;202	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	A	202;202;150;155;160	ENSP00000384048:E202A;ENSP00000380376:E202A	ENSP00000319149:E155A	E	-	2	0	0	PAXIP1	154398808	154398808	1.000000	0.71417	0.004000	0.12327	0.958000	0.62258	2.848000	0.48278	0.327000	0.23409	0.254000	0.18369	GAA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-13.682770	1	0.170000	NM_007349			7	6		54	51	0		1	1		0	0	8	0		9.779775e-01	8.792098e-01	0	8	0	23	0	7	54
HTR5A	3361	broad.mit.edu	37	7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	223					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)			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)	GTACTGGAAGATCTACAAGGC	0.567																																						ENST00000287907.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999194	0.990000	1.000000																										0				48						c.(667-669)Atc>Ttc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)						80.0	75.0	77.0					7																	154863276		2203	4300	6503	SO:0001583	missense	3361	0	0					g.chr7:154863276A>T		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.667A>T	chr7.hg19:g.154863276A>T	ENSP00000287907:p.Ile223Phe	0					HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	p.I223F	NM_024012.3	NP_076917.1	0	0	0	1.922693	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	1	1243	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	1	1	hg19	c.667A>T	CCDS5936.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270334	0.80469	.	.	ENSG00000157219	ENST00000287907	T	0.57436	0.4	4.76	3.61	0.41365	4.76	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.048431	0.85682	D	0.000000	T	0.79375	0.4435	H	0.97564	4.03	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83349	-0.0004	10	0.87932	D	0	.	10.1703	0.42906	0.9222:0.0:0.0778:0.0	.	223	P47898	5HT5A_HUMAN	F	223	ENSP00000287907:I223F	ENSP00000287907:I223F	I	+	1	0	0	HTR5A	154494209	154494209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.800000	0.69108	0.874000	0.35823	0.528000	0.53228	ATC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-16.132660	1	0.170000	NM_024012			33	32		210	201	1		1			0	0	51	0		1	0	0	0	0	0	0	33	210
INSIG1	3638	broad.mit.edu	37	7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000340368.4	+	3	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	166					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433																																						ENST00000340368.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(496-498)cGc>cTc		insulin induced gene 1							200.0	175.0	184.0					7																	155093360		2203	4300	6503	SO:0001583	missense	3638	0	0					g.chr7:155093360G>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.497G>T	chr7.hg19:g.155093360G>T	ENSP00000344741:p.Arg166Leu	0					INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	p.R166L	NM_005542.4	NP_005533.2	0	0	0	1.922693	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	3	708	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	1	1	hg19	c.497G>T	CCDS5938.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.646578	0.96704	.	.	ENSG00000186480	ENST00000340368	T	0.57595	0.39	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.73975	-0.3813	10	0.51188	T	0.08	.	18.8026	0.92023	0.0:0.0:1.0:0.0	.	166	O15503	INSI1_HUMAN	L	166	ENSP00000344741:R166L	ENSP00000344741:R166L	R	+	2	0	0	INSIG1	154724293	154724293	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.451000	0.97610	2.602000	0.87976	0.655000	0.94253	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_198336			138	137		565	558	1		1	1		0	0	127	0		1	1	0	43	0	181	0	138	565
CNPY1	285888	broad.mit.edu	37	7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393																																						ENST00000321736.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(79-81)aaA>aaC		canopy FGF signaling regulator 1							75.0	73.0	74.0					7																	155301652		1802	4071	5873	SO:0001583	missense	285888	0	0					g.chr7:155301652T>G		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.81A>C	chr7.hg19:g.155301652T>G	ENSP00000317439:p.Lys27Asn	0					CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N|AC008060.5_ENST00000415333.1_RNA	p.K27N	NM_001103176.1	NP_001096646.1	0	0	0	1.922693	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	2	243	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	1	1	hg19	c.81A>C	CCDS43684.1	1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501138	0.26861	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35421	1.31;1.31	4.85	-0.421	0.12332	4.85	-0.421	0.12332	.	0.372425	0.28332	N	0.015735	T	0.20455	0.0492	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.34722	0.188	T	0.12708	-1.0537	9	0.29301	T	0.29	-2.7614	0.481	0.00547	0.2498:0.1441:0.2583:0.3478	.	27	Q3B7I2	CNPY1_HUMAN	N	27	ENSP00000384514:K27N;ENSP00000317439:K27N	ENSP00000317439:K27N	K	-	3	2	2	CNPY1	154994413	154994413	0.271000	0.24162	0.204000	0.23530	0.583000	0.36354	0.016000	0.13377	-0.336000	0.08438	0.455000	0.32223	AAA	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	XM_001129537			82	81		326	321	1		1			0	0	53	0		1	0	0	0	0	0	0	82	326
RBM33	155435	broad.mit.edu	37	7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	373	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		ATGATGATGACCCCGCCACCC	0.602																																						ENST00000401878.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999547	0.990000	1.000000																										0				27						c.(1117-1119)aCc>aTc		RNA binding motif protein 33							64.0	78.0	73.0					7																	155504066		2110	4218	6328	SO:0001583	missense	155435	1	121042	32				g.chr7:155504066C>T	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.1118C>T	chr7.hg19:g.155504066C>T	ENSP00000384160:p.Thr373Ile	0					RBM33_ENST00000486747.1_3'UTR	p.T373I	NM_053043.2	NP_444271.2	0	0	0	1.922693	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	8	1316	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	1	1	hg19	c.1118C>T	CCDS5941.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010313|3.010313	0.54361|0.54361	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.52754	.|0.65	4.93|4.93	4.93|4.93	0.64822|0.64822	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.64776	.|0.929;0.929	T|T	0.56275|0.56275	-0.8006|-0.8006	5|9	.|0.36615	.|T	.|0.2	.|.	13.1715|13.1715	0.59602|0.59602	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|90;373	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	S|I	145|373;274	.|ENSP00000384160:T373I	.|ENSP00000384160:T373I	P|T	+|+	1|2	0|0	0|0	RBM33|RBM33	155196827|155196827	155196827|155196827	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.768000|0.768000	0.43524|0.43524	3.648000|3.648000	0.54410|0.54410	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	CCC|ACC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_001008408			34	33		207	200	1		1	1		0	0	60	0		1	9.520948e-01	0	7	0	26	0	34	207
RBM33	155435	broad.mit.edu	37	7	155556568	155556568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1014							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		CCCAGCCTCCGGAAGTGGGAC	0.657																																						ENST00000401878.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997165	0.990000	1.000000																										0				27						c.(3040-3042)ccG>ccA		RNA binding motif protein 33							14.0	17.0	16.0					7																	155556568		1985	4168	6153	SO:0001819	synonymous_variant	155435	2	120890	29				g.chr7:155556568G>A	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.3042G>A	chr7.hg19:g.155556568G>A		0					RBM33_ENST00000341148.3_5'UTR	p.P1014P	NM_053043.2	NP_444271.2	0	0	0	1.922693	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	15	3240	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	0	1	hg19	c.3042G>A	CCDS5941.2	1	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312011	0.05422	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.91	-3.05	0.05396	5.91	-3.05	0.05396	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62416	-0.6859	4	.	.	.	.	15.7905	0.78357	0.4084:0.0:0.5916:0.0	.	.	.	.	Q	787	.	.	R	+	2	0	0	RBM33	155249329	155249329	0.571000	0.26659	0.106000	0.21319	0.233000	0.25261	-0.089000	0.11180	-1.219000	0.02597	-0.982000	0.02568	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_001008408			15	15		71	70	1		1	1		0	0	9	0		9.999157e-01	9.975694e-01	0	12	0	40	0	15	71
RBM33	155435	broad.mit.edu	37	7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1080							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		GGGCCGGGGGCGCCTGATGCC	0.612																																						ENST00000401878.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.988301	0.990000	1.000000																										0				27						c.(3238-3240)Cgc>Tgc		RNA binding motif protein 33		C	CYS/ARG	0,4406		0,0,2203	35.0	36.0	36.0		3238	5.5	1.0	7	dbSNP_134	36	1,8597	2.2+/-6.3	0,1,4298	yes	missense	RBM33	NM_053043.2	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1080/1171	155559212	1,13003	2203	4299	6502	SO:0001583	missense	155435	7	121398	38				g.chr7:155559212C>T	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.3238C>T	chr7.hg19:g.155559212C>T	ENSP00000384160:p.Arg1080Cys	0					RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	p.R1080C	NM_053043.2	NP_444271.2	0	0	0	1.922693	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	16	3436	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	1	1	hg19	c.3238C>T	CCDS5941.2	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701164	0.88924	0.0	1.16E-4	ENSG00000184863	ENST00000401878;ENST00000438356;ENST00000341148	T	0.59638	0.25	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.40385	U	0.001104	T	0.75466	0.3853	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.87578	0.774;0.998	T	0.77112	-0.2708	10	0.87932	D	0	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	798;1080	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	1080;16;16	ENSP00000384160:R1080C	ENSP00000341583:R16C	R	+	1	0	0	RBM33	155251973	155251973	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	7.117000	0.77129	2.589000	0.87451	0.655000	0.94253	CGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-5.768426	1	0.170000	NM_001008408			20	20		148	146	1		1	1		0	0	28	0		9.999961e-01	9.403138e-01	0	9	0	28	0	20	148
RNF32	140545	broad.mit.edu	37	7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C	rs200222056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	241						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517																																						ENST00000405335.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(721-723)aAc>aCc		ring finger protein 32							132.0	128.0	129.0					7																	156468427		2203	4300	6503	SO:0001583	missense	140545	9	121412	43				g.chr7:156468427A>C		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.722A>C	chr7.hg19:g.156468427A>C	ENSP00000385285:p.Asn241Thr	0					RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T	p.N241T			0	0	0	1.922693	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	9	1131	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	1	1	hg19	c.722A>C	CCDS5944.1	1	.	.	.	.	.	.	.	.	.	.	A	3.878	-0.026452	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22743	2.3;2.3;2.3;1.94;2.3;1.97	5.23	1.57	0.23409	5.23	1.57	0.23409	.	0.722210	0.14790	N	0.298282	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.001	T	0.27054	-1.0085	10	0.30854	T	0.27	-3.3078	8.2561	0.31758	0.6967:0.0:0.3033:0.0	.	241;241	G5E940;Q9H0A6	.;RNF32_HUMAN	T	241;241;241;241;241;217	ENSP00000405588:N241T;ENSP00000315950:N241T;ENSP00000385285:N241T;ENSP00000308894:N241T;ENSP00000376499:N241T;ENSP00000341185:N217T	ENSP00000308894:N241T	N	+	2	0	0	RNF32	156161188	156161188	0.000000	0.05858	0.052000	0.19188	0.584000	0.36387	0.021000	0.13489	0.029000	0.15352	-0.274000	0.10170	AAC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	0	0		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_030936			84	81		443	434	1		1	1		0	0	94	0		1	6.795201e-01	0	4	0	10	0	84	443
RNF32	140545	broad.mit.edu	37	7	156468458	156468458	+	Silent	SNP	C	C	T	rs560066728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000317955.5_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	251						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488																																						ENST00000405335.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(751-753)atC>atT		ring finger protein 32							153.0	147.0	149.0					7																	156468458		2203	4300	6503	SO:0001819	synonymous_variant	140545	1	121412	35				g.chr7:156468458C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.753C>T	chr7.hg19:g.156468458C>T		0					RNF32_ENST00000311822.8_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000343665.4_Silent_p.I227I	p.I251I			0	0	0	1.922693	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	9	1162	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	1	1	hg19	c.753C>T	CCDS5944.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	1	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-3.323536	1	0.170000	NM_030936			100	99		513	497	1		1	1		0	0	105	0		1	6.924789e-01	0	6	0	8	0	100	513
LMBR1	64327	broad.mit.edu	37	7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	186					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATAGAACTCCCAGAGATCta	0.289																																						ENST00000353442.5	1.000000	0.690000	1	8.900000e-01	0.990000	0.960771	0.990000	1.000000																										0				18						c.(556-558)tgG>tgA		limb development membrane protein 1							23.0	26.0	25.0					7																	156555863		2185	4269	6454	SO:0001587	stop_gained	64327	0	0					g.chr7:156555863C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.558G>A	chr7.hg19:g.156555863C>T	ENSP00000326604:p.Trp186*	0					LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	p.W186*	NM_022458.3	NP_071903.2	0	0	0	1.922693	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	7	794	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Nonsense_Mutation	SNP	ENST00000353442.5	0	1	hg19	c.558G>A	CCDS5945.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.944995	0.97952	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0404	18.8532	0.92241	0.0:1.0:0.0:0.0	.	.	.	.	X	186;34;184;186;165;186	.	ENSP00000337803:W186X	W	-	3	0	0	LMBR1	156248624	156248624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.266000	0.58871	2.547000	0.85894	0.655000	0.94253	TGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-3.018126	1	0.170000	NM_022458			16	16		139	137	1		1	1		0	0	22	0		9.999435e-01	9.976254e-01	0	3	0	87	0	16	139
LMBR1	64327	broad.mit.edu	37	7	156589187	156589187	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1						embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCCACAAACCTATAAAAAGG	0.313																																						ENST00000353442.5	1.000000	0.930000	1	9.900000e-01	0.990000	0.995672	0.990000	1.000000																										0				18						c.e5-1		limb development membrane protein 1							44.0	40.0	42.0					7																	156589187		2203	4300	6503	SO:0001630	splice_region_variant	64327	0	0					g.chr7:156589187C>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.320-1G>T	chr7.hg19:g.156589187C>A		0					LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site		NM_022458.3	NP_071903.2	0	0	0	1.922693	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	5	556	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Splice_Site	SNP	ENST00000353442.5	1	1	hg19		CCDS5945.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771340	0.49680	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	4.67	4.67	0.58626	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0087	0.89217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	LMBR1	156281948	156281948	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	7.064000	0.76721	2.326000	0.78906	0.485000	0.47835	.	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	1	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-10.621030	1	0.170000	NM_022458	Intron		12	12		51	49	1		1			0	0	17	0		9.993068e-01	0	0	0	0	0	0	12	51
MNX1	3110	broad.mit.edu	37	7	156803024	156803024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MNX1_ENST00000469500.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000543409.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	7					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716																																						ENST00000252971.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998458	0.990000	1.000000																										0				7						c.(19-21)ttC>ttT		motor neuron and pancreas homeobox 1							8.0	10.0	10.0					7																	156803024		1655	3164	4819	SO:0001819	synonymous_variant	3110	0	0					g.chr7:156803024G>A	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.21C>T	chr7.hg19:g.156803024G>A		0					MNX1_ENST00000469500.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000543409.1_5'Flank	p.F7F	NM_005515.3	NP_005506.3	0	0	0	1.922693	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	1	321	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	1	1	hg19	c.21C>T	CCDS34788.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3	1	0	1		2	2	2	0		0	0	16		16	11	1	2.060000	-20.000000	1	0.170000				17	12		78	63	0		1			0	0	16	0		9.998609e-01	0	0	0	0	0	0	17	78
UBE3C	9690	broad.mit.edu	37	7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	298					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)			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)		CGAGCCCTTTCTGAATGCACT	0.438																																						ENST00000348165.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(892-894)Ctg>Atg		ubiquitin protein ligase E3C							102.0	101.0	101.0					7																	156974923		2203	4300	6503	SO:0001583	missense	9690	0	0					g.chr7:156974923C>A	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.892C>A	chr7.hg19:g.156974923C>A	ENSP00000309198:p.Leu298Met	0					UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	p.L298M	NM_014671.2	NP_055486.2	0	0	0	1.922693	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	8	1252	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	1	1	hg19	c.892C>A	CCDS34789.1	1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259424	0.59321	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55588	0.51	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.998;0.999	T	0.69105	-0.5233	10	0.33940	T	0.23	.	18.4758	0.90792	0.0:1.0:0.0:0.0	.	298;298;255	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	M	298;255	ENSP00000309198:L298M	ENSP00000309198:L298M	L	+	1	2	2	UBE3C	156667684	156667684	1.000000	0.71417	0.705000	0.30386	0.062000	0.15995	7.455000	0.80726	2.366000	0.80165	0.455000	0.32223	CTG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_014671			96	93		482	475	1		1	1		0	0	89	0		1	1	0	51	0	111	0	96	482
NCAPG2	54892	broad.mit.edu	37	7	158448052	158448052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409423.1	-	21	2656	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000409339.3_Silent_p.L828L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000449727.2_Silent_p.L828L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522																																						ENST00000409423.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2482-2484)ctG>ctA		non-SMC condensin II complex, subunit G2							142.0	158.0	152.0					7																	158448052		2081	4216	6297	SO:0001819	synonymous_variant	54892	1	121072	34				g.chr7:158448052C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2484G>A	chr7.hg19:g.158448052C>T		0					NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000409339.3_Silent_p.L828L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L	p.L828L	NM_001281932.1	NP_001268861.1	0	0	0	1.922693	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	21	2656	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	1	1	hg19	c.2484G>A	CCDS43686.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	1		2	2	2	0		0	0	257		257	256	1	2.060000	-20.000000	1	0.170000	NM_017760			171	170		887	870	1		1	1		0	0	257	0		1	9.938936e-01	0	10	0	31	0	171	887
NCAPG2	54892	broad.mit.edu	37	7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409423.1	-	15	1771	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000409339.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	533					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572																																						ENST00000409423.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1597-1599)gaG>gaT		non-SMC condensin II complex, subunit G2							91.0	96.0	94.0					7																	158457323		2139	4259	6398	SO:0001583	missense	54892	0	0					g.chr7:158457323C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1599G>T	chr7.hg19:g.158457323C>A	ENSP00000386569:p.Glu533Asp	0					NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D	p.E533D	NM_001281932.1	NP_001268861.1	0	0	0	1.922693	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	15	1771	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	1	1	hg19	c.1599G>T	CCDS43686.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.41;1.41;1.49;1.41;1.41|.	5.71|5.71	3.88|3.88	0.44766|0.44766	5.71|5.71	3.88|3.88	0.44766|0.44766	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60196|0.60196	0.2250|0.2250	L|L	0.50333|0.50333	1.59|1.59	0.46458|0.46458	D|D	0.999054|0.999054	D;D;D;D|.	0.89917|.	1.0;0.996;0.999;1.0|.	D;P;D;D|.	0.87578|.	0.998;0.875;0.991;0.996|.	T|T	0.57985|0.57985	-0.7716|-0.7716	10|5	0.36615|.	T|.	0.2|.	-33.4837|-33.4837	11.8166|11.8166	0.52214|0.52214	0.0:0.8046:0.0:0.1954|0.0:0.8046:0.0:0.1954	.|.	533;34;325;533|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	D|M	34;533;533;325;533;34;533|335	ENSP00000442337:E34D;ENSP00000348657:E533D;ENSP00000386569:E533D;ENSP00000275830:E325D;ENSP00000387007:E533D;ENSP00000388326:E533D|.	ENSP00000275830:E325D|.	E|R	-|-	3|2	2|0	2|0	NCAPG2|NCAPG2	158150084|158150084	158150084|158150084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.617000|1.617000	0.36943|0.36943	1.548000|1.548000	0.49413|0.49413	0.655000|0.655000	0.94253|0.94253	GAG|AGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-3.323453	1	0.170000	NM_017760			88	87		459	455	1		1	1		0	0	132	0		1	9.921704e-01	0	9	0	32	0	88	459
NCAPG2	54892	broad.mit.edu	37	7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A	rs201348020		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409423.1	-	11	1130	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000409339.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	320					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCCCTGCCGAACTTTCTTT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		16217	0.0		0.001	False		,,,				2504	0.0					ENST00000409423.1	1.000000	0.560000	9.800000e-01	6.800000e-01	0.820000	0.826391	0.820000	1.000000																										0				39						c.(958-960)Cgg>Tgg		non-SMC condensin II complex, subunit G2							79.0	75.0	76.0					7																	158473475		1805	4069	5874	SO:0001583	missense	54892	2	120780	37				g.chr7:158473475G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.958C>T	chr7.hg19:g.158473475G>A	ENSP00000386569:p.Arg320Trp	0					NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000409339.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W	p.R320W	NM_001281932.1	NP_001268861.1	0	0	0	1.922693	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	11	1130	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	1	1	hg19	c.958C>T	CCDS43686.1	0	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.768352	0.49680	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.22	5.22	0.72569	5.22	5.22	0.72569	Armadillo-type fold (1);	0.297322	0.37261	N	0.002179	T	0.67325	0.2881	L	0.57536	1.79	0.47737	D	0.999508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.69658	-0.5086	10	0.87932	D	0	-20.4179	19.1636	0.93544	0.0:0.0:1.0:0.0	.	320;112;320	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	W	320;320;112;320;320	ENSP00000348657:R320W;ENSP00000386569:R320W;ENSP00000275830:R112W;ENSP00000387007:R320W;ENSP00000388326:R320W	ENSP00000275830:R112W	R	-	1	2	2	NCAPG2	158166236	158166236	1.000000	0.71417	0.187000	0.23214	0.144000	0.21451	5.086000	0.64474	2.590000	0.87494	0.655000	0.94253	CGG	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.966610	1	0.170000	NM_017760			29	29		368	365	0		1	1		0	0	61	0		1	6.769283e-01	0	2	0	29	0	29	368
ESYT2	57488	broad.mit.edu	37	7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	698					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572																																						ENST00000251527.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(2008-2010)gGc>gAc		extended synaptotagmin-like protein 2							59.0	63.0	62.0					7																	158534454		2203	4300	6503	SO:0001583	missense	57488	0	0					g.chr7:158534454C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2009G>A	chr7.hg19:g.158534454C>T	ENSP00000251527:p.Gly670Asp	0					ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	p.G670D	NM_020728.2	NP_065779.1	0	0	0	1.922693	A0FGR8	ESYT2_HUMAN		17	2074	-			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	1	1	hg19	c.2009G>A	CCDS34791.1	1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315979	0.01331	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.19669	2.13;2.13;2.53	5.51	2.48	0.30137	5.51	2.48	0.30137	.	0.993034	0.08196	N	0.983139	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.39981	-0.9587	10	0.12430	T	0.62	-26.6989	6.1546	0.20330	0.0:0.4376:0.3875:0.1749	.	670;698	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	670;719;661;105;105;494	ENSP00000251527:G670D;ENSP00000275418:G661D;ENSP00000411488:G105D	ENSP00000251527:G670D	G	-	2	0	0	ESYT2	158227215	158227215	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.079000	0.30766	0.614000	0.30107	0.650000	0.86243	GGC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_020728			57	56		276	273	1		1	1		0	0	63	0		1	1	0	81	0	273	0	57	276
WDR60	55112	broad.mit.edu	37	7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	272					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423																																						ENST00000407559.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(814-816)Cac>Tac		WD repeat domain 60							76.0	79.0	78.0					7																	158672615		1890	4095	5985	SO:0001583	missense	55112	0	0					g.chr7:158672615C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.814C>T	chr7.hg19:g.158672615C>T	ENSP00000384290:p.His272Tyr	0						p.H272Y	NM_018051.4	NP_060521.4	0	0	0	1.922693	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	5	972	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	1	1	hg19	c.814C>T	CCDS47757.1	1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779189	0.49891	.	.	ENSG00000126870	ENST00000407559	T	0.24151	1.87	4.73	3.83	0.44106	4.73	3.83	0.44106	.	0.534306	0.18461	N	0.140511	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	0.999998	P	0.44521	0.837	B	0.37451	0.25	T	0.12889	-1.0530	10	0.02654	T	1	-3.3053	9.3825	0.38322	0.0:0.8948:0.0:0.1052	.	272	Q8WVS4	WDR60_HUMAN	Y	272	ENSP00000384290:H272Y	ENSP00000384290:H272Y	H	+	1	0	0	WDR60	158365376	158365376	0.622000	0.27085	0.325000	0.25375	0.002000	0.02628	0.399000	0.20916	2.339000	0.79563	0.655000	0.94253	CAC	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_018051			55	56		168	165	1		1	1		0	0	44	0		1	9.993308e-01	0	11	0	26	0	55	168
WDR60	55112	broad.mit.edu	37	7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	299					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACACAGAAATCGAGGTGC	0.423																																						ENST00000407559.3	1.000000	0.470000	1	6.500000e-01	0.870000	0.841782	0.870000	1.000000																										0				35						c.(895-897)Aat>Cat		WD repeat domain 60							93.0	94.0	93.0					7																	158677270		1930	4147	6077	SO:0001583	missense	55112	0	0					g.chr7:158677270A>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.895A>C	chr7.hg19:g.158677270A>C	ENSP00000384290:p.Asn299His	0						p.N299H	NM_018051.4	NP_060521.4	0	0	0	1.922693	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	6	1053	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	1	1	hg19	c.895A>C	CCDS47757.1	1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218884	0.06101	.	.	ENSG00000126870	ENST00000407559	T	0.22945	1.93	4.31	1.86	0.25419	4.31	1.86	0.25419	.	0.412908	0.23791	N	0.044526	T	0.11067	0.0270	N	0.17082	0.46	0.19300	N	0.99998	B	0.06786	0.001	B	0.04013	0.001	T	0.33189	-0.9878	10	0.10377	T	0.69	-9.2587	4.4363	0.11552	0.6918:0.2006:0.1076:0.0	.	299	Q8WVS4	WDR60_HUMAN	H	299	ENSP00000384290:N299H	ENSP00000384290:N299H	N	+	1	0	0	WDR60	158370031	158370031	0.121000	0.22262	0.392000	0.26245	0.108000	0.19459	0.617000	0.24359	0.155000	0.19261	0.496000	0.49642	AAT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-15.977360	1	0.170000	NM_018051			11	10		131	128	0		1	1		0	0	28	0		9.982954e-01	7.680719e-01	0	7	0	28	0	11	131
VIPR2	7434	broad.mit.edu	37	7	158835849	158835849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	158					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)			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)		GGATGTAATTCCTGGTGCAGT	0.557																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999951	0.990000	1.000000																										0				22						c.(472-474)agG>agA		vasoactive intestinal peptide receptor 2							113.0	98.0	103.0					7																	158835849		2203	4300	6503	SO:0001819	synonymous_variant	7434	0	0					g.chr7:158835849C>T	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.474G>A	chr7.hg19:g.158835849C>T		0					VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	p.R158R	NM_003382.4	NP_003373.2	0	0	0	1.922693	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	6	659	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	1	1	hg19	c.474G>A	CCDS5950.1	1																																																																																								1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_003382			31	29		138	132	1		1	0		0	0	45	0		1	3.590371e-02	0	0	0	2	0	31	138
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567																																						ENST00000406797.1	1.000000	0.940000	1	9.900000e-01	0.990000	0.996224	0.990000	1.000000																										1	Substitution - Missense(1)	p.E247K(1)	lung(1)	17						c.(739-741)Gag>Aag		protein kinase, cAMP-dependent, regulatory, type I, beta							151.0	108.0	122.0					7																	624175		2202	4295	6497	SO:0001583	missense	5575	0	0					g.chr7:624175C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.739G>A	chr7.hg19:g.624175C>T	ENSP00000385749:p.Glu247Lys	0					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K	p.E247K	NM_001164761.1	NP_001158233.1	1	2	3	2.000345	P31321	KAP1_HUMAN		8	913	-		Ovarian(82;0.0779)	Q8N422	Missense_Mutation	SNP	ENST00000406797.1	1	1	hg19	c.739G>A	CCDS34579.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	0	PRKAR1B	590701	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-3.080343	1	0.170000				19	19		132	130	1		1	1		0	0	29	0		9.999930e-01	9.953450e-01	0	5	0	59	0	19	132
PRKAR1B	5575	broad.mit.edu	37	7	720210	720210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	111	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692																																						ENST00000406797.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				17						c.(331-333)Gtg>Atg		protein kinase, cAMP-dependent, regulatory, type I, beta							43.0	40.0	41.0					7																	720210		2203	4300	6503	SO:0001583	missense	5575	0	0					g.chr7:720210C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.331G>A	chr7.hg19:g.720210C>T	ENSP00000385749:p.Val111Met	0					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M	p.V111M	NM_001164761.1	NP_001158233.1	1	2	3	2.000345	P31321	KAP1_HUMAN		3	505	-		Ovarian(82;0.0779)	Q8N422	Missense_Mutation	SNP	ENST00000406797.1	1	1	hg19	c.331G>A	CCDS34579.1	1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447981	0.43429	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92495	-2.04;-2.04;-2.04;-2.04;-2.04;-3.04;-1.89;-3.05	4.91	4.91	0.64330	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);	0.089401	0.44688	U	0.000437	D	0.86969	0.6061	L	0.29908	0.895	0.58432	D	0.999998	P	0.39551	0.678	B	0.33890	0.172	D	0.87960	0.2729	10	0.49607	T	0.09	-21.7663	18.0789	0.89436	0.0:1.0:0.0:0.0	.	111	P31321	KAP1_HUMAN	M	111;111;111;111;111;111;56;111	ENSP00000440449:V111M;ENSP00000444487:V111M;ENSP00000385749:V111M;ENSP00000385349:V111M;ENSP00000353415:V111M;ENSP00000402648:V111M;ENSP00000394633:V56M;ENSP00000406670:V111M	ENSP00000353415:V111M	V	-	1	0	0	PRKAR1B	686736	686736	1.000000	0.71417	0.850000	0.33497	0.099000	0.18886	7.101000	0.76997	2.271000	0.75665	0.561000	0.74099	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1	1	0	1		2	2	2	0		0	0	31		31	29	1	2.060000	-20.000000	1	0.170000				39	38		183	177	0		1	1		0	0	31	0		1	9.938817e-01	0	3	0	37	0	39	183
HEATR2	54919	broad.mit.edu	37	7	796502	796502	+	Silent	SNP	G	G	A	rs200587511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	447						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622																																						ENST00000297440.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1339-1341)acG>acA		HEAT repeat containing 2							83.0	85.0	85.0					7																	796502		2203	4300	6503	SO:0001819	synonymous_variant	54919	5	121408	38				g.chr7:796502G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1341G>A	chr7.hg19:g.796502G>A		0					HEATR2_ENST00000313147.5_Silent_p.T447T	p.T447T	NM_017802.3	NP_060272.3	1	2	3	2.000345	Q86Y56	HEAT2_HUMAN		6	1361	+		Ovarian(82;0.0112)	Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	1	1	hg19	c.1341G>A	CCDS34580.1	1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906673	0.02434	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	5.49	-11.0	0.00169	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.21325	N	0.99972	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	-5.2294	8.587	0.33664	0.6847:0.0758:0.088:0.1516	.	.	.	.	T	249	.	.	A	+	1	0	0	HEATR2	763028	763028	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	-0.928000	0.03980	-2.750000	0.00375	-0.749000	0.03505	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_017802			83	82		394	388	1		1	1		0	0	105	0		1	9.981629e-01	0	21	0	26	0	83	394
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587																																						ENST00000297440.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				22						c.(1486-1488)Cgc>Tgc		HEAT repeat containing 2							89.0	63.0	72.0					7																	801405		2201	4300	6501	SO:0001583	missense	54919	0	0					g.chr7:801405C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1486C>T	chr7.hg19:g.801405C>T	ENSP00000297440:p.Arg496Cys	0					HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	p.R496C	NM_017802.3	NP_060272.3	1	2	3	2.000345	Q86Y56	HEAT2_HUMAN		7	1506	+		Ovarian(82;0.0112)	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	1	1	hg19	c.1486C>T	CCDS34580.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842869|2.842869	0.51057|0.51057	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.31510	.|1.49;1.49	5.38|5.38	2.45|2.45	0.29901|0.29901	5.38|5.38	2.45|2.45	0.29901|0.29901	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320952	.|0.33895	.|N	.|0.004444	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.32099|0.32099	N|N	0.590828|0.590828	.|D;D	.|0.63046	.|0.987;0.992	.|B;P	.|0.49502	.|0.409;0.613	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.45353	.|T	.|0.12	-17.9518|-17.9518	8.198|8.198	0.31409|0.31409	0.3049:0.621:0.0:0.0741|0.3049:0.621:0.0:0.0741	.|.	.|496;242	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	297|496;496;242	.|ENSP00000297440:R496C;ENSP00000321451:R496C	.|ENSP00000297440:R496C	A|R	+|+	2|1	0|0	0|0	HEATR2|HEATR2	767931|767931	767931|767931	0.999000|0.999000	0.42202|0.42202	0.913000|0.913000	0.36048|0.36048	0.296000|0.296000	0.27459|0.27459	1.696000|1.696000	0.37773|0.37773	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCG|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_017802			17	17		52	52	1		1	1		0	0	10	0		9.999859e-01	9.998666e-01	0	5	0	48	0	17	52
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297440.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2197-2199)ggC>ggT		HEAT repeat containing 2							109.0	103.0	105.0					7																	814759		2203	4300	6503	SO:0001819	synonymous_variant	54919	0	0					g.chr7:814759C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2199C>T	chr7.hg19:g.814759C>T		0		OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	p.G733G	NM_017802.3	NP_060272.3	1	2	3	2.000345	Q86Y56	HEAT2_HUMAN		11	2219	+		Ovarian(82;0.0112)	Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	1	1	hg19	c.2199C>T	CCDS34580.1	1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037850	0.08148	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.15	-6.33	0.01988	5.15	-6.33	0.01988	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	-8.5751	11.3342	0.49494	0.0:0.2364:0.6131:0.1504	.	.	.	.	W	535	.	.	R	+	1	2	2	HEATR2	781285	781285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.031000	0.03308	-0.367000	0.07326	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.385489	1	0.170000	NM_017802			45	44		197	190	1		1	1		0	0	51	0		1	9.999709e-01	0	31	0	41	0	45	197
HEATR2	54919	broad.mit.edu	37	7	825229	825229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607																																						ENST00000297440.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2506-2508)cGc>cAc		HEAT repeat containing 2							72.0	69.0	70.0					7																	825229		2203	4300	6503	SO:0001583	missense	54919	4	121402	37				g.chr7:825229G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2507G>A	chr7.hg19:g.825229G>A	ENSP00000297440:p.Arg836His	0					HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	p.R836H	NM_017802.3	NP_060272.3	1	2	3	2.000345	Q86Y56	HEAT2_HUMAN		13	2527	+		Ovarian(82;0.0112)	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	1	1	hg19	c.2507G>A	CCDS34580.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	0	HEATR2	791755	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_017802			104	104		399	396	1		1	1		0	0	82	0		1	1	0	21	0	84	0	104	399
SUN1	23353	broad.mit.edu	37	7	881707	881707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000405266.1	+	3	415	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557																																						ENST00000405266.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(391-393)Cgg>Tgg		Sad1 and UNC84 domain containing 1							80.0	82.0	81.0					7																	881707		2093	4222	6315	SO:0001583	missense	23353	8	121036	37				g.chr7:881707C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.391C>T	chr7.hg19:g.881707C>T	ENSP00000384116:p.Arg131Trp	0					SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W	p.R131W			1	2	3	2.000345	O94901	SUN1_HUMAN		3	415	+			A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	1	1	hg19	c.391C>T		1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248255	0.59103	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	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	5.55	2.37	0.29283	5.55	2.37	0.29283	.	1.239010	0.05371	N	0.535383	T	0.62307	0.2417	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.993;0.98	P;D;D;P;P	0.75484	0.536;0.939;0.986;0.685;0.502	T	0.35001	-0.9806	10	0.54805	T	0.06	-19.1256	4.5681	0.12196	0.3475:0.4667:0.1049:0.0809	.	131;131;152;81;131	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	W	189;81;152;131;131;131;131;131;131;131;81;106	ENSP00000388743:R189W;ENSP00000374225:R81W;ENSP00000395952:R152W;ENSP00000413439:R131W;ENSP00000388430:R131W;ENSP00000413188:R131W;ENSP00000384116:R131W;ENSP00000384015:R131W;ENSP00000383947:R131W;ENSP00000392309:R81W;ENSP00000392595:R106W	ENSP00000297445:R131W	R	+	1	2	2	SUN1	848233	848233	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.225000	0.09151	0.668000	0.31126	0.563000	0.77884	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_025154			56	57		231	228	1		1	1		0	0	53	0		1	1	0	41	0	83	0	56	231
SUN1	23353	broad.mit.edu	37	7	897557	897557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000405266.1	+	14	1622	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	523					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478																																						ENST00000405266.1	1.000000	0.760000	1	8.600000e-01	0.960000	0.943446	0.960000	1.000000																										0				30						c.(1597-1599)aAg>aCg		Sad1 and UNC84 domain containing 1							131.0	144.0	140.0					7																	897557		2022	4169	6191	SO:0001583	missense	23353	0	0					g.chr7:897557A>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1598A>C	chr7.hg19:g.897557A>C	ENSP00000384116:p.Lys533Thr	0					SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T	p.K533T			1	2	3	2.000345	O94901	SUN1_HUMAN		14	1622	+			A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	1	1	hg19	c.1598A>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138399|2.138399	0.37728|0.37728	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.27557	.|2.05;2.07;2.08;2.08;2.08;2.07;1.73;1.66	5.15|5.15	-0.28|-0.28	0.12886|0.12886	5.15|5.15	-0.28|-0.28	0.12886|0.12886	.|.	.|0.638636	.|0.17424	.|N	.|0.174706	T|T	0.41073|0.41073	0.1143|0.1143	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;B;P;D;P;P	.|0.59767	.|0.865;0.159;0.722;0.986;0.868;0.953	.|P;B;P;P;B;P	.|0.60949	.|0.675;0.379;0.488;0.881;0.316;0.766	T|T	0.21827|0.21827	-1.0234|-1.0234	5|10	.|0.66056	.|D	.|0.02	-14.0397|-14.0397	5.5309|5.5309	0.16985|0.16985	0.6499:0.1335:0.2167:0.0|0.6499:0.1335:0.2167:0.0	.|.	.|294;393;496;685;523;413	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|T	344|685;413;393;533;496;523;413;421;294	.|ENSP00000388743:K685T;ENSP00000374225:K413T;ENSP00000413439:K393T;ENSP00000384116:K533T;ENSP00000384015:K496T;ENSP00000392309:K413T;ENSP00000409909:K421T;ENSP00000389313:K294T	.|ENSP00000297445:K523T	E|K	+|+	3|2	2|0	2|0	SUN1|SUN1	864083|864083	864083|864083	0.101000|0.101000	0.21875|0.21875	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.341000|0.341000	0.19909|0.19909	-0.214000|-0.214000	0.10078|0.10078	-0.274000|-0.274000	0.10170|0.10170	GAA|AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	1	0	1		2	2	2	0		0	0	165		165	163	1	2.060000	-17.308670	1	0.170000	NM_025154			75	75		846	819	1		1	1		0	0	165	0		1	9.999999e-01	0	41	0	220	0	75	846
TMEM184A	202915	broad.mit.edu	37	7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T	rs374204193		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	101					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622																																						ENST00000297477.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(301-303)Gcc>Acc		transmembrane protein 184A			THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92.0	102.0	98.0		301	3.1	1.0	7		98	0,8600		0,0,4300	no	missense	TMEM184A	NM_001097620.1	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	101/414	1590537	2,13004	2203	4300	6503	SO:0001583	missense	202915	5	121384	41				g.chr7:1590537C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.301G>A	chr7.hg19:g.1590537C>T	ENSP00000297477:p.Ala101Thr	0						p.A101T	NM_001097620.1	NP_001091089.1	1	2	3	2.000345	Q6ZMB5	T184A_HUMAN		3	617	-		Ovarian(82;0.0253)	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	1	1	hg19	c.301G>A	CCDS43537.1	1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807201	0.70797	4.54E-4	0.0	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.05	3.08	0.35506	5.05	3.08	0.35506	.	0.129788	0.51477	U	0.000089	T	0.66499	0.2795	M	0.87328	2.875	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	T	0.74328	-0.3701	10	0.66056	D	0.02	-7.3466	12.4568	0.55708	0.4328:0.5672:0.0:0.0	.	101	Q6ZMB5	T184A_HUMAN	T	101	ENSP00000297477:A101T;ENSP00000325945:A101T;ENSP00000398382:A101T;ENSP00000389092:A101T;ENSP00000403499:A101T	ENSP00000297477:A101T	A	-	1	0	0	TMEM184A	1557063	1557063	0.998000	0.40836	0.957000	0.39632	0.801000	0.45260	3.733000	0.55029	1.091000	0.41335	0.407000	0.27541	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	1	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_152689			61	59		203	200	1		1	1		0	0	48	0		1	9.858805e-01	0	11	0	14	0	61	203
TMEM184A	202915	broad.mit.edu	37	7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627																																						ENST00000297477.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				12						c.(274-276)cGc>cAc		transmembrane protein 184A							95.0	104.0	101.0					7																	1590563		2203	4300	6503	SO:0001583	missense	202915	3	121374	31				g.chr7:1590563C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.275G>A	chr7.hg19:g.1590563C>T	ENSP00000297477:p.Arg92His	0						p.R92H	NM_001097620.1	NP_001091089.1	1	2	3	2.000345	Q6ZMB5	T184A_HUMAN		3	591	-		Ovarian(82;0.0253)	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	1	1	hg19	c.275G>A	CCDS43537.1	1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575764	0.65878	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.15	4.27	0.50696	5.15	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.81346	0.4803	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87494	0.2429	10	0.87932	D	0	-5.0589	13.7268	0.62763	0.0:0.9248:0.0:0.0752	.	92	Q6ZMB5	T184A_HUMAN	H	92	ENSP00000297477:R92H;ENSP00000325945:R92H;ENSP00000398382:R92H;ENSP00000389092:R92H;ENSP00000403499:R92H	ENSP00000297477:R92H	R	-	2	0	0	TMEM184A	1557089	1557089	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.651000	0.83577	1.166000	0.42689	0.407000	0.27541	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_152689			33	33		196	193	1		1	1		0	0	38	0		1	9.199151e-01	0	7	0	21	0	33	196
MAD1L1	8379	broad.mit.edu	37	7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000406869.1	-	14	1940	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	461	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627																																						ENST00000406869.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1381-1383)gaG>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							128.0	148.0	142.0					7																	2041733		2071	4215	6286	SO:0001583	missense	8379	0	0					g.chr7:2041733C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1383G>T	chr7.hg19:g.2041733C>A	ENSP00000385334:p.Glu461Asp	0					MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D	p.E461D			1	2	3	2.000345	Q9Y6D9	MD1L1_HUMAN		14	1940	-		Ovarian(82;0.0272)	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	1	1	hg19	c.1383G>T	CCDS43539.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953479	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.51	2.23	0.28157	5.51	2.23	0.28157	.	0.112010	0.64402	D	0.000014	T	0.36386	0.0965	L	0.55834	1.745	0.34495	D	0.705382	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.66716	0.946;0.946;0.926	T	0.44143	-0.9347	10	0.37606	T	0.19	-36.0481	5.5262	0.16959	0.0:0.5627:0.0:0.4373	.	460;369;461	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	D	369;461;461;461;128;51	ENSP00000384155:E369D;ENSP00000382562:E461D;ENSP00000385334:E461D;ENSP00000265854:E461D;ENSP00000414877:E128D;ENSP00000393037:E51D	ENSP00000265854:E461D	E	-	3	2	2	MAD1L1	2008259	2008259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.347000	0.20014	0.664000	0.31047	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	1	0	1		2	2	2	0		0	0	199		199	197	1	2.060000	-20.000000	1	0.170000	NM_003550			213	207		875	857	1		1	1		0	0	199	0		1	1	0	46	0	78	0	213	875
LFNG	3955	broad.mit.edu	37	7	2559814	2559814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	ENST00000222725.5	+	1	339	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	107					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gcgccccctggccgagccgct	0.731																																						ENST00000222725.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				6						c.(319-321)Gcc>Acc		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							6.0	7.0	7.0					7																	2559814		1719	3782	5501	SO:0001583	missense	3955	0	0					g.chr7:2559814G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.319G>A	chr7.hg19:g.2559814G>A	ENSP00000222725:p.Ala107Thr	0					LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron	p.A107T	NM_001040167.1	NP_001035257.1	1	2	3	2.000345	Q8NES3	LFNG_HUMAN		1	339	+		Ovarian(82;0.0112)	B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	0	1	hg19	c.319G>A	CCDS34587.1	1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.867809	0.32977	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.59364	0.59;0.27	3.89	0.404	0.16355	3.89	0.404	0.16355	.	0.441173	0.23821	N	0.044222	T	0.42291	0.1196	L	0.47716	1.5	0.80722	D	1	P;B	0.40476	0.718;0.031	B;B	0.39258	0.295;0.006	T	0.23904	-1.0175	10	0.12766	T	0.61	-0.2127	7.8891	0.29667	0.1058:0.3088:0.5854:0.0	.	107;107	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	T	107	ENSP00000222725:A107T;ENSP00000352579:A107T	ENSP00000222725:A107T	A	+	1	0	0	LFNG	2526340	2526340	1.000000	0.71417	0.481000	0.27354	0.663000	0.39108	2.938000	0.48987	0.624000	0.30286	-0.247000	0.11927	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	0	0	1		2	2	2	0		0	0	18		18	16	1	2.060000	-20.000000	1	0.170000	NM_002304			27	26		111	107	0		1	1		0	0	18	0		1	8.152743e-01	0	7	0	8	0	27	111
TTYH3	80727	broad.mit.edu	37	7	2697971	2697971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000407643.1_Silent_p.A402A|TTYH3_ENST00000403167.1_Silent_p.A263A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	434					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701																																						ENST00000258796.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999766	0.990000	1.000000																										0				17						c.(1300-1302)gcG>gcA		tweety family member 3							18.0	16.0	17.0					7																	2697971		2187	4281	6468	SO:0001819	synonymous_variant	80727	0	0					g.chr7:2697971G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1302G>A	chr7.hg19:g.2697971G>A		0					TTYH3_ENST00000403167.1_Silent_p.A263A|TTYH3_ENST00000407643.1_Silent_p.A402A	p.A434A	NM_025250.2	NP_079526.1	1	2	3	2.000345	Q9C0H2	TTYH3_HUMAN		12	1507	+		Ovarian(82;0.0112)	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	1	1	hg19	c.1302G>A	CCDS34588.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000	XM_166523			19	19		94	91	1		1	1		0	0	14	0		9.999935e-01	1	0	79	0	192	0	19	94
AMZ1	155185	broad.mit.edu	37	7	2752047	2752047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000312371.4	+	7	1400	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	AMZ1_ENST00000407112.1_Missense_Mutation_p.A288T|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	344							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672																																						ENST00000312371.4	1.000000	0.870000	1	9.900000e-01	0.990000	0.992521	0.990000	1.000000																										0				16						c.(1030-1032)ccG>ccA		archaelysin family metallopeptidase 1							21.0	26.0	24.0					7																	2752047		2202	4298	6500	SO:0001819	synonymous_variant	155185	5	121076	35				g.chr7:2752047G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1032G>A	chr7.hg19:g.2752047G>A		0					AMZ1_ENST00000407112.1_Missense_Mutation_p.A288T|AMZ1_ENST00000489665.1_Intron	p.P344P	NM_133463.1	NP_597720.1	1	2	3	2.000345	Q400G9	AMZ1_HUMAN		7	1400	+		Ovarian(82;0.0779)	B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	1	1	hg19	c.1032G>A	CCDS34589.1	1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.053063	0.08291	.	.	ENSG00000174945	ENST00000407112	T	0.37058	1.22	4.66	-2.71	0.05986	4.66	-2.71	0.05986	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29518	-1.0009	8	0.72032	D	0.01	-5.1853	1.1093	0.01700	0.3229:0.1307:0.3488:0.1977	.	288	B3KRS0	.	T	288	ENSP00000386020:A288T	ENSP00000386020:A288T	A	+	1	0	0	AMZ1	2718573	2718573	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.282000	0.08445	-0.480000	0.06803	-0.355000	0.07637	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-2.601871	1	0.170000	NM_133463			17	17		125	121	1		1	0		0	0	23	0		9.999687e-01	1.637931e-02	0	0	0	2	0	17	125
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A	rs376039195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|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 interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672			Mis		DLBCL																																	ENST00000396946.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7p22	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""				L	L			DLBCL		0				150						c.(2959-2961)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	65.0	66.0	65.0		2960	4.4	1.0	7		65	0,8598		0,0,4299	no	missense	CARD11	NM_032415.4	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	987/1155	2952980	1,13003	2203	4299	6502	SO:0001583	missense	84433	1	121384	41				g.chr7:2952980G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2960C>T	chr7.hg19:g.2952980G>A	ENSP00000380150:p.Thr987Met	0						p.T987M	NM_032415.4	NP_115791.3	1	2	3	2.000345	Q9BXL7	CAR11_HUMAN		22	3363	-		Ovarian(82;0.0115)	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	1	1	hg19	c.2960C>T	CCDS5336.2	1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638367	0.29157	2.27E-4	0.0	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.36	4.36	0.52297	4.36	4.36	0.52297	.	0.307048	0.30556	N	0.009370	T	0.17280	0.0415	N	0.08118	0	0.44092	D	0.996857	P	0.35050	0.482	B	0.37047	0.24	T	0.09164	-1.0687	10	0.44086	T	0.13	-21.0385	10.5667	0.45177	0.0894:0.0:0.9106:0.0	.	987	Q9BXL7	CAR11_HUMAN	M	987	ENSP00000380150:T987M	ENSP00000380150:T987M	T	-	2	0	0	CARD11	2919506	2919506	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.970000	0.70431	1.985000	0.57927	0.484000	0.47621	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_032415			116	115		468	456	1		1	1		0	0	100	0		1	9.999989e-01	0	30	0	50	0	116	468
CARD11	84433	broad.mit.edu	37	7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|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 interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577			Mis		DLBCL																																	ENST00000396946.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000				Dom	yes			Dom	yes		7	7p22	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""				L	L			DLBCL		0				150						c.(1429-1431)tCt>tTt		caspase recruitment domain family, member 11							113.0	97.0	102.0					7																	2974175		2203	4300	6503	SO:0001583	missense	84433	0	0					g.chr7:2974175G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1430C>T	chr7.hg19:g.2974175G>A	ENSP00000380150:p.Ser477Phe	0						p.S477F	NM_032415.4	NP_115791.3	1	2	3	2.000345	Q9BXL7	CAR11_HUMAN		10	1833	-		Ovarian(82;0.0115)	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	1	1	hg19	c.1430C>T	CCDS5336.2	1	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086310	0.20390	.	.	ENSG00000198286	ENST00000396946	T	0.53423	0.62	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.447184	0.25369	N	0.031174	T	0.26629	0.0651	N	0.08118	0	0.27585	N	0.949457	B	0.18166	0.026	B	0.14023	0.01	T	0.10405	-1.0631	10	0.25106	T	0.35	-15.0704	11.2701	0.49133	0.0835:0.0:0.9165:0.0	.	477	Q9BXL7	CAR11_HUMAN	F	477	ENSP00000380150:S477F	ENSP00000380150:S477F	S	-	2	0	0	CARD11	2940701	2940701	0.809000	0.29036	0.108000	0.21378	0.170000	0.22686	2.543000	0.45752	2.458000	0.83093	0.561000	0.74099	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_032415			36	35		189	188	1		1	1		0	0	33	0		1	9.999387e-01	0	37	0	44	0	36	189
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A	rs375595635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R444H(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)		GGAGGCCTGCGCATCCAGAAG	0.592																																						ENST00000404826.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										1	Substitution - Missense(1)	p.R444H(1)	large_intestine(1)	153						c.(1330-1332)cGc>cAc		sidekick cell adhesion molecule 1		G	HIS/ARG	0,4406		0,0,2203	50.0	44.0	46.0		1331	2.5	1.0	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/2214	4002385	1,13005	2203	4300	6503	SO:0001583	missense	221935	7	121412	36				g.chr7:4002385G>A	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.1331G>A	chr7.hg19:g.4002385G>A	ENSP00000385899:p.Arg444His	0					SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	p.R444H	NM_152744.3	NP_689957.3	1	2	3	2.000345	Q7Z5N4	SDK1_HUMAN		9	1470	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	1	1	hg19	c.1331G>A	CCDS34590.1	1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	0	SDK1	3968911	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_152744			28	28		114	112	1		1	0		0	0	43	0		1	7.575032e-01	0	0	0	13	0	28	114
SDK1	221935	broad.mit.edu	37	7	4011159	4011159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000404826.2	+	12	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000389531.3_Silent_p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	592	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		CCACGGCCACGCTGCACTGTG	0.517																																						ENST00000404826.2	1.000000	0.580000	1	8.000000e-01	0.990000	0.929767	0.990000	1.000000																										0				153						c.(1774-1776)acG>acA		sidekick cell adhesion molecule 1							88.0	73.0	78.0					7																	4011159		2203	4300	6503	SO:0001819	synonymous_variant	221935	1	121408	37				g.chr7:4011159G>A	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.1776G>A	chr7.hg19:g.4011159G>A		0					SDK1_ENST00000389531.3_Silent_p.T592T	p.T592T	NM_152744.3	NP_689957.3	1	2	3	2.000345	Q7Z5N4	SDK1_HUMAN		12	1915	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	1	1	hg19	c.1776G>A	CCDS34590.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-16.494480	1	0.170000	NM_152744			11	11		112	111	0		1	0		0	0	29	0		9.985199e-01	3.213925e-01	0	0	0	12	0	11	112
SDK1	221935	broad.mit.edu	37	7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000404826.2	+	19	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	964	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		CACACCTCAGCTGGTCTGGAC	0.522																																						ENST00000404826.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(2890-2892)Ctg>Atg		sidekick cell adhesion molecule 1							126.0	118.0	121.0					7																	4091441		2203	4300	6503	SO:0001583	missense	221935	0	0					g.chr7:4091441C>A	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.2890C>A	chr7.hg19:g.4091441C>A	ENSP00000385899:p.Leu964Met	0					SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	p.L964M	NM_152744.3	NP_689957.3	1	2	3	2.000345	Q7Z5N4	SDK1_HUMAN		19	3029	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	1	1	hg19	c.2890C>A	CCDS34590.1	1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242853	0.22796	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.74658	0.3745	M	0.83384	2.64	0.42244	D	0.991944	P;D	0.63880	0.555;0.993	P;D	0.66084	0.587;0.941	T	0.74365	-0.3689	10	0.38643	T	0.18	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	964;964	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	964	ENSP00000385899:L964M;ENSP00000374182:L964M	ENSP00000374182:L964M	L	+	1	2	2	SDK1	4057967	4057967	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	3.111000	0.50360	2.648000	0.89879	0.650000	0.86243	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_152744			94	93		526	509	1		1	0		0	0	124	0		1	4.085115e-01	0	1	0	8	0	94	526
SDK1	221935	broad.mit.edu	37	7	4213928	4213928	+	Silent	SNP	C	C	T	rs201560962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000404826.2	+	33	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000389531.3_Silent_p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		AGTATGAAGCCGGGTCAGGCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20451	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(4873-4875)gcC>gcT		sidekick cell adhesion molecule 1		C		0,4406		0,0,2203	202.0	196.0	198.0		4875	-9.8	0.0	7		198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1625/2214	4213928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935	11	121412	46				g.chr7:4213928C>T	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.4875C>T	chr7.hg19:g.4213928C>T		0					SDK1_ENST00000389531.3_Silent_p.A1625A	p.A1625A	NM_152744.3	NP_689957.3	1	2	3	2.000345	Q7Z5N4	SDK1_HUMAN		33	5014	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	1	1	hg19	c.4875C>T	CCDS34590.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2	2	0		0	0	260		260	257	1	2.060000	-3.245688	1	0.170000	NM_152744			226	226		961	947	1		1	1		0	0	260	0		1	8.823156e-01	0	4	0	14	0	226	961
SDK1	221935	broad.mit.edu	37	7	4285374	4285374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000404826.2	+	44	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2106					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		ACAAGTACAACGGCGCCGTGC	0.602																																						ENST00000404826.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(6316-6318)aaC>aaT		sidekick cell adhesion molecule 1							87.0	76.0	80.0					7																	4285374		2203	4300	6503	SO:0001819	synonymous_variant	221935	3	121412	34				g.chr7:4285374C>T	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.6318C>T	chr7.hg19:g.4285374C>T		0					SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	p.N2106N	NM_152744.3	NP_689957.3	1	2	3	2.000345	Q7Z5N4	SDK1_HUMAN		44	6457	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	1	1	hg19	c.6318C>T	CCDS34590.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_152744			64	64		298	292	1		1	0		0	0	76	0		1	6.984657e-01	0	1	0	12	0	64	298
RADIL	55698	broad.mit.edu	37	7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000538469.1_Missense_Mutation_p.G671D|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	911	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				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)		AGGCTCAGGGCCAAGTGGAGT	0.716																																						ENST00000399583.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999819	0.990000	1.000000																										0				41						c.(2731-2733)gGc>gAc		Ras association and DIL domains							8.0	11.0	10.0					7																	4841394		1875	4062	5937	SO:0001583	missense	55698	0	0					g.chr7:4841394C>T	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.2732G>A	chr7.hg19:g.4841394C>T	ENSP00000382492:p.Gly911Asp	0					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	p.G911D	NM_018059.4	NP_060529.4	1	2	3	2.000345	Q96JH8	RADIL_HUMAN		12	2919	-		Ovarian(82;0.0175)	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	1	1	hg19	c.2732G>A	CCDS43544.1	1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473350	0.26423	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.06933	3.31;3.24	4.8	2.6	0.31112	4.8	2.6	0.31112	.	0.381481	0.27518	N	0.019006	T	0.10508	0.0257	L	0.60455	1.87	0.19575	N	0.999961	P;D	0.54772	0.544;0.968	B;P	0.51135	0.175;0.66	T	0.07908	-1.0748	10	0.07644	T	0.81	-19.2591	5.8629	0.18759	0.3355:0.562:0.0:0.1025	.	911;219	Q96JH8;Q75LH2	RADIL_HUMAN;.	D	911;882;671	ENSP00000382492:G911D;ENSP00000442966:G671D	ENSP00000320946:G882D	G	-	2	0	0	RADIL	4807920	4807920	0.529000	0.26322	0.015000	0.15790	0.022000	0.10575	0.844000	0.27654	0.998000	0.38996	-0.217000	0.12591	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_018059			19	19		91	89	1		1	0		0	0	19	0		9.999941e-01	3.318584e-02	0	1	0	1	0	19	91
RADIL	55698	broad.mit.edu	37	7	4874574	4874574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	ENST00000399583.3	-	4	1267	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_ENST00000538469.1_Silent_p.Q120Q|RADIL_ENST00000536091.1_Silent_p.Q360Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				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)		GGGGCTGGGCCTGCGCGGGGT	0.746																																						ENST00000399583.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997261	0.990000	1.000000																										0				41						c.(1078-1080)caG>caA		Ras association and DIL domains							9.0	12.0	11.0					7																	4874574		1856	4070	5926	SO:0001819	synonymous_variant	55698	0	0					g.chr7:4874574C>T	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.1080G>A	chr7.hg19:g.4874574C>T		0					RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	p.Q360Q	NM_018059.4	NP_060529.4	1	2	3	2.000345	Q96JH8	RADIL_HUMAN		4	1267	-		Ovarian(82;0.0175)	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	0	1	hg19	c.1080G>A	CCDS43544.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-20.000000	1	0.170000	NM_018059			15	14		91	89	0		1			0	0	15	0		9.998918e-01	0	0	0	0	0	0	15	91
RADIL	55698	broad.mit.edu	37	7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T	rs528259551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q|RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	278					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				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)		GGAGGGGGTCCGCTGGCCCAC	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11326	0.0		0.0	False		,,,				2504	0.0					ENST00000399583.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999866	0.990000	1.000000																										0				41						c.(832-834)cGg>cAg		Ras association and DIL domains							18.0	26.0	24.0					7																	4874821		2174	4248	6422	SO:0001583	missense	55698	1	121092	27				g.chr7:4874821C>T	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.833G>A	chr7.hg19:g.4874821C>T	ENSP00000382492:p.Arg278Gln	0					RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	p.R278Q	NM_018059.4	NP_060529.4	1	2	3	2.000345	Q96JH8	RADIL_HUMAN		4	1020	-		Ovarian(82;0.0175)	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	1	1	hg19	c.833G>A	CCDS43544.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.94|11.94	1.789670|1.789670	0.31685|0.31685	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000536091;ENST00000538469	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.75|4.75	3.87|3.87	0.44632|0.44632	4.75|4.75	3.87|3.87	0.44632|0.44632	.|Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.|0.678925	.|0.14484	.|N	.|0.316794	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.60455|0.60455	1.87|1.87	0.31687|0.31687	N|N	0.642347|0.642347	.|D	.|0.63046	.|0.992	.|P	.|0.50570	.|0.644	T|T	0.07731|0.07731	-1.0757|-1.0757	6|10	0.59425|0.27082	D|T	0.04|0.32	-7.1694|-7.1694	10.5807|10.5807	0.45255|0.45255	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|278	.|Q96JH8	.|RADIL_HUMAN	R|Q	13|278;278;38	.|ENSP00000382492:R278Q;ENSP00000442533:R278Q;ENSP00000442966:R38Q	ENSP00000437686:G13R|ENSP00000382492:R278Q	G|R	-|-	1|2	0|0	0|0	RADIL|RADIL	4841347|4841347	4841347|4841347	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.172000|0.172000	0.22775|0.22775	3.422000|3.422000	0.52749|0.52749	1.017000|1.017000	0.39495|0.39495	-0.119000|-0.119000	0.15052|0.15052	GGA|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_018059			22	22		112	109	1		1			0	0	19	0		9.999992e-01	0	0	0	0	0	0	22	112
PAPOLB	56903	broad.mit.edu	37	7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	634					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)			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)		TATAGGATTAGATATGTTTGT	0.413																																						ENST00000404991.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(1900-1902)Cta>Ata		poly(A) polymerase beta (testis specific)							50.0	50.0	50.0					7																	4899539		2017	4215	6232	SO:0001583	missense	56903	0	0					g.chr7:4899539G>T	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.1900C>A	chr7.hg19:g.4899539G>T	ENSP00000384700:p.Leu634Ile	0					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.L634I	NM_020144.4	NP_064529.4	1	2	3	2.000345	Q9NRJ5	PAPOB_HUMAN		1	2086	-		Ovarian(82;0.0175)	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	1	1	hg19	c.1900C>A		1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170825	0.21621	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.27	3.39	0.38822	4.27	3.39	0.38822	.	.	.	.	.	T	0.24547	0.0595	N	0.04508	-0.205	0.18873	N	0.999988	B	0.23891	0.093	B	0.29785	0.107	T	0.26292	-1.0107	8	0.54805	T	0.06	.	10.481	0.44693	0.0964:0.0:0.9036:0.0	.	635	A4D1Z6	.	I	634	.	ENSP00000384700:L634I	L	-	1	2	2	PAPOLB	4866065	4866065	1.000000	0.71417	0.455000	0.27031	0.770000	0.43624	5.330000	0.65899	1.398000	0.46701	0.591000	0.81541	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.592439	1	0.170000	NM_020144			29	29		120	117	1		1			0	0	43	0		1	0	0	0	0	0	0	29	120
PAPOLB	56903	broad.mit.edu	37	7	4900560	4900560	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					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)			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)		AATTAAGATTCCGTTCTTCAG	0.443																																						ENST00000404991.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(877-879)cgG>cgA		poly(A) polymerase beta (testis specific)							141.0	137.0	138.0					7																	4900560		2201	4299	6500	SO:0001819	synonymous_variant	56903	0	0					g.chr7:4900560C>T	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.879G>A	chr7.hg19:g.4900560C>T		0					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.R293R	NM_020144.4	NP_064529.4	1	2	3	2.000345	Q9NRJ5	PAPOB_HUMAN		1	1065	-		Ovarian(82;0.0175)	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	1	1	hg19	c.879G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-3.267823	1	0.170000	NM_020144			104	103		479	462	1		1			0	0	110	0		1	0	0	0	0	0	0	104	479
MMD2	221938	broad.mit.edu	37	7	4959909	4959909	+	Silent	SNP	G	G	A	rs149802923	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4959909G>A	ENST00000404774.3	-	3	377	c.183C>T	c.(181-183)gaC>gaT	p.D61D	MMD2_ENST00000401401.3_Silent_p.D61D|MMD2_ENST00000406755.1_Silent_p.D61D	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	61						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCCAGTCATCGTCCGACAGGA	0.617													G|||	13	0.00259585	0.0098	0.0	5008	,	,		17826	0.0		0.0	False		,,,				2504	0.0					ENST00000404774.3	1.000000	0.800000	1	9.900000e-01	0.990000	0.987712	0.990000	1.000000																										0				14						c.(181-183)gaC>gaT		monocyte to macrophage differentiation-associated 2		G	,	21,4211		0,21,2095	53.0	60.0	58.0		183,183	-6.2	0.2	7	dbSNP_134	58	1,8455		0,1,4227	no	coding-synonymous,coding-synonymous	MMD2	NM_001100600.1,NM_198403.3	,	0,22,6322	AA,AG,GG		0.0118,0.4962,0.1734	,	61/271,61/247	4959909	22,12666	2116	4228	6344	SO:0001819	synonymous_variant	221938	89	121038	48				g.chr7:4959909G>A	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.183C>T	chr7.hg19:g.4959909G>A		0					MMD2_ENST00000406755.1_Silent_p.D61D|MMD2_ENST00000401401.3_Silent_p.D61D	p.D61D	NM_001100600.1	NP_001094070.1	1	2	3	2.000345	Q8IY49	PAQRA_HUMAN		3	377	-		Ovarian(82;0.0175)	B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	ENST00000404774.3	1	0	hg19	c.183C>T	CCDS47529.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.824160	1	0.170000	NM_198403			9	8		57	57	1		1			0	0	23	0		9.949712e-01	0	0	0	0	0	0	9	57
WIPI2	26100	broad.mit.edu	37	7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	382					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592																																						ENST00000288828.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000																										0				16						c.(1144-1146)Acc>Gcc		WD repeat domain, phosphoinositide interacting 2							101.0	66.0	78.0					7																	5269261		2203	4300	6503	SO:0001583	missense	26100	0	0					g.chr7:5269261A>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1144A>G	chr7.hg19:g.5269261A>G	ENSP00000288828:p.Thr382Ala	0					WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	p.T382A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	1	2	3	2.000345	Q9Y4P8	WIPI2_HUMAN		12	1376	+		Ovarian(82;0.0175)	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	1	1	hg19	c.1144A>G	CCDS5339.1	1	.	.	.	.	.	.	.	.	.	.	A	1.403	-0.577680	0.03854	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.41400	1.31;1.31;1.33;1.33;1.0	5.77	1.33	0.21861	5.77	1.33	0.21861	.	0.520851	0.21249	N	0.077680	T	0.15998	0.0385	N	0.04508	-0.205	0.21290	N	0.99974	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.28586	-1.0039	10	0.09843	T	0.71	-20.5692	7.0495	0.25065	0.5558:0.0:0.4442:0.0	.	376;364;364;382;382	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	A	382;364;382;364;323;376	ENSP00000288828:T382A;ENSP00000384945:T364A;ENSP00000385297:T382A;ENSP00000371821:T364A;ENSP00000429654:T323A	ENSP00000288828:T382A	T	+	1	0	0	WIPI2	5235787	5235787	0.921000	0.31238	0.110000	0.21437	0.095000	0.18619	1.468000	0.35332	-0.074000	0.12820	-0.232000	0.12228	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_015610			21	21		98	94	1		1	1		0	0	25	0		9.999983e-01	1	0	67	0	310	0	21	98
SLC29A4	222962	broad.mit.edu	37	7	5330411	5330411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.3	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	73					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ATCTACTTTGCGATGCTGCTG	0.592																																						ENST00000396872.3	1.000000	0.110000	4.100000e-01	1.800000e-01	0.270000	0.321189	0.270000	0.250000																										0				20						c.(217-219)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 4	Metformin(DB00331)						109.0	81.0	90.0					7																	5330411		2203	4300	6503	SO:0001583	missense	222962	0	0					g.chr7:5330411C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.218C>T	chr7.hg19:g.5330411C>T	ENSP00000380081:p.Ala73Val	0					SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V	p.A73V			1	2	3	2.000345	Q7RTT9	S29A4_HUMAN		3	379	+		Ovarian(82;0.0175)	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	0	1	hg19	c.218C>T	CCDS5340.1	0	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837993	0.91117	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.09	4.09	0.47781	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.48175	-0.9058	10	0.39692	T	0.17	-21.0558	14.5557	0.68100	0.0:1.0:0.0:0.0	.	73;73	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	73	ENSP00000406803:A73V;ENSP00000380081:A73V;ENSP00000413271:A73V;ENSP00000297195:A73V;ENSP00000385845:A73V	ENSP00000297195:A73V	A	+	2	0	0	SLC29A4	5296937	5296937	1.000000	0.71417	0.945000	0.38365	0.936000	0.57629	7.015000	0.76387	1.834000	0.53371	0.556000	0.70494	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	0	0	1		2	2	2	0		0	0	65		65	61	1	2.060000	-3.427970	1	0.170000	NM_153247			7	7		323	314	0		1	0		0	0	65	0		9.786726e-01	2.981415e-02	0	0	0	11	0	7	323
SLC29A4	222962	broad.mit.edu	37	7	5339001	5339001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	384					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCATCCTGGGCGAGTGGCTGC	0.642																																						ENST00000396872.3	1.000000	0.720000	1	9.000000e-01	0.990000	0.964211	0.990000	1.000000																										0				20						c.(1150-1152)ggC>ggT		solute carrier family 29 (equilibrative nucleoside transporter), member 4	Metformin(DB00331)						60.0	42.0	48.0					7																	5339001		2203	4300	6503	SO:0001819	synonymous_variant	222962	2	121398	29				g.chr7:5339001C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1152C>T	chr7.hg19:g.5339001C>T		0					SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000439491.2_3'UTR	p.G384G			1	2	3	2.000345	Q7RTT9	S29A4_HUMAN		9	1313	+		Ovarian(82;0.0175)	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	1	1	hg19	c.1152C>T	CCDS5340.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_153247			22	18		214	205	0		1	0		0	0	43	0		9.999982e-01	5.515122e-01	0	0	0	19	0	22	214
SLC29A4	222962	broad.mit.edu	37	7	5340232	5340232	+	Silent	SNP	C	C	T	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ACGGCTACTTCGGCAGCGTGC	0.682																																						ENST00000396872.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1387-1389)ttC>ttT		solute carrier family 29 (equilibrative nucleoside transporter), member 4	Metformin(DB00331)	C	,	6,4400		0,6,2197	80.0	75.0	77.0		1389,1389	-3.6	1.0	7	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	463/531,463/531	5340232	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	222962	8	121402	44				g.chr7:5340232C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1389C>T	chr7.hg19:g.5340232C>T		0					SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000439491.2_3'UTR	p.F463F			1	2	3	2.000345	Q7RTT9	S29A4_HUMAN		10	1550	+		Ovarian(82;0.0175)	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	1	1	hg19	c.1389C>T	CCDS5340.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	1	0	1		2	2	2	0		0	0	137		137	133	1	2.060000	-20.000000	1	0.170000	NM_153247			149	143		597	579	0		1	0		0	0	137	0		1	8.307362e-01	0	0	0	15	0	149	597
TNRC18	84629	broad.mit.edu	37	7	5352415	5352415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	ENST00000430969.1	-	27	8455	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2703S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2703							chromatin binding (GO:0003682)			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)		TGCTTGGTGGCCTTGGTGGGG	0.741																																						ENST00000430969.1	1.000000	0.710000	1	9.600000e-01	0.990000	0.972951	0.990000	1.000000																										0				11						c.(8107-8109)Gcc>Tcc		trinucleotide repeat containing 18							5.0	7.0	6.0					7																	5352415		1478	3416	4894	SO:0001583	missense	84629	0	0					g.chr7:5352415C>A	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.8107G>T	chr7.hg19:g.5352415C>A	ENSP00000395538:p.Ala2703Ser	0					TNRC18_ENST00000399537.4_Missense_Mutation_p.A2703S	p.A2703S	NM_001080495.2	NP_001073964.2	1	2	3	2.000345	O15417	TNC18_HUMAN		27	8455	-		Ovarian(82;0.142)	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	0	1	hg19	c.8107G>T	CCDS47534.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.540|4.540	0.100286|0.100286	0.08731|0.08731	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.05996|.	3.36;3.36|.	4.54|4.54	2.4|2.4	0.29515|0.29515	4.54|4.54	2.4|2.4	0.29515|0.29515	.|.	.|0.426630	.|0.17361	.|N	.|0.177035	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.11421|0.11421	-1.0588|-1.0588	9|6	0.07644|.	T|.	0.81|.	.|.	7.7328|7.7328	0.28796|0.28796	0.1402:0.56:0.2999:0.0|0.1402:0.56:0.2999:0.0	.|.	2703|.	O15417|.	TNC18_HUMAN|.	S|S	2703|1215	ENSP00000382452:A2703S;ENSP00000395538:A2703S|.	ENSP00000382452:A2703S|.	A|R	-|-	1|3	0|2	0|2	TNRC18|TNRC18	5318941|5318941	5318941|5318941	0.019000|0.019000	0.18553|0.18553	0.491000|0.491000	0.27477|0.27477	0.111000|0.111000	0.19643|0.19643	0.547000|0.547000	0.23299|0.23299	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	GCC|AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	9		9	10	1	2.060000	-19.221690	1	0.170000				12	11		100	94	0		1	1		0	0	9	0		9.989500e-01	1.064631e-01	0	3	0	2	0	12	100
TNRC18	84629	broad.mit.edu	37	7	5401540	5401540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	ENST00000430969.1	-	13	4868	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1507H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1507							chromatin binding (GO:0003682)			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)		GGAGTCCCGGCGGCGCTGCAG	0.726																																						ENST00000430969.1	1.000000	0.670000	1	9.900000e-01	0.990000	0.974627	0.990000	1.000000																										0				11						c.(4519-4521)cGc>cAc		trinucleotide repeat containing 18							7.0	9.0	8.0					7																	5401540		1958	4122	6080	SO:0001583	missense	84629	3	119114	30				g.chr7:5401540C>T	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.4520G>A	chr7.hg19:g.5401540C>T	ENSP00000395538:p.Arg1507His	0					TNRC18_ENST00000399537.4_Missense_Mutation_p.R1507H	p.R1507H	NM_001080495.2	NP_001073964.2	1	2	3	2.000345	O15417	TNC18_HUMAN		13	4868	-		Ovarian(82;0.142)	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	0	1	hg19	c.4520G>A	CCDS47534.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736967	0.89482	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.28069	2.05;2.04;1.63	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.181348	0.27782	N	0.017880	T	0.59280	0.2182	M	0.77820	2.39	0.50632	D	0.999887	D	0.89917	1.0	D	0.74023	0.982	T	0.63075	-0.6718	10	0.72032	D	0.01	.	19.1717	0.93580	0.0:1.0:0.0:0.0	.	1507	O15417	TNC18_HUMAN	H	1507;1507;562;40	ENSP00000382452:R1507H;ENSP00000395538:R1507H;ENSP00000395990:R40H	ENSP00000382452:R1507H	R	-	2	0	0	TNRC18	5368066	5368066	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	2.896000	0.48656	2.541000	0.85698	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.059600	1	0.170000				6	6		38	37	0		1	1		0	0	9	0		9.662884e-01	9.997664e-01	0	19	0	120	0	6	38
TNRC18	84629	broad.mit.edu	37	7	5430201	5430201	+	Silent	SNP	C	C	T	rs376442503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000430969.1	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000399537.4_Silent_p.E134E	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	134							chromatin binding (GO:0003682)			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)		TGCTGGGGGGCTCCAGGTGGT	0.607																																						ENST00000430969.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999562	0.990000	1.000000																										0				11						c.(400-402)gaG>gaA		trinucleotide repeat containing 18		C		0,3696		0,0,1848	18.0	23.0	21.0		402	1.4	1.0	7		21	1,8161		0,1,4080	no	coding-synonymous	TNRC18	NM_001080495.2		0,1,5928	TT,TC,CC		0.0123,0.0,0.0084		134/2969	5430201	1,11857	1848	4081	5929	SO:0001819	synonymous_variant	84629	4	120760	34				g.chr7:5430201C>T	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.402G>A	chr7.hg19:g.5430201C>T		0					TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000399537.4_Silent_p.E134E	p.E134E	NM_001080495.2	NP_001073964.2	1	2	3	2.000345	O15417	TNC18_HUMAN		4	750	-		Ovarian(82;0.142)	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	1	1	hg19	c.402G>A	CCDS47534.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				20	20		110	106	0		1	1		0	0	28	0		9.999963e-01	9.998002e-01	0	17	0	64	0	20	110
FBXL18	80028	broad.mit.edu	37	7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632																																						ENST00000382368.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									FBXL18/RNF216(2)	0				21						c.(2032-2034)Gtc>Atc		F-box and leucine-rich repeat protein 18							73.0	83.0	80.0					7																	5521531		2056	4180	6236	SO:0001583	missense	80028	2	120990	31				g.chr7:5521531C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2032G>A	chr7.hg19:g.5521531C>T	ENSP00000371805:p.Val678Ile	0					AC092171.4_ENST00000444210.2_lincRNA	p.V678I	NM_024963.4	NP_079239.3	1	2	3	2.000345	Q96ME1	FXL18_HUMAN		5	2155	-		Ovarian(82;0.0607)	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	1	1	hg19	c.2032G>A	CCDS43546.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918844|3.918844	0.73098|0.73098	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368	.|T	.|0.52295	.|0.67	4.83|4.83	3.95|3.95	0.45737|0.45737	4.83|4.83	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.41743|0.41743	0.1172|0.1172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.46110	.|0.504	T|T	0.19811|0.19811	-1.0294|-1.0294	5|8	0.87932|0.32370	D|T	0|0.25	.|.	8.5691|8.5691	0.33558|0.33558	0.0:0.7655:0.1521:0.0824|0.0:0.7655:0.1521:0.0824	.|.	.|678	.|Q96ME1-4	.|.	H|I	237|678	.|ENSP00000371805:V678I	ENSP00000297035:R237H|ENSP00000371805:V678I	R|V	-|-	2|1	0|0	0|0	FBXL18|FBXL18	5488057|5488057	5488057|5488057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.845000|0.845000	0.48019|0.48019	3.693000|3.693000	0.54735|0.54735	1.167000|1.167000	0.42706|0.42706	-0.294000|-0.294000	0.09567|0.09567	CGT|GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-20.000000	1	0.170000	NM_024963			109	107		556	546	1		1	1		0	0	109	0		1	6.951056e-01	0	6	0	8	0	109	556
FBXL18	80028	broad.mit.edu	37	7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741																																						ENST00000382368.3	1.000000	0.680000	1	9.100000e-01	0.990000	0.963667	0.990000	1.000000																									FBXL18/RNF216(2)	0				21						c.(1294-1296)Gcc>Acc		F-box and leucine-rich repeat protein 18							7.0	10.0	9.0					7																	5540606		2069	3972	6041	SO:0001583	missense	80028	1	116028	21				g.chr7:5540606C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1294G>A	chr7.hg19:g.5540606C>T	ENSP00000371805:p.Ala432Thr	0					FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	p.A432T	NM_024963.4	NP_079239.3	1	2	3	2.000345	Q96ME1	FXL18_HUMAN		3	1417	-		Ovarian(82;0.0607)	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	0	1	hg19	c.1294G>A	CCDS43546.1	1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139483	0.01728	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.42900	0.98;0.96	5.36	2.33	0.28932	5.36	2.33	0.28932	.	0.664063	0.15998	N	0.234441	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.13470	T	0.59	.	3.1383	0.06447	0.1271:0.5114:0.1824:0.1791	.	432;432	F5H4Z4;Q96ME1-4	.;.	T	432	ENSP00000371805:A432T;ENSP00000444797:A432T	ENSP00000311990:A432T	A	-	1	0	0	FBXL18	5507132	5507132	.	.	0.030000	0.17652	0.010000	0.07245	.	.	0.631000	0.30412	0.585000	0.79938	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	1	0	1		2	2	2	0		0	0	11		11	10	1	2.060000	-19.852370	1	0.170000	NM_024963			13	13		117	112	0		1			0	0	11	0		9.995142e-01	0	0	0	0	0	0	13	117
ACTB	60	broad.mit.edu	37	7	5568999	5568999	+	Silent	SNP	G	G	T	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	52					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612																																						ENST00000331789.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				8						c.(154-156)tcC>tcA		actin, beta							68.0	72.0	71.0					7																	5568999		2203	4300	6503	SO:0001819	synonymous_variant	60	0	0					g.chr7:5568999G>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.156C>A	chr7.hg19:g.5568999G>T		0					ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	p.S52S	NM_001101.3	NP_001092.1	1	2	3	2.000345	P63261	ACTG_HUMAN		3	347	-		Ovarian(82;0.0606)	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	1	1	hg19	c.156C>A	CCDS5341.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-3.075757	1	0.170000	NM_001101			81	79		537	527	1		1	1		0	0	132	0		1	1	0	1881	0	5821	0	81	537
RNF216	54476	broad.mit.edu	37	7	5754711	5754711	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					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)		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)		CTGCCTCTTGGGCATATCTGA	0.458																																						ENST00000425013.2	1.000000	0.390000	6.600000e-01	4.600000e-01	0.540000	0.577225	0.540000	0.540000																									FBXL18/RNF216(2)	0				33						c.(1633-1635)gcC>gcA		ring finger protein 216							168.0	154.0	159.0					7																	5754711		2203	4300	6503	SO:0001819	synonymous_variant	54476	0	0					g.chr7:5754711G>T	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.1635C>A	chr7.hg19:g.5754711G>T		0					RNF216_ENST00000389902.3_Silent_p.A602A	p.A545A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	1	2	3	2.000345	Q9NWF9	RN216_HUMAN		11	1859	-		Ovarian(82;0.07)	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	1	1	hg19	c.1635C>A	CCDS34595.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	1	0	1		2	2	2	0		0	0	194		194	193	1	2.060000	-3.063635	1	0.170000	NM_207111			38	38		791	775	0		1	1		0	0	194	0		1	9.402609e-01	0	8	0	91	0	38	791
PMS2	5395	broad.mit.edu	37	7	6017315	6017315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000265849.7	-	14	2454	c.2349C>T	c.(2347-2349)gtC>gtT	p.V783V	PMS2_ENST00000406569.3_Missense_Mutation_p.S570L|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	783					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999788	0.990000	1.000000			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	7p22	5395	Mis, N, F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian, medulloblastoma, glioma			0				46						c.(2347-2349)gtC>gtT	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							94.0	75.0	81.0					7																	6017315		2195	4284	6479	SO:0001819	synonymous_variant	5395	3	121014	36	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr7:6017315G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2349C>T	chr7.hg19:g.6017315G>A		0					PMS2_ENST00000406569.3_Missense_Mutation_p.S570L|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	p.V783V	NM_000535.5	NP_000526	1	2	3	2.000345	P54278	PMS2_HUMAN		14	2454	-		Ovarian(82;0.0694)	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	1	1	hg19	c.2349C>T	CCDS5343.1	1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608084	0.28623	.	.	ENSG00000122512	ENST00000406569	D	0.85861	-2.04	5.75	-1.52	0.08637	5.75	-1.52	0.08637	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.80722	D	1	B	0.26708	0.157	B	0.19391	0.025	T	0.63686	-0.6581	8	0.30078	T	0.28	-7.0862	16.6672	0.85256	0.0:0.0:0.5913:0.4087	.	570	P54278-3	.	L	570	ENSP00000384308:S570L	ENSP00000384308:S570L	S	-	2	0	0	PMS2	5983841	5983841	0.905000	0.30787	0.984000	0.44739	0.615000	0.37417	-0.059000	0.11731	-0.473000	0.06871	-0.442000	0.05670	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	0	0		2	2	2	0		0	0	102		102	107	1	2.060000	-19.999960	1	0.170000	NM_000535			70	68		543	512	0		1	1	1	0	0	102	123		1	8.432016e-01	9.999995e-01	4	22	24	139	70	543
PMS2	5395	broad.mit.edu	37	7	6026722	6026722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6026722G>A	ENST00000265849.7	-	11	1779	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000406569.3_Silent_p.T558T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	558					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACATCCGGTATCTTCCT	0.448			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7	1.000000	0.270000	4.700000e-01	3.200000e-01	0.380000	0.421905	0.380000	0.370000			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	7p22	5395	Mis, N, F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian, medulloblastoma, glioma			0				46						c.(1672-1674)acC>acT	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							115.0	123.0	120.0					7																	6026722		2203	4300	6503	SO:0001819	synonymous_variant	5395	0	0		Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr7:6026722G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1674C>T	chr7.hg19:g.6026722G>A		0					PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.T452T	p.T558T	NM_000535.5	NP_000526	1	2	3	2.000345	P54278	PMS2_HUMAN		11	1779	-		Ovarian(82;0.0694)	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	1	1	hg19	c.1674C>T	CCDS5343.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	0	1		2	2	6	0		0	0	199		199	199	1	2.060000	-2.238203	0	0.170000	NM_000535			37	39		1116	1092	0		1	0	1	0	1	199	1134		1	3.192818e-01	1	1	28	34	1227	37	1116
PMS2	5395	broad.mit.edu	37	7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	rs112902065	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	427					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	4	0.000798722	0.003	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					ENST00000265849.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	7p22	5395	Mis, N, F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian, medulloblastoma, glioma			0				46						c.(1279-1281)cGt>cAt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							52.0	51.0	51.0					7																	6027116		2203	4299	6502	SO:0001583	missense	5395	6	121408	38	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr7:6027116C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1280G>A	chr7.hg19:g.6027116C>T	ENSP00000265849:p.Arg427His	0					PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H	p.R427H	NM_000535.5	NP_000526	1	2	3	2.000345	P54278	PMS2_HUMAN		11	1385	-		Ovarian(82;0.0694)	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	0	1	hg19	c.1280G>A	CCDS5343.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	10.57	1.386024	0.25031	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85955	1.0;1.0;-2.05	5.84	-1.11	0.09840	5.84	-1.11	0.09840	.	0.746320	0.13341	N	0.395124	T	0.55609	0.1931	N	0.01874	-0.695	0.25367	N	0.988733	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.46345	-0.9198	10	0.27785	T	0.31	-1.5374	12.7236	0.57156	0.0:0.2476:0.0:0.7524	.	427;427;321	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	H	427;380;321;427	ENSP00000265849:R427H;ENSP00000392843:R321H;ENSP00000384308:R427H	ENSP00000265849:R427H	R	-	2	0	0	PMS2	5993642	5993642	0.096000	0.21769	0.045000	0.18777	0.360000	0.29518	0.248000	0.18198	-0.419000	0.07439	-0.827000	0.03088	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	1		2	2	10	0		0	0	38		38	49	1	2.060000	-20.000000	1	0.170000	NM_000535			40	36		214	197	0		1	1	1	0	3	38	245		1	8.430202e-01	9.999996e-01	4	47	16	218	40	214
PMS2	5395	broad.mit.edu	37	7	6035166	6035166	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195T|PMS2_ENST00000406569.3_Splice_Site_p.K301T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	7p22	5395	Mis, N, F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian, medulloblastoma, glioma			0				46						c.(901-903)aAg>aCg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							82.0	78.0	80.0					7																	6035166		2203	4300	6503	SO:0001630	splice_region_variant	5395	0	0		Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr7:6035166T>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.903+1A>C	chr7.hg19:g.6035166T>G		0					PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site_p.K301T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195T	p.K301T	NM_000535.5	NP_000526	1	2	3	2.000345	P54278	PMS2_HUMAN		8	1007	-		Ovarian(82;0.0694)	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	1	0	hg19	c.902A>C	CCDS5343.1	1	.	.	.	.	.	.	.	.	.	.	t	19.36	3.813482	0.70912	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.72	5.72	0.89469	5.72	5.72	0.89469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.91129	0.7207	M	0.84082	2.675	0.80722	D	1	P;D;P	0.57899	0.715;0.981;0.88	P;P;P	0.60068	0.47;0.868;0.603	D	0.89580	0.3820	10	0.20519	T	0.43	-21.4466	16.0509	0.80763	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	301;254;195;301	ENSP00000265849:K301T;ENSP00000392843:K195T;ENSP00000384308:K301T	ENSP00000265849:K301T	K	-	2	0	0	PMS2	6001692	6001692	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.957000	0.70323	2.188000	0.69820	0.456000	0.33151	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_000535	Missense_Mutation		60	60		266	263	1		1	1	1	0	0	61	732		1	9.616434e-01	1	5	145	21	608	60	266
PMS2	5395	broad.mit.edu	37	7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000441476.2_5'Flank|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	38					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	7p22	5395	Mis, N, F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian, medulloblastoma, glioma			0				46						c.(112-114)gCg>gTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		G	VAL/ALA	1,2741		0,1,1370	298.0	362.0	338.0		113	5.7	0.9	7	dbSNP_134	338	0,4664		0,0,2332	no	missense	PMS2	NM_000535.5	64	0,1,3702	AA,AG,GG		0.0,0.0365,0.0135	probably-damaging	38/863	6045573	1,7405	1371	2332	3703	SO:0001583	missense	5395	3	116940	42	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	g.chr7:6045573G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.113C>T	chr7.hg19:g.6045573G>A	ENSP00000265849:p.Ala38Val	0					Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000441476.2_5'Flank	p.A38V	NM_000535.5	NP_000526	1	2	3	2.000345	P54278	PMS2_HUMAN		2	218	-		Ovarian(82;0.0694)	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	1	1	hg19	c.113C>T	CCDS5343.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.440113	0.96168	3.65E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97378	-4.36;-4.36;-4.36	5.67	5.67	0.87782	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71656	0.974;0.55;0.966	D	0.95682	0.8733	10	0.22109	T	0.4	.	19.7586	0.96304	0.0:0.0:1.0:0.0	.	38;38;38	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	38	ENSP00000265849:A38V;ENSP00000371758:A38V;ENSP00000384308:A38V	ENSP00000265849:A38V	A	-	2	0	0	PMS2	6012099	6012099	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	9.367000	0.97148	2.663000	0.90544	0.585000	0.79938	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	1		16	2	2	0		0	1	348		348	347	1	2.060000	-20.000000	1	0.170000	NM_000535			311	297		1262	1230	1		1	0	1	0	0	348	990		1	9.858616e-01	1	1	194	28	841	311	1262
USP42	84132	broad.mit.edu	37	7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1236	Lys-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463																																						ENST00000306177.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999855	0.990000	1.000000																										0				35						c.(3706-3708)aaG>aaT		ubiquitin specific peptidase 42							34.0	35.0	34.0					7																	6196451		2002	4206	6208	SO:0001583	missense	84132	0	0					g.chr7:6196451G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3708G>T	chr7.hg19:g.6196451G>T	ENSP00000301962:p.Lys1236Asn	0						p.K1236N	NM_032172.2	NP_115548.1	1	2	3	2.000345	Q9H9J4	UBP42_HUMAN		16	3866	+		Ovarian(82;0.0423)	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	1	1	hg19	c.3708G>T	CCDS47535.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749452	0.69533	.	.	ENSG00000106346	ENST00000306177	T	0.37584	1.19	5.77	3.95	0.45737	5.77	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.45458	0.1343	L	0.34521	1.04	0.30744	N	0.745851	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.48502	-0.9030	10	0.87932	D	0	.	8.7888	0.34837	0.242:0.0:0.758:0.0	.	1132;1236;1236	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	N	1236	ENSP00000301962:K1236N	ENSP00000301962:K1236N	K	+	3	2	2	USP42	6162976	6162976	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.228000	0.32588	0.783000	0.33636	-0.157000	0.13467	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-4.027115	1	0.170000	XM_166526			22	21		113	108	1		1	1		0	0	33	0		9.999989e-01	9.908900e-01	0	18	0	24	0	22	113
CYTH3	9265	broad.mit.edu	37	7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612																																						ENST00000350796.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(889-891)gAa>gCa		cytohesin 3							77.0	74.0	75.0					7																	6205375		2203	4300	6503	SO:0001583	missense	9265	0	0					g.chr7:6205375T>G	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.890A>C	chr7.hg19:g.6205375T>G	ENSP00000297044:p.Glu297Ala	0					CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	p.E297A	NM_004227.3	NP_004218.1	1	2	3	2.000345	O43739	CYH3_HUMAN		10	1026	-			A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	1	1	hg19	c.890A>C	CCDS5346.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.068314	0.93950	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.77098	-1.07;-1.07	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.75085	2.285	0.80722	D	1	P;B	0.43477	0.808;0.323	P;B	0.53689	0.732;0.183	D	0.86719	0.1941	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	212;297	B7Z2V9;O43739-2	.;.	A	297;212	ENSP00000297044:E297A;ENSP00000379967:E212A	ENSP00000297044:E297A	E	-	2	0	0	CYTH3	6171900	6171900	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.945000	0.87732	2.057000	0.61298	0.459000	0.35465	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_004227			56	55		269	266	1		1	1		0	0	56	0		1	1	0	21	0	121	0	56	269
DAGLB	221955	broad.mit.edu	37	7	6452623	6452623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000297056.6	-	12	1639	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C|DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	490					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)			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)		TCCCCAGGACGAGTGACACGA	0.557																																						ENST00000297056.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999638	0.990000	1.000000																										0				26						c.(1468-1470)ctC>ctT		diacylglycerol lipase, beta							62.0	59.0	60.0					7																	6452623		2203	4300	6503	SO:0001819	synonymous_variant	221955	4	121408	35				g.chr7:6452623G>A	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.1470C>T	chr7.hg19:g.6452623G>A		0					DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C	p.L490L	NM_139179.3	NP_631918.3	1	2	3	2.000345	Q8NCG7	DGLB_HUMAN		12	1639	-		Ovarian(82;0.232)	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	1	1	hg19	c.1470C>T	CCDS5350.1	1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147856	0.09134	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-10.3	0.00346	5.52	-10.3	0.00346	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54569	-0.8274	5	0.45353	T	0.12	-12.9094	1.8816	0.03229	0.3096:0.1713:0.3495:0.1696	.	.	.	.	C	350	.	ENSP00000416046:R350C	R	-	1	0	0	DAGLB	6419148	6419148	0.010000	0.17322	0.002000	0.10522	0.011000	0.07611	-0.855000	0.04295	-1.904000	0.01092	-2.120000	0.00349	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_139179			21	21		116	115	0		1	1		0	0	37	0		9.999985e-01	9.934981e-01	0	11	0	37	0	21	116
DAGLB	221955	broad.mit.edu	37	7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000297056.6	-	4	677	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	170					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)			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)		AGGTGGCTGGGGCCGGCAGAG	0.498																																						ENST00000297056.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(508-510)Ccc>Acc		diacylglycerol lipase, beta							103.0	102.0	102.0					7																	6474563		2203	4300	6503	SO:0001583	missense	221955	0	0					g.chr7:6474563G>T	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.508C>A	chr7.hg19:g.6474563G>T	ENSP00000297056:p.Pro170Thr	0					DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T	p.P170T	NM_139179.3	NP_631918.3	1	2	3	2.000345	Q8NCG7	DGLB_HUMAN		4	677	-		Ovarian(82;0.232)	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	1	1	hg19	c.508C>A	CCDS5350.1	1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230268	0.09969	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.41758	0.99;1.0	5.26	4.3	0.51218	5.26	4.3	0.51218	.	0.299368	0.33895	N	0.004445	T	0.26011	0.0634	L	0.33485	1.01	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12430	T	0.62	.	6.8558	0.24040	0.0795:0.1094:0.6567:0.1545	.	170	Q8NCG7	DGLB_HUMAN	T	170;129;170;43	ENSP00000297056:P170T;ENSP00000404785:P129T	ENSP00000297056:P170T	P	-	1	0	0	DAGLB	6441088	6441088	0.299000	0.24426	0.079000	0.20413	0.977000	0.68977	0.768000	0.26590	2.443000	0.82685	0.591000	0.81541	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_139179			119	115		531	520	1		1	1		0	0	128	0		1	9.984777e-01	0	13	0	32	0	119	531
DAGLB	221955	broad.mit.edu	37	7	6485682	6485682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000297056.6	-	2	318	c.149C>A	c.(148-150)gCt>gAt	p.A50D	KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	50					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)			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)		GGCTCCACCAGCACAGTCCAG	0.473																																						ENST00000297056.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(148-150)gCt>gAt		diacylglycerol lipase, beta							124.0	103.0	110.0					7																	6485682		2203	4300	6503	SO:0001583	missense	221955	0	0					g.chr7:6485682G>T	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.149C>A	chr7.hg19:g.6485682G>T	ENSP00000297056:p.Ala50Asp	0					DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000479922.2_5'UTR|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame	p.A50D	NM_139179.3	NP_631918.3	1	2	3	2.000345	Q8NCG7	DGLB_HUMAN		2	318	-		Ovarian(82;0.232)	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	1	0	hg19	c.149C>A	CCDS5350.1	1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560885	0.13498	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.42900	1.0;0.96;0.99	4.43	3.52	0.40303	4.43	3.52	0.40303	.	0.773939	0.12173	N	0.492814	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.21245	-1.0251	10	0.11794	T	0.64	-7.8396	5.8177	0.18506	0.1701:0.0:0.666:0.1639	.	50;50	B4DQU0;Q8NCG7	.;DGLB_HUMAN	D	50;50;9;50;50	ENSP00000297056:A50D;ENSP00000391171:A50D;ENSP00000404785:A9D	ENSP00000297056:A50D	A	-	2	0	0	DAGLB	6452207	6452207	0.109000	0.22037	0.351000	0.25721	0.398000	0.30690	1.387000	0.34430	2.191000	0.70037	0.485000	0.47835	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_139179			92	87		315	310	1		1	1		0	0	86	0		1	9.999999e-01	0	15	0	66	0	92	315
KDELR2	11014	broad.mit.edu	37	7	6523680	6523680	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000258739.4	-	1	193	c.9T>G	c.(7-9)atT>atG	p.I3M	KDELR2_ENST00000463747.1_5'UTR|FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|DAGLB_ENST00000436575.1_De_novo_Start_OutOfFrame	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	3					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)			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)		TCAGCCGGAAAATGTTCATgg	0.726																																						ENST00000258739.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999699	0.990000	1.000000																										0				10						c.(7-9)atT>atG		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							10.0	12.0	11.0					7																	6523680		2184	4274	6458	SO:0001583	missense	11014	1	119300	23				g.chr7:6523680A>C	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.9T>G	chr7.hg19:g.6523680A>C	ENSP00000258739:p.Ile3Met	0					DAGLB_ENST00000436575.1_De_novo_Start_OutOfFrame|FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M	p.I3M	NM_006854.3	NP_006845.1	1	2	3	2.000345	P33947	ERD22_HUMAN		1	193	-		Ovarian(82;0.0776)	A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	1	0	hg19	c.9T>G	CCDS5351.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002241	0.74932	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.49139	0.79	5.12	3.28	0.37604	5.12	3.28	0.37604	.	0.048586	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95982	3.75	0.58432	D	0.999999	D;B	0.53619	0.961;0.268	P;B	0.60473	0.875;0.318	T	0.77078	-0.2721	10	0.72032	D	0.01	-16.5231	9.7979	0.40746	0.074:0.0:0.7871:0.1389	.	3;3	P33947-2;P33947	.;ERD22_HUMAN	M	3	ENSP00000258739:I3M	ENSP00000258739:I3M	I	-	3	3	3	KDELR2	6490205	6490205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.576000	0.23744	0.531000	0.28639	-0.253000	0.11424	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000				15	15		64	62	0		1	1		0	0	14	0		9.999111e-01	1	0	84	0	267	0	15	64
ZDHHC4	55146	broad.mit.edu	37	7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	289						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			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)		ACTACTAACGAGTGGTACAGA	0.582																																						ENST00000396706.2	1.000000	0.450000	7.800000e-01	5.400000e-01	0.640000	0.666385	0.640000	0.630000																										0				19						c.(865-867)gAg>gGg		zinc finger, DHHC-type containing 4							133.0	121.0	125.0					7																	6628372		2203	4300	6503	SO:0001583	missense	55146	0	0					g.chr7:6628372A>G	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.866A>G	chr7.hg19:g.6628372A>G	ENSP00000379934:p.Glu289Gly	0					ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|C7orf26_ENST00000359073.5_5'Flank|AC079742.4_ENST00000434951.1_RNA	p.E289G			1	2	3	2.000345	Q9NPG8	ZDHC4_HUMAN		8	1309	+		Ovarian(82;0.232)	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	1	1	hg19	c.866A>G	CCDS5352.1	0	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176650	0.78564	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83001	-0.0177	10	0.87932	D	0	-23.2176	12.751	0.57308	1.0:0.0:0.0:0.0	.	289	Q9NPG8	ZDHC4_HUMAN	G	289	ENSP00000385027:E289G;ENSP00000379941:E289G;ENSP00000379935:E289G;ENSP00000337475:E289G;ENSP00000379937:E289G;ENSP00000379934:E289G	ENSP00000337475:E289G	E	+	2	0	0	ZDHHC4	6594897	6594897	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	9.011000	0.93618	1.954000	0.56735	0.533000	0.62120	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_018106			35	34		617	597	1		1	1		0	0	127	0		1	9.999874e-01	0	29	0	268	0	35	617
ZNF12	7559	broad.mit.edu	37	7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	625					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)			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)		GAATGAATTCGATGATGTATA	0.413																																						ENST00000405858.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1873-1875)Cga>Tga		zinc finger protein 12							81.0	87.0	85.0					7																	6730700		2199	4300	6499	SO:0001587	stop_gained	7559	0	0					g.chr7:6730700G>A	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.1873C>T	chr7.hg19:g.6730700G>A	ENSP00000385939:p.Arg625*	0					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|AC073343.2_ENST00000577401.1_RNA	p.R625*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	1	2	3	2.000345	P17014	ZNF12_HUMAN		5	2414	-		Ovarian(82;0.0776)	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	ENST00000405858.1	0	0	hg19	c.1873C>T	CCDS47538.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.845057	0.99277	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	4.17	1.09	0.20402	4.17	1.09	0.20402	.	0.000000	0.33327	N	0.005033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7017	0.51575	0.0:0.0:0.3034:0.6966	.	.	.	.	X	551;625;587;683	.	ENSP00000344745:R587X	R	-	1	2	2	ZNF12	6697225	6697225	0.000000	0.05858	0.995000	0.50966	0.996000	0.88848	-0.696000	0.05104	0.208000	0.20626	-0.188000	0.12872	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-2.962839	1	0.170000	NM_016265			40	38		190	182	1		1	1		0	0	49	0		1	9.988138e-01	0	16	0	36	0	40	190
COL28A1	340267	broad.mit.edu	37	7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	535	Collagen-like 4.				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)			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)		GGGCCTCTTGCTCCCGGAAGC	0.527																																						ENST00000399429.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1603-1605)Gca>Tca		collagen, type XXVIII, alpha 1							79.0	76.0	77.0					7																	7483263		1936	4155	6091	SO:0001583	missense	340267	0	0					g.chr7:7483263C>A	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.1603G>T	chr7.hg19:g.7483263C>A	ENSP00000382356:p.Ala535Ser	0						p.A535S	NM_001037763.2	NP_001032852.2	1	2	3	2.000345	Q2UY09	COSA1_HUMAN		20	1743	-		Ovarian(82;0.0789)	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	1	1	hg19	c.1603G>T	CCDS43553.1	1	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026728	0.08054	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.93	-4.71	0.03279	4.93	-4.71	0.03279	.	1.289190	0.05636	U	0.582550	D	0.82323	0.5012	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.073;0.005;0.192	B;B;B	0.28638	0.055;0.01;0.092	T	0.70880	-0.4752	10	0.10111	T	0.7	0.9378	14.3921	0.66986	0.0:0.7642:0.0:0.2358	.	535;535;535	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	S	535	ENSP00000382356:A535S	ENSP00000382347:A535S	A	-	1	0	0	COL28A1	7449788	7449788	0.000000	0.05858	0.058000	0.19502	0.823000	0.46562	-0.681000	0.05191	-0.885000	0.03971	-0.345000	0.07892	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_001037763			49	49		180	179	1		1	0		0	0	59	0		1	4.758173e-02	0	1	0	1	0	49	180
COL28A1	340267	broad.mit.edu	37	7	7545675	7545675	+	Silent	SNP	G	G	A	rs368151858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	332	Collagen-like 2.				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)			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)		TTGGGCCTGGGTCTCCTGGAG	0.448																																						ENST00000399429.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(994-996)gaC>gaT		collagen, type XXVIII, alpha 1		G		0,3706		0,0,1853	93.0	91.0	92.0		996	-5.9	0.5	7		92	1,8193		0,1,4096	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,5949	AA,AG,GG		0.0122,0.0,0.0084		332/1126	7545675	1,11899	1853	4097	5950	SO:0001819	synonymous_variant	340267	0	0					g.chr7:7545675G>A	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.996C>T	chr7.hg19:g.7545675G>A		0						p.D332D	NM_001037763.2	NP_001032852.2	1	2	3	2.000345	Q2UY09	COSA1_HUMAN		11	1136	-		Ovarian(82;0.0789)	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	1	1	hg19	c.996C>T	CCDS43553.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_001037763			52	52		236	234	1		1	0		0	0	59	0		1	8.896610e-02	0	0	0	3	0	52	236
RPA3	6119	broad.mit.edu	37	7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000401447.1_5'Flank|RPA3_ENST00000406109.1_Intron	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	24					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	ENST00000223129.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(70-72)cCt>cTt	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A3, 14kDa							116.0	106.0	109.0					7																	7679979		2203	4300	6503	SO:0001583	missense	6119	0	0					g.chr7:7679979G>A		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.71C>T	chr7.hg19:g.7679979G>A	ENSP00000223129:p.Pro24Leu	0					RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000401447.1_5'Flank|RPA3_ENST00000406109.1_Intron	p.P24L	NM_002947.3	NP_002938.1	1	2	3	2.000345	P35244	RFA3_HUMAN		5	1242	-		Ovarian(82;0.0607)	Q549U6	Missense_Mutation	SNP	ENST00000223129.4	1	1	hg19	c.71C>T	CCDS5356.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116445	0.77323	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.100829	0.64402	D	0.000001	T	0.75925	0.3916	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69367	-0.5164	9	0.09590	T	0.72	-3.567	17.7854	0.88536	0.0:0.0:1.0:0.0	.	24	P35244	RFA3_HUMAN	L	24	.	ENSP00000223129:P24L	P	-	2	0	0	RPA3	7646504	7646504	1.000000	0.71417	0.938000	0.37757	0.937000	0.57800	3.764000	0.55264	2.808000	0.96608	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2	1	0	1		2	2	2	0		0	0	134		134	129	1	2.060000	-20.000000	1	0.170000	NM_002947			109	108		492	471	1		1	1		0	0	134	0		1	1	0	76	0	142	0	109	492
GLCCI1	113263	broad.mit.edu	37	7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A	rs547798426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	GLCCI1_ENST00000474269.1_3'UTR|RPA3-AS1_ENST00000469183.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	165						cytoplasm (GO:0005737)				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)		CGGACCTCTAGTACAATAAGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.001					ENST00000223145.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(493-495)aGt>aAt		glucocorticoid induced transcript 1							121.0	111.0	114.0					7																	8043574		2203	4300	6503	SO:0001583	missense	113263	1	121412	34				g.chr7:8043574G>A	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.494G>A	chr7.hg19:g.8043574G>A	ENSP00000223145:p.Ser165Asn	0					RPA3-AS1_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	p.S165N	NM_138426.3	NP_612435.1	1	2	3	2.000345	Q86VQ1	GLCI1_HUMAN		2	1051	+		Ovarian(82;0.0608)	A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	1	1	hg19	c.494G>A	CCDS34601.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380708	0.42207	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.74	0.789	0.18607	4.74	0.789	0.18607	.	0.443287	0.25866	N	0.027788	T	0.16428	0.0395	N	0.14661	0.345	0.22354	N	0.999171	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	9	0.22706	T	0.39	-19.5099	5.3351	0.15953	0.3053:0.1403:0.5543:0.0	.	165	Q86VQ1	GLCI1_HUMAN	N	165;53;53	.	ENSP00000223145:S165N	S	+	2	0	0	GLCCI1	8010099	8010099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.488000	0.45276	0.263000	0.21812	0.551000	0.68910	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_138426			65	64		333	328	1		1	0		0	0	105	0		1	7.295291e-01	0	0	0	15	0	65	333
ICA1	3382	broad.mit.edu	37	7	8153658	8153658	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000422063.2_Silent_p.A478A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000265577.7_Silent_p.A448A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	449					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532																																						ENST00000402384.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1345-1347)gcC>gcA		islet cell autoantigen 1, 69kDa							116.0	107.0	110.0					7																	8153658		2203	4300	6503	SO:0001819	synonymous_variant	3382	0	0					g.chr7:8153658G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1347C>A	chr7.hg19:g.8153658G>T		0					ICA1_ENST00000422063.2_Silent_p.A478A|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000265577.7_Silent_p.A448A	p.A449A			1	2	3	2.000345	Q05084	ICA69_HUMAN		14	1613	-		Ovarian(82;0.0612)	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	1	1	hg19	c.1347C>A	CCDS34602.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_004968			89	88		332	327	1		1	1		0	0	80	0		1	1	0	79	0	134	0	89	332
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433																																						ENST00000405863.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(604-606)Gac>Aac		neurexophilin 1							58.0	54.0	55.0					7																	8791187		1879	4109	5988	SO:0001583	missense	30010	0	0					g.chr7:8791187G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.604G>A	chr7.hg19:g.8791187G>A	ENSP00000384551:p.Asp202Asn	0					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	p.D202N	NM_152745.2	NP_689958.1	1	2	3	2.000345	P58417	NXPH1_HUMAN		3	1515	+		Ovarian(82;0.0628)	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	1	1	hg19	c.604G>A	CCDS47540.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	0	NXPH1	8757712	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_152745			34	33		101	99	1		1			0	0	18	0		1	0	0	0	0	0	0	34	101
TSPAN13	27075	broad.mit.edu	37	7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	174						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423																																						ENST00000262067.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(520-522)cTg>cCg		tetraspanin 13							166.0	156.0	160.0					7																	16818722		2203	4300	6503	SO:0001583	missense	27075	0	0					g.chr7:16818722T>C	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.521T>C	chr7.hg19:g.16818722T>C	ENSP00000262067:p.Leu174Pro	0						p.L174P	NM_014399.3	NP_055214.1	1	2	3	2.000345	O95857	TSN13_HUMAN		5	954	+	Lung NSC(10;0.0494)|all_lung(11;0.109)			Missense_Mutation	SNP	ENST00000262067.4	1	1	hg19	c.521T>C	CCDS5363.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957719	0.73902	.	.	ENSG00000106537	ENST00000262067	D	0.82984	-1.67	5.75	4.58	0.56647	5.75	4.58	0.56647	.	0.172861	0.52532	D	0.000066	D	0.90920	0.7146	M	0.86651	2.83	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	D	0.91774	0.5430	10	0.87932	D	0	-10.9269	13.1148	0.59294	0.0:0.0:0.1338:0.8662	.	174	O95857	TSN13_HUMAN	P	174	ENSP00000262067:L174P	ENSP00000262067:L174P	L	+	2	0	0	TSPAN13	16785247	16785247	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.994000	0.88315	0.984000	0.38629	0.459000	0.35465	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_014399			54	54		191	182	1		1	1		0	0	42	0		1	1	0	107	0	240	0	54	191
AGR2	10551	broad.mit.edu	37	7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000401412.1_Missense_Mutation_p.A155T|AGR2_ENST00000419572.2_Missense_Mutation_p.A175T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	155					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448																																						ENST00000419304.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				6						c.(463-465)Gca>Aca		anterior gradient 2							151.0	120.0	131.0					7																	16834575		2203	4300	6503	SO:0001583	missense	10551	0	0					g.chr7:16834575C>T	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.463G>A	chr7.hg19:g.16834575C>T	ENSP00000391490:p.Ala155Thr	0					AGR2_ENST00000419572.2_Missense_Mutation_p.A175T|AGR2_ENST00000401412.1_Missense_Mutation_p.A155T	p.A155T	NM_006408.3	NP_006399.1	1	2	3	2.000345	O95994	AGR2_HUMAN		7	615	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)			Missense_Mutation	SNP	ENST00000419304.2	1	1	hg19	c.463G>A	CCDS5364.1	1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514783	0.27123	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	.	.	.	5.65	0.0928	0.14474	5.65	0.0928	0.14474	.	0.354493	0.28104	N	0.016599	T	0.27384	0.0672	L	0.46157	1.445	0.28199	N	0.927427	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	9	0.35671	T	0.21	-13.2225	2.4542	0.04525	0.4416:0.2555:0.0657:0.2372	.	155	O95994	AGR2_HUMAN	T	155;85;175;155	.	ENSP00000386025:A155T	A	-	1	0	0	AGR2	16801100	16801100	0.444000	0.25649	0.856000	0.33681	0.597000	0.36814	0.228000	0.17814	0.082000	0.17018	-2.055000	0.00403	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.697090	1	0.170000	NM_006408			39	38		212	210	1		1	1		0	0	45	0		1	1	0	308	0	873	0	39	212
SNX13	23161	broad.mit.edu	37	7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	812					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)			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)					AGCTGTTGAAGTAGGTTTTTG	0.363																																						ENST00000409389.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(2434-2436)Ctt>Att		sorting nexin 13							181.0	168.0	172.0					7																	17838675		1841	4083	5924	SO:0001583	missense	23161	0	0					g.chr7:17838675G>T	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.2434C>A	chr7.hg19:g.17838675G>T	ENSP00000386705:p.Leu812Ile	0					SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I	p.L812I			1	2	3	2.000345	Q9Y5W8	SNX13_HUMAN		23	2606	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	1	1	hg19	c.2434C>A		1	.	.	.	.	.	.	.	.	.	.	G	33	5.239787	0.95240	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.35789	1.29;1.29	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.996	D;D;D	0.68943	0.961;0.941;0.929	T	0.58335	-0.7654	10	0.39692	T	0.17	-15.0832	19.8167	0.96571	0.0:0.0:1.0:0.0	.	598;812;801	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	I	812;801;849	ENSP00000386705:L812I;ENSP00000398789:L801I	ENSP00000242044:L849I	L	-	1	0	0	SNX13	17805200	17805200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.330000	0.96422	2.679000	0.91253	0.563000	0.77884	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_015132			55	55		274	265	1		1	1		0	0	91	0		1	9.998617e-01	0	14	0	54	0	55	274
SNX13	23161	broad.mit.edu	37	7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	769					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)			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)					GCCGAAACTCGGCGATGTTCA	0.338																																						ENST00000409389.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999671	0.990000	1.000000																										0				38						c.(2305-2307)Cga>Tga		sorting nexin 13							71.0	65.0	67.0					7																	17841237		1844	4085	5929	SO:0001587	stop_gained	23161	0	0					g.chr7:17841237G>A	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.2305C>T	chr7.hg19:g.17841237G>A	ENSP00000386705:p.Arg769*	0					SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*	p.R769*			1	2	3	2.000345	Q9Y5W8	SNX13_HUMAN		22	2477	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	0	1	hg19	c.2305C>T		1	.	.	.	.	.	.	.	.	.	.	G	41	8.625400	0.98890	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	6.06	5.19	0.71726	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.7544	15.5809	0.76439	0.066:0.0:0.934:0.0	.	.	.	.	X	769;758;806	.	ENSP00000242044:R806X	R	-	1	2	2	SNX13	17807762	17807762	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.808000	0.75206	1.574000	0.49760	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-3.389607	1	0.170000	NM_015132			15	14		65	64	1		1	1		0	0	23	0		9.999106e-01	9.998657e-01	0	5	0	69	0	15	65
SNX13	23161	broad.mit.edu	37	7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	464	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)			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)					TTTTGCTACTAAATAGTCATC	0.299																																						ENST00000409389.1	1.000000	0.730000	1	9.600000e-01	0.990000	0.974243	0.990000	1.000000																										0				38						c.(1390-1392)tTa>tCa		sorting nexin 13							52.0	51.0	51.0					7																	17874457		1807	4054	5861	SO:0001583	missense	23161	1	120610	25				g.chr7:17874457A>G	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.1391T>C	chr7.hg19:g.17874457A>G	ENSP00000386705:p.Leu464Ser	0					SNX13_ENST00000428135.3_Missense_Mutation_p.L464S	p.L464S			1	2	3	2.000345	Q9Y5W8	SNX13_HUMAN		14	1563	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	1	1	hg19	c.1391T>C		1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.200319	0.38905	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02446	4.29;4.29	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.143577	0.49305	D	0.000153	T	0.02767	0.0083	N	0.11427	0.14	0.80722	D	1	B;P;P	0.41498	0.247;0.752;0.576	B;B;B	0.42625	0.098;0.393;0.119	T	0.65672	-0.6111	10	0.42905	T	0.14	-7.5475	15.076	0.72077	1.0:0.0:0.0:0.0	.	261;464;464	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	464;464;512	ENSP00000386705:L464S;ENSP00000398789:L464S	ENSP00000242044:L512S	L	-	2	0	0	SNX13	17840982	17840982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.026000	0.59711	0.402000	0.26972	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.997180	1	0.170000	NM_015132			15	15		130	128	1		1	1		0	0	33	0		9.998900e-01	9.377188e-01	0	2	0	42	0	15	130
SNX13	23161	broad.mit.edu	37	7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	165	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			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)					TGTGTGCCAAAGTCATCTACA	0.313																																						ENST00000409389.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999382	0.990000	1.000000																										0				38						c.(493-495)Ttt>Gtt		sorting nexin 13							140.0	123.0	128.0					7																	17915361		1829	4084	5913	SO:0001583	missense	23161	0	0					g.chr7:17915361A>C	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.493T>G	chr7.hg19:g.17915361A>C	ENSP00000386705:p.Phe165Val	0					SNX13_ENST00000428135.3_Missense_Mutation_p.F165V	p.F165V			1	2	3	2.000345	Q9Y5W8	SNX13_HUMAN		6	665	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	1	1	hg19	c.493T>G		1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080667	0.55753	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.5	5.5	0.81552	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.52905	1.665	0.80722	D	1	P;B;P	0.37207	0.587;0.437;0.459	B;B;B	0.42319	0.383;0.349;0.264	T	0.02026	-1.1227	10	0.05620	T	0.96	-15.2192	15.6101	0.76710	1.0:0.0:0.0:0.0	.	165;165;165	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	165;165;213	ENSP00000386705:F165V;ENSP00000398789:F165V	ENSP00000242044:F213V	F	-	1	0	0	SNX13	17881886	17881886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.472000	0.90407	2.074000	0.62210	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_015132			17	17		89	87	1		1	1		0	0	25	0		9.999733e-01	9.933038e-01	0	11	0	36	0	17	89
PRPS1L1	221823	broad.mit.edu	37	7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	251					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458																																						ENST00000506618.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(751-753)gGa>gTa		phosphoribosyl pyrophosphate synthetase 1-like 1							103.0	103.0	103.0					7																	18066654		2200	4300	6500	SO:0001583	missense	221823	0	0					g.chr7:18066654C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.752G>T	chr7.hg19:g.18066654C>A	ENSP00000424595:p.Gly251Val	0						p.G251V	NM_175886.2	NP_787082	1	2	3	2.000345	P21108	PRPS3_HUMAN		1	832	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	1	1	hg19	c.752G>T	CCDS47552.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757981	0.49468	.	.	ENSG00000229937	ENST00000506618	D	0.82893	-1.66	4.44	4.44	0.53790	4.44	4.44	0.53790	.	.	.	.	.	D	0.94696	0.8289	H	0.98754	4.32	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.96343	0.9252	8	0.66056	D	0.02	.	14.9557	0.71110	0.0:1.0:0.0:0.0	.	251	P21108	PRPS3_HUMAN	V	251	ENSP00000424595:G251V	ENSP00000424595:G251V	G	-	2	0	0	PRPS1L1	18033179	18033179	1.000000	0.71417	0.845000	0.33349	0.246000	0.25737	7.115000	0.77110	2.482000	0.83794	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_175886			83	81		406	400	1		1			0	0	94	0		1	0	0	0	0	0	0	83	406
PRPS1L1	221823	broad.mit.edu	37	7	18067034	18067034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	124					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468																																						ENST00000506618.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(370-372)atC>atT		phosphoribosyl pyrophosphate synthetase 1-like 1							146.0	144.0	145.0					7																	18067034		2203	4300	6503	SO:0001819	synonymous_variant	221823	0	0					g.chr7:18067034G>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.372C>T	chr7.hg19:g.18067034G>A		0						p.I124I	NM_175886.2	NP_787082	1	2	3	2.000345	P21108	PRPS3_HUMAN		1	452	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Q6P5P6	Silent	SNP	ENST00000506618.2	1	1	hg19	c.372C>T	CCDS47552.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	0	0	1		21	2	2	1		1	1	101		101	98	1	2.060000	-20.000000	1	0.170000	NM_175886			125	122		510	502	1		1			1	0	101	0		1	0	0	0	0	0	0	125	510
HDAC9	9734	broad.mit.edu	37	7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000432645.2	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	116					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)			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)	ACAGGAAGTAGAGAGGCATCG	0.483																																						ENST00000432645.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				82						c.(346-348)Gag>Aag		histone deacetylase 9	Valproic Acid(DB00313)						70.0	74.0	73.0					7																	18630049		2063	4219	6282	SO:0001583	missense	9734	0	0					g.chr7:18630049G>A	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.346G>A	chr7.hg19:g.18630049G>A	ENSP00000410337:p.Glu116Lys	0					HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K	p.E116K	NM_058176.2	NP_478056.1	1	2	3	2.000345	Q9UKV0	HDAC9_HUMAN		3	346	+	all_lung(11;0.187)		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	1	1	hg19	c.346G>A	CCDS47555.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.814642	0.96982	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.54;0.44;0.54;0.62;0.11;0.6;0.49;-0.01;0.11;0.08;0.44;0.6;0.63	5.75	5.75	0.90469	5.75	5.75	0.90469	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000007	T	0.79287	0.4420	M	0.68317	2.08	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.623;0.997;0.997;0.996;0.996;0.999;0.999;0.996;0.998;0.997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.85130	0.994;0.996;0.99;0.739;0.994;0.992;0.99;0.99;0.997;0.995;0.99;0.994;0.994	T	0.78912	-0.2017	10	0.56958	D	0.05	-16.8947	19.9433	0.97172	0.0:0.0:1.0:0.0	.	85;88;116;147;158;119;119;119;116;88;116;116;138	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	158;161;119;119;116;116;116;147;119;116;119;85;88;85;116	ENSP00000401669:E158K;ENSP00000412497:E119K;ENSP00000392564:E119K;ENSP00000384382:E116K;ENSP00000384657:E116K;ENSP00000395655:E116K;ENSP00000384017:E147K;ENSP00000383912:E119K;ENSP00000410337:E116K;ENSP00000408617:E119K;ENSP00000404763:E85K;ENSP00000388568:E88K;ENSP00000430036:E85K	ENSP00000262069:E161K	E	+	1	0	0	HDAC9	18596574	18596574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	2.716000	0.92895	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000				18	18		48	48	1		1	1		0	0	18	0		9.999940e-01	9.851381e-01	0	4	0	18	0	18	48
HDAC9	9734	broad.mit.edu	37	7	18631230	18631230	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000432645.2	+	4	498	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000401921.1_Silent_p.N169N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	166					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)			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)	ATGGAAAAAATCATTCCGTGA	0.448																																						ENST00000432645.2	1.000000	0.490000	1	6.600000e-01	0.880000	0.848308	0.880000	1.000000																										0				82						c.(496-498)aaT>aaC		histone deacetylase 9	Valproic Acid(DB00313)						84.0	85.0	85.0					7																	18631230		1954	4153	6107	SO:0001819	synonymous_variant	9734	9	120862	39				g.chr7:18631230T>C	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.498T>C	chr7.hg19:g.18631230T>C		0					HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N	p.N166N	NM_058176.2	NP_478056.1	1	2	3	2.000345	Q9UKV0	HDAC9_HUMAN		4	498	+	all_lung(11;0.187)		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	1	1	hg19	c.498T>C	CCDS47555.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-17.918400	1	0.170000				13	13		167	162	0		1	0		0	0	37	0		9.995130e-01	4.027915e-01	0	1	0	17	0	13	167
HDAC9	9734	broad.mit.edu	37	7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000432645.2	+	9	1129	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	377					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)			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)	GGCATCTTCCAGCCACCCTCA	0.502																																						ENST00000432645.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998577	0.990000	1.000000																										0				82						c.(1129-1131)Agc>Ggc		histone deacetylase 9	Valproic Acid(DB00313)						39.0	41.0	40.0					7																	18687510		2066	4215	6281	SO:0001583	missense	9734	0	0					g.chr7:18687510A>G	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.1129A>G	chr7.hg19:g.18687510A>G	ENSP00000410337:p.Ser377Gly	0					HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G	p.S377G	NM_058176.2	NP_478056.1	1	2	3	2.000345	Q9UKV0	HDAC9_HUMAN		9	1129	+	all_lung(11;0.187)		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	1	1	hg19	c.1129A>G	CCDS47555.1	1	.	.	.	.	.	.	.	.	.	.	A	4.986	0.183198	0.09495	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.95;0.97;0.38;0.96;0.96;0.37;0.37;0.38;0.96;0.96	5.64	3.28	0.37604	5.64	3.28	0.37604	.	0.269718	0.32640	N	0.005823	T	0.30198	0.0757	N	0.16656	0.425	0.23386	N	0.997783	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;0.0;0.002;0.001;0.0;0.0;0.001;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.0;0.002;0.0;0.002;0.001;0.0;0.0;0.001;0.001;0.001	T	0.11966	-1.0566	10	0.20519	T	0.43	-15.7169	6.3135	0.21178	0.7234:0.1346:0.142:0.0	.	300;349;377;364;375;377;380;336;380;377;349;377;377;355	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	375;378;377;377;333;364;336;377;380;349;300;377	ENSP00000401669:S375G;ENSP00000384382:S377G;ENSP00000384657:S377G;ENSP00000395655:S333G;ENSP00000384017:S364G;ENSP00000383912:S336G;ENSP00000410337:S377G;ENSP00000408617:S380G;ENSP00000388568:S349G;ENSP00000430036:S300G	ENSP00000262069:S378G	S	+	1	0	0	HDAC9	18654035	18654035	0.128000	0.22383	0.970000	0.41538	0.081000	0.17604	0.574000	0.23714	0.963000	0.38082	0.477000	0.44152	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				16	16		91	89	1		1	0		0	0	20	0		9.999501e-01	7.173913e-01	0	0	0	16	0	16	91
HDAC9	9734	broad.mit.edu	37	7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000432645.2	+	14	2144	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000406451.4_Missense_Mutation_p.R715M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	715	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)	CTGGACCCCAGGATACTCCTA	0.507																																						ENST00000432645.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				82						c.(2143-2145)aGg>aTg		histone deacetylase 9	Valproic Acid(DB00313)						53.0	54.0	53.0					7																	18801889		1956	4143	6099	SO:0001583	missense	9734	0	0					g.chr7:18801889G>T	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.2144G>T	chr7.hg19:g.18801889G>T	ENSP00000410337:p.Arg715Met	0					HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M|HDAC9_ENST00000406451.4_Missense_Mutation_p.R715M	p.R715M	NM_058176.2	NP_478056.1	1	2	3	2.000345	Q9UKV0	HDAC9_HUMAN		14	2144	+	all_lung(11;0.187)		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	1	1	hg19	c.2144G>T	CCDS47555.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796699	0.70567	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.56	5.56	0.83823	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.076195	0.56097	D	0.000031	T	0.72326	0.3446	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P;P	0.47191	0.63;0.891;0.891;0.801;0.891;0.801	B;P;P;P;P;P	0.53988	0.205;0.621;0.621;0.739;0.621;0.628	T	0.72357	-0.4318	10	0.51188	T	0.08	-18.5514	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	715;674;718;715;715;693	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	M	715;674;715;718;627	ENSP00000384657:R715M;ENSP00000383912:R674M;ENSP00000410337:R715M;ENSP00000408617:R718M	ENSP00000339165:R627M	R	+	2	0	0	HDAC9	18768414	18768414	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.175000	0.58263	2.776000	0.95493	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000				25	25		109	108	1		1			0	0	40	0		9.999999e-01	0	0	0	0	0	0	25	109
TWISTNB	221830	broad.mit.edu	37	7	19744544	19744544	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1		MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor						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)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368																																						ENST00000222567.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				20						c.e2-1		TWIST neighbor							66.0	67.0	67.0					7																	19744544		2203	4300	6503	SO:0001630	splice_region_variant	221830	0	0					g.chr7:19744544C>T	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.255-1G>A	chr7.hg19:g.19744544C>T		0					MIR3146_ENST00000580367.1_RNA		NM_001002926.1	NP_001002926.1	1	2	3	2.000345	Q3B726	RPA43_HUMAN		2	325	-			A0PJ45|B7Z724	Splice_Site	SNP	ENST00000222567.5	1	1	hg19		CCDS34606.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533348	0.45073	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.62	4.62	0.57501	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TWISTNB	19711069	19711069	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.716000	0.74702	2.531000	0.85337	0.655000	0.94253	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-19.998650	1	0.170000		Intron		42	41		207	204	1		1			0	0	73	0		1	0	0	0	0	0	0	42	207
TWISTNB	221830	broad.mit.edu	37	7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	30					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)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222567.5	1.000000	0.420000	9.700000e-01	5.600000e-01	0.730000	0.749203	0.730000	1.000000																										0				20						c.(88-90)Gag>Tag		TWIST neighbor							39.0	34.0	36.0					7																	19748552		2203	4299	6502	SO:0001587	stop_gained	221830	0	0					g.chr7:19748552C>A	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.88G>T	chr7.hg19:g.19748552C>A	ENSP00000222567:p.Glu30*	0		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.E30*	NM_001002926.1	NP_001002926.1	1	2	3	2.000345	Q3B726	RPA43_HUMAN		1	158	-			A0PJ45|B7Z724	Nonsense_Mutation	SNP	ENST00000222567.5	0	1	hg19	c.88G>T	CCDS34606.1	0	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695929	0.68386	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.07	0.26955	4.06	2.07	0.26955	.	0.257680	0.31636	N	0.007320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.8129	9.31	0.37898	0.0:0.6893:0.2205:0.0901	.	.	.	.	X	30	.	ENSP00000222567:E30X	E	-	1	0	0	TWISTNB	19715077	19715077	0.720000	0.27996	0.579000	0.28588	0.173000	0.22820	2.198000	0.42705	1.046000	0.40249	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-18.343260	1	0.170000				15	13		233	228	0		1	0		0	0	56	0		9.998586e-01	1.337039e-01	0	0	0	10	0	15	233
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498																																						ENST00000405764.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(379-381)cGa>cAa		transmembrane protein 196							85.0	75.0	79.0					7																	19765216		2203	4300	6503	SO:0001583	missense	256130	0	0					g.chr7:19765216C>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.380G>A	chr7.hg19:g.19765216C>T	ENSP00000384234:p.Arg127Gln	0					TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q	p.R127Q	NM_152774.3	NP_689987.3	1	2	3	2.000345	Q5HYL7	TM196_HUMAN		3	1076	-			Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	1	1	hg19	c.380G>A	CCDS34607.2	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	0	TMEM196	19731741	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_152774			135	133		203	202	1		1	0		0	0	64	0		1	1.597640e-01	0	0	0	2	0	135	203
MACC1	346389	broad.mit.edu	37	7	20199174	20199174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	270					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)				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						CCAACAACGGGCTCACAGTGC	0.478																																						ENST00000400331.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(808-810)agC>agT		metastasis associated in colon cancer 1							88.0	82.0	84.0					7																	20199174		2203	4300	6503	SO:0001819	synonymous_variant	346389	0	0					g.chr7:20199174G>A		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.810C>T	chr7.hg19:g.20199174G>A		0					MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	p.S270S	NM_182762.3	NP_877439.3	1	2	3	2.000345	Q6ZN28	MACC1_HUMAN		5	1118	-			A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	1	1	hg19	c.810C>T	CCDS5369.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_182762			56	54		238	234	1		1	0		0	0	68	0		1	3.760579e-02	0	1	0	1	0	56	238
ITGB8	3696	broad.mit.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	144					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)			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						TCCTCTGAAGAAATATCCTGT	0.308																																						ENST00000222573.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(430-432)Aaa>Gaa		integrin, beta 8							70.0	81.0	77.0					7																	20418715		2193	4298	6491	SO:0001583	missense	3696	0	0					g.chr7:20418715A>G		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.430A>G	chr7.hg19:g.20418715A>G	ENSP00000222573:p.Lys144Glu	0					SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	p.K144E	NM_002214.2	NP_002205.1	1	2	3	2.000345	P26012	ITB8_HUMAN		4	1114	+			A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	1	1	hg19	c.430A>G	CCDS5370.1	1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785427	0.49997	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.91996	-2.95;-2.95	5.42	4.25	0.50352	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	D	0.000011	D	0.85423	0.5693	N	0.17082	0.46	0.36197	D	0.850466	B;B	0.27286	0.034;0.174	B;B	0.29942	0.068;0.109	D	0.83988	0.0336	10	0.41790	T	0.15	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	E	9;144	ENSP00000441561:K9E;ENSP00000222573:K144E	ENSP00000222573:K144E	K	+	1	0	0	ITGB8	20385240	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_002214			80	80		306	304	1		1	1		0	0	74	0		1	7.447836e-01	0	4	0	8	0	80	306
ITGB8	3696	broad.mit.edu	37	7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	164	VWFA.				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)			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						CAATAATATAGAAAAATTAAA	0.343																																						ENST00000222573.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(490-492)Gaa>Aaa		integrin, beta 8							75.0	82.0	80.0					7																	20418775		2203	4300	6503	SO:0001583	missense	3696	0	0					g.chr7:20418775G>A		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.490G>A	chr7.hg19:g.20418775G>A	ENSP00000222573:p.Glu164Lys	0					SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	p.E164K	NM_002214.2	NP_002205.1	1	2	3	2.000345	P26012	ITB8_HUMAN		4	1174	+			A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	1	1	hg19	c.490G>A	CCDS5370.1	1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924418	0.73213	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	5.82	5.82	0.92795	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.071807	0.64402	D	0.000019	D	0.97851	0.9294	L	0.45698	1.435	0.38694	D	0.952837	D;D	0.63046	0.992;0.984	P;P	0.60886	0.88;0.761	D	0.98122	1.0426	10	0.37606	T	0.19	-27.1312	20.0956	0.97842	0.0:0.0:1.0:0.0	.	164;164	P26012;Q9BUG9	ITB8_HUMAN;.	K	29;164	ENSP00000441561:E29K;ENSP00000222573:E164K	ENSP00000222573:E164K	E	+	1	0	0	ITGB8	20385300	20385300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.746000	0.94184	0.650000	0.86243	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	0		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_002214			49	49		250	248	1		1	1		0	0	63	0		1	6.559135e-01	0	5	0	8	0	49	250
ITGB8	3696	broad.mit.edu	37	7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	243	VWFA.				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)			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						CAGTTCATAGACAGAAGATCT	0.443																																						ENST00000222573.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.989872	0.990000	1.000000																										0				37						c.(727-729)agA>agC		integrin, beta 8							137.0	124.0	128.0					7																	20420382		2203	4300	6503	SO:0001583	missense	3696	0	0					g.chr7:20420382A>C		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.729A>C	chr7.hg19:g.20420382A>C	ENSP00000222573:p.Arg243Ser	0					ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	p.R243S	NM_002214.2	NP_002205.1	1	2	3	2.000345	P26012	ITB8_HUMAN		5	1413	+			A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	1	1	hg19	c.729A>C	CCDS5370.1	1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667596	0.47677	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97620	-4.46;-4.46	6.07	4.92	0.64577	6.07	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.069216	0.64402	D	0.000010	D	0.92698	0.7679	L	0.28608	0.87	0.38344	D	0.944144	B;B	0.09022	0.001;0.002	B;B	0.12156	0.006;0.007	D	0.88415	0.3024	10	0.62326	D	0.03	.	5.2764	0.15651	0.7337:0.0:0.1326:0.1337	.	243;243	P26012;Q9BUG9	ITB8_HUMAN;.	S	108;243	ENSP00000441561:R108S;ENSP00000222573:R243S	ENSP00000222573:R243S	R	+	3	2	2	ITGB8	20386907	20386907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.664000	0.37439	1.103000	0.41568	-0.301000	0.09380	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_002214			42	41		382	377	0		1	1		0	0	97	0		1	6.823983e-01	0	4	0	19	0	42	382
ABCB5	340273	broad.mit.edu	37	7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			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						TTCGAAAACAGTTTTTTCATT	0.408																																						ENST00000404938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(424-426)caG>caT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							97.0	85.0	89.0					7																	20682918		1568	3582	5150	SO:0001583	missense	340273	0	0					g.chr7:20682918G>T	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.426G>T	chr7.hg19:g.20682918G>T	ENSP00000384881:p.Gln142His	0						p.Q142H	NM_001163941.1	NP_001157413.1	1	2	3	2.000345	Q2M3G0	ABCB5_HUMAN		6	1078	+			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	1	1	hg19	c.426G>T	CCDS55090.1	1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291353	0.05568	.	.	ENSG00000004846	ENST00000404938	D	0.90004	-2.6	3.75	2.67	0.31697	3.75	2.67	0.31697	.	.	.	.	.	T	0.73001	0.3531	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.59904	-0.7366	9	0.14252	T	0.57	.	3.2368	0.06767	0.174:0.0:0.5888:0.2372	.	142	A7BKA4	.	H	142	ENSP00000384881:Q142H	ENSP00000384881:Q142H	Q	+	3	2	2	ABCB5	20649443	20649443	0.173000	0.23056	1.000000	0.80357	0.452000	0.32318	0.437000	0.21543	0.917000	0.36895	0.563000	0.77884	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-19.976700	1	0.170000	NM_178559			36	35		159	154	1		1			0	0	32	0		1	0	0	0	0	0	0	36	159
ABCB5	340273	broad.mit.edu	37	7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A	rs372132207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	149	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			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						TCAGTTTTGGCACAGGACATC	0.408																																						ENST00000404938.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999858	0.990000	1.000000																										0				77						c.(445-447)gCa>gAa		ATP-binding cassette, sub-family B (MDR/TAP), member 5							92.0	84.0	86.0					7																	20682938		1568	3582	5150	SO:0001583	missense	340273	0	0					g.chr7:20682938C>A	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.446C>A	chr7.hg19:g.20682938C>A	ENSP00000384881:p.Ala149Glu	0						p.A149E	NM_001163941.1	NP_001157413.1	1	2	3	2.000345	Q2M3G0	ABCB5_HUMAN		6	1098	+			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	1	1	hg19	c.446C>A	CCDS55090.1	1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441668	0.25900	.	.	ENSG00000004846	ENST00000404938	D	0.88509	-2.39	3.75	3.75	0.43078	3.75	3.75	0.43078	.	.	.	.	.	D	0.85217	0.5646	L	0.43152	1.355	0.80722	D	1	P	0.36171	0.541	B	0.36608	0.229	D	0.87183	0.2229	9	0.87932	D	0	.	13.867	0.63594	0.0:1.0:0.0:0.0	.	149	A7BKA4	.	E	149	ENSP00000384881:A149E	ENSP00000384881:A149E	A	+	2	0	0	ABCB5	20649463	20649463	0.898000	0.30612	0.873000	0.34254	0.154000	0.21943	1.722000	0.38042	2.398000	0.81561	0.563000	0.77884	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	0		2	2	2	0		0	0	40		40	39	1	2.060000	-15.955340	1	0.170000	NM_178559			32	32		196	188	1		1			0	0	40	0		1	0	0	0	0	0	0	32	196
ABCB5	340273	broad.mit.edu	37	7	20683249	20683249	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	224	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			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						CGGCAGCATGTTCTAGGGTAA	0.443																																						ENST00000404938.2	1.000000	0.700000	1	8.900000e-01	0.990000	0.959706	0.990000	1.000000																										0				77						c.(670-672)tgT>tgC		ATP-binding cassette, sub-family B (MDR/TAP), member 5							82.0	70.0	74.0					7																	20683249		1568	3582	5150	SO:0001819	synonymous_variant	340273	0	0					g.chr7:20683249T>C	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.672T>C	chr7.hg19:g.20683249T>C		0						p.C224C	NM_001163941.1	NP_001157413.1	1	2	3	2.000345	Q2M3G0	ABCB5_HUMAN		7	1324	+			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	0	1	hg19	c.672T>C	CCDS55090.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-8.655276	1	0.170000	NM_178559			19	19		185	181	0		1			0	0	18	0		9.999914e-01	0	0	0	0	0	0	19	185
ABCB5	340273	broad.mit.edu	37	7	20795190	20795190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1239	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)			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						CTCATCAAGAGCTCCTGAGAA	0.413																																						ENST00000404938.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(3715-3717)gaG>gaA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							103.0	97.0	99.0					7																	20795190		2203	4300	6503	SO:0001819	synonymous_variant	340273	0	0					g.chr7:20795190G>A	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.3717G>A	chr7.hg19:g.20795190G>A		0					ABCB5_ENST00000258738.6_Silent_p.E794E	p.E1239E	NM_001163941.1	NP_001157413.1	1	2	3	2.000345	Q2M3G0	ABCB5_HUMAN		28	4369	+			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	1	1	hg19	c.3717G>A	CCDS55090.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_178559			51	51		213	211	1		1			0	0	51	0		1	0	0	0	0	0	0	51	213
SP4	6671	broad.mit.edu	37	7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	655					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373																																						ENST00000222584.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1963-1965)gGt>gAt		Sp4 transcription factor							147.0	144.0	145.0					7																	21521598		2203	4300	6503	SO:0001583	missense	6671	0	0					g.chr7:21521598G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1964G>A	chr7.hg19:g.21521598G>A	ENSP00000222584:p.Gly655Asp	0						p.G655D	NM_003112.3	NP_003103.2	1	2	3	2.000345	Q02446	SP4_HUMAN		5	2182	+			O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	1	1	hg19	c.1964G>A	CCDS5373.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.316989	0.95682	.	.	ENSG00000105866	ENST00000222584	T	0.49139	0.79	5.47	5.47	0.80525	5.47	5.47	0.80525	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	0.69540	0.3122	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	T	0.73707	-0.3898	10	0.72032	D	0.01	.	19.3343	0.94309	0.0:0.0:1.0:0.0	.	655	Q02446	SP4_HUMAN	D	655	ENSP00000222584:G655D	ENSP00000222584:G655D	G	+	2	0	0	SP4	21488123	21488123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	1	0	1		2	2	2	0		0	0	88		88	87	1	2.060000	-20.000000	1	0.170000	NM_003112			96	92		475	469	1		1	1		0	0	88	0		1	8.292093e-01	0	2	0	16	0	96	475
DNAH11	8701	broad.mit.edu	37	7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000409508.3	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	764	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)			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						TGGAAATCTTGACCTTCTTGT	0.383									Kartagener syndrome																													ENST00000409508.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				230						c.(2290-2292)Gac>Aac		dynein, axonemal, heavy chain 11							34.0	35.0	34.0					7																	21630818		1829	4081	5910	SO:0001583	missense	8701	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr7:21630818G>A	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.2290G>A	chr7.hg19:g.21630818G>A	ENSP00000475939:p.Asp764Asn	0					DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	p.D764N	NM_001277115.1	NP_001264044.1	1	2	3	2.000345	Q96DT5	DYH11_HUMAN		14	2321	+			Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	1	1	hg19	c.2290G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000105877	ENST00000328843	T	0.54479	0.57	5.57	5.57	0.84162	5.57	5.57	0.84162	Dynein heavy chain, domain-1 (1);	0.949886	0.08876	N	0.880782	T	0.43144	0.1234	.	.	.	0.25084	N	0.990906	B	0.10296	0.003	B	0.08055	0.003	T	0.19386	-1.0307	9	0.19147	T	0.46	.	18.3291	0.90262	0.0:0.0:1.0:0.0	.	764	Q96DT5	DYH11_HUMAN	N	764	ENSP00000330671:D764N	ENSP00000330671:D764N	D	+	1	0	0	DNAH11	21597343	21597343	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	4.301000	0.59086	2.618000	0.88619	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003777			34	33		179	175	1		1			0	0	33	0		1	0	0	0	0	0	0	34	179
DNAH11	8701	broad.mit.edu	37	7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A	rs371880343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000409508.3	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1062	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)			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						TGTGTCTTCCGATGAAATGGA	0.433									Kartagener syndrome																													ENST00000409508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				230						c.(3184-3186)Gat>Aat		dynein, axonemal, heavy chain 11							148.0	140.0	143.0					7																	21640477		1923	4140	6063	SO:0001583	missense	8701	10	120848	45	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr7:21640477G>A	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.3184G>A	chr7.hg19:g.21640477G>A	ENSP00000475939:p.Asp1062Asn	0					DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	p.D1062N	NM_001277115.1	NP_001264044.1	1	2	3	2.000345	Q96DT5	DYH11_HUMAN		16	3215	+			Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	1	1	hg19	c.3184G>A		1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212545	0.39102	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.116822	0.56097	D	0.000036	T	0.17408	0.0418	.	.	.	0.49130	D	0.99975	P	0.36483	0.555	B	0.27500	0.08	T	0.02546	-1.1143	9	0.37606	T	0.19	.	18.013	0.89230	0.0:0.0:1.0:0.0	.	1062	Q96DT5	DYH11_HUMAN	N	1062	ENSP00000330671:D1062N	ENSP00000330671:D1062N	D	+	1	0	0	DNAH11	21607002	21607002	1.000000	0.71417	0.929000	0.37066	0.038000	0.13279	3.454000	0.52986	2.563000	0.86464	0.563000	0.77884	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_003777			133	132		539	533	1		1	0		0	0	136	0		1	0	0	0	0	1	0	133	539
DNAH11	8701	broad.mit.edu	37	7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	rs72657321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000409508.3	+	25	4469	c.4438C>T	c.(4438-4440)Cga>Tga	p.R1480*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1485	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)			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						AGTTCACTATCGAACAGGCAT	0.308									Kartagener syndrome																													ENST00000409508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				230						c.(4438-4440)Cga>Tga		dynein, axonemal, heavy chain 11							84.0	79.0	80.0					7																	21659634		1812	4073	5885	SO:0001587	stop_gained	8701	1	120772	30	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr7:21659634C>T	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.4438C>T	chr7.hg19:g.21659634C>T	ENSP00000475939:p.Arg1480*	0					DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*	p.R1480*	NM_001277115.1	NP_001264044.1	1	2	3	2.000345	Q96DT5	DYH11_HUMAN		25	4469	+			Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	0	1	hg19	c.4438C>T		1	.	.	.	.	.	.	.	.	.	.	C	45	11.304859	0.99544	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	3.49	0.39957	5.47	3.49	0.39957	.	0.552784	0.17274	N	0.180253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9568	0.41671	0.4061:0.4847:0.1092:0.0	.	.	.	.	X	1485	.	ENSP00000330671:R1485X	R	+	1	2	2	DNAH11	21626159	21626159	0.089000	0.21612	1.000000	0.80357	0.935000	0.57460	0.459000	0.21908	1.231000	0.43661	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.138910	1	0.170000	NM_003777			42	40		204	201	1		1			0	0	54	0		1	0	0	0	0	0	0	42	204
DNAH11	8701	broad.mit.edu	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000409508.3	+	28	4874	c.4843G>A	c.(4843-4845)Gct>Act	p.A1615T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	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)			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						AAAAGCTCTCGCTGAATACCT	0.393									Kartagener syndrome																													ENST00000409508.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				230						c.(4843-4845)Gct>Act		dynein, axonemal, heavy chain 11							163.0	160.0	161.0					7																	21678582		1861	4093	5954	SO:0001583	missense	8701	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr7:21678582G>A	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.4843G>A	chr7.hg19:g.21678582G>A	ENSP00000475939:p.Ala1615Thr	0					DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	p.A1615T	NM_001277115.1	NP_001264044.1	1	2	3	2.000345	Q96DT5	DYH11_HUMAN		28	4874	+			Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	1	1	hg19	c.4843G>A		1	.	.	.	.	.	.	.	.	.	.	G	6.183	0.401934	0.11696	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.78	-1.86	0.07760	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.29093	0.0723	.	.	.	0.24518	N	0.994179	B	0.17038	0.02	B	0.19946	0.027	T	0.24977	-1.0145	9	0.08837	T	0.75	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	T	1620	ENSP00000330671:A1620T	ENSP00000330671:A1620T	A	+	1	0	0	DNAH11	21645107	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000	NM_003777			82	80		384	381	1		1	0		0	0	105	0		1	0	0	0	0	1	0	82	384
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000409508.3	+	55	8971		c.e55-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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.?(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						TGTCTCCACAGATCATTTTGT	0.483									Kartagener syndrome																													ENST00000409508.3	1.000000	0.620000	1	7.200000e-01	0.840000	0.849603	0.840000	1.000000																										1	Unknown(1)	p.?(1)	lung(1)	230						c.e55-1		dynein, axonemal, heavy chain 11							168.0	162.0	164.0					7																	21805045		2022	4203	6225	SO:0001630	splice_region_variant	8701	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr7:21805045G>A	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.8941-1G>A	chr7.hg19:g.21805045G>A		0					DNAH11_ENST00000328843.6_Splice_Site		NM_001277115.1	NP_001264044.1	1	2	3	2.000345	Q96DT5	DYH11_HUMAN		55	8971	+			Q9UJ82	Splice_Site	SNP	ENST00000409508.3	1	1	hg19			0	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911606	0.92178	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DNAH11	21771570	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	1	0	1		2	2	2	0		0	0	127		127	123	1	2.060000	-9.525608	1	0.170000	NM_003777	Intron		43	43		564	547	0		1			0	0	127	0		1	0	0	0	0	0	0	43	564
RAPGEF5	9771	broad.mit.edu	37	7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000401957.2	-	8	1212	c.965C>T	c.(964-966)gCg>gTg	p.A322V	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	322					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468																																						ENST00000401957.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(964-966)gCg>gTg		Rap guanine nucleotide exchange factor (GEF) 5							113.0	112.0	112.0					7																	22190035		1865	4105	5970	SO:0001583	missense	9771	6	120816	40				g.chr7:22190035G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.965C>T	chr7.hg19:g.22190035G>A	ENSP00000384044:p.Ala322Val	0					RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V	p.A322V			1	2	3	2.000345	Q92565	RPGF5_HUMAN		8	1212	-			A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	1	1	hg19	c.965C>T		1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389773	0.25118	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.48836	1.29;0.8	5.86	5.86	0.93980	5.86	5.86	0.93980	Ras guanine nucleotide exchange factor, domain (1);	0.259043	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.31107	N	0.710363	B;P	0.38048	0.001;0.616	B;B	0.24974	0.002;0.057	T	0.11767	-1.0574	10	0.14252	T	0.57	.	17.7179	0.88343	0.0:0.0:1.0:0.0	.	322;472	Q92565;A8MQ07	RPGF5_HUMAN;.	V	472;324;322	ENSP00000343656:A472V;ENSP00000384044:A322V	ENSP00000343656:A472V	A	-	2	0	0	RAPGEF5	22156560	22156560	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.972000	0.49256	2.937000	0.99478	0.650000	0.86243	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-3.260233	1	0.170000	NM_012294			74	68		354	342	1		1	1		0	0	97	0		1	9.999767e-01	0	8	0	68	0	74	354
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000401957.2	-	2	571	c.324G>A	c.(322-324)acG>acA	p.T108T	RAPGEF5_ENST00000344041.6_Silent_p.T258T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	108	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453																																						ENST00000401957.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.997261	0.990000	1.000000																										0				6						c.(322-324)acG>acA		Rap guanine nucleotide exchange factor (GEF) 5							85.0	83.0	84.0					7																	22206738		1941	4155	6096	SO:0001819	synonymous_variant	9771	7	120842	39				g.chr7:22206738C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.324G>A	chr7.hg19:g.22206738C>T		0					RAPGEF5_ENST00000344041.6_Silent_p.T258T	p.T108T			1	2	3	2.000345	Q92565	RPGF5_HUMAN		2	571	-			A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	1	1	hg19	c.324G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.351562	1	0.170000	NM_012294			15	15		91	88	1		1	1		0	0	39	0		9.998918e-01	9.979630e-01	0	10	0	57	0	15	91
RAPGEF5	9771	broad.mit.edu	37	7	22233125	22233125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22233125C>T	ENST00000401957.2	-	1	402	c.155G>A	c.(154-156)cGc>cAc	p.R52H	RAPGEF5_ENST00000405243.1_3'UTR|RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	52					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACTGCGAGCGGCTGCTCCA	0.562																																						ENST00000401957.2	1.000000	0.950000	1	9.900000e-01	0.990000	0.995362	0.990000	1.000000																										0				6						c.(154-156)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 5							36.0	39.0	38.0					7																	22233125		1078	2147	3225	SO:0001583	missense	9771	0	0					g.chr7:22233125C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.155G>A	chr7.hg19:g.22233125C>T	ENSP00000384044:p.Arg52His	0					RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR	p.R52H			1	2	3	2.000345	Q92565	RPGF5_HUMAN		1	402	-			A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	0	1	hg19	c.155G>A		1	.	.	.	.	.	.	.	.	.	.	C	32	5.180529	0.94846	.	.	ENSG00000136237	ENST00000425852;ENST00000258735;ENST00000401957	T	0.59364	0.27	5.85	5.85	0.93711	5.85	5.85	0.93711	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52866	-0.8518	6	0.15952	T	0.53	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	H	52	ENSP00000384044:R52H	ENSP00000258735:R52H	R	-	2	0	0	RAPGEF5	22199650	22199650	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.575000	0.67430	2.767000	0.95098	0.563000	0.77884	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	0	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-14.875790	1	0.170000	NM_012294			6	5		18	17	0		1	0		0	0	11	0		9.629299e-01	1.880342e-01	0	0	0	3	0	6	18
IL6	3569	broad.mit.edu	37	7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q|AC073072.5_ENST00000325042.2_RNA			P05231	IL6_HUMAN	interleukin 6	46					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)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CACAGACAGCCACTCACCTCT	0.572																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(136-138)cCa>cAa		interleukin 6	Ginseng(DB01404)						106.0	102.0	103.0					7																	22767180		2203	4300	6503	SO:0001583	missense	3569	0	0					g.chr7:22767180C>A	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.137C>A	chr7.hg19:g.22767180C>A	ENSP00000385675:p.Pro46Gln	0					IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q	p.P46Q			1	2	3	2.000345	P05231	IL6_HUMAN		3	596	+			Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	1	1	hg19	c.137C>A	CCDS5375.1	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752806	0.31046	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;0.82;1.81;-0.81	5.2	-4.27	0.03744	5.2	-4.27	0.03744	Four-helical cytokine, core (1);	2.471950	0.01105	N	0.005476	T	0.56171	0.1967	N	0.12961	0.28	0.09310	N	1	B;B;B	0.27882	0.192;0.177;0.025	B;B;B	0.29267	0.1;0.053;0.012	T	0.47548	-0.9109	10	0.51188	T	0.08	11.6934	4.7642	0.13123	0.2457:0.2693:0.0:0.485	.	100;46;46	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	46;46;46;100;23;46	ENSP00000385675:P46Q;ENSP00000405150:P46Q;ENSP00000258743:P46Q;ENSP00000405994:P100Q;ENSP00000384928:P23Q;ENSP00000385227:P46Q	ENSP00000258743:P46Q	P	+	2	0	0	IL6	22733705	22733705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.985000	0.03751	-1.066000	0.03164	-0.263000	0.10527	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	1	0	1		2	2	2	0		0	0	115		115	114	1	2.060000	-3.335652	1	0.170000	NM_000600			80	79		398	386	1		1	0		0	0	115	0		1	9.999789e-01	0	0	0	79	0	80	398
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A	rs535306272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308																																						ENST00000258742.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(529-531)tCt>tAt		nucleoporin like 2							82.0	83.0	83.0					7																	23236306		2203	4297	6500	SO:0001583	missense	11097	0	0					g.chr7:23236306C>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.530C>A	chr7.hg19:g.23236306C>A	ENSP00000258742:p.Ser177Tyr	0						p.S177Y	NM_007342.2	NP_031368.1	1	2	3	2.000345	O15504	NUPL2_HUMAN		5	789	+			A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	1	1	hg19	c.530C>A	CCDS5379.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253795	0.59212	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	4.75	0.60458	5.63	4.75	0.60458	.	0.229608	0.45361	D	0.000362	T	0.58293	0.2112	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.55140	-0.8187	10	0.39692	T	0.17	-17.8451	12.7138	0.57103	0.0:0.9202:0.0:0.0798	.	177	O15504	NUPL2_HUMAN	Y	177	ENSP00000258742:S177Y;ENSP00000401475:S177Y	ENSP00000258742:S177Y	S	+	2	0	0	NUPL2	23202831	23202831	0.931000	0.31567	0.957000	0.39632	0.492000	0.33523	1.810000	0.38932	2.641000	0.89580	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.619841	1	0.170000	NM_007342			49	49		198	191	1		1	1		0	0	56	0		1	9.999947e-01	0	14	0	63	0	49	198
GPNMB	10457	broad.mit.edu	37	7	23300346	23300346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23300346G>A	ENST00000381990.2	+	6	1133	c.972G>A	c.(970-972)ccG>ccA	p.P324P	GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000258733.4_Silent_p.P324P|GPNMB_ENST00000453162.2_Silent_p.P266P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	324	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.		P -> L (in dbSNP:rs35363287).		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)			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)			GACCTTGTCCGCCACCGCCAC	0.483																																						ENST00000381990.2	1.000000	0.130000	3.200000e-01	1.800000e-01	0.230000	0.285055	0.230000	0.230000																										0				41						c.(970-972)ccG>ccA		glycoprotein (transmembrane) nmb							121.0	129.0	126.0					7																	23300346		2203	4300	6503	SO:0001819	synonymous_variant	10457	1	121400	32				g.chr7:23300346G>A	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.972G>A	chr7.hg19:g.23300346G>A		0					GPNMB_ENST00000258733.4_Silent_p.P324P|GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000453162.2_Silent_p.P266P	p.P324P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	1	2	3	2.000345	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)	6	1133	+			A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	0	1	hg19	c.972G>A	CCDS34610.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	0	0	1		2	2	2	0		0	0	152		152	152	1	2.060000	-2.041488	0	0.170000	NM_001005340			15	15		758	739	0		1	0		0	0	152	0		9.998439e-01	1	0	0	0	2088	0	15	758
IGF2BP3	10643	broad.mit.edu	37	7	23391009	23391009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	200	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567																																						ENST00000258729.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(598-600)Ctg>Ttg		insulin-like growth factor 2 mRNA binding protein 3							101.0	92.0	95.0					7																	23391009		2203	4300	6503	SO:0001819	synonymous_variant	10643	0	0					g.chr7:23391009G>A	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.598C>T	chr7.hg19:g.23391009G>A		0					IGF2BP3_ENST00000491719.1_5'UTR	p.L200L	NM_006547.2	NP_006538.2	1	2	3	2.000345	O00425	IF2B3_HUMAN		6	954	-			A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	1	1	hg19	c.598C>T	CCDS5382.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	1	0	0		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_006547			65	64		297	293	1		1	1		0	0	76	0		1	9.580364e-01	0	11	0	15	0	65	297
IGF2BP3	10643	broad.mit.edu	37	7	23391064	23391064	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572																																						ENST00000258729.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(541-543)agG>agA		insulin-like growth factor 2 mRNA binding protein 3							55.0	54.0	54.0					7																	23391064		2203	4300	6503	SO:0001819	synonymous_variant	10643	0	0					g.chr7:23391064C>T	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.543G>A	chr7.hg19:g.23391064C>T		0					IGF2BP3_ENST00000491719.1_5'UTR	p.R181R	NM_006547.2	NP_006538.2	1	2	3	2.000345	O00425	IF2B3_HUMAN		6	899	-			A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	1	1	hg19	c.543G>A	CCDS5382.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_006547			50	50		241	237	1		1	1		0	0	61	0		1	8.128720e-01	0	8	0	9	0	50	241
TRA2A	29896	broad.mit.edu	37	7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	94	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(280-282)Cga>Tga		transformer 2 alpha homolog (Drosophila)							83.0	71.0	75.0					7																	23556038		2203	4300	6503	SO:0001587	stop_gained	29896	0	0					g.chr7:23556038G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.280C>T	chr7.hg19:g.23556038G>A	ENSP00000297071:p.Arg94*	0					TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	p.R94*	NM_013293.3	NP_037425.1	1	2	3	2.000345	Q13595	TRA2A_HUMAN		3	496	-			B4DUA9	Nonsense_Mutation	SNP	ENST00000297071.4	0	1	hg19	c.280C>T	CCDS5383.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.468558	0.96274	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	4.0	0.46444	5.88	4.0	0.46444	.	0.058669	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.982	15.5939	0.76562	0.0:0.0:0.7503:0.2497	.	.	.	.	X	94	.	ENSP00000297071:R94X	R	-	1	2	2	TRA2A	23522563	23522563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	1.484000	0.48361	0.460000	0.39030	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_013293			69	66		217	211	1		1	1		0	0	42	0		1	1	0	10	0	149	0	69	217
CCDC126	90693	broad.mit.edu	37	7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000307471.3	+	3	470	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	5					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318																																						ENST00000307471.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(13-15)Atc>Ttc		coiled-coil domain containing 126							73.0	75.0	75.0					7																	23650947		2203	4300	6503	SO:0001583	missense	90693	0	0					g.chr7:23650947A>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.13A>T	chr7.hg19:g.23650947A>T	ENSP00000304355:p.Ile5Phe	0					CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F	p.I5F	NM_138771.3	NP_620126.2	1	2	3	2.000345	Q96EE4	CC126_HUMAN		3	470	+			A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	1	1	hg19	c.13A>T	CCDS5384.1	1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028699	0.19512	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	2.92	0.33932	5.65	2.92	0.33932	.	0.112631	0.64402	D	0.000009	T	0.15219	0.0367	N	0.02315	-0.6	0.37480	D	0.915954	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.02654	T	1	-17.6699	5.3688	0.16129	0.4772:0.118:0.0:0.4048	.	5	Q96EE4	CC126_HUMAN	F	5	.	ENSP00000304355:I5F	I	+	1	0	0	CCDC126	23617472	23617472	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.417000	0.44653	2.150000	0.67090	0.455000	0.32223	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_138771			60	58		270	267	1		1	1		0	0	57	0		1	9.868551e-01	0	4	0	29	0	60	270
STK31	56164	broad.mit.edu	37	7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000428484.1_5'Flank|STK31_ENST00000354639.3_5'Flank|STK31_ENST00000433467.2_Missense_Mutation_p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	10						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567																																						ENST00000355870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(28-30)Gct>Tct		serine/threonine kinase 31							213.0	172.0	186.0					7																	23749932		2203	4300	6503	SO:0001583	missense	56164	0	0					g.chr7:23749932G>T	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.28G>T	chr7.hg19:g.23749932G>T	ENSP00000348132:p.Ala10Ser	0					STK31_ENST00000354639.3_5'Flank|STK31_ENST00000428484.1_5'Flank|STK31_ENST00000433467.2_Missense_Mutation_p.A10S	p.A10S	NM_031414.4	NP_113602.2	1	2	3	2.000345	Q9BXU1	STK31_HUMAN		1	147	+			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	1	1	hg19	c.28G>T	CCDS5386.1	1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022901	0.02061	.	.	ENSG00000196335	ENST00000355870;ENST00000433467	T;T	0.67698	-0.28;1.44	3.92	-0.115	0.13560	3.92	-0.115	0.13560	.	1.139810	0.06538	N	0.742708	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.043;0.075	B;B	0.19946	0.018;0.027	T	0.34502	-0.9826	10	0.51188	T	0.08	0.3504	6.2791	0.20997	0.5233:0.0:0.4767:0.0	.	10;10	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	10	ENSP00000348132:A10S;ENSP00000411852:A10S	ENSP00000348132:A10S	A	+	1	0	0	STK31	23716457	23716457	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.020000	0.12525	-0.036000	0.13669	-0.266000	0.10368	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_031414			73	72		284	280	1		1			0	0	40	0		1	0	0	0	0	0	0	73	284
STK31	56164	broad.mit.edu	37	7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000355870.3	+	7	711	c.592G>A	c.(592-594)Gat>Aat	p.D198N	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D175N|STK31_ENST00000354639.3_Missense_Mutation_p.D175N|STK31_ENST00000433467.2_Missense_Mutation_p.D198N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	198						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398																																						ENST00000355870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(592-594)Gat>Aat		serine/threonine kinase 31							135.0	126.0	129.0					7																	23775265		2203	4300	6503	SO:0001583	missense	56164	0	0					g.chr7:23775265G>A	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.592G>A	chr7.hg19:g.23775265G>A	ENSP00000348132:p.Asp198Asn	0					STK31_ENST00000354639.3_Missense_Mutation_p.D175N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N	p.D198N	NM_031414.4	NP_113602.2	1	2	3	2.000345	Q9BXU1	STK31_HUMAN		7	711	+			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	1	1	hg19	c.592G>A	CCDS5386.1	1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449376	0.84101	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.16	4.26	0.50523	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.34521	1.04	0.43255	D	0.99518	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32322	-0.9911	10	0.72032	D	0.01	-19.5725	12.3752	0.55275	0.0841:0.0:0.9159:0.0	.	198;198	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	198;198;175;175	ENSP00000348132:D198N;ENSP00000411852:D198N;ENSP00000346660:D175N;ENSP00000406146:D175N	ENSP00000346660:D175N	D	+	1	0	0	STK31	23741790	23741790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.557000	0.86248	0.467000	0.42956	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_031414			114	113		483	469	1		1	0		0	0	121	0		1	0	0	1	0	0	0	114	483
STK31	56164	broad.mit.edu	37	7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000355870.3	+	9	1246	c.1127A>C	c.(1126-1128)gAa>gCa	p.E376A	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000354639.3_Missense_Mutation_p.E353A|STK31_ENST00000433467.2_Missense_Mutation_p.E376A	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	376						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328																																						ENST00000355870.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(1126-1128)gAa>gCa		serine/threonine kinase 31							61.0	62.0	62.0					7																	23792445		2203	4300	6503	SO:0001583	missense	56164	0	0					g.chr7:23792445A>C	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.1127A>C	chr7.hg19:g.23792445A>C	ENSP00000348132:p.Glu376Ala	0					STK31_ENST00000354639.3_Missense_Mutation_p.E353A|STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A	p.E376A	NM_031414.4	NP_113602.2	1	2	3	2.000345	Q9BXU1	STK31_HUMAN		9	1246	+			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	1	1	hg19	c.1127A>C	CCDS5386.1	1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375457	0.42105	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	3.78	0.43462	4.94	3.78	0.43462	.	0.293334	0.33199	N	0.005178	T	0.18173	0.0436	M	0.64997	1.995	0.34460	D	0.701686	P;D	0.56521	0.954;0.976	B;P	0.47206	0.437;0.541	T	0.28650	-1.0037	10	0.72032	D	0.01	-14.8871	7.4108	0.27016	0.8993:0.0:0.1007:0.0	.	376;376	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	376;376;353;353	ENSP00000348132:E376A;ENSP00000411852:E376A;ENSP00000346660:E353A;ENSP00000406146:E353A	ENSP00000346660:E353A	E	+	2	0	0	STK31	23758970	23758970	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.206000	0.32321	0.844000	0.35094	0.482000	0.46254	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_031414			39	37		177	175	1		1	1		0	0	56	0		1	2.304817e-01	0	5	0	0	0	39	177
NPY	4852	broad.mit.edu	37	7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y	51					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677																																						ENST00000407573.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(151-153)Gcg>Acg		neuropeptide Y							76.0	56.0	63.0					7																	24325010		2203	4300	6503	SO:0001583	missense	4852	0	0					g.chr7:24325010G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.151G>A	chr7.hg19:g.24325010G>A	ENSP00000384364:p.Ala51Thr	0					NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T	p.A51T			1	2	3	2.000345	P01303	NPY_HUMAN		3	441	+				Missense_Mutation	SNP	ENST00000407573.1	1	1	hg19	c.151G>A	CCDS5387.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.062781	0.97246	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.52983	0.64;0.64;0.64	5.86	5.86	0.93980	5.86	5.86	0.93980	Pancreatic hormone-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74575	-0.3620	9	0.72032	D	0.01	-10.8804	20.1986	0.98248	0.0:0.0:1.0:0.0	.	51	P01303	NPY_HUMAN	T	51	ENSP00000242152:A51T;ENSP00000384364:A51T;ENSP00000385282:A51T	ENSP00000242152:A51T	A	+	1	0	0	NPY	24291535	24291535	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_000905			39	37		183	177	1		1			0	0	34	0		1	0	0	0	0	0	0	39	183
NPY	4852	broad.mit.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418																																						ENST00000407573.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(220-222)aTt>aGt		neuropeptide Y							123.0	115.0	118.0					7																	24329150		2203	4300	6503	SO:0001583	missense	4852	0	0					g.chr7:24329150T>G	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>G	chr7.hg19:g.24329150T>G	ENSP00000384364:p.Ile74Ser	0					NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S	p.I74S			1	2	3	2.000345	P01303	NPY_HUMAN		4	511	+				Missense_Mutation	SNP	ENST00000407573.1	1	1	hg19	c.221T>G	CCDS5387.1	1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508110	0.64410	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13420	2.59;2.59;2.59	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.13200	0.0320	.	.	.	0.54753	D	0.999986	P	0.36683	0.565	B	0.27608	0.081	T	0.01904	-1.1250	9	0.87932	D	0	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	S	74	ENSP00000242152:I74S;ENSP00000384364:I74S;ENSP00000385282:I74S	ENSP00000242152:I74S	I	+	2	0	0	NPY	24295675	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	0	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_000905			76	76		316	312	1		1			0	0	81	0		1	0	0	0	0	0	0	76	316
MPP6	51678	broad.mit.edu	37	7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000396475.2_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0	Poly-Glu.				maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338																																						ENST00000222644.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(94-96)cCt>cAt		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							61.0	66.0	64.0					7																	24663381		2203	4300	6503	SO:0001583	missense	51678	0	0					g.chr7:24663381C>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.95C>A	chr7.hg19:g.24663381C>A	ENSP00000222644:p.Pro32His	0					MPP6_ENST00000409761.1_Intron|MPP6_ENST00000396475.2_Missense_Mutation_p.P32H	p.P32H			1	2	3	2.000345	Q99547	MPH6_HUMAN		2	345	+			B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	1	1	hg19	c.95C>A	CCDS5388.1	1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.745140	0.89663	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.15603	2.41;3.47;3.47;2.44	5.47	5.47	0.80525	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000060	T	0.47377	0.1442	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.46148	-0.9212	10	0.62326	D	0.03	.	19.7166	0.96122	0.0:1.0:0.0:0.0	.	32	Q9NZW5	MPP6_HUMAN	H	32	ENSP00000395859:P32H;ENSP00000222644:P32H;ENSP00000379737:P32H;ENSP00000391020:P32H	ENSP00000222644:P32H	P	+	2	0	0	MPP6	24629906	24629906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.731000	0.93534	0.637000	0.83480	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-2.594091	1	0.170000				47	47		237	236	1		1	1		0	0	57	0		1	5.693408e-01	0	2	0	9	0	47	237
DFNA5	1687	broad.mit.edu	37	7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000342947.3	-	6	1264	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	280					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(838-840)gGa>gAa		deafness, autosomal dominant 5							142.0	132.0	135.0					7																	24749866		2203	4300	6503	SO:0001583	missense	1687	0	0					g.chr7:24749866C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.839G>A	chr7.hg19:g.24749866C>T	ENSP00000339587:p.Gly280Glu	0					DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E	p.G280E	NM_004403.2	NP_004394.1	1	2	3	2.000345	O60443	DFNA5_HUMAN		6	1264	-			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	1	1	hg19	c.839G>A	CCDS5389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.326027|1.326027	0.24080|0.24080	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000415480;ENST00000446822|ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.|T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04	5.21|5.21	0.259|0.259	0.15583|0.15583	5.21|5.21	0.259|0.259	0.15583|0.15583	.|.	.|0.852240	.|0.10510	.|N	.|0.666302	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.24701	.|0.055	T|T	0.39251|0.39251	-0.9623|-0.9623	5|10	.|0.02654	.|T	.|1	-1.1998|-1.1998	4.7256|4.7256	0.12939|0.12939	0.0:0.3958:0.2779:0.3263|0.0:0.3958:0.2779:0.3263	.|.	.|280	.|O60443	.|DFNA5_HUMAN	N|E	69;105|280;116;116;116;280	.|ENSP00000339587:G280E;ENSP00000401332:G116E;ENSP00000442661:G116E;ENSP00000387119:G116E;ENSP00000386670:G280E	.|ENSP00000339587:G280E	D|G	-|-	1|2	0|0	0|0	DFNA5|DFNA5	24716391|24716391	24716391|24716391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.163000|-0.163000	0.09997|0.09997	-0.270000|-0.270000	0.09285|0.09285	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_004403			72	70		437	425	1		1	1		0	0	100	0		1	9.999925e-01	0	24	0	80	0	72	437
OSBPL3	26031	broad.mit.edu	37	7	24874243	24874243	+	Silent	SNP	G	G	A	rs371031134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000409069.1_Silent_p.I469I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	536					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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTCCTTCCCGATGTTGTTCC	0.622																																						ENST00000313367.2	1.000000	0.200000	4.700000e-01	2.600000e-01	0.350000	0.393891	0.350000	0.340000																										0				43						c.(1606-1608)atC>atT		oxysterol binding protein-like 3		G	,,,	1,4405	2.1+/-5.4	0,1,2202	115.0	96.0	102.0		1608,1515,1500,1407	-11.7	0.0	7		102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL3	NM_015550.2,NM_145320.1,NM_145321.1,NM_145322.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	536/888,505/857,500/852,469/821	24874243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26031	5	121412	40				g.chr7:24874243G>A	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.1608C>T	chr7.hg19:g.24874243G>A		0					OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000409069.1_Silent_p.I469I	p.I536I	NM_015550.2	NP_056365.1	1	2	3	2.000345	Q9H4L5	OSBL3_HUMAN		15	2059	-			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	1	1	hg19	c.1608C>T	CCDS5390.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2	0	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.180231	1	0.170000				15	15		507	502	0		1	1		0	0	90	0		9.998627e-01	6.638559e-01	0	3	0	74	0	15	507
OSBPL3	26031	broad.mit.edu	37	7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000409069.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	409					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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542																																						ENST00000313367.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				43						c.(1225-1227)Gac>Aac		oxysterol binding protein-like 3							212.0	196.0	202.0					7																	24888729		2203	4300	6503	SO:0001583	missense	26031	1	121412	33				g.chr7:24888729C>T	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.1225G>A	chr7.hg19:g.24888729C>T	ENSP00000315410:p.Asp409Asn	0					OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000409069.1_Intron	p.D409N	NM_015550.2	NP_056365.1	1	2	3	2.000345	Q9H4L5	OSBL3_HUMAN		12	1676	-			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	1	1	hg19	c.1225G>A	CCDS5390.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668299	0.88348	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.51325	2.04;0.71;0.71	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.195094	0.53938	D	0.000045	T	0.48409	0.1498	M	0.72118	2.19	0.80722	D	1	B;P	0.34724	0.382;0.465	B;B	0.26969	0.07;0.075	T	0.53570	-0.8420	10	0.59425	D	0.04	-13.7122	18.0068	0.89212	0.0:1.0:0.0:0.0	.	378;409	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	N	409;378;378	ENSP00000315410:D409N;ENSP00000315331:D378N;ENSP00000379708:D378N	ENSP00000315410:D409N	D	-	1	0	0	OSBPL3	24855254	24855254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.676000	0.91093	0.655000	0.94253	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-20.000000	1	0.170000				85	81		595	576	1		1	1		0	0	105	0		1	9.853326e-01	0	15	0	33	0	85	595
C7orf31	136895	broad.mit.edu	37	7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		18400	0.0		0.002	False		,,,				2504	0.0					ENST00000409280.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1666-1668)Cgt>Tgt		chromosome 7 open reading frame 31		G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	119.0	118.0	119.0		1666	3.5	0.7	7	dbSNP_134	119	31,8569	20.4+/-63.3	0,31,4269	yes	missense	C7orf31	NM_138811.3	180	0,37,6466	AA,AG,GG		0.3605,0.1362,0.2845	probably-damaging	556/591	25175698	37,12969	2203	4300	6503	SO:0001583	missense	136895	135	121412	55				g.chr7:25175698G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1666C>T	chr7.hg19:g.25175698G>A	ENSP00000386604:p.Arg556Cys	0					C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C	p.R556C			1	2	3	2.000345	Q8N865	CG031_HUMAN		10	1974	-			A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	1	0	hg19	c.1666C>T	CCDS5394.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.45	1.941501	0.34283	0.001362	0.003605	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.55	0.40652	5.41	3.55	0.40652	.	0.200309	0.42682	N	0.000680	T	0.07818	0.0196	M	0.66939	2.045	0.22629	N	0.998914	P	0.34684	0.463	B	0.19666	0.026	T	0.33828	-0.9853	10	0.54805	T	0.06	-4.2669	4.6912	0.12781	0.0734:0.1319:0.5231:0.2716	.	556	Q8N865	CG031_HUMAN	C	556	ENSP00000386604:R556C;ENSP00000283905:R556C	ENSP00000283905:R556C	R	-	1	0	0	C7orf31	25142223	25142223	0.037000	0.19845	0.726000	0.30738	0.489000	0.33432	0.635000	0.24629	0.724000	0.32296	-0.258000	0.10820	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-2.936621	1	0.170000	NM_138811			111	110		471	465	1		1	1		0	0	99	0		1	9.388615e-01	0	7	0	15	0	111	471
C7orf31	136895	broad.mit.edu	37	7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393																																						ENST00000409280.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				14						c.(862-864)Ctg>Atg		chromosome 7 open reading frame 31							87.0	78.0	81.0					7																	25181949		2203	4300	6503	SO:0001583	missense	136895	0	0					g.chr7:25181949G>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.862C>A	chr7.hg19:g.25181949G>T	ENSP00000386604:p.Leu288Met	0					C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M	p.L288M			1	2	3	2.000345	Q8N865	CG031_HUMAN		9	1170	-			A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	1	1	hg19	c.862C>A	CCDS5394.1	1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687199	0.48097	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06528	3.29;3.29	5.48	1.41	0.22369	5.48	1.41	0.22369	.	0.446761	0.19074	N	0.123417	T	0.05181	0.0138	L	0.38838	1.175	0.25151	N	0.990429	P	0.37955	0.612	B	0.39503	0.301	T	0.32508	-0.9904	10	0.32370	T	0.25	-37.6172	4.6255	0.12476	0.1732:0.0:0.402:0.4248	.	288	Q8N865	CG031_HUMAN	M	288	ENSP00000386604:L288M;ENSP00000283905:L288M	ENSP00000283905:L288M	L	-	1	2	2	C7orf31	25148474	25148474	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.773000	0.33404	0.491000	0.48974	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_138811			41	41		232	224	1		1	1		0	0	47	0		1	9.140908e-01	0	2	0	24	0	41	232
NFE2L3	9603	broad.mit.edu	37	7	26225340	26225340	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	674					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)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408																																						ENST00000056233.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2020-2022)atA>atC		nuclear factor, erythroid 2-like 3							59.0	60.0	59.0					7																	26225340		2203	4296	6499	SO:0001819	synonymous_variant	9603	0	0					g.chr7:26225340A>C	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.2022A>C	chr7.hg19:g.26225340A>C		0						p.I674I	NM_004289.6	NP_004280.5	1	2	3	2.000345	Q9Y4A8	NF2L3_HUMAN		4	2281	+			Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	1	1	hg19	c.2022A>C	CCDS5396.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				86	85		360	354	0		1	1		0	0	69	0		1	1	0	87	0	160	0	86	360
CBX3	11335	broad.mit.edu	37	7	26251332	26251332	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	127	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348																																						ENST00000337620.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(379-381)atT>atC		chromobox homolog 3							74.0	74.0	74.0					7																	26251332		2203	4298	6501	SO:0001819	synonymous_variant	11335	0	0					g.chr7:26251332T>C	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.381T>C	chr7.hg19:g.26251332T>C		0					CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000409747.1_3'UTR	p.I127I	NM_007276.4	NP_009207.2	1	2	3	2.000345	Q13185	CBX3_HUMAN		5	809	+			Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Silent	SNP	ENST00000337620.4	1	1	hg19	c.381T>C	CCDS5398.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_007276			60	58		252	244	0		1	1		0	0	62	0		1	1	0	130	0	283	0	60	252
SNX10	29887	broad.mit.edu	37	7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000409838.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	79	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338523.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(235-237)aaA>aaC		sorting nexin 10							59.0	63.0	62.0					7																	26404691		2203	4300	6503	SO:0001583	missense	29887	0	0					g.chr7:26404691A>C	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.237A>C	chr7.hg19:g.26404691A>C	ENSP00000343709:p.Lys79Asn	0		OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	786	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N	p.K79N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	1	2	3	2.000345	Q9Y5X0	SNX10_HUMAN		5	424	+			E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	1	1	hg19	c.237A>C	CCDS5399.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327163	0.81690	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.17	5.03	0.67393	6.17	5.03	0.67393	Phox homologous domain (5);	0.137279	0.64402	D	0.000003	T	0.74898	0.3777	M	0.92459	3.31	0.39415	D	0.966823	D;D	0.63880	0.993;0.986	P;P	0.61397	0.888;0.67	T	0.82084	-0.0632	10	0.87932	D	0	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	105;79	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	N	105;79;105;79;39	ENSP00000408164:K105N;ENSP00000343709:K79N;ENSP00000395474:K105N;ENSP00000379661:K79N;ENSP00000387274:K39N	ENSP00000343709:K79N	K	+	3	2	2	SNX10	26371216	26371216	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.599000	0.46231	2.371000	0.80710	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				44	44		174	171	1		1	1		0	0	48	0		1	1	0	8	0	137	0	44	174
HOXA2	3199	broad.mit.edu	37	7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	350					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)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448																																						ENST00000222718.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1048-1050)aGt>aAt		homeobox A2							86.0	85.0	86.0					7																	27140427		2203	4300	6503	SO:0001583	missense	3199	0	0					g.chr7:27140427C>T		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.1049G>A	chr7.hg19:g.27140427C>T	ENSP00000222718:p.Ser350Asn	0					HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	p.S350N	NM_006735.3	NP_006726.1	1	2	3	2.000345	O43364	HXA2_HUMAN		2	1359	-			A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	1	1	hg19	c.1049G>A	CCDS5403.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209575	0.79240	.	.	ENSG00000105996	ENST00000222718	T	0.11169	2.8	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	350	O43364	HXA2_HUMAN	N	350	ENSP00000222718:S350N	ENSP00000222718:S350N	S	-	2	0	0	HOXA2	27106952	27106952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.492000	0.84095	0.655000	0.94253	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.060000	-20.000000	1	0.170000				111	108		524	511	1		1	0		0	0	125	0		1	4.866195e-01	0	0	0	9	0	111	524
HOXA3	3200	broad.mit.edu	37	7	27147792	27147792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	358					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)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1072-1074)ccA>ccG		homeobox A3							25.0	22.0	23.0					7																	27147792		2202	4298	6500	SO:0001819	synonymous_variant	3200	0	0					g.chr7:27147792T>C		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.1074A>G	chr7.hg19:g.27147792T>C		0					HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	p.P358P	NM_030661.4	NP_109377.1	1	2	3	2.000345	O43365	HXA3_HUMAN		3	1273	-			A4D181	Silent	SNP	ENST00000396352.4	1	1	hg19	c.1074A>G	CCDS5404.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000				33	33		126	125	0		1	0		0	0	22	0		1	2.840499e-01	0	0	0	5	0	33	126
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	C	T	rs199930483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					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)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(877-879)tcG>tcA		homeobox A3							29.0	35.0	33.0					7																	27147987		2202	4298	6500	SO:0001819	synonymous_variant	3200	0	0					g.chr7:27147987C>T		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.879G>A	chr7.hg19:g.27147987C>T		0					HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	p.S293S	NM_030661.4	NP_109377.1	1	2	3	2.000345	O43365	HXA3_HUMAN		3	1078	-			A4D181	Silent	SNP	ENST00000396352.4	1	1	hg19	c.879G>A	CCDS5404.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.689230	1	0.170000				69	69		285	278	0		1	0		0	0	50	0		1	5.477960e-01	0	1	0	8	0	69	285
HOXA4	3201	broad.mit.edu	37	7	27170305	27170305	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521159.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	16	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|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)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582																																						ENST00000360046.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999844	0.990000	1.000000																										0				12						c.(46-48)aaG>aaA		homeobox A4							16.0	16.0	16.0					7																	27170305		2202	4298	6500	SO:0001819	synonymous_variant	3201	0	0					g.chr7:27170305C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.48G>A	chr7.hg19:g.27170305C>T		0					HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000517550.1_RNA	p.K16K	NM_002141.4	NP_002132.3	1	2	3	2.000345	Q00056	HXA4_HUMAN		1	113	-			A4D180|O43366	Silent	SNP	ENST00000360046.5	0	1	hg19	c.48G>A	CCDS5405.1	1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254503	0.59212	.	.	ENSG00000197576	ENST00000548581	.	.	.	4.32	4.32	0.51571	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9748	0.19373	0.0:0.7431:0.0:0.2569	.	.	.	.	.	-1	.	.	.	-	.	.	.	HOXA4	27136830	27136830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	2.115000	0.64714	0.650000	0.86243	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000				17	17		73	71	0		1	0		0	0	17	0		9.999777e-01	0	0	0	0	1	0	17	73
HOXA5	3202	broad.mit.edu	37	7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	138					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|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)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746																																					Colon(119;75 2200 7557 42868)	ENST00000222726.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(412-414)aGc>aTc		homeobox A5							22.0	28.0	26.0					7																	27182814		2189	4288	6477	SO:0001583	missense	3202	0	0					g.chr7:27182814C>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.413G>T	chr7.hg19:g.27182814C>A	ENSP00000222726:p.Ser138Ile	0					HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	p.S138I	NM_019102.3	NP_061975.2	1	2	3	2.000345	P20719	HXA5_HUMAN		1	473	-			A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	1	1	hg19	c.413G>T	CCDS5406.1	1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921704	0.17982	.	.	ENSG00000106004	ENST00000222726	D	0.92249	-3.0	4.21	2.41	0.29592	4.21	2.41	0.29592	.	0.134181	0.64402	D	0.000003	D	0.82981	0.5155	N	0.21448	0.665	0.31152	N	0.705393	B	0.02656	0.0	B	0.04013	0.001	T	0.74987	-0.3476	10	0.30854	T	0.27	.	6.9164	0.24361	0.1432:0.7032:0.0:0.1537	.	138	P20719	HXA5_HUMAN	I	138	ENSP00000222726:S138I	ENSP00000222726:S138I	S	-	2	0	0	HOXA5	27149339	27149339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.840000	0.39230	0.726000	0.32339	0.591000	0.81541	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000				80	79		386	380	0		1	0		0	0	60	0		1	0	0	0	0	1	0	80	386
HOXA11	3207	broad.mit.edu	37	7	27222562	27222562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y	HOXA11-AS_ENST00000520360.1_RNA|HOXA10_ENST00000396344.4_5'Flank|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	265					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493			T	NUP98	CML																																	ENST00000006015.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7p15-p14.2	7p15-p14.2	3207	T	homeo box A11				L	L	NUP98		CML		0				16						c.(793-795)taC>taT		homeobox A11							92.0	94.0	93.0					7																	27222562		2203	4300	6503	SO:0001819	synonymous_variant	3207	0	0					g.chr7:27222562G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.795C>T	chr7.hg19:g.27222562G>A		0					HOXA11-AS_ENST00000520395.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA	p.Y265Y	NM_005523.5	NP_005514.1	1	2	3	2.000345	P31270	HXA11_HUMAN		2	866	-			A4D190	Silent	SNP	ENST00000006015.3	1	1	hg19	c.795C>T	CCDS5411.1	1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441812	0.12164	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	-1.18	0.09617	5.91	-1.18	0.09617	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	11.4646	0.50230	0.5571:0.0:0.4429:0.0	.	.	.	.	I	235	.	.	T	-	2	0	0	HOXA11	27189087	27189087	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.168000	0.31859	-0.109000	0.12044	-0.982000	0.02568	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1	1	0	1		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000				115	111		529	509	0		1			0	0	115	0		1	0	0	0	0	0	0	115	529
HOXA13	3209	broad.mit.edu	37	7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	218					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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692			T	NUP98	AML																																	ENST00000222753.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7p15-p14.2	7p15-p14.2	3209	T	homeo box A13				L	L	NUP98		AML		0				6						c.(652-654)gCc>gTc		homeobox A13							33.0	35.0	34.0					7																	27239044		2203	4299	6502	SO:0001583	missense	3209	0	0					g.chr7:27239044G>A		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.653C>T	chr7.hg19:g.27239044G>A	ENSP00000222753:p.Ala218Val	0					HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA	p.A218V	NM_000522.4	NP_000513.2	1	2	3	2.000345	P31271	HXA13_HUMAN		1	681	-			A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	1	1	hg19	c.653C>T	CCDS5412.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698676	0.88830	.	.	ENSG00000106031	ENST00000222753	T	0.45276	0.9	4.11	3.19	0.36642	4.11	3.19	0.36642	.	0.115129	0.56097	D	0.000034	T	0.40094	0.1103	L	0.33245	0.995	0.30730	N	0.747292	P	0.42961	0.795	P	0.50270	0.636	T	0.43605	-0.9381	10	0.87932	D	0	.	7.8364	0.29371	0.0:0.3133:0.5316:0.1551	.	218	P31271	HXA13_HUMAN	V	218	ENSP00000222753:A218V	ENSP00000222753:A218V	A	-	2	0	0	HOXA13	27205569	27205569	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.709000	0.47160	0.794000	0.33899	0.456000	0.33151	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				60	60		235	230	0		1			0	0	35	0		1	0	0	0	0	0	0	60	235
EVX1	2128	broad.mit.edu	37	7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	EVX1_ENST00000535619.1_Intron|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	126					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AATCGAGGTGAGCTGCACCCC	0.682																																						ENST00000496902.4	1.000000	0.470000	1	6.400000e-01	0.840000	0.828529	0.840000	1.000000																										0				14						c.(376-378)Agc>Ggc		even-skipped homeobox 1							19.0	20.0	20.0					7																	27283025		2193	4282	6475	SO:0001583	missense	2128	0	0					g.chr7:27283025A>G		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.376A>G	chr7.hg19:g.27283025A>G	ENSP00000419266:p.Ser126Gly	0					RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron	p.S126G			1	2	3	2.000345	P49640	EVX1_HUMAN		1	862	+			A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	1	1	hg19	c.376A>G	CCDS5413.1	0	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563897	0.13498	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.71581	2.175	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.83129	-0.0114	10	0.06099	T	0.92	-24.7788	15.3786	0.74633	1.0:0.0:0.0:0.0	.	126	P49640	EVX1_HUMAN	G	126	ENSP00000419266:S126G	ENSP00000419266:S126G	S	+	1	0	0	EVX1	27249550	27249550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.038000	0.60285	0.459000	0.35465	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-17.813360	1	0.170000				13	11		174	174	0		1			0	0	36	0		9.995628e-01	0	0	0	0	0	0	13	174
EVX1	2128	broad.mit.edu	37	7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1_ENST00000535619.1_5'UTR|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000222761.3_Silent_p.A160A|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	179					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672																																						ENST00000496902.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(535-537)Gcc>Acc		even-skipped homeobox 1							39.0	43.0	42.0					7																	27284774		2203	4300	6503	SO:0001583	missense	2128	0	0					g.chr7:27284774G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.535G>A	chr7.hg19:g.27284774G>A	ENSP00000419266:p.Ala179Thr	0					EVX1_ENST00000222761.3_Silent_p.A160A|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_5'UTR	p.A179T			1	2	3	2.000345	P49640	EVX1_HUMAN		2	1021	+			A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	1	1	hg19	c.535G>A	CCDS5413.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387359	0.82902	.	.	ENSG00000106038	ENST00000496902	D	0.95656	-3.77	5.41	5.41	0.78517	5.41	5.41	0.78517	Homeodomain-related (1);Homeodomain-like (1);	0.103751	0.64402	D	0.000004	D	0.93726	0.7995	M	0.64997	1.995	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	D	0.94154	0.7408	10	0.52906	T	0.07	-20.9374	19.1941	0.93679	0.0:0.0:1.0:0.0	.	179	P49640	EVX1_HUMAN	T	179	ENSP00000419266:A179T	ENSP00000419266:A179T	A	+	1	0	0	EVX1	27251299	27251299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.718000	0.68455	2.542000	0.85734	0.462000	0.41574	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000				100	98		372	365	1		1			0	0	67	0		1	0	0	0	0	0	0	100	372
HIBADH	11112	broad.mit.edu	37	7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TCCTCTCGTAGGAACTGGAAC	0.502																																						ENST00000265395.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(988-990)Cta>Ata		3-hydroxyisobutyrate dehydrogenase							111.0	84.0	93.0					7																	27565856		2203	4300	6503	SO:0001583	missense	11112	0	0					g.chr7:27565856G>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.988C>A	chr7.hg19:g.27565856G>T	ENSP00000265395:p.Leu330Ile	0						p.L330I	NM_152740.3	NP_689953.1	1	2	3	2.000345	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)	8	1194	-			Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	1	1	hg19	c.988C>A	CCDS5414.1	1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441916	0.63067	.	.	ENSG00000106049	ENST00000265395	T	0.36340	1.26	6.16	5.29	0.74685	6.16	5.29	0.74685	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.71920	2.185	0.80722	D	1	B	0.27997	0.197	P	0.49665	0.618	T	0.55717	-0.8097	10	0.45353	T	0.12	-1.5058	7.2851	0.26333	0.2718:0.0:0.7282:0.0	.	330	P31937	3HIDH_HUMAN	I	330	ENSP00000265395:L330I	ENSP00000265395:L330I	L	-	1	2	2	HIBADH	27532381	27532381	1.000000	0.71417	0.867000	0.34043	0.821000	0.46438	4.995000	0.63908	1.629000	0.50426	0.650000	0.86243	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.999140	1	0.170000	NM_152740			34	34		115	115	1		1	1		0	0	36	0		1	1	0	39	0	126	0	34	115
HIBADH	11112	broad.mit.edu	37	7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	144					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			ACTTCTTTGGCCAATTCTTTT	0.333																																						ENST00000265395.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(430-432)Gcc>Acc		3-hydroxyisobutyrate dehydrogenase							147.0	146.0	146.0					7																	27669044		2203	4300	6503	SO:0001583	missense	11112	0	0					g.chr7:27669044C>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.430G>A	chr7.hg19:g.27669044C>T	ENSP00000265395:p.Ala144Thr	0						p.A144T	NM_152740.3	NP_689953.1	1	2	3	2.000345	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)	4	636	-			Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	1	1	hg19	c.430G>A	CCDS5414.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728778|4.728778	0.89390|0.89390	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.38401|.	1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.103605|.	0.64402|.	D|.	0.000003|.	D|.	0.84365|.	0.5456|.	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	B;B|.	0.27882|.	0.192;0.192|.	B;B|.	0.37550|.	0.253;0.253|.	D|.	0.85455|.	0.1163|.	10|.	0.59425|.	D|.	0.04|.	-17.6332|-17.6332	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144;144|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	T|X	144|86	ENSP00000265395:A144T|.	ENSP00000265395:A144T|.	A|W	-|-	1|3	0|0	0|0	HIBADH|HIBADH	27635569|27635569	27635569|27635569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.490000|4.490000	0.60319|0.60319	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GCC|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-3.222105	1	0.170000	NM_152740			71	71		427	417	1		1	1		0	0	91	0		1	1	0	50	0	149	0	71	427
TAX1BP1	8887	broad.mit.edu	37	7	27797740	27797740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	ENST00000396319.2	+	3	341	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_ENST00000265393.6_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Silent_p.L85L|TAX1BP1_ENST00000543117.1_Silent_p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	85					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)			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)			CAATTGTGTACTAGCATTCCA	0.388																																						ENST00000396319.2	1.000000	0.170000	4.800000e-01	2.400000e-01	0.330000	0.382858	0.330000	0.320000																										0				31						c.(253-255)Cta>Tta		Tax1 (human T-cell leukemia virus type I) binding protein 1							193.0	159.0	170.0					7																	27797740		2203	4300	6503	SO:0001819	synonymous_variant	8887	0	0					g.chr7:27797740C>T	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.253C>T	chr7.hg19:g.27797740C>T		0					TAX1BP1_ENST00000265393.6_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L	p.L85L	NM_006024.6	NP_006015.4	1	2	3	2.000345	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)	3	341	+			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	1	1	hg19	c.253C>T	CCDS5415.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-2.922088	1	0.170000	NM_006024			10	10		359	355	0		1	1		0	0	69	0		9.968050e-01	9.996758e-01	0	26	0	520	0	10	359
TAX1BP1	8887	broad.mit.edu	37	7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	245					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)			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)			AACACATAAAGCAATTGAAAA	0.279																																						ENST00000396319.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(733-735)Gca>Tca		Tax1 (human T-cell leukemia virus type I) binding protein 1							80.0	77.0	78.0					7																	27824902		2203	4300	6503	SO:0001583	missense	8887	0	0					g.chr7:27824902G>T	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.733G>T	chr7.hg19:g.27824902G>T	ENSP00000379612:p.Ala245Ser	0					TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S	p.A245S	NM_006024.6	NP_006015.4	1	2	3	2.000345	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)	6	821	+			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	1	1	hg19	c.733G>T	CCDS5415.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.166803	0.94768	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.30823	0.0777	L	0.53249	1.67	0.58432	D	0.999994	D;P;D	0.89917	1.0;0.877;0.971	D;P;P	0.91635	0.999;0.74;0.888	T	0.00122	-1.2027	10	0.30854	T	0.27	-17.8587	20.2572	0.98426	0.0:0.0:1.0:0.0	.	88;245;245	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	245;245;245;88;245	ENSP00000444811:A245S;ENSP00000265393:A245S;ENSP00000386515:A245S;ENSP00000391907:A88S;ENSP00000379612:A245S	ENSP00000265393:A245S	A	+	1	0	0	TAX1BP1	27791427	27791427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.960000	0.70348	2.793000	0.96121	0.650000	0.86243	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_006024			46	46		217	214	1		1	1		0	0	50	0		1	1	0	199	0	485	0	46	217
CHN2	1124	broad.mit.edu	37	7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G	rs374654158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000222792.6	+	13	1810	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|AC007255.8_ENST00000447171.1_RNA|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1279-1281)cTg>cGg		chimerin 2							91.0	93.0	92.0					7																	29552224		2203	4300	6503	SO:0001583	missense	1124	0	0					g.chr7:29552224T>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1280T>G	chr7.hg19:g.29552224T>G	ENSP00000222792:p.Leu427Arg	0					CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000410098.1_3'UTR|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R	p.L427R	NM_004067.2	NP_004058.1	1	2	3	2.000345	P52757	CHIO_HUMAN		13	1810	+			A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	1	1	hg19	c.1280T>G	CCDS5420.1	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149759	0.78001	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.57907	0.51;0.51;0.37;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.41	5.41	0.78517	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068865	0.64402	D	0.000011	D	0.84188	0.5417	H	0.99312	4.51	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.763;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.917;0.918;0.992;0.582;0.998;0.999;0.998;0.999;0.998;0.917;0.992;0.917	D	0.90959	0.4811	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	220;412;440;502;246;200;219;187;245;233;283;427;291;427	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	502;427;151;440;283;412;291;246;245;233	ENSP00000444063:L502R;ENSP00000222792:L427R;ENSP00000400282:L151R;ENSP00000438587:L440R;ENSP00000440526:L283R;ENSP00000442812:L412R;ENSP00000386849:L291R;ENSP00000406337:L246R;ENSP00000387425:L245R;ENSP00000394284:L233R	ENSP00000222792:L427R	L	+	2	0	0	CHN2	29518749	29518749	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_004067			73	71		300	296	1		1	1		0	0	70	0		1	9.218541e-01	0	3	0	16	0	73	300
SCRN1	9805	broad.mit.edu	37	7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522																																						ENST00000426154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1186-1188)gCg>gTg		secernin 1							104.0	106.0	105.0					7																	29963631		2203	4300	6503	SO:0001583	missense	9805	2	121412	35				g.chr7:29963631G>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1187C>T	chr7.hg19:g.29963631G>A	ENSP00000409068:p.Ala396Val	0					SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V	p.A396V	NM_001145513.1	NP_001138985.1	1	2	3	2.000345	Q12765	SCRN1_HUMAN		8	1363	-			A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	1	1	hg19	c.1187C>T	CCDS5422.1	1	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408774	0.11812	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12255	3.22;3.22;3.07;3.22;2.7;3.21	4.73	3.85	0.44370	4.73	3.85	0.44370	.	0.335476	0.28011	N	0.016950	T	0.10423	0.0255	L	0.42245	1.32	0.09310	N	1	B;B;P;B	0.36837	0.106;0.049;0.571;0.007	B;B;B;B	0.27262	0.007;0.007;0.078;0.004	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.9737	11.8492	0.52401	0.0863:0.0:0.9137:0.0	.	416;416;328;396	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	V	396;396;328;200;396;222;416	ENSP00000242059:A396V;ENSP00000409068:A396V;ENSP00000414245:A328V;ENSP00000386872:A396V;ENSP00000407460:A222V;ENSP00000388942:A416V	ENSP00000242059:A396V	A	-	2	0	0	SCRN1	29930156	29930156	0.123000	0.22298	0.015000	0.15790	0.099000	0.18886	2.986000	0.49370	1.108000	0.41662	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	1	0	0		2	2	2	0		0	0	121		121	117	1	2.060000	-3.402010	1	0.170000	NM_014766			125	122		523	511	1		1	1		0	0	121	0		1	1	0	4	0	107	0	125	523
SCRN1	9805	broad.mit.edu	37	7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532																																						ENST00000426154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(514-516)gGg>gAg		secernin 1							159.0	132.0	141.0					7																	29983622		2203	4300	6503	SO:0001583	missense	9805	0	0					g.chr7:29983622C>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.515G>A	chr7.hg19:g.29983622C>T	ENSP00000409068:p.Gly172Glu	0					SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E|SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E	p.G172E	NM_001145513.1	NP_001138985.1	1	2	3	2.000345	Q12765	SCRN1_HUMAN		4	691	-			A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	1	1	hg19	c.515G>A	CCDS5422.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.199317	0.94997	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;2.28;-0.11;-0.11	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	E	172;172;104;172;63;192;172	ENSP00000242059:G172E;ENSP00000409068:G172E;ENSP00000414245:G104E;ENSP00000386872:G172E;ENSP00000407460:G63E;ENSP00000388942:G192E;ENSP00000413184:G172E	.	G	-	2	0	0	SCRN1	29950147	29950147	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	0	0	1		2	2	2	0		0	0	106		106	103	1	2.060000	-2.925848	1	0.170000	NM_014766			91	88		423	407	1		1	0		0	0	106	0		1	1	0	0	0	128	0	91	423
SCRN1	9805	broad.mit.edu	37	7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	126					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423																																						ENST00000426154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(376-378)gCc>gAc		secernin 1							116.0	104.0	108.0					7																	29983760		2203	4300	6503	SO:0001583	missense	9805	0	0					g.chr7:29983760G>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.377C>A	chr7.hg19:g.29983760G>T	ENSP00000409068:p.Ala126Asp	0					SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D	p.A126D	NM_001145513.1	NP_001138985.1	1	2	3	2.000345	Q12765	SCRN1_HUMAN		4	553	-			A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	1	1	hg19	c.377C>A	CCDS5422.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.281032	0.95489	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.56103	1.67;1.67;1.67;1.67;1.88;1.67;1.67;0.48	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	H	0.96175	3.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87229	0.2259	9	.	.	.	-17.6619	18.9075	0.92469	0.0:0.0:1.0:0.0	.	146;58;126	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	D	126;126;58;126;17;146;126;126	ENSP00000242059:A126D;ENSP00000409068:A126D;ENSP00000414245:A58D;ENSP00000386872:A126D;ENSP00000407460:A17D;ENSP00000388942:A146D;ENSP00000413184:A126D;ENSP00000406289:A126D	.	A	-	2	0	0	SCRN1	29950285	29950285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_014766			65	64		313	308	1		1	1		0	0	76	0		1	9.999994e-01	0	2	0	101	0	65	313
PLEKHA8	84725	broad.mit.edu	37	7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000449726.1	+	10	1431	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	361	Glycolipid transfer protein homology domain.			MDLVGNI -> DGSCWKY (in Ref. 5; AAG48267). {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)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323																																						ENST00000449726.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1081-1083)Ctt>Att		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							117.0	113.0	114.0					7																	30100541		2203	4300	6503	SO:0001583	missense	84725	0	0					g.chr7:30100541C>A	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.1081C>A	chr7.hg19:g.30100541C>A	ENSP00000397947:p.Leu361Ile	0					PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I	p.L361I	NM_001197027.1	NP_001183956.1	1	2	3	2.000345	Q96JA3	PKHA8_HUMAN		10	1431	+			B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	1	1	hg19	c.1081C>A	CCDS56473.1	1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165487	0.21538	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	4.91	4.91	0.64330	4.91	4.91	0.64330	Glycolipid transfer protein domain (3);	0.056844	0.64402	D	0.000001	T	0.33059	0.0850	N	0.11818	0.18	0.27784	N	0.943051	B;P;D;P	0.67145	0.211;0.885;0.996;0.846	B;P;D;B	0.75484	0.066;0.589;0.986;0.41	T	0.18116	-1.0347	9	0.09084	T	0.74	-24.9016	7.9807	0.30181	0.0:0.8245:0.0:0.1755	.	361;361;361;361	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	361;361;361;361;387	.	ENSP00000258679:L361I	L	+	1	0	0	PLEKHA8	30067066	30067066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.410000	0.81850	0.467000	0.42956	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_032639			83	83		377	369	1		1	1		0	0	86	0		1	9.440323e-01	0	9	0	15	0	83	377
MTURN	222166	broad.mit.edu	37	7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000324453.8	+	1	457	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		44					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657																																						ENST00000324453.8	1.000000	0.830000	1	9.900000e-01	0.990000	0.989966	0.990000	1.000000																										0				3						c.(130-132)Ctg>Atg									22.0	29.0	26.0					7																	30174882		2158	4270	6428	SO:0001583	missense	0	0	0					g.chr7:30174882C>A																												ENST00000324453.8:c.130C>A	chr7.hg19:g.30174882C>A	ENSP00000324204:p.Leu44Met	0					C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	p.L44M	NM_152793.2	NP_690006.2	1	2	3	2.000345	Q8N3F0	MTURN_HUMAN		1	457	+			B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	0	1	hg19	c.130C>A	CCDS5425.2	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816213	0.50527	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	2.75	0.32379	3.65	2.75	0.32379	.	0.207640	0.30714	U	0.009021	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	D	0.65323	0.934	T	0.52668	-0.8545	9	0.66056	D	0.02	-9.4088	8.8308	0.35082	0.0:0.8806:0.0:0.1194	.	44	Q8N3F0	CG041_HUMAN	M	44	.	ENSP00000324204:L44M	L	+	1	2	2	C7orf41	30141407	30141407	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	3.833000	0.55790	0.497000	0.27926	0.289000	0.19496	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-18.725420	1	0.170000				11	11		73	71	0		1	1		0	0	16	0		9.985250e-01	9.879510e-01	0	16	0	38	0	11	73
NOD1	10392	broad.mit.edu	37	7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	690					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)			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						CTGCAGTCGGCCGAGCAGGCG	0.627																																						ENST00000222823.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2068-2070)Gcc>Acc		nucleotide-binding oligomerization domain containing 1							92.0	101.0	98.0					7																	30490965		2203	4300	6503	SO:0001583	missense	10392	0	0					g.chr7:30490965C>T	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.2068G>A	chr7.hg19:g.30490965C>T	ENSP00000222823:p.Ala690Thr	0						p.A690T	NM_006092.2	NP_006083.1	1	2	3	2.000345	Q9Y239	NOD1_HUMAN		6	2593	-			B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	1	1	hg19	c.2068G>A	CCDS5427.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956733	0.73902	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.157867	0.56097	D	0.000037	T	0.62998	0.2474	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.65195	-0.6227	10	0.56958	D	0.05	.	13.7785	0.63069	0.1532:0.8468:0.0:0.0	.	690	Q9Y239	NOD1_HUMAN	T	690	ENSP00000222823:A690T	ENSP00000222823:A690T	A	-	1	0	0	NOD1	30457490	30457490	0.990000	0.36364	0.865000	0.33974	0.953000	0.61014	2.834000	0.48167	2.709000	0.92574	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	1		22	2	2	0		0	1	75		75	75	1	2.060000	-20.000000	1	0.170000				106	103		424	420	1		1	1		0	0	75	0		1	9.831502e-01	0	5	0	23	0	106	424
NOD1	10392	broad.mit.edu	37	7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	439	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)			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						CACCAGGCTGCTGGGCTGCAT	0.652																																						ENST00000222823.4	1.000000	0.810000	1	9.400000e-01	0.990000	0.978707	0.990000	1.000000																										0				39						c.(1315-1317)aGc>aTc		nucleotide-binding oligomerization domain containing 1							56.0	54.0	54.0					7																	30491717		2203	4300	6503	SO:0001583	missense	10392	0	0					g.chr7:30491717C>A	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.1316G>T	chr7.hg19:g.30491717C>A	ENSP00000222823:p.Ser439Ile	0						p.S439I	NM_006092.2	NP_006083.1	1	2	3	2.000345	Q9Y239	NOD1_HUMAN		6	1841	-			B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	1	1	hg19	c.1316G>T	CCDS5427.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383985	0.25031	.	.	ENSG00000106100	ENST00000222823	T	0.71934	-0.61	5.71	1.63	0.23807	5.71	1.63	0.23807	NACHT nucleoside triphosphatase (1);	0.663946	0.17186	N	0.183688	T	0.52419	0.1733	N	0.14661	0.345	0.38005	D	0.934361	B	0.09022	0.002	B	0.04013	0.001	T	0.46952	-0.9154	10	0.41790	T	0.15	.	12.7173	0.57121	0.078:0.6397:0.2823:0.0	.	439	Q9Y239	NOD1_HUMAN	I	439	ENSP00000222823:S439I	ENSP00000222823:S439I	S	-	2	0	0	NOD1	30458242	30458242	0.998000	0.40836	0.956000	0.39512	0.962000	0.63368	2.780000	0.47742	0.308000	0.22923	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000				41	40		400	397	0		1	0		0	0	60	0		1	6.694087e-01	0	0	0	24	0	41	400
NOD1	10392	broad.mit.edu	37	7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	40	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)			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						TTGTCCACCAGACACTGAGTA	0.527																																						ENST00000222823.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(118-120)Ctg>Atg		nucleotide-binding oligomerization domain containing 1							178.0	153.0	161.0					7																	30496420		2203	4300	6503	SO:0001583	missense	10392	0	0					g.chr7:30496420G>T	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.118C>A	chr7.hg19:g.30496420G>T	ENSP00000222823:p.Leu40Met	0					NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	p.L40M	NM_006092.2	NP_006083.1	1	2	3	2.000345	Q9Y239	NOD1_HUMAN		4	643	-			B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	1	1	hg19	c.118C>A	CCDS5427.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887516	0.72410	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433;ENST00000419601	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.8	4.92	0.64577	5.8	4.92	0.64577	DEATH-like (2);Caspase Recruitment (2);	0.070867	0.56097	D	0.000035	T	0.50222	0.1603	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	T	0.39078	-0.9631	10	0.26408	T	0.33	.	9.7691	0.40578	0.1422:0.0:0.8578:0.0	.	40;40	B4DTU3;Q9Y239	.;NOD1_HUMAN	M	40	ENSP00000222823:L40M;ENSP00000409416:L40M;ENSP00000396046:L40M;ENSP00000395551:L40M;ENSP00000399505:L40M	ENSP00000222823:L40M	L	-	1	2	2	NOD1	30462945	30462945	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.014000	0.29950	2.744000	0.94065	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000				95	95		388	378	1		1	1		0	0	89	0		1	9.777039e-01	0	6	0	21	0	95	388
GARS	2617	broad.mit.edu	37	7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	105	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438																																						ENST00000389266.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				24						c.(313-315)Ctg>Atg		glycyl-tRNA synthetase	Glycine(DB00145)						55.0	58.0	57.0					7																	30638502		1878	4097	5975	SO:0001583	missense	2617	0	0					g.chr7:30638502C>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.313C>A	chr7.hg19:g.30638502C>A	ENSP00000373918:p.Leu105Met	0						p.L105M	NM_002047.2	NP_002038.2	1	2	3	2.000345	P41250	SYG_HUMAN		2	554	+			B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	1	1	hg19	c.313C>A	CCDS43564.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276056	0.59649	.	.	ENSG00000106105	ENST00000389266	T	0.43688	0.94	5.29	3.46	0.39613	5.29	3.46	0.39613	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.91300	3.195	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.70142	-0.4953	10	0.59425	D	0.04	-11.9529	8.6872	0.34245	0.0:0.8139:0.0:0.1861	.	105	P41250	SYG_HUMAN	M	105	ENSP00000373918:L105M	ENSP00000373918:L105M	L	+	1	2	2	GARS	30605027	30605027	0.963000	0.33076	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	1.396000	0.46663	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_002047			35	35		172	168	0		1	1		0	0	53	0		1	1	0	124	0	227	0	35	172
GARS	2617	broad.mit.edu	37	7	30639665	30639665	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	143					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TATTTATGGAGGTAAGGGATT	0.378																																						ENST00000389266.3	1.000000	0.100000	3.900000e-01	1.600000e-01	0.250000	0.305825	0.250000	0.230000																										0				24						c.(427-429)Ggt>Tgt		glycyl-tRNA synthetase	Glycine(DB00145)						70.0	68.0	69.0					7																	30639665		1850	4092	5942	SO:0001630	splice_region_variant	2617	0	0					g.chr7:30639665G>T	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.427+1G>T	chr7.hg19:g.30639665G>T		0						p.G143C	NM_002047.2	NP_002038.2	1	2	3	2.000345	P41250	SYG_HUMAN		3	668	+			B3KQA2|B4DIA0|Q969Y1	Splice_Site	SNP	ENST00000389266.3	0	1	hg19	c.427G>T	CCDS43564.1	0	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749564	0.89753	.	.	ENSG00000106105	ENST00000389266	T	0.81163	-1.46	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95100	0.8229	10	0.87932	D	0	-18.4527	17.4148	0.87497	0.0:0.0:1.0:0.0	.	143	P41250	SYG_HUMAN	C	143	ENSP00000373918:G143C	ENSP00000373918:G143C	G	+	1	0	0	GARS	30606190	30606190	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.818000	0.99354	2.784000	0.95788	0.643000	0.83706	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	0		2	2	2	0		0	0	53		53	53	1	2.060000	-4.052476	1	0.170000	NM_002047	Missense_Mutation		6	6		300	290	0		1	1		0	0	53	0		9.616340e-01	9.802594e-01	0	8	0	355	0	6	300
GARS	2617	broad.mit.edu	37	7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	186					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368																																						ENST00000389266.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(556-558)Gag>Aag		glycyl-tRNA synthetase	Glycine(DB00145)						91.0	86.0	88.0					7																	30640803		1892	4116	6008	SO:0001583	missense	2617	0	0					g.chr7:30640803G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.556G>A	chr7.hg19:g.30640803G>A	ENSP00000373918:p.Glu186Lys	0						p.E186K	NM_002047.2	NP_002038.2	1	2	3	2.000345	P41250	SYG_HUMAN		4	797	+			B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	1	1	hg19	c.556G>A	CCDS43564.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.074508	0.94000	.	.	ENSG00000106105	ENST00000389266	T	0.68181	-0.31	5.69	4.77	0.60923	5.69	4.77	0.60923	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045743	0.85682	D	0.000000	T	0.70622	0.3245	L	0.53671	1.685	0.80722	D	1	D	0.53745	0.962	P	0.50970	0.655	T	0.73924	-0.3829	10	0.72032	D	0.01	-19.5156	15.265	0.73654	0.0:0.141:0.859:0.0	.	186	P41250	SYG_HUMAN	K	186	ENSP00000373918:E186K	ENSP00000373918:E186K	E	+	1	0	0	GARS	30607328	30607328	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.757000	0.98924	2.857000	0.98124	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.450618	1	0.170000	NM_002047			77	76		297	294	1		1	1		0	0	54	0		1	1	0	125	0	246	0	77	297
GARS	2617	broad.mit.edu	37	7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	428					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458																																						ENST00000389266.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1282-1284)cGc>cAc		glycyl-tRNA synthetase	Glycine(DB00145)						146.0	137.0	140.0					7																	30656818		1938	4155	6093	SO:0001583	missense	2617	0	0					g.chr7:30656818G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1283G>A	chr7.hg19:g.30656818G>A	ENSP00000373918:p.Arg428His	0						p.R428H	NM_002047.2	NP_002038.2	1	2	3	2.000345	P41250	SYG_HUMAN		10	1524	+			B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	1	1	hg19	c.1283G>A	CCDS43564.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.200674	0.94997	.	.	ENSG00000106105	ENST00000389266	T	0.72051	-0.62	5.22	5.22	0.72569	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89500	0.3763	10	0.87932	D	0	-9.9164	16.6573	0.85232	0.0:0.0:1.0:0.0	.	428	P41250	SYG_HUMAN	H	428	ENSP00000373918:R428H	ENSP00000373918:R428H	R	+	2	0	0	GARS	30623343	30623343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_002047			69	70		310	306	1		1	1		0	0	53	0		1	1	0	202	0	407	0	69	310
CRHR2	1395	broad.mit.edu	37	7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P	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	392					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)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652																																						ENST00000471646.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1174-1176)Tcc>Ccc		corticotropin releasing hormone receptor 2							171.0	153.0	159.0					7																	30693138		2203	4300	6503	SO:0001583	missense	1395	0	0					g.chr7:30693138A>G		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.1174T>C	chr7.hg19:g.30693138A>G	ENSP00000418722:p.Ser392Pro	0					CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	p.S392P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	1	2	3	2.000345	Q13324	CRFR2_HUMAN		12	1591	-			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	1	1	hg19	c.1174T>C	CCDS5429.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725952	0.89298	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46819	0.86;0.99;0.87	4.45	4.45	0.53987	4.45	4.45	0.53987	.	0.057019	0.64402	D	0.000001	T	0.68256	0.2981	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.994;0.987	T	0.72760	-0.4196	10	0.66056	D	0.02	.	12.0233	0.53356	1.0:0.0:0.0:0.0	.	391;419;378;392	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	P	392;419;378	ENSP00000418722:S392P;ENSP00000340943:S419P;ENSP00000344304:S378P	ENSP00000344304:S378P	S	-	1	0	0	CRHR2	30659663	30659663	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.300000	0.96151	1.793000	0.52555	0.378000	0.23410	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000				148	142		600	590	1		1	0		0	0	104	0		1	0	0	0	0	1	0	148	600
INMT	11185	broad.mit.edu	37	7	30793510	30793510	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	ENST00000013222.5	+	2	334	c.318C>A	c.(316-318)gaC>gaA	p.D106E	INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D105E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	106					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)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGCCTATGACTGGACCCCAG	0.572																																						ENST00000013222.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(316-318)gaC>gaA		indolethylamine N-methyltransferase							78.0	86.0	83.0					7																	30793510		2203	4300	6503	SO:0001583	missense	11185	0	0					g.chr7:30793510C>A		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.318C>A	chr7.hg19:g.30793510C>A	ENSP00000013222:p.Asp106Glu	0					INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D105E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E	p.D106E	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	1	2	3	2.000345	O95050	INMT_HUMAN		2	334	+			B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	1	0	hg19	c.318C>A	CCDS5430.1	1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285357	0.59867	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.05649	3.41;3.41	3.69	3.69	0.42338	3.69	3.69	0.42338	.	0.000000	0.64402	D	0.000011	T	0.18635	0.0447	M	0.73372	2.23	0.41786	D	0.989844	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00433	-1.1742	10	0.44086	T	0.13	-26.0641	7.2097	0.25927	0.0:0.8781:0.0:0.1219	.	105;106	B8ZZ69;O95050	.;INMT_HUMAN	E	106;105	ENSP00000013222:D106E;ENSP00000386961:D105E	ENSP00000013222:D106E	D	+	3	2	2	INMT	30760035	30760035	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	2.516000	0.45520	2.043000	0.60533	0.561000	0.74099	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	0	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-20.000000	1	0.170000	NM_006774			132	129		653	635	1		1	0		0	0	143	0		1	9.998899e-01	0	0	0	66	0	132	653
FAM188B	84182	broad.mit.edu	37	7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	411										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458																																						ENST00000265299.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1231-1233)gTa>gCa		family with sequence similarity 188, member B							170.0	167.0	168.0					7																	30876373		2047	4203	6250	SO:0001583	missense	84182	0	0					g.chr7:30876373T>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1232T>C	chr7.hg19:g.30876373T>C	ENSP00000265299:p.Val411Ala	0					INMT-FAM188B_ENST00000458257.1_3'UTR	p.V411A	NM_032222.2	NP_115598.2	1	2	3	2.000345	Q4G0A6	F188B_HUMAN		7	1309	+			Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	1	1	hg19	c.1232T>C	CCDS43565.1	1	.	.	.	.	.	.	.	.	.	.	T	7.292	0.611184	0.14066	.	.	ENSG00000106125	ENST00000265299	T	0.09538	2.97	4.67	2.37	0.29283	4.67	2.37	0.29283	.	0.921018	0.09231	N	0.830597	T	0.09423	0.0232	L	0.44542	1.39	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.35301	-0.9794	10	0.87932	D	0	-1.3325	2.773	0.05340	0.1888:0.1998:0.0:0.6114	.	411	Q4G0A6	F188B_HUMAN	A	411	ENSP00000265299:V411A	ENSP00000265299:V411A	V	+	2	0	0	FAM188B	30842898	30842898	0.028000	0.19301	0.811000	0.32455	0.576000	0.36127	0.479000	0.22228	0.948000	0.37687	0.528000	0.53228	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_032222			99	97		310	302	0		1	1		0	0	121	1		1	9.984165e-01	0	6	0	27	0	99	310
GHRHR	2692	broad.mit.edu	37	7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A	rs201403615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000326139.2	+	11	1116	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Silent_p.P123P|GHRHR_ENST00000409904.3_Missense_Mutation_p.R293H	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGGGCATCCGCCTCCCCCTG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		14801	0.001		0.0	False		,,,				2504	0.0					ENST00000326139.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(1069-1071)cGc>cAc		growth hormone releasing hormone receptor	Sermorelin(DB00010)|Tesamorelin(DB08869)	G	HIS/ARG	0,4406		0,0,2203	48.0	42.0	44.0		1070	5.1	1.0	7		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	GHRHR	NM_000823.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	357/424	31016139	1,13005	2203	4300	6503	SO:0001583	missense	2692	4	121412	31				g.chr7:31016139G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1070G>A	chr7.hg19:g.31016139G>A	ENSP00000320180:p.Arg357His	0					GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R293H|GHRHR_ENST00000409316.1_Silent_p.P123P	p.R357H	NM_000823.3	NP_000814.2	1	2	3	2.000345	Q02643	GHRHR_HUMAN		11	1116	+			Q99863	Missense_Mutation	SNP	ENST00000326139.2	1	1	hg19	c.1070G>A	CCDS5432.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.64	3.668179	0.67814	0.0	1.16E-4	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.46451	0.87;0.87	5.05	5.05	0.67936	5.05	5.05	0.67936	GPCR, family 2-like (1);	.	.	.	.	T	0.47525	0.1450	M	0.62088	1.915	0.80722	D	1	P;D	0.54964	0.856;0.969	B;P	0.46850	0.303;0.529	T	0.54344	-0.8308	9	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	293;357	Q9HB45;Q02643	.;GHRHR_HUMAN	H	357;293	ENSP00000320180:R357H;ENSP00000387113:R293H	ENSP00000320180:R357H	R	+	2	0	0	GHRHR	30982664	30982664	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.069000	0.76755	2.346000	0.79739	0.546000	0.68486	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000				27	27		107	105	1		1	0		0	0	23	0		1	1.103087e-01	0	1	0	2	0	27	107
NEUROD6	63974	broad.mit.edu	37	7	31378244	31378244	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	213					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAGCTCAGGGCTGTGGTAGG	0.527																																						ENST00000297142.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(637-639)agC>agT		neuronal differentiation 6							125.0	97.0	106.0					7																	31378244		2203	4300	6503	SO:0001819	synonymous_variant	63974	1	121412	32				g.chr7:31378244G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.639C>T	chr7.hg19:g.31378244G>A		0						p.S213S	NM_022728.2	NP_073565.2	1	2	3	2.000345	Q96NK8	NDF6_HUMAN		2	961	-			Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	1	1	hg19	c.639C>T	CCDS5434.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_022728			82	80		399	390	1		1			0	0	101	0		1	0	0	0	0	0	0	82	399
NEUROD6	63974	broad.mit.edu	37	7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	139	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTTTTTGGCCAGTCGTAAA	0.458																																						ENST00000297142.3	1.000000	0.190000	5.000000e-01	2.600000e-01	0.360000	0.405148	0.360000	0.350000																										0				32						c.(415-417)Gcc>Acc		neuronal differentiation 6							71.0	75.0	74.0					7																	31378468		2203	4300	6503	SO:0001583	missense	63974	0	0					g.chr7:31378468C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.415G>A	chr7.hg19:g.31378468C>T	ENSP00000297142:p.Ala139Thr	0						p.A139T	NM_022728.2	NP_073565.2	1	2	3	2.000345	Q96NK8	NDF6_HUMAN		2	737	-			Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	1	1	hg19	c.415G>A	CCDS5434.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109882	0.77210	.	.	ENSG00000164600	ENST00000297142	D	0.99422	-5.88	5.25	5.25	0.73442	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.87617	2.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.98231	1.0483	10	0.87932	D	0	-15.8261	18.86	0.92268	0.0:1.0:0.0:0.0	.	139	Q96NK8	NDF6_HUMAN	T	139	ENSP00000297142:A139T	ENSP00000297142:A139T	A	-	1	0	0	NEUROD6	31344993	31344993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.459000	0.83118	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.841672	1	0.170000	NM_022728			12	11		397	383	0		1			0	0	69	0		9.989276e-01	0	0	0	0	0	0	12	397
CCDC129	223075	broad.mit.edu	37	7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000407970.3	+	8	1183	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G290V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483																																						ENST00000407970.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				44						c.(1144-1146)gGa>gTa		coiled-coil domain containing 129							44.0	43.0	43.0					7																	31618023		1994	4171	6165	SO:0001583	missense	223075	0	0					g.chr7:31618023G>T	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.1145G>T	chr7.hg19:g.31618023G>T	ENSP00000384416:p.Gly382Val	0					CCDC129_ENST00000409210.1_Missense_Mutation_p.G290V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000319386.3_Intron	p.G382V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	1	2	3	2.000345	Q6ZRS4	CC129_HUMAN		8	1183	+			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	1	1	hg19	c.1145G>T	CCDS5435.2	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875476	0.51695	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.48;2.48;2.22	5.61	-0.895	0.10560	5.61	-0.895	0.10560	.	.	.	.	.	T	0.11410	0.0278	L	0.34521	1.04	0.21841	N	0.999514	B;B;B	0.20261	0.043;0.043;0.043	B;B;B	0.17433	0.018;0.018;0.018	T	0.36432	-0.9748	8	.	.	.	-7.5263	8.2676	0.31824	0.0886:0.5671:0.269:0.0752	.	408;392;382	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	382;408;392;290	ENSP00000384416:G382V;ENSP00000395835:G408V;ENSP00000387214:G290V	.	G	+	2	0	0	CCDC129	31584548	31584548	0.008000	0.16893	0.007000	0.13788	0.586000	0.36452	0.146000	0.16180	-0.381000	0.07882	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_194300			36	35		179	178	1		1			0	0	37	0		1	0	0	0	0	0	0	36	179
CCDC129	223075	broad.mit.edu	37	7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000407970.3	+	11	1366	c.1328A>C	c.(1327-1329)aAc>aCc	p.N443T	CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T|CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493																																						ENST00000407970.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				44						c.(1327-1329)aAc>aCc		coiled-coil domain containing 129							56.0	50.0	52.0					7																	31682312		2203	4300	6503	SO:0001583	missense	223075	0	0					g.chr7:31682312A>C	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.1328A>C	chr7.hg19:g.31682312A>C	ENSP00000384416:p.Asn443Thr	0					CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T	p.N443T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	1	2	3	2.000345	Q6ZRS4	CC129_HUMAN		11	1366	+			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	1	1	hg19	c.1328A>C	CCDS5435.2	1	.	.	.	.	.	.	.	.	.	.	A	7.414	0.635297	0.14322	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17528	2.38;2.53;2.52;2.27	5.85	1.76	0.24704	5.85	1.76	0.24704	.	0.781097	0.12237	N	0.486848	T	0.06234	0.0161	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.002;0.0;0.0;0.009	B;B;B;B	0.15870	0.004;0.001;0.001;0.014	T	0.43702	-0.9375	10	0.12766	T	0.61	-6.1587	6.3356	0.21294	0.2524:0.1471:0.6005:0.0	.	469;453;443;295	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	295;443;469;453;351	ENSP00000313062:N295T;ENSP00000384416:N443T;ENSP00000395835:N469T;ENSP00000387214:N351T	ENSP00000313062:N295T	N	+	2	0	0	CCDC129	31648837	31648837	0.016000	0.18221	0.194000	0.23346	0.007000	0.05969	0.518000	0.22847	0.405000	0.25532	-0.987000	0.02553	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	0		2	2	2	0		0	0	47		47	44	1	2.060000	-20.000000	1	0.170000	NM_194300			35	35		177	171	1		1			0	0	47	0		1	0	0	0	0	0	0	35	177
CCDC129	223075	broad.mit.edu	37	7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000407970.3	+	11	1375	c.1337G>T	c.(1336-1338)aGt>aTt	p.S446I	CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I|CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493																																						ENST00000407970.3	1.000000	0.680000	1	8.500000e-01	0.990000	0.948421	0.990000	1.000000																										0				44						c.(1336-1338)aGt>aTt		coiled-coil domain containing 129							60.0	54.0	56.0					7																	31682321		2203	4300	6503	SO:0001583	missense	223075	0	0					g.chr7:31682321G>T	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.1337G>T	chr7.hg19:g.31682321G>T	ENSP00000384416:p.Ser446Ile	0					CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I	p.S446I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	1	2	3	2.000345	Q6ZRS4	CC129_HUMAN		11	1375	+			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	1	1	hg19	c.1337G>T	CCDS5435.2	1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976069	0.53720	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29397	1.57;2.17;2.16;1.91	5.85	4.05	0.47172	5.85	4.05	0.47172	.	0.307115	0.28815	N	0.014044	T	0.48502	0.1503	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.70716	0.97;0.868;0.79;0.787	T	0.34229	-0.9837	10	0.87932	D	0	-19.9654	8.1795	0.31302	0.1767:0.0:0.8233:0.0	.	472;456;446;298	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	298;446;472;456;354	ENSP00000313062:S298I;ENSP00000384416:S446I;ENSP00000395835:S472I;ENSP00000387214:S354I	ENSP00000313062:S298I	S	+	2	0	0	CCDC129	31648846	31648846	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	0.635000	0.24629	1.487000	0.48415	0.585000	0.79938	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	0		2	2	2	0		0	0	53		53	50	1	2.060000	-20.000000	1	0.170000	NM_194300			21	19		216	209	0		1			0	0	53	0		9.999972e-01	0	0	0	0	0	0	21	216
CCDC129	223075	broad.mit.edu	37	7	31682385	31682385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000407970.3	+	11	1439	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000319386.3_Silent_p.D319D|CCDC129_ENST00000451887.2_Silent_p.D493D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507																																						ENST00000407970.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1399-1401)gaC>gaT		coiled-coil domain containing 129							86.0	84.0	84.0					7																	31682385		2203	4300	6503	SO:0001819	synonymous_variant	223075	0	0					g.chr7:31682385C>T	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.1401C>T	chr7.hg19:g.31682385C>T		0					CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000319386.3_Silent_p.D319D	p.D467D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	1	2	3	2.000345	Q6ZRS4	CC129_HUMAN		11	1439	+			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	1	1	hg19	c.1401C>T	CCDS5435.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	0		2	2	2	0		0	0	86		86	83	1	2.060000	-20.000000	1	0.170000	NM_194300			70	69		310	305	0		1			0	0	86	0		1	0	0	0	0	0	0	70	310
AVL9	23080	broad.mit.edu	37	7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	266					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458																																						ENST00000318709.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(796-798)aCt>aTt		AVL9 homolog (S. cerevisiase)							89.0	84.0	86.0					7																	32598658		2203	4300	6503	SO:0001583	missense	23080	0	0					g.chr7:32598658C>T	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.797C>T	chr7.hg19:g.32598658C>T	ENSP00000315568:p.Thr266Ile	0					AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	p.T266I	NM_015060.1	NP_055875.1	1	2	3	2.000345	Q8NBF6	AVL9_HUMAN		10	1018	+			Q92573	Missense_Mutation	SNP	ENST00000318709.4	1	1	hg19	c.797C>T	CCDS34613.1	1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063590	0.07273	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46819	0.93;0.93;0.88;0.86	5.21	2.41	0.29592	5.21	2.41	0.29592	.	0.540486	0.20014	N	0.101063	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.24317	0.101;0.009;0.011	B;B;B	0.21917	0.037;0.008;0.009	T	0.26087	-1.0113	10	0.56958	D	0.05	-17.5432	10.5606	0.45144	0.0:0.7882:0.0:0.2118	.	266;266;266	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	266;266;266;266;197	ENSP00000315568:T266I;ENSP00000387011:T266I;ENSP00000385242:T266I;ENSP00000395134:T197I	ENSP00000315568:T266I	T	+	2	0	0	AVL9	32565183	32565183	0.004000	0.15560	0.009000	0.14445	0.005000	0.04900	0.044000	0.13992	0.794000	0.33899	0.591000	0.81541	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_015060			50	49		195	191	1		1	1		0	0	50	0		1	9.999697e-01	0	16	0	48	0	50	195
KBTBD2	25948	broad.mit.edu	37	7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413																																						ENST00000304056.4	1.000000	0.650000	1	7.900000e-01	0.950000	0.912941	0.950000	1.000000																										0				17						c.(649-651)Ctt>Ttt		kelch repeat and BTB (POZ) domain containing 2							107.0	104.0	105.0					7																	32910180		2203	4300	6503	SO:0001583	missense	25948	0	0					g.chr7:32910180G>A	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.649C>T	chr7.hg19:g.32910180G>A	ENSP00000302586:p.Leu217Phe	0					KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	p.L217F	NM_015483.2	NP_056298.2	1	2	3	2.000345	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)	4	1348	-			A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	1	1	hg19	c.649C>T	CCDS34614.1	1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485055	0.26598	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.77489	-1.1	5.72	5.72	0.89469	5.72	5.72	0.89469	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82967	-0.0194	10	0.36615	T	0.2	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	217	Q8IY47	KBTB2_HUMAN	F	217;24	ENSP00000302586:L217F	ENSP00000302586:L217F	L	-	1	0	0	KBTBD2	32876705	32876705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	XM_291224			29	29		336	331	1		1	1		0	0	90	0		1	9.986005e-01	0	13	0	106	0	29	336
BMPER	168667	broad.mit.edu	37	7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	350	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289																																						ENST00000297161.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998682	0.990000	1.000000																										0				48						c.(1048-1050)aGa>aAa		BMP binding endothelial regulator							92.0	88.0	90.0					7																	34101630		2203	4299	6502	SO:0001583	missense	168667	0	0					g.chr7:34101630G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1049G>A	chr7.hg19:g.34101630G>A	ENSP00000297161:p.Arg350Lys	0					BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	p.R350K	NM_133468.4	NP_597725.1	1	2	3	2.000345	Q8N8U9	BMPER_HUMAN		12	1423	+			A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	0	1	hg19	c.1049G>A	CCDS5442.1	1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262841	0.39995	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	6.06	5.18	0.71444	6.06	5.18	0.71444	von Willebrand factor, type C (4);	0.085942	0.85682	N	0.000000	T	0.48804	0.1520	L	0.45228	1.405	0.50813	D	0.999896	B	0.31026	0.304	B	0.26614	0.071	T	0.43861	-0.9365	10	0.05721	T	0.95	.	14.8026	0.69926	0.0684:0.0:0.9316:0.0	.	350	Q8N8U9	BMPER_HUMAN	K	350	ENSP00000297161:R350K;ENSP00000393950:R350K	ENSP00000297161:R350K	R	+	2	0	0	BMPER	34068155	34068155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.324000	0.72896	2.880000	0.98712	0.650000	0.86243	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_133468			16	16		90	89	1		1	0		0	0	15	0		9.999541e-01	2.599388e-02	0	0	0	2	0	16	90
BMPER	168667	broad.mit.edu	37	7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	366	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537																																						ENST00000297161.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1096-1098)gTg>gCg		BMP binding endothelial regulator							70.0	74.0	73.0					7																	34118487		2203	4300	6503	SO:0001583	missense	168667	0	0					g.chr7:34118487T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1097T>C	chr7.hg19:g.34118487T>C	ENSP00000297161:p.Val366Ala	0					BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	p.V366A	NM_133468.4	NP_597725.1	1	2	3	2.000345	Q8N8U9	BMPER_HUMAN		13	1471	+			A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	1	1	hg19	c.1097T>C	CCDS5442.1	1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519696	0.85495	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.63417	-0.04;-0.04	5.97	5.97	0.96955	5.97	5.97	0.96955	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.25245	0.725	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.61618	-0.7026	10	0.15952	T	0.53	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	366	Q8N8U9	BMPER_HUMAN	A	366	ENSP00000297161:V366A;ENSP00000393950:V366A	ENSP00000297161:V366A	V	+	2	0	0	BMPER	34085012	34085012	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_133468			90	89		442	435	1		1	0		0	0	81	0		1	1.369255e-01	0	0	0	4	0	90	442
TBX20	57057	broad.mit.edu	37	7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	188					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368																																						ENST00000408931.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				18						c.(562-564)Gat>Tat		T-box 20							113.0	97.0	102.0					7																	35284653		2203	4300	6503	SO:0001583	missense	57057	0	0					g.chr7:35284653C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.562G>T	chr7.hg19:g.35284653C>A	ENSP00000386170:p.Asp188Tyr	0						p.D188Y	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	1	2	3	2.000345	Q9UMR3	TBX20_HUMAN		4	1088	-			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	1	1	hg19	c.562G>T	CCDS43568.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924360	0.52653	.	.	ENSG00000164532	ENST00000408931	D	0.91521	-2.86	5.19	5.19	0.71726	5.19	5.19	0.71726	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.7096	0.91651	0.0:1.0:0.0:0.0	.	188	Q9UMR3	TBX20_HUMAN	Y	188	ENSP00000386170:D188Y	ENSP00000386170:D188Y	D	-	1	0	0	TBX20	35251178	35251178	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	7.818000	0.86416	2.427000	0.82271	0.491000	0.48974	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_020417			23	23		98	97	1		1			0	0	25	0		9.999997e-01	0	0	0	0	0	0	23	98
TBX20	57057	broad.mit.edu	37	7	35293166	35293166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	22					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657																																						ENST00000408931.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				18						c.(64-66)gcG>gcA		T-box 20							44.0	44.0	44.0					7																	35293166		2203	4300	6503	SO:0001819	synonymous_variant	57057	0	0					g.chr7:35293166C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.66G>A	chr7.hg19:g.35293166C>T		0						p.A22A	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	1	2	3	2.000345	Q9UMR3	TBX20_HUMAN		1	592	-			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	1	1	hg19	c.66G>A	CCDS43568.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_020417			37	38		171	169	1		1			0	0	44	0		1	0	0	0	0	0	0	37	171
EEPD1	80820	broad.mit.edu	37	7	36194638	36194638	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	235					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667																																						ENST00000242108.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(703-705)ccA>ccG		endonuclease/exonuclease/phosphatase family domain containing 1							37.0	41.0	40.0					7																	36194638		2203	4300	6503	SO:0001819	synonymous_variant	80820	0	0					g.chr7:36194638A>G	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.705A>G	chr7.hg19:g.36194638A>G		0					EEPD1_ENST00000534978.1_Silent_p.P235P	p.P235P	NM_030636.2	NP_085139.2	1	2	3	2.000345	Q7L9B9	EEPD1_HUMAN		2	1423	+			Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	1	1	hg19	c.705A>G	CCDS34619.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_030636			43	42		206	201	0		1	1		0	0	45	0		1	9.998781e-01	0	25	0	43	0	43	206
EEPD1	80820	broad.mit.edu	37	7	36324351	36324351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	366					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657																																						ENST00000242108.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1096-1098)gaC>gaT		endonuclease/exonuclease/phosphatase family domain containing 1							69.0	78.0	75.0					7																	36324351		2203	4300	6503	SO:0001819	synonymous_variant	80820	2	121408	37				g.chr7:36324351C>T	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.1098C>T	chr7.hg19:g.36324351C>T		0					EEPD1_ENST00000534978.1_Silent_p.D366D	p.D366D	NM_030636.2	NP_085139.2	1	2	3	2.000345	Q7L9B9	EEPD1_HUMAN		5	1816	+			Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	1	1	hg19	c.1098C>T	CCDS34619.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	1		2	2	2	0		0	0	138		138	133	1	2.060000	-20.000000	1	0.170000	NM_030636			158	158		655	645	0		1	1		0	0	138	0		1	1	0	32	0	113	0	158	655
EEPD1	80820	broad.mit.edu	37	7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T	rs201649550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	453					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21166	0.001		0.0	False		,,,				2504	0.0					ENST00000242108.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1357-1359)Cca>Tca		endonuclease/exonuclease/phosphatase family domain containing 1							106.0	102.0	103.0					7																	36336643		2203	4300	6503	SO:0001583	missense	80820	0	0					g.chr7:36336643C>T	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.1357C>T	chr7.hg19:g.36336643C>T	ENSP00000242108:p.Pro453Ser	0					EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	p.P453S	NM_030636.2	NP_085139.2	1	2	3	2.000345	Q7L9B9	EEPD1_HUMAN		7	2075	+			Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	1	1	hg19	c.1357C>T	CCDS34619.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.646501	0.67358	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95788	-3.81;-3.81	5.09	5.09	0.68999	5.09	5.09	0.68999	Endonuclease/exonuclease/phosphatase (2);	0.107611	0.64402	D	0.000004	D	0.95934	0.8676	L	0.59436	1.845	0.58432	D	0.999998	P	0.52692	0.955	P	0.54889	0.763	D	0.95557	0.8626	10	0.54805	T	0.06	-11.2339	14.9567	0.71120	0.0:0.8572:0.1428:0.0	.	453	Q7L9B9	EEPD1_HUMAN	S	453	ENSP00000242108:P453S;ENSP00000442692:P453S	ENSP00000242108:P453S	P	+	1	0	0	EEPD1	36303168	36303168	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.650000	0.61440	2.759000	0.94783	0.555000	0.69702	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.447102	1	0.170000	NM_030636			51	51		200	195	1		1	1		0	0	64	0		1	9.999997e-01	0	21	0	73	0	51	200
KIAA0895	23366	broad.mit.edu	37	7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000297063.6	-	6	1447	c.1397T>G	c.(1396-1398)cTc>cGc	p.L466R	KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000480192.1_5'Flank|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463																																						ENST00000297063.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1396-1398)cTc>cGc		KIAA0895							122.0	116.0	118.0					7																	36370598		1938	4137	6075	SO:0001583	missense	23366	0	0					g.chr7:36370598A>C	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.1397T>G	chr7.hg19:g.36370598A>C	ENSP00000297063:p.Leu466Arg	0					KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000480192.1_5'Flank|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R	p.L466R	NM_001100425.1	NP_001093895.1	1	2	3	2.000345	Q8NCT3	K0895_HUMAN		6	1447	-			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	1	1	hg19	c.1397T>G	CCDS43570.1	1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368208	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.067296	0.64402	D	0.000009	T	0.77857	0.4193	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D	0.76494	0.738;0.997;0.999;0.999;0.999	B;D;D;D;D	0.75020	0.289;0.966;0.985;0.956;0.956	T	0.80677	-0.1276	9	0.87932	D	0	3.9199	15.4939	0.75634	1.0:0.0:0.0:0.0	.	463;363;466;453;415	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	R	466;453;415;463;363;221	.	ENSP00000297063:L466R	L	-	2	0	0	KIAA0895	36337123	36337123	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	8.438000	0.90305	2.243000	0.73865	0.482000	0.46254	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_015314			69	69		320	313	1		1	1		0	0	85	0		1	7.002548e-01	0	4	0	9	0	69	320
KIAA0895	23366	broad.mit.edu	37	7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000297063.6	-	5	1341	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413																																						ENST00000297063.6	1.000000	0.590000	1	7.200000e-01	0.870000	0.863305	0.870000	1.000000																										0				26						c.(1291-1293)Gat>Tat		KIAA0895							87.0	87.0	87.0					7																	36373480		1889	4114	6003	SO:0001583	missense	23366	0	0					g.chr7:36373480C>A	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.1291G>T	chr7.hg19:g.36373480C>A	ENSP00000297063:p.Asp431Tyr	0					KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y	p.D431Y	NM_001100425.1	NP_001093895.1	1	2	3	2.000345	Q8NCT3	K0895_HUMAN		5	1341	-			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	1	1	hg19	c.1291G>T	CCDS43570.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604059	0.87157	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.958;0.933	D	0.85507	0.1195	9	0.87932	D	0	-21.055	18.7786	0.91922	0.0:1.0:0.0:0.0	.	428;328;431;418;380	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Y	431;418;380;428;328;186	.	ENSP00000297063:D431Y	D	-	1	0	0	KIAA0895	36340005	36340005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.515000	0.84797	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-8.414128	1	0.170000	NM_015314			28	28		357	353	0		1	1		0	0	101	0		1	5.609480e-01	0	4	0	21	0	28	357
ANLN	54443	broad.mit.edu	37	7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A	rs188228038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	285	Interaction with F-actin.				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)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418																																						ENST00000265748.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(853-855)Gcc>Acc		anillin, actin binding protein							236.0	227.0	230.0					7																	36446155		2203	4300	6503	SO:0001583	missense	54443	0	0					g.chr7:36446155G>A	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.853G>A	chr7.hg19:g.36446155G>A	ENSP00000265748:p.Ala285Thr	0					ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	p.A285T	NM_018685.2	NP_061155.2	1	2	3	2.000345	Q9NQW6	ANLN_HUMAN		4	1074	+			Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	1	1	hg19	c.853G>A	CCDS5447.1	1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317863	0.40996	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04970	3.52;3.52	4.2	4.2	0.49525	4.2	4.2	0.49525	.	1.274390	0.04880	N	0.447517	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18013	0.025;0.004;0.008;0.004	B;B;B;B	0.18561	0.022;0.005;0.011;0.005	T	0.38286	-0.9668	10	0.15952	T	0.53	-0.0437	12.2415	0.54544	0.0:0.0:0.7926:0.2074	.	162;285;285;285	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	285	ENSP00000265748:A285T;ENSP00000379380:A285T	ENSP00000265748:A285T	A	+	1	0	0	ANLN	36412680	36412680	0.149000	0.22717	0.010000	0.14722	0.936000	0.57629	3.623000	0.54224	2.634000	0.89283	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1		2	2	2	0		0	0	191		191	191	1	2.060000	-20.000000	1	0.170000	NM_018685			202	199		958	941	1		1	0		0	0	191	0		1	9.932801e-01	0	0	0	38	0	202	958
ANLN	54443	broad.mit.edu	37	7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	871	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)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294																																						ENST00000265748.2	1.000000	0.800000	1	9.900000e-01	0.990000	0.986154	0.990000	1.000000																										0				45						c.(2611-2613)Gta>Ata		anillin, actin binding protein							59.0	63.0	62.0					7																	36464161		2203	4297	6500	SO:0001583	missense	54443	0	0					g.chr7:36464161G>A	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.2611G>A	chr7.hg19:g.36464161G>A	ENSP00000265748:p.Val871Ile	0					ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	p.V871I	NM_018685.2	NP_061155.2	1	2	3	2.000345	Q9NQW6	ANLN_HUMAN		16	2832	+			Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	1	1	hg19	c.2611G>A	CCDS5447.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.811120|4.811120|4.811120	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000446635;ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.39997	.|.|1.05;1.05	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.59742|0.59742|0.59742	0.2216|0.2216|0.2216	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;P;P	.|.|0.89917	.|.|1.0;0.937;0.923;0.937	.|.|D;P;P;P	.|.|0.87578	.|.|0.998;0.705;0.58;0.705	T|T|T	0.54268|0.54268|0.54268	-0.8319|-0.8319|-0.8319	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	-13.8711|-13.8711|-13.8711	18.6005|18.6005|18.6005	0.91247|0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|748;833;834;871	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Y|I|I	35|224;74|871;834	.|.|ENSP00000265748:V871I;ENSP00000379380:V834I	.|.|ENSP00000265748:V871I	C|M|V	+|+|+	2|3|1	0|0|0	0|0|0	ANLN|ANLN|ANLN	36430686|36430686|36430686	36430686|36430686|36430686	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	6.776000|6.776000|6.776000	0.75023|0.75023|0.75023	2.741000|2.741000|2.741000	0.93983|0.93983|0.93983	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TGT|ATG|GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-8.634480	1	0.170000	NM_018685			15	15		117	115	1		1	1		0	0	46	0		9.998927e-01	9.867095e-01	0	13	0	46	0	15	117
ANLN	54443	broad.mit.edu	37	7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1080	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393																																						ENST00000265748.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3238-3240)Ctc>Atc		anillin, actin binding protein							85.0	79.0	81.0					7																	36489433		2203	4300	6503	SO:0001583	missense	54443	0	0					g.chr7:36489433C>A	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.3238C>A	chr7.hg19:g.36489433C>A	ENSP00000265748:p.Leu1080Ile	0					ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	p.L1080I	NM_018685.2	NP_061155.2	1	2	3	2.000345	Q9NQW6	ANLN_HUMAN		23	3459	+			Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	1	1	hg19	c.3238C>A	CCDS5447.1	1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911644	0.72983	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13538	2.58;2.6	5.37	5.37	0.77165	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121557	0.56097	D	0.000025	T	0.26702	0.0653	N	0.25890	0.77	0.54753	D	0.999981	D;P;P;P	0.67145	0.996;0.631;0.577;0.631	D;P;B;P	0.80764	0.994;0.579;0.443;0.579	T	0.01301	-1.1391	10	0.44086	T	0.13	-8.1585	18.4774	0.90798	0.0:1.0:0.0:0.0	.	957;1042;1043;1080	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	I	1080;1043	ENSP00000265748:L1080I;ENSP00000379380:L1043I	ENSP00000265748:L1080I	L	+	1	0	0	ANLN	36455958	36455958	0.906000	0.30813	0.923000	0.36655	0.973000	0.67179	1.935000	0.40173	2.665000	0.90641	0.655000	0.94253	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_018685			58	58		228	226	1		1	1		0	0	53	0		1	9.999998e-01	0	54	0	39	0	58	228
AOAH	313	broad.mit.edu	37	7	36763722	36763722	+	Missense_Mutation	SNP	G	G	A	rs144897559	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36763722G>A	ENST00000258749.5	-	1	431	c.32C>T	c.(31-33)gCg>gTg	p.A11V	AOAH_ENST00000535891.1_Missense_Mutation_p.A11V|AOAH_ENST00000431169.1_Missense_Mutation_p.A11V	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	11					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)			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						GAATAGAGGCGCCACCGTAAG	0.582													G|||	21	0.00419329	0.0	0.0159	5008	,	,		15662	0.0		0.0099	False		,,,				2504	0.0					ENST00000258749.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				41						c.(31-33)gCg>gTg		acyloxyacyl hydrolase (neutrophil)		G	VAL/ALA,VAL/ALA,VAL/ALA	3,4403	4.2+/-10.8	0,3,2200	69.0	76.0	73.0		32,32,32	1.0	0.0	7	dbSNP_134	73	42,8558	28.5+/-78.6	0,42,4258	yes	missense,missense,missense	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	64,64,64	0,45,6458	AA,AG,GG		0.4884,0.0681,0.346	benign,benign,benign	11/689,11/544,11/576	36763722	45,12961	2203	4300	6503	SO:0001583	missense	313	346	121410	57				g.chr7:36763722G>A	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.32C>T	chr7.hg19:g.36763722G>A	ENSP00000258749:p.Ala11Val	0					AOAH_ENST00000431169.1_Missense_Mutation_p.A11V|AOAH_ENST00000535891.1_Missense_Mutation_p.A11V	p.A11V	NM_001637.3	NP_001628.1	1	2	3	2.000345	P28039	AOAH_HUMAN		1	431	-			A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	1	0	hg19	c.32C>T	CCDS5448.1	1	11	0.005036630036630037	0	0.0	7	0.019337016574585635	0	0.0	4	0.005277044854881266	G	7.460	0.644403	0.14451	6.81E-4	0.004884	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647;ENST00000435386	T;T;T;T	0.79554	1.6;-1.16;-1.28;0.61	4.01	1.04	0.20106	4.01	1.04	0.20106	.	0.711311	0.11943	N	0.514456	T	0.51941	0.1704	.	.	.	0.09310	N	1	B;B;B	0.18968	0.001;0.032;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.50499	-0.8821	9	0.46703	T	0.11	-12.918	5.7529	0.18156	0.3858:0.0:0.6142:0.0	.	11;11;11	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	V	11	ENSP00000441101:A11V;ENSP00000258749:A11V;ENSP00000405683:A11V;ENSP00000416051:A11V	ENSP00000258749:A11V	A	-	2	0	0	AOAH	36730247	36730247	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.007000	0.29860	0.086000	0.17137	-0.143000	0.13931	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	0	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.857613	1	0.170000	NM_001637			42	42		232	228	1		1	0		0	0	57	0		1	9.992719e-01	0	0	0	63	0	42	232
ELMO1	9844	broad.mit.edu	37	7	36895162	36895162	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	ENST00000310758.4	-	22	2825	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000442504.1_Silent_p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	726					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)			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						CACTTCAGTTACAGTCATAGA	0.542																																						ENST00000310758.4	1.000000	0.290000	5.900000e-01	3.700000e-01	0.460000	0.498494	0.460000	0.460000																										0				58						c.(2176-2178)tgT>tgC		engulfment and cell motility 1							112.0	114.0	113.0					7																	36895162		2203	4300	6503	SO:0001819	synonymous_variant	9844	0	0					g.chr7:36895162A>G	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.2178T>C	chr7.hg19:g.36895162A>G		0					ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396045.3_Silent_p.C246C	p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	1	2	3	2.000345	Q92556	ELMO1_HUMAN		22	2825	-			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	1	1	hg19	c.2178T>C	CCDS5449.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	0	0	1		2	2	2	0		0	0	143		143	143	1	2.060000	-4.231640	1	0.170000	NM_130442			23	22		576	561	0		1	0		0	0	143	0		9.999991e-01	7.146833e-01	0	0	0	64	0	23	576
ELMO1	9844	broad.mit.edu	37	7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	654	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)			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						AGGAGCGATGAAGTTCAGTTG	0.388																																						ENST00000310758.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1960-1962)tTc>tGc		engulfment and cell motility 1							175.0	169.0	171.0					7																	36901286		2203	4300	6503	SO:0001583	missense	9844	0	0					g.chr7:36901286A>C	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.1961T>G	chr7.hg19:g.36901286A>C	ENSP00000312185:p.Phe654Cys	0					ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C	p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	1	2	3	2.000345	Q92556	ELMO1_HUMAN		21	2608	-			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	1	1	hg19	c.1961T>G	CCDS5449.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516722	0.85495	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	P	0.59643	0.861	D	0.84087	0.0388	10	0.66056	D	0.02	.	15.7652	0.78120	1.0:0.0:0.0:0.0	.	654	Q92556	ELMO1_HUMAN	C	356;174;654;558;174;654;654	ENSP00000342142:F356C;ENSP00000379360:F174C;ENSP00000312185:F654C;ENSP00000379355:F174C;ENSP00000406952:F654C;ENSP00000394458:F654C	ENSP00000312185:F654C	F	-	2	0	0	ELMO1	36867811	36867811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1		2	2	2	0		0	0	223		223	221	1	2.060000	-20.000000	1	0.170000	NM_130442			156	153		621	615	1		1	0		0	0	223	0		1	9.995711e-01	0	0	0	47	0	156	621
ELMO1	9844	broad.mit.edu	37	7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V|ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	194					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)			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						GATCGAGATGTCTATGGCTGA	0.502																																						ENST00000310758.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				58						c.(580-582)gAc>gTc		engulfment and cell motility 1							105.0	90.0	95.0					7																	37264604		2203	4300	6503	SO:0001583	missense	9844	0	0					g.chr7:37264604T>A	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.581A>T	chr7.hg19:g.37264604T>A	ENSP00000312185:p.Asp194Val	0					ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	1	2	3	2.000345	Q92556	ELMO1_HUMAN		9	1228	-			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	1	1	hg19	c.581A>T	CCDS5449.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627058	0.87560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.56275	0.47;0.47;0.47	5.4	5.4	0.78164	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76926	-0.2778	10	0.72032	D	0.01	.	15.7355	0.77839	0.0:0.0:0.0:1.0	.	194	Q92556	ELMO1_HUMAN	V	194;98;194;194	ENSP00000312185:D194V;ENSP00000406952:D194V;ENSP00000394458:D194V	ENSP00000312185:D194V	D	-	2	0	0	ELMO1	37231129	37231129	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	8.036000	0.88901	2.175000	0.68902	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_130442			34	33		183	178	1		1	0		0	0	55	0		1	9.693211e-01	0	0	0	33	0	34	183
GPR141	353345	broad.mit.edu	37	7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R48R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488																																						ENST00000447769.1	1.000000	0.210000	5.200000e-01	2.900000e-01	0.380000	0.425146	0.380000	0.370000																										1	Substitution - coding silent(1)	p.R48R(1)	lung(1)	32						c.(142-144)Cgg>Tgg		G protein-coupled receptor 141							101.0	104.0	103.0					7																	37780137		2203	4300	6503	SO:0001583	missense	353345	1	121412	31				g.chr7:37780137C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.142C>T	chr7.hg19:g.37780137C>T	ENSP00000390410:p.Arg48Trp	0					GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W	p.R48W			1	2	3	2.000345	Q7Z602	GP141_HUMAN		4	431	+			A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	1	1	hg19	c.142C>T	CCDS5451.1	0	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346981	0.41599	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.45276	0.9;0.9;0.9	5.18	3.17	0.36434	5.18	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.403678	0.24384	N	0.038998	T	0.33818	0.0876	M	0.68952	2.095	0.09310	N	1	P	0.49090	0.919	B	0.37833	0.259	T	0.24728	-1.0152	10	0.30854	T	0.27	-16.3663	7.0848	0.25252	0.3405:0.5746:0.0:0.0849	.	48	Q7Z602	GP141_HUMAN	W	48	ENSP00000396300:R48W;ENSP00000390410:R48W;ENSP00000334540:R48W	ENSP00000334540:R48W	R	+	1	2	2	GPR141	37746662	37746662	0.010000	0.17322	0.979000	0.43373	0.993000	0.82548	0.413000	0.21148	1.249000	0.43950	0.650000	0.86243	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-2.473695	0	0.170000	NM_181791			14	14		433	429	0		1	0		0	0	78	0		9.997428e-01	4.358281e-02	0	0	0	10	0	14	433
SFRP4	6424	broad.mit.edu	37	7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	74	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637																																						ENST00000436072.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999262	0.990000	1.000000																										0				29						c.(220-222)Cgc>Tgc		secreted frizzled-related protein 4							146.0	116.0	126.0					7																	37955920		2203	4300	6503	SO:0001583	missense	6424	1	121412	32				g.chr7:37955920G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.220C>T	chr7.hg19:g.37955920G>A	ENSP00000410715:p.Arg74Cys	0					EPDR1_ENST00000476620.1_Intron	p.R74C	NM_003014.3	NP_003005.2	1	2	3	2.000345	Q6FHJ7	SFRP4_HUMAN		1	597	-			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	1	1	hg19	c.220C>T	CCDS5453.1	1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922280	0.73213	.	.	ENSG00000106483	ENST00000436072	T	0.76839	-1.05	4.36	4.36	0.52297	4.36	4.36	0.52297	Frizzled domain (5);	0.129212	0.53938	D	0.000042	D	0.85383	0.5684	M	0.78801	2.425	0.41915	D	0.990483	D	0.69078	0.997	P	0.61592	0.891	D	0.87268	0.2284	10	0.66056	D	0.02	.	12.3128	0.54938	0.0:0.1722:0.8278:0.0	.	74	Q6FHJ7	SFRP4_HUMAN	C	74	ENSP00000410715:R74C	ENSP00000410715:R74C	R	-	1	0	0	SFRP4	37922445	37922445	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.048000	0.49862	2.251000	0.74343	0.650000	0.86243	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_003014			39	38		285	282	1		1	0		0	0	68	0		1	1	0	0	0	357	0	39	285
EPDR1	54749	broad.mit.edu	37	7	37988649	37988649	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.477C>A	c.(475-477)tcC>tcA	p.S159S	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Splice_Site_p.S279S|EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000476620.1_Splice_Site_p.S57S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	159					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463																																						ENST00000199448.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(475-477)tcC>tcA		ependymin related 1							53.0	55.0	54.0					7																	37988649		2203	4300	6503	SO:0001630	splice_region_variant	54749	0	0					g.chr7:37988649C>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.478+1C>A	chr7.hg19:g.37988649C>A		0					EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57S|EPDR1_ENST00000559325.1_Splice_Site_p.S279S	p.S159S	NM_017549.4	NP_060019.2	1	2	3	2.000345	Q9UM22	EPDR1_HUMAN		2	856	+			A8K4C0|C9JYS3|Q06BL0|Q99M77	Splice_Site	SNP	ENST00000199448.4	1	0	hg19	c.477C>A	CCDS5454.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.533761	1	0.170000	NM_017549	Silent		66	63		252	244	0		1	0		0	0	57	0		1	9.999963e-01	0	0	0	73	0	66	252
STARD3NL	83930	broad.mit.edu	37	7	38254645	38254645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	ENST00000009041.7	+	4	577	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	107	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GCAGTTTTTCGATTTAAAGTG	0.403																																						ENST00000009041.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(319-321)cGa>cAa		STARD3 N-terminal like							117.0	105.0	109.0					7																	38254645		2203	4300	6503	SO:0001583	missense	83930	1	121394	26				g.chr7:38254645G>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.320G>A	chr7.hg19:g.38254645G>A	ENSP00000009041:p.Arg107Gln	0					STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	p.R107Q	NM_032016.3	NP_114405.1	1	2	3	2.000345	O95772	MENTO_HUMAN		4	577	+			A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	1	1	hg19	c.320G>A	CCDS5455.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.193617	0.94960	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.06	0.68205	5.94	5.06	0.68205	MENTAL domain (2);	0.055444	0.64402	N	0.000001	T	0.81772	0.4893	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85473	0.1174	10	0.87932	D	0	-3.4597	13.9587	0.64166	0.0737:0.0:0.9263:0.0	.	107;107	C9JKL2;O95772	.;MENTO_HUMAN	Q	107;100;107;107;107;107;107	ENSP00000009041:R107Q;ENSP00000439436:R100Q;ENSP00000394000:R107Q;ENSP00000379334:R107Q;ENSP00000411933:R107Q;ENSP00000395455:R107Q;ENSP00000402028:R107Q	ENSP00000009041:R107Q	R	+	2	0	0	STARD3NL	38221170	38221170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.428000	0.97476	1.514000	0.48869	0.643000	0.83706	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000				49	49		216	215	0		1	1		0	0	45	0		1	9.999999e-01	0	22	0	89	0	49	216
AMPH	273	broad.mit.edu	37	7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	361					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)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433																																						ENST00000356264.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				62						c.(1081-1083)cCc>cTc		amphiphysin							85.0	76.0	79.0					7																	38475924		2203	4300	6503	SO:0001583	missense	273	0	0					g.chr7:38475924G>A		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.1082C>T	chr7.hg19:g.38475924G>A	ENSP00000348602:p.Pro361Leu	0					AMPH_ENST00000428293.2_Missense_Mutation_p.P361L|AMPH_ENST00000325590.5_Missense_Mutation_p.P361L	p.P361L	NM_001635.3	NP_001626.1	1	2	3	2.000345	P49418	AMPH_HUMAN		12	1297	-			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	1	1	hg19	c.1082C>T	CCDS5456.1	1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	4.65	0.58169	5.54	4.65	0.58169	.	0.185220	0.47852	D	0.000205	D	0.82453	0.5040	M	0.70275	2.135	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.903	D;D;B	0.91635	0.999;0.999;0.351	D	0.83511	0.0080	10	0.56958	D	0.05	-7.7829	14.7794	0.69754	0.0705:0.0:0.9295:0.0	.	361;361;117	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	361;361;361;131;364	ENSP00000317441:P361L;ENSP00000348602:P361L;ENSP00000390734:P361L	ENSP00000317441:P361L	P	-	2	0	0	AMPH	38442449	38442449	1.000000	0.71417	0.961000	0.40146	0.733000	0.41908	5.157000	0.64911	2.609000	0.88269	0.655000	0.94253	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001635			37	37		181	177	1		1	0		0	0	52	0		1	2.093595e-01	0	0	0	5	0	37	181
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T	rs368302578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					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.A287T(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						CGTGCTGGTGCGGGAGACGCA	0.547																																						ENST00000356264.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A287T(1)	lung(1)	62						c.(859-861)Gca>Aca		amphiphysin		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	160.0	150.0	153.0		859,859	5.3	1.0	7		153	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/696,287/654	38502604	1,13005	2203	4300	6503	SO:0001583	missense	273	1	121380	39				g.chr7:38502604C>T		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.859G>A	chr7.hg19:g.38502604C>T	ENSP00000348602:p.Ala287Thr	0					AMPH_ENST00000428293.2_Missense_Mutation_p.A287T|AMPH_ENST00000325590.5_Missense_Mutation_p.A287T	p.A287T	NM_001635.3	NP_001626.1	1	2	3	2.000345	P49418	AMPH_HUMAN		10	1074	-			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	1	1	hg19	c.859G>A	CCDS5456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	0|0	AMPH|AMPH	38469129|38469129	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-3.104909	1	0.170000	NM_001635			105	102		465	453	1		1	0		0	0	98	0		1	6.783516e-01	0	0	0	12	0	105	465
AMPH	273	broad.mit.edu	37	7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	65	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378																																						ENST00000356264.2	1.000000	0.570000	1	6.800000e-01	0.820000	0.829192	0.820000	1.000000																										0				62						c.(193-195)Gca>Tca		amphiphysin							229.0	191.0	204.0					7																	38543262		2203	4300	6503	SO:0001583	missense	273	0	0					g.chr7:38543262C>A		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.193G>T	chr7.hg19:g.38543262C>A	ENSP00000348602:p.Ala65Ser	0					AMPH_ENST00000428293.2_Missense_Mutation_p.A65S|AMPH_ENST00000325590.5_Missense_Mutation_p.A65S	p.A65S	NM_001635.3	NP_001626.1	1	2	3	2.000345	P49418	AMPH_HUMAN		3	408	-			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	1	1	hg19	c.193G>T	CCDS5456.1	0	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089838	0.55968	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.62639	0.01;0.01;0.01	5.92	5.04	0.67666	5.92	5.04	0.67666	BAR (3);	0.184681	0.47455	D	0.000226	T	0.57051	0.2027	L	0.36672	1.1	0.44485	D	0.997425	B;B	0.25850	0.054;0.136	B;B	0.39531	0.139;0.302	T	0.50516	-0.8819	10	0.15499	T	0.54	-13.998	12.5297	0.56106	0.0:0.9217:0.0:0.0783	.	65;65	P49418-2;P49418	.;AMPH_HUMAN	S	65	ENSP00000317441:A65S;ENSP00000348602:A65S;ENSP00000390734:A65S	ENSP00000317441:A65S	A	-	1	0	0	AMPH	38509787	38509787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	1.513000	0.48852	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-8.299122	1	0.170000	NM_001635			32	31		433	417	0		1	0		0	0	94	0		1	2.604201e-01	0	0	0	14	0	32	433
CDK13	8621	broad.mit.edu	37	7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	RP11-467D6.1_ENST00000569710.1_RNA|CDK13_ENST00000340829.5_Missense_Mutation_p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	400					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662																																						ENST00000181839.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				49						c.(1198-1200)aGc>aTc		cyclin-dependent kinase 13							44.0	32.0	36.0					7																	39991439		1996	3992	5988	SO:0001583	missense	8621	0	0					g.chr7:39991439G>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1199G>T	chr7.hg19:g.39991439G>T	ENSP00000181839:p.Ser400Ile	0					CDK13_ENST00000340829.5_Missense_Mutation_p.S400I|RP11-467D6.1_ENST00000569710.1_RNA	p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	1	2	3	2.000345	Q14004	CDK13_HUMAN		1	1804	+			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	1	1	hg19	c.1199G>T	CCDS5461.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179393	0.38511	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	4.8	4.8	0.61643	4.8	4.8	0.61643	.	.	.	.	.	T	0.66954	0.2842	L	0.36672	1.1	0.54753	D	0.999985	P;P	0.47677	0.899;0.838	P;P	0.51355	0.667;0.466	T	0.65134	-0.6242	8	.	.	.	-1.6856	16.4026	0.83647	0.0:0.0:1.0:0.0	.	400;400	Q14004-2;Q14004	.;CDK13_HUMAN	I	400	ENSP00000181839:S400I;ENSP00000340557:S400I	.	S	+	2	0	0	CDK13	39957964	39957964	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	7.157000	0.77461	2.343000	0.79666	0.563000	0.77884	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_003718			46	45		273	268	1		1	1		0	0	54	0		1	9.957213e-01	0	16	0	36	0	46	273
SUGCT	79783	broad.mit.edu	37	7	40234621	40234621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	ENST00000335693.4	+	6	490	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000309930.5_Missense_Mutation_p.D156A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		156					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGATATAGACGAGATTGCT	0.433																																						ENST00000335693.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(466-468)gAc>gCc									240.0	240.0	240.0					7																	40234621		1942	4139	6081	SO:0001583	missense	0	0	0					g.chr7:40234621A>C																												ENST00000335693.4:c.467A>C	chr7.hg19:g.40234621A>C	ENSP00000338475:p.Asp156Ala	0					C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A|C7orf10_ENST00000309930.5_Missense_Mutation_p.D156A	p.D156A	NM_001193313.1	NP_001180242.1	1	2	3	2.000345	Q9HAC7	SUCHY_HUMAN		6	490	+			A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	1	1	hg19	c.467A>C	CCDS55105.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	11.23|11.23|11.23	1.578858|1.578858|1.578858	0.28180|0.28180|0.28180	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	T;T;T;T|.|.	0.51817|.|.	0.69;0.69;0.69;0.69|.|.	5.76|5.76|5.76	4.59|4.59|4.59	0.56863|0.56863|0.56863	5.76|5.76|5.76	4.59|4.59|4.59	0.56863|0.56863|0.56863	CoA-transferase family III domain (2);|.|.	0.624559|.|.	0.18514|.|.	N|.|.	0.138967|.|.	T|T|T	0.09905|0.09905|0.09905	0.0243|0.0243|0.0243	N|N|N	0.00395|0.00395|0.00395	-1.55|-1.55|-1.55	0.31603|0.31603|0.31603	N|N|N	0.652456|0.652456|0.652456	B;B|.|.	0.11235|.|.	0.004;0.001|.|.	B;B|.|.	0.17098|.|.	0.017;0.017|.|.	T|T|T	0.09143|0.09143|0.09143	-1.0688|-1.0688|-1.0688	10|5|5	0.44086|.|.	T|.|.	0.13|.|.	-7.9835|-7.9835|-7.9835	11.2341|11.2341|11.2341	0.48929|0.48929|0.48929	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.|.	156;156|.|.	Q4KMW8;Q9HAC7|.|.	.;CG010_HUMAN|.|.	A|S|P	156;156;156;149|167|151	ENSP00000312054:D156A;ENSP00000385222:D156A;ENSP00000338475:D156A;ENSP00000445521:D149A|.|.	ENSP00000312054:D156A|.|.	D|R|T	+|+|+	2|3|1	0|2|0	0|2|0	C7orf10|C7orf10|C7orf10	40201146|40201146|40201146	40201146|40201146|40201146	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.322000|3.322000|3.322000	0.52007|0.52007|0.52007	2.192000|2.192000|2.192000	0.70111|0.70111|0.70111	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAC|AGA|ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000				139	132		695	681	1		1	1		0	0	162	0		1	8.856826e-01	0	2	0	19	0	139	695
SUGCT	79783	broad.mit.edu	37	7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000335693.4	+	11	939	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y|C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		306					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353																																						ENST00000335693.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				18						c.(916-918)Gat>Tat									44.0	44.0	44.0					7																	40498706		1802	4066	5868	SO:0001583	missense	0	2	120752	27				g.chr7:40498706G>T																												ENST00000335693.4:c.916G>T	chr7.hg19:g.40498706G>T	ENSP00000338475:p.Asp306Tyr	0					C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y	p.D306Y	NM_001193313.1	NP_001180242.1	1	2	3	2.000345	Q9HAC7	SUCHY_HUMAN		11	939	+			A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	1	1	hg19	c.916G>T	CCDS55105.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071975|2.071975	0.36566|0.36566	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.86694|.	-2.16;0.57;0.57|.	5.27|5.27	4.05|4.05	0.47172|0.47172	5.27|5.27	4.05|4.05	0.47172|0.47172	CoA-transferase family III domain (2);|.	0.510359|.	0.22065|.	N|.	0.065115|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33288|.	0.112;0.099;0.406|.	B;B;B|.	0.39738|.	0.106;0.106;0.308|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.87932|.	D|.	0|.	-7.2111|-7.2111	6.9227|6.9227	0.24397|0.24397	0.8767:0.0:0.1233:0.0|0.8767:0.0:0.1233:0.0	.|.	258;306;269|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	Y|C	306;258;306|300	ENSP00000312054:D306Y;ENSP00000385222:D258Y;ENSP00000338475:D306Y|.	ENSP00000312054:D306Y|.	D|W	+|+	1|3	0|0	0|0	C7orf10|C7orf10	40465231|40465231	40465231|40465231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.635000|2.635000	0.46537|0.46537	0.856000|0.856000	0.35383|0.35383	-0.345000|-0.345000	0.07892|0.07892	GAT|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				26	26		131	128	0		1	1		0	0	35	0		1	9.628486e-01	0	2	0	28	0	26	131
GLI3	2737	broad.mit.edu	37	7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1190					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(3568-3570)Gcc>Acc		GLI family zinc finger 3							63.0	77.0	72.0					7																	42005103		2203	4300	6503	SO:0001583	missense	2737	0	0		Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	g.chr7:42005103C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3568G>A	chr7.hg19:g.42005103C>T	ENSP00000379258:p.Ala1190Thr	0					GLI3_ENST00000479210.1_5'UTR	p.A1190T	NM_000168.5	NP_000159.3	1	2	3	2.000345	P10071	GLI3_HUMAN		15	3652	-			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	1	1	hg19	c.3568G>A	CCDS5465.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693048	0.48202	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.152938	0.64402	D	0.000016	T	0.10981	0.0268	L	0.38175	1.15	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.07908	-1.0748	10	0.02654	T	1	.	9.4972	0.38995	0.0:0.7812:0.1441:0.0747	.	1190	P10071	GLI3_HUMAN	T	1190	ENSP00000379258:A1190T	ENSP00000379258:A1190T	A	-	1	0	0	GLI3	41971628	41971628	0.170000	0.23016	0.039000	0.18376	0.212000	0.24457	0.601000	0.24119	2.610000	0.88304	0.563000	0.77884	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	0		2	2	2	0		0	0	125		125	123	1	2.060000	-20.000000	1	0.170000	NM_000168			175	172		653	644	1		1	0		0	0	125	0		1	5.299545e-01	0	0	0	8	0	175	653
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					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.R1182W(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						ACAGCGGGCCGCGGCCCACAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1182W(1)	large_intestine(1)	112						c.(3544-3546)Cgg>Tgg		GLI family zinc finger 3							71.0	86.0	81.0					7																	42005127		2203	4297	6500	SO:0001583	missense	2737	0	0		Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	g.chr7:42005127G>A		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.3544C>T	chr7.hg19:g.42005127G>A	ENSP00000379258:p.Arg1182Trp	0					GLI3_ENST00000479210.1_5'UTR	p.R1182W	NM_000168.5	NP_000159.3	1	2	3	2.000345	P10071	GLI3_HUMAN		15	3628	-			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	1	1	hg19	c.3544C>T	CCDS5465.1	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	2	GLI3	41971652	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	0		2	2	2	0		0	0	141		141	138	1	2.060000	-20.000000	1	0.170000	NM_000168			165	165		820	806	1		1	0		0	0	141	0		1	3.344654e-01	0	0	0	7	0	165	820
GLI3	2737	broad.mit.edu	37	7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1027					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(3079-3081)Ctc>Atc		GLI family zinc finger 3							15.0	17.0	16.0					7																	42005592		2196	4291	6487	SO:0001583	missense	2737	0	0		Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	g.chr7:42005592G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3079C>A	chr7.hg19:g.42005592G>T	ENSP00000379258:p.Leu1027Ile	0					GLI3_ENST00000479210.1_5'UTR	p.L1027I	NM_000168.5	NP_000159.3	1	2	3	2.000345	P10071	GLI3_HUMAN		15	3163	-			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	1	1	hg19	c.3079C>A	CCDS5465.1	1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622484	0.46840	.	.	ENSG00000106571	ENST00000395925	T	0.16743	2.32	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70595	2.14	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.03384	-1.1042	10	0.46703	T	0.11	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1027	P10071	GLI3_HUMAN	I	1027	ENSP00000379258:L1027I	ENSP00000379258:L1027I	L	-	1	0	0	GLI3	41972117	41972117	1.000000	0.71417	0.979000	0.43373	0.014000	0.08584	4.491000	0.60326	2.473000	0.83533	0.563000	0.77884	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_000168			36	36		140	139	0		1	0		0	0	15	0		1	1.946174e-01	0	0	0	4	0	36	140
C7orf25	79020	broad.mit.edu	37	7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433																																						ENST00000350427.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999696	0.990000	1.000000																										0				17						c.(1090-1092)aCg>aTg		chromosome 7 open reading frame 25							83.0	81.0	82.0					7																	42949409		2203	4300	6503	SO:0001583	missense	79020	10	121412	40				g.chr7:42949409G>A	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.1091C>T	chr7.hg19:g.42949409G>A	ENSP00000343364:p.Thr364Met	0					C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M	p.T364M			1	2	3	2.000345	Q9BPX7	CG025_HUMAN		2	1366	-			A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	1	1	hg19	c.1091C>T	CCDS5466.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362771	0.61403	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.96	5.08	0.68730	5.96	5.08	0.68730	.	0.047210	0.85682	D	0.000000	T	0.68622	0.3021	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69510	-0.5126	10	0.36615	T	0.2	0.09	15.14	0.72604	0.0675:0.0:0.9325:0.0	.	422;364	B4DQM3;Q9BPX7	.;CG025_HUMAN	M	364;364;422;364	ENSP00000343364:T364M;ENSP00000413029:T364M;ENSP00000416290:T422M;ENSP00000396597:T364M	ENSP00000343364:T364M	T	-	2	0	0	C7orf25	42915934	42915934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.471000	0.97696	1.525000	0.49052	-0.136000	0.14681	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-17.498610	1	0.170000	NM_024054			43	43		304	300	1		1	1		0	0	74	0		1	9.994654e-01	0	25	0	57	0	43	304
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000438029.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000447342.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433																																						ENST00000350427.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(661-663)caG>caA		chromosome 7 open reading frame 25							71.0	72.0	72.0					7																	42949837		2203	4300	6503	SO:0001819	synonymous_variant	79020	0	0					g.chr7:42949837C>T	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.663G>A	chr7.hg19:g.42949837C>T		0					C7orf25_ENST00000431882.2_Silent_p.Q279Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q	p.Q221Q			1	2	3	2.000345	Q9BPX7	CG025_HUMAN		2	938	-			A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	1	1	hg19	c.663G>A	CCDS5466.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	0		2	2	2	0		0	0	74		74	74	1	2.060000	-3.434086	1	0.170000	NM_024054			58	57		244	236	1		1	1		0	0	74	0		1	9.999997e-01	0	29	0	68	0	58	244
C7orf25	79020	broad.mit.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468																																						ENST00000350427.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(577-579)Gta>Ata		chromosome 7 open reading frame 25							85.0	79.0	81.0					7																	42949923		2203	4300	6503	SO:0001583	missense	79020	0	0					g.chr7:42949923C>T	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.577G>A	chr7.hg19:g.42949923C>T	ENSP00000343364:p.Val193Ile	0					C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I	p.V193I			1	2	3	2.000345	Q9BPX7	CG025_HUMAN		2	852	-			A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	1	1	hg19	c.577G>A	CCDS5466.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	0	C7orf25	42916448	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_024054			60	60		288	283	1		1	1		0	0	58	0		1	9.999992e-01	0	24	0	77	0	60	288
C7orf25	79020	broad.mit.edu	37	7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403																																						ENST00000350427.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S66N(1)	endometrium(1)	17						c.(196-198)aGc>aAc		chromosome 7 open reading frame 25							179.0	171.0	174.0					7																	42950303		2203	4300	6503	SO:0001583	missense	79020	0	0					g.chr7:42950303C>T	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.197G>A	chr7.hg19:g.42950303C>T	ENSP00000343364:p.Ser66Asn	0					C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N	p.S66N			1	2	3	2.000345	Q9BPX7	CG025_HUMAN		2	472	-			A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	1	1	hg19	c.197G>A	CCDS5466.1	1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605821	0.66445	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.56	4.68	0.58851	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.82823	2.61	0.80722	D	1	B;B;D	0.89917	0.085;0.085;1.0	B;B;D	0.79784	0.072;0.072;0.993	T	0.78685	-0.2108	10	0.87932	D	0	-19.246	14.2576	0.66062	0.0:0.9285:0.0:0.0715	.	66;124;66	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	N	66;66;124;66;66;80;66	ENSP00000343364:S66N;ENSP00000413029:S66N;ENSP00000416290:S124N;ENSP00000396597:S66N;ENSP00000413106:S66N;ENSP00000416542:S66N	ENSP00000343364:S66N	S	-	2	0	0	C7orf25	42916828	42916828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.456000	0.80751	1.348000	0.45733	0.555000	0.69702	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_024054			153	151		604	590	1		1	1		0	0	158	0		1	9.999876e-01	0	16	0	49	0	153	604
PSMA2	5683	broad.mit.edu	37	7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000223321.4	-	8	723	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M|PSMA2_ENST00000442788.1_Missense_Mutation_p.R220M	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	220					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)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378																																						ENST00000223321.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(658-660)aGg>aTg		proteasome (prosome, macropain) subunit, alpha type, 2							100.0	84.0	90.0					7																	42957219		2203	4300	6503	SO:0001583	missense	5683	0	0					g.chr7:42957219C>A	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.659G>T	chr7.hg19:g.42957219C>A	ENSP00000223321:p.Arg220Met	0					PSMA2_ENST00000442788.1_Missense_Mutation_p.R220M|PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M	p.R220M	NM_002787.4	NP_002778.1	1	2	3	2.000345	P25787	PSA2_HUMAN		8	723	-			Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	1	1	hg19	c.659G>T	CCDS5467.1	1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886810	0.72410	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.69248	2.105	0.80722	D	1	B	0.24368	0.102	B	0.32289	0.143	T	0.42172	-0.9467	10	0.39692	T	0.17	.	19.8546	0.96752	0.0:1.0:0.0:0.0	.	220	P25787	PSA2_HUMAN	M	220;150	ENSP00000223321:R220M;ENSP00000404858:R150M	ENSP00000223321:R220M	R	-	2	0	0	PSMA2	42923744	42923744	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-4.243457	1	0.170000	NM_002787			57	55		192	189	1		1	1		0	0	54	0		1	1	0	224	0	551	0	57	192
HECW1	23072	broad.mit.edu	37	7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.2	+	11	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						TGAGGGCAGTGTCCCCGATGG	0.602																																						ENST00000395891.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(1201-1203)Gtc>Ctc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							46.0	50.0	49.0					7																	43483972		2100	4229	6329	SO:0001583	missense	23072	0	0					g.chr7:43483972G>C	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.1201G>C	chr7.hg19:g.43483972G>C	ENSP00000379228:p.Val401Leu	0					HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	p.V401L	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		11	1806	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	1	1	hg19	c.1201G>C	CCDS5469.2	1	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348572	0.11126	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29142	1.58;1.58	5.4	1.27	0.21489	5.4	1.27	0.21489	.	8.972470	0.00166	N	0.000000	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.11329	0.006;0.002	T	0.12451	-1.0547	10	0.09084	T	0.74	.	2.8098	0.05438	0.1378:0.1234:0.4846:0.2543	.	401;401	B4DH42;Q76N89	.;HECW1_HUMAN	L	401	ENSP00000379228:V401L;ENSP00000407774:V401L	ENSP00000265522:V401L	V	+	1	0	0	HECW1	43450497	43450497	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.366000	0.20365	0.331000	0.23511	-0.182000	0.12963	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_015052			45	43		229	224	1		1	0		0	0	45	0		1	1.973877e-01	0	0	0	5	0	45	229
HECW1	23072	broad.mit.edu	37	7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.2	+	11	2218	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						TGCTCCTTGCCTGTGTCCGAG	0.657																																						ENST00000395891.2	1.000000	0.220000	6.200000e-01	3.100000e-01	0.440000	0.479868	0.440000	0.410000																										0				125						c.(1612-1614)cCt>cAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							38.0	47.0	44.0					7																	43484384		2108	4227	6335	SO:0001583	missense	23072	0	0					g.chr7:43484384C>A	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.1613C>A	chr7.hg19:g.43484384C>A	ENSP00000379228:p.Pro538His	0					HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	p.P538H	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		11	2218	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	1	1	hg19	c.1613C>A	CCDS5469.2	0	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471918	0.43942	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63913	1.02;-0.07	5.32	3.53	0.40419	5.32	3.53	0.40419	.	1.104460	0.06890	N	0.804018	T	0.71745	0.3376	L	0.59436	1.845	0.52099	D	0.999947	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.61212	-0.7108	10	0.87932	D	0	.	11.6784	0.51442	0.0:0.8567:0.0:0.1433	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	H	538	ENSP00000379228:P538H;ENSP00000407774:P538H	ENSP00000265522:P538H	P	+	2	0	0	HECW1	43450909	43450909	1.000000	0.71417	0.010000	0.14722	0.236000	0.25371	4.701000	0.61810	0.635000	0.30488	-0.136000	0.14681	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-11.419140	1	0.170000	NM_015052			10	10		273	272	0		1	0		0	0	46	0		9.969680e-01	2.137254e-02	0	0	0	5	0	10	273
HECW1	23072	broad.mit.edu	37	7	43484460	43484460	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.2	+	11	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000453890.1_Silent_p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	563					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						ACATCCGCATCCACACCCTGC	0.682																																						ENST00000395891.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				125						c.(1687-1689)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							40.0	48.0	46.0					7																	43484460		2125	4232	6357	SO:0001819	synonymous_variant	23072	0	0					g.chr7:43484460C>T	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.1689C>T	chr7.hg19:g.43484460C>T		0					HECW1_ENST00000453890.1_Silent_p.I563I	p.I563I	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		11	2294	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	1	1	hg19	c.1689C>T	CCDS5469.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	0		2	2	2	0		0	0	86		86	82	1	2.060000	-20.000000	1	0.170000	NM_015052			70	69		388	383	1		1	0		0	0	86	0		1	3.562986e-01	0	0	0	8	0	70	388
HECW1	23072	broad.mit.edu	37	7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.2	+	11	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	731					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						TCCGAGAGCACGGTCTTCTCC	0.632																																						ENST00000395891.2	1.000000	0.360000	6.700000e-01	4.400000e-01	0.540000	0.573298	0.540000	0.540000																										0				125						c.(2191-2193)aCg>aTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							70.0	76.0	74.0					7																	43484963		2134	4233	6367	SO:0001583	missense	23072	0	0					g.chr7:43484963C>T	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.2192C>T	chr7.hg19:g.43484963C>T	ENSP00000379228:p.Thr731Met	0					HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	p.T731M	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		11	2797	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	1	1	hg19	c.2192C>T	CCDS5469.2	0	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543382	0.86022	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46819	1.3;0.86	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.419197	0.26812	N	0.022366	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.63844	-0.6545	10	0.56958	D	0.05	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	731;731	B4DH42;Q76N89	.;HECW1_HUMAN	M	731	ENSP00000379228:T731M;ENSP00000407774:T731M	ENSP00000265522:T731M	T	+	2	0	0	HECW1	43451488	43451488	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.567000	0.82357	2.106000	0.64143	0.591000	0.81541	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-3.077337	1	0.170000	NM_015052			29	29		612	603	0		1	0		0	0	105	0		1	1.260095e-02	0	0	0	4	0	29	612
HECW1	23072	broad.mit.edu	37	7	43490509	43490509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.2	+	12	3086	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	827					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						ACCCAACAATCGATGAGCCTC	0.418																																						ENST00000395891.2	1.000000	0.170000	5.200000e-01	2.500000e-01	0.360000	0.406274	0.360000	0.340000																										0				125						c.(2479-2481)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							140.0	136.0	137.0					7																	43490509		1926	4127	6053	SO:0001819	synonymous_variant	23072	0	0					g.chr7:43490509C>T	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.2481C>T	chr7.hg19:g.43490509C>T		0					HECW1_ENST00000453890.1_Intron	p.I827I	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		12	3086	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	1	1	hg19	c.2481C>T	CCDS5469.2	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-3.080169	1	0.170000	NM_015052			9	9		303	294	0		1	0		0	0	72	0		9.935938e-01	4.881164e-02	0	0	0	11	0	9	303
HECW1	23072	broad.mit.edu	37	7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.2	+	27	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1442	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)			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						GTACATCGAGCGCATGGTGAA	0.587																																						ENST00000395891.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.997235	0.990000	1.000000																										0				125						c.(4324-4326)Cgc>Tgc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1																																				SO:0001583	missense	23072	0	0					g.chr7:43590119C>T	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.4324C>T	chr7.hg19:g.43590119C>T	ENSP00000379228:p.Arg1442Cys	0					HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	p.R1442C	NM_015052.3	NP_055867.3	1	2	3	2.000345	Q76N89	HECW1_HUMAN		27	4929	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	1	1	hg19	c.4324C>T	CCDS5469.2	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086304	0.76642	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.59224	0.28;0.28	5.62	1.73	0.24493	5.62	1.73	0.24493	HECT (4);	0.048274	0.85682	D	0.000000	T	0.71178	0.3309	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.969	T	0.74025	-0.3797	10	0.87932	D	0	.	13.675	0.62449	0.5785:0.4215:0.0:0.0	.	1408;1442	B4DH42;Q76N89	.;HECW1_HUMAN	C	1442;1408;1442	ENSP00000379228:R1442C;ENSP00000407774:R1408C	ENSP00000265522:R1442C	R	+	1	0	0	HECW1	43556644	43556644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.383000	0.24910	-0.274000	0.10170	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_015052			17	15		109	97	1		1	0		0	0	38	0		9.999371e-01	1.507139e-01	0	0	0	5	0	17	109
BLVRA	644	broad.mit.edu	37	7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T	rs377670975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	161					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGAAGAAGAGCGGTTTGGCTT	0.577																																						ENST00000402924.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(481-483)Cgg>Tgg		biliverdin reductase A		C	TRP/ARG	0,4406		0,0,2203	175.0	181.0	179.0		481	3.4	1.0	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	BLVRA	NM_000712.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/297	43843295	1,13005	2203	4300	6503	SO:0001583	missense	644	4	121412	42				g.chr7:43843295C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.481C>T	chr7.hg19:g.43843295C>T	ENSP00000385757:p.Arg161Trp	0					BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	p.R161W	NM_001253823.1	NP_001240752.1	1	2	3	2.000345	P53004	BIEA_HUMAN		8	644	+			A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	1	1	hg19	c.481C>T	CCDS5472.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405472	0.62288	0.0	1.16E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25749	1.78;1.78	4.32	3.43	0.39272	4.32	3.43	0.39272	Biliverdin reductase, catalytic (2);	1.288820	0.05404	N	0.541181	T	0.38295	0.1035	L	0.34521	1.04	0.27900	N	0.93901	D	0.76494	0.999	D	0.64321	0.924	T	0.26052	-1.0114	10	0.32370	T	0.25	.	9.8946	0.41311	0.204:0.796:0.0:0.0	.	161	P53004	BIEA_HUMAN	W	161	ENSP00000265523:R161W;ENSP00000385757:R161W	ENSP00000265523:R161W	R	+	1	2	2	BLVRA	43809820	43809820	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.469000	0.35343	0.923000	0.37045	-0.310000	0.09108	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	1	0	1		2	2	2	0		0	0	245		245	244	1	2.060000	-20.000000	1	0.170000	NM_000712			234	228		1139	1095	1		1	1		0	0	245	0		1	1	0	58	0	253	0	234	1139
BLVRA	644	broad.mit.edu	37	7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	283					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCACTGCCTGGGGCTTGCAGA	0.443																																						ENST00000402924.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(847-849)Ggg>Agg		biliverdin reductase A							66.0	67.0	67.0					7																	43846790		2203	4300	6503	SO:0001583	missense	644	0	0					g.chr7:43846790G>A	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.847G>A	chr7.hg19:g.43846790G>A	ENSP00000385757:p.Gly283Arg	0					BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	p.G283R	NM_001253823.1	NP_001240752.1	1	2	3	2.000345	P53004	BIEA_HUMAN		9	1010	+			A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	1	1	hg19	c.847G>A	CCDS5472.1	1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058859	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.21191	2.02;2.02	4.38	2.41	0.29592	4.38	2.41	0.29592	.	0.489174	0.24757	N	0.035848	T	0.13628	0.0330	N	0.22421	0.69	0.24712	N	0.993192	B	0.19706	0.038	B	0.25140	0.058	T	0.28267	-1.0049	10	0.21540	T	0.41	.	10.8631	0.46837	0.0:0.0:0.6118:0.3882	.	283	P53004	BIEA_HUMAN	R	283	ENSP00000265523:G283R;ENSP00000385757:G283R	ENSP00000265523:G283R	G	+	1	0	0	BLVRA	43813315	43813315	1.000000	0.71417	0.920000	0.36463	0.896000	0.52359	1.267000	0.33050	0.299000	0.22661	0.561000	0.74099	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.443443	1	0.170000	NM_000712			71	69		270	262	1		1	1		0	0	81	0		1	1	0	37	0	191	0	71	270
POLM	27434	broad.mit.edu	37	7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000242248.5	-	5	806	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	235					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607								DNA polymerases (catalytic subunits)																														ENST00000242248.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(703-705)caG>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							145.0	98.0	114.0					7																	44118348		2203	4300	6503	SO:0001583	missense	27434	0	0					g.chr7:44118348C>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.705G>T	chr7.hg19:g.44118348C>A	ENSP00000242248:p.Gln235His	0					POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000395831.3_Intron	p.Q235H	NM_013284.2	NP_037416.1	1	2	3	2.000345	Q9NP87	DPOLM_HUMAN		5	806	-			D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	1	1	hg19	c.705G>T	CCDS34625.1	1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861878	0.51482	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.47177	2.38;0.85	5.91	4.12	0.48240	5.91	4.12	0.48240	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.56906	0.2017	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.63880	0.958;0.963;0.993;0.987	P;P;P;P	0.56823	0.748;0.662;0.807;0.739	T	0.58092	-0.7697	9	0.66056	D	0.02	.	9.1492	0.36953	0.0:0.8334:0.0:0.1666	.	202;235;235;235	B4DG75;Q6PIY2;Q6P5X8;Q9NP87	.;.;.;DPOLM_HUMAN	H	235	ENSP00000335141:Q235H;ENSP00000242248:Q235H	ENSP00000242248:Q235H	Q	-	3	2	2	POLM	44084873	44084873	0.995000	0.38212	0.987000	0.45799	0.947000	0.59692	0.638000	0.24674	0.851000	0.35264	0.650000	0.86243	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_013284			59	58		307	297	1		1	1		0	0	77	0		1	9.713208e-01	0	11	0	21	0	59	307
AEBP1	165	broad.mit.edu	37	7	44144435	44144435	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	ENST00000223357.3	+	1	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	57	Pro-rich.				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)			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						TGGAGGCCCCGCCGCCTCCCG	0.711																																						ENST00000223357.3	1.000000	0.800000	1	9.900000e-01	0.990000	0.987712	0.990000	1.000000																										0				33						c.(169-171)ccG>ccA		AE binding protein 1							12.0	11.0	11.0					7																	44144435		2179	4281	6460	SO:0001819	synonymous_variant	165	0	0					g.chr7:44144435G>A	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.171G>A	chr7.hg19:g.44144435G>A		0						p.P57P	NM_001129.3	NP_001120.3	1	2	3	2.000345	Q8IUX7	AEBP1_HUMAN		1	476	+			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	0	1	hg19	c.171G>A	CCDS5476.1	1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414423	0.11870	.	.	ENSG00000106624	ENST00000455443	.	.	.	3.52	1.46	0.22682	3.52	1.46	0.22682	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-9.9063	5.7451	0.18116	0.2815:0.0:0.7185:0.0	.	.	.	.	T	15	.	.	A	+	1	0	0	AEBP1	44110960	44110960	0.060000	0.20803	0.708000	0.30435	0.435000	0.31806	1.053000	0.30442	-0.018000	0.14079	0.511000	0.50034	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-16.868050	1	0.170000	NM_001129			9	9		57	56	0		1	0		0	0	16	0		9.949712e-01	9.997996e-01	0	0	0	117	0	9	57
AEBP1	165	broad.mit.edu	37	7	44148560	44148560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148560G>T	ENST00000223357.3	+	7	1308	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	335					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)			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						GACAGACGAAGAGAAGGAGGA	0.627																																						ENST00000223357.3	1.000000	0.420000	1	6.700000e-01	0.990000	0.875133	0.990000	1.000000																										0				33						c.(1003-1005)Gag>Tag		AE binding protein 1							60.0	53.0	55.0					7																	44148560		2196	4296	6492	SO:0001587	stop_gained	165	0	0					g.chr7:44148560G>T	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.1003G>T	chr7.hg19:g.44148560G>T	ENSP00000223357:p.Glu335*	0					AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	p.E335*	NM_001129.3	NP_001120.3	1	2	3	2.000345	Q8IUX7	AEBP1_HUMAN		7	1308	+			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	0	1	hg19	c.1003G>T	CCDS5476.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265895|5.265895	0.95399|0.95399	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.695066|.	0.13617|.	N|.	0.374699|.	.|T	.|0.69043	.|0.3067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68387	.|-0.5422	.|4	0.87932|.	D|.	0|.	-26.7298|-26.7298	14.2378|14.2378	0.65938|0.65938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	335|227	.|.	ENSP00000223357:E335X|.	E|R	+|+	1|2	0|0	0|0	AEBP1|AEBP1	44115085|44115085	44115085|44115085	0.995000|0.995000	0.38212|0.38212	0.982000|0.982000	0.44146|0.44146	0.924000|0.924000	0.55760|0.55760	3.008000|3.008000	0.49544|0.49544	2.167000|2.167000	0.68274|0.68274	0.491000|0.491000	0.48974|0.48974	GAG|AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-11.318220	1	0.170000	NM_001129			6	6		68	67	0		1	0		0	0	17	0		9.656525e-01	1	0	1	0	1629	0	6	68
AEBP1	165	broad.mit.edu	37	7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1016	Interaction with MAPK1 and MAPK3. {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)			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						CCCCCAACAGCGACGCCTGCA	0.662																																						ENST00000223357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(3046-3048)Cga>Tga		AE binding protein 1							86.0	92.0	90.0					7																	44153429		2203	4300	6503	SO:0001587	stop_gained	165	0	0					g.chr7:44153429C>T	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.3046C>T	chr7.hg19:g.44153429C>T	ENSP00000223357:p.Arg1016*	0					AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*|MIR4649_ENST00000582839.1_RNA	p.R1016*	NM_001129.3	NP_001120.3	1	2	3	2.000345	Q8IUX7	AEBP1_HUMAN		21	3351	+			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	0	1	hg19	c.3046C>T	CCDS5476.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.986870	0.99312	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.33	2.51	0.30379	5.33	2.51	0.30379	.	0.321128	0.27730	N	0.018100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3185	14.3421	0.66633	0.3866:0.6133:0.0:0.0	.	.	.	.	X	1016;591	.	ENSP00000223357:R1016X	R	+	1	2	2	AEBP1	44119954	44119954	0.002000	0.14202	0.748000	0.31131	0.801000	0.45260	1.374000	0.34283	0.230000	0.21059	-0.270000	0.10280	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	0		2	2	2	0		0	0	113		113	110	1	2.060000	-20.000000	1	0.170000	NM_001129			120	120		545	534	1		1	0		0	0	113	0		1	1	0	1	0	1482	0	120	545
AEBP1	165	broad.mit.edu	37	7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1017	Interaction with MAPK1 and MAPK3. {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)			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						CCAACAGCGACGCCTGCAGCA	0.662																																						ENST00000223357.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(3049-3051)Cgc>Tgc		AE binding protein 1							82.0	87.0	85.0					7																	44153432		2203	4300	6503	SO:0001583	missense	165	0	0					g.chr7:44153432C>T	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.3049C>T	chr7.hg19:g.44153432C>T	ENSP00000223357:p.Arg1017Cys	0					AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C|MIR4649_ENST00000582839.1_RNA	p.R1017C	NM_001129.3	NP_001120.3	1	2	3	2.000345	Q8IUX7	AEBP1_HUMAN		21	3354	+			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	1	1	hg19	c.3049C>T	CCDS5476.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499192	0.64298	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.09	5.33	3.25	0.37280	5.33	3.25	0.37280	.	0.782162	0.12025	N	0.506551	D	0.89164	0.6637	N	0.19112	0.55	0.21984	N	0.999438	D;D	0.58268	0.982;0.97	P;B	0.44732	0.459;0.27	T	0.81852	-0.0742	10	0.62326	D	0.03	-12.0385	7.3391	0.26627	0.2928:0.6046:0.0:0.1025	.	592;1017	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1017;592	ENSP00000223357:R1017C;ENSP00000398878:R592C	ENSP00000223357:R1017C	R	+	1	0	0	AEBP1	44119957	44119957	0.000000	0.05858	0.510000	0.27712	0.846000	0.48090	0.986000	0.29590	1.241000	0.43820	0.557000	0.71058	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	0		2	2	2	0		0	0	102		102	99	1	2.060000	-20.000000	1	0.170000	NM_001129			121	116		515	509	1		1	0		0	0	102	0		1	1	0	1	0	1415	0	121	515
AEBP1	165	broad.mit.edu	37	7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1048	Interaction with MAPK1 and MAPK3. {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)			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						GGCCCCCACACTGTGCCTCCC	0.701																																						ENST00000223357.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.996174	0.990000	1.000000																										0				33						c.(3142-3144)aCt>aTt		AE binding protein 1							45.0	45.0	45.0					7																	44153526		2202	4298	6500	SO:0001583	missense	165	0	0					g.chr7:44153526C>T	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.3143C>T	chr7.hg19:g.44153526C>T	ENSP00000223357:p.Thr1048Ile	0					AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	p.T1048I	NM_001129.3	NP_001120.3	1	2	3	2.000345	Q8IUX7	AEBP1_HUMAN		21	3448	+			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	1	1	hg19	c.3143C>T	CCDS5476.1	1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393069	0.25118	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95690	-3.78;-3.13	4.0	0.568	0.17333	4.0	0.568	0.17333	.	1.510280	0.03661	N	0.242499	D	0.92047	0.7480	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.34931	0.192;0.094	D	0.84349	0.0531	10	0.87932	D	0	4.82	8.4594	0.32919	0.2768:0.581:0.1422:0.0	.	623;1048	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	1048;623	ENSP00000223357:T1048I;ENSP00000398878:T623I	ENSP00000223357:T1048I	T	+	2	0	0	AEBP1	44120051	44120051	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.877000	0.28106	0.113000	0.18004	0.557000	0.71058	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	0		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_001129			31	31		245	240	1		1	0		0	0	33	0		1	1	0	1	0	1419	0	31	245
POLD2	5425	broad.mit.edu	37	7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000452185.1_Missense_Mutation_p.P418H|POLD2_ENST00000223361.3_Missense_Mutation_p.P404H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	418					base-excision repair (GO:0006284)|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)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562																																						ENST00000406581.2	1.000000	0.680000	1	9.500000e-01	0.990000	0.969001	0.990000	1.000000																										0				12						c.(1252-1254)cCt>cAt		polymerase (DNA directed), delta 2, accessory subunit							33.0	32.0	32.0					7																	44154541		2203	4298	6501	SO:0001583	missense	5425	0	0					g.chr7:44154541G>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1253C>A	chr7.hg19:g.44154541G>T	ENSP00000386105:p.Pro418His	0					POLD2_ENST00000223361.3_Missense_Mutation_p.P404H|POLD2_ENST00000452185.1_Missense_Mutation_p.P418H	p.P418H	NM_001256879.1	NP_001243808.1	1	2	3	2.000345	P49005	DPOD2_HUMAN		12	1902	-			A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	0	1	hg19	c.1253C>A	CCDS5477.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296893	0.60086	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.45276	0.91;0.9;0.91	5.8	4.93	0.64822	5.8	4.93	0.64822	.	0.114840	0.64402	D	0.000011	T	0.51517	0.1679	M	0.66939	2.045	0.47819	D	0.999527	D;D	0.56287	0.958;0.975	P;P	0.55615	0.63;0.78	T	0.52786	-0.8529	10	0.46703	T	0.11	-12.3013	7.5049	0.27538	0.0784:0.0:0.6619:0.2596	.	418;404	P49005;F8W8R3	DPOD2_HUMAN;.	H	418;404;418	ENSP00000386105:P418H;ENSP00000223361:P404H;ENSP00000395231:P418H	ENSP00000223361:P404H	P	-	2	0	0	POLD2	44121066	44121066	0.813000	0.29090	0.988000	0.46212	0.950000	0.60333	2.801000	0.47908	1.478000	0.48253	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-16.623520	1	0.170000	NM_001127218			10	10		82	81	1		1	1		0	0	24	0		9.972634e-01	9.999979e-01	0	51	0	215	0	10	82
GCK	2645	broad.mit.edu	37	7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000437084.1_Missense_Mutation_p.V260M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	277	Hexokinase type-2.				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)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682																																						ENST00000403799.3	1.000000	0.320000	6.400000e-01	4.100000e-01	0.510000	0.540940	0.510000	0.500000																										0				37						c.(829-831)Gtg>Atg		glucokinase (hexokinase 4)							65.0	66.0	66.0					7																	44187283		2203	4300	6503	SO:0001583	missense	2645	0	0					g.chr7:44187283C>T	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.829G>A	chr7.hg19:g.44187283C>T	ENSP00000384247:p.Val277Met	0					GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000437084.1_Missense_Mutation_p.V260M	p.V277M	NM_000162.3	NP_000153.1	1	2	3	2.000345	P35557	HXK4_HUMAN		7	1298	-			A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	1	1	hg19	c.829G>A	CCDS5479.1	0	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967824	0.92855	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.5	5.5	0.81552	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.121200	0.56097	D	0.000035	D	0.97173	0.9076	L	0.58925	1.835	0.54753	D	0.999986	D;P;P	0.53885	0.963;0.803;0.954	P;P;P	0.58266	0.836;0.532;0.747	D	0.97189	0.9856	10	0.52906	T	0.07	-39.9831	18.9928	0.92800	0.0:1.0:0.0:0.0	.	277;278;276	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	277;276;278;260	ENSP00000384247:V277M;ENSP00000379142:V276M;ENSP00000223366:V278M;ENSP00000402840:V260M	ENSP00000223366:V278M	V	-	1	0	0	GCK	44153808	44153808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.954000	0.56708	2.585000	0.87301	0.561000	0.74099	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-4.501243	1	0.170000				23	23		523	515	0		1	0	0	0	0	92	0		9.999993e-01	1.994336e-03	0	0	0	2	1	23	523
NUDCD3	23386	broad.mit.edu	37	7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	357										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572																																						ENST00000355451.7	1.000000	0.650000	1	7.900000e-01	0.970000	0.919623	0.970000	1.000000																										0				7						c.(1069-1071)gGg>gAg		NudC domain containing 3							68.0	64.0	65.0					7																	44425626		2203	4300	6503	SO:0001583	missense	23386	1	121412	25				g.chr7:44425626C>T	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.1070G>A	chr7.hg19:g.44425626C>T	ENSP00000347626:p.Gly357Glu	0					NUDCD3_ENST00000460110.1_5'UTR	p.G357E	NM_015332.3	NP_056147.2	1	2	3	2.000345	Q8IVD9	NUDC3_HUMAN		6	1349	-			Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	1	1	hg19	c.1070G>A	CCDS5490.2	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917406	0.92249	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.58358	0.34	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.103771	0.64402	D	0.000004	T	0.68632	0.3022	L	0.59436	1.845	0.58432	D	0.999994	D	0.69078	0.997	P	0.60789	0.879	T	0.69176	-0.5214	10	0.72032	D	0.01	-20.757	19.8237	0.96607	0.0:1.0:0.0:0.0	.	357	Q8IVD9	NUDC3_HUMAN	E	357;113	ENSP00000347626:G357E	ENSP00000345922:G113E	G	-	2	0	0	NUDCD3	44392151	44392151	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.769000	0.68865	2.786000	0.95864	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-3.221884	1	0.170000	NM_015332			26	25		295	285	1		1	1		0	0	70	0		9.999999e-01	9.999962e-01	0	32	0	198	0	26	295
NUDCD3	23386	broad.mit.edu	37	7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	213	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567																																						ENST00000355451.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(637-639)aAg>aCg		NudC domain containing 3							131.0	118.0	122.0					7																	44467174		2203	4300	6503	SO:0001583	missense	23386	0	0					g.chr7:44467174T>G	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.638A>C	chr7.hg19:g.44467174T>G	ENSP00000347626:p.Lys213Thr	0					NUDCD3_ENST00000460110.1_5'UTR	p.K213T	NM_015332.3	NP_056147.2	1	2	3	2.000345	Q8IVD9	NUDC3_HUMAN		3	917	-			Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	1	1	hg19	c.638A>C	CCDS5490.2	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059671	0.76074	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.78	3.49	0.39957	5.78	3.49	0.39957	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.277214	0.38436	N	0.001683	T	0.68467	0.3004	M	0.80422	2.495	0.34906	D	0.746983	B	0.28055	0.199	P	0.57548	0.823	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7429	6.7428	0.23445	0.0:0.256:0.0:0.744	.	213	Q8IVD9	NUDC3_HUMAN	T	213	ENSP00000347626:K213T	ENSP00000347626:K213T	K	-	2	0	0	NUDCD3	44433699	44433699	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.970000	0.29383	0.505000	0.28104	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_015332			89	88		419	412	1		1	1		0	0	127	0		1	1	0	40	0	106	0	89	419
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587																																						ENST00000289547.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S982L(1)	lung(1)	57						c.(2944-2946)tCg>tTg		NPC1-like 1	Ezetimibe(DB00973)						71.0	71.0	71.0					7																	44561319		2203	4300	6503	SO:0001583	missense	29881	2	121412	35				g.chr7:44561319G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2945C>T	chr7.hg19:g.44561319G>A	ENSP00000289547:p.Ser982Leu	0					NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	p.S982L	NM_013389.2	NP_037521.2	1	2	3	2.000345	Q9UHC9	NPCL1_HUMAN		12	3000	-			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	1	1	hg19	c.2945C>T	CCDS5491.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	0	NPC1L1	44527844	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.162566	1	0.170000	NM_013389			64	63		292	288	1		1	1		0	0	85	0		1	9.999115e-01	0	25	0	40	0	64	292
NPC1L1	29881	broad.mit.edu	37	7	44561836	44561836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542																																						ENST00000289547.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				57						c.(2641-2643)tcG>tcA		NPC1-like 1	Ezetimibe(DB00973)						47.0	45.0	46.0					7																	44561836		2203	4300	6503	SO:0001819	synonymous_variant	29881	3	121406	30				g.chr7:44561836C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2643G>A	chr7.hg19:g.44561836C>T		0					NPC1L1_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	p.S881S	NM_013389.2	NP_037521.2	1	2	3	2.000345	Q9UHC9	NPCL1_HUMAN		11	2698	-			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	1	1	hg19	c.2643G>A	CCDS5491.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_013389			25	25		99	98	1		1	1		0	0	27	0		9.999999e-01	9.892895e-01	0	11	0	21	0	25	99
NPC1L1	29881	broad.mit.edu	37	7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000289547.4	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	492					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562																																						ENST00000289547.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(1474-1476)caG>caT		NPC1-like 1	Ezetimibe(DB00973)						143.0	123.0	130.0					7																	44578520		2203	4300	6503	SO:0001583	missense	29881	0	0					g.chr7:44578520C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1476G>T	chr7.hg19:g.44578520C>A	ENSP00000289547:p.Gln492His	0					NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H	p.Q492H	NM_013389.2	NP_037521.2	1	2	3	2.000345	Q9UHC9	NPCL1_HUMAN		2	1531	-			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	1	1	hg19	c.1476G>T	CCDS5491.1	1	.	.	.	.	.	.	.	.	.	.	c	16.63	3.177743	0.57692	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.07	3.26	0.37387	5.07	3.26	0.37387	.	0.133289	0.51477	D	0.000084	D	0.92264	0.7546	M	0.84585	2.705	0.41428	D	0.987841	B;D;B;B	0.69078	0.035;0.997;0.008;0.009	B;P;B;B	0.58873	0.047;0.847;0.031;0.007	D	0.90153	0.4222	10	0.46703	T	0.11	-12.2679	7.0715	0.25181	0.0:0.7223:0.0:0.2777	.	492;492;492;492	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	492	ENSP00000289547:Q492H;ENSP00000370552:Q492H;ENSP00000438033:Q492H;ENSP00000404670:Q492H	ENSP00000289547:Q492H	Q	-	3	2	2	NPC1L1	44545045	44545045	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	2.869000	0.48444	0.537000	0.28751	0.407000	0.27541	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_013389			79	74		299	295	1		1	1		0	0	74	0		1	9.394949e-01	0	9	0	11	0	79	299
NPC1L1	29881	broad.mit.edu	37	7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000289547.4	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	107					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592																																						ENST00000289547.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999397	0.990000	1.000000																										0				57						c.(319-321)aaG>aaT		NPC1-like 1	Ezetimibe(DB00973)						83.0	74.0	77.0					7																	44579675		2203	4300	6503	SO:0001583	missense	29881	0	0					g.chr7:44579675C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.321G>T	chr7.hg19:g.44579675C>A	ENSP00000289547:p.Lys107Asn	0					NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N	p.K107N	NM_013389.2	NP_037521.2	1	2	3	2.000345	Q9UHC9	NPCL1_HUMAN		2	376	-			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	1	1	hg19	c.321G>T	CCDS5491.1	1	.	.	.	.	.	.	.	.	.	.	c	9.686	1.150677	0.21371	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.9	4.01	0.46588	4.9	4.01	0.46588	.	0.055764	0.64402	D	0.000002	D	0.91236	0.7238	L	0.48218	1.51	0.42876	D	0.994154	D;D;P;D	0.89917	0.959;1.0;0.867;0.999	P;D;B;P	0.87578	0.463;0.998;0.348;0.904	D	0.87513	0.2441	10	0.17832	T	0.49	-33.0028	7.9746	0.30147	0.0:0.8104:0.0:0.1896	.	107;107;107;107	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	107	ENSP00000289547:K107N;ENSP00000370552:K107N;ENSP00000438033:K107N;ENSP00000404670:K107N	ENSP00000289547:K107N	K	-	3	2	2	NPC1L1	44546200	44546200	0.961000	0.32948	1.000000	0.80357	0.655000	0.38815	0.323000	0.19593	2.262000	0.75019	0.555000	0.69702	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_013389			36	35		254	246	1		1	1		0	0	39	0		1	7.966643e-01	0	9	0	14	0	36	254
NPC1L1	29881	broad.mit.edu	37	7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000289547.4	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	31					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612																																						ENST00000289547.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(91-93)gGc>gAc		NPC1-like 1	Ezetimibe(DB00973)						79.0	74.0	75.0					7																	44579904		2203	4300	6503	SO:0001583	missense	29881	0	0					g.chr7:44579904C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.92G>A	chr7.hg19:g.44579904C>T	ENSP00000289547:p.Gly31Asp	0					NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D	p.G31D	NM_013389.2	NP_037521.2	1	2	3	2.000345	Q9UHC9	NPCL1_HUMAN		2	147	-			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	1	1	hg19	c.92G>A	CCDS5491.1	1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.353004	0.61293	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.17	4.29	0.51040	5.17	4.29	0.51040	.	0.064498	0.64402	N	0.000011	D	0.97801	0.9278	M	0.83012	2.62	0.49389	D	0.999782	P;D;D;D	0.89917	0.941;1.0;0.995;1.0	B;D;P;D	0.97110	0.369;1.0;0.739;0.999	D	0.97747	1.0212	10	0.56958	D	0.05	-27.0967	11.3615	0.49646	0.0:0.9104:0.0:0.0896	.	31;31;31;31	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	D	31	ENSP00000289547:G31D;ENSP00000370552:G31D;ENSP00000438033:G31D;ENSP00000404670:G31D	ENSP00000289547:G31D	G	-	2	0	0	NPC1L1	44546429	44546429	0.991000	0.36638	0.924000	0.36721	0.716000	0.41182	3.187000	0.50950	1.172000	0.42781	0.561000	0.74099	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_013389			56	55		219	213	1		1	1		0	0	53	0		1	9.188296e-01	0	12	0	7	0	56	219
DDX56	54606	broad.mit.edu	37	7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000258772.5	-	6	842	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000431640.1_Missense_Mutation_p.L246I|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	246	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527																																						ENST00000258772.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(736-738)Ctc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							92.0	79.0	84.0					7																	44611245		2203	4300	6503	SO:0001583	missense	54606	0	0					g.chr7:44611245G>T	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.736C>A	chr7.hg19:g.44611245G>T	ENSP00000258772:p.Leu246Ile	0					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.L246I	p.L246I	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	1	2	3	2.000345	Q9NY93	DDX56_HUMAN		6	842	-			A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	1	1	hg19	c.736C>A	CCDS5492.1	1	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881624	0.72294	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04234	3.67;3.75	5.82	2.03	0.26663	5.82	2.03	0.26663	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.68593	2.085	0.45899	D	0.998748	P;D	0.69078	0.822;0.997	P;P	0.61201	0.495;0.885	T	0.12426	-1.0548	10	0.20519	T	0.43	-17.2289	8.7838	0.34807	0.313:0.0:0.687:0.0	.	246;246	C9JV95;Q9NY93	.;DDX56_HUMAN	I	246	ENSP00000258772:L246I;ENSP00000393488:L246I	ENSP00000258772:L246I	L	-	1	0	0	DDX56	44577770	44577770	1.000000	0.71417	0.061000	0.19648	0.825000	0.46686	4.194000	0.58393	0.096000	0.17463	-0.251000	0.11542	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-2.994266	1	0.170000	NM_019082			55	54		277	272	1		1	1		0	0	70	0		1	1	0	78	0	155	0	55	277
DDX56	54606	broad.mit.edu	37	7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000258772.5	-	4	587	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000431640.1_Missense_Mutation_p.E161K|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	161	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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507																																						ENST00000258772.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(481-483)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box helicase 56							144.0	142.0	142.0					7																	44612246		2203	4300	6503	SO:0001583	missense	54606	0	0					g.chr7:44612246C>T	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.481G>A	chr7.hg19:g.44612246C>T	ENSP00000258772:p.Glu161Lys	0					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E161K	p.E161K	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	1	2	3	2.000345	Q9NY93	DDX56_HUMAN		4	587	-			A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	1	1	hg19	c.481G>A	CCDS5492.1	1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518387	0.64634	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.48	5.48	0.80851	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053895	0.64402	D	0.000001	T	0.24661	0.0598	N	0.05383	-0.06	0.54753	D	0.999987	B;B	0.33583	0.277;0.418	B;B	0.35278	0.159;0.199	T	0.10730	-1.0617	10	0.25106	T	0.35	-39.2328	12.9102	0.58175	0.0:0.8368:0.1632:0.0	.	161;161	C9JV95;Q9NY93	.;DDX56_HUMAN	K	161	ENSP00000258772:E161K;ENSP00000393488:E161K	ENSP00000258772:E161K	E	-	1	0	0	DDX56	44578771	44578771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.746000	0.94184	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-20.000000	1	0.170000	NM_019082			117	116		558	546	1		1	1		0	0	153	0		1	1	0	52	0	149	0	117	558
TMED4	222068	broad.mit.edu	37	7	44621144	44621144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000457408.2	-	3	343	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000289577.5_Silent_p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	97	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567																																						ENST00000457408.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(289-291)gaG>gaA		transmembrane emp24 protein transport domain containing 4							67.0	69.0	69.0					7																	44621144		2203	4300	6503	SO:0001819	synonymous_variant	222068	0	0					g.chr7:44621144C>T	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.291G>A	chr7.hg19:g.44621144C>T		0					TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Silent_p.E97E	p.E97E	NM_182547.2	NP_872353.2	1	2	3	2.000345	Q7Z7H5	TMED4_HUMAN		3	343	-			A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	ENST00000457408.2	1	1	hg19	c.291G>A	CCDS5493.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	1	0	1		2	2	2	0		0	0	81		81	72	1	2.060000	-20.000000	1	0.170000	NM_182547			85	83		394	379	0		1	1		0	0	81	0		1	1	0	86	0	293	0	85	394
OGDH	4967	broad.mit.edu	37	7	44685096	44685096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000222673.5	+	3	435	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGGCAGTGCAGTCGCTCATCA	0.607																																						ENST00000222673.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(391-393)caG>caA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Valproic Acid(DB00313)						66.0	54.0	58.0					7																	44685096		2203	4300	6503	SO:0001819	synonymous_variant	4967	1	121412	29				g.chr7:44685096G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.393G>A	chr7.hg19:g.44685096G>A		0					OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000447398.1_Silent_p.Q131Q	p.Q131Q	NM_002541.3	NP_002532.2	1	2	3	2.000345	Q02218	ODO1_HUMAN		3	435	+			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	1	1	hg19	c.393G>A	CCDS34627.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				66	66		270	265	1		1	1		0	0	49	0		1	1	0	44	0	157	0	66	270
OGDH	4967	broad.mit.edu	37	7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000222673.5	+	4	460	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000543843.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	140					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCATAGATACGAGGGCACCA	0.458																																						ENST00000222673.5	1.000000	0.910000	1	9.900000e-01	0.990000	0.995315	0.990000	1.000000																										0				36						c.(418-420)Cga>Tga		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Valproic Acid(DB00313)						95.0	90.0	91.0					7																	44687259		2203	4300	6503	SO:0001587	stop_gained	4967	0	0					g.chr7:44687259C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.418C>T	chr7.hg19:g.44687259C>T	ENSP00000222673:p.Arg140*	0					OGDH_ENST00000449767.1_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	p.R140*	NM_002541.3	NP_002532.2	1	2	3	2.000345	Q02218	ODO1_HUMAN		4	460	+			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Nonsense_Mutation	SNP	ENST00000222673.5	0	1	hg19	c.418C>T	CCDS34627.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.456488	0.97581	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3707	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000222673:R140X	R	+	1	2	2	OGDH	44653784	44653784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	0		2	2	2	0		0	0	61		61	60	1	2.060000	-12.857310	1	0.170000				30	30		240	236	1		1	1		0	0	61	0		1	9.999952e-01	0	3	0	154	0	30	240
OGDH	4967	broad.mit.edu	37	7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000222673.5	+	23	2999	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	986					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCAGGTATGCCGGCCGGGAC	0.662																																						ENST00000222673.5	1.000000	0.710000	1	8.400000e-01	0.990000	0.943453	0.990000	1.000000																										0				36						c.(2956-2958)gCc>gAc		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Valproic Acid(DB00313)						43.0	43.0	43.0					7																	44747483		2203	4300	6503	SO:0001583	missense	4967	0	0					g.chr7:44747483C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2957C>A	chr7.hg19:g.44747483C>A	ENSP00000222673:p.Ala986Asp	0					OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D	p.A986D	NM_002541.3	NP_002532.2	1	2	3	2.000345	Q02218	ODO1_HUMAN		23	2999	+			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	1	1	hg19	c.2957C>A	CCDS34627.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924983	0.52759	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.0	4.11	0.48088	5.0	4.11	0.48088	.	0.106700	0.64402	D	0.000006	T	0.30947	0.0781	M	0.93507	3.425	0.51482	D	0.999925	B;B;B;B;B	0.29955	0.167;0.263;0.071;0.071;0.071	B;B;B;B;B	0.35182	0.13;0.197;0.128;0.128;0.128	T	0.31223	-0.9951	10	0.87932	D	0	-13.4744	13.1166	0.59303	0.0:0.9208:0.0:0.0792	.	781;836;982;997;986	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	836;982;997;1001;986;937	ENSP00000398576:A836D;ENSP00000392878:A982D;ENSP00000388183:A997D;ENSP00000414662:A1001D;ENSP00000222673:A986D;ENSP00000443821:A937D	ENSP00000222673:A986D	A	+	2	0	0	OGDH	44714008	44714008	0.975000	0.34042	0.441000	0.26858	0.913000	0.54294	2.416000	0.44644	1.233000	0.43693	0.313000	0.20887	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-2.920853	1	0.170000				35	35		381	375	1		1	1		0	0	89	0		1	1	0	49	0	260	0	35	381
OGDH	4967	broad.mit.edu	37	7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000222673.5	+	23	3014	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CGGGACCCAGCGGCTGCTCCA	0.652																																						ENST00000222673.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2971-2973)gCg>gTg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Valproic Acid(DB00313)						47.0	45.0	45.0					7																	44747498		2203	4300	6503	SO:0001583	missense	4967	1	121402	29				g.chr7:44747498C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2972C>T	chr7.hg19:g.44747498C>T	ENSP00000222673:p.Ala991Val	0					OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V	p.A991V	NM_002541.3	NP_002532.2	1	2	3	2.000345	Q02218	ODO1_HUMAN		23	3014	+			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	1	1	hg19	c.2972C>T	CCDS34627.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.455110	0.96223	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.055387	0.64402	D	0.000001	T	0.38665	0.1049	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.99;0.997;0.997;0.997	P;P;P;P;P	0.55055	0.567;0.567;0.767;0.767;0.767	T	0.57100	-0.7869	10	0.87932	D	0	-18.9093	18.2463	0.89986	0.0:1.0:0.0:0.0	.	786;841;987;1002;991	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	841;987;1002;1006;991;942	ENSP00000398576:A841V;ENSP00000392878:A987V;ENSP00000388183:A1002V;ENSP00000414662:A1006V;ENSP00000222673:A991V;ENSP00000443821:A942V	ENSP00000222673:A991V	A	+	2	0	0	OGDH	44714023	44714023	1.000000	0.71417	0.234000	0.24042	0.894000	0.52154	7.439000	0.80444	2.474000	0.83562	0.313000	0.20887	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	0		2	2	2	0		0	0	89		89	86	1	2.060000	-3.105970	1	0.170000				76	75		330	324	1		1	1		0	0	89	0		1	1	0	86	0	242	0	76	330
ZMIZ2	83637	broad.mit.edu	37	7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T	rs375252619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	702					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCACTGAAGCGCTGCCGCAC	0.677																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2104-2106)Cgc>Tgc		zinc finger, MIZ-type containing 2		C	CYS/ARG,CYS/ARG	0,4222		0,0,2111	28.0	31.0	30.0		2104,2026	4.2	1.0	7		30	1,8483		0,1,4241	no	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	180,180	0,1,6352	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	702/921,676/895	44805040	1,12705	2111	4242	6353	SO:0001583	missense	83637	2	121050	31				g.chr7:44805040C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2104C>T	chr7.hg19:g.44805040C>T	ENSP00000311778:p.Arg702Cys	0					ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	p.R702C	NM_031449.3	NP_113637.3	1	2	3	2.000345	Q8NF64	ZMIZ2_HUMAN		16	2227	+			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	1	1	hg19	c.2104C>T	CCDS43576.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781630	0.90282	0.0	1.18E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.16;1.16;1.16;1.15;1.18	5.14	4.24	0.50183	5.14	4.24	0.50183	.	0.000000	0.64402	D	0.000011	T	0.62648	0.2445	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.67007	-0.5779	10	0.56958	D	0.05	-16.8959	13.915	0.63893	0.0:0.9241:0.0:0.0759	.	676;702;644	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	644;702;702;670;676;705	ENSP00000409648:R644C;ENSP00000311778:R702C;ENSP00000414723:R702C;ENSP00000396601:R670C;ENSP00000265346:R676C	ENSP00000265346:R676C	R	+	1	0	0	ZMIZ2	44771565	44771565	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.577000	0.53885	2.686000	0.91538	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_031449			40	39		153	150	1		1	1		0	0	25	0		1	9.999958e-01	0	19	0	57	0	40	153
ZMIZ2	83637	broad.mit.edu	37	7	44807123	44807123	+	Silent	SNP	G	G	A	rs558877764	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	888	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGCTCCCGGAACTGACCA	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.002				NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999950	0.990000	1.000000																										0				35						c.(2662-2664)ccG>ccA		zinc finger, MIZ-type containing 2							126.0	140.0	136.0					7																	44807123		2054	4196	6250	SO:0001819	synonymous_variant	83637	4	121010	35				g.chr7:44807123G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2664G>A	chr7.hg19:g.44807123G>A		0					ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.P856P	p.P888P	NM_031449.3	NP_113637.3	1	2	3	2.000345	Q8NF64	ZMIZ2_HUMAN		19	2787	+			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	1	1	hg19	c.2664G>A	CCDS43576.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.669669	1	0.170000	NM_031449			37	35		223	214	1		1	1		0	0	63	0		1	1	0	44	0	128	0	37	223
MYO1G	64005	broad.mit.edu	37	7	45009400	45009400	+	Silent	SNP	G	G	A	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	469	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612																																						ENST00000258787.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1405-1407)gaC>gaT		myosin IG		G		1,4405	2.1+/-5.4	0,1,2202	111.0	113.0	112.0		1407	-5.4	0.9	7	dbSNP_134	112	0,8598		0,0,4299	no	coding-synonymous	MYO1G	NM_033054.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		469/1019	45009400	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	64005	12	121412	45				g.chr7:45009400G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1407C>T	chr7.hg19:g.45009400G>A		0						p.D469D	NM_033054.2	NP_149043.2	1	2	3	2.000345	B0I1T2	MYO1G_HUMAN		11	1543	-			Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	1	1	hg19	c.1407C>T	CCDS34629.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	1		2	2	2	0		0	0	148		148	147	1	2.060000	-20.000000	1	0.170000				163	162		759	744	1		1	0		0	0	148	0		1	9.991618e-01	0	0	0	49	0	163	759
MYO1G	64005	broad.mit.edu	37	7	45010479	45010479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	342	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662																																						ENST00000258787.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				28						c.(1024-1026)ggC>ggT		myosin IG							51.0	46.0	48.0					7																	45010479		2203	4300	6503	SO:0001819	synonymous_variant	64005	0	0					g.chr7:45010479G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1026C>T	chr7.hg19:g.45010479G>A		0						p.G342G	NM_033054.2	NP_149043.2	1	2	3	2.000345	B0I1T2	MYO1G_HUMAN		8	1162	-			Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	1	1	hg19	c.1026C>T	CCDS34629.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	0		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000				41	41		232	226	1		1	0		0	0	44	0		1	9.969345e-01	0	0	0	53	0	41	232
MYO1G	64005	broad.mit.edu	37	7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	324	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672																																						ENST00000258787.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				28						c.(970-972)cGc>cAc		myosin IG							49.0	41.0	43.0					7																	45010534		2202	4300	6502	SO:0001583	missense	64005	72	121372	47				g.chr7:45010534C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.971G>A	chr7.hg19:g.45010534C>T	ENSP00000258787:p.Arg324His	0						p.R324H	NM_033054.2	NP_149043.2	1	2	3	2.000345	B0I1T2	MYO1G_HUMAN		8	1107	-			Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	1	1	hg19	c.971G>A	CCDS34629.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	5.3	4.43	0.53597	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.40385	N	0.001103	D	0.86443	0.5934	L	0.28014	0.82	0.37491	D	0.916393	D;D	0.69078	0.997;0.985	D;P	0.63192	0.912;0.806	D	0.87855	0.2660	10	0.66056	D	0.02	.	8.4286	0.32744	0.0:0.8224:0.0:0.1776	.	324;324	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	324	ENSP00000258787:R324H	ENSP00000258787:R324H	R	-	2	0	0	MYO1G	44977059	44977059	0.997000	0.39634	0.986000	0.45419	0.288000	0.27193	0.993000	0.29680	1.384000	0.46424	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	0		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000				31	31		160	155	1		1	0		0	0	34	0		1	9.971053e-01	0	0	0	50	0	31	160
CCM2	83605	broad.mit.edu	37	7	45104190	45104190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000258781.6	+	4	566	c.417C>T	c.(415-417)atC>atT	p.I139I	CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000381112.3_Silent_p.I160I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.I133I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597																																						ENST00000258781.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				19						c.(415-417)atC>atT		cerebral cavernous malformation 2							86.0	55.0	66.0					7																	45104190		2203	4300	6503	SO:0001819	synonymous_variant	83605	2	121412	30				g.chr7:45104190C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.417C>T	chr7.hg19:g.45104190C>T		0					CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000381112.3_Silent_p.I160I|CCM2_ENST00000461377.1_3'UTR	p.I139I	NM_031443.3	NP_113631.1	1	2	3	2.000345	Q9BSQ5	CCM2_HUMAN		4	566	+			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	1	1	hg19	c.417C>T	CCDS5500.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_031443			28	28		127	127	1		1	1		0	0	49	0		1	1	0	27	0	137	0	28	127
CCM2	83605	broad.mit.edu	37	7	45109511	45109511	+	Silent	SNP	G	G	A	rs368152116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000258781.6	+	6	845	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000381112.3_Silent_p.A253A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607																																						ENST00000258781.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(694-696)gcG>gcA		cerebral cavernous malformation 2		G	,,,	0,4406		0,0,2203	129.0	120.0	123.0		759,522,,696	-6.1	0.9	7		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	253/466,174/387,,232/445	45109511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83605	1	121412	32				g.chr7:45109511G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.696G>A	chr7.hg19:g.45109511G>A		0					CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000381112.3_Silent_p.A253A|CCM2_ENST00000461377.1_3'UTR	p.A232A	NM_031443.3	NP_113631.1	1	2	3	2.000345	Q9BSQ5	CCM2_HUMAN		6	845	+			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	1	1	hg19	c.696G>A	CCDS5500.1	1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611161	0.28712	0.0	1.16E-4	ENSG00000136280	ENST00000480382	.	.	.	5.32	-6.13	0.02118	5.32	-6.13	0.02118	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	-30.244	3.9718	0.09457	0.5419:0.2266:0.1462:0.0853	.	.	.	.	Q	58	.	.	R	+	2	0	0	CCM2	45076036	45076036	0.012000	0.17670	0.898000	0.35279	0.996000	0.88848	-0.853000	0.04303	-0.789000	0.04498	-0.136000	0.14681	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_031443			65	65		381	375	1		1	1		0	0	97	0		1	1	0	40	0	152	0	65	381
CCM2	83605	broad.mit.edu	37	7	45113169	45113169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000258781.6	+	8	1063	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000381112.3_Splice_Site_p.T326M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Splice_Site_p.T208M	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	305	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657																																						ENST00000258781.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(913-915)aCg>aTg		cerebral cavernous malformation 2							54.0	44.0	48.0					7																	45113169		2203	4300	6503	SO:0001630	splice_region_variant	83605	0	0					g.chr7:45113169C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.915+1C>T	chr7.hg19:g.45113169C>T		0					CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000474617.1_Splice_Site_p.T208M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000381112.3_Splice_Site_p.T326M|CCM2_ENST00000461377.1_3'UTR	p.T305M	NM_031443.3	NP_113631.1	1	2	3	2.000345	Q9BSQ5	CCM2_HUMAN		8	1063	+			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Splice_Site	SNP	ENST00000258781.6	1	0	hg19	c.914C>T	CCDS5500.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931964	0.92389	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.049950	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.83275	0.984;0.977;0.882;0.996	T	0.68303	-0.5444	10	0.52906	T	0.07	-11.7598	18.1184	0.89563	0.0:1.0:0.0:0.0	.	326;214;247;305	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	M	305;247;214;299;326;208	ENSP00000258781:T305M;ENSP00000444725:T247M;ENSP00000438035:T214M;ENSP00000417180:T299M;ENSP00000370503:T326M;ENSP00000419474:T208M	ENSP00000258781:T305M	T	+	2	0	0	CCM2	45079694	45079694	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.470000	0.80973	2.622000	0.88805	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_031443	Missense_Mutation		35	35		124	124	0		1	1		0	0	28	0		1	1	0	21	0	166	0	35	124
TBRG4	9238	broad.mit.edu	37	7	45144233	45144233	+	Missense_Mutation	SNP	G	G	A	rs143689271		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45144233G>A	ENST00000258770.3	-	4	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|TBRG4_ENST00000361278.3_Intron|SNORA5C_ENST00000364902.1_RNA|SNORA5B_ENST00000363786.1_RNA|SNORA5A_ENST00000384111.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	271					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGCACGGACCGCCGGCTCTGA	0.612																																						ENST00000258770.3	1.000000	0.120000	4.400000e-01	1.900000e-01	0.290000	0.342465	0.290000	0.270000																										0				17						c.(811-813)Cgg>Tgg		transforming growth factor beta regulator 4		G	TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	59.0		811,,	3.8	1.0	7	dbSNP_134	59	0,8600		0,0,4300	no	missense,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	101,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,	271/632,,	45144233	1,13005	2203	4300	6503	SO:0001583	missense	9238	2	121412	33				g.chr7:45144233G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.811C>T	chr7.hg19:g.45144233G>A	ENSP00000258770:p.Arg271Trp	0					TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|SNORA5A_ENST00000384111.1_RNA|SNORA5B_ENST00000363786.1_RNA	p.R271W	NM_004749.3	NP_004740.2	1	2	3	2.000345	Q969Z0	TBRG4_HUMAN		4	932	-			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	0	1	hg19	c.811C>T	CCDS5501.1	0	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512987	0.64522	2.27E-4	0.0	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.69685	2.75;2.75;0.73;-0.42	5.69	3.83	0.44106	5.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.72894	2.215	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80074	-0.1534	10	0.72032	D	0.01	.	12.217	0.54412	0.0:0.0:0.6897:0.3103	.	282;271	B4DU42;Q969Z0	.;TBRG4_HUMAN	W	271;271;236;217	ENSP00000258770:R271W;ENSP00000420597:R271W;ENSP00000418631:R236W;ENSP00000417743:R217W	ENSP00000258770:R271W	R	-	1	2	2	TBRG4	45110758	45110758	1.000000	0.71417	0.978000	0.43139	0.619000	0.37552	3.104000	0.50306	0.698000	0.31739	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-7.662052	1	0.170000	NM_030900			7	7		298	292	0		1	0		0	0	43	0		9.795169e-01	8.511470e-01	0	1	0	148	0	7	298
TBRG4	9238	broad.mit.edu	37	7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|SNORA5C_ENST00000364902.1_RNA|SNORA5B_ENST00000363786.1_RNA|SNORA5A_ENST00000384111.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	174					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632																																						ENST00000258770.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(520-522)Tgg>Cgg		transforming growth factor beta regulator 4							74.0	71.0	72.0					7																	45145255		2203	4300	6503	SO:0001583	missense	9238	0	0					g.chr7:45145255A>G	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.520T>C	chr7.hg19:g.45145255A>G	ENSP00000258770:p.Trp174Arg	0					TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|SNORA5A_ENST00000384111.1_RNA|SNORA5B_ENST00000363786.1_RNA	p.W174R	NM_004749.3	NP_004740.2	1	2	3	2.000345	Q969Z0	TBRG4_HUMAN		3	641	-			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	1	1	hg19	c.520T>C	CCDS5501.1	1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796521	0.70567	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76328	2.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.934	T	0.59010	-0.7534	10	0.10636	T	0.68	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	185;174;174	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	174;174;174;174;139;120	ENSP00000258770:W174R;ENSP00000354992:W174R;ENSP00000379016:W174R;ENSP00000420597:W174R;ENSP00000418631:W139R;ENSP00000417743:W120R	ENSP00000258770:W174R	W	-	1	0	0	TBRG4	45111780	45111780	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.126000	0.89592	2.195000	0.70347	0.533000	0.62120	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_030900			85	85		361	355	1		1	1		0	0	112	0		1	1	0	55	0	127	0	85	361
TBRG4	9238	broad.mit.edu	37	7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	8					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557																																						ENST00000258770.3	1.000000	0.740000	1	8.900000e-01	0.990000	0.960872	0.990000	1.000000																										0				17						c.(22-24)Cga>Tga		transforming growth factor beta regulator 4							48.0	45.0	46.0					7																	45148815		2203	4300	6503	SO:0001587	stop_gained	9238	2	121402	32				g.chr7:45148815G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.22C>T	chr7.hg19:g.45148815G>A	ENSP00000258770:p.Arg8*	0					TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*	p.R8*	NM_004749.3	NP_004740.2	1	2	3	2.000345	Q969Z0	TBRG4_HUMAN		2	143	-			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Nonsense_Mutation	SNP	ENST00000258770.3	0	1	hg19	c.22C>T	CCDS5501.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.618423	0.96649	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078	.	.	.	4.91	4.01	0.46588	4.91	4.01	0.46588	.	0.884037	0.09884	N	0.743253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9389	0.64043	0.0:0.1533:0.8467:0.0	.	.	.	.	X	8	.	ENSP00000258770:R8X	R	-	1	2	2	TBRG4	45115340	45115340	0.033000	0.19621	0.926000	0.36857	0.857000	0.48899	1.641000	0.37197	1.241000	0.43820	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000	NM_030900			31	30		317	308	0		1	1		0	0	89	0		1	9.998139e-01	0	15	0	121	0	31	317
ADCY1	107	broad.mit.edu	37	7	45614617	45614617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	ENST00000297323.7	+	1	497	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	159					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccAGCGACCGCCGAACAAGG	0.697																																						ENST00000297323.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(475-477)Gcc>Acc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						12.0	12.0	12.0					7																	45614617		2137	4178	6315	SO:0001583	missense	107	0	0					g.chr7:45614617G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.475G>A	chr7.hg19:g.45614617G>A	ENSP00000297323:p.Ala159Thr	0					ADCY1_ENST00000432715.1_5'UTR	p.A159T	NM_021116.2	NP_066939.1	1	2	3	2.000345	Q08828	ADCY1_HUMAN		1	497	+			A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	1	1	hg19	c.475G>A	CCDS34631.1	1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756975	0.31137	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80566	-1.39	3.7	2.76	0.32466	3.7	2.76	0.32466	.	0.141712	0.47093	D	0.000248	T	0.61451	0.2348	L	0.27053	0.805	0.36257	D	0.854304	B	0.30439	0.279	B	0.19148	0.024	T	0.62201	-0.6904	10	0.28530	T	0.3	.	5.6742	0.17739	0.0:0.2311:0.5639:0.2049	.	159	Q08828	ADCY1_HUMAN	T	159	ENSP00000297323:A159T	ENSP00000297323:A159T	A	+	1	0	0	ADCY1	45581142	45581142	0.964000	0.33143	0.393000	0.26258	0.410000	0.31052	1.931000	0.40134	1.879000	0.54435	0.205000	0.17691	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_021116			35	35		132	131	0		1	0		0	0	25	0		1	0	0	0	0	1	0	35	132
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000297323.7	+	8	1563	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCATGCACTGCCGGAAAATG	0.522																																						ENST00000297323.7	1.000000	0.880000	1	9.900000e-01	0.990000	0.993301	0.990000	1.000000																										0				71						c.(1540-1542)tGc>tAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						86.0	73.0	77.0					7																	45701749		2203	4300	6503	SO:0001583	missense	107	0	0					g.chr7:45701749G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1541G>A	chr7.hg19:g.45701749G>A	ENSP00000297323:p.Cys514Tyr	0					ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	p.C514Y	NM_021116.2	NP_066939.1	1	2	3	2.000345	Q08828	ADCY1_HUMAN		8	1563	+			A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	1	1	hg19	c.1541G>A	CCDS34631.1	1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162870	0.57368	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.81659	-1.52;-1.21	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.863;0.992	B;D	0.74023	0.424;0.982	T	0.80070	-0.1536	10	0.02654	T	1	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	514;289	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	289;514;514	ENSP00000392721:C289Y;ENSP00000297323:C514Y	ENSP00000297323:C514Y	C	+	2	0	0	ADCY1	45668274	45668274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-10.105240	1	0.170000	NM_021116			19	19		142	139	1		1	0		0	0	31	0		9.999924e-01	1.194047e-01	0	0	0	5	0	19	142
ADCY1	107	broad.mit.edu	37	7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1035	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTACCACTTTGTGTGCCGA	0.537																																						ENST00000297323.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(3103-3105)tTt>tGt		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						95.0	89.0	91.0					7																	45753338		2203	4300	6503	SO:0001583	missense	107	0	0					g.chr7:45753338T>G	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.3104T>G	chr7.hg19:g.45753338T>G	ENSP00000297323:p.Phe1035Cys	0						p.F1035C	NM_021116.2	NP_066939.1	1	2	3	2.000345	Q08828	ADCY1_HUMAN		20	3126	+			A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	1	1	hg19	c.3104T>G	CCDS34631.1	1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709070	0.68615	.	.	ENSG00000164742	ENST00000297323	T	0.33438	1.41	5.77	5.77	0.91146	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052646	0.85682	D	0.000000	T	0.33089	0.0851	L	0.39566	1.225	0.53005	D	0.999966	B	0.15473	0.013	B	0.37833	0.259	T	0.14117	-1.0484	10	0.18710	T	0.47	.	14.039	0.64663	0.0:0.0:0.0:1.0	.	1035	Q08828	ADCY1_HUMAN	C	1035	ENSP00000297323:F1035C	ENSP00000297323:F1035C	F	+	2	0	0	ADCY1	45719863	45719863	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.599000	0.82757	2.200000	0.70718	0.533000	0.62120	TTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_021116			73	71		303	294	1		1	0		0	0	68	0		1	1.007245e-01	0	0	0	3	0	73	303
TNS3	64759	broad.mit.edu	37	7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3	1439					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						GGGGAACCAATCATGACCTTT	0.592																																						ENST00000398879.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(4315-4317)Att>Gtt		tensin 3							60.0	65.0	63.0					7																	47317697		2107	4251	6358	SO:0001583	missense	64759	0	0					g.chr7:47317697T>C	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.4315A>G	chr7.hg19:g.47317697T>C	ENSP00000381854:p.Ile1439Val	0					TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V	p.I1439V			1	2	3	2.000345	Q68CZ2	TENS3_HUMAN		31	4681	-			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	1	1	hg19	c.4315A>G	CCDS5506.2	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982934	0.74474	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730	T;T;T	0.42131	0.98;0.98;0.98	5.18	5.18	0.71444	5.18	5.18	0.71444	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.280669	0.35936	N	0.002894	T	0.63558	0.2521	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66999	-0.5781	10	0.59425	D	0.04	-31.1124	12.9921	0.58625	0.0:0.0:0.0:1.0	.	1439	Q68CZ2	TENS3_HUMAN	V	1439;1439;1199	ENSP00000312143:I1439V;ENSP00000381854:I1439V;ENSP00000347968:I1199V	ENSP00000312143:I1439V	I	-	1	0	0	TNS3	47284222	47284222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.844000	0.86867	1.963000	0.57068	0.528000	0.53228	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_022748			38	36		149	148	1		1	1		0	0	39	0		1	1	0	26	0	271	0	38	149
TNS3	64759	broad.mit.edu	37	7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3	1227	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						GGCCAAATCTCCAGCTGTGGC	0.433																																						ENST00000398879.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				64						c.(3679-3681)gGa>gAa		tensin 3							64.0	61.0	62.0					7																	47333423		1862	4099	5961	SO:0001583	missense	64759	3	120828	34				g.chr7:47333423C>T	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.3680G>A	chr7.hg19:g.47333423C>T	ENSP00000381854:p.Gly1227Glu	0					TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E	p.G1227E			1	2	3	2.000345	Q68CZ2	TENS3_HUMAN		25	4046	-			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	1	1	hg19	c.3680G>A	CCDS5506.2	1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907899	0.72868	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.94793	-3.06;-3.06;-3.52	5.2	4.29	0.51040	5.2	4.29	0.51040	SH2 motif (4);	1.364500	0.04355	N	0.356346	D	0.96445	0.8840	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88733	0.3238	10	0.62326	D	0.03	-12.7553	8.8008	0.34907	0.1707:0.6643:0.165:0.0	.	1227	Q68CZ2	TENS3_HUMAN	E	1227;1227;987;683	ENSP00000312143:G1227E;ENSP00000381854:G1227E;ENSP00000347968:G987E	ENSP00000312143:G1227E	G	-	2	0	0	TNS3	47299948	47299948	0.999000	0.42202	0.895000	0.35142	0.974000	0.67602	3.456000	0.53000	1.264000	0.44198	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-2.994551	1	0.170000	NM_022748			39	38		188	183	1		1	1		0	0	52	0		1	1	0	14	0	209	0	39	188
TNS3	64759	broad.mit.edu	37	7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V			Q68CZ2	TENS3_HUMAN	tensin 3	1057					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						AGCCCCTGTCGCTGTCAGCGG	0.667																																						ENST00000398879.1	1.000000	0.730000	1	9.400000e-01	0.990000	0.972562	0.990000	1.000000																										0				64						c.(3169-3171)gCg>gTg		tensin 3							16.0	20.0	19.0					7																	47342835		2022	4156	6178	SO:0001583	missense	64759	0	0					g.chr7:47342835G>A	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.3170C>T	chr7.hg19:g.47342835G>A	ENSP00000381854:p.Ala1057Val	0					TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V	p.A1057V			1	2	3	2.000345	Q68CZ2	TENS3_HUMAN		22	3536	-			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	1	1	hg19	c.3170C>T	CCDS5506.2	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283027	0.23392	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	2.42	0.29668	5.66	2.42	0.29668	.	1.979490	0.02117	N	0.055295	T	0.31827	0.0809	L	0.27053	0.805	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.15954	-1.0419	10	0.22109	T	0.4	-5.5552	2.7835	0.05367	0.2537:0.0:0.5239:0.2224	.	1057	Q68CZ2	TENS3_HUMAN	V	1057;1167;1057;817;513;1160	ENSP00000312143:A1057V;ENSP00000381854:A1057V;ENSP00000347968:A817V;ENSP00000414358:A1160V	ENSP00000312143:A1057V	A	-	2	0	0	TNS3	47309360	47309360	0.033000	0.19621	0.003000	0.11579	0.095000	0.18619	2.044000	0.41241	0.718000	0.32166	0.555000	0.69702	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_022748			18	17		163	161	1		1	1		0	0	28	0		9.999843e-01	9.999569e-01	0	3	0	156	0	18	163
TNS3	64759	broad.mit.edu	37	7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q			Q68CZ2	TENS3_HUMAN	tensin 3	880					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						CGTCCTCCTTTGTGCTGACTG	0.602																																						ENST00000398879.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2638-2640)Aaa>Caa		tensin 3							45.0	52.0	50.0					7																	47384365		1937	4144	6081	SO:0001583	missense	64759	0	0					g.chr7:47384365T>G	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.2638A>C	chr7.hg19:g.47384365T>G	ENSP00000381854:p.Lys880Gln	0					TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q	p.K880Q			1	2	3	2.000345	Q68CZ2	TENS3_HUMAN		20	3004	-			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	1	1	hg19	c.2638A>C	CCDS5506.2	1	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688120	0.14973	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94232	-2.93;-2.93;-3.38;-3.06	5.55	3.05	0.35203	5.55	3.05	0.35203	.	1.937310	0.01889	N	0.038421	D	0.88288	0.6396	L	0.27053	0.805	0.18873	N	0.999984	B	0.30482	0.281	B	0.24701	0.055	T	0.75190	-0.3405	10	0.14252	T	0.57	-2.8134	9.618	0.39704	0.0:0.0:0.3427:0.6573	.	880	Q68CZ2	TENS3_HUMAN	Q	880;990;880;640;336;983	ENSP00000312143:K880Q;ENSP00000381854:K880Q;ENSP00000347968:K640Q;ENSP00000414358:K983Q	ENSP00000312143:K880Q	K	-	1	0	0	TNS3	47350890	47350890	0.292000	0.24362	0.005000	0.12908	0.488000	0.33401	1.377000	0.34317	0.335000	0.23614	0.379000	0.24179	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_022748			73	70		290	283	1		1	1		0	0	63	0		1	1	0	11	0	164	0	73	290
TNS3	64759	broad.mit.edu	37	7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W			Q68CZ2	TENS3_HUMAN	tensin 3	759					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						TCACCTTGCCGCCCGGTGGCC	0.637																																						ENST00000398879.1	1.000000	0.250000	4.300000e-01	3.000000e-01	0.350000	0.397177	0.350000	0.350000																										0				64						c.(2275-2277)Cgg>Tgg		tensin 3							95.0	107.0	103.0					7																	47407968		1974	4150	6124	SO:0001583	missense	64759	5	118568	40				g.chr7:47407968G>A	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.2275C>T	chr7.hg19:g.47407968G>A	ENSP00000381854:p.Arg759Trp	0					TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W	p.R759W			1	2	3	2.000345	Q68CZ2	TENS3_HUMAN		17	2641	-			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	1	1	hg19	c.2275C>T	CCDS5506.2	0	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500644	0.64298	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-3.02;-3.02;-3.45;-3.16	4.81	-7.87	0.01183	4.81	-7.87	0.01183	.	1.491510	0.04198	N	0.329518	D	0.89262	0.6665	L	0.29908	0.895	0.09310	N	0.999994	D	0.56968	0.978	P	0.44477	0.451	D	0.84734	0.0747	10	0.54805	T	0.06	-27.1163	8.7967	0.34883	0.0:0.1648:0.3765:0.4587	.	759	Q68CZ2	TENS3_HUMAN	W	759;869;759;519;215;862	ENSP00000312143:R759W;ENSP00000381854:R759W;ENSP00000347968:R519W;ENSP00000414358:R862W	ENSP00000312143:R759W	R	-	1	2	2	TNS3	47374493	47374493	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.728000	0.04925	-1.169000	0.02772	0.655000	0.94253	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	0	0	0		19	2	2	0		0	1	227		227	226	1	2.060000	-2.821362	1	0.170000	NM_022748			37	37		1200	1177	0		1	1		0	0	227	0		9.940156e-01	9.099580e-01	0	3	0	131	0	37	1200
C7orf69	80099	broad.mit.edu	37	7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000258776.4	+	3	391	c.346A>G	c.(346-348)Aat>Gat	p.N116D	PKD1L1_ENST00000289672.2_Intron|C7orf69_ENST00000418326.2_Missense_Mutation_p.N97D	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	116						extracellular region (GO:0005576)				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408																																						ENST00000258776.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				2						c.(346-348)Aat>Gat		chromosome 7 open reading frame 69							82.0	79.0	80.0					7																	47859172		1889	4126	6015	SO:0001583	missense	80099	0	0					g.chr7:47859172A>G	BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275			21911	protein-coding gene	gene with protein product							Standard	NM_025031		Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000258776.4:c.346A>G	chr7.hg19:g.47859172A>G	ENSP00000258776:p.Asn116Asp	0					C7orf69_ENST00000418326.2_Missense_Mutation_p.N97D|PKD1L1_ENST00000289672.2_Intron	p.N116D	NM_025031.2	NP_079307.2	1	2	3	2.000345	Q9H7B7	CG069_HUMAN		3	391	+			A4D2F1|Q14CN7|Q75MJ5	Missense_Mutation	SNP	ENST00000258776.4	1	1	hg19	c.346A>G	CCDS43581.1	1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273272	0.23221	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.51817	0.69	4.32	-3.18	0.05186	4.32	-3.18	0.05186	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.33690	0.168	T	0.18650	-1.0330	9	0.87932	D	0	.	6.1774	0.20451	0.335:0.1688:0.4963:0.0	.	116	Q9H7B7	CG069_HUMAN	D	116;97	ENSP00000258776:N116D	ENSP00000258776:N116D	N	+	1	0	0	C7orf69	47825697	47825697	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.176000	0.09811	-0.459000	0.07013	-0.250000	0.11733	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340973.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_025031			28	28		112	108	1		1			0	0	53	0		1	0	0	0	0	0	0	28	112
PKD1L1	168507	broad.mit.edu	37	7	47886656	47886656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1658					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.G1658G(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						AGGATAAATAGCCTACACTGG	0.393																																						ENST00000289672.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									BBS9/PKD1L1(2)	1	Substitution - coding silent(1)	p.G1658G(1)	endometrium(1)	142						c.(4972-4974)ggC>ggT		polycystic kidney disease 1 like 1							69.0	66.0	67.0					7																	47886656		2203	4300	6503	SO:0001819	synonymous_variant	168507	0	0					g.chr7:47886656G>A	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.4974C>T	chr7.hg19:g.47886656G>A		0						p.G1658G	NM_138295.3	NP_612152.1	1	2	3	2.000345	Q8TDX9	PK1L1_HUMAN		32	5024	-			Q6UWK1	Silent	SNP	ENST00000289672.2	1	1	hg19	c.4974C>T	CCDS34633.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_138295			44	43		130	126	1		1	0		0	0	29	0		1	0	0	0	0	1	0	44	130
PKD1L1	168507	broad.mit.edu	37	7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1355	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)		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						CTGCATACTGAAGAAATTAAT	0.458																																						ENST00000289672.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									BBS9/PKD1L1(2)	0				142						c.(4063-4065)Tca>Cca		polycystic kidney disease 1 like 1							169.0	147.0	155.0					7																	47906046		2203	4300	6503	SO:0001583	missense	168507	0	0					g.chr7:47906046A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4063T>C	chr7.hg19:g.47906046A>G	ENSP00000289672:p.Ser1355Pro	0						p.S1355P	NM_138295.3	NP_612152.1	1	2	3	2.000345	Q8TDX9	PK1L1_HUMAN		25	4113	-			Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	1	1	hg19	c.4063T>C	CCDS34633.1	1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822259	0.32237	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	4.94	3.75	0.43078	4.94	3.75	0.43078	Egg jelly receptor, REJ-like (1);	0.367956	0.22074	N	0.064993	T	0.37237	0.0996	L	0.60455	1.87	0.26739	N	0.970422	D	0.76494	0.999	D	0.66196	0.942	T	0.12502	-1.0545	10	0.66056	D	0.02	-10.6409	9.1496	0.36955	0.6412:0.3588:0.0:0.0	.	1355	Q8TDX9	PK1L1_HUMAN	P	1355	ENSP00000289672:S1355P	ENSP00000289672:S1355P	S	-	1	0	0	PKD1L1	47872571	47872571	1.000000	0.71417	0.544000	0.28141	0.224000	0.24922	1.602000	0.36783	0.706000	0.31912	0.533000	0.62120	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_138295			89	87		429	423	1		1			0	0	95	0		1	0	0	0	0	0	0	89	429
PKD1L1	168507	broad.mit.edu	37	7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	772	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)		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						ACCTCCAGGCCCACACAGTAG	0.592																																						ENST00000289672.2	1.000000	0.300000	7.100000e-01	4.000000e-01	0.530000	0.566972	0.530000	0.500000																									BBS9/PKD1L1(2)	0				142						c.(2314-2316)Ggc>Tgc		polycystic kidney disease 1 like 1							91.0	68.0	75.0					7																	47933614		2203	4300	6503	SO:0001583	missense	168507	0	0					g.chr7:47933614C>A	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.2314G>T	chr7.hg19:g.47933614C>A	ENSP00000289672:p.Gly772Cys	0						p.G772C	NM_138295.3	NP_612152.1	1	2	3	2.000345	Q8TDX9	PK1L1_HUMAN		15	2364	-			Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	0	1	hg19	c.2314G>T	CCDS34633.1	0	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505172	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	2.19	0.27852	5.23	2.19	0.27852	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.393919	0.21761	N	0.069506	T	0.70684	0.3252	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.58645	-0.7600	10	0.44086	T	0.13	-13.2627	8.0761	0.30718	0.0:0.4701:0.441:0.089	.	772	Q8TDX9	PK1L1_HUMAN	C	772	ENSP00000289672:G772C	ENSP00000289672:G772C	G	-	1	0	0	PKD1L1	47900139	47900139	0.000000	0.05858	0.385000	0.26158	0.847000	0.48162	0.447000	0.21710	0.570000	0.29347	0.543000	0.68304	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-15.109240	1	0.170000	NM_138295			14	14		307	299	0		1			0	0	68	0		9.997259e-01	0	0	0	0	0	0	14	307
PKD1L1	168507	broad.mit.edu	37	7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	91					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTGGAAGCTGATGAGGAT	0.463																																						ENST00000289672.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									BBS9/PKD1L1(2)	0				142						c.(271-273)Gct>Act		polycystic kidney disease 1 like 1							158.0	134.0	142.0					7																	47979804		2203	4300	6503	SO:0001583	missense	168507	0	0					g.chr7:47979804C>T	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.271G>A	chr7.hg19:g.47979804C>T	ENSP00000289672:p.Ala91Thr	0						p.A91T	NM_138295.3	NP_612152.1	1	2	3	2.000345	Q8TDX9	PK1L1_HUMAN		3	321	-			Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	1	1	hg19	c.271G>A	CCDS34633.1	1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899348	0.33535	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	2.82	0.899	0.19271	2.82	0.899	0.19271	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34301	0.179	T	0.19647	-1.0299	9	0.42905	T	0.14	-0.8432	8.89	0.35427	0.0:0.5528:0.4472:0.0	.	91	Q8TDX9	PK1L1_HUMAN	T	91	ENSP00000289672:A91T	ENSP00000289672:A91T	A	-	1	0	0	PKD1L1	47946329	47946329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.231000	0.21079	-0.156000	0.13503	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_138295			70	68		335	326	1		1	0		0	0	65	0		1	0	0	0	0	1	0	70	335
HUS1	3364	broad.mit.edu	37	7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	117					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(349-351)Gtg>Atg	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							71.0	66.0	68.0					7																	48018022		2203	4300	6503	SO:0001583	missense	3364	0	0					g.chr7:48018022C>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.349G>A	chr7.hg19:g.48018022C>T	ENSP00000258774:p.Val117Met	0					HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	p.V117M	NM_004507.3	NP_004498.1	1	2	3	2.000345	O60921	HUS1_HUMAN		3	372	-		Breast(660;0.00139)	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	1	1	hg19	c.349G>A	CCDS34635.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757039	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.31	-0.114	0.13564	5.31	-0.114	0.13564	.	0.364925	0.30869	N	0.008711	T	0.15392	0.0371	M	0.69823	2.125	0.23598	N	0.997329	D	0.56287	0.975	P	0.53760	0.734	T	0.22941	-1.0202	10	0.14252	T	0.57	-8.5017	5.1699	0.15105	0.0:0.4099:0.2794:0.3107	.	117	O60921	HUS1_HUMAN	M	117;96;96;96	ENSP00000258774:V117M;ENSP00000416588:V96M;ENSP00000404855:V96M;ENSP00000398806:V96M	ENSP00000258774:V117M	V	-	1	0	0	HUS1	47984547	47984547	0.981000	0.34729	0.011000	0.14972	0.489000	0.33432	2.449000	0.44935	-0.345000	0.08325	0.655000	0.94253	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-3.403709	1	0.170000	NM_004507			51	51		237	232	1		1	1		0	0	71	0		1	9.999878e-01	0	15	0	66	0	51	237
ABCA13	154664	broad.mit.edu	37	7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	122					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ACAAGACCTGGCAGAGGAAAT	0.398																																						ENST00000435803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				270						c.(364-366)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 13							92.0	88.0	89.0					7																	48259027		1829	4086	5915	SO:0001583	missense	154664	0	0					g.chr7:48259027G>A	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.364G>A	chr7.hg19:g.48259027G>A	ENSP00000411096:p.Ala122Thr	0						p.A122T	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		4	388	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.364G>A	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499576	0.64298	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.58	4.69	0.59074	5.58	4.69	0.59074	.	0.000000	0.47455	D	0.000231	D	0.90916	0.7145	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65233	0.859;0.933	D	0.90794	0.4689	10	0.51188	T	0.08	.	12.2406	0.54540	0.0:0.0:0.8302:0.1698	.	122;122	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	T	122	ENSP00000411096:A122T	ENSP00000409268:A122T	A	+	1	0	0	ABCA13	48229573	48229573	0.834000	0.29399	0.069000	0.20011	0.532000	0.34746	1.626000	0.37039	1.466000	0.48025	0.655000	0.94253	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	0		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_152701			95	94		309	302	1		1	0		0	0	103	0		1	5.607747e-02	0	0	0	2	0	95	309
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						TGGAATGATGGACAAGGCAAA	0.423																																						ENST00000435803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				270						c.(388-390)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 13							118.0	112.0	114.0					7																	48259051		1856	4099	5955	SO:0001583	missense	154664	3	120816	36				g.chr7:48259051G>A	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.388G>A	chr7.hg19:g.48259051G>A	ENSP00000411096:p.Asp130Asn	0						p.D130N	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		4	412	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.388G>A	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391810	0.25118	.	.	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.58	3.77	0.43336	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	B;B	0.15141	0.002;0.012	B;B	0.14578	0.003;0.011	T	0.02610	-1.1134	10	0.27785	T	0.31	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	N	130	ENSP00000411096:D130N	ENSP00000409268:D130N	D	+	1	0	0	ABCA13	48229597	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	0		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_152701			100	99		390	379	1		1	0		0	0	123	0		1	1.889253e-01	0	0	0	4	0	100	390
ABCA13	154664	broad.mit.edu	37	7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	849					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						AAAAGAGCTAAATTGGAAAAC	0.299																																						ENST00000435803.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				270						c.(2545-2547)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 13							36.0	36.0	36.0					7																	48311809		1784	4057	5841	SO:0001583	missense	154664	0	0					g.chr7:48311809A>C	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.2546A>C	chr7.hg19:g.48311809A>C	ENSP00000411096:p.Lys849Thr	0						p.K849T	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		17	2570	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.2546A>C	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125226	0.06795	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	5.86	3.45	0.39498	5.86	3.45	0.39498	.	0.650904	0.14020	N	0.346875	T	0.76912	0.4054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58934	-0.7548	10	0.17832	T	0.49	.	6.849	0.24005	0.5738:0.2762:0.0:0.15	.	849	Q86UQ4	ABCAD_HUMAN	T	849	ENSP00000411096:K849T	ENSP00000411096:K849T	K	+	2	0	0	ABCA13	48282355	48282355	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.306000	0.19279	0.461000	0.27071	-0.299000	0.09455	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_152701			39	39		183	180	1		1	0		0	0	50	0		1	0	0	1	0	0	0	39	183
ABCA13	154664	broad.mit.edu	37	7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1477					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ACTTACTACAGTCTTTGAAAA	0.279																																						ENST00000435803.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.996658	0.990000	1.000000																										0				270						c.(4429-4431)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 13							24.0	25.0	24.0					7																	48313692		1799	4036	5835	SO:0001583	missense	154664	0	0					g.chr7:48313692G>A	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.4429G>A	chr7.hg19:g.48313692G>A	ENSP00000411096:p.Val1477Ile	0						p.V1477I	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		17	4453	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.4429G>A	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016142	0.07681	.	.	ENSG00000179869	ENST00000435803	D	0.86230	-2.09	5.44	0.957	0.19613	5.44	0.957	0.19613	.	0.864468	0.09652	N	0.773524	T	0.74619	0.3740	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.57359	-0.7825	9	.	.	.	.	0.6646	0.00848	0.2633:0.1254:0.3668:0.2445	.	1477	Q86UQ4	ABCAD_HUMAN	I	1477	ENSP00000411096:V1477I	.	V	+	1	0	0	ABCA13	48284238	48284238	0.092000	0.21681	0.047000	0.18901	0.509000	0.34042	0.727000	0.25999	0.369000	0.24510	-0.251000	0.11542	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.982960	1	0.170000	NM_152701			12	11		67	66	1		1	0		0	0	27	0		9.992617e-01	2.740139e-02	0	0	0	2	0	12	67
ABCA13	154664	broad.mit.edu	37	7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1789					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ATCACCAAGGAAGACTTCGCA	0.388																																						ENST00000435803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				270						c.(5365-5367)gAa>gGa		ATP-binding cassette, sub-family A (ABC1), member 13							49.0	47.0	48.0					7																	48314629		1874	4118	5992	SO:0001583	missense	154664	0	0					g.chr7:48314629A>G	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.5366A>G	chr7.hg19:g.48314629A>G	ENSP00000411096:p.Glu1789Gly	0						p.E1789G	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		17	5390	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.5366A>G	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606263	0.46527	.	.	ENSG00000179869	ENST00000435803	T	0.19938	2.11	5.92	4.74	0.60224	5.92	4.74	0.60224	.	0.131057	0.34314	N	0.004079	T	0.31734	0.0806	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.02365	-1.1170	9	.	.	.	.	11.2484	0.49010	0.8471:0.1529:0.0:0.0	.	1789	Q86UQ4	ABCAD_HUMAN	G	1789	ENSP00000411096:E1789G	.	E	+	2	0	0	ABCA13	48285175	48285175	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.938000	0.56583	1.029000	0.39812	0.455000	0.32223	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_152701			37	37		148	146	1		1	0		0	0	41	0		1	0	0	0	0	1	0	37	148
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.992844	0.990000	1.000000																										0				270						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	40.0	40.0					7																	48317894		1803	4069	5872	SO:0001583	missense	154664	0	0					g.chr7:48317894C>T	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.7103C>T	chr7.hg19:g.48317894C>T	ENSP00000411096:p.Ala2368Val	0						p.A2368V	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		18	7127	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	0	1	hg19	c.7103C>T	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	0	ABCA13	48288440	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.997220	1	0.170000	NM_152701			14	14		96	93	1		1	0		0	0	22	0		9.997829e-01	0	0	0	0	1	0	14	96
ABCA13	154664	broad.mit.edu	37	7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3390					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						GTTGCACATTGATGTAGACAA	0.383																																						ENST00000435803.1	1.000000	0.590000	1	9.100000e-01	0.990000	0.956683	0.990000	1.000000																										0				270						c.(10168-10170)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 13							60.0	60.0	60.0					7																	48378016		1892	4104	5996	SO:0001583	missense	154664	0	0					g.chr7:48378016G>A	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.10168G>A	chr7.hg19:g.48378016G>A	ENSP00000411096:p.Asp3390Asn	0						p.D3390N	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		29	10192	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	0	1	hg19	c.10168G>A	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935998	0.52972	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000085	D	0.89574	0.6754	L	0.56199	1.76	0.80722	D	1	P;D	0.71674	0.859;0.998	B;D	0.70935	0.301;0.971	D	0.88033	0.2776	10	0.34782	T	0.22	.	14.7439	0.69477	0.0:0.0:1.0:0.0	.	1092;3390	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3390	ENSP00000411096:D3390N	ENSP00000411096:D3390N	D	+	1	0	0	ABCA13	48348562	48348562	0.998000	0.40836	0.053000	0.19242	0.011000	0.07611	2.561000	0.45905	2.527000	0.85204	0.563000	0.77884	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-11.953740	1	0.170000	NM_152701			6	6		46	44	1		1	0		0	0	9	0		9.638568e-01	5.050505e-02	0	0	0	3	0	6	46
ABCA13	154664	broad.mit.edu	37	7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4593					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						CGGTTGCTAGCCATCATCTCC	0.448																																						ENST00000435803.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				270						c.(13777-13779)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							166.0	163.0	164.0					7																	48556458		1952	4155	6107	SO:0001583	missense	154664	0	0					g.chr7:48556458C>T	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.13778C>T	chr7.hg19:g.48556458C>T	ENSP00000411096:p.Ala4593Val	0					ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	p.A4593V	NM_152701.3	NP_689914.2	1	2	3	2.000345	Q86UQ4	ABCAD_HUMAN		52	13802	+			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	1	1	hg19	c.13778C>T	CCDS47584.1	1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848013	0.71603	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.08;-2.24;-2.2	5.35	4.47	0.54385	5.35	4.47	0.54385	.	0.000000	0.49305	D	0.000152	D	0.91778	0.7399	M	0.70595	2.14	0.41246	D	0.986678	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.91635	0.939;0.982;0.999	D	0.91041	0.4871	10	0.42905	T	0.14	.	11.201	0.48741	0.0:0.9155:0.0:0.0845	.	323;2295;4593	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4593;366;323	ENSP00000411096:A4593V;ENSP00000391042:A366V;ENSP00000442634:A323V	ENSP00000391042:A366V	A	+	2	0	0	ABCA13	48527004	48527004	0.909000	0.30893	0.973000	0.42090	0.979000	0.70002	1.548000	0.36201	1.233000	0.43693	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_152701			105	105		435	430	1		1	1		0	0	83	0		1	9.997164e-02	0	3	0	0	0	105	435
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T	rs201624892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	236	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507																																						ENST00000340652.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(706-708)tgC>tgT		von Willebrand factor C domain containing 2		C		0,4406		0,0,2203	235.0	190.0	205.0		708	-2.6	0.9	7		205	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	VWC2	NM_198570.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		236/326	49842318	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	375567	30	121412	48				g.chr7:49842318C>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.708C>T	chr7.hg19:g.49842318C>T		0						p.C236C	NM_198570.3	NP_940972.2	1	2	3	2.000345	Q2TAL6	VWC2_HUMAN		3	1264	+			Q6UXE2	Silent	SNP	ENST00000340652.4	1	1	hg19	c.708C>T	CCDS5508.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	0	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-4.045123	1	0.170000	NM_198570			99	97		472	459	1		1			0	0	110	0		1	0	0	0	0	0	0	99	472
IKZF1	10320	broad.mit.edu	37	7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	75					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				"""Rec,Dom"""	yes			Rec,Dom	yes		7	7p12.2	7p12.2	10320	D,T	IKAROS family zinc finger 1				L	L	BCL6		ALL, DLBCL		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	276						c.(223-225)gGg>gTg		IKAROS family zinc finger 1 (Ikaros)							148.0	153.0	152.0					7																	50444294		1977	4157	6134	SO:0001583	missense	10320	0	0					g.chr7:50444294G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.224G>T	chr7.hg19:g.50444294G>T	ENSP00000331614:p.Gly75Val	0					IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V	p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	1	2	3	2.000345	Q13422	IKZF1_HUMAN		4	379	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	1	1	hg19	c.224G>T		1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169750	0.57584	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07800	3.31;3.16;4.22;3.38;3.31;3.31	4.45	4.45	0.53987	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14924	-1.0455	9	0.87932	D	0	-15.7728	17.4837	0.87682	0.0:0.0:1.0:0.0	.	75;75	Q13422-7;Q13422	.;IKZF1_HUMAN	V	75	ENSP00000352123:G75V;ENSP00000401507:G75V;ENSP00000342485:G75V;ENSP00000349928:G75V;ENSP00000331614:G75V;ENSP00000413025:G75V	ENSP00000331614:G75V	G	+	2	0	0	IKZF1	50411788	50411788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.651000	0.67951	2.204000	0.70986	0.313000	0.20887	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-3.149895	1	0.170000	NM_006060			94	90		344	339	1		1	0		0	0	90	0		1	8.620756e-01	0	0	0	15	0	94	344
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				"""Rec,Dom"""	yes			Rec,Dom	yes		7	7p12.2	7p12.2	10320	D,T	IKAROS family zinc finger 1				L	L	BCL6		ALL, DLBCL		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	276						c.(379-381)atC>atT		IKAROS family zinc finger 1 (Ikaros)							64.0	65.0	65.0					7																	50444451		1947	4158	6105	SO:0001819	synonymous_variant	10320	0	0					g.chr7:50444451C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.381C>T	chr7.hg19:g.50444451C>T		0					IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I	p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	1	2	3	2.000345	Q13422	IKZF1_HUMAN		4	536	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	1	1	hg19	c.381C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-19.922160	1	0.170000	NM_006060			39	38		200	193	1		1	0		0	0	36	0		1	6.936720e-01	0	1	0	13	0	39	200
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999892	0.990000	1.000000				"""Rec,Dom"""	yes			Rec,Dom	yes		7	7p12.2	7p12.2	10320	D,T	IKAROS family zinc finger 1				L	L	BCL6		ALL, DLBCL		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	276						c.(847-849)Ctt>Att		IKAROS family zinc finger 1 (Ikaros)							46.0	45.0	45.0					7																	50459558		1834	4093	5927	SO:0001583	missense	10320	0	0					g.chr7:50459558C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.847C>A	chr7.hg19:g.50459558C>A	ENSP00000331614:p.Leu283Ile	0					IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	p.L283I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	1	2	3	2.000345	Q13422	IKZF1_HUMAN		7	1002	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	1	1	hg19	c.847C>A		1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136583	0.37728	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T	0.06142	3.34;3.46;3.43;3.34;3.46	5.23	4.35	0.52113	5.23	4.35	0.52113	.	0.060996	0.64402	D	0.000004	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B	0.22480	0.07;0.01;0.042	B;B;B	0.21360	0.034;0.03;0.015	T	0.38542	-0.9656	9	0.14252	T	0.57	-18.0347	13.6093	0.62068	0.0:0.2506:0.7494:0.0	.	196;241;283	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	I	196;241;283;196;241	ENSP00000342750:L196I;ENSP00000352123:L241I;ENSP00000331614:L283I;ENSP00000396554:L196I;ENSP00000413025:L241I	ENSP00000331614:L283I	L	+	1	0	0	IKZF1	50427052	50427052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	1.192000	0.43071	0.563000	0.77884	CTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_006060			18	17		77	76	1		1	0		0	0	18	0		9.999889e-01	4.094501e-01	0	0	0	7	0	18	77
IKZF1	10320	broad.mit.edu	37	7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	485					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				"""Rec,Dom"""	yes			Rec,Dom	yes		7	7p12.2	7p12.2	10320	D,T	IKAROS family zinc finger 1				L	L	BCL6		ALL, DLBCL		29	Unknown(28)|Substitution - Missense(1)	p.?(28)|p.G485D(1)	haematopoietic_and_lymphoid_tissue(28)|large_intestine(1)	276						c.(1453-1455)gGc>gTc		IKAROS family zinc finger 1 (Ikaros)							48.0	55.0	52.0					7																	50468219		2192	4296	6488	SO:0001583	missense	10320	0	0					g.chr7:50468219G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1454G>T	chr7.hg19:g.50468219G>T	ENSP00000331614:p.Gly485Val	0					IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V	p.G485V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	1	2	3	2.000345	Q13422	IKZF1_HUMAN		8	1609	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	1	1	hg19	c.1454G>T		1	.	.	.	.	.	.	.	.	.	.	G	31	5.065362	0.93898	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	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	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	.	.	.	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	T	0.71748	-0.4499	9	0.72032	D	0.01	-5.2298	19.9376	0.97146	0.0:0.0:1.0:0.0	.	398;255;398;443;485	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	255;398;443;342;398;485;398;443	ENSP00000340080:G255V;ENSP00000342750:G398V;ENSP00000352123:G443V;ENSP00000342485:G342V;ENSP00000349928:G398V;ENSP00000331614:G485V;ENSP00000396554:G398V;ENSP00000413025:G443V	ENSP00000331614:G485V	G	+	2	0	0	IKZF1	50435713	50435713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.899000	0.87370	2.711000	0.92665	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_006060			45	44		189	188	1		1	0		0	0	48	0		1	9.968452e-01	0	0	0	40	0	45	189
GRB10	2887	broad.mit.edu	37	7	50685801	50685801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000401949.1	-	10	1282	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000403097.1_Silent_p.Q265Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	271					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403									Russell-Silver syndrome																													ENST00000401949.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(811-813)caG>caA		growth factor receptor-bound protein 10							98.0	92.0	94.0					7																	50685801		1846	4099	5945	SO:0001819	synonymous_variant	2887	0	0		Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	g.chr7:50685801C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.813G>A	chr7.hg19:g.50685801C>T		0					GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000403097.1_Silent_p.Q265Q	p.Q271Q			1	2	3	2.000345	Q13322	GRB10_HUMAN		10	1282	-	Glioma(55;0.08)|all_neural(89;0.245)		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	1	1	hg19	c.813G>A	CCDS43582.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				64	64		250	245	1		1	1		0	0	68	0		1	1	0	36	0	87	0	64	250
GRB10	2887	broad.mit.edu	37	7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000401949.1	-	8	978	c.509T>G	c.(508-510)gTt>gGt	p.V170G	GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000403097.1_Missense_Mutation_p.V164G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	170	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383									Russell-Silver syndrome																													ENST00000401949.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(508-510)gTt>gGt		growth factor receptor-bound protein 10							216.0	211.0	212.0					7																	50694671		1936	4138	6074	SO:0001583	missense	2887	0	0		Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	g.chr7:50694671A>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.509T>G	chr7.hg19:g.50694671A>C	ENSP00000385770:p.Val170Gly	0					GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000403097.1_Missense_Mutation_p.V164G	p.V170G			1	2	3	2.000345	Q13322	GRB10_HUMAN		8	978	-	Glioma(55;0.08)|all_neural(89;0.245)		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	1	1	hg19	c.509T>G	CCDS43582.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471788	0.84533	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.18	5.18	0.71444	5.18	5.18	0.71444	Ras-association (3);	0.059542	0.64402	D	0.000002	T	0.46132	0.1377	M	0.73598	2.24	0.80722	D	1	D;D;D	0.62365	0.991;0.987;0.985	D;P;D	0.68039	0.94;0.875;0.955	T	0.49844	-0.8896	10	0.87932	D	0	-16.112	15.0634	0.71973	1.0:0.0:0.0:0.0	.	164;170;170	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	170;164;112;112;112;164;112;170;112;170;112	ENSP00000381793:V170G;ENSP00000406716:V164G;ENSP00000338543:V112G;ENSP00000381790:V112G;ENSP00000385189:V112G;ENSP00000385544:V164G;ENSP00000385366:V112G;ENSP00000349818:V170G;ENSP00000385046:V112G;ENSP00000385770:V170G;ENSP00000385748:V112G	ENSP00000338543:V112G	V	-	2	0	0	GRB10	50662165	50662165	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.339000	0.96797	1.961000	0.56991	0.533000	0.62120	GTT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1	1	0	1		2	2	2	0		0	0	223		223	220	1	2.060000	-20.000000	1	0.170000				188	183		818	795	1		1	1		0	0	223	0		1	1	0	34	0	96	0	188	818
COBL	23242	broad.mit.edu	37	7	51092833	51092833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000265136.7	-	12	3906	c.3741C>T	c.(3739-3741)tcC>tcT	p.S1247S	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.S1329S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1247	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				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)			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)					CCCCTGTGCCGGAGCGGATGG	0.632																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3739-3741)tcC>tcT		cordon-bleu WH2 repeat protein							122.0	121.0	121.0					7																	51092833		2203	4300	6503	SO:0001819	synonymous_variant	23242	0	0					g.chr7:51092833G>A	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.3741C>T	chr7.hg19:g.51092833G>A		0					COBL_ENST00000395542.2_Silent_p.S1329S|RP4-724E13.2_ENST00000582616.1_RNA	p.S1247S	NM_015198.3	NP_056013.2	1	2	3	2.000345	O75128	COBL_HUMAN		12	3906	-	Glioma(55;0.08)		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	1	1	hg19	c.3741C>T	CCDS34637.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	1	0	1		2	2	2	0		0	0	201		201	199	1	2.060000	-2.842426	1	0.170000	NM_015198			151	149		780	766	1		1	1		0	0	201	0		1	9.982132e-01	0	21	0	29	0	151	780
COBL	23242	broad.mit.edu	37	7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000265136.7	-	10	3455	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097					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)			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)					CTGGACAACAGGTTTGAATTT	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3289-3291)cCt>cTt		cordon-bleu WH2 repeat protein							179.0	160.0	167.0					7																	51095503		2203	4300	6503	SO:0001583	missense	23242	0	0					g.chr7:51095503G>A	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.3290C>T	chr7.hg19:g.51095503G>A	ENSP00000265136:p.Pro1097Leu	0					COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	p.P1097L	NM_015198.3	NP_056013.2	1	2	3	2.000345	O75128	COBL_HUMAN		10	3455	-	Glioma(55;0.08)		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	1	1	hg19	c.3290C>T	CCDS34637.1	1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808808	0.70797	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.62105	0.08;0.26;0.15;0.05	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.70237	0.3201	L	0.36672	1.1	0.49051	D	0.999742	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.72903	-0.4151	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.8378:0.1622	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1097;989;982;1179	ENSP00000265136:P1097L;ENSP00000401204:P989L;ENSP00000413498:P982L;ENSP00000378912:P1179L	ENSP00000265136:P1097L	P	-	2	0	0	COBL	51062997	51062997	1.000000	0.71417	0.088000	0.20740	0.969000	0.65631	5.495000	0.66912	2.440000	0.82611	0.563000	0.77884	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-3.401794	1	0.170000	NM_015198			123	122		542	533	1		1	1		0	0	123	0		1	1	0	51	0	69	0	123	542
COBL	23242	broad.mit.edu	37	7	51096022	51096022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51096022C>T	ENST00000265136.7	-	10	2936	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COBL_ENST00000395542.2_Missense_Mutation_p.G1006E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	924					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)			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)					ATCCTTCCATCCTTGTGTCTC	0.592																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7	1.000000	0.130000	4.400000e-01	2.000000e-01	0.300000	0.350001	0.300000	0.280000																										0				65						c.(2770-2772)gGa>gAa		cordon-bleu WH2 repeat protein							112.0	82.0	92.0					7																	51096022		2203	4300	6503	SO:0001583	missense	23242	0	0					g.chr7:51096022C>T	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.2771G>A	chr7.hg19:g.51096022C>T	ENSP00000265136:p.Gly924Glu	0					COBL_ENST00000395542.2_Missense_Mutation_p.G1006E	p.G924E	NM_015198.3	NP_056013.2	1	2	3	2.000345	O75128	COBL_HUMAN		10	2936	-	Glioma(55;0.08)		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	0	1	hg19	c.2771G>A	CCDS34637.1	0	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766409	0.02974	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10860	2.84;2.83;2.84;2.84	3.4	-2.19	0.07015	3.4	-2.19	0.07015	.	2.794910	0.01829	N	0.034593	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.43938	0.386;0.386;0.294;0.228;0.822	B;B;B;B;P	0.46543	0.124;0.178;0.057;0.083;0.52	T	0.14254	-1.0479	10	0.16420	T	0.52	.	0.8905	0.01253	0.2411:0.1759:0.3627:0.2203	.	924;981;924;1006;466	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	924;816;809;1006	ENSP00000265136:G924E;ENSP00000401204:G816E;ENSP00000413498:G809E;ENSP00000378912:G1006E	ENSP00000265136:G924E	G	-	2	0	0	COBL	51063516	51063516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.883000	0.04170	-0.642000	0.05480	0.557000	0.71058	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.486514	1	0.170000	NM_015198			8	8		327	322	0		1	1		0	0	64	0		9.889242e-01	7.382470e-01	0	3	0	104	0	8	327
COBL	23242	broad.mit.edu	37	7	51097021	51097021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51097021T>C	ENST00000265136.7	-	10	1937	c.1772A>G	c.(1771-1773)gAa>gGa	p.E591G	COBL_ENST00000395542.2_Missense_Mutation_p.E673G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	591					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)			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)					CCTTGCCTTTTCATGGGGCTG	0.537																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7	1.000000	0.160000	5.100000e-01	2.400000e-01	0.350000	0.396895	0.350000	0.320000																										0				65						c.(1771-1773)gAa>gGa		cordon-bleu WH2 repeat protein							69.0	59.0	62.0					7																	51097021		2203	4300	6503	SO:0001583	missense	23242	0	0					g.chr7:51097021T>C	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.1772A>G	chr7.hg19:g.51097021T>C	ENSP00000265136:p.Glu591Gly	0					COBL_ENST00000395542.2_Missense_Mutation_p.E673G	p.E591G	NM_015198.3	NP_056013.2	1	2	3	2.000345	O75128	COBL_HUMAN		10	1937	-	Glioma(55;0.08)		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	0	1	hg19	c.1772A>G	CCDS34637.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.93|11.93	1.784582|1.784582	0.31593|0.31593	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15|.	5.59|5.59	-6.78|-6.78	0.01721|0.01721	5.59|5.59	-6.78|-6.78	0.01721|0.01721	.|.	6.206590|.	0.00725|.	N|.	0.000909|.	T|.	0.06325|.	0.0163|.	N|N	0.00926|0.00926	-1.1|-1.1	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|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|.	0.29305|.	-1.0016|.	10|.	0.22706|.	T|.	0.39|.	.|.	1.6637|1.6637	0.02797|0.02797	0.419:0.164:0.2654:0.1516|0.419:0.164:0.2654:0.1516	.|.	591;648;591;673;133|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	G|W	591;483;476;673;89|566	ENSP00000265136:E591G;ENSP00000401204:E483G;ENSP00000413498:E476G;ENSP00000378912:E673G|.	ENSP00000265136:E591G|.	E|X	-|-	2|3	0|0	0|0	COBL|COBL	51064515|51064515	51064515|51064515	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.893000|-0.893000	0.04127|0.04127	-0.959000|-0.959000	0.03618|0.03618	-0.850000|-0.850000	0.03035|0.03035	GAA|TGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-9.306255	1	0.170000	NM_015198			8	8		280	277	0		1	1		0	0	49	0		9.891830e-01	4.194598e-01	0	4	0	43	0	8	280
VSTM2A	222008	broad.mit.edu	37	7	54612463	54612463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000407838.3	+	2	634	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000302287.3_Silent_p.A76A	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	76	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736																																						ENST00000407838.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(226-228)gcC>gcT		V-set and transmembrane domain containing 2A							13.0	16.0	15.0					7																	54612463		2194	4294	6488	SO:0001819	synonymous_variant	222008	0	0					g.chr7:54612463C>T	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.228C>T	chr7.hg19:g.54612463C>T		0					VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000302287.3_Silent_p.A76A	p.A76A	NM_182546.2	NP_872352.2	1	2	3	2.000345	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)	2	634	+			A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	1	1	hg19	c.228C>T	CCDS5512.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	1	0	1		2	2	2	0		0	0	17		17	15	1	2.060000	-20.000000	1	0.170000	NM_182546			50	50		90	90	0		1			0	0	17	0		1	0	0	0	0	0	0	50	90
SEC61G	23480	broad.mit.edu	37	7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|RP11-745C15.2_ENST00000439413.2_RNA|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q			P60059	SC61G_HUMAN	Sec61 gamma subunit	27					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)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353																																						ENST00000415949.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(79-81)Aaa>Caa		Sec61 gamma subunit							122.0	112.0	115.0					7																	54825203		2203	4300	6503	SO:0001583	missense	23480	0	0					g.chr7:54825203T>G	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.79A>C	chr7.hg19:g.54825203T>G	ENSP00000388337:p.Lys27Gln	0					SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q|SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|RP11-745C15.2_ENST00000439413.2_RNA	p.K27Q			1	2	3	2.000345	P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)	3	445	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		B2R4J0|P38384|Q6IB25	Missense_Mutation	SNP	ENST00000415949.1	1	1	hg19	c.79A>C	CCDS5513.1	1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428133	0.83667	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	.	.	.	0.80722	D	1	B	0.32188	0.359	B	0.44133	0.442	T	0.70894	-0.4748	8	0.87932	D	0	-5.6354	13.5768	0.61879	0.0:0.0:0.0:1.0	.	27	P60059	SC61G_HUMAN	Q	27	.	ENSP00000341538:K27Q	K	-	1	0	0	SEC61G	54792697	54792697	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.448000	0.80631	2.093000	0.63338	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_014302			58	57		251	246	1		1	1		0	0	88	0		1	1	0	267	0	740	0	58	251
EGFR	1956	broad.mit.edu	37	7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000275493.2	+	17	2182	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	669					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.R669*(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTCTTCATGCGAAGGCGCCA	0.667		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		8	yes	Dom	yes	Familial lung cancer	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	7p12.3-p12.1	1956	A, O, Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""				"""E, O"""	E, O		NSCLC	glioma, NSCLC		1	Substitution - Nonsense(1)	p.R669*(1)	endometrium(1)	14110						c.(2005-2007)Cga>Tga		epidermal growth factor receptor	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)						79.0	72.0	75.0					7																	55240761		2203	4300	6503	SO:0001587	stop_gained	1956	0	0		Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	g.chr7:55240761C>T		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.2005C>T	chr7.hg19:g.55240761C>T	ENSP00000275493:p.Arg669*	0	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*	p.R669*	NM_005228.3	NP_005219.2	1	2	3	2.000345	P00533	EGFR_HUMAN	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)	17	2182	+	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)		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	0	1	hg19	c.2005C>T	CCDS5514.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.579219	0.98870	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	.	.	.	5.96	1.75	0.24633	5.96	1.75	0.24633	.	0.048957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2219	0.43203	0.4977:0.3801:0.1222:0.0	.	.	.	.	X	624;539;669;616;463	.	ENSP00000275493:R669X	R	+	1	2	2	EGFR	55208255	55208255	1.000000	0.71417	0.677000	0.29947	0.924000	0.55760	1.702000	0.37836	0.348000	0.23949	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	0		2	2	2	0		0	0	88		88	85	1	2.060000	-20.000000	1	0.170000	NM_005228			73	73		357	349	1		1	0		0	0	88	0		1	9.957791e-01	0	0	0	43	0	73	357
EGFR	1956	broad.mit.edu	37	7	55240803	55240803	+	Missense_Mutation	SNP	C	C	A	rs55669340	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240803C>A	ENST00000275493.2	+	17	2224	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	EGFR_ENST00000454757.2_Missense_Mutation_p.L630M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L638M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	683					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)			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)	GCGGAGGCTGCTGCAGGAGAG	0.672		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		8	yes	Dom	yes	Familial lung cancer	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	7p12.3-p12.1	1956	A, O, Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""				"""E, O"""	E, O		NSCLC	glioma, NSCLC		0				14110						c.(2047-2049)Ctg>Atg		epidermal growth factor receptor	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)						47.0	46.0	46.0					7																	55240803		2203	4300	6503	SO:0001583	missense	1956	0	0		Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	g.chr7:55240803C>A		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.2047C>A	chr7.hg19:g.55240803C>A	ENSP00000275493:p.Leu683Met	0	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Missense_Mutation_p.L638M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L630M	p.L683M	NM_005228.3	NP_005219.2	1	2	3	2.000345	P00533	EGFR_HUMAN	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)	17	2224	+	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)		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	1	0	hg19	c.2047C>A	CCDS5514.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300320	0.81136	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.76578	-1.02;-1.03;-1.03	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.69823	2.125	0.50813	D	0.999895	D;D	0.71674	0.998;0.998	D;D	0.72625	0.943;0.978	D	0.87498	0.2431	10	0.59425	D	0.04	.	18.9566	0.92661	0.0:1.0:0.0:0.0	.	638;683	Q504U8;P00533	.;EGFR_HUMAN	M	638;553;683;630	ENSP00000415559:L638M;ENSP00000275493:L683M;ENSP00000395243:L630M	ENSP00000275493:L683M	L	+	1	2	2	EGFR	55208297	55208297	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.695000	0.68279	2.813000	0.96785	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-2.836734	1	0.170000	NM_005228			57	57		293	291	1		1	1		0	0	55	0		1	9.932941e-01	0	16	0	26	0	57	293
EGFR	1956	broad.mit.edu	37	7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000275493.2	+	20	2576	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			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)	TGCCTCCTGGACTATGTCCGG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		8	yes	Dom	yes	Familial lung cancer	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	7p12.3-p12.1	1956	A, O, Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""				"""E, O"""	E, O		NSCLC	glioma, NSCLC		0				14110						c.(2398-2400)gAc>gGc		epidermal growth factor receptor	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)						93.0	81.0	85.0					7																	55249101		2203	4300	6503	SO:0001583	missense	1956	0	0		Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	g.chr7:55249101A>G		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.2399A>G	chr7.hg19:g.55249101A>G	ENSP00000275493:p.Asp800Gly	0	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G	p.D800G	NM_005228.3	NP_005219.2	1	2	3	2.000345	P00533	EGFR_HUMAN	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)	20	2576	+	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)		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	1	1	hg19	c.2399A>G	CCDS5514.1	1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740451	0.89573	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	5.92	0.95590	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	L	0.49571	1.57	0.80722	D	1	P;D	0.89917	0.596;1.0	P;D	0.83275	0.464;0.996	T	0.77101	-0.2712	10	0.87932	D	0	.	15.1766	0.72916	1.0:0.0:0.0:0.0	.	755;800	Q504U8;P00533	.;EGFR_HUMAN	G	755;670;800;747	ENSP00000415559:D755G;ENSP00000275493:D800G;ENSP00000395243:D747G	ENSP00000275493:D800G	D	+	2	0	0	EGFR	55216595	55216595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.303000	0.96183	2.255000	0.74692	0.533000	0.62120	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.301598	1	0.170000	NM_005228			77	75		312	309	1		1	0		0	0	82	0		1	9.998787e-01	0	0	0	56	0	77	312
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000322090.3	+	6	576	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	183					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398																																						ENST00000322090.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(547-549)Gga>Aga		glioblastoma amplified sequence							84.0	85.0	84.0					7																	56051523		2203	4300	6503	SO:0001583	missense	2631	1	121412	28				g.chr7:56051523G>A	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.547G>A	chr7.hg19:g.56051523G>A	ENSP00000313050:p.Gly183Arg	0					GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	p.G183R	NM_001483.2	NP_001474.1	1	2	3	2.000345	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)	6	576	+	Breast(14;0.214)		C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	1	1	hg19	c.547G>A	CCDS5521.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743963	0.89663	.	.	ENSG00000146729	ENST00000446692;ENST00000322090;ENST00000446778;ENST00000437587	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.81	4.81	0.61882	4.81	4.81	0.61882	Dimeric alpha-beta barrel (1);	0.254452	0.45867	D	0.000337	T	0.68714	0.3031	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.61940	0.896;0.657	T	0.68671	-0.5347	10	0.20046	T	0.44	-16.0315	17.0441	0.86497	0.0:0.0:1.0:0.0	.	144;183	C9IYJ3;O75323	.;NIPS2_HUMAN	R	43;183;144;43	ENSP00000406336:G43R;ENSP00000313050:G183R;ENSP00000406855:G144R;ENSP00000401185:G43R	ENSP00000313050:G183R	G	+	1	0	0	GBAS	56019017	56019017	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	9.365000	0.97139	2.497000	0.84241	0.650000	0.86243	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-2.691222	1	0.170000	NM_001483			59	58		351	350	1		1	1		0	0	58	0		1	1	0	22	0	160	0	59	351
CCT6A	908	broad.mit.edu	37	7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|SNORA15_ENST00000384439.1_RNA|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'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)			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)			TTGTAACGTGTCATTAGAGTA	0.408																																						ENST00000275603.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				15						c.(706-708)Tca>Cca		chaperonin containing TCP1, subunit 6A (zeta 1)							75.0	66.0	69.0					7																	56125777		2203	4300	6503	SO:0001583	missense	908	0	0					g.chr7:56125777T>C	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.706T>C	chr7.hg19:g.56125777T>C	ENSP00000275603:p.Ser236Pro	0					SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P	p.S236P	NM_001762.3	NP_001753.1	1	2	3	2.000345	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)	6	925	+	Breast(14;0.214)		A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	1	1	hg19	c.706T>C	CCDS5523.1	1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344422	0.61073	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.45285	1.41	0.80722	D	1	D;B;B	0.58620	0.983;0.177;0.244	P;B;B	0.59948	0.866;0.174;0.215	T	0.77970	-0.2387	10	0.23891	T	0.37	-12.187	14.7035	0.69171	0.0:0.0:0.0:1.0	.	205;191;236	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	P	236;191;205;94	ENSP00000275603:S236P;ENSP00000352019:S191P;ENSP00000438488:S205P	ENSP00000275603:S236P	S	+	1	0	0	CCT6A	56093271	56093271	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	7.291000	0.78721	2.151000	0.67156	0.397000	0.26171	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_001762			33	31		156	152	1		1	1		0	0	58	0		1	1	0	197	0	391	0	33	156
PHKG1	5260	broad.mit.edu	37	7	56151035	56151035	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000297373.2	-	6	677	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000537360.1_Silent_p.N107N	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000297373.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				7						c.(481-483)aaC>aaT		phosphorylase kinase, gamma 1 (muscle)							100.0	93.0	95.0					7																	56151035		2203	4300	6503	SO:0001819	synonymous_variant	5260	0	0					g.chr7:56151035G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.483C>T	chr7.hg19:g.56151035G>A		0					PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000537360.1_Silent_p.N107N|PHKG1_ENST00000489604.1_5'Flank	p.N161N	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	1	2	3	2.000345	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)	6	677	-	Breast(14;0.214)		B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	1	1	hg19	c.483C>T	CCDS5525.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_006213			40	39		221	219	1		1	0		0	0	47	0		1	0	0	0	0	1	0	40	221
PHKG1	5260	broad.mit.edu	37	7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000297373.2	-	3	418	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_Silent_p.G39G	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000297373.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(223-225)gTg>gCg		phosphorylase kinase, gamma 1 (muscle)							77.0	51.0	60.0					7																	56155329		2203	4300	6503	SO:0001583	missense	5260	0	0					g.chr7:56155329A>G	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.224T>C	chr7.hg19:g.56155329A>G	ENSP00000297373:p.Val75Ala	0					PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000489604.1_5'UTR	p.V75A	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	1	2	3	2.000345	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)	3	418	-	Breast(14;0.214)		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	1	1	hg19	c.224T>C	CCDS5525.1	1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233249	0.58886	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66280	-0.2;1.02	5.42	5.42	0.78866	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095040	0.43747	D	0.000535	T	0.68100	0.2964	L	0.53561	1.675	0.80722	D	1	B;P;P	0.41008	0.064;0.735;0.613	B;B;P	0.51079	0.338;0.287;0.658	T	0.64554	-0.6380	10	0.27082	T	0.32	-36.2881	14.9413	0.70994	1.0:0.0:0.0:0.0	.	75;75;75	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	A	75	ENSP00000445440:V75A;ENSP00000297373:V75A	ENSP00000297373:V75A	V	-	2	0	0	PHKG1	56122823	56122823	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.273000	0.95719	2.189000	0.69895	0.460000	0.39030	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_006213			32	32		139	139	1		1			0	0	34	0		1	0	0	0	0	0	0	32	139
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A	rs552608919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000297373.2	-	3	300	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15519	0.0		0.0	False		,,,				2504	0.001				Melanoma(184;580 2064 5329 24177 35303)	ENST00000297373.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(106-108)Cga>Tga		phosphorylase kinase, gamma 1 (muscle)							57.0	47.0	50.0					7																	56155447		2203	4300	6503	SO:0001587	stop_gained	5260	2	121410	34				g.chr7:56155447G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.106C>T	chr7.hg19:g.56155447G>A	ENSP00000297373:p.Arg36*	0					PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR	p.R36*	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	1	2	3	2.000345	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)	3	300	-	Breast(14;0.214)		B7Z1D0|F5H2S1|Q75LP5	Nonsense_Mutation	SNP	ENST00000297373.2	0	1	hg19	c.106C>T	CCDS5525.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.852304	0.97885	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	.	.	.	5.42	4.53	0.55603	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7593	15.1354	0.72562	0.0:0.0:0.858:0.142	.	.	.	.	X	36	.	ENSP00000297373:R36X	R	-	1	2	2	PHKG1	56122941	56122941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.268000	0.51585	1.404000	0.46819	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-3.663666	1	0.170000	NM_006213			55	54		218	216	1		1	1		0	0	75	0		1	2.693533e-01	0	2	0	3	0	55	218
ZNF479	90827	broad.mit.edu	37	7	57187947	57187947	+	Missense_Mutation	SNP	C	C	T	rs370094356		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57187947C>T	ENST00000331162.4	-	5	1445	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TGCTGAGGAGCGCCTAAAGTC	0.448																																						ENST00000331162.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1174-1176)cGc>cAc		zinc finger protein 479		C	HIS/ARG	1,3835		0,1,1917	21.0	19.0	20.0		1175	-1.9	0.0	7		20	1,8037		0,1,4018	no	missense	ZNF479	NM_033273.1	29	0,2,5935	TT,TC,CC		0.0124,0.0261,0.0168	possibly-damaging	392/525	57187947	2,11872	1918	4019	5937	SO:0001583	missense	90827	5	120644	30				g.chr7:57187947C>T	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.1175G>A	chr7.hg19:g.57187947C>T	ENSP00000333776:p.Arg392His	0						p.R392H	NM_033273.1	NP_150376.1	1	2	3	2.000345	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)	5	1445	-				Missense_Mutation	SNP	ENST00000331162.4	1	0	hg19	c.1175G>A	CCDS43590.1	1	.	.	.	.	.	.	.	.	.	.	c	0.139	-1.104087	0.01828	2.61E-4	1.24E-4	ENSG00000185177	ENST00000331162	T	0.36340	1.26	0.946	-1.89	0.07689	0.946	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	N	0.21097	0.63	0.09310	N	1	D	0.60575	0.988	B	0.41466	0.358	T	0.17018	-1.0383	9	0.13108	T	0.6	.	2.1819	0.03877	0.2491:0.2114:0.0:0.5395	.	392	Q96JC4	ZN479_HUMAN	H	392	ENSP00000333776:R392H	ENSP00000333776:R392H	R	-	2	0	0	ZNF479	57191889	57191889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.551000	0.06027	-1.510000	0.01796	-1.496000	0.00964	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	1	0	1		2	2	2	0		0	0	38		38	67	1	2.060000	-20.000000	1	0.170000	XM_291202			41	29		173	112	0		1			0	0	38	0		1	0	0	0	0	0	0	41	173
ZNF107	51427	broad.mit.edu	37	7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D|ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)				CATGGAAAAGCTTTTAACCTA	0.338																																						ENST00000395391.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1762-1764)gCt>gAt		zinc finger protein 107							45.0	52.0	49.0					7																	64168445		2201	4296	6497	SO:0001583	missense	51427	0	0					g.chr7:64168445C>A	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.1763C>A	chr7.hg19:g.64168445C>A	ENSP00000378789:p.Ala588Asp	0					ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D|ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D	p.A588D			1	2	3	2.000345	Q9UII5	ZN107_HUMAN		4	3138	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)		Missense_Mutation	SNP	ENST00000395391.1	1	1	hg19	c.1763C>A	CCDS5527.1	1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575081	0.45902	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.17213	2.29;2.29;2.29	1.27	1.27	0.21489	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.46741	1.465	0.21822	N	0.999529	D	0.69078	0.997	D	0.75020	0.985	T	0.07462	-1.0771	8	.	.	.	.	5.2825	0.15682	0.0:0.6307:0.3693:0.0	.	588	Q9UII5	ZN107_HUMAN	D	588	ENSP00000343443:A588D;ENSP00000400037:A588D;ENSP00000378789:A588D	.	A	+	2	0	0	ZNF107	63805880	63805880	0.000000	0.05858	0.216000	0.23742	0.459000	0.32528	0.444000	0.21661	0.635000	0.30488	0.313000	0.20887	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_016220			56	56		288	282	1		1	0		0	0	61	0		1	1.934687e-01	0	0	0	5	0	56	288
ZNF273	10793	broad.mit.edu	37	7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	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)			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)				CATAAGATAATTCATACTGGA	0.348																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1351-1353)aTt>aGt		zinc finger protein 273							32.0	35.0	34.0					7																	64389058		2201	4298	6499	SO:0001583	missense	10793	0	0					g.chr7:64389058T>G	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.1352T>G	chr7.hg19:g.64389058T>G	ENSP00000418719:p.Ile451Ser	0					ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	p.I451S	NM_021148.2	NP_066971.2	1	2	3	2.000345	Q14593	ZN273_HUMAN		4	1423	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	1	1	hg19	c.1352T>G	CCDS5528.2	1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883389	0.51908	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.00659	5.94;5.94	1.16	1.16	0.20824	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	N	0.11106	0.095	0.28238	N	0.925795	P	0.35226	0.491	P	0.50934	0.654	T	0.51896	-0.8647	9	0.72032	D	0.01	.	5.7517	0.18150	0.0:0.0:0.0:1.0	.	451	Q14593	ZN273_HUMAN	S	451;386	ENSP00000418719:I451S;ENSP00000324518:I386S	ENSP00000324518:I386S	I	+	2	0	0	ZNF273	64026493	64026493	0.000000	0.05858	0.826000	0.32828	0.824000	0.46624	-0.280000	0.08468	0.175000	0.19841	0.172000	0.16884	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				46	46		179	176	1		1	0		0	0	35	0		1	1.112148e-01	0	1	0	2	0	46	179
ZNF273	10793	broad.mit.edu	37	7	64389265	64389265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	ENST00000476120.1	+	4	1630	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)				GAAGAATGTGGCAAAGCTTTT	0.378																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1	1.000000	0.730000	1	8.600000e-01	0.990000	0.952008	0.990000	1.000000																										0				16						c.(1558-1560)gGc>gAc		zinc finger protein 273							58.0	63.0	61.0					7																	64389265		2203	4300	6503	SO:0001583	missense	10793	0	0					g.chr7:64389265G>A	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.1559G>A	chr7.hg19:g.64389265G>A	ENSP00000418719:p.Gly520Asp	0					ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	p.G520D	NM_021148.2	NP_066971.2	1	2	3	2.000345	Q14593	ZN273_HUMAN		4	1630	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	1	0	hg19	c.1559G>A	CCDS5528.2	1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733462	0.69189	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07444	3.19;3.19	1.16	1.16	0.20824	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	M	0.64080	1.96	0.42039	D	0.99106	B	0.24483	0.104	B	0.35727	0.209	T	0.05750	-1.0866	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	520	Q14593	ZN273_HUMAN	D	520;455	ENSP00000418719:G520D;ENSP00000324518:G455D	ENSP00000324518:G455D	G	+	2	0	0	ZNF273	64026700	64026700	0.994000	0.37717	0.818000	0.32626	0.818000	0.46254	1.598000	0.36740	0.202000	0.20498	0.205000	0.17691	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.458455	0	0.170000				35	31		372	361	0		1	0		0	0	81	0		1	2.225560e-02	0	0	0	3	0	35	372
ZNF117	51351	broad.mit.edu	37	7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	357					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)			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)				GGTTTCTCTCCAGTATGAATT	0.388																																						ENST00000282869.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1069-1071)Gga>Aga		zinc finger protein 117							72.0	75.0	74.0					7																	64438880		2152	4275	6427	SO:0001583	missense	51351	0	0					g.chr7:64438880C>T	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.1069G>A	chr7.hg19:g.64438880C>T	ENSP00000282869:p.Gly357Arg	0						p.G357R	NM_015852.3	NP_056936.2	1	2	3	2.000345	Q03924	ZN117_HUMAN		4	2353	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	1	1	hg19	c.1069G>A	CCDS43593.1	1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884060	0.51908	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.26223	1.75	1.11	1.11	0.20524	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	M	0.66939	2.045	0.41668	D	0.98922	P	0.37398	0.593	B	0.38683	0.279	T	0.10222	-1.0639	9	0.62326	D	0.03	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	357	Q03924	ZN117_HUMAN	R	357	ENSP00000282869:G357R	ENSP00000282869:G357R	G	-	1	0	0	ZNF117	64076315	64076315	0.029000	0.19370	0.150000	0.22450	0.056000	0.15407	2.078000	0.41567	0.518000	0.28383	0.313000	0.20887	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-2.696422	1	0.170000	NM_024498			73	72		386	376	1		1	0		0	0	107	0		1	1.845490e-01	0	0	0	5	0	73	386
GUSB	2990	broad.mit.edu	37	7	65444521	65444521	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65444521T>C	ENST00000304895.4	-	4	719	c.589A>G	c.(589-591)Aag>Gag	p.K197E	GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	197					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGTAACCCTTGGGATACCTA	0.547																																						ENST00000304895.4	1.000000	0.170000	4.600000e-01	2.300000e-01	0.320000	0.372184	0.320000	0.310000																										0				20						c.(589-591)Aag>Gag		glucuronidase, beta							94.0	93.0	93.0					7																	65444521		2203	4300	6503	SO:0001583	missense	2990	0	0					g.chr7:65444521T>C	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.589A>G	chr7.hg19:g.65444521T>C	ENSP00000302728:p.Lys197Glu	0					GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000476486.1_5'UTR	p.K197E	NM_000181.3	NP_000172.2	1	2	3	2.000345	P08236	BGLR_HUMAN		4	719	-			B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	0	1	hg19	c.589A>G	CCDS5530.1	0	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846587	0.51164	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94758	-3.51;-3.51	5.27	5.27	0.74061	5.27	5.27	0.74061	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.343573	0.36034	N	0.002824	D	0.89213	0.6651	N	0.25332	0.735	0.33520	D	0.592243	B	0.14438	0.01	B	0.12156	0.007	D	0.86877	0.2039	10	0.14656	T	0.56	.	14.4435	0.67333	0.0:0.0:0.0:1.0	.	197	P08236	BGLR_HUMAN	E	197	ENSP00000302728:K197E;ENSP00000340734:K197E	ENSP00000302728:K197E	K	-	1	0	0	GUSB	65081956	65081956	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.694000	0.47035	1.995000	0.58328	0.454000	0.30748	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	0	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-10.616340	1	0.170000	NM_000181			11	11		406	397	0		1	1		0	0	59	0		9.981718e-01	9.986393e-01	0	9	0	421	0	11	406
ASL	435	broad.mit.edu	37	7	65557861	65557861	+	Missense_Mutation	SNP	C	C	T	rs144591360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65557861C>T	ENST00000304874.9	+	17	1459	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000395332.3_Missense_Mutation_p.R453C|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000380839.4_Missense_Mutation_p.R427C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	453					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTGGCAGATCCGCCAGGTGCG	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.001					ENST00000304874.9	1.000000	0.160000	5.000000e-01	2.400000e-01	0.340000	0.393563	0.340000	0.320000																										0				18						c.(1357-1359)Cgc>Tgc		argininosuccinate lyase	L-Arginine(DB00125)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		1357,1357,1297,1279	-8.9	0.0	7	dbSNP_134	35	0,8598		0,0,4299	yes	missense,missense,missense,missense	ASL	NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1	180,180,180,180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	453/465,453/465,433/445,427/439	65557861	1,13003	2203	4299	6502	SO:0001583	missense	435	21	121262	44				g.chr7:65557861C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1357C>T	chr7.hg19:g.65557861C>T	ENSP00000307188:p.Arg453Cys	0					ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000380839.4_Missense_Mutation_p.R427C|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R433C	p.R453C	NM_000048.3	NP_000039.2	1	2	3	2.000345	P04424	ARLY_HUMAN		17	1459	+			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	0	1	hg19	c.1357C>T	CCDS5531.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	11.57	1.677791	0.29783	2.27E-4	0.0	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51	5.53	-8.89	0.00785	5.53	-8.89	0.00785	L-Aspartase-like (1);	0.713318	0.14248	N	0.331614	D	0.96670	0.8913	M	0.78049	2.395	0.25305	N	0.989249	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	D	0.87673	0.2542	10	0.72032	D	0.01	.	4.0702	0.09879	0.3506:0.2577:0.3189:0.0728	.	427;433;453	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	C	453;427;453;433	ENSP00000307188:R453C;ENSP00000370219:R427C;ENSP00000378741:R453C;ENSP00000378740:R433C	ENSP00000307188:R453C	R	+	1	0	0	ASL	65195296	65195296	0.002000	0.14202	0.009000	0.14445	0.611000	0.37282	-0.279000	0.08479	-1.686000	0.01439	-1.332000	0.01269	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.630276	1	0.170000	NM_000048			9	9		315	314	0		1	1		0	0	40	0		9.942251e-01	8.076796e-01	0	3	0	106	0	9	315
TPST1	8460	broad.mit.edu	37	7	65706099	65706099	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65706099T>C	ENST00000304842.5	+	2	1112	c.687T>C	c.(685-687)gtT>gtC	p.V229V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	229					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGGAGGTTGGTTATAAAA	0.403																																						ENST00000304842.5	1.000000	0.210000	5.900000e-01	3.000000e-01	0.420000	0.464378	0.420000	0.390000																										0				11						c.(685-687)gtT>gtC		tyrosylprotein sulfotransferase 1							120.0	101.0	107.0					7																	65706099		2203	4300	6503	SO:0001819	synonymous_variant	8460	0	0					g.chr7:65706099T>C	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.687T>C	chr7.hg19:g.65706099T>C		0					TPST1_ENST00000480281.1_Intron	p.V229V	NM_003596.3	NP_003587.1	1	2	3	2.000345	O60507	TPST1_HUMAN		2	1112	+			A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	1	1	hg19	c.687T>C	CCDS5533.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	0	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-11.748080	1	0.170000	NM_003596			10	10		284	281	0		1	1		0	0	44	0		9.968552e-01	7.251523e-01	0	3	0	70	0	10	284
RABGEF1	27342	broad.mit.edu	37	7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000284957.5	+	8	1113	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	563					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCAAGCCGACTGATGAC	0.498																																						ENST00000284957.5	1.000000	0.840000	1	9.900000e-01	0.990000	0.986991	0.990000	1.000000																										0				27						c.(1036-1038)Cga>Tga		RAB guanine nucleotide exchange factor (GEF) 1							101.0	88.0	93.0					7																	66270342		2203	4300	6503	SO:0001587	stop_gained	27342	0	0					g.chr7:66270342C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1036C>T	chr7.hg19:g.66270342C>T	ENSP00000284957:p.Arg346*	0					KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*	p.R346*			1	2	3	2.000345	Q9UJ41	RABX5_HUMAN		8	1113	+			B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Nonsense_Mutation	SNP	ENST00000284957.5	0	0	hg19	c.1036C>T	CCDS5535.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.971006	0.97971	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4757	12.27	0.54700	0.2678:0.7322:0.0:0.0	.	.	.	.	X	430;386;346;346;262;346;346;359;360	.	ENSP00000370207:R430X	R	+	1	2	2	RABGEF1;KCTD7	65907777	65907777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.726000	0.38085	2.643000	0.89663	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-2.966611	1	0.170000	NM_014504			42	41		391	378	1		1	1		0	0	101	0		1	9.999691e-01	0	10	0	135	0	42	391
RABGEF1	27342	broad.mit.edu	37	7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000284957.5	+	9	1533	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	703	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						ACCACTGCAACCTCAAGTTTA	0.398																																						ENST00000284957.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1456-1458)Cct>Tct		RAB guanine nucleotide exchange factor (GEF) 1							50.0	50.0	50.0					7																	66274251		2203	4300	6503	SO:0001583	missense	27342	0	0					g.chr7:66274251C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1456C>T	chr7.hg19:g.66274251C>T	ENSP00000284957:p.Pro486Ser	0					KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|GTF2IRD1P1_ENST00000457166.1_RNA	p.P486S			1	2	3	2.000345	Q9UJ41	RABX5_HUMAN		9	1533	+			B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	1	1	hg19	c.1456C>T	CCDS5535.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955184	0.92726	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.69561	-0.41;-0.09;-0.09;-0.09;-0.09;-0.2;-0.21	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	T	0.81464	-0.0921	10	0.72032	D	0.01	-21.9137	19.2161	0.93778	0.0:1.0:0.0:0.0	.	500;320;703	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	S	570;526;486;486;402;486;486;499;500	ENSP00000370208:P526S;ENSP00000421124:P486S;ENSP00000398177:P486S;ENSP00000284957:P486S;ENSP00000415815:P486S;ENSP00000403429:P499S;ENSP00000390480:P500S	ENSP00000370207:P570S	P	+	1	0	0	RABGEF1;KCTD7	65911686	65911686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.778000	0.95560	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	0	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_014504			55	55		296	293	0		1	1		0	0	76	0		1	9.999999e-01	0	40	0	89	0	55	296
TYW1	55253	broad.mit.edu	37	7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	322					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408																																						ENST00000359626.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(964-966)Gat>Aat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							141.0	136.0	138.0					7																	66489989		2203	4300	6503	SO:0001583	missense	55253	0	0					g.chr7:66489989G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.964G>A	chr7.hg19:g.66489989G>A	ENSP00000352645:p.Asp322Asn	0						p.D322N	NM_018264.2	NP_060734.2	1	2	3	2.000345	Q9NV66	TYW1_HUMAN		7	1128	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	1	1	hg19	c.964G>A	CCDS5538.1	1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033688	0.02029	.	.	ENSG00000198874	ENST00000359626	T	0.16457	2.34	4.66	0.307	0.15811	4.66	0.307	0.15811	.	0.696409	0.12879	N	0.431594	T	0.05640	0.0148	N	0.02916	-0.46	0.22541	N	0.99901	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.09590	T	0.72	.	7.7957	0.29146	0.5755:0.0:0.4245:0.0	.	322	Q9NV66	TYW1_HUMAN	N	322	ENSP00000352645:D322N	ENSP00000352645:D322N	D	+	1	0	0	TYW1	66127424	66127424	0.798000	0.28890	0.135000	0.22099	0.494000	0.33585	1.228000	0.32588	-0.153000	0.11137	0.313000	0.20887	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	1	0	1		2	2	2	0		0	0	84		84	85	1	2.060000	-3.502727	1	0.170000	NM_018264			88	83		371	356	1		1	1		0	0	84	0		1	9.998398e-01	0	12	0	44	0	88	371
TYW1	55253	broad.mit.edu	37	7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	345					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373																																						ENST00000359626.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				46						c.(1033-1035)Ggg>Agg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							57.0	57.0	57.0					7																	66514984		2203	4296	6499	SO:0001583	missense	55253	0	0					g.chr7:66514984G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1033G>A	chr7.hg19:g.66514984G>A	ENSP00000352645:p.Gly345Arg	0						p.G345R	NM_018264.2	NP_060734.2	1	2	3	2.000345	Q9NV66	TYW1_HUMAN		8	1197	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	0	1	hg19	c.1033G>A	CCDS5538.1	1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190598	0.06299	.	.	ENSG00000198874	ENST00000359626	T	0.17691	2.26	3.92	2.99	0.34606	3.92	2.99	0.34606	.	0.653207	0.13336	U	0.395557	T	0.14960	0.0361	L	0.39898	1.24	0.30899	N	0.729503	B	0.25563	0.129	B	0.30029	0.11	T	0.18304	-1.0341	10	0.16420	T	0.52	.	11.1751	0.48595	0.0:0.1887:0.8113:0.0	.	345	Q9NV66	TYW1_HUMAN	R	345	ENSP00000352645:G345R	ENSP00000352645:G345R	G	+	1	0	0	TYW1	66152419	66152419	0.127000	0.22367	0.224000	0.23877	0.076000	0.17211	1.244000	0.32778	0.931000	0.37242	0.563000	0.77884	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	1	0	1		2	2	2	0		0	0	47		47	63	1	2.060000	-3.087081	1	0.170000	NM_018264			41	35		228	195	1		1	1		0	0	47	0		1	9.661555e-01	0	9	0	24	0	41	228
TYW1	55253	broad.mit.edu	37	7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	624					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488																																						ENST00000359626.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1870-1872)Cat>Tat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							163.0	153.0	156.0					7																	66660217		2203	4300	6503	SO:0001583	missense	55253	0	0					g.chr7:66660217C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1870C>T	chr7.hg19:g.66660217C>T	ENSP00000352645:p.His624Tyr	0						p.H624Y	NM_018264.2	NP_060734.2	1	2	3	2.000345	Q9NV66	TYW1_HUMAN		15	2034	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	1	1	hg19	c.1870C>T	CCDS5538.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943301	0.53079	.	.	ENSG00000198874	ENST00000359626	T	0.51574	0.7	3.7	3.7	0.42460	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000001	T	0.46870	0.1415	L	0.56340	1.77	0.80722	D	1	B	0.25235	0.121	B	0.34779	0.189	T	0.45891	-0.9230	10	0.33940	T	0.23	.	13.2966	0.60301	0.0:1.0:0.0:0.0	.	624	Q9NV66	TYW1_HUMAN	Y	624	ENSP00000352645:H624Y	ENSP00000352645:H624Y	H	+	1	0	0	TYW1	66297652	66297652	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.626000	0.74253	1.755000	0.51935	0.514000	0.50259	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	0	0	0		17	4	2	1		1	1	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_018264			105	106		421	410	1		1	1		1	0	107	0		1	9.945393e-01	0	17	0	35	0	105	421
PMS2P4	5382	broad.mit.edu	37	7	66767872	66767872	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66767872G>A	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		GCCACCTACAGGTAGGAGCGC	0.746																																						ENST00000414507.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997331	0.990000	1.000000																										0												postmeiotic segregation increased 2 pseudogene 4																																						5382	0	0					g.chr7:66767872G>A	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		chr7.hg19:g.66767872G>A		0					STAG3L4_ENST00000416602.2_RNA				1	2	3	2.000345				0	0	-				RNA	SNP	ENST00000414507.1	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.746	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	0	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-19.998650	1	0.170000	NR_022007			9	9		38	36	0		1	0		0	0	12	1		9.948013e-01	8.857108e-01	0	0	0	19	0	9	38
AUTS2	26053	broad.mit.edu	37	7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582																																						ENST00000342771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1483-1485)cGa>cAa		autism susceptibility candidate 2							134.0	129.0	131.0					7																	70231115		2203	4300	6503	SO:0001583	missense	26053	0	0					g.chr7:70231115G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1484G>A	chr7.hg19:g.70231115G>A	ENSP00000344087:p.Arg495Gln	0					AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	p.R495Q	NM_015570.2	NP_056385.1	1	2	3	2.000345	Q8WXX7	AUTS2_HUMAN		9	1805	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	1	1	hg19	c.1484G>A	CCDS5539.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468726|5.468726	0.96274|0.96274	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.54071	.|0.59;0.59	5.77|5.77	5.77|5.77	0.91146|0.91146	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.114328	.|0.64402	.|D	.|0.000016	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63843|0.63843	1.955|1.955	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	0.68307|0.68307	-0.5443|-0.5443	5|9	.|.	.|.	.|.	-9.7214|-9.7214	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;495	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	N|Q	37|495	.|ENSP00000385263:R495Q;ENSP00000344087:R495Q	.|.	D|R	+|+	1|2	0|0	0|0	AUTS2|AUTS2	69869051|69869051	69869051|69869051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.159000|9.159000	0.94728|0.94728	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-20.000000	1	0.170000				74	71		328	316	1		1	1		0	0	70	0		1	9.999922e-01	0	5	0	72	0	74	328
AUTS2	26053	broad.mit.edu	37	7	70231305	70231305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627																																						ENST00000342771.4	1.000000	0.840000	1	9.900000e-01	0.990000	0.986661	0.990000	1.000000																										0				50						c.(1672-1674)acG>acA		autism susceptibility candidate 2							196.0	183.0	188.0					7																	70231305		2203	4300	6503	SO:0001819	synonymous_variant	26053	1	121404	26				g.chr7:70231305G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1674G>A	chr7.hg19:g.70231305G>A		0					AUTS2_ENST00000406775.2_Silent_p.T558T	p.T558T	NM_015570.2	NP_056385.1	1	2	3	2.000345	Q8WXX7	AUTS2_HUMAN		9	1995	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	1	1	hg19	c.1674G>A	CCDS5539.1	1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054992	0.19907	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.32	4.38	0.52667	5.32	4.38	0.52667	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	-7.7806	12.7117	0.57094	0.0:0.0:0.7115:0.2884	.	.	.	.	H	100	.	.	R	+	2	0	0	AUTS2	69869241	69869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	2.498000	0.84270	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-3.075756	1	0.170000				35	34		319	311	1		1	1		0	0	54	0		1	9.960705e-01	0	4	0	76	0	35	319
AUTS2	26053	broad.mit.edu	37	7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	616										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488																																						ENST00000342771.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1846-1848)Gat>Aat		autism susceptibility candidate 2							127.0	100.0	109.0					7																	70239029		2203	4300	6503	SO:0001583	missense	26053	1	121412	30				g.chr7:70239029G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1846G>A	chr7.hg19:g.70239029G>A	ENSP00000344087:p.Asp616Asn	0					AUTS2_ENST00000406775.2_Intron	p.D616N	NM_015570.2	NP_056385.1	1	2	3	2.000345	Q8WXX7	AUTS2_HUMAN		12	2167	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	1	1	hg19	c.1846G>A	CCDS5539.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463611	0.84425	.	.	ENSG00000158321	ENST00000342771	T	0.35973	1.28	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.52011	1.625	0.80722	D	1	D;D	0.63880	0.966;0.993	P;P	0.52109	0.45;0.69	T	0.15694	-1.0428	9	.	.	.	-21.3555	19.609	0.95594	0.0:0.0:1.0:0.0	.	68;616	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	N	616	ENSP00000344087:D616N	.	D	+	1	0	0	AUTS2	69876965	69876965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.408000	0.97327	2.882000	0.98803	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000				45	43		199	197	1		1	0		0	0	49	0		1	9.890981e-01	0	0	0	34	0	45	199
AUTS2	26053	broad.mit.edu	37	7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	rs148604002	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		13907	0.001		0.001	False		,,,				2504	0.0					ENST00000342771.4	1.000000	0.880000	1	9.900000e-01	0.990000	0.993156	0.990000	1.000000																										0				50						c.(3775-3777)cGa>cAa		autism susceptibility candidate 2		G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	20.0	22.0	21.0		3704,3776	5.1	0.2	7	dbSNP_134	21	2,8592		0,2,4295	yes	missense,missense	AUTS2	NM_001127231.1,NM_015570.2	43,43	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1235/1236,1259/1260	70255978	2,12996	2202	4297	6499	SO:0001583	missense	26053	16	115096	38				g.chr7:70255978G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3776G>A	chr7.hg19:g.70255978G>A	ENSP00000344087:p.Arg1259Gln	0					AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	p.R1259Q	NM_015570.2	NP_056385.1	1	2	3	2.000345	Q8WXX7	AUTS2_HUMAN		19	4097	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	1	1	hg19	c.3776G>A	CCDS5539.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.09	3.759010	0.69763	0.0	2.33E-4	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.65364	-0.11;-0.15	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.99	T	0.74671	-0.3587	9	.	.	.	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;1235;1259	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	1235;1259	ENSP00000385263:R1235Q;ENSP00000344087:R1259Q	.	R	+	2	0	0	AUTS2	69893914	69893914	1.000000	0.71417	0.192000	0.23308	0.238000	0.25445	7.416000	0.80143	2.391000	0.81399	0.655000	0.94253	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-19.973150	1	0.170000				13	13		86	83	1		1	1		0	0	26	0		9.995792e-01	9.985580e-01	0	15	0	64	0	13	86
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	G	A	rs187881207	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000434423.2	+	11	2727	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000395270.1_Silent_p.T644T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side. {ECO:0000255}.|Thr-rich.				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)				CCGTGCCAACGGCCACCAGCA	0.627													.|||	2	0.000399361	0.0	0.0	5008	,	,		18987	0.0		0.002	False		,,,				2504	0.0					ENST00000434423.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2725-2727)acG>acA		POM121 transmembrane nucleoporin							66.0	81.0	76.0					7																	72413259		2107	4261	6368	SO:0001819	synonymous_variant	9883	3	120882	32				g.chr7:72413259G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2727G>A	chr7.hg19:g.72413259G>A		0					POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000395270.1_Silent_p.T644T	p.T909T			1	2	3	2.000345	Q96HA1	P121A_HUMAN		11	2727	+		Lung NSC(55;0.163)	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	1	1	hg19	c.2727G>A		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	0	0	0		2	2	2	0		0	0	68		68	91	1	2.060000	-13.476100	1	0.170000				143	132		286	268	0		1	1		0	0	68	0		1	9.999156e-01	0	15	0	16	0	143	286
POM121	9883	broad.mit.edu	37	7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000434423.2	+	11	2923	c.2923G>A	c.(2923-2925)Gct>Act	p.A975T	POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000395270.1_Missense_Mutation_p.A710T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	975	Pore side. {ECO:0000255}.				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)				ATTTGGGGCCGCTGAGGGGCA	0.652																																						ENST00000434423.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2923-2925)Gct>Act		POM121 transmembrane nucleoporin							16.0	24.0	21.0					7																	72413455		2153	4247	6400	SO:0001583	missense	9883	3	121082	34				g.chr7:72413455G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2923G>A	chr7.hg19:g.72413455G>A	ENSP00000405562:p.Ala975Thr	0					POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000395270.1_Missense_Mutation_p.A710T	p.A975T			1	2	3	2.000345	Q96HA1	P121A_HUMAN		11	2923	+		Lung NSC(55;0.163)	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	1	1	hg19	c.2923G>A		1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292911	0.00245	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.65	2.33	-1.67	0.08238	2.33	-1.67	0.08238	.	0.482456	0.15496	N	0.259272	T	0.01976	0.0062	N	0.03050	-0.425	0.09310	N	1	B;B	0.23650	0.089;0.041	B;B	0.16722	0.016;0.008	T	0.48068	-0.9067	10	0.10111	T	0.7	.	6.8782	0.24158	0.3294:0.0:0.6706:0.0	.	710;975	A8MXF9;Q96HA1	.;P121A_HUMAN	T	710;710;710;710;975	ENSP00000393020:A710T;ENSP00000257622:A710T;ENSP00000378687:A710T;ENSP00000351124:A710T;ENSP00000405562:A975T	ENSP00000257622:A710T	A	+	1	0	0	POM121	72051391	72051391	0.000000	0.05858	0.129000	0.21949	0.087000	0.18053	-0.483000	0.06536	-0.190000	0.10465	0.173000	0.16961	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	1	0	1		2	2	2	0		0	0	75		75	101	1	2.060000	-20.000000	1	0.170000				97	86		445	411	0		1	1		0	0	75	0		1	8.768774e-01	0	7	0	12	0	97	445
POM121	9883	broad.mit.edu	37	7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000434423.2	+	11	3139	c.3139T>G	c.(3139-3141)Ttc>Gtc	p.F1047V	POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000395270.1_Missense_Mutation_p.F782V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side. {ECO:0000255}.				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)				GGCTTCGGCCTTCGGCGCTCC	0.647																																						ENST00000434423.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				41						c.(3139-3141)Ttc>Gtc		POM121 transmembrane nucleoporin							40.0	41.0	40.0					7																	72413671		2203	4296	6499	SO:0001583	missense	9883	0	0					g.chr7:72413671T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3139T>G	chr7.hg19:g.72413671T>G	ENSP00000405562:p.Phe1047Val	0					POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000395270.1_Missense_Mutation_p.F782V	p.F1047V			1	2	3	2.000345	Q96HA1	P121A_HUMAN		11	3139	+		Lung NSC(55;0.163)	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	1	1	hg19	c.3139T>G		1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461648	0.26248	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09163	3.01;3.13;3.01;3.13;3.37	2.87	2.87	0.33458	2.87	2.87	0.33458	.	0.000000	0.40728	N	0.001028	T	0.24122	0.0584	M	0.77820	2.39	0.09310	N	1	D;D	0.61697	0.986;0.99	P;D	0.63192	0.797;0.912	T	0.08411	-1.0723	10	0.15952	T	0.53	.	8.67	0.34145	0.0:0.0:0.0:1.0	.	782;1047	A8MXF9;Q96HA1	.;P121A_HUMAN	V	782;782;782;782;1047	ENSP00000393020:F782V;ENSP00000257622:F782V;ENSP00000378687:F782V;ENSP00000351124:F782V;ENSP00000405562:F1047V	ENSP00000257622:F782V	F	+	1	0	0	POM121	72051607	72051607	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	5.284000	0.65627	1.316000	0.45131	0.145000	0.16022	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	1	0	1		2	2	2	0		0	0	93		93	100	1	2.060000	-20.000000	1	0.170000				63	60		396	368	0		1	0		0	0	93	0		1	8.034780e-01	0	1	0	20	0	63	396
NSUN5	55695	broad.mit.edu	37	7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0					ENST00000252594.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(298-300)gCg>gTg		NOP2/Sun domain family, member 5		G	VAL/ALA,,VAL/ALA,VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	44.0	39.0	41.0		299,,299,299	4.2	1.0	7	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	64,,64,64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	possibly-damaging,,possibly-damaging,possibly-damaging	100/471,,100/430,100/467	72721672	8,12998	2203	4300	6503	SO:0001583	missense	55695	27	121406	41				g.chr7:72721672G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.299C>T	chr7.hg19:g.72721672G>A	ENSP00000252594:p.Ala100Val	0					NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V	p.A100V			1	2	3	2.000345	Q96P11	NSUN5_HUMAN		3	314	-		Lung NSC(55;0.163)	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	1	1	hg19	c.299C>T	CCDS5547.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400031	0.83120	0.001589	1.16E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.15256	2.44;2.63;2.63	4.18	4.18	0.49190	4.18	4.18	0.49190	.	0.055915	0.64402	D	0.000001	T	0.27629	0.0679	M	0.66939	2.045	0.49798	D	0.999825	P;P;P	0.52463	0.953;0.945;0.949	B;B;P	0.48400	0.372;0.269;0.576	T	0.05683	-1.0870	9	.	.	.	.	15.7336	0.77825	0.0:0.0:1.0:0.0	.	100;100;100	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	V	100	ENSP00000252594:A100V;ENSP00000388464:A100V;ENSP00000309126:A100V	.	A	-	2	0	0	NSUN5	72359608	72359608	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	8.882000	0.92420	2.165000	0.68154	0.485000	0.47835	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-19.999990	1	0.170000	NM_148956			35	34		113	110	0		1	1		0	0	28	0		1	1	0	48	0	131	0	35	113
TRIM50	135892	broad.mit.edu	37	7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T	rs539646371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	155						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.002					ENST00000333149.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(463-465)Gcc>Acc		tripartite motif containing 50							398.0	335.0	356.0					7																	72734178		2203	4300	6503	SO:0001583	missense	135892	8	121412	42				g.chr7:72734178C>T	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.463G>A	chr7.hg19:g.72734178C>T	ENSP00000327994:p.Ala155Thr	0					TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T|TRIM50_ENST00000493498.1_5'Flank	p.A155T	NM_178125.2	NP_835226.2	1	2	3	2.000345	Q86XT4	TRI50_HUMAN		3	663	-			Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	1	1	hg19	c.463G>A	CCDS34654.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581845	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64260	-0.09;-0.09	4.14	2.14	0.27477	4.14	2.14	0.27477	.	0.437004	0.20192	N	0.097285	T	0.36248	0.0960	N	0.14661	0.345	0.20926	N	0.99982	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.002	T	0.05852	-1.0860	10	0.35671	T	0.21	.	2.8872	0.05664	0.0:0.4802:0.2583:0.2615	.	155;155	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	T	155	ENSP00000327994:A155T;ENSP00000413875:A155T	ENSP00000327994:A155T	A	-	1	0	0	TRIM50	72372114	72372114	0.814000	0.29104	0.973000	0.42090	0.966000	0.64601	1.180000	0.32005	2.042000	0.60477	0.485000	0.47835	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	0	0	1		16	2	2	1		1	1	239		239	235	1	2.060000	-20.000000	1	0.170000	NM_178125			153	147		899	872	1		1	0		1	0	239	0		1	1.046649e-01	0	0	0	4	0	153	899
TRIM50	135892	broad.mit.edu	37	7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	60						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333149.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(178-180)gTg>gCg		tripartite motif containing 50							47.0	47.0	47.0					7																	72738607		2202	4299	6501	SO:0001583	missense	135892	0	0					g.chr7:72738607A>G	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.179T>C	chr7.hg19:g.72738607A>G	ENSP00000327994:p.Val60Ala	0		OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	p.V60A	NM_178125.2	NP_835226.2	1	2	3	2.000345	Q86XT4	TRI50_HUMAN		2	379	-			Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	1	1	hg19	c.179T>C	CCDS34654.1	1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236062	0.22626	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84442	-1.85;-1.85	3.7	2.48	0.30137	3.7	2.48	0.30137	Zinc finger, RING/FYVE/PHD-type (1);	0.108239	0.39146	N	0.001441	T	0.78509	0.4294	L	0.53671	1.685	0.22001	N	0.999425	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.62388	-0.6865	10	0.23891	T	0.37	.	8.3006	0.32012	0.9005:0.0:0.0995:0.0	.	60;60	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	60	ENSP00000327994:V60A;ENSP00000413875:V60A	ENSP00000327994:V60A	V	-	2	0	0	TRIM50	72376543	72376543	0.016000	0.18221	0.823000	0.32752	0.789000	0.44602	2.697000	0.47060	0.585000	0.29608	0.397000	0.26171	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-2.734425	1	0.170000	NM_178125			78	75		335	326	1		1			0	0	64	0		1	0	0	0	0	0	0	78	335
FKBP6	8468	broad.mit.edu	37	7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D|FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	245					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522																																						ENST00000252037.4	1.000000	0.750000	1	9.100000e-01	0.990000	0.968494	0.990000	1.000000																										0				16						c.(733-735)gCt>gAt		FK506 binding protein 6, 36kDa							76.0	77.0	77.0					7																	72754785		1946	4147	6093	SO:0001583	missense	8468	0	0					g.chr7:72754785C>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.734C>A	chr7.hg19:g.72754785C>A	ENSP00000252037:p.Ala245Asp	0					RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D|FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D	p.A245D	NM_003602.3	NP_003593.3	1	2	3	2.000345	O75344	FKBP6_HUMAN		6	803	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	1	1	hg19	c.734C>A	CCDS43595.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204249	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.91	4.91	0.64330	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	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;0.987;0.996	D	0.92672	0.6151	10	0.87932	D	0	-9.8292	15.2625	0.73634	0.0:1.0:0.0:0.0	.	240;245;215	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	D	240;200;215;245	ENSP00000416277:A240D;ENSP00000402360:A200D;ENSP00000394952:A215D;ENSP00000252037:A245D	ENSP00000252037:A245D	A	+	2	0	0	FKBP6	72392721	72392721	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.971000	0.70440	2.284000	0.76573	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_003602			28	28		275	270	1		1			0	0	65	0		1	0	0	0	0	0	0	28	275
FZD9	8326	broad.mit.edu	37	7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	336					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1006-1008)Ctc>Ttc		frizzled class receptor 9							77.0	71.0	73.0					7																	72849343		2203	4300	6503	SO:0001583	missense	8326	0	0					g.chr7:72849343C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1006C>T	chr7.hg19:g.72849343C>T	ENSP00000345785:p.Leu336Phe	0						p.L336F	NM_003508.2	NP_003499.1	1	2	3	2.000345	O00144	FZD9_HUMAN		1	1235	+		Lung NSC(55;0.0659)|all_lung(88;0.152)		Missense_Mutation	SNP	ENST00000344575.3	1	1	hg19	c.1006C>T	CCDS5548.1	1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808435	0.70797	.	.	ENSG00000188763	ENST00000344575	T	0.48201	0.82	4.3	4.3	0.51218	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.59183	0.2175	L	0.48877	1.53	0.80722	D	1	D	0.54207	0.965	D	0.63381	0.914	T	0.57808	-0.7747	10	0.36615	T	0.2	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	336	O00144	FZD9_HUMAN	F	336	ENSP00000345785:L336F	ENSP00000345785:L336F	L	+	1	0	0	FZD9	72487279	72487279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.821000	0.55700	2.105000	0.64084	0.563000	0.77884	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000				84	83		388	379	1		1			0	0	60	0		1	0	0	0	0	0	0	84	388
FZD9	8326	broad.mit.edu	37	7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	388					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3	1.000000	0.770000	1	9.300000e-01	0.990000	0.973511	0.990000	1.000000																										0				14						c.(1162-1164)tgC>tgA		frizzled class receptor 9							47.0	44.0	45.0					7																	72849501		2203	4300	6503	SO:0001587	stop_gained	8326	0	0					g.chr7:72849501C>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1164C>A	chr7.hg19:g.72849501C>A	ENSP00000345785:p.Cys388*	0						p.C388*	NM_003508.2	NP_003499.1	1	2	3	2.000345	O00144	FZD9_HUMAN		1	1393	+		Lung NSC(55;0.0659)|all_lung(88;0.152)		Nonsense_Mutation	SNP	ENST00000344575.3	0	1	hg19	c.1164C>A	CCDS5548.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.774497	0.96922	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.46	2.59	0.31030	4.46	2.59	0.31030	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2442	0.37515	0.0:0.8161:0.0:0.1839	.	.	.	.	X	388	.	ENSP00000345785:C388X	C	+	3	2	2	FZD9	72487437	72487437	1.000000	0.71417	0.973000	0.42090	0.711000	0.40976	1.755000	0.38379	0.403000	0.25479	0.563000	0.77884	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000				31	32		301	298	0		1			0	0	64	0		1	0	0	0	0	0	0	31	301
TBL2	26608	broad.mit.edu	37	7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T	rs199565638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	193							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21452	0.0		0.0	False		,,,				2504	0.0					ENST00000305632.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(577-579)Gac>Aac		transducin (beta)-like 2							166.0	145.0	152.0					7																	72987671		2203	4300	6503	SO:0001583	missense	26608	0	0					g.chr7:72987671C>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.577G>A	chr7.hg19:g.72987671C>T	ENSP00000307260:p.Asp193Asn	0					TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N|TBL2_ENST00000459913.1_5'UTR	p.D193N	NM_012453.2	NP_036585.1	1	2	3	2.000345	Q9Y4P3	TBL2_HUMAN		4	818	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	1	1	hg19	c.577G>A	CCDS5551.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.618	0.114819	0.08831	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.61040	0.14;0.14;0.14	5.48	4.35	0.52113	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.082171	0.85682	N	0.000000	T	0.21590	0.0520	N	0.01086	-1.025	0.30548	N	0.765783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28490	-1.0042	10	0.02654	T	1	-24.6045	8.879	0.35363	0.0:0.0913:0.0:0.9087	.	157;193	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	193;193;157;193	ENSP00000307260:D193N;ENSP00000413979:D157N;ENSP00000407371:D193N	ENSP00000307260:D193N	D	-	1	0	0	TBL2	72625607	72625607	1.000000	0.71417	0.983000	0.44433	0.422000	0.31414	6.240000	0.72363	0.930000	0.37217	-0.367000	0.07326	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-2.969682	1	0.170000	NM_012453			94	93		494	483	1		1	1		0	0	88	0		1	1	0	79	0	159	0	94	494
MLXIPL	51085	broad.mit.edu	37	7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	679	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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 cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627																																						ENST00000313375.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(2035-2037)Ctc>Ttc		MLX interacting protein-like							48.0	47.0	47.0					7																	73010506		2203	4300	6503	SO:0001583	missense	51085	0	0					g.chr7:73010506G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2035C>T	chr7.hg19:g.73010506G>A	ENSP00000320886:p.Leu679Phe	0					MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	p.L679F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	1	2	3	2.000345	Q9NP71	MLXPL_HUMAN		13	2082	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	1	1	hg19	c.2035C>T	CCDS5553.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107634	0.77096	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98617	-4.75;-5.03;-4.75;-5.03;-4.75;-4.75	5.38	4.5	0.54988	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.98795	0.9594	M	0.78344	2.41	0.44677	D	0.997665	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.975;0.987	D	0.98052	1.0388	10	0.36615	T	0.2	-34.5749	11.168	0.48554	0.0894:0.0:0.9106:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	F	677;679;679;677;586;585	ENSP00000412330:L677F;ENSP00000406296:L679F;ENSP00000320886:L679F;ENSP00000346629:L677F;ENSP00000378616:L586F;ENSP00000392636:L585F	ENSP00000320886:L679F	L	-	1	0	0	MLXIPL	72648442	72648442	1.000000	0.71417	0.856000	0.33681	0.977000	0.68977	6.734000	0.74801	2.530000	0.85305	0.558000	0.71614	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	1		2	2	2	0		0	0	62		62	60	1	2.060000	-20.000000	1	0.170000	NM_032951			65	65		253	249	1		1	1		0	0	62	0		1	9.333490e-01	0	9	0	11	0	65	253
MLXIPL	51085	broad.mit.edu	37	7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T	rs375307110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	367					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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 cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652																																						ENST00000313375.3	1.000000	0.540000	1	7.000000e-01	0.900000	0.869719	0.900000	1.000000																										0				13						c.(1099-1101)Gac>Aac		MLX interacting protein-like		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,3258		0,0,1629	20.0	24.0	22.0		1099,1099,1099,1099	4.3	1.0	7		22	1,6775		0,1,3387	no	missense,missense,missense,missense	MLXIPL	NM_032951.2,NM_032952.2,NM_032953.2,NM_032954.2	23,23,23,23	0,1,5016	TT,TC,CC		0.0148,0.0,0.01	probably-damaging,probably-damaging,probably-damaging,probably-damaging	367/853,367/834,367/851,367/832	73012016	1,10033	1629	3388	5017	SO:0001583	missense	51085	1	111242	27				g.chr7:73012016C>T	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1099G>A	chr7.hg19:g.73012016C>T	ENSP00000320886:p.Asp367Asn	0					MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	1	2	3	2.000345	Q9NP71	MLXPL_HUMAN		9	1146	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	1	1	hg19	c.1099G>A	CCDS5553.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851344	0.71719	0.0	1.48E-4	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24151	2.46;2.47;2.46;2.47;1.87;1.88	4.31	4.31	0.51392	4.31	4.31	0.51392	.	1.866310	0.02698	N	0.111450	T	0.48223	0.1488	L	0.51422	1.61	0.19300	N	0.999974	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998;0.998	D;D;P;D;D;D	0.73708	0.981;0.917;0.829;0.917;0.917;0.917	T	0.21999	-1.0229	10	0.56958	D	0.05	-11.6524	9.7151	0.40270	0.2075:0.7925:0.0:0.0	.	274;274;367;367;367;367	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	N	367;367;367;367;274;274;200	ENSP00000412330:D367N;ENSP00000406296:D367N;ENSP00000320886:D367N;ENSP00000346629:D367N;ENSP00000378616:D274N;ENSP00000392636:D274N	ENSP00000320886:D367N	D	-	1	0	0	MLXIPL	72649952	72649952	0.996000	0.38824	0.998000	0.56505	0.942000	0.58702	1.454000	0.35178	1.945000	0.56424	0.423000	0.28283	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-19.915320	1	0.170000	NM_032951			16	16		198	189	0		1	0		0	0	37	0		9.999204e-01	3.026513e-01	0	1	0	13	0	16	198
VPS37D	155382	broad.mit.edu	37	7	73085532	73085532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	ENST00000324941.4	+	4	716	c.582G>A	c.(580-582)ccG>ccA	p.P194P	VPS37D_ENST00000451519.1_Silent_p.P109P	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATCCTTCCCGGCTGCAGCTG	0.736																																						ENST00000324941.4	1.000000	0.290000	1	4.900000e-01	0.770000	0.752361	0.770000	1.000000																										0				2						c.(580-582)ccG>ccA		vacuolar protein sorting 37 homolog D (S. cerevisiae)							6.0	6.0	6.0					7																	73085532		1531	3458	4989	SO:0001819	synonymous_variant	155382	1	116302	22				g.chr7:73085532G>A	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.582G>A	chr7.hg19:g.73085532G>A		0					VPS37D_ENST00000451519.1_Silent_p.P109P	p.P194P	NM_001077621.1	NP_001071089.1	1	2	3	2.000345				4	716	+		Lung NSC(55;0.0908)|all_lung(88;0.198)		Silent	SNP	ENST00000324941.4	0	1	hg19	c.582G>A	CCDS43596.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-9.299588	1	0.170000	NM_152560			5	5		78	76	0		1	0		0	0	16	0		9.355241e-01	1.581979e-02	0	0	0	3	0	5	78
ABHD11	83451	broad.mit.edu	37	7	73151260	73151260	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.814C>A	c.(814-816)Cat>Aat	p.H272N	ABHD11_ENST00000395147.4_Splice_Site_p.H215N|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Splice_Site_p.H265N	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	272						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612																																						ENST00000222800.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(814-816)Cat>Aat		abhydrolase domain containing 11							121.0	120.0	121.0					7																	73151260		2203	4300	6503	SO:0001630	splice_region_variant	83451	0	0					g.chr7:73151260G>T	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.815+1C>A	chr7.hg19:g.73151260G>T		0					LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Splice_Site_p.H265N|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Splice_Site_p.H215N	p.H272N	NM_148912.2	NP_683710.1	1	2	3	2.000345	Q8NFV4	ABHDB_HUMAN		5	883	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Splice_Site	SNP	ENST00000222800.3	1	0	hg19	c.814C>A	CCDS5558.1	1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547811	0.13312	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66995	-0.24;-0.24;-0.24	4.38	2.47	0.30058	4.38	2.47	0.30058	Alpha/beta hydrolase fold-1 (1);	0.522037	0.21087	N	0.080383	T	0.34658	0.0905	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.16719	-1.0393	10	0.17832	T	0.49	1.1316	6.0827	0.19950	0.1074:0.1897:0.7029:0.0	.	265;272	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	N	265;272;215	ENSP00000416970:H265N;ENSP00000222800:H272N;ENSP00000378579:H215N	ENSP00000222800:H272N	H	-	1	0	0	ABHD11	72789196	72789196	0.161000	0.22892	0.479000	0.27329	0.245000	0.25701	2.379000	0.44318	0.823000	0.34589	0.561000	0.74099	CAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1	1	0	1		2	2	2	0		0	0	177		177	174	1	2.060000	-20.000000	1	0.170000		Missense_Mutation		140	139		584	571	1		1	1		0	0	177	0		1	1	0	45	0	148	0	140	584
CLDN3	1365	broad.mit.edu	37	7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	188					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716																																						ENST00000395145.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.989206	0.990000	1.000000																										0				2						c.(562-564)Gag>Aag		claudin 3							26.0	25.0	25.0					7																	73183818		2199	4295	6494	SO:0001583	missense	1365	0	0					g.chr7:73183818C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.562G>A	chr7.hg19:g.73183818C>T	ENSP00000378577:p.Glu188Lys	0						p.E188K	NM_001306.3	NP_001297.1	1	2	3	2.000345	O15551	CLD3_HUMAN		1	782	-		Lung NSC(55;0.159)		Missense_Mutation	SNP	ENST00000395145.2	1	1	hg19	c.562G>A	CCDS5559.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076025	0.55646	.	.	ENSG00000165215	ENST00000395145	D	0.84660	-1.88	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.481200	0.21587	N	0.072148	T	0.80259	0.4590	L	0.50333	1.59	0.47547	D	0.999459	B	0.12630	0.006	B	0.06405	0.002	T	0.74604	-0.3610	10	0.13470	T	0.59	.	14.9175	0.70810	0.0:1.0:0.0:0.0	.	188	O15551	CLD3_HUMAN	K	188	ENSP00000378577:E188K	ENSP00000378577:E188K	E	-	1	0	0	CLDN3	72821754	72821754	0.050000	0.20438	0.998000	0.56505	0.654000	0.38779	1.689000	0.37700	2.084000	0.62774	0.561000	0.74099	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001306			28	27		241	234	0		1	0		0	0	32	0		1	4.474260e-01	0	0	0	14	0	28	241
CLDN3	1365	broad.mit.edu	37	7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	80					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GATGAGGGCGCGGGCCGCCTG	0.677																																						ENST00000395145.2	1.000000	0.510000	1	6.800000e-01	0.900000	0.862373	0.900000	1.000000																										0				2						c.(238-240)cGc>cAc		claudin 3							43.0	36.0	39.0					7																	73184141		2203	4300	6503	SO:0001583	missense	1365	0	0					g.chr7:73184141C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.239G>A	chr7.hg19:g.73184141C>T	ENSP00000378577:p.Arg80His	0						p.R80H	NM_001306.3	NP_001297.1	1	2	3	2.000345	O15551	CLD3_HUMAN		1	459	-		Lung NSC(55;0.159)		Missense_Mutation	SNP	ENST00000395145.2	0	1	hg19	c.239G>A	CCDS5559.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.245394	0.95272	.	.	ENSG00000165215	ENST00000395145	D	0.89875	-2.58	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	H	0.98951	4.38	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	15.4509	0.75271	0.0:1.0:0.0:0.0	.	80	O15551	CLD3_HUMAN	H	80	ENSP00000378577:R80H	ENSP00000378577:R80H	R	-	2	0	0	CLDN3	72822077	72822077	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.773000	0.85462	2.223000	0.72356	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-18.771270	1	0.170000	NM_001306			14	14		175	171	0		1	1		0	0	25	0		9.997559e-01	6.555422e-01	0	5	0	24	0	14	175
CLDN3	1365	broad.mit.edu	37	7	73184317	73184317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	ENST00000395145.2	-	1	283	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	21					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGCACACGATGGTGCCCA	0.682																																						ENST00000395145.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				2						c.(61-63)atC>atT		claudin 3							40.0	33.0	35.0					7																	73184317		2203	4299	6502	SO:0001819	synonymous_variant	1365	0	0					g.chr7:73184317G>A	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.63C>T	chr7.hg19:g.73184317G>A		0						p.I21I	NM_001306.3	NP_001297.1	1	2	3	2.000345	O15551	CLD3_HUMAN		1	283	-		Lung NSC(55;0.159)		Silent	SNP	ENST00000395145.2	0	1	hg19	c.63C>T	CCDS5559.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_001306			23	23		104	102	0		1	1		0	0	28	0		9.999997e-01	8.353621e-01	0	4	0	13	0	23	104
ELN	2006	broad.mit.edu	37	7	73470641	73470641	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000445912.1_Silent_p.Y397Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	397	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TTCCTACTTACGGGGTTGGAG	0.632			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q11.23	7q11.23	2006	T	elastin	yes	yes	Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome	L	L	PAX5		B-ALL		0				32						c.(1189-1191)taC>taT		elastin							100.0	107.0	104.0					7																	73470641		2203	4300	6503	SO:0001819	synonymous_variant	2006	1	121368	36				g.chr7:73470641C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1191C>T	chr7.hg19:g.73470641C>T		0					ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000358929.4_Silent_p.Y397Y	p.Y397Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	1	2	3	2.000345	P15502	ELN_HUMAN		20	1590	+		Lung NSC(55;0.159)	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	1	1	hg19	c.1191C>T	CCDS5562.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-3.100860	1	0.170000	NM_000501			143	139		636	624	0		1	0		0	0	158	0		1	1	0	0	0	570	0	143	636
LIMK1	3984	broad.mit.edu	37	7	73523282	73523282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000336180.2	+	10	1251	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000418310.1_Silent_p.I430I	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCAAGTTCATCGGGGTGCTCT	0.597																																						ENST00000336180.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				21						c.(1198-1200)atC>atT		LIM domain kinase 1	Dabrafenib(DB08912)						123.0	96.0	105.0					7																	73523282		2203	4300	6503	SO:0001819	synonymous_variant	3984	3	121412	36				g.chr7:73523282C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1200C>T	chr7.hg19:g.73523282C>T		0					LIMK1_ENST00000418310.1_Silent_p.I430I|LIMK1_ENST00000538333.3_Silent_p.I366I	p.I400I	NM_002314.3	NP_002305.1	1	2	3	2.000345	P53667	LIMK1_HUMAN		10	1251	+		Lung NSC(55;0.137)	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	1	1	hg19	c.1200C>T	CCDS5563.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.981634	1	0.170000	NM_002314			43	43		233	228	1		1	1		0	0	67	0		1	1	0	26	0	129	0	43	233
EIF4H	7458	broad.mit.edu	37	7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	247					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607																																						ENST00000265753.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				4						c.(739-741)Caa>Taa		eukaryotic translation initiation factor 4H							37.0	34.0	35.0					7																	73609630		2203	4300	6503	SO:0001587	stop_gained	7458	0	0					g.chr7:73609630C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.739C>T	chr7.hg19:g.73609630C>T	ENSP00000265753:p.Gln247*	0					EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	p.Q247*	NM_022170.1	NP_071496.1	1	2	3	2.000345	Q15056	IF4H_HUMAN		7	878	+			A8K3R1|D3DXF6|D3DXF8	Nonsense_Mutation	SNP	ENST00000265753.8	0	1	hg19	c.739C>T	CCDS5564.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516283	0.85495	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.249975	0.33199	N	0.005166	.	.	.	.	.	.	0.31653	N	0.646531	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.0173	11.1794	0.48618	0.1841:0.8159:0.0:0.0	.	.	.	.	X	247;227	.	ENSP00000265753:Q247X	Q	+	1	0	0	EIF4H	73247566	73247566	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.312000	0.51927	2.321000	0.78463	0.563000	0.77884	CAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_022170			37	36		205	199	0		1	1		0	0	50	0		1	1	0	70	0	799	0	37	205
RFC2	5982	broad.mit.edu	37	7	73664070	73664070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	75					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGTACTCACCGCAATGATGAT	0.502																																						ENST00000055077.3	1.000000	0.340000	7.100000e-01	4.300000e-01	0.550000	0.583329	0.550000	0.540000																										0				8						c.(223-225)gCg>gTg		replication factor C (activator 1) 2, 40kDa							185.0	150.0	162.0					7																	73664070		2203	4300	6503	SO:0001630	splice_region_variant	5982	0	0					g.chr7:73664070G>A		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.225+1C>T	chr7.hg19:g.73664070G>A		0					RFC2_ENST00000352131.3_Splice_Site_p.A75V	p.A75V	NM_181471.1	NP_852136.1	1	2	3	2.000345	P35250	RFC2_HUMAN		3	284	-			B5BU07|D3DXG3|P32846|Q9BU93	Splice_Site	SNP	ENST00000055077.3	1	0	hg19	c.224C>T	CCDS5568.1	0	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411092	0.83340	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;D	0.92495	1.07;-3.05	4.63	4.63	0.57726	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048801	0.85682	D	0.000000	D	0.85729	0.5764	N	0.04686	-0.185	0.80722	D	1	P;P;P	0.47191	0.593;0.646;0.891	B;P;P	0.45971	0.366;0.499;0.499	D	0.87888	0.2682	10	0.44086	T	0.13	.	16.4223	0.83771	0.0:0.0:1.0:0.0	.	75;75;75	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	V	75	ENSP00000275627:A75V;ENSP00000055077:A75V	ENSP00000055077:A75V	A	-	2	0	0	RFC2	73302006	73302006	1.000000	0.71417	0.921000	0.36526	0.423000	0.31445	9.318000	0.96334	2.309000	0.77851	0.442000	0.29010	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.089281	1	0.170000	NM_181471	Missense_Mutation		20	20		418	403	0		1	1		0	0	82	0		9.999936e-01	6.695884e-01	0	4	0	45	0	20	418
CLIP2	7461	broad.mit.edu	37	7	73753262	73753262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000395060.1	+	2	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000223398.6_Silent_p.S202S|CLIP2_ENST00000361545.5_Silent_p.S202S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	202						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667																																						ENST00000395060.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(604-606)tcG>tcA		CAP-GLY domain containing linker protein 2							34.0	34.0	34.0					7																	73753262		2093	4130	6223	SO:0001819	synonymous_variant	7461	8	119714	39				g.chr7:73753262G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.606G>A	chr7.hg19:g.73753262G>A		0					CLIP2_ENST00000361545.5_Silent_p.S202S|CLIP2_ENST00000223398.6_Silent_p.S202S	p.S202S			1	2	3	2.000345	Q9UDT6	CLIP2_HUMAN		2	606	+			O14527|O43611	Silent	SNP	ENST00000395060.1	1	1	hg19	c.606G>A	CCDS5569.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.721432	1	0.170000	NM_003388			66	66		358	358	1		1	1		0	0	70	0		1	9.999737e-01	0	28	0	57	0	66	358
CLIP2	7461	broad.mit.edu	37	7	73768230	73768230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768230C>T	ENST00000395060.1	+	3	699	c.699C>T	c.(697-699)ggC>ggT	p.G233G	CLIP2_ENST00000223398.6_Silent_p.G233G|CLIP2_ENST00000361545.5_Silent_p.G233G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	233						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGACTGGCGTGGTGCGGT	0.647																																						ENST00000395060.1	1.000000	0.200000	4.400000e-01	2.600000e-01	0.330000	0.379994	0.330000	0.330000																										0				30						c.(697-699)ggC>ggT		CAP-GLY domain containing linker protein 2							128.0	108.0	115.0					7																	73768230		2203	4300	6503	SO:0001819	synonymous_variant	7461	0	0					g.chr7:73768230C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.699C>T	chr7.hg19:g.73768230C>T		0					CLIP2_ENST00000361545.5_Silent_p.G233G|CLIP2_ENST00000223398.6_Silent_p.G233G	p.G233G			1	2	3	2.000345	Q9UDT6	CLIP2_HUMAN		3	699	+			O14527|O43611	Silent	SNP	ENST00000395060.1	0	1	hg19	c.699C>T	CCDS5569.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	0	0	0		2	2	2	0		0	0	132		132	131	1	2.060000	-2.817158	1	0.170000	NM_003388			20	20		697	677	0		1	1		0	0	132	0		9.999935e-01	9.198867e-01	0	7	0	145	0	20	697
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000395060.1	+	3	794	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V|CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652																																						ENST00000395060.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(793-795)gCg>gTg		CAP-GLY domain containing linker protein 2							85.0	87.0	86.0					7																	73768325		2203	4300	6503	SO:0001583	missense	7461	0	0					g.chr7:73768325C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.794C>T	chr7.hg19:g.73768325C>T	ENSP00000378500:p.Ala265Val	0					CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V|CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V	p.A265V			1	2	3	2.000345	Q9UDT6	CLIP2_HUMAN		3	794	+			O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	1	1	hg19	c.794C>T	CCDS5569.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130631	0.77549	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.75050	-0.9;-0.9;-0.9	5.5	5.5	0.81552	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.89636	0.3859	10	0.62326	D	0.03	-40.9586	18.1332	0.89608	0.0:1.0:0.0:0.0	.	265;265	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	265	ENSP00000223398:A265V;ENSP00000355151:A265V;ENSP00000378500:A265V	ENSP00000223398:A265V	A	+	2	0	0	CLIP2	73406261	73406261	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	7.452000	0.80683	2.861000	0.98227	0.655000	0.94253	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	0		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_003388			143	134		637	612	1		1	1		0	0	144	0		1	9.999999e-01	0	16	0	87	0	143	637
CLIP2	7461	broad.mit.edu	37	7	73790432	73790432	+	Silent	SNP	C	C	T	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000395060.1	+	9	1701	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_ENST00000223398.6_Silent_p.Y567Y|CLIP2_ENST00000361545.5_Silent_p.Y532Y			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	567						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657																																						ENST00000395060.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				30						c.(1699-1701)taC>taT		CAP-GLY domain containing linker protein 2		C	,	0,4406		0,0,2203	29.0	32.0	31.0		1701,1596	2.2	1.0	7	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	567/1047,532/1012	73790432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7461	1	121378	27				g.chr7:73790432C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1701C>T	chr7.hg19:g.73790432C>T		0					CLIP2_ENST00000361545.5_Silent_p.Y532Y|CLIP2_ENST00000223398.6_Silent_p.Y567Y	p.Y567Y			1	2	3	2.000345	Q9UDT6	CLIP2_HUMAN		9	1701	+			O14527|O43611	Silent	SNP	ENST00000395060.1	1	1	hg19	c.1701C>T	CCDS5569.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_003388			36	36		173	173	1		1	1		0	0	31	0		1	9.999977e-01	0	28	0	73	0	36	173
GTF2IRD1	9569	broad.mit.edu	37	7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000265755.3	+	2	466	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	25					multicellular organismal development (GO:0007275)|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)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647																																						ENST00000265755.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(73-75)Acc>Gcc		GTF2I repeat domain containing 1							118.0	88.0	98.0					7																	73922483		2203	4300	6503	SO:0001583	missense	9569	0	0					g.chr7:73922483A>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.73A>G	chr7.hg19:g.73922483A>G	ENSP00000265755:p.Thr25Ala	0					GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR	p.T25A	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	1	2	3	2.000345	Q9UHL9	GT2D1_HUMAN		2	466	+			O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	1	1	hg19	c.73A>G	CCDS5571.1	1	.	.	.	.	.	.	.	.	.	.	A	6.080	0.383092	0.11524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.66;1.65;1.66;1.65	4.57	-9.15	0.00698	4.57	-9.15	0.00698	.	0.620792	0.14960	N	0.288424	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	0.99999	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	0.13656	-1.0501	10	0.23891	T	0.37	-5.8659	2.0117	0.03489	0.5072:0.14:0.1851:0.1676	.	25;25;25;25	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	25	ENSP00000265755:T25A;ENSP00000397566:T25A;ENSP00000408477:T25A;ENSP00000418383:T25A	ENSP00000265755:T25A	T	+	1	0	0	GTF2IRD1	73560419	73560419	0.024000	0.19004	0.049000	0.19019	0.725000	0.41563	-0.315000	0.08081	-1.829000	0.01201	-0.441000	0.05720	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_016328			49	47		233	229	1		1	1		0	0	53	0		1	9.981324e-01	0	18	0	30	0	49	233
GTF2I	2969	broad.mit.edu	37	7	74114695	74114695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	164					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478																																						ENST00000324896.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(490-492)aaC>aaT		general transcription factor IIi							118.0	119.0	119.0					7																	74114695		2203	4300	6503	SO:0001819	synonymous_variant	2969	0	0					g.chr7:74114695C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.492C>T	chr7.hg19:g.74114695C>T		0					GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N	p.N164N	NM_032999.2	NP_127492.1	1	2	3	2.000345	P78347	GTF2I_HUMAN		5	881	+			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	ENST00000324896.4	1	1	hg19	c.492C>T	CCDS5573.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	0	0	0		2	2	2	0		0	0	179		179	178	1	2.060000	-20.000000	1	0.170000	NM_032999			156	154		612	601	0		1	1		0	0	179	0		1	1	0	9	0	222	0	156	612
POM121C	100101267	broad.mit.edu	37	7	75051253	75051253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75051253G>A	ENST00000257665.5	-	11	3007	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	POM121C_ENST00000453279.2_Missense_Mutation_p.T761M|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1003	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGATGGGCGTAGGCACGTG	0.637																																						ENST00000257665.5	1.000000	0.180000	5.100000e-01	2.600000e-01	0.360000	0.407166	0.360000	0.340000																										0				14						c.(3007-3009)aCg>aTg		POM121 transmembrane nucleoporin C							34.0	36.0	35.0					7																	75051253		2203	4300	6503	SO:0001583	missense	100101267	6	121404	37				g.chr7:75051253G>A		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	ENST00000257665.5:c.3008C>T	chr7.hg19:g.75051253G>A	ENSP00000257665:p.Thr1003Met	0					POM121C_ENST00000453279.2_Missense_Mutation_p.T761M|POM121C_ENST00000473168.1_5'Flank	p.T1003M			1	2	3	2.000345	A8CG34	P121C_HUMAN		11	3007	-			O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	0	1	hg19	c.3008C>T		0	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999216	0.35226	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.19669	3.61;2.13	0.351	0.351	0.16042	0.351	0.351	0.16042	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.31283	N	0.690388	D	0.69078	0.997	P	0.45071	0.468	T	0.22591	-1.0212	8	0.62326	D	0.03	.	.	.	.	.	1003	A8CG34	P121C_HUMAN	M	1003;761	ENSP00000257665:T1003M;ENSP00000414208:T761M	ENSP00000257665:T1003M	T	-	2	0	0	POM121C	74889189	74889189	0.201000	0.23410	0.009000	0.14445	0.003000	0.03518	0.672000	0.25187	0.399000	0.25367	0.404000	0.27445	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	0	0	1		21	6	2	1		1	1	48		48	49	1	2.060000	-10.139620	1	0.170000	NM_001099415			10	11		333	332	0		0	0		1	0	48	0		3.163847e-02	1.186231e-02	0	3	0	50	0	10	333
HIP1	3092	broad.mit.edu	37	7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000336926.6	-	22	2193	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	723					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)			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						TTACAGGCCTCGGTCAGTGCT	0.562			T	PDGFRB	CMML																																	ENST00000336926.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q11.23	7q11.23	3092	T	huntingtin interacting protein 1				L	L	PDGFRB		CMML		0				51						c.(2167-2169)Gag>Aag		huntingtin interacting protein 1							68.0	57.0	60.0					7																	75182880		2203	4300	6503	SO:0001583	missense	3092	3	121412	36				g.chr7:75182880C>T	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.2167G>A	chr7.hg19:g.75182880C>T	ENSP00000336747:p.Glu723Lys	0					HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	p.E723K	NM_005338.5	NP_005329.3	1	2	3	2.000345	O00291	HIP1_HUMAN		22	2193	-			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	1	1	hg19	c.2167G>A	CCDS34669.1	1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392104	0.42410	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.72;2.49	5.17	4.3	0.51218	5.17	4.3	0.51218	.	0.349867	0.36374	N	0.002631	T	0.13243	0.0321	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.004	B;B	0.09377	0.004;0.004	T	0.05053	-1.0909	10	0.30078	T	0.28	-15.5609	10.8155	0.46573	0.0:0.9123:0.0:0.0877	.	723;723	E7ES17;O00291	.;HIP1_HUMAN	K	723	ENSP00000336747:E723K;ENSP00000410300:E723K	ENSP00000336747:E723K	E	-	1	0	0	HIP1	75020816	75020816	0.999000	0.42202	0.873000	0.34254	0.553000	0.35397	5.389000	0.66255	1.419000	0.47118	0.650000	0.86243	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1		2	2	2	0		0	0	57		57	54	1	2.060000	-3.329692	1	0.170000	NM_005338			48	45		219	209	0		1	1		0	0	57	0		1	9.999953e-01	0	7	0	80	0	48	219
HIP1	3092	broad.mit.edu	37	7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000336926.6	-	19	1858	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	611					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)			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						CTGGCACATAGATTCCTAAAA	0.517			T	PDGFRB	CMML																																	ENST00000336926.6	1.000000	0.490000	1	6.400000e-01	0.840000	0.827052	0.840000	1.000000				Dom	yes			Dom	yes		7	7q11.23	7q11.23	3092	T	huntingtin interacting protein 1				L	L	PDGFRB		CMML		0				51						c.(1831-1833)tCt>tAt		huntingtin interacting protein 1							56.0	51.0	53.0					7																	75184851		2203	4300	6503	SO:0001583	missense	3092	0	0					g.chr7:75184851G>T	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.1832C>A	chr7.hg19:g.75184851G>T	ENSP00000336747:p.Ser611Tyr	0					HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	p.S611Y	NM_005338.5	NP_005329.3	1	2	3	2.000345	O00291	HIP1_HUMAN		19	1858	-			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	0	1	hg19	c.1832C>A	CCDS34669.1	0	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221613	0.39300	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.64;2.42	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.416790	0.23325	N	0.049414	T	0.12220	0.0297	N	0.08118	0	0.18873	N	0.999987	P;P	0.50710	0.74;0.938	B;P	0.46758	0.212;0.526	T	0.13282	-1.0515	10	0.62326	D	0.03	-6.2134	10.9381	0.47257	0.0855:0.0:0.9145:0.0	.	611;611	E7ES17;O00291	.;HIP1_HUMAN	Y	611	ENSP00000336747:S611Y;ENSP00000410300:S611Y	ENSP00000336747:S611Y	S	-	2	0	0	HIP1	75022787	75022787	0.840000	0.29493	0.421000	0.26609	0.059000	0.15707	3.945000	0.56637	2.721000	0.93114	0.655000	0.94253	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.155520	1	0.170000	NM_005338			15	15		202	196	0		1	1		0	0	24	0		9.998630e-01	9.801007e-01	0	4	0	86	0	15	202
HIP1	3092	broad.mit.edu	37	7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000336926.6	-	15	1432	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	469	pDED.				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)			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						CTTTAGCTTGCTATATCGCTG	0.542			T	PDGFRB	CMML																																	ENST00000336926.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q11.23	7q11.23	3092	T	huntingtin interacting protein 1				L	L	PDGFRB		CMML		0				51						c.(1405-1407)aGc>aTc		huntingtin interacting protein 1							233.0	185.0	201.0					7																	75187529		2203	4300	6503	SO:0001583	missense	3092	0	0					g.chr7:75187529C>A	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.1406G>T	chr7.hg19:g.75187529C>A	ENSP00000336747:p.Ser469Ile	0					HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	p.S469I	NM_005338.5	NP_005329.3	1	2	3	2.000345	O00291	HIP1_HUMAN		15	1432	-			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	1	1	hg19	c.1406G>T	CCDS34669.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626792	0.46840	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.7;2.49	5.18	4.24	0.50183	5.18	4.24	0.50183	.	0.192946	0.56097	D	0.000033	T	0.13500	0.0327	L	0.54323	1.7	0.40654	D	0.982062	P;P	0.45531	0.86;0.767	B;B	0.36845	0.234;0.168	T	0.04855	-1.0922	10	0.52906	T	0.07	-21.3599	13.0976	0.59202	0.0:0.7076:0.2924:0.0	.	469;469	E7ES17;O00291	.;HIP1_HUMAN	I	469	ENSP00000336747:S469I;ENSP00000410300:S469I	ENSP00000336747:S469I	S	-	2	0	0	HIP1	75025465	75025465	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.944000	0.40263	2.417000	0.82017	0.591000	0.81541	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_005338			73	71		356	347	1		1	1		0	0	76	0		1	9.999882e-01	0	9	0	73	0	73	356
HIP1	3092	broad.mit.edu	37	7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A	rs369879797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000336926.6	-	4	379	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	118	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)			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						CAATTCATTTCTGTATCTCAG	0.502			T	PDGFRB	CMML																																	ENST00000336926.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q11.23	7q11.23	3092	T	huntingtin interacting protein 1				L	L	PDGFRB		CMML		0				51						c.(352-354)aGa>aTa		huntingtin interacting protein 1							164.0	144.0	151.0					7																	75221405		2203	4300	6503	SO:0001583	missense	3092	0	0					g.chr7:75221405C>A	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.353G>T	chr7.hg19:g.75221405C>A	ENSP00000336747:p.Arg118Ile	0					HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	p.R118I	NM_005338.5	NP_005329.3	1	2	3	2.000345	O00291	HIP1_HUMAN		4	379	-			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	1	1	hg19	c.353G>T	CCDS34669.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576197	0.86645	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32988	1.43;1.43;1.43	6.01	4.89	0.63831	6.01	4.89	0.63831	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.040310	0.85682	D	0.000000	T	0.25044	0.0608	L	0.39898	1.24	0.54753	D	0.999987	B	0.16166	0.016	B	0.25759	0.063	T	0.05435	-1.0885	10	0.25751	T	0.34	-20.8002	9.3504	0.38133	0.0:0.0869:0.0:0.9131	.	118	O00291	HIP1_HUMAN	I	118;118;89	ENSP00000336747:R118I;ENSP00000410300:R118I;ENSP00000414280:R89I	ENSP00000336747:R118I	R	-	2	0	0	HIP1	75059341	75059341	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	4.605000	0.61119	1.140000	0.42260	0.650000	0.86243	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1		2	2	2	0		0	0	117		117	114	1	2.060000	-20.000000	1	0.170000	NM_005338			90	89		419	412	1		1	1		0	0	117	0		1	9.998079e-01	0	8	0	52	0	90	419
CCL24	6369	broad.mit.edu	37	7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	107					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627																																						ENST00000416943.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999329	0.990000	1.000000																										0				3						c.(319-321)gGc>gAc		chemokine (C-C motif) ligand 24							79.0	69.0	73.0					7																	75441154		2203	4300	6503	SO:0001583	missense	6369	0	0					g.chr7:75441154C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.320G>A	chr7.hg19:g.75441154C>T	ENSP00000400533:p.Gly107Asp	0					CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	p.G107D	NM_002991.2	NP_002982.2	1	2	3	2.000345	O00175	CCL24_HUMAN		4	413	-			B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	1	1	hg19	c.320G>A	CCDS34670.1	1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748531	0.15710	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03889	3.77;3.77	3.62	-4.49	0.03504	3.62	-4.49	0.03504	Chemokine interleukin-8-like domain (1);	2.562570	0.01641	N	0.024070	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.20384	0.029	T	0.36841	-0.9731	10	0.42905	T	0.14	.	5.6435	0.17577	0.3951:0.1633:0.4416:0.0	.	107	O00175	CCL24_HUMAN	D	107	ENSP00000222902:G107D;ENSP00000400533:G107D	ENSP00000222902:G107D	G	-	2	0	0	CCL24	75279090	75279090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.177000	0.09796	-0.929000	0.03757	-0.425000	0.05940	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-20.000000	1	0.170000	NM_002991			34	34		238	236	1		1	1		0	0	37	0		1	9.385089e-01	0	9	0	26	0	34	238
RHBDD2	57414	broad.mit.edu	37	7	75511175	75511175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000006777.6	+	2	342	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	69						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577																																						ENST00000006777.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(205-207)gtC>gtT		rhomboid domain containing 2							88.0	95.0	93.0					7																	75511175		2009	4173	6182	SO:0001819	synonymous_variant	57414	0	0					g.chr7:75511175C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.207C>T	chr7.hg19:g.75511175C>T		0					RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR	p.V69V	NM_001040456.1	NP_001035546.1	1	2	3	2.000345	Q6NTF9	RHBD2_HUMAN		2	342	+			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	1	1	hg19	c.207C>T	CCDS43602.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	1	0	1		2	2	2	0		0	0	141		141	141	1	2.060000	-20.000000	1	0.170000	NM_020684			143	141		625	608	1		1	1		0	0	141	0		1	1	0	73	0	261	0	143	625
POR	5447	broad.mit.edu	37	7	75609862	75609862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609862G>A	ENST00000450476.1	+	1	45	c.35G>A	c.(34-36)gGa>gAa	p.G12E	POR_ENST00000461988.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000439269.1_5'Flank|POR_ENST00000419840.1_Intron|POR_ENST00000545601.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CCTCCCTGGGGACTCCAGATC	0.637																																						ENST00000450476.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(34-36)gGa>gAa		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)																																			SO:0001583	missense	5447	0	0					g.chr7:75609862G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.35G>A	chr7.hg19:g.75609862G>A	ENSP00000416572:p.Gly12Glu	0					POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000439269.1_5'Flank	p.G12E			1	2	3	2.000345	P16435	NCPR_HUMAN		1	45	+			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000450476.1	1	1	hg19	c.35G>A		1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555140	0.45487	.	.	ENSG00000127948	ENST00000450476	T	0.03094	4.05	3.16	-5.79	0.02354	3.16	-5.79	0.02354	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.19775	N	0.999955	P	0.34815	0.47	B	0.23574	0.047	T	0.39502	-0.9611	8	0.87932	D	0	.	0.3351	0.00325	0.374:0.1491:0.2365:0.2404	.	12	E7EVY7	.	E	12	ENSP00000416572:G12E	ENSP00000416572:G12E	G	+	2	0	0	POR	75447798	75447798	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.066000	0.03454	-1.195000	0.02680	0.465000	0.42564	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	POR-202	KNOWN	basic	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	55		55	53	1	2.060000	-20.000000	1	0.170000	NM_000941			63	63		253	248	1		1			0	0	55	0		1	0	0	0	0	0	0	63	253
POR	5447	broad.mit.edu	37	7	75609877	75609877	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609877T>C	ENST00000450476.1	+	1	60	c.50T>C	c.(49-51)gTa>gCa	p.V17A	POR_ENST00000461988.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000439269.1_5'Flank|POR_ENST00000419840.1_Intron|POR_ENST00000545601.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CAGATCCATGTATCTGAAAGG	0.637																																						ENST00000450476.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(49-51)gTa>gCa		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)																																			SO:0001583	missense	5447	0	0					g.chr7:75609877T>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.50T>C	chr7.hg19:g.75609877T>C	ENSP00000416572:p.Val17Ala	0					POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000439269.1_5'Flank	p.V17A			1	2	3	2.000345	P16435	NCPR_HUMAN		1	60	+			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000450476.1	1	1	hg19	c.50T>C		1	.	.	.	.	.	.	.	.	.	.	T	2.573	-0.299130	0.05532	.	.	ENSG00000127948	ENST00000450476	T	0.02944	4.1	2.86	-4.17	0.03857	2.86	-4.17	0.03857	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.47971	-0.9075	8	0.22109	T	0.4	.	1.4206	0.02311	0.17:0.1213:0.3948:0.3139	.	17	E7EVY7	.	A	17	ENSP00000416572:V17A	ENSP00000416572:V17A	V	+	2	0	0	POR	75447813	75447813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.040000	0.01416	-1.000000	0.03438	-1.277000	0.01392	GTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	POR-202	KNOWN	basic	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_000941			48	48		200	196	0		1			0	0	45	0		1	0	0	0	0	0	0	48	200
YWHAG	7532	broad.mit.edu	37	7	75959524	75959524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	38					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502																																						ENST00000307630.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(112-114)tcG>tcA		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma							76.0	58.0	64.0					7																	75959524		2203	4300	6503	SO:0001819	synonymous_variant	7532	1	121412	27				g.chr7:75959524C>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.114G>A	chr7.hg19:g.75959524C>T		0						p.S38S	NM_012479.3	NP_036611.2	1	2	3	2.000345	P61981	1433G_HUMAN		2	336	-			O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	1	1	hg19	c.114G>A	CCDS5584.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	1	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-20.000000	1	0.170000	NM_012479			60	59		245	240	1		1	1		0	0	47	0		1	1	0	109	0	286	0	60	245
SSC4D	136853	broad.mit.edu	37	7	76024632	76024632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76024632G>A	ENST00000275560.3	-	7	1231	c.884C>T	c.(883-885)aCg>aTg	p.T295M	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCTGTGAGCGTTGGGGGACC	0.627																																						ENST00000275560.3	1.000000	0.360000	8.000000e-01	4.700000e-01	0.610000	0.638187	0.610000	0.590000																										0				21						c.(883-885)aCg>aTg									53.0	51.0	52.0					7																	76024632		2203	4300	6503	SO:0001583	missense	0	1	121412	30				g.chr7:76024632G>A																												ENST00000275560.3:c.884C>T	chr7.hg19:g.76024632G>A	ENSP00000275560:p.Thr295Met	0					SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	p.T295M	NM_080744.1	NP_542782.1	1	2	3	2.000345				7	1231	-				Missense_Mutation	SNP	ENST00000275560.3	0	1	hg19	c.884C>T	CCDS5585.1	0	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780007	0.31502	.	.	ENSG00000146700	ENST00000275560	T	0.01287	5.05	4.03	4.03	0.46877	4.03	4.03	0.46877	Speract/scavenger receptor-related (1);	1.036360	0.07576	N	0.919459	T	0.01353	0.0044	N	0.14661	0.345	0.23435	N	0.99768	P	0.51653	0.947	B	0.39027	0.288	T	0.56463	-0.7975	10	0.46703	T	0.11	.	11.9696	0.53055	0.0:0.0:1.0:0.0	.	295	Q8WTU2	SRB4D_HUMAN	M	295	ENSP00000275560:T295M	ENSP00000275560:T295M	T	-	2	0	0	SRCRB4D	75862568	75862568	0.169000	0.23002	0.256000	0.24389	0.019000	0.09904	2.831000	0.48144	2.523000	0.85059	0.655000	0.94253	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-17.787270	1	0.170000				16	16		303	298	0		1			0	0	49	0		9.999304e-01	0	0	0	0	0	0	16	303
DTX2	113878	broad.mit.edu	37	7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	164	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGACCAACAAGACTTCCAGCT	0.647																																						ENST00000324432.5	1.000000	0.740000	1	9.100000e-01	0.990000	0.967712	0.990000	1.000000																										0				27						c.(490-492)aaG>aaT		deltex 2, E3 ubiquitin ligase							58.0	49.0	52.0					7																	76112048		2203	4300	6503	SO:0001583	missense	113878	0	0					g.chr7:76112048G>T		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.492G>T	chr7.hg19:g.76112048G>T	ENSP00000322885:p.Lys164Asn	0					DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N	p.K164N	NM_020892.2	NP_065943.2	1	2	3	2.000345	Q86UW9	DTX2_HUMAN		5	1002	+			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	1	1	hg19	c.492G>T	CCDS5587.1	1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737445	0.49045	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.41	3.6	0.41247	5.41	3.6	0.41247	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.52011	1.625	0.48901	D	0.999729	D;D;D	0.76494	0.996;0.999;0.996	D;D;P	0.71414	0.931;0.973;0.88	T	0.43114	-0.9411	10	0.33940	T	0.23	-28.7245	8.4975	0.33136	0.2368:0.0:0.7632:0.0	.	73;164;164	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	164;164;73;73;164;164;164	ENSP00000322885:K164N;ENSP00000305242:K164N;ENSP00000397648:K73N;ENSP00000390218:K164N;ENSP00000411986:K164N;ENSP00000392545:K164N	ENSP00000305242:K164N	K	+	3	2	2	AC005522.1	75949984	75949984	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	2.134000	0.42102	0.673000	0.31224	0.561000	0.74099	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	1		2	2	2	0		0	0	44		44	46	1	2.060000	-20.000000	1	0.170000				27	25		265	257	1		1	1		0	0	44	0		9.999999e-01	9.694092e-01	0	6	0	52	0	27	265
DTX2	113878	broad.mit.edu	37	7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000446600.1_Missense_Mutation_p.L361M|DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	452					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)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTCCACCTGCTGTGCCTCCT	0.647																																						ENST00000324432.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1354-1356)Ctg>Atg		deltex 2, E3 ubiquitin ligase							71.0	50.0	57.0					7																	76131738		2202	4295	6497	SO:0001583	missense	113878	0	0					g.chr7:76131738C>A		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.1354C>A	chr7.hg19:g.76131738C>A	ENSP00000322885:p.Leu452Met	0					DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M	p.L452M	NM_020892.2	NP_065943.2	1	2	3	2.000345	Q86UW9	DTX2_HUMAN		9	1864	+			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	1	1	hg19	c.1354C>A	CCDS5587.1	1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498720	0.85069	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85629	1.92;-2.01;1.92;1.92;1.92;-2.01	5.48	4.6	0.57074	5.48	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.139272	0.49916	D	0.000130	D	0.91751	0.7391	M	0.80183	2.485	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.987;0.939;1.0;0.987;0.961	D;D;D;D;D	0.97110	0.986;0.979;1.0;0.986;0.975	D	0.91606	0.5299	10	0.46703	T	0.11	-29.1279	12.9873	0.58598	0.0:0.9222:0.0:0.0778	.	361;83;361;405;452	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	M	452;405;361;361;452;452;405	ENSP00000322885:L452M;ENSP00000305242:L405M;ENSP00000397648:L361M;ENSP00000390218:L452M;ENSP00000411986:L452M;ENSP00000392545:L405M	ENSP00000305242:L405M	L	+	1	2	2	AC005522.1	75969674	75969674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.994000	0.70623	1.314000	0.45095	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				44	44		146	145	1		1	1		0	0	28	0		1	1	0	43	0	64	0	44	146
DTX2	113878	broad.mit.edu	37	7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A	rs532326466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000446600.1_Missense_Mutation_p.A365T|DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	456					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)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGCCTCCTGGCCATGTACTG	0.662													.|||	6	0.00119808	0.0	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0061					ENST00000324432.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1366-1368)Gcc>Acc		deltex 2, E3 ubiquitin ligase							62.0	44.0	50.0					7																	76131750		2200	4297	6497	SO:0001583	missense	113878	49	120948	44				g.chr7:76131750G>A		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.1366G>A	chr7.hg19:g.76131750G>A	ENSP00000322885:p.Ala456Thr	0					DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T	p.A456T	NM_020892.2	NP_065943.2	1	2	3	2.000345	Q86UW9	DTX2_HUMAN		9	1876	+			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	1	1	hg19	c.1366G>A	CCDS5587.1	1	.	.	.	.	.	.	.	.	.	.	.	33	5.238086	0.95240	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85955	1.9;-2.05;1.9;1.9;1.9;-2.05	5.48	4.57	0.56435	5.48	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.105806	0.64402	D	0.000005	D	0.92286	0.7553	M	0.84326	2.69	0.80722	D	1	D;P;D;P;B	0.89917	0.976;0.954;1.0;0.944;0.278	D;D;D;D;P	0.97110	0.948;0.927;1.0;0.948;0.668	D	0.92566	0.6062	10	0.51188	T	0.08	-25.3383	14.377	0.66884	0.0:0.0:0.8509:0.1491	.	365;87;365;409;456	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	T	456;409;365;365;456;456;409	ENSP00000322885:A456T;ENSP00000305242:A409T;ENSP00000397648:A365T;ENSP00000390218:A456T;ENSP00000411986:A456T;ENSP00000392545:A409T	ENSP00000305242:A409T	A	+	1	0	0	AC005522.1	75969686	75969686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	1.258000	0.44101	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	0		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				47	47		140	139	1		1	1		0	0	27	0		1	1	0	26	0	61	0	47	140
PTPN12	5782	broad.mit.edu	37	7	77166902	77166902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	ENST00000248594.6	+	1	311	c.39G>A	c.(37-39)agG>agA	p.R13R	PTPN12_ENST00000435495.2_5'Flank|PTPN12_ENST00000415482.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	13					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)			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						TCATCCAGAGGGTCCAGGCCA	0.667																																						ENST00000248594.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998861	0.990000	1.000000																										0				39						c.(37-39)agG>agA		protein tyrosine phosphatase, non-receptor type 12							46.0	41.0	43.0					7																	77166902		2203	4300	6503	SO:0001819	synonymous_variant	5782	0	0					g.chr7:77166902G>A		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.39G>A	chr7.hg19:g.77166902G>A		0					PTPN12_ENST00000435495.2_5'Flank|PTPN12_ENST00000415482.2_5'Flank	p.R13R	NM_002835.3	NP_002826.3	1	2	3	2.000345	Q05209	PTN12_HUMAN		1	311	+			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	0	1	hg19	c.39G>A	CCDS5592.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-19.999950	1	0.170000				14	14		71	69	0		1	1		0	0	16	0		9.998127e-01	9.999952e-01	0	41	0	89	0	14	71
PHTF2	57157	broad.mit.edu	37	7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000248550.7	+	13	1664	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S|PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373																																						ENST00000248550.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1588-1590)Gca>Tca		putative homeodomain transcription factor 2							118.0	109.0	112.0					7																	77569467		1871	4107	5978	SO:0001583	missense	57157	0	0					g.chr7:77569467G>T	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.1588G>T	chr7.hg19:g.77569467G>T	ENSP00000248550:p.Ala530Ser	0					PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S	p.A530S			1	2	3	2.000345	Q8N3S3	PHTF2_HUMAN		13	1664	+			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	1	1	hg19	c.1588G>T		1	.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179508	0.06380	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	-0.561	0.11785	5.67	-0.561	0.11785	.	0.372810	0.28082	N	0.016665	T	0.17023	0.0409	N	0.08118	0	0.24462	N	0.994431	B;B;B;B;B;B	0.12630	0.004;0.005;0.006;0.003;0.001;0.0	B;B;B;B;B;B	0.13407	0.002;0.007;0.009;0.003;0.002;0.001	T	0.32587	-0.9901	9	0.02654	T	1	-2.4148	11.3773	0.49735	0.5221:0.0:0.4779:0.0	.	291;492;496;530;492;492	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	496;496;492;492;492;496;530	.	ENSP00000248550:A530S	A	+	1	0	0	PHTF2	77407403	77407403	0.888000	0.30383	0.969000	0.41365	0.995000	0.86356	0.168000	0.16622	-0.147000	0.11254	0.557000	0.71058	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.999870	1	0.170000	NM_020432			42	41		197	196	1		1	1		0	0	44	0		1	9.998411e-01	0	6	0	59	0	42	197
MAGI2	9863	broad.mit.edu	37	7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1289					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)			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)				GTGTTCCCGTTTGATATCCCA	0.622																																						ENST00000354212.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(3865-3867)aAa>aCa		membrane associated guanylate kinase, WW and PDZ domain containing 2							83.0	98.0	92.0					7																	77649134		2203	4300	6503	SO:0001583	missense	9863	1	121412	31				g.chr7:77649134T>G	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.3866A>C	chr7.hg19:g.77649134T>G	ENSP00000346151:p.Lys1289Thr	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	p.K1289T	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		22	4119	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.3866A>C	CCDS5594.1	1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.964108	0.34659	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.10668	2.85;2.85	4.59	3.45	0.39498	4.59	3.45	0.39498	.	.	.	.	.	T	0.05960	0.0155	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.007	T	0.31420	-0.9944	9	0.15499	T	0.54	.	9.518	0.39117	0.0:0.0843:0.0:0.9157	.	1275;1289	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1275;1289	ENSP00000405766:K1275T;ENSP00000346151:K1289T	ENSP00000346151:K1289T	K	-	2	0	0	MAGI2	77487070	77487070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.347000	0.65998	1.710000	0.51325	0.445000	0.29226	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_012301			110	109		444	433	0		1	0		0	0	80	0		1	5.610954e-01	0	0	0	9	0	110	444
MAGI2	9863	broad.mit.edu	37	7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1138					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)			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)				CCTGGGGTTGTCTGTAGTCCG	0.592																																						ENST00000354212.4	1.000000	0.720000	1	8.400000e-01	0.970000	0.935550	0.970000	1.000000																										0				84						c.(3412-3414)agA>agC		membrane associated guanylate kinase, WW and PDZ domain containing 2							81.0	85.0	84.0					7																	77756523		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77756523T>G	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.3414A>C	chr7.hg19:g.77756523T>G	ENSP00000346151:p.Arg1138Ser	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	p.R1138S	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		19	3667	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.3414A>C	CCDS5594.1	1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744693	0.49151	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.16073	2.37;2.37;2.37	5.33	3.52	0.40303	5.33	3.52	0.40303	PDZ/DHR/GLGF (1);	0.000000	0.39544	U	0.001328	T	0.24353	0.0590	L	0.27053	0.805	0.80722	D	1	D;P;D	0.63880	0.981;0.73;0.993	D;B;D	0.72338	0.966;0.391;0.977	T	0.01323	-1.1385	10	0.41790	T	0.15	.	8.78	0.34785	0.0:0.6451:0.0:0.3549	.	1138;1124;1138	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1124;1138;1138;1138	ENSP00000405766:R1124S;ENSP00000346151:R1138S;ENSP00000428389:R1138S	ENSP00000346151:R1138S	R	-	3	2	2	MAGI2	77594459	77594459	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	0.043000	0.13971	0.733000	0.32492	-0.132000	0.14878	AGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_012301			50	49		565	547	0		1	0		0	0	136	0		1	3.546196e-01	0	0	0	15	0	50	565
MAGI2	9863	broad.mit.edu	37	7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	875					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)			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)				AGAGCCTGGACTTCTCCCGTT	0.537																																						ENST00000354212.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(2623-2625)aGt>aAt		membrane associated guanylate kinase, WW and PDZ domain containing 2							123.0	115.0	117.0					7																	77789563		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77789563C>T	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.2624G>A	chr7.hg19:g.77789563C>T	ENSP00000346151:p.Ser875Asn	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	p.S875N	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		16	2877	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.2624G>A	CCDS5594.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.344979	0.95807	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.84;2.84;2.75	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.42548	U	0.000685	T	0.32010	0.0815	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.985;0.99;0.993	P;D;P	0.63488	0.715;0.915;0.813	T	0.00822	-1.1552	10	0.54805	T	0.06	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	875;861;875	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	861;875;875;875	ENSP00000405766:S861N;ENSP00000346151:S875N;ENSP00000428389:S875N	ENSP00000346151:S875N	S	-	2	0	0	MAGI2	77627499	77627499	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_012301			61	61		249	245	1		1	0		0	0	56	0		1	6.165294e-01	0	0	0	10	0	61	249
MAGI2	9863	broad.mit.edu	37	7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	513					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)			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)				GGATCAAAGGGCAAAGGGTAG	0.488																																						ENST00000354212.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999840	0.990000	1.000000																										0				84						c.(1537-1539)Ccc>Tcc		membrane associated guanylate kinase, WW and PDZ domain containing 2							75.0	63.0	67.0					7																	77885770		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77885770G>A	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.1537C>T	chr7.hg19:g.77885770G>A	ENSP00000346151:p.Pro513Ser	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S	p.P513S	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		10	1790	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.1537C>T	CCDS5594.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082237	0.76528	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.93	5.05	0.67936	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002563	T	0.68210	0.2976	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.797;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.959;0.998;0.998;1.0;0.998	T	0.74708	-0.3574	10	0.87932	D	0	.	16.3924	0.83544	0.0:0.1314:0.8686:0.0	.	350;345;513;513;513;513	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	513;513;513;513;345;350	ENSP00000405766:P513S;ENSP00000346151:P513S;ENSP00000428389:P513S;ENSP00000441584:P345S;ENSP00000441603:P350S	ENSP00000346151:P513S	P	-	1	0	0	MAGI2	77723706	77723706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	1.508000	0.48769	0.555000	0.69702	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_012301			25	24		139	137	1		1	0		0	0	42	0		9.999999e-01	4.207765e-01	0	0	0	9	0	25	139
MAGI2	9863	broad.mit.edu	37	7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	416					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)			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)				CTGGGATGCATCCCGGGTGAA	0.443																																						ENST00000354212.4	1.000000	0.320000	7.700000e-01	4.300000e-01	0.570000	0.605244	0.570000	0.550000																										0				84						c.(1246-1248)gAt>gGt		membrane associated guanylate kinase, WW and PDZ domain containing 2							100.0	84.0	90.0					7																	77973256		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77973256T>C	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.1247A>G	chr7.hg19:g.77973256T>C	ENSP00000346151:p.Asp416Gly	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G	p.D416G	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		9	1500	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.1247A>G	CCDS5594.1	0	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667297	0.88348	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.91	5.91	0.95273	5.91	5.91	0.95273	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002025	T	0.63474	0.2514	M	0.67397	2.05	0.80722	D	1	D;P;P;P;D;D	0.76494	0.998;0.615;0.942;0.942;0.999;0.977	D;P;P;P;D;D	0.81914	0.991;0.703;0.862;0.862;0.995;0.991	T	0.66240	-0.5973	10	0.72032	D	0.01	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;248;416;416;416;416	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	G	416;416;416;416;248;253	ENSP00000405766:D416G;ENSP00000346151:D416G;ENSP00000428389:D416G;ENSP00000441584:D248G;ENSP00000441603:D253G	ENSP00000346151:D416G	D	-	2	0	0	MAGI2	77811192	77811192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	0		2	2	2	0		0	0	43		43	43	1	2.060000	-4.561888	1	0.170000	NM_012301			14	13		284	272	0		1	0		0	0	43	0		9.996891e-01	5.940909e-02	0	0	0	8	0	14	284
MAGI2	9863	broad.mit.edu	37	7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|RPL13AP17_ENST00000450028.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	379	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)			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)				TCCAGGACAGGATTTTCAAAC	0.423																																						ENST00000354212.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1135-1137)Cct>Tct		membrane associated guanylate kinase, WW and PDZ domain containing 2							195.0	183.0	187.0					7																	77975329		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77975329G>A	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.1135C>T	chr7.hg19:g.77975329G>A	ENSP00000346151:p.Pro379Ser	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S	p.P379S	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		8	1388	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.1135C>T	CCDS5594.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861842	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.73	5.73	0.89815	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.36482	U	0.002563	D	0.99701	0.9886	H	0.98068	4.14	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	D	0.97426	1.0012	10	0.87932	D	0	.	18.8946	0.92419	0.0:0.0:1.0:0.0	.	216;211;379;379	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	379;379;379;379;211;216	ENSP00000405766:P379S;ENSP00000346151:P379S;ENSP00000428389:P379S;ENSP00000441584:P211S;ENSP00000441603:P216S	ENSP00000346151:P379S	P	-	1	0	0	MAGI2	77813265	77813265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.693000	0.91896	0.655000	0.94253	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_012301			80	79		373	365	1		1	0		0	0	75	0		1	3.619074e-01	0	0	0	7	0	80	373
MAGI2	9863	broad.mit.edu	37	7	78130968	78130968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	297					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)			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)				GTTCCTCATTGTCTTCAGGTT	0.488																																						ENST00000354212.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(889-891)gaC>gaT		membrane associated guanylate kinase, WW and PDZ domain containing 2							343.0	269.0	294.0					7																	78130968		2203	4300	6503	SO:0001819	synonymous_variant	9863	0	0					g.chr7:78130968G>A	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.891C>T	chr7.hg19:g.78130968G>A		0					MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D	p.D297D	NM_012301.3	NP_036433.2	1	2	3	2.000345	Q86UL8	MAGI2_HUMAN		5	1144	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	1	1	hg19	c.891C>T	CCDS5594.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_012301			94	92		430	428	0		1	0		0	0	82	0		1	2.240777e-01	0	0	0	5	0	94	430
GNAI1	2770	broad.mit.edu	37	7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	283					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)			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						AAGAGCCCTCTCACTATATGC	0.333																																						ENST00000351004.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(847-849)cTc>cAc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							65.0	73.0	70.0					7																	79842159		2203	4292	6495	SO:0001583	missense	2770	0	0					g.chr7:79842159T>A	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.848T>A	chr7.hg19:g.79842159T>A	ENSP00000343027:p.Leu283His	0					GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	p.L283H	NM_002069.5	NP_002060.4	1	2	3	2.000345	P63096	GNAI1_HUMAN		7	1221	+			A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	1	1	hg19	c.848T>A	CCDS5595.1	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750899	0.89753	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90620	-2.7;-2.7	6.13	6.13	0.99165	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99160	1.0861	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	283	P63096	GNAI1_HUMAN	H	283;231	ENSP00000343027:L283H;ENSP00000410572:L231H	.	L	+	2	0	0	GNAI1	79680095	79680095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_002069			68	68		255	254	1		1	1		0	0	117	0		1	1	0	16	0	125	0	68	255
SEMA3C	10512	broad.mit.edu	37	7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	668					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)			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						CGTCACAACAGCCACCATTTC	0.483																																						ENST00000265361.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(2002-2004)gCt>gTt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							86.0	79.0	82.0					7																	80374463		2203	4300	6503	SO:0001583	missense	10512	0	0					g.chr7:80374463G>A	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.2003C>T	chr7.hg19:g.80374463G>A	ENSP00000265361:p.Ala668Val	0					SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	p.A668V	NM_006379.3	NP_006370.1	1	2	3	2.000345	Q99985	SEM3C_HUMAN		18	2564	-			B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	1	1	hg19	c.2003C>T	CCDS5596.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006985	0.54361	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.202241	0.52532	D	0.000063	T	0.21347	0.0514	N	0.19112	0.55	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.02942	-1.1091	10	0.51188	T	0.08	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	686;668	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	668;668;686	ENSP00000265361:A668V;ENSP00000411193:A668V;ENSP00000445649:A686V	ENSP00000265361:A668V	A	-	2	0	0	SEMA3C	80212399	80212399	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.594000	0.67557	2.636000	0.89361	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_006379			79	76		334	328	1		1	1		0	0	62	0		1	1	0	90	0	222	0	79	334
CACNA2D1	781	broad.mit.edu	37	7	81603842	81603842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81603842G>A	ENST00000356253.5	-	25	2273	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S661L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	673					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)			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)	GTTATTATCCGATATTTTCAG	0.269																																						ENST00000356253.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999911	0.990000	1.000000																										0				81						c.(2017-2019)tCg>tTg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	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)						54.0	53.0	53.0					7																	81603842		2197	4278	6475	SO:0001583	missense	781	1	121192	28				g.chr7:81603842G>A	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.2018C>T	chr7.hg19:g.81603842G>A	ENSP00000348589:p.Ser673Leu	0					CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S661L	p.S673L			1	2	3	2.000345	P54289	CA2D1_HUMAN		25	2273	-			Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	1	0	hg19	c.2018C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.763350|2.763350	0.49574|0.49574	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.07908	.|3.15;3.15	4.87|4.87	4.87|4.87	0.63330|0.63330	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23846|0.23846	0.0577|0.0577	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.56343	.|0.796	T|T	0.01159|0.01159	-1.1433|-1.1433	5|10	.|0.34782	.|T	.|0.22	-10.6814|-10.6814	17.3495|17.3495	0.87320|0.87320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|661	.|P54289-2	.|.	W|L	172|661;680;673	.|ENSP00000349320:S661L;ENSP00000348589:S673L	.|ENSP00000284088:S680L	R|S	-|-	1|2	2|0	2|0	CACNA2D1|CACNA2D1	81441778|81441778	81441778|81441778	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.218000|0.218000	0.24690|0.24690	7.034000|7.034000	0.76511|0.76511	2.408000|2.408000	0.81797|0.81797	0.591000|0.591000	0.81541|0.81541	CGG|TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.269	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				19	19		83	83	1		1	0		0	0	21	0		9.999954e-01	8.459292e-01	0	0	0	17	0	19	83
CACNA2D1	781	broad.mit.edu	37	7	81964505	81964505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000356253.5	-	3	495	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356860.3_Silent_p.E80E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80					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)			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)	TGGCTGCAATTTCTACCAGCT	0.343																																						ENST00000356253.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				81						c.(238-240)gaA>gaG		calcium channel, voltage-dependent, alpha 2/delta subunit 1	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)						186.0	193.0	190.0					7																	81964505		2203	4300	6503	SO:0001819	synonymous_variant	781	0	0					g.chr7:81964505T>C	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.240A>G	chr7.hg19:g.81964505T>C		0					CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356860.3_Silent_p.E80E	p.E80E			1	2	3	2.000345	P54289	CA2D1_HUMAN		3	495	-			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	1	1	hg19	c.240A>G		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	212		212	209	1	2.060000	-20.000000	1	0.170000				215	213		885	863	0		1	0		0	0	212	0		1	9.353749e-01	0	0	0	21	0	215	885
PCLO	27445	broad.mit.edu	37	7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						TTTGATAACAGATGGCTTTGG	0.418																																						ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(14548-14550)tCt>tTt		piccolo presynaptic cytomatrix protein							106.0	101.0	103.0					7																	82453599		1979	4163	6142	SO:0001583	missense	27445	0	0					g.chr7:82453599G>A	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.14549C>T	chr7.hg19:g.82453599G>A	ENSP00000334319:p.Ser4850Phe	0					PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F	p.S4850F	NM_033026.5	NP_149015.2	1	2	3	2.000345				19	14886	-				Missense_Mutation	SNP	ENST00000333891.9	1	1	hg19	c.14549C>T	CCDS47630.1	1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20069	2.15;2.1	5.48	5.48	0.80851	5.48	5.48	0.80851	.	.	.	.	.	T	0.39091	0.1065	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.18618	-1.0331	9	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	4850;4850;271;338	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4850;4850;337	ENSP00000334319:S4850F;ENSP00000388393:S4850F	ENSP00000334319:S4850F	S	-	2	0	0	PCLO	82291535	82291535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.583000	0.87209	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_014510			30	30		109	108	1		1	1		0	0	24	0		1	7.655167e-01	0	5	0	7	0	30	109
PCLO	27445	broad.mit.edu	37	7	82453619	82453619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4843S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GGGACTGCTGGCTGCTCTGAC	0.423																																						ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(14527-14529)agC>agT		piccolo presynaptic cytomatrix protein							100.0	99.0	99.0					7																	82453619		2001	4184	6185	SO:0001819	synonymous_variant	27445	1	120920	27				g.chr7:82453619G>A	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.14529C>T	chr7.hg19:g.82453619G>A		0					PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4843S	p.S4843S	NM_033026.5	NP_149015.2	1	2	3	2.000345				19	14866	-				Silent	SNP	ENST00000333891.9	1	1	hg19	c.14529C>T	CCDS47630.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0		2	2	2	0		0	0	26		26	26	1	2.060000	-19.999990	1	0.170000	NM_014510			36	35		120	117	0		1	1		0	0	26	0		1	7.995795e-01	0	2	0	10	0	36	120
PCLO	27445	broad.mit.edu	37	7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N|PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						CTGATCCCTGGTGTCTGCAGA	0.532																																						ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(13162-13164)aCc>aAc		piccolo presynaptic cytomatrix protein							87.0	89.0	88.0					7																	82544139		2047	4194	6241	SO:0001583	missense	27445	0	0					g.chr7:82544139G>T	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.13163C>A	chr7.hg19:g.82544139G>T	ENSP00000334319:p.Thr4388Asn	0					PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N	p.T4388N	NM_033026.5	NP_149015.2	1	2	3	2.000345				7	13500	-				Missense_Mutation	SNP	ENST00000333891.9	1	1	hg19	c.13163C>A	CCDS47630.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347387	0.41599	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.75	5.75	0.90469	5.75	5.75	0.90469	.	.	.	.	.	T	0.42426	0.1202	M	0.65498	2.005	0.50039	D	0.999844	D;D;D	0.71674	0.988;0.998;0.998	P;D;D	0.66351	0.779;0.943;0.943	T	0.17561	-1.0365	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4319;4388;4388	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4388;4388;1108	ENSP00000334319:T4388N;ENSP00000388393:T4388N	ENSP00000334319:T4388N	T	-	2	0	0	PCLO	82382075	82382075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.725000	0.93324	0.655000	0.94253	ACC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_014510			43	44		180	175	1		1	1		0	0	39	0		1	8.635679e-01	0	6	0	11	0	43	180
PCLO	27445	broad.mit.edu	37	7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						ACTTTCTATTCGGGTTGGTCT	0.458																																						ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(11536-11538)cGa>cAa		piccolo presynaptic cytomatrix protein																																				SO:0001583	missense	27445	5	120982	42				g.chr7:82545765C>T	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.11537G>A	chr7.hg19:g.82545765C>T	ENSP00000334319:p.Arg3846Gln	0					PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q	p.R3846Q	NM_033026.5	NP_149015.2	1	2	3	2.000345				7	11874	-				Missense_Mutation	SNP	ENST00000333891.9	1	1	hg19	c.11537G>A	CCDS47630.1	1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987688	0.35036	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.8	5.8	0.92144	5.8	5.8	0.92144	.	.	.	.	.	T	0.44074	0.1276	M	0.65498	2.005	0.48571	D	0.999673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.92;0.99;0.99	T	0.22208	-1.0223	9	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	3777;3846;3846	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3846;3846;566	ENSP00000334319:R3846Q;ENSP00000388393:R3846Q	ENSP00000334319:R3846Q	R	-	2	0	0	PCLO	82383701	82383701	1.000000	0.71417	0.955000	0.39395	0.309000	0.27889	4.800000	0.62524	2.758000	0.94735	0.563000	0.77884	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_014510			180	174		741	706	1		1	1		0	0	156	0		1	4.122582e-01	0	4	0	3	0	180	741
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A	rs181143686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						ACACGGTTTCGGATAAGCTAC	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11761	0.0		0.0	False		,,,				2504	0.0					ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(7006-7008)tcC>tcT		piccolo presynaptic cytomatrix protein		G	,	2,3710		0,2,1854	103.0	104.0	104.0		7008,7008	-5.3	0.0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG		0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant	27445	12	120810	47				g.chr7:82583261G>A	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.7008C>T	chr7.hg19:g.82583261G>A		0					PCLO_ENST00000423517.2_Silent_p.S2336S	p.S2336S	NM_033026.5	NP_149015.2	1	2	3	2.000345				5	7345	-				Silent	SNP	ENST00000333891.9	1	1	hg19	c.7008C>T	CCDS47630.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-2.492339	0	0.170000	NM_014510			106	105		550	543	1		1	0		0	0	119	0		1	7.094494e-02	0	1	0	2	0	106	550
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82764246C>A	ENST00000333891.9	-	3	2957	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	PCLO_ENST00000423517.2_Missense_Mutation_p.G874W	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GTTGGTGACCCTTTTGGCATT	0.517																																						ENST00000333891.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				259						c.(2620-2622)Ggg>Tgg		piccolo presynaptic cytomatrix protein							197.0	198.0	198.0					7																	82764246		1996	4167	6163	SO:0001583	missense	27445	0	0					g.chr7:82764246C>A	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.2620G>T	chr7.hg19:g.82764246C>A	ENSP00000334319:p.Gly874Trp	0					PCLO_ENST00000423517.2_Missense_Mutation_p.G874W	p.G874W	NM_033026.5	NP_149015.2	1	2	3	2.000345				3	2957	-				Missense_Mutation	SNP	ENST00000333891.9	1	0	hg19	c.2620G>T	CCDS47630.1	1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181205	0.21787	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	6.07	5.17	0.71159	6.07	5.17	0.71159	.	.	.	.	.	T	0.36386	0.0965	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.12400	-1.0549	9	0.87932	D	0	.	11.6472	0.51267	0.125:0.8098:0.0:0.0653	.	874;874	Q9Y6V0-5;Q9Y6V0-6	.;.	W	820;874;874	ENSP00000334319:G874W;ENSP00000388393:G874W	ENSP00000334319:G874W	G	-	1	0	0	PCLO	82602182	82602182	0.676000	0.27567	0.997000	0.53966	0.986000	0.74619	1.218000	0.32467	1.526000	0.49068	0.655000	0.94253	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1		2	2	2	0		0	0	221		221	218	1	2.060000	-3.066217	1	0.170000	NM_014510			245	236		1072	1032	1		1	1		0	0	221	0		1	2.349653e-01	0	3	0	2	0	245	1072
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	203	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)			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						CCCAAGAGTTCGGAAGATAGC	0.428																																						ENST00000265362.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(607-609)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							217.0	194.0	202.0					7																	83675699		2203	4300	6503	SO:0001583	missense	10371	0	0					g.chr7:83675699C>T	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.608G>A	chr7.hg19:g.83675699C>T	ENSP00000265362:p.Arg203Gln	0					SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	p.R203Q	NM_006080.2	NP_006071.1	1	2	3	2.000345	Q14563	SEM3A_HUMAN		6	922	-				Missense_Mutation	SNP	ENST00000265362.4	1	1	hg19	c.608G>A	CCDS5599.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.818528	0.96982	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.59224	0.28;0.28	5.88	5.88	0.94601	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.85099	2.735	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.81571	-0.0872	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	203	Q14563	SEM3A_HUMAN	Q	203	ENSP00000265362:R203Q;ENSP00000415260:R203Q	ENSP00000265362:R203Q	R	-	2	0	0	SEMA3A	83513635	83513635	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-3.152556	1	0.170000	NM_006080			135	130		575	565	1		1	1		0	0	124	0		1	9.561838e-01	0	3	0	21	0	135	575
SEMA3D	223117	broad.mit.edu	37	7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	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	537	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1609-1611)Tat>Cat		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							149.0	137.0	141.0					7																	84644469		2203	4300	6503	SO:0001583	missense	223117	0	0					g.chr7:84644469A>G	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.1609T>C	chr7.hg19:g.84644469A>G	ENSP00000284136:p.Tyr537His	0					SEMA3D_ENST00000484038.1_5'UTR	p.Y537H	NM_152754.2	NP_689967.2	1	2	3	2.000345	O95025	SEM3D_HUMAN		14	1652	-			A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	1	1	hg19	c.1609T>C	CCDS34676.1	1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686904	0.88639	.	.	ENSG00000153993	ENST00000284136	T	0.43294	0.95	5.75	5.75	0.90469	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67484	-0.5659	10	0.52906	T	0.07	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	537	O95025	SEM3D_HUMAN	H	537	ENSP00000284136:Y537H	ENSP00000284136:Y537H	Y	-	1	0	0	SEMA3D	84482405	84482405	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	0	1		19	2	2	1		1	1	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_152754			97	96		377	372	1		1	0		1	0	83	0		1	0	0	0	0	1	0	97	377
SEMA3D	223117	broad.mit.edu	37	7	84651710	84651710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	ENST00000284136.6	-	11	1454	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	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	471	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)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTACCTGTTCCAAGAAAC	0.328																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1411-1413)Aca>Gca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							179.0	165.0	170.0					7																	84651710		2203	4300	6503	SO:0001583	missense	223117	0	0					g.chr7:84651710T>C	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.1411A>G	chr7.hg19:g.84651710T>C	ENSP00000284136:p.Thr471Ala	0					SEMA3D_ENST00000484038.1_5'UTR	p.T471A	NM_152754.2	NP_689967.2	1	2	3	2.000345	O95025	SEM3D_HUMAN		11	1454	-			A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	1	1	hg19	c.1411A>G	CCDS34676.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094341	0.76870	.	.	ENSG00000153993	ENST00000284136	T	0.33216	1.42	5.67	5.67	0.87782	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74022	-0.3798	10	0.87932	D	0	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	471	O95025	SEM3D_HUMAN	A	471	ENSP00000284136:T471A	ENSP00000284136:T471A	T	-	1	0	0	SEMA3D	84489646	84489646	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	0	0		2	2	2	0		0	0	151		151	149	1	2.060000	-20.000000	1	0.170000	NM_152754			165	160		643	631	0		1	0		0	0	151	0		1	4.220061e-02	0	0	0	2	0	165	643
SEMA3D	223117	broad.mit.edu	37	7	84651735	84651735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	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	462	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)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1384-1386)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							245.0	218.0	227.0					7																	84651735		2203	4300	6503	SO:0001819	synonymous_variant	223117	0	0					g.chr7:84651735G>A	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.1386C>T	chr7.hg19:g.84651735G>A		0					SEMA3D_ENST00000484038.1_5'UTR	p.G462G	NM_152754.2	NP_689967.2	1	2	3	2.000345	O95025	SEM3D_HUMAN		11	1429	-			A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	1	1	hg19	c.1386C>T	CCDS34676.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	1	0	0		2	2	2	0		0	0	188		188	187	1	2.060000	-20.000000	1	0.170000	NM_152754			202	197		777	764	1		1	0		0	0	188	0		1	0	0	0	0	1	0	202	777
SEMA3D	223117	broad.mit.edu	37	7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	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	372	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)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1114-1116)Cca>Aca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							128.0	111.0	117.0					7																	84666282		2203	4300	6503	SO:0001583	missense	223117	0	0					g.chr7:84666282G>T	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.1114C>A	chr7.hg19:g.84666282G>T	ENSP00000284136:p.Pro372Thr	0					SEMA3D_ENST00000484038.1_5'UTR	p.P372T	NM_152754.2	NP_689967.2	1	2	3	2.000345	O95025	SEM3D_HUMAN		10	1157	-			A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	1	1	hg19	c.1114C>A	CCDS34676.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067582	0.76301	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.89	5.89	0.94794	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046255	0.85682	D	0.000000	T	0.62600	0.2441	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69760	-0.5058	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	372	O95025	SEM3D_HUMAN	T	372	ENSP00000284136:P372T	ENSP00000284136:P372T	P	-	1	0	0	SEMA3D	84504218	84504218	1.000000	0.71417	0.947000	0.38551	0.396000	0.30629	9.773000	0.98989	2.788000	0.95919	0.585000	0.79938	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.738216	1	0.170000	NM_152754			93	93		361	359	1		1	0		0	0	59	0		1	0	0	0	0	1	0	93	361
GRM3	2913	broad.mit.edu	37	7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	577					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACGCCTGGGCCATTGGCCCA	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(1729-1731)gCc>gTc		glutamate receptor, metabotropic 3							102.0	98.0	100.0					7																	86468560		2203	4300	6503	SO:0001583	missense	2913	0	0					g.chr7:86468560C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1730C>T	chr7.hg19:g.86468560C>T	ENSP00000355316:p.Ala577Val	0					GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000439827.1_Intron	p.A577V	NM_000840.2	NP_000831.2	1	2	3	2.000345	Q14832	GRM3_HUMAN		4	2829	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	1	1	hg19	c.1730C>T	CCDS5600.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736591	0.89482	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89123	-2.47;-2.41;-2.25	6.16	6.16	0.99307	6.16	6.16	0.99307	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.974;0.994;0.997	P;D;D	0.68943	0.677;0.961;0.96	D	0.95375	0.8468	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	169;449;577	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	577;169;449	ENSP00000355316:A577V;ENSP00000444064:A169V;ENSP00000441407:A449V	ENSP00000355316:A577V	A	+	2	0	0	GRM3	86306496	86306496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.507171	1	0.170000				75	72		317	316	1		1	0		0	0	74	0		1	0	0	0	0	1	0	75	317
GRM3	2913	broad.mit.edu	37	7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	740					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATGTTGATCTCTCTTACCTAC	0.468																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2	1.000000	0.700000	1	8.400000e-01	0.990000	0.944748	0.990000	1.000000																										0				109						c.(2218-2220)tCt>tTt		glutamate receptor, metabotropic 3							127.0	109.0	115.0					7																	86469049		2203	4300	6503	SO:0001583	missense	2913	0	0					g.chr7:86469049C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2219C>T	chr7.hg19:g.86469049C>T	ENSP00000355316:p.Ser740Phe	0					GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000439827.1_Intron	p.S740F	NM_000840.2	NP_000831.2	1	2	3	2.000345	Q14832	GRM3_HUMAN		4	3318	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	1	1	hg19	c.2219C>T	CCDS5600.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964456	0.74131	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88354	-2.37;-2.37;-2.37	5.54	5.54	0.83059	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89287	3.02	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	0.95901	0.8915	10	0.72032	D	0.01	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	332;612;740	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	F	740;332;612	ENSP00000355316:S740F;ENSP00000444064:S332F;ENSP00000441407:S612F	ENSP00000355316:S740F	S	+	2	0	0	GRM3	86306985	86306985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-3.318794	1	0.170000				30	30		322	315	0		1			0	0	65	0		1	0	0	0	0	0	0	30	322
KIAA1324L	222223	broad.mit.edu	37	7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000450689.2	-	18	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	835						integral component of membrane (GO:0016021)				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)					CCTCATTTTCACAGCAGTTGA	0.343																																						ENST00000450689.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2503-2505)gTg>gCg		KIAA1324-like							121.0	109.0	113.0					7																	86537040		2203	4300	6503	SO:0001583	missense	222223	0	0					g.chr7:86537040A>G	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.2504T>C	chr7.hg19:g.86537040A>G	ENSP00000413445:p.Val835Ala	0					KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	p.V835A	NM_001142749.2	NP_001136221.1	1	2	3	2.000345	A8MWY0	K132L_HUMAN		18	2689	-	Esophageal squamous(14;0.0058)		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	1	1	hg19	c.2504T>C	CCDS47632.1	1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952311	0.92660	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.97	5.97	0.96955	5.97	5.97	0.96955	Mannose-6-phosphate receptor, binding (1);	0.113441	0.64402	D	0.000010	T	0.19805	0.0476	M	0.78801	2.425	0.80722	D	1	P;P;P	0.52170	0.951;0.925;0.925	P;B;B	0.55112	0.769;0.435;0.435	T	0.00402	-1.1762	10	0.40728	T	0.16	.	13.8398	0.63432	1.0:0.0:0.0:0.0	.	835;595;668	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	A	835;595;764;668	ENSP00000413445:V835A;ENSP00000297222:V595A;ENSP00000397377:V764A;ENSP00000402390:V668A	ENSP00000297222:V595A	V	-	2	0	0	KIAA1324L	86374976	86374976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.130000	0.89598	2.289000	0.77006	0.459000	0.35465	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_152748			66	66		303	301	1		1	0		0	0	68	0		1	9.081020e-01	0	0	0	21	0	66	303
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2. {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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438																																						ENST00000394703.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(103-105)caG>caT		cyclin D binding myb-like transcription factor 1							74.0	58.0	64.0					7																	86794362		2203	4300	6503	SO:0001583	missense	9988	0	0					g.chr7:86794362G>T	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.105G>T	chr7.hg19:g.86794362G>T	ENSP00000378193:p.Gln35His	0					DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H	p.Q35H	NM_021145.3	NP_066968.3	1	2	3	2.000345	Q9Y222	DMTF1_HUMAN		5	668	+	Esophageal squamous(14;0.0058)		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	1	1	hg19	c.105G>T	CCDS5601.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991491	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.8;0.69	5.29	4.4	0.53042	5.29	4.4	0.53042	.	0.224659	0.46145	N	0.000314	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.51220	-0.8733	10	0.62326	D	0.03	-2.0242	5.0045	0.14280	0.1599:0.0:0.6568:0.1833	.	35	Q9Y222	DMTF1_HUMAN	H	35	ENSP00000332171:Q35H;ENSP00000402627:Q35H;ENSP00000378193:Q35H	ENSP00000332171:Q35H	Q	+	3	2	2	DMTF1	86632298	86632298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	1.354000	0.45846	0.655000	0.94253	CAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_021145			36	36		112	110	1		1	1		0	0	40	0		1	9.997594e-01	0	7	0	37	0	36	112
DMTF1	9988	broad.mit.edu	37	7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000394703.5	+	15	1938	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	459	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423																																						ENST00000394703.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1375-1377)Gca>Aca		cyclin D binding myb-like transcription factor 1							169.0	162.0	164.0					7																	86817581		2203	4300	6503	SO:0001583	missense	9988	0	0					g.chr7:86817581G>A	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.1375G>A	chr7.hg19:g.86817581G>A	ENSP00000378193:p.Ala459Thr	0					DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000413276.2_Intron	p.A459T	NM_021145.3	NP_066968.3	1	2	3	2.000345	Q9Y222	DMTF1_HUMAN		15	1938	+	Esophageal squamous(14;0.0058)		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	1	1	hg19	c.1375G>A	CCDS5601.1	1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253310	0.10185	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.44881	0.94;0.94;0.94;0.91	5.57	-3.61	0.04556	5.57	-3.61	0.04556	.	0.626890	0.18356	N	0.143710	T	0.17280	0.0415	N	0.03608	-0.345	0.41702	D	0.989404	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09590	T	0.72	-0.0915	16.8454	0.85979	0.3261:0.0:0.6739:0.0	.	459	Q9Y222	DMTF1_HUMAN	T	459;371;459;193	ENSP00000332171:A459T;ENSP00000412532:A371T;ENSP00000378193:A459T;ENSP00000415910:A193T	ENSP00000332171:A459T	A	+	1	0	0	DMTF1	86655517	86655517	0.995000	0.38212	0.961000	0.40146	0.950000	0.60333	0.446000	0.21694	-0.838000	0.04218	-0.345000	0.07892	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1		2	2	2	0		0	0	144		144	144	1	2.060000	-20.000000	1	0.170000	NM_021145			163	159		595	579	1		1	1		0	0	144	0		1	9.999910e-01	0	19	0	43	0	163	595
DMTF1	9988	broad.mit.edu	37	7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000394703.5	+	18	2334	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	591	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448																																						ENST00000394703.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1771-1773)Gtc>Atc		cyclin D binding myb-like transcription factor 1							163.0	136.0	145.0					7																	86823161		2203	4300	6503	SO:0001583	missense	9988	0	0					g.chr7:86823161G>A	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.1771G>A	chr7.hg19:g.86823161G>A	ENSP00000378193:p.Val591Ile	0					DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I|TMEM243_ENST00000481425.1_5'Flank	p.V591I	NM_021145.3	NP_066968.3	1	2	3	2.000345	Q9Y222	DMTF1_HUMAN		18	2334	+	Esophageal squamous(14;0.0058)		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	1	1	hg19	c.1771G>A	CCDS5601.1	1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328568	0.60743	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.58358	0.48;0.34;0.5;0.48;0.49	6.03	5.16	0.70880	6.03	5.16	0.70880	.	0.144170	0.44902	N	0.000409	T	0.40347	0.1113	L	0.27053	0.805	0.43118	D	0.994835	B	0.16603	0.018	B	0.13407	0.009	T	0.19289	-1.0310	10	0.27785	T	0.31	-0.0123	14.2613	0.66088	0.0706:0.0:0.9294:0.0	.	591	Q9Y222	DMTF1_HUMAN	I	591;521;503;591;325	ENSP00000332171:V591I;ENSP00000402627:V521I;ENSP00000412532:V503I;ENSP00000378193:V591I;ENSP00000415910:V325I	ENSP00000332171:V591I	V	+	1	0	0	DMTF1	86661097	86661097	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.060000	0.57477	1.558000	0.49541	0.655000	0.94253	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_021145			93	93		448	433	1		1	1		0	0	109	0		1	9.997464e-01	0	15	0	45	0	93	448
CROT	54677	broad.mit.edu	37	7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000331536.3	+	8	886	c.701G>T	c.(700-702)gGa>gTa	p.G234V	CROT_ENST00000419147.2_Missense_Mutation_p.G262V|CROT_ENST00000442291.1_Missense_Mutation_p.G234V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	234					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)			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)	GAACCTGATGGACCTGGGATT	0.383																																						ENST00000331536.3	1.000000	0.860000	1	9.900000e-01	0.990000	0.989577	0.990000	1.000000																										0				37						c.(700-702)gGa>gTa		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						144.0	132.0	136.0					7																	87004992		2203	4300	6503	SO:0001583	missense	54677	0	0					g.chr7:87004992G>T		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.701G>T	chr7.hg19:g.87004992G>T	ENSP00000331981:p.Gly234Val	0					CROT_ENST00000419147.2_Missense_Mutation_p.G262V|CROT_ENST00000442291.1_Missense_Mutation_p.G234V	p.G234V	NM_021151.3	NP_066974.2	1	2	3	2.000345	Q9UKG9	OCTC_HUMAN		8	886	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	1	1	hg19	c.701G>T	CCDS5604.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735886	0.89482	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90004	-2.6;-2.6;-2.6	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.046628	0.85682	D	0.000000	D	0.95642	0.8583	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.983	D	0.94444	0.7661	10	0.34782	T	0.22	-26.1183	18.7212	0.91694	0.0:0.0:1.0:0.0	.	262;234	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	262;234;234	ENSP00000413575:G262V;ENSP00000331981:G234V;ENSP00000411983:G234V	ENSP00000331981:G234V	G	+	2	0	0	CROT	86842928	86842928	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.890000	0.87313	2.865000	0.98341	0.655000	0.94253	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-13.775160	1	0.170000	NM_021151			42	42		383	376	0		1	1		0	0	92	0		1	7.617165e-01	0	2	0	25	0	42	383
CROT	54677	broad.mit.edu	37	7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000331536.3	+	11	1244	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*|CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	353					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)			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)	AAGGAAGATGGAAGGTATGTT	0.313																																						ENST00000331536.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1057-1059)tgG>tgA		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						94.0	91.0	92.0					7																	87011306		2203	4297	6500	SO:0001587	stop_gained	54677	0	0					g.chr7:87011306G>A		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.1059G>A	chr7.hg19:g.87011306G>A	ENSP00000331981:p.Trp353*	0					CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*|CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*	p.W353*	NM_021151.3	NP_066974.2	1	2	3	2.000345	Q9UKG9	OCTC_HUMAN		11	1244	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	0	1	hg19	c.1059G>A	CCDS5604.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.062868	0.97246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.8503	19.4212	0.94721	0.0:0.0:1.0:0.0	.	.	.	.	X	381;353;353	.	ENSP00000331981:W353X	W	+	3	0	0	CROT	86849242	86849242	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.160000	0.94734	2.674000	0.91012	0.467000	0.42956	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.512675	1	0.170000	NM_021151			55	55		223	220	1		1	0		0	0	32	0		1	9.983204e-01	0	1	0	41	0	55	223
ABCB4	5244	broad.mit.edu	37	7	87047935	87047935	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87047935T>C	ENST00000265723.4	-	20	2507	c.2396A>G	c.(2395-2397)gAc>gGc	p.D799G	ABCB4_ENST00000358400.3_Splice_Site_p.D799G|ABCB4_ENST00000359206.3_Splice_Site_p.D799G|ABCB4_ENST00000545634.1_Splice_Site_p.D799G|ABCB4_ENST00000453593.1_Splice_Site_p.D799G	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	799	ABC transmembrane type-1 2. {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)			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)	CCAGCTCATGTCCTATGGCAT	0.418																																						ENST00000265723.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				77						c.(2395-2397)gAc>gGc		ATP-binding cassette, sub-family B (MDR/TAP), member 4	Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)						112.0	91.0	98.0					7																	87047935		2203	4300	6503	SO:0001630	splice_region_variant	5244	0	0					g.chr7:87047935T>C	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.2395-1A>G	chr7.hg19:g.87047935T>C		0					ABCB4_ENST00000358400.3_Splice_Site_p.D799G|ABCB4_ENST00000453593.1_Splice_Site_p.D799G|ABCB4_ENST00000545634.1_Splice_Site_p.D799G|ABCB4_ENST00000359206.3_Splice_Site_p.D799G	p.D799G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	1	2	3	2.000345	P21439	MDR3_HUMAN		20	2507	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Splice_Site	SNP	ENST00000265723.4	1	0	hg19	c.2396A>G	CCDS5606.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415147	0.83449	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.58	5.58	0.84498	5.58	5.58	0.84498	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096631	0.64402	D	0.000001	D	0.92427	0.7596	H	0.94306	3.52	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.75484	0.951;0.975;0.986	D	0.94445	0.7662	10	0.87932	D	0	-19.2171	15.7496	0.77972	0.0:0.0:0.0:1.0	.	799;799;799	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	G	799	ENSP00000352135:D799G;ENSP00000351172:D799G;ENSP00000265723:D799G;ENSP00000392983:D799G;ENSP00000437465:D799G	ENSP00000265723:D799G	D	-	2	0	0	ABCB4	86885871	86885871	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.832000	0.75329	2.117000	0.64856	0.528000	0.53228	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	1	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-18.895450	1	0.170000	NM_000443	Missense_Mutation		32	31		150	149	0		1	0		0	0	45	0		1	0	0	0	0	1	0	32	150
ABCB4	5244	broad.mit.edu	37	7	87056075	87056075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T	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	685					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)			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)	CAAGTCCATCGGTTTCCACAT	0.353																																						ENST00000265723.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(2053-2055)acC>acT		ATP-binding cassette, sub-family B (MDR/TAP), member 4	Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)						95.0	94.0	94.0					7																	87056075		2202	4300	6502	SO:0001819	synonymous_variant	5244	4	121406	33				g.chr7:87056075G>A	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.2055C>T	chr7.hg19:g.87056075G>A		0					ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T	p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	1	2	3	2.000345	P21439	MDR3_HUMAN		16	2166	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	1	1	hg19	c.2055C>T	CCDS5606.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.640176	1	0.170000	NM_000443			77	75		261	253	1		1	0		0	0	53	0		1	3.240747e-01	0	0	0	5	0	77	261
ABCB1	5243	broad.mit.edu	37	7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A	rs528939709	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	646					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)			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)	ATCAATTTCACTTTTGGATTC	0.363													C|||	4	0.000798722	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0041					ENST00000265724.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(1936-1938)aGt>aTt		ATP-binding cassette, sub-family B (MDR/TAP), member 1	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)						105.0	96.0	99.0					7																	87174266		2203	4300	6503	SO:0001583	missense	5243	23	121412	43				g.chr7:87174266C>A	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.1937G>T	chr7.hg19:g.87174266C>A	ENSP00000265724:p.Ser646Ile	0					ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	p.S646I	NM_000927.4	NP_000918.2	1	2	3	2.000345	P08183	MDR1_HUMAN		17	2354	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	1	1	hg19	c.1937G>T	CCDS5608.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804349	0.31869	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.32;-2.34	5.75	1.3	0.21679	5.75	1.3	0.21679	.	2.226270	0.01211	N	0.007857	T	0.81791	0.4897	L	0.43923	1.385	0.09310	N	1	B;B	0.27068	0.053;0.167	B;B	0.21546	0.035;0.025	T	0.63712	-0.6575	10	0.38643	T	0.18	-0.0858	3.9517	0.09372	0.17:0.4676:0.0:0.3624	.	582;646	B5AK60;P08183	.;MDR1_HUMAN	I	427;646;582	ENSP00000265724:S646I;ENSP00000444095:S582I	ENSP00000265724:S646I	S	-	2	0	0	ABCB1	87012202	87012202	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.124000	0.03260	0.341000	0.23771	0.650000	0.86243	AGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_000927			51	51		247	238	1		1	0		0	0	47	0		1	9.895864e-01	0	0	0	37	0	51	247
ABCB1	5243	broad.mit.edu	37	7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	190	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)			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)	AGAACATTCCAATTTTGTCAC	0.368																																						ENST00000265724.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(568-570)atT>atG		ATP-binding cassette, sub-family B (MDR/TAP), member 1	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)						146.0	136.0	140.0					7																	87195518		2203	4300	6503	SO:0001583	missense	5243	0	0					g.chr7:87195518A>C	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.570T>G	chr7.hg19:g.87195518A>C	ENSP00000265724:p.Ile190Met	0					ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	p.I190M	NM_000927.4	NP_000918.2	1	2	3	2.000345	P08183	MDR1_HUMAN		8	987	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	1	1	hg19	c.570T>G	CCDS5608.1	1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985152	0.35036	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91068	-2.78;-2.78	5.86	-2.1	0.07210	5.86	-2.1	0.07210	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.151959	0.64402	D	0.000017	D	0.90215	0.6941	L	0.39245	1.2	0.38962	D	0.958578	B;B	0.30211	0.273;0.198	B;P	0.54499	0.356;0.754	T	0.82559	-0.0397	10	0.35671	T	0.21	-10.6385	7.6401	0.28288	0.4865:0.1195:0.3941:0.0	.	126;190	B5AK60;P08183	.;MDR1_HUMAN	M	190;126	ENSP00000265724:I190M;ENSP00000444095:I126M	ENSP00000265724:I190M	I	-	3	3	3	ABCB1	87033454	87033454	0.981000	0.34729	0.992000	0.48379	0.990000	0.78478	0.350000	0.20079	-0.349000	0.08274	-0.290000	0.09829	ATT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_000927			87	85		404	396	1		1	0		0	0	88	0		1	9.562961e-01	0	0	0	26	0	87	404
ADAM22	53616	broad.mit.edu	37	7	87780610	87780610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000265727.7	+	20	1735	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398204.4_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	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)			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)			CCAGAGATAGACAATGCAAAT	0.403																																						ENST00000265727.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1654-1656)agA>agG		ADAM metallopeptidase domain 22							127.0	120.0	122.0					7																	87780610		1896	4104	6000	SO:0001819	synonymous_variant	53616	0	0					g.chr7:87780610A>G	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.1656A>G	chr7.hg19:g.87780610A>G		0					ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398204.4_Silent_p.R552R	p.R552R			1	2	3	2.000345	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	20	1735	+	Esophageal squamous(14;0.00202)		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	1	1	hg19	c.1656A>G	CCDS47637.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_021723			62	61		284	282	1		1	0		0	0	59	0		1	9.504038e-01	0	0	0	25	0	62	284
SRI	6717	broad.mit.edu	37	7	87838718	87838718	+	Silent	SNP	G	G	A	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000419179.1_Silent_p.S109S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	149	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)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448													G|||	4	0.000798722	0.003	0.0	5008	,	,		14263	0.0		0.0	False		,,,				2504	0.0					ENST00000265729.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(445-447)agC>agT		sorcin		G	,	4,4402	8.1+/-20.4	0,4,2199	191.0	159.0	170.0		447,402	4.1	1.0	7	dbSNP_134	170	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SRI	NM_003130.2,NM_198901.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	149/199,134/184	87838718	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6717	13	121412	44				g.chr7:87838718G>A	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.447C>T	chr7.hg19:g.87838718G>A		0					SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000394641.3_Silent_p.S134S	p.S149S	NM_003130.3	NP_003121.1	1	2	3	2.000345	P30626	SORCN_HUMAN		6	499	-	Esophageal squamous(14;0.00202)		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	1	1	hg19	c.447C>T	CCDS5612.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-4.175390	1	0.170000	NM_003130			70	69		243	238	0		1	1		0	0	63	0		1	1	0	315	0	630	0	70	243
STEAP4	79689	broad.mit.edu	37	7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	205					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)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388																																						ENST00000380079.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(613-615)taT>taG		STEAP family member 4							85.0	81.0	82.0					7																	87912325		1875	4106	5981	SO:0001587	stop_gained	79689	0	0					g.chr7:87912325A>C	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.615T>G	chr7.hg19:g.87912325A>C	ENSP00000369419:p.Tyr205*	0					AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron	p.Y205*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	1	2	3	2.000345	Q687X5	STEA4_HUMAN		3	716	-	Esophageal squamous(14;0.00802)		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	0	1	hg19	c.615T>G	CCDS43611.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205892	0.79127	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	.	.	.	6.08	-2.39	0.06602	6.08	-2.39	0.06602	.	0.397244	0.30800	N	0.008860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	4.0244	0.09680	0.4369:0.1028:0.3604:0.0999	.	.	.	.	X	205	.	ENSP00000369419:Y205X	Y	-	3	2	2	STEAP4	87750261	87750261	0.001000	0.12720	0.996000	0.52242	0.971000	0.66376	0.360000	0.20250	-0.059000	0.13154	0.482000	0.46254	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_024636			63	60		303	294	1		1	0		0	0	75	0		1	8.097599e-02	0	0	0	3	0	63	303
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431							metal ion binding (GO:0046872)	p.A431A(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)			TAAAAGAAGCATGTACCCATA	0.388										HNSCC(36;0.09)																												ENST00000333190.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A431A(1)	lung(1)	144						c.(1291-1293)gcA>gcG		zinc finger protein 804B							64.0	65.0	65.0					7																	88963589		2201	4299	6500	SO:0001819	synonymous_variant	219578	0	0					g.chr7:88963589A>G	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.1293A>G	chr7.hg19:g.88963589A>G		0	HNSCC(36;0.09)					p.A431A	NM_181646.2	NP_857597.1	1	2	3	2.000345	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)	4	1902	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	1	1	hg19	c.1293A>G	CCDS5613.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_181646			69	67		290	287	1		1			0	0	55	0		1	0	0	0	0	0	0	69	290
STEAP2	261729	broad.mit.edu	37	7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000287908.3	+	5	1642	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	417					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)			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)					TGGATGGAAACGAGCTTTTGA	0.363																																						ENST00000287908.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				15						c.(1249-1251)Cga>Tga		STEAP family member 2, metalloreductase							113.0	106.0	108.0					7																	89861714		2203	4300	6503	SO:0001587	stop_gained	261729	1	121410	25				g.chr7:89861714C>T	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.1249C>T	chr7.hg19:g.89861714C>T	ENSP00000287908:p.Arg417*	0					STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394632.1_Intron	p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	1	2	3	2.000345	Q8NFT2	STEA2_HUMAN		5	1642	+	all_hematologic(106;0.112)		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	ENST00000287908.3	0	1	hg19	c.1249C>T	CCDS5615.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.249134	0.97412	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394624;ENST00000394621;ENST00000394629	.	.	.	5.77	3.79	0.43588	5.77	3.79	0.43588	.	0.059090	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0958	13.5431	0.61686	0.3917:0.6083:0.0:0.0	.	.	.	.	X	417	.	ENSP00000287908:R417X	R	+	1	2	2	STEAP2	89699650	89699650	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.770000	0.55310	1.433000	0.47394	0.644000	0.83932	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-16.098640	1	0.170000	NM_152999			28	28		142	138	1		1	1		0	0	29	0		1	9.981062e-01	0	11	0	42	0	28	142
STEAP2	261729	broad.mit.edu	37	7	89861731	89861731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000287908.3	+	5	1659	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Silent_p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	422					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)			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)					TTGAGGAAGAGTACTACAGAT	0.388																																						ENST00000287908.3	1.000000	0.340000	9.400000e-01	4.900000e-01	0.680000	0.698594	0.680000	1.000000																										0				15						c.(1264-1266)gaG>gaA		STEAP family member 2, metalloreductase							125.0	120.0	122.0					7																	89861731		2203	4300	6503	SO:0001819	synonymous_variant	261729	0	0					g.chr7:89861731G>A	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.1266G>A	chr7.hg19:g.89861731G>A		0					STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394632.1_Intron	p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	1	2	3	2.000345	Q8NFT2	STEA2_HUMAN		5	1659	+	all_hematologic(106;0.112)		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	1	1	hg19	c.1266G>A	CCDS5615.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-13.402930	1	0.170000	NM_152999			10	10		172	169	0		1	1		0	0	38	0		9.967845e-01	8.220543e-01	0	8	0	49	0	10	172
CFAP69	79846	broad.mit.edu	37	7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L|C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATACCAGGAATCTTTAAAAA	0.299																																						ENST00000389297.4	1.000000	0.740000	1	9.200000e-01	0.990000	0.968918	0.990000	1.000000																										0				37						c.(1540-1542)Atc>Ctc									68.0	67.0	67.0					7																	89915597		1787	4058	5845	SO:0001583	missense	0	0	0					g.chr7:89915597A>C																												ENST00000389297.4:c.1540A>C	chr7.hg19:g.89915597A>C	ENSP00000373948:p.Ile514Leu	0					C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L|C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L	p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	1	2	3	2.000345	A5D8W1	CG063_HUMAN		14	1791	+			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	1	1	hg19	c.1540A>C	CCDS43613.2	1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491633	0.44249	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.93	2.46	0.29980	4.93	2.46	0.29980	Armadillo-type fold (1);	0.101637	0.64402	D	0.000004	T	0.31327	0.0793	M	0.75264	2.295	0.38967	D	0.958667	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.15378	-1.0439	10	0.66056	D	0.02	-0.162	7.2354	0.26067	0.7758:0.1445:0.0797:0.0	.	496;514;514	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	L	514;514;496;397;97	ENSP00000373948:I514L;ENSP00000321753:I514L;ENSP00000419549:I496L;ENSP00000392365:I397L;ENSP00000391571:I97L	ENSP00000321753:I514L	I	+	1	0	0	C7orf63	89753533	89753533	1.000000	0.71417	0.914000	0.36105	0.990000	0.78478	3.217000	0.51184	0.329000	0.23460	0.460000	0.39030	ATC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000				24	24		231	229	0		1	0		0	0	35	0		9.999997e-01	7.919349e-02	0	0	0	5	0	24	231
GTPBP10	85865	broad.mit.edu	37	7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					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)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTA	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222511.6	1.000000	0.200000	5.700000e-01	2.900000e-01	0.400000	0.448715	0.400000	0.390000																										0				10						c.(85-87)Gga>Aga		GTP-binding protein 10 (putative)							170.0	166.0	167.0					7																	89982181		2203	4300	6503	SO:0001583	missense	85865	0	0					g.chr7:89982181G>A		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.85G>A	chr7.hg19:g.89982181G>A	ENSP00000222511:p.Gly29Arg	0		OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	p.G29R	NM_033107.3	NP_149098.2	1	2	3	2.000345	A4D1E9	GTPBA_HUMAN		2	151	+			B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	1	1	hg19	c.85G>A	CCDS5617.1	0	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592124	0.66219	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.07	5.19	0.71726	6.07	5.19	0.71726	GTP1/OBG subdomain (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	H	0.98918	4.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.92475	0.5988	9	.	.	.	-7.0466	17.414	0.87494	0.0:0.1247:0.8753:0.0	.	29;29;20;46	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	R	20;46;29;29;29	ENSP00000405697:G20R;ENSP00000389510:G46R;ENSP00000257659:G29R;ENSP00000222511:G29R;ENSP00000416596:G29R	.	G	+	1	0	0	GTPBP10	89820117	89820117	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.145000	0.94634	1.565000	0.49641	-0.283000	0.09986	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	0	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-10.507960	1	0.170000	NM_033107			10	9		296	292	0		1	1		0	0	47	0		9.966915e-01	6.338821e-01	0	2	0	61	0	10	296
CDK14	5218	broad.mit.edu	37	7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000380050.3	+	13	1299	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	CDK14_ENST00000265741.3_Missense_Mutation_p.N372D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000406263.1_Missense_Mutation_p.N344D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000380050.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1168-1170)Aac>Gac		cyclin-dependent kinase 14							134.0	142.0	139.0					7																	90741870		2203	4300	6503	SO:0001583	missense	5218	0	0					g.chr7:90741870A>G		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1168A>G	chr7.hg19:g.90741870A>G	ENSP00000369390:p.Asn390Asp	0					CDK14_ENST00000406263.1_Missense_Mutation_p.N344D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D	p.N390D			1	2	3	2.000345	O94921	CDK14_HUMAN		13	1299	+			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	1	1	hg19	c.1168A>G		1	.	.	.	.	.	.	.	.	.	.	A	9.628	1.135592	0.21123	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.97	3.61	0.41365	5.97	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057435	0.64402	D	0.000003	T	0.39989	0.1099	N	0.11724	0.165	0.39852	D	0.973252	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.001;0.007	T	0.21965	-1.0230	10	0.35671	T	0.21	-17.852	7.7303	0.28783	0.8074:0.0:0.0671:0.1255	.	261;372;390	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	D	390;372;344;261	ENSP00000369390:N390D;ENSP00000265741:N372D;ENSP00000385034:N344D;ENSP00000398936:N261D	ENSP00000265741:N372D	N	+	1	0	0	CDK14	90579806	90579806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.179000	0.65043	1.056000	0.40484	0.533000	0.62120	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_012395			178	177		743	726	1		1	0		0	0	158	0		1	9.999788e-01	0	0	0	65	0	178	743
FZD1	8321	broad.mit.edu	37	7	90895309	90895309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895309G>A	ENST00000287934.2	+	1	1527	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	372					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACATCGCCGGCTTCCTCCT	0.632																																						ENST00000287934.2	1.000000	0.320000	6.300000e-01	4.000000e-01	0.490000	0.529794	0.490000	0.480000																										0				24						c.(1114-1116)Ggc>Agc		frizzled class receptor 1							69.0	70.0	70.0					7																	90895309		2203	4300	6503	SO:0001583	missense	8321	0	0					g.chr7:90895309G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1114G>A	chr7.hg19:g.90895309G>A	ENSP00000287934:p.Gly372Ser	0						p.G372S	NM_003505.1	NP_003496.1	1	2	3	2.000345	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)	1	1527	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	1	1	hg19	c.1114G>A	CCDS5620.1	0	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524564	0.85600	.	.	ENSG00000157240	ENST00000287934	D	0.81996	-1.56	4.5	4.5	0.54988	4.5	4.5	0.54988	GPCR, family 2-like (1);	0.080290	0.48286	D	0.000199	D	0.92221	0.7533	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92864	0.6308	10	0.46703	T	0.11	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	372	Q9UP38	FZD1_HUMAN	S	372	ENSP00000287934:G372S	ENSP00000287934:G372S	G	+	1	0	0	FZD1	90733245	90733245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.729000	0.84864	2.327000	0.79052	0.407000	0.27541	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-3.273989	1	0.170000	NM_003505			23	23		536	529	0		1	0		0	0	99	0		9.999993e-01	7.554863e-01	0	0	0	65	0	23	536
FZD1	8321	broad.mit.edu	37	7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	424					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607																																						ENST00000287934.2	1.000000	0.530000	9.700000e-01	6.400000e-01	0.790000	0.798513	0.790000	1.000000																										0				24						c.(1270-1272)Tcg>Ccg		frizzled class receptor 1							85.0	81.0	83.0					7																	90895465		2203	4300	6503	SO:0001583	missense	8321	0	0					g.chr7:90895465T>C	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1270T>C	chr7.hg19:g.90895465T>C	ENSP00000287934:p.Ser424Pro	0						p.S424P	NM_003505.1	NP_003496.1	1	2	3	2.000345	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)	1	1683	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	1	1	hg19	c.1270T>C	CCDS5620.1	0	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897069	0.52121	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.46	4.46	0.54185	4.46	4.46	0.54185	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000112	D	0.90421	0.7001	M	0.87971	2.92	0.44789	D	0.997797	D	0.57257	0.979	P	0.59825	0.864	D	0.92270	0.5824	10	0.87932	D	0	.	13.8883	0.63721	0.0:0.0:0.0:1.0	.	424	Q9UP38	FZD1_HUMAN	P	424	ENSP00000287934:S424P	ENSP00000287934:S424P	S	+	1	0	0	FZD1	90733401	90733401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.925000	0.48884	1.877000	0.54381	0.334000	0.21626	TCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-7.315469	1	0.170000	NM_003505			27	27		384	379	0		1	0		0	0	61	0		1	9.058866e-01	0	1	0	59	0	27	384
FZD1	8321	broad.mit.edu	37	7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602																																						ENST00000287934.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1504-1506)gGc>gAc		frizzled class receptor 1							173.0	152.0	159.0					7																	90895700		2203	4300	6503	SO:0001583	missense	8321	0	0					g.chr7:90895700G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1505G>A	chr7.hg19:g.90895700G>A	ENSP00000287934:p.Gly502Asp	0						p.G502D	NM_003505.1	NP_003496.1	1	2	3	2.000345	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)	1	1918	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	1	1	hg19	c.1505G>A	CCDS5620.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582437	0.86748	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.79	4.79	0.61399	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	D	502	ENSP00000287934:G502D	ENSP00000287934:G502D	G	+	2	0	0	FZD1	90733636	90733636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	1		2	2	2	0		0	0	150		150	150	1	2.060000	-20.000000	1	0.170000	NM_003505			197	196		798	793	1		1	1		0	0	150	0		1	9.999997e-01	0	3	0	83	0	197	798
FZD1	8321	broad.mit.edu	37	7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	590					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647																																						ENST00000287934.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(1768-1770)gCc>gTc		frizzled class receptor 1							20.0	21.0	21.0					7																	90895964		2200	4294	6494	SO:0001583	missense	8321	0	0					g.chr7:90895964C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1769C>T	chr7.hg19:g.90895964C>T	ENSP00000287934:p.Ala590Val	0						p.A590V	NM_003505.1	NP_003496.1	1	2	3	2.000345	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)	1	2182	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	1	1	hg19	c.1769C>T	CCDS5620.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633820	0.29068	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.73	2.75	0.32379	4.73	2.75	0.32379	GPCR, family 2-like (1);	0.677726	0.12176	N	0.492570	T	0.62986	0.2473	L	0.34521	1.04	0.25896	N	0.983419	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.23891	T	0.37	.	5.3639	0.16103	0.0:0.6788:0.2083:0.1129	.	590	Q9UP38	FZD1_HUMAN	V	590	ENSP00000287934:A590V	ENSP00000287934:A590V	A	+	2	0	0	FZD1	90733900	90733900	0.400000	0.25295	0.984000	0.44739	0.993000	0.82548	0.298000	0.19120	1.312000	0.45043	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	0		2	2	2	0		0	0	47		47	40	1	2.060000	-20.000000	1	0.170000	NM_003505			48	46		260	239	1		1	1		0	0	47	0		1	9.998750e-01	0	4	0	71	0	48	260
FZD1	8321	broad.mit.edu	37	7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	611					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617																																						ENST00000287934.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1831-1833)Ctg>Atg		frizzled class receptor 1							35.0	39.0	37.0					7																	90896026		2203	4300	6503	SO:0001583	missense	8321	0	0					g.chr7:90896026C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1831C>A	chr7.hg19:g.90896026C>A	ENSP00000287934:p.Leu611Met	0						p.L611M	NM_003505.1	NP_003496.1	1	2	3	2.000345	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)	1	2244	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	1	1	hg19	c.1831C>A	CCDS5620.1	1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572397	0.45798	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.91	4.03	0.46877	4.91	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000100	D	0.85026	0.5603	L	0.56199	1.76	0.46222	D	0.998932	P	0.40638	0.725	P	0.48738	0.588	T	0.81125	-0.1075	10	0.30854	T	0.27	.	4.55	0.12107	0.0:0.716:0.0:0.284	.	611	Q9UP38	FZD1_HUMAN	M	611	ENSP00000287934:L611M	ENSP00000287934:L611M	L	+	1	2	2	FZD1	90733962	90733962	0.703000	0.27826	0.994000	0.49952	0.899000	0.52679	0.771000	0.26633	2.709000	0.92574	0.655000	0.94253	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	0		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_003505			68	67		297	295	1		1	1		0	0	64	0		1	9.994375e-01	0	5	0	46	0	68	297
AKAP9	10142	broad.mit.edu	37	7	91622256	91622256	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91622256A>C	ENST00000359028.2	+	6	724	c.499A>C	c.(499-501)Act>Cct	p.T167P	AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	167					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)			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)			AGACAGTCCGACTCATCTAGA	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.150000	5.100000e-01	2.300000e-01	0.340000	0.392058	0.340000	0.320000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(499-501)Act>Cct		A kinase (PRKA) anchor protein 9							116.0	113.0	114.0					7																	91622256		2203	4300	6503	SO:0001583	missense	10142	0	0					g.chr7:91622256A>C	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.499A>C	chr7.hg19:g.91622256A>C	ENSP00000351922:p.Thr167Pro	0					AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P	p.T167P			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	6	724	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	0	1	hg19	c.499A>C		0	.	.	.	.	.	.	.	.	.	.	A	8.005	0.756176	0.15846	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.37	4.22	0.49857	5.37	4.22	0.49857	.	0.000000	0.41500	D	0.000868	T	0.45013	0.1321	L	0.34521	1.04	0.31554	N	0.658346	B;B;D;B	0.76494	0.004;0.003;0.999;0.006	B;B;D;B	0.71656	0.004;0.004;0.974;0.009	T	0.49418	-0.8942	10	0.49607	T	0.09	.	10.8963	0.47025	0.9259:0.0:0.0741:0.0	.	155;155;167;155	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	P	155;167;167;167;167;155;106	ENSP00000348573:T155P;ENSP00000351922:T167P;ENSP00000350813:T167P;ENSP00000378065:T155P;ENSP00000391704:T106P	ENSP00000348573:T155P	T	+	1	0	0	AKAP9	91460192	91460192	0.043000	0.20138	0.969000	0.41365	0.293000	0.27360	2.255000	0.43222	2.147000	0.66899	0.533000	0.62120	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	39		39	40	1	2.060000	-3.602344	1	0.170000	NM_005751			7	7		252	243	0		1	0		0	0	39	0		9.784452e-01	1.187914e-01	0	0	0	19	0	7	252
AKAP9	10142	broad.mit.edu	37	7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000359028.2	+	9	2401	c.2176T>A	c.(2176-2178)Tca>Aca	p.S726T	AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T|AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	726	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)			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)			AAATTCAAAGTCAGAAGAAAT	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(2176-2178)Tca>Aca		A kinase (PRKA) anchor protein 9							20.0	22.0	21.0					7																	91631371		2007	4204	6211	SO:0001583	missense	10142	0	0					g.chr7:91631371T>A	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.2176T>A	chr7.hg19:g.91631371T>A	ENSP00000351922:p.Ser726Thr	0					AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T	p.S726T			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	9	2401	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	1	1	hg19	c.2176T>A		1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809990	0.31961	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.39	0.52855	5.62	4.39	0.52855	.	0.000000	0.35151	N	0.003401	T	0.51261	0.1664	L	0.27053	0.805	0.39583	D	0.969461	P;P;D;P	0.69078	0.63;0.862;0.997;0.952	B;P;D;P	0.66196	0.365;0.646;0.942;0.699	T	0.49799	-0.8901	10	0.33940	T	0.23	.	12.6987	0.57018	0.0:0.0:0.1373:0.8627	.	726;714;714;726	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	714;726;726;726;726	ENSP00000348573:S714T;ENSP00000351922:S726T;ENSP00000350813:S726T	ENSP00000348573:S714T	S	+	1	0	0	AKAP9	91469307	91469307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	2.276000	0.75962	0.529000	0.55759	TCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_005751			31	31		133	130	1		1	1		0	0	43	0		1	7.715572e-01	0	3	0	11	0	31	133
AKAP9	10142	broad.mit.edu	37	7	91631643	91631643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000359028.2	+	9	2673	c.2448T>C	c.(2446-2448)atT>atC	p.I816I	AKAP9_ENST00000358100.2_Silent_p.I816I|AKAP9_ENST00000356239.3_Silent_p.I804I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	816	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)			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)			AAAGATTGATTTTCTTAGACT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(2446-2448)atT>atC		A kinase (PRKA) anchor protein 9							70.0	77.0	74.0					7																	91631643		2203	4296	6499	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91631643T>C	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.2448T>C	chr7.hg19:g.91631643T>C		0					AKAP9_ENST00000356239.3_Silent_p.I804I|AKAP9_ENST00000358100.2_Silent_p.I816I	p.I816I			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	9	2673	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.2448T>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_005751			87	85		359	351	1		1	1		0	0	122	0		1	9.803377e-01	0	5	0	23	0	87	359
AKAP9	10142	broad.mit.edu	37	7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000359028.2	+	9	3049	c.2824A>T	c.(2824-2826)Atg>Ttg	p.M942L	AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L|AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	942	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)			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)			AACATTGGAAATGGGTGAGGT	0.363			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(2824-2826)Atg>Ttg		A kinase (PRKA) anchor protein 9							46.0	47.0	46.0					7																	91632019		2202	4299	6501	SO:0001583	missense	10142	0	0					g.chr7:91632019A>T	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.2824A>T	chr7.hg19:g.91632019A>T	ENSP00000351922:p.Met942Leu	0					AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L	p.M942L			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	9	3049	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	1	1	hg19	c.2824A>T		1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02737	4.18;4.18;4.18	5.28	-3.65	0.04502	5.28	-3.65	0.04502	.	1.558810	0.04096	N	0.312104	T	0.01730	0.0055	N	0.08118	0	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	0.47911	-0.9080	10	0.27082	T	0.32	.	6.3967	0.21616	0.2917:0.3727:0.3355:0.0	.	942;930;930;942	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	930;942;942;942;942	ENSP00000348573:M930L;ENSP00000351922:M942L;ENSP00000350813:M942L	ENSP00000348573:M930L	M	+	1	0	0	AKAP9	91469955	91469955	0.003000	0.15002	0.016000	0.15963	0.096000	0.18686	0.153000	0.16323	-0.530000	0.06349	-0.264000	0.10439	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_005751			52	52		233	227	1		1	1		0	0	44	0		1	9.887359e-01	0	6	0	28	0	52	233
AKAP9	10142	broad.mit.edu	37	7	91643633	91643633	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000359028.2	+	11	3864	c.3639T>C	c.(3637-3639)taT>taC	p.Y1213Y	AKAP9_ENST00000358100.2_Silent_p.Y1213Y|AKAP9_ENST00000356239.3_Silent_p.Y1201Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1213					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)			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)			AATGTTCTTATTTTTTACAGG	0.373			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(3637-3639)taT>taC		A kinase (PRKA) anchor protein 9							87.0	88.0	88.0					7																	91643633		2203	4300	6503	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91643633T>C	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.3639T>C	chr7.hg19:g.91643633T>C		0					AKAP9_ENST00000356239.3_Silent_p.Y1201Y|AKAP9_ENST00000358100.2_Silent_p.Y1213Y	p.Y1213Y			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	11	3864	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.3639T>C		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-19.415360	1	0.170000	NM_005751			29	27		108	101	1		1	1		0	0	25	0		1	9.976929e-01	0	15	0	24	0	29	108
AKAP9	10142	broad.mit.edu	37	7	91660882	91660882	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000359028.2	+	17	4563	c.4338A>G	c.(4336-4338)aaA>aaG	p.K1446K	AKAP9_ENST00000358100.2_Silent_p.K1446K|AKAP9_ENST00000356239.3_Silent_p.K1434K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1446					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.K1434K(1)|p.K1446K(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)			TGCTTGAAAAACAATACCAAG	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.K1434K(1)|p.K1446K(1)	kidney(2)	155						c.(4336-4338)aaA>aaG		A kinase (PRKA) anchor protein 9							128.0	135.0	132.0					7																	91660882		2202	4294	6496	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91660882A>G	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.4338A>G	chr7.hg19:g.91660882A>G		0					AKAP9_ENST00000356239.3_Silent_p.K1434K|AKAP9_ENST00000358100.2_Silent_p.K1446K	p.K1446K			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	17	4563	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.4338A>G		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_005751			57	56		241	233	0		1	1		0	0	73	0		1	9.969740e-01	0	9	0	31	0	57	241
AKAP9	10142	broad.mit.edu	37	7	91668085	91668085	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4727C>A	c.(4726-4728)tCt>tAt	p.S1576Y	AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y|AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1576					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)			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)			GTTAGACAGTCTGTAAGTATG	0.313			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.390000	8.900000e-01	5.200000e-01	0.670000	0.698449	0.670000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(4726-4728)tCt>tAt		A kinase (PRKA) anchor protein 9							32.0	37.0	35.0					7																	91668085		2190	4286	6476	SO:0001630	splice_region_variant	10142	0	0					g.chr7:91668085C>A	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.4728+1C>A	chr7.hg19:g.91668085C>A		0					AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y|AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y	p.S1576Y			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	18	4952	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	0	1	hg19	c.4727C>A		0	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518409	0.27211	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03524	3.9;3.9;3.9	5.1	2.12	0.27331	5.1	2.12	0.27331	.	0.710293	0.11825	N	0.525801	T	0.05456	0.0144	L	0.57536	1.79	0.09310	N	0.999994	P;P;P;P	0.46220	0.8;0.874;0.874;0.631	B;B;B;B	0.41894	0.143;0.277;0.369;0.246	T	0.34079	-0.9843	10	0.66056	D	0.02	.	6.6724	0.23076	0.1424:0.7018:0.0:0.1558	.	1576;1564;1564;1576	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Y	1564;1576;1576;1576;1576	ENSP00000348573:S1564Y;ENSP00000351922:S1576Y;ENSP00000350813:S1576Y	ENSP00000348573:S1564Y	S	+	2	0	0	AKAP9	91506021	91506021	0.008000	0.16893	0.918000	0.36340	0.705000	0.40729	0.267000	0.18552	0.645000	0.30675	0.591000	0.81541	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-17.668300	1	0.170000	NM_005751	Missense_Mutation		15	15		255	248	0		1	1		0	0	34	0		9.998589e-01	5.553512e-01	0	3	0	29	0	15	255
AKAP9	10142	broad.mit.edu	37	7	91690610	91690610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	ENST00000359028.2	+	24	5899	c.5674C>T	c.(5674-5676)Cgt>Tgt	p.R1892C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1892	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)			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)			AGAGTTGATGCGTGAGTCATT	0.428			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.150000	4.300000e-01	2.200000e-01	0.300000	0.352576	0.300000	0.290000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(5674-5676)Cgt>Tgt		A kinase (PRKA) anchor protein 9							91.0	89.0	90.0					7																	91690610		2203	4300	6503	SO:0001583	missense	10142	4	121412	39				g.chr7:91690610C>T	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.5674C>T	chr7.hg19:g.91690610C>T	ENSP00000351922:p.Arg1892Cys	0					AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000491695.1_3'UTR	p.R1892C			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	24	5899	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	0	1	hg19	c.5674C>T		0	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067357	0.76301	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03920	3.77;3.77;3.76	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001172	T	0.23014	0.0556	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66847	0.886;0.947;0.947	T	0.00040	-1.2237	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1892;1880;1880	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1880;1892;1892;1892;95	ENSP00000348573:R1880C;ENSP00000351922:R1892C;ENSP00000350813:R1892C	ENSP00000265737:R95C	R	+	1	0	0	AKAP9	91528546	91528546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.840000	0.97914	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.071859	1	0.170000	NM_005751			11	11		434	426	0		1	0		0	0	71	0		9.982028e-01	3.554611e-01	0	1	0	46	0	11	434
AKAP9	10142	broad.mit.edu	37	7	91699387	91699387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91699387G>A	ENST00000359028.2	+	28	6635	c.6410G>A	c.(6409-6411)tGc>tAc	p.C2137Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2137	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)			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)			ACAGACAAATGCAGTGAGCTT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.280000	5.300000e-01	3.500000e-01	0.430000	0.466097	0.430000	0.420000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(6409-6411)tGc>tAc		A kinase (PRKA) anchor protein 9							97.0	110.0	106.0					7																	91699387		2203	4300	6503	SO:0001583	missense	10142	0	0					g.chr7:91699387G>A	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.6410G>A	chr7.hg19:g.91699387G>A	ENSP00000351922:p.Cys2137Tyr	0					AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y	p.C2137Y			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	28	6635	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	1	1	hg19	c.6410G>A		0	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284671	0.59867	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03468	3.93;3.93;3.92	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.43416	D	0.000566	T	0.13798	0.0334	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.986;0.991;0.999	T	0.14504	-1.0470	10	0.05351	T	0.99	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	2137;2125;2125	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	2125;2137;2137;2137	ENSP00000348573:C2125Y;ENSP00000351922:C2137Y;ENSP00000350813:C2137Y	ENSP00000348573:C2125Y	C	+	2	0	0	AKAP9	91537323	91537323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.749000	0.91619	2.650000	0.89964	0.557000	0.71058	TGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-3.794014	1	0.170000	NM_005751			28	27		755	745	0		1	1		0	0	145	0		1	6.695619e-01	0	3	0	60	0	28	755
AKAP9	10142	broad.mit.edu	37	7	91709392	91709392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000359028.2	+	32	8206	c.7981C>T	c.(7981-7983)Cta>Tta	p.L2661L	AKAP9_ENST00000358100.2_Silent_p.L2661L|AKAP9_ENST00000356239.3_Silent_p.L2649L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2661	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)			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)			ACTACAGAAGCTATTGGAGGG	0.308			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(7981-7983)Cta>Tta		A kinase (PRKA) anchor protein 9							20.0	22.0	22.0					7																	91709392		2090	4242	6332	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91709392C>T	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.7981C>T	chr7.hg19:g.91709392C>T		0					AKAP9_ENST00000356239.3_Silent_p.L2649L|AKAP9_ENST00000358100.2_Silent_p.L2661L	p.L2661L			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	32	8206	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.7981C>T		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_005751			45	42		146	140	1		1	1		0	0	37	0		1	1	0	22	0	82	0	45	146
AKAP9	10142	broad.mit.edu	37	7	91714146	91714146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000359028.2	+	35	8961	c.8736C>T	c.(8734-8736)gaC>gaT	p.D2912D	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.D2908D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2912					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)			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)			CTGGATCAGACTGGGGTCAGG	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(8734-8736)gaC>gaT		A kinase (PRKA) anchor protein 9							98.0	102.0	100.0					7																	91714146		2203	4300	6503	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91714146C>T	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.8736C>T	chr7.hg19:g.91714146C>T		0					AKAP9_ENST00000356239.3_Silent_p.D2908D|AKAP9_ENST00000358100.2_Intron	p.D2912D			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	35	8961	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.8736C>T		1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665143	0.14710	.	.	ENSG00000127914	ENST00000435423	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	.	13.363	0.60667	0.0:0.9237:0.0:0.0763	.	.	.	.	I	53	.	.	T	+	2	0	0	AKAP9	91552082	91552082	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.841000	0.39240	2.577000	0.86979	0.561000	0.74099	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-20.000000	1	0.170000	NM_005751			130	124		605	593	1		1	1		0	0	122	0		1	9.998590e-01	0	9	0	52	0	130	605
AKAP9	10142	broad.mit.edu	37	7	91735055	91735055	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000359028.2	+	47	11631	c.11406A>G	c.(11404-11406)agA>agG	p.R3802R	AKAP9_ENST00000358100.2_Silent_p.R3748R|AKAP9_ENST00000356239.3_Silent_p.R3798R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					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)			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)			ATATTAACAGAGATGGCTTTG	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996883	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(11404-11406)agA>agG		A kinase (PRKA) anchor protein 9							136.0	135.0	135.0					7																	91735055		2203	4300	6503	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91735055A>G	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.11406A>G	chr7.hg19:g.91735055A>G		0					AKAP9_ENST00000356239.3_Silent_p.R3798R|AKAP9_ENST00000358100.2_Silent_p.R3748R	p.R3802R			1	2	3	2.000345	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	47	11631	+	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)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.11406A>G		1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-16.928400	1	0.170000	NM_005751			48	48		405	398	1		1	1		0	0	68	0		1	9.999103e-01	0	13	0	104	0	48	405
KRIT1	889	broad.mit.edu	37	7	91863867	91863867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000340022.2	-	10	1903	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000394507.1_Silent_p.S295S|KRIT1_ENST00000412043.2_Silent_p.S295S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	295					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383																																						ENST00000340022.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(883-885)agC>agT		KRIT1, ankyrin repeat containing							70.0	73.0	72.0					7																	91863867		2203	4300	6503	SO:0001819	synonymous_variant	889	2	121412	34				g.chr7:91863867G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.885C>T	chr7.hg19:g.91863867G>A		0					KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394507.1_Silent_p.S295S	p.S295S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	1	2	3	2.000345	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	10	1903	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	1	1	hg19	c.885C>T	CCDS5624.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000				69	65		274	271	1		1	1		0	0	65	0		1	1	0	27	0	84	0	69	274
KRIT1	889	broad.mit.edu	37	7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000340022.2	-	5	1211	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353																																						ENST00000340022.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(193-195)Aca>Gca		KRIT1, ankyrin repeat containing							215.0	192.0	200.0					7																	91870376		2203	4300	6503	SO:0001583	missense	889	0	0					g.chr7:91870376T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.193A>G	chr7.hg19:g.91870376T>C	ENSP00000344668:p.Thr65Ala	0					KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A	p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	1	2	3	2.000345	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	5	1211	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	1	1	hg19	c.193A>G	CCDS5624.1	1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724442	0.30593	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493	T;T;T;T;T;D;D;D	0.85702	1.05;1.05;1.05;1.05;-0.49;-2.02;-1.61;-1.61	6.08	2.23	0.28157	6.08	2.23	0.28157	.	0.224065	0.45867	N	0.000337	T	0.61540	0.2355	N	0.04508	-0.205	0.33513	D	0.591426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52756	-0.8533	10	0.15499	T	0.54	.	3.9012	0.09162	0.2657:0.1413:0.0:0.593	.	65;65	A6NNU0;O00522	.;KRIT1_HUMAN	A	65	ENSP00000378015:T65A;ENSP00000344668:T65A;ENSP00000410909:T65A;ENSP00000378013:T65A;ENSP00000378011:T65A;ENSP00000391675:T65A;ENSP00000410104:T65A;ENSP00000405835:T65A	ENSP00000344668:T65A	T	-	1	0	0	KRIT1	91708312	91708312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.893000	0.39758	0.533000	0.28675	-0.336000	0.08194	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000				84	82		291	287	1		1	1		0	0	69	0		1	9.999977e-01	0	14	0	54	0	84	291
ANKIB1	54467	broad.mit.edu	37	7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	907							zinc ion binding (GO:0008270)	p.R907W(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)			AGATAGCCCTCGGGCTGCATT	0.493																																						ENST00000265742.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										1	Substitution - Missense(1)	p.R907W(1)	endometrium(1)	41						c.(2719-2721)Cgg>Tgg		ankyrin repeat and IBR domain containing 1							59.0	57.0	58.0					7																	92027712		1883	4128	6011	SO:0001583	missense	54467	0	0					g.chr7:92027712C>T	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.2719C>T	chr7.hg19:g.92027712C>T	ENSP00000265742:p.Arg907Trp	0						p.R907W	NM_019004.1	NP_061877.1	1	2	3	2.000345	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	20	3095	+	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)		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	1	1	hg19	c.2719C>T	CCDS47639.1	1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363394	0.61513	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.87	2.99	0.34606	5.87	2.99	0.34606	.	0.160491	0.53938	D	0.000048	T	0.22627	0.0546	L	0.34521	1.04	0.48185	D	0.999608	D;D	0.89917	1.0;0.984	D;P	0.66602	0.945;0.482	T	0.00581	-1.1660	10	0.87932	D	0	.	10.8133	0.46559	0.5232:0.3716:0.1052:0.0	.	259;907	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	W	907	ENSP00000265742:R907W	ENSP00000265742:R907W	R	+	1	2	2	ANKIB1	91865648	91865648	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	1.756000	0.38390	0.425000	0.26087	-0.181000	0.13052	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000				25	25		105	103	1		1	1		0	0	21	0		9.999999e-01	9.999667e-01	0	20	0	55	0	25	105
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							zinc ion binding (GO:0008270)			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)			CAGAGTATTGCCCTGATTCCT	0.498																																						ENST00000265742.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2956-2958)gCc>gAc		ankyrin repeat and IBR domain containing 1							102.0	99.0	100.0					7																	92027950		1980	4167	6147	SO:0001583	missense	54467	0	0					g.chr7:92027950C>A	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.2957C>A	chr7.hg19:g.92027950C>A	ENSP00000265742:p.Ala986Asp	0						p.A986D	NM_019004.1	NP_061877.1	1	2	3	2.000345	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	20	3333	+	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)		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	1	1	hg19	c.2957C>A	CCDS47639.1	1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388527	0.61956	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.35	4.47	0.54385	5.35	4.47	0.54385	.	0.165804	0.56097	D	0.000036	T	0.19765	0.0475	L	0.29908	0.895	0.58432	D	0.999996	D;B	0.67145	0.996;0.177	P;B	0.54759	0.76;0.1	T	0.01675	-1.1298	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	D	986	ENSP00000265742:A986D	ENSP00000265742:A986D	A	+	2	0	0	ANKIB1	91865886	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				96	94		387	376	1		1	1		0	0	91	0		1	1	0	31	0	103	0	96	387
PEX1	5189	broad.mit.edu	37	7	92119135	92119135	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000248633.4	-	22	3624	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	PEX1_ENST00000438045.1_Silent_p.L855L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000428214.1_Silent_p.L1120L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1177					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)			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)			GCTGTCCTTAACACTGGAGGC	0.473																																						ENST00000248633.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3529-3531)Tta>Cta		peroxisomal biogenesis factor 1							135.0	116.0	123.0					7																	92119135		2203	4300	6503	SO:0001819	synonymous_variant	5189	0	0					g.chr7:92119135A>G	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.3529T>C	chr7.hg19:g.92119135A>G		0					PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000428214.1_Silent_p.L1120L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	p.L1177L	NM_000466.2	NP_000457.1	1	2	3	2.000345	O43933	PEX1_HUMAN	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)	22	3624	-	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)	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	1	1	hg19	c.3529T>C	CCDS5627.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_000466			70	69		232	227	0		1	1		0	0	42	0		1	9.999930e-01	0	36	0	24	0	70	232
PEX1	5189	broad.mit.edu	37	7	92122335	92122335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000248633.4	-	20	3234	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	PEX1_ENST00000438045.1_Silent_p.L725L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000428214.1_Silent_p.L990L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1047					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)			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)			AAAGCTTTCAGATCAGCTCCA	0.423																																						ENST00000248633.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3139-3141)Ctg>Ttg		peroxisomal biogenesis factor 1							137.0	132.0	134.0					7																	92122335		2203	4300	6503	SO:0001819	synonymous_variant	5189	0	0					g.chr7:92122335G>A	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.3139C>T	chr7.hg19:g.92122335G>A		0					PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	p.L1047L	NM_000466.2	NP_000457.1	1	2	3	2.000345	O43933	PEX1_HUMAN	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)	20	3234	-	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)	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	1	1	hg19	c.3139C>T	CCDS5627.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1		2	2	2	0		0	0	124		124	123	1	2.060000	-20.000000	1	0.170000	NM_000466			124	122		418	414	1		1	0		0	0	124	0		1	9.994790e-01	0	1	0	39	0	124	418
PEX1	5189	broad.mit.edu	37	7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000248633.4	-	11	1935	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	614					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)			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)			AATGCTTCTTTACAGATTGCT	0.353																																						ENST00000248633.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1840-1842)Aaa>Gaa		peroxisomal biogenesis factor 1							160.0	152.0	155.0					7																	92135622		2203	4300	6503	SO:0001583	missense	5189	0	0					g.chr7:92135622T>C	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.1840A>G	chr7.hg19:g.92135622T>C	ENSP00000248633:p.Lys614Glu	0					PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E	p.K614E	NM_000466.2	NP_000457.1	1	2	3	2.000345	O43933	PEX1_HUMAN	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)	11	1935	-	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)	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	1	1	hg19	c.1840A>G	CCDS5627.1	1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900065	0.52227	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751;ENST00000545192	D;D;T;D	0.93076	-3.16;-3.16;2.25;-3.16	5.2	2.75	0.32379	5.2	2.75	0.32379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.326457	0.36338	N	0.002645	D	0.89952	0.6864	L	0.38175	1.15	0.35821	D	0.824617	P;P;P	0.41366	0.698;0.698;0.747	B;B;B	0.43386	0.338;0.341;0.418	D	0.89190	0.3550	10	0.48119	T	0.1	-8.6891	11.8096	0.52175	0.0:0.0:0.3037:0.6963	.	292;406;614	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	E	292;614;614;31;614	ENSP00000410438:K292E;ENSP00000248633:K614E;ENSP00000394413:K614E;ENSP00000438637:K31E	ENSP00000248633:K614E	K	-	1	0	0	PEX1	91973558	91973558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.065000	0.49994	0.278000	0.22164	0.454000	0.30748	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000	NM_000466			119	118		400	398	1		1	1		0	0	121	0		1	9.984526e-01	0	5	0	30	0	119	400
PEX1	5189	broad.mit.edu	37	7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000248633.4	-	9	1728	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	545					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)			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)			AGAATAAAGTCAATTTCCTCA	0.343																																						ENST00000248633.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1633-1635)Gac>Aac		peroxisomal biogenesis factor 1							69.0	71.0	70.0					7																	92138680		2203	4297	6500	SO:0001583	missense	5189	0	0					g.chr7:92138680C>T	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.1633G>A	chr7.hg19:g.92138680C>T	ENSP00000248633:p.Asp545Asn	0					PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N|PEX1_ENST00000541751.1_Intron	p.D545N	NM_000466.2	NP_000457.1	1	2	3	2.000345	O43933	PEX1_HUMAN	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)	9	1728	-	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)	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	1	1	hg19	c.1633G>A	CCDS5627.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241212	0.79912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95412	-3.51;-3.54;-3.7	5.95	4.89	0.63831	5.95	4.89	0.63831	.	0.499086	0.24238	N	0.040300	D	0.94712	0.8294	L	0.55481	1.735	0.80722	D	1	B;D;D	0.59767	0.139;0.986;0.986	B;P;P	0.50970	0.045;0.655;0.655	D	0.92607	0.6096	10	0.30078	T	0.28	-18.6954	12.974	0.58527	0.0:0.911:0.0:0.089	.	223;337;545	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	223;545;545;545	ENSP00000410438:D223N;ENSP00000248633:D545N;ENSP00000394413:D545N	ENSP00000248633:D545N	D	-	1	0	0	PEX1	91976616	91976616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.529000	0.45632	2.826000	0.97356	0.491000	0.48974	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_000466			43	42		175	170	1		1	0		0	0	39	0		1	9.663557e-01	0	0	0	25	0	43	175
SAMD9	54809	broad.mit.edu	37	7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A	rs375396225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1533						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			TTTTCAGCTCGACCTTGTAAA	0.383																																						ENST00000379958.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.996818	0.990000	1.000000																										0				88						c.(4597-4599)Cga>Tga		sterile alpha motif domain containing 9							78.0	81.0	80.0					7																	92730814		2203	4300	6503	SO:0001587	stop_gained	54809	0	0					g.chr7:92730814G>A	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.4597C>T	chr7.hg19:g.92730814G>A	ENSP00000369292:p.Arg1533*	0						p.R1533*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	4866	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	0	1	hg19	c.4597C>T	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.085803	0.99333	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.34	2.34	0.29019	4.34	2.34	0.29019	.	0.399395	0.20515	U	0.090804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3242	0.43783	0.0:0.0:0.4711:0.5289	.	.	.	.	X	1533	.	ENSP00000369292:R1533X	R	-	1	2	2	SAMD9	92568750	92568750	0.003000	0.15002	0.750000	0.31169	0.630000	0.37929	1.478000	0.35442	1.173000	0.42796	0.609000	0.83330	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-14.625820	1	0.170000	NM_017654			38	38		308	305	1		1	1		0	0	50	0		1	9.999951e-01	0	19	0	133	0	38	308
SAMD9	54809	broad.mit.edu	37	7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	978						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			TACTCCACAGTAGTTCCCACA	0.393																																						ENST00000379958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2932-2934)tAc>tGc		sterile alpha motif domain containing 9							128.0	124.0	126.0					7																	92732478		2203	4300	6503	SO:0001583	missense	54809	0	0					g.chr7:92732478T>C	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.2933A>G	chr7.hg19:g.92732478T>C	ENSP00000369292:p.Tyr978Cys	0						p.Y978C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	3202	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	1	hg19	c.2933A>G	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471728	0.04445	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.437147	0.20801	N	0.085438	T	0.15609	0.0376	L	0.31752	0.955	0.23876	N	0.996594	P	0.43885	0.82	B	0.34652	0.187	T	0.17992	-1.0351	10	0.52906	T	0.07	-4.8748	8.1729	0.31264	0.0:0.0903:0.0:0.9097	.	978	Q5K651	SAMD9_HUMAN	C	978	ENSP00000369292:Y978C;ENSP00000414529:Y978C	ENSP00000369292:Y978C	Y	-	2	0	0	SAMD9	92570414	92570414	1.000000	0.71417	0.179000	0.23059	0.248000	0.25809	3.567000	0.53813	2.059000	0.61396	0.496000	0.49642	TAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_017654			103	103		373	368	1		1	1		0	0	97	0		1	9.999992e-01	0	25	0	50	0	103	373
SAMD9	54809	broad.mit.edu	37	7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			TTTTCATATCGAATGTACTTT	0.353																																						ENST00000379958.2	1.000000	0.240000	5.600000e-01	3.200000e-01	0.420000	0.463614	0.420000	0.410000																										0				88						c.(2470-2472)Cga>Tga		sterile alpha motif domain containing 9							67.0	68.0	68.0					7																	92732941		2203	4298	6501	SO:0001587	stop_gained	54809	0	0					g.chr7:92732941G>A	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.2470C>T	chr7.hg19:g.92732941G>A	ENSP00000369292:p.Arg824*	0						p.R824*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	2739	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	0	1	hg19	c.2470C>T	CCDS34680.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.494928	0.97612	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	2.51	0.30379	4.44	2.51	0.30379	.	0.257740	0.23690	U	0.045527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7059	0.28650	0.0:0.161:0.5076:0.3314	.	.	.	.	X	824	.	ENSP00000369292:R824X	R	-	1	2	2	SAMD9	92570877	92570877	0.000000	0.05858	0.937000	0.37676	0.932000	0.56968	0.105000	0.15333	0.429000	0.26202	0.609000	0.83330	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	0	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-3.424112	1	0.170000	NM_017654			16	16		443	436	0		1	1		0	0	81	0		9.999269e-01	7.575064e-01	0	3	0	74	0	16	443
SAMD9	54809	broad.mit.edu	37	7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	271						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			GTCTTCAAAATACTTGTTTAT	0.388																																						ENST00000379958.2	1.000000	0.810000	1	9.400000e-01	0.990000	0.978656	0.990000	1.000000																										0				88						c.(811-813)tAt>tGt		sterile alpha motif domain containing 9							151.0	148.0	149.0					7																	92734599		2203	4300	6503	SO:0001583	missense	54809	0	0					g.chr7:92734599T>C	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.812A>G	chr7.hg19:g.92734599T>C	ENSP00000369292:p.Tyr271Cys	0						p.Y271C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	1081	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	1	hg19	c.812A>G	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204867	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.000000	0.56097	U	0.000039	T	0.34600	0.0903	L	0.54323	1.7	0.34310	D	0.68537	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.44086	T	0.13	-9.2377	12.7423	0.57259	0.0:0.0:0.0:1.0	.	271	Q5K651	SAMD9_HUMAN	C	271	ENSP00000369292:Y271C;ENSP00000414529:Y271C	ENSP00000369292:Y271C	Y	-	2	0	0	SAMD9	92572535	92572535	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.483000	0.53194	1.948000	0.56530	0.491000	0.48974	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_017654			46	45		454	448	1		1	1		0	0	96	0		1	9.964573e-01	0	9	0	76	0	46	454
SAMD9	54809	broad.mit.edu	37	7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			CCTGTTTCAGGCTGTAGACTA	0.388																																						ENST00000379958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(547-549)Cct>Tct		sterile alpha motif domain containing 9							149.0	139.0	142.0					7																	92734864		2203	4300	6503	SO:0001583	missense	54809	0	0					g.chr7:92734864G>A	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.547C>T	chr7.hg19:g.92734864G>A	ENSP00000369292:p.Pro183Ser	0						p.P183S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	816	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	1	hg19	c.547C>T	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902058	0.33628	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15139	2.45;2.45	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.076196	0.52532	D	0.000067	T	0.23572	0.0570	L	0.55990	1.75	0.27564	N	0.950106	P	0.47841	0.901	P	0.44696	0.458	T	0.08146	-1.0736	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	183	Q5K651	SAMD9_HUMAN	S	183	ENSP00000369292:P183S;ENSP00000414529:P183S	ENSP00000369292:P183S	P	-	1	0	0	SAMD9	92572800	92572800	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	6.510000	0.73729	2.613000	0.88420	0.603000	0.83216	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	0		2	3	2	1		1	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_017654			167	165		511	502	1		1	1		1	0	131	0		1	9.999386e-01	0	4	0	50	0	167	511
SAMD9	54809	broad.mit.edu	37	7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	171						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			ACGATATGGATTACTGAATTC	0.363																																						ENST00000379958.2	1.000000	0.790000	1	9.000000e-01	0.990000	0.967853	0.990000	1.000000																										0				88						c.(511-513)aAt>aTt		sterile alpha motif domain containing 9							145.0	143.0	144.0					7																	92734899		2203	4300	6503	SO:0001583	missense	54809	0	0					g.chr7:92734899T>A	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.512A>T	chr7.hg19:g.92734899T>A	ENSP00000369292:p.Asn171Ile	0						p.N171I	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	781	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	1	hg19	c.512A>T	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663551	0.29515	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14391	2.51;2.51	4.7	3.53	0.40419	4.7	3.53	0.40419	.	0.485095	0.17700	N	0.164974	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.25882	-1.0119	10	0.72032	D	0.01	.	4.973	0.14125	0.1622:0.089:0.0:0.7488	.	171	Q5K651	SAMD9_HUMAN	I	171	ENSP00000369292:N171I;ENSP00000414529:N171I	ENSP00000369292:N171I	N	-	2	0	0	SAMD9	92572835	92572835	0.002000	0.14202	0.020000	0.16555	0.966000	0.64601	0.554000	0.23407	0.934000	0.37316	0.491000	0.48974	AAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	0		2	2	2	0		0	0	115		115	115	1	2.060000	-20.000000	1	0.170000	NM_017654			52	52		541	534	1		1	1		0	0	115	0		1	9.751373e-01	0	10	0	53	0	52	541
SAMD9	54809	broad.mit.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			TGAATCGAATCTTCAATGGCT	0.373																																						ENST00000379958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(241-243)Gat>Aat		sterile alpha motif domain containing 9							162.0	160.0	161.0					7																	92735170		2203	4300	6503	SO:0001583	missense	54809	0	0					g.chr7:92735170C>T	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.241G>A	chr7.hg19:g.92735170C>T	ENSP00000369292:p.Asp81Asn	0						p.D81N	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	510	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	1	hg19	c.241G>A	CCDS34680.1	1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164680	0.06502	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22336	1.96;2.77	4.6	-1.92	0.07618	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.09338	T	0.73	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	N	81	ENSP00000369292:D81N;ENSP00000414529:D81N	ENSP00000369292:D81N	D	-	1	0	0	SAMD9	92573106	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	0		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_017654			147	144		574	568	1		1	1		0	0	108	0		1	9.999994e-01	0	16	0	64	0	147	574
SAMD9	54809	broad.mit.edu	37	7	92735188	92735188	+	Missense_Mutation	SNP	G	G	A	rs111780648	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735188G>A	ENST00000379958.2	-	3	492	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	75	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			GCTGTTTTCCGCAATTCTTTG	0.388													G|||	79	0.0157748	0.0	0.0288	5008	,	,		17251	0.0		0.0209	False		,,,				2504	0.0389					ENST00000379958.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.998235	0.990000	1.000000																										0				88						c.(223-225)Cgg>Tgg		sterile alpha motif domain containing 9		G	TRP/ARG,TRP/ARG	12,4394	20.2+/-43.8	0,12,2191	145.0	145.0	145.0		223,223	2.2	0.0	7	dbSNP_132	145	210,8390	89.2+/-151.4	5,200,4095	yes	missense,missense	SAMD9	NM_001193307.1,NM_017654.3	101,101	5,212,6286	AA,AG,GG		2.4419,0.2724,1.7069	benign,benign	75/1590,75/1590	92735188	222,12784	2203	4300	6503	SO:0001583	missense	54809	2542	121412	68				g.chr7:92735188G>A	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.223C>T	chr7.hg19:g.92735188G>A	ENSP00000369292:p.Arg75Trp	0						p.R75W	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	1	2	3	2.000345	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	3	492	-	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)		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	1	0	hg19	c.223C>T	CCDS34680.1	1	22	0.010073260073260074	0	0.0	6	0.016574585635359115	0	0.0	16	0.021108179419525065	G	11.28	1.593504	0.28357	0.002724	0.024419	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.47528	0.84;0.84	4.1	2.24	0.28232	4.1	2.24	0.28232	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	1.441110	0.04591	N	0.396786	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17379	-1.0371	10	0.51188	T	0.08	.	6.7306	0.23381	0.0953:0.0:0.7298:0.1749	.	75	Q5K651	SAMD9_HUMAN	W	75	ENSP00000369292:R75W;ENSP00000414529:R75W	ENSP00000369292:R75W	R	-	1	2	2	SAMD9	92573124	92573124	0.000000	0.05858	0.024000	0.17045	0.152000	0.21847	0.302000	0.19192	0.671000	0.31185	0.505000	0.49811	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	0	0	0		2	2	2	0		0	0	99		99	99	1	2.060000	-2.806910	1	0.170000	NM_017654			71	70		614	605	1		1	1		0	0	99	0		1	9.947052e-01	0	7	0	63	0	71	614
SAMD9L	219285	broad.mit.edu	37	7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1469					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)				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)			TGCCTGCTTGGACCTGCACAT	0.398																																						ENST00000318238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(4405-4407)tCc>tTc		sterile alpha motif domain containing 9-like							150.0	140.0	144.0					7																	92760879		2203	4300	6503	SO:0001583	missense	219285	0	0					g.chr7:92760879G>A	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.4406C>T	chr7.hg19:g.92760879G>A	ENSP00000326247:p.Ser1469Phe	0					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	p.S1469F	NM_152703.2	NP_689916.2	1	2	3	2.000345	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	5	5622	-	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)		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	1	1	hg19	c.4406C>T	CCDS34681.1	1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398691	0.42512	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.24908	1.83;1.83;1.83	5.22	4.26	0.50523	5.22	4.26	0.50523	.	0.251965	0.32518	N	0.005995	T	0.27697	0.0681	L	0.56769	1.78	0.26349	N	0.977236	B	0.15473	0.013	B	0.14578	0.011	T	0.21008	-1.0258	10	0.72032	D	0.01	-7.544	14.055	0.64761	0.0851:0.0:0.9149:0.0	.	1469	Q8IVG5	SAM9L_HUMAN	F	1469;1469;1469;291	ENSP00000326247:S1469F;ENSP00000405760:S1469F;ENSP00000408796:S1469F	ENSP00000326247:S1469F	S	-	2	0	0	SAMD9L	92598815	92598815	0.014000	0.17966	0.986000	0.45419	0.848000	0.48234	1.075000	0.30716	2.716000	0.92895	0.467000	0.42956	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1		2	2	2	0		0	0	184		184	182	1	2.060000	-20.000000	1	0.170000	NM_152703			212	210		792	780	1		1	1		0	0	184	0		1	1	0	20	0	147	0	212	792
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K	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																																						ENST00000318238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.N1140N(1)	large_intestine(1)	88						c.(3418-3420)aaC>aaA		sterile alpha motif domain containing 9-like							114.0	118.0	116.0					7																	92761865		2203	4299	6502	SO:0001583	missense	219285	0	0					g.chr7:92761865G>T	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>A	chr7.hg19:g.92761865G>T	ENSP00000326247:p.Asn1140Lys	0					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	p.N1140K	NM_152703.2	NP_689916.2	1	2	3	2.000345	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	5	4636	-	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)		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	1	1	hg19	c.3420C>A	CCDS34681.1	1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.018784	0.00418	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20881	2.04;2.04;2.04	4.88	-1.8	0.07907	4.88	-1.8	0.07907	.	0.250073	0.29369	N	0.012357	T	0.06781	0.0173	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32348	-0.9910	10	0.02654	T	1	-0.4434	1.9203	0.03306	0.1395:0.1944:0.276:0.3901	.	1140	Q8IVG5	SAM9L_HUMAN	K	1140	ENSP00000326247:N1140K;ENSP00000405760:N1140K;ENSP00000408796:N1140K	ENSP00000326247:N1140K	N	-	3	2	2	SAMD9L	92599801	92599801	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.330000	0.02675	-0.013000	0.14199	0.467000	0.42956	AAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	NM_152703			169	166		622	607	1		1	1		0	0	132	0		1	1	0	10	0	118	0	169	622
SAMD9L	219285	broad.mit.edu	37	7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	824					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)				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)			AAATCCTTTTCTGCTAAAACG	0.378																																						ENST00000318238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2470-2472)Gaa>Taa		sterile alpha motif domain containing 9-like							76.0	77.0	76.0					7																	92762815		2203	4299	6502	SO:0001587	stop_gained	219285	0	0					g.chr7:92762815C>A	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.2470G>T	chr7.hg19:g.92762815C>A	ENSP00000326247:p.Glu824*	0					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	p.E824*	NM_152703.2	NP_689916.2	1	2	3	2.000345	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	5	3686	-	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)		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	0	1	hg19	c.2470G>T	CCDS34681.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.488408	0.99567	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.67	1.81	0.25067	4.67	1.81	0.25067	.	0.229546	0.35151	N	0.003407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.998	8.6694	0.34140	0.0:0.7387:0.0:0.2613	.	.	.	.	X	824	.	ENSP00000326247:E824X	E	-	1	0	0	SAMD9L	92600751	92600751	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.087000	0.14958	0.190000	0.20209	0.467000	0.42956	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_152703			106	103		365	360	1		1	1		0	0	83	0		1	9.998843e-01	0	7	0	41	0	106	365
SAMD9L	219285	broad.mit.edu	37	7	92762927	92762927	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000411955.1_Silent_p.T786T|SAMD9L_ENST00000437805.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	786					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)				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)			TTGCCCTATAGGTGACCAGAT	0.378																																						ENST00000318238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2356-2358)acC>acA		sterile alpha motif domain containing 9-like							123.0	120.0	121.0					7																	92762927		2203	4300	6503	SO:0001819	synonymous_variant	219285	0	0					g.chr7:92762927G>T	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.2358C>A	chr7.hg19:g.92762927G>T		0					SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	p.T786T	NM_152703.2	NP_689916.2	1	2	3	2.000345	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	5	3574	-	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)		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	1	1	hg19	c.2358C>A	CCDS34681.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-2.951065	1	0.170000	NM_152703			117	117		546	538	1		1	1		0	0	134	0		1	9.999871e-01	0	10	0	66	0	117	546
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706					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)				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)			AAAATCTGAAGAATAGTTTTC	0.323																																						ENST00000318238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				88						c.(2116-2118)tCt>tAt		sterile alpha motif domain containing 9-like							52.0	55.0	54.0					7																	92763168		2200	4294	6494	SO:0001583	missense	219285	0	0					g.chr7:92763168G>T	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.2117C>A	chr7.hg19:g.92763168G>T	ENSP00000326247:p.Ser706Tyr	0					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	p.S706Y	NM_152703.2	NP_689916.2	1	2	3	2.000345	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	5	3333	-	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)		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	1	1	hg19	c.2117C>A	CCDS34681.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680810	0.47886	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.482216	0.19226	N	0.119549	T	0.41442	0.1159	M	0.63843	1.955	0.29057	N	0.884132	P	0.46142	0.873	P	0.54026	0.74	T	0.33059	-0.9883	10	0.72032	D	0.01	-9.738	13.7229	0.62740	0.0:0.1554:0.8446:0.0	.	706	Q8IVG5	SAM9L_HUMAN	Y	706	ENSP00000326247:S706Y;ENSP00000405760:S706Y;ENSP00000408796:S706Y	ENSP00000326247:S706Y	S	-	2	0	0	SAMD9L	92601104	92601104	0.961000	0.32948	1.000000	0.80357	0.864000	0.49448	2.549000	0.45803	2.372000	0.80975	0.467000	0.42956	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-5.012905	1	0.170000	NM_152703			102	99		317	312	1		1	1		0	0	78	0		1	9.999990e-01	0	11	0	54	0	102	317
HEPACAM2	253012	broad.mit.edu	37	7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	300	Ig-like C2-type 2.				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)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433																																						ENST00000394468.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(898-900)Gaa>Taa		HEPACAM family member 2							168.0	150.0	156.0					7																	92838007		2203	4300	6503	SO:0001587	stop_gained	253012	0	0					g.chr7:92838007C>A	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.898G>T	chr7.hg19:g.92838007C>A	ENSP00000377980:p.Glu300*	0					HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*	p.E300*	NM_001039372.1	NP_001034461.1	1	2	3	2.000345	A8MVW5	HECA2_HUMAN		4	975	-			B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	0	1	hg19	c.898G>T	CCDS43616.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929985	0.92389	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.23	4.28	0.50868	5.23	4.28	0.50868	.	0.047731	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.2396	9.6034	0.39619	0.0:0.7803:0.1439:0.0758	.	.	.	.	X	300;288;288;323	.	ENSP00000340532:E288X	E	-	1	0	0	HEPACAM2	92675943	92675943	1.000000	0.71417	0.984000	0.44739	0.701000	0.40568	4.060000	0.57477	2.826000	0.97356	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	1	0	1		2	2	2	0		0	0	116		116	112	1	2.060000	-20.000000	1	0.170000	NM_198151			93	92		360	353	1		1	0		0	0	116	0		1	3.607494e-01	0	1	0	5	0	93	360
CCDC132	55610	broad.mit.edu	37	7	92963455	92963455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000305866.5	+	22	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000544910.1_Silent_p.S638S|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	668						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313																																						ENST00000305866.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2002-2004)agT>agC		coiled-coil domain containing 132							149.0	146.0	147.0					7																	92963455		1815	4070	5885	SO:0001819	synonymous_variant	55610	0	0					g.chr7:92963455T>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2004T>C	chr7.hg19:g.92963455T>C		0					CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.S638S|CCDC132_ENST00000541136.1_Silent_p.S479S	p.S668S	NM_017667.3	NP_060137.2	1	2	3	2.000345	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	22	2132	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	1	1	hg19	c.2004T>C	CCDS43617.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	1	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000	NM_017667			136	135		513	506	1		1	1		0	0	150	0		1	9.999984e-01	0	29	0	44	0	136	513
CCDC132	55610	broad.mit.edu	37	7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000305866.5	+	26	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	861						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323																																						ENST00000305866.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2581-2583)gaA>gaC		coiled-coil domain containing 132							121.0	115.0	117.0					7																	92983071		1824	4076	5900	SO:0001583	missense	55610	0	0					g.chr7:92983071A>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2583A>C	chr7.hg19:g.92983071A>C	ENSP00000307666:p.Glu861Asp	0					CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000541136.1_3'UTR	p.E861D	NM_017667.3	NP_060137.2	1	2	3	2.000345	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)	26	2711	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	1	1	hg19	c.2583A>C	CCDS43617.1	1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844788	0.71603	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	4.23	0.50019	5.52	4.23	0.50019	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.38649	1.16	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.979	D;D;D	0.77004	0.989;0.98;0.982	T	0.58624	-0.7604	9	0.30078	T	0.28	-11.2153	10.4322	0.44413	0.8921:0.0:0.1079:0.0	.	581;831;861	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	861;831;581	.	ENSP00000307666:E861D	E	+	3	2	2	CCDC132	92821007	92821007	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.723000	0.47277	2.237000	0.73441	0.528000	0.53228	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_017667			100	97		419	408	1		1	1		0	0	93	0		1	9.999899e-01	0	22	0	49	0	100	419
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	104					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)			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)	ACTCCAGCCGGTGTGTCATCC	0.418																																						ENST00000394441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(256-258)Ccg>Tcg		calcitonin receptor	Pramlintide(DB01278)|Salmon Calcitonin(DB00017)						91.0	79.0	83.0					7																	93106930		2203	4300	6503	SO:0001583	missense	799	0	0					g.chr7:93106930G>A	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.256C>T	chr7.hg19:g.93106930G>A	ENSP00000377959:p.Pro86Ser	0					CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S	p.P86S	NM_001164738.1	NP_001158210.1	1	2	3	2.000345	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)	4	571	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	1	1	hg19	c.256C>T	CCDS5631.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	0	CALCR	92944866	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	0	0	1		16	2	2	1		1	1	47		47	44	1	2.060000	-20.000000	1	0.170000	NM_001742			43	42		170	169	1		1			1	0	47	0		9.999585e-01	0	0	0	0	0	0	43	170
COL1A2	1278	broad.mit.edu	37	7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	285					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)		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)	CGTGGTGAAGTGGGTCTTCCA	0.493										HNSCC(75;0.22)																												ENST00000297268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									COL1A2/PLAG1(3)	0				115						c.(853-855)gTg>gCg		collagen, type I, alpha 2	Collagenase(DB00048)						85.0	98.0	93.0					7																	94038695		2203	4300	6503	SO:0001583	missense	1278	0	0					g.chr7:94038695T>C	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.854T>C	chr7.hg19:g.94038695T>C	ENSP00000297268:p.Val285Ala	0	HNSCC(75;0.22)					p.V285A	NM_000089.3	NP_000080.2	1	2	3	2.000345	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	17	1325	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	1	1	hg19	c.854T>C	CCDS34682.1	1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282364	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93247	-3.19	5.73	1.87	0.25490	5.73	1.87	0.25490	.	0.381500	0.28130	N	0.016489	T	0.79393	0.4438	N	0.03050	-0.425	0.22903	N	0.998586	B	0.02656	0.0	B	0.01281	0.0	T	0.67662	-0.5613	10	0.30854	T	0.27	.	5.0595	0.14550	0.1218:0.2643:0.0:0.6139	.	285	P08123	CO1A2_HUMAN	A	285;286	ENSP00000297268:V285A	ENSP00000297268:V285A	V	+	2	0	0	COL1A2	93876631	93876631	0.818000	0.29161	0.992000	0.48379	0.990000	0.78478	1.716000	0.37981	0.132000	0.18615	0.533000	0.62120	GTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1		2	2	2	0		0	0	127		127	86	1	2.060000	-20.000000	1	0.170000	NM_000089			159	128		623	511	1		1	1		0	0	127	0		1	1	0	34	0	6292	0	159	623
COL1A2	1278	broad.mit.edu	37	7	94052429	94052429	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	855			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		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)	GCTGGTACTGCTGTAAGTGAT	0.473										HNSCC(75;0.22)																												ENST00000297268.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									COL1A2/PLAG1(3)	0				115						c.(2563-2565)gCt>gTt		collagen, type I, alpha 2	Collagenase(DB00048)						109.0	100.0	103.0					7																	94052429		2203	4300	6503	SO:0001630	splice_region_variant	1278	0	0					g.chr7:94052429C>T	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.2565+1C>T	chr7.hg19:g.94052429C>T		0	HNSCC(75;0.22)					p.A855V	NM_000089.3	NP_000080.2	1	2	3	2.000345	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	40	3035	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	1	0	hg19	c.2564C>T	CCDS34682.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583147	0.65992	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.95821	-3.82	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.258640	0.37530	N	0.002045	D	0.91653	0.7362	N	0.17872	0.535	0.54753	D	0.999987	B	0.10296	0.003	B	0.06405	0.002	D	0.86848	0.2021	10	0.51188	T	0.08	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	855	P08123	CO1A2_HUMAN	V	855;856	ENSP00000297268:A855V	ENSP00000297268:A855V	A	+	2	0	0	COL1A2	93890365	93890365	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.158000	0.42329	2.662000	0.90505	0.563000	0.77884	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1		2	2	2	0		0	0	72		72	71	1	2.060000	-20.000000	1	0.170000	NM_000089	Missense_Mutation		94	91		391	379	1		1	1		0	0	72	0		1	1	0	4	0	7355	0	94	391
COL1A2	1278	broad.mit.edu	37	7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					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)		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)	TCCCCCAGGTCGCGATGGTCA	0.483										HNSCC(75;0.22)																												ENST00000297268.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																									COL1A2/PLAG1(3)	0				115						c.(2812-2814)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						106.0	96.0	99.0					7																	94054952		2203	4300	6503	SO:0001583	missense	1278	0	0					g.chr7:94054952C>T	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.2812C>T	chr7.hg19:g.94054952C>T	ENSP00000297268:p.Arg938Cys	0	HNSCC(75;0.22)					p.R938C	NM_000089.3	NP_000080.2	1	2	3	2.000345	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	43	3283	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	1	1	hg19	c.2812C>T	CCDS34682.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428428	0.83667	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94330	-3.4	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97202	0.9865	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	938	P08123	CO1A2_HUMAN	C	938;939	ENSP00000297268:R938C	ENSP00000297268:R938C	R	+	1	0	0	COL1A2	93892888	93892888	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_000089			53	52		301	297	1		1	1		0	0	76	0		1	1	0	6	0	7374	0	53	301
CASD1	64921	broad.mit.edu	37	7	94180661	94180661	+	Silent	SNP	C	C	T	rs549396821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	609						integral component of membrane (GO:0016021)				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)			TAGTTTTCCACGGAATGCTGT	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		14771	0.001		0.0	False		,,,				2504	0.0					ENST00000297273.4	1.000000	0.600000	1	8.000000e-01	0.990000	0.927284	0.990000	1.000000																										0				31						c.(1825-1827)caC>caT		CAS1 domain containing 1							67.0	68.0	67.0					7																	94180661		2201	4296	6497	SO:0001819	synonymous_variant	64921	3	121356	28				g.chr7:94180661C>T	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.1827C>T	chr7.hg19:g.94180661C>T		0						p.H609H	NM_022900.4	NP_075051.4	1	2	3	2.000345	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	15	2114	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	ENST00000297273.4	1	1	hg19	c.1827C>T	CCDS5636.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-7.199628	1	0.170000	NM_022900			14	12		148	145	0		1	1		0	0	39	0		9.997474e-01	9.346838e-01	0	3	0	49	0	14	148
CASD1	64921	broad.mit.edu	37	7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	740						integral component of membrane (GO:0016021)				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)			AACATCATTGTCAGCACTTTC	0.388																																						ENST00000297273.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2218-2220)gTc>gCc		CAS1 domain containing 1							103.0	92.0	96.0					7																	94184895		2203	4300	6503	SO:0001583	missense	64921	0	0					g.chr7:94184895T>C	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.2219T>C	chr7.hg19:g.94184895T>C	ENSP00000297273:p.Val740Ala	0						p.V740A	NM_022900.4	NP_075051.4	1	2	3	2.000345	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	18	2506	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	1	1	hg19	c.2219T>C	CCDS5636.1	1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697164	0.48202	.	.	ENSG00000127995	ENST00000297273	T	0.52754	0.65	5.29	4.14	0.48551	5.29	4.14	0.48551	.	0.115568	0.64402	N	0.000017	T	0.49406	0.1555	M	0.78049	2.395	0.49389	D	0.999789	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.51332	-0.8719	10	0.87932	D	0	.	11.1885	0.48671	0.0:0.0728:0.0:0.9272	.	740;740	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	740	ENSP00000297273:V740A	ENSP00000297273:V740A	V	+	2	0	0	CASD1	94022831	94022831	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	6.114000	0.71560	0.970000	0.38263	-0.333000	0.08304	GTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_022900			55	54		262	257	1		1	0		0	0	61	0		1	9.869928e-01	0	0	0	35	0	55	262
SGCE	8910	broad.mit.edu	37	7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A	rs560154922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000265735.7	-	9	1357	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	SGCE_ENST00000437425.2_Missense_Mutation_p.T375M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000415788.2_Missense_Mutation_p.T452M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	416					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16101	0.0		0.0	False		,,,				2504	0.001					ENST00000265735.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1246-1248)aCg>aTg		sarcoglycan, epsilon							202.0	184.0	190.0					7																	94228093		2203	4300	6503	SO:0001583	missense	8910	9	121412	44				g.chr7:94228093G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1247C>T	chr7.hg19:g.94228093G>A	ENSP00000265735:p.Thr416Met	0					SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000415788.2_Missense_Mutation_p.T452M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M	p.T416M	NM_003919.2	NP_003910.1	1	2	3	2.000345	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	9	1357	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	1	1	hg19	c.1247C>T	CCDS5637.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148267	0.78001	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.045801	0.85682	D	0.000000	D	0.98055	0.9359	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;P;P;D	0.89917	1.0;1.0;0.998;0.916;0.919;0.997	D;D;P;P;P;D	0.91635	0.999;0.971;0.88;0.616;0.714;0.91	D	0.99246	1.0886	10	0.62326	D	0.03	-20.0409	19.1279	0.93393	0.0:0.0:1.0:0.0	.	452;375;407;416;416;407	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	M	416;416;375;407;407;452	ENSP00000265735:T416M;ENSP00000398930:T416M;ENSP00000394061:T375M;ENSP00000388734:T407M;ENSP00000397536:T407M;ENSP00000405313:T452M	ENSP00000265735:T416M	T	-	2	0	0	SGCE	94066029	94066029	1.000000	0.71417	0.857000	0.33713	0.893000	0.52053	9.297000	0.96120	2.608000	0.88229	0.650000	0.86243	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2	1	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-20.000000	1	0.170000				127	122		506	494	1		1	0		0	0	110	0		1	1	0	0	0	217	0	127	506
SGCE	8910	broad.mit.edu	37	7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000265735.7	-	3	410	c.300G>A	c.(298-300)tgG>tgA	p.W100*	SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000415788.2_Nonsense_Mutation_p.W136*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	100			W -> G (in DYT11). {ECO:0000269|PubMed:18362280}.		cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393																																						ENST00000265735.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14	GRCh37	CM061979	SGCE	M		c.(298-300)tgG>tgA		sarcoglycan, epsilon							92.0	84.0	87.0					7																	94257604		2203	4299	6502	SO:0001587	stop_gained	8910	0	0					g.chr7:94257604C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.300G>A	chr7.hg19:g.94257604C>T	ENSP00000265735:p.Trp100*	0					SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000415788.2_Nonsense_Mutation_p.W136*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*	p.W100*	NM_003919.2	NP_003910.1	1	2	3	2.000345	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	3	410	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Nonsense_Mutation	SNP	ENST00000265735.7	0	1	hg19	c.300G>A	CCDS5637.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.419078	0.96092	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8144	19.7702	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;59;100;100;136	.	ENSP00000265735:W100X	W	-	3	0	0	SGCE	94095540	94095540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000				37	37		133	132	1		1	0		0	0	32	0		1	9.999959e-01	0	0	0	74	0	37	133
PEG10	23089	broad.mit.edu	37	7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	210	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572																																						ENST00000482108.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(628-630)Ctc>Ttc		paternally expressed 10							115.0	122.0	119.0					7																	94293496		2097	4213	6310	SO:0001583	missense	23089	0	0					g.chr7:94293496C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.628C>T	chr7.hg19:g.94293496C>T	ENSP00000417587:p.Leu210Phe	0					PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	1	2	3	2.000345	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	2	1107	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	1	1	hg19	c.628C>T	CCDS55126.1	1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822762	0.71028	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.44881	0.91;0.91	4.05	4.05	0.47172	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.31822	N	0.625821	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68788	-0.5316	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:1.0:0.0:0.0	.	286;210	B4DSP0;Q86TG7	.;PEG10_HUMAN	F	210	ENSP00000417587:L210F;ENSP00000418944:L210F	ENSP00000417587:L210F	L	+	1	0	0	PEG10	94131432	94131432	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.473000	0.45145	2.276000	0.75962	0.555000	0.69702	CTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_015068			144	139		673	667	1		1	0		0	0	131	0		1	3.592709e-01	0	0	0	7	0	144	673
PPP1R9A	55607	broad.mit.edu	37	7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000433881.1	+	9	2754	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	741	Interacts with TGN38. {ECO:0000250}.				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)				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)			GAGGCCCAAACATTATGCCAC	0.393										HNSCC(28;0.073)																												ENST00000433881.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				71						c.(2221-2223)aCa>aAa		protein phosphatase 1, regulatory subunit 9A							95.0	86.0	89.0					7																	94879459		2203	4300	6503	SO:0001583	missense	55607	0	0					g.chr7:94879459C>A	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.2222C>A	chr7.hg19:g.94879459C>A	ENSP00000398870:p.Thr741Lys	0	HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K	p.T741K			1	2	3	2.000345	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	9	2754	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	1	1	hg19	c.2222C>A	CCDS34683.1	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243814	0.39697	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14640	2.49;2.53;2.51;2.53;2.51;2.51	5.22	3.29	0.37713	5.22	3.29	0.37713	.	0.054644	0.64402	D	0.000001	T	0.27384	0.0672	L	0.47716	1.5	0.47698	D	0.999495	B;D;B;D;D	0.69078	0.201;0.964;0.302;0.997;0.968	B;P;B;P;P	0.61874	0.053;0.79;0.153;0.895;0.554	T	0.04454	-1.0950	10	0.42905	T	0.14	.	16.3956	0.83604	0.0:0.7534:0.2466:0.0	.	741;741;763;741;741	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	763;741;741;741;741;741	ENSP00000405514:T763K;ENSP00000344524:T741K;ENSP00000411342:T741K;ENSP00000398870:T741K;ENSP00000289495:T741K;ENSP00000402893:T741K	ENSP00000289495:T741K	T	+	2	0	0	PPP1R9A	94717395	94717395	1.000000	0.71417	0.739000	0.30968	0.019000	0.09904	4.778000	0.62368	1.568000	0.49683	-0.165000	0.13383	ACA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.927810	1	0.170000	NM_001166160			37	37		179	178	1		1	0		0	0	49	0		1	8.183760e-02	0	0	0	3	0	37	179
PON1	5444	broad.mit.edu	37	7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	145					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(433-435)aaA>aaC		paraoxonase 1	Cefazolin(DB01327)						162.0	155.0	157.0					7																	94940825		2203	4300	6503	SO:0001583	missense	5444	0	0					g.chr7:94940825T>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.435A>C	chr7.hg19:g.94940825T>G	ENSP00000222381:p.Lys145Asn	0					PON1_ENST00000542556.1_Missense_Mutation_p.K145N	p.K145N	NM_000446.5	NP_000437.3	1	2	3	2.000345	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	5	666	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	1	1	hg19	c.435A>C	CCDS5638.1	1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748396	0.49257	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.44482	0.92;0.92	4.64	1.07	0.20283	4.64	1.07	0.20283	Six-bladed beta-propeller, TolB-like (1);	0.146914	0.64402	D	0.000015	T	0.38799	0.1054	M	0.73598	2.24	0.46298	D	0.998975	P;P	0.47191	0.891;0.826	B;B	0.39935	0.314;0.259	T	0.38112	-0.9676	10	0.72032	D	0.01	-24.5318	8.3656	0.32385	0.0:0.312:0.0:0.688	.	145;145	F5H4W9;P27169	.;PON1_HUMAN	N	145	ENSP00000222381:K145N;ENSP00000444854:K145N	ENSP00000222381:K145N	K	-	3	2	2	PON1	94778761	94778761	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.796000	0.26986	0.394000	0.25230	0.533000	0.62120	AAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_000446			88	87		359	351	1		1	0		0	0	99	0		1	0	0	0	0	1	0	88	359
PON2	5445	broad.mit.edu	37	7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000222572.3	-	9	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000536183.1_Missense_Mutation_p.R326H|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	305					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433																																					GBM(42;803 823 13649 23368 31463)	ENST00000222572.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(913-915)cGc>cAc		paraoxonase 2							149.0	133.0	138.0					7																	95034793		2203	4300	6503	SO:0001583	missense	5445	1	121412	26				g.chr7:95034793C>T	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.914G>A	chr7.hg19:g.95034793C>T	ENSP00000222572:p.Arg305His	0					PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Missense_Mutation_p.R326H	p.R305H			1	2	3	2.000345	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)	9	1160	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	1	1	hg19	c.914G>A	CCDS5640.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053052	0.75960	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.94	0.45596	4.82	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.056799	0.64402	D	0.000001	T	0.58764	0.2145	M	0.87456	2.885	0.54753	D	0.999984	D;D	0.71674	0.998;0.998	P;P	0.52267	0.694;0.694	T	0.68360	-0.5429	10	0.59425	D	0.04	-3.9691	13.2264	0.59916	0.0:0.9234:0.0:0.0766	.	305;305	A4D1H7;Q15165	.;PON2_HUMAN	H	326;303;293;305	ENSP00000440282:R326H;ENSP00000404622:R293H;ENSP00000222572:R305H	ENSP00000222572:R305H	R	-	2	0	0	PON2	94872729	94872729	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.482000	0.66833	1.395000	0.46643	0.655000	0.94253	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-3.169922	1	0.170000	NM_000305			94	93		449	443	1		1	1		0	0	107	0		1	1	0	155	0	283	0	94	449
ASB4	51666	broad.mit.edu	37	7	95157228	95157228	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157228C>T	ENST00000325885.5	+	3	662	c.591C>T	c.(589-591)caC>caT	p.H197H	ASB4_ENST00000428113.1_Silent_p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	197					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)			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)			ACGTGGAACACGGGGCCATAG	0.607											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5	1.000000	0.130000	4.600000e-01	2.000000e-01	0.300000	0.356950	0.300000	0.280000																										0				20						c.(589-591)caC>caT		ankyrin repeat and SOCS box containing 4							79.0	66.0	70.0					7																	95157228		2203	4300	6503	SO:0001819	synonymous_variant	51666	1	121412	34				g.chr7:95157228C>T	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.591C>T	chr7.hg19:g.95157228C>T		0		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.H197H	p.H197H	NM_016116.2	NP_057200.1	1	2	3	2.000345	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)	3	662	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	0	1	hg19	c.591C>T	CCDS5641.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-7.934151	1	0.170000	NM_016116			7	7		283	280	0		1			0	0	41	0		9.802257e-01	0	0	0	0	0	0	7	283
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	T	rs146416403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					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)			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)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		21063	0.0		0.001	False		,,,				2504	0.0					ENST00000325885.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(826-828)gcC>gcT		ankyrin repeat and SOCS box containing 4							79.0	60.0	66.0					7																	95157465		2203	4300	6503	SO:0001819	synonymous_variant	51666	2	121412	30				g.chr7:95157465C>T	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.828C>T	chr7.hg19:g.95157465C>T		0		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.A276A	p.A276A	NM_016116.2	NP_057200.1	1	2	3	2.000345	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)	3	899	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	1	1	hg19	c.828C>T	CCDS5641.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-3.720152	1	0.170000	NM_016116			60	60		233	227	1		1			0	0	38	0		1	0	0	0	0	0	0	60	233
PDK4	5166	broad.mit.edu	37	7	95218952	95218952	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	257	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				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)			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)			AGTATCATACCTTAAATAGTT	0.294																																						ENST00000005178.5	1.000000	0.120000	3.600000e-01	1.800000e-01	0.250000	0.302206	0.250000	0.230000																										0				15						c.(769-771)aaG>aaT		pyruvate dehydrogenase kinase, isozyme 4							87.0	97.0	93.0					7																	95218952		2203	4296	6499	SO:0001630	splice_region_variant	5166	0	0					g.chr7:95218952C>A	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.771+1G>T	chr7.hg19:g.95218952C>A		0						p.K257N	NM_002612.3	NP_002603.1	1	2	3	2.000345	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)	7	968	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)			Splice_Site	SNP	ENST00000005178.5	0	1	hg19	c.771G>T	CCDS5643.1	0	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058879	0.55325	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.55760	0.5	5.59	4.7	0.59300	5.59	4.7	0.59300	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82959	-0.0198	9	.	.	.	.	16.1555	0.81664	0.1347:0.8653:0.0:0.0	.	257	Q16654	PDK4_HUMAN	N	257;221	ENSP00000005178:K257N	.	K	-	3	2	2	PDK4	95056888	95056888	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.818000	0.86416	1.482000	0.48325	-0.181000	0.13052	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	0	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-2.037291	0	0.170000	NM_002612	Missense_Mutation		10	9		482	473	0		1	0		0	0	101	0		9.966040e-01	9.721722e-01	0	0	0	297	0	10	482
DYNC1I1	1780	broad.mit.edu	37	7	95657489	95657489	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000359388.4_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	341					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)			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)			CCTGACAGTCCTCTGTGATGT	0.478																																						ENST00000324972.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(1021-1023)tcC>tcA		dynein, cytoplasmic 1, intermediate chain 1							219.0	198.0	205.0					7																	95657489		2203	4300	6503	SO:0001819	synonymous_variant	1780	0	0					g.chr7:95657489C>A	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.1023C>A	chr7.hg19:g.95657489C>A		0					DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000359388.4_Silent_p.S304S	p.S341S	NM_004411.4	NP_004402.1	1	2	3	2.000345	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)	11	1216	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	1	1	hg19	c.1023C>A	CCDS5644.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	1	0	0		2	2	2	0		0	0	166		166	165	1	2.060000	-20.000000	1	0.170000	NM_004411			183	181		769	738	1		1	0		0	0	166	0		1	9.736046e-02	0	0	0	3	0	183	769
SHFM1	7979	broad.mit.edu	37	7	96324145	96324145	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333								Homologous recombination																														ENST00000248566.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(133-135)gaT>gaC	Homologous recombination	split hand/foot malformation (ectrodactyly) type 1							180.0	177.0	178.0					7																	96324145		2203	4300	6503	SO:0001819	synonymous_variant	7979	0	0					g.chr7:96324145A>G	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.135T>C	chr7.hg19:g.96324145A>G		0					SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	p.D45D	NM_006304.1	NP_006295.1	1	2	3	2.000345	P60896	DSS1_HUMAN		2	262	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		Q13437|Q61067	Silent	SNP	ENST00000248566.2	1	1	hg19	c.135T>C	CCDS5646.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_006304			114	114		421	414	1		1	1		0	0	97	0		1	1	0	413	0	985	0	114	421
DLX6	1750	broad.mit.edu	37	7	96639182	96639182	+	Silent	SNP	C	C	T	rs371198246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	117					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	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)					CTCATGAGAGCGACCCCCTCC	0.567													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17714	0.002		0.0	False		,,,				2504	0.0					ENST00000518156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(703-705)agC>agT		distal-less homeobox 6		C		1,4199		0,1,2099	55.0	58.0	57.0		705	-5.5	0.7	7		57	1,8497		0,1,4248	no	coding-synonymous	DLX6	NM_005222.3		0,2,6347	TT,TC,CC		0.0118,0.0238,0.0158		235/294	96639182	2,12696	2100	4249	6349	SO:0001819	synonymous_variant	1750	27	121070	45				g.chr7:96639182C>T		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.705C>T	chr7.hg19:g.96639182C>T		0					DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA	p.S235S			1	2	3	2.000345	P56179	DLX6_HUMAN		3	1135	+	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)		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	1	1	hg19	c.705C>T	CCDS47647.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	1	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_005222			91	88		283	277	0		1	0		0	0	58	0		1	0	0	0	0	1	0	91	283
DLX6	1750	broad.mit.edu	37	7	96639212	96639212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	127					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	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)					CGGCCCTGTCGCCACGCTCGC	0.577																																						ENST00000518156.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(733-735)tcG>tcA		distal-less homeobox 6							36.0	40.0	38.0					7																	96639212		2166	4274	6440	SO:0001819	synonymous_variant	1750	1	121204	30				g.chr7:96639212G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.735G>A	chr7.hg19:g.96639212G>A		0					DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA	p.S245S			1	2	3	2.000345	P56179	DLX6_HUMAN		3	1165	+	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)		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	1	1	hg19	c.735G>A	CCDS47647.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	1	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_005222			63	61		234	230	0		1	0		0	0	46	0		1	0	0	0	0	1	0	63	234
ASNS	440	broad.mit.edu	37	7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000394309.3	-	8	1490	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000455086.1_Missense_Mutation_p.R257H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 9; AAA36781). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000394309.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(1018-1020)cGt>cAt		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						67.0	66.0	66.0					7																	97486013		2203	4300	6503	SO:0001583	missense	440	0	0					g.chr7:97486013C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1019G>A	chr7.hg19:g.97486013C>T	ENSP00000377846:p.Arg340His	0					ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H	p.R340H	NM_133436.3	NP_597680.2	1	2	3	2.000345	P08243	ASNS_HUMAN		8	1490	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	1	1	hg19	c.1019G>A	CCDS5652.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547255	0.86022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.37	4.37	0.52481	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.87932	D	0	-7.2549	15.2252	0.73345	0.0:1.0:0.0:0.0	.	340	P08243	ASNS_HUMAN	H	340;340;257;340;319;257;319	ENSP00000175506:R340H;ENSP00000377846:R340H;ENSP00000414379:R257H;ENSP00000377845:R340H;ENSP00000414901:R319H;ENSP00000408472:R257H;ENSP00000406994:R319H	ENSP00000175506:R340H	R	-	2	0	0	ASNS	97323949	97323949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.756000	0.74919	2.368000	0.80403	0.555000	0.69702	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-20.000000	1	0.170000	NM_001673, NM_183356			71	69		274	269	1		1	1		0	0	67	0		1	1	0	41	0	92	0	71	274
ASNS	440	broad.mit.edu	37	7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000394309.3	-	3	644	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_ENST00000437628.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000455086.1_Intron	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	58	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000394309.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(172-174)gGa>gAa		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						87.0	76.0	80.0					7																	97498296		2203	4300	6503	SO:0001583	missense	440	0	0					g.chr7:97498296C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.173G>A	chr7.hg19:g.97498296C>T	ENSP00000377846:p.Gly58Glu	0					ASNS_ENST00000455086.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E	p.G58E	NM_133436.3	NP_597680.2	1	2	3	2.000345	P08243	ASNS_HUMAN		3	644	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	1	1	hg19	c.173G>A	CCDS5652.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345652	0.82022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.57907	0.4;0.4;0.4;0.37;0.37;0.58	3.77	3.77	0.43336	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.054876	0.64402	D	0.000001	T	0.82038	0.4950	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88657	0.3186	10	0.87932	D	0	-17.7657	13.4946	0.61416	0.0:1.0:0.0:0.0	.	58	P08243	ASNS_HUMAN	E	58;58;58;37;37;58;58;58;37	ENSP00000175506:G58E;ENSP00000377846:G58E;ENSP00000377845:G58E;ENSP00000414901:G37E;ENSP00000406994:G37E;ENSP00000400422:G58E	ENSP00000175506:G58E	G	-	2	0	0	ASNS	97336232	97336232	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	GGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	1	0	0		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_001673, NM_183356			93	93		293	288	1		1	1		0	0	64	0		1	1	0	68	0	132	0	93	293
ASNS	440	broad.mit.edu	37	7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000394309.3	-	3	617	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_ENST00000437628.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000455086.1_Intron	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	49	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.|Glutamine binding. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000394309.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				1						c.(145-147)cGg>cAg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						75.0	64.0	67.0					7																	97498323		2203	4300	6503	SO:0001583	missense	440	1	121412	39				g.chr7:97498323C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.146G>A	chr7.hg19:g.97498323C>T	ENSP00000377846:p.Arg49Gln	0					ASNS_ENST00000455086.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q	p.R49Q	NM_133436.3	NP_597680.2	1	2	3	2.000345	P08243	ASNS_HUMAN		3	617	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	1	1	hg19	c.146G>A	CCDS5652.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145453	0.77888	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.69806	-0.2;-0.2;-0.2;-0.43;-0.43;-0.36	3.77	3.77	0.43336	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-13.7033	13.4946	0.61416	0.0:1.0:0.0:0.0	.	49	P08243	ASNS_HUMAN	Q	49;49;49;28;28;49;49;49;28	ENSP00000175506:R49Q;ENSP00000377846:R49Q;ENSP00000377845:R49Q;ENSP00000414901:R28Q;ENSP00000406994:R28Q;ENSP00000400422:R49Q	ENSP00000175506:R49Q	R	-	2	0	0	ASNS	97336259	97336259	1.000000	0.71417	0.984000	0.44739	0.425000	0.31504	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	0	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-3.439746	1	0.170000	NM_001673, NM_183356			72	69		263	261	1		1	1		0	0	57	0		1	1	0	46	0	94	0	72	263
LMTK2	22853	broad.mit.edu	37	7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T	rs561329062		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					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)			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)					GACTTACCTGCGGCTGCAGAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		15375	0.001		0.0	False		,,,				2504	0.0					ENST00000297293.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				59						c.(1231-1233)Cgg>Tgg		lemur tyrosine kinase 2							63.0	58.0	60.0					7																	97821008		2203	4300	6503	SO:0001583	missense	22853	0	0					g.chr7:97821008C>T	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.1231C>T	chr7.hg19:g.97821008C>T	ENSP00000297293:p.Arg411Trp	0						p.R411W	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	1524	+	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)		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	1	1	hg19	c.1231C>T	CCDS5654.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936608	0.73442	.	.	ENSG00000164715	ENST00000297293	T	0.62788	-0.0	5.41	3.6	0.41247	5.41	3.6	0.41247	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78059	-0.2352	10	0.48119	T	0.1	.	14.3855	0.66942	0.2686:0.7314:0.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	W	411	ENSP00000297293:R411W	ENSP00000297293:R411W	R	+	1	2	2	LMTK2	97658944	97658944	1.000000	0.71417	0.829000	0.32907	0.781000	0.44180	4.639000	0.61361	0.767000	0.33267	-0.127000	0.14921	CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.336488	1	0.170000	NM_014916			39	38		212	208	1		1	1		0	0	44	0		1	9.720250e-01	0	13	0	21	0	39	212
LMTK2	22853	broad.mit.edu	37	7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	674					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)			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)					TTCCAGTTTGGATAACCCCAA	0.408																																						ENST00000297293.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(2020-2022)Gat>Tat		lemur tyrosine kinase 2							78.0	87.0	84.0					7																	97821797		2202	4300	6502	SO:0001583	missense	22853	0	0					g.chr7:97821797G>T	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.2020G>T	chr7.hg19:g.97821797G>T	ENSP00000297293:p.Asp674Tyr	0						p.D674Y	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	2313	+	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)		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	1	1	hg19	c.2020G>T	CCDS5654.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172564	0.57584	.	.	ENSG00000164715	ENST00000297293	T	0.80393	-1.37	5.91	3.1	0.35709	5.91	3.1	0.35709	.	0.619197	0.18351	N	0.143894	D	0.82820	0.5120	M	0.64997	1.995	0.09310	N	0.999999	D	0.58620	0.983	P	0.56865	0.808	T	0.72846	-0.4169	10	0.66056	D	0.02	.	6.1036	0.20061	0.2139:0.1357:0.6504:0.0	.	674	Q8IWU2	LMTK2_HUMAN	Y	674	ENSP00000297293:D674Y	ENSP00000297293:D674Y	D	+	1	0	0	LMTK2	97659733	97659733	0.984000	0.35163	0.009000	0.14445	0.988000	0.76386	2.183000	0.42565	0.384000	0.24942	0.655000	0.94253	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1		2	2	2	0		0	0	158		158	157	1	2.060000	-20.000000	1	0.170000	NM_014916			181	178		646	638	1		1	1		0	0	158	0		1	9.998924e-01	0	17	0	32	0	181	646
LMTK2	22853	broad.mit.edu	37	7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1009					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)			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)					CCACGAAGCGCTACTGGACTC	0.587																																						ENST00000297293.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3025-3027)Cta>Ata		lemur tyrosine kinase 2							98.0	106.0	104.0					7																	97822802		2203	4300	6503	SO:0001583	missense	22853	0	0					g.chr7:97822802C>A	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.3025C>A	chr7.hg19:g.97822802C>A	ENSP00000297293:p.Leu1009Ile	0						p.L1009I	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	3318	+	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)		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	1	1	hg19	c.3025C>A	CCDS5654.1	1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036078	0.07497	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.03	-2.43	0.06522	5.03	-2.43	0.06522	.	0.495348	0.19662	N	0.108944	T	0.66396	0.2785	L	0.48362	1.52	0.09310	N	1	P	0.42456	0.78	B	0.40636	0.335	T	0.61476	-0.7055	10	0.16896	T	0.51	.	12.0446	0.53473	0.0:0.6114:0.0:0.3886	.	1009	Q8IWU2	LMTK2_HUMAN	I	1009	ENSP00000297293:L1009I	ENSP00000297293:L1009I	L	+	1	2	2	LMTK2	97660738	97660738	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.226000	0.17776	-0.627000	0.05589	-0.312000	0.09012	CTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1		2	2	2	0		0	0	162		162	159	1	2.060000	-20.000000	1	0.170000	NM_014916			161	158		604	590	1		1	1		0	0	162	0		1	9.998582e-01	0	19	0	31	0	161	604
LMTK2	22853	broad.mit.edu	37	7	97823014	97823014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823014C>T	ENST00000297293.5	+	11	3530	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1079					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)			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)					CAGATGCCGGCGATGGTCACA	0.617																																						ENST00000297293.5	1.000000	0.120000	5.400000e-01	2.100000e-01	0.340000	0.391200	0.340000	0.300000																										0				59						c.(3235-3237)ggC>ggT		lemur tyrosine kinase 2							37.0	35.0	35.0					7																	97823014		2203	4300	6503	SO:0001819	synonymous_variant	22853	0	0					g.chr7:97823014C>T	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.3237C>T	chr7.hg19:g.97823014C>T		0						p.G1079G	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	3530	+	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)		A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	0	1	hg19	c.3237C>T	CCDS5654.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-7.058610	1	0.170000	NM_014916			5	5		188	186	0		1	1		0	0	30	0		9.366456e-01	4.011073e-01	0	3	0	43	0	5	188
LMTK2	22853	broad.mit.edu	37	7	97823515	97823515	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1246					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)			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)					TGGACAAGTCCCTGTCCAGCC	0.602																																						ENST00000297293.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				59						c.(3736-3738)tcC>tcT		lemur tyrosine kinase 2							47.0	51.0	49.0					7																	97823515		2203	4300	6503	SO:0001819	synonymous_variant	22853	0	0					g.chr7:97823515C>T	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.3738C>T	chr7.hg19:g.97823515C>T		0						p.S1246S	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	4031	+	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)		A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	1	1	hg19	c.3738C>T	CCDS5654.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_014916			44	43		184	177	1		1	1		0	0	38	0		1	9.999435e-01	0	30	0	35	0	44	184
LMTK2	22853	broad.mit.edu	37	7	97823692	97823692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1305					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)			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)					ACCTGCATAGCCTCAGCTCCG	0.632																																						ENST00000297293.5	1.000000	0.880000	1	9.900000e-01	0.990000	0.991303	0.990000	1.000000																										0				59						c.(3913-3915)agC>agT		lemur tyrosine kinase 2							124.0	117.0	119.0					7																	97823692		2203	4300	6503	SO:0001819	synonymous_variant	22853	0	0					g.chr7:97823692C>T	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.3915C>T	chr7.hg19:g.97823692C>T		0						p.S1305S	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		11	4208	+	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)		A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	1	1	hg19	c.3915C>T	CCDS5654.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1		2	2	2	0		0	0	88		88	85	1	2.060000	-16.148130	1	0.170000	NM_014916			50	50		459	454	0		1	1		0	0	88	0		1	9.595063e-01	0	14	0	36	0	50	459
LMTK2	22853	broad.mit.edu	37	7	97832996	97832996	+	Silent	SNP	C	C	T	rs188760642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	ENST00000297293.5	+	12	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1406					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)			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)					GCATCAACTCCGAAAGCTCCA	0.532													C|||	3	0.000599042	0.0	0.0	5008	,	,		18129	0.002		0.001	False		,,,				2504	0.0					ENST00000297293.5	1.000000	0.180000	6.200000e-01	2.800000e-01	0.410000	0.460462	0.410000	0.370000																										0				59						c.(4216-4218)tcC>tcT		lemur tyrosine kinase 2		C		0,4406		0,0,2203	42.0	35.0	37.0		4218	-11.6	0.0	7		37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1406/1504	97832996	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22853	46	121412	44				g.chr7:97832996C>T	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.4218C>T	chr7.hg19:g.97832996C>T		0						p.S1406S	NM_014916.3	NP_055731.2	1	2	3	2.000345	Q8IWU2	LMTK2_HUMAN		12	4511	+	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)		A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	0	1	hg19	c.4218C>T	CCDS5654.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	0	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-8.722563	1	0.170000	NM_014916			7	7		207	205	0		1	1		0	0	41	0		9.804746e-01	2.251019e-01	0	2	0	22	0	7	207
BHLHA15	168620	broad.mit.edu	37	7	97842100	97842100	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000609256.1	+	2	605	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	160					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	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)										CAGCAGGTGGCTGGGGGTGCG	0.697																																						ENST00000609256.1	1.000000	0.850000	1	9.900000e-01	0.990000	0.991115	0.990000	1.000000																										0										c.(478-480)gCt>gAt		basic helix-loop-helix family, member a15							7.0	7.0	7.0					7																	97842100		2116	4161	6277	SO:0001583	missense	168620	0	0					g.chr7:97842100C>A	BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"""Basic helix-loop-helix proteins"""	22265	protein-coding gene	gene with protein product		608606	"""basic helix-loop-helix domain containing, class B, 8"""	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.479C>A	chr7.hg19:g.97842100C>A	ENSP00000476312:p.Ala160Asp	0					BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D	p.A160D			1	2	3	2.000345	Q7RTS1	BHA15_HUMAN		2	605	+			A4D271|Q14DE4	Missense_Mutation	SNP	ENST00000609256.1	0	1	hg19	c.479C>A	CCDS5655.1	1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453234	0.26161	.	.	ENSG00000180535	ENST00000314018	D	0.93426	-3.22	3.97	1.97	0.26223	3.97	1.97	0.26223	Helix-loop-helix DNA-binding (1);	0.839557	0.10493	N	0.668215	D	0.84848	0.5563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72590	-0.4247	10	0.31617	T	0.26	.	4.19	0.10416	0.2277:0.6506:0.0:0.1216	.	160	Q7RTS1	BHA15_HUMAN	D	160	ENSP00000326391:A160D	ENSP00000326391:A160D	A	+	2	0	0	BHLHA15	97680036	97680036	0.630000	0.27155	0.002000	0.10522	0.002000	0.02628	1.264000	0.33015	1.038000	0.40049	-0.339000	0.08088	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472733.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-15.134910	1	0.170000	NM_177455			5	4		16	15	0		1	1		0	0	8	0		9.293570e-01	9.460833e-01	0	3	0	18	0	5	16
TECPR1	25851	broad.mit.edu	37	7	97858364	97858364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97858364G>A	ENST00000447648.2	-	16	2696	c.2397C>T	c.(2395-2397)ggC>ggT	p.G799G	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000379795.3_Silent_p.G800G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	799					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAAGCAGCCGCCTCCATAGC	0.687																																						ENST00000447648.2	1.000000	0.590000	1	9.100000e-01	0.990000	0.956683	0.990000	1.000000																										0				26						c.(2395-2397)ggC>ggT		tectonin beta-propeller repeat containing 1							14.0	18.0	17.0					7																	97858364		1927	4104	6031	SO:0001819	synonymous_variant	25851	1	119946	28				g.chr7:97858364G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2397C>T	chr7.hg19:g.97858364G>A		0					TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Silent_p.G800G	p.G799G			1	2	3	2.000345	Q7Z6L1	TCPR1_HUMAN		16	2696	-			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	0	1	hg19	c.2397C>T	CCDS47648.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-12.837230	1	0.170000	NM_015395			6	5		46	45	0		1	1		0	0	13	0		9.638568e-01	9.149897e-01	0	7	0	30	0	6	46
TECPR1	25851	broad.mit.edu	37	7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R|TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	185					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCAGCTCCTTGGGGTCATC	0.647																																						ENST00000447648.2	1.000000	0.220000	6.600000e-01	3.300000e-01	0.460000	0.506520	0.460000	0.430000																										0				26						c.(553-555)aAg>aGg		tectonin beta-propeller repeat containing 1							46.0	53.0	50.0					7																	97872882		2038	4196	6234	SO:0001583	missense	25851	0	0					g.chr7:97872882T>C		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.554A>G	chr7.hg19:g.97872882T>C	ENSP00000404923:p.Lys185Arg	0					TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R|TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R	p.K185R			1	2	3	2.000345	Q7Z6L1	TCPR1_HUMAN		6	853	-			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	1	1	hg19	c.554A>G	CCDS47648.1	0	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979333	0.34942	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30714	1.52;1.52;1.52	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.526566	0.22848	N	0.054895	T	0.20047	0.0482	N	0.19112	0.55	0.25899	N	0.983377	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.12553	-1.0543	10	0.12430	T	0.62	-23.8156	14.4017	0.67050	0.0:0.0:0.0:1.0	.	106;185	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	185;185;106	ENSP00000404923:K185R;ENSP00000369121:K185R;ENSP00000441121:K106R	ENSP00000369121:K185R	K	-	2	0	0	TECPR1	97710818	97710818	0.375000	0.25089	0.980000	0.43619	0.924000	0.55760	1.915000	0.39976	2.001000	0.58596	0.533000	0.62120	AAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-11.148210	1	0.170000	NM_015395			9	9		232	225	0		1	0		0	0	46	0		9.936717e-01	4.668693e-01	0	1	0	38	0	9	232
TRRAP	8295	broad.mit.edu	37	7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000359863.4	+	9	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	234					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(700-702)tTa>tCa		transformation/transcription domain-associated protein							166.0	160.0	162.0					7																	98497112		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98497112T>C	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.701T>C	chr7.hg19:g.98497112T>C	ENSP00000352925:p.Leu234Ser	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S	p.L234S	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	9	910	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.701T>C	CCDS59066.1	1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654112	0.67472	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03181	4.03;4.02	5.31	5.31	0.75309	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.56097	D	0.000026	T	0.12689	0.0308	L	0.46567	1.45	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.08371	-1.0725	10	0.32370	T	0.25	.	15.5558	0.76192	0.0:0.0:0.0:1.0	.	234;234	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	S	234	ENSP00000352925:L234S;ENSP00000347733:L234S	ENSP00000347733:L234S	L	+	2	0	0	TRRAP	98335048	98335048	1.000000	0.71417	0.875000	0.34327	0.971000	0.66376	7.915000	0.87484	2.136000	0.66102	0.379000	0.24179	TTA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	83		83	84	1	2.060000	-20.000000	1	0.170000	NM_003496			97	96		440	434	1		1	1		0	0	83	0		1	9.357310e-01	0	8	0	15	0	97	440
TRRAP	8295	broad.mit.edu	37	7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000359863.4	+	22	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	974					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(2920-2922)atG>atA		transformation/transcription domain-associated protein							175.0	139.0	151.0					7																	98522833		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98522833G>A	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.2922G>A	chr7.hg19:g.98522833G>A	ENSP00000352925:p.Met974Ile	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I	p.M974I	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	22	3131	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.2922G>A	CCDS59066.1	1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807794	0.70797	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02763	4.17;4.17	6.17	6.17	0.99709	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31026	0.304;0.031;0.131	B;B;B	0.26517	0.07;0.026;0.044	T	0.52230	-0.8603	10	0.23891	T	0.37	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	974;688;974	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	974;974;972	ENSP00000352925:M974I;ENSP00000347733:M974I	ENSP00000347733:M974I	M	+	3	0	0	TRRAP	98360769	98360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.941000	0.99782	0.655000	0.94253	ATG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_003496			102	102		430	418	1		1	1		0	0	128	0		1	9.992577e-01	0	12	0	35	0	102	430
TRRAP	8295	broad.mit.edu	37	7	98527811	98527811	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98527811C>T	ENST00000359863.4	+	24	3584	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	TRRAP_ENST00000446306.3_Silent_p.I1124I|TRRAP_ENST00000355540.3_Silent_p.I1125I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1125					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTATCATCCTGGGCTCCA	0.448																																						ENST00000359863.4	1.000000	0.150000	4.500000e-01	2.200000e-01	0.310000	0.357946	0.310000	0.290000																										0				176						c.(3373-3375)atC>atT		transformation/transcription domain-associated protein							76.0	76.0	76.0					7																	98527811		2203	4300	6503	SO:0001819	synonymous_variant	8295	1	121412	25				g.chr7:98527811C>T	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.3375C>T	chr7.hg19:g.98527811C>T		0					TRRAP_ENST00000446306.3_Silent_p.I1124I|TRRAP_ENST00000355540.3_Silent_p.I1125I	p.I1125I	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	24	3584	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	0	1	hg19	c.3375C>T	CCDS59066.1	0	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147083	0.21288	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.39	4.51	0.55191	5.39	4.51	0.55191	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60464	-0.7258	4	.	.	.	.	10.7312	0.46098	0.0:0.8531:0.0:0.1469	.	.	.	.	F	840	.	.	S	+	2	0	0	TRRAP	98365747	98365747	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.593000	0.23999	1.410000	0.46936	0.491000	0.48974	TCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	1		2	2	2	0		0	0	57		57	53	1	2.060000	-8.937101	1	0.170000	NM_003496			9	9		354	345	0		1	0		0	0	57	0		9.936745e-01	2.008677e-01	0	1	0	29	0	9	354
TRRAP	8295	broad.mit.edu	37	7	98535413	98535413	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000359863.4	+	30	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_ENST00000446306.3_Silent_p.S1457S|TRRAP_ENST00000355540.3_Silent_p.S1458S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1458					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(4372-4374)tcC>tcT		transformation/transcription domain-associated protein							60.0	48.0	52.0					7																	98535413		2203	4300	6503	SO:0001819	synonymous_variant	8295	0	0					g.chr7:98535413C>T	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.4374C>T	chr7.hg19:g.98535413C>T		0					TRRAP_ENST00000446306.3_Silent_p.S1457S|TRRAP_ENST00000355540.3_Silent_p.S1458S	p.S1458S	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	30	4583	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	1	1	hg19	c.4374C>T	CCDS59066.1	1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256147	0.22965	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.08	3.11	0.35812	6.08	3.11	0.35812	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.5057	0.27542	0.0:0.6585:0.1185:0.2229	.	.	.	.	L	1173	.	.	P	+	2	0	0	TRRAP	98373349	98373349	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.394000	0.20834	0.837000	0.34925	-0.345000	0.07892	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0		2	2	2	0		0	0	36		36	36	1	2.060000	-3.366561	1	0.170000	NM_003496			47	47		179	176	1		1	1		0	0	36	0		1	9.629296e-01	0	4	0	19	0	47	179
TRRAP	8295	broad.mit.edu	37	7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000359863.4	+	30	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(4402-4404)Atg>Gtg		transformation/transcription domain-associated protein							47.0	39.0	42.0					7																	98535441		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98535441A>G	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.4402A>G	chr7.hg19:g.98535441A>G	ENSP00000352925:p.Met1468Val	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V	p.M1468V	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	30	4611	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.4402A>G	CCDS59066.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.10|18.10	3.547699|3.547699	0.65311|0.65311	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63417|.	-0.04;-0.04|.	6.08|6.08	6.08|6.08	0.98989|0.98989	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56804|.	0.2010|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26775|.	0.159;0.065;0.122|.	B;B;B|.	0.23018|.	0.043;0.016;0.029|.	T|.	0.52533|.	-0.8563|.	10|.	0.87932|.	D|.	0|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1468;1182;1468|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1468;1468;1466|1182	ENSP00000352925:M1468V;ENSP00000347733:M1468V|.	ENSP00000347733:M1468V|.	M|X	+|+	1|3	0|0	0|0	TRRAP|TRRAP	98373377|98373377	98373377|98373377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.224000|9.224000	0.95209|0.95209	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_003496			41	41		155	149	1		1	1		0	0	29	0		1	9.551708e-01	0	2	0	20	0	41	155
TRRAP	8295	broad.mit.edu	37	7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000359863.4	+	39	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1836					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(5506-5508)gCc>gAc		transformation/transcription domain-associated protein							109.0	89.0	95.0					7																	98550854		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98550854C>A	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.5507C>A	chr7.hg19:g.98550854C>A	ENSP00000352925:p.Ala1836Asp	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D	p.A1836D	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	39	5716	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.5507C>A	CCDS59066.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891159|4.891159	0.91889|0.91889	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.055467|.	0.64402|.	D|.	0.000001|.	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40398|.	0.688;0.716;0.561|.	B;B;B|.	0.36030|.	0.216;0.116;0.116|.	T|T	0.70673|0.70673	-0.4807|-0.4807	10|5	0.66056|.	D|.	0.02|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1557;1836|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|T	1836;1818;1816|1558	ENSP00000352925:A1836D;ENSP00000347733:A1818D|.	ENSP00000347733:A1818D|.	A|P	+|+	2|1	0|0	0|0	TRRAP|TRRAP	98388790|98388790	98388790|98388790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_003496			63	62		251	244	1		1	1		0	0	61	0		1	9.985767e-01	0	6	0	36	0	63	251
TRRAP	8295	broad.mit.edu	37	7	98552800	98552800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552800C>T	ENST00000359863.4	+	40	5998	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1930					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGACCCCGGCGGTGCCGGCC	0.592																																						ENST00000359863.4	1.000000	0.180000	5.400000e-01	2.600000e-01	0.380000	0.423573	0.380000	0.350000																										0				176						c.(5788-5790)gCg>gTg		transformation/transcription domain-associated protein							49.0	45.0	46.0					7																	98552800		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98552800C>T	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.5789C>T	chr7.hg19:g.98552800C>T	ENSP00000352925:p.Ala1930Val	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V	p.A1930V	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	40	5998	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	0	1	hg19	c.5789C>T	CCDS59066.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203775|5.203775	0.95033|0.95033	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.51071|.	0.72;0.72|.	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72203|0.72203	0.3431|0.3431	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;B;B|.	0.61697|.	0.99;0.125;0.294|.	B;B;B|.	0.43623|.	0.425;0.033;0.033|.	T|T	0.68484|0.68484	-0.5396|-0.5396	10|5	0.15952|.	T|.	0.53|.	.|.	19.5376|19.5376	0.95260|0.95260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1912;1651;1930|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1930;1912;1910|1652	ENSP00000352925:A1930V;ENSP00000347733:A1912V|.	ENSP00000347733:A1912V|.	A|R	+|+	2|1	0|2	0|2	TRRAP|TRRAP	98390736|98390736	98390736|98390736	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCG|CGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	0		2	2	2	0		0	0	46		46	45	1	2.060000	-9.603015	1	0.170000	NM_003496			9	7		288	285	0		1	1		0	0	46	0		9.939570e-01	3.910269e-01	0	2	0	39	0	9	288
TRRAP	8295	broad.mit.edu	37	7	98552885	98552885	+	Silent	SNP	G	G	A	rs143014711	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000359863.4	+	40	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_ENST00000446306.3_Silent_p.P1939P|TRRAP_ENST00000355540.3_Silent_p.P1940P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1958					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.0					ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999648	0.990000	1.000000																										0				176						c.(5872-5874)ccG>ccA		transformation/transcription domain-associated protein		G		1,4405	2.1+/-5.4	0,1,2202	44.0	38.0	40.0		5820	-11.1	0.0	7	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1940/3831	98552885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295	9	121412	37				g.chr7:98552885G>A	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.5874G>A	chr7.hg19:g.98552885G>A		0					TRRAP_ENST00000446306.3_Silent_p.P1939P|TRRAP_ENST00000355540.3_Silent_p.P1940P	p.P1958P	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	40	6083	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	1	1	hg19	c.5874G>A	CCDS59066.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.528	0.098067	0.08681	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58205	-0.7677	4	.	.	.	.	1.8097	0.03088	0.3324:0.1798:0.3146:0.1732	.	.	.	.	H	1680	.	.	R	+	2	0	0	TRRAP	98390821	98390821	0.000000	0.05858	0.027000	0.17364	0.630000	0.37929	-2.283000	0.01155	-5.225000	0.00019	-1.446000	0.01064	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0		2	2	2	0		0	0	47		47	47	1	2.060000	-2.926498	1	0.170000	NM_003496			28	26		175	174	1		1	1		0	0	47	0		1	9.690580e-01	0	11	0	27	0	28	175
TRRAP	8295	broad.mit.edu	37	7	98562313	98562313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000359863.4	+	47	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_ENST00000446306.3_Silent_p.I2271I|TRRAP_ENST00000355540.3_Silent_p.I2272I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2290	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(6868-6870)atC>atT		transformation/transcription domain-associated protein							98.0	88.0	92.0					7																	98562313		2203	4300	6503	SO:0001819	synonymous_variant	8295	0	0					g.chr7:98562313C>T	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.6870C>T	chr7.hg19:g.98562313C>T		0					TRRAP_ENST00000446306.3_Silent_p.I2271I|TRRAP_ENST00000355540.3_Silent_p.I2272I	p.I2290I	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	47	7079	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	1	1	hg19	c.6870C>T	CCDS59066.1	1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253478	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	0.596	0.17496	5.17	0.596	0.17496	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	.	5.1622	0.15068	0.1358:0.4366:0.0:0.4276	.	.	.	.	F	2012	.	.	S	+	2	0	0	TRRAP	98400249	98400249	0.993000	0.37304	0.990000	0.47175	0.494000	0.33585	0.338000	0.19858	0.246000	0.21394	-0.793000	0.03317	TCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-20.000000	1	0.170000	NM_003496			89	88		316	308	1		1	1		0	0	59	0		1	9.999947e-01	0	16	0	49	0	89	316
TRRAP	8295	broad.mit.edu	37	7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000359863.4	+	50	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532																																						ENST00000359863.4	1.000000	0.550000	1	6.700000e-01	0.820000	0.826454	0.820000	1.000000																										0				176						c.(7402-7404)Cgt>Tgt		transformation/transcription domain-associated protein							89.0	75.0	80.0					7																	98565232		2203	4300	6503	SO:0001583	missense	8295	1	121412	27				g.chr7:98565232C>T	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.7402C>T	chr7.hg19:g.98565232C>T	ENSP00000352925:p.Arg2468Cys	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C	p.R2468C	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	50	7611	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.7402C>T	CCDS59066.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.537194	0.96460	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03386	3.95;3.95	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.88;0.932	T	0.00002	-1.2633	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2450;2189;2468	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2468;2450;2449	ENSP00000352925:R2468C;ENSP00000347733:R2450C	ENSP00000347733:R2450C	R	+	1	0	0	TRRAP	98403168	98403168	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	CGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_003496			26	26		353	348	0		1	1		0	0	71	0		9.999999e-01	7.340117e-01	0	3	0	34	0	26	353
TRRAP	8295	broad.mit.edu	37	7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000359863.4	+	63	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3215	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)			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)			AAAAACACTTTGGCAGATGCC	0.507																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(9643-9645)tTg>tCg		transformation/transcription domain-associated protein							111.0	102.0	105.0					7																	98588118		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98588118T>C	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.9644T>C	chr7.hg19:g.98588118T>C	ENSP00000352925:p.Leu3215Ser	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S	p.L3215S	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	63	9853	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.9644T>C	CCDS59066.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.764004|4.764004	0.89932|0.89932	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.04275|.	3.66;3.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	5.67|5.67	5.67|5.67	0.87782|0.87782	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.84656|0.84656	0.5520|0.5520	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.76071|.	0.987;0.944;0.944|.	D|D	0.88106|0.88106	0.2822|0.2822	10|5	0.87932|.	D|.	0|.	.|.	15.9056|15.9056	0.79427|0.79427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3186;2925;3215|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|R	3215;3186;3185|2926	ENSP00000352925:L3215S;ENSP00000347733:L3186S|.	ENSP00000347733:L3186S|.	L|W	+|+	2|1	0|0	0|0	TRRAP|TRRAP	98426054|98426054	98426054|98426054	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	TTG|TGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_003496			87	85		353	344	1		1	1		0	0	87	0		1	9.999961e-01	0	18	0	57	0	87	353
TRRAP	8295	broad.mit.edu	37	7	98592299	98592299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000359863.4	+	66	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_ENST00000446306.3_Silent_p.P3354P|TRRAP_ENST00000355540.3_Silent_p.P3336P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3365					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(10093-10095)ccC>ccT		transformation/transcription domain-associated protein							194.0	185.0	188.0					7																	98592299		2203	4300	6503	SO:0001819	synonymous_variant	8295	1	121412	35				g.chr7:98592299C>T	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.10095C>T	chr7.hg19:g.98592299C>T		0					TRRAP_ENST00000446306.3_Silent_p.P3354P|TRRAP_ENST00000355540.3_Silent_p.P3336P	p.P3365P	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	66	10304	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	1	1	hg19	c.10095C>T	CCDS59066.1	1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957124	0.18507	.	.	ENSG00000196367	ENST00000456197	T	0.03124	4.04	5.05	-8.0	0.01126	5.05	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	7	0.49607	T	0.09	.	1.4586	0.02391	0.1617:0.2501:0.2958:0.2925	.	.	.	.	L	3094	ENSP00000394645:P3094L	ENSP00000394645:P3094L	P	+	2	0	0	TRRAP	98430235	98430235	0.000000	0.05858	0.884000	0.34674	0.963000	0.63663	-2.000000	0.01466	-1.255000	0.02481	0.462000	0.41574	CCC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0		2	2	2	0		0	0	233		233	229	1	2.060000	-3.180492	1	0.170000	NM_003496			262	255		1050	1035	1		1	1		0	0	233	0		1	9.999999e-01	0	23	0	67	0	262	1050
TRRAP	8295	broad.mit.edu	37	7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572																																						ENST00000359863.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				176						c.(10210-10212)gCg>gTg		transformation/transcription domain-associated protein							101.0	109.0	106.0					7																	98592415		2203	4300	6503	SO:0001583	missense	8295	0	0					g.chr7:98592415C>T	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.10211C>T	chr7.hg19:g.98592415C>T	ENSP00000352925:p.Ala3404Val	0					TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V	p.A3404V	NM_001244580.1	NP_001231509.1	1	2	3	2.000345	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	66	10420	+	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)		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	1	1	hg19	c.10211C>T	CCDS59066.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	0|0	TRRAP|TRRAP	98430351|98430351	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1		2	2	2	0		0	0	163		163	161	1	2.060000	-20.000000	1	0.170000	NM_003496			170	168		906	892	1		1	1		0	0	163	0		1	9.999695e-01	0	24	0	55	0	170	906
ARPC1A	10552	broad.mit.edu	37	7	98946483	98946483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98946483G>A	ENST00000262942.5	+	5	525	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.S87N	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	134					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGGGTGAGCAAGCACATT	0.463																																						ENST00000262942.5	1.000000	0.240000	5.900000e-01	3.300000e-01	0.440000	0.477676	0.440000	0.410000																										0				19						c.(400-402)aGc>aAc		actin related protein 2/3 complex, subunit 1A, 41kDa							128.0	109.0	116.0					7																	98946483		2203	4300	6503	SO:0001583	missense	10552	0	0					g.chr7:98946483G>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.401G>A	chr7.hg19:g.98946483G>A	ENSP00000262942:p.Ser134Asn	0					ARPC1A_ENST00000432884.2_Missense_Mutation_p.S87N	p.S134N	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	1	2	3	2.000345	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	5	525	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	0	1	hg19	c.401G>A	CCDS5660.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056792	0.76074	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66460	-0.21;-0.21	5.29	5.29	0.74685	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.68943	0.961;0.95	D	0.90208	0.4262	10	0.56958	D	0.05	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	129;134	Q53GB6;Q92747	.;ARC1A_HUMAN	N	87;134	ENSP00000408578:S87N;ENSP00000262942:S134N	ENSP00000262942:S134N	S	+	2	0	0	ARPC1A	98784419	98784419	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.835000	0.99442	2.646000	0.89796	0.591000	0.81541	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-13.039370	1	0.170000	NM_006409			13	12		351	344	0		1	1		0	0	68	0		9.994844e-01	9.996661e-01	0	14	0	366	0	13	351
ZNF394	84124	broad.mit.edu	37	7	99097579	99097579	+	Silent	SNP	G	G	A	rs142631169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000337673.6	-	1	341	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	46					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18302	0.0		0.001	False		,,,				2504	0.0				Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(136-138)ccC>ccT		zinc finger protein 394							51.0	52.0	52.0					7																	99097579		2203	4300	6503	SO:0001819	synonymous_variant	84124	0	0					g.chr7:99097579G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.138C>T	chr7.hg19:g.99097579G>A		0					ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	p.P46P	NM_032164.2	NP_115540.2	1	2	3	2.000345	Q53GI3	ZN394_HUMAN		1	341	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	1	1	hg19	c.138C>T	CCDS5666.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	1	0	0		2	2	2	0		0	0	66		66	66	1	2.060000	-2.721372	1	0.170000	NM_032164			71	70		324	319	0		1	1		0	0	66	0		1	9.999757e-01	0	22	0	51	0	71	324
ZKSCAN5	23660	broad.mit.edu	37	7	99103950	99103950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000451158.1_Silent_p.L95L|ZKSCAN5_ENST00000326775.5_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597																																						ENST00000394170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(283-285)Ctg>Ttg		zinc finger with KRAB and SCAN domains 5							79.0	80.0	79.0					7																	99103950		2203	4300	6503	SO:0001819	synonymous_variant	23660	0	0					g.chr7:99103950C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.283C>T	chr7.hg19:g.99103950C>T		0					ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	p.L95L	NM_014569.3	NP_055384.1	1	2	3	2.000345	Q9Y2L8	ZKSC5_HUMAN		2	534	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	1	1	hg19	c.283C>T	CCDS5667.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	1	0	1		2	2	2	0		0	0	135		135	133	1	2.060000	-20.000000	1	0.170000	NM_014569			99	98		441	436	0		1	1		0	0	135	0		1	9.683501e-01	0	6	0	21	0	99	441
ZKSCAN5	23660	broad.mit.edu	37	7	99123455	99123455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000451158.1_Silent_p.N264N|ZKSCAN5_ENST00000326775.5_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	264	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423																																						ENST00000394170.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(790-792)aaT>aaC		zinc finger with KRAB and SCAN domains 5							91.0	95.0	93.0					7																	99123455		2203	4300	6503	SO:0001819	synonymous_variant	23660	0	0					g.chr7:99123455T>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.792T>C	chr7.hg19:g.99123455T>C		0					ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	p.N264N	NM_014569.3	NP_055384.1	1	2	3	2.000345	Q9Y2L8	ZKSC5_HUMAN		6	1043	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	1	1	hg19	c.792T>C	CCDS5667.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_014569			125	124		478	469	0		1	1		0	0	138	0		1	9.971109e-01	0	14	0	22	0	125	478
FAM200A	221786	broad.mit.edu	37	7	99146025	99146025	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	2						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468																																						ENST00000449309.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(4-6)acT>acC		family with sequence similarity 200, member A							61.0	63.0	62.0					7																	99146025		2188	4297	6485	SO:0001819	synonymous_variant	221786	0	0					g.chr7:99146025A>G		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.6T>C	chr7.hg19:g.99146025A>G		0						p.T2T	NM_145111.3	NP_659802.1	1	2	3	2.000345	Q8TCP9	F200A_HUMAN		2	385	-			A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	1	1	hg19	c.6T>C	CCDS5668.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_145111			56	56		207	205	1		1	1		0	0	58	0		1	8.299476e-01	0	4	0	10	0	56	207
CYP3A7	1551	broad.mit.edu	37	7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	355					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)			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)	CATGTCAAGATACTCCAACTG	0.368																																						ENST00000336374.2	1.000000	0.770000	1	9.300000e-01	0.990000	0.973511	0.990000	1.000000																										0				32						c.(1063-1065)tAt>tGt		cytochrome P450, family 3, subfamily A, polypeptide 7	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)						124.0	111.0	116.0					7																	99306847		2203	4300	6503	SO:0001583	missense	1551	0	0					g.chr7:99306847T>C	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.1064A>G	chr7.hg19:g.99306847T>C	ENSP00000337450:p.Tyr355Cys	0						p.Y355C	NM_000765.3	NP_000756.2	1	2	3	2.000345	P24462	CP3A7_HUMAN		11	1066	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	1	1	hg19	c.1064A>G	CCDS5673.1	1	.	.	.	.	.	.	.	.	.	.	t	12.29	1.894344	0.33442	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.76186	-1.0	3.46	3.46	0.39613	3.46	3.46	0.39613	.	0.060024	0.64402	N	0.000002	D	0.91229	0.7236	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92453	0.5971	10	0.87932	D	0	.	10.1349	0.42701	0.0:0.0:0.0:1.0	.	355	P24462	CP3A7_HUMAN	C	355	ENSP00000337450:Y355C	ENSP00000292414:Y355C	Y	-	2	0	0	CYP3A7	99144783	99144783	1.000000	0.71417	0.714000	0.30535	0.045000	0.14185	7.649000	0.83500	1.335000	0.45486	0.254000	0.18369	TAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000				31	31		301	297	1		1	1		0	0	77	0		1	1.075824e-01	0	2	0	4	0	31	301
CYP3A7	1551	broad.mit.edu	37	7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	201					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)			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)	ACAAAGGGGTCTTGTGGATTG	0.428																																						ENST00000336374.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(601-603)Gac>Tac		cytochrome P450, family 3, subfamily A, polypeptide 7	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)						180.0	170.0	174.0					7																	99313450		2203	4300	6503	SO:0001583	missense	1551	0	0					g.chr7:99313450C>A	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.601G>T	chr7.hg19:g.99313450C>A	ENSP00000337450:p.Asp201Tyr	0					AC069294.1_ENST00000408560.1_RNA	p.D201Y	NM_000765.3	NP_000756.2	1	2	3	2.000345	P24462	CP3A7_HUMAN		7	603	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	1	1	hg19	c.601G>T	CCDS5673.1	1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739833	0.30865	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69435	-0.4	4.22	2.38	0.29361	4.22	2.38	0.29361	.	0.155454	0.64402	D	0.000015	D	0.84808	0.5554	H	0.96015	3.755	0.46113	D	0.998871	D	0.89917	1.0	D	0.87578	0.998	D	0.84182	0.0440	10	0.72032	D	0.01	.	8.3536	0.32316	0.0:0.7975:0.0:0.2025	.	201	P24462	CP3A7_HUMAN	Y	201	ENSP00000337450:D201Y	ENSP00000292414:D201Y	D	-	1	0	0	CYP3A7	99151386	99151386	0.976000	0.34144	0.007000	0.13788	0.002000	0.02628	2.482000	0.45224	0.335000	0.23614	-0.266000	0.10368	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1	1	0	1		2	2	2	0		0	0	152		152	152	1	2.060000	-20.000000	1	0.170000				163	153		564	553	1		1			0	0	152	0		1	0	0	0	0	0	0	163	564
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000342499.4_Silent_p.I136I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			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)			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)	AACAGATGATCGACTCCCAGA	0.433																																						ENST00000354829.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(826-828)atC>atT		cytochrome P450, family 3, subfamily A, polypeptide 43	Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)						94.0	101.0	99.0					7																	99454485		2203	4300	6503	SO:0001819	synonymous_variant	64816	2	121410	31				g.chr7:99454485C>T	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.828C>T	chr7.hg19:g.99454485C>T		0					CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Silent_p.I23I	p.I276I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	1	2	3	2.000345	Q9HB55	CP343_HUMAN		9	931	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	1	1	hg19	c.828C>T	CCDS5676.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1	1	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-20.000000	1	0.170000				99	98		419	408	1		1			0	0	145	0		1	0	0	0	0	0	0	99	419
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GCCATCTTCAGGATGATTGTG	0.478																																						ENST00000316368.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(235-237)Ctg>Atg		olfactory receptor, family 2, subfamily AE, member 1							114.0	97.0	103.0					7																	99474422		2203	4300	6503	SO:0001583	missense	81392	0	0					g.chr7:99474422G>T	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.235C>A	chr7.hg19:g.99474422G>T	ENSP00000313936:p.Leu79Met	0						p.L79M	NM_001005276.1	NP_001005276.1	1	2	3	2.000345	Q8NHA4	O2AE1_HUMAN		1	258	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	1	1	hg19	c.235C>A	CCDS34696.1	1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473671	0.26423	.	.	ENSG00000244623	ENST00000316368	T	0.00397	7.57	3.63	3.63	0.41609	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.189811	0.26082	N	0.026448	T	0.00241	0.0007	N	0.24115	0.695	0.30255	N	0.793721	B	0.22080	0.064	B	0.09377	0.004	T	0.42378	-0.9455	10	0.87932	D	0	.	13.5959	0.61988	0.0:0.0:1.0:0.0	.	79	Q8NHA4	O2AE1_HUMAN	M	79	ENSP00000313936:L79M	ENSP00000313936:L79M	L	-	1	2	2	OR2AE1	99312358	99312358	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	5.722000	0.68485	2.321000	0.78463	0.501000	0.49751	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-3.295334	1	0.170000				71	67		296	290	1		1			0	0	80	0		1	0	0	0	0	0	0	71	296
TRIM4	89122	broad.mit.edu	37	7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			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)				CAGCGCTGTAGAAGGAGACAT	0.537																																						ENST00000355947.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1375-1377)ttC>ttA		tripartite motif containing 4							146.0	141.0	143.0					7																	99489912		2203	4300	6503	SO:0001583	missense	89122	0	0					g.chr7:99489912G>T	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.1377C>A	chr7.hg19:g.99489912G>T	ENSP00000348216:p.Phe459Leu	0					TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	p.F459L	NM_033017.3	NP_148977.2	1	2	3	2.000345	Q9C037	TRIM4_HUMAN		7	1506	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	1	1	hg19	c.1377C>A	CCDS5679.1	1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609670	0.66558	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89343	-2.5;-2.5	2.64	2.64	0.31445	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.92289	0.7554	M	0.90309	3.105	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.55087	0.656;0.768	D	0.91861	0.5499	9	0.87932	D	0	.	5.5083	0.16866	0.1527:0.0:0.8473:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	L	459;433;289	ENSP00000348216:F459L;ENSP00000275736:F433L	ENSP00000275736:F433L	F	-	3	2	2	TRIM4	99327848	99327848	1.000000	0.71417	0.919000	0.36401	0.878000	0.50629	1.115000	0.31209	1.806000	0.52798	0.655000	0.94253	TTC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	1	0	1		2	2	2	0		0	0	201		201	200	1	2.060000	-20.000000	1	0.170000	NM_033017			184	181		801	783	1		1	1		0	0	201	0		1	1	0	52	0	145	0	184	801
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				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)			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)					TCAATTTTCCCTGGGTAGAAG	0.557																																						ENST00000292401.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999511	0.990000	1.000000																										0				16						c.(697-699)Ggg>Tgg		alpha-2-glycoprotein 1, zinc-binding							38.0	37.0	37.0					7																	99564826		2203	4295	6498	SO:0001583	missense	563	0	0					g.chr7:99564826C>A	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.697G>T	chr7.hg19:g.99564826C>A	ENSP00000292401:p.Gly233Trp	0					AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	p.G233W	NM_001185.3	NP_001176.1	1	2	3	2.000345	P25311	ZA2G_HUMAN		4	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	0	1	hg19	c.697G>T	CCDS5680.1	1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017950	0.07681	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.14766	2.48	2.34	0.137	0.14787	2.34	0.137	0.14787	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.824850	0.03891	U	0.278723	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.12016	-1.0564	10	0.87932	D	0	.	5.775	0.18273	0.0:0.4082:0.395:0.1968	.	233	P25311	ZA2G_HUMAN	W	233;83	ENSP00000292401:G233W	ENSP00000292401:G233W	G	-	1	0	0	AZGP1	99402762	99402762	0.000000	0.05858	0.080000	0.20451	0.126000	0.20510	-0.163000	0.09997	-0.146000	0.11274	-0.802000	0.03209	GGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	1	0	1		2	2	2	0		0	0	31		31	36	1	2.060000	-20.000000	1	0.170000	NM_001185			25	24		154	145	1		1	1		0	0	31	0		9.999998e-01	1	0	58	0	198	0	25	154
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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)			CACTCTCCTCGAAGATCTGGA	0.577																																						ENST00000292450.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(361-363)Gaa>Aaa		zinc finger and SCAN domain containing 21							32.0	31.0	31.0					7																	99654990		2203	4299	6502	SO:0001583	missense	7589	0	0					g.chr7:99654990G>A	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.361G>A	chr7.hg19:g.99654990G>A	ENSP00000292450:p.Glu121Lys	0					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	p.E121K	NM_145914.2	NP_666019.1	1	2	3	2.000345	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	2	525	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	1	1	hg19	c.361G>A	CCDS5681.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419351	0.83559	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.77	4.77	0.60923	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34314	N	0.004062	T	0.45935	0.1367	H	0.95745	3.715	0.39713	D	0.971369	P;D	0.89917	0.883;1.0	P;D	0.85130	0.574;0.997	T	0.63363	-0.6654	10	0.87932	D	0	.	15.6623	0.77197	0.0:0.0:1.0:0.0	.	121;121	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	121;121;121;121;96	ENSP00000441212:E121K;ENSP00000292450:E121K;ENSP00000390960:E121K;ENSP00000404207:E121K	ENSP00000292450:E121K	E	+	1	0	0	ZSCAN21	99492926	99492926	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	3.377000	0.52425	2.634000	0.89283	0.655000	0.94253	GAA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_145914			60	58		196	193	1		1	1		0	0	50	0		1	9.894712e-01	0	4	0	22	0	60	196
ZNF3	7551	broad.mit.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	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	232					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.E232K(1)		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)			TTCCCACACTCATTACATTCA	0.433																																						ENST00000424697.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E232K(1)	kidney(1)	25						c.(694-696)Gag>Aag		zinc finger protein 3							76.0	85.0	82.0					7																	99669413		2203	4300	6503	SO:0001583	missense	7551	0	0					g.chr7:99669413C>T	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.694G>A	chr7.hg19:g.99669413C>T	ENSP00000415358:p.Glu232Lys	0					ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron	p.E232K	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	1	2	3	2.000345	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	6	1000	-	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)	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	1	1	hg19	c.694G>A	CCDS43619.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	0	ZNF3	99507349	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-3.396061	1	0.170000	NM_017715			83	80		340	332	1		1	1		0	0	98	0		1	9.981230e-01	0	10	0	31	0	83	340
ZNF3	7551	broad.mit.edu	37	7	99669525	99669525	+	Silent	SNP	G	G	A	rs189904128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000424697.1	-	6	888	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Silent_p.P194P	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	194					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)			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)			TGTCTCCCACGGGGAGTCTCT	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21510	0.0		0.0	False		,,,				2504	0.0					ENST00000424697.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(580-582)ccC>ccT		zinc finger protein 3		G	,	0,4182		0,0,2091	95.0	100.0	98.0		,582	-3.6	0.9	7		98	1,8483		0,1,4241	no	intron,coding-synonymous	ZNF3	NM_017715.2,NM_032924.3	,	0,1,6332	AA,AG,GG		0.0118,0.0,0.0079	,	,194/447	99669525	1,12665	2091	4242	6333	SO:0001819	synonymous_variant	7551	7	121052	42				g.chr7:99669525G>A	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.582C>T	chr7.hg19:g.99669525G>A		0					ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron	p.P194P	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	1	2	3	2.000345	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	6	888	-	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)	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	1	1	hg19	c.582C>T	CCDS43619.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-2.979038	1	0.170000	NM_017715			124	118		452	443	1		1	1		0	0	105	0		1	9.999847e-01	0	11	0	49	0	124	452
ZNF3	7551	broad.mit.edu	37	7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A	rs199856343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000424697.1	-	6	722	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	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	139					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)			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)			GTTCCCCAGCGGCCTTTTCAG	0.478																																						ENST00000424697.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(415-417)cCg>cTg		zinc finger protein 3		G	,LEU/PRO	0,3662		0,0,1831	108.0	102.0	104.0		,416	3.4	1.0	7		104	4,8158		0,4,4077	yes	intron,missense	ZNF3	NM_017715.2,NM_032924.3	,98	0,4,5908	AA,AG,GG		0.049,0.0,0.0338	,benign	,139/447	99669691	4,11820	1831	4081	5912	SO:0001583	missense	7551	10	120844	44				g.chr7:99669691G>A	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.416C>T	chr7.hg19:g.99669691G>A	ENSP00000415358:p.Pro139Leu	0					ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron	p.P139L	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	1	2	3	2.000345	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	6	722	-	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)	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	1	1	hg19	c.416C>T	CCDS43619.1	1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007373	0.02112	0.0	4.9E-4	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;5.18;5.32;5.32	4.58	3.43	0.39272	4.58	3.43	0.39272	.	0.418084	0.20469	N	0.091721	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.38643	T	0.18	-8.6936	9.6919	0.40134	0.0:0.0:0.1853:0.8147	.	122;139	B3KRP4;P17036	.;ZNF3_HUMAN	L	139;139;139;103;139;139	ENSP00000415358:P139L;ENSP00000306372:P139L;ENSP00000299667:P139L;ENSP00000416088:P103L;ENSP00000405970:P139L;ENSP00000388042:P139L	ENSP00000299667:P139L	P	-	2	0	0	ZNF3	99507627	99507627	0.000000	0.05858	0.969000	0.41365	0.192000	0.23643	0.767000	0.26575	0.911000	0.36747	-0.500000	0.04577	CCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-2.876240	1	0.170000	NM_017715			109	108		508	497	1		1	1		0	0	117	0		1	9.999740e-01	0	23	0	49	0	109	508
COPS6	10980	broad.mit.edu	37	7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	223	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577																																						ENST00000303904.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(667-669)Gca>Tca		COP9 signalosome subunit 6							212.0	196.0	201.0					7																	99688878		2203	4300	6503	SO:0001583	missense	10980	0	0					g.chr7:99688878G>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.667G>T	chr7.hg19:g.99688878G>T	ENSP00000304102:p.Ala223Ser	0					MIR106B_ENST00000385301.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.A222S|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA	p.A223S	NM_006833.4	NP_006824.2	1	2	3	2.000345	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	8	704	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	1	1	hg19	c.667G>T	CCDS5682.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657380	0.67586	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.56124	1.755	0.80722	D	1	P	0.41498	0.752	P	0.46452	0.517	T	0.19353	-1.0308	10	0.10377	T	0.69	-24.5327	15.6886	0.77430	0.0:0.0:1.0:0.0	.	223	Q7L5N1	CSN6_HUMAN	S	223;222	ENSP00000304102:A223S;ENSP00000400617:A222S	ENSP00000304102:A223S	A	+	1	0	0	COPS6	99526814	99526814	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.430000	0.90283	2.556000	0.86216	0.561000	0.74099	GCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	1	0	1		2	2	2	0		0	0	268		268	243	1	2.060000	-20.000000	1	0.170000	NM_006833			193	187		990	888	1		1	1		0	0	268	0		1	1	0	164	0	464	0	193	990
MCM7	4176	broad.mit.edu	37	7	99691794	99691794	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MCM7_ENST00000354230.3_Splice_Site|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						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)			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)					TTGGGCACTTACCAGAGCAGT	0.587																																						ENST00000303887.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.e13+1		minichromosome maintenance complex component 7							97.0	94.0	95.0					7																	99691794		2203	4300	6503	SO:0001630	splice_region_variant	4176	0	0					g.chr7:99691794A>T		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.1848+1T>A	chr7.hg19:g.99691794A>T		0					MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Splice_Site		NM_005916.3	NP_005907.3	1	2	3	2.000345	P33993	MCM7_HUMAN		13	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Splice_Site	SNP	ENST00000303887.5	1	1	hg19		CCDS5683.1	1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905618	0.33628	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.21	4.02	0.46733	5.21	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.9138:0.0:0.0862:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MCM7	99529730	99529730	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.466000	0.66731	2.193000	0.70182	0.459000	0.35465	.	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000		Intron		103	101		536	525	1		1	1		0	0	113	0		1	7.085800e-02	0	2	0	1	0	103	536
TAF6	6878	broad.mit.edu	37	7	99704934	99704934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99704934C>A	ENST00000344095.4	-	15	2494	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	657					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCTGGAGCTGGAGGGGGA	0.667																																						ENST00000344095.4	1.000000	0.190000	5.800000e-01	2.800000e-01	0.400000	0.448092	0.400000	0.370000																										0				26						c.(1969-1971)Gct>Tct		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							28.0	35.0	33.0					7																	99704934		2200	4290	6490	SO:0001583	missense	6878	0	0					g.chr7:99704934C>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1969G>T	chr7.hg19:g.99704934C>A	ENSP00000344537:p.Ala657Ser	0					TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S	p.A657S	NM_005641.3	NP_005632.1	1	2	3	2.000345	P49848	TAF6_HUMAN		15	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	1	1	hg19	c.1969G>T	CCDS5686.1	0	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699128	0.68501	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.52526	0.74;0.66;0.74;0.74;0.69	5.52	4.64	0.57946	5.52	4.64	0.57946	.	0.000000	0.49305	D	0.000145	T	0.26629	0.0651	N	0.08118	0	0.27046	N	0.963891	B;B;B;B;B	0.30914	0.3;0.201;0.127;0.127;0.127	B;B;B;B;B	0.32211	0.067;0.142;0.039;0.039;0.067	T	0.15896	-1.0421	10	0.25106	T	0.35	-19.4876	10.343	0.43891	0.0:0.9118:0.0:0.0882	.	694;647;647;657;581	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	S	657;714;657;657;581;694	ENSP00000389575:A657S;ENSP00000419760:A714S;ENSP00000416396:A657S;ENSP00000344537:A657S;ENSP00000399982:A694S	ENSP00000344537:A657S	A	-	1	0	0	TAF6	99542870	99542870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.569000	0.49696	0.643000	0.83706	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-10.641960	1	0.170000	NM_005641			9	10		269	267	0		1	1		0	0	42	0		9.943349e-01	9.694833e-01	0	9	0	171	0	9	269
C7orf43	55262	broad.mit.edu	37	7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	367								p.R367H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557																																						ENST00000316937.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R367H(1)	endometrium(1)	10						c.(1099-1101)cGc>cAc		chromosome 7 open reading frame 43							76.0	74.0	75.0					7																	99754149		2203	4300	6503	SO:0001583	missense	55262	0	0					g.chr7:99754149C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1100G>A	chr7.hg19:g.99754149C>T	ENSP00000324741:p.Arg367His	0					C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	p.R367H	NM_018275.3	NP_060745.3	1	2	3	2.000345	Q8WVR3	CG043_HUMAN		8	1285	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	1	1	hg19	c.1100G>A	CCDS5687.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833326	0.71258	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.55760	0.54;0.5;0.53	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.071085	0.56097	D	0.000030	T	0.53997	0.1831	N	0.19112	0.55	0.45676	D	0.998596	D;D	0.69078	0.991;0.997	P;P	0.55391	0.662;0.775	T	0.59144	-0.7509	10	0.87932	D	0	-17.2422	17.3306	0.87262	0.0:1.0:0.0:0.0	.	135;367	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	98;367;135	ENSP00000396432:R98H;ENSP00000324741:R367H;ENSP00000406326:R135H	ENSP00000324741:R367H	R	-	2	0	0	C7orf43	99592085	99592085	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.133000	0.64764	2.702000	0.92279	0.561000	0.74099	CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_018275			41	36		139	138	1		1	1		0	0	27	0		1	9.999845e-01	0	16	0	46	0	41	139
C7orf43	55262	broad.mit.edu	37	7	99754543	99754543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	306										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCATTCAGCGGGCAGGGGA	0.612																																						ENST00000316937.3	1.000000	0.240000	5.400000e-01	3.200000e-01	0.410000	0.450573	0.410000	0.390000																										0				10						c.(916-918)ccG>ccA		chromosome 7 open reading frame 43							56.0	67.0	63.0					7																	99754543		2203	4300	6503	SO:0001819	synonymous_variant	55262	3	121412	39				g.chr7:99754543C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.918G>A	chr7.hg19:g.99754543C>T		0					C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	p.P306P	NM_018275.3	NP_060745.3	1	2	3	2.000345	Q8WVR3	CG043_HUMAN		6	1103	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	1	1	hg19	c.918G>A	CCDS5687.1	0	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965655	0.18583	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	-8.24	0.01029	5.58	-8.24	0.01029	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-6.2269	8.0696	0.30680	0.2449:0.5458:0.0:0.2093	.	.	.	.	T	212	.	.	A	-	1	0	0	C7orf43	99592479	99592479	0.002000	0.14202	0.911000	0.35937	0.837000	0.47467	-1.707000	0.01893	-0.841000	0.04200	-0.487000	0.04747	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	0	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.044780	1	0.170000	NM_018275			18	18		513	505	0		1	0		0	0	108	0		9.999798e-01	5.049911e-01	0	1	0	47	0	18	513
GAL3ST4	79690	broad.mit.edu	37	7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T	rs201871972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	GAL3ST4_ENST00000423751.1_Silent_p.S206S|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000411994.1_Silent_p.S206S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	308					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557																																						ENST00000360039.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(922-924)Gat>Aat		galactose-3-O-sulfotransferase 4							102.0	95.0	97.0					7																	99758090		2203	4300	6503	SO:0001583	missense	79690	14	121412	46				g.chr7:99758090C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.922G>A	chr7.hg19:g.99758090C>T	ENSP00000353142:p.Asp308Asn	0					C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000423751.1_Silent_p.S206S|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|GAL3ST4_ENST00000411994.1_Silent_p.S206S	p.D308N	NM_024637.4	NP_078913.3	1	2	3	2.000345	Q96RP7	G3ST4_HUMAN		4	1314	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	1	1	hg19	c.922G>A	CCDS5688.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922195	0.92319	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.26518	1.73;1.73;1.73	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	U	0.000000	T	0.51770	0.1694	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	T	0.55535	-0.8126	10	0.62326	D	0.03	-9.5784	15.4362	0.75149	0.0:1.0:0.0:0.0	.	246;308	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	308;308;246	ENSP00000400451:D308N;ENSP00000353142:D308N;ENSP00000398304:D246N	ENSP00000353142:D308N	D	-	1	0	0	GAL3ST4	99596026	99596026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.518000	0.84900	0.511000	0.50034	GAT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-3.077831	1	0.170000	NM_024637			131	124		550	540	1		1	1		0	0	149	0		1	9.999998e-01	0	8	0	84	0	131	550
STAG3	10734	broad.mit.edu	37	7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	210					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)				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)					CTCTATGATGGCTTCCCTATG	0.542																																						ENST00000426455.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				66						c.(628-630)gGc>gAc		stromal antigen 3							132.0	124.0	127.0					7																	99786553		2203	4300	6503	SO:0001583	missense	10734	0	0					g.chr7:99786553G>A	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.629G>A	chr7.hg19:g.99786553G>A	ENSP00000400359:p.Gly210Asp	0					STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	p.G210D	NM_001282716.1	NP_001269645.1	1	2	3	2.000345	Q9UJ98	STAG3_HUMAN		7	1036	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	1	1	hg19	c.629G>A	CCDS34703.1	1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748218	0.49257	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296;ENST00000439782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.31	4.35	0.52113	5.31	4.35	0.52113	STAG (1);	0.389572	0.22016	N	0.065798	T	0.17874	0.0429	N	0.02865	-0.47	0.42558	D	0.993133	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.008	T	0.08597	-1.0714	10	0.38643	T	0.18	-14.851	6.3818	0.21540	0.1895:0.0:0.8105:0.0	.	152;210	B4DZ10;Q9UJ98	.;STAG3_HUMAN	D	210;152;210;152	ENSP00000400359:G210D;ENSP00000377586:G152D;ENSP00000319318:G210D;ENSP00000397067:G152D	ENSP00000319318:G210D	G	+	2	0	0	STAG3	99624489	99624489	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.081000	0.71309	2.765000	0.95021	0.555000	0.69702	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	0	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_012447			127	126		455	441	1		1			0	0	95	0		1	0	0	0	0	0	0	127	455
STAG3	10734	broad.mit.edu	37	7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1219					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)				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)					AGATTCTACAGAGCTGGATAT	0.493																																						ENST00000426455.1	1.000000	0.400000	7.500000e-01	4.900000e-01	0.600000	0.632845	0.600000	0.590000																										0				66						c.(3655-3657)Gag>Aag		stromal antigen 3							122.0	115.0	117.0					7																	99811415		2203	4300	6503	SO:0001583	missense	10734	0	0					g.chr7:99811415G>A	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.3655G>A	chr7.hg19:g.99811415G>A	ENSP00000400359:p.Glu1219Lys	0					GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K	p.E1219K	NM_001282716.1	NP_001269645.1	1	2	3	2.000345	Q9UJ98	STAG3_HUMAN		33	4062	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	1	1	hg19	c.3655G>A	CCDS34703.1	0	.	.	.	.	.	.	.	.	.	.	g	24.8	4.576279	0.86645	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.39544	N	0.001340	T	0.45316	0.1336	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.16719	-1.0393	10	0.44086	T	0.13	-20.6421	13.9825	0.64313	0.0:0.0:1.0:0.0	.	1161;1220;1219	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1219;1161;882;240;1219;178	ENSP00000400359:E1219K;ENSP00000377586:E1161K;ENSP00000319318:E1219K;ENSP00000395039:E178K	ENSP00000319318:E1219K	E	+	1	0	0	STAG3	99649351	99649351	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.980000	0.56895	2.741000	0.93983	0.655000	0.94253	GAG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	1	0	1		2	2	2	0		0	0	96		96	94	1	2.060000	-3.215742	1	0.170000	NM_012447			26	26		490	483	0		1	0		0	0	96	0		9.999999e-01	9.408591e-02	0	1	0	9	0	26	490
SPDYE3	441272	broad.mit.edu	37	7	99909548	99909548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572																																						ENST00000332397.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(718-720)tcG>tcA		speedy/RINGO cell cycle regulator family member E3							6.0	7.0	7.0					7																	99909548		1180	3211	4391	SO:0001819	synonymous_variant	441272	6	95806	27				g.chr7:99909548G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.720G>A	chr7.hg19:g.99909548G>A		0					SPDYE3_ENST00000437326.2_5'UTR	p.S240S	NM_001004351.4	NP_001004351.3	1	2	3	2.000345	A6NKU9	SPDE3_HUMAN		4	904	+			Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	0	1	hg19	c.720G>A	CCDS47658.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	1	0	1		2	2	2	0		0	0	45		45	104	1	2.060000	-3.415226	1	0.170000	NM_001004351			54	9		206	24	0		1			0	0	45	0		9.941100e-01	0	0	0	0	0	0	54	206
PILRB	29990	broad.mit.edu	37	7	99957138	99957138	+	Silent	SNP	C	C	T	rs369458364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000452089.1	+	8	1692	c.633C>T	c.(631-633)ctC>ctT	p.L211L	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|PILRB_ENST00000609309.1_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	211					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)				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)					GCCTCCTCCTCCTGTGGTGGA	0.547																																						ENST00000452089.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(631-633)ctC>ctT		paired immunoglobin-like type 2 receptor beta		C		1,4403	2.1+/-5.4	0,1,2201	76.0	83.0	80.0		633		0.1	7		80	0,8600		0,0,4300	no	coding-synonymous	PILRB	NM_178238.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		211/228	99957138	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	29990	0	0					g.chr7:99957138C>T	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.633C>T	chr7.hg19:g.99957138C>T		0					PILRB_ENST00000609309.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S|PILRB_ENST00000444073.1_Silent_p.L211L	p.L211L			1	2	3	2.000345	Q9UKJ0	PILRB_HUMAN		8	1692	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	1	1	hg19	c.633C>T	CCDS43622.1	1	.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506765	0.04231	2.27E-4	0.0	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	S	142;264	.	.	P	+	1	0	0	PILRB	99795074	99795074	0.095000	0.21747	0.062000	0.19696	0.007000	0.05969	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-3.099491	1	0.170000	NM_178238			58	57		243	238	1		1	1		0	0	42	0		1	9.815172e-01	0	12	0	17	0	58	243
PILRA	29992	broad.mit.edu	37	7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000394000.2_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000453419.1_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	21					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)					TTTCTGCAGCCTAGTGAGTAC	0.647																																						ENST00000198536.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(61-63)cCt>cAt		paired immunoglobin-like type 2 receptor alpha							57.0	62.0	60.0					7																	99971341		2203	4300	6503	SO:0001583	missense	29992	0	0					g.chr7:99971341C>A	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.62C>A	chr7.hg19:g.99971341C>A	ENSP00000198536:p.Pro21His	0					PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H	p.P21H	NM_013439.2	NP_038467.2	1	2	3	2.000345	Q9UKJ1	PILRA_HUMAN		1	274	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	1	1	hg19	c.62C>A	CCDS5691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222284	0.39300	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23348	1.93;2.23;2.23;1.91;2.26	3.65	0.63	0.17693	3.65	0.63	0.17693	Immunoglobulin-like (1);	1.274000	0.05643	N	0.583869	T	0.27594	0.0678	N	0.14661	0.345	0.09310	N	1	P;D;D;D;P	0.71674	0.553;0.994;0.986;0.998;0.688	B;P;P;P;B	0.61940	0.094;0.669;0.895;0.896;0.094	T	0.28490	-1.0042	9	.	.	.	.	5.8473	0.18673	0.3885:0.4221:0.1894:0.0	.	21;21;21;21;21	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	H	21	ENSP00000415111:P21H;ENSP00000198536:P21H;ENSP00000390026:P21H;ENSP00000377569:P21H;ENSP00000340109:P21H	.	P	+	2	0	0	PILRA	99809277	99809277	0.000000	0.05858	0.037000	0.18230	0.003000	0.03518	-0.635000	0.05471	0.123000	0.18342	0.313000	0.20887	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	1	0	1		2	2	2	0		0	0	103		103	102	1	2.060000	-3.230397	1	0.170000	NM_013439			83	81		425	418	1		1	0		0	0	103	0		1	1	0	0	0	130	0	83	425
VIPR2	7434	broad.mit.edu	37	7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P|VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	140					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)			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)		GTTGCAAGAGACATCAGAGAG	0.408																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(418-420)Tct>Cct		vasoactive intestinal peptide receptor 2							169.0	163.0	165.0					7																	158851209		2203	4300	6503	SO:0001583	missense	7434	0	0					g.chr7:158851209A>G	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.418T>C	chr7.hg19:g.158851209A>G	ENSP00000262178:p.Ser140Pro	0					VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	p.S140P	NM_003382.4	NP_003373.2	0	0	0	1.922693	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	5	603	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	1	1	hg19	c.418T>C	CCDS5950.1	1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.050923	0.75960	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.7	4.59	0.56863	5.7	4.59	0.56863	GPCR, family 2-like (1);	0.122369	0.36066	N	0.002805	T	0.49047	0.1534	M	0.89968	3.075	0.80722	D	1	P	0.45078	0.85	P	0.45506	0.483	T	0.57974	-0.7718	9	.	.	.	.	8.8834	0.35389	0.7551:0.2449:0.0:0.0	.	140	P41587	VIPR2_HUMAN	P	140;124;281	ENSP00000262178:S140P;ENSP00000366860:S124P;ENSP00000384497:S281P	.	S	-	1	0	0	VIPR2	158543970	158543970	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	2.922000	0.48860	2.175000	0.68902	0.529000	0.55759	TCT	1.377519e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	1	0	1		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_003382			105	105		528	517	1		1	0		0	0	117	0		1	0	0	0	0	1	0	105	528
VPS13B	157680	broad.mit.edu	37	8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000358544.2	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	495					protein transport (GO:0015031)					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)			ACATACCTTACAAATTCATTG	0.328																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				193						c.(1483-1485)aCa>aTa		vacuolar protein sorting 13 homolog B (yeast)							137.0	121.0	126.0					8																	100147882		2202	4300	6502	SO:0001583	missense	157680	0	0					g.chr8:100147882C>T	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.1484C>T	chr8.hg19:g.100147882C>T	ENSP00000351346:p.Thr495Ile	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I	p.T495I	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	11	1595	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	1	1	hg19	c.1484C>T	CCDS6280.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231371	0.79688	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78364	-1.17;-0.46;-0.46;-0.17	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.83229	0.5209	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.998;0.974	D	0.84951	0.0871	10	0.72032	D	0.01	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	495;495;495;495	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	I	495	ENSP00000347281:T495I;ENSP00000349685:T495I;ENSP00000351346:T495I;ENSP00000379318:T495I	ENSP00000347281:T495I	T	+	2	0	0	VPS13B	100217058	100217058	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.204000	0.77872	2.663000	0.90544	0.655000	0.94253	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-19.997160	1	0.170000	NM_184042			37	36		162	156	1		1	1		0	0	51	0		1	8.676144e-01	0	5	0	13	0	37	162
VPS13B	157680	broad.mit.edu	37	8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000358544.2	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N|VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	862					protein transport (GO:0015031)					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)			AAGTACTGCAGCACATCATTG	0.433																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				193						c.(2584-2586)aGc>aAc		vacuolar protein sorting 13 homolog B (yeast)							112.0	117.0	115.0					8																	100286495		2203	4300	6503	SO:0001583	missense	157680	0	0					g.chr8:100286495G>A	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.2585G>A	chr8.hg19:g.100286495G>A	ENSP00000351346:p.Ser862Asn	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N|VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N	p.S862N	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	18	2696	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	1	1	hg19	c.2585G>A	CCDS6280.1	1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918911	0.73098	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.057164	0.64402	D	0.000001	T	0.76737	0.4029	L	0.32530	0.975	0.51012	D	0.999903	D;B;B;D	0.67145	0.996;0.211;0.134;0.996	P;B;B;P	0.61070	0.883;0.13;0.061;0.883	T	0.76929	-0.2777	10	0.54805	T	0.06	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	862;862;862;862	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	862	ENSP00000349685:S862N;ENSP00000351346:S862N;ENSP00000379318:S862N	ENSP00000349685:S862N	S	+	2	0	0	VPS13B	100355671	100355671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.826000	0.97356	0.563000	0.77884	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-20.000000	1	0.170000	NM_184042			106	104		499	493	1		1	1		0	0	139	0		1	8.856723e-01	0	4	0	16	0	106	499
VPS13B	157680	broad.mit.edu	37	8	100454751	100454751	+	Silent	SNP	G	G	A	rs367791771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100454751G>A	ENST00000358544.2	+	23	3444	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	VPS13B_ENST00000395996.1_Silent_p.P1111P|VPS13B_ENST00000357162.2_Silent_p.P1111P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1111					protein transport (GO:0015031)					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)			CCAGCATGCCGGGAACACTTG	0.443																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	0.410000	0.100000	3.200000e-01	1.600000e-01	0.230000	0.245980	0.230000	0.220000																										0				193						c.(3331-3333)ccG>ccA		vacuolar protein sorting 13 homolog B (yeast)		G	,	0,4406		0,0,2203	142.0	132.0	135.0		3333,3333	-1.0	1.0	8		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1111/4023,1111/3998	100454751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157680	7	121406	41				g.chr8:100454751G>A	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.3333G>A	chr8.hg19:g.100454751G>A		0					VPS13B_ENST00000357162.2_Silent_p.P1111P|VPS13B_ENST00000395996.1_Silent_p.P1111P	p.P1111P	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	23	3444	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	0	1	hg19	c.3333G>A	CCDS6280.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.347163	0	0.170000	NM_184042			8	8		410	406	0		1	0		0	0	76	0		9.890989e-01	1.106653e-01	0	0	0	26	0	8	410
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport (GO:0015031)			p.D1440H(1)|p.D1415H(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)			AAAACTTCTAGATGGCACTCA	0.348																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.D1440H(1)|p.D1415H(1)	lung(2)	193						c.(4318-4320)Gat>Aat		vacuolar protein sorting 13 homolog B (yeast)							76.0	79.0	78.0					8																	100523350		2203	4300	6503	SO:0001583	missense	157680	0	0					g.chr8:100523350G>A	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.4318G>A	chr8.hg19:g.100523350G>A	ENSP00000351346:p.Asp1440Asn	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N|VPS13B_ENST00000395996.1_3'UTR	p.D1440N	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	29	4429	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	1	1	hg19	c.4318G>A	CCDS6280.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548074	0.65311	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.51398	0.1672	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56746	0.977;0.873;0.877	P;P;P	0.54499	0.754;0.599;0.494	T	0.51204	-0.8735	10	0.62326	D	0.03	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	N	1415;1440	ENSP00000349685:D1415N;ENSP00000351346:D1440N	ENSP00000349685:D1415N	D	+	1	0	0	VPS13B	100592526	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_184042			68	68		342	333	1		1	1		0	0	81	0		1	9.557419e-01	0	7	0	21	0	68	342
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport (GO:0015031)					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)			AGCATACGGCGGCATCAAGAA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				193						c.(5032-5034)cGg>cAg		vacuolar protein sorting 13 homolog B (yeast)							76.0	77.0	77.0					8																	100587894		2203	4300	6503	SO:0001583	missense	157680	3	121412	34				g.chr8:100587894G>A	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.5033G>A	chr8.hg19:g.100587894G>A	ENSP00000351346:p.Arg1678Gln	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	p.R1678Q	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	32	5144	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	1	1	hg19	c.5033G>A	CCDS6280.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	0|0	VPS13B|VPS13B	100657070|100657070	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-2.800739	1	0.170000	NM_184042			46	46		210	208	1		1	1		0	0	45	0		1	9.907341e-01	0	7	0	29	0	46	210
MSRA	4482	broad.mit.edu	37	8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000317173.4	+	3	535	c.286G>A	c.(286-288)Gca>Aca	p.A96T	MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000518255.1_Missense_Mutation_p.A96T	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	96					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000317173.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(286-288)Gca>Aca		methionine sulfoxide reductase A	L-Methionine(DB00134)						103.0	107.0	106.0					8																	10102688		2203	4300	6503	SO:0001583	missense	4482	0	0					g.chr8:10102688G>A	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.286G>A	chr8.hg19:g.10102688G>A	ENSP00000313921:p.Ala96Thr	0					MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T	p.A96T	NM_012331.3	NP_036463.1	0	0	0	1.973482	Q9UJ68	MSRA_HUMAN		3	535	+		Myeloproliferative disorder(644;0.178)	E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	1	1	hg19	c.286G>A	CCDS5975.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520417	0.85495	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.130128	0.53938	D	0.000051	T	0.66925	0.2839	L	0.46947	1.48	0.48395	D	0.999646	D;P;D	0.61697	0.99;0.955;0.977	D;P;P	0.65323	0.934;0.791;0.867	T	0.64166	-0.6471	8	.	.	.	-22.8028	13.3246	0.60452	0.0:0.0:0.842:0.158	.	53;53;96	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	T	96;96;30;30;30;53	.	.	A	+	1	0	0	MSRA	10140098	10140098	1.000000	0.71417	0.846000	0.33378	0.998000	0.95712	4.700000	0.61803	2.675000	0.91044	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_012331			71	72		411	404	1		1	1		0	0	80	0		1	9.998075e-01	0	20	0	54	0	71	411
VPS13B	157680	broad.mit.edu	37	8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A	rs200065297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2461					protein transport (GO:0015031)					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)			TCCAACAGCCCTGGCTGCCTG	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.990484	0.990000	1.000000																										0				193						c.(7381-7383)Ctg>Atg		vacuolar protein sorting 13 homolog B (yeast)							212.0	171.0	185.0					8																	100789061		2203	4300	6503	SO:0001583	missense	157680	0	0					g.chr8:100789061C>A	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.7381C>A	chr8.hg19:g.100789061C>A	ENSP00000351346:p.Leu2461Met	0					VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M|VPS13B_ENST00000395996.1_3'UTR	p.L2461M	NM_017890.4	NP_060360.3	0	0	0	1.973482	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	41	7492	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	1	1	hg19	c.7381C>A	CCDS6280.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653464	0.67472	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85556	-1.99;-2.0	5.52	4.64	0.57946	5.52	4.64	0.57946	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89445	0.3726	10	0.72032	D	0.01	.	8.0438	0.30536	0.0:0.778:0.0:0.222	.	2436;2461	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2436;2461	ENSP00000349685:L2436M;ENSP00000351346:L2461M	ENSP00000349685:L2436M	L	+	1	2	2	VPS13B	100858237	100858237	0.679000	0.27596	1.000000	0.80357	0.998000	0.95712	0.751000	0.26348	2.583000	0.87209	0.650000	0.86243	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.017764	1	0.170000	NM_184042			66	65		614	606	1		1	1		0	0	114	0		1	9.006666e-01	0	5	0	34	0	66	614
FBXO43	286151	broad.mit.edu	37	8	101146101	101146101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101146101C>T	ENST00000428847.2	-	5	2372	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	686					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)			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)			CTTGGCTTTGCTGCTCCTCTA	0.443																																						ENST00000428847.2	0.700000	0.280000	5.900000e-01	3.700000e-01	0.460000	0.484016	0.460000	0.460000																										0				31						c.(2056-2058)Gca>Aca		F-box protein 43							135.0	130.0	131.0					8																	101146101		1925	4132	6057	SO:0001583	missense	286151	0	0					g.chr8:101146101C>T	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.2056G>A	chr8.hg19:g.101146101C>T	ENSP00000403293:p.Ala686Thr	0						p.A686T	NM_001029860.3	NP_001025031.2	0	0	0	1.973482	Q4G163	FBX43_HUMAN	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)	5	2372	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)			Missense_Mutation	SNP	ENST00000428847.2	1	1	hg19	c.2056G>A	CCDS47904.1	0	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442314	0.43326	.	.	ENSG00000156509	ENST00000428847	T	0.34072	1.38	5.15	3.28	0.37604	5.15	3.28	0.37604	.	0.347019	0.29362	N	0.012376	T	0.27559	0.0677	L	0.54323	1.7	0.37515	D	0.917302	B	0.23540	0.087	B	0.17433	0.018	T	0.11397	-1.0589	10	0.21014	T	0.42	-5.4613	5.6701	0.17717	0.1365:0.6218:0.0:0.2417	.	686	Q4G163	FBX43_HUMAN	T	686	ENSP00000403293:A686T	ENSP00000403293:A686T	A	-	1	0	0	FBXO43	101215277	101215277	0.961000	0.32948	1.000000	0.80357	0.987000	0.75469	0.589000	0.23939	0.616000	0.30141	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-3.149146	1	0.170000	XM_209918			18	18		431	425	0		1	0		0	0	75	0		9.999806e-01	1.864097e-03	0	0	0	2	0	18	431
SPAG1	6674	broad.mit.edu	37	8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	136					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGTTCAAACAGCTGTCTTCAT	0.388																																						ENST00000388798.2	1.000000	0.670000	1	8.100000e-01	0.970000	0.925501	0.970000	1.000000																										0				30						c.(406-408)aGc>aAc		sperm associated antigen 1							120.0	119.0	119.0					8																	101190150		2203	4300	6503	SO:0001583	missense	6674	0	0					g.chr8:101190150G>A	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.407G>A	chr8.hg19:g.101190150G>A	ENSP00000373450:p.Ser136Asn	0					SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N	p.S136N	NM_003114.4	NP_003105.2	0	0	0	1.973482	Q07617	SPAG1_HUMAN	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)	4	598	+	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)	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	1	1	hg19	c.407G>A	CCDS34930.1	1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741393	0.15642	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.47	2.67	0.31697	4.47	2.67	0.31697	.	0.713412	0.13896	N	0.355225	T	0.16896	0.0406	M	0.75264	2.295	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.005;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	-3.0269	6.9275	0.24424	0.2093:0.0:0.7907:0.0	.	136;136	Q07617;G3XAM3	SPAG1_HUMAN;.	N	136	ENSP00000427716:S136N;ENSP00000251809:S136N;ENSP00000428070:S136N;ENSP00000373450:S136N	ENSP00000251809:S136N	S	+	2	0	0	SPAG1	101259326	101259326	0.005000	0.15991	0.018000	0.16275	0.787000	0.44495	1.243000	0.32767	0.621000	0.30232	0.591000	0.81541	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-9.689458	1	0.170000	NM_172218			30	28		328	321	0		1	0		0	0	72	0		1	4.039824e-01	0	1	0	15	0	30	328
SPAG1	6674	broad.mit.edu	37	8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	189					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264																																						ENST00000388798.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(565-567)Tct>Cct		sperm associated antigen 1							50.0	51.0	51.0					8																	101196260		2202	4291	6493	SO:0001583	missense	6674	0	0					g.chr8:101196260T>C	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.565T>C	chr8.hg19:g.101196260T>C	ENSP00000373450:p.Ser189Pro	0					SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P	p.S189P	NM_003114.4	NP_003105.2	0	0	0	1.973482	Q07617	SPAG1_HUMAN	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)	6	756	+	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)	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	1	1	hg19	c.565T>C	CCDS34930.1	1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547190	0.27652	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.66	4.53	0.55603	5.66	4.53	0.55603	.	2.230900	0.01467	N	0.016126	T	0.19005	0.0456	L	0.53249	1.67	0.33878	D	0.635808	B;B	0.15930	0.007;0.015	B;B	0.16289	0.007;0.015	T	0.46978	-0.9152	10	0.26408	T	0.33	-21.5674	3.8289	0.08865	0.0:0.2901:0.0:0.7099	.	189;189	Q07617;G3XAM3	SPAG1_HUMAN;.	P	189	ENSP00000427716:S189P;ENSP00000251809:S189P;ENSP00000428070:S189P;ENSP00000373450:S189P	ENSP00000251809:S189P	S	+	1	0	0	SPAG1	101265436	101265436	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.713000	0.47194	2.153000	0.67306	0.459000	0.35465	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.264	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.999980	1	0.170000	NM_172218			39	37		149	145	1		1	1		0	0	57	0		1	9.543066e-01	0	5	0	17	0	39	149
RNF19A	25897	broad.mit.edu	37	8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	641					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)			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)			CTTCGGGTGGCACTGCCATCA	0.478											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519449.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1921-1923)Gcc>Acc		ring finger protein 19A, RBR E3 ubiquitin protein ligase							132.0	114.0	120.0					8																	101271380		2203	4300	6503	SO:0001583	missense	25897	0	0					g.chr8:101271380C>T	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.1921G>A	chr8.hg19:g.101271380C>T	ENSP00000428968:p.Ala641Thr	0		OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	p.A641T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	0	0	0	1.973482	Q9NV58	RN19A_HUMAN	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)	11	2237	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	1	1	hg19	c.1921G>A	CCDS6286.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195037	0.78902	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	2.54	0.30619	5.74	2.54	0.30619	.	0.433072	0.26692	N	0.022992	T	0.78155	0.4239	L	0.36672	1.1	0.09310	N	0.999993	B	0.13594	0.008	B	0.16722	0.016	T	0.69206	-0.5206	10	0.52906	T	0.07	.	12.1983	0.54311	0.0:0.7788:0.0:0.2212	.	641	Q9NV58	RN19A_HUMAN	T	641	ENSP00000428968:A641T;ENSP00000342667:A641T	ENSP00000342667:A641T	A	-	1	0	0	RNF19A	101340556	101340556	1.000000	0.71417	0.084000	0.20598	0.800000	0.45204	2.623000	0.46435	0.778000	0.33520	0.585000	0.79938	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000	NM_015435			124	119		511	502	1		1	1		0	0	123	0		1	1	0	21	0	90	0	124	511
ANKRD46	157567	broad.mit.edu	37	8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520552.1	-	3	252	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000520311.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	31						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458																																						ENST00000520552.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(91-93)Ctt>Ttt		ankyrin repeat domain 46							84.0	78.0	80.0					8																	101541971		2203	4300	6503	SO:0001583	missense	157567	0	0					g.chr8:101541971G>A	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.91C>T	chr8.hg19:g.101541971G>A	ENSP00000429015:p.Leu31Phe	0					ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000520311.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F	p.L31F	NM_001270379.1	NP_001257308.1	0	0	0	1.973482	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)	3	252	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	1	1	hg19	c.91C>T	CCDS59109.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.222509	0.95139	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-0.29;-0.29	5.6	5.6	0.85130	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.81914	0.934;0.995	D	0.90341	0.4359	10	0.72032	D	0.01	-18.5285	19.6107	0.95606	0.0:0.0:1.0:0.0	.	31;31	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	31	ENSP00000429015:L31F;ENSP00000335287:L31F;ENSP00000430056:L31F;ENSP00000428388:L31F;ENSP00000430827:L31F;ENSP00000351881:L31F;ENSP00000430357:L31F;ENSP00000430800:L31F;ENSP00000429647:L31F	ENSP00000335287:L31F	L	-	1	0	0	ANKRD46	101611147	101611147	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.425000	0.80255	2.648000	0.89879	0.655000	0.94253	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_198401			54	53		300	295	1		1	1		0	0	58	0		1	9.884583e-01	0	14	0	27	0	54	300
SNX31	169166	broad.mit.edu	37	8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000428383.2_Missense_Mutation_p.V213I|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	312					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502																																						ENST00000311812.2	1.000000	0.910000	1	9.900000e-01	0.990000	0.995068	0.990000	1.000000																										0				26						c.(934-936)Gtt>Att		sorting nexin 31							114.0	111.0	112.0					8																	101608911		2203	4300	6503	SO:0001583	missense	169166	2	121412	34				g.chr8:101608911C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.934G>A	chr8.hg19:g.101608911C>T	ENSP00000312368:p.Val312Ile	0					SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	p.V312I	NM_152628.3	NP_689841.3	0	0	0	1.973482	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)	10	1084	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	1	1	hg19	c.934G>A	CCDS6288.1	1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737498	0.03111	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22945	2.27;1.93	4.25	-2.68	0.06041	4.25	-2.68	0.06041	.	1.281140	0.05355	N	0.532635	T	0.08537	0.0212	N	0.00823	-1.155	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.32903	-0.9889	10	0.31617	T	0.26	0.8174	9.798	0.40746	0.0:0.4637:0.0:0.5363	.	213;312	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	312;213	ENSP00000312368:V312I;ENSP00000405024:V213I	ENSP00000312368:V312I	V	-	1	0	0	SNX31	101678087	101678087	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	0.098000	0.15189	-0.575000	0.05982	-1.155000	0.01812	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-17.166820	1	0.170000	NM_152628			51	51		438	431	1		1			0	0	96	0		1	0	0	0	0	0	0	51	438
SNX31	169166	broad.mit.edu	37	8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	189					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438																																						ENST00000311812.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				26						c.(565-567)Ctt>Att		sorting nexin 31							90.0	89.0	90.0					8																	101624274		2203	4300	6503	SO:0001583	missense	169166	0	0					g.chr8:101624274G>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.565C>A	chr8.hg19:g.101624274G>T	ENSP00000312368:p.Leu189Ile	0					SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	p.L189I	NM_152628.3	NP_689841.3	0	0	0	1.973482	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)	7	715	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	1	1	hg19	c.565C>A	CCDS6288.1	1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310250	0.40895	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.17;1.81;0.79	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.114287	0.37955	N	0.001861	T	0.40473	0.1118	L	0.49455	1.56	0.33742	D	0.619597	P;P	0.48503	0.778;0.911	B;B	0.37989	0.262;0.232	T	0.53215	-0.8470	10	0.20046	T	0.44	-13.6554	15.8344	0.78787	0.0:0.0:1.0:0.0	.	90;189	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	189;90;123	ENSP00000312368:L189I;ENSP00000405024:L90I;ENSP00000428210:L123I	ENSP00000312368:L189I	L	-	1	0	0	SNX31	101693450	101693450	1.000000	0.71417	0.136000	0.22124	0.435000	0.31806	4.973000	0.63763	2.822000	0.97130	0.650000	0.86243	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_152628			42	40		235	232	1		1	0		0	0	58	0		1	0	0	0	0	1	0	42	235
GRHL2	79977	broad.mit.edu	37	8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	272					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)			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)			ACCTCAACAAAGGACAGTTCT	0.502																																						ENST00000251808.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(814-816)aaA>aaC		grainyhead-like 2 (Drosophila)							87.0	73.0	78.0					8																	102585977		2203	4300	6503	SO:0001583	missense	79977	0	0					g.chr8:102585977A>C	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.816A>C	chr8.hg19:g.102585977A>C	ENSP00000251808:p.Lys272Asn	0					GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	p.K272N	NM_024915.3	NP_079191.2	0	0	0	1.973482	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)	6	1154	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	1	1	hg19	c.816A>C	CCDS34931.1	1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778126	0.70107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26957	1.7;1.7	5.8	0.79	0.18613	5.8	0.79	0.18613	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.875;0.999	T	0.56306	-0.8001	10	0.87932	D	0	-27.0773	11.1202	0.48284	0.7395:0.0:0.2605:0.0	.	272;272	B4DL28;Q6ISB3	.;GRHL2_HUMAN	N	272;256;272	ENSP00000251808:K272N;ENSP00000379260:K256N	ENSP00000251808:K272N	K	+	3	2	2	GRHL2	102655153	102655153	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	1.433000	0.34947	-0.346000	0.08312	-1.162000	0.01777	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	0	0	1		2	2	2	0		0	0	70		70	66	1	2.060000	-20.000000	1	0.170000	NM_024915			47	47		221	214	1		1	1		0	0	70	0		1	6.510853e-01	0	4	0	8	0	47	221
GRHL2	79977	broad.mit.edu	37	8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A	rs376663921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	305					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)			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)			GTGGTCTTCAGTGAAGACAAA	0.488																																						ENST00000251808.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				28						c.(913-915)aGt>aAt		grainyhead-like 2 (Drosophila)							125.0	106.0	112.0					8																	102589658		2203	4300	6503	SO:0001583	missense	79977	0	0					g.chr8:102589658G>A	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.914G>A	chr8.hg19:g.102589658G>A	ENSP00000251808:p.Ser305Asn	0					GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	p.S305N	NM_024915.3	NP_079191.2	0	0	0	1.973482	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)	7	1252	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	1	1	hg19	c.914G>A	CCDS34931.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.185364	0.94885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17370	2.28;2.28	5.35	5.35	0.76521	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	P	0.35139	0.486	P	0.45538	0.484	T	0.01401	-1.1364	10	0.45353	T	0.12	-17.3025	19.4438	0.94838	0.0:0.0:1.0:0.0	.	305	Q6ISB3	GRHL2_HUMAN	N	305;289;305	ENSP00000251808:S305N;ENSP00000379260:S289N	ENSP00000251808:S305N	S	+	2	0	0	GRHL2	102658834	102658834	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.954000	0.87848	2.655000	0.90218	0.655000	0.94253	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_024915			32	32		144	143	1		1	1		0	0	45	0		1	7.845223e-01	0	2	0	13	0	32	144
GRHL2	79977	broad.mit.edu	37	8	102611284	102611284	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)			TAATGTTACAGCCGATTACAA	0.368																																						ENST00000251808.3	1.000000	0.550000	1	7.300000e-01	0.940000	0.889842	0.940000	1.000000																										0				28						c.e8-1		grainyhead-like 2 (Drosophila)							87.0	81.0	83.0					8																	102611284		2203	4300	6503	SO:0001630	splice_region_variant	79977	0	0					g.chr8:102611284G>A	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.1004-1G>A	chr8.hg19:g.102611284G>A		0					GRHL2_ENST00000395927.1_Splice_Site		NM_024915.3	NP_079191.2	0	0	0	1.973482	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)	8	1341	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	1	1	hg19		CCDS34931.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905809	0.92107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GRHL2	102680460	102680460	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.725000	0.98778	2.861000	0.98227	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.377210	1	0.170000	NM_024915	Intron		14	14		158	157	0		1			0	0	36	0		9.997863e-01	0	0	0	0	0	0	14	158
NCALD	83988	broad.mit.edu	37	8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000311028.3	-	5	403	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	9					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478																																						ENST00000311028.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(25-27)Cgc>Tgc		neurocalcin delta							54.0	57.0	56.0					8																	102731833		2203	4300	6503	SO:0001583	missense	83988	0	0					g.chr8:102731833G>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.25C>T	chr8.hg19:g.102731833G>A	ENSP00000310587:p.Arg9Cys	0					NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C	p.R9C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	0	0	0	1.973482	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)	5	403	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	1	1	hg19	c.25C>T	CCDS6292.1	1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135044	0.56828	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661;ENST00000522206;ENST00000524137;ENST00000522078	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.34	5.34	0.76211	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.62266	1.93	0.80722	D	1	D	0.61080	0.989	B	0.39738	0.308	T	0.16958	-1.0385	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	9	P61601	NCALD_HUMAN	C	9	ENSP00000379256:R9C;ENSP00000310587:R9C;ENSP00000220931:R9C;ENSP00000428105:R9C;ENSP00000430476:R9C;ENSP00000428781:R9C;ENSP00000429466:R9C;ENSP00000429255:R9C;ENSP00000430731:R9C;ENSP00000430925:R9C;ENSP00000429522:R9C;ENSP00000428598:R9C;ENSP00000428312:R9C;ENSP00000429493:R9C;ENSP00000429245:R9C;ENSP00000430064:R9C;ENSP00000430534:R9C;ENSP00000428193:R9C;ENSP00000430365:R9C;ENSP00000428093:R9C;ENSP00000429296:R9C	ENSP00000220931:R9C	R	-	1	0	0	NCALD	102801009	102801009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.474000	0.83562	0.557000	0.71058	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000				69	69		344	340	1		1	0		0	0	86	0		1	9.762909e-01	0	1	0	31	0	69	344
RRM2B	50484	broad.mit.edu	37	8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	189					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)		Cladribine(DB00242)	AGCAGCAAAGGCCACCACTCT	0.353								Modulation of nucleotide pools																														ENST00000251810.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(565-567)gCc>gTc	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)	Cladribine(DB00242)						110.0	117.0	114.0					8																	103231160		2203	4300	6503	SO:0001583	missense	50484	0	0					g.chr8:103231160G>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.566C>T	chr8.hg19:g.103231160G>A	ENSP00000251810:p.Ala189Val	0					RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron	p.A189V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	0	0	0	1.973482	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)	6	809	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	1	1	hg19	c.566C>T	CCDS34932.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.098649	0.94197	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912	D;D	0.97791	-4.54;-4.54	5.37	5.37	0.77165	5.37	5.37	0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.099527	0.64402	D	0.000002	D	0.99260	0.9742	H	0.98256	4.185	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65443	0.776;0.935	D	0.98766	1.0726	10	0.87932	D	0	.	19.1474	0.93473	0.0:0.0:1.0:0.0	.	137;189	Q7LG56-2;Q7LG56	.;RIR2B_HUMAN	V	189;135;137	ENSP00000251810:A189V;ENSP00000379248:A137V	ENSP00000251810:A189V	A	-	2	0	0	RRM2B	103300336	103300336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.511000	0.84671	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3	0	0	0		19	5	2	1		1	1	143		143	142	1	2.060000	-20.000000	1	0.170000				140	138		670	659	1		1	1		1	0	143	0		1	9.999404e-01	0	22	0	82	0	140	670
UBR5	51366	broad.mit.edu	37	8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000520539.1	-	59	8926	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000520820.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2774	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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)			TAGAGTGGGACGTAAAGTCGA	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(8320-8322)Gtc>Atc		ubiquitin protein ligase E3 component n-recognin 5							194.0	178.0	183.0					8																	103266610		2203	4300	6503	SO:0001583	missense	51366	0	0					g.chr8:103266610C>T	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.8320G>A	chr8.hg19:g.103266610C>T	ENSP00000429084:p.Val2774Ile	0					KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I	p.V2774I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	0	0	0	1.973482	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)	59	8926	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	1	1	hg19	c.8320G>A	CCDS34933.1	1	.	.	.	.	.	.	.	.	.	.	C	6.479	0.456561	0.12283	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	5.76	5.76	0.90799	HECT (4);	0.000000	0.64402	D	0.000001	T	0.25644	0.0624	N	0.01771	-0.73	0.80722	D	1	B;B	0.31790	0.34;0.34	B;B	0.26517	0.045;0.07	T	0.35649	-0.9780	10	0.06099	T	0.92	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	2767;2774	E7EMW7;O95071	.;UBR5_HUMAN	I	2774;2773;502;2767	ENSP00000429084:V2774I;ENSP00000220959:V2773I;ENSP00000428693:V502I;ENSP00000427819:V2767I	ENSP00000220959:V2773I	V	-	1	0	0	UBR5	103335786	103335786	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.734000	0.84928	2.706000	0.92434	0.563000	0.77884	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_015902			49	48		176	172	1		1	1		0	0	39	0		1	1	0	36	0	132	0	49	176
UBR5	51366	broad.mit.edu	37	8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000520539.1	-	55	8324	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2573	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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)			ATACATTACAGGATCAAAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(7717-7719)cCt>cAt		ubiquitin protein ligase E3 component n-recognin 5							96.0	92.0	93.0					8																	103274267		2203	4300	6503	SO:0001583	missense	51366	0	0					g.chr8:103274267G>T	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.7718C>A	chr8.hg19:g.103274267G>T	ENSP00000429084:p.Pro2573His	0					UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H	p.P2573H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	0	0	0	1.973482	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)	55	8324	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	1	1	hg19	c.7718C>A	CCDS34933.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301251	0.81136	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	5.4	0.78164	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.87269	2.87	0.52501	D	0.999951	D;D	0.65815	0.995;0.995	D;D	0.79784	0.993;0.993	T	0.81309	-0.0991	10	0.59425	D	0.04	.	14.1163	0.65156	0.0:0.0:0.8496:0.1504	.	2566;2573	E7EMW7;O95071	.;UBR5_HUMAN	H	2573;2572;301;2566	ENSP00000429084:P2573H;ENSP00000220959:P2572H;ENSP00000428693:P301H;ENSP00000427819:P2566H	ENSP00000220959:P2572H	P	-	2	0	0	UBR5	103343443	103343443	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.580000	0.79431	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-2.843758	1	0.170000	NM_015902			65	64		271	269	1		1	1		0	0	69	0		1	1	0	34	0	136	0	65	271
UBR5	51366	broad.mit.edu	37	8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000520539.1	-	29	4376	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1257					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)			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)			AGTGAGCAGGCGATAAAGTAG	0.418																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1	0.940000	0.300000	7.600000e-01	4.200000e-01	0.570000	0.598716	0.570000	0.560000																										0				124						c.(3769-3771)cGc>cAc		ubiquitin protein ligase E3 component n-recognin 5							124.0	115.0	118.0					8																	103307906		2203	4300	6503	SO:0001583	missense	51366	0	0					g.chr8:103307906C>T	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.3770G>A	chr8.hg19:g.103307906C>T	ENSP00000429084:p.Arg1257His	0					UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H|UBR5_ENST00000519528.1_5'Flank	p.R1257H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	0	0	0	1.973482	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)	29	4376	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	1	1	hg19	c.3770G>A	CCDS34933.1	0	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883557	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.35854	1.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.60383	-0.7274	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1251;1257	E7EMW7;O95071	.;UBR5_HUMAN	H	1257;1257;1251	ENSP00000429084:R1257H;ENSP00000220959:R1257H;ENSP00000427819:R1251H	ENSP00000220959:R1257H	R	-	2	0	0	UBR5	103377082	103377082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.685000	0.91497	0.585000	0.79938	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-4.524602	1	0.170000	NM_015902			11	11		214	213	0		1	0		0	0	34	0		9.984170e-01	9.118878e-01	0	1	0	84	0	11	214
UBR5	51366	broad.mit.edu	37	8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000520539.1	-	13	2099	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					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)			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)			TTGACTAAAAGGAACTACACC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999326	0.990000	1.000000																										0				124						c.(1492-1494)cCt>cTt		ubiquitin protein ligase E3 component n-recognin 5							140.0	128.0	132.0					8																	103338880		2203	4300	6503	SO:0001583	missense	51366	0	0					g.chr8:103338880G>A	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.1493C>T	chr8.hg19:g.103338880G>A	ENSP00000429084:p.Pro498Leu	0					UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	0	0	0	1.973482	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)	13	2099	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	1	1	hg19	c.1493C>T	CCDS34933.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738842	0.89573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.75477	-0.94;-0.94;-0.92	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.76727	2.345	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	D	0.87270	0.2285	10	0.87932	D	0	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	492;498	E7EMW7;O95071	.;UBR5_HUMAN	L	498;498;492	ENSP00000429084:P498L;ENSP00000220959:P498L;ENSP00000427819:P492L	ENSP00000220959:P498L	P	-	2	0	0	UBR5	103408056	103408056	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.373000	0.97168	2.566000	0.86566	0.460000	0.39030	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-3.323170	1	0.170000	NM_015902			28	28		178	177	1		1	1		0	0	38	0		1	9.917763e-01	0	11	0	40	0	28	178
UBR5	51366	broad.mit.edu	37	8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000520539.1	-	8	1433	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	276					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)			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)			ACCAAAATAGCTAATGTCTTC	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				124						c.(826-828)aGc>aTc		ubiquitin protein ligase E3 component n-recognin 5							94.0	87.0	90.0					8																	103357683		2203	4300	6503	SO:0001583	missense	51366	0	0					g.chr8:103357683C>A	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.827G>T	chr8.hg19:g.103357683C>A	ENSP00000429084:p.Ser276Ile	0					UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	0	0	0	1.973482	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)	8	1433	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	1	1	hg19	c.827G>T	CCDS34933.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.190150	0.94923	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.9;0.9;0.89	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	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	0.32455	-0.9906	10	0.20046	T	0.44	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	276;276	E7EMW7;O95071	.;UBR5_HUMAN	I	276	ENSP00000429084:S276I;ENSP00000220959:S276I;ENSP00000427819:S276I	ENSP00000220959:S276I	S	-	2	0	0	UBR5	103426859	103426859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_015902			26	26		121	119	0		1	1		0	0	26	0		1	9.998951e-01	0	6	0	66	0	26	121
ODF1	4956	broad.mit.edu	37	8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				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)			GGACAGAGAACTAAGGCAACT	0.488																																						ENST00000285402.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(64-66)Cta>Ata		outer dense fiber of sperm tails 1							271.0	206.0	228.0					8																	103564019		2203	4300	6503	SO:0001583	missense	4956	0	0					g.chr8:103564019C>A	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.64C>A	chr8.hg19:g.103564019C>A	ENSP00000285402:p.Leu22Ile	0						p.L22I	NM_024410.3	NP_077721.2	0	0	0	1.973482	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)	1	220	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	1	1	hg19	c.64C>A	CCDS6293.1	1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332159	0.60853	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	2.92	0.33932	5.7	2.92	0.33932	.	0.000000	0.41938	D	0.000790	T	0.33904	0.0879	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.67548	0.952	T	0.11518	-1.0584	10	0.41790	T	0.15	-13.2892	9.486	0.38931	0.0:0.839:0.0:0.161	.	22	Q14990	ODFP1_HUMAN	I	22	ENSP00000285402:L22I	ENSP00000285402:L22I	L	+	1	2	2	ODF1	103633195	103633195	0.969000	0.33509	0.952000	0.39060	0.991000	0.79684	0.541000	0.23207	0.328000	0.23435	0.563000	0.77884	CTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000				109	108		474	462	1		1			0	0	102	0		1	0	0	0	0	0	0	109	474
ODF1	4956	broad.mit.edu	37	8	103564276	103564276	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				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)			AGCTTGCCAAGtaaaataact	0.343																																						ENST00000285402.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.e1+1		outer dense fiber of sperm tails 1							51.0	50.0	50.0					8																	103564276		2203	4300	6503	SO:0001630	splice_region_variant	4956	0	0					g.chr8:103564276G>T	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.320+1G>T	chr8.hg19:g.103564276G>T		0							NM_024410.3	NP_077721.2	0	0	0	1.973482	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)	1	476	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		Q3SX72	Splice_Site	SNP	ENST00000285402.3	1	1	hg19		CCDS6293.1	1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034235	0.54896	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ODF1	103633452	103633452	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.746000	0.62133	2.601000	0.87937	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000		Intron		58	56		236	233	0		1			0	0	53	0		1	0	0	0	0	0	0	58	236
KLF10	7071	broad.mit.edu	37	8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000285407.6	-	3	1349	c.1049T>G	c.(1048-1050)tTt>tGt	p.F350C	KLF10_ENST00000395884.3_Missense_Mutation_p.F339C	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000285407.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1048-1050)tTt>tGt		Kruppel-like factor 10							82.0	93.0	89.0					8																	103663511		2203	4300	6503	SO:0001583	missense	7071	0	0					g.chr8:103663511A>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1049T>G	chr8.hg19:g.103663511A>C	ENSP00000285407:p.Phe350Cys	0					KLF10_ENST00000395884.3_Missense_Mutation_p.F339C	p.F350C	NM_005655.2	NP_005646.1	0	0	0	1.973482	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)	3	1349	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	1	1	hg19	c.1049T>G	CCDS6294.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690749	0.48097	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14640	2.49;2.56	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.151335	0.47852	D	0.000211	T	0.23370	0.0565	M	0.64997	1.995	0.09310	N	1	B;D	0.61080	0.066;0.989	B;P	0.49361	0.041;0.608	T	0.13124	-1.0521	10	0.30854	T	0.27	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	350;339	Q13118;O75411	KLF10_HUMAN;.	C	350;339	ENSP00000285407:F350C;ENSP00000379222:F339C	ENSP00000285407:F350C	F	-	2	0	0	KLF10	103732687	103732687	0.947000	0.32204	0.187000	0.23214	0.987000	0.75469	3.309000	0.51903	2.209000	0.71365	0.533000	0.62120	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1	1	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-20.000000	1	0.170000				96	93		399	391	1		1	1		0	0	102	0		1	1	0	26	0	157	0	96	399
PRSS55	203074	broad.mit.edu	37	8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A	rs200945105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000328655.3	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17168	0.001		0.0	False		,,,				2504	0.0					ENST00000328655.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(55-57)Ggt>Agt		protease, serine, 55							80.0	66.0	71.0					8																	10383150		2203	4300	6503	SO:0001583	missense	203074	1	121412	36				g.chr8:10383150G>A	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.55G>A	chr8.hg19:g.10383150G>A	ENSP00000333003:p.Gly19Ser	0					PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S|PRSS51_ENST00000523024.1_RNA	p.G19S	NM_198464.3	NP_940866.2	0	0	0	1.973482	Q6UWB4	PRS55_HUMAN		1	95	+			E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	1	1	hg19	c.55G>A	CCDS5976.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.148	0.025788	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.87887	-2.31;-2.29	3.39	0.607	0.17564	3.39	0.607	0.17564	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.23275	0.045	T	0.60939	-0.7163	9	0.51188	T	0.08	.	6.7064	0.23252	0.1156:0.1717:0.7127:0.0	.	19	Q6UWB4	PRS55_HUMAN	S	19	ENSP00000333003:G19S;ENSP00000430459:G19S	ENSP00000333003:G19S	G	+	1	0	0	PRSS55	10420560	10420560	0.566000	0.26618	0.024000	0.17045	0.000000	0.00434	0.525000	0.22956	0.103000	0.17682	-2.793000	0.00115	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.664974	1	0.170000	NM_198464			52	52		206	205	1		1			0	0	58	0		1	0	0	0	0	0	0	52	206
KLF10	7071	broad.mit.edu	37	8	103667818	103667818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F	KLF10_ENST00000395884.3_5'Flank	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	4					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000285407.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999796	0.990000	1.000000																										0				18						c.(10-12)ttC>ttT		Kruppel-like factor 10							78.0	72.0	74.0					8																	103667818		2203	4300	6503	SO:0001819	synonymous_variant	7071	0	0					g.chr8:103667818G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.12C>T	chr8.hg19:g.103667818G>A		0					KLF10_ENST00000395884.3_5'Flank	p.F4F	NM_005655.2	NP_005646.1	0	0	0	1.973482	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)	1	312	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	1	1	hg19	c.12C>T	CCDS6294.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-15.434520	1	0.170000				29	29		168	163	0		1	1		0	0	40	0		1	9.989663e-01	0	9	0	56	0	29	168
AZIN1	51582	broad.mit.edu	37	8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	278					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338																																						ENST00000337198.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(832-834)tCt>tTt		antizyme inhibitor 1							84.0	90.0	88.0					8																	103845355		2203	4300	6503	SO:0001583	missense	51582	0	0					g.chr8:103845355G>A	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.833C>T	chr8.hg19:g.103845355G>A	ENSP00000337180:p.Ser278Phe	0					AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	p.S278F	NM_148174.2	NP_680479.1	0	0	0	1.973482	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)	9	1996	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	1	1	hg19	c.833C>T	CCDS6295.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534590	0.45073	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	6.06	6.06	0.98353	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.050710	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55743	1.74	0.58432	D	0.999999	B	0.29341	0.242	B	0.39068	0.289	T	0.45527	-0.9255	10	0.56958	D	0.05	-14.8825	20.6208	0.99490	0.0:0.0:1.0:0.0	.	278	O14977	AZIN1_HUMAN	F	278	ENSP00000337180:S278F;ENSP00000321507:S278F	ENSP00000337180:S278F	S	-	2	0	0	AZIN1	103914531	103914531	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000				59	57		288	285	1		1	1		0	0	58	0		1	1	0	62	0	284	0	59	288
BAALC	79870	broad.mit.edu	37	8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000297574.6	+	3	531	c.392G>A	c.(391-393)gGc>gAc	p.G131D	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000309982.5_Missense_Mutation_p.G96D|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	131						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567																																						ENST00000297574.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(391-393)gGc>gAc		brain and acute leukemia, cytoplasmic							113.0	106.0	108.0					8																	104225273		2203	4300	6503	SO:0001583	missense	79870	0	0					g.chr8:104225273G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.392G>A	chr8.hg19:g.104225273G>A	ENSP00000297574:p.Gly131Asp	0					RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.G96D|RP11-318M2.2_ENST00000523614.2_RNA	p.G131D			0	0	0	1.973482	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)	3	531	+			Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	1	1	hg19	c.392G>A		1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225051	0.79576	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.56275	0.59;0.47	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.75777	-0.3198	9	0.87932	D	0	-15.2011	14.6078	0.68493	0.0:0.0:1.0:0.0	.	131;96	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	D	96;131	ENSP00000312457:G96D;ENSP00000297574:G131D	ENSP00000297574:G131D	G	+	2	0	0	BAALC	104294449	104294449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.291000	0.51764	2.578000	0.87016	0.655000	0.94253	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1	1	0	1		2	2	2	0		0	0	194		194	192	1	2.060000	-20.000000	1	0.170000				113	112		469	461	1		1	0		0	0	194	0		1	9.931586e-01	0	0	0	34	0	113	469
FZD6	8323	broad.mit.edu	37	8	104343602	104343602	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343602C>A	ENST00000358755.4	+	7	2303	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000522566.1_Silent_p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	662					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)			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)			CTGACACTGGCCTGGCACAGA	0.428																																						ENST00000358755.4	0.530000	0.230000	4.500000e-01	2.900000e-01	0.360000	0.378711	0.360000	0.360000																										0				24						c.(1984-1986)ggC>ggA		frizzled class receptor 6							177.0	175.0	176.0					8																	104343602		2203	4300	6503	SO:0001819	synonymous_variant	8323	0	0					g.chr8:104343602C>A	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.1986C>A	chr8.hg19:g.104343602C>A		0					FZD6_ENST00000522566.1_Silent_p.G662G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000540287.1_Silent_p.G357G	p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	0	0	0	1.973482	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)	7	2303	+			B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	1	1	hg19	c.1986C>A	CCDS6298.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	0	0	1		2	2	2	0		0	0	143		143	142	1	2.060000	-3.020904	1	0.170000	NM_003506			21	20		647	624	0		1	1		0	0	143	0		9.999963e-01	9.057292e-01	0	5	0	122	0	21	647
CTHRC1	115908	broad.mit.edu	37	8	104387965	104387965	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1						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)				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)			TCTCATTATAGTATAATGGAA	0.478																																						ENST00000330295.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.e2-1		collagen triple helix repeat containing 1							86.0	99.0	95.0					8																	104387965		2203	4300	6503	SO:0001630	splice_region_variant	115908	0	0					g.chr8:104387965G>A	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.151-1G>A	chr8.hg19:g.104387965G>A		0					CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site		NM_138455.3	NP_612464.1	0	0	0	1.973482	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)	2	292	+			G3V141|Q6UW91|Q8IX63	Splice_Site	SNP	ENST00000330295.5	1	1	hg19		CCDS6299.1	1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843455	0.71488	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CTHRC1	104457141	104457141	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	8.908000	0.92640	2.500000	0.84329	0.591000	0.81541	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-20.000000	1	0.170000	NM_138455	Intron		108	106		550	541	1		1	0		0	0	98	0		1	7.323427e-02	0	0	0	3	0	108	550
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	52					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)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAACTGGAACGAGTATTTGC	0.428																																						ENST00000297579.5	1.000000	0.440000	9.900000e-01	5.900000e-01	0.770000	0.778748	0.770000	1.000000																										0				25						c.(610-612)Cga>Tga		DDB1 and CUL4 associated factor 13							113.0	103.0	106.0					8																	104432575		2203	4300	6503	SO:0001587	stop_gained	25879	2	121412	41				g.chr8:104432575C>T	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.610C>T	chr8.hg19:g.104432575C>T	ENSP00000297579:p.Arg204*	0					DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*	p.R204*	NM_015420.6	NP_056235.4	0	0	0	1.973482	Q9NV06	DCA13_HUMAN		2	887	+			Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Nonsense_Mutation	SNP	ENST00000297579.5	0	1	hg19	c.610C>T	CCDS34934.1	0	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798807	0.90538	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.111571	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3513	18.7083	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	204;48;48;52;48	.	ENSP00000297579:R204X	R	+	1	2	2	DCAF13	104501751	104501751	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.375000	0.59549	2.415000	0.81967	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-16.796510	1	0.170000	NM_015420			13	13		183	181	0		1	0		0	0	69	0		9.995605e-01	9.969685e-01	0	1	0	140	0	13	183
RP1L1	94137	broad.mit.edu	37	8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2383	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)				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)		CAAGAGGATGCTCTGGAGGAG	0.607																																						ENST00000382483.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(6907-6909)Gca>Tca		retinitis pigmentosa 1-like 1							187.0	190.0	189.0					8																	10464701		1950	4147	6097	SO:0001583	missense	94137	0	0					g.chr8:10464701C>A	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.6907G>T	chr8.hg19:g.10464701C>A	ENSP00000371923:p.Ala2303Ser	0						p.A2303S	NM_178857.5	NP_849188.4	0	0	0	1.973482	Q8IWN7	RP1L1_HUMAN		4	7130	-			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	1	1	hg19	c.6907G>T	CCDS43708.1	1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707590	0.15239	.	.	ENSG00000183638	ENST00000382483	T	0.08370	3.1	4.01	-8.02	0.01118	4.01	-8.02	0.01118	.	3.056560	0.01886	N	0.038208	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.32161	-0.9917	10	0.25106	T	0.35	5.0784	2.6649	0.05041	0.1944:0.4196:0.2104:0.1756	.	2303	A6NKC6	.	S	2303	ENSP00000371923:A2303S	ENSP00000371923:A2303S	A	-	1	0	0	RP1L1	10502111	10502111	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.444000	0.02403	-2.037000	0.00920	-0.431000	0.05894	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0	0	1		2	2	2	0		0	0	303		303	301	1	2.060000	-20.000000	1	0.170000				284	278		1234	1209	1		1	0		0	0	303	0		1	3.525641e-02	0	0	0	2	0	284	1234
RP1L1	94137	broad.mit.edu	37	8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2074	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)				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)		CTGACTCTGGCTGGGCCTCCC	0.602																																						ENST00000382483.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				148						c.(5980-5982)caG>caT		retinitis pigmentosa 1-like 1							173.0	189.0	184.0					8																	10465626		1981	4157	6138	SO:0001583	missense	94137	0	0					g.chr8:10465626C>A	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.5982G>T	chr8.hg19:g.10465626C>A	ENSP00000371923:p.Gln1994His	0						p.Q1994H	NM_178857.5	NP_849188.4	0	0	0	1.973482	Q8IWN7	RP1L1_HUMAN		4	6205	-			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	1	1	hg19	c.5982G>T	CCDS43708.1	1	.	.	.	.	.	.	.	.	.	.	C	7.483	0.649002	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	1.24	0.21308	1.24	1.24	0.21308	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.50570	0.644	T	0.38134	-0.9675	9	0.56958	D	0.05	.	5.0404	0.14456	0.0:0.7812:0.0:0.2188	.	1994	A6NKC6	.	H	1994	ENSP00000371923:Q1994H	ENSP00000371923:Q1994H	Q	-	3	2	2	RP1L1	10503036	10503036	0.059000	0.20769	0.136000	0.22124	0.274000	0.26718	0.878000	0.28126	0.535000	0.28714	0.305000	0.20034	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	1	0	1		2	2	2	0		0	0	342		342	340	1	2.060000	-20.000000	1	0.170000				345	326		1522	1424	1		1	0		0	0	342	0		1	0	0	1	0	0	0	345	1522
DCAF13	25879	broad.mit.edu	37	8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	392					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)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACGTATAGCTCGTCATCGACA	0.383																																						ENST00000297579.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1630-1632)Cgt>Tgt		DDB1 and CUL4 associated factor 13							131.0	124.0	126.0					8																	104453770		2203	4300	6503	SO:0001583	missense	25879	10	121412	42				g.chr8:104453770C>T	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.1630C>T	chr8.hg19:g.104453770C>T	ENSP00000297579:p.Arg544Cys	0						p.R544C	NM_015420.6	NP_056235.4	0	0	0	1.973482	Q9NV06	DCA13_HUMAN		10	1907	+			Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	1	1	hg19	c.1630C>T	CCDS34934.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445274	0.63178	.	.	ENSG00000164934	ENST00000297579	T	0.76316	-1.01	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.068684	0.64402	D	0.000017	D	0.90283	0.6961	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.92323	0.5867	8	0.87932	D	0	-16.4943	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	C	544	ENSP00000297579:R544C	ENSP00000297579:R544C	R	+	1	0	0	DCAF13	104522946	104522946	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.433000	0.44793	2.521000	0.84997	0.563000	0.77884	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-3.341755	1	0.170000	NM_015420			109	104		454	444	1		1	1		0	0	92	0		1	1	0	31	0	121	0	109	454
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000436393.2	+	2	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			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)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)																												ENST00000436393.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999087	0.990000	1.000000																										0				144						c.(214-216)aGg>aAg		regulating synaptic membrane exocytosis 2							105.0	97.0	99.0					8																	104897708		1884	4109	5993	SO:0001583	missense	9699	0	0					g.chr8:104897708G>A	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.215G>A	chr8.hg19:g.104897708G>A	ENSP00000390665:p.Arg72Lys	0	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR	p.R72K			0	0	0	1.973482	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)	2	456	+			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	1	1	hg19	c.215G>A		1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.89;1.87;1.88;1.85;2.27	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	T	0.58906	0.2155	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D	0.63046	0.774;0.921;0.93;0.977;0.992	B;D;P;P;P	0.65233	0.416;0.933;0.712;0.652;0.854	T	0.60801	-0.7191	9	0.59425	D	0.04	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	325;72;102;102;294	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	294;325;294;325;102;102;102;102;72	ENSP00000427018:R294K;ENSP00000384892:R294K;ENSP00000425205:R102K;ENSP00000262231:R102K;ENSP00000423559:R102K;ENSP00000386228:R102K;ENSP00000390665:R72K	ENSP00000262231:R102K	R	+	2	0	0	RIMS2	104966884	104966884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.108000	0.89559	2.474000	0.83562	0.460000	0.39030	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-2.690413	1	0.170000	NM_001100117			44	44		327	320	1		1	0		0	0	81	0		1	0	0	0	0	1	0	44	327
RIMS2	9699	broad.mit.edu	37	8	104922756	104922756	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104922756A>C	ENST00000262231.10	+	3	1504	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	642					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)			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)			CATAGTGATAAGGTACTGAGA	0.438										HNSCC(12;0.0054)																												ENST00000262231.10	1.000000	0.620000	1	8.200000e-01	0.990000	0.938995	0.990000	1.000000																										0				144						c.(1255-1257)aAg>aCg		regulating synaptic membrane exocytosis 2							40.0	38.0	38.0					8																	104922756		876	1991	2867	SO:0001630	splice_region_variant	9699	0	0					g.chr8:104922756A>C	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		ENST00000262231.10:c.1257+1A>C	chr8.hg19:g.104922756A>C		0	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	p.K419T	NM_001282881.1	NP_001269810.1	0	0	0	1.973482	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)	3	1504	+			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	ENST00000262231.10	0	1	hg19	c.1256A>C		1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549817	0.27652	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.17691	2.26	4.78	4.78	0.61160	4.78	4.78	0.61160	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.05007	-1.0912	8	0.28530	T	0.3	.	14.6056	0.68475	1.0:0.0:0.0:0.0	.	419	Q9UQ26-1	.	T	642;419	ENSP00000262231:K419T	ENSP00000262231:K419T	K	+	2	0	0	RIMS2	104991932	104991932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	1.910000	0.55303	0.528000	0.53228	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_001100117	Missense_Mutation		14	13		137	137	0		1	0		0	0	32	0		9.997923e-01	0	0	0	0	1	0	14	137
DPYS	1807	broad.mit.edu	37	8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	205					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)			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)			GAGCCAACATCTTCTTTGCTC	0.488																																						ENST00000351513.2	1.000000	0.440000	9.600000e-01	5.800000e-01	0.750000	0.766147	0.750000	1.000000																										0				41						c.(613-615)aaG>aaT		dihydropyrimidinase							53.0	50.0	51.0					8																	105456654		2203	4300	6503	SO:0001583	missense	1807	0	0					g.chr8:105456654C>A	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.615G>T	chr8.hg19:g.105456654C>A	ENSP00000276651:p.Lys205Asn	0						p.K205N	NM_001385.2	NP_001376.1	0	0	0	1.973482	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)	4	747	-				Missense_Mutation	SNP	ENST00000351513.2	1	1	hg19	c.615G>T	CCDS6302.1	0	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026521	0.54683	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.67	3.85	0.44370	5.67	3.85	0.44370	Amidohydrolase 1 (1);	0.049823	0.85682	N	0.000000	D	0.87601	0.6218	M	0.72576	2.205	0.40661	D	0.982129	B	0.27229	0.172	B	0.35655	0.207	D	0.84252	0.0478	10	0.87932	D	0	-8.3477	5.362	0.16093	0.1443:0.6411:0.0:0.2146	.	205	Q14117	DPYS_HUMAN	N	205	ENSP00000276651:K205N	ENSP00000276651:K205N	K	-	3	2	2	DPYS	105525830	105525830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.301000	0.43628	0.714000	0.32081	0.655000	0.94253	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-18.957900	1	0.170000	NM_001385			15	15		216	211	0		1			0	0	52	0		9.998675e-01	0	0	0	0	0	0	15	216
DPYS	1807	broad.mit.edu	37	8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	187					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)			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)			CTGGGCAATTGCTCCAATTTC	0.448																																						ENST00000351513.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(559-561)gCa>gTa		dihydropyrimidinase							120.0	111.0	114.0					8																	105459595		2203	4300	6503	SO:0001583	missense	1807	0	0					g.chr8:105459595G>A	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.560C>T	chr8.hg19:g.105459595G>A	ENSP00000276651:p.Ala187Val	0						p.A187V	NM_001385.2	NP_001376.1	0	0	0	1.973482	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)	3	692	-				Missense_Mutation	SNP	ENST00000351513.2	1	1	hg19	c.560C>T	CCDS6302.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.583454	0.96578	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90844	-2.74;-2.65	6.02	6.02	0.97574	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.050856	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	D	0.94741	0.7919	10	0.72032	D	0.01	-23.932	20.547	0.99278	0.0:0.0:1.0:0.0	.	187	Q14117	DPYS_HUMAN	V	187;134	ENSP00000276651:A187V;ENSP00000430246:A134V	ENSP00000276651:A187V	A	-	2	0	0	DPYS	105528771	105528771	1.000000	0.71417	0.933000	0.37362	0.954000	0.61252	9.476000	0.97823	2.850000	0.98022	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_001385			62	62		263	258	1		1			0	0	51	0		1	0	0	0	0	0	0	62	263
DPYS	1807	broad.mit.edu	37	8	105463555	105463555	+	Silent	SNP	G	G	A	rs538642538	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	114					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)			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)			GCCAGGTCTCGAAGGCCTCAA	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18105	0.0		0.0	False		,,,				2504	0.0					ENST00000351513.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				41						c.(340-342)ttC>ttT		dihydropyrimidinase							98.0	87.0	91.0					8																	105463555		2203	4300	6503	SO:0001819	synonymous_variant	1807	3	121412	35				g.chr8:105463555G>A	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.342C>T	chr8.hg19:g.105463555G>A		0						p.F114F	NM_001385.2	NP_001376.1	0	0	0	1.973482	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)	2	474	-				Silent	SNP	ENST00000351513.2	1	1	hg19	c.342C>T	CCDS6302.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-19.861390	1	0.170000	NM_001385			38	37		196	190	1		1			0	0	65	0		1	0	0	0	0	0	0	38	196
LRP12	29967	broad.mit.edu	37	8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	399	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)			TTGGGCAATGCCAATACCCAT	0.468																																						ENST00000276654.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1195-1197)tgG>tgA		low density lipoprotein receptor-related protein 12							115.0	105.0	108.0					8																	105509583		2203	4300	6503	SO:0001587	stop_gained	29967	0	0					g.chr8:105509583C>T	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.1197G>A	chr8.hg19:g.105509583C>T	ENSP00000276654:p.Trp399*	0					LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*|LRP12_ENST00000518375.1_5'Flank	p.W399*	NM_013437.4	NP_038465.1	0	0	0	1.973482	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)	5	1305	-			A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000276654.5	0	1	hg19	c.1197G>A	CCDS6303.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.897695	0.97920	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7409	19.7495	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	380;399	.	ENSP00000276654:W399X	W	-	3	0	0	LRP12	105578759	105578759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	0	0	1		16	4	2	1		1	1	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_013437			79	79		313	305	1		1	0		1	0	86	0		1	9.849704e-01	0	3	0	42	0	79	313
C8orf74	203076	broad.mit.edu	37	8	10557846	10557846	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607																																						ENST00000304519.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(748-750)ctG>ctT		chromosome 8 open reading frame 74							88.0	94.0	92.0					8																	10557846		2001	4174	6175	SO:0001819	synonymous_variant	203076	0	0					g.chr8:10557846G>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.750G>T	chr8.hg19:g.10557846G>T		0					RP1L1_ENST00000329335.3_Intron	p.L250L	NM_001040032.1	NP_001035121	0	0	0	1.973482	Q6P047	CH074_HUMAN		4	779	+			A2RUD6	Silent	SNP	ENST00000304519.5	1	1	hg19	c.750G>T	CCDS47800.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.322926	1	0.170000	NM_001040032			69	67		374	369	1		1			0	0	74	0		1	0	0	0	0	0	0	69	374
SOX7	83595	broad.mit.edu	37	8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000553390.1_Missense_Mutation_p.E383G|SOX7_ENST00000554914.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	331	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)			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)		CTGGTCGAATTCATTGCGATC	0.627																																						ENST00000304501.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(991-993)gAa>gGa		SRY (sex determining region Y)-box 7							95.0	85.0	89.0					8																	10583423		2203	4300	6503	SO:0001583	missense	83595	0	0					g.chr8:10583423T>C	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.992A>G	chr8.hg19:g.10583423T>C	ENSP00000301921:p.Glu331Gly	0					SOX7_ENST00000554914.1_Missense_Mutation_p.E383G|SOX7_ENST00000553390.1_Missense_Mutation_p.E383G	p.E331G	NM_031439.2	NP_113627.1	0	0	0	1.973482	Q9BT81	SOX7_HUMAN		2	1070	-			B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	1	1	hg19	c.992A>G	CCDS5977.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280179	0.80692	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.89875	-2.58;-2.58;-2.58	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.94676	0.8283	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95429	0.8514	10	0.87932	D	0	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	383;331	B4DKV0;Q9BT81	.;SOX7_HUMAN	G	331;383;383	ENSP00000301921:E331G;ENSP00000452017:E383G;ENSP00000451145:E383G	ENSP00000346908:E383G	E	-	2	0	0	SOX7;CTD-2135J3.4	10620833	10620833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1	1	0	1		2	2	2	0		0	0	45		45	42	1	2.060000	-20.000000	1	0.170000				52	50		237	226	1		1	1	0	0	0	45	0		1	9.857263e-01	0	11	1	22	0	52	237
LRP12	29967	broad.mit.edu	37	8	105510183	105510183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000424843.2_Silent_p.I180I|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	199	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)			CTTTGGCACAGATCTCTTCAT	0.428																																						ENST00000276654.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(595-597)atC>atA		low density lipoprotein receptor-related protein 12							205.0	182.0	190.0					8																	105510183		2203	4300	6503	SO:0001819	synonymous_variant	29967	0	0					g.chr8:105510183G>T	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.597C>A	chr8.hg19:g.105510183G>T		0					LRP12_ENST00000424843.2_Silent_p.I180I|LRP12_ENST00000518375.1_5'Flank	p.I199I	NM_013437.4	NP_038465.1	0	0	0	1.973482	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)	5	705	-			A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	1	1	hg19	c.597C>A	CCDS6303.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-3.223251	1	0.170000	NM_013437			105	104		559	554	1		1	1		0	0	109	0		1	9.992665e-01	0	4	0	54	0	105	559
XKR6	286046	broad.mit.edu	37	8	10755726	10755726	+	Silent	SNP	G	G	A	rs183318725		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	554						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16685	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				31						c.(1660-1662)ctC>ctT		XK, Kell blood group complex subunit-related family, member 6							57.0	45.0	49.0					8																	10755726		2203	4300	6503	SO:0001819	synonymous_variant	286046	2	121412	28				g.chr8:10755726G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1662C>T	chr8.hg19:g.10755726G>A		0					XKR6_ENST00000304437.2_Silent_p.L275L	p.L554L	NM_173683.3	NP_775954.2	0	0	0	1.973482	Q5GH73	XKR6_HUMAN		3	1688	-			Q8TBA0	Silent	SNP	ENST00000416569.2	1	1	hg19	c.1662C>T	CCDS5978.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.635	-0.074829	0.07184	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-7.9244	10.5583	0.45131	0.0878:0.0:0.9122:0.0	.	.	.	.	L	331	.	.	S	-	2	0	0	XKR6	10793136	10793136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.479000	0.83701	0.561000	0.74099	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_173683			40	39		182	181	1		1	0		0	0	46	0		1	0	0	0	0	1	0	40	182
XKR6	286046	broad.mit.edu	37	8	10756176	10756176	+	Silent	SNP	G	G	A	rs139763869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	404						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20851	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1210-1212)ggC>ggT		XK, Kell blood group complex subunit-related family, member 6							94.0	87.0	89.0					8																	10756176		2203	4300	6503	SO:0001819	synonymous_variant	286046	7	121412	39				g.chr8:10756176G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1212C>T	chr8.hg19:g.10756176G>A		0					XKR6_ENST00000304437.2_Silent_p.G125G	p.G404G	NM_173683.3	NP_775954.2	0	0	0	1.973482	Q5GH73	XKR6_HUMAN		3	1238	-			Q8TBA0	Silent	SNP	ENST00000416569.2	1	1	hg19	c.1212C>T	CCDS5978.2	1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.745	-0.052838	0.07362	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	1.98	0.26296	5.27	1.98	0.26296	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-0.0538	8.8542	0.35219	0.3603:0.0:0.6397:0.0	.	.	.	.	V	181	.	.	A	-	2	0	0	XKR6	10793586	10793586	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	0.590000	0.29694	0.561000	0.74099	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.765084	1	0.170000	NM_173683			42	42		150	146	1		1			0	0	50	0		1	0	0	0	0	0	0	42	150
ZFPM2	23414	broad.mit.edu	37	8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	716					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)			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)			ACGCCACGACCCTCCACTGAA	0.502																																						ENST00000407775.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(2146-2148)Cct>Tct		zinc finger protein, FOG family member 2							55.0	53.0	54.0					8																	106814456		2077	4205	6282	SO:0001583	missense	23414	0	0					g.chr8:106814456C>T	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.2146C>T	chr8.hg19:g.106814456C>T	ENSP00000384179:p.Pro716Ser	0					ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.P716S	NM_012082.3	NP_036214.2	0	0	0	1.973482	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)	8	2396	+			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	1	1	hg19	c.2146C>T	CCDS47908.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422952	0.83559	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25749	1.78;2.29;2.29;3.54	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.046322	0.85682	D	0.000000	T	0.53270	0.1786	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47522	-0.9111	10	0.46703	T	0.11	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	716	Q8WW38	FOG2_HUMAN	S	716;584;584;447	ENSP00000384179:P716S;ENSP00000430757:P584S;ENSP00000428720:P584S;ENSP00000367733:P447S	ENSP00000367733:P447S	P	+	1	0	0	ZFPM2	106883632	106883632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-4.067062	1	0.170000				37	37		126	126	1		1	0		0	0	38	0		1	9.331741e-01	0	0	0	18	0	37	126
ABRA	137735	broad.mit.edu	37	8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587																																						ENST00000311955.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(628-630)caG>caT		actin-binding Rho activating protein							179.0	183.0	182.0					8																	107781789		2203	4300	6503	SO:0001583	missense	137735	0	0					g.chr8:107781789C>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.630G>T	chr8.hg19:g.107781789C>A	ENSP00000311436:p.Gln210His	0						p.Q210H	NM_139166.4	NP_631905.1	0	0	0	1.973482			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)	1	684	-				Missense_Mutation	SNP	ENST00000311955.3	1	1	hg19	c.630G>T	CCDS6305.1	1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377609	0.11466	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	2.04	0.26737	6.07	2.04	0.26737	.	0.741285	0.13532	N	0.380862	T	0.30696	0.0773	L	0.43152	1.355	0.24564	N	0.993958	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	9	0.48119	T	0.1	-32.5051	4.5672	0.12193	0.1199:0.502:0.2599:0.1182	.	210	Q8N0Z2	ABRA_HUMAN	H	210	.	ENSP00000311436:Q210H	Q	-	3	2	2	ABRA	107850965	107850965	0.000000	0.05858	0.989000	0.46669	0.118000	0.20060	-0.066000	0.11598	0.872000	0.35775	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	0	0	0		19	2	2	1		1	1	224		224	221	1	2.060000	-20.000000	1	0.170000	NM_139166			232	224		1055	1009	1		1			1	0	224	0		1	0	0	0	0	0	0	232	1055
TMEM74	157753	broad.mit.edu	37	8	109796947	109796947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493																																						ENST00000297459.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(379-381)tcG>tcA		transmembrane protein 74							76.0	80.0	79.0					8																	109796947		2203	4300	6503	SO:0001819	synonymous_variant	157753	10	121410	41				g.chr8:109796947C>T	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.381G>A	chr8.hg19:g.109796947C>T		0					TMEM74_ENST00000518838.1_Intron	p.S127S	NM_153015.1	NP_694560.1	0	0	0	1.973482	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)	2	559	-				Silent	SNP	ENST00000297459.3	1	1	hg19	c.381G>A	CCDS6310.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.095332	1	0.170000	NM_153015			85	83		384	376	1		1	0		0	0	85	0		1	3.365540e-02	0	0	0	2	0	85	384
TRHR	7201	broad.mit.edu	37	8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	111					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)			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)			GGGAATTAATGCATCCTCTTG	0.453																																						ENST00000518632.1	1.000000	0.690000	1	8.200000e-01	0.960000	0.929680	0.960000	1.000000																										0				37						c.(331-333)Gca>Tca		thyrotropin-releasing hormone receptor							137.0	125.0	129.0					8																	110100072		2203	4300	6503	SO:0001583	missense	7201	0	0					g.chr8:110100072G>T		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.331G>T	chr8.hg19:g.110100072G>T	ENSP00000430711:p.Ala111Ser	0					TRHR_ENST00000311762.2_Missense_Mutation_p.A111S	p.A111S			0	0	0	1.973482	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)	2	682	+			Q2M339	Missense_Mutation	SNP	ENST00000518632.1	1	1	hg19	c.331G>T	CCDS6311.1	1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576023	0.65878	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.75154	-0.91;-0.91	6.06	4.26	0.50523	6.06	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.093441	0.64402	D	0.000001	T	0.80732	0.4679	M	0.74258	2.255	0.47476	D	0.999437	P	0.50443	0.935	P	0.57620	0.824	T	0.80489	-0.1360	10	0.87932	D	0	-15.3417	7.0669	0.25157	0.14:0.0:0.7194:0.1405	.	111	P34981	TRFR_HUMAN	S	111	ENSP00000430711:A111S;ENSP00000309818:A111S	ENSP00000309818:A111S	A	+	1	0	0	TRHR	110169248	110169248	1.000000	0.71417	0.802000	0.32245	0.998000	0.95712	9.860000	0.99555	0.883000	0.36040	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-10.553960	1	0.170000				36	36		394	390	0		1			0	0	99	0		1	0	0	0	0	0	0	36	394
NUDCD1	84955	broad.mit.edu	37	8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299																																						ENST00000239690.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1279-1281)Aca>Gca		NudC domain containing 1							106.0	109.0	108.0					8																	110283254		2203	4295	6498	SO:0001583	missense	84955	0	0					g.chr8:110283254T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1279A>G	chr8.hg19:g.110283254T>C	ENSP00000239690:p.Thr427Ala	0					NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	p.T427A	NM_032869.3	NP_116258.2	0	0	0	1.973482			OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)	8	1653	-	all_neural(195;0.219)			Missense_Mutation	SNP	ENST00000239690.4	1	1	hg19	c.1279A>G	CCDS6312.1	1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294889	0.05568	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18810	2.19;2.19	6.0	3.59	0.41128	6.0	3.59	0.41128	.	0.210241	0.49305	D	0.000152	T	0.12774	0.0310	L	0.39397	1.21	0.09310	N	0.999999	B;B;B	0.27498	0.18;0.001;0.043	B;B;B	0.22753	0.041;0.002;0.018	T	0.28073	-1.0055	10	0.17369	T	0.5	-0.6864	3.6097	0.08055	0.1331:0.0704:0.1391:0.6574	.	340;427;398	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	A	427;398	ENSP00000239690:T427A;ENSP00000410707:T398A	ENSP00000239690:T427A	T	-	1	0	0	NUDCD1	110352430	110352430	0.997000	0.39634	0.107000	0.21349	0.002000	0.02628	2.764000	0.47613	0.494000	0.27859	-0.256000	0.11100	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_032869			85	80		283	278	1		1	1		0	0	95	0		1	9.999995e-01	0	21	0	51	0	85	283
PKHD1L1	93035	broad.mit.edu	37	8	110408262	110408262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110408262C>T	ENST00000378402.5	+	11	922	c.818C>T	c.(817-819)aCc>aTc	p.T273I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	273	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CCAGAGGTCACCATGATTTTC	0.383										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.997710	0.990000	1.000000																										0				263						c.(817-819)aCc>aTc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							59.0	51.0	53.0					8																	110408262		1973	4170	6143	SO:0001583	missense	93035	0	0					g.chr8:110408262C>T	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.818C>T	chr8.hg19:g.110408262C>T	ENSP00000367655:p.Thr273Ile	0	HNSCC(38;0.096)					p.T273I	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	11	922	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	0	1	hg19	c.818C>T	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388695	0.25118	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.8	3.94	0.45596	5.8	3.94	0.45596	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.192761	0.43579	D	0.000543	D	0.83166	0.5195	M	0.83384	2.64	0.58432	D	0.999996	D	0.53151	0.958	P	0.53988	0.739	T	0.80910	-0.1171	10	0.31617	T	0.26	.	10.0449	0.42180	0.0:0.7851:0.1381:0.0767	.	273	Q86WI1	PKHL1_HUMAN	I	273	ENSP00000367655:T273I	ENSP00000367655:T273I	T	+	2	0	0	PKHD1L1	110477438	110477438	0.967000	0.33354	0.404000	0.26397	0.024000	0.10985	2.277000	0.43417	0.740000	0.32651	0.650000	0.86243	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.963480	1	0.170000	NM_177531			11	11		47	45	0		1			0	0	8	0		9.986340e-01	0	0	0	0	0	0	11	47
PKHD1L1	93035	broad.mit.edu	37	8	110442244	110442244	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1069	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CTCCCCTAGTCTTGGCGATAA	0.368										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999288	0.990000	1.000000																										0				263						c.(3205-3207)gtC>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							124.0	110.0	115.0					8																	110442244		1871	4112	5983	SO:0001819	synonymous_variant	93035	0	0					g.chr8:110442244C>A	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.3207C>A	chr8.hg19:g.110442244C>A		0	HNSCC(38;0.096)					p.V1069V	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	27	3311	+			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	1	1	hg19	c.3207C>A	CCDS47911.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_177531			18	18		92	91	1		1			0	0	24	0		9.999889e-01	0	0	0	0	0	0	18	92
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CCTCTCCCAGTTGGACATCAT	0.453										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				263						c.(5419-5421)gTt>gCt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							122.0	117.0	119.0					8																	110457518		1966	4172	6138	SO:0001583	missense	93035	0	0					g.chr8:110457518T>C	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.5420T>C	chr8.hg19:g.110457518T>C	ENSP00000367655:p.Val1807Ala	0	HNSCC(38;0.096)					p.V1807A	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	38	5524	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	1	1	hg19	c.5420T>C	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	T	2.733	-0.263898	0.05754	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	6.03	5.15	0.70609	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061993	0.64402	N	0.000005	T	0.42223	0.1193	N	0.01228	-0.945	0.34605	D	0.716951	B	0.02656	0.0	B	0.06405	0.002	T	0.50558	-0.8814	10	0.02654	T	1	.	12.3253	0.55007	0.0:0.9171:0.0:0.0829	.	1807	Q86WI1	PKHL1_HUMAN	A	1807	ENSP00000367655:V1807A	ENSP00000367655:V1807A	V	+	2	0	0	PKHD1L1	110526694	110526694	0.999000	0.42202	0.988000	0.46212	0.394000	0.30568	2.764000	0.47613	1.532000	0.49169	-0.242000	0.12053	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000	NM_177531			84	83		317	313	1		1			0	0	88	0		1	0	0	0	0	0	0	84	317
PKHD1L1	93035	broad.mit.edu	37	8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2357					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CATAAACATAACACTAAGTAA	0.348										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				263						c.(7069-7071)Aca>Gca		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							64.0	62.0	62.0					8																	110471888		1867	4114	5981	SO:0001583	missense	93035	0	0					g.chr8:110471888A>G	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.7069A>G	chr8.hg19:g.110471888A>G	ENSP00000367655:p.Thr2357Ala	0	HNSCC(38;0.096)					p.T2357A	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	47	7173	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	1	1	hg19	c.7069A>G	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382117	0.42207	.	.	ENSG00000205038	ENST00000378402	D	0.93133	-3.17	5.44	4.26	0.50523	5.44	4.26	0.50523	.	0.060492	0.64402	D	0.000005	D	0.91036	0.7180	M	0.68952	2.095	0.09310	N	1	B	0.22604	0.072	B	0.25506	0.061	T	0.80991	-0.1135	10	0.30854	T	0.27	.	9.9275	0.41501	0.8475:0.0:0.0:0.1525	.	2357	Q86WI1	PKHL1_HUMAN	A	2357	ENSP00000367655:T2357A	ENSP00000367655:T2357A	T	+	1	0	0	PKHD1L1	110541064	110541064	0.927000	0.31430	0.014000	0.15608	0.929000	0.56500	4.668000	0.61568	0.881000	0.35993	0.374000	0.22700	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_177531			19	19		52	52	1		1			0	0	12	0		9.999969e-01	0	0	0	0	0	0	19	52
PKHD1L1	93035	broad.mit.edu	37	8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2827					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			ACTCAGGAAGCTGAGTGGAGC	0.448										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.750000	1	9.900000e-01	0.990000	0.981926	0.990000	1.000000																										0				263						c.(8479-8481)gCt>gAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							98.0	91.0	93.0					8																	110478873		1954	4168	6122	SO:0001583	missense	93035	0	0					g.chr8:110478873C>A	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.8480C>A	chr8.hg19:g.110478873C>A	ENSP00000367655:p.Ala2827Asp	0	HNSCC(38;0.096)					p.A2827D	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	50	8584	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	0	1	hg19	c.8480C>A	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338684	0.24253	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.16	4.26	0.50523	6.16	4.26	0.50523	.	0.606576	0.16114	N	0.228944	T	0.80330	0.4603	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.62539	-0.6833	10	0.11485	T	0.65	.	8.8625	0.35267	0.3014:0.553:0.1456:0.0	.	2827	Q86WI1	PKHL1_HUMAN	D	2827	ENSP00000367655:A2827D	ENSP00000367655:A2827D	A	+	2	0	0	PKHD1L1	110548049	110548049	0.002000	0.14202	0.098000	0.21074	0.605000	0.37080	1.615000	0.36922	1.597000	0.50072	0.650000	0.86243	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-17.649680	1	0.170000	NM_177531			10	10		68	68	1		1			0	0	16	0		9.975151e-01	0	0	0	0	0	0	10	68
PKHD1L1	93035	broad.mit.edu	37	8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2856					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			TCTCCAGTATCTCTGCTTGAA	0.398										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.350000	1	5.200000e-01	0.730000	0.739379	0.730000	1.000000																										0				263						c.(8566-8568)tCt>tAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138.0	125.0	129.0					8																	110478960		1908	4125	6033	SO:0001583	missense	93035	0	0					g.chr8:110478960C>A	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.8567C>A	chr8.hg19:g.110478960C>A	ENSP00000367655:p.Ser2856Tyr	0	HNSCC(38;0.096)					p.S2856Y	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	50	8671	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	1	1	hg19	c.8567C>A	CCDS47911.1	0	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095845	0.76870	.	.	ENSG00000205038	ENST00000378402	D	0.88124	-2.34	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.065168	0.64402	D	0.000006	D	0.91395	0.7285	M	0.74258	2.255	0.43863	D	0.996461	P	0.46578	0.88	P	0.51701	0.677	D	0.91602	0.5296	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2856	Q86WI1	PKHL1_HUMAN	Y	2856	ENSP00000367655:S2856Y	ENSP00000367655:S2856Y	S	+	2	0	0	PKHD1L1	110548136	110548136	1.000000	0.71417	0.755000	0.31263	0.434000	0.31775	6.559000	0.73946	2.937000	0.99478	0.650000	0.86243	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-11.920630	1	0.170000	NM_177531			8	8		121	120	0		1			0	0	22	0		9.897800e-01	0	0	0	0	0	0	8	121
PKHD1L1	93035	broad.mit.edu	37	8	110503218	110503218	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	ENST00000378402.5	+	61	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3334					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			AACATGGCTCATCTTATATTC	0.318										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				263						c.(10000-10002)tcA>tcG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							103.0	89.0	93.0					8																	110503218		1872	4104	5976	SO:0001819	synonymous_variant	93035	0	0					g.chr8:110503218A>G	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.10002A>G	chr8.hg19:g.110503218A>G		0	HNSCC(38;0.096)					p.S3334S	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	61	10106	+			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	0	1	hg19	c.10002A>G	CCDS47911.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_177531			50	47		191	188	0		1			0	0	43	0		1	0	0	0	0	0	0	50	191
PKHD1L1	93035	broad.mit.edu	37	8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3419					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			GGGACCAATACAGTTTTACAG	0.358										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				263						c.(10255-10257)aCa>aTa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							76.0	77.0	77.0					8																	110505909		1822	4068	5890	SO:0001583	missense	93035	0	0					g.chr8:110505909C>T	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.10256C>T	chr8.hg19:g.110505909C>T	ENSP00000367655:p.Thr3419Ile	0	HNSCC(38;0.096)					p.T3419I	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	63	10360	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	1	1	hg19	c.10256C>T	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079808	0.20309	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79749	-1.3;-1.3	6.08	6.08	0.98989	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.201560	0.43747	D	0.000533	T	0.65217	0.2670	N	0.12569	0.235	0.27387	N	0.955256	B	0.18310	0.027	B	0.24701	0.055	T	0.52472	-0.8571	10	0.21014	T	0.42	.	11.4294	0.50032	0.0:0.919:0.0:0.081	.	3419	Q86WI1	PKHL1_HUMAN	I	3419;347	ENSP00000367655:T3419I;ENSP00000437376:T347I	ENSP00000367655:T3419I	T	+	2	0	0	PKHD1L1	110575085	110575085	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.764000	0.62264	2.894000	0.99253	0.591000	0.81541	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		18	2	2	0		0	1	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_177531			26	26		114	109	1		1			0	0	22	0		9.073837e-01	0	0	0	0	0	0	26	114
PKHD1L1	93035	broad.mit.edu	37	8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3444					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CTCCAAGGCCAGTTTAATCCT	0.353										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				263						c.(10330-10332)cAg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							143.0	135.0	138.0					8																	110509151		1809	4077	5886	SO:0001583	missense	93035	0	0					g.chr8:110509151A>C	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.10331A>C	chr8.hg19:g.110509151A>C	ENSP00000367655:p.Gln3444Pro	0	HNSCC(38;0.096)					p.Q3444P	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	64	10435	+			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	1	1	hg19	c.10331A>C	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	A	5.872	0.345001	0.11126	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80480	-1.38;-1.38	5.64	1.7	0.24286	5.64	1.7	0.24286	Pectin lyase fold/virulence factor (1);	0.537282	0.18922	N	0.127454	T	0.70684	0.3252	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.56601	-0.7952	10	0.33141	T	0.24	.	5.5863	0.17277	0.5405:0.1574:0.0:0.3021	.	3444	Q86WI1	PKHL1_HUMAN	P	3444;372	ENSP00000367655:Q3444P;ENSP00000437376:Q372P	ENSP00000367655:Q3444P	Q	+	2	0	0	PKHD1L1	110578327	110578327	0.180000	0.23148	0.176000	0.23000	0.438000	0.31896	0.570000	0.23653	0.044000	0.15775	0.528000	0.53228	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-20.000000	1	0.170000	NM_177531			59	58		337	325	1		1			0	0	86	0		1	0	0	0	0	0	0	59	337
PKHD1L1	93035	broad.mit.edu	37	8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3495					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			GCAGACCACAGAGAGTGTGCA	0.328										HNSCC(38;0.096)																												ENST00000378402.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				263						c.(10483-10485)Gag>Tag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							119.0	111.0	113.0					8																	110509385		1840	4097	5937	SO:0001587	stop_gained	93035	0	0					g.chr8:110509385G>T	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.10483G>T	chr8.hg19:g.110509385G>T	ENSP00000367655:p.Glu3495*	0	HNSCC(38;0.096)					p.E3495*	NM_177531.4	NP_803875.2	0	0	0	1.973482	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)	65	10587	+			Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	0	1	hg19	c.10483G>T	CCDS47911.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.553308	0.97658	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	3495;423	.	ENSP00000367655:E3495X	E	+	1	0	0	PKHD1L1	110578561	110578561	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.411000	0.59781	2.857000	0.98124	0.650000	0.86243	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-2.966801	1	0.170000	NM_177531			48	46		315	311	1		1	0		0	0	74	0		1	0	0	1	0	0	0	48	315
MTMR9	66036	broad.mit.edu	37	8	11157552	11157552	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000221086.3	+	3	785	c.312C>A	c.(310-312)tcC>tcA	p.S104S	MTMR9_ENST00000526292.1_Silent_p.S19S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	104						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			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)		CTCTGGACTCCATCACTCTGA	0.383																																						ENST00000221086.3	0.590000	0.300000	5.200000e-01	3.600000e-01	0.430000	0.445447	0.430000	0.430000																										0				16						c.(310-312)tcC>tcA		myotubularin related protein 9							186.0	175.0	179.0					8																	11157552		2203	4300	6503	SO:0001819	synonymous_variant	66036	0	0					g.chr8:11157552C>A	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.312C>A	chr8.hg19:g.11157552C>A		0					MTMR9_ENST00000526292.1_Silent_p.S19S	p.S104S	NM_015458.3	NP_056273.2	0	0	0	1.973482	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	3	785	+			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	1	1	hg19	c.312C>A	CCDS5979.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	0	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-3.266704	1	0.170000	NM_015458			33	33		847	826	0		1	0		0	0	139	0		1	4.677751e-01	0	0	0	41	0	33	847
MTMR9	66036	broad.mit.edu	37	8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000221086.3	+	5	1260	c.787C>T	c.(787-789)Cga>Tga	p.R263*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	263	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			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)		TCAGTGGAGGCGAATTCATAA	0.433																																						ENST00000221086.3	0.780000	0.220000	6.200000e-01	3.200000e-01	0.460000	0.481405	0.460000	0.440000																										0				16						c.(787-789)Cga>Tga		myotubularin related protein 9							81.0	66.0	71.0					8																	11163894		2203	4300	6503	SO:0001587	stop_gained	66036	0	0					g.chr8:11163894C>T	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.787C>T	chr8.hg19:g.11163894C>T	ENSP00000221086:p.Arg263*	0					MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	p.R263*	NM_015458.3	NP_056273.2	0	0	0	1.973482	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	5	1260	+			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	0	1	hg19	c.787C>T	CCDS5979.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.287206	0.98189	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.67	4.78	0.61160	5.67	4.78	0.61160	.	0.046380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.4248	0.61020	0.3:0.7:0.0:0.0	.	.	.	.	X	263;178	.	ENSP00000221086:R263X	R	+	1	2	2	MTMR9	11201304	11201304	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.521000	0.35910	1.362000	0.46000	0.557000	0.71058	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-10.725880	1	0.170000	NM_015458			9	8		225	222	0		1	0		0	0	40	0		9.940259e-01	2.707435e-01	0	0	0	24	0	9	225
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	C	T	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000221086.3	+	10	2102	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Silent_p.D458D	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	543						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			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)		AAACAGAGGACGGGATGCAGG	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0					ENST00000221086.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(1627-1629)gaC>gaT		myotubularin related protein 9		C		2,4404	4.2+/-10.8	0,2,2201	78.0	75.0	76.0		1629	-6.0	0.0	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	MTMR9	NM_015458.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		543/550	11180276	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	66036	6	121412	39				g.chr8:11180276C>T	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.1629C>T	chr8.hg19:g.11180276C>T		0					AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Silent_p.D458D	p.D543D	NM_015458.3	NP_056273.2	0	0	0	1.973482	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	10	2102	+			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	1	1	hg19	c.1629C>T	CCDS5979.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_015458			49	49		249	247	1		1	1		0	0	72	0		1	9.647891e-01	0	3	0	27	0	49	249
FAM167A	83648	broad.mit.edu	37	8	11301625	11301625	+	Missense_Mutation	SNP	C	C	A	rs78823081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11301625C>A	ENST00000528897.1	-	2	915	c.296G>T	c.(295-297)aGc>aTc	p.S99I	FAM167A_ENST00000534308.1_Missense_Mutation_p.S99I|FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000284486.4_Missense_Mutation_p.S99I			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	99										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGCACCTTGGCTGGCACTCCT	0.652																																						ENST00000528897.1	1.000000	0.710000	1	8.400000e-01	0.990000	0.940914	0.990000	1.000000																										0				9						c.(295-297)aGc>aTc		family with sequence similarity 167, member A							32.0	37.0	36.0					8																	11301625		2124	4260	6384	SO:0001583	missense	83648	0	0					g.chr8:11301625C>A		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.296G>T	chr8.hg19:g.11301625C>A	ENSP00000436655:p.Ser99Ile	0					FAM167A_ENST00000534308.1_Missense_Mutation_p.S99I|FAM167A_ENST00000284486.4_Missense_Mutation_p.S99I|FAM167A_ENST00000531564.1_5'Flank	p.S99I			0	0	0	1.973482	Q96KS9	F167A_HUMAN		2	915	-			A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	1	0	hg19	c.296G>T	CCDS5981.1	1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900422	0.33535	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	T;T;T	0.08634	3.07;3.07;3.07	5.42	1.44	0.22558	5.42	1.44	0.22558	.	1.105750	0.06575	N	0.749347	T	0.07007	0.0178	L	0.40543	1.245	0.09310	N	1	P	0.34780	0.468	B	0.26969	0.075	T	0.36792	-0.9733	10	0.62326	D	0.03	-0.1598	4.9173	0.13853	0.0:0.4039:0.274:0.3221	.	99	Q96KS9	F167A_HUMAN	I	99	ENSP00000284486:S99I;ENSP00000432232:S99I;ENSP00000436655:S99I	ENSP00000284486:S99I	S	-	2	0	0	FAM167A	11339035	11339035	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.265000	0.18515	0.664000	0.31047	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-3.318794	1	0.170000				37	37		395	387	0		1	0		0	0	57	0		1	6.508388e-02	0	0	0	5	0	37	395
EBAG9	9166	broad.mit.edu	37	8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000337573.5	+	5	632	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	111					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313																																						ENST00000337573.5	1.000000	0.640000	1	8.700000e-01	0.990000	0.952874	0.990000	1.000000																										0				10						c.(331-333)aAg>aTg		estrogen receptor binding site associated, antigen, 9							70.0	66.0	67.0					8																	110569174		2202	4299	6501	SO:0001583	missense	9166	0	0					g.chr8:110569174A>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.332A>T	chr8.hg19:g.110569174A>T	ENSP00000337675:p.Lys111Met	0					EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	0	0	0	1.973482	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)	5	632	+			A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	1	1	hg19	c.332A>T	CCDS6313.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422701	0.83559	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.69258	-0.5192	9	0.87932	D	0	-3.5603	15.4632	0.75377	1.0:0.0:0.0:0.0	.	111	O00559	RCAS1_HUMAN	M	111;14;111;111;111	.	ENSP00000337675:K111M	K	+	2	0	0	EBAG9	110638350	110638350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.618000	0.90932	2.307000	0.77673	0.528000	0.53228	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-18.752730	1	0.170000	NM_004215			12	12		108	107	1		1	1		0	0	28	0		9.992416e-01	9.997084e-01	0	27	0	111	0	12	108
CSMD3	114788	broad.mit.edu	37	8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3678						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CATGGGATTTTCAAAAGCTGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(11032-11034)gAa>gCa		CUB and Sushi multiple domains 3							375.0	334.0	348.0					8																	113237091		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113237091T>G	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.11033A>C	chr8.hg19:g.113237091T>G	ENSP00000297405:p.Glu3678Ala	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A	p.E3678A	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		71	11277	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.11033A>C	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128914	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.36;1.34;1.44;1.0;1.4	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.961	D;D;P	0.80764	0.994;0.986;0.712	T	0.69548	-0.5116	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	3509;3678;3638	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3638;3678;2948;3509;3608	ENSP00000345799:E3638A;ENSP00000297405:E3678A;ENSP00000341558:E2948A;ENSP00000412263:E3509A;ENSP00000343124:E3608A	ENSP00000297405:E3678A	E	-	2	0	0	CSMD3	113306267	113306267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	135		135	135	1	2.060000	-20.000000	1	0.170000	NM_052900			111	110		546	535	1		1			0	0	135	0		1	0	0	0	0	0	0	111	546
CSMD3	114788	broad.mit.edu	37	8	113246693	113246693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000352409.3_Silent_p.S3477S|CSMD3_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000455883.2_Silent_p.S3378S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						GAGCTTCCTGGCTTTTATATA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(10639-10641)agC>agT		CUB and Sushi multiple domains 3							140.0	137.0	138.0					8																	113246693		2203	4299	6502	SO:0001819	synonymous_variant	114788	0	0					g.chr8:113246693G>A	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.10641C>T	chr8.hg19:g.113246693G>A		0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.S3477S|CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000343508.3_Silent_p.S3507S	p.S3547S	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		68	10885	-			Q96PZ3	Silent	SNP	ENST00000297405.5	1	1	hg19	c.10641C>T	CCDS6315.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-20.000000	1	0.170000	NM_052900			102	99		431	422	1		1			0	0	113	0		1	0	0	0	0	0	0	102	431
CSMD3	114788	broad.mit.edu	37	8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2724	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CAGGGTCACAGCTGAAAACTA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				646						c.(8170-8172)agC>agA		CUB and Sushi multiple domains 3							125.0	107.0	113.0					8																	113317044		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113317044G>T	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.8172C>A	chr8.hg19:g.113317044G>T	ENSP00000297405:p.Ser2724Arg	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R	p.S2724R	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		52	8416	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.8172C>A	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158734	0.38119	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.04	1.25	0.21368	5.04	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.071935	0.56097	D	0.000029	T	0.48978	0.1530	L	0.28504	0.86	0.42354	D	0.992383	B;P	0.44877	0.428;0.845	B;P	0.44860	0.309;0.462	T	0.30679	-0.9970	10	0.28530	T	0.3	.	9.3541	0.38155	0.3569:0.0:0.6431:0.0	.	2724;2684	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2684;2724;1994;2654	ENSP00000345799:S2684R;ENSP00000297405:S2724R;ENSP00000341558:S1994R;ENSP00000343124:S2654R	ENSP00000297405:S2724R	S	-	3	2	2	CSMD3	113386220	113386220	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.787000	0.47798	-0.000000	0.14550	-0.150000	0.13652	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_052900			42	42		239	235	1		1			0	0	70	0		1	0	0	0	0	0	0	42	239
CSMD3	114788	broad.mit.edu	37	8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2374	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						GAAATCACTGTGGAATTTGAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(7120-7122)cAc>cGc		CUB and Sushi multiple domains 3							112.0	106.0	108.0					8																	113347602		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113347602T>C	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.7121A>G	chr8.hg19:g.113347602T>C	ENSP00000297405:p.His2374Arg	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R	p.H2374R	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		45	7365	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.7121A>G	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755265	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.68	4.68	0.58851	4.68	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.20357	0.565	0.54753	D	0.999988	D;D;P	0.69078	0.997;0.996;0.627	D;D;P	0.83275	0.996;0.996;0.646	T	0.58595	-0.7609	10	0.25751	T	0.34	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2270;2374;2334	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2334;2374;1644;2270;2304	ENSP00000345799:H2334R;ENSP00000297405:H2374R;ENSP00000341558:H1644R;ENSP00000412263:H2270R;ENSP00000343124:H2304R	ENSP00000297405:H2374R	H	-	2	0	0	CSMD3	113416778	113416778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.094000	0.63399	0.477000	0.44152	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000	NM_052900			43	43		174	172	0		1			0	0	34	0		1	0	0	0	0	0	0	43	174
CSMD3	114788	broad.mit.edu	37	8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2328	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TCTGTTTGAAGGACAGTAAAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(6982-6984)Ctt>Att		CUB and Sushi multiple domains 3							116.0	116.0	116.0					8																	113348918		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113348918G>T	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.6982C>A	chr8.hg19:g.113348918G>T	ENSP00000297405:p.Leu2328Ile	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I	p.L2328I	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		44	7226	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.6982C>A	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480405	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	5.64	5.64	0.86602	CUB (5);	0.193950	0.34025	N	0.004330	T	0.40956	0.1138	L	0.39245	1.2	0.49213	D	0.999767	B;B;D	0.89917	0.145;0.02;1.0	B;B;D	0.91635	0.159;0.074;0.999	T	0.02893	-1.1097	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2224;2328;2288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2288;2328;1598;2224;2258	ENSP00000345799:L2288I;ENSP00000297405:L2328I;ENSP00000341558:L1598I;ENSP00000412263:L2224I;ENSP00000343124:L2258I	ENSP00000297405:L2328I	L	-	1	0	0	CSMD3	113418094	113418094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.937000	0.99478	0.650000	0.86243	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	173		173	172	1	2.060000	-2.915366	1	0.170000	NM_052900			93	92		438	433	1		1			0	0	173	0		1	0	0	0	0	0	0	93	438
CSMD3	114788	broad.mit.edu	37	8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2118	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CACACCACTGAAGTCTGACAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	0.720000	0.250000	5.900000e-01	3.400000e-01	0.450000	0.472603	0.450000	0.440000																										0				646						c.(6352-6354)tTc>tGc		CUB and Sushi multiple domains 3							106.0	107.0	107.0					8																	113358415		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113358415A>C	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.6353T>G	chr8.hg19:g.113358415A>C	ENSP00000297405:p.Phe2118Cys	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C	p.F2118C	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		41	6597	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.6353T>G	CCDS6315.1	0	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235999	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	5.44	5.44	0.79542	CUB (5);	0.071493	0.56097	D	0.000031	T	0.29620	0.0739	L	0.34521	1.04	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.973;0.994	D;P;D	0.66497	0.944;0.852;0.916	T	0.01259	-1.1403	10	0.39692	T	0.17	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	2014;2118;2078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2078;2118;1388;2014;2048	ENSP00000345799:F2078C;ENSP00000297405:F2118C;ENSP00000341558:F1388C;ENSP00000412263:F2014C;ENSP00000343124:F2048C	ENSP00000297405:F2118C	F	-	2	0	0	CSMD3	113427591	113427591	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.097000	0.94193	2.285000	0.76669	0.528000	0.53228	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-4.164572	1	0.170000	NM_052900			13	13		324	317	0		1			0	0	96	0		9.994923e-01	0	0	0	0	0	0	13	324
CSMD3	114788	broad.mit.edu	37	8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1902	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TTACAATCAAAAAGAACCGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(5704-5706)Ttt>Gtt		CUB and Sushi multiple domains 3							121.0	116.0	118.0					8																	113418858		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113418858A>C	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.5704T>G	chr8.hg19:g.113418858A>C	ENSP00000297405:p.Phe1902Val	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V	p.F1902V	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		35	5948	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.5704T>G	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817349	0.90790	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.91	4.91	0.64330	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92691	3.335	0.48040	D	0.999579	D;B;D	0.76494	0.985;0.016;0.999	P;B;D	0.91635	0.771;0.02;0.999	D	0.88209	0.2889	10	0.52906	T	0.07	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1798;1902;1862	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1862;1902;1172;1798;1832	ENSP00000345799:F1862V;ENSP00000297405:F1902V;ENSP00000341558:F1172V;ENSP00000412263:F1798V;ENSP00000343124:F1832V	ENSP00000297405:F1902V	F	-	1	0	0	CSMD3	113488034	113488034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_052900			85	83		366	361	1		1			0	0	87	0		1	0	0	0	0	0	0	85	366
CSMD3	114788	broad.mit.edu	37	8	113504912	113504912	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000352409.3_Splice_Site_p.A1695V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V|CSMD3_ENST00000455883.2_Splice_Site_p.A1591V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1695	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TCGCAGTTTTGCTGTAAAACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(5083-5085)gCa>gTa		CUB and Sushi multiple domains 3							103.0	97.0	99.0					8																	113504912		2203	4300	6503	SO:0001630	splice_region_variant	114788	0	0					g.chr8:113504912G>A	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.5084-1C>T	chr8.hg19:g.113504912G>A		0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.A1695V|CSMD3_ENST00000455883.2_Splice_Site_p.A1591V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V	p.A1695V	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		31	5328	-			Q96PZ3	Splice_Site	SNP	ENST00000297405.5	1	0	hg19	c.5084C>T	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650331	0.87958	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.9	4.9	0.64082	4.9	4.9	0.64082	CUB (4);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	L	0.59436	1.845	0.36825	D	0.886589	D;D;P	0.62365	0.991;0.985;0.935	D;P;P	0.63703	0.917;0.828;0.647	T	0.23013	-1.0200	10	0.27785	T	0.31	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1591;1695;1655	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1655;1695;1035;1591;1695	ENSP00000345799:A1655V;ENSP00000297405:A1695V;ENSP00000341558:A1035V;ENSP00000412263:A1591V;ENSP00000343124:A1695V	ENSP00000297405:A1695V	A	-	2	0	0	CSMD3	113574088	113574088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.315000	0.59172	2.704000	0.92352	0.585000	0.79938	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_052900	Missense_Mutation		62	61		301	299	1		1			0	0	75	0		1	0	0	0	0	0	0	62	301
CSMD3	114788	broad.mit.edu	37	8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1601	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						AAGTTTGGTGAAAGAATAAAG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				646						c.(4801-4803)Tca>Gca		CUB and Sushi multiple domains 3							118.0	110.0	113.0					8																	113519014		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113519014A>C	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.4801T>G	chr8.hg19:g.113519014A>C	ENSP00000297405:p.Ser1601Ala	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A	p.S1601A	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		29	5045	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.4801T>G	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406395	0.83230	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.99	4.99	0.66335	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.92649	3.33	0.36203	D	0.850835	P;P;D	0.54772	0.928;0.884;0.968	B;P;P	0.61800	0.335;0.525;0.894	T	0.74910	-0.3503	10	0.40728	T	0.16	.	14.85	0.70289	1.0:0.0:0.0:0.0	.	1497;1601;1561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1561;1601;941;1497;1601	ENSP00000345799:S1561A;ENSP00000297405:S1601A;ENSP00000341558:S941A;ENSP00000412263:S1497A;ENSP00000343124:S1601A	ENSP00000297405:S1601A	S	-	1	0	0	CSMD3	113588190	113588190	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.139000	0.94554	2.091000	0.63221	0.455000	0.32223	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_052900			45	45		261	258	1		1			0	0	48	0		1	0	0	0	0	0	0	45	261
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TAAATTATTTCCATACCCTTC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(2224-2226)gGa>gAa		CUB and Sushi multiple domains 3							86.0	94.0	91.0					8																	113697892		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113697892C>T	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.2225G>A	chr8.hg19:g.113697892C>T	ENSP00000297405:p.Gly742Glu	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E	p.G742E	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		15	2469	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.2225G>A	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098694	0.76870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.72	5.72	0.89469	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40119	0.1104	M	0.66939	2.045	0.52501	D	0.999954	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.97110	0.96;1.0;1.0	T	0.08534	-1.0717	10	0.10902	T	0.67	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	638;742;702	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	702;742;82;638;742	ENSP00000345799:G702E;ENSP00000297405:G742E;ENSP00000341558:G82E;ENSP00000412263:G638E;ENSP00000343124:G742E	ENSP00000297405:G742E	G	-	2	0	0	CSMD3	113767068	113767068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-3.465387	1	0.170000	NM_052900			94	90		403	396	1		1			0	0	104	0		1	0	0	0	0	0	0	94	403
CSMD3	114788	broad.mit.edu	37	8	113812486	113812486	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113812486A>G	ENST00000297405.5	-	13	2121	c.1877T>C	c.(1876-1878)gTa>gCa	p.V626A	CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	626	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CAAGTCTGGTACAAAGCTTCC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	0.500000	0.120000	3.900000e-01	1.800000e-01	0.270000	0.290295	0.270000	0.260000																										0				646						c.(1876-1878)gTa>gCa		CUB and Sushi multiple domains 3							134.0	118.0	123.0					8																	113812486		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113812486A>G	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.1877T>C	chr8.hg19:g.113812486A>G	ENSP00000297405:p.Val626Ala	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A	p.V626A	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		13	2121	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	0	1	hg19	c.1877T>C	CCDS6315.1	0	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409375	0.83340	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.83	5.83	0.93111	5.83	5.83	0.93111	CUB (5);	0.000000	0.64402	D	0.000010	T	0.26159	0.0638	L	0.41079	1.255	0.42957	D	0.994393	P;P;P	0.50819	0.928;0.939;0.826	P;P;B	0.57620	0.591;0.824;0.401	T	0.02668	-1.1126	10	0.09084	T	0.74	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	522;626;586	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	586;626;522;626	ENSP00000345799:V586A;ENSP00000297405:V626A;ENSP00000412263:V522A;ENSP00000343124:V626A	ENSP00000297405:V626A	V	-	2	0	0	CSMD3	113881662	113881662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.127000	0.94417	2.240000	0.73641	0.528000	0.53228	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	0	0		2	2	2	0		0	0	58		58	58	1	2.060000	-7.803357	1	0.170000	NM_052900			7	7		306	302	0		1			0	0	58	0		9.800128e-01	0	0	0	0	0	0	7	306
CSMD3	114788	broad.mit.edu	37	8	114186024	114186024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000352409.3_Silent_p.G212G|CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	212	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						GCTGAGGGTGGCCATCAAGGA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				646						c.(634-636)ggC>ggT		CUB and Sushi multiple domains 3							140.0	128.0	132.0					8																	114186024		2203	4300	6503	SO:0001819	synonymous_variant	114788	0	0					g.chr8:114186024G>A	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.636C>T	chr8.hg19:g.114186024G>A		0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.G212G|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000519485.1_5'UTR	p.G212G	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		4	880	-			Q96PZ3	Silent	SNP	ENST00000297405.5	1	1	hg19	c.636C>T	CCDS6315.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-3.398996	1	0.170000	NM_052900			115	117		459	450	1		1			0	0	94	0		1	0	0	0	0	0	0	115	459
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A	rs377673676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|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)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517																																						ENST00000335135.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(628-630)Gac>Aac		GATA binding protein 4		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	138.0	137.0	138.0		628	5.1	1.0	8		138	0,8600		0,0,4300	no	missense	GATA4	NM_002052.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	210/443	11606439	1,13005	2203	4300	6503	SO:0001583	missense	2626	4	121412	38				g.chr8:11606439G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.628G>A	chr8.hg19:g.11606439G>A	ENSP00000334458:p.Asp210Asn	0					GATA4_ENST00000528712.1_Missense_Mutation_p.D4N|GATA4_ENST00000532059.1_Missense_Mutation_p.D211N	p.D210N	NM_002052.3	NP_002043.2	0	0	0	1.973482	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	3	1186	+	all_epithelial(15;0.0839)		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	1	1	hg19	c.628G>A	CCDS5983.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337542	0.81911	2.27E-4	0.0	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.98996	-5.31;-5.15;-4.74;-4.75	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.69654	0.965;0.703	D	0.99731	1.1012	10	0.62326	D	0.03	0.139	18.0083	0.89216	0.0:0.0:1.0:0.0	.	211;210	B7ZKZ4;P43694	.;GATA4_HUMAN	N	4;4;210;209;211	ENSP00000435043:D4N;ENSP00000435347:D4N;ENSP00000334458:D210N;ENSP00000435712:D211N	ENSP00000259090:D209N	D	+	1	0	0	GATA4	11643848	11643848	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	9.302000	0.96175	2.793000	0.96121	0.655000	0.94253	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	0	0	1		2	2	2	0		0	0	177		177	177	1	2.060000	-20.000000	1	0.170000	NM_002052			143	141		653	646	1		1	1		0	0	177	0		1	8.961416e-01	0	7	0	13	0	143	653
NEIL2	252969	broad.mit.edu	37	8	11643740	11643740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q|NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	319					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CGCAGTGCCAGCCCCAGTTGT	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6	0.890000	0.240000	7.000000e-01	3.500000e-01	0.510000	0.534331	0.510000	0.490000																										0				10						c.(955-957)caG>caA	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							21.0	20.0	21.0					8																	11643740		2195	4290	6485	SO:0001819	synonymous_variant	252969	0	0					g.chr8:11643740G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.957G>A	chr8.hg19:g.11643740G>A		0					NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q	p.Q319Q	NM_145043.2	NP_659480.1	0	0	0	1.973482	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	5	1556	+	all_epithelial(15;0.103)		B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	1	1	hg19	c.957G>A	CCDS5984.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-10.578040	1	0.170000	NM_145043			8	8		180	177	1		1	1		0	0	39	0		9.891446e-01	9.040668e-01	0	11	0	85	0	8	180
FDFT1	2222	broad.mit.edu	37	8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000220584.4	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|RP11-297N6.4_ENST00000533405.1_5'Flank|FDFT1_ENST00000528812.1_5'Flank	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	13					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)			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)		CCGAAGAGTTCTACAACCTGG	0.682																																						ENST00000220584.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				12						c.(37-39)ttC>ttA		farnesyl-diphosphate farnesyltransferase 1							47.0	39.0	42.0					8																	11660380		2203	4300	6503	SO:0001583	missense	2222	0	0					g.chr8:11660380C>A	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.39C>A	chr8.hg19:g.11660380C>A	ENSP00000220584:p.Phe13Leu	0					FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|RP11-297N6.4_ENST00000533405.1_5'Flank|FDFT1_ENST00000528812.1_5'Flank|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L	p.F13L	NM_004462.3	NP_004453.3	0	0	0	1.973482	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	1	261	+	all_epithelial(15;0.234)		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	1	1	hg19	c.39C>A	CCDS5985.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896273	0.52121	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.35236	1.32;1.89;1.86;1.87	5.04	4.17	0.49024	5.04	4.17	0.49024	.	0.183845	0.45867	D	0.000328	T	0.17323	0.0416	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09378	-1.0677	10	0.02654	T	1	-27.1942	8.0589	0.30621	0.1569:0.7621:0.0:0.081	.	13;13;13	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	L	13	ENSP00000431852:F13L;ENSP00000220584:F13L;ENSP00000390367:F13L;ENSP00000434714:F13L	ENSP00000220584:F13L	F	+	3	2	2	FDFT1	11697789	11697789	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.312000	0.19397	1.266000	0.44231	0.485000	0.47835	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-20.000000	1	0.170000				25	25		72	71	1		1	1		0	0	14	0		1	1	0	178	0	327	0	25	72
CSMD3	114788	broad.mit.edu	37	8	114290828	114290828	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000352409.3_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	169	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TACCTTCGTAATATACCTTAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.620000	1	7.800000e-01	0.970000	0.914773	0.970000	1.000000																										0				646						c.(505-507)taT>taC		CUB and Sushi multiple domains 3							116.0	98.0	104.0					8																	114290828		2203	4300	6503	SO:0001819	synonymous_variant	114788	0	0					g.chr8:114290828A>G	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.507T>C	chr8.hg19:g.114290828A>G		0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.Y169Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y	p.Y169Y	NM_198123.1	NP_937756.1	0	0	0	1.973482	Q7Z407	CSMD3_HUMAN		3	751	-			Q96PZ3	Silent	SNP	ENST00000297405.5	1	1	hg19	c.507T>C	CCDS6315.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_052900			21	21		230	228	0		1			0	0	52	0		9.999979e-01	0	0	0	0	0	0	21	230
TRPS1	7227	broad.mit.edu	37	8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000220888.5	-	3	1733	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	TRPS1_ENST00000395715.3_Missense_Mutation_p.C538Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					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)			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)			ACAGAACTGACAATTATAGCT	0.463									Langer-Giedion syndrome																													ENST00000220888.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(1573-1575)tGt>tAt		trichorhinophalangeal syndrome I							149.0	146.0	147.0					8																	116616583		1902	4125	6027	SO:0001583	missense	7227	0	0		Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	g.chr8:116616583C>T	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.1574G>A	chr8.hg19:g.116616583C>T	ENSP00000220888:p.Cys525Tyr	0					TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.C538Y	p.C525Y			0	0	0	1.973482	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)	3	1733	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	1	1	hg19	c.1574G>A		1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668845	0.67814	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63056	-0.6722	10	0.87932	D	0	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	529;525;538	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	538;525;529;525	ENSP00000379065:C538Y;ENSP00000220888:C525Y;ENSP00000428680:C529Y;ENSP00000429174:C525Y	ENSP00000220888:C525Y	C	-	2	0	0	TRPS1	116685758	116685758	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.419000	0.80179	2.793000	0.96121	0.591000	0.81541	TGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	1	0	1		2	2	2	0		0	0	142		142	140	1	2.060000	-20.000000	1	0.170000	NM_014112			132	131		621	607	1		1	1		0	0	142	0		1	9.670822e-01	0	11	0	17	0	132	621
FDFT1	2222	broad.mit.edu	37	8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000220584.4	+	3	583	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	121					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)			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)		GGATCGCCAGGTGCTGGAGGA	0.507																																						ENST00000220584.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				12						c.(361-363)Gtg>Atg		farnesyl-diphosphate farnesyltransferase 1							89.0	70.0	77.0					8																	11667339		2203	4300	6503	SO:0001583	missense	2222	1	121412	23				g.chr8:11667339G>A	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.361G>A	chr8.hg19:g.11667339G>A	ENSP00000220584:p.Val121Met	0					FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M	p.V121M	NM_004462.3	NP_004453.3	0	0	0	1.973482	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	3	583	+	all_epithelial(15;0.234)		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	1	1	hg19	c.361G>A	CCDS5985.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826881	0.90955	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;D;T;T;T;T;T	0.82255	-0.99;-0.99;-0.99;-1.59;-0.99;-0.99;-0.99;-0.99;-0.99	4.71	4.71	0.59529	4.71	4.71	0.59529	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.995;0.995	D	0.92624	0.6110	10	0.72032	D	0.01	-34.0136	17.1687	0.86822	0.0:0.0:1.0:0.0	.	121;178;114;121	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	M	10;121;121;121;114;57;57;36;36	ENSP00000444248:V10M;ENSP00000431852:V121M;ENSP00000220584:V121M;ENSP00000390367:V121M;ENSP00000434714:V114M;ENSP00000431749:V57M;ENSP00000432331:V57M;ENSP00000431649:V36M;ENSP00000436069:V36M	ENSP00000220584:V121M	V	+	1	0	0	FDFT1	11704748	11704748	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.302000	0.96175	2.602000	0.87976	0.491000	0.48974	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000				38	36		167	164	1		1	1		0	0	39	0		1	1	0	283	0	562	0	38	167
FDFT1	2222	broad.mit.edu	37	8	11687884	11687884	+	Silent	SNP	G	G	A	rs150271048	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000220584.4	+	6	1056	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	278					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)			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)		CCTACCTTTCGAGACTCAGAA	0.502													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		19056	0.0		0.0	False		,,,				2504	0.0					ENST00000220584.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(832-834)tcG>tcA		farnesyl-diphosphate farnesyltransferase 1		G		2,4404	4.2+/-10.8	0,2,2201	175.0	152.0	160.0		834	-11.3	0.0	8	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	FDFT1	NM_004462.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		278/418	11687884	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2222	7	121412	46				g.chr8:11687884G>A	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.834G>A	chr8.hg19:g.11687884G>A		0					FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S	p.S278S	NM_004462.3	NP_004453.3	0	0	0	1.973482	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	6	1056	+	all_epithelial(15;0.234)		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	1	1	hg19	c.834G>A	CCDS5985.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.307013	1	0.170000				101	99		416	407	1		1	1		0	0	114	0		1	1	0	260	0	576	0	101	416
CTSB	1508	broad.mit.edu	37	8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	128					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)			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)		ACGCTGACGTGCGCATTGGTG	0.647																																						ENST00000353047.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(382-384)Cac>Tac		cathepsin B							63.0	49.0	54.0					8																	11706619		2203	4300	6503	SO:0001583	missense	1508	0	0					g.chr8:11706619G>A	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.382C>T	chr8.hg19:g.11706619G>A	ENSP00000345672:p.His128Tyr	0					CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y	p.H128Y	NM_001908.3	NP_001899.1	0	0	0	1.973482	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	5	635	-	all_epithelial(15;0.205)		B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	1	1	hg19	c.382C>T	CCDS5986.1	1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236222	0.39498	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.54	0.945	0.19543	5.54	0.945	0.19543	Peptidase C1A, papain C-terminal (2);	0.753217	0.12991	N	0.422495	T	0.78805	0.4341	N	0.17631	0.505	0.20307	N	0.999912	B	0.02656	0.0	B	0.04013	0.001	T	0.68096	-0.5499	10	0.87932	D	0	.	13.8957	0.63770	0.0:0.0:0.3848:0.6152	.	128	P07858	CATB_HUMAN	Y	128;128;128;128;128;128;128;128;34;128;128;128;128;128;128;128	ENSP00000415889:H128Y;ENSP00000345672:H128Y;ENSP00000435105:H128Y;ENSP00000433215:H128Y;ENSP00000409917:H128Y;ENSP00000342070:H128Y;ENSP00000432244:H128Y;ENSP00000434217:H128Y;ENSP00000436159:H128Y;ENSP00000433995:H128Y;ENSP00000435074:H128Y;ENSP00000436627:H128Y;ENSP00000434725:H128Y;ENSP00000436122:H128Y;ENSP00000431518:H128Y	ENSP00000342070:H128Y	H	-	1	0	0	CTSB	11744028	11744028	0.678000	0.27586	0.000000	0.03702	0.893000	0.52053	1.123000	0.31308	0.206000	0.20587	0.462000	0.41574	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	1	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-20.000000	1	0.170000	NM_147780			38	38		160	159	1		1	1		0	0	41	0		1	1	0	997	0	6753	0	38	160
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000220888.5	-	3	1204	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408									Langer-Giedion syndrome																													ENST00000220888.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E349K(1)	large_intestine(1)	111						c.(1045-1047)Gaa>Aaa		trichorhinophalangeal syndrome I							111.0	107.0	108.0					8																	116617112		1870	4095	5965	SO:0001583	missense	7227	2	120808	35	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	g.chr8:116617112C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1045G>A	chr8.hg19:g.116617112C>T	ENSP00000220888:p.Glu349Lys	0					TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K	p.E349K			0	0	0	1.973482	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)	3	1204	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	1	1	hg19	c.1045G>A		1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	0	TRPS1	116686287	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.044058	1	0.170000	NM_014112			76	73		371	364	1		1	1		0	0	77	0		1	9.475889e-01	0	2	0	24	0	76	371
EIF3H	8667	broad.mit.edu	37	8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000276682.4	-	7	1403	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338																																						ENST00000276682.4	1.000000	0.770000	1	9.000000e-01	0.990000	0.967756	0.990000	1.000000																										0				13						c.(637-639)Gaa>Aaa		eukaryotic translation initiation factor 3, subunit H							121.0	117.0	118.0					8																	117668207		2203	4300	6503	SO:0001583	missense	8667	0	0					g.chr8:117668207C>T	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.637G>A	chr8.hg19:g.117668207C>T	ENSP00000276682:p.Glu213Lys	0					EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K	p.E213K			0	0	0	1.973482				7	1403	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)			Missense_Mutation	SNP	ENST00000276682.4	1	1	hg19	c.637G>A		1	.	.	.	.	.	.	.	.	.	.	C	36	5.600966	0.96614	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.50548	0.75;0.74;0.76	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86097	2.795	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.53313	0.723;0.723	T	0.70226	-0.4930	10	0.54805	T	0.06	-24.4333	20.8598	0.99761	0.0:1.0:0.0:0.0	.	213;199	B3KS98;O15372	.;EIF3H_HUMAN	K	199;213;167;215	ENSP00000429931:E199K;ENSP00000276682:E213K;ENSP00000428669:E215K	ENSP00000276682:E213K	E	-	1	0	0	EIF3H	117737388	117737388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	1	0	1		2	2	2	0		0	0	112		112	110	1	2.060000	-12.309330	1	0.170000	NM_003756			39	38		386	381	1		1	1		0	0	112	0		1	1	0	186	0	1233	0	39	386
RAD21	5885	broad.mit.edu	37	8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000518055.1_Missense_Mutation_p.P54L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	509	Pro-rich.				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)				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)					GATATTTGGAGGTTCTTCTGG	0.383																																						ENST00000297338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1525-1527)cCt>cTt		RAD21 homolog (S. pombe)							132.0	131.0	132.0					8																	117862951		2203	4300	6503	SO:0001583	missense	5885	1	121410	27				g.chr8:117862951G>A	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.1526C>T	chr8.hg19:g.117862951G>A	ENSP00000297338:p.Pro509Leu	0					RAD21_ENST00000518055.1_Missense_Mutation_p.P54L|RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000517749.1_5'Flank	p.P509L	NM_006265.2	NP_006256.1	0	0	0	1.973482	O60216	RAD21_HUMAN		12	1813	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	1	1	hg19	c.1526C>T	CCDS6321.1	1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665099	0.67700	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77358	0.66;-1.09;-0.09	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.205404	0.50627	D	0.000105	T	0.70482	0.3229	L	0.36672	1.1	0.80722	D	1	B	0.27823	0.19	B	0.23018	0.043	T	0.66114	-0.6004	10	0.30078	T	0.28	-26.6076	19.1023	0.93279	0.0:0.0:1.0:0.0	.	509	O60216	RAD21_HUMAN	L	509;13;54	ENSP00000297338:P509L;ENSP00000428513:P13L;ENSP00000428003:P54L	ENSP00000297338:P509L	P	-	2	0	0	RAD21	117932132	117932132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.481000	0.83766	0.467000	0.42956	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.226633	1	0.170000	NM_006265			85	83		445	434	1		1	1		0	0	98	0		1	1	0	115	0	353	0	85	445
RAD21	5885	broad.mit.edu	37	8	117864872	117864872	+	Silent	SNP	A	A	G	rs201779352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	413					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)				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)					AATTCATCCAAATTATCTGCC	0.398													A|||	2	0.000399361	0.0	0.0	5008	,	,		15732	0.002		0.0	False		,,,				2504	0.0					ENST00000297338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1237-1239)Ttg>Ctg		RAD21 homolog (S. pombe)							112.0	110.0	111.0					8																	117864872		2203	4300	6503	SO:0001819	synonymous_variant	5885	19	121408	45				g.chr8:117864872A>G	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.1237T>C	chr8.hg19:g.117864872A>G		0					RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	p.L413L	NM_006265.2	NP_006256.1	0	0	0	1.973482	O60216	RAD21_HUMAN		10	1524	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	1	1	hg19	c.1237T>C	CCDS6321.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_006265			73	73		396	385	0		1	1		0	0	81	0		1	1	0	80	0	239	0	73	396
RAD21	5885	broad.mit.edu	37	8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				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)				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)					AGACAGCGTGTAAAGAGCtat	0.308																																						ENST00000297338.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1168-1170)Aca>Gca		RAD21 homolog (S. pombe)							58.0	57.0	57.0					8																	117864941		2203	4300	6503	SO:0001583	missense	5885	0	0					g.chr8:117864941T>C	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.1168A>G	chr8.hg19:g.117864941T>C	ENSP00000297338:p.Thr390Ala	0					RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	p.T390A	NM_006265.2	NP_006256.1	0	0	0	1.973482	O60216	RAD21_HUMAN		10	1455	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	1	1	hg19	c.1168A>G	CCDS6321.1	1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099247	0.56183	.	.	ENSG00000164754	ENST00000297338	T	0.65732	-0.17	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.56396	1.775	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.67795	-0.5578	10	0.08381	T	0.77	0.1095	15.669	0.77258	0.0:0.0:0.0:1.0	.	390	O60216	RAD21_HUMAN	A	390	ENSP00000297338:T390A	ENSP00000297338:T390A	T	-	1	0	0	RAD21	117934122	117934122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.952000	0.70282	2.092000	0.63282	0.460000	0.39030	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_006265			72	68		232	223	1		1	1		0	0	51	0		1	1	0	93	0	292	0	72	232
RAD21	5885	broad.mit.edu	37	8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	41					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)				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)					ATACTCTCCACGCTGCTCTCT	0.388																																						ENST00000297338.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999542	0.990000	1.000000																										0				32						c.(121-123)Gtg>Atg		RAD21 homolog (S. pombe)							82.0	74.0	76.0					8																	117878848		2203	4300	6503	SO:0001583	missense	5885	0	0					g.chr8:117878848C>T	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.121G>A	chr8.hg19:g.117878848C>T	ENSP00000297338:p.Val41Met	0					RAD21_ENST00000523547.1_5'UTR	p.V41M	NM_006265.2	NP_006256.1	0	0	0	1.973482	O60216	RAD21_HUMAN		2	408	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	1	1	hg19	c.121G>A	CCDS6321.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576225	0.86645	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.83	4.96	0.65561	5.83	4.96	0.65561	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81111	-0.1081	10	0.72032	D	0.01	-6.9429	14.7782	0.69746	0.0:0.9308:0.0:0.0692	.	41	O60216	RAD21_HUMAN	M	41	ENSP00000297338:V41M;ENSP00000429342:V41M;ENSP00000427923:V41M;ENSP00000430524:V41M;ENSP00000428158:V41M	ENSP00000297338:V41M	V	-	1	0	0	RAD21	117948029	117948029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_006265			40	40		277	275	1		1	1		0	0	46	0		1	1	0	45	0	200	0	40	277
SLC30A8	169026	broad.mit.edu	37	8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000456015.2	+	6	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	274					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)			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)			CTCCATCTTACTCATGGAAGG	0.428																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000456015.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(820-822)Ctc>Ttc		solute carrier family 30 (zinc transporter), member 8							122.0	118.0	119.0					8																	118175760		2203	4300	6503	SO:0001583	missense	169026	0	0					g.chr8:118175760C>T		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.820C>T	chr8.hg19:g.118175760C>T	ENSP00000415011:p.Leu274Phe	0					SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F	p.L274F	NM_173851.2	NP_776250.2	0	0	0	1.973482	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)	6	820	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	1	1	hg19	c.820C>T	CCDS6322.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016112	0.75161	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.95	4.06	0.47325	4.95	4.06	0.47325	.	0.000000	0.64402	D	0.000001	D	0.92378	0.7581	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93116	0.6521	10	0.87932	D	0	-15.5648	11.6831	0.51470	0.0:0.9106:0.0:0.0894	.	274	Q8IWU4	ZNT8_HUMAN	F	225;225;225;274	ENSP00000428545:L225F;ENSP00000407505:L225F;ENSP00000431069:L225F;ENSP00000415011:L274F	ENSP00000407505:L225F	L	+	1	0	0	SLC30A8	118244941	118244941	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.015000	0.40961	1.388000	0.46506	0.655000	0.94253	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_173851			66	66		268	258	0		1	0		0	0	50	0		1	9.999759e-01	0	0	0	66	0	66	268
EXT1	2131	broad.mit.edu	37	8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	701	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Multiple Exostoses Type 1	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	8q24.11-q24.13	2131	Mis, N, F, S	multiple exostoses type 1 gene				M	M		exostoses, osteosarcoma			0				38	GRCh37	CM010236	EXT1	M		c.(2101-2103)Cga>Tga		exostosin glycosyltransferase 1							72.0	68.0	69.0					8																	118812091		2203	4300	6503	SO:0001587	stop_gained	2131	0	0		Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr8:118812091G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2101C>T	chr8.hg19:g.118812091G>A	ENSP00000367446:p.Arg701*	0						p.R701*	NM_000127.2	NP_000118.2	0	0	0	1.973482	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)	11	2907	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	0	1	hg19	c.2101C>T	CCDS6324.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.435230	0.99560	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	5.02	0.67125	5.96	5.02	0.67125	.	0.056834	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0602	14.3793	0.66900	0.0:0.0:0.7492:0.2508	.	.	.	.	X	701	.	ENSP00000367446:R701X	R	-	1	2	2	EXT1	118881272	118881272	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.832000	0.97577	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000	NM_000127			52	50		233	230	1		1	1		0	0	51	0		1	1	0	42	0	149	0	52	233
EXT1	2131	broad.mit.edu	37	8	119122680	119122680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	202					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Multiple Exostoses Type 1	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	8q24.11-q24.13	2131	Mis, N, F, S	multiple exostoses type 1 gene				M	M		exostoses, osteosarcoma			0				38						c.(604-606)gaC>gaT		exostosin glycosyltransferase 1							63.0	74.0	70.0					8																	119122680		2202	4300	6502	SO:0001819	synonymous_variant	2131	0	0		Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr8:119122680G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.606C>T	chr8.hg19:g.119122680G>A		0						p.D202D	NM_000127.2	NP_000118.2	0	0	0	1.973482	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)	1	1412	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	1	1	hg19	c.606C>T	CCDS6324.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_000127			121	117		558	551	0		1	1		0	0	122	0		1	1	0	20	0	96	0	121	558
EXT1	2131	broad.mit.edu	37	8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	129					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Multiple Exostoses Type 1	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	8q24.11-q24.13	2131	Mis, N, F, S	multiple exostoses type 1 gene				M	M		exostoses, osteosarcoma			0				38						c.(385-387)Gaa>Aaa		exostosin glycosyltransferase 1							87.0	95.0	92.0					8																	119122901		2203	4300	6503	SO:0001583	missense	2131	1	121412	31	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	g.chr8:119122901C>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.385G>A	chr8.hg19:g.119122901C>T	ENSP00000367446:p.Glu129Lys	0						p.E129K	NM_000127.2	NP_000118.2	0	0	0	1.973482	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)	1	1191	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	1	1	hg19	c.385G>A	CCDS6324.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271343	0.59649	.	.	ENSG00000182197	ENST00000378204	D	0.97598	-4.45	5.47	4.54	0.55810	5.47	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.42245	1.32	0.58432	D	0.999999	P	0.40250	0.709	B	0.39840	0.311	D	0.93121	0.6525	10	0.17369	T	0.5	-16.4487	15.7067	0.77588	0.0:0.863:0.137:0.0	.	129	Q16394	EXT1_HUMAN	K	129	ENSP00000367446:E129K	ENSP00000367446:E129K	E	-	1	0	0	EXT1	119192082	119192082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.558000	0.86282	0.462000	0.41574	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.700229	1	0.170000	NM_000127			111	109		413	407	1		1	1		0	0	93	0		1	1	0	27	0	109	0	111	413
USP17L2	377630	broad.mit.edu	37	8	11994753	11994754	+	Missense_Mutation	DNP	GC	GC	AT	rs371735438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753_11994754GC>AT	ENST00000333796.3	-	1	1832_1833	c.1516_1517GC>AT	c.(1516-1518)GCt>ATt	p.A506I	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	506	Mediates interaction with SUDS3.				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)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCCA	0.545																																						ENST00000333796.3	1.000000|0.660000	0.990000|0.280000	1|5.600000e-01	9.900000e-01|3.500000e-01	0.990000|0.450000	0.999966|0.462947	0.990000|0.450000	1.000000|0.440000																										0				29						c.(1516-1518)gCt>gTt|c.(1516-1518)Gct>Act		ubiquitin specific peptidase 17-like family member 2																																				SO:0001583	missense	377630	0|3	0|111422	|39				g.chr8:11994753G>A|g.chr8:11994754C>T	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.1516_1517delinsAT	chr8.hg19:g.11994753_11994754delinsAT	ENSP00000333329:p.Ala506Ile	0					FAM66D_ENST00000434078.2_RNA	p.A506V|p.A506T	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	0	0	0	1.973482	Q6R6M4	U17L2_HUMAN		1	1833|1832	-				Missense_Mutation	SNP	ENST00000333796.3	1	1	hg19	c.1517C>T|c.1516G>A	CCDS43713.1	1|0																									0.418	0.418|-0.836	0.16429|0.10770																																												0			12032162|12032163														1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.545	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	1|0	0	1		2	2	2	0		0	0	104		105|104	102|101	1	2.060000	-20.000000|-3.680389	1	0.170000	NM_201402			66|20	66|20		455|500	439|485	1|0		1			0	0	105|104	0		1|9.999939e-01	0	0	0	0	0	0	20	455
USP17L2	377630	broad.mit.edu	37	8	11995139	11995139	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	ENST00000333796.3	-	1	1447	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	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	377					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)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTCTTTCCCATTCACTCTTCT	0.517																																						ENST00000333796.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999688	0.990000	1.000000																										0				29						c.(1129-1131)gaA>gaT		ubiquitin specific peptidase 17-like family member 2							20.0	21.0	21.0					8																	11995139		1310	3201	4511	SO:0001583	missense	377630	0	0					g.chr8:11995139T>A	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.1131A>T	chr8.hg19:g.11995139T>A	ENSP00000333329:p.Glu377Asp	0					FAM66D_ENST00000434078.2_RNA	p.E377D	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	0	0	0	1.973482	Q6R6M4	U17L2_HUMAN		1	1447	-				Missense_Mutation	SNP	ENST00000333796.3	0	1	hg19	c.1131A>T	CCDS43713.1	1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.898574	0.00517	.	.	ENSG00000223443	ENST00000333796	T	0.41758	0.99	0.771	-0.576	0.11731	0.771	-0.576	0.11731	Hyaluronan/mRNA-binding protein (1);	1.202600	0.06564	N	0.747271	T	0.16557	0.0398	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.23226	-1.0194	10	0.02654	T	1	.	4.0396	0.09745	0.0:0.2652:0.0:0.7348	.	377	Q6R6M4	U17L2_HUMAN	D	377	ENSP00000333329:E377D	ENSP00000333329:E377D	E	-	3	2	2	USP17L2	12032548	12032548	0.522000	0.26266	0.016000	0.15963	0.079000	0.17450	1.039000	0.30266	-0.150000	0.11195	0.240000	0.17902	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	1		2	2	2	0		0	0	68		68	104	1	2.060000	-20.000000	1	0.170000	NM_201402			45	20		314	161	0		1			0	0	68	0		1	0	0	0	0	0	0	45	314
USP17L2	377630	broad.mit.edu	37	8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	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	256	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)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512																																						ENST00000333796.3	1.000000	0.790000	1	9.200000e-01	0.990000	0.974053	0.990000	1.000000																										0				29						c.(766-768)cTt>cCt		ubiquitin specific peptidase 17-like family member 2							16.0	20.0	19.0					8																	11995503		1016	2394	3410	SO:0001583	missense	377630	0	0					g.chr8:11995503A>G	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.767T>C	chr8.hg19:g.11995503A>G	ENSP00000333329:p.Leu256Pro	0					FAM66D_ENST00000434078.2_RNA	p.L256P	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	0	0	0	1.973482	Q6R6M4	U17L2_HUMAN		1	1083	-				Missense_Mutation	SNP	ENST00000333796.3	1	1	hg19	c.767T>C	CCDS43713.1	1	.	.	.	.	.	.	.	.	.	.	A	0.881	-0.728608	0.03135	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.392720	0.01228	N	0.008280	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	0.999999	B	0.14438	0.01	B	0.20184	0.028	T	0.37979	-0.9682	10	0.49607	T	0.09	.	2.5944	0.04850	0.2721:0.3019:0.426:0.0	.	256	Q6R6M4	U17L2_HUMAN	P	256	ENSP00000333329:L256P	ENSP00000333329:L256P	L	-	2	0	0	USP17L2	12032912	12032912	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-1.429000	0.01987	-1.661000	0.00750	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	1		2	2	2	0		0	0	119		119	146	1	2.060000	-20.000000	1	0.170000	NM_201402			43	15		419	101	0		1			0	0	119	0		9.996352e-01	0	0	0	0	0	0	43	419
USP17L2	377630	broad.mit.edu	37	8	11995994	11995994	+	Silent	SNP	G	G	A	rs369199590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	ENST00000333796.3	-	1	592	c.276C>T	c.(274-276)aaC>aaT	p.N92N	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	92	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)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGGAAGCGTTCTCGTAGC	0.572																																						ENST00000333796.3	0.780000	0.420000	6.900000e-01	4.900000e-01	0.580000	0.598318	0.580000	0.580000																										0				29						c.(274-276)aaC>aaT		ubiquitin specific peptidase 17-like family member 2		G		0,2896		0,0,1448	35.0	43.0	40.0		276	-0.3	0.0	8		40	2,5828		1,0,2914	no	coding-synonymous	USP17L2	NM_201402.2		1,0,4362	AA,AG,GG		0.0343,0.0,0.0229		92/531	11995994	2,8724	1448	2915	4363	SO:0001819	synonymous_variant	377630	19	110696	39				g.chr8:11995994G>A	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.276C>T	chr8.hg19:g.11995994G>A		0					FAM66D_ENST00000434078.2_RNA	p.N92N	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	0	0	0	1.973482	Q6R6M4	U17L2_HUMAN		1	592	-				Silent	SNP	ENST00000333796.3	0	1	hg19	c.276C>T	CCDS43713.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	1		2	2	2	0		0	0	151		151	170	1	2.060000	-6.230448	1	0.170000	NM_201402			37	14		694	299	0		1			0	0	151	0		9.999873e-01	0	0	0	0	0	0	37	694
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463																																						ENST00000297350.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(886-888)Cgt>Tgt		tumor necrosis factor receptor superfamily, member 11b		G	CYS/ARG	0,4406		0,0,2203	127.0	102.0	110.0		886	3.9	0.0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11B	NM_002546.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/402	119936933	1,13005	2203	4300	6503	SO:0001583	missense	4982	2	121412	37				g.chr8:119936933G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.886C>T	chr8.hg19:g.119936933G>A	ENSP00000297350:p.Arg296Cys	0						p.R296C	NM_002546.3	NP_002537.3	0	0	0	1.973482	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)	5	1264	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	1	1	hg19	c.886C>T	CCDS6326.1	1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831937	0.32421	0.0	1.16E-4	ENSG00000164761	ENST00000297350	D	0.87179	-2.22	5.74	3.91	0.45181	5.74	3.91	0.45181	Death (1);	1.391200	0.03735	N	0.254055	D	0.85444	0.5698	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.47206	0.541	T	0.70691	-0.4802	9	.	.	.	-1.5943	4.7775	0.13187	0.0732:0.1069:0.4216:0.3984	.	296	O00300	TR11B_HUMAN	C	296	ENSP00000297350:R296C	.	R	-	1	0	0	TNFRSF11B	120006114	120006114	0.009000	0.17119	0.003000	0.11579	0.624000	0.37722	1.152000	0.31663	0.840000	0.34995	0.563000	0.77884	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000				72	68		250	243	1		1	0		0	0	61	0		1	9.319727e-01	0	0	0	18	0	72	250
MAL2	114569	broad.mit.edu	37	8	120233931	120233931	+	Silent	SNP	G	G	A	rs377088720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	ENST00000276681.6	+	3	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	79	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTCTTTTCGCTCCTCTTTC	0.458																																						ENST00000276681.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(235-237)tcG>tcA		mal, T-cell differentiation protein 2 (gene/pseudogene)		G		0,3968		0,0,1984	186.0	185.0	186.0		238	1.3	0.7	8		186	2,8332		0,2,4165	no	coding-synonymous	MAL2	NM_052886.2		0,2,6149	AA,AG,GG		0.024,0.0,0.0163		79/177	120233931	2,12300	1984	4167	6151	SO:0001819	synonymous_variant	114569	5	120934	43				g.chr8:120233931G>A	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.237G>A	chr8.hg19:g.120233931G>A		0					RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	p.S79S	NM_052886.2	NP_443118.1	0	0	0	1.973482	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)	3	339	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	0	1	hg19	c.237G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-7.142564	1	0.170000	NM_052886			128	125		721	707	0		1	1		0	0	117	0		1	1	0	127	0	167	0	128	721
NOV	4856	broad.mit.edu	37	8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T	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)			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)			AGTGGAGAGAAATTTCAGCCA	0.512																																						ENST00000259526.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994568	0.990000	1.000000																										0				21						c.(364-366)aAa>aCa		nephroblastoma overexpressed							98.0	101.0	100.0					8																	120430352		2203	4300	6503	SO:0001583	missense	4856	0	0					g.chr8:120430352A>C	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.365A>C	chr8.hg19:g.120430352A>C	ENSP00000259526:p.Lys122Thr	0					RP11-775B15.2_ENST00000519786.1_RNA	p.K122T	NM_002514.3	NP_002505.1	0	0	0	1.973482	Q9UIW2	PLXA1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)	3	592	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)			Missense_Mutation	SNP	ENST00000259526.3	1	1	hg19	c.365A>C	CCDS6328.1	1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123628	0.37436	.	.	ENSG00000136999	ENST00000259526	T	0.70869	-0.52	5.51	3.56	0.40772	5.51	3.56	0.40772	von Willebrand factor, type C (3);	0.174753	0.53938	N	0.000059	T	0.32194	0.0821	N	0.00329	-1.635	0.35092	D	0.764375	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.19590	T	0.45	-5.5229	9.4965	0.38991	0.2304:0.66:0.1096:0.0	.	122	P48745	NOV_HUMAN	T	122	ENSP00000259526:K122T	ENSP00000259526:K122T	K	+	2	0	0	NOV	120499533	120499533	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.747000	0.47475	0.740000	0.32651	0.459000	0.35465	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	1	0	0		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_002514			34	33		275	272	1		1	0		0	0	62	0		1	9.267981e-01	0	0	0	38	0	34	275
NOV	4856	broad.mit.edu	37	8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	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)			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)			GTCACTCAAAGCCATCCACCT	0.488																																						ENST00000259526.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(817-819)Gcc>Acc		nephroblastoma overexpressed							76.0	77.0	77.0					8																	120435115		2203	4300	6503	SO:0001583	missense	4856	0	0					g.chr8:120435115G>A	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.817G>A	chr8.hg19:g.120435115G>A	ENSP00000259526:p.Ala273Thr	0					RP11-775B15.2_ENST00000519786.1_RNA	p.A273T	NM_002514.3	NP_002505.1	0	0	0	1.973482	Q9UIW2	PLXA1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)	5	1044	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)			Missense_Mutation	SNP	ENST00000259526.3	1	1	hg19	c.817G>A	CCDS6328.1	1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322686	0.60634	.	.	ENSG00000136999	ENST00000259526	D	0.89343	-2.5	5.91	4.06	0.47325	5.91	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.159685	0.56097	D	0.000033	D	0.91297	0.7256	M	0.78637	2.42	0.38106	D	0.937413	P	0.46859	0.885	P	0.51324	0.666	D	0.91883	0.5517	10	0.87932	D	0	-21.4507	10.9553	0.47354	0.0:0.1261:0.6124:0.2615	.	273	P48745	NOV_HUMAN	T	273	ENSP00000259526:A273T	ENSP00000259526:A273T	A	+	1	0	0	NOV	120504296	120504296	0.815000	0.29118	0.982000	0.44146	0.382000	0.30200	0.780000	0.26760	0.770000	0.33336	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	1	0	1		2	2	2	0		0	0	107		107	103	1	2.060000	-20.000000	1	0.170000	NM_002514			95	93		490	472	1		1	0		0	0	107	0		1	9.985460e-01	0	0	0	52	0	95	490
ENPP2	5168	broad.mit.edu	37	8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000075322.6	-	25	2482	c.2424C>A	c.(2422-2424)agC>agA	p.S808R	ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R|ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	808					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)			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)			CGTCCTCTGAGCTCTGCAATG	0.443																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000075322.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(2422-2424)agC>agA		ectonucleotide pyrophosphatase/phosphodiesterase 2							139.0	127.0	131.0					8																	120569929		2203	4300	6503	SO:0001583	missense	5168	14	121280	43				g.chr8:120569929G>T	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.2424C>A	chr8.hg19:g.120569929G>T	ENSP00000075322:p.Ser808Arg	0					ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R	p.S808R	NM_001040092.2	NP_001035181.1	0	0	0	1.973482	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	25	2482	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	1	1	hg19	c.2424C>A	CCDS34936.1	1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909460	0.33721	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.72;-0.71;-0.93;-0.71;-0.71	5.91	3.15	0.36227	5.91	3.15	0.36227	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.077468	0.52532	D	0.000070	T	0.80341	0.4605	M	0.68952	2.095	0.48696	D	0.99969	P;P;D;P;D	0.58970	0.806;0.848;0.983;0.71;0.984	P;P;P;B;P	0.61132	0.776;0.583;0.729;0.35;0.884	T	0.76906	-0.2786	10	0.40728	T	0.16	.	9.5939	0.39563	0.2684:0.0:0.7316:0.0	.	346;833;808;860;443	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	860;829;443;833;808	ENSP00000259486:S860R;ENSP00000403315:S829R;ENSP00000429476:S443R;ENSP00000428291:S833R;ENSP00000075322:S808R	ENSP00000075322:S808R	S	-	3	2	2	ENPP2	120639110	120639110	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	1.137000	0.31479	0.402000	0.25451	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				84	82		417	411	1		1	0		0	0	82	0		1	1	0	1	0	318	0	84	417
ENPP2	5168	broad.mit.edu	37	8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000075322.6	-	24	2447	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S|ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	797					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)			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)			GGCCGGTGAGGCAGGATGAAG	0.483																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000075322.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				69						c.(2389-2391)Cct>Tct		ectonucleotide pyrophosphatase/phosphodiesterase 2							127.0	109.0	115.0					8																	120575129		2203	4300	6503	SO:0001583	missense	5168	0	0					g.chr8:120575129G>A	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.2389C>T	chr8.hg19:g.120575129G>A	ENSP00000075322:p.Pro797Ser	0					ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S	p.P797S	NM_001040092.2	NP_001035181.1	0	0	0	1.973482	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	24	2447	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	1	1	hg19	c.2389C>T	CCDS34936.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592355	0.86953	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.8	4.93	0.64822	5.8	4.93	0.64822	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0	D;D;D;D;D	0.78314	0.991;0.965;0.982;0.967;0.99	T	0.73852	-0.3852	10	0.87932	D	0	.	14.6138	0.68534	0.0694:0.0:0.9306:0.0	.	335;822;797;849;432	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	849;818;432;822;797	ENSP00000259486:P849S;ENSP00000403315:P818S;ENSP00000429476:P432S;ENSP00000428291:P822S;ENSP00000075322:P797S	ENSP00000075322:P797S	P	-	1	0	0	ENPP2	120644310	120644310	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.750000	0.98875	1.451000	0.47736	0.650000	0.86243	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.999980	1	0.170000				47	46		236	233	1		1	0		0	0	60	0		1	1	0	0	0	357	0	47	236
ENPP2	5168	broad.mit.edu	37	8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000075322.6	-	21	2018	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W|ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					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)			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)			ACATCAGGCCGGACGCAACTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16418	0.0		0.0	False		,,,				2504	0.001				Melanoma(20;305 879 2501 4818 31020)	ENST00000075322.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1960-1962)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	120.0	109.0	112.0		1960,2035,2116	4.5	1.0	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	654/864,679/889,706/916	120581568	1,13005	2203	4300	6503	SO:0001583	missense	5168	19	121412	44				g.chr8:120581568G>A	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.1960C>T	chr8.hg19:g.120581568G>A	ENSP00000075322:p.Arg654Trp	0					ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W	p.R654W	NM_001040092.2	NP_001035181.1	0	0	0	1.973482	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	21	2018	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	1	1	hg19	c.1960C>T	CCDS34936.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560122	0.65538	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.36	4.47	0.54385	5.36	4.47	0.54385	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;1.0	D	0.85082	0.0946	10	0.87932	D	0	.	13.9544	0.64137	0.0:0.0:0.7101:0.2899	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	W	706;675;289;679;654	ENSP00000259486:R706W;ENSP00000403315:R675W;ENSP00000429476:R289W;ENSP00000428291:R679W;ENSP00000075322:R654W	ENSP00000075322:R654W	R	-	1	2	2	ENPP2	120650749	120650749	0.962000	0.33011	0.986000	0.45419	0.653000	0.38743	1.304000	0.33482	1.221000	0.43506	0.650000	0.86243	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.938215	1	0.170000				64	65		326	325	0		1	0		0	0	76	0		1	1	0	1	0	270	0	64	326
TAF2	6873	broad.mit.edu	37	8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	678					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)			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)			GAGTGCAAGCCGAGATGCTGG	0.418																																						ENST00000378164.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2032-2034)cGg>cAg		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							116.0	117.0	117.0					8																	120795700		2203	4300	6503	SO:0001583	missense	6873	1	121412	32				g.chr8:120795700C>T	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.2033G>A	chr8.hg19:g.120795700C>T	ENSP00000367406:p.Arg678Gln	0						p.R678Q	NM_003184.3	NP_003175	0	0	0	1.973482	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	16	2331	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	1	1	hg19	c.2033G>A	CCDS34937.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.423498	0.96111	.	.	ENSG00000064313	ENST00000378164	T	0.50277	0.75	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.50659	0.647	T	0.45498	-0.9257	10	0.40728	T	0.16	-38.7402	20.6593	0.99626	0.0:1.0:0.0:0.0	.	678	Q6P1X5	TAF2_HUMAN	Q	678	ENSP00000367406:R678Q	ENSP00000367406:R678Q	R	-	2	0	0	TAF2	120864881	120864881	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.789000	0.85783	2.885000	0.99019	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	1	0	1		2	2	2	0		0	0	106		106	104	1	2.060000	-3.017670	1	0.170000	NM_003184			104	102		438	431	1		1	1		0	0	106	0		1	9.999394e-01	0	14	0	47	0	104	438
TAF2	6873	broad.mit.edu	37	8	120803660	120803660	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	439					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)			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)			AGGACAGTGTATGTGGATGCT	0.323																																						ENST00000378164.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1315-1317)caT>caC		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							100.0	95.0	97.0					8																	120803660		2203	4299	6502	SO:0001819	synonymous_variant	6873	0	0					g.chr8:120803660A>G	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.1317T>C	chr8.hg19:g.120803660A>G		0						p.H439H	NM_003184.3	NP_003175	0	0	0	1.973482	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	11	1615	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	1	1	hg19	c.1317T>C	CCDS34937.1	1	.	.	.	.	.	.	.	.	.	.	A	6.538	0.467601	0.12402	.	.	ENSG00000064313	ENST00000523904	.	.	.	4.79	-1.66	0.08265	4.79	-1.66	0.08265	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55642	-0.8109	4	.	.	.	-28.6868	11.6465	0.51263	0.4583:0.0:0.5417:0.0	.	.	.	.	T	132	.	.	I	-	2	0	0	TAF2	120872841	120872841	1.000000	0.71417	0.878000	0.34440	0.747000	0.42532	1.180000	0.32005	-0.229000	0.09854	-0.456000	0.05471	ATA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_003184			44	43		191	187	0		1	1		0	0	46	0		1	9.998492e-01	0	16	0	45	0	44	191
DSCC1	79075	broad.mit.edu	37	8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	220					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358																																						ENST00000313655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(658-660)Tct>Cct		DNA replication and sister chromatid cohesion 1							154.0	165.0	161.0					8																	120855907		2203	4300	6503	SO:0001583	missense	79075	0	0					g.chr8:120855907A>G		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.658T>C	chr8.hg19:g.120855907A>G	ENSP00000322180:p.Ser220Pro	0						p.S220P	NM_024094.2	NP_076999.2	0	0	0	1.973482	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	5	872	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		Q969N5	Missense_Mutation	SNP	ENST00000313655.4	1	1	hg19	c.658T>C	CCDS6330.1	1	.	.	.	.	.	.	.	.	.	.	A	6.220	0.408665	0.11812	.	.	ENSG00000136982	ENST00000313655	T	0.47177	0.85	5.29	1.58	0.23477	5.29	1.58	0.23477	.	0.149499	0.64402	D	0.000007	T	0.28499	0.0705	L	0.29908	0.895	0.49687	D	0.999818	B	0.17465	0.022	B	0.20955	0.032	T	0.04440	-1.0951	10	0.21540	T	0.41	-8.5604	4.4856	0.11788	0.5833:0.1665:0.2502:0.0	.	220	Q9BVC3	DCC1_HUMAN	P	220	ENSP00000322180:S220P	ENSP00000322180:S220P	S	-	1	0	0	DSCC1	120925088	120925088	0.999000	0.42202	0.993000	0.49108	0.387000	0.30353	0.837000	0.27558	0.405000	0.25532	-0.321000	0.08615	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	1	0	0		2	2	2	0		0	0	205		205	205	1	2.060000	-20.000000	1	0.170000	NM_024094			152	150		769	758	1		1	1		0	0	205	0		1	7.350681e-01	0	5	0	10	0	152	769
DSCC1	79075	broad.mit.edu	37	8	120855987	120855987	+	Splice_Site	SNP	C	C	A	rs376874066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	193					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363																																						ENST00000313655.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(577-579)gGt>gTt		DNA replication and sister chromatid cohesion 1							85.0	96.0	92.0					8																	120855987		2203	4300	6503	SO:0001630	splice_region_variant	79075	0	0					g.chr8:120855987C>A		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.578-1G>T	chr8.hg19:g.120855987C>A		0						p.G193V	NM_024094.2	NP_076999.2	0	0	0	1.973482	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	5	792	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		Q969N5	Splice_Site	SNP	ENST00000313655.4	1	0	hg19	c.578G>T	CCDS6330.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312999	0.81358	.	.	ENSG00000136982	ENST00000313655	T	0.67865	-0.29	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87853	0.2659	10	0.87932	D	0	.	19.3011	0.94144	0.0:1.0:0.0:0.0	.	193	Q9BVC3	DCC1_HUMAN	V	193	ENSP00000322180:G193V	ENSP00000322180:G193V	G	-	2	0	0	DSCC1	120925168	120925168	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.560000	0.82277	2.642000	0.89623	0.650000	0.86243	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	1	0	0		2	2	2	0		0	0	116		116	116	1	2.060000	-20.000000	1	0.170000	NM_024094	Missense_Mutation		98	95		493	476	0		1	0		0	0	116	0		1	6.615900e-01	0	0	0	13	0	98	493
COL14A1	7373	broad.mit.edu	37	8	121262977	121262977	+	Silent	SNP	C	C	T	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000247781.3_Silent_p.S813S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 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)			CAGGCTTCAGCGACGCCCTGA	0.478																																						ENST00000297848.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(2722-2724)agC>agT		collagen, type XIV, alpha 1		C		0,4406		0,0,2203	81.0	72.0	75.0		2724	-1.8	0.9	8	dbSNP_132	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL14A1	NM_021110.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		908/1797	121262977	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7373	3	121412	36				g.chr8:121262977C>T		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.2724C>T	chr8.hg19:g.121262977C>T		0					COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000432943.2_3'UTR	p.S908S	NM_021110.1	NP_066933.1	0	0	0	1.973482			OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)	22	2994	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)			Silent	SNP	ENST00000297848.3	1	1	hg19	c.2724C>T	CCDS34938.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.239361	1	0.170000	NM_021110			45	43		197	193	1		1	0		0	0	46	0		1	1	0	0	0	151	0	45	197
MRPL13	28998	broad.mit.edu	37	8	121426282	121426282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	155					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTCATCTAGACGTTTAGGT	0.328																																						ENST00000306185.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(463-465)Cta>Tta		mitochondrial ribosomal protein L13							159.0	151.0	154.0					8																	121426282		2203	4300	6503	SO:0001819	synonymous_variant	28998	0	0					g.chr8:121426282G>A	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.463C>T	chr8.hg19:g.121426282G>A		0						p.L155L	NM_014078.5	NP_054797.2	0	0	0	1.973482	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)	6	754	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		B2R4R8|Q9UI04	Silent	SNP	ENST00000306185.3	1	1	hg19	c.463C>T	CCDS6332.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_014078			75	74		306	303	1		1	1		0	0	85	0		1	1	0	79	0	178	0	75	306
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483																																						ENST00000395601.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R195L(1)|p.R195P(1)	lung(2)	24						c.(583-585)cGa>cAa		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							75.0	79.0	78.0					8																	121706136		2203	4300	6503	SO:0001583	missense	6641	1	121412	37				g.chr8:121706136C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.584G>A	chr8.hg19:g.121706136C>T	ENSP00000378965:p.Arg195Gln	0					SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	p.R195Q	NM_021021.3	NP_066301.1	0	0	0	1.973482	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)	3	998	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	1	1	hg19	c.584G>A	CCDS6334.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.262029	0.95368	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58652	0.32;0.32	5.44	5.44	0.79542	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.85130	0.581;0.997	T	0.71230	-0.4654	10	0.49607	T	0.09	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	195;195	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	195	ENSP00000378965:R195Q;ENSP00000431124:R195Q	ENSP00000378965:R195Q	R	-	2	0	0	SNTB1	121775317	121775317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.724621	1	0.170000	NM_021021			71	71		323	315	1		1	1		0	0	63	0		1	9.999878e-01	0	15	0	62	0	71	323
HAS2	3037	broad.mit.edu	37	8	122626390	122626390	+	Missense_Mutation	SNP	G	G	A	rs201471220		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626390G>A	ENST00000303924.4	-	4	2155	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	540					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)		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)			CCCTTCTTCCGCCTGCCACAC	0.433																																						ENST00000303924.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									HAS2/PLAG1(10)	0				38						c.(1618-1620)Cgg>Tgg		hyaluronan synthase 2																																				SO:0001583	missense	3037	73	121400	49				g.chr8:122626390G>A	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.1618C>T	chr8.hg19:g.122626390G>A	ENSP00000306991:p.Arg540Trp	0						p.R540W	NM_005328.2	NP_005319.1	0	0	0	1.973482	Q92819	HYAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)	4	2155	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	1	0	hg19	c.1618C>T	CCDS6335.1	1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989827	0.54041	.	.	ENSG00000170961	ENST00000303924	T	0.51325	0.71	6.17	3.35	0.38373	6.17	3.35	0.38373	.	0.045429	0.85682	N	0.000000	T	0.61776	0.2374	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.62091	-0.6927	10	0.87932	D	0	-18.9349	10.3443	0.43897	0.0625:0.0:0.6839:0.2536	.	540	Q92819	HAS2_HUMAN	W	540	ENSP00000306991:R540W	ENSP00000306991:R540W	R	-	1	2	2	HAS2	122695571	122695571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.374000	0.52402	0.435000	0.26365	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	1	0	1		2	2	2	0		0	0	137		137	133	1	2.060000	-0.912427	0	0.170000	NM_005328			124	119		561	549	1		1	1		0	0	137	0		1	9.234088e-01	0	8	0	11	0	124	561
HAS2	3037	broad.mit.edu	37	8	122626577	122626577	+	Silent	SNP	T	T	C	rs530553094		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	477					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)		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)			CTGGAATGAGTCCTATGAAAT	0.408																																						ENST00000303924.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994698	0.990000	1.000000																									HAS2/PLAG1(10)	0				38						c.(1429-1431)ggA>ggG		hyaluronan synthase 2							116.0	115.0	115.0					8																	122626577		2203	4300	6503	SO:0001819	synonymous_variant	3037	0	0					g.chr8:122626577T>C	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.1431A>G	chr8.hg19:g.122626577T>C		0						p.G477G	NM_005328.2	NP_005319.1	0	0	0	1.973482	Q92819	HYAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)	4	1968	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		Q32MM3	Silent	SNP	ENST00000303924.4	1	1	hg19	c.1431A>G	CCDS6335.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	0	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-20.000000	1	0.170000	NM_005328			73	73		660	650	1		1	0		0	0	133	0		1	6.834112e-01	0	1	0	22	0	73	660
HAS2	3037	broad.mit.edu	37	8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	180					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)		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)			GATGCAGATACTTTTGTTGGA	0.458																																						ENST00000303924.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									HAS2/PLAG1(10)	0				38						c.(538-540)aGt>aTt		hyaluronan synthase 2							296.0	262.0	274.0					8																	122641042		2203	4300	6503	SO:0001583	missense	3037	0	0					g.chr8:122641042C>A	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.539G>T	chr8.hg19:g.122641042C>A	ENSP00000306991:p.Ser180Ile	0						p.S180I	NM_005328.2	NP_005319.1	0	0	0	1.973482	Q92819	HYAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)	2	1076	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	1	1	hg19	c.539G>T	CCDS6335.1	1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670841	0.29693	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.44083	0.93	5.87	5.0	0.66597	5.87	5.0	0.66597	.	0.113441	0.85682	D	0.000000	T	0.27866	0.0686	N	0.22421	0.69	0.42532	D	0.993049	B	0.19583	0.037	B	0.17098	0.017	T	0.08722	-1.0708	10	0.21014	T	0.42	-12.8627	11.184	0.48644	0.0:0.8605:0.0:0.1395	.	180	Q92819	HAS2_HUMAN	I	180	ENSP00000306991:S180I	ENSP00000306991:S180I	S	-	2	0	0	HAS2	122710223	122710223	1.000000	0.71417	0.944000	0.38274	0.883000	0.51084	3.928000	0.56506	1.631000	0.50456	0.655000	0.94253	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	0	0	1		2	2	2	0		0	0	219		219	218	1	2.060000	-20.000000	1	0.170000	NM_005328			253	251		1115	1097	1		1	1		0	0	219	0		1	9.200765e-01	0	5	0	16	0	253	1115
ZHX2	22882	broad.mit.edu	37	8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	7					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999573	0.990000	1.000000																										0				45						c.(19-21)tCt>tTt		zinc fingers and homeoboxes 2							44.0	38.0	40.0					8																	123963770		2203	4300	6503	SO:0001583	missense	22882	0	0					g.chr8:123963770C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.20C>T	chr8.hg19:g.123963770C>T	ENSP00000314709:p.Ser7Phe	0						p.S7F	NM_014943.3	NP_055758.1	0	0	0	1.973482	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	3	855	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)			Missense_Mutation	SNP	ENST00000314393.4	1	1	hg19	c.20C>T	CCDS6336.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.297762	0.95574	.	.	ENSG00000178764	ENST00000314393	T	0.33654	1.4	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.056836	0.64402	D	0.000001	T	0.65760	0.2722	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	10	0.87932	D	0	-11.8845	20.1829	0.98210	0.0:1.0:0.0:0.0	.	7	Q9Y6X8	ZHX2_HUMAN	F	7	ENSP00000314709:S7F	ENSP00000314709:S7F	S	+	2	0	0	ZHX2	124032951	124032951	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.247000	0.78257	2.767000	0.95098	0.561000	0.74099	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	0	0	0		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_014943			18	18		85	84	1		1	1		0	0	27	0		9.999894e-01	9.939741e-01	0	3	0	40	0	18	85
ZHX2	22882	broad.mit.edu	37	8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A	rs546766772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17580	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				45						c.(1330-1332)cGc>cAc		zinc fingers and homeoboxes 2							96.0	113.0	107.0					8																	123965081		2203	4300	6503	SO:0001583	missense	22882	2	121412	32				g.chr8:123965081G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1331G>A	chr8.hg19:g.123965081G>A	ENSP00000314709:p.Arg444His	0						p.R444H	NM_014943.3	NP_055758.1	0	0	0	1.973482	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	3	2166	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)			Missense_Mutation	SNP	ENST00000314393.4	1	1	hg19	c.1331G>A	CCDS6336.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456528	0.63401	.	.	ENSG00000178764	ENST00000314393	D	0.91792	-2.91	5.85	5.85	0.93711	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.227219	0.45606	D	0.000350	D	0.93858	0.8035	L	0.40543	1.245	0.52099	D	0.999942	D	0.89917	1.0	D	0.73380	0.98	D	0.90635	0.4570	10	0.16896	T	0.51	-19.237	20.1559	0.98114	0.0:0.0:1.0:0.0	.	444	Q9Y6X8	ZHX2_HUMAN	H	444	ENSP00000314709:R444H	ENSP00000314709:R444H	R	+	2	0	0	ZHX2	124034262	124034262	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.241000	0.78201	2.779000	0.95612	0.491000	0.48974	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.330745	1	0.170000	NM_014943			41	41		189	185	1		1	1		0	0	64	0		1	9.999396e-01	0	6	0	65	0	41	189
ZHX2	22882	broad.mit.edu	37	8	123965964	123965964	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	738					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2212-2214)tgC>tgT		zinc fingers and homeoboxes 2							92.0	98.0	96.0					8																	123965964		2203	4300	6503	SO:0001819	synonymous_variant	22882	1	121412	31				g.chr8:123965964C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2214C>T	chr8.hg19:g.123965964C>T		0						p.C738C	NM_014943.3	NP_055758.1	0	0	0	1.973482	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	3	3049	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)			Silent	SNP	ENST00000314393.4	1	1	hg19	c.2214C>T	CCDS6336.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	1	0	1		2	2	2	0		0	0	128		128	126	1	2.060000	-20.000000	1	0.170000	NM_014943			106	106		488	480	1		1	0		0	0	128	0		1	9.999733e-01	0	1	0	70	0	106	488
DERL1	79139	broad.mit.edu	37	8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N|DERL1_ENST00000405944.3_Missense_Mutation_p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	10					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667																																						ENST00000259512.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				8						c.(28-30)aGc>aAc		derlin 1							93.0	64.0	74.0					8																	124054334		2203	4300	6503	SO:0001583	missense	79139	0	0					g.chr8:124054334C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.29G>A	chr8.hg19:g.124054334C>T	ENSP00000259512:p.Ser10Asn	0					DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N|RNY4P5_ENST00000362808.1_RNA	p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	0	0	0	1.973482	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	1	329	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	1	1	hg19	c.29G>A	CCDS6337.1	1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439631	0.43326	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.34072	2.83;1.63;1.38	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.114972	0.85682	D	0.000000	T	0.30135	0.0755	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.15052	0.002;0.012;0.008	T	0.04900	-1.0919	10	0.22706	T	0.39	.	20.039	0.97573	0.0:1.0:0.0:0.0	.	10;10;10	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	N	10	ENSP00000259512:S10N;ENSP00000384289:S10N;ENSP00000389965:S10N	ENSP00000259512:S10N	S	-	2	0	0	DERL1	124123515	124123515	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.261000	0.65496	2.743000	0.94032	0.453000	0.30009	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_024295			32	32		129	129	1		1	1		0	0	17	0		1	1	0	46	0	162	0	32	129
FAM83A	84985	broad.mit.edu	37	8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.									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)			AAGTGTGTCCGCGTCTTCAGG	0.731																																						ENST00000518448.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				17						c.(1051-1053)Gcg>Acg		family with sequence similarity 83, member A							8.0	10.0	10.0					8																	124219674		2128	4194	6322	SO:0001583	missense	84985	1	119638	28				g.chr8:124219674G>A	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.1051G>A	chr8.hg19:g.124219674G>A	ENSP00000428876:p.Ala351Thr	0					FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron	p.A351T			0	0	0	1.973482	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	5	3065	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	1	1	hg19	c.1051G>A	CCDS6340.1	1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497489	0.04291	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.07908	3.15;3.15	4.16	-5.41	0.02648	4.16	-5.41	0.02648	.	2.848170	0.01218	N	0.008039	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37596	-0.9699	10	0.12430	T	0.62	0.1336	10.3161	0.43738	0.7465:0.0:0.1438:0.1097	.	351	Q86UY5	FA83A_HUMAN	T	351	ENSP00000428876:A351T;ENSP00000323034:A351T	ENSP00000323034:A351T	A	+	1	0	0	FAM83A	124288855	124288855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-1.745000	0.01337	-0.436000	0.05848	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_032899			32	32		139	137	0		1			0	0	20	0		1	0	0	0	0	0	0	32	139
KLHL38	340359	broad.mit.edu	37	8	124664939	124664939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCCTTTCAGCTGCACTTTGG	0.592																																						ENST00000325995.7	0.640000	0.200000	5.200000e-01	2.900000e-01	0.390000	0.411066	0.390000	0.380000																										0				38						c.(226-228)caG>caA		kelch-like family member 38							76.0	84.0	81.0					8																	124664939		2079	4200	6279	SO:0001819	synonymous_variant	340359	0	0					g.chr8:124664939C>T		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.228G>A	chr8.hg19:g.124664939C>T		0					CTD-2552K11.2_ENST00000524355.1_RNA	p.Q76Q	NM_001081675.2	NP_001075144.2	0	0	0	1.973482	Q2WGJ6	KLH38_HUMAN		1	251	-			A0PK12	Silent	SNP	ENST00000325995.7	1	1	hg19	c.228G>A	CCDS43766.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1	0	0	0		2	2	2	0		0	0	54		54	52	1	2.060000	-11.587650	1	0.170000				11	11		321	322	0		1	0		0	0	54	0		9.984307e-01	1.870314e-02	0	0	0	6	0	11	321
FAM91A1	157769	broad.mit.edu	37	8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	87										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)			GGATATTATGGTGAAAGGCTT	0.423																																						ENST00000334705.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999963	0.990000	1.000000																										0				28						c.(259-261)Gtg>Atg		family with sequence similarity 91, member A1							132.0	121.0	124.0					8																	124787488		1953	4144	6097	SO:0001583	missense	157769	0	0					g.chr8:124787488G>A	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.259G>A	chr8.hg19:g.124787488G>A	ENSP00000335082:p.Val87Met	0					FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	p.V87M	NM_144963.2	NP_659400	0	0	0	1.973482	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)	3	505	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	1	1	hg19	c.259G>A	CCDS6346.2	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593471	0.86953	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.53206	0.63;1.21	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000001	T	0.72137	0.3423	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75958	-0.3134	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	87;87	E7ER68;Q658Y4	.;F91A1_HUMAN	M	87	ENSP00000429491:V87M;ENSP00000335082:V87M	ENSP00000335082:V87M	V	+	1	0	0	FAM91A1	124856669	124856669	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.655000	0.98512	2.495000	0.84180	0.655000	0.94253	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_144963			45	44		277	270	1		1	1		0	0	74	0		1	9.995283e-01	0	20	0	53	0	45	277
FAM91A1	157769	broad.mit.edu	37	8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	202										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)			CAGGCCCTCAACTCTCTGGAT	0.318																																						ENST00000334705.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(604-606)caA>caC		family with sequence similarity 91, member A1							117.0	109.0	112.0					8																	124792281		1864	4106	5970	SO:0001583	missense	157769	0	0					g.chr8:124792281A>C	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.606A>C	chr8.hg19:g.124792281A>C	ENSP00000335082:p.Gln202His	0					FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	p.Q202H	NM_144963.2	NP_659400	0	0	0	1.973482	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)	7	852	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	1	1	hg19	c.606A>C	CCDS6346.2	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265700	0.80358	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47869	0.83;1.41	5.51	-7.82	0.01205	5.51	-7.82	0.01205	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.74250	-0.3726	10	0.59425	D	0.04	.	17.649	0.88157	0.6315:0.0:0.3685:0.0	.	202;202	E7ER68;Q658Y4	.;F91A1_HUMAN	H	202	ENSP00000429491:Q202H;ENSP00000335082:Q202H	ENSP00000335082:Q202H	Q	+	3	2	2	FAM91A1	124861462	124861462	0.993000	0.37304	0.698000	0.30274	0.994000	0.84299	0.228000	0.17814	-1.609000	0.01585	-0.396000	0.06452	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_144963			62	59		232	230	1		1	1		0	0	44	0		1	1	0	22	0	79	0	62	232
FER1L6	654463	broad.mit.edu	37	8	124992756	124992756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124992756G>A	ENST00000522917.1	+	11	1321	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	372						integral component of membrane (GO:0016021)				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)			GGCTCGCCCAGGAACCACAGT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1	0.750000	0.370000	6.500000e-01	4.500000e-01	0.540000	0.556821	0.540000	0.540000																										0				118						c.(1114-1116)aGg>aAg		fer-1-like family member 6							102.0	104.0	103.0					8																	124992756		1876	4093	5969	SO:0001583	missense	654463	0	0					g.chr8:124992756G>A	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.1115G>A	chr8.hg19:g.124992756G>A	ENSP00000428280:p.Arg372Lys	0		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	p.R372K	NM_001039112.2	NP_001034201.2	0	0	0	1.973482	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)	11	1321	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)			Missense_Mutation	SNP	ENST00000522917.1	1	1	hg19	c.1115G>A	CCDS43767.1	0	.	.	.	.	.	.	.	.	.	.	G	31	5.099226	0.94197	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82803	-1.65;-1.65	5.53	5.53	0.82687	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.073530	0.52532	U	0.000064	D	0.90369	0.6986	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88672	0.3196	10	0.36615	T	0.2	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	372	Q2WGJ9	FR1L6_HUMAN	K	372	ENSP00000428280:R372K;ENSP00000381982:R372K	ENSP00000381982:R372K	R	+	2	0	0	FER1L6	125061937	125061937	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.607000	0.88179	0.655000	0.94253	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	0	1		18	2	2	1		1	1	119		119	118	1	2.060000	-3.012495	1	0.170000	NM_001039112			29	29		590	570	0		1			1	0	119	0		9.526773e-01	0	0	0	0	0	0	29	590
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	T	rs199510818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	777						integral component of membrane (GO:0016021)		p.V777V(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)			AAGCAAAAGTCGACGTGTACC	0.498																																						ENST00000522917.1	1.000000	0.500000	8.900000e-01	6.100000e-01	0.740000	0.753939	0.740000	1.000000																										1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	118						c.(2329-2331)gtC>gtT		fer-1-like family member 6							98.0	98.0	98.0					8																	125047562		1948	4153	6101	SO:0001819	synonymous_variant	654463	16	120900	42				g.chr8:125047562C>T	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.2331C>T	chr8.hg19:g.125047562C>T		0					FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V	p.V777V	NM_001039112.2	NP_001034201.2	0	0	0	1.973482	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)	19	2537	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)			Silent	SNP	ENST00000522917.1	1	1	hg19	c.2331C>T	CCDS43767.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-7.002183	1	0.170000	NM_001039112			28	28		410	399	0		1	0		0	0	88	0		1	0	0	0	0	1	0	28	410
FER1L6	654463	broad.mit.edu	37	8	125072466	125072466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125072466G>A	ENST00000522917.1	+	23	3126	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	974						integral component of membrane (GO:0016021)				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)			TGAGCCACCAGACATCACCCA	0.572																																						ENST00000522917.1	0.360000	0.100000	2.900000e-01	1.500000e-01	0.210000	0.226599	0.210000	0.210000																										0				118						c.(2920-2922)Gac>Aac		fer-1-like family member 6							105.0	117.0	113.0					8																	125072466		2195	4296	6491	SO:0001583	missense	654463	0	0					g.chr8:125072466G>A	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.2920G>A	chr8.hg19:g.125072466G>A	ENSP00000428280:p.Asp974Asn	0					FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	p.D974N	NM_001039112.2	NP_001034201.2	0	0	0	1.973482	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)	23	3126	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)			Missense_Mutation	SNP	ENST00000522917.1	0	1	hg19	c.2920G>A	CCDS43767.1	0	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537410	0.65085	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82433	-1.61;-1.61	5.65	4.78	0.61160	5.65	4.78	0.61160	.	0.062856	0.64402	U	0.000008	D	0.87752	0.6256	M	0.67700	2.07	0.51767	D	0.999935	D	0.65815	0.995	P	0.60949	0.881	D	0.85856	0.1407	10	0.26408	T	0.33	-7.5478	14.0915	0.64993	0.0731:0.0:0.9269:0.0	.	974	Q2WGJ9	FR1L6_HUMAN	N	974	ENSP00000428280:D974N;ENSP00000381982:D974N	ENSP00000381982:D974N	D	+	1	0	0	FER1L6	125141647	125141647	1.000000	0.71417	0.150000	0.22450	0.175000	0.22909	5.110000	0.64622	1.402000	0.46780	0.655000	0.94253	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-3.245456	1	0.170000	NM_001039112			10	9		547	537	0		1	0		0	0	116	0		9.965997e-01	4.216714e-04	0	0	0	2	0	10	547
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				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)			CCCCTCAGCCGCCCAGACACC	0.473																																						ENST00000522917.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.994659	0.990000	1.000000																										0				118						c.(5392-5394)cGc>cAc		fer-1-like family member 6							150.0	149.0	149.0					8																	125131850		1922	4125	6047	SO:0001583	missense	654463	4	120868	40				g.chr8:125131850G>A	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.5393G>A	chr8.hg19:g.125131850G>A	ENSP00000428280:p.Arg1798His	0					FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	p.R1798H	NM_001039112.2	NP_001034201.2	0	0	0	1.973482	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)	41	5599	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)			Missense_Mutation	SNP	ENST00000522917.1	1	1	hg19	c.5393G>A	CCDS43767.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	0	FER1L6	125201031	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	1	0	1		2	2	2	0		0	0	115		115	112	1	2.060000	-3.221883	1	0.170000	NM_001039112			59	58		520	495	1		1			0	0	115	0		1	0	0	0	0	0	0	59	520
NDUFB9	4715	broad.mit.edu	37	8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000276689.3	+	2	374	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000522532.1_Missense_Mutation_p.Y97C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACGATTGCTACAAGGTAGGT	0.493																																						ENST00000276689.3	0.920000	0.330000	7.600000e-01	4.400000e-01	0.580000	0.607566	0.580000	0.570000																										0				8						c.(289-291)tAc>tGc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa							80.0	73.0	75.0					8																	125555516		2203	4300	6503	SO:0001583	missense	4715	0	0					g.chr8:125555516A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.290A>G	chr8.hg19:g.125555516A>G	ENSP00000276689:p.Tyr97Cys	0					NDUFB9_ENST00000522532.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C	p.Y97C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	0	0	0	1.973482	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)	2	374	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	1	1	hg19	c.290A>G	CCDS6352.1	0	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981916	0.74474	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.75;-0.69	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.178;1.0	B;D	0.66979	0.076;0.948	D	0.90846	0.4727	10	0.56958	D	0.05	-18.4647	15.5444	0.76086	1.0:0.0:0.0:0.0	.	97;97	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	97;97;97;86	ENSP00000276689:Y97C;ENSP00000428282:Y97C;ENSP00000431115:Y97C;ENSP00000430322:Y86C	ENSP00000276689:Y97C	Y	+	2	0	0	NDUFB9	125624697	125624697	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.852000	0.92215	2.070000	0.61991	0.533000	0.62120	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-15.460570	1	0.170000	NM_005005			13	13		247	241	0		1	1		0	0	43	0		9.994996e-01	1	0	96	0	1203	0	13	247
MTSS1	9788	broad.mit.edu	37	8	125575120	125575120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125575120C>A	ENST00000518547.1	-	10	1411	c.938G>T	c.(937-939)aGg>aTg	p.R313M	MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	313	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGGACAGCCTCACAGGAGC	0.622																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1	0.890000	0.260000	7.100000e-01	3.700000e-01	0.520000	0.551443	0.520000	0.500000																										0				37						c.(937-939)aGg>aTg		metastasis suppressor 1							57.0	49.0	52.0					8																	125575120		2203	4300	6503	SO:0001583	missense	9788	0	0					g.chr8:125575120C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.938G>T	chr8.hg19:g.125575120C>A	ENSP00000429064:p.Arg313Met	0					MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|NDUFB9_ENST00000522532.1_Intron	p.R313M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	0	0	0	1.973482	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)	10	1411	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	1	1	hg19	c.938G>T	CCDS6353.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.426790|4.426790	0.83667|0.83667	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.|T;T;T;T;T;T;T;T	.|0.62788	.|1.15;1.01;1.1;0.0;1.03;1.1;0.84;0.33	5.6|5.6	5.6|5.6	0.85130|0.85130	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81074|0.81074	0.4747|0.4747	M|M	0.76838|0.76838	2.35|2.35	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	.|0.91635	.|0.997;0.997;0.999;0.997;0.999;0.997	T|T	0.82096|0.82096	-0.0626|-0.0626	5|10	.|0.72032	.|D	.|0.01	-22.8088|-22.8088	19.9823|19.9823	0.97331|0.97331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;47;313;313;313;113	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.|.;.;.;MTSS1_HUMAN;.;.	D|M	60;160|313;313;113;47;317;113;203;113	.|ENSP00000367256:R313M;ENSP00000429064:R313M;ENSP00000346119:R113M;ENSP00000378884:R47M;ENSP00000322804:R317M;ENSP00000393606:R113M;ENSP00000428319:R203M;ENSP00000428145:R113M	.|ENSP00000322804:R317M	E|R	-|-	3|2	2|0	2|0	MTSS1|MTSS1	125644301|125644301	125644301|125644301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.528000|0.528000	0.34623|0.34623	7.818000|7.818000	0.86416|0.86416	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAG|AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-11.524930	1	0.170000	NM_014751			9	9		194	188	0		1	0		0	0	33	0		9.937255e-01	4.979821e-01	0	0	0	35	0	9	194
LONRF1	91694	broad.mit.edu	37	8	12598479	12598479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12598479G>A	ENST00000398246.3	-	3	936	c.867C>T	c.(865-867)ctC>ctT	p.L289L	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	289							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			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)		CAGCATCGCAGAGTACTTTTC	0.338																																						ENST00000398246.3	0.370000	0.150000	3.100000e-01	1.900000e-01	0.240000	0.257672	0.240000	0.240000																										0				19						c.(865-867)ctC>ctT		LON peptidase N-terminal domain and ring finger 1							175.0	177.0	176.0					8																	12598479		1824	4080	5904	SO:0001819	synonymous_variant	91694	0	0					g.chr8:12598479G>A	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.867C>T	chr8.hg19:g.12598479G>A		0					LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.L289L	NM_152271.3	NP_689484.3	0	0	0	1.973482	Q17RB8	LONF1_HUMAN		3	936	-			B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	1	1	hg19	c.867C>T	CCDS5987.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	0	0	1		2	2	2	0		0	0	174		174	172	1	2.060000	-2.047075	0	0.170000	NM_152271			19	19		876	858	0		1	0		0	0	174	0		9.999883e-01	3.688342e-01	0	1	0	57	0	19	876
MTSS1	9788	broad.mit.edu	37	8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000518547.1	-	7	1054	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000431961.2_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	194	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTACAGAATCGGCCACGTTC	0.438																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				37						c.(580-582)cGa>cAa		metastasis suppressor 1							105.0	89.0	94.0					8																	125580657		2203	4300	6503	SO:0001583	missense	9788	1	121412	34				g.chr8:125580657C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.581G>A	chr8.hg19:g.125580657C>T	ENSP00000429064:p.Arg194Gln	0					MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR	p.R194Q	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	0	0	0	1.973482	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)	7	1054	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	1	1	hg19	c.581G>A	CCDS6353.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.382456	0.95967	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.58652	0.67;0.75;0.73;0.32	5.55	5.55	0.83447	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.061993	0.64402	D	0.000004	T	0.75280	0.3828	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.97110	0.697;1.0;0.998;0.999	T	0.74544	-0.3630	10	0.52906	T	0.07	-14.0004	19.861	0.96785	0.0:1.0:0.0:0.0	.	84;194;194;194	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	Q	194;194;198;84	ENSP00000367256:R194Q;ENSP00000429064:R194Q;ENSP00000322804:R198Q;ENSP00000428319:R84Q	ENSP00000322804:R198Q	R	-	2	0	0	MTSS1	125649838	125649838	1.000000	0.71417	0.931000	0.37212	0.737000	0.42083	7.689000	0.84165	2.767000	0.95098	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.923548	1	0.170000	NM_014751			51	50		296	290	1		1	1		0	0	66	0		1	9.988100e-01	0	3	0	58	0	51	296
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					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)			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)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5	1.000000	0.750000	1	9.300000e-01	0.990000	0.973083	0.990000	1.000000																										0				14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109.0	103.0	105.0					8																	126030321		1828	4076	5904	SO:0001583	missense	6713	3	120800	34				g.chr8:126030321G>A	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.1225G>A	chr8.hg19:g.126030321G>A	ENSP00000265896:p.Ala409Thr	0					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	0	0	0	1.973482	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)	8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	1	1	hg19	c.1225G>A	CCDS47918.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	0	SQLE	126099503	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.774735	1	0.170000	NM_003129			23	23		209	204	1		1	1		0	0	55	0		9.999994e-01	9.999983e-01	0	28	0	179	0	23	209
KIAA0196	9897	broad.mit.edu	37	8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1006					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423																																						ENST00000318410.7	0.640000	0.320000	5.600000e-01	3.800000e-01	0.460000	0.476732	0.460000	0.460000																										0				42						c.(3016-3018)Gat>Tat		KIAA0196							146.0	148.0	147.0					8																	126051140		2203	4300	6503	SO:0001583	missense	9897	0	0					g.chr8:126051140C>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3016G>T	chr8.hg19:g.126051140C>A	ENSP00000318016:p.Asp1006Tyr	0					KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	p.D1006Y	NM_014846.3	NP_055661.3	0	0	0	1.973482	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)	25	3365	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	1	1	hg19	c.3016G>T	CCDS6355.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837395|4.837395	0.91117|0.91117	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.92|5.92	5.92|5.92	0.95590|0.95590	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.180662|.	0.64402|.	D|.	0.000020|.	T|T	0.77212|0.77212	0.4097|0.4097	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.975|.	D;P|.	0.71414|.	0.973;0.88|.	T|T	0.74481|0.74481	-0.3651|-0.3651	10|5	0.72032|.	D|.	0.01|.	-17.7857|-17.7857	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;1006|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Y|N	1006;858|622	ENSP00000318016:D1006Y;ENSP00000429676:D858Y|.	ENSP00000318016:D1006Y|.	D|K	-|-	1|3	0|2	0|2	KIAA0196|KIAA0196	126120322|126120322	126120322|126120322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	1	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-4.084891	1	0.170000	NM_014846			31	31		742	731	0		1	1		0	0	139	0		1	9.789472e-01	0	9	0	139	0	31	742
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1384	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			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						TTAAGTAGGCGCTTTAAGATT	0.453																																						ENST00000276297.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(4150-4152)Cgc>Tgc		DLC1 Rho GTPase activating protein							131.0	136.0	135.0					8																	12946138		2203	4300	6503	SO:0001583	missense	10395	4	121412	37				g.chr8:12946138G>A	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.4150C>T	chr8.hg19:g.12946138G>A	ENSP00000276297:p.Arg1384Cys	0					DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000510318.1_5'UTR	p.R1384C	NM_182643.2	NP_872584.2	0	0	0	1.973482	Q96QB1	RHG07_HUMAN		16	4559	-			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	1	1	hg19	c.4150C>T	CCDS5989.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	0	DLC1	12990509	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_182643, NM_006094			113	111		529	519	1		1	0		0	0	112	0		1	9.998161e-01	0	0	0	60	0	113	529
DLC1	10395	broad.mit.edu	37	8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	918					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)			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						TTGACTATCCGCTGCATCCCC	0.562																																						ENST00000276297.4	1.000000	0.630000	1	7.800000e-01	0.950000	0.912236	0.950000	1.000000																										0				110						c.(2752-2754)Cgg>Tgg		DLC1 Rho GTPase activating protein							85.0	76.0	79.0					8																	12957094		2203	4300	6503	SO:0001583	missense	10395	0	0					g.chr8:12957094G>A	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.2752C>T	chr8.hg19:g.12957094G>A	ENSP00000276297:p.Arg918Trp	0					DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	p.R918W	NM_182643.2	NP_872584.2	0	0	0	1.973482	Q96QB1	RHG07_HUMAN		9	3161	-			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	1	1	hg19	c.2752C>T	CCDS5989.1	1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751750	0.69533	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06849	3.48;3.25;3.25;3.26	5.43	3.28	0.37604	5.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.64687	0.928;0.834;0.903	T	0.00507	-1.1699	10	0.87932	D	0	.	12.3702	0.55250	0.0:0.0:0.4075:0.5925	.	918;515;481	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	W	918;481;515;407	ENSP00000276297:R918W;ENSP00000351797:R481W;ENSP00000422595:R515W;ENSP00000428028:R407W	ENSP00000276297:R918W	R	-	1	2	2	DLC1	13001465	13001465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.539000	0.53604	0.584000	0.29591	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-8.108611	1	0.170000	NM_182643, NM_006094			23	22		255	251	0		1	0		0	0	46	0		9.999994e-01	9.243019e-01	0	0	0	51	0	23	255
DLC1	10395	broad.mit.edu	37	8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	675					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)			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						GCTCTTGAGCTTCAGGCTCTC	0.547																																						ENST00000276297.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(2023-2025)aAg>aGg		DLC1 Rho GTPase activating protein							120.0	110.0	114.0					8																	12957822		2203	4300	6503	SO:0001583	missense	10395	0	0					g.chr8:12957822T>C	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.2024A>G	chr8.hg19:g.12957822T>C	ENSP00000276297:p.Lys675Arg	0					DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	p.K675R	NM_182643.2	NP_872584.2	0	0	0	1.973482	Q96QB1	RHG07_HUMAN		9	2433	-			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	1	1	hg19	c.2024A>G	CCDS5989.1	1	.	.	.	.	.	.	.	.	.	.	T	5.192	0.221034	0.09863	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04156	3.89;3.69;3.69;3.74	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.053786	0.64402	D	0.000001	T	0.02533	0.0077	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.23540	0.087;0.004;0.025	B;B;B	0.20184	0.014;0.006;0.028	T	0.44190	-0.9344	10	0.07030	T	0.85	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	675;272;238	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	675;238;272;164	ENSP00000276297:K675R;ENSP00000351797:K238R;ENSP00000422595:K272R;ENSP00000428028:K164R	ENSP00000276297:K675R	K	-	2	0	0	DLC1	13002193	13002193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.344000	0.44010	2.168000	0.68352	0.533000	0.62120	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	0		2	2	2	0		0	0	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_182643, NM_006094			147	141		615	605	1		1	0		0	0	117	0		1	9.917721e-01	0	0	0	33	0	147	615
DLC1	10395	broad.mit.edu	37	8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	643					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)			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						AGTTCCTTGGGAGAGGGCAGG	0.572																																						ENST00000276297.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(1927-1929)Ccc>Tcc		DLC1 Rho GTPase activating protein							91.0	87.0	89.0					8																	12957919		2203	4300	6503	SO:0001583	missense	10395	0	0					g.chr8:12957919G>A	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.1927C>T	chr8.hg19:g.12957919G>A	ENSP00000276297:p.Pro643Ser	0					DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	p.P643S	NM_182643.2	NP_872584.2	0	0	0	1.973482	Q96QB1	RHG07_HUMAN		9	2336	-			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	1	1	hg19	c.1927C>T	CCDS5989.1	1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753415	0.69648	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07567	3.48;3.28;3.27;3.18	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.108634	0.64402	D	0.000005	T	0.26810	0.0656	L	0.56769	1.78	0.80722	D	1	D;B;D	0.71674	0.97;0.127;0.998	P;B;D	0.77557	0.664;0.041;0.99	T	0.00290	-1.1843	10	0.52906	T	0.07	.	18.6244	0.91332	0.0:0.0:1.0:0.0	.	643;240;206	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	643;206;240;132	ENSP00000276297:P643S;ENSP00000351797:P206S;ENSP00000422595:P240S;ENSP00000428028:P132S	ENSP00000276297:P643S	P	-	1	0	0	DLC1	13002290	13002290	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.657000	0.83745	2.699000	0.92147	0.655000	0.94253	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	0		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_182643, NM_006094			127	125		602	593	1		1	0		0	0	114	0		1	9.983684e-01	0	0	0	47	0	127	602
DLC1	10395	broad.mit.edu	37	8	12968258	12968258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	499	SAM.				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)			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						TACCTGCATAGAGCCTCAATG	0.358																																						ENST00000276297.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				110						c.(1495-1497)Cta>Tta		DLC1 Rho GTPase activating protein							167.0	162.0	164.0					8																	12968258		2203	4300	6503	SO:0001819	synonymous_variant	10395	0	0					g.chr8:12968258G>A	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.1495C>T	chr8.hg19:g.12968258G>A		0					DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000512044.2_Silent_p.L96L	p.L499L	NM_182643.2	NP_872584.2	0	0	0	1.973482	Q96QB1	RHG07_HUMAN		7	1904	-			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	1	1	hg19	c.1495C>T	CCDS5989.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-20.000000	1	0.170000	NM_182643, NM_006094			126	125		519	513	1		1	0		0	0	163	0		1	9.923118e-01	0	0	0	33	0	126	519
KIAA0196	9897	broad.mit.edu	37	8	126093973	126093973	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000517845.1_Silent_p.L2L|KIAA0196_ENST00000521109.1_5'Flank	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	150					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408																																						ENST00000318410.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				42						c.(448-450)Cta>Tta		KIAA0196							159.0	134.0	142.0					8																	126093973		2203	4300	6503	SO:0001819	synonymous_variant	9897	0	0					g.chr8:126093973G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.448C>T	chr8.hg19:g.126093973G>A		0					KIAA0196_ENST00000521109.1_5'Flank|KIAA0196_ENST00000517845.1_Silent_p.L2L	p.L150L	NM_014846.3	NP_055661.3	0	0	0	1.973482	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)	5	797	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	1	1	hg19	c.448C>T	CCDS6355.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-3.320871	1	0.170000	NM_014846			49	47		290	279	0		1	1		0	0	65	0		1	9.999740e-01	0	21	0	73	0	49	290
ASAP1	50807	broad.mit.edu	37	8	131146542	131146542	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000518721.1	-	15	1444	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000357668.1_Splice_Site_p.A406V	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	406	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						AACTACTTACGCTACATAATC	0.328																																						ENST00000518721.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1216-1218)gCa>gTa		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							164.0	147.0	153.0					8																	131146542		2203	4300	6503	SO:0001630	splice_region_variant	50807	1	121404	30				g.chr8:131146542G>A	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.1217+1C>T	chr8.hg19:g.131146542G>A		0					ASAP1_ENST00000357668.1_Splice_Site_p.A406V	p.A406V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	0	0	0	1.973482	Q9ULH1	ASAP1_HUMAN		15	1444	-			B2RNV3	Splice_Site	SNP	ENST00000518721.1	1	0	hg19	c.1217C>T	CCDS6362.1	1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180911	0.21787	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.76578	-1.03;-1.03	5.95	5.95	0.96441	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105801	0.64402	D	0.000005	T	0.69504	0.3118	L	0.43646	1.37	0.80722	D	1	B;B;P	0.37061	0.428;0.428;0.58	B;B;B	0.26770	0.051;0.051;0.073	T	0.67894	-0.5552	9	.	.	.	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	406;406;409	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	409;406;406	ENSP00000350297:A406V;ENSP00000429900:A406V	.	A	-	2	0	0	ASAP1	131215724	131215724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.811000	0.96726	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.797986	1	0.170000	NM_018482	Missense_Mutation		46	46		173	170	1		1	0		0	0	45	0		1	9.999858e-01	0	1	0	66	0	46	173
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512										HNSCC(32;0.087)																												ENST00000286355.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				134						c.(3262-3264)Cgg>Tgg		adenylate cyclase 8 (brain)							120.0	112.0	115.0					8																	131795943		2203	4300	6503	SO:0001583	missense	114	0	0					g.chr8:131795943G>A	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.3262C>T	chr8.hg19:g.131795943G>A	ENSP00000286355:p.Arg1088Trp	0	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	p.R1088W	NM_001115.2	NP_001106.1	0	0	0	1.973482	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)	17	5354	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)			Missense_Mutation	SNP	ENST00000286355.5	1	1	hg19	c.3262C>T	CCDS6363.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595263	0.86953	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.88277	-2.36;-2.36	5.4	5.4	0.78164	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	H	0.98466	4.24	0.40008	D	0.975253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98911	1.0780	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	957;1088	E7EVL1;P40145	.;ADCY8_HUMAN	W	1088;957	ENSP00000286355:R1088W;ENSP00000367161:R957W	ENSP00000286355:R1088W	R	-	1	2	2	ADCY8	131865125	131865125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.911000	0.56378	2.681000	0.91329	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-2.964126	1	0.170000				40	39		202	199	1		1	0		0	0	32	0		1	1.352435e-01	0	0	0	4	0	40	202
ADCY8	114	broad.mit.edu	37	8	131859759	131859759	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	805					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388										HNSCC(32;0.087)																												ENST00000286355.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999486	0.990000	1.000000																										0				134						c.(2413-2415)Ctg>Ttg		adenylate cyclase 8 (brain)							46.0	47.0	47.0					8																	131859759		2203	4300	6503	SO:0001630	splice_region_variant	114	0	0					g.chr8:131859759G>A	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.2413-1C>T	chr8.hg19:g.131859759G>A		0	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.L805L	NM_001115.2	NP_001106.1	0	0	0	1.973482	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)	11	4505	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)			Splice_Site	SNP	ENST00000286355.5	1	0	hg19	c.2413C>T	CCDS6363.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000		Silent		15	12		62	56	1		1	0		0	0	28	0		9.998144e-01	2.702046e-01	0	0	0	5	0	15	62
EFR3A	23167	broad.mit.edu	37	8	132952824	132952824	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)			GATCCAAAAGTAATTTGATCT	0.428																																						ENST00000254624.5	1.000000	0.800000	1	9.900000e-01	0.990000	0.987476	0.990000	1.000000																										0				35						c.e2+2		EFR3 homolog A (S. cerevisiae)							74.0	78.0	76.0					8																	132952824		2122	4249	6371	SO:0001630	splice_region_variant	23167	0	0					g.chr8:132952824T>C	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.87+2T>C	chr8.hg19:g.132952824T>C		0					EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site		NM_015137.4	NP_055952.2	0	0	0	1.973482	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)	2	312	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	0	1	hg19		CCDS34942.2	1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701431	0.88924	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	.	.	.	5.93	5.93	0.95920	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5597	0.76234	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	EFR3A	133022006	133022006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.269000	0.75478	0.454000	0.30748	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-18.147800	1	0.170000	NM_015137	Intron		10	9		62	59	0		1	1		0	0	9	0		9.967316e-01	9.437730e-01	0	33	0	1	0	10	62
EFR3A	23167	broad.mit.edu	37	8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	287						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)			TTCAGGCTCAGTATTCTCACC	0.413																																						ENST00000254624.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										0				35						c.(859-861)caG>caT		EFR3 homolog A (S. cerevisiae)							93.0	81.0	85.0					8																	132980547		2203	4300	6503	SO:0001583	missense	23167	0	0					g.chr8:132980547G>T	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.861G>T	chr8.hg19:g.132980547G>T	ENSP00000254624:p.Gln287His	0					EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	p.Q287H	NM_015137.4	NP_055952.2	0	0	0	1.973482	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)	9	1086	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	1	1	hg19	c.861G>T	CCDS34942.2	1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868286	0.72065	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.49720	0.77;0.77;0.77	5.66	3.84	0.44239	5.66	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.81112	2.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.66814	-0.5828	10	0.87932	D	0	-1.3492	6.3182	0.21202	0.1352:0.0:0.6941:0.1707	.	287	Q14156	EFR3A_HUMAN	H	287;287;287;251	ENSP00000254624:Q287H;ENSP00000334769:Q287H;ENSP00000428086:Q251H	ENSP00000254624:Q287H	Q	+	3	2	2	EFR3A	133049729	133049729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.014000	0.40951	1.356000	0.45884	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_015137			25	24		119	117	1		1	1		0	0	25	0		9.999999e-01	9.999990e-01	0	18	0	99	0	25	119
EFR3A	23167	broad.mit.edu	37	8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	349						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		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)			GCGTCTCAGCGTTGAATTCGA	0.398																																						ENST00000254624.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										1	Deletion - Frameshift(1)	p.S348fs*15(1)	breast(1)	35						c.(1045-1047)Gtt>Att		EFR3 homolog A (S. cerevisiae)							100.0	93.0	95.0					8																	132982776		2203	4300	6503	SO:0001583	missense	23167	12	121406	43				g.chr8:132982776G>A	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.1045G>A	chr8.hg19:g.132982776G>A	ENSP00000254624:p.Val349Ile	0					EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	p.V349I	NM_015137.4	NP_055952.2	0	0	0	1.973482	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)	10	1270	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	1	1	hg19	c.1045G>A	CCDS34942.2	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441885	0.83993	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.35048	1.33;1.33;1.34	5.54	5.54	0.83059	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.43923	1.385	0.80722	D	1	P	0.35401	0.499	B	0.29785	0.107	T	0.05022	-1.0911	10	0.25751	T	0.34	-23.4206	18.4707	0.90773	0.0:0.0:1.0:0.0	.	349	Q14156	EFR3A_HUMAN	I	349;349;349;313	ENSP00000254624:V349I;ENSP00000334769:V349I;ENSP00000428086:V313I	ENSP00000254624:V349I	V	+	1	0	0	EFR3A	133051958	133051958	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.473000	0.97714	2.622000	0.88805	0.591000	0.81541	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_015137			38	36		188	185	1		1	1		0	0	41	0		1	1	0	26	0	151	0	38	188
EFR3A	23167	broad.mit.edu	37	8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	560						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)			CTTATAACTATTGAACTGGCT	0.363																																						ENST00000254624.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1678-1680)aTt>aCt		EFR3 homolog A (S. cerevisiae)							128.0	127.0	127.0					8																	132996489		2203	4300	6503	SO:0001583	missense	23167	0	0					g.chr8:132996489T>C	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.1679T>C	chr8.hg19:g.132996489T>C	ENSP00000254624:p.Ile560Thr	0					EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	p.I560T	NM_015137.4	NP_055952.2	0	0	0	1.973482	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)	15	1904	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	1	1	hg19	c.1679T>C	CCDS34942.2	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603648	0.87157	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39406	1.08;1.08;1.09	6.02	6.02	0.97574	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.80722	D	1	P	0.41131	0.739	B	0.40901	0.343	T	0.49093	-0.8975	10	0.87932	D	0	-25.7963	15.7305	0.77800	0.0:0.0:0.0:1.0	.	560	Q14156	EFR3A_HUMAN	T	560;560;560;524	ENSP00000254624:I560T;ENSP00000334769:I560T;ENSP00000428086:I524T	ENSP00000254624:I560T	I	+	2	0	0	EFR3A	133065671	133065671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.299000	0.77371	0.528000	0.53228	ATT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-20.000000	1	0.170000	NM_015137			67	67		318	314	1		1	1		0	0	73	0		1	1	0	23	0	144	0	67	318
OC90	729330	broad.mit.edu	37	8	133053837	133053837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000443356.2	-	5	365	c.279C>T	c.(277-279)gaC>gaT	p.D93D	OC90_ENST00000262283.5_Silent_p.D289D|OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D			Q02509	OC90_HUMAN	otoconin 90	93	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512																																						ENST00000443356.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(277-279)gaC>gaT		otoconin 90							47.0	49.0	49.0					8																	133053837		1998	4164	6162	SO:0001819	synonymous_variant	729330	0	0					g.chr8:133053837G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.279C>T	chr8.hg19:g.133053837G>A		0					OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000262283.5_Silent_p.D289D|OC90_ENST00000603859.1_Silent_p.D93D	p.D93D			0	0	0	1.973482	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)	5	365	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		B4DNG8	Silent	SNP	ENST00000443356.2	1	1	hg19	c.279C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001080399			41	39		177	170	1		1			0	0	63	0		1	0	0	0	0	0	0	41	177
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					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)			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)	TCCACCTCTGGGACGTCTTTC	0.502																																						ENST00000388996.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				70						c.(859-861)Cca>Tca		potassium voltage-gated channel, KQT-like subfamily, member 3	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)						135.0	127.0	130.0					8																	133187774		2203	4300	6503	SO:0001583	missense	3786	0	0					g.chr8:133187774G>A	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.859C>T	chr8.hg19:g.133187774G>A	ENSP00000373648:p.Pro287Ser	0					KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S	p.P287S	NM_004519.3	NP_004510.1	0	0	0	1.973482	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)	5	1279	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	1	1	hg19	c.859C>T	CCDS34943.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174095	0.57692	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97430	-4.38;-4.38;-4.38	5.39	5.39	0.77823	5.39	5.39	0.77823	Ion transport (1);	0.061356	0.64402	D	0.000003	D	0.96703	0.8924	L	0.39514	1.22	0.40614	D	0.981702	P;B	0.48089	0.905;0.44	P;B	0.52823	0.71;0.138	D	0.97520	1.0072	10	0.66056	D	0.02	-15.9165	18.5028	0.90888	0.0:0.0:1.0:0.0	.	287;287	E7ET42;O43525	.;KCNQ3_HUMAN	S	287;167;287;276;166	ENSP00000373648:P287S;ENSP00000429799:P167S;ENSP00000428790:P287S	ENSP00000373648:P287S	P	-	1	0	0	KCNQ3	133256956	133256956	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.478000	0.60230	2.674000	0.91012	0.655000	0.94253	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-19.999980	1	0.170000	NM_004519			54	54		320	314	1		1	0		0	0	80	0		1	2.734638e-01	0	0	0	7	0	54	320
LRRC6	23639	broad.mit.edu	37	8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000519595.1	-	8	1041	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	315	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313																																						ENST00000519595.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(943-945)Aag>Cag		leucine rich repeat containing 6							82.0	84.0	83.0					8																	133627315		2202	4294	6496	SO:0001583	missense	23639	0	0					g.chr8:133627315T>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.943A>C	chr8.hg19:g.133627315T>G	ENSP00000429791:p.Lys315Gln	0					LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q	p.K315Q			0	0	0	1.973482	Q86X45	TILB_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)	8	1041	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	1	1	hg19	c.943A>C		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.334786|1.334786	0.24253|0.24253	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.50813|.	0.73;0.95;0.73|.	4.93|4.93	2.54|2.54	0.30619|0.30619	4.93|4.93	2.54|2.54	0.30619|0.30619	CS-like domain (1);|.	0.318240|0.318240	0.35436|0.35436	N|N	0.003212|0.003212	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.58669|0.58669	1.825|1.825	0.21499|0.21499	N|N	0.999661|0.999661	P|.	0.42735|.	0.788|.	B|.	0.24006|.	0.05|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.41790|.	T|.	0.15|.	-18.0453|-18.0453	5.7871|5.7871	0.18338|0.18338	0.0:0.2776:0.0:0.7224|0.0:0.2776:0.0:0.7224	.|.	315|.	Q86X45|.	LRRC6_HUMAN|.	Q|T	315|36	ENSP00000429791:K315Q;ENSP00000428610:K315Q;ENSP00000250173:K315Q|.	ENSP00000250173:K315Q|.	K|K	-|-	1|2	0|0	0|0	LRRC6|LRRC6	133696497|133696497	133696497|133696497	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.664000|0.664000	0.39144|0.39144	1.613000|1.613000	0.36900|0.36900	0.831000|0.831000	0.34780|0.34780	0.460000|0.460000	0.39030|0.39030	AAG|AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_012472			54	54		224	220	1		1	0		0	0	67	0		1	6.621168e-01	0	1	0	10	0	54	224
LRRC6	23639	broad.mit.edu	37	8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000519595.1	-	5	651	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	185					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423																																						ENST00000519595.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(553-555)Gaa>Aaa		leucine rich repeat containing 6							318.0	283.0	295.0					8																	133645086		2203	4300	6503	SO:0001583	missense	23639	0	0					g.chr8:133645086C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.553G>A	chr8.hg19:g.133645086C>T	ENSP00000429791:p.Glu185Lys	0					LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron	p.E185K			0	0	0	1.973482	Q86X45	TILB_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)	5	651	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	1	1	hg19	c.553G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895431	0.33442	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.56275	0.63;0.47;0.63	5.23	3.44	0.39384	5.23	3.44	0.39384	.	0.437579	0.26514	N	0.023948	T	0.36936	0.0985	L	0.28192	0.835	0.36467	D	0.867013	B	0.24368	0.102	B	0.20184	0.028	T	0.30001	-0.9993	10	0.29301	T	0.29	-12.1542	10.9021	0.47058	0.0:0.8472:0.0:0.1528	.	185	Q86X45	LRRC6_HUMAN	K	185	ENSP00000429791:E185K;ENSP00000428610:E185K;ENSP00000250173:E185K	ENSP00000250173:E185K	E	-	1	0	0	LRRC6	133714268	133714268	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	2.502000	0.45398	0.705000	0.31890	0.555000	0.69702	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	0	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-20.000000	1	0.170000	NM_012472			145	144		709	697	1		1	0		0	0	150	0		1	5.272226e-01	0	0	0	10	0	145	709
PHF20L1	51105	broad.mit.edu	37	8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	240							zinc ion binding (GO:0008270)			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)			AGTGAAACATTTGGTACAAAA	0.353																																						ENST00000395386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(718-720)tTt>tGt		PHD finger protein 20-like 1							84.0	70.0	75.0					8																	133816275		2203	4299	6502	SO:0001583	missense	51105	0	0					g.chr8:133816275T>G	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.719T>G	chr8.hg19:g.133816275T>G	ENSP00000378784:p.Phe240Cys	0					PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C	p.F240C	NM_016018.4	NP_057102.4	0	0	0	1.973482	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)	7	1018	+	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)		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	1	1	hg19	c.719T>G	CCDS6367.2	1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721680	0.68959	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.53423	0.77;0.8;0.76;1.39;0.76;0.82;0.62;1.4	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.355484	0.32836	N	0.005589	T	0.55257	0.1909	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.986	D;D;D;D;P	0.80764	0.976;0.919;0.994;0.965;0.794	T	0.54906	-0.8223	10	0.38643	T	0.18	-2.061	14.6865	0.69052	0.0:0.0:0.0:1.0	.	214;79;240;240;214	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	244;240;214;240;240;214;244;110;214;79	ENSP00000378781:F244C;ENSP00000378777:F240C;ENSP00000355301:F214C;ENSP00000378784:F240C;ENSP00000324519:F240C;ENSP00000338269:F214C;ENSP00000378775:F244C;ENSP00000378788:F214C	ENSP00000324519:F240C	F	+	2	0	0	PHF20L1	133885457	133885457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.182000	0.58310	2.073000	0.62155	0.477000	0.44152	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_016018			41	41		178	173	1		1	1		0	0	38	0		1	9.966288e-01	0	7	0	34	0	41	178
PHF20L1	51105	broad.mit.edu	37	8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	374							zinc ion binding (GO:0008270)			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)			TCCCCAGAATTAATACAAGTC	0.368																																						ENST00000395386.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1120-1122)tTa>tGa		PHD finger protein 20-like 1							116.0	112.0	113.0					8																	133827072		2203	4299	6502	SO:0001587	stop_gained	51105	0	0					g.chr8:133827072T>G	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.1121T>G	chr8.hg19:g.133827072T>G	ENSP00000378784:p.Leu374*	0					PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*	p.L374*	NM_016018.4	NP_057102.4	0	0	0	1.973482	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)	10	1420	+	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)		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	0	1	hg19	c.1121T>G	CCDS6367.2	1	.	.	.	.	.	.	.	.	.	.	T	38	6.924387	0.97940	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.840981	0.10934	N	0.618005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9413	15.6508	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	X	378;349;374;374;244;349	.	ENSP00000324519:L374X	L	+	2	0	0	PHF20L1	133896254	133896254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	1	0	1		2	2	2	0		0	0	119		119	118	1	2.060000	-20.000000	1	0.170000	NM_016018			92	89		446	439	0		1	1		0	0	119	0		1	9.984935e-01	0	3	0	46	0	92	446
TG	7038	broad.mit.edu	37	8	133919108	133919108	+	Silent	SNP	C	C	A	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1270					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)				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)		AGAGCGGACGCTGGGAGTCAC	0.642																																						ENST00000220616.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999960	0.990000	1.000000																										0				168						c.(3808-3810)cgC>cgA		thyroglobulin							33.0	28.0	30.0					8																	133919108		2203	4300	6503	SO:0001819	synonymous_variant	7038	0	0					g.chr8:133919108C>A	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.3810C>A	chr8.hg19:g.133919108C>A		0					TG_ENST00000377869.1_Silent_p.R1270R	p.R1270R	NM_003235.4	NP_003226.4	0	0	0	1.973482	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	17	3850	+	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)	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	1	1	hg19	c.3810C>A	CCDS34944.1	1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.42	3.47	0.39725	5.42	3.47	0.39725	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52968	-0.8504	4	.	.	.	.	8.0575	0.30614	0.1816:0.6431:0.1753:0.0	rs61747463	.	.	.	D	214	.	.	A	+	2	0	0	TG	133988290	133988290	0.180000	0.23148	0.857000	0.33713	0.795000	0.44927	0.416000	0.21198	1.241000	0.43820	0.609000	0.83330	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_003235			25	23		112	109	1		1			0	0	24	0		9.999999e-01	0	0	0	0	0	0	25	112
TG	7038	broad.mit.edu	37	8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000542445.1_Missense_Mutation_p.I279T|TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1909					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)				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)		CTCGCAGAGATAACAGAGAGT	0.502																																						ENST00000220616.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				168						c.(5725-5727)aTa>aCa		thyroglobulin							84.0	67.0	73.0					8																	133980078		2203	4300	6503	SO:0001583	missense	7038	0	0					g.chr8:133980078T>C	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.5726T>C	chr8.hg19:g.133980078T>C	ENSP00000220616:p.Ile1909Thr	0					TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000542445.1_Missense_Mutation_p.I279T	p.I1909T	NM_003235.4	NP_003226.4	0	0	0	1.973482	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	31	5766	+	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)	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	1	1	hg19	c.5726T>C	CCDS34944.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.346|8.346	0.829904|0.829904	0.16749|0.16749	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000518058	T;T;T;T|.	0.70749|.	-0.29;-0.3;-0.5;-0.51|.	5.77|5.77	4.55|4.55	0.56014|0.56014	5.77|5.77	4.55|4.55	0.56014|0.56014	.|.	0.806159|.	0.11516|.	N|.	0.556198|.	T|.	0.56001|.	0.1956|.	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;P;P|.	0.37276|.	0.363;0.589;0.514|.	B;B;B|.	0.33392|.	0.039;0.163;0.122|.	T|.	0.50250|.	-0.8850|.	10|.	0.87932|.	D|.	0|.	.|.	10.3|10.3	0.43646|0.43646	0.0:0.0:0.1644:0.8356|0.0:0.0:0.1644:0.8356	.|.	63;279;1909|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|Q	1852;715;1909;279;63|41	ENSP00000367100:I1852T;ENSP00000220616:I1909T;ENSP00000441693:I279T;ENSP00000430430:I63T|.	ENSP00000220616:I1909T|.	I|X	+|+	2|1	0|0	0|0	TG|TG	134049260|134049260	134049260|134049260	0.417000|0.417000	0.25432|0.25432	0.027000|0.027000	0.17364|0.17364	0.052000|0.052000	0.14988|0.14988	5.197000|5.197000	0.65141|0.65141	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_003235			33	32		133	130	1		1	0		0	0	50	0		1	0	0	0	0	1	0	33	133
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000542445.1_Missense_Mutation_p.V522M|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000377869.1_Missense_Mutation_p.V2095M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					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.V2152L(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)		ACCTGGGGCTGTGAGATGTAT	0.517																																						ENST00000220616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V2152L(1)	lung(1)	168						c.(6454-6456)Gtg>Atg		thyroglobulin							131.0	113.0	119.0					8																	134025901		2203	4300	6503	SO:0001583	missense	7038	0	0					g.chr8:134025901G>A	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.6454G>A	chr8.hg19:g.134025901G>A	ENSP00000220616:p.Val2152Met	0					TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.V522M	p.V2152M	NM_003235.4	NP_003226.4	0	0	0	1.973482	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	37	6494	+	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)	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	1	1	hg19	c.6454G>A	CCDS34944.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822879|0.822879	0.16678|0.16678	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70164	.|-0.25;-0.27;-0.46;-0.44	5.18|5.18	2.39|2.39	0.29439|0.29439	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22414	.|0.042;0.069;0.042	.|B;B;B	.|0.24701	.|0.028;0.055;0.046	T|T	0.52609|0.52609	-0.8553|-0.8553	5|10	.|0.62326	.|D	.|0.03	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	607|2095;958;2152;522;285	.|ENSP00000367100:V2095M;ENSP00000220616:V2152M;ENSP00000441693:V522M;ENSP00000430430:V285M	.|ENSP00000220616:V2152M	C|V	+|+	2|1	0|0	0|0	TG|TG	134095083|134095083	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_003235			74	72		288	274	1		1	0		0	0	75	0		1	4.290230e-02	0	0	0	2	0	74	288
SLA	6503	broad.mit.edu	37	8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000338087.5	-	6	1123	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|SLA_ENST00000518565.1_5'Flank|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000524345.1_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			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)			ACCTTTGTGTCTGGCAGCTGC	0.572																																						ENST00000338087.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999408	0.990000	1.000000																										0				17						c.(304-306)Gac>Aac		Src-like-adaptor							66.0	66.0	66.0					8																	134060123		2203	4300	6503	SO:0001583	missense	6503	0	0					g.chr8:134060123C>T		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.304G>A	chr8.hg19:g.134060123C>T	ENSP00000337548:p.Asp102Asn	0					SLA_ENST00000395352.3_Missense_Mutation_p.D119N|SLA_ENST00000524345.1_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000518565.1_5'Flank|TG_ENST00000542445.1_Intron	p.D102N	NM_001045556.2	NP_001039021.1	0	0	0	1.973482	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	6	1123	-	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)	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	1	1	hg19	c.304G>A	CCDS6370.1	1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828569	0.50845	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	T;T;T;D;D	0.92348	1.57;1.57;1.57;-3.02;-3.02	5.6	5.6	0.85130	5.6	5.6	0.85130	SH2 motif (4);	0.181413	0.64402	D	0.000017	T	0.82226	0.4991	N	0.02865	-0.47	0.51233	D	0.99991	B;B;B;B;B	0.18461	0.028;0.004;0.004;0.0;0.004	B;B;B;B;B	0.19391	0.025;0.01;0.01;0.002;0.01	T	0.76926	-0.2778	10	0.25751	T	0.34	-43.0063	17.4647	0.87629	0.0:1.0:0.0:0.0	.	119;102;102;102;102	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	N	102;142;119;119;102	ENSP00000337548:D102N;ENSP00000394049:D142N;ENSP00000378759:D119N;ENSP00000428559:D119N;ENSP00000430596:D102N	ENSP00000337548:D102N	D	-	1	0	0	SLA	134129305	134129305	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	2.793000	0.96121	0.563000	0.77884	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-3.142832	1	0.170000				39	39		273	269	1		1	0		0	0	61	0		1	1	0	0	0	192	0	39	273
TG	7038	broad.mit.edu	37	8	134144149	134144149	+	Silent	SNP	G	G	A	rs367550488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000542445.1_Silent_p.S1022S|TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000377869.1_Silent_p.S2595S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2652					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.S2652S(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)		AGAGCCTGTCGCTGAAAATCA	0.507																																						ENST00000220616.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S2652S(1)	pancreas(1)	168						c.(7954-7956)tcG>tcA		thyroglobulin		G		0,4406		0,0,2203	119.0	119.0	119.0		7956	-10.6	0.0	8		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2652/2769	134144149	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038	7	121412	42				g.chr8:134144149G>A	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.7956G>A	chr8.hg19:g.134144149G>A		0					TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000542445.1_Silent_p.S1022S	p.S2652S	NM_003235.4	NP_003226.4	0	0	0	1.973482	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	46	7996	+	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)	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	1	1	hg19	c.7956G>A	CCDS34944.1	1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182462	0.09495	0.0	2.33E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-10.6	0.00265	5.32	-10.6	0.00265	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.69011	-0.5258	4	.	.	.	.	0.5461	0.00654	0.2289:0.2851:0.2121:0.2739	.	.	.	.	T	1108	.	.	A	+	1	0	0	TG	134213331	134213331	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-5.450000	0.00121	-7.265000	0.00001	-1.671000	0.00744	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_003235			76	74		360	349	1		1	0		0	0	84	0		1	3.123537e-02	0	0	0	2	0	76	360
ST3GAL1	6482	broad.mit.edu	37	8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	176					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTTCAAACCCTGCCGTGGGC	0.577																																						ENST00000319914.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(526-528)Ggg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							140.0	131.0	134.0					8																	134477178		2203	4300	6503	SO:0001583	missense	6482	0	0					g.chr8:134477178C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.526G>T	chr8.hg19:g.134477178C>A	ENSP00000318445:p.Gly176Trp	0					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W	p.G176W			0	0	0	1.973482	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)	6	1553	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	1	1	hg19	c.526G>T	CCDS6373.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956753	0.73902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.049817	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90922	3.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.1328	12.7902	0.57528	0.0:0.8355:0.1645:0.0	.	176	Q11201	SIA4A_HUMAN	W	176;176;176;176;46;46	ENSP00000318445:G176W;ENSP00000414073:G176W;ENSP00000428540:G176W;ENSP00000430515:G176W;ENSP00000429638:G46W;ENSP00000427720:G46W	ENSP00000318445:G176W	G	-	1	0	0	ST3GAL1	134546360	134546360	1.000000	0.71417	0.738000	0.30950	0.864000	0.49448	5.833000	0.69349	2.235000	0.73313	0.511000	0.50034	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	1	0	1		2	2	2	0		0	0	156		156	154	1	2.060000	-2.857381	1	0.170000	NM_003033			153	152		719	708	1		1	1		0	0	156	0		1	1	0	55	0	108	0	153	719
ST3GAL1	6482	broad.mit.edu	37	8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A	rs199925387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCAGCCCACCGACCTCTTCTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0					ENST00000319914.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(406-408)tCg>tTg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80.0	79.0	79.0					8																	134478233		2203	4300	6503	SO:0001583	missense	6482	38	121412	48				g.chr8:134478233G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.407C>T	chr8.hg19:g.134478233G>A	ENSP00000318445:p.Ser136Leu	0					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L	p.S136L			0	0	0	1.973482	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)	5	1434	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	1	1	hg19	c.407C>T	CCDS6373.1	1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.549021	0.13312	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.30714	2.16;2.16;2.16;2.16;1.52;1.52	4.7	1.27	0.21489	4.7	1.27	0.21489	.	0.299822	0.36409	N	0.002613	T	0.12774	0.0310	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.34782	T	0.22	-17.8018	8.7121	0.34389	0.2966:0.0:0.7034:0.0	.	136	Q11201	SIA4A_HUMAN	L	136;136;136;136;6;6	ENSP00000318445:S136L;ENSP00000414073:S136L;ENSP00000428540:S136L;ENSP00000430515:S136L;ENSP00000429638:S6L;ENSP00000427720:S6L	ENSP00000318445:S136L	S	-	2	0	0	ST3GAL1	134547415	134547415	0.001000	0.12720	0.022000	0.16811	0.379000	0.30106	0.974000	0.29436	0.010000	0.14839	-0.254000	0.11334	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.318794	1	0.170000	NM_003033			77	74		336	333	1		1	1		0	0	80	0		1	1	0	46	0	100	0	77	336
ZFAT	57623	broad.mit.edu	37	8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T	rs201380546		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000377838.3	-	6	1990	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	606					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.A606T(1)|p.A594T(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)			TGAGCCTCTGCGGAGGAGGTA	0.532																																						ENST00000377838.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.A606T(1)|p.A594T(1)	lung(2)	54						c.(1816-1818)Gca>Aca		zinc finger and AT hook domain containing							55.0	57.0	56.0					8																	135614146		1980	4178	6158	SO:0001583	missense	57623	38	120902	46				g.chr8:135614146C>T	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.1816G>A	chr8.hg19:g.135614146C>T	ENSP00000367069:p.Ala606Thr	0					ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520727.1_Missense_Mutation_p.A594T	p.A606T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	0	0	0	1.973482	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)	6	1990	-	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)		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	1	1	hg19	c.1816G>A	CCDS47924.1	1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.514163	0.00975	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10005	2.99;2.92;2.92;2.92;2.92;2.94	5.25	-6.7	0.01766	5.25	-6.7	0.01766	.	1.892650	0.02219	N	0.063857	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.04;0.01;0.003;0.001	B;B;B;B	0.12837	0.008;0.004;0.002;0.001	T	0.25813	-1.0121	10	0.44086	T	0.13	-0.0204	1.9495	0.03364	0.1549:0.2715:0.1635:0.4101	.	544;594;594;606	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	594;594;594;606;594;493;544;594	ENSP00000427879:A594T;ENSP00000427831:A594T;ENSP00000394501:A594T;ENSP00000367069:A606T;ENSP00000428483:A594T;ENSP00000429091:A544T	ENSP00000326997:A493T	A	-	1	0	0	ZFAT	135683328	135683328	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.674000	0.05233	-1.512000	0.01791	-1.332000	0.01269	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_001029939			71	70		262	260	1		1	1		0	0	64	0		1	9.019654e-01	0	6	0	11	0	71	262
ZFAT	57623	broad.mit.edu	37	8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000377838.3	-	6	1698	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	508					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)			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)			GAGCTTCTTGCTGGATGTCCC	0.602																																						ENST00000377838.3	1.000000	0.650000	1	8.500000e-01	0.990000	0.948499	0.990000	1.000000																										0				54						c.(1522-1524)caG>caT		zinc finger and AT hook domain containing							22.0	24.0	23.0					8																	135614438		1891	4113	6004	SO:0001583	missense	57623	0	0					g.chr8:135614438C>A	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.1524G>T	chr8.hg19:g.135614438C>A	ENSP00000367069:p.Gln508His	0					ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520727.1_Missense_Mutation_p.Q496H	p.Q508H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	0	0	0	1.973482	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)	6	1698	-	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)		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	1	1	hg19	c.1524G>T	CCDS47924.1	1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678896	0.29783	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.85;2.78;2.78;2.77;2.78;2.82	6.04	3.28	0.37604	6.04	3.28	0.37604	.	0.183522	0.39146	N	0.001442	T	0.08714	0.0216	L	0.32530	0.975	0.46011	D	0.99881	B;B;B;B	0.16166	0.011;0.011;0.016;0.004	B;B;B;B	0.19666	0.01;0.009;0.026;0.003	T	0.15435	-1.0437	10	0.41790	T	0.15	-19.2128	8.868	0.35298	0.0:0.726:0.1347:0.1394	.	446;496;496;508	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	496;496;496;508;496;446;496	ENSP00000427879:Q496H;ENSP00000427831:Q496H;ENSP00000394501:Q496H;ENSP00000367069:Q508H;ENSP00000428483:Q496H;ENSP00000429091:Q446H	ENSP00000367069:Q508H	Q	-	3	2	2	ZFAT	135683620	135683620	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.892000	0.36259	0.563000	0.77884	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-19.989730	1	0.170000	NM_001029939			15	15		143	142	0		1	0		0	0	33	0		9.998933e-01	1.895181e-01	0	0	0	8	0	15	143
ZFAT	57623	broad.mit.edu	37	8	135615146	135615146	+	Silent	SNP	A	A	C	rs577530195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000377838.3	-	6	990	c.816T>G	c.(814-816)acT>acG	p.T272T	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.T260T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	272					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)			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)			AGTATTCACAAGTGAAGATTT	0.478																																						ENST00000377838.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(814-816)acT>acG		zinc finger and AT hook domain containing							97.0	97.0	97.0					8																	135615146		1983	4163	6146	SO:0001819	synonymous_variant	57623	0	0					g.chr8:135615146A>C	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.816T>G	chr8.hg19:g.135615146A>C		0					ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.T210T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000520727.1_Silent_p.T260T	p.T272T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	0	0	0	1.973482	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)	6	990	-	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)		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	1	1	hg19	c.816T>G	CCDS47924.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_001029939			83	83		324	322	1		1	1		0	0	99	0		1	6.372057e-01	0	2	0	8	0	83	324
COL22A1	169044	broad.mit.edu	37	8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139697494G>T	ENST00000303045.6	-	38	3370	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Collagen-like 8.|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)				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)			AGGGAGCCCAGGAGCACCAGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6	0.430000	0.120000	3.400000e-01	1.700000e-01	0.240000	0.262809	0.240000	0.240000																										0				211						c.(2923-2925)cCt>cAt		collagen, type XXII, alpha 1							44.0	45.0	45.0					8																	139697494		2203	4300	6503	SO:0001583	missense	169044	0	0					g.chr8:139697494G>T	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.2924C>A	chr8.hg19:g.139697494G>T	ENSP00000303153:p.Pro975His	0	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H	p.P975H	NM_152888.1	NP_690848.1	0	0	0	1.973482	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	38	3370	-	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)		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	0	1	hg19	c.2924C>A	CCDS6376.1	0	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892228	0.17613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97772	-4.53;-4.53	4.42	4.42	0.53409	4.42	4.42	0.53409	.	0.000000	0.46758	U	0.000265	D	0.99026	0.9667	H	0.95917	3.74	0.20403	N	0.9999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95101	0.8230	10	0.62326	D	0.03	.	12.455	0.55700	0.0:0.0:1.0:0.0	.	975;975	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	975;975;688	ENSP00000303153:P975H;ENSP00000387655:P975H	ENSP00000303153:P975H	P	-	2	0	0	COL22A1	139766676	139766676	0.945000	0.32115	0.072000	0.20136	0.005000	0.04900	3.183000	0.50918	2.308000	0.77769	0.442000	0.29010	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-7.987277	1	0.170000	XM_291257			9	9		426	420	0		1	0		0	0	88	0		9.939515e-01	1.692665e-03	0	0	0	3	0	9	426
COL22A1	169044	broad.mit.edu	37	8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A	rs200627175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	695	Collagen-like 4.|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)				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)			TTACTTACTCGGAGACCTTGC	0.448										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0	0.0	5008	,	,		22233	0.0		0.001	False		,,,				2504	0.0					ENST00000303045.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				211						c.(2083-2085)Cga>Tga		collagen, type XXII, alpha 1		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	113.0	113.0		2083	4.7	1.0	8		113	0,8600		0,0,4300	no	stop-gained	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		695/1627	139763703	1,13005	2203	4300	6503	SO:0001587	stop_gained	169044	1	121412	35				g.chr8:139763703G>A	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.2083C>T	chr8.hg19:g.139763703G>A	ENSP00000303153:p.Arg695*	0	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	p.R695*	NM_152888.1	NP_690848.1	0	0	0	1.973482	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	22	2529	-	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)		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	0	1	hg19	c.2083C>T	CCDS6376.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	44	11.243823	0.99536	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.168727	0.26457	N	0.024262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3916	0.60827	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;408	.	ENSP00000303153:R695X	R	-	1	2	2	COL22A1	139832885	139832885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.640000	0.89533	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-2.631394	1	0.170000	XM_291257			33	32		175	171	1		1	0		0	0	51	0		1	2.528243e-01	0	0	0	6	0	33	175
COL22A1	169044	broad.mit.edu	37	8	139825183	139825183	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	COL22A1_ENST00000435777.1_Splice_Site_p.P442L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	442					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P442R(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)			TCTGCTCACCGGACCCGAGGG	0.537										HNSCC(7;0.00092)																												ENST00000303045.6	0.590000	0.150000	4.600000e-01	2.300000e-01	0.330000	0.354211	0.330000	0.320000																										1	Substitution - Missense(1)	p.P442R(1)	upper_aerodigestive_tract(1)	211						c.(1324-1326)cCg>cTg		collagen, type XXII, alpha 1							131.0	107.0	115.0					8																	139825183		2203	4300	6503	SO:0001630	splice_region_variant	169044	0	0					g.chr8:139825183G>A	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.1326+1C>T	chr8.hg19:g.139825183G>A		0	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site_p.P442L	p.P442L	NM_152888.1	NP_690848.1	0	0	0	1.973482	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	8	1771	-	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)		B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	0	1	hg19	c.1325C>T	CCDS6376.1	0	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980324	0.53827	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.34	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.000000	0.42548	U	0.000687	T	0.76772	0.4034	N	0.17474	0.49	0.58432	D	0.999998	P	0.42375	0.778	B	0.29785	0.107	T	0.77915	-0.2409	9	.	.	.	.	14.8862	0.70570	0.0:0.0:1.0:0.0	.	442	Q8NFW1	COMA1_HUMAN	L	442	ENSP00000303153:P442L;ENSP00000387655:P442L	.	P	-	2	0	0	COL22A1	139894365	139894365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.370000	0.79589	2.203000	0.70933	0.460000	0.39030	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-3.017596	1	0.170000	XM_291257	Missense_Mutation		8	6		280	273	0		1	0		0	0	67	0		9.882050e-01	1.446245e-02	0	0	0	6	0	8	280
COL22A1	169044	broad.mit.edu	37	8	139890402	139890402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	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)				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)			TGGGCCGGTCGCTGTAGCGCA	0.677										HNSCC(7;0.00092)																												ENST00000303045.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998966	0.990000	1.000000																										0				211						c.(247-249)agC>agT		collagen, type XXII, alpha 1							15.0	18.0	17.0					8																	139890402		2200	4292	6492	SO:0001819	synonymous_variant	169044	1	121044	28				g.chr8:139890402G>A	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.249C>T	chr8.hg19:g.139890402G>A		0	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.S83S	p.S83S	NM_152888.1	NP_690848.1	0	0	0	1.973482	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	3	695	-	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)		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	0	1	hg19	c.249C>T	CCDS6376.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.999960	1	0.170000	XM_291257			13	12		54	54	1		1	0		0	0	11	0		9.996863e-01	4.347826e-02	0	0	0	2	0	13	54
KCNK9	51305	broad.mit.edu	37	8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	87					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)			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)	GACCGTGATCGCAAAGTAGAA	0.701																																						ENST00000520439.1	1.000000	0.240000	8.100000e-01	3.800000e-01	0.560000	0.594054	0.560000	1.000000																										0				43						c.(259-261)gCg>gTg		potassium channel, subfamily K, member 9	Doxapram(DB00561)|Halothane(DB01159)						33.0	34.0	34.0					8																	140714976		2202	4299	6501	SO:0001583	missense	51305	0	0					g.chr8:140714976G>A	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.260C>T	chr8.hg19:g.140714976G>A	ENSP00000430676:p.Ala87Val	0					KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	p.A87V	NM_001282534.1	NP_001269463.1	0	0	0	1.973482	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)	1	323	-	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)	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	0	1	hg19	c.260C>T	CCDS6377.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.164005	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28454	1.61;1.61;1.61	3.87	3.87	0.44632	3.87	3.87	0.44632	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.48259	0.1490	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.54200	-0.8329	10	0.46703	T	0.11	.	15.1508	0.72696	0.0:0.0:1.0:0.0	.	87	Q9NPC2	KCNK9_HUMAN	V	87	ENSP00000429847:A87V;ENSP00000302166:A87V;ENSP00000430676:A87V	ENSP00000302166:A87V	A	-	2	0	0	KCNK9	140784158	140784158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.704000	0.91351	1.839000	0.53478	0.555000	0.69702	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	1	0	0		2	2	2	0		0	0	14		14	13	1	2.060000	-9.084912	1	0.170000	NM_016601			6	6		122	119	0		1			0	0	14	0		9.635341e-01	0	0	0	0	0	0	6	122
KCNK9	51305	broad.mit.edu	37	8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	84					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)			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)	TCGCAAAGTAGAAGGAGCCGG	0.677																																						ENST00000520439.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.997722	0.990000	1.000000																										0				43						c.(250-252)ttC>ttA		potassium channel, subfamily K, member 9	Doxapram(DB00561)|Halothane(DB01159)						38.0	39.0	38.0					8																	140714984		2203	4300	6503	SO:0001583	missense	51305	0	0					g.chr8:140714984G>T	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.252C>A	chr8.hg19:g.140714984G>T	ENSP00000430676:p.Phe84Leu	0					KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	p.F84L	NM_001282534.1	NP_001269463.1	0	0	0	1.973482	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)	1	315	-	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)	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	0	1	hg19	c.252C>A	CCDS6377.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909430	0.72868	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26067	1.76;1.76;1.76	3.87	2.99	0.34606	3.87	2.99	0.34606	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28344	0.845	0.58432	D	0.999993	P	0.44195	0.828	P	0.50934	0.654	T	0.01884	-1.1254	10	0.42905	T	0.14	.	7.3744	0.26821	0.2046:0.0:0.7954:0.0	.	84	Q9NPC2	KCNK9_HUMAN	L	84	ENSP00000429847:F84L;ENSP00000302166:F84L;ENSP00000430676:F84L	ENSP00000302166:F84L	F	-	3	2	2	KCNK9	140784166	140784166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.417000	0.59822	0.716000	0.32124	0.555000	0.69702	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	1	0	0		2	2	2	0		0	0	17		17	15	1	2.060000	-20.000000	1	0.170000	NM_016601			19	18		118	116	0		1			0	0	17	0		9.999928e-01	0	0	0	0	0	0	19	118
TRAPPC9	83696	broad.mit.edu	37	8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000438773.2	-	8	1452	c.1319G>T	c.(1318-1320)aGt>aTt	p.S440I	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S538I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	440					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				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						CAGCGACAGACTGTAGCCGGG	0.597																																						ENST00000438773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1318-1320)aGt>aTt		trafficking protein particle complex 9							81.0	81.0	81.0					8																	141381095		2203	4300	6503	SO:0001583	missense	83696	0	0					g.chr8:141381095C>A	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.1319G>T	chr8.hg19:g.141381095C>A	ENSP00000405060:p.Ser440Ile	0					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S538I	p.S440I	NM_001160372.1	NP_001153844.1	0	0	0	1.973482	Q96Q05	TPPC9_HUMAN		8	1452	-			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	1	1	hg19	c.1319G>T	CCDS55278.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150767|4.150767	0.78001|0.78001	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.5|5.5	4.62|4.62	0.57501|0.57501	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	.|0.077470	.|0.85682	.|D	.|0.000000	T|T	0.64148|0.64148	0.2572|0.2572	L|L	0.34521|0.34521	1.04|1.04	0.48087|0.48087	D|D	0.999587|0.999587	.|D;P;D	.|0.71674	.|0.998;0.887;0.996	.|D;P;P	.|0.65773	.|0.938;0.668;0.878	T|T	0.64947|0.64947	-0.6287|-0.6287	5|9	.|0.46703	.|T	.|0.11	.|.	14.0622|14.0622	0.64806|0.64806	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	.|440;431;538	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|I	283|538;431;440	.|.	.|ENSP00000373978:S431I	Q|S	-|-	3|2	2|0	2|0	TRAPPC9|TRAPPC9	141450277|141450277	141450277|141450277	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.731000|0.731000	0.41821|0.41821	7.433000|7.433000	0.80362|0.80362	1.310000|1.310000	0.45006|0.45006	0.455000|0.455000	0.32223|0.32223	CAG|AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	1	0	1		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000	NM_031466			95	95		431	427	1		1	1		0	0	106	0		1	9.975138e-01	0	8	0	35	0	95	431
TRAPPC9	83696	broad.mit.edu	37	8	141461131	141461131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000438773.2	-	2	475	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TRAPPC9_ENST00000389328.4_Silent_p.R212R|TRAPPC9_ENST00000389327.3_Silent_p.R114R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				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						AGACAAAGAGCCGGGAGTCAT	0.582																																						ENST00000438773.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(340-342)cgG>cgA		trafficking protein particle complex 9							69.0	64.0	66.0					8																	141461131		2203	4300	6503	SO:0001819	synonymous_variant	83696	0	0					g.chr8:141461131C>T	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.342G>A	chr8.hg19:g.141461131C>T		0					TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000389328.4_Silent_p.R212R	p.R114R	NM_001160372.1	NP_001153844.1	0	0	0	1.973482	Q96Q05	TPPC9_HUMAN		2	475	-			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	1	1	hg19	c.342G>A	CCDS55278.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_031466			67	67		276	276	1		1	1		0	0	78	0		1	9.796481e-01	0	7	0	21	0	67	276
CHRAC1	54108	broad.mit.edu	37	8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	53					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353																																						ENST00000220913.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				2						c.(157-159)gTt>gGt		chromatin accessibility complex 1							56.0	51.0	53.0					8																	141524478		2203	4300	6503	SO:0001583	missense	54108	0	0					g.chr8:141524478T>G	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.158T>G	chr8.hg19:g.141524478T>G	ENSP00000220913:p.Val53Gly	0					CHRAC1_ENST00000519533.1_Intron	p.V53G	NM_017444.5	NP_059140.1	0	0	0	1.973482	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)	2	360	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)			Missense_Mutation	SNP	ENST00000220913.5	1	1	hg19	c.158T>G	CCDS6379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.236441|4.236441	0.79800|0.79800	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000519618|ENST00000220913;ENST00000518971	.|T;T	.|0.52057	.|0.78;0.68	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.82564|0.82564	-0.0394|-0.0394	5|10	.|0.87932	.|D	.|0	-13.1144|-13.1144	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53	.|Q9NRG0	.|CHRC1_HUMAN	V|G	19|53;40	.|ENSP00000220913:V53G;ENSP00000430484:V40G	.|ENSP00000220913:V53G	F|V	+|+	1|2	0|0	0|0	CHRAC1|CHRAC1	141593660|141593660	141593660|141593660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	6.923000|6.923000	0.75817|0.75817	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	TTC|GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.890610	1	0.170000	NM_017444			37	36		183	177	1		1	1		0	0	41	0		1	1	0	57	0	101	0	37	183
PTK2	5747	broad.mit.edu	37	8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	385					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512																																						ENST00000522684.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1153-1155)cGg>cAg		protein tyrosine kinase 2							249.0	227.0	235.0					8																	141799596		2203	4300	6503	SO:0001583	missense	5747	0	0					g.chr8:141799596C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1154G>A	chr8.hg19:g.141799596C>T	ENSP00000429911:p.Arg385Gln	0					PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q	p.R385Q	NM_153831.3	NP_722560.1	0	0	0	1.973482	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)	14	1383	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	1	1	hg19	c.1154G>A	CCDS6381.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435814	0.83885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.76578	-1.01;-0.98;-1.03;-1.01;-0.99;-0.94;-0.99;-0.95;-1.03;-1.0	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.50333	1.59	0.44309	D	0.997188	B;B;B;B;B;B;B;D	0.53619	0.181;0.373;0.11;0.336;0.222;0.074;0.055;0.961	B;B;B;B;B;B;B;P	0.48524	0.011;0.048;0.014;0.019;0.013;0.009;0.006;0.58	T	0.75260	-0.3380	10	0.32370	T	0.25	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	385;46;292;385;407;385;296;46	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	Q	385;385;429;385;295;385;292;46;50;385;46;429;49;203	ENSP00000429911:R385Q;ENSP00000438009:R385Q;ENSP00000429082:R429Q;ENSP00000429474:R385Q;ENSP00000378644:R385Q;ENSP00000428492:R50Q;ENSP00000341189:R385Q;ENSP00000445742:R46Q;ENSP00000429129:R429Q;ENSP00000430603:R49Q	ENSP00000341189:R385Q	R	-	2	0	0	PTK2	141868778	141868778	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	4.196000	0.58407	2.941000	0.99782	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	0	0		2	2	2	0		0	0	233		233	232	1	2.060000	-2.761066	1	0.170000	NM_005607			196	194		903	889	1		1	1		0	0	233	0		1	1	0	41	0	88	0	196	903
PTK2	5747	broad.mit.edu	37	8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T	rs538944133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552																																						ENST00000522684.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1135-1137)aGc>aAc		protein tyrosine kinase 2							222.0	199.0	207.0					8																	141799614		2203	4300	6503	SO:0001583	missense	5747	0	0					g.chr8:141799614C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1136G>A	chr8.hg19:g.141799614C>T	ENSP00000429911:p.Ser379Asn	0					PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N	p.S379N	NM_153831.3	NP_722560.1	0	0	0	1.973482	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)	14	1365	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	1	1	hg19	c.1136G>A	CCDS6381.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303527	0.23736	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.94;-0.95;-0.96;-0.95;-0.9;-0.95;-0.91;-0.95;-0.89	5.87	3.69	0.42338	5.87	3.69	0.42338	.	0.161248	0.64402	N	0.000002	T	0.49389	0.1554	N	0.11000	0.08	0.28552	N	0.911562	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.31586	-0.9938	10	0.16420	T	0.52	.	6.8538	0.24030	0.0:0.7674:0.0:0.2326	.	379;40;286;379;401;379;290;40	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	N	379;379;423;379;289;379;286;40;44;379;40;423;43;197	ENSP00000429911:S379N;ENSP00000438009:S379N;ENSP00000429082:S423N;ENSP00000429474:S379N;ENSP00000378644:S379N;ENSP00000428492:S44N;ENSP00000341189:S379N;ENSP00000445742:S40N;ENSP00000429129:S423N;ENSP00000430603:S43N	ENSP00000341189:S379N	S	-	2	0	0	PTK2	141868796	141868796	0.889000	0.30405	0.995000	0.50966	0.969000	0.65631	1.303000	0.33470	1.599000	0.50093	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	1	0	0		2	2	2	0		0	0	187		187	187	1	2.060000	-20.000000	1	0.170000	NM_005607			172	171		792	778	1		1	1		0	0	187	0		1	1	0	45	0	95	0	172	792
PTK2	5747	broad.mit.edu	37	8	141856698	141856698	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000517887.1_Splice_Site_p.R221Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323																																						ENST00000522684.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				48						c.(529-531)cGg>cAg		protein tyrosine kinase 2							106.0	99.0	102.0					8																	141856698		2203	4300	6503	SO:0001630	splice_region_variant	5747	0	0					g.chr8:141856698C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.530+1G>A	chr8.hg19:g.141856698C>T		0					PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q|PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q	p.R177Q	NM_153831.3	NP_722560.1	0	0	0	1.973482	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)	6	759	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	B4E2N6|F5H4S4|Q14291|Q9UD85	Splice_Site	SNP	ENST00000522684.1	1	0	hg19	c.530G>A	CCDS6381.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	5.35	5.35	0.76521	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.82193	2.58	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;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	0	PTK2	141925880	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	1	0	1		2	2	2	0		0	0	55		55	52	1	2.060000	-2.405271	0	0.170000	NM_005607	Missense_Mutation		39	38		237	230	1		1	1		0	0	55	0		1	9.999709e-01	0	12	0	87	0	39	237
DENND3	22898	broad.mit.edu	37	8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000262585.2	+	2	358	c.80A>C	c.(79-81)gAg>gCg	p.E27A	DENND3_ENST00000519811.1_Missense_Mutation_p.E107A|DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	27	UDENN.				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)			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)			AGAGCGCCAGAGCCTGAGGAT	0.667																																						ENST00000262585.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				55						c.(79-81)gAg>gCg		DENN/MADD domain containing 3							15.0	20.0	18.0					8																	142146825		2200	4297	6497	SO:0001583	missense	22898	0	0					g.chr8:142146825A>C	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.80A>C	chr8.hg19:g.142146825A>C	ENSP00000262585:p.Glu27Ala	0					DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000519811.1_Missense_Mutation_p.E107A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	p.E27A	NM_014957.2	NP_055772.2	0	0	0	1.973482	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)	2	358	+	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)		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	1	1	hg19	c.80A>C	CCDS34947.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.687|9.687	1.150839|1.150839	0.21371|0.21371	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T|.	0.40476|.	1.03;2.96;2.52;1.03;1.03;1.03|.	5.36|5.36	4.19|4.19	0.49359|0.49359	5.36|5.36	4.19|4.19	0.49359|0.49359	uDENN (1);|.	0.608859|.	0.17752|.	N|.	0.163199|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.38280|.	0.002;0.003;0.625;0.258|.	B;B;B;B|.	0.34931|.	0.002;0.006;0.192;0.098|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.21014|.	T|.	0.42|.	-0.9371|-0.9371	7.0187|7.0187	0.24902|0.24902	0.7747:0.1484:0.0768:0.0|0.7747:0.1484:0.0768:0.0	.|.	107;27;107;107|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	A|S	40;107;27;27;107;107;107|83	ENSP00000430695:E107A;ENSP00000262585:E27A;ENSP00000410594:E27A;ENSP00000428714:E107A;ENSP00000429780:E107A;ENSP00000430786:E107A|.	ENSP00000262585:E27A|.	E|R	+|+	2|3	0|2	0|2	DENND3|DENND3	142216007|142216007	142216007|142216007	0.764000|0.764000	0.28473|0.28473	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	1.801000|1.801000	0.38843|0.38843	0.857000|0.857000	0.35407|0.35407	0.528000|0.528000	0.53228|0.53228	GAG|AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_014957			21	20		77	76	1		1	1		0	0	12	0		9.999988e-01	9.903684e-01	0	4	0	27	0	21	77
DENND3	22898	broad.mit.edu	37	8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000262585.2	+	2	375	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	DENND3_ENST00000519811.1_Missense_Mutation_p.V113I|DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	33	UDENN.				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)			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)			GGATGTCGCCGTCCCGGGCGG	0.687																																						ENST00000262585.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				55						c.(97-99)Gtc>Atc		DENN/MADD domain containing 3							14.0	18.0	17.0					8																	142146842		2196	4290	6486	SO:0001583	missense	22898	1	120870	15				g.chr8:142146842G>A	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.97G>A	chr8.hg19:g.142146842G>A	ENSP00000262585:p.Val33Ile	0					DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000519811.1_Missense_Mutation_p.V113I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	p.V33I	NM_014957.2	NP_055772.2	0	0	0	1.973482	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)	2	375	+	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)		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	1	1	hg19	c.97G>A	CCDS34947.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.338|0.338	-0.952181|-0.952181	0.02285|0.02285	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61|5.61	-2.87|-2.87	0.05700|0.05700	5.61|5.61	-2.87|-2.87	0.05700|0.05700	.|uDENN (1);	.|0.737094	.|0.13752	.|N	.|0.365220	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B;B;B	.|0.26258	.|0.145;0.087;0.021;0.06	.|B;B;B;B	.|0.25614	.|0.062;0.034;0.013;0.009	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.11182	.|T	.|0.66	-2.4659|-2.4659	14.6426|14.6426	0.68737|0.68737	0.4152:0.0:0.5848:0.0|0.4152:0.0:0.5848:0.0	.|.	.|113;33;113;113	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	H|I	89|46;113;33;33;113;113;113	.|ENSP00000430625:V46I;ENSP00000430695:V113I;ENSP00000262585:V33I;ENSP00000410594:V33I;ENSP00000428714:V113I;ENSP00000429780:V113I;ENSP00000430786:V113I	.|ENSP00000262585:V33I	R|V	+|+	2|1	0|0	0|0	DENND3|DENND3	142216024|142216024	142216024|142216024	0.014000|0.014000	0.17966|0.17966	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	0.016000|0.016000	0.13377|0.13377	-0.790000|-0.790000	0.04492|0.04492	-0.806000|-0.806000	0.03193|0.03193	CGT|GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_014957			21	21		60	58	0		1	1		0	0	11	0		9.999990e-01	9.997443e-01	0	10	0	34	0	21	60
DENND3	22898	broad.mit.edu	37	8	142176355	142176355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000262585.2	+	12	1658	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	DENND3_ENST00000519811.1_Silent_p.S540S|DENND3_ENST00000424248.1_Silent_p.S408S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460					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)			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)			GGAAGTCCTCGCACCTGCATG	0.552																																						ENST00000262585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1378-1380)tcG>tcA		DENN/MADD domain containing 3							125.0	134.0	131.0					8																	142176355		2203	4300	6503	SO:0001819	synonymous_variant	22898	3	121412	36				g.chr8:142176355G>A	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.1380G>A	chr8.hg19:g.142176355G>A		0					DENND3_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000519811.1_Silent_p.S540S	p.S460S	NM_014957.2	NP_055772.2	0	0	0	1.973482	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)	12	1658	+	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)		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	1	1	hg19	c.1380G>A	CCDS34947.1	1	.	.	.	.	.	.	.	.	.	.	G	4.540	0.100272	0.08731	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.12	-5.67	0.02444	5.12	-5.67	0.02444	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-11.8227	2.3262	0.04223	0.4485:0.2889:0.1156:0.147	.	.	.	.	T	465	.	.	A	+	1	0	0	DENND3	142245537	142245537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-1.175000	0.02751	-1.020000	0.02445	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		15	2	2	0		0	1	223		223	222	1	2.060000	-3.076550	1	0.170000	NM_014957			153	149		788	775	1		1	1		0	0	223	0		1	9.999901e-01	0	10	0	74	0	153	788
DENND3	22898	broad.mit.edu	37	8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000262585.2	+	13	2166	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	DENND3_ENST00000519811.1_Missense_Mutation_p.E710K|DENND3_ENST00000424248.1_Missense_Mutation_p.E578K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	630					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)			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)			CAAGCCGCACGAGGCCTCGAA	0.612																																						ENST00000262585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1888-1890)Gag>Aag		DENN/MADD domain containing 3							68.0	68.0	68.0					8																	142178477		2203	4300	6503	SO:0001583	missense	22898	0	0					g.chr8:142178477G>A	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.1888G>A	chr8.hg19:g.142178477G>A	ENSP00000262585:p.Glu630Lys	0					DENND3_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000519811.1_Missense_Mutation_p.E710K	p.E630K	NM_014957.2	NP_055772.2	0	0	0	1.973482	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)	13	2166	+	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)		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	1	1	hg19	c.1888G>A	CCDS34947.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804188|2.804188	0.50315|0.50315	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15372|.	2.87;2.43;2.86|.	5.56|5.56	4.67|4.67	0.58626|0.58626	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.198521|.	0.52532|.	D|.	0.000074|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.62723|0.62723	1.935|1.935	0.50467|0.50467	D|D	0.999878|0.999878	D;D;D|.	0.58620|.	0.971;0.983;0.971|.	B;P;B|.	0.50082|.	0.426;0.63;0.426|.	T|T	0.70809|0.70809	-0.4771|-0.4771	10|5	0.48119|.	T|.	0.1|.	-14.1069|-14.1069	16.2841|16.2841	0.82710|0.82710	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	710;578;630|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	K|Q	630;578;710|634	ENSP00000262585:E630K;ENSP00000410594:E578K;ENSP00000428714:E710K|.	ENSP00000262585:E630K|.	E|R	+|+	1|2	0|0	0|0	DENND3|DENND3	142247659|142247659	142247659|142247659	1.000000|1.000000	0.71417|0.71417	0.099000|0.099000	0.21106|0.21106	0.030000|0.030000	0.12068|0.12068	6.746000|6.746000	0.74866|0.74866	1.312000|1.312000	0.45043|0.45043	0.462000|0.462000	0.41574|0.41574	GAG|CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	98		98	92	1	2.060000	-3.341494	1	0.170000	NM_014957			95	92		397	382	1		1	1		0	0	98	0		1	9.999987e-01	0	11	0	72	0	95	397
SLC45A4	57210	broad.mit.edu	37	8	142227289	142227289	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000024061.3	-	5	1784		c.e5-1		SLC45A4_ENST00000433583.2_Splice_Site|SLC45A4_ENST00000519067.1_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617																																						ENST00000024061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.e5-1		solute carrier family 45, member 4							39.0	41.0	40.0					8																	142227289		2203	4300	6503	SO:0001630	splice_region_variant	57210	0	0					g.chr8:142227289C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1477-1G>A	chr8.hg19:g.142227289C>T		0					SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000519067.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site		NM_001080431.1	NP_001073900.1	0	0	0	1.973482	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)	5	1784	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Q6ZRI2|Q9ULU3	Splice_Site	SNP	ENST00000024061.3	1	1	hg19		CCDS34948.1	1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564260	0.45694	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7099	0.91652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC45A4	142296471	142296471	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	7.494000	0.81503	2.420000	0.82092	0.491000	0.48974	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	XM_050325	Intron		62	61		249	246	1		1	1		0	0	64	0		1	9.963324e-01	0	34	0	3	0	62	249
SLC45A4	57210	broad.mit.edu	37	8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000024061.3	-	4	1539	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P|SLC45A4_ENST00000519067.1_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687																																						ENST00000024061.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1231-1233)cAg>cCg		solute carrier family 45, member 4							42.0	39.0	40.0					8																	142228354		2203	4296	6499	SO:0001583	missense	57210	0	0					g.chr8:142228354T>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1232A>C	chr8.hg19:g.142228354T>G	ENSP00000024061:p.Gln411Pro	0					SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000519067.1_Missense_Mutation_p.Q411P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	p.Q411P	NM_001080431.1	NP_001073900.1	0	0	0	1.973482	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)	4	1539	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	1	1	hg19	c.1232A>C	CCDS34948.1	1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173901	0.57692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.060918	0.64402	D	0.000003	D	0.89598	0.6761	L	0.49350	1.555	0.49798	D	0.999829	B;B;B	0.20368	0.044;0.015;0.034	B;B;B	0.18871	0.01;0.023;0.023	D	0.86337	0.1702	10	0.41790	T	0.15	-42.0846	15.378	0.74630	0.0:0.0:0.0:1.0	.	462;411;411	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	411;462;404;411	ENSP00000429059:Q411P;ENSP00000428137:Q462P;ENSP00000400799:Q404P;ENSP00000024061:Q411P	ENSP00000024061:Q411P	Q	-	2	0	0	SLC45A4	142297536	142297536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.538000	0.67193	2.051000	0.60960	0.459000	0.35465	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	XM_050325			52	51		252	248	1		1	1		0	0	60	0		1	9.193549e-01	0	10	0	13	0	52	252
SLC45A4	57210	broad.mit.edu	37	8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000024061.3	-	4	1512	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677																																						ENST00000024061.3	0.720000	0.250000	5.900000e-01	3.400000e-01	0.450000	0.471236	0.450000	0.440000																										0				31						c.(1204-1206)cGc>cAc		solute carrier family 45, member 4							46.0	44.0	45.0					8																	142228381		2203	4299	6502	SO:0001583	missense	57210	1	121184	32				g.chr8:142228381C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1205G>A	chr8.hg19:g.142228381C>T	ENSP00000024061:p.Arg402His	0					SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R402H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	p.R402H	NM_001080431.1	NP_001073900.1	0	0	0	1.973482	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)	4	1512	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	1	1	hg19	c.1205G>A	CCDS34948.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.103015	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.976	D	0.94106	0.7366	10	0.33940	T	0.23	-47.8602	19.116	0.93340	0.0:1.0:0.0:0.0	.	453;402;402	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	402;453;395;402	ENSP00000429059:R402H;ENSP00000428137:R453H;ENSP00000400799:R395H;ENSP00000024061:R402H	ENSP00000024061:R402H	R	-	2	0	0	SLC45A4	142297563	142297563	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.317000	0.59184	2.535000	0.85469	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	0	0	0		2	2	2	0		0	0	60		60	58	1	2.060000	-13.547580	1	0.170000	XM_050325			13	13		325	320	0		1	1		0	0	60	0		9.995121e-01	2.153362e-01	0	3	0	18	0	13	325
SLC45A4	57210	broad.mit.edu	37	8	142228404	142228404	+	Silent	SNP	G	G	A	rs574825748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228404G>A	ENST00000024061.3	-	4	1489	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	SLC45A4_ENST00000433583.2_Silent_p.A387A|SLC45A4_ENST00000519067.1_Silent_p.A394A|SLC45A4_ENST00000517878.1_Silent_p.A445A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGCACCACGGCGTTGGCGC	0.692													g|||	2	0.000399361	0.0	0.0	5008	,	,		15237	0.0		0.0	False		,,,				2504	0.002					ENST00000024061.3	0.550000	0.160000	4.400000e-01	2.300000e-01	0.320000	0.345281	0.320000	0.320000																										0				31						c.(1180-1182)gcC>gcT		solute carrier family 45, member 4							41.0	43.0	42.0					8																	142228404		2203	4297	6500	SO:0001819	synonymous_variant	57210	7	121148	40				g.chr8:142228404G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1182C>T	chr8.hg19:g.142228404G>A		0					SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000519067.1_Silent_p.A394A|SLC45A4_ENST00000433583.2_Silent_p.A387A	p.A394A	NM_001080431.1	NP_001073900.1	0	0	0	1.973482	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)	4	1489	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	0	1	hg19	c.1182C>T	CCDS34948.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	0	0	0		2	2	2	0		0	0	67		67	65	1	2.060000	-3.250807	1	0.170000	XM_050325			10	10		353	342	0		1	1		0	0	67	0		9.964704e-01	1.344678e-01	0	3	0	18	0	10	353
SLC45A4	57210	broad.mit.edu	37	8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T	rs371771709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000024061.3	-	4	1166	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672																																						ENST00000024061.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				31						c.(859-861)Gcc>Acc		solute carrier family 45, member 4		C	THR/ALA	0,4406		0,0,2203	45.0	48.0	47.0		859	1.3	1.0	8		47	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC45A4	NM_001080431.1	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	287/799	142228727	1,13003	2203	4299	6502	SO:0001583	missense	57210	3	121402	35				g.chr8:142228727C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.859G>A	chr8.hg19:g.142228727C>T	ENSP00000024061:p.Ala287Thr	0					SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A287T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	p.A287T	NM_001080431.1	NP_001073900.1	0	0	0	1.973482	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)	4	1166	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	1	1	hg19	c.859G>A	CCDS34948.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031900	0.35893	0.0	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15139	2.48;2.47;2.47;2.45	5.75	1.28	0.21552	5.75	1.28	0.21552	.	0.799963	0.11527	N	0.555059	T	0.10852	0.0265	L	0.47716	1.5	0.27514	N	0.951602	B;B;B	0.29037	0.024;0.231;0.01	B;B;B	0.14023	0.003;0.01;0.004	T	0.29822	-0.9999	10	0.17369	T	0.5	-17.9139	3.3128	0.07022	0.2097:0.5307:0.0963:0.1634	.	338;287;287	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	287;338;280;287	ENSP00000429059:A287T;ENSP00000428137:A338T;ENSP00000400799:A280T;ENSP00000024061:A287T	ENSP00000024061:A287T	A	-	1	0	0	SLC45A4	142297909	142297909	0.012000	0.17670	0.955000	0.39395	0.818000	0.46254	-0.201000	0.09464	0.663000	0.31027	0.555000	0.69702	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	XM_050325			73	72		464	455	1		1	1		0	0	78	0		1	9.968425e-01	0	13	0	44	0	73	464
BAI1	575	broad.mit.edu	37	8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657																																						ENST00000517894.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3139-3141)cGc>cAc		brain-specific angiogenesis inhibitor 1							30.0	40.0	36.0					8																	143603441		2200	4298	6498	SO:0001583	missense	575	1	121350	29				g.chr8:143603441G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3140G>A	chr8.hg19:g.143603441G>A	ENSP00000430945:p.Arg1047His	0					BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H	p.R1047H			0	0	0	1.973482	O14514	BAI1_HUMAN		21	4034	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)			Missense_Mutation	SNP	ENST00000517894.1	1	1	hg19	c.3140G>A		1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474454	0.84640	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	3.78	3.78	0.43462	.	0.162599	0.41938	U	0.000782	T	0.52354	0.1729	L	0.46567	1.45	0.46131	D	0.99888	P	0.48016	0.904	P	0.51974	0.686	T	0.53823	-0.8384	10	0.42905	T	0.14	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1047	E9PBK0	.	H	1047	ENSP00000430945:R1047H;ENSP00000313046:R1047H	ENSP00000313046:R1047H	R	+	2	0	0	BAI1	143600443	143600443	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.699000	0.84547	1.641000	0.50575	0.305000	0.20034	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_001702			62	62		170	166	1		1	0		0	0	32	0		1	7.270105e-02	0	0	0	2	0	62	170
BAI1	575	broad.mit.edu	37	8	143607953	143607953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1121					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657																																						ENST00000517894.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998148	0.990000	1.000000																										0				57						c.(3361-3363)gaC>gaT		brain-specific angiogenesis inhibitor 1							36.0	42.0	40.0					8																	143607953		1981	4154	6135	SO:0001819	synonymous_variant	575	2	120744	30				g.chr8:143607953C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3363C>T	chr8.hg19:g.143607953C>T		0					BAI1_ENST00000323289.5_Silent_p.D1121D	p.D1121D			0	0	0	1.973482	O14514	BAI1_HUMAN		24	4257	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)			Silent	SNP	ENST00000517894.1	1	1	hg19	c.3363C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-11.263340	1	0.170000	NM_001702			17	17		97	96	1		1	0		0	0	19	0		9.999767e-01	0	0	0	0	1	0	17	97
ARC	23237	broad.mit.edu	37	8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667																																						ENST00000356613.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(928-930)caG>caT		activity-regulated cytoskeleton-associated protein							57.0	55.0	56.0					8																	143694703		2203	4300	6503	SO:0001583	missense	23237	0	0					g.chr8:143694703C>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.930G>T	chr8.hg19:g.143694703C>A	ENSP00000349022:p.Gln310His	0					ARC_ENST00000581404.1_5'Flank	p.Q310H	NM_015193.4	NP_056008.1	0	0	0	1.973482	O60936	NOL3_HUMAN		1	2130	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	1	1	hg19	c.930G>T	CCDS34950.1	1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098156	0.37048	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.112617	0.38897	U	0.001539	T	0.18676	0.0448	N	0.12182	0.205	0.39006	D	0.959457	B	0.23650	0.089	B	0.26310	0.068	T	0.10268	-1.0637	10	0.29301	T	0.29	.	12.6204	0.56600	0.0:0.8332:0.1668:0.0	.	310	Q7LC44	ARC_HUMAN	H	310	ENSP00000349022:Q310H	ENSP00000349022:Q310H	Q	-	3	2	2	ARC	143691705	143691705	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.762000	0.38451	2.189000	0.69895	0.563000	0.77884	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	0	0	1		2	2	2	0		0	0	49		49	43	1	2.060000	-20.000000	1	0.170000				69	66		262	252	1		1	0		0	0	49	0		1	1.975400e-01	0	1	0	3	0	69	262
JRK	8629	broad.mit.edu	37	8	143747217	143747217	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	ENST00000507178.2	-	0	593							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggtccaggtgctccagcttgg	0.662																																						ENST00000507178.2	1.000000	0.370000	1	5.600000e-01	0.810000	0.795451	0.810000	1.000000																										0												Jrk homolog (mouse)							28.0	35.0	33.0					8																	143747217		2128	4234	6362			8629	0	0					g.chr8:143747217C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			chr8.hg19:g.143747217C>A		0									0	0	0	1.973482	O75564	JERKY_HUMAN		0	593	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)	O75565	RNA	SNP	ENST00000507178.2	0	1	hg19			0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	0	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-12.092000	1	0.170000	NM_003724			7	7		94	93	0		1	0		0	0	34	0		9.811946e-01	7.803105e-02	0	0	0	6	0	7	94
LY6K	54742	broad.mit.edu	37	8	143781978	143781978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000292430.6	+	1	450	c.33C>T	c.(31-33)gcC>gcT	p.A11A	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_Silent_p.A11A|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000518841.1_Silent_p.A11A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	11						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGTCGTGGCCCTACCGCGGG	0.701																																						ENST00000292430.6	1.000000	0.980000	1	9.900000e-01	0.990000	0.997128	0.990000	1.000000																										0				10						c.(31-33)gcC>gcT		lymphocyte antigen 6 complex, locus K							15.0	17.0	16.0					8																	143781978		2191	4290	6481	SO:0001819	synonymous_variant	54742	0	0					g.chr8:143781978C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.33C>T	chr8.hg19:g.143781978C>T		0					LY6K_ENST00000518841.1_Silent_p.A11A|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000522591.1_Silent_p.A11A	p.A11A			0	0	0	1.973482	Q17RY6	LY6K_HUMAN		1	450	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	1	1	hg19	c.33C>T	CCDS6385.2	1	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534679	0.13188	.	.	ENSG00000160886	ENST00000522591	.	.	.	1.81	0.905	0.19307	1.81	0.905	0.19307	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	4.1569	0.10265	0.0:0.7807:0.0:0.2193	.	.	.	.	L	30	.	.	P	+	2	0	0	LY6K	143778980	143778980	0.009000	0.17119	0.005000	0.12908	0.045000	0.14185	0.541000	0.23207	0.321000	0.23259	0.305000	0.20034	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.923770	1	0.170000	NM_017527			11	11		50	50	0		1			0	0	16	0		9.988594e-01	0	0	0	0	0	0	11	50
LYNX1	66004	broad.mit.edu	37	8	143857418	143857418	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143857418G>T	ENST00000335822.5	-	0	585				LYNX1_ENST00000398906.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame|LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000522906.1_Intron	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGTCAACAGCAGCTAGCCC	0.657																																						ENST00000335822.5	1.000000	0.950000	1	9.900000e-01	0.990000	0.996461	0.990000	1.000000																										0				4								Ly6/neurotoxin 1							63.0	44.0	51.0					8																	143857418		2203	4300	6503			66004	0	0					g.chr8:143857418G>T	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.-43C>A	chr8.hg19:g.143857418G>T		0					LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000522906.1_Intron|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000398906.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame		NM_023946.2	NP_076435.1	0	0	0	1.973482	Q9BZG9	LYNX1_HUMAN		0	585	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		D3DWI7|G3XAC2|Q86SR0	Translation_Start_Site	SNP	ENST00000335822.5	0	1	hg19		CCDS34951.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	0	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_177476			17	17		107	105	0		1	0		0	0	17	0		9.999738e-01	7.025621e-01	0	1	0	16	0	17	107
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCGGGGTTGCGACCCAGAGAG	0.627									Familial Hyperaldosteronism type I																													ENST00000292427.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R412C(1)	skin(1)	67						c.(1234-1236)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)						94.0	90.0	91.0					8																	143956537		2203	4300	6503	SO:0001583	missense	1584	2	121412	33	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	g.chr8:143956537G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1234C>T	chr8.hg19:g.143956537G>A	ENSP00000292427:p.Arg412Cys	0					CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C|CYP11B1_ENST00000517471.1_Intron	p.R412C	NM_000497.3	NP_000488.3	0	0	0	1.973482	P15538	C11B1_HUMAN		8	1266	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	1	1	hg19	c.1234C>T	CCDS6392.1	1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126496	0.37533	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.74632	1.04;-0.86;-0.86	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000281	D	0.88672	0.6500	M	0.92122	3.275	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.963	D	0.91324	0.5084	10	0.66056	D	0.02	.	14.4165	0.67153	0.0:0.0:1.0:0.0	.	483;412;412	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	C	90;412;483	ENSP00000430144:R90C;ENSP00000292427:R412C;ENSP00000366903:R483C	ENSP00000292427:R412C	R	-	1	0	0	CYP11B1	143953539	143953539	1.000000	0.71417	0.440000	0.26846	0.064000	0.16182	3.671000	0.54576	2.059000	0.61396	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	1	0	1		2	2	2	0		0	0	89		89	86	1	2.060000	-20.000000	1	0.170000				91	91		404	399	1		1			0	0	89	0		1	0	0	0	0	0	0	91	404
LY6E	4061	broad.mit.edu	37	8	144102804	144102804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000520466.1	+	4	529	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000519546.1_Silent_p.S42S			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	42	UPAR/Ly6.				adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597																																						ENST00000520466.1	0.900000	0.380000	7.600000e-01	4.800000e-01	0.610000	0.627304	0.610000	0.600000																										0				7						c.(124-126)tcC>tcT		lymphocyte antigen 6 complex, locus E							139.0	118.0	125.0					8																	144102804		2203	4300	6503	SO:0001819	synonymous_variant	4061	8	121412	40				g.chr8:144102804C>T	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"""retinoic acid induced gene E"""	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.126C>T	chr8.hg19:g.144102804C>T		0					LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*	p.S42S			0	0	0	1.973482	Q16553	LY6E_HUMAN		4	529	+	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		B2R4X5|D3DWJ2|Q0VDE5	Silent	SNP	ENST00000520466.1	0	1	hg19	c.126C>T	CCDS6394.1	0	.	.	.	.	.	.	.	.	.	.	c	8.332	0.826660	0.16749	.	.	ENSG00000160932	ENST00000522528;ENST00000521182	.	.	.	3.49	-6.98	0.01611	3.49	-6.98	0.01611	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.6254	0.8457	0.01161	0.2107:0.1548:0.3134:0.3211	.	.	.	.	X	31	.	ENSP00000430770:R31X	R	+	1	2	2	LY6E	144174179	144174179	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.481000	0.00456	-2.749000	0.00375	-0.793000	0.03317	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	0	0	1		2	2	2	0		0	0	76		76	73	1	2.060000	-2.746996	1	0.170000	NM_001127213			19	18		344	336	0		1	1		0	0	76	0		9.999892e-01	1	0	233	0	2456	0	19	344
C8orf31	286122	broad.mit.edu	37	8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622																																						ENST00000395172.1	1.000000	0.290000	8.000000e-01	4.200000e-01	0.590000	0.616490	0.590000	1.000000																										0				10						c.(142-144)aGg>aTg		chromosome 8 open reading frame 31							39.0	42.0	41.0					8																	144124636		2203	4300	6503	SO:0001583	missense	286122	0	0					g.chr8:144124636G>T		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.143G>T	chr8.hg19:g.144124636G>T	ENSP00000378601:p.Arg48Met	0					C8orf31_ENST00000517653.1_3'UTR	p.R48M	NM_173687.2	NP_775958.1	0	0	0	1.973482	Q8N9H6	CH031_HUMAN		3	495	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	0	1	hg19	c.143G>T	CCDS6395.1	0	.	.	.	.	.	.	.	.	.	.	g	9.886	1.202848	0.22121	.	.	ENSG00000177335	ENST00000395172	T	0.56776	0.44	2.38	-0.493	0.12038	2.38	-0.493	0.12038	.	.	.	.	.	T	0.45716	0.1356	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.34825	-0.9813	9	0.87932	D	0	.	5.1229	0.14869	0.457:0.0:0.543:0.0	.	48	Q8N9H6	CH031_HUMAN	M	48	ENSP00000378601:R48M	ENSP00000378601:R48M	R	+	2	0	0	C8orf31	144196011	144196011	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.977000	0.01495	-0.126000	0.11682	0.435000	0.28638	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-11.953520	1	0.170000	NM_173687			9	9		171	171	0		1	0		0	0	33	0		9.945831e-01	1.054051e-01	0	1	0	9	0	9	171
LY6H	4062	broad.mit.edu	37	8	144240263	144240263	+	Silent	SNP	G	G	A	rs372749060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000430474.2	-	3	309	c.144C>T	c.(142-144)tcC>tcT	p.S48S	LY6H_ENST00000342752.4_Silent_p.S69S|LY6H_ENST00000414417.2_Silent_p.S69S	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	48	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612																																						ENST00000430474.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				4						c.(142-144)tcC>tcT		lymphocyte antigen 6 complex, locus H		G	,,	0,4406		0,0,2203	151.0	118.0	129.0		207,207,144	-7.1	0.0	8		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	69/162,69/162,48/141	144240263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4062	5	121406	39				g.chr8:144240263G>A	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.144C>T	chr8.hg19:g.144240263G>A		0					LY6H_ENST00000414417.2_Silent_p.S69S|LY6H_ENST00000342752.4_Silent_p.S69S	p.S48S	NM_002347.4	NP_002338.3	0	0	0	1.973482	O94772	LY6H_HUMAN		3	309	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	1	1	hg19	c.144C>T	CCDS6396.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-2.842275	1	0.170000				66	65		389	380	1		1	0		0	0	116	0		1	1.059194e-01	0	0	0	4	0	66	389
ZFP41	286128	broad.mit.edu	37	8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	151					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			TGCGGGAAAGCCTTTAACTGC	0.587																																						ENST00000330701.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(451-453)gCc>gTc		ZFP41 zinc finger protein							110.0	112.0	111.0					8																	144332465		2203	4300	6503	SO:0001583	missense	286128	0	0					g.chr8:144332465C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.452C>T	chr8.hg19:g.144332465C>T	ENSP00000327427:p.Ala151Val	0					ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	p.A151V	NM_173832.4	NP_776193.1	0	0	0	1.973482	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)	2	821	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	1	1	hg19	c.452C>T	CCDS6397.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122670	0.56613	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36340	1.26;1.26;1.26	3.15	2.27	0.28462	3.15	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	1	P	0.38551	0.636	B	0.35770	0.21	T	0.10222	-1.0639	9	0.49607	T	0.09	-9.3379	4.4941	0.11828	0.0:0.6351:0.232:0.1329	.	151	Q8N8Y5	ZFP41_HUMAN	V	151	ENSP00000430465:A151V;ENSP00000327427:A151V;ENSP00000428966:A151V	ENSP00000327427:A151V	A	+	2	0	0	ZFP41	144403840	144403840	0.011000	0.17503	0.241000	0.24154	0.960000	0.62799	0.660000	0.25009	0.647000	0.30713	0.467000	0.42956	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	0	0	1		17	2	2	1		1	1	177		177	173	1	2.060000	-20.000000	1	0.170000	NM_173832			130	129		713	702	1		1	1		1	0	177	0		1	9.615464e-01	0	13	0	18	0	130	713
ZNF696	79943	broad.mit.edu	37	8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	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)			ACACCGGGGAGAAGCCCCACC	0.736																																						ENST00000330143.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999379	0.990000	1.000000																										0				8						c.(952-954)gaG>gaT		zinc finger protein 696							6.0	8.0	7.0					8																	144378799		1992	3926	5918	SO:0001583	missense	79943	0	0					g.chr8:144378799G>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.954G>T	chr8.hg19:g.144378799G>T	ENSP00000328515:p.Glu318Asp	0						p.E318D	NM_030895.2	NP_112157.2	0	0	0	1.973482	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)	3	1363	+	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)		A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	1	1	hg19	c.954G>T	CCDS6399.1	1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811648	0.70797	.	.	ENSG00000185730	ENST00000330143	T	0.26810	1.71	2.97	2.07	0.26955	2.97	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.46947	1.48	0.80722	D	1	P	0.35807	0.522	B	0.40199	0.322	T	0.03662	-1.1015	8	.	.	.	.	7.6192	0.28175	0.141:0.0:0.859:0.0	.	318	Q9H7X3	ZN696_HUMAN	D	318	ENSP00000328515:E318D	.	E	+	3	2	2	ZNF696	144450174	144450174	0.998000	0.40836	0.990000	0.47175	0.638000	0.38207	3.013000	0.49582	1.661000	0.50771	0.551000	0.68910	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_030895			16	16		73	65	0		1			0	0	18	0		9.999177e-01	0	0	0	0	0	0	16	73
RHPN1	114822	broad.mit.edu	37	8	144463859	144463859	+	Missense_Mutation	SNP	G	G	A	rs183169711	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144463859G>A	ENST00000289013.6	+	13	1707	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	561					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGTCCTCATCGCTGCCGTCAT	0.706													G|||	8	0.00159744	0.0061	0.0	5008	,	,		15476	0.0		0.0	False		,,,				2504	0.0					ENST00000289013.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998551	0.990000	1.000000																										0				9						c.(1606-1608)Gct>Act		rhophilin, Rho GTPase binding protein 1		G	THR/ALA	13,4021		0,13,2004	22.0	30.0	28.0		1606	4.0	0.4	8		28	0,8346		0,0,4173	yes	missense	RHPN1	NM_052924.2	58	0,13,6177	AA,AG,GG		0.0,0.3223,0.105	benign	536/671	144463859	13,12367	2017	4173	6190	SO:0001583	missense	114822	47	120652	44				g.chr8:144463859G>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1606G>A	chr8.hg19:g.144463859G>A	ENSP00000289013:p.Ala536Thr	0						p.A536T	NM_052924.2	NP_443156.2	0	0	0	1.973482	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)	13	1707	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	1	0	hg19	c.1606G>A	CCDS47927.1	1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	16.84	3.234645	0.58886	0.003223	0.0	ENSG00000158106	ENST00000289013	T	0.26223	1.75	4.83	3.96	0.45880	4.83	3.96	0.45880	.	0.062452	0.64402	D	0.000005	T	0.17959	0.0431	N	0.11131	0.1	0.47374	D	0.999409	D	0.67145	0.996	P	0.60068	0.868	T	0.03354	-1.1045	10	0.22109	T	0.4	-1.6032	12.173	0.54169	0.0839:0.0:0.9161:0.0	.	536	Q8TCX5-2	.	T	536	ENSP00000289013:A536T	ENSP00000289013:A536T	A	+	1	0	0	RHPN1	144535002	144535002	1.000000	0.71417	0.374000	0.26016	0.918000	0.54935	4.383000	0.59600	1.029000	0.39812	0.456000	0.33151	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1	1	0	1		2	2	2	0		0	0	33		33	31	1	2.060000	-4.312064	1	0.170000				19	18		111	108	1		1	1		0	0	33	0		9.999924e-01	8.770196e-01	0	10	0	14	0	19	111
ZC3H3	23144	broad.mit.edu	37	8	144589969	144589969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	554					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672																																						ENST00000262577.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999799	0.990000	1.000000																										0				23						c.(1660-1662)ccG>ccA		zinc finger CCCH-type containing 3							49.0	57.0	55.0					8																	144589969		2202	4300	6502	SO:0001819	synonymous_variant	23144	3	121402	37				g.chr8:144589969C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1662G>A	chr8.hg19:g.144589969C>T		0						p.P554P	NM_015117.2	NP_055932.2	0	0	0	1.973482	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)	4	1693	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	1	1	hg19	c.1662G>A	CCDS6402.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	1	0	1		2	2	2	0		0	0	69		69	66	1	2.060000	-19.984320	1	0.170000	NM_015117			55	55		394	387	1		1	1		0	0	69	0		1	9.989363e-01	0	21	0	54	0	55	394
GSDMD	79792	broad.mit.edu	37	8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S|GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	242					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617																																						ENST00000526406.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				12						c.(724-726)Cca>Tca		gasdermin D							42.0	42.0	42.0					8																	144643581		2200	4295	6495	SO:0001583	missense	79792	1	121006	28				g.chr8:144643581C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.724C>T	chr8.hg19:g.144643581C>T	ENSP00000433209:p.Pro242Ser	0					GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S|GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S	p.P242S	NM_001166237.1	NP_001159709.1	0	0	0	1.973482	P57764	GSDMD_HUMAN		9	1607	+			D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	1	1	hg19	c.724C>T	CCDS34956.1	1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022276	0.07634	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.64	-0.515	0.11954	3.64	-0.515	0.11954	.	2.577270	0.01232	N	0.008370	T	0.15003	0.0362	L	0.41573	1.285	0.09310	N	1	B;B;B	0.25312	0.057;0.057;0.123	B;B;B	0.24974	0.056;0.056;0.057	T	0.09818	-1.0657	10	0.09084	T	0.74	-1.1727	2.3156	0.04198	0.1936:0.3621:0.3335:0.1108	.	242;242;290	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	242;290;242;258	ENSP00000433209:P242S;ENSP00000433958:P290S;ENSP00000262580:P242S;ENSP00000436684:P258S	ENSP00000262580:P242S	P	+	1	0	0	GSDMD	144714724	144714724	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.230000	0.09083	-0.115000	0.11915	0.637000	0.83480	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_024736			21	21		60	59	1		1	1		0	0	23	0		9.999992e-01	1	0	69	0	283	0	21	60
EEF1D	1936	broad.mit.edu	37	8	144663295	144663295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	ENST00000529272.1	-	5	719	c.319A>G	c.(319-321)Aag>Gag	p.K107E	EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000532741.1_Missense_Mutation_p.K523E|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	107	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTCCAGCTTGGAGATGGCC	0.692																																						ENST00000529272.1	0.970000	0.440000	8.300000e-01	5.500000e-01	0.680000	0.698872	0.680000	0.670000																										0				14						c.(319-321)Aag>Gag		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							38.0	40.0	39.0					8																	144663295		2203	4298	6501	SO:0001583	missense	1936	0	0					g.chr8:144663295T>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.319A>G	chr8.hg19:g.144663295T>C	ENSP00000434872:p.Lys107Glu	0					EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000532741.1_Missense_Mutation_p.K523E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000449291.2_5'Flank	p.K107E			0	0	0	1.973482	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)	5	719	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	1	1	hg19	c.319A>G	CCDS6405.1	0	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418226	0.83449	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	3.62	0.41486	4.8	3.62	0.41486	.	0.093320	0.64402	D	0.000001	T	0.75488	0.3856	M	0.85197	2.74	0.48452	D	0.999657	B;B;D;B;D;P	0.62365	0.031;0.267;0.99;0.148;0.991;0.528	B;B;P;B;P;B	0.59357	0.023;0.118;0.856;0.046;0.792;0.234	T	0.75947	-0.3138	9	0.48119	T	0.1	.	9.989	0.41858	0.0:0.0:0.1702:0.8298	.	88;473;401;107;523;473	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	E	107;523;88;473;83;107;107;473;401;107;473;64;83;107;83;107;107;107;107;107;88;123	.	ENSP00000317399:K107E	K	-	1	0	0	EEF1D	144734438	144734438	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.572000	0.45999	0.782000	0.33613	0.374000	0.22700	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	1	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-20.000000	1	0.170000	NM_032378			23	23		368	365	0		1	1		0	0	66	0		9.999994e-01	1	0	54	0	2230	0	23	368
TSTA3	7264	broad.mit.edu	37	8	144695733	144695733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	257					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCACCACCGCCTCGGCTGCCT	0.667																																						ENST00000425753.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998714	0.990000	1.000000																										0				9						c.(769-771)gaG>gaA		tissue specific transplantation antigen P35B							24.0	24.0	24.0					8																	144695733		2201	4298	6499	SO:0001819	synonymous_variant	7264	0	0					g.chr8:144695733C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.771G>A	chr8.hg19:g.144695733C>T		0					TSTA3_ENST00000529064.1_Silent_p.E257E	p.E257E	NM_003313.3	NP_003304.1	0	0	0	1.973482	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)	9	874	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	1	1	hg19	c.771G>A	CCDS6408.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	0	0	0		2	2	2	0		0	0	28		28	28	1	2.060000	-3.344146	1	0.170000	NM_003313			20	19		118	115	0		1	1		0	0	28	0		9.999962e-01	1	0	93	0	215	0	20	118
ZNF623	9831	broad.mit.edu	37	8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*|ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532																																						ENST00000501748.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(271-273)Gga>Tga		zinc finger protein 623							85.0	86.0	86.0					8																	144732313		2203	4300	6503	SO:0001587	stop_gained	9831	0	0					g.chr8:144732313G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.271G>T	chr8.hg19:g.144732313G>T	ENSP00000445979:p.Gly91*	0					ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	p.G91*	NM_014789.3	NP_055604	0	0	0	1.973482	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	1	360	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A4FU80|B4DGP3|E7ENV5	Nonsense_Mutation	SNP	ENST00000501748.2	0	1	hg19	c.271G>T	CCDS34957.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.026268	0.97216	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.35	3.47	0.39725	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5066	12.372	0.55260	0.0:0.1714:0.8286:0.0	.	.	.	.	X	51;51;51;91;91	.	ENSP00000330358:G51X	G	+	1	0	0	ZNF623	144803456	144803456	0.940000	0.31905	0.968000	0.41197	0.548000	0.35241	1.416000	0.34759	1.185000	0.42971	-0.150000	0.13652	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	1	0	1		2	2	2	0		0	0	114		114	114	1	2.060000	-3.192509	1	0.170000	NM_014789			101	98		464	454	0		1	1		0	0	114	0		1	9.994773e-01	0	23	0	30	0	101	464
ZNF707	286075	broad.mit.edu	37	8	144776463	144776463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C			Q96C28	ZN707_HUMAN	zinc finger protein 707	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627																																						ENST00000532205.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				1						c.(877-879)tgC>tgT		zinc finger protein 707							28.0	35.0	33.0					8																	144776463		2169	4277	6446	SO:0001819	synonymous_variant	286075	2	121066	25				g.chr8:144776463C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.879C>T	chr8.hg19:g.144776463C>T		0					ZNF707_ENST00000532158.1_Silent_p.C293C|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C	p.C293C			0	0	0	1.973482	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	8	1778	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	1	1	hg19	c.879C>T	CCDS47932.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_173831			22	22		88	85	1		1	1		0	0	28	0		9.999993e-01	9.936370e-01	0	4	0	32	0	22	88
MAPK15	225689	broad.mit.edu	37	8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A	rs375622398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682																																						ENST00000338033.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				12						c.(319-321)Ggc>Agc		mitogen-activated protein kinase 15			SER/GLY	1,4403		0,1,2201	22.0	24.0	23.0		319	-6.0	0.0	8		23	0,8600		0,0,4300	no	missense	MAPK15	NM_139021.2	56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	107/545	144800977	1,13003	2202	4300	6502	SO:0001583	missense	225689	5	121124	34				g.chr8:144800977G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.319G>A	chr8.hg19:g.144800977G>A	ENSP00000337691:p.Gly107Ser	0					MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|RP11-429J17.5_ENST00000527908.1_RNA	p.G107S	NM_139021.2	NP_620590.2	0	0	0	1.973482	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	5	438	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	1	1	hg19	c.319G>A	CCDS6409.2	1	.	.	.	.	.	.	.	.	.	.	g	11.29	1.593734	0.28445	2.27E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47177	0.85;0.85;0.85	4.26	-6.0	0.02206	4.26	-6.0	0.02206	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);	1.198720	0.06357	N	0.710919	T	0.29524	0.0736	L	0.37561	1.115	0.09310	N	1	B	0.22851	0.076	B	0.17722	0.019	T	0.21075	-1.0256	10	0.35671	T	0.21	.	3.4777	0.07590	0.4302:0.0:0.3001:0.2696	.	107	Q8TD08	MK15_HUMAN	S	107;124;107	ENSP00000337691:G107S;ENSP00000378539:G124S;ENSP00000378540:G107S	ENSP00000337691:G107S	G	+	1	0	0	MAPK15	144872965	144872965	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	1.409000	0.34680	-0.901000	0.03891	0.431000	0.28591	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_139021			28	28		115	114	0		1	1		0	0	21	0		1	3.446118e-01	0	4	0	2	0	28	115
MAPK15	225689	broad.mit.edu	37	8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647																																						ENST00000338033.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				12						c.(637-639)Cgg>Tgg		mitogen-activated protein kinase 15							47.0	48.0	48.0					8																	144801568		2203	4300	6503	SO:0001583	missense	225689	7	121396	38				g.chr8:144801568C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.637C>T	chr8.hg19:g.144801568C>T	ENSP00000337691:p.Arg213Trp	0					MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|RP11-429J17.5_ENST00000527908.1_RNA	p.R213W	NM_139021.2	NP_620590.2	0	0	0	1.973482	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	7	756	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	1	1	hg19	c.637C>T	CCDS6409.2	1	.	.	.	.	.	.	.	.	.	.	c	18.25	3.583449	0.65992	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.43688	0.94;0.94;0.94	4.14	1.08	0.20341	4.14	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.233835	0.36134	N	0.002761	T	0.57184	0.2036	L	0.59436	1.845	0.32909	D	0.514219	D	0.89917	1.0	D	0.74348	0.983	T	0.67440	-0.5670	10	0.56958	D	0.05	-14.6158	13.9176	0.63908	0.0:0.561:0.439:0.0	.	213	Q8TD08	MK15_HUMAN	W	213;230;213	ENSP00000337691:R213W;ENSP00000378539:R230W;ENSP00000378540:R213W	ENSP00000337691:R213W	R	+	1	2	2	MAPK15	144873556	144873556	0.112000	0.22096	0.564000	0.28396	0.677000	0.39632	1.434000	0.34958	0.008000	0.14787	0.491000	0.48974	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.338945	1	0.170000	NM_139021			39	39		210	204	1		1	1		0	0	34	0		1	2.466334e-01	0	2	0	4	0	39	210
FAM83H	286077	broad.mit.edu	37	8	144808550	144808550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144808550C>T	ENST00000388913.3	-	5	3206	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1027					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCGTTGGCCGTGGCTGAGG	0.682																																						ENST00000388913.3	1.000000	0.360000	1	5.500000e-01	0.800000	0.785958	0.800000	1.000000																										0				21						c.(3079-3081)acG>acA		family with sequence similarity 83, member H							16.0	23.0	20.0					8																	144808550		2122	4230	6352	SO:0001819	synonymous_variant	286077	0	0					g.chr8:144808550C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3081G>A	chr8.hg19:g.144808550C>T		0						p.T1027T	NM_198488.3	NP_940890	0	0	0	1.973482	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	5	3206	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	0	1	hg19	c.3081G>A	CCDS6410.2	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	0	0	1		2	2	2	0		0	0	14		14	13	1	2.060000	-11.599160	1	0.170000	NM_198488			7	7		96	95	0		1	1		0	0	14	0		9.811800e-01	9.836651e-01	0	13	0	93	0	7	96
FAM83H	286077	broad.mit.edu	37	8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144810228C>T	ENST00000388913.3	-	5	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	468					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706																																						ENST00000388913.3	0.850000	0.270000	6.900000e-01	3.800000e-01	0.520000	0.541585	0.520000	0.500000																										0				21						c.(1402-1404)cGc>cAc		family with sequence similarity 83, member H							24.0	36.0	32.0					8																	144810228		2077	4183	6260	SO:0001583	missense	286077	0	0					g.chr8:144810228C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1403G>A	chr8.hg19:g.144810228C>T	ENSP00000373565:p.Arg468His	0						p.R468H	NM_198488.3	NP_940890	0	0	0	1.973482	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	5	1528	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	0	1	hg19	c.1403G>A	CCDS6410.2	0	.	.	.	.	.	.	.	.	.	.	N	14.37	2.515846	0.44763	.	.	ENSG00000180921	ENST00000388913	T	0.17370	2.28	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.336100	0.23452	U	0.048022	T	0.31606	0.0802	L	0.34521	1.04	0.21105	N	0.99979	D	0.89917	1.0	D	0.68621	0.959	T	0.09015	-1.0694	10	0.87932	D	0	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	468	Q6ZRV2	FA83H_HUMAN	H	468	ENSP00000373565:R468H	ENSP00000373565:R468H	R	-	2	0	0	FAM83H	144882216	144882216	0.590000	0.26815	0.971000	0.41717	0.114000	0.19823	2.320000	0.43797	2.234000	0.73211	0.555000	0.69702	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-13.067900	1	0.170000	NM_198488			11	10		239	237	0		1	0		0	0	28	0		9.983305e-01	1.604726e-01	0	1	0	14	0	11	239
FAM83H	286077	broad.mit.edu	37	8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	103					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627																																						ENST00000388913.3	1.000000	0.830000	1	9.800000e-01	0.990000	0.985090	0.990000	1.000000																										0				21						c.(307-309)gCc>gTc		family with sequence similarity 83, member H							46.0	53.0	51.0					8																	144812445		2059	4190	6249	SO:0001583	missense	286077	1	121006	28				g.chr8:144812445G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.308C>T	chr8.hg19:g.144812445G>A	ENSP00000373565:p.Ala103Val	0					MIR4664_ENST00000583819.1_RNA	p.A103V	NM_198488.3	NP_940890	0	0	0	1.973482	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	2	433	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	1	1	hg19	c.308C>T	CCDS6410.2	1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.115005	0.77210	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.08	4.18	0.49190	5.08	4.18	0.49190	.	0.059964	0.64402	D	0.000004	T	0.28499	0.0705	L	0.51422	1.61	0.37744	D	0.925714	D	0.63880	0.993	D	0.63381	0.914	T	0.09122	-1.0689	10	0.52906	T	0.07	.	14.1178	0.65167	0.0:0.0:0.8485:0.1515	.	103	Q6ZRV2	FA83H_HUMAN	V	103	ENSP00000373565:A103V	ENSP00000373565:A103V	A	-	2	0	0	FAM83H	144884433	144884433	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	3.843000	0.55865	1.242000	0.43836	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_198488			35	34		314	310	1		1	1		0	0	61	0		1	9.999998e-01	0	48	0	173	0	35	314
FAM83H	286077	broad.mit.edu	37	8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	4					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662																																						ENST00000388913.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999314	0.990000	1.000000																										0				21						c.(10-12)cGc>cAc		family with sequence similarity 83, member H							11.0	12.0	12.0					8																	144812742		1901	3931	5832	SO:0001583	missense	286077	3	118622	28				g.chr8:144812742C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.11G>A	chr8.hg19:g.144812742C>T	ENSP00000373565:p.Arg4His	0					MIR4664_ENST00000583819.1_RNA	p.R4H	NM_198488.3	NP_940890	0	0	0	1.973482	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)	2	136	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	0	1	hg19	c.11G>A	CCDS6410.2	1	.	.	.	.	.	.	.	.	.	.	c	31	5.103443	0.94245	.	.	ENSG00000180921	ENST00000388913	T	0.31769	1.48	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.238609	0.34314	N	0.004066	T	0.53802	0.1819	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58526	-0.7621	10	0.87932	D	0	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	4	Q6ZRV2	FA83H_HUMAN	H	4	ENSP00000373565:R4H	ENSP00000373565:R4H	R	-	2	0	0	FAM83H	144884730	144884730	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.719000	0.68462	2.285000	0.76669	0.478000	0.44815	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_198488			22	22		126	125	1		1	1		0	0	20	0		9.999992e-01	9.999706e-01	0	45	0	59	0	22	126
SCRIB	23513	broad.mit.edu	37	8	144885613	144885613	+	Silent	SNP	G	G	A	rs536818456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000320476.3	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000377533.3_Silent_p.G1100G|SCRIB_ENST00000356994.2_Silent_p.G1181G	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1181	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		11261	0.0		0.0	False		,,,				2504	0.001				Pancreas(51;966 1133 10533 14576 29674)	ENST00000320476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999523	0.990000	1.000000																										0				42						c.(3541-3543)ggC>ggT		scribbled planar cell polarity protein							20.0	20.0	20.0					8																	144885613		2191	4291	6482	SO:0001819	synonymous_variant	23513	7	120150	33				g.chr8:144885613G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3543C>T	chr8.hg19:g.144885613G>A		0					SCRIB_ENST00000356994.2_Silent_p.G1181G|SCRIB_ENST00000377533.3_Silent_p.G1100G	p.G1181G	NM_015356.4	NP_056171	0	0	0	1.973482	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)	24	3549	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	1	1	hg19	c.3543C>T	CCDS6411.1	1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372995	0.05034	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	-3.59	0.04583	4.82	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2487	0.01978	0.3264:0.2015:0.3352:0.137	.	.	.	.	X	177	.	.	R	-	1	2	2	SCRIB	144957601	144957601	0.000000	0.05858	0.972000	0.41901	0.088000	0.18126	-3.061000	0.00623	-0.478000	0.06823	-0.518000	0.04402	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_015356			17	17		78	76	0		1	1		0	0	20	0		9.999770e-01	9.994899e-01	0	31	0	32	0	17	78
SCRIB	23513	broad.mit.edu	37	8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000320476.3	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V|SCRIB_ENST00000356994.2_Missense_Mutation_p.A697V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000320476.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2089-2091)gCc>gTc		scribbled planar cell polarity protein							153.0	131.0	139.0					8																	144890804		2203	4300	6503	SO:0001583	missense	23513	0	0					g.chr8:144890804G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2090C>T	chr8.hg19:g.144890804G>A	ENSP00000322938:p.Ala697Val	0					SCRIB_ENST00000356994.2_Missense_Mutation_p.A697V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V	p.A697V	NM_015356.4	NP_056171	0	0	0	1.973482	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)	15	2096	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	1	1	hg19	c.2090C>T	CCDS6411.1	1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303627	0.40795	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37058	1.45;1.42;1.22;1.91	4.2	2.34	0.29019	4.2	2.34	0.29019	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	9	0.26408	T	0.33	.	6.0112	0.19578	0.1011:0.0:0.7118:0.1871	.	697;697	Q14160;Q14160-3	SCRIB_HUMAN;.	V	697;697;616;66;15	ENSP00000349486:A697V;ENSP00000322938:A697V;ENSP00000366756:A616V;ENSP00000433546:A15V	ENSP00000322938:A697V	A	-	2	0	0	SCRIB	144962792	144962792	0.139000	0.22563	0.001000	0.08648	0.412000	0.31113	2.734000	0.47368	0.342000	0.23796	0.401000	0.26515	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_015356			44	44		199	197	1		1	1		0	0	29	0		1	9.999989e-01	0	27	0	71	0	44	199
SCRIB	23513	broad.mit.edu	37	8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000320476.3	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|SCRIB_ENST00000356994.2_Missense_Mutation_p.S338I|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000320476.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999790	0.990000	1.000000																										0				42						c.(1012-1014)aGc>aTc		scribbled planar cell polarity protein							30.0	25.0	27.0					8																	144893409		2200	4296	6496	SO:0001583	missense	23513	0	0					g.chr8:144893409C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1013G>T	chr8.hg19:g.144893409C>A	ENSP00000322938:p.Ser338Ile	0					SCRIB_ENST00000356994.2_Missense_Mutation_p.S338I|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I	p.S338I	NM_015356.4	NP_056171	0	0	0	1.973482	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)	10	1019	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	1	1	hg19	c.1013G>T	CCDS6411.1	1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854506	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.52295	2.24;0.67;1.85	3.28	1.39	0.22231	3.28	1.39	0.22231	.	.	.	.	.	T	0.31670	0.0804	N	0.20328	0.56	0.32440	N	0.546881	P;P	0.43973	0.725;0.823	B;B	0.43838	0.347;0.433	T	0.43393	-0.9394	9	0.72032	D	0.01	.	4.1911	0.10421	0.0:0.5296:0.2014:0.2691	.	338;338	Q14160;Q14160-3	SCRIB_HUMAN;.	I	338;338;257	ENSP00000349486:S338I;ENSP00000322938:S338I;ENSP00000366756:S257I	ENSP00000322938:S338I	S	-	2	0	0	SCRIB	144965397	144965397	0.998000	0.40836	0.056000	0.19401	0.002000	0.02628	3.038000	0.49783	0.694000	0.31654	-0.302000	0.09304	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1		2	2	2	0		0	0	16		16	14	1	2.060000	-20.000000	1	0.170000	NM_015356			19	19		84	82	1		1	1		0	0	16	0		9.999944e-01	9.999680e-01	0	32	0	52	0	19	84
PUF60	22827	broad.mit.edu	37	8	144899948	144899948	+	Silent	SNP	G	G	A	rs373613651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|PUF60_ENST00000349157.6_Silent_p.Y257Y|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000524570.1_5'UTR|SCRIB_ENST00000356994.2_5'Flank	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0					ENST00000526683.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				14						c.(820-822)taC>taT		poly-U binding splicing factor 60KDa		G	,,	0,4302		0,0,2151	20.0	26.0	24.0		693,771,822	-1.6	1.0	8		24	2,8496		0,2,4247	no	coding-synonymous,coding-synonymous,coding-synonymous	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	,,	0,2,6398	AA,AG,GG		0.0235,0.0,0.0156	,,	231/517,257/543,274/560	144899948	2,12798	2151	4249	6400	SO:0001819	synonymous_variant	22827	4	120690	32				g.chr8:144899948G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.822C>T	chr8.hg19:g.144899948G>A		0					PUF60_ENST00000349157.6_Silent_p.Y257Y|SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.Y245Y|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000527197.1_Silent_p.Y228Y	p.Y274Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	0	0	0	1.973482	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)	9	1377	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	1	1	hg19	c.822C>T	CCDS47934.1	1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174581	0.09391	0.0	2.35E-4	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.92	-1.58	0.08479	3.92	-1.58	0.08479	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48896	-0.8994	4	.	.	.	.	9.2127	0.37328	0.7488:0.0:0.2512:0.0	.	.	.	.	M	144;272	.	.	T	-	2	0	0	PUF60	144971936	144971936	0.069000	0.21087	0.994000	0.49952	0.853000	0.48598	-0.440000	0.06888	-0.350000	0.08262	-1.119000	0.02030	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_014281			26	26		96	92	1		1	1		0	0	20	0		1	1	0	127	0	321	0	26	96
NRBP2	340371	broad.mit.edu	37	8	144919856	144919856	+	Silent	SNP	G	G	A	rs192975604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144919856G>A	ENST00000442628.2	-	11	1051	c.912C>T	c.(910-912)cgC>cgT	p.R304R	NRBP2_ENST00000327830.5_Silent_p.R61R	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAAGAGCACGCGGTGGAAGA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13327	0.0		0.001	False		,,,				2504	0.0					ENST00000442628.2	1.000000	0.590000	1	9.100000e-01	0.990000	0.957079	0.990000	1.000000																										0				5						c.(910-912)cgC>cgT		nuclear receptor binding protein 2		G		0,4390		0,0,2195	28.0	33.0	31.0		912	-8.6	0.5	8		31	2,8576		0,2,4287	yes	coding-synonymous	NRBP2	NM_178564.3		0,2,6482	AA,AG,GG		0.0233,0.0,0.0154		304/502	144919856	2,12966	2195	4289	6484	SO:0001819	synonymous_variant	340371	24	119688	40				g.chr8:144919856G>A	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.912C>T	chr8.hg19:g.144919856G>A		0					NRBP2_ENST00000327830.5_Silent_p.R61R	p.R304R	NM_178564.3	NP_848659.2	0	0	0	1.973482			OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)	11	1051	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)			Silent	SNP	ENST00000442628.2	0	1	hg19	c.912C>T	CCDS34959.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-12.489070	1	0.170000	NM_178564			6	6		42	42	0		1	1	0	0	0	11	0		9.683490e-01	9.912810e-01	0	23	0	46	1	6	42
EPPK1	83481	broad.mit.edu	37	8	144940360	144940360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940360G>A	ENST00000525985.1	-	2	7133	c.7062C>T	c.(7060-7062)agC>agT	p.S2354S				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACGCGGTGGCTGTGCACGG	0.687																																						ENST00000525985.1	0.330000	0.190000	3.000000e-01	2.200000e-01	0.250000	0.263223	0.250000	0.260000																										0				71						c.(7060-7062)agC>agT		epiplakin 1							192.0	186.0	188.0					8																	144940360		2163	4228	6391	SO:0001819	synonymous_variant	83481	0	0					g.chr8:144940360G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7062C>T	chr8.hg19:g.144940360G>A		0						p.S2354S			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	7133	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	0	1	hg19	c.7062C>T		0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0		2	2	2	0		0	0	462		462	507	1	2.060000	-3.322386	1	0.170000	NM_031308			62	55		2713	2390	0		1	1		0	0	462	0		1	4.486425e-01	0	5	0	62	0	62	2713
EPPK1	83481	broad.mit.edu	37	8	144940647	144940647	+	Missense_Mutation	SNP	C	C	A	rs202019740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940647C>A	ENST00000525985.1	-	2	6846	c.6775G>T	c.(6775-6777)Gcc>Tcc	p.A2259S				P58107	EPIPL_HUMAN	epiplakin 1	2259						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCAGGGCCGTGCCGGGC	0.726																																						ENST00000525985.1	0.460000	0.160000	3.800000e-01	2.200000e-01	0.280000	0.302041	0.280000	0.280000																										0				71						c.(6775-6777)Gcc>Tcc		epiplakin 1		C	SER/ALA	0,4302		0,0,2151	44.0	41.0	42.0		6775	4.7	1.0	8		42	4,8492		0,4,4244	yes	missense	EPPK1	NM_031308.1	99	0,4,6395	AA,AC,CC		0.0471,0.0,0.0313	probably-damaging	2259/2420	144940647	4,12794	2151	4248	6399	SO:0001583	missense	83481	1	120336	44				g.chr8:144940647C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6775G>T	chr8.hg19:g.144940647C>A	ENSP00000436337:p.Ala2259Ser	0						p.A2259S			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	6846	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	0	1	hg19	c.6775G>T		0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051270	0.75960	0.0	4.71E-4	ENSG00000227184	ENST00000525985	T	0.76709	-1.04	4.67	4.67	0.58626	4.67	4.67	0.58626	.	.	.	.	.	D	0.86973	0.6062	M	0.70787	2.145	0.26347	N	0.977271	D	0.56968	0.978	D	0.73380	0.98	T	0.79347	-0.1841	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2259	E9PPU0	.	S	2259	ENSP00000436337:A2259S	ENSP00000436337:A2259S	A	-	1	0	0	EPPK1	145012635	145012635	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.203000	0.51075	2.420000	0.82092	0.591000	0.81541	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0		2	2	2	0		0	0	94		94	68	1	2.060000	-3.380677	1	0.170000	NM_031308			14	11		556	495	0		1	1		0	0	94	0		9.994449e-01	4.508088e-01	0	5	0	54	0	14	556
EPPK1	83481	broad.mit.edu	37	8	144940665	144940665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940665C>T	ENST00000525985.1	-	2	6828	c.6757G>A	c.(6757-6759)Gtg>Atg	p.V2253M				P58107	EPIPL_HUMAN	epiplakin 1	2253						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCAGCACGCCCTTCCAC	0.716																																						ENST00000525985.1	0.420000	0.140000	3.400000e-01	2.000000e-01	0.260000	0.276646	0.260000	0.260000																										0				71						c.(6757-6759)Gtg>Atg		epiplakin 1							54.0	51.0	52.0					8																	144940665		2182	4261	6443	SO:0001583	missense	83481	21	120788	38				g.chr8:144940665C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6757G>A	chr8.hg19:g.144940665C>T	ENSP00000436337:p.Val2253Met	0						p.V2253M			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	6828	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	0	1	hg19	c.6757G>A		0	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058856	0.55325	.	.	ENSG00000227184	ENST00000525985	T	0.73789	-0.78	4.67	-4.14	0.03892	4.67	-4.14	0.03892	.	.	.	.	.	T	0.70518	0.3233	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.63954	-0.6520	9	0.41790	T	0.15	.	9.438	0.38650	0.0:0.162:0.6285:0.2095	.	2253	E9PPU0	.	M	2253	ENSP00000436337:V2253M	ENSP00000436337:V2253M	V	-	1	0	0	EPPK1	145012653	145012653	0.000000	0.05858	0.819000	0.32651	0.999000	0.98932	-1.087000	0.03383	-0.705000	0.05035	0.591000	0.81541	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0		2	2	2	0		0	0	92		92	78	1	2.060000	-3.285228	1	0.170000	NM_031308			14	12		609	584	0		1	1		0	0	92	0		9.996677e-01	5.906727e-01	0	4	0	81	0	14	609
EPPK1	83481	broad.mit.edu	37	8	144942172	144942172	+	Silent	SNP	G	G	A	rs546164646	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	1750						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.P1750P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17666	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.P1750P(1)	lung(1)	71						c.(5248-5250)ccC>ccT		epiplakin 1							100.0	104.0	102.0					8																	144942172		2008	4162	6170	SO:0001819	synonymous_variant	83481	22	120904	44				g.chr8:144942172G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5250C>T	chr8.hg19:g.144942172G>A		0						p.P1750P			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	5321	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	1	1	hg19	c.5250C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-2.563249	1	0.170000	NM_031308			92	89		405	400	1		1	1		0	0	99	0		1	9.979038e-01	0	15	0	28	0	92	405
EPPK1	83481	broad.mit.edu	37	8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1	1390						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647																																						ENST00000525985.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(4168-4170)aGc>aAc		epiplakin 1							22.0	27.0	25.0					8																	144943253		2177	4268	6445	SO:0001583	missense	83481	0	0					g.chr8:144943253C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4169G>A	chr8.hg19:g.144943253C>T	ENSP00000436337:p.Ser1390Asn	0						p.S1390N			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	4240	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	1	1	hg19	c.4169G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.287631	0.00248	.	.	ENSG00000227184	ENST00000525985	T	0.73152	-0.72	4.66	-2.64	0.06114	4.66	-2.64	0.06114	.	.	.	.	.	T	0.39462	0.1079	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.22706	T	0.39	.	0.3204	0.00302	0.2544:0.2566:0.2497:0.2394	.	1390	E9PPU0	.	N	1390	ENSP00000436337:S1390N	ENSP00000436337:S1390N	S	-	2	0	0	EPPK1	145015241	145015241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.376000	0.07943	-0.137000	0.14449	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_031308			41	41		158	155	1		1	1		0	0	30	0		1	9.724270e-01	0	8	0	17	0	41	158
EPPK1	83481	broad.mit.edu	37	8	144945010	144945010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1	804						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCACCAGCGGGGACTGCG	0.637																																						ENST00000525985.1	1.000000	0.640000	1	7.900000e-01	0.960000	0.918429	0.960000	1.000000																										0				71						c.(2410-2412)ccG>ccA		epiplakin 1							41.0	48.0	46.0					8																	144945010		2084	4201	6285	SO:0001819	synonymous_variant	83481	9	120940	39				g.chr8:144945010C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2412G>A	chr8.hg19:g.144945010C>T		0						p.P804P			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	2483	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	1	1	hg19	c.2412G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1		2	2	2	0		0	0	56		56	52	1	2.060000	-20.000000	1	0.170000	NM_031308			24	22		263	257	0		1	1		0	0	56	0		9.999996e-01	6.161447e-01	0	4	0	20	0	24	263
EPPK1	83481	broad.mit.edu	37	8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1	115						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687																																						ENST00000525985.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				71						c.(343-345)gCt>gAt		epiplakin 1							25.0	30.0	28.0					8																	144947078		2044	4185	6229	SO:0001583	missense	83481	0	0					g.chr8:144947078G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.344C>A	chr8.hg19:g.144947078G>T	ENSP00000436337:p.Ala115Asp	0						p.A115D			0	0	0	1.973482	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	415	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	1	1	hg19	c.344C>A		1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197863	0.58126	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.44	4.44	0.53790	4.44	4.44	0.53790	.	.	.	.	.	D	0.88055	0.6334	M	0.83774	2.66	0.43308	D	0.99531	D	0.89917	1.0	D	0.80764	0.994	D	0.89571	0.3813	9	0.62326	D	0.03	.	14.5862	0.68326	0.0:0.0:1.0:0.0	.	115	E9PPU0	.	D	115	ENSP00000436337:A115D	ENSP00000436337:A115D	A	-	2	0	0	EPPK1	145019066	145019066	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	7.583000	0.82559	2.304000	0.77564	0.407000	0.27541	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000	NM_031308			47	46		240	237	1		1	1		0	0	48	0		1	7.631185e-01	0	9	0	7	0	47	240
PLEC	5339	broad.mit.edu	37	8	144991209	144991209	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000354958.2_Silent_p.P4238P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4397	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)			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						TGGAGACGGCGGGGCTGATGG	0.667																																						ENST00000322810.4	1.000000	0.740000	1	8.700000e-01	0.990000	0.956012	0.990000	1.000000																										0				137						c.(13189-13191)ccC>ccT		plectin							36.0	45.0	42.0					8																	144991209		2025	4179	6204	SO:0001819	synonymous_variant	5339	3	120872	36				g.chr8:144991209G>A	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.13191C>T	chr8.hg19:g.144991209G>A		0					PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000398774.2_Silent_p.P4228P	p.P4397P	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	13360	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.13191C>T	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-2.744762	1	0.170000	NM_000445			35	34		357	347	1		1	1		0	0	52	0		1	1	0	45	0	363	0	35	357
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	C	T	rs143548638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000354958.2_Silent_p.T4126T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4285	Binding to intermediate filaments. {ECO:0000250}.|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)			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						TCTCCTTGCCCGTCTCGGGGT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		19843	0.0		0.002	False		,,,				2504	0.002					ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(12853-12855)acG>acA		plectin		C	,,,,,,,	0,4282		0,0,2141	74.0	82.0	79.0		12525,12402,12378,12855,12348,12444,12456,12444	-2.4	1.0	8	dbSNP_134	79	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	0,1,6382	TT,TC,CC		0.0118,0.0,0.0078	,,,,,,,	4175/4575,4134/4534,4126/4526,4285/4685,4116/4516,4148/4548,4152/4552,4148/4548	144991545	1,12765	2141	4242	6383	SO:0001819	synonymous_variant	5339	21	121104	44				g.chr8:144991545C>T	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.12855G>A	chr8.hg19:g.144991545C>T		0					PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4116T	p.T4285T	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	13024	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.12855G>A	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	71		71	71	1	2.060000	-2.881946	1	0.170000	NM_000445			71	71		330	329	1		1	1		0	0	71	0		1	1	0	81	0	394	0	71	330
PLEC	5339	broad.mit.edu	37	8	144991599	144991599	+	Silent	SNP	C	C	T	rs200575172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000354958.2_Silent_p.T4108T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4267	Binding to intermediate filaments. {ECO:0000250}.|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)			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						ACTTGGAGGACGTCTTCCGCT	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.0	False		,,,				2504	0.001					ENST00000322810.4	1.000000	0.480000	8.900000e-01	6.000000e-01	0.730000	0.750069	0.730000	1.000000																										0				137						c.(12799-12801)acG>acA		plectin							60.0	66.0	64.0					8																	144991599		2104	4217	6321	SO:0001819	synonymous_variant	5339	14	121020	44				g.chr8:144991599C>T	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.12801G>A	chr8.hg19:g.144991599C>T		0					PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000398774.2_Silent_p.T4098T	p.T4267T	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	12970	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.12801G>A	CCDS43772.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	66		66	65	1	2.060000	-16.591070	1	0.170000	NM_000445			24	23		354	352	0		1	1		0	0	66	0		9.999997e-01	1	0	44	0	512	0	24	354
PLEC	5339	broad.mit.edu	37	8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4232	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)			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						GTTCTCCTCCGTGTTAGGGTC	0.607																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(12694-12696)aCg>aTg		plectin							60.0	66.0	64.0					8																	144991705		2095	4207	6302	SO:0001583	missense	5339	0	0					g.chr8:144991705G>A	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.12695C>T	chr8.hg19:g.144991705G>A	ENSP00000323856:p.Thr4232Met	0					PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M	p.T4232M	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	12864	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.12695C>T	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034364	0.35893	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.90896	0.7139	M	0.85630	2.765	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	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.92048	0.5646	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4122;4081;4073;4232;4063;4095;4099;4095	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4095;4099;4095;4063;4232;4073;4081;4122;4118	ENSP00000344848:T4095M;ENSP00000350277:T4099M;ENSP00000346602:T4095M;ENSP00000381756:T4063M;ENSP00000323856:T4232M;ENSP00000347044:T4073M;ENSP00000348702:T4081M;ENSP00000388180:T4122M;ENSP00000434583:T4118M	ENSP00000323856:T4232M	T	-	2	0	0	PLEC	145063693	145063693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.595000	0.98260	2.679000	0.91253	0.549000	0.68633	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	0	1		20	20	2	1		1	1	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_000445			96	96		423	415	1		1	1		1	0	82	0		1	1	0	98	0	414	0	96	423
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	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)			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						CCGGAGCAGGTTGTAGGTCTC	0.657																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998792	0.990000	1.000000																										0				137						c.(11401-11403)aAc>aGc		plectin							34.0	40.0	38.0					8																	144992998		2010	4159	6169	SO:0001583	missense	5339	1	120892	30				g.chr8:144992998T>C	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.11402A>G	chr8.hg19:g.144992998T>C	ENSP00000323856:p.Asn3801Ser	0					PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S	p.N3801S	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	11571	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.11402A>G	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	0	PLEC	145064986	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_000445			43	42		324	319	1		1	1		0	0	48	0		1	1	0	22	0	361	0	43	324
PLEC	5339	broad.mit.edu	37	8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3146	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)			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						CTCGGCTACGTCTCGCACAGA	0.667																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(9436-9438)gAc>gGc		plectin							24.0	28.0	27.0					8																	144994963		2064	4173	6237	SO:0001583	missense	5339	0	0					g.chr8:144994963T>C	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.9437A>G	chr8.hg19:g.144994963T>C	ENSP00000323856:p.Asp3146Gly	0					PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G	p.D3146G	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	9606	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.9437A>G	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478516	0.12521	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.083430	0.46145	U	0.000302	T	0.64294	0.2585	M	0.67953	2.075	0.29047	N	0.884764	B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.039;0.023;0.039;0.039;0.039;0.039	B;B;B;B;B;B;B;B	0.22152	0.031;0.038;0.038;0.014;0.038;0.031;0.031;0.031	T	0.60141	-0.7321	10	0.33940	T	0.23	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	3036;2995;2987;3146;2977;3009;3013;3009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	3009;3013;3009;2977;3146;2987;2995;3036;3032	ENSP00000344848:D3009G;ENSP00000350277:D3013G;ENSP00000346602:D3009G;ENSP00000381756:D2977G;ENSP00000323856:D3146G;ENSP00000347044:D2987G;ENSP00000348702:D2995G;ENSP00000388180:D3036G;ENSP00000434583:D3032G	ENSP00000323856:D3146G	D	-	2	0	0	PLEC	145066951	145066951	1.000000	0.71417	0.337000	0.25536	0.168000	0.22595	4.699000	0.61796	1.852000	0.53769	0.368000	0.22195	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	65		65	61	1	2.060000	-20.000000	1	0.170000	NM_000445			62	59		276	270	1		1	1		0	0	65	0		1	1	0	25	0	150	0	62	276
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2943	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)			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						TGGGCCTCCAGCAGGCGGATG	0.667																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(8827-8829)Ctg>Atg		plectin							45.0	50.0	48.0					8																	144995573		1991	4149	6140	SO:0001583	missense	5339	0	0					g.chr8:144995573G>T	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.8827C>A	chr8.hg19:g.144995573G>T	ENSP00000323856:p.Leu2943Met	0					PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M	p.L2943M	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	8996	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.8827C>A	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867622	0.32977	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.95	4.07	0.47477	4.95	4.07	0.47477	.	0.000000	0.52532	U	0.000073	D	0.96719	0.8929	M	0.86343	2.81	0.49051	D	0.999745	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97029	0.9749	10	0.72032	D	0.01	.	13.1119	0.59278	0.0792:0.0:0.9208:0.0	.	2833;2792;2784;2943;2774;2806;2810;2806	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2806;2810;2806;2774;2943;2784;2792;2833;2829	ENSP00000344848:L2806M;ENSP00000350277:L2810M;ENSP00000346602:L2806M;ENSP00000381756:L2774M;ENSP00000323856:L2943M;ENSP00000347044:L2784M;ENSP00000348702:L2792M;ENSP00000388180:L2833M;ENSP00000434583:L2829M	ENSP00000323856:L2943M	L	-	1	2	2	PLEC	145067561	145067561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.236000	0.43740	0.456000	0.33151	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000	NM_000445			110	106		536	526	0		1	1		0	0	97	0		1	1	0	25	0	104	0	110	536
PLEC	5339	broad.mit.edu	37	8	144995861	144995861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000354958.2_Silent_p.L2688L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2847	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)			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						TAAACACTCAGCTTCTCATTG	0.667																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(8539-8541)Ctg>Ttg		plectin							42.0	47.0	45.0					8																	144995861		2172	4265	6437	SO:0001819	synonymous_variant	5339	0	0					g.chr8:144995861G>A	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.8539C>T	chr8.hg19:g.144995861G>A		0					PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000398774.2_Silent_p.L2678L	p.L2847L	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	8708	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.8539C>T	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_000445			68	66		325	322	1		1	1		0	0	78	0		1	1	0	29	0	132	0	68	325
PLEC	5339	broad.mit.edu	37	8	144995928	144995928	+	Silent	SNP	G	G	A	rs542710594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000354958.2_Silent_p.D2665D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2824	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)			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						AGTGGCGCACGTCTTCCCGCC	0.667																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(8470-8472)gaC>gaT		plectin							34.0	37.0	36.0					8																	144995928		2166	4266	6432	SO:0001819	synonymous_variant	5339	3	121056	35				g.chr8:144995928G>A	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.8472C>T	chr8.hg19:g.144995928G>A		0					PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000398774.2_Silent_p.D2655D	p.D2824D	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		32	8641	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.8472C>T	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000	NM_000445			71	70		307	300	1		1	1		0	0	77	0		1	1	0	25	0	143	0	71	307
PLEC	5339	broad.mit.edu	37	8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2563	Central fibrous rod domain.				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)			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						GTCACCTTCTCCTGGGTGGCG	0.672																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999947	0.990000	1.000000																										0				137						c.(7687-7689)Gag>Tag		plectin							39.0	43.0	42.0					8																	144996821		2185	4279	6464	SO:0001587	stop_gained	5339	0	0					g.chr8:144996821C>A	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.7687G>T	chr8.hg19:g.144996821C>A	ENSP00000323856:p.Glu2563*	0					PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*	p.E2563*	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		31	7856	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	0	1	hg19	c.7687G>T	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	C	50	16.408845	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.167572	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	.	.	.	X	2426;2430;2426;2394;2563;2404;2412;2453;2449	.	ENSP00000323856:E2563X	E	-	1	0	0	PLEC	145068809	145068809	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	2.154000	0.42291	2.228000	0.72767	0.549000	0.68633	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_000445			26	25		124	120	1		1	1		0	0	33	0		9.999999e-01	1	0	25	0	161	0	26	124
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	rs62641756	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				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)			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						AAGATGAGTGCGCGGTTCTCA	0.642													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19154	0.0		0.0	False		,,,				2504	0.0					ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(7168-7170)Gca>Aca		plectin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	33,4355		0,33,2161	26.0	26.0	26.0		6757,6769,6757,6661,7168,6691,6715,6838	0.9	0.0	8	dbSNP_129	26	1,8583		0,1,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	58,58,58,58,58,58,58,58	0,34,6452	TT,TC,CC		0.0116,0.7521,0.2621	benign,benign,benign,benign,benign,benign,benign,benign	2253/4548,2257/4552,2253/4548,2221/4516,2390/4685,2231/4526,2239/4534,2280/4575	144997340	34,12938	2194	4292	6486	SO:0001583	missense	5339	136	121292	51				g.chr8:144997340C>T	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.7168G>A	chr8.hg19:g.144997340C>T	ENSP00000323856:p.Ala2390Thr	0					PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T	p.A2390T	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		31	7337	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.7168G>A	CCDS43772.1	1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	1.455	-0.564004	0.03939	0.007521	1.16E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.98;-0.98;-1.02;-1.01;-1.0;-0.98;-0.98;-0.98;-0.98	5.2	0.864	0.19068	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.53610	0.1807	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.004;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.39683	-0.9602	10	0.23302	T	0.38	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253T;ENSP00000350277:A2257T;ENSP00000346602:A2253T;ENSP00000381756:A2221T;ENSP00000323856:A2390T;ENSP00000347044:A2231T;ENSP00000348702:A2239T;ENSP00000388180:A2280T;ENSP00000434583:A2276T	ENSP00000323856:A2390T	A	-	1	0	0	PLEC	145069328	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	30		30	29	1	2.060000	-2.622791	1	0.170000	NM_000445			42	42		147	144	1		1	1		0	0	30	0		1	1	0	20	0	107	0	42	147
PLEC	5339	broad.mit.edu	37	8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2371	Central fibrous rod domain.				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)			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						ATCTGCACGCGCACCGAGAAG	0.642																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(7111-7113)Cgc>Tgc		plectin							25.0	26.0	26.0					8																	144997397		2186	4273	6459	SO:0001583	missense	5339	2	121194	31				g.chr8:144997397G>A	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.7111C>T	chr8.hg19:g.144997397G>A	ENSP00000323856:p.Arg2371Cys	0					PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C	p.R2371C	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		31	7280	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.7111C>T	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205970	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.15;-1.15;-1.18;-1.18;-1.16;-1.14;-1.21;-1.15;-1.15	5.11	4.14	0.48551	5.11	4.14	0.48551	.	0.099669	0.39341	U	0.001393	T	0.78246	0.4253	L	0.43923	1.385	0.50813	D	0.999893	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.736;0.549;0.736;0.736;0.736;0.736	T	0.80741	-0.1247	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.0:0.6987:0.3013	.	2261;2220;2212;2371;2202;2234;2238;2234	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2234;2238;2234;2202;2371;2212;2220;2261;2257	ENSP00000344848:R2234C;ENSP00000350277:R2238C;ENSP00000346602:R2234C;ENSP00000381756:R2202C;ENSP00000323856:R2371C;ENSP00000347044:R2212C;ENSP00000348702:R2220C;ENSP00000388180:R2261C;ENSP00000434583:R2257C	ENSP00000323856:R2371C	R	-	1	0	0	PLEC	145069385	145069385	0.962000	0.33011	0.983000	0.44433	0.044000	0.14063	3.072000	0.50049	2.372000	0.80975	0.549000	0.68633	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_000445			39	37		168	166	1		1	1		0	0	37	0		1	1	0	20	0	134	0	39	168
PLEC	5339	broad.mit.edu	37	8	144997698	144997698	+	Silent	SNP	C	C	T	rs375489890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000354958.2_Silent_p.A2111A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2270	Central fibrous rod domain.				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)			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						TCTCTGCAGCCGCCTGTGCCT	0.736																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				137						c.(6808-6810)gcG>gcA		plectin							8.0	10.0	10.0					8																	144997698		1961	4043	6004	SO:0001819	synonymous_variant	5339	16	118892	40				g.chr8:144997698C>T	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.6810G>A	chr8.hg19:g.144997698C>T		0					PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000398774.2_Silent_p.A2101A	p.A2270A	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		31	6979	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.6810G>A	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	NM_000445			30	29		132	131	0		1	1		0	0	21	0		1	6.360789e-01	0	2	0	9	0	30	132
PLEC	5339	broad.mit.edu	37	8	145004326	145004326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	ENST00000322810.4	-	21	3178	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1003	Globular 1.		Missing (in MD-EBS). {ECO:0000269|PubMed:8894687}.		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)			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						TGACGGCCTCCTGGGCCTCCT	0.726																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999797	0.990000	1.000000																										0				137						c.(3007-3009)caG>caT		plectin							6.0	8.0	7.0					8																	145004326		1962	4065	6027	SO:0001583	missense	5339	0	0					g.chr8:145004326C>A	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.3009G>T	chr8.hg19:g.145004326C>A	ENSP00000323856:p.Gln1003His	0					PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H	p.Q1003H	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		21	3178	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.3009G>T	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380272	0.24944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;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;-0.2	4.99	4.12	0.48240	4.99	4.12	0.48240	.	0.565461	0.15487	U	0.259768	T	0.45994	0.1370	N	0.22421	0.69	0.40742	D	0.98284	B;B;B;B;B;B;P;B	0.36392	0.253;0.253;0.253;0.164;0.253;0.253;0.551;0.253	B;B;B;B;B;B;B;B	0.28709	0.093;0.093;0.093;0.043;0.093;0.093;0.093;0.093	T	0.50516	-0.8819	10	0.72032	D	0.01	.	12.9958	0.58646	0.0:0.9202:0.0:0.0798	.	893;852;844;1003;834;866;870;866	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	866;870;866;834;1003;844;852;893;889	ENSP00000344848:Q866H;ENSP00000350277:Q870H;ENSP00000346602:Q866H;ENSP00000381756:Q834H;ENSP00000323856:Q1003H;ENSP00000347044:Q844H;ENSP00000348702:Q852H;ENSP00000388180:Q893H;ENSP00000434583:Q889H	ENSP00000323856:Q1003H	Q	-	3	2	2	PLEC	145076314	145076314	0.931000	0.31567	1.000000	0.80357	0.244000	0.25665	1.149000	0.31626	1.098000	0.41479	0.453000	0.30009	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_000445			14	14		42	40	0		1	1		0	0	19	0		9.998469e-01	9.999846e-01	0	7	0	65	0	14	42
PLEC	5339	broad.mit.edu	37	8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	673	Globular 1.				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)			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						CACACGGTGCTGGTTCTCCTC	0.672																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				137						c.(2017-2019)cAg>cCg		plectin							23.0	27.0	26.0					8																	145007091		2071	4208	6279	SO:0001583	missense	5339	0	0					g.chr8:145007091T>G	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.2018A>C	chr8.hg19:g.145007091T>G	ENSP00000323856:p.Gln673Pro	0					PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P	p.Q673P	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		14	2187	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.2018A>C	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665375	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000011	D	0.96605	0.8892	M	0.84082	2.675	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	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97195	0.9860	10	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.0:1.0	.	563;522;514;673;504;536;540;536	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	536;540;536;504;673;514;522;563;559;580	ENSP00000344848:Q536P;ENSP00000350277:Q540P;ENSP00000346602:Q536P;ENSP00000381756:Q504P;ENSP00000323856:Q673P;ENSP00000347044:Q514P;ENSP00000348702:Q522P;ENSP00000388180:Q563P;ENSP00000434583:Q559P;ENSP00000437303:Q580P	ENSP00000323856:Q673P	Q	-	2	0	0	PLEC	145079079	145079079	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.587000	0.67510	1.936000	0.56123	0.523000	0.50628	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_000445			35	34		153	152	1		1	1		0	0	37	0		1	1	0	24	0	117	0	35	153
PLEC	5339	broad.mit.edu	37	8	145007511	145007511	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000354958.2_Silent_p.R402R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	561	Globular 1.				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)			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						CAGCCAGCAGCCGGACATCCT	0.647																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(1681-1683)cgG>cgT		plectin							60.0	67.0	65.0					8																	145007511		2126	4232	6358	SO:0001819	synonymous_variant	5339	0	0					g.chr8:145007511C>A	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.1683G>T	chr8.hg19:g.145007511C>A		0					PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000398774.2_Silent_p.R392R	p.R561R	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		13	1852	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	1	1	hg19	c.1683G>T	CCDS43772.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_000445			63	63		307	305	1		1	1		0	0	81	0		1	1	0	36	0	102	0	63	307
PLEC	5339	broad.mit.edu	37	8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	515	Globular 1.				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)			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						TCCCGCTCCAGGATGGCCACG	0.652																																						ENST00000322810.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				137						c.(1543-1545)Ctg>Atg		plectin							37.0	42.0	40.0					8																	145008523		2081	4195	6276	SO:0001583	missense	5339	0	0					g.chr8:145008523G>T	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.1543C>A	chr8.hg19:g.145008523G>T	ENSP00000323856:p.Leu515Met	0					PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M	p.L515M	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		11	1712	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.1543C>A	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.891959	0.52014	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.46758	U	0.000264	D	0.96540	0.8871	M	0.75777	2.31	0.52099	D	0.999946	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.96942	0.9688	10	0.87932	D	0	.	17.9524	0.89057	0.0:0.0:1.0:0.0	.	405;364;356;515;346;378;382;378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	378;382;378;346;515;356;364;405;401;422	ENSP00000344848:L378M;ENSP00000350277:L382M;ENSP00000346602:L378M;ENSP00000381756:L346M;ENSP00000323856:L515M;ENSP00000347044:L356M;ENSP00000348702:L364M;ENSP00000388180:L405M;ENSP00000434583:L401M;ENSP00000437303:L422M	ENSP00000323856:L515M	L	-	1	2	2	PLEC	145080511	145080511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.542000	0.85734	0.645000	0.84053	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_000445			52	52		248	242	1		1	1		0	0	74	0		1	1	0	17	0	140	0	52	248
PLEC	5339	broad.mit.edu	37	8	145024727	145024727	+	Missense_Mutation	SNP	G	G	A	rs371156105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	ENST00000322810.4	-	1	317	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	50	Globular 1.				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)			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						GCCATGGCACGCATGACCTGC	0.667																																						ENST00000322810.4	1.000000	0.510000	1	7.400000e-01	0.990000	0.908710	0.990000	1.000000																										0				137						c.(148-150)Cgt>Tgt		plectin		G	,,,CYS/ARG	0,4160		0,0,2080	19.0	26.0	24.0		,,,148	0.9	0.5	8		24	2,8388		0,2,4193	no	intron,intron,intron,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2	,,,180	0,2,6273	AA,AG,GG		0.0238,0.0,0.0159	,,,benign	,,,50/4685	145024727	2,12548	2080	4195	6275	SO:0001583	missense	5339	7	120292	34				g.chr8:145024727G>A	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.148C>T	chr8.hg19:g.145024727G>A	ENSP00000323856:p.Arg50Cys	0					PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	p.R50C	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		1	317	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	0	1	hg19	c.148C>T	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	g	9.296	1.051834	0.19827	0.0	2.38E-4	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	0.952	0.19584	4.9	0.952	0.19584	Plectin/S10, N-terminal (1);	0.000000	0.43260	U	0.000591	T	0.51041	0.1651	N	0.04508	-0.205	0.32630	N	0.522118	B	0.19935	0.04	B	0.16289	0.015	T	0.46582	-0.9181	10	0.87932	D	0	.	4.7403	0.13010	0.1569:0.0:0.4131:0.4299	.	50	Q15149	PLEC_HUMAN	C	50	ENSP00000323856:R50C	ENSP00000323856:R50C	R	-	1	0	0	PLEC	145096715	145096715	0.003000	0.15002	0.502000	0.27614	0.510000	0.34073	0.452000	0.21795	-0.126000	0.11682	-1.008000	0.02478	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-13.412040	1	0.170000	NM_000445			8	7		80	78	0		1	1		0	0	13	0		9.890257e-01	4.072470e-01	0	2	0	12	0	8	80
PLEC	5339	broad.mit.edu	37	8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				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)			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						GTGCAAGCTGCGGGGCCGCCG	0.692																																						ENST00000322810.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996154	0.990000	1.000000																										0				137						c.(100-102)cGc>cAc		plectin							11.0	15.0	14.0					8																	145024774		2075	4178	6253	SO:0001583	missense	5339	0	0					g.chr8:145024774C>T	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.101G>A	chr8.hg19:g.145024774C>T	ENSP00000323856:p.Arg34His	0					PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	p.R34H	NM_201380.2	NP_958782.1	0	0	0	1.973482	Q15149	PLEC_HUMAN		1	270	-			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	1	1	hg19	c.101G>A	CCDS43772.1	1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986930	0.35036	.	.	ENSG00000178209	ENST00000322810	T	0.76578	-1.03	4.9	1.53	0.23141	4.9	1.53	0.23141	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.57169	0.2035	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.50668	-0.8801	10	0.72032	D	0.01	.	2.9172	0.05756	0.0:0.4038:0.2297:0.3665	.	34	Q15149	PLEC_HUMAN	H	34	ENSP00000323856:R34H	ENSP00000323856:R34H	R	-	2	0	0	PLEC	145096762	145096762	0.998000	0.40836	0.972000	0.41901	0.380000	0.30137	1.319000	0.33655	0.455000	0.26910	0.563000	0.77884	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0		2	2	2	0		0	0	17		17	16	1	2.060000	-19.997600	1	0.170000	NM_000445			13	13		72	72	0		1	0		0	0	17	0		9.996792e-01	3.750164e-01	0	0	0	8	0	13	72
PARP10	84875	broad.mit.edu	37	8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000313028.7	-	8	2183	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	697	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667																																						ENST00000313028.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				27						c.(2089-2091)Gag>Tag		poly (ADP-ribose) polymerase family, member 10							12.0	13.0	13.0					8																	145057668		2198	4295	6493	SO:0001587	stop_gained	84875	0	0					g.chr8:145057668C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2089G>T	chr8.hg19:g.145057668C>A	ENSP00000325618:p.Glu697*	0					PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*	p.E697*	NM_032789.3	NP_116178.2	0	0	0	1.973482	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	8	2183	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	ENST00000313028.7	0	1	hg19	c.2089G>T	CCDS34960.1	1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675280	0.67928	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.04	2.14	0.27477	4.04	2.14	0.27477	.	0.750699	0.11574	N	0.550478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.8845	0.13696	0.0:0.6573:0.2226:0.1201	.	.	.	.	X	688;403;697;709	.	ENSP00000325618:E697X	E	-	1	0	0	PARP10	145129656	145129656	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	0.905000	0.28504	1.011000	0.39340	0.639000	0.83563	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_032789			19	18		60	59	1		1	1		0	0	10	0		9.999955e-01	1	0	7	0	127	0	19	60
SPATC1	375686	broad.mit.edu	37	8	145095869	145095869	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	389						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612																																						ENST00000377470.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1165-1167)ccA>ccG		spermatogenesis and centriole associated 1							222.0	96.0	139.0					8																	145095869		2202	4299	6501	SO:0001819	synonymous_variant	375686	0	0					g.chr8:145095869A>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1167A>G	chr8.hg19:g.145095869A>G		0					SPATC1_ENST00000447830.2_Silent_p.P389P	p.P389P	NM_198572.2	NP_940974.2	0	0	0	1.973482	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	3	1269	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	1	1	hg19	c.1167A>G	CCDS6413.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-3.449431	1	0.170000	NM_198572			77	69		336	327	1		1	0		0	0	95	0		1	0	0	0	0	1	0	77	336
OPLAH	26873	broad.mit.edu	37	8	145109470	145109470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	ENST00000426825.1	-	19	2761	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	894					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACCCTCCTCCTGGAAGACG	0.647																																						ENST00000426825.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				20						c.(2680-2682)Gag>Aag		5-oxoprolinase (ATP-hydrolysing)							32.0	36.0	35.0					8																	145109470		1992	4160	6152	SO:0001583	missense	26873	0	0					g.chr8:145109470C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2680G>A	chr8.hg19:g.145109470C>T	ENSP00000475943:p.Glu894Lys	0					OPLAH_ENST00000534424.1_5'UTR	p.E894K	NM_017570.3	NP_060040.1	0	0	0	1.973482	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	19	2761	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	0	1	hg19	c.2680G>A		1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637608	0.47049	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	.	.	.	0.53688	D	0.999972	D	0.76494	0.999	D	0.69479	0.964	T	0.83160	-0.0099	7	0.87932	D	0	.	15.9917	0.80211	0.0:1.0:0.0:0.0	.	894	O14841	OPLA_HUMAN	K	894	.	ENSP00000412071:E894K	E	-	1	0	0	OPLAH	145181458	145181458	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.021000	0.76425	2.387000	0.81309	0.563000	0.77884	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_017570			23	23		102	101	0		1	1		0	0	25	0		9.999997e-01	9.996087e-01	0	21	0	39	0	23	102
OPLAH	26873	broad.mit.edu	37	8	145111082	145111082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	ENST00000426825.1	-	15	2145	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	688					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGCCCATGGAGCTTGTGCC	0.642																																						ENST00000426825.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2062-2064)ctC>ctT		5-oxoprolinase (ATP-hydrolysing)							60.0	66.0	64.0					8																	145111082		2010	4165	6175	SO:0001819	synonymous_variant	26873	0	0					g.chr8:145111082G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2064C>T	chr8.hg19:g.145111082G>A		0					OPLAH_ENST00000534424.1_5'UTR	p.L688L	NM_017570.3	NP_060040.1	0	0	0	1.973482	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	15	2145	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	0	1	hg19	c.2064C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.170727	1	0.170000	NM_017570			60	59		299	297	0		1	1		0	0	82	0		1	9.925013e-01	0	11	0	29	0	60	299
OPLAH	26873	broad.mit.edu	37	8	145112597	145112597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	ENST00000426825.1	-	10	1257	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	392					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATTAGCATCCGTCACTGTCA	0.647																																						ENST00000426825.1	1.000000	0.710000	1	9.100000e-01	0.990000	0.966405	0.990000	1.000000																										0				20						c.(1174-1176)acG>acA		5-oxoprolinase (ATP-hydrolysing)							18.0	22.0	20.0					8																	145112597		2007	4142	6149	SO:0001819	synonymous_variant	26873	4	120546	31				g.chr8:145112597C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1176G>A	chr8.hg19:g.145112597C>T		0					OPLAH_ENST00000534424.1_5'UTR	p.T392T	NM_017570.3	NP_060040.1	0	0	0	1.973482	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	10	1257	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	0	1	hg19	c.1176G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-2.744842	1	0.170000	NM_017570			18	18		163	157	0		1	1		0	0	34	0		9.999816e-01	8.688581e-01	0	8	0	27	0	18	163
OPLAH	26873	broad.mit.edu	37	8	145114642	145114642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	ENST00000426825.1	-	3	304	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	75					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGATGCTGGCGATATGACTG	0.687																																						ENST00000426825.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(223-225)Gcc>Acc		5-oxoprolinase (ATP-hydrolysing)							26.0	33.0	30.0					8																	145114642		2171	4254	6425	SO:0001583	missense	26873	1	121052	32				g.chr8:145114642C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.223G>A	chr8.hg19:g.145114642C>T	ENSP00000475943:p.Ala75Thr	0					OPLAH_ENST00000534424.1_5'UTR	p.A75T	NM_017570.3	NP_060040.1	0	0	0	1.973482	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	3	304	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	0	1	hg19	c.223G>A		1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850511	0.32699	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.111520	0.64402	D	0.000012	T	0.50137	0.1598	.	.	.	0.28467	N	0.915628	P	0.35192	0.489	B	0.31495	0.131	T	0.63129	-0.6706	7	0.48119	T	0.1	.	16.3018	0.82820	0.0:1.0:0.0:0.0	.	75	O14841	OPLA_HUMAN	T	75	.	ENSP00000412071:A75T	A	-	1	0	0	OPLAH	145186630	145186630	1.000000	0.71417	0.950000	0.38849	0.271000	0.26615	5.497000	0.66924	2.450000	0.82876	0.462000	0.41574	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-20.000000	1	0.170000	NM_017570			38	35		153	146	0		1	1		0	0	29	0		1	9.977564e-01	0	13	0	28	0	38	153
OPLAH	26873	broad.mit.edu	37	8	145114814	145114814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	ENST00000426825.1	-	2	203	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	41					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCATAGTTGGCAGGGTCCTC	0.657																																						ENST00000426825.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(121-123)gCc>gAc		5-oxoprolinase (ATP-hydrolysing)							38.0	44.0	42.0					8																	145114814		1959	4125	6084	SO:0001583	missense	26873	0	0					g.chr8:145114814G>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.122C>A	chr8.hg19:g.145114814G>T	ENSP00000475943:p.Ala41Asp	0					OPLAH_ENST00000534424.1_5'UTR	p.A41D	NM_017570.3	NP_060040.1	0	0	0	1.973482	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	2	203	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	0	1	hg19	c.122C>A		1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257038	0.22965	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.110427	0.64402	D	0.000008	T	0.60805	0.2297	.	.	.	0.40538	D	0.980995	P	0.38473	0.633	P	0.49853	0.624	T	0.57476	-0.7805	7	0.15952	T	0.53	.	16.3018	0.82820	0.0:0.0:1.0:0.0	.	41	O14841	OPLA_HUMAN	D	41	.	ENSP00000412071:A41D	A	-	2	0	0	OPLAH	145186802	145186802	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.875000	0.69660	2.450000	0.82876	0.462000	0.41574	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_017570			53	51		256	252	0		1	1		0	0	59	0		1	9.951409e-01	0	19	0	23	0	53	256
CYC1	1537	broad.mit.edu	37	8	145151980	145151980	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	272					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572																																						ENST00000318911.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998829	0.990000	1.000000																										0				15						c.(814-816)acC>acA		cytochrome c-1							80.0	53.0	62.0					8																	145151980		2201	4300	6501	SO:0001819	synonymous_variant	1537	0	0					g.chr8:145151980C>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.816C>A	chr8.hg19:g.145151980C>A		0					SHARPIN_ENST00000533948.1_5'Flank	p.T272T	NM_001916.3	NP_001907	0	0	0	1.973482	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)	6	889	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	1	1	hg19	c.816C>A	CCDS6415.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-19.999130	1	0.170000	NM_001916			12	12		47	47	1		1	1		0	0	22	0		9.994551e-01	1	0	208	0	512	0	12	47
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000528838.1	+	4	646	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_ENST00000400780.4_Silent_p.K97K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647																																						ENST00000528838.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999970	0.990000	1.000000																										0				11						c.(484-486)aaG>aaA		heat shock transcription factor 1							61.0	63.0	62.0					8																	145533580		2203	4296	6499	SO:0001819	synonymous_variant	3297	0	0					g.chr8:145533580G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.486G>A	chr8.hg19:g.145533580G>A		0					HSF1_ENST00000400780.4_Silent_p.K97K	p.K162K	NM_005526.2	NP_005517.1	0	0	0	1.973482	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)	4	646	+	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)		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	1	1	hg19	c.486G>A	CCDS6419.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_005526			33	31		174	170	0		1	1		0	0	43	0		1	1	0	59	0	178	0	33	174
DGAT1	8694	broad.mit.edu	37	8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DGAT1_ENST00000531896.1_Silent_p.P280P|DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	250					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632																																						ENST00000332324.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				9						c.(748-750)cGc>cAc		diacylglycerol O-acyltransferase 1							57.0	60.0	59.0					8																	145541760		2203	4296	6499	SO:0001583	missense	8694	3	120422	38				g.chr8:145541760C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.749G>A	chr8.hg19:g.145541760C>T	ENSP00000332258:p.Arg250His	0					GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000531896.1_Silent_p.P280P|DGAT1_ENST00000527438.1_5'Flank	p.R250H	NM_012079.4	NP_036211.2	0	0	0	1.973482	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)	8	1022	-	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)		B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	1	1	hg19	c.749G>A	CCDS6420.1	1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214885	0.39102	.	.	ENSG00000185000	ENST00000332324	T	0.73047	-0.71	4.68	1.75	0.24633	4.68	1.75	0.24633	.	0.442530	0.22651	N	0.057328	T	0.67841	0.2936	L	0.52364	1.645	0.47123	D	0.999321	D	0.55605	0.972	P	0.51833	0.681	T	0.64424	-0.6411	10	0.46703	T	0.11	-5.946	6.3125	0.21173	0.0:0.6649:0.1536:0.1815	.	250	O75907	DGAT1_HUMAN	H	250	ENSP00000332258:R250H	ENSP00000332258:R250H	R	-	2	0	0	DGAT1	145512568	145512568	0.152000	0.22762	0.078000	0.20375	0.589000	0.36550	0.550000	0.23345	0.554000	0.29061	0.484000	0.47621	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	1	0	0		2	2	2	0		0	0	73		73	72	1	2.060000	-3.222226	1	0.170000	NM_012079			52	51		328	323	1		1	1		0	0	73	0		1	1	0	120	0	192	0	52	328
DGAT1	8694	broad.mit.edu	37	8	145542724	145542724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	ENST00000332324.4	-	3	569	c.296G>A	c.(295-297)aGc>aAc	p.S99N	DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	99					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGGGCATTGCTCAAGATCTG	0.632																																						ENST00000332324.4	1.000000	0.440000	1	8.000000e-01	0.990000	0.926773	0.990000	1.000000																										0				9						c.(295-297)aGc>aAc		diacylglycerol O-acyltransferase 1							53.0	40.0	45.0					8																	145542724		2163	4255	6418	SO:0001583	missense	8694	0	0					g.chr8:145542724C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.296G>A	chr8.hg19:g.145542724C>T	ENSP00000332258:p.Ser99Asn	0					DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N|DGAT1_ENST00000527438.1_5'Flank	p.S99N	NM_012079.4	NP_036211.2	0	0	0	1.973482	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)	3	569	-	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)		B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	0	1	hg19	c.296G>A	CCDS6420.1	1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.521504	0.85600	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T;T	0.30981	1.51;1.51	5.32	4.38	0.52667	5.32	4.38	0.52667	.	0.097011	0.64402	D	0.000002	T	0.55000	0.1893	M	0.81497	2.545	0.42564	D	0.993158	D;D	0.89917	1.0;0.998	D;D	0.76071	0.987;0.931	T	0.58025	-0.7709	10	0.49607	T	0.09	-18.8333	12.4498	0.55671	0.1683:0.8317:0.0:0.0	.	99;99	E9PS80;O75907	.;DGAT1_HUMAN	N	99	ENSP00000332258:S99N;ENSP00000432795:S99N	ENSP00000332258:S99N	S	-	2	0	0	DGAT1	145513532	145513532	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.314000	0.51943	2.504000	0.84457	0.556000	0.70494	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-9.003031	1	0.170000	NM_012079			3	3		18	18	0		1	1		0	0	9	0		8.130590e-01	9.995760e-01	0	71	0	118	0	3	18
CPSF1	29894	broad.mit.edu	37	8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1046					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(3136-3138)Cgc>Tgc		cleavage and polyadenylation specific factor 1, 160kDa							59.0	58.0	58.0					8																	145620531		2203	4300	6503	SO:0001583	missense	29894	0	0					g.chr8:145620531G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3136C>T	chr8.hg19:g.145620531G>A	ENSP00000339353:p.Arg1046Cys	0					MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	p.R1046C	NM_013291.2	NP_037423.2	0	0	0	1.973482	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)	28	3230	-	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)		Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	1	1	hg19	c.3136C>T	CCDS34966.1	1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	4.54	3.63	0.41609	4.54	3.63	0.41609	.	0.122857	0.52532	D	0.000061	T	0.53400	0.1794	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.53244	-0.8466	10	0.48119	T	0.1	-10.8279	11.225	0.48877	0.0:0.0:0.8083:0.1917	.	1046	Q10570	CPSF1_HUMAN	C	1046	ENSP00000339353:R1046C	ENSP00000339353:R1046C	R	-	1	0	0	CPSF1	145591339	145591339	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	5.773000	0.68898	1.069000	0.40788	0.561000	0.74099	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.553095	1	0.170000	NM_013291			39	39		143	141	1		1	1		0	0	40	0		1	1	0	32	0	119	0	39	143
CPSF1	29894	broad.mit.edu	37	8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	591					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3	1.000000	0.860000	1	9.600000e-01	0.990000	0.986194	0.990000	1.000000																										0				38						c.(1771-1773)gaG>gaT		cleavage and polyadenylation specific factor 1, 160kDa							83.0	89.0	87.0					8																	145623813		2203	4300	6503	SO:0001583	missense	29894	0	0					g.chr8:145623813C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1773G>T	chr8.hg19:g.145623813C>A	ENSP00000339353:p.Glu591Asp	0					MIR1234_ENST00000408875.1_RNA	p.E591D	NM_013291.2	NP_037423.2	0	0	0	1.973482	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)	19	1867	-	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)		Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	1	1	hg19	c.1773G>T	CCDS34966.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419153	0.83559	.	.	ENSG00000071894	ENST00000349769	T	0.54675	0.56	5.65	3.86	0.44501	5.65	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49350	1.555	0.53005	D	0.999964	P	0.47604	0.898	P	0.53722	0.733	T	0.48115	-0.9063	10	0.30854	T	0.27	-9.2522	7.7805	0.29062	0.0:0.7454:0.0:0.2546	.	591	Q10570	CPSF1_HUMAN	D	591	ENSP00000339353:E591D	ENSP00000339353:E591D	E	-	3	2	2	CPSF1	145594621	145594621	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.540000	0.45727	0.742000	0.32697	0.655000	0.94253	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	0		2	2	2	0		0	0	144		144	140	1	2.060000	-19.964130	1	0.170000	NM_013291			78	76		757	746	1		1	1		0	0	144	0		1	9.999105e-01	0	14	0	115	0	78	757
CPSF1	29894	broad.mit.edu	37	8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	242					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(724-726)Gcc>Tcc		cleavage and polyadenylation specific factor 1, 160kDa							103.0	100.0	101.0					8																	145625850		2203	4300	6503	SO:0001583	missense	29894	0	0					g.chr8:145625850C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.724G>T	chr8.hg19:g.145625850C>A	ENSP00000339353:p.Ala242Ser	0					MIR1234_ENST00000408875.1_RNA	p.A242S	NM_013291.2	NP_037423.2	0	0	0	1.973482	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)	8	818	-	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)		Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	1	1	hg19	c.724G>T	CCDS34966.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.167240	0.94768	.	.	ENSG00000071894	ENST00000349769	T	0.24350	1.86	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.991;0.994;0.988	T	0.61618	-0.7026	10	0.66056	D	0.02	-15.0396	17.2687	0.87095	0.0:1.0:0.0:0.0	.	242;164;242	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	242	ENSP00000339353:A242S	ENSP00000339353:A242S	A	-	1	0	0	CPSF1	145596658	145596658	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.771000	0.55318	2.686000	0.91538	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_013291			80	80		446	441	1		1	1		0	0	82	0		1	9.999739e-01	0	23	0	63	0	80	446
SLC39A4	55630	broad.mit.edu	37	8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000301305.3	-	10	1699	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000276833.5_Missense_Mutation_p.A507T	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	532					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)			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)			CAGAACACGGCCAGCGAGGTG	0.711																																						ENST00000301305.3	1.000000	0.720000	1	9.900000e-01	0.990000	0.978550	0.990000	1.000000																										0				14						c.(1594-1596)Gcc>Acc		solute carrier family 39 (zinc transporter), member 4							8.0	11.0	10.0					8																	145638654		2159	4234	6393	SO:0001583	missense	55630	0	0					g.chr8:145638654C>T	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.1594G>A	chr8.hg19:g.145638654C>T	ENSP00000301305:p.Ala532Thr	0					SLC39A4_ENST00000276833.5_Missense_Mutation_p.A507T|SLC39A4_ENST00000531013.1_5'UTR	p.A532T	NM_130849.2	NP_570901	0	0	0	1.973482	Q6P5W5	S39A4_HUMAN	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)	10	1699	-	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)		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	0	1	hg19	c.1594G>A	CCDS6424.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.018510	0.97205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.68331	-0.32;-0.32	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.053289	0.85682	D	0.000000	T	0.79919	0.4529	M	0.66297	2.02	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	T	0.82608	-0.0373	10	0.87932	D	0	-24.9186	14.9999	0.71464	0.0:1.0:0.0:0.0	.	532;507;532	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	T	507;532	ENSP00000276833:A507T;ENSP00000301305:A532T	ENSP00000276833:A507T	A	-	1	0	0	SLC39A4	145609462	145609462	1.000000	0.71417	0.992000	0.48379	0.872000	0.50106	5.674000	0.68117	2.126000	0.65437	0.456000	0.33151	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-16.603050	1	0.170000				9	9		61	58	0		1	1		0	0	10	0		9.941770e-01	9.917340e-01	0	36	0	26	0	9	61
SLC39A4	55630	broad.mit.edu	37	8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000301305.3	-	5	1037	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Missense_Mutation_p.S286Y	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	311					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)			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)			CCTGGACTGGGAGGTGCAGGC	0.657																																						ENST00000301305.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(931-933)tCc>tAc		solute carrier family 39 (zinc transporter), member 4							43.0	46.0	45.0					8																	145640153		2203	4300	6503	SO:0001583	missense	55630	0	0					g.chr8:145640153G>T	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.932C>A	chr8.hg19:g.145640153G>T	ENSP00000301305:p.Ser311Tyr	0					SLC39A4_ENST00000276833.5_Missense_Mutation_p.S286Y|SLC39A4_ENST00000531013.1_5'Flank	p.S311Y	NM_130849.2	NP_570901	0	0	0	1.973482	Q6P5W5	S39A4_HUMAN	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)	5	1037	-	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)		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	1	1	hg19	c.932C>A	CCDS6424.1	1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397820	0.25205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61859	0.07;0.24	4.98	4.1	0.47936	4.98	4.1	0.47936	.	1.088530	0.06917	N	0.808769	T	0.50990	0.1648	L	0.34521	1.04	0.09310	N	1	B;P	0.51653	0.012;0.947	B;P	0.47744	0.006;0.556	T	0.16748	-1.0392	10	0.06365	T	0.9	-17.042	11.0603	0.47944	0.0926:0.0:0.9074:0.0	.	311;286	Q6P5W5;A6NDY5	S39A4_HUMAN;.	Y	286;311	ENSP00000276833:S286Y;ENSP00000301305:S311Y	ENSP00000276833:S286Y	S	-	2	0	0	SLC39A4	145610961	145610961	0.000000	0.05858	0.255000	0.24374	0.009000	0.06853	0.145000	0.16157	1.115000	0.41800	0.543000	0.68304	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1	1	0	1		2	2	2	0		0	0	71		71	68	1	2.060000	-3.230008	1	0.170000				70	69		367	359	1		1	1		0	0	71	0		1	9.831502e-01	0	19	0	17	0	70	367
SLC39A4	55630	broad.mit.edu	37	8	145641572	145641572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000301305.3_Intron	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					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)			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)			TTTCCCTTTCAAGTCCAACAA	0.672																																						ENST00000276833.5	1.000000	0.650000	1	9.500000e-01	0.990000	0.967017	0.990000	1.000000																										0				14						c.(19-21)ctT>ctC		solute carrier family 39 (zinc transporter), member 4							29.0	36.0	34.0					8																	145641572		2009	4165	6174	SO:0001819	synonymous_variant	55630	0	0					g.chr8:145641572A>G	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		ENST00000276833.5:c.21T>C	chr8.hg19:g.145641572A>G		0					SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	p.L7L	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	0	0	0	1.973482	Q6P5W5	S39A4_HUMAN	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)	1	324	-	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)		Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000276833.5	0	1	hg19	c.21T>C	CCDS43782.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-16.795450	1	0.170000				7	7		48	48	1		1	1		0	0	12	0		9.830393e-01	5.404722e-01	0	8	0	5	0	7	48
PPP1R16A	84988	broad.mit.edu	37	8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	88						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652																																						ENST00000292539.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997948	0.990000	1.000000																										0				8						c.(262-264)Cgc>Tgc		protein phosphatase 1, regulatory subunit 16A							49.0	48.0	48.0					8																	145724155		2202	4300	6502	SO:0001583	missense	84988	1	121312	31				g.chr8:145724155C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.262C>T	chr8.hg19:g.145724155C>T	ENSP00000292539:p.Arg88Cys	0					CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C	p.R88C			0	0	0	1.973482	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	3	1179	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	1	1	hg19	c.262C>T	CCDS6429.1	1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688159	0.29962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.67345	-0.26;-0.26	4.65	2.82	0.32997	4.65	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.199760	0.40302	N	0.001134	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	B	0.25351	0.124	B	0.27170	0.077	T	0.61969	-0.6953	10	0.48119	T	0.1	.	8.275	0.31866	0.0:0.8035:0.0:0.1965	.	88	Q96I34	PP16A_HUMAN	C	88	ENSP00000292539:R88C;ENSP00000391126:R88C	ENSP00000292539:R88C	R	+	1	0	0	PPP1R16A	145694963	145694963	0.005000	0.15991	0.996000	0.52242	0.385000	0.30292	0.365000	0.20348	1.095000	0.41419	0.462000	0.41574	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	0	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-3.222116	1	0.170000	NM_032902			31	31		225	222	1		1	1		0	0	43	0		1	9.998045e-01	0	34	0	64	0	31	225
PPP1R16A	84988	broad.mit.edu	37	8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	171						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657																																						ENST00000292539.4	1.000000	0.730000	1	9.900000e-01	0.990000	0.977297	0.990000	1.000000																										0				8						c.(511-513)aAc>aCc		protein phosphatase 1, regulatory subunit 16A							123.0	78.0	93.0					8																	145725514		2200	4299	6499	SO:0001583	missense	84988	0	0					g.chr8:145725514A>C		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.512A>C	chr8.hg19:g.145725514A>C	ENSP00000292539:p.Asn171Thr	0					CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|GPT_ENST00000528431.1_5'Flank	p.N171T			0	0	0	1.973482	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	5	1429	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	0	1	hg19	c.512A>C	CCDS6429.1	1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765820	0.90020	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53640	0.61;0.61	5.26	5.26	0.73747	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56238	-0.8012	10	0.41790	T	0.15	.	13.1298	0.59375	1.0:0.0:0.0:0.0	.	171	Q96I34	PP16A_HUMAN	T	171	ENSP00000292539:N171T;ENSP00000391126:N171T	ENSP00000292539:N171T	N	+	2	0	0	PPP1R16A	145696322	145696322	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.221000	0.58574	1.996000	0.58369	0.459000	0.35465	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-18.349970	1	0.170000	NM_032902			11	11		82	81	1		1	1		0	0	16	0		9.985921e-01	9.824865e-01	0	19	0	36	0	11	82
GPT	2875	broad.mit.edu	37	8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000528431.1	+	2	290	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000394955.2_Missense_Mutation_p.A45S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	45					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	AGTGCAGCGAGCCTTGGAGCT	0.682																																						ENST00000528431.1	1.000000	0.400000	1	5.700000e-01	0.770000	0.776325	0.770000	1.000000																										0				5						c.(133-135)Gcc>Tcc		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|Phenelzine(DB00780)						89.0	77.0	81.0					8																	145729820		2201	4297	6498	SO:0001583	missense	2875	0	0					g.chr8:145729820G>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.133G>T	chr8.hg19:g.145729820G>T	ENSP00000433586:p.Ala45Ser	0					GPT_ENST00000394955.2_Missense_Mutation_p.A45S	p.A45S			0	0	0	1.973482	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	2	290	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	1	1	hg19	c.133G>T	CCDS6430.1	0	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672382	0.88348	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.45668	0.89;0.89	5.04	4.1	0.47936	5.04	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.48260	1.515	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.87578	0.998;0.839	T	0.56944	-0.7895	10	0.62326	D	0.03	-27.8924	12.9533	0.58413	0.0:0.1643:0.8357:0.0	.	45;45	B4DPT5;P24298	.;ALAT1_HUMAN	S	45	ENSP00000433586:A45S;ENSP00000378408:A45S	ENSP00000378408:A45S	A	+	1	0	0	GPT	145700628	145700628	0.867000	0.29959	0.927000	0.36925	0.861000	0.49209	4.128000	0.57951	2.519000	0.84933	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-14.757520	1	0.170000				10	10		141	140	0		1	1		0	0	37	0		9.970929e-01	6.033780e-01	0	6	0	23	0	10	141
RECQL4	9401	broad.mit.edu	37	8	145740380	145740380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	ENST00000428558.2	-	9	1601	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	520	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)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGCGCCGGCTGTAGAGCA	0.652			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													ENST00000428558.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000			yes	Rec		Rothmund-Thompson Syndrome	yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	8q24.3	9401	N, F, S	RecQ protein-like 4				M	M		osteosarcoma, skin basal and sqamous cell			0				26						c.(1558-1560)agC>agT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							20.0	25.0	23.0					8																	145740380		2142	4248	6390	SO:0001819	synonymous_variant	9401	0	0		Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	g.chr8:145740380G>A	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1560C>T	chr8.hg19:g.145740380G>A		0					CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	p.S520S	NM_004260.3	NP_004251.3	0	0	0	1.973482	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	9	1601	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	0	1	hg19	c.1560C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_004260			23	23		78	75	0		1	1		0	0	26	0		9.999997e-01	9.166999e-01	0	9	0	8	0	23	78
LRRC14	9684	broad.mit.edu	37	8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637																																						ENST00000292524.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				5						c.(220-222)Gcc>Acc		leucine rich repeat containing 14							68.0	68.0	68.0					8																	145745329		2203	4300	6503	SO:0001583	missense	9684	0	0					g.chr8:145745329G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.220G>A	chr8.hg19:g.145745329G>A	ENSP00000292524:p.Ala74Thr	0					LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	0	0	0	1.973482	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	2	366	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	1	1	hg19	c.220G>A	CCDS6432.1	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712850	0.30413	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.45668	2.26;5.06;5.06;0.9;0.89	3.95	3.04	0.35103	3.95	3.04	0.35103	.	0.430073	0.20711	N	0.087082	T	0.28699	0.0711	L	0.29908	0.895	0.31265	N	0.692394	B	0.25312	0.123	B	0.24974	0.057	T	0.22277	-1.0221	10	0.31617	T	0.26	.	9.7436	0.40433	0.1093:0.0:0.8907:0.0	.	74	Q15048	LRC14_HUMAN	T	74	ENSP00000436452:A74T;ENSP00000434768:A74T;ENSP00000292524:A74T;ENSP00000435985:A74T;ENSP00000434738:A74T	ENSP00000292524:A74T	A	+	1	0	0	LRRC14	145716137	145716137	0.178000	0.23122	0.996000	0.52242	0.939000	0.58152	1.659000	0.37387	2.052000	0.61016	0.462000	0.41574	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_014665			60	58		348	344	1		1	1		0	0	83	0		1	9.916021e-01	0	20	0	25	0	60	348
LRRC14	9684	broad.mit.edu	37	8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711																																						ENST00000292524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(535-537)gCg>gTg		leucine rich repeat containing 14							43.0	50.0	48.0					8																	145745828		2203	4297	6500	SO:0001583	missense	9684	4	120752	34				g.chr8:145745828C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.536C>T	chr8.hg19:g.145745828C>T	ENSP00000292524:p.Ala179Val	0					LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	0	0	0	1.973482	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	3	682	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	1	1	hg19	c.536C>T	CCDS6432.1	1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573505	0.13623	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18016	2.24;5.04;5.04	4.27	2.36	0.29203	4.27	2.36	0.29203	.	0.568408	0.17745	N	0.163439	T	0.09818	0.0241	N	0.20986	0.625	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.16100	-1.0414	10	0.32370	T	0.25	.	6.8223	0.23864	0.1783:0.4989:0.3228:0.0	.	179	Q15048	LRC14_HUMAN	V	179	ENSP00000436452:A179V;ENSP00000434768:A179V;ENSP00000292524:A179V	ENSP00000292524:A179V	A	+	2	0	0	LRRC14	145716636	145716636	0.000000	0.05858	0.007000	0.13788	0.100000	0.18952	0.728000	0.26013	2.219000	0.72066	0.462000	0.41574	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1		2	2	2	0		0	0	102		102	100	1	2.060000	-20.000000	1	0.170000	NM_014665			87	86		487	475	1		1	0		0	0	102	0		1	5.166566e-01	0	1	0	10	0	87	487
LRRC14	9684	broad.mit.edu	37	8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642																																						ENST00000292524.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(736-738)cGc>cAc		leucine rich repeat containing 14							48.0	50.0	49.0					8																	145746029		2203	4299	6502	SO:0001583	missense	9684	3	121368	36				g.chr8:145746029G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.737G>A	chr8.hg19:g.145746029G>A	ENSP00000292524:p.Arg246His	0					LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	0	0	0	1.973482	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	3	883	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	1	1	hg19	c.737G>A	CCDS6432.1	1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251063	0.39797	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54071	0.59;0.59;0.59	4.08	3.1	0.35709	4.08	3.1	0.35709	.	0.816864	0.11252	N	0.583542	T	0.36468	0.0968	L	0.36672	1.1	0.26091	N	0.980956	P	0.42078	0.77	B	0.36885	0.235	T	0.19516	-1.0303	10	0.39692	T	0.17	.	4.7619	0.13111	0.2552:0.0:0.7448:0.0	.	246	Q15048	LRC14_HUMAN	H	246	ENSP00000436452:R246H;ENSP00000434768:R246H;ENSP00000292524:R246H	ENSP00000292524:R246H	R	+	2	0	0	LRRC14	145716837	145716837	0.050000	0.20438	0.545000	0.28153	0.802000	0.45316	2.394000	0.44450	2.097000	0.63578	0.462000	0.41574	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-2.985191	1	0.170000	NM_014665			71	70		356	351	1		1	1		0	0	92	0		1	9.843684e-01	0	13	0	21	0	71	356
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642																																						ENST00000276826.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998118	0.990000	1.000000																										0				22						c.(2815-2817)Gag>Aag		Rho GTPase activating protein 39							74.0	52.0	59.0					8																	145757761		2203	4298	6501	SO:0001583	missense	80728	0	0					g.chr8:145757761C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2815G>A	chr8.hg19:g.145757761C>T	ENSP00000276826:p.Glu939Lys	0					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K	p.E939K			0	0	0	1.973482	Q9C0H5	RHG39_HUMAN		8	3016	-			B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	1	1	hg19	c.2815G>A		1	.	.	.	.	.	.	.	.	.	.	C	35	5.440753	0.96168	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.18657	2.2;2.2;2.2	5.45	5.45	0.79879	5.45	5.45	0.79879	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.957;0.994	T	0.02081	-1.1217	10	0.35671	T	0.21	-33.0693	16.768	0.85528	0.0:1.0:0.0:0.0	.	939;970	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	939;970;939	ENSP00000276826:E939K;ENSP00000366522:E970K;ENSP00000445075:E939K	ENSP00000276826:E939K	E	-	1	0	0	ARHGAP39	145728569	145728569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.565000	0.86533	0.561000	0.74099	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				19	19		115	112	1		1	1		0	0	34	0		9.999929e-01	5.363961e-01	0	3	0	9	0	19	115
ARHGAP39	80728	broad.mit.edu	37	8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632																																						ENST00000276826.5	1.000000	0.790000	1	9.600000e-01	0.990000	0.980102	0.990000	1.000000																										0				22						c.(2233-2235)Gag>Aag		Rho GTPase activating protein 39							72.0	65.0	68.0					8																	145770921		2203	4300	6503	SO:0001583	missense	80728	1	121412	27				g.chr8:145770921C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2233G>A	chr8.hg19:g.145770921C>T	ENSP00000276826:p.Glu745Lys	0					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR	p.E745K			0	0	0	1.973482	Q9C0H5	RHG39_HUMAN		5	2434	-			B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	1	1	hg19	c.2233G>A		1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860027	0.91433	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69685	-0.42;-0.16;-0.42	4.92	4.92	0.64577	4.92	4.92	0.64577	MyTH4 domain (1);	0.056351	0.64402	D	0.000002	T	0.74824	0.3767	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.981;0.999	P;P	0.60173	0.532;0.87	T	0.76945	-0.2771	10	0.59425	D	0.04	-9.4975	15.9706	0.80013	0.0:1.0:0.0:0.0	.	745;745	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	745	ENSP00000276826:E745K;ENSP00000366522:E745K;ENSP00000445075:E745K	ENSP00000276826:E745K	E	-	1	0	0	ARHGAP39	145741729	145741729	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-2.841678	1	0.170000				26	26		231	228	1		1	1		0	0	60	0		9.999999e-01	2.808047e-01	0	6	0	4	0	26	231
ARHGAP39	80728	broad.mit.edu	37	8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	696					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637																																						ENST00000276826.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.992186	0.990000	1.000000																										0				22						c.(2086-2088)aaC>aaA		Rho GTPase activating protein 39							60.0	54.0	56.0					8																	145771066		2203	4300	6503	SO:0001583	missense	80728	0	0					g.chr8:145771066G>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2088C>A	chr8.hg19:g.145771066G>T	ENSP00000276826:p.Asn696Lys	0					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000528810.1_5'Flank	p.N696K			0	0	0	1.973482	Q9C0H5	RHG39_HUMAN		5	2289	-			B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	1	1	hg19	c.2088C>A		1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588366	0.66105	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68331	-0.32;-0.04;-0.32	5.22	4.35	0.52113	5.22	4.35	0.52113	.	0.157092	0.56097	D	0.000033	T	0.50429	0.1615	N	0.03050	-0.425	0.45464	D	0.998435	D;P	0.58620	0.983;0.918	P;P	0.55508	0.777;0.712	T	0.47923	-0.9079	10	0.10636	T	0.68	-10.3016	11.4392	0.50086	0.0886:0.0:0.9114:0.0	.	696;696	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	696	ENSP00000276826:N696K;ENSP00000366522:N696K;ENSP00000445075:N696K	ENSP00000276826:N696K	N	-	3	2	2	ARHGAP39	145741874	145741874	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.044000	0.57361	1.190000	0.43042	0.650000	0.86243	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1		2	2	2	0		0	0	51		51	49	1	2.060000	-20.000000	1	0.170000				28	28		226	223	1		1	0		0	0	51	0		1	4.392869e-01	0	1	0	12	0	28	226
ZNF251	90987	broad.mit.edu	37	8	145948338	145948338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145948338G>A	ENST00000292562.7	-	5	982	c.707C>T	c.(706-708)cCg>cTg	p.P236L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		ACATTCGTACGGCTTCTCCCC	0.423																																						ENST00000292562.7	0.470000	0.130000	3.700000e-01	1.900000e-01	0.270000	0.286794	0.270000	0.260000																										0				17						c.(706-708)cCg>cTg		zinc finger protein 251							58.0	64.0	62.0					8																	145948338		2075	4236	6311	SO:0001583	missense	90987	1	121050	28				g.chr8:145948338G>A	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.707C>T	chr8.hg19:g.145948338G>A	ENSP00000292562:p.Pro236Leu	0					ZNF251_ENST00000524394.1_Intron	p.P236L	NM_138367.1	NP_612376.1	0	0	0	1.973482	Q9BRH9	ZN251_HUMAN	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)	5	982	-	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)		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	0	1	hg19	c.707C>T	CCDS47944.1	0	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214183	0.39102	.	.	ENSG00000198169	ENST00000292562	T	0.17054	2.3	2.44	1.55	0.23275	2.44	1.55	0.23275	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28466	0.0704	L	0.59436	1.845	0.42217	D	0.991838	D	0.76494	0.999	P	0.59171	0.853	T	0.03829	-1.1000	9	0.66056	D	0.02	-9.0938	8.4183	0.32685	0.1307:0.0:0.8693:0.0	.	236	Q9BRH9	ZN251_HUMAN	L	236	ENSP00000292562:P236L	ENSP00000292562:P236L	P	-	2	0	0	ZNF251	145919147	145919147	1.000000	0.71417	0.213000	0.23690	0.113000	0.19764	4.403000	0.59729	0.577000	0.29470	0.563000	0.77884	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	0	0	1		2	2	2	0		0	0	59		59	56	1	2.060000	-3.077982	1	0.170000	NM_138367			9	9		389	376	0		1	0		0	0	59	0		9.934158e-01	2.643872e-01	0	1	0	39	0	9	389
ZNF34	80778	broad.mit.edu	37	8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000343459.4	-	6	1243	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	ZNF34_ENST00000429371.2_Missense_Mutation_p.C372Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	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)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428																																						ENST00000343459.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1177-1179)tGc>tAc		zinc finger protein 34							46.0	51.0	49.0					8																	145999156		2184	4298	6482	SO:0001583	missense	80778	0	0					g.chr8:145999156C>T	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1178G>A	chr8.hg19:g.145999156C>T	ENSP00000341528:p.Cys393Tyr	0					ZNF34_ENST00000429371.2_Missense_Mutation_p.C372Y	p.C393Y			0	0	0	1.973482	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	6	1243	-	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)	Acute lymphoblastic leukemia(644;0.221)	D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	1	1	hg19	c.1178G>A	CCDS47945.1	1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610860	0.66558	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	D;D	0.85088	-1.94;-1.94	3.73	3.73	0.42828	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003504	D	0.94305	0.8170	H	0.95328	3.655	0.36271	D	0.855171	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.97739	1.0207	10	0.87932	D	0	.	15.4547	0.75302	0.0:1.0:0.0:0.0	.	352;393	E7EN25;Q8IZ26	.;ZNF34_HUMAN	Y	352;322;393;372	ENSP00000341528:C393Y;ENSP00000396894:C372Y	ENSP00000341528:C393Y	C	-	2	0	0	ZNF34	145969960	145969960	0.997000	0.39634	0.999000	0.59377	0.940000	0.58332	5.107000	0.64603	2.351000	0.79841	0.561000	0.74099	TGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_030580			40	40		109	104	1		1	1		0	0	37	0		1	9.981346e-01	0	2	0	28	0	40	109
ZNF517	340385	broad.mit.edu	37	8	146033667	146033667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	ENST00000531720.1	+	4	1411	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_ENST00000359971.3_Missense_Mutation_p.A456T|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	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)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCGGTGCCGCGCCTGCGGGAG	0.721																																						ENST00000531720.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999923	0.990000	1.000000																										0				13						c.(1366-1368)Gcc>Acc		zinc finger protein 517							9.0	11.0	11.0					8																	146033667		2167	4272	6439	SO:0001583	missense	340385	0	0					g.chr8:146033667G>A	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1366G>A	chr8.hg19:g.146033667G>A	ENSP00000436103:p.Ala456Thr	0					ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.A456T	p.A456T			0	0	0	1.973482	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	4	1411	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)			Missense_Mutation	SNP	ENST00000531720.1	0	1	hg19	c.1366G>A	CCDS6434.1	1	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451993	0.12283	.	.	ENSG00000197363	ENST00000359971;ENST00000531720	T;T	0.18016	2.24;2.24	2.44	0.468	0.16732	2.44	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	N	0.05554	-0.025	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.32402	-0.9908	9	0.52906	T	0.07	.	4.193	0.10430	0.142:0.0:0.6311:0.2269	.	456	Q6ZMY9	ZN517_HUMAN	T	456	ENSP00000353058:A456T;ENSP00000436103:A456T	ENSP00000353058:A456T	A	+	1	0	0	ZNF517	146004471	146004471	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.863000	0.04259	-0.038000	0.13624	-0.268000	0.10319	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	XM_291261			18	16		63	63	0		1	1		0	0	10	0		9.999901e-01	7.377914e-01	0	5	0	6	0	18	63
ZNF250	58500	broad.mit.edu	37	8	146107485	146107485	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	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)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1096-1098)ccC>ccA		zinc finger protein 250							121.0	92.0	102.0					8																	146107485		2203	4300	6503	SO:0001819	synonymous_variant	58500	0	0					g.chr8:146107485G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1098C>A	chr8.hg19:g.146107485G>T		0					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P	p.P366P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	0	0	0	1.973482	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	6	1214	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	1	1	hg19	c.1098C>A	CCDS34972.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_021061			64	62		263	252	1		1	0		0	0	63	0		1	9.214770e-01	0	1	0	19	0	64	263
ZNF16	7564	broad.mit.edu	37	8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527																																						ENST00000276816.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1222-1224)aAt>aCt		zinc finger protein 16							98.0	92.0	94.0					8																	146156950		2203	4300	6503	SO:0001583	missense	7564	0	0					g.chr8:146156950T>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1223A>C	chr8.hg19:g.146156950T>G	ENSP00000276816:p.Asn408Thr	0					ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	p.N408T	NM_001029976.2	NP_001025147.2	0	0	0	1.973482	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	4	1409	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	1	1	hg19	c.1223A>C	CCDS6437.1	1	.	.	.	.	.	.	.	.	.	.	T	6.663	0.490788	0.12702	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17054	2.3;2.3	3.88	0.141	0.14811	3.88	0.141	0.14811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.05467	-0.045	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.23904	-1.0175	9	0.48119	T	0.1	.	4.232	0.10608	0.0:0.3157:0.1749:0.5093	.	408	P17020	ZNF16_HUMAN	T	408	ENSP00000276816:N408T;ENSP00000378369:N408T	ENSP00000276816:N408T	N	-	2	0	0	ZNF16	146127754	146127754	0.000000	0.05858	0.084000	0.20598	0.929000	0.56500	-1.587000	0.02108	-0.142000	0.11354	-0.464000	0.05259	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	1	0	1		2	2	2	0		0	0	88		88	86	1	2.060000	-3.269839	1	0.170000	NM_006958			74	73		312	307	1		1	1		0	0	88	0		1	9.842334e-01	0	9	0	21	0	74	312
ZNF596	169270	broad.mit.edu	37	8	192901	192901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000320552.2_Silent_p.F9F|ZNF596_ENST00000308811.4_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	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)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438																																						ENST00000398612.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999129	0.990000	1.000000																										0				14						c.(25-27)ttC>ttT		zinc finger protein 596							138.0	121.0	127.0					8																	192901		2203	4300	6503	SO:0001819	synonymous_variant	169270	2	121410	39				g.chr8:192901C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.27C>T	chr8.hg19:g.192901C>T		0					ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	1	2	3	1.996874	Q8TC21	ZN596_HUMAN		3	410	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	B2R8P4|O95015|Q8N9X0	Silent	SNP	ENST00000398612.1	1	1	hg19	c.27C>T	CCDS5951.2	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-13.691000	1	0.170000	NM_173539			28	27		189	187	1		1	0		0	0	50	0		1	8.917565e-02	0	0	0	4	0	28	189
ZNF596	169270	broad.mit.edu	37	8	195764	195764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L|ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	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)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393																																						ENST00000398612.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(916-918)cCa>cTa		zinc finger protein 596							55.0	52.0	53.0					8																	195764		2203	4300	6503	SO:0001583	missense	169270	0	0					g.chr8:195764C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.917C>T	chr8.hg19:g.195764C>T	ENSP00000381613:p.Pro306Leu	0					ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	p.P306L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	1	2	3	1.996874	Q8TC21	ZN596_HUMAN		6	1300	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	1	1	hg19	c.917C>T	CCDS5951.2	1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380151	0.61845	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.27557	1.66;2.3;1.66	2.62	2.62	0.31277	2.62	2.62	0.31277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49372	0.1553	M	0.62209	1.925	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	9	0.62326	D	0.03	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	306	Q8TC21	ZN596_HUMAN	L	306;236;306	ENSP00000310033:P306L;ENSP00000318719:P236L;ENSP00000381613:P306L	ENSP00000310033:P306L	P	+	2	0	0	ZNF596	185764	185764	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	5.821000	0.69257	1.792000	0.52537	0.585000	0.79938	CCA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_173539			41	40		163	159	1		1	0		0	0	53	0		1	1.882291e-01	0	1	0	3	0	41	163
FBXO25	26260	broad.mit.edu	37	8	418787	418787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000276326.5	+	11	1206	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N|FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	363					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			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)		GCACTTCATCGACCTCTTCAA	0.582																																						ENST00000276326.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				10						c.(1087-1089)Gac>Aac		F-box protein 25							56.0	52.0	53.0					8																	418787		2203	4300	6503	SO:0001583	missense	26260	0	0					g.chr8:418787G>A	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.1087G>A	chr8.hg19:g.418787G>A	ENSP00000276326:p.Asp363Asn	0					FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N|FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N	p.D363N	NM_183421.1	NP_904357.1	1	2	3	1.996874	Q8TCJ0	FBX25_HUMAN		11	1206	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	1	1	hg19	c.1087G>A	CCDS5953.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567295	0.65651	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.18338	2.22;2.25	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.100946	0.64402	D	0.000001	T	0.33265	0.0857	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.01382	-1.1369	10	0.16420	T	0.52	-37.9512	17.3742	0.87387	0.0:0.0:1.0:0.0	.	287;354;363	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	354;287;363;326;287	ENSP00000342077:D354N;ENSP00000276326:D363N	ENSP00000276326:D363N	D	+	1	0	0	FBXO25	408787	408787	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.992000	0.63889	2.702000	0.92279	0.467000	0.42956	GAC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	1	0	1		2	2	2	0		0	0	40		40	38	1	2.060000	-20.000000	1	0.170000	NM_012173			33	32		185	182	1		1	1		0	0	40	0		1	9.999999e-01	0	42	0	110	0	33	185
ERICH1	157697	broad.mit.edu	37	8	623643	623643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617																																						ENST00000262109.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(709-711)Gct>Act		glutamate-rich 1							128.0	118.0	121.0					8																	623643		2203	4300	6503	SO:0001583	missense	157697	1	121412	38				g.chr8:623643C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.709G>A	chr8.hg19:g.623643C>T	ENSP00000262109:p.Ala237Thr	0					ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	p.A237T	NM_207332.1	NP_997215.1	1	2	3	1.996874	Q86X53	ERIC1_HUMAN		4	786	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	1	1	hg19	c.709G>A	CCDS5955.1	1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934118	0.02340	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.35973	1.28;1.4	1.47	-2.93	0.05598	1.47	-2.93	0.05598	.	.	.	.	.	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25537	-1.0129	9	0.13470	T	0.59	.	0.6768	0.00868	0.1732:0.2483:0.172:0.4065	.	237;237;143	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	237;143;237	ENSP00000428635:A143T;ENSP00000262109:A237T	ENSP00000262109:A237T	A	-	1	0	0	ERICH1	613643	613643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.912000	0.01582	-1.447000	0.01943	-3.692000	0.00024	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	1	0	1		2	2	2	0		0	0	152		152	152	1	2.060000	-20.000000	1	0.170000	NM_207332			169	163		681	662	1		1	1		0	0	152	0		1	1	0	28	0	77	0	169	681
ERICH1	157697	broad.mit.edu	37	8	623821	623821	+	Silent	SNP	G	G	T	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Silent_p.A83A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	177										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGCCAAGCCGGCTGCTTTCT	0.483																																						ENST00000262109.7	1.000000	0.250000	5.500000e-01	3.200000e-01	0.420000	0.458817	0.420000	0.410000																										0				20						c.(529-531)gcC>gcA		glutamate-rich 1							70.0	73.0	72.0					8																	623821		2203	4300	6503	SO:0001819	synonymous_variant	157697	0	0					g.chr8:623821G>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.531C>A	chr8.hg19:g.623821G>T		0					ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Silent_p.A83A	p.A177A	NM_207332.1	NP_997215.1	1	2	3	1.996874	Q86X53	ERIC1_HUMAN		4	608	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	1	1	hg19	c.531C>A	CCDS5955.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	0	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-2.853617	1	0.170000	NM_207332			18	18		502	493	0		1	0		0	0	95	0		9.999791e-01	6.127579e-01	0	1	0	57	0	18	502
DLGAP2	9228	broad.mit.edu	37	8	1580998	1580998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	531					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCAGGTGAGCGAGGCGGAGA	0.587																																						ENST00000421627.2	1.000000	0.650000	1	9.100000e-01	0.990000	0.962069	0.990000	1.000000																										0				41						c.(1354-1356)agC>agT		discs, large (Drosophila) homolog-associated protein 2							103.0	107.0	105.0					8																	1580998		2181	4269	6450	SO:0001819	synonymous_variant	9228	2	121256	25				g.chr8:1580998C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1356C>T	chr8.hg19:g.1580998C>T		0						p.S452S	NM_004745.3	NP_004736.2	1	2	3	1.996874	Q9P1A6	DLGP2_HUMAN		5	1490	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	0	1	hg19	c.1356C>T	CCDS47760.1	1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425295	0.04701	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	5.06	-10.1	0.00402	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73392	-0.3997	4	.	.	.	-10.2684	17.3139	0.87217	0.0:0.0974:0.0:0.9026	.	.	.	.	V	469	.	.	A	+	2	0	0	DLGAP2	1568405	1568405	0.999000	0.42202	0.250000	0.24296	0.151000	0.21798	0.431000	0.21444	-2.268000	0.00685	-1.022000	0.02435	GCG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-7.007482	1	0.170000	NM_004745			10	10		86	83	0		1			0	0	13	0		9.969260e-01	0	0	0	0	0	0	10	86
DLGAP2	9228	broad.mit.edu	37	8	1624783	1624783	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582																																						ENST00000421627.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.988137	0.990000	1.000000																										0				41						c.(2047-2049)Cga>Tga		discs, large (Drosophila) homolog-associated protein 2							33.0	37.0	36.0					8																	1624783		1911	4134	6045	SO:0001630	splice_region_variant	9228	0	0					g.chr8:1624783C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1C>T	chr8.hg19:g.1624783C>T		0						p.R683*	NM_004745.3	NP_004736.2	1	2	3	1.996874	Q9P1A6	DLGP2_HUMAN		8	2181	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Splice_Site	SNP	ENST00000421627.2	0	0	hg19	c.2047C>T	CCDS47760.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.864159	0.97043	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	.	.	.	5.66	2.83	0.33086	5.66	2.83	0.33086	.	0.107337	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-4.6979	14.5081	0.67767	0.5095:0.4905:0.0:0.0	.	.	.	.	X	714;683	.	ENSP00000348366:R714X	R	+	1	2	2	DLGAP2	1612190	1612190	1.000000	0.71417	0.906000	0.35671	0.060000	0.15804	1.383000	0.34385	0.292000	0.22492	-0.309000	0.09137	CGA	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-17.777750	1	0.170000	NM_004745	Nonsense_Mutation		10	10		66	63	1		1			0	0	17	0		9.969579e-01	0	0	0	0	0	0	10	66
DLGAP2	9228	broad.mit.edu	37	8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	773					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562																																						ENST00000421627.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				41						c.(2080-2082)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							53.0	59.0	57.0					8																	1626412		2092	4194	6286	SO:0001583	missense	9228	6	121026	37				g.chr8:1626412C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2081C>T	chr8.hg19:g.1626412C>T	ENSP00000400258:p.Thr694Met	0						p.T694M	NM_004745.3	NP_004736.2	1	2	3	1.996874	Q9P1A6	DLGP2_HUMAN		9	2215	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	1	1	hg19	c.2081C>T	CCDS47760.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601107|4.601107	0.87055|0.87055	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	4.85|4.85	4.85|4.85	0.62838|0.62838	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.80616|0.80616	2.505|2.505	0.49687|0.49687	D|D	0.99981|0.99981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.984;0.991	T|T	0.58329|0.58329	-0.7655|-0.7655	5|10	.|0.87932	.|D	.|0	-9.9664|-9.9664	17.9665|17.9665	0.89100|0.89100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|759;773	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	697|725;694	.|ENSP00000400258:T694M	.|ENSP00000348366:T725M	R|T	+|+	1|2	2|0	2|0	DLGAP2|DLGAP2	1613819|1613819	1613819|1613819	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.925000|0.925000	0.55904|0.55904	7.350000|7.350000	0.79385|0.79385	2.231000|2.231000	0.72958|0.72958	0.557000|0.557000	0.71058|0.71058	CGG|ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_004745			47	47		273	270	1		1			0	0	54	0		1	0	0	0	0	0	0	47	273
CLN8	2055	broad.mit.edu	37	8	1719499	1719499	+	Silent	SNP	C	C	T	rs372313992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	93	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)				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)		TGCTGCATGCCGACAAGGCGC	0.582																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4	1.000000	0.840000	1	9.800000e-01	0.990000	0.985918	0.990000	1.000000																										0				24						c.(277-279)gcC>gcT		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)		C		1,4405	2.1+/-5.4	0,1,2202	97.0	89.0	91.0		279	-10.1	0.0	8		91	0,8600		0,0,4300	no	coding-synonymous	CLN8	NM_018941.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		93/287	1719499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2055	5	121412	40				g.chr8:1719499C>T	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.279C>T	chr8.hg19:g.1719499C>T		0						p.A93A	NM_018941.3	NP_061764.2	1	2	3	1.996874	Q9UBY8	CLN8_HUMAN		2	526	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	1	1	hg19	c.279C>T	CCDS5956.1	1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	1	0	1		2	2	2	0		0	0	56		56	53	1	2.060000	-2.879461	1	0.170000	NM_018941			44	43		415	407	0		1	1		0	0	56	0		1	9.718436e-01	0	5	0	51	0	44	415
ARHGEF10	9639	broad.mit.edu	37	8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000398564.1	+	23	2696	c.2696C>A	c.(2695-2697)gCt>gAt	p.A899D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A898D|ARHGEF10_ENST00000262112.6_Intron			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	899					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)			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)		ATTGAATGTGCTGCTTATAAC	0.378																																						ENST00000398564.1	1.000000	0.640000	1	8.000000e-01	0.980000	0.922636	0.980000	1.000000																										0				35						c.(2695-2697)gCt>gAt		Rho guanine nucleotide exchange factor (GEF) 10							179.0	165.0	170.0					8																	1874553		2203	4300	6503	SO:0001583	missense	9639	0	0					g.chr8:1874553C>A	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.2696C>A	chr8.hg19:g.1874553C>A	ENSP00000381571:p.Ala899Asp	0					ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A898D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000262112.6_Intron	p.A899D			1	2	3	1.996874	O15013	ARHGA_HUMAN		23	2696	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	1	1	hg19	c.2696C>A		1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218496	0.58560	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564	T;T;T;T	0.61627	0.1;0.16;0.09;0.09	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.115630	0.56097	D	0.000021	T	0.78142	0.4237	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.72075	0.967;0.976;0.953	T	0.81215	-0.1034	10	0.72032	D	0.01	-14.6941	18.8647	0.92287	0.0:1.0:0.0:0.0	.	899;836;874	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	D	874;836;898;899	ENSP00000340297:A874D;ENSP00000427909:A836D;ENSP00000431012:A898D;ENSP00000381571:A899D	ENSP00000340297:A874D	A	+	2	0	0	ARHGEF10	1861960	1861960	1.000000	0.71417	0.945000	0.38365	0.017000	0.09413	6.550000	0.73905	2.437000	0.82529	0.650000	0.86243	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000				24	23		269	267	0		1	0		0	0	81	0		9.999997e-01	8.799144e-01	0	1	0	43	0	24	269
MYOM2	9172	broad.mit.edu	37	8	2092671	2092671	+	Silent	SNP	C	C	T	rs201809676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2092671C>T	ENST00000262113.4	+	37	4305	c.4164C>T	c.(4162-4164)agC>agT	p.S1388S	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.S813S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1388	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			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)		TCCAGCTCAGCGAGCACTTCT	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4	1.000000	0.270000	5.900000e-01	3.500000e-01	0.450000	0.489263	0.450000	0.440000																										0				104						c.(4162-4164)agC>agT		myomesin 2							115.0	100.0	105.0					8																	2092671		2203	4300	6503	SO:0001819	synonymous_variant	9172	3	121412	40				g.chr8:2092671C>T		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.4164C>T	chr8.hg19:g.2092671C>T		0					MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.S813S	p.S1388S	NM_003970.2	NP_003961.2	1	2	3	1.996874	P54296	MYOM2_HUMAN		37	4305	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	Q7Z3Y2	Silent	SNP	ENST00000262113.4	1	1	hg19	c.4164C>T	CCDS5957.1	0																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	0	0	1		16	3	2	1		1	1	107		107	107	1	2.060000	-3.680519	1	0.170000	NM_003970			18	18		465	460	0		1	0		1	0	107	0		6.863953e-01	1.713516e-01	0	1	0	34	0	18	465
CSMD1	64478	broad.mit.edu	37	8	2800060	2800060	+	Missense_Mutation	SNP	G	G	A	rs78595521|rs367589721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2800060G>A	ENST00000520002.1	-	70	11027	c.10472C>T	c.(10471-10473)gCt>gTt	p.A3491V	CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3491V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3491						integral component of membrane (GO:0016021)				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)		CAGAATGGCAGCCGCCACAGA	0.408																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				25						c.(10471-10473)gCt>gTt		CUB and Sushi multiple domains 1							28.0	35.0	33.0					8																	2800060		1863	4098	5961	SO:0001583	missense	64478	0	0					g.chr8:2800060G>A			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.10472C>T	chr8.hg19:g.2800060G>A	ENSP00000430733:p.Ala3491Val	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3491V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314V	p.A3491V			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		70	11027	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	1	0	hg19	c.10472C>T		1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640034	0.29157	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.28454	1.61;1.76;1.78;1.61	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.61218	1.895	0.80722	D	1	D;P;D	0.69078	0.966;0.533;0.997	B;B;D	0.68483	0.284;0.263;0.958	T	0.32375	-0.9909	10	0.17369	T	0.5	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	3491;3491;3313	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	V	3314;3491;3352;3490;3313	ENSP00000383047:A3314V;ENSP00000430733:A3491V;ENSP00000441462:A3490V;ENSP00000446243:A3313V	ENSP00000320445:A3352V	A	-	2	0	0	CSMD1	2787467	2787467	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	5.548000	0.67255	2.657000	0.90304	0.637000	0.83480	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-3.168524	1	0.170000	NM_033225			19	19		60	59	1		1			0	0	18	0		9.999960e-01	0	0	0	0	0	0	19	60
CSMD1	64478	broad.mit.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A	rs201200691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000520002.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2950K(1)|p.T3221K(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)		AAAGTGTGGCGTACCAGGGTC	0.348																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										2	Substitution - Missense(2)	p.T2950K(1)|p.T3221K(1)	kidney(2)	25						c.(9664-9666)aCg>aTg		CUB and Sushi multiple domains 1							77.0	74.0	75.0					8																	2818703		1842	4103	5945	SO:0001583	missense	64478	21	120818	41				g.chr8:2818703G>A			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.9665C>T	chr8.hg19:g.2818703G>A	ENSP00000430733:p.Thr3222Met	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M	p.T3222M			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		63	10220	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	1	1	hg19	c.9665C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737291	0.49045	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.81	5.81	0.92471	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.55103	1.725	0.80722	D	1	D;P;D	0.69078	0.997;0.52;0.995	D;B;D	0.66497	0.91;0.223;0.944	T	0.74131	-0.3764	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	3222;3222;3044	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	3045;3222;3083;3221;3044	ENSP00000383047:T3045M;ENSP00000430733:T3222M;ENSP00000441462:T3221M;ENSP00000446243:T3044M	ENSP00000320445:T3083M	T	-	2	0	0	CSMD1	2806110	2806110	1.000000	0.71417	0.104000	0.21259	0.343000	0.28985	5.299000	0.65716	2.755000	0.94549	0.650000	0.86243	ACG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-3.204592	1	0.170000	NM_033225			24	24		110	107	1		1			0	0	30	0		9.999998e-01	0	0	0	0	0	0	24	110
CSMD1	64478	broad.mit.edu	37	8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T	rs532302924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2894	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		CGTGTCGTTGCCTATGAGGCT	0.597													C|||	0	0.0	0.0	0.0	5008	,	,		15651	0.0		0.0	False		,,,				2504	0.0					ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999763	0.990000	1.000000																										0				25						c.(8680-8682)gGc>gAc		CUB and Sushi multiple domains 1							53.0	55.0	54.0					8																	2832035		2019	4185	6204	SO:0001583	missense	64478	1	120914	18				g.chr8:2832035C>T			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.8681G>A	chr8.hg19:g.2832035C>T	ENSP00000430733:p.Gly2894Asp	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D	p.G2894D			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		57	9236	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	1	1	hg19	c.8681G>A		1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302160	0.60195	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.66	4.79	0.61399	5.66	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.7098	0.69222	0.0:0.9304:0.0:0.0696	.	2894;2894;2835	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2836;2894;2755;2893;2835	ENSP00000383047:G2836D;ENSP00000430733:G2894D;ENSP00000441462:G2893D;ENSP00000446243:G2835D	ENSP00000320445:G2755D	G	-	2	0	0	CSMD1	2819442	2819442	1.000000	0.71417	0.138000	0.22173	0.003000	0.03518	7.642000	0.83385	1.387000	0.46486	0.655000	0.94253	GGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_033225			22	22		119	113	1		1			0	0	32	0		9.999989e-01	0	0	0	0	0	0	22	119
CSMD1	64478	broad.mit.edu	37	8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		GTAGTAACCAGGACTGCAGCT	0.537																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				25						c.(7771-7773)cCt>cAt		CUB and Sushi multiple domains 1							74.0	72.0	73.0					8																	2886927		2012	4174	6186	SO:0001583	missense	64478	0	0					g.chr8:2886927G>T			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.7772C>A	chr8.hg19:g.2886927G>T	ENSP00000430733:p.Pro2591His	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H	p.P2591H			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		52	8327	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	1	1	hg19	c.7772C>A		1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241112	0.79912	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.88	4.88	0.63580	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.279436	0.29737	N	0.011325	D	0.83229	0.5209	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.74348	0.964;0.983;0.891	D	0.85819	0.1384	10	0.72032	D	0.01	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	2591;2591;2590	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2591;2591;2452;2590;2590	ENSP00000383047:P2591H;ENSP00000430733:P2591H;ENSP00000441462:P2590H;ENSP00000446243:P2590H	ENSP00000320445:P2452H	P	-	2	0	0	CSMD1	2874334	2874334	1.000000	0.71417	0.133000	0.22050	0.944000	0.59088	8.285000	0.89914	2.552000	0.86080	0.591000	0.81541	CCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-3.779759	1	0.170000	NM_033225			21	21		78	74	1		1			0	0	16	0		9.999985e-01	0	0	0	0	0	0	21	78
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A1449S(1)|p.A1178S(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)		TGTCTGATACCTATGCATGTA	0.418																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										2	Substitution - Missense(2)	p.A1449S(1)|p.A1178S(1)	lung(2)	25						c.(4348-4350)Gct>Tct		CUB and Sushi multiple domains 1							89.0	84.0	86.0					8																	3087562		1885	4117	6002	SO:0001630	splice_region_variant	64478	0	0					g.chr8:3087562C>A			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.4348+1G>T	chr8.hg19:g.3087562C>A		0					CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S	p.A1450S			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		28	4903	-		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)	Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	1	0	hg19	c.4348G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	0|0	CSMD1|CSMD1	3074969|3074969	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-2.746690	1	0.170000	NM_033225	Missense_Mutation		42	42		257	256	1		1			0	0	48	0		1	0	0	0	0	0	0	42	257
CSMD1	64478	broad.mit.edu	37	8	3141743	3141743	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000520002.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1360I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1360	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				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)		GTTGAAGGTGCTGTGGATGTC	0.577											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000520002.1	1.000000	0.800000	1	9.900000e-01	0.990000	0.987476	0.990000	1.000000																										0				25						c.(4078-4080)aGc>aTc		CUB and Sushi multiple domains 1							100.0	115.0	110.0					8																	3141743		2141	4267	6408	SO:0001583	missense	64478	0	0					g.chr8:3141743C>A			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.4079G>T	chr8.hg19:g.3141743C>A	ENSP00000430733:p.Ser1360Ile	0		OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I	p.S1360I			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		27	4634	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	0	1	hg19	c.4079G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157117|4.157117	0.78114|0.78114	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	5.12|5.12	5.12|5.12	0.69794|0.69794	5.12|5.12	5.12|5.12	0.69794|0.69794	.|CUB (5);	.|0.146217	.|0.48767	.|D	.|0.000167	D|D	0.87273|0.87273	0.6136|0.6136	H|H	0.94306|0.94306	3.52|3.52	0.46131|0.46131	D|D	0.998881|0.998881	.|D;D;D	.|0.89917	.|0.999;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.975	D|D	0.90898|0.90898	0.4766|0.4766	5|10	.|0.72032	.|D	.|0.01	.|.	18.573|18.573	0.91144|0.91144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1360;1360;1360	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	H|I	839|1360;1360;1222;1359;1359;1359	.|ENSP00000383047:S1360I;ENSP00000430733:S1360I;ENSP00000441462:S1359I;ENSP00000446243:S1359I;ENSP00000441675:S1359I	.|ENSP00000320445:S1222I	Q|S	-|-	3|2	2|0	2|0	CSMD1|CSMD1	3129150|3129150	3129150|3129150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.850000|4.850000	0.62889|0.62889	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	CAG|AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-19.674200	1	0.170000	NM_033225			12	12		86	85	0		1			0	0	18	0		9.992754e-01	0	0	0	0	0	0	12	86
CSMD1	64478	broad.mit.edu	37	8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000520002.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1091C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1091	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		CACACACGGCGGCCCCCACCC	0.552																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(3271-3273)Cgc>Tgc		CUB and Sushi multiple domains 1							69.0	74.0	72.0					8																	3216710		2203	4300	6503	SO:0001583	missense	64478	0	0					g.chr8:3216710G>A			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.3271C>T	chr8.hg19:g.3216710G>A	ENSP00000430733:p.Arg1091Cys	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C	p.R1091C			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		22	3826	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	1	1	hg19	c.3271C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.320993|4.320993	0.81580|0.81580	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	5.34|5.34	0.76211|0.76211	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.92367|0.92367	3.3|3.3	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	0.88420|0.88420	0.3028|0.3028	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1091;1091;1091	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	570|1091;1091;953;1090;1090;1090	.|ENSP00000383047:R1091C;ENSP00000430733:R1091C;ENSP00000441462:R1090C;ENSP00000446243:R1090C;ENSP00000441675:R1090C	.|ENSP00000320445:R953C	P|R	-|-	2|1	0|0	0|0	CSMD1|CSMD1	3204117|3204117	3204117|3204117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.104000|6.104000	0.71498|0.71498	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.048061	1	0.170000	NM_033225			87	81		416	405	1		1			0	0	84	0		1	0	0	0	0	0	0	87	416
CSMD1	64478	broad.mit.edu	37	8	3253870	3253870	+	Silent	SNP	C	C	T	rs376085929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	814	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				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)		CATCTCTGACCTCCAAGGTGT	0.527																																						ENST00000520002.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999447	0.990000	1.000000																										0				25						c.(2440-2442)gaG>gaA		CUB and Sushi multiple domains 1		C		1,4317		0,1,2158	49.0	63.0	58.0		2439	-6.3	0.1	8		58	0,8538		0,0,4269	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6427	TT,TC,CC		0.0,0.0232,0.0078		813/3565	3253870	1,12855	2159	4269	6428	SO:0001819	synonymous_variant	64478	1	121160	31				g.chr8:3253870C>T			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.2442G>A	chr8.hg19:g.3253870C>T		0					CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E	p.E814E			1	2	3	1.996874	Q96PZ7	CSMD1_HUMAN		18	2997	-		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)	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	1	1	hg19	c.2442G>A		1	.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895059	0.02491	2.32E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.3	-6.3	0.02007	5.3	-6.3	0.02007	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63519	-0.6619	4	.	.	.	.	14.2824	0.66221	0.0:0.5879:0.0:0.4121	.	.	.	.	S	294	.	.	G	-	1	0	0	CSMD1	3241277	3241277	0.994000	0.37717	0.083000	0.20561	0.013000	0.08279	0.349000	0.20055	-1.647000	0.01511	-0.136000	0.14681	GGT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-19.999470	1	0.170000	NM_033225			12	12		46	46	1		1			0	0	19	0		9.994606e-01	0	0	0	0	0	0	12	46
MCPH1	79648	broad.mit.edu	37	8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	350					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999813	0.990000	1.000000																									AGPAT5/MCPH1(2)	0				6						c.(1048-1050)aGg>aTg		microcephalin 1							44.0	41.0	42.0					8																	6302292		1881	4119	6000	SO:0001583	missense	79648	0	0					g.chr8:6302292G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1049G>T	chr8.hg19:g.6302292G>T	ENSP00000342924:p.Arg350Met	0					MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	p.R350M	NM_024596.3	NP_078872	1	2	3	1.996874	Q8NEM0	MCPH1_HUMAN		8	1125	+		Hepatocellular(245;0.0663)	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	1	1	hg19	c.1049G>T	CCDS43689.1	1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789857	0.31685	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.29	-10.6	0.00265	5.29	-10.6	0.00265	.	1.665360	0.02325	N	0.073407	T	0.08403	0.0209	L	0.28274	0.84	0.09310	N	1	P;B;P	0.36599	0.56;0.075;0.56	B;B;B	0.44315	0.446;0.091;0.446	T	0.19257	-1.0311	10	0.27785	T	0.31	-0.9165	5.3618	0.16091	0.1852:0.0909:0.5436:0.1803	.	302;350;350	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	M	350;350;302	ENSP00000342924:R350M;ENSP00000430962:R350M;ENSP00000430768:R302M	ENSP00000342924:R350M	R	+	2	0	0	MCPH1	6289700	6289700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.526000	0.02229	-2.319000	0.00643	-0.961000	0.02630	AGG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_024596			30	29		183	181	1		1	1		0	0	40	0		1	9.688415e-01	0	9	0	28	0	30	183
XKR5	389610	broad.mit.edu	37	8	6673409	6673409	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	ENST00000518724.1	-	0	989							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGTGGCCAACAGCAACAGGAT	0.587											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1	1.000000	0.560000	1	8.700000e-01	0.990000	0.948214	0.990000	1.000000																										0				3								XK, Kell blood group complex subunit-related family, member 5							74.0	85.0	81.0					8																	6673409		2093	4216	6309			389610	0	0					g.chr8:6673409A>C	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		chr8.hg19:g.6673409A>C		0		OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					1	2	3	1.996874	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	0	989	-			Q5GH74	RNA	SNP	ENST00000518724.1	0	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-12.270770	1	0.170000	NM_207411			6	5		49	47	0		1	0		0	0	12	0		9.617068e-01	0	0	0	0	1	0	6	49
XKR5	389610	broad.mit.edu	37	8	6681195	6681195	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	ENST00000518724.1	-	0	635							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCCATGAAGCGAGTGTAGGA	0.592																																						ENST00000518724.1	1.000000	0.900000	1	9.900000e-01	0.990000	0.993767	0.990000	1.000000																										0				3								XK, Kell blood group complex subunit-related family, member 5							22.0	25.0	24.0					8																	6681195		1987	4162	6149			389610	0	0					g.chr8:6681195C>T	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		chr8.hg19:g.6681195C>T		0									1	2	3	1.996874	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	0	635	-			Q5GH74	RNA	SNP	ENST00000518724.1	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-15.302530	1	0.170000	NM_207411			7	7		30	28	0		1			0	0	14	0		9.806902e-01	0	0	0	0	0	0	7	30
XKR5	389610	broad.mit.edu	37	8	6690240	6690240	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	ENST00000518724.1	-	0	391				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTTCTTACCGCTTCCAAACA	0.527																																						ENST00000518724.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3								XK, Kell blood group complex subunit-related family, member 5							83.0	93.0	89.0					8																	6690240		2095	4221	6316			389610	2	121068	38				g.chr8:6690240G>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		chr8.hg19:g.6690240G>A		0					GS1-24F4.2_ENST00000500823.2_lincRNA				1	2	3	1.996874	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	0	391	-			Q5GH74	RNA	SNP	ENST00000518724.1	1	1	hg19			1																																																																																								1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_207411			67	65		319	310	0		1			0	0	95	0		1	0	0	0	0	0	0	67	319
DEFA6	1671	broad.mit.edu	37	8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	29					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572																																						ENST00000297436.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				4						c.(85-87)cTg>cCg		defensin, alpha 6, Paneth cell-specific							66.0	53.0	57.0					8																	6783472		2203	4300	6503	SO:0001583	missense	1671	0	0					g.chr8:6783472A>G	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.86T>C	chr8.hg19:g.6783472A>G	ENSP00000297436:p.Leu29Pro	0					GS1-24F4.3_ENST00000526235.1_RNA	p.L29P	NM_001926.3	NP_001917.1	1	2	3	1.996874	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	1	126	-			Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	1	1	hg19	c.86T>C	CCDS5960.1	1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186277	0.21870	.	.	ENSG00000164822	ENST00000297436	T	0.35973	1.28	0.559	0.559	0.17272	0.559	0.559	0.17272	Defensin propeptide (1);	.	.	.	.	T	0.50718	0.1632	M	0.62016	1.91	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	8	0.33940	T	0.23	.	.	.	.	.	29	Q01524	DEF6_HUMAN	P	29	ENSP00000297436:L29P	ENSP00000297436:L29P	L	-	2	0	0	DEFA6	6770882	6770882	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.469000	0.27268	0.459000	0.35465	CTG	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_001926			26	26		88	87	1		1			0	0	18	0		1	0	0	0	0	0	0	26	88
DEFA6	1671	broad.mit.edu	37	8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	19					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597																																						ENST00000297436.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999814	0.990000	1.000000																										0				4						c.(55-57)gCt>gAt		defensin, alpha 6, Paneth cell-specific							56.0	45.0	49.0					8																	6783502		2203	4300	6503	SO:0001583	missense	1671	0	0					g.chr8:6783502G>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.56C>A	chr8.hg19:g.6783502G>T	ENSP00000297436:p.Ala19Asp	0					GS1-24F4.3_ENST00000526235.1_RNA	p.A19D	NM_001926.3	NP_001917.1	1	2	3	1.996874	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	1	96	-			Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	1	1	hg19	c.56C>A	CCDS5960.1	1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794401	0.16327	.	.	ENSG00000164822	ENST00000297436	T	0.69926	-0.44	1.75	0.848	0.18966	1.75	0.848	0.18966	Defensin propeptide (1);	0.209200	0.24020	N	0.042300	T	0.76933	0.4057	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64681	-0.6350	10	0.87932	D	0	.	4.0486	0.09785	0.2223:0.0:0.7777:0.0	.	19	Q01524	DEF6_HUMAN	D	19	ENSP00000297436:A19D	ENSP00000297436:A19D	A	-	2	0	0	DEFA6	6770912	6770912	0.056000	0.20664	0.010000	0.14722	0.095000	0.18619	1.088000	0.30877	0.313000	0.23062	0.561000	0.74099	GCT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_001926			17	17		75	73	1		1			0	0	18	0		9.999774e-01	0	0	0	0	0	0	17	75
DEFA4	1669	broad.mit.edu	37	8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T	rs554641481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	51					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537																																						ENST00000297435.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(151-153)agC>agA		defensin, alpha 4, corticostatin							93.0	90.0	91.0					8																	6794269		2203	4300	6503	SO:0001583	missense	1669	0	0					g.chr8:6794269G>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.153C>A	chr8.hg19:g.6794269G>T	ENSP00000297435:p.Ser51Arg	0						p.S51R	NM_001925.1	NP_001916.1	1	2	3	1.996874	P12838	DEF4_HUMAN		2	277	-			Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	1	1	hg19	c.153C>A	CCDS5961.1	1	.	.	.	.	.	.	.	.	.	.	.	0.745	-0.775024	0.02951	.	.	ENSG00000164821	ENST00000297435	T	0.32988	1.43	1.66	1.66	0.24008	1.66	1.66	0.24008	Defensin propeptide (1);	0.817561	0.09937	N	0.736416	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.37091	0.241	T	0.09530	-1.0670	9	0.12103	T	0.63	.	6.8453	0.23984	0.0:0.0:1.0:0.0	.	51	P12838	DEF4_HUMAN	R	51	ENSP00000297435:S51R	ENSP00000297435:S51R	S	-	3	2	2	DEFA4	6781679	6781679	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.162000	0.10012	1.231000	0.43661	0.558000	0.71614	AGC	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_001925			80	79		366	362	1		1			0	0	77	0		1	0	0	0	0	0	0	80	366
SPAG11B	10407	broad.mit.edu	37	8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000297498.2	-	2	257	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000317900.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	31					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587																																						ENST00000297498.2	1.000000	0.830000	1	9.600000e-01	0.990000	0.982670	0.990000	1.000000																										0				6						c.(91-93)Tca>Cca		sperm associated antigen 11B							79.0	88.0	85.0					8																	7320352		2000	3962	5962	SO:0001583	missense	10407	0	0					g.chr8:7320352A>G	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.91T>C	chr8.hg19:g.7320352A>G	ENSP00000297498:p.Ser31Pro	0					SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000317900.5_Missense_Mutation_p.S31P	p.S31P	NM_016512.3	NP_057596.1	0	0	0	1.973482	Q08648	SG11B_HUMAN		2	257	-			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	1	1	hg19	c.91T>C	CCDS5966.1	1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805612	0.31961	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.48201	1.41;0.82;1.41	2.59	-3.59	0.04583	2.59	-3.59	0.04583	.	.	.	.	.	T	0.48572	0.1507	L	0.36672	1.1	0.09310	N	1	B;B;D;D;D	0.76494	0.001;0.002;0.985;0.981;0.999	B;B;D;D;D	0.83275	0.001;0.003;0.976;0.959;0.996	T	0.40572	-0.9556	9	0.35671	T	0.21	.	4.2386	0.10637	0.2287:0.4068:0.3645:0.0	.	31;31;31;31;31	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	P	14;31;31;31;31;31	ENSP00000437154:S14P;ENSP00000354411:S31P;ENSP00000297498:S31P	ENSP00000297498:S31P	S	-	1	0	0	SPAG11B	7307762	7307762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.747000	0.04759	0.378000	0.23410	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	1	0	1		9	2	2	0		0	1	122		122	207	1	2.060000	-14.658590	1	0.170000	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207			48	44		454	390	0		1			0	0	122	0		9.999999e-01	0	0	0	0	0	0	48	454
SGK223	157285	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1391							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCGGGCTCCGCAGACGCCAG	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(4159-4161)gCg>gTg									37.0	46.0	43.0					8																	8175725		2019	4175	6194	SO:0001583	missense	0	0	0					g.chr8:8175725G>A																												ENST00000520004.1:c.4160C>T	chr8.hg19:g.8175725G>A	ENSP00000428054:p.Ala1387Val	0					SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V	p.A1387V			0	0	0	1.973482	Q86YV5	SG223_HUMAN		6	4424	-			Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	1	1	hg19	c.4160C>T	CCDS43706.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	0	AC068353.1	8213135	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000				92	92		363	361	0		1	1		0	0	77	0		1	1	0	37	0	101	0	92	363
SGK223	157285	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	G	T	rs369760194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGCCTCGCCGATGCGGATAC	0.716																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(3940-3942)atC>atA									25.0	28.0	27.0					8																	8175943		2041	4178	6219	SO:0001819	synonymous_variant	0	0	0					g.chr8:8175943G>T																												ENST00000520004.1:c.3942C>A	chr8.hg19:g.8175943G>T		0					SGK223_ENST00000330777.4_Silent_p.I1314I	p.I1314I			0	0	0	1.973482	Q86YV5	SG223_HUMAN		6	4206	-			Q8N3N5	Silent	SNP	ENST00000520004.1	1	1	hg19	c.3942C>A	CCDS43706.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	1	0	1		2	2	2	0		0	0	63		63	61	1	2.060000	-3.488562	1	0.170000				74	72		316	313	0		1	1		0	0	63	0		1	9.981735e-01	0	11	0	32	0	74	316
SGK223	157285	broad.mit.edu	37	8	8197103	8197103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8197103G>A	ENST00000520004.1	-	4	2469	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	SGK223_ENST00000330777.4_Silent_p.S735S			Q86YV5	SG223_HUMAN		737							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGAGCCCTGGCTCACTTTTT	0.502																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1	0.640000	0.240000	5.300000e-01	3.200000e-01	0.410000	0.431214	0.410000	0.410000																										0										c.(2203-2205)agC>agT									79.0	87.0	85.0					8																	8197103		1965	4146	6111	SO:0001819	synonymous_variant	0	0	0					g.chr8:8197103G>A																												ENST00000520004.1:c.2205C>T	chr8.hg19:g.8197103G>A		0					SGK223_ENST00000330777.4_Silent_p.S735S	p.S735S			0	0	0	1.973482	Q86YV5	SG223_HUMAN		4	2469	-			Q8N3N5	Silent	SNP	ENST00000520004.1	1	1	hg19	c.2205C>T	CCDS43706.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.254771	1	0.170000				15	15		409	403	0		1	1		0	0	61	0		9.998628e-01	7.526104e-01	0	2	0	73	0	15	409
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1023										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)		ACATTTACTCGCTCGCTGCCG	0.572																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				21						c.(3067-3069)Cga>Tga		malignant fibrous histiocytoma amplified sequence 1							124.0	94.0	104.0					8																	8654933		2203	4300	6503	SO:0001587	stop_gained	9258	1	121412	30				g.chr8:8654933G>A	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.3067C>T	chr8.hg19:g.8654933G>A	ENSP00000276282:p.Arg1023*	0					MFHAS1_ENST00000520091.1_5'UTR	p.R1023*	NM_004225.2	NP_004216.2	0	0	0	1.973482	Q9Y4C4	MFHA1_HUMAN		2	3653	-		Hepatocellular(245;0.217)	Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	0	1	hg19	c.3067C>T	CCDS34844.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.657551	0.99755	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	3.86	0.44501	5.73	3.86	0.44501	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.1014	0.65059	0.0:0.0:0.7402:0.2598	.	.	.	.	X	1023	.	ENSP00000276282:R1023X	R	-	1	2	2	MFHAS1	8692343	8692343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	0.705000	0.31890	0.551000	0.68910	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_004225			37	36		177	173	1		1	1		0	0	46	0		1	9.999778e-01	0	3	0	79	0	37	177
ERI1	90459	broad.mit.edu	37	8	8875870	8875870	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	216	Exonuclease.				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)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CTGGATGAAATTGAAGGAATT	0.294																																						ENST00000523898.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(646-648)Ttg>Ctg		exoribonuclease 1							53.0	56.0	55.0					8																	8875870		2203	4299	6502	SO:0001819	synonymous_variant	90459	0	0					g.chr8:8875870T>C	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.646T>C	chr8.hg19:g.8875870T>C		0					ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000519292.1_Silent_p.L216L	p.L216L			0	0	0	1.973482	Q8IV48	ERI1_HUMAN		6	1325	+			A8K4U7|Q9NSX3	Silent	SNP	ENST00000523898.1	1	1	hg19	c.646T>C	CCDS5972.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_153332			46	46		153	150	1		1	1		0	0	36	0		1	9.999986e-01	0	21	0	52	0	46	153
PPP1R3B	79660	broad.mit.edu	37	8	8998463	8998463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	PPP1R3B_ENST00000519699.1_Silent_p.I233I|RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	233	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483																																						ENST00000310455.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(697-699)atC>atA		protein phosphatase 1, regulatory subunit 3B							195.0	185.0	188.0					8																	8998463		2203	4300	6503	SO:0001819	synonymous_variant	79660	0	0					g.chr8:8998463G>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.699C>A	chr8.hg19:g.8998463G>T		0					RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I233I	p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	0	0	0	1.973482	Q86XI6	PPR3B_HUMAN		2	849	-			B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	1	1	hg19	c.699C>A	CCDS5973.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-3.476145	1	0.170000	NM_024607			80	80		343	336	1		1	1		0	0	72	0		1	1	0	36	0	73	0	80	343
TNKS	8658	broad.mit.edu	37	8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000310430.6	+	5	1083	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	353					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299																																						ENST00000310430.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1057-1059)Gct>Act		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							88.0	95.0	92.0					8																	9538260		2203	4300	6503	SO:0001583	missense	8658	1	121408	29				g.chr8:9538260G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1057G>A	chr8.hg19:g.9538260G>A	ENSP00000311579:p.Ala353Thr	0					TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T	p.A353T	NM_003747.2	NP_003738.2	0	0	0	1.973482	O95271	TNKS1_HUMAN		5	1083	+			O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	1	1	hg19	c.1057G>A	CCDS5974.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998546	0.74818	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.21932	2.41;2.41;1.98	5.83	5.83	0.93111	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.33485	1.01	0.80722	D	1	D;B	0.56035	0.974;0.008	P;B	0.62014	0.897;0.027	T	0.00832	-1.1548	10	0.26408	T	0.33	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	353;353	E7EWY6;O95271	.;TNKS1_HUMAN	T	353;353;116	ENSP00000428299:A353T;ENSP00000311579:A353T;ENSP00000429890:A116T	ENSP00000311579:A353T	A	+	1	0	0	TNKS	9575670	9575670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.081000	0.76844	2.747000	0.94245	0.585000	0.79938	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_003747			60	59		315	310	1		1	1		0	0	107	0		1	9.885641e-01	0	7	0	32	0	60	315
TNKS	8658	broad.mit.edu	37	8	9605704	9605704	+	Silent	SNP	G	G	A	rs376610791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000310430.6	+	18	2840	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_ENST00000518281.1_Silent_p.T701T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	938					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522																																						ENST00000310430.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(2812-2814)acG>acA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G		0,4406		0,0,2203	79.0	72.0	75.0		2814	-1.6	1.0	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNKS	NM_003747.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		938/1328	9605704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8658	3	121410	37				g.chr8:9605704G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2814G>A	chr8.hg19:g.9605704G>A		0					TNKS_ENST00000518281.1_Silent_p.T701T	p.T938T	NM_003747.2	NP_003738.2	0	0	0	1.973482	O95271	TNKS1_HUMAN		18	2840	+			O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	1	1	hg19	c.2814G>A	CCDS5974.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_003747			43	43		161	160	1		1	1		0	0	25	0		1	9.980765e-01	0	9	0	30	0	43	161
TNKS	8658	broad.mit.edu	37	8	9623249	9623249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000310430.6	+	24	3521	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_ENST00000518281.1_Silent_p.R928R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1165	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463																																						ENST00000310430.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999969	0.990000	1.000000																										0				49						c.(3493-3495)cgA>cgG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							121.0	106.0	111.0					8																	9623249		2203	4300	6503	SO:0001819	synonymous_variant	8658	0	0					g.chr8:9623249A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3495A>G	chr8.hg19:g.9623249A>G		0					TNKS_ENST00000518281.1_Silent_p.R928R	p.R1165R	NM_003747.2	NP_003738.2	0	0	0	1.973482	O95271	TNKS1_HUMAN		24	3521	+			O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	1	1	hg19	c.3495A>G	CCDS5974.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-19.871510	1	0.170000	NM_003747			44	43		266	258	1		1	1		0	0	84	0		1	9.966156e-01	0	10	0	45	0	44	266
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383																																						ENST00000310430.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R1200Q(2)	lung(2)	49						c.(3598-3600)cGa>cAa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							105.0	104.0	104.0					8																	9623794		2203	4300	6503	SO:0001583	missense	8658	1	121412	23				g.chr8:9623794G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3599G>A	chr8.hg19:g.9623794G>A	ENSP00000311579:p.Arg1200Gln	0					TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	p.R1200Q	NM_003747.2	NP_003738.2	0	0	0	1.973482	O95271	TNKS1_HUMAN		25	3625	+			O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	1	1	hg19	c.3599G>A	CCDS5974.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	0	TNKS	9661204	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-3.339242	1	0.170000	NM_003747			95	91		460	450	1		1	1		0	0	120	0		1	9.999651e-01	0	16	0	57	0	95	460
TNKS	8658	broad.mit.edu	37	8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000310430.6	+	26	3843	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1273	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453																																						ENST00000310430.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(3817-3819)Cca>Tca		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							72.0	66.0	68.0					8																	9627692		2203	4299	6502	SO:0001583	missense	8658	0	0					g.chr8:9627692C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3817C>T	chr8.hg19:g.9627692C>T	ENSP00000311579:p.Pro1273Ser	0					TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	p.P1273S	NM_003747.2	NP_003738.2	0	0	0	1.973482	O95271	TNKS1_HUMAN		26	3843	+			O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	1	1	hg19	c.3817C>T	CCDS5974.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072626	0.76415	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.13657	2.57;2.57;2.59	5.18	5.18	0.71444	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29181	-1.0020	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1273	O95271	TNKS1_HUMAN	S	1273;1036;18	ENSP00000311579:P1273S;ENSP00000429890:P1036S;ENSP00000428185:P18S	ENSP00000311579:P1273S	P	+	1	0	0	TNKS	9665102	9665102	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	7.768000	0.85345	2.595000	0.87683	0.655000	0.94253	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-3.009607	1	0.170000	NM_003747			56	55		242	237	1		1	1		0	0	47	0		1	9.999400e-01	0	15	0	50	0	56	242
MSR1	4481	broad.mit.edu	37	8	16026093	16026093	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000262101.5	-	4	625	c.504A>G	c.(502-504)ggA>ggG	p.G168G	MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	168					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378																																						ENST00000262101.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G168G(1)	large_intestine(1)	37						c.(502-504)ggA>ggG		macrophage scavenger receptor 1							180.0	167.0	171.0					8																	16026093		2203	4300	6503	SO:0001819	synonymous_variant	4481	0	0					g.chr8:16026093T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.504A>G	chr8.hg19:g.16026093T>C		0					MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G	p.G168G			0	0	0	1.973482	P21757	MSRE_HUMAN		4	625	-			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	1	1	hg19	c.504A>G	CCDS5995.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000				77	76		354	345	1		1	0		0	0	82	0		1	1	0	0	0	361	0	77	354
MSR1	4481	broad.mit.edu	37	8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000262101.5	-	4	384	c.263C>T	c.(262-264)aCt>aTt	p.T88I	MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	88	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378																																						ENST00000262101.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(262-264)aCt>aTt		macrophage scavenger receptor 1							163.0	152.0	156.0					8																	16026334		2203	4300	6503	SO:0001583	missense	4481	0	0					g.chr8:16026334G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.263C>T	chr8.hg19:g.16026334G>A	ENSP00000262101:p.Thr88Ile	0					MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I	p.T88I			0	0	0	1.973482	P21757	MSRE_HUMAN		4	384	-			D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	1	1	hg19	c.263C>T	CCDS5995.1	1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332970	0.01298	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.89681	-0.59;-1.97;-0.59;-0.59;-2.55	4.44	-6.07	0.02158	4.44	-6.07	0.02158	.	1.747220	0.02794	N	0.122370	T	0.72614	0.3482	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.64002	-0.6509	10	0.24483	T	0.36	.	9.7211	0.40304	0.2402:0.1439:0.6159:0.0	.	106;88;88;88	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	88;88;106;88;88	ENSP00000262100:T88I;ENSP00000262101:T88I;ENSP00000405453:T106I;ENSP00000347430:T88I;ENSP00000371428:T88I	ENSP00000262101:T88I	T	-	2	0	0	MSR1	16070705	16070705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.113000	0.02981	-0.355000	0.07637	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000				98	97		421	409	1		1	0		0	0	111	0		1	1	0	0	0	373	0	98	421
ZDHHC2	51201	broad.mit.edu	37	8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	128					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368																																						ENST00000262096.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(382-384)taC>taA		zinc finger, DHHC-type containing 2							146.0	143.0	144.0					8																	17055101		1913	4141	6054	SO:0001587	stop_gained	51201	0	0					g.chr8:17055101C>A	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.384C>A	chr8.hg19:g.17055101C>A	ENSP00000262096:p.Tyr128*	0						p.Y128*	NM_016353.4	NP_057437.1	0	0	0	1.973482	Q9UIJ5	ZDHC2_HUMAN		5	1079	+			D3DSP5	Nonsense_Mutation	SNP	ENST00000262096.8	0	1	hg19	c.384C>A	CCDS47810.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685509	0.68157	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	.	.	.	4.3	-3.91	0.04168	4.3	-3.91	0.04168	.	0.278379	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	0.0:0.7656:0.0:0.2344	.	.	.	.	X	128;83	.	ENSP00000262096:Y128X	Y	+	3	2	2	ZDHHC2	17099472	17099472	0.978000	0.34361	0.966000	0.40874	0.907000	0.53573	0.176000	0.16782	-0.577000	0.05967	-0.691000	0.03719	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000	NM_016353			116	114		498	489	1		1	1		0	0	127	0		1	1	0	4	0	129	0	116	498
ZDHHC2	51201	broad.mit.edu	37	8	17055914	17055914	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259																																						ENST00000262096.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999401	0.990000	1.000000																										0				8						c.(466-468)caT>caC		zinc finger, DHHC-type containing 2							159.0	144.0	148.0					8																	17055914		1824	4085	5909	SO:0001819	synonymous_variant	51201	0	0					g.chr8:17055914T>C	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.468T>C	chr8.hg19:g.17055914T>C		0						p.H156H	NM_016353.4	NP_057437.1	0	0	0	1.973482	Q9UIJ5	ZDHC2_HUMAN		6	1163	+			D3DSP5	Silent	SNP	ENST00000262096.8	1	1	hg19	c.468T>C	CCDS47810.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.259	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-13.166520	1	0.170000	NM_016353			22	22		124	119	1		1	1		0	0	28	0		9.999990e-01	9.999893e-01	0	47	0	66	0	22	124
VPS37A	137492	broad.mit.edu	37	8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V|VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	90					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)				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)		ACGACATCACTTAATGGATAA	0.343																																						ENST00000324849.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				10						c.(268-270)Tta>Gta		vacuolar protein sorting 37 homolog A (S. cerevisiae)							122.0	115.0	117.0					8																	17125834		2203	4300	6503	SO:0001583	missense	137492	0	0					g.chr8:17125834T>G		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.268T>G	chr8.hg19:g.17125834T>G	ENSP00000318629:p.Leu90Val	0					VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	p.L90V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	0	0	0	1.973482	Q8NEZ2	VP37A_HUMAN		3	942	+			Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	1	1	hg19	c.268T>G	CCDS6001.1	1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319355	0.60524	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56941	0.43;0.43	4.8	3.64	0.41730	4.8	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	L	0.60455	1.87	0.46725	D	0.999173	D;D	0.71674	0.998;0.997	D;D	0.78314	0.941;0.991	T	0.61402	-0.7070	10	0.42905	T	0.14	-11.377	8.205	0.31449	0.0:0.2322:0.0:0.7678	.	65;90	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	V	90;90;101;65	ENSP00000318629:L90V;ENSP00000429680:L65V	ENSP00000318173:L90V	L	+	1	2	2	VPS37A	17170205	17170205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.858000	0.48356	0.935000	0.37341	0.533000	0.62120	TTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	0	0	1		12	5	2	1		1	1	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_152415			52	52		279	275	1		1	1		1	0	113	0		1	9.940664e-01	0	19	0	60	0	52	279
VPS37A	137492	broad.mit.edu	37	8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S|VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	160					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)				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)		ATTTCTTCCTCCATATCCTCC	0.403																																						ENST00000324849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(478-480)Cca>Tca		vacuolar protein sorting 37 homolog A (S. cerevisiae)							100.0	86.0	91.0					8																	17132303		2203	4300	6503	SO:0001583	missense	137492	1	121412	27				g.chr8:17132303C>T		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.478C>T	chr8.hg19:g.17132303C>T	ENSP00000318629:p.Pro160Ser	0					VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	p.P160S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	0	0	0	1.973482	Q8NEZ2	VP37A_HUMAN		5	1152	+			Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	1	1	hg19	c.478C>T	CCDS6001.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.086205|2.086205	0.36855|0.36855	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.56611|.	0.45;0.5|.	4.25|4.25	0.217|0.217	0.15264|0.15264	4.25|4.25	0.217|0.217	0.15264|0.15264	.|.	0.637270|.	0.16206|.	N|.	0.224693|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.15975|0.15975	0.35|0.35	0.24058|0.24058	N|N	0.996027|0.996027	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|6	0.16896|0.87932	T|D	0.51|0	-1.0447|-1.0447	7.02|7.02	0.24908|0.24908	0.0:0.6541:0.1255:0.2204|0.0:0.6541:0.1255:0.2204	.|.	135;160|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|F	160;135|169	ENSP00000318629:P160S;ENSP00000429680:P135S|.	ENSP00000318629:P160S|ENSP00000318173:S169F	P|S	+|+	1|2	0|0	0|0	VPS37A|VPS37A	17176674|17176674	17176674|17176674	0.965000|0.965000	0.33210|0.33210	0.797000|0.797000	0.32132|0.32132	0.721000|0.721000	0.41392|0.41392	-0.000000|-0.000000	0.12993|0.12993	0.028000|0.028000	0.15324|0.15324	0.579000|0.579000	0.79373|0.79373	CCA|TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-3.127907	1	0.170000	NM_152415			59	58		282	269	1		1	1		0	0	59	0		1	1	0	35	0	112	0	59	282
VPS37A	137492	broad.mit.edu	37	8	17132334	17132334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324849.4	+	5	1183	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S|VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	170					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)				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)		AACAGGAGTATCACTTCTTTA	0.438																																						ENST00000324849.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(508-510)aTc>aGc		vacuolar protein sorting 37 homolog A (S. cerevisiae)							125.0	106.0	112.0					8																	17132334		2203	4300	6503	SO:0001583	missense	137492	0	0					g.chr8:17132334T>G		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.509T>G	chr8.hg19:g.17132334T>G	ENSP00000318629:p.Ile170Ser	0					VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*|VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S	p.I170S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	0	0	0	1.973482	Q8NEZ2	VP37A_HUMAN		5	1183	+			Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	0	0	hg19	c.509T>G	CCDS6001.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.959567|2.959567	0.53400|0.53400	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.54279|.	0.58;0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	1.238420|.	0.05339|.	N|.	0.529836|.	T|.	0.24084|.	0.0583|.	N|N	0.14661|0.14661	0.345|0.345	0.21256|0.21256	N|N	0.999748|0.999748	B;B|.	0.19200|.	0.034;0.006|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.08146|.	-1.0736|.	10|.	0.07644|0.02654	T|T	0.81|1	-2.6082|-2.6082	12.9954|12.9954	0.58644|0.58644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	145;170|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|X	170;145|179	ENSP00000318629:I170S;ENSP00000429680:I145S|.	ENSP00000318629:I170S|ENSP00000318173:Y179X	I|Y	+|+	2|3	0|2	0|2	VPS37A|VPS37A	17176705|17176705	17176705|17176705	0.959000|0.959000	0.32827|0.32827	0.050000|0.050000	0.19076|0.19076	0.793000|0.793000	0.44817|0.44817	2.537000|2.537000	0.45702|0.45702	2.154000|2.154000	0.67381|0.67381	0.472000|0.472000	0.43445|0.43445	ATC|TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_152415			75	72		318	312	1		1	1		0	0	62	0		1	1	0	35	0	113	0	75	318
MTMR7	9108	broad.mit.edu	37	8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T	rs527918462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	92					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.D92N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATGTACACGTCGTGGCAATCT	0.463																																						ENST00000180173.5	1.000000	0.550000	9.500000e-01	6.600000e-01	0.800000	0.806951	0.800000	1.000000																										1	Substitution - Missense(1)	p.D92N(1)	skin(1)	32						c.(274-276)Gac>Aac		myotubularin related protein 7							144.0	131.0	135.0					8																	17228582		2203	4300	6503	SO:0001583	missense	9108	5	121412	41				g.chr8:17228582C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.274G>A	chr8.hg19:g.17228582C>T	ENSP00000180173:p.Asp92Asn	0					MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	p.D92N	NM_004686.4	NP_004677.3	0	0	0	1.973482	Q9Y216	MTMR7_HUMAN		3	308	-			A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	1	1	hg19	c.274G>A	CCDS34851.1	0	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542767	0.45280	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.82526	-1.62;-1.62	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.092239	0.64402	N	0.000001	T	0.78997	0.4372	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.72554	-0.4258	10	0.25106	T	0.35	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	92	Q9Y216	MTMR7_HUMAN	N	92	ENSP00000180173:D92N;ENSP00000429733:D92N	ENSP00000180173:D92N	D	-	1	0	0	MTMR7	17272953	17272953	1.000000	0.71417	0.280000	0.24747	0.455000	0.32408	4.592000	0.61027	2.602000	0.87976	0.655000	0.94253	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-7.728546	1	0.170000	NM_004686			30	30		405	397	0		1			0	0	98	0		1	0	0	0	0	0	0	30	405
SLC7A2	6542	broad.mit.edu	37	8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G	rs181290750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000494857.1	+	13	2092	c.1874T>G	c.(1873-1875)gTt>gGt	p.V625G	SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000470360.1_Missense_Mutation_p.V664G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	625					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		21406	0.001		0.0	False		,,,				2504	0.0					ENST00000494857.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				25						c.(1873-1875)gTt>gGt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						112.0	95.0	101.0					8																	17422552		2203	4300	6503	SO:0001583	missense	6542	6	121408	38				g.chr8:17422552T>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1874T>G	chr8.hg19:g.17422552T>G	ENSP00000419140:p.Val625Gly	0					SLC7A2_ENST00000470360.1_Missense_Mutation_p.V664G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G	p.V625G	NM_001008539.3	NP_001008539.3	0	0	0	1.973482	P52569	CTR2_HUMAN		13	2092	+			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	1	1	hg19	c.1874T>G	CCDS34852.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.597	-0.830718	0.02734	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88354	-2.19;-2.19;-2.37;-2.22;-2.37	5.11	-0.393	0.12438	5.11	-0.393	0.12438	.	1.923250	0.01901	N	0.039188	T	0.79125	0.4393	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.004	B;B;B	0.19666	0.001;0.026;0.005	T	0.65278	-0.6207	10	0.23302	T	0.38	.	5.3749	0.16160	0.0:0.1784:0.4299:0.3916	.	665;664;625	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	G	625;625;664;665;664	ENSP00000419140:V625G;ENSP00000430464:V625G;ENSP00000419873:V664G;ENSP00000004531:V665G;ENSP00000381164:V664G	ENSP00000004531:V665G	V	+	2	0	0	SLC7A2	17466826	17466826	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.558000	0.05978	0.123000	0.18342	-0.263000	0.10527	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-19.569790	1	0.170000	NM_003046			35	35		172	171	1		1	0		0	0	36	0		1	9.718529e-01	0	0	0	31	0	35	172
MTUS1	57509	broad.mit.edu	37	8	17611250	17611250	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000262102.6	-	2	2291	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381869.3_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	689					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)				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)		CATATTCAAAAGTCTCATTCA	0.328																																						ENST00000262102.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				36						c.(2065-2067)acT>acC		microtubule associated tumor suppressor 1							111.0	93.0	99.0					8																	17611250		1814	4072	5886	SO:0001819	synonymous_variant	57509	0	0					g.chr8:17611250A>G	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.2067T>C	chr8.hg19:g.17611250A>G		0					MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T|MTUS1_ENST00000381869.3_Silent_p.T689T	p.T689T	NM_001001924.2	NP_001001924.1	0	0	0	1.973482	Q9ULD2	MTUS1_HUMAN		2	2291	-			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	1	1	hg19	c.2067T>C	CCDS43717.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-17.306650	1	0.170000	XM_372031			32	32		174	173	1		1	1		0	0	31	0		1	9.999963e-01	0	50	0	61	0	32	174
MTUS1	57509	broad.mit.edu	37	8	17612546	17612546	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000262102.6	-	2	995	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	257					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)				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)		CAATATCTGAAACAAAAACCT	0.413																																						ENST00000262102.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(769-771)gtT>gtC		microtubule associated tumor suppressor 1							193.0	174.0	180.0					8																	17612546		1943	4147	6090	SO:0001819	synonymous_variant	57509	0	0					g.chr8:17612546A>G	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.771T>C	chr8.hg19:g.17612546A>G		0					MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V	p.V257V	NM_001001924.2	NP_001001924.1	0	0	0	1.973482	Q9ULD2	MTUS1_HUMAN		2	995	-			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	1	1	hg19	c.771T>C	CCDS43717.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	1	0	1		2	2	2	0		0	0	132		132	132	1	2.060000	-20.000000	1	0.170000	XM_372031			127	122		619	608	1		1	1		0	0	132	0		1	9.999978e-01	0	30	0	60	0	127	619
FGL1	2267	broad.mit.edu	37	8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1	231	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453																																						ENST00000398056.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(691-693)agA>agC		fibrinogen-like 1							156.0	143.0	148.0					8																	17726143		2203	4300	6503	SO:0001583	missense	2267	0	0					g.chr8:17726143T>G	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.693A>C	chr8.hg19:g.17726143T>G	ENSP00000381133:p.Arg231Ser	0					FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S	p.R231S			0	0	0	1.973482	Q08830	FGL1_HUMAN		9	1508	-			A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	1	1	hg19	c.693A>C	CCDS6004.1	1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573112	0.45902	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.57	-1.8	0.07907	4.57	-1.8	0.07907	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.146424	0.64402	D	0.000012	T	0.09949	0.0244	N	0.11724	0.165	0.30491	N	0.771345	B;B;B	0.29212	0.237;0.166;0.016	B;B;B	0.34590	0.186;0.096;0.011	T	0.12502	-1.0545	10	0.44086	T	0.13	.	5.089	0.14698	0.1293:0.3438:0.0:0.5269	.	201;231;231	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	S	231;231;201;231;231;231;231;231;231	ENSP00000381133:R231S;ENSP00000429757:R231S;ENSP00000371263:R231S;ENSP00000401952:R231S;ENSP00000381131:R231S;ENSP00000371262:R231S;ENSP00000428430:R231S	ENSP00000221204:R231S	R	-	3	2	2	FGL1	17770423	17770423	0.994000	0.37717	0.946000	0.38457	0.905000	0.53344	0.305000	0.19254	-0.369000	0.08028	0.477000	0.44152	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	1	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-20.000000	1	0.170000	NM_004467			138	138		610	604	1		1	0		0	0	122	0		1	8.217468e-01	0	0	0	16	0	138	610
PCM1	5108	broad.mit.edu	37	8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000519253.1	+	34	5712	c.5461A>G	c.(5461-5463)Act>Gct	p.T1821A	PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A			Q15154	PCM1_HUMAN	pericentriolar material 1	1829					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)		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)		CACTGAAGCTACTGAAGAAAA	0.393			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000519253.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000				Dom	yes			Dom	yes		8	8p22-p21.3	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)				"""E, L"""	E, L	RET, JAK2		papillary thyroid, CML, MPD	PCM1/JAK2(30)	0				48						c.(5461-5463)Act>Gct		pericentriolar material 1							132.0	134.0	133.0					8																	17869310		1920	4127	6047	SO:0001583	missense	5108	0	0					g.chr8:17869310A>G		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.5461A>G	chr8.hg19:g.17869310A>G	ENSP00000431099:p.Thr1821Ala	0					PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A	p.T1821A			0	0	0	1.973482	Q15154	PCM1_HUMAN		34	5712	+			Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	1	1	hg19	c.5461A>G		1	.	.	.	.	.	.	.	.	.	.	A	7.488	0.649995	0.14516	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.32	1.26	0.21427	5.32	1.26	0.21427	.	0.627807	0.17034	N	0.189614	T	0.27967	0.0689	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.003;0.002;0.001;0.004;0.002	T	0.18840	-1.0324	10	0.18276	T	0.48	-2.9531	5.6939	0.17845	0.4667:0.1901:0.3432:0.0	.	1821;1829;628;1821;1774;1775;1829	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	A	1829;1821;1775;528	ENSP00000327077:T1829A;ENSP00000431099:T1821A;ENSP00000430521:T1775A;ENSP00000328332:T528A	ENSP00000327077:T1829A	T	+	1	0	0	PCM1	17913590	17913590	0.000000	0.05858	0.864000	0.33941	0.897000	0.52465	-0.088000	0.11198	0.415000	0.25817	0.533000	0.62120	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-19.852650	1	0.170000	NM_006197			36	36		173	167	1		1	1		0	0	39	0		1	1	0	47	0	170	0	36	173
PCM1	5108	broad.mit.edu	37	8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A	rs565494296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000519253.1	+	36	5947	c.5696G>A	c.(5695-5697)cGt>cAt	p.R1899H	PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					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)		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)		TTGCCGTTACGTTTACCTGAA	0.438			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000519253.1	1.000000	0.420000	1	5.900000e-01	0.810000	0.802267	0.810000	1.000000				Dom	yes			Dom	yes		8	8p22-p21.3	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)				"""E, L"""	E, L	RET, JAK2		papillary thyroid, CML, MPD	PCM1/JAK2(30)	0				48						c.(5695-5697)cGt>cAt		pericentriolar material 1							92.0	86.0	88.0					8																	17872228		1885	4111	5996	SO:0001583	missense	5108	13	120828	39				g.chr8:17872228G>A		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.5696G>A	chr8.hg19:g.17872228G>A	ENSP00000431099:p.Arg1899His	0					PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000524226.1_Intron	p.R1899H			0	0	0	1.973482	Q15154	PCM1_HUMAN		36	5947	+			Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	1	1	hg19	c.5696G>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840949|2.840949	0.51057|0.51057	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.17370|.	3.66;3.66;2.28|.	4.65|4.65	3.78|3.78	0.43462|0.43462	4.65|4.65	3.78|3.78	0.43462|0.43462	.|.	0.385114|.	0.28946|.	N|.	0.013636|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.03608|0.03608	-0.345|-0.345	0.20074|0.20074	N|N	0.999939|0.999939	P;P;B;P;P;P|.	0.45126|.	0.851;0.851;0.226;0.851;0.799;0.851|.	B;B;B;B;B;B|.	0.40534|.	0.332;0.332;0.004;0.332;0.121;0.332|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.72032|.	D|.	0.01|.	-6.3064|-6.3064	14.2484|14.2484	0.66004|0.66004	0.0:0.849:0.151:0.0|0.0:0.849:0.151:0.0	.|.	1899;1907;706;1899;1852;1907|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	H|I	1907;1899;606|647	ENSP00000327077:R1907H;ENSP00000431099:R1899H;ENSP00000328332:R606H|.	ENSP00000327077:R1907H|.	R|V	+|+	2|1	0|0	0|0	PCM1|PCM1	17916508|17916508	17916508|17916508	0.996000|0.996000	0.38824|0.38824	0.965000|0.965000	0.40720|0.40720	0.839000|0.839000	0.47603|0.47603	1.811000|1.811000	0.38942|0.38942	1.576000|1.576000	0.49790|0.49790	-0.234000|-0.234000	0.12200|0.12200	CGT|GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-14.412540	1	0.170000	NM_006197			10	10		134	133	0		1	1		0	0	34	0		9.971058e-01	9.998843e-01	0	21	0	225	0	10	134
PCM1	5108	broad.mit.edu	37	8	17883088	17883088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17883088G>T	ENST00000519253.1	+	38	6197	c.5946G>T	c.(5944-5946)caG>caT	p.Q1982H	PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H|PCM1_ENST00000325083.8_Missense_Mutation_p.Q1990H			Q15154	PCM1_HUMAN	pericentriolar material 1	1990	Interaction with BBS4.				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)		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)		AAGAAGAACAGAAAAACCATT	0.289			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000519253.1	1.000000	0.760000	1	9.900000e-01	0.990000	0.983470	0.990000	1.000000				Dom	yes			Dom	yes		8	8p22-p21.3	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)				"""E, L"""	E, L	RET, JAK2		papillary thyroid, CML, MPD	PCM1/JAK2(30)	0				48						c.(5944-5946)caG>caT		pericentriolar material 1							42.0	39.0	40.0					8																	17883088		1810	4057	5867	SO:0001583	missense	5108	0	0					g.chr8:17883088G>T		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.5946G>T	chr8.hg19:g.17883088G>T	ENSP00000431099:p.Gln1982His	0					PCM1_ENST00000325083.8_Missense_Mutation_p.Q1990H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H	p.Q1982H			0	0	0	1.973482	Q15154	PCM1_HUMAN		38	6197	+			Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	0	1	hg19	c.5946G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115436|3.115436	0.56505|0.56505	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.24350|.	3.23;3.23;2.94;1.86|.	5.42|5.42	3.59|3.59	0.41128|0.41128	5.42|5.42	3.59|3.59	0.41128|0.41128	.|.	0.286130|.	0.39909|.	N|.	0.001223|.	T|T	0.54334|0.54334	0.1852|0.1852	L|L	0.50333|0.50333	1.59|1.59	0.48901|0.48901	D|D	0.999721|0.999721	P;P;P;P;B;B;P|.	0.40875|.	0.731;0.731;0.731;0.731;0.003;0.001;0.731|.	B;B;B;B;B;B;B|.	0.40228|.	0.256;0.256;0.323;0.256;0.01;0.006;0.256|.	T|T	0.48340|0.48340	-0.9044|-0.9044	10|5	0.72032|.	D|.	0.01|.	-1.1301|-1.1301	5.4438|5.4438	0.16523|0.16523	0.2254:0.0:0.6288:0.1458|0.2254:0.0:0.6288:0.1458	.|.	1982;1990;789;1982;1935;1826;1990|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1990;1982;1826;689|730	ENSP00000327077:Q1990H;ENSP00000431099:Q1982H;ENSP00000430521:Q1826H;ENSP00000328332:Q689H|.	ENSP00000327077:Q1990H|.	Q|R	+|+	3|2	2|0	2|0	PCM1|PCM1	17927368|17927368	17927368|17927368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.981000|1.981000	0.40628|0.40628	0.754000|0.754000	0.32968|0.32968	-0.233000|-0.233000	0.12211|0.12211	CAG|AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-15.598170	1	0.170000	NM_006197			8	8		47	46	1		1	1		0	0	10	0		9.905174e-01	9.999889e-01	0	33	0	148	0	8	47
ASAH1	427	broad.mit.edu	37	8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	296					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)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388																																						ENST00000262097.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(886-888)Cga>Tga		N-acylsphingosine amidohydrolase (acid ceramidase) 1							157.0	155.0	156.0					8																	17917112		2203	4300	6503	SO:0001587	stop_gained	427	1	121410	37				g.chr8:17917112G>A	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.886C>T	chr8.hg19:g.17917112G>A	ENSP00000262097:p.Arg296*	0					ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*|ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*	p.R296*	NM_177924.3	NP_808592.2	0	0	0	1.973482	Q13510	ASAH1_HUMAN		11	1197	-			E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP	ENST00000262097.6	0	1	hg19	c.886C>T	CCDS6006.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.373901	0.97515	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.11	3.25	0.37280	5.11	3.25	0.37280	.	0.097792	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4388	13.7377	0.62829	0.0:0.0:0.6919:0.3081	.	.	.	.	X	296;312;271;206;290	.	ENSP00000262097:R296X	R	-	1	2	2	ASAH1	17961392	17961392	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.721000	0.61951	0.799000	0.34018	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	0	0	0		18	24	2	1		1	1	117		117	117	1	2.060000	-20.000000	1	0.170000	NM_004315			97	95		523	512	1		1	0		1	0	117	0		1	1	0	3	0	895	0	97	523
NAT2	10	broad.mit.edu	37	8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TATAACCACATCATTTTGTTC	0.368									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(661-663)Tca>Gca		N-acetyltransferase 2 (arylamine N-acetyltransferase)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)						83.0	87.0	85.0					8																	18258174		2203	4300	6503	SO:0001583	missense	10	0	0		Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	g.chr8:18258174T>G	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.661T>G	chr8.hg19:g.18258174T>G	ENSP00000286479:p.Ser221Ala	0					NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	p.S221A	NM_000015.2	NP_000006.2	0	0	0	1.973482	P11245	ARY2_HUMAN		2	768	+			O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	1	1	hg19	c.661T>G	CCDS6008.1	1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033049	0.19590	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01767	4.65;4.65	2.67	2.67	0.31697	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.91972	3.26	0.23747	N	0.996957	D	0.76494	0.999	D	0.81914	0.995	T	0.02275	-1.1184	10	0.62326	D	0.03	.	7.2032	0.25893	0.0:0.0:0.0:1.0	.	221	A4Z6T7	.	A	221;91	ENSP00000286479:S221A;ENSP00000428416:S91A	ENSP00000286479:S221A	S	+	1	0	0	NAT2	18302454	18302454	1.000000	0.71417	0.020000	0.16555	0.098000	0.18820	3.553000	0.53713	1.462000	0.47948	0.358000	0.22013	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_000015			87	86		401	398	1		1	0		0	0	96	0		1	0	0	0	0	1	0	87	401
PSD3	23362	broad.mit.edu	37	8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000327040.8	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000440756.2_Missense_Mutation_p.M481I|PSD3_ENST00000523619.1_Missense_Mutation_p.M416I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	481					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)			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)		GCTGTTGTATCATTGGAGTGA	0.458																																						ENST00000327040.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(1441-1443)atG>atA		pleckstrin and Sec7 domain containing 3							201.0	195.0	197.0					8																	18725375		2030	4185	6215	SO:0001583	missense	23362	1	120902	32				g.chr8:18725375C>T	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.1443G>A	chr8.hg19:g.18725375C>T	ENSP00000324127:p.Met481Ile	0					PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000440756.2_Missense_Mutation_p.M481I	p.M481I	NM_015310.3	NP_056125.3	0	0	0	1.973482	Q9NYI0	PSD3_HUMAN		4	1545	-			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	1	1	hg19	c.1443G>A	CCDS43720.1	1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416430	0.62511	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.32530	0.975	0.42160	D	0.991596	B	0.29716	0.255	B	0.27608	0.081	T	0.09684	-1.0663	10	0.45353	T	0.12	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	481	E9KL50	.	I	481;481;416	ENSP00000324127:M481I;ENSP00000401704:M481I;ENSP00000430640:M416I	ENSP00000324127:M481I	M	-	3	0	0	PSD3	18769655	18769655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_015310			147	144		583	572	1		1	1		0	0	158	0		1	9.994884e-01	0	11	0	35	0	147	583
CSGALNACT1	55790	broad.mit.edu	37	8	19315993	19315993	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|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)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443																																						ENST00000454498.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(793-795)gtT>gtC		chondroitin sulfate N-acetylgalactosaminyltransferase 1							379.0	351.0	361.0					8																	19315993		2203	4300	6503	SO:0001819	synonymous_variant	55790	0	0					g.chr8:19315993A>G	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.795T>C	chr8.hg19:g.19315993A>G		0					CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000518542.1_5'UTR	p.V265V	NM_001130518.1	NP_001123990.1	0	0	0	1.973482	Q8TDX6	CGAT1_HUMAN		5	1808	-			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	1	1	hg19	c.795T>C	CCDS6010.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	1	0	1		2	2	2	0		0	0	280		280	277	1	2.060000	-20.000000	1	0.170000	NM_018371			305	302		1395	1368	1		1	1		0	0	280	0		1	9.894690e-01	0	6	0	28	0	305	1395
INTS10	55174	broad.mit.edu	37	8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	28					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682																																						ENST00000397977.3	1.000000	0.420000	1	6.600000e-01	0.970000	0.871349	0.970000	1.000000																										0				20						c.(82-84)tgG>tgA		integrator complex subunit 10							16.0	23.0	20.0					8																	19675132		2060	4210	6270	SO:0001587	stop_gained	55174	0	0					g.chr8:19675132G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.84G>A	chr8.hg19:g.19675132G>A	ENSP00000381064:p.Trp28*	0					INTS10_ENST00000521758.1_3'UTR	p.W28*	NM_018142.2	NP_060612.2	0	0	0	1.973482	Q9NVR2	INT10_HUMAN		1	482	+			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Nonsense_Mutation	SNP	ENST00000397977.3	0	1	hg19	c.84G>A	CCDS6011.2	1	.	.	.	.	.	.	.	.	.	.	G	42	9.770182	0.99259	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2863	17.7262	0.88366	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000381064:W28X	W	+	3	0	0	INTS10	19719412	19719412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.541000	0.90644	2.598000	0.87819	0.563000	0.77884	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-11.184770	1	0.170000	NM_018142			6	6		65	65	0		1	1		0	0	15	0		9.671947e-01	9.921101e-01	0	18	0	88	0	6	65
INTS10	55174	broad.mit.edu	37	8	19681555	19681555	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	279					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353																																						ENST00000397977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(835-837)cGa>cAa		integrator complex subunit 10							113.0	107.0	109.0					8																	19681555		1855	4089	5944	SO:0001630	splice_region_variant	55174	0	0					g.chr8:19681555G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.836+1G>A	chr8.hg19:g.19681555G>A		0						p.R279Q	NM_018142.2	NP_060612.2	0	0	0	1.973482	Q9NVR2	INT10_HUMAN		7	1234	+			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Splice_Site	SNP	ENST00000397977.3	1	0	hg19	c.836G>A	CCDS6011.2	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876160	0.91664	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73388	-0.3998	9	0.51188	T	0.08	-10.739	18.5013	0.90882	0.0:0.0:1.0:0.0	.	279	Q9NVR2	INT10_HUMAN	Q	279	.	ENSP00000381064:R279Q	R	+	2	0	0	INTS10	19725835	19725835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.717000	0.92951	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-2.540381	1	0.170000	NM_018142	Missense_Mutation		82	81		382	370	1		1	0		0	0	76	0		1	1	0	0	0	132	0	82	382
INTS10	55174	broad.mit.edu	37	8	19682423	19682423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	316					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373																																						ENST00000397977.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(946-948)Ctg>Ttg		integrator complex subunit 10							101.0	93.0	96.0					8																	19682423		1886	4104	5990	SO:0001819	synonymous_variant	55174	0	0					g.chr8:19682423C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.946C>T	chr8.hg19:g.19682423C>T		0						p.L316L	NM_018142.2	NP_060612.2	0	0	0	1.973482	Q9NVR2	INT10_HUMAN		8	1344	+			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	1	1	hg19	c.946C>T	CCDS6011.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	0	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-20.000000	1	0.170000	NM_018142			62	61		279	277	0		1	1		0	0	62	0		1	1	0	47	0	77	0	62	279
INTS10	55174	broad.mit.edu	37	8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	450					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378																																						ENST00000397977.3	1.000000	0.650000	1	8.000000e-01	0.960000	0.920542	0.960000	1.000000																										0				20						c.(1348-1350)Atc>Ctc		integrator complex subunit 10							147.0	138.0	141.0					8																	19689592		1930	4124	6054	SO:0001583	missense	55174	0	0					g.chr8:19689592A>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1348A>C	chr8.hg19:g.19689592A>C	ENSP00000381064:p.Ile450Leu	0						p.I450L	NM_018142.2	NP_060612.2	0	0	0	1.973482	Q9NVR2	INT10_HUMAN		11	1746	+			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	1	1	hg19	c.1348A>C	CCDS6011.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.59|12.59|12.59	1.982892|1.982892|1.982892	0.34942|0.34942|0.34942	.|.|.	.|.|.	ENSG00000104613|ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977|ENST00000518799	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	.|0.046970|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.58481|0.58481|0.58481	0.2125|0.2125|0.2125	L|L|L	0.38531|0.38531|0.38531	1.155|1.155|1.155	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.12156|.	.|0.007|.	T|T|T	0.55055|0.55055|0.55055	-0.8200|-0.8200|-0.8200	5|9|5	.|0.40728|.	.|T|.	.|0.16|.	-25.6753|-25.6753|-25.6753	14.9937|14.9937|14.9937	0.71412|0.71412|0.71412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|450|.	.|Q9NVR2|.	.|INT10_HUMAN|.	D|L|T	225|450|32	.|.|.	.|ENSP00000381064:I450L|.	E|I|N	+|+|+	3|1|2	2|0|0	2|0|0	INTS10|INTS10|INTS10	19733872|19733872|19733872	19733872|19733872|19733872	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	7.036000|7.036000|7.036000	0.76524|0.76524|0.76524	2.221000|2.221000|2.221000	0.72209|0.72209|0.72209	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|ATC|AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_018142			26	26		285	280	1		1	1		0	0	58	0		9.999999e-01	9.999881e-01	0	35	0	165	0	26	285
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A	rs557015233	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TATCGACATCGAAAGTAAATT	0.418													G|||	4	0.000798722	0.0	0.0	5008	,	,		19664	0.0		0.0	False		,,,				2504	0.0041					ENST00000311322.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(112-114)Gaa>Aaa		lipoprotein lipase	AST-120(DB05269)|Tyloxapol(DB06439)						119.0	115.0	117.0					8																	19805714		2203	4300	6503	SO:0001583	missense	4023	33	121412	47				g.chr8:19805714G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.112G>A	chr8.hg19:g.19805714G>A	ENSP00000309757:p.Glu38Lys	0					LPL_ENST00000521994.1_3'UTR	p.E38K	NM_000237.2	NP_000228.1	0	0	0	1.973482	P06858	LIPL_HUMAN		2	582	+			B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	1	1	hg19	c.112G>A	CCDS6012.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503993	0.44558	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90732	-2.72;-2.72;-2.72	5.23	5.23	0.72850	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.149727	0.64402	D	0.000018	D	0.84597	0.5507	L	0.35542	1.07	0.34686	D	0.725273	P	0.41848	0.763	B	0.35413	0.202	D	0.86747	0.1958	8	.	.	.	-33.3413	16.6495	0.85185	0.0:0.0:1.0:0.0	.	38	P06858	LIPL_HUMAN	K	38;38;38;24	ENSP00000428237:E38K;ENSP00000428557:E38K;ENSP00000309757:E38K	.	E	+	1	0	0	LPL	19849994	19849994	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	5.307000	0.65762	2.599000	0.87857	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	1	0	1		2	2	2	0		0	0	153		153	153	1	2.060000	-3.161637	1	0.170000				120	116		571	555	1		1	0		0	0	153	0		1	6.439645e-01	0	0	0	12	0	120	571
LPL	4023	broad.mit.edu	37	8	19816893	19816893	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ATTCACTCTGTGAGTAGCACA	0.522																																						ENST00000311322.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.e7+2		lipoprotein lipase	AST-120(DB05269)|Tyloxapol(DB06439)						69.0	63.0	65.0					8																	19816893		2203	4300	6503	SO:0001630	splice_region_variant	4023	0	0					g.chr8:19816893T>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1139+2T>C	chr8.hg19:g.19816893T>C		0							NM_000237.2	NP_000228.1	0	0	0	1.973482	P06858	LIPL_HUMAN		7	1609	+			B2R5T9|Q16282|Q16283|Q96FC4	Splice_Site	SNP	ENST00000311322.8	1	1	hg19		CCDS6012.1	1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672395	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.93	4.76	0.60689	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5139	0.50509	0.0:0.0:0.1504:0.8496	.	.	.	.	.	-1	.	.	.	+	.	.	.	LPL	19861173	19861173	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	1.048000	0.40298	0.523000	0.50628	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000		Intron		41	41		152	149	1		1			0	0	28	0		1	0	0	0	0	0	0	41	152
ATP6V1B2	526	broad.mit.edu	37	8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TCTGCTGCTGGGCTACCACAC	0.448																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2	1.000000	0.720000	1	8.900000e-01	0.990000	0.961601	0.990000	1.000000																										0				9						c.(586-588)gGg>gAg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	Gallium nitrate(DB05260)						103.0	93.0	96.0					8																	20068811		2203	4300	6503	SO:0001583	missense	526	0	0					g.chr8:20068811G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.587G>A	chr8.hg19:g.20068811G>A	ENSP00000276390:p.Gly196Glu	0						p.G196E	NM_001693.3	NP_001684.2	0	0	0	1.973482	P21281	VATB2_HUMAN		6	627	+			B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	1	1	hg19	c.587G>A	CCDS6014.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283492|5.283492	0.95489|0.95489	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.85088|.	-1.94|.	5.65|5.65	5.65|5.65	0.86999|0.86999	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91219|.	0.7233|.	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.94242|.	0.7486|.	10|.	0.87932|.	D|.	0|.	-36.7028|-36.7028	18.6584|18.6584	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	P21281|.	VATB2_HUMAN|.	E|X	196;70|185	ENSP00000276390:G196E|.	ENSP00000276390:G196E|.	G|W	+|+	2|3	0|0	0|0	ATP6V1B2|ATP6V1B2	20113091|20113091	20113091|20113091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.808000|9.808000	0.99193|0.99193	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGG|TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.318794	1	0.170000	NM_001693			25	25		242	236	1		1	1		0	0	48	0		9.999998e-01	1	0	25	0	365	0	25	242
ATP6V1B2	526	broad.mit.edu	37	8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	321					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCTGGTCGACGAGGTTTTCCA	0.463																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(961-963)cGa>cAa		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	Gallium nitrate(DB05260)						136.0	120.0	125.0					8																	20072363		2203	4300	6503	SO:0001583	missense	526	0	0					g.chr8:20072363G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.962G>A	chr8.hg19:g.20072363G>A	ENSP00000276390:p.Arg321Gln	0						p.R321Q	NM_001693.3	NP_001684.2	0	0	0	1.973482	P21281	VATB2_HUMAN		10	1002	+			B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	1	1	hg19	c.962G>A	CCDS6014.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.027307	0.97216	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.77620	-1.11	5.3	5.3	0.74995	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.89658	3.05	0.80722	D	1	D	0.59767	0.986	B	0.43194	0.411	D	0.88191	0.2877	10	0.87932	D	0	-14.2941	17.8874	0.88861	0.0:0.0:1.0:0.0	.	321	P21281	VATB2_HUMAN	Q	321;195	ENSP00000276390:R321Q	ENSP00000276390:R321Q	R	+	2	0	0	ATP6V1B2	20116643	20116643	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.407689	1	0.170000	NM_001693			59	57		230	228	1		1	1		0	0	76	0		1	1	0	31	0	301	0	59	230
LZTS1	11178	broad.mit.edu	37	8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	343					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647																																						ENST00000381569.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				29						c.(1027-1029)Cgg>Tgg		leucine zipper, putative tumor suppressor 1							18.0	20.0	19.0					8																	20110415		2198	4297	6495	SO:0001583	missense	11178	4	121366	33				g.chr8:20110415G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1027C>T	chr8.hg19:g.20110415G>A	ENSP00000370981:p.Arg343Trp	0					LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W	p.R343W			0	0	0	1.973482	Q9Y250	LZTS1_HUMAN		3	1384	-			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	1	1	hg19	c.1027C>T	CCDS6015.1	1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101228	0.56183	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25912	2.09;2.09;1.77	5.45	3.44	0.39384	5.45	3.44	0.39384	.	0.253086	0.40640	N	0.001051	T	0.34716	0.0907	L	0.52573	1.65	0.30304	N	0.789216	D;D	0.69078	0.997;0.991	P;B	0.52856	0.711;0.332	T	0.37220	-0.9715	10	0.87932	D	0	-60.708	13.3416	0.60549	0.0:0.0:0.7027:0.2973	.	343;343	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	343	ENSP00000370981:R343W;ENSP00000265801:R343W;ENSP00000429263:R343W	ENSP00000265801:R343W	R	-	1	2	2	LZTS1	20154695	20154695	0.971000	0.33674	1.000000	0.80357	0.883000	0.51084	0.166000	0.16583	1.282000	0.44496	0.561000	0.74099	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	1	0	1		2	2	2	0		0	0	38		38	36	1	2.060000	-20.000000	1	0.170000	NM_021020			38	37		197	192	1		1	0		0	0	38	0		1	9.240744e-01	0	0	0	25	0	38	197
LZTS1	11178	broad.mit.edu	37	8	20110763	20110763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	227					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637																																						ENST00000381569.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(679-681)Ctg>Ttg		leucine zipper, putative tumor suppressor 1							69.0	61.0	64.0					8																	20110763		2203	4300	6503	SO:0001819	synonymous_variant	11178	0	0					g.chr8:20110763G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.679C>T	chr8.hg19:g.20110763G>A		0					LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L	p.L227L			0	0	0	1.973482	Q9Y250	LZTS1_HUMAN		3	1036	-			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	1	1	hg19	c.679C>T	CCDS6015.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_021020			93	93		361	360	1		1	0		0	0	94	0		1	9.876684e-01	0	0	0	29	0	93	361
GFRA2	2675	broad.mit.edu	37	8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	239					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662																																						ENST00000524240.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999092	0.990000	1.000000																										0				7						c.(715-717)Ccc>Tcc		GDNF family receptor alpha 2							35.0	40.0	38.0					8																	21608179		2173	4269	6442	SO:0001583	missense	2675	1	121242	25				g.chr8:21608179G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.715C>T	chr8.hg19:g.21608179G>A	ENSP00000428518:p.Pro239Ser	0					GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S	p.P239S	NM_001495.4	NP_001486.4	0	0	0	1.973482	O00451	GFRA2_HUMAN		4	1365	-			E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	1	1	hg19	c.715C>T	CCDS47816.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530210	0.85706	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.78	4.78	0.61160	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.75020	0.906;0.726;0.985	D	0.84576	0.0658	10	0.87932	D	0	-23.9515	17.4162	0.87500	0.0:0.0:1.0:0.0	.	106;134;239	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	239;134;239;106;134;239	ENSP00000428518:P239S;ENSP00000383592:P134S;ENSP00000429445:P239S;ENSP00000429206:P106S;ENSP00000429979:P134S;ENSP00000428721:P239S	ENSP00000383592:P134S	P	-	1	0	0	GFRA2	21652459	21652459	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.869000	0.99810	2.199000	0.70637	0.313000	0.20887	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_001495			28	28		183	177	0		1	0		0	0	34	0		1	0	0	0	0	1	0	28	183
XPO7	23039	broad.mit.edu	37	8	21840243	21840243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000252512.9	+	11	1297	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	XPO7_ENST00000433566.4_Silent_p.P400P|XPO7_ENST00000434536.1_Silent_p.P408P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	399				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502																																						ENST00000252512.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1195-1197)ccC>ccT		exportin 7							136.0	136.0	136.0					8																	21840243		2029	4195	6224	SO:0001819	synonymous_variant	23039	0	0					g.chr8:21840243C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1197C>T	chr8.hg19:g.21840243C>T		0					XPO7_ENST00000433566.4_Silent_p.P400P|XPO7_ENST00000434536.1_Silent_p.P408P	p.P399P	NM_015024.4	NP_055839.3	0	0	0	1.973482	Q9UIA9	XPO7_HUMAN		11	1297	+			O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	1	1	hg19	c.1197C>T	CCDS47818.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-2.572687	1	0.170000	NM_015024			77	77		361	355	1		1	1		0	0	94	0		1	1	0	31	0	115	0	77	361
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000252512.9	+	14	1772	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000434536.1_Missense_Mutation_p.R567C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483																																						ENST00000252512.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1672-1674)Cgt>Tgt		exportin 7							115.0	116.0	116.0					8																	21844746		1914	4118	6032	SO:0001583	missense	23039	0	0					g.chr8:21844746C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1672C>T	chr8.hg19:g.21844746C>T	ENSP00000252512:p.Arg558Cys	0					XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000434536.1_Missense_Mutation_p.R567C	p.R558C	NM_015024.4	NP_055839.3	0	0	0	1.973482	Q9UIA9	XPO7_HUMAN		14	1772	+			O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	1	1	hg19	c.1672C>T	CCDS47818.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203070	0.58234	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65178	-0.14;-0.14;-0.14	5.78	5.78	0.91487	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	P;P;P	0.49358	0.877;0.923;0.923	B;P;P	0.53450	0.313;0.726;0.726	T	0.78201	-0.2296	10	0.38643	T	0.18	-8.456	14.4657	0.67482	0.1471:0.8529:0.0:0.0	.	559;567;558	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	567;558;559	ENSP00000404853:R567C;ENSP00000252512:R558C;ENSP00000410249:R559C	ENSP00000252512:R558C	R	+	1	0	0	XPO7	21900692	21900692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.720000	0.54933	2.732000	0.93576	0.655000	0.94253	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	1	0	1		2	2	2	0		0	0	98		98	98	1	2.060000	-3.036800	1	0.170000	NM_015024			86	85		422	411	1		1	1		0	0	98	0		1	1	0	52	0	147	0	86	422
FAM160B2	64760	broad.mit.edu	37	8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652																																						ENST00000289921.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999084	0.990000	1.000000																										0				9						c.(706-708)Ctg>Atg		family with sequence similarity 160, member B2							36.0	43.0	41.0					8																	21955759		2049	4191	6240	SO:0001583	missense	64760	0	0					g.chr8:21955759C>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.706C>A	chr8.hg19:g.21955759C>A	ENSP00000289921:p.Leu236Met	0						p.L236M	NM_022749.5	NP_073586.5	0	0	0	1.973482	Q86V87	F16B2_HUMAN		6	752	+			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	1	1	hg19	c.706C>A	CCDS6021.2	1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380408	0.42207	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.07	4.17	0.49024	5.07	4.17	0.49024	.	0.628857	0.16973	N	0.192038	T	0.30885	0.0779	N	0.22421	0.69	0.22389	N	0.999147	P	0.34892	0.474	P	0.46419	0.516	T	0.25710	-1.0124	10	0.49607	T	0.09	-2.3581	10.7464	0.46183	0.1901:0.8099:0.0:0.0	.	236	Q86V87	F16B2_HUMAN	M	236	ENSP00000289921:L236M	ENSP00000289921:L236M	L	+	1	2	2	FAM160B2	22011705	22011705	0.891000	0.30450	0.272000	0.24630	0.018000	0.09664	1.361000	0.34136	1.089000	0.41292	0.561000	0.74099	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000				14	14		61	61	1		1	1		0	0	13	0		9.998539e-01	9.999980e-01	0	24	0	101	0	14	61
NUDT18	79873	broad.mit.edu	37	8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000309188.6	-	4	362	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	82	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|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-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672																																						ENST00000309188.6	1.000000	0.690000	1	9.900000e-01	0.990000	0.975858	0.990000	1.000000																										0				4						c.(244-246)Gag>Tag		nudix (nucleoside diphosphate linked moiety X)-type motif 18							30.0	38.0	35.0					8																	21965776		2131	4217	6348	SO:0001587	stop_gained	79873	0	0					g.chr8:21965776C>A		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.244G>T	chr8.hg19:g.21965776C>A	ENSP00000307852:p.Glu82*	0					NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*	p.E82*	NM_024815.3	NP_079091.3	0	0	0	1.973482	Q6ZVK8	NUD18_HUMAN		4	362	-			Q8IZ75|Q9H687	Nonsense_Mutation	SNP	ENST00000309188.6	0	1	hg19	c.244G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.090209|6.090209	0.97271|0.97271	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|T	.|0.13307	.|2.6	5.1|5.1	5.1|5.1	0.69264|0.69264	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.32704	.|0.0838	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33317	.|-0.9873	.|5	0.87932|0.87932	D|D	0|0	0.0307|0.0307	16.0045|16.0045	0.80349|0.80349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	5;82|117	.|ENSP00000430117:G117V	ENSP00000307852:E82X|ENSP00000430117:G117V	E|G	-|-	1|2	0|0	0|0	NUDT18|NUDT18	22021721|22021721	22021721|22021721	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.958000|0.958000	0.62258|0.62258	4.586000|4.586000	0.60984|0.60984	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GAG|GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-13.267190	1	0.170000	NM_024815			6	6		33	31	1		1	1		0	0	9	0		9.635627e-01	9.836883e-01	0	2	0	45	0	6	33
HR	55806	broad.mit.edu	37	8	21982906	21982906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	556					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687																																						ENST00000381418.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999100	0.990000	1.000000																										0				27						c.(1666-1668)aaG>aaA		hair growth associated							28.0	30.0	29.0					8																	21982906		2202	4298	6500	SO:0001819	synonymous_variant	55806	0	0					g.chr8:21982906C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1668G>A	chr8.hg19:g.21982906C>T		0					HR_ENST00000312841.8_Silent_p.K556K	p.K556K	NM_005144.4	NP_005135.2	0	0	0	1.973482	O43593	HAIR_HUMAN		5	3148	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	0	1	hg19	c.1668G>A	CCDS6022.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	0		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000				16	16		78	77	0		1	0		0	0	8	0		9.999570e-01	3.585280e-01	0	1	0	6	0	16	78
HR	55806	broad.mit.edu	37	8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	533					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677																																						ENST00000381418.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999896	0.990000	1.000000																										0				27						c.(1597-1599)Gcc>Tcc		hair growth associated							41.0	43.0	42.0					8																	21982977		2203	4300	6503	SO:0001583	missense	55806	0	0					g.chr8:21982977C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1597G>T	chr8.hg19:g.21982977C>A	ENSP00000370826:p.Ala533Ser	0					HR_ENST00000312841.8_Missense_Mutation_p.A533S	p.A533S	NM_005144.4	NP_005135.2	0	0	0	1.973482	O43593	HAIR_HUMAN		5	3077	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	1	1	hg19	c.1597G>T	CCDS6022.1	1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372195	0.24857	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71341	-0.55;-0.56	4.77	1.71	0.24356	4.77	1.71	0.24356	.	1.715950	0.03661	N	0.242548	T	0.56171	0.1967	L	0.31294	0.92	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.14578	0.011;0.005	T	0.32348	-0.9910	10	0.07990	T	0.79	0.1831	6.766	0.23566	0.339:0.4494:0.2116:0.0	.	533;533	O43593-2;O43593	.;HAIR_HUMAN	S	533	ENSP00000370826:A533S;ENSP00000326765:A533S	ENSP00000326765:A533S	A	-	1	0	0	HR	22038922	22038922	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.368000	0.07543	0.087000	0.17167	0.462000	0.41574	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	0		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				26	26		133	132	1		1	1		0	0	29	0		1	2.668729e-01	0	2	0	4	0	26	133
HR	55806	broad.mit.edu	37	8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657																																						ENST00000381418.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(895-897)Gat>Aat		hair growth associated							31.0	32.0	32.0					8																	21985060		2203	4298	6501	SO:0001583	missense	55806	3	121378	37				g.chr8:21985060C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.895G>A	chr8.hg19:g.21985060C>T	ENSP00000370826:p.Asp299Asn	0					HR_ENST00000312841.8_Missense_Mutation_p.D299N|HR_ENST00000518377.1_5'Flank	p.D299N	NM_005144.4	NP_005135.2	0	0	0	1.973482	O43593	HAIR_HUMAN		3	2375	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	1	1	hg19	c.895G>A	CCDS6022.1	1	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453240	0.04540	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70749	-0.51;-0.51	5.8	-0.854	0.10705	5.8	-0.854	0.10705	.	0.683555	0.14524	N	0.314266	T	0.40322	0.1112	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.08179	T	0.78	0.2563	9.1659	0.37052	0.0:0.3252:0.0:0.6748	.	299;299	O43593-2;O43593	.;HAIR_HUMAN	N	299	ENSP00000370826:D299N;ENSP00000326765:D299N	ENSP00000326765:D299N	D	-	1	0	0	HR	22041005	22041005	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	-0.153000	0.10144	-0.295000	0.08960	-0.672000	0.03802	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000				67	66		283	280	1		1	1		0	0	42	0		1	3.266653e-01	0	3	0	3	0	67	283
HR	55806	broad.mit.edu	37	8	21986450	21986450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	78					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652																																						ENST00000381418.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(232-234)ggC>ggT		hair growth associated							44.0	46.0	45.0					8																	21986450		2203	4300	6503	SO:0001819	synonymous_variant	55806	5	121408	35				g.chr8:21986450G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.234C>T	chr8.hg19:g.21986450G>A		0					HR_ENST00000312841.8_Silent_p.G78G|HR_ENST00000518377.1_5'Flank	p.G78G	NM_005144.4	NP_005135.2	0	0	0	1.973482	O43593	HAIR_HUMAN		2	1714	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	1	1	hg19	c.234C>T	CCDS6022.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	0		2	2	2	0		0	0	58		58	57	1	2.060000	-3.601163	1	0.170000				65	61		264	263	1		1	1		0	0	58	0		1	5.592831e-01	0	2	0	7	0	65	264
HR	55806	broad.mit.edu	37	8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T	rs372594532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	53					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677																																						ENST00000381418.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(157-159)Gtc>Atc		hair growth associated		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	40.0	43.0	42.0		157,157	-1.8	0.4	8		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HR	NM_018411.4,NM_005144.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	53/1135,53/1190	21986527	1,13005	2203	4300	6503	SO:0001583	missense	55806	1	121400	30				g.chr8:21986527C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.157G>A	chr8.hg19:g.21986527C>T	ENSP00000370826:p.Val53Ile	0					HR_ENST00000312841.8_Missense_Mutation_p.V53I|HR_ENST00000518377.1_5'Flank	p.V53I	NM_005144.4	NP_005135.2	0	0	0	1.973482	O43593	HAIR_HUMAN		2	1637	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	1	1	hg19	c.157G>A	CCDS6022.1	1	.	.	.	.	.	.	.	.	.	.	C	2.361	-0.346539	0.05208	0.0	1.16E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.8	-1.78	0.07957	4.8	-1.78	0.07957	.	1.199030	0.06230	N	0.688518	T	0.52869	0.1761	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.25606	-1.0127	10	0.26408	T	0.33	-1.6763	5.5637	0.17158	0.1308:0.4348:0.0:0.4344	.	53;53;53	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	I	53	ENSP00000370826:V53I;ENSP00000326765:V53I	ENSP00000326765:V53I	V	-	1	0	0	HR	22042472	22042472	0.001000	0.12720	0.378000	0.26068	0.138000	0.21146	-0.610000	0.05629	-0.500000	0.06614	-2.069000	0.00389	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	0		2	2	2	0		0	0	48		48	46	1	2.060000	-20.000000	1	0.170000				64	63		286	281	1		1	1		0	0	48	0		1	5.731063e-01	0	2	0	8	0	64	286
REEP4	80346	broad.mit.edu	37	8	21997708	21997708	+	Silent	SNP	G	G	A	rs146312249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21997708G>A	ENST00000306306.3	-	3	627	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_ENST00000334530.5_Silent_p.I53I|REEP4_ENST00000523293.1_Silent_p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	53					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGTCTGTAACGATCTCTGCTG	0.597																																						ENST00000306306.3	0.550000	0.160000	4.400000e-01	2.300000e-01	0.330000	0.346215	0.330000	0.320000																										0				7						c.(157-159)atC>atT		receptor accessory protein 4		C		1,4405	2.1+/-5.4	0,1,2202	78.0	68.0	71.0		159	2.3	1.0	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	REEP4	NM_025232.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		53/258	21997708	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80346	5	121412	37				g.chr8:21997708G>A	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.159C>T	chr8.hg19:g.21997708G>A		0					REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	p.I53I	NM_025232.2	NP_079508.2	0	0	0	1.973482	Q9H6H4	REEP4_HUMAN		3	627	-			D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Silent	SNP	ENST00000306306.3	0	1	hg19	c.159C>T	CCDS6024.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.645360	1	0.170000	NM_025232			10	10		352	347	0		1	1		0	0	57	0		9.967588e-01	9.339081e-01	0	3	0	165	0	10	352
BMP1	649	broad.mit.edu	37	8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000397814.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	331	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602																																						ENST00000306385.5	1.000000	0.880000	1	9.700000e-01	0.990000	0.988713	0.990000	1.000000																										0				30						c.(991-993)Ggc>Agc		bone morphogenetic protein 1							233.0	206.0	215.0					8																	22037910		2203	4300	6503	SO:0001583	missense	649	0	0					g.chr8:22037910G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.991G>A	chr8.hg19:g.22037910G>A	ENSP00000305714:p.Gly331Ser	0					BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S	p.G331S	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		8	1661	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	1	1	hg19	c.991G>A	CCDS6026.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.623558	0.96660	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	5.66	5.66	0.87406	CUB (5);	0.000000	0.39146	U	0.001449	T	0.80675	0.4668	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.97110	0.912;1.0;0.99;0.985	D	0.85208	0.1019	10	0.72032	D	0.01	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	331;404;331;331	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	331	ENSP00000305714:G331S;ENSP00000380917:G331S;ENSP00000306121:G331S;ENSP00000380915:G331S	ENSP00000306121:G331S	G	+	1	0	0	BMP1	22093855	22093855	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1		2	2	2	0		0	0	237		237	234	1	2.060000	-19.999960	1	0.170000	NM_006132			96	94		934	922	0		1	1		0	0	237	0		1	9.999739e-01	0	7	0	136	0	96	934
BMP1	649	broad.mit.edu	37	8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000397814.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	577	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662																																						ENST00000306385.5	0.960000	0.480000	8.400000e-01	5.800000e-01	0.700000	0.715966	0.700000	0.690000																										0				30						c.(1729-1731)Ggg>Agg		bone morphogenetic protein 1							43.0	44.0	43.0					8																	22053064		2203	4297	6500	SO:0001583	missense	649	0	0					g.chr8:22053064G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1729G>A	chr8.hg19:g.22053064G>A	ENSP00000305714:p.Gly577Arg	0					BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R	p.G577R	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		13	2399	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	1	1	hg19	c.1729G>A	CCDS6026.1	0	.	.	.	.	.	.	.	.	.	.	G	31	5.080077	0.94050	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98264	-3.07;-4.83;-4.83;-4.83	5.19	5.19	0.71726	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39341	U	0.001400	D	0.99187	0.9718	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.77557	0.984;0.985;0.99;0.887	D	0.99312	1.0904	10	0.87932	D	0	.	17.476	0.87659	0.0:0.0:1.0:0.0	.	577;650;577;577	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	R	577	ENSP00000305714:G577R;ENSP00000380917:G577R;ENSP00000306121:G577R;ENSP00000380915:G577R	ENSP00000306121:G577R	G	+	1	0	0	BMP1	22109009	22109009	1.000000	0.71417	0.354000	0.25760	0.940000	0.58332	9.843000	0.99491	2.419000	0.82065	0.563000	0.77884	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-2.540688	1	0.170000	NM_006132			29	29		450	436	0		1	1		0	0	66	0		1	9.942884e-01	0	4	0	122	0	29	450
BMP1	649	broad.mit.edu	37	8	22059428	22059428	+	Silent	SNP	C	C	T	rs377456913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	740	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592																																						ENST00000306385.5	1.000000	0.930000	1	9.900000e-01	0.990000	0.995703	0.990000	1.000000																										0				30						c.(2218-2220)caC>caT		bone morphogenetic protein 1		C		0,4406		0,0,2203	89.0	63.0	72.0		2220	-6.2	0.2	8		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP1	NM_006129.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		740/987	22059428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649	6	121396	35				g.chr8:22059428C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2220C>T	chr8.hg19:g.22059428C>T		0					BMP1_ENST00000354870.5_3'UTR	p.H740H	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		16	2890	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	1	1	hg19	c.2220C>T	CCDS6026.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_006132			16	16		101	99	1		1	1		0	0	34	0		9.999483e-01	9.997071e-01	0	14	0	78	0	16	101
BMP1	649	broad.mit.edu	37	8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622																																						ENST00000306385.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2266-2268)gGt>gAt		bone morphogenetic protein 1							102.0	77.0	85.0					8																	22064400		2203	4300	6503	SO:0001583	missense	649	0	0					g.chr8:22064400G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2267G>A	chr8.hg19:g.22064400G>A	ENSP00000305714:p.Gly756Asp	0					BMP1_ENST00000354870.5_3'UTR	p.G756D	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		17	2937	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	1	1	hg19	c.2267G>A	CCDS6026.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652649	0.88056	.	.	ENSG00000168487	ENST00000306385	T	0.50548	0.74	4.0	4.0	0.46444	4.0	4.0	0.46444	CUB (5);	0.000000	0.39341	U	0.001397	T	0.78464	0.4287	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86443	0.1768	10	0.72032	D	0.01	.	15.0597	0.71942	0.0:0.0:1.0:0.0	.	756	P13497	BMP1_HUMAN	D	756	ENSP00000305714:G756D	ENSP00000305714:G756D	G	+	2	0	0	BMP1	22120345	22120345	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.640000	0.98453	2.052000	0.61016	0.462000	0.41574	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_006132			54	53		236	231	1		1	1		0	0	43	0		1	9.999875e-01	0	11	0	65	0	54	236
BMP1	649	broad.mit.edu	37	8	22067082	22067082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	900	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592																																						ENST00000306385.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2698-2700)taC>taT		bone morphogenetic protein 1							300.0	223.0	249.0					8																	22067082		2203	4300	6503	SO:0001819	synonymous_variant	649	0	0					g.chr8:22067082C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2700C>T	chr8.hg19:g.22067082C>T		0					BMP1_ENST00000354870.5_3'UTR	p.Y900Y	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		19	3370	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	1	1	hg19	c.2700C>T	CCDS6026.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1		2	2	2	0		0	0	153		153	149	1	2.060000	-20.000000	1	0.170000	NM_006132			171	170		819	806	1		1	1		0	0	153	0		1	9.999996e-01	0	15	0	83	0	171	819
BMP1	649	broad.mit.edu	37	8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602																																						ENST00000306385.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(2959-2961)tgA>tgG		bone morphogenetic protein 1							97.0	80.0	86.0					8																	22069241		2203	4300	6503	SO:0001578	stop_lost	649	0	0					g.chr8:22069241A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2961A>G	chr8.hg19:g.22069241A>G	ENSP00000305714:p.*987Trpext*45	0					BMP1_ENST00000354870.5_3'UTR	p.*987W	NM_006129.4	NP_006120.1	0	0	0	1.973482	P13497	BMP1_HUMAN		20	3631	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonstop_Mutation	SNP	ENST00000306385.5	0	1	hg19	c.2961A>G	CCDS6026.1	1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471565	0.63737	.	.	ENSG00000168487	ENST00000306385	.	.	.	4.58	4.58	0.56647	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0626	0.59015	1.0:0.0:0.0:0.0	.	.	.	.	W	987	.	.	X	+	3	0	0	BMP1	22125186	22125186	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	8.924000	0.92827	1.924000	0.55735	0.533000	0.62120	TGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_006132			70	70		343	333	1		1	1		0	0	83	0		1	9.999989e-01	0	13	0	85	0	70	343
PHYHIP	9796	broad.mit.edu	37	8	22079169	22079169	+	Silent	SNP	C	C	T	rs375706223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000321613.3	-	6	1146	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000454243.2_Silent_p.T230T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627																																						ENST00000321613.3	1.000000	0.820000	1	9.900000e-01	0.990000	0.987872	0.990000	1.000000																										0				10						c.(688-690)acG>acA		phytanoyl-CoA 2-hydroxylase interacting protein		C	,	2,4114		0,2,2056	19.0	25.0	23.0		690,690	-4.2	1.0	8		23	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	0,2,6244	TT,TC,CC		0.0,0.0486,0.016	,	230/331,230/331	22079169	2,12490	2058	4188	6246	SO:0001819	synonymous_variant	9796	4	120984	31				g.chr8:22079169C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.690G>A	chr8.hg19:g.22079169C>T		0					PHYHIP_ENST00000454243.2_Silent_p.T230T	p.T230T	NM_001099335.1	NP_001092805.1	0	0	0	1.973482	Q92561	PHYIP_HUMAN		6	1146	-			D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	0	1	hg19	c.690G>A	CCDS43723.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-9.249905	1	0.170000	NM_014759			17	15		129	126	1		1	1		0	0	17	0		9.999666e-01	9.963464e-01	0	3	0	70	0	17	129
PIWIL2	55124	broad.mit.edu	37	8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000454009.2	+	5	1015	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	169					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)			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)		GAAGTGGACAAGCCTCCCTGT	0.587																																						ENST00000454009.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				46						c.(505-507)aAg>aCg		piwi-like RNA-mediated gene silencing 2							92.0	80.0	84.0					8																	22140627		2203	4300	6503	SO:0001583	missense	55124	0	0					g.chr8:22140627A>C	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.506A>C	chr8.hg19:g.22140627A>C	ENSP00000406956:p.Lys169Thr	0					PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T	p.K169T	NM_001135721.1	NP_001129193.1	0	0	0	1.973482	Q8TC59	PIWL2_HUMAN		5	1015	+			A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	1	1	hg19	c.506A>C	CCDS6029.1	1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829594	0.32329	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04970	3.53;3.52;3.53	5.52	3.12	0.35913	5.52	3.12	0.35913	.	0.889113	0.09620	N	0.777691	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.48340	-0.9044	10	0.16420	T	0.52	-20.0075	6.8642	0.24084	0.8062:0.0:0.1938:0.0	.	169;169	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	169	ENSP00000349208:K169T;ENSP00000428267:K169T;ENSP00000406956:K169T	ENSP00000349208:K169T	K	+	2	0	0	PIWIL2	22196572	22196572	0.376000	0.25098	0.218000	0.23776	0.121000	0.20230	1.893000	0.39758	0.472000	0.27344	-0.263000	0.10527	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000				46	45		246	239	1		1			0	0	67	0		1	0	0	0	0	0	0	46	246
PIWIL2	55124	broad.mit.edu	37	8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000454009.2	+	11	1696	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	396	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)			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)		CAAAGGCATGCCATTTATCAG	0.373																																						ENST00000454009.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1186-1188)gCc>gAc		piwi-like RNA-mediated gene silencing 2							115.0	105.0	109.0					8																	22161539		2203	4300	6503	SO:0001583	missense	55124	0	0					g.chr8:22161539C>A	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.1187C>A	chr8.hg19:g.22161539C>A	ENSP00000406956:p.Ala396Asp	0					PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D	p.A396D	NM_001135721.1	NP_001129193.1	0	0	0	1.973482	Q8TC59	PIWL2_HUMAN		11	1696	+			A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	1	1	hg19	c.1187C>A	CCDS6029.1	1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.276038	0.10403	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	4.91	0.64330	5.78	4.91	0.64330	Argonaute/Dicer protein, PAZ (3);	0.451135	0.26082	N	0.026456	T	0.05686	0.0149	N	0.04260	-0.245	0.36010	D	0.837998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.24977	-1.0145	10	0.08381	T	0.77	-47.1199	10.3046	0.43672	0.0:0.8473:0.0:0.1527	.	396;396	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	396	ENSP00000349208:A396D;ENSP00000428267:A396D;ENSP00000406956:A396D	ENSP00000349208:A396D	A	+	2	0	0	PIWIL2	22217484	22217484	0.600000	0.26899	0.998000	0.56505	0.726000	0.41606	1.119000	0.31258	1.595000	0.50050	-0.229000	0.12294	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				63	60		303	295	1		1			0	0	71	0		1	0	0	0	0	0	0	63	303
PIWIL2	55124	broad.mit.edu	37	8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000454009.2	+	16	2324	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L|PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	605					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)			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)		CCATGCATTTCTGGGCACTTT	0.418																																						ENST00000454009.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1813-1815)ttC>ttA		piwi-like RNA-mediated gene silencing 2							97.0	101.0	100.0					8																	22168639		2203	4300	6503	SO:0001583	missense	55124	0	0					g.chr8:22168639C>A	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.1815C>A	chr8.hg19:g.22168639C>A	ENSP00000406956:p.Phe605Leu	0					PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L	p.F605L	NM_001135721.1	NP_001129193.1	0	0	0	1.973482	Q8TC59	PIWL2_HUMAN		16	2324	+			A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	1	1	hg19	c.1815C>A	CCDS6029.1	1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099794	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	5.8	4.01	0.46588	5.8	4.01	0.46588	Ribonuclease H-like (1);	0.270137	0.43416	D	0.000575	T	0.08626	0.0214	M	0.63428	1.95	0.38202	D	0.940228	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.09590	T	0.72	-1.5471	8.6361	0.33948	0.0:0.7649:0.0:0.2351	.	605;605	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	605	ENSP00000349208:F605L;ENSP00000428267:F605L;ENSP00000406956:F605L	ENSP00000349208:F605L	F	+	3	2	2	PIWIL2	22224584	22224584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.638000	0.37165	0.798000	0.33994	0.561000	0.74099	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	0		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000				120	115		501	487	1		1			0	0	119	0		1	0	0	0	0	0	0	120	501
PPP3CC	5533	broad.mit.edu	37	8	22355569	22355569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22355569T>G	ENST00000240139.5	+	4	755	c.428T>G	c.(427-429)cTt>cGt	p.L143R	PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	143					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)			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)		TTGTTTCTGCTTCGGGGAAAT	0.333																																						ENST00000240139.5	0.480000	0.110000	3.700000e-01	1.700000e-01	0.260000	0.277314	0.260000	0.240000																										0				17						c.(427-429)cTt>cGt		protein phosphatase 3, catalytic subunit, gamma isozyme							140.0	130.0	133.0					8																	22355569		2203	4300	6503	SO:0001583	missense	5533	0	0					g.chr8:22355569T>G		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.428T>G	chr8.hg19:g.22355569T>G	ENSP00000240139:p.Leu143Arg	0					PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R	p.L143R	NM_005605.4	NP_005596.2	0	0	0	1.973482	P48454	PP2BC_HUMAN		4	755	+		Prostate(55;0.104)	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	0	1	hg19	c.428T>G	CCDS34859.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.666485|4.666485	0.88251|0.88251	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82	5.93|5.93	5.93|5.93	0.95920|0.95920	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	.|0.058467	.|0.64402	.|D	.|0.000002	T|T	0.58680|0.58680	0.2139|0.2139	H|H	0.99956|0.99956	5.05|5.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.994;0.997;0.994	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.87932	.|D	.|0	-11.9987|-11.9987	15.3614|15.3614	0.74478|0.74478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|143;143;143;143	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	V|R	20|143	.|ENSP00000429379:L143R;ENSP00000240139:L143R;ENSP00000289963:L143R;ENSP00000380878:L143R	.|ENSP00000240139:L143R	F|L	+|+	1|2	0|0	0|0	PPP3CC|PPP3CC	22411514|22411514	22411514|22411514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.687000|7.687000	0.84139|0.84139	2.267000|2.267000	0.75376|0.75376	0.533000|0.533000	0.62120|0.62120	TTC|CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	0	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-7.516677	1	0.170000	NM_005605			7	7		321	316	0		1	0		0	0	78	0		9.798112e-01	6.406027e-01	0	1	0	95	0	7	321
PDLIM2	64236	broad.mit.edu	37	8	22439020	22439020	+	Silent	SNP	G	G	A	rs376478765		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000397760.4	+	3	622	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000265810.4_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667																																						ENST00000397760.4	1.000000	0.810000	1	9.900000e-01	0.990000	0.987617	0.990000	1.000000																										0				9						c.(220-222)tcG>tcA		PDZ and LIM domain 2 (mystique)							55.0	50.0	52.0					8																	22439020		2202	4300	6502	SO:0001819	synonymous_variant	64236	4	121220	35				g.chr8:22439020G>A	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.222G>A	chr8.hg19:g.22439020G>A		0					PDLIM2_ENST00000265810.4_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S	p.S74S			0	0	0	1.973482	Q96JY6	PDLI2_HUMAN		3	622	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Silent	SNP	ENST00000397760.4	1	1	hg19	c.222G>A		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-19.999800	1	0.170000				15	15		110	108	1		1	1		0	0	27	0		9.998941e-01	9.922947e-01	0	6	0	57	0	15	110
C8orf58	541565	broad.mit.edu	37	8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000289989.5	+	2	381	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657																																						ENST00000289989.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999314	0.990000	1.000000																										0				4						c.(307-309)Gcc>Acc		chromosome 8 open reading frame 58							12.0	16.0	15.0					8																	22458661		2178	4294	6472	SO:0001583	missense	541565	1	120728	26				g.chr8:22458661G>A	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.307G>A	chr8.hg19:g.22458661G>A	ENSP00000289989:p.Ala103Thr	0					C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T|C8orf58_ENST00000453427.2_3'UTR	p.A103T			0	0	0	1.973482	Q8NAV2	CH058_HUMAN		2	381	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	B4DI44	Missense_Mutation	SNP	ENST00000289989.5	1	1	hg19	c.307G>A	CCDS34862.1	1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753780	0.31046	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.91	1.93	0.25924	3.91	1.93	0.25924	.	0.507370	0.16623	N	0.206407	T	0.33381	0.0861	M	0.63428	1.95	0.09310	N	1	P;D;P	0.62365	0.951;0.991;0.951	B;P;B	0.44518	0.32;0.452;0.32	T	0.26360	-1.0105	9	0.72032	D	0.01	-4.5702	5.0944	0.14725	0.1185:0.2122:0.6693:0.0	.	103;31;103	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	T	172;103;103;31	.	ENSP00000399696:A172T	A	+	1	0	0	AC037459.4;C8orf58	22514606	22514606	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.336000	0.19823	0.993000	0.38866	-0.406000	0.06334	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	1	0	1		2	2	2	0		0	0	24		24	23	1	2.060000	-20.000000	1	0.170000	NM_001013842			22	22		126	124	1		1	1		0	0	24	0		9.999992e-01	9.834229e-01	0	18	0	23	0	22	126
EGR3	1960	broad.mit.edu	37	8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	112					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGGGCACCCCCAAGATGCC	0.637																																						ENST00000317216.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(334-336)gGg>gAg		early growth response 3							37.0	40.0	39.0					8																	22548815		2201	4299	6500	SO:0001583	missense	1960	0	0					g.chr8:22548815C>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.335G>A	chr8.hg19:g.22548815C>T	ENSP00000318057:p.Gly112Glu	0					EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA	p.G112E	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	0	0	0	1.973482	Q06889	EGR3_HUMAN		2	692	-		Prostate(55;0.0421)|Breast(100;0.102)	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	1	1	hg19	c.335G>A	CCDS6033.1	1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697254	0.68386	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.27720	1.65;1.65	5.39	4.46	0.54185	5.39	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57780	-0.7752	10	0.87932	D	0	-14.7611	12.5883	0.56430	0.1667:0.8333:0.0:0.0	.	74;112	E7EW38;Q06889	.;EGR3_HUMAN	E	112;74	ENSP00000318057:G112E;ENSP00000430310:G74E	ENSP00000318057:G112E	G	-	2	0	0	EGR3	22604760	22604760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.840000	0.62817	2.517000	0.84864	0.462000	0.41574	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.174024	1	0.170000	NM_004430			73	73		327	323	1		1	1		0	0	70	0		1	7.861418e-01	0	3	0	12	0	73	327
RHOBTB2	23221	broad.mit.edu	37	8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000251822.6	+	5	1426	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	297	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)			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)		TGACCTGTTCCTCATGGACCT	0.627																																						ENST00000251822.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(889-891)Ctc>Atc		Rho-related BTB domain containing 2							82.0	83.0	83.0					8																	22864647		2203	4300	6503	SO:0001583	missense	23221	0	0					g.chr8:22864647C>A	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.889C>A	chr8.hg19:g.22864647C>A	ENSP00000251822:p.Leu297Ile	0					RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	p.L297I	NM_015178.2	NP_055993.2	0	0	0	1.973482	Q9BYZ6	RHBT2_HUMAN		5	1426	+		Prostate(55;0.0513)|Breast(100;0.214)	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	1	1	hg19	c.889C>A	CCDS6034.1	1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209694	0.39003	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09817	2.94;2.95;2.95	5.34	4.46	0.54185	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.167226	0.52532	D	0.000062	T	0.12347	0.0300	L	0.48642	1.525	0.39048	D	0.960263	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.23716	0.048;0.033;0.048	T	0.04294	-1.0962	10	0.49607	T	0.09	.	12.4783	0.55827	0.0:0.9185:0.0:0.0815	.	304;297;319	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	319;304;297	ENSP00000427926:L319I;ENSP00000429141:L304I;ENSP00000251822:L297I	ENSP00000251822:L297I	L	+	1	0	0	RHOBTB2	22920592	22920592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	1.224000	0.43551	0.655000	0.94253	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2	1	0	0		2	2	2	0		0	0	103		103	101	1	2.060000	-2.886910	1	0.170000				130	130		561	552	1		1	1		0	0	103	0		1	9.975982e-01	0	12	0	29	0	130	561
RHOBTB2	23221	broad.mit.edu	37	8	22864733	22864733	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000251822.6	+	5	1512	c.975A>G	c.(973-975)caA>caG	p.Q325Q	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	325	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)			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)		ACTCTGATCAAcaccaccacc	0.652																																						ENST00000251822.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(973-975)caA>caG		Rho-related BTB domain containing 2							37.0	41.0	40.0					8																	22864733		2203	4300	6503	SO:0001819	synonymous_variant	23221	0	0					g.chr8:22864733A>G	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.975A>G	chr8.hg19:g.22864733A>G		0					RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	p.Q325Q	NM_015178.2	NP_055993.2	0	0	0	1.973482	Q9BYZ6	RHBT2_HUMAN		5	1512	+		Prostate(55;0.0513)|Breast(100;0.214)	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	1	1	hg19	c.975A>G	CCDS6034.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2	1	0	0		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000				84	84		289	281	1		1	1		0	0	68	0		1	9.999988e-01	0	16	0	55	0	84	289
TNFRSF10B	8795	broad.mit.edu	37	8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000519910.1_5'Flank	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	277					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)			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)		CTGCAAGATACTCACGATCTC	0.547																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(829-831)aGt>aAt		tumor necrosis factor receptor superfamily, member 10b							97.0	89.0	92.0					8																	22884752		2203	4300	6503	SO:0001583	missense	8795	0	0					g.chr8:22884752C>T	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.830G>A	chr8.hg19:g.22884752C>T	ENSP00000276431:p.Ser277Asn	0					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000519910.1_5'Flank	p.S277N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	0	0	0	1.973482	O14763	TR10B_HUMAN		7	1114	-		Prostate(55;0.0421)|Breast(100;0.067)	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	1	1	hg19	c.830G>A	CCDS6035.1	1	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495734	0.12762	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.86769	-1.91;-2.17;2.71	2.5	-3.9	0.04181	2.5	-3.9	0.04181	.	7739.210000	0.00166	U	0.000000	T	0.77658	0.4163	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.33549	0.386;0.417;0.126;0.2;0.236	B;B;B;B;B	0.30782	0.075;0.052;0.038;0.12;0.031	T	0.62774	-0.6783	10	0.35671	T	0.21	.	0.879	0.01230	0.1718:0.2412:0.3395:0.2476	.	97;277;277;248;42	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	277;248;97	ENSP00000276431:S277N;ENSP00000317859:S248N;ENSP00000443386:S97N	ENSP00000276431:S277N	S	-	2	0	0	TNFRSF10B	22940697	22940697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.548000	0.02184	-1.047000	0.03242	-0.282000	0.10007	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_147187			54	52		209	203	1		1	1		0	0	58	0		1	1	0	46	0	131	0	54	209
TNFRSF10B	8795	broad.mit.edu	37	8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	157					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)			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)		TCACCCTGTGCGGCACTTCCG	0.592																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.997813	0.990000	1.000000																										0				15						c.(469-471)cGc>cAc		tumor necrosis factor receptor superfamily, member 10b							41.0	35.0	37.0					8																	22887129		2203	4300	6503	SO:0001583	missense	8795	4	121396	30				g.chr8:22887129C>T	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.470G>A	chr8.hg19:g.22887129C>T	ENSP00000276431:p.Arg157His	0					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000519910.1_5'UTR	p.R157H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	0	0	0	1.973482	O14763	TR10B_HUMAN		4	754	-		Prostate(55;0.0421)|Breast(100;0.067)	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	0	1	hg19	c.470G>A	CCDS6035.1	1	.	.	.	.	.	.	.	.	.	.	c	9.154	1.017022	0.19355	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.31510	1.49;1.49;1.49	3.65	-4.47	0.03525	3.65	-4.47	0.03525	TNFR/CD27/30/40/95 cysteine-rich region (3);	3.140280	0.02103	U	0.054152	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.006;0.044;0.19;0.185	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.16571	-1.0398	10	0.48119	T	0.1	.	5.1719	0.15114	0.1396:0.2021:0.5525:0.1057	.	6;157;157;157	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	H	157;157;6	ENSP00000276431:R157H;ENSP00000317859:R157H;ENSP00000443386:R6H	ENSP00000276431:R157H	R	-	2	0	0	TNFRSF10B	22943074	22943074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.993000	0.00656	-0.682000	0.05197	-0.176000	0.13171	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-19.999060	1	0.170000	NM_147187			13	13		64	63	0		1	1		0	0	24	0		9.996656e-01	9.999999e-01	0	75	0	134	0	13	64
CHMP7	91782	broad.mit.edu	37	8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	152					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537																																						ENST00000397677.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				11						c.(454-456)Gct>Act		charged multivesicular body protein 7							59.0	52.0	55.0					8																	23106877		2203	4300	6503	SO:0001583	missense	91782	0	0					g.chr8:23106877G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.454G>A	chr8.hg19:g.23106877G>A	ENSP00000380794:p.Ala152Thr	0					CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	p.A152T	NM_152272.3	NP_689485.1	0	0	0	1.973482	Q8WUX9	CHMP7_HUMAN		3	1102	+		Prostate(55;0.0513)	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	1	1	hg19	c.454G>A	CCDS6040.1	1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122858	0.20959	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57907	0.37;0.37	5.54	3.76	0.43208	5.54	3.76	0.43208	.	0.246954	0.41500	D	0.000870	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P	0.42973	0.796	B	0.27076	0.076	T	0.10382	-1.0632	10	0.36615	T	0.2	-7.9022	4.5343	0.12020	0.2407:0.0:0.6043:0.1551	.	152	Q8WUX9	CHMP7_HUMAN	T	152	ENSP00000380794:A152T;ENSP00000324491:A152T	ENSP00000324491:A152T	A	+	1	0	0	CHMP7	23162822	23162822	1.000000	0.71417	0.167000	0.22817	0.905000	0.53344	4.750000	0.62162	0.718000	0.32166	-0.218000	0.12543	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-16.796800	1	0.170000	NM_152272			29	29		150	149	1		1	1		0	0	31	0		1	1	0	49	0	143	0	29	150
CHMP7	91782	broad.mit.edu	37	8	23117748	23117748	+	Silent	SNP	T	T	C	rs139217760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117748T>C	ENST00000397677.1	+	10	1860	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CHMP7_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	404					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCCCCGCAATAGGCATTTTA	0.468																																						ENST00000397677.1	0.320000	0.080000	2.500000e-01	1.200000e-01	0.180000	0.193634	0.180000	0.170000																										0				11						c.(1210-1212)aaT>aaC		charged multivesicular body protein 7		T		1,4405	2.1+/-5.4	0,1,2202	119.0	108.0	112.0		1212	4.6	0.1	8	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous	CHMP7	NM_152272.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		404/454	23117748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91782	7	121412	41				g.chr8:23117748T>C	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1212T>C	chr8.hg19:g.23117748T>C		0					CHMP7_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	p.N404N	NM_152272.3	NP_689485.1	0	0	0	1.973482	Q8WUX9	CHMP7_HUMAN		10	1860	+		Prostate(55;0.0513)	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	0	1	hg19	c.1212T>C	CCDS6040.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	0	0	0		2	2	2	0		0	0	93		93	92	1	2.060000	-7.049237	1	0.170000	NM_152272			8	8		525	520	0		1	1		0	0	93	0		9.890491e-01	8.512099e-01	0	5	0	223	0	8	525
CHMP7	91782	broad.mit.edu	37	8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	413					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.P412fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488																																						ENST00000397677.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Deletion - Frameshift(1)	p.P412fs*4(1)	breast(1)	11						c.(1237-1239)aAc>aGc		charged multivesicular body protein 7							132.0	121.0	125.0					8																	23117774		2203	4300	6503	SO:0001583	missense	91782	0	0					g.chr8:23117774A>G	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1238A>G	chr8.hg19:g.23117774A>G	ENSP00000380794:p.Asn413Ser	0					CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	p.N413S	NM_152272.3	NP_689485.1	0	0	0	1.973482	Q8WUX9	CHMP7_HUMAN		10	1886	+		Prostate(55;0.0513)	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	1	1	hg19	c.1238A>G	CCDS6040.1	1	.	.	.	.	.	.	.	.	.	.	A	4.748	0.139071	0.09083	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.44	-4.02	0.04034	5.44	-4.02	0.04034	.	1.434510	0.03399	N	0.203130	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.10064	-1.0646	10	0.10636	T	0.68	0.9774	3.5144	0.07719	0.3287:0.0:0.2761:0.3953	.	413	Q8WUX9	CHMP7_HUMAN	S	413	ENSP00000380794:N413S;ENSP00000324491:N413S	ENSP00000324491:N413S	N	+	2	0	0	CHMP7	23173719	23173719	0.019000	0.18553	0.839000	0.33178	0.990000	0.78478	0.070000	0.14573	-0.576000	0.05974	0.529000	0.55759	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_152272			122	121		511	508	1		1	1		0	0	118	0		1	1	0	61	0	142	0	122	511
LOXL2	4017	broad.mit.edu	37	8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	367	SRCR 3. {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)			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)		CCAAAGCCCAGCTCTCTGCAG	0.627																																						ENST00000389131.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1099-1101)Ctg>Atg		lysyl oxidase-like 2							104.0	86.0	92.0					8																	23185946		2203	4300	6503	SO:0001583	missense	4017	0	0					g.chr8:23185946G>T	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.1099C>A	chr8.hg19:g.23185946G>T	ENSP00000373783:p.Leu367Met	0						p.L367M	NM_002318.2	NP_002309.1	0	0	0	1.973482	Q9Y4K0	LOXL2_HUMAN		6	1468	-		Prostate(55;0.0453)|Breast(100;0.143)	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	1	1	hg19	c.1099C>A	CCDS34864.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538091|4.538091	0.85917|0.85917	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|.	0.56941|.	0.43|.	5.38|5.38	4.5|4.5	0.54988|0.54988	5.38|5.38	4.5|4.5	0.54988|0.54988	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.64687|.	0.928|.	T|T	0.79045|0.79045	-0.1964|-0.1964	10|5	0.62326|.	D|.	0.03|.	.|.	12.2427|12.2427	0.54553|0.54553	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	367|.	Q9Y4K0|.	LOXL2_HUMAN|.	M|R	367|83	ENSP00000373783:L367M|.	ENSP00000373783:L367M|.	L|S	-|-	1|3	2|2	2|2	LOXL2|LOXL2	23241891|23241891	23241891|23241891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.059000|4.059000	0.57470|0.57470	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CTG|AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1		2	2	2	0		0	0	110		110	106	1	2.060000	-20.000000	1	0.170000				127	124		415	408	1		1	1		0	0	110	0		1	1	0	8	0	450	0	127	415
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T	rs369286803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	198	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)			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)		CACTGGGGTGCGCTTGCGGTA	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20913	0.001		0.0	False		,,,				2504	0.0					ENST00000389131.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(592-594)cGc>cAc		lysyl oxidase-like 2							160.0	126.0	138.0					8																	23198655		2203	4300	6503	SO:0001583	missense	4017	3	121412	38				g.chr8:23198655C>T	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.593G>A	chr8.hg19:g.23198655C>T	ENSP00000373783:p.Arg198His	0					RP11-177H13.2_ENST00000519692.1_RNA	p.R198H	NM_002318.2	NP_002309.1	0	0	0	1.973482	Q9Y4K0	LOXL2_HUMAN		4	962	-		Prostate(55;0.0453)|Breast(100;0.143)	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	1	1	hg19	c.593G>A	CCDS34864.1	1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000134013	ENST00000389131	T	0.01258	5.09	5.68	4.81	0.61882	5.68	4.81	0.61882	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.051494	0.85682	D	0.000000	T	0.02688	0.0081	M	0.66439	2.03	0.80722	D	1	B	0.33288	0.406	B	0.35240	0.198	T	0.54262	-0.8320	10	0.36615	T	0.2	.	11.5499	0.50715	0.0:0.9169:0.0:0.0831	.	198	Q9Y4K0	LOXL2_HUMAN	H	198	ENSP00000373783:R198H	ENSP00000373783:R198H	R	-	2	0	0	LOXL2	23254600	23254600	1.000000	0.71417	0.662000	0.29724	0.110000	0.19582	6.007000	0.70731	1.400000	0.46741	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000				100	99		489	482	1		1	1		0	0	123	0		1	1	0	5	0	314	0	100	489
LOXL2	4017	broad.mit.edu	37	8	23217627	23217627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	169					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)			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)		TCAACGAATTGTCAAATTTGA	0.478																																						ENST00000389131.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999662	0.990000	1.000000																										0				35						c.(505-507)gaC>gaT		lysyl oxidase-like 2							119.0	105.0	110.0					8																	23217627		2203	4300	6503	SO:0001819	synonymous_variant	4017	0	0					g.chr8:23217627G>A	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.507C>T	chr8.hg19:g.23217627G>A		0					RP11-177H13.2_ENST00000519692.1_RNA	p.D169D	NM_002318.2	NP_002309.1	0	0	0	1.973482	Q9Y4K0	LOXL2_HUMAN		3	876	-		Prostate(55;0.0453)|Breast(100;0.143)	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	1	1	hg19	c.507C>T	CCDS34864.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-18.033350	1	0.170000				42	41		289	283	1		1	1		0	0	59	0		1	1	0	4	0	361	0	42	289
ENTPD4	9583	broad.mit.edu	37	8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	158					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438																																						ENST00000358689.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(472-474)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 4							116.0	118.0	117.0					8																	23302059		2203	4300	6503	SO:0001583	missense	9583	0	0					g.chr8:23302059T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.473A>G	chr8.hg19:g.23302059T>C	ENSP00000351520:p.Asn158Ser	0					ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	0	0	0	1.973482	Q9Y227	ENTP4_HUMAN		5	708	-		Prostate(55;0.114)	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	1	1	hg19	c.473A>G	CCDS6041.1	1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154725	0.06544	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.79	0.318	0.15867	5.79	0.318	0.15867	.	0.342519	0.40554	N	0.001071	T	0.02649	0.0080	N	0.00991	-1.07	0.23969	N	0.996317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.46775	-0.9167	10	0.07482	T	0.82	-13.5026	10.1041	0.42521	0.0:0.3229:0.0:0.6771	.	158;158;158;158	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	S	158;158;158;124	ENSP00000348536:N158S;ENSP00000351520:N158S;ENSP00000408573:N158S;ENSP00000429455:N124S	ENSP00000348536:N158S	N	-	2	0	0	ENTPD4	23358004	23358004	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	0.624000	0.24462	0.126000	0.18424	0.460000	0.39030	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_004901			90	90		331	326	1		1	1		0	0	69	0		1	1	0	18	0	78	0	90	331
ENTPD4	9583	broad.mit.edu	37	8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	71					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418																																						ENST00000358689.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.988923	0.990000	1.000000																										0				25						c.(211-213)Ctg>Atg		ectonucleoside triphosphate diphosphohydrolase 4							165.0	126.0	140.0					8																	23305394		2203	4300	6503	SO:0001583	missense	9583	0	0					g.chr8:23305394G>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.211C>A	chr8.hg19:g.23305394G>T	ENSP00000351520:p.Leu71Met	0					ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	0	0	0	1.973482	Q9Y227	ENTP4_HUMAN		4	446	-		Prostate(55;0.114)	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	1	1	hg19	c.211C>A	CCDS6041.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959102	0.53400	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.16457	2.34;2.35;2.36	5.81	0.734	0.18294	5.81	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.59436	1.845	0.49213	D	0.999767	D;D;D;D	0.71674	0.997;0.992;0.998;0.997	D;D;D;D	0.74674	0.965;0.945;0.984;0.973	T	0.01205	-1.1419	10	0.38643	T	0.18	-15.7581	8.388	0.32512	0.4174:0.0:0.5826:0.0	.	71;71;71;71	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	M	71;71;71;37	ENSP00000348536:L71M;ENSP00000351520:L71M;ENSP00000408573:L71M	ENSP00000348536:L71M	L	-	1	2	2	ENTPD4	23361339	23361339	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	0.772000	0.26647	0.127000	0.18452	-0.781000	0.03364	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-3.318794	1	0.170000	NM_004901			41	40		365	353	1		1	1		0	0	84	0		1	9.991976e-01	0	15	0	82	0	41	365
STC1	6781	broad.mit.edu	37	8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000290271.2	-	3	568	c.285C>A	c.(283-285)agC>agA	p.S95R	STC1_ENST00000524323.1_Missense_Mutation_p.S26R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	95					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502																																						ENST00000290271.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(283-285)agC>agA		stanniocalcin 1							114.0	100.0	105.0					8																	23709021		2203	4300	6503	SO:0001583	missense	6781	0	0					g.chr8:23709021G>T		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.285C>A	chr8.hg19:g.23709021G>T	ENSP00000290271:p.Ser95Arg	0					STC1_ENST00000524323.1_Missense_Mutation_p.S26R	p.S95R	NM_003155.2	NP_003146.1	0	0	0	1.973482	P52823	STC1_HUMAN		3	568	-		Prostate(55;0.055)|Breast(100;0.116)	B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	1	1	hg19	c.285C>A	CCDS6043.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141956	0.77775	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	3.95	0.45737	5.75	3.95	0.45737	.	0.034660	0.85682	D	0.000000	T	0.66046	0.2750	L	0.51914	1.62	0.58432	D	0.999996	D	0.67145	0.996	P	0.62491	0.903	T	0.68857	-0.5298	9	0.72032	D	0.01	-3.9207	11.4007	0.49868	0.1487:0.0:0.8513:0.0	.	95	P52823	STC1_HUMAN	R	95;26;26	.	ENSP00000290271:S95R	S	-	3	2	2	STC1	23764966	23764966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	1.446000	0.47643	0.655000	0.94253	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				46	44		201	199	1		1	1		0	0	48	0		1	1	0	3	0	183	0	46	201
ADAM28	10863	broad.mit.edu	37	8	24181515	24181515	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	ADAM28_ENST00000540823.1_Splice_Site_p.T64P|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	297	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)			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)		TCAGTTAATCACGTATGTACA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(889-891)Aca>Cca		ADAM metallopeptidase domain 28							100.0	101.0	100.0					8																	24181515		2202	4298	6500	SO:0001630	splice_region_variant	10863	0	0					g.chr8:24181515A>C	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.890+1A>C	chr8.hg19:g.24181515A>C		0					ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|ADAM28_ENST00000540823.1_Splice_Site_p.T64P	p.T297P	NM_014265.4	NP_055080.2	0	0	0	1.973482	Q9UKQ2	ADA28_HUMAN		9	999	+		Prostate(55;0.0959)	B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	1	0	hg19	c.889A>C	CCDS34865.1	1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417484	0.62622	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.17	4.0	0.46444	5.17	4.0	0.46444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.45895	0.1365	H	0.96805	3.885	0.58432	D	0.99999	D;D;D	0.69078	0.99;0.997;0.987	D;D;P	0.68039	0.93;0.955;0.886	T	0.52403	-0.8580	9	0.87932	D	0	.	7.4466	0.27215	0.758:0.0:0.0:0.242	.	64;297;297	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	P	297;44;64;297	ENSP00000265769:T297P;ENSP00000380770:T44P;ENSP00000443743:T64P;ENSP00000393699:T297P	ENSP00000265769:T297P	T	+	1	0	0	ADAM28	24237460	24237460	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.571000	0.53841	0.780000	0.33566	0.528000	0.53228	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_021778	Missense_Mutation		50	50		239	237	1		1	1		0	0	63	0		1	1	0	14	0	241	0	50	239
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T	rs376286647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000256412.4	+	6	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000256412.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(598-600)Cga>Tga		ADAM-like, decysin 1							180.0	175.0	176.0					8																	24254940		2203	4300	6503	SO:0001587	stop_gained	27299	2	121412	40				g.chr8:24254940C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.598C>T	chr8.hg19:g.24254940C>T	ENSP00000256412:p.Arg200*	0					ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	p.R200*	NM_014479.3	NP_055294.1	0	0	0	1.973482	O15204	ADEC1_HUMAN		6	818	+		Prostate(55;0.0181)	B7ZAK5	Nonsense_Mutation	SNP	ENST00000256412.4	0	1	hg19	c.598C>T	CCDS6044.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.349813	0.95830	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	.	.	.	5.53	4.63	0.57726	5.53	4.63	0.57726	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.4743	11.5455	0.50690	0.1789:0.8211:0.0:0.0	.	.	.	.	X	200;121;121	.	ENSP00000256412:R200X	R	+	1	2	2	ADAMDEC1	24310885	24310885	0.910000	0.30920	0.080000	0.20451	0.010000	0.07245	1.631000	0.37092	1.297000	0.44761	0.557000	0.71058	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	1	0	1		2	2	2	0		0	0	137		137	136	1	2.060000	-20.000000	1	0.170000	NM_014479			144	142		622	611	1		1	0		0	0	137	0		1	1	0	0	0	129	0	144	622
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V72V|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																																						ENST00000175238.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V300V(1)	large_intestine(1)	64						c.(898-900)gtG>gtA		ADAM metallopeptidase domain 7							153.0	147.0	149.0					8																	24342814		2203	4300	6503	SO:0001819	synonymous_variant	8756	0	0					g.chr8:24342814G>A	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	chr8.hg19:g.24342814G>A		0					ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000519689.1_RNA	p.V300V	NM_003817.3	NP_003808.2	0	0	0	1.973482	Q9H2U9	ADAM7_HUMAN		10	983	+		Prostate(55;0.0181)	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	1	1	hg19	c.900G>A	CCDS6045.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_003817			81	80		481	469	1		1			0	0	100	0		1	0	0	0	0	0	0	81	481
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	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)			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)		GTACTTGAAGGATTATAAGCC	0.353																																						ENST00000175238.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				64						c.(1150-1152)Gat>Aat		ADAM metallopeptidase domain 7							156.0	134.0	141.0					8																	24346730		2203	4300	6503	SO:0001583	missense	8756	0	0					g.chr8:24346730G>A	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.1150G>A	chr8.hg19:g.24346730G>A	ENSP00000175238:p.Asp384Asn	0					ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-624C23.1_ENST00000519689.1_RNA	p.D384N	NM_003817.3	NP_003808.2	0	0	0	1.973482	Q9H2U9	ADAM7_HUMAN		12	1233	+		Prostate(55;0.0181)	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	1	1	hg19	c.1150G>A	CCDS6045.1	1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248736	0.22880	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.62364	0.03;0.03;0.03	5.74	1.98	0.26296	5.74	1.98	0.26296	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.38692	0.1050	N	0.11892	0.195	0.09310	N	1	B;B	0.25048	0.046;0.117	B;B	0.31812	0.027;0.136	T	0.30090	-0.9990	10	0.09338	T	0.73	.	8.2486	0.31704	0.3886:0.0:0.6114:0.0	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	384;384;156;199	ENSP00000175238:D384N;ENSP00000370166:D384N;ENSP00000430400:D156N	ENSP00000175238:D384N	D	+	1	0	0	ADAM7	24402620	24402620	0.011000	0.17503	0.008000	0.14137	0.007000	0.05969	0.470000	0.22084	0.079000	0.16929	-0.136000	0.14681	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_003817			48	43		281	275	1		1			0	0	57	0		1	0	0	0	0	0	0	48	281
NEFM	4741	broad.mit.edu	37	8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	292	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)			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)		CGAAGAGTGGTTCAAATGCCG	0.597																																						ENST00000221166.5	1.000000	0.500000	9.800000e-01	6.300000e-01	0.790000	0.801504	0.790000	1.000000																										0				36						c.(874-876)Ttc>Ctc		neurofilament, medium polypeptide							103.0	85.0	91.0					8																	24772180		2203	4300	6503	SO:0001583	missense	4741	0	0					g.chr8:24772180T>C	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.874T>C	chr8.hg19:g.24772180T>C	ENSP00000221166:p.Phe292Leu	0					NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR	p.F292L			0	0	0	1.973482	P07197	NFM_HUMAN		1	1656	+		Prostate(55;0.157)	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	1	1	hg19	c.874T>C	CCDS6046.1	0	.	.	.	.	.	.	.	.	.	.	T	31	5.079353	0.94050	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91295	-2.82;-2.82;-2.82	4.69	4.69	0.59074	4.69	4.69	0.59074	Filament (1);	0.000000	0.45361	D	0.000378	D	0.95092	0.8410	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95728	0.8772	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	292;292	E7EMV2;P07197	.;NFM_HUMAN	L	292	ENSP00000221166:F292L;ENSP00000427872:F292L;ENSP00000410137:F292L	ENSP00000221166:F292L	F	+	1	0	0	NEFM	24828085	24828085	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.984000	0.88150	1.873000	0.54277	0.383000	0.25322	TTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-19.999810	1	0.170000	NM_005382			19	19		258	256	0		1	0		0	0	64	0		9.999915e-01	2.899367e-02	0	0	0	4	0	19	258
NEFL	4747	broad.mit.edu	37	8	24813505	24813505	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	ENST00000221169.5	-	0	1119				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|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)		CATAGCGCGCCTGCAGGTTGC	0.716																																						ENST00000221169.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999864	0.990000	1.000000																										0				21								neurofilament, light polypeptide							12.0	13.0	12.0					8																	24813505		1986	4139	6125			4747	0	0					g.chr8:24813505C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		chr8.hg19:g.24813505C>T		0					CTD-2168K21.2_ENST00000607735.1_RNA				0	0	0	1.973482	P07196	NFL_HUMAN		0	1119	-		Ovarian(32;0.00965)|Prostate(55;0.157)	B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	1	1	hg19			1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	0	0	0		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_006158			24	23		120	119	0		1			0	0	20	0		9.999998e-01	0	0	0	0	0	0	24	120
DOCK5	80005	broad.mit.edu	37	8	25183050	25183050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	630					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		GCTCCACAAAGCTCACCCAGA	0.478																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(1888-1890)aaG>aaA		dedicator of cytokinesis 5							108.0	95.0	99.0					8																	25183050		2203	4300	6503	SO:0001819	synonymous_variant	80005	0	0					g.chr8:25183050G>A		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.1890G>A	chr8.hg19:g.25183050G>A		0						p.K630K	NM_024940.6	NP_079216.4	0	0	0	1.973482	Q9H7D0	DOCK5_HUMAN		18	1934	+		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)	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	1	1	hg19	c.1890G>A	CCDS6047.1	1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043369	0.19748	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	2.62	0.31277	5.8	2.62	0.31277	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	.	11.7724	0.51967	0.2787:0.0:0.7213:0.0	.	.	.	.	T	402	.	.	A	+	1	0	0	DOCK5	25238967	25238967	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.541000	0.23207	0.803000	0.34113	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_024940			58	57		272	265	0		1	1		0	0	76	0		1	9.987937e-01	0	10	0	40	0	58	272
DOCK5	80005	broad.mit.edu	37	8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	746					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		TAATGCAGATGACTCCAGCAA	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999722	0.990000	1.000000																										0				72						c.(2236-2238)Gac>Aac		dedicator of cytokinesis 5							106.0	98.0	101.0					8																	25193798		2203	4300	6503	SO:0001583	missense	80005	0	0					g.chr8:25193798G>A		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.2236G>A	chr8.hg19:g.25193798G>A	ENSP00000276440:p.Asp746Asn	0						p.D746N	NM_024940.6	NP_079216.4	0	0	0	1.973482	Q9H7D0	DOCK5_HUMAN		22	2280	+		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)	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	1	1	hg19	c.2236G>A	CCDS6047.1	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374598	0.42105	.	.	ENSG00000147459	ENST00000276440	T	0.22336	1.96	5.76	5.76	0.90799	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100113	0.64402	D	0.000002	T	0.30479	0.0766	M	0.71036	2.16	0.80722	D	1	B;B;B	0.30179	0.006;0.271;0.006	B;B;B	0.30716	0.004;0.119;0.004	T	0.03095	-1.1073	10	0.39692	T	0.17	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	736;521;746	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	N	746	ENSP00000276440:D746N	ENSP00000276440:D746N	D	+	1	0	0	DOCK5	25249715	25249715	1.000000	0.71417	0.969000	0.41365	0.320000	0.28249	6.701000	0.74624	2.879000	0.98667	0.650000	0.86243	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-14.771210	1	0.170000	NM_024940			26	26		147	145	1		1	1		0	0	28	0		1	9.941386e-01	0	13	0	36	0	26	147
DOCK5	80005	broad.mit.edu	37	8	25246651	25246651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1392	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		AGAGGCGAGAGGACTTCAGCC	0.502																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				72						c.(4174-4176)gaG>gaA		dedicator of cytokinesis 5							122.0	106.0	112.0					8																	25246651		2203	4300	6503	SO:0001819	synonymous_variant	80005	0	0					g.chr8:25246651G>A		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.4176G>A	chr8.hg19:g.25246651G>A		0						p.E1392E	NM_024940.6	NP_079216.4	0	0	0	1.973482	Q9H7D0	DOCK5_HUMAN		41	4220	+		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)	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	1	1	hg19	c.4176G>A	CCDS6047.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-3.805073	1	0.170000	NM_024940			68	68		246	242	1		1	1		0	0	59	0		1	9.996753e-01	0	10	0	36	0	68	246
GNRH1	2796	broad.mit.edu	37	8	25280756	25280756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	ENST00000276414.4	-	1	1414	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	RP11-395I14.2_ENST00000523840.1_lincRNA|GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	31			R -> C (in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1). {ECO:0000269|PubMed:23643382}.		cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CCTCCAGGGCGCAGTCCATAG	0.433																																						ENST00000276414.4	0.580000	0.230000	4.900000e-01	3.000000e-01	0.380000	0.399845	0.380000	0.380000																										0				1						c.(91-93)Cgc>Tgc		gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)							100.0	101.0	100.0					8																	25280756		1866	4101	5967	SO:0001583	missense	2796	0	0					g.chr8:25280756G>A	X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"""Endogenous ligands"""	4419	protein-coding gene	gene with protein product		152760	"""gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"""	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.91C>T	chr8.hg19:g.25280756G>A	ENSP00000276414:p.Arg31Cys	0					GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C|RP11-395I14.2_ENST00000523840.1_lincRNA	p.R31C	NM_000825.3	NP_000816.4	0	0	0	1.973482	P01148	GON1_HUMAN		1	1414	-		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)	A0AVP0	Missense_Mutation	SNP	ENST00000276414.4	0	1	hg19	c.91C>T	CCDS43725.1	0	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757146	0.49468	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	5.18	5.18	0.71444	Gonadotropin-releasing hormone (2);	0.179711	0.39210	N	0.001430	T	0.70168	0.3193	.	.	.	0.51482	D	0.999924	D	0.89917	1.0	D	0.73380	0.98	T	0.73855	-0.3851	9	0.87932	D	0	-20.4773	17.8458	0.88730	0.0:0.0:1.0:0.0	.	31	P01148	GON1_HUMAN	C	31	ENSP00000391280:R31C;ENSP00000276414:R31C	ENSP00000276414:R31C	R	-	1	0	0	GNRH1	25336673	25336673	1.000000	0.71417	0.983000	0.44433	0.001000	0.01503	5.208000	0.65203	2.686000	0.91538	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375982.1	0	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-2.975897	1	0.170000	NM_001083111			17	17		499	493	0		1	0		0	0	111	0		9.999625e-01	4.666523e-02	0	0	0	10	0	17	499
KCTD9	54793	broad.mit.edu	37	8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	227					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGATCAGCACCACTGAAGTTC	0.348																																						ENST00000221200.4	1.000000	0.420000	9.200000e-01	5.600000e-01	0.720000	0.739488	0.720000	1.000000																										0				12						c.(679-681)Ggt>Tgt		potassium channel tetramerization domain containing 9							72.0	69.0	70.0					8																	25293013		2203	4300	6503	SO:0001583	missense	54793	0	0					g.chr8:25293013C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.679G>T	chr8.hg19:g.25293013C>A	ENSP00000221200:p.Gly227Cys	0						p.G227C	NM_017634.3	NP_060104.2	0	0	0	1.973482	Q7L273	KCTD9_HUMAN		9	899	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	0	1	hg19	c.679G>T	CCDS6048.1	0	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885195	0.91814	.	.	ENSG00000104756	ENST00000221200	T	0.51817	0.69	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.77075	0.4077	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	227	Q7L273	KCTD9_HUMAN	C	227	ENSP00000221200:G227C	ENSP00000221200:G227C	G	-	1	0	0	KCTD9	25348930	25348930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	1	0	1		2	2	2	0		0	0	50		50	51	1	2.060000	-2.775539	1	0.170000	NM_017634			15	15		226	221	1		1	1		0	0	50	0		9.998673e-01	9.991106e-01	0	22	0	158	0	15	226
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T	rs371312809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458																																						ENST00000330560.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R328C(1)	large_intestine(1)	35						c.(982-984)Cgt>Tgt		cell division cycle associated 2		C	CYS/ARG	0,4406		0,0,2203	112.0	99.0	103.0		982	5.3	1.0	8		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCA2	NM_152562.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/1024	25337590	1,13005	2203	4300	6503	SO:0001583	missense	157313	0	0					g.chr8:25337590C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.982C>T	chr8.hg19:g.25337590C>T	ENSP00000328228:p.Arg328Cys	0					CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	p.R328C	NM_152562.2	NP_689775.2	0	0	0	1.973482	Q69YH5	CDCA2_HUMAN		8	1459	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	1	1	hg19	c.982C>T	CCDS6049.1	1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	0	CDCA2	25393507	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	1	0	1		2	2	2	0		0	0	48		48	46	1	2.060000	-3.598454	1	0.170000	NM_152562			49	47		200	192	1		1	1		0	0	48	0		1	5.578674e-01	0	3	0	6	0	49	200
CDCA2	157313	broad.mit.edu	37	8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	694					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338																																						ENST00000330560.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2080-2082)Gca>Aca		cell division cycle associated 2							32.0	34.0	33.0					8																	25364262		2194	4296	6490	SO:0001583	missense	157313	0	0					g.chr8:25364262G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2080G>A	chr8.hg19:g.25364262G>A	ENSP00000328228:p.Ala694Thr	0					CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T|CDCA2_ENST00000521098.2_3'UTR	p.A694T	NM_152562.2	NP_689775.2	0	0	0	1.973482	Q69YH5	CDCA2_HUMAN		15	2557	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	1	1	hg19	c.2080G>A	CCDS6049.1	1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	4.63	3.75	0.43078	4.63	3.75	0.43078	.	0.677027	0.14755	N	0.300370	T	0.38931	0.1059	L	0.48642	1.525	0.20975	N	0.999814	P;P	0.46912	0.886;0.886	P;P	0.44673	0.457;0.457	T	0.18429	-1.0337	10	0.49607	T	0.09	-8.0648	8.8171	0.35002	0.1032:0.0:0.8968:0.0	.	679;694	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	694;679;93	ENSP00000328228:A694T;ENSP00000370040:A679T	ENSP00000328228:A694T	A	+	1	0	0	CDCA2	25420179	25420179	0.128000	0.22383	0.589000	0.28718	0.117000	0.20001	1.297000	0.33400	1.323000	0.45263	0.650000	0.86243	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_152562			51	46		204	204	1		1	1		0	0	46	0		1	7.230214e-01	0	4	0	8	0	51	204
PPP2R2A	5520	broad.mit.edu	37	8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	12					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)			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)		TGATATTCAGTGGTGTTTTTC	0.368																																						ENST00000380737.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(34-36)Tgg>Cgg		protein phosphatase 2, regulatory subunit B, alpha							163.0	156.0	158.0					8																	26151208		2203	4300	6503	SO:0001583	missense	5520	0	0					g.chr8:26151208T>C	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.34T>C	chr8.hg19:g.26151208T>C	ENSP00000370113:p.Trp12Arg	0					PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	p.W12R	NM_002717.3	NP_002708.1	0	0	0	1.973482	P63151	2ABA_HUMAN		2	363	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	1	1	hg19	c.34T>C	CCDS34867.1	1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326202	0.41197	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42131	1.0;0.98	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000001	T	0.71426	0.3338	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.98	T	0.78661	-0.2117	10	0.72032	D	0.01	-13.4676	14.9406	0.70992	0.0:0.0:0.0:1.0	.	22;12	B4E1T7;P63151	.;2ABA_HUMAN	R	12;22	ENSP00000370113:W12R;ENSP00000325074:W22R	ENSP00000325074:W22R	W	+	1	0	0	PPP2R2A	26207125	26207125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.162000	0.67917	0.460000	0.39030	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	0	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_002717			61	60		275	269	1		1	1		0	0	68	0		1	1	0	59	0	135	0	61	275
PPP2R2A	5520	broad.mit.edu	37	8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	402					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)			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)		CAAGTGGCAAGCGAAAGAAAG	0.448																																						ENST00000380737.3	1.000000	0.430000	1	5.800000e-01	0.780000	0.781327	0.780000	1.000000																										0				4						c.(1204-1206)aaG>aaT		protein phosphatase 2, regulatory subunit B, alpha							80.0	79.0	79.0					8																	26227791		2203	4300	6503	SO:0001583	missense	5520	0	0					g.chr8:26227791G>T	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.1206G>T	chr8.hg19:g.26227791G>T	ENSP00000370113:p.Lys402Asn	0					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	p.K402N	NM_002717.3	NP_002708.1	0	0	0	1.973482	P63151	2ABA_HUMAN		10	1535	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	1	1	hg19	c.1206G>T	CCDS34867.1	0	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978364	0.53720	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.47528	1.46;0.84;1.45	5.25	4.37	0.52481	5.25	4.37	0.52481	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	M	0.86028	2.79	0.58432	D	0.999999	P;B;D	0.60575	0.885;0.182;0.988	B;B;D	0.65233	0.365;0.032;0.933	T	0.70988	-0.4722	10	0.59425	D	0.04	-20.1387	12.1547	0.54070	0.1307:0.0:0.8693:0.0	.	412;402;403	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	402;181;412	ENSP00000370113:K402N;ENSP00000430320:K181N;ENSP00000325074:K412N	ENSP00000325074:K412N	K	+	3	2	2	PPP2R2A	26283708	26283708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.670000	0.37502	2.885000	0.99019	0.655000	0.94253	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-16.516100	1	0.170000	NM_002717			12	11		168	161	1		1	1		0	0	37	0		9.989679e-01	9.998296e-01	0	29	0	198	0	12	168
BNIP3L	665	broad.mit.edu	37	8	26265551	26265551	+	Silent	SNP	C	C	T	rs201574024		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26265551C>T	ENST00000380629.2	+	4	626	c.393C>T	c.(391-393)gtC>gtT	p.V131V	BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000520409.1_Silent_p.V91V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	131					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(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;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		AGAAGGAAGTCGAGGCTTTGA	0.403																																						ENST00000380629.2	0.570000	0.130000	4.400000e-01	2.100000e-01	0.310000	0.330514	0.310000	0.290000																										0				4						c.(391-393)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 3-like							97.0	91.0	93.0					8																	26265551		2203	4300	6503	SO:0001819	synonymous_variant	665	0	0					g.chr8:26265551C>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.393C>T	chr8.hg19:g.26265551C>T		0					BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR	p.V131V	NM_004331.2	NP_004322.1	0	0	0	1.973482	O60238	BNI3L_HUMAN		4	626	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	B0AZS9|Q5JW63|Q8NF87	Silent	SNP	ENST00000380629.2	0	1	hg19	c.393C>T	CCDS6050.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.552409	1	0.170000	NM_004331			7	7		267	253	0		1	1		0	0	69	0		9.770717e-01	9.996890e-01	0	37	0	636	0	7	267
PNMA2	10687	broad.mit.edu	37	8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	359					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478																																						ENST00000522362.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1075-1077)aAt>aCt		paraneoplastic Ma antigen 2							101.0	103.0	102.0					8																	26365196		2203	4300	6503	SO:0001583	missense	10687	0	0					g.chr8:26365196T>G		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1076A>C	chr8.hg19:g.26365196T>G	ENSP00000429344:p.Asn359Thr	0					PNMA2_ENST00000522764.1_5'Flank	p.N359T	NM_007257.5	NP_009188.1	0	0	0	1.973482	Q9UL42	PNMA2_HUMAN		3	1970	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	1	1	hg19	c.1076A>C	CCDS34868.1	1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238753	0.22711	.	.	ENSG00000240694	ENST00000522362	T	0.08634	3.07	4.32	0.602	0.17535	4.32	0.602	0.17535	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39396	-0.9616	9	0.62326	D	0.03	-3.4143	2.7839	0.05368	0.218:0.2161:0.0:0.566	.	359	Q9UL42	PNMA2_HUMAN	T	359	ENSP00000429344:N359T	ENSP00000429344:N359T	N	-	2	0	0	PNMA2	26421113	26421113	0.077000	0.21312	0.091000	0.20842	0.009000	0.06853	0.103000	0.15292	0.101000	0.17610	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	1	0	1		2	2	2	0		0	0	148		148	145	1	2.060000	-20.000000	1	0.170000	NM_007257			132	128		627	609	1		1	1		0	0	148	0		1	9.999987e-01	0	24	0	67	0	132	627
DPYSL2	1808	broad.mit.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					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.A243T(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)		CATCACCATCGCCAACCAGAC	0.582																																						ENST00000311151.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A243T(1)	large_intestine(1)	20						c.(727-729)Gcc>Acc		dihydropyrimidinase-like 2							150.0	121.0	131.0					8																	26492332		2203	4300	6503	SO:0001583	missense	1808	0	0					g.chr8:26492332G>A	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.727G>A	chr8.hg19:g.26492332G>A	ENSP00000309539:p.Ala243Thr	0					DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	p.A243T	NM_001386.5	NP_001377.1	0	0	0	1.973482	Q16555	DPYL2_HUMAN		8	1139	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	1	1	hg19	c.727G>A	CCDS6051.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	0	DPYSL2	26548249	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	1	0	1		2	2	2	0		0	0	110		110	107	1	2.060000	-20.000000	1	0.170000	NM_001386			94	92		419	408	1		1	1		0	0	110	0		1	1	0	67	0	245	0	94	419
TRIM35	23087	broad.mit.edu	37	8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687																																						ENST00000305364.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999860	0.990000	1.000000																										0				14						c.(1336-1338)cGc>cAc		tripartite motif containing 35																																				SO:0001583	missense	23087	2	121344	26				g.chr8:27145212C>T	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1337G>A	chr8.hg19:g.27145212C>T	ENSP00000301924:p.Arg446His	0						p.R446H	NM_171982.3	NP_741983.2	0	0	0	1.973482	Q9UPQ4	TRI35_HUMAN		6	1420	-		Ovarian(32;2.61e-05)	Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	1	1	hg19	c.1337G>A	CCDS6056.2	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527742	0.44969	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61392	0.11	5.23	3.45	0.39498	5.23	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.338941	0.29572	N	0.011771	T	0.48537	0.1505	L	0.48986	1.54	0.21627	N	0.999612	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.66056	D	0.02	.	7.9606	0.30068	0.0:0.8115:0.0:0.1885	.	446	Q9UPQ4	TRI35_HUMAN	H	446	ENSP00000301924:R446H	ENSP00000301924:R446H	R	-	2	0	0	TRIM35	27201129	27201129	0.000000	0.05858	0.854000	0.33618	0.525000	0.34531	0.002000	0.13061	0.607000	0.29982	0.462000	0.41574	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_171982			16	15		54	54	1		1	1		0	0	14	0		9.999650e-01	9.970248e-01	0	10	0	27	0	16	54
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	C	T	rs530386451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000544172.1_Silent_p.I939I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000338238.4_Silent_p.I897I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	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)			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)	TCCTACAGATCGAGGGCACCC	0.557																																						ENST00000397501.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999631	0.990000	1.000000																										0				47						c.(2815-2817)atC>atT		protein tyrosine kinase 2 beta	Leflunomide(DB01097)						62.0	49.0	54.0					8																	27315813		2203	4300	6503	SO:0001819	synonymous_variant	2185	5	121412	33				g.chr8:27315813C>T	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.2817C>T	chr8.hg19:g.27315813C>T		0					PTK2B_ENST00000544172.1_Silent_p.I939I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I	p.I939I	NM_173174.2	NP_775266.1	0	0	0	1.973482	Q14289	FAK2_HUMAN		36	3625	+		Ovarian(32;2.72e-05)	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	1	1	hg19	c.2817C>T	CCDS6057.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_004103			20	20		100	100	1		1	1		0	0	42	0		9.999975e-01	1	0	33	0	165	0	20	100
CHRNA2	1135	broad.mit.edu	37	8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000520933.2	-	5	1312	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	387					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)			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)	CAGAGCTCCACGGGTGGTGGG	0.682																																						ENST00000520933.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1159-1161)Gtg>Atg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	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)						49.0	48.0	48.0					8																	27320801		2203	4300	6503	SO:0001583	missense	1135	5	121392	34				g.chr8:27320801C>T	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.1159G>A	chr8.hg19:g.27320801C>T	ENSP00000429616:p.Val387Met	0					CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M	p.V387M			0	0	0	1.973482	Q15822	ACHA2_HUMAN		5	1312	-		Ovarian(32;2.61e-05)	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	1	1	hg19	c.1159G>A	CCDS6059.1	1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516690	0.27123	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	-4.23	0.03789	5.03	-4.23	0.03789	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.830630	0.02479	N	0.088260	T	0.70237	0.3201	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.006	B;B	0.23419	0.046;0.017	T	0.55774	-0.8088	10	0.39692	T	0.17	.	2.1659	0.03837	0.2773:0.3281:0.2811:0.1135	.	372;387	B4DK19;Q15822	.;ACHA2_HUMAN	M	387;387;372	ENSP00000385026:V387M;ENSP00000429616:V387M;ENSP00000240132:V372M	ENSP00000240132:V372M	V	-	1	0	0	CHRNA2	27376718	27376718	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	-2.291000	0.01147	-1.026000	0.03330	-0.363000	0.07495	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-3.629594	1	0.170000				64	64		257	250	1		1			0	0	56	0		1	0	0	0	0	0	0	64	257
CHRNA2	1135	broad.mit.edu	37	8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000520933.2	-	2	430	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000240132.2_Intron|CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	93					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)			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)	ATGAGCTGAGCGATGGACAGT	0.632																																						ENST00000520933.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(277-279)Gct>Act		cholinergic receptor, nicotinic, alpha 2 (neuronal)	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)						133.0	114.0	121.0					8																	27327295		2203	4300	6503	SO:0001583	missense	1135	1	121412	32				g.chr8:27327295C>T	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.277G>A	chr8.hg19:g.27327295C>T	ENSP00000429616:p.Ala93Thr	0					CHRNA2_ENST00000240132.2_Intron|CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T	p.A93T			0	0	0	1.973482	Q15822	ACHA2_HUMAN		2	430	-		Ovarian(32;2.61e-05)	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	1	1	hg19	c.277G>A	CCDS6059.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283043	0.80803	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78481	-1.18;-1.18;-1.18	4.77	4.77	0.60923	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101921	0.64402	D	0.000002	T	0.65585	0.2705	N	0.17723	0.515	0.58432	D	0.999999	P	0.47034	0.889	B	0.40782	0.34	T	0.68606	-0.5364	10	0.39692	T	0.17	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	93	Q15822	ACHA2_HUMAN	T	93	ENSP00000385026:A93T;ENSP00000429616:A93T;ENSP00000430422:A93T	ENSP00000385026:A93T	A	-	1	0	0	CHRNA2	27383212	27383212	0.992000	0.36948	0.914000	0.36105	0.807000	0.45602	3.017000	0.49615	2.653000	0.90120	0.561000	0.74099	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-3.076731	1	0.170000				115	114		611	605	1		1			0	0	131	0		1	0	0	0	0	0	0	115	611
CLU	1191	broad.mit.edu	37	8	27462673	27462673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000560366.1_Silent_p.E251E|CLU_ENST00000546343.1_Silent_p.E210E			P10909	CLUS_HUMAN	clusterin	199					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)			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)		TATCCTGGGGCTCCCGGGTGA	0.607																																						ENST00000316403.10	1.000000	0.710000	1	8.600000e-01	0.990000	0.952673	0.990000	1.000000																										0				21						c.(595-597)gaG>gaA		clusterin							88.0	81.0	83.0					8																	27462673		2203	4300	6503	SO:0001819	synonymous_variant	1191	0	0					g.chr8:27462673C>T	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.597G>A	chr8.hg19:g.27462673C>T		0					CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000560366.1_Silent_p.E251E	p.E199E			0	0	0	1.973482	P10909	CLUS_HUMAN		5	1002	-		Ovarian(32;2.61e-05)	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	1	1	hg19	c.597G>A	CCDS47832.1	1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114995	0.06881	.	.	ENSG00000120885	ENST00000522098	.	.	.	4.96	3.02	0.34903	4.96	3.02	0.34903	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-11.4326	7.7861	0.29093	0.0:0.7189:0.1797:0.1015	.	.	.	.	T	62	.	.	A	-	1	0	0	CLU	27518590	27518590	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.089000	0.15002	1.079000	0.41038	0.563000	0.77884	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_001831			27	27		272	265	0		1	1		0	0	53	0		1	1	0	762	0	3457	0	27	272
SCARA3	51435	broad.mit.edu	37	8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	90					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468																																						ENST00000301904.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(268-270)Acc>Gcc		scavenger receptor class A, member 3							120.0	111.0	114.0					8																	27514340		2203	4300	6503	SO:0001583	missense	51435	0	0					g.chr8:27514340A>G	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.268A>G	chr8.hg19:g.27514340A>G	ENSP00000301904:p.Thr90Ala	0					SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	p.T90A	NM_016240.2	NP_057324.2	0	0	0	1.973482	Q6AZY7	SCAR3_HUMAN		4	288	+		Ovarian(32;2.61e-05)	Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	1	1	hg19	c.268A>G	CCDS34871.1	1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482141	0.12581	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90444	2.63;-2.67	5.81	2.65	0.31530	5.81	2.65	0.31530	.	0.369337	0.26119	N	0.026238	T	0.78534	0.4298	N	0.24115	0.695	0.22424	N	0.999119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59500	-0.7443	10	0.17369	T	0.5	-11.845	2.8434	0.05536	0.3555:0.0:0.4459:0.1986	.	90;90	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	A	90	ENSP00000337985:T90A;ENSP00000301904:T90A	ENSP00000301904:T90A	T	+	1	0	0	SCARA3	27570259	27570259	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.245000	0.32790	0.788000	0.33755	-0.242000	0.12053	ACC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_016240			86	85		442	435	1		1	1		0	0	80	0		1	9.999923e-01	0	12	0	76	0	86	442
CCDC25	55246	broad.mit.edu	37	8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	153						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403																																						ENST00000356537.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(457-459)Cgt>Tgt		coiled-coil domain containing 25							128.0	124.0	126.0					8																	27605688		2203	4300	6503	SO:0001583	missense	55246	10	121410	40				g.chr8:27605688G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.457C>T	chr8.hg19:g.27605688G>A	ENSP00000348933:p.Arg153Cys	0					RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C	p.R153C	NM_018246.2	NP_060716.2	0	0	0	1.973482	Q86WR0	CCD25_HUMAN		7	550	-		Ovarian(32;0.000953)	Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	1	1	hg19	c.457C>T	CCDS6062.2	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481698	0.44147	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.205907	0.40469	N	0.001099	T	0.59514	0.2199	L	0.52823	1.66	0.53688	D	0.999978	B	0.14012	0.009	B	0.06405	0.002	T	0.56655	-0.7943	9	0.48119	T	0.1	-0.3323	16.5983	0.84802	0.0:0.0:1.0:0.0	.	153	Q86WR0	CCD25_HUMAN	C	153;85;85	.	ENSP00000348933:R153C	R	-	1	0	0	CCDC25	27661607	27661607	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.308000	0.51896	2.523000	0.85059	0.655000	0.94253	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	1	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-3.147276	1	0.170000	NM_018246			82	79		432	424	1		1	1		0	0	76	0		1	1	0	63	0	172	0	82	432
CCDC25	55246	broad.mit.edu	37	8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A	rs374219944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	140						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCTGGGAACCGCTCGACTTTG	0.393																																						ENST00000356537.4	0.690000	0.290000	5.900000e-01	3.700000e-01	0.470000	0.485048	0.470000	0.460000																										0				7						c.(418-420)Cgg>Tgg		coiled-coil domain containing 25		G	TRP/ARG	0,4406		0,0,2203	126.0	122.0	123.0		418	3.7	1.0	8		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC25	NM_018246.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/209	27605727	1,13005	2203	4300	6503	SO:0001583	missense	55246	1	121410	35				g.chr8:27605727G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.418C>T	chr8.hg19:g.27605727G>A	ENSP00000348933:p.Arg140Trp	0					RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W	p.R140W	NM_018246.2	NP_060716.2	0	0	0	1.973482	Q86WR0	CCD25_HUMAN		7	511	-		Ovarian(32;0.000953)	Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	1	1	hg19	c.418C>T	CCDS6062.2	0	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375397	0.82682	0.0	1.16E-4	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	3.72	0.42706	5.61	3.72	0.42706	.	0.061313	0.64402	D	0.000002	T	0.79293	0.4421	M	0.86651	2.83	0.46981	D	0.999275	D	0.89917	1.0	D	0.65987	0.94	T	0.81684	-0.0821	9	0.87932	D	0	-6.8299	12.373	0.55265	0.0:0.0:0.6832:0.3168	.	140	Q86WR0	CCD25_HUMAN	W	140;72;72	.	ENSP00000348933:R140W	R	-	1	2	2	CCDC25	27661646	27661646	0.993000	0.37304	0.988000	0.46212	0.964000	0.63967	3.511000	0.53400	0.644000	0.30656	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-3.268795	1	0.170000	NM_018246			19	18		453	446	0		1	1		0	0	59	0		9.999895e-01	9.983481e-01	0	13	0	232	0	19	453
ESCO2	157570	broad.mit.edu	37	8	27634227	27634227	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	134					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338									SC Phocomelia syndrome																													ENST00000305188.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(400-402)aaG>aaA		establishment of sister chromatid cohesion N-acetyltransferase 2							57.0	55.0	55.0					8																	27634227		2203	4300	6503	SO:0001819	synonymous_variant	157570	0	0		SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	g.chr8:27634227G>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.402G>A	chr8.hg19:g.27634227G>A		0					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	p.K134K	NM_001017420.2	NP_001017420.1	0	0	0	1.973482	Q56NI9	ESCO2_HUMAN		3	640	+		Ovarian(32;0.000953)	B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	1	1	hg19	c.402G>A	CCDS34872.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_001017420			50	49		186	183	1		1	1		0	0	53	0		1	8.552186e-01	0	6	0	9	0	50	186
SCARA5	286133	broad.mit.edu	37	8	27737093	27737093	+	Silent	SNP	G	G	A	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	448	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18283	0.0		0.0	False		,,,				2504	0.0					ENST00000354914.3	0.760000	0.370000	6.600000e-01	4.500000e-01	0.550000	0.564024	0.550000	0.550000																										0				18						c.(1342-1344)ttC>ttT		scavenger receptor class A, member 5		G		5,4401	9.9+/-24.2	0,5,2198	140.0	108.0	119.0		1344	-2.5	0.7	8	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	SCARA5	NM_173833.5		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		448/496	27737093	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	286133	11	121412	46				g.chr8:27737093G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1344C>T	chr8.hg19:g.27737093G>A		0					SCARA5_ENST00000380385.2_Silent_p.F223F	p.F448F	NM_173833.5	NP_776194.2	0	0	0	1.973482	Q6ZMJ2	SCAR5_HUMAN		8	1829	-		Ovarian(32;0.0218)	Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	1	1	hg19	c.1344C>T	CCDS6064.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	1	0	1		2	2	2	0		0	0	116		116	114	1	2.060000	-2.920853	1	0.170000	NM_173833			29	29		582	571	0		1	0		0	0	116	0		1	0	0	0	0	1	0	29	582
ELP3	55140	broad.mit.edu	37	8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	230					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|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)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418																																						ENST00000256398.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(688-690)Cga>Tga		elongator acetyltransferase complex subunit 3							204.0	192.0	196.0					8																	27987089		2203	4300	6503	SO:0001587	stop_gained	55140	0	0					g.chr8:27987089C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.688C>T	chr8.hg19:g.27987089C>T	ENSP00000256398:p.Arg230*	0					ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*	p.R230*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	0	0	0	1.973482	Q9H9T3	ELP3_HUMAN		8	1065	+		Ovarian(32;0.0218)	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Nonsense_Mutation	SNP	ENST00000256398.8	0	1	hg19	c.688C>T	CCDS6065.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.072355	0.93950	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	4.53	2.53	0.30540	4.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7133	11.0472	0.47865	0.3306:0.6694:0.0:0.0	.	.	.	.	X	216;230;101;158;111;138	.	ENSP00000256398:R230X	R	+	1	2	2	ELP3	28043008	28043008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.607000	0.36836	1.213000	0.43380	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_018091			135	127		503	492	1		1	1		0	0	102	0		1	9.999999e-01	0	3	0	83	0	135	503
ELP3	55140	broad.mit.edu	37	8	27989836	27989836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27989836C>T	ENST00000256398.8	+	9	1198	c.821C>T	c.(820-822)gCc>gTc	p.A274V	ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	274					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|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)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCACCTGGCCAAAGATTCC	0.443																																						ENST00000256398.8	0.670000	0.140000	5.100000e-01	2.300000e-01	0.350000	0.377724	0.350000	0.330000																										0				10						c.(820-822)gCc>gTc		elongator acetyltransferase complex subunit 3							128.0	110.0	116.0					8																	27989836		2203	4300	6503	SO:0001583	missense	55140	0	0					g.chr8:27989836C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.821C>T	chr8.hg19:g.27989836C>T	ENSP00000256398:p.Ala274Val	0					ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V	p.A274V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	0	0	0	1.973482	Q9H9T3	ELP3_HUMAN		9	1198	+		Ovarian(32;0.0218)	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	0	1	hg19	c.821C>T	CCDS6065.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114248	0.77210	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.26	5.26	0.73747	5.26	5.26	0.73747	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.110234	0.64402	D	0.000009	D	0.83092	0.5179	M	0.80847	2.515	0.80722	D	1	B;B	0.22003	0.063;0.028	B;B	0.28709	0.063;0.093	T	0.81583	-0.0866	10	0.56958	D	0.05	-13.6737	16.7288	0.85430	0.0:1.0:0.0:0.0	.	155;274	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	260;274;145;202;155;182	ENSP00000428449:A260V;ENSP00000256398:A274V;ENSP00000439242:A145V;ENSP00000429180:A202V;ENSP00000445558:A155V;ENSP00000369711:A182V	ENSP00000256398:A274V	A	+	2	0	0	ELP3	28045755	28045755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.598000	0.87819	0.557000	0.71058	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	0	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.434631	1	0.170000	NM_018091			6	6		202	199	0		1	1		0	0	43	0		9.640445e-01	6.452061e-01	0	3	0	68	0	6	202
ZNF395	55893	broad.mit.edu	37	8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	142					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)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617																																						ENST00000344423.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(424-426)caG>caT		zinc finger protein 395							46.0	55.0	52.0					8																	28217156		2203	4300	6503	SO:0001583	missense	55893	0	0					g.chr8:28217156C>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.426G>T	chr8.hg19:g.28217156C>A	ENSP00000340494:p.Gln142His	0					ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	p.Q142H	NM_018660.2	NP_061130.1	0	0	0	1.973482	Q9H8N7	ZN395_HUMAN		3	557	-		Ovarian(32;2.06e-05)	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	1	1	hg19	c.426G>T	CCDS6067.1	1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460047	0.43736	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.4	3.45	0.39498	5.4	3.45	0.39498	.	0.582668	0.16352	N	0.218191	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	0.99999	D	0.54964	0.969	P	0.47162	0.54	T	0.66504	-0.5907	10	0.30078	T	0.28	-14.5634	7.2882	0.26352	0.2026:0.6261:0.1713:0.0	.	142	Q9H8N7	ZN395_HUMAN	H	142	ENSP00000340494:Q142H;ENSP00000429640:Q142H;ENSP00000428452:Q142H;ENSP00000427934:Q142H	ENSP00000340494:Q142H	Q	-	3	2	2	ZNF395	28273075	28273075	0.020000	0.18652	0.622000	0.29159	0.657000	0.38888	0.781000	0.26774	2.537000	0.85549	0.555000	0.69702	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				138	134		498	487	1		1	1		0	0	87	0		1	9.998954e-01	0	11	0	39	0	138	498
FZD3	7976	broad.mit.edu	37	8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	242					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)			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)		ATATTTTATGCAGTCTGCTAC	0.368																																						ENST00000240093.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(724-726)gCa>gTa		frizzled class receptor 3							99.0	101.0	101.0					8																	28385002		2202	4300	6502	SO:0001583	missense	7976	0	0					g.chr8:28385002C>T	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.725C>T	chr8.hg19:g.28385002C>T	ENSP00000240093:p.Ala242Val	0					FZD3_ENST00000537916.1_Missense_Mutation_p.A242V|RNA5SP259_ENST00000365541.1_RNA	p.A242V	NM_017412.3	NP_059108.1	0	0	0	1.973482	Q9NPG1	FZD3_HUMAN		5	1203	+		Ovarian(32;2.06e-05)	A8K615	Missense_Mutation	SNP	ENST00000240093.3	1	1	hg19	c.725C>T	CCDS6069.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480194	0.84747	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91908	0.5537	10	0.87932	D	0	.	17.8224	0.88654	0.0:1.0:0.0:0.0	.	242	Q9NPG1	FZD3_HUMAN	V	242	ENSP00000437489:A242V;ENSP00000240093:A242V	ENSP00000240093:A242V	A	+	2	0	0	FZD3	28440921	28440921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_145866			94	94		494	486	1		1	1		0	0	101	0		1	9.234425e-01	0	8	0	17	0	94	494
FZD3	7976	broad.mit.edu	37	8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	355					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)			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)		AATTGAAGGTGACAATATTAG	0.443																																						ENST00000240093.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1063-1065)Gac>Aac		frizzled class receptor 3							148.0	145.0	146.0					8																	28385340		2203	4300	6503	SO:0001583	missense	7976	0	0					g.chr8:28385340G>A	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.1063G>A	chr8.hg19:g.28385340G>A	ENSP00000240093:p.Asp355Asn	0					FZD3_ENST00000537916.1_Missense_Mutation_p.D355N|RNA5SP259_ENST00000365541.1_RNA	p.D355N	NM_017412.3	NP_059108.1	0	0	0	1.973482	Q9NPG1	FZD3_HUMAN		5	1541	+		Ovarian(32;2.06e-05)	A8K615	Missense_Mutation	SNP	ENST00000240093.3	1	1	hg19	c.1063G>A	CCDS6069.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558480	0.86231	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93866	0.7158	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	355	Q9NPG1	FZD3_HUMAN	N	355	ENSP00000437489:D355N;ENSP00000240093:D355N	ENSP00000240093:D355N	D	+	1	0	0	FZD3	28441259	28441259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.371000	0.80710	0.563000	0.77884	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-20.000000	1	0.170000	NM_145866			93	88		365	354	1		1	0		0	0	98	0		1	2.720511e-01	0	0	0	5	0	93	365
EXTL3	2137	broad.mit.edu	37	8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	125					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)			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)		AGAACGCCAAGCAGGACCTGC	0.567																																						ENST00000220562.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				36						c.(373-375)aaG>aaT		exostosin-like glycosyltransferase 3							46.0	40.0	42.0					8																	28573951		2203	4300	6503	SO:0001583	missense	2137	0	0					g.chr8:28573951G>T	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.375G>T	chr8.hg19:g.28573951G>T	ENSP00000220562:p.Lys125Asn	0					EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.K125N	NM_001440.2	NP_001431.1	0	0	0	1.973482	O43909	EXTL3_HUMAN		3	1277	+		Ovarian(32;0.069)	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	1	1	hg19	c.375G>T	CCDS6070.1	1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699654	0.48307	.	.	ENSG00000012232	ENST00000220562	D	0.95482	-3.72	5.05	3.97	0.46021	5.05	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.36672	1.1	0.54753	D	0.999988	D	0.54047	0.964	P	0.46940	0.532	D	0.91931	0.5555	9	.	.	.	-27.5715	14.3478	0.66678	0.0844:0.0:0.9156:0.0	.	125	O43909	EXTL3_HUMAN	N	125	ENSP00000220562:K125N	.	K	+	3	2	2	EXTL3	28629870	28629870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.567000	0.60850	2.352000	0.79861	0.491000	0.48974	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_001440			29	29		161	153	1		1	1		0	0	24	0		1	9.999507e-01	0	25	0	65	0	29	161
EXTL3	2137	broad.mit.edu	37	8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	178					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)			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)		CGGGGCTGCCGGCTACACAAC	0.597																																						ENST00000220562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(532-534)cGg>cAg		exostosin-like glycosyltransferase 3							72.0	76.0	75.0					8																	28574109		2203	4300	6503	SO:0001583	missense	2137	1	121412	35				g.chr8:28574109G>A	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.533G>A	chr8.hg19:g.28574109G>A	ENSP00000220562:p.Arg178Gln	0					EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.R178Q	NM_001440.2	NP_001431.1	0	0	0	1.973482	O43909	EXTL3_HUMAN		3	1435	+		Ovarian(32;0.069)	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	1	1	hg19	c.533G>A	CCDS6070.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546182	0.45383	.	.	ENSG00000012232	ENST00000220562	D	0.95788	-3.81	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	D	0.91307	0.7259	L	0.27053	0.805	0.58432	D	0.999997	B	0.19200	0.034	B	0.08055	0.003	D	0.87603	0.2498	9	.	.	.	-24.3996	18.403	0.90523	0.0:0.0:1.0:0.0	.	178	O43909	EXTL3_HUMAN	Q	178	ENSP00000220562:R178Q	.	R	+	2	0	0	EXTL3	28630028	28630028	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.624000	0.98398	2.348000	0.79779	0.485000	0.47835	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-3.183945	1	0.170000	NM_001440			88	87		413	407	1		1	1		0	0	84	0		1	9.999805e-01	0	16	0	59	0	88	413
EXTL3	2137	broad.mit.edu	37	8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181					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)			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)		CCGGCTACACAACTGCTTTGA	0.597																																						ENST00000220562.4	1.000000	0.930000	1	9.900000e-01	0.990000	0.996503	0.990000	1.000000																										0				36						c.(541-543)Aac>Gac		exostosin-like glycosyltransferase 3							82.0	84.0	83.0					8																	28574117		2203	4300	6503	SO:0001583	missense	2137	0	0					g.chr8:28574117A>G	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.541A>G	chr8.hg19:g.28574117A>G	ENSP00000220562:p.Asn181Asp	0					EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.N181D	NM_001440.2	NP_001431.1	0	0	0	1.973482	O43909	EXTL3_HUMAN		3	1443	+		Ovarian(32;0.069)	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	1	1	hg19	c.541A>G	CCDS6070.1	1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484444	0.26598	.	.	ENSG00000012232	ENST00000220562	D	0.95238	-3.65	5.02	3.87	0.44632	5.02	3.87	0.44632	.	0.157871	0.56097	D	0.000027	D	0.89663	0.6780	L	0.39898	1.24	0.38076	D	0.936535	B	0.14012	0.009	B	0.12156	0.007	D	0.85933	0.1453	9	.	.	.	-21.2576	10.1276	0.42658	0.9215:0.0:0.0785:0.0	.	181	O43909	EXTL3_HUMAN	D	181	ENSP00000220562:N181D	.	N	+	1	0	0	EXTL3	28630036	28630036	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.526000	0.53509	1.903000	0.55091	0.397000	0.26171	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	0		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_001440			52	51		437	431	1		1	1		0	0	88	0		1	9.978253e-01	0	2	0	77	0	52	437
EXTL3	2137	broad.mit.edu	37	8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	513					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)			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)		GCGGCAAGGCCGCTTTCTCTG	0.562																																						ENST00000220562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1537-1539)Cgc>Tgc		exostosin-like glycosyltransferase 3							57.0	58.0	58.0					8																	28575113		2203	4300	6503	SO:0001583	missense	2137	0	0					g.chr8:28575113C>T	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.1537C>T	chr8.hg19:g.28575113C>T	ENSP00000220562:p.Arg513Cys	0					EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C|EXTL3_ENST00000519886.1_Intron	p.R513C	NM_001440.2	NP_001431.1	0	0	0	1.973482	O43909	EXTL3_HUMAN		3	2439	+		Ovarian(32;0.069)	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	1	1	hg19	c.1537C>T	CCDS6070.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138105	0.77775	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96300	-3.53;-3.97	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-23.0606	20.0522	0.97631	0.0:1.0:0.0:0.0	.	513	O43909	EXTL3_HUMAN	C	129;513	ENSP00000428691:R129C;ENSP00000220562:R513C	ENSP00000220562:R513C	R	+	1	0	0	EXTL3	28631032	28631032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.737000	0.93849	0.563000	0.77884	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_001440			84	83		345	342	1		1	1		0	0	75	0		1	9.999537e-01	0	17	0	44	0	84	345
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713					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)			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)		TGACATTGGCGTCCCCATCAT	0.463																																						ENST00000220562.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2137-2139)Gtc>Atc		exostosin-like glycosyltransferase 3							94.0	94.0	94.0					8																	28575713		2203	4300	6503	SO:0001583	missense	2137	1	121412	29				g.chr8:28575713G>A	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.2137G>A	chr8.hg19:g.28575713G>A	ENSP00000220562:p.Val713Ile	0					EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I|EXTL3_ENST00000519886.1_Intron	p.V713I	NM_001440.2	NP_001431.1	0	0	0	1.973482	O43909	EXTL3_HUMAN		3	3039	+		Ovarian(32;0.069)	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	1	1	hg19	c.2137G>A	CCDS6070.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.449679|2.449679	0.43531|0.43531	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562	.|D;D	.|0.86694	.|-2.16;-2.16	5.91|5.91	5.91|5.91	0.95273|0.95273	5.91|5.91	5.91|5.91	0.95273|0.95273	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.065273	.|0.64402	.|D	.|0.000008	D|D	0.86797|0.86797	0.6019|0.6019	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.53312	.|0.959	.|P	.|0.44696	.|0.458	D|D	0.85714|0.85714	0.1321|0.1321	5|10	.|0.38643	.|T	.|0.18	-40.094|-40.094	20.2946|20.2946	0.98546|0.98546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|713	.|O43909	.|EXTL3_HUMAN	H|I	46|329;713	.|ENSP00000428691:V329I;ENSP00000220562:V713I	.|ENSP00000220562:V713I	R|V	+|+	2|1	0|0	0|0	EXTL3|EXTL3	28631632|28631632	28631632|28631632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	6.074000|6.074000	0.71253|0.71253	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	CGT|GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_001440			83	82		317	314	1		1	1		0	0	62	0		1	1	0	19	0	79	0	83	317
KIF13B	23303	broad.mit.edu	37	8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1206					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)			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)		CAAAGAACTCCTCTTCTTCTT	0.458																																						ENST00000524189.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				28						c.(3616-3618)gaG>gaT		kinesin family member 13B							171.0	172.0	172.0					8																	28976427		1941	4155	6096	SO:0001583	missense	23303	0	0					g.chr8:28976427C>A	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.3618G>T	chr8.hg19:g.28976427C>A	ENSP00000427900:p.Glu1206Asp	0					CTD-2647L4.1_ENST00000523661.1_RNA	p.E1206D	NM_015254.3	NP_056069.2	0	0	0	1.973482	Q9NQT8	KI13B_HUMAN		30	3656	-		Ovarian(32;0.000536)	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	1	1	hg19	c.3618G>T	CCDS55217.1	1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413266	0.04799	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.89	-6.99	0.01605	4.89	-6.99	0.01605	.	0.258306	0.44097	N	0.000483	T	0.35128	0.0921	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.09843	T	0.71	.	2.2038	0.03931	0.3404:0.2516:0.3025:0.1054	.	1206	F8VPJ2	.	D	1206	ENSP00000427900:E1206D	ENSP00000427900:E1206D	E	-	3	2	2	KIF13B	29032346	29032346	0.001000	0.12720	0.900000	0.35374	0.902000	0.53008	-1.583000	0.02115	-1.236000	0.02542	-0.471000	0.05019	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	0	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000				74	73		475	457	1		1	1		0	0	123	0		1	9.999998e-01	0	54	0	87	0	74	475
KIF13B	23303	broad.mit.edu	37	8	28980978	28980978	+	Silent	SNP	C	C	T	rs192162158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28980978C>T	ENST00000524189.1	-	28	3422	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1128					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)			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)		CCAGAAGCTGCGCTTCACGGT	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.0					ENST00000524189.1	0.320000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.208072	0.190000	0.190000																										0				28						c.(3382-3384)gcG>gcA		kinesin family member 13B		C		14,3904		0,14,1945	140.0	138.0	138.0		3384	-4.6	0.4	8		138	0,8316		0,0,4158	no	coding-synonymous	KIF13B	NM_015254.3		0,14,6103	TT,TC,CC		0.0,0.3573,0.1144		1128/1827	28980978	14,12220	1959	4158	6117	SO:0001819	synonymous_variant	23303	37	120870	50				g.chr8:28980978C>T	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.3384G>A	chr8.hg19:g.28980978C>T		0					CTD-2647L4.1_ENST00000523661.1_RNA	p.A1128A	NM_015254.3	NP_056069.2	0	0	0	1.973482	Q9NQT8	KI13B_HUMAN		28	3422	-		Ovarian(32;0.000536)	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	0	1	hg19	c.3384G>A	CCDS55217.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	0	0	0		2	2	2	0		0	0	121		121	119	1	2.060000	-2.315569	0	0.170000				12	12		707	696	0		1	1		0	0	121	0		9.990243e-01	7.622192e-01	0	4	0	159	0	12	707
KIF13B	23303	broad.mit.edu	37	8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	665					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)			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)		TTAAGCGTTGCTGAGCGCTGG	0.552																																						ENST00000524189.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999902	0.990000	1.000000																										0				28						c.(1993-1995)caG>caT		kinesin family member 13B							38.0	36.0	37.0					8																	29004938		1950	4164	6114	SO:0001583	missense	23303	0	0					g.chr8:29004938C>A	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.1995G>T	chr8.hg19:g.29004938C>A	ENSP00000427900:p.Gln665His	0					KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	p.Q665H	NM_015254.3	NP_056069.2	0	0	0	1.973482	Q9NQT8	KI13B_HUMAN		17	2033	-		Ovarian(32;0.000536)	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	0	1	hg19	c.1995G>T	CCDS55217.1	1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391408	0.25118	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72051	-0.62;-0.62	5.51	2.53	0.30540	5.51	2.53	0.30540	.	0.055724	0.64402	D	0.000001	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	B;B	0.24092	0.097;0.045	B;B	0.23852	0.017;0.049	T	0.49995	-0.8879	10	0.49607	T	0.09	.	9.5339	0.39211	0.0:0.6796:0.0:0.3204	.	665;665	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	H	665	ENSP00000427900:Q665H;ENSP00000429201:Q665H	ENSP00000429201:Q665H	Q	-	3	2	2	KIF13B	29060857	29060857	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.240000	0.32731	0.214000	0.20742	0.563000	0.77884	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000				18	18		66	64	1		1	1		0	0	10	0		9.999899e-01	1	0	73	0	73	0	18	66
KIF13B	23303	broad.mit.edu	37	8	29033584	29033584	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B						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)			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)		AACAAACTTACTTTGAGCAGC	0.413																																						ENST00000524189.1	1.000000	0.320000	1	5.000000e-01	0.740000	0.743172	0.740000	1.000000																										0				28						c.e10+1		kinesin family member 13B							71.0	64.0	66.0					8																	29033584		1876	4100	5976	SO:0001630	splice_region_variant	23303	0	0					g.chr8:29033584C>T	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.945+1G>A	chr8.hg19:g.29033584C>T		0					KIF13B_ENST00000521515.1_Splice_Site		NM_015254.3	NP_056069.2	0	0	0	1.973482	Q9NQT8	KI13B_HUMAN		10	984	-		Ovarian(32;0.000536)	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Splice_Site	SNP	ENST00000524189.1	0	1	hg19		CCDS55217.1	0	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858644	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KIF13B	29089503	29089503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.588000	0.82629	2.763000	0.94921	0.563000	0.77884	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-10.617240	1	0.170000		Intron		6	6		90	89	0		1	0		0	0	19	0		9.654545e-01	0	0	0	0	1	0	6	90
SARAF	51669	broad.mit.edu	37	8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		303					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483																																						ENST00000256255.6	1.000000	0.950000	1	9.900000e-01	0.990000	0.997280	0.990000	1.000000																										0				14						c.(907-909)tgG>tgT									133.0	126.0	128.0					8																	29923589		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr8:29923589C>A																												ENST00000256255.6:c.909G>T	chr8.hg19:g.29923589C>A	ENSP00000256255:p.Trp303Cys	0					TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C	p.W303C	NM_016127.4	NP_057211.4	0	0	0	1.973482	Q96BY9	SARAF_HUMAN		5	1166	-			B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	1	1	hg19	c.909G>T	CCDS6074.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.95|13.95|13.95	2.389019|2.389019|2.389019	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273	.|.|T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	.|.|.	.|.|0.366629	.|.|0.29799	.|.|N	.|.|0.011163	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	M|M|M	0.85859|0.85859|0.85859	2.78|2.78|2.78	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.76494	.|.|0.999;0.998	.|.|D;D	.|.|0.69824	.|.|0.966;0.947	.|T|T	.|0.72763|0.72763	.|-0.4195|-0.4195	.|5|10	.|.|0.59425	.|.|D	.|.|0.04	-19.4179|-19.4179|-19.4179	10.793|10.793|10.793	0.46445|0.46445|0.46445	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.|.	.|.|303;303	.|.|B3KQQ4;Q96BY9	.|.|.;TMM66_HUMAN	X|V|C	173|303|303;131;267;131	.|.|ENSP00000256255:W303C;ENSP00000441351:W131C;ENSP00000441723:W131C	.|.|ENSP00000256255:W303C	E|G|W	-|-|-	1|2|3	0|0|0	0|0|0	TMEM66|TMEM66|TMEM66	30043131|30043131|30043131	30043131|30043131|30043131	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.864000|0.864000|0.864000	0.33941|0.33941|0.33941	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	2.362000|2.362000|2.362000	0.44169|0.44169|0.44169	1.441000|1.441000|1.441000	0.47550|0.47550|0.47550	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4	1	0	1		2	2	2	0		0	0	89		89	85	1	2.060000	-16.853540	1	0.170000				46	45		372	364	1		1	1		0	0	89	0		1	1	0	163	0	1803	0	46	372
UBXN8	7993	broad.mit.edu	37	8	30623764	30623764	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	ENST00000519246.1	+	0	865							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						CTGGATGACGAGAATTGGGTA	0.438																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999935	0.990000	1.000000																										0				3								UBX domain protein 8							79.0	75.0	76.0					8																	30623764		1872	4106	5978			7993	0	0					g.chr8:30623764A>G	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			chr8.hg19:g.30623764A>G		0									0	0	0	1.973482	O00124	UBXN8_HUMAN		0	865	+			Q7Z6F2	RNA	SNP	ENST00000519246.1	1	1	hg19			1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	0	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	NM_005671			36	36		210	207	0		1	1		0	0	42	0		1	9.988319e-01	0	15	0	48	0	36	210
PPP2CB	5516	broad.mit.edu	37	8	30655229	30655229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	118					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.H118H(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)	GTCGGCTTTCGTGATTTCCTC	0.363																																						ENST00000221138.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										1	Substitution - coding silent(1)	p.H118H(1)	lung(1)	9						c.(352-354)caC>caT		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						85.0	75.0	79.0					8																	30655229		2203	4300	6503	SO:0001819	synonymous_variant	5516	3	121410	36				g.chr8:30655229G>A		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.354C>T	chr8.hg19:g.30655229G>A		0					PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	p.H118H	NM_001009552.1	NP_001009552.1	0	0	0	1.973482	P62714	PP2AB_HUMAN		3	804	-			D3DSV4|P11082|Q6FHK5	Silent	SNP	ENST00000221138.4	1	1	hg19	c.354C>T	CCDS6079.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-19.635740	1	0.170000	NM_001009552			38	37		206	201	1		1	1		0	0	57	0		1	1	0	151	0	554	0	38	206
TEX15	56154	broad.mit.edu	37	8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2783					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)					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)		GATGAAAGGATTCTTGGTGCC	0.289																																						ENST00000256246.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				138						c.(8347-8349)gaA>gaC		testis expressed 15							37.0	39.0	38.0					8																	30690823		2203	4297	6500	SO:0001583	missense	56154	0	0					g.chr8:30690823T>G	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.8349A>C	chr8.hg19:g.30690823T>G	ENSP00000256246:p.Glu2783Asp	0						p.E2783D	NM_031271.3	NP_112561.2	0	0	0	1.973482	Q9BXT5	TEX15_HUMAN		4	8423	-				Missense_Mutation	SNP	ENST00000256246.2	1	1	hg19	c.8349A>C	CCDS6080.1	1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024091	0.08006	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.72	3.28	0.37604	5.72	3.28	0.37604	.	1.270990	0.05549	N	0.567080	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.36841	-0.9731	10	0.87932	D	0	.	4.9207	0.13869	0.1687:0.0877:0.0:0.7436	.	2783	Q9BXT5	TEX15_HUMAN	D	2783	ENSP00000256246:E2783D	ENSP00000256246:E2783D	E	-	3	2	2	TEX15	30810365	30810365	0.015000	0.18098	0.063000	0.19743	0.108000	0.19459	1.003000	0.29809	0.495000	0.27882	0.528000	0.53228	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	0		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				23	22		102	100	1		1	0		0	0	27	0		9.999996e-01	0	0	1	0	0	0	23	102
TEX15	56154	broad.mit.edu	37	8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2396					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)					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)		TAAAAGTGAGCCAGGTAGTGA	0.388																																						ENST00000256246.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(7186-7188)gGc>gTc		testis expressed 15							216.0	215.0	215.0					8																	30695464		2203	4300	6503	SO:0001583	missense	56154	0	0					g.chr8:30695464C>A	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.7187G>T	chr8.hg19:g.30695464C>A	ENSP00000256246:p.Gly2396Val	0						p.G2396V	NM_031271.3	NP_112561.2	0	0	0	1.973482	Q9BXT5	TEX15_HUMAN		3	7261	-				Missense_Mutation	SNP	ENST00000256246.2	1	1	hg19	c.7187G>T	CCDS6080.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396149	0.62177	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	4.4	-3.86	0.04230	4.4	-3.86	0.04230	.	1.595900	0.03684	N	0.245973	T	0.10937	0.0267	L	0.44542	1.39	0.22858	N	0.998647	B	0.26809	0.16	B	0.25291	0.059	T	0.30446	-0.9978	10	0.87932	D	0	.	1.8012	0.03071	0.1337:0.3029:0.1313:0.4321	.	2396	Q9BXT5	TEX15_HUMAN	V	2396	ENSP00000256246:G2396V	ENSP00000256246:G2396V	G	-	2	0	0	TEX15	30815006	30815006	0.000000	0.05858	0.001000	0.08648	0.533000	0.34776	-1.045000	0.03528	-1.018000	0.03363	0.462000	0.41574	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1		2	2	2	0		0	0	202		202	200	1	2.060000	-20.000000	1	0.170000				215	211		926	906	1		1	0		0	0	202	0		1	0	0	0	0	1	0	215	926
TEX15	56154	broad.mit.edu	37	8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A	rs372186254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2119					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)					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)		AACATCTGTTGAGTTATCTTT	0.368																																						ENST00000256246.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(6355-6357)tCa>tTa		testis expressed 15							56.0	58.0	57.0					8																	30700178		2203	4299	6502	SO:0001583	missense	56154	0	0					g.chr8:30700178G>A	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.6356C>T	chr8.hg19:g.30700178G>A	ENSP00000256246:p.Ser2119Leu	0						p.S2119L	NM_031271.3	NP_112561.2	0	0	0	1.973482	Q9BXT5	TEX15_HUMAN		1	6430	-				Missense_Mutation	SNP	ENST00000256246.2	1	1	hg19	c.6356C>T	CCDS6080.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461201	0.26248	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	4.78	0.61160	5.68	4.78	0.61160	.	0.545093	0.16589	N	0.207875	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	B	0.32365	0.367	B	0.30316	0.114	T	0.23940	-1.0174	10	0.87932	D	0	.	7.0698	0.25171	0.0866:0.0:0.7338:0.1796	.	2119	Q9BXT5	TEX15_HUMAN	L	2119	ENSP00000256246:S2119L	ENSP00000256246:S2119L	S	-	2	0	0	TEX15	30819720	30819720	0.998000	0.40836	0.017000	0.16124	0.967000	0.64934	3.336000	0.52113	1.336000	0.45506	0.591000	0.81541	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.302120	1	0.170000				47	45		221	215	1		1			0	0	57	0		1	0	0	0	0	0	0	47	221
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535					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)					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)		TTTGTTAAGCGGATTAGAAAC	0.353																																						ENST00000256246.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				138						c.(4603-4605)cCg>cTg		testis expressed 15							179.0	184.0	182.0					8																	30701930		2203	4300	6503	SO:0001583	missense	56154	3	121406	36				g.chr8:30701930G>A	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.4604C>T	chr8.hg19:g.30701930G>A	ENSP00000256246:p.Pro1535Leu	0						p.P1535L	NM_031271.3	NP_112561.2	0	0	0	1.973482	Q9BXT5	TEX15_HUMAN		1	4678	-				Missense_Mutation	SNP	ENST00000256246.2	1	1	hg19	c.4604C>T	CCDS6080.1	1	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337538	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.77	-1.07	0.09968	5.77	-1.07	0.09968	.	1.103820	0.06875	N	0.801452	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.41858	-0.9485	10	0.87932	D	0	.	1.8159	0.03100	0.123:0.1577:0.349:0.3703	.	1535	Q9BXT5	TEX15_HUMAN	L	1535	ENSP00000256246:P1535L	ENSP00000256246:P1535L	P	-	2	0	0	TEX15	30821472	30821472	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.141000	0.10327	-0.405000	0.07599	-1.085000	0.02201	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1		2	2	2	0		0	0	171		171	169	1	2.060000	-3.227544	1	0.170000				187	185		894	881	1		1	0		0	0	171	0		1	0	0	1	0	0	0	187	894
TEX15	56154	broad.mit.edu	37	8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A	rs201946995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	355					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)					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)		AATGGCTAAACTTGTATGAAT	0.378																																						ENST00000256246.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				138						c.(1063-1065)aGt>aTt		testis expressed 15							70.0	66.0	67.0					8																	30705470		2203	4300	6503	SO:0001583	missense	56154	0	0					g.chr8:30705470C>A	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.1064G>T	chr8.hg19:g.30705470C>A	ENSP00000256246:p.Ser355Ile	0					TEX15_ENST00000523186.1_5'Flank	p.S355I	NM_031271.3	NP_112561.2	0	0	0	1.973482	Q9BXT5	TEX15_HUMAN		1	1138	-				Missense_Mutation	SNP	ENST00000256246.2	1	1	hg19	c.1064G>T	CCDS6080.1	1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670934	0.14776	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.46	-2.5	0.06384	5.46	-2.5	0.06384	.	0.558840	0.18195	N	0.148712	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	P	0.48400	0.576	T	0.18366	-1.0339	10	0.87932	D	0	.	12.1096	0.53831	0.0:0.3605:0.0:0.6395	.	355	Q9BXT5	TEX15_HUMAN	I	355	ENSP00000256246:S355I	ENSP00000256246:S355I	S	-	2	0	0	TEX15	30825012	30825012	0.005000	0.15991	0.005000	0.12908	0.054000	0.15201	-0.517000	0.06275	-0.457000	0.07033	-1.000000	0.02509	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-4.057285	1	0.170000				33	32		163	161	1		1			0	0	40	0		1	0	0	0	0	0	0	33	163
NRG1	3084	broad.mit.edu	37	8	32453476	32453476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000405005.3	+	2	231	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L			Q02297	NRG1_HUMAN	neuregulin 1	77	Ig-like C2-type.				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)			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)		GGAATGAATTGAATCGAAAAA	0.393																																						ENST00000405005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(229-231)ttG>ttA		neuregulin 1							107.0	116.0	113.0					8																	32453476		2203	4300	6503	SO:0001819	synonymous_variant	3084	0	0					g.chr8:32453476G>A	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.231G>A	chr8.hg19:g.32453476G>A		0					NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000356819.4_Silent_p.L77L	p.L77L			0	0	0	1.973482	Q02297	NRG1_HUMAN		2	231	+		Breast(100;0.203)	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	Silent	SNP	ENST00000405005.3	1	1	hg19	c.231G>A	CCDS6085.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000				88	83		412	401	0		1	0		0	0	120	0		1	2.168585e-01	0	0	0	5	0	88	412
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T	rs368973399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000405005.3	+	12	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M			Q02297	NRG1_HUMAN	neuregulin 1	485					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)			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)		ACACCACCAAGGCTGCGGGAG	0.577																																						ENST00000405005.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1453-1455)aGg>aTg		neuregulin 1		G	MET/ARG,,MET/ARG,MET/ARG,,MET/ARG,MET/ARG,,MET/ARG	0,4406		0,0,2203	139.0	108.0	119.0		1355,,1406,1304,,1469,1445,,1454	5.0	0.1	8		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense	NRG1	NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3	91,,91,91,,91,91,,91	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,probably-damaging	452/608,,469/625,435/591,,490/646,482/638,,485/641	32621451	1,13005	2203	4300	6503	SO:0001583	missense	3084	2	121410	35				g.chr8:32621451G>T	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.1454G>T	chr8.hg19:g.32621451G>T	ENSP00000384620:p.Arg485Met	0					NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M	p.R485M			0	0	0	1.973482	Q02297	NRG1_HUMAN		12	1454	+		Breast(100;0.203)	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	1	1	hg19	c.1454G>T	CCDS6085.1	1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.88	5.01	0.66863	5.88	5.01	0.66863	Neuregulin 1-related, C-terminal (1);	0.240552	0.40818	N	0.001001	T	0.70011	0.3175	L	0.47716	1.5	0.09310	N	0.999999	D;P;P;P;P;P;P	0.53462	0.96;0.81;0.744;0.547;0.699;0.899;0.699	P;P;P;B;P;P;P	0.62298	0.748;0.632;0.797;0.24;0.632;0.9;0.694	T	0.63024	-0.6729	10	0.46703	T	0.11	-17.5206	12.7104	0.57086	0.1356:0.0:0.8644:0.0	.	328;456;490;493;482;485;490	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	452;435;558;493;490;485;456;482;485;328	ENSP00000430053:R452M;ENSP00000429582:R435M;ENSP00000429067:R558M;ENSP00000343395:R493M;ENSP00000349275:R490M;ENSP00000287840:R485M;ENSP00000287845:R456M;ENSP00000287842:R482M;ENSP00000384620:R485M;ENSP00000439276:R328M	ENSP00000287840:R485M	R	+	2	0	0	NRG1	32740993	32740993	0.565000	0.26610	0.063000	0.19743	0.024000	0.10985	2.250000	0.43178	1.503000	0.48686	0.557000	0.71058	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	0		2	2	2	0		0	0	88		88	86	1	2.060000	-20.000000	1	0.170000				61	59		297	290	1		1	0		0	0	88	0		1	7.953888e-02	0	0	0	3	0	61	297
NRG1	3084	broad.mit.edu	37	8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000405005.3	+	12	1529	c.1529A>G	c.(1528-1530)aAc>aGc	p.N510S	NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S			Q02297	NRG1_HUMAN	neuregulin 1	510					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)			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)		CATGACAGTAACAGCCTCCCT	0.547																																						ENST00000405005.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999772	0.990000	1.000000																										0				39						c.(1528-1530)aAc>aGc		neuregulin 1							94.0	76.0	82.0					8																	32621526		2203	4300	6503	SO:0001583	missense	3084	0	0					g.chr8:32621526A>G	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.1529A>G	chr8.hg19:g.32621526A>G	ENSP00000384620:p.Asn510Ser	0					NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S	p.N510S			0	0	0	1.973482	Q02297	NRG1_HUMAN		12	1529	+		Breast(100;0.203)	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	1	1	hg19	c.1529A>G	CCDS6085.1	1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459402	0.04508	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.75	-2.42	0.06542	5.75	-2.42	0.06542	Neuregulin 1-related, C-terminal (1);	0.466636	0.25130	N	0.032920	T	0.24547	0.0595	N	0.19112	0.55	0.27175	N	0.960821	B;B;B;B;B;B;B	0.13594	0.002;0.008;0.005;0.0;0.008;0.002;0.004	B;B;B;B;B;B;B	0.23150	0.007;0.009;0.029;0.001;0.017;0.044;0.017	T	0.31833	-0.9929	10	0.08837	T	0.75	-4.7042	9.1717	0.37086	0.4312:0.117:0.4519:0.0	.	353;481;515;518;507;510;515	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	477;460;583;518;515;510;481;507;510;353	ENSP00000430053:N477S;ENSP00000429582:N460S;ENSP00000429067:N583S;ENSP00000343395:N518S;ENSP00000349275:N515S;ENSP00000287840:N510S;ENSP00000287845:N481S;ENSP00000287842:N507S;ENSP00000384620:N510S;ENSP00000439276:N353S	ENSP00000287840:N510S	N	+	2	0	0	NRG1	32741068	32741068	1.000000	0.71417	0.525000	0.27900	0.036000	0.12997	0.832000	0.27490	-0.673000	0.05259	-0.475000	0.04921	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	0		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				38	37		247	241	1		1	0		0	0	52	0		1	5.126513e-02	0	0	0	3	0	38	247
MAK16	84549	broad.mit.edu	37	8	33356000	33356000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	252						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448																																						ENST00000360128.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(754-756)tcC>tcT		MAK16 homolog (S. cerevisiae)							79.0	76.0	77.0					8																	33356000		2203	4300	6503	SO:0001819	synonymous_variant	84549	1	121412	31				g.chr8:33356000C>T	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.756C>T	chr8.hg19:g.33356000C>T		0					TTI2_ENST00000519356.1_Intron	p.S252S	NM_032509.3	NP_115898.2	0	0	0	1.973482	Q9BXY0	MAK16_HUMAN		10	1213	+			B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	1	1	hg19	c.756C>T	CCDS6089.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-3.023750	1	0.170000	NM_032509			56	55		254	245	1		1	1		0	0	83	0		1	9.999173e-01	0	25	0	41	0	56	254
RNF122	79845	broad.mit.edu	37	8	33406322	33406322	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	139						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517																																						ENST00000256257.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(415-417)agT>agC		ring finger protein 122							260.0	221.0	235.0					8																	33406322		2203	4300	6503	SO:0001819	synonymous_variant	79845	2	121412	35				g.chr8:33406322A>G	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.417T>C	chr8.hg19:g.33406322A>G		0						p.S139S	NM_024787.2	NP_079063.2	0	0	0	1.973482	Q9H9V4	RN122_HUMAN		6	818	-			Q52LK3	Silent	SNP	ENST00000256257.1	1	1	hg19	c.417T>C	CCDS6091.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	1	0	1		2	2	2	0		0	0	167		167	167	1	2.060000	-20.000000	1	0.170000	NM_024787			116	115		572	553	1		1	1		0	0	167	0		1	9.995445e-01	0	8	0	49	0	116	572
DUSP26	78986	broad.mit.edu	37	8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	13					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542																																						ENST00000256261.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(37-39)tTt>tGt		dual specificity phosphatase 26 (putative)							58.0	58.0	58.0					8																	33454996		2203	4300	6503	SO:0001583	missense	78986	0	0					g.chr8:33454996A>C	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.38T>G	chr8.hg19:g.33454996A>C	ENSP00000256261:p.Phe13Cys	0					DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	p.F13C	NM_024025.1	NP_076930.1	0	0	0	1.973482	Q9BV47	DUS26_HUMAN		2	555	-			D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	1	1	hg19	c.38T>G	CCDS6092.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204645	0.79127	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.21361	3.82;3.82;2.01	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.360837	0.27744	N	0.018029	T	0.34221	0.0890	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.74674	0.984	T	0.03453	-1.1035	10	0.40728	T	0.16	-20.8967	13.8287	0.63366	1.0:0.0:0.0:0.0	.	13	Q9BV47	DUS26_HUMAN	C	13	ENSP00000256261:F13C;ENSP00000429176:F13C;ENSP00000430922:F13C	ENSP00000256261:F13C	F	-	2	0	0	DUSP26	33574538	33574538	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.292000	0.89930	2.094000	0.63399	0.459000	0.35465	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000	NM_024025			44	44		196	191	1		1	0		0	0	72	0		1	3.836458e-01	0	0	0	7	0	44	196
UNC5D	137970	broad.mit.edu	37	8	35406991	35406991	+	Silent	SNP	C	C	T	rs77010935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000404895.2	+	2	613	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000287272.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000420357.1_Silent_p.N95N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	95	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		TCCATCAGAACGAGCACGTCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18834	0.0		0.001	False		,,,				2504	0.0					ENST00000404895.2	1.000000	0.870000	1	9.900000e-01	0.990000	0.992615	0.990000	1.000000																										0				112						c.(283-285)aaC>aaT		unc-5 homolog D (C. elegans)		C		5,4401	9.9+/-24.2	0,5,2198	52.0	47.0	48.0		285	0.6	1.0	8	dbSNP_132	48	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UNC5D	NM_080872.2		0,14,6489	TT,TC,CC		0.1047,0.1135,0.1076		95/954	35406991	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	137970	184	121402	50				g.chr8:35406991C>T	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.285C>T	chr8.hg19:g.35406991C>T		0					UNC5D_ENST00000287272.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000420357.1_Silent_p.N95N	p.N95N	NM_080872.2	NP_543148.2	0	0	0	1.973482	Q6UXZ4	UNC5D_HUMAN		2	613	+			Q8WYP7	Silent	SNP	ENST00000404895.2	1	1	hg19	c.285C>T	CCDS6093.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-4.562726	1	0.170000				18	18		129	126	1		1			0	0	33	0		9.999852e-01	0	0	0	0	0	0	18	129
UNC5D	137970	broad.mit.edu	37	8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000404895.2	+	3	740	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000287272.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	138	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		CCAGTGTGTGGCGTGGAGCCA	0.542																																						ENST00000404895.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				112						c.(412-414)Gcg>Acg		unc-5 homolog D (C. elegans)							144.0	140.0	141.0					8																	35425705		2203	4300	6503	SO:0001583	missense	137970	0	0					g.chr8:35425705G>A	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.412G>A	chr8.hg19:g.35425705G>A	ENSP00000385143:p.Ala138Thr	0					UNC5D_ENST00000287272.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T	p.A138T	NM_080872.2	NP_543148.2	0	0	0	1.973482	Q6UXZ4	UNC5D_HUMAN		3	740	+			Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	1	1	hg19	c.412G>A	CCDS6093.2	1	.	.	.	.	.	.	.	.	.	.	G	35	5.432833	0.96150	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84579	0.0660	10	0.87932	D	0	-14.5974	18.7938	0.91985	0.0:0.0:1.0:0.0	.	133;138	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	138;138;138;138;133	ENSP00000385143:A138T;ENSP00000392739:A138T;ENSP00000287272:A138T;ENSP00000412652:A138T;ENSP00000394303:A133T	ENSP00000287272:A138T	A	+	1	0	0	UNC5D	35545247	35545247	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000				108	107		553	547	1		1	0		0	0	128	0		1	0	0	0	0	1	0	108	553
UNC5D	137970	broad.mit.edu	37	8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000404895.2	+	10	1819	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	UNC5D_ENST00000287272.2_Missense_Mutation_p.E428D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	497					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)				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)		GAGTGTCTGAGAGAGCTGAGT	0.473																																						ENST00000404895.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999507	0.990000	1.000000																										0				112						c.(1489-1491)gaG>gaT		unc-5 homolog D (C. elegans)							77.0	78.0	78.0					8																	35583857		2203	4300	6503	SO:0001583	missense	137970	0	0					g.chr8:35583857G>T	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.1491G>T	chr8.hg19:g.35583857G>T	ENSP00000385143:p.Glu497Asp	0					UNC5D_ENST00000287272.2_Missense_Mutation_p.E428D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D	p.E497D	NM_080872.2	NP_543148.2	0	0	0	1.973482	Q6UXZ4	UNC5D_HUMAN		10	1819	+			Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	1	1	hg19	c.1491G>T	CCDS6093.2	1	.	.	.	.	.	.	.	.	.	.	G	3.978	-0.007080	0.07773	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53423	0.65;1.11;1.14;0.65;0.62;2.6	6.04	0.374	0.16183	6.04	0.374	0.16183	.	0.298550	0.41605	N	0.000856	T	0.18509	0.0444	N	0.11789	0.175	0.33498	D	0.589572	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.004;0.002	T	0.31806	-0.9930	10	0.02654	T	1	-15.9669	3.5666	0.07903	0.1971:0.2926:0.4098:0.1005	.	73;502;492;497	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	D	497;430;428;502;492;73	ENSP00000385143:E497D;ENSP00000392739:E430D;ENSP00000287272:E428D;ENSP00000412652:E502D;ENSP00000394303:E492D;ENSP00000397211:E73D	ENSP00000287272:E428D	E	+	3	2	2	UNC5D	35703399	35703399	0.011000	0.17503	0.998000	0.56505	0.888000	0.51559	-0.587000	0.05780	0.113000	0.18004	0.563000	0.77884	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-3.143200	1	0.170000				36	36		243	238	1		1	0		0	0	43	0		1	1.774312e-02	0	0	0	2	0	36	243
KCNU1	157855	broad.mit.edu	37	8	36644856	36644856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36644856C>T	ENST00000399881.3	+	2	265	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	76					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCGCTAGGAGCCATGTAAGAA	0.423																																						ENST00000399881.3	1.000000	0.190000	8.500000e-01	3.400000e-01	0.560000	0.594056	0.560000	1.000000																										0				57						c.(226-228)agC>agT		potassium channel, subfamily U, member 1							88.0	85.0	86.0					8																	36644856		1927	4117	6044	SO:0001819	synonymous_variant	157855	0	0					g.chr8:36644856C>T	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.228C>T	chr8.hg19:g.36644856C>T		0						p.S76S	NM_001031836.2	NP_001027006.2	0	0	0	1.973482	A8MYU2	KCNU1_HUMAN		2	265	+				Silent	SNP	ENST00000399881.3	0	1	hg19	c.228C>T	CCDS55220.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	0	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-7.549057	1	0.170000	NM_001031836			4	3		84	83	0		1			0	0	25	0		8.865372e-01	0	0	0	0	0	0	4	84
KCNU1	157855	broad.mit.edu	37	8	36694367	36694367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	474	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)			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)		ACATCATCTGCTTTGCTGAAT	0.428																																						ENST00000399881.3	1.000000	0.790000	1	9.100000e-01	0.990000	0.969929	0.990000	1.000000																										0				57						c.(1420-1422)tgC>tgT		potassium channel, subfamily U, member 1							148.0	147.0	147.0					8																	36694367		1872	4116	5988	SO:0001819	synonymous_variant	157855	0	0					g.chr8:36694367C>T	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.1422C>T	chr8.hg19:g.36694367C>T		0						p.C474C	NM_001031836.2	NP_001027006.2	0	0	0	1.973482	A8MYU2	KCNU1_HUMAN		14	1459	+				Silent	SNP	ENST00000399881.3	1	1	hg19	c.1422C>T	CCDS55220.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-14.118470	1	0.170000	NM_001031836			47	46		469	464	0		1			0	0	103	0		1	0	0	0	0	0	0	47	469
KCNU1	157855	broad.mit.edu	37	8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	rs138865963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1070					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAGACACATTCAGACACAAA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		20953	0.0		0.001	False		,,,				2504	0.0					ENST00000399881.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3208-3210)Tca>Gca		potassium channel, subfamily U, member 1							141.0	138.0	139.0					8																	36793196		1928	4144	6072	SO:0001583	missense	157855	4	120864	39				g.chr8:36793196T>G	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.3208T>G	chr8.hg19:g.36793196T>G	ENSP00000382770:p.Ser1070Ala	0						p.S1070A	NM_001031836.2	NP_001027006.2	0	0	0	1.973482	A8MYU2	KCNU1_HUMAN		27	3245	+				Missense_Mutation	SNP	ENST00000399881.3	1	1	hg19	c.3208T>G	CCDS55220.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.024	0.559231	0.13436	.	.	ENSG00000215262	ENST00000399881	T	0.35605	1.3	4.96	-9.93	0.00452	4.96	-9.93	0.00452	.	.	.	.	.	T	0.18800	0.0451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.62326	D	0.03	.	0.384	0.00399	0.3759:0.1556:0.229:0.2394	.	1070	A8MYU2	KCNU1_HUMAN	A	1070	ENSP00000382770:S1070A	ENSP00000382770:S1070A	S	+	1	0	0	KCNU1	36912354	36912354	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.320000	0.00513	-3.904000	0.00093	-1.119000	0.02030	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_001031836			104	100		396	389	1		1			0	0	90	0		1	0	0	0	0	0	0	104	396
GPR124	25960	broad.mit.edu	37	8	37687516	37687516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	ENST00000412232.2	+	6	715	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_ENST00000315215.7_Missense_Mutation_p.E234D	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	234	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCAGGAGGCCCAGCTCT	0.667																																						ENST00000412232.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999612	0.990000	1.000000																										0				37						c.(700-702)gaG>gaT		G protein-coupled receptor 124							21.0	18.0	19.0					8																	37687516		2199	4293	6492	SO:0001583	missense	25960	2	120718	27				g.chr8:37687516G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.702G>T	chr8.hg19:g.37687516G>T	ENSP00000406367:p.Glu234Asp	0					GPR124_ENST00000315215.7_Missense_Mutation_p.E234D	p.E234D	NM_032777.9	NP_116166.9	0	0	0	1.973482	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)	6	715	+			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	0	1	hg19	c.702G>T	CCDS6097.2	1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254261	0.22965	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59083	0.29;0.37	5.21	0.839	0.18907	5.21	0.839	0.18907	Cysteine-rich flanking region, C-terminal (1);	0.058404	0.64402	D	0.000003	T	0.40956	0.1138	L	0.42632	1.34	0.29098	N	0.881634	B;B	0.26512	0.151;0.012	B;B	0.28553	0.091;0.012	T	0.17930	-1.0353	9	.	.	.	-29.2225	3.1779	0.06575	0.2881:0.0944:0.4902:0.1273	.	234;234	Q96PE1-2;Q96PE1	.;GP124_HUMAN	D	227;234;234	ENSP00000323508:E234D;ENSP00000406367:E234D	.	E	+	3	2	2	GPR124	37806674	37806674	0.046000	0.20272	0.969000	0.41365	0.417000	0.31264	0.393000	0.20817	0.205000	0.20568	-0.448000	0.05591	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000				14	14		50	49	0		1	0		0	0	12	0		9.998531e-01	1	0	0	0	217	0	14	50
GPR124	25960	broad.mit.edu	37	8	37691268	37691268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000412232.2	+	10	1372	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000315215.7_Silent_p.E453E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	453					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527																																						ENST00000412232.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1357-1359)gaG>gaA		G protein-coupled receptor 124							107.0	102.0	104.0					8																	37691268		2203	4300	6503	SO:0001819	synonymous_variant	25960	0	0					g.chr8:37691268G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1359G>A	chr8.hg19:g.37691268G>A		0					GPR124_ENST00000315215.7_Silent_p.E453E	p.E453E	NM_032777.9	NP_116166.9	0	0	0	1.973482	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)	10	1372	+			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	1	1	hg19	c.1359G>A	CCDS6097.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.670191	1	0.170000				96	95		370	367	1		1	0		0	0	94	0		1	1	0	0	0	168	0	96	370
RAB11FIP1	80223	broad.mit.edu	37	8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	435					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				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)			AGACAGCAAAGAGGACCTCCT	0.562																																						ENST00000330843.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.993607	0.990000	1.000000																										0				49						c.(1303-1305)tCt>tAt		RAB11 family interacting protein 1 (class I)							122.0	113.0	116.0					8																	37732351		2203	4300	6503	SO:0001583	missense	80223	0	0					g.chr8:37732351G>T	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.1304C>A	chr8.hg19:g.37732351G>T	ENSP00000331342:p.Ser435Tyr	0					RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y	p.S435Y	NM_001002814.2	NP_001002814.2	0	0	0	1.973482	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)	3	1316	-		Lung NSC(58;0.118)|all_lung(54;0.195)	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	1	1	hg19	c.1304C>A	CCDS34882.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050679	0.55218	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38240	1.95;1.95;1.23;1.15	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.312246	0.28093	N	0.016627	T	0.56819	0.2011	M	0.72894	2.215	0.34544	D	0.71056	D;D;D;D	0.76494	0.989;0.99;0.993;0.999	P;D;P;D	0.64595	0.768;0.912;0.884;0.927	T	0.70171	-0.4945	10	0.56958	D	0.05	-6.8887	14.5917	0.68371	0.0:0.1465:0.8535:0.0	.	287;287;435;435	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Y	435;435;287;287	ENSP00000287263:S435Y;ENSP00000331342:S435Y;ENSP00000430009:S287Y;ENSP00000430680:S287Y	ENSP00000287263:S435Y	S	-	2	0	0	RAB11FIP1	37851509	37851509	1.000000	0.71417	0.925000	0.36789	0.612000	0.37316	4.742000	0.62103	2.264000	0.75181	0.563000	0.77884	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-3.221883	1	0.170000	NM_025151			85	84		790	775	0		1	1		0	0	167	0		1	9.999917e-01	0	14	0	137	0	85	790
RAB11FIP1	80223	broad.mit.edu	37	8	37732467	37732467	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P396P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	396					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				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)			GTCGGTAGGACGGCAGGGTCA	0.577																																						ENST00000330843.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1186-1188)ccG>ccA		RAB11 family interacting protein 1 (class I)							56.0	54.0	55.0					8																	37732467		2203	4300	6503	SO:0001819	synonymous_variant	80223	1	121412	35				g.chr8:37732467C>T	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.1188G>A	chr8.hg19:g.37732467C>T		0					RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	p.P396P	NM_001002814.2	NP_001002814.2	0	0	0	1.973482	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)	3	1200	-		Lung NSC(58;0.118)|all_lung(54;0.195)	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	1	1	hg19	c.1188G>A	CCDS34882.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	1	0	1		21	2	2	0		0	1	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_025151			88	88		352	342	1		1	1		0	0	68	0		1	1	0	54	0	112	0	88	352
GOT1L1	137362	broad.mit.edu	37	8	37794814	37794814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37794814A>G	ENST00000307599.4	-	4	599	c.500T>C	c.(499-501)aTa>aCa	p.I167T	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	167					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGAGGAGTATGTCGGGGTC	0.527																																						ENST00000307599.4	1.000000	0.230000	8.600000e-01	3.800000e-01	0.590000	0.618006	0.590000	1.000000																										0				14						c.(499-501)aTa>aCa		glutamic-oxaloacetic transaminase 1-like 1							45.0	44.0	44.0					8																	37794814		1870	4098	5968	SO:0001583	missense	137362	0	0					g.chr8:37794814A>G	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.500T>C	chr8.hg19:g.37794814A>G	ENSP00000303077:p.Ile167Thr	0					GOT1L1_ENST00000518826.1_5'Flank	p.I167T	NM_152413.2	NP_689626.2	0	0	0	1.973482	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)	4	599	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	0	1	hg19	c.500T>C	CCDS47839.1	0	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618961	0.14129	.	.	ENSG00000169154	ENST00000307599	D	0.90197	-2.63	5.04	0.786	0.18590	5.04	0.786	0.18590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.638950	0.04042	N	0.303177	D	0.83760	0.5324	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.70854	-0.4759	10	0.72032	D	0.01	0.6327	4.5629	0.12168	0.4287:0.1544:0.0:0.4168	.	167	Q8NHS2	AATC2_HUMAN	T	167	ENSP00000303077:I167T	ENSP00000303077:I167T	I	-	2	0	0	GOT1L1	37913971	37913971	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.839000	0.27586	0.237000	0.21200	-0.468000	0.05107	ATA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-8.904217	1	0.170000	NM_152413			5	5		98	98	0		1			0	0	14	0		9.391240e-01	0	0	0	0	0	0	5	98
STAR	6770	broad.mit.edu	37	8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	246	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557																																						ENST00000276449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(736-738)Gac>Aac		steroidogenic acute regulatory protein							122.0	99.0	107.0					8																	38002748		2203	4300	6503	SO:0001583	missense	6770	0	0					g.chr8:38002748C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.736G>A	chr8.hg19:g.38002748C>T	ENSP00000276449:p.Asp246Asn	0						p.D246N	NM_000349.2	NP_000340.2	0	0	0	1.973482	P49675	STAR_HUMAN		6	1182	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	Q16396	Missense_Mutation	SNP	ENST00000276449.4	1	1	hg19	c.736G>A	CCDS6102.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417682	0.83449	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84370	-1.84	5.86	5.86	0.93980	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.92218	0.5782	10	0.45353	T	0.12	-45.589	20.1931	0.98233	0.0:1.0:0.0:0.0	.	208;246	E7ETA9;P49675	.;STAR_HUMAN	N	246;208	ENSP00000276449:D246N	ENSP00000276449:D246N	D	-	1	0	0	STAR	38121905	38121905	1.000000	0.71417	0.997000	0.53966	0.473000	0.32948	6.559000	0.73946	2.771000	0.95319	0.563000	0.77884	GAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	1		2	2	2	0		0	0	85		85	83	1	2.060000	-20.000000	1	0.170000	NM_000349			59	59		267	258	1		1			0	0	85	0		1	0	0	0	0	0	0	59	267
STAR	6770	broad.mit.edu	37	8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	56					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642																																						ENST00000276449.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(166-168)aGc>aAc		steroidogenic acute regulatory protein							44.0	47.0	46.0					8																	38006170		2203	4300	6503	SO:0001583	missense	6770	0	0					g.chr8:38006170C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.167G>A	chr8.hg19:g.38006170C>T	ENSP00000276449:p.Ser56Asn	0					RP11-90P5.2_ENST00000520598.1_RNA	p.S56N	NM_000349.2	NP_000340.2	0	0	0	1.973482	P49675	STAR_HUMAN		2	613	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	Q16396	Missense_Mutation	SNP	ENST00000276449.4	1	1	hg19	c.167G>A	CCDS6102.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.55|19.55	3.848541|3.848541	0.71603|0.71603	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449	.|D	.|0.86366	.|-2.11	5.39|5.39	5.39|5.39	0.77823|0.77823	5.39|5.39	5.39|5.39	0.77823|0.77823	.|START-like domain (1);	.|0.035602	.|0.85682	.|D	.|0.000000	D|D	0.86859|0.86859	0.6034|0.6034	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.82099|0.82099	-0.0625|-0.0625	5|10	.|0.33940	.|T	.|0.23	-21.6343|-21.6343	19.5117|19.5117	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56	.|P49675	.|STAR_HUMAN	T|N	35|56	.|ENSP00000276449:S56N	.|ENSP00000276449:S56N	A|S	-|-	1|2	0|0	0|0	STAR|STAR	38125327|38125327	38125327|38125327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	2.710000|2.710000	0.47169|0.47169	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GCT|AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	0		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_000349			48	48		233	227	1		1	0		0	0	62	0		1	0	0	1	0	0	0	48	233
STAR	6770	broad.mit.edu	37	8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	27					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602																																						ENST00000276449.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999623	0.990000	1.000000																										0				11						c.(79-81)gCt>gTt		steroidogenic acute regulatory protein							31.0	34.0	33.0					8																	38006257		2203	4300	6503	SO:0001583	missense	6770	0	0					g.chr8:38006257G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.80C>T	chr8.hg19:g.38006257G>A	ENSP00000276449:p.Ala27Val	0					RP11-90P5.2_ENST00000520598.1_RNA	p.A27V	NM_000349.2	NP_000340.2	0	0	0	1.973482	P49675	STAR_HUMAN		2	526	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	Q16396	Missense_Mutation	SNP	ENST00000276449.4	1	1	hg19	c.80C>T	CCDS6102.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169796	0.78452	.	.	ENSG00000147465	ENST00000276449	D	0.91295	-2.82	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.046597	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81112	2.525	0.80722	D	1	D	0.56968	0.978	P	0.57468	0.821	D	0.95149	0.8271	10	0.87932	D	0	-11.4038	19.2762	0.94032	0.0:0.0:1.0:0.0	.	27	P49675	STAR_HUMAN	V	27	ENSP00000276449:A27V	ENSP00000276449:A27V	A	-	2	0	0	STAR	38125414	38125414	1.000000	0.71417	0.098000	0.21074	0.326000	0.28443	8.819000	0.91997	2.630000	0.89119	0.462000	0.41574	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.323919	1	0.170000	NM_000349			30	31		186	185	1		1			0	0	45	0		1	0	0	0	0	0	0	30	186
DDHD2	23259	broad.mit.edu	37	8	38103326	38103326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_5'Flank|DDHD2_ENST00000520272.2_Silent_p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	305					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)			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)			ACACAATTCTGGATGTCTTCT	0.423																																						ENST00000397166.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(913-915)ctG>ctA		DDHD domain containing 2							141.0	142.0	142.0					8																	38103326		2203	4300	6503	SO:0001819	synonymous_variant	23259	0	0					g.chr8:38103326G>A	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.915G>A	chr8.hg19:g.38103326G>A		0					DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_5'Flank|DDHD2_ENST00000520272.2_Silent_p.L305L	p.L305L	NM_015214.2	NP_056029.2	0	0	0	1.973482	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)	8	1440	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	1	1	hg19	c.915G>A	CCDS34883.1	1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813372	0.16537	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.55	4.68	0.58851	5.55	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0366	13.9591	0.64168	0.0733:0.0:0.9267:0.0	.	.	.	.	X	98	.	.	W	+	2	0	0	DDHD2	38222483	38222483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	1.482000	0.48325	0.585000	0.79938	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-2.663979	1	0.170000	XM_291291			128	122		602	592	1		1	1		0	0	158	0		1	9.999957e-01	0	10	0	73	0	128	602
DDHD2	23259	broad.mit.edu	37	8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	383					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)			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)			TATTGTAATGGATCAAGGAGA	0.299																																						ENST00000397166.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				28						c.(1147-1149)Gat>Tat		DDHD domain containing 2							58.0	63.0	62.0					8																	38105252		2203	4295	6498	SO:0001583	missense	23259	0	0					g.chr8:38105252G>T	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.1147G>T	chr8.hg19:g.38105252G>T	ENSP00000380352:p.Asp383Tyr	0					DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y	p.D383Y	NM_015214.2	NP_056029.2	0	0	0	1.973482	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)	10	1672	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	1	1	hg19	c.1147G>T	CCDS34883.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360789	0.61403	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T	0.33438	1.41;1.41	5.88	5.88	0.94601	5.88	5.88	0.94601	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.876669	0.10238	N	0.698732	T	0.29458	0.0734	L	0.50333	1.59	0.80722	D	1	B;B	0.26041	0.14;0.028	B;B	0.26770	0.073;0.015	T	0.14952	-1.0454	10	0.02654	T	1	-3.7601	15.7372	0.77853	0.0:0.0:1.0:0.0	.	195;383	B4DSR3;O94830	.;DDHD2_HUMAN	Y	383;383;195;2	ENSP00000380352:D383Y;ENSP00000429932:D383Y	ENSP00000380352:D383Y	D	+	1	0	0	DDHD2	38224409	38224409	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	6.196000	0.72094	2.788000	0.95919	0.555000	0.69702	GAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-3.323597	1	0.170000	XM_291291			46	46		264	262	1		1	1		0	0	88	0		1	9.998340e-01	0	17	0	60	0	46	264
PPAPDC1B	84513	broad.mit.edu	37	8	38123804	38123804	+	Silent	SNP	C	C	T	rs561458814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000424479.2	-	6	509	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	163					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.001					ENST00000424479.2	1.000000	0.720000	1	9.800000e-01	0.990000	0.976059	0.990000	1.000000																										0				2						c.(487-489)gcG>gcA		phosphatidic acid phosphatase type 2 domain containing 1B																																				SO:0001819	synonymous_variant	84513	14	120888	40				g.chr8:38123804C>T	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.489G>A	chr8.hg19:g.38123804C>T		0					PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A	p.A163A	NM_001102559.1	NP_001096029.1	0	0	0	1.973482	Q8NEB5	PPC1B_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)	6	509	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	1	1	hg19	c.489G>A	CCDS47841.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-7.860106	1	0.170000	NM_032483			11	11		83	82	1		1	1		0	0	26	0		9.985890e-01	9.998782e-01	0	42	0	95	0	11	83
C8orf86	389649	broad.mit.edu	37	8	38369971	38369971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527																																						ENST00000358138.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(604-606)acC>acT		chromosome 8 open reading frame 86							49.0	51.0	50.0					8																	38369971		2203	4300	6503	SO:0001819	synonymous_variant	389649	1	121412	30				g.chr8:38369971G>A	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.606C>T	chr8.hg19:g.38369971G>A		0					C8orf86_ENST00000437935.2_3'UTR	p.T202T	NM_207412.1	NP_997295.1	0	0	0	1.973482	Q6ZUL3	CH086_HUMAN		3	630	-			A4QPB7	Silent	SNP	ENST00000358138.1	1	1	hg19	c.606C>T	CCDS6108.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_207412			65	64		269	262	1		1			0	0	76	1		1	0	0	0	0	0	0	65	269
TACC1	6867	broad.mit.edu	37	8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000317827.4	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	176	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCTGTGTAACTGCAGTCTC	0.557																																						ENST00000317827.4	0.530000	0.200000	4.400000e-01	2.700000e-01	0.340000	0.360575	0.340000	0.340000																										0				17						c.(526-528)Act>Gct		transforming, acidic coiled-coil containing protein 1							76.0	79.0	78.0					8																	38677288		2203	4300	6503	SO:0001583	missense	6867	0	0					g.chr8:38677288A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.526A>G	chr8.hg19:g.38677288A>G	ENSP00000321703:p.Thr176Ala	0					TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR	p.T176A	NM_006283.2	NP_006274.2	0	0	0	1.973482	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)	3	905	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	1	1	hg19	c.526A>G	CCDS6109.1	0	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168925	0.09339	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.14;3.13;2.95;3.15;3.15	4.65	-1.92	0.07618	4.65	-1.92	0.07618	.	0.905143	0.09444	N	0.801377	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.0;0.085;0.228	B;B;B	0.27796	0.001;0.039;0.083	T	0.44236	-0.9341	10	0.11182	T	0.66	0.1713	5.7161	0.17960	0.2284:0.3746:0.397:0.0	.	192;176;131	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	A	192;131;148;176;176	ENSP00000393647:T192A;ENSP00000428706:T131A;ENSP00000430355:T148A;ENSP00000321703:T176A;ENSP00000369263:T176A	ENSP00000321703:T176A	T	+	1	0	0	TACC1	38796445	38796445	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-0.796000	0.04575	-0.203000	0.10251	0.460000	0.39030	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	0	0	0		2	2	2	0		0	0	126		126	126	1	2.060000	-15.002460	1	0.170000	NM_006283			17	17		556	549	0		1	1		0	0	126	0		9.999619e-01	9.062444e-01	0	3	0	133	0	17	556
TACC1	6867	broad.mit.edu	37	8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000317827.4	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	188	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582																																						ENST00000317827.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(562-564)Cca>Tca		transforming, acidic coiled-coil containing protein 1							57.0	61.0	60.0					8																	38677324		2203	4300	6503	SO:0001583	missense	6867	0	0					g.chr8:38677324C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.562C>T	chr8.hg19:g.38677324C>T	ENSP00000321703:p.Pro188Ser	0					TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR	p.P188S	NM_006283.2	NP_006274.2	0	0	0	1.973482	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)	3	941	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	1	1	hg19	c.562C>T	CCDS6109.1	1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931298	0.02359	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.11604	2.95;2.91;2.76;3.0;3.01	4.76	1.72	0.24424	4.76	1.72	0.24424	.	0.465646	0.19722	N	0.107580	T	0.04003	0.0112	N	0.11560	0.145	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	0.36407	-0.9749	10	0.23891	T	0.37	-1.0066	0.6547	0.00832	0.1877:0.3759:0.1825:0.2539	.	204;188;143	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	S	204;143;160;188;188	ENSP00000393647:P204S;ENSP00000428706:P143S;ENSP00000430355:P160S;ENSP00000321703:P188S;ENSP00000369263:P188S	ENSP00000321703:P188S	P	+	1	0	0	TACC1	38796481	38796481	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.160000	0.16462	0.599000	0.29845	-1.259000	0.01468	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	1	0	0		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_006283			96	96		396	392	1		1	1		0	0	100	0		1	1	0	7	0	143	0	96	396
TACC1	6867	broad.mit.edu	37	8	38678031	38678031	+	Silent	SNP	C	C	T	rs374553789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000317827.4	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000443286.2_Silent_p.D439D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	423	Interaction with YEATS4.|SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473																																						ENST00000317827.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1267-1269)gaC>gaT		transforming, acidic coiled-coil containing protein 1		C	,,	0,4406		0,0,2203	158.0	171.0	166.0		,684,1269	-6.1	0.3	8		166	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,228/611,423/806	38678031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6867	2	121412	38				g.chr8:38678031C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1269C>T	chr8.hg19:g.38678031C>T		0					TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.D228D	p.D423D	NM_006283.2	NP_006274.2	0	0	0	1.973482	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)	3	1648	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	1	1	hg19	c.1269C>T	CCDS6109.1	1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589634	0.13812	0.0	1.16E-4	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.69	-6.11	0.02131	5.69	-6.11	0.02131	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	-10.6288	10.8991	0.47040	0.0:0.233:0.0937:0.6733	.	.	.	.	M	198;61	.	.	T	+	2	0	0	TACC1	38797188	38797188	0.101000	0.21875	0.274000	0.24659	0.684000	0.39900	-0.691000	0.05133	-1.564000	0.01678	-0.768000	0.03414	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	0	0	1		2	2	2	0		0	0	218		218	217	1	2.060000	-20.000000	1	0.170000	NM_006283			187	185		922	911	0		1	1		0	0	218	0		1	1	0	11	0	234	0	187	922
ADAM9	8754	broad.mit.edu	37	8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	652	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			AAGTGTCATGGACATGGGGTA	0.358																																						ENST00000487273.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1954-1956)gGa>gAa		ADAM metallopeptidase domain 9							205.0	200.0	201.0					8																	38940233		2203	4300	6503	SO:0001583	missense	8754	0	0					g.chr8:38940233G>A	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.1955G>A	chr8.hg19:g.38940233G>A	ENSP00000419446:p.Gly652Glu	0					ADAM9_ENST00000484143.1_3'UTR	p.G652E	NM_003816.2	NP_003807.1	0	0	0	1.973482	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)	17	2033	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	1	1	hg19	c.1955G>A	CCDS6112.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951111	0.92660	.	.	ENSG00000168615	ENST00000487273	D	0.97232	-4.3	5.61	5.61	0.85477	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052098	0.85682	D	0.000000	D	0.97688	0.9242	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	D	0.97468	1.0039	10	0.46703	T	0.11	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	652	Q13443	ADAM9_HUMAN	E	652	ENSP00000419446:G652E	ENSP00000369249:G652E	G	+	2	0	0	ADAM9	39059390	39059390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	2.803000	0.96430	0.650000	0.86243	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2	1	0	1		2	2	2	0		0	0	57		57	53	1	2.060000	-20.000000	1	0.170000				77	70		324	315	1		1	1		0	0	57	0		1	1	0	386	0	684	0	77	324
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)			TGCCATTGTTCGCCAGGCTAT	0.363																																						ENST00000379907.4	1.000000	0.700000	1	9.900000e-01	0.990000	0.974457	0.990000	1.000000																										0				31						c.(1933-1935)tCg>tTg		ADAM metallopeptidase domain 32							48.0	46.0	47.0					8																	39111964		1831	4079	5910	SO:0001583	missense	203102	3	120544	25				g.chr8:39111964C>T	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.1934C>T	chr8.hg19:g.39111964C>T	ENSP00000369238:p.Ser645Leu	0					ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L|ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L	p.S645L	NM_145004.5	NP_659441	0	0	0	1.973482	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)	18	2061	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	0	1	hg19	c.1934C>T	CCDS47846.1	1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	0	ADAM32	39231121	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-15.745830	1	0.170000	NM_145004			9	9		64	64	1		1	0		0	0	15	0		9.952119e-01	0	0	0	0	1	0	9	64
ADAM18	8749	broad.mit.edu	37	8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	517	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)			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)			CATTTGCCTGTTTTAAAGAAG	0.328																																						ENST00000265707.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(1549-1551)tgT>tgG		ADAM metallopeptidase domain 18							84.0	83.0	83.0					8																	39534975		2203	4299	6502	SO:0001583	missense	8749	0	0					g.chr8:39534975T>G	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.1551T>G	chr8.hg19:g.39534975T>G	ENSP00000265707:p.Cys517Trp	0					ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W	p.C517W	NM_014237.2	NP_055052.1	0	0	0	1.973482	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)	15	1596	+		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)	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	1	1	hg19	c.1551T>G	CCDS6113.1	1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805065	0.50315	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63744	-0.06;-0.06	4.3	0.516	0.17019	4.3	0.516	0.17019	ADAM, cysteine-rich (2);	0.000000	0.51477	D	0.000091	T	0.81997	0.4941	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79645	-0.1717	10	0.87932	D	0	.	6.6061	0.22726	0.0:0.265:0.0:0.735	.	493;517	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	517;493;449	ENSP00000265707:C517W;ENSP00000369195:C493W	ENSP00000265707:C517W	C	+	3	2	2	ADAM18	39654132	39654132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.157000	0.16402	0.085000	0.17107	0.460000	0.39030	TGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.999870	1	0.170000	NM_014237			41	40		183	179	1		1			0	0	37	0		1	0	0	0	0	0	0	41	183
ADAM18	8749	broad.mit.edu	37	8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A	rs372659771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	722					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)			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)			CAGAGAGAATGCAGAGTATAA	0.279																																						ENST00000265707.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2164-2166)Gca>Aca		ADAM metallopeptidase domain 18			THR/ALA	1,4403		0,1,2201	86.0	92.0	90.0		2164	-5.6	0.0	8		90	0,8594		0,0,4297	no	missense	ADAM18	NM_014237.2	58	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	722/740	39581413	1,12997	2202	4297	6499	SO:0001583	missense	8749	1	121382	29				g.chr8:39581413G>A	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.2164G>A	chr8.hg19:g.39581413G>A	ENSP00000265707:p.Ala722Thr	0					ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T	p.A722T	NM_014237.2	NP_055052.1	0	0	0	1.973482	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)	19	2209	+		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)	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	1	1	hg19	c.2164G>A	CCDS6113.1	1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091009	0.08632	2.27E-4	0.0	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93859	-3.3;-3.3;-3.3	4.7	-5.63	0.02474	4.7	-5.63	0.02474	.	1.710450	0.03277	N	0.185673	T	0.79730	0.4496	N	0.04994	-0.135	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.72207	-0.4360	10	0.15499	T	0.54	.	1.4074	0.02283	0.2341:0.1267:0.3875:0.2518	.	698;722	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	722;698;136	ENSP00000265707:A722T;ENSP00000369195:A698T;ENSP00000444729:A136T	ENSP00000265707:A722T	A	+	1	0	0	ADAM18	39700570	39700570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.137000	0.03219	-0.649000	0.05430	-0.442000	0.05670	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	1	0	1		2	2	2	0		0	0	97		97	96	1	2.060000	-20.000000	1	0.170000	NM_014237			54	53		233	230	1		1			0	0	97	0		1	0	0	0	0	0	0	54	233
ADAM2	2515	broad.mit.edu	37	8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000265708.4	-	18	2102	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	667					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)			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)		AGTCTGGCTGGTATAGCTACA	0.333																																						ENST00000265708.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1999-2001)Cca>Tca		ADAM metallopeptidase domain 2							60.0	60.0	60.0					8																	39606846		2203	4298	6501	SO:0001583	missense	2515	0	0					g.chr8:39606846G>A	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.1999C>T	chr8.hg19:g.39606846G>A	ENSP00000265708:p.Pro667Ser	0					ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S	p.P667S	NM_001464.3	NP_001455.3	0	0	0	1.973482	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	18	2102	-		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)	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	1	1	hg19	c.1999C>T	CCDS34884.1	1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444814	0.04604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02032	5.13;4.49;5.37;5.3	1.93	-3.85	0.04243	1.93	-3.85	0.04243	.	.	.	.	.	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	B;B;P;B	0.38078	0.036;0.127;0.617;0.007	B;B;B;B	0.37144	0.013;0.045;0.242;0.006	T	0.43458	-0.9390	9	0.12430	T	0.62	.	6.3253	0.21240	0.0:0.5358:0.2579:0.2063	.	604;511;648;667	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	648;511;667;604	ENSP00000343854:P648S;ENSP00000369182:P511S;ENSP00000265708:P667S;ENSP00000429352:P604S	ENSP00000265708:P667S	P	-	1	0	0	ADAM2	39726003	39726003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.825000	0.00747	-1.126000	0.02929	-0.300000	0.09419	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_001464			61	59		267	264	1		1			0	0	67	0		1	0	0	0	0	0	0	61	267
IDO1	3620	broad.mit.edu	37	8	39780089	39780089	+	Silent	SNP	C	C	T	rs115833371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	152					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ACGTTTTGTTCTCATTTCGTG	0.373																																						ENST00000518237.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(454-456)ttC>ttT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)|Melatonin(DB01065)						136.0	125.0	128.0					8																	39780089		1857	4109	5966	SO:0001819	synonymous_variant	3620	0	0					g.chr8:39780089C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.456C>T	chr8.hg19:g.39780089C>T		0					RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F|RP11-44K6.3_ENST00000517623.1_RNA	p.F152F	NM_002164.5	NP_002155.1	0	0	0	1.973482	P14902	I23O1_HUMAN		6	1095	+			Q540B4	Silent	SNP	ENST00000518237.1	1	1	hg19	c.456C>T	CCDS47847.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.259312	1	0.170000	NM_002164			51	51		199	196	1		1	1		0	0	38	0		1	1	0	119	0	326	0	51	199
IDO2	169355	broad.mit.edu	37	8	39872830	39872830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000389060.4	+	10	933	c.933C>T	c.(931-933)atC>atT	p.I311I	IDO2_ENST00000502986.2_Silent_p.I324I|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	311					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498																																						ENST00000389060.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				18						c.(931-933)atC>atT		indoleamine 2,3-dioxygenase 2							94.0	88.0	90.0					8																	39872830		2019	4181	6200	SO:0001819	synonymous_variant	169355	0	0					g.chr8:39872830C>T	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.933C>T	chr8.hg19:g.39872830C>T		0					IDO2_ENST00000502986.2_Silent_p.I324I|IDO2_ENST00000343295.4_3'UTR	p.I311I			0	0	0	1.973482	Q6ZQW0	I23O2_HUMAN		10	933	+			A4UD41	Silent	SNP	ENST00000389060.4	1	1	hg19	c.933C>T		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.389605	1	0.170000	NM_194294			37	36		180	177	1		1	0		0	0	64	0		1	0	0	0	0	1	0	37	180
IDO2	169355	broad.mit.edu	37	8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000389060.4	+	10	1196	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	IDO2_ENST00000502986.2_Missense_Mutation_p.L412S|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	399					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567																																						ENST00000389060.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1195-1197)tTg>tCg		indoleamine 2,3-dioxygenase 2							101.0	99.0	100.0					8																	39873093		1971	4152	6123	SO:0001583	missense	169355	0	0					g.chr8:39873093T>C	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.1196T>C	chr8.hg19:g.39873093T>C	ENSP00000426447:p.Leu399Ser	0					IDO2_ENST00000502986.2_Missense_Mutation_p.L412S|IDO2_ENST00000343295.4_3'UTR	p.L399S			0	0	0	1.973482	Q6ZQW0	I23O2_HUMAN		10	1196	+			A4UD41	Missense_Mutation	SNP	ENST00000389060.4	1	1	hg19	c.1196T>C		1	.	.	.	.	.	.	.	.	.	.	T	7.742	0.701517	0.15172	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46819	0.86;0.86	5.93	1.95	0.26073	5.93	1.95	0.26073	.	0.356037	0.26700	N	0.022959	T	0.28764	0.0713	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.12837	0.005;0.008	T	0.09487	-1.0672	9	.	.	.	.	1.7147	0.02899	0.2668:0.0793:0.1567:0.4972	.	412;399	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	412;399	ENSP00000443432:L412S;ENSP00000426447:L399S	.	L	+	2	0	0	IDO2	39992250	39992250	0.009000	0.17119	0.005000	0.12908	0.014000	0.08584	0.496000	0.22499	0.455000	0.26910	0.533000	0.62120	TTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	0	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000	NM_194294			78	77		385	383	1		1			0	0	88	0		1	0	0	0	0	0	0	78	385
SFRP1	6422	broad.mit.edu	37	8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000220772.3	-	3	1182	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	282	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|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)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|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 extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498																																						ENST00000220772.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(844-846)aCg>aTg		secreted frizzled-related protein 1							126.0	107.0	113.0					8																	41122786		2203	4300	6503	SO:0001583	missense	6422	4	121412	37				g.chr8:41122786G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.845C>T	chr8.hg19:g.41122786G>A	ENSP00000220772:p.Thr282Met	0					SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	p.T282M	NM_003012.4	NP_003003.3	0	0	0	1.973482	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)	3	1182	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	1	1	hg19	c.845C>T	CCDS34886.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255938	0.80135	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.27557	1.66;1.66	4.7	4.7	0.59300	4.7	4.7	0.59300	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	P	0.42757	0.789	B	0.41332	0.354	T	0.17258	-1.0375	10	0.41790	T	0.15	.	16.8129	0.85725	0.0:0.0:1.0:0.0	.	282	Q8N474	SFRP1_HUMAN	M	282;146;282	ENSP00000220772:T282M;ENSP00000369174:T146M	ENSP00000220772:T282M	T	-	2	0	0	SFRP1	41241943	41241943	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	5.449000	0.66619	2.444000	0.82710	0.563000	0.77884	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	0	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_003012			85	85		304	298	1		1	0		0	0	60	0		1	3.043255e-01	0	0	0	5	0	85	304
SFRP1	6422	broad.mit.edu	37	8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000220772.3	-	2	926	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	197	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|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)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|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 extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522																																						ENST00000220772.3	1.000000	0.540000	1	7.100000e-01	0.900000	0.873567	0.900000	1.000000																										0				7						c.(589-591)Gcc>Tcc		secreted frizzled-related protein 1							127.0	108.0	114.0					8																	41161013		2203	4300	6503	SO:0001583	missense	6422	0	0					g.chr8:41161013C>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.589G>T	chr8.hg19:g.41161013C>A	ENSP00000220772:p.Ala197Ser	0					SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	p.A197S	NM_003012.4	NP_003003.3	0	0	0	1.973482	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)	2	926	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	1	1	hg19	c.589G>T	CCDS34886.1	1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931677	0.34096	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.186377	0.46145	D	0.000304	T	0.18425	0.0442	N	0.17474	0.49	0.41152	D	0.986038	B	0.13145	0.007	B	0.14023	0.01	T	0.08310	-1.0728	10	0.09338	T	0.73	.	13.877	0.63660	0.1523:0.8477:0.0:0.0	.	197	Q8N474	SFRP1_HUMAN	S	197;61;197	ENSP00000220772:A197S;ENSP00000369174:A61S	ENSP00000220772:A197S	A	-	1	0	0	SFRP1	41280170	41280170	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	1.723000	0.38053	2.793000	0.96121	0.563000	0.77884	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	1	0	1		2	2	2	0		0	0	44		44	41	1	2.060000	-19.952770	1	0.170000	NM_003012			16	16		189	185	0		1	0		0	0	44	0		9.999347e-01	1.099893e-01	0	0	0	7	0	16	189
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	110					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)			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)			CTCCAGAGTTCGAGCTCTCTG	0.448																																						ENST00000396987.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(328-330)ttC>ttT		1-acylglycerol-3-phosphate O-acyltransferase 6							108.0	101.0	103.0					8																	41467268		2203	4300	6503	SO:0001819	synonymous_variant	137964	2	121412	34				g.chr8:41467268C>T	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.330C>T	chr8.hg19:g.41467268C>T		0					RP11-360L9.8_ENST00000581909.1_RNA	p.F110F	NM_178819.3	NP_848934.1	0	0	0	1.973482	Q86UL3	GPAT4_HUMAN	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)	4	1257	+	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)	Q86V89	Silent	SNP	ENST00000396987.3	1	1	hg19	c.330C>T	CCDS6117.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	1	0	1		2	2	2	0		0	0	85		85	84	1	2.060000	-3.558636	1	0.170000	NM_178819			115	112		441	427	1		1	1		0	0	85	0		1	1	0	51	0	201	0	115	441
ANK1	286	broad.mit.edu	37	8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000347528.4	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000289734.7_Missense_Mutation_p.P908L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	908					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)			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)			TGTATGCACCGGGCTGGCCAC	0.622																																						ENST00000347528.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999965	0.990000	1.000000																										0				122						c.(2722-2724)cCg>cTg		ankyrin 1, erythrocytic		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	38.0	42.0	41.0		2723,2846,2723,2723,2723	5.7	1.0	8	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	908/1881,949/1898,908/1857,908/1882,908/1720	41554206	1,13005	2203	4300	6503	SO:0001583	missense	286	0	0					g.chr8:41554206G>A	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.2723C>T	chr8.hg19:g.41554206G>A	ENSP00000339620:p.Pro908Leu	0					ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000289734.7_Missense_Mutation_p.P908L|ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L	p.P908L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	0	0	0	1.973482	P16157	ANK1_HUMAN	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)	25	2806	-	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)	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	1	1	hg19	c.2723C>T	CCDS6119.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117445	0.77323	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67171	-0.24;-0.24;-0.21;-0.19;-0.21;-0.2;-0.25	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.83692	2.655	0.80722	D	1	B;B;B;P;B;B	0.37636	0.178;0.414;0.012;0.603;0.178;0.413	B;B;B;B;B;B	0.34138	0.082;0.039;0.01;0.176;0.082;0.037	T	0.74423	-0.3670	10	0.48119	T	0.1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	949;908;908;908;908;224	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	908;908;908;908;908;908;949;908	ENSP00000339620:P908L;ENSP00000289734:P908L;ENSP00000369082:P908L;ENSP00000380149:P908L;ENSP00000380147:P908L;ENSP00000309131:P908L;ENSP00000265709:P949L	ENSP00000265709:P949L	P	-	2	0	0	ANK1	41673363	41673363	1.000000	0.71417	0.962000	0.40283	0.927000	0.56198	9.553000	0.98118	2.686000	0.91538	0.561000	0.74099	CCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-3.024486	1	0.170000	NM_020475			39	38		226	216	1		1	1		0	0	46	0		1	7.656724e-01	0	10	0	8	0	39	226
ANK1	286	broad.mit.edu	37	8	41561607	41561607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000347528.4	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000289734.7_Silent_p.I749I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	749	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)			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)			GCAGAGTCACGATGTCTGTGT	0.552																																						ENST00000347528.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				122						c.(2245-2247)atC>atT		ankyrin 1, erythrocytic							136.0	122.0	127.0					8																	41561607		2203	4300	6503	SO:0001819	synonymous_variant	286	0	0					g.chr8:41561607G>A	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.2247C>T	chr8.hg19:g.41561607G>A		0					ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000289734.7_Silent_p.I749I|ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I	p.I749I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	0	0	0	1.973482	P16157	ANK1_HUMAN	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)	20	2330	-	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)	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	1	1	hg19	c.2247C>T	CCDS6119.1	1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997392	0.02145	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-11.2	0.00127	5.6	-11.2	0.00127	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	6.4693	0.21999	0.5719:0.0725:0.2188:0.1368	.	.	.	.	C	63	.	.	R	-	1	0	0	ANK1	41680764	41680764	0.000000	0.05858	0.062000	0.19696	0.002000	0.02628	-2.265000	0.01172	-2.763000	0.00369	-0.314000	0.08810	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_020475			82	81		402	394	1		1	1		0	0	95	0		1	9.052215e-01	0	10	0	12	0	82	402
ANK1	286	broad.mit.edu	37	8	41571725	41571725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000347528.4	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000396942.1_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000289734.7_Silent_p.D583D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	583	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)			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)			GCTTGACGATGTCCAGGTTGT	0.662																																						ENST00000347528.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998912	0.990000	1.000000																										0				122						c.(1747-1749)gaC>gaT		ankyrin 1, erythrocytic							27.0	30.0	29.0					8																	41571725		2203	4300	6503	SO:0001819	synonymous_variant	286	0	0					g.chr8:41571725G>A	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.1749C>T	chr8.hg19:g.41571725G>A		0					ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000289734.7_Silent_p.D583D|ANK1_ENST00000396942.1_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D	p.D583D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	0	0	0	1.973482	P16157	ANK1_HUMAN	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)	16	1832	-	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)	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	1	1	hg19	c.1749C>T	CCDS6119.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_020475			18	18		98	97	1		1	1		0	0	22	0		9.999885e-01	8.832295e-01	0	10	0	13	0	18	98
AP3M2	10947	broad.mit.edu	37	8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	63					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488																																						ENST00000518421.1	1.000000	0.600000	1	7.300000e-01	0.890000	0.876477	0.890000	1.000000																										0				17						c.(187-189)aaG>aaT		adaptor-related protein complex 3, mu 2 subunit							90.0	89.0	90.0					8																	42012394		2203	4300	6503	SO:0001583	missense	10947	0	0					g.chr8:42012394G>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.189G>T	chr8.hg19:g.42012394G>T	ENSP00000428787:p.Lys63Asn	0					AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron	p.K63N	NM_001134296.1	NP_001127768.1	0	0	0	1.973482	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)	3	480	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	1	1	hg19	c.189G>T	CCDS6125.1	1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699415	0.30142	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.75050	-0.88;-0.88;-0.88;-0.9	5.29	5.29	0.74685	5.29	5.29	0.74685	Longin-like (1);AP complex, mu/sigma subunit (1);	0.108971	0.64402	D	0.000009	T	0.43366	0.1244	N	0.01197	-0.965	0.44309	D	0.99718	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52117	-0.8618	10	0.02654	T	1	-23.4747	14.5269	0.67894	0.0:0.1463:0.8537:0.0	.	63;63	E7ER80;P53677	.;AP3M2_HUMAN	N	63	ENSP00000428787:K63N;ENSP00000174653:K63N;ENSP00000380132:K63N;ENSP00000429435:K63N	ENSP00000174653:K63N	K	+	3	2	2	AP3M2	42131551	42131551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	2.477000	0.83638	0.555000	0.69702	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-8.391723	1	0.170000				26	23		312	307	1		1	1		0	0	59	0		9.999999e-01	9.365871e-01	0	12	0	46	0	26	312
AP3M2	10947	broad.mit.edu	37	8	42019805	42019805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	ENST00000518421.1	+	5	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	151					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCAGGAAGCACGAATGTGGGT	0.453																																						ENST00000518421.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(451-453)aCg>aTg		adaptor-related protein complex 3, mu 2 subunit							144.0	148.0	147.0					8																	42019805		2203	4300	6503	SO:0001583	missense	10947	0	0					g.chr8:42019805C>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.452C>T	chr8.hg19:g.42019805C>T	ENSP00000428787:p.Thr151Met	0					AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron	p.T151M	NM_001134296.1	NP_001127768.1	0	0	0	1.973482	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)	5	743	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	1	1	hg19	c.452C>T	CCDS6125.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460315	0.84317	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.1;-1.15	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.044642	0.85682	D	0.000000	T	0.81983	0.4938	M	0.78049	2.395	0.58432	D	0.999999	D;P	0.57571	0.98;0.951	P;P	0.46237	0.508;0.453	T	0.82281	-0.0535	10	0.37606	T	0.19	-25.2187	19.6166	0.95636	0.0:1.0:0.0:0.0	.	151;151	E7ER80;P53677	.;AP3M2_HUMAN	M	151;151;151;36;151	ENSP00000428787:T151M;ENSP00000174653:T151M;ENSP00000380132:T151M;ENSP00000430616:T36M;ENSP00000429435:T151M	ENSP00000174653:T151M	T	+	2	0	0	AP3M2	42138962	42138962	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.947000	0.49058	2.721000	0.93114	0.655000	0.94253	ACG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	0	0	1		2	2	2	0		0	0	142		142	141	1	2.060000	-20.000000	1	0.170000				180	178		800	793	0		1	1		0	0	142	0		1	9.999980e-01	0	25	0	57	0	180	800
AP3M2	10947	broad.mit.edu	37	8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	309	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527																																						ENST00000518421.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(925-927)Act>Gct		adaptor-related protein complex 3, mu 2 subunit							119.0	107.0	111.0					8																	42024803		2203	4300	6503	SO:0001583	missense	10947	0	0					g.chr8:42024803A>G	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.925A>G	chr8.hg19:g.42024803A>G	ENSP00000428787:p.Thr309Ala	0					AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron	p.T309A	NM_001134296.1	NP_001127768.1	0	0	0	1.973482	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)	8	1216	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	1	1	hg19	c.925A>G	CCDS6125.1	1	.	.	.	.	.	.	.	.	.	.	A	9.609	1.130808	0.21041	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.2	4.01	0.46588	5.2	4.01	0.46588	Clathrin adaptor, mu subunit, C-terminal (3);	0.516808	0.21762	N	0.069497	T	0.16342	0.0393	L	0.31926	0.97	0.27209	N	0.959965	B	0.02656	0.0	B	0.09377	0.004	T	0.13764	-1.0497	10	0.27785	T	0.31	0.0121	12.2915	0.54820	0.8585:0.1415:0.0:0.0	.	309	P53677	AP3M2_HUMAN	A	309;309;309;194	ENSP00000428787:T309A;ENSP00000174653:T309A;ENSP00000380132:T309A;ENSP00000430616:T194A	ENSP00000174653:T309A	T	+	1	0	0	AP3M2	42143960	42143960	0.998000	0.40836	0.612000	0.29024	0.571000	0.35966	3.360000	0.52299	0.770000	0.33336	0.533000	0.62120	ACT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				55	55		267	258	1		1	1		0	0	74	0		1	9.999760e-01	0	7	0	72	0	55	267
PLAT	5327	broad.mit.edu	37	8	42037456	42037456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42037456T>C	ENST00000220809.4	-	12	1607	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	451	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)			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)	GCCTCATGCTTGCCGTAGCCG	0.662																																						ENST00000220809.4	1.000000	0.190000	8.300000e-01	3.400000e-01	0.550000	0.583420	0.550000	1.000000																										0				27						c.(1351-1353)Aag>Gag		plasminogen activator, tissue	Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)						50.0	34.0	39.0					8																	42037456		2203	4299	6502	SO:0001583	missense	5327	0	0					g.chr8:42037456T>C		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.1351A>G	chr8.hg19:g.42037456T>C	ENSP00000220809:p.Lys451Glu	0					PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E	p.K451E	NM_000930.3	NP_000921.1	0	0	0	1.973482	P00750	TPA_HUMAN	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)	12	1607	-	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)	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	0	1	hg19	c.1351A>G	CCDS6126.1	0	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213068	0.79352	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	5.39	0.77823	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.133950	0.64402	D	0.000003	D	0.92080	0.7490	L	0.46819	1.47	0.80722	D	1	D;D;D;B;P;D	0.76494	0.995;0.999;0.999;0.259;0.817;0.998	D;D;D;P;B;D	0.80764	0.945;0.982;0.994;0.539;0.142;0.966	D	0.91523	0.5236	10	0.39692	T	0.17	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	325;362;388;451;405;451	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	E	451;451;405;388;325;362	ENSP00000392045:K451E;ENSP00000220809:K451E;ENSP00000270188:K405E;ENSP00000428886:K388E;ENSP00000407861:K325E;ENSP00000429401:K362E	ENSP00000220809:K451E	K	-	1	0	0	PLAT	42156613	42156613	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.612000	0.82975	2.168000	0.68352	0.533000	0.62120	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	0	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-7.992734	1	0.170000	NM_000930			4	4		86	86	0		1	1		0	0	19	0		8.919711e-01	9.999047e-01	0	2	0	705	0	4	86
PLAT	5327	broad.mit.edu	37	8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000220809.4	-	9	1107	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	284	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)			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)	CGTCAGCCTGCGGTTCTTCAG	0.522																																						ENST00000220809.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999873	0.990000	1.000000																										0				27						c.(850-852)cGc>cAc		plasminogen activator, tissue	Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)						100.0	80.0	86.0					8																	42039493		2203	4300	6503	SO:0001583	missense	5327	0	0					g.chr8:42039493C>T		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.851G>A	chr8.hg19:g.42039493C>T	ENSP00000220809:p.Arg284His	0					PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H	p.R284H	NM_000930.3	NP_000921.1	0	0	0	1.973482	P00750	TPA_HUMAN	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)	9	1107	-	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)	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	1	1	hg19	c.851G>A	CCDS6126.1	1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651723	0.03506	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	6.05	-0.0581	0.13798	6.05	-0.0581	0.13798	Kringle (4);Kringle-like fold (1);	0.766331	0.13192	N	0.406602	T	0.44664	0.1304	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.004	T	0.25328	-1.0135	10	0.19590	T	0.45	.	1.122	0.01727	0.3109:0.3407:0.1012:0.2473	.	158;195;284;238;284	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	H	284;284;238;221;158;195	ENSP00000392045:R284H;ENSP00000220809:R284H;ENSP00000270188:R238H;ENSP00000428886:R221H;ENSP00000407861:R158H;ENSP00000429401:R195H	ENSP00000220809:R284H	R	-	2	0	0	PLAT	42158650	42158650	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	-1.321000	0.02697	-0.307000	0.08804	-0.158000	0.13435	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-2.945093	1	0.170000	NM_000930			29	29		161	156	1		1	1		0	0	38	0		1	1	0	27	0	743	0	29	161
IKBKB	3551	broad.mit.edu	37	8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	351					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)			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)	GAGGAGGACCAGGAGCTGCTG	0.592																																						ENST00000520810.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				8						c.(1051-1053)cAg>cGg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)						86.0	78.0	81.0					8																	42174349		2203	4300	6503	SO:0001583	missense	3551	0	0					g.chr8:42174349A>G	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.1052A>G	chr8.hg19:g.42174349A>G	ENSP00000430684:p.Gln351Arg	0					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R	p.Q351R	NM_001556.2	NP_001547.1	0	0	0	1.973482	O14920	IKKB_HUMAN	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)	11	1238	+	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)	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	1	1	hg19	c.1052A>G	CCDS6128.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.289614	0.95546	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.46	5.46	0.80206	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.77313	2.365	0.80722	D	1	P;D;P;D;D;D	0.89917	0.651;0.997;0.593;0.996;0.991;1.0	B;D;B;D;D;D	0.85130	0.198;0.972;0.229;0.944;0.917;0.997	T	0.80089	-0.1528	10	0.87932	D	0	.	15.4872	0.75575	1.0:0.0:0.0:0.0	.	292;349;128;302;351;351	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	351;292;349;128	ENSP00000430684:Q351R;ENSP00000404920:Q292R;ENSP00000430868:Q349R;ENSP00000369030:Q128R	ENSP00000369030:Q128R	Q	+	2	0	0	IKBKB	42293506	42293506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.195000	0.70347	0.528000	0.53228	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	0	0	0		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				30	30		148	146	1		1	1		0	0	44	0		1	9.999637e-01	0	26	0	57	0	30	148
IKBKB	3551	broad.mit.edu	37	8	42178258	42178258	+	Silent	SNP	C	C	T	rs202131707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000379708.3_Silent_p.N305N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	528					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)			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)	ATTAGGAGAACGAAGTGAAAC	0.567																																						ENST00000520810.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1582-1584)aaC>aaT		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	C	,,	0,4406		0,0,2203	81.0	82.0	82.0		1578,1407,1584	-8.3	0.9	8		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	526/755,469/698,528/757	42178258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3551	11	121412	42				g.chr8:42178258C>T	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.1584C>T	chr8.hg19:g.42178258C>T		0					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N	p.N528N	NM_001556.2	NP_001547.1	0	0	0	1.973482	O14920	IKKB_HUMAN	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)	16	1770	+	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)	B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	1	1	hg19	c.1584C>T	CCDS6128.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000				96	94		412	409	0		1	1		0	0	91	0		1	1	0	23	0	96	0	96	412
IKBKB	3551	broad.mit.edu	37	8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	694					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)			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)	GCCCTCCACGGCCTCCAACAG	0.597																																						ENST00000520810.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(2080-2082)Gcc>Acc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)						89.0	75.0	79.0					8																	42183581		2203	4300	6503	SO:0001583	missense	3551	0	0					g.chr8:42183581G>A	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.2080G>A	chr8.hg19:g.42183581G>A	ENSP00000430684:p.Ala694Thr	0					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T	p.A694T	NM_001556.2	NP_001547.1	0	0	0	1.973482	O14920	IKKB_HUMAN	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)	20	2266	+	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)	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	1	1	hg19	c.2080G>A	CCDS6128.1	1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126295	0.06795	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75050	-0.82;-0.9;-0.72;2.92	5.59	3.82	0.43975	5.59	3.82	0.43975	.	0.700478	0.14486	N	0.316644	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.31586	-0.9938	10	0.19590	T	0.45	-19.7841	7.2678	0.26239	0.1521:0.1388:0.7091:0.0	.	635;692;471;694	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	T	694;635;692;471	ENSP00000430684:A694T;ENSP00000404920:A635T;ENSP00000430868:A692T;ENSP00000369030:A471T	ENSP00000369030:A471T	A	+	1	0	0	IKBKB	42302738	42302738	0.004000	0.15560	0.106000	0.21319	0.013000	0.08279	0.339000	0.19875	0.743000	0.32719	-0.448000	0.05591	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				67	64		261	260	1		1	1		0	0	65	0		1	1	0	23	0	85	0	67	261
POLB	5423	broad.mit.edu	37	8	42218842	42218842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42218842C>A	ENST00000265421.4	+	10	750	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	POLB_ENST00000538005.1_Missense_Mutation_p.L40I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	194					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)			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)	CATGGATGTTCTCCTGACCCA	0.423								DNA polymerases (catalytic subunits)																														ENST00000265421.4	0.670000	0.180000	5.300000e-01	2.600000e-01	0.380000	0.403334	0.380000	0.360000																										0				16						c.(580-582)Ctc>Atc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						171.0	143.0	153.0					8																	42218842		2203	4300	6503	SO:0001583	missense	5423	0	0					g.chr8:42218842C>A		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.580C>A	chr8.hg19:g.42218842C>A	ENSP00000265421:p.Leu194Ile	0					POLB_ENST00000538005.1_Missense_Mutation_p.L40I	p.L194I	NM_002690.2	NP_002681.1	0	0	0	1.973482	P06746	DPOLB_HUMAN	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)	10	750	+	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)	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	0	1	hg19	c.580C>A	CCDS6129.1	0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.86|13.86|13.86	2.363974|2.363974|2.363974	0.41902|0.41902|0.41902	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579;ENST00000517393|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005|ENST00000521290	.|T;T;T;T|.	.|0.57595|.	.|0.39;0.39;0.39;1.1|.	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|DNA-directed DNA polymerase X (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.69079|0.69079|0.69079	0.3071|0.3071|0.3071	L|L|L	0.49640|0.49640|0.49640	1.575|1.575|1.575	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.56746|.	.|0.91;0.977|.	.|P;P|.	.|0.60173|.	.|0.761;0.87|.	T|T|T	0.65417|0.65417|0.65417	-0.6173|-0.6173|-0.6173	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-11.6267|-11.6267|-11.6267	17.0639|17.0639|17.0639	0.86554|0.86554|0.86554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|194;194|.	.|Q53EV2;P06746|.	.|.;DPOLB_HUMAN|.	L|I|Y	51;9|194;40;229;40|124	.|ENSP00000265421:L194I;ENSP00000430610:L40I;ENSP00000430784:L229I;ENSP00000440497:L40I|.	.|ENSP00000265421:L194I|.	F|L|S	+|+|+	3|1|2	2|0|0	2|0|0	POLB|POLB|POLB	42337999|42337999|42337999	42337999|42337999|42337999	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.947000|0.947000|0.947000	0.38551|0.38551|0.38551	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	5.810000|5.810000|5.810000	0.69179|0.69179|0.69179	2.629000|2.629000|2.629000	0.89072|0.89072|0.89072	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTC|TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	0	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-9.128223	1	0.170000	NM_002690			8	8		244	238	0		1	1		0	0	54	0		9.884374e-01	9.736524e-01	0	13	0	184	0	8	244
DKK4	27121	broad.mit.edu	37	8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	39					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	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;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547																																						ENST00000220812.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				14						c.(115-117)Tca>Cca		dickkopf WNT signaling pathway inhibitor 4							72.0	61.0	65.0					8																	42233345		2203	4300	6503	SO:0001583	missense	27121	0	0					g.chr8:42233345A>G	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.115T>C	chr8.hg19:g.42233345A>G	ENSP00000220812:p.Ser39Pro	0						p.S39P	NM_014420.2	NP_055235.1	0	0	0	1.973482	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)	2	301	-	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;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	1	1	hg19	c.115T>C	CCDS6130.1	1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483972	0.26598	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32023	1.47	5.03	1.19	0.21007	5.03	1.19	0.21007	.	0.143817	0.32430	N	0.006120	T	0.20047	0.0482	L	0.34521	1.04	0.21473	N	0.999677	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.40728	T	0.16	-7.6035	8.0519	0.30583	0.7474:0.0:0.2526:0.0	.	39	Q9UBT3	DKK4_HUMAN	P	39	ENSP00000220812:S39P	ENSP00000220812:S39P	S	-	1	0	0	DKK4	42352502	42352502	0.596000	0.26866	0.774000	0.31636	0.596000	0.36781	1.928000	0.40104	0.023000	0.15187	0.260000	0.18958	TCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000				27	27		107	105	1		1	1		0	0	20	0		1	3.588056e-01	0	2	0	4	0	27	107
RNF170	81790	broad.mit.edu	37	8	42725169	42725169	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000534961.1	-	4	776	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q|RNF170_ENST00000527424.1_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	100					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483																																						ENST00000534961.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999959	0.990000	1.000000																										0				3						c.(298-300)acC>acA		ring finger protein 170							158.0	129.0	139.0					8																	42725169		2203	4300	6503	SO:0001819	synonymous_variant	81790	0	0					g.chr8:42725169G>T	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.300C>A	chr8.hg19:g.42725169G>T		0					RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q|RNF170_ENST00000527424.1_Silent_p.T100T	p.T100T	NM_001160223.1	NP_001153695.1	0	0	0	1.973482	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)	4	776	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Silent	SNP	ENST00000534961.1	1	1	hg19	c.300C>A	CCDS6138.1	1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725791	0.15439	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-11.3	0.00108	5.63	-11.3	0.00108	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.22591	N	0.998954	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.32370	T	0.25	-4.8576	11.8869	0.52608	0.0:0.1664:0.5815:0.2521	.	29	Q96K19-4	.	Q	29	ENSP00000325969:P29Q	ENSP00000325969:P29Q	P	-	2	0	0	RNF170	42844326	42844326	0.236000	0.23804	0.671000	0.29857	0.242000	0.25591	-0.794000	0.04584	-1.920000	0.01069	-1.085000	0.02201	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	0	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-3.162837	1	0.170000	NM_030954			28	28		137	134	0		1	1		0	0	32	0		1	9.999574e-01	0	19	0	63	0	28	137
FNTA	2339	broad.mit.edu	37	8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	115					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383																																						ENST00000302279.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(343-345)cGa>cAa		farnesyltransferase, CAAX box, alpha							194.0	182.0	186.0					8																	42919301		2203	4300	6503	SO:0001583	missense	2339	0	0					g.chr8:42919301G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.344G>A	chr8.hg19:g.42919301G>A	ENSP00000303423:p.Arg115Gln	0					FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR	p.R115Q	NM_002027.2	NP_002018.1	0	0	0	1.973482	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)	3	538	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	1	1	hg19	c.344G>A	CCDS6140.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.519814	0.96416	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88255	0.2919	9	0.87932	D	0	-14.361	15.8992	0.79359	0.0:0.0:1.0:0.0	.	24;115	A8MVX8;P49354	.;FNTA_HUMAN	Q	72;115;97;53	.	ENSP00000303423:R115Q	R	+	2	0	0	FNTA;RP11-598P20.5	43038458	43038458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	0	0	1		2	2	2	0		0	0	161		161	158	1	2.060000	-3.227509	1	0.170000	NM_002027			109	106		550	542	1		1	1		0	0	161	0		1	1	0	75	0	205	0	109	550
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000302279.3	+	6	920	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000342116.4_Silent_p.F175F|RP11-598P20.5_ENST00000534420.1_Silent_p.F199F	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	242					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393																																						ENST00000302279.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(724-726)ttC>ttT		farnesyltransferase, CAAX box, alpha							122.0	112.0	115.0					8																	42932451		2203	4300	6503	SO:0001819	synonymous_variant	2339	5	121412	39				g.chr8:42932451C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.726C>T	chr8.hg19:g.42932451C>T		0					FNTA_ENST00000342116.4_Silent_p.F175F|RP11-598P20.5_ENST00000534420.1_Silent_p.F199F|FNTA_ENST00000529687.1_Silent_p.F91F	p.F242F	NM_002027.2	NP_002018.1	0	0	0	1.973482	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)	6	920	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	1	1	hg19	c.726C>T	CCDS6140.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_002027			76	72		319	318	1		1	1		0	0	95	0		1	1	0	91	0	255	0	76	319
FNTA	2339	broad.mit.edu	37	8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000302279.3	+	9	1264	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FNTA_ENST00000529687.1_Missense_Mutation_p.R206K|FNTA_ENST00000342116.4_Missense_Mutation_p.R290K	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	357					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318																																						ENST00000302279.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				16						c.(1069-1071)aGa>aAa		farnesyltransferase, CAAX box, alpha							84.0	73.0	77.0					8																	42940355		2203	4300	6503	SO:0001583	missense	2339	0	0					g.chr8:42940355G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1070G>A	chr8.hg19:g.42940355G>A	ENSP00000303423:p.Arg357Lys	0					FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000529687.1_Missense_Mutation_p.R206K	p.R357K	NM_002027.2	NP_002018.1	0	0	0	1.973482	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)	9	1264	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	1	1	hg19	c.1070G>A	CCDS6140.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647865	0.29336	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	Protein prenyltransferase (1);	0.232665	0.46442	D	0.000291	T	0.50633	0.1627	L	0.29908	0.895	0.40310	D	0.978701	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.004	T	0.45041	-0.9288	9	0.15499	T	0.54	-12.7797	17.3299	0.87259	0.0:0.0:1.0:0.0	.	290;266;357	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	K	357;290	.	ENSP00000303423:R357K	R	+	2	0	0	FNTA	43059512	43059512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.917000	0.48821	2.703000	0.92315	0.650000	0.86243	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	1	0	1		2	2	2	0		0	0	43		43	41	1	2.060000	-20.000000	1	0.170000	NM_002027			39	39		198	192	1		1	1		0	0	43	0		1	1	0	86	0	220	0	39	198
HGSNAT	138050	broad.mit.edu	37	8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000458501.2	+	8	846	c.846G>A	c.(844-846)atG>atA	p.M282I	HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	282					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368																																						ENST00000458501.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(844-846)atG>atA		heparan-alpha-glucosaminide N-acetyltransferase							203.0	196.0	198.0					8																	43027471		1870	4091	5961	SO:0001583	missense	138050	1	120822	32				g.chr8:43027471G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.846G>A	chr8.hg19:g.43027471G>A	ENSP00000389524:p.Met282Ile	0					HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I	p.M282I			0	0	0	1.973482	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)	8	846	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	0	1	hg19	c.846G>A		1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275747	0.80580	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.95103	-3.61;-3.61;-3.03	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.043313	0.85682	D	0.000000	D	0.97216	0.9090	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97781	1.0232	10	0.87932	D	0	-37.2059	16.7067	0.85374	0.0:0.0:1.0:0.0	.	282	Q68CP4	HGNAT_HUMAN	I	282;254;1	ENSP00000389524:M282I;ENSP00000368965:M254I;ENSP00000430151:M1I	ENSP00000368965:M254I	M	+	3	0	0	HGSNAT	43146628	43146628	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.894000	0.87336	2.533000	0.85409	0.644000	0.83932	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-2.922854	1	0.170000	XM_372038			71	70		395	387	1		1	1		0	0	79	0		1	9.999992e-01	0	28	0	86	0	71	395
HGSNAT	138050	broad.mit.edu	37	8	43033296	43033296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000458501.2	+	10	1015	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	HGSNAT_ENST00000379644.4_Silent_p.L311L|HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000297798.7_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	339					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363																																						ENST00000458501.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1015-1017)Ctg>Ttg		heparan-alpha-glucosaminide N-acetyltransferase							204.0	196.0	199.0					8																	43033296		1830	4079	5909	SO:0001819	synonymous_variant	138050	0	0					g.chr8:43033296C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1015C>T	chr8.hg19:g.43033296C>T		0					HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.L311L|HGSNAT_ENST00000521576.1_5'Flank	p.L339L			0	0	0	1.973482	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)	10	1015	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	B4E2V0	Silent	SNP	ENST00000458501.2	1	1	hg19	c.1015C>T		1	.	.	.	.	.	.	.	.	.	.	C	8.619	0.890869	0.17613	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.68	1.82	0.25136	5.68	1.82	0.25136	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-2.0712	5.6173	0.17438	0.2789:0.57:0.0:0.1511	.	.	.	.	V	12	.	.	A	+	2	0	0	HGSNAT	43152453	43152453	1.000000	0.71417	0.531000	0.27976	0.919000	0.55068	1.133000	0.31430	0.057000	0.16193	-0.142000	0.14014	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000	XM_372038			128	127		601	592	1		1	1		0	0	155	0		1	1	0	15	0	113	0	128	601
PRKDC	5591	broad.mit.edu	37	8	48691355	48691356	+	Missense_Mutation	DNP	GC	GC	AT	rs568709506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G|C	A|T	G|C	G|C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355_48691356GC>AT	ENST00000314191.2	-	83	11637_11638	c.11581_11582GC>AT	c.(11581-11583)GCt>ATt	p.A3861I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			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)	AGTACGATTAGCGCCCCTATGA	0.322								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2	1.000000	0.650000|0.710000	1	9.000000e-01|9.700000e-01	0.990000	0.959846|0.974772	0.990000	1.000000																										0				147						c.(11581-11583)gCt>gTt|c.(11581-11583)Gct>Act	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide	Caffeine(DB00201)																																			SO:0001583	missense	5591	0|4	0|120756	|30				g.chr8:48691355G>A|g.chr8:48691356C>T		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.11581_11582delinsAT	chr8.hg19:g.48691355_48691356delinsAT	ENSP00000313420:p.Ala3861Ile	0					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V|PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T|PRKDC_ENST00000523565.1_5'UTR	p.A3861V|p.A3861T	NM_006904.6	NP_008835.5	0	0	0	1.973482	P78527	PRKDC_HUMAN		83	11638|11637	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	0	1	hg19	c.11582C>T|c.11581G>A		1																									5.33	5.33	0.75918																																												0			48853908|48853909														1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.322	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	19		21|19	20|18	1	2.060000	-16.501080|-7.814108	1	0.170000	NM_001081640			10|11	8|9		83|84	80|81	1|0		1	1		0	0	21|19	0		9.965576e-01|9.981930e-01	9.999712e-01|9.999908e-01	0	48	0	143|148	0	10	83
PRKDC	5591	broad.mit.edu	37	8	48701608	48701608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000314191.2	-	77	10814	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.D3586D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3587					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)			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)	CATTGCTCCAATCCTGTCAGG	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(10756-10758)gaT>gaC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide	Caffeine(DB00201)						67.0	61.0	63.0					8																	48701608		1801	4067	5868	SO:0001819	synonymous_variant	5591	0	0					g.chr8:48701608A>G		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.10758T>C	chr8.hg19:g.48701608A>G		0					PRKDC_ENST00000338368.3_Silent_p.D3586D|PRKDC_ENST00000523565.1_5'UTR	p.D3586D	NM_006904.6	NP_008835.5	0	0	0	1.973482	P78527	PRKDC_HUMAN		77	10814	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	1	1	hg19	c.10758T>C		1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_001081640			42	41		187	182	1		1	1		0	0	46	0		1	1	0	39	0	84	0	42	187
PRKDC	5591	broad.mit.edu	37	8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000314191.2	-	62	8368	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2772	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)			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)	GTAGCTTCTGTACAGAACGAC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				147						c.(8311-8313)tAc>tGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide	Caffeine(DB00201)						96.0	102.0	100.0					8																	48743248		2015	4185	6200	SO:0001583	missense	5591	0	0					g.chr8:48743248T>C		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.8312A>G	chr8.hg19:g.48743248T>C	ENSP00000313420:p.Tyr2771Cys	0					PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000523565.1_5'UTR	p.Y2771C	NM_006904.6	NP_008835.5	0	0	0	1.973482	P78527	PRKDC_HUMAN		62	8368	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	1	1	hg19	c.8312A>G		1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399114	0.83120	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.96;3.89	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.85	T	0.01405	-1.1363	10	0.87932	D	0	.	15.7828	0.78275	0.0:0.0:0.0:1.0	.	2771;2772	E7EUY0;P78527	.;PRKDC_HUMAN	C	2771	ENSP00000313420:Y2771C;ENSP00000345182:Y2771C	ENSP00000313420:Y2771C	Y	-	2	0	0	PRKDC	48905801	48905801	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.681000	0.84073	2.141000	0.66446	0.533000	0.62120	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-20.000000	1	0.170000	NM_001081640			49	47		320	312	1		1	1		0	0	62	0		1	9.999983e-01	0	32	0	99	0	49	320
PRKDC	5591	broad.mit.edu	37	8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000314191.2	-	41	5334	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1761					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)			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)	TCTGTCATCAATTCCAACAAC	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(5278-5280)Ttg>Gtg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide	Caffeine(DB00201)						113.0	108.0	110.0					8																	48790367		1859	4097	5956	SO:0001583	missense	5591	0	0					g.chr8:48790367A>C		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.5278T>G	chr8.hg19:g.48790367A>C	ENSP00000313420:p.Leu1760Val	0					PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V|PRKDC_ENST00000523565.1_5'UTR	p.L1760V	NM_006904.6	NP_008835.5	0	0	0	1.973482	P78527	PRKDC_HUMAN		41	5334	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	1	1	hg19	c.5278T>G		1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958535	0.34565	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	3.28	0.37604	5.65	3.28	0.37604	Armadillo-like helical (1);Armadillo-type fold (1);	0.082334	0.50627	D	0.000118	T	0.51312	0.1667	L	0.60455	1.87	0.48288	D	0.999628	P;B	0.35411	0.5;0.36	B;B	0.30029	0.11;0.076	T	0.40136	-0.9579	10	0.30078	T	0.28	.	8.6942	0.34284	0.7639:0.0:0.2361:0.0	.	1760;1761	E7EUY0;P78527	.;PRKDC_HUMAN	V	1760	ENSP00000313420:L1760V;ENSP00000345182:L1760V	ENSP00000313420:L1760V	L	-	1	2	2	PRKDC	48952920	48952920	0.086000	0.21541	0.867000	0.34043	0.885000	0.51271	0.440000	0.21592	0.435000	0.26365	0.477000	0.44152	TTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-20.000000	1	0.170000	NM_001081640			73	73		305	299	1		1	1		0	0	76	0		1	9.999952e-01	0	24	0	53	0	73	305
PXDNL	137902	broad.mit.edu	37	8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1324					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)			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)				AACAGGATAGCTGTATTGAGC	0.388																																						ENST00000356297.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999971	0.990000	1.000000																										0				48						c.(3970-3972)aGc>aTc		peroxidasin homolog (Drosophila)-like							147.0	138.0	141.0					8																	52258438		1924	4125	6049	SO:0001583	missense	137902	0	0					g.chr8:52258438C>A		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.3971G>T	chr8.hg19:g.52258438C>A	ENSP00000348645:p.Ser1324Ile	0					PXDNL_ENST00000543296.1_Intron	p.S1324I	NM_144651.4	NP_653252	0	0	0	1.973482	A1KZ92	PXDNL_HUMAN		20	4071	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	1	1	hg19	c.3971G>T	CCDS47855.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765638|1.765638	0.31228|0.31228	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.67698	.|-0.28	4.53|4.53	-0.773|-0.773	0.10995|0.10995	4.53|4.53	-0.773|-0.773	0.10995|0.10995	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.48016	.|0.904	.|P	.|0.46543	.|0.52	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.51188	.|T	.|0.08	.|.	6.3897|6.3897	0.21579|0.21579	0.0:0.5412:0.1284:0.3304|0.0:0.5412:0.1284:0.3304	.|.	.|1324	.|A1KZ92	.|PXDNL_HUMAN	S|I	398|1324	.|ENSP00000348645:S1324I	.|ENSP00000348645:S1324I	A|S	-|-	1|2	0|0	0|0	PXDNL|PXDNL	52420991|52420991	52420991|52420991	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.259000|-0.259000	0.08721|0.08721	-0.976000|-0.976000	0.03542|0.03542	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-18.793130	1	0.170000	NM_144651			36	35		198	198	1		1	0		0	0	55	0		1	0	0	0	0	1	0	36	198
PXDNL	137902	broad.mit.edu	37	8	52321942	52321942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	ENST00000356297.4	-	17	2342	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	748					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)			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)				CGCGCGAAGGCGGTCAGCGCC	0.736																																						ENST00000356297.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				48						c.(2242-2244)Gcc>Acc		peroxidasin homolog (Drosophila)-like							11.0	12.0	12.0					8																	52321942		1911	4099	6010	SO:0001583	missense	137902	0	0					g.chr8:52321942C>T		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.2242G>A	chr8.hg19:g.52321942C>T	ENSP00000348645:p.Ala748Thr	0					PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	p.A748T	NM_144651.4	NP_653252	0	0	0	1.973482	A1KZ92	PXDNL_HUMAN		17	2342	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	0	1	hg19	c.2242G>A	CCDS47855.1	1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745680	0.69418	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69685	-0.42;-0.42	3.71	3.71	0.42584	3.71	3.71	0.42584	.	.	.	.	.	T	0.78323	0.4265	M	0.68952	2.095	0.34599	D	0.716333	D	0.76494	0.999	D	0.68765	0.96	D	0.85349	0.1100	9	0.72032	D	0.01	.	13.2908	0.60270	0.0:1.0:0.0:0.0	.	748	A1KZ92	PXDNL_HUMAN	T	748	ENSP00000348645:A748T;ENSP00000444865:A748T	ENSP00000348645:A748T	A	-	1	0	0	PXDNL	52484495	52484495	0.992000	0.36948	0.070000	0.20053	0.020000	0.10135	2.996000	0.49449	1.779000	0.52309	0.555000	0.69702	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_144651			27	26		107	106	0		1			0	0	13	0		1	0	0	0	0	0	0	27	107
PXDNL	137902	broad.mit.edu	37	8	52323862	52323862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					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)			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)				CCCGTATCAGCTGCAGCGTGT	0.522																																						ENST00000356297.4	1.000000	0.910000	1	9.900000e-01	0.990000	0.994449	0.990000	1.000000																										0				48						c.(2008-2010)caG>caA		peroxidasin homolog (Drosophila)-like							59.0	59.0	59.0					8																	52323862		1999	4181	6180	SO:0001819	synonymous_variant	137902	0	0					g.chr8:52323862C>T		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.2010G>A	chr8.hg19:g.52323862C>T		0					PXDNL_ENST00000543296.1_Silent_p.Q670Q	p.Q670Q	NM_144651.4	NP_653252	0	0	0	1.973482	A1KZ92	PXDNL_HUMAN		16	2110	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	1	1	hg19	c.2010G>A	CCDS47855.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1		2	2	2	0		0	0	19		19	18	1	2.060000	-18.987430	1	0.170000	NM_144651			10	10		50	48	1		1	0		0	0	19	0		9.972608e-01	0	0	0	0	1	0	10	50
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			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)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				48						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96.0	90.0	92.0					8																	52384855		1837	4075	5912	SO:0001583	missense	137902	0	0					g.chr8:52384855C>T		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.704G>A	chr8.hg19:g.52384855C>T	ENSP00000348645:p.Arg235Gln	0					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252	0	0	0	1.973482	A1KZ92	PXDNL_HUMAN		8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	1	1	hg19	c.704G>A	CCDS47855.1	1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	0	PXDNL	52547408	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1		2	2	2	0		0	0	70		70	68	1	2.060000	-3.223633	1	0.170000	NM_144651			56	55		326	318	1		1			0	0	70	0		1	0	0	0	0	0	0	56	326
ST18	9705	broad.mit.edu	37	8	53071616	53071616	+	Missense_Mutation	SNP	C	C	T	rs140966554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53071616C>T	ENST00000276480.7	-	15	2331	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	550					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)			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)				TGGGTGTGGGCGCCTGCACTA	0.483													C|||	6	0.00119808	0.0038	0.0	5008	,	,		17014	0.001		0.0	False		,,,				2504	0.0					ENST00000276480.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1648-1650)Gcc>Acc		suppression of tumorigenicity 18, zinc finger		C	THR/ALA	17,4389	25.3+/-52.1	0,17,2186	86.0	94.0	91.0		1648	6.1	1.0	8	dbSNP_134	91	0,8600		0,0,4300	yes	missense	ST18	NM_014682.2	58	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	probably-damaging	550/1048	53071616	17,12989	2203	4300	6503	SO:0001583	missense	9705	56	121412	50				g.chr8:53071616C>T	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.1648G>A	chr8.hg19:g.53071616C>T	ENSP00000276480:p.Ala550Thr	0						p.A550T	NM_014682.2	NP_055497.1	0	0	0	1.973482	O60284	ST18_HUMAN		15	2331	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	1	0	hg19	c.1648G>A	CCDS6149.1	1	5	0.0022893772893772895	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	C	22.7	4.326388	0.81690	0.003858	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50001	0.76;0.76	6.07	6.07	0.98685	6.07	6.07	0.98685	Myelin transcription factor 1 (1);	0.282281	0.41294	D	0.000916	T	0.68063	0.2960	M	0.70595	2.14	0.41098	D	0.985641	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.58999	-0.7536	10	0.13470	T	0.59	-18.3711	20.6439	0.99570	0.0:1.0:0.0:0.0	.	550;550	E5RHS3;O60284	.;ST18_HUMAN	T	550	ENSP00000276480:A550T;ENSP00000428521:A550T	ENSP00000276480:A550T	A	-	1	0	0	ST18	53234169	53234169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.517000	0.53443	2.890000	0.99128	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-3.068755	1	0.170000				92	91		469	459	1		1	0		0	0	113	0		1	2.753108e-02	0	0	0	2	0	92	469
ST18	9705	broad.mit.edu	37	8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	507					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)			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)				TGGGCATCAAAACTGGCATAA	0.423																																						ENST00000276480.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1519-1521)Ttt>Gtt		suppression of tumorigenicity 18, zinc finger							210.0	202.0	205.0					8																	53074010		2203	4300	6503	SO:0001583	missense	9705	0	0					g.chr8:53074010A>C	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.1519T>G	chr8.hg19:g.53074010A>C	ENSP00000276480:p.Phe507Val	0						p.F507V	NM_014682.2	NP_055497.1	0	0	0	1.973482	O60284	ST18_HUMAN		14	2202	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	1	1	hg19	c.1519T>G	CCDS6149.1	1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047112	0.93740	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.56103	0.48;0.48	5.46	5.46	0.80206	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.047656	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D;D	0.56968	0.978;0.957	P;P	0.60473	0.875;0.855	T	0.75545	-0.3280	10	0.59425	D	0.04	-7.8199	15.8762	0.79166	1.0:0.0:0.0:0.0	.	507;507	E5RHS3;O60284	.;ST18_HUMAN	V	507	ENSP00000276480:F507V;ENSP00000428521:F507V	ENSP00000276480:F507V	F	-	1	0	0	ST18	53236563	53236563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.199000	0.70637	0.456000	0.33151	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000				116	114		532	520	1		1	0		0	0	101	0		1	1.514043e-01	0	0	0	4	0	116	532
RB1CC1	9821	broad.mit.edu	37	8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	493					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)				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)				GTACATCTGAGGAACTGTACT	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1477-1479)cCt>cAt		RB1-inducible coiled-coil 1							109.0	104.0	105.0					8																	53573722		2203	4300	6503	SO:0001583	missense	9821	0	0					g.chr8:53573722G>T	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.1478C>A	chr8.hg19:g.53573722G>T	ENSP00000025008:p.Pro493His	0					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	p.P493H	NM_014781.4	NP_055596.3	0	0	0	1.973482	Q8TDY2	RBCC1_HUMAN		10	2001	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	1	1	hg19	c.1478C>A	CCDS34892.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547625	0.65311	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76881	-0.2795	10	0.87932	D	0	-16.9857	19.4663	0.94943	0.0:0.0:1.0:0.0	.	493;493	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	493	ENSP00000025008:P493H;ENSP00000396067:P493H;ENSP00000445960:P493H	ENSP00000025008:P493H	P	-	2	0	0	RB1CC1	53736275	53736275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.781000	0.99029	2.675000	0.91044	0.650000	0.86243	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-4.117734	1	0.170000	NM_014781			106	105		357	350	1		1	1		0	0	89	0		1	1	0	17	0	79	0	106	357
RB1CC1	9821	broad.mit.edu	37	8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	430					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)				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)				ATATCTAACAGTTTTCTATGA	0.343																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1288-1290)Ctg>Atg		RB1-inducible coiled-coil 1							169.0	166.0	167.0					8																	53574165		2203	4299	6502	SO:0001583	missense	9821	0	0					g.chr8:53574165G>T	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.1288C>A	chr8.hg19:g.53574165G>T	ENSP00000025008:p.Leu430Met	0					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	p.L430M	NM_014781.4	NP_055596.3	0	0	0	1.973482	Q8TDY2	RBCC1_HUMAN		9	1811	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	1	1	hg19	c.1288C>A	CCDS34892.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092588	0.76756	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27104	1.7;1.69;1.69	5.26	4.39	0.52855	5.26	4.39	0.52855	.	0.000000	0.64402	D	0.000005	T	0.48822	0.1521	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.52290	-0.8595	10	0.72032	D	0.01	-8.4025	14.0097	0.64488	0.0732:0.0:0.9268:0.0	.	430;430	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	430	ENSP00000025008:L430M;ENSP00000396067:L430M;ENSP00000445960:L430M	ENSP00000025008:L430M	L	-	1	2	2	RB1CC1	53736718	53736718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	1.351000	0.45789	0.650000	0.86243	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_014781			96	93		401	397	1		1	1		0	0	92	0		1	9.999930e-01	0	13	0	60	0	96	401
RB1CC1	9821	broad.mit.edu	37	8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	83					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)				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)				GCAGGTGGACGATCACATAAG	0.289																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				60						c.(247-249)Cgt>Tgt		RB1-inducible coiled-coil 1							45.0	46.0	46.0					8																	53596231		2203	4299	6502	SO:0001583	missense	9821	0	0					g.chr8:53596231G>A	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.247C>T	chr8.hg19:g.53596231G>A	ENSP00000025008:p.Arg83Cys	0					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	p.R83C	NM_014781.4	NP_055596.3	0	0	0	1.973482	Q8TDY2	RBCC1_HUMAN		5	770	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	1	1	hg19	c.247C>T	CCDS34892.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.065391	0.93898	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15603	2.41;2.41;2.41	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.30001	-0.9993	10	0.72032	D	0.01	-5.836	19.3152	0.94208	0.0:0.0:1.0:0.0	.	83;83	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	83;83;83;31	ENSP00000025008:R83C;ENSP00000396067:R83C;ENSP00000445960:R83C	ENSP00000025008:R83C	R	-	1	0	0	RB1CC1	53758784	53758784	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	CGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-19.746650	1	0.170000	NM_014781			37	36		191	190	1		1	1		0	0	33	0		1	9.990699e-01	0	9	0	49	0	37	191
NPBWR1	2831	broad.mit.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657																																						ENST00000331251.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999893	0.990000	1.000000																										0				17						c.(193-195)gCg>gTg		neuropeptides B/W receptor 1							50.0	39.0	43.0					8																	53852661		2203	4300	6503	SO:0001583	missense	2831	0	0					g.chr8:53852661C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	chr8.hg19:g.53852661C>T	ENSP00000330284:p.Ala65Val	0						p.A65V	NM_005285.3	NP_005276.2	0	0	0	1.973482	P48145	NPBW1_HUMAN		1	1671	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	1	1	hg19	c.194C>T	CCDS6151.1	1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	0	NPBWR1	54015214	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_005285			30	30		167	166	1		1			0	0	41	0		1	0	0	0	0	0	0	30	167
MRPL15	29088	broad.mit.edu	37	8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	161					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393																																						ENST00000260102.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(481-483)Gaa>Aaa		mitochondrial ribosomal protein L15							114.0	103.0	106.0					8																	55055274		2203	4300	6503	SO:0001583	missense	29088	10	121412	43				g.chr8:55055274G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.481G>A	chr8.hg19:g.55055274G>A	ENSP00000260102:p.Glu161Lys	0						p.E161K	NM_014175.3	NP_054894.1	0	0	0	1.973482	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)	4	555	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	1	1	hg19	c.481G>A	CCDS6158.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.119001	0.94385	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	5.33	5.33	0.75918	Ribosomal protein L18e/L15P (2);	0.043652	0.85682	D	0.000000	T	0.40546	0.1121	N	0.03029	-0.43	0.80722	D	1	P	0.41159	0.74	P	0.50440	0.641	T	0.45527	-0.9255	9	0.30854	T	0.27	-28.0007	14.957	0.71124	0.0:0.1423:0.8577:0.0	.	161	Q9P015	RM15_HUMAN	K	161	.	ENSP00000260102:E161K	E	+	1	0	0	MRPL15	55217827	55217827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.742000	0.85008	2.652000	0.90054	0.655000	0.94253	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_014175			63	63		274	268	1		1	1		0	0	59	0		1	1	0	67	0	178	0	63	274
MRPL15	29088	broad.mit.edu	37	8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	177					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383																																						ENST00000260102.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(529-531)Gcc>Tcc		mitochondrial ribosomal protein L15							141.0	129.0	133.0					8																	55055322		2203	4300	6503	SO:0001583	missense	29088	0	0					g.chr8:55055322G>T	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.529G>T	chr8.hg19:g.55055322G>T	ENSP00000260102:p.Ala177Ser	0						p.A177S	NM_014175.3	NP_054894.1	0	0	0	1.973482	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)	4	603	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	1	1	hg19	c.529G>T	CCDS6158.1	1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353741	0.41700	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	4.39	0.52855	5.33	4.39	0.52855	Ribosomal protein L18e/L15P (1);	0.186728	0.56097	D	0.000030	T	0.45677	0.1354	N	0.20807	0.61	0.38242	D	0.941351	B	0.27450	0.179	B	0.34931	0.192	T	0.45600	-0.9250	9	0.28530	T	0.3	-27.9279	14.5839	0.68310	0.0:0.0:0.7817:0.2183	.	177	Q9P015	RM15_HUMAN	S	177	.	ENSP00000260102:A177S	A	+	1	0	0	MRPL15	55217875	55217875	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.928000	0.48908	2.652000	0.90054	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	1	0	0		2	2	2	0		0	0	89		89	88	1	2.060000	-20.000000	1	0.170000	NM_014175			75	75		339	334	1		1	1		0	0	89	0		1	1	0	111	0	227	0	75	339
MRPL15	29088	broad.mit.edu	37	8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	247					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTACCTGATATCACTAAAGAT	0.453																																						ENST00000260102.4	0.730000	0.270000	6.100000e-01	3.600000e-01	0.470000	0.492896	0.470000	0.470000																										0				10						c.(739-741)aTc>aCc		mitochondrial ribosomal protein L15							80.0	77.0	78.0					8																	55060128		2203	4300	6503	SO:0001583	missense	29088	0	0					g.chr8:55060128T>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.740T>C	chr8.hg19:g.55060128T>C	ENSP00000260102:p.Ile247Thr	0						p.I247T	NM_014175.3	NP_054894.1	0	0	0	1.973482	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)	5	814	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	1	1	hg19	c.740T>C	CCDS6158.1	0	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216259	0.58452	.	.	ENSG00000137547	ENST00000260102	T	0.65916	-0.18	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.042804	0.85682	D	0.000000	T	0.64681	0.2620	M	0.76002	2.32	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.65393	-0.6179	10	0.72032	D	0.01	-17.4903	15.3195	0.74109	0.0:0.0:0.0:1.0	.	247	Q9P015	RM15_HUMAN	T	247	ENSP00000260102:I247T	ENSP00000260102:I247T	I	+	2	0	0	MRPL15	55222681	55222681	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.872000	0.69636	2.011000	0.59026	0.528000	0.53228	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	0	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-4.334668	1	0.170000	NM_014175			15	15		355	351	0		1	1		0	0	67	0		9.998684e-01	9.998412e-01	0	34	0	322	0	15	355
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A	rs200402161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					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.A135A(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)			CCATTAGCGCGCACTCACCGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		9988	0.0		0.001	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	169						c.(403-405)gcG>gcA		retinitis pigmentosa 1 (autosomal dominant)							27.0	32.0	30.0					8																	55533931		2186	4292	6478	SO:0001819	synonymous_variant	6101	1	121012	24				g.chr8:55533931G>A	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.405G>A	chr8.hg19:g.55533931G>A		0						p.A135A	NM_006269.1	NP_006260.1	0	0	0	1.973482	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	2	553	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Silent	SNP	ENST00000220676.1	1	1	hg19	c.405G>A	CCDS6160.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-20.000000	1	0.170000	NM_006269			111	110		472	463	0		1	0		0	0	76	0		1	0	0	1	0	0	0	111	472
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					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)			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)			GATGAAAGTTCGATTCAGAAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				169						c.(1012-1014)Cga>Tga		retinitis pigmentosa 1 (autosomal dominant)							68.0	67.0	67.0					8																	55537454		2203	4300	6503	SO:0001587	stop_gained	6101	0	0					g.chr8:55537454C>T	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.1012C>T	chr8.hg19:g.55537454C>T	ENSP00000220676:p.Arg338*	0						p.R338*	NM_006269.1	NP_006260.1	0	0	0	1.973482	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	4	1160	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Nonsense_Mutation	SNP	ENST00000220676.1	0	1	hg19	c.1012C>T	CCDS6160.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	2	RP1	55700007	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1		2	2	2	0		0	0	62		62	62	1	2.060000	-3.462303	1	0.170000	NM_006269			40	39		179	173	1		1			0	0	62	0		1	0	0	0	0	0	0	40	179
RP1	6101	broad.mit.edu	37	8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	950					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)			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)			TGTAGCAATAATAGTTTTTCA	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999977	0.990000	1.000000																										0				169						c.(2848-2850)aAt>aCt		retinitis pigmentosa 1 (autosomal dominant)							43.0	46.0	45.0					8																	55539291		2203	4299	6502	SO:0001583	missense	6101	0	0					g.chr8:55539291A>C	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.2849A>C	chr8.hg19:g.55539291A>C	ENSP00000220676:p.Asn950Thr	0						p.N950T	NM_006269.1	NP_006260.1	0	0	0	1.973482	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	4	2997	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Missense_Mutation	SNP	ENST00000220676.1	1	1	hg19	c.2849A>C	CCDS6160.1	1	.	.	.	.	.	.	.	.	.	.	A	7.822	0.718019	0.15372	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	-7.84	0.01196	5.67	-7.84	0.01196	.	1.146690	0.06426	N	0.723180	T	0.34221	0.0890	L	0.43152	1.355	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.47983	-0.9074	10	0.72032	D	0.01	.	9.5623	0.39378	0.1535:0.1029:0.642:0.1016	.	950	P56715	RP1_HUMAN	T	950	ENSP00000220676:N950T	ENSP00000220676:N950T	N	+	2	0	0	RP1	55701844	55701844	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.341000	0.02647	-0.777000	0.04572	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000	NM_006269			44	43		261	255	1		1			0	0	65	0		1	0	0	0	0	0	0	44	261
RP1	6101	broad.mit.edu	37	8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1461					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)			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)			AGTGAAAGAAACATTTCAGAA	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(4381-4383)aAc>aCc		retinitis pigmentosa 1 (autosomal dominant)							50.0	54.0	53.0					8																	55540824		2202	4299	6501	SO:0001583	missense	6101	0	0					g.chr8:55540824A>C	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.4382A>C	chr8.hg19:g.55540824A>C	ENSP00000220676:p.Asn1461Thr	0						p.N1461T	NM_006269.1	NP_006260.1	0	0	0	1.973482	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	4	4530	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Missense_Mutation	SNP	ENST00000220676.1	1	1	hg19	c.4382A>C	CCDS6160.1	1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702442	0.30232	.	.	ENSG00000104237	ENST00000220676	T	0.65364	-0.15	5.48	0.271	0.15640	5.48	0.271	0.15640	.	0.461357	0.19939	N	0.102690	T	0.53562	0.1804	M	0.68952	2.095	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.50372	-0.8836	10	0.87932	D	0	-2.9732	5.6249	0.17477	0.5776:0.1383:0.2841:0.0	.	1461	P56715	RP1_HUMAN	T	1461	ENSP00000220676:N1461T	ENSP00000220676:N1461T	N	+	2	0	0	RP1	55703377	55703377	0.000000	0.05858	0.021000	0.16686	0.634000	0.38068	-0.722000	0.04958	-0.176000	0.10707	0.533000	0.62120	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000	NM_006269			73	73		263	261	1		1	0		0	0	58	0		1	4.843693e-02	0	0	0	2	0	73	263
CHCHD7	79145	broad.mit.edu	37	8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000355315.3	+	4	317	c.218G>A	c.(217-219)aGa>aAa	p.R73K	CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000523975.1_Missense_Mutation_p.R85K	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	73						mitochondrion (GO:0005739)			CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343			T	PLAG1	salivary adenoma																																	ENST00000355315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		8	8q11.2	8q11.2	79145	T	coiled-coil-helix-coiled-coil-helix domain containing 7				E	E	PLAG1		salivary adenoma	CHCHD7/PLAG1(12)	0				1						c.(217-219)aGa>aAa		coiled-coil-helix-coiled-coil-helix domain containing 7							109.0	116.0	114.0					8																	57129954		2203	4300	6503	SO:0001583	missense	79145	2	121412	36				g.chr8:57129954G>A	AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	28314	protein-coding gene	gene with protein product	"""COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	611238				20922212, 22842048	Standard	XR_428340		Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000355315.3:c.218G>A	chr8.hg19:g.57129954G>A	ENSP00000347469:p.Arg73Lys	0					CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000523975.1_Missense_Mutation_p.R85K|CHCHD7_ENST00000518801.1_3'UTR	p.R73K	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	0	0	0	1.973482	Q9BUK0	CHCH7_HUMAN	Epithelial(17;0.00159)|all cancers(17;0.0112)	4	317	+		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	A8K223|E9PBH3|J3KNE9|Q7Z588	Missense_Mutation	SNP	ENST00000355315.3	1	1	hg19	c.218G>A	CCDS34896.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.549267	0.96488	.	.	ENSG00000170791	ENST00000355315;ENST00000303759;ENST00000523975;ENST00000396723	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	.	.	.	0.53688	D	0.999979	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.48055	-0.9068	9	0.66056	D	0.02	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	73;85	Q9BUK0;Q9BUK0-2	CHCH7_HUMAN;.	K	73;98;85;82	ENSP00000347469:R73K;ENSP00000306425:R98K;ENSP00000428917:R85K;ENSP00000379949:R82K	ENSP00000306425:R98K	R	+	2	0	0	CHCHD7	57292508	57292508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.393000	0.79851	2.857000	0.98124	0.650000	0.86243	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_024300			56	54		252	247	1		1	1		0	0	44	0		1	1	0	86	0	168	0	56	252
SDR16C5	195814	broad.mit.edu	37	8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000303749.3	-	4	1199	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	188					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)			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						TTCTTACCTGCCAGCCCATTT	0.358																																						ENST00000303749.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997200	0.990000	1.000000																										0				16						c.(562-564)Gca>Aca		short chain dehydrogenase/reductase family 16C, member 5							103.0	96.0	99.0					8																	57221490		2203	4300	6503	SO:0001583	missense	195814	0	0					g.chr8:57221490C>T		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.562G>A	chr8.hg19:g.57221490C>T	ENSP00000307607:p.Ala188Thr	0					SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T	p.A188T	NM_138969.2	NP_620419.2	0	0	0	1.973482	Q8N3Y7	RDHE2_HUMAN		4	1199	-			B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	1	1	hg19	c.562G>A	CCDS6167.1	1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015572	0.19355	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.90444	-2.67;-2.45;-2.45	5.79	3.76	0.43208	5.79	3.76	0.43208	NAD(P)-binding domain (1);	0.168725	0.49916	D	0.000130	D	0.82582	0.5068	N	0.13168	0.305	0.53688	D	0.999973	B;B;B	0.27068	0.049;0.167;0.133	B;B;B	0.30943	0.074;0.053;0.122	T	0.77156	-0.2691	10	0.14252	T	0.57	.	16.4053	0.83662	0.3315:0.6685:0.0:0.0	.	144;188;188	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	144;188;188;188	ENSP00000379947:A144T;ENSP00000307607:A188T;ENSP00000431010:A188T	ENSP00000307607:A188T	A	-	1	0	0	SDR16C5	57384044	57384044	0.988000	0.35896	0.923000	0.36655	0.134000	0.20937	2.656000	0.46716	1.387000	0.46486	0.655000	0.94253	GCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.223184	1	0.170000	NM_138969			25	25		176	172	1		1	1		0	0	61	0		9.999999e-01	9.999988e-01	0	73	0	91	0	25	176
SDR16C5	195814	broad.mit.edu	37	8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000303749.3	-	2	953	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D|SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	106					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)			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						GCTACTCTATACACTCCTTCC	0.453																																						ENST00000303749.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(316-318)Tat>Gat		short chain dehydrogenase/reductase family 16C, member 5							107.0	113.0	111.0					8																	57228591		2203	4300	6503	SO:0001583	missense	195814	0	0					g.chr8:57228591A>C		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.316T>G	chr8.hg19:g.57228591A>C	ENSP00000307607:p.Tyr106Asp	0					SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D	p.Y106D	NM_138969.2	NP_620419.2	0	0	0	1.973482	Q8N3Y7	RDHE2_HUMAN		2	953	-			B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	1	1	hg19	c.316T>G	CCDS6167.1	1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174254	0.57692	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.86627	-2.15;-2.15;-2.15	5.14	5.14	0.70334	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	N	0.04116	-0.275	0.80722	D	1	P;D;D	0.89917	0.86;1.0;1.0	P;D;D	0.97110	0.535;0.995;1.0	D	0.89344	0.3656	10	0.62326	D	0.03	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	106;106;106	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	D	106	ENSP00000379947:Y106D;ENSP00000307607:Y106D;ENSP00000431010:Y106D	ENSP00000307607:Y106D	Y	-	1	0	0	SDR16C5	57391145	57391145	1.000000	0.71417	0.042000	0.18584	0.429000	0.31625	8.928000	0.92853	1.950000	0.56595	0.460000	0.39030	TAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	1	0	1		2	2	2	0		0	0	118		118	118	1	2.060000	-20.000000	1	0.170000	NM_138969			122	118		500	493	1		1	1		0	0	118	0		1	1	0	69	0	77	0	122	500
PENK	5179	broad.mit.edu	37	8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.K73N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	73					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468																																						ENST00000314922.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(217-219)aaA>aaC		proenkephalin							91.0	96.0	94.0					8																	57354416		2203	4300	6503	SO:0001583	missense	5179	0	0					g.chr8:57354416T>G		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.219A>C	chr8.hg19:g.57354416T>G	ENSP00000324248:p.Lys73Asn	0					PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	p.K73N	NM_006211.3	NP_006202.1	0	0	0	1.973482	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)	2	295	-		all_lung(136;0.229)	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	1	1	hg19	c.219A>C	CCDS6168.1	1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653120	0.29425	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.74737	-0.87;-0.87;0.86	5.94	-9.73	0.00512	5.94	-9.73	0.00512	.	0.438594	0.27627	N	0.018537	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.11179	-1.0598	10	0.46703	T	0.11	-6.257	13.5097	0.61504	0.076:0.6291:0.0:0.2949	.	73	P01210	PENK_HUMAN	N	73	ENSP00000324248:K73N;ENSP00000400894:K73N;ENSP00000428012:K73N	ENSP00000324248:K73N	K	-	3	2	2	PENK	57516970	57516970	0.025000	0.19082	0.000000	0.03702	0.735000	0.41995	-0.852000	0.04308	-2.039000	0.00917	0.459000	0.35465	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000				123	119		509	499	1		1	0		0	0	149	0		1	0	0	0	0	1	0	123	509
FAM110B	90362	broad.mit.edu	37	8	59059135	59059135	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L116M(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)				GAGGGAGAACCTGAAGCTGGA	0.662																																						ENST00000361488.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										1	Substitution - Missense(1)	p.L116M(1)	endometrium(1)	26						c.(346-348)Ctg>Ttg		family with sequence similarity 110, member B							37.0	38.0	37.0					8																	59059135		2203	4300	6503	SO:0001819	synonymous_variant	90362	0	0					g.chr8:59059135C>T	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.346C>T	chr8.hg19:g.59059135C>T		0					FAM110B_ENST00000520369.1_Intron	p.L116L	NM_147189.2	NP_671722.1	0	0	0	1.973482	Q8TC76	F110B_HUMAN		5	1226	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	1	1	hg19	c.346C>T	CCDS6170.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_147189			34	33		174	173	1		1	0		0	0	47	0		1	7.538228e-02	0	0	0	3	0	34	174
UBXN2B	137886	broad.mit.edu	37	8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	323	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393																																						ENST00000399598.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(967-969)aAc>aGc		UBX domain protein 2B							73.0	63.0	66.0					8																	59360082		1861	4108	5969	SO:0001583	missense	137886	0	0					g.chr8:59360082A>G	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.968A>G	chr8.hg19:g.59360082A>G	ENSP00000382507:p.Asn323Ser	0						p.N323S	NM_001077619.1	NP_001071087.1	0	0	0	1.973482	Q14CS0	UBX2B_HUMAN		8	1090	+			B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	1	1	hg19	c.968A>G	CCDS43741.1	1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812865	0.90707	.	.	ENSG00000215114	ENST00000399598	T	0.48522	0.81	6.08	6.08	0.98989	6.08	6.08	0.98989	UBX (3);	0.000000	0.48767	U	0.000180	T	0.68458	0.3003	M	0.76574	2.34	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.70757	-0.4785	10	0.56958	D	0.05	-24.3636	15.2149	0.73258	1.0:0.0:0.0:0.0	.	323	Q14CS0	UBX2B_HUMAN	S	323	ENSP00000382507:N323S	ENSP00000382507:N323S	N	+	2	0	0	UBXN2B	59522636	59522636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.304000	0.89958	2.333000	0.79357	0.533000	0.62120	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_001077619			54	54		247	244	1		1	1		0	0	52	0		1	9.964596e-01	0	13	0	29	0	54	247
CYP7A1	1581	broad.mit.edu	37	8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					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)			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)				GTAGTCTTTGTCTTCCCGTTT	0.343									Neonatal Giant Cell Hepatitis																													ENST00000301645.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1255-1257)Aca>Gca		cytochrome P450, family 7, subfamily A, polypeptide 1							102.0	112.0	109.0					8																	59404294		2203	4300	6503	SO:0001583	missense	1581	0	0		Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	g.chr8:59404294T>C	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.1255A>G	chr8.hg19:g.59404294T>C	ENSP00000301645:p.Thr419Ala	0						p.T419A	NM_000780.3	NP_000771.2	0	0	0	1.973482	P22680	CP7A1_HUMAN		6	1392	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	1	1	hg19	c.1255A>G	CCDS6171.1	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783800	0.31593	.	.	ENSG00000167910	ENST00000301645	T	0.60040	0.22	5.76	-1.34	0.09143	5.76	-1.34	0.09143	.	0.298471	0.40469	N	0.001089	T	0.27866	0.0686	N	0.11201	0.11	0.26376	N	0.976803	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.12430	T	0.62	-3.4054	6.8926	0.24238	0.0:0.4527:0.2615:0.2858	.	419	P22680	CP7A1_HUMAN	A	419	ENSP00000301645:T419A	ENSP00000301645:T419A	T	-	1	0	0	CYP7A1	59566848	59566848	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	2.557000	0.45871	-0.052000	0.13311	0.533000	0.62120	ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_000780			126	124		502	498	1		1	0		0	0	113	0		1	0	0	0	0	1	0	126	502
NSMAF	8439	broad.mit.edu	37	8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	448	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)			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)				CCATAGAATTCTGGAATTAAC	0.398																																						ENST00000038176.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				38						c.(1342-1344)Gaa>Taa		neutral sphingomyelinase (N-SMase) activation associated factor							79.0	80.0	80.0					8																	59512420		2203	4300	6503	SO:0001587	stop_gained	8439	0	0					g.chr8:59512420C>A	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.1342G>T	chr8.hg19:g.59512420C>A	ENSP00000038176:p.Glu448*	0					NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*|NSMAF_ENST00000519858.1_5'Flank	p.E448*	NM_003580.3	NP_003571.2	0	0	0	1.973482	Q92636	FAN_HUMAN		18	1554	-		all_lung(136;0.174)|Lung NSC(129;0.2)	B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	0	1	hg19	c.1342G>T	CCDS6173.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.373231	0.98781	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	448;479	.	.	E	-	1	0	0	NSMAF	59674974	59674974	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_003580			50	48		280	273	1		1	0		0	0	57	0		1	9.989370e-01	0	0	0	60	0	50	280
TOX	9760	broad.mit.edu	37	8	59739462	59739462	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59739462C>A	ENST00000361421.1	-	6	1145		c.e6-1			NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box							nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				TTTTATAGACCTGCAACAACA	0.403																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1	0.930000	0.210000	7.100000e-01	3.300000e-01	0.500000	0.528101	0.500000	0.460000																										0				33						c.e6-1		thymocyte selection-associated high mobility group box							105.0	87.0	93.0					8																	59739462		2203	4300	6503	SO:0001630	splice_region_variant	9760	0	0					g.chr8:59739462C>A		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.925-1G>T	chr8.hg19:g.59739462C>A		0							NM_014729.2	NP_055544.1	0	0	0	1.973482	O94900	TOX_HUMAN		6	1145	-		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)	Q96AV5	Splice_Site	SNP	ENST00000361421.1	0	1	hg19		CCDS34897.1	0	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027275	0.93518	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TOX	59902016	59902016	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.794000	0.85869	2.751000	0.94390	0.650000	0.86243	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-8.680343	1	0.170000	NM_014729	Intron		6	6		140	135	0		1			0	0	34	0		9.620844e-01	0	0	0	0	0	0	6	140
RAB2A	5862	broad.mit.edu	37	8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378																																						ENST00000262646.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(199-201)tCc>tTc		RAB2A, member RAS oncogene family							139.0	142.0	141.0					8																	61496780		2203	4300	6503	SO:0001583	missense	5862	0	0					g.chr8:61496780C>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.200C>T	chr8.hg19:g.61496780C>T	ENSP00000262646:p.Ser67Phe	0					RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000530071.1_3'UTR	p.S67F	NM_002865.2	NP_002856.1	0	0	0	1.973482	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)	4	551	+			B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	1	1	hg19	c.200C>T	CCDS6175.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.170618	0.94807	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.77620	-1.11;-1.11;-1.11	5.97	5.97	0.96955	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.048123	0.85682	D	0.000000	D	0.88351	0.6413	M	0.76002	2.32	0.80722	D	1	D;D	0.57899	0.979;0.981	P;D	0.67548	0.9;0.952	D	0.88331	0.2968	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	43;67	B4DMQ5;P61019	.;RAB2A_HUMAN	F	67;43;67;21	ENSP00000262646:S67F;ENSP00000431846:S43F;ENSP00000431589:S67F	ENSP00000262646:S67F	S	+	2	0	0	RAB2A	61659334	61659334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2	1	0	1		2	2	2	0		0	0	132		132	128	1	2.060000	-3.322253	1	0.170000				98	97		510	495	1		1	1		0	0	132	0		1	1	0	195	0	479	0	98	510
CHD7	55636	broad.mit.edu	37	8	61729060	61729060	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Splice_Site_p.E871E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	871			E -> D (in CHARGES). {ECO:0000269|PubMed:21158681}.		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.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)			TCCTTTCAGAGGTACGACATA	0.323																																						ENST00000423902.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994107	0.990000	1.000000																										1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	123						c.(2611-2613)gaG>gaA		chromodomain helicase DNA binding protein 7							56.0	50.0	51.0					8																	61729060		1812	4074	5886	SO:0001630	splice_region_variant	55636	0	0					g.chr8:61729060G>A	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.2613+1G>A	chr8.hg19:g.61729060G>A		0					CHD7_ENST00000525508.1_Splice_Site_p.E871E|CHD7_ENST00000524602.1_Intron	p.E871E	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	8	3092	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Splice_Site	SNP	ENST00000423902.2	0	1	hg19	c.2613G>A	CCDS47865.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-19.665260	1	0.170000	XM_098762	Silent		11	11		60	60	0		1	0		0	0	9	0		9.987863e-01	1.960447e-01	0	1	0	4	0	11	60
CHD7	55636	broad.mit.edu	37	8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N964H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	964					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)			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)			GGAGTATAAAAACAATAACAA	0.378																																						ENST00000423902.2	1.000000	0.700000	1	8.800000e-01	0.990000	0.959100	0.990000	1.000000																										0				123						c.(2890-2892)Aac>Cac		chromodomain helicase DNA binding protein 7							68.0	66.0	67.0					8																	61734637		1828	4080	5908	SO:0001583	missense	55636	0	0					g.chr8:61734637A>C	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.2890A>C	chr8.hg19:g.61734637A>C	ENSP00000392028:p.Asn964His	0					CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	p.N964H	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	11	3369	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	1	1	hg19	c.2890A>C	CCDS47865.1	1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671091	0.88348	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	5.52	5.52	0.82312	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.70595	2.14	0.80722	D	1	P;B	0.40050	0.7;0.103	P;B	0.48627	0.584;0.094	D	0.95226	0.8338	10	0.87932	D	0	-24.6046	15.9347	0.79694	1.0:0.0:0.0:0.0	.	964;964	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	H	964	ENSP00000392028:N964H;ENSP00000436027:N964H	ENSP00000307304:N964H	N	+	1	0	0	CHD7	61897191	61897191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.221000	0.72209	0.528000	0.53228	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-9.199869	1	0.170000	XM_098762			21	20		201	197	0		1	1		0	0	52	0		9.999977e-01	2.951422e-01	0	3	0	8	0	21	201
CHD7	55636	broad.mit.edu	37	8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1311	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)			CAGGGTGCTTATCTTTTCCCA	0.473																																						ENST00000423902.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999843	0.990000	1.000000																										0				123						c.(3931-3933)Atc>Gtc		chromodomain helicase DNA binding protein 7							69.0	68.0	68.0					8																	61748784		2023	4194	6217	SO:0001583	missense	55636	0	0					g.chr8:61748784A>G	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.3931A>G	chr8.hg19:g.61748784A>G	ENSP00000392028:p.Ile1311Val	0					CHD7_ENST00000524602.1_Intron	p.I1311V	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	16	4410	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	1	1	hg19	c.3931A>G	CCDS47865.1	1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699147	0.48307	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75154	-0.91	5.8	5.8	0.92144	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.066717	0.64402	D	0.000007	T	0.66867	0.2833	L	0.35593	1.075	0.58432	D	0.999999	B	0.32425	0.371	B	0.32393	0.145	T	0.68372	-0.5426	10	0.59425	D	0.04	-16.4397	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1311	Q9P2D1	CHD7_HUMAN	V	1311	ENSP00000392028:I1311V	ENSP00000307304:I1311V	I	+	1	0	0	CHD7	61911338	61911338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.209000	0.71365	0.533000	0.62120	ATC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	XM_098762			24	24		122	121	1		1	0		0	0	46	0		9.999998e-01	4.004560e-01	0	1	0	7	0	24	122
CHD7	55636	broad.mit.edu	37	8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1428	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)			TTCGACAAGGCTAGTTTGAAA	0.423																																						ENST00000423902.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999892	0.990000	1.000000																										0				123						c.(4282-4284)gCt>gAt		chromodomain helicase DNA binding protein 7							57.0	54.0	55.0					8																	61750324		1831	4076	5907	SO:0001583	missense	55636	0	0					g.chr8:61750324C>A	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.4283C>A	chr8.hg19:g.61750324C>A	ENSP00000392028:p.Ala1428Asp	0					CHD7_ENST00000524602.1_Intron	p.A1428D	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	18	4762	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	1	1	hg19	c.4283C>A	CCDS47865.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.307885	0.95629	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77358	-1.09	5.83	5.83	0.93111	5.83	5.83	0.93111	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.96489	3.83	0.80722	D	1	D	0.56035	0.974	D	0.74348	0.983	D	0.94000	0.7274	10	0.87932	D	0	-15.5774	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1428	Q9P2D1	CHD7_HUMAN	D	1428	ENSP00000392028:A1428D	ENSP00000307304:A1428D	A	+	2	0	0	CHD7	61912878	61912878	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	XM_098762			21	19		92	90	1		1	0		0	0	25	0		9.999983e-01	4.666029e-01	0	1	0	7	0	21	92
CHD7	55636	broad.mit.edu	37	8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2372					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)			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)			GGTCGGCCAAGCCAGCATTAG	0.512																																						ENST00000423902.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				123						c.(7114-7116)Gcc>Tcc		chromodomain helicase DNA binding protein 7							35.0	36.0	36.0					8																	61768711		1974	4174	6148	SO:0001583	missense	55636	0	0					g.chr8:61768711G>T	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.7114G>T	chr8.hg19:g.61768711G>T	ENSP00000392028:p.Ala2372Ser	0					CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	p.A2372S	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	33	7593	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	1	1	hg19	c.7114G>T	CCDS47865.1	1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318603	0.23994	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.94	4.13	0.48395	5.94	4.13	0.48395	.	0.071226	0.56097	D	0.000031	T	0.26412	0.0645	N	0.20685	0.6	0.34300	D	0.68418	B	0.16603	0.018	B	0.16722	0.016	T	0.25882	-1.0119	10	0.15066	T	0.55	-5.4239	11.7828	0.52023	0.0662:0.1237:0.8102:0.0	.	2372	Q9P2D1	CHD7_HUMAN	S	2372	ENSP00000392028:A2372S	ENSP00000307304:A2372S	A	+	1	0	0	CHD7	61931265	61931265	1.000000	0.71417	0.301000	0.25044	0.853000	0.48598	4.289000	0.59013	0.825000	0.34637	0.563000	0.77884	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	XM_098762			16	16		48	47	1		1	1		0	0	14	0		9.999677e-01	8.869138e-01	0	4	0	10	0	16	48
CHD7	55636	broad.mit.edu	37	8	61777910	61777910	+	Silent	SNP	G	G	A	rs200747690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	ENST00000423902.2	+	38	8891	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_ENST00000524602.1_Silent_p.A755A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2804					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)			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)			CAGGAATGGCGGGCCTGCCCA	0.607																																						ENST00000423902.2	0.970000	0.160000	7.200000e-01	2.900000e-01	0.470000	0.507876	0.470000	1.000000																										0				123						c.(8410-8412)gcG>gcA		chromodomain helicase DNA binding protein 7		G		0,4020		0,0,2010	22.0	26.0	24.0		8412	-8.1	0.9	8		24	1,8345		0,1,4172	no	coding-synonymous	CHD7	NM_017780.3		0,1,6182	AA,AG,GG		0.012,0.0,0.0081		2804/2998	61777910	1,12365	2010	4173	6183	SO:0001819	synonymous_variant	55636	17	120848	41				g.chr8:61777910G>A	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.8412G>A	chr8.hg19:g.61777910G>A		0					CHD7_ENST00000524602.1_Silent_p.A755A	p.A2804A	NM_017780.3	NP_060250.2	0	0	0	1.973482	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)	38	8891	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	0	1	hg19	c.8412G>A	CCDS47865.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	0	1		2	2	2	0		0	0	34		34	29	1	2.060000	-7.014462	1	0.170000	XM_098762			4	4		102	91	0		1	0		0	0	34	0		8.639944e-01	2.390930e-01	0	0	0	20	0	4	102
CLVS1	157807	broad.mit.edu	37	8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453																																						ENST00000519846.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(46-48)tgG>tgT		clavesin 1							58.0	57.0	57.0					8																	62212434		2203	4300	6503	SO:0001583	missense	157807	0	0					g.chr8:62212434G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.48G>T	chr8.hg19:g.62212434G>T	ENSP00000428402:p.Trp16Cys	0					CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|RP11-787D18.1_ENST00000521801.1_RNA	p.W16C			0	0	0	1.973482	Q8IUQ0	CLVS1_HUMAN		3	520	+			B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	1	1	hg19	c.48G>T	CCDS6176.1	1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171922	0.21704	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79247	-1.25;-1.25	5.79	1.84	0.25277	5.79	1.84	0.25277	.	0.842461	0.10876	N	0.624284	T	0.67163	0.2864	L	0.29908	0.895	0.58432	D	0.999995	P;P;P	0.50156	0.844;0.9;0.932	B;B;B	0.43783	0.22;0.431;0.321	T	0.60586	-0.7234	10	0.35671	T	0.21	4.8743	9.1951	0.37224	0.1096:0.2314:0.659:0.0	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	16	ENSP00000428402:W16C;ENSP00000325506:W16C	ENSP00000325506:W16C	W	+	3	0	0	CLVS1	62374988	62374988	1.000000	0.71417	0.293000	0.24932	0.595000	0.36748	3.253000	0.51469	0.741000	0.32674	-0.176000	0.13171	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_173519			40	40		183	179	1		1			0	0	36	0		1	0	0	0	0	0	0	40	183
ASPH	444	broad.mit.edu	37	8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000379454.4	-	21	1924	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	579					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)			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)	AGCCCGTTTCTTTTGGGGTCC	0.433																																						ENST00000379454.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1735-1737)aaA>aaC		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						182.0	157.0	166.0					8																	62460657		2203	4300	6503	SO:0001583	missense	444	0	0					g.chr8:62460657T>G	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.1737A>C	chr8.hg19:g.62460657T>G	ENSP00000368767:p.Lys579Asn	0					ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	p.K579N	NM_004318.3	NP_004309.2	0	0	0	1.973482	Q12797	ASPH_HUMAN		21	1924	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	1	1	hg19	c.1737A>C	CCDS34898.1	1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799417	0.50208	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.33654	1.41;1.4	5.69	-7.0	0.01599	5.69	-7.0	0.01599	.	0.258295	0.43416	D	0.000564	T	0.23727	0.0574	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.48694	0.11;0.914	B;B	0.38296	0.066;0.27	T	0.34304	-0.9834	10	0.59425	D	0.04	-11.8603	11.6338	0.51192	0.093:0.6261:0.0:0.2809	.	550;579	F5H667;Q12797	.;ASPH_HUMAN	N	550;579	ENSP00000437864:K550N;ENSP00000368767:K579N	ENSP00000368767:K579N	K	-	3	2	2	ASPH	62623211	62623211	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.637000	0.02015	-1.314000	0.02300	0.528000	0.53228	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-20.000000	1	0.170000	NM_004318			141	140		583	573	1		1	1		0	0	97	0		1	1	0	65	0	195	0	141	583
ASPH	444	broad.mit.edu	37	8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000379454.4	-	20	1792	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	535					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)			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)	CAACCCTCTGCATGGCATCCC	0.413																																						ENST00000379454.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1603-1605)atG>atA		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						217.0	236.0	230.0					8																	62465611		2203	4300	6503	SO:0001583	missense	444	0	0					g.chr8:62465611C>T	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.1605G>A	chr8.hg19:g.62465611C>T	ENSP00000368767:p.Met535Ile	0					ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	p.M535I	NM_004318.3	NP_004309.2	0	0	0	1.973482	Q12797	ASPH_HUMAN		20	1792	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	1	1	hg19	c.1605G>A	CCDS34898.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345436	0.61073	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.29917	1.56;1.55	5.73	5.73	0.89815	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.122777	0.56097	D	0.000023	T	0.21550	0.0519	N	0.14661	0.345	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29785	0.107;0.05	T	0.05835	-1.0861	10	0.54805	T	0.06	-21.9674	15.0308	0.71705	0.0:0.9303:0.0:0.0697	.	506;535	F5H667;Q12797	.;ASPH_HUMAN	I	506;535	ENSP00000437864:M506I;ENSP00000368767:M535I	ENSP00000368767:M535I	M	-	3	0	0	ASPH	62628165	62628165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.700000	0.92200	0.655000	0.94253	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	0	0	1		17	5	2	1		1	1	298		298	293	1	2.060000	-20.000000	1	0.170000	NM_004318			242	237		1121	1096	1		1	1		1	0	298	0		1	1	0	50	0	202	0	242	1121
NKAIN3	286183	broad.mit.edu	37	8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493																																						ENST00000523211.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999910	0.990000	1.000000																										0				13						c.(403-405)Gtc>Atc		Na+/K+ transporting ATPase interacting 3							124.0	125.0	125.0					8																	63659620		2082	4217	6299	SO:0001583	missense	286183	0	0					g.chr8:63659620G>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.403G>A	chr8.hg19:g.63659620G>A	ENSP00000429073:p.Val135Ile	0					NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I	p.V135I	NM_173688.2	NP_775959.1	0	0	0	1.973482	Q8N8D7	NKAI3_HUMAN		4	535	+	Breast(64;0.127)	Lung NSC(129;0.187)		Missense_Mutation	SNP	ENST00000523211.1	1	1	hg19	c.403G>A	CCDS55239.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309719	0.60414	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.15256	2.44;2.44	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.20618	0.0496	L	0.55103	1.725	0.44395	D	0.997307	P	0.39443	0.674	B	0.36418	0.224	T	0.01390	-1.1367	10	0.46703	T	0.11	-20.8503	18.3654	0.90389	0.0:0.0:1.0:0.0	.	135	Q8N8D7	NKAI3_HUMAN	I	135	ENSP00000429073:V135I;ENSP00000333627:V135I	ENSP00000333627:V135I	V	+	1	0	0	NKAIN3	63822174	63822174	1.000000	0.71417	0.954000	0.39281	0.744000	0.42396	6.307000	0.72815	2.583000	0.87209	0.650000	0.86243	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	1	0	1		2	2	2	0		0	0	37		37	36	1	2.060000	-15.799030	1	0.170000	NM_173688			26	26		131	131	1		1			0	0	37	0		1	0	0	0	0	0	0	26	131
GGH	8836	broad.mit.edu	37	8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	316	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TTCAATCAAATATGTAACATT	0.299																																						ENST00000260118.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995252	0.990000	1.000000																										0				11						c.(946-948)atA>atG		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|Methotrexate(DB00563)						53.0	53.0	53.0					8																	63927900		2196	4291	6487	SO:0001583	missense	8836	0	0					g.chr8:63927900T>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.948A>G	chr8.hg19:g.63927900T>C	ENSP00000260118:p.Ile316Met	0					RP11-659E9.2_ENST00000524309.1_RNA	p.I316M	NM_003878.2	NP_003869.1	0	0	0	1.973482	Q92820	GGH_HUMAN		9	1350	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)		Missense_Mutation	SNP	ENST00000260118.6	1	1	hg19	c.948A>G	CCDS6177.1	1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043502	0.36085	.	.	ENSG00000137563	ENST00000260118	T	0.44881	0.91	5.74	-6.28	0.02020	5.74	-6.28	0.02020	.	0.447666	0.28093	N	0.016622	T	0.17152	0.0412	N	0.25031	0.7	0.27732	N	0.944785	B	0.22276	0.067	B	0.20184	0.028	T	0.03795	-1.1003	10	0.35671	T	0.21	-16.6356	1.2416	0.01964	0.3572:0.2029:0.3014:0.1386	.	316	Q92820	GGH_HUMAN	M	316	ENSP00000260118:I316M	ENSP00000260118:I316M	I	-	3	3	3	GGH	64090454	64090454	0.986000	0.35501	0.811000	0.32455	0.959000	0.62525	0.101000	0.15251	-0.758000	0.04690	0.528000	0.53228	ATA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				12	12		66	66	1		1	1		0	0	31	0		9.993746e-01	9.981311e-01	0	16	0	49	0	12	66
BHLHE22	27319	broad.mit.edu	37	8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	242	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1	1.000000	0.550000	1	7.800000e-01	0.990000	0.923415	0.990000	1.000000																										0				5						c.(724-726)gCg>gTg		basic helix-loop-helix family, member e22							14.0	16.0	16.0					8																	65494072		2189	4297	6486	SO:0001583	missense	27319	0	0					g.chr8:65494072C>T	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.725C>T	chr8.hg19:g.65494072C>T	ENSP00000318799:p.Ala242Val	0					RP11-21C4.1_ENST00000517909.1_RNA	p.A242V	NM_152414.4	NP_689627.1	0	0	0	1.973482	Q8NFJ8	BHE22_HUMAN		1	1259	+				Missense_Mutation	SNP	ENST00000321870.1	0	1	hg19	c.725C>T	CCDS6179.1	1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965507	0.18583	.	.	ENSG00000180828	ENST00000321870	T	0.80304	-1.36	4.02	3.13	0.36017	4.02	3.13	0.36017	Helix-loop-helix DNA-binding (2);	0.803881	0.10963	U	0.614705	T	0.66470	0.2792	N	0.17631	0.505	0.28152	N	0.929339	P	0.41041	0.736	B	0.32928	0.155	T	0.56679	-0.7939	10	0.46703	T	0.11	0.9187	13.2565	0.60081	0.0:0.8386:0.1614:0.0	.	242	Q8NFJ8	BHE22_HUMAN	V	242	ENSP00000318799:A242V	ENSP00000318799:A242V	A	+	2	0	0	BHLHE22	65656626	65656626	0.950000	0.32346	1.000000	0.80357	0.399000	0.30720	1.823000	0.39062	0.851000	0.35264	-0.502000	0.04539	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-15.111670	1	0.170000	NM_152414			9	9		87	87	0		1	0		0	0	16	0		9.949614e-01	1.133787e-02	0	0	0	2	0	9	87
ARMC1	55156	broad.mit.edu	37	8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	14					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423																																						ENST00000276569.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(40-42)Gct>Act		armadillo repeat containing 1							134.0	124.0	127.0					8																	66539594		2203	4300	6503	SO:0001583	missense	55156	0	0					g.chr8:66539594C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.40G>A	chr8.hg19:g.66539594C>T	ENSP00000276569:p.Ala14Thr	0					ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	p.A14T	NM_018120.4	NP_060590.1	0	0	0	1.973482	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)	2	284	-			B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	1	1	hg19	c.40G>A	CCDS6181.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548034	0.86022	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.36378	0.223	T	0.60870	-0.7177	10	0.59425	D	0.04	.	19.6375	0.95740	0.0:1.0:0.0:0.0	.	14	Q9NVT9	ARMC1_HUMAN	T	14	ENSP00000276569:A14T;ENSP00000429191:A14T;ENSP00000429715:A14T	ENSP00000276569:A14T	A	-	1	0	0	ARMC1	66702148	66702148	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.474000	0.81024	2.640000	0.89533	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_018120			96	96		430	425	1		1	1		0	0	93	0		1	1	0	29	0	83	0	96	430
MTFR1	9650	broad.mit.edu	37	8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	179	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438																																						ENST00000262146.4	1.000000	0.650000	1	7.900000e-01	0.940000	0.912084	0.940000	1.000000																										0				11						c.(535-537)aCa>aTa		mitochondrial fission regulator 1							89.0	91.0	90.0					8																	66619263		2200	4299	6499	SO:0001583	missense	9650	0	0					g.chr8:66619263C>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.536C>T	chr8.hg19:g.66619263C>T	ENSP00000262146:p.Thr179Ile	0					MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I|MTFR1_ENST00000517944.1_3'UTR	p.T179I	NM_014637.3	NP_055452.3	0	0	0	1.973482	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)	6	662	+			E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	1	1	hg19	c.536C>T	CCDS6182.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.510237|1.510237	0.27036|0.27036	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.49432	.|0.78;0.78	5.49|5.49	2.42|2.42	0.29668|0.29668	5.49|5.49	2.42|2.42	0.29668|0.29668	.|.	.|0.976929	.|0.08443	.|N	.|0.945124	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17465	.|0.022;0.004;0.002;0.005	.|B;B;B;B	.|0.20384	.|0.029;0.014;0.002;0.011	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.36615	.|T	.|0.2	0.3655|0.3655	7.3468|7.3468	0.26668|0.26668	0.0:0.5859:0.3241:0.09|0.0:0.5859:0.3241:0.09	.|.	.|179;163;146;179	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	Y|I	137|163;179;146	.|ENSP00000262146:T179I;ENSP00000391502:T146I	.|ENSP00000262146:T179I	H|T	+|+	1|2	0|0	0|0	MTFR1|MTFR1	66781817|66781817	66781817|66781817	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.650000|0.650000	0.38633|0.38633	0.112000|0.112000	0.15479|0.15479	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	CAT|ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_014637			29	29		326	309	0		1	1		0	0	60	0		1	9.003492e-01	0	9	0	38	0	29	326
DNAJC5B	85479	broad.mit.edu	37	8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	85						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTACGGATCGCTGGGACTC	0.463																																						ENST00000276570.5	0.550000	0.250000	4.700000e-01	3.100000e-01	0.380000	0.393633	0.380000	0.380000																										0				20						c.(253-255)tCg>tTg		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							189.0	157.0	168.0					8																	66989029		2203	4300	6503	SO:0001583	missense	85479	0	0					g.chr8:66989029C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.254C>T	chr8.hg19:g.66989029C>T	ENSP00000276570:p.Ser85Leu	0					DNAJC5B_ENST00000519330.1_3'UTR	p.S85L	NM_033105.4	NP_149096.2	0	0	0	1.973482	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)	4	541	+		Lung NSC(129;0.114)|all_lung(136;0.188)	Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	1	1	hg19	c.254C>T	CCDS6183.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.333965	0.95758	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72725	-0.68;-0.68	5.73	5.73	0.89815	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88780	0.3270	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	85	Q9UF47	DNJ5B_HUMAN	L	85	ENSP00000276570:S85L;ENSP00000430196:S85L	ENSP00000276570:S85L	S	+	2	0	0	DNAJC5B	67151583	67151583	1.000000	0.71417	0.964000	0.40570	0.818000	0.46254	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	0	0	1		2	2	2	0		0	0	178		178	175	1	2.060000	-3.107349	1	0.170000	NM_033105			24	24		707	693	0		1	0		0	0	178	0		9.999996e-01	4.517726e-01	0	0	0	45	0	24	707
TRIM55	84675	broad.mit.edu	37	8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	63					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)			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)			CCCGTATTTGCCCACAAGAGG	0.478																																						ENST00000315962.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(187-189)Ccc>Tcc		tripartite motif containing 55							111.0	111.0	111.0					8																	67040557		2203	4300	6503	SO:0001583	missense	84675	0	0					g.chr8:67040557C>T	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.187C>T	chr8.hg19:g.67040557C>T	ENSP00000323913:p.Pro63Ser	0					TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S	p.P63S	NM_184085.1	NP_908973.1	0	0	0	1.973482	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)	2	560	+		Lung NSC(129;0.138)|all_lung(136;0.221)	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	1	1	hg19	c.187C>T	CCDS6184.1	1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983031	0.53827	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.45;1.51;1.46;1.08	5.67	5.67	0.87782	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.047540	0.85682	D	0.000000	T	0.25531	0.0621	N	0.02916	-0.46	0.47153	D	0.999333	B;B;B;B	0.21688	0.021;0.059;0.012;0.01	B;B;B;B	0.23150	0.039;0.018;0.044;0.037	T	0.10154	-1.0642	10	0.41790	T	0.15	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	63;63;63;63	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	63	ENSP00000323913:P63S;ENSP00000297348:P63S;ENSP00000276573:P63S;ENSP00000332302:P63S	ENSP00000276573:P63S	P	+	1	0	0	TRIM55	67203111	67203111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.660000	0.90430	0.650000	0.86243	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	1	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-3.333226	1	0.170000	NM_184085			98	98		481	471	1		1	0		0	0	121	0		1	0	0	0	0	1	0	98	481
ADHFE1	137872	broad.mit.edu	37	8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	73					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)			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)			AACATGGGTGCTAAAAATGTG	0.423																																						ENST00000396623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(217-219)gCt>gTt		alcohol dehydrogenase, iron containing, 1							181.0	174.0	176.0					8																	67356848		2203	4300	6503	SO:0001583	missense	137872	0	0					g.chr8:67356848C>T	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.218C>T	chr8.hg19:g.67356848C>T	ENSP00000379865:p.Ala73Val	0					ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V	p.A73V	NM_144650.2	NP_653251.2	0	0	0	1.973482	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)	5	249	+		Lung NSC(129;0.197)	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	1	1	hg19	c.218C>T	CCDS6190.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.291775	0.95546	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.78	5.78	0.91487	5.78	5.78	0.91487	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48935	1.535	0.80722	D	1	B	0.27700	0.186	B	0.33121	0.158	T	0.22730	-1.0208	10	0.38643	T	0.18	-0.8193	20.0215	0.97504	0.0:1.0:0.0:0.0	.	73	Q8IWW8	HOT_HUMAN	V	8;73;73;25	ENSP00000428055:A8V;ENSP00000368695:A73V;ENSP00000379865:A73V;ENSP00000407115:A25V	ENSP00000368695:A73V	A	+	2	0	0	ADHFE1	67519402	67519402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.743000	0.94032	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	0	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	NM_144650			133	131		625	614	1		1	1		0	0	156	0		1	7.983490e-01	0	5	0	11	0	133	625
ADHFE1	137872	broad.mit.edu	37	8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	288					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)			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)			CCACGCGCTGCGGATCGTGGC	0.567																																						ENST00000396623.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(862-864)Cgg>Tgg		alcohol dehydrogenase, iron containing, 1							99.0	81.0	87.0					8																	67364315		2203	4300	6503	SO:0001583	missense	137872	2	121412	30				g.chr8:67364315C>T	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.862C>T	chr8.hg19:g.67364315C>T	ENSP00000379865:p.Arg288Trp	0					ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W	p.R288W	NM_144650.2	NP_653251.2	0	0	0	1.973482	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)	9	893	+		Lung NSC(129;0.197)	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	1	1	hg19	c.862C>T	CCDS6190.2	1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996950	0.54147	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.50548	0.74;0.74;0.74	5.52	0.228	0.15364	5.52	0.228	0.15364	Alcohol dehydrogenase, iron-type (1);	0.293196	0.30771	N	0.008903	T	0.71126	0.3303	M	0.91612	3.225	0.22112	N	0.999358	D	0.65815	0.995	P	0.62382	0.901	T	0.71659	-0.4526	10	0.87932	D	0	-12.5708	16.6911	0.85322	0.6885:0.3115:0.0:0.0	.	288	Q8IWW8	HOT_HUMAN	W	288;288;240	ENSP00000368695:R288W;ENSP00000379865:R288W;ENSP00000407115:R240W	ENSP00000368695:R288W	R	+	1	2	2	ADHFE1	67526869	67526869	0.000000	0.05858	0.112000	0.21494	0.712000	0.41017	-0.659000	0.05323	-0.256000	0.09473	-0.194000	0.12790	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	1	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-20.000000	1	0.170000	NM_144650			55	55		211	207	1		1	0		0	0	64	0		1	3.664296e-01	0	1	0	5	0	55	211
ADHFE1	137872	broad.mit.edu	37	8	67369306	67369306	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	356					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)			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)			TCTCCCCAGCCCCATGGCCTT	0.522																																						ENST00000396623.3	0.510000	0.250000	4.500000e-01	3.100000e-01	0.370000	0.384274	0.370000	0.370000																										0				29						c.(1066-1068)cCc>cTc		alcohol dehydrogenase, iron containing, 1							174.0	160.0	165.0					8																	67369306		2203	4300	6503	SO:0001630	splice_region_variant	137872	0	0					g.chr8:67369306C>T	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.1066-1C>T	chr8.hg19:g.67369306C>T		0					ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308L	p.P356L	NM_144650.2	NP_653251.2	0	0	0	1.973482	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)	12	1098	+		Lung NSC(129;0.197)	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Splice_Site	SNP	ENST00000396623.3	0	1	hg19	c.1067C>T	CCDS6190.2	0	.	.	.	.	.	.	.	.	.	.	C	34	5.403705	0.96051	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	5.83	5.83	0.93111	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.98314	4.2	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.88264	0.2925	10	0.87932	D	0	-10.1005	20.1084	0.97900	0.0:1.0:0.0:0.0	.	356	Q8IWW8	HOT_HUMAN	L	356;308	ENSP00000379865:P356L;ENSP00000407115:P308L	ENSP00000379865:P356L	P	+	2	0	0	ADHFE1	67531860	67531860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.690000	0.84178	2.752000	0.94435	0.563000	0.77884	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	0	0	1		2	2	2	0		0	0	234		234	234	1	2.060000	-3.104879	1	0.170000	NM_144650	Missense_Mutation		32	32		959	929	0		1	0		0	0	234	0		1	3.472483e-02	0	0	0	9	0	32	959
C8orf46	254778	broad.mit.edu	37	8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000305454.3	+	1	453	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512																																						ENST00000305454.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(10-12)caG>caT		chromosome 8 open reading frame 46							110.0	93.0	99.0					8																	67405895		2203	4300	6503	SO:0001583	missense	254778	0	0					g.chr8:67405895G>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.12G>T	chr8.hg19:g.67405895G>T	ENSP00000302260:p.Gln4His	0					C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H	p.Q4H	NM_152765.3	NP_689978.2	0	0	0	1.973482	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)	1	453	+			B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	1	1	hg19	c.12G>T	CCDS6191.2	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434499	0.83776	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.087235	0.50627	D	0.000108	T	0.68805	0.3041	L	0.36672	1.1	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.964	T	0.69555	-0.5114	9	0.72032	D	0.01	-10.6183	18.6387	0.91387	0.0:0.0:1.0:0.0	.	4;4	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	4	.	ENSP00000302260:Q4H	Q	+	3	2	2	C8orf46	67568449	67568449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.740000	0.47418	2.835000	0.97688	0.650000	0.86243	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.300960	1	0.170000	NM_152765			56	52		260	254	1		1	0		0	0	76	0		1	0	0	0	0	1	0	56	260
VCPIP1	80124	broad.mit.edu	37	8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	785					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.R785*(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)			ATGGACTGTCGTCCATCATTA	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4	0.400000	0.150000	3.300000e-01	2.000000e-01	0.250000	0.270240	0.250000	0.260000																										1	Substitution - Nonsense(1)	p.R785*(1)	large_intestine(1)	45						c.(2353-2355)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							180.0	171.0	174.0					8																	67576841		2203	4300	6503	SO:0001587	stop_gained	80124	0	0					g.chr8:67576841G>A	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.2353C>T	chr8.hg19:g.67576841G>A	ENSP00000309031:p.Arg785*	0						p.R785*	NM_025054.4	NP_079330.2	0	0	0	1.973482	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)	1	2611	-		Lung NSC(129;0.142)|all_lung(136;0.227)	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	0	1	hg19	c.2353C>T	CCDS6192.1	0	.	.	.	.	.	.	.	.	.	.	G	42	9.250744	0.99115	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.92	5.03	0.67393	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.574	14.0684	0.64847	0.0:0.0:0.612:0.388	.	.	.	.	X	785	.	ENSP00000309031:R785X	R	-	1	2	2	VCPIP1	67739395	67739395	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.421000	0.44688	1.476000	0.48215	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0	0	1		2	2	2	0		0	0	173		173	171	1	2.060000	-2.652904	1	0.170000				17	16		750	733	0		1	0		0	0	173	0		9.999568e-01	2.242672e-01	0	0	0	38	0	17	750
VCPIP1	80124	broad.mit.edu	37	8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	547					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)			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)			CTGACCTTTCGCACAGATGTG	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(1639-1641)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							199.0	182.0	188.0					8																	67577555		2203	4300	6503	SO:0001587	stop_gained	80124	0	0					g.chr8:67577555G>A	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.1639C>T	chr8.hg19:g.67577555G>A	ENSP00000309031:p.Arg547*	0					C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	p.R547*	NM_025054.4	NP_079330.2	0	0	0	1.973482	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)	1	1897	-		Lung NSC(129;0.142)|all_lung(136;0.227)	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	0	1	hg19	c.1639C>T	CCDS6192.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.657651	0.98415	.	.	ENSG00000175073	ENST00000310421	.	.	.	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3201	18.6399	0.91392	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000309031:R547X	R	-	1	2	2	VCPIP1	67740109	67740109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.454000	0.82982	0.650000	0.86243	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	1	0	0		2	2	2	0		0	0	244		244	244	1	2.060000	-20.000000	1	0.170000				205	197		906	884	1		1	1		0	0	244	0		1	9.973526e-01	0	4	0	37	0	205	906
VCPIP1	80124	broad.mit.edu	37	8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	238	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				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)			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)			TTCTCTCTTAAGGCATGCCAG	0.512																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(712-714)Tta>Gta		valosin containing protein (p97)/p47 complex interacting protein 1							84.0	80.0	81.0					8																	67578482		2203	4300	6503	SO:0001583	missense	80124	0	0					g.chr8:67578482A>C	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.712T>G	chr8.hg19:g.67578482A>C	ENSP00000309031:p.Leu238Val	0					C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	p.L238V	NM_025054.4	NP_079330.2	0	0	0	1.973482	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)	1	970	-		Lung NSC(129;0.142)|all_lung(136;0.227)	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	1	1	hg19	c.712T>G	CCDS6192.1	1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022707	0.54683	.	.	ENSG00000175073	ENST00000310421	T	0.44881	0.91	6.16	-1.24	0.09435	6.16	-1.24	0.09435	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.81942	2.565	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	T	0.69011	-0.5258	10	0.87932	D	0	-6.8277	15.0651	0.71986	0.2283:0.0:0.7717:0.0	.	238	Q96JH7	VCIP1_HUMAN	V	238	ENSP00000309031:L238V	ENSP00000309031:L238V	L	-	1	2	2	VCPIP1	67741036	67741036	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.171000	0.50824	-0.196000	0.10366	0.528000	0.53228	TTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	1	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-20.000000	1	0.170000				70	69		274	271	1		1	1		0	0	77	0		1	9.963288e-01	0	3	0	33	0	70	274
SGK3	23678	broad.mit.edu	37	8	67710851	67710851	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000522398.1_Silent_p.L57L|SGK3_ENST00000520976.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	57	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)			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)			TTGATAAACTTTATAACACTG	0.303																																						ENST00000396596.1	0.750000	0.370000	6.500000e-01	4.500000e-01	0.540000	0.561050	0.540000	0.550000																										0				18						c.(169-171)ctT>ctG		serum/glucocorticoid regulated kinase family, member 3							140.0	154.0	149.0					8																	67710851		2203	4299	6502	SO:0001819	synonymous_variant	23678	0	0					g.chr8:67710851T>G		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.171T>G	chr8.hg19:g.67710851T>G		0					SGK3_ENST00000522398.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000520976.1_Silent_p.L57L	p.L57L	NM_013257.4	NP_037389.4	0	0	0	1.973482	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)	3	385	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	1	1	hg19	c.171T>G	CCDS6195.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3	1	0	1		2	2	2	0		0	0	150		150	149	1	2.060000	-20.000000	1	0.170000				30	30		605	583	0		1	1		0	0	150	0		1	5.912443e-01	0	3	0	38	0	30	605
SGK3	23678	broad.mit.edu	37	8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	476	AGC-kinase C-terminal.				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)			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)			TGCCAGTGTATTGGAGGCAGA	0.378																																						ENST00000396596.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1426-1428)Ttg>Gtg		serum/glucocorticoid regulated kinase family, member 3							265.0	223.0	237.0					8																	67771751		2203	4300	6503	SO:0001583	missense	23678	0	0					g.chr8:67771751T>G		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.1426T>G	chr8.hg19:g.67771751T>G	ENSP00000379842:p.Leu476Val	0					SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000520976.1_Missense_Mutation_p.L444V	p.L476V	NM_013257.4	NP_037389.4	0	0	0	1.973482	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)	17	1640	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	1	1	hg19	c.1426T>G	CCDS6195.1	1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198526	0.22037	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.41	-0.871	0.10642	5.41	-0.871	0.10642	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112392	0.64402	D	0.000012	T	0.34890	0.0913	L	0.45470	1.425	0.32286	N	0.566956	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.017	T	0.08994	-1.0695	9	0.29301	T	0.29	.	1.8129	0.03094	0.228:0.4477:0.1051:0.2193	.	444;476	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	476;476;476;476;444;476;476	ENSP00000429022:L476V;ENSP00000430463:L476V;ENSP00000430256:L476V;ENSP00000430691:L444V;ENSP00000379842:L476V;ENSP00000331816:L476V	ENSP00000262211:L476V	L	+	1	2	2	SGK3	67934305	67934305	0.736000	0.28164	0.297000	0.24988	0.994000	0.84299	1.425000	0.34859	-0.067000	0.12976	0.528000	0.53228	TTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000				89	87		366	360	1		1	1		0	0	91	0		1	9.999632e-01	0	11	0	52	0	89	366
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577					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)				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)			AATGATGGGCGTACAGCCTGC	0.308																																						ENST00000262210.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				49						c.(1624-1626)Gta>Ata		centrosome and spindle pole associated protein 1							71.0	65.0	67.0					8																	68030998		1838	4077	5915	SO:0001583	missense	79848	13	120802	38				g.chr8:68030998G>A	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.1624G>A	chr8.hg19:g.68030998G>A	ENSP00000262210:p.Val542Ile	0					CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	p.V542I	NM_024790.6	NP_079066.5	0	0	0	1.973482	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)	13	1655	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	1	1	hg19	c.1624G>A	CCDS43744.1	1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	0	CSPP1	68193552	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.262632	1	0.170000	NM_024790			30	30		158	155	1		1	1		0	0	36	0		1	8.956950e-01	0	10	0	13	0	30	158
ARFGEF1	10565	broad.mit.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					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)			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)			GCACTAACGCGGCTCTCATCC	0.547																																						ENST00000262215.3	0.770000	0.270000	6.300000e-01	3.700000e-01	0.480000	0.506373	0.480000	0.470000																										0				65						c.(5227-5229)Cgc>Tgc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							82.0	74.0	77.0					8																	68113742		2203	4300	6503	SO:0001583	missense	10565	1	121412	28				g.chr8:68113742G>A	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.5227C>T	chr8.hg19:g.68113742G>A	ENSP00000262215:p.Arg1743Cys	0					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	p.R1743C	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	37	5616	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	1	1	hg19	c.5227C>T	CCDS6199.1	0	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	0	ARFGEF1	68276296	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	67		67	66	1	2.060000	-3.119362	1	0.170000	NM_006421			13	13		301	298	0		1	1		0	0	67	0		9.995324e-01	9.911979e-01	0	13	0	171	0	13	301
ARFGEF1	10565	broad.mit.edu	37	8	68117025	68117025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Silent_p.L1071L|ARFGEF1_ENST00000518230.1_Silent_p.L455L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1617					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)			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)			TTAATCAACAGGGCAGCAAAC	0.383																																						ENST00000262215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4849-4851)Ctg>Ttg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							96.0	88.0	91.0					8																	68117025		2203	4300	6503	SO:0001819	synonymous_variant	10565	0	0					g.chr8:68117025G>A	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.4849C>T	chr8.hg19:g.68117025G>A		0					ARFGEF1_ENST00000518230.1_Silent_p.L455L|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Silent_p.L1071L	p.L1617L	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	35	5238	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	1	1	hg19	c.4849C>T	CCDS6199.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-2.624361	1	0.170000	NM_006421			80	80		423	419	0		1	1		0	0	86	0		1	9.999962e-01	0	22	0	74	0	80	423
ARFGEF1	10565	broad.mit.edu	37	8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1616					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)			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)			AATCAACAGGGCAGCAAACAA	0.373																																						ENST00000262215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4846-4848)gCc>gTc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							94.0	87.0	89.0					8																	68117027		2203	4300	6503	SO:0001583	missense	10565	1	121412	36				g.chr8:68117027G>A	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.4847C>T	chr8.hg19:g.68117027G>A	ENSP00000262215:p.Ala1616Val	0					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V	p.A1616V	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	35	5236	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	1	1	hg19	c.4847C>T	CCDS6199.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936052	0.73442	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.51817	0.69;0.69;0.69	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.054916	0.64402	D	0.000001	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19935	0.017;0.04;0.022	B;B;B	0.18561	0.022;0.022;0.01	T	0.10730	-1.0617	10	0.38643	T	0.18	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1616;440;1070	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	V	1070;1616;454	ENSP00000428429:A1070V;ENSP00000262215:A1616V;ENSP00000430891:A454V	ENSP00000262215:A1616V	A	-	2	0	0	ARFGEF1	68279581	68279581	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_006421			109	109		390	386	1		1	1		0	0	84	0		1	1	0	28	0	73	0	109	390
ARFGEF1	10565	broad.mit.edu	37	8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1594					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)			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)			TTCATTAACAGCAGACGCAGA	0.328																																						ENST00000262215.3	1.000000	0.470000	9.500000e-01	6.000000e-01	0.760000	0.773588	0.760000	1.000000																										0				65						c.(4780-4782)gCt>gAt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							55.0	56.0	56.0					8																	68123756		2203	4300	6503	SO:0001583	missense	10565	0	0					g.chr8:68123756G>T	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.4781C>A	chr8.hg19:g.68123756G>T	ENSP00000262215:p.Ala1594Asp	0					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	p.A1594D	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	34	5170	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	1	1	hg19	c.4781C>A	CCDS6199.1	0	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482276	0.04383	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.43688	2.94;2.11;0.94	5.29	4.18	0.49190	5.29	4.18	0.49190	.	0.940533	0.08909	N	0.876178	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.15484	0.013;0.004;0.004	T	0.20405	-1.0276	10	0.13108	T	0.6	.	6.2718	0.20959	0.1256:0.0:0.6963:0.1781	.	1594;1072;1048	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	1048;1594;432	ENSP00000428429:A1048D;ENSP00000262215:A1594D;ENSP00000430891:A432D	ENSP00000262215:A1594D	A	-	2	0	0	ARFGEF1	68286310	68286310	0.378000	0.25114	0.985000	0.45067	0.105000	0.19272	1.906000	0.39887	2.631000	0.89168	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.987190	1	0.170000	NM_006421			18	17		256	253	1		1	1		0	0	38	0		9.999823e-01	9.996111e-01	0	26	0	160	0	18	256
ARFGEF1	10565	broad.mit.edu	37	8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	520					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)			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)			CAATTTGCATCTTCAGATGTG	0.318																																						ENST00000262215.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				65						c.(1558-1560)aaG>aaT		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							47.0	47.0	47.0					8																	68183949		2203	4299	6502	SO:0001583	missense	10565	0	0					g.chr8:68183949C>A	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.1560G>T	chr8.hg19:g.68183949C>A	ENSP00000262215:p.Lys520Asn	0						p.K520N	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	10	1949	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	1	1	hg19	c.1560G>T	CCDS6199.1	1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715340	0.68844	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.44	4.56	0.56223	5.44	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.66056	D	0.02	.	8.3321	0.32193	0.0:0.7776:0.0:0.2224	.	520	Q9Y6D6	BIG1_HUMAN	N	520	ENSP00000262215:K520N	ENSP00000262215:K520N	K	-	3	2	2	ARFGEF1	68346503	68346503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.531000	0.36018	2.545000	0.85829	0.585000	0.79938	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_006421			29	29		130	128	1		1	1		0	0	41	0		1	9.999148e-01	0	24	0	46	0	29	130
ARFGEF1	10565	broad.mit.edu	37	8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	316			G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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)			TGGTTTTCTCCGTCATATAAC	0.294																																						ENST00000262215.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(946-948)Gga>Aga		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							194.0	186.0	189.0					8																	68200271		2202	4300	6502	SO:0001583	missense	10565	3	121404	38				g.chr8:68200271C>T	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.946G>A	chr8.hg19:g.68200271C>T	ENSP00000262215:p.Gly316Arg	0						p.G316R	NM_006421.4	NP_006412.2	0	0	0	1.973482	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)	7	1335	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	1	1	hg19	c.946G>A	CCDS6199.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244567	0.59103	.	.	ENSG00000066777	ENST00000262215	T	0.18960	2.18	5.39	5.39	0.77823	5.39	5.39	0.77823	Armadillo-type fold (1);	0.132011	0.52532	D	0.000071	T	0.19685	0.0473	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06006	-1.0851	10	0.17832	T	0.49	.	19.5127	0.95148	0.0:1.0:0.0:0.0	.	316	Q9Y6D6	BIG1_HUMAN	R	316	ENSP00000262215:G316R	ENSP00000262215:G316R	G	-	1	0	0	ARFGEF1	68362825	68362825	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.952000	0.56691	2.688000	0.91661	0.460000	0.39030	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.807687	1	0.170000	NM_006421			68	67		395	391	1		1	1		0	0	82	0		1	9.998610e-01	0	20	0	57	0	68	395
PREX2	80243	broad.mit.edu	37	8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTGTTGTTAATGGATGGAAG	0.318																																						ENST00000288368.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				178						c.(976-978)aAt>aGt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							106.0	94.0	98.0					8																	68965365		2203	4300	6503	SO:0001583	missense	80243	0	0					g.chr8:68965365A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.977A>G	chr8.hg19:g.68965365A>G	ENSP00000288368:p.Asn326Ser	0					PREX2_ENST00000529398.1_3'UTR	p.N326S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	0	0	0	1.973482	Q70Z35	PREX2_HUMAN		9	1254	+			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	1	1	hg19	c.977A>G	CCDS6201.1	1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669176	0.88348	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.89552	-2.53	5.52	5.52	0.82312	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96430	0.9318	10	0.72032	D	0.01	.	15.6423	0.77016	1.0:0.0:0.0:0.0	.	326;326;326	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	S	326	ENSP00000288368:N326S	ENSP00000288368:N326S	N	+	2	0	0	PREX2	69127919	69127919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.518000	0.81795	2.100000	0.63781	0.533000	0.62120	AAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-20.000000	1	0.170000	NM_025170			66	66		267	262	1		1	0		0	0	61	0		1	7.608441e-01	0	0	0	13	0	66	267
C8orf34	116328	broad.mit.edu	37	8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000539993.1	+	7	1346	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000337103.4_Missense_Mutation_p.S241Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	266										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353																																						ENST00000539993.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(796-798)tCt>tAt		chromosome 8 open reading frame 34							114.0	112.0	113.0					8																	69445334		2203	4299	6502	SO:0001583	missense	116328	0	0					g.chr8:69445334C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.797C>A	chr8.hg19:g.69445334C>A	ENSP00000438159:p.Ser266Tyr	0					C8orf34_ENST00000337103.4_Missense_Mutation_p.S241Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y	p.S266Y			0	0	0	1.973482	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)	7	1346	+			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	1	1	hg19	c.797C>A		1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001855	0.35320	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54279	0.58;0.62;0.6	5.54	3.76	0.43208	5.54	3.76	0.43208	.	0.237331	0.44902	D	0.000405	T	0.62514	0.2434	L	0.60455	1.87	0.34619	D	0.718399	B;D	0.63880	0.156;0.993	B;P	0.59487	0.106;0.858	T	0.71196	-0.4664	9	.	.	.	-3.4848	11.9284	0.52833	0.0:0.8589:0.0:0.1411	.	266;266	Q49A92;Q49A92-3	CH034_HUMAN;.	Y	352;266;266;241	ENSP00000427820:S352Y;ENSP00000438159:S266Y;ENSP00000337174:S241Y	.	S	+	2	0	0	C8orf34	69607888	69607888	1.000000	0.71417	0.949000	0.38748	0.758000	0.43043	5.291000	0.65667	0.721000	0.32231	-0.229000	0.12294	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_052958			93	91		470	459	1		1			0	0	133	0		1	0	0	0	0	0	0	93	470
SULF1	23213	broad.mit.edu	37	8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	453					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)			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)			GTACCAGACAGCCTGTGAACA	0.448																																						ENST00000260128.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1357-1359)Gcc>Acc		sulfatase 1							93.0	92.0	92.0					8																	70517147		2203	4300	6503	SO:0001583	missense	23213	0	0					g.chr8:70517147G>A	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.1357G>A	chr8.hg19:g.70517147G>A	ENSP00000260128:p.Ala453Thr	0					SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR	p.A453T	NM_015170.2	NP_055985.2	0	0	0	1.973482	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)	13	2074	+	Breast(64;0.0654)		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	1	1	hg19	c.1357G>A	CCDS6204.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016150	0.75161	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	6.04	6.04	0.98038	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046975	0.85682	D	0.000000	D	0.97297	0.9116	L	0.35723	1.085	0.52099	D	0.999942	P	0.45078	0.85	B	0.42738	0.396	D	0.97297	0.9928	10	0.54805	T	0.06	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	453	Q8IWU6	SULF1_HUMAN	T	453	ENSP00000403040:A453T;ENSP00000260128:A453T;ENSP00000385704:A453T;ENSP00000390315:A453T	ENSP00000260128:A453T	A	+	1	0	0	SULF1	70679701	70679701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.174000	0.71943	2.873000	0.98535	0.561000	0.74099	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_015170			71	70		387	379	1		1	0		0	0	89	0		1	1	0	1	0	1729	0	71	387
SULF1	23213	broad.mit.edu	37	8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	498					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)			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)			CGCGGCTTCCATGACAAAGAC	0.527																																						ENST00000260128.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1492-1494)cAt>cCt		sulfatase 1							72.0	71.0	71.0					8																	70533385		2203	4300	6503	SO:0001583	missense	23213	0	0					g.chr8:70533385A>C	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.1493A>C	chr8.hg19:g.70533385A>C	ENSP00000260128:p.His498Pro	0					SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR	p.H498P	NM_015170.2	NP_055985.2	0	0	0	1.973482	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)	14	2210	+	Breast(64;0.0654)		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	1	1	hg19	c.1493A>C	CCDS6204.1	1	.	.	.	.	.	.	.	.	.	.	A	7.434	0.639363	0.14386	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.95	0.437	0.16555	5.95	0.437	0.16555	Alkaline-phosphatase-like, core domain (1);	0.503729	0.24341	N	0.039369	D	0.93864	0.8037	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87386	0.2360	10	0.25751	T	0.34	.	5.2695	0.15617	0.4829:0.263:0.2542:0.0	.	498	Q8IWU6	SULF1_HUMAN	P	498	ENSP00000403040:H498P;ENSP00000260128:H498P;ENSP00000385704:H498P;ENSP00000390315:H498P	ENSP00000260128:H498P	H	+	2	0	0	SULF1	70695939	70695939	0.001000	0.12720	0.733000	0.30861	0.473000	0.32948	0.257000	0.18369	0.478000	0.27488	0.533000	0.62120	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-20.000000	1	0.170000	NM_015170			51	51		236	234	1		1	0		0	0	64	0		1	1	0	0	0	1625	0	51	236
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.4	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			TAAACCCAACGAATTTGAGGC	0.488																																						ENST00000260126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2239-2241)ttC>ttT		solute carrier organic anion transporter family, member 5A1							92.0	96.0	95.0					8																	70585410		2203	4300	6503	SO:0001819	synonymous_variant	81796	0	0					g.chr8:70585410G>A	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.2241C>T	chr8.hg19:g.70585410G>A		0					SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	p.F747F	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	10	2947	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	1	1	hg19	c.2241C>T	CCDS6205.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-3.279512	1	0.170000	NM_030958			97	90		443	431	1		1	0		0	0	130	0		1	8.677733e-02	0	0	0	3	0	97	443
SLCO5A1	81796	broad.mit.edu	37	8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.4	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	498						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			TCTGGCACCAAGTTTCAATTT	0.398																																						ENST00000260126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(1492-1494)cTt>cGt		solute carrier organic anion transporter family, member 5A1							89.0	89.0	89.0					8																	70617395		2203	4300	6503	SO:0001583	missense	81796	0	0					g.chr8:70617395A>C	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.1493T>G	chr8.hg19:g.70617395A>C	ENSP00000260126:p.Leu498Arg	0					SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	p.L498R	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	6	2199	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	1	1	hg19	c.1493T>G	CCDS6205.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611302	0.87258	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.83275	0.996;0.993;0.98;0.975	T	0.79999	-0.1566	10	0.59425	D	0.04	.	15.9962	0.80250	1.0:0.0:0.0:0.0	.	443;443;498;498	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	R	498;498;443	ENSP00000260126:L498R;ENSP00000434422:L498R;ENSP00000431611:L443R	ENSP00000260126:L498R	L	-	2	0	0	SLCO5A1	70779949	70779949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.253000	0.95501	2.234000	0.73211	0.533000	0.62120	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_030958			75	74		322	317	1		1			0	0	82	0		1	0	0	0	0	0	0	75	322
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30.0	36.0	34.0					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796	0	0					g.chr8:70744219C>T	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.690G>A	chr8.hg19:g.70744219C>T		0					RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	p.S230S	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	2	1396	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	1	1	hg19	c.690G>A	CCDS6205.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_030958			62	62		254	250	1		1	0		0	0	44	0		1	1.030934e-01	0	0	0	3	0	62	254
SLCO5A1	81796	broad.mit.edu	37	8	70744328	70744328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.4	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			CCACAGGGGCCGCCGACCCCG	0.637																																						ENST00000260126.4	0.500000	0.100000	3.800000e-01	1.700000e-01	0.260000	0.284154	0.260000	0.240000																										0				53						c.(580-582)cGg>cAg		solute carrier organic anion transporter family, member 5A1							20.0	26.0	24.0					8																	70744328		2202	4298	6500	SO:0001583	missense	81796	0	0					g.chr8:70744328C>T	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.581G>A	chr8.hg19:g.70744328C>T	ENSP00000260126:p.Arg194Gln	0					RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	p.R194Q	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	2	1287	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	0	1	hg19	c.581G>A	CCDS6205.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.545534	0.96488	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.49	5.49	0.81192	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100668	0.64402	D	0.000004	T	0.77824	0.4188	M	0.87682	2.9	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	T	0.81132	-0.1072	10	0.66056	D	0.02	.	19.377	0.94514	0.0:1.0:0.0:0.0	.	194;194;194;194	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Q	194	ENSP00000260126:R194Q;ENSP00000434422:R194Q;ENSP00000431611:R194Q	ENSP00000260126:R194Q	R	-	2	0	0	SLCO5A1	70906882	70906882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.586000	0.87340	0.561000	0.74099	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-7.169022	1	0.170000	NM_030958			6	7		273	271	0		1	0		0	0	48	0		9.650438e-01	7.017016e-04	0	0	0	2	0	6	273
SLCO5A1	81796	broad.mit.edu	37	8	70744437	70744437	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.4	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			CTGTAGCGCCTTTCAATGGTG	0.562											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.4	0.520000	0.110000	3.900000e-01	1.700000e-01	0.270000	0.291270	0.270000	0.260000																										0				53						c.(472-474)Agg>Ggg		solute carrier organic anion transporter family, member 5A1							72.0	74.0	73.0					8																	70744437		2203	4300	6503	SO:0001583	missense	81796	0	0					g.chr8:70744437T>C	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.472A>G	chr8.hg19:g.70744437T>C	ENSP00000260126:p.Arg158Gly	0		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	p.R158G	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	2	1178	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	0	1	hg19	c.472A>G	CCDS6205.1	0	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799510	0.70567	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.71	3.12	0.35913	5.71	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.101427	0.64402	D	0.000003	T	0.62624	0.2443	M	0.63843	1.955	0.37875	D	0.930193	P;D;P;P	0.55172	0.775;0.97;0.775;0.734	P;P;P;P	0.56563	0.697;0.801;0.601;0.571	T	0.70506	-0.4853	10	0.87932	D	0	.	12.6192	0.56594	0.0:0.0:0.3868:0.6132	.	158;158;158;158	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	G	158	ENSP00000260126:R158G;ENSP00000434422:R158G;ENSP00000431611:R158G	ENSP00000260126:R158G	R	-	1	2	2	SLCO5A1	70906991	70906991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.455000	0.52993	0.950000	0.37743	0.459000	0.35465	AGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-7.100422	1	0.170000	NM_030958			6	6		266	262	0		1			0	0	51	0		9.638187e-01	0	0	0	0	0	0	6	266
SLCO5A1	81796	broad.mit.edu	37	8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.4	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)			CCCGAGCCCCGCCGAAGTGGA	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(268-270)gCg>gTg		solute carrier organic anion transporter family, member 5A1							50.0	54.0	52.0					8																	70744640		2203	4300	6503	SO:0001583	missense	81796	0	0					g.chr8:70744640G>A	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.269C>T	chr8.hg19:g.70744640G>A	ENSP00000260126:p.Ala90Val	0		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	p.A90V	NM_030958.2	NP_112220.2	0	0	0	1.973482	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	2	975	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	1	1	hg19	c.269C>T	CCDS6205.1	1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244930	0.39697	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44083	1.08;1.44;0.93	4.99	3.15	0.36227	4.99	3.15	0.36227	.	1.275500	0.05249	N	0.513614	T	0.32556	0.0833	L	0.29908	0.895	0.30230	N	0.795995	B;B;B;B	0.17268	0.021;0.004;0.004;0.007	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.24225	-1.0166	10	0.33940	T	0.23	.	7.8051	0.29198	0.1945:0.0:0.8055:0.0	.	90;90;90;90	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	90	ENSP00000260126:A90V;ENSP00000434422:A90V;ENSP00000431611:A90V	ENSP00000260126:A90V	A	-	2	0	0	SLCO5A1	70907194	70907194	0.705000	0.27846	0.984000	0.44739	0.814000	0.46013	1.023000	0.30065	1.328000	0.45358	0.555000	0.69702	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.375164	1	0.170000	NM_030958			58	57		276	270	1		1	0		0	0	51	0		1	3.107826e-02	0	0	0	2	0	58	276
PRDM14	63978	broad.mit.edu	37	8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	367	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATAGCAGTCTCCATACCACAC	0.512																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1099-1101)gGa>gAa		PR domain containing 14							92.0	91.0	92.0					8																	70978553		2203	4300	6503	SO:0001583	missense	63978	0	0					g.chr8:70978553C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1100G>A	chr8.hg19:g.70978553C>T	ENSP00000276594:p.Gly367Glu	0						p.G367E	NM_024504.3	NP_078780.1	0	0	0	1.973482	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)	5	1301	-	Breast(64;0.193)		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	1	1	hg19	c.1100G>A	CCDS6206.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899578	0.91962	.	.	ENSG00000147596	ENST00000276594	D	0.86627	-2.15	5.62	5.62	0.85841	5.62	5.62	0.85841	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.66056	D	0.02	-13.0938	19.6488	0.95793	0.0:1.0:0.0:0.0	.	367	Q9GZV8	PRD14_HUMAN	E	367	ENSP00000276594:G367E	ENSP00000276594:G367E	G	-	2	0	0	PRDM14	71141107	71141107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.481000	0.81124	2.637000	0.89404	0.561000	0.74099	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.780141	1	0.170000				83	83		318	316	1		1			0	0	78	0		1	0	0	0	0	0	0	83	318
PRDM14	63978	broad.mit.edu	37	8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	145					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGTCAGGTCCACAACACGG	0.587																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999669	0.990000	1.000000																										0				32						c.(433-435)gGa>gAa		PR domain containing 14							58.0	54.0	55.0					8																	70981662		2203	4300	6503	SO:0001583	missense	63978	0	0					g.chr8:70981662C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.434G>A	chr8.hg19:g.70981662C>T	ENSP00000276594:p.Gly145Glu	0						p.G145E	NM_024504.3	NP_078780.1	0	0	0	1.973482	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)	2	635	-	Breast(64;0.193)		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	1	1	hg19	c.434G>A	CCDS6206.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457606	0.43634	.	.	ENSG00000147596	ENST00000276594	T	0.10288	2.89	4.91	0.865	0.19074	4.91	0.865	0.19074	.	1.039280	0.07551	N	0.915390	T	0.07324	0.0185	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41822	-0.9487	10	0.35671	T	0.21	-1.2174	5.2354	0.15443	0.0:0.4967:0.3205:0.1828	.	145	Q9GZV8	PRD14_HUMAN	E	145	ENSP00000276594:G145E	ENSP00000276594:G145E	G	-	2	0	0	PRDM14	71144216	71144216	0.976000	0.34144	0.001000	0.08648	0.062000	0.15995	-0.100000	0.10990	-0.026000	0.13895	0.563000	0.77884	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1	1	0	1		2	2	2	0		0	0	60		60	57	1	2.060000	-20.000000	1	0.170000				40	39		271	268	1		1			0	0	60	0		1	0	0	0	0	0	0	40	271
NCOA2	10499	broad.mit.edu	37	8	71039253	71039253	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1237					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)		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)			CCCTCTGTCTCTGGGCCAGCA	0.453			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2	1.000000	0.650000	1	9.200000e-01	0.990000	0.962683	0.990000	1.000000				Dom	yes			Dom	yes		8	8q13.1	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)				L	L	RUNXBP2, HEY1		AML, Chondrosarcoma	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				60						c.(3709-3711)caG>caA		nuclear receptor coactivator 2							101.0	88.0	92.0					8																	71039253		1930	4141	6071	SO:0001819	synonymous_variant	10499	0	0					g.chr8:71039253C>T	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.3711G>A	chr8.hg19:g.71039253C>T		0					NCOA2_ENST00000267974.4_Silent_p.Q325Q	p.Q1237Q	NM_006540.2	NP_006531.1	0	0	0	1.973482	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)	19	3892	-	Breast(64;0.201)		Q14CD2	Silent	SNP	ENST00000452400.2	0	1	hg19	c.3711G>A	CCDS47872.1	1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.836999	0.16891	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.97	1.57	0.23409	5.97	1.57	0.23409	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56998	-0.7886	4	.	.	.	.	11.6264	0.51147	0.0:0.7114:0.0:0.2886	.	.	.	.	K	338	.	.	R	-	2	0	0	NCOA2	71201807	71201807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.389000	0.25086	0.655000	0.94253	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1		2	2	2	0		0	0	15		15	14	1	2.060000	-15.617500	1	0.170000				9	9		71	70	1		1	1		0	0	15	0		9.948237e-01	9.951209e-01	0	13	0	67	0	9	71
NCOA2	10499	broad.mit.edu	37	8	71041048	71041048	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1164					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)		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)			GTGTGGCATAACTAGGCCGCT	0.552			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		8	8q13.1	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)				L	L	RUNXBP2, HEY1		AML, Chondrosarcoma	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				60						c.(3490-3492)agT>agC		nuclear receptor coactivator 2							112.0	108.0	109.0					8																	71041048		1976	4154	6130	SO:0001819	synonymous_variant	10499	0	0					g.chr8:71041048A>G	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.3492T>C	chr8.hg19:g.71041048A>G		0					NCOA2_ENST00000267974.4_Silent_p.S252S	p.S1164S	NM_006540.2	NP_006531.1	0	0	0	1.973482	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)	17	3673	-	Breast(64;0.201)		Q14CD2	Silent	SNP	ENST00000452400.2	1	1	hg19	c.3492T>C	CCDS47872.1	1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119824	0.20877	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.78	-4.55	0.03441	5.78	-4.55	0.03441	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	.	7.2136	0.25947	0.2704:0.1034:0.5253:0.1009	.	.	.	.	A	265	.	.	V	-	2	0	0	NCOA2	71203602	71203602	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	-0.913000	0.04042	-0.794000	0.04468	-0.408000	0.06270	GTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-19.999970	1	0.170000				42	41		189	187	1		1	1		0	0	54	0		1	9.994296e-01	0	6	0	48	0	42	189
NCOA2	10499	broad.mit.edu	37	8	71068359	71068359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	747					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)		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)			TATCTAGCAAATAGCGAAGTA	0.438			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		8	8q13.1	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)				L	L	RUNXBP2, HEY1		AML, Chondrosarcoma	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				60						c.(2239-2241)taT>taC		nuclear receptor coactivator 2							134.0	133.0	133.0					8																	71068359		1857	4098	5955	SO:0001819	synonymous_variant	10499	0	0					g.chr8:71068359A>G	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.2241T>C	chr8.hg19:g.71068359A>G		0					NCOA2_ENST00000524223.1_5'UTR	p.Y747Y	NM_006540.2	NP_006531.1	0	0	0	1.973482	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)	11	2422	-	Breast(64;0.201)		Q14CD2	Silent	SNP	ENST00000452400.2	1	1	hg19	c.2241T>C	CCDS47872.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000				101	98		443	436	0		1	1		0	0	95	0		1	9.991483e-01	0	14	0	34	0	101	443
NCOA2	10499	broad.mit.edu	37	8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	399					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)		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)			GGCTGTTAGAGCTAATTGGAT	0.463			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		8	8q13.1	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)				L	L	RUNXBP2, HEY1		AML, Chondrosarcoma	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				60						c.(1195-1197)agC>agA		nuclear receptor coactivator 2							62.0	61.0	61.0					8																	71069403		1946	4151	6097	SO:0001583	missense	10499	0	0					g.chr8:71069403G>T	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.1197C>A	chr8.hg19:g.71069403G>T	ENSP00000399968:p.Ser399Arg	0					NCOA2_ENST00000524223.1_5'Flank	p.S399R	NM_006540.2	NP_006531.1	0	0	0	1.973482	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)	11	1378	-	Breast(64;0.201)		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	1	1	hg19	c.1197C>A	CCDS47872.1	1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916455	0.17907	.	.	ENSG00000140396	ENST00000452400	T	0.01584	4.75	5.8	4.93	0.64822	5.8	4.93	0.64822	.	0.133374	0.64402	D	0.000001	T	0.01800	0.0057	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27887	0.084	T	0.62062	-0.6933	10	0.38643	T	0.18	.	8.3779	0.32453	0.1384:0.1278:0.7338:0.0	.	399	Q15596	NCOA2_HUMAN	R	399	ENSP00000399968:S399R	ENSP00000399968:S399R	S	-	3	2	2	NCOA2	71231957	71231957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.451000	0.47736	0.563000	0.77884	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	0	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				36	36		147	144	1		1	0		0	0	28	0		1	9.787929e-01	0	1	0	27	0	36	147
NCOA2	10499	broad.mit.edu	37	8	71082518	71082518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71082518G>A	ENST00000452400.2	-	6	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	154	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		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)			TTGTTCATCAGCTCTTCTTGG	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2	1.000000	0.180000	7.900000e-01	3.200000e-01	0.520000	0.558015	0.520000	1.000000				Dom	yes			Dom	yes		8	8q13.1	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)				L	L	RUNXBP2, HEY1		AML, Chondrosarcoma	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				60						c.(460-462)Ctg>Ttg		nuclear receptor coactivator 2							123.0	109.0	114.0					8																	71082518		1898	4129	6027	SO:0001819	synonymous_variant	10499	0	0					g.chr8:71082518G>A	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.460C>T	chr8.hg19:g.71082518G>A		0						p.L154L	NM_006540.2	NP_006531.1	0	0	0	1.973482	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)	6	641	-	Breast(64;0.201)		Q14CD2	Silent	SNP	ENST00000452400.2	0	1	hg19	c.460C>T	CCDS47872.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	0	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-7.654690	1	0.170000				4	4		91	88	0		1	1		0	0	18	0		8.842152e-01	4.824103e-01	0	2	0	31	0	4	91
TRAM1	23471	broad.mit.edu	37	8	71508556	71508556	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000262213.2	-	5	596	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TRAM1_ENST00000521425.1_Splice_Site_p.E57K|TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	143	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				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)			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)			ATGTAGTTTTCCTAAGAAAGA	0.373																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000262213.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(427-429)Gaa>Aaa		translocation associated membrane protein 1							109.0	108.0	108.0					8																	71508556		2203	4300	6503	SO:0001630	splice_region_variant	23471	0	0					g.chr8:71508556C>T	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.427-1G>A	chr8.hg19:g.71508556C>T		0					TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K|TRAM1_ENST00000521425.1_Splice_Site_p.E57K	p.E143K	NM_014294.5	NP_055109.1	0	0	0	1.973482	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)	5	596	-			B4E0K2	Splice_Site	SNP	ENST00000262213.2	1	0	hg19	c.427G>A	CCDS6207.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.579000	0.96565	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.08	6.08	0.98989	6.08	6.08	0.98989	TRAM/LAG1/CLN8 homology domain (3);	0.097717	0.64402	D	0.000001	D	0.93766	0.8007	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91854	0.5494	10	0.33940	T	0.23	-10.4254	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q15629	TRAM1_HUMAN	K	57;143;112	ENSP00000428052:E57K;ENSP00000262213:E143K;ENSP00000439359:E112K	ENSP00000262213:E143K	E	-	1	0	0	TRAM1	71671110	71671110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.909000	0.75735	2.894000	0.99253	0.591000	0.81541	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.379702	1	0.170000	NM_014294	Missense_Mutation		73	70		314	307	1		1	1		0	0	83	0		1	1	0	186	0	1047	0	73	314
XKR9	389668	broad.mit.edu	37	8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	159						integral component of membrane (GO:0016021)				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)			AGCATGGACAAGCGAATTTCA	0.398																																						ENST00000408926.3	0.650000	0.240000	5.400000e-01	3.200000e-01	0.420000	0.437296	0.420000	0.410000																										0				19						c.(475-477)caA>caC		XK, Kell blood group complex subunit-related family, member 9							135.0	124.0	128.0					8																	71619372		2203	4300	6503	SO:0001583	missense	389668	0	0					g.chr8:71619372A>C	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.477A>C	chr8.hg19:g.71619372A>C	ENSP00000386141:p.Gln159His	0					XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	p.Q159H	NM_001011720.1	NP_001011720.1	0	0	0	1.973482	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)	4	1011	+	Breast(64;0.0716)		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	1	1	hg19	c.477A>C	CCDS34905.1	0	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566116	0.13560	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64803	-0.12;-0.12	5.03	2.7	0.31948	5.03	2.7	0.31948	.	0.643829	0.15516	N	0.258289	T	0.48352	0.1495	L	0.53249	1.67	0.09310	N	1	P	0.38223	0.623	B	0.36186	0.219	T	0.45440	-0.9261	10	0.39692	T	0.17	-0.0441	0.6152	0.00768	0.4631:0.1745:0.1943:0.1681	.	159	Q5GH70	XKR9_HUMAN	H	159	ENSP00000386141:Q159H;ENSP00000431088:Q159H	ENSP00000386141:Q159H	Q	+	3	2	2	XKR9	71781926	71781926	0.009000	0.17119	0.011000	0.14972	0.479000	0.33129	0.593000	0.23999	0.781000	0.33589	0.460000	0.39030	CAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	0	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.585833	1	0.170000	NM_001011720			15	15		403	394	0		1	1		0	0	98	0		9.998550e-01	5.481072e-01	0	9	0	40	0	15	403
XKR9	389668	broad.mit.edu	37	8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S258I	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	258						integral component of membrane (GO:0016021)				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)			ACTTGTATAAGTATGGAATTC	0.274																																						ENST00000408926.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(772-774)aGt>aTt		XK, Kell blood group complex subunit-related family, member 9							114.0	113.0	113.0					8																	71646310		2201	4297	6498	SO:0001583	missense	389668	0	0					g.chr8:71646310G>T	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.773G>T	chr8.hg19:g.71646310G>T	ENSP00000386141:p.Ser258Ile	0					XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	p.S258I	NM_001011720.1	NP_001011720.1	0	0	0	1.973482	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)	5	1307	+	Breast(64;0.0716)		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	1	1	hg19	c.773G>T	CCDS34905.1	1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064419	0.08388	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	4.09	0.47781	4.99	4.09	0.47781	.	1.137670	0.06108	N	0.666720	T	0.58652	0.2137	L	0.55481	1.735	0.09310	N	1	P	0.38395	0.629	B	0.41619	0.361	T	0.46748	-0.9169	10	0.21540	T	0.41	0.5492	4.7866	0.13227	0.086:0.1521:0.6048:0.1571	.	258	Q5GH70	XKR9_HUMAN	I	258	ENSP00000386141:S258I;ENSP00000431088:S258I	ENSP00000386141:S258I	S	+	2	0	0	XKR9	71808864	71808864	0.993000	0.37304	0.556000	0.28293	0.194000	0.23727	2.704000	0.47118	1.268000	0.44264	0.563000	0.77884	AGT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-19.999970	1	0.170000	NM_001011720			42	40		187	185	1		1	1		0	0	52	0		1	9.458367e-01	0	2	0	22	0	42	187
XKR9	389668	broad.mit.edu	37	8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G332V	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	332						integral component of membrane (GO:0016021)				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)			CTTCTTCTTGGAATTCTTTTT	0.333																																						ENST00000408926.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994345	0.990000	1.000000																										0				19						c.(994-996)gGa>gTa		XK, Kell blood group complex subunit-related family, member 9							56.0	58.0	57.0					8																	71646532		2203	4297	6500	SO:0001583	missense	389668	0	0					g.chr8:71646532G>T	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.995G>T	chr8.hg19:g.71646532G>T	ENSP00000386141:p.Gly332Val	0					XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	p.G332V	NM_001011720.1	NP_001011720.1	0	0	0	1.973482	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)	5	1529	+	Breast(64;0.0716)		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	1	1	hg19	c.995G>T	CCDS34905.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034078	0.75504	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.78816	-1.21;-1.21	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91059	0.4884	10	0.87932	D	0	-12.7087	18.4549	0.90717	0.0:0.0:1.0:0.0	.	332	Q5GH70	XKR9_HUMAN	V	332	ENSP00000386141:G332V;ENSP00000431088:G332V	ENSP00000386141:G332V	G	+	2	0	0	XKR9	71809086	71809086	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.920000	0.75799	2.592000	0.87571	0.557000	0.71058	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-19.999350	1	0.170000	NM_001011720			14	14		87	87	1		1	1		0	0	41	0		9.998286e-01	8.238828e-01	0	3	0	19	0	14	87
EYA1	2138	broad.mit.edu	37	8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A	rs376931849		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	440			R -> Q (in BOR1). {ECO:0000269|PubMed:10464653, ECO:0000269|PubMed:21280147}.		anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463																																						ENST00000340726.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1318-1320)Cgg>Tgg		EYA transcriptional coactivator and phosphatase 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	196.0	171.0	179.0		1318,1318,1213,1219	4.5	1.0	8		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	101,101,101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	440/593,440/593,405/558,407/560	72128969	2,13004	2203	4300	6503	SO:0001583	missense	2138	1	121412	37				g.chr8:72128969G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1318C>T	chr8.hg19:g.72128969G>A	ENSP00000342626:p.Arg440Trp	0					EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W	p.R440W	NM_000503.4	NP_000494.2	0	0	0	1.973482	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)	14	1957	-	Breast(64;0.046)		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	1	1	hg19	c.1318C>T	CCDS34906.1	1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916777	0.73098	0.0	2.33E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.44	4.53	0.55603	5.44	4.53	0.55603	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	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	0.79108	0.967;0.988;0.991;0.967;0.992	D	0.91073	0.4894	10	0.87932	D	0	-12.6378	13.5438	0.61690	0.0:0.0:0.7247:0.2753	.	434;367;407;440;405	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	440;440;408;407;434;406;439;405	ENSP00000373394:R440W;ENSP00000342626:R440W;ENSP00000373392:R407W;ENSP00000303221:R434W;ENSP00000373393:R406W;ENSP00000373395:R439W;ENSP00000410176:R405W	ENSP00000303221:R434W	R	-	1	2	2	EYA1	72291523	72291523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.832000	0.97577	0.655000	0.94253	CGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	1		2	2	2	0		0	0	69		69	67	1	2.060000	-20.000000	1	0.170000	NM_000503, NM_172060			102	102		393	389	1		1			0	0	69	0		1	0	0	0	0	0	0	102	393
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000303824.7_Silent_p.G295G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	301					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468																																						ENST00000340726.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(901-903)ggG>ggA		EYA transcriptional coactivator and phosphatase 1							251.0	231.0	237.0					8																	72184056		2203	4300	6503	SO:0001819	synonymous_variant	2138	0	0					g.chr8:72184056C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.903G>A	chr8.hg19:g.72184056C>T		0					EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000388741.2_Silent_p.G267G	p.G301G	NM_000503.4	NP_000494.2	0	0	0	1.973482	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)	10	1542	-	Breast(64;0.046)		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	1	1	hg19	c.903G>A	CCDS34906.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	0		2	2	2	0		0	0	183		183	183	1	2.060000	-20.000000	1	0.170000	NM_000503, NM_172060			175	173		797	783	1		1			0	0	183	0		1	0	0	0	0	0	0	175	797
EYA1	2138	broad.mit.edu	37	8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	292					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463																																						ENST00000340726.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(874-876)tCt>tAt		EYA transcriptional coactivator and phosphatase 1							263.0	246.0	252.0					8																	72184084		2203	4300	6503	SO:0001583	missense	2138	0	0					g.chr8:72184084G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.875C>A	chr8.hg19:g.72184084G>T	ENSP00000342626:p.Ser292Tyr	0					EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y	p.S292Y	NM_000503.4	NP_000494.2	0	0	0	1.973482	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)	10	1514	-	Breast(64;0.046)		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	1	1	hg19	c.875C>A	CCDS34906.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891954	0.91889	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.127359	0.56097	D	0.000031	D	0.86451	0.5936	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.995	D;D;P;D;P	0.75020	0.937;0.985;0.905;0.937;0.834	T	0.80948	-0.1154	10	0.09590	T	0.72	-6.9874	19.8344	0.96650	0.0:0.0:1.0:0.0	.	286;219;259;292;287	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	292;292;260;259;286;258;291;287	ENSP00000373394:S292Y;ENSP00000342626:S292Y;ENSP00000373392:S259Y;ENSP00000303221:S286Y;ENSP00000373393:S258Y;ENSP00000373395:S291Y;ENSP00000410176:S287Y	ENSP00000303221:S286Y	S	-	2	0	0	EYA1	72346638	72346638	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	9.272000	0.95707	2.696000	0.92011	0.561000	0.74099	TCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	0		2	2	2	0		0	0	217		217	215	1	2.060000	-20.000000	1	0.170000	NM_000503, NM_172060			214	212		996	979	1		1			0	0	217	0		1	0	0	0	0	0	0	214	996
MSC	9242	broad.mit.edu	37	8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	180					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473																																						ENST00000325509.4	0.760000	0.490000	6.900000e-01	5.500000e-01	0.610000	0.625826	0.610000	0.620000																										0				26						c.(538-540)tgG>tgT		musculin							228.0	228.0	228.0					8																	72754977		1932	4132	6064	SO:0001583	missense	9242	0	0					g.chr8:72754977C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.540G>T	chr8.hg19:g.72754977C>A	ENSP00000321445:p.Trp180Cys	0					RP11-383H13.1_ENST00000524152.1_5'Flank|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	p.W180C	NM_005098.3	NP_005089.2	0	0	0	1.973482	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)	2	829	-	Breast(64;0.176)		O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	1	1	hg19	c.540G>T	CCDS43746.1	0	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598965	0.87055	.	.	ENSG00000178860	ENST00000325509	D	0.87887	-2.31	4.88	4.88	0.63580	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92801	0.6256	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	180	O60682	MUSC_HUMAN	C	180	ENSP00000321445:W180C	ENSP00000321445:W180C	W	-	3	0	0	MSC	72917531	72917531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.137000	0.77295	2.559000	0.86315	0.462000	0.41574	TGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	1		2	2	2	0		0	0	263		263	263	1	2.060000	-8.313923	1	0.170000	NM_005098			76	76		1347	1328	0		1	0		0	0	263	0		1	8.714834e-01	0	0	0	66	0	76	1347
MSC	9242	broad.mit.edu	37	8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000524152.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	176					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(526-528)Gtg>Atg		musculin							32.0	35.0	34.0					8																	72755888		2188	4292	6480	SO:0001583	missense	9242	0	0					g.chr8:72755888C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.526G>A	chr8.hg19:g.72755888C>T	ENSP00000321445:p.Val176Met	0		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_5'UTR|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000521467.1_Intron	p.V176M	NM_005098.3	NP_005089.2	0	0	0	1.973482	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)	1	815	-	Breast(64;0.176)		O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	1	1	hg19	c.526G>A	CCDS43746.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997270	0.93167	.	.	ENSG00000178860	ENST00000325509	D	0.88046	-2.33	5.07	5.07	0.68467	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (1);	0.060231	0.64402	D	0.000003	D	0.91855	0.7422	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92441	0.5962	10	0.62326	D	0.03	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	176	O60682	MUSC_HUMAN	M	176	ENSP00000321445:V176M	ENSP00000321445:V176M	V	-	1	0	0	MSC	72918442	72918442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_005098			54	52		287	282	0		1	0		0	0	53	0		1	9.993839e-01	0	0	0	61	0	54	287
MSC	9242	broad.mit.edu	37	8	72756150	72756150	+	Silent	SNP	G	G	A	rs376704804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	ENST00000325509.4	-	1	553	c.264C>T	c.(262-264)ggC>ggT	p.G88G	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	88	Gly-rich.|Poly-Gly.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCCACCACCGCCCGCGCTAC	0.741											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4	1.000000	0.980000	1	9.900000e-01	0.990000	0.997087	0.990000	1.000000																										0				26						c.(262-264)ggC>ggT		musculin							4.0	6.0	6.0					8																	72756150		2072	4131	6203	SO:0001819	synonymous_variant	9242	0	0					g.chr8:72756150G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.264C>T	chr8.hg19:g.72756150G>A		0		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	p.G88G	NM_005098.3	NP_005089.2	0	0	0	1.973482	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)	1	553	-	Breast(64;0.176)		O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	0	1	hg19	c.264C>T	CCDS43746.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-19.999730	1	0.170000	NM_005098			13	12		68	66	0		1	0		0	0	13	0		9.995949e-01	3.012048e-02	0	0	0	2	0	13	68
TRPA1	8989	broad.mit.edu	37	8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	789					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.A789V(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)	AATTTGCCCCGCTTCTTTGCA	0.274																																						ENST00000262209.4	1.000000	0.470000	1	7.100000e-01	0.990000	0.894255	0.990000	1.000000																										1	Substitution - Missense(1)	p.A789V(1)	stomach(1)	98						c.(2365-2367)gCg>gTg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						34.0	36.0	35.0					8																	72950237		2196	4279	6475	SO:0001583	missense	8989	0	0					g.chr8:72950237G>A	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.2366C>T	chr8.hg19:g.72950237G>A	ENSP00000262209:p.Ala789Val	0					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	p.A789V	NM_007332.2	NP_015628.2	0	0	0	1.973482	O75762	TRPA1_HUMAN	Epithelial(68;0.223)	20	2573	-			A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	1	1	hg19	c.2366C>T	CCDS34908.1	1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002122	0.02128	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77358	-1.09;-1.09	5.58	4.36	0.52297	5.58	4.36	0.52297	Ion transport (1);	0.669343	0.15878	N	0.240178	T	0.42314	0.1197	N	0.00656	-1.285	0.26743	N	0.970347	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.06891	T	0.86	-11.0883	7.9719	0.30132	0.8368:0.0:0.1632:0.0	.	789	O75762	TRPA1_HUMAN	V	641;789	ENSP00000428151:A641V;ENSP00000262209:A789V	ENSP00000262209:A789V	A	-	2	0	0	TRPA1	73112791	73112791	0.855000	0.29742	0.961000	0.40146	0.539000	0.34962	3.072000	0.50049	0.938000	0.37419	-0.290000	0.09829	GCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-5.630180	1	0.170000	NM_007332			7	7		72	71	0		1	0		0	0	42	0		9.814076e-01	1.084011e-02	0	0	0	2	0	7	72
KCNB2	9312	broad.mit.edu	37	8	73480440	73480440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	157					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)			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)	GAGAGGCAGAGACTATGCGAG	0.458																																						ENST00000523207.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(469-471)gaG>gaA		potassium voltage-gated channel, Shab-related subfamily, member 2	Dalfampridine(DB06637)						136.0	143.0	140.0					8																	73480440		2203	4300	6503	SO:0001819	synonymous_variant	9312	1	121412	32				g.chr8:73480440G>A	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.471G>A	chr8.hg19:g.73480440G>A		0						p.E157E	NM_004770.2	NP_004761.2	0	0	0	1.973482	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)	2	1059	+	Breast(64;0.137)		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	1	1	hg19	c.471G>A	CCDS6209.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1		2	2	2	0		0	0	179		179	178	1	2.060000	-20.000000	1	0.170000	NM_004770			125	119		656	645	1		1	0		0	0	179	0		1	0	0	0	0	1	0	125	656
KCNB2	9312	broad.mit.edu	37	8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	341					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)			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)	TTGATATTGTTTCTGGCCATG	0.468																																						ENST00000523207.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1021-1023)tTt>tGt		potassium voltage-gated channel, Shab-related subfamily, member 2	Dalfampridine(DB06637)						112.0	114.0	113.0					8																	73848612		2203	4300	6503	SO:0001583	missense	9312	0	0					g.chr8:73848612T>G	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.1022T>G	chr8.hg19:g.73848612T>G	ENSP00000430846:p.Phe341Cys	0						p.F341C	NM_004770.2	NP_004761.2	0	0	0	1.973482	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)	3	1610	+	Breast(64;0.137)		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	1	1	hg19	c.1022T>G	CCDS6209.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482737	0.84747	.	.	ENSG00000182674	ENST00000523207	D	0.98914	-5.23	5.74	5.74	0.90152	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.99202	0.9723	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	341	Q92953	KCNB2_HUMAN	C	341	ENSP00000430846:F341C	ENSP00000430846:F341C	F	+	2	0	0	KCNB2	74011166	74011166	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1		2	2	2	0		0	0	149		149	149	1	2.060000	-20.000000	1	0.170000	NM_004770			140	140		697	684	1		1			0	0	149	0		1	0	0	0	0	0	0	140	697
KCNB2	9312	broad.mit.edu	37	8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	414					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)			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)	CCTTCCTATCCCAATTATTGT	0.443																																						ENST00000523207.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(1240-1242)Cca>Tca		potassium voltage-gated channel, Shab-related subfamily, member 2	Dalfampridine(DB06637)						74.0	76.0	75.0					8																	73848830		2203	4300	6503	SO:0001583	missense	9312	0	0					g.chr8:73848830C>T	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.1240C>T	chr8.hg19:g.73848830C>T	ENSP00000430846:p.Pro414Ser	0						p.P414S	NM_004770.2	NP_004761.2	0	0	0	1.973482	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)	3	1828	+	Breast(64;0.137)		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	1	1	hg19	c.1240C>T	CCDS6209.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016589	0.75161	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.74	5.74	0.90152	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.45126	D	0.000385	D	0.98741	0.9577	M	0.67397	2.05	0.80722	D	1	D	0.59767	0.986	D	0.68943	0.961	D	0.99865	1.1088	10	0.87932	D	0	.	19.91	0.97023	0.0:1.0:0.0:0.0	.	414	Q92953	KCNB2_HUMAN	S	414	ENSP00000430846:P414S	ENSP00000430846:P414S	P	+	1	0	0	KCNB2	74011384	74011384	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-3.328298	1	0.170000	NM_004770			80	78		328	319	1		1			0	0	76	0		1	0	0	0	0	0	0	80	328
RDH10	157506	broad.mit.edu	37	8	74209428	74209428	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000240285.5	+	2	967		c.e2-1		RDH10_ENST00000519380.1_De_novo_Start_OutOfFrame|RPL7_ENST00000396466.1_5'Flank|RP11-434I12.2_ENST00000520894.1_RNA|RPL7_ENST00000396465.1_5'Flank	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)						bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478																																						ENST00000240285.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11						c.e2-1		retinol dehydrogenase 10 (all-trans)							73.0	64.0	67.0					8																	74209428		2203	4300	6503	SO:0001630	splice_region_variant	157506	0	0					g.chr8:74209428G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.290-1G>A	chr8.hg19:g.74209428G>A		0					RPL7_ENST00000396465.1_5'Flank|RP11-434I12.2_ENST00000520894.1_RNA|RDH10_ENST00000519380.1_De_novo_Start_OutOfFrame|RPL7_ENST00000396466.1_5'Flank		NM_172037.4	NP_742034.1	0	0	0	1.973482	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)	2	967	+	Breast(64;0.0954)			Splice_Site	SNP	ENST00000240285.5	1	0	hg19		CCDS6213.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638496	0.67130	.	.	ENSG00000121039	ENST00000240285	.	.	.	5.05	5.05	0.67936	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	RDH10	74371982	74371982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.337000	0.72958	2.780000	0.95670	0.655000	0.94253	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000		Intron		33	32		129	129	0		1	1		0	0	34	0		1	4.397635e-02	0	2	0	0	0	33	129
RDH10	157506	broad.mit.edu	37	8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	262					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398																																						ENST00000240285.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				11						c.(784-786)cCt>cAt		retinol dehydrogenase 10 (all-trans)							65.0	63.0	63.0					8																	74234928		2203	4300	6503	SO:0001583	missense	157506	0	0					g.chr8:74234928C>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.785C>A	chr8.hg19:g.74234928C>A	ENSP00000240285:p.Pro262His	0					RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P97H	p.P262H	NM_172037.4	NP_742034.1	0	0	0	1.973482	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)	5	1463	+	Breast(64;0.0954)			Missense_Mutation	SNP	ENST00000240285.5	1	1	hg19	c.785C>A	CCDS6213.1	1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674208	0.47781	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.91068	-2.78;0.41	5.25	4.38	0.52667	5.25	4.38	0.52667	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	N	0.11560	0.145	0.58432	D	0.999994	D	0.58970	0.984	P	0.49922	0.626	T	0.81863	-0.0737	10	0.14656	T	0.56	.	14.4028	0.67060	0.0:0.929:0.0:0.071	.	262	Q8IZV5	RDH10_HUMAN	H	262;97	ENSP00000240285:P262H;ENSP00000428132:P97H	ENSP00000240285:P262H	P	+	2	0	0	RDH10	74397482	74397482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.854000	0.55949	1.589000	0.49982	0.591000	0.81541	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	0		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000				51	51		282	276	1		1	1		0	0	60	0		1	9.983843e-01	0	8	0	48	0	51	282
RDH10	157506	broad.mit.edu	37	8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	285					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517																																						ENST00000240285.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(853-855)cCc>cTc		retinol dehydrogenase 10 (all-trans)							110.0	98.0	102.0					8																	74234997		2203	4300	6503	SO:0001583	missense	157506	0	0					g.chr8:74234997C>T	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.854C>T	chr8.hg19:g.74234997C>T	ENSP00000240285:p.Pro285Leu	0					RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P120L	p.P285L	NM_172037.4	NP_742034.1	0	0	0	1.973482	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)	5	1532	+	Breast(64;0.0954)			Missense_Mutation	SNP	ENST00000240285.5	1	1	hg19	c.854C>T	CCDS6213.1	1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790810	0.50102	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88354	-2.37;0.77	5.55	4.68	0.58851	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.051646	0.85682	D	0.000000	D	0.89022	0.6597	L	0.45285	1.41	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	D	0.87264	0.2281	10	0.28530	T	0.3	.	14.653	0.68811	0.0:0.9306:0.0:0.0694	.	285	Q8IZV5	RDH10_HUMAN	L	285;120	ENSP00000240285:P285L;ENSP00000428132:P120L	ENSP00000240285:P285L	P	+	2	0	0	RDH10	74397551	74397551	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.411000	0.44600	1.589000	0.49982	0.591000	0.81541	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	0		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000				64	64		334	321	1		1	1		0	0	86	0		1	9.998704e-01	0	11	0	60	0	64	334
TCEB1	6921	broad.mit.edu	37	8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000522337.1	-	5	477	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	53					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|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 elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373																																						ENST00000522337.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998995	0.990000	1.000000																										0				7						c.(157-159)gCt>gTt		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							66.0	56.0	59.0					8																	74859046		2203	4300	6503	SO:0001583	missense	6921	0	0					g.chr8:74859046G>A	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.158C>T	chr8.hg19:g.74859046G>A	ENSP00000429906:p.Ala53Val	0					TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V	p.A53V			0	0	0	1.973482	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)	5	477	-	Breast(64;0.0311)		E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	1	1	hg19	c.158C>T	CCDS34910.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094949	0.56075	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	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	5.14	5.14	0.70334	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.137510	0.31188	N	0.008081	T	0.44953	0.1318	L	0.53671	1.685	0.80722	D	1	B	0.15473	0.013	B	0.24848	0.056	T	0.38436	-0.9661	10	0.54805	T	0.06	-3.8739	18.7873	0.91960	0.0:0.0:1.0:0.0	.	53	Q15369	ELOC_HUMAN	V	53;37;53;53;53;53;53;53	ENSP00000428334:A53V;ENSP00000430224:A37V;ENSP00000428171:A53V;ENSP00000429596:A53V;ENSP00000284811:A53V;ENSP00000429906:A53V;ENSP00000428074:A53V;ENSP00000429789:A53V	ENSP00000284811:A53V	A	-	2	0	0	TCEB1	75021600	75021600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.769000	0.91742	2.669000	0.90835	0.591000	0.81541	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	1	0	1		2	2	2	0		0	0	39		39	40	1	2.060000	-3.323584	1	0.170000	NM_005648			26	26		167	165	1		1	1		0	0	39	0		9.999999e-01	1	0	187	0	484	0	26	167
LY96	23643	broad.mit.edu	37	8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000284818.2	+	3	307	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_ENST00000518893.1_Missense_Mutation_p.K42N	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	72					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(214-216)aaG>aaT		lymphocyte antigen 96							68.0	70.0	69.0					8																	74922249		2203	4300	6503	SO:0001583	missense	23643	0	0					g.chr8:74922249G>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.216G>T	chr8.hg19:g.74922249G>T	ENSP00000284818:p.Lys72Asn	0					LY96_ENST00000518893.1_Missense_Mutation_p.K42N	p.K72N	NM_015364.4	NP_056179	0	0	0	1.973482	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)	3	307	+	Breast(64;0.0311)		B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	1	1	hg19	c.216G>T	CCDS6216.1	1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911873	0.17907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.42900	0.96;0.96	4.77	-0.413	0.12363	4.77	-0.413	0.12363	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.986339	0.08275	N	0.970796	T	0.30665	0.0772	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.37934	-0.9684	10	0.54805	T	0.06	.	0.6474	0.00821	0.4632:0.1717:0.1992:0.1658	.	72	Q9Y6Y9	LY96_HUMAN	N	72;42	ENSP00000284818:K72N;ENSP00000430533:K42N	ENSP00000284818:K72N	K	+	3	2	2	LY96	75084803	75084803	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.072000	0.11486	-0.141000	0.11374	-0.469000	0.05056	AAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015364			48	46		237	232	1		1	0		0	0	40	0		1	9.999999e-01	0	0	0	126	0	48	237
JPH1	56704	broad.mit.edu	37	8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	210					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657																																						ENST00000342232.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(628-630)gGc>gAc		junctophilin 1							50.0	55.0	53.0					8																	75227606		2203	4300	6503	SO:0001583	missense	56704	0	0					g.chr8:75227606C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.629G>A	chr8.hg19:g.75227606C>T	ENSP00000344488:p.Gly210Asp	0						p.G210D	NM_020647.2	NP_065698.1	0	0	0	1.973482	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)	2	669	-	Breast(64;0.00576)		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	1	1	hg19	c.629G>A	CCDS6217.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315710	0.81469	.	.	ENSG00000104369	ENST00000342232	T	0.59772	0.24	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81850	-0.0743	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	210	Q9HDC5	JPH1_HUMAN	D	210	ENSP00000344488:G210D	ENSP00000344488:G210D	G	-	2	0	0	JPH1	75390161	75390161	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.285000	0.78660	2.377000	0.81083	0.655000	0.94253	GGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1	0	0	1		18	2	2	1		1	1	111		111	110	1	2.060000	-20.000000	1	0.170000				96	94		480	474	1		1			1	0	111	0		1	0	0	0	0	0	0	96	480
GDAP1	54332	broad.mit.edu	37	8	75276322	75276322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75276322G>T	ENST00000220822.7	+	6	877	c.797G>T	c.(796-798)aGa>aTa	p.R266I	GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	266	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCAAGGAGAAACTGGGGA	0.478																																						ENST00000220822.7	0.420000	0.100000	3.300000e-01	1.600000e-01	0.230000	0.248315	0.230000	0.220000																										0				10						c.(796-798)aGa>aTa		ganglioside induced differentiation associated protein 1							88.0	86.0	87.0					8																	75276322		2203	4300	6503	SO:0001583	missense	54332	0	0					g.chr8:75276322G>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.797G>T	chr8.hg19:g.75276322G>T	ENSP00000220822:p.Arg266Ile	0					GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	p.R266I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	0	0	0	1.973482	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)	6	877	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	0	1	hg19	c.797G>T	CCDS34911.1	0	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083547	0.76642	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.97688	-4.49;-4.49	4.99	4.99	0.66335	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.70842	2.15	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.98190	1.0462	10	0.39692	T	0.17	-12.6828	18.8301	0.92135	0.0:0.0:1.0:0.0	.	266	Q8TB36	GDAP1_HUMAN	I	266;198	ENSP00000220822:R266I;ENSP00000417006:R198I	ENSP00000220822:R266I	R	+	2	0	0	GDAP1	75438877	75438877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.767000	0.95098	0.655000	0.94253	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	0	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-7.454607	1	0.170000	NM_018972			8	8		406	393	0		1	0		0	0	92	0		9.880692e-01	5.450642e-02	0	0	0	17	0	8	406
PI15	51050	broad.mit.edu	37	8	75756308	75756308	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	122	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			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)			GATTTTTGGGCCAAAATCTAT	0.438																																						ENST00000260113.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(364-366)ggC>ggT		peptidase inhibitor 15							161.0	158.0	159.0					8																	75756308		2203	4300	6503	SO:0001819	synonymous_variant	51050	0	0					g.chr8:75756308C>T	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.366C>T	chr8.hg19:g.75756308C>T		0					RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.G122G	p.G122G	NM_015886.3	NP_056970.1	0	0	0	1.973482	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)	3	545	+	Breast(64;0.137)		Q68CY1	Silent	SNP	ENST00000260113.2	1	1	hg19	c.366C>T	CCDS6218.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	1	0	1		2	2	2	0		0	0	176		176	172	1	2.060000	-20.000000	1	0.170000	NM_015886			147	144		810	798	1		1	0		0	0	176	0		1	4.702080e-01	0	0	0	10	0	147	810
CRISPLD1	83690	broad.mit.edu	37	8	75898234	75898234	+	Silent	SNP	C	C	T	rs182949422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	4					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17097	0.001		0.0	False		,,,				2504	0.0					ENST00000262207.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(10-12)acC>acT		cysteine-rich secretory protein LCCL domain containing 1							146.0	158.0	154.0					8																	75898234		2203	4300	6503	SO:0001819	synonymous_variant	83690	1	121412	43				g.chr8:75898234C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.12C>T	chr8.hg19:g.75898234C>T		0					CRISPLD1_ENST00000519798.1_3'UTR	p.T4T	NM_031461.5	NP_113649.1	0	0	0	1.973482	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)	2	480	+	Breast(64;0.0799)		B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	1	1	hg19	c.12C>T	CCDS6219.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	1	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-2.476616	0	0.170000	NM_031461			190	187		874	854	1		1	0		0	0	216	0		1	9.959376e-01	0	0	0	40	0	190	874
HNF4G	3174	broad.mit.edu	37	8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000354370.1	+	6	709	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	HNF4G_ENST00000396423.2_Missense_Mutation_p.L184I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	147					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)			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)			GAAACAGCAGCTCTTAGTCTT	0.358																																						ENST00000354370.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(439-441)Ctc>Atc		hepatocyte nuclear factor 4, gamma							122.0	114.0	117.0					8																	76465367		2203	4300	6503	SO:0001583	missense	3174	0	0					g.chr8:76465367C>A		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.439C>A	chr8.hg19:g.76465367C>A	ENSP00000346339:p.Leu147Ile	0					HNF4G_ENST00000396423.2_Missense_Mutation_p.L184I	p.L147I			0	0	0	1.973482	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)	6	709	+	Breast(64;0.0448)		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	1	1	hg19	c.439C>A		1	.	.	.	.	.	.	.	.	.	.	C	32	5.182110	0.94885	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97404	-4.37;-4.37	5.4	5.4	0.78164	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121290	0.56097	D	0.000027	D	0.98682	0.9558	M	0.89287	3.02	0.80722	D	1	P;D	0.59357	0.883;0.985	D;D	0.75020	0.949;0.985	D	0.99035	1.0822	9	.	.	.	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	184;147	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	147;184	ENSP00000346339:L147I;ENSP00000379701:L184I	.	L	+	1	0	0	HNF4G	76627922	76627922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	2.805000	0.96524	0.655000	0.94253	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_004133			70	69		325	316	1		1	1		0	0	83	0		1	9.675449e-01	0	6	0	22	0	70	325
ZFHX4	79776	broad.mit.edu	37	8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	101					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)			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)			CACCACTGCCCTAATGCCCGC	0.498										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				432						c.(301-303)cCt>cAt		zinc finger homeobox 4							184.0	179.0	180.0					8																	77616625		2041	4183	6224	SO:0001583	missense	79776	0	0					g.chr8:77616625C>A		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.302C>A	chr8.hg19:g.77616625C>A	ENSP00000430497:p.Pro101His	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H	p.P101H	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	2	750	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.302C>A	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	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	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.44285	U	0.000473	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.57797	-0.7749	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	101;101;101;101	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	101	ENSP00000430497:P101H;ENSP00000399605:P101H;ENSP00000050961:P101H;ENSP00000428525:P101H;ENSP00000429495:P101H;ENSP00000427775:P101H;ENSP00000427739:P101H;ENSP00000430848:P101H	ENSP00000050961:P101H	P	+	2	0	0	ZFHX4	77779180	77779180	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	187		187	185	1	2.060000	-2.632359	1	0.170000	NM_024721			149	145		680	669	1		1	0		0	0	187	0		1	8.632436e-02	0	0	0	2	0	149	680
ZFHX4	79776	broad.mit.edu	37	8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	657					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)			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)			AATATCAGCAGACCCTGGAGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2	0.640000	0.150000	5.000000e-01	2.400000e-01	0.350000	0.375904	0.350000	0.330000																										0				432						c.(1969-1971)caG>caT		zinc finger homeobox 4							63.0	66.0	65.0					8																	77618294		1961	4167	6128	SO:0001583	missense	79776	0	0					g.chr8:77618294G>T		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.1971G>T	chr8.hg19:g.77618294G>T	ENSP00000430497:p.Gln657His	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	p.Q657H	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	2	2419	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	0	1	hg19	c.1971G>T	CCDS47878.2	0	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320144	0.23994	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.63;0.64;0.61;0.6	5.3	5.3	0.74995	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.42294	U	0.000722	T	0.70937	0.3281	L	0.58302	1.8	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.86	D;D;D;P	0.85130	0.993;0.997;0.997;0.8	T	0.72620	-0.4238	10	0.87932	D	0	.	19.15	0.93483	0.0:0.0:1.0:0.0	.	657;657;657;657	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	657	ENSP00000430497:Q657H;ENSP00000399605:Q657H;ENSP00000050961:Q657H;ENSP00000430848:Q657H	ENSP00000050961:Q657H	Q	+	3	2	2	ZFHX4	77780849	77780849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.482000	0.66833	2.750000	0.94351	0.655000	0.94253	CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	0		2	2	2	0		0	0	56		56	56	1	2.060000	-8.650413	1	0.170000	NM_024721			7	6		233	224	0		1	0		0	0	56	0		9.779378e-01	1.127343e-02	0	0	0	5	0	7	233
ZFHX4	79776	broad.mit.edu	37	8	77618747	77618747	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	808					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)			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)			TCCAGCATAATCTGCACTTGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998512	0.990000	1.000000																										0				432						c.(2422-2424)aaT>aaC		zinc finger homeobox 4							26.0	27.0	27.0					8																	77618747		2051	4205	6256	SO:0001819	synonymous_variant	79776	0	0					g.chr8:77618747T>C		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.2424T>C	chr8.hg19:g.77618747T>C		0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N	p.N808N	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	2	2872	+			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	1	1	hg19	c.2424T>C	CCDS47878.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	25		25	24	1	2.060000	-20.000000	1	0.170000	NM_024721			16	16		85	84	1		1	0		0	0	25	0		9.999550e-01	7.402032e-02	0	0	0	3	0	16	85
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000455469.2_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1255					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)			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)			CAGCAGCTGCCTCTGAGAAAT	0.478										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999796	0.990000	1.000000																										0				432						c.(3898-3900)gcC>gcA		zinc finger homeobox 4							47.0	51.0	50.0					8																	77762534		1947	4144	6091	SO:0001819	synonymous_variant	79776	0	0					g.chr8:77762534C>A		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.3900C>A	chr8.hg19:g.77762534C>A		0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000455469.2_Silent_p.A1255A	p.A1300A	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	9	4348	+			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	1	1	hg19	c.3900C>A	CCDS47878.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_024721			20	20		92	91	1		1	0		0	0	23	0		9.999974e-01	3.524027e-02	0	0	0	2	0	20	92
ZFHX4	79776	broad.mit.edu	37	8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1406					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)			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)			CCACCCTGAACTGAGTGAAGC	0.502										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				432						c.(4351-4353)Ctg>Atg		zinc finger homeobox 4							42.0	41.0	41.0					8																	77763508		1984	4159	6143	SO:0001583	missense	79776	0	0					g.chr8:77763508C>A		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.4351C>A	chr8.hg19:g.77763508C>A	ENSP00000430497:p.Leu1451Met	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M	p.L1451M	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	4799	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.4351C>A	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161838	0.38217	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.48;0.52;0.47;0.49	5.01	3.12	0.35913	5.01	3.12	0.35913	Zinc finger, C2H2 (1);	0.000000	0.35615	U	0.003097	T	0.62466	0.2430	L	0.50333	1.59	0.48901	D	0.999721	D;D;D	0.76494	0.989;0.999;0.994	P;D;P	0.66979	0.786;0.948;0.894	T	0.64972	-0.6281	10	0.72032	D	0.01	.	10.7432	0.46166	0.0:0.7962:0.1309:0.0729	.	1406;1406;1451	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1451;1451;1406;1406;1425	ENSP00000430497:L1451M;ENSP00000399605:L1406M;ENSP00000050961:L1406M;ENSP00000430848:L1425M	ENSP00000050961:L1406M	L	+	1	2	2	ZFHX4	77926063	77926063	1.000000	0.71417	0.977000	0.42913	0.822000	0.46500	5.927000	0.70080	1.313000	0.45069	0.549000	0.68633	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_024721			30	29		108	106	1		1	0		0	0	33	0		1	3.079126e-01	0	0	0	5	0	30	108
ZFHX4	79776	broad.mit.edu	37	8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1619	Gln-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)			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)			AAGATACCCATTTAGATGCCA	0.448										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.860000	1	9.900000e-01	0.990000	0.989855	0.990000	1.000000																										0				432						c.(4990-4992)caT>caA		zinc finger homeobox 4							89.0	87.0	87.0					8																	77764149		1935	4134	6069	SO:0001583	missense	79776	0	0					g.chr8:77764149T>A		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.4992T>A	chr8.hg19:g.77764149T>A	ENSP00000430497:p.His1664Gln	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q	p.H1664Q	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	5440	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.4992T>A	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410196	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.93;0.9;0.89	4.41	2.47	0.30058	4.41	2.47	0.30058	.	0.000000	0.46442	U	0.000296	T	0.26195	0.0639	L	0.44542	1.39	0.37302	D	0.908734	B;B;B	0.29508	0.159;0.246;0.246	B;B;B	0.26416	0.031;0.069;0.069	T	0.07731	-1.0757	10	0.13470	T	0.59	.	4.5736	0.12223	0.0:0.4457:0.0:0.5543	.	1619;1619;1664	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1664;1664;1619;1619;1638	ENSP00000430497:H1664Q;ENSP00000399605:H1619Q;ENSP00000050961:H1619Q;ENSP00000430848:H1638Q	ENSP00000050961:H1619Q	H	+	3	2	2	ZFHX4	77926704	77926704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.937000	0.28951	1.104000	0.41587	0.443000	0.29094	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_024721			40	39		352	344	1		1	0		0	0	75	0		1	3.079117e-02	0	0	0	3	0	40	352
ZFHX4	79776	broad.mit.edu	37	8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1864					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)			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)			GGAAATGCTGCCAAAGCGTTA	0.458										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999179	0.990000	1.000000																										0				432						c.(5725-5727)gCc>gAc		zinc finger homeobox 4							27.0	25.0	26.0					8																	77764883		1896	4109	6005	SO:0001583	missense	79776	0	0					g.chr8:77764883C>A		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.5726C>A	chr8.hg19:g.77764883C>A	ENSP00000430497:p.Ala1909Asp	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D	p.A1909D	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	6174	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.5726C>A	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279827	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.000000	0.41823	U	0.000808	T	0.54598	0.1868	M	0.68952	2.095	0.80722	D	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.47573	0.348;0.55;0.55	T	0.54820	-0.8236	10	0.32370	T	0.25	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1864;1864;1909	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1909;1909;1864;1864;1883	ENSP00000430497:A1909D;ENSP00000399605:A1864D;ENSP00000050961:A1864D;ENSP00000430848:A1883D	ENSP00000050961:A1864D	A	+	2	0	0	ZFHX4	77927438	77927438	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.594000	0.82698	2.631000	0.89168	0.632000	0.83419	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_024721			18	18		94	91	1		1	0		0	0	29	0		9.999867e-01	5.594240e-01	0	0	0	11	0	18	94
ZFHX4	79776	broad.mit.edu	37	8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507					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)			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)			TGGACAACTGCTGGGCAGTTC	0.517										HNSCC(33;0.089)																												ENST00000521891.2	0.500000	0.170000	4.100000e-01	2.300000e-01	0.310000	0.325286	0.310000	0.300000																										0				432						c.(7654-7656)Ctg>Atg		zinc finger homeobox 4							96.0	95.0	95.0					8																	77766811		1956	4140	6096	SO:0001583	missense	79776	0	0					g.chr8:77766811C>A		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.7654C>A	chr8.hg19:g.77766811C>A	ENSP00000430497:p.Leu2552Met	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M	p.L2552M	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	8102	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.7654C>A	CCDS47878.2	0	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885405	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.34;0.4;0.37;0.37	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.36628	U	0.002491	T	0.72748	0.3499	M	0.71581	2.175	0.54753	D	0.999984	D;D;P	0.69078	0.994;0.997;0.864	D;D;P	0.75484	0.98;0.986;0.706	T	0.72204	-0.4361	10	0.49607	T	0.09	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2507;2507;2552	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2552;2536;2507;2507;2526	ENSP00000430497:L2552M;ENSP00000399605:L2507M;ENSP00000050961:L2507M;ENSP00000430848:L2526M	ENSP00000050961:L2507M	L	+	1	2	2	ZFHX4	77929366	77929366	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.780000	0.68956	2.791000	0.96007	0.650000	0.86243	CTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-11.400400	1	0.170000	NM_024721			13	13		480	466	0		1	0		0	0	109	0		9.994487e-01	1.176998e-02	0	0	0	6	0	13	480
ZFHX4	79776	broad.mit.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926					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.R2955C(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)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.980000	1	9.900000e-01	0.990000	0.997870	0.990000	1.000000																										1	Substitution - Missense(1)	p.R2955C(1)	kidney(1)	432						c.(8911-8913)Cgc>Tgc		zinc finger homeobox 4							62.0	58.0	60.0					8																	77768068		1944	4141	6085	SO:0001583	missense	79776	0	0					g.chr8:77768068C>T		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.8911C>T	chr8.hg19:g.77768068C>T	ENSP00000430497:p.Arg2971Cys	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C	p.R2971C	NM_024721.4	NP_078997.4	0	0	0	1.973482	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	9359	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	1	1	hg19	c.8911C>T	CCDS47878.2	1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	0	ZFHX4	77930623	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_024721			25	25		171	171	1		1	0		0	0	50	0		9.999999e-01	2.841814e-01	0	0	0	8	0	25	171
IL7	3574	broad.mit.edu	37	8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000520269.1_Missense_Mutation_p.H70R|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Missense_Mutation_p.H19R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	70					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)			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274																																						ENST00000263851.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				5						c.(208-210)cAt>cGt		interleukin 7							43.0	45.0	44.0					8																	79652256		2194	4275	6469	SO:0001583	missense	3574	2	121302	27				g.chr8:79652256T>C	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.209A>G	chr8.hg19:g.79652256T>C	ENSP00000263851:p.His70Arg	0					IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.H70R	p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	0	0	0	1.973482	P13232	IL7_HUMAN		3	809	-			A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	1	1	hg19	c.209A>G	CCDS6224.1	1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965768	0.53507	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.381500	0.22540	N	0.058737	T	0.51449	0.1675	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.61070	0.883;0.865	T	0.45264	-0.9273	9	.	.	.	.	11.3049	0.49329	0.0:0.0:0.0:1.0	.	70;70	P13232;Q5FBY9	IL7_HUMAN;.	R	70;70;67;19	ENSP00000263851:H70R;ENSP00000427750:H70R;ENSP00000438922:H19R	.	H	-	2	0	0	IL7	79814811	79814811	1.000000	0.71417	0.989000	0.46669	0.580000	0.36256	3.252000	0.51461	2.234000	0.73211	0.460000	0.39030	CAT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-14.958310	1	0.170000				21	21		87	83	1		1	1		0	0	30	0		9.999984e-01	8.408286e-01	0	5	0	11	0	21	87
STMN2	11075	broad.mit.edu	37	8	80549083	80549083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000220876.7	+	2	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	22	Membrane attachment. {ECO:0000255}.				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)			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)			CACTGATCTGCTCTTGCTTTT	0.393																																						ENST00000220876.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(64-66)tgC>tgT		stathmin 2							121.0	111.0	114.0					8																	80549083		1923	4156	6079	SO:0001819	synonymous_variant	11075	0	0					g.chr8:80549083C>T		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.66C>T	chr8.hg19:g.80549083C>T		0					STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	p.C22C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	0	0	0	1.973482	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)	2	448	+	all_lung(9;8.34e-05)		A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	1	1	hg19	c.66C>T	CCDS43748.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_007029			77	77		351	342	1		1	1		0	0	63	0		1	9.999966e-01	0	2	0	83	0	77	351
ZNF704	619279	broad.mit.edu	37	8	81599496	81599496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	175							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGAAGAGCAGGTTGCTGGCC	0.632											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327835.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994113	0.990000	1.000000																										0				11						c.(523-525)Ctg>Ttg		zinc finger protein 704							54.0	52.0	52.0					8																	81599496		2164	4263	6427	SO:0001819	synonymous_variant	619279	0	0					g.chr8:81599496G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.523C>T	chr8.hg19:g.81599496G>A		0		OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ZNF704_ENST00000520336.1_5'UTR	p.L175L	NM_001033723.2	NP_001028895.1	0	0	0	1.973482	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)	4	754	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	1	1	hg19	c.523C>T	CCDS34913.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-16.500140	1	0.170000	NM_001033723			49	48		424	419	1		1	0		0	0	95	0		1	7.060139e-01	0	0	0	23	0	49	424
PAG1	55824	broad.mit.edu	37	8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	315					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)			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)			TGAGTACATAGCTGAGATCTA	0.473																																						ENST00000220597.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(943-945)gCt>gAt		phosphoprotein membrane anchor with glycosphingolipid microdomains 1							86.0	91.0	90.0					8																	81889134		2203	4300	6503	SO:0001583	missense	55824	0	0					g.chr8:81889134G>T	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.944C>A	chr8.hg19:g.81889134G>T	ENSP00000220597:p.Ala315Asp	0					PAG1_ENST00000523463.1_5'Flank	p.A315D	NM_018440.3	NP_060910.3	0	0	0	1.973482	Q9NWQ8	PHAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)	9	1654	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	1	1	hg19	c.944C>A	CCDS6227.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827193	0.90955	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.119572	0.56097	D	0.000027	T	0.77329	0.4114	M	0.67953	2.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	9	0.20519	T	0.43	-15.1381	19.0444	0.93013	0.0:0.0:1.0:0.0	.	315	Q9NWQ8	PAG1_HUMAN	D	315	.	ENSP00000220597:A315D	A	-	2	0	0	PAG1	82051689	82051689	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.973000	0.76116	2.604000	0.88044	0.655000	0.94253	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	1	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-20.000000	1	0.170000	NM_018440			86	83		363	358	1		1	0		0	0	79	0		1	9.935580e-01	0	0	0	35	0	86	363
FABP9	646480	broad.mit.edu	37	8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	99					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328																																						ENST00000379071.2	0.860000	0.300000	7.000000e-01	4.100000e-01	0.540000	0.563994	0.540000	0.530000																										0				6						c.(295-297)Ctt>Att		fatty acid binding protein 9, testis							103.0	95.0	98.0					8																	82370890		2201	4300	6501	SO:0001583	missense	646480	0	0					g.chr8:82370890G>T			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.295C>A	chr8.hg19:g.82370890G>T	ENSP00000368362:p.Leu99Ile	0					RP11-157I4.4_ENST00000524085.2_RNA	p.L99I	NM_001080526.1	NP_001073995.1	0	0	0	1.973482	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)	3	350	-				Missense_Mutation	SNP	ENST00000379071.2	1	1	hg19	c.295C>A		0	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643769	0.29246	.	.	ENSG00000205186	ENST00000379071	T	0.07800	3.16	5.28	4.41	0.53225	5.28	4.41	0.53225	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.181563	0.45606	D	0.000357	T	0.06554	0.0168	N	0.22421	0.69	0.27626	N	0.94819	B	0.06786	0.001	B	0.19148	0.024	T	0.18304	-1.0341	10	0.87932	D	0	.	8.8977	0.35474	0.0:0.1633:0.6672:0.1695	.	99	Q0Z7S8	FABP9_HUMAN	I	99	ENSP00000368362:L99I	ENSP00000368362:L99I	L	-	1	0	0	FABP9	82533445	82533445	0.998000	0.40836	0.992000	0.48379	0.537000	0.34900	1.881000	0.39638	1.459000	0.47892	-0.152000	0.13540	CTT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-4.205563	1	0.170000	NM_001080526			13	13		268	263	0		1			0	0	60	0		9.995122e-01	0	0	0	0	0	0	13	268
FABP4	2167	broad.mit.edu	37	8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	110					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(328-330)gaG>gaT		fatty acid binding protein 4, adipocyte							302.0	270.0	281.0					8																	82391667		2203	4300	6503	SO:0001583	missense	2167	0	0					g.chr8:82391667C>A	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.330G>T	chr8.hg19:g.82391667C>A	ENSP00000256104:p.Glu110Asp	0					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.E110D	NM_001442.2	NP_001433.1	0	0	0	1.973482	P15090	FABP4_HUMAN	Epithelial(68;0.213)	3	425	-			Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	1	1	hg19	c.330G>T	CCDS6230.1	1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031752	0.19590	.	.	ENSG00000170323	ENST00000256104	T	0.08458	3.09	5.56	3.71	0.42584	5.56	3.71	0.42584	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477666	0.24683	N	0.036444	T	0.03520	0.0101	N	0.08118	0	0.33815	D	0.628387	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.3675	0.16121	0.1482:0.6352:0.0:0.2166	.	110	P15090	FABP4_HUMAN	D	110	ENSP00000256104:E110D	ENSP00000256104:E110D	E	-	3	2	2	FABP4	82554222	82554222	0.567000	0.26626	1.000000	0.80357	0.961000	0.63080	-0.082000	0.11304	0.779000	0.33543	0.655000	0.94253	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.032930	1	0.170000	NM_001442			50	47		265	260	1		1	0		0	0	69	0		1	3.126711e-01	0	0	0	7	0	50	265
SLC10A5	347051	broad.mit.edu	37	8	82606167	82606167	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	347						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383																																						ENST00000518568.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1039-1041)ggT>ggC		solute carrier family 10, member 5							70.0	70.0	70.0					8																	82606167		2203	4300	6503	SO:0001819	synonymous_variant	347051	0	0					g.chr8:82606167A>G		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.1041T>C	chr8.hg19:g.82606167A>G		0						p.G347G	NM_001010893.2	NP_001010893.1	0	0	0	1.973482	Q5PT55	NTCP5_HUMAN		1	2242	-			B2RN26	Silent	SNP	ENST00000518568.1	1	1	hg19	c.1041T>C	CCDS34915.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	XM_294493			64	59		248	242	1		1	0		0	0	56	0		1	4.309825e-02	0	0	0	2	0	64	248
SLC10A5	347051	broad.mit.edu	37	8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	147						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343																																						ENST00000518568.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(439-441)Att>Gtt		solute carrier family 10, member 5							93.0	92.0	92.0					8																	82606769		2203	4300	6503	SO:0001583	missense	347051	1	121412	31				g.chr8:82606769T>C		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.439A>G	chr8.hg19:g.82606769T>C	ENSP00000428612:p.Ile147Val	0						p.I147V	NM_001010893.2	NP_001010893.1	0	0	0	1.973482	Q5PT55	NTCP5_HUMAN		1	1640	-			B2RN26	Missense_Mutation	SNP	ENST00000518568.1	1	1	hg19	c.439A>G	CCDS34915.1	1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035759	0.07497	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-2.11	0.07187	6.17	-2.11	0.07187	.	0.780519	0.11152	N	0.594054	T	0.02533	0.0077	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.44314	-0.9336	10	0.07990	T	0.79	-2.728	0.1022	0.00049	0.2512:0.2181:0.2353:0.2954	.	147	Q5PT55	NTCP5_HUMAN	V	147	ENSP00000428612:I147V	ENSP00000428612:I147V	I	-	1	0	0	SLC10A5	82769324	82769324	0.744000	0.28250	0.157000	0.22605	0.064000	0.16182	-0.299000	0.08254	-0.588000	0.05882	0.533000	0.62120	ATT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	0		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000	XM_294493			68	66		303	301	1		1	0		0	0	72	0		1	3.462316e-02	0	0	0	2	0	68	303
SLC10A5	347051	broad.mit.edu	37	8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	123						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358																																						ENST00000518568.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(367-369)gTc>gCc		solute carrier family 10, member 5							147.0	137.0	140.0					8																	82606840		2203	4300	6503	SO:0001583	missense	347051	0	0					g.chr8:82606840A>G		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.368T>C	chr8.hg19:g.82606840A>G	ENSP00000428612:p.Val123Ala	0						p.V123A	NM_001010893.2	NP_001010893.1	0	0	0	1.973482	Q5PT55	NTCP5_HUMAN		1	1569	-			B2RN26	Missense_Mutation	SNP	ENST00000518568.1	1	1	hg19	c.368T>C	CCDS34915.1	1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546548	0.45383	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.17	5.01	0.66863	6.17	5.01	0.66863	.	0.674660	0.12872	N	0.432189	T	0.07279	0.0184	L	0.27053	0.805	0.25180	N	0.990217	P	0.42871	0.792	B	0.35182	0.197	T	0.24012	-1.0172	10	0.28530	T	0.3	-6.5206	9.4185	0.38536	0.9187:0.0:0.0813:0.0	.	123	Q5PT55	NTCP5_HUMAN	A	123	ENSP00000428612:V123A	ENSP00000428612:V123A	V	-	2	0	0	SLC10A5	82769395	82769395	0.970000	0.33590	0.996000	0.52242	0.901000	0.52897	3.086000	0.50159	2.371000	0.80710	0.533000	0.62120	GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	0		2	2	2	0		0	0	99		99	98	1	2.060000	-20.000000	1	0.170000	XM_294493			68	68		347	339	1		1			0	0	99	0		1	0	0	0	0	0	0	68	347
ZFAND1	79752	broad.mit.edu	37	8	82615252	82615252	+	Silent	SNP	G	G	A	rs142017081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82615252G>A	ENST00000220669.5	-	7	606	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZFAND1_ENST00000523096.1_Silent_p.A189A|ZFAND1_ENST00000522520.1_Silent_p.A89A|ZFAND1_ENST00000521895.1_Silent_p.A89A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.A196A|ZFAND1_ENST00000521287.1_Silent_p.A89A|ZFAND1_ENST00000517588.1_Silent_p.A89A	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	196							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTAGAGAAGCGGCAAAGTCTA	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16964	0.0		0.0	False		,,,				2504	0.001					ENST00000220669.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				13						c.(586-588)gcC>gcT		zinc finger, AN1-type domain 1		G	,,	2,4400		0,2,2199	28.0	24.0	25.0		567,588,588	-8.7	0.2	8	dbSNP_134	25	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFAND1	NM_001170796.1,NM_001170797.1,NM_024699.2	,,	0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231	,,	189/262,196/228,196/269	82615252	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	79752	19	121374	38				g.chr8:82615252G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.588C>T	chr8.hg19:g.82615252G>A		0					ZFAND1_ENST00000517588.1_Silent_p.A89A|ZFAND1_ENST00000519523.1_Silent_p.A196A|ZFAND1_ENST00000521895.1_Silent_p.A89A|ZFAND1_ENST00000522520.1_Silent_p.A89A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521287.1_Silent_p.A89A|ZFAND1_ENST00000523096.1_Silent_p.A189A	p.A196A	NM_024699.2	NP_078975.2	0	0	0	1.973482	Q8TCF1	ZFAN1_HUMAN		7	606	-			E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Silent	SNP	ENST00000220669.5	0	0	hg19	c.588C>T	CCDS6232.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	1	0	0		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_024699			22	21		83	82	1		1	1		0	0	12	0		9.999994e-01	1	0	37	0	117	0	22	83
SNX16	64089	broad.mit.edu	37	8	82714673	82714673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82714673G>A	ENST00000345957.4	-	7	1158	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SNX16_ENST00000353788.4_Silent_p.L265L|SNX16_ENST00000396330.2_Silent_p.L294L|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	294					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCCACCTTTAGGATCTGTTCA	0.338																																						ENST00000345957.4	0.690000	0.150000	5.200000e-01	2.400000e-01	0.360000	0.388522	0.360000	0.340000																										0				5						c.(880-882)Cta>Tta		sorting nexin 16							107.0	103.0	104.0					8																	82714673		2203	4300	6503	SO:0001819	synonymous_variant	64089	0	0					g.chr8:82714673G>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.880C>T	chr8.hg19:g.82714673G>A		0					SNX16_ENST00000353788.4_Silent_p.L265L|SNX16_ENST00000396330.2_Silent_p.L294L|RP13-923O23.6_ENST00000524337.1_RNA	p.L294L	NM_152836.2	NP_690049.1	0	0	0	1.973482	P57768	SNX16_HUMAN		7	1158	-			A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	0	1	hg19	c.880C>T	CCDS6234.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	0	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-3.034842	1	0.170000	NM_022133			6	6		196	192	0		1	1		0	0	36	0		9.634541e-01	5.374554e-01	0	3	0	52	0	6	196
LRRCC1	85444	broad.mit.edu	37	8	86042165	86042165	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000360375.3	+	11	1787	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	LRRCC1_ENST00000414626.2_Silent_p.I526I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	546					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363																																						ENST00000360375.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1636-1638)atC>atA		leucine rich repeat and coiled-coil centrosomal protein 1							90.0	94.0	93.0					8																	86042165		1824	4081	5905	SO:0001819	synonymous_variant	85444	0	0					g.chr8:86042165C>A	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.1638C>A	chr8.hg19:g.86042165C>A		0					LRRCC1_ENST00000414626.2_Silent_p.I526I	p.I546I	NM_033402.4	NP_208325.3	0	0	0	1.973482	Q9C099	LRCC1_HUMAN		11	1787	+			B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	1	1	hg19	c.1638C>A	CCDS43750.1	1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401444	0.11696	.	.	ENSG00000133739	ENST00000426019	.	.	.	5.27	1.93	0.25924	5.27	1.93	0.25924	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10660	-1.0620	5	0.21014	T	0.42	-0.2633	5.4284	0.16440	0.0:0.3821:0.1529:0.465	.	.	.	.	T	266	.	ENSP00000400370:P266T	P	+	1	0	0	LRRCC1	86229417	86229417	0.954000	0.32549	0.949000	0.38748	0.763000	0.43281	0.082000	0.14847	0.158000	0.19367	-0.345000	0.07892	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	1	0	0		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_033402			87	85		427	420	0		1	1		0	0	95	0		1	9.968947e-01	0	13	0	32	0	87	427
LRRCC1	85444	broad.mit.edu	37	8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000360375.3	+	11	1818	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D537N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	557					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373																																						ENST00000360375.3	1.000000	0.700000	1	8.200000e-01	0.950000	0.925915	0.950000	1.000000																										0				43						c.(1669-1671)Gat>Aat		leucine rich repeat and coiled-coil centrosomal protein 1							92.0	96.0	94.0					8																	86042196		1834	4087	5921	SO:0001583	missense	85444	1	120804	37				g.chr8:86042196G>A	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.1669G>A	chr8.hg19:g.86042196G>A	ENSP00000353538:p.Asp557Asn	0					LRRCC1_ENST00000414626.2_Missense_Mutation_p.D537N	p.D557N	NM_033402.4	NP_208325.3	0	0	0	1.973482	Q9C099	LRCC1_HUMAN		11	1818	+			B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	1	1	hg19	c.1669G>A	CCDS43750.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.982000|2.982000	0.53827|0.53827	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.21|5.21	4.33|4.33	0.51752|0.51752	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.37348|.	N|.	0.002140|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.29908|0.29908	0.895|0.895	0.28037|0.28037	N|N	0.93392|0.93392	D;P;D;P|.	0.62365|.	0.974;0.954;0.991;0.743|.	B;B;P;B|.	0.46299|.	0.288;0.441;0.511;0.08|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|6	0.48119|0.87932	T|D	0.1|0	-23.6791|-23.6791	11.1003|11.1003	0.48170|0.48170	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	464;537;464;557|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	N|Q	557;537|276	ENSP00000353538:D557N;ENSP00000394695:D537N|.	ENSP00000353538:D557N|ENSP00000400370:R276Q	D|R	+|+	1|2	0|0	0|0	LRRCC1|LRRCC1	86229448|86229448	86229448|86229448	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.832000|3.832000	0.55783|0.55783	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAT|CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	1	0	0		2	2	2	0		0	0	101		101	101	1	2.060000	-3.318793	1	0.170000	NM_033402			42	42		467	455	0		1	1		0	0	101	0		1	8.768868e-01	0	4	0	39	0	42	467
E2F5	1875	broad.mit.edu	37	8	86115389	86115389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000416274.2	+	3	439	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000418930.2_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	135	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338																																						ENST00000416274.2	1.000000	0.770000	1	9.900000e-01	0.990000	0.983400	0.990000	1.000000																										0				8						c.(403-405)gcT>gcC		E2F transcription factor 5, p130-binding							56.0	54.0	55.0					8																	86115389		1845	4095	5940	SO:0001819	synonymous_variant	1875	0	0					g.chr8:86115389T>C	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.405T>C	chr8.hg19:g.86115389T>C		0					E2F5_ENST00000418930.2_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A	p.A135A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	0	0	0	1.973482	Q15329	E2F5_HUMAN		3	439	+			E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	1	1	hg19	c.405T>C	CCDS47885.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-8.249835	1	0.170000	NM_001951			13	13		96	93	1		1	1		0	0	30	0		9.995728e-01	9.053019e-01	0	9	0	24	0	13	96
E2F5	1875	broad.mit.edu	37	8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000416274.2	+	3	528	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000418930.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	165	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGGACGATTCCATTAATAAT	0.303																																						ENST00000416274.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				8						c.(493-495)tCc>tAc		E2F transcription factor 5, p130-binding							57.0	55.0	56.0					8																	86115478		1832	4093	5925	SO:0001583	missense	1875	0	0					g.chr8:86115478C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.494C>A	chr8.hg19:g.86115478C>A	ENSP00000398124:p.Ser165Tyr	0					E2F5_ENST00000418930.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y	p.S165Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	0	0	0	1.973482	Q15329	E2F5_HUMAN		3	528	+			E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	1	1	hg19	c.494C>A	CCDS47885.1	1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468270	0.63625	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.050297	0.85682	D	0.000000	D	0.88890	0.6560	M	0.69823	2.125	0.80722	D	1	P;P	0.48089	0.905;0.847	P;B	0.49085	0.6;0.284	D	0.89516	0.3775	10	0.59425	D	0.04	-2.4367	19.4996	0.95089	0.0:1.0:0.0:0.0	.	165;165	Q15329-2;Q15329	.;E2F5_HUMAN	Y	165;165;165;4	ENSP00000414312:S165Y;ENSP00000256117:S165Y;ENSP00000398124:S165Y;ENSP00000429120:S4Y	ENSP00000256117:S165Y	S	+	2	0	0	E2F5	86302730	86302730	0.983000	0.35010	1.000000	0.80357	0.926000	0.56050	7.718000	0.84743	2.606000	0.88127	0.650000	0.86243	TCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	0		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_001951			23	23		95	95	1		1	1		0	0	37	0		9.999997e-01	8.647960e-01	0	2	0	15	0	23	95
E2F5	1875	broad.mit.edu	37	8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000416274.2	+	6	747	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.P238H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	238					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453																																						ENST00000416274.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999864	0.990000	1.000000																										0				8						c.(712-714)cCc>cAc		E2F transcription factor 5, p130-binding							140.0	139.0	139.0					8																	86121474		1967	4146	6113	SO:0001583	missense	1875	0	0					g.chr8:86121474C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.713C>A	chr8.hg19:g.86121474C>A	ENSP00000398124:p.Pro238His	0					E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000418930.2_Missense_Mutation_p.P238H|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H	p.P238H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	0	0	0	1.973482	Q15329	E2F5_HUMAN		6	747	+			E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	1	1	hg19	c.713C>A	CCDS47885.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460149	0.84317	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	6.13	5.25	0.73442	6.13	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.99	D	0.95449	0.8532	10	0.59425	D	0.04	-17.471	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	65;238;238	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	238;239;238;77;65;74	ENSP00000414312:P238H;ENSP00000256117:P239H;ENSP00000398124:P238H;ENSP00000429120:P77H;ENSP00000428606:P65H;ENSP00000429669:P74H	ENSP00000256117:P239H	P	+	2	0	0	E2F5	86308726	86308726	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.483000	0.81158	1.601000	0.50113	0.650000	0.86243	CCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_001951			39	38		247	243	1		1	1		0	0	59	0		1	9.887137e-01	0	8	0	39	0	39	247
E2F5	1875	broad.mit.edu	37	8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000416274.2	+	6	782	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.T250A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	250					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483																																						ENST00000416274.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999790	0.990000	1.000000																										0				8						c.(748-750)Aca>Gca		E2F transcription factor 5, p130-binding							112.0	112.0	112.0					8																	86121509		2007	4185	6192	SO:0001583	missense	1875	0	0					g.chr8:86121509A>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.748A>G	chr8.hg19:g.86121509A>G	ENSP00000398124:p.Thr250Ala	0					E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A|E2F5_ENST00000418930.2_Missense_Mutation_p.T250A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A	p.T250A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	0	0	0	1.973482	Q15329	E2F5_HUMAN		6	782	+			E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	1	1	hg19	c.748A>G	CCDS47885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.274|4.274	0.050017|0.050017	0.08243|0.08243	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.86562	.|-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	6.13|6.13	4.98|4.98	0.66077|0.66077	6.13|6.13	4.98|4.98	0.66077|0.66077	.|.	.|0.486351	.|0.24282	.|N	.|0.039882	T|T	0.73923|0.73923	0.3649|0.3649	N|N	0.20986|0.20986	0.625|0.625	0.33317|0.33317	D|D	0.566848|0.566848	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.10450	.|0.001;0.005;0.002	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.08179	.|T	.|0.78	-13.1823|-13.1823	6.1664|6.1664	0.20392|0.20392	0.715:0.138:0.147:0.0|0.715:0.138:0.147:0.0	.|.	.|77;250;250	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	R|A	21|250;251;250;89;77;86	.|ENSP00000414312:T250A;ENSP00000256117:T251A;ENSP00000398124:T250A;ENSP00000429120:T89A;ENSP00000428606:T77A;ENSP00000429669:T86A	.|ENSP00000256117:T251A	H|T	+|+	2|1	0|0	0|0	E2F5|E2F5	86308761|86308761	86308761|86308761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.170000|2.170000	0.42443|0.42443	1.155000|1.155000	0.42497|0.42497	0.529000|0.529000	0.55759|0.55759	CAC|ACA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	0	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-17.244980	1	0.170000	NM_001951			37	35		237	229	1		1	1		0	0	59	0		1	9.976545e-01	0	15	0	45	0	37	237
CA3	761	broad.mit.edu	37	8	86352068	86352068	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	54					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)			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)	ATGATGGTGGCTCTGCCAAGA	0.463																																						ENST00000285381.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(160-162)ggC>ggA		carbonic anhydrase III, muscle specific	Acetazolamide(DB00819)|Zonisamide(DB00909)						115.0	97.0	103.0					8																	86352068		2203	4300	6503	SO:0001819	synonymous_variant	761	0	0					g.chr8:86352068C>A	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.162C>A	chr8.hg19:g.86352068C>A		0					RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	p.G54G	NM_005181.3	NP_005172.1	0	0	0	1.973482	P07451	CAH3_HUMAN		2	245	+			B2R867|B3KUC8|O60842	Silent	SNP	ENST00000285381.2	1	1	hg19	c.162C>A	CCDS6238.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.416997	1	0.170000	NM_005181			64	65		289	286	1		1	0		0	0	60	0		1	0	0	0	0	1	0	64	289
SLC7A13	157724	broad.mit.edu	37	8	87229945	87229945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388																																						ENST00000297524.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(931-933)tcG>tcA		solute carrier family 7 (anionic amino acid transporter), member 13							84.0	97.0	93.0					8																	87229945		2203	4297	6500	SO:0001819	synonymous_variant	157724	5	121408	40				g.chr8:87229945C>T	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.933G>A	chr8.hg19:g.87229945C>T		0					SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	p.S311S	NM_138817.2	NP_620172.2	0	0	0	1.973482	Q8TCU3	S7A13_HUMAN		3	1036	-			Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	1	1	hg19	c.933G>A	CCDS34917.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	1	0	1		2	2	2	0		0	0	124		124	122	1	2.060000	-3.144633	1	0.170000	NM_138817			109	108		571	560	1		1			0	0	124	0		1	0	0	0	0	0	0	109	571
SLC7A13	157724	broad.mit.edu	37	8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	rs146811954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	4						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358																																						ENST00000297524.3	1.000000	0.570000	1	7.000000e-01	0.860000	0.853878	0.860000	1.000000																										0				45						c.(10-12)Ggg>Agg		solute carrier family 7 (anionic amino acid transporter), member 13							41.0	43.0	42.0					8																	87242497		2203	4297	6500	SO:0001583	missense	157724	0	0					g.chr8:87242497C>T	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.10G>A	chr8.hg19:g.87242497C>T	ENSP00000297524:p.Gly4Arg	0					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	p.G4R	NM_138817.2	NP_620172.2	0	0	0	1.973482	Q8TCU3	S7A13_HUMAN		1	113	-			Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	1	1	hg19	c.10G>A	CCDS34917.1	1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.279145	0.10458	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90676	-2.42;-2.71	3.63	-0.275	0.12906	3.63	-0.275	0.12906	.	1.394900	0.04747	N	0.423834	D	0.85561	0.5725	L	0.46819	1.47	0.09310	N	1	P;B	0.35542	0.508;0.025	B;B	0.31290	0.127;0.01	T	0.72646	-0.4230	10	0.41790	T	0.15	.	6.6284	0.22843	0.0:0.568:0.0:0.432	.	4;4	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	4	ENSP00000297524:G4R;ENSP00000410982:G4R	ENSP00000297524:G4R	G	-	1	0	0	SLC7A13	87311613	87311613	0.131000	0.22433	0.001000	0.08648	0.352000	0.29268	1.084000	0.30828	-0.075000	0.12798	0.609000	0.83330	GGG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-2.920853	1	0.170000	NM_138817			25	25		312	307	0		1			0	0	62	0		9.999998e-01	0	0	0	0	0	0	25	312
WWP1	11059	broad.mit.edu	37	8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	63	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318																																						ENST00000517970.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				31						c.(187-189)Aaa>Caa		WW domain containing E3 ubiquitin protein ligase 1							72.0	69.0	70.0					8																	87393071		2203	4299	6502	SO:0001583	missense	11059	0	0					g.chr8:87393071A>C	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.187A>C	chr8.hg19:g.87393071A>C	ENSP00000427793:p.Lys63Gln	0					WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q	p.K63Q	NM_007013.3	NP_008944.1	0	0	0	1.973482	Q9H0M0	WWP1_HUMAN		4	494	+			O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	1	1	hg19	c.187A>C	CCDS6242.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691670	0.48097	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69435	-0.4;-0.4;-0.4	5.69	5.69	0.88448	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056242	0.64402	D	0.000001	T	0.74997	0.3790	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.71414	0.973	T	0.74805	-0.3540	10	0.42905	T	0.14	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	63	Q9H0M0	WWP1_HUMAN	Q	63	ENSP00000427793:K63Q;ENSP00000265428:K63Q;ENSP00000340564:K63Q	ENSP00000265428:K63Q	K	+	1	0	0	WWP1	87462187	87462187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.237000	0.89807	2.153000	0.67306	0.482000	0.46254	AAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_007013			28	28		126	121	1		1	1		0	0	35	0		1	1	0	70	0	116	0	28	126
CPNE3	8895	broad.mit.edu	37	8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	176	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)			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						ACTGGCTAATGGTTCATCGGA	0.328																																						ENST00000521271.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(526-528)atG>atT		copine III							131.0	119.0	123.0					8																	87549859		2203	4300	6503	SO:0001583	missense	8895	0	0					g.chr8:87549859G>T	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.528G>T	chr8.hg19:g.87549859G>T	ENSP00000430934:p.Met176Ile	0					CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	p.M176I	NM_003909.3	NP_003900.1	0	0	0	1.973482	O75131	CPNE3_HUMAN		7	690	+			A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	1	1	hg19	c.528G>T	CCDS6243.1	1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809466	0.31961	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.38077	1.16;1.16;1.16	5.63	5.63	0.86233	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089993	0.85682	D	0.000000	T	0.22742	0.0549	N	0.16166	0.38	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.06789	-1.0807	10	0.22706	T	0.39	-23.7135	13.9088	0.63853	0.0727:0.0:0.9273:0.0	.	176	O75131	CPNE3_HUMAN	I	176	ENSP00000198765:M176I;ENSP00000430934:M176I;ENSP00000427791:M176I	ENSP00000198765:M176I	M	+	3	0	0	CPNE3	87618975	87618975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.463000	0.66712	2.644000	0.89710	0.655000	0.94253	ATG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.411447	1	0.170000				84	83		342	337	1		1	1		0	0	85	0		1	1	0	60	0	209	0	84	342
DCAF4L2	138009	broad.mit.edu	37	8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	137										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						GGGAATCCAAGTGATTCAGTG	0.562																																						ENST00000319675.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				83						c.(409-411)caC>caA		DDB1 and CUL4 associated factor 4-like 2							104.0	98.0	100.0					8																	88885789		2203	4300	6503	SO:0001583	missense	138009	0	0					g.chr8:88885789G>T	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.411C>A	chr8.hg19:g.88885789G>T	ENSP00000316496:p.His137Gln	0						p.H137Q	NM_152418.3	NP_689631.1	0	0	0	1.973482	Q8NA75	DC4L2_HUMAN		1	507	-				Missense_Mutation	SNP	ENST00000319675.3	1	1	hg19	c.411C>A	CCDS6245.1	1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590654	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-2.28	0.06826	1.39	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.154096	0.64402	D	0.000012	T	0.46814	0.1412	L	0.39397	1.21	0.33377	D	0.574384	B	0.20671	0.047	B	0.18561	0.022	T	0.34502	-0.9826	10	0.17832	T	0.49	.	6.4598	0.21950	0.4841:0.0:0.5159:0.0	.	137	Q8NA75	DC4L2_HUMAN	Q	137	ENSP00000316496:H137Q	ENSP00000316496:H137Q	H	-	3	2	2	DCAF4L2	88954905	88954905	1.000000	0.71417	0.021000	0.16686	0.090000	0.18270	1.251000	0.32862	-0.661000	0.05345	-0.444000	0.05651	CAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_152418			79	79		399	392	1		1			0	0	91	0		1	0	0	0	0	0	0	79	399
MMP16	4325	broad.mit.edu	37	8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	502					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTTTCCTTTGTAGAAATACGT	0.388																																						ENST00000286614.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				81						c.(1504-1506)tAc>tCc		matrix metallopeptidase 16 (membrane-inserted)	Marimastat(DB00786)						128.0	112.0	117.0					8																	89054008		2203	4300	6503	SO:0001583	missense	4325	0	0					g.chr8:89054008T>G	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.1505A>C	chr8.hg19:g.89054008T>G	ENSP00000286614:p.Tyr502Ser	0						p.Y502S	NM_005941.4	NP_005932.2	0	0	0	1.973482	P51512	MMP16_HUMAN		10	1786	-			B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	1	1	hg19	c.1505A>C	CCDS6246.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175308	0.78564	.	.	ENSG00000156103	ENST00000286614	T	0.02579	4.24	5.86	5.86	0.93980	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.91972	3.26	0.80722	D	1	P	0.47962	0.903	D	0.79108	0.992	T	0.01010	-1.1482	10	0.66056	D	0.02	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	502	P51512	MMP16_HUMAN	S	502	ENSP00000286614:Y502S	ENSP00000286614:Y502S	Y	-	2	0	0	MMP16	89123124	89123124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	TAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005941			35	36		153	149	1		1	0		0	0	51	0		1	3.632199e-02	0	0	0	2	0	35	153
OSGIN2	734	broad.mit.edu	37	8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000297438.2	+	6	965	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	OSGIN2_ENST00000451899.2_Missense_Mutation_p.L248F	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	204					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338																																						ENST00000297438.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(610-612)Ctc>Ttc		oxidative stress induced growth inhibitor family member 2							99.0	108.0	105.0					8																	90936852		2203	4299	6502	SO:0001583	missense	734	0	0					g.chr8:90936852C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.610C>T	chr8.hg19:g.90936852C>T	ENSP00000297438:p.Leu204Phe	0					OSGIN2_ENST00000451899.2_Missense_Mutation_p.L248F	p.L204F	NM_004337.2	NP_004328.1	0	0	0	1.973482	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)	6	965	+				Missense_Mutation	SNP	ENST00000297438.2	1	1	hg19	c.610C>T	CCDS6248.1	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035679	0.35893	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.191779	0.46758	D	0.000264	T	0.35451	0.0932	L	0.56769	1.78	0.80722	D	1	D;D	0.61080	0.989;0.977	P;P	0.59056	0.735;0.851	T	0.02646	-1.1129	10	0.25751	T	0.34	-7.6292	13.3058	0.60351	0.1583:0.8417:0.0:0.0	.	248;204	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	204;248	ENSP00000297438:L204F;ENSP00000396445:L248F	ENSP00000297438:L204F	L	+	1	0	0	OSGIN2	91006027	91006027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.621000	0.67743	2.343000	0.79666	0.555000	0.69702	CTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	1	0	1		2	2	2	0		0	0	113		113	113	1	2.060000	-20.000000	1	0.170000	NM_004337			85	84		459	458	1		1	1		0	0	113	0		1	9.999822e-01	0	23	0	63	0	85	459
NBN	4683	broad.mit.edu	37	8	90965920	90965920	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90965920C>A	ENST00000265433.3	-	11	1552		c.e11-1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin						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)			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)			ATCCCTTTCCCTTAGATTTAA	0.338								Homologous recombination																														ENST00000265433.3	1.000000	0.240000	9.000000e-01	4.000000e-01	0.620000	0.643017	0.620000	1.000000																										0				27						c.e11-1	Homologous recombination	nibrin							23.0	20.0	21.0					8																	90965920		2203	4292	6495	SO:0001630	splice_region_variant	4683	0	0					g.chr8:90965920C>A	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.1398-1G>T	chr8.hg19:g.90965920C>A		0					NBN_ENST00000409330.1_Splice_Site		NM_002485.4	NP_002476.2	0	0	0	1.973482	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)	11	1552	-			B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	SNP	ENST00000265433.3	0	1	hg19		CCDS6249.1	0	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611120	0.66558	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.29	5.29	0.74685	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	NBN	91035096	91035096	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	4.024000	0.57218	2.469000	0.83416	0.650000	0.86243	.	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	0	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-3.354005	1	0.170000	NM_001024688	Intron		5	5		93	91	0		1			0	0	16	0		9.358091e-01	0	0	0	0	0	0	5	93
DECR1	1666	broad.mit.edu	37	8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A	rs372630127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000220764.2	+	5	611	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.V166M	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	175					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)			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)			CACAGCCTTCGTGACACTAGA	0.363																																						ENST00000220764.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(523-525)Gtg>Atg		2,4-dienoyl CoA reductase 1, mitochondrial		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78.0	77.0	77.0		523	3.8	1.0	8		77	0,8598		0,0,4299	no	missense	DECR1	NM_001359.1	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	175/336	91033242	1,13003	2203	4299	6502	SO:0001583	missense	1666	17	121408	42				g.chr8:91033242G>A	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.523G>A	chr8.hg19:g.91033242G>A	ENSP00000220764:p.Val175Met	0					DECR1_ENST00000522161.1_Missense_Mutation_p.V166M|DECR1_ENST00000519007.1_3'UTR	p.V175M	NM_001359.1	NP_001350.1	0	0	0	1.973482	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)	5	611	+			B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	1	1	hg19	c.523G>A	CCDS6250.1	1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304840	0.40795	2.27E-4	0.0	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87650	0.96;-2.28;0.96;-2.28;-2.28	5.59	3.83	0.44106	5.59	3.83	0.44106	NAD(P)-binding domain (1);	0.055756	0.64402	N	0.000001	D	0.87549	0.6205	L	0.49455	1.56	0.80722	D	1	D;P	0.58620	0.983;0.697	P;B	0.53313	0.723;0.179	D	0.85099	0.0956	10	0.35671	T	0.21	.	12.5811	0.56391	0.135:0.0:0.865:0.0	.	166;175	B7Z6B8;Q16698	.;DECR_HUMAN	M	175;153;166;166;125	ENSP00000220764:V175M;ENSP00000430561:V153M;ENSP00000429779:V166M;ENSP00000427936:V166M;ENSP00000429096:V125M	ENSP00000220764:V175M	V	+	1	0	0	DECR1	91102418	91102418	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.127000	0.57944	0.748000	0.32831	-1.020000	0.02445	GTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000				60	59		216	212	1		1	1		0	0	67	0		1	1	0	104	0	328	0	60	216
TMEM64	169200	broad.mit.edu	37	8	91637980	91637980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	354					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388																																						ENST00000458549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(1060-1062)ggC>ggT		transmembrane protein 64							115.0	103.0	107.0					8																	91637980		2203	4300	6503	SO:0001819	synonymous_variant	169200	2	121412	32				g.chr8:91637980G>A	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1062C>T	chr8.hg19:g.91637980G>A		0					TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	p.G354G	NM_001008495.3	NP_001008495.2	0	0	0	1.973482	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)	3	1239	-			B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	1	1	hg19	c.1062C>T	CCDS34920.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-19.999950	1	0.170000	NM_001008495			43	39		199	194	1		1	1		0	0	37	0		1	9.999853e-01	0	12	0	69	0	43	199
TMEM64	169200	broad.mit.edu	37	8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	251					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(751-753)aGa>aAa		transmembrane protein 64							69.0	72.0	71.0					8																	91657382		2203	4300	6503	SO:0001583	missense	169200	0	0					g.chr8:91657382C>T	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.752G>A	chr8.hg19:g.91657382C>T	ENSP00000414786:p.Arg251Lys	0		OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|RP11-68L18.1_ENST00000501194.2_RNA	p.R251K	NM_001008495.3	NP_001008495.2	0	0	0	1.973482	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)	1	929	-			B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	1	1	hg19	c.752G>A	CCDS34920.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.497108	0.96355	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	D	0.89203	0.3559	9	0.72032	D	0.01	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	251;251	F5GXM4;Q6YI46	.;TMM64_HUMAN	K	251;251;120	.	ENSP00000411951:R251K	R	-	2	0	0	TMEM64	91726558	91726558	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.277000	0.78572	2.098000	0.63641	0.555000	0.69702	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	1	0	0		2	2	2	0		0	0	78		78	78	1	2.060000	-3.224784	1	0.170000	NM_001008495			62	60		347	341	1		1	1		0	0	78	0		1	9.994881e-01	0	21	0	44	0	62	347
TMEM64	169200	broad.mit.edu	37	8	91657411	91657411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	241					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(721-723)ggA>ggG		transmembrane protein 64							63.0	63.0	63.0					8																	91657411		2203	4300	6503	SO:0001819	synonymous_variant	169200	0	0					g.chr8:91657411T>C	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.723A>G	chr8.hg19:g.91657411T>C		0		OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G|RP11-68L18.1_ENST00000501194.2_RNA	p.G241G	NM_001008495.3	NP_001008495.2	0	0	0	1.973482	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)	1	900	-			B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	1	1	hg19	c.723A>G	CCDS34920.2	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	0	0	0		18	6	2	1		1	1	61		61	59	1	2.060000	-20.000000	1	0.170000	NM_001008495			63	61		269	262	1		1	1		1	0	61	0		1	9.886200e-01	0	9	0	58	0	63	269
TMEM55A	55529	broad.mit.edu	37	8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	84						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343																																						ENST00000285419.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(250-252)gCt>gTt		transmembrane protein 55A							97.0	88.0	91.0					8																	92033488		2203	4300	6503	SO:0001583	missense	55529	0	0					g.chr8:92033488G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.251C>T	chr8.hg19:g.92033488G>A	ENSP00000285419:p.Ala84Val	0					GS1-251I9.3_ENST00000517920.1_RNA	p.A84V	NM_018710.2	NP_061180.1	0	0	0	1.973482	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)	2	565	-			B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	1	1	hg19	c.251C>T	CCDS6252.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.467683	0.96257	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.75363	-0.3344	9	0.54805	T	0.06	-7.6323	19.8946	0.96949	0.0:0.0:1.0:0.0	.	84	Q8N4L2	TM55A_HUMAN	V	84;90	.	ENSP00000285419:A84V	A	-	2	0	0	TMEM55A	92102664	92102664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	GCT	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	1	0	0		2	2	2	0		0	0	59		59	59	1	2.060000	-3.478243	1	0.170000	NM_018710			66	64		271	266	1		1	1		0	0	59	0		1	9.999990e-01	0	14	0	72	0	66	271
SLC26A7	115111	broad.mit.edu	37	8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303																																						ENST00000276609.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(799-801)aTt>aGt		solute carrier family 26 (anion exchanger), member 7							101.0	96.0	98.0					8																	92350382		2203	4297	6500	SO:0001583	missense	115111	0	0					g.chr8:92350382T>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.800T>G	chr8.hg19:g.92350382T>G	ENSP00000276609:p.Ile267Ser	0					SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S	p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	0	0	0	1.973482			BRCA - Breast invasive adenocarcinoma(11;0.00802)	7	1039	+				Missense_Mutation	SNP	ENST00000276609.3	1	1	hg19	c.800T>G	CCDS6254.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734097|2.734097	0.48939|0.48939	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.94613|.	-3.47;-3.47;-3.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	Sulphate transporter (1);|.	0.138507|.	0.50627|.	D|.	0.000115|.	T|T	0.70945|0.70945	0.3282|0.3282	L|L	0.58669|0.58669	1.825|1.825	0.44523|0.44523	D|D	0.997476|0.997476	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.18263|.	0.012;0.021|.	T|T	0.69296|0.69296	-0.5182|-0.5182	10|5	0.87932|.	D|.	0|.	.|.	16.1388|16.1388	0.81509|0.81509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;267|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	S|V	267|135	ENSP00000428849:I267S;ENSP00000276609:I267S;ENSP00000309504:I267S|.	ENSP00000276609:I267S|.	I|L	+|+	2|1	0|2	0|2	SLC26A7|SLC26A7	92419558|92419558	92419558|92419558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.140000|5.140000	0.64807|0.64807	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	ATT|TTG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				63	63		249	244	1		1			0	0	53	0		1	0	0	0	0	0	0	63	249
FAM92A1	137392	broad.mit.edu	37	8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	84										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)			TCAGGATTATCGACAAGCAGA	0.443																																						ENST00000518322.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999921	0.990000	1.000000																										0				7						c.(250-252)Cga>Tga		family with sequence similarity 92, member A1							45.0	42.0	43.0					8																	94713675		1941	4149	6090	SO:0001587	stop_gained	137392	0	0					g.chr8:94713675C>T		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.250C>T	chr8.hg19:g.94713675C>T	ENSP00000429367:p.Arg84*	0					LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	p.R84*	NM_145269.3	NP_660312.2	0	0	0	1.973482	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)	2	391	+	Breast(36;2.4e-06)		A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Nonsense_Mutation	SNP	ENST00000518322.1	0	1	hg19	c.250C>T	CCDS47892.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.410186|6.410186	0.97546|0.97546	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007;ENST00000520955|ENST00000523453	.|.	.|.	.|.	4.38|4.38	3.43|3.43	0.39272|0.39272	4.38|4.38	3.43|3.43	0.39272|0.39272	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67948	.|-0.5538	.|4	0.02654|.	T|.	1|.	-15.1932|-15.1932	14.2849|14.2849	0.66240|0.66240	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|.	.|.	.|.	X|L	14;14;84;84;84;84;84;84;84;14|94	.|.	ENSP00000341363:R84X|.	R|S	+|+	1|2	2|0	2|0	FAM92A1|FAM92A1	94782851|94782851	94782851|94782851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.831000|5.831000	0.69330|0.69330	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CGA|TCG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	0	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-15.050070	1	0.170000	NM_145269			21	21		88	83	1		1	1		0	0	26	0		9.999982e-01	9.999871e-01	0	9	0	77	0	21	88
TMEM67	91147	broad.mit.edu	37	8	94800075	94800075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343																																						ENST00000453321.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1414-1416)gtC>gtT		transmembrane protein 67							154.0	145.0	148.0					8																	94800075		2203	4300	6503	SO:0001819	synonymous_variant	91147	0	0					g.chr8:94800075C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1416C>T	chr8.hg19:g.94800075C>T		0					TMEM67_ENST00000409623.3_Silent_p.V391V	p.V472V	NM_153704.5	NP_714915.3	0	0	0	1.973482	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)	14	1474	+	Breast(36;4.14e-07)		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	1	1	hg19	c.1416C>T	CCDS6258.2	1	.	.	.	.	.	.	.	.	.	.	C	0.834	-0.744151	0.03088	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.59	3.39	0.38822	5.59	3.39	0.38822	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-9.2279	6.1893	0.20516	0.1666:0.6377:0.0:0.1957	.	.	.	.	S	80	.	.	P	+	1	0	0	TMEM67	94869251	94869251	0.767000	0.28508	0.964000	0.40570	0.236000	0.25371	1.234000	0.32660	1.305000	0.44909	0.557000	0.71058	CCA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_153704			75	75		423	416	1		1	1		0	0	101	0		1	8.024991e-01	0	5	0	14	0	75	423
PDP1	54704	broad.mit.edu	37	8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000297598.4	+	2	984	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000396200.3_Missense_Mutation_p.A264S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	239					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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433																																						ENST00000297598.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(715-717)Gcc>Tcc		pyruvate dehyrogenase phosphatase catalytic subunit 1							120.0	121.0	121.0					8																	94935002		2203	4300	6503	SO:0001583	missense	54704	0	0					g.chr8:94935002G>T	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.715G>T	chr8.hg19:g.94935002G>T	ENSP00000297598:p.Ala239Ser	0					PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000396200.3_Missense_Mutation_p.A264S	p.A239S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	0	0	0	1.973482	Q9P0J1	PDP1_HUMAN		2	984	+			B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	1	1	hg19	c.715G>T	CCDS6259.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732938	0.30684	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.16	6.16	0.99307	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.158082	0.56097	D	0.000028	T	0.18882	0.0453	L	0.43646	1.37	0.80722	D	1	B;B	0.31459	0.324;0.212	B;B	0.34873	0.191;0.191	T	0.02004	-1.1231	10	0.30078	T	0.28	-9.2349	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	290;239	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	239;239;264;239	ENSP00000297598:A239S;ENSP00000428317:A239S;ENSP00000379503:A264S;ENSP00000430380:A239S	ENSP00000297598:A239S	A	+	1	0	0	PDP1	95004178	95004178	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.614000	0.74197	2.937000	0.99478	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	1	0	1		2	2	2	0		0	0	99		99	99	1	2.060000	-20.000000	1	0.170000	NM_018444			107	106		421	414	1		1	1		0	0	99	0		1	9.999953e-01	0	27	0	44	0	107	421
PDP1	54704	broad.mit.edu	37	8	94935883	94935883	+	Silent	SNP	G	G	A	rs535568386	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000297598.4	+	2	1865	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000396200.3_Silent_p.A557A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	532					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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353													G|||	3	0.000599042	0.0	0.0	5008	,	,		22979	0.0		0.0	False		,,,				2504	0.0031					ENST00000297598.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1594-1596)gcG>gcA		pyruvate dehyrogenase phosphatase catalytic subunit 1							76.0	76.0	76.0					8																	94935883		2203	4300	6503	SO:0001819	synonymous_variant	54704	43	121412	48				g.chr8:94935883G>A	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.1596G>A	chr8.hg19:g.94935883G>A		0					PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000396200.3_Silent_p.A557A	p.A532A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	0	0	0	1.973482	Q9P0J1	PDP1_HUMAN		2	1865	+			B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	1	1	hg19	c.1596G>A	CCDS6259.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	1	0	1		2	2	2	0		0	0	80		80	76	1	2.060000	-3.281977	1	0.170000	NM_018444			72	71		335	328	1		1	1		0	0	80	0		1	9.999986e-01	0	18	0	75	0	72	335
CDH17	1015	broad.mit.edu	37	8	95182635	95182635	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAGTCGTTCATTCTCCTGGA	0.443																																						ENST00000027335.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1054-1056)aaT>aaC		cadherin 17, LI cadherin (liver-intestine)							153.0	140.0	145.0					8																	95182635		2203	4300	6503	SO:0001819	synonymous_variant	1015	0	0					g.chr8:95182635A>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1056T>C	chr8.hg19:g.95182635A>G		0					CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	p.N352N	NM_004063.3	NP_004054.3	0	0	0	1.973482	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)	9	1180	-	Breast(36;4.65e-06)		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	1	1	hg19	c.1056T>C	CCDS6260.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-20.000000	1	0.170000	NM_004063			126	124		538	519	0		1	1		0	0	109	0		1	1	0	170	0	179	0	126	538
CDH17	1015	broad.mit.edu	37	8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGAGTAGATCTTGTTTCCCT	0.463																																						ENST00000027335.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(265-267)aGa>aTa		cadherin 17, LI cadherin (liver-intestine)							227.0	216.0	220.0					8																	95189834		2203	4300	6503	SO:0001583	missense	1015	0	0					g.chr8:95189834C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.266G>T	chr8.hg19:g.95189834C>A	ENSP00000027335:p.Arg89Ile	0					CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	p.R89I	NM_004063.3	NP_004054.3	0	0	0	1.973482	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)	4	390	-	Breast(36;4.65e-06)		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	1	1	hg19	c.266G>T	CCDS6260.1	1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102864	0.20632	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60299	0.2;4.58;0.2;0.69	6.04	2.23	0.28157	6.04	2.23	0.28157	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	L	0.39326	1.205	0.27924	N	0.93813	P;D	0.57257	0.836;0.979	B;P	0.51806	0.308;0.68	T	0.48364	-0.9042	10	0.66056	D	0.02	-11.6902	5.5827	0.17258	0.0:0.5728:0.1352:0.292	.	89;89	E7EN24;Q12864	.;CAD17_HUMAN	I	89	ENSP00000027335:R89I;ENSP00000392811:R89I;ENSP00000401468:R89I;ENSP00000428189:R89I	ENSP00000027335:R89I	R	-	2	0	0	CDH17	95259010	95259010	0.969000	0.33509	0.531000	0.27976	0.134000	0.20937	0.796000	0.26986	0.444000	0.26612	-0.251000	0.11542	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000	NM_004063			90	88		488	484	1		1	1		0	0	109	0		1	1	0	149	0	169	0	90	488
RAD54B	25788	broad.mit.edu	37	8	95390544	95390544	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	793	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			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)			TGGTGAGGTCGACAACTGCCC	0.353								Direct reversal of damage;Homologous recombination																														ENST00000336148.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999889	0.990000	1.000000																										0				39						c.(2377-2379)gtC>gtT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							95.0	84.0	87.0					8																	95390544		2203	4300	6503	SO:0001819	synonymous_variant	25788	0	0					g.chr8:95390544G>A	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.2379C>T	chr8.hg19:g.95390544G>A		0						p.V793V	NM_012415.3	NP_036547.1	0	0	0	1.973482	Q9Y620	RA54B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)	14	2503	-	Breast(36;4.5e-05)		F6WBS8	Silent	SNP	ENST00000336148.5	1	1	hg19	c.2379C>T	CCDS6262.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-15.244080	1	0.170000	NM_012415			26	26		134	133	1		1	1		0	0	32	0		1	4.539781e-01	0	5	0	4	0	26	134
DPY19L4	286148	broad.mit.edu	37	8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	685						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294													C|||	3	0.000599042	0.0	0.0	5008	,	,		18465	0.0		0.003	False		,,,				2504	0.0					ENST00000414645.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				21						c.(2053-2055)Cga>Tga		dpy-19-like 4 (C. elegans)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	102.0	99.0		2053	2.3	0.9	8	dbSNP_134	99	3,8593	3.0+/-9.4	0,3,4295	yes	stop-gained	DPY19L4	NM_181787.2		0,4,6497	TT,TC,CC		0.0349,0.0227,0.0308		685/724	95802019	4,12998	2203	4298	6501	SO:0001587	stop_gained	286148	35	121404	48				g.chr8:95802019C>T		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.2053C>T	chr8.hg19:g.95802019C>T	ENSP00000389630:p.Arg685*	0					KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	p.R685*	NM_181787.2	NP_861452.2	0	0	0	1.973482	Q7Z388	D19L4_HUMAN		19	2152	+	Breast(36;3.85e-06)		Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	0	1	hg19	c.2053C>T	CCDS34924.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	37	6.156228	0.97334	2.27E-4	3.49E-4	ENSG00000156162	ENST00000414645	.	.	.	5.19	2.33	0.28932	5.19	2.33	0.28932	.	0.060745	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1931	14.719	0.69291	0.3827:0.6173:0.0:0.0	.	.	.	.	X	685	.	ENSP00000389630:R685X	R	+	1	2	2	DPY19L4	95871195	95871195	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	1.520000	0.35899	0.238000	0.21222	0.557000	0.71058	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	1	0	1		2	2	2	0		0	0	138		138	137	1	2.060000	-20.000000	1	0.170000	NM_181787			73	70		478	473	1		1	1		0	0	138	0		1	9.809012e-01	0	7	0	36	0	73	478
INTS8	55656	broad.mit.edu	37	8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A630V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	630					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				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)					ACAGGGCAGGCAGGAGAGAGA	0.468																																						ENST00000523731.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1888-1890)gCa>gTa		integrator complex subunit 8							110.0	101.0	104.0					8																	95869141		2203	4300	6503	SO:0001583	missense	55656	0	0					g.chr8:95869141C>T	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.1889C>T	chr8.hg19:g.95869141C>T	ENSP00000430338:p.Ala630Val	0					INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	p.A630V	NM_017864.2	NP_060334.2	0	0	0	1.973482	Q75QN2	INT8_HUMAN		15	2022	+	Breast(36;1.05e-06)		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	1	1	hg19	c.1889C>T	CCDS34925.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402040|2.402040	0.42613|0.42613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.272174|.	0.36134|.	N|.	0.002773|.	T|.	0.37019|.	0.0988|.	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999848|0.999848	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.16289|.	0.015;0.015|.	T|.	0.29822|.	-0.9999|.	9|.	0.54805|.	T|.	0.06|.	-0.7634|-0.7634	19.7866|19.7866	0.96442|0.96442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	630;630|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	V|X	630|452	.|.	ENSP00000343274:A630V|.	A|Q	+|+	2|1	0|0	0|0	INTS8|INTS8	95938317|95938317	95938317|95938317	0.002000|0.002000	0.14202|0.14202	0.414000|0.414000	0.26521|0.26521	0.813000|0.813000	0.45954|0.45954	1.312000|1.312000	0.33574|0.33574	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCA|CAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	1	0	1		2	2	2	0		0	0	70		70	67	1	2.060000	-20.000000	1	0.170000	NM_017864			92	89		400	391	1		1	0		0	0	70	0		1	9.998965e-01	0	1	0	59	0	92	400
INTS8	55656	broad.mit.edu	37	8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A	rs375337415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	656					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				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)					ATTCCTCTTCGTCAAGTTATA	0.343																																						ENST00000523731.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				28						c.(1966-1968)cGt>cAt		integrator complex subunit 8		G	HIS/ARG	0,4406		0,0,2203	160.0	145.0	150.0		1967	5.8	1.0	8		150	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS8	NM_017864.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	656/996	95871751	1,13003	2203	4299	6502	SO:0001583	missense	55656	4	121404	34				g.chr8:95871751G>A	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.1967G>A	chr8.hg19:g.95871751G>A	ENSP00000430338:p.Arg656His	0					INTS8_ENST00000447247.1_Missense_Mutation_p.R656H|INTS8_ENST00000520845.1_3'UTR	p.R656H	NM_017864.2	NP_060334.2	0	0	0	1.973482	Q75QN2	INT8_HUMAN		16	2100	+	Breast(36;1.05e-06)		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	1	1	hg19	c.1967G>A	CCDS34925.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179313|5.179313	0.94846|0.94846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.73052|0.73052	-0.4104|-0.4104	9|5	0.87932|.	D|.	0|.	-0.2176|-0.2176	20.0175|20.0175	0.97485|0.97485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;656|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|I	656|478	.|.	ENSP00000343274:R656H|.	R|V	+|+	2|1	0|0	0|0	INTS8|INTS8	95940927|95940927	95940927|95940927	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	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	CGT|GTC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_017864			41	40		211	208	1		1	1		0	0	43	0		1	9.985465e-01	0	6	0	48	0	41	211
CCNE2	9134	broad.mit.edu	37	8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H			O96020	CCNE2_HUMAN	cyclin E2	181					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)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294																																						ENST00000520509.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(541-543)Aat>Cat		cyclin E2							61.0	66.0	65.0					8																	95900214		2196	4271	6467	SO:0001583	missense	9134	0	0					g.chr8:95900214T>G	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.541A>C	chr8.hg19:g.95900214T>G	ENSP00000429089:p.Asn181His	0					CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H	p.N181H			0	0	0	1.973482	O96020	CCNE2_HUMAN		7	793	-	Breast(36;8.75e-07)		O95439	Missense_Mutation	SNP	ENST00000520509.1	1	1	hg19	c.541A>C	CCDS6264.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.828|8.828	0.939186|0.939186	0.18281|0.18281	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.246397|.	0.50627|.	D|.	0.000115|.	T|.	0.55955|.	0.1953|.	L|L	0.28649|0.28649	0.875|0.875	0.46874|0.46874	D|D	0.999233|0.999233	B;D|.	0.67145|.	0.029;0.996|.	B;P|.	0.62014|.	0.065;0.897|.	T|.	0.52578|.	-0.8557|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.8419|15.8419	0.78852|0.78852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;181|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	H|Y	181;181;73;181|44	ENSP00000429089:N181H;ENSP00000309181:N181H;ENSP00000379437:N181H|.	ENSP00000309181:N181H|.	N|X	-|-	1|3	0|2	0|2	CCNE2|CCNE2	95969390|95969390	95969390|95969390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.056000|2.056000	0.41355|0.41355	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	AAT|TAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-20.000000	1	0.170000	NM_057749, NM_004702			51	51		186	182	1		1	1		0	0	59	0		1	5.440704e-01	0	2	0	6	0	51	186
UQCRB	7381	broad.mit.edu	37	8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000287022.5	-	3	221	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	40					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCTTCATCCTCGTATATTGTA	0.363																																						ENST00000287022.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				10						c.(118-120)Gag>Aag		ubiquinol-cytochrome c reductase binding protein							97.0	91.0	93.0					8																	97244142		2203	4300	6503	SO:0001583	missense	7381	5	121412	38				g.chr8:97244142C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.118G>A	chr8.hg19:g.97244142C>T	ENSP00000287022:p.Glu40Lys	0					UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	0	0	0	1.973482	P14927	QCR7_HUMAN		3	221	-	Breast(36;5.16e-05)		E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	1	1	hg19	c.118G>A	CCDS6269.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500402	0.64298	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.098626	0.64402	D	0.000002	T	0.61451	0.2348	H	0.95574	3.69	0.80722	D	1	P	0.37688	0.605	B	0.32211	0.142	T	0.73968	-0.3815	10	0.66056	D	0.02	-11.4134	17.3502	0.87321	0.0:1.0:0.0:0.0	.	40	P14927	QCR7_HUMAN	K	40;8;40;40	ENSP00000287022:E40K;ENSP00000429787:E8K;ENSP00000430494:E40K;ENSP00000430560:E40K	ENSP00000287022:E40K	E	-	1	0	0	UQCRB	97313318	97313318	1.000000	0.71417	0.071000	0.20095	0.185000	0.23345	7.522000	0.81844	2.534000	0.85438	0.591000	0.81541	GAG	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-2.782659	1	0.170000	NM_006294			45	44		252	248	1		1	1		0	0	66	0		1	1	0	432	0	1690	0	45	252
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					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)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353																																						ENST00000517309.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(283-285)Cga>Tga		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						156.0	158.0	157.0					8																	97296348		2203	4300	6503	SO:0001587	stop_gained	9791	0	0					g.chr8:97296348C>T	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.283C>T	chr8.hg19:g.97296348C>T	ENSP00000430548:p.Arg95*	0					PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron	p.R95*	NM_014754.1	NP_055569.1	0	0	0	1.973482	P48651	PTSS1_HUMAN		3	609	+	Breast(36;6.18e-05)		E5RFC5|Q9BUQ5	Nonsense_Mutation	SNP	ENST00000517309.1	0	1	hg19	c.283C>T	CCDS6271.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.117612	0.98662	.	.	ENSG00000156471	ENST00000517309	.	.	.	5.16	3.24	0.37175	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	.	.	.	X	95	.	ENSP00000430548:R95X	R	+	1	2	2	PTDSS1	97365524	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-3.065914	1	0.170000				89	89		394	388	1		1	1		0	0	74	0		1	1	0	6	0	192	0	89	394
TSPYL5	85453	broad.mit.edu	37	8	98289747	98289747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	ENST00000322128.3	-	1	429	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	109					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAGAGATGCGGCCTTCCCCGG	0.741																																						ENST00000322128.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				20						c.(325-327)gCc>gTc		TSPY-like 5							5.0	6.0	5.0					8																	98289747		1875	3684	5559	SO:0001583	missense	85453	0	0					g.chr8:98289747G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.326C>T	chr8.hg19:g.98289747G>A	ENSP00000322802:p.Ala109Val	0						p.A109V	NM_033512.2	NP_277047.2	0	0	0	1.973482	Q86VY4	TSYL5_HUMAN		1	429	-	Breast(36;2.56e-06)		B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	0	1	hg19	c.326C>T	CCDS34927.1	1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732158	0.15507	.	.	ENSG00000180543	ENST00000322128	T	0.19105	2.17	4.05	2.25	0.28309	4.05	2.25	0.28309	.	0.840683	0.09688	N	0.768828	T	0.18173	0.0436	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23940	-1.0174	10	0.56958	D	0.05	-2.2082	6.8549	0.24034	0.2072:0.0:0.7928:0.0	.	109	Q86VY4	TSYL5_HUMAN	V	109	ENSP00000322802:A109V	ENSP00000322802:A109V	A	-	2	0	0	TSPYL5	98358923	98358923	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.707000	0.25704	0.649000	0.30751	0.650000	0.86243	GCC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.741	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	0	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_033512			21	20		81	81	0		1	0		0	0	11	0		9.999989e-01	3.722739e-01	0	0	0	6	0	21	81
LAPTM4B	55353	broad.mit.edu	37	8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000521545.2	+	3	508	c.274G>A	c.(274-276)Gga>Aga	p.G92R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.G183R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	236					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418																																						ENST00000521545.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				10						c.(274-276)Gga>Aga		lysosomal protein transmembrane 4 beta							126.0	116.0	120.0					8																	98827618		2203	4300	6503	SO:0001583	missense	55353	0	0					g.chr8:98827618G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.274G>A	chr8.hg19:g.98827618G>A	ENSP00000428409:p.Gly92Arg	0					LAPTM4B_ENST00000445593.2_Missense_Mutation_p.G183R	p.G92R			0	0	0	1.973482	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)	3	508	+	Breast(36;1.59e-06)		Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	1	1	hg19	c.274G>A		1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872607	0.91587	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.47177	0.85;0.85	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.055694	0.64402	D	0.000001	T	0.72906	0.3519	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.72032	D	0.01	-12.4055	16.9823	0.86332	0.0:0.0:1.0:0.0	.	236	Q86VI4	LAP4B_HUMAN	R	183;229;92	ENSP00000402301:G183R;ENSP00000428409:G92R	ENSP00000367995:G229R	G	+	1	0	0	LAPTM4B	98896794	98896794	1.000000	0.71417	0.939000	0.37840	0.756000	0.42949	8.852000	0.92215	2.738000	0.93877	0.557000	0.71058	GGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-2.600045	1	0.170000				41	41		256	245	1		1	1		0	0	40	0		1	1	0	128	0	376	0	41	256
MATN2	4147	broad.mit.edu	37	8	99030295	99030295	+	Silent	SNP	C	C	T	rs374356192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000520016.1	+	11	1894	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000254898.5_Silent_p.C590C|MATN2_ENST00000522025.2_Silent_p.C306C			O00339	MATN2_HUMAN	matrilin 2	590	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			CATACACGTGCGAGTGCTTGG	0.507																																						ENST00000520016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1768-1770)tgC>tgT		matrilin 2		C	,	0,4174		0,0,2087	212.0	219.0	217.0		1770,1770	5.2	1.0	8		217	1,8435		0,1,4217	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	,	590/957,590/938	99030295	1,12609	2087	4218	6305	SO:0001819	synonymous_variant	4147	1	121052	35				g.chr8:99030295C>T	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.1770C>T	chr8.hg19:g.99030295C>T		0					MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000254898.5_Silent_p.C590C	p.C590C			0	0	0	1.973482	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)	11	1894	+	Breast(36;1.43e-06)		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	1	1	hg19	c.1770C>T	CCDS55264.1	1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554985	0.03967	0.0	1.19E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2589	12.2666	0.54681	0.0:0.9233:0.0:0.0767	.	.	.	.	X	373;65	.	.	R	+	1	2	2	MATN2	99099471	99099471	0.093000	0.21703	1.000000	0.80357	0.014000	0.08584	0.633000	0.24598	2.691000	0.91804	0.655000	0.94253	CGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	1		2	2	2	0		0	0	219		219	217	1	2.060000	-20.000000	1	0.170000				175	173		777	754	1		1	1		0	0	219	0		1	1	0	37	0	74	0	175	777
MATN2	4147	broad.mit.edu	37	8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G	rs564459016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000520016.1	+	13	2262	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S			O00339	MATN2_HUMAN	matrilin 2	713	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			AGAAACTTCAACTCAGCCAAA	0.478													A|||	1	0.000199681	0.0	0.0	5008	,	,		18754	0.0		0.0	False		,,,				2504	0.001					ENST00000520016.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2137-2139)aAc>aGc		matrilin 2							63.0	63.0	63.0					8																	99039839		1862	4108	5970	SO:0001583	missense	4147	1	120824	33				g.chr8:99039839A>G	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.2138A>G	chr8.hg19:g.99039839A>G	ENSP00000430487:p.Asn713Ser	0					MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S	p.N713S			0	0	0	1.973482	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)	13	2262	+	Breast(36;1.43e-06)		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	1	1	hg19	c.2138A>G	CCDS55264.1	1	.	.	.	.	.	.	.	.	.	.	A	4.471	0.087380	0.08583	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.24	1.14	0.20703	5.24	1.14	0.20703	von Willebrand factor, type A (3);	0.432631	0.23966	N	0.042813	T	0.56262	0.1973	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50110	-0.8866	10	0.02654	T	1	-9.1721	6.1465	0.20289	0.279:0.12:0.6009:0.0	.	713;713;713	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	S	713;713;672;672;429;713	ENSP00000429977:N713S;ENSP00000254898:N713S;ENSP00000430221:N672S;ENSP00000429010:N429S;ENSP00000430487:N713S	ENSP00000254898:N713S	N	+	2	0	0	MATN2	99109015	99109015	0.934000	0.31675	0.995000	0.50966	0.992000	0.81027	0.216000	0.17585	0.233000	0.21120	0.454000	0.30748	AAC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000				45	44		177	175	1		1	1		0	0	52	0		1	9.999998e-01	0	28	0	68	0	45	177
POP1	10940	broad.mit.edu	37	8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	195					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443																																						ENST00000401707.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(583-585)aGa>aAa		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							68.0	65.0	66.0					8																	99142303		2203	4300	6503	SO:0001583	missense	10940	0	0					g.chr8:99142303G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.584G>A	chr8.hg19:g.99142303G>A	ENSP00000385787:p.Arg195Lys	0					POP1_ENST00000349693.3_Missense_Mutation_p.R195K	p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	0	0	0	1.973482	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)	5	665	+	Breast(36;1.78e-06)		A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	1	1	hg19	c.584G>A	CCDS6277.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.679774	0.96774	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.59502	0.26;0.26	5.81	5.81	0.92471	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.133902	0.46145	D	0.000318	T	0.73931	0.3650	M	0.66297	2.02	0.54753	D	0.999988	D	0.54207	0.965	D	0.66497	0.944	T	0.71768	-0.4493	9	.	.	.	0.8959	17.8794	0.88835	0.0:0.0:1.0:0.0	.	195	Q99575	POP1_HUMAN	K	195	ENSP00000385787:R195K;ENSP00000339529:R195K	.	R	+	2	0	0	POP1	99211479	99211479	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	AGA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_015029			59	55		268	264	1		1	1		0	0	52	0		1	8.109619e-01	0	4	0	12	0	59	268
NIPAL2	79815	broad.mit.edu	37	8	99207043	99207043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000430223.2_Silent_p.L318L|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	318						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308																																						ENST00000341166.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999409	0.990000	1.000000																										0				12						c.(952-954)Ctg>Ttg		NIPA-like domain containing 2							39.0	39.0	39.0					8																	99207043		2201	4293	6494	SO:0001819	synonymous_variant	79815	0	0					g.chr8:99207043G>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.952C>T	chr8.hg19:g.99207043G>A		0					RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	p.L318L	NM_024759.1	NP_079035.1	0	0	0	1.973482	Q9H841	NPAL2_HUMAN		10	1207	-			A2RTY8	Silent	SNP	ENST00000341166.3	1	1	hg19	c.952C>T	CCDS6278.1	1																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000	NM_024759			19	19		98	98	1		1	1		0	0	36	0		9.999949e-01	9.623177e-01	0	6	0	25	0	19	98
KCNS2	3788	broad.mit.edu	37	8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	190					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)			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)			AGGGTCTTCAGCATCCTGTCC	0.617																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(568-570)aGc>aAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							62.0	60.0	61.0					8																	99440776		2203	4300	6503	SO:0001583	missense	3788	0	0					g.chr8:99440776G>A	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.569G>A	chr8.hg19:g.99440776G>A	ENSP00000287042:p.Ser190Asn	0					KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	p.S190N	NM_020697.2	NP_065748.1	0	0	0	1.973482	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)	2	919	+	Breast(36;2.4e-06)		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	1	1	hg19	c.569G>A	CCDS6279.1	1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300239	0.60195	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97303	-4.33;-4.33	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.041854	0.85682	D	0.000000	D	0.95500	0.8538	M	0.64170	1.965	0.39189	D	0.962921	B	0.33694	0.421	B	0.29524	0.103	D	0.95547	0.8617	10	0.87932	D	0	.	15.5109	0.75782	0.0:0.1377:0.8623:0.0	.	190	Q9ULS6	KCNS2_HUMAN	N	190	ENSP00000287042:S190N;ENSP00000430712:S190N	ENSP00000287042:S190N	S	+	2	0	0	KCNS2	99509952	99509952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.735000	0.93741	0.563000	0.77884	AGC	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_020697			64	63		291	287	1		1	0		0	0	82	0		1	3.356650e-02	0	0	0	2	0	64	291
OSR2	116039	broad.mit.edu	37	8	99961621	99961621	+	Silent	SNP	C	C	A	rs368868923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	147					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542																																						ENST00000297565.4	0.560000	0.270000	4.800000e-01	3.300000e-01	0.400000	0.415498	0.400000	0.410000																										0				25						c.(439-441)atC>atA		odd-skipped related transciption factor 2		C	,	1,3861		0,1,1930	102.0	111.0	108.0		441,441	1.5	1.0	8		108	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	OSR2	NM_001142462.1,NM_053001.2	,	0,1,6070	AA,AC,CC		0.0,0.0259,0.0082	,	147/313,147/277	99961621	1,12141	1931	4140	6071	SO:0001819	synonymous_variant	116039	3	120880	39				g.chr8:99961621C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.441C>A	chr8.hg19:g.99961621C>A		0					OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000435298.2_Silent_p.I147I	p.I147I	NM_001142462.1	NP_001135934.1	0	0	0	1.973482	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)	2	937	+	Breast(36;4.14e-07)		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	1	1	hg19	c.441C>A	CCDS47901.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	0	0	1		2	2	2	0		0	0	183		183	182	1	2.060000	-3.648750	1	0.170000	NM_053001			31	30		857	842	0		1	0		0	0	183	0		1	2.929043e-01	0	1	0	29	0	31	857
C8orf33	65265	broad.mit.edu	37	8	146278525	146278525	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146278525G>A	ENST00000331434.6	+	3	510	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	132										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AACCCACCCCGAAACAGAGTA	0.577																																						ENST00000331434.6	0.380000	0.080000	2.900000e-01	1.300000e-01	0.200000	0.218136	0.200000	0.190000																										0				7						c.(394-396)ccG>ccA		chromosome 8 open reading frame 33							79.0	82.0	81.0					8																	146278525		2203	4300	6503	SO:0001819	synonymous_variant	65265	0	0					g.chr8:146278525G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.396G>A	chr8.hg19:g.146278525G>A		0						p.P132P	NM_023080.2	NP_075568.1	0	0	0	1.973482	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	3	510	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		A6NGC0|Q96BT8	Silent	SNP	ENST00000331434.6	0	1	hg19	c.396G>A	CCDS34974.1	0																																																																																								1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-6.235288	1	0.170000	NM_023080			7	7		412	405	0		1	1		0	0	65	0		9.796056e-01	8.311180e-01	0	4	0	189	0	7	412
TSTD2	158427	broad.mit.edu	37	9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512																																						ENST00000341170.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1261-1263)taC>taA		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							56.0	56.0	56.0					9																	100365039		2203	4300	6503	SO:0001587	stop_gained	158427	0	0					g.chr9:100365039G>T	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.1263C>A	chr9.hg19:g.100365039G>T	ENSP00000342499:p.Tyr421*	0						p.Y421*	NM_139246.4	NP_640339.4	0	0	0	1.938587	Q5T7W7	TSTD2_HUMAN		10	1645	-			A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	ENST00000341170.4	0	1	hg19	c.1263C>A	CCDS6727.2	1	.	.	.	.	.	.	.	.	.	.	G	44	11.259084	0.99538	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	.	.	.	5.75	3.86	0.44501	5.75	3.86	0.44501	.	0.060741	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2467	13.5115	0.61515	0.1371:0.0:0.8629:0.0	.	.	.	.	X	17;195;421	.	ENSP00000342499:Y421X	Y	-	3	2	2	TSTD2	99404860	99404860	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.157000	0.50716	1.550000	0.49438	0.655000	0.94253	TAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_139246			67	64		250	241	0		1	1		0	0	57	0		1	9.976897e-01	0	6	0	31	0	67	250
FOXE1	2304	broad.mit.edu	37	9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	360					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642																																						ENST00000375123.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				5						c.(1078-1080)gCc>gTc		forkhead box E1 (thyroid transcription factor 2)							19.0	21.0	21.0					9																	100617275		2183	4268	6451	SO:0001583	missense	2304	0	0					g.chr9:100617275C>T	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.1079C>T	chr9.hg19:g.100617275C>T	ENSP00000364265:p.Ala360Val	0						p.A360V	NM_004473.3	NP_004464.2	0	0	0	1.938587	O00358	FOXE1_HUMAN		1	1740	+		Acute lymphoblastic leukemia(62;0.158)	O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	1	1	hg19	c.1079C>T	CCDS35078.1	1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005295	0.35415	.	.	ENSG00000178919	ENST00000375123	D	0.93953	-3.32	4.78	3.86	0.44501	4.78	3.86	0.44501	.	38.421700	0.01330	U	0.011232	D	0.88235	0.6382	N	0.08118	0	0.20489	N	0.999892	B	0.20052	0.041	B	0.19391	0.025	T	0.76168	-0.3058	10	0.52906	T	0.07	.	12.2963	0.54849	0.171:0.829:0.0:0.0	.	360	O00358	FOXE1_HUMAN	V	360	ENSP00000364265:A360V	ENSP00000364265:A360V	A	+	2	0	0	FOXE1	99657096	99657096	0.933000	0.31639	0.030000	0.17652	0.061000	0.15899	2.731000	0.47343	1.334000	0.45468	0.555000	0.69702	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.060000	-20.000000	1	0.170000				32	32		161	159	1		1			0	0	36	0		1	0	0	0	0	0	0	32	161
HEMGN	55363	broad.mit.edu	37	9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	221					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418																																						ENST00000259456.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(661-663)Gat>Tat		hemogen							263.0	254.0	257.0					9																	100693016		2203	4300	6503	SO:0001583	missense	55363	0	0					g.chr9:100693016C>A	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.661G>T	chr9.hg19:g.100693016C>A	ENSP00000259456:p.Asp221Tyr	0						p.D221Y	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	0	0	0	1.938587	Q9BXL5	HEMGN_HUMAN		4	804	-		Acute lymphoblastic leukemia(62;0.0559)	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	1	1	hg19	c.661G>T	CCDS6731.1	1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736471	0.49045	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.82	1.93	0.25924	4.82	1.93	0.25924	.	0.819333	0.10544	N	0.662314	T	0.41811	0.1175	L	0.58101	1.795	0.09310	N	1	P	0.41131	0.739	P	0.44394	0.448	T	0.32561	-0.9902	9	0.62326	D	0.03	-1.5525	4.9966	0.14243	0.0:0.6384:0.1729:0.1887	.	221	Q9BXL5	HEMGN_HUMAN	Y	221	.	ENSP00000259456:D221Y	D	-	1	0	0	HEMGN	99732837	99732837	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.222000	0.17699	0.337000	0.23665	0.655000	0.94253	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	1	0	1		17	2	2	1		1	1	272		272	272	1	2.060000	-20.000000	1	0.170000	NM_197978			232	227		1040	1030	1		1			1	0	272	0		1	0	0	0	0	0	0	232	1040
TRIM14	9830	broad.mit.edu	37	9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726																																					Colon(14;460 597 13826 51781)	ENST00000341469.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				9						c.(910-912)Cgg>Tgg		tripartite motif containing 14							5.0	6.0	5.0					9																	100850171		1831	3641	5472	SO:0001583	missense	9830	0	0					g.chr9:100850171G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.910C>T	chr9.hg19:g.100850171G>A	ENSP00000344208:p.Arg304Trp	0					TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000478530.1_5'UTR	p.R304W	NM_014788.2	NP_055603.2	0	0	0	1.938587	Q14142	TRI14_HUMAN		6	919	-		Acute lymphoblastic leukemia(62;0.0559)	A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	1	1	hg19	c.910C>T	CCDS6734.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086854	0.55861	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.56	3.57	0.40892	4.56	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085614	0.45361	D	0.000379	T	0.79958	0.4536	H	0.95294	3.65	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.987;0.994;0.987	D	0.83396	0.0020	10	0.87932	D	0	.	8.7341	0.34516	0.0:0.0:0.6043:0.3957	.	85;82;304;304	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	W	304;304;304;304;85	ENSP00000364239:R304W;ENSP00000344208:R304W;ENSP00000343990:R304W;ENSP00000445355:R85W	ENSP00000344208:R304W	R	-	1	2	2	TRIM14	99889992	99889992	1.000000	0.71417	0.211000	0.23655	0.392000	0.30506	2.273000	0.43381	2.079000	0.62486	0.305000	0.20034	CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_014788			22	22		61	58	0		1	1		0	0	8	0		9.999995e-01	2.987182e-01	0	3	0	1	0	22	61
TBC1D2	55357	broad.mit.edu	37	9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874					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)			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)		CTGTTTCATGCGGAAGGGGTT	0.632																																						ENST00000375066.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2587-2589)cGc>cAc		TBC1 domain family, member 2							136.0	139.0	138.0					9																	100961829		2203	4300	6503	SO:0001583	missense	55357	7	121406	44				g.chr9:100961829C>T	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.2588G>A	chr9.hg19:g.100961829C>T	ENSP00000364207:p.Arg863His	0					TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR	p.R863H	NM_018421.3	NP_060891.3	0	0	0	1.938587	Q9BYX2	TBD2A_HUMAN		13	2679	-		Myeloproliferative disorder(762;0.0255)	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	1	1	hg19	c.2588G>A	CCDS35080.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996325	0.54147	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08720	3.06;3.48;3.08	5.51	2.54	0.30619	5.51	2.54	0.30619	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07818	0.0196	N	0.14661	0.345	0.26248	N	0.978766	D;D	0.57899	0.968;0.981	B;P	0.45449	0.288;0.481	T	0.12528	-1.0544	10	0.66056	D	0.02	.	17.0294	0.86457	0.0:0.5717:0.4283:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	863;656;414	ENSP00000364207:R863H;ENSP00000341567:R656H;ENSP00000364203:R414H	ENSP00000341567:R656H	R	-	2	0	0	TBC1D2	100001650	100001650	1.000000	0.71417	0.075000	0.20258	0.576000	0.36127	3.606000	0.54095	0.218000	0.20820	-0.416000	0.06073	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	1	0	1		2	2	2	0		0	0	197		197	185	1	2.060000	-20.000000	1	0.170000	NM_018421			217	212		1061	1030	1		1	1		0	0	197	0		1	1	0	58	0	94	0	217	1061
TBC1D2	55357	broad.mit.edu	37	9	100965573	100965573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375064.1	-	10	2306	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000375066.5_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S|TBC1D2_ENST00000342112.5_Silent_p.S538S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	756	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)			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)		CACTTACCTGGGATGCCGTCA	0.582																																						ENST00000375064.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2266-2268)tcC>tcT		TBC1 domain family, member 2							125.0	112.0	117.0					9																	100965573		2203	4300	6503	SO:0001819	synonymous_variant	55357	0	0					g.chr9:100965573G>A	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.2268C>T	chr9.hg19:g.100965573G>A		0					TBC1D2_ENST00000375063.1_Silent_p.S296S|TBC1D2_ENST00000375066.5_Silent_p.S756S|TBC1D2_ENST00000342112.5_Silent_p.S538S	p.S756S	NM_001267571.1	NP_001254500.1	0	0	0	1.938587	Q9BYX2	TBD2A_HUMAN		10	2306	-		Myeloproliferative disorder(762;0.0255)	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	1	1	hg19	c.2268C>T		1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-2.808106	1	0.170000	NM_018421			90	89		492	483	1		1	1		0	0	137	0		1	1	0	36	0	138	0	90	492
TBC1D2	55357	broad.mit.edu	37	9	101017623	101017623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375064.1	-	1	239	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000375066.5_Silent_p.R67R|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	67	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)		AGAAGAACCAGCGGGATTTCC	0.582																																						ENST00000375064.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(199-201)cgC>cgT		TBC1 domain family, member 2							73.0	78.0	76.0					9																	101017623		2203	4300	6503	SO:0001819	synonymous_variant	55357	0	0					g.chr9:101017623G>A	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.201C>T	chr9.hg19:g.101017623G>A		0					TBC1D2_ENST00000375066.5_Silent_p.R67R|TBC1D2_ENST00000342112.5_5'UTR	p.R67R	NM_001267571.1	NP_001254500.1	0	0	0	1.938587	Q9BYX2	TBD2A_HUMAN		1	239	-		Myeloproliferative disorder(762;0.0255)	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	1	1	hg19	c.201C>T		1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_018421			63	63		336	333	1		1	1		0	0	81	0		1	9.999993e-01	0	26	0	86	0	63	336
GABBR2	9568	broad.mit.edu	37	9	101125090	101125090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					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)		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)	TGCCCCCCACGATCACAAGCA	0.592																																						ENST00000259455.2	0.880000	0.250000	7.000000e-01	3.700000e-01	0.520000	0.542985	0.520000	0.500000																									NOTCH1_ENST00000277541/GABBR2(2)	0				49						c.(1798-1800)atC>atT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						90.0	71.0	77.0					9																	101125090		2203	4300	6503	SO:0001819	synonymous_variant	9568	0	0					g.chr9:101125090G>A	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.1800C>T	chr9.hg19:g.101125090G>A		0						p.I600I	NM_005458.7	NP_005449.5	0	0	0	1.938587	O75899	GABR2_HUMAN		13	2259	-		Acute lymphoblastic leukemia(62;0.0527)	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	1	1	hg19	c.1800C>T	CCDS6736.1	0																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-3.318793	1	0.170000				9	9		193	190	0		1			0	0	55	0		9.941447e-01	0	0	0	0	0	0	9	193
GABBR2	9568	broad.mit.edu	37	9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					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)		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)	TTTTTCTTATCGGCTAGAACA	0.468																																						ENST00000259455.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									NOTCH1_ENST00000277541/GABBR2(2)	0				49						c.(493-495)Gat>Aat		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						69.0	63.0	65.0					9																	101304292		2203	4300	6503	SO:0001583	missense	9568	0	0					g.chr9:101304292C>T	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.493G>A	chr9.hg19:g.101304292C>T	ENSP00000259455:p.Asp165Asn	0					GABBR2_ENST00000477471.1_5'UTR	p.D165N	NM_005458.7	NP_005449.5	0	0	0	1.938587	O75899	GABR2_HUMAN		3	952	-		Acute lymphoblastic leukemia(62;0.0527)	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	1	1	hg19	c.493G>A	CCDS6736.1	1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	0	GABBR2	100344113	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	1		2	2	2	0		0	0	41		41	40	1	2.060000	-20.000000	1	0.170000				57	56		188	185	1		1			0	0	41	0		1	0	0	0	0	0	0	57	188
GABBR2	9568	broad.mit.edu	37	9	101340265	101340265	+	Silent	SNP	G	G	A	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	137					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)		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)	TGGATGTGACGGATGGACAGA	0.512																																						ENST00000259455.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									NOTCH1_ENST00000277541/GABBR2(2)	0				49						c.(409-411)tcC>tcT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)			0,4406		0,0,2203	210.0	195.0	200.0		411	-9.2	0.6	9	dbSNP_129	200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/942	101340265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568	0	0					g.chr9:101340265G>A	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.411C>T	chr9.hg19:g.101340265G>A		0						p.S137S	NM_005458.7	NP_005449.5	0	0	0	1.938587	O75899	GABR2_HUMAN		2	870	-		Acute lymphoblastic leukemia(62;0.0527)	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	1	1	hg19	c.411C>T	CCDS6736.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-2.748848	1	0.170000				53	52		246	243	1		1			0	0	80	0		1	0	0	0	0	0	0	53	246
ANKS6	203286	broad.mit.edu	37	9	101518814	101518814	+	Silent	SNP	C	C	T	rs199761692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000353234.4	-	12	2261	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	738	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16545	0.0		0.001	False		,,,				2504	0.0					ENST00000353234.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(2212-2214)acG>acA		ankyrin repeat and sterile alpha motif domain containing 6		C		0,4052		0,0,2026	100.0	108.0	105.0		2214	-10.7	0.5	9		105	4,8344		0,4,4170	no	coding-synonymous	ANKS6	NM_173551.3		0,4,6196	TT,TC,CC		0.0479,0.0,0.0323		738/872	101518814	4,12396	2026	4174	6200	SO:0001819	synonymous_variant	203286	8	120918	44				g.chr9:101518814C>T	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.2214G>A	chr9.hg19:g.101518814C>T		0					ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T|ANKS6_ENST00000375019.2_Silent_p.T437T	p.T738T			0	0	0	1.938587	Q68DC2	ANKS6_HUMAN		12	2261	-		Acute lymphoblastic leukemia(62;0.0527)	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	1	1	hg19	c.2214G>A	CCDS43856.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	8.376	0.836505	0.16891	0.0	4.79E-4	ENSG00000165138	ENST00000444472	.	.	.	5.36	-10.7	0.00240	5.36	-10.7	0.00240	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	-16.4068	5.6656	0.17693	0.1426:0.5694:0.1748:0.1131	.	.	.	.	T	208	.	.	A	-	1	0	0	ANKS6	100558635	100558635	0.000000	0.05858	0.506000	0.27664	0.876000	0.50452	-3.351000	0.00501	-2.143000	0.00803	-0.350000	0.07774	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.096392	1	0.170000	NM_173551			72	72		273	265	1		1	1		0	0	61	0		1	9.862488e-01	0	13	0	15	0	72	273
ANKS6	203286	broad.mit.edu	37	9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000353234.4	-	9	1773	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	576						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642																																						ENST00000353234.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1726-1728)Cgg>Tgg		ankyrin repeat and sterile alpha motif domain containing 6							42.0	48.0	46.0					9																	101536254		1935	4139	6074	SO:0001583	missense	203286	3	120848	36				g.chr9:101536254G>A	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.1726C>T	chr9.hg19:g.101536254G>A	ENSP00000297837:p.Arg576Trp	0					ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W	p.R576W			0	0	0	1.938587	Q68DC2	ANKS6_HUMAN		9	1773	-		Acute lymphoblastic leukemia(62;0.0527)	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	1	1	hg19	c.1726C>T	CCDS43856.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584812|3.584812	0.65992|0.65992	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.74315	.|1.34;-0.82;-0.83;1.59	5.48|5.48	2.3|2.3	0.28687|0.28687	5.48|5.48	2.3|2.3	0.28687|0.28687	.|.	.|0.176999	.|0.48767	.|D	.|0.000176	T|T	0.79341|0.79341	0.4429|0.4429	M|M	0.63843|0.63843	1.955|1.955	0.32320|0.32320	N|N	0.562519|0.562519	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56916	.|0.809;0.65	D|D	0.83447|0.83447	0.0046|0.0046	5|10	.|0.87932	.|D	.|0	-8.574|-8.574	12.0034|12.0034	0.53243|0.53243	0.0:0.0:0.3685:0.6315|0.0:0.0:0.3685:0.6315	.|.	.|576;576	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|W	44|275;576;576;381	.|ENSP00000364159:R275W;ENSP00000364158:R576W;ENSP00000297837:R576W;ENSP00000442189:R381W	.|ENSP00000297837:R576W	P|R	-|-	2|1	0|2	0|2	ANKS6|ANKS6	100576075|100576075	100576075|100576075	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.591000|0.591000	0.36615|0.36615	3.055000|3.055000	0.49916|0.49916	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	CCG|CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-2.630702	1	0.170000	NM_173551			65	65		308	302	1		1	1		0	0	47	0		1	9.878719e-01	0	16	0	19	0	65	308
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557																																						ENST00000353234.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999503	0.990000	1.000000																										0				21						c.(1621-1623)Cga>Tga		ankyrin repeat and sterile alpha motif domain containing 6							30.0	35.0	33.0					9																	101536359		1896	4122	6018	SO:0001587	stop_gained	203286	0	0					g.chr9:101536359G>A	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.1621C>T	chr9.hg19:g.101536359G>A	ENSP00000297837:p.Arg541*	0					ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*	p.R541*			0	0	0	1.938587	Q68DC2	ANKS6_HUMAN		9	1668	-		Acute lymphoblastic leukemia(62;0.0527)	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Nonsense_Mutation	SNP	ENST00000353234.4	0	1	hg19	c.1621C>T	CCDS43856.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	2|0	ANKS6|ANKS6	100576180|100576180	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000	NM_173551			30	30		181	171	1		1	0		0	0	36	0		1	9.528873e-01	0	1	0	32	0	30	181
ANKS6	203286	broad.mit.edu	37	9	101552487	101552487	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101552487A>G	ENST00000353234.4	-	2	808	c.761T>C	c.(760-762)cTc>cCc	p.L254P	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	254						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCACGCTGAGGTGGTCAGG	0.657																																						ENST00000353234.4	0.560000	0.180000	4.600000e-01	2.600000e-01	0.340000	0.364036	0.340000	0.340000																										0				21						c.(760-762)cTc>cCc		ankyrin repeat and sterile alpha motif domain containing 6							70.0	75.0	73.0					9																	101552487		2137	4255	6392	SO:0001583	missense	203286	0	0					g.chr9:101552487A>G	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.761T>C	chr9.hg19:g.101552487A>G	ENSP00000297837:p.Leu254Pro	0					ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P|ANKS6_ENST00000375019.2_Intron	p.L254P			0	0	0	1.938587	Q68DC2	ANKS6_HUMAN		2	808	-		Acute lymphoblastic leukemia(62;0.0527)	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	1	1	hg19	c.761T>C	CCDS43856.1	0	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.64260	0.59;0.59;-0.09	5.48	5.48	0.80851	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.255608	0.37219	N	0.002190	T	0.62575	0.2439	N	0.16166	0.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69824	0.966	T	0.62618	-0.6816	10	0.29301	T	0.29	-18.4596	13.5146	0.61533	1.0:0.0:0.0:0.0	.	254	Q68DC2	ANKS6_HUMAN	P	254;254;59	ENSP00000364158:L254P;ENSP00000297837:L254P;ENSP00000442189:L59P	ENSP00000297837:L254P	L	-	2	0	0	ANKS6	100592308	100592308	1.000000	0.71417	0.987000	0.45799	0.775000	0.43874	6.096000	0.71446	2.079000	0.62486	0.459000	0.35465	CTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	0	0	1		2	2	2	0		0	0	77		77	74	1	2.060000	-11.924720	1	0.170000	NM_173551			12	12		388	387	0		1	0		0	0	77	0		9.991325e-01	1.946490e-01	0	1	0	24	0	12	388
COL15A1	1306	broad.mit.edu	37	9	101747863	101747863	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	39					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)			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)				CTTCCCAGGGTCACCTGGACC	0.557																																						ENST00000375001.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999373	0.990000	1.000000																										0				107						c.(115-117)ggT>ggC		collagen, type XV, alpha 1							61.0	57.0	59.0					9																	101747863		2203	4300	6503	SO:0001819	synonymous_variant	1306	0	0					g.chr9:101747863T>C	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.117T>C	chr9.hg19:g.101747863T>C		0						p.G39G	NM_001855.3	NP_001846.3	0	0	0	1.938587	P39059	COFA1_HUMAN		3	540	+		Acute lymphoblastic leukemia(62;0.0562)	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	1	1	hg19	c.117T>C	CCDS35081.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_001855			25	25		141	137	1		1	0		0	0	30	0		9.999999e-01	1	0	0	0	264	0	25	141
COL15A1	1306	broad.mit.edu	37	9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	148	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)			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)				TGTCCCAAGAGGCTGCTGCCT	0.607																																						ENST00000375001.3	1.000000	0.790000	1	9.000000e-01	0.990000	0.966728	0.990000	1.000000																										0				107						c.(442-444)gaG>gaT		collagen, type XV, alpha 1							109.0	102.0	104.0					9																	101748190		2203	4300	6503	SO:0001583	missense	1306	0	0					g.chr9:101748190G>T	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.444G>T	chr9.hg19:g.101748190G>T	ENSP00000364140:p.Glu148Asp	0						p.E148D	NM_001855.3	NP_001846.3	0	0	0	1.938587	P39059	COFA1_HUMAN		3	867	+		Acute lymphoblastic leukemia(62;0.0562)	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	1	1	hg19	c.444G>T	CCDS35081.1	1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377008	0.42105	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73258	-0.73	5.25	2.34	0.29019	5.25	2.34	0.29019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.288347	0.37261	N	0.002174	T	0.79311	0.4424	M	0.79475	2.455	0.33746	D	0.620079	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.992	T	0.79017	-0.1975	10	0.19147	T	0.46	-12.1142	8.0718	0.30693	0.3319:0.0:0.6681:0.0	.	148;118	P39059;B3KTP7	COFA1_HUMAN;.	D	148;118	ENSP00000364140:E148D	ENSP00000364140:E148D	E	+	3	2	2	COL15A1	100788011	100788011	0.660000	0.27420	0.955000	0.39395	0.740000	0.42216	-0.118000	0.10692	0.280000	0.22209	0.650000	0.86243	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-16.378850	1	0.170000	NM_001855			59	58		593	576	0		1	0		0	0	114	0		1	1	0	0	0	261	0	59	593
COL15A1	1306	broad.mit.edu	37	9	101782700	101782700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	559	Triple-helical region 1 (COL1).				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)			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)				GAATGAAAGGACAGGCTGGGC	0.453																																						ENST00000375001.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999755	0.990000	1.000000																										0				107						c.(1675-1677)ggA>ggG		collagen, type XV, alpha 1							148.0	129.0	135.0					9																	101782700		2203	4300	6503	SO:0001819	synonymous_variant	1306	0	0					g.chr9:101782700A>G	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.1677A>G	chr9.hg19:g.101782700A>G		0						p.G559G	NM_001855.3	NP_001846.3	0	0	0	1.938587	P39059	COFA1_HUMAN		12	2100	+		Acute lymphoblastic leukemia(62;0.0562)	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	1	1	hg19	c.1677A>G	CCDS35081.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-17.216200	1	0.170000	NM_001855			35	35		212	209	1		1	0		0	0	54	0		1	1	0	0	0	235	0	35	212
TGFBR1	7046	broad.mit.edu	37	9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408																																						ENST00000374994.4	1.000000	0.650000	1	7.700000e-01	0.900000	0.894433	0.900000	1.000000																										0				27						c.(841-843)Gat>Aat		transforming growth factor, beta receptor 1							197.0	169.0	179.0					9																	101904853		2203	4300	6503	SO:0001583	missense	7046	0	0					g.chr9:101904853G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.841G>A	chr9.hg19:g.101904853G>A	ENSP00000364133:p.Asp281Asn	0					TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N	p.D281N	NM_004612.2	NP_004603.1	0	0	0	1.938587	P36897	TGFR1_HUMAN		5	958	+		Acute lymphoblastic leukemia(62;0.0559)	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	1	1	hg19	c.841G>A	CCDS6738.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.598606	0.96614	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.87	5.87	0.94306	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	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62740	0.906;0.866	D	0.98016	1.0368	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	204;281	P36897-3;P36897	.;TGFR1_HUMAN	N	281;281;204;285;212	ENSP00000364133:D281N;ENSP00000364129:D204N;ENSP00000447297:D285N;ENSP00000450052:D212N	ENSP00000364129:D204N	D	+	1	0	0	TGFBR1	100944674	100944674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	1	0	1		2	2	2	0		0	0	105		105	105	1	2.060000	-10.237480	1	0.170000				37	37		426	415	1		1	1	1	0	0	105	382		1	9.998436e-01	1	22	38	130	390	37	426
NR4A3	8013	broad.mit.edu	37	9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000395097.2	+	3	955	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M|NR4A3_ENST00000330847.1_Missense_Mutation_p.V87M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	76					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)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000395097.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		9	9q22	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""				M	M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0										c.(226-228)Gtg>Atg		nuclear receptor subfamily 4, group A, member 3							95.0	80.0	85.0					9																	102590550		2203	4300	6503	SO:0001583	missense	8013	0	0					g.chr9:102590550G>A	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.226G>A	chr9.hg19:g.102590550G>A	ENSP00000378531:p.Val76Met	0					NR4A3_ENST00000330847.1_Missense_Mutation_p.V87M|NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M	p.V76M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	0	0	0	1.938587	Q92570	NR4A3_HUMAN		3	955	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	1	1	hg19	c.226G>A	CCDS6743.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514878	0.44763	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.76;-2.33;-2.78	5.47	2.57	0.30868	5.47	2.57	0.30868	.	3.416260	0.01217	N	0.007998	T	0.81659	0.4869	N	0.08118	0	0.28909	N	0.892828	B;B;B	0.31459	0.117;0.071;0.324	B;B;B	0.23716	0.048;0.022;0.048	T	0.73503	-0.3962	10	0.72032	D	0.01	.	7.4995	0.27509	0.0:0.5911:0.2697:0.1391	.	87;76;76	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	76;76;87	ENSP00000378531:V76M;ENSP00000340301:V76M;ENSP00000333122:V87M	ENSP00000333122:V87M	V	+	1	0	0	NR4A3	101630371	101630371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.037000	0.30241	0.341000	0.23771	-0.357000	0.07601	GTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000				60	59		343	330	1		1	0		0	0	84	0		1	1.668228e-01	0	0	0	5	0	60	343
NR4A3	8013	broad.mit.edu	37	9	102595604	102595604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000395097.2	+	5	1851	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000330847.1_Silent_p.L385L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					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)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000395097.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q22	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""				M	M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0										c.(1120-1122)ctG>ctA		nuclear receptor subfamily 4, group A, member 3							199.0	172.0	182.0					9																	102595604		2203	4300	6503	SO:0001819	synonymous_variant	8013	1	121412	31				g.chr9:102595604G>A	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.1122G>A	chr9.hg19:g.102595604G>A		0					NR4A3_ENST00000330847.1_Silent_p.L385L|NR4A3_ENST00000338488.4_Silent_p.L374L	p.L374L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	0	0	0	1.938587	Q92570	NR4A3_HUMAN		5	1851	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	1	1	hg19	c.1122G>A	CCDS6743.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000				65	64		344	338	1		1	0		0	0	81	0		1	4.343518e-01	0	1	0	8	0	65	344
ERP44	23071	broad.mit.edu	37	9	102747327	102747327	+	Silent	SNP	G	G	A	rs572046036	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	347					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)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGTCAAATACGAATTGCTTGA	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.002					ENST00000262455.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999958	0.990000	1.000000																										0				19						c.(1039-1041)ttC>ttT		endoplasmic reticulum protein 44							90.0	86.0	88.0					9																	102747327		2203	4300	6503	SO:0001819	synonymous_variant	23071	10	121412	36				g.chr9:102747327G>A	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.1041C>T	chr9.hg19:g.102747327G>A		0						p.F347F	NM_015051.1	NP_055866.1	0	0	0	1.938587	Q9BS26	ERP44_HUMAN		11	1240	-			O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	ENST00000262455.6	1	1	hg19	c.1041C>T	CCDS35082.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-3.277532	1	0.170000	XM_088476			28	28		122	120	1		1	1		0	0	37	0		1	1	0	108	0	450	0	28	122
TMEFF1	8577	broad.mit.edu	37	9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	253					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGACTACAATATCGACCAGA	0.353																																						ENST00000374879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(757-759)Tat>Cat		transmembrane protein with EGF-like and two follistatin-like domains 1							128.0	120.0	122.0					9																	103312424		2203	4300	6503	SO:0001583	missense	8577	0	0					g.chr9:103312424T>C	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.757T>C	chr9.hg19:g.103312424T>C	ENSP00000364013:p.Tyr253His	0					TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T	p.Y253H	NM_003692.4	NP_003683.2	0	0	0	1.938587	Q8IYR6	TEFF1_HUMAN		7	1189	+		Acute lymphoblastic leukemia(62;0.0452)	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	1	1	hg19	c.757T>C	CCDS6750.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.102245|2.102245	0.37145|0.37145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.58060	.|0.39;0.36	5.74|5.74	5.74|5.74	0.90152|0.90152	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.341708	.|0.31624	.|N	.|0.007334	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.36267|0.36267	D|D	0.854935|0.854935	.|P;P	.|0.41366	.|0.747;0.545	.|B;B	.|0.42738	.|0.396;0.149	T|T	0.40478|0.40478	-0.9561|-0.9561	5|10	.|0.16420	.|T	.|0.52	-36.4037|-36.4037	9.3072|9.3072	0.37883|0.37883	0.1602:0.0:0.0:0.8398|0.1602:0.0:0.0:0.8398	.|.	.|253;214	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	T|H	216|214;253	.|ENSP00000334447:Y214H;ENSP00000364013:Y253H	.|ENSP00000334447:Y214H	I|Y	+|+	2|1	0|0	0|0	C9orf30-TMEFF1|TMEFF1	102352245|102352245	102352245|102352245	0.999000|0.999000	0.42202|0.42202	0.949000|0.949000	0.38748|0.38748	0.979000|0.979000	0.70002|0.70002	3.771000|3.771000	0.55318|0.55318	2.182000|2.182000	0.69389|0.69389	0.477000|0.477000	0.44152|0.44152	ATA|TAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_003692			55	53		251	244	1		1	0		0	0	63	0		1	9.218525e-01	0	1	0	21	0	55	251
PLPPR1	54886	broad.mit.edu	37	9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	rs139319180	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		182					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GGAACATTTGTACTGGGGACC	0.507																																						ENST00000374874.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0										c.(544-546)tgT>tgG									91.0	86.0	88.0					9																	104071653		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr9:104071653T>G																												ENST00000374874.3:c.546T>G	chr9.hg19:g.104071653T>G	ENSP00000364008:p.Cys182Trp	0					LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	p.C182W	NM_207299.1	NP_997182.1	0	0	0	1.938587	Q8TBJ4	LPPR1_HUMAN		5	985	+			Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	1	0	hg19	c.546T>G	CCDS6751.1	1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765742	0.69878	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.76968	-1.06;-1.06	5.32	-8.08	0.01094	5.32	-8.08	0.01094	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90954	0.4807	10	0.87932	D	0	-6.3471	21.8754	0.99962	0.0:0.8477:0.0:0.1523	.	166;182	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	W	182	ENSP00000364008:C182W;ENSP00000378496:C182W	ENSP00000364005:C182W	C	+	3	2	2	RP11-35N6.1	103111474	103111474	0.934000	0.31675	0.180000	0.23079	0.970000	0.65996	0.094000	0.15107	-1.516000	0.01782	-0.353000	0.07706	TGT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1	0	0	1		2	2	2	0		0	0	65		65	65	1	2.060000	-20.000000	1	0.170000				58	57		358	353	1		1	0		0	0	65	0		1	0	0	0	0	1	0	58	358
BAAT	570	broad.mit.edu	37	9	104124866	104124866	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000395051.3	-	3	1171	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000259407.2_Silent_p.P367P			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	367					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547																																						ENST00000395051.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1099-1101)ccC>ccA		bile acid CoA:amino acid N-acyltransferase	Glycine(DB00145)						213.0	182.0	193.0					9																	104124866		2203	4300	6503	SO:0001819	synonymous_variant	570	0	0					g.chr9:104124866G>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1101C>A	chr9.hg19:g.104124866G>T		0					BAAT_ENST00000259407.2_Silent_p.P367P	p.P367P			0	0	0	1.938587	Q14032	BAAT_HUMAN		3	1171	-		Acute lymphoblastic leukemia(62;0.0559)	Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	1	1	hg19	c.1101C>A	CCDS6752.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.174563	1	0.170000				57	57		227	221	1		1	1		0	0	68	0		1	9.875960e-01	0	5	0	25	0	57	227
BAAT	570	broad.mit.edu	37	9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000395051.3	-	2	606	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000259407.2_Missense_Mutation_p.S179N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	179					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473																																						ENST00000395051.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(535-537)aGc>aAc		bile acid CoA:amino acid N-acyltransferase	Glycine(DB00145)						58.0	57.0	58.0					9																	104130535		2203	4300	6503	SO:0001583	missense	570	0	0					g.chr9:104130535C>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.536G>A	chr9.hg19:g.104130535C>T	ENSP00000378491:p.Ser179Asn	0					BAAT_ENST00000259407.2_Missense_Mutation_p.S179N	p.S179N			0	0	0	1.938587	Q14032	BAAT_HUMAN		2	606	-		Acute lymphoblastic leukemia(62;0.0559)	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	1	1	hg19	c.536G>A	CCDS6752.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601316	0.46423	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.075012	0.56097	D	0.000039	T	0.71091	0.3299	M	0.92738	3.34	0.34653	D	0.721905	D	0.89917	1.0	D	0.74348	0.983	D	0.84447	0.0586	10	0.87932	D	0	-14.1565	14.709	0.69215	0.0:1.0:0.0:0.0	.	179	Q14032	BAAT_HUMAN	N	179	ENSP00000259407:S179N;ENSP00000378491:S179N	ENSP00000259407:S179N	S	-	2	0	0	BAAT	103170356	103170356	0.041000	0.20044	0.970000	0.41538	0.167000	0.22549	3.001000	0.49488	2.328000	0.79073	0.561000	0.74099	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1	1	0	1		2	2	2	0		0	0	62		62	58	1	2.060000	-20.000000	1	0.170000				64	61		272	242	1		1	1		0	0	62	0		1	8.804757e-01	0	8	0	10	0	64	272
ZNF189	7743	broad.mit.edu	37	9	104170227	104170227	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000339664.2	+	3	306	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZNF189_ENST00000374861.3_Silent_p.D45D|ZNF189_ENST00000259395.4_Silent_p.D17D	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)				TGAACAGAGATAAGGATGAGG	0.358																																						ENST00000339664.2	1.000000	0.840000	1	9.900000e-01	0.990000	0.989992	0.990000	1.000000																										0				26						c.(175-177)gaT>gaC		zinc finger protein 189							51.0	54.0	53.0					9																	104170227		2202	4300	6502	SO:0001819	synonymous_variant	7743	0	0					g.chr9:104170227T>C	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.177T>C	chr9.hg19:g.104170227T>C		0					ZNF189_ENST00000374861.3_Silent_p.D45D|ZNF189_ENST00000259395.4_Silent_p.D17D	p.D59D	NM_001278240.1	NP_001265169.1	0	0	0	1.938587	O75820	ZN189_HUMAN		3	306	+		Acute lymphoblastic leukemia(62;0.0559)	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	1	1	hg19	c.177T>C	CCDS6754.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-19.997970	1	0.170000	NM_003452			13	13		81	81	1		1	1		0	0	21	0		9.996649e-01	9.992404e-01	0	15	0	68	0	13	81
ZNF189	7743	broad.mit.edu	37	9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000339664.2	+	3	884	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF189_ENST00000374861.3_Missense_Mutation_p.R238M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	252					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)			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)				AAACATCAAAGGATTCATACA	0.423																																						ENST00000339664.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(754-756)aGg>aTg		zinc finger protein 189		G	MET/ARG,MET/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	189.0	187.0		755,629	4.7	1.0	9	dbSNP_134	187	0,8600		0,0,4300	no	missense,missense	ZNF189	NM_003452.2,NM_197977.1	91,91	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	252/627,210/585	104170805	1,13005	2203	4300	6503	SO:0001583	missense	7743	1	121412	29				g.chr9:104170805G>T	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.755G>T	chr9.hg19:g.104170805G>T	ENSP00000342019:p.Arg252Met	0					ZNF189_ENST00000374861.3_Missense_Mutation_p.R238M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	p.R252M	NM_001278240.1	NP_001265169.1	0	0	0	1.938587	O75820	ZN189_HUMAN		3	884	+		Acute lymphoblastic leukemia(62;0.0559)	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	1	1	hg19	c.755G>T	CCDS6754.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669524	0.47677	2.27E-4	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.02472	4.28;4.28;4.28	4.67	4.67	0.58626	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.13072	0.0317	M	0.63428	1.95	0.38357	D	0.944495	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.978;0.977	T	0.00197	-1.1930	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	237;238;252	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	M	238;252;210	ENSP00000363995:R238M;ENSP00000342019:R252M;ENSP00000259395:R210M	ENSP00000259395:R210M	R	+	2	0	0	ZNF189	103210626	103210626	0.035000	0.19736	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.882000	0.98803	0.655000	0.94253	AGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	1	0	1		2	2	2	0		0	0	267		267	266	1	2.060000	-20.000000	1	0.170000	NM_003452			216	214		932	912	1		1	1		0	0	267	0		1	9.999987e-01	0	15	0	66	0	216	932
ALDOB	229	broad.mit.edu	37	9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	32					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428																																						ENST00000374855.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				24						c.(94-96)Gct>Act		aldolase B, fructose-bisphosphate							110.0	96.0	100.0					9																	104193076		2203	4300	6503	SO:0001583	missense	229	0	0					g.chr9:104193076C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.94G>A	chr9.hg19:g.104193076C>T	ENSP00000363988:p.Ala32Thr	0					ALDOB_ENST00000468981.3_5'Flank	p.A32T	NM_000035.3	NP_000026.2	0	0	0	1.938587	P05062	ALDOB_HUMAN		2	218	-		Acute lymphoblastic leukemia(62;0.0559)	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	1	1	hg19	c.94G>A	CCDS6756.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.243158	0.95272	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.93547	-3.24	5.63	5.63	0.86233	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.82433	2.59	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.96813	0.9598	10	0.62326	D	0.03	-18.5194	19.045	0.93016	0.0:1.0:0.0:0.0	.	32	P05062	ALDOB_HUMAN	T	32	ENSP00000363988:A32T	ENSP00000363988:A32T	A	-	1	0	0	ALDOB	103232897	103232897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.469887	1	0.170000				46	46		203	200	1		1	1		0	0	51	0		1	1	0	97	0	75	0	46	203
RNF20	56254	broad.mit.edu	37	9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A	rs567126384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	179					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)			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)		GGAACGTGTGGAGTCTTCCCG	0.517																																						ENST00000389120.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				54						c.(535-537)Gag>Aag		ring finger protein 20, E3 ubiquitin protein ligase							68.0	73.0	71.0					9																	104303164		2203	4300	6503	SO:0001583	missense	56254	0	0					g.chr9:104303164G>A	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.535G>A	chr9.hg19:g.104303164G>A	ENSP00000373772:p.Glu179Lys	0						p.E179K	NM_019592.5	NP_062538.5	0	0	0	1.938587	Q5VTR2	BRE1A_HUMAN		5	625	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	1	1	hg19	c.535G>A	CCDS35084.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852273	0.71719	.	.	ENSG00000155827	ENST00000389120;ENST00000374819	T	0.79247	-1.25	4.37	4.37	0.52481	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87856	0.2661	10	0.66056	D	0.02	-18.7071	17.0518	0.86521	0.0:0.0:1.0:0.0	.	179	Q5VTR2	BRE1A_HUMAN	K	179	ENSP00000373772:E179K	ENSP00000363952:E179K	E	+	1	0	0	RNF20	103342985	103342985	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.540000	0.82074	2.439000	0.82584	0.455000	0.32223	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	1	0	1		2	2	2	0		0	0	67		67	64	1	2.060000	-20.000000	1	0.170000	NM_019592			64	59		367	351	1		1	1		0	0	67	0		1	9.999865e-01	0	26	0	68	0	64	367
GRIN3A	116443	broad.mit.edu	37	9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	794					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)			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)	GACAGTTCCAAAGCGGAATCC	0.363																																						ENST00000361820.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2380-2382)tTt>tGt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	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)						96.0	86.0	90.0					9																	104390655		2203	4300	6503	SO:0001583	missense	116443	0	0					g.chr9:104390655A>C		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.2381T>G	chr9.hg19:g.104390655A>C	ENSP00000355155:p.Phe794Cys	0						p.F794C	NM_133445.2	NP_597702.2	0	0	0	1.938587	Q8TCU5	NMD3A_HUMAN		4	2981	-		Acute lymphoblastic leukemia(62;0.0568)	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	1	1	hg19	c.2381T>G	CCDS6758.1	1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.85	5.85	0.93711	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52749	-0.8534	10	0.49607	T	0.09	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	794	Q8TCU5	NMD3A_HUMAN	C	794	ENSP00000355155:F794C	ENSP00000355155:F794C	F	-	2	0	0	GRIN3A	103430476	103430476	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	TTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000				54	53		226	224	1		1			0	0	40	0		1	0	0	0	0	0	0	54	226
GRIN3A	116443	broad.mit.edu	37	9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	653					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)			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)	AAGATGCCCAAGCTGGTGGAG	0.537																																						ENST00000361820.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(1957-1959)Ttg>Gtg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	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)						76.0	79.0	78.0					9																	104432737		2203	4300	6503	SO:0001583	missense	116443	0	0					g.chr9:104432737A>C		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.1957T>G	chr9.hg19:g.104432737A>C	ENSP00000355155:p.Leu653Val	0						p.L653V	NM_133445.2	NP_597702.2	0	0	0	1.938587	Q8TCU5	NMD3A_HUMAN		3	2557	-		Acute lymphoblastic leukemia(62;0.0568)	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	1	1	hg19	c.1957T>G	CCDS6758.1	1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134427	0.56828	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.63	4.5	0.54988	5.63	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000004	T	0.55862	0.1947	L	0.41961	1.31	0.53688	D	0.99997	P	0.47191	0.891	P	0.59825	0.864	T	0.54098	-0.8344	10	0.46703	T	0.11	.	11.7737	0.51972	0.931:0.0:0.069:0.0	.	653	Q8TCU5	NMD3A_HUMAN	V	653	ENSP00000355155:L653V	ENSP00000355155:L653V	L	-	1	2	2	GRIN3A	103472558	103472558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	1.084000	0.41184	0.473000	0.43528	TTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	0	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-20.000000	1	0.170000				87	87		328	317	1		1			0	0	101	0		1	0	0	0	0	0	0	87	328
GRIN3A	116443	broad.mit.edu	37	9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	291					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)			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)	ATAGAACCAAGGTGGAACTTG	0.483																																						ENST00000361820.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				80						c.(871-873)Ctt>Att		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	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)						148.0	132.0	138.0					9																	104449311		2203	4300	6503	SO:0001583	missense	116443	0	0					g.chr9:104449311G>T		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.871C>A	chr9.hg19:g.104449311G>T	ENSP00000355155:p.Leu291Ile	0						p.L291I	NM_133445.2	NP_597702.2	0	0	0	1.938587	Q8TCU5	NMD3A_HUMAN		2	1471	-		Acute lymphoblastic leukemia(62;0.0568)	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	1	1	hg19	c.871C>A	CCDS6758.1	1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238174	0.58886	.	.	ENSG00000198785	ENST00000361820	T	0.12147	2.71	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.15782	0.0380	L	0.59436	1.845	0.52501	D	0.999952	B	0.29988	0.264	B	0.28011	0.085	T	0.02958	-1.1089	10	0.23891	T	0.37	.	14.2897	0.66268	0.0706:0.0:0.9294:0.0	.	291	Q8TCU5	NMD3A_HUMAN	I	291	ENSP00000355155:L291I	ENSP00000355155:L291I	L	-	1	0	0	GRIN3A	103489132	103489132	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.603000	0.46266	2.759000	0.94783	0.557000	0.71058	CTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.142759	1	0.170000				63	63		405	396	1		1			0	0	93	0		1	0	0	0	0	0	0	63	405
CYLC2	1539	broad.mit.edu	37	9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	73	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373																																						ENST00000374798.3	1.000000	0.800000	1	9.900000e-01	0.990000	0.985051	0.990000	1.000000																										0				41						c.(217-219)caA>caC		cylicin, basic protein of sperm head cytoskeleton 2							84.0	81.0	82.0					9																	105767015		2203	4300	6503	SO:0001583	missense	1539	0	0					g.chr9:105767015A>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.219A>C	chr9.hg19:g.105767015A>C	ENSP00000420256:p.Gln73His	0					CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	p.Q73H	NM_001340.3	NP_001331.1	0	0	0	1.938587	Q14093	CYLC2_HUMAN		4	289	+		all_hematologic(171;0.125)	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	1	1	hg19	c.219A>C	CCDS35085.1	1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868610	0.32977	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14516	2.5;2.5	4.38	3.24	0.37175	4.38	3.24	0.37175	.	1.048800	0.07642	N	0.930445	T	0.17323	0.0416	N	0.22421	0.69	0.23421	N	0.997713	D	0.62365	0.991	P	0.56088	0.791	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.8804	6.5659	0.22511	0.8906:0.0:0.1094:0.0	.	73	Q14093	CYLC2_HUMAN	H	73	ENSP00000420256:Q73H;ENSP00000417674:Q73H	ENSP00000420256:Q73H	Q	+	3	2	2	CYLC2	104806836	104806836	0.079000	0.21365	0.679000	0.29978	0.248000	0.25809	0.671000	0.25172	0.838000	0.34948	0.482000	0.46254	CAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_001340			18	16		138	136	0		1			0	0	55	0		9.999840e-01	0	0	0	0	0	0	18	138
SMC2	10592	broad.mit.edu	37	9	106860764	106860764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106860764G>A	ENST00000286398.7	+	4	644	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SMC2_ENST00000374787.3_Missense_Mutation_p.G119E|SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E	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	119					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)			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						TTAATCAATGGAGTCAATGCC	0.353																																						ENST00000286398.7	0.440000	0.120000	3.500000e-01	1.800000e-01	0.250000	0.271383	0.250000	0.250000																										0				48						c.(355-357)gGa>gAa		structural maintenance of chromosomes 2							160.0	154.0	156.0					9																	106860764		2203	4299	6502	SO:0001583	missense	10592	0	0					g.chr9:106860764G>A	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.356G>A	chr9.hg19:g.106860764G>A	ENSP00000286398:p.Gly119Glu	0					SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E	p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	0	0	0	1.938587	O95347	SMC2_HUMAN		4	644	+			Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	0	1	hg19	c.356G>A	CCDS35086.1	0	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039267	0.93630	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.76	5.76	0.90799	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.88640	2.97	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	0.42732	-0.9434	10	0.87932	D	0	-24.1498	18.9014	0.92444	0.0:0.0:1.0:0.0	.	119;119;119	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	E	119	ENSP00000286398:G119E;ENSP00000363925:G119E;ENSP00000306152:G119E;ENSP00000363919:G119E	ENSP00000286398:G119E	G	+	2	0	0	SMC2	105900585	105900585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	GGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	1		2	2	2	0		0	0	64		64	62	1	2.060000	-3.116604	1	0.170000				9	9		404	395	0		1	0		0	0	64	0		9.937334e-01	1.660452e-01	0	0	0	30	0	9	404
SMC2	10592	broad.mit.edu	37	9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*	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	449					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)			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						GAAGGATCAAGAAGCTCTAGA	0.353																																						ENST00000286398.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				48						c.(1345-1347)Gaa>Taa		structural maintenance of chromosomes 2							69.0	71.0	71.0					9																	106875687		2203	4299	6502	SO:0001587	stop_gained	10592	0	0					g.chr9:106875687G>T	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.1345G>T	chr9.hg19:g.106875687G>T	ENSP00000286398:p.Glu449*	0					SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	0	0	0	1.938587	O95347	SMC2_HUMAN		11	1633	+			Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	0	1	hg19	c.1345G>T	CCDS35086.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.432230	0.98808	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.86	3.96	0.45880	4.86	3.96	0.45880	.	0.276742	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8318	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	.	.	.	X	449	.	ENSP00000286398:E449X	E	+	1	0	0	SMC2	105915508	105915508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.341000	0.79300	1.265000	0.44215	0.650000	0.86243	GAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				47	47		259	256	1		1	0		0	0	71	0		1	9.583508e-01	0	0	0	31	0	47	259
SMC2	10592	broad.mit.edu	37	9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V|SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V	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	1054					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)			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						GGTGCTAATGCTATGCTTGCA	0.398																																						ENST00000286398.7	0.630000	0.230000	5.200000e-01	3.000000e-01	0.400000	0.419015	0.400000	0.400000																										0				48						c.(3160-3162)gCt>gTt		structural maintenance of chromosomes 2							122.0	120.0	121.0					9																	106896748		2203	4300	6503	SO:0001583	missense	10592	0	0					g.chr9:106896748C>T	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.3161C>T	chr9.hg19:g.106896748C>T	ENSP00000286398:p.Ala1054Val	0					SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V	p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	0	0	0	1.938587	O95347	SMC2_HUMAN		23	3449	+			Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	1	1	hg19	c.3161C>T	CCDS35086.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.406271	0.96051	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.79	5.79	0.91817	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-12.3446	18.6078	0.91272	0.0:1.0:0.0:0.0	.	1054	O95347	SMC2_HUMAN	V	1054	ENSP00000286398:A1054V;ENSP00000363925:A1054V;ENSP00000306152:A1054V;ENSP00000363919:A1054V	ENSP00000286398:A1054V	A	+	2	0	0	SMC2	105936569	105936569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.741000	0.93983	0.484000	0.47621	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.654700	1	0.170000				14	14		387	379	1		1	1		0	0	50	0		9.997289e-01	5.247596e-01	0	8	0	40	0	14	387
OR13F1	138805	broad.mit.edu	37	9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	94			F -> S (in dbSNP:rs7018553).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517																																						ENST00000334726.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(280-282)ttC>ttA		olfactory receptor, family 13, subfamily F, member 1							115.0	103.0	107.0					9																	107266825		2203	4300	6503	SO:0001583	missense	138805	0	0					g.chr9:107266825C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.282C>A	chr9.hg19:g.107266825C>A	ENSP00000334452:p.Phe94Leu	0						p.F94L	NM_001004485.1	NP_001004485.1	0	0	0	1.938587	Q8NGS4	O13F1_HUMAN		1	371	+			Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	1	1	hg19	c.282C>A	CCDS35087.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965343	0.34659	.	.	ENSG00000186881	ENST00000334726	T	0.00327	8.09	4.26	2.43	0.29744	4.26	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.64404	1.975	0.24525	N	0.994144	B	0.33022	0.394	B	0.33521	0.165	T	0.40251	-0.9573	10	0.66056	D	0.02	.	3.8682	0.09025	0.1898:0.6118:0.0:0.1984	.	94	Q8NGS4	O13F1_HUMAN	L	94	ENSP00000334452:F94L	ENSP00000334452:F94L	F	+	3	2	2	OR13F1	106306646	106306646	0.000000	0.05858	0.991000	0.47740	0.778000	0.44026	-0.041000	0.12084	0.759000	0.33084	-0.145000	0.13849	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000				81	79		383	378	1		1			0	0	79	0		1	0	0	0	0	0	0	81	383
OR13C4	138804	broad.mit.edu	37	9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	rs373326335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383																																						ENST00000277216.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(493-495)Cga>Tga		olfactory receptor, family 13, subfamily C, member 4		A	stop/ARG	0,4406		0,0,2203	120.0	113.0	115.0		493	-8.2	0.0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR13C4	NM_001001919.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		165/319	107288998	1,13005	2203	4300	6503	SO:0001587	stop_gained	138804	6	121412	38				g.chr9:107288998G>A		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.493C>T	chr9.hg19:g.107288998G>A	ENSP00000277216:p.Arg165*	0						p.R165*	NM_001001919.1	NP_001001919.1	0	0	0	1.938587	Q8NGS5	O13C4_HUMAN		1	492	-			Q6IF51|Q96R41	Nonsense_Mutation	SNP	ENST00000277216.3	0	1	hg19	c.493C>T	CCDS35088.1	1	.	.	.	.	.	.	.	.	.	.	g	5.300	0.240786	0.10077	0.0	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	.	.	.	4.12	-8.23	0.01033	4.12	-8.23	0.01033	.	2.814870	0.01724	U	0.028469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.676	0.17749	0.3553:0.0:0.1292:0.5156	.	.	.	.	X	165;194	.	ENSP00000277216:R165X	R	-	1	2	2	OR13C4	106328819	106328819	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.043000	0.00631	-1.604000	0.01595	-2.730000	0.00130	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1	0	0	0		17	2	2	1		1	1	113		113	113	1	2.060000	-20.000000	1	0.170000				92	90		490	481	0		1			1	0	113	0		1	0	0	0	0	0	0	92	490
OR13C8	138802	broad.mit.edu	37	9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413													T|||	2	0.000399361	0.0	0.0	5008	,	,		20999	0.0		0.002	False		,,,				2504	0.0					ENST00000335040.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(712-714)Ttc>Gtc		olfactory receptor, family 13, subfamily C, member 8		T	VAL/PHE	0,4406		0,0,2203	144.0	135.0	138.0		712	4.9	1.0	9	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR13C8	NM_001004483.1	50	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	238/321	107332160	2,13004	2203	4300	6503	SO:0001583	missense	138802	36	121412	49				g.chr9:107332160T>G		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.712T>G	chr9.hg19:g.107332160T>G	ENSP00000334068:p.Phe238Val	0						p.F238V	NM_001004483.1	NP_001004483.1	0	0	0	1.938587	Q8NGS7	O13C8_HUMAN		1	712	+			Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	1	1	hg19	c.712T>G	CCDS35090.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	16.44	3.122941	0.56613	0.0	2.33E-4	ENSG00000186943	ENST00000335040	T	0.00291	8.27	4.9	4.9	0.64082	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.01029	0.0034	H	0.95402	3.665	0.31828	N	0.625145	D	0.76494	0.999	D	0.77004	0.989	T	0.01520	-1.1334	10	0.87932	D	0	.	12.791	0.57534	0.0:0.0:0.0:1.0	.	238	Q8NGS7	O13C8_HUMAN	V	238	ENSP00000334068:F238V	ENSP00000334068:F238V	F	+	1	0	0	OR13C8	106371981	106371981	0.762000	0.28451	1.000000	0.80357	0.996000	0.88848	1.275000	0.33144	2.181000	0.69327	0.459000	0.35465	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1	0	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.230606	1	0.170000				100	99		316	309	1		1			0	0	59	0		1	0	0	0	0	0	0	100	316
OR13C5	138799	broad.mit.edu	37	9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443																																						ENST00000374779.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(772-774)atG>atA		olfactory receptor, family 13, subfamily C, member 5							138.0	124.0	129.0					9																	107360921		2203	4300	6503	SO:0001583	missense	138799	1	121406	30				g.chr9:107360921C>T		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.774G>A	chr9.hg19:g.107360921C>T	ENSP00000363911:p.Met258Ile	0						p.M258I	NM_001004482.1	NP_001004482.1	0	0	0	1.938587	Q8NGS8	O13C5_HUMAN		1	867	-			B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	1	1	hg19	c.774G>A	CCDS35091.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271231	0.59649	.	.	ENSG00000255800	ENST00000374779	T	0.00145	8.67	4.03	2.12	0.27331	4.03	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00178	0.0005	L	0.38175	1.15	0.22858	N	0.998648	P	0.44260	0.83	P	0.49085	0.6	T	0.42999	-0.9418	10	0.59425	D	0.04	.	6.158	0.20348	0.0:0.6722:0.0:0.3278	.	258	Q8NGS8	O13C5_HUMAN	I	258	ENSP00000363911:M258I	ENSP00000363911:M258I	M	-	3	0	0	OR13C5	106400742	106400742	0.038000	0.19896	0.950000	0.38849	0.296000	0.27459	0.068000	0.14531	0.925000	0.37094	0.423000	0.28283	ATG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_001004482			77	77		298	292	1		1			0	0	90	0		1	0	0	0	0	0	0	77	298
OR13C9	286362	broad.mit.edu	37	9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAATCTTGAGGATGCTGGAA	0.438																																						ENST00000259362.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(676-678)Ctc>Atc		olfactory receptor, family 13, subfamily C, member 9							78.0	74.0	75.0					9																	107379810		2202	4300	6502	SO:0001583	missense	286362	0	0					g.chr9:107379810G>T		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.676C>A	chr9.hg19:g.107379810G>T	ENSP00000259362:p.Leu226Ile	0						p.L226I	NM_001001956.1	NP_001001956.1	0	0	0	1.938587	Q8NGT0	O13C9_HUMAN		1	675	-			Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	1	1	hg19	c.676C>A	CCDS35093.1	1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544183	0.27563	.	.	ENSG00000136839	ENST00000259362	T	0.00302	8.2	4.46	0.413	0.16401	4.46	0.413	0.16401	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000864	T	0.00328	0.0010	M	0.86805	2.84	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43475	-0.9389	10	0.56958	D	0.05	.	3.2491	0.06807	0.2734:0.0:0.4165:0.3101	.	226	Q8NGT0	O13C9_HUMAN	I	226	ENSP00000259362:L226I	ENSP00000259362:L226I	L	-	1	0	0	OR13C9	106419631	106419631	0.014000	0.17966	0.039000	0.18376	0.929000	0.56500	0.301000	0.19174	0.138000	0.18790	0.643000	0.83706	CTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-3.120955	1	0.170000				59	58		285	278	1		1			0	0	82	0		1	0	0	0	0	0	0	59	285
OR13C9	286362	broad.mit.edu	37	9	107379988	107379988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAGAAAGGCAATTGTACTA	0.443																																						ENST00000259362.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				22						c.(496-498)ttG>ttA		olfactory receptor, family 13, subfamily C, member 9							124.0	106.0	112.0					9																	107379988		2203	4300	6503	SO:0001819	synonymous_variant	286362	1	121402	28				g.chr9:107379988C>T		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.498G>A	chr9.hg19:g.107379988C>T		0						p.L166L	NM_001001956.1	NP_001001956.1	0	0	0	1.938587	Q8NGT0	O13C9_HUMAN		1	497	-			Q6IFL2	Silent	SNP	ENST00000259362.1	1	1	hg19	c.498G>A	CCDS35093.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1	1	0	1		2	2	2	0		0	0	110		110	108	1	2.060000	-3.318893	1	0.170000				60	60		383	378	0		1			0	0	110	0		1	0	0	0	0	0	0	60	383
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T	rs565850921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388																																						ENST00000374762.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(151-153)gCg>gTg		nipsnap homolog 3B (C. elegans)							134.0	135.0	135.0					9																	107528697		2203	4300	6503	SO:0001583	missense	55335	1	121412	35				g.chr9:107528697C>T	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.152C>T	chr9.hg19:g.107528697C>T	ENSP00000363894:p.Ala51Val	0					NIPSNAP3B_ENST00000461177.1_Intron	p.A51V	NM_018376.2	NP_060846.2	0	0	0	1.938587	Q9BS92	NPS3B_HUMAN		2	223	+			Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	1	1	hg19	c.152C>T	CCDS6761.1	1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541424	0.27563	.	.	ENSG00000165028	ENST00000374762	T	0.49139	0.79	3.93	-0.174	0.13319	3.93	-0.174	0.13319	Dimeric alpha-beta barrel (1);	0.311612	0.33591	N	0.004758	T	0.35913	0.0948	L	0.46157	1.445	0.29368	N	0.864236	P	0.35348	0.496	B	0.31390	0.129	T	0.30909	-0.9962	10	0.56958	D	0.05	-6.9514	11.2204	0.48851	0.527:0.473:0.0:0.0	.	51	Q9BS92	NPS3B_HUMAN	V	51	ENSP00000363894:A51V	ENSP00000363894:A51V	A	+	2	0	0	NIPSNAP3B	106568518	106568518	1.000000	0.71417	0.836000	0.33094	0.307000	0.27823	2.743000	0.47442	-0.130000	0.11599	-0.271000	0.10264	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	1	0	1		2	2	2	0		0	0	134		134	133	1	2.060000	-20.000000	1	0.170000	NM_018376			95	94		494	490	1		1	0		0	0	134	0		1	4.413320e-01	0	1	0	8	0	95	494
ABCA1	19	broad.mit.edu	37	9	107546686	107546686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2232					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)			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)	GTAATGAGAGGTCTTTTAAGT	0.373																																						ENST00000374736.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(6694-6696)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)						219.0	206.0	210.0					9																	107546686		2203	4300	6503	SO:0001819	synonymous_variant	19	0	0					g.chr9:107546686G>A	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.6696C>T	chr9.hg19:g.107546686G>A		0						p.D2232D	NM_005502.3	NP_005493.2	0	0	0	1.938587	O95477	ABCA1_HUMAN		50	7090	-			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	1	1	hg19	c.6696C>T	CCDS6762.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_005502			61	61		318	314	1		1	1		0	0	89	0		1	9.989970e-01	0	3	0	53	0	61	318
ABCA1	19	broad.mit.edu	37	9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2212					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)			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)	TGGTCAAGTGTTGTCTGAGAA	0.473																																						ENST00000374736.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999922	0.990000	1.000000																										0				115						c.(6634-6636)Aca>Gca		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)						109.0	97.0	101.0					9																	107547688		2203	4300	6503	SO:0001583	missense	19	0	0					g.chr9:107547688T>C	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.6634A>G	chr9.hg19:g.107547688T>C	ENSP00000363868:p.Thr2212Ala	0						p.T2212A	NM_005502.3	NP_005493.2	0	0	0	1.938587	O95477	ABCA1_HUMAN		49	7028	-			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	1	1	hg19	c.6634A>G	CCDS6762.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.109080	0.94292	.	.	ENSG00000165029	ENST00000374736	D	0.89270	-2.49	6.14	6.14	0.99180	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.89601	3.045	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.94760	0.7935	10	0.87932	D	0	.	16.806	0.85666	0.0:0.0:0.0:1.0	.	2212	O95477	ABCA1_HUMAN	A	2212	ENSP00000363868:T2212A	ENSP00000363868:T2212A	T	-	1	0	0	ABCA1	106587509	106587509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.529000	0.55759	ACA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-18.935440	1	0.170000	NM_005502			37	36		209	208	1		1	1		0	0	57	0		1	9.991807e-01	0	3	0	61	0	37	209
ABCA1	19	broad.mit.edu	37	9	107589230	107589230	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	779					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)			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)	GGTACTCACAGCGAAGATCTT	0.517																																						ENST00000374736.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999943	0.990000	1.000000																										0				115						c.(2335-2337)gCt>gTt		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)						90.0	77.0	81.0					9																	107589230		2203	4300	6503	SO:0001630	splice_region_variant	19	1	121412	32				g.chr9:107589230G>A	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.2337+1C>T	chr9.hg19:g.107589230G>A		0					ABCA1_ENST00000494467.1_5'UTR	p.A779V	NM_005502.3	NP_005493.2	0	0	0	1.938587	O95477	ABCA1_HUMAN		16	2730	-			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	1	0	hg19	c.2336C>T	CCDS6762.1	1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439234	0.43326	.	.	ENSG00000165029	ENST00000374736	D	0.84370	-1.84	5.45	0.529	0.17095	5.45	0.529	0.17095	.	0.434585	0.26518	N	0.023925	T	0.73908	0.3647	L	0.31804	0.96	0.37658	D	0.922663	B	0.10296	0.003	B	0.20384	0.029	T	0.60727	-0.7206	10	0.26408	T	0.33	.	9.5601	0.39364	0.3416:0.0:0.6584:0.0	.	779	O95477	ABCA1_HUMAN	V	779	ENSP00000363868:A779V	ENSP00000363868:A779V	A	-	2	0	0	ABCA1	106629051	106629051	0.965000	0.33210	0.001000	0.08648	0.573000	0.36030	2.795000	0.47861	-0.170000	0.10816	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_005502	Missense_Mutation		32	32		161	155	1		1	1		0	0	47	0		1	9.385640e-01	0	2	0	24	0	32	161
ABCA1	19	broad.mit.edu	37	9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	672					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)			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)	CCCATGATCCGCATGGTCTCT	0.527																																						ENST00000374736.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(2014-2016)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)						148.0	114.0	125.0					9																	107591298		2203	4300	6503	SO:0001583	missense	19	3	121412	37				g.chr9:107591298G>A	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.2014C>T	chr9.hg19:g.107591298G>A	ENSP00000363868:p.Arg672Trp	0					ABCA1_ENST00000494467.1_5'UTR	p.R672W	NM_005502.3	NP_005493.2	0	0	0	1.938587	O95477	ABCA1_HUMAN		15	2408	-			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	1	1	hg19	c.2014C>T	CCDS6762.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211998	0.79240	.	.	ENSG00000165029	ENST00000374736	D	0.84660	-1.88	6.02	4.03	0.46877	6.02	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94063	0.7328	10	0.87932	D	0	.	12.6248	0.56623	0.0:0.0:0.4481:0.5519	.	672	O95477	ABCA1_HUMAN	W	672	ENSP00000363868:R672W	ENSP00000363868:R672W	R	-	1	2	2	ABCA1	106631119	106631119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	1.549000	0.49425	0.655000	0.94253	CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-3.307836	1	0.170000	NM_005502			53	53		230	226	1		1	0		0	0	73	0		1	9.694290e-01	0	0	0	27	0	53	230
SLC44A1	23446	broad.mit.edu	37	9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	139					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)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353																																						ENST00000374720.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(415-417)Cta>Ata		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						111.0	110.0	110.0					9																	108110647		2203	4300	6503	SO:0001583	missense	23446	0	0					g.chr9:108110647C>A	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.415C>A	chr9.hg19:g.108110647C>A	ENSP00000363852:p.Leu139Ile	0					SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	p.L139I	NM_080546.3	NP_536856.2	0	0	0	1.938587	Q8WWI5	CTL1_HUMAN		5	662	+			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	1	1	hg19	c.415C>A	CCDS6763.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511130	0.44660	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80123	-1.34;-1.34;-1.34	5.39	3.3	0.37823	5.39	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.281;0.023	B;B	0.42214	0.38;0.007	T	0.70905	-0.4745	10	0.21014	T	0.42	-5.5214	7.2023	0.25887	0.0:0.6409:0.0:0.3591	.	139;139	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	139	ENSP00000363855:L139I;ENSP00000363852:L139I;ENSP00000363856:L139I	ENSP00000363852:L139I	L	+	1	2	2	SLC44A1	107150468	107150468	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.398000	0.34554	1.276000	0.44395	0.609000	0.83330	CTA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	1	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-2.771612	1	0.170000	NM_080546			78	77		346	330	1		1	1		0	0	66	0		1	1	0	84	0	276	0	78	346
SLC44A1	23446	broad.mit.edu	37	9	108136980	108136980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000374724.1_Silent_p.I532I|SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	532					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)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388																																						ENST00000374720.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1594-1596)atC>atT		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						163.0	150.0	154.0					9																	108136980		2203	4300	6503	SO:0001819	synonymous_variant	23446	0	0					g.chr9:108136980C>T	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.1596C>T	chr9.hg19:g.108136980C>T		0					SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374724.1_Silent_p.I532I	p.I532I	NM_080546.3	NP_536856.2	0	0	0	1.938587	Q8WWI5	CTL1_HUMAN		13	1843	+			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	1	1	hg19	c.1596C>T	CCDS6763.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	0	0	1		2	2	2	0		0	0	132		132	131	1	2.060000	-2.990807	1	0.170000	NM_080546			103	102		491	485	1		1	1		0	0	132	0		1	1	0	111	0	466	0	103	491
FKTN	2218	broad.mit.edu	37	9	108366669	108366669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000540160.1_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	181					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)			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						AGAGGAGTGGCAACTACCTCT	0.473																																						ENST00000223528.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				25						c.(541-543)ggC>ggT		fukutin							124.0	104.0	111.0					9																	108366669		2203	4300	6503	SO:0001819	synonymous_variant	2218	0	0					g.chr9:108366669C>T		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.543C>T	chr9.hg19:g.108366669C>T		0					FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G	p.G181G	NM_006731.2	NP_006722.2	0	0	0	1.938587	O75072	FKTN_HUMAN		5	667	+			B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	1	1	hg19	c.543C>T	CCDS6766.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	1	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_006731			65	62		362	359	1		1	1		0	0	106	0		1	9.807861e-01	0	4	0	33	0	65	362
TAL2	6887	broad.mit.edu	37	9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T	rs201241830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	45	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										TGAAACGCTTCGCCTGGCAAT	0.537			T	TRB@	T-ALL								.|||	1	0.000199681	0.0	0.0	5008	,	,		19605	0.001		0.0	False		,,,				2504	0.0					ENST00000334077.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q31	9q31	6887	T	T-cell acute lymphocytic leukemia 2				L	L	TRB@		T-ALL		0										c.(133-135)Cgc>Tgc		T-cell acute lymphocytic leukemia 2							103.0	95.0	98.0					9																	108424910		2203	4300	6503	SO:0001583	missense	6887	3	121412	37				g.chr9:108424910C>T		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.133C>T	chr9.hg19:g.108424910C>T	ENSP00000334547:p.Arg45Cys	0						p.R45C	NM_005421.2	NP_005412.1	0	0	0	1.938587	Q16559	TAL2_HUMAN		1	173	+			A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	1	1	hg19	c.133C>T	CCDS6767.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.6	4.435289	0.83885	.	.	ENSG00000186051	ENST00000334077	D	0.98280	-4.84	5.52	4.57	0.56435	5.52	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.6534	12.6354	0.56681	0.2812:0.7188:0.0:0.0	.	45	Q16559	TAL2_HUMAN	C	45	ENSP00000334547:R45C	ENSP00000334547:R45C	R	+	1	0	0	TAL2	107464731	107464731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.757000	0.94681	0.655000	0.94253	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.562768	1	0.170000	NM_005421			56	56		232	224	1		1			0	0	63	0		1	0	0	0	0	0	0	56	232
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					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.R115S(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						GTTCTGTGTACGCTACTTCAG	0.473																																						ENST00000277225.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R115S(1)	lung(1)	119						c.(343-345)Cgc>Tgc		zinc finger protein 462							87.0	82.0	84.0					9																	109686536		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109686536C>T	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.343C>T	chr9.hg19:g.109686536C>T	ENSP00000277225:p.Arg115Cys	0					ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C	p.R115C			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		3	632	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	1	1	hg19	c.343C>T	CCDS35096.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	0	ZNF462	108726357	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_021224			52	52		241	239	1		1	0		0	0	75	0		1	4.342507e-01	0	1	0	7	0	52	241
ZNF462	58499	broad.mit.edu	37	9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1068					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)			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						AAAACTATGCGAATGGTGTCT	0.483																																						ENST00000277225.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(3202-3204)cGa>cAa		zinc finger protein 462							141.0	137.0	138.0					9																	109689396		2203	4300	6503	SO:0001583	missense	58499	3	121412	39				g.chr9:109689396G>A	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.3203G>A	chr9.hg19:g.109689396G>A	ENSP00000277225:p.Arg1068Gln	0					ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q	p.R1068Q			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		3	3492	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	1	1	hg19	c.3203G>A	CCDS35096.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070111	0.76301	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.62	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000004	T	0.20861	0.0502	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.644	T	0.00083	-1.2101	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1068;1068	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	1068	ENSP00000277225:R1068Q;ENSP00000414570:R1068Q	ENSP00000277225:R1068Q	R	+	2	0	0	ZNF462	108729217	108729217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.526000	0.81920	2.630000	0.89119	0.655000	0.94253	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_021224			147	145		633	620	1		1	1		0	0	133	0		1	4.633940e-01	0	3	0	5	0	147	633
ZNF462	58499	broad.mit.edu	37	9	109689673	109689673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000277225.5	+	3	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	ZNF462_ENST00000441147.2_Silent_p.V5V|ZNF462_ENST00000457913.1_Silent_p.V1160V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1160					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)			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						TGAGAGGGGTCGAAGGGCCCC	0.552																																						ENST00000277225.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				119						c.(3478-3480)gtC>gtT		zinc finger protein 462							66.0	77.0	73.0					9																	109689673		2203	4300	6503	SO:0001819	synonymous_variant	58499	17	121410	46				g.chr9:109689673C>T	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.3480C>T	chr9.hg19:g.109689673C>T		0					ZNF462_ENST00000441147.2_Silent_p.V5V|ZNF462_ENST00000457913.1_Silent_p.V1160V	p.V1160V			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		3	3769	+			Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	1	1	hg19	c.3480C>T	CCDS35096.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1		2	2	2	0		0	0	152		152	147	1	2.060000	-4.175961	1	0.170000	NM_021224			172	166		628	619	0		1	0		0	0	152	0		1	6.681312e-01	0	0	0	10	0	172	628
ZNF462	58499	broad.mit.edu	37	9	109690160	109690160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109690160G>A	ENST00000277225.5	+	3	4256	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1323					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)			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						CTCCCATACGGAGCCCAACGG	0.532																																						ENST00000277225.5	0.350000	0.100000	2.800000e-01	1.500000e-01	0.200000	0.218673	0.200000	0.200000																										0				119						c.(3967-3969)Gag>Aag		zinc finger protein 462							129.0	117.0	121.0					9																	109690160		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109690160G>A	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.3967G>A	chr9.hg19:g.109690160G>A	ENSP00000277225:p.Glu1323Lys	0					ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K	p.E1323K			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		3	4256	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	0	1	hg19	c.3967G>A	CCDS35096.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.160685	0.94727	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.89;3.9	5.36	5.36	0.76844	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.19112	0.55	0.80722	D	1	P;B	0.46277	0.875;0.351	P;B	0.50405	0.64;0.277	T	0.13953	-1.0490	10	0.52906	T	0.07	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	1323;1323	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1323;1323;206;168	ENSP00000277225:E1323K;ENSP00000414570:E1323K;ENSP00000363818:E206K;ENSP00000397306:E168K	ENSP00000277225:E1323K	E	+	1	0	0	ZNF462	108729981	108729981	1.000000	0.71417	0.946000	0.38457	0.842000	0.47809	9.397000	0.97276	2.509000	0.84616	0.561000	0.74099	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	1		2	2	2	0		0	0	159		159	157	1	2.060000	-3.035308	1	0.170000	NM_021224			11	11		608	601	0		1	0		0	0	159	0		9.982441e-01	1.612798e-02	0	0	0	10	0	11	608
ZNF462	58499	broad.mit.edu	37	9	109694764	109694764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109694764C>T	ENST00000277225.5	+	5	6339	c.6050C>T	c.(6049-6051)gCc>gTc	p.A2017V	ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2017					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)			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						CTGGCCCTGGCCATGTTTACC	0.547																																						ENST00000277225.5	0.450000	0.090000	3.400000e-01	1.500000e-01	0.230000	0.253066	0.230000	0.220000																										0				119						c.(6049-6051)gCc>gTc		zinc finger protein 462							138.0	101.0	114.0					9																	109694764		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109694764C>T	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.6050C>T	chr9.hg19:g.109694764C>T	ENSP00000277225:p.Ala2017Val	0					ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V	p.A2017V			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		5	6339	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	0	1	hg19	c.6050C>T	CCDS35096.1	0	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171487	0.78452	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05996	3.36;3.85;3.95;3.96	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.062198	0.64402	D	0.000004	T	0.07098	0.0180	N	0.19112	0.55	0.80722	D	1	P;P	0.51057	0.921;0.941	P;P	0.46917	0.485;0.531	T	0.52132	-0.8616	10	0.15952	T	0.53	.	17.9881	0.89160	0.0:1.0:0.0:0.0	.	2077;2017	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	2017;2077;960;923	ENSP00000277225:A2017V;ENSP00000414570:A2077V;ENSP00000363818:A960V;ENSP00000397306:A923V	ENSP00000277225:A2017V	A	+	2	0	0	ZNF462	108734585	108734585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.488000	0.83962	0.591000	0.81541	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-6.552217	1	0.170000	NM_021224			6	6		302	296	0		1	1		0	0	77	0		9.631965e-01	1.140677e-01	0	2	0	23	0	6	302
ZNF462	58499	broad.mit.edu	37	9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000277225.5	+	8	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					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)			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						CGTGTTAGCCCTGTGCCTCTT	0.532																																						ENST00000277225.5	1.000000	0.650000	1	7.900000e-01	0.950000	0.916656	0.950000	1.000000																										0				119						c.(6517-6519)cCt>cAt		zinc finger protein 462							83.0	84.0	84.0					9																	109734376		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109734376C>A	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.6518C>A	chr9.hg19:g.109734376C>A	ENSP00000277225:p.Pro2173His	0					ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|RP11-508N12.2_ENST00000439901.1_RNA	p.P2173H			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		8	6807	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	1	1	hg19	c.6518C>A	CCDS35096.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628355	0.87560	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.16073	3.35;3.85;3.94;3.94;2.37	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00482	-1.1713	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2233;74;2173	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	H	2173;2233;1116;1079;130	ENSP00000277225:P2173H;ENSP00000414570:P2233H;ENSP00000363818:P1116H;ENSP00000397306:P1079H;ENSP00000439771:P130H	ENSP00000277225:P2173H	P	+	2	0	0	ZNF462	108774197	108774197	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	2.991000	0.49409	2.941000	0.99782	0.655000	0.94253	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.318794	1	0.170000	NM_021224			27	27		293	287	0		1	1		0	0	80	0		1	6.623191e-01	0	2	0	24	0	27	293
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C			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																																						ENST00000277225.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										1	Substitution - Missense(1)	p.R2280C(1)	large_intestine(1)	119						c.(6838-6840)Cgt>Tgt		zinc finger protein 462							84.0	81.0	82.0					9																	109746472		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109746472C>T	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	chr9.hg19:g.109746472C>T	ENSP00000277225:p.Arg2280Cys	0					ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA	p.R2280C			0	0	0	1.938587	Q96JM2	ZN462_HUMAN		10	7127	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	1	1	hg19	c.6838C>T	CCDS35096.1	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	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	0	ZNF462	108786293	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	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-3.225142	1	0.170000	NM_021224			48	45		279	275	1		1	1		0	0	83	0		1	7.363195e-01	0	4	0	13	0	48	279
RAD23B	5887	broad.mit.edu	37	9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	237					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				14						c.(709-711)gCt>gTt	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							41.0	42.0	42.0					9																	110084292		2203	4300	6503	SO:0001583	missense	5887	0	0					g.chr9:110084292C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.710C>T	chr9.hg19:g.110084292C>T	ENSP00000350708:p.Ala237Val	0					RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	p.A237V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	0	0	0	1.938587	P54727	RD23B_HUMAN		7	1061	+			B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	1	1	hg19	c.710C>T	CCDS6769.1	1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671429	0.29693	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.14;2.13	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.149642	0.64402	D	0.000013	T	0.14874	0.0359	N	0.24115	0.695	0.49130	D	0.999759	B;B;B	0.29571	0.247;0.249;0.093	B;B;B	0.30572	0.117;0.082;0.05	T	0.07539	-1.0767	10	0.10902	T	0.67	-6.0997	15.6292	0.76888	0.0:0.8624:0.1376:0.0	.	216;237;237	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	V	237;165	ENSP00000350708:A237V;ENSP00000405623:A165V	ENSP00000350708:A237V	A	+	2	0	0	RAD23B	109124113	109124113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.643000	0.54374	2.626000	0.88956	0.555000	0.69702	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-20.000000	1	0.170000	NM_002874			35	34		140	139	1		1	1		0	0	41	0		1	1	0	205	0	517	0	35	140
KLF4	9314	broad.mit.edu	37	9	110248208	110248208	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)						cellular response to cycloheximide (GO:0071409)|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 peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|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 ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTTTCTCACCTGTAAAGGTA	0.463																																						ENST00000374672.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.e5-1		Kruppel-like factor 4 (gut)							59.0	57.0	58.0					9																	110248208		2203	4300	6503	SO:0001630	splice_region_variant	9314	0	0					g.chr9:110248208C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1265-1G>T	chr9.hg19:g.110248208C>A		0							NM_004235.4	NP_004226.3	0	0	0	1.938587	O43474	KLF4_HUMAN		5	1738	-			B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Splice_Site	SNP	ENST00000374672.4	1	1	hg19		CCDS6770.2	1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708696	0.48517	.	.	ENSG00000136826	ENST00000374672	.	.	.	5.38	5.38	0.77491	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	KLF4	109288029	109288029	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.818000	0.86416	2.536000	0.85505	0.462000	0.41574	.	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-2.787513	1	0.170000	NM_004235	Intron		65	65		266	263	1		1	1		0	0	70	0		1	7.559447e-01	0	13	0	0	0	65	266
KLF4	9314	broad.mit.edu	37	9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	258	Pro-rich.				cellular response to cycloheximide (GO:0071409)|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 peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|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 ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687																																						ENST00000374672.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999536	0.990000	1.000000																										0				16						c.(772-774)aGc>aAc		Kruppel-like factor 4 (gut)							11.0	13.0	12.0					9																	110249902		2143	4186	6329	SO:0001583	missense	9314	0	0					g.chr9:110249902C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.773G>A	chr9.hg19:g.110249902C>T	ENSP00000363804:p.Ser258Asn	0						p.S258N	NM_004235.4	NP_004226.3	0	0	0	1.938587	O43474	KLF4_HUMAN		3	1246	-			B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	1	1	hg19	c.773G>A	CCDS6770.2	1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090335	0.36855	.	.	ENSG00000136826	ENST00000374672	T	0.05580	3.42	4.68	4.68	0.58851	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000155	T	0.04137	0.0115	N	0.19112	0.55	0.22435	N	0.999108	P;P	0.47302	0.808;0.893	B;B	0.33960	0.173;0.16	T	0.43081	-0.9413	10	0.40728	T	0.16	.	13.8346	0.63402	0.0:0.8459:0.1541:0.0	.	258;258	O43474;O43474-1	KLF4_HUMAN;.	N	258	ENSP00000363804:S258N	ENSP00000363804:S258N	S	-	2	0	0	KLF4	109289723	109289723	0.028000	0.19301	0.997000	0.53966	0.885000	0.51271	0.139000	0.16036	2.155000	0.67459	0.655000	0.94253	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	1	0	1		2	2	2	0		0	0	22		22	16	1	2.060000	-20.000000	1	0.170000	NM_004235			24	19		127	108	0		1	1		0	0	22	0		9.999987e-01	9.427620e-01	0	18	0	10	0	24	127
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	383						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.G383G(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						GGATGGAACCGCCGGTCCACA	0.657																																						ENST00000374667.3	1.000000	0.960000	1	9.900000e-01	0.990000	0.997856	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G383G(1)	prostate(1)	20						c.(1147-1149)ggC>ggT		actin-like 7B							36.0	44.0	42.0					9																	111617062		2201	4297	6498	SO:0001819	synonymous_variant	10880	0	0					g.chr9:111617062G>A	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.1149C>T	chr9.hg19:g.111617062G>A		0						p.G383G	NM_006686.3	NP_006677.1	0	0	0	1.938587	Q9Y614	ACL7B_HUMAN		1	2177	-			B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	1	1	hg19	c.1149C>T	CCDS6771.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_006686			55	54		442	434	1		1			0	0	99	0		1	0	0	0	0	0	0	55	442
ACTL7A	10881	broad.mit.edu	37	9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	179						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(535-537)aAc>aCc		actin-like 7A							111.0	109.0	110.0					9																	111625138		2203	4300	6503	SO:0001583	missense	10881	0	0					g.chr9:111625138A>C	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.536A>C	chr9.hg19:g.111625138A>C	ENSP00000334300:p.Asn179Thr	0						p.N179T	NM_006687.2	NP_006678.1	0	0	0	1.938587	Q9Y615	ACL7A_HUMAN		1	536	+			B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	1	1	hg19	c.536A>C	CCDS6772.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301479	0.81136	.	.	ENSG00000187003	ENST00000333999	D	0.97378	-4.36	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000102	D	0.98520	0.9506	M	0.87038	2.855	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.99548	1.0965	10	0.87932	D	0	.	14.4302	0.67243	1.0:0.0:0.0:0.0	.	179	Q9Y615	ACL7A_HUMAN	T	179	ENSP00000334300:N179T	ENSP00000334300:N179T	N	+	2	0	0	ACTL7A	110664959	110664959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.288000	0.76882	0.528000	0.53228	AAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	1	0	1		2	2	2	0		0	0	92		92	83	1	2.060000	-20.000000	1	0.170000	NM_006687			77	70		366	346	1		1			0	0	92	0		1	0	0	0	0	0	0	77	366
IKBKAP	8518	broad.mit.edu	37	9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1007					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527																																						ENST00000374647.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3019-3021)Ctc>Ttc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							75.0	68.0	71.0					9																	111653624		2203	4300	6503	SO:0001583	missense	8518	0	0					g.chr9:111653624G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3019C>T	chr9.hg19:g.111653624G>A	ENSP00000363779:p.Leu1007Phe	0					IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F|IKBKAP_ENST00000467959.1_5'Flank	p.L1007F	NM_003640.3	NP_003631.2	0	0	0	1.938587	O95163	ELP1_HUMAN		28	3326	-			Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	1	1	hg19	c.3019C>T	CCDS6773.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191802	0.78902	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.33865	1.79;1.39	5.87	4.96	0.65561	5.87	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.52901	0.1763	M	0.63428	1.95	0.47659	D	0.999484	D	0.89917	1.0	D	0.79784	0.993	T	0.50189	-0.8857	10	0.49607	T	0.09	-14.8029	9.4432	0.38681	0.1607:0.0:0.8393:0.0	.	1007	O95163	ELP1_HUMAN	F	1007;658	ENSP00000363779:L1007F;ENSP00000439367:L658F	ENSP00000363779:L1007F	L	-	1	0	0	IKBKAP	110693445	110693445	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	3.297000	0.51810	2.779000	0.95612	0.591000	0.81541	CTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000				64	62		322	318	1		1	1		0	0	71	0		1	9.992386e-01	0	21	0	35	0	64	322
IKBKAP	8518	broad.mit.edu	37	9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	168					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398																																						ENST00000374647.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(502-504)aCa>aTa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							211.0	185.0	194.0					9																	111685171		2203	4300	6503	SO:0001583	missense	8518	0	0					g.chr9:111685171G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.503C>T	chr9.hg19:g.111685171G>A	ENSP00000363779:p.Thr168Ile	0					IKBKAP_ENST00000537196.1_Intron	p.T168I	NM_003640.3	NP_003631.2	0	0	0	1.938587	O95163	ELP1_HUMAN		6	810	-			Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	1	1	hg19	c.503C>T	CCDS6773.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761755	0.89932	.	.	ENSG00000070061	ENST00000374647	T	0.55930	0.49	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85921	0.1446	10	0.87932	D	0	-12.1967	17.1551	0.86790	0.0:0.0:1.0:0.0	.	168	O95163	ELP1_HUMAN	I	168	ENSP00000363779:T168I	ENSP00000363779:T168I	T	-	2	0	0	IKBKAP	110724992	110724992	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.088000	0.94132	2.639000	0.89480	0.650000	0.86243	ACA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-20.000000	1	0.170000				112	110		454	447	1		1	1		0	0	104	0		1	9.999956e-01	0	34	0	39	0	112	454
CTNNAL1	8727	broad.mit.edu	37	9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000325551.4	-	17	2038	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D651G|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	651					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)			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)		AAGCTTGTCATCGTCTTTCAG	0.353																																						ENST00000325551.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				25						c.(1951-1953)gAt>gGt		catenin (cadherin-associated protein), alpha-like 1							133.0	132.0	132.0					9																	111706086		2203	4300	6503	SO:0001583	missense	8727	0	0					g.chr9:111706086T>C	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.1952A>G	chr9.hg19:g.111706086T>C	ENSP00000320434:p.Asp651Gly	0					CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D651G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G	p.D651G	NM_003798.2	NP_003789.1	0	0	0	1.938587	Q9UBT7	CTNL1_HUMAN		17	2038	-			B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	1	1	hg19	c.1952A>G	CCDS6775.1	1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608757	0.46527	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.144107	0.64402	D	0.000007	T	0.65995	0.2745	M	0.64997	1.995	0.26154	N	0.980095	D;D;B;D	0.89917	1.0;0.961;0.002;0.961	D;P;B;P	0.87578	0.998;0.721;0.009;0.721	T	0.58808	-0.7571	10	0.11485	T	0.65	-21.7967	13.6804	0.62481	0.0:0.0:0.0:1.0	.	567;651;651;651	Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	G	651;651;567;52	ENSP00000363723:D651G;ENSP00000320434:D651G;ENSP00000323351:D567G;ENSP00000363722:D52G	ENSP00000320434:D651G	D	-	2	0	0	CTNNAL1	110745907	110745907	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_003798			57	57		321	315	1		1	1		0	0	74	0		1	9.999997e-01	0	41	0	85	0	57	321
CTNNAL1	8727	broad.mit.edu	37	9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000325551.4	-	2	274	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	63					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)			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)		TTGCAGAGTTTTATCAGACTT	0.333																																						ENST00000325551.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(187-189)aAa>aCa		catenin (cadherin-associated protein), alpha-like 1							146.0	153.0	151.0					9																	111761490		2203	4300	6503	SO:0001583	missense	8727	0	0					g.chr9:111761490T>G	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.188A>C	chr9.hg19:g.111761490T>G	ENSP00000320434:p.Lys63Thr	0					CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T	p.K63T	NM_003798.2	NP_003789.1	0	0	0	1.938587	Q9UBT7	CTNL1_HUMAN		2	274	-			B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	1	1	hg19	c.188A>C	CCDS6775.1	1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848949	0.71603	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.106328	0.64402	D	0.000006	T	0.61324	0.2338	M	0.72894	2.215	0.49798	D	0.999823	D;P;D	0.69078	0.997;0.941;0.997	D;P;D	0.65874	0.939;0.818;0.939	T	0.60757	-0.7200	10	0.38643	T	0.18	-23.9731	14.336	0.66589	0.0:0.0:0.0:1.0	.	63;63;63	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	63	ENSP00000363723:K63T;ENSP00000320434:K63T;ENSP00000323351:K63T;ENSP00000363721:K63T	ENSP00000320434:K63T	K	-	2	0	0	CTNNAL1	110801311	110801311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	2.258000	0.74832	0.533000	0.62120	AAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	1	0	1		2	2	2	0		0	0	163		163	162	1	2.060000	-20.000000	1	0.170000	NM_003798			124	123		655	648	1		1	1		0	0	163	0		1	9.983851e-01	0	17	0	35	0	124	655
EPB41L4B	54566	broad.mit.edu	37	9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	885					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448																																						ENST00000374566.3	1.000000	0.380000	8.800000e-01	5.200000e-01	0.680000	0.700907	0.680000	1.000000																										0				39						c.(2653-2655)Gaa>Taa		erythrocyte membrane protein band 4.1 like 4B							115.0	118.0	117.0					9																	111936884		1958	4145	6103	SO:0001587	stop_gained	54566	0	0					g.chr9:111936884C>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2653G>T	chr9.hg19:g.111936884C>A	ENSP00000363694:p.Glu885*	0						p.E885*	NM_019114.3	NP_061987.3	0	0	0	1.938587	Q9H329	E41LB_HUMAN		26	3170	-			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Nonsense_Mutation	SNP	ENST00000374566.3	0	1	hg19	c.2653G>T	CCDS43859.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.425980|10.425980	0.99403|0.99403	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.419856	.|0.17679	.|N	.|0.165710	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76462	.|-0.2950	.|6	0.87932|0.49607	D|T	0|0.09	.|.	19.215|19.215	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	885|569	.|.	ENSP00000363694:E885X|ENSP00000262536:G569V	E|G	-|-	1|2	0|0	0|0	EPB41L4B|EPB41L4B	110976705|110976705	110976705|110976705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GAA|GGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-5.483464	1	0.170000	NM_018424			13	13		205	203	0		1			0	0	33	0		9.995556e-01	0	0	0	0	0	0	13	205
EPB41L4B	54566	broad.mit.edu	37	9	111938926	111938926	+	Silent	SNP	C	C	T	rs10979729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111938926C>T	ENST00000374566.3	-	25	3055	c.2538G>A	c.(2536-2538)ccG>ccA	p.P846P		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	846					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGGATCAGCGGGGAAGTCG	0.527													C|||	372	0.0742812	0.0076	0.1643	5008	,	,		19661	0.1052		0.0606	False		,,,				2504	0.0828					ENST00000374566.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999679	0.990000	1.000000																										0				39						c.(2536-2538)ccG>ccA		erythrocyte membrane protein band 4.1 like 4B		C		66,3834		0,66,1884	67.0	71.0	70.0		2538	-6.5	0.7	9	dbSNP_120	70	438,7856		8,422,3717	no	coding-synonymous	EPB41L4B	NM_019114.3		8,488,5601	TT,TC,CC		5.2809,1.6923,4.1332		846/901	111938926	504,11690	1950	4147	6097	SO:0001819	synonymous_variant	54566	8768	120870	70				g.chr9:111938926C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2538G>A	chr9.hg19:g.111938926C>T		0						p.P846P	NM_019114.3	NP_061987.3	0	0	0	1.938587	Q9H329	E41LB_HUMAN		25	3055	-			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	1	0	hg19	c.2538G>A	CCDS43859.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	0	1		2	2	2	0		0	0	56		56	52	1	2.060000	-2.739061	1	0.170000	NM_018424			40	40		261	258	1		1			0	0	56	0		1	0	0	0	0	0	0	40	261
EPB41L4B	54566	broad.mit.edu	37	9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	719					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632																																						ENST00000374566.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2155-2157)cCc>cAc		erythrocyte membrane protein band 4.1 like 4B							122.0	139.0	134.0					9																	111956567		2028	4186	6214	SO:0001583	missense	54566	0	0					g.chr9:111956567G>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2156C>A	chr9.hg19:g.111956567G>T	ENSP00000363694:p.Pro719His	0					RNU6-984P_ENST00000363236.1_RNA	p.P719H	NM_019114.3	NP_061987.3	0	0	0	1.938587	Q9H329	E41LB_HUMAN		21	2673	-			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	1	1	hg19	c.2156C>A	CCDS43859.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511193	0.64522	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.92965	-3.14	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.37669	N	0.001986	D	0.94716	0.8295	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94895	0.8051	10	0.72032	D	0.01	.	14.8772	0.70504	0.0:0.0:1.0:0.0	.	719	Q9H329	E41LB_HUMAN	H	404;719	ENSP00000363694:P719H	ENSP00000262536:P404H	P	-	2	0	0	EPB41L4B	110996388	110996388	1.000000	0.71417	0.678000	0.29963	0.532000	0.34746	5.211000	0.65219	2.582000	0.87167	0.655000	0.94253	CCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	0	1		19	2	2	1		1	1	97		97	97	1	2.060000	-3.268914	1	0.170000	NM_018424			116	115		434	430	1		1			1	0	97	0		1	0	0	0	0	0	0	116	434
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T	rs377599387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522																																						ENST00000374566.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1105-1107)acG>acA		erythrocyte membrane protein band 4.1 like 4B		C	,	2,3888		0,2,1943	120.0	112.0	115.0		1107,1107	-4.4	0.0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC		0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant	54566	2	120870	35				g.chr9:112017853C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	chr9.hg19:g.112017853C>T		0					EPB41L4B_ENST00000374557.4_Silent_p.T369T	p.T369T	NM_019114.3	NP_061987.3	0	0	0	1.938587	Q9H329	E41LB_HUMAN		11	1624	-			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	1	1	hg19	c.1107G>A	CCDS43859.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_018424			80	80		341	338	1		1	1		0	0	94	0		1	9.951316e-01	0	6	0	31	0	80	341
PTPN3	5774	broad.mit.edu	37	9	112166806	112166806	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112166806C>A	ENST00000374541.2	-	19	1979	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E494D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	625					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTCCCCACCCTCCGGACACA	0.532																																						ENST00000374541.2	0.420000	0.100000	3.300000e-01	1.500000e-01	0.220000	0.245038	0.220000	0.210000																										0				41						c.(1873-1875)gaG>gaT		protein tyrosine phosphatase, non-receptor type 3							114.0	103.0	107.0					9																	112166806		2203	4300	6503	SO:0001583	missense	5774	0	0					g.chr9:112166806C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1875G>T	chr9.hg19:g.112166806C>A	ENSP00000363667:p.Glu625Asp	0					PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E494D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D	p.E625D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	0	0	0	1.938587	P26045	PTN3_HUMAN		19	1979	-			A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	0	1	hg19	c.1875G>T	CCDS6776.1	0	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953877	0.34471	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.71817	-0.46;-0.45;-0.6;3.93;-0.39	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.339106	0.34411	N	0.003999	T	0.54854	0.1884	L	0.38175	1.15	0.37573	D	0.919522	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.51880	-0.8649	10	0.12103	T	0.63	.	7.6876	0.28548	0.0:0.8061:0.0:0.1939	.	471;580;625	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	D	625;494;449;625;93;471	ENSP00000416654:E494D;ENSP00000395384:E449D;ENSP00000363667:E625D;ENSP00000378304:E93D;ENSP00000262539:E471D	ENSP00000262539:E471D	E	-	3	2	2	PTPN3	111206627	111206627	0.887000	0.30362	1.000000	0.80357	0.940000	0.58332	0.688000	0.25422	2.815000	0.96918	0.561000	0.74099	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4	0	0	0		2	2	2	0		0	0	113		113	112	1	2.060000	-2.902849	1	0.170000				7	7		358	353	0		1	1		0	0	113	0		9.798792e-01	5.890976e-01	0	5	0	91	0	7	358
PTPN3	5774	broad.mit.edu	37	9	112216845	112216845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	ENST00000374541.2	-	5	403	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGGTACAGGGGAAACCTCC	0.333																																						ENST00000374541.2	0.600000	0.240000	5.000000e-01	3.100000e-01	0.400000	0.413801	0.400000	0.400000																										0				41						c.(298-300)cCc>cTc		protein tyrosine phosphatase, non-receptor type 3							114.0	119.0	118.0					9																	112216845		2203	4300	6503	SO:0001583	missense	5774	0	0					g.chr9:112216845G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.299C>T	chr9.hg19:g.112216845G>A	ENSP00000363667:p.Pro100Leu	0					PTPN3_ENST00000262539.3_Intron	p.P100L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	0	0	0	1.938587	P26045	PTN3_HUMAN		5	403	-			A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	1	1	hg19	c.299C>T	CCDS6776.1	0	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551656	0.86127	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.78595	-1.19	5.67	5.67	0.87782	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.91510	3.215	0.80722	D	1	P;D	0.76494	0.775;0.999	P;D	0.77557	0.665;0.99	D	0.92260	0.5816	10	0.72032	D	0.01	.	19.3642	0.94454	0.0:0.0:1.0:0.0	.	100;100	B7Z9V1;P26045	.;PTN3_HUMAN	L	100	ENSP00000363667:P100L	ENSP00000363667:P100L	P	-	2	0	0	PTPN3	111256666	111256666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.689000	0.91719	0.462000	0.41574	CCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4	0	0	1		2	2	2	0		0	0	110		110	110	1	2.060000	-2.273849	0	0.170000				17	16		472	462	0		1	1		0	0	110	0		9.999583e-01	6.498243e-01	0	6	0	56	0	17	472
PALM2	114299	broad.mit.edu	37	9	112705591	112705591	+	Silent	SNP	G	G	A	rs369583696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000374531.2	+	7	1100	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000448454.2_Silent_p.P376P|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2_ENST00000314527.4_Silent_p.P374P|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	342					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGGGAGGCCGGTCTCAGACA	0.547																																						ENST00000374531.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1024-1026)ccG>ccA		paralemmin 2		G	,,,	0,4406		0,0,2203	120.0	118.0	118.0		1026,,1122,	-11.7	0.0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,intron	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	342/380,,374/412,	112705591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114299	11	121412	44				g.chr9:112705591G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1026G>A	chr9.hg19:g.112705591G>A		0					PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.P376P|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	p.P342P	NM_001037293.2	NP_001032370.1	0	0	0	1.938587	Q8IXS6	PALM2_HUMAN		7	1100	+			A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	1	1	hg19	c.1026G>A	CCDS35099.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	0	0	1		21	2	2	1		1	1	83		83	82	1	2.060000	-2.852489	1	0.170000	NM_001037293			93	89		465	456	1		1	0		1	0	83	0		1	8.252187e-01	0	0	0	18	0	93	465
AKAP2	11217	broad.mit.edu	37	9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000259318.7	+	2	399	c.192C>A	c.(190-192)tgC>tgA	p.C64*	PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.C295*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	64										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGCCAACTGCTGTGATTCTG	0.562																																						ENST00000259318.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(190-192)tgC>tgA		A kinase (PRKA) anchor protein 2							157.0	125.0	136.0					9																	112898709		2203	4300	6503	SO:0001587	stop_gained	11217	0	0					g.chr9:112898709C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.192C>A	chr9.hg19:g.112898709C>A	ENSP00000259318:p.Cys64*	0					PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	p.C64*	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	399	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	0	1	hg19	c.192C>A	CCDS48003.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.090318	0.97271	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	4.33	0.51752	6.17	4.33	0.51752	.	0.149906	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.09	9.7747	0.40612	0.0:0.7342:0.0:0.2658	.	.	.	.	X	295;295;295;295;153;153;113;64	.	ENSP00000259318:C64X	C	+	3	2	2	PALM2-AKAP2;AKAP2	111938530	111938530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.780000	0.26760	1.633000	0.50488	0.655000	0.94253	TGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_001004065			89	87		472	468	0		1	1		0	0	111	0		1	1	0	11	0	125	0	89	472
AKAP2	11217	broad.mit.edu	37	9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000259318.7	+	2	736	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A408T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	177										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAAAAGGAGGCCAAGTTTGA	0.532																																						ENST00000259318.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(529-531)Gcc>Acc		A kinase (PRKA) anchor protein 2							85.0	79.0	81.0					9																	112899046		2203	4300	6503	SO:0001583	missense	11217	0	0					g.chr9:112899046G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.529G>A	chr9.hg19:g.112899046G>A	ENSP00000259318:p.Ala177Thr	0					PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	p.A177T	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	736	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	1	1	hg19	c.529G>A	CCDS48003.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907713	0.92107	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	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	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.70275	2.135	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	0.998;0.999;0.996;0.999;0.997;0.998;0.998;0.996	T	0.68969	-0.5269	10	0.59425	D	0.04	-28.0429	19.8676	0.96824	0.0:0.0:1.0:0.0	.	177;266;260;266;267;408;408;226	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	408;408;408;408;266;266;226;177	ENSP00000363654:A408T;ENSP00000305861:A408T;ENSP00000451476:A408T;ENSP00000421522:A408T;ENSP00000404782:A266T;ENSP00000363649:A266T;ENSP00000419268:A226T;ENSP00000259318:A177T	ENSP00000259318:A177T	A	+	1	0	0	PALM2-AKAP2;AKAP2	111938867	111938867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_001004065			57	55		234	227	0		1	1		0	0	63	0		1	9.999999e-01	0	6	0	97	0	57	234
AKAP2	11217	broad.mit.edu	37	9	112899457	112899457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899457G>A	ENST00000259318.7	+	2	1147	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E545K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	314										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAAAGCAAAGGAGGACATTGT	0.542																																						ENST00000259318.7	0.840000	0.160000	6.300000e-01	2.700000e-01	0.420000	0.458709	0.420000	0.400000																										0				33						c.(940-942)Gag>Aag		A kinase (PRKA) anchor protein 2							24.0	21.0	22.0					9																	112899457		2196	4284	6480	SO:0001583	missense	11217	0	0					g.chr9:112899457G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.940G>A	chr9.hg19:g.112899457G>A	ENSP00000259318:p.Glu314Lys	0					PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E545K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	p.E314K	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	1147	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	0	1	hg19	c.940G>A	CCDS48003.1	0	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218387	0.39201	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	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	5.43	4.53	0.55603	5.43	4.53	0.55603	.	0.102279	0.64402	N	0.000004	T	0.48874	0.1524	L	0.51422	1.61	0.45567	D	0.998519	B;B;B;B;B;B;B;B	0.24043	0.008;0.003;0.007;0.015;0.008;0.096;0.096;0.004	B;B;B;B;B;B;B;B	0.29524	0.007;0.009;0.004;0.012;0.005;0.103;0.062;0.004	T	0.51834	-0.8655	10	0.59425	D	0.04	-20.5912	12.6927	0.56985	0.0784:0.0:0.9216:0.0	.	314;403;397;403;404;545;545;363	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	545;545;545;545;403;403;363;314	ENSP00000363654:E545K;ENSP00000305861:E545K;ENSP00000451476:E545K;ENSP00000421522:E545K;ENSP00000404782:E403K;ENSP00000363649:E403K;ENSP00000419268:E363K;ENSP00000259318:E314K	ENSP00000259318:E314K	E	+	1	0	0	PALM2-AKAP2;AKAP2	111939278	111939278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.894000	0.48640	2.546000	0.85860	0.655000	0.94253	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-7.936831	1	0.170000	NM_001004065			5	5		136	134	0		1	1		0	0	23	0		9.363283e-01	9.098263e-01	0	2	0	119	0	5	136
AKAP2	11217	broad.mit.edu	37	9	112899987	112899987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899987C>T	ENST00000259318.7	+	2	1677	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T|AKAP2_ENST00000434623.2_Silent_p.T579T|AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|PALM2-AKAP2_ENST00000374530.3_Silent_p.T721T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	490										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTGGAGACCCTATCCAATG	0.493																																						ENST00000259318.7	0.360000	0.090000	2.800000e-01	1.400000e-01	0.200000	0.218462	0.200000	0.200000																										0				33						c.(1468-1470)acC>acT		A kinase (PRKA) anchor protein 2							92.0	91.0	92.0					9																	112899987		2203	4300	6503	SO:0001819	synonymous_variant	11217	0	0					g.chr9:112899987C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1470C>T	chr9.hg19:g.112899987C>T		0					PALM2-AKAP2_ENST00000374530.3_Silent_p.T721T|AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000434623.2_Silent_p.T579T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	p.T490T	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	1677	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	0	1	hg19	c.1470C>T	CCDS48003.1	0																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-2.542560	1	0.170000	NM_001004065			9	10		506	502	0		1	0		0	0	124	0		9.941412e-01	7.082818e-01	0	0	0	137	0	9	506
AKAP2	11217	broad.mit.edu	37	9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000259318.7	+	2	1916	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A801D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	570	PKA-RII subunit binding domain.									breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGTATCAGGCTGGCCTCCTG	0.542																																						ENST00000259318.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999982	0.990000	1.000000																										0				33						c.(1708-1710)gCt>gAt		A kinase (PRKA) anchor protein 2							39.0	39.0	39.0					9																	112900226		2203	4300	6503	SO:0001583	missense	11217	0	0					g.chr9:112900226C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1709C>A	chr9.hg19:g.112900226C>A	ENSP00000259318:p.Ala570Asp	0					PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	p.A570D	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	1916	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	1	1	hg19	c.1709C>A	CCDS48003.1	1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912078	0.72983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58940	1.63;1.65;1.63;1.65;0.87;0.32;0.3;0.94	5.95	5.95	0.96441	5.95	5.95	0.96441	RII binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.998;0.998;0.997	T	0.77747	-0.2472	10	0.87932	D	0	-20.6001	19.3768	0.94514	0.0:1.0:0.0:0.0	.	570;659;653;659;660;801;801;619	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	801;801;801;801;659;659;619;570	ENSP00000363654:A801D;ENSP00000305861:A801D;ENSP00000451476:A801D;ENSP00000421522:A801D;ENSP00000404782:A659D;ENSP00000363649:A659D;ENSP00000419268:A619D;ENSP00000259318:A570D	ENSP00000259318:A570D	A	+	2	0	0	PALM2-AKAP2;AKAP2	111940047	111940047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.121000	0.77160	2.810000	0.96702	0.650000	0.86243	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_001004065			33	33		151	150	0		1	1		0	0	44	0		1	1	0	7	0	141	0	33	151
AKAP2	11217	broad.mit.edu	37	9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000259318.7	+	2	2393	c.2186C>A	c.(2185-2187)gCt>gAt	p.A729D	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A960D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	729										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATCCGAGCAGCTCAGGAAAGG	0.542																																						ENST00000259318.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998358	0.990000	1.000000																										0				33						c.(2185-2187)gCt>gAt		A kinase (PRKA) anchor protein 2							83.0	77.0	79.0					9																	112900703		2203	4300	6503	SO:0001583	missense	11217	0	0					g.chr9:112900703C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2186C>A	chr9.hg19:g.112900703C>A	ENSP00000259318:p.Ala729Asp	0					PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|AKAP2_ENST00000482335.1_3'UTR	p.A729D	NM_001136562.2	NP_001130034.1	0	0	0	1.938587	Q9Y2D5	AKAP2_HUMAN		2	2393	+			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	1	1	hg19	c.2186C>A	CCDS48003.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498748	0.85069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.67865	1.5;1.5;1.5;1.5;1.5;1.5;-0.29;1.5	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.65498	2.005	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	0.998;0.999;0.998;0.999;0.998;0.999;0.999;0.998	T	0.77094	-0.2715	10	0.33141	T	0.24	-27.8397	19.2867	0.94077	0.0:1.0:0.0:0.0	.	729;818;812;818;819;960;960;778	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	960;960;960;960;818;818;778;729	ENSP00000363654:A960D;ENSP00000305861:A960D;ENSP00000451476:A960D;ENSP00000421522:A960D;ENSP00000404782:A818D;ENSP00000363649:A818D;ENSP00000419268:A778D;ENSP00000259318:A729D	ENSP00000259318:A729D	A	+	2	0	0	PALM2-AKAP2;AKAP2	111940524	111940524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.793000	0.96121	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_001004065			38	39		277	271	0		1	1		0	0	75	0		1	1	0	14	0	198	0	38	277
C9orf152	401546	broad.mit.edu	37	9	112963456	112963456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507																																						ENST00000400613.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(490-492)caG>caA		chromosome 9 open reading frame 152							204.0	187.0	193.0					9																	112963456		2203	4300	6503	SO:0001819	synonymous_variant	401546	0	0					g.chr9:112963456C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.492G>A	chr9.hg19:g.112963456C>T		0					C9orf152_ENST00000473442.1_Intron	p.Q164Q	NM_001012993.2	NP_001013011.2	0	0	0	1.938587	Q5JTZ5	CI152_HUMAN		2	1101	-			A8MWT6	Silent	SNP	ENST00000400613.4	1	1	hg19	c.492G>A	CCDS35102.2	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	1	0	1		2	2	2	0		0	0	163		163	161	1	2.060000	-20.000000	1	0.170000	NM_001012993			138	136		758	743	0		1	0		0	0	163	0		1	3.572803e-01	0	1	0	7	0	138	758
TXN	7295	broad.mit.edu	37	9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000374515.5_Missense_Mutation_p.A79S|TXN_ENST00000487892.1_5'UTR	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	99	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289																																						ENST00000374517.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(295-297)Gcc>Tcc		thioredoxin							36.0	34.0	35.0					9																	113006460		2202	4295	6497	SO:0001583	missense	7295	0	0					g.chr9:113006460C>A	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.295G>T	chr9.hg19:g.113006460C>A	ENSP00000363641:p.Ala99Ser	0					TXN_ENST00000374515.5_Missense_Mutation_p.A79S|TXN_ENST00000487892.1_5'UTR	p.A99S	NM_003329.3	NP_003320.2	0	0	0	1.938587	P10599	THIO_HUMAN		5	499	-			B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	1	1	hg19	c.295G>T	CCDS35103.1	1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381254	0.24944	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22336	3.95;1.96	5.45	3.39	0.38822	5.45	3.39	0.38822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.216640	0.36519	N	0.002548	T	0.14830	0.0358	N	0.25825	0.765	0.29885	N	0.825726	B;B	0.17667	0.023;0.023	B;B	0.27796	0.083;0.051	T	0.16129	-1.0413	10	0.16420	T	0.52	-2.3374	11.7284	0.51722	0.3316:0.6684:0.0:0.0	.	79;99	B1ALW1;P10599	.;THIO_HUMAN	S	99;79	ENSP00000363641:A99S;ENSP00000363639:A79S	ENSP00000363639:A79S	A	-	1	0	0	TXN	112046281	112046281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	1.266000	0.44231	0.655000	0.94253	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-20.000000	1	0.170000				35	35		102	102	1		1	1		0	0	34	0		1	1	0	665	0	1645	0	35	102
SVEP1	79987	broad.mit.edu	37	9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000401783.2	-	39	9814	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3160	Sushi 29. {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)			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						CAGGTGAATGTATCTGTATCT	0.393																																						ENST00000401783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(9478-9480)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							252.0	242.0	245.0					9																	113166795		1888	4116	6004	SO:0001583	missense	79987	0	0					g.chr9:113166795T>C	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.9478A>G	chr9.hg19:g.113166795T>C	ENSP00000384917:p.Thr3160Ala	0					SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A	p.T3160A	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		39	9814	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.9478A>G	CCDS48004.1	1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916568	0.52546	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65916	-0.18;-0.18;-0.18	5.76	5.76	0.90799	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.294359	0.38217	N	0.001779	T	0.63153	0.2487	M	0.73372	2.23	0.80722	D	1	P	0.44429	0.835	P	0.45071	0.468	T	0.61729	-0.7003	10	0.22706	T	0.39	.	10.7126	0.45993	0.0:0.0798:0.0:0.9202	.	3160	Q4LDE5	SVEP1_HUMAN	A	3160;3137;1086	ENSP00000384917:T3160A;ENSP00000363593:T3137A;ENSP00000297826:T1086A	ENSP00000297826:T1086A	T	-	1	0	0	SVEP1	112206616	112206616	0.989000	0.36119	0.992000	0.48379	0.603000	0.37013	1.670000	0.37502	2.200000	0.70718	0.482000	0.46254	ACA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	222		222	220	1	2.060000	-20.000000	1	0.170000				188	184		771	755	1		1	0		0	0	222	0		1	9.999993e-01	0	0	0	82	0	188	771
SVEP1	79987	broad.mit.edu	37	9	113170918	113170918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113170918G>A	ENST00000401783.2	-	38	7298	c.6962C>T	c.(6961-6963)gCc>gTc	p.A2321V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V|SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2321	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)			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						TGGGCACTTGGCAGGCATGCA	0.453																																						ENST00000401783.2	0.750000	0.260000	6.200000e-01	3.600000e-01	0.470000	0.495129	0.470000	0.460000																										0				147						c.(6961-6963)gCc>gTc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56.0	57.0	56.0					9																	113170918		1907	4129	6036	SO:0001583	missense	79987	0	0					g.chr9:113170918G>A	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.6962C>T	chr9.hg19:g.113170918G>A	ENSP00000384917:p.Ala2321Val	0					SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V|SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V	p.A2321V	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		38	7298	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.6962C>T	CCDS48004.1	0	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461962	0.04508	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.21734	1.99;1.99;1.99	5.8	4.88	0.63580	5.8	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (1);	0.596150	0.19254	N	0.118854	T	0.06371	0.0164	N	0.00855	-1.145	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22312	-1.0220	10	0.02654	T	1	.	14.0439	0.64693	0.075:0.0:0.925:0.0	.	2321	Q4LDE5	SVEP1_HUMAN	V	2321;2298;247	ENSP00000384917:A2321V;ENSP00000363593:A2298V;ENSP00000297826:A247V	ENSP00000297826:A247V	A	-	2	0	0	SVEP1	112210739	112210739	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	5.247000	0.65416	1.395000	0.46643	0.655000	0.94253	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-14.100080	1	0.170000				13	13		302	293	0		1	0		0	0	69	0		9.994688e-01	5.439252e-01	0	0	0	42	0	13	302
SVEP1	79987	broad.mit.edu	37	9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000401783.2	-	37	6463	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2043	Sushi 11. {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)			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						TAGTAGAATGCAATGTCTCCA	0.552																																						ENST00000401783.2	1.000000	0.890000	1	9.900000e-01	0.990000	0.993933	0.990000	1.000000																										0				147						c.(6127-6129)Gca>Aca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							46.0	48.0	47.0					9																	113173864		1964	4147	6111	SO:0001583	missense	79987	0	0					g.chr9:113173864C>T	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.6127G>A	chr9.hg19:g.113173864C>T	ENSP00000384917:p.Ala2043Thr	0					SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T|SVEP1_ENST00000297826.5_5'UTR	p.A2043T	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		37	6463	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.6127G>A	CCDS48004.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701688	0.88924	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.98	5.98	0.97165	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73678	-0.3907	10	0.20519	T	0.43	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	2043	Q4LDE5	SVEP1_HUMAN	T	2043;2020	ENSP00000384917:A2043T;ENSP00000363593:A2020T	ENSP00000363593:A2020T	A	-	1	0	0	SVEP1	112213685	112213685	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.816000	0.69222	2.847000	0.97988	0.591000	0.81541	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000				18	18		119	119	1		1	0		0	0	29	0		9.999882e-01	9.661028e-01	0	0	0	40	0	18	119
SVEP1	79987	broad.mit.edu	37	9	113194818	113194818	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000401783.2	-	31	5493	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G	SVEP1_ENST00000374469.1_Silent_p.G1696G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1719	Sushi 6. {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)			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						ATAGATAGTAGCCATTGTTGC	0.493																																						ENST00000401783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(5155-5157)ggC>ggA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							143.0	140.0	141.0					9																	113194818		1964	4150	6114	SO:0001819	synonymous_variant	79987	0	0					g.chr9:113194818G>T	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.5157C>A	chr9.hg19:g.113194818G>T		0					SVEP1_ENST00000374469.1_Silent_p.G1696G	p.G1719G	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		31	5493	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	1	1	hg19	c.5157C>A	CCDS48004.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	123		123	122	1	2.060000	-20.000000	1	0.170000				96	96		428	420	1		1	0		0	0	123	0		1	9.956577e-01	0	0	0	39	0	96	428
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507																																						ENST00000401783.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998824	0.990000	1.000000																										0				147						c.(1063-1065)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72.0	71.0	71.0					9																	113276288		2004	4179	6183	SO:0001583	missense	79987	0	0					g.chr9:113276288T>C	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.1063A>G	chr9.hg19:g.113276288T>C	ENSP00000384917:p.Thr355Ala	0					SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A	p.T355A	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		4	1399	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.1063A>G	CCDS48004.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	0	SVEP1	112316109	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000				15	15		63	61	1		1	0		0	0	16	0		9.999117e-01	9.609150e-01	0	0	0	26	0	15	63
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A	rs368175556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000401783.2	-	2	970	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAATCTCGCAGTGACGCT	0.453																																						ENST00000401783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(634-636)Cga>Tga		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							145.0	141.0	142.0					9																	113312282		1941	4157	6098	SO:0001587	stop_gained	79987	0	0					g.chr9:113312282G>A	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.634C>T	chr9.hg19:g.113312282G>A	ENSP00000384917:p.Arg212*	0					SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*	p.R212*	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		2	970	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	0	1	hg19	c.634C>T	CCDS48004.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.528289	0.98850	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	-6.26E-4	0.14038	5.5	-6.26E-4	0.14038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5394	0.84381	0.0:0.0:0.4206:0.5794	.	.	.	.	X	212;189;212;189	.	ENSP00000304118:R212X	R	-	1	2	2	SVEP1	112352103	112352103	1.000000	0.71417	0.419000	0.26584	0.646000	0.38490	2.723000	0.47277	-0.197000	0.10350	0.563000	0.77884	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	97		97	95	1	2.060000	-20.000000	1	0.170000				111	106		373	367	1		1	0		0	0	97	0		1	9.909460e-01	0	0	0	27	0	111	373
SVEP1	79987	broad.mit.edu	37	9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000401783.2	-	2	931	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	199	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCCCATTGGAATATCCATCA	0.418																																						ENST00000401783.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				147						c.(595-597)Tcc>Ccc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							179.0	176.0	177.0					9																	113312321		1908	4128	6036	SO:0001583	missense	79987	0	0					g.chr9:113312321A>G	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.595T>C	chr9.hg19:g.113312321A>G	ENSP00000384917:p.Ser199Pro	0					SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P	p.S199P	NM_153366.3	NP_699197.3	0	0	0	1.938587	Q4LDE5	SVEP1_HUMAN		2	931	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.595T>C	CCDS48004.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615636	0.87359	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.5	5.5	0.81552	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.71920	2.185	0.46437	D	0.999046	D;D;D	0.89917	0.99;0.971;1.0	P;P;D	0.85130	0.855;0.9;0.997	D	0.92626	0.6112	10	0.87932	D	0	.	15.897	0.79341	1.0:0.0:0.0:0.0	.	199;199;199	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	199;176;199;176	ENSP00000384917:S199P;ENSP00000363593:S176P;ENSP00000304118:S199P;ENSP00000363585:S176P	ENSP00000304118:S199P	S	-	1	0	0	SVEP1	112352142	112352142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.209000	0.71365	0.460000	0.39030	TCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000				108	106		590	577	1		1	0		0	0	129	0		1	6.988211e-01	0	0	0	15	0	108	590
MUSK	4593	broad.mit.edu	37	9	113509922	113509922	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000374448.4	+	7	889	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000189978.5_Splice_Site_p.V252G|MUSK_ENST00000416899.2_Splice_Site_p.V252G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	252	Ig-like 3.				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)			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						CTCTGTCAGGTTTCTTCTGGG	0.403																																						ENST00000374448.4	0.680000	0.340000	6.000000e-01	4.200000e-01	0.500000	0.512292	0.500000	0.500000																										0				49						c.(754-756)gTt>gGt		muscle, skeletal, receptor tyrosine kinase							156.0	145.0	148.0					9																	113509922		1861	4116	5977	SO:0001630	splice_region_variant	4593	0	0					g.chr9:113509922T>G	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.754-1T>G	chr9.hg19:g.113509922T>G		0					MUSK_ENST00000416899.2_Splice_Site_p.V252G|MUSK_ENST00000189978.5_Splice_Site_p.V252G	p.V252G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	0	0	0	1.938587	O15146	MUSK_HUMAN		7	889	+			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Splice_Site	SNP	ENST00000374448.4	0	1	hg19	c.755T>G	CCDS48005.1	0	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565685	0.65651	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14144	2.53	5.78	4.63	0.57726	5.78	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171752	0.51477	N	0.000083	T	0.36744	0.0978	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.989	T	0.14504	-1.0470	10	0.87932	D	0	.	11.383	0.49768	0.0:0.0:0.1518:0.8482	.	252;262	O15146;F5H6T2	MUSK_HUMAN;.	G	252;252;252;262;262;252	ENSP00000363571:V252G	ENSP00000189978:V252G	V	+	2	0	0	MUSK	112549743	112549743	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.359000	0.52292	0.994000	0.38892	0.533000	0.62120	GTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-4.650252	1	0.170000		Missense_Mutation		32	32		696	690	0		1	0		0	0	142	0		1	0	0	0	0	1	0	32	696
MUSK	4593	broad.mit.edu	37	9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000374448.4	+	10	1481	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000416899.2_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	449	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)			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						CCTGTGCCAGACTGCCACATC	0.468																																						ENST00000374448.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1345-1347)agA>agC		muscle, skeletal, receptor tyrosine kinase							133.0	130.0	131.0					9																	113538230		1916	4130	6046	SO:0001583	missense	4593	0	0					g.chr9:113538230A>C	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.1347A>C	chr9.hg19:g.113538230A>C	ENSP00000363571:p.Arg449Ser	0					MUSK_ENST00000416899.2_Missense_Mutation_p.R449S|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P	p.R449S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	0	0	0	1.938587	O15146	MUSK_HUMAN		10	1481	+			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	1	1	hg19	c.1347A>C	CCDS48005.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.10|11.10	1.538820|1.538820	0.27475|0.27475	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.74315|0.81739	-0.83|-1.53	5.74|5.74	4.61|4.61	0.57282|0.57282	5.74|5.74	4.61|4.61	0.57282|0.57282	Frizzled domain (1);|.	0.323968|.	0.36740|.	N|.	0.002427|.	T|T	0.78432|0.78432	0.4282|0.4282	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.75969|0.75969	-0.3130|-0.3130	10|7	0.49607|0.46703	T|T	0.09|0.11	.|.	7.9543|7.9543	0.30033|0.30033	0.8412:0.0:0.1588:0.0|0.8412:0.0:0.1588:0.0	.|.	449|.	O15146|.	MUSK_HUMAN|.	S|P	455;449;449;371;371;455|41	ENSP00000363571:R449S|ENSP00000363561:T41P	ENSP00000189978:R455S|ENSP00000363561:T41P	R|T	+|+	3|1	2|0	2|0	MUSK|MUSK	112578051|112578051	112578051|112578051	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.534000|0.534000	0.34807|0.34807	1.197000|1.197000	0.32211|0.32211	1.009000|1.009000	0.39289|0.39289	0.459000|0.459000	0.35465|0.35465	AGA|ACT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0		2	2	2	1		1	0	161		161	159	1	2.060000	-20.000000	1	0.170000				115	112		576	565	1		1			1	0	161	0		1	0	0	0	0	0	0	115	576
MUSK	4593	broad.mit.edu	37	9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000374448.4	+	13	1786	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000416899.2_Missense_Mutation_p.N543S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	551					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)			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						CTTCATCCCAACCCCATGTAC	0.498																																						ENST00000374448.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1651-1653)aAc>aGc		muscle, skeletal, receptor tyrosine kinase							238.0	228.0	231.0					9																	113547872		1979	4164	6143	SO:0001583	missense	4593	0	0					g.chr9:113547872A>G	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.1652A>G	chr9.hg19:g.113547872A>G	ENSP00000363571:p.Asn551Ser	0					MUSK_ENST00000416899.2_Missense_Mutation_p.N543S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S	p.N551S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	0	0	0	1.938587	O15146	MUSK_HUMAN		13	1786	+			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	1	1	hg19	c.1652A>G	CCDS48005.1	1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659946	0.88154	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88431	-0.8;-2.38	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94182	0.7433	10	0.66056	D	0.02	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	551	O15146	MUSK_HUMAN	S	557;551;551;465;465;67;549;67	ENSP00000363571:N551S;ENSP00000363561:N67S	ENSP00000189978:N557S	N	+	2	0	0	MUSK	112587693	112587693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	2.241000	0.73720	0.533000	0.62120	AAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	255		255	251	1	2.060000	-20.000000	1	0.170000				122	119		758	744	1		1			0	0	255	0		1	0	0	0	0	0	0	122	758
LPAR1	1902	broad.mit.edu	37	9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(337-339)aCt>aTt		lysophosphatidic acid receptor 1							151.0	153.0	152.0					9																	113704156		2203	4300	6503	SO:0001583	missense	1902	0	0					g.chr9:113704156G>A	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.338C>T	chr9.hg19:g.113704156G>A	ENSP00000363553:p.Thr113Ile	0					LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I	p.T113I	NM_057159.2	NP_476500.1	0	0	0	1.938587	Q92633	LPAR1_HUMAN		4	721	-			B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	1	1	hg19	c.338C>T	CCDS6777.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474455	0.84640	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	5.53	0.82687	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	18.45	0.90700	0.0:0.0:1.0:0.0	.	114;114;113	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	113;114;113;113;95;114;113	ENSP00000363553:T113I;ENSP00000445697:T114I;ENSP00000363552:T113I;ENSP00000351755:T113I;ENSP00000440201:T114I;ENSP00000401810:T113I	ENSP00000351755:T113I	T	-	2	0	0	LPAR1	112743977	112743977	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	ACT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	0		2	2	2	0		0	0	188		188	187	1	2.060000	-20.000000	1	0.170000	NM_057159			128	127		677	663	1		1	0		0	0	188	0		1	9.975117e-01	0	0	0	49	0	128	677
LPAR1	1902	broad.mit.edu	37	9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	89					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(265-267)Gct>Act		lysophosphatidic acid receptor 1							99.0	107.0	104.0					9																	113704229		2203	4300	6503	SO:0001583	missense	1902	0	0					g.chr9:113704229C>T	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.265G>A	chr9.hg19:g.113704229C>T	ENSP00000363553:p.Ala89Thr	0					LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T	p.A89T	NM_057159.2	NP_476500.1	0	0	0	1.938587	Q92633	LPAR1_HUMAN		4	648	-			B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	1	1	hg19	c.265G>A	CCDS6777.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953693	0.92660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.36	5.36	0.76844	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.049120	0.85682	D	0.000000	T	0.79058	0.4382	L	0.39514	1.22	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.68621	0.91;0.959;0.91	T	0.81017	-0.1123	10	0.87932	D	0	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	90;90;89	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	89;90;89;89;71;90;89	ENSP00000363553:A89T;ENSP00000445697:A90T;ENSP00000363552:A89T;ENSP00000351755:A89T;ENSP00000440201:A90T;ENSP00000401810:A89T	ENSP00000351755:A89T	A	-	1	0	0	LPAR1	112744050	112744050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	0		2	2	2	0		0	0	147		147	143	1	2.060000	-20.000000	1	0.170000	NM_057159			111	108		558	545	1		1	0		0	0	147	0		1	9.682069e-01	0	0	0	30	0	111	558
LPAR1	1902	broad.mit.edu	37	9	113704413	113704413	+	Silent	SNP	G	G	A	rs34483952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704413G>A	ENST00000374431.3	-	4	464	c.81C>T	c.(79-81)aaC>aaT	p.N27N	LPAR1_ENST00000374430.2_Silent_p.N27N|LPAR1_ENST00000358883.4_Silent_p.N27N|LPAR1_ENST00000541779.1_Silent_p.N28N|LPAR1_ENST00000538760.1_Silent_p.N28N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	27					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAATGGACTCGTTGTAGAAGC	0.403													G|||	53	0.0105831	0.0371	0.0043	5008	,	,		21098	0.0		0.001	False		,,,				2504	0.0				NSCLC(115;661 2323 9836 34256)	ENST00000374431.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(79-81)aaC>aaT		lysophosphatidic acid receptor 1		G	,	125,4281	90.6+/-129.3	0,125,2078	85.0	75.0	79.0		81,81	-2.9	1.0	9	dbSNP_126	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	0,126,6377	AA,AG,GG		0.0116,2.837,0.9688	,	27/365,27/365	113704413	126,12880	2203	4300	6503	SO:0001819	synonymous_variant	1902	371	121412	58				g.chr9:113704413G>A	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.81C>T	chr9.hg19:g.113704413G>A		0					LPAR1_ENST00000541779.1_Silent_p.N28N|LPAR1_ENST00000358883.4_Silent_p.N27N|LPAR1_ENST00000538760.1_Silent_p.N28N|LPAR1_ENST00000374430.2_Silent_p.N27N	p.N27N	NM_057159.2	NP_476500.1	0	0	0	1.938587	Q92633	LPAR1_HUMAN		4	464	-			B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	1	0	hg19	c.81C>T	CCDS6777.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	0		2	2	2	0		0	0	77		77	76	1	2.060000	-4.387862	1	0.170000	NM_057159			64	64		356	347	1		1	0		0	0	77	0		1	9.781581e-01	0	1	0	35	0	64	356
OR2K2	26248	broad.mit.edu	37	9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000374428.1	-	1	808	c.809G>T	c.(808-810)gGt>gTt	p.G270V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408																																						ENST00000374428.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(808-810)gGt>gTt		olfactory receptor, family 2, subfamily K, member 2							121.0	118.0	119.0					9																	114089992		2203	4300	6503	SO:0001583	missense	26248	0	0					g.chr9:114089992C>A	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.809G>T	chr9.hg19:g.114089992C>A	ENSP00000363550:p.Gly270Val	0					OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V	p.G270V			0	0	0	1.938587	Q8NGT1	OR2K2_HUMAN		1	808	-			Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	1	1	hg19	c.809G>T		1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501482	0.44455	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.35421	1.31;1.31	4.55	3.63	0.41609	4.55	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.442645	0.16571	U	0.208623	T	0.37758	0.1015	L	0.35414	1.06	0.49582	D	0.999805	D	0.55172	0.97	P	0.51615	0.675	T	0.20505	-1.0273	10	0.66056	D	0.02	.	11.2428	0.48979	0.0:0.6415:0.3585:0.0	.	270	Q8NGT1	OR2K2_HUMAN	V	241;270	ENSP00000305055:G241V;ENSP00000363550:G270V	ENSP00000305055:G241V	G	-	2	0	0	OR2K2	113129813	113129813	0.000000	0.05858	0.998000	0.56505	0.930000	0.56654	-0.218000	0.09240	1.237000	0.43756	0.591000	0.81541	GGT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_205859			61	58		311	308	1		1			0	0	63	0		1	0	0	0	0	0	0	61	311
OR2K2	26248	broad.mit.edu	37	9	114090586	114090586	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090586C>A	ENST00000374428.1	-	1	214	c.215G>T	c.(214-216)aGc>aTc	p.S72I	OR2K2_ENST00000302681.1_Missense_Mutation_p.S43I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATAAGAGTGCTGTTGCCCAA	0.418																																						ENST00000374428.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(214-216)aGc>aTc		olfactory receptor, family 2, subfamily K, member 2							89.0	88.0	88.0					9																	114090586		2203	4300	6503	SO:0001583	missense	26248	1	121412	34				g.chr9:114090586C>A	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.215G>T	chr9.hg19:g.114090586C>A	ENSP00000363550:p.Ser72Ile	0					OR2K2_ENST00000302681.1_Missense_Mutation_p.S43I	p.S72I			0	0	0	1.938587	Q8NGT1	OR2K2_HUMAN		1	214	-			Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	1	0	hg19	c.215G>T		1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758465	0.15846	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00446	7.39;7.39	4.55	3.64	0.41730	4.55	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.138117	0.32518	U	0.005981	T	0.00271	0.0008	N	0.25992	0.78	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.33929	-0.9849	10	0.13108	T	0.6	.	12.0495	0.53500	0.1737:0.8263:0.0:0.0	.	72	Q8NGT1	OR2K2_HUMAN	I	43;72	ENSP00000305055:S43I;ENSP00000363550:S72I	ENSP00000305055:S43I	S	-	2	0	0	OR2K2	113130407	113130407	0.000000	0.05858	0.885000	0.34714	0.815000	0.46073	-0.163000	0.09997	1.253000	0.44018	0.650000	0.86243	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		0	0	0		25	2	2	2		2	2	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_205859			84	83		435	431	1		1			2	0	93	0		1	0	0	0	0	0	0	84	435
OR2K2	26248	broad.mit.edu	37	9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000374428.1	-	1	115	c.116G>A	c.(115-117)aGc>aAc	p.S39N	OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388																																						ENST00000374428.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(115-117)aGc>aAc		olfactory receptor, family 2, subfamily K, member 2							47.0	50.0	49.0					9																	114090685		2203	4299	6502	SO:0001583	missense	26248	0	0					g.chr9:114090685C>T	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.116G>A	chr9.hg19:g.114090685C>T	ENSP00000363550:p.Ser39Asn	0					OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N	p.S39N			0	0	0	1.938587	Q8NGT1	OR2K2_HUMAN		1	115	-			Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	1	1	hg19	c.116G>A		1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194496	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00575	6.46;6.46	4.47	0.0536	0.14307	4.47	0.0536	0.14307	.	0.334685	0.21273	U	0.077285	T	0.00496	0.0016	L	0.39326	1.205	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.853	0.24024	0.0:0.5422:0.2849:0.1729	.	39	Q8NGT1	OR2K2_HUMAN	N	10;39	ENSP00000305055:S10N;ENSP00000363550:S39N	ENSP00000305055:S10N	S	-	2	0	0	OR2K2	113130506	113130506	0.009000	0.17119	0.027000	0.17364	0.973000	0.67179	-0.574000	0.05868	0.200000	0.20447	0.655000	0.94253	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_205859			65	62		222	215	1		1			0	0	63	0		1	0	0	0	0	0	0	65	222
KIAA0368	23392	broad.mit.edu	37	9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000338205.5	-	42	4766	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1522					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)				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						CAGGTATAATCGAATGCCACC	0.383																																						ENST00000338205.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(4546-4548)cGa>cAa		KIAA0368							70.0	67.0	68.0					9																	114134091		1828	4076	5904	SO:0001583	missense	23392	18	120770	44				g.chr9:114134091C>T	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.4547G>A	chr9.hg19:g.114134091C>T	ENSP00000339889:p.Arg1516Gln	0					KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000465499.1_5'Flank	p.R1516Q			0	0	0	1.938587	Q5VYK3	ECM29_HUMAN		42	4766	-			O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	1	1	hg19	c.4547G>A		1	.	.	.	.	.	.	.	.	.	.	C	34	5.312779	0.95655	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.50277	0.75	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78049	2.395	0.80722	D	1	D	0.56521	0.976	P	0.52514	0.701	T	0.67348	-0.5693	10	0.56958	D	0.05	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	991	B3KXF2	.	Q	1516;1694;991	ENSP00000259335:R1694Q	ENSP00000259335:R1694Q	R	-	2	0	0	KIAA0368	113173912	113173912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	0		2	2	2	0		0	0	83		83	83	1	2.060000	-3.078341	1	0.170000	NM_014686			66	64		309	307	1		1	1		0	0	83	0		1	1	0	72	0	203	0	66	309
KIAA0368	23392	broad.mit.edu	37	9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000338205.5	-	35	4157	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1319					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)				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						TTGCTCTGTCGCCCGGAGGCT	0.468																																						ENST00000338205.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(3937-3939)gCg>gTg		KIAA0368							95.0	92.0	93.0					9																	114140876		1896	4103	5999	SO:0001583	missense	23392	3	120816	37				g.chr9:114140876G>A	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.3938C>T	chr9.hg19:g.114140876G>A	ENSP00000339889:p.Ala1313Val	0					KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V	p.A1313V			0	0	0	1.938587	Q5VYK3	ECM29_HUMAN		35	4157	-			O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	1	1	hg19	c.3938C>T		1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203697	0.79127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.55588	0.51	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.79805	2.47	0.80722	D	1	P	0.39352	0.669	B	0.38296	0.27	T	0.64343	-0.6430	10	0.44086	T	0.13	.	19.3995	0.94621	0.0:0.0:1.0:0.0	.	788	B3KXF2	.	V	1313;1491;788	ENSP00000259335:A1491V	ENSP00000259335:A1491V	A	-	2	0	0	KIAA0368	113180697	113180697	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.645000	0.89757	0.563000	0.77884	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1		2	2	2	0		0	0	75		75	73	1	2.060000	-3.072547	1	0.170000	NM_014686			80	79		319	312	1		1	1		0	0	75	0		1	1	0	35	0	146	0	80	319
KIAA0368	23392	broad.mit.edu	37	9	114172458	114172458	+	Missense_Mutation	SNP	T	T	A	rs200669681	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114172458T>A	ENST00000338205.5	-	22	2632	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	KIAA0368_ENST00000259335.4_Missense_Mutation_p.I983F|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	811					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)				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						CAGGCAGCAATTGCCAGGAGG	0.458													T|||	2	0.000399361	0.0	0.0029	5008	,	,		17749	0.0		0.0	False		,,,				2504	0.0					ENST00000338205.5	1.000000	0.790000	1	9.900000e-01	0.990000	0.984715	0.990000	1.000000																										0				65						c.(2413-2415)Att>Ttt		KIAA0368							52.0	52.0	52.0					9																	114172458		1901	4141	6042	SO:0001583	missense	23392	2	120824	26				g.chr9:114172458T>A	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.2413A>T	chr9.hg19:g.114172458T>A	ENSP00000339889:p.Ile805Phe	0					KIAA0368_ENST00000374378.3_5'Flank|KIAA0368_ENST00000259335.4_Missense_Mutation_p.I983F|RNA5SP294_ENST00000411306.1_RNA	p.I805F			0	0	0	1.938587	Q5VYK3	ECM29_HUMAN		22	2632	-			O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	0	0	hg19	c.2413A>T		1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.33	1.607637	0.28623	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66099	-0.19	5.76	2.23	0.28157	5.76	2.23	0.28157	.	0.209766	0.43416	D	0.000574	T	0.46483	0.1395	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20306	-1.0279	10	0.13108	T	0.6	.	7.6146	0.28150	0.0:0.3511:0.0:0.6489	.	280	B3KXF2	.	F	805;983;280	ENSP00000259335:I983F	ENSP00000259335:I983F	I	-	1	0	0	KIAA0368	113212279	113212279	0.114000	0.22134	0.997000	0.53966	0.997000	0.91878	0.310000	0.19356	0.458000	0.26988	0.528000	0.53228	ATT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.998470	1	0.170000	NM_014686			14	14		99	97	1		1	1		0	0	12	0		9.997955e-01	9.999962e-01	0	39	0	142	0	14	99
KIAA0368	23392	broad.mit.edu	37	9	114178627	114178627	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000338205.5	-	17	1908	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	KIAA0368_ENST00000259335.4_Silent_p.S741S			Q5VYK3	ECM29_HUMAN	KIAA0368	569					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)				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						TCATTCGATGAGAAGCCTAAG	0.393																																						ENST00000338205.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999944	0.990000	1.000000																										0				65						c.(1687-1689)tcT>tcC		KIAA0368							76.0	74.0	75.0					9																	114178627		1856	4105	5961	SO:0001819	synonymous_variant	23392	0	0					g.chr9:114178627A>G	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.1689T>C	chr9.hg19:g.114178627A>G		0					KIAA0368_ENST00000259335.4_Silent_p.S741S	p.S563S			0	0	0	1.938587	Q5VYK3	ECM29_HUMAN		17	1908	-			O15074|Q8WU82	Silent	SNP	ENST00000338205.5	1	1	hg19	c.1689T>C		1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_014686			29	29		135	135	1		1	1		0	0	33	0		1	9.999996e-01	0	33	0	86	0	29	135
C9orf84	158401	broad.mit.edu	37	9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000318737.4	-	25	4099	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y	C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1324										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						ACCTTTCTGAGAGTACAATTT	0.373																																						ENST00000318737.4	1.000000	0.590000	1	7.100000e-01	0.860000	0.860203	0.860000	1.000000																										0				35						c.(3970-3972)tCt>tAt		chromosome 9 open reading frame 84							73.0	76.0	75.0					9																	114454094		2203	4300	6503	SO:0001583	missense	158401	0	0					g.chr9:114454094G>T	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.3971C>A	chr9.hg19:g.114454094G>T	ENSP00000322108:p.Ser1324Tyr	0					C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y	p.S1324Y	NM_173521.3	NP_775792.3	0	0	0	1.938587	Q5VXU9	CI084_HUMAN		25	4099	-			A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	1	1	hg19	c.3971C>A	CCDS6781.3	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.10573	2.86;2.92;2.88;2.88	5.29	4.39	0.52855	5.29	4.39	0.52855	.	0.267845	0.27080	N	0.021025	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.57720	0.826;0.826;0.826	T	0.03739	-1.1008	10	0.87932	D	0	-5.3437	7.8994	0.29725	0.1807:0.0:0.8193:0.0	.	1250;1324;1285	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1285;1250;938;1324;1324	ENSP00000378259:S1285Y;ENSP00000378257:S1250Y;ENSP00000363405:S1324Y;ENSP00000322108:S1324Y	ENSP00000322108:S1324Y	S	-	2	0	0	C9orf84	113493915	113493915	1.000000	0.71417	0.434000	0.26772	0.393000	0.30537	1.863000	0.39459	1.457000	0.47850	0.467000	0.42956	TCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.075757	1	0.170000	NM_173521			27	27		327	322	0		1	1		0	0	70	0		1	1.012148e-01	0	3	0	4	0	27	327
C9orf84	158401	broad.mit.edu	37	9	114454384	114454384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454384C>A	ENST00000318737.4	-	25	3809	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1188D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1227										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						AGACATCTGACTCTGAATCAC	0.373																																						ENST00000318737.4	0.460000	0.120000	3.600000e-01	1.800000e-01	0.260000	0.277153	0.260000	0.250000																										0				35						c.(3679-3681)gaG>gaT		chromosome 9 open reading frame 84							54.0	59.0	57.0					9																	114454384		2202	4300	6502	SO:0001583	missense	158401	0	0					g.chr9:114454384C>A	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.3681G>T	chr9.hg19:g.114454384C>A	ENSP00000322108:p.Glu1227Asp	0					C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1188D	p.E1227D	NM_173521.3	NP_775792.3	0	0	0	1.938587	Q5VXU9	CI084_HUMAN		25	3809	-			A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	0	1	hg19	c.3681G>T	CCDS6781.3	0	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285060	0.40394	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06142	3.34;3.38;3.35;3.35	5.4	-2.56	0.06268	5.4	-2.56	0.06268	.	0.539342	0.16780	N	0.199831	T	0.03783	0.0107	L	0.32530	0.975	0.23227	N	0.998088	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.34453	-0.9828	10	0.49607	T	0.09	-0.0425	1.4932	0.02461	0.1172:0.2962:0.2293:0.3574	.	1153;1227;1188	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	D	1188;1153;841;1227;1227	ENSP00000378259:E1188D;ENSP00000378257:E1153D;ENSP00000363405:E1227D;ENSP00000322108:E1227D	ENSP00000322108:E1227D	E	-	3	2	2	C9orf84	113494205	113494205	0.193000	0.23313	0.326000	0.25389	0.930000	0.56654	-0.665000	0.05286	-0.743000	0.04784	0.467000	0.42956	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	0	0	0		2	2	2	0		0	0	76		76	76	1	2.060000	-8.075925	1	0.170000	NM_173521			8	6		355	348	0		1	0		0	0	76	0		9.884353e-01	1.970039e-03	0	0	0	3	0	8	355
C9orf84	158401	broad.mit.edu	37	9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000318737.4	-	10	1165	c.1037T>G	c.(1036-1038)aTa>aGa	p.I346R	C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										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						AACAGAAAATATCTTTTTCAA	0.333																																						ENST00000318737.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1036-1038)aTa>aGa		chromosome 9 open reading frame 84							89.0	90.0	90.0					9																	114500748		2202	4299	6501	SO:0001583	missense	158401	0	0					g.chr9:114500748A>C	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.1037T>G	chr9.hg19:g.114500748A>C	ENSP00000322108:p.Ile346Arg	0					C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R	p.I346R	NM_173521.3	NP_775792.3	0	0	0	1.938587	Q5VXU9	CI084_HUMAN		10	1165	-			A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	1	1	hg19	c.1037T>G	CCDS6781.3	1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848526	0.32699	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.88	1.21	0.21127	4.88	1.21	0.21127	.	0.960710	0.08668	N	0.911433	T	0.46698	0.1406	L	0.32530	0.975	0.09310	N	0.999998	P;P;D;D	0.57571	0.688;0.688;0.958;0.98	B;B;P;P	0.56700	0.246;0.246;0.748;0.804	T	0.32322	-0.9911	10	0.87932	D	0	0.4228	3.1529	0.06494	0.6338:0.0:0.191:0.1751	.	307;410;346;307	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	R	307;307;346;346;410	ENSP00000378259:I307R;ENSP00000378257:I307R;ENSP00000363405:I346R;ENSP00000322108:I346R;ENSP00000363401:I410R	ENSP00000322108:I346R	I	-	2	0	0	C9orf84	113540569	113540569	0.005000	0.15991	0.000000	0.03702	0.431000	0.31685	0.988000	0.29616	0.112000	0.17975	0.377000	0.23210	ATA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_173521			67	67		303	298	1		1			0	0	55	0		1	0	0	0	0	0	0	67	303
UGCG	7357	broad.mit.edu	37	9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	271					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)			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)	CAGTTTCAATCCAGAATGATC	0.338																																						ENST00000374279.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998144	0.990000	1.000000																										0				12						c.(811-813)tCc>tTc		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						94.0	93.0	93.0					9																	114693625		2203	4300	6503	SO:0001583	missense	7357	0	0					g.chr9:114693625C>T	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.812C>T	chr9.hg19:g.114693625C>T	ENSP00000363397:p.Ser271Phe	0					MIR4668_ENST00000582284.1_RNA	p.S271F	NM_003358.1	NP_003349.1	0	0	0	1.938587	Q16739	CEGT_HUMAN		7	1262	+			Q5T258	Missense_Mutation	SNP	ENST00000374279.3	1	1	hg19	c.812C>T	CCDS6782.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879392	0.91740	.	.	ENSG00000148154	ENST00000374279	T	0.59638	0.25	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.59889	0.865	T	0.68383	-0.5423	10	0.56958	D	0.05	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	271	Q16739	CEGT_HUMAN	F	271	ENSP00000363397:S271F	ENSP00000363397:S271F	S	+	2	0	0	UGCG	113733446	113733446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.800000	0.62524	2.831000	0.97527	0.650000	0.86243	TCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	0	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.321369	1	0.170000	NM_003358			27	27		179	175	1		1	1		0	0	34	0		1	9.999989e-01	0	32	0	121	0	27	179
SUSD1	64420	broad.mit.edu	37	9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C|SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	594						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483																																						ENST00000374270.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SUSD1/ROD1(2)	0				28						c.(1780-1782)tTt>tGt		sushi domain containing 1							115.0	122.0	119.0					9																	114825286		2203	4300	6503	SO:0001583	missense	64420	0	0					g.chr9:114825286A>C	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.1781T>G	chr9.hg19:g.114825286A>C	ENSP00000363388:p.Phe594Cys	0					SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	p.F594C	NM_022486.3	NP_071931.2	0	0	0	1.938587	Q6UWL2	SUSD1_HUMAN		13	1953	-			A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	1	1	hg19	c.1781T>G	CCDS6783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.38|12.38	1.921354|1.921354	0.33908|0.33908	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|T	0.29917|0.52295	1.55;1.55;1.55|0.67	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.349077|0.349077	0.20881|0.20881	N|N	0.083985|0.083985	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.59436|0.59436	1.845|1.845	0.29950|0.29950	N|N	0.820311|0.820311	D;D;D|.	0.67145|.	0.996;0.969;0.988|.	P;P;P|.	0.56216|.	0.794;0.719;0.533|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|8	0.59425|0.72032	D|D	0.04|0.01	-5.4508|-5.4508	12.8644|12.8644	0.57932|0.57932	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;594;594|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|L	594|577	ENSP00000363388:F594C;ENSP00000363381:F594C;ENSP00000363382:F594C|ENSP00000347558:F577L	ENSP00000363381:F594C|ENSP00000347558:F577L	F|F	-|-	2|3	0|2	0|2	SUSD1|SUSD1	113865107|113865107	113865107|113865107	0.454000|0.454000	0.25728|0.25728	0.226000|0.226000	0.23910|0.23910	0.005000|0.005000	0.04900|0.04900	2.006000|2.006000	0.40874|0.40874	2.031000|2.031000	0.59945|0.59945	0.533000|0.533000	0.62120|0.62120	TTT|TTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-20.000000	1	0.170000	NM_022486			110	106		379	368	1		1	1		0	0	96	0		1	9.993656e-01	0	3	0	37	0	110	379
SUSD1	64420	broad.mit.edu	37	9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I|SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	350						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532																																						ENST00000374270.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																									SUSD1/ROD1(2)	0				28						c.(1048-1050)aCc>aTc		sushi domain containing 1							269.0	224.0	240.0					9																	114874056		2203	4300	6503	SO:0001583	missense	64420	0	0					g.chr9:114874056G>A	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.1049C>T	chr9.hg19:g.114874056G>A	ENSP00000363388:p.Thr350Ile	0					SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	p.T350I	NM_022486.3	NP_071931.2	0	0	0	1.938587	Q6UWL2	SUSD1_HUMAN		8	1221	-			A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	1	1	hg19	c.1049C>T	CCDS6783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624689|3.624689	0.66901|0.66901	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.79;-0.81;-0.86	5.61|5.61	4.69|4.69	0.59074|0.59074	5.61|5.61	4.69|4.69	0.59074|0.59074	.|.	.|0.132704	.|0.34652	.|N	.|0.003797	D|D	0.85256|0.85256	0.5655|0.5655	M|M	0.82823|0.82823	2.61|2.61	0.32752|0.32752	N|N	0.506256|0.506256	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	D|D	0.87466|0.87466	0.2411|0.2411	5|10	.|0.30854	.|T	.|0.27	-7.586|-7.586	12.0414|12.0414	0.53454|0.53454	0.0:0.0:0.8275:0.1725|0.0:0.0:0.8275:0.1725	.|.	.|350;350;350	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|I	164|350	.|ENSP00000363388:T350I;ENSP00000363381:T350I;ENSP00000363382:T350I	.|ENSP00000363381:T350I	P|T	-|-	1|2	0|0	0|0	SUSD1|SUSD1	113913877|113913877	113913877|113913877	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	3.367000|3.367000	0.52350|0.52350	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	CCA|ACC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_022486			63	63		299	288	1		1	1		0	0	67	0		1	9.980451e-01	0	4	0	43	0	63	299
KIAA1958	158405	broad.mit.edu	37	9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438																																						ENST00000337530.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(28-30)gaG>gaT		KIAA1958							82.0	80.0	80.0					9																	115336390		2203	4300	6503	SO:0001583	missense	158405	0	0					g.chr9:115336390G>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.30G>T	chr9.hg19:g.115336390G>T	ENSP00000336940:p.Glu10Asp	0					KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	p.E10D	NM_133465.2	NP_597722.1	0	0	0	1.938587	Q8N8K9	K1958_HUMAN		2	326	+			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	1	1	hg19	c.30G>T	CCDS35108.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825386	0.32237	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.92	2.76	0.32466	5.92	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.17109	0.0411	N	0.03608	-0.345	0.35121	D	0.767021	P;B	0.38020	0.615;0.384	B;B	0.36186	0.219;0.112	T	0.15093	-1.0449	9	0.45353	T	0.12	-2.8457	5.2392	0.15462	0.5361:0.0:0.4639:0.0	.	10;10	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	10	.	ENSP00000336940:E10D	E	+	3	2	2	KIAA1958	114376211	114376211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.605000	0.46283	0.855000	0.35359	-0.266000	0.10368	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-3.339826	1	0.170000	NM_133465			67	67		297	293	1		1	0		0	0	90	0		1	3.493099e-02	0	1	0	1	0	67	297
KIAA1958	158405	broad.mit.edu	37	9	115421560	115421560	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	454										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552																																						ENST00000337530.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1360-1362)ttG>ttA		KIAA1958							87.0	74.0	78.0					9																	115421560		2203	4300	6503	SO:0001819	synonymous_variant	158405	0	0					g.chr9:115421560G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1362G>A	chr9.hg19:g.115421560G>A		0					KIAA1958_ENST00000536272.1_Silent_p.L482L	p.L454L	NM_133465.2	NP_597722.1	0	0	0	1.938587	Q8N8K9	K1958_HUMAN		4	1658	+			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	1	1	hg19	c.1362G>A	CCDS35108.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_133465			72	72		365	361	0		1	1		0	0	80	0		1	2.627635e-01	0	2	0	4	0	72	365
KIAA1958	158405	broad.mit.edu	37	9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T	rs200477840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577																																						ENST00000337530.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995568	0.990000	1.000000																										0				25						c.(1573-1575)gCg>gTg		KIAA1958							61.0	51.0	54.0					9																	115421772		2203	4300	6503	SO:0001583	missense	158405	6	121410	32				g.chr9:115421772C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1574C>T	chr9.hg19:g.115421772C>T	ENSP00000336940:p.Ala525Val	0					KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	p.A525V	NM_133465.2	NP_597722.1	0	0	0	1.938587	Q8N8K9	K1958_HUMAN		4	1870	+			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	1	1	hg19	c.1574C>T	CCDS35108.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601652	0.46423	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.26310	N	0.977833	P;P	0.44006	0.824;0.53	B;B	0.33121	0.158;0.048	T	0.13176	-1.0519	8	0.27785	T	0.31	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	553;525	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	525;553	.	ENSP00000336940:A525V	A	+	2	0	0	KIAA1958	114461593	114461593	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.033000	0.41136	2.676000	0.91093	0.655000	0.94253	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_133465			18	18		113	110	1		1	0		0	0	24	0		9.999858e-01	2.648898e-01	0	1	0	6	0	18	113
SLC46A2	57864	broad.mit.edu	37	9	115652542	115652542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	140					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692																																						ENST00000374228.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				18						c.(418-420)gcG>gcA		solute carrier family 46, member 2							23.0	28.0	26.0					9																	115652542		2198	4290	6488	SO:0001819	synonymous_variant	57864	0	0					g.chr9:115652542C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.420G>A	chr9.hg19:g.115652542C>T		0						p.A140A	NM_033051.3	NP_149040.3	0	0	0	1.938587	Q9BY10	TSCOT_HUMAN		1	651	-			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	1	1	hg19	c.420G>A	CCDS6786.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_033051			45	43		238	235	1		1	0		0	0	38	0		1	0	0	0	0	1	0	45	238
FKBP15	23307	broad.mit.edu	37	9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1214	Poly-Asp.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527																																						ENST00000238256.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997843	0.990000	1.000000																										0				26						c.(3640-3642)Gac>Aac		FK506 binding protein 15, 133kDa							61.0	64.0	63.0					9																	115928378		2000	4183	6183	SO:0001583	missense	23307	0	0					g.chr9:115928378C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3640G>A	chr9.hg19:g.115928378C>T	ENSP00000238256:p.Asp1214Asn	0						p.D1214N	NM_015258.1	NP_056073.1	0	0	0	1.938587	Q5T1M5	FKB15_HUMAN		28	3757	-			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	1	1	hg19	c.3640G>A	CCDS48007.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.193798	0.94960	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	5.7	5.7	0.88788	.	.	.	.	.	T	0.56352	0.1979	L	0.51422	1.61	0.41849	D	0.990163	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57100	-0.7869	9	0.87932	D	0	-9.6325	17.3254	0.87245	0.0:1.0:0.0:0.0	.	795;1214	B4DVS2;Q5T1M5	.;FKB15_HUMAN	N	1239;1214	ENSP00000416158:D1239N;ENSP00000238256:D1214N	ENSP00000238256:D1214N	D	-	1	0	0	FKBP15	114968199	114968199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	2.687000	0.91594	0.563000	0.77884	GAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_015258			18	18		100	98	1		1	1		0	0	23	0		9.999874e-01	9.999961e-01	0	7	0	124	0	18	100
FKBP15	23307	broad.mit.edu	37	9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	193					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502																																						ENST00000238256.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997089	0.990000	1.000000																										2	Substitution - Missense(2)	p.A218T(1)|p.A193T(1)	endometrium(2)	26						c.(577-579)Gct>Act		FK506 binding protein 15, 133kDa							50.0	50.0	50.0					9																	115962165		1985	4161	6146	SO:0001583	missense	23307	0	0					g.chr9:115962165C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.577G>A	chr9.hg19:g.115962165C>T	ENSP00000238256:p.Ala193Thr	0						p.A193T	NM_015258.1	NP_056073.1	0	0	0	1.938587	Q5T1M5	FKB15_HUMAN		7	694	-			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	1	1	hg19	c.577G>A	CCDS48007.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615398	0.87359	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	3.72	0.42706	5.95	3.72	0.42706	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	.	.	.	.	D	0.83926	0.5360	L	0.37507	1.11	0.32142	N	0.585427	P;D;P	0.57571	0.57;0.98;0.783	B;P;P	0.53689	0.444;0.732;0.661	D	0.84920	0.0853	9	0.66056	D	0.02	-8.9134	9.7822	0.40656	0.1546:0.7608:0.0:0.0846	.	193;193;193	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	T	218;193;218	ENSP00000416158:A218T;ENSP00000238256:A193T;ENSP00000415733:A218T	ENSP00000238256:A193T	A	-	1	0	0	FKBP15	115001986	115001986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.444000	0.47605	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_015258			16	16		87	85	1		1	1		0	0	27	0		9.999509e-01	9.962413e-01	0	12	0	42	0	16	87
FKBP15	23307	broad.mit.edu	37	9	115965247	115965247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	131	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378																																						ENST00000238256.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997556	0.990000	1.000000																										0				26						c.(391-393)gaG>gaA		FK506 binding protein 15, 133kDa							80.0	73.0	75.0					9																	115965247		1868	4120	5988	SO:0001819	synonymous_variant	23307	0	0					g.chr9:115965247C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.393G>A	chr9.hg19:g.115965247C>T		0						p.E131E	NM_015258.1	NP_056073.1	0	0	0	1.938587	Q5T1M5	FKB15_HUMAN		5	510	-			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	1	1	hg19	c.393G>A	CCDS48007.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-20.000000	1	0.170000	NM_015258			16	16		84	78	0		1	1		0	0	18	0		9.999317e-01	9.971717e-01	0	3	0	52	0	16	84
WDR31	114987	broad.mit.edu	37	9	116094247	116094247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374193.4	-	3	302	c.56G>T	c.(55-57)aGg>aTg	p.R19M	WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000461942.1_Intron	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	19										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463																																						ENST00000374193.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999139	0.990000	1.000000																										0				6						c.(55-57)aGg>aTg		WD repeat domain 31							164.0	137.0	146.0					9																	116094247		2203	4300	6503	SO:0001583	missense	114987	0	0					g.chr9:116094247C>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.56G>T	chr9.hg19:g.116094247C>A	ENSP00000363308:p.Arg19Met	0					WDR31_ENST00000461942.1_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame	p.R19M	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	0	0	0	1.938587	Q8NA23	WDR31_HUMAN		3	302	-			Q5W0T9|Q96EG8	Missense_Mutation	SNP	ENST00000374193.4	1	0	hg19	c.56G>T	CCDS35110.1	1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219539	0.22373	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66815	-0.2;-0.23	5.87	-0.0403	0.13872	5.87	-0.0403	0.13872	.	1.347990	0.04219	N	0.333086	T	0.56804	0.2010	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.28584	0.138;0.216	B;B	0.34385	0.088;0.181	T	0.47086	-0.9144	10	0.42905	T	0.14	5.335	0.6637	0.00847	0.1702:0.3512:0.1655:0.3131	.	19;19	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	M	19	ENSP00000363308:R19M;ENSP00000345027:R19M	ENSP00000345027:R19M	R	-	2	0	0	WDR31	115134068	115134068	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.073000	0.14640	0.379000	0.24794	0.650000	0.86243	AGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.076046	1	0.170000	NM_145241			37	37		254	254	1		1	0		0	0	57	0		1	4.694692e-02	0	1	0	2	0	37	254
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478																																						ENST00000288462.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				15						c.(1012-1014)Gtt>Att		chromosome 9 open reading frame 43		G	ILE/VAL	0,4406		0,0,2203	143.0	118.0	126.0		1012	-3.6	0.0	9	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	338/462	116187992	1,13005	2203	4300	6503	SO:0001583	missense	257169	6	121412	38				g.chr9:116187992G>A	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.1012G>A	chr9.hg19:g.116187992G>A	ENSP00000288462:p.Val338Ile	0					C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	p.V338I	NM_152786.1	NP_689999.1	0	0	0	1.938587	Q8TAL5	CI043_HUMAN		11	1458	+				Missense_Mutation	SNP	ENST00000288462.4	1	1	hg19	c.1012G>A	CCDS6796.1	1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	0	C9orf43	115227813	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_152786			53	51		265	262	1		1	1		0	0	74	0		1	1.359159e-01	0	3	0	1	0	53	265
RGS3	5998	broad.mit.edu	37	9	116353676	116353676	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000394646.3_Splice_Site_p.L420L|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RGS3_ENST00000343817.5_Splice_Site_p.L746L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1027					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)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592																																						ENST00000374140.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				48						c.(3079-3081)Cta>Tta		regulator of G-protein signaling 3							94.0	86.0	89.0					9																	116353676		2203	4300	6503	SO:0001630	splice_region_variant	5998	0	0					g.chr9:116353676C>T	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.3080+1C>T	chr9.hg19:g.116353676C>T		0					RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RGS3_ENST00000394646.3_Splice_Site_p.L420L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000343817.5_Splice_Site_p.L746L|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000342620.5_Intron	p.L1027L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	0	0	0	1.938587	P49796	RGS3_HUMAN		22	3288	+			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	ENST00000374140.2	1	0	hg19	c.3079C>T	CCDS43869.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-3.196048	1	0.170000	NM_017790	Silent		45	45		195	192	1		1	1		0	0	56	0		1	9.999987e-01	0	19	0	74	0	45	195
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547																																						ENST00000265132.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(844-846)cGa>cAa		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						74.0	70.0	71.0					9																	116823712		2203	4300	6503	SO:0001583	missense	259	5	121412	41				g.chr9:116823712C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.845G>A	chr9.hg19:g.116823712C>T	ENSP00000265132:p.Arg282Gln	0						p.R282Q	NM_001633.3	NP_001624.1	0	0	0	1.938587	P02760	AMBP_HUMAN		8	1107	-			P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	1	1	hg19	c.845G>A	CCDS6800.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	0	AMBP	115863533	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	1	0	1		2	2	2	0		0	0	99		99	95	1	2.060000	-2.969023	1	0.170000	NM_001633			85	85		457	448	1		1	1		0	0	99	0		1	1	0	16	0	198	0	85	457
AMBP	259	broad.mit.edu	37	9	116840415	116840415	+	Silent	SNP	C	C	T	rs200238441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		17510	0.003		0.0	False		,,,				2504	0.0031					ENST00000265132.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.P25P(2)	breast(1)|kidney(1)	11						c.(73-75)ccG>ccA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						111.0	121.0	117.0					9																	116840415		2203	4300	6503	SO:0001819	synonymous_variant	259	52	121412	49				g.chr9:116840415C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.75G>A	chr9.hg19:g.116840415C>T		0						p.P25P	NM_001633.3	NP_001624.1	0	0	0	1.938587	P02760	AMBP_HUMAN		1	337	-			P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	1	1	hg19	c.75G>A	CCDS6800.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	1	0	1		2	2	2	0		0	0	89		89	88	1	2.060000	-3.419351	1	0.170000	NM_001633			113	108		494	487	1		1	1		0	0	89	0		1	1	0	11	0	148	0	113	494
KIF12	113220	broad.mit.edu	37	9	116856514	116856514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	415	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632																																						ENST00000374118.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(844-846)caG>caA		kinesin family member 12							57.0	61.0	60.0					9																	116856514		2203	4300	6503	SO:0001819	synonymous_variant	113220	0	0					g.chr9:116856514C>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.846G>A	chr9.hg19:g.116856514C>T		0					KIF12_ENST00000473174.1_Intron	p.Q282Q	NM_138424.1	NP_612433.1	0	0	0	1.938587	Q96FN5	KIF12_HUMAN		10	1083	-			Q5TBE0	Silent	SNP	ENST00000374118.3	1	1	hg19	c.846G>A	CCDS6801.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	1	0	1		2	2	2	0		0	0	74		74	72	1	2.060000	-20.000000	1	0.170000	NM_138424			75	74		388	380	1		1	1		0	0	74	0		1	9.999994e-01	0	35	0	73	0	75	388
COL27A1	85301	broad.mit.edu	37	9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T	rs200705000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	939	Collagen-like 6.|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)			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						GCCGGGACCCCGTGGGCAGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17520	0.0		0.0	False		,,,				2504	0.001					ENST00000356083.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(2815-2817)Cgt>Tgt		collagen, type XXVII, alpha 1		C	CYS/ARG	0,4406		0,0,2203	70.0	80.0	76.0		2815	0.0	0.9	9		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL27A1	NM_032888.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	939/1861	117002747	1,13005	2203	4300	6503	SO:0001583	missense	85301	14	121412	46				g.chr9:117002747C>T	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.2815C>T	chr9.hg19:g.117002747C>T	ENSP00000348385:p.Arg939Cys	0						p.R939C	NM_032888.2	NP_116277.2	0	0	0	1.938587	Q8IZC6	CORA1_HUMAN		21	3206	+			Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	1	1	hg19	c.2815C>T	CCDS6802.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906833	0.52333	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	5.91	0.00205	0.14048	5.91	0.00205	0.14048	.	.	.	.	.	D	0.91855	0.7422	M	0.88704	2.975	0.40930	D	0.984383	B	0.11235	0.004	B	0.11329	0.006	D	0.85687	0.1304	9	0.56958	D	0.05	.	3.6787	0.08302	0.4976:0.2923:0.126:0.0841	.	939	Q8IZC6	CORA1_HUMAN	C	939	ENSP00000348385:R939C	ENSP00000348385:R939C	R	+	1	0	0	COL27A1	116042568	116042568	0.873000	0.30073	0.948000	0.38648	0.996000	0.88848	1.396000	0.34531	0.070000	0.16634	-0.140000	0.14226	CGT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1		2	2	2	0		0	0	98		98	97	1	2.060000	-3.686410	1	0.170000	NM_032888			172	170		611	607	1		1	0		0	0	98	0		1	6.215690e-01	0	0	0	9	0	172	611
COL27A1	85301	broad.mit.edu	37	9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1411	Collagen-like 13.|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)			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						GCAAGGCAAGGCAGGGGCCCC	0.647																																						ENST00000356083.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4231-4233)Gca>Aca		collagen, type XXVII, alpha 1							39.0	46.0	44.0					9																	117052362		2203	4300	6503	SO:0001583	missense	85301	0	0					g.chr9:117052362G>A	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.4231G>A	chr9.hg19:g.117052362G>A	ENSP00000348385:p.Ala1411Thr	0						p.A1411T	NM_032888.2	NP_116277.2	0	0	0	1.938587	Q8IZC6	CORA1_HUMAN		46	4622	+			Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	1	1	hg19	c.4231G>A	CCDS6802.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93488	-3.23	4.89	3.96	0.45880	4.89	3.96	0.45880	.	.	.	.	.	D	0.82921	0.5142	N	0.08118	0	0.22571	N	0.998973	P	0.45044	0.849	B	0.39617	0.305	T	0.73206	-0.4056	9	0.13853	T	0.58	.	9.7579	0.40515	0.0:0.279:0.721:0.0	.	1411	Q8IZC6	CORA1_HUMAN	T	1411	ENSP00000348385:A1411T	ENSP00000348385:A1411T	A	+	1	0	0	COL27A1	116092183	116092183	0.971000	0.33674	0.993000	0.49108	0.922000	0.55478	0.880000	0.28159	2.249000	0.74217	0.491000	0.48974	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_032888			80	78		303	293	0		1	0		0	0	57	0		1	4.507623e-01	0	0	0	7	0	80	303
COL27A1	85301	broad.mit.edu	37	9	117069983	117069983	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1714	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)			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						TTGGCTGCTCCTCTGACACCA	0.567																																						ENST00000356083.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(5140-5142)tcC>tcA		collagen, type XXVII, alpha 1							235.0	177.0	197.0					9																	117069983		2203	4300	6503	SO:0001819	synonymous_variant	85301	0	0					g.chr9:117069983C>A	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.5142C>A	chr9.hg19:g.117069983C>A		0						p.S1714S	NM_032888.2	NP_116277.2	0	0	0	1.938587	Q8IZC6	CORA1_HUMAN		59	5533	+			Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	1	1	hg19	c.5142C>A	CCDS6802.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1		2	2	2	0		0	0	120		120	118	1	2.060000	-2.977319	1	0.170000	NM_032888			84	82		388	375	1		1	0		0	0	120	0		1	7.406069e-01	0	1	0	13	0	84	388
AKNA	80709	broad.mit.edu	37	9	117120303	117120303	+	Silent	SNP	G	G	A	rs557155287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000374088.3_Silent_p.S879S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	879					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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		18481	0.0		0.0	False		,,,				2504	0.001					ENST00000307564.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				51						c.(2635-2637)tcC>tcT		AT-hook transcription factor							65.0	64.0	64.0					9																	117120303		2203	4300	6503	SO:0001819	synonymous_variant	80709	3	121410	32				g.chr9:117120303G>A	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.2637C>T	chr9.hg19:g.117120303G>A		0					AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000374075.5_Silent_p.S798S	p.S879S	NM_030767.4	NP_110394.3	0	0	0	1.941936	Q7Z591	AKNA_HUMAN		12	2798	-			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	1	1	hg19	c.2637C>T	CCDS6805.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.078831	1	0.170000	NM_030767			59	57		332	324	1		1	0		0	0	68	0		1	9.999712e-01	0	0	0	88	0	59	332
FOXD4	2298	broad.mit.edu	37	9	117637	117637	+	Silent	SNP	G	G	A	rs138098441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117637G>A	ENST00000382500.2	-	1	780	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTTGACGAAGCAGTCGTTCA	0.637													.|||	119	0.023762	0.0847	0.0101	5008	,	,		14103	0.0		0.0	False		,,,				2504	0.0					ENST00000382500.2			0	0																														0				14						c.(481-483)tgC>tgT		forkhead box D4		G		293,4087		3,287,1900	104.0	143.0	130.0		483	2.2	1.0	9	dbSNP_134	130	1,8567		0,1,4283	no	coding-synonymous	FOXD4	NM_207305.3		3,288,6183	AA,AG,GG		0.0117,6.6895,2.2706		161/440	117637	294,12654	2190	4284	6474	SO:0001819	synonymous_variant	2298	805	120958	64				g.chr9:117637G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.483C>T	chr9.hg19:g.117637G>A								p.C161C	NM_207305.4	NP_997188.2					Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	1	780	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	1	0	hg19	c.483C>T	CCDS34975.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.637	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	1	0	1		2	2	2	0		0	0	407		407	413	1	2.060000	-2.101934	0	0.170000	NM_207305			412	317		1626	1315	0		1	0		0	0	407	0		1	0	0	1	0	0	0	412	1626
DFNB31	25861	broad.mit.edu	37	9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D|DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	478					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)				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						TGCCTCTCACCTCAGAGAGGA	0.627																																						ENST00000362057.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.993816	0.990000	1.000000																										0				38						c.(1432-1434)gaG>gaT		deafness, autosomal recessive 31							57.0	56.0	56.0					9																	117185786		2203	4300	6503	SO:0001583	missense	25861	0	0					g.chr9:117185786C>A	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.1434G>T	chr9.hg19:g.117185786C>A	ENSP00000354623:p.Glu478Asp	0					DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	p.E478D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	0	0	0	1.941936	Q9P202	WHRN_HUMAN		7	1602	-			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	1	1	hg19	c.1434G>T	CCDS6806.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702839	0.48307	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.13089	3.48;3.44;2.62	5.3	2.45	0.29901	5.3	2.45	0.29901	.	0.206212	0.42548	N	0.000694	T	0.11922	0.0290	L	0.46947	1.48	0.52501	D	0.999955	B;B;B	0.29590	0.063;0.25;0.174	B;B;B	0.31390	0.129;0.129;0.126	T	0.09164	-1.0687	10	0.49607	T	0.09	-27.4925	6.1806	0.20470	0.1321:0.6567:0.0:0.2112	.	478;478;127	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	95;127;478	ENSP00000265134:E95D;ENSP00000363172:E127D;ENSP00000354623:E478D	ENSP00000265134:E95D	E	-	3	2	2	DFNB31	116225607	116225607	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.725000	0.25970	0.240000	0.21263	0.555000	0.69702	GAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-3.017764	1	0.170000	NM_015404			44	43		369	362	1		1	0		0	0	89	0		1	2.549778e-01	0	1	0	8	0	44	369
TNFSF8	944	broad.mit.edu	37	9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	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)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423																																						ENST00000223795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(547-549)aCg>aTg		tumor necrosis factor (ligand) superfamily, member 8							260.0	225.0	237.0					9																	117666368		2203	4300	6503	SO:0001583	missense	944	1	121412	34				g.chr9:117666368G>A	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.548C>T	chr9.hg19:g.117666368G>A	ENSP00000223795:p.Thr183Met	0					TNFSF8_ENST00000474301.1_Intron	p.T183M	NM_001244.3	NP_001235.1	0	0	0	1.941936	P32971	TNFL8_HUMAN		4	661	-			O43404	Missense_Mutation	SNP	ENST00000223795.2	1	1	hg19	c.548C>T	CCDS6810.1	1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039876	0.19669	.	.	ENSG00000106952	ENST00000223795	T	0.45276	0.9	5.78	0.459	0.16678	5.78	0.459	0.16678	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.606253	0.16417	N	0.215354	T	0.23054	0.0557	L	0.27053	0.805	0.09310	N	1	P	0.44776	0.843	B	0.35813	0.211	T	0.11743	-1.0575	10	0.66056	D	0.02	-10.4583	6.132	0.20211	0.0703:0.3736:0.4276:0.1285	.	183	P32971	TNFL8_HUMAN	M	183	ENSP00000223795:T183M	ENSP00000223795:T183M	T	-	2	0	0	TNFSF8	116706189	116706189	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	-0.172000	0.10779	-0.119000	0.15052	ACG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				84	80		509	498	1		1	0		0	0	110	0		1	9.363618e-01	0	0	0	30	0	84	509
TNFSF8	944	broad.mit.edu	37	9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	116					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)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383																																						ENST00000223795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(346-348)aAc>aGc		tumor necrosis factor (ligand) superfamily, member 8							139.0	136.0	137.0					9																	117666569		2203	4300	6503	SO:0001583	missense	944	0	0					g.chr9:117666569T>C	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.347A>G	chr9.hg19:g.117666569T>C	ENSP00000223795:p.Asn116Ser	0					TNFSF8_ENST00000474301.1_5'UTR	p.N116S	NM_001244.3	NP_001235.1	0	0	0	1.941936	P32971	TNFL8_HUMAN		4	460	-			O43404	Missense_Mutation	SNP	ENST00000223795.2	1	1	hg19	c.347A>G	CCDS6810.1	1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632859	0.67015	.	.	ENSG00000106952	ENST00000223795	D	0.94232	-3.38	5.63	5.63	0.86233	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.078972	0.53938	D	0.000050	D	0.92763	0.7699	L	0.29908	0.895	0.33043	D	0.531677	D	0.59767	0.986	P	0.59595	0.86	D	0.93475	0.6822	10	0.31617	T	0.26	-27.2485	13.3596	0.60648	0.0:0.0:0.0:1.0	.	116	P32971	TNFL8_HUMAN	S	116	ENSP00000223795:N116S	ENSP00000223795:N116S	N	-	2	0	0	TNFSF8	116706390	116706390	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	2.148000	0.66965	0.533000	0.62120	AAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	0		2	2	2	0		0	0	126		126	123	1	2.060000	-20.000000	1	0.170000				119	115		475	468	1		1	0		0	0	126	0		1	9.994341e-01	0	0	0	46	0	119	475
TNFSF8	944	broad.mit.edu	37	9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	19					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)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567																																						ENST00000223795.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(55-57)gCc>gAc		tumor necrosis factor (ligand) superfamily, member 8							81.0	83.0	82.0					9																	117692528		2203	4300	6503	SO:0001583	missense	944	0	0					g.chr9:117692528G>T	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.56C>A	chr9.hg19:g.117692528G>T	ENSP00000223795:p.Ala19Asp	0						p.A19D	NM_001244.3	NP_001235.1	0	0	0	1.941936	P32971	TNFL8_HUMAN		1	169	-			O43404	Missense_Mutation	SNP	ENST00000223795.2	1	1	hg19	c.56C>A	CCDS6810.1	1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309749	0.23821	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.57	0.56435	5.46	4.57	0.56435	.	0.205833	0.33875	N	0.004480	T	0.50599	0.1625	L	0.32530	0.975	0.46131	D	0.998883	P	0.50443	0.935	P	0.50490	0.642	T	0.54549	-0.8277	9	0.87932	D	0	-12.895	11.6842	0.51476	0.0822:0.0:0.9178:0.0	.	19	P32971	TNFL8_HUMAN	D	19	.	ENSP00000223795:A19D	A	-	2	0	0	TNFSF8	116732349	116732349	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.109000	0.50345	1.306000	0.44926	0.544000	0.68410	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	1		2	2	2	0		0	0	108		108	103	1	2.060000	-20.000000	1	0.170000				104	102		543	529	1		1	0		0	0	108	0		1	9.011370e-01	0	0	0	23	0	104	543
TNC	3371	broad.mit.edu	37	9	117826322	117826322	+	Silent	SNP	G	G	A	rs562793021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826322G>A	ENST00000350763.4	-	12	3924	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1171	Fibronectin type-III 7. {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)			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						CGGCCACCACGACCTCTCCCA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17576	0.001		0.0	False		,,,				2504	0.0					ENST00000350763.4	0.540000	0.260000	4.600000e-01	3.100000e-01	0.380000	0.395652	0.380000	0.380000																										0				120						c.(3511-3513)gtC>gtT		tenascin C							95.0	102.0	100.0					9																	117826322		2203	4300	6503	SO:0001819	synonymous_variant	3371	22	121408	47				g.chr9:117826322G>A		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.3513C>T	chr9.hg19:g.117826322G>A		0					TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	p.V1171V	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		12	3924	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	1	1	hg19	c.3513C>T	CCDS6811.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	1		2	2	8	0		0	0	200		200	199	1	2.060000	-3.094573	1	0.170000	NM_002160			28	27		803	786	0		1	0	1	0	2	200	490		1	2.679257e-01	9.936496e-01	0	25	29	535	28	803
TNC	3371	broad.mit.edu	37	9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000350763.4	-	11	3877	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1156	Fibronectin type-III 6. {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)			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						TCAGCAGAGAGCACTGGTGTT	0.512																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(3466-3468)Ctc>Ttc		tenascin C							170.0	178.0	175.0					9																	117826947		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117826947G>A		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.3466C>T	chr9.hg19:g.117826947G>A	ENSP00000265131:p.Leu1156Phe	0					TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	p.L1156F	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		11	3877	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.3466C>T	CCDS6811.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.728820|3.728820	0.69074|0.69074	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|T;T;T	.|0.05081	.|3.5;3.5;3.5	5.4|5.4	5.4|5.4	0.78164|0.78164	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.957;0.998	.|P;D	.|0.70487	.|0.771;0.969	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.72032	.|D	.|0.01	.|.	19.1513|19.1513	0.93491|0.93491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1156	.|E9PC84;P24821	.|.;TENA_HUMAN	V|F	82|1156	.|ENSP00000265131:L1156F;ENSP00000339553:L1156F;ENSP00000411406:L1156F	.|ENSP00000339553:L1156F	A|L	-|-	2|1	0|0	0|0	TNC|TNC	116866768|116866768	116866768|116866768	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.647000|4.647000	0.61418|0.61418	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GCT|CTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	238		238	236	1	2.060000	-20.000000	1	0.170000	NM_002160			182	178		1027	1005	1		1	0	1	0	0	238	423		1	9.855583e-01	1	1	76	38	408	182	1027
TNC	3371	broad.mit.edu	37	9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000350763.4	-	11	3729	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1106	Fibronectin type-III 6. {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)			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						CCTGCACCTGAATGATAAAGT	0.602																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(3316-3318)atT>atG		tenascin C							107.0	90.0	96.0					9																	117827095		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117827095A>C		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.3318T>G	chr9.hg19:g.117827095A>C	ENSP00000265131:p.Ile1106Met	0					TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	p.I1106M	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		11	3729	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.3318T>G	CCDS6811.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.406097|2.406097	0.42715|0.42715	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	3.2|3.2	0.36748|0.36748	5.63|5.63	3.2|3.2	0.36748|0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.069034|.	0.56097|.	D|.	0.000025|.	T|T	0.65780|0.65780	0.2724|0.2724	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.988|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.87932|.	D|.	0|.	.|.	0.971|0.971	0.01416|0.01416	0.4264:0.1535:0.2724:0.1477|0.4264:0.1535:0.2724:0.1477	.|.	1106;1106|.	E9PC84;P24821|.	.;TENA_HUMAN|.	M|A	1106|33	ENSP00000265131:I1106M;ENSP00000339553:I1106M;ENSP00000411406:I1106M|.	ENSP00000339553:I1106M|.	I|S	-|-	3|1	3|0	3|0	TNC|TNC	116866916|116866916	116866916|116866916	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	0.097000|0.097000	0.15168|0.15168	0.377000|0.377000	0.24735|0.24735	-0.408000|-0.408000	0.06270|0.06270	ATT|TCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_002160			97	95		487	478	1		1	0	1	0	0	112	997		1	9.762610e-01	1	0	158	32	970	97	487
TNC	3371	broad.mit.edu	37	9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000350763.4	-	5	2555	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	715	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)			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						CAGGCCTTCAGGTGCAGGTAA	0.468																																						ENST00000350763.4	1.000000	0.760000	1	9.300000e-01	0.990000	0.972340	0.990000	1.000000																										0				120						c.(2143-2145)cCt>cAt		tenascin C							109.0	95.0	100.0					9																	117845074		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117845074G>T		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.2144C>A	chr9.hg19:g.117845074G>T	ENSP00000265131:p.Pro715His	0					TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000537320.1_Missense_Mutation_p.P715H	p.P715H	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		5	2555	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.2144C>A	CCDS6811.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908000	0.92107	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-0.68;-1.32;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.88	5.88	0.94601	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.050234	0.85682	D	0.000000	D	0.90188	0.6933	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90283	0.4316	10	0.87932	D	0	.	20.2092	0.98286	0.0:0.0:1.0:0.0	.	715;715	E9PC84;P24821	.;TENA_HUMAN	H	715	ENSP00000344400:P715H;ENSP00000438152:P715H;ENSP00000344555:P715H;ENSP00000345861:P715H;ENSP00000265131:P715H;ENSP00000339553:P715H;ENSP00000411406:P715H;ENSP00000443478:P715H;ENSP00000442242:P715H	ENSP00000344400:P715H	P	-	2	0	0	TNC	116884895	116884895	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.776000	0.95493	0.655000	0.94253	CCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-2.920859	1	0.170000	NM_002160			25	24		226	223	0		1	0	1	0	0	53	717		9.999999e-01	9.999926e-01	1	0	78	176	717	25	226
TNC	3371	broad.mit.edu	37	9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000350763.4	-	4	2517	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	702	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)			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						CGCTGACAGGAATGCTCTTCT	0.577																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				120						c.(2104-2106)atT>atG		tenascin C							90.0	84.0	86.0					9																	117846513		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117846513A>C		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.2106T>G	chr9.hg19:g.117846513A>C	ENSP00000265131:p.Ile702Met	0					TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000537320.1_Missense_Mutation_p.I702M	p.I702M	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		4	2517	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.2106T>G	CCDS6811.1	1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399001	0.62177	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53857	3.62;0.6;3.62;0.6;0.6;0.6;0.6;0.6;0.6	5.93	0.837	0.18896	5.93	0.837	0.18896	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148317	0.64402	D	0.000010	T	0.64692	0.2621	M	0.63428	1.95	0.47308	D	0.999389	D;D	0.71674	0.998;0.996	D;D	0.76575	0.988;0.988	T	0.63492	-0.6625	10	0.62326	D	0.03	.	10.121	0.42621	0.6001:0.0:0.3999:0.0	.	702;702	E9PC84;P24821	.;TENA_HUMAN	M	702	ENSP00000344400:I702M;ENSP00000438152:I702M;ENSP00000344555:I702M;ENSP00000345861:I702M;ENSP00000265131:I702M;ENSP00000339553:I702M;ENSP00000411406:I702M;ENSP00000443478:I702M;ENSP00000442242:I702M	ENSP00000344400:I702M	I	-	3	3	3	TNC	116886334	116886334	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.856000	0.27818	0.146000	0.19002	0.533000	0.62120	ATT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_002160			59	58		313	305	1		1	0	1	0	0	100	445		1	1	1	0	77	143	344	59	313
TNC	3371	broad.mit.edu	37	9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000350763.4	-	4	2368	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	653	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)			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						TACACGACAAGGTACTCTGTG	0.582																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				120						c.(1957-1959)Ctt>Ttt		tenascin C							153.0	140.0	145.0					9																	117846662		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117846662G>A		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.1957C>T	chr9.hg19:g.117846662G>A	ENSP00000265131:p.Leu653Phe	0					TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000537320.1_Missense_Mutation_p.L653F	p.L653F	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		4	2368	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.1957C>T	CCDS6811.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180407	0.78677	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	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	5.93	5.93	0.95920	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057231	0.64402	D	0.000001	T	0.75451	0.3851	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75357	-0.3346	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	653;653	E9PC84;P24821	.;TENA_HUMAN	F	653	ENSP00000344400:L653F;ENSP00000438152:L653F;ENSP00000344555:L653F;ENSP00000345861:L653F;ENSP00000265131:L653F;ENSP00000339553:L653F;ENSP00000411406:L653F;ENSP00000443478:L653F;ENSP00000442242:L653F	ENSP00000344400:L653F	L	-	1	0	0	TNC	116886483	116886483	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.286000	0.65639	2.810000	0.96702	0.655000	0.94253	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	73		73	71	1	2.060000	-3.240166	1	0.170000	NM_002160			54	53		280	278	1		1	0	1	0	0	73	1207		1	1	1	0	234	190	1077	54	280
TNC	3371	broad.mit.edu	37	9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000350763.4	-	3	2019	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	536	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			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						CCTGGCCATGGCAGTCATTTG	0.582																																						ENST00000350763.4	0.970000	0.390000	8.200000e-01	5.100000e-01	0.650000	0.671367	0.650000	1.000000																										0				120						c.(1606-1608)tgC>tgA		tenascin C							82.0	65.0	71.0					9																	117848402		2203	4300	6503	SO:0001587	stop_gained	3371	0	0					g.chr9:117848402G>T		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.1608C>A	chr9.hg19:g.117848402G>T	ENSP00000265131:p.Cys536*	0					TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*	p.C536*	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		3	2019	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	0	1	hg19	c.1608C>A	CCDS6811.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.851648	0.98525	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5669	0.61824	0.0709:0.0:0.9291:0.0	.	.	.	.	X	536	.	ENSP00000344400:C536X	C	-	3	2	2	TNC	116888223	116888223	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.341000	0.43983	2.822000	0.97130	0.563000	0.77884	TGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-19.441770	1	0.170000	NM_002160			17	17		281	272	0		1	0	1	0	0	50	981		9.999596e-01	9.931702e-01	1	0	78	136	1053	17	281
TNC	3371	broad.mit.edu	37	9	117848462	117848462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000350763.4	-	3	1959	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	516	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			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						CCTCACAGACGCACTGTCCGT	0.612																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(1546-1548)tgC>tgT		tenascin C							89.0	78.0	82.0					9																	117848462		2203	4300	6503	SO:0001819	synonymous_variant	3371	0	0					g.chr9:117848462G>A		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.1548C>T	chr9.hg19:g.117848462G>A		0					TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000537320.1_Silent_p.C516C	p.C516C	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		3	1959	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	1	1	hg19	c.1548C>T	CCDS6811.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	0		2	2	2	0		0	0	75		75	73	1	2.060000	-20.000000	1	0.170000	NM_002160			76	76		376	370	1		1	0	1	0	0	75	649		1	1	1	0	161	144	656	76	376
FOXD4	2298	broad.mit.edu	37	9	118009	118009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	37					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTCCTCCTCGTCTTCATCTT	0.662																																						ENST00000382500.2			0	0																														0				14						c.(109-111)gaC>gaT		forkhead box D4							44.0	59.0	54.0					9																	118009		2203	4300	6503	SO:0001819	synonymous_variant	2298	0	0					g.chr9:118009G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.111C>T	chr9.hg19:g.118009G>A								p.D37D	NM_207305.4	NP_997188.2					Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	1	408	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	1	1	hg19	c.111C>T	CCDS34975.1																																																																																											TCGA-IB-7651-01A-11D-2154-08	0.662	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	1	0	1		2	2	2	0		0	0	75		75	79	1	2.060000	-20.000000	1	0.170000	NM_207305			100	93		514	463	0		1			0	0	75	0		1	0	0	0	0	0	0	100	514
TNC	3371	broad.mit.edu	37	9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000350763.4	-	3	1232	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	274	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			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						ATCGCCTGCAAAGCCATCGTG	0.577																																						ENST00000350763.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(820-822)tTt>tGt		tenascin C							175.0	127.0	143.0					9																	117849189		2203	4300	6503	SO:0001583	missense	3371	0	0					g.chr9:117849189A>C		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.821T>G	chr9.hg19:g.117849189A>C	ENSP00000265131:p.Phe274Cys	0					TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000537320.1_Missense_Mutation_p.F274C	p.F274C	NM_002160.3	NP_002151.2	0	0	0	1.941936	P24821	TENA_HUMAN		3	1232	-			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	1	1	hg19	c.821T>G	CCDS6811.1	1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549785	0.27652	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;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;2.49	5.13	3.99	0.46301	5.13	3.99	0.46301	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.150285	0.64402	D	0.000009	T	0.37945	0.1022	M	0.83012	2.62	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24799	-1.0150	10	0.87932	D	0	.	10.3736	0.44068	0.9228:0.0:0.0772:0.0	.	274;274	E9PC84;P24821	.;TENA_HUMAN	C	274	ENSP00000344400:F274C;ENSP00000438152:F274C;ENSP00000344555:F274C;ENSP00000345861:F274C;ENSP00000265131:F274C;ENSP00000339553:F274C;ENSP00000411406:F274C;ENSP00000443478:F274C;ENSP00000442242:F274C	ENSP00000344400:F274C	F	-	2	0	0	TNC	116889010	116889010	0.991000	0.36638	0.873000	0.34254	0.049000	0.14656	3.069000	0.50026	1.075000	0.40932	0.460000	0.39030	TTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_002160			81	81		438	433	1		1	0	1	0	0	95	971		1	9.999917e-01	1	0	173	92	800	81	438
PAPPA	5069	broad.mit.edu	37	9	118950319	118950319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	434	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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						CGCTGACGGGCCACGACGGCG	0.607																																						ENST00000328252.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999802	0.990000	1.000000																										0				98						c.(1300-1302)ggC>ggT		pregnancy-associated plasma protein A, pappalysin 1							65.0	52.0	56.0					9																	118950319		2203	4300	6503	SO:0001819	synonymous_variant	5069	0	0					g.chr9:118950319C>T		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.1302C>T	chr9.hg19:g.118950319C>T		0					PAPPA_ENST00000534838.1_5'Flank	p.G434G	NM_002581.3	NP_002572.2	0	0	0	1.941936	Q13219	PAPP1_HUMAN		2	1671	+			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	1	1	hg19	c.1302C>T	CCDS6813.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-3.321778	1	0.170000	NM_002581			37	35		227	225	1		1	0		0	0	51	0		1	5.637143e-02	0	0	0	3	0	37	227
PAPPA	5069	broad.mit.edu	37	9	119093522	119093522	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						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)			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						TATTTTTCCAGGTGTGTCGAA	0.403																																						ENST00000328252.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				98						c.e11-1		pregnancy-associated plasma protein A, pappalysin 1							72.0	70.0	71.0					9																	119093522		2203	4300	6503	SO:0001630	splice_region_variant	5069	0	0					g.chr9:119093522G>A		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.3148-1G>A	chr9.hg19:g.119093522G>A		0					PAPPA_ENST00000534838.1_Splice_Site		NM_002581.3	NP_002572.2	0	0	0	1.941936	Q13219	PAPP1_HUMAN		11	3516	+			B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	ENST00000328252.3	1	1	hg19		CCDS6813.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644489	0.87859	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	6.06	0.98353	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PAPPA	118133343	118133343	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.079000	0.89508	2.882000	0.98803	0.655000	0.94253	.	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.686617	1	0.170000	NM_002581	Intron		51	51		179	176	0		1			0	0	46	0		1	0	0	0	0	0	0	51	179
PAPPA	5069	broad.mit.edu	37	9	119158837	119158838	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837_119158838GG>AA	ENST00000328252.3	+	22	5195_5196	c.4826_4827GG>AA	c.(4825-4827)cGG>cAA	p.R1609Q	PAPPA_ENST00000483254.1_3'UTR|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					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)			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						TGTGCTTGTCGGGACCCCCAGG	0.52																																						ENST00000328252.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				98						c.(4825-4827)cGg>cAg|c.(4825-4827)cgG>cgA		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001583	missense	5069	1|0	121412|0	26|				g.chr9:119158837G>A|g.chr9:119158838G>A		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	Exception_encountered	chr9.hg19:g.119158837_119158838delinsAA	ENSP00000330658:p.Arg1609Gln	0					PAPPA_ENST00000483254.1_3'UTR|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|PAPPA_ENST00000483254.1_3'UTR|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000534838.1_Silent_p.R647R	p.R1609Q|p.R1609R	NM_002581.3	NP_002572.2	0	0	0	1.941936	Q13219	PAPP1_HUMAN		22	5195|5196	+			B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation|Silent	SNP	ENST00000328252.3	1	1	hg19	c.4826G>A|c.4827G>A	CCDS6813.1	1																									5.61|	4.7|	0.59300|																																												0|			118198658|														1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.520	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1		2	2	2	0		0	0	161		163|161	162|159	1	2.060000	-2.416202|-3.142871	0|1	0.170000	NM_002581			120|115	119|115		646|641	636|632	1		1	0		0	0	163|161	0		1	7.694796e-01|7.528459e-01	0	0	0	17	0	115	641
TRIM32	22954	broad.mit.edu	37	9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	388					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1162-1164)Gct>Act		tripartite motif containing 32							79.0	80.0	80.0					9																	119461183		2203	4300	6503	SO:0001583	missense	22954	0	0					g.chr9:119461183G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1162G>A	chr9.hg19:g.119461183G>A	ENSP00000408292:p.Ala388Thr	0					ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000361477.3_Intron	p.A388T	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	0	0	0	1.941936	Q13049	TRI32_HUMAN		2	1323	+			Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	1	1	hg19	c.1162G>A	CCDS6817.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076522	0.76415	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.75154	-0.91;-0.91	5.32	5.32	0.75619	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81829	-0.0753	9	.	.	.	-10.9153	19.0043	0.92844	0.0:0.0:1.0:0.0	.	388	Q13049	TRI32_HUMAN	T	388	ENSP00000408292:A388T;ENSP00000363095:A388T	.	A	+	1	0	0	TRIM32	118501004	118501004	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	9.434000	0.97515	2.481000	0.83766	0.650000	0.86243	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	0	0	0		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_012210			110	109		480	475	1		1	1		0	0	110	0		1	9.995314e-01	0	12	0	39	0	110	480
TRIM32	22954	broad.mit.edu	37	9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	411					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1231-1233)cCc>cTc		tripartite motif containing 32							109.0	116.0	114.0					9																	119461253		2203	4300	6503	SO:0001583	missense	22954	0	0					g.chr9:119461253C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1232C>T	chr9.hg19:g.119461253C>T	ENSP00000408292:p.Pro411Leu	0					ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000361477.3_Intron	p.P411L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	0	0	0	1.941936	Q13049	TRI32_HUMAN		2	1393	+			Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	1	1	hg19	c.1232C>T	CCDS6817.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843637	0.51164	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.91295	-2.82;-2.82	5.47	5.47	0.80525	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.145392	0.46442	D	0.000287	D	0.84329	0.5448	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78513	-0.2175	9	.	.	.	-12.8032	19.3288	0.94275	0.0:1.0:0.0:0.0	.	411	Q13049	TRI32_HUMAN	L	411	ENSP00000408292:P411L;ENSP00000363095:P411L	.	P	+	2	0	0	TRIM32	118501074	118501074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.551000	0.86045	0.650000	0.86243	CCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-3.605859	1	0.170000	NM_012210			192	189		737	727	1		1	1		0	0	202	0		1	9.938882e-01	0	7	0	25	0	192	737
ASTN2	23245	broad.mit.edu	37	9	119737600	119737600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000313400.4	-	10	1876	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.G588G			O75129	ASTN2_HUMAN	astrotactin 2	592					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						GAAGCCAGAGGCCTTGGCCCA	0.557																																						ENST00000313400.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				102						c.(1774-1776)ggC>ggT		astrotactin 2							67.0	64.0	65.0					9																	119737600		2203	4300	6503	SO:0001819	synonymous_variant	23245	0	0					g.chr9:119737600G>A	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.1776C>T	chr9.hg19:g.119737600G>A		0					ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR	p.G592G			0	0	0	1.941936	O75129	ASTN2_HUMAN		10	1876	-			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	1	1	hg19	c.1776C>T		1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-20.000000	1	0.170000	NM_014010			53	52		231	229	0		1	0		0	0	63	0		1	0	0	0	0	1	0	53	231
ASTN2	23245	broad.mit.edu	37	9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000313400.4	-	6	1470	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y			O75129	ASTN2_HUMAN	astrotactin 2	457					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						AGTGAGTGGACAAGACATCTG	0.537																																						ENST00000313400.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999954	0.990000	1.000000																										0				102						c.(1369-1371)tGt>tAt		astrotactin 2							113.0	90.0	97.0					9																	119802151		2203	4300	6503	SO:0001583	missense	23245	0	0					g.chr9:119802151C>T	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.1370G>A	chr9.hg19:g.119802151C>T	ENSP00000314038:p.Cys457Tyr	0					ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR	p.C457Y			0	0	0	1.941936	O75129	ASTN2_HUMAN		6	1470	-			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	1	1	hg19	c.1370G>A		1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873619	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.45;2.45;2.31;2.49	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.113047	0.64402	D	0.000008	T	0.33876	0.0878	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.00731	-1.1590	9	.	.	.	-13.2905	20.3138	0.98647	0.0:1.0:0.0:0.0	.	406;457;457	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	457;457;184;406	ENSP00000314038:C457Y;ENSP00000363108:C457Y;ENSP00000363098:C184Y;ENSP00000354504:C406Y	.	C	-	2	0	0	ASTN2	118841972	118841972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.459000	0.80802	2.814000	0.96858	0.585000	0.79938	TGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_014010			27	26		117	113	1		1			0	0	38	0		1	0	0	0	0	0	0	27	117
TLR4	7099	broad.mit.edu	37	9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000394487.4_Missense_Mutation_p.V219A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	259					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)			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)	CATCGTTTGGTTCTGGGAGAA	0.353																																						ENST00000355622.6	0.500000	0.200000	4.200000e-01	2.600000e-01	0.330000	0.347930	0.330000	0.330000																										0				103						c.(775-777)gTt>gCt		toll-like receptor 4	Naloxone(DB01183)						76.0	84.0	81.0					9																	120475182		2203	4300	6503	SO:0001583	missense	7099	0	0					g.chr9:120475182T>C	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.776T>C	chr9.hg19:g.120475182T>C	ENSP00000363089:p.Val259Ala	0					TLR4_ENST00000394487.4_Missense_Mutation_p.V219A|TLR4_ENST00000472304.1_3'UTR	p.V259A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	0	0	0	1.941936	O00206	TLR4_HUMAN		3	877	+			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	1	1	hg19	c.776T>C	CCDS6818.1	0	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965554	0.34659	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.47;1.21	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.285150	0.30285	N	0.009963	T	0.40145	0.1105	M	0.72118	2.19	0.09310	N	1	B	0.32893	0.389	B	0.31390	0.129	T	0.46428	-0.9192	10	0.72032	D	0.01	.	14.2982	0.66329	0.0:0.0:0.0:1.0	.	259	O00206	TLR4_HUMAN	A	219;259	ENSP00000377997:V219A;ENSP00000363089:V259A	ENSP00000363089:V259A	V	+	2	0	0	TLR4	119515003	119515003	0.999000	0.42202	0.527000	0.27925	0.514000	0.34195	4.087000	0.57671	2.120000	0.65058	0.533000	0.62120	GTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	0	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-15.731250	1	0.170000	NM_138554			19	19		631	619	0		1	0		0	0	118	0		9.999889e-01	3.992588e-01	0	0	0	45	0	19	631
CDK5RAP2	55755	broad.mit.edu	37	9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1015	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			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						TGGTAGGCTGCTCCCACAGGG	0.453																																						ENST00000349780.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(3043-3045)Gca>Aca		CDK5 regulatory subunit associated protein 2							124.0	113.0	117.0					9																	123206003		2203	4300	6503	SO:0001583	missense	55755	0	0					g.chr9:123206003C>T	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.3043G>A	chr9.hg19:g.123206003C>T	ENSP00000343818:p.Ala1015Thr	0					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000359309.3_Intron	p.A1015T	NM_018249.4	NP_060719.4	0	0	0	1.941936	Q96SN8	CK5P2_HUMAN		23	3222	-			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	1	1	hg19	c.3043G>A	CCDS6823.1	1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344123	0.05208	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19669	3.8;3.81;3.71;2.13	4.71	-4.33	0.03677	4.71	-4.33	0.03677	.	1.501350	0.03992	N	0.295015	T	0.10165	0.0249	N	0.11560	0.145	0.25863	N	0.983799	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.003	T	0.27365	-1.0076	10	0.33141	T	0.24	.	5.7024	0.17889	0.0:0.2131:0.4026:0.3843	.	784;983;1015;1015;409	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	T	983;1015;1015;409;787	ENSP00000354065:A983T;ENSP00000343818:A1015T;ENSP00000353317:A1015T;ENSP00000400395:A409T	ENSP00000341695:A787T	A	-	1	0	0	CDK5RAP2	122245824	122245824	0.212000	0.23540	0.113000	0.21522	0.317000	0.28152	-0.748000	0.04818	-0.899000	0.03901	-0.371000	0.07208	GCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_018249			75	74		415	407	1		1	1		0	0	90	0		1	9.998363e-01	0	23	0	49	0	75	415
CDK5RAP2	55755	broad.mit.edu	37	9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	471					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)			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						ATTGTGCAATTTTTTATTGCT	0.323																																						ENST00000349780.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(1411-1413)aAa>aCa		CDK5 regulatory subunit associated protein 2							203.0	180.0	187.0					9																	123253655		2203	4300	6503	SO:0001583	missense	55755	0	0					g.chr9:123253655T>G	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.1412A>C	chr9.hg19:g.123253655T>G	ENSP00000343818:p.Lys471Thr	0					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T	p.K471T	NM_018249.4	NP_060719.4	0	0	0	1.941936	Q96SN8	CK5P2_HUMAN		13	1591	-			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	1	1	hg19	c.1412A>C	CCDS6823.1	1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270117	0.23221	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.59	0.56863	5.76	4.59	0.56863	.	0.397699	0.24240	N	0.040267	T	0.53706	0.1813	M	0.64997	1.995	0.09310	N	0.999992	D;D;P;D	0.56746	0.977;0.977;0.837;0.961	P;P;B;P	0.53593	0.73;0.656;0.373;0.541	T	0.45963	-0.9225	10	0.22109	T	0.4	.	10.8935	0.47008	0.1401:0.0:0.0:0.8599	.	272;471;471;471	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	471;471;471;471;473	ENSP00000354065:K471T;ENSP00000352258:K471T;ENSP00000343818:K471T;ENSP00000353317:K471T	ENSP00000341695:K473T	K	-	2	0	0	CDK5RAP2	122293476	122293476	0.842000	0.29525	0.005000	0.12908	0.050000	0.14768	3.341000	0.52151	0.965000	0.38133	0.528000	0.53228	AAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	1	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_018249			54	52		195	190	1		1	1		0	0	60	0		1	1	0	34	0	66	0	54	195
MEGF9	1955	broad.mit.edu	37	9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428																																						ENST00000373930.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999562	0.990000	1.000000																										0				16						c.(916-918)Cgg>Tgg		multiple EGF-like-domains 9							98.0	99.0	99.0					9																	123384921		1977	4168	6145	SO:0001583	missense	1955	1	120912	38				g.chr9:123384921G>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.916C>T	chr9.hg19:g.123384921G>A	ENSP00000363040:p.Arg306Trp	0					MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	p.R306W	NM_001080497.2	NP_001073966.2	0	0	0	1.941936	Q9H1U4	MEGF9_HUMAN		3	1027	-			B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	1	1	hg19	c.916C>T	CCDS48010.2	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004313	0.93287	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.99	5.99	0.97316	5.99	5.99	0.97316	.	0.135560	0.49916	D	0.000131	T	0.79161	0.4399	M	0.71871	2.18	0.45634	D	0.998565	D	0.89917	1.0	D	0.74348	0.983	T	0.78947	-0.2003	10	0.59425	D	0.04	-3.4395	18.6582	0.91462	0.0:0.0:1.0:0.0	.	343	C9J1K8	.	W	306;343	ENSP00000363040:R306W;ENSP00000392666:R343W	ENSP00000363040:R306W	R	-	1	2	2	MEGF9	122424742	122424742	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.816000	0.62642	2.840000	0.97914	0.655000	0.94253	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	1	0	1		2	2	2	0		0	0	45		45	40	1	2.060000	-3.230200	1	0.170000	NM_001080497			30	30		180	166	1		1	1		0	0	45	0		1	9.834743e-01	0	6	0	36	0	30	180
FBXW2	26190	broad.mit.edu	37	9	123538497	123538497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Silent_p.S166S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	231					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378																																						ENST00000608872.1	1.000000	0.630000	1	7.400000e-01	0.880000	0.875028	0.880000	1.000000																										0				4						c.(691-693)agC>agT		F-box and WD repeat domain containing 2							103.0	103.0	103.0					9																	123538497		2031	4194	6225	SO:0001819	synonymous_variant	26190	0	0					g.chr9:123538497G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.693C>T	chr9.hg19:g.123538497G>A		0					FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Silent_p.S166S	p.S231S	NM_012164.3	NP_036296.2	0	0	0	1.941936	Q9UKT8	FBXW2_HUMAN		5	880	-			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	1	1	hg19	c.693C>T	CCDS43872.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-9.306853	1	0.170000				35	35		417	409	0		1	1		0	0	88	0		1	9.999503e-01	0	14	0	165	0	35	417
C5	727	broad.mit.edu	37	9	123751958	123751958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1014					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)			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)	CTGGGACAACGCTCATCAGCT	0.433																																						ENST00000223642.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(3040-3042)agC>agT		complement component 5	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)						79.0	76.0	77.0					9																	123751958		2203	4300	6503	SO:0001819	synonymous_variant	727	0	0					g.chr9:123751958G>A	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.3042C>T	chr9.hg19:g.123751958G>A		0						p.S1014S	NM_001735.2	NP_001726.2	0	0	0	1.941936	P01031	CO5_HUMAN		24	3071	-			Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	1	1	hg19	c.3042C>T	CCDS6826.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	0	0	1		16	3	2	1		1	1	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_001735			54	53		195	192	1		1	1		1	0	51	0		9.999998e-01	6.152612e-01	0	7	0	7	0	54	195
C5	727	broad.mit.edu	37	9	123753544	123753544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123753544G>A	ENST00000223642.1	-	23	2895	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*		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)			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)	AACTCCTTTCGTCTGCTAATG	0.333																																						ENST00000223642.1	0.660000	0.280000	5.600000e-01	3.600000e-01	0.450000	0.467684	0.450000	0.440000																										0				46						c.(2866-2868)Cga>Tga		complement component 5	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)						121.0	122.0	122.0					9																	123753544		2203	4300	6503	SO:0001587	stop_gained	727	0	0					g.chr9:123753544G>A	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.2866C>T	chr9.hg19:g.123753544G>A	ENSP00000223642:p.Arg956*	0						p.R956*	NM_001735.2	NP_001726.2	0	0	0	1.941936	P01031	CO5_HUMAN		23	2895	-			Q14CJ0|Q27I61	Nonsense_Mutation	SNP	ENST00000223642.1	0	1	hg19	c.2866C>T	CCDS6826.1	0	.	.	.	.	.	.	.	.	.	.	G	40	8.235985	0.98719	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.7	2.66	0.31614	5.7	2.66	0.31614	.	3.841640	0.00748	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6768	0.56899	0.0:0.0:0.5713:0.4287	.	.	.	.	X	956;1027	.	ENSP00000223642:R956X	R	-	1	2	2	C5	122793365	122793365	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.609000	0.36858	0.705000	0.31890	0.655000	0.94253	CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	0	0	1		2	2	2	0		0	0	96		96	95	1	2.060000	-3.893256	1	0.170000	NM_001735			20	20		486	481	0		1	0		0	0	96	0		9.999949e-01	1.277754e-01	0	0	0	15	0	20	486
GSN	2934	broad.mit.edu	37	9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373818.4	+	9	1372	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000373823.3_Missense_Mutation_p.A384T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	435	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637																																						ENST00000373818.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1303-1305)Gcc>Acc		gelsolin							69.0	60.0	63.0					9																	124081117		2203	4300	6503	SO:0001583	missense	2934	0	0					g.chr9:124081117G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1303G>A	chr9.hg19:g.124081117G>A	ENSP00000362924:p.Ala435Thr	0					GSN_ENST00000545652.1_Missense_Mutation_p.A392T|GSN_ENST00000373823.3_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T	p.A435T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	0	0	0	1.941936	P06396	GELS_HUMAN		9	1372	+			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	1	1	hg19	c.1303G>A	CCDS6828.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.501356	0.96371	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;0.963;1.0;0.997	P;P;B;D;P	0.81914	0.587;0.783;0.246;0.995;0.706	T	0.55573	-0.8120	10	0.54805	T	0.06	-29.0535	18.9865	0.92773	0.0:0.0:1.0:0.0	.	408;392;395;166;435	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	T	384;395;395;384;384;384;384;368;358;392;435;166	ENSP00000362929:A384T;ENSP00000411293:A395T;ENSP00000377882:A395T;ENSP00000409358:A384T;ENSP00000416586:A384T;ENSP00000340888:A384T;ENSP00000362914:A384T;ENSP00000445823:A392T;ENSP00000362924:A435T;ENSP00000362913:A166T	ENSP00000340888:A384T	A	+	1	0	0	GSN	123120938	123120938	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	9.301000	0.96167	2.724000	0.93272	0.561000	0.74099	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-3.741200	1	0.170000	NM_000177			98	97		365	360	1		1	1		0	0	96	0		1	1	0	132	0	1542	0	98	365
GSN	2934	broad.mit.edu	37	9	124091191	124091191	+	Silent	SNP	C	C	T	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373818.4	+	14	2007	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000545652.1_Silent_p.G603G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000373823.3_Silent_p.G595G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	646	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGCCCTGGGCGGGAAGGCTG	0.622																																						ENST00000373818.4	1.000000	0.370000	8.300000e-01	5.000000e-01	0.650000	0.670059	0.650000	1.000000																										0				21						c.(1936-1938)ggC>ggT		gelsolin		C	,,,,,,,	0,4406		0,0,2203	63.0	58.0	60.0		1938,1785,1785,1785,1785,1818,1818,1785	-0.3	1.0	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,	646/783,595/732,595/732,595/732,595/732,606/743,606/743,595/732	124091191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2934	7	121412	38				g.chr9:124091191C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1938C>T	chr9.hg19:g.124091191C>T		0					GSN_ENST00000545652.1_Silent_p.G603G|GSN_ENST00000373823.3_Silent_p.G595G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000412819.1_Silent_p.G595G	p.G646G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	0	0	0	1.941936	P06396	GELS_HUMAN		14	2007	+			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	1	1	hg19	c.1938C>T	CCDS6828.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-16.891540	1	0.170000	NM_000177			14	14		233	229	0		1	1		0	0	44	0		9.997521e-01	1	0	16	0	1552	0	14	233
STOM	2040	broad.mit.edu	37	9	124111572	124111572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000538954.1_Silent_p.S66S|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	117					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)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418																																						ENST00000286713.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				6						c.(349-351)agC>agT		stomatin							159.0	136.0	144.0					9																	124111572		2203	4300	6503	SO:0001819	synonymous_variant	2040	2	121412	38				g.chr9:124111572G>A		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.351C>T	chr9.hg19:g.124111572G>A		0					STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	p.S117S	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	0	0	0	1.941936	P27105	STOM_HUMAN		5	368	-			B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Silent	SNP	ENST00000286713.2	1	1	hg19	c.351C>T	CCDS6830.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-19.982870	1	0.170000	NM_004099			43	43		234	233	1		1	1		0	0	74	0		1	1	0	23	0	428	0	43	234
DAB2IP	153090	broad.mit.edu	37	9	124522508	124522508	+	Silent	SNP	C	C	T	rs570908203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000259371.2_Silent_p.G292G|DAB2IP_ENST00000309989.1_Silent_p.G196G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	320					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622																																						ENST00000408936.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999949	0.990000	1.000000																										0				27						c.(958-960)ggC>ggT		DAB2 interacting protein							74.0	60.0	65.0					9																	124522508		2203	4300	6503	SO:0001819	synonymous_variant	153090	20	121410	41				g.chr9:124522508C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.960C>T	chr9.hg19:g.124522508C>T		0					DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G	p.G320G			0	0	0	1.941936	Q5VWQ8	DAB2P_HUMAN		6	1142	+			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	1	1	hg19	c.960C>T		1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-3.331747	1	0.170000	NM_032552			38	38		212	210	1		1	1		0	0	52	0		1	9.999999e-01	0	55	0	93	0	38	212
TTLL11	158135	broad.mit.edu	37	9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T	rs375201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000373776.3	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.0					ENST00000373776.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1075-1077)cGc>cAc		tubulin tyrosine ligase-like family, member 11		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	101.0	99.0		1076,1076	5.1	1.0	9		99	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TTLL11	NM_001139442.1,NM_194252.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	359/801,359/539	124751937	3,13003	2203	4300	6503	SO:0001583	missense	158135	14	121412	44				g.chr9:124751937C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1076G>A	chr9.hg19:g.124751937C>T	ENSP00000362881:p.Arg359His	0					TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	p.R359H	NM_194252.2	NP_919228.2	0	0	0	1.941936	Q8NHH1	TTL11_HUMAN		4	1263	-				Missense_Mutation	SNP	ENST00000373776.3	1	1	hg19	c.1076G>A	CCDS6834.2	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037292	0.75617	2.27E-4	2.33E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05513	3.43;3.43	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.073650	0.50627	D	0.000112	T	0.11495	0.0280	L	0.51422	1.61	0.53688	D	0.999979	P;P	0.49090	0.868;0.919	B;P	0.45681	0.294;0.49	T	0.01743	-1.1283	10	0.51188	T	0.08	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	359	ENSP00000321346:R359H;ENSP00000362881:R359H	ENSP00000321346:R359H	R	-	2	0	0	TTLL11	123791758	123791758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.584000	0.60971	2.391000	0.81399	0.555000	0.69702	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	1	0	1		2	2	2	0		0	0	128		128	123	1	2.060000	-20.000000	1	0.170000	XM_088486			113	113		549	538	1		1	0		0	0	128	0		1	6.781121e-01	0	1	0	12	0	113	549
NDUFA8	4702	broad.mit.edu	37	9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000373768.3	-	2	224	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	28					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 intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						GTGATGGGCCGCAGCTTTAAG	0.478																																						ENST00000373768.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				9						c.(82-84)gCg>gTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa							60.0	52.0	55.0					9																	124914656		2203	4300	6503	SO:0001583	missense	4702	2	121412	33				g.chr9:124914656G>A	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.83C>T	chr9.hg19:g.124914656G>A	ENSP00000362873:p.Ala28Val	0					NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	p.A28V	NM_014222.2	NP_055037.1	0	0	0	1.941936	P51970	NDUA8_HUMAN		2	224	-			B1AM93|Q9Y6N0	Missense_Mutation	SNP	ENST00000373768.3	1	1	hg19	c.83C>T	CCDS6835.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428595	0.83667	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.84730	-1.19;-1.89	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.91538	0.5247	10	0.51188	T	0.08	-19.6724	15.7391	0.77870	0.0:0.0:1.0:0.0	.	28	P51970	NDUA8_HUMAN	V	28	ENSP00000442247:A28V;ENSP00000362873:A28V	ENSP00000362873:A28V	A	-	2	0	0	NDUFA8	123954477	123954477	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	8.846000	0.92159	2.310000	0.77875	0.643000	0.83706	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-3.180150	1	0.170000	NM_014222			38	38		162	158	1		1	1		0	0	45	0		1	1	0	84	0	241	0	38	162
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000373755.2	-	4	552	c.444C>T	c.(442-444)cgC>cgT	p.R148R	LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000394319.4_Silent_p.R177R|LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667																																						ENST00000373755.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(442-444)cgC>cgT		LIM homeobox 6							59.0	56.0	57.0					9																	124979498		2203	4300	6503	SO:0001819	synonymous_variant	26468	0	0					g.chr9:124979498G>A	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.444C>T	chr9.hg19:g.124979498G>A		0					LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000394319.4_Silent_p.R177R|LHX6_ENST00000340587.3_Silent_p.R177R	p.R148R	NM_001242334.1	NP_001229263.1	0	0	0	1.941936	Q9UPM6	LHX6_HUMAN		4	552	-			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	1	1	hg19	c.444C>T	CCDS56583.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_014368			69	69		323	319	1		1	0		0	0	49	0		1	7.332973e-01	0	0	0	14	0	69	323
PTGS1	5742	broad.mit.edu	37	9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	375					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCGCAACCGCATTGCCATG	0.537																																						ENST00000362012.2	0.580000	0.310000	5.100000e-01	3.600000e-01	0.430000	0.442799	0.430000	0.440000																										0				8						c.(1123-1125)cGc>cAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)						220.0	207.0	211.0					9																	125148839		2203	4300	6503	SO:0001583	missense	5742	0	0					g.chr9:125148839G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1124G>A	chr9.hg19:g.125148839G>A	ENSP00000354612:p.Arg375His	0					PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron	p.R375H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	0	0	0	1.941936	P23219	PGH1_HUMAN		9	1129	+			A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	1	1	hg19	c.1124G>A	CCDS6842.1	0	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361091	0.82353	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.36	3.45	0.39498	5.36	3.45	0.39498	.	0.048924	0.85682	D	0.000000	T	0.77818	0.4187	M	0.92555	3.32	0.80722	D	1	P;P;P	0.50710	0.772;0.938;0.855	P;P;P	0.49683	0.458;0.619;0.505	T	0.82285	-0.0533	10	0.87932	D	0	-22.6171	10.3217	0.43769	0.0749:0.1341:0.7911:0.0	.	350;375;375	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	350;375;375;266	ENSP00000437709:R350H;ENSP00000354612:R375H;ENSP00000223423:R375H;ENSP00000362802:R266H	ENSP00000223423:R375H	R	+	2	0	0	PTGS1	124188660	124188660	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.708000	0.84633	1.217000	0.43442	0.563000	0.77884	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1	0	0	1		2	2	2	0		0	0	186		186	183	1	2.060000	-2.832219	1	0.170000				39	39		987	974	0		1	0		0	0	186	0		1	7.376323e-01	0	0	0	68	0	39	987
OR1J2	26740	broad.mit.edu	37	9	125273896	125273896	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478																																						ENST00000335302.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(814-816)gtC>gtA		olfactory receptor, family 1, subfamily J, member 2							195.0	175.0	182.0					9																	125273896		2203	4300	6503	SO:0001819	synonymous_variant	26740	0	0					g.chr9:125273896C>A		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.816C>A	chr9.hg19:g.125273896C>A		0						p.V272V	NM_054107.1	NP_473448.1	0	0	0	1.941936	Q8NGS2	OR1J2_HUMAN		1	816	+			A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	1	1	hg19	c.816C>A	CCDS35121.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1	1	0	1		2	2	2	0		0	0	150		150	148	1	2.060000	-20.000000	1	0.170000				110	108		640	630	1		1			0	0	150	0		1	0	0	0	0	0	0	110	640
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473																																						ENST00000373688.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(808-810)gGg>gAg		olfactory receptor, family 1, subfamily N, member 2							227.0	230.0	229.0					9																	125316257		2203	4300	6503	SO:0001583	missense	138882	0	0					g.chr9:125316257G>A		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.809G>A	chr9.hg19:g.125316257G>A	ENSP00000362792:p.Gly270Glu	0						p.G270E	NM_001004457.1	NP_001004457.1	0	0	0	1.941936	Q8NGR9	OR1N2_HUMAN		1	867	+			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	1	1	hg19	c.809G>A	CCDS35123.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511782	0.44660	.	.	ENSG00000171501	ENST00000373688	T	0.39056	1.1	4.56	3.66	0.41972	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.73321	0.3572	H	0.96489	3.83	0.09310	N	1	D	0.61697	0.99	D	0.74348	0.983	T	0.70543	-0.4843	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	E	270	ENSP00000362792:G270E	ENSP00000362792:G270E	G	+	2	0	0	OR1N2	124356078	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-3.385352	1	0.170000				118	118		498	487	1		1		1	0	0	103	478		1	0	1	0	90	0	363	118	498
OR1L8	138881	broad.mit.edu	37	9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453																																						ENST00000304865.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(853-855)Ctc>Atc		olfactory receptor, family 1, subfamily L, member 8							102.0	101.0	101.0					9																	125329904		2203	4300	6503	SO:0001583	missense	138881	0	0					g.chr9:125329904G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.853C>A	chr9.hg19:g.125329904G>T	ENSP00000306607:p.Leu285Ile	0						p.L285I	NM_001004454.1	NP_001004454.1	0	0	0	1.941936	Q8NGR8	OR1L8_HUMAN		1	934	-			A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	1	1	hg19	c.853C>A	CCDS35124.1	1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326989	0.60743	.	.	ENSG00000171496	ENST00000304865	T	0.44083	0.93	4.64	0.718	0.18202	4.64	0.718	0.18202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002482	T	0.60689	0.2288	M	0.87456	2.885	0.26209	N	0.979325	D	0.69078	0.997	P	0.62491	0.903	T	0.55166	-0.8183	10	0.87932	D	0	-11.3452	9.2539	0.37571	0.3358:0.0:0.6642:0.0	.	285	Q8NGR8	OR1L8_HUMAN	I	285	ENSP00000306607:L285I	ENSP00000306607:L285I	L	-	1	0	0	OR1L8	124369725	124369725	0.000000	0.05858	0.905000	0.35620	0.963000	0.63663	-0.518000	0.06267	0.304000	0.22809	0.449000	0.29647	CTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000				92	91		495	487	1		1			0	0	92	0		1	0	0	0	0	0	0	92	495
OR1Q1	158131	broad.mit.edu	37	9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	30					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478																																						ENST00000297913.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(88-90)gTt>gGt		olfactory receptor, family 1, subfamily Q, member 1							226.0	205.0	212.0					9																	125377105		2203	4300	6503	SO:0001583	missense	158131	0	0					g.chr9:125377105T>G		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.89T>G	chr9.hg19:g.125377105T>G	ENSP00000297913:p.Val30Gly	0					RP11-64P14.7_ENST00000431442.1_RNA	p.V30G	NM_012364.1	NP_036496.1	0	0	0	1.941936	Q15612	OR1Q1_HUMAN		1	158	+			Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	1	1	hg19	c.89T>G	CCDS35125.1	1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765450	0.31228	.	.	ENSG00000165202	ENST00000297913	T	0.03152	4.03	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.158012	0.30011	N	0.010629	T	0.04679	0.0127	L	0.31420	0.93	0.48830	D	0.99971	B	0.23735	0.09	B	0.26416	0.069	T	0.41342	-0.9514	10	0.87932	D	0	-2.0674	14.609	0.68501	0.0:0.0:0.0:1.0	.	30	Q15612	OR1Q1_HUMAN	G	30	ENSP00000297913:V30G	ENSP00000297913:V30G	V	+	2	0	0	OR1Q1	124416926	124416926	0.419000	0.25449	0.054000	0.19295	0.354000	0.29330	4.135000	0.57997	2.280000	0.76307	0.533000	0.62120	GTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1	1	0	1		2	2	2	0		0	0	157		157	157	1	2.060000	-20.000000	1	0.170000				133	131		674	653	1		1			0	0	157	0		1	0	0	0	0	0	0	133	674
OR1L1	26737	broad.mit.edu	37	9	125423951	125423951	+	Missense_Mutation	SNP	G	G	A	rs368414553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125423951G>A	ENST00000373686.1	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K	OR1L1_ENST00000309623.1_5'Flank			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GATGTTGGAAGAATCTGTTAC	0.343																																						ENST00000373686.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.987690	0.990000	1.000000																										0				17						c.(106-108)aGa>aAa		olfactory receptor, family 1, subfamily L, member 1							87.0	89.0	89.0					9																	125423951		2203	4300	6503	SO:0001583	missense	26737	0	0					g.chr9:125423951G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.107G>A	chr9.hg19:g.125423951G>A	ENSP00000362790:p.Arg36Lys	0					OR1L1_ENST00000309623.1_5'Flank	p.R36K			0	0	0	1.941936	Q8NH94	OR1L1_HUMAN		1	107	+			Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	1	1	hg19	c.107G>A		1	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046613	0.19748	.	.	ENSG00000173679	ENST00000373686	T	0.00032	8.88	2.87	-2.74	0.05932	2.87	-2.74	0.05932	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	8	0.06494	T	0.89	.	5.6596	0.17662	0.6407:0.0:0.2074:0.1519	.	36	Q8NH94	OR1L1_HUMAN	K	36	ENSP00000362790:R36K	ENSP00000362790:R36K	R	+	2	0	0	OR1L1	124463772	124463772	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.408000	0.02485	-0.656000	0.05380	0.313000	0.20887	AGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.318796	1	0.170000				32	32		272	272	1		1			0	0	61	0		1	0	0	0	0	0	0	32	272
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125424359G>A	ENST00000373686.1	+	1	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458																																						ENST00000373686.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(514-516)cGc>cAc		olfactory receptor, family 1, subfamily L, member 1							260.0	235.0	243.0					9																	125424359		2203	4300	6503	SO:0001583	missense	26737	1	121412	42				g.chr9:125424359G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.515G>A	chr9.hg19:g.125424359G>A	ENSP00000362790:p.Arg172His	0					OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H	p.R172H			0	0	0	1.941936	Q8NH94	OR1L1_HUMAN		1	515	+			Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	1	0	hg19	c.515G>A		1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353302	0.41700	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.77489	-1.1;-1.1	3.11	2.2	0.27929	3.11	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73273	0.3566	M	0.61703	1.905	0.27518	N	0.951488	B	0.21520	0.057	B	0.20184	0.028	T	0.66968	-0.5789	9	0.72032	D	0.01	.	9.2331	0.37450	0.1151:0.0:0.8849:0.0	.	172	Q8NH94	OR1L1_HUMAN	H	172;122	ENSP00000362790:R172H;ENSP00000310773:R122H	ENSP00000310773:R122H	R	+	2	0	0	OR1L1	124464180	124464180	0.996000	0.38824	0.317000	0.25265	0.010000	0.07245	7.528000	0.81941	0.623000	0.30267	0.313000	0.20887	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0		26	2	2	2		2	2	223		223	223	1	2.060000	-20.000000	1	0.170000				243	237		998	971	1		1			2	0	223	0		1	0	0	0	0	0	0	243	998
OR1L4	254973	broad.mit.edu	37	9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502																																						ENST00000259466.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(52-54)cTc>cAc		olfactory receptor, family 1, subfamily L, member 4							212.0	200.0	204.0					9																	125486321		2203	4300	6503	SO:0001583	missense	254973	0	0					g.chr9:125486321T>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.53T>A	chr9.hg19:g.125486321T>A	ENSP00000259466:p.Leu18His	0						p.L18H	NM_001005235.1	NP_001005235.1	0	0	0	1.941936	Q8NGR5	OR1L4_HUMAN		1	53	+			Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	1	1	hg19	c.53T>A	CCDS35129.1	1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.644701	0.47258	.	.	ENSG00000136939	ENST00000259466	T	0.00342	8.03	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.542857	0.15309	N	0.269196	T	0.00784	0.0026	M	0.92412	3.305	0.35383	D	0.79007	D	0.57571	0.98	P	0.53912	0.737	T	0.53279	-0.8461	10	0.87932	D	0	-9.9891	11.9185	0.52779	0.0:0.0:0.0:1.0	.	18	Q8NGR5	OR1L4_HUMAN	H	18	ENSP00000259466:L18H	ENSP00000259466:L18H	L	+	2	0	0	OR1L4	124526142	124526142	0.229000	0.23729	1.000000	0.80357	0.428000	0.31595	3.485000	0.53208	1.646000	0.50622	0.254000	0.18369	CTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0	0	0		2	2	2	0		0	0	142		142	143	1	2.060000	-20.000000	1	0.170000				154	151		664	631	1		1			0	0	142	0		1	0	0	0	0	0	0	154	664
OR1L4	254973	broad.mit.edu	37	9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517																																						ENST00000259466.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(424-426)Tgc>Cgc		olfactory receptor, family 1, subfamily L, member 4							247.0	195.0	213.0					9																	125486692		2203	4300	6503	SO:0001583	missense	254973	0	0					g.chr9:125486692T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.424T>C	chr9.hg19:g.125486692T>C	ENSP00000259466:p.Cys142Arg	0						p.C142R	NM_001005235.1	NP_001005235.1	0	0	0	1.941936	Q8NGR5	OR1L4_HUMAN		1	424	+			Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	1	1	hg19	c.424T>C	CCDS35129.1	1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487723	0.04352	.	.	ENSG00000136939	ENST00000259466	T	0.00241	8.46	4.01	2.83	0.33086	4.01	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.201999	0.35495	N	0.003172	T	0.00271	0.0008	M	0.84683	2.71	0.22620	N	0.998922	B	0.06786	0.001	B	0.11329	0.006	T	0.40496	-0.9560	10	0.87932	D	0	-15.3252	8.6337	0.33935	0.0:0.0963:0.0:0.9037	.	142	Q8NGR5	OR1L4_HUMAN	R	142	ENSP00000259466:C142R	ENSP00000259466:C142R	C	+	1	0	0	OR1L4	124526513	124526513	0.993000	0.37304	0.595000	0.28798	0.057000	0.15508	2.350000	0.44063	0.572000	0.29383	0.248000	0.18094	TGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0	0	0		2	2	2	0		0	0	189		189	194	1	2.060000	-20.000000	1	0.170000				176	174		804	785	1		1			0	0	189	0		1	0	0	0	0	0	0	176	804
OR1L6	392390	broad.mit.edu	37	9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000373684.1	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M	OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542																																						ENST00000373684.1	0.680000	0.360000	6.000000e-01	4.300000e-01	0.510000	0.523349	0.510000	0.510000																										0				12						c.(154-156)Ctg>Atg		olfactory receptor, family 1, subfamily L, member 6							184.0	173.0	176.0					9																	125512172		2203	4300	6503	SO:0001583	missense	392390	0	0					g.chr9:125512172C>A		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.154C>A	chr9.hg19:g.125512172C>A	ENSP00000362788:p.Leu52Met	0					OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M	p.L52M			0	0	0	1.941936	Q8NGR2	OR1L6_HUMAN		1	154	+			Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	1	1	hg19	c.154C>A		0	.	.	.	.	.	.	.	.	.	.	.	13.22	2.171199	0.38315	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00637	6.05;6.05	4.55	3.65	0.41850	4.55	3.65	0.41850	.	0.000000	0.39475	N	0.001356	T	0.02012	0.0063	L	0.46947	1.48	0.28760	N	0.900933	D	0.76494	0.999	D	0.85130	0.997	T	0.31336	-0.9947	10	0.56958	D	0.05	-10.2205	10.6813	0.45815	0.0:0.9051:0.0:0.0949	.	52	Q8NGR2	OR1L6_HUMAN	M	52;16	ENSP00000362788:L52M;ENSP00000304235:L16M	ENSP00000304235:L16M	L	+	1	2	2	OR1L6	124551993	124551993	0.000000	0.05858	0.994000	0.49952	0.500000	0.33767	-0.367000	0.07553	1.267000	0.44247	-0.140000	0.14226	CTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	157		157	159	1	2.060000	-3.195014	1	0.170000				38	36		807	776	0		1			0	0	157	0		1	0	0	0	0	0	0	38	807
OR1L6	392390	broad.mit.edu	37	9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000373684.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512																																						ENST00000373684.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(466-468)Gcc>Acc		olfactory receptor, family 1, subfamily L, member 6							109.0	93.0	98.0					9																	125512484		2203	4298	6501	SO:0001583	missense	392390	0	0					g.chr9:125512484G>A		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.466G>A	chr9.hg19:g.125512484G>A	ENSP00000362788:p.Ala156Thr	0					OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T	p.A156T			0	0	0	1.941936	Q8NGR2	OR1L6_HUMAN		1	466	+			Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	1	1	hg19	c.466G>A		1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.485945	0.84854	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13307	2.6;2.6	4.62	4.62	0.57501	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.45657	0.1353	M	0.90425	3.115	0.48087	D	0.999587	D	0.76494	0.999	D	0.81914	0.995	T	0.56872	-0.7907	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:0.0:1.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	T	156;120	ENSP00000362788:A156T;ENSP00000304235:A120T	ENSP00000304235:A120T	A	+	1	0	0	OR1L6	124552305	124552305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.208000	0.65203	2.557000	0.86248	0.655000	0.94253	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	100		100	120	1	2.060000	-20.000000	1	0.170000				86	81		482	467	0		1			0	0	100	0		1	0	0	0	0	0	0	86	482
OR1L6	392390	broad.mit.edu	37	9	125513037	125513037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125513037A>G	ENST00000373684.1	+	1	1019	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGTTTGAAGAAATTACAGGAC	0.403																																						ENST00000373684.1	0.590000	0.140000	4.600000e-01	2.200000e-01	0.320000	0.345538	0.320000	0.300000																										0				12						c.(1018-1020)aAa>aGa		olfactory receptor, family 1, subfamily L, member 6							58.0	56.0	57.0					9																	125513037		2203	4300	6503	SO:0001583	missense	392390	0	0					g.chr9:125513037A>G		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.1019A>G	chr9.hg19:g.125513037A>G	ENSP00000362788:p.Lys340Arg	0					OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R	p.K340R			0	0	0	1.941936	Q8NGR2	OR1L6_HUMAN		1	1019	+			Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	0	1	hg19	c.1019A>G		0	.	.	.	.	.	.	.	.	.	.	A	6.901	0.535842	0.13188	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.37915	1.17;1.17	4.11	2.99	0.34606	4.11	2.99	0.34606	.	0.102660	0.42964	D	0.000632	T	0.12603	0.0306	N	0.04669	-0.19	0.30572	N	0.763362	B	0.17465	0.022	B	0.14578	0.011	T	0.28138	-1.0053	10	0.02654	T	1	-6.8199	7.3695	0.26794	0.8911:0.0:0.1089:0.0	.	340	Q8NGR2	OR1L6_HUMAN	R	340;304	ENSP00000362788:K340R;ENSP00000304235:K304R	ENSP00000304235:K304R	K	+	2	0	0	OR1L6	124552858	124552858	0.010000	0.17322	0.712000	0.30502	0.330000	0.28571	0.694000	0.25512	1.848000	0.53677	0.533000	0.62120	AAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.512767	1	0.170000				7	7		250	239	0		1			0	0	51	0		9.778015e-01	0	0	0	0	0	0	7	250
OR5C1	392391	broad.mit.edu	37	9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627																																						ENST00000373680.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(184-186)cCt>cTt		olfactory receptor, family 5, subfamily C, member 1							144.0	133.0	136.0					9																	125551396		2203	4300	6503	SO:0001583	missense	392391	0	0					g.chr9:125551396C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.185C>T	chr9.hg19:g.125551396C>T	ENSP00000362784:p.Pro62Leu	0						p.P62L	NM_001001923.1	NP_001001923.1	0	0	0	1.941936	Q8NGR4	OR5C1_HUMAN		1	247	+			B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	1	1	hg19	c.185C>T	CCDS35131.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780487	0.90195	.	.	ENSG00000148215	ENST00000373680	T	0.02032	4.49	5.29	5.29	0.74685	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	U	0.002743	T	0.15696	0.0378	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00077	-1.2115	10	0.87932	D	0	.	17.8648	0.88793	0.0:1.0:0.0:0.0	.	62	Q8NGR4	OR5C1_HUMAN	L	62	ENSP00000362784:P62L	ENSP00000362784:P62L	P	+	2	0	0	OR5C1	124591217	124591217	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	4.795000	0.62489	2.741000	0.93983	0.650000	0.86243	CCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1	1	0	1		2	2	2	0		0	0	129		129	127	1	2.060000	-20.000000	1	0.170000				129	128		579	566	1		1			0	0	129	0		1	0	0	0	0	0	0	129	579
OR1K1	392392	broad.mit.edu	37	9	125563013	125563013	+	Silent	SNP	C	C	T	rs201462124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		20184	0.002		0.0	False		,,,				2504	0.001					ENST00000277309.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(610-612)ggC>ggT		olfactory receptor, family 1, subfamily K, member 1							80.0	68.0	72.0					9																	125563013		2203	4300	6503	SO:0001819	synonymous_variant	392392	26	121412	45				g.chr9:125563013C>T	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.612C>T	chr9.hg19:g.125563013C>T		0						p.G204G	NM_080859.1	NP_543135.1	0	0	0	1.941936	Q8NGR3	OR1K1_HUMAN		1	644	+			B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	1	1	hg19	c.612C>T	CCDS35132.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.628449	1	0.170000				82	81		329	323	1		1			0	0	60	0		1	0	0	0	0	0	0	82	329
PDCL	5082	broad.mit.edu	37	9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	87					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522																																						ENST00000259467.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(259-261)Ctg>Atg		phosducin-like							251.0	214.0	227.0					9																	125585390		2203	4300	6503	SO:0001583	missense	5082	0	0					g.chr9:125585390G>T	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.259C>A	chr9.hg19:g.125585390G>T	ENSP00000259467:p.Leu87Met	0						p.L87M	NM_005388.4	NP_005379.3	0	0	0	1.941936	Q13371	PHLP_HUMAN		3	424	-			Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	1	1	hg19	c.259C>A	CCDS6845.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433300|4.433300	0.83776|0.83776	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.54071	.|0.59	5.98|5.98	5.08|5.08	0.68730|0.68730	5.98|5.98	5.08|5.08	0.68730|0.68730	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69260|0.69260	0.3091|0.3091	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|D;D	.|0.64877	.|0.93;0.93	T|T	0.71251|0.71251	-0.4648|-0.4648	5|10	.|0.66056	.|D	.|0.02	-16.2229|-16.2229	14.7352|14.7352	0.69412|0.69412	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|87;87	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	D|M	53;75|87	.|ENSP00000259467:L87M	.|ENSP00000259467:L87M	A|L	-|-	2|1	0|2	0|2	PDCL|PDCL	124625211|124625211	124625211|124625211	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.470000|9.470000	0.97683|0.97683	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GCT|CTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	1	0	1		2	2	2	0		0	0	141		141	140	1	2.060000	-20.000000	1	0.170000	NM_005388			153	150		724	706	1		1	1		0	0	141	0		1	1	0	27	0	122	0	153	724
RC3H2	54542	broad.mit.edu	37	9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	491					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403																																						ENST00000373670.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				33						c.(1471-1473)Cca>Tca		ring finger and CCCH-type domains 2							186.0	169.0	174.0					9																	125627791		1887	4104	5991	SO:0001583	missense	54542	0	0					g.chr9:125627791G>A	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.1471C>T	chr9.hg19:g.125627791G>A	ENSP00000362774:p.Pro491Ser	0					RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S	p.P491S			0	0	0	1.941936	Q9HBD1	RC3H2_HUMAN		9	2071	-			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	1	1	hg19	c.1471C>T	CCDS43874.1	1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765436	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.43294	0.95;0.95;0.96	5.97	4.12	0.48240	5.97	4.12	0.48240	.	0.260591	0.38720	N	0.001600	T	0.48333	0.1494	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	T	0.33979	-0.9847	10	0.24483	T	0.36	-8.3702	14.8346	0.70172	0.0:0.2712:0.7288:0.0	.	491;491	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	S	491;491;362;491	ENSP00000362774:P491S;ENSP00000349783:P491S;ENSP00000411767:P491S	ENSP00000349783:P491S	P	-	1	0	0	RC3H2	124667612	124667612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.727000	0.47311	0.841000	0.35020	-0.156000	0.13503	CCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.225120	1	0.170000	NM_018835			63	63		350	345	1		1	1		0	0	92	0		1	9.998732e-01	0	15	0	60	0	63	350
RC3H2	54542	broad.mit.edu	37	9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	150					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502																																						ENST00000373670.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(448-450)aGa>aTa		ring finger and CCCH-type domains 2							104.0	105.0	105.0					9																	125652725		1961	4173	6134	SO:0001583	missense	54542	0	0					g.chr9:125652725C>A	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.449G>T	chr9.hg19:g.125652725C>A	ENSP00000362774:p.Arg150Ile	0					RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I	p.R150I			0	0	0	1.941936	Q9HBD1	RC3H2_HUMAN		3	1049	-			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	1	1	hg19	c.449G>T	CCDS43874.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.269290	0.95429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.994	D;D;D;D	0.83275	0.979;0.944;0.996;0.975	D	0.98019	1.0370	10	0.87932	D	0	-25.9351	18.5797	0.91166	0.0:1.0:0.0:0.0	.	150;150;150;150	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	I	150;150;21;150;150;150	ENSP00000362774:R150I;ENSP00000349783:R150I;ENSP00000411767:R150I;ENSP00000362769:R150I;ENSP00000335150:R150I	ENSP00000335150:R150I	R	-	2	0	0	RC3H2	124692546	124692546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.636000	0.89361	0.491000	0.48974	AGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.882708	1	0.170000	NM_018835			79	78		283	273	1		1	1		0	0	69	0		1	9.999999e-01	0	19	0	66	0	79	283
RC3H2	54542	broad.mit.edu	37	9	125659639	125659639	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	50					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGTCAAAAGGACAAGCTTTTC	0.403																																						ENST00000373670.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.996012	0.990000	1.000000																										0				33						c.(148-150)tgT>tgC		ring finger and CCCH-type domains 2							107.0	102.0	104.0					9																	125659639		1917	4129	6046	SO:0001819	synonymous_variant	54542	0	0					g.chr9:125659639A>G	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.150T>C	chr9.hg19:g.125659639A>G		0					RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C	p.C50C			0	0	0	1.941936	Q9HBD1	RC3H2_HUMAN		1	750	-			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	1	1	hg19	c.150T>C	CCDS43874.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	0		2	2	2	0		0	0	50		50	50	1	2.060000	-13.020560	1	0.170000	NM_018835			28	27		205	202	0		1	1		0	0	50	0		1	9.854984e-01	0	6	0	46	0	28	205
RC3H2	54542	broad.mit.edu	37	9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	22					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443																																						ENST00000373670.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.995370	0.990000	1.000000																										0				33						c.(64-66)Gat>Aat		ring finger and CCCH-type domains 2							91.0	86.0	87.0					9																	125659725		1918	4121	6039	SO:0001583	missense	54542	1	120848	28				g.chr9:125659725C>T	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.64G>A	chr9.hg19:g.125659725C>T	ENSP00000362774:p.Asp22Asn	0					RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N	p.D22N			0	0	0	1.941936	Q9HBD1	RC3H2_HUMAN		1	664	-			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	1	1	hg19	c.64G>A	CCDS43874.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.125828	0.94429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.17	6.17	0.99709	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	N	0.16903	0.455	0.58432	D	0.999999	B;D;B;D	0.67145	0.02;0.993;0.033;0.996	B;D;B;D	0.79784	0.072;0.971;0.036;0.993	D	0.87560	0.2471	10	0.34782	T	0.22	4.0E-4	19.8676	0.96824	0.0:1.0:0.0:0.0	.	22;22;22;22	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	22	ENSP00000362774:D22N;ENSP00000349783:D22N;ENSP00000411767:D22N;ENSP00000362769:D22N;ENSP00000335150:D22N	ENSP00000335150:D22N	D	-	1	0	0	RC3H2	124699546	124699546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	0		2	2	2	0		0	0	37		37	35	1	2.060000	-20.000000	1	0.170000	NM_018835			19	19		124	122	1		1	1		0	0	37	0		9.999932e-01	9.290147e-01	0	10	0	22	0	19	124
ZBTB26	57684	broad.mit.edu	37	9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCCTGTGTGCACCGTTCTACA	0.443																																						ENST00000373656.3	1.000000	0.700000	1	8.100000e-01	0.940000	0.921154	0.940000	1.000000																										0				11						c.(355-357)Tgc>Cgc		zinc finger and BTB domain containing 26							137.0	120.0	125.0					9																	125681859		2203	4300	6503	SO:0001583	missense	57684	0	0					g.chr9:125681859A>G	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.355T>C	chr9.hg19:g.125681859A>G	ENSP00000362760:p.Cys119Arg	0					ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	p.C119R	NM_020924.2	NP_065975.1	0	0	0	1.941936	Q9HCK0	ZBT26_HUMAN		2	428	-			B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	1	1	hg19	c.355T>C	CCDS6847.1	1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955099	0.53293	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76647	-0.2882	10	0.87932	D	0	.	15.6989	0.77528	1.0:0.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	R	119	ENSP00000362760:C119R;ENSP00000362758:C119R	ENSP00000362758:C119R	C	-	1	0	0	ZBTB26	124721680	124721680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.962000	0.93254	2.107000	0.64212	0.482000	0.46254	TGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-12.088550	1	0.170000	NM_020924			44	44		486	473	0		1	0		0	0	82	0		1	4.829041e-01	0	0	0	19	0	44	486
RABGAP1	23637	broad.mit.edu	37	9	125746835	125746835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	74					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)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478																																						ENST00000373647.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998424	0.990000	1.000000																										0				41						c.(220-222)gaC>gaT		RAB GTPase activating protein 1							107.0	89.0	95.0					9																	125746835		2203	4300	6503	SO:0001819	synonymous_variant	23637	5	121412	35				g.chr9:125746835C>T	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.222C>T	chr9.hg19:g.125746835C>T		0						p.D74D	NM_012197.3	NP_036329.3	0	0	0	1.941936	Q9Y3P9	RBGP1_HUMAN		3	356	+			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	1	1	hg19	c.222C>T	CCDS6848.2	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_012197			30	31		204	201	1		1	1		0	0	73	0		1	9.996364e-01	0	16	0	70	0	30	204
RABGAP1	23637	broad.mit.edu	37	9	125758828	125758828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125758828C>A	ENST00000373647.4	+	8	1179	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	349					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)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTGTTTTGGTCTTCTCCTTAG	0.289																																						ENST00000373647.4	0.510000	0.120000	4.000000e-01	1.900000e-01	0.280000	0.300240	0.280000	0.260000																										0				41						c.(1045-1047)Ctt>Att		RAB GTPase activating protein 1							87.0	85.0	86.0					9																	125758828		2203	4295	6498	SO:0001583	missense	23637	0	0					g.chr9:125758828C>A	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.1045C>A	chr9.hg19:g.125758828C>A	ENSP00000362751:p.Leu349Ile	0						p.L349I	NM_012197.3	NP_036329.3	0	0	0	1.941936	Q9Y3P9	RBGP1_HUMAN		8	1179	+			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	0	1	hg19	c.1045C>A	CCDS6848.2	0	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843805	0.71488	.	.	ENSG00000011454	ENST00000373647;ENST00000426918	T	0.05996	3.36	5.73	4.82	0.62117	5.73	4.82	0.62117	.	0.077131	0.53938	D	0.000052	T	0.11281	0.0275	L	0.47190	1.495	0.80722	D	1	P	0.42337	0.776	P	0.48840	0.592	T	0.01748	-1.1282	10	0.66056	D	0.02	-7.2032	10.123	0.42632	0.0:0.7907:0.1382:0.0711	.	349	Q9Y3P9	RBGP1_HUMAN	I	349;180	ENSP00000362751:L349I	ENSP00000362751:L349I	L	+	1	0	0	RABGAP1	124798649	124798649	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.590000	0.53979	1.389000	0.46526	0.591000	0.81541	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.093121	1	0.170000	NM_012197			7	7		290	286	0		1	1		0	0	60	0		9.799894e-01	5.869346e-01	0	2	0	76	0	7	290
GPR21	2844	broad.mit.edu	37	9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A	rs200361773	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	227					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)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512													g|||	2	0.000399361	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.001					ENST00000373642.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(679-681)Gaa>Aaa		G protein-coupled receptor 21							121.0	116.0	118.0					9																	125797524		2203	4300	6503	SO:0001583	missense	2844	4	121412	37				g.chr9:125797524G>A	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.679G>A	chr9.hg19:g.125797524G>A	ENSP00000362746:p.Glu227Lys	0					RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	p.E227K	NM_005294.1	NP_005285.1	0	0	0	1.941936	Q99679	GPR21_HUMAN		1	719	+			B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	1	1	hg19	c.679G>A	CCDS6849.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.383	-0.927655	0.02377	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.37058	1.22	5.67	2.89	0.33648	5.67	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.157646	0.38605	N	0.001629	T	0.21550	0.0519	L	0.28556	0.865	0.80722	D	1	P	0.40660	0.726	B	0.38655	0.278	T	0.08617	-1.0713	10	0.02654	T	1	-1.093	11.394	0.49830	0.1967:0.0:0.8033:0.0	.	227	Q99679	GPR21_HUMAN	K	227	ENSP00000362746:E227K	ENSP00000362746:E227K	E	+	1	0	0	GPR21	124837345	124837345	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.264000	0.51553	0.358000	0.24211	-1.399000	0.01144	GAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	1	0	1		2	2	2	0		0	0	154		154	154	1	2.060000	-3.503301	1	0.170000	NM_005294			137	136		571	558	1		1			0	0	154	0		1	0	0	0	0	0	0	137	571
RABGAP1	23637	broad.mit.edu	37	9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1007					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)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488																																						ENST00000373647.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				41						c.(3019-3021)Ctg>Atg		RAB GTPase activating protein 1							77.0	76.0	76.0					9																	125863974		2203	4300	6503	SO:0001583	missense	23637	1	121412	29				g.chr9:125863974C>A	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.3019C>A	chr9.hg19:g.125863974C>A	ENSP00000362751:p.Leu1007Met	0					RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	p.L1007M	NM_012197.3	NP_036329.3	0	0	0	1.941936	Q9Y3P9	RBGP1_HUMAN		25	3153	+			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	1	1	hg19	c.3019C>A	CCDS6848.2	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946014	0.73672	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17528	3.2;2.27	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	P	0.42357	0.777	B	0.42555	0.391	T	0.00529	-1.1687	10	0.51188	T	0.08	-14.6153	19.5755	0.95441	0.0:1.0:0.0:0.0	.	1007	Q9Y3P9	RBGP1_HUMAN	M	1007;346	ENSP00000362751:L1007M;ENSP00000362747:L346M	ENSP00000362747:L346M	L	+	1	2	2	RABGAP1	124903795	124903795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.865000	0.98341	0.655000	0.94253	CTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-20.000000	1	0.170000	NM_012197			36	35		165	164	1		1	1		0	0	67	0		1	1	0	39	0	107	0	36	165
CRB2	286204	broad.mit.edu	37	9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000359999.3_Missense_Mutation_p.G379D|CRB2_ENST00000373629.2_Missense_Mutation_p.G47D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	379	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627																																						ENST00000373631.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1135-1137)gGc>gAc		crumbs family member 2							49.0	52.0	51.0					9																	126132468		2203	4300	6503	SO:0001583	missense	286204	0	0					g.chr9:126132468G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1136G>A	chr9.hg19:g.126132468G>A	ENSP00000362734:p.Gly379Asp	0					CRB2_ENST00000359999.3_Missense_Mutation_p.G379D|CRB2_ENST00000373629.2_Missense_Mutation_p.G47D	p.G379D	NM_173689.5	NP_775960.4	0	0	0	1.941936	Q5IJ48	CRUM2_HUMAN		7	1137	+			A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	1	1	hg19	c.1136G>A	CCDS6852.2	1	.	.	.	.	.	.	.	.	.	.	G	0.707	-0.788613	0.02884	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92965	-2.27;-2.27;-3.14	4.86	2.63	0.31362	4.86	2.63	0.31362	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.209127	0.24215	N	0.040488	D	0.86590	0.5969	M	0.67953	2.075	0.32023	N	0.600576	B;B	0.12013	0.005;0.005	B;B	0.14578	0.005;0.011	T	0.74985	-0.3477	10	0.14656	T	0.56	.	2.3514	0.04284	0.2896:0.3183:0.392:0.0	.	379;379	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	379;379;47	ENSP00000353092:G379D;ENSP00000362734:G379D;ENSP00000362732:G47D	ENSP00000353092:G379D	G	+	2	0	0	CRB2	125172289	125172289	0.978000	0.34361	0.979000	0.43373	0.061000	0.15899	0.925000	0.28791	0.978000	0.38470	0.448000	0.29417	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	1	0	1		2	2	2	0		0	0	80		80	79	1	2.060000	-20.000000	1	0.170000	NM_173689			58	56		250	241	1		1			0	0	80	0		1	0	0	0	0	0	0	58	250
CRB2	286204	broad.mit.edu	37	9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	477	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617																																						ENST00000373631.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				23						c.(1429-1431)cGc>cTc		crumbs family member 2							55.0	47.0	50.0					9																	126132762		2203	4300	6503	SO:0001583	missense	286204	0	0					g.chr9:126132762G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1430G>T	chr9.hg19:g.126132762G>T	ENSP00000362734:p.Arg477Leu	0					CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	p.R477L	NM_173689.5	NP_775960.4	0	0	0	1.941936	Q5IJ48	CRUM2_HUMAN		7	1431	+			A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	1	1	hg19	c.1430G>T	CCDS6852.2	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528863	0.27387	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	3.03	0.35002	4.94	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.381500	0.19233	N	0.119356	T	0.63604	0.2525	L	0.43598	1.365	0.50039	D	0.999842	B;P	0.37233	0.22;0.588	B;B	0.36719	0.165;0.231	T	0.54523	-0.8281	10	0.27785	T	0.31	.	9.2438	0.37513	0.0768:0.0:0.7738:0.1494	.	477;477	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	477;477;145	ENSP00000353092:R477L;ENSP00000362734:R477L;ENSP00000362732:R145L	ENSP00000353092:R477L	R	+	2	0	0	CRB2	125172583	125172583	0.982000	0.34865	0.546000	0.28166	0.431000	0.31685	2.445000	0.44899	0.453000	0.26858	0.448000	0.29417	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	1	0	0		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000	NM_173689			39	38		164	160	1		1			0	0	65	0		1	0	0	0	0	0	0	39	164
TYRP1	7306	broad.mit.edu	37	9	12709023	12709023	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Silent_p.G194G|TYRP1_ENST00000381136.2_Silent_p.G195G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	485					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)			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)		CAGTAGTTGGCGCTTTGTTAC	0.403									Oculocutaneous Albinism																													ENST00000388918.5	0.660000	0.200000	5.300000e-01	2.800000e-01	0.390000	0.412231	0.390000	0.380000																										0				22						c.(1453-1455)ggC>ggA		tyrosinase-related protein 1							189.0	175.0	180.0					9																	12709023		2203	4300	6503	SO:0001819	synonymous_variant	7306	0	0		Oculocutaneous Albinism	Familial Cancer Database		g.chr9:12709023C>A	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.1455C>A	chr9.hg19:g.12709023C>A		0					TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Silent_p.G195G|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Silent_p.G194G	p.G485G	NM_000550.2	NP_000541.1	0	0	0	1.928190	P17643	TYRP1_HUMAN		8	1584	+		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)	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	1	1	hg19	c.1455C>A	CCDS34990.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	0	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-3.289627	1	0.170000	NM_000550			10	10		285	279	0		1	0		0	0	58	0		9.966863e-01	1.978472e-02	0	0	0	6	0	10	285
DENND1A	57706	broad.mit.edu	37	9	126202642	126202642	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	495					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)			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						TACACACCTGTCCAAAGTGGA	0.517																																						ENST00000373624.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				43						c.(1483-1485)ggA>ggG		DENN/MADD domain containing 1A							54.0	46.0	49.0					9																	126202642		2203	4300	6503	SO:0001819	synonymous_variant	57706	0	0					g.chr9:126202642T>C	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.1485A>G	chr9.hg19:g.126202642T>C		0					DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000394215.2_Silent_p.G465G	p.G495G	NM_020946.1	NP_065997.1	0	0	0	1.941936	Q8TEH3	DEN1A_HUMAN		19	1686	-			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	1	1	hg19	c.1485A>G	CCDS35133.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_024820			38	36		191	185	1		1	1		0	0	45	0		1	1	0	57	0	88	0	38	191
PSMB7	5695	broad.mit.edu	37	9	127177699	127177699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000259457.3	-	1	19	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000498485.1_5'Flank|PSMB7_ENST00000536392.1_Silent_p.A2A	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	2					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)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259457.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(4-6)gcG>gcA		proteasome (prosome, macropain) subunit, beta type, 7							37.0	37.0	37.0					9																	127177699		2203	4300	6503	SO:0001819	synonymous_variant	5695	1	121412	24				g.chr9:127177699C>T	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.6G>A	chr9.hg19:g.127177699C>T		0		OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_ENST00000498485.1_5'Flank|PSMB7_ENST00000536392.1_Silent_p.A2A	p.A2A	NM_002799.3	NP_002790.1	0	0	0	1.941936	Q99436	PSB7_HUMAN		1	19	-			B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Silent	SNP	ENST00000259457.3	1	1	hg19	c.6G>A	CCDS6855.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_002799			43	43		155	153	1		1	1		0	0	34	0		1	1	0	75	0	378	0	43	155
NR5A1	2516	broad.mit.edu	37	9	127262888	127262888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	117					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672																																						ENST00000373588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(349-351)ggC>ggT		nuclear receptor subfamily 5, group A, member 1							33.0	36.0	35.0					9																	127262888		2145	4137	6282	SO:0001819	synonymous_variant	2516	0	0					g.chr9:127262888G>A	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.351C>T	chr9.hg19:g.127262888G>A		0						p.G117G	NM_004959.4	NP_004950.2	0	0	0	1.941936	Q13285	STF1_HUMAN		4	547	-			O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	1	1	hg19	c.351C>T	CCDS6856.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	1	0	1		2	2	2	0		0	0	36		36	34	1	2.060000	-20.000000	1	0.170000	NM_004959			47	47		190	188	1		1			0	0	36	0		1	0	0	0	0	0	0	47	190
NR6A1	2649	broad.mit.edu	37	9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	132					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)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				17						c.(394-396)Gaa>Taa		nuclear receptor subfamily 6, group A, member 1							100.0	88.0	92.0					9																	127306128		2203	4300	6503	SO:0001587	stop_gained	2649	0	0					g.chr9:127306128C>A	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.394G>T	chr9.hg19:g.127306128C>A	ENSP00000420267:p.Glu132*	0					NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*	p.E132*	NM_001278546.1	NP_001265475.1	0	0	0	1.941936	Q15406	NR6A1_HUMAN		4	551	-			O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	0	1	hg19	c.394G>T	CCDS35137.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.332443	0.95733	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.7859	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	132;128;128;132;90	.	ENSP00000341135:E132X	E	-	1	0	0	NR6A1	126345949	126345949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.418000	0.82041	0.655000	0.94253	GAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-19.865920	1	0.170000				33	32		143	139	1		1	0		0	0	46	0		1	0	0	0	0	1	0	33	143
OLFML2A	169611	broad.mit.edu	37	9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	36					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647																																						ENST00000373580.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(106-108)Gac>Tac		olfactomedin-like 2A							78.0	85.0	83.0					9																	127549269		2019	4177	6196	SO:0001583	missense	169611	0	0					g.chr9:127549269G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.106G>T	chr9.hg19:g.127549269G>T	ENSP00000362682:p.Asp36Tyr	0						p.D36Y	NM_182487.2	NP_872293.2	0	0	0	1.941936	Q68BL7	OLM2A_HUMAN		2	106	+			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	1	1	hg19	c.106G>T	CCDS6857.2	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613585	0.87359	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.109377	0.64402	D	0.000008	T	0.69762	0.3147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.94	T	0.72204	-0.4361	10	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	36;36	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	Y	36	ENSP00000336425:D36Y;ENSP00000362682:D36Y	ENSP00000336425:D36Y	D	+	1	0	0	OLFML2A	126589090	126589090	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.587000	0.82613	2.699000	0.92147	0.655000	0.94253	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1		2	2	2	0		0	0	153		153	147	1	2.060000	-20.000000	1	0.170000	NM_182487			138	137		645	629	1		1	0		0	0	153	0		1	1.470851e-01	0	0	0	4	0	138	645
OLFML2A	169611	broad.mit.edu	37	9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	587	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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657																																						ENST00000373580.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1759-1761)gCc>gAc		olfactomedin-like 2A							111.0	96.0	101.0					9																	127572492		2203	4300	6503	SO:0001583	missense	169611	0	0					g.chr9:127572492C>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1760C>A	chr9.hg19:g.127572492C>A	ENSP00000362682:p.Ala587Asp	0					OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	p.A587D	NM_182487.2	NP_872293.2	0	0	0	1.941936	Q68BL7	OLM2A_HUMAN		8	1760	+			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	1	1	hg19	c.1760C>A	CCDS6857.2	1	.	.	.	.	.	.	.	.	.	.	C	31	5.059241	0.93846	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90563	1.27;-2.69	5.52	5.52	0.82312	5.52	5.52	0.82312	Olfactomedin-like (3);	0.057190	0.64402	D	0.000001	D	0.96172	0.8752	M	0.91510	3.215	0.80722	D	1	D;D	0.56968	0.974;0.978	D;D	0.65233	0.915;0.933	D	0.96831	0.9611	10	0.87932	D	0	.	18.0092	0.89218	0.0:1.0:0.0:0.0	.	373;587	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	D	279;587;373	ENSP00000362682:A587D;ENSP00000288815:A373D	ENSP00000288815:A373D	A	+	2	0	0	OLFML2A	126612313	126612313	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-3.183875	1	0.170000	NM_182487			70	70		335	333	1		1	0		0	0	53	0		1	9.325272e-01	0	0	0	24	0	70	335
OLFML2A	169611	broad.mit.edu	37	9	127572610	127572610	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	626	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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642																																						ENST00000373580.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				25						c.(1876-1878)atC>atT		olfactomedin-like 2A							146.0	117.0	127.0					9																	127572610		2203	4300	6503	SO:0001819	synonymous_variant	169611	2	121412	33				g.chr9:127572610C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1878C>T	chr9.hg19:g.127572610C>T		0					OLFML2A_ENST00000288815.5_Silent_p.I412I	p.I626I	NM_182487.2	NP_872293.2	0	0	0	1.941936	Q68BL7	OLM2A_HUMAN		8	1878	+			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	1	1	hg19	c.1878C>T	CCDS6857.2	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000	NM_182487			56	53		306	300	1		1	0		0	0	54	0		1	6.209677e-01	0	0	0	13	0	56	306
RPL35	11224	broad.mit.edu	37	9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	112					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)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602																																						ENST00000348462.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(334-336)Cgg>Tgg		ribosomal protein L35							48.0	42.0	44.0					9																	127620235		2202	4300	6502	SO:0001583	missense	11224	0	0					g.chr9:127620235G>A	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.334C>T	chr9.hg19:g.127620235G>A	ENSP00000259469:p.Arg112Trp	0					RPL35_ENST00000373570.4_3'UTR	p.R112W	NM_007209.3	NP_009140.1	0	0	0	1.941936	P42766	RL35_HUMAN		4	382	-			A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	1	1	hg19	c.334C>T	CCDS6858.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057092	0.76074	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.157858	0.56097	N	0.000023	T	0.64800	0.2631	L	0.49778	1.585	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58278	-0.7664	9	0.45353	T	0.12	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	112	P42766	RL35_HUMAN	W	112	.	ENSP00000259469:R112W	R	-	1	2	2	RPL35	126660056	126660056	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.313000	0.65798	2.882000	0.98803	0.655000	0.94253	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_007209			53	51		260	254	1		1	1		0	0	55	0		1	1	0	1010	0	3264	0	53	260
ARPC5L	81873	broad.mit.edu	37	9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	139					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483																																						ENST00000353214.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(415-417)Gga>Aga		actin related protein 2/3 complex, subunit 5-like							95.0	78.0	84.0					9																	127639172		2203	4300	6503	SO:0001583	missense	81873	0	0					g.chr9:127639172G>A	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.415G>A	chr9.hg19:g.127639172G>A	ENSP00000345361:p.Gly139Arg	0					ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R	p.G139R			0	0	0	1.941936	Q9BPX5	ARP5L_HUMAN		6	1667	+			Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	1	1	hg19	c.415G>A	CCDS6859.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599791	0.87055	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.93	5.04	0.67666	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89478	0.3748	9	0.87932	D	0	-13.7536	14.1836	0.65590	0.0713:0.0:0.9287:0.0	.	139	Q9BPX5	ARP5L_HUMAN	R	139	.	ENSP00000259477:G139R	G	+	1	0	0	ARPC5L	126678993	126678993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	1.520000	0.48965	0.655000	0.94253	GGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.152204	1	0.170000	NM_030978			49	49		205	200	1		1	1		0	0	44	0		1	1	0	135	0	216	0	49	205
SCAI	286205	broad.mit.edu	37	9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	102	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				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)			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						GCTGGAACTTCCAGAGTTTGG	0.368																																						ENST00000336505.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				35						c.(304-306)tgG>tgA		suppressor of cancer cell invasion							83.0	79.0	80.0					9																	127791943		1848	4099	5947	SO:0001587	stop_gained	286205	0	0					g.chr9:127791943C>T	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.306G>A	chr9.hg19:g.127791943C>T	ENSP00000336756:p.Trp102*	0					SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	p.W102*	NM_001144877.2	NP_001138349.1	0	0	0	1.941936	Q8N9R8	SCAI_HUMAN		4	364	-			Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Nonsense_Mutation	SNP	ENST00000336505.6	0	1	hg19	c.306G>A	CCDS48017.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.853612	0.97030	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7216	18.7503	0.91812	0.0:1.0:0.0:0.0	.	.	.	.	X	102;125	.	ENSP00000336756:W102X	W	-	3	0	0	SCAI	126831764	126831764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.775000	0.95449	0.655000	0.94253	TGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-19.509760	1	0.170000	NM_173690			31	29		130	128	1		1	0		0	0	49	0		1	3.357064e-01	0	1	0	5	0	31	130
PPP6C	5537	broad.mit.edu	37	9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000373547.4	-	7	878	c.779A>C	c.(778-780)aAt>aCt	p.N260T	PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	260					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)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393																																						ENST00000373547.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				14						c.(778-780)aAt>aCt		protein phosphatase 6, catalytic subunit							135.0	119.0	125.0					9																	127912091		2203	4300	6503	SO:0001583	missense	5537	0	0					g.chr9:127912091T>G	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.779A>C	chr9.hg19:g.127912091T>G	ENSP00000362648:p.Asn260Thr	0					PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T|PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T	p.N260T	NM_002721.4	NP_002712.1	0	0	0	1.941936	O00743	PPP6_HUMAN		7	878	-			B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	1	1	hg19	c.779A>C	CCDS6861.1	1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175190	0.57692	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.52	5.52	0.82312	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90237	0.4283	10	0.87932	D	0	-14.2754	14.812	0.70003	0.0:0.0:0.0:1.0	.	238;297;260	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	260;297;238;113	ENSP00000362648:N260T;ENSP00000392147:N297T;ENSP00000411744:N238T;ENSP00000362647:N113T	ENSP00000362647:N113T	N	-	2	0	0	PPP6C	126951912	126951912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.650000	0.83521	2.093000	0.63338	0.455000	0.32223	AAT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_016294			38	38		191	187	1		1	1		0	0	40	0		1	1	0	83	0	234	0	38	191
RABEPK	10244	broad.mit.edu	37	9	127990330	127990330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	ENST00000373538.3	+	6	978	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	223					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCACTGCATTGATATAAGT	0.458																																						ENST00000373538.3	1.000000	0.410000	9.700000e-01	5.600000e-01	0.750000	0.756951	0.750000	1.000000																										0				15						c.(667-669)aTt>aCt		Rab9 effector protein with kelch motifs							49.0	49.0	49.0					9																	127990330		2203	4300	6503	SO:0001583	missense	10244	0	0					g.chr9:127990330T>C	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.668T>C	chr9.hg19:g.127990330T>C	ENSP00000362639:p.Ile223Thr	0					RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T	p.I223T	NM_005833.3	NP_005824.2	0	0	0	1.941936	Q7Z6M1	RABEK_HUMAN		6	978	+			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	0	1	hg19	c.668T>C	CCDS6862.1	0	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035062	0.54896	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.63913	-0.07;-0.07;-0.07	5.13	5.13	0.70059	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.210427	0.48286	D	0.000200	T	0.63570	0.2522	M	0.74881	2.28	0.80722	D	1	B;B;B	0.25609	0.016;0.13;0.016	B;B;B	0.24974	0.012;0.057;0.012	T	0.65055	-0.6261	10	0.54805	T	0.06	-8.861	14.4082	0.67096	0.0:0.0:0.0:1.0	.	223;172;223	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	T	223;172;223	ENSP00000377683:I223T;ENSP00000259460:I172T;ENSP00000362639:I223T	ENSP00000259460:I172T	I	+	2	0	0	RABEPK	127030151	127030151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.211000	0.77933	2.188000	0.69820	0.514000	0.50259	ATT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	0	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-16.589550	1	0.170000	NM_005833			12	12		172	170	0		1	1		0	0	29	0		9.991603e-01	9.925743e-01	0	8	0	114	0	12	172
HSPA5	3309	broad.mit.edu	37	9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T	rs200526775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	393					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473										Prostate(1;0.17)																												ENST00000324460.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				23						c.(1177-1179)Gct>Act		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)						113.0	95.0	101.0					9																	128000926		2203	4300	6503	SO:0001583	missense	3309	0	0					g.chr9:128000926C>T		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.1177G>A	chr9.hg19:g.128000926C>T	ENSP00000324173:p.Ala393Thr	0	Prostate(1;0.17)					p.A393T	NM_005347.4	NP_005338.1	0	0	0	1.941936	P11021	GRP78_HUMAN		6	1380	-			B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	1	1	hg19	c.1177G>A	CCDS6863.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.158521	0.94686	.	.	ENSG00000044574	ENST00000324460	T	0.01313	5.02	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35450	-0.9788	10	0.87932	D	0	-2.8727	16.4549	0.84009	0.0:1.0:0.0:0.0	.	393	P11021	GRP78_HUMAN	T	393	ENSP00000324173:A393T	ENSP00000324173:A393T	A	-	1	0	0	HSPA5	127040747	127040747	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000				64	64		372	366	1		1	1		0	0	74	0		1	1	0	1448	0	3238	0	64	372
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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)																												ENST00000324460.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.D277Y(1)	large_intestine(1)	23						c.(829-831)Gat>Tat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)						79.0	78.0	78.0					9																	128001387		2203	4300	6503	SO:0001583	missense	3309	0	0					g.chr9:128001387C>A		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	chr9.hg19:g.128001387C>A	ENSP00000324173:p.Asp277Tyr	0	Prostate(1;0.17)				RP11-65N13.8_ENST00000468244.1_RNA	p.D277Y	NM_005347.4	NP_005338.1	0	0	0	1.941936	P11021	GRP78_HUMAN		5	1032	-			B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	1	1	hg19	c.829G>T	CCDS6863.1	1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	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	0	HSPA5	127041208	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	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				55	55		283	275	1		1	1		0	0	50	0		1	1	0	2109	0	2874	0	55	283
HSPA5	3309	broad.mit.edu	37	9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	231					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488										Prostate(1;0.17)																												ENST00000324460.6	1.000000	0.820000	1	9.900000e-01	0.990000	0.986124	0.990000	1.000000																										0				23						c.(691-693)Gat>Aat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)						57.0	61.0	60.0					9																	128001525		2203	4300	6503	SO:0001583	missense	3309	0	0					g.chr9:128001525C>T		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.691G>A	chr9.hg19:g.128001525C>T	ENSP00000324173:p.Asp231Asn	0	Prostate(1;0.17)				RP11-65N13.8_ENST00000468244.1_RNA	p.D231N	NM_005347.4	NP_005338.1	0	0	0	1.941936	P11021	GRP78_HUMAN		5	894	-			B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	1	1	hg19	c.691G>A	CCDS6863.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581633	0.86748	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.16324	2.35	4.36	4.36	0.52297	4.36	4.36	0.52297	Heat shock protein 70, conserved site (1);	0.046186	0.85682	N	0.000000	T	0.45994	0.1370	H	0.99555	4.625	0.80722	D	1	P	0.39624	0.681	B	0.40228	0.323	T	0.70839	-0.4763	10	0.87932	D	0	-13.7685	15.8757	0.79159	0.0:1.0:0.0:0.0	.	231	P11021	GRP78_HUMAN	N	231	ENSP00000324173:D231N	ENSP00000324173:D231N	D	-	1	0	0	HSPA5	127041346	127041346	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	7.795000	0.85887	1.964000	0.57103	0.462000	0.41574	GAT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-3.221938	1	0.170000				25	25		206	204	1		1	1		0	0	43	0		9.999999e-01	1	0	1264	0	4849	0	25	206
GAPVD1	26130	broad.mit.edu	37	9	128099755	128099755	+	Missense_Mutation	SNP	G	G	A	rs138389331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099755G>A	ENST00000495955.1	+	17	3052	c.2762G>A	c.(2761-2763)cGt>cAt	p.R921H	GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R921H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	921					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)			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						TGGAACCGGCGTCCAGGAAAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.001					ENST00000495955.1	0.520000	0.140000	4.100000e-01	2.100000e-01	0.300000	0.318859	0.300000	0.290000																										0				44						c.(2761-2763)cGt>cAt		GTPase activating protein and VPS9 domains 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	74.0	73.0	73.0		2843	6.2	1.0	9	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GAPVD1	NM_015635.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	948/1488	128099755	2,13004	2203	4300	6503	SO:0001583	missense	26130	17	121412	44				g.chr9:128099755G>A		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.2762G>A	chr9.hg19:g.128099755G>A	ENSP00000419063:p.Arg921His	0					GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H	p.R921H			0	0	0	1.941936	Q14C86	GAPD1_HUMAN		17	3052	+			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	0	1	hg19	c.2762G>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.544289|5.544289	0.96488|0.96488	4.54E-4|4.54E-4	0.0|0.0	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57007|0.57007	0.2024|0.2024	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.989;0.984;0.989;0.989;0.989;0.993|.	T|T	0.47381|0.47381	-0.9122|-0.9122	9|5	0.62326|.	D|.	0.03|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	895;921;921;900;921;948|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	H|I	921;948;921;895;900;921;921;921;900|758	.|.	ENSP00000265956:R895H|.	R|V	+|+	2|1	0|0	0|0	GAPVD1|GAPVD1	127139576|127139576	127139576|127139576	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	9.187000|9.187000	0.94912|0.94912	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	0	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-3.531558	1	0.170000				9	7		342	340	0		1	1		0	0	89	0		9.940641e-01	6.291742e-01	0	8	0	71	0	9	342
GAPVD1	26130	broad.mit.edu	37	9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000495955.1	+	17	3069	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R927*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	927					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)			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						AAATGAAGAGCGAGAACTCCC	0.537																																						ENST00000495955.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				44						c.(2779-2781)Cga>Tga		GTPase activating protein and VPS9 domains 1							72.0	71.0	72.0					9																	128099772		2203	4300	6503	SO:0001587	stop_gained	26130	0	0					g.chr9:128099772C>T		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.2779C>T	chr9.hg19:g.128099772C>T	ENSP00000419063:p.Arg927*	0					GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*	p.R927*			0	0	0	1.941936	Q14C86	GAPD1_HUMAN		17	3069	+			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	0	1	hg19	c.2779C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.005336|9.005336	0.99033|0.99033	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	5.8|5.8	3.8|3.8	0.43715|0.43715	5.8|5.8	3.8|3.8	0.43715|0.43715	.|.	.|0.100698	.|0.64402	.|D	.|0.000003	T|.	0.35740|.	0.0942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.06891	.|T	.|0.86	.|.	11.9073|11.9073	0.52719|0.52719	0.5343:0.4657:0.0:0.0|0.5343:0.4657:0.0:0.0	.|.	.|.	.|.	.|.	V|X	763|927;954;927;901;906;927;927;927;906	.|.	.|ENSP00000265956:R901X	A|R	+|+	2|1	0|2	0|2	GAPVD1|GAPVD1	127139593|127139593	127139593|127139593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.862000|1.862000	0.39448|0.39448	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	GCG|CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	1	0	0		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				52	51		274	271	1		1	1		0	0	80	0		1	9.999634e-01	0	4	0	78	0	52	274
GAPVD1	26130	broad.mit.edu	37	9	128104578	128104578	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000495955.1	+	19	3336	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y|GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000470056.1_Intron			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1016					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)			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						AACACTCACAGGTTTGTAGAC	0.403																																						ENST00000495955.1	0.630000	0.240000	5.300000e-01	3.200000e-01	0.410000	0.429585	0.410000	0.410000																										0				44						c.(3046-3048)Gat>Tat		GTPase activating protein and VPS9 domains 1							140.0	134.0	136.0					9																	128104578		2203	4300	6503	SO:0001630	splice_region_variant	26130	0	0					g.chr9:128104578G>T		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.3046+1G>T	chr9.hg19:g.128104578G>T		0					GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y	p.D1016Y			0	0	0	1.941936	Q14C86	GAPD1_HUMAN		19	3336	+			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	ENST00000495955.1	0	1	hg19	c.3046G>T		0	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552272	0.65311	.	.	ENSG00000165219	ENST00000394105;ENST00000394104;ENST00000265956;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.089689	0.85682	D	0.000000	T	0.56761	0.2007	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49559	0.61;0.729;0.729;0.925	B;P;P;P	0.51355	0.372;0.474;0.474;0.667	T	0.48670	-0.9015	9	0.05436	T	0.98	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1016;995;1016;1043	Q14C86;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.	Y	1043;1016;990;1016;1016;995	.	ENSP00000265956:D990Y	D	+	1	0	0	GAPVD1	127144399	127144399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.047000	0.76599	2.885000	0.99019	0.655000	0.94253	GAT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	0	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-2.920853	1	0.170000		Missense_Mutation		16	16		429	422	0		1	0		0	0	89	0		9.999269e-01	7.816845e-01	0	0	0	79	0	16	429
GAPVD1	26130	broad.mit.edu	37	9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000495955.1	+	28	4713	c.4423G>A	c.(4423-4425)Gat>Aat	p.D1475N	GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1430N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1475	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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)			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						TAAAACCATCGATGACCGAAA	0.463																																						ENST00000495955.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(4423-4425)Gat>Aat		GTPase activating protein and VPS9 domains 1							101.0	88.0	92.0					9																	128125011		2203	4300	6503	SO:0001583	missense	26130	0	0					g.chr9:128125011G>A		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.4423G>A	chr9.hg19:g.128125011G>A	ENSP00000419063:p.Asp1475Asn	0					GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1430N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N	p.D1475N			0	0	0	1.941936	Q14C86	GAPD1_HUMAN		28	4713	+			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	1	1	hg19	c.4423G>A		1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148857	0.78001	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.32	5.32	0.75619	5.32	5.32	0.75619	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.48218	1.51	0.80722	D	1	P;P;D;D;D;D	0.57571	0.887;0.943;0.98;0.98;0.98;0.965	P;P;P;P;P;P	0.50082	0.614;0.63;0.61;0.61;0.61;0.61	T	0.08249	-1.0731	10	0.42905	T	0.14	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	1475;490;1430;1436;1457;1484	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1430;1484;1475;1449;1409;1475;1457;1436;168	ENSP00000419767:D1430N;ENSP00000377665:D1484N;ENSP00000377664:D1475N;ENSP00000265956:D1449N;ENSP00000377645:D1409N;ENSP00000419063:D1475N;ENSP00000297933:D1457N;ENSP00000309582:D1436N	ENSP00000265956:D1449N	D	+	1	0	0	GAPVD1	127164832	127164832	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.325000	0.96381	2.628000	0.89032	0.655000	0.94253	GAT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				53	50		226	221	0		1	1		0	0	47	0		1	9.999994e-01	0	5	0	90	0	53	226
PBX3	5090	broad.mit.edu	37	9	128723010	128723010	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373489.5	+	6	907	c.891T>A	c.(889-891)atT>atA	p.I297I	PBX3_ENST00000373487.4_Silent_p.I318I|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	297					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483																																						ENST00000373489.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(889-891)atT>atA		pre-B-cell leukemia homeobox 3							71.0	65.0	67.0					9																	128723010		2203	4300	6503	SO:0001819	synonymous_variant	5090	0	0					g.chr9:128723010T>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.891T>A	chr9.hg19:g.128723010T>A		0					PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000373487.4_Silent_p.I318I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I	p.I297I	NM_006195.5	NP_006186.1	0	0	0	1.941936	P40426	PBX3_HUMAN		6	907	+			E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	1	1	hg19	c.891T>A	CCDS6865.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				54	53		168	165	1		1	1		0	0	47	0		1	9.999998e-01	0	2	0	75	0	54	168
PBX3	5090	broad.mit.edu	37	9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373489.5	+	8	1194	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PBX3_ENST00000373487.4_Missense_Mutation_p.G414E|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	393					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATGGCCTTGGAGGAAATTCA	0.403																																						ENST00000373489.5	1.000000	0.690000	1	9.300000e-01	0.990000	0.966994	0.990000	1.000000																										0				24						c.(1177-1179)gGa>gAa		pre-B-cell leukemia homeobox 3							106.0	96.0	99.0					9																	128725346		2203	4300	6503	SO:0001583	missense	5090	0	0					g.chr9:128725346G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1178G>A	chr9.hg19:g.128725346G>A	ENSP00000362588:p.Gly393Glu	0					PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.G414E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E	p.G393E	NM_006195.5	NP_006186.1	0	0	0	1.941936	P40426	PBX3_HUMAN		8	1194	+			E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	1	1	hg19	c.1178G>A	CCDS6865.1	1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463730	0.63513	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88201	-2.13;1.94;-2.31;-2.35	6.16	6.16	0.99307	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38175	1.15	0.80722	D	1	P;B	0.42078	0.77;0.286	B;B	0.41440	0.357;0.104	T	0.80888	-0.1181	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	414;393	Q5JS98;P40426	.;PBX3_HUMAN	E	393;414;212;318	ENSP00000362588:G393E;ENSP00000362586:G414E;ENSP00000362582:G212E;ENSP00000387456:G318E	ENSP00000362582:G212E	G	+	2	0	0	PBX3	127765167	127765167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-18.803610	1	0.170000				12	12		96	95	1		1	0		0	0	30	0		9.992584e-01	9.539452e-01	0	0	0	45	0	12	96
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000373474.4	1.000000	0.420000	1	6.400000e-01	0.920000	0.853840	0.920000	1.000000																										0				15						c.(649-651)Cgg>Tgg		LIM homeobox transcription factor 1, beta							37.0	39.0	38.0					9																	129455510		2202	4300	6502	SO:0001583	missense	4010	0	0		Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	g.chr9:129455510C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.649C>T	chr9.hg19:g.129455510C>T	ENSP00000362573:p.Arg217Trp	0					LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W	p.R217W			0	0	0	1.941936	O60663	LMX1B_HUMAN		4	656	+			F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	1	1	hg19	c.649C>T	CCDS55342.1	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	2	LMX1B	128495331	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-12.013300	1	0.170000				7	7		79	78	0		1	0		0	0	21	0		9.813275e-01	9.193054e-03	0	0	0	2	0	7	79
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000373474.4	+	8	1124	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	373					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000373474.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1117-1119)Ctc>Ttc		LIM homeobox transcription factor 1, beta							113.0	113.0	113.0					9																	129458638		2203	4300	6503	SO:0001583	missense	4010	0	0		Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	g.chr9:129458638C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1117C>T	chr9.hg19:g.129458638C>T	ENSP00000362573:p.Leu373Phe	0					LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F	p.L373F			0	0	0	1.941936	O60663	LMX1B_HUMAN		8	1124	+			F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	1	1	hg19	c.1117C>T	CCDS55342.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750558	0.49257	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.19	4.29	0.51040	5.19	4.29	0.51040	.	0.058355	0.64402	D	0.000005	T	0.76962	0.4061	L	0.43923	1.385	0.50039	D	0.999844	P;P;P	0.49307	0.868;0.922;0.919	P;P;P	0.53912	0.494;0.526;0.737	T	0.73474	-0.3971	10	0.31617	T	0.26	.	9.3609	0.38195	0.0:0.8364:0.0:0.1636	.	354;350;366	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	F	366;373;377;343	ENSP00000436930:L366F;ENSP00000362573:L373F;ENSP00000347684:L377F;ENSP00000390923:L343F	ENSP00000347684:L377F	L	+	1	0	0	LMX1B	128498459	128498459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.768000	0.38511	1.183000	0.42943	0.561000	0.74099	CTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	1	0	0		2	2	2	0		0	0	163		163	161	1	2.060000	-20.000000	1	0.170000				213	208		822	810	1		1	0		0	0	163	0		1	4.266182e-02	0	0	0	2	0	213	822
LMX1B	4010	broad.mit.edu	37	9	129458652	129458652	+	Silent	SNP	C	C	T	rs529256518		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000373474.4	+	8	1138	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000561065.1_Silent_p.D358D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	377					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTCCTCAGACGTGGGCTCCC	0.637									Nail-Patella Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		14216	0.0		0.0	False		,,,				2504	0.001				Pancreas(110;1796 2278 18357 20466)	ENST00000373474.4	0.510000	0.260000	4.500000e-01	3.100000e-01	0.370000	0.386193	0.370000	0.380000																										0				15						c.(1129-1131)gaC>gaT		LIM homeobox transcription factor 1, beta							109.0	111.0	110.0					9																	129458652		2203	4300	6503	SO:0001819	synonymous_variant	4010	4	121412	37	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	g.chr9:129458652C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1131C>T	chr9.hg19:g.129458652C>T		0					LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000425646.2_Silent_p.D347D	p.D377D			0	0	0	1.941936	O60663	LMX1B_HUMAN		8	1138	+			F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	1	1	hg19	c.1131C>T	CCDS55342.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	0	0	0		2	2	2	0		0	0	158		158	156	1	2.060000	-3.271795	1	0.170000				35	35		1024	1008	0		1	1		0	0	158	0		1	3.461865e-03	0	2	0	1	0	35	1024
ZBTB34	403341	broad.mit.edu	37	9	129642452	129642452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000373452.2	+	1	826	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ZBTB34_ENST00000319119.4_Silent_p.D258D			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	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.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	0.557																																						ENST00000373452.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D258D(1)	upper_aerodigestive_tract(1)	12						c.(760-762)gaC>gaT		zinc finger and BTB domain containing 34							112.0	119.0	117.0					9																	129642452		2096	4223	6319	SO:0001819	synonymous_variant	403341	0	0					g.chr9:129642452C>T	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.762C>T	chr9.hg19:g.129642452C>T		0					ZBTB34_ENST00000319119.4_Silent_p.D258D	p.D254D			0	0	0	1.941936	Q8NCN2	ZBT34_HUMAN		1	826	+			Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	1	1	hg19	c.762C>T	CCDS48023.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	124		124	121	1	2.060000	-20.000000	1	0.170000	NM_001099270			74	73		439	428	1		1	1		0	0	124	0		1	5.792577e-01	0	3	0	10	0	74	439
RALGPS1	9649	broad.mit.edu	37	9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	178	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)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363																																						ENST00000259351.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(532-534)Atg>Ctg		Ral GEF with PH domain and SH3 binding motif 1							100.0	101.0	101.0					9																	129831557		2203	4300	6503	SO:0001583	missense	9649	0	0					g.chr9:129831557A>C	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.532A>C	chr9.hg19:g.129831557A>C	ENSP00000259351:p.Met178Leu	0					RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L	p.M178L	NM_014636.2	NP_055451.1	0	0	0	1.941936	Q5JS13	RGPS1_HUMAN		8	799	+			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	1	1	hg19	c.532A>C	CCDS35143.1	1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117738	0.08881	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.34	4.2	0.49525	5.34	4.2	0.49525	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.246145	0.42682	D	0.000675	T	0.16981	0.0408	N	0.16478	0.41	0.24790	N	0.992763	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.003;0.004;0.005	T	0.16453	-1.0402	10	0.28530	T	0.3	.	7.1063	0.25366	0.6705:0.2538:0.0757:0.0	.	178;178;178;178	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	178;178;178;178;148;178;178	ENSP00000259351:M178L;ENSP00000415630:M178L;ENSP00000377590:M178L;ENSP00000317149:M148L;ENSP00000362535:M178L;ENSP00000362533:M178L	ENSP00000259351:M178L	M	+	1	0	0	RALGPS1	128871378	128871378	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.304000	0.65744	0.989000	0.38761	-0.276000	0.10085	ATG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_014636			66	65		242	240	1		1	1		0	0	71	0		1	9.933360e-01	0	10	0	21	0	66	242
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					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)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537																																						ENST00000259351.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1111-1113)gaC>gaT		Ral GEF with PH domain and SH3 binding motif 1							175.0	158.0	164.0					9																	129958828		2203	4300	6503	SO:0001819	synonymous_variant	9649	0	0					g.chr9:129958828C>T	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.1113C>T	chr9.hg19:g.129958828C>T		0					RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	p.D371D	NM_014636.2	NP_055451.1	0	0	0	1.941936	Q5JS13	RGPS1_HUMAN		13	1380	+			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	1	1	hg19	c.1113C>T	CCDS35143.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	1	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_014636			80	80		390	384	0		1	0		0	0	120	0		1	1.390782e-01	0	1	0	3	0	80	390
RALGPS1	9649	broad.mit.edu	37	9	129961313	129961313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129961313G>A	ENST00000259351.5	+	14	1482	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	405					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)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAGCTCAGAGTTTAGTGAAG	0.597											OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5	0.430000	0.160000	3.600000e-01	2.100000e-01	0.270000	0.289338	0.270000	0.270000																										0				19						c.(1213-1215)gaG>gaA		Ral GEF with PH domain and SH3 binding motif 1							206.0	192.0	197.0					9																	129961313		2203	4300	6503	SO:0001819	synonymous_variant	9649	0	0					g.chr9:129961313G>A	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.1215G>A	chr9.hg19:g.129961313G>A		0		OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	p.E405E	NM_014636.2	NP_055451.1	0	0	0	1.941936	Q5JS13	RGPS1_HUMAN		14	1482	+			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	0	1	hg19	c.1215G>A	CCDS35143.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	0	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-3.253690	1	0.170000	NM_014636			15	15		610	595	0		1	0		0	0	114	0		9.998467e-01	9.597403e-03	0	0	0	6	0	15	610
RALGPS1	9649	broad.mit.edu	37	9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A	rs199937278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K|RP13-225O21.2_ENST00000453199.1_RNA	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	505	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				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)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.0					ENST00000259351.5	1.000000	0.970000	1	9.900000e-01	0.990000	0.998035	0.990000	1.000000																										0				19						c.(1513-1515)Gag>Aag		Ral GEF with PH domain and SH3 binding motif 1							62.0	60.0	61.0					9																	129975289		2203	4300	6503	SO:0001583	missense	9649	0	0					g.chr9:129975289G>A	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.1513G>A	chr9.hg19:g.129975289G>A	ENSP00000259351:p.Glu505Lys	0					RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K	p.E505K	NM_014636.2	NP_055451.1	0	0	0	1.941936	Q5JS13	RGPS1_HUMAN		17	1780	+			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	1	1	hg19	c.1513G>A	CCDS35143.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.48	2.547441	0.45383	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.76186	-1.0;-1.0;-1.0	5.46	5.46	0.80206	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.173457	0.49916	D	0.000135	T	0.66386	0.2784	L	0.40543	1.245	0.40964	D	0.984648	B;B;P	0.39576	0.05;0.069;0.679	B;B;B	0.36289	0.013;0.005;0.221	T	0.64643	-0.6359	10	0.15499	T	0.54	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	463;455;505	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	K	505;463;455	ENSP00000259351:E505K;ENSP00000415630:E463K;ENSP00000362533:E455K	ENSP00000259351:E505K	E	+	1	0	0	RALGPS1	129015110	129015110	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.017796	1	0.170000	NM_014636			38	38		282	278	1		1	1		0	0	63	0		1	9.025551e-01	0	11	0	21	0	38	282
SLC2A8	29988	broad.mit.edu	37	9	130167730	130167730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130167730G>A	ENST00000373371.3	+	9	1271	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	394					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCATCCCCTGGCTCCTCATGT	0.627																																						ENST00000373371.3	0.490000	0.110000	3.800000e-01	1.800000e-01	0.260000	0.287067	0.260000	0.250000																										0				11						c.(1180-1182)tgG>tgA		solute carrier family 2 (facilitated glucose transporter), member 8							78.0	69.0	72.0					9																	130167730		2203	4299	6502	SO:0001587	stop_gained	29988	0	0					g.chr9:130167730G>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1182G>A	chr9.hg19:g.130167730G>A	ENSP00000362469:p.Trp394*	0					SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	p.W394*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	0	0	0	1.941936	Q9NY64	GTR8_HUMAN		9	1271	+			Q8WUZ9|Q9NSC4	Nonsense_Mutation	SNP	ENST00000373371.3	0	1	hg19	c.1182G>A	CCDS6870.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.151307	0.94645	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.056509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	.	.	.	X	394;231;131;233;259;259;233	.	ENSP00000362448:W259X	W	+	3	0	0	SLC2A8	129207551	129207551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	TGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	0	0	1		2	2	2	0		0	0	56		56	54	1	2.060000	-7.446800	1	0.170000	NM_014580			7	7		304	304	0		1	1		0	0	56	0		9.809214e-01	2.989237e-01	0	3	0	40	0	7	304
ZNF79	7633	broad.mit.edu	37	9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557																																						ENST00000342483.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(907-909)aaG>aaT		zinc finger protein 79		G	ASN/LYS	0,4406		0,0,2203	120.0	105.0	110.0		909	-4.4	0.5	9	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF79	NM_007135.2	94	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	303/499	130206888	2,13004	2203	4300	6503	SO:0001583	missense	7633	9	121412	41				g.chr9:130206888G>T	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.909G>T	chr9.hg19:g.130206888G>T	ENSP00000362446:p.Lys303Asn	0					ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	p.K303N	NM_007135.2	NP_009066.2	0	0	0	1.941936	Q15937	ZNF79_HUMAN		5	1315	+			Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	1	1	hg19	c.909G>T	CCDS6871.1	1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	0.0	2.33E-4	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.26067	1.76;1.76	3.83	-4.36	0.03645	3.83	-4.36	0.03645	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.69463	2.115	0.39429	D	0.967041	D	0.71674	0.998	D	0.68483	0.958	T	0.49224	-0.8962	9	0.87932	D	0	.	11.344	0.49550	0.7632:0.0:0.2368:0.0	.	303	Q15937	ZNF79_HUMAN	N	303;279	ENSP00000362446:K303N;ENSP00000438418:K279N	ENSP00000362446:K303N	K	+	3	2	2	ZNF79	129246709	129246709	0.854000	0.29725	0.516000	0.27786	0.938000	0.57974	-0.018000	0.12568	-1.111000	0.02988	-0.136000	0.14681	AAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	0	0	1		2	2	2	0		0	0	125		125	123	1	2.060000	-20.000000	1	0.170000	NM_007135			86	81		419	411	1		1	1		0	0	125	0		1	9.844424e-01	0	7	0	27	0	86	419
LRSAM1	90678	broad.mit.edu	37	9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	184					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582																																						ENST00000323301.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				16						c.(550-552)gCc>gAc		leucine rich repeat and sterile alpha motif containing 1							84.0	58.0	67.0					9																	130230041		2203	4300	6503	SO:0001583	missense	90678	0	0					g.chr9:130230041C>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.551C>A	chr9.hg19:g.130230041C>A	ENSP00000322937:p.Ala184Asp	0					LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D	p.A184D	NM_138361.5	NP_612370.3	0	0	0	1.941936	Q6UWE0	LRSM1_HUMAN		9	1155	+			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	1	1	hg19	c.551C>A	CCDS6873.1	1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570305	0.13560	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76448	0.7;-1.02;0.7;0.7	5.46	3.43	0.39272	5.46	3.43	0.39272	.	0.945370	0.09009	N	0.861813	T	0.70894	0.3276	L	0.36672	1.1	0.31744	N	0.635413	B;B	0.20988	0.05;0.03	B;B	0.29176	0.099;0.022	T	0.65553	-0.6140	10	0.25751	T	0.34	-1.6772	11.3735	0.49713	0.0:0.6447:0.3553:0.0	.	184;184	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	184	ENSP00000300417:A184D;ENSP00000362421:A184D;ENSP00000322937:A184D;ENSP00000362419:A184D	ENSP00000300417:A184D	A	+	2	0	0	LRSAM1	129269862	129269862	0.940000	0.31905	0.781000	0.31783	0.142000	0.21351	1.837000	0.39201	1.252000	0.44001	0.561000	0.74099	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_138361			26	26		66	66	1		1	1		0	0	19	0		1	9.999999e-01	0	25	0	54	0	26	66
LRSAM1	90678	broad.mit.edu	37	9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	451					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTGCAGAGCGCGATGCAGAAG	0.607																																						ENST00000323301.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.988763	0.990000	1.000000																										0				16						c.(1351-1353)gCg>gTg		leucine rich repeat and sterile alpha motif containing 1							53.0	44.0	47.0					9																	130251727		2203	4299	6502	SO:0001583	missense	90678	5	121376	35				g.chr9:130251727C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1352C>T	chr9.hg19:g.130251727C>T	ENSP00000322937:p.Ala451Val	0					LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR	p.A451V	NM_138361.5	NP_612370.3	0	0	0	1.941936	Q6UWE0	LRSM1_HUMAN		18	1956	+			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	1	1	hg19	c.1352C>T	CCDS6873.1	1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114392	0.06881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.75704	1.46;-0.96;1.46;1.46	5.62	2.17	0.27698	5.62	2.17	0.27698	.	0.420350	0.26761	N	0.022630	T	0.53690	0.1812	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38607	-0.9653	10	0.30854	T	0.27	-0.1491	7.8298	0.29336	0.3344:0.5757:0.0:0.0899	.	451;451	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	451	ENSP00000300417:A451V;ENSP00000362421:A451V;ENSP00000322937:A451V;ENSP00000362419:A451V	ENSP00000300417:A451V	A	+	2	0	0	LRSAM1	129291548	129291548	0.921000	0.31238	0.033000	0.17914	0.218000	0.24690	2.470000	0.45119	0.641000	0.30601	0.555000	0.69702	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	0		2	2	2	0		0	0	22		22	21	1	2.060000	-18.439810	1	0.170000	NM_138361			10	10		55	54	1		1	1		0	0	22	0		9.974440e-01	9.995542e-01	0	25	0	61	0	10	55
LRSAM1	90678	broad.mit.edu	37	9	130251746	130251746	+	Silent	SNP	C	C	T	rs571925919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	457					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F457F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612																																						ENST00000323301.4	1.000000	0.860000	1	9.900000e-01	0.990000	0.991640	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F457F(1)	endometrium(1)	16						c.(1369-1371)ttC>ttT		leucine rich repeat and sterile alpha motif containing 1							60.0	49.0	53.0					9																	130251746		2203	4299	6502	SO:0001819	synonymous_variant	90678	2	121376	26				g.chr9:130251746C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1371C>T	chr9.hg19:g.130251746C>T		0					LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR	p.F457F	NM_138361.5	NP_612370.3	0	0	0	1.941936	Q6UWE0	LRSM1_HUMAN		18	1975	+			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	1	1	hg19	c.1371C>T	CCDS6873.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	0		2	2	2	0		0	0	25		25	25	1	2.060000	-19.929590	1	0.170000	NM_138361			12	11		69	69	1		1	1		0	0	25	0		9.993134e-01	9.997609e-01	0	29	0	65	0	12	69
FAM129B	64855	broad.mit.edu	37	9	130269379	130269380	+	Missense_Mutation	DNP	CC	CC	TT	rs374739971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379_130269380CC>TT	ENST00000373312.3	-	14	2198_2199	c.1985_1986GG>AA	c.(1984-1986)cGG>cAA	p.R662Q	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTCTCAGGCCGCAGACCTTG	0.728																																						ENST00000373312.3	1.000000	0.710000|0.700000	1	9.900000e-01|9.800000e-01	0.990000	0.975510|0.974180	0.990000	1.000000																										0				25						c.(1984-1986)cgG>cgA|c.(1984-1986)cGg>cAg		family with sequence similarity 129, member B																																				SO:0001583	missense	64855	0|2	0|119580	|28				g.chr9:130269379C>T|g.chr9:130269380C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1985_1986delinsTT	chr9.hg19:g.130269379_130269380delinsTT	ENSP00000362409:p.Arg662Gln	0					FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Silent_p.R649R|FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	p.R662R|p.R662Q	NM_022833.2	NP_073744.2	0	0	0	1.941936	Q96TA1	NIBL1_HUMAN		14	2199|2198	-			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent|Missense_Mutation	SNP	ENST00000373312.3	0	1	hg19	c.1986G>A|c.1985G>A	CCDS35145.1	1																									|5.28	|-4.33	|0.03677																																												|0			|129309201														1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.728	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-17.085320|-16.922810	1	0.170000	NM_022833			9	9		59|60	59|60	0		1	1		0	0	10	0		9.952879e-01|9.952718e-01	9.999999e-01	0	124|126	0	232|236	0	9	59
FAM129B	64855	broad.mit.edu	37	9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	634					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687																																						ENST00000373312.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999727	0.990000	1.000000																										0				25						c.(1900-1902)Ccc>Tcc		family with sequence similarity 129, member B							29.0	26.0	27.0					9																	130269465		2201	4299	6500	SO:0001583	missense	64855	0	0					g.chr9:130269465G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1900C>T	chr9.hg19:g.130269465G>A	ENSP00000362409:p.Pro634Ser	0					FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	p.P634S	NM_022833.2	NP_073744.2	0	0	0	1.941936	Q96TA1	NIBL1_HUMAN		14	2113	-			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	1	1	hg19	c.1900C>T	CCDS35145.1	1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237203	0.39498	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24538	1.85;1.85	5.25	3.38	0.38709	5.25	3.38	0.38709	.	0.053669	0.85682	N	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.40266	D	0.978236	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12016	-1.0564	10	0.40728	T	0.16	-27.8978	4.6178	0.12435	0.1807:0.0:0.644:0.1753	.	621;634	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	621;284;634	ENSP00000362411:P621S;ENSP00000362409:P634S	ENSP00000362409:P634S	P	-	1	0	0	FAM129B	129309286	129309286	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.216000	0.58540	1.344000	0.45657	-0.291000	0.09656	CCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_022833			23	23		111	111	1		1	1		0	0	22	0		9.999997e-01	1	0	96	0	196	0	23	111
FAM129B	64855	broad.mit.edu	37	9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	509					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622																																						ENST00000373312.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1525-1527)Gcc>Acc		family with sequence similarity 129, member B							63.0	67.0	65.0					9																	130270389		2203	4300	6503	SO:0001583	missense	64855	1	121410	32				g.chr9:130270389C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1525G>A	chr9.hg19:g.130270389C>T	ENSP00000362409:p.Ala509Thr	0					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	p.A509T	NM_022833.2	NP_073744.2	0	0	0	1.941936	Q96TA1	NIBL1_HUMAN		12	1738	-			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	1	1	hg19	c.1525G>A	CCDS35145.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092529	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26660	1.72;1.72	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.353689	0.32134	N	0.006534	T	0.34019	0.0883	M	0.71036	2.16	0.45567	D	0.998511	D;P;P	0.53462	0.96;0.921;0.921	B;P;P	0.44772	0.384;0.46;0.46	T	0.21381	-1.0247	10	0.42905	T	0.14	-32.6963	15.6228	0.76820	0.0:1.0:0.0:0.0	.	159;496;509	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	T	496;159;509	ENSP00000362411:A496T;ENSP00000362409:A509T	ENSP00000362409:A509T	A	-	1	0	0	FAM129B	129310210	129310210	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.837000	0.27558	2.266000	0.75297	0.561000	0.74099	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0		2	2	2	0		0	0	122		122	120	1	2.060000	-3.319702	1	0.170000	NM_022833			75	74		426	419	1		1	1		0	0	122	0		1	1	0	241	0	596	0	75	426
FAM129B	64855	broad.mit.edu	37	9	130270429	130270429	+	Silent	SNP	C	C	T	rs570624473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	495					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.001					ENST00000373312.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				25						c.(1483-1485)gcG>gcA		family with sequence similarity 129, member B							61.0	65.0	64.0					9																	130270429		2203	4300	6503	SO:0001819	synonymous_variant	64855	33	121412	45				g.chr9:130270429C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1485G>A	chr9.hg19:g.130270429C>T		0					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	p.A495A	NM_022833.2	NP_073744.2	0	0	0	1.941936	Q96TA1	NIBL1_HUMAN		12	1698	-			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	1	1	hg19	c.1485G>A	CCDS35145.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_022833			60	57		372	368	1		1	1		0	0	84	0		1	1	0	178	0	663	0	60	372
STXBP1	6812	broad.mit.edu	37	9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373299.1	+	7	564	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A150V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	150					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGGACTCTGCTGACTCTTTC	0.478																																						ENST00000373299.1	0.600000	0.290000	5.200000e-01	3.500000e-01	0.430000	0.443306	0.430000	0.430000																										0				23						c.(448-450)gCt>gTt		syntaxin binding protein 1							93.0	95.0	94.0					9																	130425503		2203	4300	6503	SO:0001583	missense	6812	0	0					g.chr9:130425503C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.449C>T	chr9.hg19:g.130425503C>T	ENSP00000362396:p.Ala150Val	0					STXBP1_ENST00000373302.3_Missense_Mutation_p.A150V	p.A150V	NM_001032221.3	NP_001027392.1	0	0	0	1.941936	P61764	STXB1_HUMAN		7	564	+			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	1	1	hg19	c.449C>T	CCDS35146.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038450	0.75617	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.80480	-1.38;-1.38	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.046500	0.85682	D	0.000000	T	0.67468	0.2896	N	0.08118	0	0.51233	D	0.999913	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.64381	-0.6421	10	0.66056	D	0.02	-0.806	17.2139	0.86937	0.0:1.0:0.0:0.0	.	150;150	P61764;P61764-2	STXB1_HUMAN;.	V	104;150;150	ENSP00000362399:A150V;ENSP00000362396:A150V	ENSP00000362396:A150V	A	+	2	0	0	STXBP1	129465324	129465324	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.598000	0.82745	2.661000	0.90470	0.561000	0.74099	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-3.979332	1	0.170000	NM_003165			27	26		688	673	0		1	1		0	0	136	0		9.999999e-01	9.408290e-01	0	4	0	118	0	27	688
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373299.1	+	7	675	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373302.3_Missense_Mutation_p.P187L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612																																						ENST00000373299.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(559-561)cCg>cTg		syntaxin binding protein 1							78.0	74.0	76.0					9																	130425614		2203	4300	6503	SO:0001583	missense	6812	0	0					g.chr9:130425614C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.560C>T	chr9.hg19:g.130425614C>T	ENSP00000362396:p.Pro187Leu	0					STXBP1_ENST00000373302.3_Missense_Mutation_p.P187L	p.P187L	NM_001032221.3	NP_001027392.1	0	0	0	1.941936	P61764	STXB1_HUMAN		7	675	+			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	1	1	hg19	c.560C>T	CCDS35146.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.105039	0.94245	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	2.0289	17.2139	0.86937	0.0:1.0:0.0:0.0	.	187;187	P61764;P61764-2	STXB1_HUMAN;.	L	141;187;187	ENSP00000362399:P187L;ENSP00000362396:P187L	ENSP00000362396:P187L	P	+	2	0	0	STXBP1	129465435	129465435	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.661000	0.83786	2.661000	0.90470	0.561000	0.74099	CCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-2.738502	1	0.170000	NM_003165			106	103		442	431	1		1	1		0	0	107	0		1	1	0	32	0	84	0	106	442
STXBP1	6812	broad.mit.edu	37	9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373299.1	+	10	938	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R275W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592																																						ENST00000373299.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				23						c.(823-825)Cgg>Tgg		syntaxin binding protein 1							98.0	85.0	90.0					9																	130430387		2203	4300	6503	SO:0001583	missense	6812	1	121412	35				g.chr9:130430387C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.823C>T	chr9.hg19:g.130430387C>T	ENSP00000362396:p.Arg275Trp	0					STXBP1_ENST00000373302.3_Missense_Mutation_p.R275W	p.R275W	NM_001032221.3	NP_001027392.1	0	0	0	1.941936	P61764	STXB1_HUMAN		10	938	+			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	1	1	hg19	c.823C>T	CCDS35146.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897959	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.95	4.09	0.47781	5.95	4.09	0.47781	.	0.051872	0.85682	N	0.000000	D	0.88284	0.6395	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.663	D	0.89115	0.3499	10	0.72032	D	0.01	-24.1287	13.7543	0.62926	0.2788:0.7212:0.0:0.0	.	275;275	P61764;P61764-2	STXB1_HUMAN;.	W	229;275;107;275	ENSP00000362399:R275W;ENSP00000362396:R275W	ENSP00000362396:R275W	R	+	1	2	2	STXBP1	129470208	129470208	0.889000	0.30405	0.703000	0.30354	0.505000	0.33919	1.803000	0.38863	0.834000	0.34852	0.491000	0.48974	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-3.341901	1	0.170000	NM_003165			41	40		217	216	1		1	1		0	0	42	0		1	9.999363e-01	0	19	0	61	0	41	217
C9orf117	286207	broad.mit.edu	37	9	130474155	130474155	+	Silent	SNP	C	C	T	rs191601743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	ENST00000373295.2	+	5	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	304										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAAGGAGGCCGAGGAGCTGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18821	0.0		0.0	False		,,,				2504	0.0					ENST00000373295.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998892	0.990000	1.000000																										0				6						c.(910-912)gcC>gcT		chromosome 9 open reading frame 117							16.0	20.0	18.0					9																	130474155		2159	4260	6419	SO:0001819	synonymous_variant	286207	1	120644	32				g.chr9:130474155C>T	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.912C>T	chr9.hg19:g.130474155C>T		0					C9orf117_ENST00000373293.5_5'Flank	p.A304A	NM_001012502.2	NP_001012520.2	0	0	0	1.941936	Q5JU67	CI117_HUMAN		5	952	+			A5D8T9	Silent	SNP	ENST00000373295.2	1	1	hg19	c.912C>T	CCDS43878.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-11.842790	1	0.170000	NM_001012502			12	11		37	36	1		1	1		0	0	13	0		9.993701e-01	3.770259e-01	0	3	0	2	0	12	37
PTRH1	138428	broad.mit.edu	37	9	130477948	130477948	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477948C>A	ENST00000419060.1	-	0	1427				C9orf117_ENST00000373293.5_3'UTR|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame|PTRH1_ENST00000543175.1_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						ACACCGCCCCCTGACGTCATC	0.647																																						ENST00000419060.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999365	0.990000	1.000000																										0				1								peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							16.0	18.0	17.0					9																	130477948		2198	4295	6493			138428	0	0					g.chr9:130477948C>A	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.-30G>T	chr9.hg19:g.130477948C>A		0					PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000464092.1_3'UTR				0	0	0	1.941936	Q86Y79	PTH_HUMAN		0	1427	-				Translation_Start_Site	SNP	ENST00000419060.1	0	1	hg19		CCDS35147.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	0	0	0		2	2	2	0		0	0	11		11	10	1	2.060000	-20.000000	1	0.170000	NM_001002913			18	18		81	78	0		1	0		0	0	11	0		9.999875e-01	1.659252e-01	0	0	0	4	0	18	81
PTRH1	138428	broad.mit.edu	37	9	130477960	130477960	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477960C>T	ENST00000419060.1	-	0	1415				C9orf117_ENST00000373293.5_3'UTR|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000423807.1_De_novo_Start_InFrame|PTRH1_ENST00000543175.1_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						GACGTCATCACCCCGCAGCAG	0.667																																						ENST00000419060.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998759	0.990000	1.000000																										0				1								peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							13.0	14.0	14.0					9																	130477960		2194	4284	6478			138428	0	0					g.chr9:130477960C>T	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710		chr9.hg19:g.130477960C>T		0					PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_InFrame|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000464092.1_3'UTR				0	0	0	1.941936	Q86Y79	PTH_HUMAN		0	1415	-				Translation_Start_Site	SNP	ENST00000419060.1	0	1	hg19		CCDS35147.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	0	0	0		2	2	2	0		0	0	10		10	9	1	2.060000	-20.000000	1	0.170000	NM_001002913			16	16		74	72	0		1	0		0	0	10	0		9.999539e-01	0	0	0	0	1	0	16	74
TTC16	158248	broad.mit.edu	37	9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	50										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532																																						ENST00000373289.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(148-150)Cca>Aca		tetratricopeptide repeat domain 16							125.0	109.0	114.0					9																	130479252		2203	4300	6503	SO:0001583	missense	158248	0	0					g.chr9:130479252C>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.148C>A	chr9.hg19:g.130479252C>A	ENSP00000362386:p.Pro50Thr	0					PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank	p.P50T	NM_144965.1	NP_659402.1	0	0	0	1.941936	Q8NEE8	TTC16_HUMAN		2	228	+			B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	1	1	hg19	c.148C>A	CCDS6875.1	1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880479	0.33255	.	.	ENSG00000167094	ENST00000373289	T	0.16324	2.35	3.8	1.89	0.25635	3.8	1.89	0.25635	.	0.956369	0.08540	N	0.930685	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.922	T	0.19712	-1.0297	10	0.35671	T	0.21	-0.42	5.2921	0.15733	0.0:0.6748:0.2087:0.1165	.	50;50	B4DZ42;Q8NEE8	.;TTC16_HUMAN	T	50	ENSP00000362386:P50T	ENSP00000362386:P50T	P	+	1	0	0	TTC16	129519073	129519073	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.491000	0.22419	0.384000	0.24942	-0.502000	0.04539	CCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	1	0	1		2	2	2	0		0	0	83		83	82	1	2.060000	-20.000000	1	0.170000	NM_144965			54	54		212	209	1		1			0	0	83	0		1	0	0	0	0	0	0	54	212
TTC16	158248	broad.mit.edu	37	9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	258										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647																																						ENST00000373289.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				22						c.(772-774)gCg>gTg		tetratricopeptide repeat domain 16							62.0	58.0	59.0					9																	130485513		2203	4300	6503	SO:0001583	missense	158248	2	121300	36				g.chr9:130485513C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.773C>T	chr9.hg19:g.130485513C>T	ENSP00000362386:p.Ala258Val	0					TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V	p.A258V	NM_144965.1	NP_659402.1	0	0	0	1.941936	Q8NEE8	TTC16_HUMAN		7	853	+			B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	1	1	hg19	c.773C>T	CCDS6875.1	1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787800	0.49997	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.64991	2.18;-0.13	4.99	4.99	0.66335	4.99	4.99	0.66335	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.76328	2.33	0.20975	N	0.999814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70313	-0.4906	10	0.72032	D	0.01	-27.8116	13.6986	0.62595	0.0:1.0:0.0:0.0	.	245;210;258	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	V	258;82;203	ENSP00000362386:A258V;ENSP00000377349:A82V	ENSP00000319048:A203V	A	+	2	0	0	TTC16	129525334	129525334	0.957000	0.32711	0.133000	0.22050	0.022000	0.10575	2.502000	0.45398	2.619000	0.88677	0.456000	0.33151	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.336503	1	0.170000	NM_144965			44	41		235	235	1		1			0	0	70	0		1	0	0	0	0	0	0	44	235
SH2D3C	10044	broad.mit.edu	37	9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	851	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)			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						GCAGGTTCCAGCTTGTGGGAC	0.637																																						ENST00000314830.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.998109	0.990000	1.000000																										0				28						c.(2551-2553)Ctg>Atg		SH2 domain containing 3C							66.0	53.0	58.0					9																	130501057		2202	4300	6502	SO:0001583	missense	10044	0	0					g.chr9:130501057G>T	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.2551C>A	chr9.hg19:g.130501057G>T	ENSP00000317817:p.Leu851Met	0					SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M	p.L851M	NM_170600.2	NP_733745.1	0	0	0	1.941936	Q8N5H7	SH2D3_HUMAN		12	2664	-			A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	1	1	hg19	c.2551C>A	CCDS6877.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119480	0.77323	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.36520	2.13;2.15;1.83;2.14;1.25;2.02	5.76	2.77	0.32553	5.76	2.77	0.32553	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.065135	0.64402	D	0.000005	T	0.45478	0.1344	M	0.79926	2.475	0.58432	D	0.999996	P;P;P;B;P	0.46142	0.554;0.873;0.81;0.301;0.856	B;P;B;B;P	0.48141	0.262;0.549;0.187;0.243;0.568	T	0.46789	-0.9166	10	0.72032	D	0.01	-15.1161	7.9297	0.29895	0.1462:0.133:0.7208:0.0	.	691;851;783;694;693	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	694;693;783;691;497;851	ENSP00000362374:L694M;ENSP00000388536:L693M;ENSP00000362373:L783M;ENSP00000362371:L691M;ENSP00000394632:L497M;ENSP00000317817:L851M	ENSP00000317817:L851M	L	-	1	2	2	SH2D3C	129540878	129540878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.820000	0.62671	0.772000	0.33382	0.655000	0.94253	CTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999610	1	0.170000	NM_005489			12	12		45	44	1		1	0		0	0	13	0		9.994023e-01	9.974942e-01	0	1	0	43	0	12	45
SH2D3C	10044	broad.mit.edu	37	9	130511771	130511771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000373274.3_Silent_p.E126E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	286	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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						AGCTCTCCTGCTCAAACAGGT	0.592																																						ENST00000314830.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				28						c.(856-858)gaG>gaA		SH2 domain containing 3C							104.0	88.0	93.0					9																	130511771		2203	4300	6503	SO:0001819	synonymous_variant	10044	0	0					g.chr9:130511771C>T	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.858G>A	chr9.hg19:g.130511771C>T		0					SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.E126E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000373276.3_Silent_p.E218E	p.E286E	NM_170600.2	NP_733745.1	0	0	0	1.941936	Q8N5H7	SH2D3_HUMAN		5	971	-			A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	1	1	hg19	c.858G>A	CCDS6877.1	1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045880	0.19748	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	4.58	0.56647	5.67	4.58	0.56647	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	-0.3882	14.6077	0.68493	0.0:0.9177:0.0:0.0823	.	.	.	.	N	123	.	.	S	-	2	0	0	SH2D3C	129551592	129551592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	2.686000	0.91538	0.561000	0.74099	AGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-19.999060	1	0.170000	NM_005489			37	36		156	153	1		1	1		0	0	43	0		1	9.532609e-01	0	2	0	22	0	37	156
SH2D3C	10044	broad.mit.edu	37	9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373277.4_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	63					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)			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						GGCTGGGGGACTCTTGGGCAC	0.582																																						ENST00000314830.8	0.760000	0.260000	6.200000e-01	3.500000e-01	0.470000	0.492679	0.470000	0.460000																										0				28						c.(187-189)aGt>aTt		SH2 domain containing 3C							54.0	51.0	52.0					9																	130536596		2203	4300	6503	SO:0001583	missense	10044	0	0					g.chr9:130536596C>A	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.188G>T	chr9.hg19:g.130536596C>A	ENSP00000317817:p.Ser63Ile	0					SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373277.4_5'Flank	p.S63I	NM_170600.2	NP_733745.1	0	0	0	1.941936	Q8N5H7	SH2D3_HUMAN		2	301	-			A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	1	1	hg19	c.188G>T	CCDS6877.1	0	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389461	0.82902	.	.	ENSG00000095370	ENST00000314830	T	0.15487	2.42	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.083709	0.51477	D	0.000084	T	0.32346	0.0826	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.01884	-1.1254	10	0.87932	D	0	-0.9201	15.5724	0.76349	0.0:1.0:0.0:0.0	.	63	Q8N5H7	SH2D3_HUMAN	I	63	ENSP00000317817:S63I	ENSP00000317817:S63I	S	-	2	0	0	SH2D3C	129576417	129576417	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.910000	0.63321	2.546000	0.85860	0.561000	0.74099	AGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	0	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-13.482080	1	0.170000	NM_005489			12	12		282	276	0		1	0		0	0	71	0		9.990559e-01	2.070252e-03	0	0	0	2	0	12	282
CDK9	1025	broad.mit.edu	37	9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373264.4	+	7	1007	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|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)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617																																						ENST00000373264.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R303C(1)	endometrium(1)	1						c.(907-909)Cgc>Tgc		cyclin-dependent kinase 9							161.0	96.0	118.0					9																	130551610		2203	4300	6503	SO:0001583	missense	1025	0	0					g.chr9:130551610C>T	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.907C>T	chr9.hg19:g.130551610C>T	ENSP00000362361:p.Arg303Cys	0					CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	p.R303C	NM_001261.3	NP_001252.1	0	0	0	1.941936	P50750	CDK9_HUMAN		7	1007	+			Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	1	1	hg19	c.907C>T	CCDS6879.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127329	0.77549	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.74947	-0.89;-0.89	5.52	4.61	0.57282	5.52	4.61	0.57282	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	0.91226	0.7235	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92468	0.5983	10	0.87932	D	0	-8.2494	8.841	0.35142	0.1461:0.7767:0.0:0.0772	.	303	P50750	CDK9_HUMAN	C	420;303	ENSP00000362362:R420C;ENSP00000362361:R303C	ENSP00000362361:R303C	R	+	1	0	0	CDK9	129591431	129591431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.550000	0.45811	2.587000	0.87381	0.591000	0.81541	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000				86	84		266	261	1		1	1		0	0	75	0		1	1	0	54	0	210	0	86	266
FPGS	2356	broad.mit.edu	37	9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373247.2	+	15	1584	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.A462T|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	512					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CACCTGCAGTGCCAGCTCCCT	0.657																																						ENST00000373247.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1534-1536)Gcc>Acc		folylpolyglutamate synthase	Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)						71.0	68.0	69.0					9																	130575653		2203	4300	6503	SO:0001583	missense	2356	0	0					g.chr9:130575653G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1534G>A	chr9.hg19:g.130575653G>A	ENSP00000362344:p.Ala512Thr	0					FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.A462T	p.A512T	NM_004957.4	NP_004948.4	0	0	0	1.941936	Q05932	FOLC_HUMAN		15	1584	+			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	1	1	hg19	c.1534G>A	CCDS35148.1	1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756282	0.03019	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14266	2.95;2.93;2.52	5.03	-10.1	0.00402	5.03	-10.1	0.00402	Mur ligase, C-terminal (1);	0.753644	0.12795	N	0.438561	T	0.02571	0.0078	N	0.02158	-0.66	0.34854	D	0.741919	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34601	-0.9822	10	0.02654	T	1	-4.7795	7.9863	0.30213	0.1846:0.0:0.4419:0.3735	.	486;512	Q05932-4;Q05932	.;FOLC_HUMAN	T	512;486;462	ENSP00000362344:A512T;ENSP00000377309:A486T;ENSP00000362322:A462T	ENSP00000362322:A462T	A	+	1	0	0	FPGS	129615474	129615474	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-1.085000	0.03390	-1.977000	0.00994	-0.266000	0.10368	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000				106	104		436	425	1		1	1		0	0	107	0		1	1	0	110	0	172	0	106	436
FPGS	2356	broad.mit.edu	37	9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373247.2	+	15	1753	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.T518I|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	568					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTGCTAGTCACTGGCAGCCTG	0.647																																						ENST00000373247.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1702-1704)aCt>aTt		folylpolyglutamate synthase	Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)						48.0	46.0	47.0					9																	130575822		2203	4300	6503	SO:0001583	missense	2356	0	0					g.chr9:130575822C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1703C>T	chr9.hg19:g.130575822C>T	ENSP00000362344:p.Thr568Ile	0					FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.T518I	p.T568I	NM_004957.4	NP_004948.4	0	0	0	1.941936	Q05932	FOLC_HUMAN		15	1753	+			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	1	1	hg19	c.1703C>T	CCDS35148.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939028	0.92526	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.23147	2.22;2.21;1.92	5.33	5.33	0.75918	5.33	5.33	0.75918	Mur ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77101	-0.2712	10	0.87932	D	0	-15.9135	17.9954	0.89182	0.0:1.0:0.0:0.0	.	542;568	Q05932-4;Q05932	.;FOLC_HUMAN	I	568;542;518	ENSP00000362344:T568I;ENSP00000377309:T542I;ENSP00000362322:T518I	ENSP00000362322:T518I	T	+	2	0	0	FPGS	129615643	129615643	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.355000	0.79434	2.481000	0.83766	0.655000	0.94253	ACT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000				60	60		276	275	1		1	1		0	0	87	0		1	1	0	61	0	176	0	60	276
ENG	2022	broad.mit.edu	37	9	130581937	130581937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000373203.4	-	10	1675	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Silent_p.A425A|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_Intron	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	425	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000373203.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				17						c.(1273-1275)gcG>gcA		endoglin							36.0	36.0	36.0					9																	130581937		2201	4300	6501	SO:0001819	synonymous_variant	2022	0	0		Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	g.chr9:130581937C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1275G>A	chr9.hg19:g.130581937C>T		0					ENG_ENST00000480266.1_Intron|ENG_ENST00000344849.3_Silent_p.A425A|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA	p.A425A	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	0	0	0	1.941936	P17813	EGLN_HUMAN		10	1675	-			Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	1	1	hg19	c.1275G>A	CCDS48029.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1	0	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000				24	24		63	59	1		1	0		0	0	23	0		9.999999e-01	1	0	1	0	1162	0	24	63
ENG	2022	broad.mit.edu	37	9	130587516	130587516	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000373203.4	-	6	1210	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000344849.3_Silent_p.Q270Q|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	270	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000373203.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999908	0.990000	1.000000																										0				17						c.(808-810)caG>caA		endoglin							79.0	59.0	65.0					9																	130587516		2203	4300	6503	SO:0001819	synonymous_variant	2022	0	0		Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	g.chr9:130587516C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.810G>A	chr9.hg19:g.130587516C>T		0					ENG_ENST00000480266.1_5'UTR|ENG_ENST00000344849.3_Silent_p.Q270Q|RP11-228B15.4_ENST00000439298.1_RNA	p.Q270Q	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	0	0	0	1.941936	P17813	EGLN_HUMAN		6	1210	-			Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	1	1	hg19	c.810G>A	CCDS48029.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000				31	31		162	161	1		1	0		0	0	21	0		1	1	0	0	0	552	0	31	162
AK1	203	broad.mit.edu	37	9	130635041	130635041	+	Silent	SNP	G	G	A	rs202106101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	AK1_ENST00000373156.1_Silent_p.S45S|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.S61S	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16814	0.0		0.001	False		,,,				2504	0.0					ENST00000373176.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(133-135)tcC>tcT		adenylate kinase 1		G		0,4406		0,0,2203	69.0	60.0	63.0		135	-6.5	0.9	9		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK1	NM_000476.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		45/195	130635041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203	14	121412	42				g.chr9:130635041G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.135C>T	chr9.hg19:g.130635041G>A		0					RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S	p.S45S	NM_000476.2	NP_000467.1	0	0	0	1.941936				4	287	-				Silent	SNP	ENST00000373176.1	1	1	hg19	c.135C>T	CCDS6881.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1	1	0	1		16	2	2	0		0	1	52		52	52	1	2.060000	-3.483522	1	0.170000				46	46		201	192	1		1	1		0	0	52	0		9.999814e-01	1	0	85	0	336	0	46	201
ST6GALNAC6	30815	broad.mit.edu	37	9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T	rs200500949		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373146.1	-	5	580	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	134					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612																																						ENST00000373146.1	1.000000	0.620000	1	7.800000e-01	0.950000	0.911259	0.950000	1.000000																										0				14						c.(400-402)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							96.0	85.0	89.0					9																	130653219		2203	4300	6503	SO:0001583	missense	30815	1	121412	28				g.chr9:130653219C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.401G>A	chr9.hg19:g.130653219C>T	ENSP00000362239:p.Arg134His	0					ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H	p.R134H			0	0	0	1.941936	Q969X2	SIA7F_HUMAN		5	580	-			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	1	1	hg19	c.401G>A	CCDS6882.1	1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.455743	0.84209	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.71	4.81	0.61882	5.71	4.81	0.61882	.	0.049182	0.85682	D	0.000000	D	0.85557	0.5724	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89003	0.3423	10	0.87932	D	0	-20.5999	13.3597	0.60648	0.0:0.9233:0.0:0.0767	.	100;134	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	134;100;134;100;134;100	ENSP00000362239:R134H;ENSP00000362234:R100H;ENSP00000362235:R134H;ENSP00000362237:R100H;ENSP00000291839:R134H;ENSP00000405326:R100H	ENSP00000291839:R134H	R	-	2	0	0	ST6GALNAC6	129693040	129693040	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.371000	0.79600	1.424000	0.47217	0.651000	0.88453	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.142705	1	0.170000	NM_013443			22	21		239	234	0		1	1		0	0	54	0		9.999987e-01	9.999118e-01	0	14	0	152	0	22	239
ST6GALNAC6	30815	broad.mit.edu	37	9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373146.1	-	4	437	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	86					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592																																						ENST00000373146.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(256-258)tgG>tgA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							110.0	104.0	106.0					9																	130656830		2203	4300	6503	SO:0001587	stop_gained	30815	0	0					g.chr9:130656830C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.258G>A	chr9.hg19:g.130656830C>T	ENSP00000362239:p.Trp86*	0					ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*	p.W86*			0	0	0	1.941936	Q969X2	SIA7F_HUMAN		4	437	-			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	ENST00000373146.1	0	1	hg19	c.258G>A	CCDS6882.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412320|5.412320	0.96072|0.96072	.|.	.|.	ENSG00000160408|ENSG00000160408	ENST00000542456|ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T|.	0.47177|.	0.85|.	5.13|5.13	5.13|5.13	0.70059|0.70059	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.117745	.|0.64402	.|D	.|0.000007	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.34597|0.34597	D|D	0.716131|0.716131	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.43065|.	-0.9414|.	8|.	0.45353|0.07175	T|T	0.12|0.84	-12.0278|-12.0278	16.0654|16.0654	0.80867|0.80867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22|.	B4DU80|.	.|.	E|X	22|86;52;86;52;86;52	ENSP00000438109:G22E|.	ENSP00000438109:G22E|ENSP00000291839:W86X	G|W	-|-	2|3	0|0	0|0	ST6GALNAC6|ST6GALNAC6	129696651|129696651	129696651|129696651	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.833000|0.833000	0.47200|0.47200	4.981000|4.981000	0.63819|0.63819	2.390000|2.390000	0.81377|0.81377	0.650000|0.650000	0.86243|0.86243	GGA|TGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-3.225622	1	0.170000	NM_013443			97	95		504	490	0		1	1		0	0	127	0		1	1	0	11	0	256	0	97	504
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H|ST6GALNAC4_ENST00000495983.1_5'UTR	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	102					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)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677																																						ENST00000335791.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(304-306)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							44.0	40.0	41.0					9																	130674853		2203	4299	6502	SO:0001583	missense	27090	0	0					g.chr9:130674853C>T	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.305G>A	chr9.hg19:g.130674853C>T	ENSP00000336733:p.Arg102His	0					ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H|ST6GALNAC4_ENST00000495983.1_5'UTR	p.R102H	NM_175039.3	NP_778204.1	0	0	0	1.941936	Q9H4F1	SIA7D_HUMAN		4	580	-			Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	1	1	hg19	c.305G>A	CCDS6883.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	0	ST6GALNAC4	129714674	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-3.415196	1	0.170000	NM_175040			53	52		226	221	1		1	1		0	0	29	0		1	1	0	33	0	100	0	53	226
PIP5KL1	138429	broad.mit.edu	37	9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	263	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637																																						ENST00000388747.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				8						c.(787-789)cGc>cAc		phosphatidylinositol-4-phosphate 5-kinase-like 1							63.0	60.0	61.0					9																	130687515		2203	4300	6503	SO:0001583	missense	138429	1	121412	28				g.chr9:130687515C>T	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.788G>A	chr9.hg19:g.130687515C>T	ENSP00000373399:p.Arg263His	0					PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	p.R263H	NM_001135219.1	NP_001128691.1	0	0	0	1.941936	Q5T9C9	PI5L1_HUMAN		9	832	-			Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	1	1	hg19	c.788G>A	CCDS48030.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887242	0.52014	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.31769	1.48;1.48	4.95	2.1	0.27182	4.95	2.1	0.27182	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.190282	0.44688	N	0.000436	T	0.29061	0.0722	M	0.71036	2.16	0.40546	D	0.981077	B	0.18741	0.03	B	0.19946	0.027	T	0.08659	-1.0711	10	0.51188	T	0.08	-13.9532	5.5359	0.17011	0.1441:0.6667:0.0:0.1892	.	263	Q5T9C9	PI5L1_HUMAN	H	263;60	ENSP00000373399:R263H;ENSP00000300432:R60H	ENSP00000300432:R60H	R	-	2	0	0	PIP5KL1	129727336	129727336	0.708000	0.27876	0.998000	0.56505	0.982000	0.71751	0.489000	0.22387	0.224000	0.20940	0.491000	0.48974	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_173492			42	39		216	210	1		1	0		0	0	64	0		1	2.593984e-01	0	0	0	6	0	42	216
DPM2	8818	broad.mit.edu	37	9	130698902	130698902	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130698902C>T	ENST00000314392.8	-	3	789	c.126G>A	c.(124-126)aaG>aaA	p.K42K	RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	42					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						GCAGGAAATACTTGTGGATGA	0.587																																						ENST00000314392.8	0.430000	0.120000	3.400000e-01	1.700000e-01	0.250000	0.264369	0.250000	0.240000																										0				1						c.(124-126)aaG>aaA		dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit							194.0	141.0	159.0					9																	130698902		2203	4300	6503	SO:0001819	synonymous_variant	8818	0	0					g.chr9:130698902C>T	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.126G>A	chr9.hg19:g.130698902C>T		0					RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA	p.K42K	NM_003863.3	NP_003854.1	0	0	0	1.941936	O94777	DPM2_HUMAN		3	789	-			Q5XKK9|Q6FGH3	Silent	SNP	ENST00000314392.8	0	1	hg19	c.126G>A	CCDS6886.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	0	0	1		2	2	2	0		0	0	91		91	89	1	2.060000	-8.308978	1	0.170000	NM_003863			9	9		416	407	0		1	1		0	0	91	0		9.936777e-01	9.823121e-01	0	5	0	320	0	9	416
FAM102A	399665	broad.mit.edu	37	9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662																																						ENST00000373095.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999653	0.990000	1.000000																										0				10						c.(1036-1038)Gag>Aag		family with sequence similarity 102, member A							75.0	54.0	61.0					9																	130707059		2203	4300	6503	SO:0001583	missense	399665	0	0					g.chr9:130707059C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.1036G>A	chr9.hg19:g.130707059C>T	ENSP00000362187:p.Glu346Lys	0					FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K|FAM102A_ENST00000300434.3_5'UTR	p.E346K	NM_001035254.2	NP_001030331.1	0	0	0	1.941936	Q5T9C2	F102A_HUMAN		9	1411	-			A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	0	1	hg19	c.1036G>A	CCDS35150.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.054004	0.93793	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.097969	0.64402	D	0.000001	T	0.70859	0.3272	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72304	-0.4333	10	0.62326	D	0.03	.	18.7228	0.91702	0.0:1.0:0.0:0.0	.	346	Q5T9C2	F102A_HUMAN	K	346;204	ENSP00000362187:E346K;ENSP00000362176:E204K	ENSP00000362176:E204K	E	-	1	0	0	FAM102A	129746880	129746880	1.000000	0.71417	0.979000	0.43373	0.381000	0.30169	7.523000	0.81856	2.764000	0.94973	0.563000	0.77884	GAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-3.259233	1	0.170000				26	26		141	139	1		1	1		0	0	17	0		1	1	0	100	0	209	0	26	141
NAIF1	203245	broad.mit.edu	37	9	130828911	130828911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130828911G>A	ENST00000373078.4	-	1	689	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	157					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTGGCCGAGGGTCCGAGGGC	0.652																																						ENST00000373078.4	0.630000	0.210000	5.200000e-01	2.900000e-01	0.390000	0.409948	0.390000	0.380000																										0				16						c.(469-471)cCc>cTc		nuclear apoptosis inducing factor 1							35.0	35.0	35.0					9																	130828911		2202	4300	6502	SO:0001583	missense	203245	0	0					g.chr9:130828911G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.470C>T	chr9.hg19:g.130828911G>A	ENSP00000362170:p.Pro157Leu	0					NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	p.P157L	NM_197956.3	NP_931045.1	0	0	0	1.941936	Q69YI7	NAIF1_HUMAN		1	689	-			B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	0	1	hg19	c.470C>T	CCDS6889.1	0	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043163	0.36085	.	.	ENSG00000171169	ENST00000373078	.	.	.	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.416727	0.25566	N	0.029795	T	0.35508	0.0934	N	0.03608	-0.345	0.46131	D	0.998881	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	9	0.38643	T	0.18	-8.1042	16.4788	0.84152	0.0:0.0:1.0:0.0	.	157	Q69YI7	NAIF1_HUMAN	L	157	.	ENSP00000362170:P157L	P	-	2	0	0	NAIF1	129868732	129868732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.430000	0.90283	2.557000	0.86248	0.561000	0.74099	CCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	0	0	1		2	2	2	0		0	0	63		63	62	1	2.060000	-12.439510	1	0.170000	NM_197956			12	12		343	340	0		1	0		0	0	63	0		9.991084e-01	4.107268e-01	0	1	0	38	0	12	343
NAIF1	203245	broad.mit.edu	37	9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	35	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627																																						ENST00000373078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(103-105)tTc>tCc		nuclear apoptosis inducing factor 1							95.0	96.0	96.0					9																	130829277		2203	4300	6503	SO:0001583	missense	203245	0	0					g.chr9:130829277A>G	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.104T>C	chr9.hg19:g.130829277A>G	ENSP00000362170:p.Phe35Ser	0					NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	p.F35S	NM_197956.3	NP_931045.1	0	0	0	1.941936	Q69YI7	NAIF1_HUMAN		1	323	-			B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	1	1	hg19	c.104T>C	CCDS6889.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520958	0.85495	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.70385	-0.4886	9	0.22706	T	0.39	-9.5899	14.2657	0.66116	1.0:0.0:0.0:0.0	.	35	Q69YI7	NAIF1_HUMAN	S	35	.	ENSP00000362170:F35S	F	-	2	0	0	NAIF1	129869098	129869098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.622000	0.90953	1.972000	0.57404	0.460000	0.39030	TTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	1	0	0		2	2	2	0		0	0	164		164	164	1	2.060000	-20.000000	1	0.170000	NM_197956			151	147		841	825	1		1	1		0	0	164	0		1	8.499078e-01	0	2	0	19	0	151	841
SLC25A25	114789	broad.mit.edu	37	9	130865959	130865959	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373064.5	+	5	749		c.e5-1		SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607																																						ENST00000373064.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.e5-1		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							87.0	83.0	84.0					9																	130865959		2203	4300	6503	SO:0001630	splice_region_variant	114789	0	0					g.chr9:130865959G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.487-1G>A	chr9.hg19:g.130865959G>A		0					SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site		NM_052901.4	NP_443133.2	0	0	0	1.941936	Q6KCM7	SCMC2_HUMAN		5	749	+			Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Splice_Site	SNP	ENST00000373064.5	1	1	hg19		CCDS6890.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418790	0.83559	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SLC25A25	129905780	129905780	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	.	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_052901	Intron		56	55		281	271	1		1	0		0	0	69	0		1	0	0	0	0	1	0	56	281
CIZ1	25792	broad.mit.edu	37	9	130942771	130942771	+	Silent	SNP	G	G	A	rs371780195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000393608.1	-	7	916	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000538431.1_Silent_p.I238I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	238					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)			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						TTTCCTTGGCGATGTCCTCTG	0.547																																						ENST00000393608.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(712-714)atC>atT		CDKN1A interacting zinc finger protein 1		G	,,,,	0,4406		0,0,2203	256.0	215.0	229.0		714,714,699,642,714	0.3	0.0	9		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	238/843,238/899,233/838,214/819,238/899	130942771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25792	2	121412	38				g.chr9:130942771G>A	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.714C>T	chr9.hg19:g.130942771G>A		0					CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000538431.1_Silent_p.I238I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Silent_p.I238I	p.I238I	NM_012127.2	NP_036259.2	0	0	0	1.941936	Q9ULV3	CIZ1_HUMAN		7	916	-			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	1	1	hg19	c.714C>T	CCDS6894.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_012127			97	94		503	492	1		1	1		0	0	101	0		1	1	0	75	0	216	0	97	503
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000393608.1	-	5	657	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152					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)			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						AGTGGCCTGGGGAAAGAACTG	0.612																																						ENST00000393608.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(454-456)cCc>cAc		CDKN1A interacting zinc finger protein 1							58.0	58.0	58.0					9																	130947959		2203	4300	6503	SO:0001583	missense	25792	0	0					g.chr9:130947959G>T	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.455C>A	chr9.hg19:g.130947959G>T	ENSP00000377232:p.Pro152His	0					CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H	p.P152H	NM_012127.2	NP_036259.2	0	0	0	1.941936	Q9ULV3	CIZ1_HUMAN		5	657	-			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	1	1	hg19	c.455C>A	CCDS6894.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446937	0.84101	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	D	0.88119	0.6351	L	0.29908	0.895	0.38617	D	0.951046	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.998;1.0;0.999	D;P;D;D;D;P;D;P	0.91635	0.998;0.885;0.999;0.946;0.926;0.875;0.999;0.885	D	0.89937	0.4070	10	0.87932	D	0	-25.5097	15.8799	0.79195	0.0:0.0:1.0:0.0	.	152;152;152;152;128;152;128;152	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	128;152;152;152;128;119;51;152;128;152;152;79;152;152	ENSP00000362045:P128H;ENSP00000377232:P152H;ENSP00000439244:P152H;ENSP00000350169:P152H;ENSP00000320374:P128H;ENSP00000445057:P51H;ENSP00000277465:P152H;ENSP00000362039:P152H;ENSP00000362029:P152H;ENSP00000398011:P79H;ENSP00000321780:P152H;ENSP00000407265:P152H	ENSP00000277465:P152H	P	-	2	0	0	CIZ1	129987780	129987780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.775000	0.95449	0.655000	0.94253	CCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	1	0	1		2	2	2	0		0	0	61		61	59	1	2.060000	-3.359997	1	0.170000	NM_012127			47	45		234	227	1		1	1		0	0	61	0		1	1	0	37	0	137	0	47	234
DNM1	1759	broad.mit.edu	37	9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000372923.3	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000341179.7_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	352					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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602																																					GBM(113;146 1575 2722 28670 29921)	ENST00000372923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1054-1056)Gac>Aac		dynamin 1		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	92.0	89.0	90.0		1054,1054	6.0	1.0	9	dbSNP_134	90	0,8600		0,0,4300	no	missense,missense	DNM1	NM_001005336.1,NM_004408.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	352/852,352/865	130984801	1,13005	2203	4300	6503	SO:0001583	missense	1759	0	0					g.chr9:130984801G>A	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.1054G>A	chr9.hg19:g.130984801G>A	ENSP00000362014:p.Asp352Asn	0					DNM1_ENST00000341179.7_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	p.D352N	NM_004408.2	NP_004399.2	0	0	0	1.941936	Q05193	DYN1_HUMAN		8	1146	+			A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	1	1	hg19	c.1054G>A	CCDS6895.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028944	0.93518	2.27E-4	0.0	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.03	6.03	0.97812	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.954;0.996	P;B;P	0.57009	0.767;0.441;0.811	T	0.65784	-0.6084	10	0.21540	T	0.41	-6.6582	20.5596	0.99324	0.0:0.0:1.0:0.0	.	352;352;352	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	352;352;352;347;352;352	ENSP00000419225:D352N;ENSP00000345680:D352N;ENSP00000362014:D352N;ENSP00000377219:D352N;ENSP00000420045:D352N	ENSP00000345680:D352N	D	+	1	0	0	DNM1	130024622	130024622	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.320041	1	0.170000	NM_004408			72	71		407	402	1		1	1		0	0	99	0		1	9.967923e-01	0	5	0	46	0	72	407
DNM1	1759	broad.mit.edu	37	9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000372923.3	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000341179.7_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000372923.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1738-1740)aTg>aCg		dynamin 1							210.0	152.0	172.0					9																	131008740		2203	4300	6503	SO:0001583	missense	1759	0	0					g.chr9:131008740T>C	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.1739T>C	chr9.hg19:g.131008740T>C	ENSP00000362014:p.Met580Thr	0					DNM1_ENST00000341179.7_Missense_Mutation_p.M580T|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA	p.M580T	NM_004408.2	NP_004399.2	0	0	0	1.941936	Q05193	DYN1_HUMAN		16	1831	+			A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	1	1	hg19	c.1739T>C	CCDS6895.1	1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344371	0.61073	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.71	4.71	0.59529	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.732920	0.02792	N	0.122157	D	0.84790	0.5550	M	0.89214	3.015	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.35073	0.195;0.123	T	0.67397	-0.5681	10	0.49607	T	0.09	-9.659	14.3359	0.66589	0.0:0.0:0.0:1.0	.	580;580	Q05193;Q05193-3	DYN1_HUMAN;.	T	580;580;580;575;580;580;125	ENSP00000419225:M580T;ENSP00000345680:M580T;ENSP00000362014:M580T;ENSP00000377219:M580T;ENSP00000420045:M580T	ENSP00000345680:M580T	M	+	2	0	0	DNM1	130048561	130048561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	1.972000	0.57404	0.408000	0.27601	ATG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_004408			68	67		267	264	1		1	1		0	0	60	0		1	9.995790e-01	0	12	0	36	0	68	267
GOLGA2	2801	broad.mit.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682																																						ENST00000421699.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.D477N(1)	ovary(1)	34						c.(1465-1467)Gac>Tac		golgin A2							39.0	44.0	42.0					9																	131022956		2203	4300	6503	SO:0001583	missense	2801	0	0					g.chr9:131022956C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1465G>T	chr9.hg19:g.131022956C>A	ENSP00000416097:p.Asp489Tyr	0					AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	p.D489Y	NM_004486.4	NP_004477.3	0	0	0	1.941936	Q08379	GOGA2_HUMAN		17	1477	-			Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	1	1	hg19	c.1465G>T	CCDS6896.2	1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225784	0.79576	.	.	ENSG00000167110	ENST00000421699	T	0.32272	1.46	5.3	4.41	0.53225	5.3	4.41	0.53225	.	0.097640	0.64402	D	0.000002	T	0.52677	0.1749	M	0.66506	2.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.56469	-0.7974	10	0.72032	D	0.01	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	Y	489	ENSP00000416097:D489Y	ENSP00000416097:D489Y	D	-	1	0	0	GOLGA2	130062777	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	1	0	1		2	2	2	0		0	0	80		80	76	1	2.060000	-20.000000	1	0.170000	NM_004486			113	112		434	420	1		1	1		0	0	80	0		1	1	0	43	0	149	0	113	434
TRUB2	26995	broad.mit.edu	37	9	131083973	131083973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131083973C>T	ENST00000372890.4	-	2	479	c.146G>A	c.(145-147)cGt>cAt	p.R49H	COQ4_ENST00000609948.1_5'Flank|COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000372875.3_5'Flank|TRUB2_ENST00000546104.1_De_novo_Start_OutOfFrame|COQ4_ENST00000608951.1_5'Flank|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	49					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCGAACACGCTGTTTAGG	0.463																																						ENST00000372890.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(145-147)cGt>cAt		TruB pseudouridine (psi) synthase family member 2							104.0	85.0	91.0					9																	131083973		2203	4300	6503	SO:0001583	missense	26995	0	0					g.chr9:131083973C>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.146G>A	chr9.hg19:g.131083973C>T	ENSP00000361982:p.Arg49His	0					COQ4_ENST00000608951.1_5'Flank|COQ4_ENST00000609948.1_5'Flank|TRUB2_ENST00000546104.1_De_novo_Start_OutOfFrame|COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000372875.3_5'Flank|TRUB2_ENST00000460320.1_5'UTR	p.R49H	NM_015679.1	NP_056494.1	0	0	0	1.941936	O95900	TRUB2_HUMAN		2	479	-			B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	1	0	hg19	c.146G>A	CCDS6897.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837199	0.50951	.	.	ENSG00000167112	ENST00000372890	T	0.18657	2.2	5.83	2.61	0.31194	5.83	2.61	0.31194	Pseudouridine synthase, catalytic domain (1);	0.382772	0.30999	N	0.008460	T	0.10937	0.0267	N	0.21282	0.65	0.80722	D	1	B	0.23490	0.086	B	0.12156	0.007	T	0.15578	-1.0432	10	0.23302	T	0.38	-7.2384	5.728	0.18024	0.0:0.5941:0.0:0.4059	.	49	O95900	TRUB2_HUMAN	H	49	ENSP00000361982:R49H	ENSP00000361982:R49H	R	-	2	0	0	TRUB2	130123794	130123794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.476000	0.35420	0.798000	0.33994	0.563000	0.77884	CGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_015679			52	50		214	209	0		1	1		0	0	77	0		1	1	0	43	0	90	0	52	214
SLC27A4	10999	broad.mit.edu	37	9	131107479	131107479	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	69					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999522	0.990000	1.000000																										0				13						c.(205-207)tgC>tgT		solute carrier family 27 (fatty acid transporter), member 4							76.0	49.0	58.0					9																	131107479		2203	4300	6503	SO:0001819	synonymous_variant	10999	0	0					g.chr9:131107479C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.207C>T	chr9.hg19:g.131107479C>T		0					SLC27A4_ENST00000372870.1_Intron	p.C69C	NM_005094.3	NP_005085.2	0	0	0	1.941936	Q6P1M0	S27A4_HUMAN		3	324	+			A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	1	1	hg19	c.207C>T	CCDS6899.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000				33	32		208	204	0		1	1		0	0	50	0		1	9.994117e-01	0	17	0	58	0	33	208
SLC27A4	10999	broad.mit.edu	37	9	131107824	131107824	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	184					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998312	0.990000	1.000000																										0				13						c.(550-552)gcC>gcA		solute carrier family 27 (fatty acid transporter), member 4							13.0	16.0	15.0					9																	131107824		2197	4282	6479	SO:0001819	synonymous_variant	10999	0	0					g.chr9:131107824C>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.552C>A	chr9.hg19:g.131107824C>A		0					SLC27A4_ENST00000372870.1_Intron	p.A184A	NM_005094.3	NP_005085.2	0	0	0	1.941936	Q6P1M0	S27A4_HUMAN		3	669	+			A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	1	1	hg19	c.552C>A	CCDS6899.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000				15	15		70	68	1		1	1		0	0	15	0		9.999075e-01	9.999778e-01	0	26	0	74	0	15	70
SLC27A4	10999	broad.mit.edu	37	9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	193					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(577-579)aGc>aAc		solute carrier family 27 (fatty acid transporter), member 4							65.0	69.0	68.0					9																	131110845		2203	4300	6503	SO:0001583	missense	10999	0	0					g.chr9:131110845G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.578G>A	chr9.hg19:g.131110845G>A	ENSP00000300456:p.Ser193Asn	0					SLC27A4_ENST00000372870.1_Intron	p.S193N	NM_005094.3	NP_005085.2	0	0	0	1.941936	Q6P1M0	S27A4_HUMAN		4	695	+			A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	1	1	hg19	c.578G>A	CCDS6899.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045492	0.36085	.	.	ENSG00000167114	ENST00000300456	T	0.42131	0.98	5.54	-0.0676	0.13759	5.54	-0.0676	0.13759	AMP-dependent synthetase/ligase (1);	0.545020	0.21401	N	0.075159	T	0.26666	0.0652	L	0.47190	1.495	0.41841	D	0.990121	B	0.06786	0.001	B	0.10450	0.005	T	0.07673	-1.0760	10	0.27785	T	0.31	-22.4619	1.3239	0.02121	0.306:0.223:0.3486:0.1224	.	193	Q6P1M0	S27A4_HUMAN	N	193	ENSP00000300456:S193N	ENSP00000300456:S193N	S	+	2	0	0	SLC27A4	130150666	130150666	0.476000	0.25901	0.556000	0.28293	0.974000	0.67602	0.320000	0.19540	-0.005000	0.14395	-0.367000	0.07326	AGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-3.428585	1	0.170000				86	86		359	354	1		1	1		0	0	93	0		1	9.999998e-01	0	38	0	57	0	86	359
CERCAM	51148	broad.mit.edu	37	9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372838.4	+	12	2038	c.1640G>A	c.(1639-1641)aGt>aAt	p.S547N	CERCAM_ENST00000372842.1_Missense_Mutation_p.S469N	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	547					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662																																						ENST00000372838.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999815	0.990000	1.000000																										0				20						c.(1639-1641)aGt>aAt		cerebral endothelial cell adhesion molecule							31.0	27.0	29.0					9																	131198036		2203	4300	6503	SO:0001583	missense	51148	0	0					g.chr9:131198036G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1640G>A	chr9.hg19:g.131198036G>A	ENSP00000361929:p.Ser547Asn	0					CERCAM_ENST00000372842.1_Missense_Mutation_p.S469N	p.S547N	NM_016174.4	NP_057258.3	0	0	0	1.941936	Q5T4B2	GT253_HUMAN		12	2038	+			A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	1	1	hg19	c.1640G>A	CCDS6901.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.337214	0.95758	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.85013	-1.85;-1.93	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94160	0.7413	10	0.87932	D	0	-6.5656	16.9993	0.86377	0.0:0.0:1.0:0.0	.	547	Q5T4B2	GT253_HUMAN	N	469;547;500	ENSP00000361933:S469N;ENSP00000361929:S547N	ENSP00000361929:S547N	S	+	2	0	0	CERCAM	130237857	130237857	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.664000	0.98607	2.340000	0.79590	0.561000	0.74099	AGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	1	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_016174			25	24		122	120	1		1	1		0	0	37	0		9.999999e-01	1	0	18	0	400	0	25	122
MPDZ	8777	broad.mit.edu	37	9	13125244	13125244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000319217.7	-	35	5025	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1593					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)			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)		TGGGGAGCCAGACTGTGGGAC	0.537																																						ENST00000319217.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(4777-4779)tCt>tAt		multiple PDZ domain protein							115.0	113.0	114.0					9																	13125244		1902	4118	6020	SO:0001583	missense	8777	0	0					g.chr9:13125244G>T	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.4778C>A	chr9.hg19:g.13125244G>T	ENSP00000320006:p.Ser1593Tyr	0					MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y	p.S1593Y	NM_001261406.1	NP_001248335.1	0	0	0	1.928190	O75970	MPDZ_HUMAN		35	5025	-			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	1	0	hg19	c.4778C>A		1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268140	0.59540	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.17213	2.7;2.67;2.67;2.29;2.6;2.63;2.68;2.72;2.7;2.71	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.369947	0.19770	N	0.106464	T	0.28300	0.0699	L	0.38175	1.15	0.80722	D	1	P;B;B;P;D;P;B	0.61697	0.828;0.008;0.356;0.892;0.99;0.892;0.228	P;B;B;P;P;P;B	0.56700	0.521;0.023;0.187;0.714;0.804;0.714;0.181	T	0.00964	-1.1498	10	0.42905	T	0.14	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	1560;452;298;1560;1473;1593;1593	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	Y	1593;1593;1593;162;529;452;1560;1560;1593;1473;1607	ENSP00000320006:S1593Y;ENSP00000439807:S1593Y;ENSP00000370410:S1593Y;ENSP00000415964:S162Y;ENSP00000444230:S529Y;ENSP00000444717:S452Y;ENSP00000444151:S1560Y;ENSP00000415208:S1560Y;ENSP00000370403:S1593Y;ENSP00000446358:S1607Y	ENSP00000320006:S1593Y	S	-	2	0	0	MPDZ	13115244	13115244	0.391000	0.25221	0.007000	0.13788	0.398000	0.30690	4.342000	0.59341	2.564000	0.86499	0.650000	0.86243	TCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	1	0	1		2	2	2	0		0	0	99		99	95	1	2.060000	-20.000000	1	0.170000	NM_003829			74	72		368	359	1		1	1		0	0	99	0		1	9.928681e-01	0	2	0	38	0	74	368
ODF2	4957	broad.mit.edu	37	9	131243904	131243904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000351030.3_Silent_p.L292L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	297					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)			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						GCTGAAACGGCTGGCGGAGGC	0.483																																						ENST00000434106.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998269	0.990000	1.000000																										0				37						c.(889-891)Ctg>Ttg		outer dense fiber of sperm tails 2							94.0	89.0	91.0					9																	131243904		2203	4300	6503	SO:0001819	synonymous_variant	4957	0	0					g.chr9:131243904C>T	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.889C>T	chr9.hg19:g.131243904C>T		0					ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000372814.3_Silent_p.L341L	p.L297L	NM_153433.1	NP_702911.1	0	0	0	1.941936	Q5BJF6	ODFP2_HUMAN		9	1252	+			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	1	1	hg19	c.889C>T	CCDS56588.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	1	0	1		2	2	2	0		0	0	65		65	55	1	2.060000	-20.000000	1	0.170000				31	31		215	195	1		1	1		0	0	65	0		1	9.981323e-01	0	25	0	45	0	31	215
ODF2	4957	broad.mit.edu	37	9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	541					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)			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						AACTATGAGGGGATGATTGAC	0.587																																						ENST00000434106.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				37						c.(1621-1623)gGg>gAg		outer dense fiber of sperm tails 2							82.0	81.0	81.0					9																	131254790		2203	4300	6503	SO:0001583	missense	4957	0	0					g.chr9:131254790G>A	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.1622G>A	chr9.hg19:g.131254790G>A	ENSP00000403453:p.Gly541Glu	0					ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E	p.G541E	NM_153433.1	NP_702911.1	0	0	0	1.941936	Q5BJF6	ODFP2_HUMAN		15	1985	+			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	1	1	hg19	c.1622G>A	CCDS56588.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274820	0.59649	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.80653	1.07;-1.4;1.07;1.07;1.98;-1.4;1.07;1.07	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.088091	0.85682	D	0.000000	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.016;0.222;0.028;0.139;0.222;0.035;0.028	B;B;B;B;B;B;B;B	0.20955	0.031;0.015;0.031;0.015;0.031;0.031;0.032;0.015	T	0.64037	-0.6501	10	0.18710	T	0.47	-33.0468	13.0706	0.59059	0.0756:0.0:0.9244:0.0	.	522;536;460;475;541;522;541;517	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	E	541;585;536;541;517;460;522;522	ENSP00000377166:G541E;ENSP00000361901:G585E;ENSP00000342581:G536E;ENSP00000361882:G541E;ENSP00000307781:G517E;ENSP00000396687:G460E;ENSP00000437579:G522E;ENSP00000361877:G522E	ENSP00000307781:G517E	G	+	2	0	0	ODF2	130294611	130294611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.884000	0.98904	0.655000	0.94253	GGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.265453	1	0.170000				36	34		184	180	1		1	1		0	0	60	0		1	9.999209e-01	0	14	0	63	0	36	184
ODF2	4957	broad.mit.edu	37	9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	828					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)			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						CGATCTCCTCCTGCCTGAGGC	0.552																																						ENST00000434106.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				37						c.(2482-2484)cCt>cAt		outer dense fiber of sperm tails 2							134.0	116.0	122.0					9																	131262527		2203	4300	6503	SO:0001583	missense	4957	0	0					g.chr9:131262527C>A	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.2483C>A	chr9.hg19:g.131262527C>A	ENSP00000403453:p.Pro828His	0					ODF2_ENST00000351030.3_Missense_Mutation_p.P823H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H	p.P828H	NM_153433.1	NP_702911.1	0	0	0	1.941936	Q5BJF6	ODFP2_HUMAN		21	2846	+			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	1	1	hg19	c.2483C>A	CCDS56588.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863291	0.91511	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.32515	1.58;1.45;1.57	5.5	4.6	0.57074	5.5	4.6	0.57074	.	0.484236	0.19596	N	0.110515	T	0.31734	0.0806	N	0.14661	0.345	0.80722	D	1	P;D;P;B	0.69078	0.743;0.997;0.743;0.444	B;P;B;B	0.57548	0.432;0.823;0.432;0.432	T	0.16217	-1.0410	10	0.87932	D	0	-10.0449	11.2733	0.49153	0.0:0.9148:0.0:0.0852	.	823;173;828;804	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	823;828;804	ENSP00000342581:P823H;ENSP00000361882:P828H;ENSP00000307781:P804H	ENSP00000307781:P804H	P	+	2	0	0	ODF2	130302348	130302348	0.941000	0.31946	0.490000	0.27465	0.702000	0.40608	1.728000	0.38105	1.314000	0.45095	0.561000	0.74099	CCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	0	0	0		2	2	2	0		0	0	132		132	130	1	2.060000	-3.221889	1	0.170000				82	79		528	513	1		1	1		0	0	132	0		1	9.991067e-01	0	14	0	54	0	82	528
GLE1	2733	broad.mit.edu	37	9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	117					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398																																						ENST00000309971.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999622	0.990000	1.000000																										0				16						c.(349-351)tCt>tAt		GLE1 RNA export mediator							64.0	55.0	58.0					9																	131277836		2203	4300	6503	SO:0001583	missense	2733	0	0					g.chr9:131277836C>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.350C>A	chr9.hg19:g.131277836C>A	ENSP00000308622:p.Ser117Tyr	0					GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	p.S117Y	NM_001003722.1	NP_001003722.1	0	0	0	1.941936	Q53GS7	GLE1_HUMAN		3	456	+			O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	1	1	hg19	c.350C>A	CCDS35154.1	1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482319	0.44147	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66280	-0.2;0.21	5.29	3.03	0.35002	5.29	3.03	0.35002	.	0.591936	0.18162	N	0.149753	T	0.39759	0.1090	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.24882	0.028;0.113	B;B	0.23574	0.021;0.047	T	0.18398	-1.0338	10	0.34782	T	0.22	-0.0107	6.0264	0.19658	0.0:0.6634:0.1937:0.1429	.	117;117	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	Y	117	ENSP00000308622:S117Y;ENSP00000361856:S117Y	ENSP00000308622:S117Y	S	+	2	0	0	GLE1	130317657	130317657	0.000000	0.05858	0.002000	0.10522	0.735000	0.41995	0.530000	0.23036	1.198000	0.43158	0.462000	0.41574	TCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_001003722			24	24		125	121	1		1	1		0	0	44	0		9.999998e-01	9.999763e-01	0	17	0	78	0	24	125
GLE1	2733	broad.mit.edu	37	9	131298700	131298700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	GLE1_ENST00000539582.1_Silent_p.S317S|GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	571					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AACGCATGTCAGGGATGATCC	0.468																																						ENST00000309971.4	0.690000	0.210000	5.500000e-01	3.000000e-01	0.410000	0.434160	0.410000	0.390000																										0				16						c.(1711-1713)tcA>tcG		GLE1 RNA export mediator							127.0	103.0	111.0					9																	131298700		2203	4300	6503	SO:0001819	synonymous_variant	2733	0	0					g.chr9:131298700A>G	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1713A>G	chr9.hg19:g.131298700A>G		0					GLE1_ENST00000539582.1_Silent_p.S317S|GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA	p.S571S	NM_001003722.1	NP_001003722.1	0	0	0	1.941936	Q53GS7	GLE1_HUMAN		12	1819	+			O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	1	1	hg19	c.1713A>G	CCDS35154.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-3.854573	1	0.170000	NM_001003722			10	10		272	256	0		1	1		0	0	46	0		9.960054e-01	8.483904e-01	0	2	0	92	0	10	272
SPTAN1	6709	broad.mit.edu	37	9	131329137	131329137	+	Silent	SNP	C	C	T	rs374578900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000372731.4	+	2	228	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000358161.5_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	40					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGTCAGAAGCTGGAAGATTC	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372731.4	0.390000	0.110000	3.100000e-01	1.600000e-01	0.220000	0.242617	0.220000	0.220000																										0				87						c.(118-120)Ctg>Ttg		spectrin, alpha, non-erythrocytic 1		C	,,	0,4406		0,0,2203	99.0	99.0	99.0		118,118,118	1.6	1.0	9		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	40/2478,40/2453,40/2473	131329137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6709	0	0					g.chr9:131329137C>T	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.118C>T	chr9.hg19:g.131329137C>T		0					SPTAN1_ENST00000358161.5_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L	p.L40L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	0	0	0	1.941936	Q13813	SPTN1_HUMAN		2	228	+			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	0	1	hg19	c.118C>T	CCDS6905.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	0	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.187739	1	0.170000	NM_003127			10	10		501	493	0		1	1		0	0	93	0		9.966801e-01	8.320662e-01	0	4	0	161	0	10	501
SPTAN1	6709	broad.mit.edu	37	9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372731.4	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1202					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372731.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(3604-3606)Gtg>Atg		spectrin, alpha, non-erythrocytic 1							295.0	258.0	271.0					9																	131365846		2203	4300	6503	SO:0001583	missense	6709	0	0					g.chr9:131365846G>A	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.3604G>A	chr9.hg19:g.131365846G>A	ENSP00000361816:p.Val1202Met	0					SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M	p.V1202M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	0	0	0	1.941936	Q13813	SPTN1_HUMAN		28	3714	+			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	1	1	hg19	c.3604G>A	CCDS6905.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680519	0.68042	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.65	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.113273	0.64402	D	0.000009	T	0.36690	0.0976	N	0.08118	0	0.51767	D	0.999939	P;P;P;P	0.49696	0.898;0.927;0.927;0.88	B;P;P;B	0.44359	0.143;0.447;0.447;0.26	T	0.38802	-0.9644	10	0.52906	T	0.07	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1202;1182;1202;1202	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	M	1202;1202;1202;1182	ENSP00000350882:V1202M;ENSP00000361816:V1202M;ENSP00000361824:V1202M	ENSP00000350882:V1202M	V	+	1	0	0	SPTAN1	130405667	130405667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.790000	0.75115	2.758000	0.94735	0.563000	0.77884	GTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	1	0	1		2	2	2	0		0	0	169		169	168	1	2.060000	-20.000000	1	0.170000	NM_003127			126	121		611	591	1		1	1		0	0	169	0		1	1	0	70	0	244	0	126	611
SPTAN1	6709	broad.mit.edu	37	9	131369983	131369983	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372731.4	+	32	4256		c.e32+1		SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372731.4	0.640000	0.290000	5.500000e-01	3.700000e-01	0.450000	0.466082	0.450000	0.450000																										0				87						c.e32+1		spectrin, alpha, non-erythrocytic 1							117.0	110.0	112.0					9																	131369983		2203	4300	6503	SO:0001630	splice_region_variant	6709	0	0					g.chr9:131369983G>A	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.4146+1G>A	chr9.hg19:g.131369983G>A		0					SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site		NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	0	0	0	1.941936	Q13813	SPTN1_HUMAN		32	4256	+			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	0	1	hg19		CCDS6905.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382121	0.82792	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.46	5.46	0.80206	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SPTAN1	130409804	130409804	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.186000	0.94906	2.732000	0.93576	0.655000	0.94253	.	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-19.995740	1	0.170000	NM_003127	Intron		24	22		582	574	0		1	0		0	0	113	0		9.999996e-01	1.755466e-03	0	0	0	2	0	24	582
WDR34	89891	broad.mit.edu	37	9	131396214	131396214	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131396214C>A	ENST00000372715.2	-	9	1480	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	474						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTGATCAAAACTGTGGGTTTC	0.517																																						ENST00000372715.2	0.500000	0.150000	4.000000e-01	2.100000e-01	0.290000	0.311680	0.290000	0.280000																										0				9						c.(1420-1422)Gtt>Ttt		WD repeat domain 34							48.0	49.0	49.0					9																	131396214		2195	4283	6478	SO:0001583	missense	89891	0	0					g.chr9:131396214C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1420G>T	chr9.hg19:g.131396214C>A	ENSP00000361800:p.Val474Phe	0					WDR34_ENST00000483181.1_5'Flank	p.V474F	NM_052844.3	NP_443076.2	0	0	0	1.941936	Q96EX3	WDR34_HUMAN		9	1480	-			Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	0	1	hg19	c.1420G>T	CCDS6906.2	0	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725911	0.48833	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.42	2.62	0.31277	5.42	2.62	0.31277	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.240373	0.42053	D	0.000761	T	0.39860	0.1094	M	0.72479	2.2	0.09310	N	1	B	0.34313	0.448	P	0.46389	0.515	T	0.36672	-0.9738	10	0.62326	D	0.03	-6.2037	5.8772	0.18836	0.0:0.638:0.1376:0.2244	.	474	Q96EX3	WDR34_HUMAN	F	474	ENSP00000361800:V474F	ENSP00000361800:V474F	V	-	1	0	0	WDR34	130436035	130436035	0.926000	0.31397	0.002000	0.10522	0.810000	0.45777	2.322000	0.43814	0.284000	0.22305	-0.291000	0.09656	GTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	0	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-9.845781	1	0.170000	NM_052844			10	10		386	380	0		1	1		0	0	71	0		9.967224e-01	9.999063e-01	0	13	0	697	0	10	386
WDR34	89891	broad.mit.edu	37	9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	370						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652																																						ENST00000372715.2	1.000000	0.320000	9.800000e-01	4.900000e-01	0.700000	0.717906	0.700000	1.000000																										0				9						c.(1108-1110)Gcc>Acc		WD repeat domain 34							23.0	28.0	27.0					9																	131397074		2202	4299	6501	SO:0001583	missense	89891	0	0					g.chr9:131397074C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1108G>A	chr9.hg19:g.131397074C>T	ENSP00000361800:p.Ala370Thr	0					WDR34_ENST00000483181.1_5'UTR	p.A370T	NM_052844.3	NP_443076.2	0	0	0	1.941936	Q96EX3	WDR34_HUMAN		7	1168	-			Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	0	1	hg19	c.1108G>A	CCDS6906.2	0	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059582	0.36373	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.24	5.24	0.73138	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051625	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74258	2.255	0.58432	D	0.999999	B	0.28998	0.23	B	0.24394	0.053	T	0.27365	-1.0076	10	0.49607	T	0.09	-3.501	17.8239	0.88658	0.0:1.0:0.0:0.0	.	370	Q96EX3	WDR34_HUMAN	T	370	ENSP00000361800:A370T	ENSP00000361800:A370T	A	-	1	0	0	WDR34	130436895	130436895	1.000000	0.71417	0.417000	0.26559	0.179000	0.23085	5.565000	0.67365	2.448000	0.82819	0.561000	0.74099	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-11.470420	1	0.170000	NM_052844			7	7		108	106	1		1	1		0	0	22	0		9.804896e-01	9.999439e-01	0	96	0	281	0	7	108
WDR34	89891	broad.mit.edu	37	9	131397201	131397201	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34							axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372715.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				9						c.e7-1		WD repeat domain 34							20.0	24.0	22.0					9																	131397201		2203	4299	6502	SO:0001630	splice_region_variant	89891	0	0					g.chr9:131397201C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.982-1G>T	chr9.hg19:g.131397201C>A		0		OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_Splice_Site		NM_052844.3	NP_443076.2	0	0	0	1.941936	Q96EX3	WDR34_HUMAN		7	1042	-			Q5VXV4|Q9BV46	Splice_Site	SNP	ENST00000372715.2	1	1	hg19		CCDS6906.2	1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520168	0.27211	.	.	ENSG00000119333	ENST00000372715	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	WDR34	130437022	130437022	1.000000	0.71417	0.969000	0.41365	0.017000	0.09413	4.909000	0.63314	2.448000	0.82819	0.561000	0.74099	.	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_052844	Intron		32	31		132	128	1		1	1		0	0	23	0		1	9.999997e-01	0	106	0	1	0	32	132
SET	6418	broad.mit.edu	37	9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000372692.4	+	4	650	c.409A>C	c.(409-411)Ata>Cta	p.I137L	SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000322030.8_Missense_Mutation_p.I124L	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	137	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363			T	NUP214	AML																																	ENST00000372692.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999646	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	6418	T	SET translocation				L	L	NUP214		AML		0				5						c.(409-411)Ata>Cta		SET nuclear proto-oncogene							76.0	78.0	77.0					9																	131455036		2203	4300	6503	SO:0001583	missense	6418	0	0					g.chr9:131455036A>C	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.409A>C	chr9.hg19:g.131455036A>C	ENSP00000361777:p.Ile137Leu	0					SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000322030.8_Missense_Mutation_p.I124L	p.I137L	NM_001122821.1	NP_001116293.1	0	0	0	1.941936	Q01105	SET_HUMAN		4	650	+		Myeloproliferative disorder(178;0.204)	A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	ENST00000372692.4	1	1	hg19	c.409A>C	CCDS48037.1	1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935384	0.92458	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.39514	1.22	0.80722	D	1	B;P;P	0.44195	0.391;0.478;0.828	B;B;P	0.48524	0.432;0.273;0.58	T	0.01068	-1.1462	10	0.87932	D	0	.	14.3996	0.67034	1.0:0.0:0.0:0.0	.	113;124;137	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	L	137;115;124;113;112	ENSP00000361777:I137L;ENSP00000387321:I115L;ENSP00000318012:I124L;ENSP00000361773:I113L;ENSP00000361771:I112L	ENSP00000318012:I124L	I	+	1	0	0	SET	130494857	130494857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	1.995000	0.58328	0.454000	0.30748	ATA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	1	0	1		2	2	2	0		0	0	52		52	53	1	2.060000	-20.000000	1	0.170000	NM_001122821			31	31		185	177	1		1	1		0	0	52	0		1	1	0	169	0	565	0	31	185
PKN3	29941	broad.mit.edu	37	9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T	rs560359660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	41					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15748	0.0		0.0	False		,,,				2504	0.001					ENST00000291906.4	1.000000	0.920000	1	9.900000e-01	0.990000	0.995097	0.990000	1.000000																										0				24						c.(121-123)Cgg>Tgg		protein kinase N3							11.0	10.0	11.0					9																	131467678		2165	4248	6413	SO:0001583	missense	29941	7	119538	32				g.chr9:131467678C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.121C>T	chr9.hg19:g.131467678C>T	ENSP00000291906:p.Arg41Trp	0						p.R41W	NM_013355.3	NP_037487.2	0	0	0	1.941936	Q6P5Z2	PKN3_HUMAN		2	514	+			Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	1	1	hg19	c.121C>T	CCDS6908.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116549	0.77323	.	.	ENSG00000160447	ENST00000291906	T	0.19806	2.12	5.18	3.27	0.37495	5.18	3.27	0.37495	.	.	.	.	.	T	0.44180	0.1281	M	0.76170	2.325	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.42599	-0.9442	9	0.87932	D	0	.	13.0802	0.59109	0.293:0.707:0.0:0.0	.	41;41	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	W	41	ENSP00000291906:R41W	ENSP00000291906:R41W	R	+	1	2	2	PKN3	130507499	130507499	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	1.467000	0.35321	0.531000	0.28639	0.655000	0.94253	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-19.988630	1	0.170000	NM_013355			12	11		60	59	1		1	1		0	0	14	0		9.992789e-01	5.340104e-01	0	2	0	8	0	12	60
PKN3	29941	broad.mit.edu	37	9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	827	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667																																						ENST00000291906.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(2479-2481)Ctc>Atc		protein kinase N3							107.0	108.0	108.0					9																	131482694		2203	4300	6503	SO:0001583	missense	29941	0	0					g.chr9:131482694C>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2479C>A	chr9.hg19:g.131482694C>A	ENSP00000291906:p.Leu827Ile	0					ZDHHC12_ENST00000467312.1_5'Flank	p.L827I	NM_013355.3	NP_037487.2	0	0	0	1.941936	Q6P5Z2	PKN3_HUMAN		22	2872	+			Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	1	1	hg19	c.2479C>A	CCDS6908.1	1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154543	0.57259	.	.	ENSG00000160447	ENST00000291906	T	0.25912	1.77	4.97	4.97	0.65823	4.97	4.97	0.65823	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43010	0.1228	L	0.60067	1.865	0.42656	D	0.993462	D	0.69078	0.997	D	0.72625	0.978	T	0.29427	-1.0012	9	0.49607	T	0.09	.	9.3747	0.38275	0.0:0.9017:0.0:0.0983	.	827	Q6P5Z2	PKN3_HUMAN	I	827	ENSP00000291906:L827I	ENSP00000291906:L827I	L	+	1	0	0	PKN3	130522515	130522515	0.997000	0.39634	0.994000	0.49952	0.591000	0.36615	1.211000	0.32382	2.297000	0.77311	0.462000	0.41574	CTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	0	0	1		20	6	2	1		1	1	168		168	166	1	2.060000	-20.000000	1	0.170000	NM_013355			148	143		834	819	1		1	1		1	0	168	0		1	9.999998e-01	0	82	0	100	0	148	834
ZER1	10444	broad.mit.edu	37	9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	716					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.K716K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000291900.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										1	Substitution - coding silent(1)	p.K716K(1)	kidney(1)	15						c.(2146-2148)aaG>aaT		zyg-11 related, cell cycle regulator							58.0	48.0	52.0					9																	131495800		2203	4300	6503	SO:0001583	missense	10444	0	0					g.chr9:131495800C>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2148G>T	chr9.hg19:g.131495800C>A	ENSP00000291900:p.Lys716Asn	0		OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588	RP11-545E17.3_ENST00000443631.1_RNA	p.K716N	NM_006336.2	NP_006327.2	0	0	0	1.941936	Q7Z7L7	ZER1_HUMAN		15	2554	-			O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	1	1	hg19	c.2148G>T	CCDS6910.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954837	0.73902	.	.	ENSG00000160445	ENST00000291900	T	0.65549	-0.16	5.77	2.84	0.33178	5.77	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72609	-0.4241	10	0.54805	T	0.06	-44.6261	7.6963	0.28596	0.0:0.6569:0.0:0.3431	.	716	Q7Z7L7	ZER1_HUMAN	N	716	ENSP00000291900:K716N	ENSP00000291900:K716N	K	-	3	2	2	ZER1	130535621	130535621	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	0.395000	0.25257	0.655000	0.94253	AAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_006336			22	20		82	81	1		1	1		0	0	23	0		9.999993e-01	1	0	33	0	100	0	22	82
C9orf114	51490	broad.mit.edu	37	9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	56							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18104	0.001		0.0	False		,,,				2504	0.0					ENST00000361256.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(166-168)cGc>cAc		chromosome 9 open reading frame 114							102.0	105.0	104.0					9																	131591055		2203	4300	6503	SO:0001583	missense	51490	2	121412	42				g.chr9:131591055C>T		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.167G>A	chr9.hg19:g.131591055C>T	ENSP00000354812:p.Arg56His	0						p.R56H	NM_016390.3	NP_057474.2	0	0	0	1.941936	Q5T280	CI114_HUMAN		3	207	-			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	1	1	hg19	c.167G>A	CCDS6913.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.756269	0.49362	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23754	1.89	4.69	-4.72	0.03269	4.69	-4.72	0.03269	.	0.936047	0.09163	N	0.839890	T	0.16769	0.0403	L	0.43152	1.355	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.45353	T	0.12	0.5691	4.5371	0.12038	0.5098:0.1352:0.0:0.355	.	56;56	E7ESY7;Q5T280	.;CI114_HUMAN	H	56	ENSP00000354812:R56H	ENSP00000354812:R56H	R	-	2	0	0	C9orf114	130630876	130630876	0.014000	0.17966	0.699000	0.30290	0.735000	0.41995	-0.488000	0.06497	-0.778000	0.04566	0.561000	0.74099	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	1	0	0		2	2	2	0		0	0	151		151	149	1	2.060000	-20.000000	1	0.170000	NM_016390			127	123		658	642	1		1	1		0	0	151	0		1	1	0	40	0	110	0	127	658
C9orf114	51490	broad.mit.edu	37	9	131591124	131591124	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591124T>C	ENST00000361256.5	-	3	138	c.98A>G	c.(97-99)aAa>aGa	p.K33R		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	33							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTTCCATTTTTTTTTCTCCTC	0.527																																						ENST00000361256.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(97-99)aAa>aGa		chromosome 9 open reading frame 114							113.0	119.0	117.0					9																	131591124		2203	4300	6503	SO:0001583	missense	51490	0	0					g.chr9:131591124T>C		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.98A>G	chr9.hg19:g.131591124T>C	ENSP00000354812:p.Lys33Arg	0						p.K33R	NM_016390.3	NP_057474.2	0	0	0	1.941936	Q5T280	CI114_HUMAN		3	138	-			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	1	0	hg19	c.98A>G	CCDS6913.1	1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651316	0.29336	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24908	1.83	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.092768	0.64402	D	0.000001	T	0.20292	0.0488	L	0.52126	1.63	0.36410	D	0.86368	P;B	0.42409	0.779;0.289	B;B	0.32149	0.141;0.048	T	0.23440	-1.0188	10	0.18710	T	0.47	-15.4133	14.4699	0.67509	0.0:0.0:0.0:1.0	.	33;33	E7ESY7;Q5T280	.;CI114_HUMAN	R	33	ENSP00000354812:K33R	ENSP00000354812:K33R	K	-	2	0	0	C9orf114	130630945	130630945	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.638000	0.54332	2.068000	0.61886	0.459000	0.35465	AAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	1	0	0		2	2	2	0		0	0	172		172	167	1	2.060000	-20.000000	1	0.170000	NM_016390			149	147		659	654	1		1	1		0	0	172	0		1	9.999982e-01	0	22	0	61	0	149	659
CCBL1	883	broad.mit.edu	37	9	131598099	131598099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131598099C>T	ENST00000302586.3	-	9	976	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.V366M|CCBL1_ENST00000320665.6_Missense_Mutation_p.V222M	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	272					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TTCTGGTGCACGGTCCGCAGG	0.647																																						ENST00000302586.3	1.000000	0.490000	1	6.700000e-01	0.890000	0.854997	0.890000	1.000000																										0				18						c.(814-816)Gtg>Atg		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)						34.0	37.0	36.0					9																	131598099		2035	4185	6220	SO:0001583	missense	883	4	120966	31				g.chr9:131598099C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.814G>A	chr9.hg19:g.131598099C>T	ENSP00000302227:p.Val272Met	0					CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.V222M|CCBL1_ENST00000436267.2_Missense_Mutation_p.V366M	p.V272M	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	0	0	0	1.941936	Q16773	KAT1_HUMAN		9	976	-			Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	0	0	hg19	c.814G>A	CCDS43884.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512450	0.64522	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90732	-2.72;-2.72;-2.72	5.3	5.3	0.74995	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.114105	0.64402	D	0.000013	D	0.95265	0.8464	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.996;0.962;1.0;0.962	P;P;D;P	0.77004	0.685;0.472;0.989;0.472	D	0.95540	0.8611	10	0.66056	D	0.02	-23.6335	17.9232	0.88973	0.0:1.0:0.0:0.0	.	366;272;222;272	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	M	272;222;366	ENSP00000302227:V272M;ENSP00000317342:V222M;ENSP00000399415:V366M	ENSP00000302227:V272M	V	-	1	0	0	CCBL1	130637920	130637920	0.997000	0.39634	0.836000	0.33094	0.925000	0.55904	3.564000	0.53791	2.468000	0.83385	0.436000	0.28706	GTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-16.771760	1	0.170000				12	12		142	141	1		1	1		0	0	40	0		9.992078e-01	7.300220e-01	0	7	0	25	0	12	142
LRRC8A	56262	broad.mit.edu	37	9	131669896	131669896	+	Silent	SNP	G	G	A	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372599.3_Silent_p.S151S|LRRC8A_ENST00000372600.4_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	151					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587																																						ENST00000259324.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999826	0.990000	1.000000																										0				28						c.(451-453)tcG>tcA		leucine rich repeat containing 8 family, member A		G	,,	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	65.0		453,453,453	-1.9	1.0	9	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	151/811,151/811,151/811	131669896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56262	2	121412	34				g.chr9:131669896G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.453G>A	chr9.hg19:g.131669896G>A		0					LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	p.S151S	NM_001127244.1	NP_001120716.1	0	0	0	1.941936	Q8IWT6	LRC8A_HUMAN		3	976	+			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	1	1	hg19	c.453G>A	CCDS35155.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_019594			39	39		242	238	1		1	1		0	0	46	0		1	1	0	30	0	165	0	39	242
DOLK	22845	broad.mit.edu	37	9	131708326	131708326	+	Silent	SNP	G	G	T	rs138962748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGATCAGCCAGATGGGAAGAG	0.582																																						ENST00000372586.3	0.630000	0.230000	5.200000e-01	3.100000e-01	0.400000	0.420851	0.400000	0.390000																										0				11						c.(1255-1257)atC>atA		dolichol kinase							90.0	91.0	90.0					9																	131708326		2203	4300	6503	SO:0001819	synonymous_variant	22845	0	0					g.chr9:131708326G>T	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1257C>A	chr9.hg19:g.131708326G>T		0					NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	p.I419I	NM_014908.3	NP_055723.1	0	0	0	1.941936	Q9UPQ8	DOLK_HUMAN		1	1572	-			Q5SRE6	Silent	SNP	ENST00000372586.3	1	1	hg19	c.1257C>A	CCDS6915.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-14.004610	1	0.170000	NM_014908			14	14		386	372	0		1	1		0	0	91	0		9.996979e-01	9.558423e-01	0	9	0	138	0	14	386
DOLK	22845	broad.mit.edu	37	9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	323					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557																																						ENST00000372586.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(967-969)Tca>Cca		dolichol kinase							129.0	146.0	141.0					9																	131708616		2203	4300	6503	SO:0001583	missense	22845	5	121412	38				g.chr9:131708616A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.967T>C	chr9.hg19:g.131708616A>G	ENSP00000361667:p.Ser323Pro	0					NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	p.S323P	NM_014908.3	NP_055723.1	0	0	0	1.941936	Q9UPQ8	DOLK_HUMAN		1	1282	-			Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	1	1	hg19	c.967T>C	CCDS6915.1	1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625767	0.28889	.	.	ENSG00000175283	ENST00000372586	D	0.84660	-1.88	5.34	2.88	0.33553	5.34	2.88	0.33553	.	0.407216	0.22669	N	0.057092	T	0.76176	0.3951	N	0.25485	0.75	0.23406	N	0.997742	B	0.25441	0.126	B	0.28709	0.093	T	0.64833	-0.6314	10	0.48119	T	0.1	-1.0358	10.5923	0.45316	0.6909:0.309:0.0:0.0	.	323	Q9UPQ8	DOLK_HUMAN	P	323	ENSP00000361667:S323P	ENSP00000361667:S323P	S	-	1	0	0	DOLK	130748437	130748437	0.999000	0.42202	0.959000	0.39883	0.970000	0.65996	3.698000	0.54771	0.287000	0.22375	0.379000	0.24179	TCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	1	0	1		2	2	2	0		0	0	242		242	240	1	2.060000	-20.000000	1	0.170000	NM_014908			241	235		973	948	1		1	1		0	0	242	0		1	1	0	35	0	64	0	241	973
DOLK	22845	broad.mit.edu	37	9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	50					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607																																						ENST00000372586.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(148-150)gCa>gTa		dolichol kinase							77.0	74.0	75.0					9																	131709434		2203	4300	6503	SO:0001583	missense	22845	0	0					g.chr9:131709434G>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.149C>T	chr9.hg19:g.131709434G>A	ENSP00000361667:p.Ala50Val	0					NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	p.A50V	NM_014908.3	NP_055723.1	0	0	0	1.941936	Q9UPQ8	DOLK_HUMAN		1	464	-			Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	1	1	hg19	c.149C>T	CCDS6915.1	1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84070	-1.8	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.169585	0.39544	N	0.001340	D	0.85340	0.5674	L	0.51422	1.61	0.58432	D	0.99999	P	0.49961	0.93	P	0.50440	0.641	D	0.86253	0.1650	10	0.62326	D	0.03	-12.3049	18.7019	0.91623	0.0:0.0:1.0:0.0	.	50	Q9UPQ8	DOLK_HUMAN	V	50	ENSP00000361667:A50V	ENSP00000361667:A50V	A	-	2	0	0	DOLK	130749255	130749255	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.601000	0.82783	2.655000	0.90218	0.462000	0.41574	GCA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_014908			75	75		263	259	1		1	1		0	0	71	0		1	9.999736e-01	0	23	0	34	0	75	263
NUP188	23511	broad.mit.edu	37	9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	233					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)				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						CAGTGACTTACTTGTATTAAC	0.428																																						ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(697-699)Ctt>Ttt		nucleoporin 188kDa							162.0	150.0	154.0					9																	131730896		2203	4300	6503	SO:0001583	missense	23511	0	0					g.chr9:131730896C>T	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.697C>T	chr9.hg19:g.131730896C>T	ENSP00000361658:p.Leu233Phe	0						p.L233F	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		9	718	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	1	1	hg19	c.697C>T	CCDS35156.1	1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.613707	0.46631	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35048	1.33	5.53	-2.97	0.05530	5.53	-2.97	0.05530	.	0.193822	0.45867	N	0.000321	T	0.38558	0.1045	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.39035	-0.9633	10	0.33940	T	0.23	-25.4788	11.839	0.52342	0.0:0.5586:0.0:0.4414	.	233	Q5SRE5	NU188_HUMAN	F	122;233	ENSP00000361658:L233F	ENSP00000349125:L122F	L	+	1	0	0	NUP188	130770717	130770717	0.007000	0.16637	0.000000	0.03702	0.644000	0.38419	0.153000	0.16323	-0.855000	0.04125	-0.213000	0.12676	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000				99	96		445	433	1		1	1		0	0	95	0		1	9.999635e-01	0	15	0	53	0	99	445
NUP188	23511	broad.mit.edu	37	9	131749134	131749134	+	Silent	SNP	C	C	T	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	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)|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)				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						ACCTGTGCCACGAGACAGACC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19582	0.0		0.0	False		,,,				2504	0.0					ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2242-2244)caC>caT		nucleoporin 188kDa		C		1,4405	2.1+/-5.4	0,1,2202	107.0	93.0	98.0		2244	-8.9	0.7	9	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	NUP188	NM_015354.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		748/1750	131749134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23511	6	121412	42				g.chr9:131749134C>T	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.2244C>T	chr9.hg19:g.131749134C>T		0						p.H748H	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		22	2265	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	1	1	hg19	c.2244C>T	CCDS35156.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.191829	1	0.170000				60	59		268	264	1		1	1		0	0	64	0		1	9.999981e-01	0	32	0	57	0	60	268
NUP188	23511	broad.mit.edu	37	9	131755935	131755935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	993					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)				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						CTCTGTGGCAGGATCGGAGGG	0.512																																						ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2977-2979)caG>caA		nucleoporin 188kDa							112.0	89.0	97.0					9																	131755935		2203	4300	6503	SO:0001819	synonymous_variant	23511	0	0					g.chr9:131755935G>A	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.2979G>A	chr9.hg19:g.131755935G>A		0						p.Q993Q	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		27	3000	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	1	1	hg19	c.2979G>A	CCDS35156.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	0		2	2	2	0		0	0	64		64	62	1	2.060000	-3.619838	1	0.170000				57	57		230	226	0		1	1		0	0	64	0		1	9.999995e-01	0	28	0	63	0	57	230
NUP188	23511	broad.mit.edu	37	9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	995				R -> W (in Ref. 5; AAH40352). {ECO:0000305}.	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)				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						GTGGCAGGATCGGAGGGACAG	0.507																																						ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(2983-2985)Cgg>Tgg		nucleoporin 188kDa							109.0	87.0	94.0					9																	131755939		2203	4300	6503	SO:0001583	missense	23511	0	0					g.chr9:131755939C>T	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.2983C>T	chr9.hg19:g.131755939C>T	ENSP00000361658:p.Arg995Trp	0						p.R995W	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		27	3004	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	1	1	hg19	c.2983C>T	CCDS35156.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570353	0.86542	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.62011	-0.6944	10	0.87932	D	0	0.1735	18.8488	0.92218	0.0:1.0:0.0:0.0	.	328;995	E9PET9;Q5SRE5	.;NU188_HUMAN	W	884;995	ENSP00000361658:R995W	ENSP00000349125:R884W	R	+	1	2	2	NUP188	130795760	130795760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.400000	0.66320	2.767000	0.95098	0.655000	0.94253	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	0		2	2	2	0		0	0	59		59	57	1	2.060000	-2.982741	1	0.170000				52	52		220	215	0		1	1		0	0	59	0		1	9.999973e-01	0	25	0	59	0	52	220
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					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)				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						ACCCGCCACAGTCTGGCATTA	0.572																																						ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				60						c.(3754-3756)aGt>aAt		nucleoporin 188kDa							75.0	65.0	68.0					9																	131761996		2203	4300	6503	SO:0001583	missense	23511	0	0					g.chr9:131761996G>A	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.3755G>A	chr9.hg19:g.131761996G>A	ENSP00000361658:p.Ser1252Asn	0						p.S1252N	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		34	3776	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	1	1	hg19	c.3755G>A	CCDS35156.1	1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197801	0.22037	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.249110	0.46145	D	0.000301	T	0.26955	0.0660	L	0.60455	1.87	0.34919	D	0.748258	P;B	0.34462	0.454;0.244	B;B	0.29663	0.105;0.037	T	0.34229	-0.9837	10	0.23302	T	0.38	-29.9441	11.3822	0.49763	0.0831:0.0:0.9169:0.0	.	585;1252	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1141;1252	ENSP00000361658:S1252N	ENSP00000349125:S1141N	S	+	2	0	0	NUP188	130801817	130801817	1.000000	0.71417	0.977000	0.42913	0.531000	0.34715	2.879000	0.48522	2.473000	0.83533	0.563000	0.77884	AGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1		2	2	2	0		0	0	71		71	48	1	2.060000	-20.000000	1	0.170000				45	33		218	174	1		1	1		0	0	71	0		1	9.999992e-01	0	27	0	80	0	45	218
NUP188	23511	broad.mit.edu	37	9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1286					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)				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						TGTGTCCTGGGCCTGCACCTG	0.612																																						ENST00000372577.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999097	0.990000	1.000000																										0				60						c.(3856-3858)gGc>gAc		nucleoporin 188kDa							62.0	56.0	58.0					9																	131763821		2203	4300	6503	SO:0001583	missense	23511	0	0					g.chr9:131763821G>A	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.3857G>A	chr9.hg19:g.131763821G>A	ENSP00000361658:p.Gly1286Asp	0					RP11-167N5.5_ENST00000594418.1_lincRNA	p.G1286D	NM_015354.1	NP_056169.1	0	0	0	1.941936	Q5SRE5	NU188_HUMAN		35	3878	+			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	1	1	hg19	c.3857G>A	CCDS35156.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180739	0.78677	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.051262	0.85682	D	0.000000	T	0.69620	0.3131	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.54397	0.966;0.952	P;P	0.49140	0.543;0.601	T	0.74657	-0.3592	10	0.72032	D	0.01	-6.8777	17.8614	0.88783	0.0:0.0:1.0:0.0	.	619;1286	E9PET9;Q5SRE5	.;NU188_HUMAN	D	1175;1286	ENSP00000361658:G1286D	ENSP00000349125:G1175D	G	+	2	0	0	NUP188	130803642	130803642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.473000	0.83533	0.313000	0.20887	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-20.000000	1	0.170000				36	36		247	244	1		1	1		0	0	58	0		1	9.998484e-01	0	18	0	75	0	36	247
MPDZ	8777	broad.mit.edu	37	9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	709	PDZ 5. {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)			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)		AAACCAAGTCCTTTGCTCCCT	0.413																																						ENST00000319217.7	1.000000	0.570000	1	7.700000e-01	0.990000	0.917109	0.990000	1.000000																										0				61						c.(2125-2127)Gga>Tga		multiple PDZ domain protein							74.0	69.0	71.0					9																	13190142		1960	4155	6115	SO:0001587	stop_gained	8777	0	0					g.chr9:13190142C>A	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.2125G>T	chr9.hg19:g.13190142C>A	ENSP00000320006:p.Gly709*	0					MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*	p.G709*	NM_001261406.1	NP_001248335.1	0	0	0	1.928190	O75970	MPDZ_HUMAN		16	2372	-			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	ENST00000319217.7	0	1	hg19	c.2125G>T		1	.	.	.	.	.	.	.	.	.	.	C	45	11.594559	0.99580	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.42821	D	0.000653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	709;709;709;709;709;709;659;709	.	ENSP00000320006:G709X	G	-	1	0	0	MPDZ	13180142	13180142	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-17.988300	1	0.170000	NM_003829			12	12		119	116	0		1	0		0	0	19	0		9.991515e-01	6.268035e-01	0	0	0	22	0	12	119
FAM73B	84895	broad.mit.edu	37	9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	440					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642																																						ENST00000358369.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				13						c.(1318-1320)Gac>Aac		family with sequence similarity 73, member B							121.0	102.0	108.0					9																	131830525		2203	4300	6503	SO:0001583	missense	84895	0	0					g.chr9:131830525G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1318G>A	chr9.hg19:g.131830525G>A	ENSP00000351138:p.Asp440Asn	0					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.D440N	NM_032809.2	NP_116198.2	0	0	0	1.941936	Q7L4E1	FA73B_HUMAN		13	1544	+			Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	1	1	hg19	c.1318G>A	CCDS6917.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.588139	0.96590	.	.	ENSG00000148343	ENST00000358369	T	0.52295	0.67	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79193	-0.1904	10	0.87932	D	0	-33.4835	17.967	0.89102	0.0:0.0:1.0:0.0	.	504;440	B4DZP8;Q7L4E1	.;FA73B_HUMAN	N	440	ENSP00000351138:D440N	ENSP00000351138:D440N	D	+	1	0	0	FAM73B	130870346	130870346	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	1	0	0		2	2	2	0		0	0	90		90	89	1	2.060000	-20.000000	1	0.170000	NM_032809			60	60		333	326	1		1	1		0	0	90	0		1	9.201898e-01	0	5	0	21	0	60	333
PPP2R4	5524	broad.mit.edu	37	9	131909734	131909734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131909734G>A	ENST00000337738.1	+	11	1335	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	356					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATCCTGTCACGTCGGGCTAGG	0.637																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1	0.610000	0.140000	4.700000e-01	2.200000e-01	0.330000	0.356286	0.330000	0.310000																										0				12						c.(1066-1068)acG>acA		protein phosphatase 2A activator, regulatory subunit 4							61.0	49.0	53.0					9																	131909734		2203	4300	6503	SO:0001819	synonymous_variant	5524	5	121410	37				g.chr9:131909734G>A	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1068G>A	chr9.hg19:g.131909734G>A		0					PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T	p.T356T	NM_178001.2	NP_821068.1	0	0	0	1.941936	Q15257	PTPA_HUMAN		11	1335	+		Medulloblastoma(224;0.235)	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Silent	SNP	ENST00000337738.1	0	1	hg19	c.1068G>A		0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-8.172678	1	0.170000	NM_021131			7	7		242	236	0		1	1		0	0	55	0		9.792944e-01	9.991671e-01	0	18	0	490	0	7	242
MPDZ	8777	broad.mit.edu	37	9	13247772	13247772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13247772C>T	ENST00000319217.7	-	3	292	c.45G>A	c.(43-45)gaG>gaA	p.E15E	MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000546205.1_Silent_p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	15	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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)			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)		TTTGCAAGCGCTCTGCTGCAT	0.488																																						ENST00000319217.7	0.270000	0.100000	2.300000e-01	1.400000e-01	0.170000	0.188295	0.170000	0.180000																										0				61						c.(43-45)gaG>gaA		multiple PDZ domain protein							250.0	238.0	242.0					9																	13247772		1918	4134	6052	SO:0001819	synonymous_variant	8777	0	0					g.chr9:13247772C>T	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.45G>A	chr9.hg19:g.13247772C>T		0					MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000546205.1_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E	p.E15E	NM_001261406.1	NP_001248335.1	0	0	0	1.928190	O75970	MPDZ_HUMAN		3	292	-			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	0	1	hg19	c.45G>A		0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	0	0	1		2	2	2	0		0	0	262		262	262	1	2.060000	-3.076298	1	0.170000	NM_003829			19	19		1180	1158	0		1	0		0	0	262	0		9.999883e-01	3.669787e-02	0	0	0	18	0	19	1180
IER5L	389792	broad.mit.edu	37	9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	12													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667																																						ENST00000372491.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998714	0.990000	1.000000																										0										c.(34-36)aGc>aTc		immediate early response 5-like							19.0	23.0	22.0					9																	131940297		2164	4285	6449	SO:0001583	missense	389792	0	0					g.chr9:131940297C>A	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.35G>T	chr9.hg19:g.131940297C>A	ENSP00000361569:p.Ser12Ile	0					RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	p.S12I	NM_203434.2	NP_982258.2	0	0	0	1.941936	Q5T953	IER5L_HUMAN		1	243	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	1	1	hg19	c.35G>T	CCDS43888.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103186	0.56183	.	.	ENSG00000188483	ENST00000372491	T	0.18016	2.24	3.73	1.72	0.24424	3.73	1.72	0.24424	.	0.224820	0.36101	U	0.002792	T	0.13286	0.0322	L	0.32530	0.975	0.30159	N	0.802383	P	0.45634	0.863	B	0.43783	0.431	T	0.06844	-1.0804	10	0.87932	D	0	-12.8614	6.8164	0.23833	0.0:0.6869:0.1959:0.1172	.	12	Q5T953	IER5L_HUMAN	I	12	ENSP00000361569:S12I	ENSP00000361569:S12I	S	-	2	0	0	IER5L	130980118	130980118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.473000	0.53122	0.779000	0.33543	0.298000	0.19748	AGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999990	1	0.170000				13	13		48	47	0		1	1		0	0	10	0		9.997015e-01	9.999351e-01	0	12	0	62	0	13	48
C9orf78	51759	broad.mit.edu	37	9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478																																						ENST00000372447.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(826-828)gaC>gaA		chromosome 9 open reading frame 78							222.0	193.0	203.0					9																	132590482		2203	4300	6503	SO:0001583	missense	51759	0	0					g.chr9:132590482G>T	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.828C>A	chr9.hg19:g.132590482G>T	ENSP00000361524:p.Asp276Glu	0					C9orf78_ENST00000461762.1_5'Flank	p.D276E	NM_016520.2	NP_057604.1	0	0	0	1.941936	Q9NZ63	CI078_HUMAN		9	881	-		Ovarian(14;0.00556)	B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	1	1	hg19	c.828C>A	CCDS6931.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657856	0.67586	.	.	ENSG00000136819	ENST00000372447	T	0.49139	0.79	5.56	-0.113	0.13568	5.56	-0.113	0.13568	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.78049	2.395	0.58432	D	0.999995	D	0.67145	0.996	P	0.58210	0.835	T	0.53676	-0.8405	10	0.46703	T	0.11	.	6.1692	0.20408	0.362:0.0:0.5116:0.1265	.	276	Q9NZ63	CI078_HUMAN	E	276	ENSP00000361524:D276E	ENSP00000361524:D276E	D	-	3	2	2	C9orf78	131630303	131630303	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.631000	0.46502	0.056000	0.16144	-0.181000	0.13052	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	1	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-20.000000	1	0.170000	NM_016520			90	89		491	477	1		1	1		0	0	131	0		1	1	0	65	0	212	0	90	491
USP20	10868	broad.mit.edu	37	9	132631614	132631614	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132631614G>T	ENST00000315480.4	+	13	1460	c.1302G>T	c.(1300-1302)cgG>cgT	p.R434R	USP20_ENST00000358355.1_Silent_p.R434R|USP20_ENST00000372429.3_Silent_p.R434R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	434	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGGCAGCCGGAGGCGGAAGG	0.657																																						ENST00000315480.4	0.460000	0.210000	4.000000e-01	2.600000e-01	0.320000	0.334475	0.320000	0.320000																										0				11						c.(1300-1302)cgG>cgT		ubiquitin specific peptidase 20							76.0	87.0	83.0					9																	132631614		2103	4229	6332	SO:0001819	synonymous_variant	10868	0	0					g.chr9:132631614G>T	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.1302G>T	chr9.hg19:g.132631614G>T		0					USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R	p.R434R			0	0	0	1.941936	Q9Y2K6	UBP20_HUMAN		13	1460	+		Ovarian(14;0.00556)	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	1	1	hg19	c.1302G>T	CCDS43892.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	0	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-2.494736	0	0.170000				26	25		890	874	0		1	1		0	0	131	0		9.999999e-01	5.053173e-01	0	2	0	56	0	26	890
USP20	10868	broad.mit.edu	37	9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A	rs368318142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R889H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	889	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632																																						ENST00000315480.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(2665-2667)cGc>cAc		ubiquitin specific peptidase 20		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4126		0,0,2063	31.0	42.0	38.0		2666,2666,2666	5.1	1.0	9		38	1,8401		0,1,4200	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	29,29,29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	889/915,889/915,889/915	132642473	1,12527	2063	4201	6264	SO:0001583	missense	10868	3	120930	34				g.chr9:132642473G>A	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.2666G>A	chr9.hg19:g.132642473G>A	ENSP00000313811:p.Arg889His	0					USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR	p.R889H			0	0	0	1.941936	Q9Y2K6	UBP20_HUMAN		25	2824	+		Ovarian(14;0.00556)	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	1	1	hg19	c.2666G>A	CCDS43892.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070762	0.76301	0.0	1.19E-4	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.11	5.11	0.69529	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52548	-0.8561	10	0.87932	D	0	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	889	Q9Y2K6	UBP20_HUMAN	H	889	ENSP00000361506:R889H;ENSP00000313811:R889H;ENSP00000351122:R889H	ENSP00000313811:R889H	R	+	2	0	0	USP20	131682294	131682294	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	1	0	1		2	2	2	0		0	0	32		32	30	1	2.060000	-3.576681	1	0.170000				45	45		172	165	1		1	1		0	0	32	0		1	9.998700e-01	0	9	0	46	0	45	172
GPR107	57720	broad.mit.edu	37	9	132848734	132848734	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348																																						ENST00000372406.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(598-600)aaT>aaC		G protein-coupled receptor 107							200.0	194.0	196.0					9																	132848734		2203	4300	6503	SO:0001819	synonymous_variant	57720	0	0					g.chr9:132848734T>C	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.600T>C	chr9.hg19:g.132848734T>C		0					GPR107_ENST00000372410.3_Silent_p.N200N|GPR107_ENST00000347136.6_Silent_p.N200N	p.N200N	NM_001136557.1	NP_001130029.1	0	0	0	1.941936	Q5VW38	GP107_HUMAN		7	1107	+		Ovarian(14;0.000531)	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	1	1	hg19	c.600T>C	CCDS48041.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000				89	87		424	413	0		1	1		0	0	94	0		1	1	0	43	0	137	0	89	424
FUBP3	8939	broad.mit.edu	37	9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	349					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319725.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				21						c.(1045-1047)Gga>Aga		far upstream element (FUSE) binding protein 3							50.0	60.0	57.0					9																	133501820		2060	4219	6279	SO:0001583	missense	8939	0	0					g.chr9:133501820G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1045G>A	chr9.hg19:g.133501820G>A	ENSP00000318177:p.Gly349Arg	0		OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1603		p.G349R	NM_003934.1	NP_003925.1	0	0	0	1.941936	Q96I24	FUBP3_HUMAN		12	1120	+			A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	1	1	hg19	c.1045G>A	CCDS43893.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224625	0.79576	.	.	ENSG00000107164	ENST00000319725	T	0.54675	0.56	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.052210	0.85682	D	0.000000	T	0.63105	0.2483	M	0.71206	2.165	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54270	0.747;0.747	T	0.62854	-0.6766	10	0.40728	T	0.16	-16.8512	12.112	0.53844	0.0774:0.0:0.9226:0.0	.	349;349	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	349	ENSP00000318177:G349R	ENSP00000318177:G349R	G	+	1	0	0	FUBP3	132491641	132491641	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	8.055000	0.89453	2.677000	0.91161	0.655000	0.94253	GGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.582343	1	0.170000				34	33		141	138	1		1	1		0	0	40	0		1	1	0	45	0	172	0	34	141
ABL1	25	broad.mit.edu	37	9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	131	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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)	GTACCATGGGCCTGTGTCCCG	0.562			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5	0.890000	0.360000	7.400000e-01	4.600000e-01	0.590000	0.610947	0.590000	0.580000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	25	T, Mis	v-abl Abelson murine leukemia viral oncogene homolog 1				L	L	BCR, ETV6, NUP214		CML, ALL, T-ALL		0				1195						c.(391-393)Cct>Tct		ABL proto-oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)						128.0	102.0	111.0					9																	133730325		2203	4300	6503	SO:0001583	missense	25	0	0					g.chr9:133730325C>T	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.391C>T	chr9.hg19:g.133730325C>T	ENSP00000323315:p.Pro131Ser	0						p.P131S	NM_005157.4	NP_005148.2	0	0	0	1.941936	P00519	ABL1_HUMAN		3	772	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	1	1	hg19	c.391C>T	CCDS35166.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.157772	0.94686	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.11201	0.11	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.43478	0.421;0.421	D	0.84783	0.0774	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	131;168	P00519;Q59FK4	ABL1_HUMAN;.	S	150;131	ENSP00000361423:P150S;ENSP00000323315:P131S	ENSP00000323315:P131S	P	+	1	0	0	ABL1	132720146	132720146	1.000000	0.71417	0.914000	0.36105	0.984000	0.73092	7.744000	0.85034	2.677000	0.91161	0.638000	0.83543	CCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-18.845850	1	0.170000	NM_007313			17	17		312	306	0		1	1		0	0	75	0		9.999629e-01	9.450736e-01	0	3	0	89	0	17	312
ABL1	25	broad.mit.edu	37	9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	CCCTCCTTTGCTGAAATCCAC	0.532			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	25	T, Mis	v-abl Abelson murine leukemia viral oncogene homolog 1				L	L	BCR, ETV6, NUP214		CML, ALL, T-ALL		0				1195						c.(1459-1461)gCt>gAt		ABL proto-oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)						114.0	109.0	111.0					9																	133755491		2203	4300	6503	SO:0001583	missense	25	0	0					g.chr9:133755491C>A	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.1460C>A	chr9.hg19:g.133755491C>A	ENSP00000323315:p.Ala487Asp	0						p.A487D	NM_005157.4	NP_005148.2	0	0	0	1.941936	P00519	ABL1_HUMAN		9	1841	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	1	1	hg19	c.1460C>A	CCDS35166.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400895	0.83120	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	5.87	5.87	0.94306	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	T	0.78413	0.4279	L	0.39898	1.24	0.80722	D	1	P;P	0.45672	0.864;0.864	B;B	0.39258	0.295;0.295	T	0.78157	-0.2313	10	0.37606	T	0.19	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	487;524	P00519;Q59FK4	ABL1_HUMAN;.	D	302;506;487	ENSP00000361423:A506D;ENSP00000323315:A487D	ENSP00000323315:A487D	A	+	2	0	0	ABL1	132745312	132745312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.785000	0.95823	0.655000	0.94253	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000	NM_007313			76	76		406	401	1		1	1		0	0	110	0		1	1	0	43	0	138	0	76	406
ABL1	25	broad.mit.edu	37	9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	599					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)			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)	AGACCAACTTGTTCAGCGCCT	0.597			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5	1.000000	0.730000	1	8.200000e-01	0.930000	0.920591	0.930000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	25	T, Mis	v-abl Abelson murine leukemia viral oncogene homolog 1				L	L	BCR, ETV6, NUP214		CML, ALL, T-ALL		0				1195						c.(1795-1797)ttG>ttC		ABL proto-oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)						87.0	98.0	94.0					9																	133759474		2203	4300	6503	SO:0001583	missense	25	0	0					g.chr9:133759474G>C	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.1797G>C	chr9.hg19:g.133759474G>C	ENSP00000323315:p.Leu599Phe	0						p.L599F	NM_005157.4	NP_005148.2	0	0	0	1.941936	P00519	ABL1_HUMAN		11	2178	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	1	1	hg19	c.1797G>C	CCDS35166.1	1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.16457	2.34;2.34	5.47	1.45	0.22620	5.47	1.45	0.22620	.	0.069857	0.64402	D	0.000015	T	0.07503	0.0189	N	0.17082	0.46	0.37654	D	0.922527	B;B	0.14012	0.009;0.004	B;B	0.12837	0.008;0.008	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.1658	0.03836	0.228:0.2177:0.4413:0.1131	.	599;636	P00519;Q59FK4	ABL1_HUMAN;.	F	414;618;599	ENSP00000361423:L618F;ENSP00000323315:L599F	ENSP00000323315:L599F	L	+	3	2	2	ABL1	132749295	132749295	0.999000	0.42202	0.992000	0.48379	0.899000	0.52679	0.652000	0.24888	0.289000	0.22422	-0.258000	0.10820	TTG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	0		2	2	2	0		0	0	173		173	173	1	2.060000	-16.017070	1	0.170000	NM_007313			68	67		763	751	0		1	1		0	0	173	0		1	9.999869e-01	0	10	0	168	0	68	763
ABL1	25	broad.mit.edu	37	9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1009	F-actin-binding.|Pro-rich.				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)			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)	CATATCAACCCGAGTGTCTCT	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	25	T, Mis	v-abl Abelson murine leukemia viral oncogene homolog 1				L	L	BCR, ETV6, NUP214		CML, ALL, T-ALL		0				1195						c.(3025-3027)Cga>Tga		ABL proto-oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)						59.0	70.0	66.0					9																	133760702		2203	4300	6503	SO:0001587	stop_gained	25	0	0					g.chr9:133760702C>T	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.3025C>T	chr9.hg19:g.133760702C>T	ENSP00000323315:p.Arg1009*	0						p.R1009*	NM_005157.4	NP_005148.2	0	0	0	1.941936	P00519	ABL1_HUMAN		11	3406	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	0	1	hg19	c.3025C>T	CCDS35166.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.274030	0.99373	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4781	0.61320	0.1667:0.8333:0.0:0.0	.	.	.	.	X	824;1028;1009	.	ENSP00000323315:R1009X	R	+	1	2	2	ABL1	132750523	132750523	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	3.861000	0.56002	2.457000	0.83068	0.555000	0.69702	CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	0		2	2	2	0		0	0	126		126	119	1	2.060000	-2.379854	0	0.170000	NM_007313			114	114		550	538	1		1	1		0	0	126	0		1	1	0	29	0	109	0	114	550
ABL1	25	broad.mit.edu	37	9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T	rs367600262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1038	F-actin-binding.				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)			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)	AGCACCGAGGCGCTGTGCCTC	0.622			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		15932	0.0		0.0	False		,,,				2504	0.0					ENST00000318560.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	25	T, Mis	v-abl Abelson murine leukemia viral oncogene homolog 1				L	L	BCR, ETV6, NUP214		CML, ALL, T-ALL		0				1195						c.(3112-3114)gCg>gTg		ABL proto-oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	51.0	55.0	53.0		3113,3170	5.3	1.0	9		53	0,8600		0,0,4300	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1038/1131,1057/1150	133760790	1,13005	2203	4300	6503	SO:0001583	missense	25	18	121406	43				g.chr9:133760790C>T	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.3113C>T	chr9.hg19:g.133760790C>T	ENSP00000323315:p.Ala1038Val	0						p.A1038V	NM_005157.4	NP_005148.2	0	0	0	1.941936	P00519	ABL1_HUMAN		11	3494	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	1	1	hg19	c.3113C>T	CCDS35166.1	1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430541	0.62844	2.27E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	5.26	5.26	0.73747	F-actin binding (2);	0.242574	0.42294	D	0.000736	T	0.23532	0.0569	L	0.36672	1.1	0.40595	D	0.981528	P;P	0.49862	0.929;0.929	B;B	0.41271	0.352;0.352	T	0.03750	-1.1007	10	0.14252	T	0.57	.	13.5841	0.61919	0.0:0.8444:0.1556:0.0	.	1038;1075	P00519;Q59FK4	ABL1_HUMAN;.	V	853;1057;1038	ENSP00000361423:A1057V;ENSP00000323315:A1038V	ENSP00000323315:A1038V	A	+	2	0	0	ABL1	132750611	132750611	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.145000	0.50623	2.457000	0.83068	0.555000	0.69702	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	0		2	2	2	0		0	0	85		85	84	1	2.060000	-20.000000	1	0.170000	NM_007313			83	81		382	372	1		1	1		0	0	85	0		1	1	0	14	0	107	0	83	382
FIBCD1	84929	broad.mit.edu	37	9	133779547	133779547	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000448616.1_Silent_p.S430S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	430	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632																																						ENST00000372338.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(1288-1290)tcC>tcA		fibrinogen C domain containing 1							119.0	103.0	108.0					9																	133779547		2203	4300	6503	SO:0001819	synonymous_variant	84929	0	0					g.chr9:133779547G>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1290C>A	chr9.hg19:g.133779547G>T		0					FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000372337.2_Silent_p.S272S	p.S430S	NM_032843.4	NP_116232.3	0	0	0	1.941936	Q8N539	FBCD1_HUMAN		7	1532	-	all_hematologic(7;0.0028)		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	1	1	hg19	c.1290C>A	CCDS6937.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	1	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-3.543612	1	0.170000	NM_032843			132	131		527	515	1		1	1		0	0	125	0		1	9.999535e-01	0	29	0	30	0	132	527
LAMC3	10319	broad.mit.edu	37	9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	638	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)			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)		CTCCGCCTCCGCGTCAGTCCC	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1912-1914)cGc>cAc		laminin, gamma 3		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	29.0	29.0		1913	-9.1	0.0	9	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	yes	missense	LAMC3	NM_006059.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	638/1576	133928326	2,13000	2203	4298	6501	SO:0001583	missense	10319	11	121372	38				g.chr9:133928326G>A	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.1913G>A	chr9.hg19:g.133928326G>A	ENSP00000354360:p.Arg638His	0		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.R638H	NM_006059.3	NP_006050.3	0	0	0	1.941936	Q9Y6N6	LAMC3_HUMAN		11	2046	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	1	1	hg19	c.1913G>A	CCDS6938.1	1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458196	0.63401	2.27E-4	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.50277	0.75	5.65	-9.09	0.00717	5.65	-9.09	0.00717	Laminin B type IV (2);	0.604497	0.18674	N	0.134377	T	0.52403	0.1732	M	0.79614	2.46	0.09310	N	1	P	0.39809	0.689	P	0.47573	0.55	T	0.60419	-0.7267	10	0.49607	T	0.09	.	17.3735	0.87385	0.6445:0.0:0.3555:0.0	.	638	Q9Y6N6	LAMC3_HUMAN	H	638	ENSP00000354360:R638H	ENSP00000347156:R638H	R	+	2	0	0	LAMC3	132918147	132918147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.071000	0.03437	-1.933000	0.01052	-2.532000	0.00182	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_006059			50	50		174	170	1		1	0		0	0	46	0		1	9.140333e-01	0	1	0	16	0	50	174
LAMC3	10319	broad.mit.edu	37	9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T	rs376347098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	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.A1380V(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)		ACCAAGCAGGCGGAGAGGATG	0.597																																						ENST00000361069.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999856	0.990000	1.000000																										1	Substitution - Missense(1)	p.A1380V(1)	prostate(1)	69						c.(4138-4140)gCg>gTg		laminin, gamma 3							100.0	94.0	96.0					9																	133961019		2203	4300	6503	SO:0001583	missense	10319	0	0					g.chr9:133961019C>T	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.4139C>T	chr9.hg19:g.133961019C>T	ENSP00000354360:p.Ala1380Val	0					LAMC3_ENST00000480883.1_Intron	p.A1380V	NM_006059.3	NP_006050.3	0	0	0	1.941936	Q9Y6N6	LAMC3_HUMAN		25	4272	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	1	1	hg19	c.4139C>T	CCDS6938.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.87|14.87	2.663742|2.663742	0.47572|0.47572	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	T|.	0.38560|.	1.13|.	5.11|5.11	0.869|0.869	0.19096|0.19096	5.11|5.11	0.869|0.869	0.19096|0.19096	.|.	0.394550|.	0.25750|.	N|.	0.028548|.	T|T	0.52533|0.52533	0.1740|0.1740	M|M	0.74881|0.74881	2.28|2.28	0.26272|0.26272	N|N	0.978417|0.978417	B;P|.	0.41345|.	0.189;0.746|.	B;B|.	0.36504|.	0.017;0.226|.	T|T	0.46789|0.46789	-0.9166|-0.9166	10|5	0.54805|.	T|.	0.06|.	.|.	7.328|7.328	0.26566|0.26566	0.0:0.58:0.0:0.42|0.0:0.58:0.0:0.42	.|.	61;1380|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|W	1380;1392|62	ENSP00000354360:A1380V|.	ENSP00000347156:A1392V|.	A|R	+|+	2|1	0|2	0|2	LAMC3|LAMC3	132950840|132950840	132950840|132950840	0.085000|0.085000	0.21516|0.21516	0.976000|0.976000	0.42696|0.42696	0.820000|0.820000	0.46376|0.46376	0.108000|0.108000	0.15396|0.15396	-0.035000|-0.035000	0.13691|0.13691	-0.224000|-0.224000	0.12420|0.12420	GCG|CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-3.222449	1	0.170000	NM_006059			44	43		282	274	1		1	0		0	0	66	0		1	6.224080e-01	0	0	0	15	0	44	282
NUP214	8021	broad.mit.edu	37	9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	592	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)			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)		TTTCAGGTTTACTGCTGCAGC	0.483			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996764	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	8021	T	nucleoporin 214kDa (CAN)				L	L	DEK, SET, ABL1		AML, T-ALL		0				86						c.(1774-1776)Act>Gct		nucleoporin 214kDa							185.0	188.0	187.0					9																	134021520		2203	4300	6503	SO:0001583	missense	8021	1	121412	37				g.chr9:134021520A>G	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.1774A>G	chr9.hg19:g.134021520A>G	ENSP00000352400:p.Thr592Ala	0					RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA	p.T592A			0	0	0	1.941936	P35658	NU214_HUMAN		13	1918	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	1	1	hg19	c.1774A>G	CCDS6940.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.547827|1.547827	0.27652|0.27652	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000451030;ENST00000540899;ENST00000438605|ENST00000530863	T;T|.	0.31769|.	1.49;1.48|.	5.29|5.29	-1.79|-1.79	0.07932|0.07932	5.29|5.29	-1.79|-1.79	0.07932|0.07932	.|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.30078|.	T|.	0.28|.	.|.	1.5927|1.5927	0.02657|0.02657	0.4304:0.2805:0.166:0.1232|0.4304:0.2805:0.166:0.1232	.|.	185;592|.	Q5JUP9;P35658|.	.;NU214_HUMAN|.	A|C	592;592;185;21|167	ENSP00000352400:T592A;ENSP00000405014:T592A|.	ENSP00000352400:T592A|.	T|Y	+|+	1|2	0|0	0|0	NUP214|NUP214	133011341|133011341	133011341|133011341	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.129000|0.129000	0.20672|0.20672	0.585000|0.585000	0.23879|0.23879	0.007000|0.007000	0.14760|0.14760	0.402000|0.402000	0.26972|0.26972	ACT|TAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1		2	2	2	0		0	0	265		265	263	1	2.060000	-20.000000	1	0.170000	NM_005085			140	139		1292	1263	0		1	1		0	0	265	0		1	9.576393e-01	0	7	0	42	0	140	1292
NUP214	8021	broad.mit.edu	37	9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D			P35658	NU214_HUMAN	nucleoporin 214kDa	1646	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)			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)		TCCGTCTTTGCTCAGCCTCCT	0.597			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	8021	T	nucleoporin 214kDa (CAN)				L	L	DEK, SET, ABL1		AML, T-ALL		0				86						c.(4936-4938)gCt>gAt		nucleoporin 214kDa							138.0	112.0	121.0					9																	134073818		2203	4300	6503	SO:0001583	missense	8021	0	0					g.chr9:134073818C>A	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.4937C>A	chr9.hg19:g.134073818C>A	ENSP00000352400:p.Ala1646Asp	0					NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D	p.A1646D			0	0	0	1.941936	P35658	NU214_HUMAN		29	5081	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	1	1	hg19	c.4937C>A	CCDS6940.1	1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057623	0.55325	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.45;0.89;0.89;0.89;0.85	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.356872	0.20531	N	0.090505	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999999	P;B;P;B;B	0.37276	0.589;0.435;0.589;0.152;0.152	B;B;B;B;B	0.35770	0.21;0.153;0.153;0.051;0.051	T	0.31364	-0.9946	10	0.46703	T	0.11	-6.1278	18.3398	0.90302	0.0:1.0:0.0:0.0	.	472;1075;1240;1636;1646	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	D	1646;1636;1647;1625;1240;1075;472;423;423	ENSP00000352400:A1646D;ENSP00000396576:A1636D;ENSP00000405014:A1647D;ENSP00000436793:A472D;ENSP00000435364:A423D	ENSP00000352400:A1646D	A	+	2	0	0	NUP214	133063639	133063639	0.072000	0.21174	0.897000	0.35233	0.793000	0.44817	1.713000	0.37951	2.661000	0.90470	0.462000	0.41574	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-20.000000	1	0.170000	NM_005085			112	109		472	462	1		1	1		0	0	101	0		1	9.999901e-01	0	17	0	54	0	112	472
NUP214	8021	broad.mit.edu	37	9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L			P35658	NU214_HUMAN	nucleoporin 214kDa	1735	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)			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)		TTTGGGCAGTCGGCGAGCAGT	0.592			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	8021	T	nucleoporin 214kDa (CAN)				L	L	DEK, SET, ABL1		AML, T-ALL		0				86						c.(5203-5205)tCg>tTg		nucleoporin 214kDa							74.0	69.0	71.0					9																	134074085		2203	4300	6503	SO:0001583	missense	8021	2	121412	32				g.chr9:134074085C>T	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.5204C>T	chr9.hg19:g.134074085C>T	ENSP00000352400:p.Ser1735Leu	0					NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L	p.S1735L			0	0	0	1.941936	P35658	NU214_HUMAN		29	5348	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	1	1	hg19	c.5204C>T	CCDS6940.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302729	0.23736	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.39592	1.45;1.07;1.07;1.07	5.57	3.73	0.42828	5.57	3.73	0.42828	.	0.861453	0.09604	N	0.779888	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48230	0.769;0.801;0.882;0.668;0.907	B;B;B;B;B	0.33295	0.128;0.09;0.128;0.09;0.161	T	0.04191	-1.0970	10	0.51188	T	0.08	0.0048	6.7765	0.23622	0.0:0.6975:0.1453:0.1572	.	561;1164;1329;1725;1735	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1735;1725;1736;1714;1329;1164;561	ENSP00000352400:S1735L;ENSP00000396576:S1725L;ENSP00000405014:S1736L;ENSP00000436793:S561L	ENSP00000352400:S1735L	S	+	2	0	0	NUP214	133063906	133063906	0.738000	0.28186	0.036000	0.18154	0.094000	0.18550	2.484000	0.45242	0.724000	0.32296	0.462000	0.41574	TCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1		2	2	2	0		0	0	92		92	90	1	2.060000	-3.254203	1	0.170000	NM_005085			80	79		384	377	1		1	1		0	0	92	0		1	9.999876e-01	0	23	0	57	0	80	384
NUP214	8021	broad.mit.edu	37	9	134090667	134090667	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000411637.2_Silent_p.S1877S			P35658	NU214_HUMAN	nucleoporin 214kDa	1887	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)			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)		GTTTCTTCAGTGGCCTTGGAG	0.498			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	8021	T	nucleoporin 214kDa (CAN)				L	L	DEK, SET, ABL1		AML, T-ALL		0				86						c.(5659-5661)agT>agC		nucleoporin 214kDa							110.0	110.0	110.0					9																	134090667		2203	4300	6503	SO:0001819	synonymous_variant	8021	0	0					g.chr9:134090667T>C	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.5661T>C	chr9.hg19:g.134090667T>C		0					NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000411637.2_Silent_p.S1877S	p.S1887S			0	0	0	1.941936	P35658	NU214_HUMAN		31	5805	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	1	1	hg19	c.5661T>C	CCDS6940.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1		2	2	2	0		0	0	117		117	113	1	2.060000	-20.000000	1	0.170000	NM_005085			112	110		372	363	1		1	1		0	0	117	0		1	1	0	30	0	77	0	112	372
NUP214	8021	broad.mit.edu	37	9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H			P35658	NU214_HUMAN	nucleoporin 214kDa	2003	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)			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)		TTTACAAGCCCTCTGGGCTCG	0.637			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999940	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.1	9q34.1	8021	T	nucleoporin 214kDa (CAN)				L	L	DEK, SET, ABL1		AML, T-ALL		0				86						c.(6007-6009)cCt>cAt		nucleoporin 214kDa							44.0	48.0	47.0					9																	134103652		2203	4300	6503	SO:0001583	missense	8021	0	0					g.chr9:134103652C>A	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.6008C>A	chr9.hg19:g.134103652C>A	ENSP00000352400:p.Pro2003His	0					NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H	p.P2003H			0	0	0	1.941936	P35658	NU214_HUMAN		33	6152	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	1	1	hg19	c.6008C>A	CCDS6940.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.844751|2.844751	0.51164|0.51164	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	.|T;T;T;T	.|0.60299	.|0.76;0.78;0.77;0.2	5.38|5.38	5.38|5.38	0.77491|0.77491	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.43919	.|D	.|0.000503	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.994;0.996	T|T	0.69837|0.69837	-0.5037|-0.5037	5|10	.|0.66056	.|D	.|0.02	-22.1057|-22.1057	18.1351|18.1351	0.89616|0.89616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;1597;1993;2003	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	I|H	31|2003;1993;2004;1982;1597;1432;829	.|ENSP00000352400:P2003H;ENSP00000396576:P1993H;ENSP00000405014:P2004H;ENSP00000436793:P829H	.|ENSP00000352400:P2003H	L|P	+|+	1|2	0|0	0|0	NUP214|NUP214	133093473|133093473	133093473|133093473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.687000|5.687000	0.68219|0.68219	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CTC|CCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	0	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-2.881506	1	0.170000	NM_005085			44	43		266	262	1		1	1		0	0	55	0		1	9.999999e-01	0	31	0	127	0	44	266
FAM78A	286336	broad.mit.edu	37	9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	82										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)		AAGTCTCCTTCTTGGGGATGG	0.637																																						ENST00000372271.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				9						c.(244-246)aaG>aaT		family with sequence similarity 78, member A							59.0	53.0	55.0					9																	134151321		2203	4300	6503	SO:0001583	missense	286336	0	0					g.chr9:134151321C>A	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.246G>T	chr9.hg19:g.134151321C>A	ENSP00000361345:p.Lys82Asn	0						p.K82N	NM_033387.3	NP_203745.2	0	0	0	1.941936	Q5JUQ0	FA78A_HUMAN		1	613	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	1	1	hg19	c.246G>T	CCDS6941.2	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320578	0.60634	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.426241	0.27673	N	0.018336	T	0.44498	0.1296	N	0.22421	0.69	0.37573	D	0.919492	B	0.21905	0.062	B	0.15870	0.014	T	0.41106	-0.9527	9	0.23891	T	0.37	-26.4836	17.3899	0.87427	0.0:1.0:0.0:0.0	.	82	Q5JUQ0	FA78A_HUMAN	N	82	.	ENSP00000361345:K82N	K	-	3	2	2	FAM78A	133141142	133141142	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.895000	0.39778	2.422000	0.82143	0.561000	0.74099	AAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_033387			46	46		209	202	1		1	1		0	0	53	0		1	9.958145e-01	0	3	0	38	0	46	209
FAM78A	286336	broad.mit.edu	37	9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	37										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)		CACCGTGATCCCTTCCCGGAA	0.582																																						ENST00000372271.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				9						c.(109-111)gGg>gAg		family with sequence similarity 78, member A							96.0	80.0	85.0					9																	134151457		2203	4300	6503	SO:0001583	missense	286336	1	121402	28				g.chr9:134151457C>T	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.110G>A	chr9.hg19:g.134151457C>T	ENSP00000361345:p.Gly37Glu	0						p.G37E	NM_033387.3	NP_203745.2	0	0	0	1.941936	Q5JUQ0	FA78A_HUMAN		1	477	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	1	1	hg19	c.110G>A	CCDS6941.2	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403374	0.83230	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.137041	0.64402	D	0.000004	T	0.34803	0.0910	N	0.08118	0	0.37486	D	0.916183	B	0.25904	0.137	B	0.31191	0.125	T	0.38045	-0.9679	9	0.41790	T	0.15	-26.0808	13.1809	0.59653	0.0:0.8399:0.1601:0.0	.	37	Q5JUQ0	FA78A_HUMAN	E	37	.	ENSP00000361345:G37E	G	-	2	0	0	FAM78A	133141278	133141278	0.992000	0.36948	0.998000	0.56505	0.995000	0.86356	2.985000	0.49362	2.422000	0.82143	0.561000	0.74099	GGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_033387			40	38		175	171	1		1	1		0	0	53	0		1	9.922199e-01	0	4	0	32	0	40	175
MED27	9442	broad.mit.edu	37	9	134955158	134955158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134955158C>T	ENST00000292035.5	-	1	137	c.74G>A	c.(73-75)cGc>cAc	p.R25H	MED27_ENST00000357028.2_Missense_Mutation_p.R25H|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000474263.1_Missense_Mutation_p.R25H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	25					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)			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)		CACGCTGGAGCGCAGCGCCTG	0.602																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5	0.680000	0.190000	5.400000e-01	2.800000e-01	0.390000	0.417729	0.390000	0.380000																										0				18						c.(73-75)cGc>cAc		mediator complex subunit 27							46.0	45.0	45.0					9																	134955158		2203	4300	6503	SO:0001583	missense	9442	0	0					g.chr9:134955158C>T	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.74G>A	chr9.hg19:g.134955158C>T	ENSP00000292035:p.Arg25His	0					MED27_ENST00000474263.1_Missense_Mutation_p.R25H|MED27_ENST00000357028.2_Missense_Mutation_p.R25H|RP11-32B11.2_ENST00000444872.2_RNA	p.R25H	NM_004269.3	NP_004260.2	0	0	0	1.941936	Q6P2C8	MED27_HUMAN		1	137	-		Myeloproliferative disorder(178;0.206)	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	0	1	hg19	c.74G>A	CCDS6945.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.751356	0.96890	.	.	ENSG00000160563	ENST00000292035;ENST00000372184	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.984;0.964	T	0.81344	-0.0975	9	0.66056	D	0.02	-5.2962	18.591	0.91212	0.0:1.0:0.0:0.0	.	25;25;25	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	H	25	.	ENSP00000292035:R25H	R	-	2	0	0	MED27	133944979	133944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.625000	0.88918	0.650000	0.86243	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	0	0	0		2	2	2	0		0	0	45		45	45	1	2.060000	-10.441900	1	0.170000	NM_004269			9	9		257	244	0		1	0		0	0	45	0		9.930158e-01	3.586040e-01	0	0	0	34	0	9	257
NTNG2	84628	broad.mit.edu	37	9	135073361	135073361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P|NTNG2_ENST00000372179.3_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	74	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667																																						ENST00000393229.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(220-222)ccC>ccT		netrin G2							31.0	31.0	31.0					9																	135073361		2203	4300	6503	SO:0001819	synonymous_variant	84628	0	0					g.chr9:135073361C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.222C>T	chr9.hg19:g.135073361C>T		0					NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P	p.P74P	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		3	998	+			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	1	1	hg19	c.222C>T	CCDS6946.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.802473	1	0.170000	NM_032536			52	51		190	186	1		1	0		0	0	59	0		1	3.864466e-01	0	0	0	6	0	52	190
NTNG2	84628	broad.mit.edu	37	9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M|NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	147	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.T147M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642																																						ENST00000393229.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										1	Substitution - Missense(1)	p.T147M(1)	endometrium(1)	29						c.(439-441)aCg>aTg		netrin G2							70.0	53.0	59.0					9																	135073579		2203	4300	6503	SO:0001583	missense	84628	0	0					g.chr9:135073579C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.440C>T	chr9.hg19:g.135073579C>T	ENSP00000376921:p.Thr147Met	0					NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	p.T147M	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		3	1216	+			Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	1	1	hg19	c.440C>T	CCDS6946.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118965	0.77323	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;0.94;0.94;-0.97	5.22	5.22	0.72569	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.062591	0.64402	D	0.000010	D	0.84424	0.5469	L	0.56769	1.78	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.85845	0.1400	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	147	Q96CW9	NTNG2_HUMAN	M	147	ENSP00000376921:T147M;ENSP00000376920:T147M;ENSP00000353888:T147M;ENSP00000361252:T147M	ENSP00000353888:T147M	T	+	2	0	0	NTNG2	134063400	134063400	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.757000	0.62213	2.417000	0.82017	0.561000	0.74099	ACG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_032536			50	49		248	243	1		1	0		0	0	48	0		1	6.254453e-01	0	0	0	12	0	50	248
NTNG2	84628	broad.mit.edu	37	9	135073735	135073735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073735A>G	ENST00000393229.3	+	3	1372	c.596A>G	c.(595-597)tAc>tGc	p.Y199C	NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	199	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCGAGGAGTACTCGCGCTGG	0.667																																						ENST00000393229.3	0.550000	0.120000	4.200000e-01	1.900000e-01	0.290000	0.310546	0.290000	0.270000																										0				29						c.(595-597)tAc>tGc		netrin G2							38.0	31.0	34.0					9																	135073735		2203	4300	6503	SO:0001583	missense	84628	0	0					g.chr9:135073735A>G	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.596A>G	chr9.hg19:g.135073735A>G	ENSP00000376921:p.Tyr199Cys	0					NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C	p.Y199C	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		3	1372	+			Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	0	1	hg19	c.596A>G	CCDS6946.1	0	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493026	0.84962	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.22	5.22	0.72569	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93209	0.6598	10	0.87932	D	0	.	14.2827	0.66224	1.0:0.0:0.0:0.0	.	199	Q96CW9	NTNG2_HUMAN	C	199	ENSP00000376921:Y199C;ENSP00000376920:Y199C;ENSP00000353888:Y199C;ENSP00000361252:Y199C	ENSP00000353888:Y199C	Y	+	2	0	0	NTNG2	134063556	134063556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.957000	0.56846	0.459000	0.35465	TAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	0		2	2	2	0		0	0	41		41	40	1	2.060000	-8.187245	1	0.170000	NM_032536			6	6		244	240	0		1	0		0	0	41	0		9.637266e-01	2.135293e-02	0	0	0	8	0	6	244
NTNG2	84628	broad.mit.edu	37	9	135073905	135073905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L|NTNG2_ENST00000372179.3_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	256	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642																																						ENST00000393229.3	0.620000	0.270000	5.300000e-01	3.400000e-01	0.430000	0.443982	0.430000	0.420000																										0				29						c.(766-768)Ctg>Ttg		netrin G2							41.0	47.0	45.0					9																	135073905		2201	4294	6495	SO:0001819	synonymous_variant	84628	0	0					g.chr9:135073905C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.766C>T	chr9.hg19:g.135073905C>T		0					NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L	p.L256L	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		3	1542	+			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	1	1	hg19	c.766C>T	CCDS6946.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	0		2	2	2	0		0	0	104		104	100	1	2.060000	-19.631870	1	0.170000	NM_032536			22	21		563	555	0		1	0		0	0	104	0		9.999985e-01	4.646467e-03	0	0	0	3	0	22	563
NTNG2	84628	broad.mit.edu	37	9	135102389	135102389	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P|NTNG2_ENST00000372179.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	337	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647																																						ENST00000393229.3	1.000000	0.640000	1	8.400000e-01	0.990000	0.945891	0.990000	1.000000																										0				29						c.(1009-1011)ccC>ccT		netrin G2							26.0	25.0	25.0					9																	135102389		2203	4298	6501	SO:0001819	synonymous_variant	84628	0	0					g.chr9:135102389C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1011C>T	chr9.hg19:g.135102389C>T		0					NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	p.P337P	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		4	1787	+			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	1	1	hg19	c.1011C>T	CCDS6946.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-19.844100	1	0.170000	NM_032536			14	14		130	127	0		1	0		0	0	27	0		9.997728e-01	5.728499e-02	0	0	0	4	0	14	130
NTNG2	84628	broad.mit.edu	37	9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	351					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTTCCTTTGGCAGTAAGTAC	0.632																																						ENST00000393229.3	1.000000	0.800000	1	9.900000e-01	0.990000	0.986626	0.990000	1.000000																										0				29						c.(1051-1053)gGc>gAc		netrin G2							36.0	36.0	36.0					9																	135105980		2202	4298	6500	SO:0001583	missense	84628	0	0					g.chr9:135105980G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1052G>A	chr9.hg19:g.135105980G>A	ENSP00000376921:p.Gly351Asp	0					NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D|NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron	p.G351D	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		5	1828	+			Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	0	1	hg19	c.1052G>A	CCDS6946.1	1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635952	0.67130	.	.	ENSG00000196358	ENST00000393229;ENST00000372179	T;T	0.69806	0.84;-0.43	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	T	0.63581	0.2523	M	0.66939	2.045	0.34114	D	0.663338	B	0.31125	0.309	B	0.26770	0.073	T	0.72154	-0.4376	9	0.37606	T	0.19	.	13.9321	0.64003	0.0:0.0:1.0:0.0	.	351	Q96CW9	NTNG2_HUMAN	D	351	ENSP00000376921:G351D;ENSP00000361252:G351D	ENSP00000361252:G351D	G	+	2	0	0	NTNG2	134095801	134095801	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.180000	0.58296	2.353000	0.79882	0.556000	0.70494	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-18.296090	1	0.170000	NM_032536			10	10		58	56	0		1	0		0	0	9	0		9.972064e-01	1.827342e-01	0	0	0	5	0	10	58
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587																																						ENST00000393229.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				29						c.(1057-1059)tgC>tgT		netrin G2							98.0	82.0	87.0					9																	135114495		2203	4300	6503	SO:0001819	synonymous_variant	84628	1	121412	29				g.chr9:135114495C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1059C>T	chr9.hg19:g.135114495C>T		0					NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	p.C353C	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		6	1835	+			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	1	1	hg19	c.1059C>T	CCDS6946.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-3.223848	1	0.170000	NM_032536			53	53		310	303	1		1	0		0	0	78	0		1	3.925266e-01	0	0	0	9	0	53	310
NTNG2	84628	broad.mit.edu	37	9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	477					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761																																						ENST00000393229.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.994956	0.990000	1.000000																										0				29						c.(1429-1431)tGc>tAc		netrin G2							6.0	6.0	6.0					9																	135117335		1984	3955	5939	SO:0001583	missense	84628	0	0					g.chr9:135117335G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1430G>A	chr9.hg19:g.135117335G>A	ENSP00000376921:p.Cys477Tyr	0					NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y	p.C477Y	NM_032536.2	NP_115925.2	0	0	0	1.941936	Q96CW9	NTNG2_HUMAN		8	2206	+			Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	0	1	hg19	c.1430G>A	CCDS6946.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370429	0.82573	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	D;D;D	0.99837	-7.06;-7.06;-7.06	3.5	3.5	0.40072	3.5	3.5	0.40072	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99906	0.9955	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95924	0.8933	10	0.87932	D	0	.	14.1615	0.65450	0.0:0.0:1.0:0.0	.	477	Q96CW9	NTNG2_HUMAN	Y	477;469;483	ENSP00000376921:C477Y;ENSP00000376920:C469Y;ENSP00000353888:C483Y	ENSP00000353888:C483Y	C	+	2	0	0	NTNG2	134107156	134107156	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.688000	0.91260	1.788000	0.52465	0.491000	0.48974	TGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.761	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.729080	1	0.170000	NM_032536			10	10		42	42	0		1	0		0	0	10	0		9.978324e-01	0	0	0	0	1	0	10	42
SETX	23064	broad.mit.edu	37	9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000224140.5	-	26	8200	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_ENST00000393220.1_Missense_Mutation_p.K2640T|SETX_ENST00000372169.2_Missense_Mutation_p.K2702T|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2673	Necessary for nuclear localization.				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)			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)		AAGCTTTCTTTTCTTGGAACT	0.512																																						ENST00000224140.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(8017-8019)aAa>aCa		senataxin							119.0	126.0	123.0					9																	135139642		2203	4300	6503	SO:0001583	missense	23064	0	0					g.chr9:135139642T>G	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.8018A>C	chr9.hg19:g.135139642T>G	ENSP00000224140:p.Lys2673Thr	0					SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.K2702T|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	p.K2673T	NM_015046.5	NP_055861.3	0	0	0	1.941936	Q7Z333	SETX_HUMAN		26	8200	-		Myeloproliferative disorder(178;0.204)	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	1	1	hg19	c.8018A>C	CCDS6947.1	1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846347	0.71603	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92348	-2.33;-3.02;-2.52;-2.12	5.57	-2.46	0.06461	5.57	-2.46	0.06461	.	3.800430	0.00819	N	0.001576	D	0.91061	0.7187	L	0.32530	0.975	0.18873	N	0.999981	P;P;P	0.41848	0.763;0.651;0.763	P;B;P	0.47346	0.544;0.15;0.544	T	0.82462	-0.0445	10	0.66056	D	0.02	.	13.8209	0.63320	0.0:0.7622:0.0:0.2378	.	2640;2673;2702	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2673;944;2702;2640	ENSP00000224140:K2673T;ENSP00000409143:K944T;ENSP00000361242:K2702T;ENSP00000376913:K2640T	ENSP00000224140:K2673T	K	-	2	0	0	SETX	134129463	134129463	0.018000	0.18449	0.019000	0.16419	0.254000	0.26022	-0.230000	0.09083	-0.377000	0.07930	0.402000	0.26972	AAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1		2	2	2	0		0	0	204		204	202	1	2.060000	-20.000000	1	0.170000	NM_015046			242	239		888	863	1		1	1		0	0	204	0		1	1	0	42	0	122	0	242	888
SETX	23064	broad.mit.edu	37	9	135203375	135203375	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000224140.5	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000393220.1_Silent_p.R1204R|SETX_ENST00000372169.2_Silent_p.R1204R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1204					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)			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)		GTTGAAGTCCTTCTATCAATA	0.403																																						ENST00000224140.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(3610-3612)Agg>Cgg		senataxin							96.0	94.0	95.0					9																	135203375		2203	4300	6503	SO:0001819	synonymous_variant	23064	0	0					g.chr9:135203375T>G	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.3610A>C	chr9.hg19:g.135203375T>G		0					SETX_ENST00000372169.2_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	p.R1204R	NM_015046.5	NP_055861.3	0	0	0	1.941936	Q7Z333	SETX_HUMAN		10	3792	-		Myeloproliferative disorder(178;0.204)	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	1	1	hg19	c.3610A>C	CCDS6947.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_015046			90	89		406	401	1		1	1		0	0	84	0		1	9.999996e-01	0	21	0	76	0	90	406
SETX	23064	broad.mit.edu	37	9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T	rs369264209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000224140.5	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q|SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1164					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)			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)		TTTTTCAGATCGTTTTCTCTT	0.393																																						ENST00000224140.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				97						c.(3490-3492)cGa>cAa		senataxin		C	GLN/ARG	0,4406		0,0,2203	80.0	78.0	79.0		3491	0.5	0.1	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1164/2678	135203494	1,13005	2203	4300	6503	SO:0001583	missense	23064	3	121412	39				g.chr9:135203494C>T	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.3491G>A	chr9.hg19:g.135203494C>T	ENSP00000224140:p.Arg1164Gln	0					SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	p.R1164Q	NM_015046.5	NP_055861.3	0	0	0	1.941936	Q7Z333	SETX_HUMAN		10	3673	-		Myeloproliferative disorder(178;0.204)	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	1	1	hg19	c.3491G>A	CCDS6947.1	1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477901	0.26511	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86164	-1.98;-2.08;-1.69	5.9	0.463	0.16700	5.9	0.463	0.16700	.	2.512000	0.01833	N	0.034818	T	0.75591	0.3870	N	0.19112	0.55	0.21355	N	0.999712	B;B;B	0.24132	0.098;0.033;0.098	B;B;B	0.12837	0.008;0.003;0.008	T	0.60167	-0.7316	10	0.30078	T	0.28	.	1.5037	0.02482	0.1165:0.3087:0.2136:0.3612	.	1164;1164;1164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1164	ENSP00000224140:R1164Q;ENSP00000361242:R1164Q;ENSP00000376913:R1164Q	ENSP00000224140:R1164Q	R	-	2	0	0	SETX	134193315	134193315	0.009000	0.17119	0.148000	0.22405	0.702000	0.40608	0.000000	0.12993	0.070000	0.16634	0.650000	0.86243	CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.319133	1	0.170000	NM_015046			86	84		382	375	1		1	1		0	0	69	0		1	9.999996e-01	0	18	0	77	0	86	382
TTF1	7270	broad.mit.edu	37	9	135277105	135277105	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	368					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)			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)		CTTCCACAGTCCCAACCTCAC	0.483																																						ENST00000334270.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1102-1104)ggG>ggA		transcription termination factor, RNA polymerase I							181.0	156.0	164.0					9																	135277105		2203	4300	6503	SO:0001819	synonymous_variant	7270	0	0					g.chr9:135277105C>T	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.1104G>A	chr9.hg19:g.135277105C>T		0						p.G368G	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	0	0	0	1.941936	Q15361	TTF1_HUMAN		2	1143	-		Myeloproliferative disorder(178;0.204)	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	1	1	hg19	c.1104G>A	CCDS6948.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	1	0	0		2	2	2	0		0	0	134		134	132	1	2.060000	-20.000000	1	0.170000	NM_007344			144	143		659	645	1		1	1		0	0	134	0		1	9.997274e-01	0	17	0	39	0	144	659
TTF1	7270	broad.mit.edu	37	9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	341					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)			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)		CAAATTCCTGGTGATTGGACT	0.507																																						ENST00000334270.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1021-1023)caC>caA		transcription termination factor, RNA polymerase I							110.0	110.0	110.0					9																	135277186		2203	4300	6503	SO:0001583	missense	7270	0	0					g.chr9:135277186G>T	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.1023C>A	chr9.hg19:g.135277186G>T	ENSP00000333920:p.His341Gln	0						p.H341Q	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	0	0	0	1.941936	Q15361	TTF1_HUMAN		2	1062	-		Myeloproliferative disorder(178;0.204)	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	1	1	hg19	c.1023C>A	CCDS6948.1	1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219808	0.09863	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	3.1	2.06	0.26882	3.1	2.06	0.26882	.	1.752520	0.02938	N	0.140098	T	0.09024	0.0223	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31752	-0.9932	10	0.15066	T	0.55	.	6.7339	0.23399	0.0:0.0:0.7202:0.2798	.	341	Q15361	TTF1_HUMAN	Q	341	ENSP00000333920:H341Q	ENSP00000245588:H341Q	H	-	3	2	2	TTF1	134267007	134267007	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.228000	0.17814	1.415000	0.47037	0.313000	0.20887	CAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	1	0	0		2	2	2	0		0	0	134		134	131	1	2.060000	-20.000000	1	0.170000	NM_007344			132	127		738	716	1		1	1		0	0	134	0		1	9.814805e-01	0	8	0	29	0	132	738
C9orf171	389799	broad.mit.edu	37	9	135374874	135374874	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000343036.2	+	4	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_ENST00000393215.3_Silent_p.E137E|C9orf171_ENST00000393216.2_Silent_p.E137E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592																																						ENST00000343036.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(517-519)gaG>gaA		chromosome 9 open reading frame 171							86.0	87.0	86.0					9																	135374874		2203	4300	6503	SO:0001819	synonymous_variant	389799	0	0					g.chr9:135374874G>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.519G>A	chr9.hg19:g.135374874G>A		0					C9orf171_ENST00000393215.3_Silent_p.E137E|C9orf171_ENST00000393216.2_Silent_p.E137E	p.E173E	NM_207417.1	NP_997300.1	0	0	0	1.941936	Q6ZQR2	CI171_HUMAN		4	567	+			Q147X1	Silent	SNP	ENST00000343036.2	1	1	hg19	c.519G>A	CCDS6949.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-20.000000	1	0.170000	NM_207417			114	114		553	539	1		1			0	0	158	0		1	0	0	0	0	0	0	114	553
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					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.?(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)		GAATTCCTCTCGGTCATGCTG	0.527			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298552.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec		Tuberous sclerosis 1	yes	Rec		Tuberous sclerosis 1	9	9q34	9q34	7248	D, Mis, N, F, S	tuberous sclerosis 1 gene				"""E, O"""	E, O		hamartoma, renal cell			1	Unknown(1)	p.?(1)	bone(1)	65						c.(2356-2358)cGa>cAa		tuberous sclerosis 1							238.0	211.0	220.0					9																	135778026		2203	4300	6503	SO:0001583	missense	7248	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr9:135778026C>T	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.2357G>A	chr9.hg19:g.135778026C>T	ENSP00000298552:p.Arg786Gln	0		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q	p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	0	0	0	1.941936	Q92574	TSC1_HUMAN		18	2578	-			B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	1	1	hg19	c.2357G>A	CCDS6956.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	0	TSC1	134767847	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1	1	0	1		2	2	2	0		0	0	164		164	164	1	2.060000	-3.960313	1	0.170000				162	162		593	585	1		1	1		0	0	164	0		1	9.911607e-01	0	5	0	24	0	162	593
GFI1B	8328	broad.mit.edu	37	9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	151	Interaction with ARIH2.				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)			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)		CCGCCTTGGACTTCAGCCTCC	0.657																																						ENST00000339463.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000																										0				21						c.(451-453)gaC>gaA		growth factor independent 1B transcription repressor							65.0	50.0	55.0					9																	135863798		2203	4300	6503	SO:0001583	missense	8328	0	0					g.chr9:135863798C>A	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.453C>A	chr9.hg19:g.135863798C>A	ENSP00000344782:p.Asp151Glu	0					GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E	p.D151E			0	0	0	1.941936	Q5VTD9	GFI1B_HUMAN		8	1272	+			O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	1	1	hg19	c.453C>A	CCDS6957.1	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914611	0.72983	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09163	3.15;3.01;3.01;3.15;3.15;3.01	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.055638	0.64402	D	0.000001	T	0.18923	0.0454	L	0.45698	1.435	0.48341	D	0.999639	D;P	0.54772	0.968;0.907	P;P	0.58970	0.849;0.663	T	0.00500	-1.1703	10	0.52906	T	0.07	-38.8123	7.2867	0.26344	0.0:0.8095:0.0:0.1905	.	151;151	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	E	151	ENSP00000361197:D151E;ENSP00000344782:D151E;ENSP00000409546:D151E;ENSP00000446134:D151E;ENSP00000361196:D151E;ENSP00000361195:D151E	ENSP00000344782:D151E	D	+	3	2	2	GFI1B	134853619	134853619	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.819000	0.48049	2.276000	0.75962	0.563000	0.77884	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-20.000000	1	0.170000	NM_004188			40	38		200	192	1		1	0		0	0	52	0		1	2.928273e-02	0	1	0	1	0	40	200
GFI1B	8328	broad.mit.edu	37	9	135866287	135866287	+	Silent	SNP	C	C	T	rs190810570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135866287C>T	ENST00000339463.3	+	11	1662	c.843C>T	c.(841-843)tgC>tgT	p.C281C	GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	281	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)			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)		GCCAGGTGTGCGGAAAGGCCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0					ENST00000339463.3	0.460000	0.090000	3.500000e-01	1.500000e-01	0.240000	0.259310	0.240000	0.220000																										0				21						c.(841-843)tgC>tgT		growth factor independent 1B transcription repressor							85.0	72.0	76.0					9																	135866287		2203	4300	6503	SO:0001819	synonymous_variant	8328	7	121412	39				g.chr9:135866287C>T	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.843C>T	chr9.hg19:g.135866287C>T		0					GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372123.1_Silent_p.C235C	p.C281C			0	0	0	1.941936	Q5VTD9	GFI1B_HUMAN		11	1662	+			O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	0	1	hg19	c.843C>T	CCDS6957.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-3.171994	1	0.170000	NM_004188			6	6		295	294	0		1	0		0	0	64	0		9.650295e-01	0	0	0	0	1	0	6	295
CEL	1056	broad.mit.edu	37	9	135942552	135942552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	285				RALTL -> AAVTV (in Ref. 5; AAB35488). {ECO:0000305}.	cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCCCCGAGCCCTGACGCTGG	0.652																																						ENST00000372080.4	1.000000	0.530000	1	7.000000e-01	0.910000	0.875228	0.910000	1.000000																										0				20						c.(862-864)gcC>gcT		carboxyl ester lipase							35.0	39.0	37.0					9																	135942552		2075	4201	6276	SO:0001819	synonymous_variant	1056	0	0					g.chr9:135942552C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.864C>T	chr9.hg19:g.135942552C>T		0					CEL_ENST00000351304.7_Silent_p.A285A	p.A288A	NM_001807.3	NP_001798.2	0	0	0	1.941936	P19835	CEL_HUMAN		7	880	+			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	0	1	hg19	c.864C>T	CCDS43896.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-19.236250	1	0.170000				14	14		160	154	0		1	0		0	0	23	0		9.997360e-01	1	0	0	0	499	0	14	160
RALGDS	5900	broad.mit.edu	37	9	135977147	135977147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135977147G>T	ENST00000372050.3	-	16	2235	c.2214C>A	c.(2212-2214)ttC>ttA	p.F738L	RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000393160.3_Missense_Mutation_p.F683L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	738					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGATTCCCAGAACTGAGGGA	0.627			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000372050.3	1.000000	0.580000	1	8.200000e-01	0.990000	0.937177	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator				L	L	CIITA		PMBL, Hodgkin Lymphona, 		0				10						c.(2212-2214)ttC>ttA		ral guanine nucleotide dissociation stimulator							41.0	39.0	39.0					9																	135977147		2198	4297	6495	SO:0001583	missense	5900	0	0					g.chr9:135977147G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2214C>A	chr9.hg19:g.135977147G>T	ENSP00000361120:p.Phe738Leu	0					RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000393160.3_Missense_Mutation_p.F683L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L	p.F738L	NM_006266.2	NP_006257.1	0	0	0	1.941936	Q12967	GNDS_HUMAN		16	2235	-			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	0	1	hg19	c.2214C>A	CCDS6959.1	1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070758	0.07228	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.34072	1.89;1.39;1.89;1.85;2.05;1.38;2.31	5.12	3.26	0.37387	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	N	0.20328	0.56	0.51482	D	0.999924	B;B;B;B;B;B;B	0.28605	0.037;0.087;0.217;0.145;0.041;0.087;0.087	B;B;B;B;B;B;B	0.28011	0.024;0.085;0.085;0.048;0.026;0.085;0.085	T	0.08027	-1.0742	10	0.02654	T	1	.	10.0178	0.42024	0.0758:0.1385:0.7857:0.0	.	809;709;726;683;737;726;738	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	L	738;726;683;435;737;809;709;298	ENSP00000361120:F738L;ENSP00000361117:F726L;ENSP00000376867:F683L;ENSP00000376864:F737L;ENSP00000437518:F809L;ENSP00000361132:F709L;ENSP00000391814:F298L	ENSP00000361117:F726L	F	-	3	2	2	RALGDS	134966968	134966968	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	5.214000	0.65236	0.652000	0.30806	0.462000	0.41574	TTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	0	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-15.390750	1	0.170000	NM_006266			9	9		79	76	0		1	1		0	0	21	0		9.941632e-01	9.997443e-01	0	12	0	140	0	9	79
GBGT1	26301	broad.mit.edu	37	9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000372040.3	-	6	666	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	119					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACTTCCCCACGGCAAAC	0.592																																						ENST00000372040.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997656	0.990000	1.000000																										0				10						c.(355-357)Ggg>Agg		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							98.0	88.0	91.0					9																	136030569		2203	4300	6503	SO:0001583	missense	26301	0	0					g.chr9:136030569C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.355G>A	chr9.hg19:g.136030569C>T	ENSP00000361110:p.Gly119Arg	0					GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	p.G119R	NM_001282629.1	NP_001269558.1	0	0	0	1.941936	Q8N5D6	GBGT1_HUMAN		6	666	-			A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	1	1	hg19	c.355G>A	CCDS6960.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485858|2.485858	0.44147|0.44147	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.42131|0.02579	1.87;0.98|4.96;4.24;4.24	4.98|4.98	4.09|4.09	0.47781|0.47781	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.05731|0.05731	0.0150|0.0150	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999996|0.999996	B|P;P	0.17667|0.42357	0.023|0.777;0.777	B|B;B	0.17433|0.42738	0.018|0.396;0.396	T|T	0.22452|0.22452	-1.0216|-1.0216	10|10	0.87932|0.51188	D|T	0|0.08	.|.	8.9244|8.9244	0.35632|0.35632	0.0:0.8303:0.0:0.1697|0.0:0.8303:0.0:0.1697	.|.	131|102;119	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	E|R	131|119;119;102	ENSP00000437518:G131E;ENSP00000361108:G131E|ENSP00000361113:G119R;ENSP00000361110:G119R;ENSP00000437663:G102R	ENSP00000361108:G131E|ENSP00000361110:G119R	G|G	-|-	2|1	0|0	0|0	GBGT1;RALGDS|GBGT1	135020390|135020390	135020390|135020390	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.084000|0.084000	0.17831|0.17831	4.413000|4.413000	0.59795|0.59795	1.085000|1.085000	0.41206|0.41206	-0.258000|-0.258000	0.10820|0.10820	GGG|GGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	0	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-2.697241	1	0.170000	NM_021996			23	23		148	145	0		1	0		0	0	42	0		9.999995e-01	9.738132e-01	0	0	0	41	0	23	148
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	ENST00000453660.2	-	0	317				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552																																						ENST00000453660.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							132.0	148.0	143.0					9																	136132863		2140	4251	6391			28	2	121130	33				g.chr9:136132863C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		chr9.hg19:g.136132863C>T		0					RP11-430N14.4_ENST00000606717.1_RNA				0	0	0	1.941936	P16442	BGAT_HUMAN		0	317	-			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	1	1	hg19			1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-3.050556	1	0.170000	NM_020469			51	51		256	252	0		1	1		0	0	52	0		1	9.411801e-01	0	6	0	20	0	51	256
MED22	6837	broad.mit.edu	37	9	136208442	136208442	+	Silent	SNP	C	C	T	rs78711238	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208442C>T	ENST00000491289.1	-	5	1097	c.516G>A	c.(514-516)gcG>gcA	p.A172A	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000343730.5_Silent_p.A172A|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	172						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCTCCGGGGACGCCAGCAGAG	0.677													C|||	37	0.00738818	0.0038	0.0043	5008	,	,		15768	0.0		0.0258	False		,,,				2504	0.0031					ENST00000491289.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999937	0.990000	1.000000																										0				4						c.(514-516)gcG>gcA		mediator complex subunit 22		C	,	25,4381	31.7+/-61.6	0,25,2178	32.0	35.0	34.0		516,	-5.3	0.4	9	dbSNP_133	34	122,8478	62.1+/-124.0	1,120,4179	no	coding-synonymous,utr-3	MED22	NM_133640.3,NM_181491.1	,	1,145,6357	TT,TC,CC		1.4186,0.5674,1.1302	,	172/201,	136208442	147,12859	2203	4300	6503	SO:0001819	synonymous_variant	6837	1414	121408	59				g.chr9:136208442C>T		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.516G>A	chr9.hg19:g.136208442C>T		0					MED22_ENST00000471524.1_5'Flank|MED22_ENST00000343730.5_Silent_p.A172A|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR	p.A172A			0	0	0	1.941936	Q15528	MED22_HUMAN		5	1097	-			B3KW83|B3KWX4|O76072|Q5T8U0	Silent	SNP	ENST00000491289.1	1	0	hg19	c.516G>A	CCDS6963.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	0	0	0		2	2	2	0		0	0	34		34	34	1	2.060000	-2.073168	0	0.170000	NM_133640			27	27		122	121	1		1	1		0	0	34	0		1	9.999311e-01	0	15	0	58	0	27	122
MED22	6837	broad.mit.edu	37	9	136208494	136208494	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208494C>A	ENST00000491289.1	-	5	1045	c.464G>T	c.(463-465)aGg>aTg	p.R155M	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	155						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GAGGTCCAGCCTCCCGTAAGC	0.637																																						ENST00000491289.1	0.690000	0.150000	5.200000e-01	2.400000e-01	0.360000	0.388817	0.360000	0.340000																										0				4						c.(463-465)aGg>aTg		mediator complex subunit 22							55.0	56.0	56.0					9																	136208494		2203	4300	6503	SO:0001583	missense	6837	0	0					g.chr9:136208494C>A		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.464G>T	chr9.hg19:g.136208494C>A	ENSP00000420393:p.Arg155Met	0					MED22_ENST00000471524.1_5'Flank|MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR	p.R155M			0	0	0	1.941936	Q15528	MED22_HUMAN		5	1045	-			B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	0	1	hg19	c.464G>T	CCDS6963.1	0	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137971	0.77775	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.402007	0.27464	N	0.019259	T	0.50137	0.1598	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.50231	0.635	T	0.56469	-0.7974	9	0.87932	D	0	-8.2001	14.6524	0.68808	0.0:1.0:0.0:0.0	.	155	Q15528	MED22_HUMAN	M	155	.	ENSP00000342343:R155M	R	-	2	0	0	MED22	135198315	135198315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.500000	0.53318	2.355000	0.79922	0.563000	0.77884	AGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	0	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-8.175482	1	0.170000	NM_133640			6	6		192	187	0		1	1		0	0	40	0		9.628365e-01	7.422432e-01	0	4	0	80	0	6	192
RPL7A	6130	broad.mit.edu	37	9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SNORD36B_ENST00000363961.1_RNA|SURF1_ENST00000495952.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|RPL7A_ENST00000463740.1_3'UTR|SNORD36C_ENST00000516733.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|SNORD24_ENST00000383884.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	261					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)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418																																						ENST00000323345.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				7						c.(781-783)Ctt>Ttt		ribosomal protein L7a							39.0	39.0	39.0					9																	136218201		2203	4296	6499	SO:0001583	missense	6130	0	0					g.chr9:136218201C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.781C>T	chr9.hg19:g.136218201C>T	ENSP00000361076:p.Leu261Phe	0					RPL7A_ENST00000463740.1_3'UTR|SNORD36A_ENST00000362874.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|SNORD36B_ENST00000363961.1_RNA	p.L261F	NM_000972.2	NP_000963.1	0	0	0	1.941936	P62424	RL7A_HUMAN		8	811	+			P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	0	1	hg19	c.781C>T	CCDS6965.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351939	0.41700	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.66638	0.33;-0.22	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.87097	2.86	0.80722	D	1	B	0.33280	0.405	B	0.36289	0.221	T	0.78445	-0.2201	10	0.62326	D	0.03	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	261	P62424	RL7A_HUMAN	F	261;146	ENSP00000361076:L261F;ENSP00000361071:L146F	ENSP00000361071:L146F	L	+	1	0	0	RPL7A	135208022	135208022	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	7.166000	0.77553	2.400000	0.81607	0.561000	0.74099	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	1	0	1		2	2	2	0		0	0	30		30	32	1	2.060000	-20.000000	1	0.170000	NM_000972			27	25		106	103	1		1	1		0	0	30	0		1	1	0	1424	0	3087	0	27	106
SURF4	6836	broad.mit.edu	37	9	136231830	136231830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	ENST00000371989.3	-	5	558	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.A143A	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	143					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGGGGACGCCCGCAAACATGC	0.577																																						ENST00000371989.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999672	0.990000	1.000000																										0				8						c.(427-429)gcG>gcA		surfeit 4							68.0	55.0	59.0					9																	136231830		2203	4300	6503	SO:0001819	synonymous_variant	6836	11	121406	36				g.chr9:136231830C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.429G>A	chr9.hg19:g.136231830C>T		0					SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.A143A	p.A143A	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	0	0	0	1.941936	O15260	SURF4_HUMAN		5	558	-			B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	0	1	hg19	c.429G>A	CCDS6968.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.635029	1	0.170000	NM_033161			20	19		88	83	0		1	1		0	0	27	0		9.999959e-01	1	0	190	0	560	0	20	88
STKLD1	169436	broad.mit.edu	37	9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|SURF4_ENST00000371989.3_5'Flank|SURF4_ENST00000485435.2_5'Flank	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTGGAGGAAATGGAAA	0.498																																						ENST00000371957.3	0.780000	0.220000	6.200000e-01	3.200000e-01	0.450000	0.480738	0.450000	0.440000																										0				25						c.(136-138)gaG>gaT									124.0	102.0	110.0					9																	136245957		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr9:136245957G>T																												ENST00000371957.3:c.138G>T	chr9.hg19:g.136245957G>T	ENSP00000361025:p.Glu46Asp	0					C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000468046.1_3'UTR|SURF4_ENST00000371989.3_5'Flank|SURF4_ENST00000485435.2_5'Flank	p.E46D	NM_153710.3	NP_714921.4	0	0	0	1.941936	Q8NE28	STKL1_HUMAN		2	245	+			Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	1	1	hg19	c.138G>T	CCDS35169.1	0	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248659	0.39797	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.19938	2.11;2.11	3.89	-1.63	0.08345	3.89	-1.63	0.08345	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129615	0.31697	U	0.007216	T	0.24236	0.0587	L	0.58669	1.825	0.35834	D	0.825527	D	0.54601	0.967	P	0.50860	0.652	T	0.15009	-1.0452	10	0.48119	T	0.1	-16.8237	7.7812	0.29066	0.5057:0.0:0.4943:0.0	.	46	Q8NE28	SGK71_HUMAN	D	46	ENSP00000398807:E46D;ENSP00000361025:E46D	ENSP00000361025:E46D	E	+	3	2	2	C9orf96	135235778	135235778	0.013000	0.17824	0.249000	0.24280	0.516000	0.34256	0.394000	0.20834	-0.571000	0.06014	-0.657000	0.03884	GAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1	0	0	1		2	2	2	0		0	0	47		47	45	1	2.060000	-3.151127	1	0.170000				9	9		221	210	0		1	0		0	0	47	0		9.931064e-01	5.896070e-03	0	0	0	3	0	9	221
STKLD1	169436	broad.mit.edu	37	9	136260729	136260729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCGTGCAGGGCACAGAAGCCA	0.567																																						ENST00000371957.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999879	0.990000	1.000000																										0				25						c.(703-705)ggC>ggT									59.0	59.0	59.0					9																	136260729		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr9:136260729C>T																												ENST00000371957.3:c.705C>T	chr9.hg19:g.136260729C>T		0					C9orf96_ENST00000371955.1_5'UTR	p.G235G	NM_153710.3	NP_714921.4	0	0	0	1.941936	Q8NE28	STKL1_HUMAN		9	812	+			Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	1	1	hg19	c.705C>T	CCDS35169.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000				35	35		201	195	0		1	0		0	0	56	0		1	6.283534e-02	0	0	0	3	0	35	201
SLC2A6	11182	broad.mit.edu	37	9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	496					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617																																						ENST00000371899.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1486-1488)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 6							110.0	96.0	101.0					9																	136337180		2203	4300	6503	SO:0001583	missense	11182	0	0					g.chr9:136337180G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1487C>T	chr9.hg19:g.136337180G>A	ENSP00000360966:p.Ser496Phe	0					SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F	p.S496F	NM_017585.3	NP_060055.2	0	0	0	1.941936	Q9UGQ3	GTR6_HUMAN		10	1564	-			A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	1	1	hg19	c.1487C>T	CCDS6975.1	1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851904	0.32699	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;T	0.81739	-1.53;-0.85	4.78	3.86	0.44501	4.78	3.86	0.44501	.	0.481200	0.23666	N	0.045766	D	0.82346	0.5017	L	0.42632	1.34	0.26555	N	0.973838	P;P	0.50819	0.874;0.939	P;P	0.55455	0.568;0.776	T	0.75918	-0.3148	10	0.51188	T	0.08	.	14.0612	0.64802	0.0:0.152:0.848:0.0	.	434;496	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	F	434;496	ENSP00000360964:S434F;ENSP00000360966:S496F	ENSP00000360964:S434F	S	-	2	0	0	SLC2A6	135327001	135327001	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	3.358000	0.52284	1.222000	0.43521	0.650000	0.86243	TCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-20.000000	1	0.170000	NM_017585			79	78		278	276	1		1	1		0	0	71	0		1	9.999970e-01	0	25	0	43	0	79	278
SLC2A6	11182	broad.mit.edu	37	9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657																																						ENST00000371899.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1375-1377)Ttc>Gtc		solute carrier family 2 (facilitated glucose transporter), member 6							68.0	73.0	72.0					9																	136337292		2203	4300	6503	SO:0001583	missense	11182	0	0					g.chr9:136337292A>C	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1375T>G	chr9.hg19:g.136337292A>C	ENSP00000360966:p.Phe459Val	0					SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V	p.F459V	NM_017585.3	NP_060055.2	0	0	0	1.941936	Q9UGQ3	GTR6_HUMAN		10	1452	-			A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	1	1	hg19	c.1375T>G	CCDS6975.1	1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478881	0.26511	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73363	0.24;-0.74	5.3	4.12	0.48240	5.3	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118466	0.64402	N	0.000014	T	0.66096	0.2755	L	0.35593	1.075	0.36309	D	0.857513	P;P	0.52316	0.952;0.574	P;B	0.49085	0.6;0.255	T	0.67300	-0.5705	10	0.32370	T	0.25	.	6.2843	0.21025	0.7573:0.1619:0.0808:0.0	.	397;459	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	397;459	ENSP00000360964:F397V;ENSP00000360966:F459V	ENSP00000360964:F397V	F	-	1	0	0	SLC2A6	135327113	135327113	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	3.332000	0.52083	0.826000	0.34661	0.529000	0.55759	TTC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_017585			70	70		252	249	1		1	1		0	0	61	0		1	9.999049e-01	0	21	0	31	0	70	252
TMEM8C	389827	broad.mit.edu	37	9	136385362	136385362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136385362G>A	ENST00000339996.3	-	2	285	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	62					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATGTCGTGACGCATGAAGCAC	0.587																																						ENST00000339996.3	0.750000	0.260000	6.200000e-01	3.600000e-01	0.470000	0.494577	0.470000	0.460000																										0				8						c.(184-186)Cgt>Tgt		transmembrane protein 8C							134.0	107.0	116.0					9																	136385362		2203	4300	6503	SO:0001583	missense	389827	1	121412	34				g.chr9:136385362G>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.184C>T	chr9.hg19:g.136385362G>A	ENSP00000419712:p.Arg62Cys	0					TMEM8C_ENST00000413714.1_5'UTR	p.R62C	NM_001080483.2	NP_001073952.1	0	0	0	1.941936	A6NI61	TMM8C_HUMAN		2	285	-				Missense_Mutation	SNP	ENST00000339996.3	1	1	hg19	c.184C>T	CCDS35170.1	0	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620717	0.46736	.	.	ENSG00000187616	ENST00000339996	T	0.46819	0.86	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.147714	0.38326	N	0.001730	T	0.60301	0.2258	L	0.56769	1.78	0.41486	D	0.988199	D	0.76494	0.999	P	0.57846	0.828	T	0.64859	-0.6308	10	0.66056	D	0.02	-14.4596	15.3445	0.74324	0.0:0.0:1.0:0.0	.	62	A6NI61	TMM8C_HUMAN	C	62	ENSP00000419712:R62C	ENSP00000419712:R62C	R	-	1	0	0	TMEM8C	135375183	135375183	1.000000	0.71417	0.428000	0.26697	0.117000	0.20001	4.457000	0.60088	2.291000	0.77112	0.456000	0.33151	CGT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	0	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.258556	1	0.170000	NM_001080483			13	13		303	296	0		1			0	0	71	0		9.994910e-01	0	0	0	0	0	0	13	303
SARDH	1757	broad.mit.edu	37	9	136531866	136531866	+	Silent	SNP	G	G	A	rs201450596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	ENST00000371872.4	-	20	2879	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_ENST00000439388.1_Silent_p.S874S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000371868.1_Silent_p.S324S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	874					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			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)		CCGGCCCACCGCTGGGGTCAT	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16223	0.0		0.002	False		,,,				2504	0.0					ENST00000371872.4	1.000000	0.690000	1	9.900000e-01	0.990000	0.973740	0.990000	1.000000																										0				44						c.(2620-2622)agC>agT		sarcosine dehydrogenase							70.0	50.0	57.0					9																	136531866		2194	4294	6488	SO:0001819	synonymous_variant	1757	1	120840	34				g.chr9:136531866G>A		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.2622C>T	chr9.hg19:g.136531866G>A		0					SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000439388.1_Silent_p.S874S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Silent_p.S324S	p.S874S	NM_007101.3	NP_009032.2	0	0	0	1.941936	Q9UL12	SARDH_HUMAN		20	2879	-			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	0	1	hg19	c.2622C>T	CCDS6978.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-14.175130	1	0.170000				7	6		40	39	1		1	0		0	0	9	0		9.806019e-01	5.802452e-01	0	0	0	12	0	7	40
SARDH	1757	broad.mit.edu	37	9	136561447	136561447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136561447C>T	ENST00000371872.4	-	14	1962	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	SARDH_ENST00000439388.1_Missense_Mutation_p.A569T|SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000371868.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	569					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			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)		TCAAACACAGCGGCGGCCCCT	0.592																																						ENST00000371872.4	0.430000	0.120000	3.400000e-01	1.700000e-01	0.240000	0.263153	0.240000	0.240000																										0				44						c.(1705-1707)Gct>Act		sarcosine dehydrogenase							80.0	75.0	77.0					9																	136561447		2203	4300	6503	SO:0001583	missense	1757	1	121412	28				g.chr9:136561447C>T		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.1705G>A	chr9.hg19:g.136561447C>T	ENSP00000360938:p.Ala569Thr	0					SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T|SARDH_ENST00000371868.1_5'UTR	p.A569T	NM_007101.3	NP_009032.2	0	0	0	1.941936	Q9UL12	SARDH_HUMAN		14	1962	-			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	0	1	hg19	c.1705G>A	CCDS6978.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.319000	0.95682	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.84873	-1.91;-1.91;-1.91	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.80422	2.495	0.80722	D	1	D	0.62365	0.991	P	0.58520	0.84	D	0.91965	0.5582	10	0.52906	T	0.07	-14.4574	18.4371	0.90650	0.0:1.0:0.0:0.0	.	569	Q9UL12	SARDH_HUMAN	T	569;569;401;569	ENSP00000360938:A569T;ENSP00000403084:A569T;ENSP00000415537:A401T	ENSP00000360938:A569T	A	-	1	0	0	SARDH	135551268	135551268	1.000000	0.71417	0.094000	0.20943	0.832000	0.47134	4.809000	0.62591	2.410000	0.81850	0.655000	0.94253	GCT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	0	0	1		2	2	2	0		0	0	115		115	111	1	2.060000	-2.797848	1	0.170000				9	9		418	406	0		1	0		0	0	115	0		9.935409e-01	2.304852e-02	0	0	0	10	0	9	418
SARDH	1757	broad.mit.edu	37	9	136573457	136573457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000439388.1_Silent_p.H474H|SARDH_ENST00000422262.2_Silent_p.H306H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	474					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			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)		GCGGCTCATCGTGGGGGAAGA	0.662																																						ENST00000371872.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				44						c.(1420-1422)caC>caT		sarcosine dehydrogenase							93.0	93.0	93.0					9																	136573457		2203	4300	6503	SO:0001819	synonymous_variant	1757	1	121410	30				g.chr9:136573457G>A		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.1422C>T	chr9.hg19:g.136573457G>A		0					SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	p.H474H	NM_007101.3	NP_009032.2	0	0	0	1.941936	Q9UL12	SARDH_HUMAN		11	1679	-			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	1	1	hg19	c.1422C>T	CCDS6978.1	1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803202	0.16397	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	0.649	0.17806	5.16	0.649	0.17806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-39.7047	9.7065	0.40218	0.4372:0.0:0.5628:0.0	.	.	.	.	X	474	.	ENSP00000441529:R474X	R	-	1	2	2	SARDH	135563278	135563278	0.907000	0.30839	1.000000	0.80357	0.714000	0.41099	0.095000	0.15127	0.201000	0.20466	-0.251000	0.11542	CGA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1		2	2	2	0		0	0	104		104	104	1	2.060000	-20.000000	1	0.170000				77	77		500	488	1		1	0		0	0	104	0		1	1.888462e-01	0	0	0	6	0	77	500
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	G	A	rs200130370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	301					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			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)		GAATCCCCTCGATGCGCTCGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18860	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(901-903)atC>atT		sarcosine dehydrogenase							98.0	82.0	87.0					9																	136594899		2203	4300	6503	SO:0001819	synonymous_variant	1757	2	121410	28				g.chr9:136594899G>A		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.903C>T	chr9.hg19:g.136594899G>A		0					SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000371867.1_Silent_p.I212I	p.I301I	NM_007101.3	NP_009032.2	0	0	0	1.941936	Q9UL12	SARDH_HUMAN		6	1160	-			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	1	1	hg19	c.903C>T	CCDS6978.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000				67	66		269	263	1		1	0		0	0	76	0		1	3.475219e-01	0	0	0	6	0	67	269
BRD3	8019	broad.mit.edu	37	9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	597	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(1789-1791)cAc>cGc		bromodomain containing 3							80.0	77.0	78.0					9																	136901300		2203	4300	6503	SO:0001583	missense	8019	0	0					g.chr9:136901300T>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1790A>G	chr9.hg19:g.136901300T>C	ENSP00000305918:p.His597Arg	0					BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	p.H597R	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		10	1975	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	1	1	hg19	c.1790A>G	CCDS6980.1	1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771699	0.69992	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.15372	2.43	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.21921	0.0528	L	0.59967	1.855	0.80722	D	1	B	0.25441	0.126	B	0.31101	0.124	T	0.02398	-1.1165	10	0.46703	T	0.11	-18.4594	14.1802	0.65568	0.0:0.0:0.0:1.0	.	597	Q15059	BRD3_HUMAN	R	597;276	ENSP00000305918:H597R	ENSP00000305918:H597R	H	-	2	0	0	BRD3	135891121	135891121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.055000	0.71103	1.946000	0.56461	0.402000	0.26972	CAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_007371			66	66		346	336	1		1	1		0	0	68	0		1	9.999972e-01	0	16	0	83	0	66	346
BRD3	8019	broad.mit.edu	37	9	136907020	136907020	+	Silent	SNP	C	C	T	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.P423P|BRD3_ENST00000371834.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	423					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999919	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(1267-1269)ccG>ccA		bromodomain containing 3		C		0,4406		0,0,2203	25.0	28.0	27.0		1269	-3.8	0.0	9	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		423/727	136907020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019	2	121342	29				g.chr9:136907020C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1269G>A	chr9.hg19:g.136907020C>T		0					BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.P423P|BRD3_ENST00000371834.2_Silent_p.P423P	p.P423P	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		8	1454	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	1	1	hg19	c.1269G>A	CCDS6980.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-16.536240	1	0.170000	NM_007371			25	25		109	106	1		1	1		0	0	21	0		9.999999e-01	9.967256e-01	0	12	0	31	0	25	109
BRD3	8019	broad.mit.edu	37	9	136913346	136913346	+	Silent	SNP	G	G	A	rs200782945		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000357885.2_Silent_p.C315C|BRD3_ENST00000371834.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	315					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7	1.000000	0.970000	1	9.900000e-01	0.990000	0.997395	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(943-945)tgC>tgT		bromodomain containing 3		G		0,4406		0,0,2203	85.0	61.0	69.0		945	-4.3	1.0	9		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/727	136913346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019	1	121334	30				g.chr9:136913346G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.945C>T	chr9.hg19:g.136913346G>A		0					BRD3_ENST00000357885.2_Silent_p.C315C|BRD3_ENST00000371834.2_Silent_p.C315C	p.C315C	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		6	1130	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	1	1	hg19	c.945C>T	CCDS6980.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_007371			23	23		150	147	1		1	1		0	0	30	0		9.999995e-01	9.974588e-01	0	9	0	56	0	23	150
BRD3	8019	broad.mit.edu	37	9	136913496	136913496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	ENST00000303407.7	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_ENST00000357885.2_Silent_p.P265P|BRD3_ENST00000371834.2_Silent_p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	265					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGACAACGGCGGGGGCGACT	0.637			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7	0.670000	0.290000	5.700000e-01	3.700000e-01	0.460000	0.473376	0.460000	0.460000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(793-795)ccG>ccA		bromodomain containing 3							43.0	54.0	51.0					9																	136913496		2203	4294	6497	SO:0001819	synonymous_variant	8019	0	0					g.chr9:136913496C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.795G>A	chr9.hg19:g.136913496C>T		0					BRD3_ENST00000357885.2_Silent_p.P265P|BRD3_ENST00000371834.2_Silent_p.P265P	p.P265P	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		6	980	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	1	1	hg19	c.795G>A	CCDS6980.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	0	0	1		2	2	2	0		0	0	86		86	48	1	2.060000	-2.415328	0	0.170000	NM_007371			21	21		503	391	0		1	1		0	0	86	0		9.999739e-01	8.376332e-01	0	3	0	78	0	21	503
BRD3	8019	broad.mit.edu	37	9	136917482	136917482	+	Silent	SNP	G	G	A	rs61731642		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	BRD3_ENST00000357885.2_Silent_p.S99S|BRD3_ENST00000371834.2_Silent_p.S99S|RP11-374P20.4_ENST00000412181.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	99	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373			T	C15orf55	lethal midline carcinoma of young people								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0					ENST00000303407.7	1.000000	0.860000	1	9.900000e-01	0.990000	0.990358	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(295-297)agC>agT		bromodomain containing 3		G		11,4395	17.9+/-39.9	0,11,2192	106.0	108.0	108.0		297	-8.7	0.0	9	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	BRD3	NM_007371.3		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		99/727	136917482	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	8019	19	121408	46				g.chr9:136917482G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.297C>T	chr9.hg19:g.136917482G>A		0					RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000357885.2_Silent_p.S99S|BRD3_ENST00000371834.2_Silent_p.S99S	p.S99S	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		3	482	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	1	1	hg19	c.297C>T	CCDS6980.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_007371			32	32		265	257	1		1	0		0	0	52	0		1	9.690610e-01	0	0	0	49	0	32	265
BRD3	8019	broad.mit.edu	37	9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	BRD3_ENST00000357885.2_Missense_Mutation_p.A8T|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T|RP11-374P20.4_ENST00000412181.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	8					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999847	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34	9q34	8019	T	bromodomain containing 3				E	E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				6						c.(22-24)Gcc>Acc		bromodomain containing 3							11.0	14.0	13.0					9																	136918578		2184	4281	6465	SO:0001583	missense	8019	1	120472	20				g.chr9:136918578C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.22G>A	chr9.hg19:g.136918578C>T	ENSP00000305918:p.Ala8Thr	0					RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T	p.A8T	NM_007371.3	NP_031397.1	0	0	0	1.941936	Q15059	BRD3_HUMAN		2	207	-			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	1	1	hg19	c.22G>A	CCDS6980.1	1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645186	0.14451	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842;ENST00000433041	T;T;T;T	0.15603	3.28;3.0;3.0;2.41	4.87	2.74	0.32292	4.87	2.74	0.32292	.	0.201811	0.24876	N	0.034884	T	0.11922	0.0290	L	0.28556	0.865	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.48119	T	0.1	-11.6772	8.9493	0.35779	0.0:0.7091:0.0:0.2909	.	8;8	Q15059-2;Q15059	.;BRD3_HUMAN	T	8	ENSP00000305918:A8T;ENSP00000360900:A8T;ENSP00000350557:A8T;ENSP00000360908:A8T	ENSP00000305918:A8T	A	-	1	0	0	BRD3	135908399	135908399	0.481000	0.25941	0.760000	0.31359	0.127000	0.20565	0.989000	0.29629	1.045000	0.40225	-0.444000	0.05651	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_007371			25	24		119	114	0		1	1		0	0	17	0		9.999999e-01	9.734369e-01	0	5	0	26	0	25	119
WDR5	11091	broad.mit.edu	37	9	137019649	137019649	+	Silent	SNP	C	C	T	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	231					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617													C|||	5	0.000998403	0.0015	0.0029	5008	,	,		16863	0.0		0.001	False		,,,				2504	0.0					ENST00000358625.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(691-693)gcC>gcT		WD repeat domain 5		C	,	18,4388	26.2+/-53.5	0,18,2185	154.0	141.0	146.0		693,693	-8.0	0.1	9	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	0,20,6483	TT,TC,CC		0.0233,0.4085,0.1538	,	231/335,231/335	137019649	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	11091	65	121412	55				g.chr9:137019649C>T	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.693C>T	chr9.hg19:g.137019649C>T		0					WDR5_ENST00000425041.1_Silent_p.A231A	p.A231A	NM_017588.2	NP_060058.1	0	0	0	1.941936	P61964	WDR5_HUMAN		10	864	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	1	1	hg19	c.693C>T	CCDS6981.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	0	0	1		2	2	2	0		0	0	232		232	232	1	2.060000	-3.069550	1	0.170000	NM_052821			196	193		893	882	1		1	1		0	0	232	0		1	1	0	29	0	96	0	196	893
RXRA	6256	broad.mit.edu	37	9	137328346	137328346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	ENST00000481739.1	+	10	1327	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RXRA_ENST00000540193.1_Silent_p.L328L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	425	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TGCCGGCTCTGCGCTCCATCG	0.617																																						ENST00000481739.1	0.610000	0.260000	5.200000e-01	3.300000e-01	0.410000	0.431963	0.410000	0.420000																										0				19						c.(1273-1275)ctG>ctA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)						125.0	112.0	116.0					9																	137328346		2203	4300	6503	SO:0001819	synonymous_variant	6256	0	0					g.chr9:137328346G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1275G>A	chr9.hg19:g.137328346G>A		0					RXRA_ENST00000540193.1_Silent_p.L328L|RXRA_ENST00000356384.4_3'UTR	p.L425L	NM_002957.4	NP_002948.1	0	0	0	1.941936	P19793	RXRA_HUMAN		10	1327	+			B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	1	1	hg19	c.1275G>A	CCDS35172.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	0	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-3.962773	1	0.170000	NM_002957			21	20		554	542	0		1	1		0	0	104	0		9.999969e-01	9.695310e-01	0	5	0	147	0	21	554
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T	rs561761305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	144	Laminin G-like.				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)			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)		GAGGACCACACGGGGAAGCCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(430-432)aCg>aTg		collagen, type V, alpha 1							55.0	61.0	59.0					9																	137591908		2203	4300	6503	SO:0001583	missense	1289	4	121406	41				g.chr9:137591908C>T	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.431C>T	chr9.hg19:g.137591908C>T	ENSP00000360882:p.Thr144Met	0					COL5A1_ENST00000464187.1_3'UTR	p.T144M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		3	845	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.431C>T	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608730	0.46527	.	.	ENSG00000130635	ENST00000371817	T	0.02472	4.28	4.57	2.26	0.28386	4.57	2.26	0.28386	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);	0.507528	0.17987	U	0.155333	T	0.04003	0.0112	M	0.68593	2.085	0.32628	N	0.522422	B	0.11235	0.004	B	0.10450	0.005	T	0.02751	-1.1115	10	0.49607	T	0.09	.	5.2768	0.15653	0.1567:0.6225:0.0:0.2207	.	144	P20908	CO5A1_HUMAN	M	144	ENSP00000360882:T144M	ENSP00000360882:T144M	T	+	2	0	0	COL5A1	136731729	136731729	0.445000	0.25657	0.954000	0.39281	0.986000	0.74619	1.052000	0.30429	1.047000	0.40274	0.655000	0.94253	ACG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_000093			71	70		307	304	1		1	0		0	0	71	0		1	1	0	1	0	599	0	71	307
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	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)			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)		TTTCAGTACACGGAAGGAGAC	0.612																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(790-792)aCg>aTg		collagen, type V, alpha 1		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	121.0	120.0		791	3.9	1.0	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289	3	121412	40				g.chr9:137620520C>T	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.791C>T	chr9.hg19:g.137620520C>T	ENSP00000360882:p.Thr264Met	0						p.T264M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		6	1205	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.791C>T	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	0	COL5A1	136760341	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	218		218	215	1	2.060000	-20.000000	1	0.170000	NM_000093			167	166		869	854	1		1	0		0	0	218	0		1	1	0	0	0	1147	0	167	869
COL5A1	1289	broad.mit.edu	37	9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	412	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)			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)		GATCCGGAACCTTGACGAGAA	0.622																																						ENST00000371817.3	0.550000	0.190000	4.500000e-01	2.600000e-01	0.340000	0.359328	0.340000	0.340000																										0				115						c.(1234-1236)Ctt>Att		collagen, type V, alpha 1							140.0	111.0	121.0					9																	137623411		2203	4300	6503	SO:0001583	missense	1289	0	0					g.chr9:137623411C>A	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.1234C>A	chr9.hg19:g.137623411C>A	ENSP00000360882:p.Leu412Ile	0						p.L412I	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		8	1648	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.1234C>A	CCDS6982.1	0	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174191	0.09391	.	.	ENSG00000130635	ENST00000371817	D	0.89552	-2.53	4.16	2.19	0.27852	4.16	2.19	0.27852	.	0.936132	0.08761	U	0.897691	T	0.79082	0.4386	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61520	-0.7046	10	0.22109	T	0.4	.	5.1304	0.14907	0.0:0.4548:0.4015:0.1437	.	412	P20908	CO5A1_HUMAN	I	412	ENSP00000360882:L412I	ENSP00000360882:L412I	L	+	1	0	0	COL5A1	136763232	136763232	0.239000	0.23836	0.097000	0.21041	0.137000	0.21094	0.610000	0.24253	0.188000	0.20168	0.313000	0.20887	CTT	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-3.184783	1	0.170000	NM_000093			13	13		425	423	0		1	0		0	0	68	0		9.995336e-01	1	0	0	0	1388	0	13	425
COL5A1	1289	broad.mit.edu	37	9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	497	Interrupted collagenous 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)			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)		GGACCCTGGAGAAAGGGTAAG	0.572																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				115						c.(1489-1491)Gaa>Taa		collagen, type V, alpha 1							75.0	76.0	76.0					9																	137630649		2203	4300	6503	SO:0001587	stop_gained	1289	0	0					g.chr9:137630649G>T	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.1489G>T	chr9.hg19:g.137630649G>T	ENSP00000360882:p.Glu497*	0						p.E497*	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		11	1903	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	0	1	hg19	c.1489G>T	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.520879	0.99420	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000360882:E497X	E	+	1	0	0	COL5A1	136770470	136770470	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.337000	0.72958	2.166000	0.68216	0.491000	0.48974	GAA	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	0		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_000093			66	66		384	371	1		1	0		0	0	92	0		1	1	0	1	0	759	0	66	384
COL5A1	1289	broad.mit.edu	37	9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	652	Triple-helical 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)			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)		GGTCCTTCCGGCCCACCAGGA	0.577																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(1954-1956)gGc>gAc		collagen, type V, alpha 1							111.0	102.0	105.0					9																	137653790		2203	4300	6503	SO:0001583	missense	1289	0	0					g.chr9:137653790G>A	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.1955G>A	chr9.hg19:g.137653790G>A	ENSP00000360882:p.Gly652Asp	0						p.G652D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		19	2369	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.1955G>A	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223112	0.39300	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.154112	0.42294	U	0.000725	D	0.99764	0.9904	H	0.98133	4.155	0.51767	D	0.999933	D	0.89917	1.0	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	12.7642	0.57383	0.0:0.0:1.0:0.0	.	652	P20908	CO5A1_HUMAN	D	652	ENSP00000360882:G652D	ENSP00000360882:G652D	G	+	2	0	0	COL5A1	136793611	136793611	1.000000	0.71417	0.993000	0.49108	0.371000	0.29859	6.552000	0.73914	2.067000	0.61834	0.556000	0.70494	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	0		2	2	2	0		0	0	72		72	71	1	2.060000	-3.205692	1	0.170000	NM_000093			69	68		321	318	1		1	1		0	0	72	0		1	1	0	2	0	803	0	69	321
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical 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)			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)		CCAGGACCTCCGGGAGACGAT	0.597																																						ENST00000371817.3	1.000000	0.510000	9.300000e-01	6.300000e-01	0.770000	0.782476	0.770000	1.000000																										0				115						c.(1969-1971)cCg>cTg		collagen, type V, alpha 1			LEU/PRO	0,4404		0,0,2202	109.0	100.0	103.0		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense	1289	6	121392	41				g.chr9:137653805C>T	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.1970C>T	chr9.hg19:g.137653805C>T	ENSP00000360882:p.Pro657Leu	0						p.P657L	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		19	2384	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.1970C>T	CCDS6982.1	0	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	0	COL5A1	136793626	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-3.075734	1	0.170000	NM_000093			25	25		344	339	0		1	0		0	0	74	0		9.999998e-01	1	0	0	0	939	0	25	344
COL5A1	1289	broad.mit.edu	37	9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	799	Triple-helical 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)			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)		GGGGCCGATGGCATCCGTGGT	0.597																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(2395-2397)gGc>gAc		collagen, type V, alpha 1							94.0	99.0	97.0					9																	137671958		2203	4300	6503	SO:0001583	missense	1289	0	0					g.chr9:137671958G>A	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.2396G>A	chr9.hg19:g.137671958G>A	ENSP00000360882:p.Gly799Asp	0						p.G799D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		28	2810	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.2396G>A	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452148	0.63290	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.99	3.99	0.46301	3.99	3.99	0.46301	.	.	.	.	.	D	0.99809	0.9917	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96523	0.9387	9	0.87932	D	0	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	799	P20908	CO5A1_HUMAN	D	799	ENSP00000360882:G799D	ENSP00000360882:G799D	G	+	2	0	0	COL5A1	136811779	136811779	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	8.204000	0.89741	1.933000	0.56026	0.655000	0.94253	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_000093			124	120		551	540	1		1	0		0	0	128	0		1	1	0	0	0	998	0	124	551
COL5A1	1289	broad.mit.edu	37	9	137703363	137703363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	ENST00000371817.3	+	46	4022	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1203	Triple-helical 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)			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)		CCGGGGCCTCGGGGCCAGCAG	0.652											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				115						c.(3607-3609)cGg>cAg		collagen, type V, alpha 1							19.0	22.0	21.0					9																	137703363		2198	4282	6480	SO:0001583	missense	1289	0	0					g.chr9:137703363G>A	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.3608G>A	chr9.hg19:g.137703363G>A	ENSP00000360882:p.Arg1203Gln	0		OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1635		p.R1203Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		46	4022	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.3608G>A	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617406	0.66672	.	.	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	4.19	4.19	0.49359	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.94215	0.8143	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.70227	0.968	D	0.94818	0.7984	10	0.54805	T	0.06	.	16.5137	0.84293	0.0:0.0:1.0:0.0	.	1203	P20908	CO5A1_HUMAN	Q	1203	ENSP00000360882:R1203Q	ENSP00000360882:R1203Q	R	+	2	0	0	COL5A1	136843184	136843184	1.000000	0.71417	0.359000	0.25824	0.434000	0.31775	9.707000	0.98725	1.886000	0.54624	0.544000	0.68410	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-3.908130	1	0.170000	NM_000093			32	28		114	112	0		1	0		0	0	21	0		1	1	0	0	0	835	0	32	114
COL5A1	1289	broad.mit.edu	37	9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1456	Triple-helical 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)			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)		AGGATCCCCAGGCCCGGACGG	0.632																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				115						c.(4366-4368)Ggc>Tgc		collagen, type V, alpha 1							51.0	50.0	50.0					9																	137710721		2203	4300	6503	SO:0001583	missense	1289	0	0					g.chr9:137710721G>T	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.4366G>T	chr9.hg19:g.137710721G>T	ENSP00000360882:p.Gly1456Cys	0						p.G1456C	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		56	4780	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.4366G>T	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870760	0.72065	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.69	4.69	0.59074	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99635	0.9866	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97268	0.9909	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1456	P20908	CO5A1_HUMAN	C	1456	ENSP00000360882:G1456C	ENSP00000360882:G1456C	G	+	1	0	0	COL5A1	136850542	136850542	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_000093			47	47		254	244	1		1	0		0	0	49	0		1	1	0	0	0	938	0	47	254
COL5A1	1289	broad.mit.edu	37	9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323). {ECO:0000305}.	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)			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)		AACTGGCCCGAAGGGTGAGGC	0.597																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				115						c.(4660-4662)Aag>Gag		collagen, type V, alpha 1							99.0	116.0	110.0					9																	137715277		2203	4300	6503	SO:0001583	missense	1289	0	0					g.chr9:137715277A>G	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.4660A>G	chr9.hg19:g.137715277A>G	ENSP00000360882:p.Lys1554Glu	0						p.K1554E	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		61	5074	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.4660A>G	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112518	0.77210	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.94138	-3.36	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	D	0.94238	0.8150	L	0.33710	1.025	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.94402	0.7624	10	0.48119	T	0.1	.	14.9462	0.71032	1.0:0.0:0.0:0.0	.	1554	P20908	CO5A1_HUMAN	E	1554;91	ENSP00000360882:K1554E	ENSP00000347458:K91E	K	+	1	0	0	COL5A1	136855098	136855098	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.247000	0.95444	1.934000	0.56057	0.523000	0.50628	AAG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	1		2	2	2	0		0	0	151		151	151	1	2.060000	-20.000000	1	0.170000	NM_000093			124	123		616	613	1		1	0		0	0	151	0		1	1	0	0	0	884	0	124	616
COL5A1	1289	broad.mit.edu	37	9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1783	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			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)		CCCTACATCCGCGCCCTGGTG	0.667																																						ENST00000371817.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998413	0.990000	1.000000																										0				115						c.(5347-5349)cGc>cAc		collagen, type V, alpha 1							75.0	64.0	67.0					9																	137727028		2203	4300	6503	SO:0001583	missense	1289	5	121410	34				g.chr9:137727028G>A	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.5348G>A	chr9.hg19:g.137727028G>A	ENSP00000360882:p.Arg1783His	0						p.R1783H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	0	0	1.941936	P20908	CO5A1_HUMAN		65	5762	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.5348G>A	CCDS6982.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656189	0.47467	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73897	-0.79	5.03	1.15	0.20763	5.03	1.15	0.20763	Fibrillar collagen, C-terminal (4);	0.096797	0.41605	U	0.000857	T	0.64538	0.2607	L	0.48877	1.53	0.22446	N	0.999096	B	0.14012	0.009	B	0.12837	0.008	T	0.56025	-0.8047	10	0.52906	T	0.07	.	9.8595	0.41105	0.281:0.0:0.719:0.0	.	1783	P20908	CO5A1_HUMAN	H	1783;320	ENSP00000360882:R1783H	ENSP00000347458:R320H	R	+	2	0	0	COL5A1	136866849	136866849	0.998000	0.40836	0.884000	0.34674	0.982000	0.71751	2.669000	0.46825	-0.051000	0.13334	-0.254000	0.11334	CGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_000093			28	27		186	184	1		1	1		0	0	42	0		1	1	0	4	0	1187	0	28	186
FCN2	2220	broad.mit.edu	37	9	137772718	137772718	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000291744.6	+	1	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000350339.2_Silent_p.L17L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	17					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)			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)		CCCTGCTGCTCTCTTTCCTGG	0.607																																						ENST00000291744.6	1.000000	0.320000	9.200000e-01	4.700000e-01	0.670000	0.690535	0.670000	1.000000																										0				20						c.(49-51)ctC>ctA		ficolin (collagen/fibrinogen domain containing lectin) 2							40.0	46.0	44.0					9																	137772718		2203	4300	6503	SO:0001819	synonymous_variant	2220	0	0					g.chr9:137772718C>A	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.51C>A	chr9.hg19:g.137772718C>A		0					FCN2_ENST00000350339.2_Silent_p.L17L	p.L17L	NM_004108.2	NP_004099.2	0	0	0	1.941936	Q15485	FCN2_HUMAN		1	61	+		Myeloproliferative disorder(178;0.0333)	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	1	1	hg19	c.51C>A	CCDS6983.1	0																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-3.232814	1	0.170000	NM_004108			8	7		130	130	0		1	0		0	0	27	0		9.897453e-01	0	0	0	0	1	0	8	130
FCN2	2220	broad.mit.edu	37	9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000291744.6	+	5	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	138	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)			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)		CATGGACACGGACGGAGGGGG	0.667																																						ENST00000291744.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999489	0.990000	1.000000																										0				20						c.(412-414)Gac>Aac		ficolin (collagen/fibrinogen domain containing lectin) 2							34.0	35.0	35.0					9																	137777195		2203	4295	6498	SO:0001583	missense	2220	0	0					g.chr9:137777195G>A	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.412G>A	chr9.hg19:g.137777195G>A	ENSP00000291744:p.Asp138Asn	0					FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	p.D138N	NM_004108.2	NP_004099.2	0	0	0	1.941936	Q15485	FCN2_HUMAN		5	422	+		Myeloproliferative disorder(178;0.0333)	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	0	1	hg19	c.412G>A	CCDS6983.1	1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142895	0.57044	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.78595	-1.19;-1.19	3.43	3.43	0.39272	3.43	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.318052	0.21853	N	0.068150	D	0.88440	0.6437	M	0.88640	2.97	0.43412	D	0.995559	D;D	0.64830	0.994;0.989	D;D	0.70016	0.967;0.951	D	0.90157	0.4225	10	0.87932	D	0	.	12.333	0.55049	0.0:0.0:1.0:0.0	.	100;138	Q15485-2;Q15485	.;FCN2_HUMAN	N	100;138	ENSP00000291741:D100N;ENSP00000291744:D138N	ENSP00000291744:D138N	D	+	1	0	0	FCN2	136917016	136917016	1.000000	0.71417	0.048000	0.18961	0.396000	0.30629	6.579000	0.74036	1.441000	0.47550	0.462000	0.41574	GAC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	1	0	1		2	2	2	0		0	0	32		32	34	1	2.060000	-20.000000	1	0.170000	NM_004108			24	23		130	129	1		1			0	0	32	0		9.999998e-01	0	0	0	0	0	0	24	130
FCN1	2219	broad.mit.edu	37	9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	309	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)			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)		GTACCCCTTCGCCGCACTCCA	0.577																																						ENST00000371806.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(925-927)gCg>gTg		ficolin (collagen/fibrinogen domain containing) 1							108.0	99.0	102.0					9																	137801699		2203	4300	6503	SO:0001583	missense	2219	0	0					g.chr9:137801699G>A	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.926C>T	chr9.hg19:g.137801699G>A	ENSP00000360871:p.Ala309Val	0						p.A309V	NM_002003.3	NP_001994.2	0	0	0	1.941936	O00602	FCN1_HUMAN		9	1017	-		Myeloproliferative disorder(178;0.0333)	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	1	1	hg19	c.926C>T	CCDS6985.1	1	.	.	.	.	.	.	.	.	.	.	g	6.162	0.398001	0.11696	.	.	ENSG00000085265	ENST00000371806	T	0.76186	-1.0	3.2	1.31	0.21738	3.2	1.31	0.21738	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.53029	0.1771	N	0.04880	-0.145	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.40776	-0.9545	9	0.49607	T	0.09	.	13.1125	0.59281	0.0:0.8293:0.1707:0.0	.	309	O00602	FCN1_HUMAN	V	309	ENSP00000360871:A309V	ENSP00000360871:A309V	A	-	2	0	0	FCN1	136941520	136941520	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.833000	0.39161	0.187000	0.20147	-0.814000	0.03130	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-3.862459	1	0.170000	NM_002003			101	99		381	374	1		1	0		0	0	87	0		1	9.503960e-01	0	0	0	21	0	101	381
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	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)			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)		AAATACCCCCGGTCTAGCAGG	0.682																																						ENST00000371806.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999869	0.990000	1.000000																										0				37						c.(370-372)Cgg>Tgg		ficolin (collagen/fibrinogen domain containing) 1							44.0	42.0	43.0					9																	137804960		2203	4300	6503	SO:0001583	missense	2219	1	121408	25				g.chr9:137804960G>A	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.370C>T	chr9.hg19:g.137804960G>A	ENSP00000360871:p.Arg124Trp	0						p.R124W	NM_002003.3	NP_001994.2	0	0	0	1.941936	O00602	FCN1_HUMAN		6	461	-		Myeloproliferative disorder(178;0.0333)	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	1	1	hg19	c.370C>T	CCDS6985.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567818	0.45798	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.78126	-1.15	3.39	-0.646	0.11472	3.39	-0.646	0.11472	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.85635	0.5742	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.54965	0.765	T	0.77907	-0.2412	9	0.87932	D	0	.	11.0246	0.47739	0.0:0.0:0.5173:0.4827	.	124	O00602	FCN1_HUMAN	W	124;124;112	ENSP00000360871:R124W	ENSP00000308877:R112W	R	-	1	2	2	FCN1	136944781	136944781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.115000	0.11915	-0.287000	0.09952	CGG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-20.000000	1	0.170000	NM_002003			26	25		125	123	1		1	0		0	0	26	0		1	5.428162e-01	0	0	0	10	0	26	125
OLFM1	10439	broad.mit.edu	37	9	137990133	137990133	+	Splice_Site	SNP	C	C	T	rs367620749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000371793.3	+	4	709	c.458C>T	c.(457-459)gCg>gTg	p.A153V	OLFM1_ENST00000371796.3_Splice_Site_p.A126V|OLFM1_ENST00000252854.4_Splice_Site_p.A135V	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	153					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)			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)		ACCTTGCAGGCGATAAAAGCG	0.468																																						ENST00000371793.3	1.000000	0.870000	1	9.900000e-01	0.990000	0.991642	0.990000	1.000000																										0				21						c.(457-459)gCg>gTg		olfactomedin 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	82.0	78.0	79.0		404	5.1	1.0	9		79	0,8598		0,0,4299	no	missense-near-splice	OLFM1	NM_014279.4	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	135/468	137990133	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	10439	1	121402	32				g.chr9:137990133C>T	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.457-1C>T	chr9.hg19:g.137990133C>T		0					OLFM1_ENST00000371796.3_Splice_Site_p.A126V|OLFM1_ENST00000252854.4_Splice_Site_p.A135V	p.A153V	NM_001282611.1	NP_001269540.1	0	0	0	1.941936	Q99784	NOE1_HUMAN		4	709	+		Myeloproliferative disorder(178;0.0333)	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Splice_Site	SNP	ENST00000371793.3	1	0	hg19	c.458C>T		1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216445	0.58452	2.27E-4	0.0	ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	D;T;D;T;D;D	0.87103	-2.21;1.44;-2.21;0.45;-2.21;-1.94	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	N	0.19112	0.55	0.80722	D	1	P;B	0.39862	0.692;0.375	B;B	0.36808	0.233;0.104	T	0.81994	-0.0677	10	0.48119	T	0.1	.	18.9219	0.92529	0.0:1.0:0.0:0.0	.	153;135	Q99784;Q6IMJ8	NOE1_HUMAN;.	V	135;142;126;70;153;50	ENSP00000252854:A135V;ENSP00000340318:A142V;ENSP00000360861:A126V;ENSP00000444296:A70V;ENSP00000360858:A153V;ENSP00000443806:A50V	ENSP00000252854:A135V	A	+	2	0	0	OLFM1	137129954	137129954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.695000	0.68279	2.546000	0.85860	0.637000	0.83480	GCG	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.318934	1	0.170000	NM_014279	Missense_Mutation		26	26		203	198	1		1	0		0	0	40	0		9.999999e-01	9.329344e-01	0	1	0	37	0	26	203
OLFM1	10439	broad.mit.edu	37	9	137998692	137998692	+	Silent	SNP	C	C	T	rs557820013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000371793.3	+	5	1025	c.774C>T	c.(772-774)ggC>ggT	p.G258G	OLFM1_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000252854.4_Silent_p.G240G	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	258	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			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)		CCCCTGAAGGCGATAACCGGG	0.617																																						ENST00000371793.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.997228	0.990000	1.000000																										0				21						c.(772-774)ggC>ggT		olfactomedin 1							57.0	49.0	52.0					9																	137998692		2202	4300	6502	SO:0001819	synonymous_variant	10439	2	121280	30				g.chr9:137998692C>T	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.774C>T	chr9.hg19:g.137998692C>T		0					OLFM1_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000252854.4_Silent_p.G240G	p.G258G	NM_001282611.1	NP_001269540.1	0	0	0	1.941936	Q99784	NOE1_HUMAN		5	1025	+		Myeloproliferative disorder(178;0.0333)	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	0	1	hg19	c.774C>T		1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-19.999990	1	0.170000	NM_014279			14	14		69	68	1		1	1		0	0	16	0		9.998303e-01	9.914205e-01	0	20	0	23	0	14	69
MRPS2	51116	broad.mit.edu	37	9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	C9orf116_ENST00000371791.1_Intron|C9orf116_ENST00000429260.2_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T|C9orf116_ENST00000371789.3_5'Flank|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	16					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716																																						ENST00000371785.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(46-48)Gcc>Acc		mitochondrial ribosomal protein S2							13.0	16.0	15.0					9																	138392846		2172	4246	6418	SO:0001583	missense	51116	0	0					g.chr9:138392846G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.46G>A	chr9.hg19:g.138392846G>A	ENSP00000360850:p.Ala16Thr	0					MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000429260.2_5'Flank|C9orf116_ENST00000371791.1_Intron	p.A16T			0	0	0	1.941936	Q9Y399	RT02_HUMAN		3	255	+			Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	1	1	hg19	c.46G>A	CCDS6990.1	1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389307	0.42410	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.36699	1.91;1.91;1.24	3.64	-1.15	0.09709	3.64	-1.15	0.09709	.	1.354340	0.05382	U	0.537332	T	0.22244	0.0536	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16276	-1.0408	10	0.11485	T	0.65	-4.5501	0.4291	0.00468	0.2622:0.1978:0.3387:0.2013	.	16	Q9Y399	RT02_HUMAN	T	16;16;30	ENSP00000360850:A16T;ENSP00000241600:A16T;ENSP00000400082:A30T	ENSP00000241600:A16T	A	+	1	0	0	MRPS2	137532667	137532667	0.094000	0.21725	0.011000	0.14972	0.102000	0.19082	0.105000	0.15333	-0.091000	0.12440	0.484000	0.47621	GCC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000				46	45		150	147	0		1	0		0	0	44	0		1	0	0	0	0	1	0	46	150
MRPS2	51116	broad.mit.edu	37	9	138395463	138395463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Silent_p.L125L|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	125					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567																																						ENST00000371785.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997712	0.990000	1.000000																										0				6						c.(373-375)ctC>ctT		mitochondrial ribosomal protein S2							118.0	88.0	98.0					9																	138395463		2203	4300	6503	SO:0001819	synonymous_variant	51116	0	0					g.chr9:138395463C>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.375C>T	chr9.hg19:g.138395463C>T		0					MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank	p.L125L			0	0	0	1.941936	Q9Y399	RT02_HUMAN		5	584	+			Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	1	1	hg19	c.375C>T	CCDS6990.1	1																																																																																								1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-2.774775	1	0.170000				36	36		267	261	1		1	1		0	0	78	0		1	1	0	44	0	238	0	36	267
MRPS2	51116	broad.mit.edu	37	9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	174					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582																																						ENST00000371785.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				6						c.(520-522)Ggc>Agc		mitochondrial ribosomal protein S2							58.0	54.0	56.0					9																	138395608		2203	4300	6503	SO:0001583	missense	51116	0	0					g.chr9:138395608G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.520G>A	chr9.hg19:g.138395608G>A	ENSP00000360850:p.Gly174Ser	0					MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank	p.G174S			0	0	0	1.941936	Q9Y399	RT02_HUMAN		5	729	+			Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	1	1	hg19	c.520G>A	CCDS6990.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579148	0.86645	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.78816	-1.21;-1.21;-1.21	4.56	3.66	0.41972	4.56	3.66	0.41972	Ribosomal protein S2, flavodoxin-like domain (1);	0.051133	0.85682	D	0.000000	D	0.91703	0.7377	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.93279	0.6658	10	0.87932	D	0	-49.8301	11.7384	0.51778	0.0857:0.0:0.9143:0.0	.	188;174	Q5T8A0;Q9Y399	.;RT02_HUMAN	S	174;174;188	ENSP00000360850:G174S;ENSP00000241600:G174S;ENSP00000400082:G188S	ENSP00000241600:G174S	G	+	1	0	0	MRPS2	137535429	137535429	1.000000	0.71417	0.957000	0.39632	0.740000	0.42216	8.540000	0.90641	1.140000	0.42260	0.585000	0.79938	GGC	1.467928e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.374620	1	0.170000				49	47		237	229	1		1	1		0	0	40	0		1	1	0	67	0	141	0	49	237
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			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)		TGAATAACTCCGTTCAGATAT	0.383																																						ENST00000371763.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(745-747)Gga>Aga		glycosyltransferase 6 domain containing 1							148.0	146.0	146.0					9																	138516029		1843	4101	5944	SO:0001583	missense	360203	14	120806	43				g.chr9:138516029C>T	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.745G>A	chr9.hg19:g.138516029C>T	ENSP00000360829:p.Gly249Arg	0						p.G249R	NM_182974.2	NP_892019.2	0	0	0	1.937903	Q7Z4J2	GL6D1_HUMAN		5	998	-		Myeloproliferative disorder(178;0.0821)		Missense_Mutation	SNP	ENST00000371763.1	1	1	hg19	c.745G>A	CCDS43900.1	1	.	.	.	.	.	.	.	.	.	.	c	10.80	1.453806	0.26161	.	.	ENSG00000204007	ENST00000371763	T	0.01406	4.93	2.8	-1.55	0.08558	2.8	-1.55	0.08558	.	0.488677	0.19103	N	0.122652	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	D	0.67145	0.996	P	0.49012	0.598	T	0.35076	-0.9803	10	0.59425	D	0.04	-16.6457	4.0427	0.09758	0.1646:0.5121:0.0:0.3233	.	249	Q7Z4J2	GL6D1_HUMAN	R	249	ENSP00000360829:G249R	ENSP00000360829:G249R	G	-	1	0	0	GLT6D1	137655850	137655850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.663000	0.25053	-0.360000	0.08138	-2.026000	0.00426	GGA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-2.611945	1	0.170000	NM_182974			97	97		457	451	1		1			0	0	108	0		1	0	0	0	0	0	0	97	457
GLT6D1	360203	broad.mit.edu	37	9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T	rs200843676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	159					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.A159T(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)		ATGTGACTGGCGATGTGTTCA	0.592																																						ENST00000371763.1	0.880000	0.270000	7.100000e-01	3.800000e-01	0.530000	0.553989	0.530000	0.510000																										1	Substitution - Missense(1)	p.A159T(1)	endometrium(1)	15						c.(475-477)Gcc>Acc		glycosyltransferase 6 domain containing 1							44.0	46.0	45.0					9																	138516299		1995	4161	6156	SO:0001583	missense	360203	3	120922	33				g.chr9:138516299C>T	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.475G>A	chr9.hg19:g.138516299C>T	ENSP00000360829:p.Ala159Thr	0						p.A159T	NM_182974.2	NP_892019.2	0	0	0	1.937903	Q7Z4J2	GL6D1_HUMAN		5	728	-		Myeloproliferative disorder(178;0.0821)		Missense_Mutation	SNP	ENST00000371763.1	1	1	hg19	c.475G>A	CCDS43900.1	0	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175931	0.01646	.	.	ENSG00000204007	ENST00000371763	T	0.01246	5.11	3.49	-6.99	0.01605	3.49	-6.99	0.01605	.	2.131500	0.02486	N	0.088984	T	0.01421	0.0046	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43925	-0.9361	10	0.11182	T	0.66	-4.1633	6.7334	0.23395	0.1521:0.4874:0.2584:0.1022	.	159	Q7Z4J2	GL6D1_HUMAN	T	159	ENSP00000360829:A159T	ENSP00000360829:A159T	A	-	1	0	0	GLT6D1	137656120	137656120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-4.466000	0.00047	-1.708000	0.00717	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-12.296790	1	0.170000	NM_182974			10	10		208	207	0		1			0	0	43	0		9.970109e-01	0	0	0	0	0	0	10	208
GLT6D1	360203	broad.mit.edu	37	9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	70					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			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)		CCGCCTTCTGTAATGTTTTTC	0.498																																						ENST00000371763.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				15						c.(208-210)tAc>tGc		glycosyltransferase 6 domain containing 1							81.0	85.0	83.0					9																	138517963		1896	4102	5998	SO:0001583	missense	360203	2	120806	32				g.chr9:138517963T>C	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.209A>G	chr9.hg19:g.138517963T>C	ENSP00000360829:p.Tyr70Cys	0						p.Y70C	NM_182974.2	NP_892019.2	0	0	0	1.937903	Q7Z4J2	GL6D1_HUMAN		4	462	-		Myeloproliferative disorder(178;0.0821)		Missense_Mutation	SNP	ENST00000371763.1	1	1	hg19	c.209A>G	CCDS43900.1	1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363151	0.41902	.	.	ENSG00000204007	ENST00000371763	T	0.01871	4.59	4.18	3.0	0.34707	4.18	3.0	0.34707	.	0.135912	0.34223	N	0.004144	T	0.11281	0.0275	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03278	-1.1053	10	0.87932	D	0	-33.1822	7.0578	0.25109	0.3636:0.0:0.0:0.6364	.	70	Q7Z4J2	GL6D1_HUMAN	C	70	ENSP00000360829:Y70C	ENSP00000360829:Y70C	Y	-	2	0	0	GLT6D1	137657784	137657784	0.854000	0.29725	0.011000	0.14972	0.006000	0.05464	1.747000	0.38298	0.739000	0.32628	0.496000	0.49642	TAC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-19.999980	1	0.170000	NM_182974			53	52		310	306	1		1			0	0	60	0		1	0	0	0	0	0	0	53	310
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																						ENST00000277526.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999497	0.990000	1.000000																										0				6						c.(424-426)tgC>tgT		lipocalin 9							44.0	44.0	44.0					9																	138557549		1925	4121	6046	SO:0001819	synonymous_variant	392399	1	120860	30				g.chr9:138557549C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	chr9.hg19:g.138557549C>T		0					LCN9_ENST00000430290.2_3'UTR	p.C142C	NM_001001676.1	NP_001001676.1	0	0	0	1.937903	Q8WX39	LCN9_HUMAN		5	426	+		Myeloproliferative disorder(178;0.0821)	C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	1	1	hg19	c.426C>T	CCDS56593.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_001001676			19	19		83	80	1		1			0	0	24	0		9.999932e-01	0	0	0	0	0	0	19	83
LCN9	392399	broad.mit.edu	37	9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	172						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCGCCCAGGCCTCCCATGCGT	0.687																																						ENST00000277526.3	1.000000	0.350000	1	5.200000e-01	0.760000	0.757294	0.760000	1.000000																										0				6						c.(514-516)cCt>cTt		lipocalin 9							20.0	23.0	22.0					9																	138557746		1928	4125	6053	SO:0001583	missense	392399	0	0					g.chr9:138557746C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.515C>T	chr9.hg19:g.138557746C>T	ENSP00000277526:p.Pro172Leu	0					LCN9_ENST00000430290.2_3'UTR	p.P172L	NM_001001676.1	NP_001001676.1	0	0	0	1.937903	Q8WX39	LCN9_HUMAN		6	515	+		Myeloproliferative disorder(178;0.0821)	C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	0	1	hg19	c.515C>T	CCDS56593.1	0	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721389	0.15372	.	.	ENSG00000148386	ENST00000277526	T	0.20200	2.09	2.68	-1.14	0.09741	2.68	-1.14	0.09741	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39800	-0.9596	9	0.06891	T	0.86	.	4.6366	0.12527	0.0:0.4144:0.4294:0.1562	.	172	Q8WX39	LCN9_HUMAN	L	172	ENSP00000277526:P172L	ENSP00000277526:P186L	P	+	2	0	0	LCN9	137697567	137697567	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.431000	0.07307	-0.802000	0.03209	CCT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	1	0	1		2	2	2	0		0	0	12		12	10	1	2.060000	-11.801070	1	0.170000	NM_001001676			7	7		99	98	0		1			0	0	12	0		9.811591e-01	0	0	0	0	0	0	7	99
SOHLH1	402381	broad.mit.edu	37	9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCTGAACCCAGGGCCCCAC	0.647																																						ENST00000298466.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996406	0.990000	1.000000																										0				12						c.(961-963)Ggg>Agg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							55.0	52.0	53.0					9																	138586218		2203	4298	6501	SO:0001583	missense	402381	0	0					g.chr9:138586218C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.961G>A	chr9.hg19:g.138586218C>T	ENSP00000298466:p.Gly321Arg	0					SOHLH1_ENST00000425225.1_Intron	p.G321R	NM_001012415.2	NP_001012415	0	0	0	1.937903	Q5JUK2	SOLH1_HUMAN		7	1021	-		Myeloproliferative disorder(178;0.0511)	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	1	1	hg19	c.961G>A	CCDS35174.1	1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522289	0.13066	.	.	ENSG00000165643	ENST00000298466	T	0.42513	0.97	1.82	1.82	0.25136	1.82	1.82	0.25136	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.35923	0.528	B	0.25884	0.064	T	0.09952	-1.0651	9	0.08599	T	0.76	.	7.183	0.25784	0.0:1.0:0.0:0.0	.	321	Q5JUK2	SOLH1_HUMAN	R	321	ENSP00000298466:G321R	ENSP00000298466:G321R	G	-	1	0	0	SOHLH1	137726039	137726039	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	-1.355000	0.02612	1.331000	0.45412	0.442000	0.29010	GGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-3.319316	1	0.170000	NM_001012415			28	28		201	195	1		1			0	0	41	0		1	0	0	0	0	0	0	28	201
KCNT1	57582	broad.mit.edu	37	9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000263604.3	+	10	778	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	260					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627																																						ENST00000263604.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(778-780)Ctg>Atg		potassium channel, subfamily T, member 1							239.0	183.0	202.0					9																	138650335		2203	4300	6503	SO:0001583	missense	57582	0	0					g.chr9:138650335C>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.778C>A	chr9.hg19:g.138650335C>A	ENSP00000263604:p.Leu260Met	0					KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M	p.L260M			0	0	0	1.937903	Q5JUK3	KCNT1_HUMAN		10	778	+		Myeloproliferative disorder(178;0.0821)	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	1	1	hg19	c.778C>A		1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786275	0.49997	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.38560	1.6;1.13;1.13;1.13;1.13	4.58	3.44	0.39384	4.58	3.44	0.39384	Ion transport 2 (1);	0.098778	0.42420	U	0.000702	T	0.57286	0.2043	M	0.68952	2.095	0.52099	D	0.999949	P;P;D;P	0.56035	0.767;0.607;0.974;0.607	P;P;P;P	0.61800	0.588;0.507;0.894;0.61	T	0.62718	-0.6795	10	0.72032	D	0.01	-27.2141	12.5974	0.56478	0.0:0.9008:0.0:0.0992	.	246;279;231;260	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	231;279;279;226;240;246;260;260;260	ENSP00000417851:L231M;ENSP00000298480:L279M;ENSP00000360822:L279M;ENSP00000420764:L226M;ENSP00000263604:L260M	ENSP00000263604:L260M	L	+	1	2	2	KCNT1	137790156	137790156	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.960000	0.40422	2.086000	0.62901	0.313000	0.20887	CTG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_020822			93	92		353	351	1		1			0	0	78	0		1	0	0	0	0	0	0	93	353
KCNT1	57582	broad.mit.edu	37	9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000263604.3	+	17	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	532	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677																																						ENST00000263604.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(1594-1596)Cgc>Tgc		potassium channel, subfamily T, member 1							55.0	47.0	50.0					9																	138662175		2202	4300	6502	SO:0001583	missense	57582	2	121378	35				g.chr9:138662175C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1594C>T	chr9.hg19:g.138662175C>T	ENSP00000263604:p.Arg532Cys	0					KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C	p.R532C			0	0	0	1.937903	Q5JUK3	KCNT1_HUMAN		17	1594	+		Myeloproliferative disorder(178;0.0821)	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	1	1	hg19	c.1594C>T		1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583234	0.65992	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.24	3.25	0.37280	4.24	3.25	0.37280	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.882;0.997;0.997	P;B;P;P	0.61658	0.892;0.418;0.827;0.892	T	0.56007	-0.8050	10	0.87932	D	0	-16.3187	7.8272	0.29322	0.2883:0.5633:0.1484:0.0	.	518;551;506;532	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	506;551;551;512;518;532;532;532	ENSP00000417851:R506C;ENSP00000298480:R551C;ENSP00000360822:R551C;ENSP00000263604:R532C	ENSP00000263604:R532C	R	+	1	0	0	KCNT1	137801996	137801996	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.689000	0.37700	1.923000	0.55706	0.585000	0.79938	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-2.453490	0	0.170000	NM_020822			63	62		279	275	1		1	0		0	0	71	0		1	0	0	0	0	1	0	63	279
KCNT1	57582	broad.mit.edu	37	9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000263604.3	+	21	2446	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	816					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657																																						ENST00000263604.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2446-2448)Gtg>Atg		potassium channel, subfamily T, member 1							61.0	52.0	55.0					9																	138669337		2203	4300	6503	SO:0001583	missense	57582	1	121406	24				g.chr9:138669337G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2446G>A	chr9.hg19:g.138669337G>A	ENSP00000263604:p.Val816Met	0					KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M	p.V816M			0	0	0	1.937903	Q5JUK3	KCNT1_HUMAN		21	2446	+		Myeloproliferative disorder(178;0.0821)	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	1	1	hg19	c.2446G>A		1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886606	0.51908	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.37	4.37	0.52481	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.82116	0.4967	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;P	0.58268	0.97;0.97;0.982;0.881	B;B;P;B	0.45794	0.298;0.393;0.493;0.221	D	0.86747	0.1958	10	0.72032	D	0.01	-15.4357	16.9291	0.86184	0.0:0.0:1.0:0.0	.	802;835;790;816	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	790;835;835;794;802;816;814;816	ENSP00000417851:V790M;ENSP00000298480:V835M;ENSP00000360822:V835M;ENSP00000263604:V816M	ENSP00000263604:V816M	V	+	1	0	0	KCNT1	137809158	137809158	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.639000	0.98448	1.971000	0.57363	0.555000	0.69702	GTG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_020822			46	46		194	192	1		1	0		0	0	50	0		1	3.836343e-02	0	0	0	2	0	46	194
CAMSAP1	157922	broad.mit.edu	37	9	138712706	138712706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1267					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)			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)		AGCCGACCCCCGGCTTCTGGT	0.572																																						ENST00000389532.4	0.710000	0.270000	5.900000e-01	3.500000e-01	0.460000	0.481371	0.460000	0.460000																										0				47						c.(3799-3801)ccG>ccA		calmodulin regulated spectrin-associated protein 1							43.0	47.0	45.0					9																	138712706		2203	4300	6503	SO:0001819	synonymous_variant	157922	0	0					g.chr9:138712706C>T	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.3801G>A	chr9.hg19:g.138712706C>T		0					CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000483991.1_5'UTR	p.P1267P	NM_015447.3	NP_056262.3	0	0	0	1.937903	Q5T5Y3	CAMP1_HUMAN		11	3865	-			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	1	1	hg19	c.3801G>A	CCDS35176.2	0																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.623266	1	0.170000	XM_351857			15	15		356	348	0		1	0		0	0	61	0		9.998570e-01	5.884711e-01	0	1	0	46	0	15	356
CAMSAP1	157922	broad.mit.edu	37	9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666					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)			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)		GGTCCTGTCTCGGTGGGGTCG	0.582																																						ENST00000389532.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				47						c.(1996-1998)Gag>Aag		calmodulin regulated spectrin-associated protein 1							47.0	50.0	49.0					9																	138714511		2203	4300	6503	SO:0001583	missense	157922	0	0					g.chr9:138714511C>T	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.1996G>A	chr9.hg19:g.138714511C>T	ENSP00000374183:p.Glu666Lys	0					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K|CAMSAP1_ENST00000483991.1_5'UTR	p.E666K	NM_015447.3	NP_056262.3	0	0	0	1.937903	Q5T5Y3	CAMP1_HUMAN		11	2060	-			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	1	1	hg19	c.1996G>A	CCDS35176.2	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304212	0.60305	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14640	2.5;2.49;2.5	5.17	5.17	0.71159	5.17	5.17	0.71159	.	1.161590	0.06569	N	0.748121	T	0.12774	0.0310	N	0.22421	0.69	0.51233	D	0.999914	P;P	0.48230	0.85;0.907	B;B	0.34652	0.125;0.187	T	0.47947	-0.9077	10	0.87932	D	0	-4.9181	18.6807	0.91545	0.0:1.0:0.0:0.0	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	666;388;677	ENSP00000374183:E666K;ENSP00000312463:E388K;ENSP00000386420:E677K	ENSP00000312463:E388K	E	-	1	0	0	CAMSAP1	137854332	137854332	0.998000	0.40836	0.191000	0.23289	0.004000	0.04260	5.019000	0.64060	2.403000	0.81681	0.655000	0.94253	GAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	XM_351857			38	38		164	160	1		1	1		0	0	49	0		1	9.997865e-01	0	12	0	47	0	38	164
CAMSAP1	157922	broad.mit.edu	37	9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	561					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)			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)		GGGTGAGGCCCTGGGGAACTC	0.567																																						ENST00000389532.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(1681-1683)aGg>aTg		calmodulin regulated spectrin-associated protein 1							133.0	147.0	142.0					9																	138714825		2203	4300	6503	SO:0001583	missense	157922	0	0					g.chr9:138714825C>A	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.1682G>T	chr9.hg19:g.138714825C>A	ENSP00000374183:p.Arg561Met	0					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000483991.1_5'UTR	p.R561M	NM_015447.3	NP_056262.3	0	0	0	1.937903	Q5T5Y3	CAMP1_HUMAN		11	1746	-			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	1	1	hg19	c.1682G>T	CCDS35176.2	1	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549591	0.13374	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	3.66	3.66	0.41972	3.66	3.66	0.41972	.	0.749151	0.12663	N	0.449442	T	0.16257	0.0391	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.79;0.944	B;P	0.47981	0.365;0.563	T	0.08166	-1.0735	10	0.87932	D	0	-38.7949	9.8064	0.40795	0.0:0.8848:0.0:0.1152	.	561;572	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	561;283;572	ENSP00000374183:R561M;ENSP00000312463:R283M;ENSP00000386420:R572M	ENSP00000312463:R283M	R	-	2	0	0	CAMSAP1	137854646	137854646	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	1.419000	0.34793	1.575000	0.49775	0.655000	0.94253	AGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	0	0	1		20	3	2	1		1	1	183		183	182	1	2.060000	-20.000000	1	0.170000	XM_351857			154	150		928	919	1		1	1		1	0	183	0		1	9.864762e-01	0	18	0	35	0	154	928
NACC2	138151	broad.mit.edu	37	9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000277554.2_Missense_Mutation_p.T388M|NACC2_ENST00000467669.1_5'Flank			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667																																						ENST00000371753.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1162-1164)aCg>aTg		NACC family member 2, BEN and BTB (POZ) domain containing							43.0	47.0	46.0					9																	138905137		2202	4296	6498	SO:0001583	missense	138151	0	0					g.chr9:138905137G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1163C>T	chr9.hg19:g.138905137G>A	ENSP00000360818:p.Thr388Met	0					NACC2_ENST00000467669.1_5'Flank|NACC2_ENST00000277554.2_Missense_Mutation_p.T388M	p.T388M			0	0	0	1.937903	Q96BF6	NACC2_HUMAN		4	1221	-				Missense_Mutation	SNP	ENST00000371753.1	1	1	hg19	c.1163C>T	CCDS6993.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600576	0.87055	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	5.65	5.65	0.86999	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.61525	-0.7045	10	0.66056	D	0.02	.	18.7284	0.91724	0.0:0.0:1.0:0.0	.	388	Q96BF6	NACC2_HUMAN	M	388	ENSP00000360818:T388M;ENSP00000277554:T388M	ENSP00000277554:T388M	T	-	2	0	0	NACC2	138044958	138044958	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	9.618000	0.98365	2.670000	0.90874	0.655000	0.94253	ACG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000	NM_144653			74	73		338	331	0		1	1		0	0	48	0		1	9.976190e-01	0	5	0	39	0	74	338
C9orf69	90120	broad.mit.edu	37	9	139008678	139008678	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	ENST00000418388.1	-	2	571	c.69G>A	c.(67-69)gcG>gcA	p.A23A	C9orf69_ENST00000561457.1_Missense_Mutation_p.R48Q			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	23					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCCGCAGGCCGCATGCAGGC	0.701																																						ENST00000418388.1	1.000000	0.860000	1	9.900000e-01	0.990000	0.991322	0.990000	1.000000																										0				1						c.(67-69)gcG>gcA		chromosome 9 open reading frame 69							29.0	33.0	32.0					9																	139008678		1931	4095	6026	SO:0001819	synonymous_variant	90120	0	0					g.chr9:139008678C>T		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.69G>A	chr9.hg19:g.139008678C>T		0					C9orf69_ENST00000561457.1_Missense_Mutation_p.R48Q	p.A23A			0	0	0	1.937903	H0YL14	CI069_HUMAN		2	571	-		Myeloproliferative disorder(178;0.0511)		Silent	SNP	ENST00000418388.1	0	1	hg19	c.69G>A	CCDS59155.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	0	0	1		2	2	2	0		0	0	21		21	18	1	2.060000	-20.000000	1	0.170000	NM_152833			19	18		135	125	0		1	1		0	0	21	0		9.999874e-01	7.031931e-01	0	6	0	13	0	19	135
LHX3	8022	broad.mit.edu	37	9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371748.5	-	4	656	c.560G>A	c.(559-561)cGc>cAc	p.R187H	LHX3_ENST00000371746.3_Missense_Mutation_p.R192H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	187					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726																																						ENST00000371748.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998158	0.990000	1.000000																										0				8						c.(559-561)cGc>cAc		LIM homeobox 3							15.0	17.0	16.0					9																	139090800		2188	4278	6466	SO:0001583	missense	8022	0	0					g.chr9:139090800C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.560G>A	chr9.hg19:g.139090800C>T	ENSP00000360813:p.Arg187His	0					LHX3_ENST00000371746.3_Missense_Mutation_p.R192H	p.R187H	NM_178138.4	NP_835258.1	0	0	0	1.937903	Q9UBR4	LHX3_HUMAN		4	656	-		Myeloproliferative disorder(178;0.0511)	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	0	1	hg19	c.560G>A	CCDS6994.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.323870	0.95708	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.97529	-4.42;-4.41	3.81	3.81	0.43845	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068967	0.64402	D	0.000012	D	0.99064	0.9679	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98847	1.0757	10	0.87932	D	0	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	187;192	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	187;192;190	ENSP00000360813:R187H;ENSP00000360811:R192H	ENSP00000319224:R190H	R	-	2	0	0	LHX3	138230621	138230621	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.084000	0.76866	1.959000	0.56917	0.555000	0.69702	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.726	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000				15	15		69	68	0		1			0	0	9	0		9.999168e-01	0	0	0	0	0	0	15	69
LHX3	8022	broad.mit.edu	37	9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371748.5	-	3	417	c.321G>T	c.(319-321)caG>caT	p.Q107H	LHX3_ENST00000371746.3_Missense_Mutation_p.Q112H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	107	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706																																						ENST00000371748.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000																										0				8						c.(319-321)caG>caT		LIM homeobox 3							24.0	21.0	22.0					9																	139091657		2202	4298	6500	SO:0001583	missense	8022	0	0					g.chr9:139091657C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.321G>T	chr9.hg19:g.139091657C>A	ENSP00000360813:p.Gln107His	0					LHX3_ENST00000371746.3_Missense_Mutation_p.Q112H	p.Q107H	NM_178138.4	NP_835258.1	0	0	0	1.937903	Q9UBR4	LHX3_HUMAN		3	417	-		Myeloproliferative disorder(178;0.0511)	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	1	1	hg19	c.321G>T	CCDS6994.1	1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348179	0.61183	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.35	2.34	0.29019	4.35	2.34	0.29019	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	L	0.46670	1.46	0.80722	D	1	D;B	0.76494	0.999;0.094	D;B	0.71870	0.975;0.193	D	0.88054	0.2789	10	0.52906	T	0.07	.	10.3249	0.43787	0.0:0.8094:0.0:0.1906	.	107;112	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	107;112;110	ENSP00000360813:Q107H;ENSP00000360811:Q112H	ENSP00000319224:Q110H	Q	-	3	2	2	LHX3	138231478	138231478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.773000	0.38563	1.063000	0.40649	-0.221000	0.12465	CAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000				25	24		109	108	1		1			0	0	19	0		9.999999e-01	0	0	0	0	0	0	25	109
QSOX2	169714	broad.mit.edu	37	9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	573					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572																																						ENST00000358701.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1717-1719)Gca>Aca		quiescin Q6 sulfhydryl oxidase 2							92.0	89.0	90.0					9																	139100954		2203	4300	6503	SO:0001583	missense	169714	1	121412	36				g.chr9:139100954C>T	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1717G>A	chr9.hg19:g.139100954C>T	ENSP00000351536:p.Ala573Thr	0						p.A573T	NM_181701.3	NP_859052.3	0	0	0	1.937903	Q6ZRP7	QSOX2_HUMAN		12	1754	-		Myeloproliferative disorder(178;0.0511)	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	1	1	hg19	c.1717G>A	CCDS35178.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850954	0.51270	.	.	ENSG00000165661	ENST00000358701	T	0.17054	2.3	4.91	4.91	0.64330	4.91	4.91	0.64330	.	1.152020	0.06417	N	0.721648	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	P	0.44006	0.824	B	0.25405	0.06	T	0.36359	-0.9751	10	0.09843	T	0.71	-2.7184	17.1404	0.86752	0.0:1.0:0.0:0.0	.	573	Q6ZRP7	QSOX2_HUMAN	T	573	ENSP00000351536:A573T	ENSP00000351536:A573T	A	-	1	0	0	QSOX2	138240775	138240775	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.791000	0.26915	2.258000	0.74832	0.558000	0.71614	GCA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	1	0	1		2	2	2	0		0	0	95		95	93	1	2.060000	-20.000000	1	0.170000	NM_181701			78	77		381	379	1		1	1		0	0	95	0		1	9.980669e-01	0	7	0	41	0	78	381
GPSM1	26086	broad.mit.edu	37	9	139229123	139229123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000440944.1	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000392945.3_Silent_p.A96A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	96	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682																																						ENST00000440944.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999806	0.990000	1.000000																										0				9						c.(286-288)gcG>gcA		G-protein signaling modulator 1							37.0	36.0	36.0					9																	139229123		2203	4300	6503	SO:0001819	synonymous_variant	26086	0	0					g.chr9:139229123G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.288G>A	chr9.hg19:g.139229123G>A		0					GPSM1_ENST00000392945.3_Silent_p.A96A	p.A96A	NM_001145638.1	NP_001139110	0	0	0	1.937903	Q86YR5	GPSM1_HUMAN		2	508	+		Myeloproliferative disorder(178;0.0821)	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	1	1	hg19	c.288G>A	CCDS48055.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_015597			40	39		250	245	1		1	1		0	0	38	0		1	9.707347e-01	0	8	0	30	0	40	250
GPSM1	26086	broad.mit.edu	37	9	139233060	139233060	+	Silent	SNP	G	G	A	rs140857825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139233060G>A	ENST00000440944.1	+	7	1087	c.867G>A	c.(865-867)gcG>gcA	p.A289A	GPSM1_ENST00000392945.3_Silent_p.A289A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	289	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CAGTGGAGGCGCAGGCCTGCT	0.672																																						ENST00000440944.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998266	0.990000	1.000000																										0				9						c.(865-867)gcG>gcA		G-protein signaling modulator 1		G	,	0,4388		0,0,2194	42.0	35.0	38.0		867,867	-8.8	0.4	9	dbSNP_134	38	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	GPSM1	NM_001145638.1,NM_015597.4	,	0,1,6481	AA,AG,GG		0.0117,0.0,0.0077	,	289/676,289/458	139233060	1,12963	2194	4288	6482	SO:0001819	synonymous_variant	26086	6	120538	37				g.chr9:139233060G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.867G>A	chr9.hg19:g.139233060G>A		0					GPSM1_ENST00000392945.3_Silent_p.A289A	p.A289A	NM_001145638.1	NP_001139110	0	0	0	1.937903	Q86YR5	GPSM1_HUMAN		7	1087	+		Myeloproliferative disorder(178;0.0821)	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	1	0	hg19	c.867G>A	CCDS48055.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_015597			15	15		68	68	1		1	1		0	0	16	0		9.999249e-01	9.149350e-01	0	4	0	18	0	15	68
GPSM1	26086	broad.mit.edu	37	9	139243186	139243186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	415	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677																																						ENST00000440944.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999903	0.990000	1.000000																										0				9						c.(1243-1245)gaG>gaA		G-protein signaling modulator 1							49.0	48.0	48.0					9																	139243186		2198	4299	6497	SO:0001819	synonymous_variant	26086	0	0					g.chr9:139243186G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1245G>A	chr9.hg19:g.139243186G>A		0						p.E415E	NM_001145638.1	NP_001139110	0	0	0	1.937903	Q86YR5	GPSM1_HUMAN		10	1465	+		Myeloproliferative disorder(178;0.0821)	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	1	1	hg19	c.1245G>A	CCDS48055.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_015597			25	25		108	109	1		1	1		0	0	25	0		9.999999e-01	9.296764e-01	0	7	0	15	0	25	108
DNLZ	728489	broad.mit.edu	37	9	139256578	139256578	+	Silent	SNP	G	G	A	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371738.3	-	3	497	c.423C>T	c.(421-423)ggC>ggT	p.G141G	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_Nonsense_Mutation_p.R95*	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	141						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682																																						ENST00000371738.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998766	0.990000	1.000000																										0				2						c.(421-423)ggC>ggT		DNL-type zinc finger		G		1,4391		0,1,2195	21.0	27.0	25.0		423	-3.8	0.0	9	dbSNP_134	25	0,8588		0,0,4294	no	coding-synonymous	DNLZ	NM_001080849.1		0,1,6489	AA,AG,GG		0.0,0.0228,0.0077		141/179	139256578	1,12979	2196	4294	6490	SO:0001819	synonymous_variant	728489	1	121238	30				g.chr9:139256578G>A	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.423C>T	chr9.hg19:g.139256578G>A		0					DNLZ_ENST00000371739.3_Nonsense_Mutation_p.R95*|CARD9_ENST00000460290.1_5'Flank	p.G141G	NM_001080849.1	NP_001074318.1	0	0	0	1.937903	Q5SXM8	DNLZ_HUMAN		3	497	-		Myeloproliferative disorder(178;0.0821)	B2RUX5|B9EJE1	Silent	SNP	ENST00000371738.3	0	1	hg19	c.423C>T	CCDS35179.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014166	0.35511	2.28E-4	0.0	ENSG00000213221	ENST00000371739	.	.	.	4.15	-3.84	0.04256	4.15	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.23043	N	0.998385	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0189	6.9767	0.24679	0.5466:0.2312:0.2222:0.0	.	.	.	.	X	95	.	ENSP00000360804:R95X	R	-	1	2	2	DNLZ	138376399	138376399	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.821000	0.00749	-0.993000	0.03467	0.491000	0.48974	CGA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-2.495165	0	0.170000	NM_001080849			27	27		170	168	0		1	1		0	0	37	0		1	9.999918e-01	0	26	0	95	0	27	170
CARD9	64170	broad.mit.edu	37	9	139262245	139262245	+	Silent	SNP	G	G	A	rs376357452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.H371H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	371					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706																																						ENST00000371732.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1111-1113)caC>caT		caspase recruitment domain family, member 9		G	,	2,4386	2.1+/-5.4	0,2,2192	30.0	27.0	28.0		1113,1113	-7.4	0.0	9		28	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6480	AA,AG,GG		0.0,0.0456,0.0154	,	371/537,371/493	139262245	2,12962	2194	4288	6482	SO:0001819	synonymous_variant	64170	7	120510	32				g.chr9:139262245G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1113C>T	chr9.hg19:g.139262245G>A		0					CARD9_ENST00000371734.3_Silent_p.H371H|CARD9_ENST00000460290.1_5'Flank	p.H371H	NM_052813.4	NP_434700.2	0	0	0	1.937903	Q9H257	CARD9_HUMAN		8	1278	-		Myeloproliferative disorder(178;0.0511)	Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	1	1	hg19	c.1113C>T	CCDS6997.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1		2	2	2	0		0	0	24		24	22	1	2.060000	-20.000000	1	0.170000	NM_052813			38	37		127	125	1		1	0		0	0	24	0		1	7.574978e-01	0	1	0	10	0	38	127
CARD9	64170	broad.mit.edu	37	9	139264220	139264220	+	Silent	SNP	G	G	A	rs371007197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Silent_p.V353V|CARD9_ENST00000371734.3_Silent_p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	353					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627																																						ENST00000371732.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998160	0.990000	1.000000																										0				15						c.(1057-1059)gtC>gtT		caspase recruitment domain family, member 9		G	,	2,4388	4.2+/-10.8	0,2,2193	106.0	70.0	82.0		1059,1059	-7.8	0.0	9		82	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6491	AA,AG,GG		0.0,0.0456,0.0154	,	353/537,353/493	139264220	2,12984	2195	4298	6493	SO:0001819	synonymous_variant	64170	5	120936	35				g.chr9:139264220G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1059C>T	chr9.hg19:g.139264220G>A		0					CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Silent_p.V353V	p.V353V	NM_052813.4	NP_434700.2	0	0	0	1.937903	Q9H257	CARD9_HUMAN		7	1224	-		Myeloproliferative disorder(178;0.0511)	Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	1	1	hg19	c.1059C>T	CCDS6997.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_052813			16	16		78	76	1		1	0		0	0	16	0		9.999529e-01	4.239208e-01	0	0	0	8	0	16	78
CARD9	64170	broad.mit.edu	37	9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D|CARD9_ENST00000371734.3_Missense_Mutation_p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	259					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711																																						ENST00000371732.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998059	0.990000	1.000000																										0				15						c.(775-777)gCc>gAc		caspase recruitment domain family, member 9							17.0	16.0	17.0					9																	139265005		2189	4294	6483	SO:0001583	missense	64170	0	0					g.chr9:139265005G>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.776C>A	chr9.hg19:g.139265005G>T	ENSP00000360797:p.Ala259Asp	0					CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D	p.A259D	NM_052813.4	NP_434700.2	0	0	0	1.937903	Q9H257	CARD9_HUMAN		5	941	-		Myeloproliferative disorder(178;0.0511)	Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	1	1	hg19	c.776C>A	CCDS6997.1	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931385	0.52866	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33865	1.39;1.39;1.39	3.4	3.4	0.38934	3.4	3.4	0.38934	.	0.156398	0.41396	D	0.000893	T	0.55878	0.1948	M	0.72894	2.215	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.988	T	0.55522	-0.8128	10	0.28530	T	0.3	-27.2828	14.3098	0.66407	0.0:0.0:1.0:0.0	.	155;259;259	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	D	259	ENSP00000360799:A259D;ENSP00000360797:A259D;ENSP00000323719:A259D	ENSP00000323719:A259D	A	-	2	0	0	CARD9	138384826	138384826	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	4.611000	0.61162	1.894000	0.54839	0.467000	0.42956	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_052813			18	18		97	96	0		1	0		0	0	20	0		9.999885e-01	7.040499e-01	0	0	0	15	0	18	97
SNAPC4	6621	broad.mit.edu	37	9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592																																						ENST00000298532.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(988-990)Gcc>Acc		small nuclear RNA activating complex, polypeptide 4, 190kDa							103.0	88.0	93.0					9																	139283031		2203	4300	6503	SO:0001583	missense	6621	1	121412	30				g.chr9:139283031C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.988G>A	chr9.hg19:g.139283031C>T	ENSP00000298532:p.Ala330Thr	0						p.A330T	NM_003086.2	NP_003077.2	0	0	0	1.937903				10	1356	-		Myeloproliferative disorder(178;0.0511)		Missense_Mutation	SNP	ENST00000298532.2	1	1	hg19	c.988G>A	CCDS6998.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653575	0.67472	.	.	ENSG00000165684	ENST00000298532	T	0.32515	1.45	5.0	4.04	0.47022	5.0	4.04	0.47022	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.118118	0.56097	D	0.000036	T	0.57388	0.2050	M	0.83483	2.645	0.42751	D	0.99377	D	0.89917	1.0	D	0.80764	0.994	T	0.65034	-0.6266	10	0.66056	D	0.02	-27.2109	14.2545	0.66043	0.0:0.7444:0.2556:0.0	.	330	Q5SXM2	SNPC4_HUMAN	T	330	ENSP00000298532:A330T	ENSP00000298532:A330T	A	-	1	0	0	SNAPC4	138402852	138402852	0.971000	0.33674	0.996000	0.52242	0.564000	0.35744	2.302000	0.43637	2.327000	0.79052	0.561000	0.74099	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_003086			75	72		331	325	1		1	0		0	0	85	0		1	3.822986e-01	0	1	0	6	0	75	331
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T	rs372524659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662																																						ENST00000298532.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999897	0.990000	1.000000																										0				33						c.(937-939)Ggc>Agc		small nuclear RNA activating complex, polypeptide 4, 190kDa		C	SER/GLY	0,4406		0,0,2203	58.0	57.0	57.0		937	4.3	1.0	9		57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC4	NM_003086.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	313/1470	139286432	1,13003	2203	4299	6502	SO:0001583	missense	6621	7	121410	39				g.chr9:139286432C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.937G>A	chr9.hg19:g.139286432C>T	ENSP00000298532:p.Gly313Ser	0						p.G313S	NM_003086.2	NP_003077.2	0	0	0	1.937903				9	1305	-		Myeloproliferative disorder(178;0.0511)		Missense_Mutation	SNP	ENST00000298532.2	1	1	hg19	c.937G>A	CCDS6998.1	1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241696	0.39598	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.27890	1.64	5.35	4.34	0.51931	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.30262	0.0759	M	0.69185	2.1	0.26832	N	0.968556	D	0.55172	0.97	B	0.42738	0.396	T	0.40515	-0.9559	10	0.59425	D	0.04	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	S	313	ENSP00000298532:G313S	ENSP00000298532:G313S	G	-	1	0	0	SNAPC4	138406253	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.318847	1	0.170000	NM_003086			54	54		360	358	1		1	1		0	0	78	0		1	8.196891e-01	0	5	0	18	0	54	360
PMPCA	23203	broad.mit.edu	37	9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	149					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562																																						ENST00000371717.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(445-447)Acc>Gcc		peptidase (mitochondrial processing) alpha							160.0	146.0	151.0					9																	139309012		2203	4300	6503	SO:0001583	missense	23203	0	0					g.chr9:139309012A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.445A>G	chr9.hg19:g.139309012A>G	ENSP00000360782:p.Thr149Ala	0					PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	p.T149A	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	0	0	0	1.937903	Q10713	MPPA_HUMAN		5	454	+		Myeloproliferative disorder(178;0.0821)	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	1	1	hg19	c.445A>G	CCDS35180.1	1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309660	0.60414	.	.	ENSG00000165688	ENST00000371717	T	0.24908	1.83	5.53	5.53	0.82687	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050174	0.85682	D	0.000000	T	0.34832	0.0911	M	0.77486	2.375	0.80722	D	1	B;B;B	0.26318	0.146;0.057;0.057	B;B;B	0.29663	0.105;0.042;0.042	T	0.15896	-1.0421	10	0.51188	T	0.08	.	14.8413	0.70226	1.0:0.0:0.0:0.0	.	149;149;149	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	A	149	ENSP00000360782:T149A	ENSP00000360782:T149A	T	+	1	0	0	PMPCA	138428833	138428833	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.922000	0.92789	2.084000	0.62774	0.528000	0.53228	ACC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_015160			93	92		405	396	1		1	1		0	0	117	0		1	1	0	28	0	96	0	93	405
PMPCA	23203	broad.mit.edu	37	9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	397					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCAGCGCCGACCCAAGACAG	0.652																																						ENST00000371717.3	0.760000	0.220000	6.000000e-01	3.100000e-01	0.440000	0.465153	0.440000	0.420000																										0				14						c.(1189-1191)gAc>gGc		peptidase (mitochondrial processing) alpha							60.0	50.0	54.0					9																	139313360		2203	4300	6503	SO:0001583	missense	23203	0	0					g.chr9:139313360A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1190A>G	chr9.hg19:g.139313360A>G	ENSP00000360782:p.Asp397Gly	0					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	p.D397G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	0	0	0	1.937903	Q10713	MPPA_HUMAN		10	1199	+		Myeloproliferative disorder(178;0.0821)	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	1	1	hg19	c.1190A>G	CCDS35180.1	0	.	.	.	.	.	.	.	.	.	.	a	12.48	1.949759	0.34377	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09445	2.98;2.98;2.98	5.2	5.2	0.72013	5.2	5.2	0.72013	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.042704	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.32968	0.12;0.025;0.392;0.025	B;B;B;B	0.33960	0.126;0.056;0.173;0.056	T	0.26360	-1.0105	10	0.24483	T	0.36	.	14.2719	0.66157	1.0:0.0:0.0:0.0	.	266;397;105;397	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	G	397;266;105	ENSP00000360782:D397G;ENSP00000416702:D266G;ENSP00000408393:D105G	ENSP00000360782:D397G	D	+	2	0	0	PMPCA	138433181	138433181	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	7.014000	0.76380	1.964000	0.57103	0.529000	0.55759	GAC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	0	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-11.518070	1	0.170000	NM_015160			9	9		228	224	0		1	1		0	0	52	0		9.940274e-01	9.591533e-01	0	5	0	138	0	9	228
INPP5E	56623	broad.mit.edu	37	9	139324245	139324245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139324245G>T	ENST00000371712.3	-	10	2219	c.1817C>A	c.(1816-1818)gCt>gAt	p.A606D		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAATTTGCCAGCTGCCAACGG	0.582																																						ENST00000371712.3	0.620000	0.190000	5.000000e-01	2.700000e-01	0.370000	0.389494	0.370000	0.360000																										0				9						c.(1816-1818)gCt>gAt		inositol polyphosphate-5-phosphatase, 72 kDa							78.0	81.0	80.0					9																	139324245		2203	4300	6503	SO:0001583	missense	56623	0	0					g.chr9:139324245G>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1817C>A	chr9.hg19:g.139324245G>T	ENSP00000360777:p.Ala606Asp	0						p.A606D	NM_019892.4	NP_063945.2	0	0	0	1.937903	Q10713	MPPA_HUMAN		10	2219	-		Myeloproliferative disorder(178;0.0511)	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	1	1	hg19	c.1817C>A	CCDS7000.1	0	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511380	0.85389	.	.	ENSG00000148384	ENST00000371712	D	0.97941	-4.62	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.935	D	0.99466	1.0944	10	0.72032	D	0.01	-15.3769	16.6228	0.84934	0.0:0.0:1.0:0.0	.	572;606	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	D	606	ENSP00000360777:A606D	ENSP00000360777:A606D	A	-	2	0	0	INPP5E	138444066	138444066	1.000000	0.71417	0.920000	0.36463	0.744000	0.42396	8.104000	0.89551	2.599000	0.87857	0.651000	0.88453	GCT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-10.640320	1	0.170000	NM_019892			10	10		304	298	0		1	1		0	0	58	0		9.966946e-01	5.169398e-01	0	3	0	48	0	10	304
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	C	T	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617																																						ENST00000371712.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(1624-1626)acG>acA		inositol polyphosphate-5-phosphatase, 72 kDa		C		0,4406		0,0,2203	245.0	153.0	184.0		1626	-0.8	1.0	9	dbSNP_134	184	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	INPP5E	NM_019892.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		542/645	139325493	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56623	9	121358	39				g.chr9:139325493C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1626G>A	chr9.hg19:g.139325493C>T		0						p.T542T	NM_019892.4	NP_063945.2	0	0	0	1.937903	Q10713	MPPA_HUMAN		8	2028	-		Myeloproliferative disorder(178;0.0511)	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	1	1	hg19	c.1626G>A	CCDS7000.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-20.000000	1	0.170000	NM_019892			48	47		203	202	1		1	1	0	0	0	39	0		1	9.985887e-01	0	9	0	36	1	48	203
INPP5E	56623	broad.mit.edu	37	9	139333311	139333311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	ENST00000371712.3	-	1	963	c.561C>T	c.(559-561)agC>agT	p.S187S	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGCAGCAGGCTGGGCAGCC	0.697																																						ENST00000371712.3	1.000000	0.840000	1	9.900000e-01	0.990000	0.990611	0.990000	1.000000																										0				9						c.(559-561)agC>agT		inositol polyphosphate-5-phosphatase, 72 kDa							10.0	12.0	11.0					9																	139333311		2173	4270	6443	SO:0001819	synonymous_variant	56623	0	0					g.chr9:139333311G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.561C>T	chr9.hg19:g.139333311G>A		0					SEC16A_ENST00000467838.1_5'Flank	p.S187S	NM_019892.4	NP_063945.2	0	0	0	1.937903	Q10713	MPPA_HUMAN		1	963	-		Myeloproliferative disorder(178;0.0511)	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	0	1	hg19	c.561C>T	CCDS7000.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	0	0	1		2	2	2	0		0	0	17		17	16	1	2.060000	-19.997930	1	0.170000	NM_019892			13	12		79	77	0		1	1		0	0	17	0		9.995846e-01	1.665738e-01	0	4	0	1	0	13	79
SEC16A	9919	broad.mit.edu	37	9	139341761	139341761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000371706.3	-	25	6114	c.6081C>T	c.(6079-6081)agC>agT	p.S2027S	SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000431893.2_Silent_p.S2027S|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313050.7_Silent_p.S2205S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2027	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617																																						ENST00000371706.3	1.000000	0.330000	1	5.700000e-01	0.900000	0.823050	0.900000	1.000000																										0				51						c.(6079-6081)agC>agT		SEC16 homolog A (S. cerevisiae)							16.0	22.0	20.0					9																	139341761		1995	4146	6141	SO:0001819	synonymous_variant	9919	0	0					g.chr9:139341761G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6081C>T	chr9.hg19:g.139341761G>A		0					SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313050.7_Silent_p.S2205S	p.S2027S			0	0	0	1.937903	O15027	SC16A_HUMAN		25	6114	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	0	1	hg19	c.6081C>T		1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180962	0.09443	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-9.11	0.00711	5.26	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.32196	N	0.578475	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8904	4.3182	0.11003	0.5247:0.0934:0.29:0.092	.	.	.	.	X	335	.	.	R	-	1	2	2	SEC16A	138461582	138461582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.912000	0.01582	-1.771000	0.01293	-1.804000	0.00617	CGA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-9.063190	1	0.170000	XM_088459			4	4		45	43	1		1	1		0	0	14	0		8.831455e-01	9.974418e-01	0	28	0	142	0	4	45
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	C	T	rs370873951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000371706.3	-	10	4338	c.4305G>A	c.(4303-4305)tcG>tcA	p.S1435S	SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.001					ENST00000371706.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(4303-4305)tcG>tcA		SEC16 homolog A (S. cerevisiae)		C		0,4076		0,0,2038	46.0	55.0	52.0		4839	-9.6	0.0	9		52	1,8353		0,1,4176	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6214	TT,TC,CC		0.012,0.0,0.0080		1613/2358	139357393	1,12429	2038	4177	6215	SO:0001819	synonymous_variant	9919	6	120934	40				g.chr9:139357393C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4305G>A	chr9.hg19:g.139357393C>T		0					SEC16A_ENST00000431893.2_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S	p.S1435S			0	0	0	1.937903	O15027	SC16A_HUMAN		10	4338	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	1	1	hg19	c.4305G>A		1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.375052	1	0.170000	XM_088459			67	65		315	304	1		1	1		0	0	69	0		1	1	0	46	0	78	0	67	315
SEC16A	9919	broad.mit.edu	37	9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000371706.3	-	1	2676	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	881					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587																																						ENST00000371706.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				51						c.(2641-2643)caG>caT		SEC16 homolog A (S. cerevisiae)							29.0	31.0	30.0					9																	139368891		1916	4131	6047	SO:0001583	missense	9919	0	0					g.chr9:139368891C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2643G>T	chr9.hg19:g.139368891C>A	ENSP00000360771:p.Gln881His	0					SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H	p.Q881H			0	0	0	1.937903	O15027	SC16A_HUMAN		1	2676	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	1	1	hg19	c.2643G>T		1	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379383	0.11466	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	0.515	0.17013	5.54	0.515	0.17013	.	0.696041	0.14138	N	0.338891	T	0.22085	0.0532	M	0.62723	1.935	0.40474	D	0.98037	B;B;B;B	0.16802	0.011;0.019;0.019;0.011	B;B;B;B	0.18561	0.01;0.022;0.022;0.005	T	0.05632	-1.0873	10	0.27082	T	0.32	-0.2317	5.8162	0.18494	0.0:0.4446:0.2851:0.2704	.	1059;881;881;449	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1059;881;881;881;449	ENSP00000325827:Q1059H;ENSP00000360771:Q881H;ENSP00000290037:Q881H;ENSP00000387583:Q881H	ENSP00000290037:Q881H	Q	-	3	2	2	SEC16A	138488712	138488712	0.213000	0.23551	0.271000	0.24616	0.029000	0.11900	-0.129000	0.10515	-0.077000	0.12752	-0.136000	0.14681	CAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000	XM_088459			39	39		150	148	1		1	1		0	0	42	0		1	9.999998e-01	0	36	0	64	0	39	150
SEC16A	9919	broad.mit.edu	37	9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000371706.3	-	1	557	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	175					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602																																						ENST00000371706.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000																										0				51						c.(523-525)gCt>gAt		SEC16 homolog A (S. cerevisiae)							16.0	17.0	17.0					9																	139371010		1844	4088	5932	SO:0001583	missense	9919	0	0					g.chr9:139371010G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.524C>A	chr9.hg19:g.139371010G>T	ENSP00000360771:p.Ala175Asp	0					SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D|SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D	p.A175D			0	0	0	1.937903	O15027	SC16A_HUMAN		1	557	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	1	1	hg19	c.524C>A		1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628865	0.67015	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26518	1.73;1.73;1.73;1.74	5.21	4.31	0.51392	5.21	4.31	0.51392	.	0.471361	0.19691	N	0.108264	T	0.38665	0.1049	M	0.65975	2.015	0.58432	D	0.999997	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.52856	0.518;0.711;0.711	T	0.13176	-1.0519	10	0.28530	T	0.3	-4.6305	13.4519	0.61176	0.0763:0.0:0.9237:0.0	.	353;175;175	F1T0I1;O15027-5;O15027-4	.;.;.	D	353;175;175;175	ENSP00000325827:A353D;ENSP00000360771:A175D;ENSP00000290037:A175D;ENSP00000387583:A175D	ENSP00000290037:A175D	A	-	2	0	0	SEC16A	138490831	138490831	0.018000	0.18449	0.008000	0.14137	0.032000	0.12392	1.957000	0.40392	1.326000	0.45319	0.655000	0.94253	GCT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-20.000000	1	0.170000	XM_088459			27	27		104	102	1		1	1		0	0	21	0		1	9.999949e-01	0	26	0	56	0	27	104
SEC16A	9919	broad.mit.edu	37	9	139371882	139371882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371882G>A	ENST00000313050.7	-	1	259	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTGTACTTTGGAGCGCCTGTC	0.562																																						ENST00000313050.7	0.660000	0.220000	5.400000e-01	3.100000e-01	0.410000	0.430889	0.410000	0.400000																										0				51						c.(184-186)ctC>ctT		SEC16 homolog A (S. cerevisiae)							64.0	67.0	66.0					9																	139371882		1970	4141	6111	SO:0001819	synonymous_variant	9919	0	0					g.chr9:139371882G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.186C>T	chr9.hg19:g.139371882G>A		0					SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank	p.L62L	NM_014866.1	NP_055681.1	0	0	0	1.937903	O15027	SC16A_HUMAN		1	259	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313050.7	1	1	hg19	c.186C>T	CCDS55351.1	0																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	88		88	89	1	2.060000	-3.248481	1	0.170000	XM_088459			12	13		324	317	0		1	1		0	0	88	0		9.990595e-01	8.362837e-01	0	6	0	85	0	12	324
NOTCH1	4851	broad.mit.edu	37	9	139390585	139390585	+	Missense_Mutation	SNP	C	C	T	rs111627256	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139390585C>T	ENST00000277541.6	-	34	7681	c.7606G>A	c.(7606-7608)Gtc>Atc	p.V2536I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2536					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)	p.V2537I(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGAGACGCCCTCGGAC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	6	0.00119808	0.0023	0.0029	5008	,	,		13229	0.0		0.001	False		,,,				2504	0.0					ENST00000277541.6	1.000000	0.230000	8.700000e-01	3.800000e-01	0.590000	0.623590	0.590000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		1	Substitution - Missense(1)	p.V2537I(1)	haematopoietic_and_lymphoid_tissue(1)	1359	GRCh37	CM083740	NOTCH1	M	rs111627256	c.(7606-7608)Gtc>Atc		notch 1		C	ILE/VAL	2,3982		0,2,1990	18.0	25.0	23.0		7606	0.9	1.0	9	dbSNP_132	23	3,8311		0,3,4154	yes	missense	NOTCH1	NM_017617.3	29	0,5,6144	TT,TC,CC		0.0361,0.0502,0.0407	benign	2536/2556	139390585	5,12293	1992	4157	6149	SO:0001583	missense	4851	40	119592	44				g.chr9:139390585C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7606G>A	chr9.hg19:g.139390585C>T	ENSP00000277541:p.Val2536Ile	0	HNSCC(8;0.001)					p.V2536I	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		34	7681	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	0	1	hg19	c.7606G>A	CCDS43905.1	0	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	2.729	-0.264917	0.05754	5.02E-4	3.61E-4	ENSG00000148400	ENST00000277541	T	0.74842	-0.88	4.83	0.936	0.19488	4.83	0.936	0.19488	Domain of unknown function DUF3454, notch (1);	0.110491	0.64402	N	0.000015	T	0.40815	0.1132	N	0.02765	-0.5	0.25400	N	0.988454	B	0.09022	0.002	B	0.09377	0.004	T	0.37314	-0.9711	10	0.02654	T	1	.	7.9967	0.30271	0.0:0.2534:0.0:0.7466	.	2536	P46531	NOTC1_HUMAN	I	2536	ENSP00000277541:V2536I	ENSP00000277541:V2536I	V	-	1	0	0	NOTCH1	138510406	138510406	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.703000	0.37846	-0.037000	0.13646	0.462000	0.41574	GTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-7.967021	1	0.170000	NM_017617			5	5		94	91	0		1	1		0	0	19	0		9.340646e-01	9.520361e-01	0	7	0	101	0	5	94
NOTCH1	4851	broad.mit.edu	37	9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2139					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGCAGAGCGGGGGCGAC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	0.780000	0.250000	6.300000e-01	3.500000e-01	0.470000	0.495560	0.470000	0.460000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(6415-6417)Ctc>Ttc		notch 1							20.0	24.0	22.0					9																	139391776		2079	4173	6252	SO:0001583	missense	4851	0	0					g.chr9:139391776G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6415C>T	chr9.hg19:g.139391776G>A	ENSP00000277541:p.Leu2139Phe	0	HNSCC(8;0.001)					p.L2139F	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		34	6490	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	1	1	hg19	c.6415C>T	CCDS43905.1	0	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468738	0.63625	.	.	ENSG00000148400	ENST00000277541	D	0.83075	-1.68	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.88716	0.3226	10	0.41790	T	0.15	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2139	P46531	NOTC1_HUMAN	F	2139	ENSP00000277541:L2139F	ENSP00000277541:L2139F	L	-	1	0	0	NOTCH1	138511597	138511597	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.280000	0.72626	2.703000	0.92315	0.561000	0.74099	CTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1		2	2	2	0		0	0	42		42	40	1	2.060000	-13.533530	1	0.170000	NM_017617			11	11		257	253	0		1	0		0	0	42	0		9.982922e-01	3.803004e-01	0	1	0	29	0	11	257
NOTCH1	4851	broad.mit.edu	37	9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2101					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCCTGTGCGATGTCGCGC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(6301-6303)Gca>Aca		notch 1							38.0	40.0	39.0					9																	139391890		2190	4275	6465	SO:0001583	missense	4851	0	0					g.chr9:139391890C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6301G>A	chr9.hg19:g.139391890C>T	ENSP00000277541:p.Ala2101Thr	0	HNSCC(8;0.001)					p.A2101T	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		34	6376	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	1	1	hg19	c.6301G>A	CCDS43905.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323403	0.81580	.	.	ENSG00000148400	ENST00000277541	T	0.74002	-0.8	5.42	5.42	0.78866	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.114264	0.64402	D	0.000015	D	0.87533	0.6201	M	0.90814	3.15	0.80722	D	1	D	0.63046	0.992	P	0.59221	0.854	D	0.89877	0.4027	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2101	P46531	NOTC1_HUMAN	T	2101	ENSP00000277541:A2101T	ENSP00000277541:A2101T	A	-	1	0	0	NOTCH1	138511711	138511711	1.000000	0.71417	0.585000	0.28666	0.317000	0.28152	5.899000	0.69846	2.703000	0.92315	0.561000	0.74099	GCA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_017617			66	66		277	274	1		1	1		0	0	71	0		1	9.986056e-01	0	7	0	37	0	66	277
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.998298	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(5650-5652)ccG>ccA		notch 1							12.0	15.0	14.0					9																	139395286		1987	4152	6139	SO:0001819	synonymous_variant	4851	1	120050	29				g.chr9:139395286C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5652G>A	chr9.hg19:g.139395286C>T		0	HNSCC(8;0.001)					p.P1884P	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		31	5727	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	1	1	hg19	c.5652G>A	CCDS43905.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_017617			24	24		149	146	0		1	1		0	0	24	0		9.999998e-01	9.881234e-01	0	4	0	43	0	24	149
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(5119-5121)Gcc>Acc		notch 1							47.0	58.0	54.0					9																	139397682		2122	4243	6365	SO:0001583	missense	4851	0	0					g.chr9:139397682C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5119G>A	chr9.hg19:g.139397682C>T	ENSP00000277541:p.Ala1707Thr	0	HNSCC(8;0.001)					p.A1707T	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		27	5194	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	1	1	hg19	c.5119G>A	CCDS43905.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238152	0.95240	.	.	ENSG00000148400	ENST00000277541	T	0.37058	1.22	4.81	4.81	0.61882	4.81	4.81	0.61882	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66356	-0.5944	10	0.52906	T	0.07	.	17.2014	0.86907	0.0:1.0:0.0:0.0	.	1707	P46531	NOTC1_HUMAN	T	1707	ENSP00000277541:A1707T	ENSP00000277541:A1707T	A	-	1	0	0	NOTCH1	138517503	138517503	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	5.777000	0.68931	2.376000	0.81061	0.561000	0.74099	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	0		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_017617			43	43		196	194	1		1	1		0	0	52	0		1	9.891082e-01	0	6	0	29	0	43	196
NOTCH1	4851	broad.mit.edu	37	9	139405693	139405693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	ENST00000277541.6	-	16	2573	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	833	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGGGGCACACGGGGCCAG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999961	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(2497-2499)tGt>tAt		notch 1							24.0	31.0	28.0					9																	139405693		2090	4197	6287	SO:0001583	missense	4851	0	0					g.chr9:139405693C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2498G>A	chr9.hg19:g.139405693C>T	ENSP00000277541:p.Cys833Tyr	0	HNSCC(8;0.001)					p.C833Y	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		16	2573	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	0	1	hg19	c.2498G>A	CCDS43905.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553725	0.86231	.	.	ENSG00000148400	ENST00000277541	D	0.90955	-2.76	4.63	4.63	0.57726	4.63	4.63	0.57726	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99683	1.0999	10	0.87932	D	0	.	16.4616	0.84056	0.0:1.0:0.0:0.0	.	833	P46531	NOTC1_HUMAN	Y	833	ENSP00000277541:C833Y	ENSP00000277541:C833Y	C	-	2	0	0	NOTCH1	138525514	138525514	1.000000	0.71417	0.945000	0.38365	0.913000	0.54294	7.251000	0.78297	2.120000	0.65058	0.462000	0.41574	TGT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	0	1		2	2	2	0		0	0	35		35	32	1	2.060000	-20.000000	1	0.170000	NM_017617			35	35		178	167	0		1	1		0	0	35	0		1	9.994799e-01	0	5	0	57	0	35	178
NOTCH1	4851	broad.mit.edu	37	9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	585	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGTGGCGACGCCGTCC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.860000	1	9.900000e-01	0.990000	0.991844	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		0				1359						c.(1753-1755)Gcc>Acc		notch 1							20.0	31.0	27.0					9																	139410085		2171	4280	6451	SO:0001583	missense	4851	1	120116	31				g.chr9:139410085C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1753G>A	chr9.hg19:g.139410085C>T	ENSP00000277541:p.Ala585Thr	0	HNSCC(8;0.001)					p.A585T	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		11	1828	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	0	1	hg19	c.1753G>A	CCDS43905.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313318	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	5.16	3.26	0.37387	5.16	3.26	0.37387	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	L	0.31664	0.95	0.80722	D	1	D	0.53151	0.958	P	0.56563	0.801	D	0.89859	0.4015	10	0.49607	T	0.09	.	13.248	0.60033	0.2896:0.7104:0.0:0.0	.	585	P46531	NOTC1_HUMAN	T	585	ENSP00000277541:A585T	ENSP00000277541:A585T	A	-	1	0	0	NOTCH1	138529906	138529906	1.000000	0.71417	0.744000	0.31058	0.973000	0.67179	5.893000	0.69798	0.519000	0.28406	-0.270000	0.10280	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_017617			16	15		105	103	1		1	1		0	0	18	0		9.999439e-01	9.718962e-01	0	10	0	32	0	16	105
NOTCH1	4851	broad.mit.edu	37	9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	469	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)	p.D469N(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAATCTGGTCCAGGCAGGTG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q34.3	9q34.3	4851	T, Mis, O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""				L	L	TRB@		T-ALL		2	Substitution - Missense(2)	p.D469N(2)	breast(2)	1359						c.(1405-1407)Gac>Tac		notch 1							57.0	64.0	61.0					9																	139412240		2138	4230	6368	SO:0001583	missense	4851	0	0					g.chr9:139412240C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1405G>T	chr9.hg19:g.139412240C>A	ENSP00000277541:p.Asp469Tyr	0	HNSCC(8;0.001)				MIR4673_ENST00000584777.1_RNA	p.D469Y	NM_017617.3	NP_060087.3	0	0	0	1.937903	P46531	NOTC1_HUMAN		8	1480	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	1	1	hg19	c.1405G>T	CCDS43905.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444221	0.83993	.	.	ENSG00000148400	ENST00000277541	D	0.92048	-2.96	4.57	4.57	0.56435	4.57	4.57	0.56435	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	0.97256	0.9103	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	469	P46531	NOTC1_HUMAN	Y	469	ENSP00000277541:D469Y	ENSP00000277541:D469Y	D	-	1	0	0	NOTCH1	138532061	138532061	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	GAC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-3.405973	1	0.170000	NM_017617			78	76		330	325	1		1	1		0	0	83	0		1	9.976550e-01	0	4	0	37	0	78	330
EGFL7	51162	broad.mit.edu	37	9	139563096	139563096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	56	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682																																						ENST00000371699.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(166-168)tgC>tgT		EGF-like-domain, multiple 7							74.0	71.0	72.0					9																	139563096		2202	4295	6497	SO:0001819	synonymous_variant	51162	3	121152	37				g.chr9:139563096C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.168C>T	chr9.hg19:g.139563096C>T		0					EGFL7_ENST00000308874.7_Silent_p.C56C|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.C56C	p.C56C			0	0	0	1.937903	Q9UHF1	EGFL7_HUMAN		4	1079	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	1	1	hg19	c.168C>T	CCDS7002.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_016215			126	125		643	636	1		1	1		0	0	129	0		1	9.994972e-01	0	2	0	56	0	126	643
EGFL7	51162	broad.mit.edu	37	9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	161	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657																																						ENST00000371699.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(481-483)tGc>tAc		EGF-like-domain, multiple 7							31.0	33.0	32.0					9																	139564693		2202	4295	6497	SO:0001583	missense	51162	0	0					g.chr9:139564693G>A	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.482G>A	chr9.hg19:g.139564693G>A	ENSP00000360764:p.Cys161Tyr	0					EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y	p.C161Y			0	0	0	1.937903	Q9UHF1	EGFL7_HUMAN		7	1393	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	1	1	hg19	c.482G>A	CCDS7002.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400622	0.83120	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.26	5.26	0.73747	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96994	0.9724	10	0.87932	D	0	-25.823	17.8471	0.88733	0.0:0.0:1.0:0.0	.	161	Q9UHF1	EGFL7_HUMAN	Y	161	ENSP00000360764:C161Y;ENSP00000307843:C161Y;ENSP00000385639:C161Y;ENSP00000360763:C161Y	ENSP00000307843:C161Y	C	+	2	0	0	EGFL7	138684514	138684514	1.000000	0.71417	0.972000	0.41901	0.686000	0.39977	7.784000	0.85713	2.453000	0.82957	0.561000	0.74099	TGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_016215			50	48		206	203	0		1	1		0	0	49	0		1	9.999999e-01	0	15	0	89	0	50	206
FAM69B	138311	broad.mit.edu	37	9	139617731	139617731	+	Silent	SNP	G	G	A	rs112780986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371692.4	+	5	897	c.801G>A	c.(799-801)gcG>gcA	p.A267A	SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Silent_p.A180A|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	267						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15050	0.0		0.0	False		,,,				2504	0.0					ENST00000371692.4	1.000000	0.520000	9.300000e-01	6.400000e-01	0.770000	0.787677	0.770000	1.000000																										0				8						c.(799-801)gcG>gcA		family with sequence similarity 69, member B		G		1,4373		0,1,2186	24.0	30.0	28.0		801	-10.6	0.1	9	dbSNP_132	28	0,8572		0,0,4286	no	coding-synonymous	FAM69B	NM_152421.3		0,1,6472	AA,AG,GG		0.0,0.0229,0.0077		267/432	139617731	1,12945	2187	4286	6473	SO:0001819	synonymous_variant	138311	21	121202	42				g.chr9:139617731G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.801G>A	chr9.hg19:g.139617731G>A		0					SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Silent_p.A180A|SNHG7_ENST00000436596.1_RNA	p.A267A	NM_152421.3	NP_689634.2	0	0	0	1.937903	Q5VUD6	FA69B_HUMAN		5	897	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	1	1	hg19	c.801G>A	CCDS7004.1	0																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	1	0	1		2	2	2	0		0	0	78		78	69	1	2.060000	-3.318808	1	0.170000	NM_152421			27	27		367	352	0		1	0		0	0	78	0		9.999999e-01	2.796617e-02	0	1	0	3	0	27	367
FAM69B	138311	broad.mit.edu	37	9	139617866	139617866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371692.4	+	5	1032	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Silent_p.K225K|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	312						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642																																						ENST00000371692.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999805	0.990000	1.000000																										0				8						c.(934-936)aaG>aaA		family with sequence similarity 69, member B							38.0	38.0	38.0					9																	139617866		2203	4299	6502	SO:0001819	synonymous_variant	138311	1	121348	32				g.chr9:139617866G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.936G>A	chr9.hg19:g.139617866G>A		0					SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Silent_p.K225K|SNHG7_ENST00000436596.1_RNA	p.K312K	NM_152421.3	NP_689634.2	0	0	0	1.937903	Q5VUD6	FA69B_HUMAN		5	1032	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	1	1	hg19	c.936G>A	CCDS7004.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	NM_152421			33	33		189	187	1		1	0		0	0	46	0		1	6.331121e-02	0	1	0	2	0	33	189
C9orf172	389813	broad.mit.edu	37	9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701																																						ENST00000436881.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(2014-2016)cGc>cAc		chromosome 9 open reading frame 172							20.0	25.0	23.0					9																	139740881		2048	4145	6193	SO:0001583	missense	389813	0	0					g.chr9:139740881G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2015G>A	chr9.hg19:g.139740881G>A	ENSP00000412388:p.Arg672His	0					PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	p.R672H	NM_001080482.2	NP_001073951.2	0	0	0	1.937903	C9J069	CI172_HUMAN		1	2015	+				Missense_Mutation	SNP	ENST00000436881.1	1	1	hg19	c.2015G>A	CCDS48059.1	1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883763	0.33255	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	3.17	3.17	0.36434	.	.	.	.	.	T	0.52837	0.1759	M	0.66939	2.045	0.51012	D	0.9999	B	0.32939	0.391	B	0.23419	0.046	T	0.62469	-0.6848	8	0.72032	D	0.01	-10.9499	13.5	0.61449	0.0:0.0:1.0:0.0	.	672	C9J069	CI172_HUMAN	H	672	.	ENSP00000412388:R672H	R	+	2	0	0	C9orf172	138860702	138860702	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	4.587000	0.60991	1.600000	0.50102	0.164000	0.16699	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_001080482			45	43		162	160	0		1	0		0	0	29	0		1	0	0	0	0	1	0	45	162
C9orf172	389813	broad.mit.edu	37	9	139741017	139741017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139741017C>T	ENST00000436881.1	+	1	2151	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	717										endometrium(2)|large_intestine(1)|lung(6)	9						GCGTGGGCAGCGTGTGCCGCC	0.716																																						ENST00000436881.1	0.770000	0.190000	6.000000e-01	2.900000e-01	0.420000	0.453325	0.420000	0.400000																										0				9						c.(2149-2151)agC>agT		chromosome 9 open reading frame 172							13.0	15.0	14.0					9																	139741017		1939	4097	6036	SO:0001819	synonymous_variant	389813	1	118158	28				g.chr9:139741017C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2151C>T	chr9.hg19:g.139741017C>T		0					PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	p.S717S	NM_001080482.2	NP_001073951.2	0	0	0	1.937903	C9J069	CI172_HUMAN		1	2151	+				Silent	SNP	ENST00000436881.1	0	1	hg19	c.2151C>T	CCDS48059.1	0																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	26		26	24	1	2.060000	-9.683891	1	0.170000	NM_001080482			7	7		186	183	0		1			0	0	26	0		9.801031e-01	0	0	0	0	0	0	7	186
PHPT1	29085	broad.mit.edu	37	9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000247665.10	+	1	416	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	27				V -> I (in Ref. 4; CAB66579). {ECO:0000305}.	negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647																																						ENST00000247665.10	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(79-81)Gtc>Atc		phosphohistidine phosphatase 1							77.0	76.0	76.0					9																	139743961		2202	4300	6502	SO:0001583	missense	29085	0	0					g.chr9:139743961G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.79G>A	chr9.hg19:g.139743961G>A	ENSP00000247665:p.Val27Ile	0					MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I	p.V27I	NM_014172.4	NP_054891.2	0	0	0	1.937903	Q9NRX4	PHP14_HUMAN		1	416	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	1	1	hg19	c.79G>A	CCDS7009.1	1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222829	0.58668	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.23	3.34	0.38264	4.23	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.67011	0.2848	M	0.62266	1.93	0.54753	D	0.999984	D;D	0.69078	0.997;0.965	D;P	0.66084	0.941;0.774	T	0.63363	-0.6654	9	0.26408	T	0.33	-4.684	10.0652	0.42299	0.1011:0.0:0.8989:0.0	.	27;27	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	I	27	.	ENSP00000247665:V27I	V	+	1	0	0	PHPT1	138863782	138863782	0.998000	0.40836	0.987000	0.45799	0.401000	0.30781	1.948000	0.40303	1.004000	0.39156	-0.452000	0.05504	GTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_014172			78	76		356	350	0		1	1		0	0	84	0		1	1	0	79	0	358	0	78	356
PHPT1	29085	broad.mit.edu	37	9	139743981	139743981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000247665.10	+	1	436	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PHPT1_ENST00000371661.1_Silent_p.S33S|PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Silent_p.S33S	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	33					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652																																						ENST00000247665.10	1.000000	0.840000	1	9.800000e-01	0.990000	0.986345	0.990000	1.000000																										0				3						c.(97-99)tcC>tcT		phosphohistidine phosphatase 1							59.0	63.0	62.0					9																	139743981		2203	4299	6502	SO:0001819	synonymous_variant	29085	0	0					g.chr9:139743981C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.99C>T	chr9.hg19:g.139743981C>T		0					MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S	p.S33S	NM_014172.4	NP_054891.2	0	0	0	1.937903	Q9NRX4	PHP14_HUMAN		1	436	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	1	1	hg19	c.99C>T	CCDS7009.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	1	0	0		2	2	2	0		0	0	84		84	84	1	2.060000	-2.879461	1	0.170000	NM_014172			46	46		414	406	0		1	1		0	0	84	0		1	1	0	92	0	459	0	46	414
MAMDC4	158056	broad.mit.edu	37	9	139752883	139752883	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000317446.2	+	22	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.G981G	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687																																						ENST00000317446.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2704-2706)ggC>ggT		MAM domain containing 4							39.0	47.0	45.0					9																	139752883		2199	4299	6498	SO:0001819	synonymous_variant	158056	1	120304	27				g.chr9:139752883C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2706C>T	chr9.hg19:g.139752883C>T		0					MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.G981G	p.G902G	NM_206920.2	NP_996803.2	0	0	0	1.937903				22	2756	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		Silent	SNP	ENST00000317446.2	1	1	hg19	c.2706C>T	CCDS7010.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_206920			51	48		226	223	1		1	0		0	0	52	0		1	0	0	1	0	0	0	51	226
TRAF2	7186	broad.mit.edu	37	9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000247668.2	+	5	551	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	167					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)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|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)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682																																						ENST00000247668.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997850	0.990000	1.000000																										0				17						c.(499-501)Cgg>Tgg		TNF receptor-associated factor 2							18.0	20.0	19.0					9																	139802654		2203	4297	6500	SO:0001583	missense	7186	0	0					g.chr9:139802654C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.499C>T	chr9.hg19:g.139802654C>T	ENSP00000247668:p.Arg167Trp	0					TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR	p.R167W	NM_021138.3	NP_066961.2	0	0	0	1.937903	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	5	551	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	0	1	hg19	c.499C>T	CCDS7013.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322261	0.60634	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.56275	0.47;1.49;1.48;1.49;1.23	4.01	-1.67	0.08238	4.01	-1.67	0.08238	Zinc finger, TRAF-type (1);	0.183072	0.45361	D	0.000375	T	0.59224	0.2178	L	0.53249	1.67	0.31336	N	0.684212	D;D;D;P	0.71674	0.985;0.985;0.998;0.952	D;D;D;P	0.66716	0.914;0.914;0.946;0.654	T	0.62666	-0.6806	10	0.87932	D	0	-16.9972	8.6683	0.34134	0.6951:0.1942:0.1108:0.0	.	156;167;219;167	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	167;167;167;191;167;219;219	ENSP00000405860:R167W;ENSP00000446414:R167W;ENSP00000406524:R167W;ENSP00000247668:R167W;ENSP00000352685:R219W	ENSP00000247668:R167W	R	+	1	2	2	TRAF2	138922475	138922475	0.983000	0.35010	0.180000	0.23079	0.754000	0.42855	0.787000	0.26858	-0.311000	0.08754	0.561000	0.74099	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	0	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_021138			20	20		117	113	1		1	1		0	0	18	0		9.999962e-01	9.999902e-01	0	33	0	88	0	20	117
FBXW5	54461	broad.mit.edu	37	9	139835759	139835759	+	Silent	SNP	C	C	T	rs138768587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	467					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672																																						ENST00000325285.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				12						c.(1399-1401)acG>acA		F-box and WD repeat domain containing 5							43.0	36.0	38.0					9																	139835759		2202	4299	6501	SO:0001819	synonymous_variant	54461	6	121106	36				g.chr9:139835759C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1401G>A	chr9.hg19:g.139835759C>T		0					FBXW5_ENST00000483559.1_5'UTR	p.T467T	NM_018998.3	NP_061871.1	0	0	0	1.937903	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	8	1480	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	1	1	hg19	c.1401G>A	CCDS7014.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	1		2	2	2	0		0	0	39		39	37	1	2.060000	-20.000000	1	0.170000	NM_018998			41	40		215	213	1		1	1		0	0	39	0		1	1	0	137	0	310	0	41	215
FBXW5	54461	broad.mit.edu	37	9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T	rs200545656		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	394					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17290	0.0		0.001	False		,,,				2504	0.0					ENST00000325285.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999376	0.990000	1.000000																										0				12						c.(1180-1182)Gcg>Acg		F-box and WD repeat domain containing 5							84.0	68.0	73.0					9																	139836053		2197	4296	6493	SO:0001583	missense	54461	3	120746	29				g.chr9:139836053C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1180G>A	chr9.hg19:g.139836053C>T	ENSP00000313034:p.Ala394Thr	0					FBXW5_ENST00000483559.1_5'UTR	p.A394T	NM_018998.3	NP_061871.1	0	0	0	1.937903	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	7	1259	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	0	1	hg19	c.1180G>A	CCDS7014.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.45	1.352848	0.24512	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.64438	-0.1;1.64	4.09	0.713	0.18173	4.09	0.713	0.18173	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.246961	0.42548	D	0.000693	T	0.40743	0.1129	L	0.29908	0.895	0.39497	D	0.968138	P;P	0.37122	0.583;0.455	B;B	0.27887	0.084;0.035	T	0.28839	-1.0031	10	0.18276	T	0.48	-13.1478	12.3652	0.55224	0.5479:0.4521:0.0:0.0	.	259;394	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	394;229	ENSP00000313034:A394T;ENSP00000409102:A229T	ENSP00000313034:A394T	A	-	1	0	0	FBXW5	138955874	138955874	0.693000	0.27728	0.054000	0.19295	0.435000	0.31806	1.513000	0.35823	0.416000	0.25844	0.561000	0.74099	GCG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	1		2	2	2	0		0	0	9		9	9	1	2.060000	-20.000000	1	0.170000	NM_018998			17	17		69	67	0		1	1		0	0	9	0		9.999783e-01	1	0	167	0	357	0	17	69
FBXW5	54461	broad.mit.edu	37	9	139836666	139836666	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	310					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706																																						ENST00000325285.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999423	0.990000	1.000000																										0				12						c.(928-930)Ctg>Ttg		F-box and WD repeat domain containing 5							13.0	18.0	17.0					9																	139836666		2173	4281	6454	SO:0001819	synonymous_variant	54461	1	119614	17				g.chr9:139836666G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.928C>T	chr9.hg19:g.139836666G>A		0					FBXW5_ENST00000483559.1_5'UTR	p.L310L	NM_018998.3	NP_061871.1	0	0	0	1.937903	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	6	1007	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	1	1	hg19	c.928C>T	CCDS7014.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	1		2	2	2	0		0	0	13		13	10	1	2.060000	-20.000000	1	0.170000	NM_018998			16	15		59	50	1		1	1		0	0	13	0		9.998931e-01	9.999995e-01	0	39	0	78	0	16	59
PTGDS	5730	broad.mit.edu	37	9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000371625.3	+	2	253	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	60					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687																																						ENST00000371625.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(178-180)gCg>gTg		prostaglandin D2 synthase 21kDa (brain)							58.0	58.0	58.0					9																	139873509		2203	4300	6503	SO:0001583	missense	5730	1	121360	31				g.chr9:139873509C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.179C>T	chr9.hg19:g.139873509C>T	ENSP00000360687:p.Ala60Val	0					RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V|PTGDS_ENST00000460340.1_3'UTR	p.A60V	NM_000954.5	NP_000945.3	0	0	0	1.937903	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	2	253	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	1	1	hg19	c.179C>T	CCDS7019.1	1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948219	0.53186	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	4.38	-0.632	0.11523	4.38	-0.632	0.11523	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.177410	0.06362	N	0.711815	T	0.08313	0.0207	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.20955	0.032	T	0.40553	-0.9557	10	0.33940	T	0.23	-14.0698	9.1141	0.36746	0.5396:0.3473:0.113:0.0	.	60	P41222	PTGDS_HUMAN	V	60	ENSP00000224167:A60V;ENSP00000392633:A60V;ENSP00000360687:A60V;ENSP00000360685:A60V	ENSP00000224167:A60V	A	+	2	0	0	PTGDS	138993330	138993330	0.000000	0.05858	0.015000	0.15790	0.680000	0.39746	-0.207000	0.09384	-0.111000	0.12001	0.436000	0.28706	GCG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-3.431212	1	0.170000	NM_000954			61	61		273	267	0		1	1		0	0	70	0		1	1	0	141	0	581	0	61	273
PTGDS	5730	broad.mit.edu	37	9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000371625.3	+	4	459	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	129					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662																																						ENST00000371625.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(385-387)Gcg>Acg		prostaglandin D2 synthase 21kDa (brain)							85.0	88.0	87.0					9																	139874451		2203	4300	6503	SO:0001583	missense	5730	1	121408	31				g.chr9:139874451G>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.385G>A	chr9.hg19:g.139874451G>A	ENSP00000360687:p.Ala129Thr	0					PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T|LCNL1_ENST00000408973.2_5'Flank	p.A129T	NM_000954.5	NP_000945.3	0	0	0	1.937903	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	4	459	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	1	1	hg19	c.385G>A	CCDS7019.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.7|24.7	4.559762|4.559762	0.86335|0.86335	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.83|4.83	4.83|4.83	0.62350|0.62350	4.83|4.83	4.83|4.83	0.62350|0.62350	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.178344|.	0.39146|.	N|.	0.001446|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.82923|0.82923	2.615|2.615	0.48571|0.48571	D|D	0.99967|0.99967	D|.	0.76494|.	0.999|.	P|.	0.59115|.	0.852|.	T|T	0.78800|0.78800	-0.2062|-0.2062	10|5	0.66056|.	D|.	0.02|.	-0.5952|-0.5952	13.7612|13.7612	0.62968|0.62968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129|.	P41222|.	PTGDS_HUMAN|.	T|H	163;163;129|151	ENSP00000224167:A163T;ENSP00000392633:A163T;ENSP00000360687:A129T|.	ENSP00000224167:A163T|.	A|R	+|+	1|2	0|0	0|0	PTGDS|PTGDS	138994272|138994272	138994272|138994272	0.788000|0.788000	0.28762|0.28762	0.114000|0.114000	0.21550|0.21550	0.019000|0.019000	0.09904|0.09904	2.412000|2.412000	0.44609|0.44609	2.391000|2.391000	0.81399|0.81399	0.651000|0.651000	0.88453|0.88453	GCG|CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	1	0	1		2	2	2	0		0	0	152		152	147	1	2.060000	-3.329206	1	0.170000	NM_000954			137	136		660	650	1		1	1		0	0	152	0		1	1	0	304	0	430	0	137	660
ABCA2	20	broad.mit.edu	37	9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000371605.3	-	46	7163	c.7016G>A	c.(7015-7017)gGc>gAc	p.G2339D	ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D|ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2339					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999561	0.990000	1.000000																										0				41						c.(7015-7017)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 2							36.0	42.0	40.0					9																	139903232		2173	4251	6424	SO:0001583	missense	20	0	0					g.chr9:139903232C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7016G>A	chr9.hg19:g.139903232C>T	ENSP00000360666:p.Gly2339Asp	0					ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D|ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D	p.G2339D			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	46	7163	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	1	1	hg19	c.7016G>A		1	.	.	.	.	.	.	.	.	.	.	C	5.457	0.269470	0.10349	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.89	2.88	0.33553	3.89	2.88	0.33553	.	0.136424	0.47093	U	0.000249	T	0.41119	0.1145	N	0.01771	-0.73	0.37890	D	0.930681	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	3.2538	0.06824	0.0:0.5802:0.0:0.4198	.	2339;2370	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2340;2339;2370;2340;108;98	ENSP00000265662:G2340D;ENSP00000360666:G2339D;ENSP00000344155:G2340D;ENSP00000420360:G108D;ENSP00000406741:G98D	ENSP00000265662:G2340D	G	-	2	0	0	ABCA2	139023053	139023053	1.000000	0.71417	0.980000	0.43619	0.620000	0.37586	4.803000	0.62546	2.009000	0.58944	0.491000	0.48974	GGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_001606			15	15		46	46	0		1	1		0	0	14	0		9.999415e-01	1	0	59	0	105	0	15	46
ABCA2	20	broad.mit.edu	37	9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000371605.3	-	46	7078	c.6931C>T	c.(6931-6933)Cgg>Tgg	p.R2311W	ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W|ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2311					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999926	0.990000	1.000000																										0				41						c.(6931-6933)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							31.0	34.0	33.0					9																	139903317		2078	4188	6266	SO:0001583	missense	20	0	0					g.chr9:139903317G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6931C>T	chr9.hg19:g.139903317G>A	ENSP00000360666:p.Arg2311Trp	0					ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W	p.R2311W			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	46	7078	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	1	1	hg19	c.6931C>T		1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184237	0.57800	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	3.89	2.97	0.34412	3.89	2.97	0.34412	.	0.152893	0.43260	U	0.000591	D	0.89480	0.6727	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89827	0.3993	10	0.87932	D	0	.	12.308	0.54912	0.0:0.0:0.6968:0.3032	.	2311;2342	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2312;2311;2342;2312;80;70	ENSP00000265662:R2312W;ENSP00000360666:R2311W;ENSP00000344155:R2312W;ENSP00000420360:R80W;ENSP00000406741:R70W	ENSP00000265662:R2312W	R	-	1	2	2	ABCA2	139023138	139023138	0.993000	0.37304	0.995000	0.50966	0.362000	0.29581	0.771000	0.26633	0.820000	0.34516	0.491000	0.48974	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_001606			22	22		78	75	0		1	1		0	0	23	0		9.999994e-01	9.999999e-01	0	34	0	83	0	22	78
ABCA2	20	broad.mit.edu	37	9	139904272	139904272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000371605.3	-	42	6723	c.6576G>A	c.(6574-6576)cgG>cgA	p.R2192R	ABCA2_ENST00000341511.6_Silent_p.R2193R|ABCA2_ENST00000265662.5_Silent_p.R2193R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2192	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999972	0.990000	1.000000																										0				41						c.(6574-6576)cgG>cgA		ATP-binding cassette, sub-family A (ABC1), member 2							45.0	55.0	52.0					9																	139904272		2189	4291	6480	SO:0001819	synonymous_variant	20	0	0					g.chr9:139904272C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6576G>A	chr9.hg19:g.139904272C>T		0					ABCA2_ENST00000265662.5_Silent_p.R2193R|ABCA2_ENST00000341511.6_Silent_p.R2193R	p.R2192R			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	42	6723	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	1	1	hg19	c.6576G>A		1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	27		27	25	1	2.060000	-20.000000	1	0.170000	NM_001606			30	30		130	125	1		1	1		0	0	27	0		1	1	0	30	0	119	0	30	130
ABCA2	20	broad.mit.edu	37	9	139907734	139907734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000371605.3	-	29	4731	c.4584C>T	c.(4582-4584)ctC>ctT	p.L1528L	ABCA2_ENST00000341511.6_Silent_p.L1529L|ABCA2_ENST00000265662.5_Silent_p.L1529L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1528					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999211	0.990000	1.000000																										0				41						c.(4582-4584)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 2							4.0	6.0	6.0					9																	139907734		1634	3662	5296	SO:0001819	synonymous_variant	20	3	114768	27				g.chr9:139907734G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4584C>T	chr9.hg19:g.139907734G>A		0					ABCA2_ENST00000265662.5_Silent_p.L1529L|ABCA2_ENST00000341511.6_Silent_p.L1529L	p.L1528L			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	29	4731	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	0	1	hg19	c.4584C>T		1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.736	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-20.000000	1	0.170000	NM_001606			16	15		64	63	0		1	1		0	0	10	0		9.999565e-01	9.374967e-01	0	9	0	13	0	16	64
ABCA2	20	broad.mit.edu	37	9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000371605.3	-	17	2695	c.2548G>A	c.(2548-2550)Gcg>Acg	p.A850T	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	850					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2548-2550)Gcg>Acg		ATP-binding cassette, sub-family A (ABC1), member 2							48.0	56.0	53.0					9																	139911650		2136	4235	6371	SO:0001583	missense	20	0	0					g.chr9:139911650C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2548G>A	chr9.hg19:g.139911650C>T	ENSP00000360666:p.Ala850Thr	0					ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T	p.A850T			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	17	2695	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	1	1	hg19	c.2548G>A		1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575579	0.86645	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84873	-1.91;-1.91;-1.91	4.08	4.08	0.47627	4.08	4.08	0.47627	.	0.198498	0.42821	U	0.000653	D	0.90157	0.6924	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.81914	0.995;0.881	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	850;881	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	851;850;881;851	ENSP00000265662:A851T;ENSP00000360666:A850T;ENSP00000344155:A851T	ENSP00000265662:A851T	A	-	1	0	0	ABCA2	139031471	139031471	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.530000	0.81962	2.116000	0.64780	0.313000	0.20887	GCG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	75		75	69	1	2.060000	-3.335909	1	0.170000	NM_001606			74	71		371	365	1		1	1		0	0	75	0		1	9.999897e-01	0	22	0	63	0	74	371
ABCA2	20	broad.mit.edu	37	9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000371605.3	-	14	2234	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	696					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				41						c.(2086-2088)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 2							37.0	40.0	39.0					9																	139912431		1997	4174	6171	SO:0001583	missense	20	0	0					g.chr9:139912431C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2087G>A	chr9.hg19:g.139912431C>T	ENSP00000360666:p.Arg696His	0					ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H	p.R696H			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	14	2234	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	1	1	hg19	c.2087G>A		1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.049685	0.75846	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94497	-3.44;-3.44;-3.44	3.35	3.35	0.38373	3.35	3.35	0.38373	.	0.146870	0.42294	U	0.000739	D	0.94013	0.8082	N	0.17800	0.525	0.53005	D	0.999966	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.944	D	0.94289	0.7527	10	0.48119	T	0.1	.	15.2097	0.73209	0.0:1.0:0.0:0.0	.	696;727	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	697;696;727;697	ENSP00000265662:R697H;ENSP00000360666:R696H;ENSP00000344155:R697H	ENSP00000265662:R697H	R	-	2	0	0	ABCA2	139032252	139032252	0.488000	0.25996	0.778000	0.31720	0.505000	0.33919	4.466000	0.60148	1.880000	0.54463	0.306000	0.20318	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-20.000000	1	0.170000	NM_001606			37	37		169	167	0		1	1		0	0	47	0		1	9.998333e-01	0	12	0	52	0	37	169
ABCA2	20	broad.mit.edu	37	9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000371605.3	-	9	1477	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	444					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677																																						ENST00000371605.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				41						c.(1330-1332)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							70.0	85.0	80.0					9																	139914880		2161	4247	6408	SO:0001583	missense	20	2	120840	29				g.chr9:139914880G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1330C>T	chr9.hg19:g.139914880G>A	ENSP00000360666:p.Arg444Trp	0					ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W	p.R444W			0	0	0	1.937903	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	9	1477	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	1	1	hg19	c.1330C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323890|4.323890	0.81580|0.81580	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.89617	.|-2.54;-2.54;-2.54	4.64|4.64	3.7|3.7	0.42460|0.42460	4.64|4.64	3.7|3.7	0.42460|0.42460	.|.	.|0.149744	.|0.43260	.|U	.|0.000598	D|D	0.92691|0.92691	0.7677|0.7677	M|M	0.65975|0.65975	2.015|2.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.987;0.987	D|D	0.93110|0.93110	0.6516|0.6516	5|10	.|0.87932	.|D	.|0	.|.	11.9976|11.9976	0.53212|0.53212	0.0:0.0:0.6897:0.3103|0.0:0.0:0.6897:0.3103	.|.	.|444;474;475	.|Q9BZC7;E7EU84;E7ETC3	.|ABCA2_HUMAN;.;.	V|W	55|445;444;475;445	.|ENSP00000265662:R445W;ENSP00000360666:R444W;ENSP00000344155:R445W	.|ENSP00000265662:R445W	A|R	-|-	2|1	0|2	0|2	ABCA2|ABCA2	139034701|139034701	139034701|139034701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.091000|3.091000	0.50199|0.50199	2.113000|2.113000	0.64589|0.64589	0.462000|0.462000	0.41574|0.41574	GCG|CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.321290	1	0.170000	NM_001606			63	62		354	351	1		1	1		0	0	64	0		1	9.992426e-01	0	9	0	53	0	63	354
FUT7	2529	broad.mit.edu	37	9	139925490	139925490	+	Missense_Mutation	SNP	C	C	T	rs141846761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139925490C>T	ENST00000314412.6	-	2	1719	c.701G>A	c.(700-702)cGc>cAc	p.R234H	ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_5'Flank|ABCA2_ENST00000265662.5_5'Flank|C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	234					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AATGTAGTCGCGGTGCTGAGA	0.637													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		17581	0.0		0.001	False		,,,				2504	0.0					ENST00000314412.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(700-702)cGc>cAc		fucosyltransferase 7 (alpha (1,3) fucosyltransferase)			HIS/ARG,	2,4404	4.2+/-10.8	0,2,2201	108.0	127.0	121.0		701,	-2.6	0.0	9	dbSNP_134	121	16,8584	11.2+/-40.8	0,16,4284	yes	missense,intron	FUT7,C9orf139	NM_004479.3,NM_207511.1	29,	0,18,6485	TT,TC,CC		0.186,0.0454,0.1384	benign,	234/343,	139925490	18,12988	2203	4300	6503	SO:0001583	missense	2529	198	121230	59				g.chr9:139925490C>T	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.701G>A	chr9.hg19:g.139925490C>T	ENSP00000318142:p.Arg234His	0					ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000341511.6_5'Flank	p.R234H	NM_004479.3	NP_004470.1	0	0	0	1.937903	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	2	1719	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	1	0	hg19	c.701G>A	CCDS7022.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	6.822	0.520860	0.13005	4.54E-4	0.00186	ENSG00000180549	ENST00000314412	T	0.27720	1.65	4.68	-2.59	0.06209	4.68	-2.59	0.06209	.	0.653039	0.15388	U	0.264965	T	0.27663	0.0680	M	0.75150	2.29	0.21802	N	0.999538	B	0.16166	0.016	B	0.18871	0.023	T	0.28744	-1.0034	10	0.42905	T	0.14	-3.4242	6.4767	0.22039	0.0:0.3934:0.3311:0.2755	.	234	Q11130	FUT7_HUMAN	H	234	ENSP00000318142:R234H	ENSP00000318142:R234H	R	-	2	0	0	FUT7	139045311	139045311	0.000000	0.05858	0.017000	0.16124	0.145000	0.21501	-0.730000	0.04915	-0.194000	0.10399	-0.477000	0.04895	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	0	0	1		2	2	2	0		0	0	229		229	228	1	2.060000	-4.413611	1	0.170000	NM_004479			233	232		1094	1085	1		1	0		0	0	229	0		1	3.111051e-02	0	0	0	2	0	233	1094
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632																																						ENST00000314330.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(481-483)Gaa>Aaa		chromosome 9 open reading frame 139							45.0	57.0	53.0					9																	139929414		2198	4295	6493	SO:0001583	missense	401563	0	0					g.chr9:139929414G>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>A	chr9.hg19:g.139929414G>A	ENSP00000318119:p.Glu161Lys	0					FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	p.E161K	NM_207511.1	NP_997394.1	0	0	0	1.937903	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	3	1995	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	1	1	hg19	c.481G>A	CCDS7023.1	1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.285647	0.40394	.	.	ENSG00000180539	ENST00000314330	T	0.54675	0.56	2.64	0.667	0.17907	2.64	0.667	0.17907	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.33846	0.171	T	0.12682	-1.0538	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	K	161	ENSP00000318119:E161K	ENSP00000318119:E161K	E	+	1	0	0	C9orf139	139049235	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	1	0	1		2	2	2	0		0	0	123		123	120	1	2.060000	-20.000000	1	0.170000	NM_207511			91	90		485	479	1		1	0		0	0	123	0		1	2.556609e-02	0	0	0	2	0	91	485
DPP7	29952	broad.mit.edu	37	9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652																																						ENST00000371579.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999371	0.990000	1.000000																										0				7						c.(1276-1278)Cgg>Tgg		dipeptidyl-peptidase 7		G	TRP/ARG	6,4390	11.4+/-27.6	0,6,2192	87.0	56.0	66.0		1276	3.7	0.0	9	dbSNP_134	66	0,8600		0,0,4300	yes	missense	DPP7	NM_013379.2	101	0,6,6492	AA,AG,GG		0.0,0.1365,0.0462	probably-damaging	426/493	140005399	6,12990	2198	4300	6498	SO:0001583	missense	29952	25	121330	42				g.chr9:140005399G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1276C>T	chr9.hg19:g.140005399G>A	ENSP00000360635:p.Arg426Trp	0						p.R426W	NM_013379.2	NP_037511.2	0	0	0	1.937903	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	12	1280	-	all_cancers(76;0.0926)		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	1	1	hg19	c.1276C>T	CCDS7030.1	1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699278	0.48307	0.001365	0.0	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.72	3.71	0.42584	4.72	3.71	0.42584	.	0.988395	0.08220	N	0.979309	D	0.89125	0.6626	L	0.57536	1.79	0.09310	N	1	D	0.56035	0.974	B	0.37943	0.261	T	0.81420	-0.0941	10	0.49607	T	0.09	-3.1443	11.0004	0.47602	0.0:0.0:0.7615:0.2385	.	426	Q9UHL4	DPP2_HUMAN	W	426	ENSP00000360635:R426W	ENSP00000360635:R426W	R	-	1	2	2	DPP7	139125220	139125220	0.014000	0.17966	0.008000	0.14137	0.018000	0.09664	1.387000	0.34430	2.169000	0.68431	0.561000	0.74099	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-3.306250	1	0.170000	NM_013379			23	24		122	120	1		1	1		0	0	26	0		9.999996e-01	1	0	126	0	340	0	23	122
GRIN1	2902	broad.mit.edu	37	9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	636					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|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 density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCATGGTGTGGGCCGGCTTTG	0.701																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.997715	0.990000	1.000000																										0				15						c.(1906-1908)tgG>tgA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						21.0	25.0	24.0					9																	140057086		2199	4293	6492	SO:0001587	stop_gained	2902	0	0					g.chr9:140057086G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1908G>A	chr9.hg19:g.140057086G>A	ENSP00000360616:p.Trp636*	0					GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*	p.W636*	NM_007327.3	NP_015566.1	0	0	0	1.937903	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	14	3005	+	all_cancers(76;0.0926)		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Nonsense_Mutation	SNP	ENST00000371561.3	0	1	hg19	c.1908G>A	CCDS7031.1	1	.	.	.	.	.	.	.	.	.	.	g	40	8.208381	0.98706	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.54	4.54	0.55810	4.54	4.54	0.55810	.	0.185434	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8918	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	X	636;636;636;636;657;657;657;636;657	.	ENSP00000316696:W636X	W	+	3	0	0	GRIN1	139176907	139176907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.543000	0.82106	2.093000	0.63338	0.450000	0.29827	TGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_007327			19	19		109	109	0		1	0		0	0	25	0		9.999945e-01	1.745688e-01	0	0	0	5	0	19	109
ANAPC2	29882	broad.mit.edu	37	9	140069809	140069809	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	TMEM210_ENST00000413619.2_5'Flank|ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	712					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 axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662																																						ENST00000323927.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999814	0.990000	1.000000																										0				15						c.(2134-2136)acC>acA		anaphase promoting complex subunit 2							31.0	30.0	30.0					9																	140069809		2195	4296	6491	SO:0001819	synonymous_variant	29882	0	0					g.chr9:140069809G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2136C>A	chr9.hg19:g.140069809G>T		0					ANAPC2_ENST00000487917.1_5'UTR|TMEM210_ENST00000413619.2_5'Flank	p.T712T	NM_013366.3	NP_037498.1	0	0	0	1.937903	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	12	2140	-	all_cancers(76;0.0926)		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	1	1	hg19	c.2136C>A	CCDS7033.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_013366			27	27		136	135	1		1	1		0	0	28	0		1	9.998543e-01	0	18	0	56	0	27	136
ANAPC2	29882	broad.mit.edu	37	9	140069920	140069920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	ENST00000323927.2	-	12	2029	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	675					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 axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCAGGGTCCAGCTGGCTGCGT	0.721																																						ENST00000323927.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998487	0.990000	1.000000																										0				15						c.(2023-2025)agC>agA		anaphase promoting complex subunit 2							13.0	12.0	12.0					9																	140069920		2174	4274	6448	SO:0001583	missense	29882	0	0					g.chr9:140069920G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2025C>A	chr9.hg19:g.140069920G>T	ENSP00000314004:p.Ser675Arg	0					ANAPC2_ENST00000487917.1_5'UTR	p.S675R	NM_013366.3	NP_037498.1	0	0	0	1.937903	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	12	2029	-	all_cancers(76;0.0926)		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	0	1	hg19	c.2025C>A	CCDS7033.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284595	0.23392	.	.	ENSG00000176248	ENST00000323927	T	0.73897	-0.79	4.42	3.53	0.40419	4.42	3.53	0.40419	Cullin, N-terminal (1);Cullin homology (2);	0.332246	0.33712	N	0.004630	T	0.47507	0.1449	N	0.04335	-0.225	0.45676	D	0.998596	B;B	0.14012	0.009;0.007	B;B	0.20384	0.029;0.017	T	0.26121	-1.0112	10	0.20519	T	0.43	-19.6738	6.1082	0.20086	0.1034:0.1904:0.7061:0.0	.	675;672	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	R	675	ENSP00000314004:S675R	ENSP00000314004:S675R	S	-	3	2	2	ANAPC2	139189741	139189741	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	0.928000	0.28831	1.074000	0.40909	0.555000	0.69702	AGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.721	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-19.999980	1	0.170000	NM_013366			12	12		39	39	0		1	1		0	0	8	0		9.995036e-01	9.999970e-01	0	18	0	82	0	12	39
ANAPC2	29882	broad.mit.edu	37	9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	219					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 axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627																																						ENST00000323927.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(655-657)cCg>cTg		anaphase promoting complex subunit 2							78.0	78.0	78.0					9																	140082017		2203	4300	6503	SO:0001583	missense	29882	0	0					g.chr9:140082017G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.656C>T	chr9.hg19:g.140082017G>A	ENSP00000314004:p.Pro219Leu	0					SSNA1_ENST00000322310.5_5'Flank	p.P219L	NM_013366.3	NP_037498.1	0	0	0	1.937903	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	2	660	-	all_cancers(76;0.0926)		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	1	1	hg19	c.656C>T	CCDS7033.1	1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453188	0.12283	.	.	ENSG00000176248	ENST00000323927	T	0.03663	3.85	5.09	4.09	0.47781	5.09	4.09	0.47781	.	0.243014	0.42964	D	0.000629	T	0.03053	0.0090	N	0.22421	0.69	0.44409	D	0.997329	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.52034	-0.8629	10	0.25751	T	0.34	-28.5775	11.4869	0.50358	0.0:0.0:0.8082:0.1918	.	219;219	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	219	ENSP00000314004:P219L	ENSP00000314004:P219L	P	-	2	0	0	ANAPC2	139201838	139201838	0.408000	0.25360	0.953000	0.39169	0.790000	0.44656	0.625000	0.24477	2.365000	0.80145	0.561000	0.74099	CCG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-2.531484	1	0.170000	NM_013366			107	103		507	496	1		1	1		0	0	104	0		1	9.999992e-01	0	35	0	60	0	107	507
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000344894.5	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000371521.4_Silent_p.L273L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682																																						ENST00000344894.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(817-819)ctC>ctA		NADPH dependent diflavin oxidoreductase 1							33.0	34.0	34.0					9																	140109118		2203	4299	6502	SO:0001819	synonymous_variant	27158	0	0					g.chr9:140109118C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.819C>A	chr9.hg19:g.140109118C>A		0					NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000371521.4_Silent_p.L273L	p.L273L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1	0	0	0	1.937903			STAD - Stomach adenocarcinoma(284;0.0698)	7	902	+	all_cancers(76;0.0926)			Silent	SNP	ENST00000344894.5	1	1	hg19	c.819C>A	CCDS7036.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	1	0	1		2	2	2	0		0	0	55		55	53	1	2.060000	-3.547953	1	0.170000	NM_014434			60	60		250	249	1		1	1		0	0	55	0		1	9.890371e-01	0	7	0	25	0	60	250
NDOR1	27158	broad.mit.edu	37	9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000344894.5	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000371521.4_Missense_Mutation_p.A364D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGCACACAGCTGCCGCCATC	0.652																																						ENST00000344894.5	0.880000	0.220000	6.800000e-01	3.300000e-01	0.490000	0.516763	0.490000	0.460000																										0				15						c.(1090-1092)gCt>gAt		NADPH dependent diflavin oxidoreductase 1							83.0	65.0	71.0					9																	140109572		2202	4300	6502	SO:0001583	missense	27158	0	0					g.chr9:140109572C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1091C>A	chr9.hg19:g.140109572C>A	ENSP00000343344:p.Ala364Asp	0					NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D|NDOR1_ENST00000371521.4_Missense_Mutation_p.A364D	p.A364D	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1	0	0	0	1.937903			STAD - Stomach adenocarcinoma(284;0.0698)	9	1174	+	all_cancers(76;0.0926)			Missense_Mutation	SNP	ENST00000344894.5	1	1	hg19	c.1091C>A	CCDS7036.1	0	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503587	0.64298	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.57	4.57	0.56435	4.57	4.57	0.56435	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.055734	0.64402	D	0.000001	T	0.71913	0.3396	L	0.56769	1.78	0.44908	D	0.997925	D;B;P;D	0.53151	0.958;0.367;0.948;0.958	P;B;P;P	0.57468	0.821;0.14;0.726;0.821	T	0.73943	-0.3823	10	0.49607	T	0.09	-13.2222	16.2661	0.82579	0.0:1.0:0.0:0.0	.	364;330;364;364	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	D	364;330;364;364	ENSP00000389905:A364D;ENSP00000394309:A330D;ENSP00000360576:A364D;ENSP00000343344:A364D	ENSP00000343344:A364D	A	+	2	0	0	NDOR1	139229393	139229393	0.971000	0.33674	0.051000	0.19133	0.087000	0.18053	4.374000	0.59543	2.249000	0.74217	0.561000	0.74099	GCT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	0	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-9.682661	1	0.170000	NM_014434			7	7		161	161	0		1	0		0	0	42	0		9.813075e-01	6.400783e-01	0	0	0	49	0	7	161
NDOR1	27158	broad.mit.edu	37	9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000344894.5	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000371521.4_Missense_Mutation_p.A444T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642																																						ENST00000344894.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1330-1332)Gcc>Acc		NADPH dependent diflavin oxidoreductase 1							47.0	52.0	50.0					9																	140110152		2202	4300	6502	SO:0001583	missense	27158	0	0					g.chr9:140110152G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1330G>A	chr9.hg19:g.140110152G>A	ENSP00000343344:p.Ala444Thr	0					NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T|NDOR1_ENST00000371521.4_Missense_Mutation_p.A444T	p.A444T	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1	0	0	0	1.937903			STAD - Stomach adenocarcinoma(284;0.0698)	11	1413	+	all_cancers(76;0.0926)			Missense_Mutation	SNP	ENST00000344894.5	1	1	hg19	c.1330G>A	CCDS7036.1	1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770454	0.15983	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03242	4.27;4.0;4.24;4.24	4.68	0.973	0.19710	4.68	0.973	0.19710	Ferredoxin reductase-type FAD-binding domain (1);	0.403386	0.25701	N	0.028879	T	0.01156	0.0038	N	0.00666	-1.275	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47275	-0.9130	10	0.37606	T	0.19	-18.318	7.1715	0.25721	0.6166:0.0:0.3834:0.0	.	437;410;444;444	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	T	437;410;444;444	ENSP00000389905:A437T;ENSP00000394309:A410T;ENSP00000360576:A444T;ENSP00000343344:A444T	ENSP00000343344:A444T	A	+	1	0	0	NDOR1	139229973	139229973	0.846000	0.29590	0.432000	0.26747	0.903000	0.53119	1.231000	0.32624	0.298000	0.22638	0.561000	0.74099	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	0	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_014434			80	79		349	344	1		1	1		0	0	75	0		1	9.429670e-01	0	10	0	13	0	80	349
NDOR1	27158	broad.mit.edu	37	9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000344894.5	+	14	1848	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	NDOR1_ENST00000371521.4_Missense_Mutation_p.R598W|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682																																						ENST00000344894.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				15						c.(1765-1767)Cgg>Tgg		NADPH dependent diflavin oxidoreductase 1							35.0	39.0	38.0					9																	140110839		2203	4299	6502	SO:0001583	missense	27158	2	121266	35				g.chr9:140110839C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1765C>T	chr9.hg19:g.140110839C>T	ENSP00000343344:p.Arg589Trp	0					NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR|NDOR1_ENST00000371521.4_Missense_Mutation_p.R598W	p.R589W	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1	0	0	0	1.937903			STAD - Stomach adenocarcinoma(284;0.0698)	14	1848	+	all_cancers(76;0.0926)			Missense_Mutation	SNP	ENST00000344894.5	1	1	hg19	c.1765C>T	CCDS7036.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662550	0.29515	.	.	ENSG00000188566	ENST00000458322;ENST00000371521;ENST00000344894	T;T;T	0.78924	-1.22;-1.22;-1.22	3.93	-0.989	0.10242	3.93	-0.989	0.10242	.	0.777035	0.11604	N	0.547504	D	0.82518	0.5054	M	0.85945	2.785	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.989	P;P;P	0.54924	0.586;0.764;0.586	T	0.72107	-0.4390	10	0.72032	D	0.01	-4.7404	6.1079	0.20084	0.4665:0.4318:0.0:0.1017	.	582;598;589	D3YTG6;Q9UHB4-2;Q9UHB4	.;.;NDOR1_HUMAN	W	582;598;589	ENSP00000389905:R582W;ENSP00000360576:R598W;ENSP00000343344:R589W	ENSP00000343344:R589W	R	+	1	2	2	NDOR1	139230660	139230660	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.438000	0.06905	-0.003000	0.14444	0.561000	0.74099	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	1	0	0		2	2	2	0		0	0	63		63	59	1	2.060000	-20.000000	1	0.170000	NM_014434			42	42		218	216	1		1	1		0	0	63	0		1	9.966114e-01	0	13	0	35	0	42	218
RNF208	727800	broad.mit.edu	37	9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208	32					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672																																						ENST00000392827.1	1.000000	0.950000	1	9.900000e-01	0.990000	0.996652	0.990000	1.000000																										0				1						c.(94-96)gCc>gTc		ring finger protein 208							16.0	20.0	19.0					9																	140115570		1965	4147	6112	SO:0001583	missense	727800	0	0					g.chr9:140115570G>A	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.95C>T	chr9.hg19:g.140115570G>A	ENSP00000376572:p.Ala32Val	0					RNF208_ENST00000391553.1_Missense_Mutation_p.A32V	p.A32V			0	0	0	1.937903	Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	2	263	-	all_cancers(76;0.0926)		A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	0	1	hg19	c.95C>T	CCDS7037.2	1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.183072	0.57800	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.36157	1.27;1.27	4.25	3.28	0.37604	4.25	3.28	0.37604	.	.	.	.	.	T	0.24198	0.0586	N	0.14661	0.345	0.33036	D	0.53082	B	0.33612	0.419	B	0.35353	0.201	T	0.42032	-0.9475	9	0.87932	D	0	-12.8448	11.4687	0.50254	0.0:0.0:0.8194:0.1805	.	32	Q9H0X6	RN208_HUMAN	V	32	ENSP00000376572:A32V;ENSP00000375397:A32V	ENSP00000375397:A32V	A	-	2	0	0	RNF208	139235391	139235391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.320000	0.59203	1.915000	0.55452	0.556000	0.70494	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-19.999970	1	0.170000	NM_031297			14	14		70	70	0		1	1		0	0	13	0		9.998427e-01	8.868525e-01	0	4	0	18	0	14	70
SLC34A3	142680	broad.mit.edu	37	9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	269					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627																																						ENST00000538474.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999088	0.990000	1.000000																										0				13						c.(805-807)aGc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							82.0	80.0	80.0					9																	140128134		2203	4300	6503	SO:0001583	missense	142680	0	0					g.chr9:140128134G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.806G>T	chr9.hg19:g.140128134G>T	ENSP00000442397:p.Ser269Ile	0					SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	0	0	0	1.937903	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	8	1030	+	all_cancers(76;0.0926)		A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	1	1	hg19	c.806G>T	CCDS7038.1	1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643950	0.14451	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.32753	1.44;1.44	3.05	2.13	0.27403	3.05	2.13	0.27403	.	0.761983	0.11378	N	0.570085	T	0.23330	0.0564	L	0.47190	1.495	0.24118	N	0.995812	P	0.38335	0.627	B	0.31614	0.133	T	0.10823	-1.0613	10	0.54805	T	0.06	-3.5643	7.8826	0.29631	0.1326:0.0:0.8674:0.0	.	269	Q8N130	NPT2C_HUMAN	I	269	ENSP00000442397:S269I;ENSP00000355353:S269I	ENSP00000355353:S269I	S	+	2	0	0	SLC34A3	139247955	139247955	0.937000	0.31787	0.618000	0.29105	0.024000	0.10985	2.459000	0.45023	0.591000	0.29711	0.462000	0.41574	AGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-19.988980	1	0.170000	NM_080877			60	60		464	455	0		1			0	0	119	0		1	0	0	0	0	0	0	60	464
SLC34A3	142680	broad.mit.edu	37	9	140128878	140128878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	368					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716																																						ENST00000538474.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				13						c.(1102-1104)ttC>ttT		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							9.0	12.0	11.0					9																	140128878		2146	4241	6387	SO:0001819	synonymous_variant	142680	0	0					g.chr9:140128878C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1104C>T	chr9.hg19:g.140128878C>T		0					SLC34A3_ENST00000361134.2_Silent_p.F368F	p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	0	0	0	1.937903	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	11	1328	+	all_cancers(76;0.0926)		A2BFA1	Silent	SNP	ENST00000538474.1	1	1	hg19	c.1104C>T	CCDS7038.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	1		2	2	2	0		0	0	29		29	23	1	2.060000	-20.000000	1	0.170000	NM_080877			33	30		121	102	0		1			0	0	29	0		1	0	0	0	0	0	0	33	121
SLC34A3	142680	broad.mit.edu	37	9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	460					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1378-1380)Ctg>Atg		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							60.0	57.0	58.0					9																	140130446		2202	4294	6496	SO:0001583	missense	142680	0	0					g.chr9:140130446C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1378C>A	chr9.hg19:g.140130446C>A	ENSP00000442397:p.Leu460Met	0		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	0	0	0	1.937903	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	13	1602	+	all_cancers(76;0.0926)		A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	1	1	hg19	c.1378C>A	CCDS7038.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725024	0.48833	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88277	-2.36;-2.36	4.11	1.11	0.20524	4.11	1.11	0.20524	.	0.148979	0.29321	N	0.012482	D	0.90417	0.7000	M	0.74258	2.255	0.28738	N	0.902132	D	0.56287	0.975	P	0.57720	0.826	D	0.84038	0.0363	10	0.87932	D	0	-4.6612	4.7646	0.13127	0.1719:0.6313:0.0:0.1968	.	460	Q8N130	NPT2C_HUMAN	M	460	ENSP00000442397:L460M;ENSP00000355353:L460M	ENSP00000355353:L460M	L	+	1	2	2	SLC34A3	139250267	139250267	0.990000	0.36364	0.886000	0.34754	0.730000	0.41778	0.730000	0.26043	0.124000	0.18369	0.407000	0.27541	CTG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	1		2	2	2	0		0	0	116		116	115	1	2.060000	-20.000000	1	0.170000	NM_080877			91	90		453	447	1		1			0	0	116	0		1	0	0	0	0	0	0	91	453
FAM166A	401565	broad.mit.edu	37	9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	269						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607																																						ENST00000344774.4	1.000000	0.460000	9.300000e-01	5.900000e-01	0.740000	0.759208	0.740000	1.000000																										0				15						c.(805-807)Ccc>Acc		family with sequence similarity 166, member A							129.0	99.0	109.0					9																	140138683		2203	4300	6503	SO:0001583	missense	401565	0	0					g.chr9:140138683G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.805C>A	chr9.hg19:g.140138683G>T	ENSP00000344729:p.Pro269Thr	0						p.P269T	NM_001001710.1	NP_001001710.1	0	0	0	1.937903	Q6J272	F166A_HUMAN		6	859	-			A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	1	1	hg19	c.805C>A	CCDS35186.1	0	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685172	0.47991	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.080970	0.50627	D	0.000108	T	0.74099	0.3672	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70543	-0.4843	9	0.28530	T	0.3	-18.8756	16.0952	0.81114	0.0:0.0:1.0:0.0	.	269	Q6J272	F166A_HUMAN	T	269	.	ENSP00000344729:P269T	P	-	1	0	0	FAM166A	139258504	139258504	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.678000	0.74508	2.474000	0.83562	0.549000	0.68633	CCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-19.983100	1	0.170000	NM_001001710			18	18		256	253	0		1			0	0	60	0		9.999829e-01	0	0	0	0	0	0	18	256
FAM166A	401565	broad.mit.edu	37	9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	126						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622																																						ENST00000344774.4	0.690000	0.340000	6.000000e-01	4.200000e-01	0.500000	0.517625	0.500000	0.500000																										0				15						c.(376-378)Ctg>Atg		family with sequence similarity 166, member A							84.0	99.0	94.0					9																	140139905		2203	4300	6503	SO:0001583	missense	401565	0	0					g.chr9:140139905G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.376C>A	chr9.hg19:g.140139905G>T	ENSP00000344729:p.Leu126Met	0					FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	p.L126M	NM_001001710.1	NP_001001710.1	0	0	0	1.937903	Q6J272	F166A_HUMAN		3	430	-			A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	1	1	hg19	c.376C>A	CCDS35186.1	0	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074671	0.07184	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	3.29	0.37713	5.23	3.29	0.37713	.	0.996122	0.08132	N	0.993040	T	0.42810	0.1219	M	0.67953	2.075	0.09310	N	1	P	0.48911	0.917	B	0.41988	0.372	T	0.23190	-1.0195	9	0.38643	T	0.18	-2.6202	8.3479	0.32284	0.0:0.1705:0.6527:0.1767	.	126	Q6J272	F166A_HUMAN	M	126;126;153	.	ENSP00000344729:L126M	L	-	1	2	2	FAM166A	139259726	139259726	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.677000	0.25262	0.520000	0.28426	0.561000	0.74099	CTG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-4.756504	1	0.170000	NM_001001710			30	31		645	635	0		1			0	0	112	0		1	0	0	0	0	0	0	30	645
C9orf173	441476	broad.mit.edu	37	9	140146307	140146307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140146307G>T	ENST00000412566.1	+	2	237	c.228G>T	c.(226-228)caG>caT	p.Q76H	C9orf173_ENST00000388931.3_Missense_Mutation_p.Q76H			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647																																						ENST00000412566.1	1.000000	0.260000	1	4.500000e-01	0.730000	0.724716	0.730000	1.000000																										0				8						c.(226-228)caG>caT		chromosome 9 open reading frame 173							28.0	38.0	35.0					9																	140146307		1944	4125	6069	SO:0001583	missense	441476	0	0					g.chr9:140146307G>T		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.228G>T	chr9.hg19:g.140146307G>T	ENSP00000391218:p.Gln76His	0					C9orf173_ENST00000388931.3_Missense_Mutation_p.Q76H	p.Q76H			0	0	0	1.937903	Q8N7X2	CI173_HUMAN		2	237	+			A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	0	1	hg19	c.228G>T	CCDS48065.1	0	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170606	0.38315	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.47528	0.84;0.86	3.79	-0.842	0.10748	3.79	-0.842	0.10748	.	1.853770	0.03291	N	0.187588	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.004;0.004	B;B;B;B	0.08055	0.001;0.003;0.003;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	1.329	2.382	0.04357	0.1111:0.3402:0.3604:0.1883	.	76;76;76;76	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	H	76	ENSP00000373583:Q76H;ENSP00000391218:Q76H	ENSP00000373583:Q76H	Q	+	3	2	2	C9orf173	139266128	139266128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.163000	0.16520	-0.275000	0.09219	0.561000	0.74099	CAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-8.624546	1	0.170000	NM_001004353			4	4		60	59	0		1			0	0	13	0		8.888247e-01	0	0	0	0	0	0	4	60
EXD3	54932	broad.mit.edu	37	9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T	rs200221658	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652																																						ENST00000340951.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999869	0.990000	1.000000																										0				12						c.(2617-2619)aGc>aAc		exonuclease 3'-5' domain containing 3							17.0	21.0	20.0					9																	140201415		1901	4097	5998	SO:0001583	missense	54932	0	0					g.chr9:140201415C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2618G>A	chr9.hg19:g.140201415C>T	ENSP00000340474:p.Ser873Asn	0					EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	p.S873N	NM_017820.3	NP_060290.3	0	0	0	1.937903	Q9NX53	MUT7B_HUMAN		22	2813	-			Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	1	1	hg19	c.2618G>A	CCDS48066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346028	0.41599	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66815	-0.23;0.66	2.84	2.84	0.33178	2.84	2.84	0.33178	.	.	.	.	.	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.818	B;B	0.41174	0.349;0.257	T	0.32640	-0.9899	9	0.27082	T	0.32	.	9.2217	0.37382	0.0:1.0:0.0:0.0	.	511;873	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	511;873	ENSP00000343705:S511N;ENSP00000340474:S873N	ENSP00000340474:S873N	S	-	2	0	0	EXD3	139321236	139321236	0.000000	0.05858	0.019000	0.16419	0.185000	0.23345	0.565000	0.23578	1.576000	0.49790	0.491000	0.48974	AGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	1	0	1		2	2	2	0		0	0	23		23	21	1	2.060000	-4.216111	1	0.170000	NM_017820			30	29		156	150	1		1	1		0	0	23	0		1	7.405748e-02	0	2	0	1	0	30	156
EXD3	54932	broad.mit.edu	37	9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A	rs575618411		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667																																						ENST00000340951.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(2122-2124)aaG>aaT		exonuclease 3'-5' domain containing 3																																				SO:0001583	missense	54932	0	0					g.chr9:140218237C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2124G>T	chr9.hg19:g.140218237C>A	ENSP00000340474:p.Lys708Asn	0					EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	p.K708N	NM_017820.3	NP_060290.3	0	0	0	1.937903	Q9NX53	MUT7B_HUMAN		19	2319	-			Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	1	1	hg19	c.2124G>T	CCDS48066.1	1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833936	0.16820	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65364	-0.15;0.65	3.9	0.306	0.15806	3.9	0.306	0.15806	.	0.652919	0.14754	N	0.300382	T	0.66247	0.2770	M	0.63843	1.955	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.58520	0.785;0.84	T	0.54814	-0.8237	10	0.45353	T	0.12	.	5.5666	0.17175	0.0:0.499:0.2567:0.2443	.	359;708	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	359;708	ENSP00000343705:K359N;ENSP00000340474:K708N	ENSP00000340474:K708N	K	-	3	2	2	EXD3	139338058	139338058	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.033000	0.13754	0.112000	0.17975	0.305000	0.20034	AAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	0	0	1		23	2	2	1		1	1	44		44	43	1	2.060000	-20.000000	1	0.170000	NM_017820			72	72		271	268	0		1	1		1	0	44	0		1	7.048501e-01	0	4	0	7	0	72	271
EXD3	54932	broad.mit.edu	37	9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667																																						ENST00000340951.4	1.000000	0.420000	8.500000e-01	5.400000e-01	0.680000	0.702428	0.680000	1.000000																										0				12						c.(427-429)Gtc>Atc		exonuclease 3'-5' domain containing 3							31.0	38.0	36.0					9																	140267392		2085	4209	6294	SO:0001583	missense	54932	2	120798	30				g.chr9:140267392C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.427G>A	chr9.hg19:g.140267392C>T	ENSP00000340474:p.Val143Ile	0					EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	p.V143I	NM_017820.3	NP_060290.3	0	0	0	1.937903	Q9NX53	MUT7B_HUMAN		5	622	-			Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	1	1	hg19	c.427G>A	CCDS48066.1	0	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183685	0.01620	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52526	0.66;1.15	4.3	-1.78	0.07957	4.3	-1.78	0.07957	.	0.535908	0.19500	N	0.112760	T	0.28863	0.0716	L	0.43152	1.355	0.18873	N	0.999988	B;B	0.31968	0.195;0.349	B;B	0.17722	0.008;0.019	T	0.17471	-1.0368	10	0.19590	T	0.45	.	8.4683	0.32969	0.0:0.5041:0.0:0.4959	.	143;143	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	I	143	ENSP00000340474:V143I;ENSP00000431859:V143I	ENSP00000340474:V143I	V	-	1	0	0	EXD3	139387213	139387213	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.175000	0.09825	-0.873000	0.04032	0.313000	0.20887	GTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	1	0	0		2	2	2	0		0	0	63		63	62	1	2.060000	-19.940430	1	0.170000	NM_017820			18	18		281	279	0		1	0		0	0	63	0		9.999831e-01	3.377819e-01	0	1	0	18	0	18	281
ENTPD8	377841	broad.mit.edu	37	9	140329483	140329483	+	Silent	SNP	C	C	T	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000472938.1	-	9	1387	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_ENST00000344119.2_Silent_p.P420P|ENTPD8_ENST00000371506.2_Silent_p.P457P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	457					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677																																						ENST00000472938.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				7						c.(1369-1371)ccG>ccA		ectonucleoside triphosphate diphosphohydrolase 8		C	,	0,4394		0,0,2197	49.0	48.0	49.0		1371,1260	-10.1	0.0	9	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ENTPD8	NM_001033113.1,NM_198585.2	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	457/496,420/459	140329483	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	377841	7	121114	39				g.chr9:140329483C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1371G>A	chr9.hg19:g.140329483C>T		0					ENTPD8_ENST00000371506.2_Silent_p.P457P|ENTPD8_ENST00000344119.2_Silent_p.P420P	p.P457P			0	0	0	1.937903	Q5MY95	ENTP8_HUMAN		9	1387	-	all_cancers(76;0.0926)		A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	1	1	hg19	c.1371G>A	CCDS43913.1	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	1	0	1		2	2	2	0		0	0	36		36	26	1	2.060000	-20.000000	1	0.170000	NM_198585			35	33		123	108	1		1	1		0	0	36	0		1	8.716760e-01	0	13	0	2	0	35	123
ENTPD8	377841	broad.mit.edu	37	9	140330977	140330977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	ENST00000472938.1	-	5	798	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000371506.2_Missense_Mutation_p.V261A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	261					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGACCTGTACCAGCCCCAC	0.662																																						ENST00000472938.1	1.000000	0.920000	1	9.900000e-01	0.990000	0.994954	0.990000	1.000000																										0				7						c.(781-783)gTa>gCa		ectonucleoside triphosphate diphosphohydrolase 8							23.0	23.0	23.0					9																	140330977		2194	4294	6488	SO:0001583	missense	377841	0	0					g.chr9:140330977A>G	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.782T>C	chr9.hg19:g.140330977A>G	ENSP00000420531:p.Val261Ala	0					ENTPD8_ENST00000371506.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A	p.V261A			0	0	0	1.937903	Q5MY95	ENTP8_HUMAN		5	798	-	all_cancers(76;0.0926)		A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	0	1	hg19	c.782T>C	CCDS43913.1	1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353960	0.24512	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12984	2.63;2.63;2.63	3.99	-2.05	0.07321	3.99	-2.05	0.07321	.	0.621973	0.13266	N	0.400894	T	0.09069	0.0224	L	0.50847	1.595	0.22639	N	0.998904	B;B	0.14012	0.005;0.009	B;B	0.17979	0.013;0.02	T	0.36962	-0.9726	10	0.21014	T	0.42	8.9172	1.613	0.02698	0.4808:0.1314:0.2591:0.1287	.	261;261	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	A	261	ENSP00000344089:V261A;ENSP00000360561:V261A;ENSP00000420531:V261A	ENSP00000344089:V261A	V	-	2	0	0	ENTPD8	139450798	139450798	0.000000	0.05858	0.825000	0.32803	0.036000	0.12997	-0.289000	0.08365	-0.149000	0.11215	0.379000	0.24179	GTA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-19.498070	1	0.170000	NM_198585			10	10		40	40	0		1	1		0	0	13	0		9.978692e-01	3.715275e-01	0	4	0	2	0	10	40
ENTPD8	377841	broad.mit.edu	37	9	140331021	140331021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000472938.1	-	5	754	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000344119.2_Silent_p.C246C|ENTPD8_ENST00000371506.2_Silent_p.C246C			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	246					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632																																						ENST00000472938.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.993955	0.990000	1.000000																										0				7						c.(736-738)tgC>tgT		ectonucleoside triphosphate diphosphohydrolase 8							38.0	35.0	36.0					9																	140331021		2198	4297	6495	SO:0001819	synonymous_variant	377841	0	0					g.chr9:140331021G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.738C>T	chr9.hg19:g.140331021G>A		0					ENTPD8_ENST00000371506.2_Silent_p.C246C|ENTPD8_ENST00000344119.2_Silent_p.C246C	p.C246C			0	0	0	1.937903	Q5MY95	ENTP8_HUMAN		5	754	-	all_cancers(76;0.0926)		A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	1	0	hg19	c.738C>T	CCDS43913.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644662	0.29246	.	.	ENSG00000188833	ENST00000493135	T	0.48201	0.82	4.36	4.36	0.52297	4.36	4.36	0.52297	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64854	-0.6309	6	0.52906	T	0.07	-2.6203	15.6194	0.76793	0.0:0.0:1.0:0.0	.	.	.	.	F	221	ENSP00000420099:L221F	ENSP00000420099:L221F	L	-	1	0	0	ENTPD8	139450842	139450842	1.000000	0.71417	0.982000	0.44146	0.455000	0.32408	3.237000	0.51344	2.257000	0.74773	0.462000	0.41574	CTT	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-19.999220	1	0.170000	NM_198585			13	13		71	70	1		1	1		0	0	18	0		9.996538e-01	5.891366e-01	0	10	0	2	0	13	71
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	rs538892595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.001					ENST00000277531.4	0.790000	0.310000	6.600000e-01	4.000000e-01	0.520000	0.536896	0.520000	0.510000																										0				40						c.(2842-2844)gCg>gTg		patatin-like phospholipase domain containing 7							87.0	72.0	77.0					9																	140361890		2203	4299	6502	SO:0001583	missense	375775	3	121350	32				g.chr9:140361890G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	chr9.hg19:g.140361890G>A	ENSP00000277531:p.Ala948Val	0					PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V|PNPLA7_ENST00000492278.1_5'UTR	p.A948V	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		25	3029	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.2843C>T	CCDS7045.1	0	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	0	PNPLA7	139481711	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.211409	1	0.170000	NM_152286			16	16		337	335	0		1	0		0	0	69	0		9.999348e-01	1.791018e-01	0	0	0	16	0	16	337
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	rs150851825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C|PNPLA7_ENST00000492278.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16521	0.0		0.001	False		,,,				2504	0.0					ENST00000277531.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999894	0.990000	1.000000																										1	Substitution - Missense(1)	p.R816C(1)	large_intestine(1)	40						c.(2446-2448)Cgc>Tgc		patatin-like phospholipase domain containing 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	47.0	50.0		2521,2446	4.9	1.0	9	dbSNP_134	50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	841/1343,816/1318	140374823	2,13002	2203	4299	6502	SO:0001583	missense	375775	4	121382	36				g.chr9:140374823G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2446C>T	chr9.hg19:g.140374823G>A	ENSP00000277531:p.Arg816Cys	0					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C|PNPLA7_ENST00000492278.1_5'Flank	p.R816C	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		22	2632	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.2446C>T	CCDS7045.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	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;1.0;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	0	PNPLA7	139494644	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_152286			42	42		256	252	1		1	0		0	0	53	0		1	1.538994e-01	0	1	0	4	0	42	256
PNPLA7	375775	broad.mit.edu	37	9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000277531.4	-	16	1942	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	586					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.0					ENST00000277531.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1756-1758)Cgg>Tgg		patatin-like phospholipase domain containing 7		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	154.0	116.0	129.0		1831,1756	2.2	1.0	9	dbSNP_134	129	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	611/1343,586/1318	140392624	1,12999	2201	4299	6500	SO:0001583	missense	375775	11	121186	42				g.chr9:140392624G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1756C>T	chr9.hg19:g.140392624G>A	ENSP00000277531:p.Arg586Trp	0					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W	p.R586W	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		16	1942	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.1756C>T	CCDS7045.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974443	0.74246	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	2.19	0.27852	4.4	2.19	0.27852	Cyclic nucleotide-binding-like (2);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-25.6295	11.2036	0.48756	0.0:0.0:0.6261:0.3739	.	611;586	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	192;586;611;586;577	ENSP00000360512:R192W;ENSP00000277531:R586W;ENSP00000384610:R611W;ENSP00000400582:R577W	ENSP00000277531:R586W	R	-	1	2	2	PNPLA7	139512445	139512445	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.023000	0.13533	0.859000	0.35456	0.448000	0.29417	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-2.893080	1	0.170000	NM_152286			65	65		335	327	1		1	1		0	0	61	0		1	1.922688e-01	0	2	0	3	0	65	335
PNPLA7	375775	broad.mit.edu	37	9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000277531.4	-	13	1449	c.1263C>A	c.(1261-1263)agC>agA	p.S421R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562																																						ENST00000277531.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1261-1263)agC>agA		patatin-like phospholipase domain containing 7							153.0	134.0	141.0					9																	140400201		2203	4300	6503	SO:0001583	missense	375775	1	121412	37				g.chr9:140400201G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1263C>A	chr9.hg19:g.140400201G>T	ENSP00000277531:p.Ser421Arg	0					PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	p.S421R	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		13	1449	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.1263C>A	CCDS7045.1	1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410125	0.11812	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.23;0.23;0.24	4.26	-8.53	0.00916	4.26	-8.53	0.00916	.	0.823959	0.11124	N	0.597110	T	0.59238	0.2179	L	0.57536	1.79	0.37440	D	0.914394	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.11690	-1.0577	10	0.37606	T	0.19	-2.0329	11.2443	0.48987	0.7541:0.0:0.129:0.1169	.	446;421	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	27;421;446;421;412	ENSP00000360512:S27R;ENSP00000277531:S421R;ENSP00000384610:S446R;ENSP00000400582:S412R	ENSP00000277531:S421R	S	-	3	2	2	PNPLA7	139520022	139520022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.997000	0.01470	-2.187000	0.00759	-0.482000	0.04802	AGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1		2	2	2	0		0	0	135		135	134	1	2.060000	-20.000000	1	0.170000	NM_152286			112	112		575	564	1		1	1		0	0	135	0		1	8.160757e-01	0	2	0	16	0	112	575
PNPLA7	375775	broad.mit.edu	37	9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000277531.4	-	9	1039	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	285					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592																																						ENST00000277531.4	1.000000	0.570000	1	6.900000e-01	0.830000	0.838942	0.830000	1.000000																										0				40						c.(853-855)Ctc>Atc		patatin-like phospholipase domain containing 7							171.0	138.0	149.0					9																	140416117		2203	4300	6503	SO:0001583	missense	375775	0	0					g.chr9:140416117G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.853C>A	chr9.hg19:g.140416117G>T	ENSP00000277531:p.Leu285Ile	0					PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	p.L285I	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		9	1039	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.853C>A	CCDS7045.1	0	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563386	0.45694	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.76968	1.24;-1.04;-1.06;-1.01	4.75	1.35	0.21983	4.75	1.35	0.21983	.	0.160277	0.42964	D	0.000622	D	0.86222	0.5881	M	0.83483	2.645	0.21822	N	0.999529	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.956	T	0.76838	-0.2811	10	0.87932	D	0	-18.4941	9.378	0.38295	0.2962:0.0:0.7038:0.0	.	16;310;285	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	I	16;285;310;285;276;310	ENSP00000360501:L16I;ENSP00000277531:L285I;ENSP00000384610:L310I;ENSP00000400582:L276I	ENSP00000277531:L285I	L	-	1	0	0	PNPLA7	139535938	139535938	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.341000	0.43983	0.422000	0.26005	0.313000	0.20887	CTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	0		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_152286			28	28		351	348	0		1	0		0	0	73	0		1	1.475329e-01	0	0	0	9	0	28	351
PNPLA7	375775	broad.mit.edu	37	9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000277531.4	-	5	508	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	108					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572																																						ENST00000277531.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(322-324)Ctg>Atg		patatin-like phospholipase domain containing 7							42.0	46.0	44.0					9																	140437993		2203	4300	6503	SO:0001583	missense	375775	0	0					g.chr9:140437993G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.322C>A	chr9.hg19:g.140437993G>T	ENSP00000277531:p.Leu108Met	0					AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	p.L108M	NM_152286.3	NP_689499.3	0	0	0	1.937903	Q6ZV29	PLPL7_HUMAN		5	508	-	all_cancers(76;0.126)		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	1	1	hg19	c.322C>A	CCDS7045.1	1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519916	0.64634	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.64438	-0.09;-0.1;-0.08	4.19	0.496	0.16896	4.19	0.496	0.16896	.	0.084717	0.49916	D	0.000137	T	0.72415	0.3457	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.70769	-0.4782	10	0.66056	D	0.02	-17.7145	8.5224	0.33285	0.3393:0.0:0.6607:0.0	.	133;108	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	M	108;133;108;99;133	ENSP00000277531:L108M;ENSP00000384610:L133M;ENSP00000400582:L99M	ENSP00000277531:L108M	L	-	1	2	2	PNPLA7	139557814	139557814	1.000000	0.71417	0.843000	0.33291	0.982000	0.71751	2.622000	0.46427	0.135000	0.18707	0.563000	0.77884	CTG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_152286			53	51		273	269	1		1	1		0	0	51	0		1	5.058259e-01	0	3	0	7	0	53	273
ZMYND19	116225	broad.mit.edu	37	9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A	rs368548125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617																																						ENST00000298585.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(223-225)Cgg>Tgg		zinc finger, MYND-type containing 19		G	TRP/ARG	0,4406		0,0,2203	47.0	56.0	53.0		223	4.2	1.0	9		53	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZMYND19	NM_138462.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	75/228	140481555	1,13003	2203	4299	6502	SO:0001583	missense	116225	1	121356	27				g.chr9:140481555G>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.223C>T	chr9.hg19:g.140481555G>A	ENSP00000298585:p.Arg75Trp	0					ZMYND19_ENST00000471957.1_5'UTR	p.R75W	NM_138462.2	NP_612471.1	0	0	0	1.937903	Q96E35	ZMY19_HUMAN		4	449	-	all_cancers(76;0.106)		Q5T366	Missense_Mutation	SNP	ENST00000298585.2	1	1	hg19	c.223C>T	CCDS7048.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177643	0.78564	0.0	1.16E-4	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.53530	0.1802	L	0.29908	0.895	0.50171	D	0.999857	D	0.69078	0.997	D	0.63597	0.916	T	0.56541	-0.7962	9	0.87932	D	0	-14.4175	6.0353	0.19704	0.0904:0.0:0.6267:0.2829	.	75	Q96E35	ZMY19_HUMAN	W	75	.	ENSP00000298585:R75W	R	-	1	2	2	ZMYND19	139601376	139601376	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.002000	0.49496	1.355000	0.45865	0.655000	0.94253	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-20.000000	1	0.170000	NM_138462			84	83		464	459	1		1	1		0	0	81	0		1	9.999995e-01	0	44	0	71	0	84	464
ARRDC1	92714	broad.mit.edu	37	9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	101						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597																																						ENST00000371421.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(301-303)Gag>Aag		arrestin domain containing 1							120.0	106.0	110.0					9																	140508087		2203	4300	6503	SO:0001583	missense	92714	0	0					g.chr9:140508087G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.301G>A	chr9.hg19:g.140508087G>A	ENSP00000360475:p.Glu101Lys	0					C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	p.E101K	NM_152285.2	NP_689498.1	0	0	0	1.937903	Q8N5I2	ARRD1_HUMAN		4	365	+	all_cancers(76;0.106)			Missense_Mutation	SNP	ENST00000371421.4	1	1	hg19	c.301G>A	CCDS7049.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.359037	0.95854	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	5.65	5.65	0.86999	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.095855	0.64402	D	0.000001	T	0.47078	0.1426	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	D;D;D	0.81914	0.914;0.995;0.936	T	0.46693	-0.9173	10	0.72032	D	0.01	-9.174	18.7737	0.91901	0.0:0.0:1.0:0.0	.	101;101;101	Q5T371;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	K	101	ENSP00000360475:E101K;ENSP00000406247:E101K;ENSP00000406833:E101K	ENSP00000360475:E101K	E	+	1	0	0	ARRDC1	139627908	139627908	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.052000	0.93855	2.684000	0.91462	0.555000	0.69702	GAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_152285			85	84		358	352	1		1	1		0	0	84	0		1	1	0	180	0	274	0	85	358
ARRDC1	92714	broad.mit.edu	37	9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	218						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682																																						ENST00000371421.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(652-654)Gac>Aac		arrestin domain containing 1							65.0	74.0	71.0					9																	140508784		2202	4299	6501	SO:0001583	missense	92714	3	121328	37				g.chr9:140508784G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.652G>A	chr9.hg19:g.140508784G>A	ENSP00000360475:p.Asp218Asn	0					C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	p.D218N	NM_152285.2	NP_689498.1	0	0	0	1.937903	Q8N5I2	ARRD1_HUMAN		6	716	+	all_cancers(76;0.106)			Missense_Mutation	SNP	ENST00000371421.4	1	1	hg19	c.652G>A	CCDS7049.1	1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915370	0.73098	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.17691	3.29;2.26	5.15	4.25	0.50352	5.15	4.25	0.50352	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.28808	-1.0032	10	0.56958	D	0.05	-8.9991	12.5194	0.56050	0.0808:0.0:0.9192:0.0	.	107;218;182	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	N	218;182	ENSP00000360475:D218N;ENSP00000406833:D182N	ENSP00000360475:D218N	D	+	1	0	0	ARRDC1	139628605	139628605	1.000000	0.71417	0.599000	0.28851	0.570000	0.35934	9.262000	0.95591	1.170000	0.42753	0.555000	0.69702	GAC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	1	0	1		2	2	2	0		0	0	127		127	123	1	2.060000	-20.000000	1	0.170000	NM_152285			150	149		614	605	1		1	1		0	0	127	0		1	1	0	110	0	156	0	150	614
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A	rs377174218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672																																						ENST00000371417.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				3						c.(442-444)Cgg>Tgg				G	TRP/ARG	0,4404		0,0,2202	32.0	30.0	31.0		442	-3.6	0.0	9		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf37	NM_032937.4	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	148/177	140510210	1,13003	2202	4300	6502	SO:0001583	missense	0	5	121382	33				g.chr9:140510210G>A																												ENST00000371417.3:c.442C>T	chr9.hg19:g.140510210G>A	ENSP00000360471:p.Arg148Trp	0					C9orf37_ENST00000496793.1_5'UTR	p.R148W	NM_032937.4	NP_116326.2	0	0	0	1.937903	Q9H2J1	CI037_HUMAN		3	982	-	all_cancers(76;0.106)		Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	1	1	hg19	c.442C>T	CCDS35189.1	1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111259	0.20714	0.0	1.16E-4	ENSG00000203993	ENST00000371417	.	.	.	1.8	-3.61	0.04556	1.8	-3.61	0.04556	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	3.1811	0.06584	0.2721:0.0:0.4737:0.2542	.	148	Q9H2J1	CI037_HUMAN	W	148	.	ENSP00000360471:R148W	R	-	1	2	2	C9orf37	139630031	139630031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.872000	0.01639	-0.726000	0.04895	-0.734000	0.03567	CGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1	1	0	1		2	2	2	0		0	0	37		37	35	1	2.060000	-20.000000	1	0.170000				36	35		148	144	1		1	1		0	0	37	0		1	9.998466e-01	0	15	0	43	0	36	148
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000460843.1	+	3	440	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567																																						ENST00000460843.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(412-414)aGg>aAg		euchromatic histone-lysine N-methyltransferase 1							64.0	67.0	66.0					9																	140611405		2202	4299	6501	SO:0001583	missense	79813	0	0					g.chr9:140611405G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.413G>A	chr9.hg19:g.140611405G>A	ENSP00000417980:p.Arg138Lys	0					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K	p.R138K	NM_024757.4	NP_079033.4	0	0	0	1.937903	Q9H9B1	EHMT1_HUMAN		3	440	+	all_cancers(76;0.164)		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	1	1	hg19	c.413G>A	CCDS7050.2	1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673887	0.88445	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.79033	0.74;-0.0;-1.23	6.0	5.11	0.69529	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67953	2.075	0.43160	D	0.99494	D;D;D	0.76494	0.986;0.997;0.999	D;D;D	0.81914	0.968;0.991;0.995	D	0.88340	0.2974	10	0.72032	D	0.01	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	107;107;138;138	ENSP00000334476:R107K;ENSP00000417328:R138K;ENSP00000417980:R138K	ENSP00000334476:R107K	R	+	2	0	0	EHMT1	139731226	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-3.238019	1	0.170000	NM_024757			78	77		390	383	1		1	1		0	0	99	0		1	9.999649e-01	0	12	0	64	0	78	390
EHMT1	79813	broad.mit.edu	37	9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000460843.1	+	13	2056	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	677					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602																																						ENST00000460843.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(2029-2031)Cca>Tca		euchromatic histone-lysine N-methyltransferase 1							101.0	118.0	112.0					9																	140672344		2203	4300	6503	SO:0001583	missense	79813	0	0					g.chr9:140672344C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2029C>T	chr9.hg19:g.140672344C>T	ENSP00000417980:p.Pro677Ser	0					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S	p.P677S	NM_024757.4	NP_079033.4	0	0	0	1.937903	Q9H9B1	EHMT1_HUMAN		13	2056	+	all_cancers(76;0.164)		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	1	1	hg19	c.2029C>T	CCDS7050.2	1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312869	0.23908	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.68181	1.79;1.04;-0.31	4.66	-0.427	0.12310	4.66	-0.427	0.12310	.	0.780783	0.11933	N	0.515534	T	0.37210	0.0995	N	0.11427	0.14	0.09310	N	1	B;B;B	0.24132	0.002;0.098;0.004	B;B;B	0.23716	0.003;0.048;0.009	T	0.19844	-1.0293	10	0.13470	T	0.59	.	2.8511	0.05558	0.3537:0.4192:0.1222:0.1049	.	677;646;677	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	646;646;677;677	ENSP00000334476:P646S;ENSP00000417328:P677S;ENSP00000417980:P677S	ENSP00000334476:P646S	P	+	1	0	0	EHMT1	139792165	139792165	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.106000	0.17784	0.561000	0.74099	CCA	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1		2	2	2	0		0	0	216		216	214	1	2.060000	-20.000000	1	0.170000	NM_024757			194	193		972	959	1		1	1		0	0	216	0		1	9.999910e-01	0	17	0	64	0	194	972
EHMT1	79813	broad.mit.edu	37	9	140711975	140711975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1153	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612																																						ENST00000460843.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999801	0.990000	1.000000																										0				41						c.(3457-3459)tgC>tgT		euchromatic histone-lysine N-methyltransferase 1							71.0	69.0	70.0					9																	140711975		2203	4300	6503	SO:0001819	synonymous_variant	79813	0	0					g.chr9:140711975C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3459C>T	chr9.hg19:g.140711975C>T		0						p.C1153C	NM_024757.4	NP_079033.4	0	0	0	1.937903	Q9H9B1	EHMT1_HUMAN		24	3486	+	all_cancers(76;0.164)		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	1	1	hg19	c.3459C>T	CCDS7050.2	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-3.319584	1	0.170000	NM_024757			42	41		268	264	1		1	1		0	0	58	0		1	9.997740e-01	0	3	0	80	0	42	268
EHMT1	79813	broad.mit.edu	37	9	140728842	140728842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667																																						ENST00000460843.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(3580-3582)aaC>aaT		euchromatic histone-lysine N-methyltransferase 1							70.0	67.0	68.0					9																	140728842		2202	4300	6502	SO:0001819	synonymous_variant	79813	0	0					g.chr9:140728842C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3582C>T	chr9.hg19:g.140728842C>T		0						p.N1194N	NM_024757.4	NP_079033.4	0	0	0	1.937903	Q9H9B1	EHMT1_HUMAN		26	3609	+	all_cancers(76;0.164)		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	1	1	hg19	c.3582C>T	CCDS7050.2	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_024757			56	56		248	246	1		1	1		0	0	69	0		1	9.999997e-01	0	15	0	87	0	56	248
EHMT1	79813	broad.mit.edu	37	9	140729348	140729348	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	ENST00000460843.1	+	27	3867	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGCCCAGGAGGCCCAGGAGG	0.756																																						ENST00000460843.1	1.000000	0.970000	1	9.900000e-01	0.990000	0.997306	0.990000	1.000000																										0				41						c.(3838-3840)gaG>gaA		euchromatic histone-lysine N-methyltransferase 1							10.0	11.0	11.0					9																	140729348		2161	4158	6319	SO:0001819	synonymous_variant	79813	0	0					g.chr9:140729348G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3840G>A	chr9.hg19:g.140729348G>A		0						p.E1280E	NM_024757.4	NP_079033.4	0	0	0	1.937903	Q9H9B1	EHMT1_HUMAN		27	3867	+	all_cancers(76;0.164)		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	0	1	hg19	c.3840G>A	CCDS7050.2	1																																																																																								1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.756	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	0	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-20.000000	1	0.170000	NM_024757			19	19		112	111	0		1			0	0	19	0		9.999940e-01	0	0	0	0	0	0	19	112
CACNA1B	774	broad.mit.edu	37	9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	254					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)			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)	AGGCCTGTTTCCCCAACAGCA	0.562																																						ENST00000371372.1	1.000000	0.910000	1	9.900000e-01	0.990000	0.995184	0.990000	1.000000																										0				80						c.(760-762)ttC>ttA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						83.0	81.0	82.0					9																	140809245		2129	4252	6381	SO:0001583	missense	774	0	0					g.chr9:140809245C>A	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.762C>A	chr9.hg19:g.140809245C>A	ENSP00000360423:p.Phe254Leu	0					CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L	p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	0	0	0	1.937903	Q00975	CAC1B_HUMAN		5	907	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	1	1	hg19	c.762C>A	CCDS59522.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151009	0.38021	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.34	3.44	0.39384	4.34	3.44	0.39384	.	0.111472	0.64402	D	0.000006	D	0.95887	0.8661	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.45753	0.492	D	0.94161	0.7414	10	0.51188	T	0.08	.	8.9929	0.36035	0.0:0.8203:0.0:0.1797	.	254	B1AQK6	.	L	254	ENSP00000360423:F254L;ENSP00000277551:F254L;ENSP00000360414:F254L;ENSP00000360408:F254L;ENSP00000360406:F254L	ENSP00000277551:F254L	F	+	3	2	2	CACNA1B	139929066	139929066	0.980000	0.34600	0.998000	0.56505	0.929000	0.56500	2.042000	0.41222	1.011000	0.39340	0.561000	0.74099	TTC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-20.000000	1	0.170000	NM_000718			19	18		123	118	1		1			0	0	25	0		9.999910e-01	0	0	0	0	0	0	19	123
CACNA1B	774	broad.mit.edu	37	9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000371372.1	+	28	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1377					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)			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)	TCCGTGGATGCCACCTATGAG	0.547																																						ENST00000371372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(4129-4131)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						166.0	154.0	158.0					9																	140952524		2020	4201	6221	SO:0001583	missense	774	0	0					g.chr9:140952524C>T	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.4130C>T	chr9.hg19:g.140952524C>T	ENSP00000360423:p.Ala1377Val	0					CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V	p.A1377V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	0	0	0	1.937903	Q00975	CAC1B_HUMAN		28	4275	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	1	1	hg19	c.4130C>T	CCDS59522.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199806	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.46819	1.47	0.80722	D	1	B;P;P	0.41498	0.255;0.752;0.752	B;P;P	0.51742	0.228;0.678;0.678	D	0.95465	0.8546	10	0.23302	T	0.38	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	1377;1378;1377	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1377;1377;573;1377;1378;1378	ENSP00000360423:A1377V;ENSP00000277551:A1377V;ENSP00000277549:A573V;ENSP00000360414:A1377V;ENSP00000360408:A1378V;ENSP00000360406:A1378V	ENSP00000277549:A573V	A	+	2	0	0	CACNA1B	140072345	140072345	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.708000	0.84633	2.682000	0.91365	0.555000	0.69702	GCC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.083354	1	0.170000	NM_000718			57	57		241	236	1		1			0	0	58	0		1	0	0	0	0	0	0	57	241
CACNA1B	774	broad.mit.edu	37	9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T	rs377467706		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000371372.1	+	43	5948	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					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)			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)	TGGCATCAAAGAGTCTGTCTC	0.572																																						ENST00000371372.1	1.000000	0.680000	1	9.500000e-01	0.990000	0.969604	0.990000	1.000000																										0				80						c.(5803-5805)Gag>Tag		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						25.0	28.0	27.0					9																	141012423		1911	4131	6042	SO:0001587	stop_gained	774	0	0					g.chr9:141012423G>T	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.5803G>T	chr9.hg19:g.141012423G>T	ENSP00000360423:p.Glu1935*	0					CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*	p.E1935*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	0	0	0	1.937903	Q00975	CAC1B_HUMAN		43	5948	+	all_cancers(76;0.166)		B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	0	1	hg19	c.5803G>T	CCDS59522.1	1	.	.	.	.	.	.	.	.	.	.	G	56	26.658571	0.99969	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	3.94	3.94	0.45596	3.94	3.94	0.45596	.	25.295300	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9521	0.64123	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1935;1129;1933;1934;1936	.	ENSP00000277549:E1129X	E	+	1	0	0	CACNA1B	140132244	140132244	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.036000	0.60181	0.561000	0.74099	GAG	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1		2	2	2	0		0	0	14		14	14	1	2.060000	-16.289560	1	0.170000	NM_000718			9	8		62	61	1		1			0	0	14	0		9.945574e-01	0	0	0	0	0	0	9	62
CACNA1B	774	broad.mit.edu	37	9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000371372.1	+	47	6657	c.6512G>T	c.(6511-6513)aGc>aTc	p.S2171I	CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2171					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)			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)	GTGAATGGGAGCCCCTTGCTG	0.557																																						ENST00000371372.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				80						c.(6511-6513)aGc>aTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						39.0	43.0	41.0					9																	141015943		1921	4114	6035	SO:0001583	missense	774	0	0					g.chr9:141015943G>T	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.6512G>T	chr9.hg19:g.141015943G>T	ENSP00000360423:p.Ser2171Ile	0					CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I	p.S2171I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	0	0	0	1.937903	Q00975	CAC1B_HUMAN		47	6657	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	1	1	hg19	c.6512G>T	CCDS59522.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936637	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98567	-4.71;-5.0;-4.72;-4.71;-4.69	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.124902	0.52532	D	0.000068	D	0.98482	0.9494	M	0.79258	2.445	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54629	0.757;0.757	D	0.99640	1.0988	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2170;2169	B1AQK7;B1AQK6	.;.	I	2171;1365;2169;2170;2172	ENSP00000360423:S2171I;ENSP00000277549:S1365I;ENSP00000360414:S2169I;ENSP00000360408:S2170I;ENSP00000360406:S2172I	ENSP00000277549:S1365I	S	+	2	0	0	CACNA1B	140135764	140135764	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.927000	0.92846	2.319000	0.78375	0.561000	0.74099	AGC	1.438003e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_000718			54	51		228	217	1		1	0		0	0	29	0		1	0	0	1	0	0	0	54	228
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				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)			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)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000453981.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				65						c.(2080-2082)Cca>Tca		dedicator of cytokinesis 8							123.0	111.0	115.0					9																	372257		2203	4300	6503	SO:0001583	missense	81704	0	0					g.chr9:372257C>T	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.2080C>T	chr9.hg19:g.372257C>T	ENSP00000408464:p.Pro694Ser	0					DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S	p.P694S			0	0	0	1.928190	Q8NF50	DOCK8_HUMAN		18	2192	+		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)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	1	1	hg19	c.2080C>T	CCDS6440.2	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	0	DOCK8	362257	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-2.571543	1	0.170000	XM_036307			60	60		314	310	1		1	0		0	0	74	0		1	9.971423e-01	0	0	0	49	0	60	314
DOCK8	81704	broad.mit.edu	37	9	376229	376229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000453981.1	+	19	2241	c.2129C>A	c.(2128-2130)cCt>cAt	p.P710H	DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	710	DHR-1.				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)			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)		TTACAGAATCCTCCCATTAAG	0.373																																						ENST00000453981.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(2128-2130)cCt>cAt		dedicator of cytokinesis 8							125.0	124.0	124.0					9																	376229		2203	4300	6503	SO:0001583	missense	81704	0	0					g.chr9:376229C>A	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.2129C>A	chr9.hg19:g.376229C>A	ENSP00000408464:p.Pro710His	0					DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H	p.P710H			0	0	0	1.928190	Q8NF50	DOCK8_HUMAN		19	2241	+		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)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	1	1	hg19	c.2129C>A	CCDS6440.2	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329458	0.81690	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.44881	2.23;2.23;2.25;0.91;2.04	5.66	4.76	0.60689	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.99;1.0	D;D;D;D	0.91635	0.961;0.999;0.972;0.998	T	0.75657	-0.3242	10	0.87932	D	0	.	14.5025	0.67732	0.0:0.9297:0.0:0.0703	.	12;642;177;710	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	H	710;710;642;642;12;177	ENSP00000408464:P710H;ENSP00000394888:P642H;ENSP00000419438:P642H;ENSP00000371768:P12H;ENSP00000371766:P177H	ENSP00000287364:P710H	P	+	2	0	0	DOCK8	366229	366229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	1.388000	0.46506	0.650000	0.86243	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-3.299441	1	0.170000	XM_036307			104	101		442	439	1		1	1		0	0	104	0		1	9.997726e-01	0	2	0	52	0	104	442
DOCK8	81704	broad.mit.edu	37	9	382633	382633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:382633C>T	ENST00000453981.1	+	22	2838	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000432829.2_Missense_Mutation_p.A841V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					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)			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)		CCAGACCTCGCGGGGACACAC	0.542																																						ENST00000453981.1	0.390000	0.090000	3.000000e-01	1.400000e-01	0.210000	0.225486	0.210000	0.200000																										0				65						c.(2725-2727)gCg>gTg		dedicator of cytokinesis 8							64.0	56.0	59.0					9																	382633		2203	4300	6503	SO:0001583	missense	81704	1	121412	32				g.chr9:382633C>T	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.2726C>T	chr9.hg19:g.382633C>T	ENSP00000408464:p.Ala909Val	0					DOCK8_ENST00000432829.2_Missense_Mutation_p.A841V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V	p.A909V			0	0	0	1.928190	Q8NF50	DOCK8_HUMAN		22	2838	+		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)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	0	1	hg19	c.2726C>T	CCDS6440.2	0	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849439	0.32699	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.64	2.51	0.30379	5.64	2.51	0.30379	.	0.517985	0.20394	N	0.093194	T	0.24314	0.0589	L	0.47190	1.495	0.09310	N	1	B;B;B;B	0.16603	0.018;0.0;0.001;0.0	B;B;B;B	0.11329	0.006;0.001;0.002;0.001	T	0.22173	-1.0224	10	0.20519	T	0.43	.	10.0352	0.42125	0.0:0.7579:0.0:0.2421	.	211;841;376;909	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	909;909;841;841;211;376	ENSP00000408464:A909V;ENSP00000394888:A841V;ENSP00000419438:A841V;ENSP00000371768:A211V;ENSP00000371766:A376V	ENSP00000287364:A909V	A	+	2	0	0	DOCK8	372633	372633	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	1.427000	0.34881	0.208000	0.20626	-0.126000	0.14955	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	0		2	2	2	0		0	0	81		81	81	1	2.060000	-6.824755	1	0.170000	XM_036307			7	7		388	382	0		1	0		0	0	81	0		9.797391e-01	2.739369e-01	0	0	0	51	0	7	388
DOCK8	81704	broad.mit.edu	37	9	421012	421012	+	Missense_Mutation	SNP	C	C	T	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000453981.1	+	32	4199	c.4087C>T	c.(4087-4089)Cgg>Tgg	p.R1363W	DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1363					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)			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)		TGTCAAGGCCCGGCTGGAAGA	0.582																																						ENST00000453981.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999914	0.990000	1.000000																										0				65						c.(4087-4089)Cgg>Tgg		dedicator of cytokinesis 8		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	86.0	86.0	86.0		3787,3883,4087	-3.0	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1263/2000,1295/2032,1363/2100	421012	1,13005	2203	4300	6503	SO:0001583	missense	81704	21	121412	46				g.chr9:421012C>T	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.4087C>T	chr9.hg19:g.421012C>T	ENSP00000408464:p.Arg1363Trp	0					DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W	p.R1363W			0	0	0	1.928190	Q8NF50	DOCK8_HUMAN		32	4199	+		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)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	1	1	hg19	c.4087C>T	CCDS6440.2	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055129	0.55325	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.76	-2.97	0.05530	5.76	-2.97	0.05530	.	0.210418	0.47852	D	0.000205	T	0.05090	0.0136	M	0.74881	2.28	0.34970	D	0.753095	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.15870	0.008;0.014;0.008	T	0.40664	-0.9551	10	0.87932	D	0	.	22.6959	0.99975	0.2404:0.7596:0.0:0.0	.	1263;830;1363	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	W	1363;1331;1295;1263;830	ENSP00000408464:R1363W;ENSP00000394888:R1295W;ENSP00000419438:R1263W;ENSP00000371766:R830W	ENSP00000287364:R1331W	R	+	1	2	2	DOCK8	411012	411012	0.989000	0.36119	0.926000	0.36857	0.860000	0.49131	0.889000	0.28282	-0.423000	0.07394	-0.262000	0.10625	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-2.402345	0	0.170000	XM_036307			63	62		432	421	1		1	0		0	0	111	0		1	9.902267e-01	0	0	0	51	0	63	432
KANK1	23189	broad.mit.edu	37	9	712587	712587	+	Missense_Mutation	SNP	G	G	T	rs539839243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	607					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)			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)		GCAACACAGAGGAGTCTGTGA	0.507																																						ENST00000382303.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				43						c.(1819-1821)gaG>gaT		KN motif and ankyrin repeat domains 1							183.0	158.0	166.0					9																	712587		2203	4300	6503	SO:0001583	missense	23189	0	0					g.chr9:712587G>T	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.1821G>T	chr9.hg19:g.712587G>T	ENSP00000371740:p.Glu607Asp	0					KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D|KANK1_ENST00000489369.1_3'UTR	p.E607D	NM_001256876.1	NP_001243805.1	0	0	0	1.928190	Q14678	KANK1_HUMAN		7	2473	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	1	1	hg19	c.1821G>T	CCDS34976.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706310	0.30232	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	1.25	0.21368	5.96	1.25	0.21368	.	0.219708	0.31909	N	0.006867	T	0.71668	0.3367	L	0.43152	1.355	0.80722	D	1	P;B	0.48911	0.917;0.074	P;B	0.49140	0.601;0.055	T	0.68481	-0.5397	10	0.46703	T	0.11	-0.6817	6.9281	0.24426	0.2122:0.2542:0.5336:0.0	.	607;607	Q5W0W1;Q14678	.;KANK1_HUMAN	D	607;607;607;449	ENSP00000371740:E607D;ENSP00000371734:E607D;ENSP00000371730:E449D	ENSP00000346479:E607D	E	+	3	2	2	KANK1	702587	702587	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.463000	0.35277	0.815000	0.34398	0.650000	0.86243	GAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	0	0	1		17	5	2	1		1	1	70		70	70	1	2.060000	-3.090810	1	0.170000	NM_015158			57	55		297	289	1		1	1		1	0	70	0		9.999997e-01	9.131065e-01	0	11	0	39	0	57	297
DMRT1	1761	broad.mit.edu	37	9	847106	847106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000382276.3	+	2	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCACCTCTCAGCCACCGCCGG	0.627																																						ENST00000382276.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994131	0.990000	1.000000																										0				13						c.(499-501)caG>caT		doublesex and mab-3 related transcription factor 1							49.0	43.0	45.0					9																	847106		2203	4300	6503	SO:0001583	missense	1761	0	0					g.chr9:847106G>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.501G>T	chr9.hg19:g.847106G>T	ENSP00000371711:p.Gln167His	0					DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	p.Q167H	NM_021951.2	NP_068770.2	0	0	0	1.928190	Q9Y5R6	DMRT1_HUMAN		2	650	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	1	1	hg19	c.501G>T	CCDS6442.1	1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908389	0.33721	.	.	ENSG00000137090	ENST00000382276	T	0.18810	2.19	4.8	3.9	0.45041	4.8	3.9	0.45041	.	1.441650	0.04171	N	0.324722	T	0.33760	0.0874	L	0.45285	1.41	0.30040	N	0.812651	D;B	0.61697	0.99;0.006	P;B	0.59288	0.855;0.016	T	0.05599	-1.0875	10	0.42905	T	0.14	.	5.3827	0.16199	0.1814:0.1671:0.6516:0.0	.	167;167	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	H	167	ENSP00000371711:Q167H	ENSP00000371711:Q167H	Q	+	3	2	2	DMRT1	837106	837106	0.999000	0.42202	0.786000	0.31890	0.451000	0.32288	0.949000	0.29109	1.025000	0.39708	0.655000	0.94253	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	1	0	1		2	2	2	0		0	0	53		53	51	1	2.060000	-20.000000	1	0.170000	NM_021951			29	28		220	213	1		1	0		0	0	53	0		1	0	0	1	0	0	0	29	220
DMRT3	58524	broad.mit.edu	37	9	977109	977109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	ENST00000190165.2	+	1	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	36					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)			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)		GCAACCATGGCGTCCTGTCCT	0.682																																						ENST00000190165.2	1.000000	0.470000	1	6.800000e-01	0.950000	0.875087	0.950000	1.000000																										0				26						c.(106-108)ggC>ggT		doublesex and mab-3 related transcription factor 3							20.0	17.0	18.0					9																	977109		2199	4299	6498	SO:0001819	synonymous_variant	58524	0	0					g.chr9:977109C>T	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.108C>T	chr9.hg19:g.977109C>T		0						p.G36G	NM_021240.2	NP_067063.1	0	0	0	1.928190	Q9NQL9	DMRT3_HUMAN		1	146	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	0	1	hg19	c.108C>T	CCDS6443.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	0	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-13.468980	1	0.170000	NM_021240			8	8		85	83	0		1			0	0	21	0		9.895245e-01	0	0	0	0	0	0	8	85
SMARCA2	6595	broad.mit.edu	37	9	2073274	2073274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000349721.2_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000382194.1_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	603					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)			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)		CAGAAACCGGCAAGGTTCTGT	0.502																																						ENST00000382203.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999749	0.990000	1.000000																										0				56						c.(1807-1809)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							75.0	75.0	75.0					9																	2073274		2203	4300	6503	SO:0001819	synonymous_variant	6595	0	0					g.chr9:2073274C>T	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.1809C>T	chr9.hg19:g.2073274C>T		0					SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G	p.G603G			0	0	0	1.928190	P51531	SMCA2_HUMAN		11	2018	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	1	1	hg19	c.1809C>T	CCDS34977.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_003070			34	33		199	198	1		1	1		0	0	68	0		1	9.999996e-01	0	16	0	125	0	34	199
SMARCA2	6595	broad.mit.edu	37	9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1064	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		AAATTGAGAGCGACTAATCAC	0.443																																						ENST00000382203.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(3190-3192)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							229.0	210.0	217.0					9																	2104068		2203	4300	6503	SO:0001583	missense	6595	6	121412	40				g.chr9:2104068C>T	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.3191C>T	chr9.hg19:g.2104068C>T	ENSP00000371638:p.Ala1064Val	0					SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V	p.A1064V			0	0	0	1.928190	P51531	SMCA2_HUMAN		23	3400	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	1	1	hg19	c.3191C>T	CCDS34977.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.440013	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.69	5.69	0.88448	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.84511	2.7	0.80722	D	1	B;D;D	0.76494	0.347;0.999;0.999	B;D;D	0.78314	0.048;0.991;0.98	D	0.90030	0.4134	10	0.56958	D	0.05	-21.8405	19.8145	0.96560	0.0:1.0:0.0:0.0	.	665;1064;1064	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	1064	ENSP00000265773:A1064V;ENSP00000349788:A1064V;ENSP00000371638:A1064V;ENSP00000371629:A1064V	ENSP00000265773:A1064V	A	+	2	0	0	SMARCA2	2094068	2094068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.683000	0.91414	0.563000	0.77884	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1		2	2	2	0		0	0	136		136	136	1	2.060000	-20.000000	1	0.170000	NM_003070			121	120		582	570	1		1	1		0	0	136	0		1	1	0	18	0	149	0	121	582
SMARCA2	6595	broad.mit.edu	37	9	2119478	2119478	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000349721.2_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000382194.1_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1235					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)			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)		AAGTACCGGACGATGAGACTC	0.408																																						ENST00000382203.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999713	0.990000	1.000000																										0				56						c.(3703-3705)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							108.0	100.0	103.0					9																	2119478		2203	4300	6503	SO:0001819	synonymous_variant	6595	3	121408	35				g.chr9:2119478C>T	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.3705C>T	chr9.hg19:g.2119478C>T		0					SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D	p.D1235D			0	0	0	1.928190	P51531	SMCA2_HUMAN		26	3914	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	1	1	hg19	c.3705C>T	CCDS34977.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_003070			37	36		228	226	0		1	1		0	0	58	0		1	9.999999e-01	0	23	0	133	0	37	228
VLDLR	7436	broad.mit.edu	37	9	2643913	2643913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.3	+	7	1376	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	340	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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)		TATGTAACCAGGAGCAGGACT	0.443																																						ENST00000382100.3	0.460000	0.150000	3.800000e-01	2.100000e-01	0.280000	0.299565	0.280000	0.280000																										0				24						c.(1018-1020)caG>caT		very low density lipoprotein receptor							145.0	150.0	148.0					9																	2643913		2203	4300	6503	SO:0001583	missense	7436	0	0					g.chr9:2643913G>T		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.1020G>T	chr9.hg19:g.2643913G>T	ENSP00000371532:p.Gln340His	0					RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	p.Q340H	NM_003383.3	NP_003374.3	0	0	0	1.928190	P98155	VLDLR_HUMAN		7	1376	+			B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	0	1	hg19	c.1020G>T	CCDS6446.1	0	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247549	0.39697	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95554	-3.74;-3.74	5.24	3.21	0.36854	5.24	3.21	0.36854	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.131016	0.35320	N	0.003286	D	0.85729	0.5764	N	0.02842	-0.48	0.33844	D	0.631831	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.82232	-0.0559	10	0.51188	T	0.08	.	7.9089	0.29778	0.1504:0.0:0.7225:0.1271	.	340;340;340	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	340;340;219	ENSP00000371532:Q340H;ENSP00000371531:Q340H	ENSP00000371524:Q219H	Q	+	3	2	2	VLDLR	2633913	2633913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.264000	0.51553	0.661000	0.30985	0.655000	0.94253	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	0	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-3.443262	1	0.170000	NM_003383			12	11		473	462	0		1	0		0	0	104	0		9.989936e-01	3.442204e-01	0	1	0	45	0	12	473
KCNV2	169522	broad.mit.edu	37	9	2717904	2717904	+	Silent	SNP	C	C	T	rs373688228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	55					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)			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)		ACTACTACATCGAGGAAGACG	0.642																																						ENST00000382082.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(163-165)atC>atT		potassium channel, subfamily V, member 2							146.0	118.0	127.0					9																	2717904		2203	4300	6503	SO:0001819	synonymous_variant	169522	0	0					g.chr9:2717904C>T	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.165C>T	chr9.hg19:g.2717904C>T		0						p.I55I	NM_133497.3	NP_598004.1	0	0	0	1.928190	Q8TDN2	KCNV2_HUMAN		1	403	+			Q5T6X0	Silent	SNP	ENST00000382082.3	1	1	hg19	c.165C>T	CCDS6447.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1		2	2	2	0		0	0	89		89	89	1	2.060000	-20.000000	1	0.170000	NM_133497			81	81		437	430	0		1			0	0	89	0		1	0	0	0	0	0	0	81	437
KCNV2	169522	broad.mit.edu	37	9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	140					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)			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)		AAGCCTGTGCGACGACTACGA	0.637																																						ENST00000382082.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999483	0.990000	1.000000																										0				35						c.(418-420)Gac>Aac		potassium channel, subfamily V, member 2							18.0	18.0	18.0					9																	2718157		2200	4294	6494	SO:0001583	missense	169522	4	121366	31				g.chr9:2718157G>A	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.418G>A	chr9.hg19:g.2718157G>A	ENSP00000371514:p.Asp140Asn	0						p.D140N	NM_133497.3	NP_598004.1	0	0	0	1.928190	Q8TDN2	KCNV2_HUMAN		1	656	+			Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	0	1	hg19	c.418G>A	CCDS6447.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875721	0.91664	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77620	-1.11	5.07	5.07	0.68467	5.07	5.07	0.68467	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	18.4533	0.90711	0.0:0.0:1.0:0.0	.	140	Q8TDN2	KCNV2_HUMAN	N	140	ENSP00000371514:D140N	ENSP00000371514:D140N	D	+	1	0	0	KCNV2	2708157	2708157	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	9.855000	0.99526	2.352000	0.79861	0.462000	0.41574	GAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1		2	2	2	0		0	0	12		12	11	1	2.060000	-20.000000	1	0.170000	NM_133497			19	18		80	79	1		1			0	0	12	0		9.999945e-01	0	0	0	0	0	0	19	80
KCNV2	169522	broad.mit.edu	37	9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452					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.A452T(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)		GTGGTGGGCCGCGGTGAGTAC	0.602																																						ENST00000382082.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A452T(1)	endometrium(1)	35						c.(1354-1356)Gcg>Acg		potassium channel, subfamily V, member 2							47.0	46.0	46.0					9																	2719093		2203	4300	6503	SO:0001583	missense	169522	1	121410	27				g.chr9:2719093G>A	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.1354G>A	chr9.hg19:g.2719093G>A	ENSP00000371514:p.Ala452Thr	0						p.A452T	NM_133497.3	NP_598004.1	0	0	0	1.928190	Q8TDN2	KCNV2_HUMAN		1	1592	+			Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	1	1	hg19	c.1354G>A	CCDS6447.1	1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614062	0.28712	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.44	4.54	0.55810	5.44	4.54	0.55810	Ion transport (1);	0.051120	0.85682	D	0.000000	D	0.96466	0.8847	N	0.20401	0.57	0.58432	D	0.999999	D	0.65815	0.995	P	0.55713	0.782	D	0.94666	0.7852	10	0.15499	T	0.54	.	14.1427	0.65329	0.0716:0.0:0.9284:0.0	.	452	Q8TDN2	KCNV2_HUMAN	T	452	ENSP00000371514:A452T	ENSP00000371514:A452T	A	+	1	0	0	KCNV2	2709093	2709093	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	6.784000	0.75084	1.299000	0.44798	0.650000	0.86243	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1		2	2	2	0		0	0	44		44	42	1	2.060000	-20.000000	1	0.170000	NM_133497			47	46		197	194	1		1			0	0	44	0		1	0	0	0	0	0	0	47	197
KIAA0020	9933	broad.mit.edu	37	9	2811514	2811514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	494	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483																																						ENST00000397885.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1480-1482)ctG>ctA		KIAA0020							157.0	143.0	148.0					9																	2811514		2203	4300	6503	SO:0001819	synonymous_variant	9933	0	0					g.chr9:2811514C>T	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.1482G>A	chr9.hg19:g.2811514C>T		0						p.L494L	NM_014878.4	NP_055693.4	0	0	0	1.928190	Q15397	K0020_HUMAN		15	1688	-			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	1	1	hg19	c.1482G>A	CCDS6448.2	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	1	0	1		2	2	2	0		0	0	134		134	134	1	2.060000	-20.000000	1	0.170000	NM_014878			121	119		500	493	1		1	1		0	0	134	0		1	9.999999e-01	0	29	0	69	0	121	500
GLIS3	169792	broad.mit.edu	37	9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	717					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)			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)		GTGGAAAACATCAAAACTGGC	0.537																																						ENST00000324333.10	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				26						c.(2149-2151)gAt>gGt		GLIS family zinc finger 3							108.0	93.0	98.0					9																	3829351		2203	4300	6503	SO:0001583	missense	169792	1	121410	32				g.chr9:3829351T>C	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.2150A>G	chr9.hg19:g.3829351T>C	ENSP00000325494:p.Asp717Gly	0					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	p.D717G	NM_152629.3	NP_689842.3	0	0	0	1.928190	Q8NEA6	GLIS3_HUMAN		9	2343	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	1	1	hg19	c.2150A>G	CCDS6451.1	1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.878591	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11821	2.77;2.74	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000082	T	0.08537	0.0212	N	0.19112	0.55	0.37435	D	0.914172	B;B;B	0.32693	0.38;0.38;0.051	B;B;B	0.30316	0.114;0.114;0.034	T	0.38693	-0.9649	10	0.15952	T	0.53	.	11.4116	0.49929	0.0:0.0717:0.0:0.9283	.	312;872;717	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	G	717;872	ENSP00000325494:D717G;ENSP00000371398:D872G	ENSP00000325494:D717G	D	-	2	0	0	GLIS3	3819351	3819351	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	4.122000	0.57910	2.270000	0.75569	0.460000	0.39030	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-20.000000	1	0.170000	NM_152629			41	42		185	183	1		1	1		0	0	50	0		1	9.433278e-01	0	3	0	21	0	41	185
GLIS3	169792	broad.mit.edu	37	9	4118509	4118509	+	Silent	SNP	C	C	T	rs201431173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	168					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)			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)		AGGACGTGGGCGACGTGCGGA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16377	0.001		0.0	False		,,,				2504	0.0					ENST00000324333.10	1.000000	0.540000	9.300000e-01	6.500000e-01	0.780000	0.795957	0.780000	1.000000																										0				26						c.(502-504)tcG>tcA		GLIS family zinc finger 3							72.0	62.0	65.0					9																	4118509		2203	4300	6503	SO:0001819	synonymous_variant	169792	2	121412	37				g.chr9:4118509C>T	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.504G>A	chr9.hg19:g.4118509C>T		0					GLIS3_ENST00000381971.3_Silent_p.S323S	p.S168S	NM_152629.3	NP_689842.3	0	0	0	1.928190	Q8NEA6	GLIS3_HUMAN		3	697	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	1	1	hg19	c.504G>A	CCDS6451.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-3.142702	1	0.170000	NM_152629			30	29		401	400	0		1	0		0	0	87	0		1	2.653443e-01	0	1	0	13	0	30	401
GLIS3	169792	broad.mit.edu	37	9	4286138	4286138	+	Silent	SNP	C	C	T	rs371790247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	328	Ser-rich.				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)			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)		CCTGGAATCGCGGCTTCCCAT	0.557																																						ENST00000381971.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(286-288)ccG>ccA		GLIS family zinc finger 3		C		0,3996		0,0,1998	83.0	85.0	84.0		288	-2.1	1.0	9		84	1,8325		0,1,4162	no	coding-synonymous	GLIS3	NM_001042413.1		0,1,6160	TT,TC,CC		0.012,0.0,0.0081		96/931	4286138	1,12321	1998	4163	6161	SO:0001819	synonymous_variant	169792	1	120944	34				g.chr9:4286138C>T	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	ENST00000381971.3:c.288G>A	chr9.hg19:g.4286138C>T		0						p.P96P	NM_001042413.1	NP_001035878.1	0	0	0	1.928190	Q8NEA6	GLIS3_HUMAN		2	881	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	B1AL19|Q1PHK5	Silent	SNP	ENST00000381971.3	1	1	hg19	c.288G>A	CCDS43784.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-20.000000	1	0.170000	NM_152629			80	79		471	465	1		1	0		0	0	95	0		1	9.263517e-01	0	1	0	27	0	80	471
SLC1A1	6505	broad.mit.edu	37	9	4576049	4576049	+	Silent	SNP	C	C	T	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	308					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ATTTCATAGTCGTACGAAAGA	0.443																																						ENST00000262352.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(922-924)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	C		0,4406		0,0,2203	99.0	94.0	96.0		924	-10.8	0.0	9	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC1A1	NM_004170.5		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		308/525	4576049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6505	3	121412	37				g.chr9:4576049C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.924C>T	chr9.hg19:g.4576049C>T		0						p.V308V	NM_004170.5	NP_004161.4	0	0	0	1.928190	P43005	EAA3_HUMAN		9	1160	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	1	1	hg19	c.924C>T	CCDS6452.1	1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540993	0.13250	0.0	2.33E-4	ENSG00000106688	ENST00000422398	.	.	.	5.39	-10.8	0.00216	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	5.2653	0.15595	0.1122:0.1072:0.1954:0.5853	.	.	.	.	C	71	.	.	R	+	1	0	0	SLC1A1	4566049	4566049	0.000000	0.05858	0.010000	0.14722	0.866000	0.49608	-5.152000	0.00146	-2.973000	0.00285	-0.768000	0.03414	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-3.216487	1	0.170000				61	58		283	279	1		1	1		0	0	53	0		1	1	0	165	0	130	0	61	283
SLC1A1	6505	broad.mit.edu	37	9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	388					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAATGACCTGGACTTGGGCAT	0.488																																						ENST00000262352.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1162-1164)Gac>Tac		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)						203.0	180.0	188.0					9																	4576732		2203	4300	6503	SO:0001583	missense	6505	0	0					g.chr9:4576732G>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1162G>T	chr9.hg19:g.4576732G>T	ENSP00000262352:p.Asp388Tyr	0						p.D388Y	NM_004170.5	NP_004161.4	0	0	0	1.928190	P43005	EAA3_HUMAN		10	1398	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	1	1	hg19	c.1162G>T	CCDS6452.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614725|1.614725	0.28712|0.28712	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.60920|.	0.15|.	5.54|5.54	4.64|4.64	0.57946|0.57946	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.495607|.	0.23930|.	N|.	0.043142|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.30646|.	0.118|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.56958|.	D|.	0.05|.	.|.	10.1483|10.1483	0.42778|0.42778	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	388|.	P43005|.	EAA3_HUMAN|.	Y|V	388|150	ENSP00000262352:D388Y|.	ENSP00000262352:D388Y|.	D|G	+|+	1|2	0|0	0|0	SLC1A1|SLC1A1	4566732|4566732	4566732|4566732	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.462000|0.462000	0.32619|0.32619	0.682000|0.682000	0.25335|0.25335	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GAC|GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	0		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000				107	107		497	489	1		1	1		0	0	133	0		1	1	0	153	0	189	0	107	497
SLC1A1	6505	broad.mit.edu	37	9	4576765	4576765	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1						D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CACCATCAGGTGGGGCATGGT	0.483																																						ENST00000262352.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.e10+2		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)						154.0	137.0	143.0					9																	4576765		2203	4300	6503	SO:0001630	splice_region_variant	6505	0	0					g.chr9:4576765T>C		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1193+2T>C	chr9.hg19:g.4576765T>C		0							NM_004170.5	NP_004161.4	0	0	0	1.928190	P43005	EAA3_HUMAN		10	1429	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	O75587|Q5VZ24|Q8N199|Q9UEW2	Splice_Site	SNP	ENST00000262352.3	1	1	hg19		CCDS6452.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349111	0.82132	.	.	ENSG00000106688	ENST00000262352;ENST00000422398	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SLC1A1	4566765	4566765	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.962000	0.87912	2.097000	0.63578	0.533000	0.62120	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	0		2	2	2	0		0	0	106		106	105	1	2.060000	-20.000000	1	0.170000		Intron		71	70		380	377	1		1	1		0	0	106	0		1	9.999991e-01	0	107	0	2	0	71	380
SLC1A1	6505	broad.mit.edu	37	9	4583161	4583161	+	Silent	SNP	C	C	T	rs371758046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	439					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TCATTGCTGTCGACTGGCTCC	0.612																																						ENST00000262352.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1315-1317)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	C		1,4405	2.1+/-5.4	0,1,2202	139.0	121.0	127.0		1317	-10.3	0.1	9		127	0,8600		0,0,4300	no	coding-synonymous	SLC1A1	NM_004170.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		439/525	4583161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6505	6	121412	40				g.chr9:4583161C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1317C>T	chr9.hg19:g.4583161C>T		0						p.V439V	NM_004170.5	NP_004161.4	0	0	0	1.928190	P43005	EAA3_HUMAN		11	1553	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	1	1	hg19	c.1317C>T	CCDS6452.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	0	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-3.143599	1	0.170000				98	98		534	525	1		1	1		0	0	143	0		1	1	0	115	0	39	0	98	534
CDC37L1	55664	broad.mit.edu	37	9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	49	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373																																						ENST00000381854.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				4						c.(145-147)gGa>gAa		cell division cycle 37-like 1							86.0	83.0	84.0					9																	4684890		2203	4300	6503	SO:0001583	missense	55664	0	0					g.chr9:4684890G>A	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.146G>A	chr9.hg19:g.4684890G>A	ENSP00000371278:p.Gly49Glu	0					CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	p.G49E	NM_017913.2	NP_060383.2	0	0	0	1.928190	Q7L3B6	CD37L_HUMAN		2	348	+	all_hematologic(13;0.137)	Breast(48;0.238)	B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	1	1	hg19	c.146G>A	CCDS6454.1	1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574054	0.28092	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.41065	1.01;1.02	5.86	3.05	0.35203	5.86	3.05	0.35203	.	0.544665	0.20087	N	0.099523	T	0.22704	0.0548	N	0.14661	0.345	0.34232	D	0.676602	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	10	0.12103	T	0.63	-2.6289	10.5014	0.44808	0.2599:0.0:0.7401:0.0	.	49	Q7L3B6	CD37L_HUMAN	E	49	ENSP00000371282:G49E;ENSP00000371278:G49E	ENSP00000371278:G49E	G	+	2	0	0	CDC37L1	4674890	4674890	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.529000	0.45632	0.825000	0.34637	0.563000	0.77884	GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_017913			37	37		179	174	1		1	1		0	0	33	0		1	9.998464e-01	0	10	0	58	0	37	179
AK3	50808	broad.mit.edu	37	9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	92					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TGGAAGTGTCCTTGGAAAACC	0.418																																						ENST00000381809.3	1.000000	0.710000	1	8.800000e-01	0.990000	0.959295	0.990000	1.000000																										0				5						c.(280-282)aGg>aTg		adenylate kinase 3	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)						51.0	46.0	48.0					9																	4719298		2203	4300	6503	SO:0001583	missense	50808	0	0					g.chr9:4719298C>A	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.281G>T	chr9.hg19:g.4719298C>A	ENSP00000371230:p.Arg94Met	0					AK3_ENST00000359883.2_Missense_Mutation_p.R24M|AK3_ENST00000447596.4_Missense_Mutation_p.R54M	p.R94M	NM_016282.3	NP_057366.2	0	0	0	1.928190	P27144	KAD4_HUMAN		3	511	-	all_hematologic(13;0.137)	Breast(48;0.238)	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	1	1	hg19	c.281G>T	CCDS6455.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351724	0.82132	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	4.75	0.60458	5.66	4.75	0.60458	.	0.043780	0.85682	D	0.000000	D	0.96648	0.8906	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98528	1.0626	10	0.87932	D	0	-19.0572	15.9198	0.79552	0.1364:0.8636:0.0:0.0	.	54;94	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	94;24;24;54	ENSP00000371230:R94M;ENSP00000352948:R24M;ENSP00000413933:R54M	ENSP00000352948:R24M	R	-	2	0	0	AK3	4709298	4709298	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.407000	0.80029	1.377000	0.46286	0.655000	0.94253	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	1	0	1		2	2	2	0		0	0	52		52	50	1	2.060000	-3.142710	1	0.170000	NM_016282			22	22		205	200	0		1	1		0	0	52	0		9.999988e-01	9.999996e-01	0	53	0	192	0	22	205
JAK2	3717	broad.mit.edu	37	9	5069022	5069022	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			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)		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)	ACTTATACAGCGAGAAAATGT	0.328		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3	1.000000	0.890000	1	9.900000e-01	0.990000	0.993489	0.990000	1.000000		1		Dom	yes			Dom	yes		9	9p24	9p24	3717	T, Mis, O	Janus kinase 2				L	L	ETV6, PCM1, BCR		ALL, AML, MPD,  CML	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				32998						c.(1327-1329)Cga>Tga		Janus kinase 2	Ruxolitinib(DB08877)|Tofacitinib(DB08895)						52.0	58.0	56.0					9																	5069022		2203	4299	6502	SO:0001630	splice_region_variant	3717	0	0		Polycythemia Vera, Familial	Familial Cancer Database		g.chr9:5069022C>T		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.1327-1C>T	chr9.hg19:g.5069022C>T		0					JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	p.R443*	NM_004972.3	NP_004963.1	0	0	0	1.928190	O60674	JAK2_HUMAN		11	1821	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	O14636|O75297	Splice_Site	SNP	ENST00000381652.3	0	0	hg19	c.1327C>T	CCDS6457.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.190073	0.98699	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	2.04	0.26737	5.02	2.04	0.26737	.	0.488046	0.20689	N	0.087500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4355	14.0004	0.64431	0.3937:0.6063:0.0:0.0	.	.	.	.	X	443;443;294	.	.	R	+	1	2	2	JAK2	5059022	5059022	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	0.477000	0.22196	0.111000	0.17947	0.591000	0.81541	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	1	0	1		2	2	2	0		0	0	51		51	50	1	2.060000	-20.000000	1	0.170000		Nonsense_Mutation		28	28		213	211	1		1	0		0	0	51	0		1	9.532981e-01	0	0	0	41	0	28	213
JAK2	3717	broad.mit.edu	37	9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	602	Protein kinase 1. {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)		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)	AGTATGATGAGCAAGCTTTCT	0.353		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000		1		Dom	yes			Dom	yes		9	9p24	9p24	3717	T, Mis, O	Janus kinase 2				L	L	ETV6, PCM1, BCR		ALL, AML, MPD,  CML	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				32998						c.(1804-1806)aGc>aTc		Janus kinase 2	Ruxolitinib(DB08877)|Tofacitinib(DB08895)						111.0	124.0	119.0					9																	5073726		2203	4299	6502	SO:0001583	missense	3717	0	0		Polycythemia Vera, Familial	Familial Cancer Database		g.chr9:5073726G>T		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.1805G>T	chr9.hg19:g.5073726G>T	ENSP00000371067:p.Ser602Ile	0					JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	p.S602I	NM_004972.3	NP_004963.1	0	0	0	1.928190	O60674	JAK2_HUMAN		14	2299	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	1	1	hg19	c.1805G>T	CCDS6457.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350840	0.82132	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83419	-1.72;-1.72;-1.72	5.51	5.51	0.81932	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.038094	0.85682	D	0.000000	D	0.92453	0.7604	M	0.89163	3.01	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.93483	0.6829	10	0.87932	D	0	-13.7575	19.4075	0.94653	0.0:0.0:1.0:0.0	.	602	O60674	JAK2_HUMAN	I	602;602;453	ENSP00000440387:S602I;ENSP00000371067:S602I;ENSP00000443103:S453I	ENSP00000371067:S602I	S	+	2	0	0	JAK2	5063726	5063726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.583000	0.87209	0.591000	0.81541	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	1	0	1		2	2	2	0		0	0	110		110	109	1	2.060000	-20.000000	1	0.170000				94	93		645	634	1		1	1		0	0	110	0		1	9.896362e-01	0	14	0	35	0	94	645
INSL6	11172	broad.mit.edu	37	9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	123					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328																																						ENST00000381641.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(367-369)tCa>tTa		insulin-like 6							91.0	91.0	91.0					9																	5164187		2203	4298	6501	SO:0001583	missense	11172	5	121400	38				g.chr9:5164187G>A	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.368C>T	chr9.hg19:g.5164187G>A	ENSP00000371054:p.Ser123Leu	0					INSL6_ENST00000510407.1_5'UTR	p.S123L	NM_007179.2	NP_009110.2	0	0	0	1.928190	Q9Y581	INSL6_HUMAN		2	433	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	1	1	hg19	c.368C>T	CCDS6458.1	1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547171	0.13312	.	.	ENSG00000120210	ENST00000381641	T	0.48522	0.81	4.2	-0.793	0.10922	4.2	-0.793	0.10922	Insulin-like (3);	2.496800	0.01306	N	0.010478	T	0.23094	0.0558	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	0.3335	7.5577	0.27833	0.7562:0.0:0.2438:0.0	.	123	Q9Y581	INSL6_HUMAN	L	123	ENSP00000371054:S123L	ENSP00000371054:S123L	S	-	2	0	0	INSL6	5154187	5154187	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.126000	0.15769	-0.124000	0.11724	0.591000	0.81541	TCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_007179			76	74		340	334	0		1	0		0	0	94	0		1	0	0	1	0	0	0	76	340
RLN2	6019	broad.mit.edu	37	9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A	rs372740663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	168					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373																																						ENST00000381627.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(502-504)gCt>gTt		relaxin 2							109.0	105.0	107.0					9																	5300153		2203	4300	6503	SO:0001583	missense	6019	0	0					g.chr9:5300153G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.503C>T	chr9.hg19:g.5300153G>A	ENSP00000371040:p.Ala168Val	0					RLN2_ENST00000308420.3_3'UTR	p.A168V	NM_134441.2	NP_604390.1	0	0	0	1.928190	P04090	REL2_HUMAN		2	891	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	1	1	hg19	c.503C>T	CCDS6460.1	1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421148	0.11928	.	.	ENSG00000107014	ENST00000381627	D	0.84944	-1.92	3.24	-5.1	0.02911	3.24	-5.1	0.02911	Insulin-like (4);	2.252680	0.01724	N	0.028443	T	0.76212	0.3956	L	0.32530	0.975	0.09310	N	1	B	0.18968	0.032	B	0.20955	0.032	T	0.61426	-0.7065	10	0.51188	T	0.08	.	5.4884	0.16763	0.1364:0.2102:0.5552:0.0982	.	168	P04090	REL2_HUMAN	V	168	ENSP00000371040:A168V	ENSP00000371040:A168V	A	-	2	0	0	RLN2	5290153	5290153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.396000	0.01052	-1.078000	0.03117	-2.219000	0.00296	GCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_134441			86	86		297	293	1		1	0		0	0	83	0		1	5.151739e-02	0	1	0	1	0	86	297
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T	rs369350813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	290					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)				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)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																	ENST00000381577.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999552	0.990000	1.000000				Dom	yes			Dom	yes		9	9p24	9p24	29126	T	CD274 molecule				L	L	CIITA		PMBL, Hodgkin Lymphona, 		0				11						c.(868-870)aCg>aTg		CD274 molecule		C	MET/THR	0,4406		0,0,2203	98.0	85.0	89.0		869	3.3	1.0	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD274	NM_014143.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	290/291	5467858	1,13005	2203	4300	6503	SO:0001583	missense	29126	2	121408	33				g.chr9:5467858C>T	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.869C>T	chr9.hg19:g.5467858C>T	ENSP00000370989:p.Thr290Met	0					CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	p.T290M	NM_014143.3	NP_054862.1	0	0	0	1.928190	Q9NZQ7	PD1L1_HUMAN		7	955	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	1	1	hg19	c.869C>T	CCDS6464.1	1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918869	0.52546	0.0	1.16E-4	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.37584	1.19;5.04	4.21	3.27	0.37495	4.21	3.27	0.37495	.	.	.	.	.	T	0.48187	0.1486	L	0.44542	1.39	0.32055	N	0.596435	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.791	T	0.54977	-0.8212	9	0.87932	D	0	-29.1992	7.9256	0.29872	0.0:0.8728:0.0:0.1272	.	176;290	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	M	176;290	ENSP00000370985:T176M;ENSP00000370989:T290M	ENSP00000370985:T176M	T	+	2	0	0	CD274	5457858	5457858	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.939000	0.40213	1.010000	0.39314	0.491000	0.48974	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_014143			36	35		228	219	1		1	1		0	0	51	0		1	6.307156e-01	0	5	0	10	0	36	228
RIC1	57589	broad.mit.edu	37	9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														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)		GATCGTGACAGGTGGCTTAGC	0.284																																						ENST00000414202.2	1.000000	0.650000	1	7.700000e-01	0.910000	0.899761	0.910000	1.000000																										0				45						c.(1624-1626)Ggt>Tgt									84.0	86.0	85.0					9																	5754862		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr9:5754862G>T																												ENST00000414202.2:c.1624G>T	chr9.hg19:g.5754862G>T	ENSP00000416696:p.Gly542Cys	0					KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C	p.G542C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	0	0	0	1.928190				15	1815	+		Acute lymphoblastic leukemia(23;0.154)		Missense_Mutation	SNP	ENST00000414202.2	1	1	hg19	c.1624G>T	CCDS34982.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556094|4.556094	0.86231|0.86231	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.14|5.14	5.14|5.14	0.70334|0.70334	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83312|0.83312	0.5227|0.5227	M|M	0.86343|0.86343	2.81|2.81	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|.	D|D	0.85636|0.85636	0.1273|0.1273	10|5	0.56958|.	D|.	0.05|.	-16.3166|-16.3166	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;463;542;542|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	C|M	542;542;463;463;426|433	ENSP00000251879:G542C;ENSP00000416696:G542C;ENSP00000370943:G463C;ENSP00000402240:G463C|.	ENSP00000251879:G542C|.	G|R	+|+	1|2	0|0	0|0	KIAA1432|KIAA1432	5744862|5744862	5744862|5744862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	GGT|AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.284	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-2.774725	1	0.170000				34	33		384	381	0		1	0		0	0	63	0		1	8.863235e-01	0	1	0	44	0	34	384
RIC1	57589	broad.mit.edu	37	9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														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)		GGACTTACGACTGTTCTGTGT	0.488																																						ENST00000414202.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(4255-4257)gaC>gaA									75.0	63.0	67.0					9																	5774231		2203	4300	6503	SO:0001583	missense	0	0	0					g.chr9:5774231C>A																												ENST00000414202.2:c.4257C>A	chr9.hg19:g.5774231C>A	ENSP00000416696:p.Asp1419Glu	0					KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	p.D1419E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	0	0	0	1.928190				26	4448	+		Acute lymphoblastic leukemia(23;0.154)		Missense_Mutation	SNP	ENST00000414202.2	1	1	hg19	c.4257C>A	CCDS34982.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100027|3.100027	0.56183|0.56183	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	4.8|4.8	0.61643|0.61643	5.7|5.7	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50650|0.50650	0.1628|0.1628	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.58970|.	0.984;0.984|.	D;D|.	0.70016|.	0.967;0.967|.	T|T	0.45323|0.45323	-0.9269|-0.9269	9|5	0.72032|.	D|.	0.01|.	-18.8188|-18.8188	10.5742|10.5742	0.45217|0.45217	0.0:0.8536:0.0:0.1464|0.0:0.8536:0.0:0.1464	.|.	1303;1419|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	E|M	1419;1340;1303|1311	.|.	ENSP00000416696:D1419E|.	D|L	+|+	3|1	2|2	2|2	KIAA1432|KIAA1432	5764231|5764231	5764231|5764231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.787000|2.787000	0.47798|0.47798	1.413000|1.413000	0.46997|0.46997	0.462000|0.462000	0.41574|0.41574	GAC|CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	1		2	2	2	0		0	0	61		61	57	1	2.060000	-20.000000	1	0.170000				54	53		203	199	1		1	1		0	0	61	0		1	9.985136e-01	0	2	0	38	0	54	203
KIAA2026	158358	broad.mit.edu	37	9	5920791	5920791	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1735										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)		CTGATGTTAAACATTTAGGAG	0.423																																						ENST00000399933.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(5203-5205)tgT>tgC		KIAA2026							148.0	143.0	145.0					9																	5920791		1923	4129	6052	SO:0001819	synonymous_variant	158358	0	0					g.chr9:5920791A>G	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.5205T>C	chr9.hg19:g.5920791A>G		0					KIAA2026_ENST00000381461.2_Silent_p.C1705C	p.C1735C	NM_001017969.2	NP_001017969.2	0	0	0	1.928190	Q5HYC2	K2026_HUMAN		8	5204	-		Acute lymphoblastic leukemia(23;0.158)	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	1	1	hg19	c.5205T>C		1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	0	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_001017969			117	116		460	443	1		1	1		0	0	126	0		1	9.998057e-01	0	11	0	40	0	117	460
KIAA2026	158358	broad.mit.edu	37	9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	82										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)		ATGCGGTAGCCCTGCTGTAGC	0.662																																						ENST00000399933.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999706	0.990000	1.000000																										0				46						c.(244-246)Ggc>Tgc		KIAA2026							28.0	35.0	33.0					9																	6007544		2080	4209	6289	SO:0001583	missense	158358	0	0					g.chr9:6007544C>A	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.244G>T	chr9.hg19:g.6007544C>A	ENSP00000382815:p.Gly82Cys	0					KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C|MIR4665_ENST00000581132.1_RNA	p.G82C	NM_001017969.2	NP_001017969.2	0	0	0	1.928190	Q5HYC2	K2026_HUMAN		1	243	-		Acute lymphoblastic leukemia(23;0.158)	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	1	1	hg19	c.244G>T		1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749993	0.69533	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	4.24	4.24	0.50183	Bromodomain (1);	.	.	.	.	T	0.53029	0.1771	N	0.12746	0.255	0.41630	D	0.989012	D	0.89917	1.0	D	0.72075	0.976	T	0.54410	-0.8298	8	0.27785	T	0.31	.	15.1706	0.72869	0.0:1.0:0.0:0.0	.	82	Q5HYC2	K2026_HUMAN	C	82	.	ENSP00000370870:G82C	G	-	1	0	0	KIAA2026	5997544	5997544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.081000	0.62600	0.491000	0.48974	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	1	0	1		2	2	2	0		0	0	31		31	30	1	2.060000	-20.000000	1	0.170000	NM_001017969			29	29		158	156	0		1	0		0	0	31	0		1	4.281305e-01	0	1	0	8	0	29	158
RANBP6	26953	broad.mit.edu	37	9	6014119	6014119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014119G>T	ENST00000259569.5	-	1	1499	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	RANBP6_ENST00000485372.1_5'UTR	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	497					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		ACGGAATGTAGATTTTTCACC	0.383																																						ENST00000259569.5	0.770000	0.170000	5.900000e-01	2.700000e-01	0.410000	0.438402	0.410000	0.380000																										0				51						c.(1489-1491)Cta>Ata		RAN binding protein 6							49.0	44.0	46.0					9																	6014119		2203	4300	6503	SO:0001583	missense	26953	0	0					g.chr9:6014119G>T	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.1489C>A	chr9.hg19:g.6014119G>T	ENSP00000259569:p.Leu497Ile	0					RANBP6_ENST00000485372.1_5'UTR	p.L497I	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	0	0	0	1.928190	O60518	RNBP6_HUMAN		1	1499	-		Acute lymphoblastic leukemia(23;0.158)	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	0	1	hg19	c.1489C>A	CCDS6467.1	0	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990396	0.35131	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	3.89	1.9	0.25705	3.89	1.9	0.25705	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.30947	0.0781	M	0.83953	2.67	0.58432	D	0.999999	P;P	0.40553	0.53;0.721	B;P	0.44447	0.333;0.45	T	0.07947	-1.0746	10	0.54805	T	0.06	-4.0108	2.0615	0.03593	0.2887:0.0:0.4467:0.2646	.	85;497	B4DTX6;O60518	.;RNBP6_HUMAN	I	497	ENSP00000259569:L497I	ENSP00000259569:L497I	L	-	1	2	2	RANBP6	6004119	6004119	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	2.717000	0.47227	0.521000	0.28445	0.650000	0.86243	CTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	0	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-8.584059	1	0.170000	NM_012416			6	6		167	164	0		1	0		0	0	35	0		9.638802e-01	3.863780e-01	0	0	0	34	0	6	167
RANBP6	26953	broad.mit.edu	37	9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	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	437					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		GGTGCAAAATCTGTAGCCATC	0.418																																						ENST00000259569.5	0.870000	0.280000	7.100000e-01	4.000000e-01	0.530000	0.559933	0.530000	0.510000																										0				51						c.(1309-1311)Gat>Tat		RAN binding protein 6							67.0	68.0	68.0					9																	6014299		2203	4300	6503	SO:0001583	missense	26953	0	0					g.chr9:6014299C>A	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.1309G>T	chr9.hg19:g.6014299C>A	ENSP00000259569:p.Asp437Tyr	0					RANBP6_ENST00000485372.1_5'UTR	p.D437Y	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	0	0	0	1.928190	O60518	RNBP6_HUMAN		1	1319	-		Acute lymphoblastic leukemia(23;0.158)	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	1	1	hg19	c.1309G>T	CCDS6467.1	0	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093604	0.56075	.	.	ENSG00000137040	ENST00000259569	T	0.68025	-0.3	4.21	4.21	0.49690	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.096988	0.64402	D	0.000002	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83086	-0.0135	10	0.48119	T	0.1	-12.605	14.8843	0.70555	0.0:1.0:0.0:0.0	.	25;437	B4DTX6;O60518	.;RNBP6_HUMAN	Y	437	ENSP00000259569:D437Y	ENSP00000259569:D437Y	D	-	1	0	0	RANBP6	6004299	6004299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.634000	0.89283	0.650000	0.86243	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-13.331120	1	0.170000	NM_012416			11	11		224	220	0		1	0		0	0	60	0		9.982926e-01	5.610763e-01	0	0	0	38	0	11	224
IL33	90865	broad.mit.edu	37	9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	17	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313																																						ENST00000381434.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999687	0.990000	1.000000																										0				16						c.(49-51)tgG>tgA		interleukin 33							90.0	88.0	88.0					9																	6241745		2203	4300	6503	SO:0001587	stop_gained	90865	0	0					g.chr9:6241745G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.51G>A	chr9.hg19:g.6241745G>A	ENSP00000370842:p.Trp17*	0					IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*	p.W17*	NM_033439.3	NP_254274.1	0	0	0	1.928190	O95760	IL33_HUMAN		1	64	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Nonsense_Mutation	SNP	ENST00000381434.3	0	1	hg19	c.51G>A	CCDS6468.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678039	0.47886	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	.	.	.	4.26	1.3	0.21679	4.26	1.3	0.21679	.	2.375840	0.01455	N	0.015626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.6912	4.6084	0.12389	0.2064:0.1902:0.6034:0.0	.	.	.	.	X	17	.	ENSP00000370842:W17X	W	+	3	0	0	IL33	6231745	6231745	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.121000	0.10643	0.299000	0.22661	0.485000	0.47835	TGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-15.514490	1	0.170000	NM_033439			25	23		124	124	1		1	0		0	0	26	0		9.999999e-01	4.716816e-01	0	0	0	9	0	25	124
IL33	90865	broad.mit.edu	37	9	6250583	6250583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000456383.2_Silent_p.R67R|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	67	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408																																						ENST00000381434.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(199-201)agG>agA		interleukin 33							87.0	84.0	85.0					9																	6250583		2203	4300	6503	SO:0001819	synonymous_variant	90865	0	0					g.chr9:6250583G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.201G>A	chr9.hg19:g.6250583G>A		0					IL33_ENST00000456383.2_Silent_p.R67R|IL33_ENST00000417746.2_Intron	p.R67R	NM_033439.3	NP_254274.1	0	0	0	1.928190	O95760	IL33_HUMAN		2	214	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Silent	SNP	ENST00000381434.3	1	1	hg19	c.201G>A	CCDS6468.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_033439			68	67		235	228	1		1	0		0	0	70	0		1	3.174692e-01	0	0	0	5	0	68	235
UHRF2	115426	broad.mit.edu	37	9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	371					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393																																						ENST00000276893.5	0.870000	0.420000	7.500000e-01	5.100000e-01	0.620000	0.639857	0.620000	0.620000																										0				17						c.(1111-1113)Att>Gtt		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							204.0	182.0	189.0					9																	6477759		2203	4300	6503	SO:0001583	missense	115426	0	0					g.chr9:6477759A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1111A>G	chr9.hg19:g.6477759A>G	ENSP00000276893:p.Ile371Val	0						p.I371V	NM_152896.2	NP_690856.1	0	0	0	1.928190	Q96PU4	UHRF2_HUMAN		6	1279	+		Acute lymphoblastic leukemia(23;0.158)	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	1	1	hg19	c.1111A>G	CCDS6469.1	0	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973270	0.74246	.	.	ENSG00000147854	ENST00000276893	T	0.56941	0.43	4.69	3.55	0.40652	4.69	3.55	0.40652	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056525	0.64402	N	0.000002	T	0.60958	0.2309	M	0.64997	1.995	0.80722	D	1	B;P	0.46859	0.418;0.885	B;P	0.55222	0.326;0.771	T	0.59306	-0.7479	10	0.48119	T	0.1	-8.4574	10.0363	0.42131	0.92:0.0:0.08:0.0	.	148;371	B3KV82;Q96PU4	.;UHRF2_HUMAN	V	371	ENSP00000276893:I371V	ENSP00000276893:I371V	I	+	1	0	0	UHRF2	6467759	6467759	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.352000	0.79404	0.676000	0.31285	-0.333000	0.08304	ATT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_152306			27	25		462	448	0		1	0		0	0	92	0		9.999999e-01	8.898464e-01	0	0	0	68	0	27	462
GLDC	2731	broad.mit.edu	37	9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	476					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)			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)	TTTTTCATTGACTGTTTCATC	0.378																																						ENST00000321612.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1426-1428)gTc>gCc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)						87.0	80.0	83.0					9																	6592198		2203	4300	6503	SO:0001583	missense	2731	0	0					g.chr9:6592198A>G	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.1427T>C	chr9.hg19:g.6592198A>G	ENSP00000370737:p.Val476Ala	0						p.V476A	NM_000170.2	NP_000161.2	0	0	0	1.928190	P23378	GCSP_HUMAN		11	1577	-		Acute lymphoblastic leukemia(23;0.161)	Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	1	1	hg19	c.1427T>C	CCDS34987.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697935	0.88830	.	.	ENSG00000178445	ENST00000321612	D	0.95690	-3.78	5.14	5.14	0.70334	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.133319	0.49916	D	0.000129	D	0.96781	0.8949	M	0.78049	2.395	0.80722	D	1	P	0.52692	0.955	P	0.55749	0.783	D	0.97172	0.9845	10	0.66056	D	0.02	-24.8041	14.9935	0.71412	1.0:0.0:0.0:0.0	.	476	P23378	GCSP_HUMAN	A	476	ENSP00000370737:V476A	ENSP00000370737:V476A	V	-	2	0	0	GLDC	6582198	6582198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.244000	0.89823	1.933000	0.56026	0.459000	0.35465	GTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_000170			64	64		213	210	1		1			0	0	69	0		1	0	0	0	0	0	0	64	213
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T	rs200354236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		CCCTGGGTAGCGATGTAGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4	1.000000	0.800000	1	9.900000e-01	0.990000	0.983522	0.990000	1.000000																										0				168						c.(5146-5148)Gct>Act		protein tyrosine phosphatase, receptor type, D							104.0	94.0	97.0					9																	8340450		2203	4300	6503	SO:0001583	missense	5789	0	0					g.chr9:8340450C>T	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.5146G>A	chr9.hg19:g.8340450C>T	ENSP00000370593:p.Ala1716Thr	0	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T	p.A1716T	NM_002839.3	NP_002830.1	0	0	0	1.928190	P23468	PTPRD_HUMAN		39	5689	-		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)	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	1	1	hg19	c.5146G>A	CCDS43786.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855189	0.91355	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.98	5.98	0.97165	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.97240	3.965	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;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.986;0.986;0.986;0.986;0.98;0.977;0.994;0.999;0.928	D	0.96522	0.9386	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1309;1300;1309;1310;1306;1306;1703;1716;1716	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1716;1716;1703;1694;1310;1309;1306;1306;1187;1716;1309;1309	ENSP00000370593:A1716T;ENSP00000348812:A1716T;ENSP00000353187:A1703T;ENSP00000351293:A1694T;ENSP00000347373:A1310T;ENSP00000380741:A1309T;ENSP00000380735:A1306T;ENSP00000440515:A1306T;ENSP00000438164:A1716T;ENSP00000417093:A1309T;ENSP00000380731:A1309T	.	A	-	1	0	0	PTPRD	8330450	8330450	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000				24	24		198	191	1		1	0		0	0	53	0		9.999997e-01	3.560893e-02	0	0	0	3	0	24	198
PTPRD	5789	broad.mit.edu	37	9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1496	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		TGCAAATGTTCGAACACAATA	0.418										TSP Lung(15;0.13)																												ENST00000381196.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				168						c.(4486-4488)cGa>cAa		protein tyrosine phosphatase, receptor type, D							191.0	151.0	165.0					9																	8376626		2203	4300	6503	SO:0001583	missense	5789	1	121410	28				g.chr9:8376626C>T	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.4487G>A	chr9.hg19:g.8376626C>T	ENSP00000370593:p.Arg1496Gln	0	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q	p.R1496Q	NM_002839.3	NP_002830.1	0	0	0	1.928190	P23468	PTPRD_HUMAN		35	5030	-		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)	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	1	1	hg19	c.4487G>A	CCDS43786.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200664	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.57	5.57	0.84162	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115754	0.56097	D	0.000037	T	0.76321	0.3971	H	0.97896	4.1	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;P;D;D;D	0.91635	0.974;0.974;0.974;0.974;0.991;0.88;0.995;0.934;0.999	D	0.85504	0.1193	9	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	1089;1080;1089;1090;1086;1086;1483;1496;1496	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1496;1496;1483;1474;1090;1089;1086;1086;967;1496;1089;1089	ENSP00000370593:R1496Q;ENSP00000348812:R1496Q;ENSP00000353187:R1483Q;ENSP00000351293:R1474Q;ENSP00000347373:R1090Q;ENSP00000380741:R1089Q;ENSP00000380735:R1086Q;ENSP00000440515:R1086Q;ENSP00000438164:R1496Q;ENSP00000417093:R1089Q;ENSP00000380731:R1089Q	.	R	-	2	0	0	PTPRD	8366626	8366626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.419000	0.80179	2.633000	0.89246	0.591000	0.81541	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1		2	2	2	0		0	0	70		70	69	1	2.060000	-20.000000	1	0.170000				56	55		231	226	1		1	0		0	0	70	0		1	0	0	0	0	1	0	56	231
PTPRD	5789	broad.mit.edu	37	9	8636735	8636735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	58	Ig-like C2-type 1.				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)			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)		TTCCTTTTTTGTTCCAGACAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				168						c.(172-174)aaC>aaT		protein tyrosine phosphatase, receptor type, D							122.0	116.0	118.0					9																	8636735		2203	4300	6503	SO:0001819	synonymous_variant	5789	0	0					g.chr9:8636735G>A	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.174C>T	chr9.hg19:g.8636735G>A		0	TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N	p.N58N	NM_002839.3	NP_002830.1	0	0	0	1.928190	P23468	PTPRD_HUMAN		10	717	-		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)	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	1	1	hg19	c.174C>T	CCDS43786.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000				97	95		533	525	1		1	0		0	0	107	0		1	6.491110e-02	0	0	0	3	0	97	533
PTPRD	5789	broad.mit.edu	37	9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	24	Ig-like C2-type 1.				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)			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)		GTAAACCTTGGAGGTGCTGAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				168						c.(70-72)Cca>Tca		protein tyrosine phosphatase, receptor type, D							60.0	63.0	62.0					9																	8636839		2203	4300	6503	SO:0001583	missense	5789	0	0					g.chr9:8636839G>A	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.70C>T	chr9.hg19:g.8636839G>A	ENSP00000370593:p.Pro24Ser	0	TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S	p.P24S	NM_002839.3	NP_002830.1	0	0	0	1.928190	P23468	PTPRD_HUMAN		10	613	-		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)	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	1	1	hg19	c.70C>T	CCDS43786.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013073	0.93346	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.92738	3.34	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	0.999;1.0;0.999;0.999;1.0;0.997;0.999;1.0;0.997;1.0	D	0.96334	0.9246	9	.	.	.	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	24;24;24;24;24;24;24;24;24;24	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	24	ENSP00000370593:P24S;ENSP00000348812:P24S;ENSP00000353187:P24S;ENSP00000351293:P24S;ENSP00000347373:P24S;ENSP00000380741:P24S;ENSP00000380735:P24S;ENSP00000440515:P24S;ENSP00000438164:P24S;ENSP00000417093:P24S;ENSP00000380731:P24S;ENSP00000417661:P24S;ENSP00000417890:P24S	.	P	-	1	0	0	PTPRD	8626839	8626839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.764000	0.94973	0.650000	0.86243	CCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-20.000000	1	0.170000				56	53		343	337	1		1	0		0	0	65	0		1	1.003685e-01	0	0	0	4	0	56	343
NFIB	4781	broad.mit.edu	37	9	14307409	14307409	+	Silent	SNP	C	C	T	rs545983563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	47					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)			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)		TTGACATTCGCTTCTCATGCT	0.458			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9p24.1	9p24.1	4781	T	nuclear factor I/B				E	E	MYB, HGMA2		adenoid cystic carcinoma, lipoma		0				17						c.(139-141)aaG>aaA		nuclear factor I/B							137.0	127.0	131.0					9																	14307409		2203	4300	6503	SO:0001819	synonymous_variant	4781	1	121412	31				g.chr9:14307409C>T	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.141G>A	chr9.hg19:g.14307409C>T		0					NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K|NFIB_ENST00000397575.3_Silent_p.K47K	p.K47K	NM_005596.3	NP_005587.2	0	0	0	1.928190	O00712	NFIB_HUMAN		2	614	-			G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	1	1	hg19	c.141G>A	CCDS6474.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	0	0	1		19	9	2	1		1	1	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_005596			64	63		254	250	1		1	1		1	0	51	0		1	9.988877e-01	0	45	0	61	0	64	254
CER1	9350	broad.mit.edu	37	9	14720268	14720268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	208	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522																																						ENST00000380911.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(622-624)caC>caT		cerberus 1, DAN family BMP antagonist							137.0	110.0	119.0					9																	14720268		2203	4300	6503	SO:0001819	synonymous_variant	9350	0	0					g.chr9:14720268G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.624C>T	chr9.hg19:g.14720268G>A		0						p.H208H	NM_005454.2	NP_005445.1	0	0	0	1.928190	O95813	CER1_HUMAN		2	668	-			Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	1	1	hg19	c.624C>T	CCDS6476.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	1	0	0		20	2	2	1		1	2	70		70	69	1	2.060000	-20.000000	1	0.170000	NM_005454			49	46		244	240	1		1			1	0	70	0		9.999218e-01	0	0	0	0	0	0	49	244
FREM1	158326	broad.mit.edu	37	9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380880.3	-	33	6736	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1985					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)			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)		TGAGGCAGTTCTGCCACTTTG	0.423																																						ENST00000380880.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(5953-5955)Gaa>Taa		FRAS1 related extracellular matrix 1							222.0	207.0	212.0					9																	14747318		1943	4155	6098	SO:0001587	stop_gained	158326	0	0					g.chr9:14747318C>A	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.5953G>T	chr9.hg19:g.14747318C>A	ENSP00000370262:p.Glu1985*	0					FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*	p.E1985*			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		33	6736	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	0	1	hg19	c.5953G>T	CCDS47952.1	1	.	.	.	.	.	.	.	.	.	.	C	50	16.906635	0.99874	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.64	4.73	0.59995	5.64	4.73	0.59995	.	0.592171	0.18006	N	0.154748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2242	14.7377	0.69427	0.0:0.8557:0.1443:0.0	.	.	.	.	X	1986;1985;521;1985	.	ENSP00000370262:E1985X	E	-	1	0	0	FREM1	14737318	14737318	0.998000	0.40836	0.161000	0.22692	0.466000	0.32739	3.625000	0.54238	1.340000	0.45581	0.655000	0.94253	GAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_144966			91	90		553	538	1		1	0		0	0	112	0		1	5.690945e-01	0	0	0	13	0	91	553
FREM1	158326	broad.mit.edu	37	9	14769800	14769800	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14769800T>C	ENST00000380880.3	-	27	5909	c.5126A>G	c.(5125-5127)aAc>aGc	p.N1709S	FREM1_ENST00000422223.2_Missense_Mutation_p.N1709S|FREM1_ENST00000380881.4_Missense_Mutation_p.N1710S|FREM1_ENST00000380894.1_Missense_Mutation_p.N245S|FREM1_ENST00000486223.1_5'UTR			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1709					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)			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)		CAAAGATGGGTTTATGATGTA	0.343																																						ENST00000380880.3	0.980000	0.250000	7.700000e-01	3.800000e-01	0.550000	0.577897	0.550000	1.000000																										0				100						c.(5125-5127)aAc>aGc		FRAS1 related extracellular matrix 1							82.0	81.0	81.0					9																	14769800		1807	4072	5879	SO:0001583	missense	158326	0	0					g.chr9:14769800T>C	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.5126A>G	chr9.hg19:g.14769800T>C	ENSP00000370262:p.Asn1709Ser	0					FREM1_ENST00000380881.4_Missense_Mutation_p.N1710S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.N1709S|FREM1_ENST00000380894.1_Missense_Mutation_p.N245S	p.N1709S			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		27	5909	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	1	0	hg19	c.5126A>G	CCDS47952.1	0	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402500	0.42613	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.50001	2.86;2.86;0.76;2.86	5.86	4.72	0.59763	5.86	4.72	0.59763	.	0.090442	0.85682	N	0.000000	T	0.45216	0.1331	M	0.66506	2.035	0.38529	D	0.948913	B;B	0.20261	0.006;0.043	B;B	0.18871	0.023;0.014	T	0.42137	-0.9469	10	0.33940	T	0.23	-20.8851	10.9464	0.47304	0.0:0.077:0.0:0.923	.	1709;245	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	S	1710;1709;245;1709;122	ENSP00000370263:N1710S;ENSP00000412940:N1709S;ENSP00000370278:N245S;ENSP00000370262:N1709S	ENSP00000370262:N1709S	N	-	2	0	0	FREM1	14759800	14759800	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.107000	0.50329	1.140000	0.42260	0.528000	0.53228	AAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1		2	2	2	0		0	0	41		41	41	1	2.060000	-10.290870	1	0.170000	NM_144966			7	6		141	141	0		1	0		0	0	41	0		9.809576e-01	8.443529e-02	0	0	0	9	0	7	141
FREM1	158326	broad.mit.edu	37	9	14819312	14819312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380880.3	-	14	3249	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_ENST00000422223.2_Silent_p.H822H|FREM1_ENST00000380881.4_Silent_p.H823H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	822					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)			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)		CCACCCTTCCGTGCAGAGGCA	0.458																																						ENST00000380880.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(2464-2466)caC>caT		FRAS1 related extracellular matrix 1							105.0	102.0	103.0					9																	14819312		1926	4131	6057	SO:0001819	synonymous_variant	158326	3	120850	37				g.chr9:14819312G>A	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.2466C>T	chr9.hg19:g.14819312G>A		0					FREM1_ENST00000380881.4_Silent_p.H823H|FREM1_ENST00000422223.2_Silent_p.H822H	p.H822H			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		14	3249	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	1	1	hg19	c.2466C>T	CCDS47952.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-3.631210	1	0.170000	NM_144966			49	48		180	178	1		1	0		0	0	38	0		1	4.663237e-01	0	0	0	7	0	49	180
FREM1	158326	broad.mit.edu	37	9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380880.3	-	10	2551	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y|FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	590					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)			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)		TTAAACAAATCCCTCTGAAGG	0.388																																						ENST00000380880.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.998592	0.990000	1.000000																										0				100						c.(1768-1770)Gat>Tat		FRAS1 related extracellular matrix 1							136.0	126.0	129.0					9																	14841558		1851	4098	5949	SO:0001583	missense	158326	0	0					g.chr9:14841558C>A	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.1768G>T	chr9.hg19:g.14841558C>A	ENSP00000370262:p.Asp590Tyr	0					FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y	p.D590Y			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		10	2551	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	1	1	hg19	c.1768G>T	CCDS47952.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733208	0.89482	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54866	0.55;0.55;0.55	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	10	0.87932	D	0	-17.8822	20.5568	0.99304	0.0:1.0:0.0:0.0	.	590	Q5H8C1	FREM1_HUMAN	Y	591;590;590	ENSP00000370263:D591Y;ENSP00000412940:D590Y;ENSP00000370262:D590Y	ENSP00000370257:D593Y	D	-	1	0	0	FREM1	14831558	14831558	1.000000	0.71417	0.767000	0.31495	0.938000	0.57974	7.417000	0.80156	2.861000	0.98227	0.655000	0.94253	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1		2	2	2	0		0	0	101		101	98	1	2.060000	-19.786470	1	0.170000	NM_144966			58	57		455	447	1		1	0		0	0	101	0		1	3.668397e-02	0	0	0	3	0	58	455
FREM1	158326	broad.mit.edu	37	9	14842621	14842621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	ENST00000380880.3	-	9	2214	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H|FREM1_ENST00000380881.4_Missense_Mutation_p.Q478H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	477					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)			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)		CAACTCCAGCCTGGAGGTCAG	0.542																																						ENST00000380880.3	0.650000	0.220000	5.300000e-01	3.100000e-01	0.410000	0.426300	0.410000	0.400000																										0				100						c.(1429-1431)caG>caT		FRAS1 related extracellular matrix 1							84.0	88.0	86.0					9																	14842621		2087	4208	6295	SO:0001583	missense	158326	0	0					g.chr9:14842621C>A	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.1431G>T	chr9.hg19:g.14842621C>A	ENSP00000370262:p.Gln477His	0					FREM1_ENST00000380881.4_Missense_Mutation_p.Q478H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H	p.Q477H			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		9	2214	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	0	1	hg19	c.1431G>T	CCDS47952.1	0	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476743	0.63849	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26810	1.71;1.71;1.71	5.63	1.72	0.24424	5.63	1.72	0.24424	.	0.104852	0.64402	D	0.000003	T	0.24236	0.0587	N	0.21373	0.66	0.44619	D	0.997598	D	0.54397	0.966	P	0.52554	0.702	T	0.01111	-1.1448	10	0.45353	T	0.12	-11.4335	10.6614	0.45704	0.0:0.745:0.0:0.2549	.	477	Q5H8C1	FREM1_HUMAN	H	478;477;477	ENSP00000370263:Q478H;ENSP00000412940:Q477H;ENSP00000370262:Q477H	ENSP00000370257:Q480H	Q	-	3	2	2	FREM1	14832621	14832621	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.425000	0.34859	0.125000	0.18397	-0.136000	0.14681	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	0	0	1		2	2	2	0		0	0	117		117	115	1	2.060000	-13.261620	1	0.170000	NM_144966			13	11		352	341	0		1	0		0	0	117	0		9.994349e-01	2.076262e-02	0	0	0	6	0	13	352
FREM1	158326	broad.mit.edu	37	9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380880.3	-	6	1867	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	362					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)			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)		TCACTGAGATCTTTCCAGGTG	0.493																																						ENST00000380880.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				100						c.(1084-1086)Gat>Tat		FRAS1 related extracellular matrix 1							106.0	105.0	106.0					9																	14851350		2090	4217	6307	SO:0001583	missense	158326	0	0					g.chr9:14851350C>A	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.1084G>T	chr9.hg19:g.14851350C>A	ENSP00000370262:p.Asp362Tyr	0					FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|RNU6-1260P_ENST00000362944.1_RNA	p.D362Y			0	0	0	1.928190	Q5H8C1	FREM1_HUMAN		6	1867	-			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	1	1	hg19	c.1084G>T	CCDS47952.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544991	0.86022	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.69;1.68;1.68	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88906	2.99	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.63808	-0.6553	10	0.87932	D	0	-20.9343	14.6418	0.68732	0.0:0.9309:0.0:0.0691	.	362	Q5H8C1	FREM1_HUMAN	Y	363;362;362	ENSP00000370263:D363Y;ENSP00000412940:D362Y;ENSP00000370262:D362Y	ENSP00000370257:D365Y	D	-	1	0	0	FREM1	14841350	14841350	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	4.660000	0.61511	2.850000	0.98022	0.655000	0.94253	GAT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000	NM_144966			56	54		227	221	1		1	0		0	0	57	0		1	6.200282e-01	0	1	0	9	0	56	227
SNAPC3	6619	broad.mit.edu	37	9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	40					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)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAAATACGCGCGCTTTCCAT	0.687																																						ENST00000380821.3	1.000000	0.950000	1	9.900000e-01	0.990000	0.996577	0.990000	1.000000																										0				12						c.(118-120)cGc>cAc		small nuclear RNA activating complex, polypeptide 3, 50kDa							23.0	25.0	24.0					9																	15422996		2195	4291	6486	SO:0001583	missense	6619	0	0					g.chr9:15422996G>A	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.119G>A	chr9.hg19:g.15422996G>A	ENSP00000370200:p.Arg40His	0						p.R40H	NM_001039697.1	NP_001034786.1	0	0	0	1.928190	Q92966	SNPC3_HUMAN		1	295	+			D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	0	1	hg19	c.119G>A	CCDS6478.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860655	0.32884	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50813	0.73	5.36	2.33	0.28932	5.36	2.33	0.28932	.	0.410761	0.27500	N	0.019097	T	0.39172	0.1068	L	0.51422	1.61	0.19775	N	0.999953	D;P	0.54047	0.964;0.832	B;B	0.43082	0.407;0.151	T	0.33369	-0.9871	10	0.72032	D	0.01	-15.0524	6.5701	0.22533	0.1793:0.1541:0.6666:0.0	.	40;40	B4DDR9;Q92966	.;SNPC3_HUMAN	H	40	ENSP00000370200:R40H	ENSP00000370185:R40H	R	+	2	0	0	SNAPC3	15412996	15412996	0.239000	0.23836	0.423000	0.26634	0.171000	0.22731	2.301000	0.43628	0.838000	0.34948	-0.304000	0.09214	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	1	0	1		2	2	2	0		0	0	9		9	8	1	2.060000	-19.999990	1	0.170000	NM_001039697			14	14		68	63	0		1	1		0	0	9	0		9.997565e-01	9.455403e-01	0	5	0	22	0	14	68
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463																																						ENST00000380672.4	0.540000	0.210000	4.500000e-01	2.800000e-01	0.350000	0.370467	0.350000	0.350000																										0				60						c.(1456-1458)cGt>cAt		basonuclin 2							143.0	133.0	137.0					9																	16436735		2203	4300	6503	SO:0001583	missense	54796	0	0					g.chr9:16436735C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1457G>A	chr9.hg19:g.16436735C>T	ENSP00000370047:p.Arg486His	0					BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	p.R486H	NM_017637.5	NP_060107.3	0	0	0	1.928190				6	1514	-				Missense_Mutation	SNP	ENST00000380672.4	1	1	hg19	c.1457G>A	CCDS6482.2	0	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	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;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	0	BNC2	16426735	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	0	1		2	2	2	0		0	0	102		102	101	1	2.060000	-3.145375	1	0.170000	NM_017637			17	17		527	513	0		1	0		0	0	102	0		9.999574e-01	7.810636e-02	0	0	0	14	0	17	527
BNC2	54796	broad.mit.edu	37	9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000545497.1_Missense_Mutation_p.T320A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGTTTTGGTTAGATCACTG	0.483																																						ENST00000380672.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1243-1245)Acc>Gcc		basonuclin 2							83.0	78.0	80.0					9																	16436949		2203	4300	6503	SO:0001583	missense	54796	0	0					g.chr9:16436949T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1243A>G	chr9.hg19:g.16436949T>C	ENSP00000370047:p.Thr415Ala	0					BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	p.T415A	NM_017637.5	NP_060107.3	0	0	0	1.928190				6	1300	-				Missense_Mutation	SNP	ENST00000380672.4	1	1	hg19	c.1243A>G	CCDS6482.2	1	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131188	0.01756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30981	1.53;1.52;1.54;1.54;1.51	6.07	2.28	0.28536	6.07	2.28	0.28536	.	0.910256	0.09748	N	0.761036	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.18276	T	0.48	-7.7067	5.7067	0.17913	0.5184:0.0903:0.0:0.3913	.	320;348;415;241;415;372;415;320;180	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	415;372;348;320;241;415;415	ENSP00000370047:T415A;ENSP00000408370:T372A;ENSP00000370042:T348A;ENSP00000444640:T320A;ENSP00000370041:T415A	ENSP00000370041:T415A	T	-	1	0	0	BNC2	16426949	16426949	0.510000	0.26171	0.715000	0.30552	0.046000	0.14306	1.029000	0.30140	0.462000	0.27095	0.533000	0.62120	ACC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_017637			54	54		242	237	1		1	0		0	0	53	0		1	7.537297e-01	0	0	0	14	0	54	242
BNC2	54796	broad.mit.edu	37	9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000545497.1_Missense_Mutation_p.T279A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATAAGGTGTGGGAGAAACT	0.473																																						ENST00000380672.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1120-1122)Aca>Gca		basonuclin 2							110.0	112.0	111.0					9																	16437072		2203	4300	6503	SO:0001583	missense	54796	0	0					g.chr9:16437072T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1120A>G	chr9.hg19:g.16437072T>C	ENSP00000370047:p.Thr374Ala	0					BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	p.T374A	NM_017637.5	NP_060107.3	0	0	0	1.928190				6	1177	-				Missense_Mutation	SNP	ENST00000380672.4	1	1	hg19	c.1120A>G	CCDS6482.2	1	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635166	0.14322	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.29397	1.57;1.57;1.58;1.58;1.57	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.102553	0.64402	D	0.000002	T	0.17365	0.0417	N	0.14661	0.345	0.37568	D	0.919307	B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.004;0.001;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B;B;B	0.12156	0.001;0.0;0.001;0.007;0.003;0.0;0.0;0.0;0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-11.4966	11.4686	0.50254	0.0:0.0695:0.0:0.9305	.	279;307;374;200;374;331;374;279;139	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	374;331;307;279;200;374;374	ENSP00000370047:T374A;ENSP00000408370:T331A;ENSP00000370042:T307A;ENSP00000444640:T279A;ENSP00000370041:T374A	ENSP00000370041:T374A	T	-	1	0	0	BNC2	16427072	16427072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.615000	0.46368	2.270000	0.75569	0.533000	0.62120	ACA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	1	0	1		17	2	2	1		1	1	71		71	70	1	2.060000	-20.000000	1	0.170000	NM_017637			65	65		295	291	1		1	0		1	0	71	0		1	5.066936e-01	0	0	0	9	0	65	295
CNTLN	54875	broad.mit.edu	37	9	17298326	17298326	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	374					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)			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)		ATGTTCACACAGCTGAAAGTA	0.333																																						ENST00000380647.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999439	0.990000	1.000000																										0				53						c.(1120-1122)acA>acG		centlein, centrosomal protein							70.0	67.0	68.0					9																	17298326		1883	4109	5992	SO:0001819	synonymous_variant	54875	2	120808	29				g.chr9:17298326A>G	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.1122A>G	chr9.hg19:g.17298326A>G		0					CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T	p.T374T			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		7	1206	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	1	1	hg19	c.1122A>G	CCDS43789.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-15.451150	1	0.170000	NM_017738			30	28		179	174	1		1	0		0	0	31	0		1	1.072103e-01	0	1	0	3	0	30	179
CNTLN	54875	broad.mit.edu	37	9	17330786	17330786	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17330786A>C	ENST00000380647.3	+	9	1582	c.1498A>C	c.(1498-1500)Agt>Cgt	p.S500R	CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	500					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)			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)		CATCATGACAAGTGCTGAAGG	0.373																																						ENST00000380647.3	0.500000	0.180000	4.100000e-01	2.400000e-01	0.310000	0.330252	0.310000	0.310000																										0				53						c.(1498-1500)Agt>Cgt		centlein, centrosomal protein							108.0	102.0	104.0					9																	17330786		1875	4096	5971	SO:0001583	missense	54875	0	0					g.chr9:17330786A>C	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.1498A>C	chr9.hg19:g.17330786A>C	ENSP00000370021:p.Ser500Arg	0					CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R	p.S500R			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		9	1582	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	1	1	hg19	c.1498A>C	CCDS43789.1	0	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555123	0.27739	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36157	1.27;1.27;1.27	2.82	1.6	0.23607	2.82	1.6	0.23607	.	.	.	.	.	T	0.41811	0.1175	L	0.56769	1.78	0.09310	N	1	B;D;D	0.64830	0.112;0.994;0.994	B;P;P	0.56960	0.032;0.81;0.81	T	0.22800	-1.0206	9	0.20519	T	0.43	.	5.0658	0.14582	0.7361:0.0:0.0:0.2639	.	500;500;500	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	R	500	ENSP00000370021:S500R;ENSP00000392798:S500R;ENSP00000262360:S500R	ENSP00000262360:S500R	S	+	1	0	0	CNTLN	17320786	17320786	0.007000	0.16637	0.055000	0.19348	0.588000	0.36517	1.997000	0.40786	0.439000	0.26476	0.528000	0.53228	AGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	0	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-3.567758	1	0.170000	NM_017738			14	13		494	485	0		1	0		0	0	102	0		9.997237e-01	2.840220e-02	0	0	0	9	0	14	494
CNTLN	54875	broad.mit.edu	37	9	17340942	17340942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17340942G>T	ENST00000380647.3	+	11	1846	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	588					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)			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)		AGAAGGCAGTGGCATGTGAGT	0.388																																						ENST00000380647.3	0.560000	0.100000	4.200000e-01	1.800000e-01	0.280000	0.306725	0.280000	0.260000																										0				53						c.(1762-1764)Ggc>Tgc		centlein, centrosomal protein							81.0	74.0	76.0					9																	17340942		1914	4142	6056	SO:0001583	missense	54875	0	0					g.chr9:17340942G>T	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.1762G>T	chr9.hg19:g.17340942G>T	ENSP00000370021:p.Gly588Cys	0					CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C	p.G588C			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		11	1846	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	0	1	hg19	c.1762G>T	CCDS43789.1	0	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330380	0.60743	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11604	2.76;2.76;2.76	5.4	3.3	0.37823	5.4	3.3	0.37823	.	.	.	.	.	T	0.22781	0.0550	M	0.64997	1.995	0.35483	D	0.798318	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.69479	0.964;0.947;0.947	T	0.20974	-1.0259	9	0.62326	D	0.03	.	4.1643	0.10300	0.4102:0.0:0.5898:0.0	.	588;588;588	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	C	588	ENSP00000370021:G588C;ENSP00000392798:G588C;ENSP00000262360:G588C	ENSP00000262360:G588C	G	+	1	0	0	CNTLN	17330942	17330942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.094000	0.50227	1.259000	0.44117	0.591000	0.81541	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	0	0	0		2	2	2	0		0	0	31		31	31	1	2.060000	-6.672834	1	0.170000	NM_017738			5	5		209	208	0		1	0		0	0	31	0		9.375073e-01	3.966289e-02	0	0	0	11	0	5	209
CNTLN	54875	broad.mit.edu	37	9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	751					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)			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)		AAGGGGAGTAAAGATGTAGAA	0.363																																						ENST00000380647.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(2251-2253)aAa>aCa		centlein, centrosomal protein							85.0	80.0	81.0					9																	17394704		1836	4103	5939	SO:0001583	missense	54875	0	0					g.chr9:17394704A>C	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.2252A>C	chr9.hg19:g.17394704A>C	ENSP00000370021:p.Lys751Thr	0					CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T	p.K751T			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		15	2336	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	1	1	hg19	c.2252A>C	CCDS43789.1	1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.334863	0.01287	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18174	2.23;2.23;2.49	5.56	1.7	0.24286	5.56	1.7	0.24286	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.008;0.009;0.006	T	0.35624	-0.9781	9	0.27785	T	0.31	.	1.5427	0.02558	0.3752:0.1479:0.3343:0.1427	.	751;751;751	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	751	ENSP00000370021:K751T;ENSP00000392798:K751T;ENSP00000262360:K751T	ENSP00000262360:K751T	K	+	2	0	0	CNTLN	17384704	17384704	0.218000	0.23608	0.082000	0.20525	0.634000	0.38068	0.444000	0.21661	0.309000	0.22966	0.528000	0.53228	AAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_017738			68	66		238	233	1		1	1		0	0	61	0		1	8.753273e-01	0	2	0	13	0	68	238
CNTLN	54875	broad.mit.edu	37	9	17416182	17416182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17416182A>C	ENST00000380647.3	+	18	3193	c.3109A>C	c.(3109-3111)Ata>Cta	p.I1037L	CNTLN_ENST00000262360.5_Missense_Mutation_p.I1037L|CNTLN_ENST00000425824.1_Missense_Mutation_p.I1037L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1037					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)			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)		CAGGCAGACAATAAAGGTAAA	0.308																																						ENST00000380647.3	1.000000	0.500000	9.800000e-01	6.300000e-01	0.790000	0.799658	0.790000	1.000000																										0				53						c.(3109-3111)Ata>Cta		centlein, centrosomal protein							66.0	60.0	62.0					9																	17416182		1826	4078	5904	SO:0001583	missense	54875	0	0					g.chr9:17416182A>C	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.3109A>C	chr9.hg19:g.17416182A>C	ENSP00000370021:p.Ile1037Leu	0					CNTLN_ENST00000262360.5_Missense_Mutation_p.I1037L|CNTLN_ENST00000425824.1_Missense_Mutation_p.I1037L	p.I1037L			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		18	3193	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	1	0	hg19	c.3109A>C	CCDS43789.1	0	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271993	0.40194	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.20598	2.06;2.06;2.32	4.95	3.78	0.43462	4.95	3.78	0.43462	.	.	.	.	.	T	0.24160	0.0585	M	0.69823	2.125	0.26036	N	0.98168	P;P;P	0.41102	0.627;0.738;0.738	B;B;B	0.42593	0.295;0.392;0.392	T	0.10042	-1.0647	9	0.18276	T	0.48	.	7.152	0.25616	0.8085:0.0:0.1915:0.0	.	1037;1037;1037	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	L	1037	ENSP00000370021:I1037L;ENSP00000392798:I1037L;ENSP00000262360:I1037L	ENSP00000262360:I1037L	I	+	1	0	0	CNTLN	17406182	17406182	0.991000	0.36638	1.000000	0.80357	0.852000	0.48524	2.050000	0.41297	0.803000	0.34113	0.383000	0.25322	ATA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-19.999990	1	0.170000	NM_017738			20	20		265	263	0		1	0		0	0	44	0		9.999957e-01	3.806287e-01	0	0	0	18	0	20	265
CNTLN	54875	broad.mit.edu	37	9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1242					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)			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)		ATCTGCAATGGCAGAAATTGA	0.378																																						ENST00000380647.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.995154	0.990000	1.000000																										0				53						c.(3724-3726)Gca>Tca		centlein, centrosomal protein							81.0	74.0	76.0					9																	17466758		1865	4100	5965	SO:0001583	missense	54875	0	0					g.chr9:17466758G>T	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.3724G>T	chr9.hg19:g.17466758G>T	ENSP00000370021:p.Ala1242Ser	0					CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S	p.A1242S			0	0	0	1.928190	Q9NXG0	CNTLN_HUMAN		23	3808	+			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	1	1	hg19	c.3724G>T	CCDS43789.1	1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077479	0.36662	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.43	5.32	3.14	0.36123	5.32	3.14	0.36123	.	.	.	.	.	T	0.19644	0.0472	L	0.48642	1.525	0.25935	N	0.982942	P;B;B	0.47191	0.891;0.211;0.211	P;B;B	0.47299	0.543;0.13;0.13	T	0.05194	-1.0900	9	0.11485	T	0.65	.	6.0083	0.19559	0.2483:0.0:0.6027:0.149	.	1242;1242;1242	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	1242	ENSP00000370021:A1242S;ENSP00000392798:A1242S;ENSP00000262360:A1242S	ENSP00000262360:A1242S	A	+	1	0	0	CNTLN	17456758	17456758	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	0.348000	0.20031	1.245000	0.43885	-0.145000	0.13849	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-12.670350	1	0.170000	NM_017738			26	26		187	186	1		1	0		0	0	58	0		9.999999e-01	4.939383e-01	0	1	0	12	0	26	187
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T	rs374475613		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																						ENST00000380548.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(484-486)tgC>tgT		ADAMTS-like 1		C	,	0,4406		0,0,2203	103.0	92.0	96.0		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949	3	121412	37				g.chr9:18622252C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	chr9.hg19:g.18622252C>T		0					ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C	p.C162C	NM_001040272.5	NP_001035362.3	0	0	0	1.928190	Q8N6G6	ATL1_HUMAN		5	825	+			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	1	1	hg19	c.486C>T	CCDS47954.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1		2	2	2	0		0	0	81		81	79	1	2.060000	-3.398422	1	0.170000				64	61		263	258	1		1	0		0	0	81	0		1	3.951368e-02	0	0	0	2	0	64	263
ADAMTSL1	92949	broad.mit.edu	37	9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000380548.4	+	12	1746	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	469	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517																																						ENST00000380548.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1405-1407)atG>atA		ADAMTS-like 1							235.0	216.0	222.0					9																	18681875		2203	4300	6503	SO:0001583	missense	92949	0	0					g.chr9:18681875G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1407G>A	chr9.hg19:g.18681875G>A	ENSP00000369921:p.Met469Ile	0					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I	p.M469I	NM_001040272.5	NP_001035362.3	0	0	0	1.928190	Q8N6G6	ATL1_HUMAN		12	1746	+			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	1	1	hg19	c.1407G>A	CCDS47954.1	1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577051	0.28092	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.53423	0.62;0.62;0.62	5.71	4.81	0.61882	5.71	4.81	0.61882	.	.	.	.	.	T	0.25865	0.0630	N	0.04335	-0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06075	-1.0847	9	0.39692	T	0.17	.	10.9033	0.47065	0.1429:0.0:0.8571:0.0	.	469	Q8N6G6	ATL1_HUMAN	I	469	ENSP00000369921:M469I;ENSP00000327887:M469I;ENSP00000276935:M469I	ENSP00000276935:M469I	M	+	3	0	0	ADAMTSL1	18671875	18671875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.337000	0.33862	1.558000	0.49541	0.650000	0.86243	ATG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	0	0	1		2	2	2	0		0	0	255		255	254	1	2.060000	-20.000000	1	0.170000				179	176		821	806	1		1	0		0	0	255	0		1	3.241772e-02	0	0	0	2	0	179	821
ADAMTSL1	92949	broad.mit.edu	37	9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000380548.4	+	15	2230	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	631	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587																																						ENST00000380548.4	0.790000	0.390000	6.900000e-01	4.800000e-01	0.570000	0.590925	0.570000	0.570000																										0				42						c.(1891-1893)Gtg>Atg		ADAMTS-like 1							98.0	100.0	99.0					9																	18721548		2203	4300	6503	SO:0001583	missense	92949	0	0					g.chr9:18721548G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1891G>A	chr9.hg19:g.18721548G>A	ENSP00000369921:p.Val631Met	0					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	p.V631M	NM_001040272.5	NP_001035362.3	0	0	0	1.928190	Q8N6G6	ATL1_HUMAN		15	2230	+			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	1	1	hg19	c.1891G>A	CCDS47954.1	0	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121444	0.77436	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61392	0.11;0.11	5.86	5.86	0.93980	5.86	5.86	0.93980	.	.	.	.	.	T	0.63733	0.2536	L	0.39020	1.185	0.80722	D	1	D	0.69078	0.997	D	0.63877	0.919	T	0.60031	-0.7342	9	0.35671	T	0.21	.	13.052	0.58960	0.0739:0.0:0.9261:0.0	.	631	Q8N6G6	ATL1_HUMAN	M	631	ENSP00000369921:V631M;ENSP00000276935:V631M	ENSP00000276935:V631M	V	+	1	0	0	ADAMTSL1	18711548	18711548	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.476000	0.73587	2.774000	0.95407	0.650000	0.86243	GTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-5.735836	1	0.170000				30	30		558	539	0		1	0		0	0	129	0		1	1.582819e-02	0	0	0	4	0	30	558
ADAMTSL1	92949	broad.mit.edu	37	9	18777494	18777494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1089						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667																																						ENST00000380548.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.996243	0.990000	1.000000																										0				42						c.(3265-3267)ccC>ccT		ADAMTS-like 1							14.0	18.0	16.0					9																	18777494		2075	4189	6264	SO:0001819	synonymous_variant	92949	0	0					g.chr9:18777494C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3267C>T	chr9.hg19:g.18777494C>T		0						p.P1089P	NM_001040272.5	NP_001035362.3	0	0	0	1.928190	Q8N6G6	ATL1_HUMAN		19	3606	+			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	1	1	hg19	c.3267C>T	CCDS47954.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-19.980170	1	0.170000				11	11		42	42	1		1	0		0	0	11	0		9.989352e-01	5.363384e-01	0	0	0	8	0	11	42
ADAMTSL1	92949	broad.mit.edu	37	9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1556	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTGGTCTGCCTGTACCCG	0.602																																						ENST00000380548.4	1.000000	0.830000	1	9.900000e-01	0.990000	0.988987	0.990000	1.000000																										0				42						c.(4666-4668)Gcc>Acc		ADAMTS-like 1							29.0	31.0	30.0					9																	18892409		1922	4119	6041	SO:0001583	missense	92949	0	0					g.chr9:18892409G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4666G>A	chr9.hg19:g.18892409G>A	ENSP00000369921:p.Ala1556Thr	0					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	p.A1556T	NM_001040272.5	NP_001035362.3	0	0	0	1.928190	Q8N6G6	ATL1_HUMAN		26	5005	+			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	0	1	hg19	c.4666G>A	CCDS47954.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834813	0.32421	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.55052	0.54;0.54	5.45	4.48	0.54585	5.45	4.48	0.54585	.	0.467261	0.21883	N	0.067719	T	0.32376	0.0827	N	0.13235	0.315	0.27451	N	0.953432	B;B	0.29212	0.137;0.237	B;B	0.30943	0.058;0.122	T	0.12091	-1.0561	10	0.33141	T	0.24	.	7.4575	0.27274	0.0:0.1348:0.4922:0.373	.	257;1556	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1556;257;260	ENSP00000369921:A1556T;ENSP00000369918:A257T	ENSP00000325584:A260T	A	+	1	0	0	ADAMTSL1	18882409	18882409	0.019000	0.18553	0.967000	0.41034	0.998000	0.95712	1.680000	0.37607	2.560000	0.86352	0.555000	0.69702	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-19.999130	1	0.170000				14	14		90	89	1		1	0		0	0	17	0		9.998131e-01	5.582707e-02	0	0	0	3	0	14	90
FAM154A	158297	broad.mit.edu	37	9	18928781	18928781	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18928781T>G	ENST00000380534.4	-	4	973	c.694A>C	c.(694-696)Atc>Ctc	p.I232L	FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	232										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)		TCAAAGGGGATTTCACAGGGC	0.542																																						ENST00000380534.4	0.530000	0.170000	4.300000e-01	2.300000e-01	0.320000	0.339067	0.320000	0.320000																										0				26						c.(694-696)Atc>Ctc		family with sequence similarity 154, member A							88.0	92.0	91.0					9																	18928781		2203	4300	6503	SO:0001583	missense	158297	0	0					g.chr9:18928781T>G	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.694A>C	chr9.hg19:g.18928781T>G	ENSP00000369907:p.Ile232Leu	0					FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	p.I232L	NM_153707.2	NP_714918.2	0	0	0	1.928190	Q8IYX7	F154A_HUMAN		4	973	-			Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	0	1	hg19	c.694A>C	CCDS6487.1	0	.	.	.	.	.	.	.	.	.	.	T	5.696	0.313041	0.10789	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.15017	2.46;2.46	5.09	2.75	0.32379	5.09	2.75	0.32379	.	0.105301	0.42682	D	0.000674	T	0.12987	0.0315	M	0.63428	1.95	0.24741	N	0.993039	B	0.31153	0.31	B	0.30105	0.111	T	0.27739	-1.0065	10	0.08381	T	0.77	-11.714	4.3515	0.11158	0.0:0.254:0.163:0.583	.	232	Q8IYX7	F154A_HUMAN	L	232;40	ENSP00000369907:I232L;ENSP00000438823:I40L	ENSP00000369907:I232L	I	-	1	0	0	FAM154A	18918781	18918781	0.000000	0.05858	0.978000	0.43139	0.912000	0.54170	-0.297000	0.08276	0.408000	0.25621	-0.256000	0.11100	ATC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	0	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-10.818220	1	0.170000	NM_153707			11	11		383	374	0		1			0	0	79	0		9.981649e-01	0	0	0	0	0	0	11	383
RRAGA	10670	broad.mit.edu	37	9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						TCTCCTGACGCCAAAATCTTC	0.502																																						ENST00000380527.1	1.000000	0.430000	9.600000e-01	5.700000e-01	0.750000	0.759566	0.750000	1.000000																										0				3						c.(358-360)gCc>gTc		Ras-related GTP binding A							72.0	70.0	71.0					9																	19050016		2203	4300	6503	SO:0001583	missense	10670	0	0					g.chr9:19050016C>T	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.359C>T	chr9.hg19:g.19050016C>T	ENSP00000369899:p.Ala120Val	0						p.A120V	NM_006570.4	NP_006561.1	0	0	0	1.928190				1	645	+				Missense_Mutation	SNP	ENST00000380527.1	1	1	hg19	c.359C>T	CCDS6488.1	0	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479382	0.84747	.	.	ENSG00000155876	ENST00000380527	T	0.67523	-0.27	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.80141	-0.1506	10	0.44086	T	0.13	-10.7655	16.1608	0.81704	0.0:1.0:0.0:0.0	.	120	Q7L523	RRAGA_HUMAN	V	120	ENSP00000369899:A120V	ENSP00000369899:A120V	A	+	2	0	0	RRAGA	19040016	19040016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.320000	0.79064	2.770000	0.95276	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-17.949600	1	0.170000	NM_006570			14	13		198	191	0		1	1		0	0	46	0		9.997180e-01	9.999994e-01	0	32	0	388	0	14	198
HAUS6	54801	broad.mit.edu	37	9	19089409	19089409	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		Y_RNA_ENST00000364248.1_RNA|HAUS6_ENST00000380496.1_Splice_Site	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						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)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348																																						ENST00000380502.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999113	0.990000	1.000000																										0				27						c.e5+1		HAUS augmin-like complex, subunit 6							88.0	87.0	87.0					9																	19089409		2202	4300	6502	SO:0001630	splice_region_variant	54801	1	121408	21				g.chr9:19089409C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.584+1G>T	chr9.hg19:g.19089409C>A		0					HAUS6_ENST00000380496.1_Splice_Site|Y_RNA_ENST00000364248.1_RNA		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	0	0	0	1.928190	Q7Z4H7	HAUS6_HUMAN		5	1052	-			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Splice_Site	SNP	ENST00000380502.3	1	1	hg19		CCDS6489.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813639	0.50527	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.15	5.15	0.70609	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1537	0.81640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	HAUS6	19079409	19079409	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.783000	0.62403	2.406000	0.81754	0.557000	0.71058	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_017645	Intron		28	28		170	169	1		1			0	0	22	0		1	0	0	0	0	0	0	28	170
DENND4C	55667	broad.mit.edu	37	9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000380432.2	+	18	2657	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875					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)			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						CCTGATAGTAGGACTTGTATG	0.448																																						ENST00000380432.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(2623-2625)aGg>aTg		DENN/MADD domain containing 4C							160.0	146.0	151.0					9																	19346246		2203	4300	6503	SO:0001583	missense	55667	0	0					g.chr9:19346246G>T	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.2624G>T	chr9.hg19:g.19346246G>T	ENSP00000369797:p.Arg875Met	0					DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M	p.R875M			0	0	0	1.928190	Q5VZ89	DEN4C_HUMAN		18	2657	+			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	1	1	hg19	c.2624G>T		1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090810	0.36855	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.81	5.29	4.37	0.52481	5.29	4.37	0.52481	.	0.992377	0.08205	N	0.981578	T	0.40546	0.1121	L	0.47716	1.5	0.35036	D	0.759271	D;D;D;D	0.76494	0.996;0.986;0.999;0.976	P;P;P;P	0.60682	0.878;0.855;0.843;0.72	T	0.30563	-0.9974	10	0.49607	T	0.09	-17.6969	10.094	0.42464	0.0732:0.1359:0.7909:0.0	.	205;875;57;875	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	875;348;57;205;348;57	ENSP00000305795:R348M;ENSP00000443804:R205M	ENSP00000305795:R348M	R	+	2	0	0	DENND4C	19336246	19336246	0.998000	0.40836	0.949000	0.38748	0.041000	0.13682	2.918000	0.48829	2.741000	0.93983	0.650000	0.86243	AGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	138		138	136	1	2.060000	-2.885372	1	0.170000	NM_017925			126	122		524	513	1		1	1		0	0	138	0		1	9.999944e-01	0	17	0	56	0	126	524
RPS6	6194	broad.mit.edu	37	9	19378800	19378800	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000380381.3_3'UTR|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000498815.1_5'Flank	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	85					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478																																						ENST00000380394.4	1.000000	0.830000	1	9.900000e-01	0.990000	0.987985	0.990000	1.000000																										0				7						c.(253-255)agA>agG		ribosomal protein S6							40.0	38.0	39.0					9																	19378800		2203	4300	6503	SO:0001819	synonymous_variant	6194	0	0					g.chr9:19378800T>C		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.255A>G	chr9.hg19:g.19378800T>C		0					RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Silent_p.R54R|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000380381.3_3'UTR	p.R85R	NM_001010.2	NP_001001.2	0	0	0	1.928190	P62753	RS6_HUMAN		3	313	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	1	1	hg19	c.255A>G	CCDS6492.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_001010			22	22		170	166	0		1	1		0	0	55	0		9.999989e-01	1	0	2186	0	5340	0	22	170
SLC24A2	25769	broad.mit.edu	37	9	19786640	19786640	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	75					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453																																						ENST00000341998.2	0.800000	0.360000	6.800000e-01	4.500000e-01	0.560000	0.574181	0.560000	0.550000																										0				33						c.(223-225)ggC>ggT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							96.0	99.0	98.0					9																	19786640		2203	4300	6503	SO:0001819	synonymous_variant	25769	0	0					g.chr9:19786640G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.225C>T	chr9.hg19:g.19786640G>A		0					SLC24A2_ENST00000286344.3_Silent_p.G75G	p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	0	0	0	1.928190	Q9UI40	NCKX2_HUMAN		1	286	-			B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	1	1	hg19	c.225C>T	CCDS6493.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-3.314542	1	0.170000	NM_020344			22	22		425	424	0		1	0		0	0	92	0		9.999988e-01	2.731997e-03	0	0	0	2	0	22	425
IFNA10	3446	broad.mit.edu	37	9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	158					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)			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)		GGGCTGTATTTCCTCTCTATT	0.443																																						ENST00000357374.2	0.580000	0.370000	5.300000e-01	4.100000e-01	0.460000	0.476928	0.460000	0.470000																										0				16						c.(472-474)Aaa>Gaa		interferon, alpha 10							275.0	279.0	277.0					9																	21206625		2203	4300	6503	SO:0001583	missense	3446	0	0					g.chr9:21206625T>C		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.472A>G	chr9.hg19:g.21206625T>C	ENSP00000369566:p.Lys158Glu	0						p.K158E	NM_002171.1	NP_002162.1	0	0	0	1.928190	P01566	IFN10_HUMAN		1	517	-			Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	1	1	hg19	c.472A>G	CCDS6499.1	0	.	.	.	.	.	.	.	.	.	.	-	11.46	1.644157	0.29246	.	.	ENSG00000186803	ENST00000357374	T	0.05447	3.44	3.75	-0.534	0.11883	3.75	-0.534	0.11883	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.731033	0.13799	N	0.361970	T	0.06280	0.0162	L	0.45581	1.43	0.09310	N	0.999998	B	0.14805	0.011	B	0.26770	0.073	T	0.37911	-0.9685	10	0.32370	T	0.25	.	6.4822	0.22069	0.0:0.5697:0.0:0.4303	.	158	P01566	IFN10_HUMAN	E	158	ENSP00000369566:K158E	ENSP00000369566:K158E	K	-	1	0	0	IFNA10	21196625	21196625	0.000000	0.05858	0.015000	0.15790	0.414000	0.31173	-0.713000	0.05007	0.044000	0.15775	0.409000	0.27619	AAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	1	0	1		2	2	2	0		0	0	425		425	427	1	2.060000	-5.952194	1	0.170000	NM_002171			80	76		1842	1806	0		1			0	0	425	0		1	0	0	0	0	0	0	80	1842
IFNA16	3449	broad.mit.edu	37	9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	31					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)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507																																						ENST00000380216.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(91-93)aGc>aAc		interferon, alpha 16							93.0	94.0	94.0					9																	21217213		2203	4300	6503	SO:0001583	missense	3449	0	0					g.chr9:21217213C>T		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.92G>A	chr9.hg19:g.21217213C>T	ENSP00000369564:p.Ser31Asn	0						p.S31N	NM_002173.2	NP_002164.1	0	0	0	1.928190	P05015	IFN16_HUMAN		1	97	-			Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	1	1	hg19	c.92G>A	CCDS34996.1	1	.	.	.	.	.	.	.	.	.	.	-	2.568	-0.300385	0.05532	.	.	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	1.67	0.24075	2.62	1.67	0.24075	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.801600	0.11407	N	0.567150	T	0.02888	0.0086	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.47381	-0.9122	10	0.24483	T	0.36	.	4.4801	0.11762	0.0:0.6507:0.0:0.3493	.	31	P05015	IFN16_HUMAN	N	31	ENSP00000369564:S31N	ENSP00000369564:S31N	S	-	2	0	0	IFNA16	21207213	21207213	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-2.500000	0.00967	0.401000	0.25424	0.184000	0.17185	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	1	0	1		2	2	2	0		0	0	172		172	172	1	2.060000	-20.000000	1	0.170000	NM_002173			97	96		530	512	1		1			0	0	172	0		1	0	0	0	0	0	0	97	530
KLHL9	55958	broad.mit.edu	37	9	21333707	21333707	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	384					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				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)		TTTCATTTAATGATGCAACCT	0.413																																						ENST00000359039.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1150-1152)tcA>tcC		kelch-like family member 9							82.0	78.0	79.0					9																	21333707		2203	4300	6503	SO:0001819	synonymous_variant	55958	0	0					g.chr9:21333707T>G	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.1152A>C	chr9.hg19:g.21333707T>G		0					KLHL9_ENST00000537938.1_Silent_p.S316S	p.S384S			0	0	0	1.928190	Q9P2J3	KLHL9_HUMAN		1	1672	-			Q8TCQ2	Silent	SNP	ENST00000359039.4	1	1	hg19	c.1152A>C	CCDS6503.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_018847			70	69		334	332	1		1	1		0	0	68	0		1	9.999986e-01	0	20	0	75	0	70	334
KLHL9	55958	broad.mit.edu	37	9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	257					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				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)		ATGAAATCTACTGTCTGCACG	0.413																																						ENST00000359039.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(769-771)Gta>Ata		kelch-like family member 9							135.0	125.0	128.0					9																	21334090		2203	4300	6503	SO:0001583	missense	55958	0	0					g.chr9:21334090C>T	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.769G>A	chr9.hg19:g.21334090C>T	ENSP00000351933:p.Val257Ile	0					KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I	p.V257I			0	0	0	1.928190	Q9P2J3	KLHL9_HUMAN		1	1289	-			Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	1	1	hg19	c.769G>A	CCDS6503.1	1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476530	0.63737	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70986	-0.5;-0.53	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.83825	0.0249	10	0.39692	T	0.17	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	257	Q9P2J3	KLHL9_HUMAN	I	257;189	ENSP00000351933:V257I;ENSP00000437733:V189I	ENSP00000351933:V257I	V	-	1	0	0	KLHL9	21324090	21324090	1.000000	0.71417	0.918000	0.36340	0.907000	0.53573	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	GTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_018847			95	93		393	385	1		1	1		0	0	104	0		1	9.999993e-01	0	18	0	68	0	95	393
ELAVL2	1993	broad.mit.edu	37	9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	316	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		AAAACCTTTGCATTTATTGGT	0.478																																						ENST00000397312.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(946-948)tGc>tAc		ELAV like neuron-specific RNA binding protein 2							136.0	116.0	123.0					9																	23692688		2203	4300	6503	SO:0001583	missense	1993	1	121410	28				g.chr9:23692688C>T	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.947G>A	chr9.hg19:g.23692688C>T	ENSP00000380479:p.Cys316Tyr	0					ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y	p.C316Y	NM_004432.3	NP_004423.2	0	0	0	1.928190	Q12926	ELAV2_HUMAN		7	1221	-			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	1	1	hg19	c.947G>A	CCDS6515.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858770	0.51376	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.94	5.94	0.96194	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	316;303	Q12926;Q12926-2	ELAV2_HUMAN;.	Y	303;316;316;303;316;344	ENSP00000223951:C303Y;ENSP00000380479:C316Y;ENSP00000440998:C316Y;ENSP00000369460:C316Y	ENSP00000223951:C303Y	C	-	2	0	0	ELAVL2	23682688	23682688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	TGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	1	0	1		17	2	2	0		0	1	103		103	102	1	2.060000	-20.000000	1	0.170000	NM_004432			81	78		422	409	1		1	0		0	0	103	0		1	0	0	0	0	1	0	81	422
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R236G(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)		TACCTAAAACGCTGTGCCTGC	0.458																																						ENST00000397312.2	0.590000	0.310000	5.200000e-01	3.700000e-01	0.440000	0.450719	0.440000	0.440000																										1	Substitution - Missense(1)	p.R236G(1)	lung(1)	39						c.(706-708)Cgt>Tgt		ELAV like neuron-specific RNA binding protein 2							256.0	249.0	251.0					9																	23701384		2203	4300	6503	SO:0001583	missense	1993	1	121412	39				g.chr9:23701384G>A	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.706C>T	chr9.hg19:g.23701384G>A	ENSP00000380479:p.Arg236Cys	0					ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C	p.R236C	NM_004432.3	NP_004423.2	0	0	0	1.928190	Q12926	ELAV2_HUMAN		5	980	-			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	1	1	hg19	c.706C>T	CCDS6515.1	0	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225405	0.58668	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16073	2.37;2.8;2.8;2.8	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.84948	2.725	0.80722	D	1	B;D	0.76494	0.263;0.999	B;D	0.66497	0.05;0.944	T	0.46978	-0.9152	10	0.54805	T	0.06	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	C	236;236;236;236;236;264	ENSP00000223951:R236C;ENSP00000380479:R236C;ENSP00000440998:R236C;ENSP00000369460:R236C	ENSP00000223951:R236C	R	-	1	0	0	ELAVL2	23691384	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	0	0	1		2	2	2	0		0	0	209		209	209	1	2.060000	-3.817550	1	0.170000	NM_004432			37	37		913	898	0		1			0	0	209	0		1	0	0	0	0	0	0	37	913
ELAVL2	1993	broad.mit.edu	37	9	23705055	23705055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000380110.4_Silent_p.R145R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000223951.6_Silent_p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	116	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		CTGAACTTGGGCGAGCATAGG	0.398																																						ENST00000397312.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(346-348)cgC>cgT		ELAV like neuron-specific RNA binding protein 2							90.0	90.0	90.0					9																	23705055		2203	4300	6503	SO:0001819	synonymous_variant	1993	0	0					g.chr9:23705055G>A	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.348C>T	chr9.hg19:g.23705055G>A		0					ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R	p.R116R	NM_004432.3	NP_004423.2	0	0	0	1.928190	Q12926	ELAV2_HUMAN		4	622	-			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	1	1	hg19	c.348C>T	CCDS6515.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_004432			86	85		346	344	1		1	0		0	0	77	0		1	0	0	1	0	0	0	86	346
PLAA	9373	broad.mit.edu	37	9	26905793	26905793	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	702	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(2104-2106)Ctg>Ttg		phospholipase A2-activating protein							125.0	115.0	118.0					9																	26905793		2203	4300	6503	SO:0001819	synonymous_variant	9373	0	0					g.chr9:26905793G>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2104C>T	chr9.hg19:g.26905793G>A		0						p.L702L	NM_001031689.2	NP_001026859.1	0	0	0	1.928190	Q9Y263	PLAP_HUMAN		14	2521	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	1	1	hg19	c.2104C>T	CCDS35000.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.646672	1	0.170000	NM_001031689			51	48		196	196	1		1	1		0	0	50	0		1	9.999999e-01	0	32	0	69	0	51	196
PLAA	9373	broad.mit.edu	37	9	26910348	26910348	+	Missense_Mutation	SNP	T	T	C	rs533908233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26910348T>C	ENST00000397292.3	-	12	2062	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A	PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	549	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATATTTGTGTAGGGTTTGCT	0.343																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3	0.490000	0.120000	3.800000e-01	1.900000e-01	0.270000	0.293722	0.270000	0.260000																										0				17						c.(1645-1647)Aca>Gca		phospholipase A2-activating protein							90.0	90.0	90.0					9																	26910348		2202	4299	6501	SO:0001583	missense	9373	0	0					g.chr9:26910348T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1645A>G	chr9.hg19:g.26910348T>C	ENSP00000380460:p.Thr549Ala	0					PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	p.T549A	NM_001031689.2	NP_001026859.1	0	0	0	1.928190	Q9Y263	PLAP_HUMAN		12	2062	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	0	1	hg19	c.1645A>G	CCDS35000.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.81|10.81	1.454264|1.454264	0.26161|0.26161	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54866|.	0.55;0.72|.	5.51|5.51	4.38|4.38	0.52667|0.52667	5.51|5.51	4.38|4.38	0.52667|0.52667	PUL (2);|.	0.117369|.	0.64402|.	D|.	0.000007|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.20685|0.20685	0.6|0.6	0.40317|0.40317	D|D	0.978782|0.978782	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.15052|.	0.012;0.003|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.10111|.	T|.	0.7|.	-12.9958|-12.9958	6.1636|6.1636	0.20378|0.20378	0.1435:0.0753:0.0:0.7813|0.1435:0.0753:0.0:0.7813	.|.	549;549|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	A|C	549|221;75	ENSP00000380460:T549A;ENSP00000429372:T549A|.	ENSP00000380460:T549A|.	T|Y	-|-	1|2	0|0	0|0	PLAA|PLAA	26900348|26900348	26900348|26900348	0.922000|0.922000	0.31269|0.31269	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.034000|1.034000	0.30204|0.30204	2.085000|2.085000	0.62840|0.62840	0.528000|0.528000	0.53228|0.53228	ACA|TAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	0	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.476103	1	0.170000	NM_001031689			8	8		332	330	0		1	1		0	0	59	0		9.893246e-01	7.203971e-01	0	2	0	102	0	8	332
IFT74	80173	broad.mit.edu	37	9	26978214	26978214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26978214G>A	ENST00000443698.1	+	3	380	c.209G>A	c.(208-210)cGc>cAc	p.R70H	IFT74_ENST00000429045.2_Missense_Mutation_p.R70H|IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	70	Basic region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTTGCCCATCGCCCTGTAACA	0.438																																						ENST00000443698.1	0.730000	0.230000	5.900000e-01	3.300000e-01	0.440000	0.466595	0.440000	0.430000																										0				6						c.(208-210)cGc>cAc		intraflagellar transport 74							95.0	89.0	91.0					9																	26978214		1884	4117	6001	SO:0001583	missense	80173	0	0					g.chr9:26978214G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.209G>A	chr9.hg19:g.26978214G>A	ENSP00000404122:p.Arg70His	0					IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000429045.2_Missense_Mutation_p.R70H	p.R70H	NM_001099222.1	NP_001092692.1	0	0	0	1.928190	Q96LB3	IFT74_HUMAN		3	380	+		all_neural(11;2.36e-10)	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	1	1	hg19	c.209G>A	CCDS43793.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.427459	0.96131	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045;ENST00000517866	T;T;T;T;T;T;T;T	0.55760	0.5;1.25;0.75;1.25;1.25;0.5;0.5;0.5	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80115	-0.1517	10	0.87932	D	0	-8.4313	20.0155	0.97477	0.0:0.0:1.0:0.0	.	70;70	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	H	70;70;70;70;70;70;70;70;32	ENSP00000430004:R70H;ENSP00000389224:R70H;ENSP00000430096:R70H;ENSP00000404122:R70H;ENSP00000369402:R70H;ENSP00000430526:R70H;ENSP00000393907:R70H;ENSP00000430742:R32H	ENSP00000369402:R70H	R	+	2	0	0	IFT74	26968214	26968214	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.314000	0.96306	2.742000	0.94016	0.591000	0.81541	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	0	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-3.142702	1	0.170000	NM_025103			11	11		273	270	0		1	1		0	0	63	0		9.983258e-01	6.035354e-01	0	4	0	46	0	11	273
TEK	7010	broad.mit.edu	37	9	27190608	27190608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27190608A>G	ENST00000380036.4	+	10	1851	c.1409A>G	c.(1408-1410)tAc>tGc	p.Y470C	TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	470	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGAGCCTTACTTTGGGGAT	0.423																																						ENST00000380036.4	0.400000	0.140000	3.300000e-01	1.900000e-01	0.250000	0.265052	0.250000	0.250000																										0				15						c.(1408-1410)tAc>tGc		TEK tyrosine kinase, endothelial	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)						165.0	157.0	160.0					9																	27190608		2203	4300	6503	SO:0001583	missense	7010	0	0					g.chr9:27190608A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1409A>G	chr9.hg19:g.27190608A>G	ENSP00000369375:p.Tyr470Cys	0					TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	p.Y470C	NM_000459.3	NP_000450	0	0	0	1.928190	Q02763	TIE2_HUMAN		10	1851	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	0	1	hg19	c.1409A>G	CCDS6519.1	0	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160147	0.57368	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.73	3.33	0.38152	5.73	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349499	0.20629	N	0.088626	T	0.62109	0.2401	L	0.52573	1.65	0.41980	D	0.990798	P;D;P;D	0.64830	0.938;0.994;0.808;0.975	P;D;P;P	0.64237	0.65;0.923;0.526;0.733	T	0.61048	-0.7141	10	0.66056	D	0.02	.	10.1788	0.42955	0.735:0.0:0.0:0.265	.	323;503;427;470	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	323;470;427;427;280	ENSP00000430686:Y323C;ENSP00000369375:Y470C;ENSP00000383977:Y427C;ENSP00000428337:Y280C	ENSP00000343716:Y427C	Y	+	2	0	0	TEK	27180608	27180608	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.992000	0.56980	0.415000	0.25817	-0.403000	0.06358	TAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3	0	0	1		2	2	2	0		0	0	161		161	161	1	2.060000	-3.385211	1	0.170000				14	13		621	606	0		1	0		0	0	161	0		9.997081e-01	1.039226e-01	0	0	0	23	0	14	621
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000380036.4	+	12	2238	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	599	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACTTGACTTCGGTGCTACTT	0.463																																						ENST00000380036.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1795-1797)tCg>tTg		TEK tyrosine kinase, endothelial	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)						103.0	92.0	96.0					9																	27197484		2203	4300	6503	SO:0001583	missense	7010	2	121410	33				g.chr9:27197484C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1796C>T	chr9.hg19:g.27197484C>T	ENSP00000369375:p.Ser599Leu	0					TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L|RNA5SP280_ENST00000411230.1_RNA	p.S599L	NM_000459.3	NP_000450	0	0	0	1.928190	Q02763	TIE2_HUMAN		12	2238	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	1	1	hg19	c.1796C>T	CCDS6519.1	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381519	0.42207	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.54	3.52	0.40303	5.54	3.52	0.40303	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168921	0.28420	N	0.015417	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34313	0.448;0.008;0.197;0.013	B;B;B;B	0.25759	0.063;0.005;0.027;0.005	T	0.30995	-0.9959	10	0.48119	T	0.1	.	10.2421	0.43319	0.0:0.6052:0.3212:0.0736	.	452;632;556;599	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	452;599;556;409	ENSP00000430686:S452L;ENSP00000369375:S599L;ENSP00000383977:S556L;ENSP00000428337:S409L	ENSP00000369375:S599L	S	+	2	0	0	TEK	27187484	27187484	0.037000	0.19845	0.818000	0.32626	0.966000	0.64601	1.174000	0.31932	2.619000	0.88677	0.655000	0.94253	TCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3	1	0	1		2	2	2	0		0	0	120		120	117	1	2.060000	-3.258267	1	0.170000				82	81		390	380	1		1	0		0	0	120	0		1	9.775393e-01	0	0	0	31	0	82	390
IFNK	56832	broad.mit.edu	37	9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A	rs575580082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	187					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)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398																																						ENST00000276943.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998372	0.990000	1.000000																										0				1						c.(559-561)cGa>cAa		interferon, kappa							41.0	43.0	42.0					9																	27524894		2203	4300	6503	SO:0001583	missense	56832	0	0					g.chr9:27524894G>A	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.560G>A	chr9.hg19:g.27524894G>A	ENSP00000276943:p.Arg187Gln	0					MOB3B_ENST00000262244.5_Intron	p.R187Q	NM_020124.2	NP_064509.2	0	0	0	1.928190	Q9P0W0	IFNK_HUMAN		1	583	+		all_neural(11;7.9e-11)	Q5T166	Missense_Mutation	SNP	ENST00000276943.2	1	1	hg19	c.560G>A	CCDS6521.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706313	0.30232	.	.	ENSG00000147896	ENST00000276943	T	0.05447	3.44	6.16	-12.0	0.00017	6.16	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.872417	0.09714	N	0.765332	T	0.04227	0.0117	M	0.74546	2.27	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.00204	-1.1923	10	0.72032	D	0.01	-13.632	1.707	0.02884	0.258:0.1477:0.1175:0.4768	.	187	Q9P0W0	IFNK_HUMAN	Q	187	ENSP00000276943:R187Q	ENSP00000276943:R187Q	R	+	2	0	0	IFNK	27514894	27514894	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-1.383000	0.02544	-2.553000	0.00478	-0.355000	0.07637	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-3.080141	1	0.170000	NM_020124			27	27		173	167	1		1			0	0	45	0		1	0	0	0	0	0	0	27	173
LINGO2	158038	broad.mit.edu	37	9	27950337	27950337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral component of membrane (GO:0016021)				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)		TGCCTTTTAGGCGGAGGGAAC	0.438																																						ENST00000379992.2	0.580000	0.260000	5.000000e-01	3.300000e-01	0.400000	0.420155	0.400000	0.400000																										0				44						c.(331-333)cgC>cgT		leucine rich repeat and Ig domain containing 2							143.0	142.0	143.0					9																	27950337		2203	4300	6503	SO:0001819	synonymous_variant	158038	0	0					g.chr9:27950337G>A	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.333C>T	chr9.hg19:g.27950337G>A		0					LINGO2_ENST00000308675.3_Silent_p.R111R	p.R111R	NM_152570.2	NP_689783.1	0	0	0	1.928190	Q7L985	LIGO2_HUMAN		6	782	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	1	1	hg19	c.333C>T	CCDS6524.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	0	0	1		20	2	2	0		0	1	108		108	107	1	2.060000	-4.010932	1	0.170000	NM_152570			23	23		618	609	0		1	0		0	0	108	0		7.147170e-01	0	0	0	0	1	0	23	618
ACO1	48	broad.mit.edu	37	9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000379923.1_Missense_Mutation_p.G215D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	215					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGGCTTGGGCATTCTTGGT	0.418																																						ENST00000309951.6	0.430000	0.170000	3.600000e-01	2.200000e-01	0.280000	0.297059	0.280000	0.280000																										0				30						c.(643-645)gGc>gAc		aconitase 1, soluble							177.0	162.0	167.0					9																	32418495		2203	4300	6503	SO:0001583	missense	48	1	121412	39				g.chr9:32418495G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.644G>A	chr9.hg19:g.32418495G>A	ENSP00000309477:p.Gly215Asp	0					ACO1_ENST00000379923.1_Missense_Mutation_p.G215D|ACO1_ENST00000541043.1_Missense_Mutation_p.G116D	p.G215D	NM_002197.2	NP_002188.1	0	0	0	1.928190	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	6	782	+			D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	1	1	hg19	c.644G>A	CCDS6525.1	0	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966788	0.92855	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93025	0.6443	10	0.87932	D	0	-2.4516	18.8212	0.92097	0.0:0.0:1.0:0.0	.	251;215	Q59FI0;P21399	.;ACOC_HUMAN	D	251;215;215;215;116	ENSP00000309477:G215D;ENSP00000369255:G215D;ENSP00000438733:G116D	ENSP00000309477:G215D	G	+	2	0	0	ACO1	32408495	32408495	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	9.808000	0.99193	2.753000	0.94483	0.557000	0.71058	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	0	0	1		2	2	2	0		0	0	167		167	166	1	2.060000	-2.723977	1	0.170000	NM_002197			19	19		738	723	0		1	1		0	0	167	0		9.999885e-01	8.981823e-01	0	12	0	143	0	19	738
DDX58	23586	broad.mit.edu	37	9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379883.2	-	8	1191	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	345	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			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)		TGGAGTTAAAATGATGATGTC	0.383																																						ENST00000379883.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1033-1035)aTt>aCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							168.0	159.0	162.0					9																	32488121		2203	4300	6503	SO:0001583	missense	23586	0	0					g.chr9:32488121A>G	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.1034T>C	chr9.hg19:g.32488121A>G	ENSP00000369213:p.Ile345Thr	0					DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T	p.I345T	NM_014314.3	NP_055129.2	0	0	0	1.928190	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	8	1191	-			A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	1	1	hg19	c.1034T>C	CCDS6526.1	1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367771	0.61513	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.57	4.57	0.56435	4.57	4.57	0.56435	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.669254	0.13343	N	0.395009	T	0.56247	0.1972	M	0.65320	2	0.35448	D	0.795485	P;P;P;P	0.48998	0.918;0.542;0.814;0.889	P;B;P;P	0.55545	0.519;0.277;0.778;0.726	T	0.65788	-0.6083	10	0.59425	D	0.04	-1.9774	13.2283	0.59927	1.0:0.0:0.0:0.0	.	142;300;274;345	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	T	300;345;142;274;142	ENSP00000369212:I300T;ENSP00000369213:I345T;ENSP00000369197:I142T;ENSP00000442160:I274T;ENSP00000443055:I142T	ENSP00000369197:I142T	I	-	2	0	0	DDX58	32478121	32478121	0.997000	0.39634	0.986000	0.45419	0.910000	0.53928	6.586000	0.74067	1.846000	0.53633	0.374000	0.22700	ATT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	1	0	1		2	2	2	0		0	0	80		80	78	1	2.060000	-20.000000	1	0.170000	NM_014314			98	95		328	325	1		1	1		0	0	80	0		1	1	0	63	0	84	0	98	328
TOPORS	10210	broad.mit.edu	37	9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1014					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)			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)		AGACACAATGTTACTGGGCTG	0.423																																						ENST00000360538.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(3040-3042)aAc>aCc		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							125.0	122.0	123.0					9																	32541482		2203	4300	6503	SO:0001583	missense	10210	0	0					g.chr9:32541482T>G	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.3041A>C	chr9.hg19:g.32541482T>G	ENSP00000353735:p.Asn1014Thr	0					TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	p.N1014T	NM_005802.4	NP_005793.2	0	0	0	1.928190	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	3	3157	-			O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	1	1	hg19	c.3041A>C	CCDS6527.1	1	.	.	.	.	.	.	.	.	.	.	T	4.083	0.013251	0.07912	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.27;2.29	5.61	3.25	0.37280	5.61	3.25	0.37280	.	0.126503	0.36134	N	0.002769	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.33196	0.159	T	0.22730	-1.0208	10	0.41790	T	0.15	-16.2427	4.8212	0.13392	0.0:0.1625:0.1604:0.6771	.	1014	Q9NS56	TOPRS_HUMAN	T	1014;949	ENSP00000353735:N1014T;ENSP00000369187:N949T	ENSP00000353735:N1014T	N	-	2	0	0	TOPORS	32531482	32531482	0.001000	0.12720	0.125000	0.21846	0.053000	0.15095	0.768000	0.26590	0.488000	0.27723	0.528000	0.53228	AAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_005802			93	92		379	376	1		1	1		0	0	94	0		1	1	0	28	0	74	0	93	379
TOPORS	10210	broad.mit.edu	37	9	32542990	32542990	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				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)			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)		TCTTCACTGTCTCCATTTTCT	0.433																																						ENST00000360538.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				12						c.(1531-1533)gaG>gaA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							99.0	84.0	89.0					9																	32542990		2203	4300	6503	SO:0001819	synonymous_variant	10210	0	0					g.chr9:32542990C>T	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.1533G>A	chr9.hg19:g.32542990C>T		0					TOPORS_ENST00000379858.1_Silent_p.E446E	p.E511E	NM_005802.4	NP_005793.2	0	0	0	1.928190	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	3	1649	-			O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	1	1	hg19	c.1533G>A	CCDS6527.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-20.000000	1	0.170000	NM_005802			52	50		335	327	1		1	1		0	0	83	0		1	9.962946e-01	0	14	0	43	0	52	335
TOPORS	10210	broad.mit.edu	37	9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	312	Required for DNA-binding.				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)			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)		CACTAAAGATCCATGAGCTCC	0.378																																						ENST00000360538.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				12						c.(934-936)gGa>gTa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							56.0	54.0	54.0					9																	32543588		2203	4300	6503	SO:0001583	missense	10210	0	0					g.chr9:32543588C>A	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.935G>T	chr9.hg19:g.32543588C>A	ENSP00000353735:p.Gly312Val	0					TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	p.G312V	NM_005802.4	NP_005793.2	0	0	0	1.928190	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	3	1051	-			O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	1	1	hg19	c.935G>T	CCDS6527.1	1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127595	0.37533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17691	2.26;2.27	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000133	T	0.43787	0.1263	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15578	-1.0432	10	0.72032	D	0.01	-38.8045	19.1082	0.93305	0.0:1.0:0.0:0.0	.	312	Q9NS56	TOPRS_HUMAN	V	312;247	ENSP00000353735:G312V;ENSP00000369187:G247V	ENSP00000353735:G312V	G	-	2	0	0	TOPORS	32533588	32533588	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	4.654000	0.61469	2.805000	0.96524	0.655000	0.94253	GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_005802			56	56		286	283	1		1	1		0	0	69	0		1	9.963105e-01	0	12	0	34	0	56	286
TOPORS	10210	broad.mit.edu	37	9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				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)			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)		ATCCAAGCATATAGGACACTT	0.393																																						ENST00000360538.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(313-315)aTa>aCa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							94.0	95.0	95.0					9																	32544209		2203	4300	6503	SO:0001583	missense	10210	0	0					g.chr9:32544209A>G	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.314T>C	chr9.hg19:g.32544209A>G	ENSP00000353735:p.Ile105Thr	0					TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	p.I105T	NM_005802.4	NP_005793.2	0	0	0	1.928190	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	3	430	-			O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	1	1	hg19	c.314T>C	CCDS6527.1	1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972680	0.53614	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.80653	-1.4;-1.4	5.6	4.47	0.54385	5.6	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000048	D	0.85596	0.5733	H	0.95043	3.615	0.53005	D	0.999962	B	0.15473	0.013	B	0.19391	0.025	D	0.83933	0.0307	10	0.87932	D	0	-22.7446	10.7379	0.46137	0.9242:0.0:0.0758:0.0	.	105	Q9NS56	TOPRS_HUMAN	T	105;40	ENSP00000353735:I105T;ENSP00000369187:I40T	ENSP00000353735:I105T	I	-	2	0	0	TOPORS	32534209	32534209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	1.076000	0.40961	0.533000	0.62120	ATA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_005802			87	85		412	404	1		1	1		0	0	91	0		1	9.914989e-01	0	9	0	28	0	87	412
TAF1L	138474	broad.mit.edu	37	9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L	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	982					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)			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)		TCACATAGGAGAATCCTTCAC	0.507																																						ENST00000242310.4	0.490000	0.200000	4.100000e-01	2.600000e-01	0.330000	0.344306	0.330000	0.330000																										0				159						c.(2944-2946)ttC>ttA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							200.0	183.0	189.0					9																	32632632		2203	4300	6503	SO:0001583	missense	138474	0	0					g.chr9:32632632G>T	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.2946C>A	chr9.hg19:g.32632632G>T	ENSP00000418379:p.Phe982Leu	0					RP11-555J4.4_ENST00000430787.1_RNA	p.F982L	NM_153809.2	NP_722516.1	0	0	0	1.928190	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	1	3035	-			Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	1	1	hg19	c.2946C>A	CCDS35003.1	0	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164757	0.78339	.	.	ENSG00000122728	ENST00000242310	T	0.15139	2.45	1.04	-1.05	0.10036	1.04	-1.05	0.10036	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.113396	0.64402	D	0.000003	T	0.41488	0.1161	M	0.94021	3.485	0.53688	D	0.999975	D	0.69078	0.997	D	0.70716	0.97	T	0.24476	-1.0159	10	0.87932	D	0	.	4.2663	0.10764	0.725:0.0:0.275:0.0	.	982	Q8IZX4	TAF1L_HUMAN	L	982	ENSP00000418379:F982L	ENSP00000418379:F982L	F	-	3	2	2	TAF1L	32622632	32622632	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	2.705000	0.47127	-0.347000	0.08299	0.195000	0.17529	TTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	0	0	1		2	2	2	0		0	0	170		170	169	1	2.060000	-3.528977	1	0.170000				20	19		665	655	0		1			0	0	170	0		9.999943e-01	0	0	0	0	0	0	20	665
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	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	533					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)			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)		TTCTCATCAGGAATTTCCAAA	0.483																																						ENST00000242310.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(1597-1599)Cct>Tct		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							136.0	134.0	135.0					9																	32633981		2203	4300	6503	SO:0001583	missense	138474	0	0					g.chr9:32633981G>A	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.1597C>T	chr9.hg19:g.32633981G>A	ENSP00000418379:p.Pro533Ser	0					RP11-555J4.4_ENST00000430787.1_RNA	p.P533S	NM_153809.2	NP_722516.1	0	0	0	1.928190	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	1	1686	-			Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	1	1	hg19	c.1597C>T	CCDS35003.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937368	0.73557	.	.	ENSG00000122728	ENST00000242310	T	0.09350	2.99	1.16	1.16	0.20824	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.76838	2.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.01771	-1.1277	10	0.66056	D	0.02	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	533	Q8IZX4	TAF1L_HUMAN	S	533	ENSP00000418379:P533S	ENSP00000418379:P533S	P	-	1	0	0	TAF1L	32623981	32623981	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	2.187000	0.42602	0.507000	0.28148	0.195000	0.17529	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	1	0	1		19	2	2	1		1	1	132		132	133	1	2.060000	-20.000000	1	0.170000				117	115		615	608	0		1			1	0	132	0		1	0	0	0	0	0	0	117	615
TAF1L	138474	broad.mit.edu	37	9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	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	481					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)			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)		GTACCAAGGTTTGTCATCATC	0.493																																						ENST00000242310.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(1441-1443)aAa>aGa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							193.0	167.0	176.0					9																	32634136		2203	4300	6503	SO:0001583	missense	138474	0	0					g.chr9:32634136T>C	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.1442A>G	chr9.hg19:g.32634136T>C	ENSP00000418379:p.Lys481Arg	0					RP11-555J4.4_ENST00000430787.1_RNA	p.K481R	NM_153809.2	NP_722516.1	0	0	0	1.928190	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	1	1531	-			Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	1	1	hg19	c.1442A>G	CCDS35003.1	1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224170	0.39300	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	0.479	0.479	0.16796	.	0.270402	0.37095	N	0.002249	T	0.04272	0.0118	N	0.19112	0.55	0.23232	N	0.998077	B	0.11235	0.004	B	0.10450	0.005	T	0.32561	-0.9902	10	0.48119	T	0.1	.	2.6827	0.05099	0.0:0.3869:0.0:0.6131	.	481	Q8IZX4	TAF1L_HUMAN	R	481	ENSP00000418379:K481R	ENSP00000418379:K481R	K	-	2	0	0	TAF1L	32624136	32624136	0.969000	0.33509	0.987000	0.45799	0.502000	0.33828	0.533000	0.23082	0.426000	0.26116	0.164000	0.16699	AAA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	1	0	1		2	2	2	0		0	0	145		145	144	1	2.060000	-20.000000	1	0.170000				123	118		520	512	0		1			0	0	145	0		1	0	0	0	0	0	0	123	520
TMEM215	401498	broad.mit.edu	37	9	32784835	32784835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478																																						ENST00000342743.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(652-654)taC>taT		transmembrane protein 215							75.0	66.0	69.0					9																	32784835		2190	4273	6463	SO:0001819	synonymous_variant	401498	0	0					g.chr9:32784835C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.654C>T	chr9.hg19:g.32784835C>T		0						p.Y218Y	NM_212558.2	NP_997723.2	0	0	0	1.928190	Q68D42	TM215_HUMAN		2	1019	+			Q6ZUU2	Silent	SNP	ENST00000342743.5	1	1	hg19	c.654C>T	CCDS6530.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-20.000000	1	0.170000	NM_212558			74	73		312	307	1		1			0	0	78	0		1	0	0	0	0	0	0	74	312
APTX	54840	broad.mit.edu	37	9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379819.1	-	4	466	c.467G>T	c.(466-468)aGc>aTc	p.S156I	APTX_ENST00000397172.3_Intron|APTX_ENST00000379817.2_Missense_Mutation_p.S142I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488								Editing and processing nucleases																														ENST00000379819.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(466-468)aGc>aTc	Editing and processing nucleases	aprataxin							134.0	129.0	131.0					9																	32987600		2203	4300	6503	SO:0001583	missense	54840	0	0					g.chr9:32987600C>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.467G>T	chr9.hg19:g.32987600C>A	ENSP00000369147:p.Ser156Ile	0					APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I|APTX_ENST00000397172.3_Intron|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000379817.2_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I	p.S156I			0	0	0	1.928190	Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	4	466	-			A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	1	1	hg19	c.467G>T		1	.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076943	0.07184	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91740	-1.92;-1.92;-1.91;0.85;-1.92;-1.91;-1.91;-2.9;-1.91;-2.42	5.28	0.073	0.14389	5.28	0.073	0.14389	.	0.947215	0.09089	N	0.850069	D	0.86785	0.6016	L	0.56769	1.78	0.09310	N	1	B;P;B;P	0.39748	0.013;0.5;0.007;0.686	B;B;B;B	0.33750	0.011;0.116;0.022;0.169	T	0.75348	-0.3349	10	0.38643	T	0.18	-0.0846	5.0193	0.14352	0.0:0.5212:0.1438:0.335	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	I	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156I;ENSP00000311547:S156I;ENSP00000369145:S142I;ENSP00000400806:S142I;ENSP00000369147:S156I;ENSP00000420263:S142I;ENSP00000419846:S142I;ENSP00000419042:S102I;ENSP00000369141:S142I;ENSP00000419020:S102I	ENSP00000311547:S156I	S	-	2	0	0	APTX	32977600	32977600	0.004000	0.15560	0.055000	0.19348	0.113000	0.19764	0.523000	0.22925	0.078000	0.16900	0.650000	0.86243	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_017692			109	108		562	549	1		1	1		0	0	117	0		1	1	0	37	0	116	0	109	562
DNAJA1	3301	broad.mit.edu	37	9	33029948	33029948	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33029948C>A	ENST00000330899.4	+	4	559	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	126					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)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AACAAGAAAACTGGCTCTGCA	0.318																																						ENST00000330899.4	0.360000	0.090000	2.800000e-01	1.400000e-01	0.200000	0.218898	0.200000	0.200000																										0				6						c.(376-378)Ctg>Atg		DnaJ (Hsp40) homolog, subfamily A, member 1							101.0	102.0	101.0					9																	33029948		2203	4299	6502	SO:0001583	missense	3301	0	0					g.chr9:33029948C>A	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.376C>A	chr9.hg19:g.33029948C>A	ENSP00000369127:p.Leu126Met	0					DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	p.L126M	NM_001539.2	NP_001530.1	0	0	0	1.928190	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	4	559	+			Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	0	1	hg19	c.376C>A	CCDS6533.1	0	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940845	0.73557	.	.	ENSG00000086061	ENST00000330899	T	0.63255	-0.03	5.16	4.26	0.50523	5.16	4.26	0.50523	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.95;0.988	T	0.77864	-0.2429	10	0.87932	D	0	-10.4543	11.8893	0.52620	0.0:0.9141:0.0:0.0859	.	126;126	Q86TL9;P31689	.;DNJA1_HUMAN	M	126	ENSP00000369127:L126M	ENSP00000369127:L126M	L	+	1	2	2	DNAJA1	33019948	33019948	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.001000	0.57046	1.321000	0.45227	0.462000	0.41574	CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1	0	0	0		2	2	2	0		0	0	89		89	89	1	2.060000	-7.678662	1	0.170000				9	8		502	494	0		1	1		0	0	89	0		9.938142e-01	9.997972e-01	0	11	0	935	0	9	502
DNAJA1	3301	broad.mit.edu	37	9	33034281	33034281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	237					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)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368																																						ENST00000330899.4	1.000000	0.450000	1	6.100000e-01	0.810000	0.807565	0.810000	1.000000																										0				6						c.(709-711)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 1							83.0	79.0	81.0					9																	33034281		2203	4300	6503	SO:0001819	synonymous_variant	3301	1	121412	33				g.chr9:33034281C>T	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.711C>T	chr9.hg19:g.33034281C>T		0					DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	p.G237G	NM_001539.2	NP_001530.1	0	0	0	1.928190	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	6	894	+			Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	1	1	hg19	c.711C>T	CCDS6533.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.318795	1	0.170000				12	11		155	148	1		1	1		0	0	60	0		9.989581e-01	1	0	124	0	1018	0	12	155
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607																																						ENST00000541274.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.V246V(1)	lung(1)	17						c.(343-345)Ctt>Ttt		aquaporin 7							62.0	69.0	67.0					9																	33385652		2203	4299	6502	SO:0001583	missense	364	0	0					g.chr9:33385652G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.343C>T	chr9.hg19:g.33385652G>A	ENSP00000438860:p.Leu115Phe	0					AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V	p.L115F			0	0	0	1.928190	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	5	792	-			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	1	1	hg19	c.343C>T		1	.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	0	AQP7	33375652	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	AQP7-204	KNOWN	basic	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	131		131	129	1	2.060000	-20.000000	1	0.170000	NM_001170			92	90		565	492	1		1	1		0	0	131	0		1	2.590217e-01	0	3	0	4	0	92	565
AQP3	360	broad.mit.edu	37	9	33447441	33447441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	ENST00000297991.4	-	1	168	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	30					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)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGGTCCCCAGGCACTCGGCC	0.677																																						ENST00000297991.4	1.000000	0.940000	1	9.900000e-01	0.990000	0.996171	0.990000	1.000000																										0				8						c.(88-90)Ctg>Atg		aquaporin 3 (Gill blood group)							20.0	22.0	21.0					9																	33447441		2194	4298	6492	SO:0001583	missense	360	0	0					g.chr9:33447441G>T		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.88C>A	chr9.hg19:g.33447441G>T	ENSP00000297991:p.Leu30Met	0					AQP3_ENST00000493581.1_5'UTR	p.L30M	NM_004925.4	NP_004916.1	0	0	0	1.928190	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	1	168	-			A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	0	1	hg19	c.88C>A	CCDS6542.1	1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411107	0.62399	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.87029	-2.2	5.74	3.91	0.45181	5.74	3.91	0.45181	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.69185	2.1	0.50813	D	0.999891	P;D;D	0.76494	0.745;0.998;0.999	P;D;D	0.71184	0.574;0.947;0.972	D	0.89934	0.4068	10	0.56958	D	0.05	.	9.5888	0.39532	0.1625:0.0:0.8375:0.0	.	30;30;30	C9JAH5;Q92482;B4E034	.;AQP3_HUMAN;.	M	30	ENSP00000297991:L30M	ENSP00000297991:L30M	L	-	1	2	2	AQP3	33437441	33437441	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.387000	0.34430	0.788000	0.33755	-0.258000	0.10820	CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.999990	1	0.170000	NM_004925			14	14		70	69	0		1	0		0	0	10	0		9.998293e-01	9.969181e-01	0	1	0	52	0	14	70
NOL6	65083	broad.mit.edu	37	9	33463341	33463341	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33463341G>T	ENST00000455041.2	-	23	2996	c.2937C>A	c.(2935-2937)gcC>gcA	p.A979A	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1031					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCAGAAGGAGGCAGCTGGCG	0.647																																						ENST00000455041.2	0.630000	0.130000	4.800000e-01	2.200000e-01	0.330000	0.356235	0.330000	0.300000																										0				27						c.(2935-2937)gcC>gcA		nucleolar protein 6 (RNA-associated)							33.0	35.0	35.0					9																	33463341		2203	4300	6503	SO:0001819	synonymous_variant	65083	0	0					g.chr9:33463341G>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2937C>A	chr9.hg19:g.33463341G>T		0					NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.A979A			0	0	0	1.928190	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	23	2996	-			Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000455041.2	0	1	hg19	c.2937C>A		0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	NOL6-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-7.940981	1	0.170000	NM_022917			6	6		209	202	0		1	1		0	0	38	0		9.618948e-01	6.490301e-01	0	7	0	67	0	6	209
NOL6	65083	broad.mit.edu	37	9	33468868	33468868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000455041.2_Silent_p.G283G|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	343					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCCACCCTGGCCCTGAAAGA	0.582																																						ENST00000379471.2	0.560000	0.300000	4.900000e-01	3.500000e-01	0.420000	0.428996	0.420000	0.420000																										0				27						c.(1027-1029)ggC>ggT		nucleolar protein 6 (RNA-associated)							123.0	129.0	127.0					9																	33468868		2203	4300	6503	SO:0001819	synonymous_variant	65083	0	0					g.chr9:33468868G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1029C>T	chr9.hg19:g.33468868G>A		0					NOL6_ENST00000455041.2_Silent_p.G283G|NOL6_ENST00000464829.1_5'UTR	p.G343G			0	0	0	1.928190	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	8	1116	-			Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	1	1	hg19	c.1029C>T		0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	0	0	1		16	2	2	0		0	1	235		235	234	1	2.060000	-3.887303	1	0.170000	NM_022917			40	41		1038	1017	0		1	1		0	0	235	0		9.996136e-01	7.393646e-01	0	4	0	66	0	40	1038
UBAP2	55833	broad.mit.edu	37	9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A					ubiquitin associated protein 2											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)		ACTGTGAGGAACAGGCTTCTG	0.453																																						ENST00000379238.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999854	0.990000	1.000000																										0				32						c.(898-900)gTt>gCt		ubiquitin associated protein 2							88.0	83.0	85.0					9																	33953440		2203	4300	6503	SO:0001583	missense	55833	0	0					g.chr9:33953440A>G	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.899T>C	chr9.hg19:g.33953440A>G	ENSP00000368540:p.Val300Ala	0					UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A	p.V300A			0	0	0	1.928190			LUSC - Lung squamous cell carcinoma(29;0.00575)	12	1016	-				Missense_Mutation	SNP	ENST00000379238.1	1	1	hg19	c.899T>C	CCDS6547.1	1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443080	0.25987	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.32272	2.73;2.73;2.73;2.43;2.46;2.15;1.46	5.85	3.75	0.43078	5.85	3.75	0.43078	.	0.868511	0.10085	N	0.717893	T	0.12732	0.0309	N	0.05383	-0.06	0.29230	N	0.873314	B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B	0.24974	0.004;0.012;0.001;0.001;0.001;0.005;0.057	T	0.39035	-0.9633	10	0.02654	T	1	-1.2114	3.8293	0.08867	0.4813:0.1924:0.3263:0.0	.	247;225;55;33;209;225;300	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	300;300;300;209;218;33;55;247;247;154	ENSP00000368540:V300A;ENSP00000416932:V300A;ENSP00000354039:V300A;ENSP00000368541:V33A;ENSP00000439329:V55A;ENSP00000404436:V247A;ENSP00000414800:V247A	ENSP00000354039:V300A	V	-	2	0	0	UBAP2	33943440	33943440	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.619000	0.36965	0.527000	0.28560	0.413000	0.27773	GTT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_018449			37	36		215	212	1		1	1		0	0	38	0		1	9.999757e-01	0	30	0	67	0	37	215
UBAP2	55833	broad.mit.edu	37	9	34017072	34017072	+	Silent	SNP	C	C	T	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000480885.1_5'UTR					ubiquitin associated protein 2											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)		TCTGTGGTTGCGTTGATTGTG	0.343																																						ENST00000379238.1	1.000000	0.740000	1	8.800000e-01	0.990000	0.957899	0.990000	1.000000																										0				32						c.(73-75)acG>acA		ubiquitin associated protein 2		C		0,4406		0,0,2203	145.0	123.0	130.0		75	3.5	0.6	9	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBAP2	NM_018449.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		25/1120	34017072	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55833	9	121412	43				g.chr9:34017072C>T	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.75G>A	chr9.hg19:g.34017072C>T		0					UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Silent_p.T25T|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000539807.1_5'UTR	p.T25T			0	0	0	1.928190			LUSC - Lung squamous cell carcinoma(29;0.00575)	2	192	-				Silent	SNP	ENST00000379238.1	1	1	hg19	c.75G>A	CCDS6547.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-3.318794	1	0.170000	NM_018449			36	35		356	351	0		1	1		0	0	51	0		1	9.832203e-01	0	10	0	56	0	36	356
KIF24	347240	broad.mit.edu	37	9	34263156	34263156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000402558.2	-	8	1482	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000379166.2_Silent_p.I486I|KIF24_ENST00000345050.2_Silent_p.I352I			Q5T7B8	KIF24_HUMAN	kinesin family member 24	486	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)			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)			CCAGTGCTCGGATACATTCCT	0.458																																						ENST00000402558.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999032	0.990000	1.000000																										0				32						c.(1456-1458)atC>atT		kinesin family member 24							182.0	168.0	173.0					9																	34263156		1988	4160	6148	SO:0001819	synonymous_variant	347240	0	0					g.chr9:34263156G>A	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.1458C>T	chr9.hg19:g.34263156G>A		0					KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000379166.2_Silent_p.I486I|KIF24_ENST00000379174.3_Silent_p.I352I	p.I486I			0	0	0	1.928190	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	8	1482	-			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	1	1	hg19	c.1458C>T	CCDS6551.2	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	1	0	1		2	2	2	0		0	0	19		19	19	1	2.060000	-13.067640	1	0.170000				18	18		82	80	1		1	0		0	0	19	0		9.999885e-01	1.631815e-01	0	0	0	4	0	18	82
KIAA1161	57462	broad.mit.edu	37	9	34372078	34372078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372078G>A	ENST00000297625.7	-	2	987	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	288					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGAGGTGACGTCTGAGCCCA	0.657																																						ENST00000297625.7	0.550000	0.120000	4.200000e-01	1.900000e-01	0.290000	0.314088	0.290000	0.270000																										0				12						c.(760-762)gaC>gaT		KIAA1161							33.0	37.0	36.0					9																	34372078		2143	4248	6391	SO:0001819	synonymous_variant	57462	0	0					g.chr9:34372078G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.762C>T	chr9.hg19:g.34372078G>A		0						p.D254D	NM_020702.3	NP_065753.2	0	0	0	1.928190	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	2	987	-			Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	0	1	hg19	c.762C>T		0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-7.251114	1	0.170000	XM_351807			6	6		239	239	0		1	1		0	0	30	0		9.650722e-01	3.926439e-01	0	5	0	44	0	6	239
DNAI1	27019	broad.mit.edu	37	9	34500719	34500719	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						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)			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)		GTGTGTTTAAGATTTTAAGTA	0.522									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242317.4	1.000000	0.770000	1	9.900000e-01	0.990000	0.982252	0.990000	1.000000																										0				34						c.e11-1		dynein, axonemal, intermediate chain 1							58.0	54.0	55.0					9																	34500719		2203	4300	6503	SO:0001630	splice_region_variant	27019	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr9:34500719G>T	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.902-1G>T	chr9.hg19:g.34500719G>T		0		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	0	0	0	1.928190	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	11	1072	+	all_epithelial(49;0.244)		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Splice_Site	SNP	ENST00000242317.4	1	1	hg19		CCDS6557.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201942	0.79127	.	.	ENSG00000122735	ENST00000242317	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4324	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DNAI1	34490719	34490719	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.857000	0.92250	2.539000	0.85634	0.563000	0.77884	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-19.996900	1	0.170000		Intron		14	14		100	99	1		1			0	0	38	0		9.998078e-01	0	0	0	0	0	0	14	100
DNAI1	27019	broad.mit.edu	37	9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	392					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)			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)		TCTCGACATCCACGTGGACCA	0.592									Kartagener syndrome																													ENST00000242317.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				34						c.(1174-1176)Cac>Aac		dynein, axonemal, intermediate chain 1							97.0	82.0	87.0					9																	34506735		2203	4300	6503	SO:0001583	missense	27019	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr9:34506735C>A	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.1174C>A	chr9.hg19:g.34506735C>A	ENSP00000242317:p.His392Asn	0						p.H392N	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	0	0	0	1.928190	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	13	1345	+	all_epithelial(49;0.244)		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	1	1	hg19	c.1174C>A	CCDS6557.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820800	0.71028	.	.	ENSG00000122735	ENST00000242317	T	0.69806	-0.43	5.3	5.3	0.74995	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.79805	2.47	0.80722	D	1	B	0.25169	0.119	B	0.34590	0.186	T	0.69643	-0.5090	10	0.31617	T	0.26	.	16.1296	0.81418	0.0:1.0:0.0:0.0	.	392	Q9UI46	DNAI1_HUMAN	N	392	ENSP00000242317:H392N	ENSP00000242317:H392N	H	+	1	0	0	DNAI1	34496735	34496735	1.000000	0.71417	0.953000	0.39169	0.409000	0.31022	7.298000	0.78815	2.478000	0.83669	0.563000	0.77884	CAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-2.977768	1	0.170000				55	54		293	282	1		1			0	0	76	0		1	0	0	0	0	0	0	55	293
ARID3C	138715	broad.mit.edu	37	9	34621468	34621468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34621468C>A	ENST00000378909.2	-	7	1318	c.1226G>T	c.(1225-1227)aGc>aTc	p.S409I	DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	409	Pro-rich.				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)			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)		GGGCAAGATGCTGGAAGGGGG	0.622																																						ENST00000378909.2	0.910000	0.260000	7.200000e-01	3.800000e-01	0.530000	0.560474	0.530000	0.510000																										0				14						c.(1225-1227)aGc>aTc		AT rich interactive domain 3C (BRIGHT-like)							24.0	28.0	27.0					9																	34621468		2203	4300	6503	SO:0001583	missense	138715	0	0					g.chr9:34621468C>A		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.1226G>T	chr9.hg19:g.34621468C>A	ENSP00000368189:p.Ser409Ile	0					DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank	p.S409I	NM_001017363.1	NP_001017363.1	0	0	0	1.928190	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	7	1318	-	all_epithelial(49;0.102)			Missense_Mutation	SNP	ENST00000378909.2	1	1	hg19	c.1226G>T	CCDS35006.1	0	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632287	0.29068	.	.	ENSG00000205143	ENST00000378909	T	0.64438	-0.1	4.37	2.52	0.30459	4.37	2.52	0.30459	.	0.251286	0.28688	N	0.014467	T	0.48677	0.1513	L	0.44542	1.39	0.28118	N	0.930726	P	0.42039	0.769	B	0.39185	0.293	T	0.42916	-0.9423	10	0.42905	T	0.14	-6.1084	6.6536	0.22975	0.0:0.7823:0.0:0.2177	.	409	A6NKF2	ARI3C_HUMAN	I	409	ENSP00000368189:S409I	ENSP00000368189:S409I	S	-	2	0	0	ARID3C	34611468	34611468	0.001000	0.12720	0.636000	0.29352	0.735000	0.41995	0.277000	0.18734	0.593000	0.29745	0.549000	0.68633	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	0	0	1		2	2	2	0		0	0	41		41	39	1	2.060000	-11.397470	1	0.170000	XM_071061			9	9		185	179	0		1			0	0	41	0		9.937053e-01	0	0	0	0	0	0	9	185
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000277010.4	-	4	535	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CACCAGGCCCGTGTACTACCG	0.647																																						ENST00000277010.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999937	0.990000	1.000000																										0				2						c.(460-462)caC>caT		sigma non-opioid intracellular receptor 1	Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)						72.0	69.0	70.0					9																	34635839		2203	4300	6503	SO:0001819	synonymous_variant	10280	1	121410	31				g.chr9:34635839G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.462C>T	chr9.hg19:g.34635839G>A		0					SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.H123H	p.H154H	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	0	0	0	1.928190	Q99720	SGMR1_HUMAN		4	535	-			D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	1	1	hg19	c.462C>T	CCDS6562.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-19.840670	1	0.170000	NM_005866			41	39		234	231	1		1	1		0	0	64	0		1	1	0	66	0	177	0	41	234
GALT	2592	broad.mit.edu	37	9	34648390	34648390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000378842.3	+	7	666	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_ENST00000556278.1_Silent_p.A123A|GALT_ENST00000450095.2_Silent_p.A99A|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	208					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572									Galactosemia																													ENST00000378842.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(622-624)gcC>gcA		galactose-1-phosphate uridylyltransferase							86.0	88.0	87.0					9																	34648390		2203	4300	6503	SO:0001819	synonymous_variant	2592	0	0		Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	g.chr9:34648390C>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.624C>A	chr9.hg19:g.34648390C>A		0					GALT_ENST00000556278.1_Silent_p.A123A|GALT_ENST00000450095.2_Silent_p.A99A|IL11RA_ENST00000555003.1_5'Flank	p.A208A	NM_000155.3	NP_000146.2	0	0	0	1.928190	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	7	666	+	all_epithelial(49;0.102)		B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Silent	SNP	ENST00000378842.3	1	1	hg19	c.624C>A	CCDS6565.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-3.575686	1	0.170000	NM_000155			98	96		400	394	1		1	1		0	0	84	0		1	9.997159e-01	0	8	0	43	0	98	400
CCL27	10850	broad.mit.edu	37	9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	46					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582																																						ENST00000259631.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				5						c.(136-138)Cta>Ata		chemokine (C-C motif) ligand 27							79.0	67.0	71.0					9																	34662348		2203	4300	6503	SO:0001583	missense	10850	0	0					g.chr9:34662348G>T	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.136C>A	chr9.hg19:g.34662348G>T	ENSP00000259631:p.Leu46Ile	0					RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	p.L46I	NM_006664.2	NP_006655.1	0	0	0	1.928190	Q9Y4X3	CCL27_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	2	194	-	all_epithelial(49;0.102)			Missense_Mutation	SNP	ENST00000259631.4	1	1	hg19	c.136C>A	CCDS6569.1	1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786428	0.70337	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.46	0.39613	5.37	3.46	0.39613	Chemokine interleukin-8-like domain (2);	0.000000	0.43579	D	0.000546	T	0.08044	0.0201	L	0.57536	1.79	0.28183	N	0.928067	B	0.31769	0.339	B	0.33690	0.168	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.2276	7.1555	0.25635	0.0913:0.0:0.7357:0.173	.	46	Q9Y4X3	CCL27_HUMAN	I	46	ENSP00000259631:L46I	ENSP00000259631:L46I	L	-	1	2	2	CCL27	34652348	34652348	0.997000	0.39634	0.989000	0.46669	0.914000	0.54420	1.300000	0.33436	1.355000	0.45865	0.557000	0.71058	CTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	1	0	1		2	2	2	0		0	0	45		45	43	1	2.060000	-20.000000	1	0.170000	NM_006664			38	37		183	179	1		1			0	0	45	0		1	0	0	0	0	0	0	38	183
CCL21	6366	broad.mit.edu	37	9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	87					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592																																						ENST00000259607.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(259-261)aTg>aAg		chemokine (C-C motif) ligand 21							54.0	53.0	53.0					9																	34709608		2203	4300	6503	SO:0001583	missense	6366	0	0					g.chr9:34709608A>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.260T>A	chr9.hg19:g.34709608A>T	ENSP00000259607:p.Met87Lys	0					CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	p.M87K	NM_002989.2	NP_002980.1	0	0	0	1.928190	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	3	317	-	all_epithelial(49;0.0899)			Missense_Mutation	SNP	ENST00000259607.2	1	1	hg19	c.260T>A	CCDS6571.1	1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505179	0.85282	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.06449	3.3;3.3	5.51	5.51	0.81932	5.51	5.51	0.81932	Chemokine interleukin-8-like domain (3);	0.085402	0.51477	D	0.000087	T	0.21267	0.0512	M	0.81239	2.535	0.44976	D	0.997993	D	0.59357	0.985	P	0.57620	0.824	T	0.00433	-1.1742	10	0.87932	D	0	-29.6242	12.2957	0.54844	1.0:0.0:0.0:0.0	.	87	O00585	CCL21_HUMAN	K	87	ENSP00000259607:M87K;ENSP00000368069:M87K	ENSP00000259607:M87K	M	-	2	0	0	CCL21	34699608	34699608	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.071000	0.57556	2.212000	0.71576	0.528000	0.53228	ATG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	0	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_002989			67	67		280	276	1		1	0		0	0	77	0		1	1	0	0	0	323	0	67	280
KIAA1045	23349	broad.mit.edu	37	9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	182							metal ion binding (GO:0046872)			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)			CACAGAAACAGGCTGGAGCTG	0.572																																						ENST00000242315.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(544-546)Ggc>Tgc		KIAA1045							46.0	61.0	56.0					9																	34972508		2041	4172	6213	SO:0001583	missense	23349	0	0					g.chr9:34972508G>T	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.544G>T	chr9.hg19:g.34972508G>T	ENSP00000242315:p.Gly182Cys	0					KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C|KIAA1045_ENST00000476115.2_3'UTR	p.G182C	NM_015297.1	NP_056112.1	0	0	0	1.928190	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)	3	626	+			B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	1	1	hg19	c.544G>T	CCDS43796.1	1	.	.	.	.	.	.	.	.	.	.	g	33	5.206604	0.95033	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80106	-0.1521	9	0.87932	D	0	-2.4144	18.8848	0.92372	0.0:0.0:1.0:0.0	.	182	Q9UPV7	K1045_HUMAN	C	182	.	ENSP00000242315:G182C	G	+	1	0	0	KIAA1045	34962508	34962508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.743000	0.91592	2.700000	0.92200	0.655000	0.94253	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-2.645208	1	0.170000	XM_048592			86	83		341	332	1		1	0		0	0	77	0		1	0	0	0	0	1	0	86	341
DNAJB5	25822	broad.mit.edu	37	9	34993428	34993428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	66	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGTATGACCAGTATGGGGAGG	0.552																																						ENST00000541010.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(196-198)caG>caA		DnaJ (Hsp40) homolog, subfamily B, member 5							87.0	91.0	90.0					9																	34993428		2203	4300	6503	SO:0001819	synonymous_variant	25822	0	0					g.chr9:34993428G>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.198G>A	chr9.hg19:g.34993428G>A		0					DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q	p.Q66Q			0	0	0	1.928190	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)	1	3210	+			B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	1	1	hg19	c.198G>A	CCDS35007.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-20.000000	1	0.170000				112	111		457	448	0		1	1		0	0	121	0		1	9.996092e-01	0	11	0	37	0	112	457
C9orf131	138724	broad.mit.edu	37	9	35044417	35044417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000421362.2_Silent_p.S549S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S524S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522																																						ENST00000312292.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1789-1791)tcC>tcA		chromosome 9 open reading frame 131							107.0	109.0	108.0					9																	35044417		2203	4300	6503	SO:0001819	synonymous_variant	138724	0	0					g.chr9:35044417C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1791C>A	chr9.hg19:g.35044417C>A		0					C9orf131_ENST00000354479.5_Silent_p.S524S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.S549S	p.S597S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	0	0	0	1.928190	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)	2	1838	+	all_epithelial(49;0.22)		A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	1	1	hg19	c.1791C>A	CCDS6572.2	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	1	0	1		2	2	2	0		0	0	174		174	172	1	2.060000	-4.210462	1	0.170000	NM_203299			186	182		638	629	1		1			0	0	174	0		1	0	0	0	0	0	0	186	638
C9orf131	138724	broad.mit.edu	37	9	35045017	35045017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000421362.2_Silent_p.S749S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S724S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577																																						ENST00000312292.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(2389-2391)agC>agT		chromosome 9 open reading frame 131							130.0	138.0	135.0					9																	35045017		2203	4300	6503	SO:0001819	synonymous_variant	138724	0	0					g.chr9:35045017C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2391C>T	chr9.hg19:g.35045017C>T		0					C9orf131_ENST00000354479.5_Silent_p.S724S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.S749S	p.S797S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	0	0	0	1.928190	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)	2	2438	+	all_epithelial(49;0.22)		A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	1	1	hg19	c.2391C>T	CCDS6572.2	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	1	0	1		2	2	2	0		0	0	265		265	260	1	2.060000	-20.000000	1	0.170000	NM_203299			213	203		1078	1044	0		1			0	0	265	0		1	0	0	0	0	0	0	213	1078
FANCG	2189	broad.mit.edu	37	9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	514					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)			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)			AGGGCGGCTGCCCGAAGCTGC	0.567			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999808	0.990000	1.000000			yes	Rec		Fanconi anaemia G	yes	Rec		Fanconi anaemia G	9	9p13	9p13	2189	Mis, N, F, S	"""Fanconi anemia, complementation group G"""				L	L		AML, leukemia			0				28						c.(1540-1542)Gca>Aca	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							92.0	86.0	88.0					9																	35075020		2203	4300	6503	SO:0001583	missense	2189	0	0					g.chr9:35075020C>T	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.1540G>A	chr9.hg19:g.35075020C>T	ENSP00000367910:p.Ala514Thr	0					FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	p.A514T	NM_004629.1	NP_004620.1	0	0	0	1.928190	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)	12	2031	-				Missense_Mutation	SNP	ENST00000378643.3	1	1	hg19	c.1540G>A	CCDS6574.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257020	0.39896	.	.	ENSG00000221829	ENST00000378643	T	0.55760	0.5	5.7	1.54	0.23209	5.7	1.54	0.23209	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32941	0.0846	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	9	0.29301	T	0.29	0.5318	4.7872	0.13230	0.4716:0.354:0.0:0.1744	.	514	O15287	FANCG_HUMAN	T	514	ENSP00000367910:A514T	ENSP00000367910:A514T	A	-	1	0	0	FANCG	35065020	35065020	0.001000	0.12720	0.203000	0.23512	0.973000	0.67179	0.366000	0.20365	0.004000	0.14682	-0.181000	0.13052	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_004629			48	47		317	310	1		1	1		0	0	75	0		1	9.955288e-01	0	17	0	40	0	48	317
PIGO	84720	broad.mit.edu	37	9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000492770.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000298004.5_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	273					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)			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)			CCAGCCACTACCAGCAGTGTG	0.498																																						ENST00000378617.3	1.000000	0.720000	1	9.300000e-01	0.990000	0.971022	0.990000	1.000000																										0				38						c.(817-819)Gta>Ata		phosphatidylinositol glycan anchor biosynthesis, class O							49.0	48.0	48.0					9																	35093540		2203	4300	6503	SO:0001583	missense	84720	2	121412	28				g.chr9:35093540C>T	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.817G>A	chr9.hg19:g.35093540C>T	ENSP00000367880:p.Val273Ile	0					PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I	p.V273I	NM_032634.3	NP_116023.2	0	0	0	1.928190	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)	5	1211	-			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	1	1	hg19	c.817G>A	CCDS6575.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991476	0.74703	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285709	0.34386	N	0.004009	T	0.22513	0.0543	N	0.17901	0.54	0.45318	D	0.998311	P;B	0.46512	0.879;0.091	P;B	0.45639	0.488;0.114	T	0.01036	-1.1473	10	0.25106	T	0.35	-22.0031	9.7401	0.40413	0.1326:0.6196:0.2478:0.0	.	273;273	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	273	ENSP00000298004:V273I;ENSP00000367880:V273I;ENSP00000339382:V273I;ENSP00000354678:V273I	ENSP00000298004:V273I	V	-	1	0	0	PIGO	35083540	35083540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.894000	0.99253	0.655000	0.94253	GTA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-19.999850	1	0.170000	NM_032634			16	16		132	128	1		1	1		0	0	28	0		9.999376e-01	9.997097e-01	0	22	0	96	0	16	132
PIGO	84720	broad.mit.edu	37	9	35095227	35095227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000492770.1_5'UTR|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000298004.5_Silent_p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	112					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)			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)			GGGGCTGAATCTCCAGGATCC	0.597																																						ENST00000378617.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(334-336)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class O							99.0	100.0	99.0					9																	35095227		2203	4300	6503	SO:0001819	synonymous_variant	84720	0	0					g.chr9:35095227C>T	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.336G>A	chr9.hg19:g.35095227C>T		0					PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000298004.5_Silent_p.E112E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E	p.E112E	NM_032634.3	NP_116023.2	0	0	0	1.928190	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)	2	730	-			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	1	1	hg19	c.336G>A	CCDS6575.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	1	0	1		2	2	2	0		0	0	108		108	106	1	2.060000	-20.000000	1	0.170000	NM_032634			130	129		557	549	1		1	1		0	0	108	0		1	9.999997e-01	0	29	0	63	0	130	557
STOML2	30968	broad.mit.edu	37	9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.A195V|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	240					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)			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)			CTGACCTGCTGCCTGATTTAT	0.557																																						ENST00000356493.5	0.570000	0.260000	4.900000e-01	3.300000e-01	0.400000	0.415490	0.400000	0.400000																										0				16						c.(718-720)gCa>gTa		stomatin (EPB72)-like 2							103.0	103.0	103.0					9																	35101137		2203	4300	6503	SO:0001583	missense	30968	0	0					g.chr9:35101137G>A	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.719C>T	chr9.hg19:g.35101137G>A	ENSP00000348886:p.Ala240Val	0					STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	p.A240V	NM_013442.1	NP_038470.1	0	0	0	1.928190	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)	7	781	-			B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	1	1	hg19	c.719C>T	CCDS6577.1	0	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006908	0.93287	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.99382	-4.06;-5.8	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.051786	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97737	1.0206	10	0.87932	D	0	-0.1484	19.0555	0.93062	0.0:0.0:1.0:0.0	.	195;240	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	240;195	ENSP00000348886:A240V;ENSP00000395743:A195V	ENSP00000348886:A240V	A	-	2	0	0	STOML2	35091137	35091137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.620000	0.98373	2.739000	0.93911	0.563000	0.77884	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	0	0	1		2	2	2	0		0	0	133		133	131	1	2.060000	-3.471162	1	0.170000	NM_013442			25	22		678	653	0		1	1		0	0	133	0		9.999997e-01	9.999616e-01	0	5	0	425	0	25	678
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171					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)			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)			ACGGAGGCAGCGGATACCCCA	0.567																																						ENST00000356493.5	1.000000	0.720000	1	8.100000e-01	0.910000	0.912802	0.910000	1.000000																										0				16						c.(511-513)cGc>cAc		stomatin (EPB72)-like 2							141.0	142.0	141.0					9																	35101490		2203	4300	6503	SO:0001583	missense	30968	1	121412	32				g.chr9:35101490C>T	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.512G>A	chr9.hg19:g.35101490C>T	ENSP00000348886:p.Arg171His	0					STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	p.R171H	NM_013442.1	NP_038470.1	0	0	0	1.928190	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)	6	574	-			B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	1	1	hg19	c.512G>A	CCDS6577.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	0	STOML2	35091490	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	1	0	1		2	2	2	0		0	0	183		183	182	1	2.060000	-15.434760	1	0.170000	NM_013442			70	69		790	778	1		1	1		0	0	183	0		1	1	0	55	0	418	0	70	790
UNC13B	10497	broad.mit.edu	37	9	35381663	35381663	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000378496.4_Silent_p.I785I|UNC13B_ENST00000396787.1_Silent_p.I797I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	785					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)			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)			CCCAAGAAATTGTGGATGAAT	0.517																																						ENST00000378495.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(2353-2355)atT>atC		unc-13 homolog B (C. elegans)							205.0	189.0	194.0					9																	35381663		2203	4300	6503	SO:0001819	synonymous_variant	10497	0	0					g.chr9:35381663T>C	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.2355T>C	chr9.hg19:g.35381663T>C		0					UNC13B_ENST00000396787.1_Silent_p.I797I|UNC13B_ENST00000378496.4_Silent_p.I785I	p.I785I	NM_006377.3	NP_006368.3	0	0	0	1.928190	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)	19	2577	+	all_epithelial(49;0.212)		Q5VYM8	Silent	SNP	ENST00000378495.3	1	1	hg19	c.2355T>C	CCDS6579.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	0	0	1		17	3	2	1		1	1	164		164	163	1	2.060000	-20.000000	1	0.170000	NM_006377			126	122		645	637	0		1	1		1	0	164	0		1	9.992471e-01	0	22	0	46	0	126	645
UNC13B	10497	broad.mit.edu	37	9	35403836	35403836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000378496.4_Silent_p.L1547L|UNC13B_ENST00000396787.1_Silent_p.L1559L|ATP8B5P_ENST00000430846.1_RNA	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1528	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)			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)			CGTGCTAGGGCTGGCTGTGAT	0.587																																						ENST00000378495.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999930	0.990000	1.000000																										0				63						c.(4582-4584)Ctg>Ttg		unc-13 homolog B (C. elegans)							90.0	85.0	87.0					9																	35403836		2203	4300	6503	SO:0001819	synonymous_variant	10497	0	0					g.chr9:35403836C>T	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.4582C>T	chr9.hg19:g.35403836C>T		0					UNC13B_ENST00000396787.1_Silent_p.L1559L|UNC13B_ENST00000378496.4_Silent_p.L1547L|ATP8B5P_ENST00000430846.1_RNA	p.L1528L	NM_006377.3	NP_006368.3	0	0	0	1.928190	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)	39	4804	+	all_epithelial(49;0.212)		Q5VYM8	Silent	SNP	ENST00000378495.3	1	1	hg19	c.4582C>T	CCDS6579.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_006377			50	50		314	309	1		1	1		0	0	52	0		1	9.999987e-01	0	37	0	90	0	50	314
RUSC2	9853	broad.mit.edu	37	9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	532						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			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)			GCAGCCATGGCCGGGCCTGGC	0.657																																						ENST00000455600.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				32						c.(1594-1596)gCc>gTc		RUN and SH3 domain containing 2							22.0	24.0	23.0					9																	35548113		2200	4294	6494	SO:0001583	missense	9853	0	0					g.chr9:35548113C>T	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.1595C>T	chr9.hg19:g.35548113C>T	ENSP00000393922:p.Ala532Val	0						p.A532V	NM_001135999.1	NP_001129471	0	0	0	1.928190	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)	2	2164	+			A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	1	1	hg19	c.1595C>T	CCDS35008.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369892	0.42003	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30981	1.51;1.51	5.67	4.78	0.61160	5.67	4.78	0.61160	.	0.353263	0.30244	N	0.010071	T	0.23330	0.0564	L	0.32530	0.975	0.27433	N	0.953941	B	0.16166	0.016	B	0.15870	0.014	T	0.12293	-1.0553	10	0.18710	T	0.47	-0.8445	13.4712	0.61283	0.0:0.9253:0.0:0.0747	.	532	Q8N2Y8	RUSC2_HUMAN	V	532	ENSP00000355177:A532V;ENSP00000393922:A532V	ENSP00000355177:A532V	A	+	2	0	0	RUSC2	35538113	35538113	0.972000	0.33761	0.971000	0.41717	0.814000	0.46013	2.759000	0.47573	1.403000	0.46800	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	1	0	1		2	2	2	0		0	0	46		46	45	1	2.060000	-20.000000	1	0.170000	XM_048462			46	45		193	192	1		1	1		0	0	46	0		1	9.998781e-01	0	9	0	51	0	46	193
RUSC2	9853	broad.mit.edu	37	9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	568						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			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)			GAGTGTTGGGGACTCCTCCCA	0.637																																						ENST00000455600.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998909	0.990000	1.000000																										0				32						c.(1702-1704)Gac>Aac		RUN and SH3 domain containing 2							21.0	24.0	23.0					9																	35548220		2203	4300	6503	SO:0001583	missense	9853	0	0					g.chr9:35548220G>A	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.1702G>A	chr9.hg19:g.35548220G>A	ENSP00000393922:p.Asp568Asn	0						p.D568N	NM_001135999.1	NP_001129471	0	0	0	1.928190	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)	2	2271	+			A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	1	1	hg19	c.1702G>A	CCDS35008.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125658	0.77436	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26957	1.7;1.7	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.184440	0.47852	D	0.000209	T	0.42517	0.1206	L	0.29908	0.895	0.47862	D	0.99953	D	0.89917	1.0	D	0.83275	0.996	T	0.19745	-1.0296	10	0.59425	D	0.04	-21.526	19.1701	0.93574	0.0:0.0:1.0:0.0	.	568	Q8N2Y8	RUSC2_HUMAN	N	568	ENSP00000355177:D568N;ENSP00000393922:D568N	ENSP00000355177:D568N	D	+	1	0	0	RUSC2	35538220	35538220	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.601000	0.74136	2.777000	0.95525	0.655000	0.94253	GAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	XM_048462			24	23		138	137	1		1	1		0	0	34	0		9.999998e-01	9.587727e-01	0	7	0	26	0	24	138
FAM166B	730112	broad.mit.edu	37	9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577																																						ENST00000399742.2	1.000000	0.460000	1	6.200000e-01	0.800000	0.803718	0.800000	1.000000																										0				9						c.(13-15)aGc>aTc		family with sequence similarity 166, member B							83.0	89.0	87.0					9																	35563812		1922	4140	6062	SO:0001583	missense	730112	0	0					g.chr9:35563812C>A	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.14G>T	chr9.hg19:g.35563812C>A	ENSP00000382646:p.Ser5Ile	0					FAM166B_ENST00000492890.1_5'UTR	p.S5I	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	0	0	0	1.928190	A8MTA8	F166B_HUMAN		1	84	-			A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	1	1	hg19	c.14G>T	CCDS56572.1	0	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292916	0.60086	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.4	3.53	0.40419	5.4	3.53	0.40419	.	0.689568	0.11534	U	0.554378	T	0.40423	0.1116	N	0.22421	0.69	0.24533	N	0.994109	D;D;P;D	0.67145	0.981;0.996;0.483;0.996	P;P;B;D	0.63877	0.77;0.853;0.163;0.919	T	0.16364	-1.0405	9	0.59425	D	0.04	-5.9631	6.9594	0.24590	0.0:0.7324:0.176:0.0917	.	5;5;5;5	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	5	.	ENSP00000382646:S5I	S	-	2	0	0	FAM166B	35553812	35553812	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	1.156000	0.31712	0.808000	0.34231	0.650000	0.86243	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-6.059978	1	0.170000	NM_001099951			14	12		183	175	0		1	0		0	0	34	0		9.996942e-01	9.536121e-02	0	0	0	7	0	14	183
TESK1	7016	broad.mit.edu	37	9	35609358	35609358	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	500					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACCTGTTCCTCGGCCTCCC	0.642																																						ENST00000336395.5	0.740000	0.300000	6.200000e-01	3.900000e-01	0.490000	0.512628	0.490000	0.490000																										0				27						c.(1498-1500)tcC>tcA		testis-specific kinase 1							35.0	38.0	37.0					9																	35609358		2194	4287	6481	SO:0001819	synonymous_variant	7016	0	0					g.chr9:35609358C>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1500C>A	chr9.hg19:g.35609358C>A		0					TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	p.S500S	NM_006285.2	NP_006276.2	0	0	0	1.928190	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	10	1750	+			Q8IXZ8	Silent	SNP	ENST00000336395.5	1	1	hg19	c.1500C>A	CCDS6580.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-3.038528	1	0.170000	NM_006285			18	18		395	385	0		1	1		0	0	82	0		9.999788e-01	9.848271e-01	0	6	0	145	0	18	395
CA9	768	broad.mit.edu	37	9	35675756	35675756	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTCCCACCCCAGGCGACCCGC	0.706																																						ENST00000378357.4	0.900000	0.290000	7.300000e-01	4.100000e-01	0.550000	0.573851	0.550000	0.530000																										0				17						c.e3-1		carbonic anhydrase IX	Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)						12.0	15.0	14.0					9																	35675756		2014	4203	6217	SO:0001630	splice_region_variant	768	0	0					g.chr9:35675756A>G	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.434-1A>G	chr9.hg19:g.35675756A>G		0							NM_001216.2	NP_001207.2	0	0	0	1.928190	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	3	537	+	all_epithelial(49;0.217)		Q5T4R1	Splice_Site	SNP	ENST00000378357.4	1	1	hg19		CCDS6585.1	0	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913709	0.52439	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9181	0.47148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CA9	35665756	35665756	0.999000	0.42202	0.665000	0.29768	0.679000	0.39708	3.086000	0.50159	2.071000	0.62044	0.379000	0.24179	.	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-13.844620	1	0.170000	NM_001216	Intron		11	11		218	214	0		1	0		0	0	44	0		9.982927e-01	0	0	1	0	0	0	11	218
TPM2	7169	broad.mit.edu	37	9	35685748	35685748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000360958.2	-	3	374	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000378292.3_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622																																						ENST00000360958.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(268-270)cgC>cgT		tropomyosin 2 (beta)							44.0	46.0	46.0					9																	35685748		2203	4300	6503	SO:0001819	synonymous_variant	7169	0	0					g.chr9:35685748G>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.270C>T	chr9.hg19:g.35685748G>A		0					TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000378292.3_Silent_p.R90R	p.R90R	NM_003289.3	NP_003280.2	0	0	0	1.928190	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	3	374	-	all_epithelial(49;0.121)		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	ENST00000360958.2	1	1	hg19	c.270C>T	CCDS6587.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	1	0	1		2	2	2	0		0	0	84		84	82	1	2.060000	-20.000000	1	0.170000	NM_003289			77	76		371	363	1		1	1		0	0	84	0		1	1	0	24	0	1631	0	77	371
TLN1	7094	broad.mit.edu	37	9	35697899	35697899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35697899C>A	ENST00000314888.9	-	57	7868	c.7515G>T	c.(7513-7515)caG>caT	p.Q2505H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2505	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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)			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)			GCATTTCTTCCTGTGCTGCGA	0.562																																						ENST00000314888.9	0.560000	0.140000	4.400000e-01	2.200000e-01	0.310000	0.332898	0.310000	0.300000																										0				85						c.(7513-7515)caG>caT		talin 1							99.0	90.0	93.0					9																	35697899		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35697899C>A	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.7515G>T	chr9.hg19:g.35697899C>A	ENSP00000316029:p.Gln2505His	0					TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	p.Q2505H	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	57	7868	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	0	1	hg19	c.7515G>T	CCDS35009.1	0	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995911	0.54147	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.54071	0.59;0.59	5.09	0.961	0.19638	5.09	0.961	0.19638	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70230	-0.4929	10	0.72032	D	0.01	-16.1363	9.2791	0.37718	0.0:0.6089:0.0:0.3911	.	2505	Q9Y490	TLN1_HUMAN	H	2505;2393	ENSP00000316029:Q2505H;ENSP00000442981:Q2393H	ENSP00000316029:Q2505H	Q	-	3	2	2	TLN1	35687899	35687899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.254000	0.32897	0.327000	0.23409	0.563000	0.77884	CAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	1		2	2	2	0		0	0	66		66	65	1	2.060000	-3.581311	1	0.170000	NM_006289			8	7		291	287	0		1	1		0	0	66	0		9.888820e-01	9.999924e-01	0	25	0	1062	0	8	291
TLN1	7094	broad.mit.edu	37	9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2273					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)			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)			ACACGCTTTGAATGTCCTGTC	0.567																																						ENST00000314888.9	0.870000	0.270000	7.000000e-01	3.800000e-01	0.520000	0.546940	0.520000	0.510000																										0				85						c.(6817-6819)Tca>Gca		talin 1							157.0	126.0	137.0					9																	35699410		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35699410A>C	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.6817T>G	chr9.hg19:g.35699410A>C	ENSP00000316029:p.Ser2273Ala	0					TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	p.S2273A	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	51	7170	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.6817T>G	CCDS35009.1	0	.	.	.	.	.	.	.	.	.	.	a	25.0	4.590915	0.86851	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.74	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.86953	2.85	0.58432	D	0.999999	P	0.47762	0.9	P	0.54759	0.76	D	0.87951	0.2723	10	0.72032	D	0.01	-6.979	16.1379	0.81502	1.0:0.0:0.0:0.0	.	2273	Q9Y490	TLN1_HUMAN	A	2273;2161	ENSP00000316029:S2273A;ENSP00000442981:S2161A	ENSP00000316029:S2273A	S	-	1	0	0	TLN1	35689410	35689410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.324000	0.96373	2.221000	0.72209	0.529000	0.55759	TCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	65		65	64	1	2.060000	-12.669710	1	0.170000	NM_006289			10	10		210	203	0		1	1		0	0	65	0		9.965558e-01	9.999997e-01	0	27	0	806	0	10	210
TLN1	7094	broad.mit.edu	37	9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A	rs373819052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1904	Interaction with SYNM.				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)			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)			AGCAGCCACCGCTGCAGGCTT	0.602																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(5710-5712)gCg>gTg		talin 1		G	VAL/ALA	0,4406		0,0,2203	68.0	71.0	70.0		5711	5.7	1.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1904/2542	35705570	1,13005	2203	4300	6503	SO:0001583	missense	7094	7	121408	41				g.chr9:35705570G>A	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.5711C>T	chr9.hg19:g.35705570G>A	ENSP00000316029:p.Ala1904Val	0					TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	p.A1904V	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	43	6064	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.5711C>T	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058624	0.55325	0.0	1.16E-4	ENSG00000137076	ENST00000314888	T	0.25749	1.78	5.66	5.66	0.87406	5.66	5.66	0.87406	Vinculin-binding site-containing domain (1);	0.102540	0.64402	D	0.000003	T	0.26085	0.0636	L	0.49350	1.555	0.80722	D	1	B	0.28324	0.207	B	0.21917	0.037	T	0.05338	-1.0891	10	0.16420	T	0.52	-10.0954	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1904	Q9Y490	TLN1_HUMAN	V	1904	ENSP00000316029:A1904V	ENSP00000316029:A1904V	A	-	2	0	0	TLN1	35695570	35695570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.598000	0.82745	2.662000	0.90505	0.555000	0.69702	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	100		100	98	1	2.060000	-20.000000	1	0.170000	NM_006289			122	119		523	514	1		1	1		0	0	100	0		1	1	0	38	0	401	0	122	523
TLN1	7094	broad.mit.edu	37	9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A	rs267602229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1593	Interaction with SYNM.				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)			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)			ATGGCAGCCCGACCCTGGGGA	0.607																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999554	0.990000	1.000000																										0				85						c.(4777-4779)Cgg>Tgg		talin 1							39.0	45.0	43.0					9																	35707247		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35707247G>A	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.4777C>T	chr9.hg19:g.35707247G>A	ENSP00000316029:p.Arg1593Trp	0					TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	p.R1593W	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	37	5130	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.4777C>T	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227786	0.58668	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.51;-0.53	5.69	3.84	0.44239	5.69	3.84	0.44239	.	0.248692	0.42053	N	0.000764	T	0.72867	0.3514	M	0.73217	2.22	0.46298	D	0.998973	D	0.67145	0.996	P	0.51487	0.671	T	0.72584	-0.4249	10	0.62326	D	0.03	-10.573	6.5407	0.22378	0.0692:0.1302:0.6655:0.1351	.	1593	Q9Y490	TLN1_HUMAN	W	1593	ENSP00000316029:R1593W;ENSP00000442981:R1593W	ENSP00000316029:R1593W	R	-	1	2	2	TLN1	35697247	35697247	0.265000	0.24102	0.998000	0.56505	0.738000	0.42128	2.769000	0.47654	0.744000	0.32741	0.561000	0.74099	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-3.318801	1	0.170000	NM_006289			52	51		371	360	1		1	1		0	0	79	0		1	1	0	60	0	372	0	52	371
TLN1	7094	broad.mit.edu	37	9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P|TLN1_ENST00000464379.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1446	Interaction with SYNM.				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)			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)			GACACCAACCAGATATGCAGC	0.522																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				85						c.(4336-4338)cTg>cCg		talin 1							58.0	58.0	58.0					9																	35708471		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35708471A>G	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.4337T>C	chr9.hg19:g.35708471A>G	ENSP00000316029:p.Leu1446Pro	0					TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P|TLN1_ENST00000464379.1_5'Flank	p.L1446P	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	34	4690	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.4337T>C	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284188	0.80803	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.083774	0.50627	D	0.000107	T	0.61085	0.2319	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69423	-0.5149	10	0.87932	D	0	-9.0589	14.8386	0.70206	1.0:0.0:0.0:0.0	.	1446	Q9Y490	TLN1_HUMAN	P	1446	ENSP00000316029:L1446P;ENSP00000442981:L1446P	ENSP00000316029:L1446P	L	-	2	0	0	TLN1	35698471	35698471	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.335000	0.96500	1.899000	0.54978	0.459000	0.35465	CTG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_006289			53	50		288	276	1		1	1		0	0	75	0		1	1	0	42	0	392	0	53	288
TLN1	7094	broad.mit.edu	37	9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	939					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)			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)			GGGGTAGAGGCTGCGTGCTGA	0.602																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				85						c.(2815-2817)Gcc>Ccc		talin 1							46.0	53.0	50.0					9																	35714813		2202	4300	6502	SO:0001583	missense	7094	0	0					g.chr9:35714813C>G	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.2815G>C	chr9.hg19:g.35714813C>G	ENSP00000316029:p.Ala939Pro	0					TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	p.A939P	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	22	3168	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.2815G>C	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717139	0.48622	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.45;-0.47	5.7	2.84	0.33178	5.7	2.84	0.33178	.	0.102948	0.64402	D	0.000002	T	0.63581	0.2523	L	0.60455	1.87	0.58432	D	0.999996	P	0.40398	0.716	B	0.40228	0.323	T	0.60378	-0.7275	10	0.62326	D	0.03	-5.7164	6.1779	0.20455	0.3731:0.4927:0.0:0.1343	.	939	Q9Y490	TLN1_HUMAN	P	939	ENSP00000316029:A939P;ENSP00000442981:A939P	ENSP00000316029:A939P	A	-	1	0	0	TLN1	35704813	35704813	0.557000	0.26546	0.994000	0.49952	0.622000	0.37654	1.239000	0.32719	0.329000	0.23460	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000	NM_006289			74	72		443	435	1		1	1		0	0	91	0		1	1	0	40	0	267	0	74	443
TLN1	7094	broad.mit.edu	37	9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	905					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)			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)			GCATTCTGCGCAGCTGCATTG	0.622																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2713-2715)Gcg>Acg		talin 1							74.0	79.0	77.0					9																	35715097		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35715097C>T	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.2713G>A	chr9.hg19:g.35715097C>T	ENSP00000316029:p.Ala905Thr	0					TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	p.A905T	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	21	3066	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.2713G>A	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557532	0.65425	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.58;-0.64	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.37697	1.125	0.80722	D	1	B	0.31009	0.303	B	0.32393	0.145	T	0.61431	-0.7064	10	0.34782	T	0.22	-13.5951	19.7629	0.96329	0.0:1.0:0.0:0.0	.	905	Q9Y490	TLN1_HUMAN	T	905	ENSP00000316029:A905T;ENSP00000442981:A905T	ENSP00000316029:A905T	A	-	1	0	0	TLN1	35705097	35705097	1.000000	0.71417	0.876000	0.34364	0.431000	0.31685	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	0		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_006289			112	109		526	518	1		1	1		0	0	136	0		1	1	0	73	0	251	0	112	526
TLN1	7094	broad.mit.edu	37	9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	891					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)			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)			GCTGCCTCCCGCAGCCGCTGC	0.612																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(2671-2673)Cgg>Tgg		talin 1							32.0	37.0	35.0					9																	35715139		2199	4291	6490	SO:0001583	missense	7094	1	121304	30				g.chr9:35715139G>A	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.2671C>T	chr9.hg19:g.35715139G>A	ENSP00000316029:p.Arg891Trp	0					TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	p.R891W	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	21	3024	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.2671C>T	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324828	0.81580	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71461	-0.57;-0.57	5.67	3.7	0.42460	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85871	0.1416	10	0.72032	D	0.01	-18.1456	13.4827	0.61345	0.0:0.0:0.5988:0.4011	.	891	Q9Y490	TLN1_HUMAN	W	891	ENSP00000316029:R891W;ENSP00000442981:R891W	ENSP00000316029:R891W	R	-	1	2	2	TLN1	35705139	35705139	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.674000	0.46867	1.361000	0.45981	0.561000	0.74099	CGG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	0		2	2	2	0		0	0	79		79	78	1	2.060000	-1.876805	0	0.170000	NM_006289			63	63		327	325	1		1	1		0	0	79	0		1	1	0	58	0	284	0	63	327
TLN1	7094	broad.mit.edu	37	9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	3					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)			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)			AGTGAAAGTGCAACCATGGTG	0.532																																						ENST00000314888.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(7-9)Gca>Aca		talin 1							214.0	190.0	198.0					9																	35725685		2203	4300	6503	SO:0001583	missense	7094	0	0					g.chr9:35725685C>T	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.7G>A	chr9.hg19:g.35725685C>T	ENSP00000316029:p.Ala3Thr	0					TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	p.A3T	NM_006289.3	NP_006280.3	0	0	0	1.928190	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	2	360	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	1	1	hg19	c.7G>A	CCDS35009.1	1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148616	0.57151	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.199179	0.53938	D	0.000058	T	0.59004	0.2162	L	0.27053	0.805	0.80722	D	1	B;B	0.34264	0.446;0.038	B;B	0.38327	0.271;0.024	T	0.54153	-0.8336	10	0.20519	T	0.43	-13.2392	19.48	0.95005	0.0:1.0:0.0:0.0	.	3;3	Q5TCU5;Q9Y490	.;TLN1_HUMAN	T	3	ENSP00000316029:A3T;ENSP00000442981:A3T	ENSP00000316029:A3T	A	-	1	0	0	TLN1	35715685	35715685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.025000	0.70864	2.606000	0.88127	0.655000	0.94253	GCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	228		228	226	1	2.060000	-20.000000	1	0.170000	NM_006289			164	163		941	924	1		1	1		0	0	228	0		1	1	0	16	0	176	0	164	941
GBA2	57704	broad.mit.edu	37	9	35737268	35737268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	894					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)			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)			CCTTTTTGTGCTGCTGCTGTT	0.572																																						ENST00000378103.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				21						c.(2680-2682)caG>caA		glucosidase, beta (bile acid) 2							99.0	88.0	91.0					9																	35737268		2203	4300	6503	SO:0001819	synonymous_variant	57704	0	0					g.chr9:35737268C>T	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	ENST00000378103.3:c.2682G>A	chr9.hg19:g.35737268C>T		0					GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378088.1_3'UTR	p.Q894Q	NM_020944.2	NP_065995.1	0	0	0	1.928190	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	17	3205	-	all_epithelial(49;0.167)		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	1	1	hg19	c.2682G>A	CCDS6589.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-20.000000	1	0.170000	NM_020944			72	72		423	414	0		1	1		0	0	94	0		1	9.999923e-01	0	24	0	76	0	72	423
GBA2	57704	broad.mit.edu	37	9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378103.3	-	9	2064	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000378094.4_Missense_Mutation_p.R514H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	514					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)			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)			TAGGGTGGGGCGGAGGTGACA	0.552																																						ENST00000378103.3	1.000000	0.830000	1	9.900000e-01	0.990000	0.987404	0.990000	1.000000																										0				21						c.(1540-1542)cGc>cAc		glucosidase, beta (bile acid) 2		C	HIS/ARG	0,4406		0,0,2203	74.0	62.0	66.0		1541	0.1	0.3	9	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBA2	NM_020944.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	514/928	35739666	1,13005	2203	4300	6503	SO:0001583	missense	57704	1	121412	31				g.chr9:35739666C>T	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	ENST00000378103.3:c.1541G>A	chr9.hg19:g.35739666C>T	ENSP00000367343:p.Arg514His	0					GBA2_ENST00000378094.4_Missense_Mutation_p.R514H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|GBA2_ENST00000378088.1_5'Flank	p.R514H	NM_020944.2	NP_065995.1	0	0	0	1.928190	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	9	2064	-	all_epithelial(49;0.167)		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	1	1	hg19	c.1541G>A	CCDS6589.1	1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380813	0.11466	0.0	1.16E-4	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	0.104	0.14531	5.5	0.104	0.14531	Six-hairpin glycosidase-like (1);	0.226574	0.44688	N	0.000428	T	0.16981	0.0408	L	0.36672	1.1	0.19300	N	0.999976	B;D;B	0.55385	0.002;0.971;0.001	B;B;B	0.41571	0.001;0.36;0.0	T	0.16012	-1.0417	9	0.41790	T	0.15	-0.8058	1.4704	0.02414	0.1622:0.3204:0.1134:0.404	.	520;514;514	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	514;514;520	.	ENSP00000367334:R514H	R	-	2	0	0	GBA2	35729666	35729666	0.635000	0.27199	0.295000	0.24960	0.003000	0.03518	0.345000	0.19979	0.081000	0.16988	-1.242000	0.01536	CGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_020944			23	23		181	175	1		1	1		0	0	55	0		9.999994e-01	9.924094e-01	0	16	0	48	0	23	181
GBA2	57704	broad.mit.edu	37	9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378103.3	-	5	1524	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000378094.4_Missense_Mutation_p.T334M|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	334					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)			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)			CACAGCCATCGTGTAGGGGTT	0.602																																						ENST00000378103.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1000-1002)aCg>aTg		glucosidase, beta (bile acid) 2							85.0	79.0	81.0					9																	35740847		2203	4300	6503	SO:0001583	missense	57704	0	0					g.chr9:35740847G>A	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	ENST00000378103.3:c.1001C>T	chr9.hg19:g.35740847G>A	ENSP00000367343:p.Thr334Met	0					GBA2_ENST00000378094.4_Missense_Mutation_p.T334M|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|GBA2_ENST00000378088.1_5'Flank	p.T334M	NM_020944.2	NP_065995.1	0	0	0	1.928190	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	5	1524	-	all_epithelial(49;0.167)		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	1	1	hg19	c.1001C>T	CCDS6589.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.91196	3.185	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	0.87969	0.2735	9	0.59425	D	0.04	-14.4858	20.0787	0.97763	0.0:0.0:1.0:0.0	.	340;334;334	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	M	334;334;340	.	ENSP00000367334:T334M	T	-	2	0	0	GBA2	35730847	35730847	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.800000	0.85949	2.757000	0.94681	0.462000	0.41574	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1		2	2	2	0		0	0	73		73	72	1	2.060000	-20.000000	1	0.170000	NM_020944			69	67		268	258	1		1	1		0	0	73	0		1	9.993325e-01	0	7	0	38	0	69	268
GBA2	57704	broad.mit.edu	37	9	35741771	35741771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378103.3	-	4	1207	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000378094.4_Silent_p.Y228Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	228					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)			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)			AGAGGGCATGGTAGAAAGCAA	0.592																																						ENST00000378103.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(682-684)taC>taT		glucosidase, beta (bile acid) 2							129.0	121.0	124.0					9																	35741771		2203	4300	6503	SO:0001819	synonymous_variant	57704	0	0					g.chr9:35741771G>A	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	ENST00000378103.3:c.684C>T	chr9.hg19:g.35741771G>A		0					GBA2_ENST00000378094.4_Silent_p.Y228Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y	p.Y228Y	NM_020944.2	NP_065995.1	0	0	0	1.928190	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	4	1207	-	all_epithelial(49;0.167)		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	1	1	hg19	c.684C>T	CCDS6589.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_020944			105	103		472	455	1		1	1		0	0	107	0		1	9.997418e-01	0	3	0	53	0	105	472
NPR2	4882	broad.mit.edu	37	9	35792966	35792966	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	187					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)			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)	TCGAGGGCGTCTTTGAGGCCC	0.627																																						ENST00000342694.2	0.790000	0.350000	6.700000e-01	4.400000e-01	0.540000	0.561557	0.540000	0.530000																										0				45						c.(559-561)gtC>gtA		natriuretic peptide receptor 2	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						65.0	62.0	63.0					9																	35792966		2203	4300	6503	SO:0001819	synonymous_variant	4882	0	0					g.chr9:35792966C>A	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.561C>A	chr9.hg19:g.35792966C>A		0						p.V187V	NM_003995.3	NP_003986.2	0	0	0	1.928190	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)	1	816	+	all_epithelial(49;0.161)		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	1	1	hg19	c.561C>A	CCDS6590.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-4.987640	1	0.170000				21	20		416	409	0		1	0		0	0	87	0		9.999972e-01	4.747740e-01	0	0	0	32	0	21	416
NPR2	4882	broad.mit.edu	37	9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	ACGTCTATAGCTTTGGGATCA	0.547																																						ENST00000342694.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(2125-2127)agC>agA		natriuretic peptide receptor 2	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						86.0	88.0	88.0					9																	35805906		2203	4300	6503	SO:0001583	missense	4882	1	121412	31				g.chr9:35805906C>A	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.2127C>A	chr9.hg19:g.35805906C>A	ENSP00000341083:p.Ser709Arg	0						p.S709R	NM_003995.3	NP_003986.2	0	0	0	1.928190	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)	14	2382	+	all_epithelial(49;0.161)		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	1	1	hg19	c.2127C>A	CCDS6590.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816902|2.816902	0.50633|0.50633	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.78364	.|-1.17	5.82|5.82	2.0|2.0	0.26442|0.26442	5.82|5.82	2.0|2.0	0.26442|0.26442	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000072	D|D	0.92430|0.92430	0.7597|0.7597	H|H	0.99634|0.99634	4.67|4.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.91015|0.91015	0.4853|0.4853	5|10	.|0.72032	.|D	.|0.01	.|.	9.6933|9.6933	0.40143|0.40143	0.0:0.7216:0.0:0.2784|0.0:0.7216:0.0:0.2784	.|.	.|709;709	.|P20594-2;P20594	.|.;ANPRB_HUMAN	D|R	56|709	.|ENSP00000341083:S709R	.|ENSP00000341083:S709R	A|S	+|+	2|3	0|2	0|2	NPR2|NPR2	35795906|35795906	35795906|35795906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	2.596000|2.596000	0.46205|0.46205	0.113000|0.113000	0.18004|0.18004	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000				71	70		355	351	1		1	0		0	0	89	0		1	9.679807e-01	0	1	0	29	0	71	355
TMEM8B	51754	broad.mit.edu	37	9	35842555	35842555	+	Silent	SNP	G	G	A	rs548793454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377991.4	+	7	1135	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000377988.2_Silent_p.P40P	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	40					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0					ENST00000377991.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				7						c.(118-120)ccG>ccA		transmembrane protein 8B							84.0	67.0	73.0					9																	35842555		2203	4300	6503	SO:0001819	synonymous_variant	51754	2	121412	33				g.chr9:35842555G>A	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.120G>A	chr9.hg19:g.35842555G>A		0					TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000377988.2_Silent_p.P40P	p.P40P	NM_001042589.2	NP_001036054.1	0	0	0	1.928190	A6NDV4	TMM8B_HUMAN		7	1135	+			B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	1	1	hg19	c.120G>A	CCDS43800.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_016446			42	42		211	201	1		1	1		0	0	56	0		1	9.915063e-01	0	10	0	30	0	42	211
OR13J1	392309	broad.mit.edu	37	9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCACAGACAGCAAAGGAG	0.607																																						ENST00000377981.2	0.640000	0.190000	5.100000e-01	2.700000e-01	0.380000	0.399081	0.380000	0.360000																										0				6						c.(286-288)Gtc>Atc		olfactory receptor, family 13, subfamily J, member 1							117.0	112.0	114.0					9																	35870113		2203	4300	6503	SO:0001583	missense	392309	0	0					g.chr9:35870113C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.286G>A	chr9.hg19:g.35870113C>T	ENSP00000367219:p.Val96Ile	0						p.V96I	NM_001004487.1	NP_001004487.1	0	0	0	1.928190	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)	1	348	-	all_epithelial(49;0.169)		B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	1	1	hg19	c.286G>A	CCDS35011.1	0	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068871	0.36470	.	.	ENSG00000168828	ENST00000377981	T	0.03004	4.08	4.68	4.68	0.58851	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.106709	0.41823	D	0.000803	T	0.03136	0.0092	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.33574	-0.9863	10	0.87932	D	0	.	9.0204	0.36195	0.0:0.9037:0.0:0.0963	.	96	Q8NGT2	O13J1_HUMAN	I	96	ENSP00000367219:V96I	ENSP00000367219:V96I	V	-	1	0	0	OR13J1	35860113	35860113	0.002000	0.14202	0.211000	0.23655	0.814000	0.46013	1.811000	0.38942	2.890000	0.99128	0.650000	0.86243	GTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1	0	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-3.724916	1	0.170000				10	10		295	292	0		1	0		0	0	69	0		9.968541e-01	0	0	0	0	1	0	10	295
OR2S2	56656	broad.mit.edu	37	9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	314					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)			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)			GAAGCCTTTTGGTCTCAGCAG	0.502																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(940-942)cCa>cTa		olfactory receptor, family 2, subfamily S, member 2							79.0	76.0	77.0					9																	35957155		2203	4299	6502	SO:0001583	missense	56656	0	0					g.chr9:35957155G>A	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.941C>T	chr9.hg19:g.35957155G>A	ENSP00000344040:p.Pro314Leu	0						p.P314L	NM_019897.2	NP_063950.2	0	0	0	1.928190	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)	1	996	-			Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	1	1	hg19	c.941C>T	CCDS6596.2	1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354899	0.24512	.	.	ENSG00000122718	ENST00000341959	T	0.36520	1.25	3.94	-3.85	0.04243	3.94	-3.85	0.04243	.	1.656080	0.03819	N	0.267279	T	0.17023	0.0409	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.72032	D	0.01	.	2.3083	0.04180	0.1374:0.4289:0.1723:0.2615	.	314	Q9NQN1	OR2S1_HUMAN	L	314	ENSP00000344040:P314L	ENSP00000344040:P314L	P	-	2	0	0	OR2S2	35947155	35947155	0.022000	0.18835	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.723000	0.04915	-0.142000	0.14014	CCA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-3.220642	1	0.170000	NM_019897			87	84		330	325	1		1			0	0	94	0		1	0	0	0	0	0	0	87	330
RECK	8434	broad.mit.edu	37	9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	469					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)			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)			ATGATCTGAAGAATTGTATAC	0.343																																						ENST00000377966.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999957	0.990000	1.000000																										0				32						c.(1405-1407)aaG>aaT		reversion-inducing-cysteine-rich protein with kazal motifs							133.0	137.0	135.0					9																	36102199		2203	4300	6503	SO:0001583	missense	8434	0	0					g.chr9:36102199G>T	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.1407G>T	chr9.hg19:g.36102199G>T	ENSP00000367202:p.Lys469Asn	0						p.K469N	NM_021111.2	NP_066934.1	0	0	0	1.928190	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)	12	1973	+			B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	1	1	hg19	c.1407G>T	CCDS6597.1	1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468555	0.26335	.	.	ENSG00000122707	ENST00000377966	T	0.44083	0.93	5.46	1.39	0.22231	5.46	1.39	0.22231	.	0.168614	0.51477	D	0.000085	T	0.19485	0.0468	N	0.08118	0	0.27323	N	0.956981	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.29301	T	0.29	-12.8255	8.0352	0.30488	0.4452:0.0:0.5548:0.0	.	469;469	A8K9D8;O95980	.;RECK_HUMAN	N	469	ENSP00000367202:K469N	ENSP00000367202:K469N	K	+	3	2	2	RECK	36092199	36092199	0.997000	0.39634	0.687000	0.30102	0.994000	0.84299	0.863000	0.27913	0.058000	0.16222	0.655000	0.94253	AAG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-19.999810	1	0.170000				54	54		339	334	1		1	0		0	0	85	0		1	9.356535e-01	0	0	0	31	0	54	339
RECK	8434	broad.mit.edu	37	9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	799					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)			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)			GCACAGCTCCGTCGCCGAGTG	0.602																																						ENST00000377966.3	0.940000	0.370000	7.900000e-01	4.800000e-01	0.620000	0.642222	0.620000	0.610000																										0				32						c.(2395-2397)Gtc>Atc		reversion-inducing-cysteine-rich protein with kazal motifs							85.0	77.0	80.0					9																	36118895		2203	4300	6503	SO:0001583	missense	8434	4	121410	39				g.chr9:36118895G>A	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.2395G>A	chr9.hg19:g.36118895G>A	ENSP00000367202:p.Val799Ile	0						p.V799I	NM_021111.2	NP_066934.1	0	0	0	1.928190	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)	18	2961	+			B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	1	1	hg19	c.2395G>A	CCDS6597.1	0	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122028	0.08931	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.43	3.24	0.37175	5.43	3.24	0.37175	.	0.428349	0.23164	N	0.051203	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.12156	0.007;0.007	T	0.11275	-1.0594	10	0.21540	T	0.41	-5.8041	7.5195	0.27620	0.0:0.2918:0.4891:0.219	.	799;799	A8K9D8;O95980	.;RECK_HUMAN	I	799	ENSP00000367202:V799I	ENSP00000367202:V799I	V	+	1	0	0	RECK	36108895	36108895	0.665000	0.27466	0.017000	0.16124	0.059000	0.15707	1.935000	0.40173	1.388000	0.46506	0.655000	0.94253	GTC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-18.270890	1	0.170000				16	17		276	270	0		1	0		0	0	59	0		9.999306e-01	5.918063e-01	0	0	0	35	0	16	276
GLIPR2	152007	broad.mit.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A	rs201812895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592																																						ENST00000377960.4	1.000000	0.640000	1	8.200000e-01	0.990000	0.935138	0.990000	1.000000																										0				10						c.(145-147)aCg>aAg		GLI pathogenesis-related 2							99.0	83.0	88.0					9																	36148567		2203	4300	6503	SO:0001583	missense	152007	0	0					g.chr9:36148567C>A	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.146C>A	chr9.hg19:g.36148567C>A	ENSP00000367196:p.Thr49Lys	0					GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	p.T49K	NM_022343.2	NP_071738.1	0	0	0	1.928190	Q9H4G4	GAPR1_HUMAN		3	180	+			Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	1	1	hg19	c.146C>A	CCDS6598.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921361	0.52653	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.40476	1.03;2.56	5.61	5.61	0.85477	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	D	0.000064	T	0.46034	0.1372	L	0.39898	1.24	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.989;0.035	P;P;P;B	0.58266	0.836;0.817;0.534;0.022	T	0.22034	-1.0228	10	0.05620	T	0.96	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	K	49	ENSP00000367195:T49K;ENSP00000367196:T49K	ENSP00000367195:T49K	T	+	2	0	0	GLIPR2	36138567	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-19.999710	1	0.170000	NM_022343			17	18		167	164	1		1	1		0	0	35	0		9.999701e-01	9.999382e-01	0	3	0	165	0	17	167
CCIN	881	broad.mit.edu	37	9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A	rs548240661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	130					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		22001	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(388-390)cGt>cAt		calicin							136.0	120.0	125.0					9																	36169888		2203	4300	6503	SO:0001583	missense	881	4	121412	39				g.chr9:36169888G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.389G>A	chr9.hg19:g.36169888G>A	ENSP00000334996:p.Arg130His	0						p.R130H	NM_005893.2	NP_005884.2	0	0	0	1.928190	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)	1	500	+			Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	1	1	hg19	c.389G>A	CCDS6599.1	1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393719	0.25205	.	.	ENSG00000185972	ENST00000335119	T	0.65178	-0.14	5.54	4.63	0.57726	5.54	4.63	0.57726	.	0.253147	0.25987	N	0.027031	T	0.53142	0.1778	N	0.25647	0.755	0.31130	N	0.707876	D	0.61080	0.989	P	0.48488	0.579	T	0.60449	-0.7261	10	0.62326	D	0.03	.	9.6298	0.39772	0.0937:0.0:0.9063:0.0	.	130	Q13939	CALI_HUMAN	H	130	ENSP00000334996:R130H	ENSP00000334996:R130H	R	+	2	0	0	CCIN	36159888	36159888	0.073000	0.21202	0.988000	0.46212	0.978000	0.69477	1.988000	0.40697	2.770000	0.95276	0.563000	0.77884	CGT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	1	0	0		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_005893			78	77		423	412	1		1	0		0	0	87	0		1	0	0	0	0	1	0	78	423
GNE	10020	broad.mit.edu	37	9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000539815.1	-	10	1947	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	636	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582																																					GBM(184;106 2118 20004 35750 50727)	ENST00000539815.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1906-1908)gCg>gTg		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179.0	154.0	162.0					9																	36218206		2203	4300	6503	SO:0001583	missense	10020	3	121412	38				g.chr9:36218206G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1907C>T	chr9.hg19:g.36218206G>A	ENSP00000439155:p.Ala636Val	0					GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V	p.A636V			0	0	0	1.928190	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)	10	1947	-			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	1	1	hg19	c.1907C>T	CCDS6602.1	1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451269	0.26074	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99607	-4.8;-4.8;-4.8;-4.8;-6.27	5.58	1.28	0.21552	5.58	1.28	0.21552	.	0.439248	0.28442	N	0.015329	D	0.97312	0.9121	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.001;0.0;0.0	D	0.94247	0.7490	10	0.27785	T	0.31	-8.3537	8.5766	0.33603	0.3503:0.0:0.6497:0.0	.	526;595;667;636;562	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	636;667;631;636;608;526;562	ENSP00000367134:A636V;ENSP00000379839:A667V;ENSP00000439155:A636V;ENSP00000445117:A526V;ENSP00000414760:A562V	ENSP00000340770:A631V	A	-	2	0	0	GNE	36208206	36208206	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	0.396000	0.20867	-0.048000	0.13401	0.561000	0.74099	GCG	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	1	0	1		2	2	2	0		0	0	183		183	180	1	2.060000	-20.000000	1	0.170000	NM_005476			192	190		742	731	1		1	1		0	0	183	0		1	1	0	50	0	73	0	192	742
GNE	10020	broad.mit.edu	37	9	36229026	36229026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000539815.1	-	5	1102	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000396594.3_Silent_p.Q385Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000447283.2_Silent_p.Q354Q			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	354					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403																																					GBM(184;106 2118 20004 35750 50727)	ENST00000539815.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1060-1062)caG>caA		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179.0	178.0	178.0					9																	36229026		2203	4300	6503	SO:0001819	synonymous_variant	10020	0	0					g.chr9:36229026C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1062G>A	chr9.hg19:g.36229026C>T		0					GNE_ENST00000447283.2_Silent_p.Q354Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000396594.3_Silent_p.Q385Q	p.Q354Q			0	0	0	1.928190	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)	5	1102	-			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	1	1	hg19	c.1062G>A	CCDS6602.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	1	0	1		2	4	2	1		1	0	106		106	106	1	2.060000	-20.000000	1	0.170000	NM_005476			99	99		448	439	1		1	1		1	0	106	0		1	9.988813e-01	0	27	0	42	0	99	448
MELK	9833	broad.mit.edu	37	9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000298048.2	+	4	419	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.A79T	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	79	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)			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)			GCTAGAGACAGCCAACAAAAT	0.383																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000298048.2	0.790000	0.340000	6.700000e-01	4.300000e-01	0.540000	0.560301	0.540000	0.530000																										0				29						c.(235-237)Gcc>Acc		maternal embryonic leucine zipper kinase							162.0	142.0	149.0					9																	36589623		2203	4300	6503	SO:0001583	missense	9833	0	0					g.chr9:36589623G>A	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.235G>A	chr9.hg19:g.36589623G>A	ENSP00000298048:p.Ala79Thr	0					MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536329.1_Intron|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536860.1_Missense_Mutation_p.A79T	p.A79T	NM_014791.3	NP_055606.1	0	0	0	1.928190	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)	4	419	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	1	1	hg19	c.235G>A	CCDS6606.1	0	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634630	0.29068	.	.	ENSG00000165304	ENST00000298048;ENST00000545008;ENST00000536860;ENST00000541717;ENST00000543751	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.21	1.06	0.20224	5.21	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606548	0.18547	N	0.138023	T	0.10208	0.0250	N	0.10837	0.055	0.49582	D	0.999807	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.001;0.002	T	0.18493	-1.0335	10	0.45353	T	0.12	1.4915	0.5174	0.00605	0.2484:0.2733:0.2663:0.212	.	47;79;79;79;47;79	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	T	79;79;79;79;47	ENSP00000298048:A79T;ENSP00000445452:A79T;ENSP00000439792:A79T;ENSP00000437804:A79T;ENSP00000441596:A47T	ENSP00000298048:A79T	A	+	1	0	0	MELK	36579623	36579623	0.482000	0.25948	0.999000	0.59377	0.994000	0.84299	0.017000	0.13399	0.213000	0.20722	0.655000	0.94253	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-4.977428	1	0.170000	NM_014791			21	19		417	411	0		1	1		0	0	91	0		9.999972e-01	2.460273e-01	0	2	0	17	0	21	417
MELK	9833	broad.mit.edu	37	9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000298048.2	+	18	2124	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	647	Autoinhibitory region.|KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.				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)			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)			GACATCCTATCTAGCTGCAAG	0.458																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000298048.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				29						c.(1939-1941)tCt>tAt		maternal embryonic leucine zipper kinase							75.0	72.0	73.0					9																	36677318		2203	4300	6503	SO:0001583	missense	9833	0	0					g.chr9:36677318C>A	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.1940C>A	chr9.hg19:g.36677318C>A	ENSP00000298048:p.Ser647Tyr	0					MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y	p.S647Y	NM_014791.3	NP_055606.1	0	0	0	1.928190	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)	18	2124	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	0	1	hg19	c.1940C>A	CCDS6606.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185524	0.78677	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	5.79	5.79	0.91817	Kinase-associated KA1 (4);	0.144593	0.64402	D	0.000004	T	0.67268	0.2875	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.987;1.0;0.996;0.992	T	0.67688	-0.5606	10	0.87932	D	0	-9.3178	20.0371	0.97565	0.0:1.0:0.0:0.0	.	567;576;599;606;576;615;647	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	647;453;516;576;599;576;606;615	ENSP00000298048:S647Y;ENSP00000438226:S453Y;ENSP00000439184:S516Y;ENSP00000445452:S576Y;ENSP00000439792:S599Y;ENSP00000443550:S576Y;ENSP00000437804:S606Y;ENSP00000441596:S615Y	ENSP00000298048:S647Y	S	+	2	0	0	MELK	36667318	36667318	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.734000	0.93682	0.655000	0.94253	TCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	1		2	2	2	0		0	0	40		40	39	1	2.060000	-20.000000	1	0.170000	NM_014791			38	37		142	139	0		1	1		0	0	40	0		1	9.958915e-01	0	9	0	26	0	38	142
PAX5	5079	broad.mit.edu	37	9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	193					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|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)	p.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTGTTGGTGTCGGCGCTGGGG	0.682			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4	1.000000	0.610000	1	8.500000e-01	0.990000	0.946797	0.990000	1.000000				Dom	yes			Dom	yes		9	9p13	9p13	5079	T, Mis, D, F, S	paired box gene 5 (B-cell lineage specific activator protein)				L	L	IGH@, ETV6, PML, FOXP1, ZNF521, ELN		NHL, ALL, B-ALL	PAX5/JAK2(18)	41	Unknown(40)|Complex - insertion inframe(1)	p.?(40)|p.D193>GGTRAN(1)	haematopoietic_and_lymphoid_tissue(41)	171						c.(577-579)Gac>Aac		paired box 5							44.0	36.0	38.0					9																	37002672		2201	4298	6499	SO:0001583	missense	5079	0	0					g.chr9:37002672C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.577G>A	chr9.hg19:g.37002672C>T	ENSP00000350844:p.Asp193Asn	0					PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N	p.D193N	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	0	0	0	1.928190	Q02548	PAX5_HUMAN		5	651	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	0	1	hg19	c.577G>A	CCDS6607.1	1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352389	0.61293	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;T	0.97731	-4.02;-4.01;-4.01;-4.51;-4.5;-3.68;-1.78;-2.34;-4.5;1.27	5.15	4.24	0.50183	5.15	4.24	0.50183	.	0.522583	0.21064	N	0.080764	D	0.90494	0.7022	N	0.11313	0.125	0.49582	D	0.999801	P;P;B;B;B;P;B	0.44309	0.832;0.825;0.001;0.091;0.185;0.725;0.327	B;B;B;B;B;B;B	0.32393	0.145;0.091;0.002;0.009;0.011;0.051;0.034	D	0.90866	0.4742	10	0.02654	T	1	.	15.2869	0.73835	0.1415:0.8585:0.0:0.0	.	127;193;193;193;193;193;193	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	N	193;85;193;193;193;193;127;85;85;193;1	ENSP00000350844:D193N;ENSP00000367084:D193N;ENSP00000367083:D193N;ENSP00000429637:D193N;ENSP00000429291:D193N;ENSP00000404687:D127N;ENSP00000429359:D85N;ENSP00000429197:D85N;ENSP00000367078:D193N;ENSP00000429404:D1N	ENSP00000350844:D193N	D	-	1	0	0	PAX5	36992672	36992672	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	5.203000	0.65174	1.274000	0.44362	-0.324000	0.08512	GAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1	1	0	1		2	2	2	0		0	0	21		21	19	1	2.060000	-16.537750	1	0.170000				10	10		84	83	0		1	0		0	0	21	0		9.972542e-01	1.417526e-02	0	0	0	2	0	10	84
PAX5	5079	broad.mit.edu	37	9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|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)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTGACGCTAGGCACGGTGTC	0.567			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4	0.390000	0.180000	3.300000e-01	2.200000e-01	0.270000	0.284087	0.270000	0.270000				Dom	yes			Dom	yes		9	9p13	9p13	5079	T, Mis, D, F, S	paired box gene 5 (B-cell lineage specific activator protein)				L	L	IGH@, ETV6, PML, FOXP1, ZNF521, ELN		NHL, ALL, B-ALL	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	171						c.(388-390)cCt>cAt		paired box 5							180.0	166.0	171.0					9																	37015015		2203	4300	6503	SO:0001583	missense	5079	0	0					g.chr9:37015015G>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.389C>A	chr9.hg19:g.37015015G>T	ENSP00000350844:p.Pro130His	0					PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H	p.P130H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	0	0	0	1.928190	Q02548	PAX5_HUMAN		3	463	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	1	1	hg19	c.389C>A	CCDS6607.1	0	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922520	0.92319	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.5	5.5	0.81552	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99857	0.9933	H	0.97291	3.975	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	0.998;0.985;0.998;0.999;0.997;0.998;0.998;0.998	D	0.96755	0.9557	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130H;ENSP00000367084:P130H;ENSP00000367083:P130H;ENSP00000429637:P130H;ENSP00000429291:P130H;ENSP00000430773:P130H;ENSP00000429359:P22H;ENSP00000429197:P22H;ENSP00000412188:P130H;ENSP00000367078:P130H	ENSP00000350844:P130H	P	-	2	0	0	PAX5	37005015	37005015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1	0	0	1		2	2	2	0		0	0	253		253	247	1	2.060000	-2.611004	1	0.170000				27	26		1085	1071	0		1	0		0	0	253	0		9.999999e-01	0	0	0	0	1	0	27	1085
ZBTB5	9925	broad.mit.edu	37	9	37441319	37441319	+	Silent	SNP	C	C	T	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	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)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393																																						ENST00000307750.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(1228-1230)tcG>tcA		zinc finger and BTB domain containing 5							64.0	71.0	69.0					9																	37441319		2203	4300	6503	SO:0001819	synonymous_variant	9925	71	121410	50				g.chr9:37441319C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1230G>A	chr9.hg19:g.37441319C>T		0						p.S410S	NM_014872.2	NP_055687.1	0	0	0	1.928190	O15062	ZBTB5_HUMAN		2	1418	-				Silent	SNP	ENST00000307750.4	1	1	hg19	c.1230G>A	CCDS6610.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	1	0	1		2	2	2	0		0	0	86		86	86	1	2.060000	-3.168264	1	0.170000	NM_014872			66	66		272	267	1		1	1		0	0	86	0		1	9.979182e-01	0	14	0	27	0	66	272
FBXO10	26267	broad.mit.edu	37	9	37537896	37537896	+	Silent	SNP	G	G	A	rs573738932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37537896G>A	ENST00000432825.2	-	3	678	c.630C>T	c.(628-630)aaC>aaT	p.N210N	FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	210					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATGTGCCCGTTCTCAAAGT	0.498													g|||	1	0.000199681	0.0	0.0	5008	,	,		22045	0.001		0.0	False		,,,				2504	0.0					ENST00000432825.2	0.400000	0.120000	3.200000e-01	1.700000e-01	0.230000	0.252455	0.230000	0.230000																										0				34						c.(628-630)aaC>aaT		F-box protein 10							82.0	83.0	83.0					9																	37537896		1941	4126	6067	SO:0001819	synonymous_variant	26267	5	120878	38				g.chr9:37537896G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.630C>T	chr9.hg19:g.37537896G>A		0					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	p.N210N	NM_012166.2	NP_036298.2	0	0	0	1.928190	Q9UK96	FBX10_HUMAN		3	678	-			Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	0	1	hg19	c.630C>T	CCDS47966.1	0																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0	0	1		2	2	2	0		0	0	106		106	106	1	2.060000	-2.584992	1	0.170000				10	10		477	467	0		1	0		0	0	106	0		9.966016e-01	7.022603e-02	0	0	0	19	0	10	477
FRMPD1	22844	broad.mit.edu	37	9	37707441	37707441	+	Missense_Mutation	SNP	G	G	A	rs2296556	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37707441G>A	ENST00000539465.1	+	3	723	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A44T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	44			A -> T (in dbSNP:rs2296556).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		TGATGGGCCCGCCAGGAACCC	0.498													G|||	589	0.117612	0.0446	0.0778	5008	,	,		18973	0.3651		0.006	False		,,,				2504	0.1043					ENST00000539465.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(130-132)Gcc>Acc		FERM and PDZ domain containing 1		G	THR/ALA	170,4236	112.9+/-151.0	2,166,2035	91.0	94.0	93.0		130	-3.8	0.0	9	dbSNP_100	93	62,8538	38.3+/-94.2	0,62,4238	yes	missense	FRMPD1	NM_014907.2	58	2,228,6273	AA,AG,GG		0.7209,3.8584,1.7838	benign	44/1579	37707441	232,12774	2203	4300	6503	SO:0001583	missense	22844	6834	121412	70				g.chr9:37707441G>A	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.130G>A	chr9.hg19:g.37707441G>A	ENSP00000444411:p.Ala44Thr	0					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A44T|RP11-613M10.9_ENST00000540557.1_Intron	p.A44T			0	0	0	1.928190	Q5SYB0	FRPD1_HUMAN		3	723	+			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	1	0	hg19	c.130G>A	CCDS6612.1	1	264	0.12087912087912088	27	0.054878048780487805	12	0.03314917127071823	221	0.38636363636363635	4	0.005277044854881266	G	4.293	0.053558	0.08291	0.038584	0.007209	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000359927	T;T;T	0.38560	1.13;1.13;1.83	5.66	-3.77	0.04346	5.66	-3.77	0.04346	PDZ/DHR/GLGF (1);	0.757438	0.12731	N	0.443880	T	0.00012	0.0000	N	0.11427	0.14	0.54753	P	1.0999999999983245E-5	B	0.12013	0.005	B	0.06405	0.002	T	0.44159	-0.9346	9	0.41790	T	0.15	-2.5959	3.8898	0.09114	0.1038:0.285:0.4164:0.1948	rs2296556;rs52825748;rs2296556	44	Q5SYB0	FRPD1_HUMAN	T	44	ENSP00000366995:A44T;ENSP00000444411:A44T;ENSP00000439868:A44T	ENSP00000439868:A44T	A	+	1	0	0	FRMPD1	37697441	37697441	0.000000	0.05858	0.006000	0.13384	0.922000	0.55478	-0.656000	0.05342	-0.631000	0.05560	-0.798000	0.03219	GCC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	0	0	1		2	2	2	0		0	0	77		77	76	1	2.060000	-1.587338	0	0.170000	NM_014907			83	82		338	330	1		1	1		0	0	77	0		1	3.411710e-01	0	2	0	4	0	83	338
FRMPD1	22844	broad.mit.edu	37	9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	413	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		AGAGAATCCTACATTGCCCTT	0.438																																						ENST00000539465.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(1237-1239)tAc>tGc		FERM and PDZ domain containing 1							145.0	133.0	137.0					9																	37735568		2203	4300	6503	SO:0001583	missense	22844	0	0					g.chr9:37735568A>G	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.1238A>G	chr9.hg19:g.37735568A>G	ENSP00000444411:p.Tyr413Cys	0					FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C	p.Y413C			0	0	0	1.928190	Q5SYB0	FRPD1_HUMAN		13	1831	+			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	1	1	hg19	c.1238A>G	CCDS6612.1	1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818001	0.32145	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.61	0.57282	5.74	4.61	0.57282	FERM domain (1);	0.173638	0.52532	D	0.000066	T	0.09423	0.0232	L	0.36672	1.1	0.46849	D	0.99922	B;B	0.14012	0.001;0.009	B;B	0.09377	0.002;0.004	T	0.11842	-1.0571	10	0.38643	T	0.18	-9.5643	9.9939	0.41887	0.92:0.0:0.08:0.0	.	282;413	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	413;413;235;282	ENSP00000366995:Y413C;ENSP00000444411:Y413C;ENSP00000437762:Y235C;ENSP00000444804:Y282C	ENSP00000366995:Y413C	Y	+	2	0	0	FRMPD1	37725568	37725568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.011000	0.39340	0.533000	0.62120	TAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1		2	2	2	0		0	0	101		101	99	1	2.060000	-3.245814	1	0.170000	NM_014907			76	76		373	365	1		1	1		0	0	101	0		1	6.296057e-01	0	7	0	5	0	76	373
FRMPD1	22844	broad.mit.edu	37	9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		GAGTGTAGACGACGTGTGCTA	0.577																																						ENST00000539465.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				93						c.(2593-2595)Gac>Aac		FERM and PDZ domain containing 1							79.0	76.0	77.0					9																	37744622		2203	4300	6503	SO:0001583	missense	22844	0	0					g.chr9:37744622G>A	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.2593G>A	chr9.hg19:g.37744622G>A	ENSP00000444411:p.Asp865Asn	0					FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N|RP11-613M10.9_ENST00000540557.1_Intron	p.D865N			0	0	0	1.928190	Q5SYB0	FRPD1_HUMAN		16	3186	+			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	1	1	hg19	c.2593G>A	CCDS6612.1	1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146103	0.21288	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.26	1.02	0.19986	5.26	1.02	0.19986	.	0.517604	0.20831	N	0.084881	T	0.07188	0.0182	L	0.44542	1.39	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.37174	-0.9717	10	0.22109	T	0.4	-3.6729	10.0835	0.42404	0.0903:0.5934:0.3162:0.0	.	865	Q5SYB0	FRPD1_HUMAN	N	865	ENSP00000366995:D865N;ENSP00000444411:D865N	ENSP00000366995:D865N	D	+	1	0	0	FRMPD1	37734622	37734622	0.020000	0.18652	0.007000	0.13788	0.649000	0.38597	2.070000	0.41491	0.202000	0.20498	0.561000	0.74099	GAC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_014907			48	46		209	203	1		1	1		0	0	56	0		1	9.638527e-01	0	10	0	16	0	48	209
FRMPD1	22844	broad.mit.edu	37	9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	978						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		GGTTCATCTGGCCCAGATACT	0.522																																						ENST00000539465.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				93						c.(2932-2934)gGc>gAc		FERM and PDZ domain containing 1							109.0	107.0	108.0					9																	37744962		2203	4300	6503	SO:0001583	missense	22844	0	0					g.chr9:37744962G>A	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.2933G>A	chr9.hg19:g.37744962G>A	ENSP00000444411:p.Gly978Asp	0					FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D|RP11-613M10.9_ENST00000540557.1_Intron	p.G978D			0	0	0	1.928190	Q5SYB0	FRPD1_HUMAN		16	3526	+			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	1	1	hg19	c.2933G>A	CCDS6612.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806782	0.50421	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06449	3.3;3.3	5.17	-0.546	0.11840	5.17	-0.546	0.11840	.	0.984665	0.08339	N	0.961171	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.45789	-0.9237	10	0.30078	T	0.28	-4.4383	8.542	0.33399	0.4994:0.0:0.5006:0.0	.	978	Q5SYB0	FRPD1_HUMAN	D	978	ENSP00000366995:G978D;ENSP00000444411:G978D	ENSP00000366995:G978D	G	+	2	0	0	FRMPD1	37734962	37734962	0.000000	0.05858	0.007000	0.13788	0.501000	0.33797	-0.111000	0.10807	-0.025000	0.13918	0.462000	0.41574	GGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1		2	2	2	0		0	0	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_014907			131	129		538	529	1		1	1		0	0	130	0		1	9.544986e-01	0	10	0	13	0	131	538
FRMPD1	22844	broad.mit.edu	37	9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		AGACCCTCAAGGACAGAGCAG	0.493																																						ENST00000539465.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				93						c.(3547-3549)Gga>Tga		FERM and PDZ domain containing 1							58.0	62.0	61.0					9																	37745576		2203	4300	6503	SO:0001587	stop_gained	22844	0	0					g.chr9:37745576G>T	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.3547G>T	chr9.hg19:g.37745576G>T	ENSP00000444411:p.Gly1183*	0					FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*|RP11-613M10.9_ENST00000540557.1_Intron	p.G1183*			0	0	0	1.928190	Q5SYB0	FRPD1_HUMAN		16	4140	+			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	0	1	hg19	c.3547G>T	CCDS6612.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.015053	0.99318	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.33	4.44	0.53790	5.33	4.44	0.53790	.	1.221790	0.05564	N	0.569825	.	.	.	.	.	.	0.24819	N	0.992599	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0487	9.9312	0.41523	0.0939:0.0:0.9061:0.0	.	.	.	.	X	1183	.	ENSP00000366995:G1183X	G	+	1	0	0	FRMPD1	37735576	37735576	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.888000	0.28268	1.257000	0.44085	0.561000	0.74099	GGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1		2	2	2	0		0	0	97		97	97	1	2.060000	-2.970356	1	0.170000	NM_014907			59	53		329	324	1		1	1		0	0	97	0		1	9.828498e-01	0	13	0	25	0	59	329
EXOSC3	51010	broad.mit.edu	37	9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_Intron|EXOSC3_ENST00000396521.3_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	170					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423																																						ENST00000327304.5	1.000000	0.870000	1	9.900000e-01	0.990000	0.991748	0.990000	1.000000																										0				4						c.(508-510)Gct>Act		exosome component 3							81.0	76.0	78.0					9																	37782101		2203	4300	6503	SO:0001583	missense	51010	0	0					g.chr9:37782101C>T	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.508G>A	chr9.hg19:g.37782101C>T	ENSP00000323046:p.Ala170Thr	0					EXOSC3_ENST00000490516.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Intron	p.A170T	NM_016042.3	NP_057126.2	0	0	0	1.928190	Q9NQT5	EXOS3_HUMAN		3	520	-			A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	1	1	hg19	c.508G>A	CCDS35016.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.536122	0.96460	.	.	ENSG00000107371	ENST00000327304	T	0.17854	2.25	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02758	-1.1114	10	0.33940	T	0.23	-1.419	17.2324	0.86988	0.0:1.0:0.0:0.0	.	170	Q9NQT5	EXOS3_HUMAN	T	170	ENSP00000323046:A170T	ENSP00000323046:A170T	A	-	1	0	0	EXOSC3	37772101	37772101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.801000	0.85960	2.733000	0.93635	0.655000	0.94253	GCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_016042			38	37		316	312	1		1	1		0	0	84	0		1	9.978736e-01	0	19	0	61	0	38	316
SHB	6461	broad.mit.edu	37	9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	317	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592																																						ENST00000377707.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(949-951)aGc>aAc		Src homology 2 domain containing adaptor protein B							84.0	93.0	90.0					9																	37974723		2073	4182	6255	SO:0001583	missense	6461	1	121038	30				g.chr9:37974723C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.950G>A	chr9.hg19:g.37974723C>T	ENSP00000366936:p.Ser317Asn	0					RP11-613M10.9_ENST00000540557.1_3'UTR	p.S317N	NM_003028.2	NP_003019.2	0	0	0	1.928190	Q15464	SHB_HUMAN		3	1515	-		all_epithelial(88;0.122)	B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	1	1	hg19	c.950G>A	CCDS43806.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000107338	ENST00000377707	T	0.44083	0.93	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.616511	0.16287	N	0.221097	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B	0.33073	0.396	B	0.26770	0.073	T	0.08513	-1.0718	10	0.30854	T	0.27	-23.0729	17.0051	0.86391	0.0:1.0:0.0:0.0	.	317	Q15464	SHB_HUMAN	N	317	ENSP00000366936:S317N	ENSP00000366936:S317N	S	-	2	0	0	SHB	37964723	37964723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.021000	0.57196	2.620000	0.88729	0.563000	0.77884	AGC	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1	0	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000				74	73		398	390	1		1	1		0	0	85	0		1	1	0	175	0	226	0	74	398
ALDH1B1	219	broad.mit.edu	37	9	38396312	38396312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	189					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)			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)		ACTTCCCCTTGGTCATGCAGG	0.592																																						ENST00000377698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(565-567)ttG>ttA		aldehyde dehydrogenase 1 family, member B1							84.0	82.0	83.0					9																	38396312		2203	4300	6503	SO:0001819	synonymous_variant	219	0	0					g.chr9:38396312G>A	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.567G>A	chr9.hg19:g.38396312G>A		0						p.L189L	NM_000692.4	NP_000683.3	0	0	0	1.928190	P30837	AL1B1_HUMAN		2	720	+			B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	1	1	hg19	c.567G>A	CCDS6615.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1	1	0	1		2	2	2	0		0	0	104		104	103	1	2.060000	-2.995058	1	0.170000				97	97		461	457	1		1	1		0	0	104	0		1	9.999919e-01	0	18	0	63	0	97	461
CNTNAP3	79937	broad.mit.edu	37	9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	764	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		TGTCATCACAATCTGAGTGAC	0.453																																						ENST00000297668.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999966	0.990000	1.000000																										0				24						c.(2290-2292)aTt>aGt		contactin associated protein-like 3							48.0	44.0	45.0					9																	39109231		2203	4300	6503	SO:0001583	missense	79937	0	0					g.chr9:39109231A>C	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.2291T>G	chr9.hg19:g.39109231A>C	ENSP00000297668:p.Ile764Ser	0					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	p.I764S	NM_033655.3	NP_387504.2	0	0	0	1.928190	Q9BZ76	CNTP3_HUMAN		15	2364	-			B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	1	1	hg19	c.2291T>G	CCDS6616.1	1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181223	0.38511	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.16196	2.36;2.36;2.36	2.99	1.78	0.24846	2.99	1.78	0.24846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.34337	0.0894	M	0.80422	2.495	0.44603	D	0.997579	D;D;P	0.62365	0.973;0.991;0.956	P;D;P	0.66497	0.733;0.944;0.757	T	0.10567	-1.0624	9	0.23891	T	0.37	.	7.4277	0.27109	0.8056:0.0:0.0:0.1944	.	764;763;764	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	764;763;676	ENSP00000297668:I764S;ENSP00000366884:I763S;ENSP00000350863:I676S	ENSP00000297668:I764S	I	-	2	0	0	CNTNAP3	39099231	39099231	0.705000	0.27846	0.002000	0.10522	0.397000	0.30659	6.375000	0.73137	0.338000	0.23692	0.254000	0.18369	ATT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	1		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000	NM_033655			33	27		154	143	1		1			0	0	32	0		1	0	0	0	0	0	0	33	154
CNTNAP3	79937	broad.mit.edu	37	9	39133078	39133078	+	Missense_Mutation	SNP	C	C	T	rs373851232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133078C>T	ENST00000297668.6	-	13	2004	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	644	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GGGGGCACCTCGGAGGGTCAC	0.731																																						ENST00000297668.6	1.000000	0.470000	1	7.600000e-01	0.990000	0.914366	0.990000	1.000000																										0				24						c.(1930-1932)cGa>cAa		contactin associated protein-like 3		C	GLN/ARG	1,2993		0,1,1496	4.0	5.0	5.0		1931	-1.2	0.0	9		5	0,5724		0,0,2862	no	missense	CNTNAP3	NM_033655.3	43	0,1,4358	TT,TC,CC		0.0,0.0334,0.0115	benign	644/1289	39133078	1,8717	1497	2862	4359	SO:0001583	missense	79937	1	113250	25				g.chr9:39133078C>T	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.1931G>A	chr9.hg19:g.39133078C>T	ENSP00000297668:p.Arg644Gln	0					CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q	p.R644Q	NM_033655.3	NP_387504.2	0	0	0	1.928190	Q9BZ76	CNTP3_HUMAN		13	2004	-			B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	0	1	hg19	c.1931G>A	CCDS6616.1	1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729312	0.15507	3.34E-4	0.0	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	2.37	-1.18	0.09617	2.37	-1.18	0.09617	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.04452	0.0122	L	0.28274	0.84	0.09310	N	1	P;B;B;B;B	0.43352	0.804;0.055;0.108;0.259;0.011	B;B;B;B;B	0.25140	0.058;0.011;0.007;0.049;0.003	T	0.40308	-0.9570	9	0.29301	T	0.29	.	5.4154	0.16370	0.0:0.3863:0.0:0.6137	.	550;644;644;643;644	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	Q	644;643;556;550;643	ENSP00000297668:R644Q;ENSP00000366884:R643Q;ENSP00000350863:R556Q;ENSP00000320728:R550Q;ENSP00000366887:R643Q	ENSP00000297668:R644Q	R	-	2	0	0	CNTNAP3	39123078	39123078	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.094000	0.11094	-0.270000	0.09285	0.454000	0.30748	CGA	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.731	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	0		2	2	2	0		0	0	9		9	9	1	2.060000	-11.144050	1	0.170000	NM_033655			5	5		39	39	0		1			0	0	9	0		9.414011e-01	0	0	0	0	0	0	5	39
CNTNAP3	79937	broad.mit.edu	37	9	39133095	39133095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	ENST00000297668.6	-	13	1987	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	638	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		TCACCGCGTCGGGGCCACCGT	0.711																																						ENST00000297668.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999880	0.990000	1.000000																										0				24						c.(1912-1914)ccC>ccT		contactin associated protein-like 3							6.0	6.0	6.0					9																	39133095		1577	2935	4512	SO:0001819	synonymous_variant	79937	0	0					g.chr9:39133095G>A	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.1914C>T	chr9.hg19:g.39133095G>A		0					CNTNAP3_ENST00000323947.7_Silent_p.P544P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000358144.2_Silent_p.P550P	p.P638P	NM_033655.3	NP_387504.2	0	0	0	1.928190	Q9BZ76	CNTP3_HUMAN		13	1987	-			B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	0	1	hg19	c.1914C>T	CCDS6616.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.711	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	0		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_033655			16	16		30	30	0		1			0	0	10	0		9.999821e-01	0	0	0	0	0	0	16	30
CNTNAP3	79937	broad.mit.edu	37	9	39140635	39140635	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	586	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		CTCGTAGAGAGCTGTAGGAGA	0.463																																						ENST00000297668.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1756-1758)tCt>tAt		contactin associated protein-like 3							20.0	24.0	23.0					9																	39140635		2180	4274	6454	SO:0001630	splice_region_variant	79937	0	0					g.chr9:39140635G>T	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.1757-1C>A	chr9.hg19:g.39140635G>T		0					CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y	p.S586Y	NM_033655.3	NP_387504.2	0	0	0	1.928190	Q9BZ76	CNTP3_HUMAN		12	1830	-			B1AMA0|Q9C0E9	Splice_Site	SNP	ENST00000297668.6	1	0	hg19	c.1757C>A	CCDS6616.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633518|3.633518	0.67015|0.67015	.|.	.|.	ENSG00000106714|ENSG00000106714	ENST00000323947|ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T|T;T;T;T	0.79033|0.17054	-1.23|2.3;2.3;2.3;2.3	2.85|2.85	2.85|2.85	0.33270|0.33270	2.85|2.85	2.85|2.85	0.33270|0.33270	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.|.	.|.	.|.	.|.	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.90198|0.90198	3.095|3.095	0.30073|0.30073	N|N	0.809856|0.809856	D|D;D;P	0.61697|0.71674	0.99|0.989;0.998;0.604	P|P;D;B	0.60886|0.64144	0.88|0.856;0.922;0.317	T|T	0.52653|0.52653	-0.8547|-0.8547	9|9	0.66056|0.87932	D|D	0.02|0	.|.	12.7303|12.7303	0.57195|0.57195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|586;586;586	E2QRH2|Q9BZ76-2;A6NC89;Q9BZ76	.|.;.;CNTP3_HUMAN	D|Y	493|586;586;498;586	ENSP00000320728:A493D|ENSP00000297668:S586Y;ENSP00000366884:S586Y;ENSP00000350863:S498Y;ENSP00000366887:S586Y	ENSP00000320728:A493D|ENSP00000297668:S586Y	A|S	-|-	2|2	0|0	0|0	CNTNAP3|CNTNAP3	39130635|39130635	39130635|39130635	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.052000|0.052000	0.14988|0.14988	8.314000|8.314000	0.89980|0.89980	1.593000|1.593000	0.50029|0.50029	0.440000|0.440000	0.28878|0.28878	GCT|TCT	1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	1		2	2	2	0		0	0	45		45	56	1	2.060000	-20.000000	1	0.170000	NM_033655	Missense_Mutation		55	51		192	172	0		1			0	0	45	0		1	0	0	0	0	0	0	55	192
CNTNAP3	79937	broad.mit.edu	37	9	39149958	39149958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2. {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)				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)		CAGAGCCAGAGCTGTTGTCCA	0.463																																						ENST00000297668.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999318	0.990000	1.000000																										0				24						c.(1492-1494)agC>agT		contactin associated protein-like 3							24.0	26.0	25.0					9																	39149958		2202	4298	6500	SO:0001819	synonymous_variant	79937	5	121396	34				g.chr9:39149958G>A	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.1494C>T	chr9.hg19:g.39149958G>A		0					CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S	p.S498S	NM_033655.3	NP_387504.2	0	0	0	1.928190	Q9BZ76	CNTP3_HUMAN		10	1567	-			B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	1	1	hg19	c.1494C>T	CCDS6616.1	1																																																																																								1.407867e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	1		2	2	2	0		0	0	59		59	64	1	2.060000	-20.000000	1	0.170000	NM_033655			27	17		156	123	1		1	0		0	0	59	0		9.999993e-01	0	0	1	0	0	0	27	156
CBWD6	644019	broad.mit.edu	37	9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A	rs200937603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M|CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	218							ATP binding (GO:0005524)			lung(4)	4						CCTAAGTGTCGTTCTTAATTT	0.338																																						ENST00000377457.5	0.180000	0.110000	1.800000e-01	1.300000e-01	0.150000	0.179147	0.150000	0.170000																										0				4						c.(652-654)aCg>aTg		COBW domain containing 6		G	MET/THR	1,2703		0,1,1351	120.0	163.0	147.0		653	0.3	0.0	9		147	8,4634		0,8,2313	yes	missense	CBWD6	NM_001085457.1	81	0,9,3664	AA,AG,GG		0.1723,0.037,0.1225	benign	218/396	69238239	9,7337	1352	2321	3673	SO:0001583	missense	644019	82	119170	51				g.chr9:69238239G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.653C>T	chr9.hg19:g.69238239G>A	ENSP00000366677:p.Thr218Met	1					CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M|CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M	p.T218M	NM_001085457.1	NP_001078926.1	0	0	0	1.687869	Q4V339	CBWD6_HUMAN		8	758	-				Missense_Mutation	SNP	ENST00000377457.5	1	1	hg19	c.653C>T	CCDS43827.1	0	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189171	0.09547	3.7E-4	0.001723	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.42900	0.96;0.96;0.96	2.35	0.321	0.15883	2.35	0.321	0.15883	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.752267	0.13009	N	0.421042	T	0.32466	0.0830	L	0.47190	1.495	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23619	-1.0183	10	0.46703	T	0.11	-14.1278	7.2111	0.25935	0.2597:0.0:0.7403:0.0	.	218	Q4V339	CBWD6_HUMAN	M	218;182;198;218	ENSP00000366677:T218M;ENSP00000366668:T182M;ENSP00000371836:T198M	ENSP00000366664:T218M	T	-	2	0	0	CBWD6	68528059	68528059	0.086000	0.21541	0.040000	0.18447	0.263000	0.26337	0.873000	0.28052	-0.123000	0.11745	-1.109000	0.02080	ACG	1.810008e-02		TCGA-IB-7651-01A-11D-2154-08	0.338	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	0	0	0		2	2	2	0		0	0	146		146	146	1	2.060000	-2.979540	1	0.170000	XM_928822			14	13		469	454	0		1	1		0	0	146	0		9.996970e-01	7.008964e-02	0	5	0	9	0	14	469
PGM5	5239	broad.mit.edu	37	9	71098868	71098868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	461					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517																																						ENST00000396396.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(1381-1383)ggC>ggT		phosphoglucomutase 5							136.0	116.0	123.0					9																	71098868		2203	4300	6503	SO:0001819	synonymous_variant	5239	0	0					g.chr9:71098868C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1383C>T	chr9.hg19:g.71098868C>T		0						p.G461G	NM_021965.3	NP_068800.2	0	0	0	1.938587	Q15124	PGM5_HUMAN		9	1612	+			B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	1	1	hg19	c.1383C>T	CCDS6622.2	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_021965			71	71		363	359	1		1	0		0	0	92	0		1	7.915752e-01	0	0	0	17	0	71	363
PIP5K1B	8395	broad.mit.edu	37	9	71532675	71532675	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	328	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)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCCAGACACGTAAGTGCAG	0.517																																						ENST00000265382.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(982-984)aCa>aTa		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							72.0	68.0	70.0					9																	71532675		2203	4300	6503	SO:0001630	splice_region_variant	8395	0	0					g.chr9:71532675C>T	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.983+1C>T	chr9.hg19:g.71532675C>T		0					PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	p.T328I	NM_003558.2	NP_003549.1	0	0	0	1.938587	O14986	PI51B_HUMAN		9	1288	+			A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Splice_Site	SNP	ENST00000265382.3	1	0	hg19	c.983C>T	CCDS6624.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702089	0.48307	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	5.53	5.53	0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110476	0.56097	D	0.000021	T	0.36193	0.0958	M	0.66439	2.03	0.58432	D	0.999992	P	0.44877	0.845	B	0.40782	0.34	T	0.13629	-1.0502	10	0.20046	T	0.44	-10.8614	19.4619	0.94921	0.0:1.0:0.0:0.0	.	328	O14986	PI51B_HUMAN	I	328;328;328;275	ENSP00000438082:T328I;ENSP00000265382:T328I	ENSP00000265382:T328I	T	+	2	0	0	PIP5K1B	70722495	70722495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.287000	0.59001	2.592000	0.87571	0.655000	0.94253	ACA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_003558	Missense_Mutation		50	50		230	223	0		1	1		0	0	60	0		1	9.405737e-01	0	4	0	20	0	50	230
PIP5K1B	8395	broad.mit.edu	37	9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	456					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)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCCCTGGGATCCCGACACAGG	0.433																																						ENST00000265382.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1366-1368)tCc>tTc		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							249.0	202.0	218.0					9																	71555571		2203	4300	6503	SO:0001583	missense	8395	1	121412	33				g.chr9:71555571C>T	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.1367C>T	chr9.hg19:g.71555571C>T	ENSP00000265382:p.Ser456Phe	0					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	p.S456F	NM_003558.2	NP_003549.1	0	0	0	1.938587	O14986	PI51B_HUMAN		14	1672	+			A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	1	1	hg19	c.1367C>T	CCDS6624.1	1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872575	0.51695	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27890	1.67;1.64	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.172614	0.53938	D	0.000054	T	0.34483	0.0899	L	0.53249	1.67	0.50171	D	0.999853	B	0.30455	0.28	B	0.28916	0.096	T	0.05402	-1.0887	10	0.40728	T	0.16	-0.1659	20.0065	0.97435	0.0:1.0:0.0:0.0	.	456	O14986	PI51B_HUMAN	F	456;456;456;403	ENSP00000438082:S456F;ENSP00000265382:S456F	ENSP00000265382:S456F	S	+	2	0	0	PIP5K1B	70745391	70745391	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.526000	0.67116	2.731000	0.93534	0.655000	0.94253	TCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	0		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_003558			134	133		633	611	1		1	1		0	0	121	0		1	9.992940e-01	0	18	0	34	0	134	633
PIP5K1B	8395	broad.mit.edu	37	9	71555659	71555659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	485					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)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTCCTTATACGTCAATGAGC	0.473																																						ENST00000265382.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1453-1455)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							305.0	237.0	260.0					9																	71555659		2203	4300	6503	SO:0001819	synonymous_variant	8395	0	0					g.chr9:71555659C>T	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.1455C>T	chr9.hg19:g.71555659C>T		0					PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	p.Y485Y	NM_003558.2	NP_003549.1	0	0	0	1.938587	O14986	PI51B_HUMAN		14	1760	+			A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	1	1	hg19	c.1455C>T	CCDS6624.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	0		2	2	2	0		0	0	148		148	146	1	2.060000	-20.000000	1	0.170000	NM_003558			154	152		594	586	0		1	1		0	0	148	0		1	9.956310e-01	0	12	0	22	0	154	594
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	178	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)			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						GCAGGTAGCCCTGCTGGTCGA	0.632																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(532-534)caG>caT		protein kinase, cAMP-dependent, catalytic, gamma							41.0	40.0	40.0					9																	71628475		2203	4300	6503	SO:0001583	missense	5568	0	0					g.chr9:71628475C>A	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.534G>T	chr9.hg19:g.71628475C>A	ENSP00000366488:p.Gln178His	0						p.Q178H	NM_002732.3	NP_002723.2	0	0	0	1.938587	P22612	KAPCG_HUMAN		1	564	-			O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	1	1	hg19	c.534G>T	CCDS6625.1	1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296432	0.05532	.	.	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.6	-3.21	0.05140	1.6	-3.21	0.05140	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	0.29964	U	0.010749	T	0.03477	0.0100	N	0.22421	0.69	0.25935	N	0.982946	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.21014	T	0.42	.	1.4287	0.02328	0.2056:0.4383:0.203:0.1532	.	178	P22612	KAPCG_HUMAN	H	178	ENSP00000366488:Q178H	ENSP00000366488:Q178H	Q	-	3	2	2	PRKACG	70818295	70818295	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	-2.528000	0.00945	-1.501000	0.01817	-0.373000	0.07131	CAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1	1	0	0		2	2	2	0		0	0	32		32	31	1	2.060000	-20.000000	1	0.170000				38	37		114	109	1		1			0	0	32	0		1	0	0	0	0	0	0	38	114
PRKACG	5568	broad.mit.edu	37	9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T	rs371210848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	155	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)			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						AGGTACTGGACGGCCAGGACG	0.622																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				22						c.(463-465)Gtc>Atc		protein kinase, cAMP-dependent, catalytic, gamma							56.0	49.0	51.0					9																	71628546		2203	4300	6503	SO:0001583	missense	5568	0	0					g.chr9:71628546C>T	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.463G>A	chr9.hg19:g.71628546C>T	ENSP00000366488:p.Val155Ile	0						p.V155I	NM_002732.3	NP_002723.2	0	0	0	1.938587	P22612	KAPCG_HUMAN		1	493	-			O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	1	1	hg19	c.463G>A	CCDS6625.1	1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878012	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.08008	3.14	1.49	-2.77	0.05877	1.49	-2.77	0.05877	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	0.32028	U	0.006695	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.33111	-0.9881	10	0.31617	T	0.26	.	0.4807	0.00547	0.4379:0.2053:0.1547:0.2021	.	155	P22612	KAPCG_HUMAN	I	155	ENSP00000366488:V155I	ENSP00000366488:V155I	V	-	1	0	0	PRKACG	70818366	70818366	0.241000	0.23857	0.000000	0.03702	0.002000	0.02628	1.058000	0.30504	-1.715000	0.01389	-0.520000	0.04383	GTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1	1	0	0		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000				32	31		117	117	1		1			0	0	27	0		1	0	0	0	0	0	0	32	117
TJP2	9414	broad.mit.edu	37	9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AATGGAGAAACGTCAATTGTC	0.512													C|||	5	0.000998403	0.0008	0.0	5008	,	,		14140	0.0		0.004	False		,,,				2504	0.0					ENST00000377245.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999692	0.990000	1.000000																										0				35						c.(184-186)aCg>aTg		tight junction protein 2		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	91.0	95.0		116,197,278,185,185,185	5.6	0.1	9	dbSNP_134	95	24,8576	17.3+/-56.4	0,24,4276	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	81,81,81,81,81,81	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/1021,66/1158,93/1222,62/994,62/1191,62/1044	71831325	25,12981	2203	4300	6503	SO:0001583	missense	9414	179	121412	53				g.chr9:71831325C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.185C>T	chr9.hg19:g.71831325C>T	ENSP00000366453:p.Thr62Met	0					TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M	p.T62M	NM_004817.3	NP_004808.2	0	0	0	1.938587	Q9UDY2	ZO2_HUMAN		3	393	+			A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	1	0	hg19	c.185C>T	CCDS6627.1	1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	23.5	4.421998	0.83559	2.27E-4	0.002791	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	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	5.63	5.63	0.86233	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.095459	0.64402	D	0.000001	T	0.43456	0.1248	N	0.21142	0.635	0.52099	D	0.999947	D;D;P;D;P	0.89917	1.0;0.959;0.744;0.967;0.859	D;P;B;P;B	0.66351	0.943;0.639;0.129;0.754;0.259	T	0.33828	-0.9853	10	0.56958	D	0.05	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	93;66;62;62;62	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	39;39;39;62;62;62;66;93	ENSP00000392178:T39M;ENSP00000366469:T39M;ENSP00000402941:T39M;ENSP00000366453:T62M;ENSP00000345893:T62M;ENSP00000265384:T62M;ENSP00000442090:T66M;ENSP00000438262:T93M	ENSP00000265384:T62M	T	+	2	0	0	TJP2	71021145	71021145	1.000000	0.71417	0.121000	0.21740	0.327000	0.28475	4.637000	0.61346	2.805000	0.96524	0.655000	0.94253	ACG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1		2	2	2	0		0	0	59		59	57	1	2.060000	-5.327307	1	0.170000	NM_201629			41	41		269	265	1		1	1		0	0	59	0		1	9.998859e-01	0	43	0	49	0	41	269
TJP2	9414	broad.mit.edu	37	9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	642	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507																																						ENST00000377245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1924-1926)Ctg>Atg		tight junction protein 2							105.0	96.0	99.0					9																	71851087		2203	4300	6503	SO:0001583	missense	9414	0	0					g.chr9:71851087C>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1924C>A	chr9.hg19:g.71851087C>A	ENSP00000366453:p.Leu642Met	0					TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M	p.L642M	NM_004817.3	NP_004808.2	0	0	0	1.938587	Q9UDY2	ZO2_HUMAN		13	2132	+			A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	1	1	hg19	c.1924C>A	CCDS6627.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977115	0.74360	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.86;2.85;2.89	5.43	4.53	0.55603	5.43	4.53	0.55603	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000002	T	0.31482	0.0798	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.942;0.999;1.0;1.0	T	0.03060	-1.1077	10	0.45353	T	0.12	.	14.3256	0.66518	0.0:0.9285:0.0:0.0715	.	673;646;642;642;642	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	619;642;642;642;646;673	ENSP00000392178:L619M;ENSP00000366453:L642M;ENSP00000345893:L642M;ENSP00000265384:L642M;ENSP00000442090:L646M;ENSP00000438262:L673M	ENSP00000265384:L642M	L	+	1	2	2	TJP2	71040907	71040907	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.856000	0.62932	1.433000	0.47394	0.491000	0.48974	CTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_201629			64	63		299	288	1		1	1		0	0	79	0		1	1	0	90	0	117	0	64	299
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000498204.1_3'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418																																						ENST00000377245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(2644-2646)gCg>gTg		tight junction protein 2							109.0	104.0	106.0					9																	71861684		2203	4300	6503	SO:0001583	missense	9414	0	0					g.chr9:71861684C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	chr9.hg19:g.71861684C>T	ENSP00000366453:p.Ala882Val	0					TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V	p.A882V	NM_004817.3	NP_004808.2	0	0	0	1.938587	Q9UDY2	ZO2_HUMAN		18	2853	+			A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	1	1	hg19	c.2645C>T	CCDS6627.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	0	TJP2	71051504	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-3.292416	1	0.170000	NM_201629			79	79		361	354	1		1	1		0	0	100	0		1	1	0	109	0	156	0	79	361
TJP2	9414	broad.mit.edu	37	9	71863050	71863050	+	Silent	SNP	C	C	T	rs189082774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000453658.2_Silent_p.G907G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	930					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.G930G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622																																						ENST00000377245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G930G(1)	endometrium(1)	35						c.(2788-2790)ggC>ggT		tight junction protein 2							56.0	52.0	53.0					9																	71863050		2203	4300	6503	SO:0001819	synonymous_variant	9414	0	0					g.chr9:71863050C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2790C>T	chr9.hg19:g.71863050C>T		0					TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G	p.G930G	NM_004817.3	NP_004808.2	0	0	0	1.938587	Q9UDY2	ZO2_HUMAN		19	2998	+			A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	1	1	hg19	c.2790C>T	CCDS6627.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1		2	2	2	0		0	0	60		60	58	1	2.060000	-20.000000	1	0.170000	NM_201629			68	64		185	180	1		1	1		0	0	60	0		1	1	0	81	0	144	0	68	185
TJP2	9414	broad.mit.edu	37	9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552																																						ENST00000377245.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(3526-3528)Cgc>Tgc		tight junction protein 2							92.0	88.0	89.0					9																	71869243		2203	4300	6503	SO:0001583	missense	9414	0	0					g.chr9:71869243C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3526C>T	chr9.hg19:g.71869243C>T	ENSP00000366453:p.Arg1176Cys	0					TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C	p.R1176C	NM_004817.3	NP_004808.2	0	0	0	1.938587	Q9UDY2	ZO2_HUMAN		23	3734	+			A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	1	1	hg19	c.3526C>T	CCDS6627.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548194	0.45383	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18810	2.58;2.43;2.57;2.19;2.46	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.280739	0.31134	N	0.008197	T	0.43211	0.1237	L	0.57536	1.79	0.31688	N	0.642221	D;D;D;D	0.89917	0.999;0.995;1.0;0.999	P;P;D;P	0.77004	0.832;0.707;0.989;0.708	T	0.49331	-0.8951	10	0.66056	D	0.02	.	15.2602	0.73615	0.1488:0.8512:0.0:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	C	1006;1176;1029;1143;1207	ENSP00000392178:R1006C;ENSP00000366453:R1176C;ENSP00000345893:R1029C;ENSP00000442090:R1143C;ENSP00000438262:R1207C	ENSP00000345893:R1029C	R	+	1	0	0	TJP2	71059063	71059063	1.000000	0.71417	0.070000	0.20053	0.025000	0.11179	3.244000	0.51399	2.620000	0.88729	0.655000	0.94253	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000	NM_201629			92	91		320	317	1		1	1		0	0	119	0		1	1	0	98	0	171	0	92	320
APBA1	320	broad.mit.edu	37	9	72064647	72064647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	678	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478																																						ENST00000265381.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2032-2034)tcC>tcT		amyloid beta (A4) precursor protein-binding, family A, member 1							101.0	88.0	92.0					9																	72064647		2203	4300	6503	SO:0001819	synonymous_variant	320	0	0					g.chr9:72064647G>A	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.2034C>T	chr9.hg19:g.72064647G>A		0						p.S678S	NM_001163.3	NP_001154.2	0	0	0	1.938587	Q02410	APBA1_HUMAN		10	2256	-			O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	1	1	hg19	c.2034C>T	CCDS6630.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-3.301090	1	0.170000	NM_001163			84	82		348	338	1		1	0		0	0	77	0		1	4.831881e-01	0	1	0	7	0	84	348
APBA1	320	broad.mit.edu	37	9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	602	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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557																																						ENST00000265381.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999139	0.990000	1.000000																										0				37						c.(1804-1806)caG>caT		amyloid beta (A4) precursor protein-binding, family A, member 1							119.0	93.0	101.0					9																	72067200		2203	4300	6503	SO:0001583	missense	320	0	0					g.chr9:72067200C>A	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.1806G>T	chr9.hg19:g.72067200C>A	ENSP00000265381:p.Gln602His	0						p.Q602H	NM_001163.3	NP_001154.2	0	0	0	1.938587	Q02410	APBA1_HUMAN		9	2028	-			O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	1	1	hg19	c.1806G>T	CCDS6630.1	1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650194	0.67472	.	.	ENSG00000107282	ENST00000265381	T	0.21191	2.02	5.24	2.38	0.29361	5.24	2.38	0.29361	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.42120	-0.9470	10	0.87932	D	0	-15.9216	11.3888	0.49802	0.0:0.7916:0.0:0.2084	.	602	Q02410	APBA1_HUMAN	H	602	ENSP00000265381:Q602H	ENSP00000265381:Q602H	Q	-	3	2	2	APBA1	71257020	71257020	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.631000	0.46502	0.732000	0.32470	-0.726000	0.03593	CAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_001163			39	37		272	268	1		1	0		0	0	66	0		1	8.322920e-02	0	0	0	4	0	39	272
APBA1	320	broad.mit.edu	37	9	72131056	72131056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	357					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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662																																						ENST00000265381.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1069-1071)atC>atT		amyloid beta (A4) precursor protein-binding, family A, member 1							125.0	94.0	105.0					9																	72131056		2203	4300	6503	SO:0001819	synonymous_variant	320	0	0					g.chr9:72131056G>A	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.1071C>T	chr9.hg19:g.72131056G>A		0						p.I357I	NM_001163.3	NP_001154.2	0	0	0	1.938587	Q02410	APBA1_HUMAN		2	1293	-			O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	1	1	hg19	c.1071C>T	CCDS6630.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-3.078864	1	0.170000	NM_001163			84	83		448	440	1		1	0		0	0	85	0		1	6.821522e-02	0	0	0	3	0	84	448
PTAR1	375743	broad.mit.edu	37	9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000340434.4	-	5	584	c.581A>T	c.(580-582)aAc>aTc	p.N194I	PTAR1_ENST00000377200.5_Missense_Mutation_p.N115I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	194					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493																																						ENST00000340434.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(580-582)aAc>aTc		protein prenyltransferase alpha subunit repeat containing 1							119.0	111.0	114.0					9																	72347116		1969	4150	6119	SO:0001583	missense	375743	0	0					g.chr9:72347116T>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.581A>T	chr9.hg19:g.72347116T>A	ENSP00000344299:p.Asn194Ile	0					PTAR1_ENST00000377200.5_Missense_Mutation_p.N115I	p.N194I	NM_001099666.1	NP_001093136.1	0	0	0	1.938587	Q7Z6K3	PTAR1_HUMAN		5	584	-			Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	1	1	hg19	c.581A>T	CCDS47978.1	1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997356	0.93227	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	6.03	6.03	0.97812	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86704	0.1931	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	194	Q7Z6K3	PTAR1_HUMAN	I	115;194	ENSP00000366405:N115I;ENSP00000344299:N194I	ENSP00000344299:N194I	N	-	2	0	0	PTAR1	71536936	71536936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.308000	0.77769	0.533000	0.62120	AAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	1	0	1		2	2	2	0		0	0	46		46	44	1	2.060000	-20.000000	1	0.170000	NM_001099666			45	42		154	150	1		1	0		0	0	46	0		1	8.555687e-01	0	1	0	13	0	45	154
MAMDC2	256691	broad.mit.edu	37	9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	296	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTCAGTGCTCCTTACCCCAT	0.572																																						ENST00000377182.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999927	0.990000	1.000000																										0				14						c.(886-888)Cct>Tct		MAM domain containing 2							79.0	55.0	63.0					9																	72741317		2203	4300	6503	SO:0001583	missense	256691	0	0					g.chr9:72741317C>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.886C>T	chr9.hg19:g.72741317C>T	ENSP00000366387:p.Pro296Ser	0					MAMDC2-AS1_ENST00000591368.1_RNA	p.P296S	NM_153267.4	NP_694999.3	0	0	0	1.938587	Q7Z304	MAMC2_HUMAN		6	1503	+			Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	1	1	hg19	c.886C>T	CCDS6631.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497224	0.85069	.	.	ENSG00000165072	ENST00000377182	T	0.01918	4.56	6.04	6.04	0.98038	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.047761	0.85682	D	0.000000	T	0.09730	0.0239	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.44513	-0.9323	10	0.08179	T	0.78	-10.1669	20.5792	0.99380	0.0:1.0:0.0:0.0	.	296	Q7Z304	MAMC2_HUMAN	S	296	ENSP00000366387:P296S	ENSP00000366387:P296S	P	+	1	0	0	MAMDC2	71931137	71931137	1.000000	0.71417	0.491000	0.27477	0.792000	0.44763	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_153267			30	30		148	148	1		1	0		0	0	27	0		1	2.775541e-01	0	0	0	6	0	30	148
MAMDC2	256691	broad.mit.edu	37	9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	631	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATTGAATACAGCTGTGAGAGG	0.428																																						ENST00000377182.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				14						c.(1891-1893)aGc>aTc		MAM domain containing 2							61.0	60.0	60.0					9																	72833493		2203	4300	6503	SO:0001583	missense	256691	0	0					g.chr9:72833493G>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1892G>T	chr9.hg19:g.72833493G>T	ENSP00000366387:p.Ser631Ile	0					SMC5-AS1_ENST00000594708.1_RNA	p.S631I	NM_153267.4	NP_694999.3	0	0	0	1.938587	Q7Z304	MAMC2_HUMAN		12	2509	+			Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	1	1	hg19	c.1892G>T	CCDS6631.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361880	0.61403	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.32	3.45	0.39498	5.32	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.503086	0.25238	N	0.032109	T	0.06096	0.0158	M	0.69185	2.1	0.34456	D	0.701231	P	0.48294	0.908	P	0.49953	0.627	T	0.27157	-1.0082	10	0.36615	T	0.2	-16.4135	5.7393	0.18083	0.1351:0.3581:0.5068:0.0	.	631	Q7Z304	MAMC2_HUMAN	I	631	ENSP00000366387:S631I	ENSP00000366387:S631I	S	+	2	0	0	MAMDC2	72023313	72023313	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.943000	0.56621	1.387000	0.46486	0.580000	0.79431	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-20.000000	1	0.170000	NM_153267			39	38		165	159	1		1	0		0	0	54	0		1	4.060919e-01	0	0	0	7	0	39	165
SMC5	23137	broad.mit.edu	37	9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	998	Ala/Asp-rich (DA-box).				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)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGAAGTGTTTCTACCATG	0.353																																						ENST00000361138.5	0.800000	0.320000	6.700000e-01	4.200000e-01	0.530000	0.554225	0.530000	0.530000																										0				35						c.(2992-2994)gTt>gGt		structural maintenance of chromosomes 5							111.0	111.0	111.0					9																	72965133		2203	4300	6503	SO:0001583	missense	23137	0	0					g.chr9:72965133T>G	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.2993T>G	chr9.hg19:g.72965133T>G	ENSP00000354957:p.Val998Gly	0					SMC5_ENST00000471372.1_3'UTR	p.V998G	NM_015110.3	NP_055925.2	0	0	0	1.938587	Q8IY18	SMC5_HUMAN		23	3051	+			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	1	1	hg19	c.2993T>G	CCDS6632.1	0	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633552	0.87660	.	.	ENSG00000198887	ENST00000361138	T	0.69926	-0.44	6.07	6.07	0.98685	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86892	0.2049	10	0.72032	D	0.01	-20.4933	16.635	0.85050	0.0:0.0:0.0:1.0	.	998	Q8IY18	SMC5_HUMAN	G	998	ENSP00000354957:V998G	ENSP00000354957:V998G	V	+	2	0	0	SMC5	72154953	72154953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.330000	0.79161	0.477000	0.44152	GTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-18.246150	1	0.170000	NM_015110			17	17		346	340	0		1	1		0	0	96	0		9.999628e-01	8.128554e-01	0	3	0	62	0	17	346
TRPM3	80036	broad.mit.edu	37	9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.3	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1427					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)			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						GAGACATAGATGTCTATACAC	0.498																																						ENST00000377110.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				95						c.(4204-4206)Atc>Gtc		transient receptor potential cation channel, subfamily M, member 3							108.0	101.0	104.0					9																	73151789		2203	4300	6503	SO:0001583	missense	80036	0	0					g.chr9:73151789T>C	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.4204A>G	chr9.hg19:g.73151789T>C	ENSP00000366314:p.Ile1402Val	0					TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V	p.I1402V			0	0	0	1.938587	Q9HCF6	TRPM3_HUMAN		25	4447	-			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	1	1	hg19	c.4204A>G	CCDS43835.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.590243|3.590243	0.66105|0.66105	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61627	.|0.21;0.1;0.1;0.09;0.2;0.09;0.09;0.1;0.1;0.19	6.02|6.02	6.02|6.02	0.97574|0.97574	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103719	.|0.64402	.|D	.|0.000004	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.29908|0.29908	0.895|0.895	0.46356|0.46356	D|D	0.999|0.999	.|P;D;P;P;P;P;P	.|0.62365	.|0.876;0.991;0.606;0.803;0.876;0.541;0.803	.|D;D;B;P;D;B;P	.|0.72625	.|0.927;0.978;0.136;0.847;0.927;0.265;0.847	T|T	0.58662|0.58662	-0.7597|-0.7597	5|10	.|0.16896	.|T	.|0.51	-26.045|-26.045	16.5446|16.5446	0.84426|0.84426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1402;1392;1406;1264;1261;1374;1261	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	R|V	1250|1402;1274;1264;1261;1406;1261;1261;1274;1264;1429	.|ENSP00000366314:I1402V;ENSP00000366310:I1274V;ENSP00000354066:I1264V;ENSP00000366309:I1261V;ENSP00000350140:I1406V;ENSP00000386127:I1261V;ENSP00000379581:I1261V;ENSP00000379587:I1274V;ENSP00000350791:I1264V;ENSP00000389542:I1429V	.|ENSP00000350140:I1406V	H|I	-|-	2|1	0|0	0|0	TRPM3|TRPM3	72341609|72341609	72341609|72341609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.499000|7.499000	0.81566|0.81566	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAT|ATC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_206945			92	92		337	331	1		1			0	0	84	0		1	0	0	0	0	0	0	92	337
TRPM3	80036	broad.mit.edu	37	9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377111.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	947					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)			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						TCTGACATCAGAATCTATAAG	0.488																																						ENST00000377111.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				95						c.(2764-2766)Ctg>Atg		transient receptor potential cation channel, subfamily M, member 3							100.0	91.0	94.0					9																	73213583		2203	4300	6503	SO:0001583	missense	80036	0	0					g.chr9:73213583G>T	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.2764C>A	chr9.hg19:g.73213583G>T	ENSP00000366315:p.Leu922Met	0					TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M	p.L922M	NM_001007471.2	NP_001007472.2	0	0	0	1.938587	Q9HCF6	TRPM3_HUMAN		20	3007	-			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	1	1	hg19	c.2764C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620421|2.620421	0.46736|0.46736	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.17|5.17	2.11|2.11	0.27256|0.27256	5.17|5.17	2.11|2.11	0.27256|0.27256	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.39279|0.39279	0.1072|0.1072	N|N	0.17764|0.17764	0.52|0.52	0.40532|0.40532	D|D	0.980949|0.980949	D;P;D;P;P;P;D;B|.	0.89917|.	0.997;0.896;0.999;0.937;0.605;0.817;1.0;0.02|.	D;P;D;P;P;P;D;B|.	0.91635|.	0.982;0.789;0.999;0.81;0.893;0.802;0.99;0.195|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.54805|.	T|.	0.06|.	-12.4354|-12.4354	9.5748|9.5748	0.39450|0.39450	0.4221:0.0:0.5779:0.0|0.4221:0.0:0.5779:0.0	.|.	922;922;912;926;784;781;894;769|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	922;922;794;784;781;926;781;769;794;784;949|770	ENSP00000366315:L922M;ENSP00000366314:L922M;ENSP00000366310:L794M;ENSP00000354066:L784M;ENSP00000366309:L781M;ENSP00000350140:L926M;ENSP00000386127:L781M;ENSP00000379581:L769M;ENSP00000379587:L794M;ENSP00000350791:L784M;ENSP00000389542:L949M|.	ENSP00000350140:L926M|.	L|S	-|-	1|2	2|0	2|0	TRPM3|TRPM3	72403403|72403403	72403403|72403403	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.047000|2.047000	0.41269|0.41269	0.595000|0.595000	0.29777|0.29777	-0.213000|-0.213000	0.12676|0.12676	CTG|TCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	1	0	1		2	2	2	0		0	0	109		109	108	1	2.060000	-20.000000	1	0.170000	NM_206945			65	63		375	369	1		1			0	0	109	0		1	0	0	0	0	0	0	65	375
TRPM3	80036	broad.mit.edu	37	9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377111.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	812					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)			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						TGAACTCCAAGCTGAGAATTG	0.398																																						ENST00000377111.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999936	0.990000	1.000000																										0				95						c.(2359-2361)agC>agA		transient receptor potential cation channel, subfamily M, member 3							101.0	92.0	95.0					9																	73230953		2203	4300	6503	SO:0001583	missense	80036	0	0					g.chr9:73230953G>T	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.2361C>A	chr9.hg19:g.73230953G>T	ENSP00000366315:p.Ser787Arg	0					TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R	p.S787R	NM_001007471.2	NP_001007472.2	0	0	0	1.938587	Q9HCF6	TRPM3_HUMAN		17	2604	-			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	1	1	hg19	c.2361C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569346|1.569346	0.28003|0.28003	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.54|5.54	5.54|5.54	0.83059|0.83059	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.087739	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.08118|0.08118	0|0	0.42438|0.42438	D|D	0.992706|0.992706	.|B;B;P;B;B;B;B;P	.|0.40266	.|0.008;0.001;0.565;0.101;0.101;0.404;0.003;0.71	.|B;B;P;B;B;B;B;B	.|0.50490	.|0.026;0.005;0.642;0.122;0.078;0.109;0.015;0.193	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.19147	.|T	.|0.46	-23.5504|-23.5504	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|787;787;777;791;649;646;759;634	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	I|R	636|787;787;659;649;646;791;646;634;659;649;814	.|ENSP00000366315:S787R;ENSP00000366314:S787R;ENSP00000366310:S659R;ENSP00000354066:S649R;ENSP00000366309:S646R;ENSP00000350140:S791R;ENSP00000386127:S646R;ENSP00000379581:S634R;ENSP00000379587:S659R;ENSP00000350791:S649R;ENSP00000389542:S814R	.|ENSP00000350140:S791R	L|S	-|-	1|3	0|2	0|2	TRPM3|TRPM3	72420773|72420773	72420773|72420773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.250000|2.250000	0.43178|0.43178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_206945			34	34		180	179	0		1			0	0	31	0		1	0	0	0	0	0	0	34	180
TRPM3	80036	broad.mit.edu	37	9	73426137	73426137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73426137C>T	ENST00000396292.4	-	5	537	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D180N|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	333					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)			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						AAGCGGGAGTCAAGAGAGAAA	0.353																																						ENST00000396292.4	1.000000	0.650000	1	8.900000e-01	0.990000	0.957244	0.990000	1.000000																										0				95						c.(538-540)Gac>Aac		transient receptor potential cation channel, subfamily M, member 3							60.0	63.0	62.0					9																	73426137		2203	4300	6503	SO:0001583	missense	80036	0	0					g.chr9:73426137C>T	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	ENST00000396292.4:c.538G>A	chr9.hg19:g.73426137C>T	ENSP00000379587:p.Asp180Asn	0					TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000377110.3_Intron|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.D180N|TRPM3_ENST00000357533.2_Intron	p.D180N			0	0	0	1.938587	Q9HCF6	TRPM3_HUMAN		5	537	-			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000396292.4	1	1	hg19	c.538G>A	CCDS6635.1	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879218	0.33162	.	.	ENSG00000083067	ENST00000377106;ENST00000360823;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000396283	T;T;T;T;T;T	0.66460	0.56;0.55;0.56;0.55;0.6;-0.21	4.79	4.79	0.61399	4.79	4.79	0.61399	.	.	.	.	.	T	0.48995	0.1531	N	0.08118	0	0.80722	D	1	B	0.24258	0.1	B	0.28139	0.086	T	0.50311	-0.8843	9	0.56958	D	0.05	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	180	A2A3F4	.	N	180;180;180;180;335;180	ENSP00000366310:D180N;ENSP00000354066:D180N;ENSP00000379587:D180N;ENSP00000350791:D180N;ENSP00000389542:D335N;ENSP00000379579:D180N	ENSP00000350791:D180N	D	-	1	0	0	TRPM3	72615957	72615957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.987000	0.49378	2.941000	0.99782	0.655000	0.94253	GAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	1	0	1		2	2	2	0		0	0	25		25	25	1	2.060000	-7.509190	1	0.170000	NM_206945			11	10		91	89	0		1			0	0	25	0		9.983940e-01	0	0	0	0	0	0	11	91
TMEM2	23670	broad.mit.edu	37	9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	740					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		AGCAGCACTAGAGTTGGTTGT	0.378																																						ENST00000377044.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				56						c.(2218-2220)tCt>tAt		transmembrane protein 2							149.0	132.0	138.0					9																	74337391		2203	4300	6503	SO:0001583	missense	23670	0	0					g.chr9:74337391G>T		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.2219C>A	chr9.hg19:g.74337391G>T	ENSP00000366243:p.Ser740Tyr	0					TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	p.S740Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	0	0	0	1.938587	Q9UHN6	TMEM2_HUMAN		12	2758	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	1	1	hg19	c.2219C>A	CCDS6638.1	1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691561	0.68271	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.55413	0.52;0.52	5.38	5.38	0.77491	5.38	5.38	0.77491	Pectin lyase fold/virulence factor (1);	0.095821	0.64402	D	0.000001	T	0.43500	0.1250	N	0.14661	0.345	0.80722	D	1	B;B	0.26744	0.158;0.131	B;B	0.31946	0.089;0.138	T	0.44097	-0.9350	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	740;677	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	740;677	ENSP00000366243:S740Y;ENSP00000366266:S677Y	ENSP00000366243:S740Y	S	-	2	0	0	TMEM2	73527211	73527211	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.248000	0.95456	2.687000	0.91594	0.557000	0.71058	TCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.274547	1	0.170000	NM_013390			61	60		269	267	1		1	1		0	0	80	0		1	1	0	35	0	94	0	61	269
ZFAND5	7763	broad.mit.edu	37	9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	128					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378																																						ENST00000237937.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(382-384)aGt>aTt		zinc finger, AN1-type domain 5							102.0	94.0	97.0					9																	74971957		2203	4299	6502	SO:0001583	missense	7763	0	0					g.chr9:74971957C>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.383G>T	chr9.hg19:g.74971957C>A	ENSP00000237937:p.Ser128Ile	0					ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I	p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	0	0	0	1.938587	O76080	ZFAN5_HUMAN		5	940	-			A8K484	Missense_Mutation	SNP	ENST00000237937.3	1	1	hg19	c.383G>T	CCDS6642.1	1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763741	0.49574	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.274244	0.46145	D	0.000312	T	0.51686	0.1689	N	0.20986	0.625	0.41066	D	0.985415	B	0.06786	0.001	B	0.06405	0.002	T	0.41770	-0.9490	9	0.46703	T	0.11	-10.2096	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	128	O76080	ZFAN5_HUMAN	I	128;128;128;128;180	.	ENSP00000237937:S128I	S	-	2	0	0	ZFAND5	74161777	74161777	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.034000	0.64152	2.941000	0.99782	0.655000	0.94253	AGT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000				48	48		187	180	1		1	1		0	0	47	0		1	1	0	105	0	774	0	48	187
ZFAND5	7763	broad.mit.edu	37	9	74975027	74975027	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.262A>G	c.(262-264)Aga>Gga	p.R88G	ZFAND5_ENST00000376960.4_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Splice_Site_p.R88G|ZFAND5_ENST00000343431.2_Splice_Site_p.R88G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	88					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CAATCTTACCTTGATTTTTCA	0.393																																						ENST00000237937.3	0.600000	0.140000	4.600000e-01	2.200000e-01	0.320000	0.348784	0.320000	0.310000																										0				6						c.(262-264)Aga>Gga		zinc finger, AN1-type domain 5							80.0	79.0	79.0					9																	74975027		2203	4299	6502	SO:0001630	splice_region_variant	7763	0	0					g.chr9:74975027T>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.263+1A>G	chr9.hg19:g.74975027T>C		0					ZFAND5_ENST00000376962.5_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Splice_Site_p.R88G|ZFAND5_ENST00000376960.4_Splice_Site_p.R88G	p.R88G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	0	0	0	1.938587	O76080	ZFAN5_HUMAN		3	819	-			A8K484	Splice_Site	SNP	ENST00000237937.3	0	1	hg19	c.262A>G	CCDS6642.1	0	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169819	0.38315	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.424530	0.28908	N	0.013748	T	0.57636	0.2067	L	0.52573	1.65	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.53085	-0.8488	9	0.22706	T	0.39	-12.4801	16.5885	0.84745	0.0:0.0:0.0:1.0	.	88	O76080	ZFAN5_HUMAN	G	88;88;88;88;140	.	ENSP00000237937:R88G	R	-	1	2	2	ZFAND5	74164847	74164847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.784000	0.75084	2.317000	0.78254	0.460000	0.39030	AGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1	0	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-3.620993	1	0.170000		Missense_Mutation		7	7		247	242	0		1	1		0	0	57	0		9.796140e-01	9.997803e-01	0	2	0	663	0	7	247
ANXA1	301	broad.mit.edu	37	9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1	104					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACAGGTCACCTTGAGGAGGTT	0.413																																						ENST00000376911.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(310-312)cTt>cCt		annexin A1	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)						118.0	121.0	120.0					9																	75775219		2203	4300	6503	SO:0001583	missense	301	0	0					g.chr9:75775219T>C	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.311T>C	chr9.hg19:g.75775219T>C	ENSP00000366109:p.Leu104Pro	0					ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P	p.L104P			0	0	0	1.938587	P04083	ANXA1_HUMAN		4	1193	+		all_epithelial(88;2.54e-11)		Missense_Mutation	SNP	ENST00000376911.1	1	1	hg19	c.311T>C	CCDS6645.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284754	0.80803	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.92	5.92	0.95590	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.182863	0.48767	D	0.000169	T	0.32010	0.0815	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.43829	-0.9367	10	0.87932	D	0	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	104	P04083	ANXA1_HUMAN	P	104;115;104;104	ENSP00000257497:L104P;ENSP00000412489:L115P;ENSP00000414013:L104P;ENSP00000366109:L104P	ENSP00000257497:L104P	L	+	2	0	0	ANXA1	74965039	74965039	0.838000	0.29461	0.927000	0.36925	0.644000	0.38419	5.484000	0.66844	2.260000	0.74910	0.528000	0.53228	CTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_000700			81	79		382	378	1		1	1		0	0	96	0		1	1	0	214	0	909	0	81	382
RORB	6096	broad.mit.edu	37	9	77245232	77245232	+	Silent	SNP	C	C	T	rs375934653		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000396204.2	+	2	75	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RORB_ENST00000376896.3_Silent_p.G14G			Q92753	RORB_HUMAN	RAR-related orphan receptor B	25					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)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AAATTTGTGGCGATAAGTCCT	0.428																																						ENST00000396204.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999995	0.990000	1.000000																										0				12						c.(73-75)ggC>ggT		RAR-related orphan receptor B	Melatonin(DB01065)						161.0	131.0	141.0					9																	77245232		2203	4300	6503	SO:0001819	synonymous_variant	6096	5	121412	39				g.chr9:77245232C>T	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.75C>T	chr9.hg19:g.77245232C>T		0					RORB_ENST00000376896.3_Silent_p.G14G	p.G25G			0	0	0	1.938587	Q92753	RORB_HUMAN		2	75	+			Q8WX73	Silent	SNP	ENST00000396204.2	1	1	hg19	c.75C>T		1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		14	2	2	0		0	1	76		76	76	1	2.060000	-2.987471	1	0.170000				47	47		246	239	1		1	0		0	0	76	0		9.999979e-01	2.693541e-02	0	0	0	2	0	47	246
TRPM6	140803	broad.mit.edu	37	9	77354718	77354718	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354718A>G	ENST00000360774.1	-	34	5645	c.5408T>C	c.(5407-5409)gTc>gCc	p.V1803A	TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1807A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1803	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTGACAATGAAAAC	0.498																																						ENST00000360774.1	0.600000	0.280000	5.100000e-01	3.500000e-01	0.420000	0.437646	0.420000	0.420000																										0				126						c.(5407-5409)gTc>gCc		transient receptor potential cation channel, subfamily M, member 6							131.0	126.0	128.0					9																	77354718		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77354718A>G	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.5408T>C	chr9.hg19:g.77354718A>G	ENSP00000354006:p.Val1803Ala	0					TRPM6_ENST00000451710.3_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A	p.V1803A	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		34	5645	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	1	hg19	c.5408T>C	CCDS6647.1	0	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584628	0.86748	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.96	5.96	0.96718	5.96	5.96	0.96718	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.053822	0.64402	D	0.000001	T	0.14056	0.0340	N	0.17082	0.46	0.50039	D	0.999841	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.996;0.997	D;D;D;D;P;D	0.77557	0.971;0.986;0.99;0.965;0.885;0.941	T	0.09357	-1.0678	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	350;636;754;1803;1798;1798	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	A	1803;1807;758;640;1798;1798;349;1807	ENSP00000354006:V1803A;ENSP00000407341:V1807A;ENSP00000366068:V758A;ENSP00000366067:V640A;ENSP00000396672:V1798A;ENSP00000354962:V1798A;ENSP00000366060:V1807A	ENSP00000354006:V1803A	V	-	2	0	0	TRPM6	76544538	76544538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.288000	0.78691	2.285000	0.76669	0.533000	0.62120	GTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	0	0	1		18	2	2	1		1	1	135		135	135	1	2.060000	-19.999890	1	0.170000	NM_017662			27	27		696	683	0		1			1	0	135	0		9.266806e-01	0	0	0	0	0	0	27	696
TRPM6	140803	broad.mit.edu	37	9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000360774.1	-	34	5517	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1760	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502																																						ENST00000360774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(5278-5280)caG>caT		transient receptor potential cation channel, subfamily M, member 6							92.0	79.0	84.0					9																	77354846		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77354846C>A	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.5280G>T	chr9.hg19:g.77354846C>A	ENSP00000354006:p.Gln1760His	0					TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H	p.Q1760H	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		34	5517	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	1	hg19	c.5280G>T	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209622	0.79240	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.96	5.06	0.68205	5.96	5.06	0.68205	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.440036	0.27807	N	0.017768	T	0.15825	0.0381	L	0.57536	1.79	0.44985	D	0.998002	B;B;P;D;D;D	0.64830	0.415;0.415;0.886;0.99;0.971;0.994	B;B;B;P;P;P	0.54140	0.106;0.167;0.408;0.558;0.545;0.743	T	0.00045	-1.2216	10	0.56958	D	0.05	.	15.4711	0.75441	0.0:0.9331:0.0:0.0669	.	307;593;711;1760;1755;1755	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1760;1764;715;597;1755;1755;306;1764	ENSP00000354006:Q1760H;ENSP00000407341:Q1764H;ENSP00000366068:Q715H;ENSP00000366067:Q597H;ENSP00000396672:Q1755H;ENSP00000354962:Q1755H;ENSP00000366060:Q1764H	ENSP00000354006:Q1760H	Q	-	3	2	2	TRPM6	76544666	76544666	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.496000	0.35638	2.832000	0.97577	0.655000	0.94253	CAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_017662			62	60		292	285	1		1	0		0	0	60	0		1	0	0	0	0	1	0	62	292
TRPM6	140803	broad.mit.edu	37	9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000360774.1	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473																																						ENST00000360774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(4363-4365)tgG>tgA		transient receptor potential cation channel, subfamily M, member 6							110.0	110.0	110.0					9																	77377222		2203	4300	6503	SO:0001587	stop_gained	140803	0	0					g.chr9:77377222C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4365G>A	chr9.hg19:g.77377222C>T	ENSP00000354006:p.Trp1455*	0					TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*	p.W1455*	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		26	4602	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	0	1	hg19	c.4365G>A	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.921600	0.99295	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	1.045860	0.07371	N	0.885724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1455;1450;1450;1455	.	ENSP00000354006:W1455X	W	-	3	0	0	TRPM6	76567042	76567042	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	TGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	86		86	83	1	2.060000	-20.000000	1	0.170000	NM_017662			77	74		426	416	0		1			0	0	86	0		1	0	0	0	0	0	0	77	426
TRPM6	140803	broad.mit.edu	37	9	77377865	77377865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377865C>A	ENST00000360774.1	-	26	3959	c.3722G>T	c.(3721-3723)aGa>aTa	p.R1241I	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1236I|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1241I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1236I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1241I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1241					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.R1241I(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						AGAATGCTTTCTCTTGGCCAG	0.507																																						ENST00000360774.1	0.710000	0.320000	6.100000e-01	4.000000e-01	0.490000	0.512547	0.490000	0.500000																										1	Substitution - Missense(1)	p.R1241I(1)	large_intestine(1)	126						c.(3721-3723)aGa>aTa		transient receptor potential cation channel, subfamily M, member 6							103.0	102.0	103.0					9																	77377865		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77377865C>A	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.3722G>T	chr9.hg19:g.77377865C>A	ENSP00000354006:p.Arg1241Ile	0					TRPM6_ENST00000451710.3_Missense_Mutation_p.R1241I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1241I|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1236I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1236I	p.R1241I	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		26	3959	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	0	hg19	c.3722G>T	CCDS6647.1	0	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105705	0.56291	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.95	5.04	0.67666	5.95	5.04	0.67666	.	0.385921	0.31438	N	0.007644	T	0.14830	0.0358	L	0.36672	1.1	0.18873	N	0.999988	P;P;P	0.38767	0.514;0.523;0.646	B;P;B	0.46419	0.151;0.516;0.29	T	0.14476	-1.0471	10	0.87932	D	0	.	5.425	0.16421	0.0:0.4599:0.3267:0.2134	.	1241;1236;1236	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1241;1241;1236;1236;1241;904;904	ENSP00000354006:R1241I;ENSP00000407341:R1241I;ENSP00000396672:R1236I;ENSP00000354962:R1236I;ENSP00000366060:R1241I	ENSP00000309693:R904I	R	-	2	0	0	TRPM6	76567685	76567685	0.943000	0.32029	0.500000	0.27589	0.877000	0.50540	1.474000	0.35398	2.824000	0.97209	0.655000	0.94253	AGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	0		23	2	2	2		2	2	106		106	105	1	2.060000	-4.472458	1	0.170000	NM_017662			23	24		504	497	0		1			2	0	106	0		5.414233e-01	0	0	0	0	0	0	23	504
TRPM6	140803	broad.mit.edu	37	9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000360774.1	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	633					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502																																						ENST00000360774.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				126						c.(1897-1899)Gag>Aag		transient receptor potential cation channel, subfamily M, member 6							144.0	117.0	126.0					9																	77416926		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77416926C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1897G>A	chr9.hg19:g.77416926C>T	ENSP00000354006:p.Glu633Lys	0					RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K	p.E633K	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		16	2134	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	1	hg19	c.1897G>A	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.456860	0.96223	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.046451	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90977	3.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75020	0.985;0.983;0.982	D	0.91646	0.5331	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	296;633;628	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	K	633;633;628;628;633;296;296	ENSP00000354006:E633K;ENSP00000407341:E633K;ENSP00000396672:E628K;ENSP00000354962:E628K;ENSP00000366060:E633K	ENSP00000309693:E296K	E	-	1	0	0	TRPM6	76606746	76606746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.963000	0.70372	2.462000	0.83206	0.585000	0.79938	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	47		47	46	1	2.060000	-3.356407	1	0.170000	NM_017662			50	49		249	241	1		1			0	0	47	0		1	0	0	0	0	0	0	50	249
TRPM6	140803	broad.mit.edu	37	9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000360774.1	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	534					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368																																						ENST00000360774.1	1.000000	0.790000	1	9.100000e-01	0.990000	0.971019	0.990000	1.000000																										0				126						c.(1600-1602)tTc>tGc		transient receptor potential cation channel, subfamily M, member 6							261.0	248.0	252.0					9																	77422987		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77422987A>C	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.1601T>G	chr9.hg19:g.77422987A>C	ENSP00000354006:p.Phe534Cys	0					TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C	p.F534C	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		14	1838	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	1	hg19	c.1601T>G	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483220	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.04;-0.87;-0.87;-0.87	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	534;534;529	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	534;534;534;529;529;534;197;197	ENSP00000354006:F534C;ENSP00000407341:F534C;ENSP00000366068:F534C;ENSP00000396672:F529C;ENSP00000354962:F529C;ENSP00000366060:F534C	ENSP00000309693:F197C	F	-	2	0	0	TRPM6	76612807	76612807	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.202000	0.70862	0.482000	0.46254	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-13.976600	1	0.170000	NM_017662			44	43		426	419	0		1			0	0	112	0		1	0	0	0	0	0	0	44	426
TRPM6	140803	broad.mit.edu	37	9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000360774.1	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413																																						ENST00000360774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(1381-1383)Gaa>Taa		transient receptor potential cation channel, subfamily M, member 6							114.0	104.0	107.0					9																	77427277		2203	4300	6503	SO:0001587	stop_gained	140803	0	0					g.chr9:77427277C>A	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.1381G>T	chr9.hg19:g.77427277C>A	ENSP00000354006:p.Glu461*	0					TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*	p.E461*	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		12	1618	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	0	1	hg19	c.1381G>T	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.385365	0.98789	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.044112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	461;461;461;461;456;456;461;124;124	.	ENSP00000309693:E124X	E	-	1	0	0	TRPM6	76617097	76617097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-3.058860	1	0.170000	NM_017662			80	77		339	335	1		1			0	0	80	0		1	0	0	0	0	0	0	80	339
TRPM6	140803	broad.mit.edu	37	9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000360774.1	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	410					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368																																						ENST00000360774.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				126						c.(1228-1230)gaG>gaT		transient receptor potential cation channel, subfamily M, member 6							114.0	112.0	113.0					9																	77431663		2203	4300	6503	SO:0001583	missense	140803	0	0					g.chr9:77431663C>A	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.1230G>T	chr9.hg19:g.77431663C>A	ENSP00000354006:p.Glu410Asp	0					TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D	p.E410D	NM_017662.4	NP_060132.3	0	0	0	1.938587	Q9BX84	TRPM6_HUMAN		11	1467	-			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	1	1	hg19	c.1230G>T	CCDS6647.1	1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278271	0.05679	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.68	-1.39	0.08997	5.68	-1.39	0.08997	.	0.205802	0.52532	D	0.000073	T	0.24890	0.0604	N	0.02213	-0.635	0.35799	D	0.822992	B;B;B;B	0.12013	0.001;0.003;0.005;0.001	B;B;B;B	0.15484	0.002;0.002;0.013;0.008	T	0.30621	-0.9972	10	0.02654	T	1	.	0.3834	0.00398	0.1901:0.2448:0.2043:0.3608	.	410;410;410;405	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	D	410;410;410;410;405;405;410;73;73	ENSP00000354006:E410D;ENSP00000407341:E410D;ENSP00000366068:E410D;ENSP00000366067:E410D;ENSP00000396672:E405D;ENSP00000354962:E405D;ENSP00000366060:E410D	ENSP00000309693:E73D	E	-	3	2	2	TRPM6	76621483	76621483	0.992000	0.36948	1.000000	0.80357	0.813000	0.45954	0.289000	0.18957	0.127000	0.18452	-0.378000	0.06908	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_017662			68	67		339	335	1		1			0	0	74	0		1	0	0	0	0	0	0	68	339
C9orf41	138199	broad.mit.edu	37	9	77611376	77611376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77611376A>C	ENST00000376834.3	-	6	1163	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	337										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GATTTATCCAAATTCCACCTG	0.308																																						ENST00000376834.3	0.480000	0.130000	3.800000e-01	1.900000e-01	0.270000	0.295219	0.270000	0.270000																										0				17						c.(1009-1011)atT>atG		chromosome 9 open reading frame 41							77.0	79.0	78.0					9																	77611376		2203	4291	6494	SO:0001583	missense	138199	0	0					g.chr9:77611376A>C	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1011T>G	chr9.hg19:g.77611376A>C	ENSP00000366030:p.Ile337Met	0					C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	p.I337M	NM_152420.1	NP_689633.1	0	0	0	1.938587	Q8N4J0	CI041_HUMAN		6	1163	-			Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	0	1	hg19	c.1011T>G	CCDS6649.1	0	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037682	0.54896	.	.	ENSG00000156017	ENST00000376834	T	0.03889	3.77	5.67	3.19	0.36642	5.67	3.19	0.36642	N2227-like (1);	0.234938	0.42964	D	0.000638	T	0.12944	0.0314	M	0.62154	1.92	0.80722	D	1	D	0.59357	0.985	D	0.63877	0.919	T	0.01287	-1.1395	10	0.52906	T	0.07	-13.637	5.5966	0.17331	0.5278:0.0:0.0759:0.3963	.	337	Q8N4J0	CI041_HUMAN	M	337	ENSP00000366030:I337M	ENSP00000366030:I337M	I	-	3	3	3	C9orf41	76801196	76801196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.274000	0.33132	0.367000	0.24454	0.528000	0.53228	ATT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	0	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-9.254132	1	0.170000	NM_152420			9	9		370	363	0		1	1		0	0	74	0		9.938488e-01	4.306039e-01	0	3	0	54	0	9	370
C9orf41	138199	broad.mit.edu	37	9	77613623	77613623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363																																						ENST00000376834.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999899	0.990000	1.000000																										0				17						c.(799-801)gcT>gcC		chromosome 9 open reading frame 41							69.0	75.0	73.0					9																	77613623		2203	4299	6502	SO:0001819	synonymous_variant	138199	0	0					g.chr9:77613623A>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.801T>C	chr9.hg19:g.77613623A>G		0					C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	p.A267A	NM_152420.1	NP_689633.1	0	0	0	1.938587	Q8N4J0	CI041_HUMAN		5	953	-			Q7Z383|Q8N7C5	Silent	SNP	ENST00000376834.3	1	1	hg19	c.801T>C	CCDS6649.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_152420			41	40		248	241	1		1	1		0	0	55	0		1	9.937485e-01	0	13	0	37	0	41	248
PCSK5	5125	broad.mit.edu	37	9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000545128.1	+	1	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I|PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTGGGCAGTCAAAATCGC	0.637																																						ENST00000545128.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(121-123)Gtc>Atc		proprotein convertase subtilisin/kexin type 5							54.0	65.0	61.0					9																	78506218		2203	4300	6503	SO:0001583	missense	5125	0	0					g.chr9:78506218G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.121G>A	chr9.hg19:g.78506218G>A	ENSP00000446280:p.Val41Ile	0					PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I	p.V41I	NM_001190482.1	NP_001177411.1	0	0	0	1.938587	Q92824	PCSK5_HUMAN		1	659	+			F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	1	1	hg19	c.121G>A	CCDS55320.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.069113	0.93950	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	5.17	5.17	0.71159	.	.	.	.	.	T	0.63414	0.2509	M	0.80332	2.49	0.50632	D	0.999883	P;B	0.49447	0.924;0.264	P;B	0.51266	0.664;0.17	T	0.70121	-0.4959	9	0.72032	D	0.01	.	17.4482	0.87584	0.0:0.0:1.0:0.0	.	41;41	Q92824-2;B1AMG5	.;.	I	41	ENSP00000446280:V41I;ENSP00000365958:V41I;ENSP00000365943:V41I	ENSP00000365943:V41I	V	+	1	0	0	PCSK5	77696038	77696038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.471000	0.66762	2.407000	0.81776	0.561000	0.74099	GTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	165		165	158	1	2.060000	-20.000000	1	0.170000				112	109		515	505	0		1	1		0	0	165	0		1	9.840882e-01	0	13	0	19	0	112	515
PCSK5	5125	broad.mit.edu	37	9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000545128.1	+	11	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	449	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGATGGACGCAGAAGCCATG	0.507																																						ENST00000545128.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(1345-1347)gCa>gTa		proprotein convertase subtilisin/kexin type 5							160.0	135.0	144.0					9																	78771994		2203	4300	6503	SO:0001583	missense	5125	0	0					g.chr9:78771994C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1346C>T	chr9.hg19:g.78771994C>T	ENSP00000446280:p.Ala449Val	0					PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V	p.A449V	NM_001190482.1	NP_001177411.1	0	0	0	1.938587	Q92824	PCSK5_HUMAN		11	1884	+			F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	1	1	hg19	c.1346C>T	CCDS55320.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.739395	0.96873	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94909	0.8063	10	0.87932	D	0	-17.4375	19.9458	0.97181	0.0:1.0:0.0:0.0	.	449;449	Q92824-2;B1AMG5	.;.	V	449;152;449;449;449;122	ENSP00000446280:A449V;ENSP00000365958:A449V;ENSP00000365943:A449V;ENSP00000411654:A122V	ENSP00000365943:A449V	A	+	2	0	0	PCSK5	77961814	77961814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.720000	0.93068	0.591000	0.81541	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	119		119	119	1	2.060000	-20.000000	1	0.170000				111	108		415	410	1		1	1		0	0	119	0		1	9.999740e-01	0	18	0	41	0	111	415
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000545128.1	+	19	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000376752.4_Silent_p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458																																						ENST00000545128.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(2407-2409)tgC>tgT		proprotein convertase subtilisin/kexin type 5							116.0	98.0	104.0					9																	78804038		2203	4300	6503	SO:0001819	synonymous_variant	5125	0	0					g.chr9:78804038C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2409C>T	chr9.hg19:g.78804038C>T		0					PCSK5_ENST00000376752.4_Silent_p.C803C	p.C803C	NM_001190482.1	NP_001177411.1	0	0	0	1.938587	Q92824	PCSK5_HUMAN		19	2947	+			F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	1	1	hg19	c.2409C>T	CCDS55320.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	72		72	72	1	2.060000	-20.000000	1	0.170000				61	60		257	255	0		1	1		0	0	72	0		1	9.999721e-01	0	25	0	43	0	61	257
PCSK5	5125	broad.mit.edu	37	9	78947380	78947380	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	ENST00000545128.1	+	33	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1507	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCAGAGGGCTATTATGCCG	0.542																																						ENST00000545128.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999602	0.990000	1.000000																										0				55						c.(4519-4521)ggC>ggA		proprotein convertase subtilisin/kexin type 5							92.0	81.0	84.0					9																	78947380		876	1991	2867	SO:0001819	synonymous_variant	5125	0	0					g.chr9:78947380C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4521C>A	chr9.hg19:g.78947380C>A		0						p.G1507G	NM_001190482.1	NP_001177411.1	0	0	0	1.938587	Q92824	PCSK5_HUMAN		33	5059	+			F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	1	1	hg19	c.4521C>A	CCDS55320.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	54		54	52	1	2.060000	-20.000000	1	0.170000				30	30		177	173	1		1	1		0	0	54	0		1	1.634527e-01	0	4	0	1	0	30	177
PCSK5	5125	broad.mit.edu	37	9	78973444	78973444	+	Missense_Mutation	SNP	G	G	A	rs141281372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	ENST00000545128.1	+	37	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1730					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCATCCTTCGAACAAGCAAG	0.458													G|||	7	0.00139776	0.0045	0.0	5008	,	,		17970	0.0		0.001	False		,,,				2504	0.0					ENST00000545128.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				55						c.(5188-5190)cGa>cAa		proprotein convertase subtilisin/kexin type 5		G	GLN/ARG	10,1742		0,10,866	98.0	87.0	90.0		5189	-1.0	0.0	9	dbSNP_134	90	0,3982		0,0,1991	yes	missense	PCSK5	NM_001190482.1	43	0,10,2857	AA,AG,GG		0.0,0.5708,0.1744	benign	1730/1861	78973444	10,5724	876	1991	2867	SO:0001583	missense	5125	56	116402	49				g.chr9:78973444G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5189G>A	chr9.hg19:g.78973444G>A	ENSP00000446280:p.Arg1730Gln	0						p.R1730Q	NM_001190482.1	NP_001177411.1	0	0	0	1.938587	Q92824	PCSK5_HUMAN		37	5727	+			F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	1	1	hg19	c.5189G>A	CCDS55320.1	1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	8.128	0.782376	0.16189	0.005708	0.0	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.47177	0.85;1.7	5.88	-1.04	0.10068	5.88	-1.04	0.10068	.	1.053850	0.07439	N	0.896912	T	0.18882	0.0453	N	0.16307	0.4	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	8	0.11794	T	0.64	2.0E-4	5.9035	0.18980	0.3566:0.2857:0.3577:0.0	.	.	.	.	Q	1730;1460;1430	ENSP00000446280:R1730Q;ENSP00000411654:R1430Q	ENSP00000365945:R1460Q	R	+	2	0	0	PCSK5	78163264	78163264	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.025000	0.13577	-0.510000	0.06523	-0.266000	0.10368	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-3.017764	1	0.170000				48	48		188	184	1		1	1		0	0	50	0		1	5.774242e-01	0	3	0	6	0	48	188
RFK	55312	broad.mit.edu	37	9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	104					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368																																						ENST00000376736.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999886	0.990000	1.000000																										0				3						c.(310-312)aGa>aAa		riboflavin kinase	Riboflavin(DB00140)						106.0	103.0	104.0					9																	79003496		2203	4300	6503	SO:0001583	missense	55312	0	0					g.chr9:79003496C>T	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.311G>A	chr9.hg19:g.79003496C>T	ENSP00000365926:p.Arg104Lys	0					RFK_ENST00000479197.1_5'UTR	p.R104K	NM_018339.5	NP_060809.3	0	0	0	1.938587	Q969G6	RIFK_HUMAN		3	644	-			Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	1	1	hg19	c.311G>A	CCDS35044.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.302673	0.95601	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95531	0.8603	9	0.87932	D	0	-25.8219	17.6612	0.88193	0.0:1.0:0.0:0.0	.	111;104	B2RDZ2;Q969G6	.;RIFK_HUMAN	K	104;111;91	.	ENSP00000257452:R111K	R	-	2	0	0	RFK	78193316	78193316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.246000	0.74042	0.491000	0.48974	AGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-18.195690	1	0.170000	NM_018339			36	35		207	203	1		1	1		0	0	83	0		1	1	0	87	0	139	0	36	207
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458																																						ENST00000376730.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F289F(1)	large_intestine(1)	30						c.(865-867)ttC>ttT		glucosaminyl (N-acetyl) transferase 1, core 2							113.0	97.0	102.0					9																	79118164		2203	4300	6503	SO:0001819	synonymous_variant	2650	0	0					g.chr9:79118164C>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.867C>T	chr9.hg19:g.79118164C>T		0					GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F	p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	0	0	0	1.938587	Q02742	GCNT1_HUMAN		4	1350	+			Q6DJZ4	Silent	SNP	ENST00000376730.4	1	1	hg19	c.867C>T	CCDS6653.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-3.278516	1	0.170000	NM_001097634			104	103		411	405	1		1	1		0	0	93	0		1	9.999983e-01	0	21	0	56	0	104	411
PRUNE2	158471	broad.mit.edu	37	9	79253164	79253164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000376718.3	-	13	8892	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999173	0.990000	1.000000																										0				16						c.(8767-8769)gcC>gcT		prune homolog 2 (Drosophila)							72.0	67.0	68.0					9																	79253164		1568	3582	5150	SO:0001819	synonymous_variant	158471	2	120342	36				g.chr9:79253164G>A	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.8769C>T	chr9.hg19:g.79253164G>A		0					PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000443509.2_Silent_p.A172A	p.A2923A	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		13	8892	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	1	1	hg19	c.8769C>T	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105719	0.20632	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.46	-7.36	0.01417	5.46	-7.36	0.01417	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-15.8655	10.1297	0.42672	0.7359:0.0874:0.0893:0.0874	.	.	.	.	C	2248	.	.	R	-	1	0	0	PRUNE2	78442984	78442984	0.000000	0.05858	0.935000	0.37517	0.994000	0.84299	-2.106000	0.01338	-0.994000	0.03463	-0.266000	0.10368	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-2.832209	1	0.170000	NM_138818			24	24		137	137	1		1	0		0	0	55	0		9.999998e-01	7.961333e-01	0	1	0	18	0	24	137
PRUNE2	158471	broad.mit.edu	37	9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000376718.3	-	9	7643	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2507					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(7519-7521)aGc>aAc		prune homolog 2 (Drosophila)							99.0	90.0	93.0					9																	79319009		1568	3581	5149	SO:0001583	missense	158471	0	0					g.chr9:79319009C>T	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.7520G>A	chr9.hg19:g.79319009C>T	ENSP00000365908:p.Ser2507Asn	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	p.S2507N	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		9	7643	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.7520G>A	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278327	0.23307	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.76	-2.51	0.06365	5.76	-2.51	0.06365	.	1.083170	0.06998	N	0.822869	T	0.32734	0.0839	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.48119	T	0.1	-0.0214	6.4439	0.21865	0.1272:0.3784:0.0:0.4944	.	2507	Q8WUY3	PRUN2_HUMAN	N	2507;2148;2506	ENSP00000365908:S2507N;ENSP00000397425:S2148N	ENSP00000365908:S2507N	S	-	2	0	0	PRUNE2	78508829	78508829	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-0.479000	0.06567	-0.144000	0.11314	0.655000	0.94253	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_138818			74	73		351	341	1		1	0		0	0	82	0		1	2.144177e-01	0	0	0	5	0	74	351
PRUNE2	158471	broad.mit.edu	37	9	79320449	79320449	+	Silent	SNP	G	G	A	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000376718.3	-	8	6864	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_ENST00000428286.1_Silent_p.D1888D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2247					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				16						c.(6739-6741)gaC>gaT		prune homolog 2 (Drosophila)		G		1,3135		0,1,1567	59.0	55.0	56.0		6741	-8.9	0.0	9	dbSNP_127	56	4,7160		0,4,3578	no	coding-synonymous	PRUNE2	NM_015225.2		0,5,5145	AA,AG,GG		0.0558,0.0319,0.0485		2247/3089	79320449	5,10295	1568	3582	5150	SO:0001819	synonymous_variant	158471	15	120382	41				g.chr9:79320449G>A	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.6741C>T	chr9.hg19:g.79320449G>A		0					PRUNE2_ENST00000428286.1_Silent_p.D1888D	p.D2247D	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	6864	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	1	1	hg19	c.6741C>T	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217713	0.06101	3.19E-4	5.58E-4	ENSG00000106772	ENST00000426088	.	.	.	5.83	-8.89	0.00785	5.83	-8.89	0.00785	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-1.7271	4.4751	0.11731	0.5482:0.1679:0.1996:0.0843	rs41288769	.	.	.	W	1569	.	.	R	-	1	2	2	PRUNE2	78510269	78510269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.800000	0.04555	-1.221000	0.02591	-0.345000	0.07892	CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.268301	1	0.170000	NM_138818			39	39		178	173	1		1	0		0	0	40	0		1	3.403902e-02	0	0	0	2	0	39	178
PRUNE2	158471	broad.mit.edu	37	9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000376718.3	-	8	6523	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2134					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(6400-6402)Ctt>Ttt		prune homolog 2 (Drosophila)							147.0	135.0	139.0					9																	79320790		1568	3582	5150	SO:0001583	missense	158471	0	0					g.chr9:79320790G>A	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.6400C>T	chr9.hg19:g.79320790G>A	ENSP00000365908:p.Leu2134Phe	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	p.L2134F	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	6523	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.6400C>T	CCDS47982.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.566|6.566	0.472728|0.472728	0.12461|0.12461	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.81;0.8	5.88|5.88	0.462|0.462	0.16695|0.16695	5.88|5.88	0.462|0.462	0.16695|0.16695	.|.	.|1.215700	.|0.05871	.|N	.|0.624565	T|T	0.27765|0.27765	0.0683|0.0683	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	5|10	.|0.34782	.|T	.|0.22	0.4604|0.4604	1.4907|1.4907	0.02456|0.02456	0.2165:0.1181:0.3431:0.3223|0.2165:0.1181:0.3431:0.3223	.|.	.|2134	.|Q8WUY3	.|PRUN2_HUMAN	V|F	1455|2134;1775;2133	.|ENSP00000365908:L2134F;ENSP00000397425:L1775F	.|ENSP00000365908:L2134F	A|L	-|-	2|1	0|0	0|0	PRUNE2|PRUNE2	78510610|78510610	78510610|78510610	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.151000|0.151000	0.21798|0.21798	-0.644000|-0.644000	0.05415|0.05415	-0.156000|-0.156000	0.11079|0.11079	0.655000|0.655000	0.94253|0.94253	GCT|CTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	0		2	2	2	0		0	0	124		124	124	1	2.060000	-20.000000	1	0.170000	NM_138818			108	107		502	495	1		1	0		0	0	124	0		1	3.175234e-02	0	0	0	2	0	108	502
PRUNE2	158471	broad.mit.edu	37	9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000376718.3	-	8	5465	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1781					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999945	0.990000	1.000000																										0				16						c.(5341-5343)gCa>gTa		prune homolog 2 (Drosophila)							121.0	94.0	102.0					9																	79321848		1568	3582	5150	SO:0001583	missense	158471	0	0					g.chr9:79321848G>A	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.5342C>T	chr9.hg19:g.79321848G>A	ENSP00000365908:p.Ala1781Val	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	p.A1781V	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	5465	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.5342C>T	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702586	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.36	1.23	0.21249	5.36	1.23	0.21249	.	1.275240	0.05360	N	0.533570	T	0.20780	0.0500	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.22208	-1.0223	10	0.06757	T	0.87	-2.6408	4.4469	0.11602	0.2117:0.0:0.4988:0.2895	.	1781	Q8WUY3	PRUN2_HUMAN	V	1781;1422;1780	ENSP00000365908:A1781V;ENSP00000397425:A1422V	ENSP00000365908:A1781V	A	-	2	0	0	PRUNE2	78511668	78511668	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.252000	0.08806	0.736000	0.32559	0.655000	0.94253	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-17.545530	1	0.170000	NM_138818			27	24		118	115	1		1	0		0	0	44	0		1	1.684797e-01	0	0	0	4	0	27	118
PRUNE2	158471	broad.mit.edu	37	9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000376718.3	-	8	4885	c.4762A>G	c.(4762-4764)Acc>Gcc	p.T1588A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCAGTGGTAATTAGTTCA	0.408																																						ENST00000376718.3	0.810000	0.250000	6.500000e-01	3.500000e-01	0.480000	0.506419	0.480000	0.470000																										0				16						c.(4762-4764)Acc>Gcc		prune homolog 2 (Drosophila)							111.0	95.0	100.0					9																	79322428		1568	3582	5150	SO:0001583	missense	158471	0	0					g.chr9:79322428T>C	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.4762A>G	chr9.hg19:g.79322428T>C	ENSP00000365908:p.Thr1588Ala	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	p.T1588A	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	4885	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.4762A>G	CCDS47982.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419074|1.419074	0.25552|0.25552	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	5.91|5.91	-1.37|-1.37	0.09056|0.09056	5.91|5.91	-1.37|-1.37	0.09056|0.09056	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.20184|.	0.028|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.66056|.	D|.	0.02|.	-1.2138|-1.2138	2.5599|2.5599	0.04769|0.04769	0.3516:0.0676:0.1234:0.4574|0.3516:0.0676:0.1234:0.4574	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	A|C	1588;1229;1587|909	ENSP00000365908:T1588A;ENSP00000397425:T1229A|.	ENSP00000365908:T1588A|.	T|Y	-|-	1|2	0|0	0|0	PRUNE2|PRUNE2	78512248|78512248	78512248|78512248	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.860000|0.860000	0.49131|0.49131	-0.367000|-0.367000	0.07553|0.07553	0.123000|0.123000	0.18342|0.18342	-0.333000|-0.333000	0.08304|0.08304	ACC|TAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-12.492210	1	0.170000	NM_138818			10	10		230	229	0		1	0		0	0	59	0		9.969940e-01	2.244669e-03	0	0	0	2	0	10	230
PRUNE2	158471	broad.mit.edu	37	9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A	rs560492060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000376718.3	-	8	3695	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1191					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20948	0.0		0.0	False		,,,				2504	0.001					ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(3571-3573)gCc>gTc		prune homolog 2 (Drosophila)							93.0	85.0	88.0					9																	79323618		1568	3582	5150	SO:0001583	missense	158471	17	120438	42				g.chr9:79323618G>A	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.3572C>T	chr9.hg19:g.79323618G>A	ENSP00000365908:p.Ala1191Val	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	p.A1191V	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	3695	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.3572C>T	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067125	0.07273	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51574	0.7;0.71	6.08	0.994	0.19832	6.08	0.994	0.19832	.	1.282690	0.05135	N	0.493283	T	0.35189	0.0923	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1287	5.8732	0.18814	0.3438:0.0:0.537:0.1192	.	1191	Q8WUY3	PRUN2_HUMAN	V	1191;832;1190	ENSP00000365908:A1191V;ENSP00000397425:A832V	ENSP00000365908:A1191V	A	-	2	0	0	PRUNE2	78513438	78513438	0.003000	0.15002	0.009000	0.14445	0.031000	0.12232	0.395000	0.20850	0.142000	0.18901	-0.150000	0.13652	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	74		74	71	1	2.060000	-20.000000	1	0.170000	NM_138818			66	65		308	298	1		1	0		0	0	74	0		1	0	0	0	0	1	0	66	308
PRUNE2	158471	broad.mit.edu	37	9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000376718.3	-	8	2194	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	691					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				16						c.(2071-2073)Cca>Aca		prune homolog 2 (Drosophila)							45.0	42.0	43.0					9																	79325119		1568	3582	5150	SO:0001583	missense	158471	0	0					g.chr9:79325119G>T	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.2071C>A	chr9.hg19:g.79325119G>T	ENSP00000365908:p.Pro691Thr	0					PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	p.P691T	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		8	2194	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	1	hg19	c.2071C>A	CCDS47982.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-2.011002|-2.011002	0.00422|0.00422	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.21361	.|2.01;2.01	5.86|5.86	1.57|1.57	0.23409|0.23409	5.86|5.86	1.57|1.57	0.23409|0.23409	.|.	.|0.269957	.|0.26867	.|N	.|0.022094	T|T	0.10981|0.10981	0.0268|0.0268	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18967|0.18967	-1.0320|-1.0320	5|10	.|0.29301	.|T	.|0.29	-4.4713|-4.4713	1.4712|1.4712	0.02416|0.02416	0.1602:0.3388:0.2185:0.2825|0.1602:0.3388:0.2185:0.2825	.|.	.|691	.|Q8WUY3	.|PRUN2_HUMAN	D|T	12|691;332;690	.|ENSP00000365908:P691T;ENSP00000397425:P332T	.|ENSP00000365908:P691T	A|P	-|-	2|1	0|0	0|0	PRUNE2|PRUNE2	78514939|78514939	78514939|78514939	0.715000|0.715000	0.27946|0.27946	0.757000|0.757000	0.31301|0.31301	0.159000|0.159000	0.22180|0.22180	-0.008000|-0.008000	0.12788|0.12788	0.313000|0.313000	0.23062|0.23062	-1.251000|-1.251000	0.01509|0.01509	GCC|CCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_138818			28	27		114	109	1		1	0		0	0	32	0		1	1.073059e-01	0	0	0	3	0	28	114
PRUNE2	158471	broad.mit.edu	37	9	79438601	79438601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000376718.3	-	6	826	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000428286.1_De_novo_Start_InFrame	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	235					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348																																						ENST00000376718.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(703-705)Ctg>Atg		prune homolog 2 (Drosophila)							147.0	123.0	131.0					9																	79438601		2203	4300	6503	SO:0001583	missense	158471	0	0					g.chr9:79438601G>T	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.703C>A	chr9.hg19:g.79438601G>T	ENSP00000365908:p.Leu235Met	0					PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000428286.1_De_novo_Start_InFrame	p.L235M	NM_015225.2	NP_056040.2	0	0	0	1.938587	Q8WUY3	PRUN2_HUMAN		6	826	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	1	0	hg19	c.703C>A	CCDS47982.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009893	0.35415	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.49139	0.79	5.58	3.77	0.43336	5.58	3.77	0.43336	DHHA2 (1);	0.195283	0.35555	N	0.003133	T	0.58481	0.2125	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.81914	0.995;0.867	T	0.59005	-0.7535	10	0.72032	D	0.01	.	3.3472	0.07140	0.1412:0.1347:0.5853:0.1388	.	235;235	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	235;234;235	ENSP00000365908:L235M	ENSP00000365903:L235M	L	-	1	2	2	PRUNE2	78628421	78628421	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	1.101000	0.31037	0.743000	0.32719	-1.008000	0.02478	CTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_138818			81	80		351	347	1		1	0		0	0	95	0		1	0	0	0	0	1	0	81	351
FOXB2	442425	broad.mit.edu	37	9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627																																						ENST00000376708.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999939	0.990000	1.000000																										0				10						c.(88-90)Gcc>Acc		forkhead box B2							59.0	53.0	55.0					9																	79634658		2203	4300	6503	SO:0001583	missense	442425	0	0					g.chr9:79634658G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.88G>A	chr9.hg19:g.79634658G>A	ENSP00000365898:p.Ala30Thr	0						p.A30T	NM_001013735.1	NP_001013757.1	0	0	0	1.938587	Q5VYV0	FOXB2_HUMAN		1	88	+				Missense_Mutation	SNP	ENST00000376708.1	1	1	hg19	c.88G>A	CCDS35045.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629544	0.46944	.	.	ENSG00000204612	ENST00000376708	D	0.95447	-3.71	4.41	4.41	0.53225	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.367704	0.27302	N	0.019985	D	0.91838	0.7417	N	0.11818	0.18	0.37583	D	0.919881	P	0.52170	0.951	P	0.49999	0.628	D	0.93456	0.6806	10	0.52906	T	0.07	.	12.8307	0.57744	0.0:0.1646:0.8354:0.0	.	30	Q5VYV0	FOXB2_HUMAN	T	30	ENSP00000365898:A30T	ENSP00000365898:A30T	A	+	1	0	0	FOXB2	78824478	78824478	0.000000	0.05858	0.990000	0.47175	0.780000	0.44128	-0.169000	0.09911	2.177000	0.69029	0.561000	0.74099	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	0		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_001013735			30	30		145	143	1		1			0	0	40	0		1	0	0	0	0	0	0	30	145
FOXB2	442425	broad.mit.edu	37	9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607																																						ENST00000376708.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(166-168)Cgc>Tgc		forkhead box B2							77.0	69.0	72.0					9																	79634736		2203	4300	6503	SO:0001583	missense	442425	2	121410	38				g.chr9:79634736C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.166C>T	chr9.hg19:g.79634736C>T	ENSP00000365898:p.Arg56Cys	0						p.R56C	NM_001013735.1	NP_001013757.1	0	0	0	1.938587	Q5VYV0	FOXB2_HUMAN		1	166	+				Missense_Mutation	SNP	ENST00000376708.1	1	1	hg19	c.166C>T	CCDS35045.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842987	0.51057	.	.	ENSG00000204612	ENST00000376708	D	0.95588	-3.75	4.3	4.3	0.51218	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.87932	D	0	.	11.926	0.52819	0.1742:0.8258:0.0:0.0	.	56	Q5VYV0	FOXB2_HUMAN	C	56	ENSP00000365898:R56C	ENSP00000365898:R56C	R	+	1	0	0	FOXB2	78824556	78824556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.316000	0.33620	2.104000	0.64026	0.561000	0.74099	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	0		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_001013735			52	50		250	243	1		1			0	0	81	0		1	0	0	0	0	0	0	52	250
FOXB2	442425	broad.mit.edu	37	9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	169	Poly-Pro.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701																																						ENST00000376708.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998732	0.990000	1.000000																										0				10						c.(505-507)Ccg>Tcg		forkhead box B2							3.0	6.0	5.0					9																	79635075		1149	2759	3908	SO:0001583	missense	442425	0	0					g.chr9:79635075C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.505C>T	chr9.hg19:g.79635075C>T	ENSP00000365898:p.Pro169Ser	0						p.P169S	NM_001013735.1	NP_001013757.1	0	0	0	1.938587	Q5VYV0	FOXB2_HUMAN		1	505	+				Missense_Mutation	SNP	ENST00000376708.1	0	1	hg19	c.505C>T	CCDS35045.1	1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.881054	0.17467	.	.	ENSG00000204612	ENST00000376708	T	0.47869	0.83	3.04	3.04	0.35103	3.04	3.04	0.35103	.	1.888570	0.02789	N	0.121804	T	0.29749	0.0743	N	0.08118	0	0.35303	D	0.78321	.	.	.	.	.	.	T	0.25606	-1.0127	8	0.06365	T	0.9	.	11.8789	0.52562	0.0:1.0:0.0:0.0	.	169	Q5VYV0	FOXB2_HUMAN	S	169	ENSP00000365898:P169S	ENSP00000365898:P169S	P	+	1	0	0	FOXB2	78824895	78824895	0.000000	0.05858	0.983000	0.44433	0.875000	0.50365	-0.005000	0.12855	1.417000	0.47077	0.313000	0.20887	CCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-20.000000	1	0.170000	NM_001013735			17	17		82	83	0		1			0	0	8	0		9.999821e-01	0	0	0	0	0	0	17	82
VPS13A	23230	broad.mit.edu	37	9	79841408	79841408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000357409.5_Silent_p.Y417Y|VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	417					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)				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						ACAAAATTTACAAAGAAGGAG	0.318																																						ENST00000360280.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				104						c.(1249-1251)taC>taT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							79.0	85.0	83.0					9																	79841408		2203	4300	6503	SO:0001819	synonymous_variant	23230	0	0					g.chr9:79841408C>T	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.1251C>T	chr9.hg19:g.79841408C>T		0					VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y|VPS13A_ENST00000376636.3_Silent_p.Y417Y	p.Y417Y	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		15	1511	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	1	1	hg19	c.1251C>T	CCDS6655.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	56		56	56	1	2.060000	-20.000000	1	0.170000	NM_015186			42	42		229	226	1		1	1		0	0	56	0		1	6.648107e-01	0	3	0	11	0	42	229
VPS13A	23230	broad.mit.edu	37	9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	748					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)				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						GCACTTCAATTTGGAACTGTC	0.373																																						ENST00000360280.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(2242-2244)Ttg>Gtg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							230.0	222.0	225.0					9																	79867222		2203	4300	6503	SO:0001583	missense	23230	0	0					g.chr9:79867222T>G	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.2242T>G	chr9.hg19:g.79867222T>G	ENSP00000353422:p.Leu748Val	0					VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V	p.L748V	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		22	2502	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	1	1	hg19	c.2242T>G	CCDS6655.1	1	.	.	.	.	.	.	.	.	.	.	T	1.599	-0.527033	0.04141	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.46	2.52	0.30459	5.46	2.52	0.30459	.	0.372540	0.24647	N	0.036745	T	0.09686	0.0238	N	0.00760	-1.21	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.06607	-1.0817	10	0.28530	T	0.3	.	3.2004	0.06647	0.2078:0.1156:0.5499:0.1267	.	748;748;748;748	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	748	ENSP00000365821:L748V;ENSP00000365823:L748V;ENSP00000353422:L748V;ENSP00000349985:L748V	ENSP00000349985:L748V	L	+	1	2	2	VPS13A	79057042	79057042	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	1.953000	0.40352	0.625000	0.30304	-0.396000	0.06452	TTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	145		145	142	1	2.060000	-20.000000	1	0.170000	NM_015186			139	138		571	561	1		1	1		0	0	145	0		1	7.545720e-01	0	3	0	10	0	139	571
VPS13A	23230	broad.mit.edu	37	9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1123					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)				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						AAAAGAAGTTTTCAGCTTCAA	0.303																																						ENST00000360280.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(3367-3369)Ttc>Ctc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							106.0	109.0	108.0					9																	79908284		2203	4299	6502	SO:0001583	missense	23230	0	0					g.chr9:79908284T>C	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.3367T>C	chr9.hg19:g.79908284T>C	ENSP00000353422:p.Phe1123Leu	0					VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L	p.F1123L	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		32	3627	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	1	1	hg19	c.3367T>C	CCDS6655.1	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656337	0.88056	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.19;1.03;1.1;1.19	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.89917	0.924;0.998;1.0;1.0	P;D;D;D	0.91635	0.635;0.99;0.999;0.999	T	0.55062	-0.8199	10	0.15499	T	0.54	.	15.4213	0.75015	0.0:0.0:0.0:1.0	.	1084;1123;1123;1123	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1123;1084;1123;1123	ENSP00000365821:F1123L;ENSP00000365823:F1084L;ENSP00000353422:F1123L;ENSP00000349985:F1123L	ENSP00000349985:F1123L	F	+	1	0	0	VPS13A	79098104	79098104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.553000	0.82203	2.064000	0.61679	0.397000	0.26171	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	78		78	78	1	2.060000	-20.000000	1	0.170000	NM_015186			80	77		276	272	1		1	1		0	0	78	0		1	9.335863e-01	0	8	0	10	0	80	276
VPS13A	23230	broad.mit.edu	37	9	79930362	79930362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79930362C>T	ENST00000360280.3	+	38	4866	c.4606C>T	c.(4606-4608)Caa>Taa	p.Q1536*	VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1536					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)				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						AACCAGTGTGCAAACATGGAC	0.373																																						ENST00000360280.3	0.500000	0.120000	3.900000e-01	1.800000e-01	0.270000	0.291060	0.270000	0.260000																										0				104						c.(4606-4608)Caa>Taa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							92.0	89.0	90.0					9																	79930362		2203	4300	6503	SO:0001587	stop_gained	23230	0	0					g.chr9:79930362C>T	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.4606C>T	chr9.hg19:g.79930362C>T	ENSP00000353422:p.Gln1536*	0					VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*	p.Q1536*	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		38	4866	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	0	1	hg19	c.4606C>T	CCDS6655.1	0	.	.	.	.	.	.	.	.	.	.	C	45	11.782466	0.99602	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.637723	0.15298	N	0.269795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7566	0.96296	0.0:1.0:0.0:0.0	.	.	.	.	X	1536;1497;1536;1536	.	ENSP00000349985:Q1536X	Q	+	1	0	0	VPS13A	79120182	79120182	1.000000	0.71417	0.974000	0.42286	0.939000	0.58152	4.827000	0.62723	2.671000	0.90904	0.563000	0.77884	CAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	0	1		15	3	2	1		1	1	70		70	70	1	2.060000	-7.616865	1	0.170000	NM_015186			7	7		299	292	0		0	0		1	0	70	0		5.586515e-02	2.299627e-02	0	0	0	22	0	7	299
VPS13A	23230	broad.mit.edu	37	9	79933430	79933430	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1746					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)				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						ACCTATGCTTCTGGCAAAGTC	0.378																																						ENST00000360280.3	1.000000	0.630000	1	7.500000e-01	0.890000	0.882266	0.890000	1.000000																										0				104						c.(5236-5238)Ctg>Ttg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							68.0	70.0	70.0					9																	79933430		2203	4299	6502	SO:0001819	synonymous_variant	23230	0	0					g.chr9:79933430C>T	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.5236C>T	chr9.hg19:g.79933430C>T		0					VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.L1707L	p.L1746L	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		41	5496	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	1	1	hg19	c.5236C>T	CCDS6655.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-9.945030	1	0.170000	NM_015186			35	35		411	403	0		1	1		0	0	86	0		1	8.303473e-01	0	4	0	36	0	35	411
VPS13A	23230	broad.mit.edu	37	9	79934591	79934591	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						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)				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						GGTATCAAGGtatatctatat	0.289																																						ENST00000360280.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999761	0.990000	1.000000																										0				104						c.e42+2		vacuolar protein sorting 13 homolog A (S. cerevisiae)							75.0	74.0	75.0					9																	79934591		2202	4299	6501	SO:0001630	splice_region_variant	23230	0	0					g.chr9:79934591T>C	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.5415+2T>C	chr9.hg19:g.79934591T>C		0					VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site		NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		42	5675	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	0	1	hg19		CCDS6655.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-20.000000	1	0.170000	NM_015186	Intron		21	20		90	88	1		1			0	0	11	0		9.999985e-01	0	0	0	0	0	0	21	90
VPS13A	23230	broad.mit.edu	37	9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2480					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)				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						GATGCCTATAGATTTGGGGGA	0.279																																						ENST00000360280.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.995248	0.990000	1.000000																										0				104						c.(7438-7440)Gat>Tat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							63.0	65.0	64.0					9																	79968343		2203	4300	6503	SO:0001583	missense	23230	0	0					g.chr9:79968343G>T	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.7438G>T	chr9.hg19:g.79968343G>T	ENSP00000353422:p.Asp2480Tyr	0					VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y	p.D2480Y	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		54	7698	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	1	1	hg19	c.7438G>T	CCDS6655.1	1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432306	0.12045	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48836	0.96;0.8;0.87;0.96	5.22	-0.24	0.13047	5.22	-0.24	0.13047	.	0.697544	0.14185	N	0.335709	T	0.28234	0.0697	N	0.24115	0.695	0.26116	N	0.980619	B;B;B;B	0.11235	0.001;0.004;0.001;0.0	B;B;B;B	0.16722	0.016;0.003;0.007;0.007	T	0.15350	-1.0440	10	0.33141	T	0.24	.	5.5173	0.16914	0.3879:0.2722:0.3399:0.0	.	2441;2480;2480;2480	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2480;2441;2480;2480	ENSP00000365821:D2480Y;ENSP00000365823:D2441Y;ENSP00000353422:D2480Y;ENSP00000349985:D2480Y	ENSP00000349985:D2480Y	D	+	1	0	0	VPS13A	79158163	79158163	0.780000	0.28664	0.317000	0.25265	0.604000	0.37047	1.524000	0.35942	-0.303000	0.08856	-0.274000	0.10170	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_015186			30	30		227	219	1		1	1		0	0	55	0		1	6.985946e-01	0	4	0	16	0	30	227
VPS13A	23230	broad.mit.edu	37	9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2910					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)				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						TAAGGCACTAGTTGGTGGAGC	0.393																																						ENST00000360280.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				104						c.(8728-8730)Gtt>Ttt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							98.0	95.0	96.0					9																	79985233		2203	4300	6503	SO:0001583	missense	23230	0	0					g.chr9:79985233G>T	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.8728G>T	chr9.hg19:g.79985233G>T	ENSP00000353422:p.Val2910Phe	0					VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F	p.V2910F	NM_033305.2	NP_150648.2	0	0	0	1.938587	Q96RL7	VP13A_HUMAN		64	8988	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	1	1	hg19	c.8728G>T	CCDS6655.1	1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147356	0.21288	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54071	0.77;0.59;0.68;0.75	5.59	4.68	0.58851	5.59	4.68	0.58851	.	0.057766	0.64402	D	0.000001	T	0.57272	0.2042	N	0.20530	0.585	0.80722	D	1	B;D;D;D	0.89917	0.189;1.0;0.999;1.0	B;D;D;D	0.97110	0.076;0.999;0.99;1.0	T	0.56402	-0.7985	9	.	.	.	.	14.8084	0.69974	0.0:0.2734:0.7266:0.0	.	2871;2910;2910;2910	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2910;2871;2910;2910	ENSP00000365821:V2910F;ENSP00000365823:V2871F;ENSP00000353422:V2910F;ENSP00000349985:V2910F	.	V	+	1	0	0	VPS13A	79175053	79175053	1.000000	0.71417	0.932000	0.37286	0.994000	0.84299	3.027000	0.49697	1.329000	0.45376	0.467000	0.42956	GTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_015186			61	60		242	238	1		1	1		0	0	51	0		1	9.999175e-01	0	14	0	44	0	61	242
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468			Mis		uveal melanoma																																	ENST00000286548.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q21	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""				E	E			uveal melanoma		1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	302						c.(547-549)Cga>Tga		guanine nucleotide binding protein (G protein), q polypeptide							155.0	118.0	131.0					9																	80412494		2203	4300	6503	SO:0001587	stop_gained	2776	0	0					g.chr9:80412494G>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.547C>T	chr9.hg19:g.80412494G>A	ENSP00000286548:p.Arg183*	0					GNAQ_ENST00000397476.3_5'UTR	p.R183*	NM_002072.3	NP_002063.2	0	0	0	1.938587	P50148	GNAQ_HUMAN		4	769	-			O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	0	1	hg19	c.547C>T	CCDS6658.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	2	GNAQ	79602314	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	1	0	1		2	2	2	0		0	0	83		83	83	1	2.060000	-9.922847	1	0.170000	NM_002072			85	85		168	167	1		1	1		0	0	83	0		1	1	0	6	0	94	0	85	168
CEP78	84131	broad.mit.edu	37	9	80866840	80866840	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000277082.5_Silent_p.K362K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	362					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433																																						ENST00000424347.2	1.000000	0.880000	1	9.900000e-01	0.990000	0.993428	0.990000	1.000000																										0				21						c.(1084-1086)aaA>aaG		centrosomal protein 78kDa							46.0	49.0	48.0					9																	80866840		1880	4115	5995	SO:0001819	synonymous_variant	84131	0	0					g.chr9:80866840A>G	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.1086A>G	chr9.hg19:g.80866840A>G		0					CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K	p.K362K			0	0	0	1.938587	Q5JTW2	CEP78_HUMAN		9	1375	+			A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	1	1	hg19	c.1086A>G		1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	1	0	0		2	2	2	0		0	0	16		16	16	1	2.060000	-19.975180	1	0.170000	XM_095991			12	12		64	64	1		1	1		0	0	16	0		9.993814e-01	7.970918e-01	0	2	0	16	0	12	64
CEP78	84131	broad.mit.edu	37	9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K|CEP78_ENST00000277082.5_Missense_Mutation_p.E396K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	396					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413																																						ENST00000424347.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998748	0.990000	1.000000																										0				21						c.(1186-1188)Gaa>Aaa		centrosomal protein 78kDa							36.0	36.0	36.0					9																	80866940		1863	4094	5957	SO:0001583	missense	84131	0	0					g.chr9:80866940G>A	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.1186G>A	chr9.hg19:g.80866940G>A	ENSP00000411284:p.Glu396Lys	0					CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K	p.E396K			0	0	0	1.938587	Q5JTW2	CEP78_HUMAN		9	1475	+			A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	1	1	hg19	c.1186G>A		1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692335	0.68271	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28666	1.61;1.8;1.6;1.61;1.6	5.51	3.57	0.40892	5.51	3.57	0.40892	.	0.299706	0.31246	N	0.007995	T	0.45478	0.1344	M	0.69823	2.125	0.30262	N	0.793045	D;P;D	0.62365	0.991;0.801;0.967	P;B;P	0.53760	0.734;0.314;0.614	T	0.52328	-0.8590	10	0.41790	T	0.15	-8.1064	14.7238	0.69329	0.0:0.276:0.724:0.0	.	397;397;396	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	396;396;397;397;396;396	ENSP00000411284:E396K;ENSP00000399286:E397K;ENSP00000365782:E397K;ENSP00000277082:E396K;ENSP00000365783:E396K	ENSP00000277082:E396K	E	+	1	0	0	CEP78	80056760	80056760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.034000	0.49751	0.622000	0.30249	0.655000	0.94253	GAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	1	0	0		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	XM_095991			15	15		64	63	1		1	1		0	0	22	0		9.999197e-01	9.908111e-01	0	5	0	32	0	15	64
TLE4	7091	broad.mit.edu	37	9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376552.2	+	7	1599	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	194	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			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						CATGACAATGATCACCAAAGA	0.483																																						ENST00000376552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(580-582)gAt>gGt		transducin-like enhancer of split 4							79.0	78.0	78.0					9																	82267698		1949	4149	6098	SO:0001583	missense	7091	0	0					g.chr9:82267698A>G	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.581A>G	chr9.hg19:g.82267698A>G	ENSP00000365735:p.Asp194Gly	0					TLE4_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR	p.D194G	NM_007005.3	NP_008936.2	0	0	0	1.938587	Q04727	TLE4_HUMAN		7	1599	+			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	1	1	hg19	c.581A>G	CCDS43837.1	1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432175	0.62844	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.49139	0.82;0.84;0.91;0.79;0.91;0.93;0.79;1.47;1.88	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.254009	0.42420	D	0.000719	T	0.50394	0.1613	L	0.45137	1.4	0.80722	D	1	B;B;P;B	0.38250	0.001;0.122;0.624;0.145	B;B;P;B	0.44772	0.005;0.06;0.46;0.187	T	0.46952	-0.9154	10	0.44086	T	0.13	-21.7834	16.5885	0.84745	1.0:0.0:0.0:0.0	.	169;194;194;194	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	G	194;194;194;208;208;194;169;192;179;64	ENSP00000365735:D194G;ENSP00000365727:D194G;ENSP00000365703:D194G;ENSP00000415423:D208G;ENSP00000365720:D194G;ENSP00000265284:D169G;ENSP00000412567:D192G;ENSP00000409313:D179G;ENSP00000417844:D64G	ENSP00000265284:D169G	D	+	2	0	0	TLE4	81457518	81457518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.672000	0.91181	2.317000	0.78254	0.460000	0.39030	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	1	0	1		2	2	2	0		0	0	109		109	106	1	2.060000	-20.000000	1	0.170000	XM_212237			62	62		286	282	1		1	1	1	0	0	109	419		1	9.985708e-01	1	10	99	38	364	62	286
TLE4	7091	broad.mit.edu	37	9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376544.3_Splice_Site	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	207	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			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						GAGCTCTTCAGTATCCCCATC	0.413																																						ENST00000376552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(619-621)Gta>Tta		transducin-like enhancer of split 4							166.0	165.0	165.0					9																	82319707		1844	4097	5941	SO:0001583	missense	7091	0	0					g.chr9:82319707G>T	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.619G>T	chr9.hg19:g.82319707G>T	ENSP00000365735:p.Val207Leu	0					TLE4_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR	p.V207L	NM_007005.3	NP_008936.2	0	0	0	1.938587	Q04727	TLE4_HUMAN		9	1637	+			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	0	1	hg19	c.619G>T	CCDS43837.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805586|3.805586	0.70682|0.70682	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376544;ENST00000376520|ENST00000376552;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T	.|0.43294	.|0.95;1.06;1.05;1.59;1.99;1.31	5.92|5.92	5.92|5.92	0.95590|0.95590	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26304	.|0.0642	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001	.|T	.|0.19289	.|-1.0310	.|9	.|0.02654	.|T	.|1	.|2.9876	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;207;207;207	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	.|L	-1|207;207;182;192;77;4	.|ENSP00000365735:V207L;ENSP00000365720:V207L;ENSP00000265284:V182L;ENSP00000409313:V192L;ENSP00000417844:V77L;ENSP00000418409:V4L	.|ENSP00000265284:V182L	.|V	+|+	.|1	.|0	.|0	TLE4|TLE4	81509527|81509527	81509527|81509527	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.975000|0.975000	0.68041|0.68041	7.953000|7.953000	0.87836|0.87836	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	.|GTA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	0	0	1		2	2	2	0		0	0	228		228	225	1	2.060000	-20.000000	1	0.170000	XM_212237			199	194		847	825	1		1	1	1	0	0	228	693		1	9.996001e-01	1	7	141	43	640	199	847
TLE4	7091	broad.mit.edu	37	9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376552.2	+	16	2706	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	563					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)			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						TGGGACCTGGCGGCTCCAACC	0.582																																						ENST00000376552.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(1687-1689)gCg>gTg		transducin-like enhancer of split 4							64.0	63.0	63.0					9																	82335058		2203	4300	6503	SO:0001583	missense	7091	10	121412	39				g.chr9:82335058C>T	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.1688C>T	chr9.hg19:g.82335058C>T	ENSP00000365735:p.Ala563Val	0					TLE4_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V	p.A563V	NM_007005.3	NP_008936.2	0	0	0	1.938587	Q04727	TLE4_HUMAN		16	2706	+			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	1	1	hg19	c.1688C>T	CCDS43837.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636386	0.87760	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.71	5.71	0.89125	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	0.19406	0.0466	L	0.35723	1.085	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;0.98;1.0	P;B;B;P	0.52454	0.699;0.229;0.347;0.691	T	0.00128	-1.2018	10	0.66056	D	0.02	-18.4705	19.8557	0.96758	0.0:1.0:0.0:0.0	.	538;494;595;563	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	563;494;595;595;200;538	ENSP00000365735:A563V;ENSP00000365727:A494V;ENSP00000365703:A595V;ENSP00000365720:A595V;ENSP00000365717:A200V;ENSP00000265284:A538V	ENSP00000265284:A538V	A	+	2	0	0	TLE4	81524878	81524878	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-3.200332	1	0.170000	XM_212237			53	52		221	217	1		1	1	1	0	0	50	592		1	9.996182e-01	1	9	130	43	574	53	221
TLE4	7091	broad.mit.edu	37	9	82336698	82336698	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376552.2	+	17	2899	c.1881T>C	c.(1879-1881)atT>atC	p.I627I	TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376534.4_Silent_p.I264I|TLE4_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376544.3_Silent_p.I558I	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	627					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)			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						GTATTGACATTTCTAATGATG	0.507																																						ENST00000376552.2	0.530000	0.150000	4.200000e-01	2.100000e-01	0.300000	0.324564	0.300000	0.300000																										0				39						c.(1879-1881)atT>atC		transducin-like enhancer of split 4							73.0	73.0	73.0					9																	82336698		2203	4300	6503	SO:0001819	synonymous_variant	7091	0	0					g.chr9:82336698T>C	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.1881T>C	chr9.hg19:g.82336698T>C		0					TLE4_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376534.4_Silent_p.I264I	p.I627I	NM_007005.3	NP_008936.2	0	0	0	1.938587	Q04727	TLE4_HUMAN		17	2899	+			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	1	1	hg19	c.1881T>C	CCDS43837.1	0																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	0	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-9.607969	1	0.170000	XM_212237			9	9		335	331	0		1	0	1	0	0	61	795		9.940626e-01	2.890587e-01	9.999815e-01	0	27	37	884	9	335
TLE1	7088	broad.mit.edu	37	9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	590					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1768-1770)ttC>ttA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							87.0	83.0	85.0					9																	84205779		2203	4300	6503	SO:0001583	missense	7088	0	0					g.chr9:84205779G>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1770C>A	chr9.hg19:g.84205779G>T	ENSP00000365682:p.Phe590Leu	0						p.F590L	NM_005077.3	NP_005068.2	0	0	0	1.938587	Q04724	TLE1_HUMAN		16	2834	-			A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	1	1	hg19	c.1770C>A	CCDS6661.1	1	.	.	.	.	.	.	.	.	.	.	g	32	5.149377	0.94645	.	.	ENSG00000196781	ENST00000376499	T	0.58060	0.36	5.96	5.06	0.68205	5.96	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043738	0.85682	D	0.000000	T	0.65688	0.2715	L	0.49571	1.57	0.80722	D	1	P;D;P	0.62365	0.887;0.991;0.624	P;D;P	0.70716	0.634;0.97;0.537	T	0.66830	-0.5824	10	0.87932	D	0	-24.4386	13.694	0.62567	0.1244:0.0:0.8756:0.0	.	575;616;590	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	L	590	ENSP00000365682:F590L	ENSP00000365682:F590L	F	-	3	2	2	TLE1	83395599	83395599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.394000	0.52551	2.832000	0.97577	0.655000	0.94253	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_005077			98	96		420	418	1		1	1	1	0	0	100	982		1	9.999815e-01	1	14	164	55	986	98	420
TLE1	7088	broad.mit.edu	37	9	84228383	84228383	+	Silent	SNP	G	G	A	rs566199044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	324	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16159	0.0		0.0	False		,,,				2504	0.0				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(970-972)agC>agT		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							123.0	125.0	124.0					9																	84228383		2203	4300	6503	SO:0001819	synonymous_variant	7088	2	121412	33				g.chr9:84228383G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.972C>T	chr9.hg19:g.84228383G>A		0					TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	p.S324S	NM_005077.3	NP_005068.2	0	0	0	1.938587	Q04724	TLE1_HUMAN		12	2036	-			A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	1	1	hg19	c.972C>T	CCDS6661.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_005077			93	92		472	463	1		1	1		0	0	81	0		1	9.998813e-01	0	14	0	54	0	93	472
RASEF	158158	broad.mit.edu	37	9	85637250	85637250	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAAACTCACGTCTTTCCGT	0.502																																						ENST00000376447.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.e3+1		RAS and EF-hand domain containing							246.0	209.0	221.0					9																	85637250		2203	4300	6503	SO:0001630	splice_region_variant	158158	2	121412	36				g.chr9:85637250C>T	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.669+1G>A	chr9.hg19:g.85637250C>T		0							NM_152573.2	NP_689786.2	0	0	0	1.938587	Q8IZ41	RASEF_HUMAN		3	930	-			A6NC29|Q96N04	Splice_Site	SNP	ENST00000376447.3	1	1	hg19		CCDS6662.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246870	0.80024	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.88	4.98	0.66077	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	.	RASEF	84827070	84827070	1.000000	0.71417	0.886000	0.34754	0.932000	0.56968	5.111000	0.64628	1.497000	0.48584	0.655000	0.94253	.	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	1	0	1		2	2	2	0		0	0	90		90	90	1	2.060000	-20.000000	1	0.170000	NM_152573	Intron		88	86		435	419	1		1	0		0	0	90	0		1	0	0	0	0	1	0	88	435
FRMD3	257019	broad.mit.edu	37	9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	552						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				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						ATCAATACCTGACTCCAAAAG	0.517																																						ENST00000304195.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1654-1656)tCa>tTa		FERM domain containing 3							63.0	66.0	65.0					9																	85862972		1931	4139	6070	SO:0001583	missense	257019	0	0					g.chr9:85862972G>A	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.1655C>T	chr9.hg19:g.85862972G>A	ENSP00000303508:p.Ser552Leu	0					FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L	p.S552L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	0	0	0	1.938587	A2A2Y4	FRMD3_HUMAN		14	1861	-			A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	1	1	hg19	c.1655C>T	CCDS43840.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662574	0.88251	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.90563	-2.22;-2.69;-0.25;-2.54	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.994;0.998	D	0.95210	0.8324	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	552;552;209	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	L	552;358;209;552	ENSP00000365621:S552L;ENSP00000365617:S358L;ENSP00000328615:S209L;ENSP00000303508:S552L	ENSP00000303508:S552L	S	-	2	0	0	FRMD3	85052792	85052792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.340000	0.97038	2.699000	0.92147	0.655000	0.94253	TCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-20.000000	1	0.170000	NM_174938			75	75		330	325	1		1	0		0	0	82	0		1	5.194253e-01	0	1	0	8	0	75	330
UBQLN1	29979	broad.mit.edu	37	9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	538				NP -> YS (in Ref. 4; BAB20436). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1612-1614)Cct>Act		ubiquilin 1							129.0	120.0	123.0					9																	86278795		2203	4300	6503	SO:0001583	missense	29979	0	0					g.chr9:86278795G>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1612C>A	chr9.hg19:g.86278795G>T	ENSP00000365576:p.Pro538Thr	0					UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	p.P538T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	0	0	0	1.938587	Q9UMX0	UBQL1_HUMAN		10	2135	-			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	1	1	hg19	c.1612C>A	CCDS6663.1	1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237373	0.39498	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.42513	0.97;0.97	5.74	4.84	0.62591	5.74	4.84	0.62591	.	0.070583	0.64402	D	0.000013	T	0.37999	0.1024	M	0.64567	1.98	0.34088	D	0.660352	B;B	0.19706	0.004;0.038	B;B	0.15052	0.012;0.01	T	0.43410	-0.9393	10	0.23302	T	0.38	.	11.1769	0.48606	0.0745:0.1609:0.7645:0.0	.	510;538	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	538;510	ENSP00000365576:P538T;ENSP00000257468:P510T	ENSP00000257468:P510T	P	-	1	0	0	UBQLN1	85468615	85468615	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.761000	0.47589	2.695000	0.91970	0.655000	0.94253	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	1	0	1		2	2	2	0		0	0	82		82	80	1	2.060000	-20.000000	1	0.170000	NM_013438			61	60		274	268	1		1	1		0	0	82	0		1	1	0	102	0	260	0	61	274
UBQLN1	29979	broad.mit.edu	37	9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	260					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(778-780)aGc>aTc		ubiquilin 1							345.0	351.0	349.0					9																	86293447		2203	4300	6503	SO:0001583	missense	29979	0	0					g.chr9:86293447C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.779G>T	chr9.hg19:g.86293447C>A	ENSP00000365576:p.Ser260Ile	0					UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	0	0	0	1.938587	Q9UMX0	UBQL1_HUMAN		5	1302	-			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	1	1	hg19	c.779G>T	CCDS6663.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.235092	0.95207	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80738	-1.41;-1.41;-1.41	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	D	0.90439	0.4430	10	0.62326	D	0.03	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	260;260	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	I	260;260;57	ENSP00000365576:S260I;ENSP00000257468:S260I;ENSP00000434194:S57I	ENSP00000257468:S260I	S	-	2	0	0	UBQLN1	85483267	85483267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.680000	0.91292	0.655000	0.94253	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	1	0	0		2	2	2	0		0	0	425		425	422	1	2.060000	-20.000000	1	0.170000	NM_013438			342	336		1627	1586	1		1	1		0	0	425	0		1	1	0	106	0	253	0	342	1627
UBQLN1	29979	broad.mit.edu	37	9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	250					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(748-750)gaG>gaT		ubiquilin 1							346.0	357.0	354.0					9																	86293476		2203	4300	6503	SO:0001583	missense	29979	0	0					g.chr9:86293476C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.750G>T	chr9.hg19:g.86293476C>A	ENSP00000365576:p.Glu250Asp	0					UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	0	0	0	1.938587	Q9UMX0	UBQL1_HUMAN		5	1273	-			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	1	1	hg19	c.750G>T	CCDS6663.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339463	0.81911	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80653	1.03;1.03;-1.4	5.71	3.31	0.37934	5.71	3.31	0.37934	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.90977	3.165	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.88817	0.3296	10	0.72032	D	0.01	.	8.5668	0.33545	0.0:0.2121:0.0:0.7879	.	250;250	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	250;250;47	ENSP00000365576:E250D;ENSP00000257468:E250D;ENSP00000434194:E47D	ENSP00000257468:E250D	E	-	3	2	2	UBQLN1	85483296	85483296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.632000	0.37102	0.414000	0.25790	-0.238000	0.12139	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	0	0	0		16	6	2	1		1	1	434		434	431	1	2.060000	-20.000000	1	0.170000	NM_013438			320	312		1664	1629	1		1	1		1	0	434	0		1	1	0	92	0	304	0	320	1664
KIF27	55582	broad.mit.edu	37	9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000413982.1_Missense_Mutation_p.V429A|KIF27_ENST00000334204.2_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	429					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)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468																																						ENST00000297814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1285-1287)gTc>gCc		kinesin family member 27							183.0	164.0	170.0					9																	86518147		2203	4300	6503	SO:0001583	missense	55582	0	0					g.chr9:86518147A>G	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.1286T>C	chr9.hg19:g.86518147A>G	ENSP00000297814:p.Val429Ala	0					KIF27_ENST00000334204.2_Missense_Mutation_p.V429A|KIF27_ENST00000413982.1_Missense_Mutation_p.V429A	p.V429A	NM_017576.1	NP_060046.1	0	0	0	1.938587	Q86VH2	KIF27_HUMAN		4	1429	-			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	1	1	hg19	c.1286T>C	CCDS6665.1	1	.	.	.	.	.	.	.	.	.	.	A	1.074	-0.669059	0.03403	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.68903	-0.36;-0.35;-0.22	5.37	3.04	0.35103	5.37	3.04	0.35103	.	0.258741	0.26863	N	0.022107	T	0.50103	0.1596	L	0.46157	1.445	0.20821	N	0.999842	B;B;B	0.25850	0.049;0.136;0.132	B;B;B	0.22152	0.018;0.038;0.021	T	0.32481	-0.9905	10	0.06625	T	0.88	.	7.501	0.27518	0.696:0.0:0.304:0.0	.	429;429;429	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	429	ENSP00000297814:V429A;ENSP00000401688:V429A;ENSP00000333928:V429A	ENSP00000297814:V429A	V	-	2	0	0	KIF27	85707967	85707967	0.944000	0.32072	0.924000	0.36721	0.842000	0.47809	3.340000	0.52143	0.883000	0.36040	0.533000	0.62120	GTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_017576			62	62		321	313	1		1	0		0	0	68	0		1	2.554738e-01	0	0	0	6	0	62	321
KIF27	55582	broad.mit.edu	37	9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T	rs372449530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000413982.1_Missense_Mutation_p.A280T|KIF27_ENST00000334204.2_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438																																						ENST00000297814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(838-840)Gct>Act		kinesin family member 27		C	THR/ALA	0,4406		0,0,2203	78.0	82.0	81.0		838	4.8	1.0	9		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/1402	86518595	1,13005	2203	4300	6503	SO:0001583	missense	55582	2	121412	36				g.chr9:86518595C>T	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.838G>A	chr9.hg19:g.86518595C>T	ENSP00000297814:p.Ala280Thr	0					KIF27_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_Missense_Mutation_p.A280T	p.A280T	NM_017576.1	NP_060046.1	0	0	0	1.938587	Q86VH2	KIF27_HUMAN		4	981	-			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	1	1	hg19	c.838G>A	CCDS6665.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471658	0.84533	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	4.76	0.60689	5.66	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000025	D	0.89750	0.6805	M	0.92077	3.27	0.52501	D	0.999955	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.68483	0.914;0.958;0.948	D	0.91639	0.5325	10	0.72032	D	0.01	.	14.0295	0.64606	0.0:0.9279:0.0:0.0721	.	280;280;280	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	280	ENSP00000297814:A280T;ENSP00000401688:A280T;ENSP00000333928:A280T	ENSP00000297814:A280T	A	-	1	0	0	KIF27	85708415	85708415	1.000000	0.71417	0.975000	0.42487	0.856000	0.48823	6.081000	0.71309	2.657000	0.90304	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1		2	2	2	0		0	0	100		100	100	1	2.060000	-20.000000	1	0.170000	NM_017576			76	73		352	346	1		1	1		0	0	100	0		1	8.536859e-02	0	2	0	1	0	76	352
KIF27	55582	broad.mit.edu	37	9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000413982.1_Missense_Mutation_p.R206K|KIF27_ENST00000334204.2_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	206	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438																																						ENST00000297814.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(616-618)aGa>aAa		kinesin family member 27							208.0	203.0	205.0					9																	86518816		2203	4300	6503	SO:0001583	missense	55582	0	0					g.chr9:86518816C>T	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.617G>A	chr9.hg19:g.86518816C>T	ENSP00000297814:p.Arg206Lys	0					KIF27_ENST00000334204.2_Missense_Mutation_p.R206K|KIF27_ENST00000413982.1_Missense_Mutation_p.R206K	p.R206K	NM_017576.1	NP_060046.1	0	0	0	1.938587	Q86VH2	KIF27_HUMAN		4	760	-			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	1	1	hg19	c.617G>A	CCDS6665.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796143	0.90453	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.86432	-2.12;-2.12;-2.12	5.57	4.62	0.57501	5.57	4.62	0.57501	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000024	D	0.96870	0.8978	H	0.99887	4.895	0.45899	D	0.998744	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.962;0.982;0.98	D	0.98374	1.0555	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.8647:0.1353:0.0	.	206;206;206	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	206	ENSP00000297814:R206K;ENSP00000401688:R206K;ENSP00000333928:R206K	ENSP00000297814:R206K	R	-	2	0	0	KIF27	85708636	85708636	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.041000	0.70988	2.610000	0.88304	0.591000	0.81541	AGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1		2	2	2	0		0	0	258		258	257	1	2.060000	-20.000000	1	0.170000	NM_017576			136	129		904	878	1		1	0		0	0	258	0		1	8.677746e-02	0	0	0	4	0	136	904
KIF27	55582	broad.mit.edu	37	9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000413982.1_Missense_Mutation_p.S126N|KIF27_ENST00000334204.2_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGTCAATGCTAGGATGTTC	0.363																																						ENST00000297814.2	0.460000	0.200000	3.900000e-01	2.500000e-01	0.310000	0.328899	0.310000	0.310000																										0				43						c.(376-378)aGc>aAc		kinesin family member 27							129.0	143.0	138.0					9																	86523489		2203	4300	6503	SO:0001583	missense	55582	1	121408	29				g.chr9:86523489C>T	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.377G>A	chr9.hg19:g.86523489C>T	ENSP00000297814:p.Ser126Asn	0					KIF27_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_Missense_Mutation_p.S126N	p.S126N	NM_017576.1	NP_060046.1	0	0	0	1.938587	Q86VH2	KIF27_HUMAN		3	520	-			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	1	1	hg19	c.377G>A	CCDS6665.1	0	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188885	0.06299	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72051	-0.62;-0.62;-0.62	5.27	-0.74	0.11115	5.27	-0.74	0.11115	Kinesin, motor domain (4);	0.413402	0.22375	N	0.060891	T	0.40448	0.1117	N	0.04768	-0.165	0.25894	N	0.98343	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.31833	-0.9929	10	0.06494	T	0.89	.	10.3921	0.44179	0.0:0.2838:0.0:0.7162	.	126;126;126	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	126	ENSP00000297814:S126N;ENSP00000401688:S126N;ENSP00000333928:S126N	ENSP00000297814:S126N	S	-	2	0	0	KIF27	85713309	85713309	0.003000	0.15002	0.977000	0.42913	0.982000	0.71751	0.554000	0.23407	-0.086000	0.12550	0.491000	0.48974	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	0	0	1		2	2	2	0		0	0	136		136	135	1	2.060000	-3.107441	1	0.170000	NM_017576			22	21		769	749	0		1	0		0	0	136	0		9.999982e-01	5.005174e-03	0	0	0	4	0	22	769
C9orf64	84267	broad.mit.edu	37	9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398																																						ENST00000376344.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				15						c.(661-663)Gaa>Aaa		chromosome 9 open reading frame 64							115.0	95.0	102.0					9																	86559841		2203	4300	6503	SO:0001583	missense	84267	0	0					g.chr9:86559841C>T	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.661G>A	chr9.hg19:g.86559841C>T	ENSP00000365522:p.Glu221Lys	0					C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	p.E221K	NM_032307.3	NP_115683.3	0	0	0	1.938587	Q5T6V5	CI064_HUMAN		3	877	-			B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	1	1	hg19	c.661G>A	CCDS6666.2	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.24	3.4	0.38934	5.24	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.31371	0.925	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.14476	-1.0471	9	0.10902	T	0.67	-13.5167	11.5734	0.50848	0.0:0.8551:0.0:0.1449	.	221	Q5T6V5	CI064_HUMAN	K	221;80	.	ENSP00000318375:E80K	E	-	1	0	0	C9orf64	85749661	85749661	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	7.677000	0.84024	0.715000	0.32103	0.655000	0.94253	GAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_032307			49	46		250	246	1		1	1		0	0	55	0		1	9.999447e-01	0	27	0	50	0	49	250
HNRNPK	3190	broad.mit.edu	37	9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376264.2	-	16	1533	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E425D	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	425	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408																																						ENST00000376264.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				19						c.(1273-1275)gaG>gaC		heterogeneous nuclear ribonucleoprotein K							94.0	89.0	91.0					9																	86585163		2203	4300	6503	SO:0001583	missense	3190	0	0					g.chr9:86585163C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1275G>C	chr9.hg19:g.86585163C>G	ENSP00000365440:p.Glu425Asp	0					HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|RP11-575L7.8_ENST00000448389.1_RNA	p.E425D	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	0	0	0	1.938587	P61978	HNRPK_HUMAN		16	1533	-			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	1	1	hg19	c.1275G>C	CCDS6667.1	1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783871	0.49891	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.33	-2.79	0.05841	5.33	-2.79	0.05841	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12853	0.265	0.50632	D	0.999883	D;B;D;D;D;D;D;D	0.76494	0.998;0.166;0.999;0.999;0.999;0.997;0.998;0.999	D;P;D;D;D;D;D;D	0.85130	0.994;0.519;0.996;0.996;0.995;0.99;0.996;0.997	T	0.02251	-1.1188	10	0.38643	T	0.18	-5.7936	13.4098	0.60935	0.0:0.4477:0.0:0.5523	.	401;390;425;420;425;401;425;425	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	425;425;425;425;425;390;425;420	ENSP00000365458:E425D;ENSP00000365440:E425D;ENSP00000365439:E425D;ENSP00000317788:E425D;ENSP00000353552:E425D	ENSP00000317788:E425D	E	-	3	2	2	HNRNPK	85774983	85774983	0.469000	0.25846	0.981000	0.43875	0.996000	0.88848	-0.281000	0.08456	-0.480000	0.06803	0.591000	0.81541	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2	1	0	1		2	2	2	0		0	0	67		67	68	1	2.060000	-20.000000	1	0.170000				51	51		273	272	1		1	1		0	0	67	0		1	1	0	496	0	1205	0	51	273
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376264.2	-	11	1202	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P315H	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Poly-Pro.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527																																						ENST00000376264.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(943-945)cCt>cAt		heterogeneous nuclear ribonucleoprotein K							41.0	50.0	47.0					9																	86586806		2196	4290	6486	SO:0001583	missense	3190	0	0					g.chr9:86586806G>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.944C>A	chr9.hg19:g.86586806G>T	ENSP00000365440:p.Pro315His	0					HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|RP11-575L7.8_ENST00000448389.1_RNA	p.P315H	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	0	0	0	1.938587	P61978	HNRPK_HUMAN		11	1202	-			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	1	1	hg19	c.944C>A	CCDS6667.1	1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492840	0.44352	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.50813	0.73;0.77;0.73;0.77;0.77	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.301034	0.36555	N	0.002539	T	0.56572	0.1994	L	0.34521	1.04	0.47698	D	0.999494	D;D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.947;1.0;1.0;0.911	D;D;D;D;P;D;D;B	0.91635	0.997;0.997;0.998;0.999;0.584;0.999;0.999;0.379	T	0.44682	-0.9312	10	0.13470	T	0.59	-4.0566	17.5267	0.87802	0.0:0.0:1.0:0.0	.	291;280;315;310;315;291;315;315	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	315;315;315;315;315;280;315;310;291;246	ENSP00000365458:P315H;ENSP00000365440:P315H;ENSP00000365439:P315H;ENSP00000317788:P315H;ENSP00000353552:P315H	ENSP00000317788:P315H	P	-	2	0	0	HNRNPK	85776626	85776626	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.068000	0.71201	2.636000	0.89361	0.655000	0.94253	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2	1	0	1		2	2	2	0		0	0	113		113	112	1	2.060000	-2.522124	1	0.170000				94	93		417	404	1		1	1		0	0	113	0		1	1	0	416	0	1073	0	94	417
SLC28A3	64078	broad.mit.edu	37	9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	15					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCCCACGTTGCTGTAGCCCTC	0.532																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(43-45)aGc>aTc		solute carrier family 28 (concentrative nucleoside transporter), member 3	Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)						150.0	130.0	137.0					9																	86955505		2203	4300	6503	SO:0001583	missense	64078	0	0					g.chr9:86955505C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.44G>T	chr9.hg19:g.86955505C>A	ENSP00000365413:p.Ser15Ile	0					SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	p.S15I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	0	0	0	1.938587	Q9HAS3	S28A3_HUMAN		1	93	-			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	1	1	hg19	c.44G>T	CCDS6670.1	1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880787	0.17467	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	4.44	-0.595	0.11660	4.44	-0.595	0.11660	.	1.122910	0.06607	N	0.754892	T	0.01870	0.0059	L	0.36672	1.1	0.25130	N	0.990578	B	0.23128	0.08	B	0.24701	0.055	T	0.48080	-0.9066	10	0.45353	T	0.12	-0.0182	3.624	0.08107	0.1677:0.4559:0.0:0.3764	.	15	Q9HAS3	S28A3_HUMAN	I	15	ENSP00000365413:S15I	ENSP00000365413:S15I	S	-	2	0	0	SLC28A3	86145325	86145325	0.282000	0.24268	0.056000	0.19401	0.013000	0.08279	0.177000	0.16801	-0.101000	0.12219	0.561000	0.74099	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	1	0	1		2	2	2	0		0	0	138		138	138	1	2.060000	-20.000000	1	0.170000	NM_022127			102	100		457	445	1		1	1		0	0	138	0		1	9.947679e-01	0	12	0	26	0	102	457
NTRK2	4915	broad.mit.edu	37	9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000323115.4	+	1	513	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	54	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGGCATCGTGGCATTTCCGAG	0.567										TSP Lung(25;0.17)																												ENST00000323115.4	0.930000	0.400000	7.900000e-01	5.100000e-01	0.640000	0.656476	0.640000	0.630000																										0				46						c.(160-162)Gca>Aca		neurotrophic tyrosine kinase, receptor, type 2	Amitriptyline(DB00321)						109.0	91.0	97.0					9																	87285823		2203	4300	6503	SO:0001583	missense	4915	0	0					g.chr9:87285823G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.160G>A	chr9.hg19:g.87285823G>A	ENSP00000314586:p.Ala54Thr	0	TSP Lung(25;0.17)				NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T	p.A54T			0	0	0	1.938587	Q16620	NTRK2_HUMAN		1	513	+			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	1	1	hg19	c.160G>A	CCDS35050.1	0	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271193	0.40194	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.01	4.12	0.48240	5.01	4.12	0.48240	Leucine-rich repeat-containing N-terminal (2);	0.197986	0.42548	D	0.000681	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	P;P;P;P;P;P;P	0.51933	0.937;0.937;0.949;0.923;0.843;0.907;0.937	P;P;P;P;P;P;P	0.61070	0.814;0.814;0.883;0.755;0.487;0.566;0.814	D	0.93206	0.6596	10	0.12766	T	0.61	.	8.3645	0.32378	0.0817:0.0:0.7287:0.1895	.	54;54;54;54;54;100;54	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	T	54	ENSP00000365387:A54T;ENSP00000365386:A54T;ENSP00000379221:A54T;ENSP00000365381:A54T;ENSP00000306167:A54T;ENSP00000277120:A54T;ENSP00000314586:A54T;ENSP00000352906:A54T	ENSP00000277120:A54T	A	+	1	0	0	NTRK2	86475643	86475643	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.171000	0.50824	1.341000	0.45600	0.561000	0.74099	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	1		2	2	2	0		0	0	62		62	61	1	2.060000	-3.315114	1	0.170000				20	20		337	326	1		1	1		0	0	62	0		9.999941e-01	8.190281e-01	0	14	0	41	0	20	337
NTRK2	4915	broad.mit.edu	37	9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000323115.4	+	6	942	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000304053.6_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	197	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CATAGGTTTGCCATCTGCAAA	0.373										TSP Lung(25;0.17)																												ENST00000323115.4	1.000000	0.830000	1	9.700000e-01	0.990000	0.983983	0.990000	1.000000																										0				46						c.(589-591)Cca>Tca		neurotrophic tyrosine kinase, receptor, type 2	Amitriptyline(DB00321)						156.0	134.0	141.0					9																	87338493		2203	4300	6503	SO:0001583	missense	4915	0	0					g.chr9:87338493C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.589C>T	chr9.hg19:g.87338493C>T	ENSP00000314586:p.Pro197Ser	0	TSP Lung(25;0.17)				NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000304053.6_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S	p.P197S			0	0	0	1.938587	Q16620	NTRK2_HUMAN		6	942	+			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	1	1	hg19	c.589C>T	CCDS35050.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273442	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;T;T;T;D;D;T;T	0.82081	-1.57;-1.52;-1.32;-1.36;-1.29;-1.57;-1.52;-1.32;-1.24	5.64	5.64	0.86602	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96360	0.9265	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	41;197;197;197;197;197;243;197	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	197;197;197;197;197;197;197;197;41	ENSP00000365387:P197S;ENSP00000365386:P197S;ENSP00000379221:P197S;ENSP00000365381:P197S;ENSP00000306167:P197S;ENSP00000277120:P197S;ENSP00000314586:P197S;ENSP00000352906:P197S;ENSP00000379207:P41S	ENSP00000277120:P197S	P	+	1	0	0	NTRK2	86528313	86528313	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.070000	0.64376	2.807000	0.96579	0.591000	0.81541	CCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-3.221884	1	0.170000				39	39		350	347	1		1	1		0	0	86	0		1	9.957179e-01	0	6	0	71	0	39	350
NTRK2	4915	broad.mit.edu	37	9	87339252	87339252	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000323115.4	+	7	1187	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000304053.6_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	278	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCAAGATTCTGTCAACCTCA	0.448										TSP Lung(25;0.17)																												ENST00000323115.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(832-834)tcT>tcG		neurotrophic tyrosine kinase, receptor, type 2	Amitriptyline(DB00321)						233.0	221.0	225.0					9																	87339252		2203	4300	6503	SO:0001819	synonymous_variant	4915	0	0					g.chr9:87339252T>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.834T>G	chr9.hg19:g.87339252T>G		0	TSP Lung(25;0.17)				NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000304053.6_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S	p.S278S			0	0	0	1.938587	Q16620	NTRK2_HUMAN		7	1187	+			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	1	1	hg19	c.834T>G	CCDS35050.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	0	0	1		2	2	2	0		0	0	213		213	212	1	2.060000	-20.000000	1	0.170000				160	158		786	778	1		1	1		0	0	213	0		1	9.989375e-01	0	2	0	49	0	160	786
NTRK2	4915	broad.mit.edu	37	9	87482309	87482309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000323115.4	+	12	1901	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000304053.6_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	516		Interaction with SHC1. {ECO:0000250}.			activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCCCCAGTACTTTGGCATCA	0.448										TSP Lung(25;0.17)																												ENST00000323115.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(1546-1548)taC>taT		neurotrophic tyrosine kinase, receptor, type 2	Amitriptyline(DB00321)						213.0	180.0	191.0					9																	87482309		2203	4300	6503	SO:0001819	synonymous_variant	4915	0	0					g.chr9:87482309C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1548C>T	chr9.hg19:g.87482309C>T		0	TSP Lung(25;0.17)				NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000304053.6_Silent_p.Y532Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y	p.Y516Y			0	0	0	1.938587	Q16620	NTRK2_HUMAN		12	1901	+			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	1	1	hg19	c.1548C>T	CCDS35050.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	1		2	2	2	0		0	0	155		155	153	1	2.060000	-20.000000	1	0.170000				119	116		664	655	0		1	0		0	0	155	0		1	6.315082e-02	0	0	0	3	0	119	664
AGTPBP1	23287	broad.mit.edu	37	9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	205					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343																																						ENST00000357081.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(613-615)Atg>Ctg		ATP/GTP binding protein 1							101.0	95.0	97.0					9																	88284449		2203	4298	6501	SO:0001583	missense	23287	0	0					g.chr9:88284449T>G	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.613A>C	chr9.hg19:g.88284449T>G	ENSP00000349592:p.Met205Leu	0					AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L	p.M205L			0	0	0	1.938587	Q9UPW5	CBPC1_HUMAN		8	757	-			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	1	1	hg19	c.613A>C		1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164042	0.09287	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.26957	1.7;1.7;2.17;2.17;1.99;1.7;1.7	5.76	-1.51	0.08664	5.76	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.313564	0.42964	N	0.000628	T	0.07143	0.0181	N	0.03154	-0.405	0.34644	D	0.720952	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45338	-0.9268	10	0.02654	T	1	-6.8687	7.3001	0.26415	0.3228:0.0:0.3568:0.3204	.	257;205;43;205	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	147;205;205;257;43;205;147	ENSP00000338512:M147L;ENSP00000349592:M205L;ENSP00000365251:M205L;ENSP00000365277:M257L;ENSP00000402804:M43L;ENSP00000365249:M205L;ENSP00000365248:M147L	ENSP00000338512:M147L	M	-	1	0	0	AGTPBP1	87474269	87474269	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	1.346000	0.33964	-0.165000	0.10908	0.533000	0.62120	ATG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_015239			51	49		230	227	1		1	1		0	0	85	0		1	9.701200e-01	0	10	0	18	0	51	230
AGTPBP1	23287	broad.mit.edu	37	9	88292495	88292495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88292495C>A	ENST00000357081.3	-	6	436	c.292G>T	c.(292-294)Gga>Tga	p.G98*	AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	98					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCGACCTCCACCtaaaaat	0.299																																						ENST00000357081.3	1.000000	0.500000	9.200000e-01	6.200000e-01	0.760000	0.772017	0.760000	1.000000																										0				44						c.(292-294)Gga>Tga		ATP/GTP binding protein 1							67.0	67.0	67.0					9																	88292495		2203	4300	6503	SO:0001587	stop_gained	23287	0	0					g.chr9:88292495C>A	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.292G>T	chr9.hg19:g.88292495C>A	ENSP00000349592:p.Gly98*	0					AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000432218.1_5'UTR	p.G98*			0	0	0	1.938587	Q9UPW5	CBPC1_HUMAN		6	436	-			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	0	1	hg19	c.292G>T		0	.	.	.	.	.	.	.	.	.	.	C	32	5.141000	0.94560	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.147635	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.8019	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	40;98;98;150;98;40	.	ENSP00000338512:G40X	G	-	1	0	0	AGTPBP1	87482315	87482315	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.259000	0.65485	2.798000	0.96311	0.655000	0.94253	GGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	0	0	1		2	2	2	0		0	0	58		58	55	1	2.060000	-3.075805	1	0.170000	NM_015239			24	24		335	314	0		1	0		0	0	58	0		9.999994e-01	5.757611e-01	0	0	0	28	0	24	335
ZCCHC6	79670	broad.mit.edu	37	9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000375963.3	-	13	2583	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A93V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	804					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			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						ATCTAAAGTGGCAAGTCCCTC	0.453																																						ENST00000375963.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				46						c.(2410-2412)gCc>gTc		zinc finger, CCHC domain containing 6							150.0	141.0	144.0					9																	88938254		2203	4300	6503	SO:0001583	missense	79670	0	0					g.chr9:88938254G>A	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.2411C>T	chr9.hg19:g.88938254G>A	ENSP00000365130:p.Ala804Val	0					ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A93V	p.A804V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	0	0	0	1.938587	Q5VYS8	TUT7_HUMAN		13	2583	-			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	1	1	hg19	c.2411C>T	CCDS35057.1	1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229520	0.22542	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.99;0.98;0.98	5.29	2.23	0.28157	5.29	2.23	0.28157	.	1.199960	0.05745	N	0.602137	T	0.36880	0.0983	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.30854	T	0.27	-4.5993	4.6312	0.12502	0.4745:0.2327:0.2929:0.0	.	681;804	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	93;681;804;804	ENSP00000277141:A93V;ENSP00000365127:A681V;ENSP00000365128:A804V;ENSP00000365130:A804V	ENSP00000277141:A93V	A	-	2	0	0	ZCCHC6	88128074	88128074	0.219000	0.23619	0.002000	0.10522	0.252000	0.25951	0.778000	0.26732	0.324000	0.23333	0.585000	0.79938	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	1	0	1		2	2	2	0		0	0	129		129	128	1	2.060000	-20.000000	1	0.170000	NM_024617			130	130		578	569	1		1	1		0	0	129	0		1	9.999999e-01	0	22	0	80	0	130	578
ZCCHC6	79670	broad.mit.edu	37	9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C	rs199887046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375963.3	-	6	1216	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	348					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			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						CCGAATTTTTGAAACCCAATC	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13964	0.0		0.0	False		,,,				2504	0.0					ENST00000375963.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999596	0.990000	1.000000																										0				46						c.(1042-1044)ttC>ttG		zinc finger, CCHC domain containing 6							80.0	83.0	82.0					9																	88958032		2203	4300	6503	SO:0001583	missense	79670	1	121412	35				g.chr9:88958032G>C	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.1044C>G	chr9.hg19:g.88958032G>C	ENSP00000365130:p.Phe348Leu	0					ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_5'UTR	p.F348L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	0	0	0	1.938587	Q5VYS8	TUT7_HUMAN		6	1216	-			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	1	1	hg19	c.1044C>G	CCDS35057.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.31	2.495913	0.44352	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81659	-1.52;-1.52;-1.52	5.08	3.25	0.37280	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	L	0.49640	1.575	0.41057	D	0.98534	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.994	T	0.79553	-0.1756	10	0.19147	T	0.46	-15.6626	10.941	0.47273	0.1505:0.0:0.8495:0.0	.	348;348;348;348	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	348	ENSP00000365127:F348L;ENSP00000365128:F348L;ENSP00000365130:F348L	ENSP00000365127:F348L	F	-	3	2	2	ZCCHC6	88147852	88147852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	0.720000	0.32209	0.650000	0.86243	TTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	1	0	1		2	2	2	0		0	0	71		71	70	1	2.060000	-18.364240	1	0.170000	NM_024617			44	42		301	296	1		1	1		0	0	71	0		1	9.989426e-01	0	9	0	63	0	44	301
DAPK1	1612	broad.mit.edu	37	9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000408954.3	+	3	495	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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						GTCCAGCCGGCGGGGTGTGAG	0.557									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000408954.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				72						c.(160-162)Cgg>Tgg		death-associated protein kinase 1							52.0	55.0	53.0					9																	90219966		2180	4292	6472	SO:0001583	missense	1612	0	0		Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	g.chr9:90219966C>T	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.160C>T	chr9.hg19:g.90219966C>T	ENSP00000386135:p.Arg54Trp	0					DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W	p.R54W	NM_004938.2	NP_004929.2	0	0	0	1.938587	P53355	DAPK1_HUMAN		3	495	+			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	1	1	hg19	c.160C>T	CCDS43842.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807760	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.04	4.13	0.48395	5.04	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	0.44902	D	0.000408	T	0.78848	0.4348	L	0.61387	1.9	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	T	0.81306	-0.0992	10	0.87932	D	0	.	13.9289	0.63981	0.1532:0.8468:0.0:0.0	.	54;54;54	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	W	54	ENSP00000350785:R54W;ENSP00000417076:R54W;ENSP00000418885:R54W;ENSP00000386135:R54W;ENSP00000419026:R54W	ENSP00000350785:R54W	R	+	1	2	2	DAPK1	89409786	89409786	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	1.332000	0.45431	0.511000	0.50034	CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	0	0	1		19	8	2	1		1	1	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_004938			52	52		252	247	1		1	1		1	0	49	0		9.999907e-01	9.877678e-01	0	13	0	80	0	52	252
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000408954.3	+	11	1263	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				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)			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						GCAATCCGTTCGCTTGATATC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000408954.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.997978	0.990000	1.000000																										0				72						c.(928-930)Cgc>Tgc		death-associated protein kinase 1							65.0	59.0	61.0					9																	90258300		1854	4096	5950	SO:0001583	missense	1612	0	0		Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	g.chr9:90258300C>T	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.928C>T	chr9.hg19:g.90258300C>T	ENSP00000386135:p.Arg310Cys	0					DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C	p.R310C	NM_004938.2	NP_004929.2	0	0	0	1.938587	P53355	DAPK1_HUMAN		11	1263	+			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	1	1	hg19	c.928C>T	CCDS43842.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.173017	0.94807	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.31;-0.32;-0.29	5.45	5.45	0.79879	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000072	T	0.76040	0.3932	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.64595	0.927;0.879;0.595	T	0.77747	-0.2472	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	310;310;310	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	310	ENSP00000350785:R310C;ENSP00000417076:R310C;ENSP00000418885:R310C;ENSP00000386135:R310C;ENSP00000419026:R310C	ENSP00000350785:R310C	R	+	1	0	0	DAPK1	89448120	89448120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.716000	0.92895	0.655000	0.94253	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000	NM_004938			20	18		117	116	0		1	1		0	0	28	0		9.999965e-01	9.999885e-01	0	14	0	105	0	20	117
SPIN1	10927	broad.mit.edu	37	9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	122					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413																																						ENST00000375859.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999975	0.990000	1.000000																										0				4						c.(364-366)cGa>cAa		spindlin 1							109.0	103.0	105.0					9																	91083296		2166	4279	6445	SO:0001583	missense	10927	0	0					g.chr9:91083296G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.365G>A	chr9.hg19:g.91083296G>A	ENSP00000365019:p.Arg122Gln	0					SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q	p.R122Q	NM_006717.2	NP_006708.2	0	0	0	1.938587	Q9Y657	SPIN1_HUMAN		5	643	+			A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	1	1	hg19	c.365G>A	CCDS43843.1	1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769194	0.15983	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.39787	1.06;1.06	5.12	2.26	0.28386	5.12	2.26	0.28386	.	0.241703	0.34411	N	0.003998	T	0.16811	0.0404	N	0.12920	0.275	0.58432	D	0.999997	D	0.55800	0.973	B	0.38683	0.279	T	0.32455	-0.9906	10	0.02654	T	1	-4.6556	7.4168	0.27048	0.1432:0.0:0.72:0.1368	.	122	Q9Y657	SPIN1_HUMAN	Q	122	ENSP00000365019:R122Q;ENSP00000441864:R122Q	ENSP00000365019:R122Q	R	+	2	0	0	SPIN1	90273116	90273116	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.326000	0.79133	0.318000	0.23185	-0.136000	0.14681	CGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	1	0	1		2	2	2	0		0	0	58		58	56	1	2.060000	-20.000000	1	0.170000	NM_006717			36	36		181	176	1		1	1		0	0	58	0		1	1	0	46	0	189	0	36	181
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567																																						ENST00000375807.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999905	0.990000	1.000000																										0				32						c.(1753-1755)gaC>gaT		SECIS binding protein 2							135.0	114.0	121.0					9																	91964707		2203	4300	6503	SO:0001819	synonymous_variant	79048	5	121412	37				g.chr9:91964707C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1755C>T	chr9.hg19:g.91964707C>T		0					SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	p.D585D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	0	0	0	1.938587	Q96T21	SEBP2_HUMAN		13	1826	+			F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	1	1	hg19	c.1755C>T	CCDS6683.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-19.995940	1	0.170000	NM_024077			53	52		351	343	1		1	1		0	0	92	0		1	9.995203e-01	0	19	0	58	0	53	351
SECISBP2	79048	broad.mit.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	rs554473793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20805	0.0		0.0	False		,,,				2504	0.0					ENST00000375807.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2206-2208)Cgc>Tgc		SECIS binding protein 2							200.0	187.0	191.0					9																	91972418		2203	4300	6503	SO:0001583	missense	79048	6	121412	43				g.chr9:91972418C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	chr9.hg19:g.91972418C>T	ENSP00000364965:p.Arg736Cys	0					SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	p.R736C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	0	0	0	1.938587	Q96T21	SEBP2_HUMAN		15	2277	+			F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	1	1	hg19	c.2206C>T	CCDS6683.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	0	SECISBP2	91162238	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	0	0	1		2	2	2	0		0	0	185		185	184	1	2.060000	-3.485388	1	0.170000	NM_024077			189	186		765	756	1		1	1		0	0	185	0		1	1	0	18	0	78	0	189	765
SEMA4D	10507	broad.mit.edu	37	9	91996226	91996226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	ENST00000450295.1	-	14	2258	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	494	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)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGACCACGCCCGAGTTAG	0.637																																						ENST00000450295.1	1.000000	0.840000	1	9.900000e-01	0.990000	0.990448	0.990000	1.000000																										0				34						c.(1480-1482)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							36.0	35.0	35.0					9																	91996226		2183	4275	6458	SO:0001819	synonymous_variant	10507	0	0					g.chr9:91996226G>A	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.1482C>T	chr9.hg19:g.91996226G>A		0					SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G	p.G494G			0	0	0	1.938587	Q92854	SEM4D_HUMAN		14	2258	-			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	0	1	hg19	c.1482C>T	CCDS6685.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.640720	1	0.170000	NM_006378			11	11		61	59	0		1	1		0	0	12	0		9.985653e-01	9.901276e-01	0	5	0	43	0	11	61
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562																																						ENST00000375765.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(586-588)tgC>tgT		DIRAS family, GTP-binding RAS-like 2							189.0	167.0	174.0					9																	93375522		2203	4300	6503	SO:0001819	synonymous_variant	54769	0	0					g.chr9:93375522G>A	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.588C>T	chr9.hg19:g.93375522G>A		0						p.C196C	NM_017594.3	NP_060064.2	0	0	0	1.938587	Q96HU8	DIRA2_HUMAN		2	976	-			B3KVM2	Silent	SNP	ENST00000375765.3	1	1	hg19	c.588C>T	CCDS6687.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.060000	-20.000000	1	0.170000				81	81		366	355	1		1	0		0	0	57	0		1	0	0	0	0	1	0	81	366
DIRAS2	54769	broad.mit.edu	37	9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	81					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562																																						ENST00000375765.3	1.000000	0.720000	1	8.200000e-01	0.930000	0.918884	0.930000	1.000000																										0				12						c.(241-243)Gcc>Acc		DIRAS family, GTP-binding RAS-like 2							140.0	118.0	126.0					9																	93375869		2203	4300	6503	SO:0001583	missense	54769	0	0					g.chr9:93375869C>T	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.241G>A	chr9.hg19:g.93375869C>T	ENSP00000364919:p.Ala81Thr	0						p.A81T	NM_017594.3	NP_060064.2	0	0	0	1.938587	Q96HU8	DIRA2_HUMAN		2	629	-			B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	1	1	hg19	c.241G>A	CCDS6687.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.386281	0.95967	.	.	ENSG00000165023	ENST00000375765	T	0.78246	-1.16	5.06	5.06	0.68205	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90788	0.4684	10	0.87932	D	0	.	17.9796	0.89137	0.0:1.0:0.0:0.0	.	81	Q96HU8	DIRA2_HUMAN	T	81	ENSP00000364919:A81T	ENSP00000364919:A81T	A	-	1	0	0	DIRAS2	92415689	92415689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.808000	0.96608	0.655000	0.94253	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1	1	0	1		2	2	2	0		0	0	158		158	158	1	2.060000	-14.348520	1	0.170000				59	57		660	649	0		1	0		0	0	158	0		1	1.983339e-02	0	0	0	3	0	59	660
SYK	6850	broad.mit.edu	37	9	93606405	93606405	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.A75A|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375751.4_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	75	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACCTACGCCATCGCCGGTG	0.657			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4	0.570000	0.140000	4.400000e-01	2.100000e-01	0.310000	0.334742	0.310000	0.300000				Dom	yes			Dom	yes		9	9q22	9q22	6850	T	spleen tyrosine kinase				L	L	ETV6, ITK		MDS, peripheral T-cell lymphoma		0				26						c.(223-225)gcC>gcA		spleen tyrosine kinase							53.0	42.0	46.0					9																	93606405		2203	4300	6503	SO:0001819	synonymous_variant	6850	0	0					g.chr9:93606405C>A	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.225C>A	chr9.hg19:g.93606405C>A		0					SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	p.A75A	NM_003177.5	NP_003168.2	0	0	0	1.938587	P43405	KSYK_HUMAN		2	373	+				Silent	SNP	ENST00000375754.4	0	1	hg19	c.225C>A	CCDS6688.1	0																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	0	0	0		2	2	2	0		0	0	30		30	30	1	2.060000	-8.397726	1	0.170000				7	6		258	255	1		1	1		0	0	30	0		9.799287e-01	7.098019e-01	0	9	0	81	0	7	258
SYK	6850	broad.mit.edu	37	9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A	rs201455170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.A86T|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375751.4_Missense_Mutation_p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	86	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								g|||	2	0.000399361	0.0008	0.0014	5008	,	,		15260	0.0		0.0	False		,,,				2504	0.0					ENST00000375754.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999973	0.990000	1.000000				Dom	yes			Dom	yes		9	9q22	9q22	6850	T	spleen tyrosine kinase				L	L	ETV6, ITK		MDS, peripheral T-cell lymphoma		0				26						c.(256-258)Gcc>Acc		spleen tyrosine kinase							35.0	33.0	33.0					9																	93606436		2203	4300	6503	SO:0001583	missense	6850	5	121408	34				g.chr9:93606436G>A	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.256G>A	chr9.hg19:g.93606436G>A	ENSP00000364907:p.Ala86Thr	0					SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	p.A86T	NM_003177.5	NP_003168.2	0	0	0	1.938587	P43405	KSYK_HUMAN		2	404	+				Missense_Mutation	SNP	ENST00000375754.4	1	1	hg19	c.256G>A	CCDS6688.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.34	3.808139	0.70797	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.79	4.79	0.61399	4.79	4.79	0.61399	SH2 motif (4);	0.115291	0.64402	D	0.000014	D	0.87501	0.6193	N	0.16903	0.455	0.49130	D	0.999752	D;D;D	0.67145	0.992;0.993;0.996	P;P;P	0.56398	0.553;0.681;0.797	D	0.87018	0.2127	10	0.32370	T	0.25	.	18.0426	0.89323	0.0:0.0:1.0:0.0	.	86;86;86	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	T	86	ENSP00000364907:A86T;ENSP00000364904:A86T;ENSP00000364899:A86T;ENSP00000364898:A86T	ENSP00000364898:A86T	A	+	1	0	0	SYK	92646257	92646257	0.996000	0.38824	0.626000	0.29213	0.503000	0.33858	5.814000	0.69208	2.495000	0.84180	0.556000	0.70494	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	1	0	0		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000				43	41		242	235	1		1	1		0	0	38	0		1	9.999928e-01	0	18	0	85	0	43	242
SYK	6850	broad.mit.edu	37	9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375747.1_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375751.4_Missense_Mutation_p.L538S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	561	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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		9	9q22	9q22	6850	T	spleen tyrosine kinase				L	L	ETV6, ITK		MDS, peripheral T-cell lymphoma		0				26						c.(1681-1683)tTg>tCg		spleen tyrosine kinase							156.0	150.0	152.0					9																	93650131		2203	4300	6503	SO:0001583	missense	6850	0	0					g.chr9:93650131T>C	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.1682T>C	chr9.hg19:g.93650131T>C	ENSP00000364907:p.Leu561Ser	0					SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	p.L561S	NM_003177.5	NP_003168.2	0	0	0	1.938587	P43405	KSYK_HUMAN		12	1830	+				Missense_Mutation	SNP	ENST00000375754.4	1	1	hg19	c.1682T>C	CCDS6688.1	1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774724	0.49786	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.78	3.65	0.41850	4.78	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.76062	0.3935	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76913	-0.2783	10	0.72032	D	0.01	.	10.1934	0.43041	0.0:0.0784:0.0:0.9216	.	538;561	P43405-2;P43405	.;KSYK_HUMAN	S	561;538;538;561	ENSP00000364907:L561S;ENSP00000364904:L538S;ENSP00000364899:L538S;ENSP00000364898:L561S	ENSP00000364898:L561S	L	+	2	0	0	SYK	92689952	92689952	0.709000	0.27886	0.282000	0.24776	0.653000	0.38743	3.642000	0.54367	0.857000	0.35407	0.379000	0.24179	TTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	1	0	1		2	2	2	0		0	0	173		173	170	1	2.060000	-20.000000	1	0.170000				152	150		685	662	1		1	1		0	0	173	0		1	9.999990e-01	0	24	0	64	0	152	685
AUH	549	broad.mit.edu	37	9	93978386	93978386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	299					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)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338																																						ENST00000375731.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(895-897)gtC>gtT		AU RNA binding protein/enoyl-CoA hydratase							117.0	109.0	112.0					9																	93978386		2203	4300	6503	SO:0001819	synonymous_variant	549	0	0					g.chr9:93978386G>A	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.897C>T	chr9.hg19:g.93978386G>A		0					AUH_ENST00000303617.5_Silent_p.V270V	p.V299V	NM_001698.2	NP_001689.1	0	0	0	1.938587	Q13825	AUHM_HUMAN		9	920	-			B1ALV7|B1ALV8|Q8WUE4	Silent	SNP	ENST00000375731.4	1	1	hg19	c.897C>T	CCDS6689.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.230478	1	0.170000				50	49		232	231	1		1	1		0	0	71	0		1	9.995263e-01	0	2	0	54	0	50	232
AUH	549	broad.mit.edu	37	9	93979605	93979605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	ENST00000375731.4	-	8	871	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_ENST00000303617.5_Missense_Mutation_p.P254H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	283					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)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CATTGCAACAGGTCCCTAAAA	0.343																																						ENST00000375731.4	1.000000	0.550000	1	6.800000e-01	0.830000	0.836179	0.830000	1.000000																										0				11						c.(847-849)cCt>cAt		AU RNA binding protein/enoyl-CoA hydratase							96.0	90.0	92.0					9																	93979605		2203	4300	6503	SO:0001583	missense	549	0	0					g.chr9:93979605G>T	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.848C>A	chr9.hg19:g.93979605G>T	ENSP00000364883:p.Pro283His	0					AUH_ENST00000303617.5_Missense_Mutation_p.P254H	p.P283H	NM_001698.2	NP_001689.1	0	0	0	1.938587	Q13825	AUHM_HUMAN		8	871	-			B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	1	1	hg19	c.848C>A	CCDS6689.1	0	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436352	0.83885	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.80480	-1.38;-1.38	5.21	5.21	0.72293	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.052276	0.85682	D	0.000000	D	0.93546	0.7940	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95237	0.8348	10	0.72032	D	0.01	.	18.9459	0.92622	0.0:0.0:1.0:0.0	.	254;283	Q13825-2;Q13825	.;AUHM_HUMAN	H	283;254	ENSP00000364883:P283H;ENSP00000307334:P254H	ENSP00000307334:P254H	P	-	2	0	0	AUH	93019426	93019426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.733000	0.91539	2.722000	0.93159	0.591000	0.81541	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1	0	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-2.841679	1	0.170000				24	24		302	299	0		1	1		0	0	61	0		9.999997e-01	9.266158e-01	0	6	0	52	0	24	302
NFIL3	4783	broad.mit.edu	37	9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	253					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)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(757-759)tCt>tTt		nuclear factor, interleukin 3 regulated							124.0	128.0	126.0					9																	94172259		2203	4300	6503	SO:0001583	missense	4783	0	0					g.chr9:94172259G>A	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.758C>T	chr9.hg19:g.94172259G>A	ENSP00000297689:p.Ser253Phe	0						p.S253F	NM_005384.2	NP_005375.2	0	0	0	1.938587	Q16649	NFIL3_HUMAN		2	1152	-			B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	1	1	hg19	c.758C>T	CCDS6690.1	1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381410	0.24944	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	4.65	0.58169	4.65	4.65	0.58169	Vertebrate interleukin-3 regulated transcription factor (1);	0.644741	0.14767	N	0.299652	T	0.37320	0.0999	L	0.47716	1.5	0.09310	N	1	P	0.42203	0.773	P	0.44518	0.452	T	0.13098	-1.0522	9	0.10636	T	0.68	-9.2061	9.8799	0.41227	0.0:0.139:0.6984:0.1626	.	253	Q16649	NFIL3_HUMAN	F	253	.	ENSP00000297689:S253F	S	-	2	0	0	NFIL3	93212080	93212080	0.794000	0.28838	0.005000	0.12908	0.093000	0.18481	4.517000	0.60503	2.429000	0.82318	0.561000	0.74099	TCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	1	0	1		2	2	2	0		0	0	127		127	125	1	2.060000	-3.239484	1	0.170000	NM_005384			112	112		454	447	1		1	1		0	0	127	0		1	1	0	5	0	95	0	112	454
ROR2	4920	broad.mit.edu	37	9	94486406	94486406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	790	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677																																						ENST00000375708.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(2368-2370)aaG>aaA		receptor tyrosine kinase-like orphan receptor 2							51.0	56.0	54.0					9																	94486406		2203	4300	6503	SO:0001819	synonymous_variant	4920	0	0					g.chr9:94486406C>T	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.2370G>A	chr9.hg19:g.94486406C>T		0					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.K790K	NM_004560.3	NP_004551.2	0	0	0	1.938587	Q01974	ROR2_HUMAN		9	2568	-			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	1	1	hg19	c.2370G>A	CCDS6691.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1	1	0	0		2	2	2	0		0	0	77		77	74	1	2.060000	-20.000000	1	0.170000				87	87		446	441	1		1	0		0	0	77	0		1	9.890538e-01	0	0	0	38	0	87	446
SPTLC1	10558	broad.mit.edu	37	9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	288					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTCAGTGACTCCTCGGCCATG	0.388																																						ENST00000262554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(862-864)gGa>gAa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)						159.0	147.0	151.0					9																	94812267		2203	4300	6503	SO:0001583	missense	10558	0	0					g.chr9:94812267C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.863G>A	chr9.hg19:g.94812267C>T	ENSP00000262554:p.Gly288Glu	0						p.G288E	NM_006415.2	NP_006406.1	0	0	0	1.938587	O15269	SPTC1_HUMAN		9	868	-			A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	1	1	hg19	c.863G>A	CCDS6692.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811721	0.90707	.	.	ENSG00000090054	ENST00000262554	D	0.96427	-4.01	4.66	4.66	0.58398	4.66	4.66	0.58398	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056205	0.64402	D	0.000001	D	0.98927	0.9636	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.997;0.994	D	0.99425	1.0934	10	0.87932	D	0	-15.9455	17.7986	0.88579	0.0:1.0:0.0:0.0	.	288;288	Q6NUL7;O15269	.;SPTC1_HUMAN	E	288	ENSP00000262554:G288E	ENSP00000262554:G288E	G	-	2	0	0	SPTLC1	93852088	93852088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1		2	2	2	0		0	0	139		139	137	1	2.060000	-3.361625	1	0.170000	NM_006415			101	100		468	463	1		1	1		0	0	139	0		1	1	0	88	0	253	0	101	468
SPTLC1	10558	broad.mit.edu	37	9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	121					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GATGCTAAAGCTGCTGCCTTT	0.363																																						ENST00000262554.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(361-363)Gct>Act		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)						78.0	76.0	76.0					9																	94842364		2203	4300	6503	SO:0001583	missense	10558	0	0					g.chr9:94842364C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.361G>A	chr9.hg19:g.94842364C>T	ENSP00000262554:p.Ala121Thr	0					SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T|SPTLC1_ENST00000482632.1_5'UTR	p.A121T	NM_006415.2	NP_006406.1	0	0	0	1.938587	O15269	SPTC1_HUMAN		5	366	-			A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	1	1	hg19	c.361G>A	CCDS6692.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032641	0.93575	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95554	-2.83;-3.74	5.44	5.44	0.79542	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.995;0.997	D;D;D;D	0.77557	0.987;0.921;0.973;0.99	D	0.98626	1.0669	10	0.87932	D	0	-19.3186	19.0495	0.93038	0.0:1.0:0.0:0.0	.	121;121;116;121	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	121	ENSP00000262554:A121T;ENSP00000337635:A121T	ENSP00000262554:A121T	A	-	1	0	0	SPTLC1	93882185	93882185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-20.000000	1	0.170000	NM_006415			62	60		283	274	1		1	1		0	0	60	0		1	1	0	98	0	250	0	62	283
IARS	3376	broad.mit.edu	37	9	95014113	95014113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95014113G>T	ENST00000375643.3	-	22	2550	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000375629.3_De_novo_Start_InFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	762					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGAAAGCAGAACACTAAAC	0.418																																						ENST00000375643.3	0.480000	0.110000	3.700000e-01	1.700000e-01	0.260000	0.278642	0.260000	0.250000																										0				35						c.(2284-2286)Ctg>Atg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						162.0	140.0	147.0					9																	95014113		2203	4300	6503	SO:0001583	missense	3376	0	0					g.chr9:95014113G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2284C>A	chr9.hg19:g.95014113G>T	ENSP00000364794:p.Leu762Met	0					IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000375629.3_De_novo_Start_InFrame	p.L762M	NM_013417.2	NP_038203.2	0	0	0	1.938587	P41252	SYIC_HUMAN		22	2550	-			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	0	1	hg19	c.2284C>A	CCDS6694.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009501	0.75046	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.20200	2.09;2.09;2.09	5.72	4.83	0.62350	5.72	4.83	0.62350	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.59867	-0.7373	10	0.87932	D	0	-10.5957	11.8558	0.52437	0.1439:0.0:0.8561:0.0	.	762;607	P41252;Q6P0M4	SYIC_HUMAN;.	M	762;762;652;762	ENSP00000364794:L762M;ENSP00000406448:L762M;ENSP00000415020:L652M	ENSP00000364794:L762M	L	-	1	2	2	IARS	94053934	94053934	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	4.005000	0.57075	1.446000	0.47643	0.655000	0.94253	CTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	0	0	1		2	2	2	0		0	0	58		58	57	1	2.060000	-3.821405	1	0.170000	NM_002161			7	7		313	310	0		1	1		0	0	58	0		9.802485e-01	9.452803e-01	0	15	0	217	0	7	313
IARS	3376	broad.mit.edu	37	9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	694					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448																																						ENST00000375643.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				35						c.(2080-2082)Cgg>Tgg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						138.0	130.0	132.0					9																	95019019		2203	4300	6503	SO:0001583	missense	3376	0	0					g.chr9:95019019G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2080C>T	chr9.hg19:g.95019019G>A	ENSP00000364794:p.Arg694Trp	0					IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR	p.R694W	NM_013417.2	NP_038203.2	0	0	0	1.938587	P41252	SYIC_HUMAN		20	2346	-			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	1	1	hg19	c.2080C>T	CCDS6694.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109921	0.77210	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.19532	2.14;2.14;2.14	5.7	2.68	0.31781	5.7	2.68	0.31781	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.213106	0.47093	D	0.000245	T	0.51160	0.1658	H	0.94423	3.535	0.80722	D	1	D;D	0.57257	0.979;0.977	D;P	0.64595	0.927;0.832	T	0.58470	-0.7631	10	0.87932	D	0	-8.1626	8.8918	0.35439	0.0739:0.0:0.5729:0.3532	.	694;539	P41252;Q6P0M4	SYIC_HUMAN;.	W	694;694;584;694	ENSP00000364794:R694W;ENSP00000406448:R694W;ENSP00000415020:R584W	ENSP00000364794:R694W	R	-	1	2	2	IARS	94058840	94058840	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	2.387000	0.44389	0.741000	0.32674	-0.314000	0.08810	CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-2.828508	1	0.170000	NM_002161			50	48		259	254	1		1	1		0	0	67	0		1	1	0	45	0	172	0	50	259
IARS	3376	broad.mit.edu	37	9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	409					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478																																						ENST00000375643.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				35						c.(1225-1227)tAc>tGc		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						120.0	105.0	110.0					9																	95032245		2203	4300	6503	SO:0001583	missense	3376	0	0					g.chr9:95032245T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1226A>G	chr9.hg19:g.95032245T>C	ENSP00000364794:p.Tyr409Cys	0					IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000375629.3_5'UTR	p.Y409C	NM_013417.2	NP_038203.2	0	0	0	1.938587	P41252	SYIC_HUMAN		13	1492	-			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	1	1	hg19	c.1226A>G	CCDS6694.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413486	0.83449	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.39229	1.09;1.09;1.09	5.61	5.61	0.85477	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	10	0.87932	D	0	-14.5538	14.789	0.69824	0.0:0.0:0.0:1.0	.	409;254	P41252;Q6P0M4	SYIC_HUMAN;.	C	409;409;299;409	ENSP00000364794:Y409C;ENSP00000406448:Y409C;ENSP00000415020:Y299C	ENSP00000364794:Y409C	Y	-	2	0	0	IARS	94072066	94072066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.648000	0.83479	2.143000	0.66587	0.533000	0.62120	TAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	1		2	2	2	0		0	0	52		52	51	1	2.060000	-20.000000	1	0.170000	NM_002161			39	39		196	192	1		1	1		0	0	52	0		1	1	0	53	0	135	0	39	196
IARS	3376	broad.mit.edu	37	9	95043153	95043153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375643.3	-	7	886	c.620T>G	c.(619-621)tTt>tGt	p.F207C	IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	207					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368																																						ENST00000375643.3	0.890000	0.240000	7.000000e-01	3.500000e-01	0.510000	0.534242	0.510000	0.480000																										0				35						c.(619-621)tTt>tGt		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						76.0	70.0	72.0					9																	95043153		2203	4300	6503	SO:0001583	missense	3376	0	0					g.chr9:95043153A>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.620T>G	chr9.hg19:g.95043153A>C	ENSP00000364794:p.Phe207Cys	0					IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	p.F207C	NM_013417.2	NP_038203.2	0	0	0	1.938587	P41252	SYIC_HUMAN		7	886	-			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	1	0	hg19	c.620T>G	CCDS6694.1	0	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508576	0.85282	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.41	5.41	0.78517	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.052475	0.64402	D	0.000001	D	0.87305	0.6144	M	0.85099	2.735	0.80722	D	1	P;P	0.52170	0.903;0.951	P;P	0.58520	0.796;0.84	D	0.89453	0.3731	10	0.87932	D	0	-22.2468	14.7139	0.69254	1.0:0.0:0.0:0.0	.	207;52	P41252;Q6P0M4	SYIC_HUMAN;.	C	207;207;97;207;207	ENSP00000364794:F207C;ENSP00000406448:F207C;ENSP00000415020:F97C;ENSP00000378922:F207C	ENSP00000364794:F207C	F	-	2	0	0	IARS	94082974	94082974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.169000	0.68431	0.533000	0.62120	TTT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-11.471270	1	0.170000	NM_002161			8	7		176	175	0		1	1		0	0	30	0		9.893848e-01	9.621188e-01	0	5	0	123	0	8	176
NOL8	55035	broad.mit.edu	37	9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000535387.1	-	9	2704	c.2705A>C	c.(2704-2706)aAa>aCa	p.K902T	NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343																																						ENST00000535387.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2704-2706)aAa>aCa		nucleolar protein 8							182.0	181.0	181.0					9																	95069174		1843	4098	5941	SO:0001583	missense	55035	0	0					g.chr9:95069174T>G	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.2705A>C	chr9.hg19:g.95069174T>G	ENSP00000441300:p.Lys902Thr	0					NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T	p.K902T			0	0	0	1.938587				9	2704	-				Missense_Mutation	SNP	ENST00000535387.1	1	1	hg19	c.2705A>C	CCDS47993.1	1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896931	0.72639	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.249376	0.44902	D	0.000408	T	0.37679	0.1012	L	0.54908	1.71	0.38998	D	0.959286	P;D	0.53312	0.879;0.959	B;P	0.47744	0.36;0.556	T	0.38415	-0.9662	10	0.72032	D	0.01	-25.1845	13.73	0.62781	0.0:0.0:0.0:1.0	.	872;940	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	940;904;872;940;902;872;940	ENSP00000401177:K940T;ENSP00000351723:K872T;ENSP00000441140:K940T;ENSP00000441300:K902T;ENSP00000440709:K872T;ENSP00000414112:K940T	ENSP00000351723:K872T	K	-	2	0	0	NOL8	94108995	94108995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.238000	0.73509	0.477000	0.44152	AAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	1		2	2	2	0		0	0	136		136	134	1	2.060000	-20.000000	1	0.170000	NM_017948			116	114		456	444	1		1	1		0	0	136	0		1	1	0	28	0	84	0	116	456
NOL8	55035	broad.mit.edu	37	9	95073540	95073540	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000442668.2_Splice_Site_p.D787G					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438																																						ENST00000545558.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999974	0.990000	1.000000																										0				16						c.(2359-2361)gAt>gGt		nucleolar protein 8							98.0	86.0	90.0					9																	95073540		1949	4136	6085	SO:0001630	splice_region_variant	55035	1	120796	23				g.chr9:95073540T>C	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	ENST00000545558.1:c.2359-1A>G	chr9.hg19:g.95073540T>C		0					NOL8_ENST00000535387.1_Intron|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000442668.2_Splice_Site_p.D787G	p.D787G			0	0	0	1.938587				8	2852	-				Splice_Site	SNP	ENST00000545558.1	1	0	hg19	c.2360A>G	CCDS47993.1	1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343763	0.61073	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.52754	2.04;2.04;2.04;2.04;0.65	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.099953	0.64402	D	0.000003	T	0.65678	0.2714	M	0.67953	2.075	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.965	T	0.69363	-0.5165	10	0.72032	D	0.01	-18.7307	13.577	0.61879	0.0:0.0:0.0:1.0	.	719;787	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	G	787;719;787;719;787	ENSP00000401177:D787G;ENSP00000351723:D719G;ENSP00000441140:D787G;ENSP00000440709:D719G;ENSP00000414112:D787G	ENSP00000351723:D719G	D	-	2	0	0	NOL8	94113361	94113361	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.488000	0.53229	1.941000	0.56285	0.524000	0.50904	GAT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402684.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-18.538460	1	0.170000	NM_017948	Missense_Mutation		27	27		106	105	1		1	1		0	0	20	0		1	9.999938e-01	0	23	0	59	0	27	106
NOL8	55035	broad.mit.edu	37	9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A	rs189619241	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000535387.1	-	6	937	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000442668.2_Missense_Mutation_p.A313V					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTCCTCTTTCGCAATCATCAT	0.368													G|||	7	0.00139776	0.0	0.0014	5008	,	,		20596	0.0		0.006	False		,,,				2504	0.0					ENST00000535387.1	1.000000	0.810000	1	9.900000e-01	0.990000	0.987630	0.990000	1.000000																										0				16						c.(937-939)gCg>gTg		nucleolar protein 8		G	VAL/ALA	1,3715		0,1,1857	56.0	50.0	52.0		938	3.8	0.8	9		52	26,8162		0,26,4068	yes	missense	NOL8	NM_017948.5	64	0,27,5925	AA,AG,GG		0.3175,0.0269,0.2268	probably-damaging	313/1168	95077969	27,11877	1858	4094	5952	SO:0001583	missense	55035	277	120782	53				g.chr9:95077969G>A	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.938C>T	chr9.hg19:g.95077969G>A	ENSP00000441300:p.Ala313Val	0					NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000442668.2_Missense_Mutation_p.A313V	p.A313V			0	0	0	1.938587				6	937	-				Missense_Mutation	SNP	ENST00000535387.1	0	0	hg19	c.938C>T	CCDS47993.1	1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	15.25	2.779031	0.49891	2.69E-4	0.003175	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.53640	2.18;2.2;2.18;2.4;2.2;1.91;0.61	5.68	3.77	0.43336	5.68	3.77	0.43336	.	0.488728	0.22924	N	0.053997	T	0.32041	0.0816	L	0.38175	1.15	0.27918	N	0.938353	D	0.59767	0.986	P	0.45119	0.47	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.3451	10.2172	0.43175	0.0:0.1172:0.4945:0.3883	.	313	Q76FK4	NOL8_HUMAN	V	313;315;245;313;313;245;313;313	ENSP00000401177:A313V;ENSP00000351723:A245V;ENSP00000441140:A313V;ENSP00000441300:A313V;ENSP00000440709:A245V;ENSP00000414112:A313V;ENSP00000412471:A313V	ENSP00000351723:A245V	A	-	2	0	0	NOL8	94117790	94117790	0.272000	0.24172	0.824000	0.32777	0.633000	0.38033	0.922000	0.28734	0.688000	0.31529	0.650000	0.86243	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	0		2	2	2	0		0	0	18		18	18	1	2.060000	-3.574676	1	0.170000	NM_017948			13	14		85	82	1		1	1		0	0	18	0		9.996084e-01	9.952071e-01	0	12	0	50	0	13	85
NOL8	55035	broad.mit.edu	37	9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000535387.1	-	6	862	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353																																						ENST00000535387.1	1.000000	0.800000	1	9.900000e-01	0.990000	0.985228	0.990000	1.000000																										0				16						c.(862-864)tTg>tCg		nucleolar protein 8							43.0	39.0	40.0					9																	95078044		1831	4094	5925	SO:0001583	missense	55035	1	120776	22				g.chr9:95078044A>G	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.863T>C	chr9.hg19:g.95078044A>G	ENSP00000441300:p.Leu288Ser	0					NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S	p.L288S			0	0	0	1.938587				6	862	-				Missense_Mutation	SNP	ENST00000535387.1	0	1	hg19	c.863T>C	CCDS47993.1	1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178662	0.21787	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.52;2.52;2.52;2.74;2.52;2.26;0.92	5.57	3.22	0.36961	5.57	3.22	0.36961	.	1.237480	0.05257	N	0.515005	T	0.26448	0.0646	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.21381	-1.0247	10	0.26408	T	0.33	-0.3825	4.0438	0.09763	0.492:0.2688:0.2392:0.0	.	288	Q76FK4	NOL8_HUMAN	S	288;290;220;288;288;220;288;288	ENSP00000401177:L288S;ENSP00000351723:L220S;ENSP00000441140:L288S;ENSP00000441300:L288S;ENSP00000440709:L220S;ENSP00000414112:L288S;ENSP00000412471:L288S	ENSP00000351723:L220S	L	-	2	0	0	NOL8	94117865	94117865	0.003000	0.15002	0.206000	0.23566	0.197000	0.23852	1.841000	0.39240	0.926000	0.37118	0.528000	0.53228	TTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-19.999990	1	0.170000	NM_017948			16	16		118	117	1		1	1		0	0	24	0		9.999492e-01	9.577735e-01	0	8	0	34	0	16	118
ECM2	1842	broad.mit.edu	37	9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECM2_ENST00000444490.2_Splice_Site|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	183					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403																																						ENST00000344604.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(547-549)Gaa>Taa		extracellular matrix protein 2, female organ and adipocyte specific							61.0	62.0	61.0					9																	95277420		2203	4300	6503	SO:0001587	stop_gained	1842	0	0					g.chr9:95277420C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.547G>T	chr9.hg19:g.95277420C>A	ENSP00000344758:p.Glu183*	0					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Splice_Site	p.E183*	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	0	0	0	1.938587	O94769	ECM2_HUMAN		4	696	-			B2R730|E2PU11|Q5T9F2|Q7Z3D0	Nonsense_Mutation	SNP	ENST00000344604.5	0	1	hg19	c.547G>T	CCDS6698.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801349|3.801349	0.70567|0.70567	.|.	.|.	ENSG00000106823|ENSG00000106823	ENST00000444490|ENST00000344604	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.501876	.|0.22979	.|N	.|0.053335	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.46703	.|T	.|0.11	.|.	13.8795|13.8795	0.63674|0.63674	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|.	.|.	.|.	.|X	-1|183	.|.	.|ENSP00000344758:E183X	.|E	-|-	.|1	.|0	.|0	ECM2|ECM2	94317241|94317241	94317241|94317241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.029000|4.029000	0.57253|0.57253	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	.|GAA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_001393			75	74		243	232	0		1	0		0	0	55	0		1	9.997616e-01	0	0	0	43	0	75	243
ECM2	1842	broad.mit.edu	37	9	95284865	95284865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95284865A>G	ENST00000344604.5	-	2	433	c.284T>C	c.(283-285)gTg>gCg	p.V95A	ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	95					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACCTGGTAACACATTATAACT	0.418																																						ENST00000344604.5	1.000000	0.570000	1	7.600000e-01	0.980000	0.908113	0.980000	1.000000																										0				27						c.(283-285)gTg>gCg		extracellular matrix protein 2, female organ and adipocyte specific							48.0	51.0	50.0					9																	95284865		2202	4300	6502	SO:0001583	missense	1842	0	0					g.chr9:95284865A>G	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.284T>C	chr9.hg19:g.95284865A>G	ENSP00000344758:p.Val95Ala	0					ECM2_ENST00000375540.1_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.V95A	p.V95A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	0	0	0	1.938587	O94769	ECM2_HUMAN		2	433	-			B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	0	1	hg19	c.284T>C	CCDS6698.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089048	0.76756	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.140060	0.47455	D	0.000237	T	0.53883	0.1824	M	0.64997	1.995	0.49687	D	0.999812	D;D;D;D	0.69078	0.962;0.996;0.988;0.997	P;P;P;P	0.61800	0.53;0.787;0.696;0.894	T	0.58446	-0.7635	10	0.87932	D	0	.	14.7117	0.69238	1.0:0.0:0.0:0.0	.	95;95;95;95	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	A	95	ENSP00000393971:V95A;ENSP00000344758:V95A;ENSP00000364690:V95A;ENSP00000378905:V95A	ENSP00000344758:V95A	V	-	2	0	0	ECM2	94324686	94324686	0.987000	0.35691	0.988000	0.46212	0.983000	0.72400	5.813000	0.69201	2.214000	0.71695	0.528000	0.53228	GTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	0	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-19.774230	1	0.170000	NM_001393			14	14		147	142	0		1	0		0	0	36	0		9.997475e-01	9.794989e-01	0	0	0	71	0	14	147
BICD2	23299	broad.mit.edu	37	9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000375512.3	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000356884.6_Missense_Mutation_p.S605I	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	605					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677																																						ENST00000375512.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1813-1815)aGc>aTc		bicaudal D homolog 2 (Drosophila)							26.0	24.0	25.0					9																	95481113		2196	4296	6492	SO:0001583	missense	23299	0	0					g.chr9:95481113C>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1814G>T	chr9.hg19:g.95481113C>A	ENSP00000364662:p.Ser605Ile	0					BICD2_ENST00000356884.6_Missense_Mutation_p.S605I	p.S605I	NM_015250.3	NP_056065.1	0	0	0	1.938587	Q8TD16	BICD2_HUMAN		5	1881	-			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	1	1	hg19	c.1814G>T	CCDS6700.1	1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948065	0.34377	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.27	0.50696	5.18	4.27	0.50696	.	0.256048	0.45606	D	0.000344	T	0.34774	0.0909	L	0.34521	1.04	0.26791	N	0.969393	P;P	0.45474	0.859;0.772	B;P	0.46629	0.387;0.522	T	0.12604	-1.0541	10	0.36615	T	0.2	-22.7187	7.5499	0.27790	0.0:0.8025:0.0:0.1975	.	605;605	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	I	605	ENSP00000349351:S605I;ENSP00000364662:S605I	ENSP00000349351:S605I	S	-	2	0	0	BICD2	94520934	94520934	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.114000	0.41911	1.307000	0.44944	0.561000	0.74099	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_015250			42	42		148	145	0		1	1		0	0	22	0		1	9.996996e-01	0	13	0	34	0	42	148
ZNF484	83744	broad.mit.edu	37	9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000375495.3	-	5	2099	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423																																						ENST00000375495.3	1.000000	0.730000	1	8.600000e-01	0.990000	0.949782	0.990000	1.000000																										0				33						c.(1951-1953)Ctc>Atc		zinc finger protein 484							83.0	84.0	84.0					9																	95609118		2203	4300	6503	SO:0001583	missense	83744	0	0					g.chr9:95609118G>T	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.1951C>A	chr9.hg19:g.95609118G>T	ENSP00000364645:p.Leu651Ile	0					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I	p.L651I	NM_031486.2	NP_113674.1	0	0	0	1.938587	Q5JVG2	ZN484_HUMAN		5	2099	-			B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	1	1	hg19	c.1951C>A	CCDS35066.1	1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107570	0.37145	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.36	2.36	0.29203	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69922	0.3165	M	0.84846	2.72	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.999	T	0.55829	-0.8079	9	0.62326	D	0.03	.	5.0637	0.14570	0.1664:0.0:0.8336:0.0	.	653;651	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	615;653;651;615	ENSP00000378881:L615I;ENSP00000378882:L653I;ENSP00000364645:L651I;ENSP00000364646:L615I	ENSP00000364646:L615I	L	-	1	0	0	ZNF484	94648939	94648939	0.999000	0.42202	1.000000	0.80357	0.905000	0.53344	3.262000	0.51538	1.622000	0.50330	0.551000	0.68910	CTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	XM_046861			38	38		389	383	0		1	1		0	0	63	0		1	3.332366e-01	0	2	0	11	0	38	389
ZNF484	83744	broad.mit.edu	37	9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000375495.3	-	5	1100	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428																																						ENST00000375495.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(952-954)Cgt>Tgt		zinc finger protein 484							100.0	95.0	97.0					9																	95610117		2203	4300	6503	SO:0001583	missense	83744	4	121412	36				g.chr9:95610117G>A	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.952C>T	chr9.hg19:g.95610117G>A	ENSP00000364645:p.Arg318Cys	0					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C	p.R318C	NM_031486.2	NP_113674.1	0	0	0	1.938587	Q5JVG2	ZN484_HUMAN		5	1100	-			B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	1	1	hg19	c.952C>T	CCDS35066.1	1	.	.	.	.	.	.	.	.	.	.	.	6.193	0.403864	0.11754	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.44	1.53	0.23141	2.44	1.53	0.23141	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.34452	0.183;0.118	T	0.34304	-0.9834	9	0.87932	D	0	.	8.5598	0.33503	0.0:0.0:0.7684:0.2316	.	320;318	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	282;320;318;282	ENSP00000378881:R282C;ENSP00000378882:R320C;ENSP00000364645:R318C;ENSP00000364646:R282C	ENSP00000364646:R282C	R	-	1	0	0	ZNF484	94649938	94649938	0.000000	0.05858	0.044000	0.18714	0.170000	0.22686	-0.166000	0.09954	0.585000	0.29608	-0.172000	0.13284	CGT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-2.500372	1	0.170000	XM_046861			67	67		331	326	1		1	1		0	0	94	0		1	6.266634e-01	0	3	0	9	0	67	331
NINJ1	4814	broad.mit.edu	37	9	95888858	95888858	+	Silent	SNP	G	G	A	rs538594312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	46					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCTCGGCTGCGCTCTTCTTGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15865	0.0		0.0	False		,,,				2504	0.001					ENST00000375446.4	0.430000	0.130000	3.500000e-01	1.900000e-01	0.250000	0.272577	0.250000	0.250000																										0				4						c.(136-138)agC>agT		ninjurin 1							98.0	80.0	86.0					9																	95888858		2203	4300	6503	SO:0001819	synonymous_variant	4814	8	121410	41				g.chr9:95888858G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.138C>T	chr9.hg19:g.95888858G>A		0					NINJ1_ENST00000489274.1_5'Flank	p.S46S	NM_004148.3	NP_004139.2	0	0	0	1.938587	Q92982	NINJ1_HUMAN		2	208	-			Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	0	1	hg19	c.138C>T	CCDS6703.1	0																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	0	0	0		2	2	2	0		0	0	88		88	88	1	2.060000	-3.166626	1	0.170000	NM_004148			11	10		484	476	0		1	1		0	0	88	0		9.981913e-01	6.846977e-01	0	2	0	101	0	11	484
WNK2	65268	broad.mit.edu	37	9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000395475.2_Missense_Mutation_p.T194M|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667																																						ENST00000297954.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999515	0.990000	1.000000																										0				54						c.(622-624)aCg>aTg		WNK lysine deficient protein kinase 2							38.0	38.0	38.0					9																	95947834		2202	4299	6501	SO:0001583	missense	65268	0	0					g.chr9:95947834C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.623C>T	chr9.hg19:g.95947834C>T	ENSP00000297954:p.Thr208Met	0					WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M	p.T208M	NM_001282394.1	NP_001269323.1	0	0	0	1.938587	Q9Y3S1	WNK2_HUMAN		1	623	+			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	1	1	hg19	c.623C>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932178|3.932178	0.73442|0.73442	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	4.34|4.34	4.34|4.34	0.51931|0.51931	4.34|4.34	4.34|4.34	0.51931|0.51931	.|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|T	0.77287|0.77287	0.4108|0.4108	L|L	0.45581|0.45581	1.43|1.43	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	0.80564|0.80564	-0.1326|-0.1326	5|10	.|0.87932	.|D	.|0	.|.	16.8414|16.8414	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;208;208;208	.|Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|M	204|208;208;208;194	.|ENSP00000412465:T208M;ENSP00000297954:T208M;ENSP00000378860:T208M;ENSP00000378858:T194M	.|ENSP00000297954:T208M	R|T	+|+	1|2	2|0	2|0	WNK2|WNK2	94987655|94987655	94987655|94987655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	5.818000|5.818000	0.69236|0.69236	2.132000|2.132000	0.65825|0.65825	0.561000|0.561000	0.74099|0.74099	CGG|ACG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	1		2	2	2	0		0	0	23		23	22	1	2.060000	-20.000000	1	0.170000	NM_006648			23	23		119	116	1		1	0		0	0	23	0		9.999996e-01	5.614079e-01	0	1	0	10	0	23	119
WNK2	65268	broad.mit.edu	37	9	96031161	96031161	+	Missense_Mutation	SNP	G	G	A	rs555093767	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96031161G>A	ENST00000297954.4	+	19	4073	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	WNK2_ENST00000395475.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.R970H	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1358					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCCATGGCGCAGAGCAGCC	0.592													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17813	0.0		0.0	False		,,,				2504	0.001					ENST00000297954.4	1.000000	0.550000	1	8.700000e-01	0.990000	0.946792	0.990000	1.000000																										0				54						c.(4072-4074)cGc>cAc		WNK lysine deficient protein kinase 2							7.0	7.0	7.0					9																	96031161		871	1980	2851	SO:0001583	missense	65268	37	119042	44				g.chr9:96031161G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4073G>A	chr9.hg19:g.96031161G>A	ENSP00000297954:p.Arg1358His	0					WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron	p.R1358H	NM_001282394.1	NP_001269323.1	0	0	0	1.938587	Q9Y3S1	WNK2_HUMAN		19	4073	+			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	0	1	hg19	c.4073G>A		1	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049891	0.19827	.	.	ENSG00000165238	ENST00000297954;ENST00000349097	T;T	0.32515	1.45;1.45	3.71	-5.99	0.02213	3.71	-5.99	0.02213	.	4.641330	0.00166	N	0.000016	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	9	0.34782	T	0.22	.	1.1838	0.01850	0.1995:0.1365:0.3616:0.3024	.	1358	Q9Y3S1	WNK2_HUMAN	H	1358;970	ENSP00000297954:R1358H;ENSP00000297876:R970H	ENSP00000297954:R1358H	R	+	2	0	0	WNK2	95070982	95070982	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.454000	0.02381	-1.097000	0.03042	-2.087000	0.00375	CGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	0	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-11.491550	1	0.170000	NM_006648			5	5		31	30	0		1			0	0	12	0		9.377759e-01	0	0	0	0	0	0	5	31
WNK2	65268	broad.mit.edu	37	9	96051635	96051635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.S1182S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1570					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAG	0.701																																						ENST00000297954.4	1.000000	0.540000	1	7.600000e-01	0.990000	0.912211	0.990000	1.000000																										0				54						c.(4708-4710)tcG>tcA		WNK lysine deficient protein kinase 2							17.0	20.0	19.0					9																	96051635		2201	4297	6498	SO:0001819	synonymous_variant	65268	2	121240	27				g.chr9:96051635G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4710G>A	chr9.hg19:g.96051635G>A		0					WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR	p.S1570S	NM_001282394.1	NP_001269323.1	0	0	0	1.938587	Q9Y3S1	WNK2_HUMAN		20	4710	+			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	0	1	hg19	c.4710G>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.503|0.503	-0.869937|-0.869937	0.02570|0.02570	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.48370|0.48370	0.1496|0.1496	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66590|0.66590	-0.5885|-0.5885	4|4	.|.	.|.	.|.	.|.	10.4564|10.4564	0.44553|0.44553	0.1629:0.0:0.3035:0.5336|0.1629:0.0:0.3035:0.5336	.|.	.|.	.|.	.|.	R|Q	1137|1529;330;56	.|.	.|.	G|R	+|+	1|2	0|0	0|0	WNK2|WNK2	95091456|95091456	95091456|95091456	0.000000|0.000000	0.05858|0.05858	0.137000|0.137000	0.22149|0.22149	0.154000|0.154000	0.21943|0.21943	-4.704000|-4.704000	0.00196|0.00196	-3.903000|-3.903000	0.00093|0.00093	-1.618000|-1.618000	0.00794|0.00794	GGA|CGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.701	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	1		2	2	2	0		0	0	18		18	17	1	2.060000	-16.206660	1	0.170000	NM_006648			10	10		99	96	0		1	0		0	0	18	0		9.969124e-01	2.619892e-01	0	0	0	10	0	10	99
WNK2	65268	broad.mit.edu	37	9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2035					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672																																						ENST00000297954.4	1.000000	0.820000	1	9.900000e-01	0.990000	0.986698	0.990000	1.000000																										0				54						c.(6103-6105)Gca>Aca		WNK lysine deficient protein kinase 2							29.0	29.0	29.0					9																	96061420		2199	4293	6492	SO:0001583	missense	65268	0	0					g.chr9:96061420G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6103G>A	chr9.hg19:g.96061420G>A	ENSP00000297954:p.Ala2035Thr	0					WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000395475.2_3'UTR	p.A2035T	NM_001282394.1	NP_001269323.1	0	0	0	1.938587	Q9Y3S1	WNK2_HUMAN		25	6103	+			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	1	1	hg19	c.6103G>A		1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821450	0.32237	.	.	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T;T;T;T	0.71579	-0.58;-0.57;0.04;0.04	4.1	4.1	0.47936	4.1	4.1	0.47936	.	0.360403	0.29515	N	0.011924	T	0.79299	0.4422	L	0.53249	1.67	0.26252	N	0.978704	D;D;D;D	0.63880	0.991;0.993;0.988;0.993	P;D;D;D	0.77557	0.641;0.977;0.99;0.956	T	0.70684	-0.4804	10	0.54805	T	0.06	.	12.3721	0.55260	0.0:0.0:0.7483:0.2517	.	1998;1993;1998;2035	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2035;1998;1647;1610	ENSP00000297954:A2035T;ENSP00000378860:A1998T;ENSP00000297876:A1647T;ENSP00000411181:A1610T	ENSP00000297954:A2035T	A	+	1	0	0	WNK2	95101241	95101241	0.082000	0.21442	0.263000	0.24496	0.584000	0.36387	1.764000	0.38471	1.841000	0.53522	0.655000	0.94253	GCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_006648			20	20		155	153	1		1	0		0	0	35	0		9.999963e-01	4.188428e-01	0	0	0	12	0	20	155
FAM120A	23196	broad.mit.edu	37	9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	175						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463																																						ENST00000277165.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(523-525)aGa>aAa		family with sequence similarity 120A							191.0	156.0	168.0					9																	96233472		2203	4300	6503	SO:0001583	missense	23196	0	0					g.chr9:96233472G>A	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.524G>A	chr9.hg19:g.96233472G>A	ENSP00000277165:p.Arg175Lys	0					FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	p.R175K	NM_014612.3	NP_055427.2	0	0	0	1.938587	Q9NZB2	F120A_HUMAN		2	718	+			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	1	1	hg19	c.524G>A	CCDS6706.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982898|4.982898	0.93044|0.93044	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.3|5.3	5.3|5.3	0.74995|0.74995	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.50333|0.50333	1.59|1.59	0.44825|0.44825	D|D	0.997839|0.997839	.|B;D	.|0.56035	.|0.394;0.974	.|B;P	.|0.60541	.|0.187;0.876	T|T	0.63703|0.63703	-0.6577|-0.6577	5|10	.|0.72032	.|D	.|0.01	-14.9215|-14.9215	19.1566|19.1566	0.93514|0.93514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175;175	.|Q9NZB2;Q9NZB2-2	.|F120A_HUMAN;.	K|K	18|175	.|ENSP00000364538:R175K;ENSP00000277165:R175K;ENSP00000334918:R175K;ENSP00000344698:R175K	.|ENSP00000277165:R175K	E|R	+|+	1|2	0|0	0|0	FAM120A|FAM120A	95273293|95273293	95273293|95273293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.697000|7.697000	0.84279|0.84279	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAG|AGA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-2.932801	1	0.170000	NM_014612			66	65		285	282	1		1	1		0	0	90	0		1	1	0	13	0	221	0	66	285
PHF2	5253	broad.mit.edu	37	9	96392276	96392276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAGGAGGAGGCGCCCGACA	0.542																																						ENST00000359246.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(121-123)gaG>gaA		PHD finger protein 2							155.0	129.0	138.0					9																	96392276		2203	4300	6503	SO:0001819	synonymous_variant	5253	0	0					g.chr9:96392276G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.123G>A	chr9.hg19:g.96392276G>A		0					PHF2_ENST00000375376.4_Silent_p.E41E	p.E41E	NM_005392.3	NP_005383.3	0	0	0	1.938587	O75151	PHF2_HUMAN		2	490	+		Myeloproliferative disorder(762;0.0255)	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	1	1	hg19	c.123G>A	CCDS35069.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	1		2	2	2	0		0	0	98		98	96	1	2.060000	-20.000000	1	0.170000	NM_005392			72	70		415	412	0		1	1		0	0	98	0		1	9.967808e-01	0	6	0	46	0	72	415
PHF2	5253	broad.mit.edu	37	9	96425295	96425295	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96425295A>G	ENST00000359246.4	+	13	2172	c.1805A>G	c.(1804-1806)aAg>aGg	p.K602R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	602	Lys-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCAGAGGCCAAGTGGAAGTAC	0.502																																						ENST00000359246.4	0.590000	0.140000	4.600000e-01	2.200000e-01	0.320000	0.346144	0.320000	0.310000																										0				40						c.(1804-1806)aAg>aGg		PHD finger protein 2							130.0	109.0	116.0					9																	96425295		2203	4300	6503	SO:0001583	missense	5253	0	0					g.chr9:96425295A>G	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1805A>G	chr9.hg19:g.96425295A>G	ENSP00000352185:p.Lys602Arg	0					PHF2_ENST00000375376.4_Intron	p.K602R	NM_005392.3	NP_005383.3	0	0	0	1.938587	O75151	PHF2_HUMAN		13	2172	+		Myeloproliferative disorder(762;0.0255)	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	0	1	hg19	c.1805A>G	CCDS35069.1	0	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107668	0.37242	.	.	ENSG00000197724	ENST00000359246	T	0.20200	2.09	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.050265	0.85682	D	0.000000	T	0.15478	0.0373	L	0.42245	1.32	0.80722	D	1	B;P	0.38922	0.023;0.651	B;B	0.30401	0.015;0.115	T	0.07121	-1.0789	10	0.23302	T	0.38	-18.2991	13.0498	0.58948	1.0:0.0:0.0:0.0	.	20;602	Q8N359;O75151	.;PHF2_HUMAN	R	602	ENSP00000352185:K602R	ENSP00000352185:K602R	K	+	2	0	0	PHF2	95465116	95465116	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.247000	0.89830	1.670000	0.50864	0.248000	0.18094	AAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	0	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-3.613404	1	0.170000	NM_005392			7	7		249	240	0		1	0		0	0	69	0		9.784200e-01	8.168179e-01	0	0	0	113	0	7	249
PHF2	5253	broad.mit.edu	37	9	96429501	96429501	+	Missense_Mutation	SNP	C	C	T	rs148853252	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96429501C>T	ENST00000359246.4	+	17	2694	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	776					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAGGTTGGCGCGCTGGAGTAC	0.677													c|||	2	0.000399361	0.0015	0.0	5008	,	,		10646	0.0		0.0	False		,,,				2504	0.0					ENST00000359246.4	1.000000	0.900000	1	9.900000e-01	0.990000	0.994115	0.990000	1.000000																										0				40						c.(2326-2328)gCg>gTg		PHD finger protein 2		C	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	35.0	34.0	34.0		2327	3.0	0.2	9	dbSNP_134	34	0,8596		0,0,4298	no	missense	PHF2	NM_005392.3	64	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	776/1097	96429501	1,12995	2200	4298	6498	SO:0001583	missense	5253	2	121216	32				g.chr9:96429501C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2327C>T	chr9.hg19:g.96429501C>T	ENSP00000352185:p.Ala776Val	0					PHF2_ENST00000375376.4_Intron	p.A776V	NM_005392.3	NP_005383.3	0	0	0	1.938587	O75151	PHF2_HUMAN		17	2694	+		Myeloproliferative disorder(762;0.0255)	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	0	0	hg19	c.2327C>T	CCDS35069.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	14.70	2.613863	0.46631	2.27E-4	0.0	ENSG00000197724	ENST00000359246	T	0.18502	2.21	4.99	3.02	0.34903	4.99	3.02	0.34903	.	0.114508	0.64402	D	0.000016	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	D;P	0.62365	0.991;0.955	P;B	0.47044	0.535;0.284	T	0.14090	-1.0485	10	0.49607	T	0.09	-10.5163	13.6953	0.62575	0.0:0.3692:0.6308:0.0	.	195;776	Q8N359;O75151	.;PHF2_HUMAN	V	776	ENSP00000352185:A776V	ENSP00000352185:A776V	A	+	2	0	0	PHF2	95469322	95469322	1.000000	0.71417	0.201000	0.23476	0.338000	0.28826	5.413000	0.66399	1.050000	0.40346	0.298000	0.19748	GCG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	0		2	2	2	0		0	0	18		18	17	1	2.060000	-20.000000	1	0.170000	NM_005392			17	17		109	108	1		1	1		0	0	18	0		9.999754e-01	9.970829e-01	0	15	0	50	0	17	109
PHF2	5253	broad.mit.edu	37	9	96435918	96435918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAATGCTGTCCATGGCCAACC	0.667																																						ENST00000359246.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				40						c.(2398-2400)tcC>tcT		PHD finger protein 2							31.0	34.0	33.0					9																	96435918		2203	4300	6503	SO:0001819	synonymous_variant	5253	6	121396	37				g.chr9:96435918C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2400C>T	chr9.hg19:g.96435918C>T		0					PHF2_ENST00000375376.4_Intron	p.S800S	NM_005392.3	NP_005383.3	0	0	0	1.938587	O75151	PHF2_HUMAN		18	2767	+		Myeloproliferative disorder(762;0.0255)	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	1	1	hg19	c.2400C>T	CCDS35069.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	1		2	2	2	0		0	0	54		54	54	1	2.060000	-3.240533	1	0.170000	NM_005392			42	42		225	220	1		1	1		0	0	54	0		1	9.997276e-01	0	10	0	59	0	42	225
PTPDC1	138639	broad.mit.edu	37	9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000375360.3	+	7	1234	c.894C>A	c.(892-894)gaC>gaA	p.D298E	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463																																						ENST00000375360.3	0.760000	0.340000	6.500000e-01	4.300000e-01	0.530000	0.546319	0.530000	0.530000																										0				32						c.(892-894)gaC>gaA		protein tyrosine phosphatase domain containing 1							87.0	85.0	86.0					9																	96859904		2203	4300	6503	SO:0001583	missense	138639	0	0					g.chr9:96859904C>A	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.894C>A	chr9.hg19:g.96859904C>A	ENSP00000364509:p.Asp298Glu	0					PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	p.D298E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	0	0	0	1.938587	A2A3K4	PTPC1_HUMAN		7	1234	+			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	1	1	hg19	c.894C>A	CCDS6707.1	0	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939996	0.52972	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12672	2.66;2.66	5.64	2.78	0.32641	5.64	2.78	0.32641	.	0.041854	0.85682	D	0.000000	T	0.20088	0.0483	M	0.69823	2.125	0.42409	D	0.992596	P;P;B;P	0.41929	0.765;0.532;0.264;0.584	P;B;B;B	0.44359	0.447;0.348;0.132;0.351	T	0.04413	-1.0953	10	0.62326	D	0.03	-24.5012	10.5814	0.45257	0.0:0.7951:0.0:0.2049	.	352;350;352;298	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	E	298;350	ENSP00000364509:D298E;ENSP00000288976:D350E	ENSP00000288976:D350E	D	+	3	2	2	PTPDC1	95899725	95899725	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	0.749000	0.26320	1.384000	0.46424	0.655000	0.94253	GAC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	1	0	1		2	2	2	0		0	0	90		90	89	1	2.060000	-19.997170	1	0.170000	NM_177995, NM_152422			22	22		451	446	0		1	0		0	0	90	0		9.999987e-01	2.707209e-01	0	0	0	21	0	22	451
PTPDC1	138639	broad.mit.edu	37	9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A	rs199863157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000375360.3	+	7	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	402					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527																																						ENST00000375360.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999816	0.990000	1.000000																										0				32						c.(1204-1206)Gag>Aag		protein tyrosine phosphatase domain containing 1							52.0	54.0	53.0					9																	96860214		2203	4300	6503	SO:0001583	missense	138639	2	121412	32				g.chr9:96860214G>A	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.1204G>A	chr9.hg19:g.96860214G>A	ENSP00000364509:p.Glu402Lys	0					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	p.E402K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	0	0	0	1.938587	A2A3K4	PTPC1_HUMAN		7	1544	+			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	1	1	hg19	c.1204G>A	CCDS6707.1	1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333160	0.24167	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12984	2.64;2.63	5.52	3.64	0.41730	5.52	3.64	0.41730	.	0.187387	0.56097	N	0.000026	T	0.11324	0.0276	L	0.47716	1.5	0.18873	N	0.999986	B;B;B;B	0.19445	0.021;0.036;0.021;0.021	B;B;B;B	0.13407	0.004;0.009;0.004;0.004	T	0.32955	-0.9887	10	0.15066	T	0.55	-12.7677	9.6524	0.39906	0.0779:0.1424:0.7797:0.0	.	456;454;456;402	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	402;454	ENSP00000364509:E402K;ENSP00000288976:E454K	ENSP00000288976:E454K	E	+	1	0	0	PTPDC1	95900035	95900035	0.998000	0.40836	0.014000	0.15608	0.642000	0.38348	3.373000	0.52394	0.660000	0.30964	0.655000	0.94253	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	1	0	1		2	2	2	0		0	0	59		59	59	1	2.060000	-3.145436	1	0.170000	NM_177995, NM_152422			38	37		233	225	1		1	1		0	0	59	0		1	8.654421e-01	0	3	0	21	0	38	233
PTPDC1	138639	broad.mit.edu	37	9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000375360.3	+	7	1899	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	520					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCTGCTCACCAGCAAGTGTCT	0.552																																						ENST00000375360.3	0.510000	0.180000	4.200000e-01	2.400000e-01	0.320000	0.336045	0.320000	0.310000																										0				32						c.(1558-1560)cAg>cGg		protein tyrosine phosphatase domain containing 1							86.0	91.0	89.0					9																	96860569		2203	4300	6503	SO:0001583	missense	138639	0	0					g.chr9:96860569A>G	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.1559A>G	chr9.hg19:g.96860569A>G	ENSP00000364509:p.Gln520Arg	0					PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	p.Q520R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	0	0	0	1.938587	A2A3K4	PTPC1_HUMAN		7	1899	+			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	1	1	hg19	c.1559A>G	CCDS6707.1	0	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333069	0.11013	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.46451	0.87;0.87	6.06	3.62	0.41486	6.06	3.62	0.41486	.	0.653390	0.16932	N	0.193629	T	0.27866	0.0686	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.30966	-0.9960	10	0.10111	T	0.7	-4.0139	2.7677	0.05325	0.6194:0.155:0.0776:0.148	.	574;572;574;520	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	R	520;572	ENSP00000364509:Q520R;ENSP00000288976:Q572R	ENSP00000288976:Q572R	Q	+	2	0	0	PTPDC1	95900390	95900390	0.550000	0.26489	0.079000	0.20413	0.606000	0.37113	2.715000	0.47210	0.474000	0.27392	0.533000	0.62120	CAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	0	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-12.742750	1	0.170000	NM_177995, NM_152422			14	14		488	476	0		1	0		0	0	116	0		9.997155e-01	1.928361e-01	0	1	0	26	0	14	488
HIATL1	84641	broad.mit.edu	37	9	97220650	97220650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000375344.3	+	11	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	391					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(1171-1173)ggC>ggT		hippocampus abundant transcript-like 1							135.0	130.0	131.0					9																	97220650		2203	4300	6503	SO:0001819	synonymous_variant	84641	0	0					g.chr9:97220650C>T	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1173C>T	chr9.hg19:g.97220650C>T		0					HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	p.G391G	NM_032558.2	NP_115947.2	0	0	0	1.938587	Q5SR56	HIAL1_HUMAN		11	1442	+		Acute lymphoblastic leukemia(62;0.136)	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	1	1	hg19	c.1173C>T	CCDS6710.2	1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718586	0.30503	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50001	0.76	5.0	4.07	0.47477	5.0	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.26123	N	0.980522	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	8	0.87932	D	0	-8.4171	5.6709	0.17721	0.0:0.6882:0.1983:0.1135	.	294	B4DUE6	.	S	96;294	ENSP00000405909:P294S	ENSP00000277183:P96S	P	+	1	0	0	HIATL1	96260471	96260471	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.664000	0.25068	1.395000	0.46643	0.655000	0.94253	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	0	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-20.000000	1	0.170000	NM_032558			71	71		381	369	1		1	1		0	0	120	0		1	1	0	19	0	156	0	71	381
FBP2	8789	broad.mit.edu	37	9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	309					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)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572																																						ENST00000375337.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(925-927)gaG>gaT		fructose-1,6-bisphosphatase 2							106.0	92.0	97.0					9																	97321313		2203	4300	6503	SO:0001583	missense	8789	0	0					g.chr9:97321313C>A	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.927G>T	chr9.hg19:g.97321313C>A	ENSP00000364486:p.Glu309Asp	0					PCAT7_ENST00000452148.2_RNA	p.E309D	NM_003837.2	NP_003828.2	0	0	0	1.938587	O00757	F16P2_HUMAN		7	993	-		Acute lymphoblastic leukemia(62;0.136)	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	1	1	hg19	c.927G>T	CCDS6711.1	1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722736	0.30503	.	.	ENSG00000130957	ENST00000375337	T	0.72051	-0.62	5.54	1.44	0.22558	5.54	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.46947	1.48	0.42638	D	0.993408	B	0.02656	0.0	B	0.06405	0.002	T	0.55198	-0.8178	10	0.38643	T	0.18	0.0724	10.6656	0.45728	0.0:0.651:0.0:0.349	.	309	O00757	F16P2_HUMAN	D	309	ENSP00000364486:E309D	ENSP00000364486:E309D	E	-	3	2	2	FBP2	96361134	96361134	0.005000	0.15991	0.147000	0.22382	0.744000	0.42396	0.135000	0.15952	0.457000	0.26962	0.655000	0.94253	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	1	0	1		2	2	2	0		0	0	81		81	81	1	2.060000	-20.000000	1	0.170000	NM_003837			70	68		337	326	1		1	1		0	0	81	0		1	1.425099e-01	0	2	0	2	0	70	337
C9orf3	84909	broad.mit.edu	37	9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000375315.2	+	4	1213	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	405					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582																																						ENST00000375315.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999992	0.990000	1.000000																										0				23						c.(1213-1215)Cct>Act		chromosome 9 open reading frame 3							95.0	83.0	87.0					9																	97563133		2203	4300	6503	SO:0001583	missense	84909	0	0					g.chr9:97563133C>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1213C>A	chr9.hg19:g.97563133C>A	ENSP00000364464:p.Pro405Thr	0					C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T|C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T	p.P405T	NM_001193329.1	NP_001180258.1	0	0	0	1.938587	Q8N6M6	AMPO_HUMAN		4	1213	+			Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	1	1	hg19	c.1213C>A	CCDS55328.1	1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062172	0.55432	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.04970	4.31;3.52;3.52;3.52;3.52;4.31	5.28	5.28	0.74379	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76575	0.948;0.967;0.988;0.956	T	0.00070	-1.2134	10	0.37606	T	0.19	-11.1188	12.4307	0.55573	0.0:0.924:0.0:0.076	.	405;405;405;405	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	405;405;405;228;187;25	ENSP00000277198:P405T;ENSP00000297979:P405T;ENSP00000364464:P405T;ENSP00000402171:P228T;ENSP00000401854:P187T;ENSP00000378763:P25T	ENSP00000277198:P405T	P	+	1	0	0	C9orf3	96602954	96602954	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.533000	0.53561	2.747000	0.94245	0.650000	0.86243	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	76		76	74	1	2.060000	-2.774983	1	0.170000	NM_032823			62	60		381	376	1		1	1		0	0	76	0		1	9.873640e-01	0	16	0	28	0	62	381
FANCC	2176	broad.mit.edu	37	9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000375305.1_Missense_Mutation_p.P346L|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	346					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3	1.000000	0.910000	1	9.900000e-01	0.990000	0.994903	0.990000	1.000000			yes	Rec		Fanconi anaemia C	yes	Rec		Fanconi anaemia C	9	9q22.3	9q22.3	2176	D, Mis, N, F, S	"""Fanconi anemia, complementation group C"""				L	L		AML, leukemia			0				3						c.(1036-1038)cCa>cTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							100.0	90.0	93.0					9																	97879632		2203	4300	6503	SO:0001583	missense	2176	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr9:97879632G>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1037C>T	chr9.hg19:g.97879632G>A	ENSP00000289081:p.Pro346Leu	0					FANCC_ENST00000375305.1_Missense_Mutation_p.P346L|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000464653.1_5'UTR	p.P346L	NM_000136.2	NP_000127.2	0	0	0	1.938587	Q00597	FANCC_HUMAN		11	1291	-		Acute lymphoblastic leukemia(62;0.138)	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	1	1	hg19	c.1037C>T	CCDS35071.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864764	0.51482	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.330468	0.33980	N	0.004380	T	0.53997	0.1831	M	0.67953	2.075	0.21416	N	0.999698	D	0.56521	0.976	P	0.46419	0.516	T	0.59257	-0.7488	10	0.59425	D	0.04	-7.3384	9.5099	0.39071	0.0:0.1275:0.6774:0.1952	.	346	Q00597	FANCC_HUMAN	L	346	ENSP00000289081:P346L;ENSP00000364454:P346L	ENSP00000289081:P346L	P	-	2	0	0	FANCC	96919453	96919453	0.882000	0.30256	0.325000	0.25375	0.484000	0.33280	2.583000	0.46094	2.941000	0.99782	0.655000	0.94253	CCA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	1	0	1		2	2	2	0		0	0	34		34	34	1	2.060000	-3.151657	1	0.170000	NM_000136			19	19		125	121	1		1	0		0	0	34	0		9.999922e-01	7.373579e-01	0	0	0	19	0	19	125
PTCH1	5727	broad.mit.edu	37	9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000331920.6	-	23	4437	c.4138G>A	c.(4138-4140)Gcc>Acc	p.A1380T	PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000430669.2_Missense_Mutation_p.A1314T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1380					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)			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)				GGGTGCACGGCGACAGTCACG	0.687																																						ENST00000331920.6	0.610000	0.250000	5.100000e-01	3.200000e-01	0.400000	0.421525	0.400000	0.400000																										0				490						c.(4138-4140)Gcc>Acc		patched 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	26.0	31.0	29.0		4138,3940,4135,3685,3685,3685,3685	5.1	0.1	9	dbSNP_132	29	1,8591		0,1,4295	no	missense,missense,missense,missense,missense,missense,missense	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	58,58,58,58,58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1380/1448,1314/1382,1379/1447,1229/1297,1229/1297,1229/1297,1229/1297	98209400	1,12993	2201	4296	6497	SO:0001583	missense	5727	2	121240	39				g.chr9:98209400C>T	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.4138G>A	chr9.hg19:g.98209400C>T	ENSP00000332353:p.Ala1380Thr	0					PTCH1_ENST00000430669.2_Missense_Mutation_p.A1314T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T	p.A1380T	NM_000264.3	NP_000255.2	0	0	0	1.938587	Q13635	PTC1_HUMAN		23	4437	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	1	1	hg19	c.4138G>A	CCDS6714.1	0	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744437	0.69418	0.0	1.16E-4	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93426	-3.21;-3.17;-3.18;-3.18;-3.17;-3.18;-3.22	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.052411	0.85682	D	0.000000	D	0.93697	0.7986	L	0.55481	1.735	0.80722	D	1	P;D;D	0.60160	0.943;0.987;0.978	B;P;B	0.49637	0.399;0.617;0.413	D	0.94295	0.7532	10	0.72032	D	0.01	-22.9428	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1314;1379;1380	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	1380;1314;1229;1229;1314;172;1229;1379	ENSP00000332353:A1380T;ENSP00000389744:A1314T;ENSP00000399981:A1229T;ENSP00000396135:A1229T;ENSP00000410287:A1314T;ENSP00000414823:A1229T;ENSP00000364423:A1379T	ENSP00000332353:A1380T	A	-	1	0	0	PTCH1	97249221	97249221	1.000000	0.71417	0.075000	0.20258	0.104000	0.19210	7.608000	0.82898	2.659000	0.90383	0.655000	0.94253	GCC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	0	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-16.489720	1	0.170000	NM_000264			18	17		489	476	0		1	0		0	0	56	0		9.999771e-01	4.481938e-01	0	0	0	41	0	18	489
PTCH1	5727	broad.mit.edu	37	9	98211451	98211451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98211451C>T	ENST00000331920.6	-	22	4003	c.3704G>A	c.(3703-3705)aGc>aAc	p.S1235N	PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000430669.2_Missense_Mutation_p.S1169N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1235					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)			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)				AAGCTCCTCGCTGAGGCCTGA	0.657																																						ENST00000331920.6	0.920000	0.150000	6.800000e-01	2.700000e-01	0.440000	0.480663	0.440000	0.400000																										0				490						c.(3703-3705)aGc>aAc		patched 1							25.0	26.0	25.0					9																	98211451		2203	4300	6503	SO:0001583	missense	5727	0	0					g.chr9:98211451C>T	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.3704G>A	chr9.hg19:g.98211451C>T	ENSP00000332353:p.Ser1235Asn	0					PTCH1_ENST00000430669.2_Missense_Mutation_p.S1169N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N	p.S1235N	NM_000264.3	NP_000255.2	0	0	0	1.938587	Q13635	PTC1_HUMAN		22	4003	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	0	1	hg19	c.3704G>A	CCDS6714.1	0	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434805	0.83885	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90676	-2.71;-2.7;-2.68;-2.68;-2.7;-2.68;-2.71	5.95	5.05	0.67936	5.95	5.05	0.67936	.	0.079218	0.85682	D	0.000000	D	0.91209	0.7230	L	0.60455	1.87	0.58432	D	0.999998	P;D;D	0.56746	0.899;0.977;0.961	P;P;B	0.49829	0.528;0.623;0.419	D	0.90167	0.4232	10	0.34782	T	0.22	-27.1213	16.7747	0.85548	0.1298:0.8702:0.0:0.0	.	1169;1234;1235	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1235;1169;1084;1084;1169;27;1084;1234	ENSP00000332353:S1235N;ENSP00000389744:S1169N;ENSP00000399981:S1084N;ENSP00000396135:S1084N;ENSP00000410287:S1169N;ENSP00000414823:S1084N;ENSP00000364423:S1234N	ENSP00000332353:S1235N	S	-	2	0	0	PTCH1	97251272	97251272	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.897000	0.69831	1.517000	0.48917	0.655000	0.94253	AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-7.557180	1	0.170000	NM_000264			4	4		106	105	0		1	0		0	0	20	0		8.895698e-01	3.765305e-01	0	1	0	29	0	4	106
PTCH1	5727	broad.mit.edu	37	9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000331920.6	-	21	3844	c.3545C>A	c.(3544-3546)cCt>cAt	p.P1182H	PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1116H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1182					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)			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)				ACTGACCTCAGGATATGGTCC	0.537																																						ENST00000331920.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				490						c.(3544-3546)cCt>cAt		patched 1							98.0	85.0	89.0					9																	98212127		2203	4300	6503	SO:0001583	missense	5727	0	0					g.chr9:98212127G>T	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.3545C>A	chr9.hg19:g.98212127G>T	ENSP00000332353:p.Pro1182His	0					PTCH1_ENST00000430669.2_Missense_Mutation_p.P1116H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H	p.P1182H	NM_000264.3	NP_000255.2	0	0	0	1.938587	Q13635	PTC1_HUMAN		21	3844	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	1	1	hg19	c.3545C>A	CCDS6714.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257690	0.80246	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90900	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.75	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.60455	1.87	0.80722	D	1	P;D;B	0.89917	0.767;1.0;0.409	P;D;B	0.74348	0.561;0.983;0.082	D	0.94148	0.7403	10	0.54805	T	0.06	-15.707	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1116;1181;1182	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1182;1116;1031;1031;1116;1031;1181	ENSP00000332353:P1182H;ENSP00000389744:P1116H;ENSP00000399981:P1031H;ENSP00000396135:P1031H;ENSP00000410287:P1116H;ENSP00000414823:P1031H;ENSP00000364423:P1181H	ENSP00000332353:P1182H	P	-	2	0	0	PTCH1	97251948	97251948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.606000	0.88127	0.561000	0.74099	CCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-3.674628	1	0.170000	NM_000264			36	35		142	139	0		1	0		0	0	44	0		1	9.635831e-01	0	1	0	23	0	36	142
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000331920.6	-	11	1819	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441D	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	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)			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)				AACACCAAGAGCGAGAAATGG	0.428																																						ENST00000331920.6	1.000000	0.970000	1	9.900000e-01	0.990000	0.997336	0.990000	1.000000																										0				490						c.(1519-1521)gCt>gAt		patched 1							143.0	111.0	121.0					9																	98239123		2203	4300	6503	SO:0001583	missense	5727	0	0					g.chr9:98239123G>T	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.1520C>A	chr9.hg19:g.98239123G>T	ENSP00000332353:p.Ala507Asp	0					PTCH1_ENST00000430669.2_Missense_Mutation_p.A441D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D	p.A507D	NM_000264.3	NP_000255.2	0	0	0	1.938587	Q13635	PTC1_HUMAN		11	1819	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	1	1	hg19	c.1520C>A	CCDS6714.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122708	0.77436	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	4.64	0.57946	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.998	D	0.98834	1.0752	10	0.87932	D	0	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	507;441;356;356;441;356;506;172	ENSP00000332353:A507D;ENSP00000389744:A441D;ENSP00000399981:A356D;ENSP00000396135:A356D;ENSP00000410287:A441D;ENSP00000414823:A356D;ENSP00000364423:A506D;ENSP00000364420:A172D	ENSP00000332353:A507D	A	-	2	0	0	PTCH1	97278944	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_000264			20	19		122	121	1		1	1		0	0	32	0		9.999967e-01	9.115913e-01	0	4	0	24	0	20	122
HSD17B3	3293	broad.mit.edu	37	9	98997811	98997811	+	Silent	SNP	G	G	A	rs552614077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_ENST00000464104.1_5'UTR|AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000375262.2_Silent_p.S238S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	288					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				GGAAGGCACCGCTGTAGAAGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17973	0.0		0.0	False		,,,				2504	0.0					ENST00000375263.3	1.000000	0.940000	1	9.900000e-01	0.990000	0.996517	0.990000	1.000000																										0				13						c.(862-864)agC>agT		hydroxysteroid (17-beta) dehydrogenase 3							93.0	74.0	80.0					9																	98997811		2203	4300	6503	SO:0001819	synonymous_variant	3293	5	121412	35				g.chr9:98997811G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.864C>T	chr9.hg19:g.98997811G>A		0					AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.S238S	p.S288S	NM_000197.1	NP_000188.1	0	0	0	1.938587	P37058	DHB3_HUMAN		11	911	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	Q5U0Q6	Silent	SNP	ENST00000375263.3	1	1	hg19	c.864C>T	CCDS6716.1	1																																																																																								1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-11.674510	1	0.170000	NM_000197			20	20		127	124	1		1	0		0	0	33	0		9.999964e-01	0	0	0	0	1	0	20	127
HABP4	22927	broad.mit.edu	37	9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											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)				GAAGAGGGGAGCAGCAAGGAT	0.527																																						ENST00000375249.4	0.460000	0.170000	3.800000e-01	2.300000e-01	0.290000	0.310778	0.290000	0.300000																										0				13						c.(376-378)gaG>gaT		hyaluronan binding protein 4							99.0	102.0	101.0					9																	99220689		2203	4300	6503	SO:0001583	missense	22927	0	0					g.chr9:99220689G>T	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.378G>T	chr9.hg19:g.99220689G>T	ENSP00000364398:p.Glu126Asp	0					HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	p.E126D	NM_014282.2	NP_055097.2	0	0	0	1.938587				2	453	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)		Missense_Mutation	SNP	ENST00000375249.4	1	1	hg19	c.378G>T	CCDS6719.1	0	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380545	0.42207	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.35973	1.28;1.47	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.428708	0.25329	N	0.031444	T	0.39009	0.1062	L	0.31476	0.935	0.35363	D	0.78836	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.978	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.568	5.418	0.16384	0.2457:0.0:0.7543:0.0	.	126;126	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	D	126	ENSP00000364400:E126D;ENSP00000364398:E126D	ENSP00000364398:E126D	E	+	3	2	2	HABP4	98260510	98260510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.657000	0.37366	2.375000	0.81037	0.563000	0.77884	GAG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	0	0	1		2	2	2	0		0	0	122		122	122	1	2.060000	-3.313798	1	0.170000	NM_014282			16	16		601	590	0		1	0		0	0	122	0		9.999231e-01	1.808813e-01	0	1	0	27	0	16	601
CDC14B	8555	broad.mit.edu	37	9	99266070	99266070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000375242.3_Splice_Site_p.L451F|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375240.3_Splice_Site_p.L449F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398																																						ENST00000375241.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1462-1464)Ctc>Ttc		cell division cycle 14B							75.0	73.0	74.0					9																	99266070		2203	4300	6503	SO:0001630	splice_region_variant	8555	0	0					g.chr9:99266070G>A	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.1461-1C>T	chr9.hg19:g.99266070G>A		0					CDC14B_ENST00000375242.3_Splice_Site_p.L451F|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375240.3_Splice_Site_p.L449F	p.L488F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	0	0	0	1.938587	O60729	CC14B_HUMAN		14	1913	-		Acute lymphoblastic leukemia(62;0.0559)	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	1	0	hg19	c.1462C>T	CCDS6722.1	1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089961	0.08632	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.91996	-2.94;-2.95;-2.93	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.552057	0.17597	N	0.168548	D	0.85733	0.5765	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28998	0.23;0.044;0.008	B;B;B	0.31390	0.129;0.023;0.002	T	0.81185	-0.1048	10	0.10111	T	0.7	0.3137	15.3465	0.74343	0.0:0.0:1.0:0.0	.	449;488;451	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	488;449;451	ENSP00000364389:L488F;ENSP00000364388:L449F;ENSP00000364390:L451F	ENSP00000364388:L449F	L	-	1	0	0	CDC14B	98305891	98305891	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	CTC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	1	0	1		2	2	2	0		0	0	56		56	55	1	2.060000	-20.000000	1	0.170000	NM_033331	Missense_Mutation		69	67		284	279	1		1	1		0	0	56	0		1	9.602167e-01	0	4	0	20	0	69	284
ZNF510	22869	broad.mit.edu	37	9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383																																						ENST00000375231.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1933-1935)atA>atG		zinc finger protein 510							102.0	110.0	107.0					9																	99521177		2202	4300	6502	SO:0001583	missense	22869	0	0					g.chr9:99521177T>C	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.1935A>G	chr9.hg19:g.99521177T>C	ENSP00000364379:p.Ile645Met	0					ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M	p.I645M			0	0	0	1.938587	Q9Y2H8	ZN510_HUMAN		6	2585	-		Acute lymphoblastic leukemia(62;0.0527)	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	1	1	hg19	c.1935A>G	CCDS35074.1	1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970517	0.34754	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.18016	2.24;2.24	3.02	3.02	0.34903	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.35249	1.045	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.10660	-1.0620	9	0.45353	T	0.12	.	5.6042	0.17371	0.2439:0.0:0.0:0.7561	.	645	Q9Y2H8	ZN510_HUMAN	M	645	ENSP00000364379:I645M;ENSP00000223428:I645M	ENSP00000223428:I645M	I	-	3	3	3	ZNF510	98560998	98560998	0.000000	0.05858	0.895000	0.35142	0.902000	0.53008	-1.884000	0.01622	1.613000	0.50231	0.533000	0.62120	ATA	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	1	0	1		17	2	2	0		0	1	146		146	145	1	2.060000	-20.000000	1	0.170000	NM_014930			125	121		585	576	1		1	1		0	0	146	0		1	9.893369e-01	0	7	0	28	0	125	585
ZNF782	158431	broad.mit.edu	37	9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				CTGGGTGGGCTTTCTGATGTT	0.388																																						ENST00000481138.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(2080-2082)aaA>aaC		zinc finger protein 782							75.0	78.0	77.0					9																	99580223		2203	4300	6503	SO:0001583	missense	158431	0	0					g.chr9:99580223T>G	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.2082A>C	chr9.hg19:g.99580223T>G	ENSP00000419397:p.Lys694Asn	0					ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N|ZNF782_ENST00000466833.1_5'Flank	p.K694N	NM_001001662.1	NP_001001662.1	0	0	0	1.938587	Q6ZMW2	ZN782_HUMAN		6	2743	-		Acute lymphoblastic leukemia(62;0.0527)	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	1	1	hg19	c.2082A>C	CCDS35075.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.27|14.27	2.484678|2.484678	0.44147|0.44147	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.16457|.	2.34;2.34|.	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42086|0.42086	0.1187|0.1187	M|M	0.63169|0.63169	1.94|1.94	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|5	0.87932|.	D|.	0|.	.|.	6.0568|6.0568	0.19816|0.19816	0.0:0.3139:0.0:0.6861|0.0:0.3139:0.0:0.6861	.|.	694|.	Q6ZMW2|.	ZN782_HUMAN|.	N|R	694;562|683	ENSP00000419397:K694N;ENSP00000440624:K562N|.	ENSP00000419397:K694N|.	K|S	-|-	3|1	2|0	2|0	ZNF782|ZNF782	98620044|98620044	98620044|98620044	0.000000|0.000000	0.05858|0.05858	0.464000|0.464000	0.27143|0.27143	0.890000|0.890000	0.51754|0.51754	-0.677000|-0.677000	0.05215|0.05215	-0.037000|-0.037000	0.13646|0.13646	0.533000|0.533000	0.62120|0.62120	AAA|AGC	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1		2	2	2	0		0	0	69		69	68	1	2.060000	-20.000000	1	0.170000	NM_001001662			103	101		331	323	1		1	0		0	0	69	0		1	1.441990e-01	0	1	0	2	0	103	331
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				TGATTCTACAGAAACAATTTC	0.358																																						ENST00000481138.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(838-840)ttC>ttA		zinc finger protein 782							85.0	89.0	88.0					9																	99581465		2203	4299	6502	SO:0001583	missense	158431	0	0					g.chr9:99581465G>T	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.840C>A	chr9.hg19:g.99581465G>T	ENSP00000419397:p.Phe280Leu	0					ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L|ZNF782_ENST00000466833.1_5'Flank	p.F280L	NM_001001662.1	NP_001001662.1	0	0	0	1.938587	Q6ZMW2	ZN782_HUMAN		6	1501	-		Acute lymphoblastic leukemia(62;0.0527)	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	1	1	hg19	c.840C>A	CCDS35075.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062972|3.062972	0.55432|0.55432	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.05081|.	3.56;3.5|.	3.8|3.8	2.91|2.91	0.33838|0.33838	3.8|3.8	2.91|2.91	0.33838|0.33838	Zinc finger, C2H2 (1);|.	0.491488|.	0.15252|.	N|.	0.272278|.	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.48174|0.48174	1.505|1.505	0.20563|0.20563	N|N	0.999882|0.999882	B|.	0.25904|.	0.137|.	B|.	0.27715|.	0.082|.	T|T	0.24941|0.24941	-1.0146|-1.0146	10|5	0.59425|.	D|.	0.04|.	.|.	9.737|9.737	0.40395|0.40395	0.1042:0.0:0.8958:0.0|0.1042:0.0:0.8958:0.0	.|.	280|.	Q6ZMW2|.	ZN782_HUMAN|.	L|M	280;148|269	ENSP00000419397:F280L;ENSP00000440624:F148L|.	ENSP00000419397:F280L|.	F|L	-|-	3|1	2|2	2|2	ZNF782|ZNF782	98621286|98621286	98621286|98621286	0.867000|0.867000	0.29959|0.29959	0.093000|0.093000	0.20910|0.20910	0.015000|0.015000	0.08874|0.08874	0.649000|0.649000	0.24843|0.24843	1.202000|1.202000	0.43218|0.43218	0.650000|0.650000	0.86243|0.86243	TTC|CTG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1		2	2	2	0		0	0	75		75	75	1	2.060000	-20.000000	1	0.170000	NM_001001662			72	70		348	342	1		1	0		0	0	75	0		1	4.142244e-01	0	1	0	7	0	72	348
ZNF782	158431	broad.mit.edu	37	9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				TTAGTTCTGCCATCCTTAATA	0.413																																						ENST00000481138.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				33						c.(532-534)Ggc>Agc		zinc finger protein 782							78.0	78.0	78.0					9																	99581773		2203	4300	6503	SO:0001583	missense	158431	0	0					g.chr9:99581773C>T	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.532G>A	chr9.hg19:g.99581773C>T	ENSP00000419397:p.Gly178Ser	0					ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	p.G178S	NM_001001662.1	NP_001001662.1	0	0	0	1.938587	Q6ZMW2	ZN782_HUMAN		6	1193	-		Acute lymphoblastic leukemia(62;0.0527)	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	1	1	hg19	c.532G>A	CCDS35075.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400587|1.400587	0.25291|0.25291	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.05580|.	3.58;3.42;5.92|.	3.38|3.38	-2.69|-2.69	0.06022|0.06022	3.38|3.38	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	T|.	0.17066|.	0.0410|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.23904|.	-1.0175|.	9|.	0.66056|.	D|.	0.02|.	.|.	1.2202|1.2202	0.01922|0.01922	0.1871:0.3649:0.2541:0.1939|0.1871:0.3649:0.2541:0.1939	.|.	178|.	Q6ZMW2|.	ZN782_HUMAN|.	S|X	178;46;178|166	ENSP00000419397:G178S;ENSP00000440624:G46S;ENSP00000417577:G178S|.	ENSP00000417577:G178S|.	G|W	-|-	1|2	0|0	0|0	ZNF782|ZNF782	98621594|98621594	98621594|98621594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.104000|0.104000	0.19210|0.19210	-1.035000|-1.035000	0.03564|0.03564	-0.587000|-0.587000	0.05890|0.05890	0.650000|0.650000	0.86243|0.86243	GGC|TGG	1.452991e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-3.080055	1	0.170000	NM_001001662			52	52		294	289	1		1	0		0	0	64	0		1	2.901809e-01	0	1	0	6	0	52	294
CACNA1B	774	broad.mit.edu	37	9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000371372.1	+	47	6959	c.6814G>A	c.(6814-6816)Gcc>Acc	p.A2272T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2272					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)			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)	CTCTGTCCACGCCCTGCCTGA	0.647																																						ENST00000371372.1			0	0																														0				80						c.(6814-6816)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						42.0	46.0	45.0					9																	141016245		2070	4191	6261	SO:0001583	missense	774	1	121026	37				g.chr9:141016245G>A	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.6814G>A	chr9.hg19:g.141016245G>A	ENSP00000360423:p.Ala2272Thr						CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T	p.A2272T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1					Q00975	CAC1B_HUMAN		47	6959	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	1	1	hg19	c.6814G>A	CCDS59522.1		.	.	.	.	.	.	.	.	.	.	G	10.30	1.311920	0.23821	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-3.96;-4.18;-3.95;-3.94;-3.94	5.11	-6.17	0.02091	5.11	-6.17	0.02091	.	0.987100	0.08256	N	0.973720	D	0.90896	0.7139	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.79313	-0.1855	10	0.12766	T	0.61	.	9.4673	0.38820	0.1512:0.2673:0.5814:0.0	.	2271;2270	B1AQK7;B1AQK6	.;.	T	2272;1466;2270;2271;2273	ENSP00000360423:A2272T;ENSP00000277549:A1466T;ENSP00000360414:A2270T;ENSP00000360408:A2271T;ENSP00000360406:A2273T	ENSP00000277549:A1466T	A	+	1	0	0	CACNA1B	140136066	140136066	0.000000	0.05858	0.003000	0.11579	0.919000	0.55068	-0.452000	0.06787	-1.095000	0.03050	-0.378000	0.06908	GCC			TCGA-IB-7651-01A-11D-2154-08	0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	0	1		2	2	2	0		0	0	66		66	64	1	2.060000	-3.314565	1	0.170000	NM_000718			13	13		344	338	0		1	0		0	0	66	0		9.995029e-01	0	0	0	0	1	0	13	344
NOX1	27035	broad.mit.edu	37	X	100104325	100104325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	463	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCACTTTGCCTAATTCCTCC	0.448																																						ENST00000372966.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(1387-1389)Ggc>Tgc		NADPH oxidase 1							112.0	74.0	87.0					X																	100104325		2203	4300	6503	SO:0001583	missense	27035	0	0					g.chrX:100104325C>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1387G>T	chrX.hg19:g.100104325C>A	ENSP00000362057:p.Gly463Cys						NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C	p.G463C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	0	1	1		Q9Y5S8	NOX1_HUMAN		11	1592	-			A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	1	1	hg19	c.1387G>T	CCDS14474.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.474228|3.474228	0.63737|0.63737	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.96232|.	-3.87;-3.95|.	4.05|4.05	4.05|4.05	0.47172|0.47172	4.05|4.05	4.05|4.05	0.47172|0.47172	Ferric reductase, NAD binding (1);|.	0.252743|.	0.38492|.	N|.	0.001673|.	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.80103|0.80103	-0.1522|-0.1522	10|5	0.38643|.	T|.	0.18|.	-8.1455|-8.1455	14.5632|14.5632	0.68156|0.68156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;463|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	C|M	463;426;152|147	ENSP00000362057:G463C;ENSP00000362051:G426C|.	ENSP00000362048:G152C|.	G|R	-|-	1|2	0|0	0|0	NOX1|NOX1	99990981|99990981	99990981|99990981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.965000|3.965000	0.56788|0.56788	1.866000|1.866000	0.54105|0.54105	0.544000|0.544000	0.68410|0.68410	GGC|AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_007052			56	56		154	154	1		1			0	0	64	0		1	0	0	0	0	0	0	56	154
NOX1	27035	broad.mit.edu	37	X	100117559	100117559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	165	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATACTCCACTGTCTGTGAA	0.473																																						ENST00000372966.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(493-495)Gtg>Atg		NADPH oxidase 1							210.0	189.0	196.0					X																	100117559		2203	4299	6502	SO:0001583	missense	27035	2	121402	40				g.chrX:100117559C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.493G>A	chrX.hg19:g.100117559C>T	ENSP00000362057:p.Val165Met						NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M	p.V165M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	0	1	1		Q9Y5S8	NOX1_HUMAN		6	698	-			A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	1	1	hg19	c.493G>A	CCDS14474.1	1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308253	0.40895	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.96041	-3.8;-3.89;-3.89	4.62	2.63	0.31362	4.62	2.63	0.31362	Flavoprotein transmembrane component (1);	0.377590	0.22478	N	0.059521	D	0.92958	0.7759	L	0.45581	1.43	0.26616	N	0.972746	B;P;P	0.41498	0.18;0.708;0.752	B;B;P	0.45913	0.09;0.364;0.497	D	0.86420	0.1754	10	0.36615	T	0.2	-6.3206	7.5402	0.27733	0.3339:0.5205:0.1456:0.0	.	128;165;165	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	M	165;165;128	ENSP00000362057:V165M;ENSP00000217885:V165M;ENSP00000362051:V128M	ENSP00000217885:V165M	V	-	1	0	0	NOX1	100004215	100004215	0.505000	0.26131	0.993000	0.49108	0.984000	0.73092	0.251000	0.18257	1.018000	0.39521	0.600000	0.82982	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	1	0	1		2	2	2	0		0	0	322		322	321	1	2.060000	-20.000000	1	0.170000	NM_007052			232	229		861	846	1		1	0		0	0	322	0		1	0	0	1	0	0	0	232	861
DRP2	1821	broad.mit.edu	37	X	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	475					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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGACATGAGCCTCAATTGG	0.488																																						ENST00000395209.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1423-1425)aGc>aAc		dystrophin related protein 2							185.0	154.0	164.0					X																	100503249		2203	4300	6503	SO:0001583	missense	1821	0	0					g.chrX:100503249G>A	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.1424G>A	chrX.hg19:g.100503249G>A	ENSP00000378635:p.Ser475Asn						DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N	p.S475N	NM_001939.2	NP_001930.2	0	1	1		Q13474	DRP2_HUMAN		13	1951	+			A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	1	1	hg19	c.1424G>A	CCDS14480.2	1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870939	0.51695	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	3.23	0.37069	5.17	3.23	0.37069	EF-hand domain, type 1 (1);	0.134549	0.64402	D	0.000001	T	0.49218	0.1544	N	0.14661	0.345	0.31643	N	0.647767	B	0.33413	0.411	B	0.37731	0.257	T	0.61436	-0.7063	10	0.87932	D	0	-8.3967	14.8724	0.70468	0.0:0.5098:0.4902:0.0	rs6621017;rs52814268;rs6621017	475	Q13474	DRP2_HUMAN	N	475;475;397;475	ENSP00000385038:S475N;ENSP00000378635:S475N;ENSP00000444752:S397N;ENSP00000441051:S475N	ENSP00000378635:S475N	S	+	2	0	0	DRP2	100389905	100389905	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.897000	0.56273	0.942000	0.37525	0.513000	0.50165	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-20.000000	1	0.170000	NM_001939			192	192		512	504	1		1	0		0	0	175	0		1	5.190869e-01	0	0	0	6	0	192	512
BTK	695	broad.mit.edu	37	X	100615114	100615114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	267	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		Missing (in XLA; severe). {ECO:0000269|PubMed:7849721}.		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)			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						CAGTGACATAGTTACTAGGAA	0.448									Agammaglobulinemia, X-linked																													ENST00000308731.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(799-801)aaC>aaT		Bruton agammaglobulinemia tyrosine kinase							171.0	140.0	150.0					X																	100615114		2203	4300	6503	SO:0001819	synonymous_variant	695	0	0		Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	g.chrX:100615114G>A	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.801C>T	chrX.hg19:g.100615114G>A							BTK_ENST00000372880.1_Silent_p.N267N	p.N267N	NM_000061.2	NP_000052.1	0	1	1		Q06187	BTK_HUMAN		9	964	-			B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	1	1	hg19	c.801C>T	CCDS14482.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	1	0	1		2	2	2	0		0	0	128		128	129	1	2.060000	-20.000000	1	0.170000	NM_000061			119	113		378	367	1		1	0		0	0	128	0		1	9.999896e-01	0	0	0	55	0	119	378
BTK	695	broad.mit.edu	37	X	100630208	100630208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	22	Inositol-(1,3,4,5)-tetrakisphosphate 1- binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						GAAGTTTAGAGGTGATGTTTT	0.443									Agammaglobulinemia, X-linked																													ENST00000308731.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(64-66)cCt>cTt		Bruton agammaglobulinemia tyrosine kinase							195.0	171.0	179.0					X																	100630208		2203	4300	6503	SO:0001583	missense	695	0	0		Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	g.chrX:100630208G>A	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.65C>T	chrX.hg19:g.100630208G>A	ENSP00000308176:p.Pro22Leu						BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	p.P22L	NM_000061.2	NP_000052.1	0	1	1		Q06187	BTK_HUMAN		2	228	-			B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	1	1	hg19	c.65C>T	CCDS14482.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387602	0.82902	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93659	-3.26;-3.26	5.35	5.35	0.76521	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	D;D;D	0.87578	0.912;0.933;0.998	D	0.95856	0.8879	10	0.51188	T	0.08	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	22;22;22	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	L	22	ENSP00000361971:P22L;ENSP00000308176:P22L	ENSP00000308176:P22L	P	-	2	0	0	BTK	100516864	100516864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.237000	0.73441	0.600000	0.82982	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	1	0	1		2	2	2	0		0	0	193		193	193	1	2.060000	-6.661004	1	0.170000	NM_000061			184	183		543	531	1		1	0		0	0	193	0		1	9.999978e-01	0	0	0	57	0	184	543
ARMCX6	54470	broad.mit.edu	37	X	100871474	100871474	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000361910.4	-	3	481	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	46						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537																																						ENST00000361910.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(136-138)gAc>gGc		armadillo repeat containing, X-linked 6							92.0	84.0	87.0					X																	100871474		2203	4300	6503	SO:0001583	missense	54470	0	0					g.chrX:100871474T>C	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.137A>G	chrX.hg19:g.100871474T>C	ENSP00000354708:p.Asp46Gly						ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G	p.D46G	NM_019007.3	NP_061880.2	0	1	1		Q7L4S7	ARMX6_HUMAN		3	481	-			Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	1	1	hg19	c.137A>G	CCDS14488.1	1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652539	0.14580	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52295	0.67;0.67;0.67	3.71	2.55	0.30701	3.71	2.55	0.30701	.	0.616408	0.13717	N	0.367662	T	0.33731	0.0873	L	0.38175	1.15	0.24072	N	0.99597	B	0.12013	0.005	B	0.08055	0.003	T	0.24941	-1.0146	10	0.52906	T	0.07	-1.718	4.934	0.13932	0.0:0.1394:0.0:0.8606	.	46	Q7L4S7	ARMX6_HUMAN	G	46	ENSP00000354708:D46G;ENSP00000444537:D46G;ENSP00000440648:D46G	ENSP00000354708:D46G	D	-	2	0	0	ARMCX6	100758130	100758130	0.954000	0.32549	0.643000	0.29450	0.418000	0.31294	1.764000	0.38471	0.628000	0.30357	0.385000	0.25706	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	1	0	1		2	2	2	0		0	0	75		75	74	1	2.060000	-20.000000	1	0.170000	NM_019007			64	62		305	292	1		1	0		0	0	75	0		1	9.875064e-01	0	0	0	35	0	64	305
ARMCX2	9823	broad.mit.edu	37	X	100911186	100911186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000356824.4_Silent_p.G463G|ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	463						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378																																						ENST00000328766.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1387-1389)ggC>ggT		armadillo repeat containing, X-linked 2							127.0	124.0	125.0					X																	100911186		2203	4300	6503	SO:0001819	synonymous_variant	9823	0	0					g.chrX:100911186G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1389C>T	chrX.hg19:g.100911186G>A							ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G	p.G463G	NM_014782.5	NP_055597.1	0	1	1		Q7L311	ARMX2_HUMAN		5	1842	-			O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	1	1	hg19	c.1389C>T	CCDS14490.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	0	0	0		17	5	2	1		1	1	136		136	135	1	2.060000	-20.000000	1	0.170000	NM_014782			153	151		500	494	1		1	0		1	0	136	0		1	9.999991e-01	0	0	0	96	0	153	500
ARMCX2	9823	broad.mit.edu	37	X	100911224	100911224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	451						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413																																						ENST00000328766.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(1351-1353)Gcc>Acc		armadillo repeat containing, X-linked 2							130.0	122.0	124.0					X																	100911224		2203	4300	6503	SO:0001583	missense	9823	0	0					g.chrX:100911224C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1351G>A	chrX.hg19:g.100911224C>T	ENSP00000331662:p.Ala451Thr						ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T	p.A451T	NM_014782.5	NP_055597.1	0	1	1		Q7L311	ARMX2_HUMAN		5	1804	-			O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	1	1	hg19	c.1351G>A	CCDS14490.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945747	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.58060	0.36;0.36;0.36	3.87	3.87	0.44632	3.87	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.110754	0.64402	D	0.000008	T	0.54431	0.1858	L	0.48362	1.52	0.43798	D	0.996347	P	0.46457	0.878	P	0.54210	0.745	T	0.47114	-0.9142	10	0.25106	T	0.35	-2.7442	10.2206	0.43194	0.0:1.0:0.0:0.0	.	451	Q7L311	ARMX2_HUMAN	T	451	ENSP00000331662:A451T;ENSP00000328631:A451T;ENSP00000349281:A451T	ENSP00000331662:A451T	A	-	1	0	0	ARMCX2	100797880	100797880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.075000	0.41538	2.167000	0.68274	0.422000	0.28245	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	1	0	0		2	2	2	0		0	0	132		132	131	1	2.060000	-6.571644	1	0.170000	NM_014782			140	140		402	397	1		1	0		0	0	132	0		1	9.999989e-01	0	0	0	59	0	140	402
ZMAT1	84460	broad.mit.edu	37	X	101139427	101139427	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T|ZMAT1_ENST00000458570.1_Silent_p.T153T	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	324						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388																																						ENST00000372782.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(970-972)acT>acG		zinc finger, matrin-type 1							120.0	111.0	114.0					X																	101139427		2203	4300	6503	SO:0001819	synonymous_variant	84460	0	0					g.chrX:101139427A>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.972T>G	chrX.hg19:g.101139427A>C							ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T|ZMAT1_ENST00000458570.1_Silent_p.T153T	p.T324T	NM_001011657.3	NP_001011657	0	1	1		Q5H9K5	ZMAT1_HUMAN		7	1019	-			Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	1	1	hg19	c.972T>G	CCDS35348.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	1	0	1		2	2	2	0		0	0	155		155	154	1	2.060000	-20.000000	1	0.170000				174	173		543	534	1		1	0		0	0	155	0		1	6.149981e-01	0	0	0	8	0	174	543
ZMAT1	84460	broad.mit.edu	37	X	101141638	101141638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348																																						ENST00000372782.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(571-573)Cgg>Tgg		zinc finger, matrin-type 1							137.0	115.0	123.0					X																	101141638		2202	4300	6502	SO:0001583	missense	84460	0	0					g.chrX:101141638G>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.571C>T	chrX.hg19:g.101141638G>A	ENSP00000361868:p.Arg191Trp						ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W	p.R191W	NM_001011657.3	NP_001011657	0	1	1		Q5H9K5	ZMAT1_HUMAN		6	618	-			Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	1	1	hg19	c.571C>T	CCDS35348.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680189	0.47886	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.45668	1.86;1.86;0.89	4.94	4.08	0.47627	4.94	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.360719	0.20577	N	0.089616	T	0.36220	0.0959	L	0.47716	1.5	0.36786	D	0.884615	B	0.15473	0.013	B	0.14578	0.011	T	0.40590	-0.9555	10	0.87932	D	0	-0.1043	10.11	0.42557	0.0995:0.0:0.9005:0.0	.	191	Q5H9K5	ZMAT1_HUMAN	W	191;191;20	ENSP00000361868:R191W;ENSP00000437529:R191W;ENSP00000413044:R20W	ENSP00000361868:R191W	R	-	1	2	2	ZMAT1	101028294	101028294	1.000000	0.71417	0.953000	0.39169	0.968000	0.65278	4.378000	0.59568	1.201000	0.43203	0.594000	0.82650	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	0	0	0		10	2	2	1		1	1	66		66	64	1	2.060000	-3.248520	1	0.170000				33	32		127	127	0		1	1		1	0	66	0		9.999662e-01	8.138825e-01	0	3	0	11	0	33	127
CLCN4	1183	broad.mit.edu	37	X	10180547	10180547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	477					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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGTGGGCGCGATAGCGGGC	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1429-1431)gCg>gTg		chloride channel, voltage-sensitive 4							82.0	72.0	76.0					X																	10180547		2203	4300	6503	SO:0001583	missense	1183	0	0					g.chrX:10180547C>T	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.1430C>T	chrX.hg19:g.10180547C>T	ENSP00000370213:p.Ala477Val						CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	p.A477V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	0	1	1		P51793	CLCN4_HUMAN		10	1821	+			A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	1	1	hg19	c.1430C>T	CCDS14137.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.326636	0.95708	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.97430	-4.38;-4.38;-4.38	5.46	5.46	0.80206	5.46	5.46	0.80206	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98425	1.0579	10	0.87932	D	0	-43.1916	18.4584	0.90729	0.0:1.0:0.0:0.0	.	477	P51793	CLCN4_HUMAN	V	477;446;383	ENSP00000370213:A477V;ENSP00000370209:A446V;ENSP00000405754:A383V	ENSP00000370209:A446V	A	+	2	0	0	CLCN4	10140547	10140547	1.000000	0.71417	0.327000	0.25402	0.947000	0.59692	7.663000	0.83820	2.301000	0.77427	0.513000	0.50165	GCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1	1	0	1		2	2	2	0		0	0	89		89	87	1	2.060000	-20.000000	1	0.170000				86	85		373	367	1		1	1		0	0	89	0		1	8.749461e-01	0	10	0	8	0	86	373
ZMAT1	84460	broad.mit.edu	37	X	101152901	101152901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	149						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413																																						ENST00000372782.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(445-447)Ctg>Atg		zinc finger, matrin-type 1							148.0	113.0	125.0					X																	101152901		2203	4300	6503	SO:0001583	missense	84460	0	0					g.chrX:101152901G>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.445C>A	chrX.hg19:g.101152901G>T	ENSP00000361868:p.Leu149Met						ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	p.L149M	NM_001011657.3	NP_001011657	0	1	1		Q5H9K5	ZMAT1_HUMAN		5	492	-			Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	1	1	hg19	c.445C>A	CCDS35348.1	1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080019	0.08533	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.50813	0.73;0.73	4.59	0.583	0.17417	4.59	0.583	0.17417	Zinc finger, U1-type (1);	1.020460	0.07905	N	0.973291	T	0.52533	0.1740	L	0.49256	1.55	0.20403	N	0.999909	D	0.76494	0.999	D	0.65233	0.933	T	0.37663	-0.9696	10	0.41790	T	0.15	0.002	0.3831	0.00398	0.2056:0.2103:0.272:0.3121	.	149	Q5H9K5	ZMAT1_HUMAN	M	149	ENSP00000361868:L149M;ENSP00000437529:L149M	ENSP00000361868:L149M	L	-	1	2	2	ZMAT1	101039557	101039557	0.441000	0.25626	0.020000	0.16555	0.163000	0.22366	0.108000	0.15396	0.084000	0.17077	0.502000	0.49764	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	1	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000				111	108		308	304	1		1	0		0	0	93	0		1	2.894521e-01	0	0	0	4	0	111	308
ARMCX5	64860	broad.mit.edu	37	X	101857630	101857630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	187										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458																																						ENST00000604957.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(559-561)tgG>tgT		armadillo repeat containing, X-linked 5							125.0	128.0	127.0					X																	101857630		2202	4300	6502	SO:0001583	missense	64860	0	0					g.chrX:101857630G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.561G>T	chrX.hg19:g.101857630G>T	ENSP00000474720:p.Trp187Cys						ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA	p.W187C	NM_001168478.1	NP_001161950.1	0	1	1		Q6P1M9	ARMX5_HUMAN		1	3183	+			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	1	1	hg19	c.561G>T	CCDS14500.1	1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327715	0.41197	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	3.59	3.59	0.41128	3.59	3.59	0.41128	.	0.000000	0.39274	N	0.001411	T	0.28928	0.0718	L	0.29908	0.895	0.53688	D	0.999974	D	0.76494	0.999	P	0.61275	0.886	T	0.03423	-1.1038	10	0.56958	D	0.05	-3.0791	12.3775	0.55289	0.0:0.0:1.0:0.0	.	187	Q6P1M9	ARMX5_HUMAN	C	187	ENSP00000246174:W187C;ENSP00000439001:W187C;ENSP00000446385:W187C;ENSP00000445851:W187C;ENSP00000361827:W187C	ENSP00000246174:W187C	W	+	3	0	0	ARMCX5	101744286	101744286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.695000	0.61767	2.069000	0.61940	0.600000	0.82982	TGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	1	0	1		2	2	2	0		0	0	190		190	187	1	2.060000	-20.000000	1	0.170000	NM_022838			134	131		476	467	1		1	1		0	0	190	0		1	9.990502e-01	0	21	0	18	0	134	476
ARMCX5	64860	broad.mit.edu	37	X	101857782	101857782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	238										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473																																						ENST00000604957.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(712-714)gGg>gAg		armadillo repeat containing, X-linked 5							115.0	104.0	108.0					X																	101857782		2203	4300	6503	SO:0001583	missense	64860	0	0					g.chrX:101857782G>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.713G>A	chrX.hg19:g.101857782G>A	ENSP00000474720:p.Gly238Glu						ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA	p.G238E	NM_001168478.1	NP_001161950.1	0	1	1		Q6P1M9	ARMX5_HUMAN		1	3335	+			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	1	1	hg19	c.713G>A	CCDS14500.1	1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255523	0.01457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.7	-0.383	0.12477	3.7	-0.383	0.12477	.	0.740477	0.11663	N	0.541642	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	-0.414	0.6024	0.00747	0.2441:0.1952:0.3703:0.1904	.	238	Q6P1M9	ARMX5_HUMAN	E	238	ENSP00000246174:G238E;ENSP00000439001:G238E;ENSP00000446385:G238E;ENSP00000445851:G238E;ENSP00000361827:G238E	ENSP00000246174:G238E	G	+	2	0	0	ARMCX5	101744438	101744438	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.077000	0.11394	-0.210000	0.10140	-0.912000	0.02778	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-2.957810	1	0.170000	NM_022838			71	66		307	304	1		1	1		0	0	111	0		1	9.954387e-01	0	20	0	18	0	71	307
GPRASP1	9737	broad.mit.edu	37	X	101909574	101909574	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000361600.5	+	5	1534	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	245					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAACCAGGAGCTCTATATTGC	0.458																																						ENST00000361600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(733-735)Ctc>Ttc		G protein-coupled receptor associated sorting protein 1							148.0	151.0	150.0					X																	101909574		2203	4300	6503	SO:0001583	missense	9737	2	121410	37				g.chrX:101909574C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.733C>T	chrX.hg19:g.101909574C>T	ENSP00000355146:p.Leu245Phe						GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA	p.L245F	NM_014710.4	NP_055525.3	0	1	1		Q5JY77	GASP1_HUMAN		5	1534	+			O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	1	1	hg19	c.733C>T	CCDS35352.1	1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813492	0.16537	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.95	-1.3	0.09259	1.95	-1.3	0.09259	.	.	.	.	.	T	0.02083	0.0065	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44421	-0.9329	9	0.10377	T	0.69	-0.3033	0.198	0.00141	0.21:0.2615:0.2073:0.3212	.	245	Q5JY77	GASP1_HUMAN	F	245	ENSP00000393691:L245F;ENSP00000409420:L245F;ENSP00000355146:L245F;ENSP00000445683:L245F	ENSP00000355146:L245F	L	+	1	0	0	GPRASP1	101796230	101796230	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.849000	0.04322	-0.523000	0.06409	0.279000	0.19357	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	0	0	1		2	2	2	0		0	0	239		239	235	1	2.060000	-20.000000	1	0.170000	NM_014710			185	183		732	716	1		1	0		0	0	239	0		1	7.700989e-01	0	0	0	13	0	185	732
GPRASP1	9737	broad.mit.edu	37	X	101912242	101912242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000361600.5	+	5	4202	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1134	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAAGGAGAGTACAGAGCCT	0.433																																						ENST00000361600.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(3400-3402)aGt>aAt		G protein-coupled receptor associated sorting protein 1							114.0	102.0	106.0					X																	101912242		2203	4300	6503	SO:0001583	missense	9737	0	0					g.chrX:101912242G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3401G>A	chrX.hg19:g.101912242G>A	ENSP00000355146:p.Ser1134Asn						GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA	p.S1134N	NM_014710.4	NP_055525.3	0	1	1		Q5JY77	GASP1_HUMAN		5	4202	+			O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	1	1	hg19	c.3401G>A	CCDS35352.1	1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120952	0.01785	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	2.74	0.891	0.19224	2.74	0.891	0.19224	Armadillo-type fold (1);	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.28991	0.097	T	0.26643	-1.0097	9	0.52906	T	0.07	-6.343	4.4784	0.11755	0.3479:0.0:0.6521:0.0	.	1134	Q5JY77	GASP1_HUMAN	N	1134	ENSP00000393691:S1134N;ENSP00000409420:S1134N;ENSP00000355146:S1134N;ENSP00000445683:S1134N	ENSP00000355146:S1134N	S	+	2	0	0	GPRASP1	101798898	101798898	0.344000	0.24827	0.266000	0.24541	0.127000	0.20565	0.916000	0.28651	0.116000	0.18110	0.284000	0.19432	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	1	0	1		2	2	2	0		0	0	117		117	116	1	2.060000	-20.000000	1	0.170000	NM_014710			117	116		430	423	1		1	0		0	0	117	0		1	9.206332e-01	0	1	0	17	0	117	430
GPRASP1	9737	broad.mit.edu	37	X	101912585	101912585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000361600.5	+	5	4545	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1248	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTATAGCGTGGATTCCC	0.408																																						ENST00000361600.5	0.580000	0.230000	4.800000e-01	3.000000e-01	0.380000	0.396598	0.380000	0.380000																										1	Deletion - In frame(1)	p.S1248_D1250delSVD(1)	prostate(1)	60						c.(3742-3744)agC>agT		G protein-coupled receptor associated sorting protein 1							98.0	86.0	90.0					X																	101912585		2203	4300	6503	SO:0001819	synonymous_variant	9737	0	0					g.chrX:101912585C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3744C>T	chrX.hg19:g.101912585C>T							GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA	p.S1248S	NM_014710.4	NP_055525.3	0	1	1		Q5JY77	GASP1_HUMAN		5	4545	+			O43168|Q96LA1	Silent	SNP	ENST00000361600.5	1	1	hg19	c.3744C>T	CCDS35352.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	0	0	1		2	2	2	0		0	0	144		144	141	1	2.060000	-3.171062	1	0.170000	NM_014710			17	17		510	505	0		1	0		0	0	144	0		9.999631e-01	2.100029e-01	0	0	0	25	0	17	510
GPRASP2	114928	broad.mit.edu	37	X	101969867	101969867	+	Missense_Mutation	SNP	G	G	A	rs374391200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000535209.1	+	4	901	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	24						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAGGTTATCGCTGGGCCTGA	0.522																																						ENST00000535209.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(70-72)Gct>Act		G protein-coupled receptor associated sorting protein 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3834		0,1,1631,571	114.0	108.0	110.0		70,70,70,70,70,70	-1.4	0.0	X		110	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	58,58,58,58,58,58	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign	24/839,24/839,24/839,24/839,24/839,24/839	101969867	1,10562	2203	4300	6503	SO:0001583	missense	114928	0	0					g.chrX:101969867G>A	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.70G>A	chrX.hg19:g.101969867G>A	ENSP00000437394:p.Ala24Thr						GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T	p.A24T			0	1	1		Q96D09	GASP2_HUMAN		4	901	+			D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	1	1	hg19	c.70G>A	CCDS14501.1	1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251175	0.05867	2.61E-4	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	2.95	-1.43	0.08884	2.95	-1.43	0.08884	.	1.467860	0.04411	N	0.366081	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40869	-0.9540	10	0.21014	T	0.42	.	3.8041	0.08770	0.3948:0.1847:0.4205:0.0	.	24	Q96D09	GASP2_HUMAN	T	24	ENSP00000437872:A24T;ENSP00000437394:A24T;ENSP00000339057:A24T	ENSP00000339057:A24T	A	+	1	0	0	GPRASP2	101856523	101856523	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.757000	0.04697	-0.478000	0.04885	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1		2	2	2	0		0	0	137		137	137	1	2.060000	-20.000000	1	0.170000	NM_138437			156	154		484	475	1		1	1		0	0	137	0		1	9.854663e-01	0	4	0	19	0	156	484
GPRASP2	114928	broad.mit.edu	37	X	101970438	101970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000535209.1	+	4	1472	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	214						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCCCAGGGCCAGAGAGGAG	0.542																																						ENST00000535209.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(640-642)gCc>gTc		G protein-coupled receptor associated sorting protein 2							100.0	109.0	106.0					X																	101970438		2203	4300	6503	SO:0001583	missense	114928	0	0					g.chrX:101970438C>T	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.641C>T	chrX.hg19:g.101970438C>T	ENSP00000437394:p.Ala214Val						GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V	p.A214V			0	1	1		Q96D09	GASP2_HUMAN		4	1472	+			D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	1	1	hg19	c.641C>T	CCDS14501.1	1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085611	0.20390	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07114	3.22;3.22;3.22	5.05	3.25	0.37280	5.05	3.25	0.37280	.	0.306114	0.23861	N	0.043841	T	0.05318	0.0141	N	0.20530	0.585	0.32385	N	0.55402	B	0.21905	0.062	B	0.19391	0.025	T	0.22452	-1.0216	10	0.25751	T	0.34	.	8.2111	0.31483	0.0:0.7519:0.1559:0.0922	.	214	Q96D09	GASP2_HUMAN	V	214	ENSP00000437872:A214V;ENSP00000437394:A214V;ENSP00000339057:A214V	ENSP00000339057:A214V	A	+	2	0	0	GPRASP2	101857094	101857094	0.678000	0.27586	0.396000	0.26296	0.002000	0.02628	1.146000	0.31589	0.590000	0.29694	-0.218000	0.12543	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1		2	2	2	0		0	0	208		208	206	1	2.060000	-4.670149	1	0.170000	NM_138437			195	188		674	660	1		1	1		0	0	208	0		1	9.848204e-01	0	7	0	18	0	195	674
GPRASP2	114928	broad.mit.edu	37	X	101970883	101970883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000535209.1	+	4	1917	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	362						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATACTGCCTTGAAACTCAGGG	0.458																																						ENST00000535209.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1084-1086)ttG>ttT		G protein-coupled receptor associated sorting protein 2							86.0	80.0	82.0					X																	101970883		2203	4300	6503	SO:0001583	missense	114928	0	0					g.chrX:101970883G>T	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.1086G>T	chrX.hg19:g.101970883G>T	ENSP00000437394:p.Leu362Phe						GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F	p.L362F			0	1	1		Q96D09	GASP2_HUMAN		4	1917	+			D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	1	1	hg19	c.1086G>T	CCDS14501.1	1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238499	0.01493	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.2	3.34	0.38264	4.2	3.34	0.38264	.	0.214477	0.23748	N	0.044960	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.39840	0.311	T	0.20338	-1.0278	10	0.26408	T	0.33	.	9.3161	0.37934	0.1092:0.0:0.8908:0.0	.	362	Q96D09	GASP2_HUMAN	F	362	ENSP00000437872:L362F;ENSP00000437394:L362F;ENSP00000339057:L362F	ENSP00000339057:L362F	L	+	3	2	2	GPRASP2	101857539	101857539	0.282000	0.24268	0.236000	0.24074	0.014000	0.08584	0.221000	0.17680	1.135000	0.42183	0.600000	0.82982	TTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1		2	2	2	0		0	0	102		102	99	1	2.060000	-20.000000	1	0.170000	NM_138437			95	93		364	355	1		1	1		0	0	102	0		1	9.702617e-01	0	4	0	20	0	95	364
GLRA4	441509	broad.mit.edu	37	X	102974199	102974199	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.719G>T	c.(718-720)gGg>gTg	p.G240V	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	240						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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGTGAATTTCCCTGCAAGGAG	0.552																																						ENST00000372617.4	0.680000	0.280000	5.700000e-01	3.600000e-01	0.450000	0.473623	0.450000	0.450000																										0				21						c.(718-720)gGg>gTg		glycine receptor, alpha 4							79.0	81.0	81.0					X																	102974199		2195	4288	6483	SO:0001630	splice_region_variant	441509	0	0					g.chrX:102974199C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.719-1G>T	chrX.hg19:g.102974199C>A							GLRA4_ENST00000469567.1_5'Flank	p.G240V	NM_001024452.2	NP_001019623.2	0	1	1		Q5JXX5	GLRA4_HUMAN		7	1139	-				Splice_Site	SNP	ENST00000372617.4	0	1	hg19	c.719G>T	CCDS43980.2	0	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252104	0.80135	.	.	ENSG00000188828	ENST00000372617	T	0.81163	-1.46	5.29	5.29	0.74685	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94951	0.8100	10	0.87932	D	0	.	15.6	0.76616	0.0:1.0:0.0:0.0	.	240;199	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	V	240	ENSP00000361700:G240V	ENSP00000361700:G240V	G	-	2	0	0	GLRA4	102860855	102860855	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.366000	0.80165	0.600000	0.82982	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	0	0	1		2	2	2	0		0	0	122		122	121	1	2.060000	-2.758035	1	0.170000	NM_001024452	Missense_Mutation		18	19		447	436	0		1			0	0	122	0		9.999790e-01	0	0	0	0	0	0	18	447
MID1	4281	broad.mit.edu	37	X	10417463	10417463	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000380785.1_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000479925.1_5'Flank|MID1_ENST00000453318.2_Missense_Mutation_p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	650	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)			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						CCCAGTGATAATCGTCAGACA	0.532																																						ENST00000317552.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1948-1950)aTt>aGt		midline 1							86.0	70.0	76.0					X																	10417463		2203	4300	6503	SO:0001583	missense	4281	0	0					g.chrX:10417463A>C	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.1949T>G	chrX.hg19:g.10417463A>C	ENSP00000312678:p.Ile650Ser						MID1_ENST00000479925.1_5'Flank|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380785.1_Missense_Mutation_p.I650S	p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	0	1	1		O15344	TRI18_HUMAN		10	2349	-			B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	1	1	hg19	c.1949T>G	CCDS14138.1	1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857486	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.5	5.5	0.81552	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.57899	0.981;0.981;0.961	P;P;D	0.64410	0.891;0.868;0.925	D	0.84339	0.0526	10	0.87932	D	0	.	14.7167	0.69275	1.0:0.0:0.0:0.0	.	650;650;600	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	S	650;650;650;650;650;650;600	ENSP00000414521:I650S;ENSP00000312678:I650S;ENSP00000370162:I650S;ENSP00000370156:I650S;ENSP00000370164:I650S;ENSP00000370157:I650S	ENSP00000312678:I650S	I	-	2	0	0	MID1	10377463	10377463	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.772000	0.91757	1.857000	0.53885	0.345000	0.21793	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000				72	68		224	220	1		1	1		0	0	80	0		1	9.520488e-01	0	7	0	11	0	72	224
MID1	4281	broad.mit.edu	37	X	10427733	10427733	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000380785.1_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	467	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GCCCGCCTGGTTGATGGCCTT	0.517																																						ENST00000317552.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1399-1401)aAc>aTc		midline 1							207.0	153.0	172.0					X																	10427733		2203	4300	6503	SO:0001583	missense	4281	0	0					g.chrX:10427733T>A	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.1400A>T	chrX.hg19:g.10427733T>A	ENSP00000312678:p.Asn467Ile						MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I	p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	0	1	1		O15344	TRI18_HUMAN		8	1800	-			B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	1	1	hg19	c.1400A>T	CCDS14138.1	1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641151	0.87859	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.34	5.34	0.76211	5.34	5.34	0.76211	Fibronectin, type III (4);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.67397	2.05	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	0.73953	-0.3820	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	467;467;417	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	467;467;467;467;467;467;467;417;467	ENSP00000414521:N467I;ENSP00000312678:N467I;ENSP00000370162:N467I;ENSP00000370156:N467I;ENSP00000370164:N467I;ENSP00000370157:N467I;ENSP00000370159:N467I;ENSP00000391154:N467I	ENSP00000312678:N467I	N	-	2	0	0	MID1	10387733	10387733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	1.787000	0.52448	0.481000	0.45027	AAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1	0	0	1		2	2	2	0		0	0	168		168	167	1	2.060000	-20.000000	1	0.170000				193	192		665	653	1		1	1		0	0	168	0		1	9.572693e-01	0	14	0	6	0	193	665
ESX1	80712	broad.mit.edu	37	X	103499510	103499510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	7					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CACTGTGGGTGTACCCGCGAA	0.587																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(19-21)taC>taT		ESX homeobox 1							172.0	142.0	152.0					X																	103499510		2203	4300	6503	SO:0001819	synonymous_variant	80712	0	0					g.chrX:103499510G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.21C>T	chrX.hg19:g.103499510G>A								p.Y7Y	NM_153448.3	NP_703149.1	0	1	1		Q8N693	ESX1_HUMAN		1	104	-			B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	1	1	hg19	c.21C>T	CCDS14516.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	0	0	1		2	2	2	1		1	0	243		243	238	1	2.060000	-20.000000	1	0.170000	NM_153448			242	241		812	800	1		1			1	0	243	0		1	0	0	0	0	0	0	242	812
IL1RAPL2	26280	broad.mit.edu	37	X	104440202	104440202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	43	Ig-like C2-type 1.				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)			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						ACATACATGGCTTTGGCAGGT	0.458																																						ENST00000372582.1	1.000000	0.980000	1	9.900000e-01	0.990000	0.998469	0.990000	1.000000																										0				49						c.(127-129)gCt>gTt		interleukin 1 receptor accessory protein-like 2							179.0	142.0	155.0					X																	104440202		2203	4300	6503	SO:0001583	missense	26280	0	0					g.chrX:104440202C>T	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.128C>T	chrX.hg19:g.104440202C>T	ENSP00000361663:p.Ala43Val						IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	p.A43V	NM_017416.1	NP_059112.1	0	1	1		Q9NP60	IRPL2_HUMAN		3	884	+			Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	1	1	hg19	c.128C>T	CCDS14517.1	1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242091	0.10077	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.73789	-0.78;-0.78	5.59	5.59	0.84812	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.37156	0.0993	N	0.00332	-1.63	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.53781	-0.8390	10	0.02654	T	1	.	13.2374	0.59976	0.0:0.8453:0.1547:0.0	.	43	Q9NP60	IRPL2_HUMAN	V	43	ENSP00000361663:A43V;ENSP00000344976:A43V	ENSP00000344976:A43V	A	+	2	0	0	IL1RAPL2	104326858	104326858	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.439000	0.59968	2.350000	0.79820	0.600000	0.82982	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	1	0	1		2	2	2	0		0	0	104		104	105	1	2.060000	-17.369480	1	0.170000	NM_017416			47	47		372	371	1		1			0	0	104	0		1	0	0	0	0	0	0	47	372
TEX13A	56157	broad.mit.edu	37	X	104464070	104464070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000413579.1	-	5	917	c.806C>T	c.(805-807)tCg>tTg	p.S269L	TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.R270W			Q9BXU3	TX13A_HUMAN	testis expressed 13A	269							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTTTCGACCGACCGGAGATC	0.537																																						ENST00000413579.1	0.710000	0.200000	5.700000e-01	2.900000e-01	0.410000	0.438941	0.410000	0.400000																										0				8						c.(805-807)tCg>tTg		testis expressed 13A							87.0	88.0	87.0					X																	104464070		2078	4208	6286	SO:0001583	missense	56157	1	121018	30				g.chrX:104464070G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.806C>T	chrX.hg19:g.104464070G>A	ENSP00000399753:p.Ser269Leu						TEX13A_ENST00000372578.3_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000372582.1_Intron	p.S269L			0	1	1		Q9BXU3	TX13A_HUMAN		5	917	-			B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	1	1	hg19	c.806C>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768797|2.768797	0.49680|0.49680	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	3.45|3.45	0.39498|0.39498	3.45|3.45	3.45|3.45	0.39498|0.39498	.|.	.|0.294550	.|0.18682	.|N	.|0.134132	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.53035	.|0.716	T|T	0.35051|0.35051	-0.9804|-0.9804	6|9	0.87932|0.54805	D|T	0|0.06	.|.	9.4612|9.4612	0.38785|0.38785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|269	.|Q9BXU3	.|TX13A_HUMAN	W|L	270|269	.|.	ENSP00000361656:R270W|ENSP00000399753:S269L	R|S	-|-	1|2	2|0	2|0	TEX13A|TEX13A	104350726|104350726	104350726|104350726	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.334000|1.334000	0.33827|0.33827	1.976000|1.976000	0.57569|0.57569	0.513000|0.513000	0.50165|0.50165	CGG|TCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		16	2	2	0		0	1	52		52	52	1	2.060000	-3.544966	1	0.170000	NM_031274			9	9		252	244	0		0			0	0	52	0		9.308384e-02	0	0	0	0	0	0	9	252
TEX13A	56157	broad.mit.edu	37	X	104464394	104464394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464394G>T	ENST00000413579.1	-	3	595	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.L162M			Q9BXU3	TX13A_HUMAN	testis expressed 13A	162							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAGTGGCCAGGCCTGGCCAC	0.652																																						ENST00000413579.1	0.520000	0.110000	4.000000e-01	1.800000e-01	0.270000	0.296230	0.270000	0.260000																										0				8						c.(484-486)Ctg>Atg		testis expressed 13A							20.0	23.0	22.0					X																	104464394		2049	4071	6120	SO:0001583	missense	56157	0	0					g.chrX:104464394G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.484C>A	chrX.hg19:g.104464394G>T	ENSP00000399753:p.Leu162Met						TEX13A_ENST00000372578.3_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000372582.1_Intron	p.L162M			0	1	1		Q9BXU3	TX13A_HUMAN		3	595	-			B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	0	1	hg19	c.484C>A		0	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495161	0.26774	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.65	0.636	0.17729	2.65	0.636	0.17729	.	1.458410	0.05184	N	0.501986	T	0.59376	0.2189	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.42155	-0.9468	8	0.51188	T	0.08	.	7.7274	0.28767	0.0:0.5363:0.4637:0.0	.	162;162	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	162	.	ENSP00000361656:L162M	L	-	1	2	2	TEX13A	104351050	104351050	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.664000	0.05292	0.056000	0.16144	0.422000	0.28245	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	54		54	54	1	2.060000	-7.342046	1	0.170000	NM_031274			6	6		265	262	0		1			0	0	54	0		9.642322e-01	0	0	0	0	0	0	6	265
TEX13A	56157	broad.mit.edu	37	X	104464816	104464816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464816C>A	ENST00000413579.1	-	2	377	c.266G>T	c.(265-267)aGg>aTg	p.R89M	TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.R89M			Q9BXU3	TX13A_HUMAN	testis expressed 13A	89							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCGCACCCTGTGCCTTTG	0.632																																						ENST00000413579.1	0.650000	0.140000	5.000000e-01	2.200000e-01	0.340000	0.369230	0.340000	0.320000																										0				8						c.(265-267)aGg>aTg		testis expressed 13A							32.0	32.0	32.0					X																	104464816		2203	4292	6495	SO:0001583	missense	56157	0	0					g.chrX:104464816C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.266G>T	chrX.hg19:g.104464816C>A	ENSP00000399753:p.Arg89Met						TEX13A_ENST00000372578.3_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000372582.1_Intron	p.R89M			0	1	1		Q9BXU3	TX13A_HUMAN		2	377	-			B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	0	1	hg19	c.266G>T		0	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436760	0.25900	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	2.24	0.28232	3.11	2.24	0.28232	.	0.000000	0.33916	N	0.004425	T	0.61837	0.2379	.	.	.	0.58432	D	0.99999	D;D	0.62365	0.991;0.991	P;P	0.55785	0.784;0.784	T	0.60146	-0.7320	8	0.49607	T	0.09	.	5.6601	0.17664	0.0:0.8436:0.0:0.1564	.	89;89	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	89	.	ENSP00000361656:R89M	R	-	2	0	0	TEX13A	104351472	104351472	0.422000	0.25473	0.805000	0.32314	0.014000	0.08584	0.801000	0.27055	0.716000	0.32124	-0.315000	0.08773	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-7.883641	1	0.170000	NM_031274			6	6		210	209	0		1			0	0	57	0		9.651049e-01	0	0	0	0	0	0	6	210
TEX13A	56157	broad.mit.edu	37	X	104464827	104464827	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000413579.1	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	TEX13A_ENST00000372575.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.L85L			Q9BXU3	TX13A_HUMAN	testis expressed 13A	85							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627																																						ENST00000413579.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(253-255)ctA>ctG		testis expressed 13A							33.0	33.0	33.0					X																	104464827		2203	4293	6496	SO:0001819	synonymous_variant	56157	0	0					g.chrX:104464827T>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.255A>G	chrX.hg19:g.104464827T>C							TEX13A_ENST00000372578.3_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L|IL1RAPL2_ENST00000372582.1_Intron	p.L85L			0	1	1		Q9BXU3	TX13A_HUMAN		2	366	-			B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	1	1	hg19	c.255A>G		1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_031274			62	62		162	161	1		1			0	0	61	0		1	0	0	0	0	0	0	62	162
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	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)			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						AAGACAACAAGGAATATGATG	0.383																																						ENST00000372582.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1198-1200)aaG>aaT		interleukin 1 receptor accessory protein-like 2							99.0	90.0	93.0					X																	104999178		2203	4300	6503	SO:0001583	missense	26280	0	0					g.chrX:104999178G>T	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.1200G>T	chrX.hg19:g.104999178G>T	ENSP00000361663:p.Lys400Asn						IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	p.K400N	NM_017416.1	NP_059112.1	0	1	1		Q9NP60	IRPL2_HUMAN		10	1956	+			Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	1	1	hg19	c.1200G>T	CCDS14517.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954421	0.53293	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02787	4.16;4.16;4.16	5.62	2.57	0.30868	5.62	2.57	0.30868	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.64402	D	0.000004	T	0.16599	0.0399	M	0.91972	3.26	0.53005	D	0.999968	D	0.76494	0.999	D	0.80764	0.994	T	0.00087	-1.2092	10	0.87932	D	0	.	8.5678	0.33550	0.4625:0.0:0.5375:0.0	.	400	Q9NP60	IRPL2_HUMAN	N	400;400;5	ENSP00000361663:K400N;ENSP00000344976:K400N;ENSP00000445576:K5N	ENSP00000344976:K400N	K	+	3	2	2	IL1RAPL2	104885834	104885834	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.455000	0.21843	0.067000	0.16545	0.600000	0.82982	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	1	0	1		2	2	2	0		0	0	94		94	94	1	2.060000	-4.135452	1	0.170000	NM_017416			81	79		269	268	1		1			0	0	94	0		1	0	0	0	0	0	0	81	269
NRK	203447	broad.mit.edu	37	X	105179162	105179162	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000243300.9	+	21	3803	c.3500T>C	c.(3499-3501)tTa>tCa	p.L1167S	NRK_ENST00000428173.2_Splice_Site_p.L1168S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1167					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)			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						ATCTTTGCAGTATACGCTGGA	0.388										HNSCC(51;0.14)																												ENST00000243300.9	0.450000	0.090000	3.400000e-01	1.500000e-01	0.230000	0.255760	0.230000	0.220000																										0				76						c.(3499-3501)tTa>tCa		Nik related kinase							160.0	141.0	147.0					X																	105179162		1877	4089	5966	SO:0001630	splice_region_variant	203447	0	0					g.chrX:105179162T>C	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.3500-1T>C	chrX.hg19:g.105179162T>C			HNSCC(51;0.14)				NRK_ENST00000428173.2_Splice_Site_p.L1168S	p.L1167S	NM_198465.2	NP_940867.2	0	1	1		Q7Z2Y5	NRK_HUMAN		21	3803	+			Q32ND6|Q5H9K2|Q6ZMP2	Splice_Site	SNP	ENST00000243300.9	0	1	hg19	c.3500T>C		0	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193493	0.09599	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79554	-1.27;-1.28	4.78	2.34	0.29019	4.78	2.34	0.29019	.	1.495940	0.04486	N	0.378660	T	0.63010	0.2475	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.27882	0.06;0.192	B;B	0.18561	0.019;0.022	T	0.52741	-0.8535	9	.	.	.	.	1.8464	0.03160	0.28:0.1695:0.0:0.5505	.	835;1167	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1167;1168	ENSP00000434830:L1167S;ENSP00000438378:L1168S	.	L	+	2	0	0	NRK	105065818	105065818	1.000000	0.71417	0.747000	0.31113	0.136000	0.21042	0.991000	0.29654	0.813000	0.34350	0.486000	0.48141	TTA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	0	0		2	2	2	0		0	0	105		105	105	1	2.060000	-7.461673	1	0.170000	NM_198465	Missense_Mutation		6	6		309	303	0		1	0		0	0	105	0		9.632342e-01	0	0	0	0	1	0	6	309
NRK	203447	broad.mit.edu	37	X	105187998	105187998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	ENST00000243300.9	+	24	4327	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T	NRK_ENST00000428173.2_Missense_Mutation_p.A1343T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1342	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)			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						TTATGCATGGGCACCAAAGTC	0.318										HNSCC(51;0.14)																												ENST00000243300.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999976	0.990000	1.000000																										0				76						c.(4024-4026)Gca>Aca		Nik related kinase							120.0	98.0	105.0					X																	105187998		1847	4087	5934	SO:0001583	missense	203447	0	0					g.chrX:105187998G>A	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.4024G>A	chrX.hg19:g.105187998G>A	ENSP00000434830:p.Ala1342Thr		HNSCC(51;0.14)				NRK_ENST00000428173.2_Missense_Mutation_p.A1343T	p.A1342T	NM_198465.2	NP_940867.2	0	1	1		Q7Z2Y5	NRK_HUMAN		24	4327	+			Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	0	1	hg19	c.4024G>A		1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104157	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04970	3.52;3.52	5.44	4.57	0.56435	5.44	4.57	0.56435	Citron-like (2);	0.139426	0.33477	N	0.004877	T	0.11879	0.0289	M	0.71871	2.18	0.80722	D	1	B	0.31769	0.339	B	0.36030	0.216	T	0.01298	-1.1392	10	0.87932	D	0	.	12.2853	0.54789	0.0835:0.0:0.9165:0.0	.	1342	Q7Z2Y5	NRK_HUMAN	T	1342;1343	ENSP00000434830:A1342T;ENSP00000438378:A1343T	ENSP00000434830:A1342T	A	+	1	0	0	NRK	105074654	105074654	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.112000	0.64634	1.060000	0.40578	0.594000	0.82650	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	1	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-15.681300	1	0.170000	NM_198465			14	14		26	26	1		1	0		0	0	13	0		9.999214e-01	0	0	0	0	1	0	14	26
NRK	203447	broad.mit.edu	37	X	105189929	105189929	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000243300.9	+	25	4428	c.4125A>G	c.(4123-4125)atA>atG	p.I1375M	NRK_ENST00000428173.2_Missense_Mutation_p.I1376M|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1375	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)			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						ATATACGAATACTGGCAAAAA	0.443										HNSCC(51;0.14)																												ENST00000243300.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				76						c.(4123-4125)atA>atG		Nik related kinase							101.0	88.0	92.0					X																	105189929		1880	4113	5993	SO:0001583	missense	203447	0	0					g.chrX:105189929A>G	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.4125A>G	chrX.hg19:g.105189929A>G	ENSP00000434830:p.Ile1375Met		HNSCC(51;0.14)				NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.I1376M	p.I1375M	NM_198465.2	NP_940867.2	0	1	1		Q7Z2Y5	NRK_HUMAN		25	4428	+			Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	1	1	hg19	c.4125A>G		1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721956	0.48728	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.33	3.14	0.36123	4.33	3.14	0.36123	Citron-like (2);	0.000000	0.56097	D	0.000036	T	0.72309	0.3444	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72940	-0.4139	10	0.72032	D	0.01	.	6.1494	0.20303	0.7716:0.0:0.0:0.2284	.	1375	Q7Z2Y5	NRK_HUMAN	M	1375;1376	ENSP00000434830:I1375M;ENSP00000438378:I1376M	ENSP00000434830:I1375M	I	+	3	3	3	NRK	105076585	105076585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.184000	0.42575	0.749000	0.32854	0.486000	0.48141	ATA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_198465			41	40		119	113	1		1	0		0	0	46	0		1	0	0	0	0	1	0	41	119
SERPINA7	6906	broad.mit.edu	37	X	105279214	105279214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	262					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCATTCTTGCTGTAGTCCAT	0.463																																						ENST00000327674.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(784-786)aGc>aAc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						221.0	179.0	193.0					X																	105279214		2203	4300	6503	SO:0001583	missense	6906	0	0					g.chrX:105279214C>T	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.785G>A	chrX.hg19:g.105279214C>T	ENSP00000329374:p.Ser262Asn						SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N	p.S262N			0	1	1		P05543	THBG_HUMAN		2	1120	-			D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	1	1	hg19	c.785G>A	CCDS14518.1	1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134247	0.01742	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83992	-1.79;-1.79	4.63	-0.624	0.11552	4.63	-0.624	0.11552	Serpin domain (3);	0.446758	0.22838	N	0.055014	T	0.72162	0.3426	L	0.55103	1.725	0.19775	N	0.999957	B	0.06786	0.001	B	0.11329	0.006	T	0.54002	-0.8358	10	0.18276	T	0.48	.	5.4022	0.16303	0.0:0.2925:0.4333:0.2742	.	262	P05543	THBG_HUMAN	N	262	ENSP00000329374:S262N;ENSP00000361644:S262N	ENSP00000329374:S262N	S	-	2	0	0	SERPINA7	105165870	105165870	0.003000	0.15002	0.008000	0.14137	0.029000	0.11900	-0.139000	0.10358	-0.399000	0.07668	-1.008000	0.02478	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_000354			164	161		555	543	1		1			0	0	142	0		1	0	0	0	0	0	0	164	555
SERPINA7	6906	broad.mit.edu	37	X	105280503	105280503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	183					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTTTGGTTTGC	0.408																																						ENST00000327674.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(547-549)Ggg>Tgg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						168.0	148.0	155.0					X																	105280503		2203	4300	6503	SO:0001583	missense	6906	0	0					g.chrX:105280503C>A	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.547G>T	chrX.hg19:g.105280503C>A	ENSP00000329374:p.Gly183Trp						SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W	p.G183W			0	1	1		P05543	THBG_HUMAN		1	882	-			D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	1	1	hg19	c.547G>T	CCDS14518.1	1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396056	0.25205	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91295	-2.82;-2.82	4.7	1.97	0.26223	4.7	1.97	0.26223	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.96445	0.8840	H	0.98005	4.125	0.37093	D	0.899548	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	8.2327	0.31608	0.0:0.7401:0.0:0.2599	.	183	P05543	THBG_HUMAN	W	183	ENSP00000329374:G183W;ENSP00000361644:G183W	ENSP00000329374:G183W	G	-	1	0	0	SERPINA7	105167159	105167159	1.000000	0.71417	0.873000	0.34254	0.082000	0.17680	5.491000	0.66887	0.171000	0.19730	0.594000	0.82650	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1		2	2	2	0		0	0	193		193	193	1	2.060000	-7.040262	1	0.170000	NM_000354			187	182		534	525	1		1			0	0	193	0		1	0	0	0	0	0	0	187	534
SERPINA7	6906	broad.mit.edu	37	X	105280711	105280711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.Q113Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	113					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGATCAGATGCTGGAAGCCAT	0.478																																						ENST00000327674.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(337-339)caG>caA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						98.0	95.0	96.0					X																	105280711		2203	4300	6503	SO:0001819	synonymous_variant	6906	0	0					g.chrX:105280711C>T	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.339G>A	chrX.hg19:g.105280711C>T							SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.Q113Q	p.Q113Q			0	1	1		P05543	THBG_HUMAN		1	674	-			D3DUX1	Silent	SNP	ENST00000327674.4	1	1	hg19	c.339G>A	CCDS14518.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1		2	2	2	0		0	0	107		107	107	1	2.060000	-20.000000	1	0.170000	NM_000354			129	126		414	411	1		1			0	0	107	0		1	0	0	0	0	0	0	129	414
RNF128	79589	broad.mit.edu	37	X	106016155	106016155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	166	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328																																						ENST00000255499.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(496-498)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							111.0	93.0	99.0					X																	106016155		2203	4300	6503	SO:0001583	missense	79589	0	0					g.chrX:106016155T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.497T>G	chrX.hg19:g.106016155T>G	ENSP00000255499:p.Ile166Ser						RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	p.I166S	NM_194463.1	NP_919445.1	0	1	1		Q8TEB7	RN128_HUMAN		2	747	+			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	1	1	hg19	c.497T>G	CCDS14521.1	1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407574	0.62399	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.10960	2.82;2.82;2.82	5.65	5.65	0.86999	5.65	5.65	0.86999	Protease-associated domain, PA (1);	0.284101	0.37219	N	0.002198	T	0.31857	0.0810	M	0.80422	2.495	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.977	T	0.08700	-1.0709	10	0.87932	D	0	.	8.3492	0.32292	0.0:0.0893:0.0:0.9107	.	166;140	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	113;140;166	ENSP00000412610:I113S;ENSP00000316127:I140S;ENSP00000255499:I166S	ENSP00000255499:I166S	I	+	2	0	0	RNF128	105902811	105902811	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.987000	0.40687	1.889000	0.54706	0.417000	0.27973	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_024539			78	78		260	256	1		1	1		0	0	68	0		1	1	0	175	0	32	0	78	260
RNF128	79589	broad.mit.edu	37	X	106016311	106016311	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	218					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408																																						ENST00000255499.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(652-654)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							187.0	148.0	161.0					X																	106016311		2203	4300	6503	SO:0001583	missense	79589	0	0					g.chrX:106016311T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.653T>G	chrX.hg19:g.106016311T>G	ENSP00000255499:p.Ile218Ser						RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	p.I218S	NM_194463.1	NP_919445.1	0	1	1		Q8TEB7	RN128_HUMAN		2	903	+			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	1	1	hg19	c.653T>G	CCDS14521.1	1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055257	0.55325	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.33438	1.41;2.75;2.56	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.057243	0.64402	D	0.000002	T	0.25680	0.0625	N	0.14661	0.345	0.45272	D	0.998276	B;P	0.46395	0.237;0.877	B;P	0.46339	0.157;0.513	T	0.06552	-1.0820	10	0.56958	D	0.05	.	13.8541	0.63515	0.0:0.0:0.0:1.0	.	218;192	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	165;192;218	ENSP00000412610:I165S;ENSP00000316127:I192S;ENSP00000255499:I218S	ENSP00000255499:I218S	I	+	2	0	0	RNF128	105902967	105902967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.987000	0.63857	1.953000	0.56701	0.417000	0.27973	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	1	0	1		2	2	2	0		0	0	107		107	103	1	2.060000	-20.000000	1	0.170000	NM_024539			108	105		396	388	1		1	1		0	0	107	0		1	1	0	143	0	23	0	108	396
MORC4	79710	broad.mit.edu	37	X	106236586	106236586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000355610.4	-	3	456	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_ENST00000255495.7_Missense_Mutation_p.A61D|MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGATCTACAGCATTATCTGC	0.393																																						ENST00000355610.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(181-183)gCt>gAt		MORC family CW-type zinc finger 4							107.0	94.0	98.0					X																	106236586		1870	4093	5963	SO:0001583	missense	79710	0	0					g.chrX:106236586G>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.182C>A	chrX.hg19:g.106236586G>T	ENSP00000347821:p.Ala61Asp						MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D	p.A61D	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	0	1	1		Q8TE76	MORC4_HUMAN		3	456	-			A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	1	0	hg19	c.182C>A	CCDS14525.2	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553454	0.86127	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.84370	-1.84;-1.84	5.44	5.44	0.79542	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96314	0.9231	9	.	.	.	-13.0165	15.7844	0.78291	0.0:0.0:1.0:0.0	.	61;61	A1YR23;Q8TE76	.;MORC4_HUMAN	D	61	ENSP00000347821:A61D;ENSP00000255495:A61D	.	A	-	2	0	0	MORC4	106123242	106123242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.413000	0.81919	0.594000	0.82650	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	NM_024657			66	66		260	257	1		1	1		0	0	64	0		1	9.660338e-01	0	19	0	5	0	66	260
TSC22D3	1831	broad.mit.edu	37	X	106957916	106957916	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372397.2	-	3	561	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372383.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	80	Leucine-zipper.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517																																						ENST00000372397.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(238-240)Atc>Ctc		TSC22 domain family, member 3							177.0	156.0	163.0					X																	106957916		2203	4300	6503	SO:0001583	missense	1831	0	0					g.chrX:106957916T>G	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.238A>C	chrX.hg19:g.106957916T>G	ENSP00000361474:p.Ile80Leu						TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372383.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L	p.I80L	NM_004089.3	NP_004080.2	0	1	1		Q99576	T22D3_HUMAN		3	561	-			Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	1	1	hg19	c.238A>C	CCDS14531.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482291	0.84747	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.977;0.998	D;D	0.87578	0.949;0.998	D	0.84334	0.0523	9	0.87932	D	0	-12.8729	12.659	0.56803	0.0:0.0:0.0:1.0	.	146;80	Q99576-3;Q99576	.;T22D3_HUMAN	L	23;80;146;146;146;125;56;146;78;23	.	ENSP00000314655:I146L	I	-	1	0	0	TSC22D3	106844572	106844572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	ATC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-20.000000	1	0.170000	NM_198057			170	165		668	651	1		1	1		0	0	202	0		1	1	0	187	0	2392	0	170	668
MID2	11043	broad.mit.edu	37	X	107084366	107084366	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATCACCTGTGAGGTCTCCT	0.567																																						ENST00000262843.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(469-471)tgT>tgC		midline 2							53.0	46.0	49.0					X																	107084366		2203	4300	6503	SO:0001819	synonymous_variant	11043	0	0					g.chrX:107084366T>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.471T>C	chrX.hg19:g.107084366T>C							MID2_ENST00000443968.2_Silent_p.C157C	p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	0	1	1		Q9UJV3	TRIM1_HUMAN		2	1019	+			A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	1	1	hg19	c.471T>C	CCDS14532.2	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_012216			44	43		165	160	1		1	0		0	0	47	0		1	9.829665e-01	0	0	0	27	0	44	165
MID2	11043	broad.mit.edu	37	X	107160956	107160956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	ENST00000262843.6	+	7	1970	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	474	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAGATTGGCCGGGGCGCCAC	0.483													C|||	2	0.000529801	0.0	0.0	3775	,	,		16260	0.002		0.0	False		,,,				2504	0.0					ENST00000262843.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1420-1422)gcC>gcT		midline 2							121.0	102.0	108.0					X																	107160956		2203	4300	6503	SO:0001819	synonymous_variant	11043	4	121410	41				g.chrX:107160956C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1422C>T	chrX.hg19:g.107160956C>T							RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron	p.A474A	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	0	1	1		Q9UJV3	TRIM1_HUMAN		7	1970	+			A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	1	1	hg19	c.1422C>T	CCDS14532.2	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	1		2	2	2	0		0	0	133		133	132	1	2.060000	-20.000000	1	0.170000	NM_012216			88	83		320	310	0		1	0		0	0	133	0		1	7.218867e-01	0	0	0	11	0	88	320
MID2	11043	broad.mit.edu	37	X	107167644	107167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	MID2_ENST00000443968.2_Missense_Mutation_p.L473F|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	503	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGCATGGACTCCAGAGCGG	0.458																																						ENST00000262843.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1507-1509)Ctc>Ttc		midline 2							102.0	78.0	86.0					X																	107167644		2203	4300	6503	SO:0001583	missense	11043	0	0					g.chrX:107167644C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1507C>T	chrX.hg19:g.107167644C>T	ENSP00000262843:p.Leu503Phe						RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.L473F	p.L503F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	0	1	1		Q9UJV3	TRIM1_HUMAN		8	2055	+			A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	1	1	hg19	c.1507C>T	CCDS14532.2	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554462	0.86231	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;D	0.84873	-1.01;-1.91	5.99	5.99	0.97316	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.98;0.997	D	0.89238	0.3582	10	0.72032	D	0.01	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	503;473	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	503;473	ENSP00000262843:L503F;ENSP00000413976:L473F	ENSP00000262843:L503F	L	+	1	0	0	MID2	107054300	107054300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	2.536000	0.85505	0.600000	0.82982	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	1		2	2	2	0		0	0	87		87	86	1	2.060000	-20.000000	1	0.170000	NM_012216			76	76		268	266	1		1	0		0	0	87	0		1	9.976673e-01	0	1	0	34	0	76	268
TEX13B	56156	broad.mit.edu	37	X	107224738	107224738	+	Missense_Mutation	SNP	C	C	T	rs199689215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617																																						ENST00000302917.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(511-513)Gcc>Acc		testis expressed 13B							61.0	72.0	68.0					X																	107224738		2195	4276	6471	SO:0001583	missense	56156	0	0					g.chrX:107224738C>T	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.511G>A	chrX.hg19:g.107224738C>T	ENSP00000303777:p.Ala171Thr							p.A171T	NM_031273.2	NP_112563.1	0	1	1		Q9BXU2	TX13B_HUMAN		3	603	-			Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	1	1	hg19	c.511G>A	CCDS14534.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883802	0.33255	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.37	2.5	0.30297	3.37	2.5	0.30297	.	.	.	.	.	T	0.26774	0.0655	L	0.35854	1.095	0.09310	N	1	P	0.40970	0.734	B	0.39531	0.302	T	0.11665	-1.0578	8	0.52906	T	0.07	.	5.677	0.17753	0.0:0.8465:0.0:0.1535	.	171	Q9BXU2	TX13B_HUMAN	T	171	.	ENSP00000303777:A171T	A	-	1	0	0	TEX13B	107111394	107111394	0.028000	0.19301	0.003000	0.11579	0.024000	0.10985	1.307000	0.33516	0.792000	0.33850	0.415000	0.27848	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1	0	0	1		16	2	2	1		1	1	227		227	221	1	2.060000	-20.000000	1	0.170000				136	133		873	861	1		1			1	0	227	0		1	0	0	0	0	0	0	136	873
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602																																						ENST00000302917.1	0.580000	0.270000	5.000000e-01	3.400000e-01	0.410000	0.425834	0.410000	0.410000																										1	Substitution - coding silent(1)	p.S57S(1)	lung(1)	28						c.(169-171)agC>agT		testis expressed 13B							99.0	91.0	94.0					X																	107225187		2199	4300	6499	SO:0001819	synonymous_variant	56156	0	0					g.chrX:107225187G>A	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.171C>T	chrX.hg19:g.107225187G>A								p.S57S	NM_031273.2	NP_112563.1	0	1	1		Q9BXU2	TX13B_HUMAN		2	263	-			Q5JYF6	Silent	SNP	ENST00000302917.1	1	1	hg19	c.171C>T	CCDS14534.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1	0	0	1		2	2	2	0		0	0	160		160	159	1	2.060000	-3.354329	1	0.170000				26	26		713	705	0		1			0	0	160	0		9.999999e-01	0	0	0	0	0	0	26	713
COL4A6	1288	broad.mit.edu	37	X	107417832	107417832	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107417832A>G	ENST00000372216.4	-	31	3079	c.2979T>C	c.(2977-2979)ggT>ggC	p.G993G	COL4A6_ENST00000334504.7_Silent_p.G992G|COL4A6_ENST00000538570.1_Silent_p.G992G|COL4A6_ENST00000394872.2_Silent_p.G993G|COL4A6_ENST00000545689.1_Silent_p.G992G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	993	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCCAGGTCGACCAGCCTCTC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000372216.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(2977-2979)ggT>ggC		collagen, type IV, alpha 6																																				SO:0001819	synonymous_variant	1288	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107417832A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2979T>C	chrX.hg19:g.107417832A>G							COL4A6_ENST00000538570.1_Silent_p.G992G|COL4A6_ENST00000545689.1_Silent_p.G992G|COL4A6_ENST00000334504.7_Silent_p.G992G|COL4A6_ENST00000394872.2_Silent_p.G993G	p.G993G	NM_001847.2	NP_001838.2	0	1	1		Q14031	CO4A6_HUMAN		31	3079	-			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	1	0	hg19	c.2979T>C	CCDS14541.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	0	0	1		16	2	2	1		1	1	52		52	52	1	2.060000	-1.965485	0	0.170000				59	57		191	185	1		1	0		1	0	52	0		1	0	0	0	0	1	0	59	191
COL4A6	1288	broad.mit.edu	37	X	107418934	107418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000372216.4	-	29	2883	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	928	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCCAGTTGATCCTGGAAT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000372216.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(2782-2784)tCa>tTa		collagen, type IV, alpha 6							114.0	97.0	103.0					X																	107418934		2203	4300	6503	SO:0001583	missense	1288	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107418934G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2783C>T	chrX.hg19:g.107418934G>A	ENSP00000361290:p.Ser928Leu						COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L	p.S928L	NM_001847.2	NP_001838.2	0	1	1		Q14031	CO4A6_HUMAN		29	2883	-			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	1	1	hg19	c.2783C>T	CCDS14541.1	1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716629	0.15306	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.21	2.29	0.28610	5.21	2.29	0.28610	.	0.484707	0.15540	N	0.257006	T	0.79161	0.4399	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.27351	0.069;0.176;0.085;0.069	B;B;B;B	0.31547	0.029;0.132;0.102;0.062	T	0.66156	-0.5994	10	0.11182	T	0.66	.	5.6142	0.17422	0.2836:0.1396:0.5768:0.0	.	927;927;928;927	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	928;927;928;927;927;927	ENSP00000361290:S928L;ENSP00000334733:S927L;ENSP00000378340:S928L;ENSP00000443707:S927L;ENSP00000445236:S927L	ENSP00000334733:S927L	S	-	2	0	0	COL4A6	107305590	107305590	0.028000	0.19301	0.002000	0.10522	0.005000	0.04900	1.662000	0.37418	0.195000	0.20347	0.513000	0.50165	TCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1		2	2	2	0		0	0	88		88	88	1	2.060000	-20.000000	1	0.170000				59	59		213	204	1		1	0		0	0	88	0		1	0	0	0	0	1	0	59	213
COL4A6	1288	broad.mit.edu	37	X	107423784	107423784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000372216.4	-	25	2195	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	699	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACTCCCTGGCTCTCCTTTA	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000372216.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(2095-2097)Cca>Tca		collagen, type IV, alpha 6							64.0	50.0	55.0					X																	107423784		2203	4300	6503	SO:0001583	missense	1288	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107423784G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2095C>T	chrX.hg19:g.107423784G>A	ENSP00000361290:p.Pro699Ser						COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S	p.P699S	NM_001847.2	NP_001838.2	0	1	1		Q14031	CO4A6_HUMAN		25	2195	-			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	1	1	hg19	c.2095C>T	CCDS14541.1	1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614929	0.14129	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.16	4.29	0.51040	5.16	4.29	0.51040	.	0.417786	0.18228	N	0.147645	D	0.97629	0.9223	M	0.62088	1.915	0.09310	N	0.999991	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.995;0.992;1.0;0.989	D	0.93118	0.6522	10	0.40728	T	0.16	.	11.1653	0.48539	0.0:0.1351:0.7218:0.143	.	698;698;699;698	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	699;698;699;698;698;698	ENSP00000361290:P699S;ENSP00000334733:P698S;ENSP00000378340:P699S;ENSP00000443707:P698S;ENSP00000445236:P698S	ENSP00000334733:P698S	P	-	1	0	0	COL4A6	107310440	107310440	0.009000	0.17119	0.010000	0.14722	0.016000	0.09150	1.545000	0.36169	1.230000	0.43646	0.513000	0.50165	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1		2	2	2	0		0	0	42		42	41	1	2.060000	-20.000000	1	0.170000				44	42		118	115	1		1	0		0	0	42	0		1	1.822302e-01	0	0	0	3	0	44	118
COL4A6	1288	broad.mit.edu	37	X	107434631	107434631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000372216.4	-	19	1416	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	439	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTAGGTGGGCCTGGTGGACC	0.542									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000372216.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				92						c.(1315-1317)gGc>gTc		collagen, type IV, alpha 6							159.0	141.0	147.0					X																	107434631		2203	4300	6503	SO:0001583	missense	1288	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107434631C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1316G>T	chrX.hg19:g.107434631C>A	ENSP00000361290:p.Gly439Val						COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V	p.G439V	NM_001847.2	NP_001838.2	0	1	1		Q14031	CO4A6_HUMAN		19	1416	-			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	1	1	hg19	c.1316G>T	CCDS14541.1	1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065035	0.36470	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.43260	D	0.000600	D	0.99432	0.9799	M	0.91768	3.24	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	0.98693	1.0697	10	0.72032	D	0.01	.	17.3384	0.87288	0.0:1.0:0.0:0.0	.	438;438;439;438	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	439;438;439;438;438;438	ENSP00000361290:G439V;ENSP00000334733:G438V;ENSP00000378340:G439V;ENSP00000443707:G438V;ENSP00000445236:G438V	ENSP00000334733:G438V	G	-	2	0	0	COL4A6	107321287	107321287	1.000000	0.71417	0.557000	0.28306	0.877000	0.50540	5.212000	0.65225	2.562000	0.86427	0.600000	0.82982	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1		2	2	2	0		0	0	201		201	200	1	2.060000	-20.000000	1	0.170000				148	145		643	633	1		1	0		0	0	201	0		1	0	0	0	0	1	0	148	643
COL4A5	1287	broad.mit.edu	37	X	107936017	107936017	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000361603.2	+	48	4794	c.4550C>A	c.(4549-4551)cCt>cAt	p.P1517H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1523H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1517	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		P -> T (in APSX; juvenile type). {ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:9452056}.		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)			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						AGTACCATGCCTTTCATGTTC	0.438									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000361603.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				99						c.(4549-4551)cCt>cAt		collagen, type IV, alpha 5							129.0	99.0	109.0					X																	107936017		2203	4300	6503	SO:0001583	missense	1287	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107936017C>A	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.4550C>A	chrX.hg19:g.107936017C>A	ENSP00000354505:p.Pro1517His						COL4A5_ENST00000328300.6_Missense_Mutation_p.P1523H	p.P1517H	NM_000495.4	NP_000486.1	0	1	1		P29400	CO4A5_HUMAN		48	4794	+			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	1	1	hg19	c.4550C>A	CCDS14543.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821469	0.90873	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95069	-3.6;-3.6	5.82	5.82	0.92795	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	1520;1517	E7EVY4;P29400	.;CO4A5_HUMAN	H	1523;1517;1523	ENSP00000331902:P1523H;ENSP00000354505:P1517H	ENSP00000331902:P1523H	P	+	2	0	0	COL4A5	107822673	107822673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.594000	0.82650	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	1	0	1		2	2	2	0		0	0	76		76	76	1	2.060000	-4.257027	1	0.170000				75	75		253	251	1		1	0		0	0	76	0		1	8.305513e-01	0	0	0	13	0	75	253
IRS4	8471	broad.mit.edu	37	X	107978100	107978100	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	492					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)			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						TGAGCCCCAATTGTTCATAGG	0.572																																						ENST00000372129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1474-1476)aAt>aTt		insulin receptor substrate 4							131.0	122.0	125.0					X																	107978100		2203	4300	6503	SO:0001583	missense	8471	0	0					g.chrX:107978100T>A	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.1475A>T	chrX.hg19:g.107978100T>A	ENSP00000361202:p.Asn492Ile						RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	p.N492I	NM_003604.2	NP_003595.1	0	1	1		O14654	IRS4_HUMAN		1	1551	-				Missense_Mutation	SNP	ENST00000372129.2	1	1	hg19	c.1475A>T	CCDS14544.1	1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819291	0.32145	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.2	3.03	0.35002	4.2	3.03	0.35002	.	0.406336	0.24523	N	0.037795	T	0.22282	0.0537	N	0.24115	0.695	0.27948	N	0.937263	B	0.25312	0.123	B	0.24006	0.05	T	0.13124	-1.0521	10	0.45353	T	0.12	-3.4817	7.3493	0.26680	0.0:0.1108:0.0:0.8892	.	492	O14654	IRS4_HUMAN	I	492	ENSP00000361202:N492I	ENSP00000361202:N492I	N	-	2	0	0	IRS4	107864756	107864756	0.029000	0.19370	0.977000	0.42913	0.954000	0.61252	0.552000	0.23376	0.754000	0.32968	0.483000	0.47432	AAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	1		2	2	2	0		0	0	188		188	187	1	2.060000	-20.000000	1	0.170000	NM_003604			181	176		587	566	1		1			0	0	188	0		1	0	0	0	0	0	0	181	587
IRS4	8471	broad.mit.edu	37	X	107979104	107979104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	ENST00000372129.2	-	1	547	c.471C>T	c.(469-471)agC>agT	p.S157S	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	157	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						CTGCTCGCTGGCTCACGGAAA	0.637																																						ENST00000372129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(469-471)agC>agT		insulin receptor substrate 4							63.0	52.0	56.0					X																	107979104		2203	4300	6503	SO:0001819	synonymous_variant	8471	2	121404	29				g.chrX:107979104G>A	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.471C>T	chrX.hg19:g.107979104G>A							RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	p.S157S	NM_003604.2	NP_003595.1	0	1	1		O14654	IRS4_HUMAN		1	547	-				Silent	SNP	ENST00000372129.2	1	1	hg19	c.471C>T	CCDS14544.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	1		2	2	2	0		0	0	94		94	93	1	2.060000	-20.000000	1	0.170000	NM_003604			89	88		304	300	0		1			0	0	94	0		1	0	0	0	0	0	0	89	304
IRS4	8471	broad.mit.edu	37	X	107979287	107979287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	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	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						GTTTGAGCACGAAGTAGCGCC	0.627																																						ENST00000372129.2	0.590000	0.270000	5.100000e-01	3.300000e-01	0.410000	0.428154	0.410000	0.420000																										0				78						c.(286-288)ttC>ttT		insulin receptor substrate 4							70.0	58.0	62.0					X																	107979287		2200	4298	6498	SO:0001819	synonymous_variant	8471	0	0					g.chrX:107979287G>A	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.288C>T	chrX.hg19:g.107979287G>A							RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	p.F96F	NM_003604.2	NP_003595.1	0	1	1		O14654	IRS4_HUMAN		1	364	-				Silent	SNP	ENST00000372129.2	1	1	hg19	c.288C>T	CCDS14544.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-3.307251	1	0.170000	NM_003604			24	24		656	640	0		1			0	0	139	0		9.999996e-01	0	0	0	0	0	0	24	656
GUCY2F	2986	broad.mit.edu	37	X	108628419	108628419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1017					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)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCACGTAAGCCTGTAGATTCC	0.493																																						ENST00000218006.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67						c.(3049-3051)Ggc>Tgc		guanylate cyclase 2F, retinal							125.0	90.0	102.0					X																	108628419		2203	4300	6503	SO:0001583	missense	2986	0	0					g.chrX:108628419C>A	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.3049G>T	chrX.hg19:g.108628419C>A	ENSP00000218006:p.Gly1017Cys							p.G1017C	NM_001522.2	NP_001513.2	0	1	1		P51841	GUC2F_HUMAN		16	3340	-			Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	1	1	hg19	c.3049G>T	CCDS14545.1	1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635813	0.67130	.	.	ENSG00000101890	ENST00000218006	D	0.86497	-2.13	4.24	4.24	0.50183	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	.	13.4908	0.61393	0.0:1.0:0.0:0.0	.	1017	P51841	GUC2F_HUMAN	C	1017	ENSP00000218006:G1017C	ENSP00000218006:G1017C	G	-	1	0	0	GUCY2F	108515075	108515075	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.778000	0.62368	2.350000	0.79820	0.600000	0.82982	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-20.000000	1	0.170000	NM_001522			67	65		285	280	1		1			0	0	86	0		1	0	0	0	0	0	0	67	285
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral component of membrane (GO:0016021)		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547																																						ENST00000372073.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.E193K(1)|p.E232K(1)	large_intestine(2)	14						c.(694-696)Gaa>Aaa		transmembrane protein 164							116.0	88.0	97.0					X																	109416479		2203	4300	6503	SO:0001583	missense	84187	1	121410	30				g.chrX:109416479G>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.694G>A	chrX.hg19:g.109416479G>A	ENSP00000361143:p.Glu232Lys						TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K	p.E232K			0	1	1		Q5U3C3	TM164_HUMAN		7	1030	+			B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	1	1	hg19	c.694G>A	CCDS14550.2	1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	0	TMEM164	109303135	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_032227			84	83		297	293	1		1	1		0	0	91	0		1	1	0	78	0	27	0	84	297
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										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						GACAGACACAGCCTCTGGAGG	0.512																																						ENST00000465301.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1984-1986)Gcc>Tcc		retrotransposon gag domain containing 1							105.0	88.0	94.0					X																	109695829		2203	4300	6503	SO:0001583	missense	57529	0	0					g.chrX:109695829G>T	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.1984G>T	chrX.hg19:g.109695829G>T	ENSP00000419786:p.Ala662Ser						RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	p.A662S	NM_020769.2	NP_065820.1	0	1	1		Q8NET4	RGAG1_HUMAN		3	2230	+			Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	1	1	hg19	c.1984G>T	CCDS14552.1	1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231386	0.09969	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.55052	0.54;0.54	4.21	2.44	0.29823	4.21	2.44	0.29823	.	0.442010	0.16858	N	0.196635	T	0.42607	0.1210	L	0.46157	1.445	0.09310	N	1	B	0.22683	0.073	B	0.30855	0.121	T	0.31475	-0.9942	9	.	.	.	-1.1739	5.4762	0.16697	0.3577:0.0:0.6423:0.0	.	662	Q8NET4	RGAG1_HUMAN	S	662	ENSP00000419786:A662S;ENSP00000441452:A662S	.	A	+	1	0	0	RGAG1	109582485	109582485	0.946000	0.32159	0.009000	0.14445	0.335000	0.28730	1.758000	0.38410	0.544000	0.28883	0.529000	0.55759	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	1	0	1		2	2	2	0		0	0	67		67	65	1	2.060000	-20.000000	1	0.170000	NM_020769			76	74		243	238	1		1	0		0	0	67	0		1	0	0	0	0	1	0	76	243
RGAG1	57529	broad.mit.edu	37	X	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	745										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						TGGAGGGATGCAGATGAATTC	0.527																																						ENST00000465301.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				73						c.(2233-2235)Cag>Tag		retrotransposon gag domain containing 1							155.0	136.0	142.0					X																	109696078		2203	4300	6503	SO:0001587	stop_gained	57529	0	0					g.chrX:109696078C>T	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.2233C>T	chrX.hg19:g.109696078C>T	ENSP00000419786:p.Gln745*						RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	p.Q745*	NM_020769.2	NP_065820.1	0	1	1		Q8NET4	RGAG1_HUMAN		3	2479	+			Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	0	1	hg19	c.2233C>T	CCDS14552.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093506	0.76756	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.15	3.28	0.37604	4.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0686	0.47989	0.0:0.8149:0.1851:0.0	.	.	.	.	X	745	.	.	Q	+	1	0	0	RGAG1	109582734	109582734	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	1.169000	0.31871	1.087000	0.41251	0.600000	0.82982	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_020769			98	97		339	332	0		1			0	0	123	0		1	0	0	0	0	0	0	98	339
ALG13	79868	broad.mit.edu	37	X	110954908	110954908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13_ENST00000251943.4_Silent_p.V176V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	280	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343																																						ENST00000394780.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(838-840)gtG>gtA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							236.0	186.0	201.0					X																	110954908		1568	3582	5150	SO:0001819	synonymous_variant	79868	0	0					g.chrX:110954908G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.840G>A	chrX.hg19:g.110954908G>A							ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.V176V	p.V280V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	0	1	1		Q9NP73	ALG13_HUMAN		6	852	+			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	1	1	hg19	c.840G>A	CCDS55477.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.919025	1	0.170000	NM_018466			34	34		114	113	1		1	0		0	0	40	0		1	7.074188e-01	0	1	0	9	0	34	114
TRPC5	7224	broad.mit.edu	37	X	111090508	111090508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	512					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|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)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGCATGCGTCCCAAAGAG	0.443																																						ENST00000262839.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(1534-1536)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 5							154.0	138.0	143.0					X																	111090508		2203	4300	6503	SO:0001583	missense	7224	2	121410	36				g.chrX:111090508G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1534C>T	chrX.hg19:g.111090508G>A	ENSP00000262839:p.Arg512Cys							p.R512C	NM_012471.2	NP_036603.1	0	1	1		Q9UL62	TRPC5_HUMAN		6	2452	-			B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	1	1	hg19	c.1534C>T	CCDS14561.1	1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429090	0.62844	.	.	ENSG00000072315	ENST00000262839	D	0.98747	-5.11	5.38	5.38	0.77491	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.99537	1.0962	10	0.62326	D	0.03	-12.7276	13.2903	0.60267	0.0:0.0:0.8419:0.1581	.	513;512	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	512	ENSP00000262839:R512C	ENSP00000262839:R512C	R	-	1	0	0	TRPC5	110977164	110977164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.799000	0.55529	2.261000	0.74972	0.436000	0.28706	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	0	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-20.000000	1	0.170000	NM_012471			111	110		387	380	1		1			0	0	129	0		1	0	0	0	0	0	0	111	387
TRPC5	7224	broad.mit.edu	37	X	111097131	111097131	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	368					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|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)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGGCAGATAAACTTGA	0.493																																						ENST00000262839.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999464	0.990000	1.000000																										0				62						c.(1102-1104)atC>atA		transient receptor potential cation channel, subfamily C, member 5							123.0	108.0	113.0					X																	111097131		2203	4300	6503	SO:0001819	synonymous_variant	7224	0	0					g.chrX:111097131G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1104C>A	chrX.hg19:g.111097131G>T								p.I368I	NM_012471.2	NP_036603.1	0	1	1		Q9UL62	TRPC5_HUMAN		4	2022	-			B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	1	1	hg19	c.1104C>A	CCDS14561.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	1	0	0		2	2	2	0		0	0	139		139	137	1	2.060000	-19.656320	1	0.170000	NM_012471			53	53		403	397	1		1			0	0	139	0		1	0	0	0	0	0	0	53	403
ARHGAP6	395	broad.mit.edu	37	X	11157333	11157333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	859					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)			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						CGGCTCTGCAGCCCGGCCACA	0.706																																						ENST00000337414.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999980	0.990000	1.000000																										0				38						c.(2575-2577)Ctg>Atg		Rho GTPase activating protein 6							9.0	9.0	9.0					X																	11157333		2167	4245	6412	SO:0001583	missense	395	0	0					g.chrX:11157333G>T	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.2575C>A	chrX.hg19:g.11157333G>T	ENSP00000338967:p.Leu859Met						ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M	p.L859M	NM_013427.2	NP_038286.2	0	1	1		O43182	RHG06_HUMAN		13	3447	-			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	1	1	hg19	c.2575C>A	CCDS14140.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944809	0.34283	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.24723	1.85;1.85;1.84	5.12	4.24	0.50183	5.12	4.24	0.50183	.	1.112630	0.07024	N	0.827272	T	0.22437	0.0541	L	0.51422	1.61	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.34722	0.188;0.188	T	0.24119	-1.0169	10	0.45353	T	0.12	.	4.1956	0.10441	0.2167:0.0:0.5931:0.1901	.	859;859	O43182;A8KAL3	RHG06_HUMAN;.	M	656;656;859	ENSP00000370112:L656M;ENSP00000302312:L656M;ENSP00000338967:L859M	ENSP00000302312:L656M	L	-	1	2	2	ARHGAP6	11067254	11067254	0.088000	0.21588	0.626000	0.29213	0.025000	0.11179	1.709000	0.37909	2.116000	0.64780	0.594000	0.82650	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.706	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-20.000000	1	0.170000	NM_013427			20	20		71	70	0		1	0		0	0	10	0		9.999979e-01	4.061804e-01	0	1	0	5	0	20	71
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					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.S744S(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						CTTTGGATCCGCTTTTTAATG	0.303													G|||	1	0.000264901	0.0	0.0	3775	,	,		12406	0.0		0.0	False		,,,				2504	0.001					ENST00000337414.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S744S(1)	large_intestine(1)	38						c.(2230-2232)agC>agT		Rho GTPase activating protein 6							104.0	102.0	103.0					X																	11160378		2203	4300	6503	SO:0001819	synonymous_variant	395	9	121412	41				g.chrX:11160378G>A	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.2232C>T	chrX.hg19:g.11160378G>A							ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	p.S744S	NM_013427.2	NP_038286.2	0	1	1		O43182	RHG06_HUMAN		12	3104	-			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	1	1	hg19	c.2232C>T	CCDS14140.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	1		2	2	2	0		0	0	121		121	120	1	2.060000	-3.686805	1	0.170000	NM_013427			76	74		299	297	0		1	0		0	0	121	0		1	7.310164e-01	0	0	0	12	0	76	299
TRPC5	7224	broad.mit.edu	37	X	111155577	111155577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	281					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|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)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTACTTCTGAGGGTCAAGCTC	0.507																																						ENST00000262839.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				62						c.(841-843)cCt>cTt		transient receptor potential cation channel, subfamily C, member 5							214.0	172.0	186.0					X																	111155577		2203	4300	6503	SO:0001583	missense	7224	0	0					g.chrX:111155577G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.842C>T	chrX.hg19:g.111155577G>A	ENSP00000262839:p.Pro281Leu							p.P281L	NM_012471.2	NP_036603.1	0	1	1		Q9UL62	TRPC5_HUMAN		3	1760	-			B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	1	1	hg19	c.842C>T	CCDS14561.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655314	0.47467	.	.	ENSG00000072315	ENST00000262839	T	0.62498	0.02	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.163888	0.53938	D	0.000042	T	0.54791	0.1880	L	0.33339	1.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.45818	-0.9235	10	0.23891	T	0.37	-35.0497	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282;281	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	281	ENSP00000262839:P281L	ENSP00000262839:P281L	P	-	2	0	0	TRPC5	111042233	111042233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.618000	0.88619	0.600000	0.82982	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	1	0	1		2	2	2	0		0	0	182		182	182	1	2.060000	-4.474605	1	0.170000	NM_012471			172	171		567	556	1		1			0	0	182	0		1	0	0	0	0	0	0	172	567
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000524145.1	-	6	1782	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*			Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512																																						ENST00000524145.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1708-1710)Cga>Tga		angiomotin							282.0	234.0	250.0					X																	112048243		2203	4300	6503	SO:0001587	stop_gained	154796	0	0					g.chrX:112048243G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1708C>T	chrX.hg19:g.112048243G>A	ENSP00000429013:p.Arg570*						AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*	p.R570*			0	1	1		Q4VCS5	AMOT_HUMAN		6	1782	-			Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	0	1	hg19	c.1708C>T	CCDS48154.1	1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	2	AMOT	111934899	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	1	0	1		2	2	2	0		0	0	244		244	244	1	2.060000	-20.000000	1	0.170000	NM_133265			246	243		967	939	1		1	1		0	0	244	0		1	7.735151e-01	0	4	0	9	0	246	967
ARHGAP6	395	broad.mit.edu	37	X	11207077	11207077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	283					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)			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						TTGGGATAAGGGCATTCCAAA	0.458																																						ENST00000337414.4	1.000000	0.470000	9.500000e-01	6.000000e-01	0.760000	0.772997	0.760000	1.000000																										0				38						c.(847-849)cCc>cTc		Rho GTPase activating protein 6							81.0	66.0	71.0					X																	11207077		2203	4300	6503	SO:0001583	missense	395	0	0					g.chrX:11207077G>A	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.848C>T	chrX.hg19:g.11207077G>A	ENSP00000338967:p.Pro283Leu						ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L	p.P283L	NM_013427.2	NP_038286.2	0	1	1		O43182	RHG06_HUMAN		4	1720	-			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	1	1	hg19	c.848C>T	CCDS14140.1	0	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370066	0.82573	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.33865	1.42;1.48;1.48;1.45;1.39;1.48;1.59;1.66	5.51	5.51	0.81932	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.53938	D	0.000055	T	0.54447	0.1859	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.987;0.998;0.997;0.999	P;P;D;P;D	0.66847	0.737;0.824;0.941;0.904;0.947	T	0.56269	-0.8007	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	92;80;283;283;283	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	108;80;80;283;119;283;92;315	ENSP00000438135:P108L;ENSP00000370112:P80L;ENSP00000302312:P80L;ENSP00000338967:P283L;ENSP00000370093:P119L;ENSP00000370094:P283L;ENSP00000389394:P92L;ENSP00000370108:P315L	ENSP00000302312:P80L	P	-	2	0	0	ARHGAP6	11116998	11116998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.315000	0.78130	0.600000	0.82982	CCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-19.988290	1	0.170000	NM_013427			18	18		260	259	0		1	0		0	0	45	0		9.999839e-01	4.620814e-01	0	0	0	23	0	18	260
AMOT	154796	broad.mit.edu	37	X	112054512	112054512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000524145.1	-	4	1576	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T			Q4VCS5	AMOT_HUMAN	angiomotin	501					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCCTCCGAATCTCGCCCTC	0.517																																						ENST00000524145.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1501-1503)aTt>aCt		angiomotin							249.0	208.0	222.0					X																	112054512		2203	4300	6503	SO:0001583	missense	154796	0	0					g.chrX:112054512A>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1502T>C	chrX.hg19:g.112054512A>G	ENSP00000429013:p.Ile501Thr						AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T	p.I501T			0	1	1		Q4VCS5	AMOT_HUMAN		4	1576	-			Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	1	1	hg19	c.1502T>C	CCDS48154.1	1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262921	0.59431	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.105412	0.64402	D	0.000003	T	0.42245	0.1194	M	0.79123	2.44	0.50467	D	0.999876	D	0.53151	0.958	P	0.50082	0.63	T	0.46020	-0.9221	10	0.72032	D	0.01	-15.3733	14.3202	0.66482	1.0:0.0:0.0:0.0	.	501	Q4VCS5	AMOT_HUMAN	T	92;501;269;501;269	ENSP00000305557:I92T;ENSP00000361027:I501T;ENSP00000361030:I269T;ENSP00000429013:I501T;ENSP00000361026:I269T	ENSP00000305557:I92T	I	-	2	0	0	AMOT	111941168	111941168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.980000	0.57719	0.486000	0.48141	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	1	0	1		2	2	2	0		0	0	200		200	198	1	2.060000	-20.000000	1	0.170000	NM_133265			180	175		719	703	1		1	0		0	0	200	0		1	4.986301e-01	0	0	0	7	0	180	719
LRCH2	57631	broad.mit.edu	37	X	114404869	114404869	+	Missense_Mutation	SNP	T	T	G	rs374160829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114404869T>G	ENST00000317135.8	-	6	1021	c.991A>C	c.(991-993)Aca>Cca	p.T331P	LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	331										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACCTGTCTGTGAGAGGCTGT	0.333																																						ENST00000317135.8	1.000000	0.890000	1	9.900000e-01	0.990000	0.993664	0.990000	1.000000																										0				19						c.(991-993)Aca>Cca		leucine-rich repeats and calponin homology (CH) domain containing 2							103.0	91.0	95.0					X																	114404869		1893	4100	5993	SO:0001583	missense	57631	0	0					g.chrX:114404869T>G	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.991A>C	chrX.hg19:g.114404869T>G	ENSP00000325091:p.Thr331Pro						LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	p.T331P	NM_020871.3	NP_065922.3	0	1	1		Q5VUJ6	LRCH2_HUMAN		6	1021	-			F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	0	1	hg19	c.991A>C	CCDS48155.1	1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693341	0.68386	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00902	5.6;5.56	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.966	T	0.64407	-0.6415	10	0.27082	T	0.32	-13.9619	13.7074	0.62648	0.0:0.0:0.0:1.0	.	331;331	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	331	ENSP00000325091:T331P;ENSP00000439366:T331P	ENSP00000325091:T331P	T	-	1	0	0	LRCH2	114311125	114311125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.662000	0.83803	1.917000	0.55516	0.481000	0.45027	ACA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-3.703807	1	0.170000	NM_020871			8	8		37	37	1		1	0		0	0	11	0		9.916517e-01	5.761089e-01	0	0	0	10	0	8	37
DOCK11	139818	broad.mit.edu	37	X	117676803	117676803	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276202.7	+	2	281	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DOCK11_ENST00000276204.6_Splice_Site_p.S73Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	73	Interaction with activated CDC42. {ECO:0000250}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						GAAGATATATCTGTGAGTTCA	0.403																																						ENST00000276202.7	0.720000	0.360000	6.300000e-01	4.400000e-01	0.520000	0.540766	0.520000	0.520000																										0				84						c.(217-219)tCt>tAt		dedicator of cytokinesis 11							127.0	125.0	126.0					X																	117676803		2203	4300	6503	SO:0001630	splice_region_variant	139818	0	0					g.chrX:117676803C>A	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.219+1C>A	chrX.hg19:g.117676803C>A							DOCK11_ENST00000276204.6_Splice_Site_p.S73Y	p.S73Y	NM_144658.3	NP_653259.3	0	1	1		Q5JSL3	DOC11_HUMAN		2	281	+			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	1	0	hg19	c.218C>A	CCDS35373.1	0	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708339	0.68615	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.46063	0.88;0.88	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.202957	0.44285	D	0.000473	T	0.46698	0.1406	M	0.69358	2.11	0.46260	D	0.998954	P	0.37636	0.603	B	0.42593	0.392	T	0.52056	-0.8626	10	0.87932	D	0	-31.1697	10.5212	0.44920	0.0:0.9077:0.0:0.0923	.	73	Q5JSL3	DOC11_HUMAN	Y	73	ENSP00000276204:S73Y;ENSP00000276202:S73Y	ENSP00000276202:S73Y	S	+	2	0	0	DOCK11	117560831	117560831	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.953000	0.49105	2.235000	0.73313	0.590000	0.80494	TCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	1	0	1		2	2	2	0		0	0	146		146	145	1	2.060000	-4.621396	1	0.170000	NM_144658	Missense_Mutation		32	32		679	669	0		1	0		0	0	146	0		1	1.205120e-01	0	0	0	13	0	32	679
LONRF3	79836	broad.mit.edu	37	X	118112410	118112410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000371628.3	+	2	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	307							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			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						TGTAAGCTCCGCCCGATGGGT	0.498																																						ENST00000371628.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(919-921)cGc>cAc		LON peptidase N-terminal domain and ring finger 3							121.0	107.0	112.0					X																	118112410		2203	4300	6503	SO:0001583	missense	79836	2	121410	34				g.chrX:118112410G>A	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.920G>A	chrX.hg19:g.118112410G>A	ENSP00000360690:p.Arg307His						LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_5'UTR	p.R307H	NM_001031855.1	NP_001027026.1	0	1	1		Q496Y0	LONF3_HUMAN		2	951	+			Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	1	1	hg19	c.920G>A	CCDS35374.1	1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652612	0.67472	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.60171	0.21;0.21;0.21	5.46	4.41	0.53225	5.46	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.369547	0.26812	N	0.022377	T	0.52645	0.1747	L	0.29908	0.895	0.80722	D	1	D;D	0.55605	0.964;0.972	P;P	0.53954	0.666;0.738	T	0.54879	-0.8227	10	0.59425	D	0.04	-3.9659	6.1812	0.20472	0.2769:0.0:0.7231:0.0	.	307;307	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	H	307	ENSP00000360691:R307H;ENSP00000307732:R307H;ENSP00000360690:R307H	ENSP00000307732:R307H	R	+	2	0	0	LONRF3	117996438	117996438	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.323000	0.52014	2.301000	0.77427	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	1	0	1		2	2	2	0		0	0	87		87	87	1	2.060000	-20.000000	1	0.170000	NM_024778			63	62		265	257	1		1	1		0	0	87	0		1	9.779574e-01	0	23	0	5	0	63	265
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										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						TAAATCAAAGCTGAAAGCTTC	0.428																																						ENST00000402510.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2125-2127)aGc>aTc		KIAA1210							43.0	42.0	43.0					X																	118223067		1909	4130	6039	SO:0001583	missense	57481	0	0					g.chrX:118223067C>A	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.2126G>T	chrX.hg19:g.118223067C>A	ENSP00000384670:p.Ser709Ile							p.S709I	NM_020721.1	NP_065772.1	0	1	1		Q9ULL0	K1210_HUMAN		11	2125	-			B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	1	1	hg19	c.2126G>T	CCDS48156.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565356|2.565356	0.45694|0.45694	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	4.44|4.44	3.57|3.57	0.40892|0.40892	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.56035	.|0.974	.|P	.|0.50270	.|0.636	T|T	0.07731|0.07731	-1.0757|-1.0757	5|9	.|0.72032	.|D	.|0.01	.|.	8.7899|8.7899	0.34843|0.34843	0.2236:0.7764:0.0:0.0|0.2236:0.7764:0.0:0.0	.|.	.|709	.|Q9ULL0	.|K1210_HUMAN	H|I	115|709	.|ENSP00000384670:S709I	.|ENSP00000384670:S709I	Q|S	-|-	3|2	2|0	2|0	KIAA1210|RP13-347D8.6	118107095|118107095	118107095|118107095	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.029000|0.029000	0.11900|0.11900	-0.033000|-0.033000	0.12246|0.12246	1.205000|1.205000	0.43262|0.43262	0.506000|0.506000	0.49869|0.49869	CAG|AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_020721			54	54		176	175	1		1			0	0	58	0		1	0	0	0	0	0	0	54	176
KIAA1210	57481	broad.mit.edu	37	X	118239009	118239009	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	338										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						GATTCTTAGGTGACTCATCAT	0.463																																						ENST00000402510.2	0.530000	0.240000	4.500000e-01	2.900000e-01	0.360000	0.379533	0.360000	0.360000																										0				64						c.(1012-1014)tcA>tcG		KIAA1210							150.0	144.0	146.0					X																	118239009		1908	4127	6035	SO:0001819	synonymous_variant	57481	0	0					g.chrX:118239009T>C	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.1014A>G	chrX.hg19:g.118239009T>C								p.S338S	NM_020721.1	NP_065772.1	0	1	1		Q9ULL0	K1210_HUMAN		7	1013	-			B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	1	1	hg19	c.1014A>G	CCDS48156.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	0	0	1		2	2	2	0		0	0	184		184	183	1	2.060000	-3.653864	1	0.170000	NM_020721			24	24		744	733	0		1			0	0	184	0		9.999996e-01	0	0	0	0	0	0	24	744
NKRF	55922	broad.mit.edu	37	X	118724025	118724025	+	Silent	SNP	G	G	A	rs192991563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000304449.5_Silent_p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	455					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428													G|||	1	0.000264901	0.0	0.0	3775	,	,		15502	0.0		0.001	False		,,,				2504	0.0					ENST00000371527.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1363-1365)Ctg>Ttg		NFKB repressing factor							104.0	97.0	99.0					X																	118724025		2203	4300	6503	SO:0001819	synonymous_variant	55922	2	121408	31				g.chrX:118724025G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1363C>T	chrX.hg19:g.118724025G>A							NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.L455L	p.L455L	NM_001173488.1	NP_001166959.1	0	1	1		O15226	NKRF_HUMAN		2	2015	-			G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	1	1	hg19	c.1363C>T	CCDS35375.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	NM_017544			137	131		355	349	1		1	1		0	0	123	0		1	9.999966e-01	0	35	0	15	0	137	355
NKRF	55922	broad.mit.edu	37	X	118724252	118724252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	379					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAAAAACACTCGACAACGCCA	0.383																																						ENST00000371527.1	0.590000	0.240000	4.900000e-01	3.100000e-01	0.390000	0.409243	0.390000	0.390000																										0				30						c.(1135-1137)cGa>cAa		NFKB repressing factor							109.0	99.0	102.0					X																	118724252		2203	4300	6503	SO:0001583	missense	55922	0	0					g.chrX:118724252C>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1136G>A	chrX.hg19:g.118724252C>T	ENSP00000360582:p.Arg379Gln						NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	p.R379Q	NM_001173488.1	NP_001166959.1	0	1	1		O15226	NKRF_HUMAN		2	1788	-			G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	1	1	hg19	c.1136G>A	CCDS35375.1	0	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642932	0.14451	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.98012	-4.66;-4.66;-4.66	5.85	1.13	0.20643	5.85	1.13	0.20643	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.290936	0.36740	N	0.002436	D	0.91178	0.7221	N	0.08118	0	0.26124	N	0.980517	B	0.12013	0.005	B	0.04013	0.001	T	0.81493	-0.0908	10	0.19147	T	0.46	-1.4355	10.8277	0.46643	0.0:0.5473:0.0:0.4527	.	379	O15226	NKRF_HUMAN	Q	379;379;394	ENSP00000360582:R379Q;ENSP00000304803:R379Q;ENSP00000442308:R394Q	ENSP00000304803:R379Q	R	-	2	0	0	NKRF	118608280	118608280	0.262000	0.24073	0.982000	0.44146	0.998000	0.95712	0.814000	0.27239	0.141000	0.18875	0.600000	0.82982	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	0	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-2.953916	1	0.170000	NM_017544			19	19		549	537	0		1	1		0	0	126	0		9.999888e-01	3.343119e-01	0	2	0	32	0	19	549
UPF3B	65109	broad.mit.edu	37	X	118972012	118972012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTCATCTTCAGGTCTGCATGA	0.473																																						ENST00000276201.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.998776	0.990000	1.000000																										0				30						c.(1009-1011)cCt>cAt		UPF3 regulator of nonsense transcripts homolog B (yeast)							101.0	91.0	94.0					X																	118972012		2203	4299	6502	SO:0001583	missense	65109	0	0					g.chrX:118972012G>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1010C>A	chrX.hg19:g.118972012G>T	ENSP00000276201:p.Pro337His						UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H|UPF3B_ENST00000478840.1_5'Flank	p.P337H	NM_080632.2	NP_542199.1	0	1	1		Q9BZI7	REN3B_HUMAN		10	1079	-			D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	1	1	hg19	c.1010C>A	CCDS14588.1	1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562328	0.13498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77098	-1.06;-1.07	5.68	1.5	0.22942	5.68	1.5	0.22942	.	1.350910	0.04170	N	0.324587	T	0.73651	0.3614	L	0.54323	1.7	0.09310	N	1	B;B	0.28584	0.216;0.042	B;B	0.30572	0.117;0.054	T	0.56703	-0.7935	10	0.62326	D	0.03	.	4.7105	0.12870	0.3564:0.0:0.5039:0.1397	.	324;337	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	337;324	ENSP00000276201:P337H;ENSP00000245418:P324H	ENSP00000276201:P337H	P	-	2	0	0	UPF3B	118856040	118856040	0.010000	0.17322	0.005000	0.12908	0.050000	0.14768	0.624000	0.24462	-0.143000	0.11334	-0.212000	0.12691	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-3.142702	1	0.170000				65	64		538	523	1		1	1		0	0	128	0		1	9.980030e-01	0	22	0	56	0	65	538
AKAP14	158798	broad.mit.edu	37	X	119054470	119054470	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site|RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000371425.4_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14						spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333																																						ENST00000371431.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.e7-1		A kinase (PRKA) anchor protein 14							113.0	90.0	98.0					X																	119054470		2203	4300	6503	SO:0001630	splice_region_variant	158798	0	0					g.chrX:119054470G>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.495-1G>T	chrX.hg19:g.119054470G>T							AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371425.4_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|RP3-327A19.5_ENST00000455986.1_RNA		NM_178813.5	NP_848928.1	0	1	1		Q86UN6	AKA28_HUMAN		7	768	+			A6NNZ0|Q86UN4|Q86UN5	Splice_Site	SNP	ENST00000371431.3	1	1	hg19		CCDS14591.1	1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975120	0.18736	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8915	0.79303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	AKAP14	118938498	118938498	1.000000	0.71417	0.975000	0.42487	0.075000	0.17131	5.568000	0.67385	2.136000	0.66102	0.513000	0.50165	.	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_178813	Intron		44	45		181	176	1		1			0	0	55	0		1	0	0	0	0	0	0	44	181
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737C>T	c.(736-738)tCg>tTg	p.S246L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289													G|||	1	0.000264901	0.0	0.0	3775	,	,		9427	0.0		0.0	False		,,,				2504	0.001					ENST00000371410.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(736-738)tCg>tTg		NFKB activating protein							64.0	64.0	64.0					X																	119068457		2203	4285	6488	SO:0001630	splice_region_variant	79576	3	121324	35				g.chrX:119068457G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.737+1C>T	chrX.hg19:g.119068457G>A							NKAP_ENST00000477789.1_5'UTR	p.S246L	NM_024528.3	NP_078804.2	0	1	1		Q8N5F7	NKAP_HUMAN		5	903	-			Q6IPW6|Q96BQ2|Q9H638	Splice_Site	SNP	ENST00000371410.3	1	0	hg19	c.737C>T	CCDS14592.1	1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035889	0.07497	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	3.87	1.96	0.26148	3.87	1.96	0.26148	.	1.093730	0.06943	N	0.813167	T	0.09423	0.0232	N	0.19112	0.55	0.26990	N	0.965166	B;P	0.35700	0.043;0.516	B;B	0.22601	0.008;0.04	T	0.32455	-0.9906	9	.	.	.	0.1973	8.1561	0.31169	0.0:0.3212:0.5201:0.1587	.	246;246	Q8N5F7;A0PJ73	NKAP_HUMAN;.	L	246	ENSP00000360464:S246L	.	S	-	2	0	0	NKAP	118952485	118952485	1.000000	0.71417	0.386000	0.26170	0.002000	0.02628	1.463000	0.35277	0.224000	0.20940	-0.322000	0.08575	TCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.289	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-3.442495	1	0.170000	NM_024528	Missense_Mutation		63	57		279	267	0		1	1		0	0	61	0		1	9.999944e-01	0	21	0	60	0	63	279
NKAP	79576	broad.mit.edu	37	X	119070262	119070262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	224	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTTACCACTGGAGTCTGT	0.348																																						ENST00000371410.3	0.640000	0.240000	5.300000e-01	3.200000e-01	0.410000	0.433878	0.410000	0.410000																										0				20						c.(670-672)aGt>aAt		NFKB activating protein							178.0	150.0	159.0					X																	119070262		2203	4300	6503	SO:0001583	missense	79576	0	0					g.chrX:119070262C>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.671G>A	chrX.hg19:g.119070262C>T	ENSP00000360464:p.Ser224Asn						NKAP_ENST00000477789.1_5'UTR	p.S224N	NM_024528.3	NP_078804.2	0	1	1		Q8N5F7	NKAP_HUMAN		4	837	-			Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	1	1	hg19	c.671G>A	CCDS14592.1	0	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268188	0.23136	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	5.02	4.13	0.48395	5.02	4.13	0.48395	.	0.323216	0.35772	N	0.002996	T	0.19485	0.0468	L	0.33245	0.995	0.38041	D	0.935452	P;P	0.51791	0.948;0.939	P;P	0.52598	0.508;0.703	T	0.02933	-1.1092	10	0.28530	T	0.3	-6.188	10.8319	0.46665	0.0:0.9031:0.0:0.0969	.	224;224	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	224	ENSP00000360464:S224N	ENSP00000360464:S224N	S	-	2	0	0	NKAP	118954290	118954290	1.000000	0.71417	0.679000	0.29978	0.969000	0.65631	2.600000	0.46240	2.225000	0.72522	0.594000	0.82650	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	0	0	0		2	2	2	0		0	0	128		128	128	1	2.060000	-3.641039	1	0.170000	NM_024528			16	15		438	430	0		1	1		0	0	128	0		9.999242e-01	9.559532e-01	0	12	0	133	0	16	438
CUL4B	8450	broad.mit.edu	37	X	119668403	119668403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000404115.3	-	19	2654	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					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)				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						TTAGCAGCACCAGTGTTTGAA	0.348																																						ENST00000404115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(2251-2253)ctG>ctA		cullin 4B							161.0	151.0	154.0					X																	119668403		2203	4300	6503	SO:0001819	synonymous_variant	8450	0	0					g.chrX:119668403C>T	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.2253G>A	chrX.hg19:g.119668403C>T							CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	p.L751L	NM_003588.3	NP_003579.3	0	1	1		Q13620	CUL4B_HUMAN		19	2654	-			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	1	1	hg19	c.2253G>A	CCDS35379.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	1	0	1		2	2	2	0		0	0	192		192	192	1	2.060000	-2.926516	1	0.170000	NM_003588			132	132		567	561	1		1	1		0	0	192	0		1	1	0	58	0	70	0	132	567
CUL4B	8450	broad.mit.edu	37	X	119668405	119668405	+	Silent	SNP	G	G	A	rs202209674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000404115.3	-	19	2652	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					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)				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						AGCAGCACCAGTGTTTGAAAA	0.343																																						ENST00000404115.3	0.560000	0.250000	4.800000e-01	3.100000e-01	0.390000	0.401672	0.390000	0.380000																										0				36						c.(2251-2253)Ctg>Ttg		cullin 4B							157.0	148.0	151.0					X																	119668405		2203	4300	6503	SO:0001819	synonymous_variant	8450	0	0					g.chrX:119668405G>A	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.2251C>T	chrX.hg19:g.119668405G>A							CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	p.L751L	NM_003588.3	NP_003579.3	0	1	1		Q13620	CUL4B_HUMAN		19	2652	-			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	1	1	hg19	c.2251C>T	CCDS35379.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	0	0	1		2	2	2	0		0	0	189		189	189	1	2.060000	-3.578757	1	0.170000	NM_003588			23	23		673	666	0		1	1		0	0	189	0		9.999993e-01	9.243601e-01	0	11	0	119	0	23	673
CUL4B	8450	broad.mit.edu	37	X	119674407	119674407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000404115.3	-	13	1909	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I|CUL4B_ENST00000371322.5_Missense_Mutation_p.S485I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	503					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)				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						TACAATAGTGCTGCCAAATGC	0.294																																						ENST00000404115.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(1507-1509)aGc>aTc		cullin 4B							52.0	48.0	49.0					X																	119674407		2201	4294	6495	SO:0001583	missense	8450	0	0					g.chrX:119674407C>A	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.1508G>T	chrX.hg19:g.119674407C>A	ENSP00000384109:p.Ser503Ile						CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I|CUL4B_ENST00000371322.5_Missense_Mutation_p.S485I	p.S503I	NM_003588.3	NP_003579.3	0	1	1		Q13620	CUL4B_HUMAN		13	1909	-			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	1	1	hg19	c.1508G>T	CCDS35379.1	1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742296	0.15642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73575	-0.76;-0.76;-0.76	5.42	4.55	0.56014	5.42	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.33710	1.025	0.80722	D	1	B;P;P	0.35684	0.004;0.515;0.459	B;B;B	0.37015	0.015;0.239;0.154	T	0.60642	-0.7223	9	.	.	.	-10.2043	14.4351	0.67274	0.0:0.8559:0.1441:0.0	.	307;503;485	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	485;490;503	ENSP00000360373:S485I;ENSP00000338919:S490I;ENSP00000384109:S503I	.	S	-	2	0	0	CUL4B	119558435	119558435	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	5.954000	0.70298	1.055000	0.40461	-0.346000	0.07831	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.294	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	1	0	1		2	2	2	0		0	0	35		35	35	1	2.060000	-20.000000	1	0.170000	NM_003588			37	37		133	132	1		1	1		0	0	35	0		1	1	0	61	0	63	0	37	133
GLUD2	2747	broad.mit.edu	37	X	120182660	120182660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	374					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCTTGGAGGTCGACTGTGACA	0.502																																						ENST00000328078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1120-1122)gtC>gtT		glutamate dehydrogenase 2							193.0	171.0	179.0					X																	120182660		2203	4300	6503	SO:0001819	synonymous_variant	2747	0	0					g.chrX:120182660C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1122C>T	chrX.hg19:g.120182660C>T								p.V374V	NM_012084.3	NP_036216.2	0	1	1		P49448	DHE4_HUMAN		1	1199	+			B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	1	1	hg19	c.1122C>T	CCDS14603.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	0	0	1		2	2	2	0		0	0	220		220	220	1	2.060000	-20.000000	1	0.170000	NM_012084			203	199		629	620	1		1	1		0	0	220	0		1	6.182494e-01	0	7	0	1	0	203	629
GLUD2	2747	broad.mit.edu	37	X	120182956	120182956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	473					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTTCAAGAGAGTTTAGAAAGA	0.418																																						ENST00000328078.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1417-1419)aGt>aAt		glutamate dehydrogenase 2							155.0	137.0	143.0					X																	120182956		2203	4300	6503	SO:0001583	missense	2747	0	0					g.chrX:120182956G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1418G>A	chrX.hg19:g.120182956G>A	ENSP00000327589:p.Ser473Asn							p.S473N	NM_012084.3	NP_036216.2	0	1	1		P49448	DHE4_HUMAN		1	1495	+			B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	1	1	hg19	c.1418G>A	CCDS14603.1	1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207067	0.58343	.	.	ENSG00000182890	ENST00000328078	D	0.96651	-4.08	2.05	2.05	0.26809	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.96868	0.9637	10	0.62326	D	0.03	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	473	P49448	DHE4_HUMAN	N	473	ENSP00000327589:S473N	ENSP00000327589:S473N	S	+	2	0	0	GLUD2	120010637	120010637	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.189000	0.72051	1.080000	0.41073	0.406000	0.27484	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	1	0	1		2	2	2	0		0	0	142		142	144	1	2.060000	-20.000000	1	0.170000	NM_012084			138	134		455	449	1		1	1		0	0	142	0		1	1.387058e-01	0	3	0	0	0	138	455
THOC2	57187	broad.mit.edu	37	X	122755365	122755365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	ENST00000245838.8	-	31	3890	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1287	Lys-rich.				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)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGAGTAGTAGCTGGAGtcttt	0.358																																						ENST00000245838.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3859-3861)Gct>Tct		THO complex 2							117.0	100.0	105.0					X																	122755365		1808	4064	5872	SO:0001583	missense	57187	0	0					g.chrX:122755365C>A	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.3859G>T	chrX.hg19:g.122755365C>A	ENSP00000245838:p.Ala1287Ser						THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S|THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S	p.A1287S	NM_001081550.1	NP_001075019.1	0	1	1		Q8NI27	THOC2_HUMAN		31	3890	-			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	1	1	hg19	c.3859G>T	CCDS43988.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311160|1.311160	0.23821|0.23821	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000441692	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.05|5.05	3.29|3.29	0.37713|0.37713	5.05|5.05	3.29|3.29	0.37713|0.37713	.|.	0.182458|.	0.37437|.	N|.	0.002099|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.17082|0.17082	0.46|0.46	0.39160|0.39160	D|D	0.962395|0.962395	B|.	0.20368|.	0.044|.	B|.	0.19148|.	0.024|.	T|T	0.13737|0.13737	-1.0498|-1.0498	10|5	0.02654|.	T|.	1|.	-2.7332|-2.7332	9.2462|9.2462	0.37527|0.37527	0.0:0.7591:0.0:0.2409|0.0:0.7591:0.0:0.2409	.|.	1287|.	Q8NI27|.	THOC2_HUMAN|.	S|H	1287;1287;1172|54	ENSP00000245838:A1287S;ENSP00000347959:A1287S;ENSP00000419795:A1172S|.	ENSP00000245838:A1287S|.	A|Q	-|-	1|3	0|2	0|2	THOC2|THOC2	122583046|122583046	122583046|122583046	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.594000|4.594000	0.61041|0.61041	0.479000|0.479000	0.27511|0.27511	0.600000|0.600000	0.82982|0.82982	GCT|CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000				118	116		343	333	0		1	1		0	0	92	0		1	1	0	61	0	45	0	118	343
THOC2	57187	broad.mit.edu	37	X	122829989	122829989	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000355725.4_Silent_p.K161K|THOC2_ENST00000491737.1_Silent_p.K46K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	161					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)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACAAATTGAATTTTTGCTGCT	0.299																																						ENST00000245838.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				63						c.(481-483)aaA>aaG		THO complex 2							58.0	51.0	53.0					X																	122829989		1805	4050	5855	SO:0001819	synonymous_variant	57187	0	0					g.chrX:122829989T>C	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.483A>G	chrX.hg19:g.122829989T>C							THOC2_ENST00000491737.1_Silent_p.K46K|THOC2_ENST00000355725.4_Silent_p.K161K	p.K161K	NM_001081550.1	NP_001075019.1	0	1	1		Q8NI27	THOC2_HUMAN		7	514	-			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	1	1	hg19	c.483A>G	CCDS43988.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000				46	45		129	128	1		1	1		0	0	73	0		1	9.998957e-01	0	28	0	15	0	46	129
DCAF12L2	340578	broad.mit.edu	37	X	125299095	125299095	+	Silent	SNP	G	G	A	rs376171077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000360028.2	-	1	839	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000538699.1_Silent_p.S271S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	271										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						GGTTCTTGCCGCTGAAGGCCA	0.637																																						ENST00000360028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(811-813)agC>agT		DDB1 and CUL4 associated factor 12-like 2		G		1,3834		0,1,1631,571	47.0	51.0	49.0		813	-3.0	0.4	X		49	0,6728		0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		271/464	125299095	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	340578	1	121408	31				g.chrX:125299095G>A	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.813C>T	chrX.hg19:g.125299095G>A							DCAF12L2_ENST00000538699.1_Silent_p.S271S	p.S271S			0	1	1		Q5VW00	DC122_HUMAN		1	839	-			B2RN42	Silent	SNP	ENST00000360028.2	1	1	hg19	c.813C>T	CCDS43991.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	0		2	2	2	0		0	0	82		82	82	1	2.060000	-4.253434	1	0.170000	NM_001013628			84	83		291	285	0		1	0		0	0	82	0		1	0	0	0	0	1	0	84	291
FRMPD4	9758	broad.mit.edu	37	X	12725605	12725605	+	Silent	SNP	G	G	A	rs548107853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12725605G>A	ENST00000380682.1	+	13	1811	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	435	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)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAGCGCTCGGAAGTGACTC	0.443																																						ENST00000380682.1	0.570000	0.210000	4.700000e-01	2.800000e-01	0.360000	0.381849	0.360000	0.360000																										0				22						c.(1303-1305)tcG>tcA		FERM and PDZ domain containing 4							95.0	94.0	94.0					X																	12725605		2203	4300	6503	SO:0001819	synonymous_variant	9758	1	121412	35				g.chrX:12725605G>A	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.1305G>A	chrX.hg19:g.12725605G>A								p.S435S	NM_014728.3	NP_055543.2	0	1	1		Q14CM0	FRPD4_HUMAN		13	1811	+			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	1	1	hg19	c.1305G>A	CCDS35201.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	0	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-2.539047	1	0.170000	XM_045712			15	14		471	465	0		1	0		0	0	128	0		9.998606e-01	0	0	0	0	1	0	15	471
FRMPD4	9758	broad.mit.edu	37	X	12735057	12735057	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	827					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGAGCCAGGCAGCTTCCTT	0.562																																						ENST00000380682.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2479-2481)Gca>Aca		FERM and PDZ domain containing 4							105.0	86.0	92.0					X																	12735057		2203	4300	6503	SO:0001583	missense	9758	0	0					g.chrX:12735057G>A	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.2479G>A	chrX.hg19:g.12735057G>A	ENSP00000370057:p.Ala827Thr							p.A827T	NM_014728.3	NP_055543.2	0	1	1		Q14CM0	FRPD4_HUMAN		15	2985	+			A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	1	1	hg19	c.2479G>A	CCDS35201.1	1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751744	0.31046	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	4.38	0.52667	5.26	4.38	0.52667	.	0.390669	0.26769	N	0.022586	T	0.22437	0.0541	L	0.40543	1.245	0.29218	N	0.874119	B;B	0.18863	0.031;0.031	B;B	0.15870	0.014;0.01	T	0.06734	-1.0810	10	0.44086	T	0.13	.	6.6097	0.22745	0.1509:0.0:0.6928:0.1562	.	819;827	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	827;818;816	ENSP00000370057:A827T	ENSP00000304583:A816T	A	+	1	0	0	FRMPD4	12644978	12644978	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	2.658000	0.46733	2.334000	0.79466	0.600000	0.82982	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-20.000000	1	0.170000	XM_045712			105	103		326	320	1		1			0	0	123	0		1	0	0	0	0	0	0	105	326
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000360028.2	-	1	832	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										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						GCCGCTGAAGGCCAGGGCCCG	0.637																																						ENST00000360028.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				64						c.(805-807)gCc>gTc		DDB1 and CUL4 associated factor 12-like 2							44.0	48.0	47.0					X																	125299102		2203	4300	6503	SO:0001583	missense	340578	0	0					g.chrX:125299102G>A	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.806C>T	chrX.hg19:g.125299102G>A	ENSP00000353128:p.Ala269Val						DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V	p.A269V			0	1	1		Q5VW00	DC122_HUMAN		1	832	-			B2RN42	Missense_Mutation	SNP	ENST00000360028.2	1	1	hg19	c.806C>T	CCDS43991.1	1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666061	0.67700	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	3.72	2.81	0.32909	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.76026	0.3930	M	0.66939	2.045	0.35993	D	0.836822	D	0.89917	1.0	D	0.83275	0.996	T	0.78768	-0.2075	10	0.51188	T	0.08	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	V	269	ENSP00000441489:A269V;ENSP00000353128:A269V	ENSP00000353128:A269V	A	-	2	0	0	DCAF12L2	125126783	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	0		2	2	2	0		0	0	79		79	79	1	2.060000	-20.000000	1	0.170000	NM_001013628			80	78		286	282	1		1	0		0	0	79	0		1	0	0	0	0	1	0	80	286
SMARCA1	6594	broad.mit.edu	37	X	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1037					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)			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						TTCTTCTTTTCTGCTCTCTCT	0.313																																						ENST00000371122.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				45						c.(3109-3111)Gaa>Taa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							145.0	134.0	138.0					X																	128582342		2203	4297	6500	SO:0001587	stop_gained	6594	0	0					g.chrX:128582342C>A	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.3109G>T	chrX.hg19:g.128582342C>A	ENSP00000360163:p.Glu1037*						SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	p.E1037*	NM_003069.3	NP_003060.2	0	1	1		P28370	SMCA1_HUMAN		24	3238	-			Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	0	1	hg19	c.3109G>T	CCDS14612.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.403897	0.98262	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.9902	19.3889	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1025;1037	.	ENSP00000360162:E1025X	E	-	1	0	0	SMARCA1	128410023	128410023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.618000	0.88619	0.600000	0.82982	GAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	1	0	1		2	2	2	0		0	0	82		82	81	1	2.060000	-20.000000	1	0.170000	NM_003069			82	82		268	261	1		1	0		0	0	82	0		1	1	0	1	0	128	0	82	268
OCRL	4952	broad.mit.edu	37	X	128691392	128691392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	110	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463																																						ENST00000371113.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(328-330)gCt>gTt		oculocerebrorenal syndrome of Lowe							87.0	78.0	81.0					X																	128691392		2203	4300	6503	SO:0001583	missense	4952	0	0					g.chrX:128691392C>T	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.329C>T	chrX.hg19:g.128691392C>T	ENSP00000360154:p.Ala110Val						OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	p.A110V	NM_000276.3	NP_000267.2	0	1	1		Q01968	OCRL_HUMAN		5	494	+			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	1	1	hg19	c.329C>T	CCDS35393.1	1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949666	0.53186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94138	-3.36;-3.36	5.32	4.14	0.48551	5.32	4.14	0.48551	.	0.616585	0.17225	N	0.182195	D	0.85089	0.5617	N	0.08118	0	0.25635	N	0.986265	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.76310	-0.3006	10	0.87932	D	0	.	10.5884	0.45296	0.8376:0.1624:0.0:0.0	.	110;110	Q01968-2;Q01968	.;OCRL_HUMAN	V	110	ENSP00000360154:A110V;ENSP00000349635:A110V	ENSP00000349635:A110V	A	+	2	0	0	OCRL	128519073	128519073	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	4.413000	0.59795	0.667000	0.31107	-0.328000	0.08392	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000	NM_000276			35	35		124	123	1		1	1		0	0	49	0		1	9.703886e-01	0	9	0	14	0	35	124
XPNPEP2	7512	broad.mit.edu	37	X	128880624	128880624	+	Missense_Mutation	SNP	C	C	T	rs199567476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128880624C>T	ENST00000371106.3	+	6	649	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	153						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGAGGGCGTGTGGGTTT	0.522																																						ENST00000371106.3	0.370000	0.130000	3.100000e-01	1.800000e-01	0.230000	0.247363	0.230000	0.240000																										0				37						c.(457-459)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							270.0	243.0	252.0					X																	128880624		2203	4299	6502	SO:0001583	missense	7512	0	0					g.chrX:128880624C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.457C>T	chrX.hg19:g.128880624C>T	ENSP00000360147:p.Arg153Cys						XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	p.R153C	NM_003399.5	NP_003390.4	0	1	1		O43895	XPP2_HUMAN		6	649	+			A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	0	1	hg19	c.457C>T	CCDS14613.1	0	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464311	0.43736	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.75938	-0.98	5.57	-1.49	0.08718	5.57	-1.49	0.08718	Creatinase (1);	1.196100	0.05649	N	0.584917	T	0.72898	0.3518	L	0.46947	1.48	0.09310	N	1	P;D	0.62365	0.883;0.991	B;P	0.54100	0.209;0.742	T	0.60393	-0.7272	10	0.52906	T	0.07	-10.3433	3.1445	0.06467	0.3281:0.4451:0.1041:0.1227	.	153;153	B4DV70;O43895	.;XPP2_HUMAN	C	153	ENSP00000360147:R153C	ENSP00000360146:R153C	R	+	1	0	0	XPNPEP2	128708305	128708305	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.091000	0.11146	-0.347000	0.08299	-1.916000	0.00518	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	0	0	1		2	2	2	0		0	0	184		184	183	1	2.060000	-2.691101	1	0.170000	NM_003399			15	15		739	717	0		1			0	0	184	0		9.998385e-01	0	0	0	0	0	0	15	739
UTP14A	10813	broad.mit.edu	37	X	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T|UTP14A_ENST00000425117.2_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	138					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498																																						ENST00000394422.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(412-414)Gca>Aca		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)		T	,THR/ALA	0,3835		0,0,1632,571	133.0	125.0	127.0		,412	2.9	0.5	X	dbSNP_134	127	1,6727		0,1,2427,1872	no	intron,missense	UTP14A	NM_001166221.1,NM_006649.3	,58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,benign	,138/772	129045772	1,10562	2203	4300	6503	SO:0001583	missense	10813	4	121410	39				g.chrX:129045772G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.412G>A	chrX.hg19:g.129045772G>A	ENSP00000377944:p.Ala138Thr						RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T	p.A138T	NM_006649.3	NP_006640.2	0	1	1		Q9BVJ6	UT14A_HUMAN		6	440	+			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	1	1	hg19	c.412G>A	CCDS14615.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304624	0.23736	0.0	1.49E-4	ENSG00000156697	ENST00000394422;ENST00000371051	T;T	0.16743	2.32;2.32	5.43	2.94	0.34122	5.43	2.94	0.34122	.	0.228441	0.45361	N	0.000376	T	0.07908	0.0198	N	0.05230	-0.09	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.006	T	0.22765	-1.0207	10	0.46703	T	0.11	-1.01	7.5144	0.27592	0.1322:0.0:0.2762:0.5917	.	84;138	F8WD00;Q9BVJ6	.;UT14A_HUMAN	T	138;84	ENSP00000377944:A138T;ENSP00000360090:A84T	ENSP00000360090:A84T	A	+	1	0	0	UTP14A	128873453	128873453	0.735000	0.28153	0.456000	0.27044	0.158000	0.22134	0.575000	0.23729	0.202000	0.20498	-0.825000	0.03093	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	0	0	1		15	3	2	1		1	1	196		196	194	1	2.060000	-5.708893	1	0.170000	NM_006649			185	183		584	576	1		1	1		1	0	196	0		1	9.999999e-01	0	61	0	22	0	185	584
UTP14A	10813	broad.mit.edu	37	X	129060260	129060260	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	663					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(1987-1989)aAt>aGt		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							80.0	77.0	78.0					X																	129060260		2203	4300	6503	SO:0001583	missense	10813	0	0					g.chrX:129060260A>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1988A>G	chrX.hg19:g.129060260A>G	ENSP00000377944:p.Asn663Ser			OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S	p.N663S	NM_006649.3	NP_006640.2	0	1	1		Q9BVJ6	UT14A_HUMAN		14	2016	+			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	1	1	hg19	c.1988A>G	CCDS14615.1	1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031633	0.35797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.08	1.95	0.26073	6.08	1.95	0.26073	.	0.752025	0.14031	N	0.346157	T	0.32164	0.0820	M	0.85630	2.765	0.25957	N	0.982674	B;P;B	0.52170	0.151;0.951;0.052	B;P;B	0.54544	0.059;0.755;0.063	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9233	5.202	0.15269	0.6379:0.0:0.229:0.1331	.	609;611;663	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	611;663;609;495	ENSP00000388669:N611S;ENSP00000377944:N663S;ENSP00000360090:N609S;ENSP00000360081:N495S	ENSP00000360081:N495S	N	+	2	0	0	UTP14A	128887941	128887941	0.904000	0.30761	0.994000	0.49952	0.989000	0.77384	1.502000	0.35704	0.346000	0.23899	0.486000	0.48141	AAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_006649			97	95		266	257	1		1	1		0	0	85	0		1	1	0	57	0	23	0	97	266
AIFM1	9131	broad.mit.edu	37	X	129263959	129263959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	586					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTTGCTATTGGCATTCGGTTA	0.507																																						ENST00000287295.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1756-1758)Cca>Tca		apoptosis-inducing factor, mitochondrion-associated, 1	Flavin adenine dinucleotide(DB03147)						157.0	130.0	139.0					X																	129263959		2203	4300	6503	SO:0001583	missense	9131	0	0					g.chrX:129263959G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1756C>T	chrX.hg19:g.129263959G>A	ENSP00000287295:p.Pro586Ser						AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S	p.P586S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	0	1	1		O95831	AIFM1_HUMAN		15	1986	-			A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	1	1	hg19	c.1756C>T	CCDS14618.1	1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842653	0.32606	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.82255	1.06;1.05;-1.59;1.06;-0.59	4.94	3.03	0.35002	4.94	3.03	0.35002	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	L	0.42487	1.325	0.80722	D	1	B;P;P	0.42941	0.057;0.747;0.794	B;B;B	0.38020	0.026;0.263;0.135	T	0.69602	-0.5101	10	0.27082	T	0.32	-8.0288	10.8515	0.46773	0.0:0.1371:0.7176:0.1453	.	299;582;586	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	S	247;299;582;234;586	ENSP00000431222:P247S;ENSP00000316320:P299S;ENSP00000315122:P582S;ENSP00000405879:P234S;ENSP00000287295:P586S	ENSP00000287295:P586S	P	-	1	0	0	AIFM1	129091640	129091640	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.429000	0.80309	1.028000	0.39785	0.600000	0.82982	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2	1	0	1		2	2	2	0		0	0	196		196	194	1	2.060000	-20.000000	1	0.170000				192	189		644	631	1		1	1		0	0	196	0		1	1	0	42	0	58	0	192	644
TLR8	51311	broad.mit.edu	37	X	12937820	12937820	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000218032.6	+	2	748	c.661C>A	c.(661-663)Cca>Aca	p.P221T	TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	221					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)			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)	ACCCAAACTGCCAAGCTCCCT	0.368																																						ENST00000218032.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(661-663)Cca>Aca		toll-like receptor 8	Imiquimod(DB00724)						64.0	69.0	67.0					X																	12937820		2203	4298	6501	SO:0001583	missense	51311	0	0					g.chrX:12937820C>A	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.661C>A	chrX.hg19:g.12937820C>A	ENSP00000218032:p.Pro221Thr						TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	p.P221T	NM_138636.4	NP_619542.1	0	1	1		Q9NR97	TLR8_HUMAN		2	748	+			B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	1	1	hg19	c.661C>A	CCDS14152.1	1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044863	0.36085	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.05868	0.0153	M	0.84511	2.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01238	-1.1409	10	0.87932	D	0	.	11.3276	0.49458	0.0:0.901:0.0:0.099	.	221;239	Q9NR97;D1CS70	TLR8_HUMAN;.	T	221;239	ENSP00000218032:P221T;ENSP00000312082:P239T	ENSP00000218032:P221T	P	+	1	0	0	TLR8	12847741	12847741	1.000000	0.71417	0.503000	0.27626	0.029000	0.11900	3.064000	0.49986	2.048000	0.60808	0.523000	0.50628	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-20.000000	1	0.170000	NM_016610			111	108		443	435	1		1	0		0	0	102	0		1	9.833820e-01	0	0	0	28	0	111	443
RAB33A	9363	broad.mit.edu	37	X	129318474	129318474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	158					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522																																						ENST00000257017.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(472-474)caG>caT		RAB33A, member RAS oncogene family							129.0	96.0	107.0					X																	129318474		2203	4300	6503	SO:0001583	missense	9363	0	0					g.chrX:129318474G>T	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.474G>T	chrX.hg19:g.129318474G>T	ENSP00000257017:p.Gln158His							p.Q158H	NM_004794.2	NP_004785.1	0	1	1		Q14088	RB33A_HUMAN		2	888	+			Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	1	1	hg19	c.474G>T	CCDS14621.1	1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222487	0.58668	.	.	ENSG00000134594	ENST00000257017	T	0.78126	-1.15	5.02	5.02	0.67125	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.170222	0.52532	D	0.000071	T	0.77837	0.4190	L	0.39245	1.2	0.45541	D	0.998494	P	0.52170	0.951	P	0.53450	0.726	T	0.80153	-0.1501	10	0.87932	D	0	-11.242	11.1761	0.48601	0.0869:0.0:0.9131:0.0	.	158	Q14088	RB33A_HUMAN	H	158	ENSP00000257017:Q158H	ENSP00000257017:Q158H	Q	+	3	2	2	RAB33A	129146155	129146155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.430000	0.34914	2.076000	0.62316	0.436000	0.28706	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	1	0	1		2	2	2	0		0	0	73		73	73	1	2.060000	-20.000000	1	0.170000	NM_004794			62	62		270	265	1		1	1		0	0	73	0		1	7.660048e-01	0	2	0	12	0	62	270
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCACCCAGACGCAAGACAGTA	0.488																																						ENST00000305536.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(571-573)cGc>cAc		RNA binding motif protein, X-linked 2							55.0	55.0	55.0					X																	129546425		1960	4131	6091	SO:0001583	missense	51634	0	0					g.chrX:129546425G>A	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.572G>A	chrX.hg19:g.129546425G>A	ENSP00000339090:p.Arg191His							p.R191H	NM_016024.2	NP_057108.2	0	1	1		Q9Y388	RBMX2_HUMAN		6	636	+			A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	1	1	hg19	c.572G>A	CCDS43993.1	1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273812	0.10403	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12984	2.63	4.31	1.46	0.22682	4.31	1.46	0.22682	.	0.761838	0.13093	N	0.414413	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33854	-0.9852	10	0.48119	T	0.1	.	2.6917	0.05122	0.2525:0.0:0.5178:0.2297	.	191	Q9Y388	RBMX2_HUMAN	H	191	ENSP00000339090:R191H	ENSP00000339090:R191H	R	+	2	0	0	RBMX2	129374106	129374106	0.006000	0.16342	0.278000	0.24718	0.031000	0.12232	0.308000	0.19314	0.358000	0.24211	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	1	0	1		2	2	2	0		0	0	104		104	102	1	2.060000	-20.000000	1	0.170000	NM_016024			80	77		365	353	1		1	1		0	0	104	0		1	9.999983e-01	0	43	0	46	0	80	365
ENOX2	10495	broad.mit.edu	37	X	129771328	129771328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000370927.1	-	9	1294	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.L425I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000370927.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.L425I(1)	endometrium(1)	33						c.(1273-1275)Ctc>Atc		ecto-NOX disulfide-thiol exchanger 2							240.0	188.0	206.0					X																	129771328		2203	4300	6503	SO:0001583	missense	10495	0	0					g.chrX:129771328G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1273C>A	chrX.hg19:g.129771328G>T	ENSP00000359965:p.Leu425Ile						ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I	p.L425I			0	1	1		Q16206	ENOX2_HUMAN		9	1294	-			A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	1	1	hg19	c.1273C>A	CCDS14626.1	1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622491	0.66787	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	4.19	0.49359	5.09	4.19	0.49359	.	0.077113	0.53938	D	0.000052	T	0.38134	0.1029	M	0.73217	2.22	0.47659	D	0.999484	P;P	0.38020	0.615;0.615	B;B	0.43082	0.407;0.407	T	0.20672	-1.0268	9	.	.	.	-9.705	12.2879	0.54803	0.0:0.1667:0.8333:0.0	.	425;453	Q16206;A4QPE1	ENOX2_HUMAN;.	I	396;396;425;396;453;425	ENSP00000337146:L425I;ENSP00000359965:L425I	.	L	-	1	0	0	ENOX2	129599009	129599009	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.113000	0.64640	2.345000	0.79718	0.600000	0.82982	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	0	0	1		18	2	2	1		1	1	130		130	130	1	2.060000	-20.000000	1	0.170000	NM_182314			171	167		497	488	1		1	1		1	0	130	0		1	9.981486e-01	0	6	0	24	0	171	497
ENOX2	10495	broad.mit.edu	37	X	129801587	129801587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129801587A>G	ENST00000370927.1	-	6	932	c.911T>C	c.(910-912)gTg>gCg	p.V304A	ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000338144.3_Missense_Mutation_p.V304A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	304					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTCTCGTTCACCAGGCGGCG	0.502																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000370927.1	0.270000	0.100000	2.300000e-01	1.300000e-01	0.170000	0.186118	0.170000	0.180000																										0				33						c.(910-912)gTg>gCg		ecto-NOX disulfide-thiol exchanger 2							212.0	195.0	201.0					X																	129801587		2203	4300	6503	SO:0001583	missense	10495	0	0					g.chrX:129801587A>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.911T>C	chrX.hg19:g.129801587A>G	ENSP00000359965:p.Val304Ala						ENOX2_ENST00000338144.3_Missense_Mutation_p.V304A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A	p.V304A			0	1	1		Q16206	ENOX2_HUMAN		6	932	-			A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	0	1	hg19	c.911T>C	CCDS14626.1	0	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230892	0.39399	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28666	1.6;1.6	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.352395	0.29868	N	0.010999	T	0.18467	0.0443	N	0.14661	0.345	0.29624	N	0.846001	B;B	0.21753	0.033;0.06	B;B	0.24006	0.034;0.05	T	0.13150	-1.0520	9	.	.	.	-14.955	11.7708	0.51958	1.0:0.0:0.0:0.0	.	304;332	Q16206;A4QPE1	ENOX2_HUMAN;.	A	275;275;304;275;332;304;275	ENSP00000337146:V304A;ENSP00000359965:V304A	.	V	-	2	0	0	ENOX2	129629268	129629268	0.999000	0.42202	0.973000	0.42090	0.931000	0.56810	4.650000	0.61440	1.908000	0.55244	0.481000	0.45027	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	0	0	0		21	2	2	1		1	1	278		278	275	1	2.060000	-10.521590	1	0.170000	NM_182314			18	17		1176	1164	0		0	0		1	0	278	0		3.595905e-01	1.133793e-01	0	1	0	35	0	18	1176
IGSF1	3547	broad.mit.edu	37	X	130409168	130409168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000361420.3	-	17	3356	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y	IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.D1084Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1093	Ig-like C2-type 11.				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)			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						AATGTTGAGTCTGGCAGTTCC	0.557																																						ENST00000361420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(3277-3279)Gac>Tac		immunoglobulin superfamily, member 1							132.0	132.0	132.0					X																	130409168		2203	4300	6503	SO:0001583	missense	3547	0	0					g.chrX:130409168C>A	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.3277G>T	chrX.hg19:g.130409168C>A	ENSP00000355010:p.Asp1093Tyr						IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000370904.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y	p.D1093Y			0	1	1		Q8N6C5	IGSF1_HUMAN		17	3356	-			B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	1	1	hg19	c.3277G>T	CCDS14629.1	1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838615	0.00573	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.83	3.96	0.45880	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616837	0.16303	N	0.220364	T	0.03695	0.0105	N	0.05467	-0.045	0.31995	N	0.604081	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.984;0.924;0.998	T	0.10382	-1.0632	10	0.02654	T	1	.	8.2379	0.31638	0.0:0.8894:0.0:0.1106	.	1084;537;1093	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	1084;1093;1084;1098	ENSP00000359947:D1084Y;ENSP00000355010:D1093Y;ENSP00000359941:D1084Y;ENSP00000359940:D1098Y	ENSP00000355010:D1093Y	D	-	1	0	0	IGSF1	130236849	130236849	1.000000	0.71417	0.994000	0.49952	0.029000	0.11900	1.162000	0.31786	1.152000	0.42452	-0.215000	0.12644	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1		2	2	2	0		0	0	255		255	254	1	2.060000	-20.000000	1	0.170000				263	260		821	813	1		1	0		0	0	255	0		1	0	0	0	0	1	0	263	821
IGSF1	3547	broad.mit.edu	37	X	130412536	130412536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000361420.3	-	12	2019	c.1940T>G	c.(1939-1941)cTt>cGt	p.L647R	IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.L638R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	647	Ig-like C2-type 6.				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)			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						CAGGGCGCCAAGGGGGAAGGC	0.632																																						ENST00000361420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1939-1941)cTt>cGt		immunoglobulin superfamily, member 1							54.0	55.0	55.0					X																	130412536		2203	4300	6503	SO:0001583	missense	3547	0	0					g.chrX:130412536A>C	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.1940T>G	chrX.hg19:g.130412536A>C	ENSP00000355010:p.Leu647Arg						IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000370904.1_Missense_Mutation_p.L638R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R	p.L647R			0	1	1		Q8N6C5	IGSF1_HUMAN		12	2019	-			B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	1	1	hg19	c.1940T>G	CCDS14629.1	1	.	.	.	.	.	.	.	.	.	.	a	17.30	3.354157	0.61293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	5.09	5.09	0.68999	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003622	T	0.06050	0.0157	M	0.78285	2.405	0.32560	N	0.531231	P;D;D	0.71674	0.672;0.998;0.97	P;D;P	0.74023	0.758;0.982;0.857	T	0.01993	-1.1233	10	0.87932	D	0	.	10.4656	0.44604	1.0:0.0:0.0:0.0	.	638;91;647	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	638;647;638;652	ENSP00000359947:L638R;ENSP00000355010:L647R;ENSP00000359941:L638R;ENSP00000359940:L652R	ENSP00000355010:L647R	L	-	2	0	0	IGSF1	130240217	130240217	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.810000	0.52873	0.483000	0.47432	CTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-6.142052	1	0.170000				135	134		390	379	1		1	0		0	0	109	0		1	0	0	0	0	1	0	135	390
IGSF1	3547	broad.mit.edu	37	X	130415855	130415855	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000361420.3	-	8	1389	c.1310T>C	c.(1309-1311)aTc>aCc	p.I437T	IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370904.1_Missense_Mutation_p.I428T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	437	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)			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						CTGAAGGGTGATGGCCTTTCC	0.473																																						ENST00000361420.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				78						c.(1309-1311)aTc>aCc		immunoglobulin superfamily, member 1							89.0	74.0	79.0					X																	130415855		2203	4300	6503	SO:0001583	missense	3547	0	0					g.chrX:130415855A>G	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.1310T>C	chrX.hg19:g.130415855A>G	ENSP00000355010:p.Ile437Thr						IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370904.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T	p.I437T			0	1	1		Q8N6C5	IGSF1_HUMAN		8	1389	-			B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	1	1	hg19	c.1310T>C	CCDS14629.1	1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318945	0.41096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00776	5.71;5.71;5.71;5.71	4.21	3.04	0.35103	4.21	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531595	0.17345	N	0.177610	T	0.01695	0.0054	L	0.28556	0.865	0.23144	N	0.998223	D;D	0.60160	0.981;0.987	D;D	0.72982	0.92;0.979	T	0.51756	-0.8665	10	0.87932	D	0	.	5.4452	0.16531	0.8738:0.0:0.1262:0.0	.	428;437	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	428;437;428;437	ENSP00000359947:I428T;ENSP00000355010:I437T;ENSP00000359941:I428T;ENSP00000359940:I437T	ENSP00000355010:I437T	I	-	2	0	0	IGSF1	130243536	130243536	0.999000	0.42202	0.605000	0.28930	0.663000	0.39108	2.733000	0.47360	0.761000	0.33130	0.481000	0.45027	ATC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000				61	61		219	219	1		1	0		0	0	64	0		1	1.247719e-01	0	0	0	3	0	61	219
FRMD7	90167	broad.mit.edu	37	X	131228097	131228097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)				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)					ACCATCAACGCTGTACAGTTG	0.443																																						ENST00000298542.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(355-357)Gcg>Acg		FERM domain containing 7							204.0	168.0	180.0					X																	131228097		2203	4300	6503	SO:0001583	missense	90167	0	0					g.chrX:131228097C>T	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	ENST00000298542.4:c.355G>A	chrX.hg19:g.131228097C>T	ENSP00000298542:p.Ala119Thr						FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T	p.A119T	NM_194277.2	NP_919253.1	0	1	1		Q6ZUT3	FRMD7_HUMAN		5	530	-	Acute lymphoblastic leukemia(192;0.000127)		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	1	1	hg19	c.355G>A	CCDS35397.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.077177	0.94000	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78246	-1.16;-1.16	5.13	5.13	0.70059	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89541	0.3792	10	0.66056	D	0.02	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	119;104	ENSP00000298542:A119T;ENSP00000417996:A104T	ENSP00000298542:A119T	A	-	1	0	0	FRMD7	131055778	131055778	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	5.685000	0.68204	2.262000	0.75019	0.529000	0.55759	GCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	1	0	1		13	2	2	0		0	1	183		183	183	1	2.060000	-20.000000	1	0.170000	NM_194277			118	117		506	501	1		1			0	0	183	0		1	0	0	0	0	0	0	118	506
RAP2C	57826	broad.mit.edu	37	X	131348212	131348212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	179					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403																																						ENST00000342983.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(535-537)aCt>aAt		RAP2C, member of RAS oncogene family							104.0	87.0	93.0					X																	131348212		2203	4299	6502	SO:0001583	missense	57826	0	0					g.chrX:131348212G>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.536C>A	chrX.hg19:g.131348212G>T	ENSP00000340274:p.Thr179Asn						RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N|RAP2C-AS1_ENST00000421483.2_RNA	p.T179N	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	0	1	1		Q9Y3L5	RAP2C_HUMAN		3	1282	-	Acute lymphoblastic leukemia(192;0.000127)		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	1	1	hg19	c.536C>A	CCDS14632.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465942	0.63625	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.66638	-0.22;-0.22	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.153294	0.64402	D	0.000016	T	0.52354	0.1729	N	0.12746	0.255	0.51767	D	0.999935	B	0.19583	0.037	B	0.12156	0.007	T	0.46289	-0.9202	10	0.41790	T	0.15	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	179	Q9Y3L5	RAP2C_HUMAN	N	179	ENSP00000340274:T179N;ENSP00000359911:T179N	ENSP00000340274:T179N	T	-	2	0	0	RAP2C	131175893	131175893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.424000	0.97464	2.423000	0.82170	0.550000	0.68814	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	1	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-20.000000	1	0.170000	NM_021183			55	53		233	231	1		1	1		0	0	72	0		1	9.999988e-01	0	36	0	53	0	55	233
GPC4	2239	broad.mit.edu	37	X	132445370	132445370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|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)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468																																						ENST00000370828.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(793-795)Cca>Tca		glypican 4							165.0	151.0	156.0					X																	132445370		2203	4300	6503	SO:0001583	missense	2239	0	0					g.chrX:132445370G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.793C>T	chrX.hg19:g.132445370G>A	ENSP00000359864:p.Pro265Ser						GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	p.P265S	NM_001448.2	NP_001439.2	0	1	1		O75487	GPC4_HUMAN		4	1317	-	Acute lymphoblastic leukemia(192;0.000127)		B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	1	1	hg19	c.793C>T	CCDS14637.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554225	0.86231	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.61040	0.14;0.14	5.61	5.61	0.85477	5.61	5.61	0.85477	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.83379	0.0011	10	0.72032	D	0.01	-6.6642	17.5641	0.87914	0.0:0.0:1.0:0.0	.	265	O75487	GPC4_HUMAN	S	265;259;195	ENSP00000359864:P265S;ENSP00000444959:P195S	ENSP00000359864:P265S	P	-	1	0	0	GPC4	132273036	132273036	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.629000	0.74267	2.363000	0.80096	0.600000	0.82982	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	1	0	1		2	2	2	0		0	0	186		186	184	1	2.060000	-20.000000	1	0.170000	NM_001448			152	150		537	530	1		1	1		0	0	186	0		1	1	0	36	0	100	0	152	537
GPC3	2719	broad.mit.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec/X		Simpson-Golabi-Behmel syndrome	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	Xq26.1	2719	T, D, Mis, N, F, S	glypican 3				O	O		Wilms tumour			0				36						c.(1096-1098)Ctc>Atc		glypican 3							77.0	72.0	74.0					X																	132833993		2203	4296	6499	SO:0001583	missense	2719	0	0		Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS	g.chrX:132833993G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>A	chrX.hg19:g.132833993G>T	ENSP00000359854:p.Leu366Ile						GPC3_ENST00000394299.2_Missense_Mutation_p.L389I|GPC3_ENST00000543339.1_Missense_Mutation_p.L312I	p.L366I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	0	1	1		P51654	GPC3_HUMAN		4	1541	-	Acute lymphoblastic leukemia(192;0.000127)		C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	1	1	hg19	c.1096C>A	CCDS14638.1	1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205259	0.22205	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	5.3	3.51	0.40186	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.32164	0.0820	L	0.36672	1.1	0.27451	N	0.95343	B;P;B;B	0.39862	0.434;0.692;0.409;0.156	B;B;B;B	0.36030	0.216;0.164;0.216;0.216	T	0.10894	-1.0610	10	0.21540	T	0.41	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	366;389;312	ENSP00000359854:L366I;ENSP00000377836:L389I;ENSP00000444222:L312I	ENSP00000359854:L366I	L	-	1	0	0	GPC3	132661659	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	1	0	1		2	2	2	0		0	0	101		101	101	1	2.060000	-20.000000	1	0.170000	NM_004484			75	74		282	281	1		1	0		0	0	101	0		1	9.889405e-01	0	0	0	29	0	75	282
PLAC1	10761	broad.mit.edu	37	X	133700087	133700087	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:133700087A>C	ENST00000359237.4	-	3	911	c.626T>G	c.(625-627)aTt>aGt	p.I209S	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CATGGACCCAATCATATCATC	0.448																																						ENST00000359237.4	0.530000	0.160000	4.300000e-01	2.300000e-01	0.310000	0.333558	0.310000	0.300000																										0				6						c.(625-627)aTt>aGt		placenta-specific 1							87.0	83.0	84.0					X																	133700087		2203	4300	6503	SO:0001583	missense	10761	0	0					g.chrX:133700087A>C	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.626T>G	chrX.hg19:g.133700087A>C	ENSP00000352173:p.Ile209Ser						PLAC1_ENST00000476971.1_5'UTR	p.I209S	NM_021796.3	NP_068568.1	0	1	1					3	911	-	Acute lymphoblastic leukemia(192;0.000127)			Missense_Mutation	SNP	ENST00000359237.4	1	1	hg19	c.626T>G	CCDS14642.1	0	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482255	0.26598	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-1.11	0.09840	4.4	-1.11	0.09840	.	.	.	.	.	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.19391	0.025	T	0.21724	-1.0237	8	0.87932	D	0	-2.3614	6.1346	0.20225	0.3498:0.5428:0.1074:0.0	.	209	Q9HBJ0	PLAC1_HUMAN	S	209	.	ENSP00000352173:I209S	I	-	2	0	0	PLAC1	133527753	133527753	0.012000	0.17670	0.000000	0.03702	0.133000	0.20885	0.768000	0.26590	-0.286000	0.09076	0.486000	0.48141	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	0	0	1		2	2	2	0		0	0	99		99	98	1	2.060000	-10.097360	1	0.170000	NM_021796			10	9		371	363	0		1	0		0	0	99	0		9.965823e-01	1.057596e-01	0	1	0	18	0	10	371
CT55	54967	broad.mit.edu	37	X	134305013	134305013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000276241.6	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000344129.2_Missense_Mutation_p.G28D	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612																																						ENST00000276241.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(82-84)gGc>gAc									104.0	90.0	95.0					X																	134305013		2203	4300	6503	SO:0001583	missense	0	0	0					g.chrX:134305013C>T																												ENST00000276241.6:c.83G>A	chrX.hg19:g.134305013C>T	ENSP00000276241:p.Gly28Asp						CXorf48_ENST00000344129.2_Missense_Mutation_p.G28D	p.G28D	NM_001031705.2	NP_001026875.1	0	1	1		Q8WUE5	CT55_HUMAN		1	309	-	Acute lymphoblastic leukemia(192;0.000127)		Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	1	1	hg19	c.83G>A	CCDS35400.1	1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224414	0.01530	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.32023	1.47;1.47	2.25	-4.51	0.03483	2.25	-4.51	0.03483	.	.	.	.	.	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	9	0.20046	T	0.44	0.5962	10.7492	0.46198	0.0:0.1935:0.0:0.8065	.	28	Q8WUE5	CX048_HUMAN	D	28	ENSP00000276241:G28D;ENSP00000343893:G28D	ENSP00000276241:G28D	G	-	2	0	0	CXorf48	134132679	134132679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-2.067000	0.00885	-1.004000	0.02495	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-4.062408	1	0.170000				87	86		313	310	1		1			0	0	92	0		1	0	0	0	0	0	0	87	313
DDX26B	203522	broad.mit.edu	37	X	134711279	134711279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488																																						ENST00000370752.4	1.000000	0.870000	1	9.800000e-01	0.990000	0.988195	0.990000	1.000000																										2	Substitution - coding silent(2)	p.G645G(2)	large_intestine(1)|endometrium(1)	9						c.(1933-1935)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							220.0	178.0	192.0					X																	134711279		2203	4300	6503	SO:0001819	synonymous_variant	203522	2	121410	33				g.chrX:134711279C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1935C>T	chrX.hg19:g.134711279C>T							DDX26B_ENST00000481908.1_Intron	p.G645G	NM_182540.4	NP_872346.3	0	1	1		Q5JSJ4	DX26B_HUMAN		14	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	1	1	hg19	c.1935C>T	CCDS35401.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	1	0	1		2	2	2	0		0	0	176		176	174	1	2.060000	-3.221883	1	0.170000	NM_182540			65	66		622	612	0		1	1		0	0	176	0		1	2.836621e-01	0	3	0	8	0	65	622
SLC9A6	10479	broad.mit.edu	37	X	135067752	135067752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370698.3	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	31					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGTTGCTCCTCGCAGT	0.716																																						ENST00000370698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(91-93)Ctc>Atc		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							26.0	28.0	27.0					X																	135067752		2203	4296	6499	SO:0001583	missense	10479	0	0					g.chrX:135067752C>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.91C>A	chrX.hg19:g.135067752C>A	ENSP00000359732:p.Leu31Ile						SLC9A6_ENST00000370695.4_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	p.L31I	NM_006359.2	NP_006350.1	0	1	1		Q92581	SL9A6_HUMAN		1	126	+	Acute lymphoblastic leukemia(192;0.000127)		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	1	1	hg19	c.91C>A	CCDS14654.1	1	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786621	0.49997	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.58060	0.39;0.36	4.18	3.29	0.37713	4.18	3.29	0.37713	.	0.425334	0.22521	N	0.058974	T	0.35128	0.0921	L	0.27053	0.805	0.31981	N	0.60592	B;B	0.22683	0.073;0.039	B;B	0.18561	0.022;0.014	T	0.38308	-0.9667	10	0.41790	T	0.15	.	7.4117	0.27021	0.0:0.7844:0.0:0.2156	.	31;31	Q92581-2;Q92581	.;SL9A6_HUMAN	I	31	ENSP00000359732:L31I;ENSP00000359729:L31I	ENSP00000359729:L31I	L	+	1	0	0	SLC9A6	134895418	134895418	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.741000	0.47426	1.913000	0.55393	0.373000	0.22412	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	1	0	1		2	2	2	0		0	0	51		51	48	1	2.060000	-20.000000	1	0.170000	NM_006359			71	71		221	216	0		1	1		0	0	51	0		1	8.263752e-01	0	8	0	4	0	71	221
SLC9A6	10479	broad.mit.edu	37	X	135095513	135095513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370698.3	+	9	1092	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.V385I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	353					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TATAGGTGTAGTTGCAGTATT	0.363																																						ENST00000370698.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1057-1059)Gtt>Att		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							192.0	165.0	174.0					X																	135095513		2203	4300	6503	SO:0001583	missense	10479	0	0					g.chrX:135095513G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1057G>A	chrX.hg19:g.135095513G>A	ENSP00000359732:p.Val353Ile						SLC9A6_ENST00000370695.4_Missense_Mutation_p.V385I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	p.V353I	NM_006359.2	NP_006350.1	0	1	1		Q92581	SL9A6_HUMAN		9	1092	+	Acute lymphoblastic leukemia(192;0.000127)		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	1	1	hg19	c.1057G>A	CCDS14654.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911918	0.92178	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.70787	2.145	0.80722	D	1	P;D	0.71674	0.815;0.998	P;D	0.70935	0.551;0.971	T	0.33085	-0.9882	10	0.87932	D	0	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	385;353	Q92581-2;Q92581	.;SL9A6_HUMAN	I	333;353;385	ENSP00000359735:V333I;ENSP00000359732:V353I;ENSP00000359729:V385I	ENSP00000359729:V385I	V	+	1	0	0	SLC9A6	134923179	134923179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.423000	0.97461	2.405000	0.81733	0.513000	0.50165	GTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.363	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_006359			111	108		393	391	1		1	1		0	0	103	0		1	9.998516e-01	0	19	0	29	0	111	393
MAP7D3	79649	broad.mit.edu	37	X	135314112	135314112	+	Missense_Mutation	SNP	G	G	A	rs369779481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	ENST00000316077.9	-	8	1224	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				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)					GAATGAGTCCGTGCTCACCTC	0.572													G||||G|||	13|14	0.00344371|0.00370861	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		14333|14333	0.0109|0.0109		0.0|0.001	False|False		,,,|,,,				2504|2504	0.002|0.002					ENST00000316077.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(1003-1005)aCg>aTg		MAP7 domain containing 3		G	MET/THR,MET/THR,MET/THR	2,3787		0,2,1607,571	123.0	127.0	125.0		950,899,1004	-8.4	0.0	X		125	0,6655		0,0,2414,1827	no	missense,missense,missense	MAP7D3	NM_001173516.1,NM_001173517.1,NM_024597.3	81,81,81	0,2,4021,2398	AA,AG,GG,G		0.0,0.0528,0.0191	possibly-damaging,possibly-damaging,possibly-damaging	317/859,300/842,335/877	135314112	2,10442	2180	4241	6421	SO:0001583	missense	79649	59	121256	54				g.chrX:135314112G>A	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.1004C>T	chrX.hg19:g.135314112G>A	ENSP00000318086:p.Thr335Met						MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	p.T335M	NM_024597.3	NP_078873.2	0	1	1		Q8IWC1	MA7D3_HUMAN		8	1224	-	Acute lymphoblastic leukemia(192;0.000127)		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	1	0	hg19	c.1004C>T	CCDS44004.1	1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774550	0.16051	5.28E-4	0.0	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	4.19	-8.38	0.00973	4.19	-8.38	0.00973	.	.	.	.	.	T	0.01489	0.0048	N	0.01168	-0.975	0.09310	N	1	P;B;B;B	0.36282	0.546;0.181;0.234;0.17	B;B;B;B	0.20184	0.027;0.007;0.018;0.028	T	0.47032	-0.9148	9	0.40728	T	0.16	0.0624	1.9415	0.03348	0.3301:0.2269:0.3298:0.1132	.	317;294;335;300	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	M	300;335;317;294	ENSP00000359695:T300M;ENSP00000318086:T335M;ENSP00000359697:T317M;ENSP00000359694:T294M	ENSP00000318086:T335M	T	-	2	0	0	MAP7D3	135141778	135141778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.966000	0.03825	-2.262000	0.00690	-1.498000	0.00962	ACG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	1	0	1		2	2	2	0		0	0	202		202	201	1	2.060000	-2.979226	1	0.170000				174	173		591	583	1		1	1		0	0	202	0		1	9.961899e-01	0	11	0	20	0	174	591
MAP7D3	79649	broad.mit.edu	37	X	135328253	135328253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000316077.9	-	3	444	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	75					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R372H(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)					CTCCTCTCTGCGCTCTCTTGC	0.274																																						ENST00000316077.9	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R372H(1)	large_intestine(1)	44						c.(223-225)cGc>cAc		MAP7 domain containing 3							168.0	141.0	150.0					X																	135328253		1825	4082	5907	SO:0001583	missense	79649	5	120794	38				g.chrX:135328253C>T	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.224G>A	chrX.hg19:g.135328253C>T	ENSP00000318086:p.Arg75His						MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	p.R75H	NM_024597.3	NP_078873.2	0	1	1		Q8IWC1	MA7D3_HUMAN		3	444	-	Acute lymphoblastic leukemia(192;0.000127)		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	1	1	hg19	c.224G>A	CCDS44004.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986959	0.53934	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.000000	0.32802	N	0.005639	T	0.34978	0.0916	M	0.70275	2.135	0.42323	D	0.992268	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.05566	-1.0877	10	0.72032	D	0.01	-17.3619	18.3794	0.90445	0.0:1.0:0.0:0.0	.	57;75;75;75	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	75;75;57;75	ENSP00000359695:R75H;ENSP00000318086:R75H;ENSP00000359697:R57H;ENSP00000359694:R75H	ENSP00000318086:R75H	R	-	2	0	0	MAP7D3	135155919	135155919	0.997000	0.39634	0.031000	0.17742	0.002000	0.02628	4.724000	0.61972	2.466000	0.83321	0.594000	0.82650	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.274	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000				80	78		363	355	1		1	1		0	0	84	0		1	9.986538e-01	0	13	0	34	0	80	363
GPR112	139378	broad.mit.edu	37	X	135429074	135429074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1070					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.T1070N(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)					TTGGATCAGACTGCTTCCACA	0.468																																						ENST00000394143.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T1070N(1)	endometrium(1)	199						c.(3208-3210)aCt>aTt		G protein-coupled receptor 112							270.0	249.0	256.0					X																	135429074		2203	4300	6503	SO:0001583	missense	139378	0	0					g.chrX:135429074C>T	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.3209C>T	chrX.hg19:g.135429074C>T	ENSP00000377699:p.Thr1070Ile						GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I	p.T1070I	NM_153834.3	NP_722576.3	0	1	1		Q8IZF6	GP112_HUMAN		6	3500	+	Acute lymphoblastic leukemia(192;0.000127)		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	1	1	hg19	c.3209C>T	CCDS35409.1	1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313932	0.40996	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	1.87	0.972	0.19704	1.87	0.972	0.19704	.	.	.	.	.	T	0.47414	0.1444	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	T	0.27739	-1.0065	9	0.87932	D	0	.	5.7438	0.18108	0.0:0.6663:0.3337:0.0	.	1007;865;1070	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1070;1070;865;1007;865	ENSP00000377699:T1070I;ENSP00000359686:T1070I;ENSP00000416526:T865I;ENSP00000287534:T1007I;ENSP00000377697:T865I	ENSP00000287534:T1007I	T	+	2	0	0	GPR112	135256740	135256740	0.026000	0.19158	0.001000	0.08648	0.426000	0.31534	0.101000	0.15251	0.241000	0.21283	0.436000	0.28706	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	1	0	0		2	2	2	0		0	0	328		328	327	1	2.060000	-20.000000	1	0.170000				300	295		1068	1048	1		1			0	0	328	0		1	0	0	0	0	0	0	300	1068
GPR112	139378	broad.mit.edu	37	X	135429170	135429170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					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)			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)					ACATCCATGGCAGTTCCTTCT	0.478																																						ENST00000394143.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				199						c.(3304-3306)gCa>gTa		G protein-coupled receptor 112							165.0	139.0	148.0					X																	135429170		2203	4300	6503	SO:0001583	missense	139378	0	0					g.chrX:135429170C>T	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.3305C>T	chrX.hg19:g.135429170C>T	ENSP00000377699:p.Ala1102Val						GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V	p.A1102V	NM_153834.3	NP_722576.3	0	1	1		Q8IZF6	GP112_HUMAN		6	3596	+	Acute lymphoblastic leukemia(192;0.000127)		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	1	1	hg19	c.3305C>T	CCDS35409.1	1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009460	0.19277	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.03;1.03;1.0;1.1;1.0	2.82	-1.72	0.08107	2.82	-1.72	0.08107	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;B;B	0.36909	0.573;0.035;0.02	B;B;B	0.33521	0.165;0.01;0.004	T	0.15065	-1.0450	9	0.19590	T	0.45	.	2.4094	0.04420	0.409:0.3085:0.0:0.2825	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1102;1102;897;1039;897	ENSP00000377699:A1102V;ENSP00000359686:A1102V;ENSP00000416526:A897V;ENSP00000287534:A1039V;ENSP00000377697:A897V	ENSP00000287534:A1039V	A	+	2	0	0	GPR112	135256836	135256836	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.277000	0.18734	-0.434000	0.07275	-0.413000	0.06143	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	1	0	0		2	2	2	0		0	0	177		177	176	1	2.060000	-4.179864	1	0.170000				165	165		601	587	1		1			0	0	177	0		1	0	0	0	0	0	0	165	601
GPR112	139378	broad.mit.edu	37	X	135430783	135430783	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	ENST00000394143.1	+	6	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1640					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)			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)					ACCTTCCAGGATCACACCTAC	0.448																																						ENST00000394143.1	0.500000	0.230000	4.300000e-01	2.800000e-01	0.340000	0.359884	0.340000	0.340000																										0				199						c.(4918-4920)Atc>Ctc		G protein-coupled receptor 112							136.0	128.0	131.0					X																	135430783		2203	4300	6503	SO:0001583	missense	139378	0	0					g.chrX:135430783A>C	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.4918A>C	chrX.hg19:g.135430783A>C	ENSP00000377699:p.Ile1640Leu						GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L|GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L	p.I1640L	NM_153834.3	NP_722576.3	0	1	1		Q8IZF6	GP112_HUMAN		6	5209	+	Acute lymphoblastic leukemia(192;0.000127)		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	1	1	hg19	c.4918A>C	CCDS35409.1	0	.	.	.	.	.	.	.	.	.	.	a	13.03	2.115233	0.37339	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.41	2.16	0.27623	3.41	2.16	0.27623	.	.	.	.	.	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	1	P;B;B	0.51449	0.945;0.392;0.272	P;B;B	0.46237	0.508;0.062;0.028	T	0.08806	-1.0704	9	0.13108	T	0.6	.	5.3713	0.16140	0.7349:0.0:0.0:0.2651	.	1577;1435;1640	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1640;1640;1435;1577;1435	ENSP00000377699:I1640L;ENSP00000359686:I1640L;ENSP00000416526:I1435L;ENSP00000287534:I1577L;ENSP00000377697:I1435L	ENSP00000287534:I1577L	I	+	1	0	0	GPR112	135258449	135258449	0.646000	0.27295	0.001000	0.08648	0.191000	0.23601	2.703000	0.47110	0.192000	0.20272	0.352000	0.21897	ATC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	1		2	2	2	0		0	0	214		214	211	1	2.060000	-19.739500	1	0.170000				25	25		818	803	0		1			0	0	214	0		9.999998e-01	0	0	0	0	0	0	25	818
HTATSF1	27336	broad.mit.edu	37	X	135581769	135581769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000218364.4	+	2	373	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	67					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TACTGAAGATTTCATTGCTAC	0.388																																						ENST00000218364.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(199-201)Ttc>Gtc		HIV-1 Tat specific factor 1							122.0	118.0	119.0					X																	135581769		2203	4300	6503	SO:0001583	missense	27336	0	0					g.chrX:135581769T>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.199T>G	chrX.hg19:g.135581769T>G	ENSP00000218364:p.Phe67Val						HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	p.F67V	NM_014500.4	NP_055315.2	0	1	1		O43719	HTSF1_HUMAN		2	373	+	Acute lymphoblastic leukemia(192;0.000127)		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	1	1	hg19	c.199T>G	CCDS14657.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575253	0.86645	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26223	1.75;1.75	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61307	-0.7089	10	0.72032	D	0.01	-10.3323	14.8256	0.70110	0.0:0.0:0.0:1.0	.	67	O43719	HTSF1_HUMAN	V	67	ENSP00000442699:F67V;ENSP00000218364:F67V	ENSP00000218364:F67V	F	+	1	0	0	HTATSF1	135409435	135409435	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.337000	0.65941	1.882000	0.54519	0.481000	0.45027	TTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	0		2	2	2	0		0	0	182		182	179	1	2.060000	-20.000000	1	0.170000	NM_014500			127	126		491	480	1		1	1		0	0	182	0		1	1	0	77	0	66	0	127	491
HTATSF1	27336	broad.mit.edu	37	X	135581775	135581775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000218364.4	+	2	379	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	69					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTCATTGCTACATATCA	0.393																																						ENST00000218364.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(205-207)Gct>Act		HIV-1 Tat specific factor 1							123.0	120.0	121.0					X																	135581775		2203	4300	6503	SO:0001583	missense	27336	0	0					g.chrX:135581775G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.205G>A	chrX.hg19:g.135581775G>A	ENSP00000218364:p.Ala69Thr						HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	p.A69T	NM_014500.4	NP_055315.2	0	1	1		O43719	HTSF1_HUMAN		2	379	+	Acute lymphoblastic leukemia(192;0.000127)		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	1	1	hg19	c.205G>A	CCDS14657.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.296110	0.95574	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66400	-0.5933	10	0.66056	D	0.02	-18.9917	18.6736	0.91521	0.0:0.0:1.0:0.0	.	69	O43719	HTSF1_HUMAN	T	69	ENSP00000442699:A69T;ENSP00000218364:A69T	ENSP00000218364:A69T	A	+	1	0	0	HTATSF1	135409441	135409441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.550000	0.90675	2.353000	0.79882	0.594000	0.82650	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	0		2	2	2	0		0	0	192		192	189	1	2.060000	-20.000000	1	0.170000	NM_014500			123	122		500	490	1		1	1		0	0	192	0		1	1	0	75	0	67	0	123	500
HTATSF1	27336	broad.mit.edu	37	X	135593823	135593823	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000218364.4	+	9	2093	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	640	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTATTTGATGATGAGTCTGAT	0.393																																						ENST00000218364.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1918-1920)gAt>gGt		HIV-1 Tat specific factor 1							123.0	120.0	121.0					X																	135593823		2202	4300	6502	SO:0001583	missense	27336	0	0					g.chrX:135593823A>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1919A>G	chrX.hg19:g.135593823A>G	ENSP00000218364:p.Asp640Gly						HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	p.D640G	NM_014500.4	NP_055315.2	0	1	1		O43719	HTSF1_HUMAN		9	2093	+	Acute lymphoblastic leukemia(192;0.000127)		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	1	1	hg19	c.1919A>G	CCDS14657.1	1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665511	0.29604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04234	3.67;3.67	4.23	3.08	0.35506	4.23	3.08	0.35506	.	0.664421	0.13400	N	0.390668	T	0.03783	0.0107	N	0.19112	0.55	0.27948	N	0.937253	B	0.19200	0.034	B	0.15052	0.012	T	0.32455	-0.9906	10	0.87932	D	0	-7.1752	7.1947	0.25845	0.8905:0.0:0.1095:0.0	.	640	O43719	HTSF1_HUMAN	G	640	ENSP00000442699:D640G;ENSP00000218364:D640G	ENSP00000218364:D640G	D	+	2	0	0	HTATSF1	135421489	135421489	0.949000	0.32298	0.893000	0.35052	0.617000	0.37484	2.624000	0.46444	0.779000	0.33543	0.425000	0.28330	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	1		2	2	2	0		0	0	168		168	167	1	2.060000	-20.000000	1	0.170000	NM_014500			146	142		482	472	1		1	1		0	0	168	0		1	1	0	173	0	114	0	146	482
VGLL1	51442	broad.mit.edu	37	X	135632947	135632947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428																																						ENST00000370634.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998614	0.990000	1.000000																										0				20						c.(655-657)Cgt>Tgt		vestigial-like family member 1							140.0	132.0	134.0					X																	135632947		2203	4300	6503	SO:0001583	missense	51442	0	0					g.chrX:135632947C>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.655C>T	chrX.hg19:g.135632947C>T	ENSP00000359668:p.Arg219Cys						VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	p.R219C	NM_016267.3	NP_057351.1	0	1	1		Q99990	VGLL1_HUMAN		4	825	+	Acute lymphoblastic leukemia(192;0.000127)		Q5H915	Missense_Mutation	SNP	ENST00000370634.3	1	1	hg19	c.655C>T	CCDS14658.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937268|1.937268	0.34189|0.34189	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|T	0.60424|0.50277	0.74;0.19|0.75	5.15|5.15	-2.25|-2.25	0.06888|0.06888	5.15|5.15	-2.25|-2.25	0.06888|0.06888	.|.	1.249760|.	0.05308|.	N|.	0.524240|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.11329|.	0.006|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|7	0.72032|0.02654	D|T	0.01|1	-0.0024|-0.0024	5.8179|5.8179	0.18506|0.18506	0.0:0.2538:0.4018:0.3444|0.0:0.2538:0.4018:0.3444	.|.	219|.	Q99990|.	VGLL1_HUMAN|.	C|L	219;76;21|136	ENSP00000359668:R219C;ENSP00000388868:R21C|ENSP00000398360:S136L	ENSP00000359668:R219C|ENSP00000398360:S136L	R|S	+|+	1|2	0|0	0|0	VGLL1|VGLL1	135460613|135460613	135460613|135460613	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.068000|-0.068000	0.11561|0.11561	-0.852000|-0.852000	0.04141|0.04141	0.600000|0.600000	0.82982|0.82982	CGT|TCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	1	0	1		2	2	2	0		0	0	82		82	82	1	2.060000	-2.841722	1	0.170000	NM_016267			36	35		267	265	1		1	0		0	0	82	0		1	1.506482e-02	0	1	0	1	0	36	267
EGFL6	25975	broad.mit.edu	37	X	13618094	13618094	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	94	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478																																						ENST00000361306.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(280-282)gAt>gGt		EGF-like-domain, multiple 6							113.0	92.0	99.0					X																	13618094		2203	4300	6503	SO:0001630	splice_region_variant	25975	0	0					g.chrX:13618094A>G	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.281-1A>G	chrX.hg19:g.13618094A>G							EGFL6_ENST00000380602.3_Splice_Site_p.D94G	p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	0	1	1		Q8IUX8	EGFL6_HUMAN		4	538	+			B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Splice_Site	SNP	ENST00000361306.1	1	0	hg19	c.281A>G	CCDS14155.1	1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949921	0.53186	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.99060	-5.38;-5.38	5.09	5.09	0.68999	5.09	5.09	0.68999	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	0.99248	0.9738	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99253	1.0888	9	.	.	.	.	13.7231	0.62740	1.0:0.0:0.0:0.0	.	94;94	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	G	94	ENSP00000355126:D94G;ENSP00000369976:D94G	.	D	+	2	0	0	EGFL6	13528015	13528015	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	8.945000	0.92985	1.695000	0.51148	0.486000	0.48141	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_015507	Missense_Mutation		63	62		256	252	1		1	0		0	0	81	0		1	9.460042e-01	0	0	0	22	0	63	256
EGFL6	25975	broad.mit.edu	37	X	13645136	13645136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	431	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388																																						ENST00000361306.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1291-1293)gGc>gTc		EGF-like-domain, multiple 6							76.0	84.0	81.0					X																	13645136		2203	4300	6503	SO:0001583	missense	25975	0	0					g.chrX:13645136G>T	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.1292G>T	chrX.hg19:g.13645136G>T	ENSP00000355126:p.Gly431Val						EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	p.G431V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	0	1	1		Q8IUX8	EGFL6_HUMAN		11	1549	+			B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	1	1	hg19	c.1292G>T	CCDS14155.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636831	0.67130	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76900	-0.2788	10	0.87932	D	0	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	432;431	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	431;432	ENSP00000355126:G431V;ENSP00000369976:G432V	ENSP00000355126:G431V	G	+	2	0	0	EGFL6	13555057	13555057	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.750000	0.74888	2.059000	0.61396	0.600000	0.82982	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	1	0	1		2	2	2	0		0	0	131		131	130	1	2.060000	-3.486415	1	0.170000	NM_015507			107	106		452	442	1		1	0		0	0	131	0		1	9.848972e-01	0	0	0	30	0	107	452
RAB9A	9367	broad.mit.edu	37	X	13727055	13727055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727055G>A	ENST00000464506.1	+	3	469	c.190G>A	c.(190-192)Gca>Aca	p.A64T	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	64					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTGGGACACGGCAGGTCAGGA	0.428																																						ENST00000464506.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(190-192)Gca>Aca		RAB9A, member RAS oncogene family							151.0	149.0	150.0					X																	13727055		2203	4300	6503	SO:0001583	missense	9367	0	0					g.chrX:13727055G>A	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.190G>A	chrX.hg19:g.13727055G>A	ENSP00000420127:p.Ala64Thr						RAB9A_ENST00000243325.5_3'UTR	p.A64T	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	0	1	1		P51151	RAB9A_HUMAN		3	469	+			A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	1	0	hg19	c.190G>A	CCDS14156.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105151	0.77096	.	.	ENSG00000123595	ENST00000464506	D	0.88741	-2.42	5.51	5.51	0.81932	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	9	.	.	.	-0.246	18.4388	0.90656	0.0:0.0:1.0:0.0	.	64	P51151	RAB9A_HUMAN	T	64	ENSP00000420127:A64T	.	A	+	1	0	0	RAB9A	13636976	13636976	1.000000	0.71417	0.052000	0.19188	0.570000	0.35934	9.606000	0.98325	2.296000	0.77279	0.594000	0.82650	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	0	0	0		19	6	2	2		2	2	264		264	262	1	2.060000	-20.000000	1	0.170000	NM_004251			245	240		768	742	1		1	1		2	0	264	0		1	1	0	72	0	91	0	245	768
RAB9A	9367	broad.mit.edu	37	X	13727191	13727191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	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	109					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418																																						ENST00000464506.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(325-327)gCa>gTa		RAB9A, member RAS oncogene family							97.0	96.0	96.0					X																	13727191		2202	4300	6502	SO:0001583	missense	9367	0	0					g.chrX:13727191C>T	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.326C>T	chrX.hg19:g.13727191C>T	ENSP00000420127:p.Ala109Val						RAB9A_ENST00000243325.5_3'UTR	p.A109V	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	0	1	1		P51151	RAB9A_HUMAN		3	605	+			A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	1	1	hg19	c.326C>T	CCDS14156.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425573	0.83667	.	.	ENSG00000123595	ENST00000464506	T	0.77358	-1.09	5.42	4.52	0.55395	5.42	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83103	-0.0127	9	.	.	.	-3.5585	14.6906	0.69083	0.1455:0.8545:0.0:0.0	.	109	P51151	RAB9A_HUMAN	V	109	ENSP00000420127:A109V	.	A	+	2	0	0	RAB9A	13637112	13637112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.257000	0.74773	0.594000	0.82650	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	1	0	1		2	2	2	0		0	0	162		162	162	1	2.060000	-20.000000	1	0.170000	NM_004251			150	148		599	592	1		1	1		0	0	162	0		1	1	0	72	0	84	0	150	599
OFD1	8481	broad.mit.edu	37	X	13767603	13767603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000340096.6	+	9	1213	c.886C>T	c.(886-888)Cta>Tta	p.L296L	OFD1_ENST00000380567.1_Silent_p.L156L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000380550.3_Silent_p.L296L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	296					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)			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						TATGGATTTGCTAAGAGGAAG	0.303																																						ENST00000340096.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(886-888)Cta>Tta		oral-facial-digital syndrome 1							63.0	61.0	61.0					X																	13767603		2203	4295	6498	SO:0001819	synonymous_variant	8481	0	0					g.chrX:13767603C>T	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.886C>T	chrX.hg19:g.13767603C>T							OFD1_ENST00000380567.1_Silent_p.L156L|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L296L	p.L296L	NM_003611.2	NP_003602.1	0	1	1		O75665	OFD1_HUMAN		9	1213	+			B9ZVU5|O75666|Q4VAK4	Silent	SNP	ENST00000340096.6	1	1	hg19	c.886C>T	CCDS14157.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	1	0	1		2	2	2	0		0	0	74		74	75	1	2.060000	-20.000000	1	0.170000	NM_003611			56	54		186	184	1		1	1		0	0	74	0		1	9.993691e-01	0	22	0	18	0	56	186
ARHGEF6	9459	broad.mit.edu	37	X	135862894	135862894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			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)					ACAGAGCCAGGCATGAGTCTG	0.428																																						ENST00000250617.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				38						c.(148-150)Cct>Tct		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							173.0	163.0	166.0					X																	135862894		2203	4300	6503	SO:0001583	missense	9459	0	0					g.chrX:135862894G>A	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.148C>T	chrX.hg19:g.135862894G>A	ENSP00000250617:p.Pro50Ser							p.P50S	NM_004840.2	NP_004831.1	0	1	1		Q15052	ARHG6_HUMAN		1	1353	-	Acute lymphoblastic leukemia(192;0.000127)		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	1	1	hg19	c.148C>T	CCDS14660.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039400	0.75617	.	.	ENSG00000129675	ENST00000250617	D	0.97352	-4.35	5.91	5.91	0.95273	5.91	5.91	0.95273	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.90082	3.085	0.80722	D	1	P	0.45569	0.861	P	0.54856	0.762	D	0.98971	1.0801	10	0.62326	D	0.03	.	19.2692	0.94002	0.0:0.0:1.0:0.0	.	50	Q15052	ARHG6_HUMAN	S	50	ENSP00000250617:P50S	ENSP00000250617:P50S	P	-	1	0	0	ARHGEF6	135690560	135690560	1.000000	0.71417	0.986000	0.45419	0.708000	0.40852	7.652000	0.83633	2.502000	0.84385	0.436000	0.28706	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	1	0	1		2	2	2	0		0	0	222		222	222	1	2.060000	-20.000000	1	0.170000	NM_004840			210	210		712	697	1		1	0		0	0	222	0		1	9.953844e-01	0	0	0	30	0	210	712
CDR1	1038	broad.mit.edu	37	X	139866020	139866020	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:139866020A>C	ENST00000370532.2	-	1	703	c.512T>G	c.(511-513)tTt>tGt	p.F171C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	171	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCTTCCAGAAAATCCACGTCT	0.428																																						ENST00000370532.2	0.260000	0.100000	2.200000e-01	1.300000e-01	0.170000	0.179748	0.170000	0.170000																										0				25						c.(511-513)tTt>tGt		cerebellar degeneration-related protein 1, 34kDa							146.0	150.0	149.0					X																	139866020		2203	4300	6503	SO:0001583	missense	1038	0	0					g.chrX:139866020A>C		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.512T>G	chrX.hg19:g.139866020A>C	ENSP00000359563:p.Phe171Cys							p.F171C	NM_004065.2	NP_004056.2	0	1	1		P51861	CDR1_HUMAN		1	703	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	0	1	hg19	c.512T>G	CCDS14670.1	0	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543151	0.45280	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	-0.12	0.13539	4.07	-0.12	0.13539	.	.	.	.	.	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.13124	-1.0521	7	.	.	.	.	3.87	0.09033	0.6586:0.0:0.1693:0.1721	.	171	P51861	CDR1_HUMAN	C	171	.	.	F	-	2	0	0	CDR1	139693686	139693686	0.018000	0.18449	0.004000	0.12327	0.269000	0.26545	1.299000	0.33424	0.100000	0.17581	0.242000	0.17961	TTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	0	0	1		2	2	2	0		0	0	283		283	283	1	2.060000	-3.142808	1	0.170000	NM_004065			19	18		1283	1243	0		1	0		0	0	283	0		9.999866e-01	2.468091e-04	0	0	0	2	0	19	1283
GEMIN8	54960	broad.mit.edu	37	X	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	64					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498																																						ENST00000380523.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(190-192)agC>agA		gem (nuclear organelle) associated protein 8							131.0	114.0	120.0					X																	14038477		2203	4300	6503	SO:0001583	missense	54960	0	0					g.chrX:14038477G>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.192C>A	chrX.hg19:g.14038477G>T	ENSP00000369895:p.Ser64Arg						GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	p.S64R	NM_017856.2	NP_060326.1	0	1	1		Q9NWZ8	GEMI8_HUMAN		4	510	-			C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	1	1	hg19	c.192C>A	CCDS14159.1	1	.	.	.	.	.	.	.	.	.	.	g	8.948	0.967554	0.18659	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.15	3.35	0.38373	5.15	3.35	0.38373	.	0.471114	0.25978	N	0.027094	T	0.31167	0.0788	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.13229	-1.0517	10	0.33940	T	0.23	.	3.0956	0.06308	0.1643:0.1332:0.5638:0.1387	.	64	Q9NWZ8	GEMI8_HUMAN	R	64	ENSP00000369895:S64R;ENSP00000381398:S64R;ENSP00000369894:S64R	ENSP00000369894:S64R	S	-	3	2	2	GEMIN8	13948398	13948398	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.217000	0.09253	0.975000	0.38392	-0.306000	0.09157	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	1	0	1		2	2	2	0		0	0	139		139	138	1	2.060000	-20.000000	1	0.170000	NM_017856			140	138		489	477	1		1	1		0	0	139	0		1	9.999998e-01	0	33	0	44	0	140	489
LDOC1	23641	broad.mit.edu	37	X	140270770	140270770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	ENST00000370526.2	-	1	540	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	RP3-507I15.2_ENST00000566241.1_RNA|LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	146					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGGCCTAATAATCATCCTC	0.647																																						ENST00000370526.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000																										0				14						c.(436-438)tAt>tGt		leucine zipper, down-regulated in cancer 1							55.0	36.0	43.0					X																	140270770		2203	4297	6500	SO:0001583	missense	23641	0	0					g.chrX:140270770T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.437A>G	chrX.hg19:g.140270770T>C	ENSP00000359557:p.Tyr146Cys						RP3-507I15.2_ENST00000566241.1_RNA|LDOC1_ENST00000460721.1_Intron	p.Y146C	NM_012317.2	NP_036449.1	0	1	1		O95751	LDOC1_HUMAN		1	540	-	Acute lymphoblastic leukemia(192;7.65e-05)		Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	1	1	hg19	c.437A>G	CCDS14672.1	1	.	.	.	.	.	.	.	.	.	.	.	2.122	-0.401183	0.04865	.	.	ENSG00000182195	ENST00000370526	T	0.22945	1.93	3.67	2.47	0.30058	3.67	2.47	0.30058	.	0.481200	0.15306	U	0.269334	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.13764	-1.0497	10	0.87932	D	0	.	5.4737	0.16684	0.251:0.0:0.0:0.749	.	146	O95751	LDOC1_HUMAN	C	146	ENSP00000359557:Y146C	ENSP00000359557:Y146C	Y	-	2	0	0	LDOC1	140098436	140098436	0.982000	0.34865	0.308000	0.25141	0.003000	0.03518	0.671000	0.25172	0.573000	0.29400	0.237000	0.17872	TAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_012317			26	26		114	111	0		1	0		0	0	26	0		1	5.279219e-01	0	0	0	9	0	26	114
MAGEC3	139081	broad.mit.edu	37	X	140969366	140969366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					AAGCCCGTGAGTTCATAGAGA	0.443																																						ENST00000298296.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(691-693)gaG>gaA		melanoma antigen family C, 3							154.0	138.0	143.0					X																	140969366		2203	4300	6503	SO:0001819	synonymous_variant	139081	0	0					g.chrX:140969366G>A	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.693G>A	chrX.hg19:g.140969366G>A							MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	p.E231E	NM_138702.1	NP_619647.1	0	1	1		Q8TD91	MAGC3_HUMAN		4	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	1	1	hg19	c.693G>A	CCDS14676.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	1	0	1		2	2	2	0		0	0	167		167	165	1	2.060000	-20.000000	1	0.170000	NM_138702			154	150		570	564	1		1			0	0	167	0		1	0	0	0	0	0	0	154	570
MAGEC3	139081	broad.mit.edu	37	X	140985426	140985426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000298296.1	+	8	1740	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	580	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					CCATTCAGAGGCCAGCAAGAG	0.468																																						ENST00000298296.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(1738-1740)agG>agA		melanoma antigen family C, 3							67.0	69.0	69.0					X																	140985426		2203	4300	6503	SO:0001819	synonymous_variant	139081	0	0					g.chrX:140985426G>A	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.1740G>A	chrX.hg19:g.140985426G>A							MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T	p.R580R	NM_138702.1	NP_619647.1	0	1	1		Q8TD91	MAGC3_HUMAN		8	1740	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	1	1	hg19	c.1740G>A	CCDS14676.1	1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.000581	0.00431	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	1.25	-0.779	0.10973	1.25	-0.779	0.10973	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.44742	-0.9308	8	0.02654	T	1	.	3.1264	0.06408	0.6987:0.0:0.3013:0.0	.	330	Q3SYA7	.	T	330;250;330;330	ENSP00000441107:A330T;ENSP00000438254:A250T;ENSP00000440444:A330T;ENSP00000386566:A330T	ENSP00000386566:A330T	A	+	1	0	0	MAGEC3	140813092	140813092	0.002000	0.14202	0.038000	0.18304	0.018000	0.09664	0.015000	0.13355	-0.094000	0.12374	-0.739000	0.03532	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	1	0	1		2	2	2	0		0	0	126		126	126	1	2.060000	-20.000000	1	0.170000	NM_138702			122	117		429	422	1		1			0	0	126	0		1	0	0	0	0	0	0	122	429
MAGEC1	9947	broad.mit.edu	37	X	140994053	140994053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	288										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)					CAGAGTTCCCCTGAGAGAACT	0.488										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(862-864)cCt>cAt		melanoma antigen family C, 1							104.0	96.0	99.0					X																	140994053		2201	4274	6475	SO:0001583	missense	9947	0	0					g.chrX:140994053C>A	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.863C>A	chrX.hg19:g.140994053C>A	ENSP00000285879:p.Pro288His		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P288H	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	1149	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	1	1	hg19	c.863C>A	CCDS35417.1	1	.	.	.	.	.	.	.	.	.	.	c	5.342	0.248409	0.10130	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.14893	3.24;2.47	.	.	.	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28427	-1.0044	8	0.39692	T	0.17	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	288	O60732	MAGC1_HUMAN	H	288;90;89	ENSP00000285879:P288H;ENSP00000359542:P90H	ENSP00000285879:P288H	P	+	2	0	0	MAGEC1	140821719	140821719	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	-0.143000	0.10296	0.148000	0.19059	0.150000	0.16122	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		2	2	2	0		0	0	244		244	226	1	2.060000	-13.500160	1	0.170000	NM_005462			276	270		688	550	1		1			0	0	244	0		1	0	0	0	0	0	0	276	688
MAGEC1	9947	broad.mit.edu	37	X	140994195	140994195	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335										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)					GTTTTCCCCAGTCTCTTCTCC	0.458										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(1003-1005)caG>caT		melanoma antigen family C, 1							119.0	121.0	120.0					X																	140994195		2202	4296	6498	SO:0001583	missense	9947	0	0					g.chrX:140994195G>T	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.1005G>T	chrX.hg19:g.140994195G>T	ENSP00000285879:p.Gln335His		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q335H	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	1291	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	1	1	hg19	c.1005G>T	CCDS35417.1	1	.	.	.	.	.	.	.	.	.	.	g	1.900	-0.453329	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.40806	D	0.983384	P	0.50156	0.932	B	0.37144	0.242	T	0.67684	-0.5607	8	0.87932	D	0	.	5.9409	0.19192	6.0E-4:0.0:0.9994:0.0	.	335	O60732	MAGC1_HUMAN	H	335	ENSP00000285879:Q335H	ENSP00000285879:Q335H	Q	+	3	2	2	MAGEC1	140821861	140821861	0.347000	0.24853	0.136000	0.22124	0.136000	0.21042	1.465000	0.35299	0.148000	0.19059	0.150000	0.16122	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		2	2	2	0		0	0	322		322	322	1	2.060000	-20.000000	1	0.170000	NM_005462			291	282		933	890	1		1			0	0	322	0		1	0	0	0	0	0	0	291	933
MAGEC1	9947	broad.mit.edu	37	X	140994977	140994977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	596										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)					CACTACTTTCCTCAGAGCCCT	0.577										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(1786-1788)cCt>cTt		melanoma antigen family C, 1							223.0	238.0	233.0					X																	140994977		2203	4300	6503	SO:0001583	missense	9947	0	0					g.chrX:140994977C>T	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.1787C>T	chrX.hg19:g.140994977C>T	ENSP00000285879:p.Pro596Leu		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P596L	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	2073	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	1	1	hg19	c.1787C>T	CCDS35417.1	1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187076	0.38609	.	.	ENSG00000155495	ENST00000285879	T	0.15139	2.45	0.96	0.96	0.19631	0.96	0.96	0.19631	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.09552	-1.0669	9	0.87932	D	0	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	596	O60732	MAGC1_HUMAN	L	596	ENSP00000285879:P596L	ENSP00000285879:P596L	P	+	2	0	0	MAGEC1	140822643	140822643	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.017000	0.12590	0.187000	0.20147	0.190000	0.17370	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		2	2	2	0		0	0	574		574	562	1	2.060000	-20.000000	1	0.170000	NM_005462			441	432		1589	1541	1		1			0	0	574	0		1	0	0	0	0	0	0	441	1589
MAGEC1	9947	broad.mit.edu	37	X	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	899										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)					GTCCTTGATAGAGAGCGAGCC	0.478										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(2695-2697)Gag>Tag		melanoma antigen family C, 1							171.0	173.0	172.0					X																	140995885		2203	4300	6503	SO:0001587	stop_gained	9947	0	0					g.chrX:140995885G>T	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.2695G>T	chrX.hg19:g.140995885G>T	ENSP00000285879:p.Glu899*		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_5'UTR	p.E899*	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	2981	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	0	1	hg19	c.2695G>T	CCDS35417.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.161445	0.97338	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	0.437	0.16555	1.38	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.3967	0.07308	0.2958:0.0:0.7042:0.0	.	.	.	.	X	899	.	ENSP00000285879:E899X	E	+	1	0	0	MAGEC1	140823551	140823551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.199000	0.17237	0.084000	0.17077	0.279000	0.19357	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		15	2	2	0		0	1	311		311	308	1	2.060000	-20.000000	1	0.170000	NM_005462			247	245		970	960	1		1			0	0	311	0		1	0	0	0	0	0	0	247	970
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	G	A	rs368536858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					AGATGCTGACGAATGTCATCA	0.468										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(2806-2808)acG>acA		melanoma antigen family C, 1		G		0,3835		0,0,0,1632,571	156.0	145.0	149.0		2808	-0.2	0.0	X		149	1,6727		0,0,1,2428,1871	no	coding-synonymous	MAGEC1	NM_005462.4		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		936/1143	140995998	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9947	4	121410	37				g.chrX:140995998G>A	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.2808G>A	chrX.hg19:g.140995998G>A			HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.T3T	p.T936T	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	3094	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	1	1	hg19	c.2808G>A	CCDS35417.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		2	2	2	0		0	0	243		243	241	1	2.060000	-20.000000	1	0.170000	NM_005462			207	205		794	784	1		1			0	0	243	0		1	0	0	0	0	0	0	207	794
MAGEC1	9947	broad.mit.edu	37	X	140996169	140996169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	993	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					ATGAGCAGGGCATGTCCCAGA	0.483										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				127						c.(2977-2979)ggC>ggT		melanoma antigen family C, 1							104.0	96.0	99.0					X																	140996169		2203	4300	6503	SO:0001819	synonymous_variant	9947	0	0					g.chrX:140996169C>T	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.2979C>T	chrX.hg19:g.140996169C>T			HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.G60G	p.G993G	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	3265	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	1	1	hg19	c.2979C>T	CCDS35417.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1		2	2	2	0		0	0	143		143	141	1	2.060000	-20.000000	1	0.170000	NM_005462			142	141		543	529	1		1			0	0	143	0		1	0	0	0	0	0	0	142	543
SLITRK4	139065	broad.mit.edu	37	X	142716967	142716967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	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	653						integral component of membrane (GO:0016021)				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)					CAGGCCTTCGTGCTTCACTGT	0.448																																						ENST00000381779.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1957-1959)cAc>cGc		SLIT and NTRK-like family, member 4							111.0	113.0	112.0					X																	142716967		2203	4300	6503	SO:0001583	missense	139065	0	0					g.chrX:142716967T>C	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.1958A>G	chrX.hg19:g.142716967T>C	ENSP00000371198:p.His653Arg						SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	p.H653R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	0	1	1		Q8IW52	SLIK4_HUMAN		2	2183	-	Acute lymphoblastic leukemia(192;6.56e-05)		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	1	1	hg19	c.1958A>G	CCDS14679.1	1	.	.	.	.	.	.	.	.	.	.	T	4.134	0.023160	0.08006	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.066272	0.64402	U	0.000009	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.13791	-1.0496	10	0.15952	T	0.53	-10.4493	13.1266	0.59358	0.0:0.0:0.0:1.0	.	653	Q8IW52	SLIK4_HUMAN	R	653	ENSP00000371198:H653R;ENSP00000349400:H653R;ENSP00000336627:H653R	ENSP00000336627:H653R	H	-	2	0	0	SLITRK4	142544633	142544633	1.000000	0.71417	0.910000	0.35882	0.933000	0.57130	6.298000	0.72763	1.781000	0.52344	0.417000	0.27973	CAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	1	0	1		2	2	2	0		0	0	175		175	174	1	2.060000	-20.000000	1	0.170000	NM_173078			166	165		643	633	1		1	0		0	0	175	0		1	1.098501e-01	0	0	0	3	0	166	643
SLITRK4	139065	broad.mit.edu	37	X	142717676	142717676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	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	417						integral component of membrane (GO:0016021)				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)					ACGTCTCCCTTAATCACTGTA	0.383																																						ENST00000381779.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(1249-1251)Aag>Gag		SLIT and NTRK-like family, member 4							133.0	113.0	120.0					X																	142717676		2203	4300	6503	SO:0001583	missense	139065	0	0					g.chrX:142717676T>C	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.1249A>G	chrX.hg19:g.142717676T>C	ENSP00000371198:p.Lys417Glu						SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	p.K417E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	0	1	1		Q8IW52	SLIK4_HUMAN		2	1474	-	Acute lymphoblastic leukemia(192;6.56e-05)		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	1	1	hg19	c.1249A>G	CCDS14679.1	1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154735	0.21371	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50001	0.76;0.76;0.76	5.29	4.09	0.47781	5.29	4.09	0.47781	.	0.172029	0.47852	D	0.000218	T	0.18841	0.0452	N	0.01817	-0.705	0.35030	D	0.758698	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.10902	T	0.67	-12.1744	9.6744	0.40032	0.0:0.0:0.3327:0.6672	.	417	Q8IW52	SLIK4_HUMAN	E	417	ENSP00000371198:K417E;ENSP00000349400:K417E;ENSP00000336627:K417E	ENSP00000336627:K417E	K	-	1	0	0	SLITRK4	142545342	142545342	1.000000	0.71417	0.885000	0.34714	0.972000	0.66771	1.931000	0.40134	0.718000	0.32166	0.437000	0.28790	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	1	0	1		2	2	2	0		0	0	149		149	147	1	2.060000	-20.000000	1	0.170000	NM_173078			123	122		397	389	1		1	0		0	0	149	0		1	4.358551e-01	0	0	0	6	0	123	397
GLRA2	2742	broad.mit.edu	37	X	14548183	14548183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	2					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AACAGGAATGAACCGGCAGCT	0.378																																						ENST00000218075.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(4-6)Aac>Gac		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)						119.0	104.0	109.0					X																	14548183		2203	4300	6503	SO:0001583	missense	2742	0	0					g.chrX:14548183A>G		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.4A>G	chrX.hg19:g.14548183A>G	ENSP00000218075:p.Asn2Asp						GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	p.N2D	NM_002063.3	NP_002054.1	0	1	1		P23416	GLRA2_HUMAN		1	534	+	Hepatocellular(33;0.128)		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	1	1	hg19	c.4A>G	CCDS14160.1	1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609106	0.28623	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	T;T	0.79141	-1.24;-1.24	5.47	4.28	0.50868	5.47	4.28	0.50868	.	0.080983	0.52532	D	0.000071	T	0.67116	0.2859	N	0.08118	0	0.80722	D	1	P;P	0.49696	0.88;0.927	P;P	0.56563	0.636;0.801	T	0.62053	-0.6935	10	0.07644	T	0.81	.	10.5663	0.45175	0.8539:0.0:0.0:0.1461	.	2;2	P23416;P23416-2	GLRA2_HUMAN;.	D	2	ENSP00000218075:N2D;ENSP00000347123:N2D	ENSP00000218075:N2D	N	+	1	0	0	GLRA2	14458104	14458104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	0.777000	0.33496	0.441000	0.28932	AAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1	1	0	1		2	2	2	0		0	0	107		107	105	1	2.060000	-20.000000	1	0.170000				95	95		341	337	1		1			0	0	107	0		1	0	0	0	0	0	0	95	341
GLRA2	2742	broad.mit.edu	37	X	14625300	14625300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	209					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAGTGATGGTCCAGTGCAAGT	0.403																																						ENST00000218075.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(625-627)Cca>Aca		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)						171.0	153.0	159.0					X																	14625300		2203	4300	6503	SO:0001583	missense	2742	0	0					g.chrX:14625300C>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.625C>A	chrX.hg19:g.14625300C>A	ENSP00000218075:p.Pro209Thr						GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	p.P209T	NM_002063.3	NP_002054.1	0	1	1		P23416	GLRA2_HUMAN		6	1155	+	Hepatocellular(33;0.128)		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	1	1	hg19	c.625C>A	CCDS14160.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009569	0.75046	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.58	5.58	0.84498	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.143817	0.64402	D	0.000005	D	0.84392	0.5462	M	0.62723	1.935	0.58432	D	0.999999	P;P;P	0.43024	0.798;0.643;0.736	P;B;P	0.52823	0.595;0.188;0.71	D	0.85646	0.1279	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	193;209;209	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	120;209;209;193	ENSP00000387756:P120T;ENSP00000218075:P209T;ENSP00000347123:P209T;ENSP00000391606:P193T	ENSP00000218075:P209T	P	+	1	0	0	GLRA2	14535221	14535221	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	2.720000	0.47252	2.471000	0.83476	0.600000	0.82982	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1	1	0	1		2	2	2	0		0	0	149		149	148	1	2.060000	-20.000000	1	0.170000				125	122		459	453	1		1			0	0	149	0		1	0	0	0	0	0	0	125	459
SLITRK2	84631	broad.mit.edu	37	X	144906288	144906288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:144906288G>A	ENST00000370490.1	+	1	6600	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	782					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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)					TTACCTAAAAGGCAGTTTGCC	0.458																																						ENST00000370490.1	0.610000	0.300000	5.300000e-01	3.700000e-01	0.440000	0.455349	0.440000	0.440000																										0				86						c.(2344-2346)aGg>aAg		SLIT and NTRK-like family, member 2							140.0	129.0	132.0					X																	144906288		2203	4300	6503	SO:0001583	missense	84631	0	0					g.chrX:144906288G>A	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.2345G>A	chrX.hg19:g.144906288G>A	ENSP00000359521:p.Arg782Lys						SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|TMEM257_ENST00000408967.2_5'Flank	p.R782K			0	1	1		Q9H156	SLIK2_HUMAN		1	6600	+	Acute lymphoblastic leukemia(192;6.56e-05)		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	1	1	hg19	c.2345G>A	CCDS14680.1	0	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934289	0.34096	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.103397	0.64402	D	0.000004	T	0.33789	0.0875	N	0.22421	0.69	0.43879	D	0.996496	B	0.09022	0.002	B	0.04013	0.001	T	0.13098	-1.0522	10	0.15066	T	0.55	-2.9919	15.4932	0.75629	0.0:0.0:1.0:0.0	.	782	Q9H156	SLIK2_HUMAN	K	782	ENSP00000411681:R782K;ENSP00000359521:R782K;ENSP00000397015:R782K;ENSP00000407347:R782K;ENSP00000412010:R782K	ENSP00000359521:R782K	R	+	2	0	0	SLITRK2	144713980	144713980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.352000	0.66028	2.251000	0.74343	0.600000	0.82982	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	0	0	1		2	2	2	0		0	0	185		185	184	1	2.060000	-3.618371	1	0.170000	NM_032539			30	30		764	744	0		1			0	0	185	0		1	0	0	0	0	0	0	30	764
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000370475.4	+	14	1489	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	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.R454P(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)					CCACCAAATCGTACAGATAAG	0.448									Fragile X syndrome																													ENST00000370475.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R454P(1)	lung(1)	35						c.(1360-1362)cGt>cAt		fragile X mental retardation 1							183.0	158.0	166.0					X																	147024736		2203	4300	6503	SO:0001583	missense	2332	0	0		Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	g.chrX:147024736G>A	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.1361G>A	chrX.hg19:g.147024736G>A	ENSP00000359506:p.Arg454His						FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H	p.R454H	NM_002024.5	NP_002015.1	0	1	1		Q06787	FMR1_HUMAN		14	1489	+	Acute lymphoblastic leukemia(192;6.56e-05)		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	1	1	hg19	c.1361G>A	CCDS14682.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263875	0.80358	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.91635	0.993;0.999;0.995;0.904;0.997	T	0.54892	-0.8225	10	0.37606	T	0.19	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	433;433;454;431;454;101	ENSP00000218200:R433H;ENSP00000359508:R433H;ENSP00000359506:R454H;ENSP00000395923:R431H;ENSP00000359501:R454H;ENSP00000413764:R101H	ENSP00000218200:R433H	R	+	2	0	0	FMR1	146832428	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.448	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	0	0	1		2	2	2	0		0	0	139		139	139	1	2.060000	-20.000000	1	0.170000	NM_002024			136	135		499	488	1		1	1		0	0	139	0		1	1	0	44	0	47	0	136	499
FMR1	2332	broad.mit.edu	37	X	147026464	147026464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000370475.4	+	15	1675	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Splice_Site_p.L426I|FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	516	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)			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)					TGGTCATTAGCTCCAACAGAG	0.507									Fragile X syndrome																													ENST00000370475.4	1.000000	0.430000	1	6.500000e-01	0.930000	0.858699	0.930000	1.000000																										0				35						c.(1546-1548)gCt>gAt		fragile X mental retardation 1							64.0	57.0	60.0					X																	147026464		2203	4300	6503	SO:0001583	missense	2332	1	121380	28	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	g.chrX:147026464C>A	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.1547C>A	chrX.hg19:g.147026464C>A	ENSP00000359506:p.Ala516Asp						FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000370471.3_Splice_Site_p.L426I|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1-IT1_ENST00000441414.1_RNA	p.A516D	NM_002024.5	NP_002015.1	0	1	1		Q06787	FMR1_HUMAN		15	1675	+	Acute lymphoblastic leukemia(192;6.56e-05)		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	1	1	hg19	c.1547C>A	CCDS14682.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.511002|3.511002	0.64522|0.64522	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.38077|0.55413	1.16;1.16;1.16;1.16;1.5;1.16|0.52	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.999;0.998|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|7	0.23891|0.66056	T|D	0.37|0.02	-30.7702|-30.7702	17.5377|17.5377	0.87837|0.87837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;516;411;470;493|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	D|I	495;483;516;493;491;163|426	ENSP00000218200:A495D;ENSP00000359508:A483D;ENSP00000359506:A516D;ENSP00000395923:A493D;ENSP00000359501:A491D;ENSP00000413764:A163D|ENSP00000359502:L426I	ENSP00000218200:A495D|ENSP00000359502:L426I	A|L	+|+	2|1	0|0	0|0	FMR1|FMR1	146834156|146834156	146834156|146834156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.612000|0.612000	0.37316|0.37316	7.218000|7.218000	0.77991|0.77991	2.357000|2.357000	0.79964|0.79964	0.506000|0.506000	0.49869|0.49869	GCT|CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	0	0	1		2	2	2	0		0	0	37		37	37	1	2.060000	-11.928880	1	0.170000	NM_002024			7	7		82	78	1		1	1		0	0	37	0		9.788031e-01	9.976075e-01	0	30	0	114	0	7	82
FMR1NB	158521	broad.mit.edu	37	X	147063094	147063094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	ENST00000370467.3	+	1	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	58						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGATGGCGGGAATCTCT	0.557																																						ENST00000370467.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(172-174)Cgg>Tgg		fragile X mental retardation 1 neighbor							105.0	96.0	99.0					X																	147063094		2203	4300	6503	SO:0001583	missense	158521	1	121410	34				g.chrX:147063094C>T		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.172C>T	chrX.hg19:g.147063094C>T	ENSP00000359498:p.Arg58Trp							p.R58W	NM_152578.2	NP_689791.1	0	1	1		Q8N0W7	FMR1N_HUMAN		1	246	+	Acute lymphoblastic leukemia(192;6.56e-05)		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	1	1	hg19	c.172C>T	CCDS14683.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901792	0.33535	.	.	ENSG00000176988	ENST00000370467	T	0.46819	0.86	1.91	0.998	0.19857	1.91	0.998	0.19857	.	.	.	.	.	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.18209	-1.0344	9	0.45353	T	0.12	-0.0892	5.054	0.14524	0.35:0.65:0.0:0.0	.	58	Q8N0W7	FMR1N_HUMAN	W	58	ENSP00000359498:R58W	ENSP00000359498:R58W	R	+	1	2	2	FMR1NB	146870786	146870786	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.401000	0.07232	0.268000	0.21939	0.552000	0.68991	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	0	0	1		13	2	2	1		1	1	121		121	120	1	2.060000	-3.916554	1	0.170000	NM_152578			92	89		326	317	0		1			1	0	121	0		1	0	0	0	0	0	0	92	326
AFF2	2334	broad.mit.edu	37	X	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	282					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)			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)					AAGCATGGGGCAGCAAAAGCC	0.507																																						ENST00000370460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(844-846)Cag>Tag		AF4/FMR2 family, member 2							93.0	91.0	92.0					X																	147744092		2203	4300	6503	SO:0001587	stop_gained	2334	0	0					g.chrX:147744092C>T	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.844C>T	chrX.hg19:g.147744092C>T	ENSP00000359489:p.Gln282*						AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*	p.Q282*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		3	1323	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	0	1	hg19	c.844C>T	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.387678	0.99156	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;278;278	.	ENSP00000345459:Q278X	Q	+	1	0	0	AFF2	147551784	147551784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.389000	0.81357	0.600000	0.82982	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	156		156	155	1	2.060000	-20.000000	1	0.170000	NM_002025			158	154		488	472	0		1	0		0	0	156	0		1	1.506701e-01	0	0	0	3	0	158	488
AFF2	2334	broad.mit.edu	37	X	148035155	148035155	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000370457.5_Silent_p.S448S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	481					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)			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)					TGCAAGCCAGCGGGGGTTCTG	0.522																																						ENST00000370460.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999726	0.990000	1.000000																										0				109						c.(1441-1443)agC>agT		AF4/FMR2 family, member 2							85.0	88.0	87.0					X																	148035155		2203	4300	6503	SO:0001819	synonymous_variant	2334	0	0					g.chrX:148035155C>T	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.1443C>T	chrX.hg19:g.148035155C>T							AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S	p.S481S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		10	1922	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	1	1	hg19	c.1443C>T	CCDS14684.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	189		189	187	1	2.060000	-20.000000	1	0.170000	NM_002025			85	83		685	675	1		1	0		0	0	189	0		1	0	0	0	0	1	0	85	685
AFF2	2334	broad.mit.edu	37	X	148049205	148049205	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1084					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)			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)					GAAGCTGAAGCACAAAGCTGA	0.338																																						ENST00000370460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(3250-3252)Cac>Tac		AF4/FMR2 family, member 2							167.0	151.0	156.0					X																	148049205		2203	4300	6503	SO:0001583	missense	2334	0	0					g.chrX:148049205C>T	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.3250C>T	chrX.hg19:g.148049205C>T	ENSP00000359489:p.His1084Tyr						AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y	p.H1084Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		15	3729	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	1	1	hg19	c.3250C>T	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585519	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.978;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.98;0.991;0.997;0.997;0.998	D	0.85895	0.1431	10	0.72032	D	0.01	.	19.1178	0.93348	0.0:1.0:0.0:0.0	.	725;1049;1049;1045;1074;1084	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1084;1049;1051;725	ENSP00000359489:H1084Y;ENSP00000359486:H1049Y;ENSP00000345459:H1051Y;ENSP00000286437:H725Y	ENSP00000286437:H725Y	H	+	1	0	0	AFF2	147856899	147856899	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.783000	0.85696	2.465000	0.83290	0.594000	0.82650	CAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_002025			67	66		223	223	1		1	0		0	0	68	0		1	1.384089e-01	0	0	0	3	0	67	223
AFF2	2334	broad.mit.edu	37	X	148069061	148069061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1263					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)			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)					TGGGATATGGCCGACAAACTG	0.478																																						ENST00000370460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(3787-3789)gCc>gTc		AF4/FMR2 family, member 2							195.0	151.0	166.0					X																	148069061		2203	4300	6503	SO:0001583	missense	2334	0	0					g.chrX:148069061C>T	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.3788C>T	chrX.hg19:g.148069061C>T	ENSP00000359489:p.Ala1263Val						AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V	p.A1263V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		20	4267	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	1	1	hg19	c.3788C>T	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.511101	0.96386	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.998;0.998;0.999	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	904;1228;1228;1224;1253;1263	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1263;1228;1230;904	ENSP00000359489:A1263V;ENSP00000359486:A1228V;ENSP00000345459:A1230V;ENSP00000286437:A904V	ENSP00000286437:A904V	A	+	2	0	0	AFF2	147876767	147876767	1.000000	0.71417	0.955000	0.39395	0.912000	0.54170	7.786000	0.85741	2.423000	0.82170	0.600000	0.82982	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	160		160	157	1	2.060000	-20.000000	1	0.170000	NM_002025			81	78		380	376	1		1	0		0	0	160	0		1	8.326073e-02	0	0	0	3	0	81	380
AFF2	2334	broad.mit.edu	37	X	148072854	148072854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000286437.5_Missense_Mutation_p.L951V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1310					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)			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)					CGATGCCCACTTGTTGTAGTG	0.562																																						ENST00000370460.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(3928-3930)Ttg>Gtg		AF4/FMR2 family, member 2							224.0	148.0	174.0					X																	148072854		2203	4300	6503	SO:0001583	missense	2334	0	0					g.chrX:148072854T>G	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.3928T>G	chrX.hg19:g.148072854T>G	ENSP00000359489:p.Leu1310Val						AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V	p.L1310V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		21	4407	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	1	1	hg19	c.3928T>G	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195460	0.58126	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;D	0.82167	-0.89;-1.16;-1.16;-1.58	5.46	2.74	0.32292	5.46	2.74	0.32292	.	0.000000	0.56097	D	0.000021	D	0.86293	0.5898	L	0.47716	1.5	0.42839	D	0.994048	B;P;B;D;D;D	0.89917	0.361;0.526;0.342;1.0;1.0;0.999	B;P;B;D;D;D	0.83275	0.235;0.825;0.367;0.996;0.996;0.991	D	0.85580	0.1239	10	0.66056	D	0.02	.	9.8601	0.41109	0.0:0.1681:0.0:0.8319	.	951;1275;1275;1271;1300;1310	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1310;1275;1277;951	ENSP00000359489:L1310V;ENSP00000359486:L1275V;ENSP00000345459:L1277V;ENSP00000286437:L951V	ENSP00000286437:L951V	L	+	1	2	2	AFF2	147880560	147880560	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.860000	0.48372	0.718000	0.32166	-0.330000	0.08379	TTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	0	1		2	2	2	0		0	0	156		156	156	1	2.060000	-20.000000	1	0.170000	NM_002025			165	165		542	536	1		1	0		0	0	156	0		1	0	0	0	0	1	0	165	542
MAGEA11	4110	broad.mit.edu	37	X	148797776	148797776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797776C>T	ENST00000355220.5	+	5	732	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MAGEA11_ENST00000333104.4_Silent_p.D181D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCGCCTGACCTGATAGACC	0.488																																						ENST00000355220.5	0.400000	0.130000	3.300000e-01	1.800000e-01	0.240000	0.260625	0.240000	0.240000																										0				9						c.(628-630)gaC>gaT		melanoma antigen family A, 11							107.0	102.0	104.0					X																	148797776		2203	4300	6503	SO:0001819	synonymous_variant	4110	0	0					g.chrX:148797776C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.630C>T	chrX.hg19:g.148797776C>T							MAGEA11_ENST00000333104.4_Silent_p.D181D	p.D210D	NM_005366.4	NP_005357.2	0	1	1		P43364	MAGAB_HUMAN		5	732	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	0	1	hg19	c.630C>T	CCDS48180.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	0	0	1		2	2	2	0		0	0	141		141	138	1	2.060000	-10.437380	1	0.170000	NM_005366			13	13		612	602	0		1			0	0	141	0		9.994852e-01	0	0	0	0	0	0	13	612
FANCB	2187	broad.mit.edu	37	X	14883249	14883249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000324138.3	-	2	537	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000398334.1_Silent_p.Y128Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	128					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCTTCATCTCATAGCCTAGTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000324138.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(382-384)taT>taC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							42.0	41.0	41.0					X																	14883249		2203	4299	6502	SO:0001819	synonymous_variant	2187	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chrX:14883249A>G	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.384T>C	chrX.hg19:g.14883249A>G							FANCB_ENST00000398334.1_Silent_p.Y128Y	p.Y128Y	NM_152633.2	NP_689846.1	0	1	1		Q8NB91	FANCB_HUMAN		2	537	-	Hepatocellular(33;0.183)		B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	1	1	hg19	c.384T>C	CCDS14161.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	1	0	1		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_152633			66	65		157	154	1		1	0		0	0	53	0		1	0	0	0	0	1	0	66	157
MAGEA11	4110	broad.mit.edu	37	X	148797891	148797891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413																																						ENST00000355220.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				9						c.(745-747)Ctg>Atg		melanoma antigen family A, 11							108.0	110.0	109.0					X																	148797891		2203	4300	6503	SO:0001583	missense	4110	0	0					g.chrX:148797891C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.745C>A	chrX.hg19:g.148797891C>A	ENSP00000347358:p.Leu249Met						MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	p.L249M	NM_005366.4	NP_005357.2	0	1	1		P43364	MAGAB_HUMAN		5	847	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	1	1	hg19	c.745C>A	CCDS48180.1	1	.	.	.	.	.	.	.	.	.	.	N	8.490	0.861790	0.17178	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06068	3.35;3.35;3.35	0.976	0.0829	0.14431	0.976	0.0829	0.14431	.	.	.	.	.	T	0.18341	0.0440	M	0.80028	2.48	0.09310	N	1	D;D	0.63880	0.984;0.993	P;D	0.66196	0.904;0.942	T	0.09530	-1.0670	9	0.59425	D	0.04	.	3.3012	0.06984	0.0:0.6881:0.0:0.3119	.	220;249	G5E962;P43364	.;MAGAB_HUMAN	M	220;220;249	ENSP00000391496:L220M;ENSP00000328177:L220M;ENSP00000347358:L249M	ENSP00000328177:L220M	L	+	1	2	2	MAGEA11	148576514	148576514	0.432000	0.25554	0.004000	0.12327	0.059000	0.15707	-0.191000	0.09601	-0.041000	0.13558	-0.426000	0.05927	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	1	0	1		2	2	2	0		0	0	212		212	211	1	2.060000	-20.000000	1	0.170000	NM_005366			146	144		563	551	1		1			0	0	212	0		1	0	0	0	0	0	0	146	563
MAGEA8	4107	broad.mit.edu	37	X	149013843	149013843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000542674.1	+	3	1318	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	266	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCCCGGCAGTGATCCT	0.572																																						ENST00000542674.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(796-798)gGc>gAc		melanoma antigen family A, 8							112.0	106.0	108.0					X																	149013843		2203	4298	6501	SO:0001583	missense	4107	2	121400	36				g.chrX:149013843G>A		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.797G>A	chrX.hg19:g.149013843G>A	ENSP00000443776:p.Gly266Asp						MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D	p.G266D	NM_001166401.1	NP_001159873.1	0	1	1		P43361	MAGA8_HUMAN		3	1318	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	1	1	hg19	c.797G>A	CCDS14692.1	1	.	.	.	.	.	.	.	.	.	.	.	5.488	0.274967	0.10403	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04551	3.6;3.6;3.6	1.0	-0.00804	0.14006	1.0	-0.00804	0.14006	.	1.973700	0.02584	N	0.099221	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.28709	0.093	T	0.41787	-0.9489	10	0.27082	T	0.32	.	3.2982	0.06974	0.3338:0.0:0.6662:0.0	rs45577435	266	P43361	MAGA8_HUMAN	D	266	ENSP00000438293:G266D;ENSP00000443776:G266D;ENSP00000286482:G266D	ENSP00000286482:G266D	G	+	2	0	0	MAGEA8	148774501	148774501	0.000000	0.05858	0.116000	0.21606	0.417000	0.31264	-0.366000	0.07563	-0.074000	0.12820	0.190000	0.17370	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	1	0	1		2	2	2	0		0	0	240		240	236	1	2.060000	-20.000000	1	0.170000	NM_005364			194	191		662	652	1		1			0	0	240	0		1	0	0	0	0	0	0	194	662
CXorf40B	541578	broad.mit.edu	37	X	149100935	149100935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473																																						ENST00000370406.3	1.000000	0.680000	1	8.500000e-01	0.990000	0.946340	0.990000	1.000000																										0				5						c.(304-306)Gat>Aat		chromosome X open reading frame 40B							135.0	120.0	125.0					X																	149100935		2200	4299	6499	SO:0001583	missense	541578	2	121308	32				g.chrX:149100935C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.304G>A	chrX.hg19:g.149100935C>T	ENSP00000359434:p.Asp102Asn						CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N	p.D102N			0	1	1		Q96DE9	CX04B_HUMAN		5	1132	-	Acute lymphoblastic leukemia(192;6.56e-05)			Missense_Mutation	SNP	ENST00000370406.3	1	1	hg19	c.304G>A	CCDS35426.1	1	.	.	.	.	.	.	.	.	.	.	c	0.900	-0.722721	0.03158	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.22	-0.0889	0.13671	3.22	-0.0889	0.13671	PUA-like domain (1);	1.024090	0.07763	N	0.950486	T	0.21062	0.0507	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30707	-0.9969	10	0.34782	T	0.22	-0.026	4.5761	0.12234	0.0:0.4414:0.3349:0.2237	.	102	Q96DE9	CX04B_HUMAN	N	102	ENSP00000417546:D102N;ENSP00000359434:D102N;ENSP00000347339:D102N;ENSP00000359432:D102N	ENSP00000347339:D102N	D	-	1	0	0	CXorf40B	148851593	148851593	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.764000	0.26532	-0.477000	0.06832	-0.731000	0.03576	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	1	0	1		2	2	2	0		0	0	80		80	104	1	2.060000	-8.620638	1	0.170000	NP_001013867			22	22		225	190	0		1	1		0	0	80	0		9.999950e-01	9.999593e-01	0	27	0	143	0	22	225
MOSPD2	158747	broad.mit.edu	37	X	14929376	14929376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	240			S -> N (in dbSNP:rs35164803).			integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAAGTATAGCTATCCACCAC	0.373																																						ENST00000380492.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(718-720)agC>agA		motile sperm domain containing 2							159.0	155.0	156.0					X																	14929376		2203	4300	6503	SO:0001583	missense	158747	0	0					g.chrX:14929376C>A	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.720C>A	chrX.hg19:g.14929376C>A	ENSP00000369860:p.Ser240Arg						MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	p.S240R	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	0	1	1		Q8NHP6	MSPD2_HUMAN		9	808	+	Hepatocellular(33;0.183)		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	1	1	hg19	c.720C>A	CCDS14162.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302246	0.60195	.	.	ENSG00000130150	ENST00000380492	T	0.61274	0.12	4.85	3.72	0.42706	4.85	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.078294	0.85682	D	0.000000	T	0.62986	0.2473	M	0.75264	2.295	0.58432	D	0.999998	D	0.58620	0.983	P	0.55455	0.776	T	0.65113	-0.6247	10	0.46703	T	0.11	.	3.4507	0.07496	0.0:0.5535:0.0:0.4465	.	240	Q8NHP6	MSPD2_HUMAN	R	240	ENSP00000369860:S240R	ENSP00000369860:S240R	S	+	3	2	2	MOSPD2	14839297	14839297	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.855000	0.27805	2.120000	0.65058	0.594000	0.82650	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	1	0	1		2	2	2	0		0	0	224		224	223	1	2.060000	-20.000000	1	0.170000	NM_152581			142	138		607	601	1		1	1		0	0	224	0		1	9.973351e-01	0	17	0	23	0	142	607
CXorf40B	541578	broad.mit.edu	37	X	149101878	149101878	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562																																						ENST00000370406.3	1.000000	0.610000	9.000000e-01	7.000000e-01	0.790000	0.805532	0.790000	0.800000																										0				5						c.(214-216)cTc>cGc		chromosome X open reading frame 40B							230.0	210.0	217.0					X																	149101878		2201	4300	6501	SO:0001583	missense	541578	0	0					g.chrX:149101878A>C	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.215T>G	chrX.hg19:g.149101878A>C	ENSP00000359434:p.Leu72Arg						CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R	p.L72R			0	1	1		Q96DE9	CX04B_HUMAN		4	1043	-	Acute lymphoblastic leukemia(192;6.56e-05)			Missense_Mutation	SNP	ENST00000370406.3	1	1	hg19	c.215T>G	CCDS35426.1	0	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784764	0.49997	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	2.94	2.94	0.34122	2.94	2.94	0.34122	PUA-like domain (1);	0.148635	0.44483	D	0.000459	T	0.43122	0.1233	M	0.81682	2.555	0.09310	N	0.999995	D	0.69078	0.997	D	0.66351	0.943	T	0.24190	-1.0167	10	0.87932	D	0	-16.5797	9.9496	0.41631	1.0:0.0:0.0:0.0	.	72	Q96DE9	CX04B_HUMAN	R	72	ENSP00000417546:L72R;ENSP00000359434:L72R;ENSP00000347339:L72R;ENSP00000359432:L72R	ENSP00000347339:L72R	L	-	2	0	0	CXorf40B	148852536	148852536	0.382000	0.25148	0.003000	0.11579	0.002000	0.02628	5.177000	0.65032	0.877000	0.35895	0.371000	0.22339	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	0	0	1		2	2	2	0		0	0	227		227	238	1	2.060000	-20.000000	1	0.170000	NP_001013867			61	60		836	808	1		1	1		0	0	227	0		1	9.999898e-01	0	35	0	186	0	61	836
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478																																						ENST00000370401.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										3	Substitution - Missense(3)	p.V96L(1)|p.V144L(1)|p.V169L(1)	lung(3)	37						c.(505-507)Gtg>Atg		mastermind-like domain containing 1							64.0	62.0	63.0					X																	149638350		2203	4300	6503	SO:0001583	missense	10046	2	121410	39				g.chrX:149638350G>A	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.505G>A	chrX.hg19:g.149638350G>A	ENSP00000359428:p.Val169Met						MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M	p.V169M			0	1	1		Q13495	MAMD1_HUMAN		4	815	+	Acute lymphoblastic leukemia(192;6.56e-05)		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	1	1	hg19	c.505G>A	CCDS14693.2	1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280684	0.00254	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.65178	0.21;-0.14;0.21;0.23	5.36	-10.7	0.00240	5.36	-10.7	0.00240	.	1.563870	0.03344	N	0.195271	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.116;0.032;0.002;0.145	B;B;B;B	0.18871	0.023;0.014;0.004;0.014	T	0.30149	-0.9988	10	0.35671	T	0.21	0.5407	6.6423	0.22917	0.6297:0.1798:0.0807:0.1098	.	131;144;144;169	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	131;169;144;169;144	ENSP00000359428:V169M;ENSP00000414517:V144M;ENSP00000262858:V169M;ENSP00000397438:V144M	ENSP00000262858:V169M	V	+	1	0	0	MAMLD1	149389008	149389008	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.262000	0.01175	-3.170000	0.00225	-1.158000	0.01797	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	1	0	1		2	2	2	0		0	0	128		128	127	1	2.060000	-20.000000	1	0.170000	NM_005491			122	118		364	360	1		1	0		0	0	128	0		1	7.021056e-01	0	0	0	9	0	122	364
MTM1	4534	broad.mit.edu	37	X	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	191	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATAAGTGCTATGAGCTCT	0.433																																						ENST00000370396.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(571-573)tgC>tgA		myotubularin 1							171.0	155.0	160.0					X																	149809786		2203	4300	6503	SO:0001587	stop_gained	4534	0	0					g.chrX:149809786C>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.573C>A	chrX.hg19:g.149809786C>A	ENSP00000359423:p.Cys191*						MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	p.C191*	NM_000252.2	NP_000243.1	0	1	1		Q13496	MTM1_HUMAN		8	627	+	Acute lymphoblastic leukemia(192;6.56e-05)		A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	ENST00000370396.2	0	1	hg19	c.573C>A	CCDS14694.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.788925	0.96945	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.44	3.67	0.42095	5.44	3.67	0.42095	.	0.258803	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5168	0.07727	0.1805:0.5115:0.0:0.3081	.	.	.	.	X	191;96;76;154	.	ENSP00000359423:C191X	C	+	3	2	2	MTM1	149560444	149560444	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	0.585000	0.29608	0.529000	0.55759	TGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-20.000000	1	0.170000	NM_000252			103	102		342	336	0		1	0		0	0	80	0		1	8.018288e-01	0	1	0	11	0	103	342
MTMR1	8776	broad.mit.edu	37	X	149924229	149924229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000370390.3	+	14	1882	c.1725C>A	c.(1723-1725)ccC>ccA	p.P575P	MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000541925.1_Silent_p.P481P|MTMR1_ENST00000445323.2_Silent_p.P583P|MTMR1_ENST00000544228.1_Silent_p.P575P	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	575	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				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)			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)					TTTCTAATCCCTTCTTTGTGA	0.343																																						ENST00000370390.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1723-1725)ccC>ccA		myotubularin related protein 1							159.0	140.0	147.0					X																	149924229		2203	4300	6503	SO:0001819	synonymous_variant	8776	0	0					g.chrX:149924229C>A	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.1725C>A	chrX.hg19:g.149924229C>A							MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000445323.2_Silent_p.P583P|MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P	p.P575P	NM_003828.2	NP_003819.1	0	1	1		Q13613	MTMR1_HUMAN		14	1882	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	1	1	hg19	c.1725C>A	CCDS14695.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-4.883816	1	0.170000	NM_003828, NM_176789			82	81		236	234	1		1	1		0	0	68	0		1	9.990496e-01	0	16	0	17	0	82	236
PASD1	139135	broad.mit.edu	37	X	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	306						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAGTTCTCGGTGGATC	0.582																																						ENST00000370357.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(916-918)ttC>ttA		PAS domain containing 1							107.0	90.0	96.0					X																	150832667		2203	4300	6503	SO:0001583	missense	139135	0	0					g.chrX:150832667C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.918C>A	chrX.hg19:g.150832667C>A	ENSP00000359382:p.Phe306Leu							p.F306L	NM_173493.2	NP_775764.2	0	1	1		Q8IV76	PASD1_HUMAN		11	1163	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	1	1	hg19	c.918C>A	CCDS35431.1	1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297625	0.23650	.	.	ENSG00000166049	ENST00000370357	T	0.66815	-0.23	2.65	-5.3	0.02738	2.65	-5.3	0.02738	.	.	.	.	.	T	0.36331	0.0963	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.19647	-1.0299	9	0.27785	T	0.31	.	1.4193	0.02309	0.1607:0.3324:0.3202:0.1867	.	306	Q8IV76	PASD1_HUMAN	L	306	ENSP00000359382:F306L	ENSP00000359382:F306L	F	+	3	2	2	PASD1	150583323	150583323	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-3.997000	0.00317	-2.092000	0.00857	0.529000	0.55759	TTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	1	0	1		2	2	2	0		0	0	100		100	99	1	2.060000	-20.000000	1	0.170000	NM_173493			90	89		307	299	1		1			0	0	100	0		1	0	0	0	0	0	0	90	307
FATE1	89885	broad.mit.edu	37	X	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCATACGTTTCCATTAT	0.592													G|||	4	0.0010596	0.0	0.0	3775	,	,		14800	0.0		0.0	False		,,,				2504	0.0041					ENST00000370350.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(325-327)cGt>cAt		fetal and adult testis expressed 1		G	HIS/ARG	1,3834		0,1,0,1631,571	95.0	75.0	82.0		326	-1.0	0.0	X	dbSNP_134	82	2,6726		0,1,1,2427,1871	yes	missense	FATE1	NM_033085.2	29	0,2,1,4058,2442	AA,AG,A,GG,G		0.0297,0.0261,0.0284	probably-damaging	109/184	150889958	3,10560	2203	4300	6503	SO:0001583	missense	89885	57	121410	47				g.chrX:150889958G>A	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.326G>A	chrX.hg19:g.150889958G>A	ENSP00000359375:p.Arg109His							p.R109H	NM_033085.2	NP_149076.1	0	1	1		Q969F0	FATE1_HUMAN		3	411	+	Acute lymphoblastic leukemia(192;6.56e-05)			Missense_Mutation	SNP	ENST00000370350.3	1	1	hg19	c.326G>A	CCDS14700.1	1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344934	0.41498	2.61E-4	2.97E-4	ENSG00000147378	ENST00000370350	T	0.50548	0.74	3.86	-0.981	0.10269	3.86	-0.981	0.10269	.	1.771650	0.03809	N	0.265624	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P	0.44627	0.839	B	0.32762	0.152	T	0.36432	-0.9748	10	0.56958	D	0.05	-1.8615	7.3918	0.26913	0.6058:0.0:0.3942:0.0	.	109	Q969F0	FATE1_HUMAN	H	109	ENSP00000359375:R109H	ENSP00000359375:R109H	R	+	2	0	0	FATE1	150640614	150640614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	-0.382000	0.07870	0.483000	0.47432	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_033085			70	70		224	224	1		1	0		0	0	60	0		1	0	0	0	0	1	0	70	224
CNGA2	1260	broad.mit.edu	37	X	150911635	150911635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					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 cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTGCAGTTCAAGCTGG	0.522																																						ENST00000329903.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(658-660)caG>caA		cyclic nucleotide gated channel alpha 2							138.0	100.0	113.0					X																	150911635		2203	4300	6503	SO:0001819	synonymous_variant	1260	0	0					g.chrX:150911635G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.660G>A	chrX.hg19:g.150911635G>A								p.Q220Q	NM_005140.1	NP_005131.1	0	1	1		Q16280	CNGA2_HUMAN		6	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0AVD0	Silent	SNP	ENST00000329903.4	1	1	hg19	c.660G>A	CCDS14701.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_005140			97	95		259	255	1		1			0	0	81	0		1	0	0	0	0	0	0	97	259
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101										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)					CCTCGCCTGACGCAGAGTCCT	0.557																																						ENST00000360243.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(301-303)gaC>gaT		melanoma antigen family A, 4							75.0	68.0	70.0					X																	151092439		2203	4300	6503	SO:0001819	synonymous_variant	4103	0	0					g.chrX:151092439C>T		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.303C>T	chrX.hg19:g.151092439C>T							MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D|MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D	p.D101D	NM_001011550.1	NP_001011550.1	0	1	1		P43358	MAGA4_HUMAN		3	570	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q14798	Silent	SNP	ENST00000360243.2	1	1	hg19	c.303C>T	CCDS14702.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	1	0	1		2	2	2	0		0	0	112		112	111	1	2.060000	-20.000000	1	0.170000	NM_002362			98	96		344	342	0		1			0	0	112	0		1	0	0	0	0	0	0	98	344
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370328.3	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					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.T321I(1)|p.T208I(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)	GCCCAACGTGGTCATGGTCAG	0.498																																						ENST00000370328.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T321I(1)|p.T208I(1)	lung(2)	27						c.(961-963)aCc>aTc		gamma-aminobutyric acid (GABA) A receptor, epsilon	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)						108.0	92.0	98.0					X																	151124015		2203	4300	6503	SO:0001583	missense	2564	0	0					g.chrX:151124015G>A	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.962C>T	chrX.hg19:g.151124015G>A	ENSP00000359353:p.Thr321Ile						AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I|GABRE_ENST00000483564.1_5'UTR	p.T321I	NM_004961.3	NP_004952.2	0	1	1		P78334	GBRE_HUMAN		8	1015	-	Acute lymphoblastic leukemia(192;6.56e-05)		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	1	1	hg19	c.962C>T	CCDS14703.1	1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	0	GABRE	150874671	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	1	0	1		2	2	2	0		0	0	78		78	76	1	2.060000	-20.000000	1	0.170000	NM_004961, NM_021990, NM_021984			83	83		260	255	1		1	1		0	0	78	0		1	8.844140e-01	0	9	0	5	0	83	260
GABRE	2564	broad.mit.edu	37	X	151129810	151129810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370328.3	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Silent_p.L197L|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Intron	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	197					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)			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)	TGAGCATGTGGAGTGAGCATC	0.522																																						ENST00000370328.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999967	0.990000	1.000000																										0				27						c.(589-591)ctC>ctT		gamma-aminobutyric acid (GABA) A receptor, epsilon	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)						133.0	121.0	125.0					X																	151129810		2203	4300	6503	SO:0001819	synonymous_variant	2564	0	0					g.chrX:151129810G>A	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.591C>T	chrX.hg19:g.151129810G>A							MIR452_ENST00000385020.1_RNA|MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Silent_p.L197L|GABRE_ENST00000393914.3_Intron	p.L197L	NM_004961.3	NP_004952.2	0	1	1		P78334	GBRE_HUMAN		5	644	-	Acute lymphoblastic leukemia(192;6.56e-05)		E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	1	1	hg19	c.591C>T	CCDS14703.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	1	0	1		2	2	2	0		0	0	123		123	123	1	2.060000	-3.142752	1	0.170000	NM_004961, NM_021990, NM_021984			55	53		366	358	1		1	0		0	0	123	0		1	1.779740e-02	0	0	0	2	0	55	366
GABRQ	55879	broad.mit.edu	37	X	151818234	151818234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	214					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCATATTATTCTGGGATGA	0.433																																						ENST00000370306.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(640-642)Ttc>Gtc		gamma-aminobutyric acid (GABA) A receptor, theta	Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						158.0	129.0	139.0					X																	151818234		2203	4300	6503	SO:0001583	missense	55879	0	0					g.chrX:151818234T>G	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.640T>G	chrX.hg19:g.151818234T>G	ENSP00000359329:p.Phe214Val							p.F214V	NM_018558.2	NP_061028.3	0	1	1		Q9UN88	GBRT_HUMAN		6	660	+	Acute lymphoblastic leukemia(192;6.56e-05)		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	1	1	hg19	c.640T>G	CCDS14707.1	1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096594	0.36952	.	.	ENSG00000147402	ENST00000370306	T	0.78246	-1.16	5.82	5.82	0.92795	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.280140	0.25786	N	0.028304	T	0.56187	0.1968	N	0.03917	-0.325	0.30477	N	0.77273	P	0.43231	0.801	B	0.37780	0.258	T	0.62718	-0.6795	10	0.42905	T	0.14	.	12.9114	0.58182	0.0:0.0:0.0:1.0	.	214	Q9UN88	GBRT_HUMAN	V	214	ENSP00000359329:F214V	ENSP00000359329:F214V	F	+	1	0	0	GABRQ	151568890	151568890	1.000000	0.71417	0.861000	0.33841	0.128000	0.20619	4.927000	0.63440	1.957000	0.56846	0.486000	0.48141	TTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	1	0	1		2	2	2	0		0	0	95		95	94	1	2.060000	-20.000000	1	0.170000	NM_018558			94	92		376	371	1		1	0		0	0	95	0		1	1.827419e-01	0	0	0	4	0	94	376
MAGEA3	4102	broad.mit.edu	37	X	151935444	151935444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542																																						ENST00000393902.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(721-723)gaT>gaG		melanoma antigen family A, 3							147.0	140.0	143.0					X																	151935444		2202	4293	6495	SO:0001583	missense	4102	0	0					g.chrX:151935444A>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.723T>G	chrX.hg19:g.151935444A>C	ENSP00000377480:p.Asp241Glu						MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E	p.D241E			0	1	1		P43357	MAGA3_HUMAN		3	1290	-	Acute lymphoblastic leukemia(192;6.56e-05)		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	1	1	hg19	c.723T>G	CCDS14715.1	1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.022220	0.00414	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04551	3.6;3.6	1.42	-2.84	0.05751	1.42	-2.84	0.05751	.	0.209202	0.47852	N	0.000214	T	0.00784	0.0026	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	.	2.0781	0.03628	0.41:0.2959:0.0:0.294	.	241	P43357	MAGA3_HUMAN	E	241	ENSP00000359301:D241E;ENSP00000377480:D241E	ENSP00000359301:D241E	D	-	3	2	2	MAGEA3	151686100	151686100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.106000	0.03319	-0.868000	0.04058	-1.030000	0.02411	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	1	0	1		14	2	2	0		0	1	255		255	253	1	2.060000	-20.000000	1	0.170000	NM_005362			207	202		706	690	1		1			0	0	255	0		1	0	0	0	0	0	0	207	706
CETN2	1069	broad.mit.edu	37	X	151996394	151996394	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	170	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999928	0.990000	1.000000																										0				7						c.(508-510)agC>agT	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							168.0	146.0	154.0					X																	151996394		2203	4300	6503	SO:0001819	synonymous_variant	1069	0	0					g.chrX:151996394G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.510C>T	chrX.hg19:g.151996394G>A							CETN2_ENST00000493482.1_5'UTR	p.S170S	NM_004344.1	NP_004335.1	0	1	1		P41208	CETN2_HUMAN		5	576	-	Acute lymphoblastic leukemia(192;6.56e-05)		B2R4T4|Q53XW1	Silent	SNP	ENST00000370277.3	1	1	hg19	c.510C>T	CCDS14716.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	1	0	1		2	2	2	0		0	0	129		129	123	1	2.060000	-20.000000	1	0.170000	NM_004344			70	69		513	490	1		1	1		0	0	129	0		1	1	0	85	0	252	0	70	513
NSDHL	50814	broad.mit.edu	37	X	152037363	152037363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	275					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)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCCCTTTCTGGACATTCC	0.537																																						ENST00000370274.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(823-825)ttC>ttA		NAD(P) dependent steroid dehydrogenase-like							204.0	186.0	192.0					X																	152037363		2203	4300	6503	SO:0001583	missense	50814	0	0					g.chrX:152037363C>A	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.825C>A	chrX.hg19:g.152037363C>A	ENSP00000359297:p.Phe275Leu						NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	p.F275L	NM_015922.2	NP_057006.1	0	1	1		Q15738	NSDHL_HUMAN		8	1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	1	1	hg19	c.825C>A	CCDS14717.1	1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612523	0.66672	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	2.61	0.31194	4.4	2.61	0.31194	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.55103	1.725	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	10	0.44086	T	0.13	-3.6346	7.5523	0.27804	0.0:0.778:0.0:0.222	.	275	Q15738	NSDHL_HUMAN	L	275	ENSP00000359297:F275L;ENSP00000391854:F275L	ENSP00000359297:F275L	F	+	3	2	2	NSDHL	151788019	151788019	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.659000	0.46741	0.957000	0.37930	-0.245000	0.11935	TTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	0	0	1		17	3	2	1		1	1	288		288	284	1	2.060000	-20.000000	1	0.170000	NM_015922			339	336		1050	1028	1		1	1		1	0	288	0		1	1	0	64	0	39	0	339	1050
ASB9	140462	broad.mit.edu	37	X	15276992	15276992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000380488.4	-	2	443	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	57					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTACCTGGCTGATGAGGTT	0.373																																						ENST00000380488.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(169-171)aGc>aTc		ankyrin repeat and SOCS box containing 9							113.0	97.0	102.0					X																	15276992		2203	4300	6503	SO:0001583	missense	140462	0	0					g.chrX:15276992C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.170G>T	chrX.hg19:g.15276992C>A	ENSP00000369855:p.Ser57Ile						ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I	p.S57I	NM_001031739.2	NP_001026909.1	0	1	1		Q96DX5	ASB9_HUMAN		2	443	-	Hepatocellular(33;0.183)		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	1	1	hg19	c.170G>T	CCDS35208.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111713	0.56398	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	-0.17;-0.16;-0.16;-0.16	5.84	2.18	0.27775	5.84	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.519060	0.24381	N	0.039004	T	0.70527	0.3234	M	0.67625	2.065	0.31781	N	0.630865	D;P;D;P	0.62365	0.991;0.847;0.979;0.954	P;P;P;P	0.60609	0.877;0.674;0.858;0.644	T	0.73043	-0.4107	10	0.87932	D	0	-4.8505	8.4539	0.32888	0.0:0.4907:0.0:0.5093	.	57;57;57;57	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	I	57	ENSP00000369850:S57I;ENSP00000369852:S57I;ENSP00000369855:S57I;ENSP00000438943:S57I	ENSP00000369850:S57I	S	-	2	0	0	ASB9	15186913	15186913	0.051000	0.20477	0.970000	0.41538	0.636000	0.38137	-0.574000	0.05868	0.003000	0.14656	-0.192000	0.12808	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	1		2	2	2	0		0	0	105		105	103	1	2.060000	-20.000000	1	0.170000				75	75		239	236	1		1	0		0	0	105	0		1	9.206061e-01	0	0	0	16	0	75	239
PNMA5	114824	broad.mit.edu	37	X	152159032	152159032	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T|PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	371					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587																																						ENST00000439251.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1111-1113)Gca>Aca		paraneoplastic Ma antigen family member 5							85.0	75.0	78.0					X																	152159032		2203	4300	6503	SO:0001583	missense	114824	0	0					g.chrX:152159032C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1111G>A	chrX.hg19:g.152159032C>T	ENSP00000388850:p.Ala371Thr						PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T	p.A371T	NM_001103150.1	NP_001096620.1	0	1	1		Q96PV4	PNMA5_HUMAN		2	1549	-	Acute lymphoblastic leukemia(192;6.56e-05)		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	1	1	hg19	c.1111G>A	CCDS14718.1	1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361264	0.24684	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	3.13	-0.979	0.10276	3.13	-0.979	0.10276	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.46898	-0.9158	9	0.16420	T	0.52	-24.3667	3.8085	0.08788	0.0:0.3323:0.3985:0.2692	.	371	Q96PV4	PNMA5_HUMAN	T	371	ENSP00000354834:A371T;ENSP00000445775:A371T;ENSP00000388850:A371T;ENSP00000392342:A371T	ENSP00000354834:A371T	A	-	1	0	0	PNMA5	151909688	151909688	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	-0.928000	0.03980	-0.376000	0.07943	-0.880000	0.02959	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	1	0	1		2	2	2	0		0	0	113		113	111	1	2.060000	-20.000000	1	0.170000	NM_052926			110	104		337	329	1		1			0	0	113	0		1	0	0	0	0	0	0	110	337
ATP2B3	492	broad.mit.edu	37	X	152811581	152811581	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000349466.2	+	7	1278	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	318					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGCCAGACCAAAGGTAA	0.642																																						ENST00000349466.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(952-954)Acc>Tcc		ATPase, Ca++ transporting, plasma membrane 3							69.0	55.0	60.0					X																	152811581		2201	4300	6501	SO:0001583	missense	492	0	0					g.chrX:152811581A>T	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.952A>T	chrX.hg19:g.152811581A>T	ENSP00000343886:p.Thr318Ser						ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron	p.T318S			0	1	1		Q16720	AT2B3_HUMAN		7	1278	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	1	1	hg19	c.952A>T	CCDS35440.1	1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945995	0.34377	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.660970	0.03744	N	0.255503	D	0.85630	0.5741	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60016	-0.7345	10	0.13470	T	0.59	-2.5058	12.7934	0.57547	1.0:0.0:0.0:0.0	.	318;318	Q16720;Q16720-2	AT2B3_HUMAN;.	S	318	ENSP00000343886:T318S;ENSP00000352062:T318S;ENSP00000263519:T318S	ENSP00000263519:T318S	T	+	1	0	0	ATP2B3	152464775	152464775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.774000	0.91767	1.659000	0.50751	0.352000	0.21897	ACC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_021949			44	43		170	166	1		1			0	0	51	0		1	0	0	0	0	0	0	44	170
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000370150.1	-	5	569	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000340888.3_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000393831.2_Missense_Mutation_p.G131R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662																																						ENST00000370150.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				6						c.(391-393)Ggg>Agg		pregnancy up-regulated nonubiquitous CaM kinase							25.0	24.0	25.0					X																	152937358		2202	4296	6498	SO:0001583	missense	139728	0	0					g.chrX:152937358C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.391G>A	chrX.hg19:g.152937358C>T	ENSP00000359169:p.Gly131Arg						PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R|PNCK_ENST00000393831.2_Missense_Mutation_p.G131R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R	p.G131R			0	1	1		Q6P2M8	KCC1B_HUMAN		5	569	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	1	1	hg19	c.391G>A		1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.445474	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.50735	0.1633	L	0.50919	1.6	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;0.989;0.989;0.989	T	0.53251	-0.8465	10	0.72032	D	0.01	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	R	131;131;131;131;148;214;131;131	ENSP00000340586:G131R;ENSP00000359169:G131R;ENSP00000377417:G131R;ENSP00000359161:G131R;ENSP00000359164:G148R;ENSP00000405950:G214R;ENSP00000415770:G131R;ENSP00000391772:G131R	ENSP00000340586:G131R	G	-	1	0	0	PNCK	152590552	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-16.532020	1	0.170000	NM_198452			24	24		99	96	1		1	1		0	0	28	0		9.999998e-01	8.654542e-01	0	14	0	3	0	24	99
ASB11	140456	broad.mit.edu	37	X	15301646	15301646	+	Missense_Mutation	SNP	C	C	T	rs201426380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000480796.1	-	7	1003	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	318	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGGAATCGTTCGAGTGG	0.498													C|||	1	0.000264901	0.0	0.0	3775	,	,		13336	0.0		0.0	False		,,,				2504	0.001					ENST00000480796.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(952-954)cGa>cAa		ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase		C	GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	231.0	187.0	202.0		890,902,953	1.1	1.0	X		202	1,6727		0,1,2427,1872	no	missense,missense,missense	ASB11	NM_001012428.2,NM_001201583.1,NM_080873.2	43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	297/303,301/307,318/324	15301646	1,10562	2203	4300	6503	SO:0001583	missense	140456	1	121408	40				g.chrX:15301646C>T	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.953G>A	chrX.hg19:g.15301646C>T	ENSP00000417914:p.Arg318Gln						ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q	p.R318Q			0	1	1		Q8WXH4	ASB11_HUMAN		7	1003	-	Hepatocellular(33;0.183)		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	1	1	hg19	c.953G>A	CCDS14164.1	1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849570	0.17034	0.0	1.49E-4	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.72	1.12	0.20585	5.72	1.12	0.20585	SOCS protein, C-terminal (3);	0.373056	0.25344	N	0.031341	T	0.24160	0.0585	N	0.21583	0.68	0.20873	N	0.999834	B;B;B	0.16802	0.011;0.005;0.019	B;B;B	0.15484	0.013;0.006;0.01	T	0.15150	-1.0447	10	0.27082	T	0.32	-7.9194	7.6607	0.28402	0.0:0.2848:0.0:0.7152	.	301;318;297	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	297;301;297;318	ENSP00000445465:R297Q;ENSP00000369837:R301Q;ENSP00000343408:R297Q;ENSP00000417914:R318Q	ENSP00000343408:R297Q	R	-	2	0	0	ASB11	15211567	15211567	1.000000	0.71417	0.979000	0.43373	0.237000	0.25408	2.239000	0.43079	0.147000	0.19030	-0.296000	0.09543	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2	1	0	1		2	2	2	0		0	0	237		237	235	1	2.060000	-4.691842	1	0.170000				194	192		669	654	1		1			0	0	237	0		1	0	0	0	0	0	0	194	669
SLC6A8	6535	broad.mit.edu	37	X	152960076	152960076	+	Silent	SNP	G	G	A	rs201838389		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000430077.2_Silent_p.P413P|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	528					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)			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)	TCTTCACCCCGCTGGTCTGCA	0.652													G|||	2	0.000529801	0.0	0.0	3775	,	,		6348	0.0		0.002	False		,,,				2504	0.0					ENST00000253122.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(1582-1584)ccG>ccA		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						41.0	39.0	40.0					X																	152960076		2202	4294	6496	SO:0001819	synonymous_variant	6535	37	121356	46				g.chrX:152960076G>A		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.1584G>A	chrX.hg19:g.152960076G>A							SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	p.P528P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	0	1	1		P48029	SC6A8_HUMAN		11	2060	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	1	1	hg19	c.1584G>A	CCDS14726.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1	1	0	1		2	2	2	0		0	0	64		64	61	1	2.060000	-3.227006	1	0.170000				74	71		218	203	0		1	1		0	0	64	0		1	1	0	279	0	59	0	74	218
PLXNB3	5365	broad.mit.edu	37	X	153032536	153032536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000361971.5	+	3	368	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642																																						ENST00000361971.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(253-255)gCc>gTc		plexin B3							38.0	32.0	34.0					X																	153032536		2202	4299	6501	SO:0001583	missense	5365	0	0					g.chrX:153032536C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.254C>T	chrX.hg19:g.153032536C>T	ENSP00000355378:p.Ala85Val						PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V|U52111.14_ENST00000416854.1_RNA	p.A85V	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		3	368	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	1	1	hg19	c.254C>T	CCDS14729.1	1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351217	0.11182	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04275	3.66;3.66	4.92	2.04	0.26737	4.92	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.943604	0.08769	N	0.896659	T	0.02610	0.0079	N	0.11313	0.125	0.09310	N	1	B;B	0.21688	0.059;0.007	B;B	0.28465	0.09;0.021	T	0.49818	-0.8899	10	0.19590	T	0.45	.	1.1318	0.01746	0.1506:0.3674:0.2593:0.2226	.	108;85	F5H773;Q9ULL4	.;PLXB3_HUMAN	V	108;85	ENSP00000442736:A108V;ENSP00000355378:A85V	ENSP00000355378:A85V	A	+	2	0	0	PLXNB3	152685730	152685730	0.000000	0.05858	0.036000	0.18154	0.099000	0.18886	-0.384000	0.07389	0.863000	0.35553	-0.296000	0.09543	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	0		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000				48	48		153	147	1		1	0		0	0	57	0		1	4.442864e-01	0	0	0	6	0	48	153
PLXNB3	5365	broad.mit.edu	37	X	153032615	153032615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000361971.5	+	3	447	c.333G>T	c.(331-333)caG>caT	p.Q111H	PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	111	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697																																						ENST00000361971.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(331-333)caG>caT		plexin B3							19.0	17.0	18.0					X																	153032615		2197	4290	6487	SO:0001583	missense	5365	0	0					g.chrX:153032615G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.333G>T	chrX.hg19:g.153032615G>T	ENSP00000355378:p.Gln111His						PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H|U52111.14_ENST00000416854.1_RNA	p.Q111H	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		3	447	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	1	1	hg19	c.333G>T	CCDS14729.1	1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735469	0.15574	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04551	3.6;3.6	4.79	2.82	0.32997	4.79	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.549822	0.15044	N	0.283720	T	0.04679	0.0127	L	0.43152	1.355	0.24397	N	0.994723	B;B	0.21688	0.059;0.01	B;B	0.25506	0.061;0.034	T	0.28364	-1.0046	10	0.42905	T	0.14	.	3.9563	0.09391	0.0968:0.1546:0.5881:0.1605	.	134;111	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	134;111	ENSP00000442736:Q134H;ENSP00000355378:Q111H	ENSP00000355378:Q111H	Q	+	3	2	2	PLXNB3	152685809	152685809	0.018000	0.18449	0.989000	0.46669	0.140000	0.21249	0.918000	0.28678	1.961000	0.56991	0.468000	0.43344	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	0		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000				31	31		79	78	1		1	0		0	0	24	0		1	8.343869e-02	0	0	0	2	0	31	79
PLXNB3	5365	broad.mit.edu	37	X	153032912	153032912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000361971.5	+	3	744	c.630G>A	c.(628-630)ggG>ggA	p.G210G	PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Silent_p.G233G|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716																																						ENST00000361971.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				32						c.(628-630)ggG>ggA		plexin B3							12.0	12.0	12.0					X																	153032912		2183	4267	6450	SO:0001819	synonymous_variant	5365	0	0					g.chrX:153032912G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.630G>A	chrX.hg19:g.153032912G>A							PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.G233G|U52111.14_ENST00000416854.1_RNA	p.G210G	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		3	744	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	1	1	hg19	c.630G>A	CCDS14729.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1		2	2	2	0		0	0	28		28	28	1	2.060000	-20.000000	1	0.170000				22	21		80	78	0		1			0	0	28	0		9.999993e-01	0	0	0	0	0	0	22	80
PLXNB3	5365	broad.mit.edu	37	X	153037356	153037356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000361971.5	+	15	2669	c.2555C>T	c.(2554-2556)gCc>gTc	p.A852V	PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538543.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	852	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687																																						ENST00000361971.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				32						c.(2554-2556)gCc>gTc		plexin B3							30.0	24.0	26.0					X																	153037356		2179	4285	6464	SO:0001583	missense	5365	0	0					g.chrX:153037356C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2555C>T	chrX.hg19:g.153037356C>T	ENSP00000355378:p.Ala852Val						PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V	p.A852V	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		15	2669	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	1	1	hg19	c.2555C>T	CCDS14729.1	1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840269	0.02692	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.96	3.16	0.36331	4.96	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.345193	0.28109	N	0.016566	T	0.54271	0.1848	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.18871	0.006;0.023;0.002;0.006	T	0.40079	-0.9582	10	0.27785	T	0.31	.	9.0453	0.36343	0.0:0.8066:0.0:0.1934	.	505;534;875;852	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	875;852;505;462	ENSP00000442736:A875V;ENSP00000355378:A852V;ENSP00000445569:A505V;ENSP00000441919:A462V	ENSP00000355378:A852V	A	+	2	0	0	PLXNB3	152690550	152690550	0.000000	0.05858	0.962000	0.40283	0.003000	0.03518	0.759000	0.26461	0.875000	0.35847	0.513000	0.50165	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000				33	31		121	119	1		1	0		0	0	38	0		1	4.858729e-02	0	0	0	2	0	33	121
PLXNB3	5365	broad.mit.edu	37	X	153038807	153038807	+	Missense_Mutation	SNP	G	G	A	rs373016226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000361971.5	+	18	3143	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1010	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692																																						ENST00000361971.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999923	0.990000	1.000000																										0				32						c.(3028-3030)cGc>cAc		plexin B3		G	HIS/ARG,HIS/ARG	0,3811		0,0,1626,559	32.0	26.0	28.0		3029,3098	-9.6	0.6	X		28	1,6716		0,1,2426,1863	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,1,4052,2422	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	1010/1910,1033/1933	153038807	1,10527	2185	4290	6475	SO:0001583	missense	5365	4	120684	35				g.chrX:153038807G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3029G>A	chrX.hg19:g.153038807G>A	ENSP00000355378:p.Arg1010His						PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H	p.R1010H	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		18	3143	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	1	1	hg19	c.3029G>A	CCDS14729.1	1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286038	0.23478	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.94	-9.61	0.00550	4.94	-9.61	0.00550	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.850231	0.10782	N	0.634810	T	0.50154	0.1599	N	0.11000	0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.33979	-0.9847	10	0.40728	T	0.16	.	7.8288	0.29330	0.2055:0.0935:0.6149:0.0861	.	663;1033;1010	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1033;1010;663;620	ENSP00000442736:R1033H;ENSP00000355378:R1010H;ENSP00000445569:R663H;ENSP00000441919:R620H	ENSP00000355378:R1010H	R	+	2	0	0	PLXNB3	152692001	152692001	0.000000	0.05858	0.592000	0.28758	0.389000	0.30415	-0.818000	0.04467	-2.030000	0.00929	-0.422000	0.05995	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000				20	20		86	82	1		1	1		0	0	22	0		9.999966e-01	3.312405e-01	0	3	0	3	0	20	86
IDH3G	3421	broad.mit.edu	37	X	153053284	153053284	+	Missense_Mutation	SNP	C	C	A	rs148318932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153053284C>A	ENST00000217901.5	-	7	730	c.534G>T	c.(532-534)gaG>gaT	p.E178D	IDH3G_ENST00000370092.3_Missense_Mutation_p.E178D|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	178					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTCATGCTCCAGGCTGC	0.592																																						ENST00000217901.5	0.480000	0.200000	4.000000e-01	2.500000e-01	0.320000	0.334337	0.320000	0.320000																										0				17						c.(532-534)gaG>gaT		isocitrate dehydrogenase 3 (NAD+) gamma							112.0	95.0	101.0					X																	153053284		2203	4300	6503	SO:0001583	missense	3421	0	0					g.chrX:153053284C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.534G>T	chrX.hg19:g.153053284C>A	ENSP00000217901:p.Glu178Asp						IDH3G_ENST00000370092.3_Missense_Mutation_p.E178D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D	p.E178D	NM_004135.3	NP_004126.1	0	1	1		P51553	IDH3G_HUMAN		7	730	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	1	1	hg19	c.534G>T	CCDS14730.1	0	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127497	0.77549	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.68	5.59	2.44	0.29823	5.59	2.44	0.29823	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.96080	3.765	0.54753	D	0.99998	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.983	T	0.79792	-0.1654	10	0.87932	D	0	.	9.0405	0.36314	0.0:0.6392:0.0:0.3608	.	178;178	E9PDD5;P51553	.;IDH3G_HUMAN	D	178;178;178;120;74;155;118	ENSP00000359110:E178D;ENSP00000217901:E178D;ENSP00000359111:E178D;ENSP00000408529:E120D;ENSP00000401862:E155D;ENSP00000402747:E118D	ENSP00000217901:E178D	E	-	3	2	2	IDH3G	152706478	152706478	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.725000	0.25970	0.545000	0.28902	0.529000	0.55759	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27	0	0	1		2	2	2	0		0	0	145		145	145	1	2.060000	-15.667490	1	0.170000				20	20		712	696	0		1	1		0	0	145	0		9.999939e-01	9.981016e-01	0	13	0	339	0	20	712
AVPR2	554	broad.mit.edu	37	X	153172136	153172136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	ENST00000358927.2	+	4	1279	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y			P30518	V2R_HUMAN	arginine vasopressin receptor 2	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAGATGAGTCCTGCACCACC	0.602																																						ENST00000358927.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1069-1071)tCc>tAc		arginine vasopressin receptor 2	Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)						47.0	44.0	45.0					X																	153172136		2203	4300	6503	SO:0001583	missense	554	0	0					g.chrX:153172136C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1070C>A	chrX.hg19:g.153172136C>A	ENSP00000351805:p.Ser357Tyr						AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|AVPR2_ENST00000370049.1_3'UTR|ARHGAP4_ENST00000467421.1_5'Flank	p.S357Y			0	1	1		P30518	V2R_HUMAN		4	1279	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	1	1	hg19	c.1070C>A	CCDS14735.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.76|13.76	2.334503|2.334503	0.41297|0.41297	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.77489|0.76578	-1.1|-1.03;-1.03	4.3|4.3	4.3|4.3	0.51218|0.51218	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.370985	.|0.27986	.|N	.|0.017046	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.72894|0.72894	2.215|2.215	0.41268|0.41268	D|D	0.986824|0.986824	.|D	.|0.76494	.|0.999	.|D	.|0.65987	.|0.94	D|D	0.88426|0.88426	0.3032|0.3032	7|10	0.56958|0.87932	D|D	0.05|0	-8.3004|-8.3004	15.0865|15.0865	0.72158|0.72158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|357	.|P30518	.|V2R_HUMAN	T|Y	328|357	ENSP00000393513:P328T|ENSP00000351805:S357Y;ENSP00000338072:S357Y	ENSP00000393513:P328T|ENSP00000338072:S357Y	P|S	+|+	1|2	0|0	0|0	AVPR2|AVPR2	152825330|152825330	152825330|152825330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.240000|0.240000	0.25518|0.25518	6.638000|6.638000	0.74309|0.74309	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	CCT|TCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2	1	0	1		2	2	2	0		0	0	83		83	81	1	2.060000	-20.000000	1	0.170000				98	98		247	240	0		1	0		0	0	83	0		1	1.984987e-01	0	0	0	3	0	98	247
RENBP	5973	broad.mit.edu	37	X	153208501	153208501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000393700.3	-	6	573	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.V165I	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	165					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687																																						ENST00000393700.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(493-495)Gtc>Atc		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						19.0	16.0	17.0					X																	153208501		2195	4286	6481	SO:0001583	missense	5973	0	0					g.chrX:153208501C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.493G>A	chrX.hg19:g.153208501C>T	ENSP00000377303:p.Val165Ile						RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000412763.1_Missense_Mutation_p.V165I|RENBP_ENST00000462086.1_5'UTR	p.V165I	NM_002910.5	NP_002901.2	0	1	1		P51606	RENBP_HUMAN		6	573	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	1	1	hg19	c.493G>A	CCDS14738.2	1	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840675	0.02692	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29397	1.57;1.57;1.57	3.92	-1.74	0.08056	3.92	-1.74	0.08056	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.663319	0.14678	N	0.304911	T	0.16471	0.0396	N	0.20401	0.57	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.11329	0.004;0.006	T	0.24261	-1.0165	10	0.23891	T	0.37	-12.8598	9.9145	0.41425	0.0:0.4931:0.0:0.5069	.	165;165	P51606-2;P51606	.;RENBP_HUMAN	I	165;165;151	ENSP00000377303:V165I;ENSP00000387811:V165I;ENSP00000359014:V151I	ENSP00000359014:V151I	V	-	1	0	0	RENBP	152861695	152861695	0.000000	0.05858	0.506000	0.27664	0.123000	0.20343	0.222000	0.17699	-0.396000	0.07703	0.183000	0.17082	GTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	1	0	1		2	2	2	0		0	0	35		35	34	1	2.060000	-20.000000	1	0.170000	NM_002910			48	46		156	154	0		1	0		0	0	35	0		1	9.999958e-01	0	0	0	65	0	48	156
HCFC1	3054	broad.mit.edu	37	X	153219959	153219959	+	Silent	SNP	G	G	A	rs368228709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000310441.7	-	17	4857	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000369984.4_Silent_p.H1297H|HCFC1_ENST00000354233.3_Silent_p.H1228H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1297					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662																																						ENST00000310441.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(3889-3891)caC>caT		host cell factor C1		G		1,3771		0,0,1,1601,569	99.0	112.0	108.0		3891	-2.2	1.0	X		108	0,6616		0,0,0,2397,1822	no	coding-synonymous	HCFC1	NM_005334.2		0,0,1,3998,2391	AA,AG,A,GG,G		0.0,0.0265,0.0096		1297/2036	153219959	1,10387	2171	4219	6390	SO:0001819	synonymous_variant	3054	3	121206	36				g.chrX:153219959G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3891C>T	chrX.hg19:g.153219959G>A							HCFC1_ENST00000354233.3_Silent_p.H1228H|HCFC1_ENST00000369984.4_Silent_p.H1297H	p.H1297H	NM_005334.2	NP_005325.2	0	1	1		P51610	HCFC1_HUMAN		17	4857	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Q6P4G5	Silent	SNP	ENST00000310441.7	1	1	hg19	c.3891C>T	CCDS44020.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1		2	2	2	0		0	0	166		166	164	1	2.060000	-20.000000	1	0.170000	NM_005334			233	230		789	774	1		1	1		0	0	166	0		1	1	0	36	0	57	0	233	789
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632																																						ENST00000310441.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2686-2688)Ggg>Agg		host cell factor C1							78.0	88.0	84.0					X																	153221812		2186	4260	6446	SO:0001583	missense	3054	0	0					g.chrX:153221812C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2686G>A	chrX.hg19:g.153221812C>T	ENSP00000309555:p.Gly896Arg						HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R	p.G896R	NM_005334.2	NP_005325.2	0	1	1		P51610	HCFC1_HUMAN		16	3652	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	1	1	hg19	c.2686G>A	CCDS44020.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944006	0.73672	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03831	3.91;3.97;3.79	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.69307	0.963	T	0.04607	-1.0939	10	0.72032	D	0.01	.	16.8335	0.85951	0.0:1.0:0.0:0.0	.	896	P51610	HCFC1_HUMAN	R	896;896;827	ENSP00000309555:G896R;ENSP00000359001:G896R;ENSP00000346174:G827R	ENSP00000309555:G896R	G	-	1	0	0	HCFC1	152875006	152875006	1.000000	0.71417	0.651000	0.29564	0.119000	0.20118	7.373000	0.79623	2.236000	0.73375	0.529000	0.55759	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1		2	2	2	0		0	0	137		137	135	1	2.060000	-3.312969	1	0.170000	NM_005334			127	125		469	458	1		1	1		0	0	137	0		1	9.999997e-01	0	44	0	36	0	127	469
HCFC1	3054	broad.mit.edu	37	X	153223480	153223480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000310441.7	-	11	2990	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	675	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642																																						ENST00000310441.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				47						c.(2023-2025)gCt>gTt		host cell factor C1							36.0	37.0	37.0					X																	153223480		2086	4193	6279	SO:0001583	missense	3054	0	0					g.chrX:153223480G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2024C>T	chrX.hg19:g.153223480G>A	ENSP00000309555:p.Ala675Val						HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	p.A675V	NM_005334.2	NP_005325.2	0	1	1		P51610	HCFC1_HUMAN		11	2990	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	1	1	hg19	c.2024C>T	CCDS44020.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635243	0.87760	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.02;4.0;4.0	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.062535	0.64402	D	0.000003	T	0.03390	0.0098	N	0.19112	0.55	0.37493	D	0.916457	B	0.34103	0.437	B	0.30401	0.115	T	0.59220	-0.7495	10	0.23891	T	0.37	.	16.9627	0.86277	0.0:0.0:1.0:0.0	.	675	P51610	HCFC1_HUMAN	V	675;675;606	ENSP00000309555:A675V;ENSP00000359001:A675V;ENSP00000346174:A606V	ENSP00000309555:A675V	A	-	2	0	0	HCFC1	152876674	152876674	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.272000	0.95707	2.268000	0.75426	0.544000	0.68410	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1		2	2	2	0		0	0	58		58	55	1	2.060000	-20.000000	1	0.170000	NM_005334			45	43		157	154	1		1	1		0	0	58	0		1	9.999760e-01	0	27	0	33	0	45	157
TMEM187	8269	broad.mit.edu	37	X	153247784	153247784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	91						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682																																						ENST00000369982.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(271-273)Gcc>Acc		transmembrane protein 187							32.0	23.0	26.0					X																	153247784		2200	4298	6498	SO:0001583	missense	8269	0	0					g.chrX:153247784G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.271G>A	chrX.hg19:g.153247784G>A	ENSP00000358999:p.Ala91Thr						MIR3202-1_ENST00000580198.1_RNA	p.A91T	NM_003492.2	NP_003483.1	0	1	1		Q14656	TM187_HUMAN		2	1018	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	1	1	hg19	c.271G>A	CCDS14739.1	1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513782	0.12944	.	.	ENSG00000177854	ENST00000369982	T	0.23147	1.92	4.27	-1.51	0.08664	4.27	-1.51	0.08664	.	1.777300	0.04247	U	0.337950	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17745	-1.0359	10	0.27785	T	0.31	.	0.6656	0.00850	0.4055:0.1278:0.2049:0.2618	.	91	Q14656	TM187_HUMAN	T	91	ENSP00000358999:A91T	ENSP00000358999:A91T	A	+	1	0	0	TMEM187	152900978	152900978	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.160000	0.10041	-0.605000	0.05753	0.436000	0.28706	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_003492			43	43		125	123	1		1	1		0	0	40	0		1	9.986627e-01	0	18	0	15	0	43	125
TMEM187	8269	broad.mit.edu	37	X	153248033	153248033	+	Missense_Mutation	SNP	G	G	A	rs368361749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	174						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637																																						ENST00000369982.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(520-522)Gct>Act		transmembrane protein 187		G	THR/ALA	0,3835		0,0,0,1632,571	49.0	38.0	42.0		520	0.9	0.0	X		42	2,6726		0,1,1,2427,1871	no	missense	TMEM187	NM_003492.2	58	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	174/262	153248033	2,10561	2203	4300	6503	SO:0001583	missense	8269	3	121402	31				g.chrX:153248033G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.520G>A	chrX.hg19:g.153248033G>A	ENSP00000358999:p.Ala174Thr						MIR3202-1_ENST00000580198.1_RNA	p.A174T	NM_003492.2	NP_003483.1	0	1	1		Q14656	TM187_HUMAN		2	1267	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	1	1	hg19	c.520G>A	CCDS14739.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215736	0.39102	0.0	2.97E-4	ENSG00000177854	ENST00000369982	T	0.29917	1.55	4.65	0.902	0.19290	4.65	0.902	0.19290	.	0.311733	0.18440	N	0.141173	T	0.20740	0.0499	L	0.50919	1.6	0.09310	N	1	P	0.39964	0.697	B	0.27170	0.077	T	0.06899	-1.0801	10	0.59425	D	0.04	.	8.624	0.33877	0.3436:0.0:0.6564:0.0	.	174	Q14656	TM187_HUMAN	T	174	ENSP00000358999:A174T	ENSP00000358999:A174T	A	+	1	0	0	TMEM187	152901227	152901227	0.519000	0.26242	0.000000	0.03702	0.017000	0.09413	3.037000	0.49775	-0.247000	0.09597	-0.422000	0.05995	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_003492			39	39		139	136	1		1	1		0	0	33	0		1	9.997970e-01	0	23	0	27	0	39	139
FLNA	2316	broad.mit.edu	37	X	153580292	153580292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000369850.3	-	42	7103	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2289					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCCGTCCTTGCGGTCCT	0.622																																						ENST00000369850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(6865-6867)aaG>aaT		filamin A, alpha							48.0	51.0	50.0					X																	153580292		1956	4149	6105	SO:0001583	missense	2316	0	0					g.chrX:153580292C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6867G>T	chrX.hg19:g.153580292C>A	ENSP00000358866:p.Lys2289Asn						FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N|FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000498491.1_5'Flank	p.K2289N	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		42	7103	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	1	1	hg19	c.6867G>T	CCDS48194.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998200	0.35226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.19	4.33	0.51752	5.19	4.33	0.51752	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.82056	2.57	0.51233	D	0.999918	D;P;P;P	0.62365	0.991;0.95;0.797;0.797	D;P;P;P	0.64042	0.921;0.481;0.476;0.476	D	0.94464	0.7679	10	0.72032	D	0.01	.	9.884	0.41251	0.0:0.7734:0.0:0.2266	.	422;2281;2289;2289	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2281;1957;2281;2289;422;2249;229	ENSP00000353467:K2281N;ENSP00000416926:K2281N;ENSP00000358866:K2289N;ENSP00000358872:K422N;ENSP00000358863:K2249N;ENSP00000397824:K229N	ENSP00000358863:K2249N	K	-	3	2	2	FLNA	153233486	153233486	0.900000	0.30661	1.000000	0.80357	0.414000	0.31173	0.006000	0.13152	0.992000	0.38840	-0.297000	0.09499	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-4.583930	1	0.170000				76	74		247	242	1		1	1		0	0	66	0		1	1	0	410	0	1208	0	76	247
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000369850.3	-	22	3714	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1160					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000369850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(3478-3480)Gca>Tca		filamin A, alpha							49.0	58.0	55.0					X																	153588685		2114	4181	6295	SO:0001583	missense	2316	0	0					g.chrX:153588685C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3478G>T	chrX.hg19:g.153588685C>A	ENSP00000358866:p.Ala1160Ser			OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S|FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S	p.A1160S	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		22	3714	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	1	1	hg19	c.3478G>T	CCDS48194.1	1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624820	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	3.08	0.35506	4.92	3.08	0.35506	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066241	0.64402	D	0.000014	D	0.88577	0.6474	M	0.72894	2.215	0.20307	N	0.999911	B;B	0.33826	0.427;0.002	B;B	0.43155	0.41;0.018	T	0.80865	-0.1191	10	0.39692	T	0.17	.	14.6502	0.68792	0.0:0.4961:0.5039:0.0	.	1160;1160	P21333-2;P21333	.;FLNA_HUMAN	S	1160;1133;1160;1160;1160	ENSP00000353467:A1160S;ENSP00000416926:A1160S;ENSP00000358866:A1160S;ENSP00000358863:A1160S	ENSP00000358863:A1160S	A	-	1	0	0	FLNA	153241879	153241879	0.015000	0.18098	0.046000	0.18839	0.301000	0.27625	0.391000	0.20784	0.871000	0.35750	0.525000	0.51046	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1		2	2	2	0		0	0	91		91	90	1	2.060000	-20.000000	1	0.170000				74	71		243	240	1		1	1		0	0	91	0		1	1	0	193	0	660	0	74	243
FLNA	2316	broad.mit.edu	37	X	153590625	153590625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000369850.3	-	18	2877	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000422373.1_Missense_Mutation_p.G881S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	881					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACTGAGGCCAGGGCCCTCG	0.662																																						ENST00000369850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(2641-2643)Ggc>Agc		filamin A, alpha							68.0	71.0	70.0					X																	153590625		2071	4180	6251	SO:0001583	missense	2316	0	0					g.chrX:153590625C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2641G>A	chrX.hg19:g.153590625C>T	ENSP00000358866:p.Gly881Ser						FLNA_ENST00000422373.1_Missense_Mutation_p.G881S|FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S	p.G881S	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		18	2877	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	1	1	hg19	c.2641G>A	CCDS48194.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781649	0.90282	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.91	4.91	0.64330	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97256	0.9103	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98623	1.0668	10	0.87932	D	0	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	881;881	P21333-2;P21333	.;FLNA_HUMAN	S	881;854;881;881;881	ENSP00000353467:G881S;ENSP00000416926:G881S;ENSP00000358866:G881S;ENSP00000358863:G881S	ENSP00000358863:G881S	G	-	1	0	0	FLNA	153243819	153243819	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1		2	2	2	0		0	0	125		125	124	1	2.060000	-20.000000	1	0.170000				111	109		385	379	1		1	1		0	0	125	0		1	1	0	260	0	725	0	111	385
FLNA	2316	broad.mit.edu	37	X	153592400	153592400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	ENST00000369850.3	-	15	2506	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000422373.1_Missense_Mutation_p.S757N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	757					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGAAGGGGCTGTTGGGGAT	0.572																																						ENST00000369850.3	0.700000	0.370000	6.200000e-01	4.400000e-01	0.520000	0.536121	0.520000	0.520000																										0				6						c.(2269-2271)aGc>aAc		filamin A, alpha							93.0	100.0	98.0					X																	153592400		2086	4180	6266	SO:0001583	missense	2316	0	0					g.chrX:153592400C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2270G>A	chrX.hg19:g.153592400C>T	ENSP00000358866:p.Ser757Asn						FLNA_ENST00000422373.1_Missense_Mutation_p.S757N|FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N	p.S757N	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		15	2506	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	1	1	hg19	c.2270G>A	CCDS48194.1	0	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839016	0.91117	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.95	4.95	0.65309	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97453	1.0029	10	0.87932	D	0	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	757;757	P21333-2;P21333	.;FLNA_HUMAN	N	757;730;757;757;757	ENSP00000353467:S757N;ENSP00000416926:S757N;ENSP00000358866:S757N;ENSP00000358863:S757N	ENSP00000358863:S757N	S	-	2	0	0	FLNA	153245594	153245594	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.815000	0.86186	2.049000	0.60858	0.525000	0.51046	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	0		2	2	2	0		0	0	173		173	172	1	2.060000	-3.314363	1	0.170000				36	35		769	754	0		1	1		0	0	173	0		1	1	0	46	0	670	0	36	769
FLNA	2316	broad.mit.edu	37	X	153592426	153592426	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000369850.3	-	15	2480	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000422373.1_Silent_p.S748S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	748					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTCCCCAGGACACCATGG	0.597																																						ENST00000369850.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(2242-2244)tcC>tcA		filamin A, alpha							83.0	90.0	87.0					X																	153592426		2079	4189	6268	SO:0001819	synonymous_variant	2316	0	0					g.chrX:153592426G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2244C>A	chrX.hg19:g.153592426G>T							FLNA_ENST00000422373.1_Silent_p.S748S|FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S	p.S748S	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		15	2480	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	1	1	hg19	c.2244C>A	CCDS48194.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	0		2	2	2	0		0	0	162		162	160	1	2.060000	-3.636981	1	0.170000				147	144		558	546	1		1	1		0	0	162	0		1	1	0	172	0	691	0	147	558
RPL10	6134	broad.mit.edu	37	X	153627922	153627922	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000369817.2	+	5	753	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000406022.2_Silent_p.Q8Q|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Silent_p.Q59Q			P27635	RL10_HUMAN	ribosomal protein L10	59					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)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATATGAGCAGCTGTCCTCTG	0.507																																						ENST00000369817.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				8						c.(175-177)caG>caA		ribosomal protein L10							108.0	106.0	107.0					X																	153627922		2203	4300	6503	SO:0001819	synonymous_variant	6134	0	0					g.chrX:153627922G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.177G>A	chrX.hg19:g.153627922G>A							RPL10_ENST00000406022.2_Silent_p.Q8Q|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Silent_p.Q59Q	p.Q59Q			0	1	1		P27635	RL10_HUMAN		5	753	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Silent	SNP	ENST00000369817.2	1	1	hg19	c.177G>A	CCDS14746.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_006013			122	119		365	359	1		1	1		0	0	112	0		1	1	0	3059	0	4216	0	122	365
ATP6AP1	537	broad.mit.edu	37	X	153663798	153663798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	384					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					GGGTAGTCTCCTCGTGGCCCG	0.622																																						ENST00000369762.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(1150-1152)Ctc>Atc		ATPase, H+ transporting, lysosomal accessory protein 1							56.0	49.0	51.0					X																	153663798		2203	4300	6503	SO:0001583	missense	537	0	0					g.chrX:153663798C>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1150C>A	chrX.hg19:g.153663798C>A	ENSP00000358777:p.Leu384Ile						GDI1_ENST00000447750.2_5'Flank	p.L384I	NM_001183.4	NP_001174.2	0	1	1		Q15904	VAS1_HUMAN		9	1211	+	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)		A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	1	1	hg19	c.1150C>A	CCDS35451.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195889	0.78902	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	4.81	0.61882	5.69	4.81	0.61882	.	0.059264	0.64402	D	0.000001	T	0.79393	0.4438	M	0.82823	2.61	0.42872	D	0.994145	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81165	-0.1057	9	0.52906	T	0.07	-16.6749	12.5541	0.56244	0.1672:0.8328:0.0:0.0	.	344;384	B3KR70;Q15904	.;VAS1_HUMAN	I	384;208	.	ENSP00000358777:L384I	L	+	1	0	0	ATP6AP1	153316992	153316992	1.000000	0.71417	0.880000	0.34516	0.390000	0.30446	5.372000	0.66156	1.118000	0.41863	0.596000	0.82720	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	1	0	1		2	2	2	0		0	0	87		87	85	1	2.060000	-4.129279	1	0.170000	NM_001183			61	61		204	201	1		1	1		0	0	87	0		1	1	0	333	0	609	0	61	204
GDI1	2664	broad.mit.edu	37	X	153668321	153668321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153668321G>A	ENST00000447750.2	+	5	757	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	141					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					CGGCGCTTCCGCAAGTTCCTG	0.552																																						ENST00000447750.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(421-423)cGc>cAc		GDP dissociation inhibitor 1							290.0	274.0	279.0					X																	153668321		2203	4300	6503	SO:0001583	missense	2664	0	0					g.chrX:153668321G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.422G>A	chrX.hg19:g.153668321G>A	ENSP00000394071:p.Arg141His							p.R141H	NM_001493.2	NP_001484.1	0	1	1		P31150	GDIA_HUMAN		5	757	+	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)		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	1	0	hg19	c.422G>A	CCDS35452.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.179100	0.94846	.	.	ENSG00000203879	ENST00000447750	T	0.59638	0.25	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.054305	0.64402	D	0.000001	T	0.73806	0.3634	M	0.82517	2.595	0.80722	D	1	D;B	0.64830	0.994;0.25	P;B	0.59056	0.851;0.02	T	0.78214	-0.2291	10	0.59425	D	0.04	-24.8804	14.3722	0.66849	0.0:0.0:1.0:0.0	.	141;141	B4DH24;P31150	.;GDIA_HUMAN	H	141	ENSP00000394071:R141H	ENSP00000394071:R141H	R	+	2	0	0	GDI1	153321515	153321515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.265000	0.75225	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	0	0	0		22	7	2	2		2	2	468		468	463	1	2.060000	-20.000000	1	0.170000	NM_001493			479	472		1524	1507	1		1	1		2	0	468	0		1	1	0	202	0	222	0	479	1524
PLXNA3	55558	broad.mit.edu	37	X	153692584	153692584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	586					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CGAGGCGGTCCTGCTGCCCTC	0.687																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				48						c.(1756-1758)Ctg>Atg		plexin A3							27.0	25.0	26.0					X																	153692584		2195	4295	6490	SO:0001583	missense	55558	0	0					g.chrX:153692584C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1756C>A	chrX.hg19:g.153692584C>A	ENSP00000358696:p.Leu586Met							p.L586M	NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		8	1931	+	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)		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	1	1	hg19	c.1756C>A	CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302047	0.23736	.	.	ENSG00000130827	ENST00000369682	T	0.00995	5.46	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.581307	0.18180	N	0.149177	T	0.01940	0.0061	L	0.53249	1.67	0.31420	N	0.674375	B	0.33212	0.402	B	0.40199	0.322	T	0.23547	-1.0185	10	0.34782	T	0.22	.	12.8614	0.57915	0.0:0.8401:0.1599:0.0	.	586	P51805	PLXA3_HUMAN	M	586	ENSP00000358696:L586M	ENSP00000358696:L586M	L	+	1	2	2	PLXNA3	153345778	153345778	0.000000	0.05858	0.998000	0.56505	0.157000	0.22087	0.001000	0.13038	2.295000	0.77249	0.597000	0.82753	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_017514			28	27		96	94	1		1	1		0	0	23	0		1	9.601982e-01	0	9	0	12	0	28	96
PLXNA3	55558	broad.mit.edu	37	X	153694277	153694277	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CTGCTCCACAGATCCACCCTC	0.677																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.e14-1		plexin A3							47.0	46.0	46.0					X																	153694277		2202	4300	6502	SO:0001630	splice_region_variant	55558	0	0					g.chrX:153694277G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2533-1G>A	chrX.hg19:g.153694277G>A									NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		14	2707	+	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)		Q5HY36	Splice_Site	SNP	ENST00000369682.3	1	1	hg19		CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771244	0.31320	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.17	4.31	0.51392	5.17	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8804	0.52571	0.0888:0.0:0.9112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PLXNA3	153347471	153347471	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	6.242000	0.72376	0.956000	0.37904	0.600000	0.82982	.	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-20.000000	1	0.170000	NM_017514	Intron		63	62		230	226	1		1	1		0	0	57	0		1	8.023491e-01	0	13	0	0	0	63	230
PLXNA3	55558	broad.mit.edu	37	X	153695925	153695925	+	Missense_Mutation	SNP	G	G	A	rs375560348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	ENST00000369682.3	+	20	3654	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1160	IPT/TIG 4.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					GGCAGCTCCCGCCTCAACTAC	0.657																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999148	0.990000	1.000000																										0				48						c.(3478-3480)cGc>cAc		plexin A3		G	HIS/ARG	0,3806		0,0,0,1625,556	20.0	17.0	18.0		3479	5.4	1.0	X		18	1,6707		0,0,1,2426,1855	no	missense	PLXNA3	NM_017514.3	29	0,0,1,4051,2411	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	1160/1872	153695925	1,10513	2181	4282	6463	SO:0001583	missense	55558	12	119784	32				g.chrX:153695925G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3479G>A	chrX.hg19:g.153695925G>A	ENSP00000358696:p.Arg1160His							p.R1160H	NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		20	3654	+	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)		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	1	1	hg19	c.3479G>A	CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925410	0.73213	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.37	5.37	0.77165	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.80616	2.505	0.53005	D	0.999965	D	0.89917	1.0	D	0.70016	0.967	D	0.88123	0.2833	10	0.87932	D	0	.	10.7533	0.46221	0.0914:0.0:0.9086:0.0	.	1160	P51805	PLXA3_HUMAN	H	1160	ENSP00000358696:R1160H	ENSP00000358696:R1160H	R	+	2	0	0	PLXNA3	153349119	153349119	0.992000	0.36948	1.000000	0.80357	0.735000	0.41995	4.693000	0.61753	2.385000	0.81259	0.529000	0.55759	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-19.999190	1	0.170000	NM_017514			12	12		48	47	0		1	1		0	0	22	0		9.993876e-01	9.642734e-01	0	6	0	20	0	12	48
PLXNA3	55558	broad.mit.edu	37	X	153697552	153697552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1530					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					TGAGGACATGGACCTGGGTGA	0.602																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(4588-4590)Gac>Aac		plexin A3							73.0	59.0	64.0					X																	153697552		2203	4300	6503	SO:0001583	missense	55558	0	0					g.chrX:153697552G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4588G>A	chrX.hg19:g.153697552G>A	ENSP00000358696:p.Asp1530Asn						PLXNA3_ENST00000493546.1_3'UTR	p.D1530N	NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		26	4763	+	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)		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	1	1	hg19	c.4588G>A	CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722944	0.89298	.	.	ENSG00000130827	ENST00000369682	T	0.13901	2.55	5.35	4.48	0.54585	5.35	4.48	0.54585	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111765	0.64402	D	0.000016	T	0.44973	0.1319	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.56715	-0.7933	10	0.87932	D	0	.	13.9752	0.64268	0.0:0.1493:0.8507:0.0	.	1530	P51805	PLXA3_HUMAN	N	1530	ENSP00000358696:D1530N	ENSP00000358696:D1530N	D	+	1	0	0	PLXNA3	153350746	153350746	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	1.005000	0.39183	0.597000	0.82753	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1		2	2	2	0		0	0	104		104	101	1	2.060000	-20.000000	1	0.170000	NM_017514			70	70		268	259	1		1	1		0	0	104	0		1	9.998378e-01	0	20	0	32	0	70	268
PLXNA3	55558	broad.mit.edu	37	X	153698803	153698803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1669					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					GCAGAAGTTCGTGGATGACCT	0.607																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998761	0.990000	1.000000																										0				48						c.(5005-5007)Gtg>Atg		plexin A3							76.0	68.0	71.0					X																	153698803		2203	4300	6503	SO:0001583	missense	55558	0	0					g.chrX:153698803G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5005G>A	chrX.hg19:g.153698803G>A	ENSP00000358696:p.Val1669Met						PLXNA3_ENST00000493546.1_3'UTR	p.V1669M	NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		30	5180	+	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)		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	1	1	hg19	c.5005G>A	CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780325	0.90195	.	.	ENSG00000130827	ENST00000369682	T	0.18174	2.23	5.02	5.02	0.67125	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58289	-0.7662	10	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1669	P51805	PLXA3_HUMAN	M	1669	ENSP00000358696:V1669M	ENSP00000358696:V1669M	V	+	1	0	0	PLXNA3	153351997	153351997	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1		2	2	2	0		0	0	95		95	95	1	2.060000	-18.683160	1	0.170000	NM_017514			52	52		414	405	1		1	1		0	0	95	0		1	9.729210e-01	0	11	0	37	0	52	414
PLXNA3	55558	broad.mit.edu	37	X	153698908	153698908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1704					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					GGCGGACCAGCGCCAGATCAG	0.632																																						ENST00000369682.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(5110-5112)Cgc>Tgc		plexin A3							90.0	80.0	83.0					X																	153698908		2203	4300	6503	SO:0001583	missense	55558	0	0					g.chrX:153698908C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5110C>T	chrX.hg19:g.153698908C>T	ENSP00000358696:p.Arg1704Cys						PLXNA3_ENST00000493546.1_3'UTR	p.R1704C	NM_017514.3	NP_059984.3	0	1	1		P51805	PLXA3_HUMAN		30	5285	+	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)		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	1	1	hg19	c.5110C>T	CCDS14752.1	1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911170	0.72983	.	.	ENSG00000130827	ENST00000369682	T	0.13089	2.62	5.21	5.21	0.72293	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129791	0.50627	D	0.000109	T	0.25975	0.0633	L	0.48642	1.525	0.54753	D	0.999988	D	0.65815	0.995	P	0.62382	0.901	T	0.00824	-1.1551	10	0.87932	D	0	.	10.4064	0.44260	0.3212:0.6788:0.0:0.0	.	1704	P51805	PLXA3_HUMAN	C	1704	ENSP00000358696:R1704C	ENSP00000358696:R1704C	R	+	1	0	0	PLXNA3	153352102	153352102	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.293000	0.43558	2.156000	0.67533	0.529000	0.55759	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	0	0	1		2	2	2	0		0	0	114		114	113	1	2.060000	-20.000000	1	0.170000	NM_017514			118	117		524	516	1		1	1		0	0	114	0		1	9.991055e-01	0	19	0	29	0	118	524
SLC10A3	8273	broad.mit.edu	37	X	153716401	153716401	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000393587.4	-	3	1142	c.879G>T	c.(877-879)gtG>gtT	p.V293V	UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000263512.4_Silent_p.V293V|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V348V|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	293					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			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)					CAGTGGCAGCCACCGTAGAGA	0.627																																						ENST00000393587.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(877-879)gtG>gtT		solute carrier family 10, member 3							59.0	59.0	59.0					X																	153716401		2202	4299	6501	SO:0001819	synonymous_variant	8273	0	0					g.chrX:153716401C>A	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.879G>T	chrX.hg19:g.153716401C>A							SLC10A3_ENST00000263512.4_Silent_p.V293V|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V348V|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V264V|UBL4A_ENST00000369653.4_5'Flank	p.V293V	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	0	1	1		P09131	P3_HUMAN		3	1142	-	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)		Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	1	1	hg19	c.879G>T	CCDS14755.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	1	0	1		2	2	2	0		0	0	112		112	107	1	2.060000	-20.000000	1	0.170000	NM_019848			121	116		372	362	1		1	1		0	0	112	0		1	1	0	92	0	78	0	121	372
SLC10A3	8273	broad.mit.edu	37	X	153716810	153716810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000393587.4	-	3	733	c.470C>A	c.(469-471)cCc>cAc	p.P157H	UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	157					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			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)					AATCAGTGTGGGCGGGGCCTC	0.647																																						ENST00000393587.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(469-471)cCc>cAc		solute carrier family 10, member 3							66.0	66.0	66.0					X																	153716810		2203	4300	6503	SO:0001583	missense	8273	0	0					g.chrX:153716810G>T	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.470C>A	chrX.hg19:g.153716810G>T	ENSP00000377212:p.Pro157His						SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|UBL4A_ENST00000369653.4_5'Flank	p.P157H	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	0	1	1		P09131	P3_HUMAN		3	733	-	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)		Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	1	1	hg19	c.470C>A	CCDS14755.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272864	0.23221	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10005	3.08;2.92;2.97;2.97	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.075236	0.53938	U	0.000052	T	0.32526	0.0832	M	0.73598	2.24	0.46901	D	0.999249	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03840	-1.0999	10	0.59425	D	0.04	-11.0926	13.8157	0.63290	0.0:0.0:1.0:0.0	.	128;157	Q9BSL2;P09131	.;P3_HUMAN	H	128;212;157;157;157	ENSP00000358663:P128H;ENSP00000377211:P212H;ENSP00000263512:P157H;ENSP00000377212:P157H	ENSP00000263512:P157H	P	-	2	0	0	SLC10A3	153370004	153370004	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	3.852000	0.55934	2.229000	0.72834	0.600000	0.82982	CCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	1	0	1		2	2	2	0		0	0	132		132	130	1	2.060000	-5.755916	1	0.170000	NM_019848			157	157		490	477	1		1	1		0	0	132	0		1	1	0	75	0	78	0	157	490
PIR	8544	broad.mit.edu	37	X	15403175	15403175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	PIR_ENST00000380420.5_Missense_Mutation_p.K275T|FIGF_ENST00000297904.3_5'Flank	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	275					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAACCCATTTTTTGCGTTTCT	0.418																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3	0.910000	0.390000	7.700000e-01	5.000000e-01	0.620000	0.641191	0.620000	0.620000																										0				9						c.(823-825)aAa>aCa		pirin (iron-binding nuclear protein)							137.0	119.0	125.0					X																	15403175		2202	4300	6502	SO:0001583	missense	8544	0	0					g.chrX:15403175T>G	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.824A>C	chrX.hg19:g.15403175T>G	ENSP00000369786:p.Lys275Thr						PIR_ENST00000380420.5_Missense_Mutation_p.K275T|FIGF_ENST00000297904.3_5'Flank	p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	0	1	1		O00625	PIR_HUMAN		10	1284	-	Hepatocellular(33;0.183)		Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	1	1	hg19	c.824A>C	CCDS14167.1	0	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575318	0.13623	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44881	0.91;0.91	5.28	4.09	0.47781	5.28	4.09	0.47781	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.302120	0.37178	N	0.002203	T	0.22205	0.0535	N	0.13140	0.3	0.29606	N	0.847304	B	0.15141	0.012	B	0.21151	0.033	T	0.07443	-1.0772	10	0.27082	T	0.32	-0.8345	5.3461	0.16010	0.0:0.0995:0.1951:0.7054	.	275	O00625	PIR_HUMAN	T	275	ENSP00000369785:K275T;ENSP00000369786:K275T	ENSP00000369785:K275T	K	-	2	0	0	PIR	15313096	15313096	0.943000	0.32029	0.989000	0.46669	0.372000	0.29890	0.392000	0.20801	1.871000	0.54225	0.430000	0.28490	AAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	1	0	1		2	2	2	0		0	0	101		101	100	1	2.060000	-19.997230	1	0.170000	NM_003662			20	20		358	350	1		1	1		0	0	101	0		9.999946e-01	9.543273e-01	0	16	0	78	0	20	358
GAB3	139716	broad.mit.edu	37	X	153927748	153927748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S389N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	388					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTTCGATACTGGCTGAAGC	0.532																																						ENST00000369575.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1162-1164)aGt>aAt		GRB2-associated binding protein 3							69.0	63.0	65.0					X																	153927748		2203	4300	6503	SO:0001583	missense	139716	0	0					g.chrX:153927748C>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1163G>A	chrX.hg19:g.153927748C>T	ENSP00000358588:p.Ser388Asn						GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	p.S388N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	0	1	1		Q8WWW8	GAB3_HUMAN		6	1194	-	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)		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	1	1	hg19	c.1163G>A	CCDS14760.1	1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518775	0.13005	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26957	1.7;1.7;1.7	5.85	4.09	0.47781	5.85	4.09	0.47781	.	0.454231	0.28284	N	0.015909	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	P;B;P	0.42871	0.792;0.056;0.682	B;B;B	0.40329	0.326;0.047;0.326	T	0.13202	-1.0518	10	0.02654	T	1	-1.7537	9.8274	0.40921	0.0:0.8291:0.0:0.1709	.	389;389;388	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	388;389;389	ENSP00000358588:S388N;ENSP00000358581:S389N;ENSP00000399588:S389N	ENSP00000358581:S389N	S	-	2	0	0	GAB3	153580942	153580942	0.057000	0.20700	0.003000	0.11579	0.152000	0.21847	1.057000	0.30492	0.623000	0.30267	0.529000	0.55759	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	1	0	1		2	2	2	0		0	0	79		79	77	1	2.060000	-20.000000	1	0.170000	NM_001081573			74	72		306	300	1		1	0		0	0	79	0		1	7.875550e-01	0	0	0	14	0	74	306
F8	2157	broad.mit.edu	37	X	154156894	154156894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1724	F5/8 type A 3.|Plastocyanin-like 5.				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)			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)	ATCCCAGAGCCTCTCCACTGC	0.408																																						ENST00000360256.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(5170-5172)aGg>aAg		coagulation factor VIII, procoagulant component	Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73.0	59.0	64.0					X																	154156894		2203	4300	6503	SO:0001583	missense	2157	0	0					g.chrX:154156894C>T	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.5171G>A	chrX.hg19:g.154156894C>T	ENSP00000353393:p.Arg1724Lys							p.R1724K	NM_000132.3	NP_000123.1	0	1	1		P00451	FA8_HUMAN		14	5371	-	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)		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	1	1	hg19	c.5171G>A	CCDS35457.1	1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192479	0.06259	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.15	1.49	0.22878	5.15	1.49	0.22878	Cupredoxin (2);	0.683124	0.14244	N	0.331866	D	0.90906	0.7142	N	0.03608	-0.345	0.19300	N	0.999977	B	0.10296	0.003	B	0.08055	0.003	D	0.84554	0.0646	10	0.02654	T	1	-1.5746	2.4056	0.04412	0.2282:0.379:0.0:0.3927	.	1724	P00451	FA8_HUMAN	K	1724	ENSP00000353393:R1724K	ENSP00000353393:R1724K	R	-	2	0	0	F8	153810088	153810088	0.466000	0.25823	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.330000	0.23485	0.538000	0.68166	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000				46	45		145	141	1		1			0	0	42	0		1	0	0	0	0	0	0	46	145
PLCXD1	55344	broad.mit.edu	37	X	207360	207360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	104	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652																																						ENST00000381657.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(310-312)Gac>Tac		phosphatidylinositol-specific phospholipase C, X domain containing 1							218.0	185.0	196.0					X																	207360		2203	4296	6499	SO:0001583	missense	55344	0	0					g.chrX:207360G>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.310G>T	chrX.hg19:g.207360G>T	ENSP00000371073:p.Asp104Tyr						PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y	p.D104Y	NM_018390.3	NP_060860.1	0	1	1		Q9NUJ7	PLCX1_HUMAN		4	824	+		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)	A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	1	1	hg19	c.310G>T	CCDS14103.1	1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.582150	0.46006	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.14	2.14	0.27477	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	U	0.000000	T	0.78233	0.4251	.	.	.	0.09310	N	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67507	-0.5653	9	0.87932	D	0	.	9.9412	0.41580	0.0:0.0:1.0:0.0	.	104	Q9NUJ7	PLCX1_HUMAN	Y	104	ENSP00000381976:D104Y;ENSP00000394848:D104Y;ENSP00000371073:D104Y;ENSP00000371079:D104Y;ENSP00000399510:D104Y;ENSP00000405307:D104Y	ENSP00000371073:D104Y	D	+	1	0	0	PLCXD1	147360	147360	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	5.465000	0.66725	0.876000	0.35872	0.398000	0.26397	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	1	0	1		2	2	2	0		0	0	70		70	70	1	2.060000	-20.000000	1	0.170000	NM_018390			66	66		213	210	1		1	1		0	0	70	0		1	9.992501e-01	0	25	0	13	0	66	213
PPP2R3B	28227	broad.mit.edu	37	X	301612	301612	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	413	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGTACTCGAGCTCGAACA	0.652													g|||	10	0.00199681	0.0076	0.0	5008	,	,		14355	0.0		0.0	False		,,,				2504	0.0					ENST00000390665.3	0.650000	0.180000	5.200000e-01	2.700000e-01	0.380000	0.398807	0.380000	0.360000																										0				11						c.(1237-1239)ctC>ctT		protein phosphatase 2, regulatory subunit B'', beta				32,4358		0,32,2163	142.0	104.0	117.0		1239	-0.8	1.0	X	dbSNP_134	117	0,8576		0,0,4288	no	coding-synonymous	PPP2R3B	NM_013239.4		0,32,6451	AA,AG,GG		0.0,0.7289,0.2468		413/576	301612	32,12934	2195	4288	6483	SO:0001819	synonymous_variant	28227	73	120772	51				g.chrX:301612G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1239C>T	chrX.hg19:g.301612G>A								p.L413L	NM_013239.4	NP_037371.2	0	1	1		Q9Y5P8	P2R3B_HUMAN		10	1257	-		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)	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	1	1	hg19	c.1239C>T	CCDS14104.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	0	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-2.946788	1	0.170000	NM_013239			9	9		279	277	0		1	1		0	0	64	0		9.942362e-01	2.274622e-01	0	3	0	23	0	9	279
P2RY8	286530	broad.mit.edu	37	X	1584758	1584758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1584758G>A	ENST00000381297.4	-	2	904	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			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)				GCGCGCCTCCGCTGCTCCCGG	0.662			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4	1.000000	0.380000	9.700000e-01	5.300000e-01	0.730000	0.741233	0.730000	1.000000				Dom	yes			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""				L	L	CRLF2		B-ALL, Downs associated ALL		0				23						c.(694-696)Cgg>Tgg		purinergic receptor P2Y, G-protein coupled, 8							46.0	35.0	39.0					X																	1584758		2203	4293	6496	SO:0001583	missense	286530	0	0					g.chrX:1584758G>A	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.694C>T	chrX.hg19:g.1584758G>A	ENSP00000370697:p.Arg232Trp						P2RY8_ENST00000460672.1_5'Flank	p.R232W	NM_178129.4	NP_835230.1	0	1	1		Q86VZ1	P2RY8_HUMAN		2	904	-		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)		Missense_Mutation	SNP	ENST00000381297.4	1	1	hg19	c.694C>T	CCDS14115.1	0	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539099	0.27475	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.73	-2.73	0.05950	2.73	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.370473	0.22113	U	0.064443	T	0.64875	0.2638	L	0.31476	0.935	0.09310	N	1	D	0.76494	0.999	P	0.60473	0.875	T	0.60073	-0.7334	10	0.87932	D	0	.	4.8963	0.13751	0.0:0.2182:0.2192:0.5626	.	232	Q86VZ1	P2RY8_HUMAN	W	232	ENSP00000370697:R232W	ENSP00000370697:R232W	R	-	1	2	2	P2RY8	1544758	1544758	0.901000	0.30685	0.008000	0.14137	0.500000	0.33767	0.669000	0.25142	-0.839000	0.04212	0.279000	0.19357	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-13.794770	1	0.170000	NM_178129			10	10		153	151	0		1	0		0	0	40	0		9.969788e-01	2.160862e-01	0	0	0	13	0	10	153
P2RY8	286530	broad.mit.edu	37	X	1585098	1585098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			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)				AGCGCTCCACGCTGATACAGG	0.632			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000				Dom	yes			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""				L	L	CRLF2		B-ALL, Downs associated ALL		0				23						c.(352-354)agC>agT		purinergic receptor P2Y, G-protein coupled, 8							108.0	103.0	105.0					X																	1585098		2203	4296	6499	SO:0001819	synonymous_variant	286530	0	0					g.chrX:1585098G>A	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.354C>T	chrX.hg19:g.1585098G>A							P2RY8_ENST00000460672.1_5'Flank	p.S118S	NM_178129.4	NP_835230.1	0	1	1		Q86VZ1	P2RY8_HUMAN		2	564	-		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)		Silent	SNP	ENST00000381297.4	1	1	hg19	c.354C>T	CCDS14115.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	1	0	1		2	2	2	0		0	0	32		32	32	1	2.060000	-19.814880	1	0.170000	NM_178129			26	25		79	79	1		1	0		0	0	32	0		1	4.687787e-01	0	0	0	6	0	26	79
ASMT	438	broad.mit.edu	37	X	1746651	1746651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381229.4	+	4	466	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381241.3_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	144					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	AGAGCTTTTTACGGCCATCTA	0.393																																						ENST00000381229.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(430-432)Acg>Ccg		acetylserotonin O-methyltransferase	Melatonin(DB01065)						269.0	254.0	259.0					X																	1746651		2203	4296	6499	SO:0001583	missense	438	0	0					g.chrX:1746651A>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.430A>C	chrX.hg19:g.1746651A>C	ENSP00000370627:p.Thr144Pro						ASMT_ENST00000381241.3_Missense_Mutation_p.T144P|ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P	p.T144P			0	1	1		P46597	ASMT_HUMAN		4	466	+		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)	B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	1	1	hg19	c.430A>C		1	.	.	.	.	.	.	.	.	.	.	N	5.564	0.288915	0.10513	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.18016	2.24;2.24;2.24	1.48	-0.465	0.12157	1.48	-0.465	0.12157	.	1.013810	0.07922	U	0.976093	T	0.16811	0.0404	L	0.54323	1.7	0.09310	N	0.999999	P;P	0.40250	0.49;0.709	B;B	0.41236	0.124;0.351	T	0.29119	-1.0022	10	0.46703	T	0.11	.	4.4792	0.11759	0.489:0.0:0.511:0.0	.	144;144	P46597-2;P46597-3	.;.	P	144	ENSP00000370639:T144P;ENSP00000370627:T144P;ENSP00000370631:T144P	ENSP00000370627:T144P	T	+	1	0	0	ASMT	1706651	1706651	0.011000	0.17503	0.006000	0.13384	0.106000	0.19336	0.774000	0.26675	0.399000	0.25367	0.206000	0.17768	ACG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	1	0	1		2	2	2	0		0	0	241		241	240	1	2.060000	-20.000000	1	0.170000	NM_004043			206	202		610	598	1		1			0	0	241	0		1	0	0	0	0	0	0	206	610
DHRSX	207063	broad.mit.edu	37	X	2139202	2139202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	291							oxidoreductase activity (GO:0016491)			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)				ATAGGTAATGGCCACCAACTC	0.532																																						ENST00000334651.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(871-873)ggC>ggT		dehydrogenase/reductase (SDR family) X-linked							269.0	236.0	247.0					X																	2139202		2203	4296	6499	SO:0001819	synonymous_variant	207063	0	0					g.chrX:2139202G>A	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.873C>T	chrX.hg19:g.2139202G>A								p.G291G	NM_145177.2	NP_660160.2	0	1	1		Q8N5I4	DHRSX_HUMAN		7	925	-		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)	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	1	1	hg19	c.873C>T	CCDS35195.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	1	0	1		2	2	2	0		0	0	133		133	133	1	2.060000	-20.000000	1	0.170000	NM_145177			104	104		288	281	1		1	1		0	0	133	0		1	1	0	19	0	85	0	104	288
ZBED1	9189	broad.mit.edu	37	X	2406797	2406797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_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	655					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			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)				TTCCGCCTCTGCCCCACTCCG	0.657																																						ENST00000381223.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1963-1965)gCa>gTa		zinc finger, BED-type containing 1							109.0	112.0	111.0					X																	2406797		2203	4296	6499	SO:0001583	missense	9189	0	0					g.chrX:2406797G>A	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.1964C>T	chrX.hg19:g.2406797G>A	ENSP00000370621:p.Ala655Val						ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V	p.A655V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	0	1	1		O96006	ZBED1_HUMAN		2	2167	-		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)	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	1	1	hg19	c.1964C>T	CCDS14118.1	1	.	.	.	.	.	.	.	.	.	.	G	3.572	-0.087486	0.07097	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.06	2.16	0.27623	3.06	2.16	0.27623	Ribonuclease H-like (1);	0.670871	0.11924	U	0.516364	T	0.28333	0.0700	.	.	.	0.09310	N	0.999999	B	0.27498	0.18	B	0.18871	0.023	T	0.11991	-1.0565	8	0.28530	T	0.3	.	11.3878	0.49796	0.0:0.1813:0.8187:0.0	.	655	O96006	ZBED1_HUMAN	V	655	.	ENSP00000370616:A655V	A	-	2	0	0	ZBED1	2416797	2416797	0.320000	0.24616	0.003000	0.11579	0.015000	0.08874	2.377000	0.44300	0.193000	0.20303	0.519000	0.50382	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.657	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1		2	2	2	0		0	0	144		144	143	1	2.060000	-20.000000	1	0.170000	NM_004729			185	184		533	528	1		1	1		0	0	144	0		1	9.999994e-01	0	10	0	51	0	185	533
ZBED1	9189	broad.mit.edu	37	X	2406917	2406917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'UTR	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	615					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			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)				AGGGGCGACGCGCGTGGCCGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17210	0.0		0.0	False		,,,				2504	0.001					ENST00000381223.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(1843-1845)cGc>cAc		zinc finger, BED-type containing 1							120.0	120.0	120.0					X																	2406917		2203	4296	6499	SO:0001583	missense	9189	2	121380	43				g.chrX:2406917C>T	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.1844G>A	chrX.hg19:g.2406917C>T	ENSP00000370621:p.Arg615His						ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H	p.R615H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	0	1	1		O96006	ZBED1_HUMAN		2	2047	-		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)	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	1	1	hg19	c.1844G>A	CCDS14118.1	1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211017	0.39102	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	3.06	0.35304	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.41880	0.1178	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.27020	-1.0086	9	0.72032	D	0.01	.	13.6519	0.62316	0.0:1.0:0.0:0.0	.	615	O96006	ZBED1_HUMAN	H	615	ENSP00000370621:R615H;ENSP00000370620:R615H;ENSP00000370616:R615H	ENSP00000370616:R615H	R	-	2	0	0	ZBED1	2416917	2416917	0.964000	0.33143	0.141000	0.22245	0.139000	0.21198	5.063000	0.64332	1.155000	0.42497	0.519000	0.50382	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1		2	2	2	0		0	0	164		164	159	1	2.060000	-20.000000	1	0.170000	NM_004729			220	219		716	705	1		1	1		0	0	164	0		1	9.999994e-01	0	10	0	57	0	220	716
ZBED1	9189	broad.mit.edu	37	X	2407814	2407814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank	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	316					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			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)				CACCAGTTTGCGGCAGCGCGA	0.622																																						ENST00000381223.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(946-948)cGc>cAc		zinc finger, BED-type containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	64.0	60.0	61.0		947,947,947,	3.1	0.0	X		61	1,8591		0,1,4295	no	missense,missense,missense,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	29,29,29,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	316/695,316/695,316/695,	2407814	1,12997	2203	4296	6499	SO:0001583	missense	9189	4	121406	36				g.chrX:2407814C>T	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.947G>A	chrX.hg19:g.2407814C>T	ENSP00000370621:p.Arg316His						ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H	p.R316H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	0	1	1		O96006	ZBED1_HUMAN		2	1150	-		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)	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	1	1	hg19	c.947G>A	CCDS14118.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991842	0.35131	0.0	1.16E-4	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.28666	1.6;1.6;1.6	3.06	3.06	0.35304	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.447401	0.19468	N	0.113536	T	0.52709	0.1751	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.44847	-0.9301	9	0.52906	T	0.07	-15.8715	13.6519	0.62316	0.0:1.0:0.0:0.0	.	316	O96006	ZBED1_HUMAN	H	316	ENSP00000370621:R316H;ENSP00000370620:R316H;ENSP00000370616:R316H	ENSP00000370616:R316H	R	-	2	0	0	ZBED1	2417814	2417814	0.999000	0.42202	0.022000	0.16811	0.013000	0.08279	5.371000	0.66150	1.155000	0.42497	0.519000	0.50382	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	0	0	1		2	2	2	0		0	0	72		72	70	1	2.060000	-4.778387	1	0.170000	NM_004729			79	77		247	245	1		1	1		0	0	72	0		1	9.999974e-01	0	13	0	49	0	79	247
ZBED1	9189	broad.mit.edu	37	X	2408449	2408449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank	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	104					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			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)				CCTGCCCGGGCTGCTGGGACG	0.667																																						ENST00000381223.4	1.000000	0.850000	1	9.900000e-01	0.990000	0.987972	0.990000	1.000000																										0				25						c.(310-312)caG>caT		zinc finger, BED-type containing 1							79.0	77.0	78.0					X																	2408449		2203	4296	6499	SO:0001583	missense	9189	0	0					g.chrX:2408449C>A	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.312G>T	chrX.hg19:g.2408449C>A	ENSP00000370621:p.Gln104His						ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H	p.Q104H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	0	1	1		O96006	ZBED1_HUMAN		2	515	-		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)	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	1	1	hg19	c.312G>T	CCDS14118.1	1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.158378	0.00321	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	1.71	0.24356	2.62	1.71	0.24356	.	5.059470	0.01243	U	0.008673	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	8	0.27082	T	0.32	-6.024	3.0642	0.06209	0.0:0.4398:0.2263:0.3339	.	104	O96006	ZBED1_HUMAN	H	104	.	ENSP00000370616:Q104H	Q	-	3	2	2	ZBED1	2418449	2418449	0.372000	0.25064	0.003000	0.11579	0.112000	0.19704	0.935000	0.28924	0.150000	0.19136	0.425000	0.28330	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1		2	2	2	0		0	0	99		99	97	1	2.060000	-20.000000	1	0.170000	NM_004729			44	43		404	395	1		1	1		0	0	99	0		1	9.727205e-01	0	3	0	52	0	44	404
XG	7499	broad.mit.edu	37	X	2707735	2707735	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2707735G>T	ENST00000381174.5	+	5	466	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	XG_ENST00000426774.1_Missense_Mutation_p.G81C|XG_ENST00000419513.2_Missense_Mutation_p.G81C			P55808	XG_HUMAN	Xg blood group	81						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCAATTCCGGCAACAGTGG	0.303																																						ENST00000381174.5	1.000000	0.570000	1	9.500000e-01	0.990000	0.960417	0.990000	1.000000																										0				8						c.(241-243)Ggc>Tgc		Xg blood group							32.0	28.0	29.0					X																	2707735		2196	4286	6482	SO:0001583	missense	7499	0	0					g.chrX:2707735G>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.241G>T	chrX.hg19:g.2707735G>T	ENSP00000370566:p.Gly81Cys						XG_ENST00000426774.1_Missense_Mutation_p.G81C|XG_ENST00000419513.2_Missense_Mutation_p.G81C	p.G81C			0	1	1		P55808	XG_HUMAN		5	466	+		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)	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	0	1	hg19	c.241G>T	CCDS14120.1	1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270714	0.23221	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	2.26	1.37	0.22104	2.26	1.37	0.22104	.	0.356545	0.23780	U	0.044625	T	0.29817	0.0745	L	0.49778	1.585	0.09310	N	1	D;D	0.57571	0.98;0.975	P;P	0.55923	0.787;0.681	T	0.07888	-1.0749	10	0.35671	T	0.21	.	4.6521	0.12599	0.2032:0.0:0.7968:0.0	.	81;81	P55808;P55808-3	XG_HUMAN;.	C	81;81;81;59	ENSP00000370566:G81C;ENSP00000411004:G81C;ENSP00000398503:G81C;ENSP00000430005:G59C	ENSP00000370566:G81C	G	+	1	0	0	XG	2717735	2717735	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.121000	0.15667	0.213000	0.20722	-0.192000	0.12808	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.303	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	0	0	1		2	2	2	0		0	0	8		8	8	1	2.060000	-5.913905	1	0.170000	NM_175569			4	4		22	22	0		1	0		0	0	8	0		8.956771e-01	3.694581e-02	0	1	0	1	0	4	22
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000540563.1_Missense_Mutation_p.S307L|ARSE_ENST00000545496.1_Missense_Mutation_p.S377L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GCCGTGATCCGACGTAAAATA	0.473																																						ENST00000381134.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(1054-1056)tCg>tTg		arylsulfatase E (chondrodysplasia punctata 1)							83.0	76.0	79.0					X																	2861177		2203	4300	6503	SO:0001583	missense	415	0	0					g.chrX:2861177G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1055C>T	chrX.hg19:g.2861177G>A	ENSP00000370526:p.Ser352Leu						ARSE_ENST00000540563.1_Missense_Mutation_p.S307L|ARSE_ENST00000545496.1_Missense_Mutation_p.S377L	p.S352L	NM_000047.2	NP_000038.2	0	1	1		P51690	ARSE_HUMAN		8	1121	-		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)	Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	1	1	hg19	c.1055C>T	CCDS14122.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	0	ARSE	2871177	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-20.000000	1	0.170000	NM_000047			61	59		182	179	1		1	1		0	0	49	0		1	9.787441e-01	0	4	0	17	0	61	182
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TTTTCACTTCCTGGTACTCTA	0.453																																						ENST00000381130.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(628-630)tcC>tcA		arylsulfatase family, member H							189.0	126.0	148.0					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527	0	0					g.chrX:2933300C>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	chrX.hg19:g.2933300C>A								p.S210S	NM_001011719.1	NP_001011719.1	0	1	1		Q5FYA8	ARSH_HUMAN		4	630	+		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)		Silent	SNP	ENST00000381130.2	1	1	hg19	c.630C>A	CCDS35198.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-20.000000	1	0.170000	NM_001011719			56	56		127	124	1		1			0	0	34	0		1	0	0	0	0	0	0	56	127
ARSH	347527	broad.mit.edu	37	X	2945456	2945456	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	380					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				GAGCCCACCAGCTTAATGGAC	0.522																																						ENST00000381130.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999962	0.990000	1.000000																										0				34						c.(1138-1140)aGc>aTc		arylsulfatase family, member H							179.0	136.0	150.0					X																	2945456		2203	4300	6503	SO:0001583	missense	347527	0	0					g.chrX:2945456G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1139G>T	chrX.hg19:g.2945456G>T	ENSP00000370522:p.Ser380Ile							p.S380I	NM_001011719.1	NP_001011719.1	0	1	1		Q5FYA8	ARSH_HUMAN		7	1139	+		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)		Missense_Mutation	SNP	ENST00000381130.2	1	1	hg19	c.1139G>T	CCDS35198.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349061	0.41599	.	.	ENSG00000205667	ENST00000381130	D	0.99194	-5.54	3.4	3.4	0.38934	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99118	0.9696	M	0.78456	2.415	0.47994	D	0.99956	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	380	Q5FYA8	ARSH_HUMAN	I	380	ENSP00000370522:S380I	ENSP00000370522:S380I	S	+	2	0	0	ARSH	2955456	2955456	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	7.968000	0.87980	1.328000	0.45358	0.596000	0.82720	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	1	0	1		2	2	2	0		0	0	93		93	92	1	2.060000	-20.000000	1	0.170000	NM_001011719			47	46		300	291	1		1			0	0	93	0		1	0	0	0	0	0	0	47	300
ARSF	416	broad.mit.edu	37	X	3030396	3030396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3030396G>A	ENST00000381127.1	+	11	1793	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	ARSF_ENST00000537104.1_Silent_p.E524E|ARSF_ENST00000359361.2_Silent_p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	524					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)			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)				CTGCCACAGAGCCCCTCCATG	0.542																																						ENST00000381127.1	0.940000	0.470000	8.200000e-01	5.700000e-01	0.680000	0.701820	0.680000	0.680000																										0				38						c.(1570-1572)gaG>gaA		arylsulfatase F							91.0	81.0	84.0					X																	3030396		2203	4300	6503	SO:0001819	synonymous_variant	416	0	0					g.chrX:3030396G>A	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.1572G>A	chrX.hg19:g.3030396G>A							ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	0	1	1		P54793	ARSF_HUMAN		11	1793	+		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)	Q8TCC5	Silent	SNP	ENST00000381127.1	1	1	hg19	c.1572G>A	CCDS14123.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1	1	0	1		2	2	2	0		0	0	127		127	126	1	2.060000	-20.000000	1	0.170000				31	31		498	481	0		1			0	0	127	0		1	0	0	0	0	0	0	31	498
MXRA5	25878	broad.mit.edu	37	X	3235453	3235453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2090	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				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)				CTGCGAGGGGCGGATCTGGGT	0.652																																						ENST00000217939.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				157						c.(6268-6270)cGc>cAc		matrix-remodelling associated 5							34.0	30.0	31.0					X																	3235453		2199	4294	6493	SO:0001583	missense	25878	0	0					g.chrX:3235453C>T	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.6269G>A	chrX.hg19:g.3235453C>T	ENSP00000217939:p.Arg2090His							p.R2090H	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		6	6423	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	1	1	hg19	c.6269G>A	CCDS14124.1	1	.	.	.	.	.	.	.	.	.	.	c	10.34	1.322750	0.23994	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68331	-0.32	3.63	2.74	0.32292	3.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002392	T	0.65995	0.2745	L	0.28014	0.82	0.09310	N	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60058	-0.7337	10	0.56958	D	0.05	.	11.8444	0.52376	0.1766:0.8234:0.0:0.0	.	2090	Q9NR99	MXRA5_HUMAN	H	2090	ENSP00000217939:R2090H	ENSP00000217939:R2090H	R	-	2	0	0	MXRA5	3245453	3245453	0.911000	0.30947	0.008000	0.14137	0.065000	0.16274	2.716000	0.47219	0.386000	0.24997	0.597000	0.82753	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.652	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_015419			22	22		66	65	1		1	1		0	0	23	0		9.999996e-01	1	0	60	0	136	0	22	66
MXRA5	25878	broad.mit.edu	37	X	3240577	3240577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1050						extracellular vesicular exosome (GO:0070062)				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)				GGTGTCTTGAGTGCTTAGACT	0.443																																						ENST00000217939.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				157						c.(3148-3150)aCt>aAt		matrix-remodelling associated 5							175.0	153.0	160.0					X																	3240577		2203	4300	6503	SO:0001583	missense	25878	0	0					g.chrX:3240577G>T	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.3149C>A	chrX.hg19:g.3240577G>T	ENSP00000217939:p.Thr1050Asn							p.T1050N	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		5	3303	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	1	1	hg19	c.3149C>A	CCDS14124.1	1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939047	0.34189	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.29	3.29	0.37713	3.29	3.29	0.37713	.	0.381301	0.18935	U	0.127103	T	0.55689	0.1936	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.51466	-0.8702	10	0.72032	D	0.01	.	7.2354	0.26067	0.2147:0.0:0.7853:0.0	.	1050	Q9NR99	MXRA5_HUMAN	N	1050	ENSP00000217939:T1050N	ENSP00000217939:T1050N	T	-	2	0	0	MXRA5	3250577	3250577	0.001000	0.12720	0.020000	0.16555	0.052000	0.14988	0.470000	0.22084	1.440000	0.47531	0.522000	0.50473	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_015419			116	114		488	477	1		1	1		0	0	118	0		1	1	0	83	0	206	0	116	488
MXRA5	25878	broad.mit.edu	37	X	3241106	3241106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3241106G>T	ENST00000217939.6	-	5	2774	c.2620C>A	c.(2620-2622)Ctt>Att	p.L874I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	874						extracellular vesicular exosome (GO:0070062)				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)				GGTTCAACAAGAATAACTCCA	0.473																																						ENST00000217939.6	0.830000	0.360000	7.100000e-01	4.500000e-01	0.570000	0.588175	0.570000	0.560000																										0				157						c.(2620-2622)Ctt>Att		matrix-remodelling associated 5							101.0	86.0	91.0					X																	3241106		2203	4300	6503	SO:0001583	missense	25878	0	0					g.chrX:3241106G>T	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.2620C>A	chrX.hg19:g.3241106G>T	ENSP00000217939:p.Leu874Ile							p.L874I	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		5	2774	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	1	1	hg19	c.2620C>A	CCDS14124.1	0	.	.	.	.	.	.	.	.	.	.	g	8.253	0.809339	0.16537	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-2.77	0.05877	3.63	-2.77	0.05877	.	2.650130	0.01890	U	0.038484	T	0.40839	0.1133	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.13282	-1.0515	10	0.23891	T	0.37	.	2.7632	0.05313	0.0895:0.2756:0.3498:0.2851	.	874	Q9NR99	MXRA5_HUMAN	I	874	ENSP00000217939:L874I	ENSP00000217939:L874I	L	-	1	0	0	MXRA5	3251106	3251106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.049000	0.03514	-0.353000	0.08224	-0.353000	0.07706	CTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1		2	2	2	0		0	0	116		116	116	1	2.060000	-4.904151	1	0.170000	NM_015419			20	20		393	385	0		1	1		0	0	116	0		9.999946e-01	9.999932e-01	0	18	0	378	0	20	393
MXRA5	25878	broad.mit.edu	37	X	3242815	3242815	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3242815C>A	ENST00000217939.6	-	5	1065	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	304						extracellular vesicular exosome (GO:0070062)				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)				GATGAGCTGGCTGCCACCATC	0.507																																						ENST00000217939.6	0.660000	0.200000	5.300000e-01	2.800000e-01	0.390000	0.416125	0.390000	0.380000																										0				157						c.(910-912)aGc>aTc		matrix-remodelling associated 5							108.0	90.0	96.0					X																	3242815		2203	4300	6503	SO:0001583	missense	25878	0	0					g.chrX:3242815C>A	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.911G>T	chrX.hg19:g.3242815C>A	ENSP00000217939:p.Ser304Ile							p.S304I	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		5	1065	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	0	1	hg19	c.911G>T	CCDS14124.1	0	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216203	0.01542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.08	-3.76	0.04359	3.08	-3.76	0.04359	.	0.975648	0.08345	U	0.960274	T	0.36303	0.0962	N	0.19112	0.55	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.11060	-1.0603	10	0.22109	T	0.4	.	0.9037	0.01280	0.1445:0.2477:0.2838:0.324	.	304	Q9NR99	MXRA5_HUMAN	I	304	ENSP00000217939:S304I	ENSP00000217939:S304I	S	-	2	0	0	MXRA5	3252815	3252815	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.229000	0.02945	-1.964000	0.01012	-0.544000	0.04233	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	0	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-10.774100	1	0.170000	NM_015419			10	9		294	291	0		1	1		0	0	60	0		9.968005e-01	9.928424e-01	0	12	0	242	0	10	294
MXRA5	25878	broad.mit.edu	37	X	3248806	3248806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	66						extracellular vesicular exosome (GO:0070062)				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)				GGCCTGTATGCTATTAAACCT	0.373																																						ENST00000217939.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				157						c.(196-198)aGc>aAc		matrix-remodelling associated 5							66.0	54.0	59.0					X																	3248806		2203	4300	6503	SO:0001583	missense	25878	0	0					g.chrX:3248806C>T	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.197G>A	chrX.hg19:g.3248806C>T	ENSP00000217939:p.Ser66Asn							p.S66N	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		3	351	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	1	1	hg19	c.197G>A	CCDS14124.1	1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619827	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02323	4.34	3.81	2.94	0.34122	3.81	2.94	0.34122	.	0.000000	0.43747	U	0.000527	T	0.04907	0.0132	N	0.10733	0.035	0.24320	N	0.995049	D	0.76494	0.999	D	0.72338	0.977	T	0.33979	-0.9847	10	0.87932	D	0	.	11.0229	0.47728	0.0:0.9039:0.0:0.0961	.	66	Q9NR99	MXRA5_HUMAN	N	66	ENSP00000217939:S66N	ENSP00000217939:S66N	S	-	2	0	0	MXRA5	3258806	3258806	0.994000	0.37717	0.034000	0.17996	0.737000	0.42083	2.643000	0.46604	0.589000	0.29677	0.509000	0.49947	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_015419			28	28		102	97	0		1	1		0	0	30	0		1	1	0	38	0	109	0	28	102
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					extracellular vesicular exosome (GO:0070062)				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)				TGCAGTGGACCTCGCTGGGGA	0.617																																						ENST00000217939.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				157						c.(112-114)gaG>gaT		matrix-remodelling associated 5							58.0	41.0	46.0					X																	3261761		2203	4300	6503	SO:0001583	missense	25878	0	0					g.chrX:3261761C>A	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.114G>T	chrX.hg19:g.3261761C>A	ENSP00000217939:p.Glu38Asp							p.E38D	NM_015419.3	NP_056234.2	0	1	1		Q9NR99	MXRA5_HUMAN		2	268	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	1	1	hg19	c.114G>T	CCDS14124.1	1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266769	0.59540	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02606	4.23	3.17	-0.504	0.11997	3.17	-0.504	0.11997	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	U	0.001690	T	0.07234	0.0183	L	0.41632	1.29	0.24000	N	0.996212	D	0.76494	0.999	D	0.73708	0.981	T	0.08046	-1.0741	10	0.72032	D	0.01	.	9.8629	0.41125	0.0:0.523:0.0:0.477	.	38	Q9NR99	MXRA5_HUMAN	D	38	ENSP00000217939:E38D	ENSP00000217939:E38D	E	-	3	2	2	MXRA5	3271761	3271761	0.981000	0.34729	0.993000	0.49108	0.783000	0.44284	0.003000	0.13083	-0.114000	0.11936	0.506000	0.49869	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_015419			44	44		136	135	1		1	1		0	0	29	0		1	1	0	38	0	110	0	44	136
STS	412	broad.mit.edu	37	X	7252125	7252125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	452					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TACTTAAATGCTGTGCGCTGG	0.478									Ichthyosis																													ENST00000217961.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1354-1356)gCt>gAt		steroid sulfatase (microsomal), isozyme S	Norelgestromin(DB06713)						138.0	115.0	123.0					X																	7252125		2203	4299	6502	SO:0001583	missense	412	0	0		Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chrX:7252125C>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1355C>A	chrX.hg19:g.7252125C>A	ENSP00000217961:p.Ala452Asp							p.A452D	NM_000351.4	NP_000342.2	0	1	1		P08842	STS_HUMAN		9	1575	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	1	1	hg19	c.1355C>A	CCDS14127.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508259	0.85282	.	.	ENSG00000101846	ENST00000217961	D	0.97256	-4.31	3.95	3.95	0.45737	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97758	4.07	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	D	0.99164	1.0862	10	0.87932	D	0	.	12.8957	0.58098	0.0:1.0:0.0:0.0	.	452	P08842	STS_HUMAN	D	452	ENSP00000217961:A452D	ENSP00000217961:A452D	A	+	2	0	0	STS	7262125	7262125	1.000000	0.71417	0.777000	0.31699	0.960000	0.62799	6.102000	0.71486	1.586000	0.49944	0.513000	0.50165	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	1	0	1		2	2	2	0		0	0	92		92	89	1	2.060000	-20.000000	1	0.170000	NM_000351			108	107		327	322	1		1	1		0	0	92	0		1	9.999867e-01	0	21	0	31	0	108	327
VCX3B	425054	broad.mit.edu	37	X	8433520	8433520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8433520C>A	ENST00000381032.1	+	2	336	c.29C>A	c.(28-30)cCt>cAt	p.P10H	VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	10						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCTCGGGACCTCCGGCCAAG	0.607																																						ENST00000381032.1	0.390000	0.170000	3.300000e-01	2.100000e-01	0.260000	0.279015	0.260000	0.270000																										0				11						c.(28-30)cCt>cAt		variable charge, X-linked 3B							74.0	46.0	56.0					X																	8433520		1381	2319	3700	SO:0001583	missense	425054	0	0					g.chrX:8433520C>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.29C>A	chrX.hg19:g.8433520C>A	ENSP00000370420:p.Pro10His						VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H|VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H	p.P10H	NM_001001888.3	NP_001001888.3	0	1	1		Q9H321	VCX3B_HUMAN		2	336	+			C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	0	1	hg19	c.29C>A	CCDS48077.2	0	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082777	0.08533	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	0.421	-0.563	0.11778	0.421	-0.563	0.11778	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D;D	0.53462	0.96;0.96	B;B	0.41299	0.353;0.353	T	0.14392	-1.0474	8	0.72032	D	0.01	.	.	.	.	.	10;10	Q9H321;E7ERZ8	VCX3B_HUMAN;.	H	10	ENSP00000370420:P10H;ENSP00000411785:P10H;ENSP00000414780:P10H;ENSP00000410372:P10H;ENSP00000370417:P10H	ENSP00000370417:P10H	P	+	2	0	0	VCX3B	8393520	8393520	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.438000	0.07232	-0.435000	0.05868	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1	0	0	1		2	2	2	0		0	0	220		220	258	1	2.060000	-3.270105	1	0.170000				23	12		982	337	0		1			0	0	220	0		9.946592e-01	0	0	0	0	0	0	23	982
VCX3B	425054	broad.mit.edu	37	X	8434386	8434386	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	235	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567																																						ENST00000381032.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(703-705)Agt>Ggt		variable charge, X-linked 3B							85.0	219.0	173.0					X																	8434386		2160	4193	6353	SO:0001583	missense	425054	0	0					g.chrX:8434386A>G		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.703A>G	chrX.hg19:g.8434386A>G	ENSP00000370420:p.Ser235Gly						VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_Intron	p.S235G	NM_001001888.3	NP_001001888.3	0	1	1		Q9H321	VCX3B_HUMAN		3	1010	+			C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	1	1	hg19	c.703A>G	CCDS48077.2	1	.	.	.	.	.	.	.	.	.	.	N	7.916	0.737629	0.15574	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.18502	2.21;2.21;2.21	0.601	-0.859	0.10685	0.601	-0.859	0.10685	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35251	-0.9796	9	0.34782	T	0.22	.	3.9426	0.09334	0.7175:0.0:0.2825:0.0	.	205	Q9H321	VCX3B_HUMAN	G	235;205;203	ENSP00000370420:S235G;ENSP00000414780:S205G;ENSP00000370417:S203G	ENSP00000370417:S203G	S	+	1	0	0	VCX3B	8394386	8394386	0.005000	0.15991	0.006000	0.13384	0.028000	0.11728	0.093000	0.15086	-0.284000	0.09102	0.354000	0.21935	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1	1	0	0		2	2	2	0		0	0	308		308	0	1	2.060000	-20.000000	1	0.170000				265	0		963	0	0			0		0	0	308	0		0	0	0	0	0	1	0	265	963
FAM9B	171483	broad.mit.edu	37	X	9000434	9000434	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000327220.5	-	3	461	c.97A>G	c.(97-99)Act>Gct	p.T33A	FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A|FAM9B_ENST00000362066.3_Missense_Mutation_p.T78A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403																																						ENST00000327220.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				11						c.(97-99)Act>Gct		family with sequence similarity 9, member B							252.0	208.0	223.0					X																	9000434		2203	4300	6503	SO:0001583	missense	171483	0	0					g.chrX:9000434T>C		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.97A>G	chrX.hg19:g.9000434T>C	ENSP00000318716:p.Thr33Ala						FAM9B_ENST00000362066.3_Missense_Mutation_p.T78A|FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A	p.T33A			0	1	1		Q8IZU0	FAM9B_HUMAN		3	461	-		Hepatocellular(5;0.219)	Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	1	1	hg19	c.97A>G	CCDS14132.1	1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647061	0.29246	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	0.225	0.225	0.15325	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.20472	-1.0274	7	0.20519	T	0.43	.	.	.	.	.	33;78	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	A	78;33;33	.	ENSP00000318716:T33A	T	-	1	0	0	FAM9B	8960434	8960434	0.110000	0.22057	0.246000	0.24233	0.246000	0.25737	1.087000	0.30865	0.238000	0.21222	0.235000	0.17854	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	1	0	1		2	2	2	0		0	0	247		247	245	1	2.060000	-20.000000	1	0.170000	NM_205849			214	209		755	736	1		1			0	0	247	0		1	0	0	0	0	0	0	214	755
GPR143	4935	broad.mit.edu	37	X	9728834	9728834	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	ENST00000467482.1	-	2	429	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	GPR143_ENST00000380929.2_Missense_Mutation_p.F115L			P51810	GP143_HUMAN	G protein-coupled receptor 143	95					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAATTTGGGAATCCTAACCAC	0.473																																						ENST00000467482.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995065	0.990000	1.000000																										0				15						c.(283-285)Ttc>Ctc		G protein-coupled receptor 143							90.0	66.0	74.0					X																	9728834		2203	4296	6499	SO:0001583	missense	4935	0	0					g.chrX:9728834A>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.283T>C	chrX.hg19:g.9728834A>G	ENSP00000417161:p.Phe95Leu						GPR143_ENST00000380929.2_Missense_Mutation_p.F115L	p.F95L			0	1	1		P51810	GP143_HUMAN		2	429	-		Hepatocellular(5;0.000888)	Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	1	1	hg19	c.283T>C	CCDS14134.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.535|4.535	0.099280|0.099280	0.08681|0.08681	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99207|.	-5.56;-5.56;-5.56|.	4.47|4.47	3.28|3.28	0.37604|0.37604	4.47|4.47	3.28|3.28	0.37604|0.37604	.|.	0.318281|.	0.34484|.	N|.	0.003924|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.47716|0.47716	1.5|1.5	0.20307|0.20307	N|N	0.999918|0.999918	B|.	0.13145|.	0.007|.	B|.	0.16289|.	0.015|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.08599|.	T|.	0.76|.	-5.3468|-5.3468	8.229|8.229	0.31587|0.31587	0.8989:0.0:0.1011:0.0|0.8989:0.0:0.1011:0.0	.|.	95|.	P51810|.	GP143_HUMAN|.	L|T	95;115;11|30	ENSP00000417161:F95L;ENSP00000370316:F115L;ENSP00000406138:F11L|.	ENSP00000370316:F115L|.	F|I	-|-	1|2	0|0	0|0	GPR143|GPR143	9688834|9688834	9688834|9688834	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.019000|0.019000	0.09904|0.09904	3.591000|3.591000	0.53986|0.53986	0.427000|0.427000	0.26145|0.26145	0.380000|0.380000	0.24917|0.24917	TTC|ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-17.011770	1	0.170000	NM_000273			8	8		34	32	1		1	0		0	0	16	0		9.899380e-01	4.545455e-02	0	1	0	1	0	8	34
SHROOM2	357	broad.mit.edu	37	X	9863881	9863881	+	Missense_Mutation	SNP	C	C	T	rs374898048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	645					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGAAGAGCCGGAGCACAGT	0.667																																						ENST00000380913.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999994	0.990000	1.000000																										0				57						c.(1933-1935)Cgg>Tgg		shroom family member 2		C	TRP/ARG	0,3828		0,0,1630,568	15.0	16.0	16.0		1933	-0.7	0.1	X		16	1,6713		0,1,2424,1864	no	missense	SHROOM2	NM_001649.2	101	0,1,4054,2432	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	645/1617	9863881	1,10541	2198	4289	6487	SO:0001583	missense	357	3	120934	27				g.chrX:9863881C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1933C>T	chrX.hg19:g.9863881C>T	ENSP00000370299:p.Arg645Trp							p.R645W	NM_001649.2	NP_001640.1	0	1	1		Q13796	SHRM2_HUMAN		4	2023	+		Hepatocellular(5;0.000888)	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	1	1	hg19	c.1933C>T	CCDS14135.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797175	0.31777	0.0	1.49E-4	ENSG00000146950	ENST00000380913	T	0.49139	0.79	5.04	-0.677	0.11357	5.04	-0.677	0.11357	Apx/shroom, ASD1 (1);	0.744958	0.12658	N	0.449893	T	0.61211	0.2329	L	0.59436	1.845	0.34755	D	0.732147	D	0.76494	0.999	D	0.65987	0.94	T	0.70916	-0.4742	10	0.87932	D	0	-8.1434	14.1036	0.65072	0.4572:0.5428:0.0:0.0	.	645	Q13796	SHRM2_HUMAN	W	645	ENSP00000370299:R645W	ENSP00000370299:R645W	R	+	1	2	2	SHROOM2	9823881	9823881	0.846000	0.29590	0.060000	0.19600	0.043000	0.13939	1.833000	0.39161	-0.131000	0.11578	-0.315000	0.08773	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	1	0	1		2	2	2	0		0	0	27		27	27	1	2.060000	-20.000000	1	0.170000	NM_001649			26	26		104	102	1		1	0		0	0	27	0		1	1.105477e-01	0	0	0	3	0	26	104
SHROOM2	357	broad.mit.edu	37	X	9905433	9905433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1283					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGCCCCAGCCCCTGGGCAC	0.642																																						ENST00000380913.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				57						c.(3847-3849)Ccc>Tcc		shroom family member 2							18.0	18.0	18.0					X																	9905433		2197	4297	6494	SO:0001583	missense	357	0	0					g.chrX:9905433C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3847C>T	chrX.hg19:g.9905433C>T	ENSP00000370299:p.Pro1283Ser						SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	p.P1283S	NM_001649.2	NP_001640.1	0	1	1		Q13796	SHRM2_HUMAN		7	3937	+		Hepatocellular(5;0.000888)	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	1	1	hg19	c.3847C>T	CCDS14135.1	1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175695	0.06421	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.43688	2.51;1.53;0.94	4.98	2.05	0.26809	4.98	2.05	0.26809	.	1.337090	0.04799	N	0.433171	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.63381	0.007;0.914	T	0.34329	-0.9833	10	0.22109	T	0.4	-4.5046	6.3194	0.21208	0.0:0.5636:0.2776:0.1588	.	118;1283	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1283;118;118;118	ENSP00000370299:P1283S;ENSP00000415229:P118S;ENSP00000406724:P118S	ENSP00000370299:P1283S	P	+	1	0	0	SHROOM2	9865433	9865433	0.021000	0.18746	0.026000	0.17262	0.052000	0.14988	0.471000	0.22100	0.343000	0.23821	0.594000	0.82650	CCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	0	0	1		2	2	2	0		0	0	22		22	21	1	2.060000	-20.000000	1	0.170000	NM_001649			37	37		102	100	1		1	0		0	0	22	0		1	6.725883e-01	0	1	0	7	0	37	102
BMX	660	broad.mit.edu	37	X	15552432	15552432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000342014.6_Missense_Mutation_p.L373I|BMX_ENST00000348343.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	373	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CATTCCAAAGCTTATTCATTA	0.338																																						ENST00000357607.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1117-1119)Ctt>Att		BMX non-receptor tyrosine kinase							127.0	123.0	124.0					X																	15552432		2203	4297	6500	SO:0001583	missense	660	0	0					g.chrX:15552432C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1117C>A	chrX.hg19:g.15552432C>A	ENSP00000350224:p.Leu373Ile						BMX_ENST00000342014.6_Missense_Mutation_p.L373I|BMX_ENST00000348343.6_Missense_Mutation_p.L373I	p.L373I			0	1	1		P51813	BMX_HUMAN		12	1305	+	Hepatocellular(33;0.183)		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	1	1	hg19	c.1117C>A	CCDS14168.1	1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338533	0.60963	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.58940	0.3;0.3;0.3	5.07	5.07	0.68467	5.07	5.07	0.68467	SH2 motif (5);	0.000000	0.52532	D	0.000075	T	0.73048	0.3537	M	0.75884	2.315	0.43014	D	0.994558	D	0.76494	0.999	D	0.87578	0.998	T	0.73908	-0.3834	10	0.40728	T	0.16	.	11.31	0.49358	0.1819:0.8181:0.0:0.0	.	373	P51813	BMX_HUMAN	I	373	ENSP00000350224:L373I;ENSP00000308774:L373I;ENSP00000340082:L373I	ENSP00000340082:L373I	L	+	1	0	0	BMX	15462353	15462353	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.803000	0.47924	2.083000	0.62718	0.600000	0.82982	CTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	1	0	1		2	2	2	0		0	0	128		128	125	1	2.060000	-20.000000	1	0.170000	NM_001721			125	123		410	406	1		1	0		0	0	128	0		1	1.393875e-01	0	1	0	2	0	125	410
BMX	660	broad.mit.edu	37	X	15568034	15568034	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000342014.6_Missense_Mutation_p.L623M|BMX_ENST00000348343.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572																																						ENST00000357607.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(1867-1869)Ctg>Atg		BMX non-receptor tyrosine kinase							161.0	137.0	145.0					X																	15568034		2203	4300	6503	SO:0001583	missense	660	0	0					g.chrX:15568034C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1867C>A	chrX.hg19:g.15568034C>A	ENSP00000350224:p.Leu623Met						BMX_ENST00000342014.6_Missense_Mutation_p.L623M|BMX_ENST00000348343.6_Missense_Mutation_p.L623M	p.L623M			0	1	1		P51813	BMX_HUMAN		18	2055	+	Hepatocellular(33;0.183)		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	1	1	hg19	c.1867C>A	CCDS14168.1	1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644307	0.47258	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.68	1.82	0.25136	5.68	1.82	0.25136	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.586451	0.16020	N	0.233329	T	0.70605	0.3243	N	0.17474	0.49	0.23636	N	0.997231	B	0.22541	0.071	B	0.31191	0.125	T	0.62353	-0.6872	10	0.72032	D	0.01	.	7.5313	0.27685	0.151:0.2529:0.5962:0.0	.	623	P51813	BMX_HUMAN	M	623	ENSP00000350224:L623M;ENSP00000308774:L623M;ENSP00000340082:L623M	ENSP00000340082:L623M	L	+	1	2	2	BMX	15477955	15477955	0.998000	0.40836	0.476000	0.27291	0.976000	0.68499	2.077000	0.41557	0.172000	0.19760	-0.223000	0.12442	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	1	0	1		2	2	2	0		0	0	188		188	185	1	2.060000	-3.849073	1	0.170000	NM_001721			160	159		602	590	1		1	1		0	0	188	0		1	5.268744e-01	0	3	0	5	0	160	602
ZRSR2	8233	broad.mit.edu	37	X	15827333	15827333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	150					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TTGGAAAATGGTACCACATGG	0.378			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		X	Xp22.1	Xp22.1	8233	F, S, Mis	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""				L	L			MDS, CLL		0				48						c.(448-450)gGt>gAt		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							112.0	102.0	106.0					X																	15827333		2203	4300	6503	SO:0001583	missense	8233	0	0					g.chrX:15827333G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.449G>A	chrX.hg19:g.15827333G>A	ENSP00000303015:p.Gly150Asp							p.G150D	NM_005089.3	NP_005080.1	0	1	1		Q15696	U2AFM_HUMAN		7	473	+	Hepatocellular(33;0.183)		Q14D69	Missense_Mutation	SNP	ENST00000307771.7	1	1	hg19	c.449G>A	CCDS14172.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378601	0.61735	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.31	3.44	0.39384	5.31	3.44	0.39384	.	0.322273	0.37219	N	0.002193	D	0.86859	0.6034	M	0.69358	2.11	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	D	0.84916	0.0851	10	0.46703	T	0.11	.	11.3939	0.49830	0.0:0.1333:0.725:0.1417	.	150	Q15696	U2AFM_HUMAN	D	150	ENSP00000303015:G150D	ENSP00000303015:G150D	G	+	2	0	0	ZRSR2	15737254	15737254	1.000000	0.71417	0.035000	0.18076	0.985000	0.73830	5.920000	0.70017	0.475000	0.27415	0.594000	0.82650	GGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_005089			143	142		472	466	1		1	1		0	0	147	0		1	1	0	33	0	71	0	143	472
GRPR	2925	broad.mit.edu	37	X	16168591	16168591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	193					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498																																						ENST00000380289.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				25						c.(577-579)Ttc>Gtc		gastrin-releasing peptide receptor							228.0	170.0	190.0					X																	16168591		2203	4300	6503	SO:0001583	missense	2925	0	0					g.chrX:16168591T>G		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.577T>G	chrX.hg19:g.16168591T>G	ENSP00000369643:p.Phe193Val						RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	p.F193V	NM_005314.2	NP_005305.1	0	1	1		P30550	GRPR_HUMAN		2	975	+	Hepatocellular(33;0.183)		B2R910	Missense_Mutation	SNP	ENST00000380289.2	1	1	hg19	c.577T>G	CCDS14174.1	1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822558	0.90873	.	.	ENSG00000126010	ENST00000380289	T	0.70516	-0.49	5.57	5.57	0.84162	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.38649	1.16	0.58432	D	0.999999	P	0.51240	0.943	P	0.54026	0.74	T	0.69258	-0.5192	10	0.30854	T	0.27	-31.2772	13.8099	0.63256	0.0:0.0:0.0:1.0	.	193	P30550	GRPR_HUMAN	V	193	ENSP00000369643:F193V	ENSP00000369643:F193V	F	+	1	0	0	GRPR	16078512	16078512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.857000	0.53885	0.486000	0.48141	TTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	1	0	1		2	2	2	0		0	0	127		127	127	1	2.060000	-20.000000	1	0.170000	NM_005314			154	151		473	453	1		1	0		0	0	127	0		1	6.101900e-02	0	0	0	2	0	154	473
CTPS2	56474	broad.mit.edu	37	X	16635291	16635291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K|CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	510	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378																																						ENST00000443824.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1528-1530)Gaa>Aaa		CTP synthase 2							200.0	181.0	187.0					X																	16635291		2203	4300	6503	SO:0001583	missense	56474	0	0					g.chrX:16635291C>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1528G>A	chrX.hg19:g.16635291C>T	ENSP00000401264:p.Glu510Lys						CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	p.E510K	NM_001144002.1	NP_001137474.1	0	1	1		Q9NRF8	PYRG2_HUMAN		16	2271	-	Hepatocellular(33;0.0997)		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	1	1	hg19	c.1528G>A	CCDS14175.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.068700	0.93950	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.90676	-2.71;-2.71;-2.71	5.91	5.91	0.95273	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98106	1.0417	10	0.87932	D	0	-28.8314	18.7625	0.91858	0.0:1.0:0.0:0.0	.	510	Q9NRF8	PYRG2_HUMAN	K	510	ENSP00000401264:E510K;ENSP00000369590:E510K;ENSP00000352222:E510K	ENSP00000352222:E510K	E	-	1	0	0	CTPS2	16545212	16545212	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.089000	0.76909	2.482000	0.83794	0.600000	0.82982	GAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	1	0	1		2	2	2	0		0	0	166		166	166	1	2.060000	-20.000000	1	0.170000	NM_019857			157	153		500	487	1		1	1		0	0	166	0		1	9.999814e-01	0	29	0	23	0	157	500
TXLNG	55787	broad.mit.edu	37	X	16855753	16855753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	366					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)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313																																						ENST00000380122.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(1096-1098)aCt>aTt		taxilin gamma							90.0	78.0	82.0					X																	16855753		2202	4300	6502	SO:0001583	missense	55787	0	0					g.chrX:16855753C>T	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.1097C>T	chrX.hg19:g.16855753C>T	ENSP00000369465:p.Thr366Ile						TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	p.T366I	NM_018360.2	NP_060830.2	0	1	1		Q9NUQ3	TXLNG_HUMAN		8	1158	+			Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	1	1	hg19	c.1097C>T	CCDS14178.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776198	0.70107	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.049162	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.69078	0.979;0.997	P;D	0.67900	0.81;0.954	T	0.41840	-0.9486	10	0.51188	T	0.08	-13.8671	18.5566	0.91088	0.0:1.0:0.0:0.0	.	234;366	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	I	366;234	ENSP00000369465:T366I;ENSP00000381222:T234I	ENSP00000369465:T366I	T	+	2	0	0	TXLNG	16765674	16765674	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	3.366000	0.52343	2.411000	0.81874	0.436000	0.28706	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	1	0	1		2	2	2	0		0	0	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_018360			37	36		142	142	1		1	1		0	0	68	0		1	9.971501e-01	0	14	0	24	0	37	142
BEND2	139105	broad.mit.edu	37	X	18209204	18209204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368																																						ENST00000380033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(1204-1206)gGg>gAg		BEN domain containing 2							200.0	168.0	179.0					X																	18209204		2203	4300	6503	SO:0001583	missense	139105	0	0					g.chrX:18209204C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1205G>A	chrX.hg19:g.18209204C>T	ENSP00000369372:p.Gly402Glu						BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	p.G402E	NM_153346.4	NP_699177.2	0	1	1		Q8NDZ0	BEND2_HUMAN		8	1337	-			E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	1	1	hg19	c.1205G>A	CCDS14184.1	1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187430	0.01620	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.18502	2.21;2.31	3.03	-0.898	0.10550	3.03	-0.898	0.10550	.	2.177200	0.01931	N	0.041245	T	0.08537	0.0212	N	0.16790	0.44	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.0	T	0.17868	-1.0355	10	0.02654	T	1	-0.0082	3.3303	0.07082	0.2052:0.1411:0.0:0.6537	.	311;402	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	402;311	ENSP00000369372:G402E;ENSP00000369369:G311E	ENSP00000369369:G311E	G	-	2	0	0	BEND2	18119125	18119125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.286000	0.09076	-1.169000	0.01745	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.368	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-3.394321	1	0.170000	NM_153346			53	52		219	216	1		1			0	0	108	0		1	0	0	0	0	0	0	53	219
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453																																						ENST00000380033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.F230F(1)	large_intestine(1)	49						c.(688-690)ttC>ttT		BEN domain containing 2							168.0	135.0	146.0					X																	18221838		2203	4300	6503	SO:0001819	synonymous_variant	139105	0	0					g.chrX:18221838G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.690C>T	chrX.hg19:g.18221838G>A							BEND2_ENST00000380030.3_Silent_p.F230F	p.F230F	NM_153346.4	NP_699177.2	0	1	1		Q8NDZ0	BEND2_HUMAN		5	822	-			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	1	1	hg19	c.690C>T	CCDS14184.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	1	0	1		2	2	2	0		0	0	119		119	115	1	2.060000	-4.530789	1	0.170000	NM_153346			116	115		395	391	1		1			0	0	119	0		1	0	0	0	0	0	0	116	395
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					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)			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)					AAAATCACTGCGCAAGTTGTT	0.493																																						ENST00000379989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2518-2520)Cgc>Tgc		cyclin-dependent kinase-like 5							251.0	266.0	261.0					X																	18646512		2203	4300	6503	SO:0001583	missense	6792	0	0					g.chrX:18646512C>T	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.2518C>T	chrX.hg19:g.18646512C>T	ENSP00000369325:p.Arg840Cys						CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	p.R840C	NM_001037343.1	NP_001032420.1	0	1	1		O76039	CDKL5_HUMAN		19	2803	+	Hepatocellular(33;0.183)		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	1	1	hg19	c.2518C>T	CCDS14186.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246893	0.59103	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.049980	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.64506	0.926	T	0.80054	-0.1543	10	0.87932	D	0	-17.7035	12.2655	0.54676	0.0:0.9208:0.0:0.0792	.	840	O76039	CDKL5_HUMAN	C	840	ENSP00000369332:R840C;ENSP00000369325:R840C	ENSP00000369325:R840C	R	+	1	0	0	CDKL5	18556433	18556433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.398000	0.81561	0.594000	0.82650	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	1	0	1		15	2	2	1		1	1	462		462	456	1	2.060000	-20.000000	1	0.170000	NM_003159			412	401		1533	1475	1		1	1		1	0	462	0		1	9.184079e-01	0	6	0	12	0	412	1533
RS1	6247	broad.mit.edu	37	X	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	159	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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.E159K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527																																						ENST00000379984.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.E159K(1)	skin(1)	15						c.(475-477)Gag>Tag		retinoschisin 1							180.0	137.0	151.0					X																	18662597		2203	4300	6503	SO:0001587	stop_gained	6247	0	0					g.chrX:18662597C>A	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.475G>T	chrX.hg19:g.18662597C>A	ENSP00000369320:p.Glu159*						CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	p.E159*	NM_000330.3	NP_000321.1	0	1	1		O15537	XLRS1_HUMAN		5	515	-	Hepatocellular(33;0.183)		Q0QD39	Nonsense_Mutation	SNP	ENST00000379984.3	0	1	hg19	c.475G>T	CCDS14187.1	1	.	.	.	.	.	.	.	.	.	.	c	36	5.821973	0.96989	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.136484	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5225	0.87791	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000369320:E159X	E	-	1	0	0	RS1	18572518	18572518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.275000	0.78548	2.410000	0.81850	0.591000	0.81541	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1	1	0	1		2	2	2	0		0	0	129		129	129	1	2.060000	-4.698312	1	0.170000				128	122		426	419	1		1			0	0	129	0		1	0	0	0	0	0	0	128	426
CDKL5	6792	broad.mit.edu	37	X	18671647	18671647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'Flank	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1026					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)			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)					TGAGAATGCGGCACTGACGGG	0.517																																						ENST00000379989.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(3076-3078)Gca>Aca		cyclin-dependent kinase-like 5							59.0	45.0	50.0					X																	18671647		2203	4300	6503	SO:0001583	missense	6792	0	0					g.chrX:18671647G>A	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.3076G>A	chrX.hg19:g.18671647G>A	ENSP00000369325:p.Ala1026Thr						RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'Flank|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	p.A1026T	NM_001037343.1	NP_001032420.1	0	1	1		O76039	CDKL5_HUMAN		22	3361	+	Hepatocellular(33;0.183)		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	1	1	hg19	c.3076G>A	CCDS14186.1	1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769422	0.49680	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	4.32	-0.897	0.10553	4.32	-0.897	0.10553	.	1.488660	0.04571	N	0.393227	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.87932	D	0	-0.0154	3.5465	0.07831	0.5001:0.0:0.3104:0.1895	.	1026	O76039	CDKL5_HUMAN	T	1026	ENSP00000369332:A1026T;ENSP00000369325:A1026T	ENSP00000369325:A1026T	A	+	1	0	0	CDKL5	18581568	18581568	0.364000	0.24997	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-0.349000	0.08274	-0.191000	0.12829	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	1	0	1		2	2	2	0		0	0	39		39	38	1	2.060000	-20.000000	1	0.170000	NM_003159			31	29		105	101	1		1			0	0	39	0		1	0	0	0	0	0	0	31	105
PPEF1	5475	broad.mit.edu	37	X	18824540	18824540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	424	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)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTTTCTGCTTCTAATTAT	0.373																																						ENST00000361511.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				43						c.(1270-1272)gCt>gTt		protein phosphatase, EF-hand calcium binding domain 1							130.0	128.0	129.0					X																	18824540		2203	4300	6503	SO:0001583	missense	5475	0	0					g.chrX:18824540C>T	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.1271C>T	chrX.hg19:g.18824540C>T	ENSP00000354871:p.Ala424Val						PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V	p.A424V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	0	1	1		O14829	PPE1_HUMAN		15	1765	+	Hepatocellular(33;0.183)		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	1	1	hg19	c.1271C>T	CCDS14188.1	1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980000	0.53827	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.57	4.71	0.59529	5.57	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.432853	0.21774	N	0.069307	T	0.50633	0.1627	M	0.84773	2.715	0.58432	D	0.999993	D;D;D	0.89917	0.972;1.0;0.972	P;D;P	0.91635	0.536;0.999;0.536	T	0.57081	-0.7872	10	0.72032	D	0.01	-6.5339	13.6719	0.62430	0.0:0.9238:0.0:0.0762	.	362;424;396	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	424;371;362;359	ENSP00000354871:A424V;ENSP00000352806:A371V;ENSP00000341892:A362V;ENSP00000441289:A359V	ENSP00000341892:A362V	A	+	2	0	0	PPEF1	18734461	18734461	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	7.356000	0.79445	1.116000	0.41820	-0.329000	0.08387	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	1	0	1		2	2	2	0		0	0	157		157	157	1	2.060000	-20.000000	1	0.170000	NM_006240			169	168		479	472	1		1	0		0	0	157	0		1	7.246502e-01	0	0	0	9	0	169	479
PHKA2	5256	broad.mit.edu	37	X	18911732	18911732	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1193					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)			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)					AGATTCCTGTGGCTTGGTCTT	0.537																																						ENST00000379942.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				61						c.(3577-3579)gcC>gcA		phosphorylase kinase, alpha 2 (liver)							158.0	155.0	156.0					X																	18911732		2203	4300	6503	SO:0001819	synonymous_variant	5256	0	0					g.chrX:18911732G>T		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.3579C>A	chrX.hg19:g.18911732G>T							PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.A1193A	NM_000292.2	NP_000283.1	0	1	1		P46019	KPB2_HUMAN		33	4244	-	Hepatocellular(33;0.183)		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	1	1	hg19	c.3579C>A	CCDS14190.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	0	0		2	3	2	1		1	0	213		213	212	1	2.060000	-3.503710	1	0.170000	NM_000292			172	169		658	649	1		1	1		1	0	213	0		1	9.989092e-01	0	29	0	21	0	172	658
GPR64	10149	broad.mit.edu	37	X	19028891	19028891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379869.3	-	17	1268	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	369					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)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438																																						ENST00000379869.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1105-1107)Gtc>Atc		G protein-coupled receptor 64							132.0	100.0	111.0					X																	19028891		2203	4300	6503	SO:0001583	missense	10149	20	121394	45				g.chrX:19028891C>T	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.1105G>A	chrX.hg19:g.19028891C>T	ENSP00000369198:p.Val369Ile						GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I	p.V369I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	0	1	1		Q8IZP9	GPR64_HUMAN		17	1268	-	Hepatocellular(33;0.183)		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	1	1	hg19	c.1105G>A	CCDS43923.1	1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183340	0.09495	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.41;1.52;1.52;1.52;1.51;1.56;1.51;1.56;1.56;1.34	5.81	-0.0528	0.13820	5.81	-0.0528	0.13820	.	1.173110	0.06308	N	0.702179	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.20671	0.007;0.012;0.014;0.005;0.005;0.047;0.047;0.047;0.027;0.003;0.008	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.008;0.013;0.008;0.008;0.013;0.013;0.013;0.013;0.004;0.005	T	0.28038	-1.0056	10	0.48119	T	0.1	.	0.9248	0.01322	0.4206:0.2507:0.1223:0.2064	.	339;331;339;345;353;369;347;355;366;369;353	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	369;353;353;345;339;369;347;366;355;339	ENSP00000369202:V369I;ENSP00000369207:V353I;ENSP00000346845:V353I;ENSP00000369205:V345I;ENSP00000350152:V339I;ENSP00000369198:V369I;ENSP00000353421:V347I;ENSP00000350680:V366I;ENSP00000349015:V355I;ENSP00000344972:V339I	ENSP00000344972:V339I	V	-	1	0	0	GPR64	18938812	18938812	0.199000	0.23386	0.001000	0.08648	0.050000	0.14768	-0.188000	0.09642	-0.065000	0.13021	0.600000	0.82982	GTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2	1	0	1		2	2	2	0		0	0	109		109	109	1	2.060000	-4.204942	1	0.170000				86	85		301	296	1		1	1		0	0	109	0		1	3.096436e-01	0	2	0	3	0	86	301
PDHA1	5160	broad.mit.edu	37	X	19373539	19373539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000422285.2	+	7	781	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	226					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)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGAGAATAATCGCTATGGAAT	0.458																																						ENST00000422285.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(676-678)Cgc>Tgc		pyruvate dehydrogenase (lipoamide) alpha 1							137.0	130.0	132.0					X																	19373539		2203	4300	6503	SO:0001583	missense	5160	0	0					g.chrX:19373539C>T		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.676C>T	chrX.hg19:g.19373539C>T	ENSP00000394382:p.Arg226Cys						PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C	p.R226C			0	1	1		P08559	ODPA_HUMAN		7	781	+	Hepatocellular(33;0.183)		A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	1	1	hg19	c.676C>T	CCDS14192.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337215	0.81911	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.76	4.9	0.64082	5.76	4.9	0.64082	Dehydrogenase, E1 component (1);	0.095399	0.64402	D	0.000001	D	0.97173	0.9076	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.56398	0.773;0.797;0.759;0.762;0.759	D	0.96667	0.9493	10	0.62326	D	0.03	-23.0063	9.2392	0.37486	0.1438:0.7815:0.0:0.0748	.	195;233;226;264;226	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	C	264;233;195;226	ENSP00000369134:R264C;ENSP00000438550:R233C;ENSP00000440761:R195C;ENSP00000394382:R226C	ENSP00000369134:R264C	R	+	1	0	0	PDHA1	19283460	19283460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.313000	0.45069	0.594000	0.82650	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1	1	0	1		2	2	2	0		0	0	195		195	195	1	2.060000	-4.561378	1	0.170000				187	185		657	649	1		1	1		0	0	195	0		1	1	0	161	0	73	0	187	657
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			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)					GCCGCAACCAGTCTATAAGCT	0.403																																						ENST00000338883.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999713	0.990000	1.000000																										0				42						c.(3736-3738)gaC>gaT		mitogen-activated protein kinase kinase kinase 15							107.0	107.0	107.0					X																	19379653		2203	4300	6503	SO:0001819	synonymous_variant	389840	0	0					g.chrX:19379653G>A	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.3738C>T	chrX.hg19:g.19379653G>A							PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR	p.D1246D	NM_001001671.3	NP_001001671.3	0	1	1		Q6ZN16	M3K15_HUMAN		27	3737	-	Hepatocellular(33;0.183)		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	1	1	hg19	c.3738C>T		1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	145		145	143	1	2.060000	-20.000000	1	0.170000	NM_001001671			82	81		658	642	0		1	1		0	0	145	0		1	9.170129e-01	0	14	0	22	0	82	658
MAP3K15	389840	broad.mit.edu	37	X	19413252	19413252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000338883.4	-	16	2140	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			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)					TGAAACAGAGCCCAGGTACTG	0.483																																						ENST00000338883.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(2140-2142)gGc>gAc		mitogen-activated protein kinase kinase kinase 15							167.0	139.0	148.0					X																	19413252		2203	4300	6503	SO:0001583	missense	389840	0	0					g.chrX:19413252C>T	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.2141G>A	chrX.hg19:g.19413252C>T	ENSP00000345629:p.Gly714Asp						MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000518578.1_5'UTR	p.G714D	NM_001001671.3	NP_001001671.3	0	1	1		Q6ZN16	M3K15_HUMAN		16	2140	-	Hepatocellular(33;0.183)		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	1	1	hg19	c.2141G>A		1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373227	0.82573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25579	1.79;1.79;1.79	5.91	5.05	0.67936	5.91	5.05	0.67936	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	0.45597	0.1350	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.42361	-0.9456	10	0.87932	D	0	.	14.1375	0.65297	0.0:0.9264:0.0:0.0736	.	189;714	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	714;149;546	ENSP00000345629:G714D;ENSP00000352093:G149D;ENSP00000428356:G546D	ENSP00000345629:G714D	G	-	2	0	0	MAP3K15	19323173	19323173	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	7.429000	0.80309	1.243000	0.43853	0.597000	0.82753	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	188		188	186	1	2.060000	-20.000000	1	0.170000	NM_001001671			139	137		516	508	1		1	0		0	0	188	0		1	0	0	0	0	1	0	139	516
MAP7D2	256714	broad.mit.edu	37	X	20074873	20074873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				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						TGCTGTGTGCGCTCCAGGGAC	0.557																																						ENST00000379651.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(409-411)Cgc>Tgc		MAP7 domain containing 2							99.0	70.0	80.0					X																	20074873		2203	4300	6503	SO:0001583	missense	256714	0	0					g.chrX:20074873G>A	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.409C>T	chrX.hg19:g.20074873G>A	ENSP00000368972:p.Arg137Cys						MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C	p.R137C	NM_152780.3	NP_689993.2	0	1	1		Q96T17	MA7D2_HUMAN		4	427	-			B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	1	1	hg19	c.409C>T	CCDS14195.1	1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426952	0.43122	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.12774	2.65;2.65;3.04;2.65;2.65	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72479	2.2	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	0.91635	0.92;0.963;0.963;0.999;0.92;0.963	T	0.23440	-1.0188	10	0.87932	D	0	-9.6776	18.3055	0.90179	0.0:0.0:1.0:0.0	.	137;93;137;137;137;8	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	C	137;137;8;137;93;137	ENSP00000368972:R137C;ENSP00000368964:R137C;ENSP00000440691:R8C;ENSP00000388239:R137C;ENSP00000413301:R93C	ENSP00000332677:R137C	R	-	1	0	0	MAP7D2	19984794	19984794	1.000000	0.71417	0.729000	0.30791	0.238000	0.25445	5.118000	0.64673	2.349000	0.79799	0.506000	0.49869	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	1	0	1		2	2	2	0		0	0	71		71	71	1	2.060000	-3.794154	1	0.170000	NM_152780			60	59		221	216	1		1	0		0	0	71	0		1	4.705619e-02	0	0	0	2	0	60	221
MAP7D2	256714	broad.mit.edu	37	X	20134917	20134917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	ENST00000379651.3	-	1	99	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000452324.3_5'Flank|MAP7D2_ENST00000443379.3_Silent_p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	27					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				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						CCGGTTCTGCGATCTTCCCTG	0.716																																						ENST00000379651.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(79-81)atC>atT		MAP7 domain containing 2							17.0	18.0	18.0					X																	20134917		2200	4291	6491	SO:0001819	synonymous_variant	256714	3	120610	28				g.chrX:20134917G>A	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.81C>T	chrX.hg19:g.20134917G>A							MAP7D2_ENST00000443379.3_Silent_p.I27I|MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000452324.3_5'Flank	p.I27I	NM_152780.3	NP_689993.2	0	1	1		Q96T17	MA7D2_HUMAN		1	99	-			B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	0	1	hg19	c.81C>T	CCDS14195.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-20.000000	1	0.170000	NM_152780			27	27		50	49	0		1			0	0	12	0		1	0	0	0	0	0	0	27	50
CNKSR2	22866	broad.mit.edu	37	X	21519642	21519642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000379510.3	+	8	782	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348																																						ENST00000379510.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999988	0.990000	1.000000																										0				61						c.(745-747)cCt>cAt		connector enhancer of kinase suppressor of Ras 2							47.0	44.0	45.0					X																	21519642		2202	4299	6501	SO:0001583	missense	22866	0	0					g.chrX:21519642C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.746C>A	chrX.hg19:g.21519642C>A	ENSP00000368824:p.Pro249His						CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H	p.P249H	NM_014927.3	NP_055742.2	0	1	1		Q8WXI2	CNKR2_HUMAN		8	782	+			B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	1	1	hg19	c.746C>A	CCDS14198.1	1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893322	0.72524	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.98	5.09	0.68999	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92604	3.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.99;0.987;0.992	T	0.74287	-0.3714	10	0.87932	D	0	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	249	ENSP00000397906:P249H;ENSP00000444633:P249H;ENSP00000279451:P249H;ENSP00000368824:P249H	ENSP00000279451:P249H	P	+	2	0	0	CNKSR2	21429563	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-3.392360	1	0.170000	NM_014927			27	27		121	120	1		1	0		0	0	34	0		1	3.851974e-01	0	0	0	7	0	27	121
KLHL34	257240	broad.mit.edu	37	X	21674239	21674239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	ENST00000379499.2	-	1	2209	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	556						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTAGGGCAGCGGCCGCAACC	0.677																																						ENST00000379499.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.997165	0.990000	1.000000																										0				26						c.(1666-1668)ccG>ccA		kelch-like family member 34							13.0	12.0	12.0					X																	21674239		2174	4241	6415	SO:0001819	synonymous_variant	257240	0	0					g.chrX:21674239C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1668G>A	chrX.hg19:g.21674239C>T								p.P556P	NM_153270.1	NP_695002.1	0	1	1		Q8N239	KLH34_HUMAN		1	2209	-				Silent	SNP	ENST00000379499.2	0	1	hg19	c.1668G>A	CCDS14199.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.677	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	1	0	0		2	2	2	0		0	0	8		8	7	1	2.060000	-19.673930	1	0.170000	NM_153270			10	10		45	45	0		1			0	0	8	0		9.977818e-01	0	0	0	0	0	0	10	45
KLHL34	257240	broad.mit.edu	37	X	21675171	21675171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	246						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682													C|||	1	0.000264901	0.0008	0.0	3775	,	,		10801	0.0		0.0	False		,,,				2504	0.0					ENST00000379499.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(736-738)Gcc>Acc		kelch-like family member 34							18.0	18.0	18.0					X																	21675171		2198	4293	6491	SO:0001583	missense	257240	2	120920	25				g.chrX:21675171C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.736G>A	chrX.hg19:g.21675171C>T	ENSP00000368813:p.Ala246Thr							p.A246T	NM_153270.1	NP_695002.1	0	1	1		Q8N239	KLH34_HUMAN		1	1277	-				Missense_Mutation	SNP	ENST00000379499.2	1	1	hg19	c.736G>A	CCDS14199.1	1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692502	0.00731	.	.	ENSG00000185915	ENST00000379499	T	0.72505	-0.66	4.65	-0.922	0.10468	4.65	-0.922	0.10468	.	0.198499	0.44097	N	0.000496	T	0.46171	0.1379	L	0.31578	0.945	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14615	-1.0466	10	0.12430	T	0.62	.	3.0359	0.06122	0.13:0.4688:0.248:0.1531	.	246	Q8N239	KLH34_HUMAN	T	246	ENSP00000368813:A246T	ENSP00000368813:A246T	A	-	1	0	0	KLHL34	21585092	21585092	0.000000	0.05858	0.009000	0.14445	0.381000	0.30169	-0.519000	0.06260	-0.187000	0.10516	0.422000	0.28245	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	NM_153270			33	32		113	108	1		1			0	0	24	0		1	0	0	0	0	0	0	33	113
SMPX	23676	broad.mit.edu	37	X	21755811	21755811	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	46					striated muscle contraction (GO:0006941)	costamere (GO:0043034)|M band (GO:0031430)|muscle tendon junction (GO:0005927)|nucleus (GO:0005634)				breast(1)|endometrium(1)	2						GGTGGGAGGAACACCCTGAAG	0.408																																						ENST00000379494.3	1.000000	0.640000	1	8.000000e-01	0.980000	0.923280	0.980000	1.000000																										0				2						c.(136-138)gTt>gCt		small muscle protein, X-linked							83.0	74.0	77.0					X																	21755811		2203	4300	6503	SO:0001583	missense	23676	0	0					g.chrX:21755811A>G		CCDS14200.1	Xp22.2-p22.1	2014-01-28			ENSG00000091482	ENSG00000091482			11122	protein-coding gene	gene with protein product		300226	"""deafness, X-linked 6, sensorineural"""	DFN6		21893181	Standard	NM_014332		Approved	DFNX4	uc004daa.3	Q9UHP9	OTTHUMG00000021235	ENST00000379494.3:c.137T>C	chrX.hg19:g.21755811A>G	ENSP00000368808:p.Val46Ala						SMPX_ENST00000494525.1_5'UTR	p.V46A	NM_014332.2	NP_055147.1	0	1	1		Q9UHP9	SMPX_HUMAN		4	370	-			B1AWX2	Missense_Mutation	SNP	ENST00000379494.3	1	1	hg19	c.137T>C	CCDS14200.1	1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261572	0.10239	.	.	ENSG00000091482	ENST00000379494	.	.	.	6.11	0.0316	0.14171	6.11	0.0316	0.14171	.	0.883982	0.10193	N	0.704369	T	0.21509	0.0518	.	.	.	0.25343	N	0.988934	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	8	0.09338	T	0.73	-3.5021	10.4529	0.44533	0.5545:0.0:0.4455:0.0	.	46	Q9UHP9	SMPX_HUMAN	A	46	.	ENSP00000368808:V46A	V	-	2	0	0	SMPX	21665732	21665732	0.000000	0.05858	0.992000	0.48379	0.887000	0.51463	-1.951000	0.01529	0.005000	0.14708	-0.287000	0.09952	GTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056023.1	1	0	1		2	2	2	0		0	0	48		48	47	1	2.060000	-20.000000	1	0.170000	NM_014332			23	23		252	249	0		1	0		0	0	48	0		9.999994e-01	7.791601e-03	0	0	0	2	0	23	252
PHEX	5251	broad.mit.edu	37	X	22129647	22129647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	381					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTAGCAGGCGCTTTCAGTAT	0.383																																						ENST00000379374.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1141-1143)cGc>cAc		phosphate regulating endopeptidase homolog, X-linked							151.0	144.0	146.0					X																	22129647		2203	4300	6503	SO:0001583	missense	5251	0	0					g.chrX:22129647G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1142G>A	chrX.hg19:g.22129647G>A	ENSP00000368682:p.Arg381His						PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H	p.R381H	NM_000444.4	NP_000435.3	0	1	1		P78562	PHEX_HUMAN		10	1707	+			O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	1	1	hg19	c.1142G>A	CCDS14204.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838748	0.91117	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.58	5.58	0.84498	5.58	5.58	0.84498	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.92463	0.5979	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	381;381	F5GXU4;P78562	.;PHEX_HUMAN	H	381;381;284;84	ENSP00000368682:R381H;ENSP00000440362:R381H;ENSP00000439418:R284H;ENSP00000443531:R84H	ENSP00000368682:R381H	R	+	2	0	0	PHEX	22039568	22039568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	1	0	1		2	2	2	0		0	0	164		164	162	1	2.060000	-20.000000	1	0.170000	NM_000444			198	193		557	551	1		1	0		0	0	164	0		1	0	0	0	0	1	0	198	557
DDX53	168400	broad.mit.edu	37	X	23020059	23020059	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	629						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358																																						ENST00000327968.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				35						c.(1885-1887)Ttt>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							22.0	23.0	22.0					X																	23020059		2188	4261	6449	SO:0001583	missense	168400	0	0					g.chrX:23020059T>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1885T>G	chrX.hg19:g.23020059T>G	ENSP00000368667:p.Phe629Val						RP11-40F8.2_ENST00000455399.1_lincRNA	p.F629V	NM_182699.3	NP_874358.2	0	1	1		Q86TM3	DDX53_HUMAN		1	1973	+			Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	1	1	hg19	c.1885T>G	CCDS35214.1	1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308209	0.23821	.	.	ENSG00000184735	ENST00000327968	T	0.20200	2.09	4.59	-5.8	0.02347	4.59	-5.8	0.02347	.	3.946380	0.01749	U	0.029825	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.16722	0.016	T	0.30679	-0.9970	10	0.62326	D	0.03	.	7.2613	0.26205	0.1135:0.4525:0.0:0.434	.	629	Q86TM3	DDX53_HUMAN	V	629	ENSP00000368667:F629V	ENSP00000368667:F629V	F	+	1	0	0	DDX53	22929980	22929980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.032000	0.00637	-1.289000	0.02375	-1.381000	0.01174	TTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_182699			37	37		139	134	1		1			0	0	46	0		1	0	0	0	0	0	0	37	139
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507																																						ENST00000379361.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(727-729)tCc>tAc		patched domain containing 1							235.0	216.0	222.0					X																	23398084		2203	4300	6503	SO:0001583	missense	139411	0	0					g.chrX:23398084C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.728C>A	chrX.hg19:g.23398084C>A	ENSP00000368666:p.Ser243Tyr							p.S243Y	NM_173495.2	NP_775766.2	0	1	1		Q96NR3	PTHD1_HUMAN		2	1588	+			B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	1	1	hg19	c.728C>A	CCDS35215.2	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774582	0.49786	.	.	ENSG00000165186	ENST00000379361	D	0.86694	-2.16	4.86	3.0	0.34707	4.86	3.0	0.34707	.	0.348412	0.31370	N	0.007762	D	0.85457	0.5701	N	0.19112	0.55	0.32494	N	0.539809	P;P	0.51537	0.727;0.946	B;P	0.59115	0.408;0.852	D	0.86509	0.1808	10	0.46703	T	0.11	.	12.1616	0.54107	0.475:0.525:0.0:0.0	.	138;243	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Y	243	ENSP00000368666:S243Y	ENSP00000368666:S243Y	S	+	2	0	0	PTCHD1	23308005	23308005	0.842000	0.29525	0.999000	0.59377	0.997000	0.91878	1.156000	0.31712	0.502000	0.28037	0.600000	0.82982	TCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	1	0	1		2	2	2	0		0	0	333		333	331	1	2.060000	-20.000000	1	0.170000	NM_173495			258	253		967	947	1		1	0		0	0	333	0		1	0	0	1	0	0	0	258	967
ZFX	7543	broad.mit.edu	37	X	24190912	24190912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	18					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTTGATGCAACAGGTATA	0.383																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(52-54)gCa>gTa		zinc finger protein, X-linked							182.0	144.0	157.0					X																	24190912		2203	4300	6503	SO:0001583	missense	7543	0	0					g.chrX:24190912C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.53C>T	chrX.hg19:g.24190912C>T	ENSP00000368475:p.Ala18Val						ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V	p.A18V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	0	1	1		P17010	ZFX_HUMAN		5	480	+			B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	1	1	hg19	c.53C>T	CCDS14211.1	1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261242	0.39995	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.08807	3.2;3.2;3.2;3.05;3.21	5.23	4.37	0.52481	5.23	4.37	0.52481	.	0.178042	0.37955	N	0.001867	T	0.06781	0.0173	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.34399	0.0;0.452;0.023;0.049	B;B;B;B	0.33454	0.001;0.164;0.029;0.039	T	0.31833	-0.9929	10	0.62326	D	0.03	-30.729	11.4795	0.50318	0.0:0.9143:0.0:0.0857	.	18;18;18;22	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	18	ENSP00000368486:A18V;ENSP00000368475:A18V;ENSP00000304985:A18V;ENSP00000441382:A18V;ENSP00000343384:A18V	ENSP00000304985:A18V	A	+	2	0	0	ZFX	24100833	24100833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.357000	0.59436	1.090000	0.41315	0.600000	0.82982	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	1	0	1		2	2	2	0		0	0	77		77	75	1	2.060000	-20.000000	1	0.170000	NM_003410			47	46		218	215	1		1	1		0	0	77	0		1	9.936813e-01	0	14	0	25	0	47	218
PCYT1B	9468	broad.mit.edu	37	X	24625913	24625913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379144.2	-	3	413	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A77T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	95					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423																																						ENST00000379144.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(283-285)Gcc>Acc		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						95.0	88.0	90.0					X																	24625913		2203	4300	6503	SO:0001583	missense	9468	0	0					g.chrX:24625913C>T	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.283G>A	chrX.hg19:g.24625913C>T	ENSP00000368439:p.Ala95Thr						PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A77T	p.A95T	NM_004845.4	NP_004836.2	0	1	1		Q9Y5K3	PCY1B_HUMAN		3	413	-			A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	1	1	hg19	c.283G>A	CCDS14213.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763920	0.89932	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.19	5.19	0.71726	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D;P;P	0.53745	0.962;0.86;0.86	B;B;B	0.43701	0.333;0.346;0.428	D	0.95264	0.8371	10	0.48119	T	0.1	-34.0451	17.8268	0.88668	0.0:1.0:0.0:0.0	.	95;77;95	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	77;95;95	ENSP00000368440:A77T;ENSP00000368439:A95T;ENSP00000349211:A95T	ENSP00000349211:A95T	A	-	1	0	0	PCYT1B	24535834	24535834	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-20.000000	1	0.170000	NM_004845			26	25		63	62	1		1	0		0	0	17	0		1	2.145863e-01	0	0	0	3	0	26	63
POLA1	5422	broad.mit.edu	37	X	24732735	24732735	+	Silent	SNP	G	G	A	rs187670867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379059.3	+	5	408	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POLA1_ENST00000379068.3_Silent_p.P137P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACAAAACCGAACAACATTA	0.353													G|||	3	0.000794702	0.0015	0.0	3775	,	,		13832	0.0		0.0	False		,,,				2504	0.001					ENST00000379059.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				11						c.(391-393)ccG>ccA		polymerase (DNA directed), alpha 1, catalytic subunit	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	G		2,3832		0,1,1,1631,569	102.0	92.0	95.0		393	-3.2	0.9	X		95	0,6726		0,0,0,2428,1870	no	coding-synonymous	POLA1	NM_016937.3		0,1,1,4059,2439	AA,AG,A,GG,G		0.0,0.0522,0.0189		131/1463	24732735	2,10558	2202	4298	6500	SO:0001819	synonymous_variant	5422	0	0					g.chrX:24732735G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.393G>A	chrX.hg19:g.24732735G>A							POLA1_ENST00000379068.3_Silent_p.P137P	p.P131P	NM_016937.3	NP_058633.2	0	1	1		P09884	DPOLA_HUMAN		5	408	+			Q86UQ7	Silent	SNP	ENST00000379059.3	1	1	hg19	c.393G>A	CCDS14214.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.353	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	1	0	1		2	2	2	0		0	0	21		21	21	1	2.060000	-17.733370	1	0.170000	NM_016937			19	18		44	43	1		1	1		0	0	21	0		9.999965e-01	9.648523e-01	0	10	0	6	0	19	44
MAGEB6	158809	broad.mit.edu	37	X	26212149	26212149	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522																																						ENST00000379034.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(184-186)caG>caT		melanoma antigen family B, 6							112.0	98.0	103.0					X																	26212149		2202	4300	6502	SO:0001583	missense	158809	0	0					g.chrX:26212149G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.186G>T	chrX.hg19:g.26212149G>T	ENSP00000368320:p.Gln62His							p.Q62H	NM_173523.2	NP_775794.2	0	1	1		Q8N7X4	MAGB6_HUMAN		2	335	+			Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	1	1	hg19	c.186G>T	CCDS14217.1	1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503317	0.26949	.	.	ENSG00000176746	ENST00000379034	T	0.08458	3.09	1.59	0.603	0.17541	1.59	0.603	0.17541	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.08358	0.0208	L	0.58354	1.805	0.09310	N	1	B	0.28605	0.217	B	0.22753	0.041	T	0.27536	-1.0071	9	0.59425	D	0.04	.	5.1954	0.15233	0.0:0.3673:0.6327:0.0	.	62	Q8N7X4	MAGB6_HUMAN	H	62	ENSP00000368320:Q62H	ENSP00000368320:Q62H	Q	+	3	2	2	MAGEB6	26122070	26122070	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.243000	0.08915	0.121000	0.18284	0.429000	0.28392	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	1	0	1		2	2	2	0		0	0	86		86	85	1	2.060000	-4.352940	1	0.170000	NM_173523			80	78		267	258	1		1			0	0	86	0		1	0	0	0	0	0	0	80	267
MAGEB6	158809	broad.mit.edu	37	X	26212833	26212833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547																																						ENST00000379034.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				33						c.(868-870)tcG>tcA		melanoma antigen family B, 6							160.0	150.0	153.0					X																	26212833		2202	4300	6502	SO:0001819	synonymous_variant	158809	0	0					g.chrX:26212833G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.870G>A	chrX.hg19:g.26212833G>A								p.S290S	NM_173523.2	NP_775794.2	0	1	1		Q8N7X4	MAGB6_HUMAN		2	1019	+			Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	1	1	hg19	c.870G>A	CCDS14217.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	1	0	1		2	2	2	0		0	0	193		193	191	1	2.060000	-20.000000	1	0.170000	NM_173523			194	194		631	622	1		1			0	0	193	0		1	0	0	0	0	0	0	194	631
DCAF8L1	139425	broad.mit.edu	37	X	27998727	27998727	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	242								p.V242G(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						AGCCTGGATGACATTAATATC	0.488																																						ENST00000441525.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V242G(1)	endometrium(1)	56						c.(724-726)gTc>gCc		DDB1 and CUL4 associated factor 8-like 1							71.0	63.0	66.0					X																	27998727		2202	4300	6502	SO:0001583	missense	139425	0	0					g.chrX:27998727A>G		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.725T>C	chrX.hg19:g.27998727A>G	ENSP00000405222:p.Val242Ala							p.V242A	NM_001017930.1	NP_001017930.1	0	1	1		A6NGE4	DC8L1_HUMAN		1	839	-			B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	1	1	hg19	c.725T>C	CCDS35222.1	1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504791	0.44558	.	.	ENSG00000226372	ENST00000441525	D	0.88741	-2.42	0.842	0.842	0.18927	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070917	0.56097	D	0.000032	D	0.91061	0.7187	M	0.91196	3.185	0.40817	D	0.983474	P	0.50943	0.94	P	0.49853	0.624	D	0.89265	0.3600	10	0.87932	D	0	-7.6917	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	242	A6NGE4	DC8L1_HUMAN	A	242	ENSP00000405222:V242A	ENSP00000405222:V242A	V	-	2	0	0	DCAF8L1	27908648	27908648	1.000000	0.71417	0.137000	0.22149	0.019000	0.09904	3.817000	0.55668	0.571000	0.29365	0.235000	0.17854	GTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	1	0	1		2	2	2	0		0	0	64		64	63	1	2.060000	-20.000000	1	0.170000	XM_066690			49	47		208	205	1		1			0	0	64	0		1	0	0	0	0	0	0	49	208
IL1RAPL1	11141	broad.mit.edu	37	X	29935582	29935582	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	260	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)			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						TCTCTGCAGGTGACTCTGCTA	0.358																																						ENST00000378993.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				62						c.(778-780)ggT>ggC		interleukin 1 receptor accessory protein-like 1							48.0	43.0	44.0					X																	29935582		2202	4300	6502	SO:0001630	splice_region_variant	11141	0	0					g.chrX:29935582T>C	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.779-1T>C	chrX.hg19:g.29935582T>C							IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	p.G260G	NM_014271.3	NP_055086.1	0	1	1		Q9NZN1	IRPL1_HUMAN		7	1453	+			A0AVG4|Q9UJ53	Splice_Site	SNP	ENST00000378993.1	1	0	hg19	c.780T>C	CCDS14218.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	0	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-19.934640	1	0.170000	NM_014271	Silent		32	31		126	125	1		1			0	0	39	0		1	0	0	0	0	0	0	32	126
MAGEB4	4115	broad.mit.edu	37	X	30261225	30261225	+	Missense_Mutation	SNP	C	C	T	rs374728070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517																																						ENST00000378982.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				27						c.(973-975)Cgt>Tgt		melanoma antigen family B, 4		C	CYS/ARG	0,3833		0,0,1631,571	49.0	43.0	45.0		973	0.3	0.0	X		45	1,6727		0,1,2427,1872	no	missense	MAGEB4	NM_002367.3	180	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	325/347	30261225	1,10560	2202	4300	6502	SO:0001583	missense	4115	0	0					g.chrX:30261225C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.973C>T	chrX.hg19:g.30261225C>T	ENSP00000368266:p.Arg325Cys						MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	p.R325C	NM_002367.3	NP_002358.1	0	1	1		O15481	MAGB4_HUMAN		1	1169	+			B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	1	1	hg19	c.973C>T	CCDS14221.1	1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953177	0.18431	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.14	0.282	0.15692	3.14	0.282	0.15692	.	.	.	.	.	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.53585	-0.8418	9	0.54805	T	0.06	.	5.9274	0.19120	0.0:0.2501:0.5807:0.1692	.	325	O15481	MAGB4_HUMAN	C	325	ENSP00000368266:R325C	ENSP00000368266:R325C	R	+	1	0	0	MAGEB4	30171146	30171146	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.192000	0.09587	-0.060000	0.13132	-0.355000	0.07637	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	1	0	1		2	2	2	0		0	0	64		64	64	1	2.060000	-20.000000	1	0.170000	NM_002367			68	67		224	222	1		1			0	0	64	0		1	0	0	0	0	0	0	68	224
NR0B1	190	broad.mit.edu	37	X	30327309	30327309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	58	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662																																						ENST00000378970.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998062	0.990000	1.000000																										0				24						c.(172-174)Cgg>Tgg		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						18.0	16.0	17.0					X																	30327309		2188	4279	6467	SO:0001583	missense	190	0	0					g.chrX:30327309G>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.172C>T	chrX.hg19:g.30327309G>A	ENSP00000368253:p.Arg58Trp						NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W|NR0B1_ENST00000378963.1_5'Flank	p.R58W	NM_000475.4	NP_000466.2	0	1	1		P51843	NR0B1_HUMAN		1	406	-			Q96F69	Missense_Mutation	SNP	ENST00000378970.4	1	1	hg19	c.172C>T	CCDS14223.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413147	0.25465	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97994	-3.82;-4.65	4.42	2.59	0.31030	4.42	2.59	0.31030	.	0.761802	0.11469	N	0.560960	D	0.96485	0.8853	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	P	0.47470	0.548	D	0.90554	0.4511	10	0.87932	D	0	-12.9497	10.0129	0.41997	0.0:0.0:0.634:0.366	.	58	P51843	NR0B1_HUMAN	W	58	ENSP00000368253:R58W;ENSP00000396403:R58W	ENSP00000368253:R58W	R	-	1	2	2	NR0B1	30237230	30237230	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.626000	0.24492	0.401000	0.25424	-0.371000	0.07208	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	1	0	1		2	2	2	0		0	0	28		28	27	1	2.060000	-20.000000	1	0.170000	NM_000475			21	20		137	135	1		1	0		0	0	28	0		9.999981e-01	9.485649e-02	0	0	0	4	0	21	137
CXorf21	80231	broad.mit.edu	37	X	30577645	30577645	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388																																						ENST00000378962.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(826-828)ttG>ttA		chromosome X open reading frame 21							77.0	68.0	71.0					X																	30577645		2202	4300	6502	SO:0001819	synonymous_variant	80231	0	0					g.chrX:30577645C>T	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.828G>A	chrX.hg19:g.30577645C>T								p.L276L	NM_025159.2	NP_079435.1	0	1	1		Q9HAI6	CX021_HUMAN		3	1150	-				Silent	SNP	ENST00000378962.3	1	1	hg19	c.828G>A	CCDS14224.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_025159			69	69		290	288	1		1	0		0	0	76	0		1	7.808640e-01	0	0	0	14	0	69	290
GK	2710	broad.mit.edu	37	X	30686168	30686168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378941.3	+	3	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Silent_p.V64V			P32189	GLPK_HUMAN	glycerol kinase	64					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313																																						ENST00000378941.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(190-192)gtC>gtT		glycerol kinase							68.0	59.0	62.0					X																	30686168		2202	4293	6495	SO:0001819	synonymous_variant	2710	0	0					g.chrX:30686168C>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.192C>T	chrX.hg19:g.30686168C>T							GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Silent_p.V64V	p.V64V			0	1	1		P32189	GLPK_HUMAN		3	192	+			A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378941.3	1	1	hg19	c.192C>T		1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.313	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	1	0	1		2	2	2	0		0	0	67		67	71	1	2.060000	-20.000000	1	0.170000	NM_000167			41	40		159	157	1		1	1		0	0	67	0		1	9.043168e-01	0	5	0	13	0	41	159
TAB3	257397	broad.mit.edu	37	X	30872954	30872954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	276	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999866	0.990000	1.000000																										0				27						c.(826-828)caG>caT		TGF-beta activated kinase 1/MAP3K7 binding protein 3							111.0	86.0	95.0					X																	30872954		2202	4300	6502	SO:0001583	missense	257397	0	0					g.chrX:30872954C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.828G>T	chrX.hg19:g.30872954C>A	ENSP00000368215:p.Gln276His						TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378928.1_5'Flank	p.Q276H	NM_152787.3	NP_690000.2	0	1	1		Q8N5C8	TAB3_HUMAN		3	1005	-			A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	1	1	hg19	c.828G>T	CCDS14226.1	1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615977	0.28801	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78816	-1.03;-1.03;-1.03;-1.21	4.92	-5.93	0.02254	4.92	-5.93	0.02254	.	0.000000	0.64402	D	0.000002	T	0.79610	0.4475	L	0.32530	0.975	0.36471	D	0.867261	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.80498	-0.1356	10	0.72032	D	0.01	-3.0975	18.21	0.89867	0.0:0.6435:0.0:0.3565	.	276;276	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	276	ENSP00000368215:Q276H;ENSP00000368212:Q276H;ENSP00000288422:Q276H;ENSP00000368214:Q276H	ENSP00000288422:Q276H	Q	-	3	2	2	TAB3	30782875	30782875	0.004000	0.15560	0.809000	0.32408	0.390000	0.30446	-1.953000	0.01526	-1.819000	0.01216	-0.415000	0.06103	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	1	0	1		2	2	2	0		0	0	50		50	49	1	2.060000	-20.000000	1	0.170000	NM_152787			26	26		142	136	1		1	1		0	0	50	0		9.999999e-01	9.567033e-01	0	8	0	23	0	26	142
FTHL17	53940	broad.mit.edu	37	X	31089968	31089968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	35	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.Y35N(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607																																						ENST00000359202.3	1.000000	0.970000	1	9.900000e-01	0.990000	0.998126	0.990000	1.000000																										2	Substitution - Missense(2)	p.Y35N(2)	liver(2)	23						c.(103-105)Tac>Cac		ferritin, heavy polypeptide-like 17							84.0	74.0	77.0					X																	31089968		2202	4300	6502	SO:0001583	missense	53940	0	0					g.chrX:31089968A>G	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.103T>C	chrX.hg19:g.31089968A>G	ENSP00000368207:p.Tyr35His							p.Y35H	NM_031894.2	NP_114100.1	0	1	1		Q9BXU8	FHL17_HUMAN		1	202	-			Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	1	1	hg19	c.103T>C	CCDS14227.1	1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648995	0.47362	.	.	ENSG00000132446	ENST00000359202	D	0.86097	-2.07	3.55	-0.386	0.12466	3.55	-0.386	0.12466	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.142334	0.48767	D	0.000174	D	0.92851	0.7726	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84279	0.0493	10	0.87932	D	0	.	5.025	0.14379	0.4797:0.3485:0.0:0.1717	.	35	Q9BXU8	FHL17_HUMAN	H	35	ENSP00000368207:Y35H	ENSP00000368207:Y35H	Y	-	1	0	0	FTHL17	30999889	30999889	0.519000	0.26242	0.000000	0.03702	0.074000	0.17049	4.060000	0.57477	-0.165000	0.10908	0.437000	0.28790	TAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	1	0	1		2	2	2	0		0	0	128		128	128	1	2.060000	-20.000000	1	0.170000	NM_031894			52	51		425	419	1		1			0	0	128	0		1	0	0	0	0	0	0	52	425
DMD	1756	broad.mit.edu	37	X	31525440	31525440	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T	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	2783					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)			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)				CCACTTGAAGTTCATGTTATC	0.398																																						ENST00000357033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(8347-8349)aAc>aCc		dystrophin							190.0	155.0	167.0					X																	31525440		2202	4300	6502	SO:0001583	missense	1756	0	0					g.chrX:31525440T>G	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.8348A>C	chrX.hg19:g.31525440T>G	ENSP00000354923:p.Asn2783Thr						DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T	p.N2783T	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	0	1	1		P11532	DMD_HUMAN		56	8554	-		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)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	1	1	hg19	c.8348A>C	CCDS14233.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.042040|2.042040	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.75|5.75	5.75|5.75	0.90469|0.90469	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.39985	.|U	.|0.001213	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.78049|0.78049	2.395|2.395	0.42535|0.42535	D|D	0.993054|0.993054	.|B;P;D;B;B;P;P;P;B;B;P	.|0.65815	.|0.216;0.476;0.995;0.145;0.145;0.659;0.553;0.553;0.077;0.063;0.729	.|B;B;D;B;B;P;P;P;B;B;B	.|0.64506	.|0.31;0.1;0.926;0.111;0.111;0.607;0.466;0.466;0.063;0.037;0.413	T|T	0.74884|0.74884	-0.3512|-0.3512	5|10	.|0.52906	.|T	.|0.07	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2775;2783;2779;1442;1439;323;323;323;323;323;2660	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|T	511|2775;1442;1439;479;2779;2783;323;323;2783;2660;323;323;323	.|ENSP00000350765:N479T;ENSP00000367948:N2779T;ENSP00000354923:N2783T;ENSP00000352894:N323T;ENSP00000340057:N323T;ENSP00000367979:N323T;ENSP00000444119:N323T;ENSP00000417123:N323T	.|ENSP00000340057:N323T	E|N	-|-	3|2	2|0	2|0	DMD|DMD	31435361|31435361	31435361|31435361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.839000|3.839000	0.55835|0.55835	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	GAA|AAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_004006			77	74		205	203	1		1	0		0	0	76	0		1	1.858009e-01	0	0	0	3	0	77	205
DMD	1756	broad.mit.edu	37	X	32827617	32827617	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000378677.2_Silent_p.D210D|DMD_ENST00000288447.4_Silent_p.D206D	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	214	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)			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)				AACCTTCAGGATCGAGTAGTT	0.393																																						ENST00000357033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(640-642)gaT>gaC		dystrophin							170.0	128.0	142.0					X																	32827617		2202	4300	6502	SO:0001819	synonymous_variant	1756	0	0					g.chrX:32827617A>G	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.642T>C	chrX.hg19:g.32827617A>G							DMD_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	p.D214D	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	0	1	1		P11532	DMD_HUMAN		7	848	-		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)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	1	1	hg19	c.642T>C	CCDS14233.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	1		2	2	2	0		0	0	93		93	93	1	2.060000	-20.000000	1	0.170000	NM_004006			68	65		233	228	0		1	0		0	0	93	0		1	2.243637e-01	0	0	0	4	0	68	233
DMD	1756	broad.mit.edu	37	X	32834629	32834629	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000378677.2_Missense_Mutation_p.S158R|DMD_ENST00000288447.4_Missense_Mutation_p.S154R	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	162	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)			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)				CATCAGACCAGCTGGTGGTGA	0.408																																						ENST00000357033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(484-486)agC>agA		dystrophin							147.0	126.0	133.0					X																	32834629		2202	4300	6502	SO:0001583	missense	1756	0	0					g.chrX:32834629G>T	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.486C>A	chrX.hg19:g.32834629G>T	ENSP00000354923:p.Ser162Arg						DMD_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	p.S162R	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	0	1	1		P11532	DMD_HUMAN		6	692	-		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)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	1	1	hg19	c.486C>A	CCDS14233.1	1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740766	0.69304	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95342	-3.68;-3.68;-3.68	5.51	3.75	0.43078	5.51	3.75	0.43078	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.97873	0.9301	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.998;1.0	P;D;D;D;D	0.91635	0.89;0.959;0.999;0.977;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	9.1509	0.36962	0.2268:0.0:0.7732:0.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	154;158;162;162;39;154	ENSP00000367948:S158R;ENSP00000354923:S162R;ENSP00000288447:S154R	ENSP00000288447:S154R	S	-	3	2	2	DMD	32744550	32744550	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.819000	0.69243	0.515000	0.28320	-0.912000	0.02778	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1		2	2	2	0		0	0	118		118	117	1	2.060000	-20.000000	1	0.170000	NM_004006			124	121		299	296	1		1	0		0	0	118	0		1	8.658508e-02	0	0	0	2	0	124	299
DMD	1756	broad.mit.edu	37	X	32841471	32841471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000378677.2_Missense_Mutation_p.V96I|DMD_ENST00000288447.4_Missense_Mutation_p.V92I	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	100	Actin-binding.|CH 1. {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)			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)				TTTCCATCTACGATGTCAGTA	0.343																																						ENST00000357033.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				77						c.(298-300)Gta>Ata		dystrophin							156.0	145.0	149.0					X																	32841471		2202	4300	6502	SO:0001583	missense	1756	2	121406	40				g.chrX:32841471C>T	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.298G>A	chrX.hg19:g.32841471C>T	ENSP00000354923:p.Val100Ile						DMD_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	p.V100I	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	0	1	1		P11532	DMD_HUMAN		5	504	-		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)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	1	1	hg19	c.298G>A	CCDS14233.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931665	0.92389	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.68	5.68	0.88126	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.33457	U	0.004883	D	0.97723	0.9253	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;0.997	P;P;D;P	0.85130	0.732;0.612;0.997;0.732	D	0.98391	1.0563	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	92;92;100;96	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	92;96;100;100;92;63	ENSP00000367948:V96I;ENSP00000354923:V100I;ENSP00000288447:V92I;ENSP00000395904:V63I	ENSP00000288447:V92I	V	-	1	0	0	DMD	32751392	32751392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.403000	0.81681	0.523000	0.50628	GTA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1		2	2	2	0		0	0	108		108	108	1	2.060000	-20.000000	1	0.170000	NM_004006			86	84		299	295	1		1			0	0	108	0		1	0	0	0	0	0	0	86	299
FAM47B	170062	broad.mit.edu	37	X	34961295	34961295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542																																						ENST00000329357.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(346-348)gCg>gTg		family with sequence similarity 47, member B							91.0	83.0	86.0					X																	34961295		2202	4300	6502	SO:0001583	missense	170062	0	0					g.chrX:34961295C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.347C>T	chrX.hg19:g.34961295C>T	ENSP00000328307:p.Ala116Val							p.A116V	NM_152631.2	NP_689844.2	0	1	1		Q8NA70	FA47B_HUMAN		1	383	+			Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	1	1	hg19	c.347C>T	CCDS14236.1	1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822692	0.16678	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	0.843	0.18935	0.843	0.843	0.18935	.	.	.	.	.	T	0.14917	0.0360	L	0.38953	1.18	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.21177	-1.0253	9	0.45353	T	0.12	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	116	Q8NA70	FA47B_HUMAN	V	116	ENSP00000328307:A116V	ENSP00000328307:A116V	A	+	2	0	0	FAM47B	34871216	34871216	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.074000	0.14662	0.695000	0.31675	0.292000	0.19580	GCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	1	0	1		2	2	2	0		0	0	112		112	112	1	2.060000	-20.000000	1	0.170000	NM_152631			107	102		373	364	1		1			0	0	112	0		1	0	0	0	0	0	0	107	373
FAM47B	170062	broad.mit.edu	37	X	34961432	34961432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587																																						ENST00000329357.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(484-486)Gct>Act		family with sequence similarity 47, member B							47.0	42.0	44.0					X																	34961432		2202	4300	6502	SO:0001583	missense	170062	0	0					g.chrX:34961432G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.484G>A	chrX.hg19:g.34961432G>A	ENSP00000328307:p.Ala162Thr							p.A162T	NM_152631.2	NP_689844.2	0	1	1		Q8NA70	FA47B_HUMAN		1	520	+			Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	1	1	hg19	c.484G>A	CCDS14236.1	1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570869	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	-1.69	0.08186	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08403	0.0209	N	0.17922	0.545	0.09310	N	1	B	0.18741	0.03	B	0.16722	0.016	T	0.38499	-0.9658	9	0.02654	T	1	.	2.5263	0.04692	0.3189:0.0:0.4299:0.2512	.	162	Q8NA70	FA47B_HUMAN	T	162	ENSP00000328307:A162T	ENSP00000328307:A162T	A	+	1	0	0	FAM47B	34871353	34871353	0.008000	0.16893	0.007000	0.13788	0.001000	0.01503	-0.704000	0.05058	-1.178000	0.02741	-1.891000	0.00535	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.060000	-20.000000	1	0.170000	NM_152631			54	53		190	185	1		1			0	0	55	0		1	0	0	0	0	0	0	54	190
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532																																						ENST00000399989.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				31						c.(178-180)Agt>Cgt		melanoma antigen family B, 16							46.0	44.0	45.0					X																	35820491		1955	4120	6075	SO:0001583	missense	139604	0	0					g.chrX:35820491A>C		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.178A>C	chrX.hg19:g.35820491A>C	ENSP00000382871:p.Ser60Arg						MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R	p.S60R	NM_001099921.1	NP_001093391.1	0	1	1		A2A368	MAGBG_HUMAN		2	457	+			A8MU30	Missense_Mutation	SNP	ENST00000399989.1	1	1	hg19	c.178A>C	CCDS43927.1	1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949479	0.18356	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	3.13	1.92	0.25849	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.13372	0.0324	L	0.53561	1.675	0.09310	N	1	B	0.32324	0.364	B	0.37943	0.261	T	0.30387	-0.9980	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	R	60;92;60;60;60	ENSP00000382870:S60R;ENSP00000382874:S92R;ENSP00000382869:S60R;ENSP00000382871:S60R;ENSP00000382867:S60R	ENSP00000382867:S60R	S	+	1	0	0	MAGEB16	35730412	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000				18	17		66	65	1		1			0	0	31	0		9.999899e-01	0	0	0	0	0	0	18	66
MAGEB16	139604	broad.mit.edu	37	X	35820969	35820969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507																																						ENST00000399989.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(655-657)cGt>cAt		melanoma antigen family B, 16							87.0	83.0	84.0					X																	35820969		2188	4294	6482	SO:0001583	missense	139604	1	121354	26				g.chrX:35820969G>A		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.656G>A	chrX.hg19:g.35820969G>A	ENSP00000382871:p.Arg219His						MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H	p.R219H	NM_001099921.1	NP_001093391.1	0	1	1		A2A368	MAGBG_HUMAN		2	935	+			A8MU30	Missense_Mutation	SNP	ENST00000399989.1	1	1	hg19	c.656G>A	CCDS43927.1	1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271307	0.10349	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	1.28	0.21552	3.13	1.28	0.21552	.	1.580770	0.03543	N	0.224295	T	0.04452	0.0122	L	0.41236	1.265	0.23036	N	0.998394	B	0.29531	0.247	B	0.25291	0.059	T	0.42732	-0.9434	10	0.12766	T	0.61	.	3.3475	0.07141	0.1447:0.0:0.6028:0.2526	.	219	A2A368	MAGBG_HUMAN	H	219;251;219;219;219	ENSP00000382870:R219H;ENSP00000382874:R251H;ENSP00000382869:R219H;ENSP00000382871:R219H;ENSP00000382867:R219H	ENSP00000382867:R219H	R	+	2	0	0	MAGEB16	35730890	35730890	0.000000	0.05858	0.836000	0.33094	0.001000	0.01503	-0.306000	0.08178	0.225000	0.20959	-0.367000	0.07326	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1	1	0	1		2	2	2	0		0	0	89		89	85	1	2.060000	-20.000000	1	0.170000				68	68		194	188	1		1			0	0	89	0		1	0	0	0	0	0	0	68	194
CXorf22	170063	broad.mit.edu	37	X	35969425	35969425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	278										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						ATAGCCCAGAGCCCATAAATT	0.413																																						ENST00000297866.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(832-834)gaG>gaT		chromosome X open reading frame 22							56.0	50.0	52.0					X																	35969425		2202	4300	6502	SO:0001583	missense	170063	0	0					g.chrX:35969425G>T	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.834G>T	chrX.hg19:g.35969425G>T	ENSP00000297866:p.Glu278Asp							p.E278D	NM_152632.3	NP_689845.2	0	1	1		Q6ZTR5	CX022_HUMAN		5	900	+			Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	1	1	hg19	c.834G>T	CCDS14237.2	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600097	0.28534	.	.	ENSG00000165164	ENST00000297866	T	0.15603	2.41	5.76	3.29	0.37713	5.76	3.29	0.37713	.	0.485709	0.24033	N	0.042164	T	0.17746	0.0426	M	0.62723	1.935	0.23594	N	0.997333	P	0.41080	0.737	P	0.45167	0.472	T	0.08576	-1.0715	10	0.18710	T	0.47	-30.4234	3.1986	0.06641	0.547:0.0:0.2782:0.1748	.	278	Q6ZTR5	CX022_HUMAN	D	278	ENSP00000297866:E278D	ENSP00000297866:E278D	E	+	3	2	2	CXorf22	35879346	35879346	0.979000	0.34478	0.688000	0.30117	0.437000	0.31866	2.190000	0.42630	0.807000	0.34208	-0.503000	0.04515	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	1		2	2	2	0		0	0	42		42	42	1	2.060000	-20.000000	1	0.170000	NM_152632			41	40		129	128	1		1	0		0	0	42	0		1	0	0	1	0	0	0	41	129
CXorf22	170063	broad.mit.edu	37	X	35989849	35989849	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	ENST00000297866.5	+	12	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										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						TTAACCACCAGGGGTATAGCA	0.423																																						ENST00000297866.5	0.870000	0.330000	7.300000e-01	4.400000e-01	0.570000	0.589682	0.570000	0.560000																										0				44						c.(2116-2118)aGg>aAg		chromosome X open reading frame 22							56.0	50.0	52.0					X																	35989849		2202	4300	6502	SO:0001583	missense	170063	0	0					g.chrX:35989849G>A	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.2117G>A	chrX.hg19:g.35989849G>A	ENSP00000297866:p.Arg706Lys							p.R706K	NM_152632.3	NP_689845.2	0	1	1		Q6ZTR5	CX022_HUMAN		12	2183	+			Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	1	1	hg19	c.2117G>A	CCDS14237.2	0	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268478	0.10349	.	.	ENSG00000165164	ENST00000297866	T	0.13196	2.61	5.84	-2.93	0.05598	5.84	-2.93	0.05598	.	0.684196	0.15211	N	0.274441	T	0.08088	0.0202	L	0.45581	1.43	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.46261	-0.9204	10	0.02654	T	1	-2.1449	7.5875	0.28002	0.5459:0.1236:0.3305:0.0	.	706	Q6ZTR5	CX022_HUMAN	K	706	ENSP00000297866:R706K	ENSP00000297866:R706K	R	+	2	0	0	CXorf22	35899770	35899770	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	-0.666000	0.05310	-0.191000	0.12829	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	1		2	2	2	0		0	0	59		59	58	1	2.060000	-3.088338	1	0.170000	NM_152632			15	13		297	292	0		1	0		0	0	59	0		9.998559e-01	0	0	0	0	1	0	15	297
CXorf22	170063	broad.mit.edu	37	X	35993429	35993429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	807										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						CCTACATCCAGTACTTATATT	0.333																																						ENST00000297866.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				44						c.(2419-2421)aGt>aAt		chromosome X open reading frame 22							92.0	84.0	87.0					X																	35993429		2201	4294	6495	SO:0001583	missense	170063	0	0					g.chrX:35993429G>A	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.2420G>A	chrX.hg19:g.35993429G>A	ENSP00000297866:p.Ser807Asn							p.S807N	NM_152632.3	NP_689845.2	0	1	1		Q6ZTR5	CX022_HUMAN		14	2486	+			Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	1	1	hg19	c.2420G>A	CCDS14237.2	1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717373	0.03182	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.3	0.859	0.19036	5.3	0.859	0.19036	.	0.769651	0.13053	N	0.417491	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.32161	-0.9917	10	0.27785	T	0.31	-8.6299	4.7877	0.13232	0.3926:0.1574:0.45:0.0	.	807	Q6ZTR5	CX022_HUMAN	N	807	ENSP00000297866:S807N	ENSP00000297866:S807N	S	+	2	0	0	CXorf22	35903350	35903350	1.000000	0.71417	0.043000	0.18650	0.022000	0.10575	1.390000	0.34464	0.088000	0.17205	0.544000	0.68410	AGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	1		2	2	2	0		0	0	96		96	96	1	2.060000	-20.000000	1	0.170000	NM_152632			54	54		218	211	1		1			0	0	96	0		1	0	0	0	0	0	0	54	218
FAM47C	442444	broad.mit.edu	37	X	37028071	37028071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	530										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						TCCCAAGATTCTGGTGTCCAG	0.617																																						ENST00000358047.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				120						c.(1588-1590)Ctg>Ttg		family with sequence similarity 47, member C							84.0	83.0	84.0					X																	37028071		2202	4300	6502	SO:0001819	synonymous_variant	442444	0	0					g.chrX:37028071C>T	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.1588C>T	chrX.hg19:g.37028071C>T								p.L530L	NM_001013736.2	NP_001013758.1	0	1	1		Q5HY64	FA47C_HUMAN		1	1640	+			Q6ZU46	Silent	SNP	ENST00000358047.3	1	1	hg19	c.1588C>T	CCDS35227.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	1	0	1		2	2	2	0		0	0	208		208	203	1	2.060000	-20.000000	1	0.170000	NM_001013736			175	169		496	486	1		1			0	0	208	0		1	0	0	0	0	0	0	175	496
SRPX	8406	broad.mit.edu	37	X	38020292	38020292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000432886.2_Silent_p.G164G|SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000479015.1_5'Flank	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	223	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438																																						ENST00000378533.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994287	0.990000	1.000000																										0				25						c.(667-669)ggC>ggT		sushi-repeat containing protein, X-linked							69.0	63.0	65.0					X																	38020292		2202	4299	6501	SO:0001819	synonymous_variant	8406	2	121406	27				g.chrX:38020292G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.669C>T	chrX.hg19:g.38020292G>A							SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000432886.2_Silent_p.G164G|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000479015.1_5'Flank|TM4SF2_ENST00000465127.1_Intron	p.G223G	NM_006307.4	NP_006298.1	0	1	1		P78539	SRPX_HUMAN		6	775	-			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	1	1	hg19	c.669C>T	CCDS14245.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	1	0	1		2	2	2	0		0	0	84		84	84	1	2.060000	-20.000000	1	0.170000	NM_006307			36	36		300	294	1		1	1		0	0	84	0		1	9.987398e-01	0	2	0	85	0	36	300
MID1IP1	58526	broad.mit.edu	37	X	38664233	38664233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	12					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627																																						ENST00000336949.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(34-36)Cac>Tac		MID1 interacting protein 1							121.0	82.0	95.0					X																	38664233		2202	4300	6502	SO:0001583	missense	58526	0	0					g.chrX:38664233C>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.34C>T	chrX.hg19:g.38664233C>T	ENSP00000338706:p.His12Tyr						MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y|MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1-AS1_ENST00000436893.1_RNA	p.H12Y	NM_021242.4	NP_067065.1	0	1	1		Q9NPA3	M1IP1_HUMAN		2	979	+			D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	1	1	hg19	c.34C>T	CCDS14249.1	1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138881	0.37728	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	4.57	4.57	0.56435	.	0.194465	0.42172	D	0.000750	T	0.50837	0.1639	L	0.29908	0.895	0.45390	D	0.998374	B	0.22080	0.064	B	0.18263	0.021	T	0.49173	-0.8967	9	0.40728	T	0.16	-8.7866	15.3016	0.73955	0.0:1.0:0.0:0.0	.	12	Q9NPA3	M1IP1_HUMAN	Y	12	.	ENSP00000338706:H12Y	H	+	1	0	0	MID1IP1	38549177	38549177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.116000	0.64780	0.529000	0.55759	CAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-20.000000	1	0.170000				43	42		196	195	1		1	1		0	0	48	0		1	9.999999e-01	0	55	0	68	0	43	196
BCOR	54880	broad.mit.edu	37	X	39931785	39931785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000378444.4	-	4	3042	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T|BCOR_ENST00000342274.4_Silent_p.T938T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	938					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y939fs*7(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGTATAGGTGGGGGTCA	0.507			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000378444.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.998196	0.990000	1.000000				Rec	yes			Rec	yes		X	Xp11.4	Xp11.4	54880	F, N, S, T	BCL6 corepressor	yes	yes	oculo-facio-cardio-dental genetic			RARA		retinoblastoma, AML, APL(translocation)		1	Insertion - Frameshift(1)	p.Y939fs*7(1)	haematopoietic_and_lymphoid_tissue(1)	126						c.(2812-2814)acC>acA		BCL6 corepressor							72.0	57.0	62.0					X																	39931785		2202	4300	6502	SO:0001819	synonymous_variant	54880	0	0					g.chrX:39931785G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2814C>A	chrX.hg19:g.39931785G>T							BCOR_ENST00000342274.4_Silent_p.T938T|BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	p.T938T	NM_001123385.1	NP_001116857.1	0	1	1		Q6W2J9	BCOR_HUMAN		4	3042	-			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	1	1	hg19	c.2814C>A	CCDS48093.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_017745			29	28		208	205	1		1	1		0	0	46	0		1	9.997904e-01	0	35	0	62	0	29	208
BCOR	54880	broad.mit.edu	37	X	39937186	39937186	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39937186G>A	ENST00000378444.4	-	0	225				BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame|BCOR_ENST00000342274.4_De_novo_Start_OutOfFrame	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAGCATGTCGTCTTCTGGGA	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000378444.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		X	Xp11.4	Xp11.4	54880	F, N, S, T	BCL6 corepressor	yes	yes	oculo-facio-cardio-dental genetic			RARA		retinoblastoma, AML, APL(translocation)		0				126								BCL6 corepressor							104.0	82.0	89.0					X																	39937186		2202	4300	6502			54880	0	0					g.chrX:39937186G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.-4C>T	chrX.hg19:g.39937186G>A							BCOR_ENST00000342274.4_De_novo_Start_OutOfFrame|BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame		NM_001123385.1	NP_001116857.1	0	1	1		Q6W2J9	BCOR_HUMAN		0	225	-			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Translation_Start_Site	SNP	ENST00000378444.4	0	1	hg19		CCDS48093.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	0	1		2	2	2	0		0	0	91		91	88	1	2.060000	-20.000000	1	0.170000	NM_017745			71	70		229	224	0		1	1		0	0	91	0		1	9.991287e-01	0	19	0	18	0	71	229
MED14	9282	broad.mit.edu	37	X	40522271	40522271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1197					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTGCCAGGCCGGGCACAAG	0.498																																						ENST00000324817.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				39						c.(3589-3591)gGc>gAc		mediator complex subunit 14							102.0	81.0	88.0					X																	40522271		2203	4300	6503	SO:0001583	missense	9282	0	0					g.chrX:40522271C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3590G>A	chrX.hg19:g.40522271C>T	ENSP00000323720:p.Gly1197Asp							p.G1197D	NM_004229.3	NP_004220.2	0	1	1		O60244	MED14_HUMAN		26	3708	-			Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	1	1	hg19	c.3590G>A	CCDS14254.1	1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009936	0.54361	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.54071	0.59;0.59	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.048785	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43623	0.425;0.425	T	0.52403	-0.8580	10	0.66056	D	0.02	.	14.2586	0.66070	0.0:0.8553:0.1447:0.0	.	1197;1197	A8KAK5;O60244	.;MED14_HUMAN	D	1197;96	ENSP00000323720:G1197D;ENSP00000411357:G96D	ENSP00000323720:G1197D	G	-	2	0	0	MED14	40407215	40407215	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.696000	0.68287	2.353000	0.79882	0.529000	0.55759	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	1	0	1		2	2	2	0		0	0	47		47	47	1	2.060000	-20.000000	1	0.170000	NM_004229			31	29		113	110	1		1	1		0	0	47	0		1	1	0	59	0	52	0	31	113
MED14	9282	broad.mit.edu	37	X	40586068	40586068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	93					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTGGCGTGTCCGGCT	0.323																																						ENST00000324817.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				39						c.(277-279)cGc>cAc		mediator complex subunit 14							50.0	46.0	48.0					X																	40586068		2203	4300	6503	SO:0001583	missense	9282	0	0					g.chrX:40586068C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.278G>A	chrX.hg19:g.40586068C>T	ENSP00000323720:p.Arg93His							p.R93H	NM_004229.3	NP_004220.2	0	1	1		O60244	MED14_HUMAN		3	396	-			Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	1	1	hg19	c.278G>A	CCDS14254.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.98	4.12	0.48240	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77205	-0.2673	9	0.54805	T	0.06	.	12.429	0.55563	0.0:0.9145:0.0:0.0855	.	93	O60244	MED14_HUMAN	H	93	.	ENSP00000323720:R93H	R	-	2	0	0	MED14	40471012	40471012	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.314000	0.78988	0.993000	0.38866	-0.268000	0.10319	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-3.400614	1	0.170000	NM_004229			36	36		173	170	1		1	1		0	0	40	0		1	9.973565e-01	0	27	0	19	0	36	173
USP9X	8239	broad.mit.edu	37	X	41000309	41000309	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	287					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)			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						AGTTTTTAGAAAACTTAACTG	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999984	0.990000	1.000000																										0				87						c.(859-861)gaA>gaG		ubiquitin specific peptidase 9, X-linked							22.0	22.0	22.0					X																	41000309		2116	4228	6344	SO:0001819	synonymous_variant	8239	0	0					g.chrX:41000309A>G	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.861A>G	chrX.hg19:g.41000309A>G							USP9X_ENST00000378308.2_Silent_p.E287E	p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	0	1	1		Q93008	USP9X_HUMAN		8	1494	+			O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	1	1	hg19	c.861A>G	CCDS43930.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_004652			22	22		84	84	1		1	1		0	0	31	0		9.999995e-01	9.999882e-01	0	23	0	56	0	22	84
USP9X	8239	broad.mit.edu	37	X	41031200	41031200	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.8	+	21	3770	c.3137T>G	c.(3136-3138)cTt>cGt	p.L1046R	USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1046					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)			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						CTTATGAAACTTATGCCGCCA	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8	0.510000	0.180000	4.200000e-01	2.400000e-01	0.320000	0.336802	0.320000	0.320000																										0				87						c.(3136-3138)cTt>cGt		ubiquitin specific peptidase 9, X-linked							117.0	112.0	114.0					X																	41031200		2203	4300	6503	SO:0001583	missense	8239	0	0					g.chrX:41031200T>G	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.3137T>G	chrX.hg19:g.41031200T>G	ENSP00000316357:p.Leu1046Arg						USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	0	1	1		Q93008	USP9X_HUMAN		21	3770	+			O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	0	1	hg19	c.3137T>G	CCDS43930.1	0	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130005	0.77549	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04706	3.57;3.57	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70595	2.14	0.80722	D	1	D;P	0.56287	0.975;0.911	P;P	0.55824	0.785;0.53	T	0.00763	-1.1576	10	0.41790	T	0.15	.	14.4484	0.67367	0.0:0.0:0.0:1.0	.	1046;1046	Q93008-1;Q93008	.;USP9X_HUMAN	R	1046	ENSP00000367558:L1046R;ENSP00000316357:L1046R	ENSP00000316357:L1046R	L	+	2	0	0	USP9X	40916144	40916144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.791000	0.52520	0.481000	0.45027	CTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	1		2	2	2	0		0	0	125		125	122	1	2.060000	-3.108004	1	0.170000	NM_004652			14	14		503	494	0		1	1		0	0	125	0		9.997279e-01	8.468906e-01	0	3	0	121	0	14	503
USP9X	8239	broad.mit.edu	37	X	41075627	41075627	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1936	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			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						ATGATGAAGCGTATGTCATAC	0.373																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(5806-5808)cGt>cAt		ubiquitin specific peptidase 9, X-linked							160.0	151.0	154.0					X																	41075627		2199	4297	6496	SO:0001583	missense	8239	0	0					g.chrX:41075627G>A	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.5807G>A	chrX.hg19:g.41075627G>A	ENSP00000316357:p.Arg1936His						USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	0	1	1		Q93008	USP9X_HUMAN		35	6440	+			O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	1	1	hg19	c.5807G>A	CCDS43930.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.8	5.8	0.92144	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.77313	2.365	0.80722	D	1	D;P	0.89917	1.0;0.65	D;B	0.65233	0.933;0.372	T	0.00134	-1.2009	10	0.48119	T	0.1	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1936;1936	Q93008-1;Q93008	.;USP9X_HUMAN	H	1936	ENSP00000367558:R1936H;ENSP00000316357:R1936H	ENSP00000316357:R1936H	R	+	2	0	0	USP9X	40960571	40960571	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	1		16	7	2	1		1	1	148		148	147	1	2.060000	-20.000000	1	0.170000	NM_004652			144	142		521	513	1		1	1		1	0	148	0		1	1	0	59	0	124	0	144	521
DDX3X	1654	broad.mit.edu	37	X	41204512	41204512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378										HNSCC(61;0.18)																												ENST00000399959.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				84						c.(1105-1107)Act>Gct		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							141.0	135.0	137.0					X																	41204512		2167	4289	6456	SO:0001583	missense	1654	0	0					g.chrX:41204512A>G	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1105A>G	chrX.hg19:g.41204512A>G	ENSP00000382840:p.Thr369Ala		HNSCC(61;0.18)				RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A	p.T369A	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	0	1	1		O00571	DDX3X_HUMAN		11	1960	+			A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	1	1	hg19	c.1105A>G	CCDS43931.1	1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920645	0.52653	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16897	2.31;2.31	5.37	5.37	0.77165	5.37	5.37	0.77165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.10874	0.06	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.001	B;B;B;B	0.15052	0.012;0.008;0.012;0.012	T	0.11767	-1.0574	10	0.36615	T	0.2	-5.5069	14.5265	0.67892	1.0:0.0:0.0:0.0	.	369;353;381;369	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	A	369;353	ENSP00000382840:T369A;ENSP00000392494:T353A	ENSP00000382840:T369A	T	+	1	0	0	DDX3X	41089456	41089456	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.520000	0.81821	1.810000	0.52873	0.427000	0.28365	ACT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_024005			143	141		443	433	1		1	1		0	0	111	0		1	1	0	321	0	293	0	143	443
NYX	60506	broad.mit.edu	37	X	41333654	41333654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	316					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCCTCACCGTGCTCGCCTGGG	0.667																																						ENST00000342595.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(946-948)gtG>gtA		nyctalopin							44.0	41.0	42.0					X																	41333654		2203	4299	6502	SO:0001819	synonymous_variant	60506	0	0					g.chrX:41333654G>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.948G>A	chrX.hg19:g.41333654G>A							NYX_ENST00000378220.1_Silent_p.V316V	p.V316V	NM_022567.2	NP_072089.1	0	1	1		Q9GZU5	NYX_HUMAN		2	1404	+			D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	1	1	hg19	c.948G>A	CCDS14256.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.667	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	1	0	1		2	2	2	0		0	0	63		63	63	1	2.060000	-20.000000	1	0.170000	NM_022567			99	97		265	261	1		1			0	0	63	0		1	0	0	0	0	0	0	99	265
CASK	8573	broad.mit.edu	37	X	41437686	41437686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000378163.1	-	15	1884	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000442742.2_Silent_p.G470G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTGGAGAATCGCCGTTTAAAT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000378163.1	1.000000	0.850000	1	9.900000e-01	0.990000	0.989878	0.990000	1.000000																										0				32						c.(1408-1410)ggC>ggT		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							128.0	101.0	110.0					X																	41437686		2203	4300	6503	SO:0001819	synonymous_variant	8573	0	0					g.chrX:41437686G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1410C>T	chrX.hg19:g.41437686G>A							CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G	p.G470G			0	1	1		O14936	CSKP_HUMAN		15	1884	-			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	1	1	hg19	c.1410C>T		1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	1	0	1		2	2	2	0		0	0	49		49	48	1	2.060000	-3.318798	1	0.170000	NM_003688			30	29		256	253	1		1	1		0	0	49	0		1	9.999565e-01	0	37	0	98	0	30	256
NDP	4693	broad.mit.edu	37	X	43817734	43817734	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	53	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473																																						ENST00000378062.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(157-159)tAc>tGc		Norrie disease (pseudoglioma)							178.0	136.0	151.0					X																	43817734		2203	4300	6503	SO:0001583	missense	4693	0	0					g.chrX:43817734T>C	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.158A>G	chrX.hg19:g.43817734T>C	ENSP00000367301:p.Tyr53Cys						NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	p.Y53C	NM_000266.3	NP_000257.1	0	1	1		Q00604	NDP_HUMAN		2	565	-			B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	1	1	hg19	c.158A>G	CCDS14262.1	1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700482	0.68501	.	.	ENSG00000124479	ENST00000378062	D	0.90676	-2.71	5.98	5.98	0.97165	5.98	5.98	0.97165	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.92428	0.5951	10	0.72032	D	0.01	-29.3628	15.3225	0.74132	0.0:0.0:0.0:1.0	.	53	Q00604	NDP_HUMAN	C	53	ENSP00000367301:Y53C	ENSP00000367301:Y53C	Y	-	2	0	0	NDP	43702678	43702678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.002000	0.58637	0.486000	0.48141	TAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	1	0	1		2	2	2	0		0	0	111		111	111	1	2.060000	-20.000000	1	0.170000	NM_000266			95	95		339	337	1		1	0		0	0	111	0		1	3.938588e-01	0	0	0	6	0	95	339
CXorf36	79742	broad.mit.edu	37	X	45059910	45059910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	54						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428																																						ENST00000398000.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(160-162)ttC>ttT		chromosome X open reading frame 36							79.0	74.0	75.0					X																	45059910		2203	4300	6503	SO:0001819	synonymous_variant	79742	0	0					g.chrX:45059910G>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.162C>T	chrX.hg19:g.45059910G>A							CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	p.F54F	NM_176819.3	NP_789789.2	0	1	1		Q9H7Y0	DIA1R_HUMAN		1	236	-			A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	1	1	hg19	c.162C>T	CCDS48096.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	1	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-20.000000	1	0.170000	NM_024689			69	69		257	254	1		1	0		0	0	71	0		1	9.845845e-01	0	0	0	27	0	69	257
SLC9A7	84679	broad.mit.edu	37	X	46480434	46480434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	600					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1798-1800)Ctg>Atg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							167.0	99.0	122.0					X																	46480434		2203	4300	6503	SO:0001583	missense	84679	0	0					g.chrX:46480434G>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1798C>A	chrX.hg19:g.46480434G>T	ENSP00000330320:p.Leu600Met						SLC9A7_ENST00000464933.1_5'UTR	p.L600M	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	0	1	1		Q96T83	SL9A7_HUMAN		15	1823	-			O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	1	1	hg19	c.1798C>A	CCDS14269.1	1	.	.	.	.	.	.	.	.	.	.	g	7.689	0.690640	0.15039	.	.	ENSG00000065923	ENST00000328306	T	0.46063	0.88	5.34	4.48	0.54585	5.34	4.48	0.54585	.	0.149626	0.45361	D	0.000364	T	0.27454	0.0674	L	0.35341	1.055	0.38746	D	0.953991	B	0.24618	0.107	B	0.19946	0.027	T	0.14448	-1.0472	10	0.33940	T	0.23	.	5.0467	0.14487	0.1844:0.1684:0.6471:0.0	.	600	Q96T83	SL9A7_HUMAN	M	600	ENSP00000330320:L600M	ENSP00000330320:L600M	L	-	1	2	2	SLC9A7	46365378	46365378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.914000	0.28624	1.234000	0.43709	0.597000	0.82753	CTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	1	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-20.000000	1	0.170000	NM_032591			34	33		83	82	1		1	1		0	0	23	0		1	9.962861e-01	0	13	0	12	0	34	83
RBM10	8241	broad.mit.edu	37	X	47039844	47039844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H|RBM10_ENST00000478410.1_3'UTR	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	396			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R396H(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						GAAGGCAGTCGCATCAGTGCT	0.627																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	48						c.(1186-1188)cGc>cAc		RNA binding motif protein 10							42.0	33.0	36.0					X																	47039844		2203	4300	6503	SO:0001583	missense	8241	0	0					g.chrX:47039844G>A	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.1187G>A	chrX.hg19:g.47039844G>A	ENSP00000366829:p.Arg396His						RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	p.R396H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	0	1	1		P98175	RBM10_HUMAN		12	1929	+			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	1	1	hg19	c.1187G>A	CCDS14274.1	1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537587	0.65085	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.74;2.07;2.33	2.92	2.92	0.33932	2.92	2.92	0.33932	.	0.074216	0.53938	D	0.000050	T	0.39091	0.1065	M	0.62723	1.935	0.34688	D	0.725429	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.994;0.999	T	0.50642	-0.8804	10	0.37606	T	0.19	-11.582	11.024	0.47734	0.0:0.0:1.0:0.0	.	319;461;395;318;396	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	396;318;319	ENSP00000366829:R396H;ENSP00000328848:R318H;ENSP00000329659:R319H	ENSP00000328848:R318H	R	+	2	0	0	RBM10	46924788	46924788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.112000	0.94314	1.724000	0.51502	0.525000	0.51046	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	1	0	1		2	2	5	0		0	0	37		37	37	1	2.060000	-20.000000	1	0.170000	NM_005676			27	27		104	101	1		1	1	1	0	1	37	156		1	9.999936e-01	9.999947e-01	37	28	44	99	27	104
UBA1	7317	broad.mit.edu	37	X	47058959	47058959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	142	2 approximate repeats.				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)			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						ACAGCTATGTGCCTGTCACTG	0.567																																						ENST00000335972.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(424-426)gtG>gtA		ubiquitin-like modifier activating enzyme 1							127.0	117.0	120.0					X																	47058959		2203	4300	6503	SO:0001819	synonymous_variant	7317	0	0					g.chrX:47058959G>A	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.426G>A	chrX.hg19:g.47058959G>A							UBA1_ENST00000377351.4_Silent_p.V142V	p.V142V	NM_003334.3	NP_003325.2	0	1	1		P22314	UBA1_HUMAN		5	609	+			Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	1	1	hg19	c.426G>A	CCDS14275.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	1	0	1		2	2	2	0		0	0	146		146	141	1	2.060000	-20.000000	1	0.170000	NM_003334			154	151		545	541	1		1	1		0	0	146	0		1	1	0	306	0	306	0	154	545
UBA1	7317	broad.mit.edu	37	X	47065399	47065399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000490869.1_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377269.3_5'Flank	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	543	2 approximate repeats.				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)			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						AATCCACATATCCGGGTGACA	0.522																																						ENST00000335972.6	1.000000	0.470000	1	7.100000e-01	0.990000	0.892818	0.990000	1.000000																										0				31						c.(1627-1629)aTc>aCc		ubiquitin-like modifier activating enzyme 1							47.0	35.0	39.0					X																	47065399		2201	4299	6500	SO:0001583	missense	7317	0	0					g.chrX:47065399T>C	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.1628T>C	chrX.hg19:g.47065399T>C	ENSP00000338413:p.Ile543Thr						UBA1_ENST00000490869.1_Intron|UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000377269.3_5'Flank|INE1_ENST00000456273.1_RNA	p.I543T	NM_003334.3	NP_003325.2	0	1	1		P22314	UBA1_HUMAN		15	1811	+			Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	0	1	hg19	c.1628T>C	CCDS14275.1	1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253058	0.59212	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.46819	0.86;0.86	4.63	4.63	0.57726	4.63	4.63	0.57726	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.259842	0.38720	N	0.001585	T	0.49338	0.1551	L	0.55990	1.75	0.80722	D	1	B	0.31256	0.316	B	0.39339	0.297	T	0.54357	-0.8306	10	0.72032	D	0.01	-20.5189	12.3933	0.55370	0.0:0.0:0.0:1.0	.	543	P22314	UBA1_HUMAN	T	543	ENSP00000366568:I543T;ENSP00000338413:I543T	ENSP00000338413:I543T	I	+	2	0	0	UBA1	46950343	46950343	0.983000	0.35010	0.849000	0.33467	0.954000	0.61252	7.959000	0.87885	1.630000	0.50440	0.483000	0.47432	ATC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-12.937420	1	0.170000	NM_003334			7	7		74	68	1		1	1		0	0	20	0		9.765420e-01	1	0	82	0	730	0	7	74
USP11	8237	broad.mit.edu	37	X	47103898	47103898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000218348.3	+	14	1921	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP11_ENST00000377107.2_Splice_Site_p.R598C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	641	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)			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						CTGTTGCAGACGCTACGTGAC	0.542																																						ENST00000218348.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(1921-1923)Cgc>Tgc		ubiquitin specific peptidase 11							87.0	70.0	76.0					X																	47103898		2203	4300	6503	SO:0001630	splice_region_variant	8237	2	121410	27				g.chrX:47103898C>T	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.1920-1C>T	chrX.hg19:g.47103898C>T							USP11_ENST00000377107.2_Splice_Site_p.R598C	p.R641C	NM_004651.3	NP_004642.2	0	1	1		P51784	UBP11_HUMAN		14	1921	+			B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	1	0	hg19	c.1921C>T	CCDS14277.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651027	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.26067	1.78;1.76	3.91	3.91	0.45181	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.239380	0.34853	N	0.003627	T	0.32704	0.0838	M	0.75884	2.315	0.52099	D	0.999941	P;P	0.43542	0.81;0.5	B;B	0.43701	0.428;0.096	T	0.25257	-1.0137	10	0.87932	D	0	-18.5693	10.4162	0.44322	0.0:1.0:0.0:0.0	.	368;641	B3KP28;P51784	.;UBP11_HUMAN	C	598;641	ENSP00000366311:R598C;ENSP00000218348:R641C	ENSP00000218348:R641C	R	+	1	0	0	USP11	46988842	46988842	0.997000	0.39634	0.996000	0.52242	0.955000	0.61496	1.207000	0.32333	2.217000	0.71921	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0		2	2	2	0		0	0	42		42	41	1	2.060000	-19.966870	1	0.170000	NM_004651	Missense_Mutation		37	36		174	172	1		1	1		0	0	42	0		1	1	0	22	0	175	0	37	174
USP11	8237	broad.mit.edu	37	X	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000218348.3	+	14	1956	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	USP11_ENST00000377107.2_Missense_Mutation_p.D609E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652	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)			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						ATGATGAGGACGATGGGGATG	0.567																																						ENST00000218348.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				40						c.(1954-1956)gaC>gaA		ubiquitin specific peptidase 11							79.0	63.0	68.0					X																	47103933		2203	4300	6503	SO:0001583	missense	8237	0	0					g.chrX:47103933C>A	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.1956C>A	chrX.hg19:g.47103933C>A	ENSP00000218348:p.Asp652Glu						USP11_ENST00000377107.2_Missense_Mutation_p.D609E	p.D652E	NM_004651.3	NP_004642.2	0	1	1		P51784	UBP11_HUMAN		14	1956	+			B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	1	1	hg19	c.1956C>A	CCDS14277.1	1	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488887	0.04352	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19806	2.13;2.12	5.29	-10.6	0.00265	5.29	-10.6	0.00265	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.08088	0.0202	N	0.17082	0.46	0.19945	N	0.999943	B;B	0.30511	0.011;0.282	B;B	0.25506	0.061;0.057	T	0.08330	-1.0727	10	0.11182	T	0.66	-11.0471	15.5878	0.76499	0.0787:0.6963:0.0:0.225	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	E	609;652	ENSP00000366311:D609E;ENSP00000218348:D652E	ENSP00000218348:D652E	D	+	3	2	2	USP11	46988877	46988877	0.001000	0.12720	0.049000	0.19019	0.845000	0.48019	-4.332000	0.00251	-3.730000	0.00114	-1.851000	0.00568	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0		2	2	2	0		0	0	46		46	46	1	2.060000	-19.989790	1	0.170000	NM_004651			38	39		180	176	1		1	1		0	0	46	0		1	1	0	42	0	175	0	38	180
ZNF41	7592	broad.mit.edu	37	X	47307548	47307548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413																																						ENST00000377065.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1621-1623)Cac>Tac		zinc finger protein 41							94.0	88.0	90.0					X																	47307548		2203	4300	6503	SO:0001583	missense	7592	0	0					g.chrX:47307548G>A	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.1621C>T	chrX.hg19:g.47307548G>A	ENSP00000366265:p.His541Tyr						ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	p.H541Y	NM_153380.2	NP_700359.1	0	1	1		P51814	ZNF41_HUMAN		5	2260	-		all_lung(315;0.000129)	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	1	1	hg19	c.1621C>T	CCDS14279.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005915	0.54254	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.11	0.35812	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002200	D	0.94450	0.8214	H	0.95816	3.725	0.25229	N	0.989845	P;P;D;P;P	0.89917	0.635;0.635;1.0;0.817;0.848	B;B;D;B;P	0.83275	0.175;0.175;0.996;0.239;0.485	D	0.87312	0.2312	10	0.87932	D	0	.	8.9846	0.35986	0.115:0.0:0.885:0.0	.	541;543;551;575;583	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	541;541;551	ENSP00000315173:H541Y;ENSP00000366265:H541Y;ENSP00000380243:H551Y	ENSP00000315173:H541Y	H	-	1	0	0	ZNF41	47192492	47192492	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.789000	0.75110	1.035000	0.39972	0.600000	0.82982	CAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	1	0	1		2	2	2	0		0	0	91		91	91	1	2.060000	-20.000000	1	0.170000	NM_153380			80	79		308	299	1		1	1		0	0	91	0		1	9.879284e-01	0	11	0	18	0	80	308
ZNF41	7592	broad.mit.edu	37	X	47307946	47307946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418																																						ENST00000377065.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1222-1224)gAg>gCg		zinc finger protein 41							100.0	90.0	93.0					X																	47307946		2203	4300	6503	SO:0001583	missense	7592	0	0					g.chrX:47307946T>G	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.1223A>C	chrX.hg19:g.47307946T>G	ENSP00000366265:p.Glu408Ala						ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	p.E408A	NM_153380.2	NP_700359.1	0	1	1		P51814	ZNF41_HUMAN		5	1862	-		all_lung(315;0.000129)	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	1	1	hg19	c.1223A>C	CCDS14279.1	1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885366	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.27557	1.66;1.66;1.66	3.57	3.57	0.40892	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	T	0.51466	0.1676	M	0.73598	2.24	0.29448	N	0.858655	D;D;P;D;D	0.76494	0.999;0.999;0.46;0.999;0.999	D;D;B;D;D	0.77004	0.973;0.973;0.301;0.98;0.989	T	0.50651	-0.8803	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:0.0:1.0	.	408;410;418;442;450	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	408;408;418	ENSP00000315173:E408A;ENSP00000366265:E408A;ENSP00000380243:E418A	ENSP00000315173:E408A	E	-	2	0	0	ZNF41	47192890	47192890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.118000	0.64673	1.652000	0.50683	0.481000	0.45027	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	1	0	1		2	2	2	0		0	0	109		109	107	1	2.060000	-20.000000	1	0.170000	NM_153380			128	126		426	415	1		1	1		0	0	109	0		1	9.838530e-01	0	11	0	13	0	128	426
ARAF	369	broad.mit.edu	37	X	47429401	47429401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587																																						ENST00000377045.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999946	0.990000	1.000000																										0				29						c.(1528-1530)aGc>aAc		A-Raf proto-oncogene, serine/threonine kinase	Adenosine triphosphate(DB00171)						64.0	38.0	47.0					X																	47429401		2203	4300	6503	SO:0001583	missense	369	0	0					g.chrX:47429401G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1529G>A	chrX.hg19:g.47429401G>A	ENSP00000366244:p.Ser510Asn						ARAF_ENST00000470206.1_3'UTR	p.S510N	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	0	1	1		P10398	ARAF_HUMAN		14	1723	+			P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	1	1	hg19	c.1529G>A	CCDS35232.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175564	0.78564	.	.	ENSG00000078061	ENST00000377045	D	0.82803	-1.65	4.92	4.92	0.64577	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170092	0.53938	D	0.000055	T	0.81498	0.4835	N	0.24115	0.695	0.80722	D	1	P	0.52463	0.953	P	0.57283	0.817	T	0.83154	-0.0102	10	0.66056	D	0.02	.	10.7924	0.46440	0.0:0.1877:0.8123:0.0	.	510	P10398	ARAF_HUMAN	N	510	ENSP00000366244:S510N	ENSP00000366244:S510N	S	+	2	0	0	ARAF	47314345	47314345	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.167000	0.68274	0.513000	0.50165	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1	1	0	1		2	2	2	0		0	0	16		16	15	1	2.060000	-20.000000	1	0.170000				17	16		58	56	1		1	1		0	0	16	0		9.999777e-01	9.999999e-01	0	60	0	67	0	17	58
CFP	5199	broad.mit.edu	37	X	47487033	47487033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000396992.3	-	4	531	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000247153.3_Silent_p.G137G|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	137	TSP type-1 2. {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)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGACCAGCCGCCCATCTCTG	0.612																																						ENST00000396992.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999065	0.990000	1.000000																										0				18						c.(409-411)ggC>ggT		complement factor properdin							11.0	12.0	12.0					X																	47487033		2197	4282	6479	SO:0001819	synonymous_variant	5199	0	0					g.chrX:47487033G>A	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.411C>T	chrX.hg19:g.47487033G>A							CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.G137G	p.G137G	NM_001145252.1	NP_001138724.1	0	1	1		P27918	PROP_HUMAN		4	531	-			O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	1	1	hg19	c.411C>T	CCDS14282.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	1	0	1		2	2	2	0		0	0	20		20	19	1	2.060000	-19.999980	1	0.170000	NM_002621			14	13		66	63	1		1	0		0	0	20	0		9.997791e-01	1.590194e-01	0	0	0	4	0	14	66
ZNF81	347344	broad.mit.edu	37	X	47775190	47775190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCATACTGGAGAAAAACTC	0.398																																						ENST00000376954.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(1144-1146)gGa>gAa		zinc finger protein 81							59.0	59.0	59.0					X																	47775190		2191	4295	6486	SO:0001583	missense	347344	0	0					g.chrX:47775190G>A	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.1145G>A	chrX.hg19:g.47775190G>A	ENSP00000366153:p.Gly382Glu						ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E	p.G382E			0	1	1		P51508	ZNF81_HUMAN		6	1513	+		all_lung(315;0.0973)	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	1	1	hg19	c.1145G>A	CCDS43933.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846366	0.51164	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25749	1.78;1.78	4.16	3.29	0.37713	4.16	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000708	T	0.21347	0.0514	L	0.27975	0.815	0.31963	N	0.608155	P	0.47677	0.899	P	0.46585	0.521	T	0.18429	-1.0337	10	0.72032	D	0.01	.	8.9002	0.35490	0.1139:0.0:0.8861:0.0	.	382	P51508	ZNF81_HUMAN	E	382	ENSP00000366153:G382E;ENSP00000341151:G382E	ENSP00000341151:G382E	G	+	2	0	0	ZNF81	47660134	47660134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.324000	0.59228	1.102000	0.41551	0.600000	0.82982	GGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	1	0	1		2	2	2	0		0	0	80		80	80	1	2.060000	-4.038413	1	0.170000	NM_007137			80	75		272	259	1		1	1		0	0	80	0		1	2.272352e-01	0	2	0	2	0	80	272
SLC38A5	92745	broad.mit.edu	37	X	48317422	48317422	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000317669.5_Splice_Site|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCACAGGGCCTGTGGGCCAGA	0.567																																						ENST00000376876.3	1.000000	0.920000	1	9.900000e-01	0.990000	0.994684	0.990000	1.000000																										0				19						c.e16-2		solute carrier family 38, member 5							43.0	38.0	39.0					X																	48317422		2198	4278	6476	SO:0001630	splice_region_variant	92745	0	0					g.chrX:48317422T>C	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1318-2A>G	chrX.hg19:g.48317422T>C							SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site				0	1	1		Q8WUX1	S38A5_HUMAN		16	2161	-			B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Splice_Site	SNP	ENST00000376876.3	1	1	hg19		CCDS14293.1	1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746127	0.30955	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7927	0.52078	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC38A5	48202366	48202366	1.000000	0.71417	0.968000	0.41197	0.187000	0.23431	7.138000	0.77305	1.686000	0.51046	0.425000	0.28330	.	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-15.552510	1	0.170000	NM_033518	Intron		7	7		26	26	1		1	0		0	0	15	0		9.847605e-01	0	0	0	0	1	0	7	26
FTSJ1	24140	broad.mit.edu	37	X	48339583	48339583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000348411.2	+	6	729	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000019019.2_Missense_Mutation_p.L136F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCCAGCTCCTCCTAGCTGT	0.592																																						ENST00000348411.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(406-408)Ctc>Ttc		FtsJ RNA methyltransferase homolog 1 (E. coli)							109.0	78.0	89.0					X																	48339583		2203	4300	6503	SO:0001583	missense	24140	0	0					g.chrX:48339583C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.406C>T	chrX.hg19:g.48339583C>T	ENSP00000326948:p.Leu136Phe						FTSJ1_ENST00000019019.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F	p.L136F	NM_012280.2	NP_036412.1	0	1	1					6	729	+				Missense_Mutation	SNP	ENST00000348411.2	1	1	hg19	c.406C>T	CCDS14294.1	1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775117	0.49786	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33654	1.4;1.4;1.4	4.47	4.47	0.54385	4.47	4.47	0.54385	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.080390	0.51477	D	0.000087	T	0.59742	0.2216	M	0.80616	2.505	0.80722	D	1	D;P;D	0.69078	0.997;0.81;0.984	D;P;D	0.78314	0.991;0.875;0.949	T	0.65059	-0.6260	10	0.87932	D	0	-7.014	11.6808	0.51457	0.0:1.0:0.0:0.0	.	136;136;136	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	136	ENSP00000019019:L136F;ENSP00000326948:L136F;ENSP00000415457:L136F	ENSP00000019019:L136F	L	+	1	0	0	FTSJ1	48224527	48224527	1.000000	0.71417	0.964000	0.40570	0.016000	0.09150	4.594000	0.61041	2.241000	0.73720	0.507000	0.49892	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1	1	0	1		2	2	2	0		0	0	27		27	26	1	2.060000	-20.000000	1	0.170000				34	32		108	105	1		1	1		0	0	27	0		1	1	0	76	0	77	0	34	108
FTSJ1	24140	broad.mit.edu	37	X	48340860	48340860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000348411.2	+	10	1048	c.725G>T	c.(724-726)aGc>aTc	p.S242I	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000019019.2_Missense_Mutation_p.S240I	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGGGACCTGAGCTCCTATGAT	0.562																																						ENST00000348411.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				7						c.(724-726)aGc>aTc		FtsJ RNA methyltransferase homolog 1 (E. coli)							134.0	89.0	104.0					X																	48340860		2203	4300	6503	SO:0001583	missense	24140	0	0					g.chrX:48340860G>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.725G>T	chrX.hg19:g.48340860G>T	ENSP00000326948:p.Ser242Ile						FTSJ1_ENST00000019019.2_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I	p.S242I	NM_012280.2	NP_036412.1	0	1	1					10	1048	+				Missense_Mutation	SNP	ENST00000348411.2	1	1	hg19	c.725G>T	CCDS14294.1	1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419145	0.62622	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T	0.50813	0.73;0.73;0.73	5.37	3.6	0.41247	5.37	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90759	3.145	0.45930	D	0.998761	D;D;D;P	0.67145	0.996;0.968;0.981;0.672	D;P;D;B	0.66351	0.943;0.753;0.914;0.313	T	0.69942	-0.5008	10	0.72032	D	0.01	-20.688	7.8376	0.29378	0.1976:0.0:0.8024:0.0	.	105;242;240;240	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	I	240;242;105;240	ENSP00000019019:S240I;ENSP00000326948:S242I;ENSP00000415457:S240I	ENSP00000019019:S240I	S	+	2	0	0	FTSJ1	48225804	48225804	1.000000	0.71417	0.469000	0.27204	0.599000	0.36880	8.320000	0.89995	0.583000	0.29574	0.507000	0.49892	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.562	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1	1	0	1		2	2	2	0		0	0	25		25	22	1	2.060000	-20.000000	1	0.170000				40	38		116	114	1		1	1		0	0	25	0		1	1	0	86	0	61	0	40	116
PORCN	64840	broad.mit.edu	37	X	48370880	48370880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000326194.6	+	4	583	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000537758.1_Silent_p.V180V	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	180					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612																																						ENST00000326194.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999985	0.990000	1.000000																										0				30						c.(538-540)gtC>gtT		porcupine homolog (Drosophila)							46.0	35.0	39.0					X																	48370880		2203	4299	6502	SO:0001819	synonymous_variant	64840	0	0					g.chrX:48370880C>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.540C>T	chrX.hg19:g.48370880C>T							PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V	p.V180V	NM_203475.1	NP_982301.1	0	1	1		Q9H237	PORCN_HUMAN		4	583	+			B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	1	1	hg19	c.540C>T	CCDS14299.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	0	0	1		2	2	2	0		0	0	25		25	23	1	2.060000	-20.000000	1	0.170000	NM_022825			19	19		60	58	1		1	1		0	0	25	0		9.999955e-01	9.998176e-01	0	35	0	16	0	19	60
TBC1D25	4943	broad.mit.edu	37	X	48418517	48418517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.Y153Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	407	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557																																						ENST00000376771.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				4						c.(1219-1221)taC>taT		TBC1 domain family, member 25							33.0	23.0	26.0					X																	48418517		2203	4299	6502	SO:0001819	synonymous_variant	4943	0	0					g.chrX:48418517C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1221C>T	chrX.hg19:g.48418517C>T							snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.Y153Y	p.Y407Y	NM_002536.2	NP_002527.1	0	1	1		Q3MII6	TBC25_HUMAN		6	1562	+			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	1	1	hg19	c.1221C>T	CCDS35242.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	1	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_002536			20	20		72	70	1		1	1		0	0	20	0		9.999976e-01	9.999712e-01	0	32	0	38	0	20	72
TBC1D25	4943	broad.mit.edu	37	X	48419054	48419054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	586					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597																																						ENST00000376771.4	0.540000	0.200000	4.500000e-01	2.700000e-01	0.350000	0.364329	0.350000	0.340000																										0				4						c.(1756-1758)gaG>gaT		TBC1 domain family, member 25							89.0	76.0	80.0					X																	48419054		2203	4300	6503	SO:0001583	missense	4943	0	0					g.chrX:48419054G>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1758G>T	chrX.hg19:g.48419054G>T	ENSP00000365962:p.Glu586Asp						snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	p.E586D	NM_002536.2	NP_002527.1	0	1	1		Q3MII6	TBC25_HUMAN		6	2099	+			Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	1	1	hg19	c.1758G>T	CCDS35242.1	0	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390994	0.04932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.49;2.48	4.73	3.86	0.44501	4.73	3.86	0.44501	Rab-GAP/TBC domain (1);	0.939161	0.08968	N	0.867691	T	0.13841	0.0335	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25257	-1.0137	10	0.49607	T	0.09	-13.5907	11.8855	0.52600	0.0:0.1872:0.8128:0.0	.	590;528;586	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	586;332	ENSP00000365962:E586D;ENSP00000444091:E332D	ENSP00000365962:E586D	E	+	3	2	2	TBC1D25	48303998	48303998	0.262000	0.24073	0.184000	0.23157	0.294000	0.27393	0.335000	0.19806	0.906000	0.36621	0.436000	0.28706	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	0	0	1		16	2	2	0		0	1	126		126	123	1	2.060000	-3.653008	1	0.170000	NM_002536			16	16		526	514	0		1	1		0	0	126	0		5.433743e-01	6.577495e-01	0	4	0	70	0	16	526
HDAC6	10013	broad.mit.edu	37	X	48674663	48674663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	ENST00000334136.5	+	18	1787	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F|HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	537	Histone deacetylase 2.				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)			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)	GGCTGAGCTGCTCACCTGTCA	0.662																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(1609-1611)Ctc>Ttc		histone deacetylase 6	Vorinostat(DB02546)						21.0	20.0	20.0					X																	48674663		2203	4296	6499	SO:0001583	missense	10013	0	0					g.chrX:48674663C>T	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.1609C>T	chrX.hg19:g.48674663C>T	ENSP00000334061:p.Leu537Phe						HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F	p.L537F			0	1	1		Q9UBN7	HDAC6_HUMAN		18	1787	+			O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	0	1	hg19	c.1609C>T	CCDS14306.1	1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139103	0.09083	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.85	4.08	0.47627	5.85	4.08	0.47627	Histone deacetylase domain (2);	0.398067	0.26159	N	0.025993	T	0.69682	0.3138	M	0.86502	2.82	0.42683	D	0.993555	B;B;B	0.15473	0.005;0.013;0.005	B;B;B	0.23852	0.023;0.049;0.023	T	0.60089	-0.7331	10	0.09843	T	0.71	-15.8329	8.3677	0.32397	0.154:0.7629:0.0:0.0831	.	527;185;537	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	F	551;537;537;537	ENSP00000398566:L551F;ENSP00000334061:L537F;ENSP00000365804:L537F	ENSP00000334061:L537F	L	+	1	0	0	HDAC6	48559607	48559607	0.951000	0.32395	0.992000	0.48379	0.622000	0.37654	1.277000	0.33167	0.592000	0.29728	-1.026000	0.02426	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.662	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	0	0	1		2	2	2	0		0	0	38		38	35	1	2.060000	-20.000000	1	0.170000	NM_006044			44	43		138	136	0		1	1		0	0	38	0		1	9.999808e-01	0	27	0	29	0	44	138
SLC35A2	7355	broad.mit.edu	37	X	48762679	48762679	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48762679C>A	ENST00000247138.5	-	4	510	c.507G>T	c.(505-507)tgG>tgT	p.W169C	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.W108C|SLC35A2_ENST00000376521.1_Missense_Mutation_p.W169C|SLC35A2_ENST00000452555.2_Missense_Mutation_p.W197C	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	169					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCAGGGAGGCCCACTGCAGCC	0.642																																						ENST00000247138.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999105	0.990000	1.000000																										0				15						c.(505-507)tgG>tgT		solute carrier family 35 (UDP-galactose transporter), member A2							42.0	30.0	34.0					X																	48762679		2200	4299	6499	SO:0001583	missense	7355	0	0					g.chrX:48762679C>A	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.507G>T	chrX.hg19:g.48762679C>A	ENSP00000247138:p.Trp169Cys						SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.W169C|SLC35A2_ENST00000413561.2_Missense_Mutation_p.W108C|SLC35A2_ENST00000452555.2_Missense_Mutation_p.W197C	p.W169C	NM_005660.1	NP_005651.1	0	1	1		P78381	S35A2_HUMAN		4	510	-			A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	0	0	hg19	c.507G>T	CCDS14311.1	1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587497	0.66105	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555;ENST00000446885	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.144298	0.51477	D	0.000085	D	0.88016	0.6324	H	0.94306	3.52	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	0.91116	0.4926	10	0.87932	D	0	-4.9124	14.3302	0.66550	0.0:1.0:0.0:0.0	.	108;197;182;169;169	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	C	169;169;108;197;97	ENSP00000247138:W169C;ENSP00000365704:W169C;ENSP00000393233:W108C;ENSP00000416002:W197C;ENSP00000415518:W97C	ENSP00000247138:W169C	W	-	3	0	0	SLC35A2	48647623	48647623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.916000	0.75776	2.356000	0.79943	0.600000	0.82982	TGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	1	0	1		2	2	2	0		0	0	12		12	12	1	2.060000	-19.999930	1	0.170000	NM_005660			13	13		57	57	1		1	1		0	0	12	0		9.997073e-01	9.999999e-01	0	142	0	41	0	13	57
SLC35A2	7355	broad.mit.edu	37	X	48767103	48767103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000247138.5	-	2	265	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	88					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597																																						ENST00000247138.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999997	0.990000	1.000000																										0				15						c.(262-264)Gca>Aca		solute carrier family 35 (UDP-galactose transporter), member A2							70.0	49.0	56.0					X																	48767103		2203	4300	6503	SO:0001583	missense	7355	0	0					g.chrX:48767103C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.262G>A	chrX.hg19:g.48767103C>T	ENSP00000247138:p.Ala88Thr						SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000376521.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T	p.A88T	NM_005660.1	NP_005651.1	0	1	1		P78381	S35A2_HUMAN		2	265	-			A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	1	1	hg19	c.262G>A	CCDS14311.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667952	0.29604	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T	0.46819	0.86;0.87;0.87;0.95	5.51	3.73	0.42828	5.51	3.73	0.42828	.	0.451423	0.22929	N	0.053937	T	0.25419	0.0618	N	0.22421	0.69	0.31803	N	0.628153	P;B;P;P;P;B;B	0.48350	0.848;0.049;0.835;0.552;0.909;0.03;0.087	B;B;B;B;B;B;B	0.37198	0.201;0.031;0.16;0.029;0.243;0.04;0.031	T	0.19943	-1.0290	10	0.22706	T	0.39	-6.0309	5.7861	0.18334	0.0:0.6974:0.0:0.3026	.	101;116;101;16;88;88;88	B4DSH7;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;S35A2_HUMAN	T	88;88;88;88;64;116;16;88	ENSP00000247138:A88T;ENSP00000365704:A88T;ENSP00000416002:A116T;ENSP00000415518:A16T	ENSP00000247138:A88T	A	-	1	0	0	SLC35A2	48652047	48652047	0.979000	0.34478	1.000000	0.80357	0.826000	0.46750	0.243000	0.18106	1.080000	0.41073	0.600000	0.82982	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	0	0	1		2	2	2	0		0	0	20		20	20	1	2.060000	-20.000000	1	0.170000	NM_005660			22	22		65	61	1		1	1		0	0	20	0		9.999994e-01	1	0	120	0	50	0	22	65
KCND1	3750	broad.mit.edu	37	X	48823034	48823034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	473					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CTGTTCAAAGGCAGAACGGTT	0.547																																						ENST00000218176.3	1.000000	0.380000	1	5.800000e-01	0.840000	0.808156	0.840000	1.000000																										0				24						c.(1417-1419)gCc>gTc		potassium voltage-gated channel, Shal-related subfamily, member 1	Dalfampridine(DB06637)						125.0	92.0	103.0					X																	48823034		2203	4300	6503	SO:0001583	missense	3750	0	0					g.chrX:48823034G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1418C>T	chrX.hg19:g.48823034G>A	ENSP00000218176:p.Ala473Val						KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	p.A473V	NM_004979.4	NP_004970.3	0	1	1		Q9NSA2	KCND1_HUMAN		4	2715	-			A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	1	1	hg19	c.1418C>T	CCDS14314.1	0	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017964	0.35606	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	5.66	5.66	0.87406	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.51422	1.61	0.58432	D	0.999999	B	0.32467	0.372	B	0.32090	0.14	T	0.76069	-0.3094	10	0.22109	T	0.4	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	473	Q9NSA2	KCND1_HUMAN	V	96;473	ENSP00000365660:A96V;ENSP00000218176:A473V	ENSP00000218176:A473V	A	-	2	0	0	KCND1	48707978	48707978	0.998000	0.40836	0.986000	0.45419	0.413000	0.31143	8.771000	0.91751	2.381000	0.81170	0.523000	0.50628	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	1	0	1		2	2	2	0		0	0	36		36	35	1	2.060000	-11.428430	1	0.170000	NM_004979			7	7		93	86	0		1	0		0	0	36	0		9.764962e-01	1.867712e-01	0	1	0	9	0	7	93
GRIPAP1	56850	broad.mit.edu	37	X	48840196	48840196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376441.1	-	15	1297	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.E368E|GRIPAP1_ENST00000376444.3_Silent_p.E376E	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	421						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517																																						ENST00000376441.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(1261-1263)gaG>gaA		GRIP1 associated protein 1							240.0	174.0	196.0					X																	48840196		2203	4300	6503	SO:0001819	synonymous_variant	56850	0	0					g.chrX:48840196C>T	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.1263G>A	chrX.hg19:g.48840196C>T							GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.E368E|GRIPAP1_ENST00000376444.3_Silent_p.E376E	p.E421E	NM_020137.3	NP_064522.3	0	1	1		Q4V328	GRAP1_HUMAN		15	1297	-			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	1	1	hg19	c.1263G>A	CCDS35248.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	1	0	1		2	2	2	0		0	0	146		146	146	1	2.060000	-20.000000	1	0.170000	NM_207672			97	93		401	376	1		1	1		0	0	146	0		1	1	0	102	0	62	0	97	401
TFE3	7030	broad.mit.edu	37	X	48888050	48888050	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	449					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|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)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7	1.000000	0.530000	9.800000e-01	6.600000e-01	0.810000	0.813809	0.810000	1.000000				Dom	yes			Dom	yes		X	Xp11.22	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3				E	E	SFPQ, ASPSCR1, PRCC, NONO, CLTC		papillary renal, alveolar soft part sarcoma, renal	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				1						c.(1345-1347)tcC>tcA		transcription factor binding to IGHM enhancer 3							54.0	49.0	51.0					X																	48888050		2203	4300	6503	SO:0001819	synonymous_variant	7030	0	0					g.chrX:48888050G>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1347C>A	chrX.hg19:g.48888050G>T							TFE3_ENST00000487451.1_5'Flank	p.S449S	NM_006521.4	NP_006512.2	0	1	1		P19532	TFE3_HUMAN		10	1606	-			A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	1	1	hg19	c.1347C>A	CCDS14315.3	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.587	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	1	0	1		2	2	2	0		0	0	77		77	74	1	2.060000	-3.221883	1	0.170000	NM_006521			23	21		311	303	1		1	1		0	0	77	0		9.999992e-01	9.997608e-01	0	28	0	152	0	23	311
GPKOW	27238	broad.mit.edu	37	X	48972297	48972297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	363						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582																																						ENST00000156109.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1087-1089)cGt>cAt		G patch domain and KOW motifs							69.0	57.0	61.0					X																	48972297		2203	4300	6503	SO:0001583	missense	27238	16	121410	39				g.chrX:48972297C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1088G>A	chrX.hg19:g.48972297C>T	ENSP00000156109:p.Arg363His							p.R363H	NM_015698.4	NP_056513.2	0	1	1		Q92917	GPKOW_HUMAN		8	1166	-			Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	1	1	hg19	c.1088G>A	CCDS35251.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946815	0.53186	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.49	3.7	0.42460	5.49	3.7	0.42460	.	0.176102	0.47093	N	0.000246	T	0.73024	0.3534	M	0.87900	2.915	0.37697	D	0.924083	D	0.89917	1.0	D	0.71656	0.974	T	0.73241	-0.4045	9	0.23302	T	0.38	-2.0599	7.6099	0.28124	0.163:0.7496:0.0:0.0874	.	363	Q92917	GPKOW_HUMAN	H	363	.	ENSP00000156109:R363H	R	-	2	0	0	GPKOW	48859241	48859241	0.980000	0.34600	0.132000	0.22025	0.518000	0.34316	2.514000	0.45503	0.593000	0.29745	-0.217000	0.12591	CGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	0	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_015698			41	41		119	114	1		1	1		0	0	40	0		1	1	0	135	0	89	0	41	119
GPKOW	27238	broad.mit.edu	37	X	48973491	48973491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	269						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552																																						ENST00000156109.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(805-807)gTt>gGt		G patch domain and KOW motifs							107.0	82.0	90.0					X																	48973491		2203	4300	6503	SO:0001583	missense	27238	0	0					g.chrX:48973491A>C	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.806T>G	chrX.hg19:g.48973491A>C	ENSP00000156109:p.Val269Gly							p.V269G	NM_015698.4	NP_056513.2	0	1	1		Q92917	GPKOW_HUMAN		6	884	-			Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	1	1	hg19	c.806T>G	CCDS35251.1	1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862683	0.17178	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	-0.978	0.10279	5.25	-0.978	0.10279	KOW (1);	0.400861	0.27181	N	0.020549	T	0.10035	0.0246	N	0.00729	-1.24	0.22552	N	0.998993	B	0.10296	0.003	B	0.14023	0.01	T	0.35176	-0.9799	9	0.22109	T	0.4	-3.7939	10.7501	0.46205	0.3003:0.0:0.6997:0.0	.	269	Q92917	GPKOW_HUMAN	G	269	.	ENSP00000156109:V269G	V	-	2	0	0	GPKOW	48860435	48860435	0.046000	0.20272	0.004000	0.12327	0.988000	0.76386	0.474000	0.22148	-0.121000	0.11787	0.483000	0.47432	GTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.552	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	1	0	1		2	2	2	0		0	0	74		74	74	1	2.060000	-20.000000	1	0.170000	NM_015698			59	59		212	208	1		1	1		0	0	74	0		1	1	0	111	0	86	0	59	212
MAGIX	79917	broad.mit.edu	37	X	49022434	49022434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000412696.2	+	6	701	c.701G>T	c.(700-702)aGc>aTc	p.S234I	MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I|MAGIX_ENST00000376338.3_Missense_Mutation_p.S175I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234																	CCAGATCGCAGCCCAGATCCT	0.607																																						ENST00000412696.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0										c.(700-702)aGc>aTc		MAGI family member, X-linked							45.0	51.0	49.0					X																	49022434		2138	4216	6354	SO:0001583	missense	79917	0	0					g.chrX:49022434G>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.701G>T	chrX.hg19:g.49022434G>T	ENSP00000387928:p.Ser234Ile						MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000376338.3_Missense_Mutation_p.S175I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I|MAGIX_ENST00000498742.1_3'UTR	p.S234I	NM_024859.2	NP_079135.3	0	1	1		Q9H6Y5	MAGIX_HUMAN		6	701	+			A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	1	1	hg19	c.701G>T	CCDS48106.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	10.73|10.73|10.73	1.433669|1.433669|1.433669	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000458388|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342	.|.|T;T;T;T;T;T	.|.|0.34275	.|.|1.77;2.11;1.76;1.63;1.47;1.37	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	.|.|.	.|.|0.787278	.|.|0.10759	.|.|N	.|.|0.637462	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.12746|0.12746|0.12746	0.255|0.255|0.255	0.26823|0.26823|0.26823	N|N|N	0.968756|0.968756|0.968756	.|.|B;B;B;B;B	.|.|0.33022	.|.|0.394;0.132;0.208;0.208;0.15	.|.|B;B;B;B;B	.|.|0.30782	.|.|0.12;0.021;0.038;0.047;0.027	T|T|T	0.21280|0.21280|0.21280	-1.0250|-1.0250|-1.0250	5|5|10	.|.|0.21014	.|.|T	.|.|0.42	-0.3008|-0.3008|-0.3008	8.5271|8.5271|8.5271	0.33311|0.33311|0.33311	0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134	.|.|.	.|.|158;234;170;175;101	.|.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123	.|.|.;MAGIX_HUMAN;.;.;.	S|H|I	198|158|170;158;234;175;175;101	.|.|ENSP00000365517:S170I;ENSP00000403515:S158I;ENSP00000387928:S234I;ENSP00000365516:S175I;ENSP00000411713:S175I;ENSP00000400147:S101I	.|.|ENSP00000365516:S175I	A|Q|S	+|+|+	1|3|2	0|2|0	0|2|0	MAGIX|MAGIX|MAGIX	48909378|48909378|48909378	48909378|48909378|48909378	0.431000|0.431000|0.431000	0.25546|0.25546|0.25546	0.645000|0.645000|0.645000	0.29479|0.29479|0.29479	0.039000|0.039000|0.039000	0.13416|0.13416|0.13416	1.343000|1.343000|1.343000	0.33930|0.33930|0.33930	0.206000|0.206000|0.206000	0.20587|0.20587|0.20587	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GCC|CAG|AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.607	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_024859			61	61		234	230	1		1	1		0	0	58	0		1	9.951032e-01	0	24	0	10	0	61	234
CACNA1F	778	broad.mit.edu	37	X	49071930	49071930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1115	Dihydropyridine binding. {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)			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)	ATGAAGAACACTGAGATCTCC	0.507																																						ENST00000376265.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				85						c.(3343-3345)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)						117.0	89.0	98.0					X																	49071930		2203	4300	6503	SO:0001583	missense	778	0	0					g.chrX:49071930C>T	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.3343G>A	chrX.hg19:g.49071930C>T	ENSP00000365441:p.Val1115Met						CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	p.V1115M	NM_005183.2	NP_005174.2	0	1	1		O60840	CAC1F_HUMAN		28	3404	-			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	1	1	hg19	c.3343G>A	CCDS35253.1	1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875558	0.51695	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98684	-5.07;-5.07;-5.07	5.13	2.36	0.29203	5.13	2.36	0.29203	Ion transport (1);	0.429330	0.22789	N	0.055631	D	0.96210	0.8764	L	0.41079	1.255	0.27141	N	0.961644	B;P	0.43314	0.225;0.803	B;B	0.42062	0.048;0.374	D	0.92451	0.5970	10	0.72032	D	0.01	.	7.5806	0.27963	0.0:0.5361:0.0:0.4639	.	1104;1115	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1050;1104;1115	ENSP00000365427:V1050M;ENSP00000321618:V1104M;ENSP00000365441:V1115M	ENSP00000321618:V1104M	V	-	1	0	0	CACNA1F	48958874	48958874	0.971000	0.33674	0.597000	0.28824	0.952000	0.60782	1.968000	0.40500	0.391000	0.25143	0.597000	0.82753	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1		2	2	2	0		0	0	34		34	32	1	2.060000	-20.000000	1	0.170000	NM_005183			31	30		112	108	1		1			0	0	34	0		1	0	0	0	0	0	0	31	112
CACNA1F	778	broad.mit.edu	37	X	49079532	49079532	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	ENST00000376265.2	-	15	2035	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000376251.1_Silent_p.S593S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	658					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)			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)	GAAGCAGCAAGGATGCGATGG	0.522																																						ENST00000376265.2	1.000000	0.730000	1	9.900000e-01	0.990000	0.980591	0.990000	1.000000																										0				85						c.(1972-1974)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1F subunit	Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)						121.0	85.0	98.0					X																	49079532		2202	4298	6500	SO:0001819	synonymous_variant	778	0	0					g.chrX:49079532G>T	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.1974C>A	chrX.hg19:g.49079532G>T							CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000376251.1_Silent_p.S593S	p.S658S	NM_005183.2	NP_005174.2	0	1	1		O60840	CAC1F_HUMAN		15	2035	-			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	0	1	hg19	c.1974C>A	CCDS35253.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1		2	2	2	0		0	0	17		17	17	1	2.060000	-15.369320	1	0.170000	NM_005183			8	7		52	50	1		1	0		0	0	17	0		9.889317e-01	0	0	1	0	0	0	8	52
CACNA1F	778	broad.mit.edu	37	X	49088333	49088333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49088333G>A	ENST00000376265.2	-	2	143	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	28					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)			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)	CCGGGGCACAGCCCCCATTCG	0.622																																						ENST00000376265.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				85						c.(82-84)Ctg>Ttg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)						24.0	21.0	22.0					X																	49088333		2172	4249	6421	SO:0001819	synonymous_variant	778	0	0					g.chrX:49088333G>A	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.82C>T	chrX.hg19:g.49088333G>A							CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	p.L28L	NM_005183.2	NP_005174.2	0	1	1		O60840	CAC1F_HUMAN		2	143	-			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	1	1	hg19	c.82C>T	CCDS35253.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_005183			19	19		40	40	1		1			0	0	16	0		9.999978e-01	0	0	0	0	0	0	19	40
AKAP4	8852	broad.mit.edu	37	X	49957076	49957076	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	ENST00000376056.2	-	5	2411	c.2261A>C	c.(2260-2262)aAt>aCt	p.N754T	AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T					A kinase (PRKA) anchor protein 4											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)					AGAGCACTGATTATTGACAAT	0.478																																						ENST00000376056.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				41						c.(2260-2262)aAt>aCt		A kinase (PRKA) anchor protein 4							88.0	62.0	70.0					X																	49957076		2203	4300	6503	SO:0001583	missense	8852	0	0					g.chrX:49957076T>G	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.2261A>C	chrX.hg19:g.49957076T>G	ENSP00000365224:p.Asn754Thr						AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T	p.N754T			0	1	1					5	2411	-	Ovarian(276;0.236)			Missense_Mutation	SNP	ENST00000376056.2	1	1	hg19	c.2261A>C	CCDS14330.1	1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048370	0.36181	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.83	4.83	0.62350	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000023	T	0.35624	0.0938	M	0.77820	2.39	0.30941	N	0.725794	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.41716	-0.9493	9	.	.	.	-21.6637	9.9508	0.41638	0.0:0.0:0.0:1.0	.	763;380	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	754;380;763;754	ENSP00000365224:N754T;ENSP00000365226:N380T;ENSP00000351327:N763T;ENSP00000365232:N754T	.	N	-	2	0	0	AKAP4	49843816	49843816	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.898000	0.48672	1.613000	0.50231	0.430000	0.28490	AAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	1	0	1		2	2	2	0		0	0	26		26	25	1	2.060000	-20.000000	1	0.170000	NM_003886			21	21		60	56	1		1			0	0	26	0		9.999987e-01	0	0	0	0	0	0	21	60
AKAP4	8852	broad.mit.edu	37	X	49957477	49957477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.I629I					A kinase (PRKA) anchor protein 4											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)					GCATTAGAACGATGTTTGACA	0.458																																						ENST00000376056.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1858-1860)atC>atT		A kinase (PRKA) anchor protein 4							164.0	137.0	146.0					X																	49957477		2203	4300	6503	SO:0001819	synonymous_variant	8852	0	0					g.chrX:49957477G>A	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.1860C>T	chrX.hg19:g.49957477G>A							AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I	p.I620I			0	1	1					5	2010	-	Ovarian(276;0.236)			Silent	SNP	ENST00000376056.2	1	1	hg19	c.1860C>T	CCDS14330.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	1	0	1		2	2	2	0		0	0	169		169	169	1	2.060000	-20.000000	1	0.170000	NM_003886			162	157		617	604	0		1			0	0	169	0		1	0	0	0	0	0	0	162	617
DGKK	139189	broad.mit.edu	37	X	50144087	50144087	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	ENST00000376025.2	-	0	1418							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGAGCGATGGCTTCTGAAGC	0.473																																						ENST00000376025.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999887	0.990000	1.000000																										0				45								diacylglycerol kinase, kappa							77.0	67.0	70.0					X																	50144087		1957	4138	6095			139189	0	0					g.chrX:50144087G>A	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			chrX.hg19:g.50144087G>A											0	1	1		Q5KSL6	DGKK_HUMAN		0	1418	-	Ovarian(276;0.236)		B2RP91	RNA	SNP	ENST00000376025.2	1	1	hg19			1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	0	0		2	2	2	0		0	0	14		14	14	1	2.060000	-20.000000	1	0.170000	NM_001013742			14	14		42	42	0		1			0	0	14	0		9.998834e-01	0	0	0	0	0	0	14	42
DGKK	139189	broad.mit.edu	37	X	50144126	50144126	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	ENST00000376025.2	-	0	1379							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTCCTACAGTCATCATGCA	0.458																																						ENST00000376025.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999942	0.990000	1.000000																										0				45								diacylglycerol kinase, kappa							60.0	50.0	53.0					X																	50144126		1919	4123	6042			139189	0	0					g.chrX:50144126G>T	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			chrX.hg19:g.50144126G>T											0	1	1		Q5KSL6	DGKK_HUMAN		0	1379	-	Ovarian(276;0.236)		B2RP91	RNA	SNP	ENST00000376025.2	1	1	hg19			1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	0	0		2	2	2	0		0	0	13		13	13	1	2.060000	-20.000000	1	0.170000	NM_001013742			14	14		35	35	0		1			0	0	13	0		9.998981e-01	0	0	0	0	0	0	14	35
SHROOM4	57477	broad.mit.edu	37	X	50350432	50350432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000289292.7	-	6	3993	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1237	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACCAATGCCATAGTAGCA	0.507																																						ENST00000289292.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				52						c.(3709-3711)gGc>gAc		shroom family member 4							69.0	59.0	62.0					X																	50350432		2203	4300	6503	SO:0001583	missense	57477	0	0					g.chrX:50350432C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3710G>A	chrX.hg19:g.50350432C>T	ENSP00000289292:p.Gly1237Asp						SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D	p.G1237D			0	1	1		Q9ULL8	SHRM4_HUMAN		6	3993	-	Ovarian(276;0.236)		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	1	1	hg19	c.3710G>A	CCDS35277.1	1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393881	0.42410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28666	1.6;1.6;1.6	4.39	4.39	0.52855	4.39	4.39	0.52855	Apx/shroom, ASD2 (2);	0.202088	0.33980	N	0.004366	T	0.36193	0.0958	N	0.22421	0.69	0.39622	D	0.970049	D	0.89917	1.0	D	0.97110	1.0	T	0.06197	-1.0840	10	0.18276	T	0.48	.	11.2573	0.49060	0.0:1.0:0.0:0.0	.	1237	Q9ULL8	SHRM4_HUMAN	D	1237;1237;1121	ENSP00000289292:G1237D;ENSP00000365188:G1237D;ENSP00000421450:G1121D	ENSP00000289292:G1237D	G	-	2	0	0	SHROOM4	50367172	50367172	0.967000	0.33354	0.959000	0.39883	0.982000	0.71751	2.926000	0.48892	2.427000	0.82271	0.513000	0.50165	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1		2	2	2	0		0	0	69		69	69	1	2.060000	-20.000000	1	0.170000	NM_020717			40	40		227	226	1		1	0		0	0	69	0		1	3.500663e-01	0	0	0	8	0	40	227
SHROOM4	57477	broad.mit.edu	37	X	50376791	50376791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000289292.7	-	4	2565	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	761					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCCTCCCCAGCTTGAGCAGT	0.478																																						ENST00000289292.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2281-2283)gCt>gAt		shroom family member 4							55.0	54.0	54.0					X																	50376791		2203	4300	6503	SO:0001583	missense	57477	0	0					g.chrX:50376791G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2282C>A	chrX.hg19:g.50376791G>T	ENSP00000289292:p.Ala761Asp						SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D	p.A761D			0	1	1		Q9ULL8	SHRM4_HUMAN		4	2565	-	Ovarian(276;0.236)		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	1	1	hg19	c.2282C>A	CCDS35277.1	1	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210131	0.22289	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88201	-2.35;-2.35;-2.35	5.74	4.88	0.63580	5.74	4.88	0.63580	.	0.306844	0.30556	N	0.009371	T	0.79221	0.4409	L	0.32530	0.975	0.37514	D	0.917255	P	0.42409	0.779	B	0.32289	0.143	T	0.79596	-0.1738	10	0.44086	T	0.13	.	8.4126	0.32653	0.0831:0.0:0.7634:0.1535	.	761	Q9ULL8	SHRM4_HUMAN	D	761;761;645	ENSP00000289292:A761D;ENSP00000365188:A761D;ENSP00000421450:A645D	ENSP00000289292:A761D	A	-	2	0	0	SHROOM4	50393531	50393531	0.450000	0.25697	0.993000	0.49108	0.783000	0.44284	1.445000	0.35079	1.182000	0.42928	0.600000	0.82982	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_020717			89	89		303	298	1		1	0		0	0	77	0		1	8.289632e-01	0	0	0	13	0	89	303
SHROOM4	57477	broad.mit.edu	37	X	50377526	50377526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50377526C>T	ENST00000289292.7	-	4	1830	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N|SHROOM4_ENST00000376020.2_Missense_Mutation_p.S516N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	516					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCTGCTCTGCTTGTTCTGTT	0.532																																						ENST00000289292.7	0.580000	0.200000	4.700000e-01	2.700000e-01	0.360000	0.379538	0.360000	0.360000																										0				52						c.(1546-1548)aGc>aAc		shroom family member 4							66.0	53.0	57.0					X																	50377526		2203	4300	6503	SO:0001583	missense	57477	0	0					g.chrX:50377526C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1547G>A	chrX.hg19:g.50377526C>T	ENSP00000289292:p.Ser516Asn						SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N|SHROOM4_ENST00000376020.2_Missense_Mutation_p.S516N	p.S516N			0	1	1		Q9ULL8	SHRM4_HUMAN		4	1830	-	Ovarian(276;0.236)		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	1	1	hg19	c.1547G>A	CCDS35277.1	0	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626808	0.00813	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15256	2.82;2.82;2.44	4.46	0.495	0.16890	4.46	0.495	0.16890	.	0.850755	0.10644	N	0.650629	T	0.12561	0.0305	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	10	0.20519	T	0.43	.	4.3673	0.11230	0.1676:0.5467:0.0:0.2856	.	516	Q9ULL8	SHRM4_HUMAN	N	516;516;400	ENSP00000289292:S516N;ENSP00000365188:S516N;ENSP00000421450:S400N	ENSP00000289292:S516N	S	-	2	0	0	SHROOM4	50394266	50394266	0.000000	0.05858	0.019000	0.16419	0.141000	0.21300	-0.007000	0.12810	-0.044000	0.13491	0.600000	0.82982	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	0	1		2	2	2	0		0	0	71		71	69	1	2.060000	-12.357670	1	0.170000	NM_020717			13	13		414	412	0		1	0		0	0	71	0		9.995342e-01	3.447751e-02	0	0	0	9	0	13	414
BMP15	9210	broad.mit.edu	37	X	50659581	50659581	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	385					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGAGGGTATGATTGCTGAGTC	0.443																																						ENST00000252677.3	0.570000	0.230000	4.800000e-01	2.900000e-01	0.370000	0.391503	0.370000	0.380000																										0				26						c.(1153-1155)Att>Gtt		bone morphogenetic protein 15							108.0	99.0	102.0					X																	50659581		2203	4299	6502	SO:0001583	missense	9210	0	0					g.chrX:50659581A>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1153A>G	chrX.hg19:g.50659581A>G	ENSP00000252677:p.Ile385Val							p.I385V	NM_005448.2	NP_005439.2	0	1	1		O95972	BMP15_HUMAN		2	1153	+	Ovarian(276;0.236)		Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	1	1	hg19	c.1153A>G	CCDS14334.1	0	.	.	.	.	.	.	.	.	.	.	a	7.189	0.591080	0.13812	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.58	4.43	0.53597	5.58	4.43	0.53597	Transforming growth factor-beta, C-terminal (3);	0.231421	0.45361	D	0.000375	T	0.62696	0.2449	N	0.12663	0.25	0.47441	D	0.999426	B	0.31769	0.339	B	0.32624	0.149	T	0.61787	-0.6991	10	0.02654	T	1	.	8.0656	0.30659	0.9042:0.0:0.0958:0.0	.	385	O95972	BMP15_HUMAN	V	385	ENSP00000252677:I385V	ENSP00000252677:I385V	I	+	1	0	0	BMP15	50676321	50676321	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.689000	0.37700	1.876000	0.54355	0.481000	0.45027	ATT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	0	0	1		2	2	2	0		0	0	131		131	131	1	2.060000	-16.079750	1	0.170000	NM_005448			18	18		546	536	0		1			0	0	131	0		9.999792e-01	0	0	0	0	0	0	18	546
NUDT11	55190	broad.mit.edu	37	X	51239242	51239242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51239242G>A	ENST00000375992.3	-	1	206	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	19	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CACGCCGCCCGCTTCTTGAAC	0.672										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	ENST00000375992.3	1.000000	0.260000	8.200000e-01	4.000000e-01	0.590000	0.616323	0.590000	1.000000																										0				9						c.(55-57)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 11							22.0	21.0	21.0					X																	51239242		2201	4298	6499	SO:0001583	missense	55190	0	0					g.chrX:51239242G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.55C>T	chrX.hg19:g.51239242G>A	ENSP00000365160:p.Arg19Trp		HNSCC(48;0.14)					p.R19W	NM_018159.3	NP_060629.2	0	1	1		Q96G61	NUD11_HUMAN		1	206	-	Ovarian(276;0.236)		Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	0	1	hg19	c.55C>T	CCDS43952.1	0	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532862	0.64972	.	.	ENSG00000196368	ENST00000375992	T	0.43688	0.94	3.14	2.25	0.28309	3.14	2.25	0.28309	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.93420	3.415	0.46260	D	0.998958	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	9	0.59425	D	0.04	-21.8399	9.3444	0.38100	0.0:0.2171:0.7829:0.0	.	19	Q96G61	NUD11_HUMAN	W	19	ENSP00000365160:R19W	ENSP00000365160:R19W	R	-	1	2	2	NUDT11	51255982	51255982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.615000	0.36922	0.502000	0.28037	0.544000	0.68410	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1	1	0	1		2	2	2	0		0	0	26		26	26	1	2.060000	-10.199480	1	0.170000				7	6		137	126	0		1	0		0	0	26	0		9.747348e-01	3.354767e-03	0	0	0	2	0	7	137
SSX7	280658	broad.mit.edu	37	X	52681355	52681355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	76	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507																																						ENST00000298181.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(226-228)gCc>gTc		synovial sarcoma, X breakpoint 7							172.0	153.0	159.0					X																	52681355		2203	4300	6503	SO:0001583	missense	280658	0	0					g.chrX:52681355G>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.227C>T	chrX.hg19:g.52681355G>A	ENSP00000298181:p.Ala76Val							p.A76V	NM_173358.2	NP_775494.1	0	1	1		Q7RTT5	SSX7_HUMAN		4	385	-	Ovarian(276;0.236)			Missense_Mutation	SNP	ENST00000298181.5	1	1	hg19	c.227C>T	CCDS14343.1	1	.	.	.	.	.	.	.	.	.	.	N	4.896	0.166444	0.09339	.	.	ENSG00000187754	ENST00000298181	T	0.10005	2.92	0.725	-0.332	0.12675	0.725	-0.332	0.12675	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.551260	0.03863	N	0.274301	T	0.10165	0.0249	L	0.41573	1.285	0.09310	N	1	B	0.19331	0.035	B	0.23852	0.049	T	0.36578	-0.9742	9	0.36615	T	0.2	.	.	.	.	.	76	Q7RTT5	SSX7_HUMAN	V	76	ENSP00000298181:A76V	ENSP00000298181:A76V	A	-	2	0	0	SSX7	52698080	52698080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	-0.196000	0.10366	0.409000	0.27619	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	1	0	1		2	2	2	0		0	0	219		219	217	1	2.060000	-20.000000	1	0.170000	NM_173358			155	152		525	505	1		1			0	0	219	0		1	0	0	0	0	0	0	155	525
GPR173	54328	broad.mit.edu	37	X	53106692	53106692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592																																						ENST00000332582.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(889-891)Ctc>Atc		G protein-coupled receptor 173							120.0	73.0	89.0					X																	53106692		2203	4300	6503	SO:0001583	missense	54328	0	0					g.chrX:53106692C>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.889C>A	chrX.hg19:g.53106692C>A	ENSP00000331600:p.Leu297Ile							p.L297I	NM_018969.5	NP_061842.1	0	1	1		Q9NS66	GP173_HUMAN		2	1380	+			B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	1	1	hg19	c.889C>A	CCDS14349.1	1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713333	0.30413	.	.	ENSG00000184194	ENST00000332582	T	0.37411	1.2	5.03	4.1	0.47936	5.03	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.155901	0.41823	D	0.000820	T	0.29588	0.0738	L	0.46157	1.445	0.38960	D	0.958531	B	0.10296	0.003	B	0.18871	0.023	T	0.11743	-1.0575	10	0.23891	T	0.37	-11.5774	10.308	0.43691	0.0:0.6608:0.3392:0.0	.	297	Q9NS66	GP173_HUMAN	I	297	ENSP00000331600:L297I	ENSP00000331600:L297I	L	+	1	0	0	GPR173	53123417	53123417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.113000	0.41902	2.094000	0.63399	0.529000	0.55759	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.592	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	1	0	1		2	2	2	0		0	0	33		33	32	1	2.060000	-20.000000	1	0.170000	NM_018969			42	41		148	146	1		1	1		0	0	33	0		1	1.294869e-01	0	2	0	1	0	42	148
KDM5C	8242	broad.mit.edu	37	X	53245326	53245326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000375401.3	-	6	1243	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	237					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCCATAGATCTGTAGCTTTT	0.532			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000375401.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		X	Xp11.22-p11.21	Xp11.22-p11.21	8242	N, F, S	lysine (K)-specific demethylase 5C (JARID1C)				E	E			clear cell renal carcinoma		0				82						c.(709-711)caG>caT		lysine (K)-specific demethylase 5C							113.0	101.0	105.0					X																	53245326		2203	4300	6503	SO:0001583	missense	8242	0	0					g.chrX:53245326C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.711G>T	chrX.hg19:g.53245326C>A	ENSP00000364550:p.Gln237His						KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H	p.Q237H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	0	1	1		P41229	KDM5C_HUMAN		6	1243	-			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	1	1	hg19	c.711G>T	CCDS14351.1	1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380961	0.61845	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87966	-2.32;-2.0;-2.01;-2.0;-2.16	4.86	3.99	0.46301	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.47659	D	0.999484	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.984	D	0.92310	0.5857	10	0.72032	D	0.01	-24.0144	10.1738	0.42927	0.0:0.8985:0.0:0.1015	.	170;236;237	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	170;237;236;237;196	ENSP00000445176:Q170H;ENSP00000364550:Q237H;ENSP00000385394:Q236H;ENSP00000364528:Q237H;ENSP00000364532:Q196H	ENSP00000364528:Q237H	Q	-	3	2	2	KDM5C	53262051	53262051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.989000	0.56958	0.841000	0.35020	0.529000	0.55759	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000	NM_004187			107	106		365	360	1		1	1		0	0	111	0		1	1	0	37	0	49	0	107	365
SMC1A	8243	broad.mit.edu	37	X	53439881	53439881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	275					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507																																						ENST00000322213.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				49						c.(823-825)Cgg>Tgg		structural maintenance of chromosomes 1A							156.0	129.0	139.0					X																	53439881		2203	4300	6503	SO:0001583	missense	8243	1	121376	25				g.chrX:53439881G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.823C>T	chrX.hg19:g.53439881G>A	ENSP00000323421:p.Arg275Trp						SMC1A_ENST00000375340.6_Intron	p.R275W	NM_006306.2	NP_006297.2	0	1	1		Q14683	SMC1A_HUMAN		5	950	-			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	1	1	hg19	c.823C>T	CCDS14352.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726948	0.48833	.	.	ENSG00000072501	ENST00000322213	T	0.78924	-1.22	4.4	4.4	0.53042	4.4	4.4	0.53042	RecF/RecN/SMC (1);	0.124433	0.50627	D	0.000101	D	0.88926	0.6570	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.984	D	0.90213	0.4266	10	0.87932	D	0	.	9.5439	0.39268	0.0:0.0:0.6544:0.3456	.	253;275;275	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	W	275	ENSP00000323421:R275W	ENSP00000323421:R275W	R	-	1	2	2	SMC1A	53456606	53456606	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.262000	0.43285	1.941000	0.56285	0.436000	0.28706	CGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	1	0	1		2	2	2	0		0	0	29		29	29	1	2.060000	-20.000000	1	0.170000	NM_006306			38	36		113	109	1		1	1		0	0	29	0		1	1	0	75	0	88	0	38	113
RIBC1	158787	broad.mit.edu	37	X	53456828	53456828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	HSD17B10_ENST00000495986.1_5'Flank|RP3-339A18.6_ENST00000418049.1_RNA|RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577																																						ENST00000375327.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				2						c.(571-573)Gcc>Acc		RIB43A domain with coiled-coils 1							74.0	57.0	63.0					X																	53456828		2203	4300	6503	SO:0001583	missense	158787	0	0					g.chrX:53456828G>A	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.571G>A	chrX.hg19:g.53456828G>A	ENSP00000364476:p.Ala191Thr						HSD17B10_ENST00000495986.1_5'Flank|RP3-339A18.6_ENST00000418049.1_RNA|RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	p.A191T	NM_001031745.2	NP_001026915.1	0	1	1		Q8N443	RIBC1_HUMAN		6	724	+			B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	1	1	hg19	c.571G>A	CCDS35299.1	1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610732	0.46527	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.23348	1.91;1.91	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.265038	0.36482	N	0.002566	T	0.30008	0.0751	M	0.69823	2.125	0.09310	N	0.999999	D;P	0.53151	0.958;0.835	B;B	0.41466	0.358;0.147	T	0.37596	-0.9699	10	0.23302	T	0.38	-2.4089	15.48	0.75517	0.0:0.0:1.0:0.0	.	76;191	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	76;191	ENSP00000401463:A76T;ENSP00000364476:A191T	ENSP00000364476:A191T	A	+	1	0	0	RIBC1	53473553	53473553	0.919000	0.31177	0.454000	0.27019	0.407000	0.30961	4.732000	0.62029	2.364000	0.80123	0.384000	0.25694	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	0	0	1		2	2	2	0		0	0	54		54	53	1	2.060000	-20.000000	1	0.170000	NM_144968			45	45		144	139	1		1	1		0	0	54	0		1	6.711391e-01	0	6	0	3	0	45	144
HUWE1	10075	broad.mit.edu	37	X	53575044	53575044	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3409					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)			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						TGGCACTGACTTCACGGAGTT	0.547																																						ENST00000342160.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(10225-10227)aAg>aTg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65.0	51.0	56.0					X																	53575044		2203	4299	6502	SO:0001583	missense	10075	0	0					g.chrX:53575044T>A	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.10226A>T	chrX.hg19:g.53575044T>A	ENSP00000340648:p.Lys3409Met						HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M	p.K3409M			0	1	1		Q7Z6Z7	HUWE1_HUMAN		67	10683	-			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	1	1	hg19	c.10226A>T	CCDS35301.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128357|2.128357	0.37533|0.37533	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.436137	.|0.19696	.|N	.|0.108158	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.984;0.993	T|T	0.62774|0.62774	-0.6783|-0.6783	5|10	.|0.72032	.|D	.|0.01	.|.	13.5123|13.5123	0.61519|0.61519	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409;3393	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|M	2442;246|3409	.|ENSP00000340648:K3409M;ENSP00000262854:K3409M	.|ENSP00000262854:K3409M	E|K	-|-	3|2	2|0	2|0	HUWE1|HUWE1	53591769|53591769	53591769|53591769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.307000|5.307000	0.65762|0.65762	1.834000|1.834000	0.53371|0.53371	0.425000|0.425000	0.28330|0.28330	GAA|AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1		2	2	2	0		0	0	24		24	24	1	2.060000	-20.000000	1	0.170000	XM_497119			29	29		70	70	1		1	1	0	0	0	24	0		1	1	0	101	0	90	1	29	70
HUWE1	10075	broad.mit.edu	37	X	53579602	53579602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2916					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)			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						TGCTTACCTGTCCTCAGGTGG	0.542																																						ENST00000342160.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(8746-8748)gAc>gGc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							73.0	75.0	74.0					X																	53579602		2201	4298	6499	SO:0001583	missense	10075	0	0					g.chrX:53579602T>C	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.8747A>G	chrX.hg19:g.53579602T>C	ENSP00000340648:p.Asp2916Gly						HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G	p.D2916G			0	1	1		Q7Z6Z7	HUWE1_HUMAN		61	9204	-			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	1	1	hg19	c.8747A>G	CCDS35301.1	1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484049	0.26598	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.451805	0.25774	N	0.028384	T	0.20981	0.0505	N	0.14661	0.345	0.36000	D	0.837342	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	9.0556	0.36403	0.0:0.0833:0.0:0.9167	.	2916;2916	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2916	ENSP00000340648:D2916G;ENSP00000262854:D2916G	ENSP00000262854:D2916G	D	-	2	0	0	HUWE1	53596327	53596327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.535000	0.45685	2.058000	0.61347	0.486000	0.48141	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1		2	2	2	0		0	0	130		130	129	1	2.060000	-20.000000	1	0.170000	XM_497119			144	141		438	430	1		1	1		0	0	130	0		1	1	0	66	0	57	0	144	438
HUWE1	10075	broad.mit.edu	37	X	53631738	53631738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	852					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)			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						AGGGAGGAGAGGATGGAGTCC	0.493																																						ENST00000342160.3	0.680000	0.160000	5.200000e-01	2.500000e-01	0.370000	0.395397	0.370000	0.350000																										0				153						c.(2554-2556)Ctc>Ttc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65.0	63.0	64.0					X																	53631738		2203	4300	6503	SO:0001583	missense	10075	0	0					g.chrX:53631738G>A	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.2554C>T	chrX.hg19:g.53631738G>A	ENSP00000340648:p.Leu852Phe						HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F	p.L852F			0	1	1		Q7Z6Z7	HUWE1_HUMAN		25	3011	-			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	0	1	hg19	c.2554C>T	CCDS35301.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.88;0.88;0.58	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.197114	0.33534	N	0.004814	T	0.71239	0.3316	L	0.61218	1.895	0.51767	D	0.999938	D	0.89917	1.0	D	0.76071	0.987	T	0.72997	-0.4121	10	0.72032	D	0.01	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	852	Q7Z6Z7	HUWE1_HUMAN	F	852	ENSP00000340648:L852F;ENSP00000262854:L852F;ENSP00000218328:L852F	ENSP00000218328:L852F	L	-	1	0	0	HUWE1	53648463	53648463	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.910000	0.63321	2.489000	0.83994	0.600000	0.82982	CTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-3.721945	1	0.170000	XM_497119			7	8		224	223	1		1	1		0	0	60	0		9.810785e-01	7.074688e-01	0	15	0	63	0	7	224
HUWE1	10075	broad.mit.edu	37	X	53674485	53674485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000218328.8_Silent_p.D59D|HUWE1_ENST00000262854.6_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	59					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)			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						CATCGAAGCGGTCCAACAGGT	0.483																																						ENST00000342160.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				153						c.(175-177)gaC>gaT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							173.0	155.0	161.0					X																	53674485		2203	4300	6503	SO:0001819	synonymous_variant	10075	0	0					g.chrX:53674485G>A	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.177C>T	chrX.hg19:g.53674485G>A							HUWE1_ENST00000218328.8_Silent_p.D59D|HUWE1_ENST00000262854.6_Silent_p.D59D	p.D59D			0	1	1		Q7Z6Z7	HUWE1_HUMAN		5	634	-			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	1	1	hg19	c.177C>T	CCDS35301.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1		2	2	2	0		0	0	185		185	183	1	2.060000	-20.000000	1	0.170000	XM_497119			128	125		422	413	1		1	1		0	0	185	0		1	9.999924e-01	0	27	0	31	0	128	422
FAM120C	54954	broad.mit.edu	37	X	54185844	54185844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	302							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCTTCAGGCCCAGCTGCTT	0.468																																						ENST00000375180.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(904-906)gGc>gAc		family with sequence similarity 120C							106.0	85.0	92.0					X																	54185844		2203	4300	6503	SO:0001583	missense	54954	0	0					g.chrX:54185844C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.905G>A	chrX.hg19:g.54185844C>T	ENSP00000364324:p.Gly302Asp						FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	p.G302D	NM_017848.4	NP_060318.3	0	1	1		Q9NX05	F120C_HUMAN		2	961	-			B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	1	1	hg19	c.905G>A	CCDS14356.1	1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627179	0.28978	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.40476	1.03;1.03	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.20986	0.625	0.80722	D	1	B;B	0.31879	0.159;0.344	B;B	0.36666	0.23;0.217	T	0.11743	-1.0575	10	0.25751	T	0.34	-5.9882	16.37	0.83353	0.0:1.0:0.0:0.0	.	302;302	F8W881;Q9NX05	.;F120C_HUMAN	D	302	ENSP00000364324:G302D;ENSP00000329896:G302D	ENSP00000329896:G302D	G	-	2	0	0	FAM120C	54202569	54202569	0.852000	0.29690	0.995000	0.50966	0.831000	0.47069	1.193000	0.32162	2.118000	0.64928	0.502000	0.49764	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.468	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	1	0	1		2	2	2	0		0	0	84		84	83	1	2.060000	-20.000000	1	0.170000	NM_017848			67	63		229	226	1		1	0		0	0	84	0		1	4.130707e-01	0	0	0	6	0	67	229
FGD1	2245	broad.mit.edu	37	X	54473856	54473856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	823	PH 2. {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)			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						GCTGCAGATGACGCTGTTCTC	0.532																																						ENST00000375135.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				39						c.(2467-2469)gTc>gCc		FYVE, RhoGEF and PH domain containing 1							89.0	52.0	65.0					X																	54473856		2203	4299	6502	SO:0001583	missense	2245	0	0					g.chrX:54473856A>G	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.2468T>C	chrX.hg19:g.54473856A>G	ENSP00000364277:p.Val823Ala							p.V823A	NM_004463.2	NP_004454.2	0	1	1		P98174	FGD1_HUMAN		17	3201	-			Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	1	1	hg19	c.2468T>C	CCDS14359.1	1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625943	0.66901	.	.	ENSG00000102302	ENST00000375135	T	0.12879	2.64	5.33	5.33	0.75918	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.325727	0.22324	N	0.061559	T	0.15219	0.0367	L	0.41236	1.265	0.40850	D	0.983745	B	0.22983	0.078	B	0.29440	0.102	T	0.03514	-1.1029	10	0.66056	D	0.02	-5.9167	13.3064	0.60355	1.0:0.0:0.0:0.0	.	823	P98174	FGD1_HUMAN	A	823	ENSP00000364277:V823A	ENSP00000364277:V823A	V	-	2	0	0	FGD1	54490581	54490581	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	8.526000	0.90588	1.784000	0.52394	0.430000	0.28490	GTC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	0	0	1		12	7	2	1		1	1	32		32	32	1	2.060000	-20.000000	1	0.170000	NM_004463			25	25		84	83	1		1	1		1	0	32	0		9.935631e-01	9.355211e-01	0	14	0	36	0	25	84
FGD1	2245	broad.mit.edu	37	X	54496518	54496518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	344					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.D344D(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						cctcctcctcgtcgtcctcct	0.632																																						ENST00000375135.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.D344D(1)	large_intestine(1)	39						c.(1030-1032)gaC>gaT		FYVE, RhoGEF and PH domain containing 1							34.0	31.0	32.0					X																	54496518		2203	4300	6503	SO:0001819	synonymous_variant	2245	2	121400	29				g.chrX:54496518G>A	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.1032C>T	chrX.hg19:g.54496518G>A								p.D344D	NM_004463.2	NP_004454.2	0	1	1		P98174	FGD1_HUMAN		4	1765	-			Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	1	0	hg19	c.1032C>T	CCDS14359.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	1	0	1		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_004463			36	35		103	97	1		1	1		0	0	38	0		1	8.816805e-01	0	2	0	11	0	36	103
FGD1	2245	broad.mit.edu	37	X	54496845	54496845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	ENST00000375135.3	-	4	1438	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	235	Pro-rich.				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)			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						GGGGACCTGGGCTGGGGCCAG	0.642																																						ENST00000375135.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999981	0.990000	1.000000																										0				39						c.(703-705)agC>agT		FYVE, RhoGEF and PH domain containing 1							28.0	34.0	32.0					X																	54496845		2197	4286	6483	SO:0001819	synonymous_variant	2245	0	0					g.chrX:54496845G>A	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.705C>T	chrX.hg19:g.54496845G>A								p.S235S	NM_004463.2	NP_004454.2	0	1	1		P98174	FGD1_HUMAN		4	1438	-			Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	1	1	hg19	c.705C>T	CCDS14359.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.642	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	1	0	1		2	2	2	0		0	0	22		22	22	1	2.060000	-20.000000	1	0.170000	NM_004463			22	21		86	83	0		1	1		0	0	22	0		9.999992e-01	9.828642e-01	0	3	0	26	0	22	86
MAGED2	10916	broad.mit.edu	37	X	54837363	54837363	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375060.1_Intron			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	216	Arg-rich.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGCCCGCAGGGCTTCAAGG	0.602																																						ENST00000375068.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.998320	0.990000	1.000000																										0				26						c.(646-648)aGg>aTg		melanoma antigen family D, 2							28.0	27.0	27.0					X																	54837363		2203	4300	6503	SO:0001583	missense	10916	0	0					g.chrX:54837363G>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.647G>T	chrX.hg19:g.54837363G>T	ENSP00000364209:p.Arg216Met						MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M	p.R216M			0	1	1		Q9UNF1	MAGD2_HUMAN		4	880	+			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	0	1	hg19	c.647G>T	CCDS14362.1	1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100578	0.56183	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.73152	3.76;3.76;3.69;-0.72;3.76;3.76;3.76	3.85	3.85	0.44370	3.85	3.85	0.44370	.	0.000000	0.48286	D	0.000184	T	0.64735	0.2625	N	0.08118	0	0.27613	N	0.948598	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.55761	-0.8090	10	0.30854	T	0.27	.	8.6097	0.33795	0.0:0.2301:0.7699:0.0	.	198;216	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	M	216;216;160;198;216;216;216	ENSP00000364209:R216M;ENSP00000364193:R216M;ENSP00000336962:R160M;ENSP00000340290:R198M;ENSP00000218439:R216M;ENSP00000364198:R216M;ENSP00000379526:R216M	ENSP00000218439:R216M	R	+	2	0	0	MAGED2	54854088	54854088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_014599			15	15		82	80	1		1	1		0	0	21	0		9.999028e-01	1	0	200	0	387	0	15	82
TRO	7216	broad.mit.edu	37	X	54954201	54954201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000420798.2_Missense_Mutation_p.K153T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	622	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAGTCCTCAAGTTTGCATGC	0.537																																						ENST00000173898.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.999978	0.990000	1.000000																										0				37						c.(1864-1866)aAg>aCg		trophinin							57.0	54.0	55.0					X																	54954201		2200	4299	6499	SO:0001583	missense	7216	0	0					g.chrX:54954201A>C	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1865A>C	chrX.hg19:g.54954201A>C	ENSP00000173898:p.Lys622Thr						TRO_ENST00000420798.2_Missense_Mutation_p.K153T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|SNORA11_ENST00000408823.1_RNA	p.K622T	NM_001039705.2	NP_001034794.1	0	1	1		Q12816	TROP_HUMAN		11	1977	+			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	1	1	hg19	c.1865A>C	CCDS43959.1	1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706036	0.48412	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06849	3.94;3.7;3.7;3.55;3.25;3.59	3.1	1.94	0.25998	3.1	1.94	0.25998	.	.	.	.	.	T	0.18383	0.0441	L	0.49513	1.565	0.30932	N	0.726759	D;P;P;D	0.76494	0.999;0.938;0.573;0.998	D;P;B;D	0.75484	0.958;0.521;0.376;0.986	T	0.08432	-1.0722	9	0.87932	D	0	.	5.5264	0.16960	0.8559:0.0:0.1441:0.0	.	225;225;622;622	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	T	622;622;622;225;225;153;225	ENSP00000173898:K622T;ENSP00000318278:K622T;ENSP00000364162:K622T;ENSP00000382641:K225T;ENSP00000405126:K153T;ENSP00000364181:K225T	ENSP00000173898:K622T	K	+	2	0	0	TRO	54970926	54970926	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	1.126000	0.31344	0.443000	0.26582	0.417000	0.27973	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_016157			28	26		136	135	1		1	0		0	0	44	0		1	5.374320e-01	0	0	0	10	0	28	136
TRO	7216	broad.mit.edu	37	X	54955207	54955207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D215N	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	684					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ggATGACATGGATATCGACTG	0.537																																						ENST00000173898.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(2050-2052)Gat>Aat		trophinin							54.0	58.0	57.0					X																	54955207		2106	4238	6344	SO:0001583	missense	7216	0	0					g.chrX:54955207G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2050G>A	chrX.hg19:g.54955207G>A	ENSP00000173898:p.Asp684Asn						TRO_ENST00000420798.2_Missense_Mutation_p.D215N|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA	p.D684N	NM_001039705.2	NP_001034794.1	0	1	1		Q12816	TROP_HUMAN		12	2162	+			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	1	1	hg19	c.2050G>A	CCDS43959.1	1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164907	0.38217	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10192	3.49;2.9;3.2	2.95	2.95	0.34219	2.95	2.95	0.34219	.	.	.	.	.	T	0.13457	0.0326	L	0.36672	1.1	0.31987	N	0.60514	D;D	0.65815	0.995;0.995	P;P	0.53185	0.72;0.72	T	0.10965	-1.0607	9	0.87932	D	0	.	5.2406	0.15469	0.1614:0.0:0.8386:0.0	.	287;684	B1AKE9;Q12816	.;TROP_HUMAN	N	684;215;287	ENSP00000173898:D684N;ENSP00000405126:D215N;ENSP00000364181:D287N	ENSP00000173898:D684N	D	+	1	0	0	TRO	54971932	54971932	0.813000	0.29090	0.994000	0.49952	0.847000	0.48162	1.099000	0.31013	1.744000	0.51775	0.544000	0.68410	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1		2	2	2	0		0	0	30		30	29	1	2.060000	-20.000000	1	0.170000	NM_016157			38	35		141	138	1		1	0		0	0	30	0		1	6.620572e-01	0	0	0	10	0	38	141
TRO	7216	broad.mit.edu	37	X	54957437	54957437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G958D	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1427	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGCCTGTGGCTTCTCGTAT	0.557																																						ENST00000173898.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(4279-4281)gGc>gAc		trophinin							27.0	28.0	27.0					X																	54957437		1961	4140	6101	SO:0001583	missense	7216	0	0					g.chrX:54957437G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4280G>A	chrX.hg19:g.54957437G>A	ENSP00000173898:p.Gly1427Asp						TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000319167.8_Intron	p.G1427D	NM_001039705.2	NP_001034794.1	0	1	1		Q12816	TROP_HUMAN		12	4392	+			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	1	1	hg19	c.4280G>A	CCDS43959.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855585	0.51376	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.27104	2.55;1.69;3.06	3.18	2.31	0.28768	3.18	2.31	0.28768	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.26502	N	0.974758	D;D	0.60160	0.987;0.987	P;P	0.47864	0.559;0.559	T	0.08146	-1.0736	9	0.87932	D	0	.	7.5398	0.27731	0.138:0.0:0.862:0.0	.	1030;1427	B1AKE9;Q12816	.;TROP_HUMAN	D	1427;353;958;1030	ENSP00000173898:G1427D;ENSP00000405126:G958D;ENSP00000364181:G1030D	ENSP00000173898:G1427D	G	+	2	0	0	TRO	54974162	54974162	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.930000	0.56522	0.744000	0.32741	0.600000	0.82982	GGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1		2	2	2	0		0	0	25		25	22	1	2.060000	-20.000000	1	0.170000	NM_016157			42	41		140	136	1		1	0		0	0	25	0		1	8.636518e-01	0	0	0	14	0	42	140
PFKFB1	5207	broad.mit.edu	37	X	54959869	54959869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	461	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542																																						ENST00000375006.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1381-1383)gaG>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137.0	105.0	116.0					X																	54959869		2203	4300	6503	SO:0001583	missense	5207	0	0					g.chrX:54959869C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1383G>T	chrX.hg19:g.54959869C>A	ENSP00000364145:p.Glu461Asp						PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D|PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D	p.E461D	NM_002625.2	NP_002616.2	0	1	1		P16118	F261_HUMAN		14	1453	-			B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	1	1	hg19	c.1383G>T	CCDS14364.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295089	0.23564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	0.356	0.16074	4.28	0.356	0.16074	.	0.161173	0.52532	D	0.000061	T	0.40171	0.1106	L	0.39020	1.185	0.36113	D	0.844969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25222	-1.0138	9	0.21540	T	0.41	-4.2766	8.1101	0.30909	0.0:0.5175:0.0:0.4825	.	396;261;461	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	D	461;396;261	.	ENSP00000364131:E261D	E	-	3	2	2	PFKFB1	54976594	54976594	0.335000	0.24748	0.988000	0.46212	0.811000	0.45836	-0.438000	0.06905	-0.027000	0.13873	0.287000	0.19450	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-4.625048	1	0.170000				58	57		176	174	1		1	0		0	0	61	0		1	0	0	0	0	1	0	58	176
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567																																						ENST00000375006.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(664-666)gaC>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137.0	90.0	106.0					X																	54978518		2203	4300	6503	SO:0001819	synonymous_variant	5207	2	121410	32				g.chrX:54978518G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.666C>T	chrX.hg19:g.54978518G>A							PFKFB1_ENST00000545676.1_Silent_p.D157D|PFKFB1_ENST00000374992.2_Intron	p.D222D	NM_002625.2	NP_002616.2	0	1	1		P16118	F261_HUMAN		8	736	-			B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	1	1	hg19	c.666C>T	CCDS14364.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	1	0	1		2	2	2	0		0	0	49		49	49	1	2.060000	-20.000000	1	0.170000				39	39		107	106	1		1	0		0	0	49	0		1	0	0	1	0	0	0	39	107
ALAS2	212	broad.mit.edu	37	X	55035746	55035746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000330807.5	-	11	1768	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	544					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)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547																																						ENST00000330807.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999887	0.990000	1.000000																										0				17						c.(1630-1632)gGg>gAg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						25.0	21.0	22.0					X																	55035746		2200	4297	6497	SO:0001583	missense	212	0	0					g.chrX:55035746C>T		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.1631G>A	chrX.hg19:g.55035746C>T	ENSP00000332369:p.Gly544Glu						ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	p.G544E	NM_000032.4	NP_000023.2	0	1	1		P22557	HEM0_HUMAN		11	1768	-			A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	1	1	hg19	c.1631G>A	CCDS14366.1	1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174616	0.21704	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97328	-4.34;-4.15;-4.12	5.39	4.52	0.55395	5.39	4.52	0.55395	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047841	0.85682	D	0.000000	D	0.96147	0.8744	M	0.77820	2.39	0.58432	D	0.999999	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.37833	0.167;0.259;0.216	D	0.94339	0.7569	10	0.48119	T	0.1	-16.5056	8.0581	0.30617	0.1612:0.753:0.0:0.0858	.	507;531;544	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	544;531;507	ENSP00000332369:G544E;ENSP00000379501:G531E;ENSP00000337131:G507E	ENSP00000332369:G544E	G	-	2	0	0	ALAS2	55052471	55052471	1.000000	0.71417	0.913000	0.36048	0.012000	0.07955	4.961000	0.63681	1.161000	0.42604	-0.237000	0.12165	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	1	0	1		2	2	2	0		0	0	10		10	9	1	2.060000	-20.000000	1	0.170000	NM_000032			15	14		50	50	1		1	0		0	0	10	0		9.999297e-01	0	0	0	0	1	0	15	50
RRAGB	10325	broad.mit.edu	37	X	55748704	55748704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000262850.7	+	3	655	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000374941.4_Missense_Mutation_p.R71H	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398																																						ENST00000262850.7	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				14						c.(211-213)cGc>cAc		Ras-related GTP binding B							109.0	92.0	98.0					X																	55748704		2203	4300	6503	SO:0001583	missense	10325	0	0					g.chrX:55748704G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.212G>A	chrX.hg19:g.55748704G>A	ENSP00000262850:p.Arg71His						RRAGB_ENST00000374941.4_Missense_Mutation_p.R71H	p.R71H	NM_016656.3	NP_057740.2	0	1	1					3	655	+				Missense_Mutation	SNP	ENST00000262850.7	1	1	hg19	c.212G>A	CCDS14372.1	1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542817	0.65198	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.68025	-0.3;-0.2	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.86502	2.82	0.80722	D	1	D;P	0.89917	1.0;0.593	P;B	0.58172	0.834;0.117	D	0.83654	0.0157	10	0.51188	T	0.08	-5.9192	14.5113	0.67789	0.0:0.0:1.0:0.0	.	71;71	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	H	71;33;71	ENSP00000364077:R71H;ENSP00000410630:R33H	ENSP00000262850:R71H	R	+	2	0	0	RRAGB	55765429	55765429	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	8.725000	0.91468	2.224000	0.72417	0.544000	0.68410	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	1	0	1		2	2	2	0		0	0	48		48	48	1	2.060000	-3.851210	1	0.170000	NM_016656			49	46		176	176	1		1	1		0	0	48	0		1	9.992097e-01	0	10	0	32	0	49	176
SPIN3	169981	broad.mit.edu	37	X	57021054	57021054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	109					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378																																						ENST00000374919.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(325-327)gtC>gtT		spindlin family, member 3							132.0	132.0	132.0					X																	57021054		2136	4253	6389	SO:0001819	synonymous_variant	169981	0	0					g.chrX:57021054G>A	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.327C>T	chrX.hg19:g.57021054G>A								p.V109V	NM_001010862.2	NP_001010862.2	0	1	1		Q5JUX0	SPIN3_HUMAN		2	649	-			B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	ENST00000374919.3	1	1	hg19	c.327C>T	CCDS43963.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	1	0	1		2	2	2	0		0	0	240		240	240	1	2.060000	-20.000000	1	0.170000	XM_093024			171	170		655	647	1		1	0		0	0	240	0		1	3.635723e-01	0	1	0	5	0	171	655
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	87						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393										HNSCC(52;0.14)																												ENST00000374900.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(259-261)gGa>gAa		fatty acid amide hydrolase 2							171.0	151.0	158.0					X																	57318998		2203	4300	6503	SO:0001583	missense	158584	0	0					g.chrX:57318998G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.260G>A	chrX.hg19:g.57318998G>A	ENSP00000364035:p.Gly87Glu		HNSCC(52;0.14)					p.G87E	NM_174912.3	NP_777572.2	0	1	1		Q6GMR7	FAAH2_HUMAN		2	380	+			Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	1	1	hg19	c.260G>A	CCDS14375.1	1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802073	0.31869	.	.	ENSG00000165591	ENST00000374900	T	0.54675	0.56	2.95	1.94	0.25998	2.95	1.94	0.25998	Amidase signature domain (2);	0.068514	0.56097	U	0.000026	T	0.38427	0.1040	N	0.14661	0.345	0.24366	N	0.994852	B	0.29571	0.249	B	0.41135	0.348	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.5532	0.22446	0.0:0.4334:0.5666:0.0	.	87	Q6GMR7	FAAH2_HUMAN	E	87	ENSP00000364035:G87E	ENSP00000364035:G87E	G	+	2	0	0	FAAH2	57335723	57335723	1.000000	0.71417	0.978000	0.43139	0.943000	0.58893	1.589000	0.36644	1.215000	0.43411	0.594000	0.82650	GGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	1	0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-20.000000	1	0.170000	NM_174912			95	93		312	307	1		1	1		0	0	107	0		1	9.999204e-01	0	40	0	8	0	95	312
ARHGEF9	23229	broad.mit.edu	37	X	62898340	62898340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	225	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478																																						ENST00000253401.6	1.000000	0.990000	1	9.900000e-01	0.990000	0.999806	0.990000	1.000000																										0				35						c.(673-675)cGc>cAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							87.0	63.0	72.0					X																	62898340		2203	4300	6503	SO:0001583	missense	23229	0	0					g.chrX:62898340C>T	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.674G>A	chrX.hg19:g.62898340C>T	ENSP00000253401:p.Arg225His						ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H	p.R225H	NM_015185.2	NP_056000.1	0	1	1		O43307	ARHG9_HUMAN		5	1474	-			A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	1	1	hg19	c.674G>A	CCDS35315.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930612	0.92389	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.08	5.08	0.68730	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.94925	3.6	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	0.89143	0.3518	10	0.66056	D	0.02	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	172;223;225;225	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	H	225;223;172;123;204	ENSP00000253401:R225H;ENSP00000364012:R223H;ENSP00000399994:R172H;ENSP00000364004:R123H;ENSP00000364006:R204H	ENSP00000253401:R225H	R	-	2	0	0	ARHGEF9	62815065	62815065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.478	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1	1	0	1		2	2	2	0		0	0	18		18	18	1	2.060000	-12.764860	1	0.170000				15	15		56	56	1		1	1		0	0	18	0		9.999331e-01	9.857169e-01	0	15	0	15	0	15	56
ZC3H12B	340554	broad.mit.edu	37	X	64722815	64722815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	746							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCTATCCCTTGAGTAAC	0.557																																						ENST00000338957.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(2236-2238)cCc>cTc		zinc finger CCCH-type containing 12B							68.0	67.0	67.0					X																	64722815		2184	4293	6477	SO:0001583	missense	340554	0	0					g.chrX:64722815C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2237C>T	chrX.hg19:g.64722815C>T	ENSP00000340839:p.Pro746Leu						ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	p.P746L	NM_001010888.3	NP_001010888.3	0	1	1		Q5HYM0	ZC12B_HUMAN		5	2304	+			B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	1	1	hg19	c.2237C>T	CCDS48131.2	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344645	0.61073	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26660	1.72;1.72	5.94	5.06	0.68205	5.94	5.06	0.68205	.	0.050747	0.85682	D	0.000000	T	0.37019	0.0988	L	0.54323	1.7	0.53688	D	0.999971	D	0.63880	0.993	P	0.52109	0.69	T	0.18304	-1.0341	10	0.87932	D	0	-22.6475	13.9642	0.64199	0.1526:0.8474:0.0:0.0	.	735	Q5HYM0	ZC12B_HUMAN	L	746;735;682	ENSP00000340839:P746L;ENSP00000408077:P735L	ENSP00000218172:P682L	P	+	2	0	0	ZC3H12B	64639540	64639540	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.200000	0.43188	0.506000	0.49869	CCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	1	0	1		2	2	2	0		0	0	57		57	57	1	2.060000	-4.201130	1	0.170000	XM_293334			45	45		150	147	1		1			0	0	57	0		1	0	0	0	0	0	0	45	150
VSIG4	11326	broad.mit.edu	37	X	65253408	65253408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65253408T>G	ENST00000374737.4	-	2	428	c.320A>C	c.(319-321)gAc>gCc	p.D107A	VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A|VSIG4_ENST00000455586.2_Missense_Mutation_p.D107A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	107	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGGCTCCGGTCATCCATCTC	0.542																																						ENST00000374737.4	0.370000	0.130000	3.100000e-01	1.800000e-01	0.230000	0.248671	0.230000	0.240000																										0				29						c.(319-321)gAc>gCc		V-set and immunoglobulin domain containing 4							137.0	118.0	125.0					X																	65253408		2203	4300	6503	SO:0001583	missense	11326	0	0					g.chrX:65253408T>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.320A>C	chrX.hg19:g.65253408T>G	ENSP00000363869:p.Asp107Ala						VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A|VSIG4_ENST00000455586.2_Missense_Mutation_p.D107A	p.D107A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	0	1	1		Q9Y279	VSIG4_HUMAN		2	428	-			Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	0	1	hg19	c.320A>C	CCDS14383.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.65|15.65	2.897185|2.897185	0.52121|0.52121	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	4.88|4.88	4.88|4.88	0.63580|0.63580	4.88|4.88	4.88|4.88	0.63580|0.63580	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.73257|.	0.3564|.	M|M	0.81802|0.81802	2.56|2.56	0.39632|0.39632	D|D	0.970198|0.970198	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|.	T|.	0.76179|.	-0.3054|.	10|.	0.72032|.	D|.	0.01|.	-21.8408|-21.8408	9.9597|9.9597	0.41688|0.41688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107;107;97;107;107|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	A|C	107|33	ENSP00000363869:D107A;ENSP00000411581:D107A;ENSP00000394143:D107A|.	ENSP00000363869:D107A|.	D|X	-|-	2|3	0|0	0|0	VSIG4|VSIG4	65170133|65170133	65170133|65170133	0.997000|0.997000	0.39634|0.39634	0.864000|0.864000	0.33941|0.33941	0.435000|0.435000	0.31806|0.31806	3.569000|3.569000	0.53827|0.53827	1.614000|1.614000	0.50241|0.50241	0.481000|0.481000	0.45027|0.45027	GAC|TGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	0	0	1		2	2	2	0		0	0	188		188	188	1	2.060000	-3.248705	1	0.170000	NM_007268			15	14		735	724	0		1	0		0	0	188	0		9.998541e-01	9.885639e-01	0	0	0	358	0	15	735
HEPH	9843	broad.mit.edu	37	X	65420511	65420511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000343002.2	+	11	2658	c.1994T>C	c.(1993-1995)gTg>gCg	p.V665A	HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A			Q9BQS7	HEPH_HUMAN	hephaestin	665	Plastocyanin-like 4.				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)			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						GGCAACACTGTGCAGCTTCAG	0.567																																						ENST00000343002.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(1993-1995)gTg>gCg		hephaestin							169.0	103.0	126.0					X																	65420511		2203	4300	6503	SO:0001583	missense	9843	0	0					g.chrX:65420511T>C	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.1994T>C	chrX.hg19:g.65420511T>C	ENSP00000343939:p.Val665Ala						HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A	p.V665A			0	1	1		Q9BQS7	HEPH_HUMAN		11	2658	+			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	1	1	hg19	c.1994T>C		1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.221411	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.73	4.73	0.59995	4.73	4.73	0.59995	Cupredoxin (2);	0.309310	0.31601	N	0.007363	D	0.98902	0.9628	L	0.52573	1.65	0.09310	N	0.999994	B;B	0.30179	0.14;0.271	B;B	0.26614	0.071;0.066	D	0.98994	1.0809	10	0.62326	D	0.03	.	12.2515	0.54601	0.0:0.0:0.0:1.0	.	719;665	E9PHN8;Q9BQS7	.;HEPH_HUMAN	A	719;668;398;668;665;622	ENSP00000430620:V719A;ENSP00000363859:V668A;ENSP00000337418:V398A;ENSP00000411687:V668A;ENSP00000343939:V665A;ENSP00000398078:V622A	ENSP00000337418:V398A	V	+	2	0	0	HEPH	65337236	65337236	0.968000	0.33430	0.978000	0.43139	0.961000	0.63080	7.559000	0.82265	1.569000	0.49696	0.486000	0.48141	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	1	0	0		2	2	2	0		0	0	53		53	52	1	2.060000	-20.000000	1	0.170000	NM_138737			36	35		142	136	1		1	1		0	0	53	0		1	1	0	35	0	100	0	36	142
HEPH	9843	broad.mit.edu	37	X	65486305	65486305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000343002.2	+	20	3932	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K			Q9BQS7	HEPH_HUMAN	hephaestin	1090					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)			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						AGACATTGAAGAAGGCAATGT	0.463																																						ENST00000343002.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				89						c.(3268-3270)Gaa>Aaa		hephaestin							194.0	138.0	157.0					X																	65486305		2203	4300	6503	SO:0001583	missense	9843	0	0					g.chrX:65486305G>A	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.3268G>A	chrX.hg19:g.65486305G>A	ENSP00000343939:p.Glu1090Lys						HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K	p.E1090K			0	1	1		Q9BQS7	HEPH_HUMAN		20	3932	+			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	1	1	hg19	c.3268G>A		1	.	.	.	.	.	.	.	.	.	.	G	8.948	0.967504	0.18659	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99277	-5.67;-5.66;-5.66;-5.64;-5.66;-5.66	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.714431	0.12167	N	0.493373	D	0.96682	0.8917	L	0.27053	0.805	0.09310	N	1	B;P;B	0.48998	0.01;0.918;0.094	B;B;B	0.40009	0.004;0.316;0.016	D	0.91369	0.5118	10	0.06099	T	0.92	.	13.9687	0.64225	0.0:0.0:1.0:0.0	.	1144;901;1090	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	K	1144;1093;823;1092;901;1090	ENSP00000430620:E1144K;ENSP00000363859:E1093K;ENSP00000337418:E823K;ENSP00000411687:E1092K;ENSP00000413211:E901K;ENSP00000343939:E1090K	ENSP00000337418:E823K	E	+	1	0	0	HEPH	65403030	65403030	0.923000	0.31300	0.023000	0.16930	0.011000	0.07611	1.912000	0.39946	2.315000	0.78130	0.600000	0.82982	GAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	1	0	1		2	2	2	0		0	0	81		81	80	1	2.060000	-20.000000	1	0.170000	NM_138737			49	48		179	175	1		1	1		0	0	81	0		1	1	0	84	0	128	0	49	179
AR	367	broad.mit.edu	37	X	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.R221*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	752	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|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)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532									Androgen Insensitivity Syndrome																													ENST00000374690.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				67	GRCh37	CM920998	AR	M		c.(2257-2259)Cga>Tga		androgen receptor	Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)						148.0	102.0	117.0					X																	66937403		2203	4300	6503	SO:0001587	stop_gained	367	0	0		Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	g.chrX:66937403C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2257C>T	chrX.hg19:g.66937403C>T	ENSP00000363822:p.Arg753*						AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.R221*	p.R753*	NM_000044.3	NP_000035.2	0	1	1		P10275	ANDR_HUMAN		5	2781	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	0	1	hg19	c.2257C>T	CCDS14387.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.473941	0.96291	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	1.86	0.25419	4.99	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6126	0.45432	0.6588:0.3412:0.0:0.0	.	.	.	.	X	563;753;221	.	ENSP00000363822:R753X	R	+	1	2	2	AR	66854128	66854128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.969000	0.49232	0.464000	0.27142	0.597000	0.82753	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.532	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-20.000000	1	0.170000	NM_000044			51	49		138	135	1		1	0		0	0	44	0		1	8.982839e-01	0	0	0	13	0	51	138
OPHN1	4983	broad.mit.edu	37	X	67283811	67283811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612																																						ENST00000355520.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(2041-2043)ggG>ggT		oligophrenin 1							79.0	60.0	66.0					X																	67283811		2203	4300	6503	SO:0001819	synonymous_variant	4983	0	0					g.chrX:67283811C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2043G>T	chrX.hg19:g.67283811C>A							OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	p.G681G	NM_002547.2	NP_002538.1	0	1	1		O60890	OPHN1_HUMAN		21	2684	-			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	1	1	hg19	c.2043G>T	CCDS14388.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	0	0	1		2	2	2	0		0	0	60		60	59	1	2.060000	-20.000000	1	0.170000	NM_002547			40	38		177	177	1		1	1		0	0	60	0		1	6.297690e-01	0	5	0	6	0	40	177
STARD8	9754	broad.mit.edu	37	X	67937991	67937991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	332					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTACCCAGACCTGGGGCCT	0.577																																						ENST00000252336.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				50						c.(994-996)gAc>gGc		StAR-related lipid transfer (START) domain containing 8							50.0	45.0	47.0					X																	67937991		2203	4300	6503	SO:0001583	missense	9754	0	0					g.chrX:67937991A>G	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.995A>G	chrX.hg19:g.67937991A>G	ENSP00000252336:p.Asp332Gly						STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	p.D332G	NM_014725.4	NP_055540.2	0	1	1		Q92502	STAR8_HUMAN		5	1367	+			A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	1	1	hg19	c.995A>G	CCDS14390.1	1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646943	0.29246	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10477	2.87;2.89;2.87	4.4	4.4	0.53042	4.4	4.4	0.53042	.	0.374529	0.28026	N	0.016882	T	0.13543	0.0328	L	0.56769	1.78	0.31714	N	0.639101	B;B	0.33238	0.403;0.281	B;B	0.36289	0.221;0.11	T	0.05305	-1.0893	10	0.44086	T	0.13	.	10.6264	0.45510	1.0:0.0:0.0:0.0	.	412;332	Q92502-2;Q92502	.;STAR8_HUMAN	G	332;412;332	ENSP00000252336:D332G;ENSP00000363727:D412G;ENSP00000363725:D332G	ENSP00000252336:D332G	D	+	2	0	0	STARD8	67854716	67854716	0.995000	0.38212	0.886000	0.34754	0.744000	0.42396	3.846000	0.55888	1.629000	0.50426	0.486000	0.48141	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	0		2	2	2	0		0	0	38		38	38	1	2.060000	-20.000000	1	0.170000	NM_014725			45	42		125	125	1		1	0		0	0	38	0		1	9.987658e-01	0	1	0	31	0	45	125
STARD8	9754	broad.mit.edu	37	X	67938081	67938081	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	362					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTCTCAGCCAGATGGAG	0.602																																						ENST00000252336.6	1.000000	0.450000	1	6.200000e-01	0.820000	0.812186	0.820000	1.000000																										0				50						c.(1084-1086)aGc>aCc		StAR-related lipid transfer (START) domain containing 8							47.0	44.0	45.0					X																	67938081		2203	4300	6503	SO:0001583	missense	9754	0	0					g.chrX:67938081G>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1085G>C	chrX.hg19:g.67938081G>C	ENSP00000252336:p.Ser362Thr						STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	p.S362T	NM_014725.4	NP_055540.2	0	1	1		Q92502	STAR8_HUMAN		5	1457	+			A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	1	1	hg19	c.1085G>C	CCDS14390.1	0	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150056	0.00328	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	3.34	-0.62	0.11567	3.34	-0.62	0.11567	.	1.318330	0.05395	N	0.539601	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43278	-0.9401	10	0.14656	T	0.56	.	3.6177	0.08083	0.1562:0.2409:0.4911:0.1118	.	442;362	Q92502-2;Q92502	.;STAR8_HUMAN	T	362;442;362	ENSP00000252336:S362T;ENSP00000363727:S442T;ENSP00000363725:S362T	ENSP00000252336:S362T	S	+	2	0	0	STARD8	67854806	67854806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.407000	0.07178	-0.286000	0.09076	-1.045000	0.02358	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	0		2	2	2	0		0	0	55		55	55	1	2.060000	-16.364690	1	0.170000	NM_014725			12	12		161	157	0		1	0		0	0	55	0		9.991028e-01	3.337407e-01	0	0	0	16	0	12	161
STARD8	9754	broad.mit.edu	37	X	67938201	67938201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	ENST00000252336.6	+	5	1577	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	STARD8_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	402					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGAGGCTGAggccccg	0.687																																						ENST00000252336.6	1.000000	0.920000	1	9.900000e-01	0.990000	0.995501	0.990000	1.000000																										0				50						c.(1204-1206)gCt>gAt		StAR-related lipid transfer (START) domain containing 8							10.0	11.0	10.0					X																	67938201		2183	4258	6441	SO:0001583	missense	9754	0	0					g.chrX:67938201C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1205C>A	chrX.hg19:g.67938201C>A	ENSP00000252336:p.Ala402Asp						STARD8_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	p.A402D	NM_014725.4	NP_055540.2	0	1	1		Q92502	STAR8_HUMAN		5	1577	+			A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	0	1	hg19	c.1205C>A	CCDS14390.1	1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745833	0.15710	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10192	2.9;2.91;2.9	4.05	4.05	0.47172	4.05	4.05	0.47172	.	0.746254	0.11133	N	0.596109	T	0.17916	0.0430	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	T	0.11251	-1.0595	10	0.13853	T	0.58	.	11.3699	0.49694	0.0:1.0:0.0:0.0	.	482;402	Q92502-2;Q92502	.;STAR8_HUMAN	D	402;482;402	ENSP00000252336:A402D;ENSP00000363727:A482D;ENSP00000363725:A402D	ENSP00000252336:A402D	A	+	2	0	0	STARD8	67854926	67854926	0.231000	0.23751	0.019000	0.16419	0.024000	0.10985	0.871000	0.28023	1.959000	0.56917	0.600000	0.82982	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	1		2	2	2	0		0	0	21		21	20	1	2.060000	-20.000000	1	0.170000	NM_014725			16	16		105	105	0		1	0		0	0	21	0		9.999545e-01	3.578479e-01	0	0	0	9	0	16	105
EFNB1	1947	broad.mit.edu	37	X	68060137	68060137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	227					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGGGCAGCAGCGGGGACCCTG	0.597																																						ENST00000204961.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(679-681)agC>agT		ephrin-B1							52.0	54.0	53.0					X																	68060137		2203	4300	6503	SO:0001819	synonymous_variant	1947	0	0					g.chrX:68060137C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.681C>T	chrX.hg19:g.68060137C>T								p.S227S	NM_004429.4	NP_004420.1	0	1	1		P98172	EFNB1_HUMAN		5	1461	+			D3DVU0	Silent	SNP	ENST00000204961.4	1	1	hg19	c.681C>T	CCDS14391.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_004429			41	39		152	149	1		1	1		0	0	45	0		1	1	0	283	0	77	0	41	152
PJA1	64219	broad.mit.edu	37	X	68382464	68382464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	ENST00000361478.1	-	2	995	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	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	206					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAGAAGACGACTGTGAGGCCA	0.542																																						ENST00000361478.1	1.000000	0.410000	1	5.700000e-01	0.760000	0.768624	0.760000	1.000000																										0				21						c.(616-618)caG>caT		praja ring finger 1, E3 ubiquitin protein ligase							53.0	37.0	43.0					X																	68382464		2203	4300	6503	SO:0001583	missense	64219	0	0					g.chrX:68382464C>A	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.618G>T	chrX.hg19:g.68382464C>A	ENSP00000355014:p.Gln206His						PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H|PJA1_ENST00000374584.3_Intron	p.Q206H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	0	1	1		Q8NG27	PJA1_HUMAN		2	995	-			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	1	1	hg19	c.618G>T	CCDS14393.1	0	.	.	.	.	.	.	.	.	.	.	c	3.484	-0.105231	0.06967	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14893	2.47;2.47;2.47	2.68	1.76	0.24704	2.68	1.76	0.24704	.	1.378800	0.05464	U	0.551802	T	0.17066	0.0410	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32798	-0.9893	10	0.49607	T	0.09	.	3.5115	0.07709	0.0:0.5748:0.2667:0.1585	.	206	Q8NG27	PJA1_HUMAN	H	121;206;206;151	ENSP00000363711:Q206H;ENSP00000355014:Q206H;ENSP00000363699:Q151H	ENSP00000355014:Q206H	Q	-	3	2	2	PJA1	68299189	68299189	0.634000	0.27190	0.007000	0.13788	0.525000	0.34531	0.240000	0.18042	0.553000	0.29044	0.460000	0.39030	CAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	1		2	2	2	0		0	0	34		34	33	1	2.060000	-15.090090	1	0.170000	NM_145119			11	11		160	159	0		1	0		0	0	34	0		9.984564e-01	8.276291e-01	0	0	0	49	0	11	160
PJA1	64219	broad.mit.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	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	136					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522																																						ENST00000361478.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(406-408)Cga>Tga		praja ring finger 1, E3 ubiquitin protein ligase							46.0	45.0	45.0					X																	68382676		2203	4300	6503	SO:0001587	stop_gained	64219	1	121410	30				g.chrX:68382676G>A	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.406C>T	chrX.hg19:g.68382676G>A	ENSP00000355014:p.Arg136*						PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000374584.3_Intron	p.R136*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	0	1	1		Q8NG27	PJA1_HUMAN		2	783	-			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Nonsense_Mutation	SNP	ENST00000361478.1	0	1	hg19	c.406C>T	CCDS14393.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	2	PJA1	68299401	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	0		2	2	2	0		0	0	51		51	51	1	2.060000	-20.000000	1	0.170000	NM_145119			52	51		169	164	0		1	1		0	0	51	0		1	9.999994e-01	0	4	0	70	0	52	169
PJA1	64219	broad.mit.edu	37	X	68382741	68382741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000374583.1_Missense_Mutation_p.A114V|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	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	114					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGTCCATAGGCCATTCCTCT	0.507																																						ENST00000361478.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999858	0.990000	1.000000																										0				21						c.(340-342)gCc>gTc		praja ring finger 1, E3 ubiquitin protein ligase							78.0	72.0	74.0					X																	68382741		2203	4300	6503	SO:0001583	missense	64219	0	0					g.chrX:68382741G>A	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.341C>T	chrX.hg19:g.68382741G>A	ENSP00000355014:p.Ala114Val						PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V|PJA1_ENST00000374584.3_Intron	p.A114V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	0	1	1		Q8NG27	PJA1_HUMAN		2	718	-			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	1	1	hg19	c.341C>T	CCDS14393.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.25	3.25	0.37280	3.25	3.25	0.37280	.	0.160475	0.27821	U	0.017709	T	0.15435	0.0372	L	0.42245	1.32	0.29973	N	0.8184	P	0.51057	0.941	P	0.46172	0.506	T	0.03364	-1.1044	10	0.51188	T	0.08	-7.9662	11.8051	0.52150	0.0:0.0:1.0:0.0	.	114	Q8NG27	PJA1_HUMAN	V	59;114;114;59	ENSP00000363711:A114V;ENSP00000355014:A114V;ENSP00000363699:A59V	ENSP00000355014:A114V	A	-	2	0	0	PJA1	68299466	68299466	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.735000	0.68587	1.925000	0.55765	0.534000	0.68092	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	0		2	2	2	0		0	0	77		77	77	1	2.060000	-20.000000	1	0.170000	NM_145119			47	46		322	314	1		1	1		0	0	77	0		1	9.932730e-01	0	2	0	53	0	47	322
FAM155B	27112	broad.mit.edu	37	X	68725452	68725452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	ENST00000252338.4	+	1	369	c.327G>A	c.(325-327)gcG>gcA	p.A109A	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	109						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						agcccagcgcgcccccAGGCA	0.816																																						ENST00000252338.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999119	0.990000	1.000000																										0				16						c.(325-327)gcG>gcA		family with sequence similarity 155, member B							3.0	4.0	4.0					X																	68725452		1290	2856	4146	SO:0001819	synonymous_variant	27112	0	0					g.chrX:68725452G>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.327G>A	chrX.hg19:g.68725452G>A							AL158069.1_ENST00000579664.1_RNA	p.A109A	NM_015686.2	NP_056501.2	0	1	1		O75949	F155B_HUMAN		1	369	+			B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	0	1	hg19	c.327G>A	CCDS35317.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.816	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	0	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_015686			11	11		40	39	0		1			0	0	13	0		9.988288e-01	0	0	0	0	0	0	11	40
EDA	1896	broad.mit.edu	37	X	68836217	68836217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	ENST00000374552.4	+	1	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	22					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GAGCGAGGGAGCCAGGGCTGC	0.716																																						ENST00000374552.4	1.000000	0.720000	1	8.900000e-01	0.990000	0.962438	0.990000	1.000000																										0				14	GRCh37	CD011600	EDA	D		c.(64-66)aGc>aAc		ectodysplasin A							15.0	16.0	15.0					X																	68836217		2187	4241	6428	SO:0001583	missense	1896	0	0					g.chrX:68836217G>A	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.65G>A	chrX.hg19:g.68836217G>A	ENSP00000363680:p.Ser22Asn						EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Missense_Mutation_p.S22N	p.S22N	NM_001399.4	NP_001390.1	0	1	1		Q92838	EDA_HUMAN		1	307	+			A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	0	1	hg19	c.65G>A	CCDS14394.1	1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010706	0.19277	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.97791	-4.54;-3.69;-3.73;-4.5;-4.54;-3.58	4.56	1.84	0.25277	4.56	1.84	0.25277	.	0.635376	0.15579	N	0.255024	D	0.92925	0.7749	N	0.19112	0.55	0.19775	N	0.999951	B;B;B;B;B;B;B;B	0.13594	0.001;0.0;0.001;0.003;0.001;0.003;0.008;0.003	B;B;B;B;B;B;B;B	0.11329	0.001;0.001;0.001;0.004;0.002;0.002;0.006;0.002	D	0.86464	0.1781	10	0.72032	D	0.01	-1.5345	6.1542	0.20328	0.3371:0.0:0.6629:0.0	.	22;22;22;22;22;22;22;22	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	N	22	ENSP00000340611:S22N;ENSP00000363680:S22N;ENSP00000363681:S22N;ENSP00000434195:S22N;ENSP00000434861:S22N;ENSP00000432585:S22N	ENSP00000340611:S22N	S	+	2	0	0	EDA	68752942	68752942	1.000000	0.71417	0.928000	0.36995	0.366000	0.29705	2.389000	0.44407	0.061000	0.16311	-0.208000	0.12717	AGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.716	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	1	0	1		2	2	2	0		0	0	26		26	13	1	2.060000	-20.000000	1	0.170000	NM_001399			23	15		223	153	0		1			0	0	26	0		9.999730e-01	0	0	0	0	0	0	23	223
DGAT2L6	347516	broad.mit.edu	37	X	69420280	69420280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	148					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGGATCCCAATTGTGCGA	0.408																																						ENST00000333026.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(442-444)cCa>cTa		diacylglycerol O-acyltransferase 2-like 6							112.0	90.0	98.0					X																	69420280		2203	4300	6503	SO:0001583	missense	347516	0	0					g.chrX:69420280C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.443C>T	chrX.hg19:g.69420280C>T	ENSP00000328036:p.Pro148Leu							p.P148L	NM_198512.1	NP_940914.1	0	1	1		Q6ZPD8	DG2L6_HUMAN		4	543	+			Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	1	1	hg19	c.443C>T	CCDS14397.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902020	0.72754	.	.	ENSG00000184210	ENST00000333026	D	0.96745	-4.11	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.98444	0.9482	H	0.95079	3.62	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	D	0.99425	1.0934	10	0.72032	D	0.01	-4.8718	14.8682	0.70434	0.0:1.0:0.0:0.0	.	148	Q6ZPD8	DG2L6_HUMAN	L	148	ENSP00000328036:P148L	ENSP00000328036:P148L	P	+	2	0	0	DGAT2L6	69337005	69337005	1.000000	0.71417	0.985000	0.45067	0.375000	0.29983	6.854000	0.75440	2.390000	0.81377	0.600000	0.82982	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.408	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	1	0	1		2	2	2	0		0	0	60		60	60	1	2.060000	-3.116281	1	0.170000	NM_198512			43	42		180	175	1		1			0	0	60	0		1	0	0	0	0	0	0	43	180
ARR3	407	broad.mit.edu	37	X	69497300	69497300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000307959.8	+	9	581	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000374495.3_Missense_Mutation_p.P177H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	177					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582																																						ENST00000307959.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999999	0.990000	1.000000																										0				16						c.(529-531)cCt>cAt		arrestin 3, retinal (X-arrestin)							72.0	62.0	65.0					X																	69497300		2203	4300	6503	SO:0001583	missense	407	0	0					g.chrX:69497300C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.530C>A	chrX.hg19:g.69497300C>A	ENSP00000311538:p.Pro177His						ARR3_ENST00000374495.3_Missense_Mutation_p.P177H	p.P177H	NM_004312.2	NP_004303.2	0	1	1		P36575	ARRC_HUMAN		9	581	+			B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	1	1	hg19	c.530C>A	CCDS14399.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148748	0.78001	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.79	4.37	4.37	0.52481	4.37	4.37	0.52481	Immunoglobulin E-set (1);	0.164200	0.56097	D	0.000036	T	0.38321	0.1036	M	0.79258	2.445	0.51012	D	0.999904	D;D	0.67145	0.996;0.991	P;P	0.58172	0.712;0.834	T	0.42481	-0.9449	10	0.72032	D	0.01	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	177;177	P36575;P36575-2	ARRC_HUMAN;.	H	177	ENSP00000363619:P177H;ENSP00000311538:P177H	ENSP00000311538:P177H	P	+	2	0	0	ARR3	69414025	69414025	0.972000	0.33761	0.987000	0.45799	0.666000	0.39218	3.340000	0.52143	1.903000	0.55091	0.513000	0.50165	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.582	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	1	0	1		2	2	2	0		0	0	46		46	46	1	2.060000	-20.000000	1	0.170000	NM_004312			31	31		118	116	1		1			0	0	46	0		1	0	0	0	0	0	0	31	118
KIF4A	24137	broad.mit.edu	37	X	69596055	69596055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	ENST00000374403.3	+	18	2111	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	677	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGTTAAAAGAACGAGTAAG	0.378																																						ENST00000374403.3	1.000000	0.370000	9.900000e-01	5.300000e-01	0.730000	0.744303	0.730000	1.000000																										0				51						c.(2029-2031)Gaa>Aaa		kinesin family member 4A							49.0	46.0	47.0					X																	69596055		2203	4299	6502	SO:0001583	missense	24137	0	0					g.chrX:69596055G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2029G>A	chrX.hg19:g.69596055G>A	ENSP00000363524:p.Glu677Lys						KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	p.E677K	NM_012310.4	NP_036442.3	0	1	1		O95239	KIF4A_HUMAN		18	2111	+			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	1	1	hg19	c.2029G>A	CCDS14401.1	0	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538489	0.85917	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000021	T	0.10981	0.0268	N	0.20401	0.57	0.80722	D	1	P;B	0.46706	0.883;0.024	B;B	0.43867	0.434;0.047	T	0.24657	-1.0154	10	0.14252	T	0.57	.	16.1063	0.81225	0.0:0.0:1.0:0.0	.	677;677	O95239;O95239-2	KIF4A_HUMAN;.	K	677	ENSP00000363509:E677K;ENSP00000363524:E677K	ENSP00000363509:E677K	E	+	1	0	0	KIF4A	69512780	69512780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.484000	0.90445	2.347000	0.79759	0.594000	0.82650	GAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	1	0	1		2	2	2	0		0	0	50		50	50	1	2.060000	-12.954110	1	0.170000	NM_012310			9	9		137	137	0		1	1		0	0	50	0		9.946846e-01	4.330936e-01	0	3	0	19	0	9	137
DLG3	1741	broad.mit.edu	37	X	69719830	69719830	+	Silent	SNP	C	C	T	rs535820581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000374360.3	+	16	2309	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Silent_p.I724I|DLG3_ENST00000374355.3_Silent_p.I387I	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	692	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507													T|||	5	0.0013245	0.0	0.0	3775	,	,		13799	0.0		0.0	False		,,,				2504	0.0051					ENST00000374360.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				22						c.(2074-2076)atC>atT		discs, large homolog 3 (Drosophila)							96.0	73.0	81.0					X																	69719830		2203	4300	6503	SO:0001819	synonymous_variant	1741	219	121406	51				g.chrX:69719830C>T	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.2076C>T	chrX.hg19:g.69719830C>T							DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000194900.4_Silent_p.I724I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Silent_p.I387I	p.I692I	NM_021120.3	NP_066943.2	0	1	1		Q92796	DLG3_HUMAN		16	2309	+	Renal(35;0.156)		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	1	1	hg19	c.2076C>T	CCDS14403.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	1	0	1		2	2	2	0		0	0	38		38	37	1	2.060000	-20.000000	1	0.170000	NM_021120			37	36		120	115	1		1	1		0	0	38	0		1	1	0	121	0	36	0	37	120
TEX11	56159	broad.mit.edu	37	X	69749792	69749792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	875					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AACATAAGTACTCCGGTATTC	0.438																																						ENST00000395889.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2623-2625)Gta>Ata		testis expressed 11							124.0	97.0	106.0					X																	69749792		2203	4300	6503	SO:0001583	missense	56159	0	0					g.chrX:69749792C>T	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.2623G>A	chrX.hg19:g.69749792C>T	ENSP00000379226:p.Val875Ile						TEX11_ENST00000344304.3_Missense_Mutation_p.V875I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000374320.2_Missense_Mutation_p.V550I	p.V875I	NM_001003811.1	NP_001003811.1	0	1	1		Q8IYF3	TEX11_HUMAN		30	2778	-	Renal(35;0.156)		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	1	1	hg19	c.2623G>A	CCDS35323.1	1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621150	0.00820	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.38887	1.7;1.69;1.11;1.69	4.33	1.86	0.25419	4.33	1.86	0.25419	.	0.228496	0.32533	N	0.005965	T	0.10337	0.0253	N	0.00471	-1.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	.	.	.	-9.7909	5.8574	0.18727	0.0:0.3422:0.0:0.6578	.	860;875	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	860;875;550;875	ENSP00000363453:V860I;ENSP00000379226:V875I;ENSP00000363440:V550I;ENSP00000340995:V875I	.	V	-	1	0	0	TEX11	69666517	69666517	1.000000	0.71417	0.457000	0.27056	0.563000	0.35712	1.370000	0.34238	0.541000	0.28827	-0.428000	0.05917	GTA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.438	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1	1	0	1		2	2	2	0		0	0	74		74	73	1	2.060000	-20.000000	1	0.170000				103	102		314	309	1		1	0		0	0	74	0		1	7.955141e-01	0	0	0	11	0	103	314
TEX11	56159	broad.mit.edu	37	X	69843825	69843825	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	591					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCATTTCAGCAATTTTTGGA	0.308																																						ENST00000395889.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(1771-1773)Gct>Act		testis expressed 11							90.0	88.0	89.0					X																	69843825		2203	4300	6503	SO:0001583	missense	56159	0	0					g.chrX:69843825C>T	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.1771G>A	chrX.hg19:g.69843825C>T	ENSP00000379226:p.Ala591Thr						TEX11_ENST00000344304.3_Missense_Mutation_p.A591T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000374320.2_Missense_Mutation_p.A266T	p.A591T	NM_001003811.1	NP_001003811.1	0	1	1		Q8IYF3	TEX11_HUMAN		21	1926	-	Renal(35;0.156)		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	1	1	hg19	c.1771G>A	CCDS35323.1	1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553547	0.03996	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.78	-6.73	0.01749	3.78	-6.73	0.01749	.	1.295100	0.05298	N	0.522521	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.16600	-1.0397	9	.	.	.	.	0.3425	0.00336	0.2225:0.2971:0.2025:0.2779	.	576;591	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	576;591;266;591	ENSP00000363453:A576T;ENSP00000379226:A591T;ENSP00000363440:A266T;ENSP00000340995:A591T	.	A	-	1	0	0	TEX11	69760550	69760550	0.025000	0.19082	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.777000	0.01283	-0.465000	0.05216	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.308	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1	1	0	1		2	2	2	0		0	0	111		111	110	1	2.060000	-20.000000	1	0.170000				66	66		254	250	1		1	0		0	0	111	0		1	0	0	1	0	0	0	66	254
MED12	9968	broad.mit.edu	37	X	70348222	70348222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000374080.3	+	23	3318	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000374102.1_Missense_Mutation_p.L1096I|MED12_ENST00000333646.6_Missense_Mutation_p.L1096I			Q93074	MED12_HUMAN	mediator complex subunit 12	1096					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTAGGAGTGCTTAAGGCCTT	0.507			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000374080.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		X	Xq13	Xq13	9968	M, S	mediator complex subunit 12	Yes	Yes	Opitz-Kaveggia Syndrome	M	M			uterine leiomyoma		0				420						c.(3286-3288)Ctt>Att		mediator complex subunit 12							122.0	115.0	117.0					X																	70348222		2134	4235	6369	SO:0001583	missense	9968	0	0					g.chrX:70348222C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3286C>A	chrX.hg19:g.70348222C>A	ENSP00000363193:p.Leu1096Ile						MED12_ENST00000374102.1_Missense_Mutation_p.L1096I|MED12_ENST00000333646.6_Missense_Mutation_p.L1096I	p.L1096I			0	1	1		Q93074	MED12_HUMAN		23	3318	+	Renal(35;0.156)		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	1	1	hg19	c.3286C>A	CCDS43970.1	1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.291488	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.53561	1.675	0.80722	D	1	D;D;P;D	0.65815	0.995;0.988;0.815;0.98	P;P;P;P	0.62435	0.902;0.885;0.551;0.881	T	0.58923	-0.7550	10	0.49607	T	0.09	-12.9991	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1096;943;1096;1096	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1096;1096;1096;1096;1064	ENSP00000333125:L1096I;ENSP00000363215:L1096I;ENSP00000363193:L1096I;ENSP00000414203:L1064I	ENSP00000333125:L1096I	L	+	1	0	0	MED12	70264947	70264947	1.000000	0.71417	0.156000	0.22583	0.994000	0.84299	7.100000	0.76989	2.318000	0.78349	0.597000	0.82753	CTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	1	0	1		2	2	2	0		0	0	142		142	142	1	2.060000	-20.000000	1	0.170000	NM_005120			160	158		461	456	1		1	1		0	0	142	0		1	9.999992e-01	0	28	0	32	0	160	461
NLGN3	54413	broad.mit.edu	37	X	70375079	70375079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70375079G>A	ENST00000358741.3	+	5	896	c.593G>A	c.(592-594)gGt>gAt	p.G198D	NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.G178D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	198					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)			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)					CGGGACAGTGGTGCTAAACCC	0.602																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000358741.3	0.650000	0.140000	5.000000e-01	2.300000e-01	0.340000	0.370891	0.340000	0.320000																										0				37						c.(592-594)gGt>gAt		neuroligin 3							171.0	109.0	130.0					X																	70375079		2203	4300	6503	SO:0001583	missense	54413	0	0					g.chrX:70375079G>A	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.593G>A	chrX.hg19:g.70375079G>A	ENSP00000351591:p.Gly198Asp						NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000374051.3_Missense_Mutation_p.G178D	p.G198D	NM_181303.1	NP_851820.1	0	1	1		Q9NZ94	NLGN3_HUMAN		5	896	+	Renal(35;0.156)		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	0	1	hg19	c.593G>A	CCDS55441.1	0	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369061	0.42003	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.21545	0.675	0.58432	D	0.999996	B;B;B	0.32653	0.053;0.022;0.379	B;B;B	0.41646	0.362;0.029;0.248	T	0.56226	-0.8014	10	0.46703	T	0.11	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	158;158;178	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	D	158;61;178;158;198	ENSP00000445298:G158D;ENSP00000363163:G178D;ENSP00000379196:G158D;ENSP00000351591:G198D	ENSP00000351591:G198D	G	+	2	0	0	NLGN3	70291804	70291804	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.399000	0.79935	2.054000	0.61138	0.544000	0.68410	GGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.602	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	0	0	0		2	2	2	0		0	0	48		48	48	1	2.060000	-7.773539	1	0.170000	NM_018977			6	6		209	206	0		1	0		0	0	48	0		9.640708e-01	1.089758e-02	0	0	0	5	0	6	209
ZMYM3	9203	broad.mit.edu	37	X	70471421	70471421	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	ENST00000353904.2	-	3	885	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	233					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)			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)					TTCAGGCGGCTTCTCACTCGC	0.597																																						ENST00000353904.2	1.000000	0.820000	1	9.900000e-01	0.990000	0.989390	0.990000	1.000000																										0				64						c.(697-699)aAg>aCg		zinc finger, MYM-type 3							54.0	32.0	39.0					X																	70471421		2199	4294	6493	SO:0001583	missense	9203	0	0					g.chrX:70471421T>G	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.698A>C	chrX.hg19:g.70471421T>G	ENSP00000343909:p.Lys233Thr						ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T	p.K233T	NM_005096.3	NP_005087.1	0	1	1		Q14202	ZMYM3_HUMAN		3	885	-	Renal(35;0.156)		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	1	1	hg19	c.698A>C	CCDS14409.1	1	.	.	.	.	.	.	.	.	.	.	t	11.37	1.618980	0.28801	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47177	1.45;0.87;1.45;1.43;1.43;0.85;0.85	4.3	1.71	0.24356	4.3	1.71	0.24356	.	1.156830	0.06391	N	0.717056	T	0.27278	0.0669	N	0.19112	0.55	0.24063	N	0.996006	B;B;B	0.29716	0.255;0.065;0.039	B;B;B	0.26614	0.071;0.02;0.009	T	0.22034	-1.0228	10	0.19590	T	0.45	-11.5712	2.1559	0.03811	0.1405:0.0922:0.2733:0.4939	.	233;233;233	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	233	ENSP00000322845:K233T;ENSP00000363110:K233T;ENSP00000343909:K233T;ENSP00000363096:K233T;ENSP00000363100:K233T;ENSP00000363094:K233T;ENSP00000363093:K233T	ENSP00000322845:K233T	K	-	2	0	0	ZMYM3	70388146	70388146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.541000	0.28827	0.347000	0.21830	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	0	0	1		2	2	2	0		0	0	13		13	13	1	2.060000	-13.826830	1	0.170000	NM_201599			6	6		25	25	1		1	1		0	0	13	0		9.703426e-01	9.988776e-01	0	44	0	26	0	6	25
TAF1	6872	broad.mit.edu	37	X	70586298	70586298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000373790.4	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000449580.1_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S	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	45	Protein kinase 1.				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)			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)				CTTTTCGGCAACATCAATGGA	0.612																																						ENST00000373790.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(133-135)aAc>aGc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							34.0	34.0	34.0					X																	70586298		2203	4300	6503	SO:0001583	missense	6872	0	0					g.chrX:70586298A>G		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.134A>G	chrX.hg19:g.70586298A>G	ENSP00000362895:p.Asn45Ser						TAF1_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000449580.1_Missense_Mutation_p.N45S	p.N45S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	0	1	1		P21675	TAF1_HUMAN		1	185	+	Renal(35;0.156)	all_lung(315;0.000321)	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	1	1	hg19	c.134A>G	CCDS35325.1	1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836481	0.91117	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.49139	1.05;1.2;0.83;0.79	4.99	4.99	0.66335	4.99	4.99	0.66335	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.61697	0.897;0.99	P;D	0.63703	0.498;0.917	T	0.72364	-0.4316	10	0.87932	D	0	.	12.403	0.55424	1.0:0.0:0.0:0.0	.	45;45	P21675;P21675-2	TAF1_HUMAN;.	S	45	ENSP00000362895:N45S;ENSP00000389000:N45S;ENSP00000406549:N45S;ENSP00000276072:N45S	ENSP00000276072:N45S	N	+	2	0	0	TAF1	70503023	70503023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.385000	0.90163	1.790000	0.52503	0.414000	0.27820	AAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.612	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_004606			44	44		147	145	0		1	1		0	0	45	0		1	9.490266e-01	0	15	0	4	0	44	147
TAF1	6872	broad.mit.edu	37	X	70595105	70595105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000373790.4	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000449580.1_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N	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	167	Protein kinase 1.				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)			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)				GACCAATGAAGAAGGATAAGG	0.433																																						ENST00000373790.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				124						c.(499-501)aaG>aaT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							117.0	99.0	105.0					X																	70595105		2203	4300	6503	SO:0001583	missense	6872	0	0					g.chrX:70595105G>T		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.501G>T	chrX.hg19:g.70595105G>T	ENSP00000362895:p.Lys167Asn						TAF1_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000449580.1_Missense_Mutation_p.K167N	p.K167N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	0	1	1		P21675	TAF1_HUMAN		4	552	+	Renal(35;0.156)	all_lung(315;0.000321)	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	1	1	hg19	c.501G>T	CCDS35325.1	1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307933	0.40895	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.95;3.01;2.98;2.93	4.83	3.05	0.35203	4.83	3.05	0.35203	.	0.052619	0.85682	D	0.000000	T	0.08537	0.0212	L	0.39633	1.23	0.40498	D	0.980611	B;B	0.26258	0.039;0.145	B;B	0.21708	0.016;0.036	T	0.26710	-1.0095	10	0.27785	T	0.31	.	8.1709	0.31254	0.4141:0.0:0.5859:0.0	.	167;167	P21675;P21675-2	TAF1_HUMAN;.	N	167	ENSP00000362895:K167N;ENSP00000389000:K167N;ENSP00000406549:K167N;ENSP00000276072:K167N	ENSP00000276072:K167N	K	+	3	2	2	TAF1	70511830	70511830	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.794000	0.47853	0.406000	0.25560	0.429000	0.28392	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	1	0	1		2	2	2	0		0	0	68		68	67	1	2.060000	-20.000000	1	0.170000	NM_004606			61	61		260	246	1		1	1		0	0	68	0		1	9.980743e-01	0	16	0	27	0	61	260
OGT	8473	broad.mit.edu	37	X	70777093	70777093	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	457					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CACGGCTCTGAAACTTAAGCC	0.378																																						ENST00000373719.3	1.000000	0.900000	1	9.900000e-01	0.990000	0.994224	0.990000	1.000000																										0				43						c.(1369-1371)Aaa>Gaa		O-linked N-acetylglucosamine (GlcNAc) transferase							57.0	52.0	54.0					X																	70777093		2203	4300	6503	SO:0001583	missense	8473	0	0					g.chrX:70777093A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1369A>G	chrX.hg19:g.70777093A>G	ENSP00000362824:p.Lys457Glu						OGT_ENST00000373701.3_Missense_Mutation_p.K447E	p.K457E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	0	1	1		O15294	OGT1_HUMAN		11	1586	+	Renal(35;0.156)		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	1	1	hg19	c.1369A>G	CCDS14414.1	1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879038	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.04655	-0.195	0.80722	D	1	D;P;D	0.58620	0.983;0.615;0.966	D;B;P	0.64877	0.93;0.391;0.832	T	0.36744	-0.9735	10	0.16896	T	0.51	-38.1856	15.0385	0.71767	1.0:0.0:0.0:0.0	.	331;447;457	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	457;447	ENSP00000362824:K457E;ENSP00000362805:K447E	ENSP00000362805:K447E	K	+	1	0	0	OGT	70693818	70693818	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.266000	0.95659	1.934000	0.56057	0.481000	0.45027	AAA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	1	0	1		2	2	2	0		0	0	29		29	28	1	2.060000	-19.347040	1	0.170000	NM_003605, NM_181672			11	11		63	61	1		1	1		0	0	29	0		9.985576e-01	9.999541e-01	0	49	0	73	0	11	63
ACRC	93953	broad.mit.edu	37	X	70824397	70824397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	ENST00000373695.1	+	7	1807	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	ACRC_ENST00000373696.3_Missense_Mutation_p.P424S			Q96QF7	ACRC_HUMAN	acidic repeat containing	424	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTGGAGCCACCGAGGAAAAG	0.463																																						ENST00000373695.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999386	0.990000	1.000000																										0				54						c.(1270-1272)Ccg>Tcg		acidic repeat containing							60.0	43.0	49.0					X																	70824397		2201	4297	6498	SO:0001583	missense	93953	0	0					g.chrX:70824397C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1270C>T	chrX.hg19:g.70824397C>T	ENSP00000362799:p.Pro424Ser						ACRC_ENST00000373696.3_Missense_Mutation_p.P424S	p.P424S			0	1	1		Q96QF7	ACRC_HUMAN		7	1807	+	Renal(35;0.156)		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	0	1	hg19	c.1270C>T	CCDS35326.1	1	.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012026	0.07727	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30448	1.53;1.53	0.656	0.656	0.17844	0.656	0.656	0.17844	.	.	.	.	.	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	8	0.08179	T	0.78	.	.	.	.	.	424	Q96QF7	ACRC_HUMAN	S	424	ENSP00000362800:P424S;ENSP00000362799:P424S	ENSP00000362799:P424S	P	+	1	0	0	ACRC	70741122	70741122	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	-1.000000	0.03693	0.559000	0.29153	0.271000	0.19318	CCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.060000	-19.997560	1	0.170000				11	11		36	36	1		1	0		0	0	10	0		9.990064e-01	0	0	0	0	1	0	11	36
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488																																						ENST00000545866.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(1099-1101)aGg>aTg		retrotransposon gag domain containing 4							44.0	37.0	39.0					X																	71350291		2008	4162	6170	SO:0001583	missense	340526	0	0					g.chrX:71350291C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1100G>T	chrX.hg19:g.71350291C>A	ENSP00000441366:p.Arg367Met						NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	p.R367M	NM_001024455.3	NP_001019626.1	0	1	1		Q5HYW3	RGAG4_HUMAN		1	1467	-	Renal(35;0.156)		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	1	1	hg19	c.1100G>T	CCDS55446.1	1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	0	RGAG4	71267016	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	1	0	1		2	2	2	0		0	0	15		15	15	1	2.060000	-20.000000	1	0.170000	NM_001024455			32	29		85	81	0		1	1		0	0	15	0		1	9.985455e-01	0	2	0	29	0	32	85
RGAG4	340526	broad.mit.edu	37	X	71351008	71351008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	ENST00000545866.1	-	1	750	c.383C>T	c.(382-384)cCg>cTg	p.P128L	NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	128	Poly-Pro.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCGCCGGCGGGGGCGGGAT	0.672																																						ENST00000545866.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(382-384)cCg>cTg		retrotransposon gag domain containing 4							5.0	5.0	5.0					X																	71351008		1553	3539	5092	SO:0001583	missense	340526	0	0					g.chrX:71351008G>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.383C>T	chrX.hg19:g.71351008G>A	ENSP00000441366:p.Pro128Leu						NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L	p.P128L	NM_001024455.3	NP_001019626.1	0	1	1		Q5HYW3	RGAG4_HUMAN		1	750	-	Renal(35;0.156)		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	1	1	hg19	c.383C>T	CCDS55446.1	1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739485	0.03088	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12672	2.66;2.66	4.32	-2.01	0.07410	4.32	-2.01	0.07410	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42275	-0.9461	8	.	.	.	-0.0463	3.2472	0.06801	0.3953:0.0:0.2926:0.3121	.	128	Q5HYW3	RGAG4_HUMAN	L	128	ENSP00000441366:P128L;ENSP00000418667:P128L	.	P	-	2	0	0	RGAG4	71267733	71267733	0.040000	0.19996	0.000000	0.03702	0.015000	0.08874	-0.106000	0.10890	-0.650000	0.05423	-0.909000	0.02823	CCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.672	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	1	0	1		2	2	2	0		0	0	13		13	12	1	2.060000	-20.000000	1	0.170000	NM_001024455			26	26		63	59	0		1	0		0	0	13	0		1	2.145863e-01	0	0	0	3	0	26	63
NHSL2	340527	broad.mit.edu	37	X	71359770	71359770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q			Q5HYW2	NHSL2_HUMAN	NHS-like 2	425	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483																																						ENST00000373677.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				28						c.(1273-1275)cGa>cAa		NHS-like 2							101.0	79.0	86.0					X																	71359770		2203	4300	6503	SO:0001583	missense	340527	3	121408	31				g.chrX:71359770G>A			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.1274G>A	chrX.hg19:g.71359770G>A	ENSP00000362781:p.Arg425Gln						NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q	p.R425Q			0	1	1		Q5HYW2	NHSL2_HUMAN		2	2536	+	Renal(35;0.156)		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	1	1	hg19	c.1274G>A		1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268020	0.23136	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47177	1.46;0.87;0.85;0.87	5.93	4.02	0.46733	5.93	4.02	0.46733	.	0.336461	0.23211	N	0.050675	T	0.37210	0.0995	L	0.51422	1.61	0.27091	N	0.962858	B;B;B	0.21381	0.032;0.055;0.055	B;B;B	0.12837	0.008;0.008;0.008	T	0.36407	-0.9749	10	0.59425	D	0.04	-0.4929	4.5488	0.12098	0.2009:0.1782:0.6209:0.0	.	791;560;425	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	791;425;560;425	ENSP00000444617:R791Q;ENSP00000362781:R425Q;ENSP00000424079:R560Q;ENSP00000444914:R425Q	ENSP00000362781:R425Q	R	+	2	0	0	NHSL2	71276495	71276495	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	2.671000	0.46842	1.214000	0.43395	0.600000	0.82982	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-19.999980	1	0.170000	NM_001013627			35	35		114	111	1		1	0		0	0	31	0		1	8.081047e-01	0	1	0	11	0	35	114
NHSL2	340527	broad.mit.edu	37	X	71360063	71360063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	523										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547																																						ENST00000373677.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.993855	0.990000	1.000000																										0				28						c.(1567-1569)Cca>Tca		NHS-like 2							86.0	66.0	73.0					X																	71360063		2203	4300	6503	SO:0001583	missense	340527	0	0					g.chrX:71360063C>T			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.1567C>T	chrX.hg19:g.71360063C>T	ENSP00000362781:p.Pro523Ser						NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S	p.P523S			0	1	1		Q5HYW2	NHSL2_HUMAN		2	2829	+	Renal(35;0.156)		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	1	1	hg19	c.1567C>T		1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108197	0.20714	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47528	1.48;0.84;0.84;0.84	5.35	3.52	0.40303	5.35	3.52	0.40303	.	0.397307	0.22843	N	0.054947	T	0.41119	0.1145	L	0.59436	1.845	0.39895	D	0.973823	B;B;B	0.24426	0.061;0.103;0.061	B;B;B	0.23419	0.046;0.046;0.029	T	0.26538	-1.0100	10	0.36615	T	0.2	-1.8731	7.8044	0.29193	0.1603:0.7517:0.0:0.088	.	889;658;523	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	889;523;658;523	ENSP00000444617:P889S;ENSP00000362781:P523S;ENSP00000424079:P658S;ENSP00000444914:P523S	ENSP00000362781:P523S	P	+	1	0	0	NHSL2	71276788	71276788	1.000000	0.71417	0.931000	0.37212	0.720000	0.41350	1.944000	0.40263	0.677000	0.31305	0.600000	0.82982	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.547	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	1	0	1		2	2	2	0		0	0	67		67	67	1	2.060000	-11.700940	1	0.170000	NM_001013627			25	25		195	193	1		1	0		0	0	67	0		9.999999e-01	2.853929e-01	0	0	0	9	0	25	195
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					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.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577																																						ENST00000373517.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.A37V(1)	kidney(1)	29						c.(109-111)gCc>gTc		nucleosome assembly protein 1-like 2							55.0	51.0	52.0					X																	72434219		2203	4300	6503	SO:0001583	missense	4674	0	0					g.chrX:72434219G>A	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.110C>T	chrX.hg19:g.72434219G>A	ENSP00000362616:p.Ala37Val						NAP1L2_ENST00000536638.1_Intron	p.A37V	NM_021963.3	NP_068798.1	0	1	1		Q9ULW6	NP1L2_HUMAN		1	465	-	Renal(35;0.156)		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	1	1	hg19	c.110C>T	CCDS14423.1	1	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004577	0.02112	.	.	ENSG00000186462	ENST00000373517	D	0.91631	-2.88	3.1	1.25	0.21368	3.1	1.25	0.21368	.	0.493565	0.19867	N	0.104294	T	0.77384	0.4122	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61907	-0.6966	10	0.12766	T	0.61	0.241	4.486	0.11790	0.347:0.0:0.653:0.0	.	37	Q9ULW6	NP1L2_HUMAN	V	37	ENSP00000362616:A37V	ENSP00000362616:A37V	A	-	2	0	0	NAP1L2	72350944	72350944	0.686000	0.27661	0.001000	0.08648	0.199000	0.23934	0.186000	0.16978	0.187000	0.20147	0.600000	0.82982	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	0	0	1		17	2	2	1		1	1	68		68	68	1	2.060000	-20.000000	1	0.170000	NM_021963			82	80		281	266	1		1	0		1	0	68	0		1	6.391106e-01	0	0	0	9	0	82	281
CDX4	1046	broad.mit.edu	37	X	72667226	72667226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647																																						ENST00000373514.2	1.000000	0.620000	1	8.100000e-01	0.990000	0.933210	0.990000	1.000000																										0				18						c.(136-138)gCg>gTg		caudal type homeobox 4							41.0	37.0	38.0					X																	72667226		2203	4300	6503	SO:0001583	missense	1046	0	0					g.chrX:72667226C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.137C>T	chrX.hg19:g.72667226C>T	ENSP00000362613:p.Ala46Val							p.A46V	NM_005193.1	NP_005184.1	0	1	1		O14627	CDX4_HUMAN		1	137	+	Renal(35;0.156)		A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	1	1	hg19	c.137C>T	CCDS14424.1	1	.	.	.	.	.	.	.	.	.	.	.	3.372	-0.128297	0.06753	.	.	ENSG00000131264	ENST00000373514	T	0.48522	0.81	2.57	1.69	0.24217	2.57	1.69	0.24217	Caudal-like activation domain (1);	0.315565	0.30630	N	0.009220	T	0.37019	0.0988	L	0.41961	1.31	0.23162	N	0.9982	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	10	0.48119	T	0.1	-4.2406	9.9804	0.41811	0.0:0.8693:0.0:0.1307	.	46	O14627	CDX4_HUMAN	V	46	ENSP00000362613:A46V	ENSP00000362613:A46V	A	+	2	0	0	CDX4	72583951	72583951	0.988000	0.35896	0.003000	0.11579	0.005000	0.04900	4.335000	0.59298	0.078000	0.16900	-1.701000	0.00721	GCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	1	0	1		2	2	2	0		0	0	39		39	39	1	2.060000	-3.142733	1	0.170000	NM_005193			16	16		165	159	0		1			0	0	39	0		9.999295e-01	0	0	0	0	0	0	16	165
KIAA2022	340533	broad.mit.edu	37	X	73960434	73960434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1320					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)			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						ATGTTGGACAAGATATAGGAA	0.527																																						ENST00000055682.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(3958-3960)Ttg>Gtg		KIAA2022							114.0	107.0	109.0					X																	73960434		2203	4300	6503	SO:0001583	missense	340533	0	0					g.chrX:73960434A>C		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.3958T>G	chrX.hg19:g.73960434A>C	ENSP00000055682:p.Leu1320Val							p.L1320V	NM_001008537.2	NP_001008537.1	0	1	1		Q5QGS0	K2022_HUMAN		3	4569	-			A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	1	1	hg19	c.3958T>G	CCDS35337.1	1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672855	0.47781	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42900	0.96;0.96	5.55	4.39	0.52855	5.55	4.39	0.52855	.	0.078788	0.52532	D	0.000061	T	0.48187	0.1486	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.50808	-0.8784	10	0.87932	D	0	-4.7705	6.1117	0.20104	0.7472:0.0:0.2528:0.0	.	1320	Q5QGS0	K2022_HUMAN	V	1320	ENSP00000362567:L1320V;ENSP00000055682:L1320V	ENSP00000055682:L1320V	L	-	1	2	2	KIAA2022	73877159	73877159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.853000	0.53794	0.441000	0.28932	TTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.527	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	1	0	1		2	2	2	0		0	0	103		103	103	1	2.060000	-20.000000	1	0.170000	NM_001008537			106	104		326	320	1		1	0		0	0	103	0		1	0	0	0	0	1	0	106	326
KIAA2022	340533	broad.mit.edu	37	X	73964099	73964099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	98					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)			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						GAGGGAGATGGCATTCACAGA	0.517																																						ENST00000055682.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				109						c.(292-294)gCc>gAc		KIAA2022							104.0	93.0	97.0					X																	73964099		2203	4300	6503	SO:0001583	missense	340533	0	0					g.chrX:73964099G>T		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.293C>A	chrX.hg19:g.73964099G>T	ENSP00000055682:p.Ala98Asp							p.A98D	NM_001008537.2	NP_001008537.1	0	1	1		Q5QGS0	K2022_HUMAN		3	904	-			A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	1	1	hg19	c.293C>A	CCDS35337.1	1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112719	0.56398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.115622	0.56097	D	0.000021	T	0.55816	0.1944	L	0.44542	1.39	0.45662	D	0.998584	D	0.67145	0.996	P	0.62184	0.899	T	0.59059	-0.7525	10	0.87932	D	0	-8.8622	17.8486	0.88738	0.0:0.0:1.0:0.0	.	98	Q5QGS0	K2022_HUMAN	D	98	ENSP00000362567:A98D;ENSP00000055682:A98D	ENSP00000055682:A98D	A	-	2	0	0	KIAA2022	73880824	73880824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.403000	0.81681	0.600000	0.82982	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	1	0	1		2	2	2	0		0	0	105		105	104	1	2.060000	-20.000000	1	0.170000	NM_001008537			87	85		294	285	1		1	0		0	0	105	0		1	0	0	0	0	1	0	87	294
MAGEE2	139599	broad.mit.edu	37	X	75004464	75004464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	141	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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						TCAGGTTCAACCCAAAGACCT	0.517																																						ENST00000373359.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				34						c.(421-423)ggG>ggA		melanoma antigen family E, 2							32.0	28.0	30.0					X																	75004464		2203	4300	6503	SO:0001819	synonymous_variant	139599	0	0					g.chrX:75004464C>T	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.423G>A	chrX.hg19:g.75004464C>T								p.G141G	NM_138703.4	NP_619648.1	0	1	1		Q8TD90	MAGE2_HUMAN		1	615	-			Q5JSI5	Silent	SNP	ENST00000373359.2	1	1	hg19	c.423G>A	CCDS14431.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.517	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	1	0	1		2	2	2	0		0	0	30		30	30	1	2.060000	-20.000000	1	0.170000	NM_138703			25	25		85	84	1		1			0	0	30	0		9.999999e-01	0	0	0	0	0	0	25	85
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	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)				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						CTGCCTACACCTGGTGAGGGA	0.687																																						ENST00000361470.2	1.000000	0.810000	1	9.900000e-01	0.990000	0.987213	0.990000	1.000000																										0				51						c.(610-612)cCt>cTt		melanoma antigen family E, 1							24.0	20.0	21.0					X																	75648934		2197	4293	6490	SO:0001583	missense	57692	0	0					g.chrX:75648934C>T	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.611C>T	chrX.hg19:g.75648934C>T	ENSP00000354912:p.Pro204Leu							p.P204L	NM_020932.2	NP_065983.1	0	1	1		Q9HCI5	MAGE1_HUMAN		1	889	+			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	1	1	hg19	c.611C>T	CCDS14433.1	1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	0	MAGEE1	75565338	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	1	0	1		2	2	2	0		0	0	44		44	43	1	2.060000	-19.999990	1	0.170000	NM_020932			16	16		123	121	1		1	1		0	0	44	0		9.999453e-01	2.974569e-01	0	2	0	7	0	16	123
MAGEE1	57692	broad.mit.edu	37	X	75650590	75650590	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	756	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)				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						GTGCAGTTATTTCTGCTTATG	0.463																																						ENST00000361470.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				51						c.(2266-2268)tTt>tGt		melanoma antigen family E, 1							79.0	69.0	72.0					X																	75650590		2203	4300	6503	SO:0001583	missense	57692	0	0					g.chrX:75650590T>G	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.2267T>G	chrX.hg19:g.75650590T>G	ENSP00000354912:p.Phe756Cys							p.F756C	NM_020932.2	NP_065983.1	0	1	1		Q9HCI5	MAGE1_HUMAN		1	2545	+			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	1	1	hg19	c.2267T>G	CCDS14433.1	1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.787028	0.31593	.	.	ENSG00000198934	ENST00000361470	T	0.04970	3.52	2.52	1.24	0.21308	2.52	1.24	0.21308	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.20196	N	0.999928	D	0.76494	0.999	D	0.79108	0.992	T	0.25117	-1.0141	9	0.87932	D	0	.	4.0955	0.09988	0.3819:0.0:0.0:0.6181	.	756	Q9HCI5	MAGE1_HUMAN	C	756	ENSP00000354912:F756C	ENSP00000354912:F756C	F	+	2	0	0	MAGEE1	75566994	75566994	1.000000	0.71417	0.443000	0.26883	0.996000	0.88848	1.535000	0.36061	0.218000	0.20820	0.486000	0.48141	TTT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	1	0	1		2	2	2	0		0	0	92		92	91	1	2.060000	-20.000000	1	0.170000	NM_020932			81	81		263	258	1		1	1		0	0	92	0		1	8.111495e-01	0	4	0	8	0	81	263
ATRX	546	broad.mit.edu	37	X	76939224	76939224	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	508					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTCAGAAGTGTTGGCAGGTT	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		X	Xq21.1	Xq21.1	546	Mis, F, N	alpha thalassemia/mental retardation syndrome X-linked	yes	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E	E			Pancreatic neuroendocrine tumors, paediatric GBM		1	Unknown(1)	p.?(1)	bone(1)	145						c.(1522-1524)aaC>aaT		alpha thalassemia/mental retardation syndrome X-linked							211.0	212.0	212.0					X																	76939224		2203	4296	6499	SO:0001819	synonymous_variant	546	0	0					g.chrX:76939224G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1524C>T	chrX.hg19:g.76939224G>A							ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	p.N508N	NM_000489.3	NP_000480.3	0	1	1		P46100	ATRX_HUMAN		9	1738	-			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	1	1	hg19	c.1524C>T	CCDS14434.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	1	0	1		2	2	2	0		0	0	407		407	405	1	2.060000	-20.000000	1	0.170000	NM_000489			316	305		1112	1089	0		1	1		0	0	407	0		1	9.999823e-01	0	29	0	27	0	316	1112
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63	Thioredoxin.				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)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418																																						ENST00000373336.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				17						c.(187-189)cGc>cAc		magnesium transporter 1							234.0	214.0	221.0					X																	77131009		2203	4296	6499	SO:0001583	missense	84061	0	0					g.chrX:77131009C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.188G>A	chrX.hg19:g.77131009C>T	ENSP00000362433:p.Arg63His						MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H	p.R63H			0	1	1		Q9H0U3	MAGT1_HUMAN		2	217	-			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	1	1	hg19	c.188G>A		1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	0	MAGT1	77017665	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.418	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	1	0	1		2	2	2	0		0	0	225		225	224	1	2.060000	-20.000000	1	0.170000	NM_032121			194	192		567	557	1		1	1		0	0	225	0		1	1	0	188	0	167	0	194	567
ATP7A	538	broad.mit.edu	37	X	77244750	77244750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	211	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCAAGAAGCTACTATTGTT	0.338																																						ENST00000341514.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(631-633)gCt>gAt		ATPase, Cu++ transporting, alpha polypeptide	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)						34.0	36.0	35.0					X																	77244750		2203	4293	6496	SO:0001583	missense	538	0	0					g.chrX:77244750C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.632C>A	chrX.hg19:g.77244750C>A	ENSP00000345728:p.Ala211Asp						ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D	p.A211D	NM_000052.5	NP_000043.4	0	1	1		Q04656	ATP7A_HUMAN		4	787	+			B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	1	1	hg19	c.632C>A	CCDS35339.1	1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658389	0.67586	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.87809	-2.3;-2.3	4.68	4.68	0.58851	4.68	4.68	0.58851	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	U	0.000000	D	0.96571	0.8881	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98962	1.0798	10	0.87932	D	0	-4.844	17.0033	0.86386	0.0:1.0:0.0:0.0	.	211;221	Q04656;Q59HD1	ATP7A_HUMAN;.	D	211;211;211;221	ENSP00000343026:A211D;ENSP00000345728:A211D	ENSP00000345728:A211D	A	+	2	0	0	ATP7A	77131406	77131406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.081000	0.71309	1.933000	0.56026	0.515000	0.50301	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	1	0	1		2	2	2	0		0	0	52		52	52	1	2.060000	-20.000000	1	0.170000	NM_000052			47	46		172	169	1		1	1		0	0	52	0		1	7.165483e-01	0	7	0	4	0	47	172
ATP7A	538	broad.mit.edu	37	X	77289223	77289223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y|ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1139					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAATATAGAGGACAATAATAT	0.388																																						ENST00000341514.6	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				53						c.(3415-3417)Gac>Tac		ATPase, Cu++ transporting, alpha polypeptide	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)						123.0	115.0	118.0					X																	77289223		2203	4296	6499	SO:0001583	missense	538	0	0					g.chrX:77289223G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3415G>T	chrX.hg19:g.77289223G>T	ENSP00000345728:p.Asp1139Tyr						ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y	p.D1139Y	NM_000052.5	NP_000043.4	0	1	1		Q04656	ATP7A_HUMAN		17	3570	+			B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	1	1	hg19	c.3415G>T	CCDS35339.1	1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608886	0.46527	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97404	-3.97;-4.37;-3.99	5.27	5.27	0.74061	5.27	5.27	0.74061	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.171981	0.50627	D	0.000101	D	0.91905	0.7437	N	0.02011	-0.69	0.33534	D	0.593974	P	0.34864	0.473	B	0.42138	0.377	D	0.94682	0.7866	10	0.62326	D	0.03	-6.7771	13.8071	0.63238	0.0:0.1492:0.8508:0.0	.	1139	Q04656	ATP7A_HUMAN	Y	1061;142;1139	ENSP00000343026:D1061Y;ENSP00000343678:D142Y;ENSP00000345728:D1139Y	ENSP00000345728:D1139Y	D	+	1	0	0	ATP7A	77175879	77175879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.313000	0.78978	2.311000	0.77944	0.600000	0.82982	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	1	0	1		2	2	2	0		0	0	92		92	92	1	2.060000	-20.000000	1	0.170000	NM_000052			82	81		278	274	1		1	1		0	0	92	0		1	9.059178e-01	0	6	0	10	0	82	278
PGK1	5230	broad.mit.edu	37	X	77369532	77369532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	98					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GTTCTTGAAGGACTGTGTAGG	0.502																																						ENST00000373316.4	1.000000	0.710000	1	8.100000e-01	0.910000	0.908608	0.910000	1.000000																										0				24						c.(292-294)Gac>Tac		phosphoglycerate kinase 1	Lamivudine(DB00709)						123.0	126.0	125.0					X																	77369532		2203	4297	6500	SO:0001583	missense	5230	0	0					g.chrX:77369532G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.292G>T	chrX.hg19:g.77369532G>T	ENSP00000362413:p.Asp98Tyr						PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	p.D98Y	NM_000291.3	NP_000282.1	0	1	1		P00558	PGK1_HUMAN		4	459	+			A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	1	1	hg19	c.292G>T	CCDS14438.1	1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121848	0.77436	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.94184	-3.37;-3.37	4.98	4.98	0.66077	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.99838	4.83	0.58432	D	0.999999	P	0.48834	0.916	P	0.51974	0.686	D	0.99675	1.0997	10	0.87932	D	0	-12.4287	16.5542	0.84481	0.0:0.0:1.0:0.0	.	98	P00558	PGK1_HUMAN	Y	98;70	ENSP00000362413:D98Y;ENSP00000444708:D70Y	ENSP00000362413:D98Y	D	+	1	0	0	PGK1	77256188	77256188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.214000	0.95140	2.197000	0.70478	0.591000	0.81541	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1	0	0	1		14	40	2	1		1	1	222		222	221	1	2.060000	-14.469880	1	0.170000				65	64		767	745	1		1	1		1	0	222	0		1	1	0	1026	0	2107	0	65	767
PGK1	5230	broad.mit.edu	37	X	77369650	77369650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	137					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GATGCTTCTGGGAACAAGGTA	0.483																																						ENST00000373316.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(409-411)gGg>gAg		phosphoglycerate kinase 1	Lamivudine(DB00709)						135.0	144.0	141.0					X																	77369650		2203	4296	6499	SO:0001583	missense	5230	0	0					g.chrX:77369650G>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.410G>A	chrX.hg19:g.77369650G>A	ENSP00000362413:p.Gly137Glu						PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	p.G137E	NM_000291.3	NP_000282.1	0	1	1		P00558	PGK1_HUMAN		4	577	+			A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	1	1	hg19	c.410G>A	CCDS14438.1	1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.659388	0.88154	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92495	-3.05;-3.05	4.98	4.98	0.66077	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	N	0.01874	-0.695	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.92061	0.5656	10	0.72032	D	0.01	-11.2942	16.5542	0.84481	0.0:0.0:1.0:0.0	.	137	P00558	PGK1_HUMAN	E	137;109	ENSP00000362413:G137E;ENSP00000444708:G109E	ENSP00000362413:G137E	G	+	2	0	0	PGK1	77256306	77256306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.197000	0.70478	0.591000	0.81541	GGG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.483	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1	1	0	1		2	2	2	0		0	0	234		234	233	1	2.060000	-3.569006	1	0.170000				164	156		667	651	1		1	1		0	0	234	0		1	1	0	1978	0	1085	0	164	667
ZCCHC5	203430	broad.mit.edu	37	X	77913260	77913260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	220							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGAAGCTGCTGATGTCTCC	0.522																																						ENST00000321110.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				37						c.(658-660)Gca>Aca		zinc finger, CCHC domain containing 5							34.0	34.0	34.0					X																	77913260		2203	4300	6503	SO:0001583	missense	203430	3	121400	33				g.chrX:77913260C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.658G>A	chrX.hg19:g.77913260C>T	ENSP00000316794:p.Ala220Thr							p.A220T	NM_152694.2	NP_689907.1	0	1	1		Q8N8U3	ZCHC5_HUMAN		2	953	-			B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	1	1	hg19	c.658G>A	CCDS14440.1	1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207840	0.09704	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.03	1.04	0.20106	3.03	1.04	0.20106	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.43861	-0.9365	9	0.15066	T	0.55	.	6.2909	0.21059	0.0:0.6915:0.0:0.3085	.	220	Q8N8U3	ZCHC5_HUMAN	T	220	ENSP00000316794:A220T	ENSP00000316794:A220T	A	-	1	0	0	ZCCHC5	77799916	77799916	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.127000	0.18452	0.513000	0.50165	GCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.522	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	1	0	1		2	2	2	0		0	0	45		45	44	1	2.060000	-20.000000	1	0.170000	NM_152694			32	32		154	149	1		1	0		0	0	45	0		1	0	0	0	0	1	0	32	154
LPAR4	2846	broad.mit.edu	37	X	78010530	78010530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.3	+	2	550	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	55					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)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGGGTCTGATAACCAACAGT	0.383																																						ENST00000435339.3	0.400000	0.180000	3.500000e-01	2.300000e-01	0.280000	0.294128	0.280000	0.280000																										0				38						c.(163-165)aTa>aCa		lysophosphatidic acid receptor 4							368.0	294.0	319.0					X																	78010530		2203	4300	6503	SO:0001583	missense	2846	0	0					g.chrX:78010530T>C	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.164T>C	chrX.hg19:g.78010530T>C	ENSP00000408205:p.Ile55Thr							p.I55T	NM_005296.2	NP_005287.1	0	1	1		Q99677	LPAR4_HUMAN		2	550	+			B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	1	1	hg19	c.164T>C	CCDS14441.1	0	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315324	0.23908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38722	1.12;1.12	4.32	4.32	0.51571	4.32	4.32	0.51571	.	0.128566	0.51477	D	0.000089	T	0.29783	0.0744	L	0.34521	1.04	0.44006	D	0.996714	P	0.38048	0.616	B	0.33454	0.164	T	0.11470	-1.0586	10	0.45353	T	0.12	.	11.575	0.50856	0.0:0.0:0.0:1.0	.	55	Q99677	LPAR4_HUMAN	T	55	ENSP00000408205:I55T;ENSP00000362398:I55T	ENSP00000362398:I55T	I	+	2	0	0	LPAR4	77897186	77897186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.592000	0.61027	1.609000	0.50190	0.345000	0.21793	ATA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.383	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	0	0	1		2	2	2	0		0	0	279		279	276	1	2.060000	-18.973430	1	0.170000	NM_005296			27	28		1086	1062	0		1			0	0	279	0		9.999999e-01	0	0	0	0	0	0	27	1086
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000435339.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.R145Q(1)	large_intestine(1)	38						c.(433-435)cGa>cAa		lysophosphatidic acid receptor 4							216.0	147.0	170.0					X																	78010800		2203	4300	6503	SO:0001583	missense	2846	0	0					g.chrX:78010800G>A	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	chrX.hg19:g.78010800G>A	ENSP00000408205:p.Arg145Gln							p.R145Q	NM_005296.2	NP_005287.1	0	1	1		Q99677	LPAR4_HUMAN		2	820	+			B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	1	1	hg19	c.434G>A	CCDS14441.1	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	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	0	LPAR4	77897456	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	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	1	0	1		2	2	2	0		0	0	102		102	102	1	2.060000	-4.255336	1	0.170000	NM_005296			104	101		360	352	1		1	0		0	0	102	0		1	5.114373e-02	0	0	0	2	0	104	360
TBX22	50945	broad.mit.edu	37	X	79286360	79286360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000373294.5	+	8	1341	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	438					multicellular organismal development (GO:0007275)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAGCACCTAATTCTACCAAT	0.428																																						ENST00000373294.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				65						c.(1312-1314)aAt>aGt		T-box 22							133.0	125.0	128.0					X																	79286360		2203	4300	6503	SO:0001583	missense	50945	0	0					g.chrX:79286360A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1313A>G	chrX.hg19:g.79286360A>G	ENSP00000362390:p.Asn438Ser						TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S	p.N438S	NM_016954.2	NP_058650.1	0	1	1		Q9Y458	TBX22_HUMAN		8	1341	+			Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	1	1	hg19	c.1313A>G	CCDS14445.1	1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.381000	0.01204	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.99	2.81	0.32909	3.99	2.81	0.32909	.	7739.210000	0.00166	N	0.000000	T	0.61578	0.2358	L	0.31664	0.95	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.49844	-0.8896	10	0.02654	T	1	.	0.9104	0.01293	0.4871:0.2026:0.1112:0.199	.	438	Q9Y458	TBX22_HUMAN	S	438;318;438;318	ENSP00000362393:N438S;ENSP00000396394:N318S;ENSP00000362390:N438S;ENSP00000362388:N318S	ENSP00000362388:N318S	N	+	2	0	0	TBX22	79173016	79173016	0.983000	0.35010	0.107000	0.21349	0.001000	0.01503	1.172000	0.31908	0.431000	0.26258	-0.804000	0.03201	AAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	0	0	1		2	2	2	0		0	0	121		121	121	1	2.060000	-20.000000	1	0.170000	NM_016954			166	163		509	500	1		1			0	0	121	0		1	0	0	0	0	0	0	166	509
FAM46D	169966	broad.mit.edu	37	X	79699097	79699097	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000308293.5	+	3	1298	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000538312.1_Silent_p.P353P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453																																						ENST00000308293.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1057-1059)ccG>ccA		family with sequence similarity 46, member D							73.0	64.0	67.0					X																	79699097		2203	4298	6501	SO:0001819	synonymous_variant	169966	5	121382	35				g.chrX:79699097G>A	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.1059G>A	chrX.hg19:g.79699097G>A							FAM46D_ENST00000538312.1_Silent_p.P353P	p.P353P	NM_152630.4	NP_689843.1	0	1	1		Q8NEK8	FA46D_HUMAN		3	1298	+			B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	1	1	hg19	c.1059G>A	CCDS14446.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.453	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	1	0	1		2	2	2	0		0	0	53		53	53	1	2.060000	-20.000000	1	0.170000	NM_152630			59	57		206	200	1		1			0	0	53	0		1	0	0	0	0	0	0	59	206
BRWD3	254065	broad.mit.edu	37	X	79932615	79932615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393																																						ENST00000373275.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(4900-4902)gaT>gaG		bromodomain and WD repeat domain containing 3							235.0	216.0	222.0					X																	79932615		2203	4300	6503	SO:0001583	missense	254065	0	0					g.chrX:79932615A>C		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.4902T>G	chrX.hg19:g.79932615A>C	ENSP00000362372:p.Asp1634Glu						BRWD3_ENST00000473691.1_5'Flank	p.D1634E	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		41	5118	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	1	1	hg19	c.4902T>G	CCDS14447.1	1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351176	0.41700	.	.	ENSG00000165288	ENST00000373275	T	0.74209	-0.82	4.43	3.27	0.37495	4.43	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.30011	N	0.815203	D	0.61697	0.99	P	0.48488	0.579	T	0.55256	-0.8169	9	.	.	.	-12.3016	7.5138	0.27590	0.8194:0.0:0.1806:0.0	.	1634	Q6RI45	BRWD3_HUMAN	E	1634	ENSP00000362372:D1634E	.	D	-	3	2	2	BRWD3	79819271	79819271	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.931000	0.63469	0.575000	0.29434	-0.448000	0.05591	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1		2	2	2	0		0	0	230		230	225	1	2.060000	-20.000000	1	0.170000	NM_153252			246	235		802	775	1		1	1		0	0	230	0		1	9.977366e-01	0	20	0	12	0	246	802
BRWD3	254065	broad.mit.edu	37	X	79932771	79932771	+	Missense_Mutation	SNP	A	A	C	rs369153163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1582					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403																																						ENST00000373275.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(4744-4746)gaT>gaG		bromodomain and WD repeat domain containing 3							47.0	42.0	43.0					X																	79932771		2203	4300	6503	SO:0001583	missense	254065	0	0					g.chrX:79932771A>C		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.4746T>G	chrX.hg19:g.79932771A>C	ENSP00000362372:p.Asp1582Glu						BRWD3_ENST00000473691.1_5'UTR	p.D1582E	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		41	4962	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	1	1	hg19	c.4746T>G	CCDS14447.1	1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.005016	0.07866	.	.	ENSG00000165288	ENST00000373275	T	0.52057	0.68	4.28	1.79	0.24919	4.28	1.79	0.24919	.	0.533748	0.18881	N	0.128578	T	0.27454	0.0674	N	0.22421	0.69	0.26157	N	0.980056	B	0.11235	0.004	B	0.10450	0.005	T	0.16041	-1.0416	9	.	.	.	-7.9796	5.2779	0.15659	0.7522:0.0:0.0889:0.1589	.	1582	Q6RI45	BRWD3_HUMAN	E	1582	ENSP00000362372:D1582E	.	D	-	3	2	2	BRWD3	79819427	79819427	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.614000	0.24314	0.074000	0.16767	0.412000	0.27726	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1		2	2	2	0		0	0	58		58	58	1	2.060000	-20.000000	1	0.170000	NM_153252			68	68		194	190	1		1	1		0	0	58	0		1	9.915490e-01	0	11	0	13	0	68	194
BRWD3	254065	broad.mit.edu	37	X	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1240					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1240*(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						CCAATAAATCGAAGTAAGACA	0.299																																						ENST00000373275.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R1240*(1)	endometrium(1)	87						c.(3718-3720)Cga>Tga		bromodomain and WD repeat domain containing 3							83.0	70.0	74.0					X																	79945476		2203	4300	6503	SO:0001587	stop_gained	254065	0	0					g.chrX:79945476G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3718C>T	chrX.hg19:g.79945476G>A	ENSP00000362372:p.Arg1240*						BRWD3_ENST00000473691.1_5'UTR	p.R1240*	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		32	3934	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	0	1	hg19	c.3718C>T	CCDS14447.1	1	.	.	.	.	.	.	.	.	.	.	G	44	11.213710	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.44	3.55	0.40652	4.44	3.55	0.40652	.	0.112392	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.701	13.0163	0.58759	0.0:0.0:0.8376:0.1624	.	.	.	.	X	1240	.	.	R	-	1	2	2	BRWD3	79832132	79832132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.343000	0.79319	0.932000	0.37266	0.594000	0.82650	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1		2	2	2	0		0	0	44		44	44	1	2.060000	-3.789039	1	0.170000	NM_153252			36	36		135	132	1		1	1		0	0	44	0		1	8.235813e-01	0	5	0	9	0	36	135
BRWD3	254065	broad.mit.edu	37	X	79979292	79979292	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	535					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373																																						ENST00000373275.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				87						c.(1603-1605)ggA>ggG		bromodomain and WD repeat domain containing 3							93.0	83.0	86.0					X																	79979292		2203	4300	6503	SO:0001819	synonymous_variant	254065	0	0					g.chrX:79979292T>C		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.1605A>G	chrX.hg19:g.79979292T>C							BRWD3_ENST00000473691.1_5'Flank	p.G535G	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		16	1821	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	1	1	hg19	c.1605A>G	CCDS14447.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1		2	2	2	0		0	0	61		61	61	1	2.060000	-20.000000	1	0.170000	NM_153252			61	60		190	188	1		1	1		0	0	61	0		1	7.864490e-01	0	3	0	8	0	61	190
CYLC1	1538	broad.mit.edu	37	X	83128385	83128385	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	223					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)			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						CAAAGAAAGATTTGAAGAGGT	0.328																																						ENST00000329312.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				58						c.(667-669)gaT>gaG		cylicin, basic protein of sperm head cytoskeleton 1							28.0	26.0	27.0					X																	83128385		2195	4284	6479	SO:0001583	missense	1538	0	0					g.chrX:83128385T>G	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.669T>G	chrX.hg19:g.83128385T>G	ENSP00000331556:p.Asp223Glu							p.D223E	NM_021118.1	NP_066941.1	0	1	1		P35663	CYLC1_HUMAN		4	706	+			A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	1	1	hg19	c.669T>G	CCDS35341.1	1	.	.	.	.	.	.	.	.	.	.	t	9.934	1.215624	0.22373	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.21	-0.44	0.12261	3.21	-0.44	0.12261	.	.	.	.	.	T	0.47746	0.1462	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.42413	-0.9453	9	0.06891	T	0.86	-0.0289	5.5428	0.17047	0.0:0.4965:0.0:0.5035	.	223;223	P35663;F5H4V5	CYLC1_HUMAN;.	E	223	ENSP00000331556:D223E	ENSP00000331556:D223E	D	+	3	2	2	CYLC1	83015041	83015041	0.067000	0.21026	0.003000	0.11579	0.010000	0.07245	-0.100000	0.10990	-0.034000	0.13713	0.417000	0.27973	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1		2	2	2	0		0	0	43		43	42	1	2.060000	-20.000000	1	0.170000	NM_021118			33	33		110	108	1		1			0	0	43	0		1	0	0	0	0	0	0	33	110
CYLC1	1538	broad.mit.edu	37	X	83128818	83128818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128818G>A	ENST00000329312.4	+	4	1139	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	368					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)			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						gaaGTACCCAGAGTCTACTGA	0.343																																						ENST00000329312.4	1.000000	0.250000	8.600000e-01	4.000000e-01	0.600000	0.631592	0.600000	1.000000																										0				58						c.(1102-1104)Gag>Aag		cylicin, basic protein of sperm head cytoskeleton 1							34.0	31.0	32.0					X																	83128818		2189	4291	6480	SO:0001583	missense	1538	0	0					g.chrX:83128818G>A	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.1102G>A	chrX.hg19:g.83128818G>A	ENSP00000331556:p.Glu368Lys							p.E368K	NM_021118.1	NP_066941.1	0	1	1		P35663	CYLC1_HUMAN		4	1139	+			A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	0	1	hg19	c.1102G>A	CCDS35341.1	0	.	.	.	.	.	.	.	.	.	.	g	6.577	0.474736	0.12521	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.25749	1.78	4.18	2.32	0.28847	4.18	2.32	0.28847	.	.	.	.	.	T	0.14356	0.0347	L	0.43923	1.385	0.09310	N	1	P;P	0.46512	0.879;0.764	B;B	0.37144	0.242;0.173	T	0.10200	-1.0640	9	0.07990	T	0.79	.	4.2204	0.10554	0.1255:0.0:0.6479:0.2266	.	368;368	P35663;F5H4V5	CYLC1_HUMAN;.	K	368	ENSP00000331556:E368K	ENSP00000331556:E368K	E	+	1	0	0	CYLC1	83015474	83015474	0.267000	0.24122	0.001000	0.08648	0.566000	0.35808	3.563000	0.53784	0.325000	0.23359	0.556000	0.70494	GAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	0	0	1		2	2	2	0		0	0	23		23	23	1	2.060000	-9.883958	1	0.170000	NM_021118			6	6		115	112	0		1			0	0	23	0		9.634566e-01	0	0	0	0	0	0	6	115
CYLC1	1538	broad.mit.edu	37	X	83129557	83129557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83129557C>A	ENST00000329312.4	+	4	1878	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	614	Pro-rich.				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)			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						GCTTGTGAGCCTTCTCTACCA	0.433																																						ENST00000329312.4	1.000000	0.420000	9.400000e-01	5.600000e-01	0.730000	0.748350	0.730000	1.000000																										0				58						c.(1840-1842)cCt>cAt		cylicin, basic protein of sperm head cytoskeleton 1							72.0	61.0	65.0					X																	83129557		2203	4299	6502	SO:0001583	missense	1538	0	0					g.chrX:83129557C>A	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.1841C>A	chrX.hg19:g.83129557C>A	ENSP00000331556:p.Pro614His							p.P614H	NM_021118.1	NP_066941.1	0	1	1		P35663	CYLC1_HUMAN		4	1878	+			A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	1	1	hg19	c.1841C>A	CCDS35341.1	0	.	.	.	.	.	.	.	.	.	.	c	2.564	-0.301113	0.05495	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.68479	-0.33	3.48	1.69	0.24217	3.48	1.69	0.24217	.	.	.	.	.	T	0.66117	0.2757	L	0.34521	1.04	0.09310	N	1	D;D	0.63880	0.991;0.993	D;P	0.64321	0.924;0.895	T	0.53570	-0.8420	9	0.72032	D	0.01	0.7557	3.5984	0.08014	0.2457:0.6184:0.0:0.1359	.	614;614	P35663;F5H4V5	CYLC1_HUMAN;.	H	614	ENSP00000331556:P614H	ENSP00000331556:P614H	P	+	2	0	0	CYLC1	83016213	83016213	0.253000	0.23982	0.178000	0.23040	0.048000	0.14542	1.052000	0.30429	0.320000	0.23234	-0.276000	0.10085	CCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1		2	2	2	0		0	0	61		61	60	1	2.060000	-17.500070	1	0.170000	NM_021118			14	14		211	210	0		1			0	0	61	0		9.997759e-01	0	0	0	0	0	0	14	211
HDX	139324	broad.mit.edu	37	X	83724000	83724000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000373177.2_Missense_Mutation_p.C244Y|HDX_ENST00000506585.2_Missense_Mutation_p.C186Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	244						nucleus (GO:0005634)	DNA binding (GO:0003677)			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						CTTTTGCCCACATAAGTTATG	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				48						c.(730-732)tGt>tAt		highly divergent homeobox							105.0	95.0	98.0					X																	83724000		2203	4300	6503	SO:0001583	missense	139324	0	0					g.chrX:83724000C>T	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.731G>A	chrX.hg19:g.83724000C>T	ENSP00000297977:p.Cys244Tyr						HDX_ENST00000373177.2_Missense_Mutation_p.C244Y|HDX_ENST00000506585.2_Missense_Mutation_p.C186Y	p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	0	1	1		Q7Z353	HDX_HUMAN		3	842	-			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	1	1	hg19	c.731G>A	CCDS35342.1	1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449416	0.01080	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.46819	1.49;1.47;1.49;0.86	4.92	0.521	0.17046	4.92	0.521	0.17046	.	0.497395	0.22711	N	0.056571	T	0.32436	0.0829	L	0.36672	1.1	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.52906	T	0.07	-4.1839	6.6564	0.22990	0.0:0.5189:0.1906:0.2904	.	244	Q7Z353	HDX_HUMAN	Y	244;186;244;186	ENSP00000297977:C244Y;ENSP00000362272:C186Y;ENSP00000423670:C244Y;ENSP00000387790:C186Y	ENSP00000297977:C244Y	C	-	2	0	0	HDX	83610656	83610656	0.967000	0.33354	0.938000	0.37757	0.539000	0.34962	0.444000	0.21661	0.133000	0.18654	-0.273000	0.10243	TGT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	1	0	1		2	2	2	0		0	0	147		147	147	1	2.060000	-20.000000	1	0.170000	NM_144657			146	144		463	455	1		1	0		0	0	147	0		1	5.293979e-01	0	0	0	7	0	146	463
HDX	139324	broad.mit.edu	37	X	83724135	83724135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000373177.2_Missense_Mutation_p.N199T|HDX_ENST00000506585.2_Missense_Mutation_p.N141T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	199						nucleus (GO:0005634)	DNA binding (GO:0003677)			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						TACTGAAGAGTTTCCATAGTT	0.388																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5	0.800000	0.410000	7.000000e-01	4.900000e-01	0.580000	0.599175	0.580000	0.580000																										0				48						c.(595-597)aAc>aCc		highly divergent homeobox							138.0	123.0	128.0					X																	83724135		2203	4300	6503	SO:0001583	missense	139324	0	0					g.chrX:83724135T>G	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.596A>C	chrX.hg19:g.83724135T>G	ENSP00000297977:p.Asn199Thr						HDX_ENST00000373177.2_Missense_Mutation_p.N199T|HDX_ENST00000506585.2_Missense_Mutation_p.N141T	p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	0	1	1		Q7Z353	HDX_HUMAN		3	707	-			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	1	1	hg19	c.596A>C	CCDS35342.1	0	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330907	0.01298	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41400	1.55;1.6;1.55;1.0	4.9	2.82	0.32997	4.9	2.82	0.32997	.	0.459886	0.24970	N	0.034148	T	0.17831	0.0428	N	0.14661	0.345	0.20873	N	0.999837	B	0.17038	0.02	B	0.14023	0.01	T	0.30563	-0.9974	10	0.05351	T	0.99	-25.6574	4.4455	0.11595	0.1664:0.6086:0.0:0.225	.	199	Q7Z353	HDX_HUMAN	T	199;141;199;141	ENSP00000297977:N199T;ENSP00000362272:N141T;ENSP00000423670:N199T;ENSP00000387790:N141T	ENSP00000297977:N199T	N	-	2	0	0	HDX	83610791	83610791	0.997000	0.39634	0.977000	0.42913	0.983000	0.72400	0.835000	0.27531	0.380000	0.24823	-0.502000	0.04539	AAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	0	0	1		2	2	2	0		0	0	120		120	119	1	2.060000	-5.706053	1	0.170000	NM_144657			32	31		609	591	0		1	0		0	0	120	0		1	0	0	0	0	1	0	32	609
SATL1	340562	broad.mit.edu	37	X	84363222	84363222	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000395409.3	-	1	752	c.192A>G	c.(190-192)tcA>tcG	p.S64S	SATL1_ENST00000332921.5_Silent_p.S64S|SATL1_ENST00000509231.1_Silent_p.S251S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	64	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463																																						ENST00000395409.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				29						c.(190-192)tcA>tcG		spermidine/spermine N1-acetyl transferase-like 1							370.0	289.0	316.0					X																	84363222		2203	4300	6503	SO:0001819	synonymous_variant	340562	0	0					g.chrX:84363222T>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.192A>G	chrX.hg19:g.84363222T>C							SATL1_ENST00000332921.5_Silent_p.S64S|SATL1_ENST00000509231.1_Silent_p.S251S	p.S64S			0	1	1		Q86VE3	SATL1_HUMAN		1	752	-			A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	1	1	hg19	c.192A>G		1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	178		178	177	1	2.060000	-20.000000	1	0.170000	XM_291339			173	172		617	598	1		1			0	0	178	0		1	0	0	0	0	0	0	173	617
DACH2	117154	broad.mit.edu	37	X	85950138	85950138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373125.4	+	5	887	c.887C>T	c.(886-888)gCt>gTt	p.A296V	DACH2_ENST00000510272.1_Missense_Mutation_p.A77V|DACH2_ENST00000373131.1_Missense_Mutation_p.A283V|DACH2_ENST00000508860.1_Missense_Mutation_p.A129V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					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)			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						ATTGGGGGTGCTCCAACCCTC	0.498																																						ENST00000373125.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999556	0.990000	1.000000																										0				71						c.(886-888)gCt>gTt		dachshund family transcription factor 2							63.0	47.0	53.0					X																	85950138		2203	4300	6503	SO:0001583	missense	117154	1	120996	25				g.chrX:85950138C>T	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.887C>T	chrX.hg19:g.85950138C>T	ENSP00000362217:p.Ala296Val						DACH2_ENST00000373131.1_Missense_Mutation_p.A283V|DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V	p.A296V	NM_053281.3	NP_444511.1	0	1	1		Q96NX9	DACH2_HUMAN		5	887	+			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	1	1	hg19	c.887C>T	CCDS14455.1	1	.	.	.	.	.	.	.	.	.	.	c	9.268	1.045024	0.19748	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83250	-1.7;-1.7	4.99	4.12	0.48240	4.99	4.12	0.48240	.	0.399373	0.23832	N	0.044125	T	0.68220	0.2977	N	0.19112	0.55	0.25362	N	0.98878	B;P;P	0.43094	0.323;0.799;0.514	B;B;B	0.36567	0.079;0.228;0.077	T	0.57254	-0.7843	10	0.17832	T	0.49	.	12.8008	0.57584	0.0:0.918:0.0:0.082	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	296;283;296;129;77;129	ENSP00000362223:A283V;ENSP00000362217:A296V	ENSP00000345134:A296V	A	+	2	0	0	DACH2	85836794	85836794	0.999000	0.42202	0.021000	0.16686	0.004000	0.04260	3.625000	0.54238	0.885000	0.36088	0.509000	0.49947	GCT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	1	0	1		2	2	2	0		0	0	16		16	16	1	2.060000	-20.000000	1	0.170000	NM_053281			19	19		99	95	1		1			0	0	16	0		9.999927e-01	0	0	0	0	0	0	19	99
DACH2	117154	broad.mit.edu	37	X	85969592	85969592	+	Missense_Mutation	SNP	C	C	A	rs267606524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373125.4	+	6	973	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DACH2_ENST00000510272.1_Missense_Mutation_p.P106T|DACH2_ENST00000373131.1_Missense_Mutation_p.P312T|DACH2_ENST00000508860.1_Missense_Mutation_p.P158T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	325					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)			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						TCCCCTACTTCCAGTCAGCTT	0.413																																						ENST00000373125.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				71						c.(973-975)Cca>Aca		dachshund family transcription factor 2							193.0	158.0	170.0					X																	85969592		2203	4300	6503	SO:0001583	missense	117154	0	0					g.chrX:85969592C>A	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.973C>A	chrX.hg19:g.85969592C>A	ENSP00000362217:p.Pro325Thr						DACH2_ENST00000373131.1_Missense_Mutation_p.P312T|DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T	p.P325T	NM_053281.3	NP_444511.1	0	1	1		Q96NX9	DACH2_HUMAN		6	973	+			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	1	1	hg19	c.973C>A	CCDS14455.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212561	0.79240	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85171	-1.94;-1.95	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.91314	0.7261	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.982;0.999;0.999	D	0.92218	0.5782	10	0.66056	D	0.02	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	191;325;312;325	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	325;312;325;158;106;158	ENSP00000362223:P312T;ENSP00000362217:P325T	ENSP00000345134:P325T	P	+	1	0	0	DACH2	85856248	85856248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.079000	0.62486	0.513000	0.50165	CCA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	1	0	1		2	2	2	0		0	0	164		164	163	1	2.060000	-5.065090	1	0.170000	NM_053281			169	164		554	541	1		1	0		0	0	164	0		1	0	0	0	0	1	0	169	554
CPXCR1	53336	broad.mit.edu	37	X	88008738	88008738	+	Missense_Mutation	SNP	A	A	C	rs188296152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	108							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403																																						ENST00000276127.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(322-324)gAt>gCt		CPX chromosome region, candidate 1							39.0	35.0	37.0					X																	88008738		2203	4300	6503	SO:0001583	missense	53336	0	0					g.chrX:88008738A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.323A>C	chrX.hg19:g.88008738A>C	ENSP00000276127:p.Asp108Ala						CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	p.D108A	NM_033048.5	NP_149037	0	1	1		Q8N123	CPXCR_HUMAN		3	582	+			B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	1	1	hg19	c.323A>C	CCDS14458.1	1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109664	0.37242	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.38240	1.15;1.15	2.97	2.97	0.34412	2.97	2.97	0.34412	.	0.445051	0.16599	N	0.207428	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.04664	-1.0935	9	.	.	.	-5.2427	6.8618	0.24072	1.0:0.0:0.0:0.0	.	108	Q8N123	CPXCR_HUMAN	A	108	ENSP00000276127:D108A;ENSP00000362203:D108A	.	D	+	2	0	0	CPXCR1	87895394	87895394	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	2.016000	0.40971	1.423000	0.47198	0.481000	0.45027	GAT	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.403	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	1	0	1		2	2	2	0		0	0	33		33	33	1	2.060000	-20.000000	1	0.170000	NM_033048			35	34		111	110	1		1			0	0	33	0		1	0	0	0	0	0	0	35	111
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572																																						ENST00000561129.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				40						c.(565-567)cCg>cTg		TGFB-induced factor homeobox 2-like, X-linked							70.0	75.0	74.0					X																	89177650		2203	4300	6503	SO:0001583	missense	90316	0	0					g.chrX:89177650C>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.566C>T	chrX.hg19:g.89177650C>T	ENSP00000453704:p.Pro189Leu						TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L	p.P189L			0	1	1		Q8IUE1	TF2LX_HUMAN		1	696	+			Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	1	1	hg19	c.566C>T	CCDS14459.1	1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147126	0.09134	.	.	ENSG00000153779	ENST00000283891	T	0.61392	0.11	2.95	0.0758	0.14400	2.95	0.0758	0.14400	.	.	.	.	.	T	0.46054	0.1373	M	0.76574	2.34	0.09310	N	1	B	0.33238	0.403	B	0.18871	0.023	T	0.36792	-0.9733	8	.	.	.	-5.0317	2.3044	0.04170	0.244:0.457:0.0:0.2989	.	189	Q8IUE1	TF2LX_HUMAN	L	189	ENSP00000355119:P189L	.	P	+	2	0	0	TGIF2LX	89064306	89064306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.009000	0.12765	-0.101000	0.12219	0.506000	0.49869	CCG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.572	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	1	0	1		2	2	2	0		0	0	78		78	77	1	2.060000	-3.807514	1	0.170000	NM_138960			56	55		211	207	1		1			0	0	78	0		1	0	0	0	0	0	0	56	211
PABPC5	140886	broad.mit.edu	37	X	90691094	90691094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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						CTCAACAACCGCCAGGTGTAT	0.498																																						ENST00000312600.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(517-519)cGc>cAc		poly(A) binding protein, cytoplasmic 5							38.0	36.0	37.0					X																	90691094		2203	4300	6503	SO:0001583	missense	140886	0	0					g.chrX:90691094G>A	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.518G>A	chrX.hg19:g.90691094G>A	ENSP00000308012:p.Arg173His						PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H|PABPC5-AS1_ENST00000456187.1_RNA	p.R173H	NM_080832.2	NP_543022.1	0	1	1		Q96DU9	PABP5_HUMAN		2	732	+			A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	1	1	hg19	c.518G>A	CCDS14460.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059164	0.55325	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.94;2.1	4.29	4.29	0.51040	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67569	2.06	0.58432	D	0.999999	D	0.69078	0.997	P	0.50934	0.654	T	0.15235	-1.0444	10	0.66056	D	0.02	.	13.6186	0.62123	0.0:0.0:1.0:0.0	.	173	Q96DU9	PABP5_HUMAN	H	9;173;141	ENSP00000362197:R9H;ENSP00000308012:R173H	ENSP00000308012:R173H	R	+	2	0	0	PABPC5	90577750	90577750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.382000	0.81193	0.600000	0.82982	CGC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	1	0	1		2	2	2	0		0	0	66		66	66	1	2.060000	-20.000000	1	0.170000	NM_080832			74	74		206	203	1		1	0		0	0	66	0		1	4.999992e-01	0	0	0	6	0	74	206
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(226-228)Cga>Tga		protocadherin 11 X-linked							196.0	163.0	174.0					X																	91090729		2203	4300	6503	SO:0001587	stop_gained	27328	0	0					g.chrX:91090729C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.226C>T	chrX.hg19:g.91090729C>T	ENSP00000362186:p.Arg76*						PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*	p.R76*	NM_032968.3	NP_116750.1	0	1	1		Q9BZA7	PC11X_HUMAN		1	1071	+			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	0	1	hg19	c.226C>T	CCDS14461.1	1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	2	PCDH11X	90977385	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	1		14	2	2	0		0	1	171		171	174	1	2.060000	-20.000000	1	0.170000	NM_032969			167	162		468	452	1		1			0	0	171	0		1	0	0	0	0	0	0	167	468
PCDH11X	27328	broad.mit.edu	37	X	91133466	91133466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	ENST00000373094.1	+	2	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGTTACAGACCTTGGTTT	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1	0.660000	0.260000	5.600000e-01	3.400000e-01	0.440000	0.456431	0.440000	0.440000																										0				159						c.(2227-2229)Gac>Aac		protocadherin 11 X-linked							72.0	62.0	66.0					X																	91133466		2202	4279	6481	SO:0001583	missense	27328	0	0					g.chrX:91133466G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2227G>A	chrX.hg19:g.91133466G>A	ENSP00000362186:p.Asp743Asn						PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N	p.D743N	NM_032968.3	NP_116750.1	0	1	1		Q9BZA7	PC11X_HUMAN		2	3072	+			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	0	1	hg19	c.2227G>A	CCDS14461.1	0	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654637	0.29425	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.0	5.0	0.66597	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.62723	1.935	0.43942	D	0.9966	D;P;D;D;D;D;D;D	0.89917	1.0;0.918;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.97110	0.999;0.882;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69109	-0.5232	10	0.56958	D	0.05	.	16.3137	0.82906	0.0:0.0:1.0:0.0	.	743;743;743;743;743;743;743;743	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	743	ENSP00000378746:D743N;ENSP00000362186:D743N;ENSP00000362189:D743N;ENSP00000355040:D743N;ENSP00000362180:D743N;ENSP00000423762:D743N;ENSP00000355105:D743N;ENSP00000384758:D743N;ENSP00000298274:D743N	ENSP00000298274:D743N	D	+	1	0	0	PCDH11X	91020122	91020122	1.000000	0.71417	0.772000	0.31596	0.274000	0.26718	7.527000	0.81931	2.049000	0.60858	0.538000	0.68166	GAC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	1		2	2	2	0		0	0	122		122	258	1	2.060000	-16.728930	1	0.170000	NM_032969			17	14		440	316	0		1			0	0	122	0		9.995672e-01	0	0	0	0	0	0	17	440
PCDH11X	27328	broad.mit.edu	37	X	91873534	91873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000298274.8_Silent_p.P1176P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCCACCACCGATACAGGTGT	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				159						c.(3637-3639)ccG>ccA		protocadherin 11 X-linked							170.0	135.0	146.0					X																	91873534		2203	4298	6501	SO:0001819	synonymous_variant	27328	0	0					g.chrX:91873534G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3639G>A	chrX.hg19:g.91873534G>A							PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000373097.1_Silent_p.P1203P	p.P1213P	NM_032968.3	NP_116750.1	0	1	1		Q9BZA7	PC11X_HUMAN		7	4484	+			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	1	1	hg19	c.3639G>A	CCDS14461.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	1	0	1		2	2	2	0		0	0	189		189	191	1	2.060000	-5.094751	1	0.170000	NM_032969			150	130		492	426	1		1			0	0	189	0		1	0	0	0	0	0	0	150	492
DIAPH2	1730	broad.mit.edu	37	X	96327938	96327938	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96327938A>G	ENST00000324765.8	+	18	2397		c.e18-1		DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site|DIAPH2_ENST00000373049.4_Splice_Site			O60879	DIAP2_HUMAN	diaphanous-related formin 2						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)			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						TTTTTCTTTCAGTTCAAAAGA	0.338																																						ENST00000324765.8	1.000000	0.990000	1	9.900000e-01	0.990000	0.999503	0.990000	1.000000																										0				51						c.e18-1		diaphanous-related formin 2							56.0	51.0	53.0					X																	96327938		2203	4300	6503	SO:0001630	splice_region_variant	1730	0	0					g.chrX:96327938A>G	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.2051-1A>G	chrX.hg19:g.96327938A>G							DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000373049.4_Splice_Site				0	1	1		O60879	DIAP2_HUMAN		18	2397	+			A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Splice_Site	SNP	ENST00000324765.8	1	0	hg19		CCDS14467.1	1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590818	0.46214	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.23	5.23	0.72850	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7294	0.51728	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DIAPH2	96214594	96214594	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	6.571000	0.74000	1.753000	0.51906	0.478000	0.44815	.	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	1	0	1		2	2	2	0		0	0	31		31	31	1	2.060000	-20.000000	1	0.170000	NM_006729, NM_007309	Intron		18	18		92	91	0		1			0	0	31	0		9.999888e-01	0	0	0	0	0	0	18	92
DIAPH2	1730	broad.mit.edu	37	X	96603171	96603171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96603171C>T	ENST00000324765.8	+	24	3248	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N	DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373049.4_Silent_p.N967N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	967	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			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						TGCACAACAACATGATGAAGC	0.388																																						ENST00000324765.8	0.510000	0.100000	3.900000e-01	1.700000e-01	0.260000	0.285947	0.260000	0.240000																										0				51						c.(2899-2901)aaC>aaT		diaphanous-related formin 2							115.0	94.0	101.0					X																	96603171		2203	4300	6503	SO:0001819	synonymous_variant	1730	0	0					g.chrX:96603171C>T	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.2901C>T	chrX.hg19:g.96603171C>T							DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N|DIAPH2_ENST00000373049.4_Silent_p.N967N	p.N967N			0	1	1		O60879	DIAP2_HUMAN		24	3248	+			A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	0	1	hg19	c.2901C>T	CCDS14467.1	0																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	0	0	0		2	2	2	0		0	0	69		69	69	1	2.060000	-7.173076	1	0.170000	NM_006729, NM_007309			6	6		275	266	0		1	0		0	0	69	0		9.617646e-01	1.998532e-01	0	0	0	33	0	6	275
PCDH19	57526	broad.mit.edu	37	X	99657821	99657821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CTTGATTTCTTTTGATGCCCA	0.423																																						ENST00000373034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(2317-2319)Aag>Cag		protocadherin 19							143.0	116.0	125.0					X																	99657821		1893	4118	6011	SO:0001583	missense	57526	0	0					g.chrX:99657821T>G	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.2317A>C	chrX.hg19:g.99657821T>G	ENSP00000362125:p.Lys773Gln						PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	p.K773Q	NM_001184880.1	NP_001171809.1	0	1	1		Q8TAB3	PCD19_HUMAN		3	3992	-			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	1	1	hg19	c.2317A>C	CCDS55462.1	1	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419309	0.42918	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53206	0.65;0.63;0.65	5.94	5.94	0.96194	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.50338	-0.8840	10	0.12103	T	0.63	.	15.3292	0.74193	0.0:0.0:0.0:1.0	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	726;773;726	ENSP00000400327:K726Q;ENSP00000362125:K773Q;ENSP00000255531:K726Q	ENSP00000255531:K726Q	K	-	1	0	0	PCDH19	99544477	99544477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.721000	0.68477	2.004000	0.58718	0.478000	0.44815	AAG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.423	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1		2	2	2	0		0	0	40		40	40	1	2.060000	-20.000000	1	0.170000	NM_020766			47	45		188	188	1		1	0		0	0	40	0		1	0	0	0	0	1	0	47	188
PCDH19	57526	broad.mit.edu	37	X	99661460	99661460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	ENST00000373034.4	-	1	3811	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_ENST00000255531.7_Silent_p.T712T|PCDH19_ENST00000420881.2_Silent_p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	712					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						TGCAGTTGTAGGTCCGGATCT	0.428																																						ENST00000373034.4	1.000000	0.560000	1	8.400000e-01	0.990000	0.942405	0.990000	1.000000																										0				68						c.(2134-2136)acC>acT		protocadherin 19							76.0	67.0	70.0					X																	99661460		1934	4120	6054	SO:0001819	synonymous_variant	57526	0	0					g.chrX:99661460G>A	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.2136C>T	chrX.hg19:g.99661460G>A							PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	p.T712T	NM_001184880.1	NP_001171809.1	0	1	1		Q8TAB3	PCD19_HUMAN		1	3811	-			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	0	1	hg19	c.2136C>T	CCDS55462.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.428	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1		2	2	2	0		0	0	11		11	11	1	2.060000	-13.049100	1	0.170000	NM_020766			7	7		60	58	1		1			0	0	11	0		9.805321e-01	0	0	0	0	0	0	7	60
PCDH19	57526	broad.mit.edu	37	X	99661672	99661672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M|PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in EIEE9). {ECO:0000269|PubMed:22267240}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						TGAGCCACCACGATAAGCTCA	0.567																																						ENST00000373034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(1924-1926)Gtg>Atg		protocadherin 19							60.0	62.0	61.0					X																	99661672		2064	4196	6260	SO:0001583	missense	57526	0	0					g.chrX:99661672C>T	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.1924G>A	chrX.hg19:g.99661672C>T	ENSP00000362125:p.Val642Met						PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	p.V642M	NM_001184880.1	NP_001171809.1	0	1	1		Q8TAB3	PCD19_HUMAN		1	3599	-			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	1	1	hg19	c.1924G>A	CCDS55462.1	1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631431	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.91786	0.5439	10	0.87932	D	0	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	642;642;642	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	642	ENSP00000400327:V642M;ENSP00000362125:V642M;ENSP00000255531:V642M	ENSP00000255531:V642M	V	-	1	0	0	PCDH19	99548328	99548328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.454000	0.82982	0.513000	0.50165	GTG	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1		2	2	2	0		0	0	55		55	54	1	2.060000	-20.000000	1	0.170000	NM_020766			64	62		155	152	1		1			0	0	55	0		1	0	0	0	0	0	0	64	155
PCDH19	57526	broad.mit.edu	37	X	99662630	99662630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000255531.7_Silent_p.G322G|PCDH19_ENST00000420881.2_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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						TGGAATTGGGCCCCAAGTCCT	0.577																																						ENST00000373034.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				68						c.(964-966)ggG>ggA		protocadherin 19							50.0	56.0	54.0					X																	99662630		2188	4266	6454	SO:0001819	synonymous_variant	57526	0	0					g.chrX:99662630C>T	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.966G>A	chrX.hg19:g.99662630C>T							PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	p.G322G	NM_001184880.1	NP_001171809.1	0	1	1		Q8TAB3	PCD19_HUMAN		1	2641	-			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	1	1	hg19	c.966G>A	CCDS55462.1	1																																																																																								1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1		2	2	2	0		0	0	76		76	75	1	2.060000	-20.000000	1	0.170000	NM_020766			67	64		266	261	1		1			0	0	76	0		1	0	0	0	0	0	0	67	266
CLIC2	1193	broad.mit.edu	37	X	154507346	154507346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	197	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	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)					ATATTTCTTGGCAGCAACCTA	0.398																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(589-591)gCc>gTc		chloride intracellular channel 2							76.0	68.0	70.0					X																	154507346		2203	4300	6503	SO:0001583	missense	1193	0	0					g.chrX:154507346G>A	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.590C>T	chrX.hg19:g.154507346G>A	ENSP00000358460:p.Ala197Val						CLIC2_ENST00000465553.1_5'UTR	p.A197V	NM_001289.4	NP_001280.3	0	1	1		O15247	CLIC2_HUMAN		6	808	-	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)		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	1	1	hg19	c.590C>T	CCDS14767.1	1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178450	0.78564	.	.	ENSG00000155962	ENST00000369449	D	0.93906	-3.31	5.19	4.32	0.51571	5.19	4.32	0.51571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.055211	0.64402	D	0.000001	D	0.94238	0.8150	M	0.75085	2.285	0.45733	D	0.998634	D	0.65815	0.995	P	0.56514	0.8	D	0.92781	0.6240	10	0.48119	T	0.1	-9.8228	6.8635	0.24079	0.0978:0.1731:0.7291:0.0	.	197	O15247	CLIC2_HUMAN	V	197	ENSP00000358460:A197V	ENSP00000358460:A197V	A	-	2	0	0	CLIC2	154160540	154160540	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	4.799000	0.62517	1.115000	0.41800	-0.268000	0.10319	GCC	1.700000e-01		TCGA-IB-7651-01A-11D-2154-08	0.398	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	1	0	1		2	2	2	0		0	0	85		85	85	1	2.060000	-20.000000	1	0.170000	NM_001289			92	92		298	293	1		1	0		0	0	85	0		1	9.999991e-01	0	0	0	68	0	92	298
ZDHHC7	55625	broad.mit.edu	37	16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	70					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	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)			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557																																						ENST00000313732.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999996	0.990000	1.000000																										0				10						c.(208-210)Ctg>Atg		zinc finger, DHHC-type containing 7							116.0	90.0	99.0					16																	85024017		2199	4300	6499	SO:0001583	missense	55625	0	0					g.chr16:85024017G>T	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.208C>A	chr16.hg19:g.85024017G>T	ENSP00000315604:p.Leu70Met	1					ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	p.L70M	NM_017740.2	NP_060210.2	1	2	3	2.195832	Q9NXF8	ZDHC7_HUMAN		3	560	-			D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4			hg19	c.208C>A	CCDS10950.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341290	0.60963	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.41758	0.99;1.22	5.07	2.86	0.33363	5.07	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	D;D	0.61080	0.964;0.989	D;D	0.63488	0.915;0.912	T	0.57365	-0.7824	10	0.62326	D	0.03	-12.2093	9.1614	0.37025	0.2827:0.0:0.7173:0.0	.	70;70	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	M	70	ENSP00000315604:L70M;ENSP00000341681:L70M	ENSP00000315604:L70M	L	-	1	2	2	ZDHHC7	83581518	83581518	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.348000	0.44045	1.119000	0.41883	0.313000	0.20887	CTG	2.350230e-01		TCGA-IB-7651-01A-11D-2154-08	0.557	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1		0	1		2	2	2	0		0	0	45		45	45	1	2.060000	-20.000000	1	0.170000	NM_017740			31	31		164	164			1	1		0	0	45	0		1	1	0	103	0	272	0	31	164
PPM1K	152926	broad.mit.edu	37	4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	8					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507																																						ENST00000608933.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				13						c.(22-24)aCt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							48.0	46.0	47.0					4																	89199713		2203	4300	6503	SO:0001583	missense	152926	0	0					g.chr4:89199713G>T	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.23C>A	chr4.hg19:g.89199713G>T	ENSP00000477341:p.Thr8Asn	0					PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N	p.T8N	NM_152542.4	NP_689755.3	1	2	3	1.998139	Q8N3J5	PPM1K_HUMAN		2	412	-		Hepatocellular(203;0.114)	B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1			hg19	c.23C>A	CCDS3629.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416855	0.25552	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.45668	1.95;0.89;0.89	3.78	3.78	0.43462	3.78	3.78	0.43462	.	0.574252	0.18711	N	0.133296	T	0.26702	0.0653	N	0.19112	0.55	0.28371	N	0.92	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.013;0.004;0.001	T	0.07770	-1.0755	10	0.25751	T	0.34	-19.8191	11.2292	0.48901	0.0:0.0:0.8164:0.1836	.	8;8;8	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	N	8	ENSP00000295908:T8N;ENSP00000424155:T8N;ENSP00000324761:T8N	ENSP00000295908:T8N	T	-	2	0	0	PPM1K	89418737	89418737	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.660000	0.25009	2.420000	0.82092	0.491000	0.48974	ACT	1.749093e-01		TCGA-IB-7651-01A-11D-2154-08	0.507	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4		0	1		2	2	2	0		0	0	43		43	43	1	2.060000	-20.000000	1	0.170000	NM_152542			42	41		156	153			1	0		0	0	43	0		1	9.904793e-01	0	1	0	29	0	42	156
PM20D2	135293	broad.mit.edu	37	6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	329						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318																																						ENST00000275072.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				12						c.(985-987)Gaa>Aaa		peptidase M20 domain containing 2							96.0	106.0	103.0					6																	89868116		2203	4299	6502	SO:0001583	missense	135293	0	0					g.chr6:89868116G>A	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.985G>A	chr6.hg19:g.89868116G>A	ENSP00000275072:p.Glu329Lys	0						p.E329K	NM_001010853.1	NP_001010853.1	0	0	0	1.973144	Q8IYS1	P20D2_HUMAN		5	1080	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4			hg19	c.985G>A	CCDS34499.1	1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129926	0.21041	.	.	ENSG00000146281	ENST00000275072	T	0.43688	0.94	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.148551	0.64402	D	0.000011	T	0.14056	0.0340	N	0.17248	0.465	0.38219	D	0.940694	B	0.15719	0.014	B	0.20577	0.03	T	0.10109	-1.0644	10	0.07030	T	0.85	-15.6414	19.0253	0.92930	0.0:0.0:1.0:0.0	.	329	Q8IYS1	P20D2_HUMAN	K	329	ENSP00000275072:E329K	ENSP00000275072:E329K	E	+	1	0	0	PM20D2	89924835	89924835	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.688000	0.74557	2.490000	0.84030	0.585000	0.79938	GAA	1.600040e-01		TCGA-IB-7651-01A-11D-2154-08	0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1		0	1		2	2	2	0		0	0	107		107	106	1	2.060000	-3.233148	1	0.170000	NM_001010853			84	84		424	416			1	1		0	0	107	0		1	9.996117e-01	0	19	0	41	0	84	424
